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You may obtain a copy of the License at http://www.apache.org/licenses/LICENSE-2.0 Unless required by applicable law or agreed to in writing, software distributed under the License is distributed on an \"AS IS\" BASIS, WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied. See the License for the specific language governing permissions and limitations under the\nLicense. " xsd:string property_value: http://purl.org/dc/terms/license "www.apache.org/licenses/LICENSE-2.0" xsd:string property_value: http://www.ebi.ac.uk/efo/creator "Catherine Leroy" xsd:string property_value: http://www.ebi.ac.uk/efo/creator "Dani Welter" xsd:string property_value: http://www.ebi.ac.uk/efo/creator "Drashtti Vasant" xsd:string property_value: http://www.ebi.ac.uk/efo/creator "Ele Holloway" xsd:string property_value: http://www.ebi.ac.uk/efo/creator "Eleanor Williams" xsd:string property_value: http://www.ebi.ac.uk/efo/creator "Emma Kate Hastings" xsd:string property_value: http://www.ebi.ac.uk/efo/creator "Helen Parkinson" xsd:string property_value: http://www.ebi.ac.uk/efo/creator "James Malone" xsd:string property_value: http://www.ebi.ac.uk/efo/creator "Jon Ison" xsd:string property_value: http://www.ebi.ac.uk/efo/creator "Natalja Kurbatova" xsd:string property_value: http://www.ebi.ac.uk/efo/creator "Simon Jupp" xsd:string property_value: 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eclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclara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lass())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\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eclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class()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laration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclarati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ss())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\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())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nD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lass())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class()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laration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\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eclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(AnnotationProperty())\nDeclaration(AnnotationProperty())\nDeclaration(AnnotationProperty())\nDeclaration(AnnotationProperty())\nDeclaration(AnnotationProperty())\nDeclaration(AnnotationProperty())\nDeclaration(AnnotationProperty())\nDeclaration(AnnotationProperty())\n############################\n# Annotation Properties\n############################\n\n# Annotation Property: (created_by)\n\nSubAnnotationPropertyOf( )\n\n# Annotation Property: (preferred label)\n\nSubAnnotationPropertyOf( rdfs:label)\n\n\n############################\n# Object Properties\n############################\n\n# Object Property: (has_input)\n\nEquivalentObjectProperties( ObjectInverseOf())\n\n# Object Property: (characteristic_of)\n\nAnnotationAssertion( \"inheres_in\")\n\n\n\n############################\n# Classes\n############################\n\n# Class: (HEK-293 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\n\n# Class: (A-549 cell)\n\nSubClassOf( ObjectIntersectionOf( ObjectSomeValuesFrom( )))\n\n# Class: (Burkitt lymphoma cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (myoblast cell line)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete_K-562 cell)\n\nSubClassOf( owl:Thing)\n\n# Class: (brain cancer cell line)\n\nSubClassOf( ObjectIntersectionOf( ObjectSomeValuesFrom( )))\n\n# Class: (myeloid leukemia cell line)\n\nSubClassOf( ObjectIntersectionOf( ObjectSomeValuesFrom( )))\n\n# Class: (WEHI-231 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\n\n# Class: (RT4-D6P2T cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\n\n# Class: (BA/F3 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete_left ventricle)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_right ventricle)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Th1-cell)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Th2-cell)\n\nSubClassOf( owl:Thing)\n\n# Class: (JURKAT E-6.1 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\n\n# Class: (HMEpC cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (macrophage cell line)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (J-774 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\n\n# Class: (RBA-2 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete_juvenile leaf)\n\nSubClassOf( owl:Thing)\n\n# Class: (colonic epithelium cell line)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HL-1 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\n\n# Class: (COM-3 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (INC-2 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\n\n# Class: (vascular smooth muscle cell)\n\nSubClassOf( ObjectIntersectionOf( ObjectSomeValuesFrom( )))\n\n# Class: (ES-E14 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\n\n# Class: (Ma-Mel-11 cell)\n\nSubClassOf( ObjectIntersectionOf( ObjectSomeValuesFrom( )))\n\n# Class: (erlotinib)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (ethanol)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (dopamine)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: ()\n\nAnnotationAssertion( \"MeSH:D000968\")\nSubClassOf( owl:Thing)\n\n# Class: ()\n\nAnnotationAssertion( \"MeSH:C106538\")\nAnnotationAssertion( \"NCIt:C61523\")\nAnnotationAssertion( \"SNOMEDCT:116084008\")\nAnnotationAssertion( \"SNOMEDCT:387005008\")\nSubClassOf( owl:Thing)\n\n# Class: ()\n\nSubClassOf( owl:Thing)\n\n# Class: ()\n\nAnnotationAssertion( \"Class imported / merged by efoimporter\")\nSubClassOf( owl:Thing)\n\n# Class: (genistein)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (rotenone)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (dimethyl sulfoxide)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (fulvestrant)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (kainic acid)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: ()\n\nAnnotationAssertion( \"MeSH:C017572\")\nSubClassOf( owl:Thing)\n\n# Class: (dexamethasone)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (flufenamic acid)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (methotrexate)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (imatinib)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (trifluoperazine)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: ()\n\nAnnotationAssertion( \"MeSH:C049811\")\nAnnotationAssertion( \"NCIt:C68364\")\nSubClassOf( owl:Thing)\n\n# Class: (gefitinib)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (calcineurin)\n\nSubClassOf( owl:Thing)\n\n# Class: (neuropeptide S)\n\nSubClassOf( owl:Thing)\n\n# Class: ()\n\nAnnotationAssertion( \"ChEMBL:150681\")\nAnnotationAssertion( \"ChemIDplus:109511-58-2\")\nAnnotationAssertion( \"CiteXplore:21618303\")\nAnnotationAssertion( \"CiteXplore:22025280\")\nAnnotationAssertion( \"CiteXplore:22052387\")\nAnnotationAssertion( \"CiteXplore:22075021\")\nAnnotationAssertion( \"CiteXplore:22101421\")\nAnnotationAssertion( \"CiteXplore:22129618\")\nAnnotationAssertion( \"CiteXplore:22182511\")\nAnnotationAssertion( \"CiteXplore:22273495\")\nAnnotationAssertion( \"CiteXplore:22286127\")\nAnnotationAssertion( \"CiteXplore:22301382\")\nAnnotationAssertion( \"CiteXplore:22313325\")\nAnnotationAssertion( \"CiteXplore:22354777\")\nAnnotationAssertion( \"CiteXplore:22396328\")\nAnnotationAssertion( \"MeSH:C113580\")\nAnnotationAssertion( \"PDBeChem:5BM\")\nAnnotationAssertion( \"Reaxys:3483750\")\nAnnotationAssertion( \"Wikipedia:U0126\")\nSubClassOf( owl:Thing)\n\n# Class: (sulindac sulfone)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (nifedipine)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (ochratoxin A)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (phenobarbital)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (prochlorperazine)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (raloxifene)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (sirolimus)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (sulindac)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (troglitazone)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (GM08388)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM08390)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: 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ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (AG10049)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (AG09699)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (AG09877)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (AG13150)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (AG13145)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (AG13066)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: 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ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM10832)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM10833)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM00144)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ND00259)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ND00268)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM15386)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM15385)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ND00397)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM15324)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM15268)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM15245)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM15242)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM15236)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM15227)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM15223)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM15224)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM15226)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM15221)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM15216)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM15215)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM15213)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM15590)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ND01173)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ND06229)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ND00051)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM15144)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ND00022)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM15029)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM15038)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM15036)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM15061)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM15056)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM15072)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ND00151)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14381)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14382)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14405)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14414)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14409)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14408)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14406)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (AG08904)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14439)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14433)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14432)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14417)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14453)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14454)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14455)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14440)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14447)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14448)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14452)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14475)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14476)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14465)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14467)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14464)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14474)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14468)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14501)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14503)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14502)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14504)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14507)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14506)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14478)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14477)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14481)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14480)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14479)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14568)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14569)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14581)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14535)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14536)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14532)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14533)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14509)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14508)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14520)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14521)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14583)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14582)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14584)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14679)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ND04158)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM13649)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM13883)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (AG08048)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (AG08046)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM13811)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ND04424)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM13995)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM14153)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (AG04147)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (AG04351)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (AG04655)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (AG05416)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (AG06237)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (AG07307)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (AG07139)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM06944)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM07029)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete immortal cell line cell)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete peripheral neuron)\n\nAnnotationAssertion(Annotation( \"ISBN:0721662544\") \"OBSOLETE A neuron that is part of nerve found outside the central nervous system.\")\nAnnotationAssertion( \"FMA:84664\")\nAnnotationAssertion(rdfs:comment \"Merging into CL:2000032, see https://github.com/obophenotype/cell-ontology/issues/1069\")\nAnnotationAssertion(rdfs:label \"obsolete peripheral neuron\")\nSubClassOf( owl:Thing)\n\n# Class: (endothelial cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( )))\n\n# Class: (obsolete megaspore)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete microspore)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete guard cell)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neuroblast (sensu Vertebrata))\n\nSubClassOf( owl:Thing)\n\n# Class: (protoplast)\n\nSubClassOf( ObjectIntersectionOf( ObjectSomeValuesFrom( )))\n\n# Class: (obsolete polygonal cell)\n\nSubClassOf( owl:Thing)\n\n# Class: (neuron)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( )))\n\n# Class: (germ cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( )))\n\n# Class: (obsolete somatic cell)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete ventral midline neuron)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete embryonic esophageal ganglion)\n\nSubClassOf( owl:Thing)\n\n# Class: ()\n\nSubClassOf( owl:Thing)\n\n# Class: ()\n\nSubClassOf( owl:Thing)\n\n# Class: ()\n\nAnnotationAssertion( \"MeSH:D034622\")\nAnnotationAssertion( \"NCIt:C20153\")\nSubClassOf( owl:Thing)\n\n# Class: ()\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete protein glycosylation in endoplasmic reticulum)\n\nSubClassOf( owl:Thing)\n\n# Class: ()\n\nSubClassOf( owl:Thing)\n\n# Class: ()\n\nAnnotationAssertion( \"Reactome:REACT_101554\")\nAnnotationAssertion( \"Reactome:REACT_102155\")\nAnnotationAssertion( \"Reactome:REACT_105825\")\nAnnotationAssertion( \"Reactome:REACT_106151\")\nAnnotationAssertion( \"Reactome:REACT_108005\")\nAnnotationAssertion( \"Reactome:REACT_109022\")\nAnnotationAssertion( \"Reactome:REACT_17015\")\nAnnotationAssertion( \"Reactome:REACT_32904\")\nAnnotationAssertion( \"Reactome:REACT_34473\")\nAnnotationAssertion( \"Reactome:REACT_80561\")\nAnnotationAssertion( \"Reactome:REACT_81994\")\nAnnotationAssertion( \"Reactome:REACT_82523\")\nAnnotationAssertion( \"Reactome:REACT_85873\")\nAnnotationAssertion( \"Reactome:REACT_86658\")\nAnnotationAssertion( \"Reactome:REACT_89852\")\nAnnotationAssertion( \"Reactome:REACT_91052\")\nAnnotationAssertion( \"Reactome:REACT_93132\")\nAnnotationAssertion( \"Reactome:REACT_96466\")\nAnnotationAssertion( \"Reactome:REACT_99179\")\nSubClassOf( owl:Thing)\n\n# Class: (obsolete extracellular region part)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete organelle part)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete intracellular part)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete membrane part)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete nuclear part)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete mitochondrial part)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete cytoskeletal part)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete cytoplasmic vesicle part)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete chloroplast part)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete plastid part)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete cytoplasmic part)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete intracellular organelle part)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete synapse part)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete external encapsulating structure part)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete cell part)\n\nSubClassOf( owl:Thing)\n\n# Class: ()\n\nSubClassOf( owl:Thing)\n\n# Class: ()\n\nSubClassOf( owl:Thing)\n\n# Class: ()\n\nSubClassOf( owl:Thing)\n\n# Class: ()\n\nSubClassOf( owl:Thing)\n\n# Class: ()\n\nSubClassOf( owl:Thing)\n\n# Class: ()\n\nSubClassOf( owl:Thing)\n\n# Class: ()\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete cofactor transport)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete cofactor metabolic process)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete symbiotic process mediated by secreted substance)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete interaction with host via secreted substance)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete response to paclitaxel)\n\nSubClassOf( owl:Thing)\n\n# Class: (genetically isolated population)\n\nEquivalentClasses( ObjectAllValuesFrom( ))\n\n# Class: (Neurogenic bladder)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete Sparse and thin eyebrow)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete Mood swings)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete Glucose intolerance)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete Heterogeneous)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete Mood changes)\n\nSubClassOf( owl:Thing)\n\n# Class: (Abnormality of the cardiovascular system)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (Mitral valve prolapse)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (Abnormal aortic morphology)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (Iron deficiency anemia)\n\nSubClassOf( ObjectIntersectionOf(ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))\n\n# Class: (Aplastic anemia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete Abnormality of the bronchi)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete Dysautonomia)\n\nSubClassOf( owl:Thing)\n\n# Class: (Hypercholesterolemia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ))))\n\n# Class: (Hypocholesterolemia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete Abnormality of glycoprotein metabolism)\n\nSubClassOf( owl:Thing)\n\n# Class: (Venous thrombosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete Loss of ability to walk)\n\nSubClassOf( owl:Thing)\n\n# Class: (Cerebral degeneration)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete Infantile hypercalcemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (Abnormal toenail morphology)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_age of onset)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete Central hypotonia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_clinical modifier)\n\nSubClassOf( owl:Thing)\n\n# Class: (Accommodative esotropia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete Small scrotum)\n\nSubClassOf( owl:Thing)\n\n# Class: (Non-accomodative esotropia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete Muscle spasm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete Toe walking)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete congenital abnormality)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete myeloid neoplasms associated with PDGFRB rearrangement)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete left bundle branch block)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete hernia of ovary and fallopian tube)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete vaginal enterocele)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete inflammatory and toxic neuropathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete food allergy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete egg allergy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete appendix goblet cell carcinoid)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete nonepidermolytic palmoplantar keratoderma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete glycogen storage disease VIII)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete limited scleroderma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete pigmented villonodular synovitis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete wheat allergic disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete familial cerebral cavernous malformation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete paroxysmal nonkinesigenic dyskinesia 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete colchicine resistance)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete episodic kinesigenic dyskinesia 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete hyperlipoproteinemia type IV)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete autosomal dominant Opitz G/BBB syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete hypertelorism, Teebi type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete adult hypophosphatasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete hypotrichosis 4)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete Li-Fraumeni syndrome 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete May-Hegglin anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete autosomal dominant limb-girdle muscular dystrophy type 1A)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete Goldenhar syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete spinocerebellar ataxia type 7)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete spheroid body myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete long QT syndrome 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete autosomal dominant neovascular inflammatory vitreoretinopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete congenital central hypoventilation syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete endosteal sclerosis-cerebellar hypoplasia syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete cerebrofaciothoracic dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete COACH syndrome 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete constriction rings syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete hair defect-photosensitivity-intellectual disability syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete deafness-enamel hypoplasia-nail defects syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete Addison disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete infantile hypophosphatasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete childhood hypophosphatasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete mitochondrial complex II deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete Carey-Fineman-Ziter syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete infantile neuroaxonal dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete pulmonary arteriovenous malformation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete Knobloch syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete enhanced S-cone syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete sudden infant death syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete Glanzmann's thrombasthenia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete lethal restrictive dermopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete colobomatous microphthalmia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete Clark-Baraitser syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete invasive pneumococcal disease, recurrent isolated, 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete 46,XX sex reversal 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete micromelic dwarfism, Fryns type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete Stüve-Wiedemann syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete Bartter disease type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete leukoencephalopathy with vanishing white matter)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete familial dyskinesia and facial myokymia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete familial hypercholanemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete Parkes Weber syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete short stature-delayed bone age due to thyroid hormone metabolism deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete Chitotriosidase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete hypermethioninemia due to adenosine kinase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete accelerated tumor formation, susceptibility to)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete cerebellar ataxia, neuropathy, and vestibular areflexia syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete periodic fever, menstrual cycle-dependent)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete NGLY1-deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete autosomal recessive limb-girdle muscular dystrophy type 2R)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete eculizumab, poor response to)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete Bombay phenotype)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete dyskinesia, limb and orofacial, infantile-onset)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete adrenal/paraganglial tumor)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete genetic cardiac rhythm disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete other syndrome with lissencephaly as a major feature)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete autosomal monosomy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete primary glomerular disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete syndrome with limb malformations as a major feature)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete rare developmental defect with connective tissue involvement)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete Mendelian syndromes with cleft lip/palate)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete rare syndrome with cardiac malformations)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete genetic hypertension)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete situs ambiguus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete basal epidermolysis bullosa simplex)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete aleukemic mast cell leukemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete acrodermatitis continua suppurativa of Hallopeau)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete rare odontal or periodontal disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete rare disease with dentinogenesis imperfecta)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete rare insulin-resistance syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete rare disorder with congenital hypogonadotropic hypogonadism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete genetic central nervous system and retinal vascular disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete rare genetic refraction anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete rare genetic hypothalamic or pituitary disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete congenital valvular dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete early infantile epileptic encephalopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete non-dystrophic myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete muscular lipidosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete muscular glycogenosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete rare hereditary disease with peripheral neuropathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete rare hereditary metabolic disease with peripheral neuropathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete rare hereditary systemic disease with peripheral neuropathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete rare hereditary neurologic disease with peripheral neuropathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete acute and subacute inflammatory demyelinating polyneuropathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete rare hereditary thrombophilia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete generalized pustular psoriasis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete prenatal benign hypophosphatasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete thrombotic disorder due to a constitutional coagulation factors defect)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete thrombotic disorder due to a constitutional platelet anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete fibrous dysplasia of bone)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete mitochondrial DNA depletion syndrome, hepatocerebral form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete partial trisomy of the short arm of chromosome 9)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete partial duplication of the long arm of chromosome 11)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete partial duplication of the long arm of chromosome 13)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete peeling skin syndrome type B)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete complex chromosomal rearrangement)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete X chromosome number anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete polysomy of X chromosome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete Y chromosome number anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete X and Y chromosomal anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete uniparental disomy of chromosome X)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete oculofaciocardiodental syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete genetic infertility)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete 2q31.1 microduplication syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete facial nerve palsy due to herpes zoster infection)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete rare paroxysmal movement disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete inherited tremor disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete rare genetic disease with myoclonus as a major feature)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete disease with diffuse palmoplantar keratoderma as a major feature)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete disease with focal palmoplantar keratoderma as a major feature)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete cleft lip/palate-ectodermal dysplasia syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete 46,XY disorder of sex development of gynecological interest)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete familial lambdoid synostosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete other immunodeficiency syndromes due to defects in innate immunity)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete syndrome with combined immunodeficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete other immunodeficiency syndrome with predominantly antibody defects)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete hypoplastic tibiae-postaxial polydactyly syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete ocular albinism with congenital sensorineural hearing loss)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete ring chromosome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete dysostosis with limb and face anomalies as a major feature)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete rare disorder with dystonia and other neurologic or systemic manifestation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete X-linked congenital disorder of glycosylation with intellectual disability as a major feature)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete congenital disorder of glycosylation with epilepsy as a major feature)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete congenital disorder of glycosylation with cardiac malformation as a major feature)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete congenital disorder of glycosylation with nephropathy as a major feature)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete congenital disorder of glycosylation with deafness as a major feature)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete hypotonia-speech impairment-severe cognitive delay syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete generalized isolated dystonia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete deep dermatophytosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete periodic paralysis with transient compartment-like syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete polyglucosan body myopathy type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete rare hereditary disease with avascular necrosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete rare male infertility due to testicular endocrine disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete rare male infertility due to adrenal disorder of genetic origin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete rare genetic disorder with obstructive azoospermia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete rare female infertility due to adrenal disorder of genetic origin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete female infertility due to an anomaly of ovarian function of genetic origin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete deficiency of the interleukin-36 receptor antagonist)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete dysostosis of genetic origin with limb anomaly as a major feature)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete rare genetic bone development disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete neonatal adrenoleukodystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete paroxysmal nocturnal hemoglobinuria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete class I glucose-6-phosphate dehydrogenase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete mutilating palmoplantar keratoderma with periorificial keratotic plaques)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete neurometabolic disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete hemorrhagic disorder due to a constitutional platelet anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete infantile Refsum disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete other genetic epidermal disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete syndromic hair shaft abnormality)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete syndromic nail anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete autosomal dominant medullary cystic kidney disease with hyperuricemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete syndromic genetic hearing loss)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete autosomal recessive axonal hereditary motor and sensory neuropathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete other inborn metabolic disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete short rib-polydactyly syndrome, Saldino-Noonan type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete short rib-polydactyly syndrome, Verma-Naumoff type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete syndactyly type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete syndromic renal or urinary tract malformation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete Holmes-Gang syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete Chudley-Lowry-Hoar syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete Juberg-Marsidi syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete Carpenter-Waziri syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete Smith-Fineman-Myers syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete Renier-Gabreels-Jasper syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete distal monosomy 20q)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete rare otorhinolaryngological malformation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete autosomal trisomy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete total autosomal trisomy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete partial autosomal trisomy/tetrasomy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete total autosomal monosomy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete partial autosomal monosomy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete autosomal uniparental disomy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete uniparental disomy of maternal origin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete uniparental disomy of paternal origin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete gonosome number anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete gonosome structural anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete chromosome Y structural anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete chromosome X structural anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete rare constitutional hemolytic anemia due to an enzyme disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete rare eye disease due to a differentiation anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete rare eyelid malformation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete syndromic myopia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete rare hyperopia and astigmatism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete goniodysgenesis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete corneoiridogoniodysgenesis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete rare disease with glaucoma as a major feature)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete lens and zonula anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete syndromic cataract)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete lens position anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete disease predisposing to age-related macular degeneration)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete rare strabismus and restriction syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete oculomotor apraxia or related oculomotor disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete absent tibia-polydactyly syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete atypical chronic myeloid leukemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete congenital myopathy with excess of thin filaments)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete coloboma of optic disk)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete rare familial disorder with hypertrophic cardiomyopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete resistance to thyrotropin-releasing hormone syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete disorder of retroperitoneum)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete bundle branch block)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete genetic hair anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete genetic nail anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete disorder of genitourinary system)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete disorder involving pain)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete cataract - glaucoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete corticobasal degeneration)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete familial pityriasis rubra pilaris)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete urogenital neoplasm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete warfarin sensitivity, X-linked)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete chemically-induced disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete Saul-Wilson syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete endometrial hyperplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete genetic multiple congenital anomalies/dysmorphic syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete genetic transient congenital hypothyroidism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete abdominal and pelvic region disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete radiation or chemically induced disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete actn3 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete developmental delay, intellectual disability, obesity, and dysmorphic features)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete neurodevelopmental disorder with brain, liver, and lung abnormalities)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete asymptomatic COVID-19 infection)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete mild COVID-19 infection)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete moderate COVID-19 infection)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete severe COVID-19 infection)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete critical COVID-19 infection)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete Heimler syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete acquired paroxysmal nocturnal hemoglobinuria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete acute myeloid leukemia, NPM1 gene mutation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bile duct inflammation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Trichophyton megninii)\n\nSubClassOf( owl:Thing)\n\n# Class: (level of ceramide)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( )))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (level of diglyceride)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( )))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (level of phosphatidylcholine)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( )))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (level of phosphatidylethanolamine)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( )))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (level of phosphatidylinositol)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( )))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (level of sphingomyelin)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( )))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (level of triglyceride)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( )))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (level of activin/inhibin beta A chain in blood serum)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (level of neural cell adhesion molecule 1 in blood serum)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (level of SLAM family member 1 in blood serum)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (level of interleukin-6 receptor subunit beta in blood serum)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (level of tumor necrosis factor receptor superfamily member 1A in blood serum)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (level of prostate-specific antigen in blood serum)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (level of pituitary adenylate cyclase-activating polypeptide in blood serum)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (level of neurofilament light polypeptide in blood serum)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (level of STAM-binding protein in blood serum)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (level of tumor necrosis factor receptor superfamily member 3 in blood serum)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (level of advanced glycosylation end product-specific receptor in blood serum)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (material supplier role)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( )))\n\n# Class: (Helicos sequencing)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Illumina sequencing)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: ()\n\nSubClassOf( owl:Thing)\n\n# Class: ()\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete insect dorsal histoblast nest abdominal)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete insect visual anlage in statu nascendi)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete endocrine system component)\n\nSubClassOf( owl:Thing)\n\n# Class: (experimental factor)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Arbisopsis thaliana)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_B-precursor acute lymphoblastic leukemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_B-lymphocyte)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_BY4741)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_B lymphocyte)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Becker's muscular dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_CNS brain cerebellum MMHCC)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_CNS brain hippocampus MMHCC)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypothalamus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_olfactory lobe)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_CNS brain striatum MMHCC)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinal cord)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_CTL sensitivity)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_chronic lymphocytic leukemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_DEL cells)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Daudi Burkitt's lymphoma cell line)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Ewing family tumor)\n\nSubClassOf( owl:Thing)\n\n# Class: (head and neck squamous cell carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_infiltrating ductal carcinoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_infiltrating lobular carcinoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_liver carcinoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_liver heptocellular carcinoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lymphoblastic leukemia MOLT-4)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_MELAS syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_MMHCC part)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_malignant peripheral nerve sheath tumor class)\n\nSubClassOf( owl:Thing)\n\n# Class: (metabolic syndrome)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_precursor T lymphoblastic leukemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_promyelocytic leukemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Scott syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_T-cell lymphoblastic lymphoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_T lymphocyte)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Wilms tumor)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_abdominal cavity)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_abdominal skin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_acute lymphoblastic leukemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_adaxial cells)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_adductor mandibulae complex)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_adenohypophyseal placode)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_adenohypophysis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_adipose tissue MMHCC)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_adipose tissue brown MMHCC)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_adrenal cortex)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_adult eye primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_adult foregut precursor)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_adult hindgut precursor)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Malpighian tubule)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_adult muscle precursor primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Aicardi syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Alzheimer's disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_amnioserosa)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_amnioserosa anlage in statu nascendi)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_amygdala)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_amyotrophic lateral sclerosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_anlage in statu nascendi)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_antennal primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_anterior endoderm anlage)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_anterior midgut primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_aorta)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_apical meristem)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_apoptotic amnioserosa)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_asthma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_astrocytic tumor)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_atrioventricular node)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cardiac atrium)\n\nSubClassOf( owl:Thing)\n\n# Class: (benign prostatic hyperplasia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_biomaterial factor)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bipolar disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bladder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bladder MMHCC)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bladder carcinoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bladder mucosa)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_blastocyst)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_blood)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bone)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bone MMHCC)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bone marrow MMHCC)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_brain)\n\nSubClassOf( owl:Thing)\n\n# Class: (breast carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_bronchial epithelium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_calpainopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cancer)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cardiac ventricle)\n\nSubClassOf( owl:Thing)\n\n# Class: (cardiomyopathy)\n\nEquivalentClasses( ObjectSomeValuesFrom( ))\n\n# Class: (obsolete_cell factor)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cell line)\n\nSubClassOf( owl:Thing)\n\n# Class: (central nervous system cancer)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_cerebellum)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cerebral cortex)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cerebrospinal fluid)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_chordoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_chronic granulomatous disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_chronic myeloid leukemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cingulate cortex)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_circular visceral muscle fibers)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_classical Hodgkin's lymphoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_clinical factor)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_clinical history age)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_clinical information)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_clypeo-labral primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cochlea structure)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cockayne syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_colorectal tumor)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_colon)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_colon adenocarcinoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_colon carcinoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_common variable immunodeficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital bilateral absence of the vas deferens)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congestive cardiomyopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_conjunctiva structure)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_conventional clear cell renal carcinoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cornea structure)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_coronary artery disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_corpus allatum)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_corpus cardiacum)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_corpus striatum)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_corpus uteri)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cortex)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cultivar)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cystic fibrosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_damage response)\n\nSubClassOf( owl:Thing)\n\n# Class: (diabetes mellitus)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (digestive system disease)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (obsolete_disease state)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ectoderm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dorsal epidermis primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dorsal histoblast nest abdominal)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dorsal imaginal precursor)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dorsal mesothoracic disc)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dorsal metathoracic disc)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dorsal pharyngeal muscle primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dorsal ridge)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dorsal trunk specific anlage)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dorsomedial neurosecretory cell)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Duchenne muscular dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ductal adenocarcinoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ductal breast carcinoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_plant embryo)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_embryonic anal pad)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_embryonic antennal sense organ)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_embryonic brain)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_embryonic central brain)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_embryonic central brain glia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_embryonic central brain mushroom body)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_embryonic central brain neuron)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_embryonic central brain pars intercerebralis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_embryonic central brain surface glia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_embryonic dorsal apodeme)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_embryonic dorsal epidermis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_embryonic epipharynx)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_embryonic esophageal ganglion)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_embryonic esophagus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_embryonic foregut)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_embryonic foregut sensory structure)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_embryonic frontal ganglion)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_embryonic ganglion mother cell)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_embryonic gastric caecum)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Emery-Dreifuss muscular dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_environment)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_epithelial cell of lung)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_event distant metastases)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_experiment type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_experimental design)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_facioscapulohumeral muscular dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial combined hyperlipidemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_gastrointestinal stromal tumor)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_genetic factor)\n\nSubClassOf( owl:Thing)\n\n# Class: (reproductive system disease)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_brain tumor glioblastoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_glaucoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_glial cell (sensu Vertebrata))\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_glioma)\n\nSubClassOf( owl:Thing)\n\n# Class: (head and neck disorder)\n\nEquivalentClasses( ObjectSomeValuesFrom( ))\nEquivalentClasses( ObjectSomeValuesFrom( ))\n\n# Class: (obsolete_hematological neoplasm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hemopoietic progenitor cell)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary spastic paraplegia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hippocampus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Huntington's disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyperglycemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (immune system disease)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (obsolete_individual genetic characteristic)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_inner cell mass)\n\nSubClassOf( owl:Thing)\n\n# Class: (ischemia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_lobular breast carcinoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_material type)\n\nSubClassOf( owl:Thing)\n\n# Class: (metabolic disease)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( )))))\nSubClassOf( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (obsolete_mitochondrial disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mixed lobular and ductal breast carcinoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_motoneuron)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_C57BL/6 (duplicate))\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mouse strain)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_narcolepsy with cataplexy)\n\nSubClassOf( owl:Thing)\n\n# Class: (neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_nerve cell)\n\nSubClassOf( owl:Thing)\n\n# Class: (nervous system disease)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (obsolete_nucleic acid extracted)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oligoastroglioma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_organism status)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_percent oxygen)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_percent oxygen concentration)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_phenotypic factor)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_platform)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ploidy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_polymorphonuclear leukocyte)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_porphyria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pretreatment)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_progeria syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_protocol)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_protocol factor)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_rat strain)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_renal clear cell carcinoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (respiratory system disease)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (obsolete_sample factor)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sarcoidosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_schizophrenia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sex)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sickle cell disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_strain)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_strain factor)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_time before disease progression)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_time to development of distant metastases)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tumor)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_virus strain)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_white blood cell)\n\nSubClassOf( owl:Thing)\n\n# Class: (proteomic profiling)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (antigen profiling)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (ChIP-Chip)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (comparative genomic hybridization by array)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (genotyping)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (methylation profiling)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (microRNA profiling by array)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_re-sequencing)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_colorectal carcinoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_muscular dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_limb-girdle muscular dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_normal)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary leiomyomatosis and renal cell cancer)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tuberculosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_animal component)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_plant component)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_adipose tissue)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cardiovascular system)\n\nSubClassOf( owl:Thing)\n\n# Class: (craniofacial tissue)\n\nEquivalentClasses( ObjectSomeValuesFrom( ))\n\n# Class: (obsolete_digestive system component)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_animal fluid)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_gland)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_haemopoietic system)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_appendage)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_liver and biliary system)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_muscular system)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_nervous system)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_renal system)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_respiratory system structure)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sensory system)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_skeletal system)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_integumental system)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_animal reproductive system)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_fat body sensu invertebrata)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_white fat)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_artery)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_heart)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_vein)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_blood vessel)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_carotid artery)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_myocardium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pericardium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_endocardium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mouth structure)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ear)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_eye structure)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_nose structure)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_taste system)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cranium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_retina structure)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tongue)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_intestine)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_esophagus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pharynx structure)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_stomach)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_larynx)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tooth)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_large intestine)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_small intestine)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ascending colon)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_transverse colon)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_descending colon)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sigmoid colon)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_anal region)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_rectum)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_appendix)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_caecum)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_duodenum)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_adrenal medulla)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_gall bladder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mammary gland)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pancreas)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_islet of Langerhans)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pituitary)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_prostate)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_salivary gland)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_thymus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_thyroid)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hatching gland)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neurohemal organ)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pineal gland)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_meninges)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bone marrow)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spleen)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lymphatic system)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lymph)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lymph node)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lymph vessel)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_antenna)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_fin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_vertebrate limb)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autopod)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_zeugopod)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_stylopod)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_digit)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_forelimb)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hindlimb)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_wing)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_haltere)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_liver)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_peripheral nervous system)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sympathetic nervous system)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_parasympathetic nervous system)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_enteric nervous system)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ventral nerve cord)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_somatic nervous system)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ganglion)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dorsal root ganglion)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_body ganglion)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cranial ganglion)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_trigeminal ganglion)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_basal ganglion)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_globus pallidus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_accumbens nucleus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_caudate nucleus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_central nervous system)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_forebrain)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_thalamus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_diencephalon)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_telencephalon)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_frontal lobe)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_parietal lobe)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_occipital lobe)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_visual cortex)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_temporal lobe)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_epithalamus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_midbrain)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tectum)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tegmentum)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_substantia nigra)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hindbrain)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_medulla oblongata)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mushroom body)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pars intercerebralis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pronephros)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mesonephros)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_kidney)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ureter)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_urethra)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bronchus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_gill)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lung)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_trachea)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spiracle)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_diaphragm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sensillum)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_chordotonal organ)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lateral line system)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_axial skeleton structure)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_craniofacial skeleton bone)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_exoskeleton)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_limb bone)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pectoral girdle)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pelvic girdle)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_joint)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_median fin skeleton)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_paired fin skeleton)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dermis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_epidermis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_feather)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_nail)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hair)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pharyngeal arch)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_scale)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_adult segment)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_skin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tail)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_head)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_thorax)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_trunk)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neck)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_abdomen)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_female reproductive system)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_male reproductive system)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hermaphrodite gonad)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_unfertilized egg)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_animal ovary)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oviduct)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_uterus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_vagina)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spermathecum)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_vulva)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cervix)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_endometrium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ductus deferens)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_epididymus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_testis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ejaculatory duct)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_seminal vesicle)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_penis)\n\nSubClassOf( owl:Thing)\n\n# Class: (root structure)\n\nEquivalentClasses( ObjectSomeValuesFrom( ))\n\n# Class: (obsolete_meristem)\n\nSubClassOf( owl:Thing)\n\n# Class: (seed structure)\n\nEquivalentClasses( ObjectSomeValuesFrom( ))\n\n# Class: (obsolete_leaf)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_vascular tissue)\n\nSubClassOf( owl:Thing)\n\n# Class: (plant reproductive system structure)\n\nEquivalentClasses( ObjectSomeValuesFrom( ))\n\n# Class: (obsolete_thallus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_phyllid_v2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_rhizome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_apical root meristem)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_taproot)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_root hair)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_root nodule)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_root cap)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tuber)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cambium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_apical shoot meristem)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_radicle)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_endosperm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_seed coat)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cotyledon)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bud)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_flower structure)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_petal)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sepal)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tepal)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_fruit)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_inflorescence)\n\nSubClassOf( owl:Thing)\n\n# Class: (RNAi profiling by array)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (tiling path by array)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (transcription profiling)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (translation profiling)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_male inflorescence)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_female inflorescence)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_phyllid)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_stomatal complex)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_stem)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bark)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_xylem)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_wood parenchyma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_phloem)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_corm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_stamen)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_carpel)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_plant ovary)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_stigma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cataract)\n\nSubClassOf( owl:Thing)\n\n# Class: (nutritional disorder)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_Rett syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (267B1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (267B1 Ki-ras)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (293T)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (293TsiLL)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (3T3-L1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (600MPE)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (A549)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (AU565)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete_Beas2B)\n\nSubClassOf( owl:Thing)\n\n# Class: (BEAS-2B)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (BJABK3)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (BL41K3)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (BT20)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (BT474)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (BT483)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (BT549)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (C2C12)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (Caco-2)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (CAMA1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (CC531)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (CFT-2)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (CSBwt-rescued fibroblasts)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete_GLI56)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_GLI60)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_GLI72)\n\nSubClassOf( owl:Thing)\n\n# Class: (GM06985)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM06993)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM06994)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM07000)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM07022)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM07034)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM07055)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM07056)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM07345)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM07357)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM11829)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM11830)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM11831)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM11832)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM11839)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM11881)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM11882)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( 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ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12006)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12043)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12044)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12056)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12057)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12144)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12145)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12146)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12154)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12155)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12156)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12234)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12236)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12239)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12248)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12249)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12716)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12717)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12750)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12751)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12760)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12761)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12762)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12763)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12812)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12813)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12814)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12815)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12872)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12873)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12874)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12875)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete_GM12891)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_GM12892)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_H209)\n\nSubClassOf( owl:Thing)\n\n# Class: (H720)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HBL100)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HCC1007)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HCC1143)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HCC1187)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( 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ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HCC2185)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HCC3153)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HCC38)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HCC70)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HEK293)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HEK-293H)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HEK293T)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HeLa)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HepaRG)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HepG2)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HMEC)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HMEC S1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HMEC184)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HMT3522S1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HS578T)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HT-29)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (IB3-1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (IMR-32)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (IMR-90)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (Kin-S49)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (L3055)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (LY2)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (MCF 10A)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (MCF12A)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (MCF-7)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: 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(MDAMB435)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (MDAMB436)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (MDAMB453)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (MDAMB468)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (Met5A)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (MM1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (MOLT-4)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (NCI-H929)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (NIH3T3)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (NIH3T3-L1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (PAC2)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (PC12)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (R18)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (R28)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (R43)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (R46)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (R8)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (RAW264.7)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (RKO)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (S2)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (S49)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SKBR3)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SKGT4)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SUM1315MO2)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SUM149PT)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SUM159PT)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SUM185PE)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SUM190PT)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SUM225CWN)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SUM44PE)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SUM52PE)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (T47D)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (TERV)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (TERV-AntiSenseB56)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (TERV-ST)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (TERV-ST110)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (THP-1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (U266)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (U373)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete_U87)\n\nSubClassOf( owl:Thing)\n\n# Class: (U937)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (UACC812)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (UBOC1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (WI38)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ZF4)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ZR751)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ZR7530)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ZR75B)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete_female)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_male)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hermaphrodite)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_blastula stage)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cleavage stage)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_gastrula stage)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_juvenile stage)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_larval stage)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pharyngula stage)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_fetus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Drosophila melanogaster strain)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_C57BL/6J)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_jejunum)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ileum)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_behavioural disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (familial amyotrophic lateral sclerosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (sporadic amyotrophic lateral sclerosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_type I diabetes mellitus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_type II diabetes mellitus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pulmonary arterial hypertension)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_inner ear structure)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_organ of corti)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dentate gyrus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_embryo stage)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_intercostal muscle)\n\nSubClassOf( owl:Thing)\n\n# Class: (vertebral column structure)\n\nEquivalentClasses( ObjectSomeValuesFrom( ))\n\n# Class: (obsolete_intervertebral disc)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_vertebra)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_precentral gyrus)\n\nSubClassOf( owl:Thing)\n\n# Class: (endocrine system disease)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_Peyer's patch)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_postcentral gyrus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_prefrontal cortex)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tibialis anterior muscle)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_uvula)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_submandibular gland)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_laryngopharynx)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lacrimal gland)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_corpus callosum)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_somatosensory cortex)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_subthalamic nucleus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_synovial membrane)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pons)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_axilla)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_femur)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_inguinal region)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_humerus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pulmonary artery)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_scapula)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tonsil)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_trigeminal nerve)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_corneal limbus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_back)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_extraembryonic tissue)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_placenta)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ankle)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_arm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_leg)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_deltoid)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_gastrocnemius)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_umbilical cord)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sciatic nerve)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_biceps femoris)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sepsis)\n\nSubClassOf( owl:Thing)\n\n# Class: (liver disease)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_masseter muscle)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_race)\n\nSubClassOf( owl:Thing)\n\n# Class: (DNA assay)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (RNA assay)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (protein assay)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (obsolete_antibiotic)\n\nSubClassOf( owl:Thing)\n\n# Class: (B cell derived cell line)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\n\n# Class: (epithelial cell derived cell line)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\n\n# Class: (lymphoid neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (kidney derived cell line)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete_stria vascularis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_anlage)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_foreskin)\n\nSubClassOf( owl:Thing)\n\n# Class: (CEM/C1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete_influenza infection)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mediastinal lymph node)\n\nSubClassOf( owl:Thing)\n\n# Class: (array manufacturer)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( )))\n\n# Class: (biomaterial provider)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( )))\n\n# Class: (biosequence provider)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( )))\n\n# Class: (consortium member)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( )))\n\n# Class: (data analyst)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( )))\n\n# Class: (data coder)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( )))\n\n# Class: (funder)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( )))\n\n# Class: (hardware manufacturer)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( )))\n\n# Class: (investigator)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( )))\n\n# Class: (software manufacturer)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( )))\n\n# Class: (submitter)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( )))\n\n# Class: (obsolete_ex vivo design)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_in vitro design)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_in vivo design)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_disease state design)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_family history design)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_articular cartilage)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_basal plate)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_blood plasma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_capillary)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_caudal fin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_caudal ganglionic eminence)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_caudate putamen)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cervix epithelium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_brain ventricle)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_choroid plexus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_conjunctival epithelium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_corneal epithelium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_decidua basalis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dorsal raphe nucleus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_entorhinal cortex)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_extraocular muscle)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_female accessory gland)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_floor of mouth)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_flower bud)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_gum)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_gynoecium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_head capsule)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hindlimb muscle)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hip)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypoblast)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypocotyl)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypopharynx)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_wing disc)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_vomeronasal organ)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ventral tegmental area)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ventral striatum)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_vastus lateralis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_quadricep muscle)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_urine)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_umbilical vein)\n\nSubClassOf( owl:Thing)\n\n# Class: (blood component)\n\nEquivalentClasses( ObjectSomeValuesFrom( ))\n\n# Class: (obsolete_umbilical cord blood)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_thigh)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_superior temporal gyrus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_superior cervical ganglion)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_soleus muscle)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_shoot apex)\n\nSubClassOf( owl:Thing)\n\n# Class: (shoot component)\n\nEquivalentClasses( ObjectSomeValuesFrom( ))\n\n# Class: (obsolete_muscle)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_midgut)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_inferior parietal lobule)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_internal carotid artery)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_external carotid artery)\n\nSubClassOf( owl:Thing)\n\n# Class: (division of carotid artery)\n\nEquivalentClasses( ObjectSomeValuesFrom( ))\n\n# Class: (heart component)\n\nEquivalentClasses( ObjectSomeValuesFrom( ))\n\n# Class: (obsolete_interventricular septum)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_knee joint)\n\nSubClassOf( owl:Thing)\n\n# Class: (joint component)\n\nEquivalentClasses( ObjectSomeValuesFrom( ))\n\n# Class: (obsolete_lateral root)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lateral ventricle)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_brain stem)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_locus coeruleus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_male accessory gland)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mandible)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ligament)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_medial geniculate nucleus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_medulla of thymus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_myometrium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_nucleus of terminal stria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_olfactory epithelium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_olfactory system)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_optic disc)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oral cavity)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oropharynx)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_palatine tonsil)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_perirhinal cortex)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_plantaris muscle)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pleura)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mesoderm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_presomitic mesoderm)\n\nSubClassOf( owl:Thing)\n\n# Class: (leaf component)\n\nEquivalentClasses( ObjectSomeValuesFrom( ))\n\n# Class: (obsolete_rosette leaf)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pulmonary alveolus)\n\nSubClassOf( owl:Thing)\n\n# Class: (lung structure)\n\nEquivalentClasses( ObjectSomeValuesFrom( ))\n\n# Class: (obsolete_cerebral peduncle)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lateral geniculate nucleus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_orbitofrontal cortex)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_superior frontal gyrus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_seedling)\n\nSubClassOf( owl:Thing)\n\n# Class: (fibroblast derived cell line)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\n\n# Class: (Ara-C-resistant murine leukemia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (Ara-C-sensitive parental cell line)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (G1E)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (murine neuroblastoma cholinergic cell line)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (4T1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (66cl4)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (67NR)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (B117H)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (B117P)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (B140H)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( 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ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (A427)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (A498)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (A673)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (A7)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ACHN)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (AGS)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( 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ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SW684)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SW756)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SW780)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SW837)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SW872)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SW900)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SW948)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SW954)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SW962)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SW982)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SiHa)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (TANOUE)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete_THP1)\n\nSubClassOf( owl:Thing)\n\n# Class: (TT)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (Toledo)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete_U266B1)\n\nSubClassOf( owl:Thing)\n\n# Class: (UACC893)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (UMC11)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete_UMUC3)\n\nSubClassOf( owl:Thing)\n\n# Class: (WIDR)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (WM115)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete_Wi38)\n\nSubClassOf( owl:Thing)\n\n# Class: (Y79)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete_YAPC)\n\nSubClassOf( owl:Thing)\n\n# Class: (ovarian cancer cell lines)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectUnionOf( )))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( )))\n\n# Class: (obsolete_oocyte)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hippocampus CA1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hippocampus CA2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hippocampus CA3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hippocampus CA4)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_nucleus accumbens core)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_nucleus accumbens shell)\n\nSubClassOf( owl:Thing)\n\n# Class: (skeletal system disease)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (obsolete_geniculate nucleus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hair follicle)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_inferior colliculus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_middle temporal gyrus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_motor cortex)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oculomotor nucleus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_paraventricular nucleus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_periaqueductal gray)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_posterior cingulate cortex)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_somatomotor cortex)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_superior colliculus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_suprachiasmatic nucleus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_supraoptic nucleus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_accelerated neurological senescence)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_multiple system atrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_osteoarthritis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Parkinson's disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (simple cystadenoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_supranuclear palsy, progressive)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_alveolus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_corneal stroma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ductus arteriosus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_inferior ganglion of vagus nerve)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cerebral hemisphere)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_preoptic area)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_abdominal aorta)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_thoracic aorta)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_descending thoracic aorta)\n\nSubClassOf( owl:Thing)\n\n# Class: (INS-1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete_islet cell)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_endoderm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_endothelium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_vagus nerve)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_brachiocephalic artery)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_coronary artery)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_renal artery)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tongue mucosa)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_gastric fundus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pyloric antrum)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pancreatic duct epithelium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_parotid gland)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ciliary ganglion)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_definitive endoderm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_renal branch of vagus nerve)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_carotid artery endothelium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_aorta endothelium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal portion of anterior interventricular branch of left coronary artery)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal portion of circumflex branch of left coronary artery)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal portion of right coronary artery)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_proximal portion of anterior interventricular branch of left coronary artery)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_proximal portion of circumflex branch of left coronary artery)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_proximal portion of right coronary artery)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_gene)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_experiment)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary breast and ovarian cancer)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pituitary adenoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primary hyperparathyroidism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinocerebellar ataxia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_teratozoospermia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_arrhythmogenic right ventricular cardiomyopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_left ventricular noncompaction)\n\nSubClassOf( owl:Thing)\n\n# Class: (MDCC-MSB1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete_pupa)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_rosette stage)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_myelodysplastic syndrome (MDS)-like)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_systemic lupus erythematosus)\n\nSubClassOf( owl:Thing)\n\n# Class: (ChIP-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (DNA-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_RNA-seq)\n\nSubClassOf( owl:Thing)\n\n# Class: (assay by array)\n\nEquivalentClasses( ObjectSomeValuesFrom( ))\n\n# Class: (assay by high throughput sequencer)\n\nEquivalentClasses( ObjectSomeValuesFrom( ))\n\n# Class: (HPL1B)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SM1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (NT-1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SCN2.2)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (BxPC-3)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (COLO357)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (F13)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (KIF5)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (Panc1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (Panc89)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (PancTUI)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (Pt45P1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SH-SY5Y)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete_tail bud)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ChIP-seq by high throughput sequencing)\n\nSubClassOf( owl:Thing)\n\n# Class: (assay by mass spectrometry)\n\nEquivalentClasses( ObjectSomeValuesFrom( ))\n\n# Class: (H0287)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (Normal Human Astrocytes)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (BG02ES)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (BJ)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete_chorion)\n\nSubClassOf( owl:Thing)\n\n# Class: (chorion cell line)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (glioblastoma H54)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM06990)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12878)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12891)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12892)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM18507)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM19238)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM19239)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM19240)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HeLa-S3)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HGF)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HL-60)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HRE)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HUVEC cell line)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (Jurkat)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (LHSR)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (NB4)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (NHEK)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SAEC)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SKMC)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SK-N-SH_RA)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (TH-1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (TH-2)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete_pelvis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_retroperitoneum)\n\nSubClassOf( owl:Thing)\n\n# Class: (4470)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (4475)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (4483)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (1205-Lu)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (3T3-F442A)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (AB2.2)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ABC-1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (AZ-521)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (BJAB)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (C3H10T1/2)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (Caco-2/TC7)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (CADO ES1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (Calu3)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (CM7-1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (CTLL-2)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (D10.G4.1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete_H69)\n\nSubClassOf( owl:Thing)\n\n# Class: (HCT116)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete_Jurkat)\n\nSubClassOf( owl:Thing)\n\n# Class: (KS-IMM)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (LC-1F)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (Lu135)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (MIN6)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (MKN1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (MKN28)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (MKN45)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (MKN74)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (MRC5)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (MS-1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (MS428)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (MS589)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (MSTO-211H)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (N231)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (NCI-N87)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (PC-1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (PC-10)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (PC-14)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (PC-6)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (PC-7)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (PC-9)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (QG56)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (R11)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (RERF-LC-AI)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (RERF-LC-KJ)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (RERF-LC-MS)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (RM 82)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SBC-3)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SBC-5)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SCH)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SHEP-SF)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SK-ES-1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SK-N-AS)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SK-N-MC)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SQ-5)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (STA-ET-1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (STA-ET-2.1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (T24)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (TC71)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (TE85)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (TMK1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (TT3E)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (U2OS)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (VH-64)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (WB-F344)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (WE-68)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (WM793)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (WM793-P1N1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (WM793-P2N1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (YCC1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (YCC10)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (YCC11)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (YCC16)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (YCC3)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (YCC6)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (YCC7)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (haemopoietic system cell line)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (mammary gland cell line)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (stem cell derived cell line)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\n\n# Class: (mouse cell line)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\n\n# Class: (Homo sapiens cell line)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\n\n# Class: (prostate derived cell line)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (MKN7)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (microRNA profiling by high throughput sequencing)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_whole organism)\n\nSubClassOf( owl:Thing)\n\n# Class: (Cutaneous T-cell lymphoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_rectal carcinoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_retinoblastoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (lung cancer cell line)\n\nEquivalentClasses( ObjectSomeValuesFrom( ))\n\n# Class: (Drosophila melanogaster cell line)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\n\n# Class: (rat cell line)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\n\n# Class: (lymphoma or leukaemia cell line)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectUnionOf( )))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( )))\n\n# Class: (zebrafish cell line)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\n\n# Class: (transcription profiling by SAGE)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (transcription profiling by MPSS)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_alpha-1-antitrypsin deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (reproductive system cell)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ))))\n\n# Class: (musculo-skeletal system cell)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ))))\nSubClassOf( ObjectIntersectionOf( ObjectSomeValuesFrom( )))\n\n# Class: (2102Ep)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (NTera2)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (BG03)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (NTera2 derived dopaminergic neuronal like cells)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (nervous system cell)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ))))\n\n# Class: (obsolete_endocrine system)\n\nSubClassOf( owl:Thing)\n\n# Class: (muscular disease)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (CMK)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete_colon mucosa)\n\nSubClassOf( owl:Thing)\n\n# Class: (EAhy 926 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (embryonic cell line)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete_esophageal epithelium)\n\nSubClassOf( owl:Thing)\n\n# Class: (H1-hESC)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (NCI-H1299)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (NCI-H460)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (H9)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HES2)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete_ilium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_calf)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_fibula)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_forearm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tibia)\n\nSubClassOf( owl:Thing)\n\n# Class: (LP1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (M14)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete_mediastinum)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_NCIH460)\n\nSubClassOf( owl:Thing)\n\n# Class: (OVCAR3)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete_peroneal nerve)\n\nSubClassOf( owl:Thing)\n\n# Class: (primary cell line)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete_foot)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_rib)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_shoulder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_elbow)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_buttock)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sacrum)\n\nSubClassOf( owl:Thing)\n\n# Class: (SK-N-SH)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ES cell line)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (xanthoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_yolk sac)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked agammaglobulinemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (SK-MEL-28)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (COLO205)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (kidney disease)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_atrial myocardium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ventricular myocardium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinocerebellar ataxia type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinocerebellar ataxia type 7)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinocerebellar ataxia type 17)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neurofibromatosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_adrenocortical carcinoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (Pick disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_meningioma)\n\nSubClassOf( owl:Thing)\n\n# Class: (urinary tract infection)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( )))\n\n# Class: (obsolete_spinal muscular atrophy with respiratory distress)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_alopecia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neuronal ceroid lipofuscinosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_late infantile neuronal ceroid lipofuscinosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pauciarticular juvenile rheumatoid arthritis)\n\nSubClassOf( owl:Thing)\n\n# Class: (EBC-1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (NCI-H125)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (NCI-H1334)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (NCI-H157)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (NCI-H1648)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (NCI-H2279)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (NCI-H2882)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (NCI-H2287)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (NCI-H3255)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (NCI-H520)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (NCI-H820)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HCC1171)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HCC1159)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HCC1359)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HCC15)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HCC193)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HCC366)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HCC4006)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HCC44)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HCC461)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HCC515)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HCC78)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HCC827)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HCC95)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HCjE)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (LC2/AD)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (LK-2)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\n\n# Class: (Lu130)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (CLIP-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_African American)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_American)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Asian)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Asian Indian)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Asian/Pacific Islander)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_British)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Caucasian)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Chinese)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Eastern Indian)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_European-American)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Filipino)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Han Chinese)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Iranian)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Irish)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Japanese)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Korean)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Latino)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Pima Indian)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Hawaiian)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Hispanic)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mesectoderm anlage)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_head mesoderm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_embryonic optic lobe primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_posterior spiracle primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_posterior endoderm anlage)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ventral thoracic disc)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hindgut anlage)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ventral ectoderm anlage)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tracheal primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_foregut anlage)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_visual anlage)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypopharynx anlage)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pericardial cell primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_visceral muscle primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_inclusive hindgut primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_gnathal primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_foregut primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_maxillary sensory complex primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_labial sensory complex primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_labral sensory complex primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_head mesoderm anlage)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_proventriculus primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sensory nervous system primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ventral sensory complex primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ventral imaginal precursor)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_head visceral muscle primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_central brain anlage)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_amnioserosa primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_visceral branch primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_longitudinal visceral muscle primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primary segmental branch primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oenocyte primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hindgut proper primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Malpighian tubule primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_embryonic inner optic lobe primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_visual primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_fat body primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hindgut anlage in statu nascendi)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_visual anlage in statu nascendi)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Malpighian tubule main body primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_small intestine primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_large intestine primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_rectum primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pars intercerebralis primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_salivary gland body primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_somatic muscle primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_midline primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ventral epidermis primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_stomatogastric nervous system primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_central brain primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ventral midline neuroblast)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_embryonic maxillary sensory complex)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_embryonic hindgut)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_embryonic Malpighian tubule tip cell)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_embryonic outer optic lobe primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypopharynx anlage in statu nascendi)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypopharyngeal sense organ primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_embryonic stomatogastric nervous system)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ring gland)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_prothoracic gland)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_capitellum)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pole plasm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_trunk mesoderm anlage)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ventral nerve cord primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ventral midline neuron)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ventral midline glia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_embryonic tracheole)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_embryonic proventriculus inner layer)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_embryonic proventriculus intermediate layer)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_embryonic proventriculus outer layer)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_larval labral segment)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_embryonic labial sensory complex)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_embryonic hypocerebral ganglion)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lateral cord glia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lateral cord neuron)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_embryonic leading edge cell)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_embryonic ventral apodeme)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lateral cord surface glia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ring gland primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cibarium primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_forerunner cell group)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_olfactory placode)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_presumptive segmental plate)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_polster)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_presumptive forebrain)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_presumptive neural plate)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_enveloping layer)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_axial chorda mesoderm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_germ ring)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_liver primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_otic placode)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pectoral fin bud)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_presumptive brain)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_presumptive midbrain)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_trigeminal placode)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pancreas primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_presumptive dorsal mesoderm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_presumptive cephalic mesoderm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_presumptive endoderm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_presumptive spinal cord)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_presumptive blood)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_presumptive hindbrain)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_presumptive telencephalon)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_presumptive diencephalon)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_presumptive paraxial mesoderm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_presumptive shield)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_posterior lateral line placode)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_presumptive midbrain hindbrain boundary)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_presumptive rhombomere 7)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_presumptive rhombomere 6)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_presumptive rhombomere 5)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_presumptive rhombomere 4)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_presumptive rhombomere 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_presumptive rhombomere 8)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_presumptive hypochord)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_presumptive floor plate)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_epibranchial placode)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_vagal placode 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_vagal placode 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_vagal placode 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_vagal placode 4)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neurogenic placode)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_anterior lateral line placode)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_presumptive enteric nervous system)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_presumptive forebrain midbrain boundary)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_anterior pancreatic bud)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_posterior pancreatic bud)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_presumptive ectoderm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_presumptive mesoderm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_fin bud)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pelvic fin bud)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pancreatic bud)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_presumptive ventral fin fold)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_caudal artery)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_floor plate)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_macula utricle)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypochord)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_intermediate cell mass of mesoderm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_median fin fold)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_postoptic commissure)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pronephric mesoderm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_rhombomere 6)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_somite 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_somite 5)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_swim bladder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_trigeminal neural crest)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_trunk mesenchyme)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ventral mesoderm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_apical ectodermal ridge pectoral fin bud)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_apical ectodermal ridge dorsal fin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_blood island)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cardinal system)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_brain vasculature)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_head mesenchyme)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lateral line ganglion)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lens placode)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mandibular lateral line neuromast)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_olfactory pit)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neural keel)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neural rod)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_otic lateral line neuromast)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_rhombomere 8)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tectal ventricle)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ventral mesenchyme)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_basibranchial bone)\n\nAnnotationAssertion( \"UBERON:0004740\")\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_branchial muscle)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bulbus arteriosus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_posterior lateral line nerve)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cleithrum)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dentary)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_granular eminence)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lateral ethmoid)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mandibular muscle)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_metapterygoid)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neuromast)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_opercle)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_paraxial mesoderm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pectoral fin cartilage)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_preopercle)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hair cell posterior macula)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_subopercle)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_medial octavolateralis nucleus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_torus lateralis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ventral telencephalon)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_E-YSL)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cephalic musculature)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_olfactory region)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_heart tube)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pterosphenoid)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_retroarticular)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_anterior lateral line nerve)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_anguloarticular)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_trunk musculature)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_paraventricular organ)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_caudal tuberal nucleus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dorsal telencephalon)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_periventricular grey zone)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyoid muscle)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_marginal blastomere)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_posttemporal)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_otolith organ)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pectoral fin musculature)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_optic primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_prootic)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_statoacoustic (VIII) ganglion)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_torus semicircularis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_valvula cerebelli)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_vertical myoseptum)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_quadrate)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_epihyal)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_caudal tuberculum)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_descending octaval nucleus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dorsal fin musculature)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ectopterygoid)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_entopterygoid)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_gill filament)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_horizontal myoseptum)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyomandibula)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_interopercle)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_segmental intercostal artery)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hair cell anterior macula)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_symplectic)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tangential nucleus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_telencephalic ventricle)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_I-YSL)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_somite 14)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_somite 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_somite 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_basal plate midbrain region)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_floor plate rhombomere 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_floor plate rhombomere 5)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_floor plate rhombomere 8)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinal cord interneuron)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mesenchyme derived from head neural crest)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neural crest diencephalon)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neural crest telencephalon)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_infraorbital lateral line neuromast)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_opercular lateral line neuromast)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_nucleus of the medial longitudinal fasciculus medulla oblongata)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primary neuron hindbrain)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_rhombomere 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_rhombomere 5)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_slow muscle cell somite 14)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_somite 12)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_somite 4)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_floor plate rhombomere 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_floor plate neural rod)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_floor plate rhombomere 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_floor plate rhombomere 6)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_floor plate rhombomere 4)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_floor plate rhombomere 7)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lateral mesenchyme derived from mesoderm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neural crest midbrain)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_middle lateral line neuromast)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_posterior lateral line neuromast)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pectoral fin skeleton)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_posterior lateral line)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_rhombomere 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_rhombomere 7)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_slow muscle cell somite 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_slow muscle cell somite 4)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_slow muscle cell somite 7)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_somite 13)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lateral wall spinal cord)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mesenchyme derived from head mesoderm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mesenchyme pectoral fin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_trunk neural crest)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_occipital lateral line neuromast)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_supraorbital lateral line neuromast)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_rhombomere 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_rhombomere 4)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_slow muscle cell somite 10)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_caudal division of the internal carotid artery)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primitive internal carotid artery)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lateral dorsal aorta)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cranial division of the internal carotid artery)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primitive mesencephalic artery)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_posterior caudal vein)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_rhombomere)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neural arch)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_presumptive pronephric mesoderm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_axial vasculature)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_intestinal bulb)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_thymus primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_chordo neural hinge)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ventricular zone)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_myoseptum)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pharyngeal endoderm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pharyngeal pouch)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_granulosa cell layer)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_thecal cell layer)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_urogenital papilla)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pharyngeal pouch 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pharyngeal pouches 2-6)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pharyngeal pouch 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pharyngeal pouch 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pharyngeal pouch 6)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pharyngeal pouch 5)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pharyngeal pouch 4)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tooth 5V)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tooth 4V)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tooth 3V)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_posterior lateral line primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_anal fin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_non neural ectoderm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pelvic fin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cranial neural crest)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_corpuscles of Stannius)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_axial mesoderm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_epibranchial 5)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lateral floor plate)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ventricular system)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_gonad primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ovarian follicle stage I)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ovarian follicle stage IV)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ovarian follicle stage II)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ovarian follicle stage III)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cranial vasculature)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_regenerating fin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_blastema)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_palatoquadrate arch)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ventral mandibular arch)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_branchiostegal ray 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_branchiostegal ray 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_branchiostegal ray 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_intersegmental vessel)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_caudal vein plexus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_renal tubule)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_renal glomerulus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ciliary marginal zone)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_facial ganglion)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_vagal ganglion 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_vagal ganglion 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_vagal ganglion 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_vagal ganglion 4)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dorsal anterior lateral line ganglion)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ventral anterior lateral line ganglion)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_posterior lateral line ganglion)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neurocranial trabecula)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_terminal nerve)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pineal complex)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_axial hypoblast)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_apical ectodermal ridge pelvic fin bud)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_regeneration epithelium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_anterior lateral line ganglion)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ventral hyoid arch)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ethmoid cartilage)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyosymplectic cartilage)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primitive olfactory epithelium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_floor plate neural tube)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pharyngeal arch cartilage)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_chondrocranium cartilage)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_anterior lateral line system)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_posterior lateral line system)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_superficial blastomere)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pharyngeal arch 3-7)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_aortic arch)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mid cerebral vein)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primordial midbrain channel)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dorsal longitudinal anastomotic vessel)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ventral wall of dorsal aorta)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_rostral blood island)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_parachordal vessel)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_anterior lateral mesoderm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_posterior lateral mesoderm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_anterior lateral plate mesoderm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_posterior lateral plate mesoderm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_trabecular layer)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_atrioventricular ring)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primordial vasculature)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_vascular cord)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_anterior lateral line primordium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Rohon-Beard neuron)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_liver (Bos taurus))\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_liver (Gallus gallus))\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_liver (Homo sapiens))\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_liver (Macaca fascicularis))\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_liver (Macaca mulatta))\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_liver (Mus musculus))\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_liver (Pan troglodytes))\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_liver (Pongo pygmaeus))\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_liver (Rattus norvegicus))\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_liver (Rattus rattus))\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_kidney (Bos taurus))\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_kidney (Homo sapiens))\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_kidney (Mus musculus))\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_kidney (Pan troglodytes))\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_kidney (Pongon pygmaeus))\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_kidney (Rattus norvegicus))\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_kidney (Rattus rattus))\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lung (Bos taurus))\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lung (Gallus gallus))\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lung (Homo sapiens))\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lung (Macaca fascicularis))\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lung (Mus musculus))\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lung (Rattus norvegicus))\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lung (Rattus rattus))\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lung (Sus scrofa))\n\nSubClassOf( owl:Thing)\n\n# Class: (pooled clone sequencing)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (clone by clone sequencing)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (clone end sequencing)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (whole genome shotgun sequencing)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (random chromosome sequencing)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (random exon sequencing)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (amplicon sequencing)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf(ObjectIntersectionOf( ObjectSomeValuesFrom( )) ObjectIntersectionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (MRE-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (MeDIP-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (MBD-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (MNase-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (DNase-hypersensitivity seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Bisulfite-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (EST sequencing)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (FL-cDNA)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (cerebrovascular disorder)\n\nEquivalentClasses( ObjectSomeValuesFrom( ))\n\n# Class: (obsolete_pain in abdomen)\n\nSubClassOf( owl:Thing)\n\n# Class: (endocrine neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_abdominal fat)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_endocrine system component)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyperlipidemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Job's syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (heart disease)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (carotid artery disease)\n\nEquivalentClasses( ObjectSomeValuesFrom( ))\n\n# Class: (motor neuron disease)\n\nEquivalentClasses( ObjectSomeValuesFrom( ))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_allergy)\n\nSubClassOf( owl:Thing)\n\n# Class: (cytokine)\n\nEquivalentClasses( ObjectSomeValuesFrom( ))\n\n# Class: (laryngeal neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (lung disease)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (bone neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_migraine disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinal muscular atrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (salivary gland neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (spinal cord neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_alcohol dependence)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_chromosome disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (gallbladder disease)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (brain neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_inflammation)\n\nSubClassOf( owl:Thing)\n\n# Class: (retinopathy)\n\nEquivalentClasses( ObjectSomeValuesFrom( ))\n\n# Class: (thyroid neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_bone of lower extremity)\n\nSubClassOf( owl:Thing)\n\n# Class: (ureteral neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_kidney stone)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_intellectual disability)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cardiovascular abnormality)\n\nSubClassOf( owl:Thing)\n\n# Class: (adrenal gland neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (skeleton structure)\n\nEquivalentClasses( ObjectSomeValuesFrom( ))\n\n# Class: (pancreatic neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (pancreactic component)\n\nEquivalentClasses( ObjectSomeValuesFrom( ))\n\n# Class: (obsolete_dementia)\n\nSubClassOf( owl:Thing)\n\n# Class: (urogenital neoplasm)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (obsolete_genitourinary system)\n\nSubClassOf( owl:Thing)\n\n# Class: (kidney neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (breast neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (intermittent vascular claudication)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_aortic valve)\n\nSubClassOf( owl:Thing)\n\n# Class: (appendiceal neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_brain ischemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_multiple sclerosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_metacarpal bone)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_thrombophlebitis)\n\nSubClassOf( owl:Thing)\n\n# Class: (ovarian neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (stomach neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (ciliopathy)\n\nEquivalentClasses( ObjectSomeValuesFrom( ))\n\n# Class: (obsolete_Wiskott-Aldrich syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_venous thrombosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (deep vein thrombosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_refractive error)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_heart conduction system)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_von Willebrand disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (angina pectoris)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_congenital abnormality)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cerebral arteriovenous malformation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cleft palate)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_myopia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mitral valve)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_fatty liver)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_physiological process)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_menorrhagia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Fuchs' endothelial dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Treacher-Collins syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (eye disease)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (MEL cell line)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ESHyb)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete_Roberstonian translocation)\n\nSubClassOf( owl:Thing)\n\n# Class: (MEF cell line)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (NPC)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete_validation type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_seq library strategy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_seq file type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_seq library source)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_seq library selection)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_seq instrument model)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Atlas Quality Control type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Atlas experiment type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_factor type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_validation flag)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_seq file type flag)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_seq library strategy flag)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_seq library source flag)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_seq library selection flag)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_seq instrument model flag)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_QC type flag)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Atlas experiment type flag)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_factor type flag)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_AE experiment type flag)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ArrayExpress experiment type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_achondroplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neurofibromatosis type II)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_acrocephalosyndactylia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Darier's disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Diamond-Blackfan anemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Angelman syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_aniridia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_angioedemas, hereditary)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Machado-Joseph disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_basal cell nevus syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_epidermolytic hyperkeratosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (bundle branch block)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_Caffey disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_campomelic dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_perineum)\n\nSubClassOf( owl:Thing)\n\n# Class: (acatalasia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_central core myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Sotos syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Charcot-Marie-Tooth disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cherubism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Alagille syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cleidocranial dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (whole chromosome random sequencing)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (skin neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Hypertriglyceridemia)\n\nSubClassOf( ObjectIntersectionOf(ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_anorexia nervosa)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Biliary atresia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_marijuana dependence)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_External ear)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_astigmatism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Keratoconus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_brachial artery)\n\nSubClassOf( owl:Thing)\n\n# Class: (Graves disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_Hirschsprung disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_iris)\n\nSubClassOf( owl:Thing)\n\n# Class: (male infertility)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_Moyamoya disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_optic nerve)\n\nSubClassOf( owl:Thing)\n\n# Class: (bone disease)\n\nEquivalentClasses( ObjectSomeValuesFrom( ))\n\n# Class: (vascular disease)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (peripheral arterial disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_sick sinus syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (sudden cardiac arrest)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (colonic neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_sneezing)\n\nSubClassOf( owl:Thing)\n\n# Class: (cardiovascular measurement)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (platelet count)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (heart function measurement)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_tooth eruption)\n\nSubClassOf( owl:Thing)\n\n# Class: (hematocrit)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (obsolete_sensation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_taste)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_microgram per milliliter)\n\nSubClassOf( owl:Thing)\n\n# Class: (UCH-1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (FAIRE-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (peer review quality control role)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( )))\n\n# Class: (obsolete_Arabidopsis Growth Stage 6.30)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Arabidopsis Growth Stage 6.50)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Arabidopsis Growth Stage 8.00)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Arabidopsis Growth Stage 9.70)\n\nSubClassOf( owl:Thing)\n\n# Class: (C-reactive protein measurement)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (ferritin measurement)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (soluble transferrin receptor measurement)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (iron biomarker measurement)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (angiotensin converting enzyme activity measurement)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (fasting blood insulin measurement)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (obsolete_C57BL/6)\n\nSubClassOf( owl:Thing)\n\n# Class: (HOMA-IR)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (adiponectin measurement)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (hematological measurement)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (serum hepcidin measurement)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (bone measurement)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_hemoglobin E disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bitter taste sensitivity)\n\nSubClassOf( owl:Thing)\n\n# Class: (mean corpuscular volume)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (mean corpuscular hemoglobin)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (mean corpuscular hemoglobin concentration)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (serum gamma-glutamyl transferase measurement)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (alkaline phosphatase measurement)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (creatine kinase measurement)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (obsolete_bronchopulmonary dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (HbA1c measurement)\n\nSubClassOf( ObjectIntersectionOf( ObjectSomeValuesFrom( )))\n\n# Class: (obsolete_African)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pericardial fat)\n\nSubClassOf( owl:Thing)\n\n# Class: (e-selectin measurement)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (homocysteine measurement)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (obsolete_alanine transaminase measurement)\n\nSubClassOf( owl:Thing)\n\n# Class: (mean platelet volume)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_gamma glutamyl transpeptidase measurement)\n\nSubClassOf( owl:Thing)\n\n# Class: (brachial circumference)\n\nSubClassOf( ObjectIntersectionOf( ObjectSomeValuesFrom( )))\n\n# Class: (obsolete_aspirin induced asthma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_childhood onset asthma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_thyroid stimulating hormone measurement)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_variant Creutzfeld Jacob disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (acute lung injury)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_triglyceride measurement)\n\nSubClassOf( owl:Thing)\n\n# Class: (apolipoprotein A 1 measurement)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (osteoarthritis, knee)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (prostate specific antigen measurement)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (IGFBP-3 measurement)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (IGF-1 measurement)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (haptoglobin measurement)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (obsolete_coronory artery calcification)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_response to methylphenidate)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_response to flurouracil)\n\nSubClassOf( owl:Thing)\n\n# Class: (beta-amyloid 1-42 measurement)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_response to gemcitabine)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_response to lapatinib)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_response to antidepressant)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_response to diruetic)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_response to anticonvulsant)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_response to statin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_response to glucocorticoid)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_response to interferon beta)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_response to lithium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_inherited arrhythmia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_long QT syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Jervell and Lange-Nielsen syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_short QT syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Brugada syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Catecholaminergic polymorphic ventricular tachycardia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_fetal hemoglobin measurement)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_response to iloperidone)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_orofacial cleft)\n\nSubClassOf( owl:Thing)\n\n# Class: (MRI defined brain infarct)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_thyrotoxic periodic paralysis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Gaucher disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (coronary artery calcification)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_metabolite)\n\nSubClassOf( owl:Thing)\n\n# Class: (hormone measurement)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (anti-cyclic citrullinated peptide antibody measurement)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (circulating cell free DNA measurement)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (parathyroid hormone measurement)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (t-tau measurement)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (uric acid measurement)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (vascular endothelial growth factor measurement)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (skin sensitivity to sun)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_freckling)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Li-Fraumeni syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (L lactate dehydrogenase measurement)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (interleukin-8 measurement)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (resistin measurement)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_behavior or behavioral disorder measurement)\n\nSubClassOf( owl:Thing)\n\n# Class: (neutrophil count)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (obsolete_alcohol consumption)\n\nSubClassOf( owl:Thing)\n\n# Class: (eosinophil count)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (abdominal aortic artery calcification)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (phosphorus measurement)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (autoantibody measurement)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (YKL40 measurement)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (obsolete_avelline corneal dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Blepharophimosis-Ptosis-Epicanthus inversus syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tetralogy of fallot)\n\nSubClassOf( owl:Thing)\n\n# Class: (Tourette syndrome)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_Yoruba)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Northern and Western European)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary genetic disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (testosterone measurement)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (familial hypercholesterolemia)\n\nSubClassOf( ObjectIntersectionOf(ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))\n\n# Class: (vaspin measurement)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (GM00038)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM00719)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete_ataxia telangiectasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (complement C3 measurement)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (complement C4 measurement)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (embryonal carcinoma cell)\n\nSubClassOf( ObjectIntersectionOf( ObjectSomeValuesFrom( )))\n\n# Class: (obsolete_embryoid body)\n\nSubClassOf( owl:Thing)\n\n# Class: (J1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\n\n# Class: (454 Sequencing)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_response to temozolomide)\n\nSubClassOf( owl:Thing)\n\n# Class: (QRS complex)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (myoglobin measurement)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (testicular carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (monocyte count)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (obsolete_abdominal wall)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bronchiole)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cortical collecting duct)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_stele)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_flag leaf)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_anther)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_filament)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_antennal disc)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_eye disc)\n\nSubClassOf( owl:Thing)\n\n# Class: (lipid or lipoprotein measurement)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_collective leaf structure)\n\nSubClassOf( owl:Thing)\n\n# Class: (CCL5 measurement)\n\nSubClassOf( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (cancer biomarker measurement)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( )))))\n\n# Class: (5-HIAA measurement)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (conduction system disorder)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (C-peptide measurement)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (obsolete_red blood cell distribution width)\n\nSubClassOf( owl:Thing)\n\n# Class: (beta-2 microglobulin measurement)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (antiphospholipid antibody measurement)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (oligoclonal band measurement)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (hepatoma cell line)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (TraDIS sequencing)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (GRO-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (ECC-1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (CH12.LX)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (PFSK-1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (primitive neuroectodermal tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (NT2/D1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (U-87 MG)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (mitral annular calcification)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (TOV-112D)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (Ect1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (MOLT-3)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (serum copper measurement)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (HS-5)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HS-27A)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (L-1210)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (A20)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (lymphoblastoid cell line)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( )))))))\n\n# Class: (obsolete_migraine with aura)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_migraine without aura)\n\nSubClassOf( owl:Thing)\n\n# Class: (ChIP-exo)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (GM18505)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM08714)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM10248)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM10266)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM10847)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12864)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12865)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12866)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12867)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12868)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12869)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12870)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM12871)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM13976)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM13977)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM15510)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM18526)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM18951)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM19099)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM19193)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM20000)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( )))\n\n# Class: (GM12801)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HUES1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (CAL120)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (CAL148)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (CAL51)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (CAL851)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (CCD-11Lu)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (CCD-13Lu)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (CCD-16Lu)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (CCD-19Lu)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (CCD-25Lu)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (CCD-29Lu)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (CCD-33Lu)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (CCD-8Lu)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HFL1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (Granta-519)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HCC2998)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HCC1195)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HCC1419)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HCC1806)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HCC227)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HCC2935)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (UACC-257)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (UACC-62)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HepG3)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HMEC1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HuH-7)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (IGROV-1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (INA-6)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectIntersectionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))))\n\n# Class: (JeKo-1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (JIMT-1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (KARPAS 231)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (KARPAS 299)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (LA-N-1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (LAPC-4)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (LAPC-9)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (MLO-Y4)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (MUTZ-3)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (exome sequencing)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (colorectal adenoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( )))\n\n# Class: (serum alpha-1-antitrypsin measurement)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (serum ST2 measurement)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (DU 145)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (OVCAR4)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (OVCAR5)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (OVCAR8)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (PEO1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (PEO14)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (PEO23)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (PEO4)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (PEO6)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SF126)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SF268)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SF295)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SF539)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SHEF-1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SHEF-3)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SHEP-2)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SK-MM-1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SK-MM-2)\n\nSubClassOf( ObjectIntersectionOf( ObjectSomeValuesFrom( )))\n\n# Class: (obsolete_SK-N-F1)\n\nSubClassOf( owl:Thing)\n\n# Class: (SKI-DCLC)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SUDHL1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SW527)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (BL-2)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (JVM-2)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete_KARPAS 422)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_U-266)\n\nSubClassOf( owl:Thing)\n\n# Class: (Z-138)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (MEL-GATA-1-ER)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (Patski)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (416B)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ES-Bruce4)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (46C)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (TT2)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (J185a)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete_gonad)\n\nSubClassOf( owl:Thing)\n\n# Class: (RIP-Chip by array)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (nitric oxide exhalation measurement)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (adrenal gland disease)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (bone development disease)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (glioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (congenital disorder of glycosylation type I)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (congenital disorder of glycosylation type II)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (eccrine sweat gland cancer)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_hypercalcemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_penis carcinoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (pernicious anemia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (shigellosis)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (steroid inherited metabolic disorder)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (sweat gland carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (vitamin metabolic disorder)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (abdominal aortic fatty streak)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (abdominal aortic raised atherosclerotic lesion)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (coronary artery raised atherosclerotic lesion)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (thoracic aortic fatty streak)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (thoracic aortic raised atherosclerotic lesion)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (1182-4H)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (CME-L1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (thyroid peroxidase antibody measurement)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_conotruncal heart defect)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_plant callus)\n\nSubClassOf( owl:Thing)\n\n# Class: (KMS-11)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (D721Med)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (M059J)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (Daoy)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (TTC549)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (malignant rhabdoid tumour)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (A204.1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (G401.6)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HuH-7.5)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (olfactory neurosphere cell line)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (Mel-2183)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (786-0)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HTR8/SVneo)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HFF-Myc)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HPDE6-E6E7)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (RPMI-7951)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (8988T)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (LHCN-M2)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (WERI-Rb-1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (Ishikawa)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (Karpas 422)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SK-MEL-5)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SK-N-DZ)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SJCRH30)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM23248)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (MM.1S)\n\nSubClassOf( ObjectIntersectionOf( ObjectSomeValuesFrom( )))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (BE(2)-C)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (LNCaP clone FGC)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (bronchial epithelial cell derived cell line)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( )))))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\n\n# Class: (endothelial cell derived cell line)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\n\n# Class: (cardiac myocyte cell derived cell line)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( )))))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\n\n# Class: (muscle cell derived cell line)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\n\n# Class: (smooth muscle cell derived cell line)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\n\n# Class: (bronchial smooth muscle cell derived cell line)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\n\n# Class: (ESC derived cell line)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete_induced pluripotent stem cell)\n\nSubClassOf( owl:Thing)\n\n# Class: (iPSC derived cell line)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\n\n# Class: (infectious disease)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (lung fibroblast derived cell line)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectUnionOf( ) ObjectSomeValuesFrom( ))))))\n\n# Class: (CME-W1-Cl.8+)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (CME-W2)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (fGS/OSS)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (G2)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM2)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (eye inflammation)\n\nEquivalentClasses( ObjectSomeValuesFrom( ))\n\n# Class: (ocular vascular disease)\n\nEquivalentClasses( ObjectSomeValuesFrom( ))\n\n# Class: (parathyroid disease)\n\nEquivalentClasses( ObjectSomeValuesFrom( ))\n\n# Class: (rheumatic disease)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectUnionOf( )))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( )))\n\n# Class: (vaginal inflammation)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (serum carcinoembryonic antigen measurement)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (obsolete_response to haloperidol)\n\nSubClassOf( owl:Thing)\n\n# Class: (rheumatoid factor measurement)\n\nSubClassOf( ObjectUnionOf(ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )) ObjectSomeValuesFrom( )))\n\n# Class: (calcium metabolic disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (ovarian disease)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (neurodegenerative disease)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (aortic disease)\n\nEquivalentClasses( ObjectSomeValuesFrom( ))\n\n# Class: (obsolete_Arabidopsis Growth Stage 6.10)\n\nSubClassOf( owl:Thing)\n\n# Class: (cartilage disease)\n\nEquivalentClasses( ObjectSomeValuesFrom( ))\n\n# Class: (hematologic disease)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (polycythemia)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (type II hypersensitivity reaction disease)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (tauopathy)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Kc167)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (mbn2)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ML-DmBG1-c1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ML-DmBG2-c2)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ML-DmBG3-c2)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ML-DmD11)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ML-DmD16-c3)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ML-DmD17-c3)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ML-DmD20-c2)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ML-DmD20-c5)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ML-DmD21)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ML-DmD32)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ML-DmD4-c1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ML-DmD8)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ML-DmD9)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (OSC)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (OSS)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (S2-DRSC)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (S2R+)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (S3)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (Sg4)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete_colorectal cancer)\n\nSubClassOf( owl:Thing)\n\n# Class: (vitamin deficiency)\n\nSubClassOf( ObjectIntersectionOf(ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( )))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf(ObjectIntersectionOf( ObjectSomeValuesFrom( )) ObjectIntersectionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (obsolete_atrial appendage)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_right atrium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_left atrium)\n\nSubClassOf( owl:Thing)\n\n# Class: (osteoarthritis biomarker measurement)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (obsolete_renal cortex)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_gastroesophageal junction)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_auxin)\n\nSubClassOf( owl:Thing)\n\n# Class: (ELF-1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (KBM-7)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (H7-hESC)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete_Oci-Ly-7)\n\nSubClassOf( owl:Thing)\n\n# Class: (OCI-LY1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete_Oci-Ly-3)\n\nSubClassOf( owl:Thing)\n\n# Class: (HGADFN167)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ES-D3)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (hTERT-HM)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (urothelium cell line)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ZHBTc4-mESC)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (WW6)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ES-CJ7)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (esophageal squamous cell carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (animal disease)\n\nDisjointClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( )))\n\n# Class: (antinuclear antibody measurement)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (head and neck neoplasia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_90-8TL)\n\nSubClassOf( owl:Thing)\n\n# Class: (A431)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ACH-3P)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (AG04450)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ARPE-19)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (DT40)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM15850)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM15851)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM5659)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HPAF1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HPAM1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (JinB8)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (KM12)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (KOPT-K1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (MEC2)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (Mono Mac 6)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (S462)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SHEP)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ST88-14)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (STS26T)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (T265)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete_hyperopia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_age-related cataract)\n\nSubClassOf( owl:Thing)\n\n# Class: (chemotherapy-induced oral mucositis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (serum iron measurement)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (transferrin saturation measurement)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (total iron binding capacity)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (transferrin measurement)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (pulmonary artery-aorta diameter ratio measurement)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (laryngeal squamous cell carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (105KC)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (143B)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (59M)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (C4-2B)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (CAL 27)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (COLO 680N)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (COLO 783)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (COLO 792)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (COLO 800)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (COLO 849)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (COLO 853)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (COLO 857)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (COV318)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (COV362)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (COV434)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (COV504)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (COV644)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (DLD1)\n\nSubClassOf( 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ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (respiratory disease biomarker)\n\nEquivalentClasses( ObjectSomeValuesFrom( ))\n\n# Class: (autoimmune disease biomarker)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (cerebral malaria)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (head and neck malignant neoplasia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_major depressive disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (male breast carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Meniere disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_longissimus dorsi)\n\nSubClassOf( owl:Thing)\n\n# Class: (pancreaticobiliary malunion)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( )))\n\n# Class: (vascular malformation)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (angiopoietin-2 measurement)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (angiopoietin-2 receptor measurement)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (HPL1A)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HPL1C)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HPL1D)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HPL1E)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (fertility measurement)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (acquired aplastic anemia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (severe aplastic anemia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (IgG index)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (myelosuppression)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (3134)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ACC112)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (BG01)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (C0202)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (CyT49)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (DND-41)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ES-E14)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ES-I3)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM06999)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HUES13)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HUES28)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HUES3)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HUES44)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HUES45)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HUES48)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HUES49)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HUES53)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HUES6)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HUES62)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HUES63)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HUES64)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HUES64-derived CD184+)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HUES65)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HUES66)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HUES8)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HUES9)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (iPS DF 19.7)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (iPS DF 19.11)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (iPS DF 4.7)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (iPS DF 6.9)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (iPS-11a)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (iPS-11b)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (iPS-11c)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (iPS-15b)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (iPS-17a)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (iPS-17b)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (iPS-18a)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (iPS-18b)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (iPS-18c)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (iPS-20b)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (iPS-27b)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (iPS-27e)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (iPS-5)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (Loucy)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ML-DmD23)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ML-DmD23-c4)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (NC-NC)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (UCSF4)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (salivary gland lesion)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (lachrymal gland lesion)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (Acanthamoeba keratitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (acute hemorrhagic leukoencephalitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (adenomyoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (alveolar soft part sarcoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (anogenital venereal wart)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (appendicitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (ascariasis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (ascaridiasis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (bird fancier's lung)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (blind loop syndrome)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (campylobacteriosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (central nervous system tuberculosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (cerebral toxoplasmosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (cervical incompetence)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (chickenpox)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Churg-Strauss syndrome)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ciliophora infectious disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (clonorchiasis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (coccidiosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (common cold)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (congenital nystagmus)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (contagious pustular dermatitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (cowpox)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (croup)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (cyclosporiasis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (diaphragm disease)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (dicrocoeliasis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ebstein anomaly)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (echinostomiasis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (emphysematous cholecystitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (endocardial fibroelastosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (enterobiasis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (epidural abscess)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (epiglottitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (eunuchism)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_factor VIII deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (fascioloidiasis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (focal epithelial hyperplasia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (geographic tongue)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_glycogen storage disease I)\n\nSubClassOf( owl:Thing)\n\n# Class: (hand, foot and mouth disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (hantavirus pulmonary syndrome)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (hemopericardium)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (hemorrhagic fever with renal syndrome)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (hepatic tuberculosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (herpangina)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Herpes simplex virus keratitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (HIV-associated nephropathy)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (hordeolum)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (hymenolepiasis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (hyperprolactinemia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (infectious ectromelia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (intestinal cancer)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (islet cell tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Japanese encephalitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_Klippel-Trenaunay syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (laryngeal tuberculosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_Legg-Calve-Perthes Disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (lumpy skin disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (lymphatic system disease)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_Lynch syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (male reproductive organ cancer)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (mandibular cancer)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (maxillary neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (mediastinal cancer)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (meibomian cyst)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (meningoencephalitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (milker's nodule)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (mitral valve stenosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (molluscum contagiosum)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (muscle cancer)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (mushroom workers' lung)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (necatoriasis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (nervous system cancer)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (neuroaspergillosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (oesophagostomiasis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (optic neuritis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (oral tuberculosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (ornithine carbamoyltransferase deficiency)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (paratyphoid fever)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (paronychia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (parotid disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (pericarditis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (peritonsillar abscess)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_pharynx)\n\nSubClassOf( owl:Thing)\n\n# Class: (placenta disease)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (poliomyelitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (postpoliomyelitis syndrome)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (pseudorabies)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (pulmonary blastoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (recurrent pneumonia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (renal tuberculosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (retroperitoneal cancer)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Reye syndrome)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (rhinoscleroma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (scarlet fever)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (septicemic plague)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_sex cord-gonadal stromal tumor)\n\nSubClassOf( owl:Thing)\n\n# Class: (sick building syndrome)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (spleen cancer)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (splenic tuberculosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (staphyloenterotoxemia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (subacute sclerosing panencephalitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (tracheitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Trichomonas vaginitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (trichuriasis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (tricuspid valve stenosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (tropical spastic paraparesis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (urinary schistosomiasis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (vesicoureteral reflux)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (vestibular neuronitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (viral encephalitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (HAP-1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (L1-S8)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (L1-S8R)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (MN1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (RWPE2)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SU-DHL-2)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (chromosome conformation capture assay)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (EH)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (EL)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ELR)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ES-E14TG2a.4)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (VCaP)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (liver dysplastic nodule)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (cartilage thickness measurement)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (petaloid toenail)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (hepcidin:ferritin ratio)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (hepcidin:transferrin saturation ratio)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (multiple keratinocyte carcinoma susceptibility measurement)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (chronic venous insufficiency)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (serum galactose-deficient IgA1 measurement)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (GM23338)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (hFib2-iPS4)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (iPS-NIHi11)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (iPS-NIHi7)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (cerebrospinal fluid volume measurement)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_granulocyte-colony stimulating factor measurement)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_interleukin 1 beta measurement)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_interleukin 12 receptor subunit beta-1 measurement)\n\nSubClassOf( owl:Thing)\n\n# Class: (anti-centromere-antibody-positive systemic scleroderma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (anti-topoisomerase-I-antibody-positive systemic scleroderma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (female infertility)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )) ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_Osteochondrosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (salivary gland disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (peritonitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (female genital tract polyp)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (2b-RAD)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (2P-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (3'T-fill)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (3’-end-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (3’NT method)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (3′-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (3P-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (3-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (4sUDRB-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (5’-GRO-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (5PSeq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Aba-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Advanved Chia-PET)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (AGO-CLIP)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (AHT-ChIP-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (ARS-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Bar-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Barcode-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (BisChIP-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (BLESS)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (BrdU-CLIP)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Break-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (BRIC-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Bru-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (BruChase-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (BruDRB-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (BruUV-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (BS-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (BSAS)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (BSPP)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (CAB-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (CAGEscan)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (caMAB-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (CAP-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Capp-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (CapSeq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Capture-HiC)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (CaptureSeq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (CAST-ChIP)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (CATCH-IT)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (CATCH-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (CEL-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (ChAP-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (CHART)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (ChEC-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Chem-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Chia-PET)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (ChIP-BS-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (ChIPmentation)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (ChIRP)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (CIP-TAP)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Circle-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (CIRS-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (CirSeq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (CLaP)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (CLASH)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (ClickSeq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (CNV-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (COPRO-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (cP-RNA-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (CPT-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (CRE-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (CREST-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (CROP-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (CrY2H-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (CytoSeq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (DamID)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (DAP-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (DArTSeq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (ddRADseq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (DeepCAGE)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Digenome-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Digital RNA)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (DIP-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (DLAF)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (DMS-MapSeq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (DMS-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Dnase I SIM)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_DNase-Seq)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_DNaseI-Seq)\n\nSubClassOf( owl:Thing)\n\n# Class: (DP-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (dRNA-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (DroNc-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Drop-ChIP)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Drop-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Droplet-CirSeq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (DSB-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (DSBCapture)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (dsRNA-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Duplex-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (EC-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (END-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (EnIGMA)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (EPIG-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (epiGBS)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (eWGA)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (ezRAD)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (FACS-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (FAST-iCLIP)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (FAST-SeqS)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (fC-CET)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (fC-Seal)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (fCAB-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_FISSEQ)\n\nSubClassOf( owl:Thing)\n\n# Class: (FiT-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (FlowSeq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Frag-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (FREQ-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (FRISCR)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (FRT-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Fusion-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (G4 ChIP-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (G4-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (GMUCT 1.0)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (GMUCT 2.0)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (GRIL-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (GRIP)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (GRO-CAP)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (gSELEX-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (GT-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (GTI-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (GUIDE-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (HELP-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (hi-CLIP)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Hi-SCL)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Histone meth.)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (HiTS-Flip)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (HITS-RAP)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (hMeDIP-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (HT-ChIP)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (HT-SELEX)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (HTGTS)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (HydEn-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (hyRAD)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (ICE)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (iCLIP)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (icSHAPE)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (iDES)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ig-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (IMS-MDA)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (in-cell SHAPE-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (inDrop)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (ini-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (INSeq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (IVT-SAPAS)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (LAM-HTGTS)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (LIANTI)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (LM-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Look-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (m1A mapping)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (M6A-RIP)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (m6A-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (MAF)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (MAINE-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (MALBAC)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (MARDI)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (MARIO)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (MARS-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (MATQ-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (MBDCap-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (MCC-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (MDA)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (MDS)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (ME-Scan-SVA)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (MeRIP-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Methyl-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (MethylCap-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (miCLIP-m5A)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (miCLIP-m6A)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Micro-C XL)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (MIDAS)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (middRAD)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (MiGS)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (MINCE-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Mint-ChIP)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (MIPSTR)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (MiR‐CLIP)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (MIRA)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (MitoRCA-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (miTRAP)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (mNET-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Mosaic-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (MPE-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (MPRA)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Mseek)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (NanoCAGE)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Nanogrid RNA-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (NET-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (NG Capture-C)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Nm-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (NOIR)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (NOME-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (NS-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (NSCR)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (nuc-ChIP-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (nucleosome sequencing)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (nuc-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Nucleo-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (OK-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (ORGANIC)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (OS-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (oxBS-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (PAIR)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Paired VH:VL Antibody Repertoire Analysis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (PAL-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (PAPERCLIP)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (PAR-CLIP)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (PARE-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (PARIS)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (PARS)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (PARTE)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (PAS-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (PAT-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (PAT–ChIP)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Patch-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (PB-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (PBAT)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (PD-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (PDZ-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (PE RAD-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (PEAT)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Perturb-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (PhIP-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (PIP-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (PLATE-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (PMA)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Pol II CLIP)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Poly(A)-ClickSeq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Pool-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (PRO-cap)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (PRO-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Profiler)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (ProP-PD)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Pseudo-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (PSI-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (PTB-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Pu-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Pvu-Seal-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Quartz-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (restriction-site associated DNA sequencing)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (RAD-tag)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (RAP)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Rapture)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (RARseq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (RBBS)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (RBNS)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (RC-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (RedBS-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Rep-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (RepeatSeq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Repli-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (rG4-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ribo-seq)\n\nSubClassOf( ObjectIntersectionOf( ObjectSomeValuesFrom( )))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (RiboMeth-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ribose-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (RICC-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (RIL-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (RNA-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (RNAtag-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (RNET-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (RPL)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (RRBS)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Safe-SeqS)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (SAPAS)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (SC3-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (scATAC-seq (Microfluidics))\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (scBS-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (scChIP-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (SCI-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (SCL-exo)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (SCMDA)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (scMT-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (scRC-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (single-cell RNA sequencing)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (scRRBS)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (scTHS-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (scWGBS)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_SELEX)\n\nSubClassOf( owl:Thing)\n\n# Class: (SELEX-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Seq-Well)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (SeqZip)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (SHAPE-MaP)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (SHAPE-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (SiMSen-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Simul-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (scATAC-seq (cell index))\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (SITE-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (SLAF-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (SLBS)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (SMA)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Smart-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Smart-seq2)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (SMDB)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (SMiLE-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (SMIT)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (smMIP)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (SMORE-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (snDrop-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (SNES)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (snmC-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_snRNA-seq)\n\nSubClassOf( owl:Thing)\n\n# Class: (sNuc-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Sono-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (SPARE)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (SpDamID)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (SPET-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (SPLAT)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (sRNA-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (SS3-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (SSB-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (ssRNA-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (STATseq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Strand-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (STRT-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (STRT-seq-2i)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Structure-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (SUPeR-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (T-WGBS)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (TAB-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (TaDa)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (TAIL-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (TAmC-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (TARDIS)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (TATL-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (TC-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (TCR Chain Paring)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (TCR-LA-MC PCR)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Term-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (THS-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (TIF-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (TIVA)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (TL-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (TN-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Tomo-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (TRAP-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (TRIBE)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (TruePrime)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (TSS Sequencing)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Tuba-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (UMI Method)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (VDJ-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (VirCapSeq-VERT)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (VirScan)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (WGA-X)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (WGBS)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (X-ChIP-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (YAMAT-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ψ-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (in situ sequencing)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (FISSEQ)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (seqFISH)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (MERFISH)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ex-FISH)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (spatial transcriptomics)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (10x technology)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (synovitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (splenic disease)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Arteritis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_Hyperpigmentation of the skin)\n\nSubClassOf( owl:Thing)\n\n# Class: (arterial occlusive disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (non-typhoidal Salmonella bacteremia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (choroidal melanoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (idiopathic dilated cardiomyopathy)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_number of children ever born measurement)\n\nSubClassOf( owl:Thing)\n\n# Class: (female reproductive endometrioid cancer)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (muscular dystrophy, congenital, with cataracts and intellectual disability)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (myopic macular degeneration)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_Glycosylated Hemoglobin Measurement)\n\nSubClassOf( owl:Thing)\n\n# Class: (cecal neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (skin carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (nicotine dependence symptom count)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (nicotine withdrawal symptom count)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (refractory celiac disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (premature cardiac contractions)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (ventricular ectopy)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (supraventricular ectopy)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (CITE-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Div-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_10x v2)\n\nSubClassOf( owl:Thing)\n\n# Class: (GM20431)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HFFc6)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (F123-CASTx129)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (RUES2)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (chronic central serous retinopathy)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (central nervous system disease)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (peripheral nervous system disease)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (intestinal disease)\n\nSubClassOf( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (BRCAX breast cancer)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (gastric ulcer)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (abnormal vascular wound healing)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_granuloma)\n\nSubClassOf( owl:Thing)\n\n# Class: (corneal disease)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (breast disease)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (spinal cord disease)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (foreign body in gastrointestinal tract)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (aortic valve disease)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (basal ganglia disease)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (biliary tract disease)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (disease of peritoneum)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (esophageal disease)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (female reproductive system disease)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (male reproductive system disease)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (mitral valve disease)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (trigeminal nerve disease)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (AQP4-IgG-positive neuromyelitis optica)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (AQP4-IgG-negative neuromyelitis optica)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (testicular disease)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (prostate disease)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (pancreas disease)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (pituitary gland disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (stomach disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (aneurysm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (anus disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (disease of genitourinary system)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (external ear disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (inner ear disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (laryngeal disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (lens disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (musculoskeletal system disease)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (pregnancy disorder)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (rectal disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (urethral disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (urinary system disease)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (radiation-induced brain injury)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (small intestine enteropathy)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (GM25256)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectIntersectionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))))))\n\n# Class: (periprosthetic osteolysis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (HER2 negative breast carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (lung disease associated with cystic fibrosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (single nucleus RNA sequencing)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (vascular smooth muscle hypertrophy)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (frontal fibrosing alopecia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (lichen planopilaris)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (pulmonary vascular congestion)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (increased heart weight)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (increased cardiac output)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (decreased cardiac output)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (nonischemic cardiomyopathy)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_10x v1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_10x v3)\n\nSubClassOf( owl:Thing)\n\n# Class: (inflammatory disease)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (smFISH)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (SPLiT-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Slide-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_10x 5' v3)\n\nSubClassOf( owl:Thing)\n\n# Class: (post-operative atrial fibrillation)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (post-operative myocardial infarction)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (post-operative delirium)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (post-operative acute kidney injury)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (post-operative stroke)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (diverticular disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (atypical femoral fracture)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (multi-stage Repli-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (TSA-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (NAD-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (CUT&RUN)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (DNA SPRITE)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (RNA-DNA SPRITE)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (MARGI)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Nuc-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Bubble-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (ChIP-BMS)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (scABA-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (UMI-4C)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (ddMDA)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (EpiRADSeq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (eCLIP)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (G&T-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (JBP1-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (MAB-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (RRMAB-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (RASL-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (SCRB-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (DR-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (scM&T-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (scTrio-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (irCLIP)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (CEL-seq2)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (HiChIP)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Omni-ATAC)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (SCTG)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (HiRes-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (m6A-LAIC-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (AGO HITS-CLIP)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (miniARS-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Smart-3Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (PELE-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (AGO-PAR-CLIP)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (PASP)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (RESA-CLIP)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (RESA)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (STAP-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (SPLASH)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (CRISPR-UMI)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Cappable-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Frac-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (HITS-KIN)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (INTACT)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Mu-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (mutARS-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Nano-hmC-Seal)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Nascent-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ren-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Stable-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (STARR-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Start-seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (TAm-Seq)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (liver iron measurement)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (cerebral microbleeds)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (diabetic maculopathy)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (keratinocyte carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (non-lobar intracerebral hemorrhage)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_Popov-Chang syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (thoracic aortic artery calcification)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (gastrointestinal disease)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (blood disease)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (hepatobiliary disease)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (integumentary system disease)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (obsolete_follicular lymphoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Fms-related tyrosine kinase 3 ligand measurement)\n\nSubClassOf( owl:Thing)\n\n# Class: (perineum disease)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (retinal break)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (ocular sarcoidosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (HL-60/S4)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (obsolete_stromal cell of lamina propria of large intestine)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_stromal cell of lamina propria of small intestine)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mesothelial cell of small intestine)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_anti-herpes simplex virus 6 antibody measurement)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_anti-herpes simplex virus 7 antibody measurement)\n\nSubClassOf( owl:Thing)\n\n# Class: (peroxisome biogenesis disorder, complementation group 7)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (NOZ)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (CH12F3)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (campesterol measurement)\n\nSubClassOf( ObjectIntersectionOf( ObjectSomeValuesFrom( )))\n\n# Class: (ethylmalonate measurement)\n\nSubClassOf( ObjectIntersectionOf( ObjectSomeValuesFrom( )))\n\n# Class: (glycerophosphorylcholine measurement)\n\nSubClassOf( ObjectIntersectionOf( ObjectSomeValuesFrom( )))\n\n# Class: (N-acetyltyrosine measurement)\n\nSubClassOf( ObjectIntersectionOf( ObjectSomeValuesFrom( )))\n\n# Class: (N-acetylneuraminate measurement)\n\nSubClassOf( ObjectIntersectionOf( ObjectSomeValuesFrom( )))\n\n# Class: (obsolete_diacylglycerol 36:1 measurement)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_diacylglycerol 36:2 measurement)\n\nSubClassOf( owl:Thing)\n\n# Class: (aortic measurement)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_Creatine measurement)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Inositol measurement)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Theobromine measurement)\n\nSubClassOf( owl:Thing)\n\n# Class: (gist882)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SH-EP1 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (Val cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (CUTLL1 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (76N cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM07166VA7 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (184A1 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (BL-60 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (T5-1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (REN)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (scc12f2)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (KMC-1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HBC4 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (MDA-Panc-28 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (MM1-144)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (NZG0906)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (Fuji cells)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SK-LC-5)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (WT47 cells)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (NA8-MEL cells)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (Me67 cells)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SLB-1 cells)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (Mel202 cells)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (NK3.3 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (WM852 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (D04 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (MM415 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (MM485 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (WM1791c cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (PMWK cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ut7 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (gm9607 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (sum1315)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (b5-589 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (L-428 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HEP-3B cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (T-47D cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ECV304 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM03318 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM02184 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GM05849 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (MT2 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HT-1080 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (TF1 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (AML-193 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (NT2-N cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SK-N-BE(2) cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (Saos-2 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (WS1 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (KM-12C cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HN-5 Cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (MNT-1 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (AG11395 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HBL-1 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (REH cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (hTERT-HME1 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (BOSC-23 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ARP-1 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ALL-SIL cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (hTERT-HPNE cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (L-540 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (RWP-1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (EJ138 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (PEER cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (T1 (174 x CEM.T1) cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (Eca-109 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (YT cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (SK-MEL-37 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (RHEK-1 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (M-07E cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (TOV-21G cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (KOPN-8 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (MUM-2B cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (RCC-4 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HOSE cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (2fTGH cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (C8161.9 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (MEL-JUSO cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (CL1-0 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (CL1-5 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (LIM1215 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (NCCIT cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (ML-1 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (KGN cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (TGW cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (PC-3M cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (553B-mel)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (KP-L-RY)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (LCL2)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (MOLM-14 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (U-343MG cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (GripTite 293 MSR cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (RCC-10 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HB1119 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (AT3ABR cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (Mel-RM cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HS-68 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (3A(tPA-30-1) cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (BE3)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HMC-1-8 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (VMRC-RCW cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HPB-ALL cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (CWR-22 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (T47D-Y)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (HEK-293FT cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (NOMO-1 cell)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\n\n# Class: (RCH-ACV)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (BLaER1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (oxidative stress biomarker measurement)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (obsolete_interleukin-1 alpha measurement)\n\nSubClassOf( owl:Thing)\n\n# Class: (perivascular space measurement)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (Rienhoff syndrome)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (anaplastic lung carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (bladder disease)\n\nEquivalentClasses( ObjectSomeValuesFrom( ))\n\n# Class: (breast synovial sarcoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (cecum adenocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (cecum carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_cervical squamous cell carcinoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (chronic cystitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (cystitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (diffuse intrinsic pontine glioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (ependymoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (gastric adenosquamous carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (gastric tubular adenocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_genetic disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (granulosa cell tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_hydrolethalus syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (indeterminate colitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (infectious colitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (lung carcinoid tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_lung mucoepidermoid carcinoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (meningeal tuberculosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (metaplastic breast carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (nephrosclerosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (ovarian clear cell adenocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (ovarian serous cystadenocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (pancreatic adenocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (pancreatic neuroendocrine tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (papillary lung adenocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (pleomorphic breast carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (pulmonary tuberculosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (sex cord-stromal tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (squamous cell breast carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (thymic lymphoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (tongue squamous cell carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_Wilms tumor(2))\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_carbohydrate metabolic disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (Acinar Prostate Adenocarcinoma, Foamy Gland Variant)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Acinar Prostate Mucinous Adenocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (ACTH-Producing Pituitary Gland Adenoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (ACTH-Producing Pituitary Gland Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Adamantinomatous Craniopharyngioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Adenoid Cystic Breast Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Adenomatoid Odontogenic Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Adrenal Gland Myelolipoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Adrenal Gland Neuroblastoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Adrenal Medullary Hyperplasia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (AIDS-Related Primary Central Nervous System Lymphoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Anal Melanoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Anal Squamous Cell Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Anaplastic (Malignant) Meningioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Angioleiomyoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Angiomatous Meningioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Appendix Hyperplastic Polyp)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ascending Colon Neuroendocrine Tumor G1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Atypical Endometrial Hyperplasia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Atypical Lobular Breast Hyperplasia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Atypical Meningioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Benign Adrenal Gland Pheochromocytoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Benign Brain Neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Benign Childhood Cerebral Neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Benign Conjunctival Neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Benign Kidney Neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Benign Ovarian Brenner Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Benign Ovarian Endometrioid Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Benign Ovarian Mixed Epithelial Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Benign Ovarian Mucinous Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Benign Ovarian Neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Benign Ovarian Surface Epithelial-Stromal Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Benign Renal Pelvis Neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Benign Salivary Gland Myoepithelioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Benign Skin Appendage Neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Benign Smooth Muscle Neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Benign Thyroid Gland Neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Bile Duct Adenoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Biphasic Mesothelioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Bladder Adenocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Bladder Flat Intraepithelial Lesion)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Bladder Inflammatory Myofibroblastic Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Bladder Paraganglioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Bladder Small Cell Neuroendocrine Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Bladder Squamous Cell Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Bone Epithelioid Hemangioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Borderline Exocrine Pancreatic Neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Borderline Fallopian Tube Serous Neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Borderline Ovarian Brenner Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Borderline Ovarian Clear Cell Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Borderline Ovarian Endometrioid Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Borderline Ovarian Mucinous Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Borderline Ovarian Serous Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Borderline Ovarian Surface Epithelial-Stromal Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Brain Stem Glioblastoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Brain Stem Glioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Breast Carcinoma by Gene Expression Profile)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Breast Diffuse Large B-Cell Lymphoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (breast fibrosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Breast Mucosa-Associated Lymphoid Tissue Lymphoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (C-Cell Hyperplasia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Calcifying Nested Epithelial Stromal Tumor of the Liver)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Cardiac Rhabdomyoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_cecum adenocarcinoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (Cecum Neuroendocrine Tumor G1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Cecum Villous Adenoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Central Nervous System Anaplastic Large Cell Lymphoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Central Nervous System Lymphoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Central Nervous System Neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Cerebellar Liponeurocytoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Cervical Adenoid Basal Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Cervical Adenoid Cystic Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Cervical Adenosquamous Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Cervical Clear Cell Adenocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Cervical Endometrioid Adenocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Cervical Glandular Intraepithelial Neoplasia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Cervical Intraepithelial Neoplasia Grade 2/3)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Cervical Large Cell Neuroendocrine Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Cervical Metaplasia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Cervical Mucinous Adenocarcinoma, Villoglandular Variant)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Cervical Small Cell Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (cervical squamous cell carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Cervical Wilms Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Chondroid Chordoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Chordoid Meningioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Choroid Plexus Papilloma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Clear Cell Meningioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Colon Burkitt Lymphoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Colon Dysplasia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Colon Inflammatory Polyp)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Colon Juvenile Polyp)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Colon Mucosa-Associated Lymphoid Tissue Lymphoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_colon neoplasm)\n\nSubClassOf( owl:Thing)\n\n# Class: (Colon Neuroendocrine Tumor G1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Colon Sessile Serrated Adenoma/Polyp)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Colorectal Adenosquamous Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Colorectal Diffuse Large B-Cell Lymphoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Colorectal Gastrointestinal Stromal Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Colorectal Hamartoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Colorectal Juvenile Polyp)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Colorectal Neuroendocrine Tumor G1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Colorectal Serrated Adenocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Colorectal Sessile Serrated Adenoma/Polyp)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Colorectal Squamous Cell Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Columnar Cell Hyperplasia of the Breast)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Combined Lung Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Common Hematopoietic Neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Complex Endometrial Hyperplasia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Conjunctival Disorder)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Conjunctival Melanoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Conjunctival Nevus)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Conjunctival Squamous Cell Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_cortex of kidney)\n\nSubClassOf( owl:Thing)\n\n# Class: (Cortisol-Producing Adrenal Cortex Adenoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Craniopharyngioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Cribriform Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Cutaneous Follicular Lymphoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Cutaneous Undifferentiated Pleomorphic Sarcoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Cystic Nephroma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Diffuse Melanocytosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Digestive System Adenoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Digestive System Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Digestive System Mixed Adenoneuroendocrine Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Disseminated Peritoneal Leiomyomatosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ductal or Ductular Proliferation)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Duodenal Adenocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Duodenal Gastrin-Producing Neuroendocrine Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Duodenal Villous Adenoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Dysplasia in Ulcerative Colitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Dysplasia of Larynx)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Eccrine Porocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Endometrial Clear Cell Adenocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Endometrial Cyst)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Endometrial Endometrioid Adenocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Endometrial Hyperplasia without Atypia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Endometrial Intraepithelial Neoplasia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Endometrial Mucinous Adenocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Endometrial Polyp)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Endometrial Serous Adenocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Endometrial Small Cell Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Endometrial Squamous Cell Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Endometrial Stromal Nodule)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Endometrial Undifferentiated Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Epidermal Inclusion Cyst)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Extrahepatic Bile Duct Adenosquamous Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Extrahepatic Bile Duct Squamous Cell Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Extramammary Paget Disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Fallopian Tube Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Fallopian Tube Carcinosarcoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Fallopian Tube Serous Adenocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Fibroadenoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Fibrous Meningioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Floor of Mouth Mucoepidermoid Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Follicular Variant Thyroid Gland Papillary Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Gallbladder Adenocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Gallbladder Adenoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Gallbladder Adenosquamous Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Gallbladder Biliary Intraepithelial Neoplasia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Gallbladder Small Cell Neuroendocrine Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Gallbladder Squamous Cell Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Gastric Adenoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Gastric Choriocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Gastric Diffuse Large B-Cell Lymphoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Gastric Hamartomatous Polyp)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Gastric Metaplasia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Gastric Mucosa-Associated Lymphoid Tissue Lymphoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Gastric Neuroendocrine Tumor G1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Gastric Small Cell Neuroendocrine Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Gastric Squamous Cell Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_gastric tubular adenocarcinoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (Gastrointestinal Hamartoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Gonadal Teratoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Grade III Prostatic Intraepithelial Neoplasia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Growth Hormone-Producing Pituitary Gland Adenoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Head and Neck Paraganglioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Hemangiopericytic Neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_hemopoietic system)\n\nSubClassOf( owl:Thing)\n\n# Class: (Hepatic Granuloma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Hepatoblastoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Hepatoid Adenocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (HER2 Positive Breast Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Hidradenocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (High Grade Surface Osteosarcoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Histiocytic and Dendritic Cell Neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Hyperplastic Polyp)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ileal Neuroendocrine Tumor G1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Infiltrating Bladder Lymphoepithelioma-Like Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Intestinal Type Adenocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Intimal Sarcoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Intraductal Breast Papilloma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Invasive Breast Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Jejunal Neuroendocrine Tumor G1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Juvenile Polyp)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Kidney Angiomyolipoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Kidney Cyst)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Kidney Medullary Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Kidney Oncocytoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Krukenberg Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Lacrimal Gland Adenoid Cystic Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Laryngeal Adenoid Cystic Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Laryngeal Small Cell Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Liver Cavernous Hemangioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Liver Diffuse Large B-Cell Lymphoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Liver Inflammatory Myofibroblastic Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Liver Neuroendocrine Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Lobular Breast Carcinoma In Situ)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Low Grade Central Osteosarcoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Low Grade Vulvar Intraepithelial Neoplasia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_lung carcioma)\n\nSubClassOf( owl:Thing)\n\n# Class: (Lung Giant Cell Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Lung Inflammatory Myofibroblastic Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Lung Lymphangioleiomyomatosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Lung Papilloma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Lung Sarcomatoid Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Lung Sclerosing Hemangioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Lung Signet Ring Cell Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Lymphangiosarcoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Lymphoepithelioma-Like Lung Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Lymphoplasmacyte-Rich Meningioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_lympoid tissue)\n\nSubClassOf( owl:Thing)\n\n# Class: (Major Salivary Gland Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Major Salivary Gland Carcinoma ex Pleomorphic Adenoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Major Salivary Gland Mucoepidermoid Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Malignancy in Giant Cell Tumor of Bone)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Malignant Adrenal Gland Pheochromocytoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Malignant Bladder Paraganglioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Malignant Bone Neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_malignant epitheloid mesothelioma)\n\nSubClassOf( owl:Thing)\n\n# Class: (Malignant Laryngeal Neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Malignant Mesothelioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Malignant Ovarian Brenner Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Malignant Ovarian Mixed Epithelial Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Malignant Pancreatic Neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Malignant Pleural Neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Malignant Urinary System Neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Mediastinal Malignant Germ Cell Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Mediastinal Neuroblastoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Melanocytoma of the Eyeball)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Meningeal Melanocytoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Meningioangiomatosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Meningothelial Meningioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Metanephric Adenoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_metaplastic Breast Carcinoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (Metaplastic Meningioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Microcystic Meningioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Minor Salivary Gland Adenocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Mixed Cell Uveal Melanoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Mixed Epithelial Stromal Tumor of the Kidney)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Mixed Lobular and Ductal Breast Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Mixed Tumor of the Salivary Gland)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Mixed Tumor of the Skin)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Mucinous Gastric Adenocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_mucinuos carcinoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (Nabothian Cyst)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Nasal Cavity Polyp)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Neoplastic Medium-Sized B-Lymphocyte with Basophilic Cytoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Neuroblastic Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Neurothekeoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Nevus of Ito)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Nevus of Ota)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Non-Functional Pancreatic Neuroendocrine Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Non-Functioning Adrenal Cortex Adenoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Non-Neoplastic Bile Duct Disorder)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Non-Seminomatous Lesion)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Normal Breast-Like Subtype of Breast Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ocular Melanoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ocular Melanoma with Extraocular Extension)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ocular Sebaceous Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Olfactory Neuroblastoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ossifying Renal Tumor of Infancy)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Osteoblastoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Osteochondroma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ovarian Carcinosarcoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ovarian Choriocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ovarian Dysgerminoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ovarian Embryonal Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ovarian Endometrioid Adenocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ovarian Endometriosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ovarian Germ Cell Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ovarian Gonadoblastoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ovarian Granulosa Cell Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ovarian Gynandroblastoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ovarian Leydig Cell Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ovarian Microcystic Stromal Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ovarian Mixed Epithelial Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ovarian Sclerosing Stromal Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ovarian Serous Adenocarcinofibroma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ovarian Serous Adenofibroma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ovarian Sertoli-Leydig Cell Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ovarian Sex Cord Tumor with Annular Tubules)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ovarian Small Cell Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ovarian Squamous Cell Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ovarian Steroid Cell Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ovarian Stromal Luteoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ovarian Transitional Cell Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ovarian Tumor of the Thecoma/Fibroma Group)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ovarian Yolk Sac Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Pancreatic Acinar Cell Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Pancreatic Gastrinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Pancreatic Glucagonoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Pancreatic Large Cell Neuroendocrine Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Pancreatic Precancerous Condition)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Pancreatic Small Cell Neuroendocrine Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Pancreatic Vipoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Pancreatoblastoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Papillary Craniopharyngioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Papillary Meningioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Papillary Tumor of the Pineal Region)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Paranasal Sinus Adenoid Cystic Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Paranasal Sinus Schneiderian Papilloma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Parathyroid Gland Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Parathyroid Hyperplasia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Parotid Gland Acinic Cell Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Parotid Gland Adenoid Cystic Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Parotid Gland Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Parotid Gland Carcinoma ex Pleomorphic Adenoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Parotid Gland Pleomorphic Adenoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Penile Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Penile Fibromatosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Peritoneal Mesothelioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Peritoneal Multicystic Mesothelioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Peritoneal Well Differentiated Papillary Mesothelioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Peutz-Jeghers Polyp)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Peutz-Jeghers Polyp of the Stomach)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Pharyngeal Adenoid Cystic Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Pineal Parenchymal Tumor of Intermediate Differentiation)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Pineoblastoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Pituitary Gland Adenoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Placental Choriocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Placental Hemangioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_pleomorphic breast carcinoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (Pleural Biphasic Mesothelioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Pleural Mesothelioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Pleural Sarcomatoid Mesothelioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Poorly Differentiated Thyroid Gland Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Primary Melanocytic Lesion of Meninges)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Primary Peritoneal Serous Adenocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Prolactin-Producing Pituitary Gland Adenoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Prolactin-Producing Pituitary Gland Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Prostate Rhabdomyosarcoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Prostate Small Cell Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Psammomatous Meningioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Pyloric Gland Adenoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Rectal Hyperplastic Polyp)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Rectal Traditional Serrated Adenoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Rectal Tubular Adenoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Rectal Tubulovillous Adenoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Rectal Villous Adenoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Renal Angiomyoadenomatous Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Retinal Neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Retroperitoneal Inflammatory Myofibroblastic Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Rhabdoid Meningioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Rhabdoid Tumor of the Kidney)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Salivary Gland Acinic Cell Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Salivary Gland Adenosquamous Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Salivary Gland Basal Cell Adenocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Salivary Gland Carcinoma ex Pleomorphic Adenoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Salivary Gland Large Cell Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Salivary Gland Pleomorphic Adenoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Salivary Gland Small Cell Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Sarcomatoid Mesothelioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Secretory Meningioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Sex Hormone-Producing Adrenal Cortex Adenoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Simple Endometrial Hyperplasia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Simple Endometrial Hyperplasia with Atypia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Sinonasal Undifferentiated Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_Sinus Histiocytosis with Massive Lymphadenopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (Skin Basosquamous Cell Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Skin Cavernous Hemangioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Skin Sarcoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (small intestinal adenocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Small Intestinal Burkitt Lymphoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Small Intestinal Diffuse Large B-Cell Lymphoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Small Intestinal Enteropathy-Associated T-Cell Lymphoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Small Intestinal Intraepithelial Neoplasia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Small Intestinal Tubular Adenoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Small Intestinal Tubulovillous Adenoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Solid Pseudopapillary Neoplasm of the Pancreas)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Spinal Chordoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Spinal Cord Astrocytoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Spinal Cord Primitive Neuroectodermal Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Splenic Diffuse Large B-Cell Lymphoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Splenic Hodgkin Lymphoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Splenic Mantle Cell Lymphoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Splenic Marginal Zone Lymphoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Stromal Predominant Kidney Wilms Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Submandibular Gland Adenocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Submandibular Gland Adenoid Cystic Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Synovial Chondromatosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Tenosynovial Giant Cell Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Testicular Choriocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Testicular Embryonal Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Testicular Germ Cell Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Testicular Granulosa Cell Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Testicular Large Cell Calcifying Sertoli Cell Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Testicular Leydig Cell Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Testicular Non-Seminomatous Germ Cell Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Testicular Sclerosing Sertoli Cell Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Testicular Sertoli Cell Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Testicular Teratoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Testicular Yolk Sac Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Thymic Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Thymic Sarcomatoid Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Thymic Small Cell Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Thymic Squamous Cell Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Thymic Undifferentiated Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Thymoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Thymoma Type AB)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Thymoma Type B3)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Thymoma Type B1)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_Thyroid Gland Carcinoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (Thyroid Gland Diffuse Large B-Cell Lymphoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Thyroid Gland Hyalinizing Trabecular Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Thyroid Gland Mixed Medullary and Follicular Cell Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Thyroid Gland Mucoepidermoid Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Thyroid Gland Oncocytic Follicular Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Thyroid Gland Squamous Cell Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Thyroid Gland Undifferentiated (Anaplastic) Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Tibial Adamantinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Tracheal Adenoid Cystic Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Tracheal Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Tracheal Squamous Cell Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Transitional Meningioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Unclassified Renal Cell Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Undifferentiated Gallbladder Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Undifferentiated Ovarian Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Undifferentiated Pancreatic Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ureter Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ureter Small Cell Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Urothelial Dysplasia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Usual Ductal Breast Hyperplasia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Uterine Carcinosarcoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Uterine Corpus Lipoleiomyoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_utering smooth muscle cell)\n\nSubClassOf( owl:Thing)\n\n# Class: (Uveal Melanoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Vaginal Adenoid Cystic Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Vaginal Carcinosarcoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Vaginal Melanoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Vaginal Squamous Cell Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Vagus Nerve Paraganglioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (VIP-Producing Neuroendocrine Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Vulvar Lichen Sclerosus)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Vulvar Squamous Cell Carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Warthin Tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_Wilms tumor (bis))\n\nSubClassOf( owl:Thing)\n\n# Class: (thyroid disease)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (sarcopenia)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (obsolete_Bloch-Sulzberger syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bullous skin disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_incontinentia pigmenti achromians)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_nonepidermolytic palmoplantar keratoderma)\n\nSubClassOf( owl:Thing)\n\n# Class: (pelvic lipomatosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_photoallergic dermatitis)\n\nSubClassOf( owl:Thing)\n\n# Class: (photosensitivity disease)\n\nSubClassOf( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (osteoarthritis, hip)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (osteoarthritis, spine)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (osteoarthritis, toe)\n\nSubClassOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: (acute kidney tubular necrosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (adrenal cortex carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (adrenal gland hyperfunction)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (adrenal rest tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (alcoholic liver cirrhosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (anterior ischemic optic neuropathy)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (aortic valve prolapse)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (arcus senilis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (balanitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (bladder neck obstruction)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (brain stem infarction)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (bronchial neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (burning mouth syndrome)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (cerebral arterial disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (cervix erosion)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (choledocholithiasis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (chromophobe adenoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (chronic interstitial cystitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (CNS demyelinating autoimmune disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (common bile duct neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (corneal edema)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (corneal neovascularization)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_coronary stenosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (cutaneous syphilis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (cystic lymphangioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (dental fluorosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (denture stomatitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (dry eye syndrome)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (duodenal benign neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (duodenogastric reflux)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (dysplasia of cervix)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (empty sella syndrome)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (endocrine tuberculosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (endometrial stromal sarcoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_Erysipelothrix infectious disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (esophageal diverticulosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (extrahepatic cholestasis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (eyelid neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (female genital tuberculosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (gastric antral vascular ectasia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (gastroparesis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (glossitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (gonadal tissue neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (hairy tongue)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (halo nevus)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (hemometra)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (hidrocystoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (hyperpituitarism)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (hypersplenism)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (hypothalamic neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (ileal neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (inappropriate ADH syndrome)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (intestinal perforation)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (intestinal volvulus)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (intracranial hypertension)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (iris cancer)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (jejunal cancer)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (joint disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_keratoconjunctivitis sicca)\n\nSubClassOf( owl:Thing)\n\n# Class: (kidney cortex necrosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (leukoplakia of penis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (low tension glaucoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (lymphangiectasis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (macular holes)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (male genital tuberculosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (malignant lymphatic vessel tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (mastitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (mesothelial neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_Mobius syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (mouth disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_mucoepidermoid tumor)\n\nSubClassOf( owl:Thing)\n\n# Class: (myxosarcoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (necrotizing sialometaplasia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (necrotizing ulcerative gingivitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (neurogenic bowel)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (non-gestational choriocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obstructive jaundice)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (ocular hypertension)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (ocular tuberculosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (oral leukoedema)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (orbital cellulitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (orbital plasma cell granuloma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (orchitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (panophthalmitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (panuveitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (parametritis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (parathyroid adenoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (penile neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (peptic esophagitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (pericoronitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (peritoneal neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (peroneal nerve paralysis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (phimosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (pigmented villonodular synovitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (pituitary apoplexy)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (pituitary dwarfism)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (pituitary-dependent Cushing's disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (pneumatosis cystoides intestinalis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (postcholecystectomy syndrome)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (posterior uveitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (pseudobulbar palsy)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (pulmonary coin lesion)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_pulmonary sclerosing hemangioma)\n\nSubClassOf( owl:Thing)\n\n# Class: (reflex sympathetic dystrophy)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (renal artery obstruction)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (renovascular hypertension)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (retinal artery occlusion)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (retinal drusen)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (retinal vasculitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (retinopathy of prematurity)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (root caries)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (scimitar syndrome)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_sea-blue histiocyte syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (sebaceous gland neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (secondary hyperparathyroidism)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (sialadenitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (sialolithiasis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (sigmoid neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (skin appendage carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (smooth muscle tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (spermatocele)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (splenic infarction)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (subdural empyema)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (suppurative periapical periodontitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (sweat gland neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (sympathetic ophthalmia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (syphilitic aortitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (tethered spinal cord syndrome)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (thyroid crisis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (tibial neuropathy)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (tonsil cancer)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_tooth ankylosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (tooth disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (trigeminal neuralgia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (ureterocele)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (ureterolithiasis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (uveitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (vulvitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (vulvovaginitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_branchio-oto-renal syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (Arterio-Arterial Fistula)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Atrophic Vaginitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_Birt-Hogg-Dube Syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (Brain Stem Hemorrhage, Traumatic)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_Buruli Ulcer)\n\nSubClassOf( owl:Thing)\n\n# Class: (Cholecystitis, Acute)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (lymphocytic colitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (microscopic colitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Coronary-Subclavian Steal Syndrome)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Cytomegalovirus Retinitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Dermatitis, Perioral)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (dumping syndrome)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (End Stage Liver Disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Endometritis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Epiphyses, Slipped)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (eye foreign body)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (Eye Injuries, Penetrating)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Genital neoplasm, female)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Gynatresia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Hammer Toe Syndrome)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_Hearing Loss, Noise-Induced)\n\nSubClassOf( owl:Thing)\n\n# Class: (Heart neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Hemangioma, Cavernous, Central Nervous System)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Hepatitis, Alcoholic)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Leukoplakia, Hairy)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Lung Abscess)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Lupus Vasculitis, Central Nervous System)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Mediastinal Cyst)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Meningomyelocele)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Opsoclonus-Myoclonus Syndrome)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Panniculitis, Peritoneal)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Peliosis Hepatis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Peritoneal Fibrosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Pinta)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_Postthrombotic Syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (Retrobulbar Hemorrhage)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Sertoli Cell-Only Syndrome)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Tachycardia, Reciprocating)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Tracheal neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Trilogy of Fallot)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (Tungiasis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Vaginal neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Ventricular Outflow Obstruction)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Yellow Nail Syndrome)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (amnesia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (auditory system disease)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (obsolete_cognitive disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (diabetic cardiomyopathy)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (diabetic foot)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (endothelial dysfunction)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (gliosarcoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Graves ophthalmopathy)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Merkel cell skin cancer)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (type II diabetes mellitus with acanthosis nigricans)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (liver neoplasm)\n\nSubClassOf( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (abdominal abscess)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Abruptio Placentae)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (brain hypoxia)\n\nEquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (brain stem neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (carcinoid heart disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (central nervous system venous angioma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (female athlete triad syndrome)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (femoral hernia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (femoral neck fracture)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (immunoproliferative small intestinal disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (lingual thyroid)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (myringosclerosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Nasal Septal Perforation)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (nervous system heavy metal poisoning)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (orbital myositis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (pleurisy)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (pulmonary aspergillosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (pyogenic liver abscess)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (rectocele)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (renal nutcracker syndrome)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (respiratory paralysis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Spinal Osteophytosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (staphylococcal skin infections)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (stomach rupture)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (submandibular gland neoplasm)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (subphrenic abscess)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Takayasu arteritis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (testicular hydrocele)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (thymus hyperplasia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (urinary bladder fistula)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Uterine Inertia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (uterine prolapse)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Zenker diverticulum)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (acquired cold urticaria)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (chemotherapy-induced gastrointestinal mucositis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (cold urticaria)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Dendritic keratitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (diffuse alveolar-septal amyloidosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (gastrointestinal mucositis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (mucositis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (oral mucositis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (pulmonary amyloidosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (pulmonary nodular amyloidosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Purpura Fulminans)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (radiation-induced gastrointestinal mucositis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_Renal nutcracker syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (varicose ulcer)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (small intestine neuroendocrine tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (adult acute megakaryoblastic leukemia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (adult acute monocytic leukemia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (adult acute myeloid leukemia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (adult B acute lymphoblastic leukemia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (adult T acute lymphoblastic leukemia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (amelanotic melanoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (B-cell non-Hodgkins lymphoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Barrett adenocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (basaloid squamous cell carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (bronchioloalveolar carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (bronchogenic carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (childhood acute megakaryoblastic leukemia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (childhood acute monocytic leukemia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (childhood acute myeloid leukemia with maturation)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (childhood B acute lymphoblastic leukemia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (childhood T acute lymphoblastic leukemia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (childhood T lymphoblastic lymphoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (colon adenocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (colon carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (colorectal carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (endometrial adenosquamous carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (endometrial endometrioid adenocarcinoma, variant with squamous differentiation)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Epstein-Barr virus-related Burkitts lymphoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (erythroleukemia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (gallbladder carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (hereditary thyroid gland medullary carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (high grade ovarian serous adenocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (hilar cholangiocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (hypopharyngeal squamous cell carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (intrahepatic cholangiocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (ovarian cystadenocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (ovarian mucinous cystadenocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (pancreatic somatostatinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (pharyngeal squamous cell carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (rectosigmoid adenocarcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (salivary gland squamous cell carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (squamous cell breast carcinoma, acantholytic variant)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (thyroid gland sarcoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (ureter urothelial carcinoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (uterine leiomyosarcoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (vulvar leiomyosarcoma)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Alpha-methylacyl-CoA racemase deficiency)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (connective tissue disease)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (pneumonitis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_triple-A syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_juvenile idiopathic arthritis)\n\nSubClassOf( owl:Thing)\n\n# Class: (bronchial disease)\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (oligoarticular juvenile idiopathic arthritis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (polyarticular juvenile idiopathic arthritis, rheumatoid factor negative)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (plantar wart)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_primary hypertension)\n\nSubClassOf( owl:Thing)\n\n# Class: (Corneal astigmatism)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (apocrine sweat gland disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (glomerular disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_48,XXYY syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ocular albinism with late-onset sensorineural deafness)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lissencephaly with cerebellar hypoplasia type A)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lissencephaly with cerebellar hypoplasia type B)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lissencephaly with cerebellar hypoplasia type C)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lissencephaly with cerebellar hypoplasia type D)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lissencephaly with cerebellar hypoplasia type E)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lissencephaly with cerebellar hypoplasia type F)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_esophageal duplication cyst)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tubular duplication of the esophagus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary angioedema type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary angioedema type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary angioedema type 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_semantic dementia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_progressive non-fluent aphasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mosaic trisomy 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Multiple polyglandular tumor)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_2q37 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_alopecia antibody deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_porphyria due to ALA dehydratase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_nuclear oculomotor paralysis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_FRAXE intellectual disability)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_FRAXF syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bathing suit ichthyosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant complex spastic paraplegia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant pure spastic paraplegia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive complex spastic paraplegia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive pure spastic paraplegia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant spastic paraplegia type 9)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant palmoplantar keratoderma and congenital alopecia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Autosomal recessive spastic paraplegia type 20)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Autosomal recessive spastic paraplegia type 21)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Mediterranean macrothrombocytopenia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_transaldolase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sub-cortical nodular heterotopia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_subependymal nodular heterotopia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Female restricted epilepsy with intellectual disability)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial hypofibrinogenemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Autosomal dominant epilepsy with auditory features)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital stromal corneal dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bilateral frontoparietal polymicrogyria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_unilateral hemispheric polymicrogyria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Charcot-Marie-Tooth disease type 1A)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Charcot-Marie-Tooth disease type 1B)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Charcot-Marie-Tooth disease type 1C)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Charcot-Marie-Tooth disease type 1D)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Charcot-Marie-Tooth disease type 1F)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyper-IgM syndrome type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyper-IgM syndrome type 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyper-IgM syndrome type 4)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyper-IgM syndrome type 5)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Charcot-Marie-Tooth disease type 2B2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Marin-Amat syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinocerebellar ataxia type 23)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinocerebellar ataxia type 28)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinocerebellar ataxia type 20)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinocerebellar ataxia type 25)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinocerebellar ataxia type 26)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_porphyria cutanea tarda)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial isolated congenital asplenia)\n\nSubClassOf( owl:Thing)\n\n# Class: (Rare genetic eye disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_genetic cardiac rhythm disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pituitary deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_immunodeficiency predominantly affecting antibody production)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_constitutional neutropenia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Primary immunodeficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_early-onset autosomal dominant Alzheimer disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_classic lissencephaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lissencephaly type 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pure hereditary spastic paraplegia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_complex hereditary spastic paraplegia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive limb-girdle muscular dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_multiple congenital anomalies/dysmorphic syndrome-intellectual disability)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primary glomerular disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive amelia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Genetic optic atrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Amelogenesis imperfecta - nephrocalcinosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyperdibasic aminoaciduria type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_encephalopathy due to beta-mercaptolactate-cysteine disulfiduria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_arthrogryposis multiplex congenita)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_chronic diarrhea due to glucoamylase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital sodium diarrhea)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_diarrhea-vomiting due to trehalase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital enterocyte heparan sulfate deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Leber hereditary optic neuropathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_metaphyseal anadysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital intestinal transport defect)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_intestinal disease due to vitamin absorption anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital enteropathy involving intestinal mucosa development)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_myopathic intestinal pseudoobstruction)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_atresia of urethra)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Ramos-Arroyo syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mosaic variegated aneuploidy syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_blue rubber bleb nevus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary neurocutaneous angioma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tufted angioma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_microlissencephaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated lissencephaly type 1 without known genetic defects)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_short stature-heart defect-craniofacial anomalies syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_non-syndromic esophageal malformation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_non-syndromic gastroduodenal malformation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syndromic gastroduodenal malformation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_non-syndromic intestinal malformation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syndromic intestinal malformation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_non-syndromic visceral malformation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syndromic visceral malformation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_non-syndromic developmental defect of the eye)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_non-syndromic respiratory or mediastinal malformation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Bannayan-Riley-Ruvalcaba syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_arthrogryposis syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_non-syndromic limb malformation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_renal-genital-middle ear anomalies)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pentasomy X)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Bardet-Biedl syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_anophthalmia plus syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_microphthalmia with limb anomalies)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Barth syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_circumscribed cutaneous aplasia of the vertex)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_recessive aplasia cutis congenita of limbs)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Bartter syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ocular motor apraxia, Cogan type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_aprosencephaly cerebellar dysgenesis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked mandibulofacial dysostosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_AREDYLD syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_auriculoosteodysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_digitotalar dysmorphism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Sheldon-hall syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_arthrogryposis-like syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital contractural arachnodactyly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_arthrogryposis due to muscular dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_progressive pseudorheumatoid arthropathy of childhood)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Beckwith-Wiedemann syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital unilateral hypoplasia of depressor anguli oris)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive cerebellar ataxia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked progressive cerebellar ataxia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syndromic anorectal malformation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_early-onset cerebellar ataxia with retained tendon reflexes)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_benign paroxysmal tonic upgaze of childhood with ataxia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_beta-mannosidosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_infantile onset spinocerebellar ataxia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive limb-girdle muscular dystrophy type 2E)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_atelosteogenesis type I)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Atkin-Flaitz syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (Congenital atransferrinemia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_colonic atresia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_atresia of small intestine)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_larynx atresia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_duodenal atresia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant optic atrophy plus syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant congenital benign spinal muscular atrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Baller-Gerold syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Bamforth-Lazarus syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Bangstad syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Banki syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Barber-Say syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Bartsocas-Papas syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Beemer-Ertbruggen syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Behr syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_metaphyseal acroscyphodysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Bencze syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Bloom syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_blepharonasofacial malformation syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Ascher syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Blepharophimosis - epicanthus inversus - ptosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sino-auricular heart block)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Bonnemann-Meinecke-Reich syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Böök syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Boomerang dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tricho-retino-dento-digital syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Borjeson-Forssman-Lehmann syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Bowen-Conradi syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_fine-Lubinsky syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_brachyolmia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Lambert syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Brugada syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant popliteal pterygium syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Feingold syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Buschke-Ollendorff syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Distal limb deficiencies - micrognathia syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_C syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_medullary sponge kidney)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Caffey disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_campomelia, Cumming type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_camptobrachydactyly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_butyrylcholinesterase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_camptodactyly syndrome, Guadalajara type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_camptodactyly syndrome, Guadalajara type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Camurati-Engelmann disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial pancreatic carcinoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyperkeratosis-hyperpigmentation syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Ketoacidosis due to beta-ketothiolase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cardiofaciocutaneous syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_heart-hand syndrome type 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_maternally-inherited cardiomyopathy and hearing loss)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_heart-hand syndrome type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Atrioventricular defect - blepharophimosis -radial defects)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Carney complex)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_carnosinemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive palmoplantar keratoderma and congenital alopecia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital disorder of glycosylation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Legius syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_glycogen storage disease due to muscle and heart glycogen synthase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_histiocytoid cardiomyopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Czech dysplasia, metatarsal type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Frank-Ter Haar syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Madras motor neuron disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_laminopathy type Decaudain-Vigouroux)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_auriculocondylar syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (Male infertility due to large-headed multiflagellar polyploid spermatozoa)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_isolated optic nerve hypoplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syndromic optic nerve hypoplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypotonia with lactic acidemia and hyperammonemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_CHARGE syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Catel-Manzke syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_CHILD syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_developmental anomaly of metabolic origin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_orofacial clefting syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated craniosynostosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syndromic craniosynostosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked cerebral adrenoleukodystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_adrenomyeloneuropathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_encephalopathy due to prosaposin deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Carney triad)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_leukoencephalopathy with bilateral anterior temporal lobe cysts)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_progressive cavitating leukoencephalopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive bestrophinopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_SERKAL syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_microphthalmia with brain and digit anomalies)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_17q11.2 microduplication syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive ataxia due to ubiquinone deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hemochromatosis type 4)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_African iron overload)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neuropathy with hearing impairment)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Charcot-Marie-Tooth disease type 4J)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal hereditary motor neuropathy type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal spinal muscular atrophy type 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Distal hereditary motor neuropathy, Jerash type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked distal spinal muscular atrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary sensory and autonomic neuropathy type 1B)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary sensory and autonomic neuropathy with deafness and global delay)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary sensory and autonomic neuropathy with spastic paraplegia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal hereditary motor neuropathy type 7)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Richards-Rundle syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_abetalipoproteinemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_campomelic dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary motor and sensory neuropathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant hereditary demyelinating motor and sensory neuropathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant hereditary axonal motor and sensory neuropathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive hereditary demyelinating motor and sensory neuropathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant distal hereditary motor neuropathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive distal hereditary motor neuropathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary sensory and autonomic neuropathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant hereditary sensory and autonomic neuropathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive hereditary sensory and autonomic neuropathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant slowed nerve conduction velocity)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Charlie M syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Joubert syndrome and related disorders)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyperlipidemia due to hepatic triglyceride lipase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_brachydactyly type B2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_stapes ankylosis with broad thumbs and toes)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive limb-girdle muscular dystrophy type 2J)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_linear atrophoderma of Moulin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Lelis syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_short stature due to primary acid-labile subunit deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant macrothrombocytopenia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_palmoplantar keratoderma, Nagashima type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Saldino-Mainzer syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_RHYNS syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primary central nervous system vasculitis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_orofaciodigital syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Canavan disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_uncombable hair syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_nasal encephalocele)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital tracheal stenosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oculo-auriculo-vertebral spectrum)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hemifacial microsomia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hemifacial hypertrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated congenital hypoglossia/aglossia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_glossopalatine ankylosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tarsal-carpal coalition syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oblique facial cleft)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Tessier number 4 facial cleft)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Tessier number 5 facial cleft)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Tessier number 6 facial cleft)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lateral facial cleft)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_commissural facial cleft)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_orofaciodigital syndrome type 12)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_orofaciodigital syndrome type 13)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Biemond syndrome type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lethal chondrodysplasia, Moerman type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lethal chondrodysplasia, Seller type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lethal recessive chondrodysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Greenberg dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_otospondylomegaepiphyseal dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_paroxysmal dyskinesia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ring chromosome 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ring chromosome 10)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ring chromosome 12)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Lynch syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ring chromosome 14)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ring chromosome 17)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ring chromosome 18)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ring chromosome 19)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ring chromosome 20)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ring chromosome 21)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ring chromosome 22)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ring chromosome 4)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ring chromosome 6)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ring chromosome 7)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Ring chromosome 8)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_CINCA syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cleidocranial dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cleidorhizomelic syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_CODAS syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Coffin-Siris syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_COFS syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Carbamoyl-phosphate synthase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_renal coloboma syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Interauricular communication)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_multiple carboxylase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ventricular septal defect)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Cooks syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Cooper-Jabs syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Vici syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked complicated corpus callosum dysgenesis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_achondroplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_short rib-polydactyly syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive Robinow syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_coxoauricular syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_coxopodopatellar syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Crane-Heise syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_craniodiaphyseal dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cranioectodermal dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_craniofacial dyssynostosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_craniometaphyseal dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_craniomicromelic syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cranio-osteoarthropathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_craniosynostosis, Philadelphia type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_craniotelencephalic dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_craniofacial-deafness-hand syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_craniosynostosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Craniosynostosis - dysmorphism - brachydactyly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial isolated dilated cardiomyopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Jackson-Weiss syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial benign copper deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Currarino triad)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Curry-Jones syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_coloboma of superior eyelid)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_coloboma of inferior eyelid)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_otomandibular dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mandibulofacial dysostosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_carnitine palmitoyl transferase 1A deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_keratoconus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Fatal infantile cytochrome C oxidase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated dystonia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_macroglossia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypoglossia/aglossia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oromandibular-limb anomalies syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_paralytic facial malformation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_larynx anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tracheal anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Dahlberg-Borer-Newcomer syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_genetic parenchymatous liver disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_genetic biliary tract disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (Rare genetic respiratory disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Rare genetic urogenital disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Genetic urogenital tract malformation)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_genetic hypertension)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spondyloepimetaphyseal dysplasia, matrilin-3 type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dyssegmental dysplasia, Rolland-Desbuquois type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_carnitine palmitoyltransferase II deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_symbrachydactyly of hands and feet)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Knobloch syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_common variable immunodeficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary hypophosphatemic rickets with hypercalciuria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_infantile bilateral striatal necrosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital or early infantile CACH syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_late infantile CACH syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_juvenile or adult CACH syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_situs ambiguus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Hypospadias - hypertelorism - coloboma and deafness)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary mixed polyposis syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyperplastic polyposis syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mesoaxial synostotic syndactyly with phalangeal reduction)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital pseudoarthrosis of the limbs)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cold-induced sweating syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neuroferritinopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pantothenate kinase-associated neurodegeneration)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Huntington disease-like 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Huntington disease-like 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_combined immunodeficiency with skin granulomas)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ANE syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Ehlers-Danlos syndrome, spondylocheirodysplastic type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital muscular dystrophy due to LMNA mutation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal monosomy 10p)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_non-distal monosomy 10q)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_genetic dementia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Huntington disease-like syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (Rare genetic hematologic disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_suprabasal epidermolysis bullosa simplex)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_epidermolysis bullosa simplex due to plakophilin deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_acral dystrophic epidermolysis bullosa)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dystrophic epidermolysis bullosa, nails only)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lethal acantholytic epidermolysis bullosa)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Monosomy 13q14)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_carnitine-acylcarnitine translocase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal monosomy 13q)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Distal monosomy 15q)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal monosomy 17q)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Monosomy 18q)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_2q24 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Cataract-glaucoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Distal monosomy 3p)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_3q13 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Distal monosomy 5q)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary hyperferritinemia with congenital cataracts)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Hb Bart's hydrops fetalis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal monosomy 7q36)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Maffucci syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spondyloepiphyseal dysplasia, Cantu type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spondyloepiphyseal dysplasia, Reardon type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spondyloepiphyseal dysplasia tarda, Kohn type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spondyloepiphyseal dysplasia, MacDermot type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_2p21 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cryptogenic late-onset epileptic spasms)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_benign familial mesial temporal lobe epilepsy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pustulosis palmaris et plantaris)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Acrodermatitis continua suppurativa of Hallopeau)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked intellectual disability, Kroes type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked dominant chondrodysplasia, Chassaing-Lacombe type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked intellectual disability, Cilliers type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked intellectual disability, van Esch type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal monosomy 9p)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Xp22.3 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial chromosome Y deletion)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oculocerebrocutaneous syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neutral lipid storage disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Dent disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dentin dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_genetic gastro-esophageal disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dermatoosteolysis, Kirghizian type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syndromic urogenital tract malformation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial mesial temporal lobe epilepsy with febrile seizures)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_diazoxide-sensitive diffuse hyperinsulinism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_diazoxide-resistant diffuse hyperinsulinism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_exercise-induced hyperinsulinism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_selective pituitary resistance to thyroid hormone)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Charcot-Marie-Tooth disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dermo-odonto dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_multiple epiphyseal dysplasia due to collagen 9 anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_multiple epiphyseal dysplasia, Beighton type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_multiple epiphyseal dysplasia, Lowry type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_multiple epiphyseal dysplasia, Al-Gazali type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_multiple epiphyseal dysplasia, with severe proximal femoral dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_multiple epiphyseal dysplasia, with miniepiphyses)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_metaphyseal chondrodysplasia, Kaitila type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pontocerebellar hypoplasia type 4)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pontocerebellar hypoplasia type 5)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pontocerebellar hypoplasia type 6)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_von Willebrand disease type 2A)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_von Willebrand disease type 2B)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_von Willebrand disease type 2M)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_von Willebrand disease type 2N)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Von Willebrand disease type 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked corneal dermoid)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_FASTKD2-related infantile mitochondrial encephalomyopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Intellectual disability, Birk-Barel type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated osteopoikilosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dentinogenesis imperfecta type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dentinogenesis imperfecta type 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Goldblatt syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial sick sinus syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_porokeratotic eccrine ostial and dermal duct nevus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_benign non-familial infantile seizures)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_benign partial epilepsy of infancy with complex partial seizures)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_benign partial epilepsy with secondarily generalized seizures in infancy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_benign infantile focal epilepsy with midline spikes and wave during sleep)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_benign partial infantile seizures)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_epilepsy syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Wolcott-Rallison syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (Chédiak-Higashi syndrome)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_chronic diarrhea with villous atrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_diastematomyelia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dihydropyrimidine dehydrogenase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial idiopathic dilatation of the right atrium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary dentin defect)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_loose anagen syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spondyloepimetaphyseal dysplasia, Bieganski type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Spondyloepimetaphyseal dysplasia, Geneviève type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_late infantile neuronal ceroid lipofuscinosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spondylometaphyseal dysplasia, Golden type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_axial spondylometaphyseal dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spondylometaphyseal dysplasia, A4 type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_H syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary cryohydrocytosis with reduced stomatin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary North American Indian childhood cirrhosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital enteropathy due to enteropeptidase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_seborrhea-like dermatitis with psoriasiform elements)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dysplasia of head of femur, Meyer type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial scaphocephaly syndrome, McGillivray type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal thrombocytopenia with normal platelets)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_generalized basaloid follicular hamartoma syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_childhood disintegrative disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_heart-hand syndrome, Slovenian type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_CLAPO syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ringed hair disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Cernunnos-XLF deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_combined immunodeficiency due to CD3gamma deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_susceptibility to respiratory infections associated with CD8alpha chain mutation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_combined immunodeficiency due to CRAC channel dysfunction)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_immunodeficiency due to CD25 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_immunoglobulin heavy chain deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_transient hypogammaglobulinemia of infancy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Immunodeficiency due to an early component of complement deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_T-B+ severe combined immunodeficiency due to CD45 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial scaphocephaly syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive centronuclear myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant centronuclear myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mosaic trisomy 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_immuno-osseous dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primary CD59 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_recurrent Neisseria infections due to factor D deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_non-distal trisomy 10q)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_severe hemophilia B)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_moderately severe hemophilia B)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mild hemophilia B)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mosaic trisomy 12)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_severe hemophilia A)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_moderately severe hemophilia A)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mild hemophilia A)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital vitamin K-dependent coagulation factors deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_trisomy 12p)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_non-distal trisomy 13q)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mosaic trisomy 14)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal trisomy 14q)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mosaic trisomy 15)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal trisomy 15q)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mosaic trisomy 16)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mosaic trisomy 17)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_high anorectal malformation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_intermediate anorectal malformation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_low anorectal malformation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_rectal duplication)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_17p11.2 microduplication syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_severe congenital nemaline myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_intermediate nemaline myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_typical nemaline myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_childhood-onset nemaline myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_adult-onset nemaline myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_trisomy 18p)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal trisomy 18q)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lissencephaly due to TUBA1A mutation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_metabolic myopathy due to lactate transporter defect)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_parkinsonian-pyramidal syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal trisomy 19q)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_short stature-delayed bone age due to thyroid hormone metabolism deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_male infertility due to globozoospermia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Amish infantile epilepsy syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_6q16 deletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_MEDNIK syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spondyloepimetaphyseal dysplasia, aggrecan type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cap myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cylindrical spirals myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_myopathy with hexagonally cross-linked tubular arrays)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_trisomy 10p)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_progressive familial intrahepatic cholestasis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mosaic trisomy 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mosaic trisomy 20)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital myopathy with cores)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_trisomy 4p)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_trisomy 5p)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal trisomy 6p)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital hypogonadotropic hypogonadism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mosaic trisomy 7)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cartilage-hair hypoplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_trisomy 8q)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_caudal duplication)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_thoraco-abdominal enteric duplication)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_non-rhizomelic chondrodysplasia punctata)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Trisomy Xq28)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial caudal dysgenesis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_rhizomelic chondrodysplasia punctata)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syndromic hypothyroidism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_45,X/46,XY mixed gonadal dysgenesis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dyskeratosis congenita)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_temtamy syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Prader-Willi syndrome due to translocation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Prader-Willi syndrome due to imprinting mutation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_symptomatic form of hemophilia A in female carriers)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_symptomatic form of hemophilia B in female carriers)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_chordoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_peripheral precocious puberty)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_moderate multiminicore disease with hand involvement)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_antenatal multiminicore disease with arthrogryposis multiplex congenita)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dysosteosclerosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_8q22.1 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_reticulate acropigmentation of Kitamura)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Heinz body anemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_UV-sensitive syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_aromatase excess syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Smith-McCort dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syndromic microphthalmia type 5)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_osteosclerosis-developmental delay-craniosynostosis syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital vertical talus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal myopathy with anterior tibial onset)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked myopathy with postural muscle atrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant non-syndromic intellectual disability)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Brain calcification, Rajab type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Perry syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_acrofacial dysostosis, Catania type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_acrofacial dysostosis, Palagonia type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_birdshot chorioretinopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypomandibular faciocranial dysostosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primary immunodeficiency due to a defect in adaptive immunity)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_frontofacionasal dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oculomaxillofacial dysostosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_obesity due to leptin receptor gene deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_peripheral dysostosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant spondylocostal dysostosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dysostosis, Stanescu type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal renal tubular acidosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_choroideremia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_true unicornuate uterus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pseudounicornuate uterus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_kyphomelic dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ghosal hematodiaphyseal dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_thoracomelic dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_focal facial dermal dysplasia type III)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hidrotic ectodermal dysplasia, Christianson-Fourie type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hidrotic ectodermal dysplasia, Halal type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked hypohidrotic ectodermal dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant hypohidrotic ectodermal dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_odontomicronychial dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_growth hormone insensitivity syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_adrenogenital syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_major hypertriglyceridemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyperalphalipoproteinemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Ectodermal dysplasia, Berlin type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ectodermal dysplasia, trichoodontoonychial type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Medullar aplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ARX-related epileptic encephalopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pneumoconiosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dysplasia epiphysealis hemimelica)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Lowry-Wood syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_frontometaphyseal dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Schimke immuno-osseous dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lethal osteosclerotic bone dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_axial mesodermal dysplasia spectrum)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_inherited ichthyosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_genetic epidermal appendage anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_genetic hair anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_genetic nail anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_genetic sebaceous gland anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Genetic dermis disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (Genetic skin tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Genetic neurodegenerative disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_genetic central nervous system and retinal vascular disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_genetic multiple congenital anomalies/dysmorphic syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (Genetic respiratory or mediastinal malformation)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_genetic head and neck malformation)\n\nSubClassOf( owl:Thing)\n\n# Class: (Genetic renal tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_mesomelic dysplasia, Kantaputra type)\n\nSubClassOf( owl:Thing)\n\n# Class: (Genetic eye tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_severe combined immunodeficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyper-IgM syndrome with susceptibility to opportunistic infections)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyper-IgM syndrome without susceptibility to opportunistic infections)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_agammaglobulinemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_recurrent infections associated with rare immunoglobulin isotypes deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_functional neutrophil defect)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ulna metaphyseal dysplasia syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neutrophil immunodeficiency syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pyogenic bacterial infections due to MyD88 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Rare genetic gynecological and obstetrical diseases)\n\nSubClassOf( owl:Thing)\n\n# Class: (Genetic gynecological tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_hereditary mucoepithelial dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cherubism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bone dysplasia, lethal Holmgren type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bone dysplasia, Azouz type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bilateral renal agenesis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_multicystic dysplastic kidney)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked retinal dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Spondyloenchondrodysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_thanatophoric dysplasia type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Congenital valvular dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_focal, segmental or multifocal dystonia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bullous dystrophy, macular type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_citrullinemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Jalili syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oculogastrointestinal muscular dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive limb-girdle muscular dystrophy type 2H)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_melorheostosis with osteopoikilosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated ectopia lentis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Hidrotic ectodermal dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primary pigmented nodular adrenocortical disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial isolated hypoparathyroidism due to impaired PTH secretion)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_EEC syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_EEM syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_2-hydroxyglutaric aciduria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Coats disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Ehlers-Danlos syndrome, dermatosparaxis type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Cockayne syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Coffin-Lowry syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Emery-Nelson syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital lobar emphysema)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Cohen syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_frontal encephalocele)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Early infantile epileptic encephalopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_early myoclonic encephalopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Ocular coloboma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_juvenile absence epilepsy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_myoclonic-astastic epilepsy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cat-eye syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pacman dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital lethal erythroderma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinocerebellar ataxia type 34)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_erythromelalgia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lethal faciocardiomelic dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_faciocardiorenal syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lipodystrophy due to peptidic growth factors deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_occipital horn syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bilateral striopallidodentate calcinosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Gollop-Wolfgang complex)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_femoral agenesis/hypoplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_femoral-facial syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Cornelia de Lange syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_corticosteroid-binding globulin deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial multiple lipomatosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial angiolipomatosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_harlequin syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary hypercarotenemia and vitamin A deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Congenital isolated ACTH deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Pai syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tetragametic chimerism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial clubfoot with or without associated lower limb anomalies)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated autosomal dominant hypomagnesemia, Glaudemans type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital myopathy, Paradas type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_endocrine-cerebro-osteodysplasia syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Muscular dystrophy, Selcen type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_EAST syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (Thiamine-responsive encephalopathy)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectIntersectionOf( ObjectSomeValuesFrom( )) ObjectIntersectionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (obsolete_atypical autism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated congenital microcephaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated encephalocele)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_3-hydroxy-3-methylglutaric aciduria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_paroxysmal dystonia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Immunodeficiency with factor I anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_immunodeficiency with factor H anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Cowden syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cleft palate-lateral synechia syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_femur-fibula-ulna complex)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Crandall syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital fiber-type disproportion myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_fibrochondrogenesis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Endomyocardial fibroelastosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary gingival fibromatosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_gingival fibromatosis-hypertrichosis syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_juvenile hyaline fibromatosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_anomaly of puberty or/and menstrual cycle of genetic origin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syndromic microphthalmia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_scalp-ear-nipple syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_floating-Harbor syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_FLOTCH syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Flynn-Aird syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Crigler-Najjar syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Cole-Carpenter syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Fraser syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_essential fructosuria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Fryns syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_progressive non-infectious anterior vertebral fusion)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypoxanthine-guanine phosphoribosyltransferase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_infantile Krabbe disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_late-infantile/juvenile Krabbe disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_adult Krabbe disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Galloway-Mowat syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive limb-girdle muscular dystrophy type 2L)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive limb-girdle muscular dystrophy type 2M)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive limb-girdle muscular dystrophy type 2N)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive limb-girdle muscular dystrophy type 2O)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive lower motor neuron disease with childhood onset)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_adult polyglucosan body disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated asymptomatic elevation of creatine phosphokinase)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_progressive muscular dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_myotonic dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant distal myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive distal myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_non-dystrophic myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_inclusion myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_gapo syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bulbospinal muscular atrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_generalized bulbospinal muscular atrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Distal spinal muscular atrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_gastrocutaneous syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_muscular lipidosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_muscular glycogenosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_myotonic syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital myotonia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_qualitative or quantitative protein defects in neuromuscular diseases)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_qualitative or quantitative defects of alpha-sarcoglycan)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_qualitative or quantitative defects of beta-sarcoglycan)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_qualitative or quantitative defects of gamma-sarcoglycan)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_qualitative or quantitative defects of delta-sarcoglycan)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_qualitative or quantitative defects of dysferlin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_qualitative or quantitative defects of dystrophin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_qualitative or quantitative defects of merosin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_qualitative or quantitative defects of integrin alpha-7)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_qualitative or quantitative defects of perlecan)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_qualitative or quantitative defects of calpain)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_qualitative or quantitative defects of TRIM32)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_qualitative or quantitative defects of myotubularin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_qualitative or quantitative defects of FKRP)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_qualitative or quantitative defects of fukutin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_genito-palato-cardiac syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_German syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_geroderma osteodysplastica)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bilateral parasagittal parieto-occipital polymicrogyria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bilateral frontal polymicrogyria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bilateral generalized polymicrogyria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinocerebellar ataxia type 29)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_genetic hypoparathyroidism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_genetic hyperparathyroidism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cryopyrin-associated periodic syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_glycogen storage disease due to GLUT2 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cutis laxa)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_GMS syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_qualitative or quantitative defects of protein glycosyltransferase-like)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_qualitative or quantitative defects of protein O-mannosyltransferase 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_qualitative or quantitative defects of protein O-mannosyltransferase 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_qualitative or quantitative defects of myofibrillar proteins)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_qualitative or quantitative defects of desmin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_qualitative or quantitative defects of alphaB-cristallin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_qualitative or quantitative defects of filamin C)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_qualitative or quantitative defects of protein ZASP)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_qualitative or quantitative defects of titin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_qualitative or quantitative defects of telethonin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_qualitative or quantitative defects of alpha-actin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_qualitative or quantitative defects of nebulin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_qualitative or quantitative defects of beta-myosin heavy chain (MYH7))\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_qualitative or quantitative defects of emerin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_qualitative or quantitative defects of selenoprotein N1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_qualitative or quantitative defects of plectin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_qualitative or quantitative defects of protein SERCA1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_focal dermal hypoplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_qualitative or quantitative defects of myotilin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_adult-onset proximal spinal muscular atrophy, autosomal dominant)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_severe neonatal-onset encephalopathy with microcephaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Gorlin-Chaudhry-Moss syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Grant syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant rhegmatogenous retinal detachment)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial juvenile hyperuricemic nephropathy type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_brain-lung-thyroid syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_childhood apraxia of speech)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cone dystrophy with supernormal rod response)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_IRVAN syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_episodic ataxia type 6)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_episodic ataxia type 7)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_benign familial nocturnal alternating hemiplegia of childhood)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_alternating hemiplegia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_IRIDA syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Grubben-de Cock-Borghgraef syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sterile multifocal osteomyelitis with periostitis and pustulosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_urocanic aciduria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lethal polymalformative syndrome, Boissel type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_GTP cyclohydrolase I deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_macrocephaly-autism syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dystonia 16)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Hall-Riggs syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Hallermann-Streiff syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial cylindromatosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinocerebellar ataxia type 30)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant proximal spinal muscular atrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary episodic ataxia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_episodic ataxia type 5)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_genetic vascular anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hip dysplasia, Beukes type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Harrod syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Hartnup disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Hartsfield-Bixler-Demyer syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hawkinsinuria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cystathioninuria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cystinosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hemimelia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_alternating hemiplegia of childhood)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hemoglobin C disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hemoglobin E disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_atypical hemolytic-uremic syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Hennekam-Beemer syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial ovarian cancer)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary site-specific ovarian cancer syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Hennekam syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_46,XX ovotesticular disorder of sex development)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Hernández-Aguirre Negrete syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cystinuria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Donnai-Barrow syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_craniosynostosis, Herrmann-Opitz type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lissencephaly type 1 due to doublecortin gene mutation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_nodular neuronal heterotopia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital stationary night blindness)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Mowat-Wilson syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hirsutism-skeletal dysplasia-intellectual disability syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_histidinemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neuronal ceroid lipofuscinosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_holoprosencephaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Holzgreve-Wagner-Rehder syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated congenitally uncorrected transposition of the great arteries)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenitally uncorrected transposition of the great arteries with cardiac malformation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_osteogenesis imperfecta type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_homocarnosinosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_osteogenesis imperfecta type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_osteogenesis imperfecta type 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_osteogenesis imperfecta type 4)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_osteogenesis imperfecta type 5)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_classic pantothenate kinase-associated neurodegeneration)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_atypical pantothenate kinase-associated neurodegeneration)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_methylcobalamin deficiency type cblE)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Niemann-Pick disease type C, severe perinatal form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Niemann-Pick disease type C, severe early infantile neurologic onset)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Niemann-Pick disease type C, late infantile neurologic onset)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Niemann-Pick disease type C, juvenile neurologic onset)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Niemann-Pick disease type C, adult neurologic onset)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Isolated Dandy-Walker malformation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_methylcobalamin deficiency type cblG)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinocerebellar ataxia type 31)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Zechi-Ceide syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_atypical hemolytic-uremic syndrome with thrombomodulin anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Autosomal recessive childhood-onset cortical cataract)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_early-onset non-syndromic cataract)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated congenital digital clubbing)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mucopolysaccharidosis type 2, severe form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mucopolysaccharidosis type 2, attenuated form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_BNAR syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neurodegenerative syndrome due to cerebral folate transport deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_combined immunodeficiency due to DOCK8 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_progressive demyelinating neuropathy with bilateral striatal necrosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital insensitivity to pain with hyperhidrosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary hypotrichosis with recurrent skin vesicles)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_chronic respiratory distress with surfactant metabolism deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_infantile systemic hyalinosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial dilated cardiomyopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial restrictive cardiomyopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial isolated arrhythmogenic right ventricular dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hydranencephaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Darier disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital hydrocephalus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive limb-girdle muscular dystrophy type 2F)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital hydronephrosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dicarboxylic aminoaciduria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_palmoplantar keratoderma-esophageal carcinoma syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_epidermolytic palmoplantar keratoderma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_4-hydroxybutyric aciduria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Denys-Drash syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_focal palmoplantar and gingival keratoderma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_palmoplantar keratoderma-spastic paralysis syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_palmoplantar keratoderma-deafness syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_xeroderma pigmentosum-Cockayne syndrome complex)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyperlysinemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_semilobar holoprosencephaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dysplastic cortical hyperostosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Quebec platelet disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bleeding diathesis due to thromboxane synthesis deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_attenuated familial adenomatous polyposis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Laron syndrome with immunodeficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (Rare hereditary hemochromatosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_Joubert syndrome with ocular defect)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Joubert syndrome with renal defect)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Ankylosing vertebral hyperostosis with tylosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial primary hyperparathyroidism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Rothmund-Thomson syndrome type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Rothmund-Thomson syndrome type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary sclerosing poikiloderma, Weary type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary sclerosing poikiloderma with tendon and pulmonary involvement)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_poikiloderma with neutropenia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_acrocephalopolydactyly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Hereditary cerebral cavernous malformation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pseudoaminopterin syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Fowler syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Pitt-Hopkins-like syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Malignant hyperthermia - arthrogryposis - torticollis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypertrichosis lanuginosa congenita)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary poikiloderma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_nephrogenic diabetes insipidus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mitochondrial oxidative phosphorylation disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial isolated hypoparathyroidism due to agenesis of parathyroid gland)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neonatal diabetes mellitus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Megacystis-microcolon-intestinal hypoperistalsis syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_maternally-inherited diabetes and deafness)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hemochromatosis type 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sporadic infantile bilateral striatal necrosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial infantile bilateral striatal necrosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pontocerebellar hypoplasia type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial primary pulmonary hypoplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dihydropteridine reductase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_permanent congenital hypothyroidism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primary congenital hypothyroidism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_central congenital hypothyroidism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypothyroidism due to deficient transcription factors involved in pituitary development or function)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_peripheral hypothyroidism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_genetic transient congenital hypothyroidism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypotrichosis-intellectual disability, Lopes type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ichthyosis-cheek-eyebrow syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Ichthyosis follicularis - alopecia - photophobia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial flecked retinopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_fundus albipunctatus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive optic atrophy, OPA7 type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_idiopathic CD4 lymphocytopenia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_severe combined immunodeficiency due to CORO1A deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant Charcot-Marie-Tooth disease type 2M)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_heart-hand syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial anetoderma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_carnitine palmitoyl transferase II deficiency, myopathic form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_carnitine palmitoyl transferase II deficiency, severe infantile form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_carnitine palmitoyl transferase II deficiency, neonatal form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_severe early-onset axonal neuropathy due to NEFL deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_5q14.3 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spondylo-megaepiphyseal-metaphyseal dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_frontonasal dysplasia with alopecia and genital anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_8q12 microduplication syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_2q23.1 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_polyvalvular heart disease syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_5q35 microduplication syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_monocytopenia with susceptibility to infections)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syndromic multisystem autoimmune disease due to ITCH deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_solitary median maxillary central incisor syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_fused mandibular incisors)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neuronal intranuclear inclusion disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Familial aortic dissection)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_microvillus inclusion disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital bowing of long bones)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Ehlers-Danlos syndrome type 11)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_insulin-resistance syndrome type A)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated agammaglobulinemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syndromic agammaglobulinemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_insulin-resistance syndrome type B)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_argininosuccinic aciduria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dopamine beta-hydroxylase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_multiple intestinal atresia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital short bowel syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isotretinoin-like syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_IVIC syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Jacobsen syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Ehlers-Danlos syndrome due to tenascin-X deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Ehlers-Danlos syndrome, vascular-like type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Ehlers-Danlos syndrome, cardiac valvular type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Ehlers-Danlos/osteogenesis imperfecta syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pachyonychia congenita)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital trigeminal anesthesia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial generalized lentiginosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive spondylocostal dysostosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial rhabdoid tumor)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Beckwith-Wiedemann syndrome due to imprinting defect of 11p15)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Beckwith-Wiedemann syndrome due to CDKN1C mutation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Beckwith-Wiedemann syndrome due to 11p15 microdeletion)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_silver-Russell syndrome due to 7p11.2p13 microduplication)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_silver-Russell syndrome due to 11p15 microduplication)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_silver-Russell syndrome due to maternal uniparental disomy of chromosome 11)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Usher syndrome type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Usher syndrome type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Usher syndrome type 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_transient familial neonatal hyperbilirubinemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_beta-thalassemia major)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_beta-thalassemia intermedia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dominant beta-thalassemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_delta-beta-thalassemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Johanson-Blizzard syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Hermansky-Pudlak syndrome with pulmonary fibrosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Hermansky-Pudlak syndrome without pulmonary fibrosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_generalized dominant dystrophic epidermolysis bullosa)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Johnson neuroectodermal syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated growth hormone deficiency type IA)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated growth hormone deficiency type IB)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated growth hormone deficiency type II)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated growth hormone deficiency type III)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_non-acquired combined pituitary hormone deficiency with spine abnormalities)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Joubert syndrome with oculorenal defect)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Juberg-Hayward syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sickle cell anemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Kabuki syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_alpha-thalassemia-related diseases)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_epidermolysis bullosa simplex with anodontia/hypodontia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_kapur-Toriello syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Karsch-Neugebauer syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Duane retraction syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_KBG syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Kenny-Caffey syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant keratitis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated punctate palmoplantar keratoderma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Dubin-Johnson syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_keratosis follicularis spinulosa decalvans)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Haim-Munk syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated cloverleaf skull syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated Klippel-Feil syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_angioosteohypertrophic syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lethal Kniest-like dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial partial lipodystrophy, Dunnigan type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Dubowitz syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Schilbach-Rott syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_arachnoid cyst)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital vascular bone syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Familial hyperaldosteronism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_trisomy 9p)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_glycogen storage disease due to lactate dehydrogenase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_duplication of urethra)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lethal Larsen-like syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital laryngomalacia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital laryngeal web)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Laurence-Moon syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_laurin-Sandrow syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_digestive duplication)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Lennox-Gastaut syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Familial renal amyloidosis due to Apolipoprotein AII variant)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_severe X-linked mitochondrial encephalomyopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_15q11q13 microduplication syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_SLC35A1-CDG)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Hypohidrotic ectodermal dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Familial hypercholanemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive lymphoproliferative disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lymphoproliferative syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital secondary polycythemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (Chuvash erythrocytosis)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_familial clubfoot due to 17q23.1q23.2 microduplication)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_leukoencephalopathy-palmoplantar keratoderma syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Beckwith-Wiedemann syndrome due to NSD1 mutation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primary megaureter, adult-onset form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital primary megaureter, obstructed form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital primary megaureter, refluxing form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital primary megaureter, nonrefluxing and unobstructed form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated congenital hypogonadotropic hypogonadism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated thyrotropin-releasing hormone deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_leukonychia totalis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial congenital mirror movements)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mammary-digital-nail syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant limb-girdle muscular dystrophy type 1H)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_glaucoma secondary to spherophakia/ectopia lentis and megalocornea)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_1q44 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Dyggve-Melchior-Clausen disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pyruvate dehydrogenase E3 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_encephalocraniocutaneous lipomatosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Familial symmetric lipomatosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Nasopalpebral lipoma - coloboma - telecanthus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_fumaric aciduria)\n\nSubClassOf( owl:Thing)\n\n# Class: (Classical progressive supranuclear palsy)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_Nijmegen breakage syndrome-like disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Lowe-Kohn-Cohen syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Lowry-MacLean syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital pulmonary lymphangiectasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Congenital primary lymphedema)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_46,XY complete gonadal dysgenesis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital macroglossia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_central bilateral macrogyria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dimethylglycine dehydrogenase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hand-foot-genital syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Patterson-Stevenson-Fontaine syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primary ciliary dyskinesia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dominant hypophosphatemia with nephrolithiasis or osteoporosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_RFT1-CDG)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_conotruncal heart malformations)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mandibuloacral dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_postaxial acrofacial dysostosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_van den Ende-Gupta syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Marden-Walker syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Shprintzen-Goldberg syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_MASA syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Matthew-Wood syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_McDonough syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_progressive cerebello-cerebral atrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyperphosphatasia-intellectual disability syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_McKusick-Kaufman syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Generalized pustular psoriasis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive secondary polycythemia not associated with VHL gene)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_white forelock with malformations)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant secondary polycythemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_citrullinemia type I)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_acute neonatal citrullinemia type I)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_adult-onset citrullinemia type I)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_citrin deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_citrullinemia type II)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neonatal intrahepatic cholestasis due to citrin deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_juvenile primary lateral sclerosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_perinatal lethal hypophosphatasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Prenatal benign hypophosphatasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Infantile hypophosphatasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Childhood-onset hypophosphatasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Adult hypophosphatasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_odontohypophosphatasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_multiple endocrine neoplasia type 2A)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_multiple endocrine neoplasia type 2B)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked cerebellar ataxia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Atypical Mayer-Rokitansky-Küster-Hauser syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Classic Mayer-Rokitansky-Küster-Hauser syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (FTH1-related iron overload)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_MUTYH-related attenuated familial adenomatous polyposis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_megalencephalic leukoencephalopathy with subcortical cysts)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_APC-related attenuated familial adenomatous polyposis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive ataxia due to PEX10 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_occult macular dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_megalocornea-intellectual disability syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive hypohidrotic ectodermal dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primary hypertrophic osteoarthropathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_juvenile Huntington disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Melhem-Fahl syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated delta-storage pool disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial hypodysfibrinogenemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_melorheostosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Fibrous dysplasia of bone)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Limb transversal defect - cardiac anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_meningioma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mesomelia-synostoses syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_upper limb mesomelic dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syndactyly type 8)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_metachondromatosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_glutaryl-CoA dehydrogenase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_frontonasal dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_acrogeria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_metaphyseal chondrodysplasia, Spahr type)\n\nSubClassOf( owl:Thing)\n\n# Class: (Genetic polycythemia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_multiple benign circumferential skin creases on limbs)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Micrencephaly - corpus callosum agenesis - abnormal genitalia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated aniridia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant optic atrophy and peripheral neuropathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_polymicrogyria with optic nerve hypoplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_AICA-ribosiduria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive Stickler syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_1q41q42 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_multiple epiphyseal dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_paternal uniparental disomy of chromosome 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_maternal uniparental disomy of chromosome 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_2q31.1 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_2q32q33 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_2q33.1 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ring chromosome 5)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_6p22 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_6q25 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_7q31 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_8p11.2 deletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_8p23.1 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive primary microcephaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial hyperaldosteronism type III)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Autosomal dominant spastic ataxia type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_benign concentric annular macular dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_parietal foramina with cleidocranial dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pigmented paravenous retinochoroidal atrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ataxia-telangiectasia-like disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sickle cell disease associated with an other hemoglobin anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Hereditary persistence of fetal hemoglobin - sickle cell disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_CK syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_localized junctional epidermolysis bullosa, non-Herlitz type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_46,XY partial gonadal dysgenesis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal arthrogryposis type 10)\n\nSubClassOf( owl:Thing)\n\n# Class: (Recurrent infections - inflammatory syndrome due to zinc metabolism disorder)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_Autosomal recessive chorioretinopathy-microcephaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pontocerebellar hypoplasia type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Microcephaly - lymphedema - chorioretinopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_microcephaly-microcornea syndrome, Seemanova type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spondylometaphyseal dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_19p13.12 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal 7q11.23 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive limb-girdle muscular dystrophy type 2Q)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_motor developmental delay due to 14q32.2 paternally expressed gene defect)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_multiple congenital anomalies due to 14q32.2 maternally expressed gene defect)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_paternal 14q32.2 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_maternal 14q32.2 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_paternal 14q32.2 hypomethylation syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_maternal 14q32.2 hypermethylation syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pyruvate metabolism disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tricarboxylic acid cycle disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_maternally-inherited mitochondrial myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mitochondrial DNA depletion syndrome, encephalomyopathic form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_multiple mitochondrial DNA deletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ataxia neuropathy spectrum)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mitochondrial membrane transport disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mitochondrial substrate carrier disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mitochondrial protein import disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated oxidative phosphorylation complex disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_maternally-inherited mitochondrial dystonia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pure mitochondrial myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lethal infantile mitochondrial myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mitochondrial myopathy with reversible cytochrome C oxidase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mitochondrial DNA depletion syndrome, hepatocerebral form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mitochondrial DNA depletion syndrome, myopathic form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinocerebellar ataxia with epilepsy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive progressive external ophthalmoplegia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant progressive external ophthalmoplegia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oculoauriculovertebral spectrum with radial defects)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_combined oxidative phosphorylation defect type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_combined oxidative phosphorylation defect type 4)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_combined oxidative phosphorylation defect type 7)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dopa-responsive dystonia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pyruvate dehydrogenase E1-beta deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pyruvate dehydrogenase E3-binding protein deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_maternally-inherited Leigh syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Navajo neurohepatopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Leigh syndrome with leukodystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Leigh syndrome with nephrotic syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Mietens syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Mikati-Najjar-Sahli syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_early-onset generalized limb-onset dystonia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Ackerman syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_MOMO syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tetramelic monodactyly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Mononen-Karnes-Senac syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked immunoneurologic disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Moyamoya disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Moynahan syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mulibrey nanism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_myeloperoxidase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Myhre syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_infantile myofibromatosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tubular aggregate myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_myopathy and diabetes mellitus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_benign occipital epilepsy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked myopathy with excessive autophagy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive sideroblastic anemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial visceral myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_N syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Isolated NADH-CoQ reductase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Emery-Dreifuss muscular dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal 7q11.23 microduplication syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_14q11.2 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_14q12 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_15q14 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_proximal 16p11.2 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_16p11.2p12.2 microduplication syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_16p11.2p12.2 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal 16p11.2 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_14q11.2 microduplication syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_16p13.11 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_16p13.11 microduplication syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_16q24.3 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal 17p13.3 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_17q23.1q23.2 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_trisomy 17p)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_20p12.3 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_nail-patella-like renal disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_paternal 20q13.2q13.3 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_20q13.33 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_trisomy 20p)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_21q22.11q22.12 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal 22q11.2 microduplication syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_trisomy 1q)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_2p15p16.1 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_nail-patella syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Xq27.3q28 duplication syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Kleefstra syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Nakajo-Nishimura syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_atypical Norrie disease due to monosomy Xp11.3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_maternal uniparental disomy of chromosome X)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_paternal uniparental disomy of chromosome X)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ring chromosome Y)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_49,XXXYY syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Mowat-Wilson syndrome due to monosomy 2q22)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Mowat-Wilson syndrome due to a ZEB2 point mutation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial adenomatous polyposis due to 5q22.2 microdeletion)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Alagille syndrome due to 20p12 microdeletion)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Alagille syndrome due to a JAG1 point mutation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Alagille syndrome due to a NOTCH2 point mutation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Okihiro syndrome due to 20q13 microdeletion)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Okihiro syndrome due to a point mutation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Kleefstra syndrome due to a point mutation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bird headed-dwarfism, Montreal type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of chromosome 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of chromosome 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of chromosome 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of chromosome 4)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of chromosome 5)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of chromosome 6)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of chromosome 7)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of chromosome 8)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of chromosome 9)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of chromosome 10)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of chromosome 11)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of the long arm of chromosome 12)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of chromosome 16)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of chromosome 17)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of chromosome 18)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of chromosome 19)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of chromosome 20)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of the short arm of chromosome 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of the short arm of chromosome 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of the short arm of chromosome 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of the short arm of chromosome 5)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_brachydactylous dwarfism, Mseleni type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of the short arm of chromosome 6)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of the short arm of chromosome 7)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of the short arm of chromosome 8)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of the short arm of chromosome 10)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of the short arm of chromosome 11)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of the short arm of chromosome 16)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of the short arm of chromosome 19)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial monosomy of the short arm of chromosome 20)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Duchenne and Becker muscular dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of the long arm of chromosome 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of the long arm of chromosome 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of the long arm of chromosome 4)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of the long arm of chromosome 5)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of the long arm of chromosome 6)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of the long arm of chromosome 7)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of the long arm of chromosome 8)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial monosomy of the long arm of chromosome 9)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial monosomy of the long arm of chromosome 10)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of the long arm of chromosome 11)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of the long arm of chromosome 13)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of the long arm of chromosome 14)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of the long arm of chromosome 15)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of the long arm of chromosome 16)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of the long arm of chromosome 17)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of the long arm of chromosome 19)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of the long arm of chromosome 20)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of the long arm of chromosome 21)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial duplication of chromosome 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial duplication of chromosome 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial duplication of chromosome 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial duplication of chromosome 4)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial trisomy/tetrasomy of chromosome 5)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_geleophysic dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial duplication of chromosome 6)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial duplication of chromosome 7)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial duplication of chromosome 8)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial trisomy/tetrasomy of chromosome 9)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial duplication of chromosome 10)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial duplication of chromosome 11)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial trisomy/tetrasomy of the short arm of chromosome 12)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial duplication of chromosome 16)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial duplication of chromosome 17)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial trisomy/tetrasomy of chromosome 18)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial duplication of chromosome 19)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial trisomy of chromosome 20)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial duplication of the short arm of chromosome 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial duplication of the short arm of chromosome 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial duplication of the short arm of chromosome 4)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial trisomy/tetrasomy of the short arm of chromosome 5)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial duplication of the short arm of chromosome 6)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial duplication of the short arm of chromosome 7)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial duplication of the short arm of chromosome 8)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial duplication of the short arm of chromosome 10)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial duplication of the short arm of chromosome 11)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial duplication of the short arm of chromosome 16)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial duplication of the short arm of chromosome 17)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial trisomy/tetrasomy of the short arm of chromosome 18)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial duplication of the long arm of chromosome 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial duplication of the long arm of chromosome 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial duplication of the long arm of chromosome 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial duplication of the long arm of chromosome 4)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial trisomy of the long arm of chromosome 5)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial duplication of the long arm of chromosome 6)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial duplication of the long arm of chromosome 7)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial duplication of the long arm of chromosome 8)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial trisomy of the long arm of chromosome 9)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial duplication of the long arm of chromosome 10)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial duplication of the long arm of chromosome 14)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial duplication of the long arm of chromosome 15)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial trisomy of the long arm of chromosome 16)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial duplication of the long arm of chromosome 17)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial trisomy of the long arm of chromosome 18)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial duplication of the long arm of chromosome 19)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial trisomy of the long arm of chromosome 20)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_limb-girdle muscular dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial duplication of the long arm of chromosome 22)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Langer mesomelic dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mesomelic dwarfism, Nievergelt type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_MRCS syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ATR-X-related syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mesomelic dwarfism, Reinhardt-Pfeiffer type)\n\nSubClassOf( owl:Thing)\n\n# Class: (Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf(ObjectIntersectionOf( ObjectSomeValuesFrom( )) ObjectIntersectionOf( ObjectSomeValuesFrom( )))))\n\n# Class: (obsolete_Bartter syndrome with hypocalcemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neuroacanthocytosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyperinsulinism due to HNF4A deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyperinsulinism due to INSR deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (CHST3-related skeletal dysplasia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_COG5-CDG)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_DPM3-CDG)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_metatropic dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_COG4-CDG)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_COG1-CDG)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_progressive myoclonic epilepsy type 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_acral peeling skin syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_generalized peeling skin syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_peeling skin syndrome type A)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Peeling skin syndrome type B)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_generalized peeling skin syndrome type C)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_microcephalic osteodysplastic primordial dwarfism types I and III)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_microcephalic osteodysplastic primordial dwarfism type II)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X chromosome number anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of chromosome X)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial monosomy of the short arm of chromosome X)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Y chromosome number anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X and Y chromosomal anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of the long arm of chromosome X)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial duplication of chromosome X)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial duplication of the short arm of chromosome X)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial duplication of the long arm of chromosome X)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Fibular aplasia - complex brachydactyly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_microcephalic primordial dwarfism, Toriello type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial duplication of the short arm of chromosome 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_trisomy 8p)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_osteoglophonic dwarfism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_glycogen storage disease due to liver phosphorylase kinase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_parastremmatic dwarfism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_thanatophoric dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Lenz-Majewski hyperostotic dwarfism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Autosomal dominant limb-girdle muscular dystrophy type 1A)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Keipert syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Nathalie syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive limb-girdle muscular dystrophy type 2A)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Pierson syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Neu-Laxova syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neurofaciodigitorenal syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Cyprus facial-neuromusculoskeletal syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neuroectodermal-endocrine syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_infantile axonal neuropathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_multiple acyl-CoA dehydrogenase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_short chain acyl-CoA dehydrogenase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_very long chain acyl-CoA dehydrogenase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive limb-girdle muscular dystrophy type 2B)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spheroid body myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_classic maple syrup urine disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_intermediate maple syrup urine disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_intermittent maple syrup urine disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_thiamine-responsive maple syrup urine disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary thrombocytopenia with normal platelets)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive intermediate Charcot-Marie-Tooth disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neural tube closure defect)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_open iniencephaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_closed iniencephaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spina bifida aperta)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_total spina bifida aperta)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_thoracolumbosacral spina bifida aperta)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lumbosacral spina bifida aperta)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cervical spina bifida aperta)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cervicothoracic spina bifida aperta)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_upper thoracic spina bifida aperta)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spina bifida cystica)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_total spina bifida cystica)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_thoracolumbosacral spina bifida cystica)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lumbosacral spina bifida cystica)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cervical spina bifida cystica)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cervicothoracic spina bifida cystica)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_upper thoracic spina bifida cystica)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_posterior meningocele)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_myelocystocele)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cephalocele)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_occipital encephalocele)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_parietal encephalocele)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_basal encephalocele)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lipomyelomeningocele)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_leptomyelolipoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neurenteric cyst)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated amyelia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_midline cerebral malformation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bilateral polymicrogyria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_unilateral polymicrogyria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_unilateral focal polymicrogyria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cerebral cortical dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated focal cortical dysplasia type I)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated focal cortical dysplasia type Ia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated focal cortical dysplasia type Ib)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated focal cortical dysplasia type Ic)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated focal cortical dysplasia type II)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated focal cortical dysplasia type IIa)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated focal cortical dysplasia type IIb)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_encephaloclastic disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated Dandy-Walker malformation with hydrocephalus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated Dandy-Walker malformation without hydrocephalus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital communicating hydrocephalus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital non-communicating hydrocephalus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_median nodule of the upper lip)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Vitamin B12-unresponsive methylmalonic acidemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oculopharyngeal muscular dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Noonan syndrome-like disorder with loose anagen hair)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Ochoa syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oculocerebrofacial syndrome, Kaufman type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oculodental syndrome, Rutherfurd type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oculodentodigital dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Oculofaciocardiodental syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oculoosteocutaneous syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oculo-palato-cerebral syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oculo-skeletal-renal syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oculotrichoanal syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oculotrichodysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (Genetic digestive tract tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Genetic cardiac tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Genetic urogenital tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Genetic endocrine tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_genetic cardiac anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oculocerebral hypopigmentation syndrome, Cross type)\n\nSubClassOf( owl:Thing)\n\n# Class: (Congenital muscular dystrophy, Fukuyama type)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_odonto-onycho-dermal dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_odontotrichomelic syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Okamoto syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_postaxial tetramelic oligodactyly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_omodysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lethal omphalocele-cleft palate syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Bernard-Soulier syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ophthalmomandibulomelic dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_horizontal gaze palsy with progressive scoliosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Opitz G/BBB syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_opsismodysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oromandibular-limb hypogenesis syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_severe combined immunodeficiency due to DCLRE1C deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Dianzani autoimmune lymphoproliferative disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_myostatin-related muscle hypertrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_L1 syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_genetic infertility)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_alpha-thalassemia and related diseases)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_beta-thalassemia and related diseases)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sickle cell disease and related diseases)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lysosomal acid lipase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_idiopathic pulmonary arterial hypertension)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_heritable pulmonary arterial hypertension)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_behavioral variant of frontotemporal dementia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_frontotemporal dementia with motor neuron disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_T-B+ severe combined immunodeficiency due to gamma chain deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_OSLAM syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (Genetic neurodegenerative disease with dementia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_bile acid CoA ligase deficiency and defective amidation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_multiple endocrine neoplasia type 4)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_multiple endocrine neoplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinocerebellar ataxia type 32)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinocerebellar ataxia type 35)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinocerebellar ataxia type 36)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_progressive osseous heteroplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mucopolysaccharidosis type 6, rapidly progressing)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mucopolysaccharidosis type 6, slowly progressing)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_non-syndromic male infertility due to sperm motility disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Machado-Joseph disease type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Machado-Joseph disease type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Machado-Joseph disease type 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Hemihyperplasia-multiple lipomatosis syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_osteocraniostenosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyperbiliverdinemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_10q22.3q23.3 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_10q22.3q23.3 microduplication syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lower motor neuron syndrome with late-adult onset)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial hyperinsulinism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyperinsulinism due to UCP2 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant hyperinsulinism due to SUR1 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant hyperinsulinism due to Kir6.2 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_diazoxide-resistant hyperinsulinism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_symptomatic form of Coffin-Lowry syndrome in female carriers)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_carpotarsal osteochondromatosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Blount disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial osteodysplasia, Anderson type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Bruck syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_multicentric carpo-tarsal osteolysis with or without nephropathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive distal osteolysis syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_osteomesopyknosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_corticobasal degeneration)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_osteopetrosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lateral meningocele syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant osteosclerosis, Worth type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_otodental syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_otofaciocervical syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary neutrophilia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_vitamin B12-responsive methylmalonic acidemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Wolf-Hirschhorn syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ALG11-CDG)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_juvenile Paget disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_complement component 3 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_severe combined immunodeficiency due to LCK deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_septopreoptic holoprosencephaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked sideroblastic anemia with ataxia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_microform holoprosencephaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Pelizaeus-Merzbacher disease, connatal form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Pelizaeus-Merzbacher disease, classic form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Pelizaeus-Merzbacher disease, transitional form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Pelizaeus-Merzbacher disease in female carriers)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_null syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Pelizaeus-Merzbacher-like disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal monosomy 12p)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive limb-girdle muscular dystrophy type 2P)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Familial partial lipodystrophy associated with PLIN1 mutations)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_erythropoietic uroporphyria associated with myeloid malignancy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial omphalocele syndrome with facial dysmorphism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial steroid-resistant nephrotic syndrome with sensorineural deafness)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_fatal infantile hypertonic myofibrillar myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Warsaw breakage syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_rapidly progressive glomerulonephritis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Nestor-Guillermo progeria syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_chondrodysplasia with joint dislocations, gPAPP type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary sensorimotor neuropathy with hyperelastic skin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hemoglobinopathy Toms River)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_progressive myoclonic epilepsy type 6)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial progressive hyper- and hypopigmentation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_occipital pachygyria and polymicrogyria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_acrodysostosis with multiple hormone resistance)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Autosomal recessive nail dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial recurrent peripheral facial palsy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_inherited non-syndromic ichthyosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_inherited ichthyosis syndromic form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Syndromic X-linked ichthyosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive congenital ichthyosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_keratinopathic ichthyosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_self-healing collodion baby)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_acral self-healing collodion baby)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_annular epidermolytic ichthyosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital reticular ichthyosiform erythroderma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Parana hard-skin syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked ichthyosis syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal ichthyosis syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_frontotemporal dementia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial deletion of chromosome 12)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_inherited Creutzfeldt-Jakob disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_PARC syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_rhizomelic dysplasia, Patterson-Lowry type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_stiff skin syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_wrinkly skin syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_PEHO syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Pellagra-like skin rash - neurological manifestations)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pelvis-shoulder dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Larsen-like syndrome, B3GAT3 type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_craniosynostosis and dental anomalies)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Xp22.13p22.2 duplication syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial retinal arterial macroaneurysm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pentosuria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_infantile-onset autosomal recessive nonprogressive cerebellar ataxia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pontocerebellar hypoplasia type 7)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial intrahepatic cholestasis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_glycerol kinase deficiency, infantile form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_glycerol kinase deficiency, juvenile form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_glycerol kinase deficiency, adult form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_glycogen storage disease due to lactate dehydrogenase M-subunit deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_glycogen storage disease due to lactate dehydrogenase H-subunit deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pancreatic beta cell agenesis with neonatal diabetes mellitus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pericardial and diaphragmatic defect)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_qualitative or quantitative defects of troponin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_qualitative or quantitative defects of tropomyosin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ocular albinism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syndromic oculocutaneous albinism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_disorder of phenylalanine metabolism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_disorder of tyrosine metabolism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Perlman syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Marfan syndrome type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neonatal Marfan syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Marfan and Marfan-related disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Ehlers-Danlos syndrome, hypermobility type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Fuhrmann syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Perrault syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_disorder of folate metabolism and transport)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Ehlers-Danlos syndrome, vascular type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_short stature, Brussels type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Peutz-Jeghers syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Ehlers-Danlos syndrome, classic type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Pfeiffer-Palm-Teller syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cardiocranial syndrome, Pfeiffer type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_phakomatosis pigmentokeratotica)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_phakomatosis pigmentovascularis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_PHAVER syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_phocomelia, Schinzel type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary elliptocytosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_phosphoenolpyruvate carboxykinase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sitosterolemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_piebaldism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_TARP syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pili torti)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_disorders of vitamin D metabolism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypocalcemic rickets)\n\nSubClassOf( owl:Thing)\n\n# Class: (Hypocalcemic vitamin D-dependent rickets)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_autosomal recessive hypophosphatemic rickets)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Hypermethioninemia encephalopathy due to adenosine kinase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial vesicoureteral reflux)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_early-onset myopathy with fatal cardiomyopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_myosclerosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Pilotto syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_combined malonic and methylmalonic acidemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_12q15q21.1 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_microtriplication 11q24.1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_BAP1-related tumor predisposition syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Inherited isolated adrenal insufficiency due to CYP11A1 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Neurodegeneration with brain iron accumulation due to C19orf12 mutation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_exfoliative ichthyosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Pitt-Hopkins syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary arterial and articular multiple calcification syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pityriasis rubra pilaris)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_disorder of glutamine metabolism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_glutathione synthetase deficiency with 5-oxoprolinuria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_glutathione synthetase deficiency without 5-oxoprolinuria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neonatal glycine encephalopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_infantile glycine encephalopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_atypical glycine encephalopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Hypermethioninemia due to glycine N-methyltransferase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_brachyolmia-amelogenesis imperfecta syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_3-methylglutaconic aciduria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_vitamin B12-unresponsive methylmalonic acidemia type mut0)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mevalonic aciduria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Leri pleonosteosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial spontaneous pneumothorax)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary acrokeratotic poikiloderma, Weary type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary pheochromocytoma-paraganglioma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Kindler syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Rothmund-Thomson syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Poland syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_polydactyly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_polydactyly-myopia syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Oliver syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_juvenile polyposis syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Cronkhite-Canada syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial clubfoot due to 5q31 microdeletion)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial clubfoot due to PITX1 point mutation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_skin fragility-woolly hair-palmoplantar keratoderma syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_infantile-onset ascending hereditary spastic paralysis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_malignant migrating partial seizures of infancy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Grayson-Wilbrandt corneal dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_epithelial recurrent erosion dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pre-descemet corneal dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_crossed polysyndactyly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Congenital hereditary endothelial dystrophy type II)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked endothelial corneal dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_PYCR1-related de Barsy syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_constitutional dyserythropoietic anemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Craniofacial-ulnar-renal syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial isolated arrhythmogenic ventricular dysplasia, left dominant form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial isolated arrhythmogenic ventricular dysplasia, biventricular form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial isolated arrhythmogenic ventricular dysplasia, right dominant form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lethal occipital encephalocele-skeletal dysplasia syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_EDICT syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal Xq28 microduplication syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_1p21.3 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_childhood encephalopathy due to thiamine pyrophosphokinase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypertelorism-preauricular sinus-punctual pits-deafness syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypoinsulinemic hypoglycemia and body hemihypertrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_porencephaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_microcephaly-capillary malformation syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neonatal inflammatory skin and bowel disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_2q31.1 microduplication syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_multiple pterygium syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_renal-hepatic-pancreatic dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_intercalary limb defects)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_adactyly of hand)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_split hand or/and split foot malformation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_brachydactyly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_preaxial polydactyly of fingers)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_postaxial polydactyly of fingers)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital deformities of limbs)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital deformities of fingers)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_joint formation defects)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_popliteal pterygium syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lethal congenital contracture syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_amelia of upper limb)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_amelia of lower limb)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tetra-amelia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_humeral agenesis/hypoplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital absence of upper arm and forearm with hand present)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital absence of thigh and lower leg with foot present)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital absence of both forearm and hand)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital absence of both lower leg and foot)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_acheiria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_apodia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital absence/hypoplasia of thumb)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital absence/hypoplasia of fingers excluding thumb)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_split hand)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_split foot)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_constriction rings syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyperphalangy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_central polydactyly of fingers)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Preaxial polydactyly of toes)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syndactyly type 6)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial isolated clinodactyly of fingers)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_camptodactyly of fingers)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital pseudoarthrosis of the tibia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital pseudoarthrosis of the femur)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital pseudoarthrosis of the fibula)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital pseudoarthrosis of the radius)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital pseudoarthrosis of the ulna)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tibio-fibular synostosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital shoulder dislocation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital elbow dislocation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital knee dislocation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital patella dislocation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_patella aplasia/hypoplasia, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_patella aplasia/hypoplasia, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_macrodactyly of fingers)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_macrodactyly of toes)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_upper limb hypertrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lower limb hypertrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_amelia of upper limb, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_amelia of upper limb, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_amelia of lower limb, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_amelia of lower limb, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_humeral agenesis/hypoplasia, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_humeral agenesis/hypoplasia, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_femoral agenesis/hypoplasia, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_femoral agenesis/hypoplasia, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_radial hemimelia, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_radial hemimelia, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ulnar hemimelia, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ulnar hemimelia, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tibial hemimelia, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tibial hemimelia, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_fibular hemimelia, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_fibular hemimelia, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital absence of thigh and lower leg with foot present, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital absence of thigh and lower leg with foot present, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital absence of both forearm and hand, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital absence of both forearm and hand, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital absence of both lower leg and foot, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital absence of both lower leg and foot, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_acheiria, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_acheiria, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_apodia, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_apodia, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital absence/hypoplasia of thumb, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital absence/hypoplasia of thumb, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital absence/hypoplasia of fingers excluding thumb, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_adactyly of foot, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_adactyly of foot, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_split hand, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_split hand, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_split foot, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_split foot, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_brachydactyly of fingers, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_brachydactyly of fingers, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_brachydactyly of toes, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_brachydactyly of toes, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_symbrachydactyly of hand and foot, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_symbrachydactyly of hand and foot, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyperphalangy, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyperphalangy, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_polydactyly of a biphalangeal thumb, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_polydactyly of a biphalangeal thumb, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_polydactyly of a triphalangeal thumb, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_polydactyly of a triphalangeal thumb, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_polydactyly of an index finger, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_polydactyly of an index finger, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_polysyndactyly, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_polysyndactyly, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_postaxial polydactyly type A, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_postaxial polydactyly type A, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_postaxial polydactyly type B, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_postaxial polydactyly type B, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_central polydactyly of fingers, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_central polydactyly of fingers, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Preaxial polydactyly of toes, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Preaxial polydactyly of toes, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_zygodactyly type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_zygodactyly type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_zygodactyly type 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_zygodactyly type 4)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_synpolydactyly type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_synpolydactyly type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_synpolydactyly type 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital vertical talus, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital vertical talus, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_humero-radio-ulnar synostosis, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_humero-radio-ulnar synostosis, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_humero-radial synostosis, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_humero-radial synostosis, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_humero-ulnar synostosis, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_humero-ulnar synostosis, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_radio-ulnar synostosis, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_radio-ulnar synostosis, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Madelung deformity, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Madelung deformity, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital elbow dislocation, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital elbow dislocation, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital genu recurvatum)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital genu flexum)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital patella dislocation, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital patella dislocation, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_macrodactyly of fingers, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_macrodactyly of fingers, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_macrodactyly of toes, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_macrodactyly of toes, bilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Ehlers-Danlos syndrome, musculocontractural type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Prata-Liberal-Goncalves syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Guttmacher syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_de Barsy syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant prognathism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Protein R deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_leukocyte adhesion deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Proteus-like syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_prune belly syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_peroxisomal acyl-CoA oxidase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pseudoleprechaunism syndrome, Patterson type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_chronic intestinal pseudoobstruction)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mitochondrial neurogastrointestinal encephalomyopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pseudoprogeria syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_disorder of thiamine metabolism and transport)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_antecubital pterygium syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive multiple pterygium syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Bifunctional enzyme deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Ehlers-Danlos syndrome, kyphoscoliotic and deafness type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_transient infantile hypertriglyceridemia and hepatosteatosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_severe congenital hypochromic anemia with ringed sideroblasts)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pyknoachondrogenesis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_11p15.4 microduplication syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital cataract-hearing loss-severe developmental delay syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Autosomal dominant Charcot-Marie-Tooth disease type 2P)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Congenital blindness due to retinal non-attachment)\n\nSubClassOf( owl:Thing)\n\n# Class: (PLCG2-associated antibody deficiency and immune dysregulation)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_familial infantile gigantism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_progeroid and marfanoid aspect-lipodystrophy syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Pyle disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pseudohypoaldosteronism type 2D)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pseudohypoaldosteronism type 2E)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_DDOST-CDG)\n\nSubClassOf( owl:Thing)\n\n# Class: (Autosomal recessive infantile hypercalcemia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectIntersectionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))))\n\n# Class: (obsolete_pyridoxine-dependent epilepsy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_juvenile amyotrophic lateral sclerosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Pyruvate carboxylase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_radio-renal syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Ramon syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_epidermodysplasia verruciformis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_rapadilino syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_caudal regression sequence)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_NPHP3-related Meckel-like syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_delayed membranous cranial ossification)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_biliary atresia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_epidermolysis bullosa simplex)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_junctional epidermolysis bullosa)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked intellectual disability - short stature - obesity)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked intellectual disability, Brooks type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_benign familial infantile epilepsy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked intellectual disability, Schutz type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital sucrase-isomaltase deficiency with starch intolerance)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital sucrase-isomaltase deficiency with minimal starch tolerance)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital sucrase-isomaltase deficiency without starch intolerance)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital sucrase-isomaltase deficiency with starch and lactose intolerance)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital sucrase-isomaltase deficiency without sucrose intolerance)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_PTEN hamartoma tumor syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_LAMB2-related infantile-onset nephrotic syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial primary hypomagnesemia with hypocalcuria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial primary hypomagnesemia with normocalcuria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated hereditary congenital facial paralysis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Hereditary acrokeratotic poikiloderma of Kindler-Weary)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_porencephaly-microcephaly-bilateral congenital cataract syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_FADD-related immunodeficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sodium channelopathy-related small fiber neuropathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant Opitz G/BBB syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked Opitz G/BBB syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked complicated spastic paraplegia type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Normocalcemic tumoral calcinosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_hemiparkinsonism-hemiatrophy syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Kufor-Rakeb syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (Neurodegenerative disease with chorea)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_Primary myoclonus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Progressive epilepsy and/or ataxia with myoclonus as a major feature)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_motor stereotypies)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_juvenile myoclonic epilepsy)\n\nSubClassOf( owl:Thing)\n\n# Class: (Rare parkinsonian syndrome due to genetic neurodegenerative disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Miscellaneous movement disorder due to genetic neurodegenerative disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_Rare genetic myoclonus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Costello syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_diffuse palmoplantar keratoderma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated diffuse palmoplantar keratoderma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant diffuse mutilating palmoplantar keratoderma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_severe X-linked intellectual disability, Gustavson type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_focal palmoplantar keratoderma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated focal palmoplantar keratoderma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_intellectual disability, Buenos-Aires type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_punctate palmoplantar keratoderma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_marginal papular palmoplantar keratoderma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_intellectual disability, Wolff type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_focal acral hyperkeratosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_erythrokeratoderma variabilis progressiva)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_methylcobalamin deficiency type cblDv1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sulfite oxidase deficiency due to molybdenum cofactor deficiency type A)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sulfite oxidase deficiency due to molybdenum cofactor deficiency type B)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sulfite oxidase deficiency due to molybdenum cofactor deficiency type C)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_disorder of beta and omega amino acid metabolism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_vitamin B12-responsive methylmalonic acidemia, type cblDv2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_disorder of neutral amino acid transport)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_disorder of glycolysis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_disorder of fructose metabolism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_disorder of galactose metabolism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_erythrocyte galactose epimerase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_generalized galactose epimerase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_glycogen storage disease due to acid maltase deficiency, infantile onset)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant vitreoretinochoroidopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_retinohepatoendocrinologic syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Revesz syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_disorder of glyoxylate metabolism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial partial epilepsy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_disorder of carbohydrate absorption and transport)\n\nSubClassOf( owl:Thing)\n\n# Class: (Disorder of lipid metabolism)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_familial lipoprotein lipase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial apolipoprotein C-II deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mevalonate kinase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_disorder of lipid absorption and transport)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pancreatic triacylglycerol lipase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pancreatic colipase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_combined pancreatic lipase-colipase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Disorder of mitochondrial fatty acid oxidation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_acyl-CoA dehydrogenase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_3-hydroxyacyl-CoA dehydrogenase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_disorder of carnitine cycle and carnitine transport)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_gangliosidosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyper-beta-alaninemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_GM2 gangliosidosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Sandhoff disease, infantile form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Sandhoff disease, juvenile form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Sandhoff disease, adult form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Tay-Sachs disease, b variant, infantile form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Tay-Sachs disease, b variant, juvenile form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Tay-Sachs disease, b variant, adult form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Tay-Sachs disease, B1 variant)\n\nSubClassOf( owl:Thing)\n\n# Class: (Primary hypomagnesemia with secondary hypocalcemia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_atypical Gaucher disease due to saposin C deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_metachromatic leukodystrophy, late infantile form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_metachromatic leukodystrophy, juvenile form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_metachromatic leukodystrophy, adult form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_glycoproteinosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_alpha-mannosidosis, infantile form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_alpha-mannosidosis, adult form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sialidosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mucopolysaccharidosis type 4A)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mucopolysaccharidosis type 4B)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_disorder of sialic acid metabolism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_free sialic acid storage disease, infantile form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_intermediate severe Salla disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Salla disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lysosomal glycogen storage disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_disorder of lysosomal-related organelles)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_disorder of protein N-glycosylation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_disorder of protein O-glycosylation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_disorder of O-xylosylglycan synthesis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_disorder of O-N-acetylgalactosaminylglycan synthesis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_disorder of O-mannosylglycan synthesis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_atypical Rett syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_disorder of fucoglycosan synthesis)\n\nSubClassOf( owl:Thing)\n\n# Class: (Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_disorder of multiple glycosylation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_defect in conserved oligomeric Golgi complex)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Meacham syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_defect in V-ATPase)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_rhizomelic chondrodysplasia punctata type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_rhizomelic chondrodysplasia punctata type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_rhizomelic syndrome, Urbach type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_rhizomelic chondrodysplasia punctata type 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Disorder of peroxisomal alpha-, beta- and omega-oxidation)\n\nSubClassOf( owl:Thing)\n\n# Class: (Disorder of porphyrin and haem metabolism)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_disorder of pterin metabolism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_disorder of metabolite absorption and transport)\n\nSubClassOf( owl:Thing)\n\n# Class: (Disorder of vitamin and non-protein cofactor absorption and transport )\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_disorder of catecholamine synthesis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_disorder of other vitamins and cofactors metabolism and transport)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_disorder of mineral absorption and transport)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_disorder of copper metabolism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_disorder of iron metabolism and transport)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_disorder of zinc metabolism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_disorder of magnesium transport)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_disorder of manganese transport)\n\nSubClassOf( owl:Thing)\n\n# Class: (Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_oxoglutaricaciduria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Richieri Costa-da Silva syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Richieri Costa-Pereira syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Roberts syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Robinow-like syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant Robinow syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Rombo syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Rotor syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dermatofibrosarcoma protuberans)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Tangier disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypoalphalipoproteinemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypobetalipoproteinemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_epidermolytic ichthyosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Ruvalcaba syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_saccharopinuria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Sakati-Nyhan syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sarcosinemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lamellar ichthyosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Say-Barber-Miller syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Say-field-Coldwell syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_SCARF syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_alpha-N-acetylgalactosaminidase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_20p13 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Jawad syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ulnar-mammary syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_optic nerve edema-splenomegaly syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Coats plus syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_infantile cerebellar-retinal degeneration)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_FGFR2-related bent bone dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_12p12.1 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_developmental and speech delay due to SOX5 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_PENS syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_2q23.1 microduplication syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_erythroderma desquamativum)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_high bone mass osteogenesis imperfecta)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_7p22.1 microduplication syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary sensory and autonomic neuropathy type 6)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Xq12-q13.3 duplication syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant aplasia and myelodysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_schneckenbecken dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant cerebellar ataxia, deafness and narcolepsy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_young adult-onset distal hereditary motor neuropathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_15q overgrowth syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal tetrasomy 15q)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Chudley-McCullough syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_duplication of the pituitary gland)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_parkinsonism due to ATP13A2 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_5q31.3 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_segmental progressive overgrowth syndrome with fibroadipose hyperplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_TMEM165-CDG)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_combined immunodeficiency due to STK4 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_acquired porencephaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primary systemic amyloidosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primary localized amyloidosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lethal arteriopathy syndrome due to fibulin-4 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_atypical dentin dysplasia due to SMOC2 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_SHOX-related short stature)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_short stature due to partial GHR deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_short stature due to GHSR deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primary renal tubular acidosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant proximal renal tubular acidosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_severe Canavan disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mild Canavan disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked non progressive cerebellar ataxia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sclerosteosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Senior-Loken syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Progressive symmetric erythrokeratodermia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spastic ataxia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant spastic ataxia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive spastic ataxia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_SHORT syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_omphalocele syndrome, Shprintzen-Goldberg type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sialuria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Siegler-Brewer-Carey syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Sillence syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sirenomelia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_erythrokeratodermia variabilis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_infantile convulsions and choreoathetosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_T-B+ severe combined immunodeficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_T-B- severe combined immunodeficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_severe combined immunodeficiency due to DNA-PKcs deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_combined immunodeficiency due to ORAI1 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_combined immunodeficiency due to STIM1 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pancytopenia due to IKZF1 mutations)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_corneal-cerebellar syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spondylocamptodactyly syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pulmonary venoocclusive disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital myopathy with internal nuclei and atypical cores)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal 17p13.1 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Wiedemann-Steiner syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_diencephalic-mesencephalic junction dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_chondroectodermal dysplasia with night blindness)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_supravalvular aortic stenosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_inherited renal cancer-predisposing syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive myogenic arthrogryposis multiplex congenita)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Stern-Lubinsky-Durrie syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_inherited acute myeloid leukemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_acute myeloid leukemia with CEBPA somatic mutations)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial papillary or follicular thyroid carcinoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial nonmedullary thyroid carcinoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_combined oxidative phosphorylation defect type 8)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_combined oxidative phosphorylation defect type 9)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_combined oxidative phosphorylation defect type 13)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_combined oxidative phosphorylation defect type 14)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_combined oxidative phosphorylation defect type 15)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked mendelian susceptibility to mycobacterial diseases)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_amyloidosis cutis dyschromia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_retinal macular dystrophy type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_PGM-CDG)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_constitutional megaloblastic anemia with severe neurologic disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_microcephalic primordial dwarfism, Alazami type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary hyperekplexia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Stimmler syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_apparent mineralocorticoid excess)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dehydrated hereditary stomatocytosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_overhydrated hereditary stomatocytosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Cleft lip/palate - ectodermal dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked pure spastic paraplegia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pure or complex hereditary spastic paraplegia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pure or complex autosomal dominant spastic paraplegia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pure or complex autosomal recessive spastic paraplegia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pure or complex X-linked spastic paraplegia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_maternally-inherited spastic paraplegia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Sturge-Weber syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Stüve-Wiedemann syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Isolated succinate-CoQ reductase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Summitt syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_deaf blind hypopigmentation syndrome, Yemenite type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_fountain syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_exstrophy-epispadias complex)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Deafness - enamel hypoplasia - nail defects)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_generalized resistance to thyroid hormone)\n\nSubClassOf( owl:Thing)\n\n# Class: (Genetic tumor of hematopoietic and lymphoid tissues)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_phosphoribosylpyrophosphate synthetase superactivity)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_deafness-onychodystrophy syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_progressive deafness with stapes fixation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_multiple synostoses syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cardiospondylocarpofacial syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Fabry disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_deafness-craniofacial syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Renpenning syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_early-onset Lafora body disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_T-cell immunodeficiency with epidermodysplasia verruciformis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_severe lateral tibial bowing with short stature)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_9p13 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sinoatrial node dysfunction and deafness)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital achiasma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mixed sclerosing bone dystrophy with extra-skeletal manifestations)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary inclusion body myopathy type 4)\n\nSubClassOf( owl:Thing)\n\n# Class: (ALG13-CDG)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_combined oxidative phosphorylation defect type 11)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypopigmentation-punctate palmoplantar keratoderma syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pontocerebellar hypoplasia type 8)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyperinsulinism due to HNF1A deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_benign Samaritan congenital myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_symphalangism with multiple anomalies of hands and feet)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked cleft palate and ankyloglossia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_SRD5A3-CDG)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_microcephalic primordial dwarfism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_trichorhinophalangeal syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal symphalangism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary periodic fever syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_JMP syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_proximal symphalangism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_CANDLE syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_46,XX disorder of gonadal development)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_46,XX disorder of sex development induced by fetoplacental androgens excess)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_46,XY disorder of gonadal development)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_testicular agenesis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_46,XY ovotesticular disorder of sex development)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Filippi syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_classic congenital lipoid adrenal hyperplasia due to STAR deficency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_non-classic congenital lipoid adrenal hyperplasia due to STAR deficency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sex chromosome disorder of sex development)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syndactyly-polydactyly-ear lobe syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital factor V deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autoimmune lymphoproliferative syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syngnathia multiple anomalies)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_humero-radio-ulnar synostosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial lambdoid synostosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Radio-ulnar synostosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital factor VII deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital factor X deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_His bundle tachycardia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_catecholaminergic polymorphic ventricular tachycardia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_taurodontism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital factor XI deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Teebi-Shaltout syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital muscular dystrophy with intellectual disability and severe epilepsy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_developmental delay with autism spectrum disorder and gait instability)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Tel Hashomer camptodactyly syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Autosomal dominant neovascular inflammatory vitreoretinopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_microcephalic primordial dwarfism due to ZNF335 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked central congenital hypothyroidism with late-onset testicular enlargement)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Beta-propeller protein-associated neurodegeneration)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_PLA2G6-associated neurodegeneration)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_fatty acid hydroxylase-associated neurodegeneration)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary thrombocytosis with transverse limb defect)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive frontotemporal pachygyria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_extensor tendons of finger anomalies)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal arthrogryposis type 5D)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_adult-onset distal myopathy due to VCP mutation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lipoprotein glomerulopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mosaic genome-wide paternal uniparental disomy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_immunoglobulin-mediated membranoproliferative glomerulonephritis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_non-immunoglobulin-mediated membranoproliferative glomerulonephritis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_C3 glomerulonephritis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_transient neonatal multiple acyl-CoA dehydrogenase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_intermittent hydrarthrosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_generalized juvenile polyposis/juvenile polyposis coli)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isovaleric acidemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital factor XII deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypotrichosis-deafness syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_duplication/inversion 15q11)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_metaphyseal chondrodysplasia, Jansen type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tetrasomy 18p)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tetrasomy 5p)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital factor XIII deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tetrasomy 9p)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lethal multiple pterygium syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal agammaglobulinemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive severe congenital neutropenia due to G6PC3 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_immunodeficiency due to MASP-2 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_immunodeficiency due to ficolin3 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Severe combined immunodeficiency due to complete RAG1/2 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Other immunodeficiency syndrome due to defects in adaptive immunity)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyper-IgE syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_selective IgM deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Thiemann disease, familial form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_thiopurine S-methyltransferase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Thomas syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_thoracolaryngopelvic dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital amegakaryocytic thrombocytopenia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Hoyeraal-Hreidarsson syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial thrombomodulin anomalies)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_thymic-renal-anal-lung dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_thyrocerebrorenal syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Farber lipogranulomatosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_reticular dysgenesis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_trichothiodystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primary Fanconi syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Toriello-Carey syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Toriello-Lacassie-Droste syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial atrial fibrillation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_arterial tortuosity syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Weismann-Netter syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neuroectodermal melanolysosomal disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital fibrinogen deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_trichodental syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tricho-dento-osseous syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tricho-oculo-dermo-vertebral syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_trichoodontoonychial dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant trichoodontoonychodysplasia-syndactyly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_5-oxoprolinase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_gamma-glutamyl transpeptidase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_gamma-glutamylcysteine synthetase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated trigonocephaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_fibrodysplasia ossificans progressiva)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_trisomy X)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_triploidy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_trisomy 13)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal trisomy 17q)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial multiple fibrofolliculoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_trisomy 18)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_humerus trochlea aplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated anterior cervical hypertrichosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neural tube defect)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tuberculosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_transient tyrosinemia of the newborn)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Ulbright-Hodes syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ulerythema ophryogenesis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Upington disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_urban-Rogers-Meyer syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_VACTERL with hydrocephalus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant medullary cystic kidney disease with or without hyperuricemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyperostosis corticalis generalisata)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_van den Bosch syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial Mediterranean fever)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Naxos disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_velo-facial-skeletal syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_double outlet right ventricle)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Verloove Vanhorick-Brubakk syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyperimmunoglobulinemia D with periodic fever)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_MMEP syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Vogt-Koyanagi-Harada disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_von Voss-Cherstvoy syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Waardenburg syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Weaver syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Weaver-Williams syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Weill-Marchesani syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Weissenbacher- Zweymuller syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_West syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive limb-girdle muscular dystrophy type 2G)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive limb-girdle muscular dystrophy type 2I)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Distal myopathy with early respiratory muscle involvement)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial primary hypomagnesemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial primary hypomagnesemia with normocalciuria and normocalcemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (Autosomal dominant primary hypomagnesemia with hypocalciuria)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_corneal dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Wiedemann-Rautenstrauch syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Wildervanck syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Glycogen storage disease due to LAMP-2 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Wilson-Turner syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Wolfram syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Woodhouse-Sakati syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_WT limb-blood syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary xanthinuria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Frasier syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Young syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Yunis-Varon syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Zimmermann-Laband syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_CHIME syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_fructose-1,6-bisphosphatase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_fucosidosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_propionic acidemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Infantile neuroaxonal dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_T-B+ severe combined immunodeficiency due to JAK3 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated scaphocephaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated plagiocephaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated brachycephaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_galactosialidosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_desmosterolosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hemolytic anemia due to pyrimidine 5' nucleotidase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital sucrase-isomaltase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_epidermal nevus syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_galactosemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_disorder of phospholipids, sphingolipids and fatty acids biosynthesis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mitochondrial DNA maintenance syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mitochondrial DNA deletion syndrome with progressive myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_autism spectrum disorder due to AUTS2 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_infantile hypertrophic cardiomyopathy due to MRPL44 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial infantile myoclonic epilepsy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_progressive myoclonic epilepsy with dystonia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_16q24.1 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_phalangeal microgeodic syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive cerebellar ataxia with late-onset spasticity)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_brain dopamine-serotonin vesicular transport disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary benign intraepithelial dyskeratosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_9q21 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cobblestone lissencephaly without muscular or ocular involvement)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_progressive retinal dystrophy due to retinol transport defect)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_attenuated Chédiak-Higashi syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_disorder of melanin metabolism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oculocutaneous albinism type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_minimal pigment oculocutaneous albinism type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_temperature-sensitive oculocutaneous albinism type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oculocutaneous albinism type 7)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive limb-girdle muscular dystrophy type 2C)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial primary localized cutaneous amyloidosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Rubinstein-Taybi syndrome due to CREBBP mutations)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Rubinstein-Taybi syndrome due to 16p13.3 microdeletion)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Rubinstein-Taybi syndrome due to EP300 haploinsufficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Roifman syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pyruvate carboxylase deficiency, infantile form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pyruvate carboxylase deficiency, severe neonatal type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pyruvate carboxylase deficiency, benign type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital myasthenic syndromes with glycosylation defect)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_GM1 gangliosidosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Gaucher disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Gerstmann-Straussler-Scheinker syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_nanophthalmia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_coenzyme Q10 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ALDH18A1-related de Barsy syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Madelung deformity)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_3q26q27 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_SLC35A2-CDG)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_D,L-2-hydroxyglutaric aciduria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mitochondrial DNA depletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_atypical hemolytic-uremic syndrome with DGKE deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_3-hydroxy-3-methylglutaryl-CoA synthase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_unilateral retinoblastoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_amyotrophic lateral sclerosis type 4)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neurometabolic disorder due to serine deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive cutis laxa type 2A)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_glutaric acidemia type 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive cutis laxa type 2B)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive cutis laxa type 2, classic type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_aromatic L-amino acid decarboxylase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_glucose-galactose malabsorption)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primary non-essential cutis verticis gyrata)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_severe combined immunodeficiency due to CARD11 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_morning glory syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Gitelman syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyperinsulinism-hyperammonemia syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary glaucoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_combined deficiency of factor V and factor VIII)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_polymicrogyria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_acrocallosal syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial glucocorticoid deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital anomaly of the great veins)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Genetic progeroid syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_genetic syndromic Pierre Robin syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_genetic intestinal polyposis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_high myopia-sensorineural deafness syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_severe neurodegenerative syndrome with lipodystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_fetal akinesia-cerebral and retinal hemorrhage syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypomyelination with brain stem and spinal cord involvement and leg spasticity)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_temtamy preaxial brachydactyly syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant childhood-onset proximal spinal muscular atrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_intellectual disability-strabismus syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mitochondrial DNA depletion syndrome, hepatocerebrorenal form)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_leukoencephalopathy with mild cerebellar ataxia and white matter edema)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_LMNA-related cardiocutaneous progeria syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive limb-girdle muscular dystrophy type 2T)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mandibular hypoplasia-deafness-progeroid syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked parkinsonism-spasticity syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_20q11.2 microduplication syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_acroosteolysis-keloid-like lesions-premature aging syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal monosomy 1q)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_childhood-onset autosomal recessive myopathy with external ophthalmoplegia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_2p13.2 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_craniofaciofrontodigital syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinocerebellar ataxia type 37)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Alexander disease type I)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Alexander disease type II)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked dyserythropoetic anemia with abnormal platelets and neutropenia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Familial vascular leukoencephalopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary sensory and autonomic neuropathy type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Koolen-de Vries syndrome due to a point mutation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive cerebral atrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Charcot-Marie-Tooth disease type 4B3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial benign flecked retina)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked intellectual disability due to GRIA3 anomalies)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_severe early-childhood-onset retinal dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_infantile epileptic-dyskinetic encephalopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bipartite talus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Frontootopalatodigital syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_acrofacial dysostosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_intellectual disability-brachydactyly-Pierre Robin syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_aggrecan-related bone disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_TRPV4-related bone disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primary short bowel syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Glycogen storage disease due to glycogen debranching enzyme deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_glycogen storage disease due to glycogen branching enzyme deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Glycogen storage disease due to muscle glycogen phosphorylase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_myoclonus-dystonia syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Glycogen storage disease due to liver glycogen phosphorylase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_intellectual disability-hyperkinetic movement-truncal ataxia syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_obesity due to SIM1 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_2p21 microdeletion syndrome without cystinuria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_homozygous 2p21 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_orofaciodigital syndrome type 14)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_combined oxidative phosphorylation defect type 17)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pontocerebellar hypoplasia type 9)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_aldosterone-producing adenoma with seizures and neurological abnormalities)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_CADDS)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_intellectual disability-seizures-macrocephaly-obesity syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_methylmalonic acidemia with homocystinuria, type cblJ)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_methylmalonic acidemia with homocystinuria, type cblX)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_severe dermatitis-multiple allergies-metabolic wasting syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_diffuse palmoplantar keratoderma with painful fissures)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_acrodermatitis enteropathica)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_focal palmoplantar keratoderma with joint keratoses)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_intellectual disability-facial dysmorphism-hand anomalies syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spondyloepimetaphyseal dysplasia, Isidor type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spondylometaphyseal dysplasia, Czarny-Ratajczak type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial syringomyelia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oculocutaneous albinism type 5)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oculocutaneous albinism type 6)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Primary dystonia, DYT17 type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_combined cervical dystonia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Medich giant platelet syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_white platelet syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_STT3A-CDG)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_STT3B-CDG)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_SSR4-CDG)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_XYLT1-CDG)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ST3GAL5-CDG)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Salt-and-pepper syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (Autism spectrum disorder-epilepsy-arthrogryposis syndrome)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_congenital muscular dystrophy with cerebellar involvement)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital muscular dystrophy with intellectual disability)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital muscular dystrophy without intellectual disability)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_muscle-eye-brain disease with bilateral multicystic leucodystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Glycogen storage disease due to muscle phosphofructokinase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital muscular dystrophy with hyperlaxity)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_qualitative or quantitative defects of alpha-dystroglycan)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primary qualitative or quantitative defects of alpha-dystroglycan)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital disorder of glycosylation-related bone disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Hypotonia-speech impairment-severe cognitive delay syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_multicentric osteolysis-nodulosis-arthropathy spectrum)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Genetic hyperaldosteronism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Simpson-Golabi-Behmel syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Goldenhar syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Gordon syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_episodic ataxia type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_generalized isolated dystonia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Gorlin syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_chronic granulomatous disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Acrokeratoelastoidosis of Costa)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Greig cephalopolysyndactyly syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_guanidinoacetate methyltransferase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_palmoplantar keratoderma-sclerodactyly syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neurodegeneration with brain iron accumulation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Hirschsprung disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dihydropyrimidinuria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Omenn syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_infantile-onset mesial temporal lobe epilepsy with severe cognitive regression)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_East Texas bleeding disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked calvarial hyperostosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked osteoporosis with fractures)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_fatal post-viral neurodegenerative disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_growth retardation-mild developmental delay-chronic hepatitis syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_intellectual disability-severe speech delay-mild dysmorphism syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_disorder of asparagine metabolism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial episodic pain syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial episodic pain syndrome with predominantly upper body involvement)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial episodic pain syndrome with predominantly lower limb involvement)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary sensory and autonomic neuropathy type 7)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primary microcephaly-mild intellectual disability-young-onset diabetes syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_atypical juvenile parkinsonism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_HSD10 disease, infantile type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_HSD10 disease, neonatal type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_frontorhiny)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Feingold syndrome type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Feingold syndrome type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_homozygous familial hypercholesterolemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_persistent combined dystonia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Holt-Oram syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_46,XX testicular disorder of sex development)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Multiple acyl-CoA dehydrogenation deficiency, mild type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_homocystinuria due to methylene tetrahydrofolate reductase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Activated PIK3-delta syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_macrocephaly-developmental delay syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_obesity due to CEP19 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary isolated aplastic anemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_3q27.3 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Joubert syndrome with Jeune asphyxiating thoracic dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_periodic paralysis with later-onset distal motor neuropathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_periodic paralysis with transient compartment-like syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_severe combined immunodeficiency due to IKK2 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_T+ B+ severe combined immunodeficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ferro-cerebro-cutaneous syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_polyglucosan body myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_MAN1B1-CDG)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Autosomal recessive spastic paraplegia type 58)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_microcephaly-thin corpus callosum-intellectual disability syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_TCR-alpha-beta-positive T-cell deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_combined immunodeficiency due to MALT1 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Charcot-Marie-Tooth disease type 2R)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_intellectual disability-obesity-prognathism-eye and skin anomalies syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Prader-Willi-like syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oculoauriculofrontonasal syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_focal facial dermal dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_focal facial dermal dysplasia type II)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_focal facial dermal dysplasia type IV)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_malignant epithelial tumor of ovary)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Huntington disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Finnish upper limb-onset distal myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_nebulin-related early-onset distal myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_osteonecrosis of genetic origin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_avascular necrosis of genetic origin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_osteochondrosis of genetic origin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_male infertility with azoospermia or oligozoospermia due to single gene mutation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_male infertility with teratozoospermia due to single gene mutation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pancytopenia-developmental delay syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_proximal myopathy with extrapyramidal signs)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive spastic paraplegia type 59)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive spastic paraplegia type 60)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive spastic paraplegia type 66)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive spastic paraplegia type 67)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive spastic paraplegia type 68)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive spastic paraplegia type 69)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive spastic paraplegia type 70)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive spastic paraplegia type 71)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lipoic acid synthetase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lipoyl transferase 1 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spasticity-ataxia-gait anomalies syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Huntington disease-like syndrome due to C9ORF72 expansions)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_AXIN2-related attenuated familial adenomatous polyposis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_9q31.1q31.3 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_14q24.1q24.3 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial median cleft of the upper and lower lips)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Moyamoya disease with early-onset achalasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_MEND syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_1p31p32 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_karyomegalic interstitial nephritis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive distal renal tubular acidosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial bicuspid aortic valve)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Progressive myoclonic epilepsy type 5)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Familial hyperaldosteronism type I)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial hyperaldosteronism type II)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tall stature-intellectual disability-facial dysmorphism syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_multisystemic smooth muscle dysfunction syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_female infertility due to zona pellucida defect)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_severe intellectual disability-progressive spastic diplegia syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinal muscular atrophy with respiratory distress type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked distal hereditary motor neuropathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial atypical multiple mole melanoma syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dysostosis of genetic origin)\n\nSubClassOf( owl:Thing)\n\n# Class: (Rare genetic bone development disorder)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_familial hypocalciuric hypercalcemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_glycine encephalopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated glycerol kinase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyperkeratosis lenticularis perstans)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dyschromatosis symmetrica hereditaria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyperlipoproteinemia type 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primary failure of tooth eruption)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primary hyperoxaluria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neonatal severe primary hyperparathyroidism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital adrenal hyperplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyperprolinemia type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_medium chain acyl-CoA dehydrogenase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_iminoglycinuria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_idiopathic and/or familial pulmonary arterial hypertension)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial hyperthyroidism due to mutations in TSH receptor)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_apolipoprotein A-I deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_PFAPA syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Tietz syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial hypoaldosteronism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_severe congenital neutropenia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_PHACE syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant hypocalcemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypochondroplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary myopathy with lactic acidosis due to ISCU deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Normosmic congenital hypogonadotropic hypogonadism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Ito hypomelanosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypophosphatasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypophosphatemic rickets)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Neonatal adrenoleukodystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Familial hypospadias)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital hypothyroidism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyperostosis cranialis interna)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Marie Unna hereditary hypotrichosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neonatal hemochromatosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Paroxysmal nocturnal hemoglobinuria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tremor - ataxia - central hypomyelination syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hemophilia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_regressive spondylometaphyseal dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_gastrointestinal stromal tumor)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_adenosine monophosphate deaminase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked lissencephaly with abnormal genitalia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital fibrosis of extraocular muscles)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Miyoshi myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_superficial epidermolytic ichthyosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_adenylosuccinate lyase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lathosterolosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_recessive X-linked ichthyosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_paroxysmal extreme pain disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_incontinentia pigmenti)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital plasminogen activator inhibitor type 1 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_fatal familial insomnia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Char syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_non-acquired combined pituitary hormone deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary fructose intolerance)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lysinuric protein intolerance)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Familial papillary renal cell carcinoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (Familial cold urticaria)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_proximal renal tubular acidosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Jeune syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Joubert syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_KID syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Kallmann syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital bilateral absence of vas deferens)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Kearns-Sayre syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Kennedy disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital high-molecular-weight kininogen deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Kniest dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant severe congenital neutropenia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Krabbe disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_urachal cyst)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_aceruloplasminemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_female infertility due to oocyte meiotic arrest)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_global developmental delay - neuro-ophthalmological abnormalities - seizures - intellectual disability syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dentinogenesis imperfecta)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial keratoacanthoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_achromatopsia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_keratoderma hereditarium mutilans)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_transgrediens et progrediens palmoplantar keratoderma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_keratosis pilaris atrophicans)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_thiamine-responsive megaloblastic anemia syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_long chain 3-hydroxyacyl-CoA dehydrogenase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Aicardi syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_LEOPARD syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Lafora disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_alkaline ceramidase 3 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Graham Little-Piccardi-Lassueur syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Leigh syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_talo-patello-scaphoid osteolysis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Zellweger-like syndrome without peroxisomal anomalies)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_craniolenticulosutural dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_branchiogenic deafness syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Keratosis palmoplantaris striata)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_keratolytic winter erythema)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Lesch-Nyhan syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_torsade-de-pointes syndrome with short coupling interval)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_maple syrup urine disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ethylmalonic encephalopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_metachromatic leukodystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_formiminoglutamic aciduria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cobblestone lissencephaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Alagille syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Potocki-Shaffer syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Braddock syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Congenital vertebral-cardiac-renal anomalies syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Premature chromosome condensation with microcephaly and intellectual disability)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary leiomyomatosis and renal cell cancer)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Li-Fraumeni syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_retinitis punctata albescens)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_inclusion body myopathy with Paget disease of bone and frontotemporal dementia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Pseudo-von Willebrand disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Liddle syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Berardinelli-Seip congenital lipodystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Roch-Leri mesosomatous lipomatosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lipoid proteinosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Muenke syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial cutaneous collagenoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Brody myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked dystonia-parkinsonism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary geniospasm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oculocerebrorenal syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Goldmann-Favre syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital lactase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital cornea plana)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_GRACILE syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_gnathodiaphyseal dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyaline body myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Tumoral calcinosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Wyburn-Mason syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal hereditary motor neuropathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lymphangioleiomyomatosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked recessive ocular albinism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_posterior cortical atrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_left ventricular noncompaction)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primary membranoproliferative glomerulonephritis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oculocutaneous albinism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant limb-girdle muscular dystrophy type 1F)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant limb-girdle muscular dystrophy type 1G)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypotrichosis simplex)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated anorectal malformation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Marfan syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_adamantinoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_alkaptonuria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Marshall syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Marshall-Smith syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_McCune-Albright syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_atelosteogenesis type II)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_atelosteogenesis type III)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Meckel syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Menkes disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital microcoria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_22q11.2 deletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_microphthalmia, Lenz type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial or sporadic hemiplegic migraine)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_glycogen storage disease due to aldolase A deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_monilethrix)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_monosomy 21)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Muckle-Wells syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Mucolipidosis type II)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mucolipidosis type III)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Mazabraud syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mucolipidosis type IV)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mucopolysaccharidosis type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Alexander disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mucopolysaccharidosis type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mucopolysaccharidosis type 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mucopolysaccharidosis type 4)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mucopolysaccharidosis type 6)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mucopolysaccharidosis type 7)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cystic fibrosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Muir-Torre syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_muscle-eye-brain disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Allan-Herndon-Dudley syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_myofibrillar myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Ichthyosis - hypotrichosis - sclerosing cholangitis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_gestational trophoblastic neoplasm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_McLeod neuroacanthocytosis syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_centronuclear myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked centronuclear myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_multiminicore myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal myopathy with vocal cord weakness)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_parietal foramina)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pulmonary alveolar microlithiasis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Loeys-Dietz syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_megalencephaly-capillary malformation-polymicrogyria syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital heart block)\n\nSubClassOf( owl:Thing)\n\n# Class: (Distal myopathy, Nonaka type)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_distal myopathy, Welander type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_nemaline myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tibial muscular dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_alpha-mannosidosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Bethlem myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_potassium-aggravated myotonia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Thomsen and Becker disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial atrial myxoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital primary megaureter)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial melanoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive limb-girdle muscular dystrophy type 2D)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_common mesentery)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary methemoglobinemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_homocystinuria without methylmalonic aciduria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial multiple nevi flammei)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_large congenital melanocytic nevus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Nance-Horan syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_short stature due to growth hormone qualitative anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Alport syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_iniencephaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_craniorachischisis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal myopathy with posterior leg and anterior hand involvement)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Laron syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Netherton syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated oxycephaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_angel-shaped phalango-epiphyseal dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_acrocapitofemoral dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_patterned dystrophy of the retinal pigment epithelium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neurofibromatosis type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neurofibromatosis type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neurofibromatosis-Noonan syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Alström syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary neuropathy with liability to pressure palsies)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary sensory and autonomic neuropathy type 4)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_childhood absence epilepsy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_giant axonal neuropathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_NARP syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_acrofacial dysostosis, Kennedy-Teebi type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Niemann-Pick disease type C)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Tolosa-Hunt syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Nijmegen breakage syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_iridocorneal endothelial syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ovarian hyperstimulation syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Autosomal dominant Charcot-Marie-Tooth disease type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Charcot-Marie-Tooth disease type 4)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Hereditary motor and sensory neuropathy type 5)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary sensory and autonomic neuropathy type 5)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_nevus comedonicus syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Becker nevus syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Noonan syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Norrie disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Leber congenital amaurosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_LCAT deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_multiple endocrine neoplasia type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Timothy syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_biotin-responsive basal ganglia disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Lhermitte-Duclos disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_beta-ureidopropionase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_multiple endocrine neoplasia type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_nephronophthisis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial idiopathic steroid-resistant nephrotic syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_benign recurrent intrahepatic cholestasis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated focal cortical dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital isolated hyperinsulinism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Multiple keratoacanthoma, Ferguson-Smith type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Charcot-Marie-Tooth disease type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Carpenter syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Goodman syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Mutilating palmoplantar keratoderma with periorificial keratotic plaques)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_maternally-inherited progressive external ophthalmoplegia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Ornithine transcarbamylase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_osteogenesis imperfecta)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_obesity due to congenital leptin deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Goldberg-Shprintzen megacolon syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital pseudoarthrosis of clavicle)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_CEDNIK syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_diaphanospondylodysostosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Otopalatodigital syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_late-onset retinal degeneration)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_thrombocytopenia with congenital dyserythropoietic anemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked intellectual disability with isolated growth hormone deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_3-methylglutaconic aciduria type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_3-methylglutaconic aciduria type 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_3-methylglutaconic aciduria type 4)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Pallister-Hall syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_accessory pancreas)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_annular pancreas)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary chronic pancreatitis)\n\nSubClassOf( owl:Thing)\n\n# Class: (Papillon-Lefèvre syndrome)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_malignant atrophic papulosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypokalemic periodic paralysis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyperkalemic periodic paralysis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_progressive supranuclear palsy)\n\nSubClassOf( owl:Thing)\n\n# Class: (Rare genetic tumor)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectIntersectionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))))\n\n# Class: (obsolete_leukodystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hemoglobinopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (Lysosomal disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_inborn errors of metabolism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_peroxisomal disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mitochondrial disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neurometabolic disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_paramyotonia congenita of Von Eulenburg)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary spastic paraplegia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_odonto-tricho-ungual-digito-palmar syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ectodermal dysplasia with natal teeth, Turnpenny type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pure hair and nail ectodermal dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_limb-mammary syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Naegeli-Franceschetti-Jadassohn syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_anonychia with flexural pigmentation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_low phospholipid associated cholelithiasis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Bosley-Salih-Alorainy syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Pearson syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_proximal spinal muscular atrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_alopecia totalis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Pelizaeus-Merzbacher disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital lactic acidosis, Saguenay-Lac-Saint-Jean type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Leigh syndrome with cardiomyopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Pendred syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bronchopulmonary dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_immunodeficiency due to selective anti-polysaccharide antibody deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dopa-responsive dystonia due to sepiapterin reductase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Peters anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Peters plus syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_chylomicron retention disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Pfeiffer syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hemolytic anemia due to glucophosphate isomerase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Retinal cavernous hemangioma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Rh deficiency syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_encephalopathy due to GLUT1 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital brain dysgenesis due to glutamine synthetase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Familial platelet syndrome with predisposition to acute myelogenous leukemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_glycogen storage disease due to phosphoglycerate kinase 1 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hemolytic anemia due to diphosphoglycerate mutase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial thrombocytosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Glycogen storage disease due to muscle phosphorylase kinase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_benign paroxysmal torticollis of infancy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_obesity due to pro-opiomelanocortin deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_obesity due to prohormone convertase I deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_obesity due to melanocortin 4 receptor deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_phenylketonuria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Isolated Pierre Robin syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Angelman syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pili bifurcati)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_gray platelet syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypoplasminogenemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_continuous spikes and waves during sleep)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Gorham-Stout disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive polycystic kidney disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bleeding diathesis due to a collagen receptor defect)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_growth delay due to insulin-like growth factor type 1 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_growth delay due to insulin-like growth factor I resistance)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Alpha delta granule deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_porokeratosis of Mibelli)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_porokeratosis plantaris palmaris et disseminata)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_porphyria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Prader-Willi syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Hutchinson-Gilford progeria syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_prolidase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary thrombophilia due to congenital protein S deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Proteus syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary thrombophilia due to congenital protein C deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mitochondrial trifunctional protein deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pseudoachondroplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Wolman disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cholesteryl ester storage disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial isolated restrictive cardiomyopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_retinal arterial tortuosity)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_North Carolina macular dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_progressive bifocal chorioretinal atrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bradyopsia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_central areolar choroidal dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oligocone trichromacy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Oguchi disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Ehlers-Danlos syndrome, periodontitis type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_androgen insensitivity syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (Ehlers-Danlos syndrome, progeroid type)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_X-linked Ehlers-Danlos syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Leydig cell hypoplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Ehlers-Danlos syndrome, fibronectinemic type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_angioosteohypotrophic syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked sideroblastic anemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pseudohypoaldosteronism type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pseudohypoaldosteronism type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_6q terminal deletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_MORM syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_purine nucleoside phosphorylase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pycnodysostosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pyruvate dehydrogenase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial long QT syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Rabson-Mendenhall syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_aniridia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Infantile Refsum disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primary lymphedema)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Lipedema)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Niemann-Pick disease type A)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Niemann-Pick disease type B)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_odontoleukodystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Morgagni-Stewart-Morel syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Majeed syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (Refsum disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_monosomy 9q22.3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary hemorrhagic telangiectasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked intellectual disability with marfanoid habitus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Rett syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Axenfeld-Rieger syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Rubinstein-Taybi syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_glucocorticoid resistance)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_retinoblastoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Simpson-Golabi-Behmel syndrome type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (Disorder of amino acid and other organic acid metabolism)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_juvenile polyposis of infancy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Familial partial lipodystrophy associated with PPARG mutations)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_grange syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (Congenital bile acid synthesis defect type 4)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_pyridoxal phosphate-responsive seizures)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_folinic acid-responsive seizures)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_retinitis pigmentosa)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_atrophoderma vermiculata)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyperprolinemia type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_thyrotoxic periodic paralysis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Eiken syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mandibulofacial dysostosis-microcephaly syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_focal facial dermal dysplasia type I)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_DEND syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_episodic ataxia type 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_episodic ataxia type 4)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary painful callosities)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial Dupuytren contracture)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Dowling-Degos disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial progressive hyperpigmentation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial reactive perforating collagenosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dermochondrocorneal dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_linear and whorled nevoid hypermelanosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Acrokeratosis verruciformis of Hopf)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_disseminated superficial actinic porokeratosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_2-aminoadipic 2-oxoadipic aciduria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_encephalopathy due to hydroxykynureninuria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_2-methylbutyryl-CoA dehydrogenase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cerebral organic aciduria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isobutyryl-CoA dehydrogenase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (Disorder of carbohydrate metabolism)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_classic organic aciduria)\n\nSubClassOf( owl:Thing)\n\n# Class: (Disorder of cobalamin metabolism and transport)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_Disorder of creatine biosynthesis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_gluconeogenesis disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_glucose transport disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (Peroxisomal beta-oxidation disorder)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (Peroxisome biogenesis disorder-Zellweger syndrome spectrum)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_sterol biosynthesis disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked retinoschisis)\n\nSubClassOf( owl:Thing)\n\n# Class: (Disorder of energy metabolism)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_glycogen storage disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mucolipidosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mucopolysaccharidosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (Disorder of biogenic amine metabolism and transport)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_oligosaccharidosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_metabolic disease involving other neurotransmitter deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (Disorder of purine or pyrimidine metabolism)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_sphingolipidosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sterol metabolism disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hemochromatosis type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypoxanthine guanine phosphoribosyltransferase partial deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Crigler-Najjar syndrome type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Crigler-Najjar syndrome type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_galactokinase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_galactose epimerase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_classic galactosemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_biotinidase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_holocarboxylase synthetase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pyruvate dehydrogenase E1-alpha deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pyruvate dehydrogenase E2 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pyruvate dehydrogenase phosphatase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mild phenylketonuria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_GM1 gangliosidosis type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_GM1 gangliosidosis type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_GM1 gangliosidosis type 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_adult neuronal ceroid lipofuscinosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_infantile neuronal ceroid lipofuscinosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_juvenile neuronal ceroid lipofuscinosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Sanfilippo syndrome type A)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Sanfilippo syndrome type B)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Sanfilippo syndrome type C)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Sanfilippo syndrome type D)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary coproporphyria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_acute intermittent porphyria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_erythropoietic protoporphyria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_alpha-N-acetylgalactosaminidase deficiency type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_alpha-N-acetylgalactosaminidase deficiency type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_alpha-N-acetylgalactosaminidase deficiency type 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_diazoxide-resistant focal hyperinsulinism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hyperinsulinism due to glucokinase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_progressive familial intrahepatic cholestasis type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_progressive familial intrahepatic cholestasis type 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_progressive familial intrahepatic cholestasis type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_vitamin B12-unresponsive methylmalonic acidemia type mut-)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_L-2-hydroxyglutaric aciduria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_D-2-hydroxyglutaric aciduria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Phosphoenolpyruvate carboxykinase 1 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Phosphoenolpyruvate carboxykinase 2 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_PMM2-CDG)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_MPI-CDG)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ALG6-CDG)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ALG3-CDG)\n\nSubClassOf( owl:Thing)\n\n# Class: (DPM1-CDG)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_MPDU1-CDG)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ALG12-CDG)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ALG8-CDG)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ALG2-CDG)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ALG1-CDG)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ALG9-CDG)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_MGAT2-CDG)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_GCS1-CDG)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_B4GALT1-CDG)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_COG7-CDG)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant chondrodysplasia punctata)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Brachytelephalangic chondrodysplasia punctata)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_chondrodysplasia punctata, tibial-metacarpal type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_chondrodysplasia punctata, Toriello type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary palmoplantar keratoderma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_inherited epidermolysis bullosa)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_alopecia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypertrichosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syndromic hair shaft abnormality)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syndromic nail anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ectodermal dysplasia syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lymphedema)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Premature aging)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital non-bullous ichthyosiform erythroderma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Saethre-Chotzen syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_junctional epidermolysis bullosa inversa)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_late-onset junctional epidermolysis bullosa)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Severe generalized recessive dystrophic epidermolysis bullosa)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_recessive dystrophic epidermolysis bullosa inversa)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pretibial dystrophic epidermolysis bullosa)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_transient bullous dermolysis of the newborn)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_woolly hair nevus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Hermansky-Pudlak syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oculocutaneous albinism type 1A)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oculocutaneous albinism type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oculocutaneous albinism type 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oculocutaneous albinism type 1B)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oculocutaneous albinism type 4)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Pseudohypoparathyroidism type 1A)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pseudohypoparathyroidism type 1C)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pseudopseudohypoparathyroidism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked lethal multiple pterygium syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Non hereditary congenital primary lymphedema)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_follicular atrophoderma-basal cell carcinoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_atypical Werner syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_phakomatosis cesioflammea)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_phakomatosis cesiomarmorata)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_phakomatosis spilorosea)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pili gemini)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Brooke-Spiegler syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked congenital generalized hypertrichosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_DOORS syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_punctate palmoplantar keratoderma type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_punctate palmoplantar keratoderma type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ichthyosis hystrix of Curth-Macklin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ichthyosis hystrix gravior)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cholesterol-ester transfer protein deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Sandhoff disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive hyperinsulinism due to SUR1 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive hyperinsulinism due to Kir6.2 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mild hyperphenylalaninemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Gardner syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sarcoidosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Schinzel-Giedion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_schizencephaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_47,XYY syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Schwartz-Jampel syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tuberous sclerosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Scott syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Seckel syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Shwachman-Diamond syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Silver-Russell syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_peeling skin syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Smith-Lemli-Opitz syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Smith-Magenis syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Hereditary thrombophilia due to congenital antithrombin deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Sotos syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary spherocytosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated spina bifida)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Stargardt disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Stickler syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Antley-Bixler syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_succinyl-CoA:3-ketoacid CoA transferase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_encephalopathy due to sulfite oxidase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Proximal spinal muscular atrophy type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_free sialic acid storage disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_glomuvenous malformation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital primary aphakia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_CAMOS syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pelvis syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Leukoencephalopathy - metaphyseal chondrodysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_microcytic anemia with liver iron overload)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital nephrotic syndrome, Finnish type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Fanconi anemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Senior-Boichis syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_fibronectin glomerulopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary thermosensitive neuropathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_unknown leukodystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sebocystomatosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_desmin-related myopathy with Mallory body-like inclusions)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sporadic idiopathic steroid-resistant nephrotic syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Tay-Sachs disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Glanzmann thrombasthenia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital dyserythropoietic anemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Paris-Trousseau thrombocytopenia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial encephalopathy with neuroserpin inclusion bodies)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Bothnia retinal dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cystic leukoencephalopathy without megalencephaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_facial onset sensory and motor neuronopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_platyspondylic dysplasia, Torrance type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_craniofacial conodysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial digital arthropathy-brachydactyly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mesomelic dysplasia, Savarirayan type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_microcephalic osteodysplastic dysplasia, Saul-Wilson type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_IMAGe syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pseudodiastrophic dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Astley-Kendall dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_infantile osteopetrosis with neuroaxonal dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_craniometadiaphyseal dysplasia, wormian bone type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_metaphyseal dysplasia, Braun-Tinschert type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Singleton-Merten dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_idiopathic juvenile osteoporosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spondylo-ocular syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial expansile osteolysis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_genochondromatosis type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dysspondyloenchondromatosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ischio-vertebral syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_genitopatellar syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Keutel syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Fetal Gaucher disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syndromic X-linked intellectual disability 7)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked intellectual disability, Armfield type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked intellectual disability, Cantagrel type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Christianson syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_MEHMO syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked intellectual disability, Miles-Carpenter type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_BRESEK syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked intellectual disability, Schimke type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked intellectual disability, Stocco dos Santos type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked spinocerebellar ataxia type 4)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked intellectual disability, Cabezas type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked spinocerebellar ataxia type 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked intellectual disability, Pai type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked intellectual disability, Seemanova type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked intellectual disability, Stevenson type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked intellectual disability, Stoll type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked intellectual disability-retinitis pigmentosa syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked neurodegenerative syndrome, Bertini type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_fried syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked neurodegenerative syndrome, Hamel type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_AL amyloidosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Familial amyloid polyneuropathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ATTRV122I amyloidosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Townes-Brocks syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial abdominal aortic aneurysm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Treacher-Collins syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_DPAGT1-CDG)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial multiple trichoepithelioma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked severe congenital neutropenia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_patella aplasia/hypoplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive limb-girdle muscular dystrophy type 2K)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_helicoid peripapillary chorioretinal degeneration)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_benign adult familial myoclonic epilepsy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_aplasia of lacrimal and salivary glands)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital analbuminemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hemolytic anemia due to adenylate kinase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_atrichia with papular lesions)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial avascular necrosis of femoral head)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lissencephaly with cerebellar hypoplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypothalamic hamartomas with gelastic seizures)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_myoclonic epilepsy of infancy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_myoclonic epilepsy in non-progressive encephalopathies)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dermatopathia pigmentosa reticularis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary palmoplantar keratoderma, Gamborg-Nielsen type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_apert syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mal de Meleda)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Turner syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tetrasomy 12p)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Usher syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive non-syndromic intellectual disability)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial acute necrotizing encephalopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ichthyosis prematurity syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_myopathy due to calsequestrin and SERCA1 protein overload)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive ataxia, Beauce type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant progressive nephropathy with hypertension)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pseudohyperaldosteronism type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_amelogenesis imperfecta)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_VACTERL/vater association)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_van der Woude syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked Alport syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant Alport syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive Alport syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pseudohypoaldosteronism type 2A)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pseudohypoaldosteronism type 2B)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pseudohypoaldosteronism type 2C)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Autosomal dominant medullary cystic kidney disease without hyperuricemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_esophageal malformation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_von Hippel-Lindau disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_WAGR syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Waardenburg syndrome type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Waardenburg syndrome type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Waardenburg syndrome type 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Waardenburg-Shah syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Wagner disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syndromic lymphedema)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_epidermolysis bullosa simplex superficialis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_junctional epidermolysis bullosa, non-Herlitz type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_centripetalis recessive dystrophic epidermolysis bullosa)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_recessive dystrophic epidermolysis bullosa-generalized other)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dystrophic epidermolysis bullosa pruriginosa)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Walker-Warburg syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (X-linked hypophosphatemia)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_autosomal dominant hypophosphatemic rickets)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_infantile Bartter syndrome with sensorineural deafness)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tetrasomy X)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked cone dysfunction syndrome with myopia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primary immunodeficiency syndrome due to p14 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_deafness with labyrinthine aplasia, microtia, and microdontia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syndactyly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primary erythermalgia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hemolytic anemia due to glutathione reductase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_non-spherocytic hemolytic anemia due to hexokinase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hemoglobin D disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Primary familial polycythemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial pseudohyperkalemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary folate malabsorption)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant intermediate Charcot-Marie-Tooth disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary motor and sensory neuropathy, Okinawa type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_severe early-onset axonal neuropathy due to MFN2 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary motor and sensory neuropathy type 6)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mandibuloacral dysplasia with type A lipodystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mandibuloacral dysplasia with type B lipodystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Werner syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_chilblain lupus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Parkes Weber syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Cockayne syndrome type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Cockayne syndrome type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Cockayne syndrome type 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Rosselli-Gulienetti syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Blau syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant cutis laxa)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive cutis laxa type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive cutis laxa type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_brittle cornea syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primary intestinal lymphangiectasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypotrichosis simplex of the scalp)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Williams syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Wilson disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Wiskott-Aldrich syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked non-syndromic sensorineural deafness type DFN)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Autosomal dominant non-syndromic sensorineural deafness type DFNA)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Autosomal recessive non-syndromic sensorineural deafness type DFNB)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Jervell and Lange-Nielsen syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_otopalatodigital syndrome type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_otopalatodigital syndrome type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Stickler syndrome type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Stickler syndrome type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Charcot-Marie-Tooth disease type 1E)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypothyroidism due to TSH receptor mutations)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated thyroid-stimulating hormone deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_panhypopituitarism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_46,XX disorder of sex development induced by fetal androgens excess)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital lipoid adrenal hyperplasia due to STAR deficency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial androgen insensitivity syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_fragile X syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cerebrotendinous xanthomatosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primary lipodystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_aromatase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_xeroderma pigmentosum)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Autosomal recessive axonal Charcot-Marie-Tooth disease type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (Other metabolic disease)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_combined immunodeficiency due to ZAP70 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_DK1-CDG)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_duplication of the esophagus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital esophageal diverticulum)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary angioedema)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial thoracic aortic aneurysm and aortic dissection)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated cryptophthalmia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated ankyloblepharon filiforme adnatum)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital Horner syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Familial capillary hemangioma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated congenital alacrima)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Rieger anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated congenital megalocornea)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital ectropion uveae)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Non-syndromic congenital cataract)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_persistent hyperplastic primary vitreous)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_snowflake vitreoretinal degeneration)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial congenital palsy of trochlear nerve)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Aarskog-Scott syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Aase-Smith syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ablepharon macrostomia syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Abruzzo-Erickson syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Acatalasemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_aspartylglucosaminuria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_renal hypoplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_renal dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_posterior urethral valve)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_renal cysts and diabetes syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (Hypocalcemic vitamin D-resistant rickets)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_achondrogenesis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial idiopathic steroid-resistant nephrotic syndrome with minimal changes)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_fragile X-associated tremor/ataxia syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Pfeiffer syndrome type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Pfeiffer syndrome type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Pfeiffer syndrome type 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_short rib-polydactyly syndrome, Majewski type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Short rib-polydactyly syndrome, Saldino-Noonan type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_thanatophoric dysplasia type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_polyostotic fibrous dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_monostotic fibrous dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spondyloepiphyseal dysplasia, Kimberley type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spondyloepiphyseal dysplasia tarda)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypochondrogenesis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Brachyolmia type 1, Hobaek type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_brachyolmia, Maroteaux type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Brachyolmia type 1, Toledo type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant brachyolmia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_multiple epiphyseal dysplasia type 4)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_multiple epiphyseal dysplasia type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_multiple epiphyseal dysplasia type 5)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spondylometaphyseal dysplasia, Kozlowski type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spondylometaphyseal dysplasia, 'corner fracture' type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spondylometaphyseal dysplasia, Schmidt type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spondylometaphyseal dysplasia, Sedaghatian type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ulnar hemimelia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_radial hemimelia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tibial hemimelia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_fibular hemimelia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive Kenny-Caffey syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant Kenny-Caffey syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant omodysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive omodysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pelviscapular dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_postaxial polydactyly type A)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_postaxial polydactyly type B)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_polydactyly of a triphalangeal thumb)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_polydactyly of an index finger)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_polydactyly of a biphalangeal thumb)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_anauxetic dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked spondyloepimetaphyseal dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spondyloepimetaphyseal dysplasia, Irapa type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spondyloepimetaphyseal dysplasia, Shohat type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spondyloepimetaphyseal dysplasia, Missouri type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spondyloepimetaphyseal dysplasia with joint laxity)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spondyloepimetaphyseal dysplasia with multiple dislocations)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_brachydactyly type B)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_brachydactyly type C)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_brachydactyly type E)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_brachydactyly type A1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_brachydactyly type A5)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_brachydactyly type A4)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Ballard syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_brachydactyly type A2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_brachydactyly type A7)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_genochondromatosis type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syndactyly type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syndactyly type 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syndactyly type 4)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syndactyly type 5)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Brachydactyly-syndactyly, Zhao type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_FGFR3-related chondrodysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_type 11 collagen-related bone disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sulfation-related bone disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_perlecan-related bone disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_filamin-related bone disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_short rib dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_multiple epiphyseal dysplasia and pseudoachondroplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_multiple metaphyseal dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spondylodysplastic dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_acromelic dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_acromesomelic dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mesomelic and rhizo-mesomelic dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bent bone dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_slender bone dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primary bone dysplasia with multiple joint dislocations)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_chondrodysplasia punctata)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neonatal osteosclerotic dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primary bone dysplasia with increased bone density)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lysosomal storage disease with skeletal involvement)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primary osteolysis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primary bone dysplasia with disorganized development of skeletal components)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dysostosis with predominant craniofacial involvement)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_patellar dysostosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_non-syndromic limb reduction defect)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_non-syndromic polydactyly, syndactyly and/or hyperphalangy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syndrome with synostosis or other joint formation defect)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_overgrowth syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lethal chondrodysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Hurler syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Scheie syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Hurler-Scheie syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_short-limb skeletal dysplasia with severe combined immunodeficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syndromic renal or urinary tract malformation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dense deposit disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_atypical hemolytic-uremic syndrome with C3 anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_atypical hemolytic-uremic syndrome with MCP/CD46 anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_atypical hemolytic-uremic syndrome with B factor anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_atypical hemolytic-uremic syndrome with H factor anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_atypical hemolytic-uremic syndrome with I factor anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_atypical hemolytic-uremic syndrome with anti-factor H antibodies)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial cystic renal disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_late-onset nephronophthisis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_nephropathy secondary to a storage or other metabolic disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primary hyperoxaluria type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primary hyperoxaluria type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primary hyperoxaluria type 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_xanthinuria type I)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_xanthinuria type II)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Antenatal Bartter syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Classic Bartter syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_nephrogenic syndrome of inappropriate antidiuresis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive proximal renal tubular acidosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant distal renal tubular acidosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cystinuria type A)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cystinuria type B)\n\nSubClassOf( owl:Thing)\n\n# Class: (Hematological disorder with renal involvement)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_hemoglobin H disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Dent disease type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Dent disease type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_3-hydroxyisobutyric aciduria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neurofibromatosis type 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lobar holoprosencephaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_alobar holoprosencephaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_midline interhemispheric variant of holoprosencephaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_epispadias)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cloacal exstrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bladder exstrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_terminal transverse defects of arm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked intellectual disability, Porteous type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hamel cerebro-palato-cardiac syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked intellectual disability, Golabi-Ito-hall type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked intellectual disability, Sutherland-Haan type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oromandibular dystonia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Laryngeal dyskinesia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Autosomal dominant cervical dystonia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Autosomal dominant focal dystonia, DYT7 type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_myelomeningocele)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Holmes-Gang syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Chudley-Lowry-Hoar syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Juberg-Marsidi syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Carpenter-Waziri syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Smith-Fineman-Myers syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Renier-Gabreels-Jasper syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_anotia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_humero-ulnar synostosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_12q14 microdeletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_deafness-infertility syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spondyloepiphyseal dysplasia congenita)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Partington syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_blue diaper syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary renal hypouricemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pseudohypoparathyroidism type 1B)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pseudohypoparathyroidism type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_D-glyceric aciduria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_recessive mitochondrial ataxia syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinocerebellar ataxia type 7)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_malonic aciduria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_acrocephalosyndactyly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_acrocraniofacial dysostosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Friedreich ataxia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_acrodysostosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hepatoerythropoietic porphyria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_chronic hepatic porphyria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_acrofacial dysostosis, Weyers type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lissencephaly due to LIS1 mutation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_COG8-CDG)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_angioma serpiginosum)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_non-acquired pituitary hormone deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pituitary stalk interruption syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_acroosteolysis dominant type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_acropectorovertebral dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial adrenal hypoplasia with absent pituitary luteinizing hormone)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_thyroid ectopia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_athyreosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial thyroid dyshormonogenesis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_thyroid hemiagenesis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_thyroid hypoplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_acro-renal-mandibular syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Acro-renal-ocular syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tetrasomy 21)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mosaic trisomy 4)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mosaic trisomy 5)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mosaic trisomy 8)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mosaic trisomy 10)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mosaic trisomy 22)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal trisomy 1p36)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal trisomy 2p)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal trisomy 3p)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_4p16.3 microduplication syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal trisomy 7p)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Beckwith-Wiedemann syndrome due to 11p15 microduplication)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_8p inverted duplication/deletion syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal trisomy 2q)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_3q26 microduplication syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal trisomy 4q)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal trisomy 5q)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal trisomy 6q)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal trisomy 8q)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal trisomy 9q)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal trisomy 10q)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal trisomy 11q)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal trisomy 13q)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal trisomy 16q)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal trisomy 20q)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal trisomy 22q)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_non-distal trisomy 9q)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_7q11.23 microduplication syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_monosomy 22)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Distal monosomy 6p)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal monosomy 7p)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal monosomy 19p13.3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal monosomy 4q)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Kleefstra syndrome due to 9q34 microdeletion)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Distal monosomy 10q)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal monosomy 12q)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal monosomy 14q)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal monosomy 20q)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_non-distal monosomy 12q)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_non-distal monosomy 20q)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_recombinant 8 syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_monosomy 13q34)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Koolen-de Vries syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Emanuel syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ring chromosome 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ring chromosome 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ring chromosome 9)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ring chromosome 11)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ring chromosome 13)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ring chromosome 15)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ring chromosome 16)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_maternal uniparental disomy of chromosome 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_maternal uniparental disomy of chromosome 4)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_maternal uniparental disomy of chromosome 6)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_silver-Russell syndrome due to maternal uniparental disomy of chromosome 7)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_maternal uniparental disomy of chromosome 9)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_maternal uniparental disomy of chromosome 14)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_maternal uniparental disomy of chromosome 16)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_maternal uniparental disomy of chromosome 20)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_maternal uniparental disomy of chromosome 21)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_maternal uniparental disomy of chromosome 22)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_paternal uniparental disomy of chromosome 5)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_paternal uniparental disomy of chromosome 6)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_paternal uniparental disomy of chromosome 7)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_paternal uniparental disomy of chromosome 20)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_paternal uniparental disomy of chromosome 21)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X small rings)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_48,XXXY syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_49,XXXXY syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Leydig cell hypoplasia due to complete LH resistance)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Leydig cell hypoplasia due to partial LH resistance)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_polyploidy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isochromosome Y)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_paternal uniparental disomy of chromosome 14)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_anorectal malformation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_acromegaloid facial appearance syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hypertrichosis-acromegaloid facial appearance syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_acromicric dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary sensory and autonomic neuropathy type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_acrorenal syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_distal arthrogryposis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary continuous muscle fiber activity)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_riboflavin transporter deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ligneous conjunctivitis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_fingerprint body myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_glycogen storage disease due to phosphoglycerate mutase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_rippling muscle disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_reducing body myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_zebra body myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital muscular dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_rigid spine syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pontocerebellar hypoplasia type 3)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Carney-Stratakis syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial papillary thyroid carcinoma with renal papillary neoplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Bohring-Opitz syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital absence/hypoplasia of fingers excluding thumb, unilateral)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Hunter-McAlpine craniosynostosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Familial dementia, British type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Familial dementia, Danish type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Robinow syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_unilateral multicystic dysplastic kidney)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bilateral multicystic dysplastic kidney)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_renal tubular dysgenesis of genetic origin)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Adams-Oliver syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pseudohypoparathyroidism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_adenine phosphoribosyltransferase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_maternal uniparental disomy of chromosome 13)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_adrenomyodystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ADULT syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_peripheral resistance to thyroid hormones)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_gastroduodenal malformation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_intestinal malformation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive congenital cerebellar ataxia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive metabolic cerebellar ataxia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive degenerative and progressive cerebellar ataxia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive syndromic cerebellar ataxia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_gonosome anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_combined dystonia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Ehlers-Danlos syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neonatal epilepsy syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_infantile epilepsy syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_childhood-onset epilepsy syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_adolescent-onset epilepsy syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_genetic non-syndromic obesity)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_genetic lipodystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial partial lipodystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant isolated diffuse palmoplantar keratoderma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive isolated diffuse palmoplantar keratoderma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hereditary stomatocytosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_vitamin B12- and folate-independent constitutional megaloblastic anemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_secondary polycythemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_alpha granule disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dense granule disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked syndromic intellectual disability)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_muscular dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_metabolic myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_genetic peripheral neuropathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cranial nerve and nuclear aplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_major induction processes eye anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Anophthalmia - microphthalmia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syndromic aniridia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Rare eye disease due to a differentiation anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cryptophthalmia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_eyelid border anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syndromic ankyloblepharon)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syndromic palpebral coloboma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_eyelids malposition disorder)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital entropion)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_secondary entropion)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital ectropion)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_secondary ectropion)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_canthal anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_epicanthal fold)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syndromic epicanthus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_telecanthus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_malposition of external canthus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ptosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_precancerous lesion of palpebral epidermis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_malignant tumor of palpebral epidermis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_palpebral sebaceous gland tumor)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pigmented palpebral tumor)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_palpebral lentiginosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_palpebral nevus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_palpebral piliary tumor)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mesenchymatous palpebral tumor)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neurogenic palpebral tumor)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_secretory apparatus of the lacrimal system anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital alacrima)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_excretory apparatus of the lacrimal system anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syndromic orbital border hypoplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_anomaly of the secretory and excretory apparatus of the lacrimal system)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_EEC syndrome and related syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pigmented conjunctival lesion)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_conjunctival tumor)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bulbar conjunctival dermoid or conjunctival dermolipoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syndromic myopia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syndromic hyperopia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syndromic keratoconus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_superficial corneal dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_stromal corneal dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_posterior corneal dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syndromic corneal dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_secondary dysgenetic glaucoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_iridogoniodysgenesis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_corneogoniodysgenesis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syndromic cataract)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lens size anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lens position anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lens shape anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_syndromic retinitis pigmentosa)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_genetic macular dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Colobomatous and areolar dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_disease predisposing to age-related macular degeneration)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital vitreoretinal dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_vitreoretinal degeneration)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant optic atrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive optic atrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Autosomal recessive syndromic optic atrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked recessive optic atrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_essential strabismus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital trochlear nerve palsy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_supranuclear oculomotor palsy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Abnormal eye movements)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Nervous system anomaly with eye involvement)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Syndromic ichthyosis associated with ocular features)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oculocutaneous or ocular albinism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital anomaly of the great arteries)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Noonan syndrome and Noonan-related syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinocerebellar ataxia type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinocerebellar ataxia type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinocerebellar ataxia type 6)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinocerebellar ataxia type 17)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinocerebellar ataxia type 8)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinocerebellar ataxia type 10)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinocerebellar ataxia type 12)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinocerebellar ataxia type 14)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinocerebellar ataxia type 27)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinocerebellar ataxia type 4)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinocerebellar ataxia type 5)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinocerebellar ataxia type 11)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinocerebellar ataxia type 13)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinocerebellar ataxia type 15/16)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinocerebellar ataxia type 18)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinocerebellar ataxia type 19/22)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spinocerebellar ataxia type 21)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant nocturnal frontal lobe epilepsy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Prader-Willi syndrome due to paternal 15q11q13 deletion)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Angelman syndrome due to maternal 15q11q13 deletion)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Angelman syndrome due to paternal uniparental disomy of chromosome 15)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isochromosomy Yp)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isochromosomy Yq)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Autosomal dominant dopa-responsive dystonia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Paroxysmal kinesigenic dyskinesia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Paroxysmal non-kinesigenic dyskinesia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_benign childhood occipital epilepsy, Panayiotopoulos type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_benign childhood occipital epilepsy, Gastaut type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Familial temporal epilepsy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial focal epilepsy with variable foci)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant Emery-Dreifuss muscular dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal recessive Emery-Dreifuss muscular dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Charcot-Marie-Tooth disease type 2B1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked Emery-Dreifuss muscular dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_southeast Asian ovalocytosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (Congenital dyserythropoietic anemia type II)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_hemophilia A)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hemophilia B)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial dysfibrinogenemia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Bleeding diathesis due to integrin alpha2-beta1 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_X-linked complex spastic paraplegia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_bilateral perisylvian polymicrogyria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_periventricular nodular heterotopia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Becker muscular dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Duchenne muscular dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Oculopharyngodistal myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital myopathy with excess of thin filaments)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital multicore myopathy with external ophthalmoplegia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Dorfman-Chanarin disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_neutral lipid storage myopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_alpha-crystallinopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Huntington disease-like 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Colobomatous microphthalmia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_von Hippel anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_coloboma of choroid and retina)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_coloboma of eye lens)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_coloboma of iris)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_coloboma of macula)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_coloboma of eyelid)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital symblepharon)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_complete cryptophthalmia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_partial cryptophthalmia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_inverse Marcus-Gunn phenomenon)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Meesmann corneal dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Lisch epithelial corneal dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_gelatinous drop-like corneal dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_honey-droplet corneal dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_subepithelial mucinous corneal dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Thiel-Behnke corneal dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_granular corneal dystrophy type I)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_granular corneal dystrophy type II)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_lattice corneal dystrophy type I)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Schnyder corneal dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_macular corneal dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_fleck corneal dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_posterior amorphous corneal dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_posterior polymorphous corneal dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital hereditary endothelial dystrophy type I)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital glaucoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Axenfeld anomaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Chandler syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Cogan-Reese syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_essential iris atrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Congenital cataract, Volkmann type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_pulverulent cataract)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Coppock-like cataract)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Cataract, Hutterite type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cerulean cataract)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_coralliform cataract)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Nuclear cataract)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Zonular cataract)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant cerebellar ataxia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_adult-onset foveomacular vitelliform dystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_reticular dystrophy of the retinal pigment epithelium)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_multifocal pattern dystrophy simulating fundus flavimaculatus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_fundus pulverulentus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Autosomal recessive optic atrophy, OPA6 type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Niemann-Pick disease type E)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenitally uncorrected transposition of the great arteries with coarctation)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Double outlet right ventricle, Fallot type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_double outlet right ventricle with subpulmonary ventricular septal defect)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_double outlet right ventricle with non-committed subpulmonary ventricular septal defect)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_interventricular septum aneurysm)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Laubry-Pezzi syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_PAGOD syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_atrial septal defect, ostium secundum type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_atrial septal defect, coronary sinus type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_atrial septal defect, sinus venosus type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_atrial septal defect, ostium primum type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_6-phosphogluconate dehydrogenase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hemolytic anemia due to erythrocyte adenosine deaminase overproduction)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_epiblepharon)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_tarsal kink syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated congenital ectropion)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_euryblepharon)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_congenital eyelid retraction)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Kandori fleck retina)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_monosomy X)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mosaic monosomy X)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_paternal uniparental disomy of chromosome 13)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_48,XYYY syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_49,XYYYY syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial medullary thyroid carcinoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_fetal akinesia deformation sequence)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Turner syndrome due to structural X chromosome anomalies)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_complete androgen insensitivity syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_spondyloepimetaphyseal dysplasia, Handigodu type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dappled diaphyseal dysplasia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_cheirospondyloenchondromatosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Primary dystonia, DYT2 type)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Fried's tooth and nail syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dermotrichic syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mesial temporal lobe epilepsy with hippocampal sclerosis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_progeria-associated arthropathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Leber plus disease)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_isolated sulfite oxidase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_sulfite oxidase deficiency due to molybdenum cofactor deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_myotonia fluctuans)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_myotonia permanens)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_acetazolamide-responsive myotonia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_King-Denborough syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Amish lethal microcephaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Kostmann syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (Atypical progressive supranuclear palsy)\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: (obsolete_familial hyperreninemic hypoaldosteronism type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial hyperreninemic hypoaldosteronism type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mosaic trisomy 9)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dentin dysplasia type I)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_dentin dysplasia type II)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_subcortical band heterotopia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_anodontia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Oligodontia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_hemimegalencephaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Haddad syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_oculootodental syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial porencephaly)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Turcot syndrome with polyposis)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial gestational hyperthyroidism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_resistance to thyrotropin-releasing hormone syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_leukocyte adhesion deficiency type II)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_genetic recurrent myoglobinuria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant myoglobinuria)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_glycogen storage disease due to muscle beta-enolase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ravine syndrome)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ovarioleukodystrophy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Cree leukoencephalopathy)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_primary syringomyelia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_idiopathic syringomyelia)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Ehlers-Danlos syndrome type 7A)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Ehlers-Danlos syndrome type 7B)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial parathyroid adenoma)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_familial isolated hyperparathyroidism)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Permanent neonatal diabetes mellitus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_transient neonatal diabetes mellitus)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_ermine phenotype)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_long chain acyl-CoA dehydrogenase deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_acyl-CoA dehydrogenase 9 deficiency)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Autosomal dominant Charcot-Marie-Tooth disease type 2G)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_autosomal dominant Charcot-Marie-Tooth disease type 2K)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Charcot-Marie-Tooth disease type 4A)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Charcot-Marie-Tooth disease type 4C)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Charcot-Marie-Tooth disease type 4D)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Charcot-Marie-Tooth disease type 4E)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Charcot-Marie-Tooth disease type 4F)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Charcot-Marie-Tooth disease type 4G)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Charcot-Marie-Tooth disease type 4H)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Charcot-Marie-Tooth disease type 4B1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_Charcot-Marie-Tooth disease type 4B2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_benign recurrent intrahepatic cholestasis type 1)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_benign recurrent intrahepatic cholestasis type 2)\n\nSubClassOf( owl:Thing)\n\n# Class: (obsolete_intermediate DEND syndrome)\n\nSubClassOf( owl:Thing)\n\n\nEquivalentClasses(ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )) ObjectSomeValuesFrom( ))\nSubClassOf(ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\nSubClassOf(ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\nSubClassOf(ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\nSubClassOf(ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\nSubClassOf(ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\nSubClassOf(ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\nSubClassOf(ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\nSubClassOf(ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\nSubClassOf(ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\nDisjointClasses(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))\nDisjointClasses(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))\nDisjointClasses(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))\nDisjointClasses(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))\nDisjointClasses(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))\nDisjointClasses(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))\nDisjointClasses(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))\nDisjointClasses(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))\nDisjointClasses(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))\nDisjointClasses(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))\nDisjointClasses(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))\nDisjointClasses(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))\nDisjointClasses(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))\nDisjointClasses(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))\nDisjointClasses(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))\nDisjointClasses(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))\nDisjointClasses(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))\nDisjointClasses(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))\nDisjointClasses(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))\nDisjointClasses(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))\nDisjointClasses(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))\nDisjointClasses(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))\nDisjointClasses(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))\nDisjointClasses(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))\nDisjointClasses(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))\nDisjointClasses(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))\nDisjointClasses(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))\nDisjointClasses(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))\nDisjointClasses(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))\nDisjointClasses(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))\nDisjointClasses(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))\nDisjointClasses(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))\nDisjointClasses(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))\nAnnotationAssertion( \"\")\nAnnotationAssertion( \"dubious_for_taxon\")\nAnnotationAssertion( \"fma_set_term\")\nAnnotationAssertion(rdfs:comment \"\")\nAnnotationAssertion( \"\")\nAnnotationAssertion( \"\")\n) [Term] id: BAO_0000875 name: Cyclic adenosine monophosphate is_a: CHEBI:24431 ! chemical entity [Term] id: BAO_0000925 name: Glucose-6-phosphate is_a: CHEBI:24431 ! chemical entity [Term] id: BFO:0000015 name: process alt_id: http://www.ifomis.org/bfo/1.1/span#ProcessualEntity def: "A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." [] xref: NCIt:C29862 xref: SNOMEDCT:415178003 is_a: EFO:0000001 ! experimental factor property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001433 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string property_value: source:definition "An occurrent [span:Occurrent] that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity." xsd:string [Term] id: BFO:0000016 name: disposition alt_id: http://www.ifomis.org/bfo/1.1/snap#Disposition def: "A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." [] xref: NCIt:C41205 is_a: BFO:0000020 ! material property property_value: ArrayExpress:label "disease property" xsd:string property_value: branch:class "true" xsd:string property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001438 xsd:string property_value: IAO:0000112 "For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." xsd:string property_value: IAO:0000117 "James Malone modified from original" xsd:string property_value: source:definition "A realizable entity [snap:RealizableEntity] that essentially causes a specific process or transformation in the object [snap:Object] in which it inheres, under specific circumstances and in conjunction with the laws of nature. A general formula for dispositions is: X (object [snap:Object] has the disposition D to (transform, initiate a process) R under conditions C." xsd:string [Term] id: BFO:0000019 name: quality alt_id: http://www.ifomis.org/bfo/1.1/snap#Quality def: "A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" [] xref: NCIt:C25283 xref: SNOMEDCT:263496004 is_a: BFO:0000020 ! material property property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001436 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string property_value: source:definition "A specifically dependent continuant [snap:SpecificallyDependentContinuant] that is exhibited if it inheres in an entity or entities at all (a categorical property)." xsd:string [Term] id: BFO:0000020 name: material property alt_id: http://www.ifomis.org/bfo/1.1/snap#SpecificallyDependentContinuant def: "An experimental factor which is a property or characteristic of some other entity. For example, the mouse has the colour white." [] synonym: "specifically dependent continuant" EXACT [] synonym: "SpecificallyDependentContinuant" EXACT [] xref: BFO:0000020 is_a: EFO:0000001 ! experimental factor property_value: ArrayExpress:label "sample characteristic" xsd:string property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001443 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: organizational:class "true" xsd:string property_value: source:definition "A continuant [snap:Continuant] that inheres in or is borne by other entities. Every instance of A requires some specific instance of B which must always be the same." xsd:string [Term] id: BFO:0000023 name: role alt_id: http://www.ifomis.org/bfo/1.1/snap#Role def: "A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role). For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." [] xref: MeSH:D012380 xref: NCIt:C48835 is_a: BFO:0000020 ! material property property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001440 xsd:string property_value: IAO:0000112 "For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string property_value: source:definition "A realizable entity [snap:RealizableEntity] the manifestation of which brings about some result or end that is not essential to a continuant [snap:Continuant] in virtue of the kind of thing that it is but that can be served or participated in by that kind of continuant [snap:Continuant] in some kinds of natural, social or institutional contexts." xsd:string [Term] id: BFO:0000029 name: site alt_id: http://www.ifomis.org/bfo/1.1/snap#Site def: "A site is an entity which consists of a characteristic spatial shape in relation to some arrangement of other material entities." [] xref: NCIt:C37901 xref: SNOMEDCT:10546003 is_a: EFO:0000001 ! experimental factor property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001437 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string property_value: source:definition "An independent continuant [snap:IndependentContinuant] consisting of a characteristic spatial shape in relation to some arrangement of other continuant [snap:Continuant] entities and of the medium which is enclosed in whole or in part by this characteristic spatial shape. Site [snap:Site] entities are entities that can be occupied by other continuant [snap:Continuant] entities." xsd:string [Term] id: BFO:0000034 name: function alt_id: http://www.ifomis.org/bfo/1.1/snap#Function def: "A function is an entity which is an essentially end-directed activity of a material entity in virtue of that entity being a specific kind of entity in the kind or kinds of contexts that it is made for. For example," [] xref: BFO:function xref: NCIt:C25518 xref: SNOMEDCT:246464006 xref: SNOMEDCT:277064003 is_a: BFO:0000020 ! material property property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001441 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string property_value: source:definition "A realizable entity [snap:RealizableEntity] the manifestation of which is an essentially end-directed activity of a continuant [snap:Continuant] entity in virtue of that continuant [snap:Continuant] entity being a specific kind of entity in the kind or kinds of contexts that it is made for." xsd:string [Term] id: BFO:0000040 name: material entity alt_id: http://www.ifomis.org/bfo/1.1/snap#MaterialEntity def: "A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." [] synonym: "material type" EXACT [] is_a: EFO:0000001 ! experimental factor property_value: ArrayExpress:label "sample factor" xsd:string property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001434 xsd:string property_value: IAO:0000112 "A heart, a human, a fly, a microarray." xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string property_value: source:definition "An independent continuant [snap:IndependentContinuant] that is spatially extended whose identity is independent of that of other entities and can be maintained through time. Note: Material entity [snap:MaterialEntity] subsumes object [snap:Object], fiat object part [snap:FiatObjectPart], and object aggregate [snap:ObjectAggregate], which assume a three level theory of granularity, which is inadequate for some domains, such as biology." xsd:string [Term] id: BTO:0000007 name: HEK-293 cell namespace: BrendaTissueOBO def: "\nEstablished from a human primary embryonal kidney transformed by adenovirus type 5.\n" [] synonym: "293 cell" RELATED [] synonym: "A-293 cell" RELATED [] synonym: "A293 cell" RELATED [] synonym: "HEK cell" RELATED [] synonym: "HEK293 cell" RELATED [] synonym: "human embryonal kidney cell" RELATED [] synonym: "human embryonic kidney cell" RELATED [] is_a: EFO:0001643 ! kidney derived cell line is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl [Term] id: BTO:0000018 name: A-549 cell namespace: BrendaTissueOBO def: "\nHuman lung carcinoma established from an explanted lung tumor which was removed from a 58-year-old Caucasian man in 1972; cells were described to induce tumors in athymic mice and to synthesize lecithin.\n" [] synonym: "A549 cell" RELATED [] synonym: "NCI-A549 cell" RELATED [] is_a: EFO:0002934 ! lung cancer cell line property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl [Term] id: BTO:0000133 name: blood serum def: "The cell-free portion of the blood from which the fibrinogen has been separated in the process of clotting." [] is_a: EFO:0001941 ! blood component relationship: part_of UBERON:0001969 ! blood plasma [Term] id: BTO:0000152 name: infected cell namespace: BrendaTissueOBO is_a: EFO:0000324 ! cell type property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl [Term] id: BTO:0000155 name: bronchoalveolar lavage def: "the collection of bronchoalveolar lavage fluid (BAL) from the lungs" [] xref: MeSH:D018893 xref: NCIt:C51913 xref: SNOMEDCT:397394009 is_a: OBI:0600044 ! lavage [Term] id: BTO:0000164 name: Burkitt lymphoma cell namespace: BrendaTissueOBO def: "Malignant tumour cell of lymphoblasts derived from B-lymphocytes. Most commonly affects children in tropical Africa: both Epstein-Barr virus and immunosuppression due to malarial infection are involved." [] synonym: "African lymphoma cell" RELATED [] synonym: "Burkitt's lymphoma cell" RELATED [] synonym: "Burkitts lymphoma cell" RELATED [] is_a: EFO:0002937 ! lymphoma or leukaemia cell line intersection_of: CL:0000010 ! cultured cell intersection_of: has_characteristic EFO:0000309 ! Burkitts lymphoma relationship: has_characteristic EFO:0000309 ! Burkitts lymphoma property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl [Term] id: BTO:0000214 name: cell culture def: "Cells taken from a living organism and grown under controlled conditions (in culture). Methods used to maintain cell lines or strains." [] xref: NCIt:C16396 is_a: BFO:0000040 ! material entity property_value: definition:citation http://purl.obolibrary.org/obo/OBI_0100060 xsd:string [Term] id: BTO:0000221 name: cell suspension culture def: "Particles floating in (not necessarily on) a liquid medium, or the mix of particles and liquid itself." [] is_a: BTO:0000214 ! cell culture is_a: EFO:0000523 ! growth condition property_value: definition:citation http://purl.obolibrary.org/obo/CLO_0000029 xsd:string [Term] id: BTO:0000238 name: cerebrovascular endothelial cell namespace: BrendaTissueOBO def: "\nEndothelial cell of or involving the cerebrum and the blood vessels supplying it.\n" [] is_a: CL:0000115 ! endothelial cell property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl [Term] id: BTO:0000256 name: myoblast cell line def: "Cell lines derived from myoblast cells" [] is_a: CL:0000010 ! cultured cell relationship: RO:0001000 CL:0000056 ! derives_from myoblast property_value: http://purl.obolibrary.org/obo/namespace "BrendaTissueOBO" xsd:string [Term] id: BTO:0000281 name: conidiophore namespace: BrendaTissueOBO def: "A specialized fungal hypha that produces conidia." [] is_a: EFO:0000788 ! fungal component property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl [Term] id: BTO:0000305 name: crypt namespace: BrendaTissueOBO def: "\nA crypt is a deep pit that protrudes down into the connective tissue surrounding the small intestine. The epithelium at the base of the crypt is the site of stem cell proliferation and the differentiated cells move upwards and are shed 3-5 days later at the tips of the villi.\n" [] xref: NCIt:C61551 is_a: UBERON:0000061 ! anatomical structure property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl [Term] id: BTO:0000332 name: culture condition:dark-grown cell is_a: EFO:0000523 ! growth condition equivalent_to: EFO:0007589 ! etiolation [Term] id: BTO:0000377 name: elementary body namespace: BrendaTissueOBO def: "\nThe infectious form of chlamydiaceae. Infection occurs when the small, rigid-walled extracellular form (elementary body) enters the cell and changes into a larger, thin-walled form (initial body) that divides by fission. The daughter cells thus formed reorganize and condense to become elementary bodies that then infect other cells. The organisms are parasites of humans and other vertebrates, capable of producing a variety of diseases. They have also been found in arthropods. The family contains the genus Chlamydia.\n" [] is_a: UBERON:0000061 ! anatomical structure property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl [Term] id: BTO:0000381 name: embryonic blood namespace: BrendaTissueOBO is_a: UBERON:0000061 ! anatomical structure property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl [Term] id: BTO:0000383 name: renal cell carcinoma cell line synonym: "hypernephroma cell line" EXACT [] synonym: "kidney adenocarcinoma cell line" EXACT [] synonym: "RCC cell line" EXACT [] synonym: "renal cell adenocarcinoma cell line" EXACT [] is_a: EFO:0001639 ! cancer cell line [Term] id: BTO:0000407 name: osteosarcoma cell line namespace: BrendaTissueOBO def: "\nCell line of a malignant neoplasm of the bone-forming tissues.\n" [] synonym: "osteoblastic sarcoma cell line" RELATED [] synonym: "osteogenic sarcoma cell line" RELATED [] is_a: EFO:0001639 ! cancer cell line intersection_of: CL:0000010 ! cultured cell intersection_of: has_characteristic EFO:0000637 ! osteosarcoma property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl [Term] id: BTO:0000426 name: erythroleukemia cell namespace: BrendaTissueOBO def: "\nCancer cell of the blood-forming tissues in which large numbers of immature, abnormal red blood cells are found in the blood and bone marrow.\n" [] is_a: EFO:0005934 ! disease cell type property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl [Term] id: BTO:0000488 name: lower epidermis namespace: BrendaTissueOBO def: "\nThe epidermal layer directed away or outwards from the axis.\n" [] synonym: "abaxial epidermis" RELATED [] is_a: UBERON:0000061 ! anatomical structure property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl [Term] id: BTO:0000515 name: haustorium namespace: BrendaTissueOBO def: "\nA food-absorbing outgrowth of a plant organ (as a hypha or stem).\n" [] is_a: EFO:0000788 ! fungal component property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl [Term] id: BTO:0000551 name: lung cancer cell def: "Cancer cell of the major organ of respiration the lung." [] synonym: "lung carcinoma cell" EXACT [] is_a: EFO:0000324 ! cell type relationship: develops_from UBERON:0002048 ! lung [Term] id: BTO:0000583 name: bone marrow cancer cell namespace: BrendaTissueOBO is_a: CL:0000988 ! hematopoietic cell is_a: EFO:0005934 ! disease cell type relationship: located_in UBERON:0002390 ! hematopoietic system property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl [Term] id: BTO:0000664 name: obsolete_K-562 cell namespace: BrendaTissueOBO def: "\nHuman chronic myeloid leukemia in blast crisis established from the pleural effusion of a 53-year-old woman with chronic myeloid leukemia (CML) in blast crisis in 1970; cells can be used as highly sensitive targets in in-vitro natural killer assays; cells produce hemoglobin; cells carry the Philadelphia chromosome with a b3-a2 fusion gene.\n" [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.44" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate with class K562 http://www.ebi.ac.uk/efo/EFO_0002067" xsd:string property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0002067 [Term] id: BTO:0000690 name: brain cancer cell line namespace: BrendaTissueOBO synonym: "brain tumor cell line" RELATED [] is_a: EFO:0001639 ! cancer cell line property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl [Term] id: BTO:0000740 name: myeloid leukemia cell line namespace: BrendaTissueOBO def: "\nA cell line of leukemia characterized by proliferation of myeloid tissue (as of the bone marrow and spleen) and an abnormal increase in the number of granulocytes, myelocytes, and myeloblasts in the circulating blood.\n" [] synonym: "granulocytic leukemia cell line" RELATED [] synonym: "myelocytic leukemia cell line" RELATED [] synonym: "myelogenous leukemia cell line" RELATED [] is_a: EFO:0002937 ! lymphoma or leukaemia cell line property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl [Term] id: BTO:0000797 name: colonic cancer cell line namespace: BrendaTissueOBO synonym: "colon cancer cell line" RELATED [] synonym: "colon carcinoma cell line" RELATED [] synonym: "colonic carcinoma cell line" RELATED [] is_a: CL:0000010 ! cultured cell intersection_of: CL:0000010 ! cultured cell intersection_of: has_characteristic EFO:0004288 ! colonic neoplasm property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl [Term] id: BTO:0000849 name: melanoma cell line is_a: EFO:0001639 ! cancer cell line intersection_of: CL:0000010 ! cultured cell intersection_of: has_characteristic EFO:0000756 ! melanoma [Term] id: BTO:0001030 name: J774.2 cell namespace: BrendaTissueOBO def: "\nMouse, BALB/c, blood, not defined tumor cell line. Recloned from J774.1 original ascites and solid tumour. Produces IL-1.\n" [] is_a: BTO:0002279 ! J-774 cell property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl [Term] id: BTO:0001033 name: prostate cancer cell line namespace: BrendaTissueOBO synonym: "CaP cell" RELATED [] synonym: "CaP cell line" RELATED [] synonym: "PCa cell" RELATED [] synonym: "PCa cell line" RELATED [] synonym: "prostate carcinoma cell line" RELATED [] synonym: "prostate gland cancer cell line" RELATED [] synonym: "prostate tumor cell line" RELATED [] is_a: EFO:0001639 ! cancer cell line intersection_of: CL:0000010 ! cultured cell intersection_of: has_characteristic MONDO:0008315 ! prostate cancer property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl [Term] id: BTO:0001038 name: peritrophic membrane def: "A delicate, cylindrical sheath of chitin continuously secreted from the posterior edge of the foregut of insects and millipedes that ingest solid food, which surrounds the food as it passes through the midgut." [] is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0001045 ! midgut [Term] id: BTO:0001093 name: WEHI-231 cell namespace: BrendaTissueOBO def: "\nMouse, BALB/cxNZB F1, lymphoblastic lymphoma cell line. Morphology: Lymphoblast Mouse B cell lymphoma.\n" [] is_a: EFO:0002887 ! mouse cell line property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl [Term] id: BTO:0001130 name: prostate gland cancer cell namespace: BrendaTissueOBO def: "\nA malignant tumour cell of glandular origin in the prostate. Over 95% are adenocarcinomas.\n" [] synonym: "prostate cancer cell" RELATED [] synonym: "prostate carcinoma cell" RELATED [] synonym: "prostate tumor cell" RELATED [] synonym: "prostate tumour cell" RELATED [] is_a: EFO:0005934 ! disease cell type relationship: has_characteristic EFO:0001663 ! prostate carcinoma property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl [Term] id: BTO:0001205 name: RT4-D6P2T cell namespace: BrendaTissueOBO def: "\nRat, nervous system, immature, Schwann cell derived cell line.\n" [] synonym: "D6P2T cell" RELATED [] is_a: EFO:0002936 ! rat cell line property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl [Term] id: BTO:0001383 name: alveolar bone def: "The thin layer of bone making up the bony processes of the maxilla and mandible, and surrounding and containing the teeth; it is pierced by many small openings through which blood vessels, lymphatics, and nerve fibers pass." [] xref: UBERON:0004103 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000165 ! mouth [Term] id: BTO:0001384 name: tissue culture xref: NCIt:C17201 xref: SNOMEDCT:77601007 is_a: BFO:0000040 ! material entity [Term] id: BTO:0001436 name: mycelium def: "1: The vegetative part of a fungus, consisting of a mass of branching, threadlike hyphae.n2: A similar mass of fibers formed by certain bacteria." [] xref: MeSH:D025282 xref: NCIt:C79645 is_a: EFO:0000788 ! fungal component [Term] id: BTO:0001516 name: BA/F3 cell def: "Mouse pro B cell line. IL-3 dependent murine pro B cell line established from peripheral blood; apparently derived from BALB/c mouse." [] is_a: EFO:0002887 ! mouse cell line relationship: RO:0001000 EFO:0000602 ! derives_from BALB/c [Term] id: BTO:0001518 name: B-lymphoma cell line namespace: BrendaTissueOBO synonym: "B-cell lymphoma cell line" RELATED [] is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000574 ! lymphoma property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl [Term] id: BTO:0001615 name: colorectal cancer cell namespace: BrendaTissueOBO synonym: "colorectal carcinoma cell" RELATED [] synonym: "CRC cell" RELATED [] is_a: EFO:0005934 ! disease cell type relationship: has_characteristic MONDO:0005575 ! colorectal cancer property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl [Term] id: BTO:0001616 name: colorectal cancer cell line namespace: BrendaTissueOBO synonym: "CRC cell line" RELATED [] is_a: EFO:0001639 ! cancer cell line intersection_of: CL:0000010 ! cultured cell intersection_of: has_characteristic MONDO:0005575 ! colorectal cancer relationship: develops_from BTO:0001615 ! colorectal cancer cell property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl [Term] id: BTO:0001629 name: obsolete_left ventricle def: "The ventricles are the two lower chambers of the heart. The left ventricle is the chamber that receives blood from the left atrium and pumps it out under high pressure to the body via the aorta." [] xref: NCIt:C12871 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.75" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use UBERON_0002084 'heart left ventricle' instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002084 [Term] id: BTO:0001630 name: obsolete_right ventricle def: "The lower right chamber of the heart that receives deoxygenated blood from the right atrium and pumps it under low pressure into the lungs via the pulmonary artery." [] xref: NCIt:C12870 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.75" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use UBERON_0002080 'heart right ventricle' instead" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002080 [Term] id: BTO:0001678 name: obsolete_Th1-cell namespace: BrendaTissueOBO def: "\nSubset of helper-inducer T-lymphocytes which synthesize and secrete interleukin-2, gamma-interferon, and interleukin-12. Due to their ability to kill antigen-presenting cells and their lymphokine-mediated effector activity, Th1 cells are associated with vigorous delayed-type hypersensitivity reactions.\n" [] synonym: "Th1 cell" RELATED [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.60" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate of T-helper 1 cell, already imported from CL. Xref added to that class." xsd:string property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/CL_0000545 [Term] id: BTO:0001679 name: obsolete_Th2-cell namespace: BrendaTissueOBO def: "\nSubset of helper-inducer T-lymphocytes which synthesize and secrete the interleukins IL-4, IL-5, IL-6, and IL-10. These cytokines influence B-cell development and antibody production as well as augmenting humoral responses.\n" [] synonym: "Th2 cell" RELATED [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.60" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate of CL imported term T-helper 2 cell. Xref and syn added." xsd:string property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/CL_0000546 [Term] id: BTO:0001708 name: coelomic fluid namespace: BrendaTissueOBO def: "\nCoelomic fluid probably aids in oxygen transport and may contain some cells with hemoglobin.\n" [] is_a: UBERON:0006314 ! bodily fluid property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl [Term] id: BTO:0001795 name: anterior silk gland namespace: BrendaTissueOBO is_a: UBERON:0011146 ! silk gland property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl [Term] id: BTO:0001899 name: stationary phase culture def: "A cell culture at the plateau of the growth curve after log growth in a culture, during which cell number remains constant. New cells are produced at the same rate as older cells die." [] is_a: BTO:0000214 ! cell culture is_a: EFO:0002958 ! experimental cell relationship: RO:0000056 EFO:0002694 ! participates_in experimental process [Term] id: BTO:0001900 name: growth phase culture def: "The characteristic periods in the growth of a bacterial culture, as indicated by the shape of a graph of viable cell number versus time." [] is_a: BTO:0000214 ! cell culture [Term] id: BTO:0001903 name: logarithmic phase culture def: "A cell culture at the steepest slope of the growth curve of a culture-- at the phase of vigorous growth during which cell number doubles every 20-30 minutes." [] is_a: EFO:0002958 ! experimental cell relationship: RO:0000056 EFO:0002694 ! participates_in experimental process [Term] id: BTO:0001948 name: JURKAT E-6.1 cell namespace: BrendaTissueOBO def: "Human, blood, leukemia, T cell line, clone E6.1." [] comment: This is a pseudodiploid human cell line. The modal chromosome number is 46, occurring in 74% with polyploidy at 5.3%. The karyotype is 46,XY,-2,-18,del(2) (p21p23),del(18) (p11.2). Most cells had normal X and Y chromosomes. synonym: "Jurkat cell E-6.1" EXACT [] synonym: "Jurkat cell E6.1" EXACT [] synonym: "JURKAT E-61 cell" RELATED [] synonym: "Jurkat E6.1" EXACT [] synonym: "TIB-152" EXACT [] xref: ATCC:TIB-152 is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male relationship: RO:0001000 EFO:0002796 ! derives_from Jurkat property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl [Term] id: BTO:0001967 name: cervical cancer cell line namespace: BrendaTissueOBO synonym: "cervical carcinoma cell line" RELATED [] synonym: "cervix cancer cell" RELATED [] is_a: EFO:0001639 ! cancer cell line intersection_of: CL:0000010 ! cultured cell intersection_of: has_characteristic MONDO:0002974 ! cervical cancer property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl [Term] id: BTO:0002178 name: HMEpC cell def: "\"Human Mammary Epithelial Cells (HMEpC) are derived from normal adult mammary glands.\" [Cell Applications Inc.:http\\://cellapplications.com/]" [] synonym: "HMEC cell" EXACT [] synonym: "human mammary epithelial cell" EXACT [] is_a: EFO:0002884 ! mammary gland cell line property_value: http://purl.obolibrary.org/obo/namespace "BrendaTissueOBO" xsd:string [Term] id: BTO:0002179 name: 184A1N4 cell def: "\"The 184A1N4 and 184B5 cell lines are nontumorigenic cell lines derived from primary cultures of HMECs that were immortalized with benzo(a)pyrene.\" [PMID:15827326]" [] synonym: "A1N4 cell" EXACT [] is_a: EFO:0002884 ! mammary gland cell line relationship: RO:0001000 BTO:0002178 ! derives_from HMEpC cell property_value: http://purl.obolibrary.org/obo/namespace "BrendaTissueOBO" xsd:string [Term] id: BTO:0002180 name: 184B5 cell def: "\"The 184A1N4 and 184B5 cell lines are nontumorigenic cell lines derived from primary cultures of HMECs that were immortalized with benzo(a)pyrene.\" [PMID:15827326]" [] is_a: EFO:0002884 ! mammary gland cell line relationship: RO:0001000 BTO:0002178 ! derives_from HMEpC cell property_value: http://purl.obolibrary.org/obo/namespace "BrendaTissueOBO" xsd:string [Term] id: BTO:0002217 name: culture supernatant def: "The clear fluid above a sediment or precipitate of a cell culture." [] is_a: BTO:0000214 ! cell culture [Term] id: BTO:0002278 name: macrophage cell line namespace: BrendaTissueOBO is_a: CL:0000010 ! cultured cell property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl [Term] id: BTO:0002279 name: J-774 cell namespace: BrendaTissueOBO def: "Mouse macrophage cell line." [] synonym: "J774 cell" RELATED [] is_a: EFO:0002887 ! mouse cell line property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl [Term] id: BTO:0002488 name: uterine leiomyosarcoma cell line namespace: BrendaTissueOBO is_a: EFO:0001639 ! cancer cell line property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl [Term] id: BTO:0002599 name: RBA-2 cell def: "\"Rat brain-derived type-2 astrocyte cell line.\" [PMID:14575868]" [] is_a: EFO:0002936 ! rat cell line property_value: http://purl.obolibrary.org/obo/namespace "BrendaTissueOBO" xsd:string [Term] id: BTO:0002690 name: biofilm is_a: BFO:0000040 ! material entity [Term] id: BTO:0002842 name: cholangioma cell def: "A rare type of hepatocellular carcinoma arising from the cholangioles, composed of tumor cells resembling the epithelial cells of the cholangioles arranged in cords consisting of two layers of cells surrounding a minute lumen." [] synonym: "bile duct carcinoma cell" EXACT [] synonym: "cholangiocellular carcinoma cell" EXACT [] synonym: "extrahepatic bile duct carcinoma cell" EXACT [] is_a: EFO:0005934 ! disease cell type relationship: develops_from UBERON:0002394 ! bile duct [Term] id: BTO:0002844 name: breast invasive ductal carcinoma cell def: "Infiltrating ductal carcinoma is one of several recognized specific patterns of cancer of the breast. It is so named because it begins in the cells forming the ducts of the breast. It is the most common form of breast cancer, comprising 65-85% of all cases." [] synonym: "breast infiltrating ductal carcinoma cell" EXACT [] synonym: "IDC cell" EXACT [] synonym: "invasive ductal carcinoma cell" EXACT [] is_a: EFO:0005934 ! disease cell type relationship: develops_from UBERON:0001911 ! mammary gland relationship: has_characteristic EFO:0000186 ! invasive breast ductal carcinoma [Term] id: BTO:0003147 name: obsolete_juvenile leaf def: "Distinct from adult leaves, being characterized by particular anatomical traits namely, wax and trichome distribution, presence or absence of epidermal cell types, cell wall shape and biochemistry. The first juvenile leaves are e.g. the embryonic leaves found in the grass kernel (caryopsis)." [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replacing BTO_0003147 in favor of http://purl.obolibrary.org/obo/PO_0006339" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0006339 [Term] id: BTO:0003250 name: colonic epithelium cell line namespace: BrendaTissueOBO synonym: "colon epithelial cell line" RELATED [] synonym: "colonic epithelial cell line" RELATED [] is_a: EFO:0001641 ! epithelial cell derived cell line property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl [Term] id: BTO:0003264 name: HL-1 cell namespace: BrendaTissueOBO def: "\nA cardiac muscle cell line from the AT-1 mouse atrial cardiomyocyte tumor lineage; established from an adult female Jackson Laboratory-inbred C57BLy6J mouse.\n" [] synonym: "HL1 cell" RELATED [] is_a: EFO:0002887 ! mouse cell line property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl [Term] id: BTO:0003699 name: C1R cell def: "The HLA-A,B negative mutant cell line C1R is widely used as a transfection recipient in functional studies of class I MHC genes. It was derived from a normal B cell line." [] is_a: EFO:0001640 ! B cell derived cell line relationship: RO:0001000 EFO:0001640 ! derives_from B cell derived cell line [Term] id: BTO:0004059 name: CCD-18Co cell def: "Human normal colon fibroblast cell line established from a black 2.5-months-old human female." [] is_a: EFO:0002922 ! normal cell line relationship: develops_from UBERON:0001155 ! colon relationship: has_characteristic PATO:0000461 ! normal [Term] id: BTO:0004263 name: COM-3 cell def: "\"A differentiating cell line, established from the mouse myoblastic cell line C2C12.\" [PMID:9227903]" [] synonym: "COM3 cell" EXACT [] is_a: BTO:0000256 ! myoblast cell line property_value: http://purl.obolibrary.org/obo/namespace "BrendaTissueOBO" xsd:string [Term] id: BTO:0004264 name: INC-2 cell def: "\"A non-differentiating cell line, established from the mouse myoblastic cell line C2C12.\" [PMID:9227903]" [] synonym: "INC2 cell" EXACT [] is_a: EFO:0002887 ! mouse cell line property_value: http://purl.obolibrary.org/obo/namespace "BrendaTissueOBO" xsd:string [Term] id: BTO:0004298 name: corneal epithelial cell synonym: "corneal endothelial cell" EXACT [] is_a: CL:0000066 ! epithelial cell relationship: part_of UBERON:0001772 ! corneal epithelium [Term] id: BTO:0004578 name: vascular smooth muscle cell namespace: BrendaTissueOBO synonym: "VSMC cell" RELATED [] is_a: EFO:0002956 ! musculo-skeletal system cell property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl created_by: mgr creation_date: 2010-04-11T12:13:16Z [Term] id: BTO:0004687 name: orbit def: "The bony socket of the eye." [] xref: MeSH:D009915 xref: NCIt:C12347 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000033 ! head [Term] id: BTO:0005136 name: ES-E14 cell namespace: BrendaTissueOBO def: "Mouse embryonic stem cell line." [] synonym: "E-14 cell" RELATED [] synonym: "E14 cell" RELATED [] is_a: EFO:0002886 ! stem cell derived cell line property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl created_by: XPMUser creation_date: 2011-05-11T10:03:05Z [Term] id: BTO:0005339 name: Ma-Mel-11 cell namespace: BrendaTissueOBO def: "\nEstablished melanoma cell line from the Skin Cancer Unit at the German Cancer Research Center, Heidelberg.\n" [] is_a: BTO:0000849 ! melanoma cell line property_value: IAO:0000412 http://purl.obolibrary.org/obo/bto.owl created_by: XPMUser creation_date: 2012-03-23T09:11:06Z [Term] id: CHEBI:100241 name: ciprofloxacin namespace: chebi_ontology alt_id: CHEBI:102718 alt_id: CHEBI:3717 alt_id: CHEBI:41638 def: "A quinolone that is quinolin-4(1H)-one bearing cyclopropyl, carboxylic acid, fluoro and piperazin-1-yl substituents at positions 1, 3, 6 and 7, respectively." [] subset: 3_STAR synonym: "1-cyclopropyl-6-fluoro-1,4-dihydro-4-oxo-7-(1-piperazinyl)-3-quinolinecarboxylic acid" RELATED [ChemIDplus] synonym: "1-cyclopropyl-6-fluoro-4-oxo-7-(piperazin-1-yl)-1,4-dihydroquinoline-3-carboxylic acid" EXACT IUPAC_NAME [IUPAC] synonym: "1-cyclopropyl-6-fluoro-4-oxo-7-(piperazin-1-yl)-1,4-dihydroquinoline-3-carboxylic acid" RELATED [ChEMBL] synonym: "1-Cyclopropyl-6-fluoro-4-oxo-7-piperazin-1-yl-1,4-dihydro-quinoline-3-carboxylic acid" RELATED [ChEMBL] synonym: "1-CYCLOPROPYL-6-FLUORO-4-OXO-7-PIPERAZIN-1-YL-1,4-DIHYDROQUINOLINE-3-CARBOXYLIC ACID" RELATED [PDBeChem] synonym: "1-cyclopropyl-6-fluoro-4-oxo-7-piperazin-1-ylquinoline-3-carboxylic acid" RELATED [ChEMBL] synonym: "1-Cyclopropyl-6-fluoro-7-(4-methyl-piperazin-1-yl)-4-oxo-1,4-dihydro-quinoline-3-carboxylic acid" RELATED [ChEMBL] synonym: "1-cyclopropyl-6-fluoro-7-hexahydro-1-pyrazinyl-4-oxo-1,4-dihydro-3-quinolinecarboxylic acid" RELATED [ChEMBL] synonym: "Ciprofloxacin" EXACT [KEGG_COMPOUND] synonym: "ciprofloxacin" EXACT [ChEMBL] synonym: "ciprofloxacin" RELATED INN [ChemIDplus] synonym: "ciprofloxacine" RELATED INN [ChemIDplus] synonym: "ciprofloxacino" RELATED INN [ChemIDplus] synonym: "ciprofloxacinum" RELATED INN [ChemIDplus] xref: Beilstein:3568352 {source="Beilstein"} xref: CAS:85721-33-1 {source="ChemIDplus"} xref: CAS:85721-33-1 {source="KEGG COMPOUND"} xref: Drug_Central:659 {source="DrugCentral"} xref: DrugBank:DB00537 xref: HMDB:HMDB0014677 xref: KEGG:C05349 xref: KEGG:D00186 xref: LINCS:LSM-5226 xref: MeSH:D002939 xref: NCIt:C375 xref: Patent:DE3142854 xref: Patent:US4670444 xref: PDBeChem:CPF xref: PMID:10397494 {source="ChEMBL"} xref: PMID:10737746 {source="ChEMBL"} xref: Reaxys:3568352 {source="Reaxys"} xref: SNOMEDCT:372840008 xref: SNOMEDCT:7577004 xref: VSDB:1763 xref: Wikipedia:Ciprofloxacin is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:36047 ! antibacterial drug property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C17H18FN3O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C17H18FN3O3/c18-13-7-11-14(8-15(13)20-5-3-19-4-6-20)21(10-1-2-10)9-12(16(11)22)17(23)24/h7-10,19H,1-6H2,(H,23,24)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "MYSWGUAQZAJSOK-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "331.34150" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "331.13322" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)c1cn(C2CC2)c2cc(N3CCNCC3)c(F)cc2c1=O" xsd:string [Term] id: CHEBI:100246 name: norfloxacin namespace: chebi_ontology alt_id: CHEBI:7629 def: "A quinolinemonocarboxylic acid with broad-spectrum antibacterial activity against most gram-negative and gram-positive bacteria. Norfloxacin is bactericidal and its mode of action depends on blocking of bacterial DNA replication by binding itself to an enzyme called DNA gyrase." [] subset: 3_STAR synonym: "1,4-Dihydro-1-ethyl-6-fluoro-4-oxo-7-(1-piperazinyl)-3-quinolinecarboxylic acid" RELATED [ChemIDplus] synonym: "1-Ethyl-6-fluor-1,4-dihydro-4-oxo-7-(1-piperazinyl)-3-chinolincarbonsaeure" RELATED [ChemIDplus] synonym: "1-Ethyl-6-fluoro-1,4-dihydro-4-oxo-7-(1-piperazinyl)-3-quinolinecarboxylic acid" RELATED [ChemIDplus] synonym: "1-ethyl-6-fluoro-4-oxo-7-(piperazin-1-yl)-1,4-dihydroquinoline-3-carboxylic acid" EXACT IUPAC_NAME [IUPAC] synonym: "NFLX" RELATED [KEGG_DRUG] synonym: "norfloxacin" RELATED INN [KEGG_DRUG] synonym: "norfloxacine" RELATED INN [ChemIDplus] synonym: "norfloxacino" RELATED INN [ChemIDplus] synonym: "norfloxacinum" RELATED INN [ChemIDplus] xref: Beilstein:567897 "Beilstein Registry Number" xref: Beilstein:567897 {source="Beilstein"} xref: CAS:70458-96-7 {source="ChemIDplus"} xref: CAS:70458-96-7 {source="KEGG COMPOUND"} xref: ChEMBL:100246 "ChEMBL COMPOUND" xref: ChemIDplus:70458-96-7 "CAS Registry Number" xref: CiteXplore:3317294 "PubMed citation" xref: CiteXplore:3908074 "PubMed citation" xref: CiteXplore:6211142 "PubMed citation" xref: CiteXplore:6224685 "PubMed citation" xref: CiteXplore:6234465 "PubMed citation" xref: CiteXplore:6454381 "PubMed citation" xref: CiteXplore:6461606 "PubMed citation" xref: Drug_Central:1967 {source="DrugCentral"} xref: DrugBank:DB01059 "DrugBank" xref: DrugBank:DB01059 xref: Gmelin:1576626 "Gmelin Registry Number" xref: Gmelin:1576626 {source="Gmelin"} xref: HMDB:HMDB0015192 xref: KEGG COMPOUND:70458-96-7 "CAS Registry Number" xref: KEGG COMPOUND:C06687 "KEGG COMPOUND" xref: KEGG DRUG:D00210 "KEGG DRUG" xref: KEGG:C06687 xref: KEGG:D00210 xref: LINCS:LSM-5286 xref: MeSH:D009643 xref: NCIt:C47638 xref: Patent:BE863429 "Patent" xref: Patent:BE863429 xref: Patent:DE2840910 "Patent" xref: Patent:DE2840910 xref: Patent:US4146719 "Patent" xref: Patent:US4146719 xref: Patent:US4292317 "Patent" xref: Patent:US4292317 xref: PMID:3317294 {source="Europe PMC"} xref: PMID:3908074 {source="Europe PMC"} xref: PMID:6211142 {source="Europe PMC"} xref: PMID:6224685 {source="Europe PMC"} xref: PMID:6234465 {source="Europe PMC"} xref: PMID:6454381 {source="Europe PMC"} xref: PMID:6461606 {source="Europe PMC"} xref: Reaxys:567897 {source="Reaxys"} xref: SNOMEDCT:387271008 xref: SNOMEDCT:49485009 xref: VSDB:1831 xref: Wikipedia:Norfloxacin "Wikipedia" xref: Wikipedia:Norfloxacin is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:36047 ! antibacterial drug relationship: has_role CHEBI:59517 ! DNA synthesis inhibitor property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C16H18FN3O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C16H18FN3O3/c1-2-19-9-11(16(22)23)15(21)10-7-12(17)14(8-13(10)19)20-5-3-18-4-6-20/h7-9,18H,2-6H2,1H3,(H,22,23)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OGJPXUAPXNRGGI-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "319.33080" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "319.13322" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCn1cc(C(O)=O)c(=O)c2cc(F)c(cc12)N1CCNCC1" xsd:string [Term] id: CHEBI:10033 name: warfarin namespace: chebi_ontology def: "A racemate comprising equal amounts of (R)- and (S)-warfarin. Extensively used as both an anticoagulant drug and as a pesticide against rats and mice." [] subset: 3_STAR synonym: "(+/-)-Warfarin" RELATED [NIST_Chemistry_WebBook] synonym: "(Phenyl-1 acetyl-2 ethyl) 3-hydroxy-4 coumarine" RELATED [ChemIDplus] synonym: "(RS)-Warfarin" RELATED [NIST_Chemistry_WebBook] synonym: "1-(4'-Hydroxy-3'-coumarinyl)-1-phenyl-3-butanone" RELATED [ChemIDplus] synonym: "2H-1-Benzopyran-2-one, 4-hydroxy-3-(3-oxo-1-phenylbutyl)-" RELATED [ChemIDplus] synonym: "3-(1'-Phenyl-2'-acetylethyl)-4-hydroxycoumarin" RELATED [ChemIDplus] synonym: "3-(Acetonylbenzyl)-4-hydroxycoumarin" RELATED [NIST_Chemistry_WebBook] synonym: "3-(Alpha-acetonylbenzyl)-4-hydroxycoumarin" RELATED [NIST_Chemistry_WebBook] synonym: "3-(alpha-Phenyl-beta-acetylaethyl)-4-hydroxycumarin" RELATED [ChemIDplus] synonym: "3-(alpha-Phenyl-beta-acetylethyl)-4-hydroxycoumarin" RELATED [ChemIDplus] synonym: "4-Hydroxy-3-(3-oxo-1-phenyl-butyl)-cumarin" RELATED [ChemIDplus] synonym: "4-Hydroxy-3-(3-oxo-1-phenylbutyl)coumarin" RELATED [ChEBI] synonym: "Coumafene" RELATED [ChemIDplus] synonym: "DL-3-(alpha-acetonylbenzyl)-4-hydroxycoumarin" RELATED [NIST_Chemistry_WebBook] synonym: "DL-warfarin" RELATED [ChEBI] synonym: "rac-4-hydroxy-3-(3-oxo-1-phenylbutyl)-2H-1-benzopyran-2-one" EXACT IUPAC_NAME [IUPAC] synonym: "rac-warfarin" RELATED [ChEBI] synonym: "racemic warfarin" RELATED [ChEBI] synonym: "Warf 10" RELATED BRAND_NAME [DrugBank] synonym: "warfarin" RELATED INN [ChemIDplus] synonym: "warfarina" RELATED INN [ChemIDplus] synonym: "warfarine" RELATED INN [ChemIDplus] synonym: "warfarinum" RELATED INN [ChemIDplus] synonym: "Zoocoumarin" RELATED [ChemIDplus] xref: Beilstein:1293536 {source="Beilstein"} xref: CAS:81-81-2 {source="KEGG COMPOUND"} xref: CAS:81-81-2 {source="ChemIDplus"} xref: CAS:81-81-2 {source="NIST Chemistry WebBook"} xref: DrugBank:DB00682 xref: HMDB:HMDB0001935 xref: KEGG:C01541 xref: KEGG:D08682 xref: MeSH:D014859 xref: NCIt:C945 xref: Patent:US2427578 xref: Patent:US2765321 xref: Patent:US2777859 xref: Patent:US3239529 xref: PMID:13358873 {source="Europe PMC"} xref: PMID:15578879 {source="Europe PMC"} xref: PMID:18294321 {source="Europe PMC"} xref: PMID:19294412 {source="Europe PMC"} xref: PMID:24478171 {source="Europe PMC"} xref: PMID:24973057 {source="Europe PMC"} xref: PMID:25022924 {source="Europe PMC"} xref: PMID:25023204 {source="Europe PMC"} xref: PMID:25393417 {source="Europe PMC"} xref: PMID:25466603 {source="Europe PMC"} xref: PMID:25534862 {source="Europe PMC"} xref: PMID:25537751 {source="Europe PMC"} xref: PMID:25555316 {source="Europe PMC"} xref: PMID:25683623 {source="Europe PMC"} xref: PMID:25757926 {source="Europe PMC"} xref: PMID:25823787 {source="Europe PMC"} xref: PMID:25828628 {source="Europe PMC"} xref: PMID:25830869 {source="Europe PMC"} xref: PMID:25842804 {source="Europe PMC"} xref: PMID:25845131 {source="Europe PMC"} xref: PMID:25986145 {source="Europe PMC"} xref: PMID:26114209 {source="Europe PMC"} xref: PMID:26142522 {source="Europe PMC"} xref: PMID:26142525 {source="Europe PMC"} xref: PMID:26203765 {source="Europe PMC"} xref: PMID:26238769 {source="Europe PMC"} xref: Reaxys:1293536 {source="Reaxys"} xref: SNOMEDCT:372756006 xref: SNOMEDCT:48603004 xref: Wikipedia:Warfarin is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:50249 ! anticoagulant relationship: has_role EFO:0001899 ! drug role [Term] id: CHEBI:101278 name: diltiazem namespace: chebi_ontology alt_id: CHEBI:4602 def: "A 5-[2-(dimethylamino)ethyl]-2-(4-methoxyphenyl)-4-oxo-2,3,4,5-tetrahydro-1,5-benzothiazepin-3-yl acetate in which both stereocentres have S configuration. A calcium-channel blocker and vasodilator, it is used as the hydrochloride in the management of angina pectoris and hypertension." [] subset: 3_STAR synonym: "(+)-cis-5-[2-(dimethylamino)ethyl]-2,3-dihydro-3-hydroxy-2-(p-methoxyphenyl)-1,5-benzothiazepin-4(5H)-one acetate ester" RELATED [ChEBI] synonym: "(2S,3S)-5-(2-(dimethylamino)ethyl)-2-(4-methoxyphenyl)-4-oxo-2,3,4,5-tetrahydrobenzo[b][1,4]thiazepin-3-yl acetate" RELATED [ChEMBL] synonym: "(2S,3S)-5-[2-(dimethylamino)ethyl]-2-(4-methoxyphenyl)-4-oxo-2,3,4,5-tetrahydro-1,5-benzothiazepin-3-yl acetate" EXACT IUPAC_NAME [IUPAC] synonym: "(2S-cis)-3-(acetyloxy)-5-[2-(dimethylamino)ethyl]-2,3-dihydro-2-(4-methoxyphenyl)-1,5-benzothiazepin-4(5H)-one" RELATED [ChEBI] synonym: "Acetic acid (2S,3S)-5-(2-dimethylamino-ethyl)-2-(4-methoxy-phenyl)-4-oxo-2,3,4,5-tetrahydro-benzo[b][1,4]thiazepin-3-yl ester" RELATED [ChEMBL] synonym: "D-cis-diltiazem" RELATED [ChEBI] synonym: "d-cis-diltiazem" RELATED [ChEBI] synonym: "diltiazem" RELATED INN [WHO_MedNet] synonym: "diltiazem" RELATED INN [ChemIDplus] synonym: "diltiazemum" RELATED INN [ChemIDplus] xref: Beilstein:3573079 {source="Beilstein"} xref: CAS:42399-41-7 {source="ChemIDplus"} xref: CAS:42399-41-7 {source="NIST Chemistry WebBook"} xref: CAS:42399-41-7 {source="KEGG COMPOUND"} xref: Drug_Central:897 {source="DrugCentral"} xref: DrugBank:DB00343 xref: HMDB:HMDB0014487 xref: KEGG:C06958 xref: KEGG:D07845 xref: LINCS:LSM-2523 xref: Patent:DE1805714 xref: Patent:DE3415035 xref: Patent:US3562257 xref: Patent:US4552695 xref: PMID:11937779 {source="Europe PMC"} xref: PMID:16651034 {source="Europe PMC"} xref: PMID:19167257 {source="Europe PMC"} xref: PMID:23687551 {source="Europe PMC"} xref: PMID:24261918 {source="Europe PMC"} xref: PMID:25122162 {source="Europe PMC"} xref: PMID:8369596 {source="Europe PMC"} xref: Reaxys:3573079 {source="Reaxys"} xref: VSDB:1863 xref: Wikipedia:Diltiazem is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H26N2O4S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C22H26N2O4S/c1-15(25)28-20-21(16-9-11-17(27-4)12-10-16)29-19-8-6-5-7-18(19)24(22(20)26)14-13-23(2)3/h5-12,20-21H,13-14H2,1-4H3/t20-,21+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HSUGRBWQSSZJOP-RTWAWAEBSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "414.51800" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "414.16133" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "COc1ccc(cc1)[C@@H]1Sc2ccccc2N(CCN(C)C)C(=O)[C@@H]1OC(C)=O" xsd:string [Term] id: CHEBI:106304 name: sphingomyelin d18:1/16:0 namespace: chebi_ontology def: "A sphingomyelin d18:1 in which the fatty acyl group contains 16 carbons and is fully saturated." [] subset: 3_STAR synonym: "sphingomyelin C16:0" RELATED [ChEBI] is_a: CHEBI:17636 ! sphingomyelin d18:1 is_a: CHEBI:72514 ! sphingomyelin 34:1 property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C39H79N2O6P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "702.5675384" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "702.56757" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C@@H]([C@@H](/C=C/CCCCCCCCCCCCC)O)(COP(OCC[N+](C)(C)C)(=O)[O-])NC(=O)*" xsd:string [Term] id: CHEBI:106363 name: sphingomyelin d18:1/16:1 namespace: chebi_ontology def: "A sphingomyelin d18:1 in which the fatty acyl group contains 16 carbons and 1 double bond" [] subset: 3_STAR synonym: "sphingomyelin C16:1" RELATED [ChEBI] is_a: CHEBI:17636 ! sphingomyelin d18:1 property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C39H77N2O6P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "701.0122" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "700.55192" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C@@H]([C@@H](/C=C/CCCCCCCCCCCCC)O)(COP(OCC[N+](C)(C)C)(=O)[O-])NC(=O)*" xsd:string [Term] id: CHEBI:107726 name: sphingomyelin d18:1/24:1 namespace: chebi_ontology def: "A sphingomyelin d18:1 in which the fatty acyl group contains 24 carbons and 1 double bond." [] subset: 3_STAR synonym: "SM(d18:1/24:1)" RELATED [ChEBI] synonym: "sphingomyelin C24:1" RELATED [ChEBI] is_a: CHEBI:17636 ! sphingomyelin d18:1 property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C47H93N2O6P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "813.22490" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "812.67713" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C@@H]([C@@H](/C=C/CCCCCCCCCCCCC)O)(COP(OCC[N+](C)(C)C)(=O)[O-])NC(=O)*" xsd:string [Term] id: CHEBI:11009 name: (R)-3-phenyllactate namespace: chebi_ontology def: "A (2R)-2-hydroxy monocarboxylic acid anion resulting from the removal of a proton from the carboxylic acid group of (R)-3-phenyllactic acid." [] subset: 3_STAR synonym: "(2R)-2-hydroxy-3-phenylpropanoate" EXACT IUPAC_NAME [IUPAC] synonym: "(R)-3-phenyllactate" EXACT [UniProt] is_a: CHEBI:8100 ! 3-phenyllactate property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H9O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H10O3/c10-8(9(11)12)6-7-4-2-1-3-5-7/h1-5,8,10H,6H2,(H,11,12)/p-1/t8-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VOXXWSYKYCBWHO-MRVPVSSYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "165.16596" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "165.05572" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O[C@H](Cc1ccccc1)C([O-])=O" xsd:string [Term] id: CHEBI:11424 name: 2,3-dihydroxy-3-methylbutanoate namespace: chebi_ontology subset: 3_STAR synonym: "2,3-dihydroxy-3-methylbutanoate" EXACT [UniProt] synonym: "2,3-dihydroxyisovalerate" RELATED [ChEBI] is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H9O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H10O4/c1-5(2,9)3(6)4(7)8/h3,6,9H,1-2H3,(H,7,8)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JTEYKUFKXGDTEU-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "133.12256" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "133.05063" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)(O)C(O)C([O-])=O" xsd:string [Term] id: CHEBI:114785 name: erlotinib namespace: chebi_ontology alt_id: CHEBI:40877 def: "A quinazoline compound having a (3-ethynylphenyl)amino group at the 4-position and two 2-methoxyethoxy groups at the 6- and 7-positions." [] subset: 3_STAR synonym: "[6,7-bis(2-methoxy-ethoxy)quinazoline-4-yl]-(3-ethynylphenyl)amine" RELATED [PDBeChem] synonym: "[6,7-bis-(2-methoxy-ethoxy)-quinazolin-4-yl]-(3-ethynyl-phenyl)-amine" RELATED [DrugBank] synonym: "erlotinib" RELATED INN [WHO_MedNet] synonym: "erlotinibum" RELATED INN [WHO_MedNet] synonym: "N-(3-ethynylphenyl)-6,7-bis(2-methoxyethoxy)quinazolin-4-amine" EXACT IUPAC_NAME [IUPAC] xref: CAS:183321-74-6 {source="KEGG DRUG"} xref: CAS:183321-74-6 {source="ChemIDplus"} xref: CAS:183321-74-6 {source="DrugBank"} xref: Drug_Central:1045 {source="DrugCentral"} xref: DrugBank:DB00530 xref: HMDB:HMDB0014671 xref: KEGG:D07907 xref: LINCS:LSM-1097 xref: Patent:US2010094004 xref: PDBeChem:AQ4 xref: PMID:12270171 {source="ChEMBL"} xref: PMID:14684309 {source="ChEMBL"} xref: PMID:15711537 {source="ChEMBL"} xref: PMID:16014882 {source="Europe PMC"} xref: PMID:16014883 {source="Europe PMC"} xref: PMID:16480284 {source="ChEMBL"} xref: PMID:17889528 {source="ChEMBL"} xref: PMID:17983745 {source="ChEMBL"} xref: PMID:29448920 {source="Europe PMC"} xref: PMID:29579331 {source="Europe PMC"} xref: PMID:29687154 {source="Europe PMC"} xref: PMID:30039303 {source="Europe PMC"} xref: PMID:30071517 {source="Europe PMC"} xref: PMID:30150014 {source="Europe PMC"} xref: PMID:30158288 {source="Europe PMC"} xref: Reaxys:8798958 {source="Reaxys"} xref: Wikipedia:Erlotinib is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H23N3O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C22H23N3O4/c1-4-16-6-5-7-17(12-16)25-22-18-13-20(28-10-8-26-2)21(29-11-9-27-3)14-19(18)23-15-24-22/h1,5-7,12-15H,8-11H2,2-3H3,(H,23,24,25)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "AAKJLRGGTJKAMG-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "393.43570" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "393.16886" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "COCCOc1cc2ncnc(Nc3cccc(c3)C#C)c2cc1OCCOC" xsd:string [Term] id: CHEBI:1148 name: 2-hydroxybutyric acid namespace: chebi_ontology alt_id: CHEBI:675746 def: "A hydroxybutyric acid having a single hydroxyl group located at position 2; urinary secretion of 2-hydroxybutyric acid is increased with alcohol ingestion or vigorous physical exercise and is associated with lactic acidosis and ketoacidosis in humans and diabetes in animals." [] subset: 3_STAR synonym: "2-Hydroxybutanoic acid" RELATED [KEGG_COMPOUND] synonym: "2-hydroxybutanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "2-Hydroxybutyric acid" EXACT [KEGG_COMPOUND] synonym: "2-Hydroxybutyric acid" EXACT [ChEMBL] synonym: "alpha-hydroxybutanoic acid" RELATED [ChEBI] synonym: "alpha-hydroxybutyric acid" RELATED [ChEBI] xref: Beilstein:878248 {source="Beilstein"} xref: CAS:600-15-7 {source="ChemIDplus"} xref: HMDB:HMDB0000008 xref: KEGG:C05984 xref: LIPID_MAPS_instance:LMFA01050004 {source="LIPID MAPS"} xref: PMID:15749359 {source="Europe PMC"} xref: PMID:164303 {source="Europe PMC"} xref: PMID:168632 {source="Europe PMC"} xref: Reaxys:878248 {source="Reaxys"} xref: Wikipedia:2-Hydroxybutyric_acid is_a: CHEBI:35366 ! fatty acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H8O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H8O3/c1-2-3(5)4(6)7/h3,5H,2H2,1H3,(H,6,7)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "AFENDNXGAFYKQO-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "104.10450" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "104.04734" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCC(O)C(O)=O" xsd:string [Term] id: CHEBI:11596 name: 2-hydroxyglutarate(2-) namespace: chebi_ontology def: "A dicarboxylic acid dianion resulting from the removal of a proton from both of the carboxylic acid groups of 2-hydroxyglutaric acid." [] subset: 3_STAR synonym: "2-hydroxyglutarate" RELATED [UniProt] synonym: "2-hydroxypentanedioate" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:5736650 {source="Beilstein"} xref: MetaCyc:2-HYDROXYGLUTARIC_ACID xref: Reaxys:5736650 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H6O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H8O5/c6-3(5(9)10)1-2-4(7)8/h3,6H,1-2H2,(H,7,8)(H,9,10)/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HWXBTNAVRSUOJR-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "146.09814" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "146.02262" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(CCC([O-])=O)C([O-])=O" xsd:string [Term] id: CHEBI:116314 name: oleamide namespace: chebi_ontology alt_id: CHEBI:42271 def: "A fatty amide derived from oleic acid." [] subset: 3_STAR synonym: "(9Z)-9-Octadecenamide" RELATED [NIST_Chemistry_WebBook] synonym: "(9Z)-octadec-9-enamide" EXACT IUPAC_NAME [IUPAC] synonym: "(9Z)-octadecenamide" RELATED [UniProt] synonym: "(Z)-9-Octadecenamide" RELATED [ChemIDplus] synonym: "(Z)-Octadec-9-enoic acid amide" RELATED [ChEMBL] synonym: "9-Octadecenamide" RELATED [NIST_Chemistry_WebBook] synonym: "9-Octadecenamide" RELATED [ChemIDplus] synonym: "9Z-octadecenamide" RELATED [LIPID_MAPS] synonym: "cis-9,10-Octadecenoamide" RELATED [NIST_Chemistry_WebBook] synonym: "Oleic acid amide" RELATED [LIPID_MAPS] synonym: "Oleyl amide" RELATED [ChemIDplus] synonym: "Oleylamide" RELATED [ChemIDplus] xref: Beilstein:1726539 {source="Beilstein"} xref: CAS:301-02-0 {source="NIST Chemistry WebBook"} xref: CAS:301-02-0 {source="ChemIDplus"} xref: HMDB:HMDB0002117 xref: LIPID_MAPS_instance:LMFA08010004 {source="LIPID MAPS"} xref: PMID:11681856 {source="Europe PMC"} xref: PMID:17445087 {source="Europe PMC"} xref: PMID:23078175 {source="Europe PMC"} xref: PMID:24253045 {source="Europe PMC"} xref: Reaxys:1726539 {source="Reaxys"} xref: Wikipedia:Oleamide is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H35NO" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H35NO/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-18(19)20/h9-10H,2-8,11-17H2,1H3,(H2,19,20)/b10-9-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FATBGEAMYMYZAF-KTKRTIGZSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "281.47660" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "281.27186" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCC\\C=C/CCCCCCCC(N)=O" xsd:string [Term] id: CHEBI:11805 name: 3-hydroxyisobutyrate namespace: chebi_ontology subset: 3_STAR synonym: "3-hydroxy-2-isobutyrate" RELATED [ChEBI] synonym: "3-Hydroxy-2-methylpropanoate" RELATED [KEGG_COMPOUND] synonym: "3-hydroxy-2-methylpropanoate" EXACT IUPAC_NAME [IUPAC] synonym: "3-hydroxy-2-methylpropanoate" RELATED [UniProt] synonym: "3-hydroxy-2-methylpropionate" RELATED [ChEBI] synonym: "3-Hydroxyisobutyrate" EXACT [KEGG_COMPOUND] xref: KEGG:C01188 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H7O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H8O3/c1-3(2-5)4(6)7/h3,5H,2H2,1H3,(H,6,7)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DBXBTMSZEOQQDU-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "103.09658" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "103.04007" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(CO)C([O-])=O" xsd:string [Term] id: CHEBI:11851 name: 3-methyl-2-oxobutanoate namespace: chebi_ontology def: "A 2-oxo monocarboxylic acid anion that is the conjugate base of 3-methyl-2-oxobutanoic acid, arising from deprotonation of the carboxy group." [] subset: 3_STAR synonym: "2-Oxo-3-methylbutanoate" RELATED [KEGG_COMPOUND] synonym: "2-Oxoisopentanoate" RELATED [KEGG_COMPOUND] synonym: "2-Oxoisovalerate" RELATED [KEGG_COMPOUND] synonym: "3-methyl-2-oxobutanoate" EXACT IUPAC_NAME [IUPAC] synonym: "3-methyl-2-oxobutanoate" EXACT [UniProt] synonym: "3-methyl-2-oxobutyrate" RELATED [ChEBI] synonym: "alpha-keto-isovalerate" RELATED [ChEBI] xref: KEGG:C00141 xref: MetaCyc:2-KETO-ISOVALERATE xref: PMID:9748245 {source="Europe PMC"} xref: Reaxys:3661467 {source="Reaxys"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H7O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H8O3/c1-3(2)4(6)5(7)8/h3H,1-2H3,(H,7,8)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QHKABHOOEWYVLI-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "115.10730" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "115.04007" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)C(=O)C([O-])=O" xsd:string [Term] id: CHEBI:11892 name: N-carbamoyl-beta-alaninate namespace: chebi_ontology def: "A monocarboxylic acid anion that is the conjugate base of N-carbamoyl-beta-alanine arising from deprotonation of the carboxy group." [] subset: 3_STAR synonym: "3-(carbamoylamino)propanoate" EXACT IUPAC_NAME [IUPAC] synonym: "3-(carbamoylamino)propanoate" RELATED [UniProt] synonym: "3-[(aminocarbonyl)amino]propanoate" RELATED [ChEBI] synonym: "3-ureidopropanoate" RELATED [ChEBI] synonym: "3-ureidopropionate" RELATED [ChEBI] synonym: "ureidopropanoate" RELATED [ChEBI] synonym: "ureidopropionate" RELATED [ChEBI] xref: Beilstein:3663255 {source="Beilstein"} xref: Gmelin:675229 {source="Gmelin"} xref: Reaxys:3663255 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H7N2O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H8N2O3/c5-4(9)6-2-1-3(7)8/h1-2H2,(H,7,8)(H3,5,6,9)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JSJWCHRYRHKBBW-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "131.11006" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "131.04622" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NC(=O)NCCC([O-])=O" xsd:string [Term] id: CHEBI:11951 name: 4-acetamidobutanoate namespace: chebi_ontology def: "A monocarboxylic acid anion that is the conjugate base of 4-acetamidobutanoic acid, arising from deprotonation of the carboxy group." [] subset: 3_STAR synonym: "4-acetamidobutanoate" EXACT [UniProt] synonym: "4-acetamidobutanoate" EXACT IUPAC_NAME [IUPAC] synonym: "N-acetyl-4-aminobutyrate" RELATED [MetaCyc] synonym: "N-acetyl-gamma-aminobutyrate" RELATED [MetaCyc] synonym: "N4-Acetylaminobutanoate" RELATED [KEGG_COMPOUND] xref: KEGG:C02946 xref: MetaCyc:CPD-35 xref: PMID:4156831 {source="Europe PMC"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H10NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H11NO3/c1-5(8)7-4-2-3-6(9)10/h2-4H2,1H3,(H,7,8)(H,9,10)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UZTFMUBKZQVKLK-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "144.14850" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "144.06662" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(=O)NCCCC([O-])=O" xsd:string [Term] id: CHEBI:1224 name: 2-nitrofluorene namespace: chebi_ontology def: "A nitroarene that is fluorene substituted by a nitro group at position 2." [] subset: 3_STAR synonym: "2-nitro-9H-fluorene" EXACT IUPAC_NAME [IUPAC] synonym: "2-Nitrofluorene" EXACT [KEGG_COMPOUND] synonym: "NF" RELATED [KEGG_COMPOUND] synonym: "Nitrofluorene" RELATED [ChemIDplus] xref: Beilstein:1877983 {source="Beilstein"} xref: CAS:607-57-8 {source="KEGG COMPOUND"} xref: CAS:607-57-8 {source="ChemIDplus"} xref: CAS:607-57-8 {source="NIST Chemistry WebBook"} xref: KEGG:C10923 xref: LINCS:LSM-37230 xref: PMID:10366768 {source="Europe PMC"} xref: PMID:23128813 {source="Europe PMC"} xref: Reaxys:1877983 {source="Reaxys"} xref: Wikipedia:2-Nitrofluorene is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C13H9NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C13H9NO2/c15-14(16)11-5-6-13-10(8-11)7-9-3-1-2-4-12(9)13/h1-6,8H,7H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XFOHWECQTFIEIX-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "211.21610" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "211.06333" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-][N+](=O)c1ccc-2c(Cc3ccccc-23)c1" xsd:string [Term] id: CHEBI:124991 name: cefalotin namespace: chebi_ontology alt_id: CHEBI:41547 alt_id: CHEBI:50895 def: "A semisynthetic, first-generation cephalosporin antibiotic with acetoxymethyl and (2-thienylacetyl)nitrilo moieties at positions 3 and 7, respectively, of the core structure. Administered parenterally during surgery and to treat a wide spectrum of blood infections." [] subset: 3_STAR synonym: "(6R,7R)-3-(acetoxymethyl)-8-oxo-7-(thiophen-2-ylacetamido)-5-thia-1-azabicyclo[4.2.0]oct-2-ene-2-carboxylic acid" EXACT IUPAC_NAME [IUPAC] synonym: "3-Acetoxymethyl-7-(2-thienylacetamido)-3-cephem-4-carboxylic acid" RELATED [ChemIDplus] synonym: "7-(2'-thienylacetamido)cephalosporanic acid" RELATED [ChEBI] synonym: "7-(2-Thienylacetamido)cephalosporanic acid" RELATED [ChemIDplus] synonym: "7-(Thiophene-2-acetamido)cephalosporin" RELATED [ChemIDplus] synonym: "7beta-(thiophen-2-ylacetamido)-3-acetoxymethyl-3,4-didehydrocepham-4-carboxylic acid" EXACT IUPAC_NAME [IUPAC] synonym: "Cefalothin" RELATED [DrugBank] synonym: "Cefalotin" EXACT [KEGG_COMPOUND] synonym: "cefalotin" RELATED INN [ChEBI] synonym: "cefalotina" RELATED INN [ChEBI] synonym: "cefalotine" RELATED INN [ChEBI] synonym: "cefalotinum" RELATED INN [ChEBI] synonym: "CEPHALOTHIN" RELATED [PDBeChem] synonym: "Cephalothin" RELATED [DrugBank] synonym: "Cephalotin" RELATED [DrugBank] synonym: "CET" RELATED [ChEBI] xref: Beilstein:945586 {source="Beilstein"} xref: CAS:153-61-7 {source="ChemIDplus"} xref: Drug_Central:574 {source="DrugCentral"} xref: DrugBank:DB00456 xref: HMDB:HMDB0014599 xref: KEGG:C07761 xref: KEGG:D07635 xref: LINCS:LSM-15184 xref: Patent:FR1384197 xref: Patent:US3218318 xref: PDBeChem:CLS xref: PMID:10930630 {source="Europe PMC"} xref: PMID:12569987 {source="Europe PMC"} xref: PMID:12833570 {source="Europe PMC"} xref: PMID:1384868 {source="Europe PMC"} xref: PMID:13963283 {source="Europe PMC"} xref: PMID:1701026 {source="Europe PMC"} xref: PMID:2083978 {source="Europe PMC"} xref: PMID:23472927 {source="Europe PMC"} xref: PMID:23680238 {source="Europe PMC"} xref: PMID:29017833 {source="Europe PMC"} xref: PMID:6176550 {source="Europe PMC"} xref: Reaxys:945586 {source="Reaxys"} xref: Wikipedia:Cephalothin is_a: CHEBI:35627 ! beta-lactam property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C16H16N2O6S2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C16H16N2O6S2/c1-8(19)24-6-9-7-26-15-12(14(21)18(15)13(9)16(22)23)17-11(20)5-10-3-2-4-25-10/h2-4,12,15H,5-7H2,1H3,(H,17,20)(H,22,23)/t12-,15-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XIURVHNZVLADCM-IUODEOHRSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "396.43800" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "396.04498" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]1(NC(=O)Cc2cccs2)C(=O)N2C(C(O)=O)=C(COC(C)=O)CS[C@]12[H]" xsd:string [Term] id: CHEBI:12777 name: vitamin A namespace: chebi_ontology def: "Any member of a group of fat-soluble retinoids produced via metabolism of provitamin A carotenoids that exhibit biological activity against vitamin A deficiency. Vitamin A is involved in immune function, vision, reproduction, and cellular communication." [] subset: 3_STAR synonym: "vitamin A vitamer" RELATED [ChEBI] synonym: "vitamin A vitamers" RELATED [ChEBI] synonym: "vitamin-A" RELATED [ChEBI] synonym: "vitamins A" RELATED [ChEBI] xref: MeSH:D014801 xref: MetaCyc:Vitamin-A xref: SNOMEDCT:82622003 xref: Wikipedia:Vitamin_A is_a: CHEBI:24913 ! isoprenoid relationship: has_role CHEBI:33229 ! vitamin (role) [Term] id: CHEBI:131444 name: guanidinoacetate namespace: chebi_ontology def: "A monocarboxylic acid anion that is the conjugate base of guanidinoacetic acid, obtained by deprotonation of the carboxy group." [] subset: 3_STAR synonym: "carbamimidamidoacetate" EXACT IUPAC_NAME [IUPAC] xref: Chemspider:18748017 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H6N3O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H7N3O2/c4-3(5)6-1-2(7)8/h1H2,(H,7,8)(H4,4,5,6)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BPMFZUMJYQTVII-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "116.099" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "116.04655" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(C([O-])=O)NC(=N)N" xsd:string [Term] id: CHEBI:132002 name: cholesteryl octadecadienoate namespace: chebi_ontology def: "A cholesterol ester in which the acyl group contains 18 carbons and 2 double bonds." [] subset: 3_STAR synonym: "CE(18:2)" RELATED [ChEBI] is_a: CHEBI:17002 ! cholesteryl ester property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C45H76O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "649.085" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "648.58453" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C1[C@@]2([C@]3(CC[C@]4([C@]([C@@]3(CC=C2C[C@H](C1)OC(=O)*)[H])(CC[C@@]4([C@H](C)CCCC(C)C)[H])[H])C)[H])C" xsd:string [Term] id: CHEBI:132004 name: cholesteryl octadecatrienoate namespace: chebi_ontology def: "A cholesterol ester in which the acyl group contains 18 carbons and 3 double bonds." [] subset: 3_STAR synonym: "CE(18:3)" RELATED [ChEBI] is_a: CHEBI:17002 ! cholesteryl ester property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C45H74O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "647.070" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "646.56888" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C1[C@@]2([C@]3(CC[C@]4([C@]([C@@]3(CC=C2C[C@H](C1)OC(=O)*)[H])(CC[C@@]4([C@H](C)CCCC(C)C)[H])[H])C)[H])C" xsd:string [Term] id: CHEBI:132006 name: cholesteryl icosatetraenoate namespace: chebi_ontology def: "A cholesterol ester in which the acyl group contains 20 carbons and 4 double bonds." [] subset: 3_STAR synonym: "CE(20:4)" RELATED [ChEBI] synonym: "cholesteryl eicosatetraenoate" RELATED [ChEBI] is_a: CHEBI:17002 ! cholesteryl ester property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C47H76O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "673.107" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "672.58453" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C1[C@@]2([C@]3(CC[C@]4([C@]([C@@]3(CC=C2C[C@H](C1)OC(=O)*)[H])(CC[C@@]4([C@H](C)CCCC(C)C)[H])[H])C)[H])C" xsd:string [Term] id: CHEBI:132007 name: cholesteryl icosapentaenoate namespace: chebi_ontology def: "A cholesterol ester in which the acyl group contains 20 carbons and 5 double bonds." [] subset: 3_STAR synonym: "CE(20:5)" RELATED [ChEBI] synonym: "cholesteryl eicosapentaenoate" RELATED [ChEBI] is_a: CHEBI:17002 ! cholesteryl ester property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C47H74O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "671.091" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "670.56888" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C1[C@@]2([C@]3(CC[C@]4([C@]([C@@]3(CC=C2C[C@H](C1)OC(=O)*)[H])(CC[C@@]4([C@H](C)CCCC(C)C)[H])[H])C)[H])C" xsd:string [Term] id: CHEBI:132030 name: glycoursodeoxycholate namespace: chebi_ontology def: "A N-acylglycinate that is the conjugate base of glycoursodeoxycholic acid. obtained by deprotonation of the carboxy group; major species at pH 7.3." [] subset: 3_STAR synonym: "glycoursodeoxycholate" EXACT [UniProt] synonym: "N-(3alpha,7beta-Dihydroxy-5beta-cholan-24-oyl)glycinate" RELATED [ChEBI] synonym: "N-(3alpha,7beta-dihydroxy-5beta-cholan-24-oyl)glycinate" EXACT IUPAC_NAME [IUPAC] synonym: "N-ursodeoxycholoylglycinate" RELATED [ChEBI] synonym: "{[(3alpha,5beta,7beta)-3,7-dihydroxy-24-oxocholan-24-yl]amino}acetate" RELATED [IUPAC] xref: PMID:16332456 {source="SUBMITTER"} xref: Reaxys:4301713 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C26H42NO5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C26H43NO5/c1-15(4-7-22(30)27-14-23(31)32)18-5-6-19-24-20(9-11-26(18,19)3)25(2)10-8-17(28)12-16(25)13-21(24)29/h15-21,24,28-29H,4-14H2,1-3H3,(H,27,30)(H,31,32)/p-1/t15-,16+,17-,18-,19+,20+,21+,24+,25+,26-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GHCZAUBVMUEKKP-XROMFQGDSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "448.616" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "448.30685" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C1[C@@]2([C@]3(CC[C@]4([C@]([C@@]3([C@H](C[C@@]2(C[C@@H](C1)O)[H])O)[H])(CC[C@]4([H])[C@@H](CCC(NCC([O-])=O)=O)C)[H])C)[H])C" xsd:string [Term] id: CHEBI:132034 name: triacylglycerol 56:2 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 56 carbons and 2 double bonds." [] subset: 3_STAR synonym: "TAG 56:2" RELATED [ChEBI] synonym: "TG(56:2)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C59H110O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "915.503" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "914.83024" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(C(OC(*)=O)COC(=O)*)OC(=O)*" xsd:string [Term] id: CHEBI:132479 name: N-stearoyltaurine namespace: chebi_ontology def: "A fatty acid-taurine conjugate derived from stearic acid." [] subset: 3_STAR synonym: "2-(octadecanoylamino)ethane-1-sulfonic acid" EXACT IUPAC_NAME [IUPAC] synonym: "N-octadecanoyl-taurine" RELATED [ChEBI] synonym: "N-octadecanoyltaurine" RELATED [ChEBI] synonym: "N-stearoyl taurine" RELATED [LIPID_MAPS] synonym: "N-stearoyl-taurine" RELATED [ChEBI] xref: LIPID_MAPS_instance:LMFA08020078 {source="LIPID MAPS"} xref: Reaxys:17116739 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H41NO4S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H41NO4S/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-20(22)21-18-19-26(23,24)25/h2-19H2,1H3,(H,21,22)(H,23,24,25)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LMIJIHJZVURGQK-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "391.611" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "391.27563" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(C(NCCS(O)(=O)=O)=O)CCCCCCCCCCCCCCCC" xsd:string [Term] id: CHEBI:132733 name: triacylglycerol 58:11 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 58 carbons and 11 double bonds." [] subset: 3_STAR synonym: "TAG 58:11" RELATED [ChEBI] synonym: "TAG(58:11)" RELATED [ChEBI] synonym: "TG 58:11" RELATED [ChEBI] synonym: "TG(58:11)" RELATED [ChEBI] synonym: "triacylglycerol(58:11)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C61H96O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "925.414" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "924.72069" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(C(OC(*)=O)COC(=O)*)OC(=O)*" xsd:string [Term] id: CHEBI:132917 name: 2-isopropylmalate namespace: chebi_ontology def: "A dicarboxylic acid anion obtained by deprotonation of at least one of the carboxy groups of 2-isopropylmalic acid." [] subset: 3_STAR synonym: "2-isopropylmalate anion" RELATED [ChEBI] synonym: "2-isopropylmalic acid anion" RELATED [ChEBI] is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:132934 name: 3-hydroxysebacate namespace: chebi_ontology def: "A dicarboxylic acid anion obtained by deprotonation of at least one of the carboxy groups of 3-hydroxysebacic acid." [] subset: 3_STAR synonym: "3-hydroxydecanedioate" RELATED [ChEBI] is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:132938 name: ethylmalonate namespace: chebi_ontology def: "A dicarboxylic acid anion obtained by deprotonation of at least one of the carboxy groups of ethylmalonic acid." [] subset: 3_STAR synonym: "ethylmalonate anion" RELATED [ChEBI] synonym: "ethylmalonic acid anion" RELATED [ChEBI] is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:132940 name: 1,3,7-trimethylurate namespace: chebi_ontology def: "An organic anion obtained by deprotonation of 1,3,7-trimethyluric acid." [] subset: 3_STAR synonym: "1,3,7-trimethylurate anion" RELATED [ChEBI] synonym: "1,3,7-trimethyluric acid anion" RELATED [ChEBI] is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:132948 name: pyridoxate namespace: chebi_ontology def: "A pyridinemonocarboxylate obtained by deprotonation of the carboxy group of any pyridoxic acid." [] subset: 3_STAR synonym: "pyridoxate anion" RELATED [ChEBI] synonym: "pyridoxate anions" RELATED [ChEBI] synonym: "pyridoxates" RELATED [ChEBI] synonym: "pyridoxic acid anion" RELATED [ChEBI] synonym: "pyridoxic acid anions" RELATED [ChEBI] is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:132951 name: maleate namespace: chebi_ontology def: "A dicarboxylic acid anion obtained by deprotonation of at least one of the carboxy groups of maleic acid." [] subset: 3_STAR synonym: "maleate anion" RELATED [ChEBI] synonym: "maleate anions" RELATED [ChEBI] synonym: "maleates" RELATED [ChEBI] synonym: "maleic acid anion" RELATED [ChEBI] synonym: "maleic acid anions" RELATED [ChEBI] is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:132961 name: methylsuccinate namespace: chebi_ontology def: "A dicarboxylic acid anion obtained by deprotonation of at least one of the carboxy groups of 3-methylsuccinic acid." [] subset: 3_STAR synonym: "2-methylbutanedioic acid anion" RELATED [ChEBI] synonym: "2-methylbutanedioic acid anions" RELATED [ChEBI] synonym: "methylsuccinate anion" RELATED [ChEBI] synonym: "methylsuccinates" RELATED [ChEBI] synonym: "methylsuccinic acid anion" RELATED [ChEBI] synonym: "methylsuccinic acid anions" RELATED [ChEBI] is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:133511 name: 3-hydroxyoctanoate namespace: chebi_ontology def: "A 3-hydroxy fatty acid anion that is the conjugate base of 3-hydroxyoctanoic acid, obtained by deprotonation of the carboxy group; major species at pH 7.3." [] subset: 3_STAR synonym: "3-hydroxycaprylate" RELATED [ChEBI] synonym: "3-hydroxyoctanoate" EXACT IUPAC_NAME [IUPAC] synonym: "beta-hydroxycaprylate" RELATED [ChEBI] synonym: "beta-hydroxyoctanoate" RELATED [ChEBI] is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H15O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H16O3/c1-2-3-4-5-7(9)6-8(10)11/h7,9H,2-6H2,1H3,(H,10,11)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NDPLAKGOSZHTPH-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "159.203" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "159.10267" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCC(CC(=O)[O-])O" xsd:string [Term] id: CHEBI:133513 name: 3-methylglutaconate anion namespace: chebi_ontology def: "A dicarboxylic anion obtained by deprotonation of at least one of the carboxy groups of 3-methylglutaconic acid." [] subset: 3_STAR synonym: "3-methylglutaconate anions" RELATED [ChEBI] is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:133514 name: 2-hydroxyoctanoate namespace: chebi_ontology def: "A 2-hydroxy fatty acid anion that is the conjugate base of 2-hydroxyoctanoic acid, obtained by deprotonation of the carboxy group; major species at pH 7.3." [] subset: 3_STAR synonym: "2-hydroxycaprylate" RELATED [ChEBI] synonym: "2-hydroxyoctanoate" EXACT [UniProt] synonym: "2-hydroxyoctanoate" EXACT IUPAC_NAME [IUPAC] synonym: "alpha-hydroxycaprylate" RELATED [ChEBI] synonym: "alpha-hydroxyoctanoate" RELATED [ChEBI] is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H15O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H16O3/c1-2-3-4-5-6-7(9)8(10)11/h7,9H,2-6H2,1H3,(H,10,11)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JKRDADVRIYVCCY-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "159.203" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "159.10267" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(CCCCCC)C([O-])=O" xsd:string [Term] id: CHEBI:133607 name: m-hydroxyhippurate namespace: chebi_ontology def: "A monocarboxylic acid anion that is the conjugate base of m-hydroxyhippuric acid, obtained by deprotonation of the carboxy group; major species at pH 7.3." [] subset: 3_STAR synonym: "(3-hydroxybenzamido)acetate" EXACT IUPAC_NAME [IUPAC] synonym: "3-hydroxyhippurate" RELATED [ChEBI] synonym: "meta-hydroxyhippurate" RELATED [ChEBI] synonym: "N-(3-hydroxybenzoyl)glycinate" RELATED [IUPAC] xref: Reaxys:25327110 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H8NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H9NO4/c11-7-3-1-2-6(4-7)9(14)10-5-8(12)13/h1-4,11H,5H2,(H,10,14)(H,12,13)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XDOFWFNMYJRHEW-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "194.164" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "194.04588" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC=1C=C(C(=O)NCC([O-])=O)C=CC1" xsd:string [Term] id: CHEBI:133613 name: p-hydroxyhippurate namespace: chebi_ontology def: "A monocarboxylic acid anion that is the conjugate base of p-hydroxyhippuric acid, obtained by deprotonation of the carboxy group; major species at pH 7.3." [] subset: 3_STAR synonym: "(4-hydroxybenzamido)acetate" EXACT IUPAC_NAME [IUPAC] synonym: "4-hydroxybenzoylglycinate" RELATED [ChEBI] synonym: "4-hydroxyhippurate" RELATED [ChEBI] synonym: "p--hydroxybenzoylglycinate" RELATED [ChEBI] xref: HMDB:HMDB0013678 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H8NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H9NO4/c11-7-3-1-6(2-4-7)9(14)10-5-8(12)13/h1-4,11H,5H2,(H,10,14)(H,12,13)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ZMHLUFWWWPBTIU-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "194.164" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "194.04588" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C=1C=C(C=CC1C(NCC([O-])=O)=O)O" xsd:string [Term] id: CHEBI:133628 name: undecanedioic acid anion namespace: chebi_ontology def: "A dicarboxylic acid anion obtained by deprotonation of at least one of the carboxy groups of undecanedioic acid." [] subset: 3_STAR synonym: "undecanedioic acid anions" RELATED [ChEBI] is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:133725 name: 1-methylurate anion namespace: chebi_ontology def: "An organic anion obtained by removal of at least one proton from 1-methyluric acid." [] subset: 3_STAR synonym: "1-methylurate anions" RELATED [ChEBI] is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:133726 name: 1,3-dimethylurate anion namespace: chebi_ontology def: "An organic anion obtained by removal of at least one proton from 1,3-dimethyluric acid." [] subset: 3_STAR synonym: "1,3-dimethylurate anions" RELATED [ChEBI] is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:133727 name: 1,7-dimethylurate anion namespace: chebi_ontology def: "An organic anion obtained by removal of at least one proton from 1,7-dimethyluric acid." [] subset: 3_STAR synonym: "1,7-dimethylurate anions" RELATED [ChEBI] is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:133728 name: 3,7-dimethylurate anion namespace: chebi_ontology def: "An organic anion obtained by removal of at least one proton from 3,7-dimethyluric acid." [] subset: 3_STAR synonym: "3,7-dimethylurate anions" RELATED [ChEBI] is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:133738 name: 2-hydroxyhexanoate namespace: chebi_ontology def: "A hydroxy fatty acid anion which is obtained by deprotonation of the carboxy group of 2-hydroxyhexanoic acid." [] subset: 3_STAR synonym: "2-hydroxycaproate" RELATED [ChEBI] synonym: "2-hydroxyhexanoate" EXACT IUPAC_NAME [IUPAC] synonym: "2-hydroxyhexanoate" EXACT [UniProt] synonym: "2-hydroxyhexanoic acid" RELATED [ChEBI] synonym: "alpha-hydroxycaproate" RELATED [ChEBI] synonym: "alpha-hydroxyhexanoate" RELATED [ChEBI] is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H11O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H12O3/c1-2-3-4-5(7)6(8)9/h5,7H,2-4H2,1H3,(H,8,9)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NYHNVHGFPZAZGA-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "131.150" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "131.07137" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(CCCC)C([O-])=O" xsd:string [Term] id: CHEBI:133792 name: erythronate namespace: chebi_ontology def: "A hydroxy monocarboxylic acid anion obtained by deprotonation of the carboxy group of any erythronic acid; major species at pH 7.3." [] subset: 3_STAR synonym: "erythronate anion" RELATED [ChEBI] synonym: "erythronate anions" RELATED [ChEBI] synonym: "erythronates" RELATED [ChEBI] is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:134112 name: triacylglycerol 60:12 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 60 carbons and 12 double bonds." [] subset: 3_STAR synonym: "TAG(60:12)" RELATED [ChEBI] synonym: "TG(60:12)" RELATED [ChEBI] synonym: "triacylglycerol(60:12)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C63H98O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "951.451" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "950.73634" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(C(OC(*)=O)COC(=O)*)OC(=O)*" xsd:string [Term] id: CHEBI:135752 name: tafenoquine namespace: chebi_ontology def: "A racemate comprising equimolar amounts of (R)- and (S)-tafenoquine." [] subset: 3_STAR synonym: "Arakoda" RELATED BRAND_NAME [ChEBI] synonym: "etaquine" RELATED [ChEBI] synonym: "Krintafel" RELATED BRAND_NAME [ChEBI] synonym: "rac-N(4)-{2,6-dimethoxy-4-methyl-5-[3-(trifluoromethyl)phenoxy]quinolin-8-yl}pentane-1,4-diamine" EXACT IUPAC_NAME [IUPAC] synonym: "tafenoquina" RELATED INN [WHO_MedNet] synonym: "tafenoquine" RELATED INN [ChemIDplus] synonym: "tafenoquine" RELATED INN [WHO_MedNet] synonym: "tafenoquinum" RELATED INN [ChEBI] synonym: "WR 238,605" RELATED [ChEBI] synonym: "WR238605" RELATED [ChEBI] xref: CAS:106635-80-7 {source="DrugCentral"} xref: CAS:106635-80-7 {source="ChemIDplus"} xref: Drug_Central:3578 {source="DrugCentral"} xref: DrugBank:DB06608 xref: KEGG:D10490 xref: PMID:23701202 {source="Europe PMC"} xref: PMID:25663384 {source="Europe PMC"} xref: PMID:25870069 {source="Europe PMC"} xref: PMID:25891812 {source="Europe PMC"} xref: PMID:25921416 {source="Europe PMC"} xref: PMID:26187807 {source="Europe PMC"} xref: PMID:26195527 {source="Europe PMC"} xref: PMID:26500351 {source="Europe PMC"} xref: PMID:26610844 {source="Europe PMC"} xref: PMID:26888075 {source="Europe PMC"} xref: PMID:27405118 {source="Europe PMC"} xref: PMID:27528800 {source="Europe PMC"} xref: PMID:27697758 {source="Europe PMC"} xref: PMID:27855400 {source="Europe PMC"} xref: PMID:28043395 {source="Europe PMC"} xref: PMID:28214869 {source="Europe PMC"} xref: PMID:28319724 {source="Europe PMC"} xref: PMID:28495354 {source="Europe PMC"} xref: PMID:28495355 {source="Europe PMC"} xref: PMID:28526056 {source="Europe PMC"} xref: PMID:28749773 {source="Europe PMC"} xref: PMID:29121061 {source="Europe PMC"} xref: PMID:29677199 {source="Europe PMC"} xref: PMID:29869298 {source="Europe PMC"} xref: Reaxys:6493037 {source="Reaxys"} xref: Wikipedia:Tafenoquine is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C24H28F3N3O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "463.494" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "463.20828" xsd:string [Term] id: CHEBI:135983 name: teriparatide namespace: chebi_ontology subset: 2_STAR synonym: "forsteo" RELATED [DrugCentral] synonym: "hPTH 1-34" RELATED [DrugCentral] synonym: "parathar" RELATED [DrugCentral] synonym: "teriparatide acetate" RELATED [DrugCentral] synonym: "teriparatide recombinant human" RELATED [DrugCentral] xref: CAS:52232-67-4 {source="DrugCentral"} xref: Drug_Central:4514 {source="DrugCentral"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C181H291N55O51S2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C181H291N55O51S2/c1-21-96(18)146(236-160(267)114(48-53-141(250)251)212-174(281)132(84-239)232-177(284)143(93(12)13)233-147(254)103(185)82-237)178(285)216-111(45-50-134(187)241)155(262)219-119(65-90(6)7)163(270)213-116(55-62-289-20)158(265)224-124(71-100-79-196-86-203-100)167(274)226-126(73-135(188)242)169(276)217-117(63-88(2)3)148(255)201-81-138(245)205-105(39-27-30-56-182)149(256)223-123(70-99-78-195-85-202-99)166(273)221-121(67-92(10)11)164(271)225-128(75-137(190)244)171(278)231-131(83-238)173(280)214-115(54-61-288-19)157(264)210-112(46-51-139(246)247)153(260)208-109(43-34-60-199-181(193)194)159(266)234-144(94(14)15)175(282)215-113(47-52-140(248)249)156(263)222-122(69-98-77-200-104-38-26-25-37-102(98)104)165(272)220-120(66-91(8)9)161(268)209-108(42-33-59-198-180(191)192)151(258)206-106(40-28-31-57-183)150(257)207-107(41-29-32-58-184)152(259)218-118(64-89(4)5)162(269)211-110(44-49-133(186)240)154(261)228-129(76-142(252)253)172(279)235-145(95(16)17)176(283)229-125(72-101-80-197-87-204-101)168(275)227-127(74-136(189)243)170(277)230-130(179(286)287)68-97-35-23-22-24-36-97/h22-26,35-38,77-80,85-96,103,105-132,143-146,200,237-239H,21,27-34,39-76,81-84,182-185H2,1-20H3,(H2,186,240)(H2,187,241)(H2,188,242)(H2,189,243)(H2,190,244)(H,195,202)(H,196,203)(H,197,204)(H,201,255)(H,205,245)(H,206,258)(H,207,257)(H,208,260)(H,209,268)(H,210,264)(H,211,269)(H,212,281)(H,213,270)(H,214,280)(H,215,282)(H,216,285)(H,217,276)(H,218,259)(H,219,262)(H,220,272)(H,221,273)(H,222,263)(H,223,256)(H,224,265)(H,225,271)(H,226,274)(H,227,275)(H,228,261)(H,229,283)(H,230,277)(H,231,278)(H,232,284)(H,233,254)(H,234,266)(H,235,279)(H,236,267)(H,246,247)(H,248,249)(H,250,251)(H,252,253)(H,286,287)(H4,191,192,198)(H4,193,194,199)/t96-,103-,105-,106-,107-,108-,109-,110-,111-,112-,113-,114-,115-,116-,117-,118-,119-,120-,121-,122-,123-,124-,125-,126-,127-,128-,129-,130-,131-,132-,143-,144-,145-,146-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OGBMKVWORPGQRR-UMXFMPSGSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "4117.724" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "4115.13094" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H]N[C@@H](CO)C(N[C@@H](C(C)C)C(N[C@@H](CO)C(N[C@@H](CCC(O)=O)C(N[C@@H]([C@H](CC)C)C(N[C@@H](CCC(N)=O)C(N[C@@H](CC(C)C)C(N[C@@H](CCSC)C(N[C@@H](CC1=CNC=N1)C(N[C@@H](CC(N)=O)C(N[C@@H](CC(C)C)C(NCC(N[C@@H](CCCCN)C(N[C@@H](CC2=CNC=N2)C(N[C@@H](CC(C)C)C(N[C@@H](CC(N)=O)C(N[C@@H](CO)C(N[C@@H](CCSC)C(N[C@@H](CCC(O)=O)C(N[C@@H](CCCNC(N)=N)C(N[C@@H](C(C)C)C(N[C@@H](CCC(O)=O)C(N[C@@H](CC3=CNC4=C3C=CC=C4)C(N[C@@H](CC(C)C)C(N[C@@H](CCCNC(N)=N)C(N[C@@H](CCCCN)C(N[C@@H](CCCCN)C(N[C@@H](CC(C)C)C(N[C@@H](CCC(N)=O)C(N[C@@H](CC(O)=O)C(N[C@@H](C(C)C)C(N[C@@H](CC5=CNC=N5)C(N[C@@H](CC(N)=O)C(N[C@@H](CC6=CC=CC=C6)C(O)=O)=O)=O)=O)=O)=O)=O)=O)=O)=O)=O)=O)=O)=O)=O)=O)=O)=O)=O)=O)=O)=O)=O)=O)=O)=O)=O)=O)=O)=O)=O)=O)=O)=O" xsd:string [Term] id: CHEBI:1367 name: 3,3',4,4'-tetrachlorobiphenyl namespace: chebi_ontology def: "A tetrachlorobiphenyl that is biphenyl in which the hydrogens at position 3 and 4 on each phenyl group are replaced by chlorines." [] subset: 3_STAR synonym: "3,3',4,4'-tetrachloro-1,1'-biphenyl" EXACT IUPAC_NAME [IUPAC] synonym: "3,4,3',4'-Tetra coplanar polychlorinated biphenyl" RELATED [ChemIDplus] synonym: "3,4,3',4'-Tetrachlorobiphenyl" RELATED [KEGG_COMPOUND] synonym: "PCB 77" RELATED [KEGG_COMPOUND] xref: Beilstein:2051251 {source="Beilstein"} xref: CAS:32598-13-3 {source="NIST Chemistry WebBook"} xref: CAS:32598-13-3 {source="ChemIDplus"} xref: CAS:32598-13-3 {source="KEGG COMPOUND"} xref: KEGG:C11057 is_a: CHEBI:35446 ! chlorobiphenyl property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12H6Cl4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C12H6Cl4/c13-9-3-1-7(5-11(9)15)8-2-4-10(14)12(16)6-8/h1-6H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UQMGJOKDKOLIDP-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "291.98684" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "289.92236" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Clc1ccc(cc1Cl)-c1ccc(Cl)c(Cl)c1" xsd:string [Term] id: CHEBI:13705 name: acetoacetate namespace: chebi_ontology def: "A 3-oxo monocarboxylic acid anion that is the conjugate base of acetoacetic acid, arising from deprotonation of the carboxy group." [] subset: 3_STAR synonym: "3-oxobutanoate" EXACT IUPAC_NAME [IUPAC] synonym: "Acetoacetate" EXACT [KEGG_COMPOUND] synonym: "acetoacetate" EXACT [UniProt] synonym: "Acetoacetate ion(1-)" RELATED [ChemIDplus] synonym: "Butanoic acid, 3-oxo-, ion(1-)" RELATED [ChemIDplus] xref: Beilstein:4128534 {source="Beilstein"} xref: CAS:141-81-1 {source="ChemIDplus"} xref: KEGG:C00164 xref: MeSH:D003181 xref: MetaCyc:3-KETOBUTYRATE xref: NCIt:C70618 xref: Reaxys:4128534 {source="Reaxys"} xref: SNOMEDCT:115377001 xref: UM-BBD_compID:c0069 {source="UM-BBD"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H5O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H6O3/c1-3(5)2-4(6)7/h2H2,1H3,(H,6,7)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WDJHALXBUFZDSR-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "101.08070" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "101.02442" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(=O)CC([O-])=O" xsd:string [Term] id: CHEBI:137137 name: (5Z,7E)-(3S)-26,26,26-trifluoro-27-nor-9,10-seco-5,7,10(19)-cholestatriene-3,25-diol namespace: chebi_ontology subset: 2_STAR synonym: "26,26,26-trifluoro-25-hydroxy-27-norcholecalciferol" RELATED [LIPID_MAPS] synonym: "26,26,26-trifluoro-25-hydroxy-27-norvitamin D3" RELATED [LIPID_MAPS] xref: LIPID_MAPS_instance:LMST03020024 {source="LIPID MAPS"} is_a: CHEBI:27300 ! vitamin D property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C26H39F3O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C26H39F3O2/c1-17-9-12-21(30)16-20(17)11-10-19-7-5-15-25(3)22(13-14-23(19)25)18(2)6-4-8-24(31)26(27,28)29/h10-11,18,21-24,30-31H,1,4-9,12-16H2,2-3H3/b19-10+,20-11-/t18-,21+,22-,23+,24?,25-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QZGLVEKNRHZOIB-PXKDVQFDSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "440.583" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "440.29021" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C1C[C@@H](C/C(=C/C=C/2\\CCC[C@]3([C@]2(CC[C@]3([H])[C@](CCCC(C(F)(F)F)O)([H])C)[H])C)/C1=C)O" xsd:string [Term] id: CHEBI:137149 name: 1-(8-[3]-ladderane-octanoyl)-2-(8-[3]-ladderane-octanyl)-sn-glycerol namespace: chebi_ontology subset: 2_STAR xref: LIPID_MAPS_instance:LMGL02070009 {source="LIPID MAPS"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C43H70O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C43H70O4/c44-26-30(46-23-11-7-2-1-4-8-12-28-15-17-35-37(24-28)42-33-21-19-31(33)40(35)42)27-47-39(45)14-10-6-3-5-9-13-29-16-18-36-38(25-29)43-34-22-20-32(34)41(36)43/h28-38,40-44H,1-27H2/t28?,29?,30-,31?,32?,33?,34?,35?,36?,37?,38?,40?,41?,42?,43?/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VTPPEKJIOCUENB-MXXMPYRZSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "651.015" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "650.52741" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC[C@](COC(CCCCCCCC1CCC2C(C1)C3C2C4C3CC4)=O)([H])OCCCCCCCCC5CCC6C(C5)C7C6C8C7CC8" xsd:string [Term] id: CHEBI:137552 name: CE(16:1) namespace: chebi_ontology subset: 2_STAR synonym: "CE 16:1" RELATED [ChEBI] synonym: "ChE 16:1" RELATED [ChEBI] synonym: "cholesterol ester 16:1" RELATED [ChEBI] synonym: "cholesterol ester(16:1)" RELATED [ChEBI] is_a: CHEBI:17002 ! cholesteryl ester property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C43H74O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "413.657" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "622.56888" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C1[C@@]2([C@]3(CC[C@]4([C@]([C@@]3(CC=C2C[C@H](C1)OC(=O)*)[H])(CC[C@@]4([C@H](C)CCCC(C)C)[H])[H])C)[H])C" xsd:string [Term] id: CHEBI:137682 name: methylhistidine namespace: chebi_ontology subset: 2_STAR synonym: "methylhistidines" RELATED [ChEBI] is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:138331 name: cholesteryl icosatrienoate namespace: chebi_ontology subset: 2_STAR synonym: "CE(20:3)" RELATED [ChEBI] is_a: CHEBI:17002 ! cholesteryl ester property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C47H78O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "413.657" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "674.60018" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C1[C@@]2([C@]3(CC[C@]4([C@]([C@@]3(CC=C2C[C@H](C1)OC(=O)*)[H])(CC[C@@]4([C@H](C)CCCC(C)C)[H])[H])C)[H])C" xsd:string [Term] id: CHEBI:138346 name: triacylglycerol 54:9 namespace: chebi_ontology subset: 2_STAR synonym: "TAG(54:9)" RELATED [ChEBI] synonym: "TG(54:9)" RELATED [ChEBI] synonym: "triacylglycerol(54:9)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C57H92O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "173.101" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "872.68939" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(C(OC(*)=O)COC(=O)*)OC(=O)*" xsd:string [Term] id: CHEBI:142420 name: 2-aminooctanoate namespace: chebi_ontology def: "An alpha-amino-acid anion that is the conjugate base of 2-aminooctanoic acid, arising from deprotonation of the carboxy group." [] subset: 3_STAR synonym: "2-aminooctanoate" EXACT IUPAC_NAME [IUPAC] is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H16NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H17NO2/c1-2-3-4-5-6-7(9)8(10)11/h7H,2-6,9H2,1H3,(H,10,11)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "AKVBCGQVQXPRLD-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "158.218" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "158.11865" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(=O)([O-])C(CCCCCC)N" xsd:string [Term] id: CHEBI:143615 name: sphingomyelin 14:0 namespace: chebi_ontology def: "A sphingomyelin in which the total number of carbons in the sphingoid base and fatty acyl groups is 14 with 0 double bonds." [] subset: 3_STAR synonym: "SM 14:0" RELATED [ChEBI] synonym: "SM(14:0)" RELATED [ChEBI] synonym: "sphingomyelin(14:0)" RELATED [ChEBI] is_a: CHEBI:64583 ! sphingomyelin property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H41N2O6P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "424.5124" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "424.27022" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "*[C@@H](O)[C@@H](NC(=O)*)COP(OCC[N+](C)(C)C)(=O)[O-]" xsd:string [Term] id: CHEBI:143616 name: sphingomyelin 16:1 namespace: chebi_ontology def: "A sphingomyelin in which the total number of carbons in the sphingoid base and fatty acyl groups is 16 with 1 double bond." [] subset: 3_STAR synonym: "SM 16:1" RELATED [ChEBI] synonym: "SM(16:1)" RELATED [ChEBI] synonym: "sphingomyelin(16:1)" RELATED [ChEBI] is_a: CHEBI:64583 ! sphingomyelin property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C21H43N2O6P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "450.5497" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "450.28587" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "*[C@@H](O)[C@@H](NC(=O)*)COP(OCC[N+](C)(C)C)(=O)[O-]" xsd:string [Term] id: CHEBI:143617 name: sphingomyelin 18:0 namespace: chebi_ontology def: "A sphingomyelin in which the total number of carbons in the sphingoid base and fatty acyl groups is 18 with 0 double bonds." [] subset: 3_STAR synonym: "SM 18:0" RELATED [ChEBI] synonym: "SM(18:0)" RELATED [ChEBI] synonym: "sphingomyelin(18:0)" RELATED [ChEBI] is_a: CHEBI:64583 ! sphingomyelin property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C23H49N2O6P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "480.6187" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "480.33282" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "*[C@@H](O)[C@@H](NC(=O)*)COP(OCC[N+](C)(C)C)(=O)[O-]" xsd:string [Term] id: CHEBI:143618 name: sphingomyelin 18:1 namespace: chebi_ontology def: "A sphingomyelin in which the total number of carbons in the sphingoid base and fatty acyl groups is 18 with 1 double bond." [] subset: 3_STAR synonym: "SM 18:1" RELATED [ChEBI] synonym: "SM(18:1)" RELATED [ChEBI] synonym: "sphingomyelin(18:1)" RELATED [ChEBI] is_a: CHEBI:64583 ! sphingomyelin property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C23H47N2O6P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "478.6028" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "478.31717" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "*[C@@H](O)[C@@H](NC(=O)*)COP(OCC[N+](C)(C)C)(=O)[O-]" xsd:string [Term] id: CHEBI:143619 name: triacylglycerol 58:12 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 58 carbons and 12 double bonds." [] subset: 3_STAR synonym: "TAG(58:12)" RELATED [ChEBI] synonym: "TG(58:12)" RELATED [ChEBI] synonym: "triacylglycerol(58:12)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C61H94O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "923.3955" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "922.70504" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(C(OC(*)=O)COC(=O)*)OC(=O)*" xsd:string [Term] id: CHEBI:145072 name: campesterol 3-beta-D-glucoside namespace: chebi_ontology def: "A sterol 3-beta-D-glucoside resulting from the formal condensation of the hydroxy group of campesterol with beta-D-glucopyranose. Found in cloves, common wheat, and peaches." [] subset: 3_STAR synonym: "(24R)-ergost-5-en-3beta-yl beta-D-glucopyranoside" EXACT IUPAC_NAME [IUPAC] synonym: "(3beta)-campest-5-en-3-yl D-glucopyranoside" RELATED [LIPID_MAPS] synonym: "3-O-(beta-D-glucopyranosyl)-campest-5-en-3beta-ol" RELATED [ChEBI] synonym: "campest-5-en-3beta-yl D-glucopyranoside" RELATED [LIPID_MAPS] synonym: "campesterol beta-D-glucoside" RELATED [ChEBI] synonym: "campesteryl 3-beta-D-glucoside" RELATED [UniProt] synonym: "campesteryl beta-D-glucoside" RELATED [ChEBI] synonym: "campesteryl glucoside" RELATED [ChEBI] xref: CAS:32214-82-7 {source="FooDB"} xref: FooDB:FDB021715 xref: LIPID_MAPS_instance:LMST01031126 {source="LIPID MAPS"} xref: PMID:23463370 {source="Europe PMC"} xref: PMID:25575593 {source="Europe PMC"} xref: PMID:26643965 {source="Europe PMC"} xref: PMID:28649260 {source="SUBMITTER"} is_a: CHEBI:35341 ! steroid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C34H58O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C34H58O6/c1-19(2)20(3)7-8-21(4)25-11-12-26-24-10-9-22-17-23(13-15-33(22,5)27(24)14-16-34(25,26)6)39-32-31(38)30(37)29(36)28(18-35)40-32/h9,19-21,23-32,35-38H,7-8,10-18H2,1-6H3/t20-,21-,23+,24+,25-,26+,27+,28-,29-,30+,31-,32-,33+,34-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FWNZEKQVBDXWKA-NYENXMMQSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "562.832" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "562.42334" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C@@]12([C@@]([C@@]3(C(C[C@@H](O[C@@H]4O[C@@H]([C@@H](O)[C@@H]([C@H]4O)O)CO)CC3)=CC1)C)(CC[C@@]5(C)[C@@]2([H])CC[C@@]5([C@@H](CC[C@H](C(C)C)C)C)[H])[H])[H]" xsd:string [Term] id: CHEBI:146162 name: palmitoleamide namespace: chebi_ontology def: "A primary fatty amide resulting from the formal condensation of the carboxy group of (9Z)-hexadecenoic acid with ammonia." [] subset: 3_STAR synonym: "(9Z)-9-hexadecenamide" RELATED [ChEBI] synonym: "(9Z)-hexadec-9-enamide" EXACT IUPAC_NAME [IUPAC] synonym: "(9Z)-hexadecenamide" RELATED [UniProt] synonym: "(Z)-9-hexadecenamide" RELATED [ChEBI] synonym: "(Z)-hexadec-9-enamide" RELATED [ChEBI] xref: CAS:106010-22-4 {source="ChEBI"} xref: LIPID_MAPS_instance:LMFA08010010 {source="LIPID MAPS"} xref: PMID:11128635 {source="SUBMITTER"} xref: PMID:22095832 {source="Europe PMC"} xref: PMID:25693860 {source="Europe PMC"} xref: PMID:25856314 {source="Europe PMC"} xref: PMID:26044516 {source="Europe PMC"} xref: PMID:29627605 {source="Europe PMC"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C16H31NO" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C16H31NO/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16(17)18/h7-8H,2-6,9-15H2,1H3,(H2,17,18)/b8-7-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YRPQTVNCCVPGFA-FPLPWBNLSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "253.430" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "253.24056" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(CCCCCCC/C=C\\CCCCCC)(=O)N" xsd:string [Term] id: CHEBI:15075 name: selenate namespace: chebi_ontology def: "A divalent inorganic anion obtained by removal of both protons from selenic acid." [] subset: 3_STAR synonym: "[SeO4](2-)" RELATED [IUPAC] synonym: "Selenate" EXACT [ChemIDplus] synonym: "selenate" EXACT IUPAC_NAME [IUPAC] synonym: "selenate" EXACT [UniProt] synonym: "SELENATE ION" RELATED [PDBeChem] synonym: "tetraoxidoselenate(2-)" EXACT IUPAC_NAME [IUPAC] xref: CAS:14124-68-6 {source="ChemIDplus"} xref: PDBeChem:SE4 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "O4Se" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/H2O4Se/c1-5(2,3)4/h(H2,1,2,3,4)/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QYHFIVBSNOWOCQ-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "142.95760" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "143.89728" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-][Se]([O-])(=O)=O" xsd:string [Term] id: CHEBI:15193 name: tartrate(2-) namespace: chebi_ontology subset: 3_STAR synonym: "rel-(2R,3R)-2,3-dihydroxybutanedioate" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:5740673 {source="Beilstein"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H4O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "148.07096" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "148.00079" xsd:string [Term] id: CHEBI:15243 name: threonate namespace: chebi_ontology def: "A 2,3,4-trihydroxybutanoate that is the conjugate base of threonic acid." [] subset: 3_STAR is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H7O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "135.096" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "135.02935" xsd:string [Term] id: CHEBI:15318 name: xanthine namespace: chebi_ontology def: "A purine nucleobase found in humans and other organisms." [] subset: 3_STAR synonym: "2,6-dioxopurine" RELATED [ChEBI] synonym: "2,6-dioxopurines" RELATED [ChEBI] synonym: "xanthine" EXACT [ChEBI] synonym: "xanthines" RELATED [ChEBI] xref: ECMDB:ECMDB00292 xref: KNApSAcK:C00019660 xref: PMID:1557408 {source="Europe PMC"} xref: PMID:24629268 {source="Europe PMC"} xref: PMID:9007687 {source="Europe PMC"} xref: YMDB:YMDB00263 is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H4N4O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "152.111" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "152.03343" xsd:string [Term] id: CHEBI:15343 name: acetaldehyde namespace: chebi_ontology alt_id: CHEBI:13703 alt_id: CHEBI:22158 alt_id: CHEBI:2383 alt_id: CHEBI:40533 def: "The aldehyde formed from acetic acid by reduction of the carboxy group. It is the most abundant carcinogen in tobacco smoke." [] subset: 3_STAR synonym: "Acetaldehyd" RELATED [NIST_Chemistry_WebBook] synonym: "ACETALDEHYDE" EXACT [PDBeChem] synonym: "Acetaldehyde" EXACT [KEGG_COMPOUND] synonym: "acetaldehyde" EXACT [UniProt] synonym: "acetaldehyde" EXACT IUPAC_NAME [IUPAC] synonym: "acetaldehydes" RELATED [ChEBI] synonym: "acetic aldehyde" RELATED [NIST_Chemistry_WebBook] synonym: "Azetaldehyd" RELATED [ChEBI] synonym: "Ethanal" RELATED [KEGG_COMPOUND] synonym: "ethyl aldehyde" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:505984 {source="Beilstein"} xref: CAS:75-07-0 {source="NIST Chemistry WebBook"} xref: CAS:75-07-0 {source="ChemIDplus"} xref: CAS:75-07-0 {source="KEGG COMPOUND"} xref: Gmelin:779 {source="Gmelin"} xref: HMDB:HMDB0000990 xref: KEGG:C00084 xref: KNApSAcK:C00007392 xref: LINCS:LSM-37193 xref: PDBeChem:ACE xref: PMID:11058591 {source="Europe PMC"} xref: PMID:110589 {source="Europe PMC"} xref: PMID:11087437 {source="Europe PMC"} xref: PMID:11290854 {source="Europe PMC"} xref: PMID:15239123 {source="Europe PMC"} xref: PMID:15833031 {source="Europe PMC"} xref: PMID:16404561 {source="Europe PMC"} xref: PMID:16485909 {source="Europe PMC"} xref: PMID:18001279 {source="Europe PMC"} xref: PMID:19396661 {source="Europe PMC"} xref: PMID:2233695 {source="Europe PMC"} xref: PMID:24282063 {source="Europe PMC"} xref: PMID:24326678 {source="Europe PMC"} xref: PMID:24503565 {source="Europe PMC"} xref: PMID:4239189 {source="Europe PMC"} xref: PMID:5526694 {source="Europe PMC"} xref: PMID:6036728 {source="Europe PMC"} xref: PMID:7163973 {source="Europe PMC"} xref: PMID:9171333 {source="Europe PMC"} xref: Reaxys:505984 {source="Reaxys"} xref: UM-BBD_compID:c0160 {source="UM-BBD"} xref: Wikipedia:Acetaldehyde is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C2H4O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C2H4O/c1-2-3/h2H,1H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IKHGUXGNUITLKF-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "44.05256" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "44.02621" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H]C(C)=O" xsd:string [Term] id: CHEBI:15347 name: acetone namespace: chebi_ontology alt_id: CHEBI:13708 alt_id: CHEBI:22182 alt_id: CHEBI:2398 alt_id: CHEBI:40571 def: "A methyl ketone that consists of propane bearing an oxo group at C2." [] subset: 3_STAR synonym: "2-Propanone" RELATED [KEGG_COMPOUND] synonym: "Aceton" RELATED [ChemIDplus] synonym: "ACETONE" EXACT [PDBeChem] synonym: "Acetone" EXACT [KEGG_COMPOUND] synonym: "acetone" EXACT [ChEBI] synonym: "acetone" EXACT [UniProt] synonym: "Azeton" RELATED [ChEBI] synonym: "beta-Ketopropane" RELATED [HMDB] synonym: "Dimethyl ketone" RELATED [KEGG_COMPOUND] synonym: "dimethylcetone" RELATED [ChEBI] synonym: "Dimethylketon" RELATED [ChEBI] synonym: "dimethylketone" RELATED [MetaCyc] synonym: "methyl ketone" RELATED [ChemIDplus] synonym: "propan-2-one" EXACT IUPAC_NAME [IUPAC] synonym: "Propanon" RELATED [ChEBI] synonym: "propanone" RELATED [ChemIDplus] synonym: "Pyroacetic ether" RELATED [HMDB] xref: Beilstein:635680 {source="Beilstein"} xref: CAS:67-64-1 {source="NIST Chemistry WebBook"} xref: CAS:67-64-1 {source="ChemIDplus"} xref: CAS:67-64-1 {source="KEGG COMPOUND"} xref: Gmelin:1466 {source="Gmelin"} xref: HMDB:HMDB0001659 xref: KEGG:C00207 xref: KEGG:D02311 xref: LIPID_MAPS_instance:LMFA12000057 {source="LIPID MAPS"} xref: MetaCyc:ACETONE xref: PDBeChem:ACN xref: PMID:17190852 {source="Europe PMC"} xref: PMID:17347819 {source="Europe PMC"} xref: Reaxys:635680 {source="Reaxys"} xref: UM-BBD_compID:c0556 {source="UM-BBD"} xref: Wikipedia:Acetone is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H6O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H6O/c1-3(2)4/h1-2H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CSCPPACGZOOCGX-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "58.07914" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "58.04186" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)=O" xsd:string [Term] id: CHEBI:15354 name: choline namespace: chebi_ontology alt_id: CHEBI:13985 alt_id: CHEBI:23212 alt_id: CHEBI:3665 alt_id: CHEBI:41524 def: "A choline that is the parent compound of the cholines class, consisting of ethanolamine having three methyl substituents attached to the amino function." [] subset: 3_STAR synonym: "2-hydroxy-N,N,N-trimethylethanaminium" EXACT IUPAC_NAME [IUPAC] synonym: "Bilineurine" RELATED [KEGG_COMPOUND] synonym: "Choline" EXACT [KEGG_COMPOUND] synonym: "choline" EXACT [UniProt] synonym: "CHOLINE ION" RELATED [PDBeChem] synonym: "N,N,N-trimethylethanol-ammonium" RELATED [ChEBI] synonym: "N-trimethylethanolamine" RELATED [ChEBI] synonym: "trimethylethanolamine" RELATED [ChEBI] xref: Beilstein:1736748 {source="Beilstein"} xref: CAS:62-49-7 {source="ChemIDplus"} xref: CAS:62-49-7 {source="KEGG COMPOUND"} xref: Drug_Central:3097 {source="DrugCentral"} xref: DrugBank:DB00122 xref: ECMDB:ECMDB00097 xref: Gmelin:324597 {source="Gmelin"} xref: HMDB:HMDB0000097 xref: KEGG:C00114 xref: KEGG:D07690 xref: KNApSAcK:C00007298 xref: MetaCyc:CHOLINE xref: PDBeChem:CHT xref: PMID:10930630 {source="Europe PMC"} xref: PMID:12826235 {source="Europe PMC"} xref: PMID:12946691 {source="Europe PMC"} xref: PMID:14972364 {source="Europe PMC"} xref: PMID:16210714 {source="Europe PMC"} xref: PMID:17087106 {source="Europe PMC"} xref: PMID:17283071 {source="Europe PMC"} xref: PMID:17344490 {source="Europe PMC"} xref: PMID:18204095 {source="Europe PMC"} xref: PMID:18230680 {source="Europe PMC"} xref: PMID:18786517 {source="Europe PMC"} xref: PMID:18786520 {source="Europe PMC"} xref: PMID:19246089 {source="Europe PMC"} xref: PMID:20038853 {source="Europe PMC"} xref: PMID:20446114 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: PMID:22961562 {source="Europe PMC"} xref: PMID:23095202 {source="Europe PMC"} xref: PMID:23616508 {source="Europe PMC"} xref: PMID:23637565 {source="Europe PMC"} xref: PMID:23733158 {source="Europe PMC"} xref: PMID:6420466 {source="Europe PMC"} xref: PMID:7590654 {source="Europe PMC"} xref: PMID:9517478 {source="Europe PMC"} xref: Reaxys:1736748 {source="Reaxys"} xref: Wikipedia:Choline xref: YMDB:YMDB00227 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "+1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H14NO" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H14NO/c1-6(2,3)4-5-7/h7H,4-5H2,1-3H3/q+1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OEYIOHPDSNJKLS-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "104.17080" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "104.10699" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[N+](C)(C)CCO" xsd:string [Term] id: CHEBI:15361 name: pyruvate namespace: chebi_ontology alt_id: CHEBI:14987 alt_id: CHEBI:26462 def: "A 2-oxo monocarboxylic acid anion that is the conjugate base of pyruvic acid, arising from deprotonation of the carboxy group." [] subset: 3_STAR synonym: "2-oxopropanoate" EXACT IUPAC_NAME [IUPAC] synonym: "2-oxopropanoate" RELATED [ChEBI] synonym: "2-oxopropanoic acid, ion(1-)" RELATED [ChemIDplus] synonym: "pyruvate" EXACT [UniProt] xref: Beilstein:3587721 {source="Beilstein"} xref: CAS:57-60-3 {source="ChemIDplus"} xref: Gmelin:2502 {source="Gmelin"} xref: KEGG:C00022 xref: PMID:17190852 {source="Europe PMC"} xref: PMID:21603897 {source="Europe PMC"} xref: PMID:21823181 {source="Europe PMC"} xref: PMID:21854850 {source="Europe PMC"} xref: PMID:22006570 {source="Europe PMC"} xref: PMID:22016370 {source="Europe PMC"} xref: PMID:22215378 {source="Europe PMC"} xref: PMID:22311625 {source="Europe PMC"} xref: PMID:22451307 {source="Europe PMC"} xref: PMID:22458763 {source="Europe PMC"} xref: Reaxys:3587721 {source="Reaxys"} xref: UM-BBD_compID:c0159 {source="UM-BBD"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H3O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H4O3/c1-2(4)3(5)6/h1H3,(H,5,6)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LCTONWCANYUPML-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "87.05412" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "87.00877" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(=O)C([O-])=O" xsd:string [Term] id: CHEBI:15365 name: acetylsalicylic acid namespace: chebi_ontology alt_id: CHEBI:22188 alt_id: CHEBI:22203 alt_id: CHEBI:2890 alt_id: CHEBI:40705 alt_id: CHEBI:71414 def: "A member of the class of benzoic acids that is salicylic acid in which the hydrogen that is attached to the phenolic hydroxy group has been replaced by an acetoxy group. A non-steroidal anti-inflammatory drug with cyclooxygenase inhibitor activity." [] subset: 3_STAR synonym: "2-(ACETYLOXY)BENZOIC ACID" RELATED [PDBeChem] synonym: "2-(acetyloxy)benzoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "2-Acetoxybenzenecarboxylic acid" RELATED [KEGG_COMPOUND] synonym: "2-acetoxybenzoic acid" RELATED [ChemIDplus] synonym: "Acetylsalicylate" RELATED [KEGG_COMPOUND] synonym: "Acetylsalicylic acid" EXACT [KEGG_COMPOUND] synonym: "Acetylsalicylsaeure" RELATED [ChemIDplus] synonym: "acide 2-(acetyloxy)benzoique" RELATED [IUPAC] synonym: "acide acetylsalicylique" RELATED INN [ChemIDplus] synonym: "acido acetilsalicilico" RELATED INN [NIST_Chemistry_WebBook] synonym: "acidum acetylsalicylicum" RELATED INN [NIST_Chemistry_WebBook] synonym: "ASA" RELATED [ChemIDplus] synonym: "Aspirin" RELATED [KEGG_COMPOUND] synonym: "Azetylsalizylsaeure" RELATED [ChEBI] synonym: "Easprin" RELATED BRAND_NAME [KEGG_DRUG] synonym: "o-acetoxybenzoic acid" RELATED [NIST_Chemistry_WebBook] synonym: "O-acetylsalicylic acid" RELATED [ChemIDplus] synonym: "o-carboxyphenyl acetate" RELATED [NIST_Chemistry_WebBook] synonym: "salicylic acid acetate" RELATED [ChemIDplus] xref: Beilstein:779271 {source="Beilstein"} xref: CAS:50-78-2 {source="ChemIDplus"} xref: CAS:50-78-2 {source="NIST Chemistry WebBook"} xref: CAS:50-78-2 {source="KEGG COMPOUND"} xref: ChEMBL:101280 xref: ChemIDplus:50-78-2 xref: CiteXplore:11402787 xref: CiteXplore:11597554 xref: CiteXplore:11733186 xref: CiteXplore:12852484 xref: CiteXplore:14753751 xref: CiteXplore:15542410 xref: CiteXplore:15590729 xref: CiteXplore:1650428 xref: CiteXplore:18226435 xref: CiteXplore:18335236 xref: CiteXplore:19386367 xref: CiteXplore:19706045 xref: CiteXplore:21699808 xref: CiteXplore:445303 xref: Drug_Central:74 {source="DrugCentral"} xref: DrugBank:DB00945 xref: Gmelin:218864 {source="Gmelin"} xref: HMDB:HMDB0001879 xref: KEGG COMPOUND:50-78-2 xref: KEGG COMPOUND:C01405 xref: KEGG DRUG:D00109 xref: KEGG:C01405 xref: KEGG:D00109 xref: LINCS:LSM-5288 xref: MeSH:D001241 xref: MetaCyc:CPD-524 xref: NCIt:C287 xref: NIST Chemistry WebBook:50-78-2 xref: PDBeChem:AIN xref: PMID:11203441 {source="Europe PMC"} xref: PMID:11402787 {source="Europe PMC"} xref: PMID:11597554 {source="Europe PMC"} xref: PMID:11733186 {source="Europe PMC"} xref: PMID:12852484 {source="Europe PMC"} xref: PMID:14753751 {source="Europe PMC"} xref: PMID:15542410 {source="Europe PMC"} xref: PMID:15590729 {source="Europe PMC"} xref: PMID:1650428 {source="Europe PMC"} xref: PMID:18226435 {source="Europe PMC"} xref: PMID:18335236 {source="Europe PMC"} xref: PMID:18631321 {source="Europe PMC"} xref: PMID:19010312 {source="Europe PMC"} xref: PMID:19386367 {source="Europe PMC"} xref: PMID:19706045 {source="Europe PMC"} xref: PMID:21699808 {source="Europe PMC"} xref: PMID:22866967 {source="Europe PMC"} xref: PMID:445303 {source="Europe PMC"} xref: Reaxys:779271 {source="Reaxys"} xref: SNOMEDCT:387458008 xref: SNOMEDCT:7947003 xref: Wikipedia:Aspirin is_a: EFO:0004416 ! acid relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H8O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H8O4/c1-6(10)13-8-5-3-2-4-7(8)9(11)12/h2-5H,1H3,(H,11,12)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BSYNRYMUTXBXSQ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "180.15740" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "180.04226" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(=O)Oc1ccccc1C(O)=O" xsd:string [Term] id: CHEBI:15366 name: acetic acid namespace: chebi_ontology alt_id: CHEBI:22169 alt_id: CHEBI:2387 alt_id: CHEBI:40486 def: "A simple monocarboxylic acid containing two carbons." [] subset: 3_STAR synonym: "ACETIC ACID" EXACT [PDBeChem] synonym: "Acetic acid" EXACT [KEGG_COMPOUND] synonym: "acetic acid" EXACT IUPAC_NAME [IUPAC] synonym: "acide acetique" RELATED [ChemIDplus] synonym: "AcOH" RELATED [ChEBI] synonym: "CH3-COOH" RELATED [IUPAC] synonym: "CH3CO2H" RELATED [ChEBI] synonym: "E 260" RELATED [ChEBI] synonym: "E-260" RELATED [ChEBI] synonym: "E260" RELATED [ChEBI] synonym: "Essigsaeure" RELATED [ChEBI] synonym: "Ethanoic acid" RELATED [KEGG_COMPOUND] synonym: "ethoic acid" RELATED [ChEBI] synonym: "Ethylic acid" RELATED [ChemIDplus] synonym: "HOAc" RELATED [ChEBI] synonym: "INS No. 260" RELATED [ChEBI] synonym: "MeCO2H" RELATED [ChEBI] synonym: "MeCOOH" RELATED [ChEBI] synonym: "Methanecarboxylic acid" RELATED [ChemIDplus] xref: Beilstein:506007 {source="Beilstein"} xref: CAS:64-19-7 {source="ChemIDplus"} xref: CAS:64-19-7 {source="NIST Chemistry WebBook"} xref: CAS:64-19-7 {source="KEGG COMPOUND"} xref: Drug_Central:4211 {source="DrugCentral"} xref: Gmelin:1380 {source="Gmelin"} xref: HMDB:HMDB0000042 xref: KEGG:C00033 xref: KEGG:D00010 xref: KNApSAcK:C00001176 xref: LIPID_MAPS_instance:LMFA01010002 {source="LIPID MAPS"} xref: MeSH:D019342 xref: MetaCyc:ACET xref: NCIt:C61623 xref: PDBeChem:ACT xref: PDBeChem:ACY xref: PMID:12005138 {source="Europe PMC"} xref: PMID:15107950 {source="Europe PMC"} xref: PMID:16630552 {source="Europe PMC"} xref: PMID:16774200 {source="Europe PMC"} xref: PMID:17190852 {source="Europe PMC"} xref: PMID:19416101 {source="Europe PMC"} xref: PMID:19469536 {source="Europe PMC"} xref: PMID:22153255 {source="Europe PMC"} xref: PMID:22173419 {source="Europe PMC"} xref: PPDB:1333 xref: Reaxys:506007 {source="Reaxys"} xref: SNOMEDCT:2869004 xref: Wikipedia:Acetic_acid is_a: EFO:0004416 ! acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C2H4O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C2H4O2/c1-2(3)4/h1H3,(H,3,4)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QTBSBXVTEAMEQO-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "60.05200" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "60.02113" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(O)=O" xsd:string [Term] id: CHEBI:15367 name: all-trans-retinoic acid namespace: chebi_ontology alt_id: CHEBI:45376 alt_id: CHEBI:8815 def: "A retinoic acid in which all four exocyclic double bonds have E- (trans-) geometry." [] subset: 3_STAR synonym: "(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethyl-1-cyclohexenyl)nona-2,4,6,8-tetraenoic acid" RELATED [ChEBI] synonym: "(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "(all-E)-3,7-dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid" RELATED [KEGG_COMPOUND] synonym: "3,7-dimethyl-9-(2,6,6-trimethyl-1-cyclohexene-1-yl)-2,4,6,8-nonatetraenoic acid" RELATED [KEGG_COMPOUND] synonym: "3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-enyl)nona-2,4,6,8-all-trans-tetraenoic acid" RELATED [ChemIDplus] synonym: "3,7-dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2E,4E,6E,8E-tetraenoic acid" RELATED [LIPID_MAPS] synonym: "Acide retinoique (French)" RELATED [KEGG_COMPOUND] synonym: "AGN 100335" RELATED [KEGG_COMPOUND] synonym: "all-(E)-retinoic acid" RELATED [KEGG_COMPOUND] synonym: "all-trans retinoic acid" RELATED [ChemIDplus] synonym: "all-trans-beta-Retinoic acid" RELATED [KEGG_COMPOUND] synonym: "all-trans-retinoic acid" EXACT [KEGG_COMPOUND] synonym: "all-trans-tretinoin" RELATED [KEGG_COMPOUND] synonym: "all-trans-vitamin A acid" RELATED [KEGG_COMPOUND] synonym: "all-trans-vitamin A1 acid" RELATED [KEGG_COMPOUND] synonym: "Altreno" RELATED BRAND_NAME [DrugBank] synonym: "Atralin" RELATED BRAND_NAME [ChemIDplus] synonym: "Avita" RELATED BRAND_NAME [ChemIDplus] synonym: "beta-Retinoic acid" RELATED [KEGG_COMPOUND] synonym: "Betarretin" RELATED BRAND_NAME [ChemIDplus] synonym: "Biacna" RELATED BRAND_NAME [DrugBank] synonym: "Cordes vas" RELATED BRAND_NAME [ChemIDplus] synonym: "Dermairol" RELATED BRAND_NAME [ChemIDplus] synonym: "Refissa" RELATED BRAND_NAME [ChemIDplus] synonym: "Renova" RELATED BRAND_NAME [DrugBank] synonym: "Retin-A" RELATED BRAND_NAME [DrugBank] synonym: "retinoic acid" RELATED [KEGG_COMPOUND] synonym: "Retisol-A" RELATED BRAND_NAME [DrugBank] synonym: "Ro 1-5488" RELATED [KEGG_COMPOUND] synonym: "Stieva-A" RELATED BRAND_NAME [DrugBank] synonym: "trans-retinoic acid" RELATED [KEGG_COMPOUND] synonym: "Tretin M" RELATED [KEGG_COMPOUND] synonym: "tretinoin" RELATED INN [WHO_MedNet] synonym: "tretinoina" RELATED INN [WHO_MedNet] synonym: "tretinoine" RELATED INN [WHO_MedNet] synonym: "tretinoinum" RELATED INN [WHO_MedNet] synonym: "Tri-luma" RELATED BRAND_NAME [DrugBank] synonym: "Veltin" RELATED BRAND_NAME [DrugBank] synonym: "Vesanoid" RELATED BRAND_NAME [DrugBank] synonym: "vitamin A acid" RELATED [KEGG_COMPOUND] xref: Beilstein:2057223 {source="Beilstein"} xref: CAS:302-79-4 {source="ChemIDplus"} xref: CAS:302-79-4 {source="KEGG COMPOUND"} xref: Drug_Central:2722 {source="DrugCentral"} xref: DrugBank:DB00755 xref: FooDB:FDB022710 xref: HMDB:HMDB0001852 xref: KEGG:C00777 xref: KEGG:D00094 xref: LIPID_MAPS_instance:LMPR01090019 {source="LIPID MAPS"} xref: PDBeChem:REA xref: PMID:10022884 {source="Europe PMC"} xref: PMID:10970886 {source="Europe PMC"} xref: PMID:11073974 {source="Europe PMC"} xref: PMID:11214352 {source="Europe PMC"} xref: PMID:11332619 {source="Europe PMC"} xref: PMID:11343416 {source="Europe PMC"} xref: PMID:11437362 {source="Europe PMC"} xref: PMID:11556813 {source="Europe PMC"} xref: PMID:11722649 {source="Europe PMC"} xref: PMID:11896294 {source="Europe PMC"} xref: PMID:11904404 {source="Europe PMC"} xref: PMID:12958591 {source="Europe PMC"} xref: PMID:14581379 {source="Europe PMC"} xref: PMID:14605492 {source="Europe PMC"} xref: PMID:14627725 {source="Europe PMC"} xref: PMID:14704332 {source="Europe PMC"} xref: PMID:14705145 {source="Europe PMC"} xref: PMID:14978018 {source="Europe PMC"} xref: PMID:15194426 {source="Europe PMC"} xref: PMID:15318809 {source="Europe PMC"} xref: PMID:15327395 {source="Europe PMC"} xref: PMID:15359008 {source="Europe PMC"} xref: PMID:15376324 {source="Europe PMC"} xref: PMID:15476854 {source="Europe PMC"} xref: PMID:15537748 {source="Europe PMC"} xref: PMID:15539337 {source="Europe PMC"} xref: PMID:15675886 {source="Europe PMC"} xref: PMID:15839997 {source="Europe PMC"} xref: PMID:16569247 {source="Europe PMC"} xref: PMID:16685080 {source="Europe PMC"} xref: PMID:16688769 {source="Europe PMC"} xref: PMID:16720557 {source="Europe PMC"} xref: PMID:16819260 {source="Europe PMC"} xref: PMID:16847436 {source="Europe PMC"} xref: PMID:16920920 {source="Europe PMC"} xref: PMID:17073551 {source="Europe PMC"} xref: PMID:17166212 {source="Europe PMC"} xref: PMID:17204142 {source="Europe PMC"} xref: PMID:17447762 {source="Europe PMC"} xref: PMID:18052213 {source="Europe PMC"} xref: PMID:18085670 {source="Europe PMC"} xref: PMID:18162363 {source="Europe PMC"} xref: PMID:18183617 {source="Europe PMC"} xref: PMID:18318655 {source="Europe PMC"} xref: PMID:18322276 {source="Europe PMC"} xref: PMID:18400206 {source="Europe PMC"} xref: PMID:18404486 {source="Europe PMC"} xref: PMID:18440196 {source="Europe PMC"} xref: PMID:18678272 {source="Europe PMC"} xref: PMID:18800767 {source="Europe PMC"} xref: PMID:18819820 {source="Europe PMC"} xref: PMID:18977311 {source="Europe PMC"} xref: PMID:19018099 {source="Europe PMC"} xref: PMID:19112091 {source="Europe PMC"} xref: PMID:19144697 {source="Europe PMC"} xref: PMID:19427305 {source="Europe PMC"} xref: PMID:19587328 {source="Europe PMC"} xref: PMID:19597529 {source="Europe PMC"} xref: PMID:19814868 {source="Europe PMC"} xref: PMID:19841174 {source="Europe PMC"} xref: PMID:21898109 {source="Europe PMC"} xref: PMID:21924320 {source="Europe PMC"} xref: PMID:21993673 {source="Europe PMC"} xref: PMID:22134377 {source="Europe PMC"} xref: PMID:22177959 {source="Europe PMC"} xref: PMID:22180426 {source="Europe PMC"} xref: PMID:22244299 {source="Europe PMC"} xref: PMID:22261335 {source="Europe PMC"} xref: PMID:22428994 {source="Europe PMC"} xref: PMID:22514600 {source="Europe PMC"} xref: PMID:22532966 {source="Europe PMC"} xref: PMID:22534100 {source="Europe PMC"} xref: PMID:22538278 {source="Europe PMC"} xref: PMID:22741806 {source="Europe PMC"} xref: PMID:27759097 {source="Europe PMC"} xref: PMID:29492455 {source="Europe PMC"} xref: PMID:33662750 {source="Europe PMC"} xref: PMID:33820492 {source="Europe PMC"} xref: PMID:34050114 {source="Europe PMC"} xref: PMID:34050360 {source="Europe PMC"} xref: PMID:34091189 {source="Europe PMC"} xref: PMID:7501014 {source="Europe PMC"} xref: PMID:7704533 {source="Europe PMC"} xref: PMID:7961949 {source="Europe PMC"} xref: Reaxys:2057223 {source="Reaxys"} xref: Wikipedia:Retinoic_acid xref: Wikipedia:Tretinoin is_a: CHEBI:12777 ! vitamin A is_a: CHEBI:26536 ! retinoic acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H28O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H28O2/c1-15(8-6-9-16(2)14-19(21)22)11-12-18-17(3)10-7-13-20(18,4)5/h6,8-9,11-12,14H,7,10,13H2,1-5H3,(H,21,22)/b9-6+,12-11+,15-8+,16-14+" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SHGAZHPCJJPHSC-YCNIQYBTSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "300.43512" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "300.20893" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(\\C=C\\C1=C(C)CCCC1(C)C)=C/C=C/C(C)=C/C(O)=O" xsd:string [Term] id: CHEBI:153671 name: N-[(3R,4R,5S,6R)-5-[(2S,3R,4R,5S,6R)-3-Acetamido-5-[(2S,3S,4R,5R,6R)-5-[(2S,3R,4R,5S,6R)-3-acetamido-4,5-dihydroxy-6-(hydroxymethyl)oxan-2-yl]oxy-4-[(2R,3S,4S,5S,6R)-3-[(2S,3R,4R,5S,6R)-3-acetamido-4-hydroxy-6-(hydroxymethyl)-5-[(2S,3R,4S,5R,6R)-3,4,5-trihydroxy-6-(hydroxymethyl)oxan-2-yl]oxyoxan-2-yl]oxy-4,5-dihydroxy-6-(hydroxymethyl)oxan-2-yl]oxy-3-hydroxy-6-[[(2S,3S,4S,5S,6R)-3,4,5-trihydroxy-6-(hydroxymethyl)oxan-2-yl]oxymethyl]oxan-2-yl]oxy-4-hydroxy-6-(hydroxymethyl)oxan-2-yl]oxy-2,4-dihydroxy-6-(hydroxymethyl)oxan-3-yl]acetamide namespace: chebi_ontology subset: 2_STAR synonym: "beta-D-galacto-hexopyranosyl-(1->4)-2-acetamido-2-deoxy-beta-D-gluco-hexopyranosyl-(1->2)-alpha-D-manno-hexopyranosyl-(1->3)-[2-acetamido-2-deoxy-beta-D-gluco-hexopyranosyl-(1->4)][alpha-D-manno-hexopyranosyl-(1->6)]-beta-D-manno-hexopyranosyl-(1->4)-2-acetamido-2-deoxy-beta-D-gluco-hexopyranosyl-(1->4)-2-acetamido-2-deoxy-D-gluco-hexopyranose" RELATED [SUBMITTER] synonym: "Gal(b1-4)GlcNAc(b1-2)Man(a1-3)[GlcNAc(b1-4)][Man(a1-6)]Man(b1-4)GlcNAc(b1-4)GlcNAc" RELATED [SUBMITTER] synonym: "WURCS=2.0/5,8,7/[a2122h-1x_1-5_2*NCC/3=O][a2122h-1b_1-5_2*NCC/3=O][a1122h-1b_1-5][a1122h-1a_1-5][a2112h-1b_1-5]/1-2-3-4-2-5-2-4/a4-b1_b4-c1_c3-d1_c4-g1_c6-h1_d2-e1_e4-f1" RELATED [SUBMITTER] xref: GlyGen:G74111MH xref: GlyTouCan:G74111MH xref: MeSH:D019332 xref: NCIt:C1285 is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:35620 ! vasodilator agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C56H94N4O41" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C56H94N4O41/c1-13(68)57-25-34(77)43(21(9-65)88-49(25)86)96-51-27(59-15(3)70)35(78)45(23(11-67)93-51)98-55-42(85)47(46(99-50-26(58-14(2)69)33(76)29(72)17(5-61)89-50)24(95-55)12-87-53-40(83)37(80)30(73)18(6-62)90-53)100-56-48(39(82)32(75)20(8-64)92-56)101-52-28(60-16(4)71)36(79)44(22(10-66)94-52)97-54-41(84)38(81)31(74)19(7-63)91-54/h17-56,61-67,72-86H,5-12H2,1-4H3,(H,57,68)(H,58,69)(H,59,70)(H,60,71)/t17-,18-,19-,20-,21-,22-,23-,24-,25-,26-,27-,28-,29-,30-,31+,32-,33-,34-,35-,36-,37+,38+,39+,40+,41-,42+,43-,44-,45-,46-,47-,48+,49?,50+,51+,52+,53+,54+,55+,56-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LAHZCCUQFUZSTL-ITODZSKASA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "1479.355" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "1478.53935" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O([C@H]1[C@H](O[C@@H]2O[C@@H]([C@@H](O)[C@H](O)[C@H]2NC(=O)C)CO)[C@H](O[C@@H](O[C@H]3[C@H](O)[C@@H](NC(=O)C)[C@@H](O[C@@H]3CO)O[C@H]4[C@H](O)[C@@H](NC(=O)C)C(O[C@@H]4CO)O)[C@H]1O)CO[C@H]5O[C@@H]([C@@H](O)[C@H](O)[C@@H]5O)CO)[C@H]6O[C@@H]([C@@H](O)[C@H](O)[C@@H]6O[C@@H]7O[C@@H]([C@@H](O[C@@H]8O[C@@H]([C@H](O)[C@H](O)[C@H]8O)CO)[C@H](O)[C@H]7NC(=O)C)CO)CO" xsd:string [Term] id: CHEBI:15368 name: acrolein namespace: chebi_ontology alt_id: CHEBI:13720 alt_id: CHEBI:22214 alt_id: CHEBI:2434 def: "An enal that is prop-2-ene with an oxo group at position 1." [] subset: 3_STAR synonym: "Acrolein" EXACT [KEGG_COMPOUND] synonym: "acrolein" EXACT [UniProt] synonym: "Acrylaldehyde" RELATED [KEGG_COMPOUND] synonym: "acrylaldehyde" EXACT IUPAC_NAME [IUPAC] synonym: "Acrylic aldehyde" RELATED [KEGG_COMPOUND] synonym: "Propenal" RELATED [KEGG_COMPOUND] xref: CAS:107-02-8 {source="KEGG COMPOUND"} xref: HMDB:HMDB0041822 xref: KEGG:C01471 xref: MetaCyc:ACROLEIN xref: PMID:11888018 {source="Europe PMC"} xref: PMID:16725382 {source="Europe PMC"} xref: PMID:18023956 {source="Europe PMC"} xref: PMID:18234483 {source="Europe PMC"} xref: PMID:18686065 {source="Europe PMC"} xref: PMID:18823586 {source="Europe PMC"} xref: PPDB:1016 xref: Reaxys:741856 {source="Reaxys"} xref: Wikipedia:Acrolein is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H4O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H4O/c1-2-3-4/h2-3H,1H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HGINCPLSRVDWNT-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "56.06326" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "56.02621" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H]C(=C)C([H])=O" xsd:string [Term] id: CHEBI:15372 name: 5,6,7,8-tetrahydrobiopterin namespace: chebi_ontology alt_id: CHEBI:12074 alt_id: CHEBI:15219 alt_id: CHEBI:26902 alt_id: CHEBI:43063 alt_id: CHEBI:9480 subset: 3_STAR synonym: "2-Amino-6-(1,2-dihydroxypropyl)-5,6,7,8-tetrahydoro-4(1H)-pteridinone" RELATED [KEGG_COMPOUND] synonym: "2-amino-6-(1,2-dihydroxypropyl)-5,6,7,8-tetrahydropteridin-4(3H)-one" EXACT IUPAC_NAME [IUPAC] synonym: "5,6,7,8-TETRAHYDROBIOPTERIN" EXACT [PDBeChem] synonym: "5,6,7,8-Tetrahydrobiopterin" EXACT [KEGG_COMPOUND] synonym: "5,6,7,8-tetrahydrobiopterin" EXACT [UniProt] synonym: "BH4" RELATED [ChEBI] synonym: "BH4" RELATED [ChemIDplus] synonym: "Tetrahydrobiopterin" RELATED [KEGG_COMPOUND] xref: Beilstein:544742 {source="Beilstein"} xref: CAS:17528-72-2 {source="ChemIDplus"} xref: CAS:17528-72-2 {source="KEGG COMPOUND"} xref: DrugBank:DB00360 xref: KEGG:C00272 xref: PDBeChem:H4B is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H15N5O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H15N5O3/c1-3(15)6(16)4-2-11-7-5(12-4)8(17)14-9(10)13-7/h3-4,6,12,15-16H,2H2,1H3,(H4,10,11,13,14,17)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FNKQXYHWGSIFBK-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "241.24730" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "241.11749" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(O)C(O)C1CNc2nc(N)[nH]c(=O)c2N1" xsd:string [Term] id: CHEBI:15377 name: water namespace: chebi_ontology alt_id: CHEBI:10743 alt_id: CHEBI:13352 alt_id: CHEBI:27313 alt_id: CHEBI:42043 alt_id: CHEBI:42857 alt_id: CHEBI:43228 alt_id: CHEBI:44292 alt_id: CHEBI:44701 alt_id: CHEBI:44819 alt_id: CHEBI:5585 def: "An oxygen hydride consisting of an oxygen atom that is covalently bonded to two hydrogen atoms" [] subset: 3_STAR synonym: "[OH2]" RELATED [IUPAC] synonym: "acqua" RELATED [ChEBI] synonym: "agua" RELATED [ChEBI] synonym: "aqua" RELATED [ChEBI] synonym: "BOUND WATER" RELATED [PDBeChem] synonym: "dihydridooxygen" RELATED [IUPAC] synonym: "dihydrogen oxide" RELATED [IUPAC] synonym: "eau" RELATED [ChEBI] synonym: "H2O" RELATED [KEGG_COMPOUND] synonym: "H2O" RELATED [UniProt] synonym: "HOH" RELATED [ChEBI] synonym: "hydrogen hydroxide" RELATED [ChEBI] synonym: "oxidane" EXACT IUPAC_NAME [IUPAC] synonym: "Wasser" RELATED [ChEBI] synonym: "WATER" EXACT [PDBeChem] synonym: "Water" EXACT [KEGG_COMPOUND] synonym: "water" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:3587155 {source="Beilstein"} xref: CAS:7732-18-5 {source="NIST Chemistry WebBook"} xref: CAS:7732-18-5 {source="ChemIDplus"} xref: CAS:7732-18-5 {source="KEGG COMPOUND"} xref: Gmelin:117 {source="Gmelin"} xref: HMDB:HMDB0002111 xref: KEGG:C00001 xref: KEGG:D00001 xref: MeSH:D014867 xref: MetaCyc:WATER xref: MO:380 xref: MolBase:1 xref: NCIt:C65147 xref: PDBeChem:HOH xref: Reaxys:3587155 {source="Reaxys"} xref: SNOMEDCT:11713004 xref: Wikipedia:Water is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "H2O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/H2O/h1H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XLYOFNOQVPJJNP-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "18.01530" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "18.01056" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H]O[H]" xsd:string [Term] id: CHEBI:15379 name: dioxygen namespace: chebi_ontology alt_id: CHEBI:10745 alt_id: CHEBI:13416 alt_id: CHEBI:23833 alt_id: CHEBI:25366 alt_id: CHEBI:30491 alt_id: CHEBI:44742 alt_id: CHEBI:7860 subset: 3_STAR synonym: "[OO]" RELATED [MolBase] synonym: "dioxygen" EXACT IUPAC_NAME [IUPAC] synonym: "dioxygene" RELATED [ChEBI] synonym: "Disauerstoff" RELATED [ChEBI] synonym: "E 948" RELATED [ChEBI] synonym: "E-948" RELATED [ChEBI] synonym: "E948" RELATED [ChEBI] synonym: "molecular oxygen" RELATED [ChEBI] synonym: "O2" RELATED [UniProt] synonym: "O2" RELATED [IUPAC] synonym: "O2" RELATED [KEGG_COMPOUND] synonym: "Oxygen" RELATED [KEGG_COMPOUND] synonym: "OXYGEN MOLECULE" RELATED [PDBeChem] xref: CAS:7782-44-7 {source="NIST Chemistry WebBook"} xref: CAS:7782-44-7 {source="ChemIDplus"} xref: CAS:7782-44-7 {source="KEGG COMPOUND"} xref: Gmelin:485 {source="Gmelin"} xref: HMDB:HMDB0001377 xref: KEGG:C00007 xref: KEGG:D00003 xref: MeSH:D010100 xref: MetaCyc:OXYGEN-MOLECULE xref: MolBase:750 xref: NCIt:C722 xref: PDBeChem:OXY xref: PMID:10906528 {source="Europe PMC"} xref: PMID:16977326 {source="Europe PMC"} xref: PMID:18210929 {source="Europe PMC"} xref: PMID:18638417 {source="Europe PMC"} xref: PMID:19840863 {source="Europe PMC"} xref: PMID:7710549 {source="Europe PMC"} xref: PMID:9463773 {source="Europe PMC"} xref: SNOMEDCT:24099007 xref: Wikipedia:Oxygen is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/O2/c1-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "MYMOFIZGZYHOMD-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "31.998" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "31.98983" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O=O" xsd:string [Term] id: CHEBI:15414 name: S-adenosyl-L-methionine namespace: chebi_ontology alt_id: CHEBI:10786 alt_id: CHEBI:10833 alt_id: CHEBI:12742 alt_id: CHEBI:12757 alt_id: CHEBI:12760 alt_id: CHEBI:22036 alt_id: CHEBI:45607 alt_id: CHEBI:527887 alt_id: CHEBI:8946 def: "A sulfonium compound that is the S-adenosyl derivative of L-methionine. It is an intermediate in the metabolic pathway of methionine." [] subset: 3_STAR synonym: "(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt" RELATED [ChemIDplus] synonym: "[(3S)-3-amino-3-carboxypropyl](5'-deoxyadenosin-5'-yl)(methyl)sulfonium" EXACT IUPAC_NAME [IUPAC] synonym: "[1-(adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium" RELATED [IUPAC] synonym: "Acylcarnitine" RELATED [KEGG_COMPOUND] synonym: "AdoMet" RELATED [JCBN] synonym: "S-(5'-deoxyadenosin-5'-yl)-L-methionine" RELATED [JCBN] synonym: "S-Adenosyl-L-methionine" EXACT [KEGG_COMPOUND] synonym: "S-adenosyl-L-methionine" EXACT [ChEBI] synonym: "S-Adenosylmethionine" RELATED [KEGG_COMPOUND] synonym: "S-adenosylmethionine" RELATED [ChEBI] synonym: "SAM" RELATED [JCBN] synonym: "SAMe" RELATED [ChemIDplus] xref: Beilstein:3576439 {source="Beilstein"} xref: CAS:29908-03-0 {source="KEGG COMPOUND"} xref: CAS:29908-03-0 {source="ChemIDplus"} xref: ChemIDplus:29908-03-0 xref: COMe:MOL000172 xref: DrugBank:DB00118 xref: HMDB:HMDB0001185 xref: KEGG COMPOUND:29908-03-0 xref: KEGG COMPOUND:C00019 xref: KEGG:C00019 xref: KNApSAcK:C00007347 xref: MeSH:C116917 xref: MeSH:D012436 xref: MetaCyc:S-ADENOSYLMETHIONINE xref: NCIt:C63661 xref: NCIt:C64637 xref: PMID:11017945 {source="Europe PMC"} xref: PMID:17439666 {source="Europe PMC"} xref: Reaxys:3919754 {source="Reaxys"} xref: SNOMEDCT:102651000 xref: SNOMEDCT:262126009 xref: Wikipedia:S-Adenosyl_methionine is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:23354 ! coenzyme property_value: http://purl.obolibrary.org/obo/chebi/charge "+1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C15H23N6O5S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C15H22N6O5S/c1-27(3-2-7(16)15(24)25)4-8-10(22)11(23)14(26-8)21-6-20-9-12(17)18-5-19-13(9)21/h5-8,10-11,14,22-23H,2-4,16H2,1H3,(H2-,17,18,19,24,25)/p+1/t7-,8+,10+,11+,14+,27?/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "MEFKEPWMEQBLKI-AIRLBKTGSA-O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "399.44500" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "399.14452" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[S+](CC[C@H](N)C(O)=O)C[C@H]1O[C@H]([C@H](O)[C@@H]1O)n1cnc2c(N)ncnc12" xsd:string [Term] id: CHEBI:15422 name: ATP namespace: chebi_ontology alt_id: CHEBI:10789 alt_id: CHEBI:10841 alt_id: CHEBI:13236 alt_id: CHEBI:22249 alt_id: CHEBI:2359 alt_id: CHEBI:40938 def: "An adenosine 5'-phosphate in which the 5'-phosphate is a triphosphate group. It is involved in the transportation of chemical energy during metabolic pathways." [] subset: 3_STAR synonym: "adenosine 5'-(tetrahydrogen triphosphate)" EXACT IUPAC_NAME [IUPAC] synonym: "Adenosine 5'-triphosphate" RELATED [KEGG_COMPOUND] synonym: "Adenosine triphosphate" RELATED [ChemIDplus] synonym: "ADENOSINE-5'-TRIPHOSPHATE" RELATED [PDBeChem] synonym: "ATP" EXACT [KEGG_COMPOUND] synonym: "H4atp" RELATED [IUPAC] xref: Beilstein:73010 {source="Beilstein"} xref: CAS:56-65-5 {source="ChemIDplus"} xref: CAS:56-65-5 {source="KEGG COMPOUND"} xref: Drug_Central:91 {source="DrugCentral"} xref: DrugBank:DB00171 xref: Gmelin:34857 {source="Gmelin"} xref: HMDB:HMDB0000538 xref: KEGG:C00002 xref: KEGG:D08646 xref: KNApSAcK:C00001491 xref: Patent:US3079379 xref: PDBeChem:ATP xref: Reaxys:73010 {source="Reaxys"} xref: Wikipedia:Adenosine_triphosphate is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:26020 ! phosphate property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H16N5O13P3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H16N5O13P3/c11-8-5-9(13-2-12-8)15(3-14-5)10-7(17)6(16)4(26-10)1-25-30(21,22)28-31(23,24)27-29(18,19)20/h2-4,6-7,10,16-17H,1H2,(H,21,22)(H,23,24)(H2,11,12,13)(H2,18,19,20)/t4-,6-,7-,10-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ZKHQWZAMYRWXGA-KQYNXXCUSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "507.18100" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "506.99575" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Nc1ncnc2n(cnc12)[C@@H]1O[C@H](COP(O)(=O)OP(O)(=O)OP(O)(O)=O)[C@@H](O)[C@H]1O" xsd:string [Term] id: CHEBI:15428 name: glycine namespace: chebi_ontology alt_id: CHEBI:10792 alt_id: CHEBI:14344 alt_id: CHEBI:24368 alt_id: CHEBI:42964 alt_id: CHEBI:5460 def: "The simplest (and the only achiral) proteinogenic amino acid, with a hydrogen atom as its side chain." [] subset: 3_STAR synonym: "Aminoacetic acid" RELATED [KEGG_COMPOUND] synonym: "aminoacetic acid" EXACT IUPAC_NAME [IUPAC] synonym: "Aminoessigsaeure" RELATED [ChEBI] synonym: "aminoethanoic acid" RELATED [ChEBI] synonym: "aminoethanoic acid" RELATED [JCBN] synonym: "G" RELATED [ChEBI] synonym: "Gly" RELATED [KEGG_COMPOUND] synonym: "Glycin" RELATED [ChemIDplus] synonym: "GLYCINE" EXACT [PDBeChem] synonym: "Glycine" EXACT [KEGG_COMPOUND] synonym: "glycine" EXACT IUPAC_NAME [IUPAC] synonym: "Glycocoll" RELATED [ChemIDplus] synonym: "Glykokoll" RELATED [ChEBI] synonym: "Glyzin" RELATED [ChEBI] synonym: "H2N-CH2-COOH" RELATED [IUPAC] synonym: "Hgly" RELATED [IUPAC] synonym: "Leimzucker" RELATED [ChemIDplus] xref: Beilstein:635782 {source="Beilstein"} xref: CAS:56-40-6 {source="NIST Chemistry WebBook"} xref: CAS:56-40-6 {source="ChemIDplus"} xref: CAS:56-40-6 {source="KEGG COMPOUND"} xref: Drug_Central:1319 {source="DrugCentral"} xref: DrugBank:DB00145 xref: ECMDB:ECMDB00123 xref: Gmelin:1808 {source="Gmelin"} xref: HMDB:HMDB0000123 xref: KEGG:C00037 xref: KEGG:D00011 xref: KNApSAcK:C00001361 xref: MetaCyc:GLY xref: PDBeChem:GLY xref: PMID:10930630 {source="Europe PMC"} xref: PMID:11019925 {source="Europe PMC"} xref: PMID:11174716 {source="Europe PMC"} xref: PMID:11542461 {source="Europe PMC"} xref: PMID:11806864 {source="Europe PMC"} xref: PMID:12631515 {source="Europe PMC"} xref: PMID:12754315 {source="Europe PMC"} xref: PMID:12770151 {source="Europe PMC"} xref: PMID:12921899 {source="Europe PMC"} xref: PMID:15331688 {source="Europe PMC"} xref: PMID:15388434 {source="Europe PMC"} xref: PMID:15710237 {source="Europe PMC"} xref: PMID:16105183 {source="Europe PMC"} xref: PMID:16151895 {source="Europe PMC"} xref: PMID:16214212 {source="Europe PMC"} xref: PMID:16417482 {source="Europe PMC"} xref: PMID:16444815 {source="Europe PMC"} xref: PMID:16664855 {source="Europe PMC"} xref: PMID:16901953 {source="Europe PMC"} xref: PMID:16918424 {source="Europe PMC"} xref: PMID:16986325 {source="Europe PMC"} xref: PMID:16998855 {source="Europe PMC"} xref: PMID:17154252 {source="Europe PMC"} xref: PMID:17383967 {source="Europe PMC"} xref: PMID:17582620 {source="Europe PMC"} xref: PMID:17970719 {source="Europe PMC"} xref: PMID:18079355 {source="Europe PMC"} xref: PMID:18396796 {source="Europe PMC"} xref: PMID:18440992 {source="Europe PMC"} xref: PMID:18593588 {source="Europe PMC"} xref: PMID:18816054 {source="Europe PMC"} xref: PMID:18840508 {source="Europe PMC"} xref: PMID:19028609 {source="Europe PMC"} xref: PMID:19120667 {source="Europe PMC"} xref: PMID:19449910 {source="Europe PMC"} xref: PMID:19526731 {source="Europe PMC"} xref: PMID:19544666 {source="Europe PMC"} xref: PMID:19738917 {source="Europe PMC"} xref: PMID:19916621 {source="Europe PMC"} xref: PMID:19924257 {source="Europe PMC"} xref: PMID:21751272 {source="Europe PMC"} xref: PMID:22044190 {source="Europe PMC"} xref: PMID:22079563 {source="Europe PMC"} xref: PMID:22234938 {source="Europe PMC"} xref: PMID:22264337 {source="Europe PMC"} xref: PMID:22293292 {source="Europe PMC"} xref: PMID:22401276 {source="Europe PMC"} xref: PMID:22434786 {source="Europe PMC"} xref: Reaxys:635782 {source="Reaxys"} xref: Wikipedia:Glycine xref: YMDB:YMDB00016 is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C2H5NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C2H5NO2/c3-1-2(4)5/h1,3H2,(H,4,5)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DHMQDGOQFOQNFH-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "75.06664" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "75.03203" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NCC(O)=O" xsd:string [Term] id: CHEBI:15551 name: prostaglandin E2 namespace: chebi_ontology alt_id: CHEBI:10910 alt_id: CHEBI:10911 alt_id: CHEBI:114125 alt_id: CHEBI:26323 alt_id: CHEBI:4625 alt_id: CHEBI:8512 def: "Prostaglandin F2alpha in which the hydroxy group at position 9 has been oxidised to the corresponding ketone. Prostaglandin E2 is the most common and most biologically potent of mammalian prostaglandins." [] subset: 3_STAR synonym: "(15S)-prostaglandin E2" RELATED [ChemIDplus] synonym: "(5Z,11alpha,13E,15S)-11,15-dihydroxy-9-oxoprosta-5,13-dien-1-oic acid" RELATED [ChemIDplus] synonym: "(5Z,13E)-(15S)-11alpha,15-Dihydroxy-9-oxoprost-13-enoate" RELATED [KEGG_COMPOUND] synonym: "(5Z,13E)-(15S)-11alpha,15-Dihydroxy-9-oxoprosta-5,13-dienoate" RELATED [KEGG_COMPOUND] synonym: "(5Z,13E,15S)-11alpha,15-dihydroxy-9-oxoprosta-5,13-dien-1-oic acid" EXACT IUPAC_NAME [IUPAC] synonym: "(E,Z)-(1R,2R,3R)-7-(3-Hydroxy-2-((3S)-(3-hydroxy-1-octenyl))-5-oxocyclopentyl)-5-heptenoic acid" RELATED [ChemIDplus] synonym: "(Z)-7-((1R,2R,3R)-3-hydroxy-2-((S,E)-3-hydroxyoct-1-enyl)-5-oxocyclopentyl)hept-5-enoic acid" RELATED [ChEMBL] synonym: "Cervidil" RELATED BRAND_NAME [KEGG_DRUG] synonym: "Cerviprime" RELATED BRAND_NAME [ChemIDplus] synonym: "Cerviprost" RELATED BRAND_NAME [ChemIDplus] synonym: "Dinoproston" RELATED [ChemIDplus] synonym: "dinoprostona" RELATED INN [WHO_MedNet] synonym: "dinoprostone" RELATED INN [WHO_MedNet] synonym: "dinoprostonum" RELATED INN [WHO_MedNet] synonym: "Enzaprost E" RELATED BRAND_NAME [ChemIDplus] synonym: "Glandin-E2" RELATED BRAND_NAME [ChEBI] synonym: "Minprositin E2" RELATED BRAND_NAME [ChemIDplus] synonym: "Minprostin E2" RELATED BRAND_NAME [ChemIDplus] synonym: "PGE2" RELATED [KEGG_COMPOUND] synonym: "PGE2" RELATED [ChemIDplus] synonym: "Prepidil" RELATED BRAND_NAME [KEGG_DRUG] synonym: "Propess" RELATED BRAND_NAME [DrugBank] synonym: "Prostaglandin E2" EXACT [KEGG_COMPOUND] synonym: "Prostarmon E" RELATED BRAND_NAME [ChemIDplus] synonym: "Prostenone" RELATED BRAND_NAME [ChemIDplus] synonym: "Prostin" RELATED BRAND_NAME [ChemIDplus] synonym: "Prostin E2" RELATED BRAND_NAME [KEGG_DRUG] synonym: "U 12062" RELATED [ChemIDplus] synonym: "U-12,062" RELATED [ChemIDplus] synonym: "U-12062" RELATED [ChemIDplus] xref: Beilstein:2224724 {source="Beilstein"} xref: CAS:363-24-6 {source="ChemIDplus"} xref: CAS:363-24-6 {source="KEGG COMPOUND"} xref: Drug_Central:913 {source="DrugCentral"} xref: DrugBank:DB00917 xref: FooDB:FDB022498 xref: HMDB:HMDB0001220 xref: KEGG:C00584 xref: KEGG:D00079 xref: LINCS:LSM-42919 xref: LIPID_MAPS_instance:LMFA03010003 {source="LIPID MAPS"} xref: Patent:DE2011969 xref: Patent:GB851827 xref: Patent:NL6505799 xref: Patent:US3598858 xref: PDBeChem:P2E xref: PMID:11279302 {source="Europe PMC"} xref: PMID:12746806 {source="Europe PMC"} xref: PMID:12859290 {source="Europe PMC"} xref: PMID:14499495 {source="Europe PMC"} xref: PMID:14535055 {source="Europe PMC"} xref: PMID:14703707 {source="Europe PMC"} xref: PMID:15542928 {source="Europe PMC"} xref: PMID:15661432 {source="Europe PMC"} xref: PMID:16405508 {source="Europe PMC"} xref: PMID:16787416 {source="Europe PMC"} xref: PMID:16978535 {source="Europe PMC"} xref: PMID:20671299 {source="Europe PMC"} xref: PMID:2403792 {source="Europe PMC"} xref: PMID:24501112 {source="Europe PMC"} xref: PMID:32898608 {source="Europe PMC"} xref: PMID:33271839 {source="Europe PMC"} xref: PMID:33559528 {source="Europe PMC"} xref: PMID:33685091 {source="Europe PMC"} xref: PMID:33715333 {source="Europe PMC"} xref: PMID:33782420 {source="Europe PMC"} xref: PMID:33811074 {source="Europe PMC"} xref: PMID:33958485 {source="Europe PMC"} xref: PMID:34065827 {source="Europe PMC"} xref: PMID:34071686 {source="Europe PMC"} xref: PMID:34102274 {source="Europe PMC"} xref: PMID:6317292 {source="Europe PMC"} xref: PMID:7224729 {source="Europe PMC"} xref: PMID:74611 {source="Europe PMC"} xref: PMID:7836930 {source="Europe PMC"} xref: PMID:9276764 {source="Europe PMC"} xref: Reaxys:2224724 {source="Reaxys"} xref: Wikipedia:Prostaglandin_E2 is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H32O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H32O5/c1-2-3-6-9-15(21)12-13-17-16(18(22)14-19(17)23)10-7-4-5-8-11-20(24)25/h4,7,12-13,15-17,19,21,23H,2-3,5-6,8-11,14H2,1H3,(H,24,25)/b7-4-,13-12+/t15-,16+,17+,19+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XEYBRNLFEZDVAW-ARSRFYASSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "352.471" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "352.22497" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCC[C@H](O)\\C=C\\[C@H]1[C@H](O)CC(=O)[C@@H]1C\\C=C/CCCC(O)=O" xsd:string [Term] id: CHEBI:15559 name: 15-oxo-ETE namespace: chebi_ontology alt_id: CHEBI:11326 alt_id: CHEBI:19155 alt_id: CHEBI:761 def: "An oxoicosatetraenoic acid having (5Z,8Z,11Z,13E) double bond stereochemistry, and an oxo group in position 15." [] subset: 3_STAR synonym: "(5Z,8Z,11Z,13E)-15-ketoeicosa-5,8,11,13-tetraenoic acid" RELATED [ChEBI] synonym: "(5Z,8Z,11Z,13E)-15-oxo-5,8,11,13-eicosatetraenoic acid" RELATED [ChEBI] synonym: "(5Z,8Z,11Z,13E)-15-oxoeicosa-5,8,11,13-tetraenoic acid" RELATED [ChEBI] synonym: "(5Z,8Z,11Z,13E)-15-Oxoicosa-5,8,11,13-tetraenoic acid" RELATED [KEGG_COMPOUND] synonym: "(5Z,8Z,11Z,13E)-15-oxoicosa-5,8,11,13-tetraenoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "15-Kete" RELATED [ChemIDplus] synonym: "15-Oxo-5,8,11-cis-13-trans-eicosatetraenoate" RELATED [KEGG_COMPOUND] synonym: "15-Oxo-ETE" EXACT [LIPID_MAPS] synonym: "15-OxoETE" RELATED [KEGG_COMPOUND] xref: CAS:81416-72-0 {source="KEGG COMPOUND"} xref: CAS:81416-72-0 {source="ChemIDplus"} xref: HMDB:HMDB0010210 xref: KEGG:C04577 xref: LIPID_MAPS_instance:LMFA03060051 {source="LIPID MAPS"} xref: PMID:17459323 {source="Europe PMC"} xref: PMID:17910482 {source="Europe PMC"} xref: PMID:19535459 {source="Europe PMC"} xref: PMID:23945567 {source="Europe PMC"} xref: Reaxys:6217055 {source="Reaxys"} is_a: CHEBI:35366 ! fatty acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H30O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H30O3/c1-2-3-13-16-19(21)17-14-11-9-7-5-4-6-8-10-12-15-18-20(22)23/h4-5,8-11,14,17H,2-3,6-7,12-13,15-16,18H2,1H3,(H,22,23)/b5-4-,10-8-,11-9-,17-14+" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YGJTUEISKATQSM-USWFWKISSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "318.45040" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "318.21949" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCC(=O)\\C=C\\C=C/C\\C=C/C\\C=C/CCCC(O)=O" xsd:string [Term] id: CHEBI:15560 name: (15Z)-12-oxophyto-10,15-dienoic acid namespace: chebi_ontology alt_id: CHEBI:10825 alt_id: CHEBI:148 alt_id: CHEBI:19141 alt_id: CHEBI:19142 subset: 3_STAR synonym: "(15Z)-12-Oxophyto-10,15-dienoate" RELATED [KEGG_COMPOUND] synonym: "(15Z)-12-Oxophyto-10,15-dienoic acid" EXACT [KEGG_COMPOUND] synonym: "12-OPDA" RELATED [KEGG_COMPOUND] synonym: "12-Oxo-10,15(Z)-phytodienoic acid" RELATED [KEGG_COMPOUND] synonym: "12-oxophytodienoic acid" RELATED [ChemIDplus] synonym: "4-oxo-5-(2-pentenyl)-2-Cyclopentene-1-octanoic acid" RELATED [ChemIDplus] synonym: "8-(2-(cis-2'-Pentenyl)-3-oxo-cis-4-cyclopentenyl)octanoic acid" RELATED [ChemIDplus] synonym: "8-{(1S,5S)-4-oxo-5-[(2Z)-pent-2-en-1-yl]cyclopent-2-en-1-yl}octanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "9(S),13(S)-12-Oxo-PDA" RELATED [KEGG_COMPOUND] synonym: "OPDA" RELATED [ChEBI] xref: Beilstein:4354678 {source="Beilstein"} xref: CAS:67204-66-4 {source="ChemIDplus"} xref: KEGG:C01226 xref: KNApSAcK:C00000365 xref: MeSH:C025999 xref: NCIt:C30176 is_a: CHEBI:35366 ! fatty acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H28O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H28O3/c1-2-3-7-11-16-15(13-14-17(16)19)10-8-5-4-6-9-12-18(20)21/h3,7,13-16H,2,4-6,8-12H2,1H3,(H,20,21)/b7-3-/t15-,16-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PMTMAFAPLCGXGK-JMTMCXQRSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "292.41312" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "292.20384" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC\\C=C/C[C@H]1[C@@H](CCCCCCCC(O)=O)C=CC1=O" xsd:string [Term] id: CHEBI:15588 name: (R)-malate(2-) namespace: chebi_ontology alt_id: CHEBI:11002 alt_id: CHEBI:18685 def: "An optically active form of malate having (R)-configuration." [] subset: 3_STAR synonym: "(2R)-2-hydroxybutanedioate" EXACT IUPAC_NAME [IUPAC] synonym: "(R)-malate" RELATED [UniProt] synonym: "D-malate" RELATED [ChEBI] xref: KEGG:C00497 xref: MetaCyc:CPD-660 is_a: CHEBI:15595 ! malate(2-) property_value: http://purl.obolibrary.org/obo/chebi/charge "-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H4O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H6O5/c5-2(4(8)9)1-3(6)7/h2,5H,1H2,(H,6,7)(H,8,9)/p-2/t2-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BJEPYKJPYRNKOW-UWTATZPHSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "132.07156" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "132.00697" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O[C@H](CC([O-])=O)C([O-])=O" xsd:string [Term] id: CHEBI:15589 name: (S)-malate(2-) namespace: chebi_ontology alt_id: CHEBI:11066 alt_id: CHEBI:13140 alt_id: CHEBI:18784 def: "An optically active form of malate having (S)-configuration." [] subset: 3_STAR synonym: "(2S)-2-hydroxybutanedioate" EXACT IUPAC_NAME [IUPAC] synonym: "(S)-malate" RELATED [UniProt] synonym: "L-malate" RELATED [ChEBI] xref: Beilstein:4133558 {source="Beilstein"} xref: KEGG:C00149 xref: MetaCyc:MAL xref: Reaxys:4133558 {source="Reaxys"} is_a: CHEBI:15595 ! malate(2-) property_value: http://purl.obolibrary.org/obo/chebi/charge "-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H4O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H6O5/c5-2(4(8)9)1-3(6)7/h2,5H,1H2,(H,6,7)(H,8,9)/p-2/t2-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BJEPYKJPYRNKOW-REOHCLBHSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "132.07156" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "132.00697" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O[C@@H](CC([O-])=O)C([O-])=O" xsd:string [Term] id: CHEBI:15595 name: malate(2-) namespace: chebi_ontology alt_id: CHEBI:14556 alt_id: CHEBI:25114 def: "A C4-dicarboxylate resulting from deprotonation of both carboxy groups of malic acid." [] subset: 3_STAR synonym: "2-hydroxybutanedioate" EXACT IUPAC_NAME [IUPAC] synonym: "hydroxybutanedioic acid, ion(2-)" RELATED [ChemIDplus] synonym: "mal" RELATED [IUPAC] synonym: "malate" RELATED [UniProt] synonym: "malate anion" RELATED [ChEBI] synonym: "malate dianion" RELATED [ChEBI] xref: Beilstein:3664410 {source="Beilstein"} xref: CAS:149-61-1 {source="ChemIDplus"} xref: Gmelin:327305 {source="Gmelin"} xref: KEGG:C00711 xref: PMID:17190852 {source="Europe PMC"} xref: Reaxys:3664410 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H4O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H6O5/c5-2(4(8)9)1-3(6)7/h2,5H,1H2,(H,6,7)(H,8,9)/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BJEPYKJPYRNKOW-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "132.07156" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "132.00697" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(CC([O-])=O)C([O-])=O" xsd:string [Term] id: CHEBI:15598 name: 2-methylcitrate(3-) namespace: chebi_ontology alt_id: CHEBI:11592 alt_id: CHEBI:11618 alt_id: CHEBI:19630 alt_id: CHEBI:19695 def: "A tricarboxylic acid trianion that is the conjugate base of 2-methylcitric acid." [] subset: 3_STAR synonym: "2-Hydroxybutane-1,2,3-tricarboxylate" RELATED [KEGG_COMPOUND] synonym: "2-hydroxybutane-1,2,3-tricarboxylate" EXACT IUPAC_NAME [IUPAC] synonym: "2-Methylcitrate" RELATED [KEGG_COMPOUND] synonym: "2-methylcitrate" RELATED [UniProt] xref: KEGG:C02225 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H7O7" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H10O7/c1-3(5(10)11)7(14,6(12)13)2-4(8)9/h3,14H,2H2,1H3,(H,8,9)(H,10,11)(H,12,13)/p-3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YNOXCRMFGMSKIJ-UHFFFAOYSA-K" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "203.12628" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "203.02082" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C([O-])=O)C(O)(CC([O-])=O)C([O-])=O" xsd:string [Term] id: CHEBI:15611 name: sarcosine namespace: chebi_ontology alt_id: CHEBI:10876 alt_id: CHEBI:12609 alt_id: CHEBI:15065 alt_id: CHEBI:21765 alt_id: CHEBI:45381 alt_id: CHEBI:45442 alt_id: CHEBI:45531 alt_id: CHEBI:45614 alt_id: CHEBI:9029 def: "A N-alkylglycine that is the N-methyl derivative of glycine. It is an intermediate in the metabolic pathway of glycine." [] subset: 3_STAR synonym: "(methylamino)acetic acid" RELATED [ChemIDplus] synonym: "(methylamino)ethanoic acid" RELATED [NIST_Chemistry_WebBook] synonym: "L-sarcosine" RELATED [ChEBI] synonym: "MeGly" RELATED [ChEBI] synonym: "methylaminoacetic acid" RELATED [NIST_Chemistry_WebBook] synonym: "N-methylaminoacetic acid" RELATED [NIST_Chemistry_WebBook] synonym: "N-Methylglycine" RELATED [KEGG_COMPOUND] synonym: "Sar" RELATED [IUPAC] synonym: "SARCOSINE" EXACT [PDBeChem] synonym: "Sarcosine" EXACT [KEGG_COMPOUND] synonym: "sarcosine" EXACT IUPAC_NAME [IUPAC] synonym: "sarcosinic acid" RELATED [ChemIDplus] xref: Beilstein:1699442 {source="ChemIDplus"} xref: CAS:107-97-1 {source="NIST Chemistry WebBook"} xref: CAS:107-97-1 {source="ChemIDplus"} xref: CAS:107-97-1 {source="KEGG COMPOUND"} xref: Gmelin:2018 {source="Gmelin"} xref: HMDB:HMDB0000271 xref: KEGG:C00213 xref: MetaCyc:SARCOSINE xref: PDBeChem:SAR xref: PMID:11272730 {source="Europe PMC"} xref: PMID:11850512 {source="Europe PMC"} xref: PMID:15023571 {source="Europe PMC"} xref: PMID:15331688 {source="Europe PMC"} xref: PMID:16154544 {source="Europe PMC"} xref: PMID:17095900 {source="Europe PMC"} xref: PMID:17190852 {source="Europe PMC"} xref: PMID:17901997 {source="Europe PMC"} xref: PMID:19433577 {source="Europe PMC"} xref: PMID:19577367 {source="Europe PMC"} xref: PMID:19619564 {source="Europe PMC"} xref: PMID:19944746 {source="Europe PMC"} xref: Reaxys:1699442 {source="Reaxys"} xref: UM-BBD_compID:c0135 {source="UM-BBD"} xref: Wikipedia:Sarcosine is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H7NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H7NO2/c1-4-2-3(5)6/h4H,2H2,1H3,(H,5,6)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FSYKKLYZXJSNPZ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "89.09322" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "89.04768" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CNCC(O)=O" xsd:string [Term] id: CHEBI:15676 name: allantoin namespace: chebi_ontology alt_id: CHEBI:13761 alt_id: CHEBI:22354 alt_id: CHEBI:2594 def: "An imidazolidine-2,4-dione that is 5-aminohydantoin in which a carbamoyl group is attached to the exocyclic nitrogen." [] subset: 3_STAR synonym: "(2,5-Dioxo-4-imidazolidinyl)urea" RELATED [ChemIDplus] synonym: "2,5-Dioxo-4-imidazolidinyl-urea" RELATED [NIST_Chemistry_WebBook] synonym: "4-ureido-2,5-imidazolidinedione" RELATED [HMDB] synonym: "5-Ureido-2,4-imidazolidindione" RELATED [ChemIDplus] synonym: "5-Ureidohydantoin" RELATED [KEGG_COMPOUND] synonym: "Allantoin" EXACT [KEGG_COMPOUND] synonym: "allantoin" EXACT [UniProt] synonym: "Glyoxyldiureide" RELATED [KEGG_COMPOUND] synonym: "N-(2,5-Dioxo-4-imidazolidinyl)urea" RELATED [HMDB] synonym: "N-(2,5-dioxoimidazolidin-4-yl)urea" EXACT IUPAC_NAME [IUPAC] xref: CAS:97-59-6 {source="ChemIDplus"} xref: CAS:97-59-6 {source="NIST Chemistry WebBook"} xref: CAS:97-59-6 {source="KEGG COMPOUND"} xref: Drug_Central:4268 {source="DrugCentral"} xref: HMDB:HMDB0000462 xref: KEGG:C01551 xref: KEGG:D00121 xref: KNApSAcK:C00007468 xref: LINCS:LSM-5190 xref: MetaCyc:ALLANTOIN xref: Patent:US2158098 xref: PMID:11157020 {source="Europe PMC"} xref: PMID:14619112 {source="Europe PMC"} xref: PMID:17190852 {source="Europe PMC"} xref: Reaxys:83514 {source="Reaxys"} xref: Wikipedia:Allantoin is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H6N4O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H6N4O3/c5-3(10)6-1-2(9)8-4(11)7-1/h1H,(H3,5,6,10)(H2,7,8,9,11)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "POJWUDADGALRAB-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "158.11560" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "158.04399" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NC(=O)NC1NC(=O)NC1=O" xsd:string [Term] id: CHEBI:15682 name: (N(omega)-L-arginino)succinic acid namespace: chebi_ontology alt_id: CHEBI:10960 alt_id: CHEBI:21475 alt_id: CHEBI:7098 subset: 3_STAR synonym: "2-(N(omega)-L-arginino)butanedioic acid" EXACT IUPAC_NAME [IUPAC] synonym: "2-(Nomega-L-Arginino)succinate" RELATED [KEGG_COMPOUND] synonym: "L-Argininosuccinate" RELATED [KEGG_COMPOUND] synonym: "L-argininosuccinate" RELATED [ChEBI] synonym: "L-Argininosuccinic acid" RELATED [KEGG_COMPOUND] synonym: "L-argininosuccinic acid" RELATED [ChEBI] synonym: "L-Arginosuccinic acid" RELATED [KEGG_COMPOUND] synonym: "L-arginosuccinic acid" RELATED [ChEBI] synonym: "N(omega)-(L-Arginino)succinate" RELATED [KEGG_COMPOUND] synonym: "N(omega)-(L-arginino)succinate" RELATED [ChEBI] synonym: "N-(L-arginino) succinate" RELATED [ChEBI] synonym: "N-(L-Arginino)succinate" RELATED [KEGG_COMPOUND] xref: CAS:2387-71-5 {source="KEGG COMPOUND"} xref: KEGG:C03406 xref: KNApSAcK:C00019688 is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H18N4O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H18N4O6/c11-5(8(17)18)2-1-3-13-10(12)14-6(9(19)20)4-7(15)16/h5-6H,1-4,11H2,(H,15,16)(H,17,18)(H,19,20)(H3,12,13,14)/t5-,6?/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KDZOASGQNOPSCU-ZBHICJROSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "290.27328" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "290.12263" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "N[C@@H](CCCNC(=N)NC(CC(O)=O)C(O)=O)C(O)=O" xsd:string [Term] id: CHEBI:15724 name: trimethylamine N-oxide namespace: chebi_ontology alt_id: CHEBI:15262 alt_id: CHEBI:15263 alt_id: CHEBI:27126 alt_id: CHEBI:9733 def: "A tertiary amine oxide resulting from the oxidation of the amino group of trimethylamine." [] subset: 3_STAR synonym: "(CH3)3NO" RELATED [IUPAC] synonym: "Me3N(+)O(-)" RELATED [ChEBI] synonym: "Me3N(O)" RELATED [ChEBI] synonym: "N(CH3)3O" RELATED [ChEBI] synonym: "N,N-dimethylmethanamine oxide" EXACT IUPAC_NAME [IUPAC] synonym: "TMAO" RELATED [NIST_Chemistry_WebBook] synonym: "Trimethylamine N-oxide" EXACT [KEGG_COMPOUND] synonym: "trimethylamine N-oxide" EXACT [UniProt] synonym: "trimethylamine oxide" RELATED [NIST_Chemistry_WebBook] synonym: "Trimethylaminoxid" RELATED [ChEBI] synonym: "trimethyloxamine" RELATED [ChemIDplus] xref: Beilstein:1734787 {source="Beilstein"} xref: CAS:1184-78-7 {source="KEGG COMPOUND"} xref: CAS:1184-78-7 {source="NIST Chemistry WebBook"} xref: CAS:1184-78-7 {source="ChemIDplus"} xref: Gmelin:1839 {source="Gmelin"} xref: HMDB:HMDB0000925 xref: KEGG:C01104 xref: MetaCyc:TRIMENTHLAMINE-N-O xref: PDBeChem:TMO xref: PMID:12683801 {source="Europe PMC"} xref: PMID:1453985 {source="Europe PMC"} xref: PMID:17697669 {source="Europe PMC"} xref: PMID:19425246 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: PMID:3170512 {source="Europe PMC"} xref: PMID:3674879 {source="Europe PMC"} xref: Reaxys:1734787 {source="Reaxys"} xref: Wikipedia:Trimethylamine_oxide is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H9NO" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H9NO/c1-4(2,3)5/h1-3H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UYPYRKYUKCHHIB-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "75.110" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "75.06841" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[N+](C)([O-])C" xsd:string [Term] id: CHEBI:15738 name: staurosporine namespace: chebi_ontology alt_id: CHEBI:15106 alt_id: CHEBI:45788 alt_id: CHEBI:9252 subset: 3_STAR synonym: "(+)-Staurosporine" RELATED [ChemIDplus] synonym: "(5S,6R,7R,9R)-6-methoxy-5-methyl-7-methylamino-6,7,8,9,15,16-hexahydro-5H,14H-5,9-epoxy-4b,9a,15-triazadibenzo[b,h]cyclonona[1,2,3,4-jkl]cyclopenta[e]-as-indacen-14-one" EXACT IUPAC_NAME [IUPAC] synonym: "AM-2282" RELATED [ChemIDplus] synonym: "antibiotic AM 2282" RELATED [ChemIDplus] synonym: "Staurosporin" RELATED [ChemIDplus] synonym: "Staurosporine" EXACT [KEGG_COMPOUND] synonym: "STS" RELATED [KEGG_COMPOUND] xref: CAS:62996-74-1 {source="ChemIDplus"} xref: CAS:62996-74-1 {source="KEGG COMPOUND"} xref: DrugBank:DB02010 xref: KEGG:C02079 xref: KNApSAcK:C00018127 xref: LINCS:LSM-1103 xref: MeSH:D019311 xref: NCIt:C1237 xref: PDBeChem:STU xref: PMID:15613975 {source="Europe PMC"} xref: PMID:15682296 {source="Europe PMC"} xref: PMID:18478334 {source="Europe PMC"} xref: PMID:22363408 {source="Europe PMC"} xref: PMID:32800439 {source="Europe PMC"} xref: PMID:34428735 {source="Europe PMC"} xref: Wikipedia:Staurosporine is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:37700 ! EC 2.7.11.13 (protein kinase C) inhibitor property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C28H26N4O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C28H26N4O3/c1-28-26(34-3)17(29-2)12-20(35-28)31-18-10-6-4-8-14(18)22-23-16(13-30-27(23)33)21-15-9-5-7-11-19(15)32(28)25(21)24(22)31/h4-11,17,20,26,29H,12-13H2,1-3H3,(H,30,33)/t17-,20-,26-,28+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HKSZLNNOFSGOKW-FYTWVXJKSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "466.541" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "466.20049" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN[C@@H]1C[C@H]2O[C@@](C)([C@@H]1OC)N1C3=C(C=CC=C3)C3=C1C1=C(C4=C(C=CC=C4)N21)C1=C3CNC1=O" xsd:string [Term] id: CHEBI:15756 name: hexadecanoic acid namespace: chebi_ontology alt_id: CHEBI:14730 alt_id: CHEBI:233028 alt_id: CHEBI:24540 alt_id: CHEBI:24541 alt_id: CHEBI:24542 alt_id: CHEBI:24550 alt_id: CHEBI:29889 alt_id: CHEBI:35978 alt_id: CHEBI:44952 def: "A straight-chain, sixteen-carbon, saturated long-chain fatty acid." [] subset: 3_STAR synonym: "1-hexyldecanoic acid" RELATED [HMDB] synonym: "1-Pentadecanecarboxylic acid" RELATED [ChemIDplus] synonym: "16:00" RELATED [ChEBI] synonym: "C16" RELATED [ChEBI] synonym: "C16 fatty acid" RELATED [HMDB] synonym: "C16:0" RELATED [LIPID_MAPS] synonym: "cetylic acid" RELATED [KEGG_COMPOUND] synonym: "CH3-[CH2]14-COOH" RELATED [IUPAC] synonym: "FA 16:0" RELATED [ChEBI] synonym: "Hexadecanoate" RELATED [KEGG_COMPOUND] synonym: "hexadecanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "hexadecoic acid" RELATED [ChEBI] synonym: "Hexadecylic acid" RELATED [HMDB] synonym: "Hexadecylic acid" RELATED [KEGG_COMPOUND] synonym: "Hexaectylic acid" RELATED [HMDB] synonym: "n-hexadecanoic acid" RELATED [NIST_Chemistry_WebBook] synonym: "n-hexadecoic acid" RELATED [NIST_Chemistry_WebBook] synonym: "Palmitate" RELATED [KEGG_COMPOUND] synonym: "PALMITIC ACID" RELATED [PDBeChem] synonym: "Palmitic acid" RELATED [KEGG_COMPOUND] synonym: "palmitic acid" RELATED [ChEBI] synonym: "Palmitinic acid" RELATED [HMDB] synonym: "Palmitinsaeure" RELATED [ChEBI] synonym: "Pentadecanecarboxylic acid" RELATED [ChemIDplus] xref: Beilstein:607489 {source="Beilstein"} xref: CAS:57-10-3 {source="NIST Chemistry WebBook"} xref: CAS:57-10-3 {source="ChemIDplus"} xref: CAS:57-10-3 {source="KEGG COMPOUND"} xref: DrugBank:DB03796 xref: Gmelin:190200 {source="Gmelin"} xref: HMDB:HMDB0000220 xref: KEGG:C00249 xref: KEGG:D05341 xref: KNApSAcK:C00001233 xref: KNApSAcK:C00030479 xref: LIPID_MAPS_instance:LMFA01010001 {source="LIPID MAPS"} xref: MetaCyc:PALMITATE xref: PDBeChem:PLM xref: PMID:12492626 {source="Europe PMC"} xref: PMID:15357969 {source="ChEMBL"} xref: PMID:1589452 {source="Europe PMC"} xref: PMID:16509590 {source="ChEMBL"} xref: PMID:16884313 {source="ChEMBL"} xref: PMID:17439666 {source="Europe PMC"} xref: PMID:17502136 {source="ChEMBL"} xref: PMID:20001317 {source="Europe PMC"} xref: PMID:22735334 {source="Europe PMC"} xref: PMID:25584012 {source="Europe PMC"} xref: PMID:28600633 {source="Europe PMC"} xref: PPDB:1336 xref: Reaxys:607489 {source="Reaxys"} xref: Wikipedia:Palmitic_acid is_a: CHEBI:35366 ! fatty acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C16H32O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C16H32O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16(17)18/h2-15H2,1H3,(H,17,18)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IPCSVZSSVZVIGE-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "256.42410" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "256.24023" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCCCCCCCCCC(O)=O" xsd:string [Term] id: CHEBI:15767 name: dichloromethane namespace: chebi_ontology alt_id: CHEBI:14139 alt_id: CHEBI:23701 alt_id: CHEBI:4504 def: "A member of the class of chloromethanes that is methane in which two of the hydrogens have been replaced by chlorine. A dense, non-flammible colourless liquid at room temperature (b.p. 40degreeC, d = 1.33) which is immiscible with water, it is widely used as a solvent, a paint stripper, and for the removal of caffeine from coffee and tea." [] subset: 3_STAR synonym: "chlorure de methylene" RELATED [ChemIDplus] synonym: "DCM" RELATED [NIST_Chemistry_WebBook] synonym: "Dichlormethan" RELATED [ChEBI] synonym: "Dichloromethane" EXACT [KEGG_COMPOUND] synonym: "dichloromethane" EXACT IUPAC_NAME [IUPAC] synonym: "dichloromethane" EXACT [UniProt] synonym: "dichloromethane" EXACT [ChEBI] synonym: "methane dichloride" RELATED [NIST_Chemistry_WebBook] synonym: "Methylenchlorid" RELATED [ChEBI] synonym: "methylene bichloride" RELATED [NIST_Chemistry_WebBook] synonym: "Methylene chloride" RELATED [KEGG_COMPOUND] synonym: "Methylene dichloride" RELATED [KEGG_COMPOUND] xref: Beilstein:1730800 {source="Beilstein"} xref: CAS:75-09-2 {source="NIST Chemistry WebBook"} xref: CAS:75-09-2 {source="ChemIDplus"} xref: CAS:75-09-2 {source="KEGG COMPOUND"} xref: Gmelin:1302 {source="Gmelin"} xref: HMDB:HMDB0031548 xref: KEGG:C02271 xref: KEGG:D02330 xref: MetaCyc:CPD-681 xref: Patent:US2792435 xref: Patent:US2979541 xref: Patent:US3126419 xref: PMID:11884241 {source="Europe PMC"} xref: PMID:19091298 {source="Europe PMC"} xref: PMID:8465711 {source="Europe PMC"} xref: Reaxys:1730800 {source="Reaxys"} xref: UM-BBD_compID:c0233 {source="UM-BBD"} xref: Wikipedia:Dichloromethane is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "CH2Cl2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/CH2Cl2/c2-1-3/h1H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YMWUJEATGCHHMB-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "84.93198" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "83.95336" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H]C([H])(Cl)Cl" xsd:string [Term] id: CHEBI:15793 name: 3-hydroxyanthranilic acid namespace: chebi_ontology alt_id: CHEBI:1536 alt_id: CHEBI:39887 def: "An aminobenzoic acid that is benzoic acid substituted at C-2 by an amine group and at C-3 by a hydroxy group. It is an intermediate in the metabolism of the amino acid tryptophan." [] subset: 3_STAR synonym: "2-Amino-3-hydroxy-benzoic acid" RELATED [ChemIDplus] synonym: "2-Amino-3-hydroxybenzoic acid" RELATED [ChemIDplus] synonym: "2-amino-3-hydroxybenzoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "3-Hydroxyanthranilic acid" EXACT [KEGG_COMPOUND] synonym: "3-Ohaa" RELATED [ChemIDplus] synonym: "3-Oxyanthranilic acid" RELATED [ChemIDplus] xref: CAS:548-93-6 {source="ChemIDplus"} xref: CAS:548-93-6 {source="NIST Chemistry WebBook"} xref: CAS:548-93-6 {source="KEGG COMPOUND"} xref: DrugBank:DB03644 xref: HMDB:HMDB0001476 xref: KEGG:C00632 xref: KNApSAcK:C00007568 xref: LINCS:LSM-20979 xref: MetaCyc:3-HYDROXY-ANTHRANILATE xref: PDBeChem:3HA xref: PMID:11392499 {source="Europe PMC"} xref: PMID:13321971 {source="Europe PMC"} xref: PMID:22711758 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: PMID:24200862 {source="Europe PMC"} xref: PMID:9126284 {source="Europe PMC"} xref: Reaxys:973356 {source="Reaxys"} xref: Wikipedia:3-hydroxyanthranilic_acid is_a: CHEBI:33709 ! amino acid is_a: CHEBI:33853 ! phenols property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H7NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H7NO3/c8-6-4(7(10)11)2-1-3-5(6)9/h1-3,9H,8H2,(H,10,11)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WJXSWCUQABXPFS-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "153.13542" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "153.04259" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Nc1c(O)cccc1C(O)=O" xsd:string [Term] id: CHEBI:15843 name: arachidonic acid namespace: chebi_ontology alt_id: CHEBI:22608 alt_id: CHEBI:2799 alt_id: CHEBI:40501 def: "A long-chain fatty acid that is a C20, polyunsaturated fatty acid having four (Z)-double bonds at positions 5, 8, 11 and 14." [] subset: 3_STAR synonym: "(5Z,8Z,11Z,14Z)-5,8,11,14-icosatetraenoic acid" RELATED [NIST_Chemistry_WebBook] synonym: "(5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "(5Z,8Z,11Z,14Z)-Icosatetraenoic acid" RELATED [KEGG_COMPOUND] synonym: "AA" RELATED [ChEBI] synonym: "all-cis-5,8,11,14-eicosatetraenoic acid" RELATED [ChEBI] synonym: "ARA" RELATED [ChEBI] synonym: "Arachidonate" RELATED [KEGG_COMPOUND] synonym: "ARACHIDONIC ACID" EXACT [PDBeChem] synonym: "Arachidonic acid" EXACT [KEGG_COMPOUND] synonym: "Arachidonsaeure" RELATED [ChEBI] synonym: "cis-5,8,11,14-Eicosatetraenoic acid" RELATED [KEGG_COMPOUND] synonym: "cis-Delta(5,8,11,14)-eicosatetraenoic acid" RELATED [ChEBI] xref: Beilstein:1913991 {source="Beilstein"} xref: CAS:506-32-1 {source="KEGG COMPOUND"} xref: CAS:506-32-1 {source="ChemIDplus"} xref: CAS:506-32-1 {source="NIST Chemistry WebBook"} xref: ChEMBL:116437 xref: ChemIDplus:506-32-1 xref: CiteXplore:18973997 xref: CiteXplore:2820055 xref: DrugBank:DB04557 xref: Gmelin:58972 {source="Gmelin"} xref: HMDB:HMDB0001043 xref: KEGG COMPOUND:506-32-1 xref: KEGG COMPOUND:C00219 xref: KEGG:C00219 xref: KNApSAcK:C00000388 xref: LIPID_MAPS_instance:LMFA01030001 {source="LIPID MAPS"} xref: MeSH:D016718 xref: MetaCyc:ARACHIDONIC_ACID xref: NCIt:C282 xref: NIST Chemistry WebBook:506-32-1 xref: PDBeChem:ACD xref: PMID:15129302 {source="Europe PMC"} xref: PMID:18931599 {source="Europe PMC"} xref: PMID:18973997 {source="Europe PMC"} xref: PMID:25584012 {source="Europe PMC"} xref: PMID:2820055 {source="Europe PMC"} xref: Reaxys:1913991 {source="Reaxys"} xref: SNOMEDCT:3792001 xref: Wikipedia:Arachidonic_acid is_a: CHEBI:35366 ! fatty acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H32O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H32O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-18-19-20(21)22/h6-7,9-10,12-13,15-16H,2-5,8,11,14,17-19H2,1H3,(H,21,22)/b7-6-,10-9-,13-12-,16-15-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YZXBAPSDXZZRGB-DOFZRALJSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "304.46690" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "304.24023" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCC\\C=C/C\\C=C/C\\C=C/C\\C=C/CCCC(O)=O" xsd:string [Term] id: CHEBI:15854 name: quinine namespace: chebi_ontology alt_id: CHEBI:127176 alt_id: CHEBI:15001 alt_id: CHEBI:26499 alt_id: CHEBI:355947 alt_id: CHEBI:569215 alt_id: CHEBI:602929 alt_id: CHEBI:8723 def: "A cinchona alkaloid that is cinchonidine in which the hydrogen at the 6-position of the quinoline ring is substituted by methoxy." [] subset: 3_STAR synonym: "(-)-Quinine" RELATED [KEGG_COMPOUND] synonym: "(-)-quinine" RELATED [ChemIDplus] synonym: "(8S,9R)-quinine" RELATED [NIST_Chemistry_WebBook] synonym: "(9R)-6'-methoxy-8alpha-cinchonan-9-ol" EXACT IUPAC_NAME [IUPAC] synonym: "(R)-(-)-quinine" RELATED [ChEBI] synonym: "(R)-(6-methoxyquinolin-4-yl)((2S,4S,8R)-8-vinylquinuclidin-2-yl)methanol" RELATED [ChEBI] synonym: "6'-methoxycinchonidine" RELATED [ChEBI] synonym: "Chinin" RELATED [ChemIDplus] synonym: "chinine" RELATED [ChEBI] synonym: "chininum" RELATED [ChEBI] synonym: "quinina" RELATED [ChEBI] synonym: "Quinine" EXACT [KEGG_COMPOUND] synonym: "quinine" EXACT [ChEMBL] xref: Beilstein:91867 {source="Beilstein"} xref: CAS:130-95-0 {source="ChemIDplus"} xref: CAS:130-95-0 {source="NIST Chemistry WebBook"} xref: CAS:130-95-0 {source="KEGG COMPOUND"} xref: Drug_Central:4523 {source="DrugCentral"} xref: DrugBank:DB00468 xref: KEGG:C06526 xref: KEGG:D08460 xref: KNApSAcK:C00002193 xref: PMID:10821711 {source="ChEMBL"} xref: PMID:10891117 {source="ChEMBL"} xref: PMID:10937718 {source="ChEMBL"} xref: PMID:11212126 {source="ChEMBL"} xref: PMID:11549443 {source="ChEMBL"} xref: PMID:11728183 {source="ChEMBL"} xref: PMID:11844668 {source="ChEMBL"} xref: PMID:11855978 {source="ChEMBL"} xref: PMID:12127529 {source="ChEMBL"} xref: PMID:12213073 {source="ChEMBL"} xref: PMID:12217353 {source="ChEMBL"} xref: PMID:12477351 {source="ChEMBL"} xref: PMID:12502361 {source="ChEMBL"} xref: PMID:12798326 {source="ChEMBL"} xref: PMID:12873511 {source="ChEMBL"} xref: PMID:14761192 {source="Europe PMC"} xref: PMID:15026051 {source="ChEMBL"} xref: PMID:15027870 {source="ChEMBL"} xref: PMID:15225721 {source="ChEMBL"} xref: PMID:15857133 {source="ChEMBL"} xref: PMID:16524728 {source="ChEMBL"} xref: PMID:16933872 {source="ChEMBL"} xref: PMID:17482816 {source="ChEMBL"} xref: PMID:17506538 {source="ChEMBL"} xref: PMID:17570664 {source="ChEMBL"} xref: PMID:17850126 {source="ChEMBL"} xref: PMID:18348514 {source="ChEMBL"} xref: PMID:18788725 {source="ChEMBL"} xref: PMID:2579237 {source="ChEMBL"} xref: PMID:2657065 {source="ChEMBL"} xref: PMID:7009867 {source="ChEMBL"} xref: PMID:8182707 {source="ChEMBL"} xref: Wikipedia:Quinine is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H24N2O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H24N2O2/c1-3-13-12-22-9-7-14(13)10-19(22)20(23)16-6-8-21-18-5-4-15(24-2)11-17(16)18/h3-6,8,11,13-14,19-20,23H,1,7,9-10,12H2,2H3/t13-,14-,19-,20+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LOUPRKONTZGTKE-WZBLMQSHSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "324.41680" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "324.18378" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]1(C[C@@H]2CC[N@]1C[C@@H]2C=C)[C@H](O)c1ccnc2ccc(OC)cc12" xsd:string [Term] id: CHEBI:15866 name: 2-deoxy-D-glucose namespace: chebi_ontology alt_id: CHEBI:1078 alt_id: CHEBI:11565 alt_id: CHEBI:11569 alt_id: CHEBI:19553 alt_id: CHEBI:57546 def: "A deoxyglucose that is D-glucose in which the hydroxy group at position 2 has been replaced by a hydrogen. It is an antimetabolite of glucose with antiviral activity, which acts by inhibiting the glycosylation of glycoproteins and glycolipids. Used as an antiherpes agent." [] subset: 3_STAR synonym: "2-Deoxy-D-arabino-hexose" RELATED [KEGG_COMPOUND] synonym: "2-deoxy-D-arabino-hexose" EXACT IUPAC_NAME [IUPAC] synonym: "2-Deoxy-D-glucose" EXACT [KEGG_COMPOUND] synonym: "2-Deoxy-D-mannose" RELATED [ChemIDplus] synonym: "D-2dGlc" RELATED [JCBN] synonym: "D-arabino-2-Deoxyhexose" RELATED [KEGG_COMPOUND] synonym: "Deoxyglucose" RELATED [ChemIDplus] xref: CAS:154-17-6 {source="KEGG COMPOUND"} xref: KEGG:C00586 xref: MeSH:D003847 xref: MetaCyc:2-DEOXY-D-GLUCOSE xref: NCIt:C116618 xref: PMID:17908557 {source="Europe PMC"} xref: Wikipedia:2-Deoxy-D-glucose is_a: CHEBI:16646 ! carbohydrate property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H12O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "164.15650" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "164.06847" xsd:string [Term] id: CHEBI:15882 name: phenol namespace: chebi_ontology alt_id: CHEBI:14777 alt_id: CHEBI:25966 alt_id: CHEBI:43543 alt_id: CHEBI:8071 def: "An organic hydroxy compound that consists of benzene bearing a single hydroxy substituent. The parent of the class of phenols." [] subset: 3_STAR synonym: "acide carbolique" RELATED [NIST_Chemistry_WebBook] synonym: "acide phenique" RELATED [ChEBI] synonym: "Benzenol" RELATED [KEGG_COMPOUND] synonym: "carbolic acid" RELATED [NIST_Chemistry_WebBook] synonym: "Carbolsaeure" RELATED [ChEBI] synonym: "Hydroxybenzene" RELATED [KEGG_COMPOUND] synonym: "Karbolsaeure" RELATED [ChEBI] synonym: "Oxybenzene" RELATED [HMDB] synonym: "Phenic acid" RELATED [HMDB] synonym: "Phenic acid" RELATED [KEGG_COMPOUND] synonym: "PHENOL" EXACT [PDBeChem] synonym: "Phenol" EXACT [KEGG_COMPOUND] synonym: "phenol" EXACT [UniProt] synonym: "phenol" EXACT [ChEBI] synonym: "phenol" EXACT IUPAC_NAME [IUPAC] synonym: "Phenylic acid" RELATED [KEGG_COMPOUND] synonym: "Phenylic alcohol" RELATED [HMDB] synonym: "PhOH" RELATED [ChemIDplus] xref: Beilstein:969616 {source="Beilstein"} xref: CAS:108-95-2 {source="NIST Chemistry WebBook"} xref: CAS:108-95-2 {source="ChemIDplus"} xref: CAS:108-95-2 {source="KEGG COMPOUND"} xref: Drug_Central:4266 {source="DrugCentral"} xref: DrugBank:DB03255 xref: Gmelin:2794 {source="Gmelin"} xref: HMDB:HMDB0000228 xref: KEGG:C00146 xref: KEGG:C15584 xref: KEGG:D00033 xref: KEGG:D06536 xref: KNApSAcK:C00002664 xref: PDBeChem:IPH xref: PMID:12058733 {source="Europe PMC"} xref: PMID:16953321 {source="Europe PMC"} xref: PMID:17852157 {source="Europe PMC"} xref: PMID:19029204 {source="Europe PMC"} xref: PMID:20886261 {source="Europe PMC"} xref: PMID:21492257 {source="Europe PMC"} xref: PMID:21689881 {source="Europe PMC"} xref: PMID:21809019 {source="Europe PMC"} xref: PMID:21822930 {source="Europe PMC"} xref: Reaxys:969616 {source="Reaxys"} xref: UM-BBD_compID:c0128 {source="UM-BBD"} xref: Wikipedia:Phenol is_a: CHEBI:33853 ! phenols property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H6O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H6O/c7-6-4-2-1-3-5-6/h1-5,7H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ISWSIDIOOBJBQZ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "94.11120" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "94.04186" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Oc1ccccc1" xsd:string [Term] id: CHEBI:15889 name: sterol namespace: chebi_ontology alt_id: CHEBI:13688 alt_id: CHEBI:15114 alt_id: CHEBI:26771 alt_id: CHEBI:9266 def: "Any 3-hydroxy steroid whose skeleton is closely related to cholestan-3-ol (additional carbon atoms may be present in the side chain)." [] subset: 3_STAR synonym: "3-hydroxysteroids" RELATED [ChEBI] synonym: "a sterol" RELATED [UniProt] synonym: "Sterol" EXACT [KEGG_COMPOUND] synonym: "sterols" EXACT IUPAC_NAME [IUPAC] xref: KEGG:C00370 xref: LIPID_MAPS_class:LMST01 {source="LIPID MAPS"} xref: MetaCyc:Sterols xref: Wikipedia:Sterol is_a: CHEBI:35341 ! steroid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H31OR" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "275.450" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "275.23749" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C12C(C3C(C(CC3)*)(C)CC1)CCC4C2(CCC(C4)O)C" xsd:string [Term] id: CHEBI:15891 name: taurine namespace: chebi_ontology alt_id: CHEBI:15195 alt_id: CHEBI:26852 alt_id: CHEBI:45877 alt_id: CHEBI:9406 def: "An amino sulfonic acid that is the 2-amino derivative of ethanesulfonic acid. It is a naturally occurring amino acid derived from methionine and cysteine metabolism. An abundant component of fish- and meat-based foods, it has been used as an oral supplement in the treatment of disorders such as cystic fibrosis and hypertension." [] subset: 3_STAR synonym: "2-Aminoethanesulfonic acid" RELATED [KEGG_COMPOUND] synonym: "2-aminoethanesulfonic acid" EXACT IUPAC_NAME [IUPAC] synonym: "2-aminoethyl sulfonate" RELATED [IUBMB] synonym: "Aminoethylsulfonic acid" RELATED [KEGG_COMPOUND] synonym: "beta-aminoethylsulfonic acid" RELATED [NIST_Chemistry_WebBook] synonym: "Taurine" EXACT [KEGG_COMPOUND] xref: Beilstein:1751215 {source="Beilstein"} xref: CAS:107-35-7 {source="ChemIDplus"} xref: CAS:107-35-7 {source="NIST Chemistry WebBook"} xref: CAS:107-35-7 {source="KEGG COMPOUND"} xref: Drug_Central:4486 {source="DrugCentral"} xref: DrugBank:DB01956 xref: Gmelin:82121 {source="Gmelin"} xref: HMDB:HMDB0000251 xref: KEGG:C00245 xref: KEGG:D00047 xref: KNApSAcK:C00048188 xref: MetaCyc:TAURINE xref: PDBeChem:TAU xref: PMID:10098958 {source="Europe PMC"} xref: PMID:10325611 {source="Europe PMC"} xref: PMID:10349454 {source="Europe PMC"} xref: PMID:10827156 {source="Europe PMC"} xref: PMID:11162030 {source="Europe PMC"} xref: PMID:11842876 {source="Europe PMC"} xref: PMID:11918831 {source="Europe PMC"} xref: PMID:11931837 {source="Europe PMC"} xref: PMID:12297216 {source="Europe PMC"} xref: PMID:12499349 {source="Europe PMC"} xref: PMID:12834252 {source="Europe PMC"} xref: PMID:14992292 {source="Europe PMC"} xref: PMID:15503229 {source="Europe PMC"} xref: PMID:15780050 {source="Europe PMC"} xref: PMID:15911239 {source="Europe PMC"} xref: PMID:16169526 {source="Europe PMC"} xref: PMID:16444816 {source="Europe PMC"} xref: PMID:16923232 {source="Europe PMC"} xref: PMID:17053427 {source="Europe PMC"} xref: PMID:17081118 {source="Europe PMC"} xref: PMID:17875433 {source="Europe PMC"} xref: PMID:17997039 {source="Europe PMC"} xref: PMID:18060526 {source="Europe PMC"} xref: PMID:18171928 {source="Europe PMC"} xref: PMID:19074966 {source="Europe PMC"} xref: PMID:19212411 {source="Europe PMC"} xref: PMID:19309105 {source="Europe PMC"} xref: PMID:19940987 {source="Europe PMC"} xref: PMID:2122710 {source="Europe PMC"} xref: PMID:21761941 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: PMID:2370482 {source="Europe PMC"} xref: PMID:24027187 {source="Europe PMC"} xref: PMID:2494044 {source="Europe PMC"} xref: PMID:27291853 {source="Europe PMC"} xref: PMID:27334436 {source="Europe PMC"} xref: PMID:27345710 {source="Europe PMC"} xref: PMID:27380030 {source="Europe PMC"} xref: PMID:27412799 {source="Europe PMC"} xref: PMID:27471162 {source="Europe PMC"} xref: PMID:27535560 {source="Europe PMC"} xref: PMID:3106924 {source="Europe PMC"} xref: PMID:3393260 {source="Europe PMC"} xref: PMID:6198473 {source="Europe PMC"} xref: PMID:7588651 {source="Europe PMC"} xref: PMID:8692051 {source="Europe PMC"} xref: PMID:8818047 {source="Europe PMC"} xref: PMID:9635063 {source="Europe PMC"} xref: Reaxys:1751215 {source="Reaxys"} xref: Wikipedia:Taurine is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C2H7NO3S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C2H7NO3S/c3-1-2-7(4,5)6/h1-3H2,(H,4,5,6)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XOAAWQZATWQOTB-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "125.148" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "125.01466" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(CS(O)(=O)=O)N" xsd:string [Term] id: CHEBI:15901 name: 5,6-dihydrouracil namespace: chebi_ontology alt_id: CHEBI:12078 alt_id: CHEBI:19360 alt_id: CHEBI:1999 alt_id: CHEBI:20511 alt_id: CHEBI:42107 alt_id: CHEBI:921 def: "A pyrimidine obtained by formal addition of hydrogen across the 5,6-position of uracil." [] subset: 3_STAR synonym: "2,4(1H,3H)-Pyrimidinedione, dihydro-" RELATED [KEGG_COMPOUND] synonym: "2,4-Dioxotetrahydropyrimidine" RELATED [KEGG_COMPOUND] synonym: "5,6-Dihydro-2,4-dihydroxypyrimidine" RELATED [KEGG_COMPOUND] synonym: "5,6-Dihydrouracil" EXACT [KEGG_COMPOUND] synonym: "5,6-dihydrouracil" EXACT [UniProt] synonym: "Dihydro-2,4(1H,3H)-pyrimidinedione" RELATED [KEGG_COMPOUND] synonym: "DIHYDROPYRIMIDINE-2,4(1H,3H)-DIONE" RELATED [PDBeChem] synonym: "dihydropyrimidine-2,4(1H,3H)-dione" EXACT IUPAC_NAME [IUPAC] synonym: "Dihydrouracil" RELATED [KEGG_COMPOUND] synonym: "Dihydrouracile" RELATED [KEGG_COMPOUND] synonym: "Hydrouracil" RELATED [KEGG_COMPOUND] xref: Beilstein:112496 {source="Beilstein"} xref: Beilstein:1851498 {source="Beilstein"} xref: CAS:504-07-4 {source="NIST Chemistry WebBook"} xref: CAS:504-07-4 {source="ChemIDplus"} xref: CAS:504-07-4 {source="KEGG COMPOUND"} xref: HMDB:HMDB0000076 xref: KEGG:C00429 xref: MetaCyc:DI-H-URACIL xref: PDBeChem:DUC xref: PMID:15724255 {source="Europe PMC"} xref: PMID:18619742 {source="Europe PMC"} xref: PMID:20926004 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: Reaxys:112496 {source="Reaxys"} xref: Wikipedia:Dihydrouracil is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H6N2O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H6N2O2/c7-3-1-2-5-4(8)6-3/h1-2H2,(H2,5,6,7,8)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OIVLITBTBDPEFK-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "114.10272" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "114.04293" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O=C1CCNC(=O)N1" xsd:string [Term] id: CHEBI:15929 name: (-)-methyl jasmonate namespace: chebi_ontology alt_id: CHEBI:14602 alt_id: CHEBI:25243 alt_id: CHEBI:6879 def: "A jasmonate ester that is the methyl ester of jasmonic acid." [] subset: 3_STAR synonym: "(-)-Methyl jasmonate" EXACT [KEGG_COMPOUND] synonym: "3-oxo-2-(2-pentenyl)cyclopentaneacetic acid methyl ester" RELATED [ChEBI] synonym: "methyl (-)-jasmonate" RELATED [UniProt] synonym: "methyl (-)-jasmonate" RELATED [ChEBI] synonym: "Methyl jasmonate" RELATED [KEGG_COMPOUND] synonym: "methyl {(1R,2R)-3-oxo-2-[(2Z)-pent-2-en-1-yl]cyclopentyl}acetate" EXACT IUPAC_NAME [IUPAC] xref: CAS:1211-29-6 {source="ChemIDplus"} xref: CAS:1211-29-6 {source="KEGG COMPOUND"} xref: HMDB:HMDB0036583 xref: KEGG COMPOUND:1211-29-6 xref: KEGG COMPOUND:C11512 xref: KEGG:C11512 xref: KNApSAcK:C00000219 xref: LIPID_MAPS_instance:LMFA02020010 {source="LIPID MAPS"} xref: MeSH:C072239 xref: MetaCyc:CPD1F-2 xref: PMID:17043086 {source="Europe PMC"} xref: PMID:18038760 {source="Europe PMC"} xref: PMID:24497113 {source="Europe PMC"} xref: Reaxys:4232548 {source="Reaxys"} xref: Wikipedia:Methyl_jasmonate is_a: CHEBI:24913 ! isoprenoid is_a: CHEBI:35366 ! fatty acid relationship: has_role EFO:0001824 ! hormone role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C13H20O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C13H20O3/c1-3-4-5-6-11-10(7-8-12(11)14)9-13(15)16-2/h4-5,10-11H,3,6-9H2,1-2H3/b5-4-/t10-,11-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GEWDNTWNSAZUDX-WQMVXFAESA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "224.29610" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "224.14124" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC\\C=C/C[C@@H]1[C@@H](CC(=O)OC)CCC1=O" xsd:string [Term] id: CHEBI:15930 name: atrazine namespace: chebi_ontology alt_id: CHEBI:13865 alt_id: CHEBI:22672 alt_id: CHEBI:2916 alt_id: CHEBI:49479 def: "A diamino-1,3,5-triazine that is 1,3,5-triazine-2,4-diamine substituted by a chloro group at position 6 while one of hydrogens of each amino group is replaced respectively by an ethyl and a propan-2-yl group." [] subset: 3_STAR synonym: "2-chloro-4-(ethylamino)-6-(isopropylamino)-1,3,5-triazine" RELATED [IUBMB] synonym: "2-chloro-4-ethylamino-6-isopropylamino-1,3,5-triazine" RELATED [ChemIDplus] synonym: "2-chloro-4-ethylamino-6-isopropylamino-s-triazine" RELATED [ChemIDplus] synonym: "2-CHLORO-4-ISOPROPYLAMINO-6-ETHYLAMINO-1,3,5-TRIAZINE" RELATED [PDBeChem] synonym: "2-ethylamino-4-isopropylamino-6-chloro-s-triazine" RELATED [NIST_Chemistry_WebBook] synonym: "6-chloro-N-ethyl-N'-(1-methylethyl)-1,3,5-triazine-2,4-diamine" RELATED [NIST_Chemistry_WebBook] synonym: "6-chloro-N-ethyl-N'-(propan-2-yl)-1,3,5-triazine-2,4-diamine" EXACT IUPAC_NAME [IUPAC] synonym: "6-chloro-N-ethyl-N'-isopropyl-1,3,5-triazine-2,4-diamine" RELATED [IUPAC] synonym: "Atrazine" EXACT [KEGG_COMPOUND] synonym: "atrazine" EXACT [UniProt] xref: Beilstein:612020 {source="Beilstein"} xref: CAS:1912-24-9 {source="ChemIDplus"} xref: CAS:1912-24-9 {source="KEGG COMPOUND"} xref: CAS:1912-24-9 {source="NIST Chemistry WebBook"} xref: DrugBank:DB07392 xref: HMDB:HMDB0041830 xref: KEGG:C06551 xref: LINCS:LSM-18990 xref: MeSH:D001280 xref: MetaCyc:ATRAZINE xref: NCIt:C26311 xref: PDBeChem:ATZ xref: PMID:24211529 {source="Europe PMC"} xref: PMID:24239819 {source="Europe PMC"} xref: PMID:24246238 {source="Europe PMC"} xref: PPDB:43 xref: Reaxys:612020 {source="Reaxys"} xref: SNOMEDCT:85612002 xref: UM-BBD_compID:c0002 {source="UM-BBD"} xref: Wikipedia:Atrazine is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:33286 ! agrochemical property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H14ClN5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H14ClN5/c1-4-10-7-12-6(9)13-8(14-7)11-5(2)3/h5H,4H2,1-3H3,(H2,10,11,12,13,14)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "MXWJVTOOROXGIU-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "215.68316" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "215.09377" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCNc1nc(Cl)nc(NC(C)C)n1" xsd:string [Term] id: CHEBI:15940 name: nicotinic acid namespace: chebi_ontology alt_id: CHEBI:25538 alt_id: CHEBI:44319 alt_id: CHEBI:7559 def: "A pyridinemonocarboxylic acid that is pyridine in which the hydrogen at position 3 is replaced by a carboxy group." [] subset: 3_STAR synonym: "3-carboxylpyridine" RELATED [ChemIDplus] synonym: "3-carboxypyridine" RELATED [NIST_Chemistry_WebBook] synonym: "3-pyridinecarboxylic acid" RELATED [KEGG_COMPOUND] synonym: "3-Pyridylcarboxylic acid" RELATED [HMDB] synonym: "acide nicotinique" RELATED INN [WHO_MedNet] synonym: "acido nicotinico" RELATED INN [WHO_MedNet] synonym: "acidum nicotinicum" RELATED INN [WHO_MedNet] synonym: "anti-pellagra vitamin" RELATED [NIST_Chemistry_WebBook] synonym: "beta-pyridinecarboxylic acid" RELATED [ChEBI] synonym: "m-pyridinecarboxylic acid" RELATED [NIST_Chemistry_WebBook] synonym: "Niacin" RELATED [KEGG_COMPOUND] synonym: "Niacor" RELATED BRAND_NAME [KEGG_DRUG] synonym: "Niaspan" RELATED BRAND_NAME [KEGG_DRUG] synonym: "NICOTINIC ACID" EXACT [PDBeChem] synonym: "Nicotinic acid" EXACT [KEGG_COMPOUND] synonym: "nicotinic acid" EXACT IUPAC_NAME [IUPAC] synonym: "nicotinic acid" RELATED INN [WHO_MedNet] synonym: "Nicotinsaure" RELATED [ChemIDplus] synonym: "Nikotinsaeure" RELATED [ChEBI] synonym: "P.P. factor" RELATED [NIST_Chemistry_WebBook] synonym: "pellagra preventive factor" RELATED [NIST_Chemistry_WebBook] synonym: "PP factor" RELATED [NIST_Chemistry_WebBook] synonym: "pyridine-3-carboxylic acid" EXACT IUPAC_NAME [IUPAC] synonym: "pyridine-beta-carboxylic acid" RELATED [NIST_Chemistry_WebBook] synonym: "pyridine-carboxylique-3" RELATED [ChemIDplus] synonym: "vitamin B3" RELATED [ChEBI] xref: AGR:IND607088605 {source="Europe PMC"} xref: Beilstein:109591 {source="Beilstein"} xref: CAS:59-67-6 {source="KEGG COMPOUND"} xref: CAS:59-67-6 {source="ChemIDplus"} xref: CAS:59-67-6 {source="NIST Chemistry WebBook"} xref: Chemspider:913 xref: Drug_Central:2835 {source="DrugCentral"} xref: DrugBank:DB00627 xref: FooDB:FDB001014 xref: Gmelin:3340 {source="Gmelin"} xref: HMDB:HMDB0001488 xref: KEGG:C00253 xref: KEGG:D00049 xref: KNApSAcK:C00000208 xref: LINCS:LSM-4676 xref: MetaCyc:NIACINE xref: PDBeChem:NIO xref: PMID:10540864 {source="Europe PMC"} xref: PMID:113218 {source="Europe PMC"} xref: PMID:12563315 {source="Europe PMC"} xref: PMID:12789870 {source="Europe PMC"} xref: PMID:135660 {source="Europe PMC"} xref: PMID:14550884 {source="Europe PMC"} xref: PMID:15037193 {source="Europe PMC"} xref: PMID:15183629 {source="Europe PMC"} xref: PMID:15205990 {source="Europe PMC"} xref: PMID:15311728 {source="Europe PMC"} xref: PMID:15627518 {source="Europe PMC"} xref: PMID:15651982 {source="Europe PMC"} xref: PMID:16018787 {source="Europe PMC"} xref: PMID:16172771 {source="Europe PMC"} xref: PMID:16322787 {source="Europe PMC"} xref: PMID:16400392 {source="Europe PMC"} xref: PMID:16449845 {source="Europe PMC"} xref: PMID:16767301 {source="Europe PMC"} xref: PMID:16877271 {source="Europe PMC"} xref: PMID:16945375 {source="Europe PMC"} xref: PMID:18037924 {source="Europe PMC"} xref: PMID:182198 {source="Europe PMC"} xref: PMID:186078 {source="Europe PMC"} xref: PMID:18993152 {source="Europe PMC"} xref: PMID:18996527 {source="Europe PMC"} xref: PMID:19369827 {source="Europe PMC"} xref: PMID:19592242 {source="Europe PMC"} xref: PMID:19678716 {source="Europe PMC"} xref: PMID:19779335 {source="Europe PMC"} xref: PMID:20979384 {source="Europe PMC"} xref: PMID:21632263 {source="Europe PMC"} xref: PMID:22116693 {source="Europe PMC"} xref: PMID:22155410 {source="Europe PMC"} xref: PMID:22229411 {source="Europe PMC"} xref: PMID:22366213 {source="Europe PMC"} xref: PMID:22458880 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: PMID:24029555 {source="Europe PMC"} xref: PMID:24568240 {source="Europe PMC"} xref: PMID:24675661 {source="Europe PMC"} xref: PMID:24848081 {source="Europe PMC"} xref: PMID:24975217 {source="Europe PMC"} xref: PMID:25040591 {source="Europe PMC"} xref: PMID:25241762 {source="Europe PMC"} xref: PMID:25429652 {source="Europe PMC"} xref: PMID:32954525 {source="Europe PMC"} xref: PMID:33273654 {source="Europe PMC"} xref: PMID:33932650 {source="Europe PMC"} xref: PMID:34066686 {source="Europe PMC"} xref: PMID:34085526 {source="Europe PMC"} xref: PMID:34117670 {source="Europe PMC"} xref: PMID:4033386 {source="Europe PMC"} xref: PMID:4259917 {source="Europe PMC"} xref: PMID:582105 {source="Europe PMC"} xref: PMID:699281 {source="Europe PMC"} xref: PMID:7217784 {source="Europe PMC"} xref: PMID:7581845 {source="Europe PMC"} xref: PMID:8306147 {source="Europe PMC"} xref: PMID:8423912 {source="Europe PMC"} xref: PMID:8679452 {source="Europe PMC"} xref: PMID:9107536 {source="Europe PMC"} xref: Reaxys:109591 {source="Reaxys"} xref: Wikipedia:Niacin is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H5NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H5NO2/c8-6(9)5-2-1-3-7-4-5/h1-4H,(H,8,9)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PVNIIMVLHYAWGP-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "123.10944" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "123.03203" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)c1cccnc1" xsd:string [Term] id: CHEBI:15956 name: biotin namespace: chebi_ontology alt_id: CHEBI:13905 alt_id: CHEBI:22882 alt_id: CHEBI:22884 alt_id: CHEBI:3108 alt_id: CHEBI:41236 def: "An organic heterobicyclic compound that consists of 2-oxohexahydro-1H-thieno[3,4-d]imidazole having a valeric acid substituent attached to the tetrahydrothiophene ring. The parent of the class of biotins." [] subset: 3_STAR synonym: "(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valeric acid" RELATED [HMDB] synonym: "(3aS,4S,6aR)-Hexahydro-2-oxo-1H-thieno[3,4-d]imidazole-4-valeric acid" RELATED [HMDB] synonym: "5-(2-oxohexahydro-1H-thieno[3,4-d]imidazol-4-yl)pentanoic acid" RELATED [HMDB] synonym: "5-[(3aS,4S,6aR)-2-oxohexahydro-1H-thieno[3,4-d]imidazol-4-yl]pentanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "BIOTIN" EXACT [PDBeChem] synonym: "biotin" RELATED INN [WHO_MedNet] synonym: "biotina" RELATED INN [WHO_MedNet] synonym: "biotine" RELATED INN [WHO_MedNet] synonym: "biotinum" RELATED INN [WHO_MedNet] synonym: "cis-(+)-Tetrahydro-2-oxothieno[3,4]imidazoline-4-valeric acid" RELATED [HMDB] synonym: "cis-Hexahydro-2-oxo-1H-thieno(3,4)imidazole-4-valeric acid" RELATED [HMDB] synonym: "cis-Tetrahydro-2-oxothieno(3,4-d)imidazoline-4-valeric acid" RELATED [HMDB] synonym: "Coenzyme R" RELATED [KEGG_COMPOUND] synonym: "D-(+)-biotin" RELATED [NIST_Chemistry_WebBook] synonym: "D-Biotin" RELATED [KEGG_COMPOUND] synonym: "vitamin B7" RELATED [NIST_Chemistry_WebBook] synonym: "Vitamin H" RELATED [KEGG_COMPOUND] xref: Beilstein:86838 {source="Beilstein"} xref: CAS:58-85-5 {source="NIST Chemistry WebBook"} xref: CAS:58-85-5 {source="KEGG COMPOUND"} xref: CAS:58-85-5 {source="ChemIDplus"} xref: Chemspider:149962 xref: COMe:MOL000144 xref: Drug_Central:373 {source="DrugCentral"} xref: DrugBank:DB00121 xref: FooDB:FDB014510 xref: Gmelin:1918703 {source="Gmelin"} xref: HMDB:HMDB0000030 xref: KEGG:C00120 xref: KEGG:D00029 xref: KNApSAcK:C00000756 xref: LINCS:LSM-3994 xref: MetaCyc:BIOTIN xref: PDBeChem:BTN xref: PMCID:PMC8089577 {source="Europe PMC"} xref: PMID:10064317 {source="Europe PMC"} xref: PMID:10215065 {source="Europe PMC"} xref: PMID:10577274 {source="Europe PMC"} xref: PMID:11435506 {source="Europe PMC"} xref: PMID:11481419 {source="Europe PMC"} xref: PMID:11800048 {source="Europe PMC"} xref: PMID:12055344 {source="Europe PMC"} xref: PMID:12070309 {source="Europe PMC"} xref: PMID:12603856 {source="Europe PMC"} xref: PMID:12803839 {source="Europe PMC"} xref: PMID:15012185 {source="Europe PMC"} xref: PMID:15202718 {source="Europe PMC"} xref: PMID:15272000 {source="Europe PMC"} xref: PMID:15690449 {source="Europe PMC"} xref: PMID:15863846 {source="Europe PMC"} xref: PMID:15899401 {source="Europe PMC"} xref: PMID:15992684 {source="Europe PMC"} xref: PMID:16011464 {source="Europe PMC"} xref: PMID:16195795 {source="Europe PMC"} xref: PMID:16419467 {source="Europe PMC"} xref: PMID:16676358 {source="Europe PMC"} xref: PMID:16677798 {source="Europe PMC"} xref: PMID:16704206 {source="Europe PMC"} xref: PMID:16769720 {source="Europe PMC"} xref: PMID:17297119 {source="Europe PMC"} xref: PMID:1814646 {source="Europe PMC"} xref: PMID:18202531 {source="Europe PMC"} xref: PMID:18452485 {source="Europe PMC"} xref: PMID:18509457 {source="Europe PMC"} xref: PMID:19212411 {source="Europe PMC"} xref: PMID:19319844 {source="Europe PMC"} xref: PMID:19727438 {source="Europe PMC"} xref: PMID:19928962 {source="Europe PMC"} xref: PMID:20967359 {source="Europe PMC"} xref: PMID:20974274 {source="Europe PMC"} xref: PMID:2100006 {source="Europe PMC"} xref: PMID:21248194 {source="Europe PMC"} xref: PMID:21356565 {source="Europe PMC"} xref: PMID:21373679 {source="Europe PMC"} xref: PMID:21596550 {source="Europe PMC"} xref: PMID:21871906 {source="Europe PMC"} xref: PMID:25515858 {source="Europe PMC"} xref: PMID:33346513 {source="Europe PMC"} xref: PMID:33461365 {source="Europe PMC"} xref: PMID:34077272 {source="Europe PMC"} xref: PMID:8333586 {source="Europe PMC"} xref: PMID:8750932 {source="Europe PMC"} xref: PMID:9022537 {source="Europe PMC"} xref: PMID:9038855 {source="Europe PMC"} xref: PMID:9094878 {source="Europe PMC"} xref: PMID:9164991 {source="Europe PMC"} xref: PMID:9176832 {source="Europe PMC"} xref: PMID:9371938 {source="Europe PMC"} xref: PMID:9416479 {source="Europe PMC"} xref: Reaxys:86838 {source="Reaxys"} xref: Wikipedia:Biotin is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H16N2O3S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H16N2O3S/c13-8(14)4-2-1-3-7-9-6(5-16-7)11-10(15)12-9/h6-7,9H,1-5H2,(H,13,14)(H2,11,12,15)/t6-,7-,9-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YBJHBAHKTGYVGT-ZKWXMUAHSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "244.31172" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "244.08816" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]12CS[C@@H](CCCCC(O)=O)[C@@]1([H])NC(=O)N2" xsd:string [Term] id: CHEBI:15963 name: ribitol namespace: chebi_ontology alt_id: CHEBI:15043 alt_id: CHEBI:21074 alt_id: CHEBI:26552 alt_id: CHEBI:27854 alt_id: CHEBI:4230 alt_id: CHEBI:48505 alt_id: CHEBI:57591 alt_id: CHEBI:8841 def: "A pentitol (five-carbon sugar alcohol) having meso-configuration, being derived from ribose by reduction of the carbonyl group. It occurs naturally in the plant Adonis vernalis." [] subset: 3_STAR synonym: "(2R,3s,4S)-pentane-1,2,3,4,5-pentol" EXACT IUPAC_NAME [IUPAC] synonym: "(2R,3s,4S)-pentane-1,2,3,4,5-pentol" RELATED [HMDB] synonym: "Adonitol" RELATED [KEGG_COMPOUND] synonym: "D-Adonitol" RELATED [KEGG_COMPOUND] synonym: "D-Ribitol" RELATED [KEGG_COMPOUND] synonym: "L-ribitol" RELATED [ChEBI] synonym: "meso-ribitol" EXACT IUPAC_NAME [IUPAC] synonym: "Ribitol" EXACT [KEGG_COMPOUND] synonym: "ribitol" EXACT [UniProt] xref: Beilstein:1720524 {source="ChemIDplus"} xref: CAS:488-81-3 {source="ChemIDplus"} xref: CAS:488-81-3 {source="NIST Chemistry WebBook"} xref: CAS:488-81-3 {source="KEGG COMPOUND"} xref: Gmelin:82894 {source="Gmelin"} xref: HMDB:HMDB0000508 xref: KEGG:C00474 xref: KNApSAcK:C00001171 xref: MetaCyc:RIBITOL xref: PMID:15234337 {source="Europe PMC"} xref: PMID:16664320 {source="Europe PMC"} xref: PMID:16901854 {source="Europe PMC"} xref: PMID:17336832 {source="Europe PMC"} xref: PMID:17979222 {source="Europe PMC"} xref: PMID:23564164 {source="Europe PMC"} xref: PMID:24643482 {source="Europe PMC"} xref: PMID:25108762 {source="Europe PMC"} xref: Reaxys:1720524 {source="Reaxys"} xref: Wikipedia:Ribitol is_a: CHEBI:16646 ! carbohydrate property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H12O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H12O5/c6-1-3(8)5(10)4(9)2-7/h3-10H,1-2H2/t3-,4+,5-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HEBKCHPVOIAQTA-ZXFHETKHSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "152.14578" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "152.06847" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC[C@H](O)[C@H](O)[C@H](O)CO" xsd:string [Term] id: CHEBI:15978 name: sn-glycerol 3-phosphate namespace: chebi_ontology alt_id: CHEBI:10648 alt_id: CHEBI:12843 alt_id: CHEBI:12848 alt_id: CHEBI:26705 alt_id: CHEBI:42793 def: "An sn-glycerol 3-phosphate having unsubstituted hydroxy groups." [] subset: 3_STAR synonym: "(2R)-2,3-dihydroxypropyl dihydrogen phosphate" EXACT IUPAC_NAME [IUPAC] synonym: "(R)-glycerol 1-phosphate" RELATED [ChEBI] synonym: "D-(glycerol 1-phosphate)" RELATED [CBN] synonym: "D-Glycerol 1-phosphate" RELATED [KEGG_COMPOUND] synonym: "Glycerol-3-phosphate" RELATED [KEGG_COMPOUND] synonym: "Glycerophosphoric acid" RELATED [KEGG_COMPOUND] synonym: "L-(glycerol 3-phosphate)" RELATED [CBN] synonym: "phosphoric acid mono-((R)-2,3-dihydroxy-propyl) ester" RELATED [ChEBI] synonym: "Phosphorsaeure-mono-((R)-2,3-dihydroxy-propylester)" RELATED [ChEBI] synonym: "sn-glycerol 3-(dihydrogen phosphate)" EXACT IUPAC_NAME [IUPAC] synonym: "sn-Glycerol 3-phosphate" EXACT [KEGG_COMPOUND] synonym: "SN-GLYCEROL-3-PHOSPHATE" RELATED [PDBeChem] synonym: "sn-Gro-1-P" RELATED [KEGG_COMPOUND] xref: Beilstein:1723975 {source="Beilstein"} xref: CAS:17989-41-2 {source="KEGG COMPOUND"} xref: KEGG:C00093 xref: KNApSAcK:C00007288 xref: MetaCyc:GLYCEROL-3P xref: PDBeChem:G3P xref: PDBeChem:GP9 xref: PMID:16745347 {source="Europe PMC"} xref: PMID:1694860 {source="Europe PMC"} xref: PMID:19049970 {source="Europe PMC"} xref: Reaxys:1723975 {source="Reaxys"} is_a: CHEBI:26020 ! phosphate property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H9O6P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H9O6P/c4-1-3(5)2-9-10(6,7)8/h3-5H,1-2H2,(H2,6,7,8)/t3-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "AWUCVROLDVIAJX-GSVOUGTGSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "172.07372" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "172.01368" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC[C@@H](O)COP(O)(O)=O" xsd:string [Term] id: CHEBI:16010 name: 5-oxoproline namespace: chebi_ontology alt_id: CHEBI:12157 alt_id: CHEBI:20624 alt_id: CHEBI:2116 alt_id: CHEBI:44943 def: "An oxoproline having the oxo group placed at the 5-position. It is an intermediate metabolite in the glutathione cycle." [] subset: 3_STAR synonym: "2-pyrrolidone-5-carboxylic acid" RELATED [ChEBI] synonym: "5-oxo-DL-proline" RELATED [ChEBI] synonym: "5-OXOPROLINE" EXACT [PDBeChem] synonym: "5-Oxoproline" EXACT [KEGG_COMPOUND] synonym: "5-oxoproline" EXACT IUPAC_NAME [IUPAC] synonym: "5-oxopyrrolidine-2-carboxylic acid" EXACT IUPAC_NAME [IUPAC] synonym: "5-Pyrrolidone-2-carboxylic acid" RELATED [KEGG_COMPOUND] synonym: "Glp" RELATED [IUPAC] synonym: "Pyroglutamate" RELATED [KEGG_COMPOUND] synonym: "Pyroglutamic acid" RELATED [KEGG_COMPOUND] xref: Beilstein:82131 {source="Beilstein"} xref: CAS:149-87-1 {source="ChemIDplus"} xref: CAS:149-87-1 {source="NIST Chemistry WebBook"} xref: PMID:17439666 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: PMID:23217740 {source="Europe PMC"} xref: Reaxys:82131 {source="Reaxys"} xref: Wikipedia:Pyroglutamic_acid is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H7NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H7NO3/c7-4-2-1-3(6-4)5(8)9/h3H,1-2H2,(H,6,7)(H,8,9)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ODHCTXKNWHHXJC-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "129.11400" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "129.04259" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)C1CCC(=O)N1" xsd:string [Term] id: CHEBI:16020 name: 1-methyladenosine namespace: chebi_ontology alt_id: CHEBI:11266 alt_id: CHEBI:19061 alt_id: CHEBI:643 def: "A methyladenosine carrying a methyl substituent at position 1." [] subset: 3_STAR synonym: "1-Methyladenosine" EXACT [KEGG_COMPOUND] synonym: "1-methyladenosine" EXACT [UniProt] synonym: "1-methyladenosine" EXACT IUPAC_NAME [IUPAC] synonym: "m1a" RELATED [ChEBI] xref: CAS:15763-06-1 {source="KEGG COMPOUND"} xref: CAS:15763-06-1 {source="ChemIDplus"} xref: HMDB:HMDB0003331 xref: KEGG:C02494 xref: MetaCyc:1-METHYLADENOSINE xref: PMID:24177150 {source="Europe PMC"} xref: PMID:24367489 {source="Europe PMC"} xref: PMID:8434538 {source="Europe PMC"} xref: Reaxys:42832 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C11H15N5O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C11H15N5O4/c1-15-3-14-10-6(9(15)12)13-4-16(10)11-8(19)7(18)5(2-17)20-11/h3-5,7-8,11-12,17-19H,2H2,1H3/t5-,7-,8-,11-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GFYLSDSUCHVORB-IOSLPCCCSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "281.26790" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "281.11240" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cn1cnc2n(cnc2c1=N)[C@@H]1O[C@H](CO)[C@@H](O)[C@H]1O" xsd:string [Term] id: CHEBI:16027 name: adenosine 5'-monophosphate namespace: chebi_ontology alt_id: CHEBI:12056 alt_id: CHEBI:13234 alt_id: CHEBI:13235 alt_id: CHEBI:13736 alt_id: CHEBI:13740 alt_id: CHEBI:22242 alt_id: CHEBI:22245 alt_id: CHEBI:2356 alt_id: CHEBI:40510 alt_id: CHEBI:40726 alt_id: CHEBI:40786 alt_id: CHEBI:40826 alt_id: CHEBI:47222 def: "A purine ribonucleoside 5'-monophosphate having adenine as the nucleobase." [] subset: 3_STAR synonym: "5'-Adenosine monophosphate" RELATED [KEGG_COMPOUND] synonym: "5'-Adenylic acid" RELATED [KEGG_COMPOUND] synonym: "5'-adenylic acid" EXACT IUPAC_NAME [IUPAC] synonym: "5'-AMP" RELATED [KEGG_COMPOUND] synonym: "5'-O-phosphonoadenosine" RELATED [CBN] synonym: "adenosine 5'-(dihydrogen phosphate)" RELATED [CBN] synonym: "Adenosine 5'-monophosphate" EXACT [KEGG_COMPOUND] synonym: "Adenosine 5'-phosphate" RELATED [KEGG_COMPOUND] synonym: "ADENOSINE MONOPHOSPHATE" RELATED [PDBeChem] synonym: "adenosine phosphate" RELATED [ChemIDplus] synonym: "adenosine phosphate" RELATED INN [WHO_MedNet] synonym: "Adenosine-5'-monophosphoric acid" RELATED [HMDB] synonym: "adenosine-5'P" RELATED [CBN] synonym: "adenosini phosphas" RELATED INN [WHO_MedNet] synonym: "Adenylate" RELATED [KEGG_COMPOUND] synonym: "Adenylic acid" RELATED [KEGG_COMPOUND] synonym: "Ado5'P" RELATED [CBN] synonym: "AMP" RELATED [KEGG_COMPOUND] synonym: "fosfato de adenosina" RELATED INN [WHO_MedNet] synonym: "pA" RELATED [ChEBI] synonym: "PAdo" RELATED [CBN] synonym: "phosphate d'adenosine" RELATED INN [WHO_MedNet] xref: Beilstein:54612 {source="Beilstein"} xref: CAS:61-19-8 {source="KEGG COMPOUND"} xref: CAS:61-19-8 {source="ChemIDplus"} xref: COMe:MOL000174 xref: Drug_Central:92 {source="DrugCentral"} xref: DrugBank:DB00131 xref: Gmelin:38561 {source="Gmelin"} xref: HMDB:HMDB0000045 xref: KEGG:C00020 xref: KEGG:D02769 xref: KNApSAcK:C00019347 xref: LINCS:LSM-5914 xref: MetaCyc:AMP xref: PDBeChem:AMP xref: PMID:11307758 {source="Europe PMC"} xref: PMID:12020809 {source="Europe PMC"} xref: PMID:12181610 {source="Europe PMC"} xref: PMID:15148540 {source="Europe PMC"} xref: PMID:15946677 {source="Europe PMC"} xref: PMID:16091942 {source="Europe PMC"} xref: PMID:16250233 {source="Europe PMC"} xref: PMID:16295522 {source="Europe PMC"} xref: PMID:17439666 {source="Europe PMC"} xref: PMID:22215671 {source="Europe PMC"} xref: PMID:22624049 {source="Europe PMC"} xref: PMID:2559771 {source="Europe PMC"} xref: Reaxys:54612 {source="Reaxys"} xref: Wikipedia:Adenylic_acid is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:26020 ! phosphate property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H14N5O7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H14N5O7P/c11-8-5-9(13-2-12-8)15(3-14-5)10-7(17)6(16)4(22-10)1-21-23(18,19)20/h2-4,6-7,10,16-17H,1H2,(H2,11,12,13)(H2,18,19,20)/t4-,6-,7-,10-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UDMBCSSLTHHNCD-KQYNXXCUSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "347.22120" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "347.06308" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Nc1ncnc2n(cnc12)[C@@H]1O[C@H](COP(O)(O)=O)[C@@H](O)[C@H]1O" xsd:string [Term] id: CHEBI:16038 name: phosphatidylethanolamine namespace: chebi_ontology alt_id: CHEBI:12701 alt_id: CHEBI:14803 alt_id: CHEBI:26030 alt_id: CHEBI:26031 alt_id: CHEBI:7661 alt_id: CHEBI:8129 def: "A class of glycerophospholipids in which a phosphatidyl group is esterified to the hydroxy group of ethanolamine." [] subset: 3_STAR synonym: "(3-Phosphatidyl)-ethanolamine" RELATED [KEGG_COMPOUND] synonym: "(3-Phosphatidyl)ethanolamine" RELATED [KEGG_COMPOUND] synonym: "1,2-diacyl-sn-glycero-3-phosphoethanolamine" RELATED [LIPID_MAPS] synonym: "1-Acyl-2-acyl-sn-glycero-3-phosphoethanolamine" RELATED [KEGG_COMPOUND] synonym: "Cephalin" RELATED [KEGG_COMPOUND] synonym: "O-(1-beta-Acyl-2-acyl-sn-glycero-3-phospho)ethanolamine" RELATED [KEGG_COMPOUND] synonym: "PE" RELATED [ChEBI] synonym: "phosphatidyl(amino)ethanols" EXACT IUPAC_NAME [IUPAC] synonym: "Phosphatidylethanolamine" EXACT [KEGG_COMPOUND] synonym: "phosphatidylethanolamines" EXACT IUPAC_NAME [IUPAC] synonym: "phosphatidylethanolamines" RELATED [ChEBI] synonym: "PtdEtn" RELATED [ChEBI] xref: CiteXplore:10540156 xref: CiteXplore:3196084 xref: CiteXplore:7980848 xref: DrugBank:DB04327 xref: HMDB:HMDB0060501 xref: KEGG COMPOUND:C00350 xref: KEGG:C00350 xref: LIPID_MAPS_instance:LMGP02010000 {source="LIPID MAPS"} xref: MeSH:C483858 xref: NCIt:C68416 xref: PDBeChem:PTY xref: PMID:10540156 {source="Europe PMC"} xref: PMID:11042504 {source="Europe PMC"} xref: PMID:11159918 {source="Europe PMC"} xref: PMID:11829744 {source="Europe PMC"} xref: PMID:12139474 {source="Europe PMC"} xref: PMID:15653902 {source="Europe PMC"} xref: PMID:16037249 {source="Europe PMC"} xref: PMID:16303767 {source="Europe PMC"} xref: PMID:16620109 {source="Europe PMC"} xref: PMID:18034796 {source="Europe PMC"} xref: PMID:18259190 {source="Europe PMC"} xref: PMID:18398168 {source="Europe PMC"} xref: PMID:18462396 {source="Europe PMC"} xref: PMID:18570887 {source="Europe PMC"} xref: PMID:18957134 {source="Europe PMC"} xref: PMID:19393163 {source="Europe PMC"} xref: PMID:23354482 {source="Europe PMC"} xref: PMID:23369752 {source="Europe PMC"} xref: PMID:23543734 {source="Europe PMC"} xref: PMID:3196084 {source="Europe PMC"} xref: PMID:7980848 {source="Europe PMC"} xref: Wikipedia:Phosphatidylethanolamine is_a: CHEBI:36314 ! glycerophosphoethanolamine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H12NO8PR2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "269.146" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "269.03005" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O(P(=O)(OCCN)O)CC(OC(*)=O)COC(*)=O" xsd:string [Term] id: CHEBI:16113 name: cholesterol namespace: chebi_ontology alt_id: CHEBI:13982 alt_id: CHEBI:23204 alt_id: CHEBI:3659 alt_id: CHEBI:41564 def: "A cholestanoid consisting of cholestane having a double bond at the 5,6-position as well as a 3beta-hydroxy group." [] subset: 3_STAR synonym: "(3beta,14beta,17alpha)-cholest-5-en-3-ol" RELATED [IUPAC] synonym: "Cholest-5-en-3beta-ol" RELATED [KEGG_COMPOUND] synonym: "cholest-5-en-3beta-ol" EXACT IUPAC_NAME [IUPAC] synonym: "Cholesterin" RELATED [NIST_Chemistry_WebBook] synonym: "CHOLESTEROL" EXACT [PDBeChem] synonym: "Cholesterol" EXACT [KEGG_COMPOUND] synonym: "cholesterol" EXACT [UniProt] xref: Beilstein:2060565 {source="Beilstein"} xref: CAS:57-88-5 {source="KEGG COMPOUND"} xref: CAS:57-88-5 {source="NIST Chemistry WebBook"} xref: CAS:57-88-5 {source="ChemIDplus"} xref: DrugBank:DB04540 xref: Gmelin:550297 {source="Gmelin"} xref: HMDB:HMDB0000067 xref: KEGG:C00187 xref: KEGG:D00040 xref: KNApSAcK:C00003648 xref: LIPID_MAPS_instance:LMST01010001 {source="LIPID MAPS"} xref: MeSH:D002784 xref: MetaCyc:CHOLESTEROL xref: NCIt:C369 xref: PDBeChem:CLR xref: PMID:10901445 {source="Europe PMC"} xref: PMID:11412894 {source="Europe PMC"} xref: PMID:16341241 {source="Europe PMC"} xref: PMID:24287311 {source="Europe PMC"} xref: PMID:25308664 {source="Europe PMC"} xref: PMID:25451949 {source="Europe PMC"} xref: PMID:25522988 {source="Europe PMC"} xref: PMID:25658343 {source="Europe PMC"} xref: PMID:25977713 {source="Europe PMC"} xref: PMID:4696527 {source="Europe PMC"} xref: PMID:8838010 {source="Europe PMC"} xref: Reaxys:2060565 {source="Reaxys"} xref: SNOMEDCT:84698008 xref: Wikipedia:Cholesterol is_a: CHEBI:15889 ! sterol is_a: EFO:0003836 ! lipoprotein property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C27H46O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C27H46O/c1-18(2)7-6-8-19(3)23-11-12-24-22-10-9-20-17-21(28)13-15-26(20,4)25(22)14-16-27(23,24)5/h9,18-19,21-25,28H,6-8,10-17H2,1-5H3/t19-,21+,22+,23-,24+,25+,26+,27-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HVYWMOMLDIMFJA-DPAQBDIFSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "386.655" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "386.35487" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C1[C@@]2([C@]3(CC[C@]4([C@]([C@@]3(CC=C2C[C@H](C1)O)[H])(CC[C@@]4([C@H](C)CCCC(C)C)[H])[H])C)[H])C" xsd:string [Term] id: CHEBI:16150 name: benzoate namespace: chebi_ontology alt_id: CHEBI:13879 alt_id: CHEBI:22717 def: "The simplest member of the class of benzoates that is the conjugate base of benzoic acid, comprising a benzoic acid core with a proton missing to give a charge of -1." [] subset: 3_STAR synonym: "Benzenecarboxylate" RELATED [HMDB] synonym: "Benzeneformate" RELATED [HMDB] synonym: "Benzenemethanoate" RELATED [HMDB] synonym: "benzoate" EXACT IUPAC_NAME [IUPAC] synonym: "benzoate" EXACT [UniProt] synonym: "benzoate anion" RELATED [NIST_Chemistry_WebBook] synonym: "benzoic acid, ion(1-)" RELATED [ChemIDplus] synonym: "Phenylcarboxylate" RELATED [HMDB] synonym: "Phenylformate" RELATED [HMDB] xref: Beilstein:1862486 {source="Beilstein"} xref: CAS:766-76-7 {source="NIST Chemistry WebBook"} xref: CAS:766-76-7 {source="ChemIDplus"} xref: Gmelin:2945 {source="Gmelin"} xref: HMDB:HMDB0001870 xref: KEGG:C00180 xref: MetaCyc:BENZOATE xref: Reaxys:1862486 {source="Reaxys"} xref: UM-BBD_compID:c0121 {source="UM-BBD"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H5O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H6O2/c8-7(9)6-4-2-1-3-5-6/h1-5H,(H,8,9)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WPYMKLBDIGXBTP-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "121.11340" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "121.02950" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-]C(=O)c1ccccc1" xsd:string [Term] id: CHEBI:16189 name: sulfate namespace: chebi_ontology alt_id: CHEBI:15135 alt_id: CHEBI:45687 alt_id: CHEBI:9335 def: "A sulfur oxoanion obtained by deprotonation of both OH groups of sulfuric acid." [] subset: 3_STAR synonym: "[SO4](2-)" RELATED [IUPAC] synonym: "SO4(2-)" RELATED [IUPAC] synonym: "Sulfate" EXACT [KEGG_COMPOUND] synonym: "sulfate" EXACT [UniProt] synonym: "sulfate" EXACT IUPAC_NAME [IUPAC] synonym: "Sulfate anion(2-)" RELATED [HMDB] synonym: "Sulfate dianion" RELATED [HMDB] synonym: "SULFATE ION" RELATED [PDBeChem] synonym: "Sulfate(2-)" RELATED [HMDB] synonym: "Sulfuric acid ion(2-)" RELATED [HMDB] synonym: "sulphate" RELATED [ChEBI] synonym: "sulphate ion" RELATED [ChEBI] synonym: "tetraoxidosulfate(2-)" EXACT IUPAC_NAME [IUPAC] synonym: "tetraoxosulfate(2-)" EXACT IUPAC_NAME [IUPAC] synonym: "tetraoxosulfate(VI)" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:3648446 {source="Beilstein"} xref: CAS:14808-79-8 {source="ChemIDplus"} xref: CAS:14808-79-8 {source="NIST Chemistry WebBook"} xref: Gmelin:2120 {source="Gmelin"} xref: HMDB:HMDB0001448 xref: KEGG:C00059 xref: KEGG:D05963 xref: MetaCyc:SULFATE xref: PDBeChem:SO4 xref: PMID:11200094 {source="Europe PMC"} xref: PMID:11452993 {source="Europe PMC"} xref: PMID:11581495 {source="Europe PMC"} xref: PMID:11798107 {source="Europe PMC"} xref: PMID:12166931 {source="Europe PMC"} xref: PMID:12668033 {source="Europe PMC"} xref: PMID:14597181 {source="Europe PMC"} xref: PMID:15093386 {source="Europe PMC"} xref: PMID:15984785 {source="Europe PMC"} xref: PMID:16186560 {source="Europe PMC"} xref: PMID:16345535 {source="Europe PMC"} xref: PMID:16347366 {source="Europe PMC"} xref: PMID:16348007 {source="Europe PMC"} xref: PMID:16483812 {source="Europe PMC"} xref: PMID:16534979 {source="Europe PMC"} xref: PMID:16656509 {source="Europe PMC"} xref: PMID:16742508 {source="Europe PMC"} xref: PMID:16742518 {source="Europe PMC"} xref: PMID:17120760 {source="Europe PMC"} xref: PMID:17420092 {source="Europe PMC"} xref: PMID:17439666 {source="Europe PMC"} xref: PMID:17709180 {source="Europe PMC"} xref: PMID:18398178 {source="Europe PMC"} xref: PMID:18815700 {source="Europe PMC"} xref: PMID:18846414 {source="Europe PMC"} xref: PMID:19047345 {source="Europe PMC"} xref: PMID:19244483 {source="Europe PMC"} xref: PMID:19544990 {source="Europe PMC"} xref: PMID:19628332 {source="Europe PMC"} xref: PMID:19812358 {source="Europe PMC"} xref: PMID:30398859 {source="Europe PMC"} xref: Reaxys:3648446 {source="Reaxys"} xref: Wikipedia:Sulfate is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "O4S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/H2O4S/c1-5(2,3)4/h(H2,1,2,3,4)/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QAOWNCQODCNURD-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "96.06360" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "95.95283" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-]S([O-])(=O)=O" xsd:string [Term] id: CHEBI:16196 name: oleic acid namespace: chebi_ontology alt_id: CHEBI:104361 alt_id: CHEBI:25664 alt_id: CHEBI:44741 alt_id: CHEBI:7741 def: "An octadec-9-enoic acid in which the double bond at C-9 has Z (cis) stereochemistry." [] subset: 3_STAR synonym: "(9Z)-octadec-9-enoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "(9Z)-Octadecenoic acid" RELATED [KEGG_COMPOUND] synonym: "(Z)-Octadec-9-enoic acid" RELATED [KEGG_COMPOUND] synonym: "18:1 n-9" RELATED [ChEBI] synonym: "18:1Delta9cis" RELATED [ChEBI] synonym: "C18:1 n-9" RELATED [ChEBI] synonym: "cis-9-octadecenoic acid" RELATED [NIST_Chemistry_WebBook] synonym: "cis-Delta(9)-octadecenoic acid" RELATED [ChemIDplus] synonym: "cis-oleic acid" RELATED [ChEBI] synonym: "FA 18:1" RELATED [ChEBI] synonym: "Octadec-9-enoic acid" RELATED [ChEMBL] synonym: "Oelsaeure" RELATED [ChEBI] synonym: "Oleate" RELATED [KEGG_COMPOUND] synonym: "OLEIC ACID" EXACT [PDBeChem] synonym: "Oleic acid" EXACT [KEGG_COMPOUND] xref: Beilstein:1726542 {source="Beilstein"} xref: CAS:112-80-1 {source="KEGG COMPOUND"} xref: CAS:112-80-1 {source="NIST Chemistry WebBook"} xref: CAS:112-80-1 {source="ChemIDplus"} xref: Drug_Central:3400 {source="DrugCentral"} xref: DrugBank:DB04224 xref: ECMDB:ECMDB21348 xref: Gmelin:109551 {source="Gmelin"} xref: Gmelin:57556 {source="Gmelin"} xref: HMDB:HMDB0000207 xref: KEGG:C00712 xref: KEGG:D02315 xref: KNApSAcK:C00001232 xref: LIPID_MAPS_instance:LMFA01030002 {source="LIPID MAPS"} xref: MeSH:D019301 xref: NCIt:C68405 xref: PDBeChem:OLA xref: PMID:11304127 {source="Europe PMC"} xref: PMID:15325315 {source="Europe PMC"} xref: PMID:15723125 {source="Europe PMC"} xref: PMID:18772370 {source="Europe PMC"} xref: PMID:19761868 {source="Europe PMC"} xref: PMID:23844805 {source="Europe PMC"} xref: PMID:24819471 {source="Europe PMC"} xref: PMID:25584012 {source="Europe PMC"} xref: PMID:25794012 {source="Europe PMC"} xref: PMID:5332408 {source="Europe PMC"} xref: PMID:6205897 {source="Europe PMC"} xref: Reaxys:1726542 {source="Reaxys"} xref: SNOMEDCT:427281002 xref: Wikipedia:Oleic_acid is_a: CHEBI:35366 ! fatty acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H34O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H34O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-18(19)20/h9-10H,2-8,11-17H2,1H3,(H,19,20)/b10-9-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ZQPPMHVWECSIRJ-KTKRTIGZSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "282.46140" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "282.25588" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCC\\C=C/CCCCCCCC(O)=O" xsd:string [Term] id: CHEBI:16199 name: urea namespace: chebi_ontology alt_id: CHEBI:15292 alt_id: CHEBI:27218 alt_id: CHEBI:46379 alt_id: CHEBI:9888 def: "A carbonyl group with two C-bound amine groups. The commercially available fertilizer has an analysis of 46-0-0 (N-P2O5-K2O)." [] subset: 3_STAR synonym: "1728" RELATED [PPDB] synonym: "Carbamide" RELATED [KEGG_COMPOUND] synonym: "carbamide" RELATED INN [ChEBI] synonym: "carbonyldiamide" RELATED [NIST_Chemistry_WebBook] synonym: "E927b" RELATED [ChEBI] synonym: "H2NC(O)NH2" RELATED [ChEBI] synonym: "Harnstoff" RELATED [NIST_Chemistry_WebBook] synonym: "Karbamid" RELATED [ChEBI] synonym: "ur" RELATED [IUPAC] synonym: "UREA" EXACT [PDBeChem] synonym: "Urea" EXACT [KEGG_COMPOUND] synonym: "urea" EXACT [UniProt] synonym: "urea" EXACT IUPAC_NAME [IUPAC] synonym: "uree" RELATED [ChEBI] xref: Beilstein:635724 {source="Beilstein"} xref: CAS:57-13-6 {source="ChemIDplus"} xref: CAS:57-13-6 {source="NIST Chemistry WebBook"} xref: CAS:57-13-6 {source="KEGG COMPOUND"} xref: Drug_Central:4264 {source="DrugCentral"} xref: DrugBank:DB03904 xref: ECMDB:ECMDB04172 xref: Gmelin:1378 {source="Gmelin"} xref: HMDB:HMDB0000294 xref: KEGG:C00086 xref: KEGG:D00023 xref: KNApSAcK:C00007314 xref: MetaCyc:UREA xref: PDBeChem:URE xref: PMID:18037357 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: PPDB:1728 xref: Reaxys:635724 {source="Reaxys"} xref: UM-BBD_compID:c0165 {source="UM-BBD"} xref: Wikipedia:Urea xref: YMDB:YMDB00003 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "CH4N2O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/CH4N2O/c2-1(3)4/h(H4,2,3,4)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XSQUKJJJFZCRTK-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "60.05534" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "60.03236" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NC(N)=O" xsd:string [Term] id: CHEBI:16235 name: guanine namespace: chebi_ontology alt_id: CHEBI:14371 alt_id: CHEBI:14372 alt_id: CHEBI:24443 alt_id: CHEBI:42948 alt_id: CHEBI:5563 def: "A 2-aminopurine carrying a 6-oxo substituent." [] subset: 3_STAR synonym: "2-amino-1,9-dihydro-6H-purin-6-one" EXACT IUPAC_NAME [IUPAC] synonym: "2-Amino-6-hydroxypurine" RELATED [KEGG_COMPOUND] synonym: "2-amino-6-oxopurine" RELATED [ChEBI] synonym: "G" RELATED [ChEBI] synonym: "Gua" RELATED [CBN] synonym: "GUANINE" EXACT [PDBeChem] synonym: "Guanine" EXACT [KEGG_COMPOUND] synonym: "guanine" EXACT [UniProt] xref: Beilstein:147911 {source="Beilstein"} xref: CAS:73-40-5 {source="NIST Chemistry WebBook"} xref: CAS:73-40-5 {source="ChemIDplus"} xref: CAS:73-40-5 {source="KEGG COMPOUND"} xref: DrugBank:DB02377 xref: Gmelin:431879 {source="Gmelin"} xref: HMDB:HMDB0000132 xref: KEGG:C00242 xref: KNApSAcK:C00001501 xref: MetaCyc:GUANINE xref: PDBeChem:GUN xref: PMID:22770225 {source="Europe PMC"} xref: PMID:8070089 {source="Europe PMC"} xref: Reaxys:147911 {source="Reaxys"} xref: Wikipedia:Guanine is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H5N5O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H5N5O/c6-5-9-3-2(4(11)10-5)7-1-8-3/h1H,(H4,6,7,8,9,10,11)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UYTPUPDQBNUYGX-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "151.126" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "151.04941" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C12=C(N=C(NC1=O)N)NC=N2" xsd:string [Term] id: CHEBI:16236 name: ethanol namespace: chebi_ontology alt_id: CHEBI:14222 alt_id: CHEBI:23978 alt_id: CHEBI:30878 alt_id: CHEBI:30880 alt_id: CHEBI:42377 alt_id: CHEBI:44594 alt_id: CHEBI:4879 def: "A primary alcohol that is ethane in which one of the hydrogens is substituted by a hydroxy group." [] subset: 3_STAR synonym: "1-hydroxyethane" RELATED [ChemIDplus] synonym: "[CH2Me(OH)]" RELATED [MolBase] synonym: "[OEtH]" RELATED [MolBase] synonym: "Aethanol" RELATED [ChemIDplus] synonym: "Aethylalkohol" RELATED [ChemIDplus] synonym: "alcohol" RELATED [NIST_Chemistry_WebBook] synonym: "alcohol etilico" RELATED [ChEBI] synonym: "alcool ethylique" RELATED [ChemIDplus] synonym: "Alkohol" RELATED [ChemIDplus] synonym: "C2H5OH" RELATED [ChEBI] synonym: "Dehydrated ethanol" RELATED BRAND_NAME [KEGG_DRUG] synonym: "etanol" RELATED [ChEBI] synonym: "ETHANOL" EXACT [PDBeChem] synonym: "Ethanol" EXACT [KEGG_COMPOUND] synonym: "ethanol" EXACT IUPAC_NAME [IUPAC] synonym: "ethanol" EXACT [UniProt] synonym: "ethanol" EXACT [ChEBI] synonym: "Ethyl alcohol" RELATED [KEGG_COMPOUND] synonym: "EtOH" RELATED [ChemIDplus] synonym: "hydroxyethane" RELATED [ChemIDplus] synonym: "Methylcarbinol" RELATED [KEGG_COMPOUND] synonym: "spiritus vini" RELATED [ChEBI] xref: Beilstein:1718733 {source="Beilstein"} xref: CAS:64-17-5 {source="NIST Chemistry WebBook"} xref: CAS:64-17-5 {source="KEGG COMPOUND"} xref: CAS:64-17-5 {source="ChemIDplus"} xref: Drug_Central:1076 {source="DrugCentral"} xref: DrugBank:DB00898 xref: Gmelin:787 {source="Gmelin"} xref: HMDB:HMDB0000108 xref: KEGG:C00469 xref: KEGG:D00068 xref: KEGG:D06542 xref: KNApSAcK:C00019560 xref: MeSH:D000431 xref: MetaCyc:ETOH xref: MolBase:858 xref: MolBase:859 xref: NCIt:C2190 xref: NCIt:C79085 xref: NIFSTD:nlx_chem_20090205 xref: PDBeChem:EOH xref: PMID:11046114 {source="Europe PMC"} xref: PMID:11090978 {source="Europe PMC"} xref: PMID:11198720 {source="Europe PMC"} xref: PMID:11200745 {source="Europe PMC"} xref: PMID:11262320 {source="Europe PMC"} xref: PMID:11303910 {source="Europe PMC"} xref: PMID:11333032 {source="Europe PMC"} xref: PMID:11505026 {source="Europe PMC"} xref: PMID:11590970 {source="Europe PMC"} xref: PMID:11728426 {source="Europe PMC"} xref: PMID:11750186 {source="Europe PMC"} xref: PMID:11754521 {source="Europe PMC"} xref: PMID:11810019 {source="Europe PMC"} xref: PMID:11826039 {source="Europe PMC"} xref: PMID:11981228 {source="Europe PMC"} xref: PMID:12824058 {source="Europe PMC"} xref: PMID:12829422 {source="Europe PMC"} xref: PMID:12888778 {source="Europe PMC"} xref: PMID:12946583 {source="Europe PMC"} xref: PMID:14674846 {source="Europe PMC"} xref: PMID:15019421 {source="Europe PMC"} xref: PMID:15239123 {source="Europe PMC"} xref: PMID:15285839 {source="Europe PMC"} xref: PMID:15464411 {source="Europe PMC"} xref: PMID:15465973 {source="Europe PMC"} xref: PMID:15749123 {source="Europe PMC"} xref: PMID:15900217 {source="Europe PMC"} xref: PMID:15902919 {source="Europe PMC"} xref: PMID:16084479 {source="Europe PMC"} xref: PMID:16133132 {source="Europe PMC"} xref: PMID:16352430 {source="Europe PMC"} xref: PMID:16390872 {source="Europe PMC"} xref: PMID:16737463 {source="Europe PMC"} xref: PMID:16891664 {source="Europe PMC"} xref: PMID:16934862 {source="Europe PMC"} xref: PMID:17043811 {source="Europe PMC"} xref: PMID:17190852 {source="Europe PMC"} xref: PMID:17663926 {source="Europe PMC"} xref: PMID:17687877 {source="Europe PMC"} xref: PMID:18095657 {source="Europe PMC"} xref: PMID:18249266 {source="Europe PMC"} xref: PMID:18320157 {source="Europe PMC"} xref: PMID:18347649 {source="Europe PMC"} xref: PMID:18408978 {source="Europe PMC"} xref: PMID:18411066 {source="Europe PMC"} xref: PMID:18456322 {source="Europe PMC"} xref: PMID:18513832 {source="Europe PMC"} xref: PMID:18922656 {source="Europe PMC"} xref: PMID:18925476 {source="Europe PMC"} xref: PMID:19280886 {source="Europe PMC"} xref: PMID:19359288 {source="Europe PMC"} xref: PMID:19384566 {source="Europe PMC"} xref: PMID:19458312 {source="Europe PMC"} xref: PMID:19851413 {source="Europe PMC"} xref: PMID:19901811 {source="Europe PMC"} xref: PMID:21600756 {source="Europe PMC"} xref: PMID:21762181 {source="Europe PMC"} xref: PMID:21881875 {source="Europe PMC"} xref: PMID:21967628 {source="Europe PMC"} xref: PMID:22019193 {source="Europe PMC"} xref: PMID:22222864 {source="Europe PMC"} xref: PMID:22261437 {source="Europe PMC"} xref: PMID:22286266 {source="Europe PMC"} xref: PMID:22306018 {source="Europe PMC"} xref: PMID:22331491 {source="Europe PMC"} xref: PMID:22336593 {source="Europe PMC"} xref: PPDB:1373 xref: Reaxys:1718733 {source="Reaxys"} xref: SNOMEDCT:398624005 xref: SNOMEDCT:413966000 xref: SNOMEDCT:419442005 xref: SNOMEDCT:421417004 xref: SNOMEDCT:53041004 xref: UM-BBD_compID:c0038 {source="UM-BBD"} xref: Wikipedia:Ethanol is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C2H6O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C2H6O/c1-2-3/h3H,2H2,1H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LFQSCWFLJHTTHZ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "46.06844" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "46.04186" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCO" xsd:string [Term] id: CHEBI:16240 name: hydrogen peroxide namespace: chebi_ontology alt_id: CHEBI:13354 alt_id: CHEBI:13355 alt_id: CHEBI:24637 alt_id: CHEBI:44812 alt_id: CHEBI:5586 def: "An inorganic peroxide consisting of two hydroxy groups joined by a covalent oxygen-oxygen single bond." [] subset: 3_STAR synonym: "[OH(OH)]" RELATED [MolBase] synonym: "bis(hydridooxygen)(O--O)" EXACT IUPAC_NAME [IUPAC] synonym: "dihydrogen dioxide" RELATED [IUPAC] synonym: "dihydrogen peroxide" EXACT IUPAC_NAME [IUPAC] synonym: "dihydrogen(peroxide)" EXACT IUPAC_NAME [IUPAC] synonym: "dioxidane" EXACT IUPAC_NAME [IUPAC] synonym: "H2O2" RELATED [UniProt] synonym: "H2O2" RELATED [KEGG_COMPOUND] synonym: "HOOH" RELATED [IUPAC] synonym: "HYDROGEN PEROXIDE" EXACT [PDBeChem] synonym: "Hydrogen peroxide" EXACT [KEGG_COMPOUND] synonym: "hydrogen peroxide" EXACT IUPAC_NAME [IUPAC] synonym: "Oxydol" RELATED [KEGG_COMPOUND] synonym: "perhydrol" RELATED [MetaCyc] xref: Beilstein:3587191 {source="Beilstein"} xref: CAS:7722-84-1 {source="KEGG COMPOUND"} xref: CAS:7722-84-1 {source="NIST Chemistry WebBook"} xref: CAS:7722-84-1 {source="ChemIDplus"} xref: Drug_Central:3281 {source="DrugCentral"} xref: Gmelin:509 {source="Gmelin"} xref: HMDB:HMDB0003125 xref: KEGG:C00027 xref: KEGG:D00008 xref: MetaCyc:HYDROGEN-PEROXIDE xref: MolBase:932 xref: PDBeChem:PEO xref: PMID:10455187 {source="Europe PMC"} xref: PMID:10557015 {source="Europe PMC"} xref: PMID:10849784 {source="Europe PMC"} xref: PMID:11033421 {source="Europe PMC"} xref: PMID:11105916 {source="Europe PMC"} xref: PMID:11318558 {source="Europe PMC"} xref: PMID:11387393 {source="Europe PMC"} xref: PMID:11809417 {source="Europe PMC"} xref: PMID:11864786 {source="Europe PMC"} xref: PMID:11893576 {source="Europe PMC"} xref: PMID:12867293 {source="Europe PMC"} xref: PMID:12934880 {source="Europe PMC"} xref: PMID:14679422 {source="Europe PMC"} xref: PMID:15028418 {source="Europe PMC"} xref: PMID:15133946 {source="Europe PMC"} xref: PMID:15298493 {source="Europe PMC"} xref: PMID:16337875 {source="Europe PMC"} xref: PMID:16463018 {source="Europe PMC"} xref: PMID:16864869 {source="Europe PMC"} xref: PMID:17020896 {source="Europe PMC"} xref: PMID:17179007 {source="Europe PMC"} xref: PMID:17610934 {source="Europe PMC"} xref: PMID:17948137 {source="Europe PMC"} xref: PMID:18179203 {source="Europe PMC"} xref: PMID:18182702 {source="Europe PMC"} xref: PMID:18306736 {source="Europe PMC"} xref: PMID:18443210 {source="Europe PMC"} xref: PMID:18592736 {source="Europe PMC"} xref: PMID:19107210 {source="Europe PMC"} xref: PMID:19229032 {source="Europe PMC"} xref: PMID:19297450 {source="Europe PMC"} xref: PMID:19509065 {source="Europe PMC"} xref: PMID:26352695 {source="Europe PMC"} xref: PMID:26365231 {source="Europe PMC"} xref: PMID:7548021 {source="Europe PMC"} xref: PMID:7581816 {source="Europe PMC"} xref: PMID:8048546 {source="Europe PMC"} xref: PMID:8375042 {source="Europe PMC"} xref: PMID:8451754 {source="Europe PMC"} xref: PMID:9051670 {source="Europe PMC"} xref: PMID:9100841 {source="Europe PMC"} xref: PMID:9168257 {source="Europe PMC"} xref: PMID:9202721 {source="Europe PMC"} xref: PMID:9558114 {source="Europe PMC"} xref: PPDB:387 xref: Reaxys:3587191 {source="Reaxys"} xref: Wikipedia:Hydrogen_peroxide is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "H2O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/H2O2/c1-2/h1-2H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "MHAJPDPJQMAIIY-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "34.01468" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "34.00548" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H]OO[H]" xsd:string [Term] id: CHEBI:16243 name: quercetin namespace: chebi_ontology alt_id: CHEBI:11704 alt_id: CHEBI:14991 alt_id: CHEBI:26472 alt_id: CHEBI:45280 alt_id: CHEBI:8696 def: "A pentahydroxyflavone having the five hydroxy groups placed at the 3-, 3'-, 4'-, 5- and 7-positions. It is one of the most abundant flavonoids in edible vegetables, fruit and wine." [] subset: 3_STAR synonym: "2-(3,4-dihydroxyphenyl)-3,5,7-trihydroxy-4H-1-benzopyran-4-one" RELATED [ChEBI] synonym: "2-(3,4-dihydroxyphenyl)-3,5,7-trihydroxy-4H-chromen-4-one" EXACT IUPAC_NAME [IUPAC] synonym: "3,3',4',5,7-pentahydroxyflavone" RELATED [ChEBI] synonym: "3,5,7,3',4'-PENTAHYDROXYFLAVONE" RELATED [PDBeChem] synonym: "3,5,7,3',4'-Pentahydroxyflavone" RELATED [KEGG_COMPOUND] synonym: "Quercetin" EXACT [KEGG_COMPOUND] synonym: "sophoretin" RELATED [ChEBI] synonym: "xanthaurine" RELATED [ChEBI] xref: Beilstein:317313 {source="Beilstein"} xref: CAS:117-39-5 {source="ChemIDplus"} xref: CAS:117-39-5 {source="NIST Chemistry WebBook"} xref: Drug_Central:3514 {source="DrugCentral"} xref: DrugBank:DB04216 xref: FooDB:FDB011904 xref: Gmelin:579210 {source="Gmelin"} xref: HMDB:HMDB0005794 xref: KEGG:C00389 xref: KNApSAcK:C00004631 xref: LINCS:LSM-4199 xref: LIPID_MAPS_instance:LMPK12110004 {source="LIPID MAPS"} xref: MetaCyc:CPD-520 xref: Patent:KR20120121684 xref: Patent:US2013012577 xref: PDBeChem:QUE xref: PMID:16226777 {source="Europe PMC"} xref: PMID:17015250 {source="Europe PMC"} xref: PMID:17135030 {source="Europe PMC"} xref: PMID:17426744 {source="Europe PMC"} xref: PMID:18096136 {source="Europe PMC"} xref: PMID:18484521 {source="Europe PMC"} xref: PMID:18549926 {source="Europe PMC"} xref: PMID:18564899 {source="Europe PMC"} xref: PMID:18579649 {source="Europe PMC"} xref: PMID:18785622 {source="Europe PMC"} xref: PMID:19043800 {source="Europe PMC"} xref: PMID:19461927 {source="Europe PMC"} xref: PMID:22920589 {source="Europe PMC"} xref: PMID:23342112 {source="Europe PMC"} xref: PMID:23359794 {source="Europe PMC"} xref: PMID:27565033 {source="Europe PMC"} xref: PMID:27589790 {source="Europe PMC"} xref: PMID:27591927 {source="Europe PMC"} xref: PMID:27704720 {source="Europe PMC"} xref: Reaxys:317313 {source="Reaxys"} xref: Wikipedia:Quercetin is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C15H10O7" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C15H10O7/c16-7-4-10(19)12-11(5-7)22-15(14(21)13(12)20)6-1-2-8(17)9(18)3-6/h1-5,16-19,21H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "REFJWTPEDVJJIY-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "302.238" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "302.04265" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC1=CC(O)=C2C(OC(=C(O)C2=O)C2=CC(O)=C(O)C=C2)=C1" xsd:string [Term] id: CHEBI:16247 name: phospholipid namespace: chebi_ontology alt_id: CHEBI:14816 alt_id: CHEBI:26063 alt_id: CHEBI:8150 def: "A lipid containing phosphoric acid as a mono- or di-ester. The term encompasses phosphatidic acids and phosphoglycerides." [] subset: 3_STAR synonym: "a phospholipid derivative" RELATED [UniProt] synonym: "Phospholipid" EXACT [KEGG_COMPOUND] synonym: "phospholipids" RELATED [ChEBI] xref: KEGG COMPOUND:C00865 xref: KEGG:C00865 xref: MeSH:D010743 xref: NCIt:C70561 xref: SNOMEDCT:78447009 is_a: CHEBI:18059 ! lipid is_a: CHEBI:26020 ! phosphate [Term] id: CHEBI:16261 name: chitosan namespace: chebi_ontology alt_id: CHEBI:13964 alt_id: CHEBI:3599 def: "An aminoglycan consisting of beta-(1->4)-linked D-glucosamine residues." [] subset: 3_STAR synonym: "(1->4)-2-amino-2-deoxy-beta-D-glucan" EXACT IUPAC_NAME [IUPAC] synonym: "[4)-beta-D-GlcpN(1->]n" RELATED [IUPAC] synonym: "beta-1,4-Poly-D-glucosamine" RELATED [KEGG_COMPOUND] synonym: "Chitosan" EXACT [KEGG_COMPOUND] synonym: "Deacetylchitin" RELATED [ChemIDplus] synonym: "poliglusam" RELATED INN [ChemIDplus] xref: CAS:9012-76-4 {source="ChemIDplus"} xref: DrugBank:DB14155 xref: FooDB:FDB015634 xref: HMDB:HMDB0003404 xref: KEGG:C00734 xref: KEGG:G10536 xref: MetaCyc:Chitosan xref: Pesticides:chitosan {source="Alan Wood's Pesticides"} xref: PMID:33208634 {source="Europe PMC"} xref: PMID:34885715 {source="Europe PMC"} xref: PMID:36076877 {source="Europe PMC"} xref: PMID:36191784 {source="Europe PMC"} xref: PMID:36315326 {source="Europe PMC"} xref: PMID:36362923 {source="Europe PMC"} xref: PMID:36431043 {source="Europe PMC"} xref: PMID:36437390 {source="Europe PMC"} xref: PMID:36449553 {source="Europe PMC"} xref: PMID:36501559 {source="Europe PMC"} xref: PMID:36547302 {source="Europe PMC"} xref: PMID:36547931 {source="Europe PMC"} xref: Wikipedia:Chitosan is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "H2O(C6H11NO4)n" xsd:string [Term] id: CHEBI:16330 name: 17beta-hydroxy-5alpha-androstan-3-one namespace: chebi_ontology alt_id: CHEBI:11341 alt_id: CHEBI:11342 alt_id: CHEBI:19175 alt_id: CHEBI:41876 alt_id: CHEBI:793 def: "A 17beta-hydroxy steroid that is testosterone in which the 4,5 double bond has been reduced to a single bond with alpha-configuration at position 5." [] subset: 3_STAR synonym: "17beta-Hydroxy-5alpha-androstan-3-one" EXACT [KEGG_COMPOUND] synonym: "17beta-hydroxy-5alpha-androstan-3-one" EXACT IUPAC_NAME [IUPAC] synonym: "17beta-hydroxy-5alpha-androstan-3-one" EXACT [ChEBI] synonym: "17beta-hydroxy-5alpha-androstan-3-one" EXACT [UniProt] synonym: "17beta-Hydroxyandrostan-3-one" RELATED [KEGG_COMPOUND] synonym: "17beta-hydroxyandrostan-3-one" RELATED [ChEBI] synonym: "4,5alpha-dihydrotestosterone" RELATED [ChEBI] synonym: "5alpha-DHT" RELATED [ChEBI] synonym: "5alpha-Dihydrotestosterone" RELATED [KEGG_COMPOUND] synonym: "5alpha-dihydrotestosterone" RELATED [ChEBI] synonym: "androstanolona" RELATED INN [ChemIDplus] synonym: "Androstanolone" RELATED [KEGG_COMPOUND] synonym: "androstanolone" RELATED INN [WHO_MedNet] synonym: "androstanolone" RELATED INN [ChemIDplus] synonym: "androstanolonum" RELATED INN [ChemIDplus] synonym: "DHT" RELATED [PDBeChem] synonym: "Dihydrotestosteron" RELATED [ChEBI] synonym: "DIHYDROTESTOSTERONE" RELATED [PDBeChem] synonym: "dihydrotestosterone" RELATED [ChEBI] synonym: "Stanolone" RELATED [NIST_Chemistry_WebBook] xref: CAS:521-18-6 {source="ChemIDplus"} xref: CAS:521-18-6 {source="NIST Chemistry WebBook"} xref: CAS:521-18-6 {source="KEGG COMPOUND"} xref: Drug_Central:3927 {source="DrugCentral"} xref: DrugBank:DB02901 xref: HMDB:HMDB0002961 xref: KEGG:C03917 xref: KEGG:D07456 xref: LIPID_MAPS_instance:LMST02020042 {source="LIPID MAPS"} xref: MeSH:D013196 xref: MetaCyc:17-BETA-HYDROXY-5ALPHA-ANDROSTAN-3-O xref: NCIt:C29619 xref: NCIt:C72098 xref: PDBeChem:DHT xref: PMID:15251265 {source="Europe PMC"} xref: PMID:15811352 {source="Europe PMC"} xref: PMID:18076420 {source="Europe PMC"} xref: SNOMEDCT:103042004 xref: Wikipedia:Dihydrotestosterone is_a: CHEBI:35341 ! steroid relationship: has_role EFO:0001824 ! hormone role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H30O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H30O2/c1-18-9-7-13(20)11-12(18)3-4-14-15-5-6-17(21)19(15,2)10-8-16(14)18/h12,14-17,21H,3-11H2,1-2H3/t12-,14-,15-,16-,17-,18-,19-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NVKAWKQGWWIWPM-ABEVXSGRSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "290.44030" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "290.22458" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12CC[C@@]3([H])[C@]4([H])CC[C@H](O)[C@@]4(C)CC[C@]3([H])[C@@]1(C)CCC(=O)C2" xsd:string [Term] id: CHEBI:16336 name: hyaluronic acid namespace: chebi_ontology alt_id: CHEBI:14412 alt_id: CHEBI:24622 alt_id: CHEBI:24623 alt_id: CHEBI:5772 def: "A mucopolysaccharide composed of N-acetylglucosamine and glucuronic acid subunits. It is found in the connective tissues of vertebrates. A principal constituent of the extracellular matrix (ECM), it mediates the growth and metastasis of tumour cells." [] subset: 3_STAR synonym: "[beta-D-glucopyranuronosyl-(1->3)-2-(acetylamino)-2-deoxy-beta-D-glucopyranosyl-(1->4)]n" RELATED [ChEBI] synonym: "[beta-N-Acetyl-D-glucosaminyl(1,4)beta-D-glucuronosyl(1,3)]n" RELATED [KEGG_COMPOUND] synonym: "acide hyaluronique" RELATED [ChEBI] synonym: "acido hialuronico" RELATED [ChEBI] synonym: "hyaluronan" RELATED [ChEBI] synonym: "Hyaluronic acid" EXACT [KEGG_COMPOUND] synonym: "Hyaluronsaeure" RELATED [ChEBI] xref: Beilstein:8538277 {source="Beilstein"} xref: CAS:9004-61-9 {source="KEGG COMPOUND"} xref: CAS:9004-61-9 {source="ChemIDplus"} xref: HMDB:HMDB0010366 xref: KEGG:C00518 xref: KEGG:D08043 xref: KEGG:G10505 xref: PMID:11122186 {source="Europe PMC"} xref: PMID:18056362 {source="Europe PMC"} xref: PMID:18290544 {source="Europe PMC"} xref: Reaxys:8187837 {source="Reaxys"} xref: Wikipedia:Hyaluronan is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "(C14H21NO12)n" xsd:string [Term] id: CHEBI:16345 name: 3-sulfino-L-alanine namespace: chebi_ontology alt_id: CHEBI:11888 alt_id: CHEBI:11889 alt_id: CHEBI:1664 alt_id: CHEBI:21271 alt_id: CHEBI:41618 alt_id: CHEBI:8973 def: "The organosulfinic acid arising from oxidation of the sulfhydryl group of L-cysteine." [] subset: 3_STAR synonym: "(2R)-2-amino-3-sulfinopropanoic acid" RELATED [IUPAC] synonym: "3-Sulfino-L-alanine" EXACT [KEGG_COMPOUND] synonym: "3-sulfino-L-alanine" EXACT IUPAC_NAME [IUPAC] synonym: "3-SULFINOALANINE" RELATED [PDBeChem] synonym: "3-Sulfinoalanine" RELATED [KEGG_COMPOUND] synonym: "3-Sulphino-L-alanine" RELATED [KEGG_COMPOUND] synonym: "L-Cysteinesulfinic acid" RELATED [KEGG_COMPOUND] xref: CAS:1115-65-7 {source="ChemIDplus"} xref: CAS:1115-65-7 {source="KEGG COMPOUND"} xref: DrugBank:DB02153 xref: HMDB:HMDB0000996 xref: KEGG:C00606 xref: PDBeChem:CSD xref: PMID:18559081 {source="Europe PMC"} xref: PMID:19885389 {source="Europe PMC"} xref: PMID:7978266 {source="Europe PMC"} xref: Reaxys:1724100 {source="Reaxys"} xref: Wikipedia:Cysteine_sulfinic_acid is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H7NO4S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H7NO4S/c4-2(3(5)6)1-9(7)8/h2H,1,4H2,(H,5,6)(H,7,8)/t2-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ADVPTQAUNPRNPO-REOHCLBHSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "153.15802" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "153.00958" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "N[C@@H](CS(O)=O)C(O)=O" xsd:string [Term] id: CHEBI:16348 name: 3-nitropropanoic acid namespace: chebi_ontology alt_id: CHEBI:10434 alt_id: CHEBI:11864 alt_id: CHEBI:1611 alt_id: CHEBI:20145 alt_id: CHEBI:22852 alt_id: CHEBI:39918 def: "A C-nitro compound that is propanoic acid in which one of the methyl hydrogens has been replaced by a nitro group." [] subset: 3_STAR synonym: "3-NITROPROPANOIC ACID" EXACT [PDBeChem] synonym: "3-nitropropanoic acid" EXACT [UniProt] synonym: "3-nitropropanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "3-nitropropionic acid" RELATED [ChemIDplus] synonym: "beta-Nitropropanoic acid" RELATED [KEGG_COMPOUND] synonym: "beta-Nitropropionic acid" RELATED [KEGG_COMPOUND] synonym: "Bovinocidin" RELATED [ChemIDplus] xref: Beilstein:1759889 {source="ChemIDplus"} xref: CAS:504-88-1 {source="ChemIDplus"} xref: CAS:504-88-1 {source="KEGG COMPOUND"} xref: Gmelin:533092 {source="Gmelin"} xref: KEGG:C05669 xref: KNApSAcK:C00018684 xref: LINCS:LSM-6632 xref: MeSH:C015392 xref: NCIt:C21521 xref: PDBeChem:3NP xref: PMID:11409756 {source="Europe PMC"} xref: PMID:11785916 {source="Europe PMC"} xref: PMID:14700739 {source="Europe PMC"} xref: PMID:16038559 {source="Europe PMC"} xref: PMID:16300642 {source="Europe PMC"} xref: PMID:16443208 {source="Europe PMC"} xref: PMID:16940769 {source="Europe PMC"} xref: PMID:17183449 {source="Europe PMC"} xref: PMID:17344940 {source="Europe PMC"} xref: PMID:17566644 {source="Europe PMC"} xref: PMID:19755148 {source="Europe PMC"} xref: PMID:19763544 {source="Europe PMC"} xref: PMID:19779956 {source="Europe PMC"} xref: PMID:25963711 {source="Europe PMC"} xref: PMID:26796265 {source="Europe PMC"} xref: PMID:26957301 {source="Europe PMC"} xref: PMID:27289244 {source="Europe PMC"} xref: PMID:27682807 {source="Europe PMC"} xref: PMID:27690136 {source="Europe PMC"} xref: PMID:27890093 {source="Europe PMC"} xref: PMID:28164735 {source="Europe PMC"} xref: PMID:28271107 {source="Europe PMC"} xref: PMID:8848189 {source="Europe PMC"} is_a: EFO:0004416 ! acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H5NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H5NO4/c5-3(6)1-2-4(7)8/h1-2H2,(H,5,6)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WBLZUCOIBUDNBV-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "119.076" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "119.02186" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(CC[N+]([O-])=O)=O" xsd:string [Term] id: CHEBI:16359 name: cholic acid namespace: chebi_ontology alt_id: CHEBI:1694 alt_id: CHEBI:20223 alt_id: CHEBI:23210 alt_id: CHEBI:41494 def: "A bile acid that is 5beta-cholan-24-oic acid bearing three alpha-hydroxy substituents at position 3, 7 and 12." [] subset: 3_STAR synonym: "(3alpha,5beta,7alpha,12alpha)-3,7,12-trihydroxycholan-24-oic acid" RELATED [NIST_Chemistry_WebBook] synonym: "3alpha,7alpha,12alpha-trihydroxy-5beta-cholan-24-oic acid" EXACT IUPAC_NAME [IUPAC] synonym: "3alpha,7alpha,12alpha-Trihydroxy-5beta-cholanate" RELATED [KEGG_COMPOUND] synonym: "3alpha,7alpha,12alpha-Trihydroxy-5beta-cholanic acid" RELATED [KEGG_COMPOUND] synonym: "3alpha,7alpha,12alpha-trihydroxy-5beta-cholanic acid" RELATED [NIST_Chemistry_WebBook] synonym: "CHOLIC ACID" EXACT [PDBeChem] synonym: "Cholic acid" EXACT [KEGG_COMPOUND] synonym: "Cholsaeure" RELATED [ChEBI] xref: Beilstein:2822009 {source="ChemIDplus"} xref: CAS:81-25-4 {source="ChemIDplus"} xref: CAS:81-25-4 {source="NIST Chemistry WebBook"} xref: CAS:81-25-4 {source="KEGG COMPOUND"} xref: Drug_Central:3096 {source="DrugCentral"} xref: DrugBank:DB02659 xref: HMDB:HMDB0000619 xref: KEGG:C00695 xref: LINCS:LSM-5541 xref: LIPID_MAPS_instance:LMST04010001 {source="LIPID MAPS"} xref: MeSH:D019826 xref: MetaCyc:CHOLATE xref: NCIt:C91035 xref: PDBeChem:CHD xref: PMID:22770225 {source="Europe PMC"} xref: Reaxys:2822009 {source="Reaxys"} xref: SNOMEDCT:17147002 xref: Wikipedia:Cholic_Acid is_a: CHEBI:35341 ! steroid is_a: EFO:0004416 ! acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C24H40O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C24H40O5/c1-13(4-7-21(28)29)16-5-6-17-22-18(12-20(27)24(16,17)3)23(2)9-8-15(25)10-14(23)11-19(22)26/h13-20,22,25-27H,4-12H2,1-3H3,(H,28,29)/t13-,14+,15-,16-,17+,18+,19-,20+,22+,23+,24-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BHQCQFFYRZLCQQ-OELDTZBJSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "408.57140" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "408.28757" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12C[C@H](O)CC[C@]1(C)[C@@]1([H])C[C@H](O)[C@]3(C)[C@]([H])(CC[C@@]3([H])[C@]1([H])[C@H](O)C2)[C@H](C)CCC(O)=O" xsd:string [Term] id: CHEBI:16383 name: cis-aconitate(3-) namespace: chebi_ontology alt_id: CHEBI:12798 alt_id: CHEBI:23306 def: "An aconitate(3-) that is the conjugate base of cis-aconitic acid." [] subset: 3_STAR synonym: "(1Z)-prop-1-ene-1,2,3-tricarboxylate" EXACT IUPAC_NAME [IUPAC] synonym: "cis-aconitate" RELATED [UniProt] xref: Gmelin:329168 {source="Gmelin"} xref: KEGG:C00417 xref: MetaCyc:CIS-ACONITATE is_a: CHEBI:22210 ! aconitate(3-) property_value: http://purl.obolibrary.org/obo/chebi/charge "-3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H3O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H6O6/c7-4(8)1-3(6(11)12)2-5(9)10/h1H,2H2,(H,7,8)(H,9,10)(H,11,12)/p-3/b3-1-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GTZCVFVGUGFEME-IWQZZHSRSA-K" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "171.08442" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "170.99461" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-]C(=O)C\\C(=C\\C([O-])=O)C([O-])=O" xsd:string [Term] id: CHEBI:16393 name: sphingosine namespace: chebi_ontology alt_id: CHEBI:15102 alt_id: CHEBI:207585 alt_id: CHEBI:26741 alt_id: CHEBI:9224 def: "A sphing-4-enine in which the double bond is trans." [] subset: 3_STAR synonym: "(2S,3R)-(E)-2-amino-1,3-dihydroxy-4-octadecene" RELATED [ChEBI] synonym: "(2S,3R,4E)-2-amino-3-hydroxyoctadec-4-ene-1-ol" RELATED [ChEBI] synonym: "(2S,3R,4E)-2-amino-4-octadecene-1,3-diol" RELATED [CBN] synonym: "(2S,3R,4E)-2-aminooctadec-4-ene-1,3-diol" EXACT IUPAC_NAME [IUPAC] synonym: "(2S,3R,E)-2-aminooctadec-4-ene-1,3-diol" RELATED [ChEMBL] synonym: "(4E)-sphing-4-enine" RELATED [IUPAC] synonym: "(4E)-sphingenine" RELATED [CBN] synonym: "(E)-2-amino-4-octadecan-1,3-diol" RELATED [ChemIDplus] synonym: "(E)-D-erythro-4-octadecene-1,3-diol" RELATED [ChEBI] synonym: "2-amino-4-octadecene-1,3-diol" RELATED [ChEBI] synonym: "C18 sphingosine" RELATED [ChEBI] synonym: "D-(+)-erythro-1,3-dihydroxy-2-amino-4-trans-octadecene" RELATED [ChEBI] synonym: "D-erythro-sphingosine" RELATED [ChEBI] synonym: "Sph" RELATED [CBN] synonym: "Sphing-4-enine" RELATED [KEGG_COMPOUND] synonym: "Sphingenine" RELATED [KEGG_COMPOUND] synonym: "Sphingoid" RELATED [KEGG_COMPOUND] synonym: "sphingosin" RELATED [ChEBI] synonym: "Sphingosine" EXACT [KEGG_COMPOUND] synonym: "Sphingosine d18:1" RELATED [ChEBI] synonym: "trans-4-sphingenine" RELATED [CBN] synonym: "trans-D-erythro-2-amino-4-octadecene-1,3-diol" RELATED [ChEBI] xref: Beilstein:1727294 {source="Beilstein"} xref: Beilstein:4676153 {source="Beilstein"} xref: CAS:123-78-4 {source="KEGG COMPOUND"} xref: CAS:123-78-4 {source="ChemIDplus"} xref: DrugBank:DB03203 xref: HMDB:HMDB0000252 xref: KEGG:C00319 xref: LIPID_MAPS_instance:LMSP01010001 {source="LIPID MAPS"} xref: PDBeChem:SQS xref: PMID:10453988 {source="Europe PMC"} xref: PMID:16341241 {source="Europe PMC"} xref: PMID:24731183 {source="Europe PMC"} xref: PMID:8482346 {source="Europe PMC"} xref: Reaxys:1727294 {source="Reaxys"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H37NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H37NO2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-18(21)17(19)16-20/h14-15,17-18,20-21H,2-13,16,19H2,1H3/b15-14+/t17-,18+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WWUZIQQURGPMPG-KRWOKUGFSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "299.49190" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "299.28243" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCCCCCCC\\C=C\\[C@@H](O)[C@@H](N)CO" xsd:string [Term] id: CHEBI:16411 name: indole-3-acetic acid namespace: chebi_ontology alt_id: CHEBI:24802 alt_id: CHEBI:5905 def: "A monocarboxylic acid that is acetic acid in which one of the methyl hydrogens has been replaced by a 1H-indol-3-yl group." [] subset: 3_STAR synonym: "(Indol-3-yl)acetate" RELATED [KEGG_COMPOUND] synonym: "(indol-3-yl)acetic acid" RELATED [UniProt] synonym: "1H-indol-3-ylacetic acid" EXACT IUPAC_NAME [IUPAC] synonym: "2-(indol-3-yl)ethanoic acid" RELATED [ChEBI] synonym: "3-Indolylessigsaeure" RELATED [ChEBI] synonym: "heteroauxin" RELATED [NIST_Chemistry_WebBook] synonym: "IAA" RELATED [NIST_Chemistry_WebBook] synonym: "IAA" RELATED [KEGG_COMPOUND] synonym: "IES" RELATED [ChEBI] synonym: "Indole-3-acetic acid" EXACT [KEGG_COMPOUND] synonym: "Indoleacetic acid" RELATED [KEGG_COMPOUND] xref: Beilstein:143358 {source="Beilstein"} xref: BPDB:1106 xref: CAS:87-51-4 {source="NIST Chemistry WebBook"} xref: CAS:87-51-4 {source="ChemIDplus"} xref: CAS:87-51-4 {source="KEGG COMPOUND"} xref: ChEMBL:234915 xref: ChemIDplus:87-51-4 xref: DrugBank:DB07950 xref: Gmelin:143197 {source="Gmelin"} xref: HMDB:HMDB0000197 xref: KEGG COMPOUND:87-51-4 xref: KEGG COMPOUND:C00954 xref: KEGG:C00954 xref: KNApSAcK:C00000100 xref: MeSH:C030737 xref: NIST Chemistry WebBook:87-51-4 xref: PDBeChem:IAC xref: PMID:13610897 {source="Europe PMC"} xref: PMID:23545355 {source="Europe PMC"} xref: PMID:24285754 {source="Europe PMC"} xref: Reaxys:143358 {source="Reaxys"} xref: SNOMEDCT:71532005 xref: Wikipedia:Indole-3-acetic_acid is_a: CHEBI:24532 ! organic heterocyclic compound is_a: EFO:0004416 ! acid relationship: has_role CHEBI:22676 ! auxin relationship: has_role CHEBI:37848 ! plant hormone property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H9NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H9NO2/c12-10(13)5-7-6-11-9-4-2-1-3-8(7)9/h1-4,6,11H,5H2,(H,12,13)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SEOVTRFCIGRIMH-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "175.18400" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "175.06333" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)Cc1c[nH]c2ccccc12" xsd:string [Term] id: CHEBI:16412 name: lipopolysaccharide namespace: chebi_ontology alt_id: CHEBI:14520 alt_id: CHEBI:25062 alt_id: CHEBI:6494 def: "Liposaccharide natural compounds consisting of a trisaccharide repeating unit (two heptose units and octulosonic acid) with oligosaccharide side chains and 3-hydroxytetradecanoic acid units (they are a major constituent of the cell walls of Gram-negative bacteria)." [] subset: 3_STAR synonym: "Lipopolysaccharide" EXACT [KEGG_COMPOUND] synonym: "lipopolysaccharides" RELATED [ChEBI] synonym: "LPS" RELATED [KEGG_COMPOUND] xref: KEGG:C00338 xref: PMID:15589368 {source="Europe PMC"} xref: PMID:24186868 {source="Europe PMC"} xref: PMID:24506665 {source="Europe PMC"} xref: PMID:24642373 {source="Europe PMC"} xref: PMID:24659348 {source="Europe PMC"} is_a: CHEBI:18059 ! lipid [Term] id: CHEBI:16422 alt_id: CHEBI:2709 [Term] id: CHEBI:16437 name: N-acetyl-L-histidine namespace: chebi_ontology alt_id: CHEBI:12462 alt_id: CHEBI:21554 alt_id: CHEBI:7153 def: "A histidine derivative that is L-histidine having an acetyl substituent on the alpha-nitrogen." [] subset: 3_STAR synonym: "N(2)-acetyl-L-histidine" EXACT IUPAC_NAME [IUPAC] synonym: "N-acetyl histidine" RELATED [ChEBI] synonym: "N-Acetyl-L-histidine" EXACT [KEGG_COMPOUND] synonym: "N-Acetylhistidine" RELATED [ChemIDplus] synonym: "N-alpha-L-histidine" RELATED [ChEBI] synonym: "N-Hydroxy-aabp" RELATED [ChemIDplus] xref: CAS:2497-02-1 {source="ChemIDplus"} xref: CAS:2497-02-1 {source="KEGG COMPOUND"} xref: HMDB:HMDB0032055 xref: KEGG:C02997 xref: MetaCyc:CPD-424 xref: PMID:26800898 {source="Europe PMC"} xref: PMID:5949241 {source="Europe PMC"} xref: PMID:7357028 {source="Europe PMC"} xref: PMID:9084403 {source="Europe PMC"} xref: PMID:9770642 {source="Europe PMC"} xref: Reaxys:748618 {source="Reaxys"} is_a: CHEBI:86910 ! N-acetylhistidine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H11N3O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H11N3O3/c1-5(12)11-7(8(13)14)2-6-3-9-4-10-6/h3-4,7H,2H2,1H3,(H,9,10)(H,11,12)(H,13,14)/t7-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KBOJOGQFRVVWBH-ZETCQYMHSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "197.19136" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "197.08004" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(=O)N[C@@H](Cc1cnc[nH]1)C(O)=O" xsd:string [Term] id: CHEBI:16449 name: alanine namespace: chebi_ontology alt_id: CHEBI:13748 alt_id: CHEBI:22277 alt_id: CHEBI:2539 def: "An alpha-amino acid that consists of propionic acid bearing an amino substituent at position 2." [] subset: 3_STAR synonym: "2-Aminopropanoic acid" RELATED [KEGG_COMPOUND] synonym: "2-aminopropanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "2-Aminopropionic acid" RELATED [KEGG_COMPOUND] synonym: "A" RELATED [ChEBI] synonym: "ALA" RELATED [ChEBI] synonym: "Alanin" RELATED [ChEBI] synonym: "alanina" RELATED [ChEBI] synonym: "Alanine" EXACT [KEGG_COMPOUND] synonym: "alanine" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:635807 {source="Beilstein"} xref: CAS:302-72-7 {source="ChemIDplus"} xref: CAS:302-72-7 {source="NIST Chemistry WebBook"} xref: CAS:302-72-7 {source="KEGG COMPOUND"} xref: Drug_Central:4306 {source="DrugCentral"} xref: Gmelin:2449 {source="Gmelin"} xref: KEGG:C01401 xref: MeSH:D000409 xref: NCIt:C29605 xref: PMID:17439666 {source="Europe PMC"} xref: PMID:22264337 {source="Europe PMC"} xref: Reaxys:635807 {source="Reaxys"} xref: SNOMEDCT:58753009 xref: Wikipedia:Alanine is_a: CHEBI:33709 ! amino acid relationship: has_role CHEBI:25212 ! metabolite property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H7NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H7NO2/c1-2(4)3(5)6/h2H,4H2,1H3,(H,5,6)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QNAYBMKLOCPYGJ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "89.09322" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "89.04768" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(N)C(O)=O" xsd:string [Term] id: CHEBI:16454 name: pantothenate namespace: chebi_ontology alt_id: CHEBI:14739 alt_id: CHEBI:25846 def: "A monocarboxylic acid anion that is the conjugate base of pantothenic acid, obtained by deprotonation of the carboxy group." [] subset: 3_STAR synonym: "3-(2,4-dihydroxy-3,3-dimethylbutanamido)propanoate" EXACT IUPAC_NAME [IUPAC] synonym: "N-(2,4-dihydroxy-3,3-dimethylbutanoyl)-beta-alaninate" RELATED [ChEBI] synonym: "pantothenate" EXACT [UniProt] xref: PMID:21463532 {source="Europe PMC"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H16NO5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H17NO5/c1-9(2,5-11)7(14)8(15)10-4-3-6(12)13/h7,11,14H,3-5H2,1-2H3,(H,10,15)(H,12,13)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GHOKWGTUZJEAQD-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "218.22700" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "218.10340" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)(CO)C(O)C(=O)NCCC([O-])=O" xsd:string [Term] id: CHEBI:16467 name: L-arginine namespace: chebi_ontology alt_id: CHEBI:13077 alt_id: CHEBI:21235 alt_id: CHEBI:42927 alt_id: CHEBI:6185 def: "An L-alpha-amino acid that is the L-isomer of arginine." [] subset: 3_STAR synonym: "(2S)-2-amino-5-(carbamimidamido)pentanoic acid" RELATED [IUPAC] synonym: "(2S)-2-amino-5-guanidinopentanoic acid" RELATED [JCBN] synonym: "(S)-2-amino-5-guanidinopentanoic acid" RELATED [ChEBI] synonym: "(S)-2-Amino-5-guanidinovaleric acid" RELATED [KEGG_COMPOUND] synonym: "Arg" RELATED [DrugBank] synonym: "arginine" RELATED INN [KEGG_DRUG] synonym: "L-(+)-arginine" RELATED [NIST_Chemistry_WebBook] synonym: "L-Arg" RELATED [DrugBank] synonym: "L-Arginin" RELATED [ChEBI] synonym: "L-Arginine" EXACT [KEGG_COMPOUND] synonym: "L-arginine" EXACT IUPAC_NAME [IUPAC] synonym: "R" RELATED [MetaCyc] xref: Beilstein:1725413 {source="ChemIDplus"} xref: CAS:74-79-3 {source="KEGG COMPOUND"} xref: CAS:74-79-3 {source="NIST Chemistry WebBook"} xref: CAS:74-79-3 {source="ChemIDplus"} xref: ChemIDplus:74-79-3 xref: Drug_Central:1549 {source="DrugCentral"} xref: DrugBank:DB00125 xref: ECMDB:ECMDB00517 xref: Gmelin:83283 {source="Gmelin"} xref: HMDB:HMDB0000517 xref: KEGG COMPOUND:C00062 xref: KEGG:C00062 xref: KEGG:D02982 xref: KNApSAcK:C00001340 xref: MetaCyc:ARG xref: PDBeChem:ARG xref: PDBeChem:GND xref: PMID:10848923 {source="Europe PMC"} xref: PMID:11139824 {source="Europe PMC"} xref: PMID:11300497 {source="Europe PMC"} xref: PMID:11898853 {source="Europe PMC"} xref: PMID:12812828 {source="Europe PMC"} xref: PMID:15016745 {source="Europe PMC"} xref: PMID:15465805 {source="Europe PMC"} xref: PMID:16056256 {source="Europe PMC"} xref: PMID:16416365 {source="Europe PMC"} xref: PMID:17168727 {source="Europe PMC"} xref: PMID:17439666 {source="Europe PMC"} xref: PMID:19030957 {source="Europe PMC"} xref: PMID:21600268 {source="Europe PMC"} xref: PMID:21814794 {source="Europe PMC"} xref: PMID:22179117 {source="Europe PMC"} xref: PMID:22243793 {source="Europe PMC"} xref: PMID:22251130 {source="Europe PMC"} xref: PMID:22361732 {source="Europe PMC"} xref: PMID:22425811 {source="Europe PMC"} xref: PMID:22428068 {source="Europe PMC"} xref: PMID:22439203 {source="Europe PMC"} xref: PMID:22553931 {source="Europe PMC"} xref: PMID:22619480 {source="Europe PMC"} xref: PMID:22626826 {source="Europe PMC"} xref: PMID:22652429 {source="Europe PMC"} xref: PMID:22667467 {source="Europe PMC"} xref: PMID:22709481 {source="Europe PMC"} xref: PMID:8070089 {source="Europe PMC"} xref: Reaxys:1725413 {source="Reaxys"} xref: Wikipedia:L-arginine xref: YMDB:YMDB00592 is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H14N4O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H14N4O2/c7-4(5(11)12)2-1-3-10-6(8)9/h4H,1-3,7H2,(H,11,12)(H4,8,9,10)/t4-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ODKSFYDXXFIFQN-BYPYZUCNSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "174.20100" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "174.11168" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "N[C@@H](CCCNC(N)=N)C(O)=O" xsd:string [Term] id: CHEBI:16469 name: 17beta-estradiol namespace: chebi_ontology alt_id: CHEBI:14219 alt_id: CHEBI:23963 alt_id: CHEBI:42475 alt_id: CHEBI:4864 def: "The 17beta-isomer of estradiol." [] subset: 3_STAR synonym: "(17beta)-estra-1,3,5(10)-triene-3,17-diol" RELATED [ChemIDplus] synonym: "17beta oestradiol" RELATED [ChEBI] synonym: "17beta-estra-1,3,5(10)-triene-3,17-diol" RELATED [NIST_Chemistry_WebBook] synonym: "17beta-estradiol" EXACT [UniProt] synonym: "17beta-estradiol" EXACT [NIST_Chemistry_WebBook] synonym: "17beta-oestradiol" RELATED [NIST_Chemistry_WebBook] synonym: "beta-Estradiol" RELATED [KEGG_COMPOUND] synonym: "cis-estradiol" RELATED [NIST_Chemistry_WebBook] synonym: "estra-1,3,5(10)-triene-3,17beta-diol" EXACT IUPAC_NAME [IUPAC] synonym: "ESTRADIOL" RELATED [PDBeChem] synonym: "Estradiol" RELATED [KEGG_COMPOUND] synonym: "Estradiol-17beta" RELATED [KEGG_COMPOUND] xref: Beilstein:1914275 {source="Beilstein"} xref: CAS:50-28-2 {source="KEGG COMPOUND"} xref: CAS:50-28-2 {source="NIST Chemistry WebBook"} xref: CAS:50-28-2 {source="ChemIDplus"} xref: Chemspider:5554 xref: Drug_Central:1057 {source="DrugCentral"} xref: DrugBank:DB00783 xref: Gmelin:290805 {source="Gmelin"} xref: HMDB:HMDB0000151 xref: KEGG:C00951 xref: KEGG:D00105 xref: LINCS:LSM-2421 xref: LIPID_MAPS_instance:LMST02010001 {source="LIPID MAPS"} xref: PDBeChem:EST xref: PMID:10438974 {source="Europe PMC"} xref: PMID:10585175 {source="Europe PMC"} xref: PMID:10843196 {source="Europe PMC"} xref: PMID:11703424 {source="Europe PMC"} xref: PMID:14681337 {source="Europe PMC"} xref: PMID:16313478 {source="Europe PMC"} xref: PMID:17124377 {source="Europe PMC"} xref: PMID:1777462 {source="Europe PMC"} xref: PMID:23901460 {source="Europe PMC"} xref: PMID:24134630 {source="Europe PMC"} xref: PMID:24449492 {source="Europe PMC"} xref: PMID:3621671 {source="Europe PMC"} xref: PMID:8098802 {source="Europe PMC"} xref: PMID:8567793 {source="Europe PMC"} xref: Reaxys:1914275 {source="Reaxys"} xref: Wikipedia:Estradiol is_a: CHEBI:23965 ! estradiol property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H24O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H24O2/c1-18-9-8-14-13-5-3-12(19)10-11(13)2-4-15(14)16(18)6-7-17(18)20/h3,5,10,14-17,19-20H,2,4,6-9H2,1H3/t14-,15-,16+,17+,18+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VOXZDWNPVJITMN-ZBRFXRBCSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "272.38200" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "272.17763" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]12CC[C@]3(C)[C@@H](O)CC[C@@]3([H])[C@]1([H])CCc1cc(O)ccc21" xsd:string [Term] id: CHEBI:16482 name: naphthalene namespace: chebi_ontology alt_id: CHEBI:14638 alt_id: CHEBI:25469 alt_id: CHEBI:44619 alt_id: CHEBI:7472 def: "An aromatic hydrocarbon comprising two fused benzene rings. It occurs in the essential oils of numerous plant species e.g. magnolia." [] subset: 3_STAR synonym: "naftaleno" RELATED [ChEBI] synonym: "naftalina" RELATED [ChEBI] synonym: "naphtalene" RELATED [ChEBI] synonym: "naphtaline" RELATED [ChEBI] synonym: "Naphthalen" RELATED [ChEBI] synonym: "NAPHTHALENE" EXACT [PDBeChem] synonym: "Naphthalene" EXACT [KEGG_COMPOUND] synonym: "naphthalene" EXACT [UniProt] synonym: "naphthalene" EXACT IUPAC_NAME [IUPAC] synonym: "Naphthalin" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:1421310 {source="Beilstein"} xref: CAS:91-20-3 {source="ChemIDplus"} xref: CAS:91-20-3 {source="KEGG COMPOUND"} xref: CAS:91-20-3 {source="NIST Chemistry WebBook"} xref: Gmelin:3347 {source="Gmelin"} xref: HMDB:HMDB0029751 xref: KEGG:C00829 xref: KNApSAcK:C00001259 xref: MetaCyc:NAPHTHALENE xref: PDBeChem:NPY xref: PMID:10814889 {source="Europe PMC"} xref: PMID:11202734 {source="Europe PMC"} xref: PMID:16220979 {source="Europe PMC"} xref: PMID:16699520 {source="Europe PMC"} xref: PMID:17850896 {source="Europe PMC"} xref: PMID:26875834 {source="Europe PMC"} xref: PMID:26895256 {source="Europe PMC"} xref: PMID:27439360 {source="Europe PMC"} xref: PPDB:1312 xref: Reaxys:1421310 {source="Reaxys"} xref: UM-BBD_compID:c0333 {source="UM-BBD"} xref: Wikipedia:Naphthalene is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H8" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H8/c1-2-6-10-8-4-3-7-9(10)5-1/h1-8H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UFWIBTONFRDIAS-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "128.17052" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "128.06260" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "c1ccc2ccccc2c1" xsd:string [Term] id: CHEBI:16522 name: trans-zeatin namespace: chebi_ontology alt_id: CHEBI:10107 alt_id: CHEBI:12882 alt_id: CHEBI:27359 def: "The trans-isomer of zeatin." [] subset: 3_STAR synonym: "(2E)-2-methyl-4-(9H-purin-6-ylamino)but-2-en-1-ol" EXACT IUPAC_NAME [IUPAC] synonym: "(E)-2-methyl-4-(1H-purin-6-ylamino)-2-buten-1-ol" RELATED [ChemIDplus] synonym: "(E)-2-Methyl-4-(1H-purin-6-ylamino)but-2-en-1-ol" RELATED [KEGG_COMPOUND] synonym: "(E)-2-methyl-4-(1H-purin-6-ylamino)but-2-en-1-ol" RELATED [IUBMB] synonym: "(E)-2-methyl-4-(purin-6-ylamino)-2-buten-1-ol" RELATED [ChemIDplus] synonym: "(E)-zeatin" RELATED [ChemIDplus] synonym: "N6-(4-Hydroxyisopentenyl)adenine" RELATED [KEGG_COMPOUND] synonym: "trans-Zeatin" EXACT [KEGG_COMPOUND] synonym: "trans-zeatin" EXACT [UniProt] synonym: "Zeatin" RELATED [KEGG_COMPOUND] xref: AGR:IND605478333 {source="Europe PMC"} xref: Beilstein:616241 {source="Beilstein"} xref: BPDB:1629 xref: CAS:1637-39-4 {source="KEGG COMPOUND"} xref: CAS:1637-39-4 {source="ChemIDplus"} xref: CAS:32771-64-5 {source="KEGG COMPOUND"} xref: KEGG:C00371 xref: KNApSAcK:C00000091 xref: MeSH:D015026 xref: MetaCyc:CPD-4210 xref: NCIt:C72219 xref: NCIt:C95164 xref: PDBeChem:ZEA xref: PMID:12595714 {source="Europe PMC"} xref: PMID:15321719 {source="Europe PMC"} xref: PMID:16998071 {source="Europe PMC"} xref: PMID:18718563 {source="Europe PMC"} xref: PMID:21964459 {source="Europe PMC"} xref: PMID:23187681 {source="Europe PMC"} xref: PMID:23280040 {source="Europe PMC"} xref: PMID:23656869 {source="Europe PMC"} xref: PMID:24311578 {source="Europe PMC"} xref: PMID:27613625 {source="Europe PMC"} xref: PMID:28737742 {source="Europe PMC"} xref: PMID:29630775 {source="Europe PMC"} xref: PMID:29764985 {source="Europe PMC"} xref: PMID:31682013 {source="Europe PMC"} xref: PMID:33178280 {source="Europe PMC"} xref: PMID:33999454 {source="Europe PMC"} xref: Reaxys:616241 {source="Reaxys"} xref: SNOMEDCT:85822005 xref: Wikipedia:Zeatin is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role EFO:0001824 ! hormone role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H13N5O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H13N5O/c1-7(4-16)2-3-11-9-8-10(13-5-12-8)15-6-14-9/h2,5-6,16H,3-4H2,1H3,(H2,11,12,13,14,15)/b7-2+" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UZKQTCBAMSWPJD-FARCUNLSSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "219.248" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "219.11201" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C\\C(CO)=C/CNC1=C2N=CNC2=NC=N1" xsd:string [Term] id: CHEBI:16523 name: D-serine namespace: chebi_ontology alt_id: CHEBI:13019 alt_id: CHEBI:143888 alt_id: CHEBI:21090 alt_id: CHEBI:42262 alt_id: CHEBI:4245 def: "The R-enantiomer of serine." [] subset: 3_STAR synonym: "(2R)-2-amino-3-hydroxypropanoic acid" RELATED [IUPAC] synonym: "(R)-2-Amino-3-hydroxy-propionic acid" RELATED [ChEMBL] synonym: "(R)-2-amino-3-hydroxypropanoic acid" RELATED [ChEBI] synonym: "D-Serin" RELATED [ChEBI] synonym: "D-SERINE" EXACT [PDBeChem] synonym: "D-Serine" EXACT [KEGG_COMPOUND] synonym: "D-serine" EXACT IUPAC_NAME [IUPAC] synonym: "DSN" RELATED [PDBeChem] xref: Beilstein:1721403 {source="Beilstein"} xref: CAS:312-84-5 {source="ChemIDplus"} xref: CAS:312-84-5 {source="NIST Chemistry WebBook"} xref: CAS:312-84-5 {source="KEGG COMPOUND"} xref: DrugBank:DB03929 xref: ECMDB:ECMDB03406 xref: Gmelin:1041392 {source="Gmelin"} xref: HMDB:HMDB0003406 xref: KEGG:C00740 xref: MetaCyc:D-SERINE xref: NCIt:C61739 xref: PDBeChem:DSN xref: PMID:11864625 {source="Europe PMC"} xref: PMID:12850593 {source="Europe PMC"} xref: PMID:19212759 {source="Europe PMC"} xref: PMID:19217074 {source="Europe PMC"} xref: PMID:21295046 {source="Europe PMC"} xref: PMID:21914633 {source="Europe PMC"} xref: PMID:21956571 {source="Europe PMC"} xref: PMID:22117694 {source="Europe PMC"} xref: PMID:22128843 {source="Europe PMC"} xref: PMID:22266400 {source="Europe PMC"} xref: PMID:22280157 {source="Europe PMC"} xref: PMID:22362148 {source="Europe PMC"} xref: PMID:22369458 {source="Europe PMC"} xref: PMID:22445805 {source="Europe PMC"} xref: PMID:22465696 {source="Europe PMC"} xref: PMID:22486999 {source="Europe PMC"} xref: Reaxys:1721403 {source="Reaxys"} xref: YMDB:YMDB00284 is_a: CHEBI:17822 ! serine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H7NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H7NO3/c4-2(1-5)3(6)7/h2,5H,1,4H2,(H,6,7)/t2-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "MTCFGRXMJLQNBG-UWTATZPHSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "105.09262" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "105.04259" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "N[C@H](CO)C(O)=O" xsd:string [Term] id: CHEBI:16526 name: carbon dioxide namespace: chebi_ontology alt_id: CHEBI:13282 alt_id: CHEBI:13283 alt_id: CHEBI:13284 alt_id: CHEBI:13285 alt_id: CHEBI:23011 alt_id: CHEBI:3283 alt_id: CHEBI:48829 def: "A one-carbon compound with formula CO2 in which the carbon is attached to each oxygen atom by a double bond. A colourless, odourless gas under normal conditions, it is produced during respiration by all animals, fungi and microorganisms that depend directly or indirectly on living or decaying plants for food." [] subset: 3_STAR synonym: "[CO2]" RELATED [MolBase] synonym: "CARBON DIOXIDE" EXACT [PDBeChem] synonym: "Carbon dioxide" EXACT [KEGG_COMPOUND] synonym: "carbon dioxide" EXACT IUPAC_NAME [IUPAC] synonym: "carbonic anhydride" RELATED [UM-BBD] synonym: "CO2" RELATED [UniProt] synonym: "CO2" RELATED [KEGG_COMPOUND] synonym: "dioxidocarbon" EXACT IUPAC_NAME [IUPAC] synonym: "E 290" RELATED [ChEBI] synonym: "E-290" RELATED [ChEBI] synonym: "E290" RELATED [ChEBI] synonym: "methanedione" EXACT IUPAC_NAME [IUPAC] synonym: "R-744" RELATED [ChEBI] xref: Beilstein:1900390 {source="Beilstein"} xref: CAS:124-38-9 {source="ChemIDplus"} xref: CAS:124-38-9 {source="NIST Chemistry WebBook"} xref: CAS:124-38-9 {source="KEGG COMPOUND"} xref: Drug_Central:4256 {source="DrugCentral"} xref: Gmelin:989 {source="Gmelin"} xref: HMDB:HMDB0001967 xref: KEGG:C00011 xref: KEGG:D00004 xref: MetaCyc:CARBON-DIOXIDE xref: MolBase:752 xref: PDBeChem:CO2 xref: PMID:10826146 {source="Europe PMC"} xref: PMID:11094503 {source="Europe PMC"} xref: PMID:11584085 {source="Europe PMC"} xref: PMID:11802652 {source="Europe PMC"} xref: PMID:14639145 {source="Europe PMC"} xref: PMID:15050588 {source="Europe PMC"} xref: PMID:16591971 {source="Europe PMC"} xref: PMID:16656478 {source="Europe PMC"} xref: PMID:16659660 {source="Europe PMC"} xref: PMID:17190796 {source="Europe PMC"} xref: PMID:17448243 {source="Europe PMC"} xref: PMID:17878298 {source="Europe PMC"} xref: PMID:17884085 {source="Europe PMC"} xref: PMID:19043767 {source="Europe PMC"} xref: PMID:19259576 {source="Europe PMC"} xref: PMID:19854893 {source="Europe PMC"} xref: PMID:23384758 {source="Europe PMC"} xref: PMID:23828359 {source="Europe PMC"} xref: PMID:24258718 {source="Europe PMC"} xref: PMID:8482095 {source="Europe PMC"} xref: PMID:8818713 {source="Europe PMC"} xref: PMID:8869828 {source="Europe PMC"} xref: PMID:9611769 {source="Europe PMC"} xref: PMID:9730350 {source="Europe PMC"} xref: PPDB:119 xref: Reaxys:1900390 {source="Reaxys"} xref: UM-BBD_compID:c0131 {source="UM-BBD"} xref: Wikipedia:Carbon_dioxide is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "CO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/CO2/c2-1-3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CURLTUGMZLYLDI-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "44.010" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "43.98983" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O=C=O" xsd:string [Term] id: CHEBI:165498 name: 1-O-alpha-D-Glucopyranosyl-1,2-nonadecandiol namespace: chebi_ontology subset: 2_STAR synonym: "(3S,5S,6S)-2-(hydroxymethyl)-6-(2-hydroxynonadecoxy)oxane-3,4,5-triol" EXACT IUPAC_NAME [SUBMITTER] xref: Chemspider:24822115 xref: LIPID_MAPS_instance:LMFA13010006 {source="LIPID MAPS"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C25H50O7" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C25H50O7/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-20(27)19-31-25-24(30)23(29)22(28)21(18-26)32-25/h20-30H,2-19H2,1H3/t20?,21?,22-,23?,24+,25+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JTORERGMBRHZTA-XRZJDDJOSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "462.668" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "462.35565" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O1C([C@@H](O)C(O)[C@H](O)[C@H]1OCC(O)CCCCCCCCCCCCCCCCC)CO" xsd:string [Term] id: CHEBI:16552 name: N-formyl-L-methionine namespace: chebi_ontology alt_id: CHEBI:12506 alt_id: CHEBI:21714 alt_id: CHEBI:5153 alt_id: CHEBI:7279 def: "A L-methionine derivative in which one of the hydrogens attached to the nitrogen is replaced by a formyl group." [] subset: 3_STAR synonym: "(2S)-2-(formylamino)-4-(methylthio)butanoic acid" RELATED [ChEBI] synonym: "(2S)-2-formamido-4-(methylsulfanyl)butanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "Formyl-methionine" RELATED [KEGG_COMPOUND] synonym: "N-Formyl-L-methionine" EXACT [KEGG_COMPOUND] synonym: "N-formyl-L-methionine" EXACT IUPAC_NAME [IUPAC] synonym: "N-formylmethionine" RELATED [ChemIDplus] xref: Beilstein:1725218 {source="Beilstein"} xref: CAS:4289-98-9 {source="KEGG COMPOUND"} xref: CAS:4289-98-9 {source="ChemIDplus"} xref: DrugBank:DB04464 xref: HMDB:HMDB0001015 xref: KEGG:C03145 xref: MetaCyc:N-FORMYLMETHIONINE xref: PDBeChem:FME xref: PMID:22770225 {source="Europe PMC"} xref: Reaxys:1725218 {source="Reaxys"} xref: Wikipedia:Formylmethionine is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H11NO3S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H11NO3S/c1-11-3-2-5(6(9)10)7-4-8/h4-5H,2-3H2,1H3,(H,7,8)(H,9,10)/t5-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PYUSHNKNPOHWEZ-YFKPBYRVSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "177.22248" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "177.04596" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H]C(=O)N[C@@H](CCSC)C(O)=O" xsd:string [Term] id: CHEBI:165587 name: Margaroyl-EA namespace: chebi_ontology subset: 2_STAR synonym: "N-(2-hydroxyethyl)heptadecanamide" EXACT IUPAC_NAME [SUBMITTER] xref: CAS:53832-59-0 {source="ChemIDplus"} xref: Chemspider:21467441 xref: LIPID_MAPS_instance:LMFA08040049 {source="LIPID MAPS"} is_a: CHEBI:18059 ! lipid is_a: CHEBI:52640 ! N-acylethanolamine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H39NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H39NO2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-19(22)20-17-18-21/h21H,2-18H2,1H3,(H,20,22)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GCCFMSAXQJECNH-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "313.526" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "313.29808" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O=C(NCCO)CCCCCCCCCCCCCCCC" xsd:string [Term] id: CHEBI:16566 name: sphinganine namespace: chebi_ontology alt_id: CHEBI:15099 alt_id: CHEBI:26736 alt_id: CHEBI:26737 alt_id: CHEBI:549953 alt_id: CHEBI:9221 def: "A 2-aminooctadecane-1,3-diol having (2S,3R)-configuration." [] subset: 3_STAR synonym: "(2S,3R)-2-amino-1,3-octadecanediol" RELATED [ChemIDplus] synonym: "(2S,3R)-2-aminooctadecane-1,3-diol" RELATED [JCBN] synonym: "(R-(R*,S*))-2-aminooctadecane-1,3-diol" RELATED [ChemIDplus] synonym: "2-Amino-1,3-dihydroxyoctadecane" RELATED [KEGG_COMPOUND] synonym: "C18-dihydrosphingosine" RELATED [ChemIDplus] synonym: "C18-sphinganine" RELATED [ChEBI] synonym: "D-erythro-1,3-dihydroxy-2-aminooctadecane" RELATED [ChemIDplus] synonym: "D-erythro-2-amino-1,3-octadecanediol" RELATED [ChemIDplus] synonym: "D-erythro-C18-dihydrosphingosine" RELATED [ChemIDplus] synonym: "d18:0" RELATED [ChEBI] synonym: "Dihydrosphingosine" RELATED [KEGG_COMPOUND] synonym: "octadecasphinganine" RELATED [ChemIDplus] synonym: "Safingol" RELATED [ChemIDplus] synonym: "Sphinganine" EXACT [KEGG_COMPOUND] synonym: "sphinganine" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:1724230 {source="Beilstein"} xref: CAS:764-22-7 {source="ChemIDplus"} xref: CAS:764-22-7 {source="KEGG COMPOUND"} xref: HMDB:HMDB0000269 xref: KEGG:C00836 xref: KNApSAcK:C00007540 xref: LIPID_MAPS_instance:LMSP01020001 {source="LIPID MAPS"} xref: MetaCyc:CPD-13612 xref: PMID:17085324 {source="Europe PMC"} xref: PMID:1817037 {source="Europe PMC"} xref: PMID:7654391 {source="Europe PMC"} xref: PMID:7819132 {source="Europe PMC"} xref: Reaxys:1724230 {source="Reaxys"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H39NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H39NO2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-18(21)17(19)16-20/h17-18,20-21H,2-16,19H2,1H3/t17-,18+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OTKJDMGTUTTYMP-ZWKOTPCHSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "301.50780" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "301.29808" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCCCCCCCCC[C@@H](O)[C@@H](N)CO" xsd:string [Term] id: CHEBI:16587 name: 20-hydroxyecdysone namespace: chebi_ontology alt_id: CHEBI:11661 alt_id: CHEBI:1292 alt_id: CHEBI:19795 alt_id: CHEBI:49387 alt_id: CHEBI:57827 def: "An ecdysteroid that is ecdysone substituted by a hydroxy group at position 20." [] subset: 3_STAR synonym: "(22R)-2beta,3beta,14alpha,20,22,25-hexahydroxy-5beta-cholest-7-en-6-one" EXACT IUPAC_NAME [IUPAC] synonym: "20-Hydroxyecdysone" EXACT [KEGG_COMPOUND] synonym: "20-hydroxyecdysone" EXACT [UniProt] synonym: "20-OH ecdysone" RELATED [ChEBI] synonym: "beta-Ecdysone" RELATED [ChemIDplus] synonym: "beta-Ecdysterone" RELATED [ChemIDplus] synonym: "Crustecdysone" RELATED [KEGG_COMPOUND] synonym: "Ecdysterone" RELATED [KEGG_COMPOUND] xref: CAS:5289-74-7 {source="ChemIDplus"} xref: CAS:5289-74-7 {source="KEGG COMPOUND"} xref: HMDB:HMDB0030180 xref: KEGG:C02633 xref: KNApSAcK:C00003654 xref: LIPID_MAPS_instance:LMST01010209 {source="LIPID MAPS"} xref: MeSH:D004441 xref: MeSH:D013253 xref: MetaCyc:CPD-276 xref: PDBeChem:20E xref: PMID:15609826 {source="Europe PMC"} xref: PMID:25593010 {source="Europe PMC"} xref: PMID:8748375 {source="Europe PMC"} xref: Reaxys:1917578 {source="Reaxys"} xref: Wikipedia:20-Hydroxyecdysone is_a: CHEBI:15889 ! sterol relationship: has_role CHEBI:26764 ! steroid hormone property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C27H44O7" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C27H44O7/c1-23(2,32)9-8-22(31)26(5,33)21-7-11-27(34)16-12-18(28)17-13-19(29)20(30)14-24(17,3)15(16)6-10-25(21,27)4/h12,15,17,19-22,29-34H,6-11,13-14H2,1-5H3/t15-,17-,19+,20-,21-,22+,24+,25+,26+,27+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NKDFYOWSKOHCCO-YPVLXUMRSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "480.63406" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "480.30870" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]12CC[C@]3(C)[C@]([H])(CC[C@@]3(O)C1=CC(=O)[C@]1([H])C[C@@H](O)[C@@H](O)C[C@]21C)[C@@](C)(O)[C@H](O)CCC(C)(C)O" xsd:string [Term] id: CHEBI:16602 name: trichloroethene namespace: chebi_ontology alt_id: CHEBI:15257 alt_id: CHEBI:27099 alt_id: CHEBI:9686 def: "A member of the class of chloroethenes that is ethene substituted by chloro groups at positions 1, 1 and 2." [] subset: 3_STAR synonym: "1,1,2-trichloroethene" EXACT IUPAC_NAME [IUPAC] synonym: "1,1-dichloro-2-chloroethylene" RELATED [ChemIDplus] synonym: "acetylene trichloride" RELATED [UM-BBD] synonym: "ethinyl trichloride" RELATED [UM-BBD] synonym: "ethylene trichloride" RELATED [UM-BBD] synonym: "Narcogen" RELATED [NIST_Chemistry_WebBook] synonym: "TCE" RELATED [KEGG_COMPOUND] synonym: "trichlor" RELATED [ChEBI] synonym: "Trichloraethen" RELATED [ChEBI] synonym: "Trichloraethylen" RELATED [ChEBI] synonym: "trichloraethylenum pro narcosi" RELATED [ChEBI] synonym: "trichlorethylene" RELATED [ChEBI] synonym: "Trichloroethene" EXACT [KEGG_COMPOUND] synonym: "trichloroethene" EXACT [UniProt] synonym: "Trichloroethylene" RELATED [KEGG_COMPOUND] synonym: "trichloroethylene" RELATED [ChEBI] synonym: "trichloroethylenum" RELATED [ChemIDplus] synonym: "triciene" RELATED [UM-BBD] xref: Beilstein:1736782 {source="ChemIDplus"} xref: CAS:79-01-6 {source="ChemIDplus"} xref: CAS:79-01-6 {source="NIST Chemistry WebBook"} xref: CAS:79-01-6 {source="KEGG COMPOUND"} xref: Drug_Central:3628 {source="DrugCentral"} xref: Gmelin:184631 {source="Gmelin"} xref: HMDB:HMDB0029593 xref: KEGG:C06790 xref: LINCS:LSM-37096 xref: MeSH:D014241 xref: NCIt:C44459 xref: PDBeChem:TCV xref: PMID:10459493 {source="Europe PMC"} xref: PMID:11280697 {source="Europe PMC"} xref: PMID:14780843 {source="Europe PMC"} xref: PMID:15019957 {source="Europe PMC"} xref: PMID:16641322 {source="Europe PMC"} xref: PMID:24517489 {source="Europe PMC"} xref: PMID:25278505 {source="Europe PMC"} xref: PMID:33930529 {source="Europe PMC"} xref: PMID:8319644 {source="Europe PMC"} xref: Reaxys:1736782 {source="Reaxys"} xref: SNOMEDCT:16808006 xref: UM-BBD_compID:c0009 {source="UM-BBD"} xref: Wikipedia:Trichloroethylene is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:38870 ! inhalation anaesthetic property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C2HCl3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C2HCl3/c3-1-2(4)5/h1H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XSTXAVWGXDQKEL-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "131.380" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "129.91438" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "ClC=C(Cl)Cl" xsd:string [Term] id: CHEBI:16605 name: allyl alcohol namespace: chebi_ontology alt_id: CHEBI:13763 alt_id: CHEBI:19765 alt_id: CHEBI:2604 def: "A propenol in which the C=C bond connects C-2 and C-3. It is has been found in garlic (Allium sativum). Formerly used as a herbicide for the control of various grass and weed seeds." [] subset: 3_STAR synonym: "2-Propen-1-ol" RELATED [KEGG_COMPOUND] synonym: "2-Propenol" RELATED [ChemIDplus] synonym: "2-Propenyl alcohol" RELATED [ChemIDplus] synonym: "3-Hydroxypropene" RELATED [ChemIDplus] synonym: "Allyl alcohol" EXACT [KEGG_COMPOUND] synonym: "allyl alcohol" EXACT [UniProt] synonym: "prop-2-en-1-ol" EXACT IUPAC_NAME [IUPAC] synonym: "Vinyl carbinol" RELATED [ChemIDplus] synonym: "Vinylcarbinol" RELATED [ChemIDplus] xref: CAS:107-18-6 {source="ChemIDplus"} xref: CAS:107-18-6 {source="KEGG COMPOUND"} xref: HMDB:HMDB0031652 xref: KEGG:C02001 xref: MetaCyc:ALLYL-ALCOHOL xref: PMID:18383315 {source="Europe PMC"} xref: PMID:24594943 {source="Europe PMC"} xref: PPDB:2698 xref: Reaxys:605307 {source="Reaxys"} xref: Wikipedia:Allyl_alcohol is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H6O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H6O/c1-2-3-4/h2,4H,1,3H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XXROGKLTLUQVRX-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "58.07914" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "58.04186" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OCC=C" xsd:string [Term] id: CHEBI:16610 name: spermidine namespace: chebi_ontology alt_id: CHEBI:15095 alt_id: CHEBI:15097 alt_id: CHEBI:26732 alt_id: CHEBI:26733 alt_id: CHEBI:45647 alt_id: CHEBI:9218 def: "A triamine that is the 1,5,10-triaza derivative of decane." [] subset: 3_STAR synonym: "1,5,10-triazadecane" RELATED [ChemIDplus] synonym: "4-azaoctamethylenediamine" RELATED [ChemIDplus] synonym: "4-azaoctane-1,8-diamine" RELATED [IUBMB] synonym: "N-(3-Aminopropyl)-1,4-butane-diamine" RELATED [KEGG_COMPOUND] synonym: "N-(3-aminopropyl)butane-1,4-diamine" EXACT IUPAC_NAME [IUPAC] synonym: "Spermidin" RELATED [ChEBI] synonym: "SPERMIDINE" EXACT [PDBeChem] synonym: "Spermidine" EXACT [KEGG_COMPOUND] xref: Beilstein:1698591 {source="ChemIDplus"} xref: CAS:124-20-9 {source="ChemIDplus"} xref: CAS:124-20-9 {source="KEGG COMPOUND"} xref: DrugBank:DB03566 xref: Gmelin:454510 {source="Gmelin"} xref: HMDB:HMDB0001257 xref: KEGG:C00315 xref: KNApSAcK:C00001431 xref: LINCS:LSM-37075 xref: MetaCyc:SPERMIDINE xref: PDBeChem:SPD xref: PMID:1176793 {source="Europe PMC"} xref: PMID:19801973 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: PMID:30306826 {source="Europe PMC"} xref: PMID:516181 {source="Europe PMC"} xref: PMID:6156039 {source="Europe PMC"} xref: PMID:7350997 {source="Europe PMC"} xref: Reaxys:1698591 {source="Reaxys"} xref: Wikipedia:Spermidine is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H19N3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H19N3/c8-4-1-2-6-10-7-3-5-9/h10H,1-9H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ATHGHQPFGPMSJY-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "145.24598" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "145.15790" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NCCCCNCCCN" xsd:string [Term] id: CHEBI:16632 name: vanillate namespace: chebi_ontology alt_id: CHEBI:15301 alt_id: CHEBI:27277 alt_id: CHEBI:46315 def: "A methoxybenzoate that is the conjugate base of vanillic acid." [] subset: 3_STAR synonym: "4-HYDROXY-3-METHOXYBENZOATE" RELATED [PDBeChem] synonym: "4-hydroxy-3-methoxybenzoate" EXACT IUPAC_NAME [IUPAC] synonym: "vanillate" EXACT [UniProt] xref: Beilstein:6504377 {source="Beilstein"} xref: DrugBank:DB08711 xref: KEGG:C06672 xref: PDBeChem:VNL xref: Reaxys:6504377 {source="Reaxys"} xref: UM-BBD_compID:c0194 {source="UM-BBD"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H7O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H8O4/c1-12-7-4-5(8(10)11)2-3-6(7)9/h2-4,9H,1H3,(H,10,11)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WKOLLVMJNQIZCI-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "167.13878" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "167.03498" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "COc1cc(ccc1O)C([O-])=O" xsd:string [Term] id: CHEBI:16646 name: carbohydrate namespace: chebi_ontology alt_id: CHEBI:15131 alt_id: CHEBI:23008 alt_id: CHEBI:9318 def: "Any member of the class of organooxygen compounds that is a polyhydroxy-aldehyde or -ketone or a lactol resulting from their intramolecular condensation (monosaccharides); substances derived from these by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom; and polymeric products arising by intermolecular acetal formation between two or more such molecules (disaccharides, polysaccharides and oligosaccharides). Carbohydrates contain only carbon, hydrogen and oxygen atoms; prior to any oxidation or reduction, most have the empirical formula Cm(H2O)n. Compounds obtained from carbohydrates by substitution, etc., are known as carbohydrate derivatives and may contain other elements. Cyclitols are generally not regarded as carbohydrates." [] subset: 3_STAR synonym: "a carbohydrate" RELATED [UniProt] synonym: "carbohidrato" RELATED [IUPAC] synonym: "carbohidratos" RELATED [IUPAC] synonym: "carbohydrate" EXACT IUPAC_NAME [IUPAC] synonym: "carbohydrates" EXACT IUPAC_NAME [IUPAC] synonym: "glucide" RELATED [ChEBI] synonym: "glucides" RELATED [ChEBI] synonym: "glucido" RELATED [ChEBI] synonym: "glucidos" RELATED [ChEBI] synonym: "hydrates de carbone" RELATED [ChEBI] synonym: "Kohlenhydrat" RELATED [ChEBI] synonym: "Kohlenhydrate" RELATED [ChEBI] synonym: "saccharide" RELATED [IUPAC] synonym: "saccharides" RELATED [IUPAC] synonym: "saccharidum" RELATED [ChEBI] xref: Wikipedia:Carbohydrate is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:166495 name: 4-hydroxy-3-methylacetophenone namespace: chebi_ontology def: "A monohydroxyacetophenone that is acetophenone carrying methyl and hydroxy groups at positions 3 and 4, respectively." [] subset: 3_STAR synonym: "1-(3-methyl-4-hydroxyphenyl)ethanone" RELATED [ChEBI] synonym: "1-(4-hydroxy-3-methyl-phenyl)ethanone" RELATED [PDBeChem] synonym: "1-(4-hydroxy-3-methylphenyl)ethan-1-one" RELATED [IUPAC] synonym: "1-(4-hydroxy-3-methylphenyl)ethanone" EXACT IUPAC_NAME [IUPAC] synonym: "2-methyl-4-acetylphenol" RELATED [ChEBI] synonym: "3'-methyl-4'-hydroxyacetophenone" RELATED [ChEBI] synonym: "4'-hydroxy-3'-methylacetophenone" RELATED [ChEBI] synonym: "4-acetyl-2-methylphenol" RELATED [ChEBI] xref: CAS:876-02-8 {source="ChemIDplus"} xref: CAS:876-02-8 {source="NIST Chemistry WebBook"} xref: Chemspider:63323 xref: HMDB:HMDB0059824 xref: PDBeChem:YTP xref: PMID:16043043 {source="Europe PMC"} xref: PMID:24380282 {source="Europe PMC"} xref: PMID:32731414 {source="Europe PMC"} xref: PMID:35644430 {source="Europe PMC"} xref: Reaxys:2041839 {source="Reaxys"} is_a: CHEBI:33853 ! phenols property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H10O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H10O2/c1-6-5-8(7(2)10)3-4-9(6)11/h3-5,11H,1-2H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LXBHHIZIQVZGFN-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "150.177" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "150.06808" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(=O)C1=CC(C)=C(O)C=C1" xsd:string [Term] id: CHEBI:16668 name: hypotaurine namespace: chebi_ontology alt_id: CHEBI:14429 alt_id: CHEBI:24760 alt_id: CHEBI:5839 def: "An aminosulfinic acid comprising ethylamine having the sulfo group at the 2-position." [] subset: 3_STAR synonym: "2-Aminoethanesulfinic acid" RELATED [KEGG_COMPOUND] synonym: "2-aminoethanesulfinic acid" EXACT IUPAC_NAME [IUPAC] synonym: "Hypotaurine" EXACT [KEGG_COMPOUND] xref: CAS:300-84-5 {source="KEGG COMPOUND"} xref: CAS:300-84-5 {source="ChemIDplus"} xref: HMDB:HMDB0000965 xref: KEGG:C00519 xref: MetaCyc:HYPOTAURINE xref: PMID:22735334 {source="Europe PMC"} xref: Reaxys:1743127 {source="Reaxys"} xref: Wikipedia:Hypotaurine is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C2H7NO2S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C2H7NO2S/c3-1-2-6(4)5/h1-3H2,(H,4,5)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VVIUBCNYACGLLV-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "109.14852" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "109.01975" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NCCS(O)=O" xsd:string [Term] id: CHEBI:16675 name: quinolinic acid namespace: chebi_ontology alt_id: CHEBI:26418 alt_id: CHEBI:44529 alt_id: CHEBI:8663 def: "A pyridinedicarboxylic acid that is pyridine substituted by carboxy groups at positions 2 and 3. It is a metabolite of tryptophan." [] subset: 3_STAR synonym: "2,3-Pyridinedicarboxylic acid" RELATED [KEGG_COMPOUND] synonym: "Pyridine-2,3-dicarboxylate" RELATED [KEGG_COMPOUND] synonym: "pyridine-2,3-dicarboxylic acid" EXACT IUPAC_NAME [IUPAC] synonym: "QUINOLINIC ACID" EXACT [PDBeChem] synonym: "Quinolinic acid" EXACT [KEGG_COMPOUND] xref: Beilstein:137110 {source="Beilstein"} xref: CAS:89-00-9 {source="ChemIDplus"} xref: CAS:89-00-9 {source="KEGG COMPOUND"} xref: DrugBank:DB01796 xref: Gmelin:201344 {source="Gmelin"} xref: HMDB:HMDB0000232 xref: KEGG:C03722 xref: KNApSAcK:C00007381 xref: PDBeChem:NTM xref: PMID:11226705 {source="Europe PMC"} xref: PMID:11462760 {source="Europe PMC"} xref: PMID:16008534 {source="Europe PMC"} xref: PMID:8724297 {source="Europe PMC"} xref: Reaxys:137110 {source="Reaxys"} xref: Wikipedia:Quinolinic_acid is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H5NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H5NO4/c9-6(10)4-2-1-3-8-5(4)7(11)12/h1-3H,(H,9,10)(H,11,12)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GJAWHXHKYYXBSV-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "167.11890" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "167.02186" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)c1cccnc1C(O)=O" xsd:string [Term] id: CHEBI:16680 name: S-adenosyl-L-homocysteine namespace: chebi_ontology alt_id: CHEBI:12741 alt_id: CHEBI:12759 alt_id: CHEBI:12761 alt_id: CHEBI:22034 alt_id: CHEBI:45495 alt_id: CHEBI:8945 def: "An organic sulfide that is the S-adenosyl derivative of L-homocysteine." [] subset: 3_STAR synonym: "(2S)-2-amino-4-({[(2S,3S,4R,5R)-5-(6-amino-9H-purin-9-yl)-3,4-dihydroxytetrahydrofuran-2-yl]methyl}sulfanyl)butanoic acid" RELATED [PDBeChem] synonym: "2-S-adenosyl-L-homocysteine" RELATED [HMDB] synonym: "Adenosyl-L-homocysteine" RELATED [HMDB] synonym: "adenosylhomocysteine" RELATED [MetaCyc] synonym: "AdoHcy" RELATED [ChEBI] synonym: "S-(5'-adenosyl)-L-homocysteine" RELATED [HMDB] synonym: "S-(5'-adenosyl)-L-homocysteine" RELATED [ChEBI] synonym: "S-(5'-deoxyadenosin-5'-yl)-L-homocysteine" EXACT IUPAC_NAME [IUPAC] synonym: "S-[1-(adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl]-L-homocysteine" RELATED [IUPAC] synonym: "S-ADENOSYL-L-HOMOCYSTEINE" EXACT [PDBeChem] synonym: "S-Adenosyl-L-homocysteine" EXACT [KEGG_COMPOUND] synonym: "S-Adenosylhomocysteine" RELATED [KEGG_COMPOUND] synonym: "SAH" RELATED [MetaCyc] xref: Beilstein:99188 {source="Beilstein"} xref: CAS:979-92-0 {source="KEGG COMPOUND"} xref: CAS:979-92-0 {source="ChemIDplus"} xref: DrugBank:DB01752 xref: Gmelin:692100 {source="Gmelin"} xref: HMDB:HMDB0000939 xref: KEGG:C00021 xref: KNApSAcK:C00007230 xref: MetaCyc:ADENOSYL-HOMO-CYS xref: PDBeChem:SAH xref: PMID:11700066 {source="Europe PMC"} xref: PMID:11746687 {source="Europe PMC"} xref: PMID:11961214 {source="Europe PMC"} xref: PMID:11997462 {source="Europe PMC"} xref: PMID:12767735 {source="Europe PMC"} xref: PMID:15026045 {source="Europe PMC"} xref: PMID:15057524 {source="Europe PMC"} xref: PMID:15542683 {source="Europe PMC"} xref: PMID:15645450 {source="Europe PMC"} xref: PMID:16109423 {source="Europe PMC"} xref: PMID:16197293 {source="Europe PMC"} xref: PMID:16197315 {source="Europe PMC"} xref: PMID:16253211 {source="Europe PMC"} xref: PMID:16423634 {source="Europe PMC"} xref: PMID:16519522 {source="Europe PMC"} xref: PMID:17044778 {source="Europe PMC"} xref: PMID:17172447 {source="Europe PMC"} xref: PMID:17300772 {source="Europe PMC"} xref: PMID:17439666 {source="Europe PMC"} xref: PMID:17726531 {source="Europe PMC"} xref: PMID:18976670 {source="Europe PMC"} xref: PMID:19249293 {source="Europe PMC"} xref: PMID:19357721 {source="Europe PMC"} xref: PMID:21837278 {source="Europe PMC"} xref: PMID:22225784 {source="Europe PMC"} xref: PMID:22455498 {source="Europe PMC"} xref: PMID:24145794 {source="Europe PMC"} xref: Reaxys:99188 {source="Reaxys"} xref: Wikipedia:S-Adenosyl-L-homocysteine is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C14H20N6O5S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C14H20N6O5S/c15-6(14(23)24)1-2-26-3-7-9(21)10(22)13(25-7)20-5-19-8-11(16)17-4-18-12(8)20/h4-7,9-10,13,21-22H,1-3,15H2,(H,23,24)(H2,16,17,18)/t6-,7+,9+,10+,13+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ZJUKTBDSGOFHSH-WFMPWKQPSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "384.41204" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "384.12159" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "N[C@@H](CCSC[C@H]1O[C@H]([C@H](O)[C@@H]1O)n1cnc2c(N)ncnc12)C(O)=O" xsd:string [Term] id: CHEBI:16682 name: N-acetyl-beta-alanine namespace: chebi_ontology alt_id: CHEBI:12449 alt_id: CHEBI:21599 alt_id: CHEBI:7186 def: "The N-acetyl derivative of beta-alanine." [] subset: 3_STAR synonym: "3-(acetylamino)propanoic acid" RELATED [IUPAC] synonym: "3-acetamidopropanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "N-Acetyl-beta-alanine" EXACT [KEGG_COMPOUND] xref: Beilstein:1704093 {source="Beilstein"} xref: CAS:3025-95-4 {source="ChemIDplus"} xref: CAS:3025-95-4 {source="KEGG COMPOUND"} xref: Gmelin:1317687 {source="Gmelin"} xref: KEGG:C01073 xref: MetaCyc:CPD-580 xref: Reaxys:1704093 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H9NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H9NO3/c1-4(7)6-3-2-5(8)9/h2-3H2,1H3,(H,6,7)(H,8,9)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LJLLAWRMBZNPMO-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "131.12990" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "131.05824" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(=O)NCCC(O)=O" xsd:string [Term] id: CHEBI:16688 name: ecdysone namespace: chebi_ontology alt_id: CHEBI:14205 alt_id: CHEBI:23889 alt_id: CHEBI:4741 def: "A 6-oxo steroid that is 5beta-cholest-7-en-6-one substituted by hydroxy groups at positions 2, 3, 14, 22 and 25 respectively (the 2beta, 3beta, 22R stereoisomer). It is a steroid prohormone of the major insect moulting hormone 20-hydroxyecdysone." [] subset: 3_STAR synonym: "(22R)-2beta,3beta,14,22,25-pentahydroxy-5beta-cholest-7-en-6-one" RELATED [IUPAC] synonym: "(22R)-2beta,3beta,14alpha,22,25-pentahydroxy-5beta-cholest-7-en-6-one" RELATED [ChEBI] synonym: "(2beta,3beta,5beta,22R)-2,3,14,22,25-pentahydroxycholest-7-en-6-one" EXACT IUPAC_NAME [IUPAC] synonym: "Ecdysone" EXACT [KEGG_COMPOUND] synonym: "ecdysone" EXACT [UniProt] xref: CAS:3604-87-3 {source="KEGG COMPOUND"} xref: KEGG:C00477 xref: KNApSAcK:C00003651 xref: LIPID_MAPS_instance:LMST01010210 {source="LIPID MAPS"} xref: MeSH:D004440 xref: PMID:19342482 {source="Europe PMC"} xref: PMID:22310011 {source="Europe PMC"} xref: PMID:22828514 {source="Europe PMC"} xref: PMID:23017214 {source="Europe PMC"} xref: PMID:23072462 {source="Europe PMC"} xref: Reaxys:2422986 {source="Reaxys"} xref: Wikipedia:Ecdysone is_a: CHEBI:15889 ! sterol relationship: has_role EFO:0001824 ! hormone role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C27H44O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C27H44O6/c1-15(20(28)8-9-24(2,3)32)16-7-11-27(33)18-12-21(29)19-13-22(30)23(31)14-25(19,4)17(18)6-10-26(16,27)5/h12,15-17,19-20,22-23,28,30-33H,6-11,13-14H2,1-5H3/t15-,16+,17-,19-,20+,22+,23-,25+,26+,27+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UPEZCKBFRMILAV-JMZLNJERSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "464.63466" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "464.31379" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]1(CC[C@@]2(O)C3=CC(=O)[C@]4([H])C[C@@H](O)[C@@H](O)C[C@]4(C)[C@@]3([H])CC[C@]12C)[C@H](C)[C@H](O)CCC(C)(C)O" xsd:string [Term] id: CHEBI:16704 name: uridine namespace: chebi_ontology alt_id: CHEBI:15296 alt_id: CHEBI:27227 alt_id: CHEBI:46386 alt_id: CHEBI:46391 alt_id: CHEBI:46460 alt_id: CHEBI:9893 def: "A ribonucleoside composed of a molecule of uracil attached to a ribofuranose moiety via a beta-N(1)-glycosidic bond." [] subset: 3_STAR synonym: "1-beta-D-ribofuranosylpyrimidine-2,4(1H,3H)-dione" RELATED [ChEBI] synonym: "1-beta-D-ribofuranosyluracil" RELATED [HMDB] synonym: "beta-Uridine" RELATED [HMDB] synonym: "u" RELATED [ChEBI] synonym: "Urd" RELATED [CBN] synonym: "Uridin" RELATED [ChemIDplus] synonym: "URIDINE" EXACT [PDBeChem] synonym: "Uridine" EXACT [KEGG_COMPOUND] synonym: "uridine" EXACT IUPAC_NAME [IUPAC] synonym: "uridine" EXACT [UniProt] xref: Beilstein:754904 {source="Beilstein"} xref: CAS:58-96-8 {source="ChemIDplus"} xref: CAS:58-96-8 {source="KEGG COMPOUND"} xref: DrugBank:DB02745 xref: ECMDB:ECMDB00296 xref: Gmelin:397474 {source="Gmelin"} xref: HMDB:HMDB0000296 xref: KEGG:C00299 xref: KNApSAcK:C00019674 xref: MetaCyc:URIDINE xref: PDBeChem:URI xref: PMID:12084455 {source="Europe PMC"} xref: PMID:15621516 {source="Europe PMC"} xref: PMID:16839635 {source="Europe PMC"} xref: PMID:17190852 {source="Europe PMC"} xref: PMID:22392515 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: Reaxys:754904 {source="Reaxys"} xref: Wikipedia:Uridine xref: YMDB:YMDB00127 is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H12N2O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H12N2O6/c12-3-4-6(14)7(15)8(17-4)11-2-1-5(13)10-9(11)16/h1-2,4,6-8,12,14-15H,3H2,(H,10,13,16)/t4-,6-,7-,8-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DRTQHJPVMGBUCF-XVFCMESISA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "244.20146" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "244.06954" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC[C@H]1O[C@H]([C@H](O)[C@@H]1O)n1ccc(=O)[nH]c1=O" xsd:string [Term] id: CHEBI:16708 name: adenine namespace: chebi_ontology alt_id: CHEBI:13733 alt_id: CHEBI:22236 alt_id: CHEBI:2470 alt_id: CHEBI:40579 def: "The parent compound of the 6-aminopurines, composed of a purine having an amino group at C-6." [] subset: 3_STAR synonym: "6-Aminopurine" RELATED [KEGG_COMPOUND] synonym: "9H-purin-6-amine" EXACT IUPAC_NAME [IUPAC] synonym: "A" RELATED [ChEBI] synonym: "Ade" RELATED [CBN] synonym: "Adenin" RELATED [NIST_Chemistry_WebBook] synonym: "ADENINE" EXACT [PDBeChem] synonym: "Adenine" EXACT [KEGG_COMPOUND] synonym: "adenine" EXACT [UniProt] xref: Beilstein:608603 {source="Beilstein"} xref: CAS:73-24-5 {source="KEGG COMPOUND"} xref: CAS:73-24-5 {source="ChemIDplus"} xref: CAS:73-24-5 {source="NIST Chemistry WebBook"} xref: Drug_Central:89 {source="DrugCentral"} xref: DrugBank:DB00173 xref: Gmelin:3903 {source="Gmelin"} xref: HMDB:HMDB0000034 xref: KEGG:C00147 xref: KEGG:D00034 xref: KNApSAcK:C00001490 xref: MetaCyc:ADENINE xref: PDBeChem:ADE xref: PMID:11985597 {source="Europe PMC"} xref: PMID:12829005 {source="Europe PMC"} xref: PMID:12951489 {source="Europe PMC"} xref: PMID:15063338 {source="Europe PMC"} xref: PMID:15715490 {source="Europe PMC"} xref: PMID:17439666 {source="Europe PMC"} xref: PMID:8070089 {source="Europe PMC"} xref: Reaxys:608603 {source="Reaxys"} xref: Wikipedia:Adenine is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H5N5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H5N5/c6-4-3-5(9-1-7-3)10-2-8-4/h1-2H,(H3,6,7,8,9,10)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GFFGJBXGBJISGV-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "135.12690" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "135.05450" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Nc1ncnc2[nH]cnc12" xsd:string [Term] id: CHEBI:16716 name: benzene namespace: chebi_ontology alt_id: CHEBI:13876 alt_id: CHEBI:22703 alt_id: CHEBI:3025 alt_id: CHEBI:41187 def: "A six-carbon aromatic annulene in which each carbon atom donates one of its two 2p electrons into a delocalised pi system. A toxic, flammable liquid byproduct of coal distillation, it is used as an industrial solvent. Benzene is a carcinogen that also damages bone marrow and the central nervous system." [] subset: 3_STAR synonym: "[6]annulene" RELATED [NIST_Chemistry_WebBook] synonym: "Benzen" RELATED [IUPAC] synonym: "BENZENE" EXACT [PDBeChem] synonym: "Benzene" EXACT [KEGG_COMPOUND] synonym: "benzene" EXACT IUPAC_NAME [IUPAC] synonym: "benzene" EXACT [UniProt] synonym: "benzene" EXACT [ChEBI] synonym: "Benzine" RELATED [UM-BBD] synonym: "Benzol" RELATED [ChemIDplus] synonym: "benzole" RELATED [NIST_Chemistry_WebBook] synonym: "Bicarburet of hydrogen" RELATED [ChemIDplus] synonym: "Coal naphtha" RELATED [ChemIDplus] synonym: "cyclohexatriene" RELATED [UM-BBD] synonym: "Mineral naphtha" RELATED [ChemIDplus] synonym: "Phene" RELATED [ChemIDplus] synonym: "phenyl hydride" RELATED [UM-BBD] synonym: "Pyrobenzol" RELATED [ChemIDplus] synonym: "Pyrobenzole" RELATED [ChemIDplus] xref: Beilstein:969212 {source="Beilstein"} xref: CAS:71-43-2 {source="ChemIDplus"} xref: CAS:71-43-2 {source="NIST Chemistry WebBook"} xref: CAS:71-43-2 {source="KEGG COMPOUND"} xref: Gmelin:1671 {source="Gmelin"} xref: HMDB:HMDB0001505 xref: KEGG:C01407 xref: PDBeChem:BNZ xref: PMID:11684179 {source="Europe PMC"} xref: PMID:11993966 {source="Europe PMC"} xref: PMID:12857942 {source="Europe PMC"} xref: PMID:14677922 {source="Europe PMC"} xref: PMID:15468289 {source="Europe PMC"} xref: PMID:15935818 {source="Europe PMC"} xref: PMID:16161967 {source="Europe PMC"} xref: PMID:17373369 {source="Europe PMC"} xref: PMID:18072742 {source="Europe PMC"} xref: PMID:18407866 {source="Europe PMC"} xref: PMID:18409691 {source="Europe PMC"} xref: PMID:18836923 {source="Europe PMC"} xref: PMID:19228219 {source="Europe PMC"} xref: PMID:21325737 {source="Europe PMC"} xref: PMID:23088855 {source="Europe PMC"} xref: PMID:23222815 {source="Europe PMC"} xref: PMID:23534829 {source="Europe PMC"} xref: PMID:6353911 {source="Europe PMC"} xref: PMID:8124204 {source="Europe PMC"} xref: Reaxys:969212 {source="Reaxys"} xref: UM-BBD_compID:c0142 {source="UM-BBD"} xref: Wikipedia:Benzene is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H6/c1-2-4-6-5-3-1/h1-6H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UHOVQNZJYSORNB-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "78.11184" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "78.04695" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "c1ccccc1" xsd:string [Term] id: CHEBI:16731 name: (E)-cinnamaldehyde namespace: chebi_ontology alt_id: CHEBI:13994 alt_id: CHEBI:181858 alt_id: CHEBI:23244 alt_id: CHEBI:3709 def: "The E (trans) stereoisomer of cinnamaldehyde, the parent of the class of cinnamaldehydes." [] subset: 3_STAR synonym: "(3E)-3-phenylprop-2-enal" EXACT IUPAC_NAME [IUPAC] synonym: "(E)-3-Phenyl-2-propenal" RELATED [ChemIDplus] synonym: "(E)-3-Phenyl-propenal" RELATED [ChEMBL] synonym: "(E)-3-Phenylpropenal" RELATED [ChemIDplus] synonym: "(E)-Cinnamaldehyde" EXACT [ChemIDplus] synonym: "(E)-cinnamaldehyde" EXACT [UniProt] synonym: "(E)-Cinnamic aldehyde" RELATED [NIST_Chemistry_WebBook] synonym: "(E)-phenylvinyl aldehyde" RELATED [ChEMBL] synonym: "3-phenylacrylaldehyde" RELATED [ChEBI] synonym: "Cinnamaldehyde" RELATED [KEGG_COMPOUND] synonym: "trans-Cinnamic aldehyde" RELATED [ChemIDplus] xref: Beilstein:1071571 {source="ChemIDplus"} xref: BPDB:1069 xref: CAS:14371-10-9 {source="ChemIDplus"} xref: CAS:14371-10-9 {source="NIST Chemistry WebBook"} xref: HMDB:HMDB0003441 xref: KEGG:C00903 xref: KNApSAcK:C00002725 xref: KNApSAcK:C00035187 xref: NCIt:C76703 xref: PMID:11975643 {source="Europe PMC"} xref: PMID:17140783 {source="Europe PMC"} xref: PMID:17662960 {source="Europe PMC"} xref: PMID:18218683 {source="Europe PMC"} xref: PMID:19845671 {source="Europe PMC"} xref: PMID:20431333 {source="Europe PMC"} xref: PMID:20955755 {source="Europe PMC"} xref: PMID:21266172 {source="Europe PMC"} xref: PMID:21388814 {source="Europe PMC"} xref: PMID:21394803 {source="Europe PMC"} xref: PMID:21466812 {source="Europe PMC"} xref: PMID:21469739 {source="Europe PMC"} xref: PMID:21517069 {source="Europe PMC"} xref: PMID:21603596 {source="Europe PMC"} xref: PMID:21708228 {source="Europe PMC"} xref: PMID:21767279 {source="Europe PMC"} xref: PMID:21788726 {source="Europe PMC"} xref: PMID:29079364 {source="Europe PMC"} xref: Reaxys:1071571 {source="Reaxys"} xref: SNOMEDCT:255647002 xref: SNOMEDCT:411358009 xref: Wikipedia:Cinnamaldehyde is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:35718 ! antifungal agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H8O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H8O/c10-8-4-7-9-5-2-1-3-6-9/h1-8H/b7-4+" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KJPRLNWUNMBNBZ-QPJJXVBHSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "132.15920" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "132.05751" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O=C\\C=C\\c1ccccc1" xsd:string [Term] id: CHEBI:16734 name: N-acetyl-D-tryptophan namespace: chebi_ontology alt_id: CHEBI:12460 alt_id: CHEBI:21543 alt_id: CHEBI:7146 def: "The N-acetyl derivative of D-tryptophan." [] subset: 3_STAR synonym: "(2R)-2-acetamido-3-(1H-indol-3-yl)propanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "N-Acetyl-D-tryptophan" EXACT [KEGG_COMPOUND] synonym: "N-acetyl-D-tryptophan" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:89477 {source="Beilstein"} xref: CAS:2280-01-5 {source="ChemIDplus"} xref: CAS:2280-01-5 {source="KEGG COMPOUND"} xref: KEGG:C03137 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C13H14N2O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C13H14N2O3/c1-8(16)15-12(13(17)18)6-9-7-14-11-5-3-2-4-10(9)11/h2-5,7,12,14H,6H2,1H3,(H,15,16)(H,17,18)/t12-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DZTHIGRZJZPRDV-GFCCVEGCSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "246.26194" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "246.10044" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(=O)N[C@H](Cc1c[nH]c2ccccc12)C(O)=O" xsd:string [Term] id: CHEBI:16737 name: creatinine namespace: chebi_ontology alt_id: CHEBI:14029 alt_id: CHEBI:23406 alt_id: CHEBI:3910 def: "A lactam obtained by formal cyclocondensation of creatine. It is a metabolite of creatine." [] subset: 3_STAR synonym: "1-Methylglycocyamidine" RELATED [KEGG_COMPOUND] synonym: "1-methylglycocyamidine" RELATED [ChEBI] synonym: "1-Methylhydantoin-2-imide" RELATED [HMDB] synonym: "2-amino-1,5-dihydro-1-methyl-4H-Imidazol-4-one" RELATED [HMDB] synonym: "2-Amino-1-methylimidazolin-4-one" RELATED [HMDB] synonym: "2-imino-1-methylimidazolidin-4-one" EXACT IUPAC_NAME [IUPAC] synonym: "Creatine anhydride" RELATED [HMDB] synonym: "creatinina" RELATED [ChEBI] synonym: "Creatinine" EXACT [KEGG_COMPOUND] synonym: "creatinine" EXACT [ChEBI] synonym: "creatinine" EXACT [UniProt] synonym: "Kreatinin" RELATED [ChEBI] xref: CAS:60-27-5 {source="ChemIDplus"} xref: CAS:60-27-5 {source="KEGG COMPOUND"} xref: CAS:60-27-5 {source="NIST Chemistry WebBook"} xref: ChemIDplus:60-27-5 xref: HMDB:HMDB0000562 xref: KEGG COMPOUND:60-27-5 xref: KEGG COMPOUND:C00791 xref: KEGG:C00791 xref: KEGG:D03600 xref: MeSH:D003404 xref: MetaCyc:CREATININE xref: NCIt:C399 xref: NIST Chemistry WebBook:60-27-5 xref: PMID:11256540 {source="Europe PMC"} xref: PMID:11981083 {source="Europe PMC"} xref: PMID:17190852 {source="Europe PMC"} xref: PMID:17422601 {source="Europe PMC"} xref: PMID:18182718 {source="Europe PMC"} xref: PMID:19236048 {source="Europe PMC"} xref: PMID:19715855 {source="Europe PMC"} xref: PMID:19968328 {source="Europe PMC"} xref: PMID:21775764 {source="Europe PMC"} xref: PMID:22047975 {source="Europe PMC"} xref: PMID:22121923 {source="Europe PMC"} xref: PMID:22166252 {source="Europe PMC"} xref: PMID:22207347 {source="Europe PMC"} xref: PMID:22212624 {source="Europe PMC"} xref: PMID:22223530 {source="Europe PMC"} xref: PMID:22331238 {source="Europe PMC"} xref: PMID:22338083 {source="Europe PMC"} xref: PMID:22349552 {source="Europe PMC"} xref: PMID:22390548 {source="Europe PMC"} xref: PMID:22432114 {source="Europe PMC"} xref: PMID:22441184 {source="Europe PMC"} xref: PMID:22459582 {source="Europe PMC"} xref: PMID:22498455 {source="Europe PMC"} xref: Reaxys:112064 {source="Reaxys"} xref: SNOMEDCT:15373003 xref: Wikipedia:Creatinine is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H7N3O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H7N3O/c1-7-2-3(8)6-4(7)5/h2H2,1H3,(H2,5,6,8)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DDRJAANPRJIHGJ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "113.11800" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "113.05891" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN1CC(=O)NC1=N" xsd:string [Term] id: CHEBI:16738 name: 2,4-dichlorophenol namespace: chebi_ontology alt_id: CHEBI:11440 alt_id: CHEBI:19350 alt_id: CHEBI:909 def: "A dichlorophenol that is phenol carrying chloro substituents at positions 2 and 4." [] subset: 3_STAR synonym: "2,4-Dichlorophenol" EXACT [KEGG_COMPOUND] synonym: "2,4-dichlorophenol" EXACT IUPAC_NAME [IUPAC] synonym: "2,4-dichlorophenol" EXACT [UniProt] xref: Beilstein:742467 {source="Beilstein"} xref: CAS:120-83-2 {source="NIST Chemistry WebBook"} xref: CAS:120-83-2 {source="ChemIDplus"} xref: CAS:120-83-2 {source="KEGG COMPOUND"} xref: Gmelin:261170 {source="Gmelin"} xref: HMDB:HMDB0004811 xref: KEGG:C02625 xref: MetaCyc:24-DICHLOROPHENOL xref: PMID:10633543 {source="Europe PMC"} xref: Reaxys:742467 {source="Reaxys"} xref: UM-BBD_compID:c0289 {source="UM-BBD"} xref: Wikipedia:2\,4-Dichlorophenol is_a: CHEBI:33853 ! phenols property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H4Cl2O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H4Cl2O/c7-4-1-2-6(9)5(8)3-4/h1-3,9H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HFZWRUODUSTPEG-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "163.00076" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "161.96392" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Oc1ccc(Cl)cc1Cl" xsd:string [Term] id: CHEBI:16742 name: orotic acid namespace: chebi_ontology alt_id: CHEBI:25720 alt_id: CHEBI:44781 alt_id: CHEBI:7787 def: "A pyrimidinemonocarboxylic acid that is uracil bearing a carboxy substituent at position C-6." [] subset: 3_STAR synonym: "2,6-dioxo-1,2,3,6-tetrahydropyrimidine-4-carboxylic acid" EXACT IUPAC_NAME [IUPAC] synonym: "OROTIC ACID" EXACT [PDBeChem] synonym: "Orotic acid" EXACT [KEGG_COMPOUND] synonym: "Orotsaeure" RELATED [ChEBI] synonym: "Uracil-6-carboxylic acid" RELATED [KEGG_COMPOUND] xref: Beilstein:383901 {source="Beilstein"} xref: CAS:65-86-1 {source="NIST Chemistry WebBook"} xref: CAS:65-86-1 {source="ChemIDplus"} xref: CAS:65-86-1 {source="KEGG COMPOUND"} xref: Drug_Central:3402 {source="DrugCentral"} xref: DrugBank:DB02262 xref: Gmelin:101990 {source="Gmelin"} xref: HMDB:HMDB0000226 xref: KEGG:C00295 xref: KEGG:D00055 xref: KNApSAcK:C00019689 xref: MetaCyc:OROTATE xref: PDBeChem:ORO xref: PMID:11059538 {source="Europe PMC"} xref: PMID:22019295 {source="Europe PMC"} xref: PMID:22285839 {source="Europe PMC"} xref: PMID:22307261 {source="Europe PMC"} xref: PMID:22371390 {source="Europe PMC"} xref: PMID:22634191 {source="Europe PMC"} xref: PMID:22707164 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: PMID:22863860 {source="Europe PMC"} xref: PMID:7264771 {source="Europe PMC"} xref: Reaxys:383901 {source="Reaxys"} xref: Wikipedia:Orotic_acid is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H4N2O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H4N2O4/c8-3-1-2(4(9)10)6-5(11)7-3/h1H,(H,9,10)(H2,6,7,8,11)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PXQPEWDEAKTCGB-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "156.09630" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "156.01711" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)c1cc(=O)[nH]c(=O)[nH]1" xsd:string [Term] id: CHEBI:16763 name: 2-oxobutanoate namespace: chebi_ontology alt_id: CHEBI:11636 alt_id: CHEBI:19741 def: "A 2-oxo monocarboxylic acid anion that is the conjugate base of 2-oxobutanoic acid, obtained by deprotonation of the carboxy group." [] subset: 3_STAR synonym: "2-Ketobutanoate" RELATED [HMDB] synonym: "2-ketobutyrate" RELATED [UM-BBD] synonym: "2-oxobutanoate" EXACT [UniProt] synonym: "2-oxobutanoate" EXACT IUPAC_NAME [IUPAC] synonym: "2-Oxobutyrate" RELATED [HMDB] synonym: "alpha-ketobutyrate" RELATED [ChEBI] synonym: "alpha-ketobutyrate" RELATED [UM-BBD] synonym: "alpha-oxobutyrate" RELATED [UM-BBD] xref: Beilstein:3601760 {source="Beilstein"} xref: Gmelin:899148 {source="Gmelin"} xref: HMDB:HMDB0000005 xref: KEGG:C00109 xref: MetaCyc:2-OXOBUTANOATE xref: Reaxys:3601760 {source="Reaxys"} xref: UM-BBD_compID:c0360 {source="UM-BBD"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H5O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H6O3/c1-2-3(5)4(6)7/h2H2,1H3,(H,6,7)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "TYEYBOSBBBHJIV-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "101.08070" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "101.02442" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCC(=O)C([O-])=O" xsd:string [Term] id: CHEBI:167876 name: Hydroxyphenylpyruvic acid namespace: chebi_ontology subset: 2_STAR synonym: "3-hydroxy-2-oxo-3-phenylpropanoic acid" EXACT IUPAC_NAME [SUBMITTER] xref: Chemspider:11596439 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H8O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H8O4/c10-7(8(11)9(12)13)6-4-2-1-3-5-6/h1-5,7,10H,(H,12,13)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ZHLWCBHWYUISFY-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "180.159" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "180.04226" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(C1=CC=CC=C1)C(=O)C(O)=O" xsd:string [Term] id: CHEBI:16794 name: scopolamine namespace: chebi_ontology alt_id: CHEBI:15066 alt_id: CHEBI:26610 alt_id: CHEBI:9056 def: "A tropane alkaloid that is the (S)-tropic acid ester of 6beta,7beta-epoxy-1alphaH,5alphaH-tropan-3alpha-ol." [] subset: 3_STAR synonym: "(-)-Hyoscine" RELATED [KEGG_COMPOUND] synonym: "(-)-hyoscine" RELATED [ChemIDplus] synonym: "(-)-scopolamine" RELATED [ChemIDplus] synonym: "(1R,2R,4S,5S,7S)-9-methyl-3-oxa-9-azatricyclo[3.3.1.0(2,4)]non-7-yl (2S)-3-hydroxy-2-phenylpropanoate" EXACT IUPAC_NAME [IUPAC] synonym: "(1S,3S,5R,6R,7S)-6,7-epoxytropan-3-yl (2S)-3-hydroxy-2-phenylpropanoate" RELATED [ChEBI] synonym: "6,7-Epoxytropine tropate" RELATED [ChemIDplus] synonym: "6-beta,7-beta-Epoxy-3-alpha-tropanyl S-(-)-tropate" RELATED [ChemIDplus] synonym: "alpha-(Hydroxymethyl)benzeneacetic acid 9-methyl-3-oxa-9-azatricyclo(3.3.1.0(2.4))non-7-yl ester" RELATED [ChemIDplus] synonym: "Hyoscine" RELATED [ChemIDplus] synonym: "scopine (-)-tropate" RELATED [ChemIDplus] synonym: "Scopolamine" EXACT [KEGG_COMPOUND] synonym: "scopolamine" EXACT [UniProt] synonym: "Transderm-Scop" RELATED BRAND_NAME [KEGG_DRUG] xref: CAS:51-34-3 {source="KEGG COMPOUND"} xref: CAS:51-34-3 {source="ChemIDplus"} xref: CAS:51-34-3 {source="NIST Chemistry WebBook"} xref: ChEMBL:679689 xref: DrugBank:DB00747 xref: HMDB:HMDB0003573 xref: KEGG COMPOUND:51-34-3 xref: KEGG COMPOUND:C01851 xref: KEGG DRUG:D00138 xref: KEGG:C01851 xref: KEGG:D00138 xref: KNApSAcK:C00002292 xref: MetaCyc:SCOPOLAMINE xref: NCIt:C47712 xref: PMID:11718188 {source="Europe PMC"} xref: PMID:23334071 {source="Europe PMC"} xref: Reaxys:91904 {source="Reaxys"} xref: SNOMEDCT:387409009 xref: SNOMEDCT:72870001 xref: Wikipedia:Scopolamine is_a: CHEBI:24532 ! organic heterocyclic compound is_a: EFO:0004417 ! amide relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C17H21NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C17H21NO4/c1-18-13-7-11(8-14(18)16-15(13)22-16)21-17(20)12(9-19)10-5-3-2-4-6-10/h2-6,11-16,19H,7-9H2,1H3/t11-,12-,13-,14+,15-,16+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "STECJAGHUSJQJN-FWXGHANASA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "303.35290" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "303.14706" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN1[C@H]2C[C@@H](C[C@@H]1[C@H]1O[C@@H]21)OC(=O)[C@H](CO)c1ccccc1" xsd:string [Term] id: CHEBI:16797 name: 1-methylnicotinamide namespace: chebi_ontology alt_id: CHEBI:11267 alt_id: CHEBI:18635 alt_id: CHEBI:646 def: "A pyridinium ion comprising nicotinamide having a methyl group at the 1-position. It is a metabolite of nicotinamide which was initially considered to be biologically inactive but has emerged as an anti-thrombotic and anti-inflammatory agent." [] subset: 3_STAR synonym: "1-methyl nicotinamide" RELATED [ChemIDplus] synonym: "1-Methylnicotinamide" EXACT [KEGG_COMPOUND] synonym: "1-methylnicotinamide" EXACT [UniProt] synonym: "1-methylnicotinamide cation" RELATED [ChEBI] synonym: "3-(aminocarbonyl)-1-methylpyridinium" RELATED [ChemIDplus] synonym: "3-carbamoyl-1-methylpyridin-1-ium" RELATED [HMDB] synonym: "3-carbamoyl-1-methylpyridinium" EXACT IUPAC_NAME [IUPAC] synonym: "N(1)-Methylnicotinamide" RELATED [ChemIDplus] synonym: "N(1)-methylnicotinamide" RELATED [HMDB] synonym: "N-1-methylnicotinamide" RELATED [HMDB] synonym: "Trigonellinamide" RELATED [ChemIDplus] xref: CAS:3106-60-3 {source="ChemIDplus"} xref: Chemspider:444 xref: FooDB:FDB022188 xref: HMDB:HMDB0000699 xref: KEGG:C02918 xref: KNApSAcK:C00052106 xref: MetaCyc:CPD-396 xref: PDBeChem:8GC xref: PMID:10644906 {source="Europe PMC"} xref: PMID:11199218 {source="Europe PMC"} xref: PMID:11952169 {source="Europe PMC"} xref: PMID:12829005 {source="Europe PMC"} xref: PMID:12856834 {source="Europe PMC"} xref: PMID:145178 {source="Europe PMC"} xref: PMID:160917 {source="Europe PMC"} xref: PMID:16197374 {source="Europe PMC"} xref: PMID:17641676 {source="Europe PMC"} xref: PMID:17826027 {source="Europe PMC"} xref: PMID:18373238 {source="Europe PMC"} xref: PMID:18953089 {source="Europe PMC"} xref: PMID:19307696 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: PMID:22932811 {source="Europe PMC"} xref: PMID:25129409 {source="Europe PMC"} xref: PMID:25552403 {source="Europe PMC"} xref: PMID:26066674 {source="Europe PMC"} xref: PMID:26115505 {source="Europe PMC"} xref: PMID:28443021 {source="Europe PMC"} xref: PMID:28720493 {source="Europe PMC"} xref: PMID:33317539 {source="Europe PMC"} xref: PMID:33442746 {source="Europe PMC"} xref: PMID:33523930 {source="Europe PMC"} xref: PMID:6215856 {source="Europe PMC"} xref: PMID:6448542 {source="Europe PMC"} xref: Reaxys:3540351 {source="Reaxys"} xref: Wikipedia:1-Methylnicotinamide is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "+1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H9N2O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H8N2O/c1-9-4-2-3-6(5-9)7(8)10/h2-5H,1H3,(H-,8,10)/p+1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LDHMAVIPBRSVRG-UHFFFAOYSA-O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "137.161" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "137.07094" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[N+]1=CC(=CC=C1)C(N)=O" xsd:string [Term] id: CHEBI:16810 name: 2-oxoglutarate(2-) namespace: chebi_ontology alt_id: CHEBI:11638 alt_id: CHEBI:19748 def: "An oxo dicarboxylate obtained by deprotonation of both carboxy groups of 2-oxoglutaric acid." [] subset: 3_STAR synonym: "2-ketoglutarate" RELATED [ChEBI] synonym: "2-oxoglutarate" RELATED [UniProt] synonym: "2-oxopentanedioate" EXACT IUPAC_NAME [IUPAC] synonym: "2-oxopentanedioic acid, ion(2-)" RELATED [ChemIDplus] synonym: "alpha-ketoglutarate" RELATED [ChEBI] xref: Beilstein:3664503 {source="Beilstein"} xref: CAS:64-15-3 {source="ChemIDplus"} xref: Gmelin:602479 {source="Gmelin"} xref: KEGG:C00026 xref: MetaCyc:2-KETOGLUTARATE xref: PMID:11913971 {source="Europe PMC"} xref: PMID:15612731 {source="Europe PMC"} xref: PMID:17190852 {source="Europe PMC"} xref: PMID:19376872 {source="Europe PMC"} xref: PMID:21184277 {source="Europe PMC"} xref: PMID:21196226 {source="Europe PMC"} xref: PMID:21791173 {source="Europe PMC"} xref: PMID:24828042 {source="Europe PMC"} xref: Reaxys:3664503 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H4O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H6O5/c6-3(5(9)10)1-2-4(7)8/h1-2H2,(H,7,8)(H,9,10)/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KPGXRSRHYNQIFN-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "144.08226" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "144.00697" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-]C(=O)CCC(=O)C([O-])=O" xsd:string [Term] id: CHEBI:16811 name: methionine namespace: chebi_ontology alt_id: CHEBI:14590 alt_id: CHEBI:25229 alt_id: CHEBI:6829 def: "A sulfur-containing amino acid that is butyric acid bearing an amino substituent at position 2 and a methylthio substituent at position 4." [] subset: 3_STAR synonym: "2-amino-4-(methylsulfanyl)butanoic acid" RELATED [IUPAC] synonym: "2-amino-4-(methylthio)butanoic acid" RELATED [JCBN] synonym: "2-Amino-4-(methylthio)butyric acid" RELATED [KEGG_COMPOUND] synonym: "alpha-amino-gamma-methylmercaptobutyric acid" RELATED [NIST_Chemistry_WebBook] synonym: "DL-Methionine" RELATED [KEGG_DRUG] synonym: "Hmet" RELATED [IUPAC] synonym: "M" RELATED [ChEBI] synonym: "Met" RELATED [ChEBI] synonym: "Methionin" RELATED [ChEBI] synonym: "Methionine" EXACT [KEGG_COMPOUND] synonym: "methionine" EXACT IUPAC_NAME [IUPAC] synonym: "methionine" EXACT [ChEBI] synonym: "metionina" RELATED [ChEBI] synonym: "Racemethionine" RELATED [KEGG_DRUG] xref: Beilstein:636185 {source="Beilstein"} xref: CAS:59-51-8 {source="NIST Chemistry WebBook"} xref: CAS:59-51-8 {source="ChemIDplus"} xref: CAS:59-51-8 {source="KEGG COMPOUND"} xref: ChemIDplus:59-51-8 xref: CiteXplore:16702333 xref: Gmelin:3117 {source="Gmelin"} xref: KEGG COMPOUND:C01733 xref: KEGG DRUG:D04983 xref: KEGG:C01733 xref: KEGG:D04983 xref: MeSH:D008715 xref: NCIt:C29600 xref: NIST Chemistry WebBook:59-51-8 xref: PMID:16702333 {source="Europe PMC"} xref: PMID:22264337 {source="Europe PMC"} xref: PMID:2543976 {source="Europe PMC"} xref: Reaxys:636185 {source="Reaxys"} xref: SNOMEDCT:70288006 xref: UM-BBD:c0094 xref: UM-BBD_compID:c0094 {source="UM-BBD"} xref: Wikipedia:Methionine is_a: CHEBI:33709 ! amino acid relationship: has_role CHEBI:25212 ! metabolite property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H11NO2S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H11NO2S/c1-9-3-2-4(6)5(7)8/h4H,2-3,6H2,1H3,(H,7,8)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FFEARJCKVFRZRR-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "149.21238" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "149.05105" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CSCCC(N)C(O)=O" xsd:string [Term] id: CHEBI:16814 name: dehydroepiandrosterone sulfate namespace: chebi_ontology alt_id: CHEBI:11912 alt_id: CHEBI:1724 alt_id: CHEBI:20247 alt_id: CHEBI:61003 def: "A steroid sulfate that is the 3-sulfooxy derivative of dehydroepiandrosterone." [] subset: 3_STAR synonym: "(3-beta)-3-(Sulfooxy)androst-5-en-17-one" RELATED [ChemIDplus] synonym: "17-Ketoandrost-5-en-3beta-yl sulfate" RELATED [ChemIDplus] synonym: "17-oxoandrost-5-en-3beta-yl hydrogen sulfate" EXACT IUPAC_NAME [IUPAC] synonym: "17-oxoandrost-5-en-3beta-yl hydrogen sulphate" RELATED [ChEBI] synonym: "3-O-Sulfodehydroepiandrosterone" RELATED [ChemIDplus] synonym: "3beta-Hydroxyandrost-5-en-17-one 3-sulfate" RELATED [KEGG_COMPOUND] synonym: "3beta-hydroxyandrost-5-en-17-one 3-sulfate" RELATED [ChEBI] synonym: "Androst-5-en-17-on-3beta-yl sulfuric acid" RELATED [ChemIDplus] synonym: "Dehydroepiandrosterone 3-sulfate" RELATED [ChemIDplus] synonym: "Dehydroepiandrosterone monosulfate" RELATED [ChemIDplus] synonym: "Dehydroepiandrosterone sulfate" EXACT [KEGG_COMPOUND] synonym: "Dehydroepiandrosterone sulphate" RELATED [ChemIDplus] synonym: "Dehydroisoandrosterone sulfate" RELATED [ChemIDplus] synonym: "Dehydroisoandrosterone-3-sulfate" RELATED [ChemIDplus] synonym: "DHEA sulfate" RELATED [ChemIDplus] synonym: "DHEA sulfate" RELATED [KEGG_COMPOUND] synonym: "DHEA-S" RELATED [ChEBI] synonym: "DHEAS" RELATED [ChemIDplus] synonym: "Prasterone sulfate" RELATED [ChemIDplus] xref: CAS:651-48-9 {source="ChemIDplus"} xref: CAS:651-48-9 {source="KEGG COMPOUND"} xref: ChemIDplus:651-48-9 xref: CiteXplore:18307294 xref: CiteXplore:9661815 xref: Drug_Central:4049 {source="DrugCentral"} xref: HMDB:HMDB0001032 xref: KEGG COMPOUND:C04555 xref: KEGG:C04555 xref: LIPID_MAPS_instance:LMST05020010 {source="LIPID MAPS"} xref: MeSH:D019314 xref: MetaCyc:DEHYDRO-EPIANDROSTERONE-SULFATE xref: PMID:15374110 {source="Europe PMC"} xref: PMID:18307294 {source="Europe PMC"} xref: PMID:20797618 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: PMID:9661815 {source="Europe PMC"} xref: Reaxys:2227078 {source="Reaxys"} xref: SNOMEDCT:103044003 xref: Wikipedia:Dehydroepiandrosterone_sulfate is_a: CHEBI:35341 ! steroid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H28O5S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H28O5S/c1-18-9-7-13(24-25(21,22)23)11-12(18)3-4-14-15-5-6-17(20)19(15,2)10-8-16(14)18/h3,13-16H,4-11H2,1-2H3,(H,21,22,23)/t13-,14-,15-,16-,18-,19-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CZWCKYRVOZZJNM-USOAJAOKSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "368.489" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "368.16575" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C1[C@@]2([C@@]([C@@]3(C(C[C@@H](OS(O)(=O)=O)CC3)=C1)C)(CC[C@]4([C@]2(CCC4=O)[H])C)[H])[H]" xsd:string [Term] id: CHEBI:16815 name: enol-phenylpyruvate namespace: chebi_ontology alt_id: CHEBI:12811 alt_id: CHEBI:23912 subset: 3_STAR synonym: "2-hydroxy-3-phenylacrylate" RELATED [ChEBI] synonym: "2-hydroxy-3-phenylprop-2-enoate" EXACT IUPAC_NAME [IUPAC] synonym: "2-Hydroxy-3-phenylpropenoate" RELATED [KEGG_COMPOUND] synonym: "enol-Phenylpyruvate" EXACT [KEGG_COMPOUND] synonym: "enol-phenylpyruvate" EXACT [UniProt] xref: KEGG:C02763 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H7O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H8O3/c10-8(9(11)12)6-7-4-2-1-3-5-7/h1-6,10H,(H,11,12)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DEDGUGJNLNLJSR-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "163.15008" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "163.04007" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=Cc1ccccc1)C([O-])=O" xsd:string [Term] id: CHEBI:16831 name: 3-hydroxy-3-methylglutaric acid namespace: chebi_ontology alt_id: CHEBI:11044 alt_id: CHEBI:1524 alt_id: CHEBI:18746 alt_id: CHEBI:20043 alt_id: CHEBI:391 alt_id: CHEBI:43804 def: "A dicarboxylic acid that is glutaric acid in which one of the two hydrogens at position 3 is substituted by a hydroxy group, while the other is substituted by a methyl group. It has been found to accumulate in urine of patients suffering from HMG-CoA lyase (3-hydroxy-3-methylglutaryl-CoA lyase, EC 4.1.3.4) deficiency. It occurs as a plant metabolite in Crotalaria dura." [] subset: 3_STAR synonym: "(S)-3-Hydroxy-3-methylglutaric acid" RELATED [KEGG_COMPOUND] synonym: "(S)-Meglutol" RELATED [KEGG_COMPOUND] synonym: "3-HYDROXY-3-METHYL-GLUTARIC ACID" RELATED [PDBeChem] synonym: "3-Hydroxy-3-methylpentanedioic acid" RELATED [KEGG_COMPOUND] synonym: "3-hydroxy-3-methylpentanedioic acid" EXACT IUPAC_NAME [IUPAC] synonym: "beta-Hydroxy-beta-methylglutaric acid" RELATED [KEGG_COMPOUND] synonym: "beta-hydroxy-beta-methylglutaric acid" RELATED [ChEBI] synonym: "Dicrotalic acid" RELATED [KEGG_COMPOUND] synonym: "meglutol" RELATED INN [WHO_MedNet] synonym: "meglutol" RELATED INN [ChemIDplus] synonym: "meglutolum" RELATED INN [WHO_MedNet] xref: Beilstein:1769194 {source="Beilstein"} xref: CAS:503-49-1 {source="ChemIDplus"} xref: CAS:503-49-1 {source="KEGG COMPOUND"} xref: Drug_Central:1670 {source="DrugCentral"} xref: DrugBank:DB04377 xref: HMDB:HMDB0000355 xref: KEGG:C03761 xref: KEGG:D04897 xref: KNApSAcK:C00001187 xref: MetaCyc:CPD-547 xref: PDBeChem:MAH xref: PMID:10916782 {source="Europe PMC"} xref: PMID:17941049 {source="Europe PMC"} xref: PMID:3063529 {source="Europe PMC"} xref: PMID:4717513 {source="Europe PMC"} xref: PMID:6083597 {source="Europe PMC"} xref: PMID:9658458 {source="Europe PMC"} xref: Reaxys:1769194 {source="Reaxys"} is_a: EFO:0004416 ! acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H10O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H10O5/c1-6(11,2-4(7)8)3-5(9)10/h11H,2-3H2,1H3,(H,7,8)(H,9,10)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NPOAOTPXWNWTSH-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "162.14060" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "162.05282" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(O)(CC(O)=O)CC(O)=O" xsd:string [Term] id: CHEBI:16842 name: formaldehyde namespace: chebi_ontology alt_id: CHEBI:14274 alt_id: CHEBI:24077 alt_id: CHEBI:337763 alt_id: CHEBI:5142 def: "An aldehyde resulting from the formal oxidation of methanol." [] subset: 3_STAR synonym: "Formaldehyd" RELATED [NIST_Chemistry_WebBook] synonym: "FORMALDEHYDE" EXACT [PDBeChem] synonym: "Formaldehyde" EXACT [KEGG_COMPOUND] synonym: "formaldehyde" EXACT [UniProt] synonym: "formaldehyde" EXACT IUPAC_NAME [IUPAC] synonym: "FORMALIN" RELATED [ChEMBL] synonym: "Formalin" RELATED [KEGG_COMPOUND] synonym: "Methanal" RELATED [KEGG_COMPOUND] synonym: "Methylene oxide" RELATED [KEGG_COMPOUND] synonym: "Oxomethane" RELATED [KEGG_COMPOUND] synonym: "Oxomethylene" RELATED [KEGG_COMPOUND] xref: Beilstein:1209228 {source="Beilstein"} xref: CAS:50-00-0 {source="NIST Chemistry WebBook"} xref: CAS:50-00-0 {source="ChemIDplus"} xref: CAS:50-00-0 {source="KEGG COMPOUND"} xref: Drug_Central:3244 {source="DrugCentral"} xref: DrugBank:DB03843 xref: Gmelin:445 {source="Gmelin"} xref: HMDB:HMDB0001426 xref: KEGG:C00067 xref: KEGG:D00017 xref: MetaCyc:FORMALDEHYDE xref: PDBeChem:FOR xref: PMID:110589 {source="Europe PMC"} xref: PMID:12686735 {source="Europe PMC"} xref: PMID:15091529 {source="Europe PMC"} xref: PMID:16423181 {source="Europe PMC"} xref: PMID:17618393 {source="Europe PMC"} xref: PMID:18837732 {source="Europe PMC"} xref: PMID:25042713 {source="Europe PMC"} xref: PMID:7381846 {source="ChEMBL"} xref: PMID:7548723 {source="Europe PMC"} xref: PMID:7689168 {source="Europe PMC"} xref: PMID:7896413 {source="Europe PMC"} xref: PMID:9686972 {source="Europe PMC"} xref: PPDB:359 xref: Reaxys:1209228 {source="Reaxys"} xref: UM-BBD_compID:c0122 {source="UM-BBD"} xref: Wikipedia:Formaldehyde is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "CH2O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/CH2O/c1-2/h1H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WSFSSNUMVMOOMR-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "30.02598" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "30.01056" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H]C([H])=O" xsd:string [Term] id: CHEBI:16856 name: glutathione namespace: chebi_ontology alt_id: CHEBI:12402 alt_id: CHEBI:14327 alt_id: CHEBI:24334 alt_id: CHEBI:42873 alt_id: CHEBI:43049 alt_id: CHEBI:5437 def: "A tripeptide compound consisting of glutamic acid attached via its side chain to the N-terminus of cysteinylglycine." [] subset: 3_STAR synonym: "5-L-Glutamyl-L-cysteinylglycine" RELATED [KEGG_COMPOUND] synonym: "gamma-L-Glutamyl-L-cysteinyl-glycine" RELATED [KEGG_COMPOUND] synonym: "Glutathione" EXACT [KEGG_COMPOUND] synonym: "Glutathione-SH" RELATED [HMDB] synonym: "GSH" RELATED [KEGG_COMPOUND] synonym: "L-gamma-glutamyl-L-cysteinylglycine" EXACT IUPAC_NAME [IUPAC] synonym: "N-(N-gamma-L-Glutamyl-L-cysteinyl)glycine" RELATED [KEGG_COMPOUND] synonym: "Reduced glutathione" RELATED [KEGG_COMPOUND] xref: CAS:70-18-8 {source="ChemIDplus"} xref: CAS:70-18-8 {source="KEGG COMPOUND"} xref: Chemspider:111188 xref: Drug_Central:1312 {source="DrugCentral"} xref: DrugBank:DB00143 xref: FooDB:FDB001498 xref: HMDB:HMDB0000125 xref: KEGG:C00051 xref: KEGG:D00014 xref: KNApSAcK:C00001518 xref: MetaCyc:GLUTATHIONE xref: PDBeChem:GSH xref: PMID:10577998 {source="Europe PMC"} xref: PMID:1362956 {source="Europe PMC"} xref: PMID:14988435 {source="Europe PMC"} xref: PMID:16112416 {source="Europe PMC"} xref: PMID:16316931 {source="Europe PMC"} xref: PMID:16391576 {source="Europe PMC"} xref: PMID:16404476 {source="Europe PMC"} xref: PMID:16621738 {source="Europe PMC"} xref: PMID:16650398 {source="Europe PMC"} xref: PMID:16780237 {source="Europe PMC"} xref: PMID:16877380 {source="Europe PMC"} xref: PMID:17439666 {source="Europe PMC"} xref: PMID:19580823 {source="Europe PMC"} xref: PMID:4200890 {source="Europe PMC"} xref: PMID:4745654 {source="Europe PMC"} xref: PMID:8207209 {source="Europe PMC"} xref: Reaxys:1729812 {source="Reaxys"} xref: Wikipedia:Glutathione is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H17N3O6S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H17N3O6S/c11-5(10(18)19)1-2-7(14)13-6(4-20)9(17)12-3-8(15)16/h5-6,20H,1-4,11H2,(H,12,17)(H,13,14)(H,15,16)(H,18,19)/t5-,6-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RWSXRVCMGQZWBV-WDSKDSINSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "307.320" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "307.08381" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "N[C@@H](CCC(=O)N[C@@H](CS)C(=O)NCC(=O)O)C(=O)O" xsd:string [Term] id: CHEBI:16865 name: gamma-aminobutyric acid namespace: chebi_ontology alt_id: CHEBI:1786 alt_id: CHEBI:193777 alt_id: CHEBI:20318 alt_id: CHEBI:40483 def: "A gamma-amino acid that is butanoic acid with the amino substituent located at C-4." [] subset: 3_STAR synonym: "4-Aminobutanoic acid" RELATED [KEGG_COMPOUND] synonym: "4-aminobutanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "4-aminobutanoic acid" RELATED [ChEBI] synonym: "4-Aminobutyric acid" RELATED [KEGG_COMPOUND] synonym: "4-aminobutyric acid" RELATED [ChEBI] synonym: "4Abu" RELATED [ChEBI] synonym: "GABA" RELATED [KEGG_COMPOUND] synonym: "GABA" RELATED [IUPHAR] synonym: "GAMMA-AMINO-BUTANOIC ACID" RELATED [PDBeChem] synonym: "gamma-amino-n-butyric acid" RELATED [NIST_Chemistry_WebBook] synonym: "gamma-aminobutanoic acid" RELATED [NIST_Chemistry_WebBook] synonym: "gamma-Aminobuttersaeure" RELATED [NIST_Chemistry_WebBook] synonym: "gamma-Aminobutyric acid" EXACT [KEGG_COMPOUND] synonym: "gamma-aminobutyric acid" EXACT [NIST_Chemistry_WebBook] synonym: "omega-aminobutyric acid" RELATED [NIST_Chemistry_WebBook] synonym: "piperidic acid" RELATED [ChemIDplus] synonym: "piperidinic acid" RELATED [ChemIDplus] xref: Beilstein:906818 {source="Beilstein"} xref: BPDB:2298 xref: CAS:56-12-2 {source="ChemIDplus"} xref: CAS:56-12-2 {source="NIST Chemistry WebBook"} xref: CAS:56-12-2 {source="KEGG COMPOUND"} xref: Drug_Central:1262 {source="DrugCentral"} xref: DrugBank:DB02530 xref: Gmelin:49775 {source="Gmelin"} xref: HMDB:HMDB0000112 xref: KEGG:C00334 xref: KEGG:D00058 xref: KNApSAcK:C00001337 xref: LIPID_MAPS_instance:LMFA01100039 {source="LIPID MAPS"} xref: MetaCyc:4-AMINO-BUTYRATE xref: PDBeChem:ABU xref: PMID:10630630 {source="Europe PMC"} xref: PMID:10930630 {source="Europe PMC"} xref: PMID:16276116 {source="Europe PMC"} xref: PMID:21614609 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: Reaxys:906818 {source="Reaxys"} xref: Wikipedia:Gamma-Aminobutyric_acid is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H9NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H9NO2/c5-3-1-2-4(6)7/h1-3,5H2,(H,6,7)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BTCSSZJGUNDROE-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "103.11980" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "103.06333" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NCCCC(O)=O" xsd:string [Term] id: CHEBI:16870 name: choline alfoscerate namespace: chebi_ontology alt_id: CHEBI:10646 alt_id: CHEBI:12841 alt_id: CHEBI:12847 alt_id: CHEBI:14343 alt_id: CHEBI:26697 alt_id: CHEBI:41458 alt_id: CHEBI:55397 alt_id: CHEBI:76433 def: "A member of the class of phosphocholines that is the choline ester of sn-glycero-3-phosphate. It is one of the major osmolyte in the renal medullary cells." [] subset: 3_STAR synonym: "(2R)-2,3-dihydroxypropyl 2-(trimethylammonio)ethyl phosphate" RELATED [IUPAC] synonym: "(2R)-2,3-dihydroxypropyl 2-(trimethylazaniumyl)ethyl phosphate" EXACT IUPAC_NAME [IUPAC] synonym: "2-{[(2R)-2,3-dihydroxypropoxy](hydroxy)phosphoryloxy}-N,N,N-trimethylethanaminium" EXACT IUPAC_NAME [IUPAC] synonym: "alfoscerate de choline" RELATED INN [ChemIDplus] synonym: "alfoscerato de colina" RELATED INN [ChemIDplus] synonym: "alpha-Glycerophosphorylcholine" RELATED [HMDB] synonym: "choline alfoscerate" RELATED INN [KEGG_DRUG] synonym: "choline alfoscerate" RELATED INN [ChemIDplus] synonym: "Choline alphoscerate" RELATED [ChemIDplus] synonym: "Choline glycerophosphate" RELATED [ChemIDplus] synonym: "cholini alfosceras" RELATED INN [ChemIDplus] synonym: "Cholini glycerophosphas" RELATED [ChemIDplus] synonym: "Glicerofosfato de colina" RELATED [ChemIDplus] synonym: "Glycerol phosphorylcholine" RELATED [HMDB] synonym: "Glycerol-3-phosphatidylcholine" RELATED [HMDB] synonym: "glycerol-3-phosphocholine" RELATED [ChEBI] synonym: "Glycerophosphate de choline" RELATED [ChemIDplus] synonym: "Glycerophosphocholine" RELATED [ChemIDplus] synonym: "Glycerophosphocholine" RELATED [KEGG_COMPOUND] synonym: "Glycerophosphorylcholine" RELATED [ChemIDplus] synonym: "GPCho" RELATED [HMDB] synonym: "L-alpha-Glycerophosphocholine" RELATED [ChemIDplus] synonym: "L-alpha-Glycerophosphorylcholine" RELATED [ChemIDplus] synonym: "L-alpha-Glycerophosphorylcholine" RELATED [HMDB] synonym: "L-Choline hydroxide 2,3-dihydroxypropyl hydrogen phosphate inner salt" RELATED [HMDB] synonym: "sn-3-GPC" RELATED [MetaCyc] synonym: "sn-Glycero-3-phosphocholine" RELATED [ChemIDplus] synonym: "sn-glycero-3-phosphocholine" RELATED [ChEBI] synonym: "sn-glycerol 3-phosphocholine" RELATED [UniProt] xref: Beilstein:6062450 {source="Beilstein"} xref: CAS:28319-77-9 {source="ChemIDplus"} xref: CAS:28319-77-9 {source="KEGG COMPOUND"} xref: CAS:28319-77-9 {source="KEGG DRUG"} xref: Drug_Central:627 {source="DrugCentral"} xref: DrugBank:DB04660 xref: HMDB:HMDB0000086 xref: KEGG:C00670 xref: KEGG:D07349 xref: MetaCyc:L-1-GLYCERO-PHOSPHORYLCHOLINE xref: PDBeChem:CH5 xref: PMID:21165396 {source="Europe PMC"} xref: PMID:21195433 {source="Europe PMC"} xref: PMID:22191561 {source="Europe PMC"} xref: PMID:22677751 {source="Europe PMC"} xref: PMID:22679745 {source="Europe PMC"} xref: PMID:22959283 {source="Europe PMC"} xref: PMID:23013274 {source="SUBMITTER"} xref: PMID:23244432 {source="Europe PMC"} xref: PMID:23268258 {source="Europe PMC"} xref: PMID:23314552 {source="Europe PMC"} xref: PMID:23387341 {source="Europe PMC"} xref: PMID:23528493 {source="Europe PMC"} xref: PMID:24156263 {source="Europe PMC"} xref: PMID:24166560 {source="Europe PMC"} xref: PMID:6420466 {source="Europe PMC"} xref: Reaxys:3908444 {source="Reaxys"} xref: Wikipedia:Alpha-GPC is_a: CHEBI:26020 ! phosphate property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H20NO6P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H20NO6P/c1-9(2,3)4-5-14-16(12,13)15-7-8(11)6-10/h8,10-11H,4-7H2,1-3H3/t8-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SUHOQUVVVLNYQR-MRVPVSSYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "257.22130" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "257.10282" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[N+](C)(C)CCOP([O-])(=O)OC[C@H](O)CO" xsd:string [Term] id: CHEBI:16891 name: glyoxylic acid namespace: chebi_ontology alt_id: CHEBI:24421 alt_id: CHEBI:42767 alt_id: CHEBI:5509 def: "A 2-oxo monocarboxylic acid that is acetic acid bearing an oxo group at the alpha carbon atom." [] subset: 3_STAR synonym: "alpha-ketoacetic acid" RELATED [NIST_Chemistry_WebBook] synonym: "formylformic acid" RELATED [NIST_Chemistry_WebBook] synonym: "Glyoxalate" RELATED [KEGG_COMPOUND] synonym: "Glyoxalsaeure" RELATED [ChEBI] synonym: "Glyoxylate" RELATED [KEGG_COMPOUND] synonym: "GLYOXYLIC ACID" EXACT [PDBeChem] synonym: "Glyoxylic acid" EXACT [KEGG_COMPOUND] synonym: "Glyoxylsaeure" RELATED [ChEBI] synonym: "oxalaldehydic acid" RELATED [ChemIDplus] synonym: "oxoacetic acid" EXACT IUPAC_NAME [IUPAC] synonym: "oxoethanoic acid" RELATED [ChemIDplus] xref: Beilstein:741891 {source="Beilstein"} xref: CAS:298-12-4 {source="ChemIDplus"} xref: CAS:298-12-4 {source="NIST Chemistry WebBook"} xref: CAS:298-12-4 {source="KEGG COMPOUND"} xref: DrugBank:DB04343 xref: Gmelin:25752 {source="Gmelin"} xref: HMDB:HMDB0000119 xref: KEGG:C00048 xref: KNApSAcK:C00001186 xref: MetaCyc:GLYOX xref: PDBeChem:GLV xref: PMID:11479160 {source="Europe PMC"} xref: PMID:16396466 {source="Europe PMC"} xref: PMID:22580421 {source="Europe PMC"} xref: PMID:23790896 {source="Europe PMC"} xref: Reaxys:741891 {source="Reaxys"} xref: Wikipedia:Glyoxylic_acid is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C2H2O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C2H2O3/c3-1-2(4)5/h1H,(H,4,5)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HHLFWLYXYJOTON-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "74.03548" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "74.00039" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H]C(=O)C(O)=O" xsd:string [Term] id: CHEBI:16893 name: sphinganine 1-phosphate namespace: chebi_ontology alt_id: CHEBI:15100 alt_id: CHEBI:23767 alt_id: CHEBI:9222 def: "A sphingoid 1-phosphate that is the monophosphorylated derivative of sphinganine." [] subset: 3_STAR synonym: "(2S,3R)-2-amino-3-hydroxyoctadecyl dihydrogen phosphate" RELATED [IUPAC] synonym: "DHS-1P" RELATED [ChEBI] synonym: "DHS1P" RELATED [ChEBI] synonym: "Dihydrosphingosine 1-phosphate" RELATED [KEGG_COMPOUND] synonym: "dihydrosphingosine-1-phosphate" RELATED [ChemIDplus] synonym: "sphinganine 1-(dihydrogen phosphate)" EXACT IUPAC_NAME [IUPAC] synonym: "Sphinganine 1-phosphate" EXACT [KEGG_COMPOUND] xref: Beilstein:6780476 {source="Beilstein"} xref: CAS:19794-97-9 {source="KEGG COMPOUND"} xref: CAS:19794-97-9 {source="ChemIDplus"} xref: FooDB:FDB022594 xref: HMDB:HMDB0001383 xref: KEGG:C01120 xref: KNApSAcK:C00007541 xref: LIPID_MAPS_instance:LMSP01050002 {source="LIPID MAPS"} xref: PMID:16278291 {source="Europe PMC"} xref: PMID:16529909 {source="Europe PMC"} xref: PMID:17060094 {source="Europe PMC"} xref: PMID:18482992 {source="Europe PMC"} xref: PMID:19119142 {source="Europe PMC"} xref: PMID:20309867 {source="Europe PMC"} xref: PMID:22016110 {source="Europe PMC"} xref: PMID:23373542 {source="Europe PMC"} xref: PMID:2754341 {source="Europe PMC"} xref: PMID:27585475 {source="Europe PMC"} xref: PMID:30557628 {source="Europe PMC"} xref: PMID:32278008 {source="Europe PMC"} xref: PMID:33535437 {source="Europe PMC"} xref: PMID:7897327 {source="Europe PMC"} xref: PMID:8192648 {source="Europe PMC"} xref: PMID:9353337 {source="Europe PMC"} xref: Reaxys:6780476 {source="Reaxys"} is_a: CHEBI:16247 ! phospholipid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H40NO5P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H40NO5P/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-18(20)17(19)16-24-25(21,22)23/h17-18,20H,2-16,19H2,1H3,(H2,21,22,23)/t17-,18+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YHEDRJPUIRMZMP-ZWKOTPCHSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "381.48770" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "381.26441" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCCCCCCCCC[C@@H](O)[C@@H](N)COP(O)(O)=O" xsd:string [Term] id: CHEBI:16899 name: D-mannitol namespace: chebi_ontology alt_id: CHEBI:12996 alt_id: CHEBI:130180 alt_id: CHEBI:21050 alt_id: CHEBI:44192 alt_id: CHEBI:6686 def: "The D-enantiomer of mannitol." [] subset: 3_STAR synonym: "(2R,3R,4R,5R)-Hexane-1,2,3,4,5,6-hexaol" RELATED [ChEMBL] synonym: "(2R,3R,4R,5R)-hexane-1,2,3,4,5,6-hexaol" RELATED [ChEMBL] synonym: "(2R,3R,4R,5R)-hexane-1,2,3,4,5,6-hexol" RELATED [ChEMBL] synonym: "D-(-)-Mannitol" RELATED [NIST_Chemistry_WebBook] synonym: "D-Mannitol" EXACT [KEGG_COMPOUND] synonym: "D-mannitol" EXACT [ChEBI] synonym: "D-mannitol" EXACT IUPAC_NAME [IUPAC] synonym: "D-mannitol" EXACT [UniProt] synonym: "dulcite" RELATED [ChEBI] synonym: "E 421" RELATED [ChEBI] synonym: "E-421" RELATED [ChEBI] synonym: "E421" RELATED [ChEBI] synonym: "manna sugar" RELATED [ChEBI] synonym: "mannite" RELATED [ChEBI] synonym: "Mannitol" RELATED [KEGG_COMPOUND] synonym: "mannitol" RELATED [ChEMBL] synonym: "Osmitrol" RELATED BRAND_NAME [DrugBank] xref: Beilstein:1721898 {source="Beilstein"} xref: CAS:69-65-8 {source="NIST Chemistry WebBook"} xref: CAS:69-65-8 {source="ChemIDplus"} xref: CAS:69-65-8 {source="KEGG COMPOUND"} xref: Drug_Central:935 {source="DrugCentral"} xref: DrugBank:DB00742 xref: Gmelin:83161 {source="Gmelin"} xref: HMDB:HMDB0000765 xref: KEGG:C00392 xref: KEGG:D00062 xref: KNApSAcK:C00001165 xref: MeSH:D008353 xref: MetaCyc:MANNITOL xref: NCIt:C625 xref: PDBeChem:MTL xref: PMID:11784135 {source="ChEMBL"} xref: PMID:12646037 {source="ChEMBL"} xref: PMID:15658873 {source="ChEMBL"} xref: PMID:15863337 {source="ChEMBL"} xref: PMID:16854081 {source="ChEMBL"} xref: PMID:16901854 {source="Europe PMC"} xref: PMID:17336832 {source="Europe PMC"} xref: PMID:17420133 {source="ChEMBL"} xref: PMID:17827020 {source="ChEMBL"} xref: PMID:17973471 {source="ChEMBL"} xref: PMID:17979222 {source="Europe PMC"} xref: PMID:17983214 {source="ChEMBL"} xref: PMID:18207412 {source="ChEMBL"} xref: PMID:18220330 {source="ChEMBL"} xref: PMID:22770225 {source="Europe PMC"} xref: PMID:24643482 {source="Europe PMC"} xref: PMID:25108762 {source="Europe PMC"} xref: Reaxys:1721898 {source="Reaxys"} xref: SNOMEDCT:30761007 xref: SNOMEDCT:387168006 xref: Wikipedia:Mannitol is_a: CHEBI:16646 ! carbohydrate relationship: has_role CHEBI:23366 ! compatible osmolytes relationship: has_role CHEBI:50504 ! osmotic diuretic relationship: has_role CHEBI:50505 ! sweetening agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H14O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H14O6/c7-1-3(9)5(11)6(12)4(10)2-8/h3-12H,1-2H2/t3-,4-,5-,6-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FBPFZTCFMRRESA-KVTDHHQDSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "182.17176" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "182.07904" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC[C@@H](O)[C@@H](O)[C@H](O)[C@H](O)CO" xsd:string [Term] id: CHEBI:16914 name: salicylic acid namespace: chebi_ontology alt_id: CHEBI:26597 alt_id: CHEBI:45521 alt_id: CHEBI:9006 def: "A monohydroxybenzoic acid that is benzoic acid with a hydroxy group at the ortho position. It is obtained from the bark of the white willow and wintergreen leaves." [] subset: 3_STAR synonym: "2-carboxyphenol" RELATED [NIST_Chemistry_WebBook] synonym: "2-HYDROXYBENZOIC ACID" RELATED [PDBeChem] synonym: "2-hydroxybenzoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "o-carboxyphenol" RELATED [NIST_Chemistry_WebBook] synonym: "o-Hydroxybenzoic acid" RELATED [KEGG_COMPOUND] synonym: "o-hydroxybenzoic acid" RELATED [NIST_Chemistry_WebBook] synonym: "Salicylic acid" EXACT [KEGG_COMPOUND] xref: Beilstein:774890 {source="Beilstein"} xref: CAS:69-72-7 {source="KEGG COMPOUND"} xref: CAS:69-72-7 {source="ChemIDplus"} xref: CAS:69-72-7 {source="NIST Chemistry WebBook"} xref: ChEMBL:101362 xref: ChemIDplus:69-72-7 xref: CiteXplore:1650428 xref: CiteXplore:3425858 xref: Drug_Central:2416 {source="DrugCentral"} xref: DrugBank:DB00936 xref: Gmelin:3418 {source="Gmelin"} xref: HMDB:HMDB0001895 xref: KEGG COMPOUND:69-72-7 xref: KEGG COMPOUND:C00805 xref: KEGG DRUG:D00097 xref: KEGG:C00805 xref: KEGG:D00097 xref: KNApSAcK:C00000206 xref: LINCS:LSM-4763 xref: MeSH:D020156 xref: MetaCyc:CPD-110 xref: NCIt:C61934 xref: NIST Chemistry WebBook:69-72-7 xref: PDBeChem:SAL xref: PMID:11016405 {source="Europe PMC"} xref: PMID:12865403 {source="Europe PMC"} xref: PMID:1650428 {source="Europe PMC"} xref: PMID:19400653 {source="Europe PMC"} xref: PMID:19816125 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: PMID:29079364 {source="Europe PMC"} xref: PMID:32807953 {source="Europe PMC"} xref: PMID:3425858 {source="Europe PMC"} xref: Reaxys:774890 {source="Reaxys"} xref: SNOMEDCT:387253001 xref: SNOMEDCT:46741005 xref: Wikipedia:Salicylic_Acid is_a: CHEBI:33853 ! phenols is_a: EFO:0004416 ! acid relationship: has_role CHEBI:37848 ! plant hormone property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H6O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H6O3/c8-6-4-2-1-3-5(6)7(9)10/h1-4,8H,(H,9,10)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YGSDEFSMJLZEOE-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "138.12070" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "138.03169" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)c1ccccc1O" xsd:string [Term] id: CHEBI:16919 name: creatine namespace: chebi_ontology alt_id: CHEBI:14028 alt_id: CHEBI:23404 alt_id: CHEBI:3909 alt_id: CHEBI:41678 def: "A glycine derivative having methyl and amidino groups attached to the nitrogen." [] subset: 3_STAR synonym: "((amino(imino)methyl)(methyl)amino)acetic acid" RELATED [HMDB] synonym: "(alpha-methylguanido)acetic acid" RELATED [NIST_Chemistry_WebBook] synonym: "(alpha-methylguanido)acetic acid" RELATED [HMDB] synonym: "(N-methylcarbamimidamido)acetic acid" RELATED [ChEBI] synonym: "alpha-Methylguanidino acetic acid" RELATED [KEGG_COMPOUND] synonym: "Creatin" RELATED [ChemIDplus] synonym: "Creatine" EXACT [KEGG_COMPOUND] synonym: "Kreatin" RELATED [ChemIDplus] synonym: "Methylglycocyamine" RELATED [KEGG_COMPOUND] synonym: "N-(aminoiminomethyl)-N-methylglycine" RELATED [NIST_Chemistry_WebBook] synonym: "N-[(E)-AMINO(IMINO)METHYL]-N-METHYLGLYCINE" RELATED [PDBeChem] synonym: "N-[amino(imino)methyl]-N-methylglycine" EXACT IUPAC_NAME [IUPAC] synonym: "N-amidinosarcosine" RELATED [ChemIDplus] synonym: "N-carbamimidoyl-N-methylglycine" RELATED [PDBeChem] synonym: "N-Methyl-N-guanylglycine" RELATED [HMDB] synonym: "N-methyl-N-guanylglycine" RELATED [ChemIDplus] xref: Beilstein:907175 {source="Beilstein"} xref: CAS:57-00-1 {source="NIST Chemistry WebBook"} xref: CAS:57-00-1 {source="KEGG COMPOUND"} xref: CAS:57-00-1 {source="ChemIDplus"} xref: Chemspider:566 xref: Drug_Central:4661 {source="DrugCentral"} xref: DrugBank:DB00148 xref: Gmelin:240513 {source="Gmelin"} xref: HMDB:HMDB0000064 xref: KEGG:C00300 xref: MeSH:D003401 xref: MetaCyc:CREATINE xref: NCIt:C37937 xref: PDBeChem:CRN xref: PMID:11356982 {source="Europe PMC"} xref: PMID:11483809 {source="Europe PMC"} xref: PMID:11867929 {source="Europe PMC"} xref: PMID:12085493 {source="Europe PMC"} xref: PMID:12184144 {source="Europe PMC"} xref: PMID:12878267 {source="Europe PMC"} xref: PMID:16445883 {source="Europe PMC"} xref: PMID:17190852 {source="Europe PMC"} xref: PMID:17253521 {source="Europe PMC"} xref: PMID:17416441 {source="Europe PMC"} xref: PMID:18555535 {source="Europe PMC"} xref: PMID:19082141 {source="Europe PMC"} xref: PMID:19651674 {source="Europe PMC"} xref: PMID:19741514 {source="Europe PMC"} xref: PMID:19968328 {source="Europe PMC"} xref: PMID:21556832 {source="Europe PMC"} xref: PMID:21660517 {source="Europe PMC"} xref: PMID:21698493 {source="Europe PMC"} xref: PMID:22038587 {source="Europe PMC"} xref: PMID:22101931 {source="Europe PMC"} xref: PMID:22196490 {source="Europe PMC"} xref: PMID:22252611 {source="Europe PMC"} xref: PMID:22347384 {source="Europe PMC"} xref: PMID:22386973 {source="Europe PMC"} xref: PMID:22422801 {source="Europe PMC"} xref: PMID:22429992 {source="Europe PMC"} xref: PMID:22465051 {source="Europe PMC"} xref: PMID:22521466 {source="Europe PMC"} xref: PMID:7752905 {source="Europe PMC"} xref: Reaxys:907175 {source="Reaxys"} xref: SNOMEDCT:14804005 xref: Wikipedia:Creatine is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:25212 ! metabolite property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H9N3O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H9N3O2/c1-7(4(5)6)2-3(8)9/h2H2,1H3,(H3,5,6)(H,8,9)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CVSVTCORWBXHQV-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "131.13328" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "131.06948" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN(CC(O)=O)C(N)=N" xsd:string [Term] id: CHEBI:16947 name: citrate(3-) namespace: chebi_ontology alt_id: CHEBI:13999 alt_id: CHEBI:23321 alt_id: CHEBI:42563 def: "A tricarboxylic acid trianion, obtained by deprotonation of the three carboxy groups of citric acid." [] subset: 3_STAR synonym: "2-hydroxy-1,2,3-propanetricarboxylate" RELATED [ChEBI] synonym: "2-hydroxy-1,2,3-propanetricarboxylate(3-)" RELATED [ChemIDplus] synonym: "2-hydroxy-1,2,3-propanetricarboxylic acid, ion(3-)" RELATED [ChemIDplus] synonym: "2-hydroxypropane-1,2,3-tricarboxylate" EXACT IUPAC_NAME [IUPAC] synonym: "2-hydroxytricarballylate" RELATED [ChEBI] synonym: "cit" RELATED [IUPAC] synonym: "cit(3-)" RELATED [ChEBI] synonym: "citrate" RELATED [UniProt] synonym: "CITRATE ANION" RELATED [PDBeChem] xref: Beilstein:1884707 {source="Beilstein"} xref: CAS:126-44-3 {source="ChemIDplus"} xref: Gmelin:4239 {source="Gmelin"} xref: KEGG:C00158 xref: PDBeChem:FLC xref: Reaxys:1884707 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H5O7" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H8O7/c7-3(8)1-6(13,5(11)12)2-4(9)10/h13H,1-2H2,(H,7,8)(H,9,10)(H,11,12)/p-3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KRKNYBCHXYNGOX-UHFFFAOYSA-K" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "189.09970" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "189.00517" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(CC([O-])=O)(CC([O-])=O)C([O-])=O" xsd:string [Term] id: CHEBI:16953 name: N-acetyl-L-aspartate(2-) namespace: chebi_ontology alt_id: CHEBI:12574 alt_id: CHEBI:21546 alt_id: CHEBI:7149 alt_id: CHEBI:87271 def: "A doubly-charged N-acyl-L-alpha-amino acid anion resulting from deprotonation of both carboxy groups of N-acetyl-L-aspartic acid." [] subset: 3_STAR synonym: "(2S)-2-acetamidobutanedioate" EXACT IUPAC_NAME [IUPAC] synonym: "(S)-2-(acetylamino)succinate" RELATED [ChEBI] synonym: "N-Acetyl-L-aspartate" RELATED [KEGG_COMPOUND] synonym: "N-acetyl-L-aspartate" RELATED [UniProt] xref: Gmelin:2250815 {source="Gmelin"} xref: KEGG:C01042 xref: MetaCyc:CPD-420 xref: PMID:12718449 {source="Europe PMC"} xref: PMID:14645985 {source="Europe PMC"} xref: PMID:15836629 {source="Europe PMC"} xref: PMID:16524379 {source="Europe PMC"} xref: PMID:17190852 {source="Europe PMC"} xref: PMID:18002959 {source="Europe PMC"} xref: PMID:18293939 {source="Europe PMC"} xref: PMID:18355643 {source="Europe PMC"} xref: PMID:18835755 {source="Europe PMC"} xref: PMID:19091459 {source="Europe PMC"} xref: PMID:19531109 {source="Europe PMC"} xref: PMID:19850131 {source="Europe PMC"} xref: PMID:20398713 {source="Europe PMC"} xref: PMID:20421982 {source="Europe PMC"} xref: PMID:4377221 {source="Europe PMC"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H7NO5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H9NO5/c1-3(8)7-4(6(11)12)2-5(9)10/h4H,2H2,1H3,(H,7,8)(H,9,10)(H,11,12)/p-2/t4-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OTCCIMWXFLJLIA-BYPYZUCNSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "173.124" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "173.03352" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "N(C(=O)C)[C@@H](CC([O-])=O)C(=O)[O-]" xsd:string [Term] id: CHEBI:169570 name: N-(3E-hexadecenoyl)-deoxysphing-4-enine-1-sulfonate namespace: chebi_ontology subset: 2_STAR synonym: "(E,2R,3R)-2-[[(E)-hexadec-3-enoyl]amino]-3-hydroxyoctadec-4-ene-1-sulonic acid" EXACT IUPAC_NAME [SUBMITTER] xref: Chemspider:24823203 xref: LIPID_MAPS_instance:LMSP00000003 {source="LIPID MAPS"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C34H65NO5S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C34H65NO5S/c1-3-5-7-9-11-13-15-17-19-21-23-25-27-29-33(36)32(31-41(38,39)40)35-34(37)30-28-26-24-22-20-18-16-14-12-10-8-6-4-2/h26-29,32-33,36H,3-25,30-31H2,1-2H3,(H,35,37)(H,38,39,40)/b28-26+,29-27+/t32-,33+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FPTGOQRFJXQGQS-SAWZVONUSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "599.960" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "599.45835" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "S(O)(=O)(=O)C[C@H](NC(=O)C\\C=C\\CCCCCCCCCCCC)[C@H](O)\\C=C\\CCCCCCCCCCCCC" xsd:string [Term] id: CHEBI:16958 name: beta-alanine namespace: chebi_ontology alt_id: CHEBI:10343 alt_id: CHEBI:12389 alt_id: CHEBI:22821 alt_id: CHEBI:41050 def: "A naturally-occurring beta-amino acid comprising propionic acid with the amino group in the 3-position." [] subset: 3_STAR synonym: "3-aminopropanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "3-aminopropanoic acid" RELATED [ChEBI] synonym: "3-Aminopropionic acid" RELATED [KEGG_COMPOUND] synonym: "bAla" RELATED [ChEBI] synonym: "BETA-ALANINE" EXACT [PDBeChem] synonym: "beta-Alanine" EXACT [KEGG_COMPOUND] synonym: "beta-alanine" EXACT IUPAC_NAME [IUPAC] synonym: "beta-aminopropionic acid" RELATED [NIST_Chemistry_WebBook] synonym: "H-beta-Ala-OH" RELATED [ChEBI] synonym: "omega-aminopropionic acid" RELATED [ChEBI] xref: Beilstein:906793 {source="Beilstein"} xref: CAS:107-95-9 {source="ChemIDplus"} xref: CAS:107-95-9 {source="KEGG COMPOUND"} xref: CAS:107-95-9 {source="NIST Chemistry WebBook"} xref: DrugBank:DB03107 xref: Gmelin:49614 {source="Gmelin"} xref: HMDB:HMDB0000056 xref: KEGG:C00099 xref: KEGG:D07561 xref: KNApSAcK:C00001333 xref: MetaCyc:B-ALANINE xref: PDBeChem:BAL xref: PMID:11139233 {source="Europe PMC"} xref: PMID:11850512 {source="Europe PMC"} xref: PMID:12107759 {source="Europe PMC"} xref: PMID:12887142 {source="Europe PMC"} xref: PMID:14363188 {source="Europe PMC"} xref: PMID:16934791 {source="Europe PMC"} xref: PMID:18528519 {source="Europe PMC"} xref: PMID:18613640 {source="Europe PMC"} xref: PMID:19239140 {source="Europe PMC"} xref: PMID:19955842 {source="Europe PMC"} xref: PMID:20199122 {source="Europe PMC"} xref: PMID:20386120 {source="Europe PMC"} xref: PMID:20479615 {source="Europe PMC"} xref: PMID:20994958 {source="Europe PMC"} xref: PMID:22735334 {source="Europe PMC"} xref: Reaxys:906793 {source="Reaxys"} xref: Wikipedia:Beta-Alanine is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H7NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H7NO2/c4-2-1-3(5)6/h1-2,4H2,(H,5,6)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UCMIRNVEIXFBKS-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "89.09322" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "89.04768" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NCCC(O)=O" xsd:string [Term] id: CHEBI:16962 name: cortisone namespace: chebi_ontology alt_id: CHEBI:14026 alt_id: CHEBI:23397 alt_id: CHEBI:3896 def: "A C21-steroid that is pregn-4-ene substituted by hydroxy groups at positions 17 and 21 and oxo group at positions 3, 11 and 20." [] subset: 3_STAR synonym: "11-dehydro-17-hydroxycorticosterone" RELATED [ChemIDplus] synonym: "17,21-dihydroxypregn-4-ene-3,11,20-trione" EXACT IUPAC_NAME [IUPAC] synonym: "17-hydroxy-11-dehydrocorticosterone" RELATED [ChemIDplus] synonym: "17alpha,21-Dihydroxy-4-pregnene-3,11,20-trione" RELATED [KEGG_COMPOUND] synonym: "17alpha,21-dihydroxy-4-pregnene-3,11,20-trione" RELATED [NIST_Chemistry_WebBook] synonym: "4-pregnene-17alpha,21-diol-3,11,20-trione" RELATED [NIST_Chemistry_WebBook] synonym: "Cortison" RELATED [NIST_Chemistry_WebBook] synonym: "Cortisone" EXACT [KEGG_COMPOUND] synonym: "cortisone" EXACT [UniProt] synonym: "Delta(4)-pregnene-17alpha,21-diol-3,11,20-trione" RELATED [ChEBI] synonym: "Kendall's compound E" RELATED [KEGG_COMPOUND] synonym: "Kortison" RELATED [ChEBI] synonym: "pregn-4-en-17alpha,21-diol-3,11,20-trione" RELATED [NIST_Chemistry_WebBook] synonym: "Reichstein's substance Fa" RELATED [KEGG_COMPOUND] synonym: "Wintersteiner's compound F" RELATED [ChemIDplus] xref: Beilstein:1356062 {source="Beilstein"} xref: CAS:53-06-5 {source="KEGG COMPOUND"} xref: CAS:53-06-5 {source="ChemIDplus"} xref: CAS:53-06-5 {source="NIST Chemistry WebBook"} xref: HMDB:HMDB0002802 xref: KEGG:C00762 xref: KEGG:D07749 xref: LIPID_MAPS_instance:LMST02030090 {source="LIPID MAPS"} xref: MetaCyc:CORTISONE xref: PMID:11710540 {source="Europe PMC"} xref: PMID:14874924 {source="Europe PMC"} xref: PMID:2268561 {source="Europe PMC"} xref: PMID:24391193 {source="Europe PMC"} xref: PMID:8989250 {source="Europe PMC"} xref: Reaxys:1356062 {source="Reaxys"} xref: Wikipedia:Cortisone is_a: CHEBI:26764 ! steroid hormone property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C21H28O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C21H28O5/c1-19-7-5-13(23)9-12(19)3-4-14-15-6-8-21(26,17(25)11-22)20(15,2)10-16(24)18(14)19/h9,14-15,18,22,26H,3-8,10-11H2,1-2H3/t14-,15-,18+,19-,20-,21-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "MFYSYFVPBJMHGN-ZPOLXVRWSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "360.44402" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "360.19367" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12CCC3=CC(=O)CC[C@]3(C)[C@@]1([H])C(=O)C[C@@]1(C)[C@@]2([H])CC[C@]1(O)C(=O)CO" xsd:string [Term] id: CHEBI:16979 name: beta-D-galactosyl-1,4-N-acetyl-beta-D-glucosaminyl glycopeptide namespace: chebi_ontology alt_id: CHEBI:10391 alt_id: CHEBI:12365 alt_id: CHEBI:22790 subset: 1_STAR is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:16990 name: bilirubin IXalpha namespace: chebi_ontology alt_id: CHEBI:13898 alt_id: CHEBI:22870 alt_id: CHEBI:3099 def: "A member of the class of biladienes that is a linear tetrapyrrole with the dipyrrole units being of both exovinyl and endovinyl type. A product of heme degradation, it is produced in the reticuloendothelial system by the reduction of biliverdin and transported to the liver as a complex with serum albumin." [] subset: 3_STAR synonym: "1,10,19,22,23,24-hexahydro-2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinylbiline-8,12-dipropionic acid" RELATED [ChemIDplus] synonym: "2,17-diethenyl-1,10,19,22,23,24-hexahydro-3,7,13,18-tetramethyl-1,19-dioxo-21H-biline-8,12-dipropanoic acid" RELATED [ChemIDplus] synonym: "2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinyl-1,10,19,22,23,24-hexahydro-21H-biline-8,12-dipropanoic acid" RELATED [IUPAC] synonym: "3,18-diethenyl-2,7,13,17-tetramethyl-1,19-dioxo-1,10,19,22,23,24-hexahydro-21H-biline-8,12-dipropanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "8,12-bis(2-carboxyethyl)-2,7,13,17-tetramethyl-3,18-divinylbiladiene-ac-1,19(21H,24H)-dione" RELATED [JCBN] synonym: "Bilirubin" RELATED [KEGG_COMPOUND] synonym: "bilirubin" EXACT IUPAC_NAME [IUPAC] synonym: "bilirubin(Z,Z)" RELATED [ChEBI] synonym: "bilirubin-IXalpha" RELATED [ChEBI] xref: Beilstein:74376 {source="Beilstein"} xref: CAS:635-65-4 {source="KEGG COMPOUND"} xref: CAS:635-65-4 {source="ChemIDplus"} xref: ChemIDplus:635-65-4 xref: Gmelin:411033 {source="Gmelin"} xref: HMDB:HMDB0000054 xref: KEGG COMPOUND:635-65-4 xref: KEGG COMPOUND:C00486 xref: KEGG:C00486 xref: KNApSAcK:C00029828 xref: MeSH:D001663 xref: MetaCyc:BILIRUBIN xref: NCIt:C305 xref: PDBeChem:BLR xref: PMID:12799017 {source="Europe PMC"} xref: PMID:18442622 {source="Europe PMC"} xref: PMID:23763371 {source="Europe PMC"} xref: PMID:23768684 {source="Europe PMC"} xref: PMID:30224965 {source="Europe PMC"} xref: PMID:8605219 {source="Europe PMC"} xref: PMID:9587403 {source="Europe PMC"} xref: Reaxys:74376 {source="Reaxys"} xref: SNOMEDCT:79706000 xref: Wikipedia:Bilirubin is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C33H36N4O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C33H36N4O6/c1-7-20-19(6)32(42)37-27(20)14-25-18(5)23(10-12-31(40)41)29(35-25)15-28-22(9-11-30(38)39)17(4)24(34-28)13-26-16(3)21(8-2)33(43)36-26/h7-8,13-14,34-35H,1-2,9-12,15H2,3-6H3,(H,36,43)(H,37,42)(H,38,39)(H,40,41)/b26-13-,27-14-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BPYKTIZUTYGOLE-IFADSCNNSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "584.673" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "584.26348" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC1=C(C=C)\\C(NC1=O)=C\\C1=C(C)C(CCC(O)=O)=C(CC2=C(CCC(O)=O)C(C)=C(N2)\\C=C2/NC(=O)C(C=C)=C2C)N1" xsd:string [Term] id: CHEBI:16991 name: deoxyribonucleic acid namespace: chebi_ontology alt_id: CHEBI:13302 alt_id: CHEBI:21123 alt_id: CHEBI:33698 alt_id: CHEBI:4291 def: "High molecular weight, linear polymers, composed of nucleotides containing deoxyribose and linked by phosphodiester bonds; DNA contain the genetic information of organisms." [] subset: 3_STAR synonym: "(Deoxyribonucleotide)m" RELATED [KEGG_COMPOUND] synonym: "(Deoxyribonucleotide)n" RELATED [KEGG_COMPOUND] synonym: "(Deoxyribonucleotide)n+m" RELATED [KEGG_COMPOUND] synonym: "Deoxyribonucleic acid" EXACT [KEGG_COMPOUND] synonym: "deoxyribonucleic acids" EXACT IUPAC_NAME [IUPAC] synonym: "deoxyribonucleic acids" RELATED [ChEBI] synonym: "Desoxyribonukleinsaeure" RELATED [ChEBI] synonym: "desoxyribose nucleic acid" RELATED [ChemIDplus] synonym: "DNA" RELATED [UniProt] synonym: "DNA" RELATED [KEGG_COMPOUND] synonym: "DNA" RELATED [IUPAC] synonym: "DNAn" RELATED [KEGG_COMPOUND] synonym: "DNAn+1" RELATED [KEGG_COMPOUND] synonym: "DNS" RELATED [ChEBI] synonym: "thymus nucleic acid" RELATED [ChEBI] xref: CAS:9007-49-2 {source="ChemIDplus"} xref: CAS:9007-49-2 {source="KEGG COMPOUND"} xref: KEGG:C00039 xref: MeSH:D004247 xref: MO:945 xref: NCIt:C449 xref: NIFSTD:sao454034570 xref: SNOMEDCT:24851008 is_a: CHEBI:24532 ! organic heterocyclic compound is_a: EFO:0004446 ! biological macromolecule [Term] id: CHEBI:16995 name: oxalic acid namespace: chebi_ontology alt_id: CHEBI:25730 alt_id: CHEBI:44583 alt_id: CHEBI:7811 def: "An alpha,omega-dicarboxylic acid that is ethane substituted by carboxyl groups at positions 1 and 2." [] subset: 3_STAR synonym: "Ethandisaeure" RELATED [ChEBI] synonym: "ethane-1,2-dioic acid" RELATED [NIST_Chemistry_WebBook] synonym: "Ethanedioic acid" RELATED [KEGG_COMPOUND] synonym: "H2ox" RELATED [IUPAC] synonym: "HOOCCOOH" RELATED [NIST_Chemistry_WebBook] synonym: "OXALIC ACID" EXACT [PDBeChem] synonym: "Oxalic acid" EXACT [KEGG_COMPOUND] synonym: "oxalic acid" EXACT IUPAC_NAME [IUPAC] synonym: "Oxalsaeure" RELATED [ChEBI] xref: Beilstein:385686 {source="Beilstein"} xref: CAS:144-62-7 {source="KEGG COMPOUND"} xref: CAS:144-62-7 {source="NIST Chemistry WebBook"} xref: CAS:144-62-7 {source="ChemIDplus"} xref: DrugBank:DB03902 xref: Gmelin:2208 {source="Gmelin"} xref: HMDB:HMDB0002329 xref: KEGG:C00209 xref: KNApSAcK:C00001198 xref: LIPID_MAPS_instance:LMFA01170031 {source="LIPID MAPS"} xref: MetaCyc:OXALATE xref: PDBeChem:OXD xref: PMID:15587083 {source="Europe PMC"} xref: PMID:22735334 {source="Europe PMC"} xref: Reaxys:385686 {source="Reaxys"} xref: Wikipedia:Oxalic_acid is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C2H2O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C2H2O4/c3-1(4)2(5)6/h(H,3,4)(H,5,6)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "MUBZPKHOEPUJKR-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "90.03490" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "89.99531" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)C(O)=O" xsd:string [Term] id: CHEBI:17002 name: cholesteryl ester namespace: chebi_ontology alt_id: CHEBI:13983 alt_id: CHEBI:23205 alt_id: CHEBI:3660 def: "A sterol ester obtained by formal condensation of the carboxy group of any carboxylic acid with the 3-hydroxy group of cholesterol." [] subset: 3_STAR synonym: "a cholesterol ester" RELATED [UniProt] synonym: "Cholesterol ester" RELATED [KEGG_COMPOUND] synonym: "cholesterol esters" RELATED [ChEBI] synonym: "cholesteryl esters" RELATED [ChEBI] xref: KEGG:C02530 xref: MeSH:D002788 xref: PMID:2474544 {source="Europe PMC"} xref: SNOMEDCT:73427004 is_a: CHEBI:35341 ! steroid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C28H45O2R" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "413.65570" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "413.34196" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]1(CC[C@@]2([H])[C@]3([H])CC=C4C[C@H](CC[C@]4(C)[C@@]3([H])CC[C@]12C)OC([*])=O)[C@H](C)CCCC(C)C" xsd:string [Term] id: CHEBI:17026 name: progesterone namespace: chebi_ontology alt_id: CHEBI:14896 alt_id: CHEBI:18798 alt_id: CHEBI:26269 alt_id: CHEBI:439 alt_id: CHEBI:45786 alt_id: CHEBI:8453 def: "A C21-steroid hormone in which a pregnane skeleton carries oxo substituents at positions 3 and 20 and is unsaturated at C(4)-C(5). As a hormone, it is involved in the female menstrual cycle, pregnancy and embryogenesis of humans and other species." [] subset: 3_STAR synonym: "(S)-4-Pregnene-3,20-dione" RELATED [KEGG_COMPOUND] synonym: "(S)-Pregn-4-en-3,20-dione" RELATED [KEGG_COMPOUND] synonym: "(S)-Progesterone" RELATED [KEGG_COMPOUND] synonym: "17alpha-progesterone" RELATED [NIST_Chemistry_WebBook] synonym: "4-Pregnene-3,20-dione" RELATED [KEGG_COMPOUND] synonym: "Agolutin" RELATED [NIST_Chemistry_WebBook] synonym: "Akrolutin" RELATED [ChEBI] synonym: "corpus luteum hormone" RELATED [ChemIDplus] synonym: "Crinone" RELATED [ChemIDplus] synonym: "Delta(4)-pregnene-3,20-dione" RELATED [ChEBI] synonym: "Gelbkoerperhormon" RELATED [ChEBI] synonym: "luteohormone" RELATED [ChemIDplus] synonym: "pregn-4-ene-3,20-dione" EXACT IUPAC_NAME [IUPAC] synonym: "Progesteron" RELATED [ChEBI] synonym: "PROGESTERONE" EXACT [PDBeChem] synonym: "Progesterone" EXACT [KEGG_COMPOUND] synonym: "progesterone" EXACT [UniProt] xref: Beilstein:1915950 {source="Beilstein"} xref: CAS:57-83-0 {source="KEGG COMPOUND"} xref: CAS:57-83-0 {source="ChemIDplus"} xref: CAS:57-83-0 {source="NIST Chemistry WebBook"} xref: Drug_Central:2279 {source="DrugCentral"} xref: DrugBank:DB00396 xref: Gmelin:708590 {source="Gmelin"} xref: HMDB:HMDB0001830 xref: KEGG:C00410 xref: KEGG:D00066 xref: MeSH:D011374 xref: MetaCyc:PROGESTERONE xref: NCIt:C2297 xref: PDBeChem:STR xref: PMID:10438974 {source="Europe PMC"} xref: PMID:9506942 {source="Europe PMC"} xref: Reaxys:1915950 {source="Reaxys"} xref: SNOMEDCT:16683002 xref: Wikipedia:Progesterone is_a: CHEBI:26764 ! steroid hormone relationship: has_role EFO:0001824 ! hormone role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C21H30O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C21H30O2/c1-13(22)17-6-7-18-16-5-4-14-12-15(23)8-10-20(14,2)19(16)9-11-21(17,18)3/h12,16-19H,4-11H2,1-3H3/t16-,17+,18-,19-,20-,21+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RJKFOVLPORLFTN-LEKSSAKUSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "314.46170" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "314.22458" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12CCC3=CC(=O)CC[C@]3(C)[C@@]1([H])CC[C@]1(C)[C@H](CC[C@@]21[H])C(C)=O" xsd:string [Term] id: CHEBI:17029 name: chitin namespace: chebi_ontology alt_id: CHEBI:13962 alt_id: CHEBI:23099 alt_id: CHEBI:3596 def: "An aminoglycan consisting of beta-(1->4)-linked N-acetyl-D-glucosamine residues." [] subset: 3_STAR synonym: "(1->4)-2-acetamido-2-deoxy-beta-D-glucan" EXACT IUPAC_NAME [IUPAC] synonym: "[1,4-(N-Acetyl-beta-D-glucosaminyl)]n" RELATED [KEGG_COMPOUND] synonym: "[4)-beta-D-GlcpNAc(1->]n" RELATED [IUPAC] synonym: "beta-1,4-Poly-N-acetyl-D-glucosamine" RELATED [KEGG_COMPOUND] synonym: "Chitin" EXACT [KEGG_COMPOUND] synonym: "chitin" EXACT [IUPAC] synonym: "chitin" EXACT [UniProt] xref: CAS:1398-61-4 {source="KEGG COMPOUND"} xref: KEGG:C00461 xref: KEGG:G10483 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "H2O(C8H13NO5)n" xsd:string [Term] id: CHEBI:17033 name: biliverdin namespace: chebi_ontology alt_id: CHEBI:13901 alt_id: CHEBI:13902 alt_id: CHEBI:22875 alt_id: CHEBI:3102 alt_id: CHEBI:41124 def: "A linear tetrapyrrole produced in the reticuloendothelial system by the first step of heme degradation, catalysed by heme oxygenase." [] subset: 3_STAR synonym: "8,12-bis(2-carboxyethyl)-2,7,13,17-tetramethyl-3,18-divinylbilin-1(19)(21H,24H)-dione" RELATED [JCBN] synonym: "Biliverdin" EXACT [KEGG_COMPOUND] synonym: "biliverdin" EXACT IUPAC_NAME [IUPAC] synonym: "Biliverdin IX alpha" RELATED [KEGG_COMPOUND] synonym: "Biliverdin IXalpha" RELATED [KEGG_COMPOUND] synonym: "Biliverdine" RELATED [ChemIDplus] synonym: "BILIVERDINE IX ALPHA" RELATED [PDBeChem] xref: Beilstein:74351 {source="Beilstein"} xref: CAS:114-25-0 {source="ChemIDplus"} xref: CAS:114-25-0 {source="KEGG COMPOUND"} xref: DrugBank:DB02073 xref: HMDB:HMDB0001008 xref: KEGG:C00500 xref: PDBeChem:BLA xref: PMID:14977878 {source="Europe PMC"} xref: PMID:19617398 {source="Europe PMC"} xref: Reaxys:74351 {source="Reaxys"} xref: Wikipedia:Biliverdin is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C33H34N4O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C33H34N4O6/c1-7-20-19(6)32(42)37-27(20)14-25-18(5)23(10-12-31(40)41)29(35-25)15-28-22(9-11-30(38)39)17(4)24(34-28)13-26-16(3)21(8-2)33(43)36-26/h7-8,13-15,35H,1-2,9-12H2,3-6H3,(H,36,43)(H,37,42)(H,38,39)(H,40,41)/b26-13-,27-14-,28-15-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QBUVFDKTZJNUPP-BBROENKCSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "582.64642" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "582.24783" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC1=C(CCC(O)=O)\\C(/N=C1/C=C1NC(=O)C(C=C)=C/1C)=C\\c1[nH]c(\\C=C2NC(=O)C(C)=C/2C=C)c(C)c1CCC(O)=O" xsd:string [Term] id: CHEBI:17050 name: 3-phosphoglyceric acid namespace: chebi_ontology alt_id: CHEBI:11882 alt_id: CHEBI:1659 alt_id: CHEBI:24345 alt_id: CHEBI:40016 def: "A monophosphoglyceric acid having the phospho group at the 3-position. It is an intermediate in metabolic pathways like glycolysis and calvin cycle." [] subset: 3_STAR synonym: "2-hydroxy-3-(phosphonooxy)propanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "3-(dihydrogen phosphate)Glycerate" RELATED [HMDB] synonym: "3-(dihydrogen phosphate)Glyceric acid" RELATED [HMDB] synonym: "3-Phosphoglycerate" RELATED [KEGG_COMPOUND] synonym: "3-phosphoglyceric acid" EXACT [UniProt] synonym: "DL-Glycerate 3-phosphate" RELATED [KEGG_COMPOUND] synonym: "Glycerate 3-phosphate" RELATED [KEGG_COMPOUND] synonym: "glycerate 3-phosphates" RELATED [ChEBI] synonym: "Glyceric acid 3-phosphate" RELATED [HMDB] xref: CAS:820-11-1 {source="ChemIDplus"} xref: Chemspider:704 xref: DrugBank:DB04510 xref: HMDB:HMDB0000807 xref: KEGG:C00597 xref: KNApSAcK:C00007286 xref: PMID:17439666 {source="Europe PMC"} xref: PMID:22735334 {source="Europe PMC"} xref: Reaxys:1726829 {source="Reaxys"} xref: Wikipedia:3-Phosphoglyceric_acid is_a: CHEBI:26020 ! phosphate property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H7O7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H7O7P/c4-2(3(5)6)1-10-11(7,8)9/h2,4H,1H2,(H,5,6)(H2,7,8,9)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OSJPPGNTCRNQQC-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "186.05724" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "185.99294" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(COP(O)(O)=O)C(O)=O" xsd:string [Term] id: CHEBI:17084 name: 2-hydroxyglutaric acid namespace: chebi_ontology alt_id: CHEBI:1160 def: "A 2-hydroxydicarboxylic acid that is glutaric acid in which one hydrogen alpha- to a carboxylic acid group is substituted by a hydroxy group." [] subset: 3_STAR synonym: "2-hydroxyglutaric acid" EXACT [ChemIDplus] synonym: "2-hydroxypentanedioic acid" EXACT IUPAC_NAME [IUPAC] synonym: "alpha-hydroxyglutaric acid" RELATED [ChEBI] xref: Beilstein:1723805 {source="Beilstein"} xref: CAS:2889-31-8 {source="KEGG COMPOUND"} xref: CAS:2889-31-8 {source="ChemIDplus"} xref: KEGG:C02630 xref: MetaCyc:2-HYDROXYGLUTARIC_ACID xref: PMID:17439666 {source="Europe PMC"} xref: Reaxys:1723805 {source="Reaxys"} xref: Wikipedia:Alpha-Hydroxyglutaric_acid is_a: CHEBI:18059 ! lipid is_a: EFO:0004416 ! acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H8O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H8O5/c6-3(5(9)10)1-2-4(7)8/h3,6H,1-2H2,(H,7,8)(H,9,10)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HWXBTNAVRSUOJR-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "148.11402" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "148.03717" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(CCC(O)=O)C(O)=O" xsd:string [Term] id: CHEBI:17089 name: glycoprotein namespace: chebi_ontology alt_id: CHEBI:14349 alt_id: CHEBI:5481 alt_id: CHEBI:5493 def: "A compound in which a carbohydrate component is covalently bound to a protein component." [] subset: 3_STAR synonym: "a glycoprotein" RELATED [UniProt] synonym: "glicoproteina" RELATED [ChEBI] synonym: "glicoproteinas" RELATED [ChEBI] synonym: "Glycoprotein" EXACT [KEGG_COMPOUND] synonym: "glycoproteine" RELATED [ChEBI] synonym: "glycoproteines" RELATED [ChEBI] synonym: "glycoproteins" EXACT IUPAC_NAME [IUPAC] synonym: "Glykoprotein" RELATED [ChEBI] synonym: "Glykoproteine" RELATED [ChEBI] xref: KEGG COMPOUND:C00326 xref: KEGG:C00326 xref: MeSH:D006023 xref: NCIt:C16642 xref: SNOMEDCT:59804006 is_a: CHEBI:36080 ! protein [Term] id: CHEBI:17113 name: erythritol namespace: chebi_ontology alt_id: CHEBI:14215 alt_id: CHEBI:23946 alt_id: CHEBI:372804 alt_id: CHEBI:44263 alt_id: CHEBI:4840 def: "The meso-diastereomer of butane-1,2,3,4-tetrol." [] subset: 3_STAR synonym: "(2R,3S)-butane-1,2,3,4-tetrol" RELATED [IUPAC] synonym: "Erythrit" RELATED [NIST_Chemistry_WebBook] synonym: "Erythrite" RELATED [KEGG_COMPOUND] synonym: "Erythritol" EXACT [KEGG_COMPOUND] synonym: "erythritol" EXACT [UniProt] synonym: "erythro-tetritol" RELATED [IUPAC] synonym: "Erythrol" RELATED [KEGG_COMPOUND] synonym: "L-erythritol" RELATED [ChEBI] synonym: "MESO-ERYTHRITOL" RELATED [PDBeChem] synonym: "meso-erythritol" EXACT IUPAC_NAME [IUPAC] synonym: "mesoerythritol" RELATED [ChemIDplus] synonym: "Phycite" RELATED [KEGG_COMPOUND] synonym: "Phycitol" RELATED [KEGG_COMPOUND] xref: Beilstein:1719753 {source="Beilstein"} xref: CAS:149-32-6 {source="ChemIDplus"} xref: CAS:149-32-6 {source="NIST Chemistry WebBook"} xref: CAS:149-32-6 {source="KEGG COMPOUND"} xref: DrugBank:DB04481 xref: Gmelin:82499 {source="Gmelin"} xref: HMDB:HMDB0002994 xref: KEGG:C00503 xref: KNApSAcK:C00001161 xref: MetaCyc:ERYTHRITOL xref: PDBeChem:MRY xref: PMCID:PMC9193570 {source="Europe PMC"} xref: PMID:12639570 {source="ChEMBL"} xref: PMID:163226 {source="Europe PMC"} xref: PMID:16901854 {source="Europe PMC"} xref: PMID:17336832 {source="Europe PMC"} xref: PMID:17979222 {source="Europe PMC"} xref: PMID:18369603 {source="Europe PMC"} xref: PMID:19632091 {source="Europe PMC"} xref: PMID:19804861 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: PMID:23421980 {source="Europe PMC"} xref: PMID:23574577 {source="Europe PMC"} xref: PMID:23890177 {source="Europe PMC"} xref: PMID:24643482 {source="Europe PMC"} xref: PMID:25108762 {source="Europe PMC"} xref: PMID:35289142 {source="Europe PMC"} xref: PMID:35364613 {source="Europe PMC"} xref: PMID:35575772 {source="Europe PMC"} xref: PMID:36276829 {source="Europe PMC"} xref: PMID:36354105 {source="Europe PMC"} xref: PMID:36478868 {source="Europe PMC"} xref: PMID:36547619 {source="Europe PMC"} xref: PMID:36615861 {source="Europe PMC"} xref: PMID:36849732 {source="Europe PMC"} xref: PMID:9862657 {source="Europe PMC"} xref: Reaxys:1735878 {source="Reaxys"} xref: Wikipedia:Erythritol is_a: CHEBI:16646 ! carbohydrate property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H10O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H10O4/c5-1-3(7)4(8)2-6/h3-8H,1-2H2/t3-,4+" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UNXHWFMMPAWVPI-ZXZARUISSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "122.11980" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "122.05791" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC[C@H](O)[C@H](O)CO" xsd:string [Term] id: CHEBI:1712 name: 3alpha-hydroxy-5beta-pregnan-20-one namespace: chebi_ontology alt_id: CHEBI:88767 def: "The 3alpha-stereoisomer of 3-hydroxy-5beta-pregnan-20-one." [] subset: 3_STAR synonym: "(3alpha,5beta)-3-hydroxypregnan-20-one" RELATED [NIST_Chemistry_WebBook] synonym: "1-[(1S,3aS,3bR,5aR,7R,9aS,9bS,11aS)-7-hydroxy-9a,11a-dimethylhexadecahydro-1H-cyclopenta[a]phenanthren-1-yl]ethanone" RELATED [IUPAC] synonym: "3alpha-hydroxy-5beta-pregnan-20-one" EXACT IUPAC_NAME [IUPAC] synonym: "3alpha-hydroxy-5beta-pregnan-20-one" EXACT [UniProt] synonym: "3alpha-Hydroxy-5beta-pregnane-20-one" RELATED [KEGG_COMPOUND] synonym: "eltanolona" RELATED INN [ChemIDplus] synonym: "eltanolone" RELATED INN [ChemIDplus] synonym: "eltanolonum" RELATED INN [ChemIDplus] synonym: "pregnan-3alpha-ol-20-one" RELATED [NIST_Chemistry_WebBook] synonym: "pregnanolone" RELATED [ChemIDplus] xref: Beilstein:3211364 {source="Beilstein"} xref: CAS:128-20-1 {source="NIST Chemistry WebBook"} xref: CAS:128-20-1 {source="ChemIDplus"} xref: Chemspider:29132 xref: Drug_Central:997 {source="DrugCentral"} xref: FooDB:FDB024063 xref: HMDB:HMDB0006759 xref: KEGG:C05480 xref: LIPID_MAPS_instance:LMST02030175 {source="LIPID MAPS"} xref: PDBeChem:P9N xref: PMID:10335907 {source="Europe PMC"} xref: PMID:10958114 {source="Europe PMC"} xref: PMID:14640542 {source="Europe PMC"} xref: PMID:15358441 {source="Europe PMC"} xref: PMID:15828844 {source="Europe PMC"} xref: PMID:15935549 {source="Europe PMC"} xref: PMID:16720657 {source="Europe PMC"} xref: PMID:23949204 {source="Europe PMC"} xref: PMID:25620274 {source="Europe PMC"} xref: PMID:27833556 {source="Europe PMC"} xref: PMID:28991263 {source="Europe PMC"} xref: PMID:33757421 {source="Europe PMC"} xref: PMID:33988248 {source="Europe PMC"} xref: PMID:8470788 {source="Europe PMC"} xref: PMID:9610934 {source="Europe PMC"} xref: PMID:9651164 {source="Europe PMC"} xref: Reaxys:3211364 {source="Reaxys"} xref: Wikipedia:Pregnanolone is_a: CHEBI:35341 ! steroid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C21H34O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C21H34O2/c1-13(22)17-6-7-18-16-5-4-14-12-15(23)8-10-20(14,2)19(16)9-11-21(17,18)3/h14-19,23H,4-12H2,1-3H3/t14-,15-,16+,17-,18+,19+,20+,21-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "AURFZBICLPNKBZ-YZRLXODZSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "318.501" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "318.25588" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]1(CC[C@@]2([H])[C@]3([H])CC[C@]4([H])C[C@H](O)CC[C@]4(C)[C@@]3([H])CC[C@]12C)C(C)=O" xsd:string [Term] id: CHEBI:17120 name: hexanoate namespace: chebi_ontology alt_id: CHEBI:14398 alt_id: CHEBI:24569 def: "A short-chain fatty acid anion that is the conjugate base of hexanoic acid (also known as caproic acid)." [] subset: 3_STAR synonym: "1-hexanoate" RELATED [ChEBI] synonym: "1-pentacarboxylate" RELATED [ChEBI] synonym: "1-pentanecarboxylate" RELATED [ChEBI] synonym: "butylacetate" RELATED [ChEBI] synonym: "caproate" RELATED [ChEBI] synonym: "capronate" RELATED [ChEBI] synonym: "CH3-[CH2]4-COO(-)" RELATED [IUPAC] synonym: "hexanoate" EXACT [UniProt] synonym: "hexanoate" EXACT IUPAC_NAME [IUPAC] synonym: "hexoate" RELATED [ChEBI] synonym: "hexylate" RELATED [ChEBI] synonym: "n-caproate" RELATED [ChEBI] synonym: "n-hexanoate" RELATED [ChEBI] synonym: "n-hexoate" RELATED [ChEBI] synonym: "n-hexylate" RELATED [ChEBI] synonym: "nPnCO2 anion" RELATED [NIST_Chemistry_WebBook] synonym: "pentanecarboxylate" RELATED [ChEBI] synonym: "pentylformate" RELATED [ChEBI] xref: Beilstein:3601453 {source="Beilstein"} xref: CAS:151-33-7 {source="Beilstein"} xref: ECMDB:ECMDB21229 xref: Gmelin:326340 {source="Gmelin"} xref: KEGG:C01585 xref: MetaCyc:HEXANOATE is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H11O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H12O2/c1-2-3-4-5-6(7)8/h2-5H2,1H3,(H,7,8)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FUZZWVXGSFPDMH-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "115.15034" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "115.07645" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCC([O-])=O" xsd:string [Term] id: CHEBI:17126 name: carnitine namespace: chebi_ontology alt_id: CHEBI:11817 alt_id: CHEBI:13947 alt_id: CHEBI:20047 alt_id: CHEBI:23038 def: "An amino-acid betaine that is butanoate substituted with a hydroxy group at position C-3 and a trimethylammonium group at C-4." [] subset: 3_STAR synonym: "3-hydroxy-4-(trimethylammonio)butanoate" EXACT IUPAC_NAME [IUPAC] synonym: "carnitine" EXACT [UniProt] synonym: "D,L-carnitine" RELATED [MetaCyc] xref: Beilstein:1866665 {source="Beilstein"} xref: CAS:461-06-3 {source="ChemIDplus"} xref: DrugBank:DB02648 xref: KEGG:C00487 xref: MetaCyc:DL-CARNITINE xref: Patent:US4255449 xref: Patent:US4315944 xref: PMID:22770225 {source="Europe PMC"} xref: PMID:23868375 {source="Europe PMC"} xref: Reaxys:1866665 {source="Reaxys"} xref: Wikipedia:Carnitine is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H15NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H15NO3/c1-8(2,3)5-6(9)4-7(10)11/h6,9H,4-5H2,1-3H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PHIQHXFUZVPYII-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "161.19894" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "161.10519" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[N+](C)(C)CC(O)CC([O-])=O" xsd:string [Term] id: CHEBI:17151 name: xylitol namespace: chebi_ontology alt_id: CHEBI:10078 alt_id: CHEBI:15328 alt_id: CHEBI:253147 alt_id: CHEBI:27339 alt_id: CHEBI:46522 alt_id: CHEBI:60939 def: "A pentitol (five-carbon sugar alcohol) having meso-configuration, being derived from xylose by reduction of the carbonyl group." [] subset: 3_STAR synonym: "(2R,3R,4S)-Pentane-1,2,3,4,5-pentaol" RELATED [ChEMBL] synonym: "(2R,3r,4S)-pentane-1,2,3,4,5-pentol" EXACT IUPAC_NAME [IUPAC] synonym: "D-XYLITOL" RELATED [PDBeChem] synonym: "L-xylitol" RELATED [ChEBI] synonym: "meso-xylitol" EXACT IUPAC_NAME [IUPAC] synonym: "Xylit" RELATED [ChEBI] synonym: "xylite" RELATED [NIST_Chemistry_WebBook] synonym: "Xylitol" EXACT [KEGG_COMPOUND] synonym: "xylitol" EXACT [UniProt] xref: Beilstein:1720523 {source="ChemIDplus"} xref: CAS:87-99-0 {source="NIST Chemistry WebBook"} xref: CAS:87-99-0 {source="ChemIDplus"} xref: CAS:87-99-0 {source="KEGG COMPOUND"} xref: Drug_Central:4604 {source="DrugCentral"} xref: DrugBank:DB01904 xref: Gmelin:82893 {source="Gmelin"} xref: HMDB:HMDB0002917 xref: KEGG:C00379 xref: KEGG:D00061 xref: MetaCyc:XYLITOL xref: PDBeChem:XYL xref: PMID:11154411 {source="Europe PMC"} xref: PMID:11163479 {source="Europe PMC"} xref: PMID:12061879 {source="ChEMBL"} xref: PMID:15377394 {source="Europe PMC"} xref: PMID:16708791 {source="Europe PMC"} xref: PMID:16901854 {source="Europe PMC"} xref: PMID:17216457 {source="Europe PMC"} xref: PMID:17216458 {source="Europe PMC"} xref: PMID:17336832 {source="Europe PMC"} xref: PMID:17979222 {source="Europe PMC"} xref: PMID:18316079 {source="Europe PMC"} xref: PMID:20030329 {source="Europe PMC"} xref: PMID:22735334 {source="Europe PMC"} xref: PMID:22791282 {source="Europe PMC"} xref: PMID:23247825 {source="Europe PMC"} xref: PMID:23287496 {source="Europe PMC"} xref: PMID:23338824 {source="Europe PMC"} xref: PMID:23589387 {source="Europe PMC"} xref: PMID:23597921 {source="Europe PMC"} xref: PMID:23615861 {source="Europe PMC"} xref: PMID:23796483 {source="Europe PMC"} xref: PMID:23916161 {source="Europe PMC"} xref: PMID:23957303 {source="Europe PMC"} xref: PMID:24012734 {source="Europe PMC"} xref: PMID:24643482 {source="Europe PMC"} xref: PMID:25108762 {source="Europe PMC"} xref: Reaxys:1720523 {source="Reaxys"} xref: Wikipedia:Xylitol is_a: CHEBI:16646 ! carbohydrate property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H12O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H12O5/c6-1-3(8)5(10)4(9)2-7/h3-10H,1-2H2/t3-,4+,5+" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HEBKCHPVOIAQTA-SCDXWVJYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "152.14580" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "152.06847" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC[C@H](O)[C@@H](O)[C@H](O)CO" xsd:string [Term] id: CHEBI:17154 name: nicotinamide namespace: chebi_ontology alt_id: CHEBI:14645 alt_id: CHEBI:25521 alt_id: CHEBI:44258 alt_id: CHEBI:7556 def: "A pyridinecarboxamide that is pyridine in which the hydrogen at position 3 is replaced by a carboxamide group." [] subset: 3_STAR synonym: "3-carbamoylpyridine" RELATED [ChemIDplus] synonym: "3-pyridinecarboxamide" RELATED [NIST_Chemistry_WebBook] synonym: "beta-pyridinecarboxamide" RELATED [ChemIDplus] synonym: "beta-pyridinecarboxamide" RELATED [NIST_Chemistry_WebBook] synonym: "m-(aminocarbonyl)pyridine" RELATED [ChemIDplus] synonym: "niacin" RELATED [ChEBI] synonym: "Niacinamide" RELATED [KEGG_COMPOUND] synonym: "niamide" RELATED [ChemIDplus] synonym: "Nicotinamid" RELATED [ChEBI] synonym: "nicotinamida" RELATED INN [WHO_MedNet] synonym: "nicotinamide" EXACT [UniProt] synonym: "nicotinamide" RELATED INN [WHO_MedNet] synonym: "nicotinamidum" RELATED INN [WHO_MedNet] synonym: "nicotine acid amide" RELATED [ChemIDplus] synonym: "nicotine amide" RELATED [ChemIDplus] synonym: "nicotinic acid amide" RELATED [ChemIDplus] synonym: "nicotinic amide" RELATED [ChemIDplus] synonym: "Nicotinsaeureamid" RELATED [ChEBI] synonym: "nicotylamide" RELATED [ChemIDplus] synonym: "Nikotinamid" RELATED [ChemIDplus] synonym: "Nikotinsaeureamid" RELATED [ChEBI] synonym: "pyridine-3-carboxamide" EXACT IUPAC_NAME [IUPAC] synonym: "pyridine-3-carboxylic acid amide" RELATED [ChemIDplus] synonym: "vitamin B3" RELATED [ChemIDplus] synonym: "Vitamin PP" RELATED [KEGG_COMPOUND] xref: Beilstein:383619 {source="Beilstein"} xref: CAS:98-92-0 {source="ChemIDplus"} xref: CAS:98-92-0 {source="NIST Chemistry WebBook"} xref: CAS:98-92-0 {source="KEGG COMPOUND"} xref: Drug_Central:1906 {source="DrugCentral"} xref: DrugBank:DB02701 xref: FooDB:FDB012485 xref: Gmelin:3336 {source="Gmelin"} xref: HMDB:HMDB0001406 xref: KEGG:C00153 xref: KEGG:D00036 xref: KNApSAcK:C00000209 xref: LINCS:LSM-5428 xref: MetaCyc:NIACINAMIDE xref: Patent:US2904552 xref: Patent:US2993051 xref: PDBeChem:NCA xref: PMID:10884473 {source="Europe PMC"} xref: PMID:11355130 {source="Europe PMC"} xref: PMID:11814060 {source="Europe PMC"} xref: PMID:12014919 {source="Europe PMC"} xref: PMID:12487919 {source="Europe PMC"} xref: PMID:12519385 {source="Europe PMC"} xref: PMID:12709297 {source="Europe PMC"} xref: PMID:12782109 {source="Europe PMC"} xref: PMID:12890690 {source="Europe PMC"} xref: PMID:14729974 {source="Europe PMC"} xref: PMID:14757966 {source="Europe PMC"} xref: PMID:14871431 {source="Europe PMC"} xref: PMID:15497767 {source="Europe PMC"} xref: PMID:15563975 {source="Europe PMC"} xref: PMID:15780941 {source="Europe PMC"} xref: PMID:15807725 {source="Europe PMC"} xref: PMID:15834926 {source="Europe PMC"} xref: PMID:15995937 {source="Europe PMC"} xref: PMID:16029679 {source="Europe PMC"} xref: PMID:16209160 {source="Europe PMC"} xref: PMID:16596767 {source="Europe PMC"} xref: PMID:16766489 {source="Europe PMC"} xref: PMID:16871361 {source="Europe PMC"} xref: PMID:17021258 {source="Europe PMC"} xref: PMID:17129213 {source="Europe PMC"} xref: PMID:18234191 {source="Europe PMC"} xref: PMID:18316796 {source="Europe PMC"} xref: PMID:18368629 {source="Europe PMC"} xref: PMID:18373238 {source="Europe PMC"} xref: PMID:18389009 {source="Europe PMC"} xref: PMID:18514428 {source="Europe PMC"} xref: PMID:18930755 {source="Europe PMC"} xref: PMID:18987186 {source="Europe PMC"} xref: PMID:19212411 {source="Europe PMC"} xref: PMID:19539713 {source="Europe PMC"} xref: PMID:19544437 {source="Europe PMC"} xref: PMID:2026685 {source="Europe PMC"} xref: PMID:21503886 {source="Europe PMC"} xref: PMID:21891976 {source="Europe PMC"} xref: PMID:21918528 {source="Europe PMC"} xref: PMID:21926578 {source="Europe PMC"} xref: PMID:22067079 {source="Europe PMC"} xref: PMID:22160932 {source="Europe PMC"} xref: PMID:22207684 {source="Europe PMC"} xref: PMID:22232263 {source="Europe PMC"} xref: PMID:22281243 {source="Europe PMC"} xref: PMID:22359146 {source="Europe PMC"} xref: PMID:22361740 {source="Europe PMC"} xref: PMID:22407380 {source="Europe PMC"} xref: PMID:22456321 {source="Europe PMC"} xref: PMID:22536229 {source="Europe PMC"} xref: PMID:22543086 {source="Europe PMC"} xref: PMID:22626821 {source="Europe PMC"} xref: PMID:22699421 {source="Europe PMC"} xref: PMID:22709272 {source="Europe PMC"} xref: PMID:22763693 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: PMID:23016598 {source="Europe PMC"} xref: PMID:23028781 {source="Europe PMC"} xref: PMID:23043891 {source="Europe PMC"} xref: PMID:23047329 {source="Europe PMC"} xref: PMID:24027187 {source="Europe PMC"} xref: PMID:24077178 {source="Europe PMC"} xref: PMID:24559077 {source="Europe PMC"} xref: PMID:24635573 {source="Europe PMC"} xref: PMID:25504347 {source="Europe PMC"} xref: PMID:25561219 {source="Europe PMC"} xref: PMID:31710686 {source="Europe PMC"} xref: PMID:32249824 {source="Europe PMC"} xref: PMID:33196157 {source="Europe PMC"} xref: PMID:33471934 {source="Europe PMC"} xref: PMID:8620561 {source="Europe PMC"} xref: PMID:8767167 {source="Europe PMC"} xref: PMID:9518388 {source="Europe PMC"} xref: Reaxys:383619 {source="Reaxys"} xref: Wikipedia:Nicotinamide is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H6N2O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H6N2O/c7-6(9)5-2-1-3-8-4-5/h1-4H,(H2,7,9)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DFPAKSUCGFBDDF-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "122.12472" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "122.04801" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NC(=O)c1cccnc1" xsd:string [Term] id: CHEBI:17158 name: methylglyoxal namespace: chebi_ontology alt_id: CHEBI:11643 alt_id: CHEBI:14599 alt_id: CHEBI:25303 alt_id: CHEBI:6875 def: "A 2-oxo aldehyde derived from propanal." [] subset: 3_STAR synonym: "1,2-propanedione" RELATED [NIST_Chemistry_WebBook] synonym: "2-Ketopropionaldehyde" RELATED [KEGG_COMPOUND] synonym: "2-Oxopropanal" RELATED [KEGG_COMPOUND] synonym: "2-oxopropanal" EXACT IUPAC_NAME [IUPAC] synonym: "2-oxopropionaldehyde" RELATED [ChemIDplus] synonym: "acetylformaldehyde" RELATED [ChemIDplus] synonym: "acetylformyl" RELATED [NIST_Chemistry_WebBook] synonym: "alpha-ketopropionaldehyde" RELATED [NIST_Chemistry_WebBook] synonym: "CH3COCHO" RELATED [NIST_Chemistry_WebBook] synonym: "Methylglyoxal" EXACT [KEGG_COMPOUND] synonym: "methylglyoxal" EXACT [UniProt] synonym: "Pyruvaldehyde" RELATED [KEGG_COMPOUND] synonym: "Pyruvic aldehyde" RELATED [KEGG_COMPOUND] xref: Beilstein:906750 {source="Beilstein"} xref: CAS:78-98-8 {source="ChemIDplus"} xref: CAS:78-98-8 {source="NIST Chemistry WebBook"} xref: CAS:78-98-8 {source="KEGG COMPOUND"} xref: KEGG:C00546 xref: KNApSAcK:C00007562 xref: PMID:10373458 {source="Europe PMC"} xref: PMID:10723098 {source="Europe PMC"} xref: PMID:11504881 {source="Europe PMC"} xref: PMID:15520007 {source="Europe PMC"} xref: PMID:17103372 {source="Europe PMC"} xref: PMID:19202315 {source="Europe PMC"} xref: PMID:20096340 {source="Europe PMC"} xref: PMID:22983866 {source="Europe PMC"} xref: PMID:23543734 {source="Europe PMC"} xref: PMID:23845007 {source="Europe PMC"} xref: PMID:24040205 {source="Europe PMC"} xref: PMID:24168114 {source="Europe PMC"} xref: PMID:26861824 {source="Europe PMC"} xref: PMID:9506998 {source="Europe PMC"} xref: Reaxys:906750 {source="Reaxys"} xref: Wikipedia:Methylglyoxal is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H4O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H4O2/c1-3(5)2-4/h2H,1H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "AIJULSRZWUXGPQ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "72.06266" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "72.02113" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H]C(=O)C(C)=O" xsd:string [Term] id: CHEBI:17160 name: 17alpha-estradiol namespace: chebi_ontology alt_id: CHEBI:14217 alt_id: CHEBI:23961 alt_id: CHEBI:4862 def: "An estradiol that is estra-1,3,5(10)-triene substituted by hydroxy groups at positions 3 and 17 (the 17alpha stereoisomer)." [] subset: 3_STAR synonym: "(17alpha)-estra-1,3,5(10)-triene-3,17-diol" RELATED [ChEBI] synonym: "1,3,5-estratriene-3,17alpha-diol" RELATED [ChEBI] synonym: "13beta-methyl-1,3,5(10)-gonatriene-3,17alpha-diol" RELATED [HMDB] synonym: "17-epiestradiol" RELATED [HMDB] synonym: "17alpha-Estradiol" EXACT [KEGG_COMPOUND] synonym: "17alpha-estradiol" EXACT [UniProt] synonym: "17alpha-oestradiol" RELATED [ChEBI] synonym: "3,17alpha-dihydroxyestra-1,3,5(10)-triene" RELATED [HMDB] synonym: "3,17alpha-dihydroxyoestra-1,3,5(10)-triene" RELATED [ChEBI] synonym: "alfatradiol" RELATED INN [WHO_MedNet] synonym: "alfatradiolum" RELATED INN [WHO_MedNet] synonym: "alpha-estradiol" RELATED [ChemIDplus] synonym: "epiestradiol" RELATED [ChemIDplus] synonym: "epiestrol" RELATED [HMDB] synonym: "estra-1,3,5(10)-triene-3,17alpha-diol" EXACT IUPAC_NAME [IUPAC] synonym: "estra-1,3,5(10)-triene-3,17alpha-diol" RELATED [ChEBI] synonym: "estra-1,3,5(10)trien-3,17alpha-diol" RELATED [ChEBI] synonym: "Estradiol-17alpha" RELATED [KEGG_COMPOUND] synonym: "oestra-1,3,5(10)-triene-3,17alpha-diol" RELATED [HMDB] xref: Beilstein:2698044 {source="ChemIDplus"} xref: CAS:57-91-0 {source="KEGG COMPOUND"} xref: CAS:57-91-0 {source="ChemIDplus"} xref: CAS:57-91-0 {source="NIST Chemistry WebBook"} xref: ChEMBL:149018 xref: ChemIDplus:2698044 xref: ChemIDplus:57-91-0 xref: Chemspider:61840 xref: FooDB:FDB011524 xref: Gmelin:2190991 {source="Gmelin"} xref: HMDB:HMDB0000429 xref: KEGG COMPOUND:57-91-0 xref: KEGG COMPOUND:C02537 xref: KEGG:C02537 xref: KEGG:D07121 xref: LINCS:LSM-36371 xref: LIPID_MAPS_instance:LMST02010029 {source="LIPID MAPS"} xref: MetaCyc:CPD-351 xref: NIST Chemistry WebBook:57-91-0 xref: PMID:10533159 {source="Europe PMC"} xref: PMID:10977945 {source="Europe PMC"} xref: PMID:11379378 {source="Europe PMC"} xref: PMID:11410806 {source="Europe PMC"} xref: PMID:12115026 {source="Europe PMC"} xref: PMID:12234624 {source="Europe PMC"} xref: PMID:15698550 {source="Europe PMC"} xref: PMID:15947006 {source="Europe PMC"} xref: PMID:16042770 {source="Europe PMC"} xref: PMID:1810267 {source="Europe PMC"} xref: PMID:18644750 {source="Europe PMC"} xref: PMID:19093730 {source="Europe PMC"} xref: PMID:1920120 {source="Europe PMC"} xref: PMID:20451236 {source="Europe PMC"} xref: PMID:22581453 {source="Europe PMC"} xref: PMID:24245565 {source="Europe PMC"} xref: PMID:24564600 {source="Europe PMC"} xref: PMID:28877759 {source="Europe PMC"} xref: PMID:7925599 {source="Europe PMC"} xref: PMID:9457484 {source="Europe PMC"} xref: Wikipedia:17%CE%B1-Estradiol is_a: CHEBI:23965 ! estradiol relationship: has_role CHEBI:26764 ! steroid hormone property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H24O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H24O2/c1-18-9-8-14-13-5-3-12(19)10-11(13)2-4-15(14)16(18)6-7-17(18)20/h3,5,10,14-17,19-20H,2,4,6-9H2,1H3/t14-,15-,16+,17-,18+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VOXZDWNPVJITMN-SFFUCWETSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "272.38196" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "272.17763" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]12CC[C@]3(C)[C@H](O)CC[C@@]3([H])[C@]1([H])CCc1cc(O)ccc21" xsd:string [Term] id: CHEBI:17202 name: IMP namespace: chebi_ontology alt_id: CHEBI:12057 alt_id: CHEBI:12063 alt_id: CHEBI:13372 alt_id: CHEBI:13373 alt_id: CHEBI:14457 alt_id: CHEBI:19271 alt_id: CHEBI:43418 alt_id: CHEBI:43475 alt_id: CHEBI:43524 alt_id: CHEBI:43563 alt_id: CHEBI:43611 alt_id: CHEBI:47501 alt_id: CHEBI:5849 def: "A purine ribonucleoside 5'-monophosphate having hypoxanthine as the nucleobase." [] subset: 3_STAR synonym: "2'-inosine-5'-monophosphate" RELATED [ChEBI] synonym: "5'-IMP" RELATED [KEGG_COMPOUND] synonym: "5'-Inosinate" RELATED [KEGG_COMPOUND] synonym: "5'-Inosine monophosphate" RELATED [KEGG_COMPOUND] synonym: "5'-Inosinic acid" RELATED [KEGG_COMPOUND] synonym: "5'-inosinic acid" EXACT IUPAC_NAME [IUPAC] synonym: "hypoxanthosine 5'-monophosphate" RELATED [ChEBI] synonym: "IMP" EXACT [KEGG_COMPOUND] synonym: "Inosine 5'-monophosphate" RELATED [KEGG_COMPOUND] synonym: "Inosine 5'-phosphate" RELATED [KEGG_COMPOUND] synonym: "Inosine monophosphate" RELATED [KEGG_COMPOUND] synonym: "Inosinic acid" RELATED [KEGG_COMPOUND] synonym: "inosinic acid" RELATED [PDBeChem] synonym: "ribosylhypoxanthine monophosphate" RELATED [MetaCyc] xref: Beilstein:630517 {source="Beilstein"} xref: CAS:131-99-7 {source="ChemIDplus"} xref: CAS:131-99-7 {source="KEGG COMPOUND"} xref: DrugBank:DB04566 xref: Gmelin:528845 {source="Gmelin"} xref: HMDB:HMDB0000175 xref: KEGG:C00130 xref: KNApSAcK:C00007224 xref: MetaCyc:IMP xref: PDBeChem:IMP xref: PMID:7877593 {source="Europe PMC"} xref: Reaxys:630517 {source="Reaxys"} xref: Wikipedia:Inosinic_acid is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:26020 ! phosphate property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H13N4O8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H13N4O8P/c15-6-4(1-21-23(18,19)20)22-10(7(6)16)14-3-13-5-8(14)11-2-12-9(5)17/h2-4,6-7,10,15-16H,1H2,(H,11,12,17)(H2,18,19,20)/t4-,6-,7-,10-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GRSZFWQUAKGDAV-KQYNXXCUSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "348.20600" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "348.04710" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O[C@@H]1[C@@H](COP(O)(O)=O)O[C@H]([C@@H]1O)n1cnc2c1nc[nH]c2=O" xsd:string [Term] id: CHEBI:17203 name: L-proline namespace: chebi_ontology alt_id: CHEBI:13154 alt_id: CHEBI:184637 alt_id: CHEBI:21373 alt_id: CHEBI:42067 alt_id: CHEBI:45040 alt_id: CHEBI:45100 alt_id: CHEBI:45159 alt_id: CHEBI:6286 def: "Pyrrolidine in which the pro-S hydrogen at position 2 is substituted by a carboxylic acid group. L-Proline is the only one of the twenty DNA-encoded amino acids which has a secondary amino group alpha to the carboxyl group. It is an essential component of collagen and is important for proper functioning of joints and tendons. It also helps maintain and strengthen heart muscles." [] subset: 3_STAR synonym: "(-)-(S)-proline" RELATED [NIST_Chemistry_WebBook] synonym: "(-)-2-pyrrolidinecarboxylic acid" RELATED [ChemIDplus] synonym: "(-)-proline" RELATED [ChemIDplus] synonym: "(2S)-pyrrolidine-2-carboxylic acid" RELATED [IUPAC] synonym: "(S)-2-carboxypyrrolidine" RELATED [DrugBank] synonym: "(S)-2-pyrrolidinecarboxylic acid" RELATED [ChemIDplus] synonym: "(S)-pyrrolidine-2-carboxylic acid" RELATED [ChEBI] synonym: "2-Pyrrolidinecarboxylic acid" RELATED [KEGG_COMPOUND] synonym: "L-(-)-proline" RELATED [NIST_Chemistry_WebBook] synonym: "L-alpha-pyrrolidinecarboxylic acid" RELATED [ChemIDplus] synonym: "L-Prolin" RELATED [ChEBI] synonym: "L-Proline" EXACT [KEGG_COMPOUND] synonym: "L-proline" EXACT IUPAC_NAME [IUPAC] synonym: "L-pyrrolidine-2-carboxylic acid" RELATED [ChemIDplus] synonym: "P" RELATED [ChEBI] synonym: "prolina" RELATED [ChemIDplus] synonym: "PROLINE" RELATED [PDBeChem] synonym: "proline" RELATED INN [ChemIDplus] synonym: "prolinum" RELATED [ChemIDplus] xref: Beilstein:80810 {source="Beilstein"} xref: CAS:147-85-3 {source="NIST Chemistry WebBook"} xref: CAS:147-85-3 {source="ChemIDplus"} xref: CAS:147-85-3 {source="KEGG COMPOUND"} xref: ChemIDplus:147-85-3 xref: CiteXplore:11076505 xref: CiteXplore:12770004 xref: CiteXplore:14975886 xref: CiteXplore:15576824 xref: CiteXplore:15838615 xref: CiteXplore:15894682 xref: CiteXplore:15973048 xref: CiteXplore:16033917 xref: CiteXplore:16190672 xref: CiteXplore:16501220 xref: CiteXplore:16656443 xref: CiteXplore:16657874 xref: CiteXplore:16668324 xref: CiteXplore:17127472 xref: CiteXplore:17608428 xref: CiteXplore:18551589 xref: CiteXplore:18802692 xref: CiteXplore:18973300 xref: CiteXplore:19215998 xref: CiteXplore:19580280 xref: CiteXplore:19656302 xref: CiteXplore:19688381 xref: CiteXplore:19811425 xref: CiteXplore:22139509 xref: CiteXplore:22201772 xref: CiteXplore:22451406 xref: CiteXplore:22475019 xref: CiteXplore:22482728 xref: CiteXplore:22491679 xref: Drug_Central:4125 {source="DrugCentral"} xref: DrugBank:DB00172 xref: Gmelin:50152 {source="Gmelin"} xref: HMDB:HMDB0000162 xref: HMDB:HMDB00162 xref: KEGG COMPOUND:147-85-3 xref: KEGG COMPOUND:C00148 xref: KEGG DRUG:D00035 xref: KEGG:C00148 xref: KEGG:D00035 xref: KNApSAcK:C00001388 xref: MeSH:D011392 xref: MetaCyc:PRO xref: NCIt:C29612 xref: NIST Chemistry WebBook:147-85-3 xref: PDBeChem:PRO xref: PMID:11076505 {source="Europe PMC"} xref: PMID:12770004 {source="Europe PMC"} xref: PMID:14975886 {source="Europe PMC"} xref: PMID:15576824 {source="Europe PMC"} xref: PMID:15838615 {source="Europe PMC"} xref: PMID:15894682 {source="Europe PMC"} xref: PMID:15973048 {source="Europe PMC"} xref: PMID:16033917 {source="Europe PMC"} xref: PMID:16190672 {source="Europe PMC"} xref: PMID:16501220 {source="Europe PMC"} xref: PMID:16656443 {source="Europe PMC"} xref: PMID:16657874 {source="Europe PMC"} xref: PMID:16668324 {source="Europe PMC"} xref: PMID:17127472 {source="Europe PMC"} xref: PMID:17608428 {source="Europe PMC"} xref: PMID:18551589 {source="Europe PMC"} xref: PMID:18802692 {source="Europe PMC"} xref: PMID:18973300 {source="Europe PMC"} xref: PMID:19215998 {source="Europe PMC"} xref: PMID:19580280 {source="Europe PMC"} xref: PMID:19656302 {source="Europe PMC"} xref: PMID:19688381 {source="Europe PMC"} xref: PMID:19811425 {source="Europe PMC"} xref: PMID:22139509 {source="Europe PMC"} xref: PMID:22201772 {source="Europe PMC"} xref: PMID:22451406 {source="Europe PMC"} xref: PMID:22475019 {source="Europe PMC"} xref: PMID:22482728 {source="Europe PMC"} xref: PMID:22491679 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: Reaxys:80810 {source="Reaxys"} xref: SNOMEDCT:257972000 xref: SNOMEDCT:421542006 xref: SNOMEDCT:421824005 xref: SNOMEDCT:52541003 xref: Wikipedia:L-proline is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H9NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H9NO2/c7-5(8)4-2-1-3-6-4/h4,6H,1-3H2,(H,7,8)/t4-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ONIBWKKTOPOVIA-BYPYZUCNSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "115.13050" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "115.06333" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)[C@@H]1CCCN1" xsd:string [Term] id: CHEBI:17221 name: beta-myrcene namespace: chebi_ontology alt_id: CHEBI:14635 alt_id: CHEBI:22849 alt_id: CHEBI:25452 alt_id: CHEBI:7052 def: "A monoterpene that is octa-1,6-diene bearing methylene and methyl substituents at positions 3 and 7 respectively." [] subset: 3_STAR synonym: "7-methyl-3-methylene-1,6-octadiene" RELATED [NIST_Chemistry_WebBook] synonym: "7-methyl-3-methyleneocta-1,6-diene" RELATED [IUBMB] synonym: "7-methyl-3-methylideneocta-1,6-diene" EXACT IUPAC_NAME [IUPAC] synonym: "beta-Myrcene" EXACT [KEGG_COMPOUND] synonym: "beta-myrcene" EXACT [UniProt] synonym: "Myrcene" RELATED [KEGG_COMPOUND] xref: Beilstein:1719990 {source="ChemIDplus"} xref: CAS:123-35-3 {source="ChemIDplus"} xref: CAS:123-35-3 {source="NIST Chemistry WebBook"} xref: CAS:123-35-3 {source="KEGG COMPOUND"} xref: Gmelin:279258 {source="Gmelin"} xref: HMDB:HMDB0038169 xref: KEGG:C06074 xref: KNApSAcK:C00000853 xref: LIPID_MAPS_instance:LMPR0102010005 {source="LIPID MAPS"} xref: MeSH:C509595 xref: MetaCyc:CPD-4888 xref: NCIt:C72219 xref: NCIt:C95164 xref: PMID:15299125 {source="Europe PMC"} xref: PMID:25280163 {source="Europe PMC"} xref: PMID:25503374 {source="Europe PMC"} xref: PMID:25622554 {source="Europe PMC"} xref: PMID:25909988 {source="Europe PMC"} xref: PMID:27439360 {source="Europe PMC"} xref: PMID:9268308 {source="Europe PMC"} xref: Reaxys:1719990 {source="Reaxys"} xref: Wikipedia:Myrcene is_a: CHEBI:35186 ! terpene property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H16" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H16/c1-5-10(4)8-6-7-9(2)3/h5,7H,1,4,6,8H2,2-3H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UAHWPYUMFXYFJY-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "136.23400" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "136.12520" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)=CCCC(=C)C=C" xsd:string [Term] id: CHEBI:17230 name: homocysteine namespace: chebi_ontology alt_id: CHEBI:14408 alt_id: CHEBI:5751 def: "A sulfur-containing amino acid consisting of a glycine core with a 2-mercaptoethyl side-chain." [] subset: 3_STAR synonym: "2-Amino-4-mercaptobutyric acid" RELATED [KEGG_COMPOUND] synonym: "2-amino-4-sulfanylbutanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "Hcy" RELATED [IUPAC] synonym: "Homocysteine" EXACT [KEGG_COMPOUND] synonym: "homocysteine" EXACT IUPAC_NAME [IUPAC] xref: HMDB:HMDB0000742 xref: KEGG COMPOUND:C05330 xref: KEGG:C05330 xref: MeSH:D006710 xref: NCIt:C105949 xref: PMID:11133260 {source="Europe PMC"} xref: PMID:16596805 {source="Europe PMC"} xref: PMID:18370634 {source="Europe PMC"} xref: SNOMEDCT:102747008 xref: Wikipedia:Homocysteine is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H9NO2S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H9NO2S/c5-3(1-2-8)4(6)7/h3,8H,1-2,5H2,(H,6,7)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FFFHZYDWPBMWHY-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "135.18580" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "135.03540" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NC(CCS)C(O)=O" xsd:string [Term] id: CHEBI:17234 name: glucose namespace: chebi_ontology alt_id: CHEBI:14313 alt_id: CHEBI:24277 alt_id: CHEBI:33929 alt_id: CHEBI:5418 def: "An aldohexose used as a source of energy and metabolic intermediate." [] subset: 3_STAR synonym: "DL-glucose" RELATED [ChEBI] synonym: "Glc" RELATED [JCBN] synonym: "gluco-hexose" EXACT IUPAC_NAME [IUPAC] synonym: "Glucose" EXACT [KEGG_COMPOUND] synonym: "glucose" EXACT IUPAC_NAME [IUPAC] synonym: "Glukose" RELATED [ChEBI] xref: CAS:50-99-7 {source="KEGG COMPOUND"} xref: KEGG:C00293 xref: MeSH:D005947 xref: NCIt:C2831 xref: SNOMEDCT:67079006 xref: Wikipedia:Glucose is_a: CHEBI:16646 ! carbohydrate property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H12O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "180.15588" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "180.06339" xsd:string [Term] id: CHEBI:17243 name: mono(2-ethylhexyl) phthalate namespace: chebi_ontology alt_id: CHEBI:1094 alt_id: CHEBI:11575 def: "The mono(2-ethylhexyl) ester of benzene-1,2-dicarboxylic acid." [] subset: 3_STAR synonym: "(2-ethylhexyl) hydrogen phthalate" RELATED [ChemIDplus] synonym: "1,2-benzenedicarboxylic acid, mono(2-ethylhexyl) ester" RELATED [NIST_Chemistry_WebBook] synonym: "2-(2-ethylhexyloxycarbonyl)benzoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "2-([(2-ethylhexyl)oxy]carbonyl)benzoic acid" RELATED [NIST_Chemistry_WebBook] synonym: "2-ethylhexyl hydrogen phthalate" RELATED [ChemIDplus] synonym: "2-Ethylhexyl phthalate" RELATED [KEGG_COMPOUND] synonym: "MEHP" RELATED [NIST_Chemistry_WebBook] synonym: "mono(2-ethylhexyl)phthalate" RELATED [ChemIDplus] synonym: "mono-(2-ethylhexyl)phthalate" RELATED [ChemIDplus] synonym: "mono-2-ethylhexyl phthalate" RELATED [ChemIDplus] synonym: "monoethylhexyl phthalate" RELATED [ChemIDplus] synonym: "phthalic acid, 2-ethylhexyl ester" RELATED [ChemIDplus] xref: Beilstein:3206630 {source="Beilstein"} xref: CAS:4376-20-9 {source="ChemIDplus"} xref: CAS:4376-20-9 {source="NIST Chemistry WebBook"} xref: KEGG:C03343 xref: LINCS:LSM-36855 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C16H22O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C16H22O4/c1-3-5-8-12(4-2)11-20-16(19)14-10-7-6-9-13(14)15(17)18/h6-7,9-10,12H,3-5,8,11H2,1-2H3,(H,17,18)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DJDSLBVSSOQSLW-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "278.34348" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "278.15181" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCC(CC)COC(=O)c1ccccc1C(O)=O" xsd:string [Term] id: CHEBI:17245 name: carbon monoxide namespace: chebi_ontology alt_id: CHEBI:13281 alt_id: CHEBI:23013 alt_id: CHEBI:3282 alt_id: CHEBI:41526 def: "A one-carbon compound in which the carbon is joined only to a single oxygen. It is a colourless, odourless, tasteless, toxic gas." [] subset: 3_STAR synonym: "[CO]" RELATED [MolBase] synonym: "C#O" RELATED [ChEBI] synonym: "carbon monooxide" EXACT IUPAC_NAME [IUPAC] synonym: "CARBON MONOXIDE" EXACT [PDBeChem] synonym: "Carbon monoxide" EXACT [KEGG_COMPOUND] synonym: "carbon monoxide" EXACT IUPAC_NAME [IUPAC] synonym: "carbon(II) oxide" EXACT IUPAC_NAME [IUPAC] synonym: "CO" RELATED [UniProt] synonym: "CO" RELATED [KEGG_COMPOUND] xref: Beilstein:1900508 {source="Beilstein"} xref: Beilstein:3535285 {source="Beilstein"} xref: Beilstein:3587264 {source="Beilstein"} xref: CAS:630-08-0 {source="KEGG COMPOUND"} xref: CAS:630-08-0 {source="ChemIDplus"} xref: CAS:630-08-0 {source="NIST Chemistry WebBook"} xref: Gmelin:421 {source="Gmelin"} xref: HMDB:HMDB0001361 xref: KEGG:C00237 xref: KEGG:D09706 xref: MeSH:D002248 xref: MetaCyc:CARBON-MONOXIDE xref: MolBase:753 xref: NCIt:C76742 xref: PDBeChem:CMO xref: PMID:10085152 {source="Europe PMC"} xref: PMID:10679539 {source="Europe PMC"} xref: PMID:11572959 {source="Europe PMC"} xref: PMID:14527438 {source="Europe PMC"} xref: PMID:14563665 {source="Europe PMC"} xref: PMID:15127883 {source="Europe PMC"} xref: PMID:15598489 {source="Europe PMC"} xref: PMID:16371440 {source="Europe PMC"} xref: PMID:16520836 {source="Europe PMC"} xref: PMID:17041734 {source="Europe PMC"} xref: PMID:18094356 {source="Europe PMC"} xref: PMID:19909254 {source="Europe PMC"} xref: PMID:23762709 {source="Europe PMC"} xref: PMID:7022476 {source="Europe PMC"} xref: PMID:8240252 {source="Europe PMC"} xref: PMID:8620577 {source="Europe PMC"} xref: SNOMEDCT:51765001 xref: UM-BBD_compID:c0369 {source="UM-BBD"} xref: Wikipedia:Carbon_monoxide is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:25355 ! mitochondrial respiratory-chain inhibitor property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "CO" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/CO/c1-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UGFAIRIUMAVXCW-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "28.01010" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "27.99491" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C-]#[O+]" xsd:string [Term] id: CHEBI:17252 name: 17alpha-hydroxyprogesterone namespace: chebi_ontology alt_id: CHEBI:11339 alt_id: CHEBI:11340 alt_id: CHEBI:19173 alt_id: CHEBI:790 def: "A 17alpha-hydroxy steroid that is the 17alpha-hydroxy derivative of progesterone." [] subset: 3_STAR synonym: "17-Hydroxypregn-4-en-3,20-dione" RELATED [NIST_Chemistry_WebBook] synonym: "17-hydroxypregn-4-ene-3,20-dione" EXACT IUPAC_NAME [IUPAC] synonym: "17-hydroxyprogesterone" RELATED [ChemIDplus] synonym: "17alpha-Hydroxy-4-pregnene-3,20-dione" RELATED [KEGG_COMPOUND] synonym: "17alpha-Hydroxy-progesterone" RELATED [KEGG_COMPOUND] synonym: "17alpha-Hydroxyprogesterone" EXACT [KEGG_COMPOUND] synonym: "17alpha-hydroxyprogesterone" EXACT [UniProt] synonym: "delta(4)-Pregnene-17alpha-ol-3,20-dione" RELATED [ChemIDplus] synonym: "hidroxiprogesterona" RELATED INN [ChemIDplus] synonym: "hydroxyprogesterone" RELATED INN [KEGG_DRUG] synonym: "hydroxyprogesterone" RELATED [ChemIDplus] synonym: "hydroxyprogesteronum" RELATED INN [ChemIDplus] synonym: "Pregn-4-ene-3,20-dione-17-ol" RELATED [KEGG_COMPOUND] xref: Beilstein:2062088 {source="ChemIDplus"} xref: CAS:68-96-2 {source="KEGG COMPOUND"} xref: CAS:68-96-2 {source="NIST Chemistry WebBook"} xref: CAS:68-96-2 {source="ChemIDplus"} xref: HMDB:HMDB0000374 xref: KEGG:C01176 xref: KEGG:D08052 xref: LIPID_MAPS_instance:LMST02030161 {source="LIPID MAPS"} xref: MetaCyc:17-ALPHA-HYDROXYPROGESTERONE xref: PDBeChem:3QZ xref: PMID:1167988 {source="Europe PMC"} xref: PMID:12915667 {source="Europe PMC"} xref: PMID:14999215 {source="Europe PMC"} xref: PMID:15863951 {source="Europe PMC"} xref: PMID:17066953 {source="Europe PMC"} xref: PMID:17096820 {source="Europe PMC"} xref: PMID:17128559 {source="Europe PMC"} xref: PMID:18573861 {source="Europe PMC"} xref: PMID:19390483 {source="Europe PMC"} xref: PMID:25301938 {source="Europe PMC"} xref: PMID:28539365 {source="Europe PMC"} xref: PMID:28980354 {source="Europe PMC"} xref: PMID:4339047 {source="Europe PMC"} xref: PMID:4343782 {source="Europe PMC"} xref: PMID:4628727 {source="Europe PMC"} xref: PMID:4678211 {source="Europe PMC"} xref: PMID:4678212 {source="Europe PMC"} xref: PMID:5061166 {source="Europe PMC"} xref: PMID:5065810 {source="Europe PMC"} xref: PMID:5098538 {source="Europe PMC"} xref: PMID:518278 {source="Europe PMC"} xref: PMID:5571099 {source="Europe PMC"} xref: PMID:6632812 {source="Europe PMC"} xref: PMID:72488 {source="Europe PMC"} xref: PMID:8496956 {source="Europe PMC"} xref: PMID:9931518 {source="Europe PMC"} xref: Reaxys:2062088 {source="Reaxys"} xref: Wikipedia:17-Hydroxyprogesterone xref: Wikipedia:Hydroxyprogesterone is_a: CHEBI:35341 ! steroid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C21H30O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C21H30O3/c1-13(22)21(24)11-8-18-16-5-4-14-12-15(23)6-9-19(14,2)17(16)7-10-20(18,21)3/h12,16-18,24H,4-11H2,1-3H3/t16-,17+,18+,19+,20+,21+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DBPWSSGDRRHUNT-CEGNMAFCSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "330.468" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "330.21949" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12CC[C@](O)(C(C)=O)[C@@]1(C)CC[C@@]1([H])[C@@]2([H])CCC2=CC(=O)CC[C@]12C" xsd:string [Term] id: CHEBI:17268 name: myo-inositol namespace: chebi_ontology alt_id: CHEBI:10601 alt_id: CHEBI:12826 alt_id: CHEBI:12831 alt_id: CHEBI:25451 alt_id: CHEBI:43559 def: "An inositol having myo- configuration." [] subset: 3_STAR synonym: "(1r,2R,3S,4s,5R,6S)-cyclohexane-1,2,3,4,5,6-hexol" RELATED [IUPAC] synonym: "1,2,3,4,5,6-HEXAHYDROXY-CYCLOHEXANE" RELATED [PDBeChem] synonym: "1,2,3,5/4,6-cyclohexanehexol" RELATED [IUPAC] synonym: "1D-myo-Inositol" RELATED [KEGG_COMPOUND] synonym: "1L-myo-Inositol" RELATED [KEGG_COMPOUND] synonym: "Bios I" RELATED [KEGG_COMPOUND] synonym: "cis-1,2,3,5-trans-4,6-cyclohexanehexol" RELATED [ChemIDplus] synonym: "Cyclohexitol" RELATED [KEGG_COMPOUND] synonym: "D-myo-Inositol" RELATED [KEGG_COMPOUND] synonym: "Dambose" RELATED [KEGG_COMPOUND] synonym: "i-inositol" RELATED [ChEBI] synonym: "inosite" RELATED [ChEBI] synonym: "Inositol" RELATED [KEGG_COMPOUND] synonym: "Ins" RELATED [ChEBI] synonym: "L-myo-Inositol" RELATED [KEGG_COMPOUND] synonym: "Meat sugar" RELATED [KEGG_COMPOUND] synonym: "meso-Inositol" RELATED [KEGG_COMPOUND] synonym: "myo-Inositol" EXACT [KEGG_COMPOUND] synonym: "myo-inositol" EXACT [UniProt] synonym: "myo-inositol" EXACT IUPAC_NAME [IUPAC] synonym: "Myoinositol" RELATED [HMDB] xref: Beilstein:1907329 {source="Beilstein"} xref: CAS:87-89-8 {source="NIST Chemistry WebBook"} xref: CAS:87-89-8 {source="KEGG COMPOUND"} xref: CAS:87-89-8 {source="ChemIDplus"} xref: Drug_Central:1444 {source="DrugCentral"} xref: DrugBank:DB03106 xref: Gmelin:82918 {source="Gmelin"} xref: HMDB:HMDB0000211 xref: KEGG:C00137 xref: KEGG:D08079 xref: KNApSAcK:C00001164 xref: MetaCyc:MYO-INOSITOL xref: PDBeChem:INS xref: PMID:11034685 {source="Europe PMC"} xref: PMID:11244303 {source="Europe PMC"} xref: PMID:11323092 {source="Europe PMC"} xref: PMID:11772411 {source="Europe PMC"} xref: PMID:12478879 {source="Europe PMC"} xref: PMID:12832083 {source="Europe PMC"} xref: PMID:14583919 {source="Europe PMC"} xref: PMID:14681857 {source="Europe PMC"} xref: PMID:15181167 {source="Europe PMC"} xref: PMID:15295080 {source="Europe PMC"} xref: PMID:15558078 {source="Europe PMC"} xref: PMID:16410747 {source="Europe PMC"} xref: PMID:1694860 {source="Europe PMC"} xref: PMID:17439666 {source="Europe PMC"} xref: PMID:17722064 {source="Europe PMC"} xref: PMID:18650262 {source="Europe PMC"} xref: PMID:18854045 {source="Europe PMC"} xref: PMID:19097871 {source="Europe PMC"} xref: PMID:19383710 {source="Europe PMC"} xref: PMID:22285975 {source="Europe PMC"} xref: PMID:22461977 {source="Europe PMC"} xref: PMID:22517104 {source="Europe PMC"} xref: PMID:838172 {source="Europe PMC"} xref: Reaxys:1907329 {source="Reaxys"} xref: Wikipedia:Inositol is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H12O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H12O6/c7-1-2(8)4(10)6(12)5(11)3(1)9/h1-12H/t1-,2-,3-,4+,5-,6-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CDAISMWEOUEBRE-GPIVLXJGSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "180.15588" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "180.06339" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O[C@H]1[C@H](O)[C@@H](O)[C@H](O)[C@H](O)[C@@H]1O" xsd:string [Term] id: CHEBI:17282 name: 3-(indol-3-yl)lactate namespace: chebi_ontology alt_id: CHEBI:14453 alt_id: CHEBI:24812 alt_id: CHEBI:5916 def: "A 2-hydroxy carboxylate that is the conjugate base of 3-(indol-3-yl)lactic acid." [] subset: 3_STAR synonym: "2-hydroxy-3-(1H-indol-3-yl)propanoate" EXACT IUPAC_NAME [IUPAC] synonym: "3-(indol-3-yl)lactate" EXACT [UniProt] synonym: "indole lactate" RELATED [ChEBI] synonym: "indole-3-lactate" RELATED [ChEBI] synonym: "Indolelactate" RELATED [KEGG_COMPOUND] xref: KEGG:C02043 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C11H10NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C11H11NO3/c13-10(11(14)15)5-7-6-12-9-4-2-1-3-8(7)9/h1-4,6,10,12-13H,5H2,(H,14,15)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XGILAAMKEQUXLS-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "204.20204" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "204.06662" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(Cc1c[nH]c2ccccc12)C([O-])=O" xsd:string [Term] id: CHEBI:17287 name: N-phosphocreatine namespace: chebi_ontology alt_id: CHEBI:12526 alt_id: CHEBI:14813 alt_id: CHEBI:26053 alt_id: CHEBI:8145 def: "A phosphoamino acid consisting of creatine having a phospho group attached at the primary nitrogen of the guanidino group." [] subset: 3_STAR synonym: "Creatine phosphate" RELATED [KEGG_COMPOUND] synonym: "Creatine phosphic acid" RELATED [HMDB] synonym: "N(omega)-phosphonocreatine" RELATED [CBN] synonym: "N-(N-phosphonoamido)sarcosine" RELATED [CBN] synonym: "N-(Phosphonoamidino)sarcosine" RELATED [HMDB] synonym: "N-[imino(phosphonoamino)methyl]-N-methylglycine" EXACT IUPAC_NAME [IUPAC] synonym: "N-Phosphocreatine" EXACT [KEGG_COMPOUND] synonym: "N-phosphocreatine" EXACT [ChEBI] synonym: "N-Phosphorylcreatine" RELATED [HMDB] synonym: "Phosphocreatine" RELATED [KEGG_COMPOUND] synonym: "phosphorylcreatine" RELATED [HMDB] synonym: "{[imino(phosphonoamino)methyl](methyl)amino}acetic acid" RELATED [ChEBI] xref: Beilstein:1797096 {source="Beilstein"} xref: CAS:67-07-2 {source="KEGG COMPOUND"} xref: CAS:67-07-2 {source="ChemIDplus"} xref: Drug_Central:3464 {source="DrugCentral"} xref: HMDB:HMDB0001511 xref: KEGG:C02305 xref: MetaCyc:CREATINE-P xref: PMID:1160340 {source="Europe PMC"} xref: PMID:11867929 {source="Europe PMC"} xref: PMID:13772879 {source="Europe PMC"} xref: PMID:13881337 {source="Europe PMC"} xref: PMID:14421251 {source="Europe PMC"} xref: PMID:5879486 {source="Europe PMC"} xref: Reaxys:1797096 {source="Reaxys"} xref: Wikipedia:Phosphocreatine is_a: CHEBI:26020 ! phosphate property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H10N3O5P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H10N3O5P/c1-7(2-3(8)9)4(5)6-13(10,11)12/h2H2,1H3,(H,8,9)(H4,5,6,10,11,12)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DRBBFCLWYRJSJZ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "211.11318" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "211.03581" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN(CC(O)=O)C(=N)NP(O)(O)=O" xsd:string [Term] id: CHEBI:17303 name: morphine namespace: chebi_ontology alt_id: CHEBI:14622 alt_id: CHEBI:25419 alt_id: CHEBI:44202 alt_id: CHEBI:7001 def: "A morphinane alkaloid that is a highly potent opiate analgesic psychoactive drug. Morphine acts directly on the central nervous system (CNS) to relieve pain but has a high potential for addiction, with tolerance and both physical and psychological dependence developing rapidly. Morphine is the most abundant opiate found in Papaver somniferum (the opium poppy)." [] subset: 3_STAR synonym: "(-)-morphine" RELATED [ChemIDplus] synonym: "(5alpha,6alpha)-17-methyl-7,8-didehydro-4,5-epoxymorphinan-3,6-diol" RELATED [ChEBI] synonym: "(5alpha,6alpha)-didehydro-4,5-epoxy-17-methylmorphinan-3,6-diol" RELATED [NIST_Chemistry_WebBook] synonym: "(5R,6S,9R,13S,14R)-4,5-epoxy-N-methyl-7-morphinen-3,6-diol" RELATED [ChemIDplus] synonym: "(7R,7AS,12BS)-3-METHYL-2,3,4,4A,7,7A-HEXAHYDRO-1H-4,12-METHANO[1]BENZOFURO[3,2-E]ISOQUINOLINE-7,9-DIOL" RELATED [PDBeChem] synonym: "17-methyl-7,8-didehydro-4,5alpha-epoxymorphinan-3,6alpha-diol" EXACT IUPAC_NAME [IUPAC] synonym: "morfina" RELATED [ChEBI] synonym: "Morphia" RELATED [ChemIDplus] synonym: "Morphin" RELATED [ChemIDplus] synonym: "Morphine" EXACT [KEGG_COMPOUND] synonym: "morphinum" RELATED [ChemIDplus] synonym: "morphium" RELATED [ChemIDplus] xref: Beilstein:93704 {source="Beilstein"} xref: CAS:57-27-2 {source="KEGG COMPOUND"} xref: CAS:57-27-2 {source="NIST Chemistry WebBook"} xref: CAS:57-27-2 {source="ChemIDplus"} xref: Drug_Central:1845 {source="DrugCentral"} xref: DrugBank:DB00295 xref: KEGG:C01516 xref: KEGG:D08233 xref: KNApSAcK:C00001889 xref: MeSH:D009020 xref: MetaCyc:MORPHINE xref: NCIt:C62051 xref: PDB:1Q0Y xref: PDBeChem:MOI xref: PMID:12593758 {source="Europe PMC"} xref: PMID:15019787 {source="Europe PMC"} xref: PMID:17171884 {source="Europe PMC"} xref: PMID:17667569 {source="Europe PMC"} xref: PMID:19371311 {source="Europe PMC"} xref: PMID:20071451 {source="Europe PMC"} xref: PMID:21061062 {source="Europe PMC"} xref: PMID:23292329 {source="Europe PMC"} xref: PMID:23325235 {source="Europe PMC"} xref: PMID:23555556 {source="Europe PMC"} xref: PMID:23927484 {source="Europe PMC"} xref: PMID:23988259 {source="Europe PMC"} xref: PMID:24096538 {source="Europe PMC"} xref: PMID:24306419 {source="Europe PMC"} xref: PMID:27735107 {source="Europe PMC"} xref: PMID:27815868 {source="Europe PMC"} xref: PMID:27866460 {source="Europe PMC"} xref: PMID:29368335 {source="Europe PMC"} xref: PMID:9231550 {source="Europe PMC"} xref: Reaxys:93704 {source="Reaxys"} xref: SNOMEDCT:373529000 xref: SNOMEDCT:73572009 xref: VSDB:2982 xref: Wikipedia:Morphine is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C17H19NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C17H19NO3/c1-18-7-6-17-10-3-5-13(20)16(17)21-15-12(19)4-2-9(14(15)17)8-11(10)18/h2-5,10-11,13,16,19-20H,6-8H2,1H3/t10-,11+,13-,16-,17-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BQJCRHHNABKAKU-KBQPJGBKSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "285.33770" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "285.13649" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]12C=C[C@H](O)[C@@H]3Oc4c(O)ccc5C[C@H]1N(C)CC[C@@]23c45" xsd:string [Term] id: CHEBI:17306 name: maltose namespace: chebi_ontology alt_id: CHEBI:14568 alt_id: CHEBI:25144 alt_id: CHEBI:6668 def: "A glycosylglucose consisting of two D-glucopyranose units connected by an alpha-(1->4)-linkage." [] subset: 3_STAR synonym: "1-alpha-D-Glucopyranosyl-4-alpha-D-glucopyranose" RELATED [KEGG_COMPOUND] synonym: "4-(alpha-D-glucopyranosido)-alpha-glucopyranose" RELATED [NIST_Chemistry_WebBook] synonym: "4-(alpha-D-glucosido)-D-glucose" RELATED [NIST_Chemistry_WebBook] synonym: "4-O-alpha-D-glucopyranosyl-D-glucopyranose" RELATED [IUPAC] synonym: "4-O-alpha-D-glucopyranosyl-D-glucose" RELATED [NIST_Chemistry_WebBook] synonym: "alpha-D-Glcp-(1->4)-D-Glcp" RELATED [IUPAC] synonym: "alpha-D-Glucopyranosyl-(1->4)-D-glucopyranose" RELATED [KEGG_COMPOUND] synonym: "alpha-D-glucopyranosyl-(1->4)-D-glucopyranose" EXACT IUPAC_NAME [IUPAC] synonym: "alpha-D-glucopyranosyl-(1->4)-D-glucose" EXACT IUPAC_NAME [IUPAC] synonym: "alpha-malt sugar" RELATED [NIST_Chemistry_WebBook] synonym: "Cextromaltose" RELATED [NIST_Chemistry_WebBook] synonym: "D-(+)-maltose" RELATED [ChemIDplus] synonym: "D-maltose" RELATED [UniProt] synonym: "D-maltose" RELATED [NIST_Chemistry_WebBook] synonym: "Malt sugar" RELATED [KEGG_COMPOUND] synonym: "maltobiose" RELATED [NIST_Chemistry_WebBook] synonym: "Maltose" EXACT [KEGG_COMPOUND] synonym: "Malzzucker" RELATED [ChEBI] xref: Beilstein:1292747 {source="Beilstein"} xref: CAS:69-79-4 {source="KEGG COMPOUND"} xref: CAS:69-79-4 {source="NIST Chemistry WebBook"} xref: CAS:69-79-4 {source="ChemIDplus"} xref: DrugBank:DB03323 xref: KEGG:C00208 xref: KEGG:D00044 xref: KEGG:G00275 xref: KNApSAcK:C00001140 xref: PMID:16332759 {source="Europe PMC"} xref: PMID:17723085 {source="Europe PMC"} xref: PMID:22094343 {source="Europe PMC"} xref: PMID:22185612 {source="Europe PMC"} xref: PMID:22246222 {source="Europe PMC"} xref: PMID:22252265 {source="Europe PMC"} xref: PMID:22411612 {source="Europe PMC"} xref: PMID:22424089 {source="Europe PMC"} xref: PMID:22451670 {source="Europe PMC"} xref: PMID:22469630 {source="Europe PMC"} xref: PMID:22529943 {source="Europe PMC"} xref: PMID:22573161 {source="Europe PMC"} xref: PMID:22669197 {source="Europe PMC"} xref: Reaxys:1292747 {source="Reaxys"} xref: Wikipedia:Maltose is_a: CHEBI:16646 ! carbohydrate property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12H22O11" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C12H22O11/c13-1-3-5(15)6(16)9(19)12(22-3)23-10-4(2-14)21-11(20)8(18)7(10)17/h3-20H,1-2H2/t3-,4-,5-,6+,7-,8-,9-,10-,11?,12-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GUBGYTABKSRVRQ-PICCSMPSSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "342.29648" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "342.11621" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC[C@H]1O[C@H](O[C@@H]2[C@@H](CO)OC(O)[C@H](O)[C@H]2O)[C@H](O)[C@@H](O)[C@@H]1O" xsd:string [Term] id: CHEBI:17325 name: 3-hydroxy-3-methylglutarate(2-) namespace: chebi_ontology alt_id: CHEBI:11813 alt_id: CHEBI:20042 def: "A dicarboxylic acid dianion that results from the removal of a proton from both of the carboxylic acid groups of 3-hydroxy-3-methylglutaric acid." [] subset: 3_STAR synonym: "3-hydroxy-3-methylglutarate" RELATED [UniProt] synonym: "3-hydroxy-3-methylpentanedioate" EXACT IUPAC_NAME [IUPAC] xref: KEGG:C03761 xref: MetaCyc:CPD-547 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H8O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H10O5/c1-6(11,2-4(7)8)3-5(9)10/h11H,2-3H2,1H3,(H,7,8)(H,9,10)/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NPOAOTPXWNWTSH-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "160.12470" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "160.03827" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(O)(CC([O-])=O)CC([O-])=O" xsd:string [Term] id: CHEBI:17327 name: phytol namespace: chebi_ontology alt_id: CHEBI:14836 alt_id: CHEBI:26121 alt_id: CHEBI:8193 def: "A diterpenoid that is hexadec-2-en-1-ol substituted by methyl groups at positions 3, 7, 11 and 15." [] subset: 3_STAR synonym: "(2E,7R,11R)-3,7,11,15-tetramethyl-2-hexadecen-1-ol" RELATED [ChEBI] synonym: "(2E,7R,11R)-3,7,11,15-tetramethylhexadec-2-en-1-ol" EXACT IUPAC_NAME [IUPAC] synonym: "Phytol" EXACT [KEGG_COMPOUND] synonym: "phytol" EXACT [UniProt] synonym: "trans-Phytol" RELATED [ChemIDplus] xref: CAS:150-86-7 {source="ChemIDplus"} xref: CAS:150-86-7 {source="KEGG COMPOUND"} xref: CAS:7541-49-3 {source="KEGG COMPOUND"} xref: HMDB:HMDB0002019 xref: KEGG:C01389 xref: KNApSAcK:C00003467 xref: LIPID_MAPS_instance:LMPR0104010002 {source="LIPID MAPS"} xref: MetaCyc:PHYTOL xref: PMID:17015885 {source="Europe PMC"} xref: PMID:24333358 {source="Europe PMC"} xref: PMID:24392173 {source="Europe PMC"} xref: PMID:24422895 {source="Europe PMC"} xref: Reaxys:7855349 {source="Reaxys"} is_a: CHEBI:24913 ! isoprenoid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H40O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H40O/c1-17(2)9-6-10-18(3)11-7-12-19(4)13-8-14-20(5)15-16-21/h15,17-19,21H,6-14,16H2,1-5H3/b20-15+/t18-,19-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BOTWFXYSPFMFNR-PYDDKJGSSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "296.53100" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "296.30792" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)CCC[C@@H](C)CCC[C@@H](C)CCC\\C(C)=C\\CO" xsd:string [Term] id: CHEBI:17347 name: testosterone namespace: chebi_ontology alt_id: CHEBI:15214 alt_id: CHEBI:26883 alt_id: CHEBI:45798 alt_id: CHEBI:9461 def: "An androstanoid having 17beta-hydroxy and 3-oxo groups, together with unsaturation at C-4-C-5.." [] subset: 3_STAR synonym: "17beta-Hydroxy-4-androsten-3-one" RELATED [KEGG_COMPOUND] synonym: "17beta-hydroxy-4-androsten-3-one" RELATED [ChEBI] synonym: "17beta-hydroxyandrost-4-en-3-one" EXACT IUPAC_NAME [IUPAC] synonym: "4-androsten-17beta-ol-3-one" RELATED [NIST_Chemistry_WebBook] synonym: "Androderm" RELATED [ChemIDplus] synonym: "Testosteron" RELATED [ChemIDplus] synonym: "testosterona" RELATED INN [ChemIDplus] synonym: "TESTOSTERONE" EXACT [PDBeChem] synonym: "Testosterone" EXACT [KEGG_COMPOUND] synonym: "testosterone" EXACT [UniProt] synonym: "testosterone" RELATED INN [ChemIDplus] synonym: "testosteronum" RELATED INN [ChemIDplus] xref: Beilstein:1915399 {source="Beilstein"} xref: Beilstein:3653705 {source="Beilstein"} xref: CAS:58-22-0 {source="NIST Chemistry WebBook"} xref: CAS:58-22-0 {source="ChemIDplus"} xref: CAS:58-22-0 {source="KEGG COMPOUND"} xref: Drug_Central:2607 {source="DrugCentral"} xref: DrugBank:DB00624 xref: Gmelin:538843 {source="Gmelin"} xref: HMDB:HMDB0000234 xref: KEGG:C00535 xref: KEGG:D00075 xref: KNApSAcK:C00003675 xref: LIPID_MAPS_instance:LMST02020002 {source="LIPID MAPS"} xref: MeSH:D013739 xref: NCIt:C2299 xref: PDBeChem:TES xref: PMID:10438974 {source="Europe PMC"} xref: PMID:11786693 {source="Europe PMC"} xref: PMID:18900503 {source="Europe PMC"} xref: PMID:24498482 {source="Europe PMC"} xref: Reaxys:1915399 {source="Reaxys"} xref: SNOMEDCT:43688007 xref: Wikipedia:Testosterone is_a: CHEBI:35341 ! steroid relationship: has_role EFO:0001824 ! hormone role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H28O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H28O2/c1-18-9-7-13(20)11-12(18)3-4-14-15-5-6-17(21)19(15,2)10-8-16(14)18/h11,14-17,21H,3-10H2,1-2H3/t14-,15-,16-,17-,18-,19-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "MUMGGOZAMZWBJJ-DYKIIFRCSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "288.42440" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "288.20893" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12CCC3=CC(=O)CC[C@]3(C)[C@@]1([H])CC[C@]1(C)[C@@H](O)CC[C@@]21[H]" xsd:string [Term] id: CHEBI:17351 name: linoleic acid namespace: chebi_ontology alt_id: CHEBI:25047 alt_id: CHEBI:42395 alt_id: CHEBI:6479 def: "An octadecadienoic acid in which the two double bonds are at positions 9 and 12 and have Z (cis) stereochemistry." [] subset: 3_STAR synonym: "(9Z,12Z)-octadeca-9,12-dienoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "(9Z,12Z)-Octadecadienoic acid" RELATED [KEGG_COMPOUND] synonym: "(Z,Z)-9,12-octadecadienoic acid" RELATED [NIST_Chemistry_WebBook] synonym: "9-cis,12-cis-Octadecadienoic acid" RELATED [KEGG_COMPOUND] synonym: "9Z,12Z-octadecadienoic acid" RELATED [LIPID_MAPS] synonym: "acide cis-linoleique" RELATED [ChEBI] synonym: "acide linoleique" RELATED [ChEBI] synonym: "acido linoleico" RELATED [ChEBI] synonym: "all-cis-9,12-octadecadienoic acid" RELATED [ChEBI] synonym: "C18:2 9c, 12c omega6 todos cis-9,12-octadienoico" RELATED [ChEBI] synonym: "C18:2, n-6,9 all-cis" RELATED [ChEBI] synonym: "cis,cis-9,12-octadecadienoic acid" RELATED [ChEBI] synonym: "cis,cis-linoleic acid" RELATED [ChEBI] synonym: "cis,cis-linoleic acid" RELATED [NIST_Chemistry_WebBook] synonym: "cis-Delta(9,12)-octadecadienoic acid" RELATED [ChemIDplus] synonym: "LA" RELATED [ChEBI] synonym: "LINOLEIC ACID" EXACT [PDBeChem] synonym: "Linoleic acid" EXACT [KEGG_COMPOUND] synonym: "linolic acid" RELATED [ChEBI] xref: Beilstein:1727101 {source="Beilstein"} xref: CAS:60-33-3 {source="KEGG COMPOUND"} xref: CAS:60-33-3 {source="NIST Chemistry WebBook"} xref: CAS:60-33-3 {source="ChemIDplus"} xref: Drug_Central:3323 {source="DrugCentral"} xref: Gmelin:57557 {source="Gmelin"} xref: HMDB:HMDB0000673 xref: KEGG:C01595 xref: KNApSAcK:C00001224 xref: LIPID_MAPS_instance:LMFA01030120 {source="LIPID MAPS"} xref: MeSH:D019787 xref: MetaCyc:LINOLEIC_ACID xref: NCIt:C615 xref: PDBeChem:EIC xref: PMID:11113630 {source="Europe PMC"} xref: PMID:11304127 {source="Europe PMC"} xref: PMID:11322990 {source="Europe PMC"} xref: PMID:14667063 {source="Europe PMC"} xref: PMID:14993245 {source="Europe PMC"} xref: PMID:15115315 {source="Europe PMC"} xref: PMID:15642793 {source="Europe PMC"} xref: PMID:15969511 {source="Europe PMC"} xref: PMID:16254037 {source="Europe PMC"} xref: PMID:16563718 {source="Europe PMC"} xref: PMID:17647039 {source="Europe PMC"} xref: PMID:18044828 {source="Europe PMC"} xref: PMID:18990554 {source="Europe PMC"} xref: PMID:19628674 {source="Europe PMC"} xref: PMID:19936816 {source="Europe PMC"} xref: PMID:23900039 {source="Europe PMC"} xref: PMID:24081493 {source="Europe PMC"} xref: PMID:6205897 {source="Europe PMC"} xref: Reaxys:1727101 {source="Reaxys"} xref: SNOMEDCT:8822004 xref: Wikipedia:Linoleic_acid is_a: CHEBI:35366 ! fatty acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H32O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H32O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-18(19)20/h6-7,9-10H,2-5,8,11-17H2,1H3,(H,19,20)/b7-6-,10-9-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OYHQOLUKZRVURQ-HZJYTTRNSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "280.44550" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "280.24023" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCC\\C=C/C\\C=C/CCCCCCCC(O)=O" xsd:string [Term] id: CHEBI:17356 name: 2-acetamidofluorene namespace: chebi_ontology alt_id: CHEBI:11494 alt_id: CHEBI:19431 alt_id: CHEBI:40645 alt_id: CHEBI:981 def: "The parent of the class of 2-acetamidofluorenes, being an ortho-fused polycyclic arene that consists of 9H-fluorene bearing an acetamido substituent at position 2. It is a carcinogenic and mutagenic derivative of fluorene." [] subset: 3_STAR synonym: "2-(Acetylamino)fluorene" RELATED [ChemIDplus] synonym: "2-AAF" RELATED [NIST_Chemistry_WebBook] synonym: "2-Acetamidofluorene" EXACT [KEGG_COMPOUND] synonym: "2-acetamidofluorene" EXACT [UniProt] synonym: "2-Acetaminofluorene" RELATED [ChemIDplus] synonym: "2-Acetoaminofluorene" RELATED [ChemIDplus] synonym: "2-Acetylaminofluorene" RELATED [ChemIDplus] synonym: "2-ACETYLAMINOFLUORENE-3-YL" RELATED [PDBeChem] synonym: "2-FAA" RELATED [NIST_Chemistry_WebBook] synonym: "N-(9H-fluoren-2-yl)acetamide" EXACT IUPAC_NAME [IUPAC] synonym: "N-2-Fluorenylacetamide" RELATED [KEGG_COMPOUND] synonym: "N-Acetyl-2-aminofluorene" RELATED [ChemIDplus] synonym: "N-fluoren-2-ylacetamide" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:2807677 "Beilstein Registry Number" xref: Beilstein:2807677 {source="Beilstein"} xref: CAS:53-96-3 {source="ChemIDplus"} xref: CAS:53-96-3 {source="NIST Chemistry WebBook"} xref: CAS:53-96-3 {source="KEGG COMPOUND"} xref: ChemIDplus:53-96-3 "CAS Registry Number" xref: KEGG COMPOUND:53-96-3 "CAS Registry Number" xref: KEGG COMPOUND:C02778 "KEGG COMPOUND" xref: KEGG:C02778 xref: LINCS:LSM-37153 xref: MeSH:D015073 xref: NCIt:C29791 xref: NIST Chemistry WebBook:53-96-3 "CAS Registry Number" xref: PDBeChem:AFF xref: PMID:15380103 {source="Europe PMC"} xref: PMID:17434228 {source="Europe PMC"} xref: PMID:21417629 {source="Europe PMC"} xref: PMID:21668357 {source="Europe PMC"} xref: PMID:22514719 {source="Europe PMC"} xref: PMID:23536516 {source="Europe PMC"} xref: PMID:24021430 {source="Europe PMC"} xref: PMID:7151044 {source="Europe PMC"} xref: Reaxys:2807677 "Reaxys Registry Number" xref: Reaxys:2807677 {source="Reaxys"} xref: Wikipedia:2-Acetylaminofluorene "Wikipedia" xref: Wikipedia:2-Acetylaminofluorene is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:25435 ! mutagen relationship: has_role EFO:0004364 ! neurobehavioral manifestations property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C15H13NO" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C15H13NO/c1-10(17)16-13-6-7-15-12(9-13)8-11-4-2-3-5-14(11)15/h2-7,9H,8H2,1H3,(H,16,17)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CZIHNRWJTSTCEX-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "223.270" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "223.09971" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(=O)(NC=1C=C2C(C=3C(C2)=CC=CC3)=CC1)C" xsd:string [Term] id: CHEBI:17362 name: quinoline namespace: chebi_ontology alt_id: CHEBI:15007 alt_id: CHEBI:8727 def: "The simplest member of the quinoline class of compounds, comprising a benzene ring ortho fused to C-2 and C-3 of a pyridine ring." [] subset: 3_STAR synonym: "benzo[b]pyridine" RELATED [NIST_Chemistry_WebBook] synonym: "Chinolin" RELATED [NIST_Chemistry_WebBook] synonym: "Quinoline" EXACT [KEGG_COMPOUND] synonym: "quinoline" EXACT [UniProt] synonym: "quinoline" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:107477 {source="Beilstein"} xref: CAS:91-22-5 {source="KEGG COMPOUND"} xref: CAS:91-22-5 {source="NIST Chemistry WebBook"} xref: CAS:91-22-5 {source="ChemIDplus"} xref: Gmelin:27201 {source="Gmelin"} xref: HMDB:HMDB0033731 xref: KEGG:C06413 xref: KNApSAcK:C00026478 xref: MetaCyc:QUINOLINE xref: PMID:16406213 {source="Europe PMC"} xref: PMID:8070089 {source="Europe PMC"} xref: Reaxys:107477 {source="Reaxys"} xref: Wikipedia:Quinoline is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H7N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H7N/c1-2-6-9-8(4-1)5-3-7-10-9/h1-7H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SMWDFEZZVXVKRB-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "129.15860" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "129.05785" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "c1ccc2ncccc2c1" xsd:string [Term] id: CHEBI:17368 name: hypoxanthine namespace: chebi_ontology alt_id: CHEBI:14431 alt_id: CHEBI:24762 alt_id: CHEBI:43237 alt_id: CHEBI:5841 def: "A purine nucleobase that consists of purine bearing an oxo substituent at position 6." [] subset: 3_STAR synonym: "1,7-dihydro-6H-purin-6-one" EXACT IUPAC_NAME [IUPAC] synonym: "6(1H)-purinone" RELATED [NIST_Chemistry_WebBook] synonym: "6-oxopurine" RELATED [NIST_Chemistry_WebBook] synonym: "9H-purin-6(1H)-one" RELATED [NIST_Chemistry_WebBook] synonym: "Hyp" RELATED [CBN] synonym: "HYPOXANTHINE" EXACT [PDBeChem] synonym: "Hypoxanthine" EXACT [KEGG_COMPOUND] synonym: "hypoxanthine" EXACT [UniProt] synonym: "purin-6(1H)-one" RELATED [NIST_Chemistry_WebBook] synonym: "Purine-6-ol" RELATED [KEGG_COMPOUND] xref: Beilstein:5811 {source="Beilstein"} xref: CAS:68-94-0 {source="KEGG COMPOUND"} xref: CAS:68-94-0 {source="ChemIDplus"} xref: CAS:68-94-0 {source="NIST Chemistry WebBook"} xref: DrugBank:DB04076 xref: ECMDB:ECMDB00157 xref: Gmelin:464558 {source="Gmelin"} xref: HMDB:HMDB0000157 xref: KEGG:C00262 xref: KNApSAcK:C00001502 xref: MetaCyc:HYPOXANTHINE xref: PDBeChem:HPA xref: PMID:14253484 {source="Europe PMC"} xref: PMID:1557408 {source="Europe PMC"} xref: PMID:22735334 {source="Europe PMC"} xref: PMID:23400363 {source="Europe PMC"} xref: PMID:23670363 {source="Europe PMC"} xref: PMID:8016081 {source="Europe PMC"} xref: Reaxys:5811 {source="Reaxys"} xref: Wikipedia:Hypoxanthine xref: YMDB:YMDB00555 is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H4N4O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H4N4O/c10-5-3-4(7-1-6-3)8-2-9-5/h1-2H,(H2,6,7,8,9,10)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FDGQSTZJBFJUBT-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "136.11162" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "136.03851" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O=c1[nH]cnc2nc[nH]c12" xsd:string [Term] id: CHEBI:17376 name: cystine namespace: chebi_ontology alt_id: CHEBI:14062 alt_id: CHEBI:23513 alt_id: CHEBI:4052 def: "A sulfur-containing amino acid obtained by the oxidation of two cysteine molecules which are then linked via a disulfide bond." [] subset: 3_STAR synonym: "3,3'-disulfanediylbis(2-aminopropanoic acid)" EXACT IUPAC_NAME [IUPAC] synonym: "3,3'-dithiobis(2-aminopropanoic acid)" RELATED [ChEBI] synonym: "alpha-Diamino-beta-dithiolactic acid" RELATED [KEGG_COMPOUND] synonym: "cistina" RELATED [ChEBI] synonym: "Cystin" RELATED [ChEBI] synonym: "Cystine" EXACT [KEGG_COMPOUND] synonym: "cystine" EXACT IUPAC_NAME [IUPAC] synonym: "Dicysteine" RELATED [KEGG_COMPOUND] synonym: "Zystin" RELATED [ChEBI] xref: Beilstein:1728091 {source="Beilstein"} xref: CAS:923-32-0 {source="ChemIDplus"} xref: CAS:923-32-0 {source="KEGG COMPOUND"} xref: Gmelin:83347 {source="Gmelin"} xref: KEGG:C01420 xref: PMID:18608550 {source="Europe PMC"} xref: PMID:24327171 {source="Europe PMC"} xref: PMID:24525029 {source="Europe PMC"} xref: PMID:24525030 {source="Europe PMC"} xref: Reaxys:1728091 {source="Reaxys"} xref: Wikipedia:Cystine is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H12N2O4S2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H12N2O4S2/c7-3(5(9)10)1-13-14-2-4(8)6(11)12/h3-4H,1-2,7-8H2,(H,9,10)(H,11,12)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LEVWYRKDKASIDU-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "240.30256" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "240.02385" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NC(CSSCC(N)C(O)=O)C(O)=O" xsd:string [Term] id: CHEBI:17388 name: (S)-1-pyrroline-5-carboxylate namespace: chebi_ontology alt_id: CHEBI:12409 alt_id: CHEBI:18727 def: "A 1-pyrroline-5-carboxylate resulting from the removal of the proton from the carboxy group of (S)-1-pyrroline-5-carboxylic acid." [] subset: 3_STAR synonym: "(2S)-3,4-dihydro-2H-pyrrole-2-carboxylate" EXACT IUPAC_NAME [IUPAC] synonym: "(S)-1-pyrroline-5-carboxylate" EXACT [UniProt] synonym: "S-1-pyrroline-5-carboxylate" RELATED [ChEBI] xref: HMDB:HMDB0001301 xref: KEGG:C03912 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H6NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H7NO2/c7-5(8)4-2-1-3-6-4/h3-4H,1-2H2,(H,7,8)/p-1/t4-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DWAKNKKXGALPNW-BYPYZUCNSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "112.10720" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "112.04040" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-]C(=O)[C@@H]1CCC=N1" xsd:string [Term] id: CHEBI:17394 name: N(5)-ethyl-L-glutamine namespace: chebi_ontology alt_id: CHEBI:12651 alt_id: CHEBI:21845 alt_id: CHEBI:7397 def: "A N(5)-alkylglutamine where the alkyl group is ethyl. It has been isolated from green tea." [] subset: 3_STAR synonym: "(2S)-2-amino-5-(ethylamino)-5-oxopentanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "L-Theanine" RELATED [KEGG_COMPOUND] synonym: "L-theanine" RELATED [ChemIDplus] synonym: "N(5)-ethyl-L-glutamine" EXACT IUPAC_NAME [IUPAC] synonym: "N5-Ethyl-L-glutamine" RELATED [KEGG_COMPOUND] xref: CAS:3081-61-6 {source="KEGG COMPOUND"} xref: CAS:3081-61-6 {source="ChemIDplus"} xref: HMDB:HMDB0034365 xref: KEGG:C01047 xref: PDBeChem:85G xref: PMID:20416364 {source="Europe PMC"} xref: PMID:22422488 {source="Europe PMC"} xref: PMID:23096008 {source="Europe PMC"} xref: PMID:23097345 {source="Europe PMC"} xref: PMID:23395732 {source="Europe PMC"} xref: PMID:24304633 {source="Europe PMC"} xref: Reaxys:1725586 {source="Reaxys"} xref: Wikipedia:L-theanine is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H14N2O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H14N2O3/c1-2-9-6(10)4-3-5(8)7(11)12/h5H,2-4,8H2,1H3,(H,9,10)(H,11,12)/t5-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DATAGRPVKZEWHA-YFKPBYRVSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "174.200" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "174.10044" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(=O)([C@H](CCC(NCC)=O)N)O" xsd:string [Term] id: CHEBI:17443 name: L-homocitrulline namespace: chebi_ontology alt_id: CHEBI:13121 alt_id: CHEBI:21328 alt_id: CHEBI:6244 def: "A L-lysine derivative that is L-lysine having a carbamoyl group at the N(6)-position. It is found in individuals with urea cycle disorders." [] subset: 3_STAR synonym: "(2S)-2-amino-6-(carbamoylamino)hexanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "L-Homocitrulline" EXACT [KEGG_COMPOUND] synonym: "N(6)-(aminocarbonyl)-L-lysine" RELATED [ChemIDplus] synonym: "N(6)-carbamoyl-L-lysine" EXACT IUPAC_NAME [IUPAC] xref: CAS:1190-49-4 {source="ChemIDplus"} xref: CAS:1190-49-4 {source="KEGG COMPOUND"} xref: HMDB:HMDB0000679 xref: KEGG:C02427 xref: MetaCyc:CPD-161 xref: PMID:2432665 {source="Europe PMC"} xref: PMID:2474087 {source="Europe PMC"} xref: PMID:518684 {source="Europe PMC"} xref: PMID:6821687 {source="Europe PMC"} xref: PMID:901434 {source="Europe PMC"} xref: PMID:901435 {source="Europe PMC"} xref: Reaxys:1726129 {source="Reaxys"} is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H15N3O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H15N3O3/c8-5(6(11)12)3-1-2-4-10-7(9)13/h5H,1-4,8H2,(H,11,12)(H3,9,10,13)/t5-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XIGSAGMEBXLVJJ-YFKPBYRVSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "189.21242" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "189.11134" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "N[C@@H](CCCCNC(N)=O)C(O)=O" xsd:string [Term] id: CHEBI:17445 name: 3-hydroxyphenylacetic acid namespace: chebi_ontology alt_id: CHEBI:11833 alt_id: CHEBI:1550 alt_id: CHEBI:20076 alt_id: CHEBI:39897 def: "A monocarboxylic acid that is phenylacetic acid in which the hydrogen at position 3 on the benzene ring is replaced by a hydroxy group." [] subset: 3_STAR synonym: "(3-hydroxyphenyl)acetic acid" EXACT IUPAC_NAME [IUPAC] synonym: "(m-hydroxyphenyl)acetic acid" RELATED [ChemIDplus] synonym: "3-hydroxybenzeneacetic acid" RELATED [ChemIDplus] synonym: "3-Hydroxyphenylacetic acid" EXACT [KEGG_COMPOUND] synonym: "3-hydroxyphenylacetic acid" EXACT [UniProt] synonym: "m-hydroxyphenylacetic acid" RELATED [ChemIDplus] xref: Beilstein:2086506 {source="Beilstein"} xref: CAS:621-37-4 {source="ChemIDplus"} xref: CAS:621-37-4 {source="KEGG COMPOUND"} xref: HMDB:HMDB0000440 xref: KEGG:C05593 xref: MetaCyc:3-HYDROXYPHENYLACETATE xref: Patent:US5639643 xref: PDBeChem:3HP xref: PMID:19083460 {source="Europe PMC"} xref: PMID:20579527 {source="Europe PMC"} xref: PMID:22919580 {source="Europe PMC"} xref: PMID:23319439 {source="Europe PMC"} xref: PMID:24287915 {source="Europe PMC"} xref: PMID:5350345 {source="Europe PMC"} xref: PMID:7264927 {source="Europe PMC"} xref: Reaxys:2086506 {source="Reaxys"} is_a: CHEBI:33853 ! phenols property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H8O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H8O3/c9-7-3-1-2-6(4-7)5-8(10)11/h1-4,9H,5H2,(H,10,11)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FVMDYYGIDFPZAX-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "152.14732" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "152.04734" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)Cc1cccc(O)c1" xsd:string [Term] id: CHEBI:174593 name: Glutaconylcarnitine namespace: chebi_ontology subset: 2_STAR synonym: "(3S)-3-[(E)-4-carboxybut-2-enoyl]oxy-4-(trimethylazaniumyl)butanoate" EXACT IUPAC_NAME [SUBMITTER] xref: Chemspider:30776696 xref: HMDB:HMDB0013129 xref: LIPID_MAPS_instance:LMFA07070065 {source="LIPID MAPS"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12H19NO6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C12H19NO6/c1-13(2,3)8-9(7-11(16)17)19-12(18)6-4-5-10(14)15/h4,6,9H,5,7-8H2,1-3H3,(H-,14,15,16,17)/b6-4+/t9-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JXVUHLILXGZLFR-DNQSNQRASA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "273.285" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "273.12124" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O([C@H](C[N+](C)(C)C)CC([O-])=O)C(=O)/C=C/CC(O)=O" xsd:string [Term] id: CHEBI:17489 name: 3',5'-cyclic AMP namespace: chebi_ontology alt_id: CHEBI:11673 alt_id: CHEBI:1325 alt_id: CHEBI:19827 alt_id: CHEBI:41588 def: "A 3',5'-cyclic purine nucleotide having having adenine as the nucleobase." [] subset: 3_STAR synonym: "3',5'-Cyclic AMP" EXACT [KEGG_COMPOUND] synonym: "adenosine 3',5'-(hydrogen phosphate)" EXACT IUPAC_NAME [IUPAC] synonym: "adenosine 3',5'-cyclic monophosphate" RELATED [NIST_Chemistry_WebBook] synonym: "Adenosine 3',5'-cyclic phosphate" RELATED [KEGG_COMPOUND] synonym: "Adenosine 3',5'-phosphate" RELATED [KEGG_COMPOUND] synonym: "ADENOSINE-3',5'-CYCLIC-MONOPHOSPHATE" RELATED [PDBeChem] synonym: "cAMP" RELATED [KEGG_COMPOUND] synonym: "Cyclic adenylic acid" RELATED [KEGG_COMPOUND] synonym: "Cyclic AMP" RELATED [KEGG_COMPOUND] xref: Beilstein:52645 {source="Beilstein"} xref: CAS:60-92-4 {source="KEGG COMPOUND"} xref: CAS:60-92-4 {source="NIST Chemistry WebBook"} xref: CAS:60-92-4 {source="ChemIDplus"} xref: DrugBank:DB02527 xref: HMDB:HMDB0000058 xref: KEGG:C00575 xref: KNApSAcK:C00001497 xref: MetaCyc:CAMP xref: PDBeChem:CMP xref: PMID:16295522 {source="Europe PMC"} xref: PMID:18372334 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: Reaxys:52645 {source="Reaxys"} xref: Wikipedia:Cyclic_AMP is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:26020 ! phosphate property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H12N5O6P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H12N5O6P/c11-8-5-9(13-2-12-8)15(3-14-5)10-6(16)7-4(20-10)1-19-22(17,18)21-7/h2-4,6-7,10,16H,1H2,(H,17,18)(H2,11,12,13)/t4-,6-,7-,10-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IVOMOUWHDPKRLL-KQYNXXCUSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "329.20614" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "329.05252" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Nc1ncnc2n(cnc12)[C@@H]1O[C@@H]2COP(O)(=O)O[C@H]2[C@H]1O" xsd:string [Term] id: CHEBI:175127 name: S-6-Hydroxywarfarin namespace: chebi_ontology subset: 2_STAR synonym: "4,6-dihydroxy-3-[(1S)-3-oxo-1-phenylbutyl]chromen-2-one" EXACT IUPAC_NAME [SUBMITTER] xref: CAS:63740-80-7 {source="ChemIDplus"} xref: Chemspider:48059821 is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H16O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H16O5/c1-11(20)9-14(12-5-3-2-4-6-12)17-18(22)15-10-13(21)7-8-16(15)24-19(17)23/h2-8,10,14,21-22H,9H2,1H3/t14-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IQWPEJBUOJQPDE-AWEZNQCLSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "324.332" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "324.09977" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O1C(=O)C([C@@H](CC(=O)C)C2=CC=CC=C2)=C(O)C3=C1C=CC(O)=C3" xsd:string [Term] id: CHEBI:175131 name: R-6-Hydroxywarfarin namespace: chebi_ontology subset: 2_STAR synonym: "4,6-dihydroxy-3-[(1R)-3-oxo-1-phenylbutyl]chromen-2-one" EXACT IUPAC_NAME [SUBMITTER] xref: CAS:63740-75-0 {source="ChemIDplus"} xref: Chemspider:48060806 is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H16O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H16O5/c1-11(20)9-14(12-5-3-2-4-6-12)17-18(22)15-10-13(21)7-8-16(15)24-19(17)23/h2-8,10,14,21-22H,9H2,1H3/t14-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IQWPEJBUOJQPDE-CQSZACIVSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "324.332" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "324.09977" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O1C(=O)C([C@H](CC(=O)C)C2=CC=CC=C2)=C(O)C3=C1C=CC(O)=C3" xsd:string [Term] id: CHEBI:17519 name: N-methyl-L-alanine namespace: chebi_ontology alt_id: CHEBI:12516 alt_id: CHEBI:21751 alt_id: CHEBI:43883 alt_id: CHEBI:7309 def: "A methyl-L-alanine in which one of the the amino hydrogen of L-alanine is replaced by a methyl group." [] subset: 3_STAR synonym: "(2S)-2-(methylamino)propanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "(S)-2-methylaminopropanoic acid" RELATED [ChEBI] synonym: "N-Methyl-L-alanine" EXACT [KEGG_COMPOUND] synonym: "N-methyl-L-alanine" EXACT IUPAC_NAME [IUPAC] synonym: "N-Methylalanine" RELATED [ChemIDplus] xref: CAS:3913-67-5 {source="KEGG COMPOUND"} xref: CAS:3913-67-5 {source="ChemIDplus"} xref: KEGG:C02721 xref: MetaCyc:CPD-298 xref: PDBeChem:MAA xref: PMID:23681735 {source="Europe PMC"} xref: PMID:4314464 {source="Europe PMC"} xref: PMID:487287 {source="Europe PMC"} xref: PMID:6187921 {source="Europe PMC"} xref: Reaxys:1720922 {source="Reaxys"} is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H9NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H9NO2/c1-3(5-2)4(6)7/h3,5H,1-2H3,(H,6,7)/t3-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GDFAOVXKHJXLEI-VKHMYHEASA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "103.11980" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "103.06333" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN[C@@H](C)C(O)=O" xsd:string [Term] id: CHEBI:17533 name: N-acetyl-L-glutamic acid namespace: chebi_ontology alt_id: CHEBI:21552 alt_id: CHEBI:44335 alt_id: CHEBI:7150 def: "An N-acyl-L-amino acid that is L-glutamic acid in which one of the amine hydrogens is substituted by an acetyl group." [] subset: 3_STAR synonym: "(2S)-2-acetamidopentanedioic acid" EXACT IUPAC_NAME [IUPAC] synonym: "(S)-2-(acetylamino)pentanedioic acid" RELATED [ChEBI] synonym: "Ac-Glu-OH" RELATED [HMDB] synonym: "Acetyl-L-glutamic acid" RELATED [HMDB] synonym: "Acetylglutamic acid" RELATED [ChEBI] synonym: "acetylglutamic acid" RELATED [ChEBI] synonym: "L-N-acetylglutamic acid" RELATED [ChemIDplus] synonym: "N-Ac-Glu-OH" RELATED [HMDB] synonym: "N-ACETYL-L-GLUTAMATE" RELATED [PDBeChem] synonym: "N-Acetyl-L-glutamic acid" EXACT [KEGG_COMPOUND] synonym: "N-acetyl-L-glutamic acid" EXACT IUPAC_NAME [IUPAC] synonym: "N-acetyl-L-glutamic acid" EXACT [PDBeChem] synonym: "N-Acetylglutamic acid" RELATED [HMDB] xref: CAS:1188-37-0 {source="ChemIDplus"} xref: CAS:1188-37-0 {source="KEGG COMPOUND"} xref: DrugBank:DB04075 xref: HMDB:HMDB0001138 xref: KEGG:C00624 xref: PDBeChem:NLG xref: PMID:115331 {source="Europe PMC"} xref: PMID:17190852 {source="Europe PMC"} xref: PMID:17439666 {source="Europe PMC"} xref: PMID:5924663 {source="Europe PMC"} xref: PMID:6035272 {source="Europe PMC"} xref: PMID:9037750 {source="Europe PMC"} xref: Reaxys:1727473 {source="Reaxys"} xref: Wikipedia:N-Acetylglutamic_acid is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H11NO5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H11NO5/c1-4(9)8-5(7(12)13)2-3-6(10)11/h5H,2-3H2,1H3,(H,8,9)(H,10,11)(H,12,13)/t5-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RFMMMVDNIPUKGG-YFKPBYRVSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "189.16598" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "189.06372" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(=O)N[C@@H](CCC(O)=O)C(O)=O" xsd:string [Term] id: CHEBI:17561 name: L-cysteine namespace: chebi_ontology alt_id: CHEBI:13095 alt_id: CHEBI:21261 alt_id: CHEBI:41227 alt_id: CHEBI:41700 alt_id: CHEBI:41768 alt_id: CHEBI:41781 alt_id: CHEBI:41811 alt_id: CHEBI:6207 def: "An optically active form of cysteine having L-configuration." [] subset: 3_STAR synonym: "(2R)-2-amino-3-mercaptopropanoic acid" RELATED [JCBN] synonym: "(2R)-2-amino-3-sulfanylpropanoic acid" RELATED [IUPAC] synonym: "(R)-2-amino-3-mercaptopropanoic acid" RELATED [NIST_Chemistry_WebBook] synonym: "C" RELATED [ChEBI] synonym: "Cys" RELATED [ChEBI] synonym: "CYSTEINE" RELATED [PDBeChem] synonym: "E 920" RELATED [ChEBI] synonym: "E-920" RELATED [ChEBI] synonym: "E920" RELATED [ChEBI] synonym: "FREE CYSTEINE" RELATED [PDBeChem] synonym: "L-2-Amino-3-mercaptopropionic acid" RELATED [KEGG_COMPOUND] synonym: "L-Cystein" RELATED [ChEBI] synonym: "L-Cysteine" EXACT [KEGG_COMPOUND] synonym: "L-cysteine" EXACT IUPAC_NAME [IUPAC] synonym: "L-Zystein" RELATED [ChEBI] xref: Beilstein:1721408 {source="Beilstein"} xref: CAS:52-90-4 {source="ChemIDplus"} xref: CAS:52-90-4 {source="NIST Chemistry WebBook"} xref: CAS:52-90-4 {source="KEGG COMPOUND"} xref: Drug_Central:769 {source="DrugCentral"} xref: DrugBank:DB00151 xref: ECMDB:ECMDB00574 xref: Gmelin:49991 {source="Gmelin"} xref: HMDB:HMDB0000574 xref: KEGG:C00097 xref: KEGG:D00026 xref: KNApSAcK:C00001351 xref: MetaCyc:CYS xref: PDBeChem:CYS xref: PMID:11732994 {source="Europe PMC"} xref: PMID:13761469 {source="Europe PMC"} xref: PMID:22735334 {source="Europe PMC"} xref: Reaxys:1721408 {source="Reaxys"} xref: Wikipedia:Cysteine xref: YMDB:YMDB00046 is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H7NO2S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H7NO2S/c4-2(1-7)3(5)6/h2,7H,1,4H2,(H,5,6)/t2-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XUJNEKJLAYXESH-REOHCLBHSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "121.15800" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "121.01975" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "N[C@@H](CS)C(O)=O" xsd:string [Term] id: CHEBI:17568 name: uracil namespace: chebi_ontology alt_id: CHEBI:15288 alt_id: CHEBI:27210 alt_id: CHEBI:46375 alt_id: CHEBI:9882 def: "A common and naturally occurring pyrimidine nucleobase in which the pyrimidine ring is substituted with two oxo groups at positions 2 and 4. Found in RNA, it base pairs with adenine and replaces thymine during DNA transcription." [] subset: 3_STAR synonym: "2,4(1H,3H)-pyrimidinedione" RELATED [NIST_Chemistry_WebBook] synonym: "2,4-Dioxopyrimidine" RELATED [HMDB] synonym: "2,4-Pyrimidinedione" RELATED [HMDB] synonym: "pyrimidine-2,4(1H,3H)-dione" EXACT IUPAC_NAME [IUPAC] synonym: "U" RELATED [ChEBI] synonym: "Ura" RELATED [CBN] synonym: "URACIL" EXACT [PDBeChem] synonym: "Uracil" EXACT [KEGG_COMPOUND] synonym: "uracil" EXACT [UniProt] synonym: "Urazil" RELATED [ChEBI] xref: Beilstein:606623 {source="Beilstein"} xref: CAS:66-22-8 {source="NIST Chemistry WebBook"} xref: CAS:66-22-8 {source="KEGG COMPOUND"} xref: CAS:66-22-8 {source="ChemIDplus"} xref: DrugBank:DB03419 xref: Gmelin:2896 {source="Gmelin"} xref: HMDB:HMDB0000300 xref: KEGG:C00106 xref: KEGG:D00027 xref: KNApSAcK:C00001513 xref: MetaCyc:URACIL xref: PDBeChem:URA xref: PMID:11279060 {source="Europe PMC"} xref: PMID:12855717 {source="Europe PMC"} xref: PMID:15274295 {source="Europe PMC"} xref: PMID:16834123 {source="Europe PMC"} xref: PMID:17439666 {source="Europe PMC"} xref: PMID:18533995 {source="Europe PMC"} xref: PMID:18815805 {source="Europe PMC"} xref: PMID:19175333 {source="Europe PMC"} xref: PMID:22020693 {source="Europe PMC"} xref: PMID:22074393 {source="Europe PMC"} xref: PMID:22120518 {source="Europe PMC"} xref: PMID:22171528 {source="Europe PMC"} xref: PMID:22237209 {source="Europe PMC"} xref: PMID:22299724 {source="Europe PMC"} xref: PMID:22356544 {source="Europe PMC"} xref: PMID:22447672 {source="Europe PMC"} xref: PMID:22483865 {source="Europe PMC"} xref: PMID:22567906 {source="Europe PMC"} xref: PMID:22685418 {source="Europe PMC"} xref: PMID:3654008 {source="Europe PMC"} xref: Reaxys:606623 {source="Reaxys"} xref: Wikipedia:Uracil is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H4N2O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H4N2O2/c7-3-1-2-5-4(8)6-3/h1-2H,(H2,5,6,7,8)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ISAKRJDGNUQOIC-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "112.08684" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "112.02728" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O=c1cc[nH]c(=O)[nH]1" xsd:string [Term] id: CHEBI:17596 name: inosine namespace: chebi_ontology alt_id: CHEBI:14456 alt_id: CHEBI:24841 alt_id: CHEBI:44407 alt_id: CHEBI:5927 def: "A purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond." [] subset: 3_STAR synonym: "(2R,3S,4R,5R)-2-(hydroxymethyl)-5-(6-hydroxy-9H-purin-9-yl)tetrahydrofuran-3,4-diol" EXACT IUPAC_NAME [IUPAC] synonym: "9-(beta-D-ribofuranosyl)-9H-purin-6-ol" EXACT IUPAC_NAME [IUPAC] synonym: "9-beta-D-ribofuranosyl-9H-purin-6-ol" RELATED [IUPAC] synonym: "9-beta-D-ribofuranosylhypoxanthine" RELATED [NIST_Chemistry_WebBook] synonym: "hypoxanthine D-riboside" RELATED [ChemIDplus] synonym: "hypoxanthosine" RELATED [ChemIDplus] synonym: "i" RELATED [ChEBI] synonym: "Inosin" RELATED [ChEBI] synonym: "inosina" RELATED INN [ChemIDplus] synonym: "INOSINE" EXACT [PDBeChem] synonym: "Inosine" EXACT [KEGG_COMPOUND] synonym: "inosine" EXACT [UniProt] synonym: "inosine" EXACT IUPAC_NAME [IUPAC] synonym: "inosine" RELATED INN [ChemIDplus] synonym: "inosinum" RELATED INN [ChemIDplus] xref: Beilstein:624889 {source="Beilstein"} xref: CAS:58-63-9 {source="ChemIDplus"} xref: CAS:58-63-9 {source="NIST Chemistry WebBook"} xref: CAS:58-63-9 {source="KEGG COMPOUND"} xref: Drug_Central:3301 {source="DrugCentral"} xref: ECMDB:ECMDB00195 xref: Gmelin:489332 {source="Gmelin"} xref: HMDB:HMDB0000195 xref: KEGG:C00294 xref: KEGG:D00054 xref: KNApSAcK:C00019692 xref: MetaCyc:INOSINE xref: PDBeChem:NOS xref: PMID:22770225 {source="Europe PMC"} xref: Reaxys:624889 {source="Reaxys"} xref: Wikipedia:Inosine xref: YMDB:YMDB00510 is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H12N4O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H12N4O5/c15-1-4-6(16)7(17)10(19-4)14-3-13-5-8(14)11-2-12-9(5)18/h2-4,6-7,10,15-17H,1H2,(H,11,12,18)/t4-,6-,7-,10-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UGQMRVRMYYASKQ-KQYNXXCUSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "268.22610" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "268.08077" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC[C@H]1O[C@H]([C@H](O)[C@@H]1O)n1cnc2c(O)ncnc12" xsd:string [Term] id: CHEBI:17632 name: nitrate namespace: chebi_ontology alt_id: CHEBI:14654 alt_id: CHEBI:44487 alt_id: CHEBI:71263 def: "A nitrogen oxoanion formed by loss of a proton from nitric acid. Principal species present at pH 7.3." [] subset: 3_STAR synonym: "[NO3](-)" RELATED [IUPAC] synonym: "nitrate" EXACT [UniProt] synonym: "nitrate" EXACT IUPAC_NAME [IUPAC] synonym: "NITRATE ION" RELATED [PDBeChem] synonym: "nitrate(1-)" RELATED [ChemIDplus] synonym: "NO3" RELATED [ChEBI] synonym: "NO3(-)" RELATED [IUPAC] synonym: "trioxidonitrate(1-)" EXACT IUPAC_NAME [IUPAC] synonym: "trioxonitrate(1-)" EXACT IUPAC_NAME [IUPAC] synonym: "trioxonitrate(V)" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:3587575 {source="Beilstein"} xref: CAS:14797-55-8 {source="ChemIDplus"} xref: CAS:14797-55-8 {source="NIST Chemistry WebBook"} xref: Gmelin:1574 {source="Gmelin"} xref: MetaCyc:NITRATE {source="SUBMITTER"} xref: PDBeChem:NO3 xref: Wikipedia:Nitrate is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/NO3/c2-1(3)4/q-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NHNBFGGVMKEFGY-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "62.00490" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "61.98837" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-][N+]([O-])=O" xsd:string [Term] id: CHEBI:17636 name: sphingomyelin d18:1 namespace: chebi_ontology alt_id: CHEBI:15101 alt_id: CHEBI:26740 alt_id: CHEBI:9223 def: "Any sphingomyelin having sphingosine as the sphingoid component." [] subset: 3_STAR synonym: "a sphingomyelin" RELATED [UniProt] synonym: "ceramide phosphocholine" RELATED [ChEBI] synonym: "N-acyl-4-sphingenyl-1-O-phosphorylcholines" RELATED [ChEBI] synonym: "Sphingomyelin" RELATED [KEGG_COMPOUND] synonym: "sphingomyelins" RELATED [ChEBI] xref: CiteXplore:3196084 xref: KEGG COMPOUND:C00550 xref: KEGG:C00550 xref: LIPID_MAPS_instance:LMSP03010000 {source="LIPID MAPS"} xref: MeSH:D013109 xref: PMID:3196084 {source="Europe PMC"} xref: SNOMEDCT:66524000 is_a: CHEBI:64583 ! sphingomyelin property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C24H48N2O6PR" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "491.622" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "491.32500" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O=P(OCC[N+](C)(C)C)(OC[C@H](NC(*)=O)[C@@H](/C=C/CCCCCCCCCCCCC)O)[O-]" xsd:string [Term] id: CHEBI:17649 name: hydroxymalonate(2-) namespace: chebi_ontology alt_id: CHEBI:11598 alt_id: CHEBI:14422 alt_id: CHEBI:19645 alt_id: CHEBI:46268 subset: 3_STAR synonym: "hydroxymalonate" RELATED [UniProt] synonym: "hydroxypropanedioate" EXACT IUPAC_NAME [IUPAC] synonym: "TARTRONATE" RELATED [PDBeChem] xref: DrugBank:DB03680 xref: Gmelin:325483 {source="Gmelin"} xref: KEGG:C02500 xref: PDBeChem:TTN is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H2O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H4O5/c4-1(2(5)6)3(7)8/h1,4H,(H,5,6)(H,7,8)/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ROBFUDYVXSDBQM-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "118.04498" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "117.99132" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(C([O-])=O)C([O-])=O" xsd:string [Term] id: CHEBI:17650 name: cortisol namespace: chebi_ontology alt_id: CHEBI:14023 alt_id: CHEBI:24633 alt_id: CHEBI:3893 alt_id: CHEBI:58221 def: "A 17alpha-hydroxy-C21-steroid that is pregn-4-ene substituted by oxo groups at positions 3 and 20 and hydroxy groups at positions 11, 17 and 21. Cortisol is a corticosteroid hormone or glucocorticoid produced by zona fasciculata of the adrenal cortex, which is a part of the adrenal gland. It is usually referred to as the \"stress hormone\" as it is involved in response to stress and anxiety, controlled by corticotropin-releasing hormone (CRH). It increases blood pressure and blood sugar, and reduces immune responses." [] subset: 3_STAR synonym: "(11beta)-11,17,21-trihydroxypregn-4-ene-3,20-dione" RELATED [NIST_Chemistry_WebBook] synonym: "11beta,17,21-trihydroxypregn-4-ene-3,20-dione" EXACT IUPAC_NAME [IUPAC] synonym: "11beta,17alpha,21-Trihydroxy-4-pregnene-3,20-dione" RELATED [KEGG_COMPOUND] synonym: "11beta,17alpha,21-trihydroxy-4-pregnene-3,20-dione" RELATED [NIST_Chemistry_WebBook] synonym: "11beta-hydrocortisone" RELATED [NIST_Chemistry_WebBook] synonym: "17-hydroxycorticosterone" RELATED [ChemIDplus] synonym: "4-pregnen-11beta,17alpha,21-triol-3,20-dione" RELATED [NIST_Chemistry_WebBook] synonym: "Cortisol" EXACT [KEGG_COMPOUND] synonym: "cortisol" EXACT [UniProt] synonym: "hidrocortisona" RELATED INN [ChemIDplus] synonym: "Hydrocortisone" RELATED [KEGG_COMPOUND] synonym: "hydrocortisone" RELATED INN [ChemIDplus] synonym: "hydrocortisonum" RELATED INN [ChemIDplus] synonym: "Kendall's compound F" RELATED [KEGG_COMPOUND] synonym: "Reichstein's substance M" RELATED [KEGG_COMPOUND] xref: Beilstein:1354819 {source="Beilstein"} xref: CAS:50-23-7 {source="NIST Chemistry WebBook"} xref: CAS:50-23-7 {source="KEGG COMPOUND"} xref: CAS:50-23-7 {source="ChemIDplus"} xref: Drug_Central:1388 {source="DrugCentral"} xref: DrugBank:DB00741 xref: KEGG:C00735 xref: KEGG:D00088 xref: LINCS:LSM-5980 xref: LIPID_MAPS_instance:LMST02030001 {source="LIPID MAPS"} xref: MeSH:D006854 xref: NCIt:C2290 xref: Patent:US2602769 xref: PDBeChem:HCY xref: PMID:10438974 {source="Europe PMC"} xref: PMID:2268561 {source="Europe PMC"} xref: SNOMEDCT:396458002 xref: Wikipedia:Hydrocortisone is_a: CHEBI:26764 ! steroid hormone relationship: has_role EFO:0001824 ! hormone role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C21H30O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C21H30O5/c1-19-7-5-13(23)9-12(19)3-4-14-15-6-8-21(26,17(25)11-22)20(15,2)10-16(24)18(14)19/h9,14-16,18,22,24,26H,3-8,10-11H2,1-2H3/t14-,15-,16-,18+,19-,20-,21-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JYGXADMDTFJGBT-VWUMJDOOSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "362.45990" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "362.20932" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12CCC3=CC(=O)CC[C@]3(C)[C@@]1([H])[C@@H](O)C[C@@]1(C)[C@@]2([H])CC[C@]1(O)C(=O)CO" xsd:string [Term] id: CHEBI:176648 name: Valine-d8 namespace: chebi_ontology subset: 2_STAR synonym: "(2S)-2,3,4,4,4-pentadeuterio-3-(deuteriomethyl)-2-(dideuterioamino)butanoic acid" EXACT IUPAC_NAME [SUBMITTER] xref: Chemspider:65998480 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H3D8NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H11NO2/c1-3(2)4(6)5(7)8/h3-4H,6H2,1-2H3,(H,7,8)/t4-/m0/s1/i1D,2D3,3D,4D/hD2/t3?,4-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KZSNJWFQEVHDMF-RGZIBPOXSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "125.197" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "125.12919" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)[C@@](N([2H])[2H])(C(C([2H])([2H])[2H])(C[2H])[2H])[2H]" xsd:string [Term] id: CHEBI:176650 name: Phenylalanine-d8 namespace: chebi_ontology subset: 2_STAR synonym: "(2S)-2,3,3-trideuterio-2-(dideuterioamino)-3-(2,3,4-trideuteriophenyl)propanoic acid" EXACT IUPAC_NAME [SUBMITTER] xref: Chemspider:65998789 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H3D8NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H11NO2/c10-8(9(11)12)6-7-4-2-1-3-5-7/h1-5,8H,6,10H2,(H,11,12)/t8-/m0/s1/i1D,2D,4D,6D2,8D/hD2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "COLNVLDHVKWLRT-DJYDEVFTSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "173.241" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "173.12919" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)[C@@](N([2H])[2H])(C(C1=C(C(=C(C=C1)[2H])[2H])[2H])([2H])[2H])[2H]" xsd:string [Term] id: CHEBI:17698 name: chloramphenicol namespace: chebi_ontology alt_id: CHEBI:13965 alt_id: CHEBI:23106 alt_id: CHEBI:23108 alt_id: CHEBI:3603 alt_id: CHEBI:47327 def: "An organochlorine compound that is dichloro-substituted acetamide containing a nitrobenzene ring, an amide bond and two alcohol functions." [] subset: 3_STAR synonym: "(-)-chloramphenicol" RELATED [ChEBI] synonym: "2,2-dichloro-N-[(1R,2R)-2-hydroxy-1-(hydroxymethyl)-2-(4-nitrophenyl)ethyl]acetamide" EXACT IUPAC_NAME [IUPAC] synonym: "Amphicol" RELATED BRAND_NAME [KEGG_DRUG] synonym: "Chloramex" RELATED BRAND_NAME [ChemIDplus] synonym: "CHLORAMPHENICOL" EXACT [PDBeChem] synonym: "Chloramphenicol" EXACT [KEGG_COMPOUND] synonym: "chloramphenicol" EXACT [UniProt] synonym: "chloramphenicol" RELATED INN [WHO_MedNet] synonym: "chloramphenicolum" RELATED INN [WHO_MedNet] synonym: "chlornitromycin" RELATED [ChEBI] synonym: "Chlorocid" RELATED BRAND_NAME [ChemIDplus] synonym: "Chlorocol" RELATED BRAND_NAME [ChemIDplus] synonym: "Chloromycetin" RELATED BRAND_NAME [ChemIDplus] synonym: "cloramfenicol" RELATED INN [WHO_MedNet] synonym: "D-(-)-2,2-dichloro-N-(beta-hydroxy-alpha-(hydroxymethyl)-p-nitrophenylethyl)acetamide" RELATED [ChemIDplus] synonym: "D-(-)-threo-1-p-nitrophenyl-2-dichloroacetylamino-1,3-propanediol" RELATED [ChemIDplus] synonym: "Econochlor" RELATED BRAND_NAME [KEGG_DRUG] synonym: "Fenicol" RELATED BRAND_NAME [ChemIDplus] synonym: "Globenicol" RELATED BRAND_NAME [ChemIDplus] synonym: "Halomycetin" RELATED BRAND_NAME [ChemIDplus] synonym: "laevomycetinum" RELATED [ChemIDplus] synonym: "levomicetina" RELATED [ChemIDplus] synonym: "levomycetin" RELATED [ChemIDplus] synonym: "Oleomycetin" RELATED BRAND_NAME [ChemIDplus] synonym: "Sificetina" RELATED BRAND_NAME [ChemIDplus] xref: Beilstein:2225532 {source="Beilstein"} xref: CAS:56-75-7 {source="NIST Chemistry WebBook"} xref: CAS:56-75-7 {source="ChemIDplus"} xref: Chemspider:5744 xref: Drug_Central:589 {source="DrugCentral"} xref: DrugBank:DB00446 xref: HMDB:HMDB0014589 xref: KEGG:C00918 xref: KEGG:D00104 xref: LINCS:LSM-5256 xref: MeSH:D002701 xref: MetaCyc:CHLORAMPHENICOL xref: NCIt:C363 xref: Patent:GB795131 xref: Patent:GB796901 xref: Patent:US2483871 xref: Patent:US2483884 xref: Patent:US2483892 xref: Patent:US2839577 xref: PDBeChem:CLM xref: Pesticides:chloramphenicol {source="Alan Wood's Pesticides"} xref: PMID:11468347 {source="Europe PMC"} xref: PMID:12217690 {source="Europe PMC"} xref: PMID:16659995 {source="Europe PMC"} xref: PMID:16897441 {source="Europe PMC"} xref: PMID:17217404 {source="Europe PMC"} xref: PMID:17692887 {source="Europe PMC"} xref: PMID:17963326 {source="Europe PMC"} xref: PMID:18559535 {source="Europe PMC"} xref: PMID:18657290 {source="Europe PMC"} xref: PMID:18794387 {source="Europe PMC"} xref: PMID:23142491 {source="Europe PMC"} xref: PMID:23317719 {source="Europe PMC"} xref: PMID:23395526 {source="Europe PMC"} xref: PMID:23494278 {source="Europe PMC"} xref: PMID:23512826 {source="Europe PMC"} xref: PMID:23698443 {source="Europe PMC"} xref: PMID:657786 {source="Europe PMC"} xref: PMID:6653106 {source="Europe PMC"} xref: PMID:7040026 {source="Europe PMC"} xref: SNOMEDCT:372777009 xref: SNOMEDCT:57191001 xref: VSDB:1835 xref: Wikipedia:Chloramphenicol is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:33281 ! antimicrobial agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C11H12Cl2N2O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C11H12Cl2N2O5/c12-10(13)11(18)14-8(5-16)9(17)6-1-3-7(4-2-6)15(19)20/h1-4,8-10,16-17H,5H2,(H,14,18)/t8-,9-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WIIZWVCIJKGZOK-RKDXNWHRSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "323.130" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "322.01233" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C1=C([C@H]([C@H](NC(C(Cl)Cl)=O)CO)O)C=CC(=C1)[N+]([O-])=O" xsd:string [Term] id: CHEBI:177104 name: (4E,8E,10E-d18:3)sphingosine namespace: chebi_ontology subset: 2_STAR synonym: "(2S,3R,4E,8E,10E)-2-aminooctadeca-4,8,10-triene-1,3-diol" EXACT IUPAC_NAME [SUBMITTER] xref: Chemspider:24823212 xref: LIPID_MAPS_instance:LMSP01080013 {source="LIPID MAPS"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H33NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H33NO2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-18(21)17(19)16-20/h8-11,14-15,17-18,20-21H,2-7,12-13,16,19H2,1H3/b9-8+,11-10+,15-14+/t17-,18+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PZVYDNWEQXJZPQ-IYAOGOEGSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "295.467" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "295.25113" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O[C@@H]([C@@H](N)CO)/C=C/CC\\C=C\\C=C\\CCCCCCC" xsd:string [Term] id: CHEBI:17724 name: N,N-dimethylglycine namespace: chebi_ontology alt_id: CHEBI:12426 alt_id: CHEBI:14173 alt_id: CHEBI:21455 alt_id: CHEBI:41993 alt_id: CHEBI:7077 def: "An N-methylglycine that is glycine carrying two N-methyl substituents." [] subset: 3_STAR synonym: "(dimethylamino)acetic acid" RELATED [IUPAC] synonym: "2-(Dimethylamino)acetic acid" RELATED [HMDB] synonym: "Dimethylglycine" RELATED [KEGG_COMPOUND] synonym: "N,N-Dimethylaminoacetic acid" RELATED [HMDB] synonym: "N,N-DIMETHYLGLYCINE" EXACT [PDBeChem] synonym: "N,N-Dimethylglycine" EXACT [KEGG_COMPOUND] synonym: "N,N-dimethylglycine" EXACT IUPAC_NAME [IUPAC] synonym: "N-Methylsarcosine" RELATED [HMDB] xref: CAS:1118-68-9 {source="ChemIDplus"} xref: CAS:1118-68-9 {source="KEGG COMPOUND"} xref: DrugBank:DB02083 xref: Gmelin:82215 {source="Gmelin"} xref: HMDB:HMDB0000092 xref: KEGG:C01026 xref: MetaCyc:DIMETHYL-GLYCINE xref: PDBeChem:DMG xref: PMID:17190852 {source="Europe PMC"} xref: PMID:21228267 {source="Europe PMC"} xref: PMID:22418088 {source="Europe PMC"} xref: PMID:22510294 {source="Europe PMC"} xref: Reaxys:1700261 {source="Reaxys"} is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H9NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H9NO2/c1-5(2)3-4(6)7/h3H2,1-2H3,(H,6,7)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FFDGPVCHZBVARC-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "103.11980" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "103.06333" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN(C)CC(O)=O" xsd:string [Term] id: CHEBI:17741 name: N,N-dimethylformamide namespace: chebi_ontology alt_id: CHEBI:12425 alt_id: CHEBI:21454 alt_id: CHEBI:42077 alt_id: CHEBI:7076 def: "A member of the class of formamides that is formamide in which the amino hydrogens are replaced by methyl groups." [] subset: 3_STAR synonym: "Dimethylformamide" RELATED [ChemIDplus] synonym: "DMF" RELATED [KEGG_COMPOUND] synonym: "N,N-Dimethylformamide" EXACT [KEGG_COMPOUND] synonym: "N,N-dimethylformamide" EXACT [UniProt] synonym: "N,N-dimethylformamide" EXACT IUPAC_NAME [IUPAC] synonym: "N,N-Dimethylmethanamide" RELATED [KEGG_COMPOUND] synonym: "N-Formyldimethylamine" RELATED [NIST_Chemistry_WebBook] xref: CAS:68-12-2 {source="ChemIDplus"} xref: CAS:68-12-2 {source="NIST Chemistry WebBook"} xref: CAS:68-12-2 {source="KEGG COMPOUND"} xref: DrugBank:DB01844 xref: HMDB:HMDB0001888 xref: KEGG:C03134 xref: MetaCyc:CPD-581 xref: PDBeChem:DMF xref: PMID:18666198 {source="Europe PMC"} xref: PMID:19608215 {source="Europe PMC"} xref: PMID:23313473 {source="Europe PMC"} xref: PMID:3824392 {source="Europe PMC"} xref: Reaxys:605365 {source="Reaxys"} xref: Wikipedia:Dimethylformamide is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H7NO" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H7NO/c1-4(2)3-5/h3H,1-2H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ZMXDDKWLCZADIW-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "73.09382" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "73.05276" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H]C(=O)N(C)C" xsd:string [Term] id: CHEBI:17747 name: bis(2-ethylhexyl) phthalate namespace: chebi_ontology alt_id: CHEBI:13911 alt_id: CHEBI:22889 alt_id: CHEBI:3116 def: "A phthalate ester that is the bis(2-ethylhexyl) ester of benzene-1,2-dicarboxylic acid." [] subset: 3_STAR synonym: "1,2-Benzenedicarboxylic acid bis(2-ethylhexyl) ester" RELATED [NIST_Chemistry_WebBook] synonym: "2-Ethylhexyl phthalate" RELATED [NIST_Chemistry_WebBook] synonym: "bis(2-ethylhexyl) benzene-1,2-dicarboxylate" EXACT IUPAC_NAME [IUPAC] synonym: "Bis(2-ethylhexyl) o-phthalate" RELATED [NIST_Chemistry_WebBook] synonym: "Bis(2-ethylhexyl)phthalate" RELATED [KEGG_COMPOUND] synonym: "bis(2-ethylhexyl)phthalate" RELATED [UniProt] synonym: "Bis(ethylhexyl) phthalate" RELATED [NIST_Chemistry_WebBook] synonym: "DEHP" RELATED [ChemIDplus] synonym: "DEHP" RELATED [KEGG_COMPOUND] synonym: "Di(2-ethylhexyl) o-phthalate" RELATED [NIST_Chemistry_WebBook] synonym: "Di(2-ethylhexyl)orthophthalate" RELATED [NIST_Chemistry_WebBook] synonym: "Di(2-ethylhexyl)phthalate" RELATED [KEGG_COMPOUND] synonym: "Di(2-ethylhexyl)phthalate" RELATED [ChemIDplus] synonym: "Di(ethylhexyl) phthalate" RELATED [NIST_Chemistry_WebBook] synonym: "di-iso-Octyl phthalate" RELATED [NIST_Chemistry_WebBook] synonym: "Di-sec-octyl phthalate" RELATED [ChemIDplus] synonym: "Di-sec-octyl phthalate" RELATED [NIST_Chemistry_WebBook] synonym: "Diethylhexyl phthalate" RELATED [ChemIDplus] synonym: "Dioctyl phthalate" RELATED [KEGG_COMPOUND] synonym: "Octyl phthalate" RELATED [NIST_Chemistry_WebBook] synonym: "Phthalic acid bis(2-ethylhexyl) ester" RELATED [NIST_Chemistry_WebBook] synonym: "Phthalic acid di(2-ethylhexyl) ester" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:1890696 {source="Beilstein"} xref: CAS:117-81-7 {source="KEGG COMPOUND"} xref: CAS:117-81-7 {source="ChemIDplus"} xref: CAS:117-81-7 {source="NIST Chemistry WebBook"} xref: KEGG:C03690 xref: MetaCyc:BIS2-ETHYLHEXYLPHTHALATE xref: PMID:12963402 {source="Europe PMC"} xref: PMID:16874505 {source="Europe PMC"} xref: PMID:17286146 {source="Europe PMC"} xref: PMID:19211671 {source="Europe PMC"} xref: PMID:19840837 {source="Europe PMC"} xref: PMID:28199414 {source="Europe PMC"} xref: PMID:28763719 {source="Europe PMC"} xref: Reaxys:1890696 {source="Reaxys"} xref: Wikipedia:Bis(2-ethylhexyl)_phthalate is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C24H38O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C24H38O4/c1-5-9-13-19(7-3)17-27-23(25)21-15-11-12-16-22(21)24(26)28-18-20(8-4)14-10-6-2/h11-12,15-16,19-20H,5-10,13-14,17-18H2,1-4H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BJQHLKABXJIVAM-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "390.55612" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "390.27701" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCC(CC)COC(=O)c1ccccc1C(=O)OCC(CC)CCCC" xsd:string [Term] id: CHEBI:17750 name: glycine betaine namespace: chebi_ontology alt_id: CHEBI:13895 alt_id: CHEBI:15264 alt_id: CHEBI:22858 alt_id: CHEBI:24370 alt_id: CHEBI:27128 alt_id: CHEBI:3073 def: "The amino acid betaine derived from glycine." [] subset: 3_STAR synonym: "(trimethylammonio)acetate" EXACT IUPAC_NAME [IUPAC] synonym: "(trimethylammoniumyl)acetate" RELATED [IUPAC] synonym: "1-carboxy-N,N,N-trimethylmethanaminium inner salt" RELATED [NIST_Chemistry_WebBook] synonym: "2-N,N,N-trimethylammonio acetate" RELATED [ChEBI] synonym: "abromine" RELATED [ChemIDplus] synonym: "acidol" RELATED [ChEBI] synonym: "Bet" RELATED [ChEBI] synonym: "Betaine" RELATED [KEGG_COMPOUND] synonym: "Glycine betaine" EXACT [KEGG_COMPOUND] synonym: "glycine betaine" EXACT [UniProt] synonym: "N,N,N-trimethylammonioacetate" RELATED [IUPAC] synonym: "N,N,N-Trimethylglycine" RELATED [KEGG_COMPOUND] synonym: "Trimethylaminoacetate" RELATED [KEGG_COMPOUND] synonym: "Trimethylammonioacetate" RELATED [KEGG_COMPOUND] synonym: "trimethylglycine" RELATED [ChEBI] synonym: "trimethylglycocoll" RELATED [ChemIDplus] xref: Beilstein:3537113 {source="Beilstein"} xref: CAS:107-43-7 {source="KEGG COMPOUND"} xref: CAS:107-43-7 {source="ChemIDplus"} xref: CAS:107-43-7 {source="NIST Chemistry WebBook"} xref: Drug_Central:347 {source="DrugCentral"} xref: Gmelin:26434 {source="Gmelin"} xref: HMDB:HMDB0000043 xref: KEGG:C00719 xref: KEGG:D07523 xref: KNApSAcK:C00007291 xref: MetaCyc:BETAINE xref: PDBeChem:BET xref: PMID:16197300 {source="Europe PMC"} xref: PMID:18326594 {source="Europe PMC"} xref: PMID:20346934 {source="Europe PMC"} xref: PMID:20446114 {source="Europe PMC"} xref: PMID:20642826 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: Reaxys:3537113 {source="Reaxys"} xref: Wikipedia:Trimethylglycine xref: YMDB:YMDB01516 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H11NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H11NO2/c1-6(2,3)4-5(7)8/h4H2,1-3H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KWIUHFFTVRNATP-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "117.14638" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "117.07898" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[N+](C)(C)CC([O-])=O" xsd:string [Term] id: CHEBI:17752 name: N(6)-acetyl-L-lysine namespace: chebi_ontology alt_id: CHEBI:12665 alt_id: CHEBI:21874 alt_id: CHEBI:40659 alt_id: CHEBI:7409 def: "An N(6)-acyl-L-lysine where the N(6)-acyl group is specified as acetyl." [] subset: 3_STAR synonym: "(2S)-6-(acetylamino)-2-aminohexanoic acid" RELATED [IUPAC] synonym: "N(6)-Acetyl-L-lysine" EXACT [ChemIDplus] synonym: "N(6)-acetyl-L-lysine" EXACT IUPAC_NAME [IUPAC] synonym: "N(6)-ACETYLLYSINE" RELATED [PDBeChem] synonym: "N(epsilon)-acetyl-L-lysine" RELATED [ChEBI] synonym: "N(zeta)-acetyl-L-lysine" RELATED [JCBN] synonym: "N(zeta)-acetyllysine" RELATED [ChEBI] synonym: "N-epsilon-Acetyl-L-lysine" RELATED [ChemIDplus] synonym: "N-Epsilon-acetyllysine" RELATED [ChemIDplus] synonym: "N6-Acetyl-L-lysine" RELATED [KEGG_COMPOUND] xref: Beilstein:1725438 {source="Beilstein"} xref: CAS:692-04-6 {source="ChemIDplus"} xref: CAS:692-04-6 {source="KEGG COMPOUND"} xref: Gmelin:747339 {source="Gmelin"} xref: HMDB:HMDB0000206 xref: KEGG:C02727 xref: MetaCyc:CPD-567 xref: PDBeChem:ALY xref: PMID:1285645 {source="Europe PMC"} xref: PMID:6790164 {source="Europe PMC"} xref: PMID:9169194 {source="Europe PMC"} xref: Reaxys:1725438 {source="Reaxys"} xref: Wikipedia:Acetyllysine is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H16N2O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H16N2O3/c1-6(11)10-5-3-2-4-7(9)8(12)13/h7H,2-5,9H2,1H3,(H,10,11)(H,12,13)/t7-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DTERQYGMUDWYAZ-ZETCQYMHSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "188.22432" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "188.11609" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(=O)NCCCC[C@H](N)C(O)=O" xsd:string [Term] id: CHEBI:17754 name: glycerol namespace: chebi_ontology alt_id: CHEBI:131422 alt_id: CHEBI:14334 alt_id: CHEBI:24351 alt_id: CHEBI:42998 alt_id: CHEBI:5448 def: "A triol with a structure of propane substituted at positions 1, 2 and 3 by hydroxy groups." [] subset: 3_STAR synonym: "1,2,3-Propanetriol" RELATED [KEGG_COMPOUND] synonym: "1,2,3-Trihydroxypropane" RELATED [KEGG_COMPOUND] synonym: "Glycerin" RELATED [KEGG_COMPOUND] synonym: "glycerine" RELATED [ChEBI] synonym: "Glyceritol" RELATED [HMDB] synonym: "GLYCEROL" EXACT [PDBeChem] synonym: "Glycerol" EXACT [KEGG_COMPOUND] synonym: "glycerol" EXACT [UniProt] synonym: "glycerol" EXACT [ChEBI] synonym: "glycerol" RELATED INN [ChemIDplus] synonym: "glycerolum" RELATED INN [ChemIDplus] synonym: "glycyl alcohol" RELATED [NIST_Chemistry_WebBook] synonym: "Glyzerin" RELATED [ChEBI] synonym: "Gro" RELATED [JCBN] synonym: "Oelsuess" RELATED [ChEBI] synonym: "propane-1,2,3-triol" EXACT IUPAC_NAME [IUPAC] synonym: "Propanetriol" RELATED [HMDB] synonym: "Trihydroxypropane" RELATED [HMDB] xref: Beilstein:635685 {source="Beilstein"} xref: CAS:56-81-5 {source="KEGG COMPOUND"} xref: CAS:56-81-5 {source="NIST Chemistry WebBook"} xref: CAS:56-81-5 {source="ChemIDplus"} xref: Chemspider:733 xref: Drug_Central:1316 {source="DrugCentral"} xref: DrugBank:DB04077 xref: ECMDB:ECMDB00131 xref: FooDB:FDB000756 xref: Gmelin:26279 {source="Gmelin"} xref: HMDB:HMDB0000131 xref: KEGG:C00116 xref: KEGG:D00028 xref: KNApSAcK:C00001163 xref: LINCS:LSM-37180 xref: MetaCyc:GLYCEROL xref: PDB:2AJS xref: PDB:2D03 xref: PDBeChem:GOL xref: PMID:11302662 {source="Europe PMC"} xref: PMID:11958517 {source="Europe PMC"} xref: PMID:11994365 {source="Europe PMC"} xref: PMID:12672239 {source="ChEMBL"} xref: PMID:12687625 {source="Europe PMC"} xref: PMID:12689633 {source="Europe PMC"} xref: PMID:12713573 {source="Europe PMC"} xref: PMID:14559393 {source="Europe PMC"} xref: PMID:14563847 {source="Europe PMC"} xref: PMID:15026783 {source="Europe PMC"} xref: PMID:15342117 {source="Europe PMC"} xref: PMID:15786693 {source="Europe PMC"} xref: PMID:15983192 {source="Europe PMC"} xref: PMID:16244855 {source="Europe PMC"} xref: PMID:16258193 {source="Europe PMC"} xref: PMID:16319039 {source="Europe PMC"} xref: PMID:16349488 {source="Europe PMC"} xref: PMID:16475911 {source="Europe PMC"} xref: PMID:16651733 {source="Europe PMC"} xref: PMID:16664750 {source="Europe PMC"} xref: PMID:16901854 {source="Europe PMC"} xref: PMID:17336832 {source="Europe PMC"} xref: PMID:17439666 {source="Europe PMC"} xref: PMID:17979222 {source="Europe PMC"} xref: PMID:19184438 {source="Europe PMC"} xref: PMID:19231894 {source="Europe PMC"} xref: PMID:19460032 {source="Europe PMC"} xref: PMID:19548674 {source="Europe PMC"} xref: PMID:19795216 {source="Europe PMC"} xref: PMID:19956799 {source="Europe PMC"} xref: PMID:22705534 {source="Europe PMC"} xref: PMID:23562176 {source="Europe PMC"} xref: PMID:23747440 {source="Europe PMC"} xref: PMID:24643482 {source="Europe PMC"} xref: PMID:24835191 {source="Europe PMC"} xref: PMID:25108762 {source="Europe PMC"} xref: PMID:558160 {source="Europe PMC"} xref: PMID:6299616 {source="Europe PMC"} xref: PMID:7031247 {source="ChEMBL"} xref: PMID:7392035 {source="ChEMBL"} xref: PPDB:1317 xref: Reaxys:635685 {source="Reaxys"} xref: UM-BBD_compID:c0066 {source="UM-BBD"} xref: Wikipedia:Glycerol xref: YMDB:YMDB00283 is_a: CHEBI:16646 ! carbohydrate property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H8O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H8O3/c4-1-3(6)2-5/h3-6H,1-2H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PEDCQBHIVMGVHV-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "92.09382" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "92.04734" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OCC(O)CO" xsd:string [Term] id: CHEBI:17755 name: cystathionine namespace: chebi_ontology alt_id: CHEBI:14059 alt_id: CHEBI:4048 def: "A modified amino acid generated by enzymic means from homocysteine and serine." [] subset: 3_STAR synonym: "2-amino-4-[(2-amino-2-carboxyethyl)sulfanyl]butanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "cystathione" RELATED [ChEBI] synonym: "Cystathionine" EXACT [KEGG_COMPOUND] synonym: "DL-Cystathionine" RELATED [ChemIDplus] synonym: "S-(2-amino-2-carboxyethyl)homocysteine" EXACT IUPAC_NAME [IUPAC] xref: CAS:535-34-2 {source="KEGG COMPOUND"} xref: CAS:535-34-2 {source="ChemIDplus"} xref: KEGG:C00542 xref: PMID:12907234 {source="Europe PMC"} xref: PMID:15033753 {source="Europe PMC"} xref: PMID:22212096 {source="Europe PMC"} xref: PMID:22264337 {source="Europe PMC"} xref: Reaxys:2416815 {source="Reaxys"} is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H14N2O4S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H14N2O4S/c8-4(6(10)11)1-2-14-3-5(9)7(12)13/h4-5H,1-3,8-9H2,(H,10,11)(H,12,13)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ILRYLPWNYFXEMH-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "222.26314" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "222.06743" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NC(CCSCC(N)C(O)=O)C(O)=O" xsd:string [Term] id: CHEBI:17761 name: ceramide namespace: chebi_ontology alt_id: CHEBI:12487 alt_id: CHEBI:13954 alt_id: CHEBI:23074 alt_id: CHEBI:7242 def: "Ceramides (N-acyl-sphingoid bases) are a major subclass of sphingoid base derivatives with an amide-linked fatty acid. The fatty acids are typically saturated or monounsaturated with chain lengths from 14 to 26 carbon atoms; the presence of a hydroxyl group on carbon 2 is fairly common. Ceramides are generally precursors of more complex sphingolipids. In the illustrated generalised structure, R(1) = OH, OX (where X = acyl, glycosyl, phosphate, phosphonate, etc.), or H." [] subset: 3_STAR synonym: "a ceramide" RELATED [UniProt] synonym: "Cer" RELATED [CBN] synonym: "Ceramide" EXACT [KEGG_COMPOUND] synonym: "ceramides" RELATED [ChEBI] synonym: "N-acylated sphingoid" RELATED [CBN] xref: CiteXplore:7542630 xref: KEGG COMPOUND:C00195 xref: KEGG:C00195 xref: LIPID_MAPS_class:LMSP02 {source="LIPID MAPS"} xref: MeSH:D002518 xref: NCIt:C359 xref: PMID:7542630 {source="Europe PMC"} xref: SNOMEDCT:37112001 xref: Wikipedia:Ceramide is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H6NO2R3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "100.09590" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "100.03985" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O[C@H]([*])[C@H](C[*])NC([*])=O" xsd:string [Term] id: CHEBI:17768 name: N-acetylputrescine namespace: chebi_ontology alt_id: CHEBI:12473 alt_id: CHEBI:21629 alt_id: CHEBI:7222 def: "An N-monoacetylalkane-alpha,omega-diamine that is the N-monoacetyl derivative of putrescine." [] subset: 3_STAR synonym: "N-(4-aminobutyl)acetamide" EXACT IUPAC_NAME [IUPAC] synonym: "N-Acetylputrescine" EXACT [KEGG_COMPOUND] xref: CAS:18233-70-0 {source="KEGG COMPOUND"} xref: CAS:5699-41-2 {source="ChemIDplus"} xref: CAS:5699-41-2 {source="KEGG COMPOUND"} xref: HMDB:HMDB0002064 xref: KEGG:C02714 xref: MetaCyc:CPD-569 xref: PMID:10198034 {source="Europe PMC"} xref: PMID:15073218 {source="Europe PMC"} xref: PMID:16232710 {source="Europe PMC"} xref: PMID:197226 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: PMID:23081916 {source="Europe PMC"} xref: PMID:2320051 {source="Europe PMC"} xref: PMID:2775189 {source="Europe PMC"} xref: PMID:3627168 {source="Europe PMC"} xref: PMID:6257381 {source="Europe PMC"} xref: PMID:7092834 {source="Europe PMC"} xref: PMID:7406885 {source="Europe PMC"} xref: PMID:7630314 {source="Europe PMC"} xref: PMID:7663691 {source="Europe PMC"} xref: PMID:7817785 {source="Europe PMC"} xref: PMID:8441357 {source="Europe PMC"} xref: PMID:894508 {source="Europe PMC"} xref: PMID:8955325 {source="Europe PMC"} xref: Reaxys:1749697 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H14N2O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H14N2O/c1-6(9)8-5-3-2-4-7/h2-5,7H2,1H3,(H,8,9)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KLZGKIDSEJWEDW-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "130.18824" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "130.11061" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(=O)NCCCCN" xsd:string [Term] id: CHEBI:17771 name: trans-urocanate namespace: chebi_ontology alt_id: CHEBI:15298 def: "A urocanate obtained by deprotonation of the carboxy group of trans-urocanic acid; major species at pH 7.3." [] subset: 3_STAR synonym: "(2E)-3-(1H-imidazol-4-yl)prop-2-enoate" EXACT IUPAC_NAME [IUPAC] synonym: "(E)-3-(imidazol-4-yl)propenoate" RELATED [IUBMB] synonym: "trans-urocanate" EXACT [UniProt] xref: Beilstein:5735282 {source="Beilstein"} xref: Reaxys:5735282 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H5N2O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H6N2O2/c9-6(10)2-1-5-3-7-4-8-5/h1-4H,(H,7,8)(H,9,10)/p-1/b2-1+" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LOIYMIARKYCTBW-OWOJBTEDSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "137.11618" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "137.03565" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-]C(=O)\\C=C\\c1c[nH]cn1" xsd:string [Term] id: CHEBI:17774 name: pimelate(1-) namespace: chebi_ontology alt_id: CHEBI:12209 alt_id: CHEBI:20708 alt_id: CHEBI:2175 def: "A dicarboxylic acid monoanion that is the conjugate base of pimelic acid." [] subset: 3_STAR synonym: "6-carboxyhexanoate" EXACT IUPAC_NAME [IUPAC] synonym: "heptanedioate" RELATED [ChEBI] synonym: "hydrogen pimelate" RELATED [ChEBI] synonym: "Pimelate" RELATED [KEGG_COMPOUND] xref: Gmelin:1449709 {source="Gmelin"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H11O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H12O4/c8-6(9)4-2-1-3-5-7(10)11/h1-5H2,(H,8,9)(H,10,11)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WLJVNTCWHIRURA-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "159.15984" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "159.06628" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)CCCCCC([O-])=O" xsd:string [Term] id: CHEBI:17786 name: N-acetyl-L-leucine namespace: chebi_ontology alt_id: CHEBI:12463 alt_id: CHEBI:21556 alt_id: CHEBI:7154 alt_id: CHEBI:90094 def: "The N-acetyl derivative of L-leucine." [] subset: 3_STAR synonym: "(2S)-2-(acetylamino)-4-methylpentanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "acetylleucine" RELATED [ChemIDplus] synonym: "N-Acetyl-L-leucine" EXACT [KEGG_COMPOUND] synonym: "N-acetyl-L-leucine" EXACT IUPAC_NAME [IUPAC] synonym: "N-acetyl-Leu" RELATED [NIST_Chemistry_WebBook] synonym: "N-acetylleucine" EXACT IUPAC_NAME [IUPAC] synonym: "N-acetylleucine" RELATED [ChemIDplus] xref: Beilstein:1724849 {source="Beilstein"} xref: CAS:1188-21-2 {source="NIST Chemistry WebBook"} xref: CAS:1188-21-2 {source="ChemIDplus"} xref: CAS:1188-21-2 {source="KEGG COMPOUND"} xref: Chemspider:1918 xref: Gmelin:985259 {source="Gmelin"} xref: HMDB:HMDB0011756 xref: KEGG:C02710 xref: LINCS:LSM-20975 xref: MetaCyc:CPD-433 xref: PMID:21185819 {source="Europe PMC"} xref: PMID:22227165 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: PMID:3473611 {source="Europe PMC"} xref: Reaxys:1724849 {source="Reaxys"} xref: Wikipedia:Acetylleucine is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H15NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H15NO3/c1-5(2)4-7(8(11)12)9-6(3)10/h5,7H,4H2,1-3H3,(H,9,10)(H,11,12)/t7-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WXNXCEHXYPACJF-ZETCQYMHSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "173.210" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "173.10519" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C@@H](CC(C)C)(NC(=O)C)C(O)=O" xsd:string [Term] id: CHEBI:17790 name: methanol namespace: chebi_ontology alt_id: CHEBI:14588 alt_id: CHEBI:25227 alt_id: CHEBI:44080 alt_id: CHEBI:44553 alt_id: CHEBI:6816 def: "The primary alcohol that is the simplest aliphatic alcohol, comprising a methyl and an alcohol group." [] subset: 3_STAR synonym: "carbinol" RELATED [ChemIDplus] synonym: "CH3OH" RELATED [ChEBI] synonym: "MeOH" RELATED [ChEBI] synonym: "METHANOL" EXACT [PDBeChem] synonym: "Methanol" EXACT [KEGG_COMPOUND] synonym: "methanol" EXACT [UniProt] synonym: "methanol" EXACT IUPAC_NAME [IUPAC] synonym: "Methyl alcohol" RELATED [KEGG_COMPOUND] synonym: "Methylalkohol" RELATED [NIST_Chemistry_WebBook] synonym: "spirit of wood" RELATED [HMDB] synonym: "wood alcohol" RELATED [ChemIDplus] synonym: "wood naphtha" RELATED [ChemIDplus] synonym: "wood spirit" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:1098229 {source="Beilstein"} xref: CAS:67-56-1 {source="KEGG COMPOUND"} xref: CAS:67-56-1 {source="NIST Chemistry WebBook"} xref: CAS:67-56-1 {source="ChemIDplus"} xref: Gmelin:449 {source="Gmelin"} xref: HMDB:HMDB0001875 xref: KEGG:C00132 xref: KEGG:D02309 xref: MetaCyc:METOH xref: PDBeChem:MOH xref: PMID:11141607 {source="Europe PMC"} xref: PMID:11430978 {source="Europe PMC"} xref: PMID:11489599 {source="Europe PMC"} xref: PMID:11680737 {source="Europe PMC"} xref: PMID:11684179 {source="Europe PMC"} xref: PMID:14012711 {source="Europe PMC"} xref: PMID:14678513 {source="Europe PMC"} xref: PMID:14760634 {source="Europe PMC"} xref: PMID:15172721 {source="Europe PMC"} xref: PMID:15906011 {source="Europe PMC"} xref: PMID:16705261 {source="Europe PMC"} xref: PMID:17451998 {source="Europe PMC"} xref: PMID:17733096 {source="Europe PMC"} xref: PMID:19064074 {source="Europe PMC"} xref: PMID:19850112 {source="Europe PMC"} xref: PMID:20314698 {source="Europe PMC"} xref: Reaxys:1098229 {source="Reaxys"} xref: UM-BBD_compID:c0132 {source="UM-BBD"} xref: Wikipedia:Methanol is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "CH4O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/CH4O/c1-2/h2H,1H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OKKJLVBELUTLKV-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "32.04186" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "32.02621" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CO" xsd:string [Term] id: CHEBI:17802 name: pseudouridine namespace: chebi_ontology alt_id: CHEBI:14964 alt_id: CHEBI:26364 alt_id: CHEBI:8610 def: "A C-glycosyl pyrimidine that consists of uracil having a beta-D-ribofuranosyl residue attached at position 5. The C-glycosyl isomer of the nucleoside uridine." [] subset: 3_STAR synonym: "(1S)-1,4-anhydro-1-(2,4-dioxo-1,2,3,4-tetrahydropyrimidin-5-yl)-D-ribitol" RELATED [ChEBI] synonym: "5-(beta-D-ribofuranosyl)pyrimidine-2,4(1H,3H)-dione" EXACT IUPAC_NAME [IUPAC] synonym: "5-(beta-D-ribofuranosyl)uracil" RELATED [ChEBI] synonym: "beta-Pseudouridine" RELATED [HMDB] synonym: "p" RELATED [ChEBI] synonym: "Pseudouridine" EXACT [KEGG_COMPOUND] synonym: "pseudouridine" EXACT [UniProt] synonym: "Psi-uridine" RELATED [ChEBI] xref: Beilstein:32779 {source="Beilstein"} xref: CAS:1445-07-4 {source="KEGG COMPOUND"} xref: CAS:1445-07-4 {source="ChemIDplus"} xref: HMDB:HMDB0000767 xref: KEGG:C02067 xref: KNApSAcK:C00001508 xref: MetaCyc:CPD-497 xref: PMID:12810910 {source="Europe PMC"} xref: PMID:13811056 {source="Europe PMC"} xref: PMID:15199136 {source="Europe PMC"} xref: PMID:15739475 {source="Europe PMC"} xref: PMID:16236171 {source="Europe PMC"} xref: PMID:18620915 {source="Europe PMC"} xref: PMID:21628430 {source="Europe PMC"} xref: PMID:21953190 {source="Europe PMC"} xref: PMID:21960742 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: Reaxys:621385 {source="Reaxys"} xref: Wikipedia:Pseudouridine is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H12N2O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H12N2O6/c12-2-4-5(13)6(14)7(17-4)3-1-10-9(16)11-8(3)15/h1,4-7,12-14H,2H2,(H2,10,11,15,16)/t4-,5-,6-,7+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PTJWIQPHWPFNBW-GBNDHIKLSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "244.20146" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "244.06954" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC[C@H]1O[C@H]([C@H](O)[C@@H]1O)c1c[nH]c(=O)[nH]c1=O" xsd:string [Term] id: CHEBI:17822 name: serine namespace: chebi_ontology alt_id: CHEBI:15081 alt_id: CHEBI:26648 alt_id: CHEBI:9116 def: "An alpha-amino acid that is alanine substituted at position 3 by a hydroxy group." [] subset: 3_STAR synonym: "2-amino-3-hydroxypropanoic acid" RELATED [IUPAC] synonym: "2-Amino-3-hydroxypropionic acid" RELATED [KEGG_COMPOUND] synonym: "3-Hydroxyalanine" RELATED [KEGG_COMPOUND] synonym: "Serin" RELATED [ChEBI] synonym: "Serine" EXACT [KEGG_COMPOUND] synonym: "serine" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:1721402 {source="Beilstein"} xref: CAS:302-84-1 {source="NIST Chemistry WebBook"} xref: CAS:302-84-1 {source="ChemIDplus"} xref: CAS:302-84-1 {source="KEGG COMPOUND"} xref: Gmelin:26429 {source="Gmelin"} xref: KEGG:C00716 xref: KNApSAcK:C00001393 xref: Reaxys:1721402 {source="Reaxys"} xref: Wikipedia:Serine is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H7NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H7NO3/c4-2(1-5)3(6)7/h2,5H,1,4H2,(H,6,7)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "MTCFGRXMJLQNBG-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "105.09262" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "105.04259" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NC(CO)C(O)=O" xsd:string [Term] id: CHEBI:17823 name: calcitriol namespace: chebi_ontology alt_id: CHEBI:13932 alt_id: CHEBI:19209 alt_id: CHEBI:3307 alt_id: CHEBI:46435 def: "A hydroxycalciol that is calcidiol in which the pro-S hydrogen of calcidiol is replaced by a hydroxy group. It is the active form of vitamin D3, produced fom calciol via hydoxylation in the liver to form calcidiol, which is subsequently oxidised in the kidney to give calcitriol." [] subset: 3_STAR synonym: "(1alpha,3beta,5Z,7E)-9,10-secocholesta-5,7,10(19)-triene-1,3,25-triol" RELATED [ChemIDplus] synonym: "(1S,3R,5Z,7E)-9,10-secocholesta-5,7,10(19)-triene-1,3,25-triol" EXACT IUPAC_NAME [IUPAC] synonym: "(1S,3R,5Z,7E)-9,10-secocholesta-5,7,10-triene-1,3,25-triol" RELATED [PDBeChem] synonym: "(5Z,7E)-(1S,3R)-9,10-secocholesta-5,7,10(19)-triene-1,3,25-triol" RELATED [JCBN] synonym: "1,25-DHCC" RELATED [ChemIDplus] synonym: "1-alpha-25-Dihydroxyvitamin D3" RELATED [KEGG_COMPOUND] synonym: "1alpha,25(OH)2D3" RELATED [ChEBI] synonym: "1alpha,25-dihydroxycholecalciferol" RELATED [JCBN] synonym: "1alpha,25-dihydroxyvitamin D3" RELATED [ChemIDplus] synonym: "5-{2-[1-(5-HYDROXY-1,5-DIMETHYL-HEXYL)-7A-METHYL-OCTAHYDRO-INDEN-4-YLIDENE]-ETHYLIDENE}-4-METHYLENE-CYCLOHEXANE-1,3-DIOL" RELATED [PDBeChem] synonym: "Calcijex" RELATED BRAND_NAME [DrugBank] synonym: "Calcitriol" EXACT [KEGG_COMPOUND] synonym: "calcitriol" EXACT [UniProt] synonym: "calcitriol" RELATED INN [ChEBI] synonym: "calcitriol" RELATED INN [WHO_MedNet] synonym: "calcitriolum" RELATED INN [ChEBI] synonym: "Decostriol" RELATED BRAND_NAME [DrugBank] synonym: "Rocaltrol" RELATED BRAND_NAME [KEGG_DRUG] xref: Beilstein:2227647 {source="Beilstein"} xref: CAS:32222-06-3 {source="KEGG COMPOUND"} xref: CAS:32222-06-3 {source="ChemIDplus"} xref: Drug_Central:466 {source="DrugCentral"} xref: DrugBank:DB00136 xref: KEGG:C01673 xref: KEGG:D00129 xref: LIPID_MAPS_instance:LMST03020258 {source="LIPID MAPS"} xref: MeSH:D002117 xref: MetaCyc:CALCITRIOL xref: NCIt:C330 xref: PDBeChem:VDX xref: PMID:10217585 {source="Europe PMC"} xref: PMID:15928596 {source="Europe PMC"} xref: PMID:19429426 {source="Europe PMC"} xref: PMID:20599255 {source="Europe PMC"} xref: PMID:22905919 {source="Europe PMC"} xref: PMID:23103122 {source="Europe PMC"} xref: PMID:23144765 {source="Europe PMC"} xref: PMID:6687801 {source="Europe PMC"} xref: Reaxys:2227647 {source="Reaxys"} xref: Wikipedia:Calcitriol is_a: CHEBI:27300 ! vitamin D relationship: has_role CHEBI:33229 ! vitamin (role) property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C27H44O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C27H44O3/c1-18(8-6-14-26(3,4)30)23-12-13-24-20(9-7-15-27(23,24)5)10-11-21-16-22(28)17-25(29)19(21)2/h10-11,18,22-25,28-30H,2,6-9,12-17H2,1,3-5H3/b20-10+,21-11-/t18-,22-,23-,24+,25+,27-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GMRQFYUYWCNGIN-NKMMMXOESA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "416.63646" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "416.32905" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]1(CC[C@@]2([H])\\C(CCC[C@]12C)=C\\C=C1\\C[C@@H](O)C[C@H](O)C1=C)[C@H](C)CCCC(C)(C)O" xsd:string [Term] id: CHEBI:17833 name: gentamycin namespace: chebi_ontology alt_id: CHEBI:14293 alt_id: CHEBI:24206 alt_id: CHEBI:24212 alt_id: CHEBI:5306 def: "Any of a group of aminoglycoside antibiotics produced by fermentation of some Micromonospora spp." [] subset: 3_STAR synonym: "4,6-diamino-3-[3-deoxy-4-C-methyl-3-(methylamino)pentopyranosyloxy]-2-hydroxycyclohexyl 2-amino-2,3,4,6,7-pentadeoxy-6-(methylamino)heptopyranoside" EXACT IUPAC_NAME [IUPAC] synonym: "Gentamicin" RELATED [KEGG_COMPOUND] synonym: "gentamycins" RELATED [ChEBI] xref: CAS:1403-66-3 {source="KEGG COMPOUND"} xref: DrugBank:DB00798 xref: KEGG:C00505 xref: NCIt:C519 xref: SNOMEDCT:387321007 xref: SNOMEDCT:57752001 is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:33281 ! antimicrobial agent [Term] id: CHEBI:178484 name: Diacetylspermine namespace: chebi_ontology subset: 2_STAR synonym: "N-[3-[4-(3-acetamidopropylamino)butylamino]propyl]acetamide;dihydrochloride" EXACT IUPAC_NAME [SUBMITTER] xref: CAS:77928-71-3 {source="ChemIDplus"} xref: Chemspider:117133 xref: HMDB:HMDB0041876 xref: KEGG:C03413 xref: MetaCyc:CPD-11268 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C14H30N4O2.ClH.ClH" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C14H30N4O2.2ClH/c1-13(19)17-11-5-9-15-7-3-4-8-16-10-6-12-18-14(2)20;;/h15-16H,3-12H2,1-2H3,(H,17,19)(H,18,20);2*1H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NQNXERHVLXYXRO-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "359.340" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "358.19023" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cl.Cl.O=C(NCCCNCCCCNCCCNC(=O)C)C" xsd:string [Term] id: CHEBI:17855 name: triglyceride namespace: chebi_ontology alt_id: CHEBI:15255 alt_id: CHEBI:27085 alt_id: CHEBI:9664 def: "Any glyceride resulting from the condensation of all three hydroxy groups of glycerol (propane-1,2,3-triol) with fatty acids." [] subset: 3_STAR synonym: "a triacylglycerol" RELATED [UniProt] synonym: "Triacylglycerol" RELATED [KEGG_COMPOUND] synonym: "triacylglycerols" RELATED [LIPID_MAPS] synonym: "Triglycerid" RELATED [ChEBI] synonym: "Triglyceride" EXACT [KEGG_COMPOUND] synonym: "triglycerides" EXACT IUPAC_NAME [IUPAC] synonym: "triglycerides" RELATED [ChEBI] synonym: "Triglyzerid" RELATED [ChEBI] xref: KEGG COMPOUND:C00422 xref: KEGG:C00422 xref: LIPID_MAPS_class:LMGL0301 {source="LIPID MAPS"} xref: MeSH:D014280 xref: NCIt:C906 xref: PMID:2474544 {source="Europe PMC"} xref: SNOMEDCT:85600001 is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H5O6R3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "173.10030" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "173.00861" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]C(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:17859 name: glutaric acid namespace: chebi_ontology alt_id: CHEBI:24330 alt_id: CHEBI:43097 alt_id: CHEBI:5434 def: "An alpha,omega-dicarboxylic acid that is a linear five-carbon dicarboxylic acid." [] subset: 3_STAR synonym: "1,3-Propanedicarboxylic acid" RELATED [KEGG_COMPOUND] synonym: "1,5-pentanedioic acid" RELATED [NIST_Chemistry_WebBook] synonym: "GLUTARIC ACID" EXACT [PDBeChem] synonym: "Glutaric acid" EXACT [KEGG_COMPOUND] synonym: "Glutarsaeure" RELATED [ChEBI] synonym: "Pentanedioic acid" RELATED [KEGG_COMPOUND] synonym: "pentanedioic acid" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:1209725 {source="Beilstein"} xref: CAS:110-94-1 {source="KEGG COMPOUND"} xref: CAS:110-94-1 {source="NIST Chemistry WebBook"} xref: CAS:110-94-1 {source="ChemIDplus"} xref: DrugBank:DB03553 xref: Gmelin:26809 {source="Gmelin"} xref: HMDB:HMDB0000661 xref: KEGG:C00489 xref: KNApSAcK:C00001184 xref: LIPID_MAPS_instance:LMFA01170046 {source="LIPID MAPS"} xref: PDBeChem:GUA xref: PMID:24297153 {source="Europe PMC"} xref: PMID:24587932 {source="Europe PMC"} xref: PMID:24900967 {source="Europe PMC"} xref: Reaxys:1209725 {source="Reaxys"} xref: Wikipedia:Glutaric_acid is_a: CHEBI:18059 ! lipid is_a: EFO:0004416 ! acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H8O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H8O4/c6-4(7)2-1-3-5(8)9/h1-3H2,(H,6,7)(H,8,9)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JFCQEDHGNNZCLN-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "132.11462" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "132.04226" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)CCCC(O)=O" xsd:string [Term] id: CHEBI:17864 name: taurolithocholic acid sulfate namespace: chebi_ontology alt_id: CHEBI:15200 alt_id: CHEBI:1716 alt_id: CHEBI:26858 alt_id: CHEBI:9412 def: "The steroid sulfate of taurolithocholic acid." [] subset: 3_STAR synonym: "(3alpha-sulfato-5beta-cholan-24-oyl)-2'-aminoethanesulfonate" RELATED [ChemIDplus] synonym: "2-[(24-oxo-3alpha-sulfooxy-5beta-cholan-24-yl)amino]ethanesulfonic acid" EXACT IUPAC_NAME [IUPAC] synonym: "3alpha-Sulfatolithocholyltaurine" RELATED [KEGG_COMPOUND] synonym: "Slct-3-sulfate" RELATED [ChemIDplus] synonym: "Taurolithocholate 3-sulfate" RELATED [HMDB] synonym: "Taurolithocholate sulfate" RELATED [KEGG_COMPOUND] synonym: "Taurolithocholic acid 3-sulfate" RELATED [KEGG_COMPOUND] synonym: "TLC-S" RELATED [ChemIDplus] xref: Beilstein:9174999 {source="Beilstein"} xref: CAS:15324-65-9 {source="KEGG COMPOUND"} xref: CAS:15324-65-9 {source="ChemIDplus"} xref: HMDB:HMDB0002580 xref: KEGG:C03642 xref: LIPID_MAPS_instance:LMST05020003 {source="LIPID MAPS"} xref: PMID:24177139 {source="Europe PMC"} xref: PMID:8437507 {source="Europe PMC"} xref: PMID:871063 {source="Europe PMC"} xref: PMID:894140 {source="Europe PMC"} xref: Reaxys:9174999 {source="Reaxys"} is_a: CHEBI:35341 ! steroid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C26H45NO8S2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C26H45NO8S2/c1-17(4-9-24(28)27-14-15-36(29,30)31)21-7-8-22-20-6-5-18-16-19(35-37(32,33)34)10-12-25(18,2)23(20)11-13-26(21,22)3/h17-23H,4-16H2,1-3H3,(H,27,28)(H,29,30,31)(H,32,33,34)/t17-,18-,19-,20+,21-,22+,23+,25+,26-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HSNPMXROZIQAQD-GBURMNQMSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "563.76944" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "563.25866" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]12CC[C@@]3([H])[C@]4([H])CC[C@]([H])([C@H](C)CCC(=O)NCCS(O)(=O)=O)[C@@]4(C)CC[C@]3([H])[C@@]1(C)CC[C@H](C2)OS(O)(=O)=O" xsd:string [Term] id: CHEBI:17865 name: 4-methyl-2-oxopentanoate namespace: chebi_ontology alt_id: CHEBI:12020 alt_id: CHEBI:20438 def: "A 2-oxo monocarboxylic acid anion that is the conjugate base of 4-methyl-2-oxopentanoic acid." [] subset: 3_STAR synonym: "2-Oxoisocaproate" RELATED [KEGG_COMPOUND] synonym: "4-methyl-2-oxopentanoate" EXACT [UniProt] synonym: "4-methyl-2-oxopentanoate" EXACT IUPAC_NAME [IUPAC] synonym: "alpha-ketoisocaproate" RELATED [ChEBI] xref: Beilstein:3904096 {source="Beilstein"} xref: KEGG:C00233 xref: Reaxys:3904096 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H9O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H10O3/c1-4(2)3-5(7)6(8)9/h4H,3H2,1-2H3,(H,8,9)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BKAJNAXTPSGJCU-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "129.13386" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "129.05572" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)CC(=O)C([O-])=O" xsd:string [Term] id: CHEBI:17879 name: 4-hydroxybenzoate namespace: chebi_ontology alt_id: CHEBI:12003 alt_id: CHEBI:20397 def: "The conjugate base of 4-hydroxybenzoic acid, comprising a 4-hydroxybenzoic acid core with a proton missing to give a charge of -1." [] subset: 3_STAR synonym: "4-hydroxybenzoate" EXACT [UniProt] synonym: "4-hydroxybenzoate" EXACT IUPAC_NAME [IUPAC] synonym: "4-hydroxybenzoic acid, ion(1-)" RELATED [ChemIDplus] synonym: "p-hydroxybenzoate" RELATED [ChemIDplus] xref: Beilstein:3589159 {source="Beilstein"} xref: CAS:456-23-5 {source="ChemIDplus"} xref: Gmelin:326508 {source="Gmelin"} xref: KEGG:C00156 xref: Reaxys:3589159 {source="Reaxys"} xref: UM-BBD_compID:c0104 {source="UM-BBD"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H5O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H6O3/c8-6-3-1-5(2-4-6)7(9)10/h1-4,8H,(H,9,10)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FJKROLUGYXJWQN-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "137.11280" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "137.02442" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Oc1ccc(cc1)C([O-])=O" xsd:string [Term] id: CHEBI:17883 name: hydrogen chloride namespace: chebi_ontology alt_id: CHEBI:13364 alt_id: CHEBI:24635 alt_id: CHEBI:5590 def: "A mononuclear parent hydride consisting of covalently bonded hydrogen and chlorine atoms." [] subset: 3_STAR synonym: "[HCl]" RELATED [IUPAC] synonym: "chlorane" EXACT IUPAC_NAME [IUPAC] synonym: "chloridohydrogen" EXACT IUPAC_NAME [IUPAC] synonym: "chlorure d'hydrogene" RELATED [ChEBI] synonym: "Chlorwasserstoff" RELATED [ChEBI] synonym: "cloruro de hidrogeno" RELATED [ChEBI] synonym: "HCl" RELATED [KEGG_COMPOUND] synonym: "hydrochloric acid" RELATED [ChemIDplus] synonym: "Hydrochloride" RELATED [KEGG_COMPOUND] synonym: "Hydrogen chloride" EXACT [KEGG_COMPOUND] synonym: "hydrogen chloride" EXACT IUPAC_NAME [IUPAC] synonym: "Hydrogenchlorid" RELATED [ChEBI] synonym: "Wasserstoffchlorid" RELATED [ChEBI] xref: CAS:7647-01-0 {source="ChemIDplus"} xref: CAS:7647-01-0 {source="NIST Chemistry WebBook"} xref: CAS:7647-01-0 {source="KEGG COMPOUND"} xref: Drug_Central:4568 {source="DrugCentral"} xref: Gmelin:322 {source="Gmelin"} xref: HMDB:HMDB0002306 xref: KEGG:C01327 xref: KEGG:D02057 xref: MeSH:D006851 xref: MetaCyc:HCL xref: NCIt:C76716 xref: PMID:15823700 {source="Europe PMC"} xref: PMID:17492841 {source="Europe PMC"} xref: PMID:22804993 {source="Europe PMC"} xref: Reaxys:1098214 {source="Reaxys"} xref: SNOMEDCT:27763000 xref: SNOMEDCT:420502008 xref: Wikipedia:HCl xref: Wikipedia:Hydrochloric_acid is_a: EFO:0004416 ! acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "ClH" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "HCl" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/ClH/h1H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VEXZGXHMUGYJMC-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "36.46064" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "35.97668" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cl[H]" xsd:string [Term] id: CHEBI:17925 name: alpha-D-glucose namespace: chebi_ontology alt_id: CHEBI:10242 alt_id: CHEBI:12318 alt_id: CHEBI:22386 alt_id: CHEBI:40557 alt_id: CHEBI:42802 def: "D-Glucopyranose having alpha-configuration at the anomeric centre." [] subset: 3_STAR synonym: "alpha-D-Glc" RELATED [ChEBI] synonym: "alpha-D-glucopyranose" EXACT IUPAC_NAME [IUPAC] synonym: "ALPHA-D-GLUCOSE" EXACT [PDBeChem] synonym: "alpha-D-Glucose" EXACT [KEGG_COMPOUND] synonym: "alpha-D-glucose" EXACT [UniProt] synonym: "alpha-dextrose" RELATED [ChemIDplus] synonym: "WURCS=2.0/1,1,0/[a2122h-1a_1-5]/1/" RELATED [GlyTouCan] xref: Beilstein:1281608 {source="Beilstein"} xref: Beilstein:5730158 {source="Beilstein"} xref: CAS:492-62-6 {source="KEGG COMPOUND"} xref: CAS:492-62-6 {source="NIST Chemistry WebBook"} xref: CAS:492-62-6 {source="ChemIDplus"} xref: GlyGen:G58161NS xref: GlyTouCan:G58161NS xref: Gmelin:329225 {source="Gmelin"} xref: KEGG:C00267 xref: KNApSAcK:C00001122 xref: NCIt:C77427 xref: PDBeChem:GLC xref: PMID:19443021 {source="Europe PMC"} xref: PMID:25568069 {source="Europe PMC"} xref: PMID:31537530 {source="Europe PMC"} is_a: CHEBI:17234 ! glucose property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H12O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H12O6/c7-1-2-3(8)4(9)5(10)6(11)12-2/h2-11H,1H2/t2-,3-,4+,5-,6+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WQZGKKKJIJFFOK-DVKNGEFBSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "180.15588" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "180.06339" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC[C@H]1O[C@H](O)[C@H](O)[C@@H](O)[C@@H]1O" xsd:string [Term] id: CHEBI:17929 name: N(omega),N(omega)-dimethyl-L-arginine namespace: chebi_ontology alt_id: CHEBI:12680 alt_id: CHEBI:21908 alt_id: CHEBI:25683 alt_id: CHEBI:41833 alt_id: CHEBI:7432 def: "A L-arginine derivative having two methyl groups both attached to the primary amino moiety of the guanidino group." [] subset: 3_STAR synonym: "(2S)-2-amino-5-(N',N'-dimethylcarbamimidamido)pentanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "(2S)-2-amino-5-{[(dimethylamino)(imino)methyl]amino}pentanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "ADMA" RELATED [HMDB] synonym: "asymmetric dimethylarginine" RELATED [ChEBI] synonym: "guanidino-N,N-dimethylarginine" RELATED [ChemIDplus] synonym: "N(5)-((dimethylamino)iminomethyl)-L-ornithine" RELATED [ChemIDplus] synonym: "N(5)-(N,N-dimethylcarbamimidoyl)-L-ornithine" EXACT IUPAC_NAME [IUPAC] synonym: "N(5)-[(dimethylamino)(imino)methyl]-L-ornithine" EXACT IUPAC_NAME [IUPAC] synonym: "N(G),N(G)-dimethylarginine" RELATED [ChemIDplus] synonym: "N(G)-dimethylarginine" RELATED [ChemIDplus] synonym: "N(G1),N(G1)-dimethylarginine" RELATED [ChemIDplus] synonym: "N,N-dimethylarginine" RELATED [ChemIDplus] synonym: "NG,NG-DIMETHYL-L-ARGININE" RELATED [PDBeChem] synonym: "NG,NG-Dimethyl-L-arginine" RELATED [KEGG_COMPOUND] xref: Beilstein:2261521 {source="Beilstein"} xref: CAS:30315-93-6 {source="KEGG COMPOUND"} xref: CAS:30315-93-6 {source="ChemIDplus"} xref: DrugBank:DB01686 xref: KEGG:C03626 xref: MeSH:C018524 xref: NCIt:C26311 xref: PDBeChem:DA2 is_a: CHEBI:33709 ! amino acid is_a: CHEBI:86468 ! dimethylarginine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H18N4O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H18N4O2/c1-12(2)8(10)11-5-3-4-6(9)7(13)14/h6H,3-5,9H2,1-2H3,(H2,10,11)(H,13,14)/t6-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YDGMGEXADBMOMJ-LURJTMIESA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "202.25428" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "202.14298" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN(C)C(=N)NCCC[C@H](N)C(O)=O" xsd:string [Term] id: CHEBI:17939 name: puromycin namespace: chebi_ontology alt_id: CHEBI:14970 alt_id: CHEBI:26402 alt_id: CHEBI:45182 alt_id: CHEBI:8641 def: "An aminonucleoside antibiotic, derived from the Streptomyces alboniger bacterium, that causes premature chain termination during translation taking place in the ribosome." [] subset: 3_STAR synonym: "(S)-3'-((2-Amino-3-(4-methoxyphenyl)-1-oxopropyl)amino)-3'-deoxy-N,N-dimethyladenosine" RELATED [ChemIDplus] synonym: "3'-(L-alpha-Amino-p-methoxyhydrocinnamamido)-3'-deoxy-N,N-dimethyladenosine" RELATED [ChemIDplus] synonym: "3'-[[(2S)-2-amino-3-(4-methoxyphenyl)-1-oxopropyl]amino]-3'-deoxy-N,N-diemthyladenosine" RELATED [ChEBI] synonym: "3'-deoxy-N,N-dimethyl-3'-(O-methyl-L-tyrosinamido)adenosine" EXACT IUPAC_NAME [IUPAC] synonym: "9-{3-deoxy-3-[(O-methyl-L-tyrosyl)amino]-beta-D-xylofuranosyl}-N,N-dimethyl-9H-purin-6-amine" RELATED [ChEBI] synonym: "Achromycin" RELATED [ChemIDplus] synonym: "puromicina" RELATED INN [ChemIDplus] synonym: "Puromycin" EXACT [KEGG_COMPOUND] synonym: "puromycin" RELATED INN [ChemIDplus] synonym: "puromycine" RELATED INN [ChemIDplus] synonym: "puromycinum" RELATED INN [ChemIDplus] xref: CAS:53-79-2 {source="ChemIDplus"} xref: CAS:53-79-2 {source="KEGG COMPOUND"} xref: DrugBank:DB08437 xref: KEGG:C01610 xref: KEGG:D05653 xref: KNApSAcK:C00001507 xref: LINCS:LSM-2788 xref: MeSH:D011691 xref: NCIt:C787 xref: PMID:13945541 {source="Europe PMC"} xref: PMID:15843471 {source="Europe PMC"} xref: PMID:18322149 {source="Europe PMC"} xref: PMID:323854 {source="Europe PMC"} xref: Reaxys:70234 {source="Reaxys"} xref: Wikipedia:Puromycin is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:33281 ! antimicrobial agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H29N7O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C22H29N7O5/c1-28(2)19-17-20(25-10-24-19)29(11-26-17)22-18(31)16(15(9-30)34-22)27-21(32)14(23)8-12-4-6-13(33-3)7-5-12/h4-7,10-11,14-16,18,22,30-31H,8-9,23H2,1-3H3,(H,27,32)/t14-,15+,16+,18+,22+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RXWNCPJZOCPEPQ-NVWDDTSBSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "471.50984" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "471.22302" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "COc1ccc(C[C@H](N)C(=O)N[C@@H]2[C@@H](CO)O[C@H]([C@@H]2O)n2cnc3c(ncnc23)N(C)C)cc1" xsd:string [Term] id: CHEBI:17968 name: butyrate namespace: chebi_ontology alt_id: CHEBI:13924 alt_id: CHEBI:22946 def: "A short-chain fatty acid anion that is the conjugate base of butyric acid, obtained by deprotonation of the carboxy group." [] subset: 3_STAR synonym: "1-butanoate" RELATED [ChEBI] synonym: "1-butyrate" RELATED [ChEBI] synonym: "1-propanecarboxylate" RELATED [ChEBI] synonym: "butanate" RELATED [ChEBI] synonym: "butanoate" EXACT IUPAC_NAME [IUPAC] synonym: "butanoate" RELATED [ChEBI] synonym: "butanoate" RELATED [UniProt] synonym: "butanoic acid, ion(1-)" RELATED [ChemIDplus] synonym: "butyrate" EXACT [IUPAC] synonym: "CH3-[CH2]2-COO(-)" RELATED [IUPAC] synonym: "n-butanoate" RELATED [ChEBI] synonym: "n-butyrate" RELATED [ChemIDplus] synonym: "propanecarboxylate" RELATED [ChEBI] synonym: "propylformate" RELATED [ChEBI] xref: Beilstein:3601060 {source="Beilstein"} xref: CAS:461-55-2 {source="ChemIDplus"} xref: ChEBI:C00246 xref: ChEBI:c0035 xref: ChemIDplus:461-55-2 xref: CiteXplore:17190852 xref: CiteXplore:7496326 xref: Gmelin:324289 {source="Gmelin"} xref: KEGG:C00246 xref: MetaCyc:BUTYRIC_ACID xref: PMID:17190852 {source="Europe PMC"} xref: PMID:7496326 {source="Europe PMC"} xref: Reaxys:3601060 {source="Reaxys"} xref: UM-BBD_compID:c0035 {source="UM-BBD"} is_a: CHEBI:18059 ! lipid is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H7O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H8O2/c1-2-3-4(5)6/h2-3H2,1H3,(H,5,6)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FERIUCNNQQJTOY-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "87.09718" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "87.04515" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCC([O-])=O" xsd:string [Term] id: CHEBI:17992 name: sucrose namespace: chebi_ontology alt_id: CHEBI:15128 alt_id: CHEBI:26812 alt_id: CHEBI:45795 alt_id: CHEBI:9314 def: "A glycosyl glycoside formed by glucose and fructose units joined by an acetal oxygen bridge from hemiacetal of glucose to the hemiketal of the fructose." [] subset: 3_STAR synonym: "1-alpha-D-Glucopyranosyl-2-beta-D-fructofuranoside" RELATED [KEGG_COMPOUND] synonym: "beta-D-fructofuranosyl alpha-D-glucopyranoside" EXACT IUPAC_NAME [IUPAC] synonym: "beta-D-Fruf-(2<->1)-alpha-D-Glcp" RELATED [JCBN] synonym: "Cane sugar" RELATED [KEGG_COMPOUND] synonym: "sacarosa" RELATED [ChEBI] synonym: "Saccharose" RELATED [KEGG_COMPOUND] synonym: "Sacharose" RELATED [ChEBI] synonym: "SUCROSE" EXACT [PDBeChem] synonym: "Sucrose" EXACT [KEGG_COMPOUND] synonym: "sucrose" EXACT [UniProt] synonym: "table sugar" RELATED [ChemIDplus] synonym: "White sugar" RELATED [HMDB] xref: Beilstein:90825 {source="Beilstein"} xref: CAS:57-50-1 {source="KEGG COMPOUND"} xref: CAS:57-50-1 {source="ChemIDplus"} xref: CAS:57-50-1 {source="NIST Chemistry WebBook"} xref: Drug_Central:4610 {source="DrugCentral"} xref: DrugBank:DB02772 xref: Gmelin:97695 {source="Gmelin"} xref: HMDB:HMDB0000258 xref: KEGG:C00089 xref: KEGG:D00025 xref: KEGG:D06533 xref: KEGG:G00370 xref: KNApSAcK:C00001151 xref: MetaCyc:SUCROSE xref: PDBeChem:SUC xref: PMID:11021636 {source="Europe PMC"} xref: PMID:11093712 {source="Europe PMC"} xref: PMID:11111003 {source="Europe PMC"} xref: PMID:12065720 {source="Europe PMC"} xref: PMID:12706980 {source="Europe PMC"} xref: PMID:13508893 {source="Europe PMC"} xref: PMID:15291457 {source="Europe PMC"} xref: PMID:15660210 {source="Europe PMC"} xref: PMID:15792978 {source="Europe PMC"} xref: PMID:15845855 {source="Europe PMC"} xref: PMID:16228482 {source="Europe PMC"} xref: PMID:16304615 {source="Europe PMC"} xref: PMID:16313996 {source="Europe PMC"} xref: PMID:16525719 {source="Europe PMC"} xref: PMID:16660545 {source="Europe PMC"} xref: PMID:16663947 {source="Europe PMC"} xref: PMID:16665852 {source="Europe PMC"} xref: PMID:17233733 {source="Europe PMC"} xref: PMID:17439666 {source="Europe PMC"} xref: PMID:17597061 {source="Europe PMC"} xref: PMID:18625236 {source="Europe PMC"} xref: PMID:19199566 {source="Europe PMC"} xref: PMID:19726178 {source="Europe PMC"} xref: PMID:21703290 {source="Europe PMC"} xref: PMID:21972845 {source="Europe PMC"} xref: PMID:22085755 {source="Europe PMC"} xref: PMID:22311778 {source="Europe PMC"} xref: PMID:22404833 {source="Europe PMC"} xref: PMID:22751876 {source="Europe PMC"} xref: Reaxys:1435311 {source="Reaxys"} xref: Reaxys:90825 {source="Reaxys"} xref: Wikipedia:Sucrose is_a: CHEBI:16646 ! carbohydrate property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12H22O11" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C12H22O11/c13-1-4-6(16)8(18)9(19)11(21-4)23-12(3-15)10(20)7(17)5(2-14)22-12/h4-11,13-20H,1-3H2/t4-,5-,6-,7-,8+,9-,10+,11-,12+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CZMRCDWAGMRECN-UGDNZRGBSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "342.29650" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "342.11621" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC[C@H]1O[C@H](O[C@]2(CO)O[C@H](CO)[C@@H](O)[C@@H]2O)[C@H](O)[C@@H](O)[C@@H]1O" xsd:string [Term] id: CHEBI:17996 name: chloride namespace: chebi_ontology alt_id: CHEBI:13291 alt_id: CHEBI:13970 alt_id: CHEBI:3616 alt_id: CHEBI:3731 alt_id: CHEBI:48804 def: "A halide anion formed when chlorine picks up an electron to form an an anion." [] subset: 3_STAR synonym: "Chloride" EXACT [KEGG_COMPOUND] synonym: "chloride" EXACT [UniProt] synonym: "chloride" EXACT IUPAC_NAME [IUPAC] synonym: "CHLORIDE ION" RELATED [PDBeChem] synonym: "Chloride ion" RELATED [KEGG_COMPOUND] synonym: "Chloride(1-)" RELATED [ChemIDplus] synonym: "chloride(1-)" EXACT IUPAC_NAME [IUPAC] synonym: "Chlorine anion" RELATED [NIST_Chemistry_WebBook] synonym: "Cl(-)" RELATED [IUPAC] synonym: "Cl-" RELATED [KEGG_COMPOUND] xref: Beilstein:3587171 {source="Beilstein"} xref: CAS:16887-00-6 {source="ChemIDplus"} xref: CAS:16887-00-6 {source="NIST Chemistry WebBook"} xref: CAS:16887-00-6 {source="KEGG COMPOUND"} xref: Gmelin:14910 {source="Gmelin"} xref: KEGG:C00115 xref: KEGG:C00698 xref: PDBeChem:CL xref: UM-BBD_compID:c0884 {source="UM-BBD"} is_a: CHEBI:24867 ! monoatomic ion property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "Cl" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/ClH/h1H/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VEXZGXHMUGYJMC-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "35.45270" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "34.96940" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Cl-]" xsd:string [Term] id: CHEBI:18005 name: keto-phenylpyruvate namespace: chebi_ontology alt_id: CHEBI:12821 alt_id: CHEBI:14784 alt_id: CHEBI:26007 def: "A 2-oxo monocarboxylic acid anion resulting from deprotonation of the carboxy group of keto-phenylpyruvic acid." [] subset: 3_STAR synonym: "2-oxo-3-phenylpropanoate" EXACT IUPAC_NAME [IUPAC] synonym: "3-(4-hydroxyphenyl)pyruvate" RELATED [ChEBI] synonym: "3-phenyl-2-oxopropanoate" RELATED [ChEBI] synonym: "3-phenylpyruvate" RELATED [UniProt] xref: Beilstein:3944391 {source="Beilstein"} xref: Gmelin:847922 {source="Gmelin"} xref: KEGG:C00166 xref: MetaCyc:PHENYL-PYRUVATE is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H7O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H8O3/c10-8(9(11)12)6-7-4-2-1-3-5-7/h1-5H,6H2,(H,11,12)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BTNMPGBKDVTSJY-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "163.15008" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "163.04007" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-]C(=O)C(=O)Cc1ccccc1" xsd:string [Term] id: CHEBI:18012 name: fumaric acid namespace: chebi_ontology alt_id: CHEBI:24124 alt_id: CHEBI:42743 alt_id: CHEBI:5190 def: "A butenedioic acid in which the C=C double bond has E geometry. It is an intermediate metabolite in the citric acid cycle." [] subset: 3_STAR synonym: "(2E)-2-butenedioic acid" RELATED [NIST_Chemistry_WebBook] synonym: "(2E)-but-2-enedioic acid" EXACT IUPAC_NAME [IUPAC] synonym: "(E)-2-butenedioic acid" RELATED [NIST_Chemistry_WebBook] synonym: "E297" RELATED [ChEBI] synonym: "FUMARIC ACID" EXACT [PDBeChem] synonym: "Fumaric acid" EXACT [KEGG_COMPOUND] synonym: "Fumarsaeure" RELATED [ChEBI] synonym: "trans-1,2-ethylenedicarboxylic acid" RELATED [ChemIDplus] synonym: "trans-but-2-enedioic acid" RELATED [IUPAC] synonym: "trans-Butenedioic acid" RELATED [KEGG_COMPOUND] xref: Beilstein:605763 {source="Beilstein"} xref: CAS:110-17-8 {source="ChemIDplus"} xref: CAS:110-17-8 {source="NIST Chemistry WebBook"} xref: CAS:110-17-8 {source="KEGG COMPOUND"} xref: Drug_Central:3229 {source="DrugCentral"} xref: DrugBank:DB01677 xref: FooDB:FDB003291 xref: Gmelin:49855 {source="Gmelin"} xref: HMDB:HMDB0000134 xref: KEGG:C00122 xref: KEGG:D02308 xref: KNApSAcK:C00001183 xref: MetaCyc:FUM xref: PDBeChem:FUM xref: PMID:17439666 {source="Europe PMC"} xref: PMID:21414846 {source="Europe PMC"} xref: PMID:22113915 {source="Europe PMC"} xref: PMID:22217732 {source="Europe PMC"} xref: PMID:22516248 {source="Europe PMC"} xref: PMID:23472183 {source="Europe PMC"} xref: PPDB:1347 xref: Reaxys:605763 {source="Reaxys"} xref: Wikipedia:Fumaric_Acid is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H4O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H4O4/c5-3(6)1-2-4(7)8/h1-2H,(H,5,6)(H,7,8)/b2-1+" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VZCYOOQTPOCHFL-OWOJBTEDSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "116.07220" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "116.01096" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)\\C=C\\C(O)=O" xsd:string [Term] id: CHEBI:18035 name: diglyceride namespace: chebi_ontology alt_id: CHEBI:14135 alt_id: CHEBI:23653 alt_id: CHEBI:4481 def: "A glyceride that is glycerol in which any two of the hydroxy groups have been acylated. In the structure shown, two of the R groups (positions not specified) are acyl groups while the remaining R group can be either H or an alkyl group." [] subset: 3_STAR synonym: "a diacylglycerol" RELATED [UniProt] synonym: "di-O-acylglycerols" RELATED [ChEBI] synonym: "Diacylglycerol" RELATED [KEGG_COMPOUND] synonym: "diacylglycerols" RELATED [LIPID_MAPS] synonym: "Diglyceride" EXACT [KEGG_COMPOUND] synonym: "diglycerides" EXACT IUPAC_NAME [IUPAC] synonym: "diglycerides" RELATED [ChEBI] xref: KEGG:C00165 xref: LIPID_MAPS_class:LMGL0201 {source="LIPID MAPS"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H6O5R2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "89.07000" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "89.02387" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]OCC(CO[*])O[*]" xsd:string [Term] id: CHEBI:18050 name: L-glutamine namespace: chebi_ontology alt_id: CHEBI:13110 alt_id: CHEBI:21308 alt_id: CHEBI:42812 alt_id: CHEBI:42814 alt_id: CHEBI:42899 alt_id: CHEBI:42943 alt_id: CHEBI:6227 def: "An optically active form of glutamine having L-configuration." [] subset: 3_STAR synonym: "(2S)-2,5-diamino-5-oxopentanoic acid" RELATED [IUPAC] synonym: "(2S)-2-amino-4-carbamoylbutanoic acid" RELATED [JCBN] synonym: "(S)-2,5-diamino-5-oxopentanoic acid" RELATED [ChEBI] synonym: "Glutamic acid 5-amide" RELATED [HMDB] synonym: "Glutamic acid amide" RELATED [HMDB] synonym: "GLUTAMINE" RELATED [PDBeChem] synonym: "L-(+)-glutamine" RELATED [ChemIDplus] synonym: "L-2-Aminoglutaramic acid" RELATED [KEGG_COMPOUND] synonym: "L-2-aminoglutaramic acid" RELATED [DrugBank] synonym: "L-2-aminoglutaramic acid" RELATED [ChEBI] synonym: "L-glutamic acid gamma-amide" RELATED [NIST_Chemistry_WebBook] synonym: "L-Glutamin" RELATED [ChEBI] synonym: "L-Glutamine" EXACT [KEGG_COMPOUND] synonym: "L-glutamine" EXACT IUPAC_NAME [IUPAC] synonym: "L-Glutaminsaeure-5-amid" RELATED [ChEBI] synonym: "Levoglutamide" RELATED [KEGG_DRUG] synonym: "Q" RELATED [ChEBI] xref: Beilstein:1723797 {source="ChemIDplus"} xref: CAS:56-85-9 {source="KEGG COMPOUND"} xref: CAS:56-85-9 {source="NIST Chemistry WebBook"} xref: CAS:56-85-9 {source="ChemIDplus"} xref: Drug_Central:1311 {source="DrugCentral"} xref: DrugBank:DB00130 xref: ECMDB:ECMDB00641 xref: Gmelin:3509 {source="Gmelin"} xref: HMDB:HMDB0000641 xref: KEGG:C00064 xref: KEGG:D00015 xref: KNApSAcK:C00001359 xref: LINCS:LSM-4741 xref: MetaCyc:GLN xref: PDBeChem:GLN xref: PMID:11139387 {source="Europe PMC"} xref: PMID:15204730 {source="Europe PMC"} xref: PMID:22055478 {source="Europe PMC"} xref: PMID:22206385 {source="Europe PMC"} xref: PMID:22451274 {source="Europe PMC"} xref: PMID:22453904 {source="Europe PMC"} xref: PMID:22575040 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: PMID:29438107 {source="Europe PMC"} xref: Reaxys:1723797 {source="Reaxys"} xref: Wikipedia:Glutamine xref: YMDB:YMDB00002 is_a: CHEBI:28300 ! glutamine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H10N2O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H10N2O3/c6-3(5(9)10)1-2-4(7)8/h3H,1-2,6H2,(H2,7,8)(H,9,10)/t3-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ZDXPYRJPNDTMRX-VKHMYHEASA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "146.14458" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "146.06914" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "N[C@@H](CCC(N)=O)C(O)=O" xsd:string [Term] id: CHEBI:18053 name: 1-aminocyclopropanecarboxylic acid namespace: chebi_ontology alt_id: CHEBI:19027 alt_id: CHEBI:19028 alt_id: CHEBI:39590 alt_id: CHEBI:609 def: "A non-proteinogenic alpha-amino acid consisting of cyclopropane having amino and carboxy substituents both at the 1-position." [] subset: 3_STAR synonym: "1-Aminocyclopropane-1-carboxylic acid" RELATED [KEGG_COMPOUND] synonym: "1-aminocyclopropane-1-carboxylic acid" EXACT IUPAC_NAME [IUPAC] synonym: "1-AMINOCYCLOPROPANECARBOXYLIC ACID" EXACT [PDBeChem] synonym: "ACC" RELATED [ChemIDplus] xref: Beilstein:2076413 {source="Beilstein"} xref: CAS:22059-21-8 {source="KEGG COMPOUND"} xref: CAS:22059-21-8 {source="ChemIDplus"} xref: DrugBank:DB02085 xref: Gmelin:362607 {source="Gmelin"} xref: HMDB:HMDB0036458 xref: KEGG:C01234 xref: KNApSAcK:C00007566 xref: MeSH:C023863 xref: MetaCyc:CPD-68 xref: NCIt:C70618 xref: PDBeChem:1AC xref: Pesticides:acc {source="Alan Wood's Pesticides"} xref: PMID:24120532 {source="Europe PMC"} xref: PMID:24495994 {source="Europe PMC"} xref: Reaxys:2076413 {source="Reaxys"} xref: Wikipedia:1-Aminocyclopropane-1-carboxylic_acid is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H7NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H7NO2/c5-4(1-2-4)3(6)7/h1-2,5H2,(H,6,7)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PAJPWUMXBYXFCZ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "101.10392" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "101.04768" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NC1(CC1)C(O)=O" xsd:string [Term] id: CHEBI:18058 name: oxamic acid namespace: chebi_ontology alt_id: CHEBI:14708 alt_id: CHEBI:25740 alt_id: CHEBI:44589 alt_id: CHEBI:7818 def: "A dicarboxylic acid monoamide resulting from the formal condensation of one of the carboxy groups of oxalic acid with ammonia." [] subset: 3_STAR synonym: "amino(oxo)acetic acid" RELATED [ChEBI] synonym: "Glycine, 2-oxo-" RELATED [ChemIDplus] synonym: "Oxalic monoamide" RELATED [KEGG_COMPOUND] synonym: "Oxamate" RELATED [KEGG_COMPOUND] synonym: "Oxamic acid" EXACT [KEGG_COMPOUND] synonym: "oxamic acid" EXACT IUPAC_NAME [IUPAC] xref: CAS:471-47-6 {source="ChemIDplus"} xref: CAS:471-47-6 {source="KEGG COMPOUND"} xref: ChEMBL:116932 xref: DrugBank:DB03940 xref: KEGG COMPOUND:471-47-6 xref: KEGG COMPOUND:C01444 xref: KEGG:C01444 xref: LINCS:LSM-6631 xref: MeSH:D010072 xref: PDBeChem:OXM xref: PMID:23560609 {source="Europe PMC"} xref: PMID:24465604 {source="Europe PMC"} xref: Reaxys:1743294 {source="Reaxys"} xref: SNOMEDCT:46942006 is_a: EFO:0004416 ! acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C2H3NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C2H3NO3/c3-1(4)2(5)6/h(H2,3,4)(H,5,6)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SOWBFZRMHSNYGE-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "89.05016" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "89.01129" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NC(=O)C(O)=O" xsd:string [Term] id: CHEBI:18059 name: lipid namespace: chebi_ontology alt_id: CHEBI:14517 alt_id: CHEBI:25054 alt_id: CHEBI:6486 def: "'Lipids' is a loosely defined term for substances of biological origin that are soluble in nonpolar solvents. They consist of saponifiable lipids, such as glycerides (fats and oils) and phospholipids, as well as nonsaponifiable lipids, principally steroids." [] subset: 3_STAR synonym: "Lipid" EXACT [KEGG_COMPOUND] synonym: "lipids" EXACT IUPAC_NAME [IUPAC] xref: KEGG:C01356 xref: MeSH:D008055 xref: NCIt:C616 xref: SNOMEDCT:70106000 is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:180636 name: PS(O-20:0/22:4(7Z,10Z,13Z,16Z)) namespace: chebi_ontology subset: 2_STAR synonym: "(2S)-2-amino-3-[[(2R)-2-[(7Z,10Z,13Z,16Z)-docosa-7,10,13,16-tetraenoyl]oxy-3-icosoxypropoxy]-hydroxyphosphoryl]oxypropanoic acid" EXACT IUPAC_NAME [SUBMITTER] xref: LIPID_MAPS_instance:LMGP03020068 {source="LIPID MAPS"} is_a: CHEBI:16247 ! phospholipid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C48H88NO9P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C48H88NO9P/c1-3-5-7-9-11-13-15-17-19-21-23-24-26-28-30-32-34-36-38-40-47(50)58-45(43-56-59(53,54)57-44-46(49)48(51)52)42-55-41-39-37-35-33-31-29-27-25-22-20-18-16-14-12-10-8-6-4-2/h11,13,17,19,23-24,28,30,45-46H,3-10,12,14-16,18,20-22,25-27,29,31-44,49H2,1-2H3,(H,51,52)(H,53,54)/b13-11-,19-17-,24-23-,30-28-/t45-,46+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QDCLIEMDHNMIGJ-NUZBEXIASA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "854.204" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "853.61967" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "P(OC[C@H](OC(=O)CCCCC/C=C\\C/C=C\\C/C=C\\C/C=C\\CCCCC)COCCCCCCCCCCCCCCCCCCCC)(OC[C@H](N)C(O)=O)(O)=O" xsd:string [Term] id: CHEBI:18095 name: trans-4-hydroxy-L-proline namespace: chebi_ontology alt_id: CHEBI:10714 alt_id: CHEBI:12864 alt_id: CHEBI:27060 alt_id: CHEBI:43172 alt_id: CHEBI:43210 alt_id: CHEBI:43227 alt_id: CHEBI:43318 alt_id: CHEBI:49360 def: "An optically active form of 4-hydroxyproline having L-trans-configuration." [] subset: 3_STAR synonym: "(2S,4R)-4-hydroxy-2-pyrrolidinecarboxylic acid" RELATED [ChEBI] synonym: "(2S,4R)-trans-4-hydroxyproline" RELATED [ChEBI] synonym: "(4R)-4-hydroxy-L-proline" EXACT IUPAC_NAME [IUPAC] synonym: "delta-hydroxyproline" RELATED [NIST_Chemistry_WebBook] synonym: "Hydroxy-L-proline" RELATED [ChemIDplus] synonym: "Hydroxyproline" RELATED [ChemIDplus] synonym: "Hyp" RELATED [ChEBI] synonym: "Hypro" RELATED [ChemIDplus] synonym: "L-4-Hydroxyproline" RELATED [ChemIDplus] synonym: "L-threo-4-hydroxyproline" RELATED [ChEBI] synonym: "trans-4-Hydroxy-L-proline" EXACT [KEGG_COMPOUND] synonym: "trans-4-hydroxy-L-proline" EXACT [ChEBI] synonym: "trans-Hydroxyproline" RELATED [NIST_Chemistry_WebBook] synonym: "trans-L-Hydroxyproline" RELATED [NIST_Chemistry_WebBook] xref: CAS:51-35-4 {source="KEGG COMPOUND"} xref: CAS:51-35-4 {source="ChemIDplus"} xref: CAS:51-35-4 {source="NIST Chemistry WebBook"} xref: Drug_Central:4272 {source="DrugCentral"} xref: HMDB:HMDB0000725 xref: KEGG:C01157 xref: KNApSAcK:C00001370 xref: MetaCyc:4-HYDROXY-L-PROLINE xref: PDBeChem:HYP xref: PMID:1117843 {source="Europe PMC"} xref: PMID:1166829 {source="Europe PMC"} xref: PMID:12148113 {source="Europe PMC"} xref: PMID:14104082 {source="Europe PMC"} xref: PMID:14995121 {source="Europe PMC"} xref: PMID:15558350 {source="Europe PMC"} xref: PMID:16096557 {source="Europe PMC"} xref: PMID:16656634 {source="Europe PMC"} xref: PMID:16662024 {source="Europe PMC"} xref: PMID:16665943 {source="Europe PMC"} xref: PMID:17021603 {source="Europe PMC"} xref: PMID:19286848 {source="Europe PMC"} xref: PMID:590925 {source="Europe PMC"} xref: PMID:616023 {source="Europe PMC"} xref: PMID:6616407 {source="Europe PMC"} xref: PMID:6625779 {source="Europe PMC"} xref: PMID:6783274 {source="Europe PMC"} xref: PMID:7248905 {source="Europe PMC"} xref: PMID:7283558 {source="Europe PMC"} xref: PMID:7446210 {source="Europe PMC"} xref: PMID:899882 {source="Europe PMC"} xref: PMID:946341 {source="Europe PMC"} xref: Reaxys:81441 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H9NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H9NO3/c7-3-1-4(5(8)9)6-2-3/h3-4,6-7H,1-2H2,(H,8,9)/t3-,4+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PMMYEEVYMWASQN-DMTCNVIQSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "131.131" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "131.05824" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C@H]1(C[C@@H](O)CN1)C(O)=O" xsd:string [Term] id: CHEBI:18102 name: O-octanoyl-L-carnitine namespace: chebi_ontology alt_id: CHEBI:13147 alt_id: CHEBI:21366 alt_id: CHEBI:44613 alt_id: CHEBI:6279 def: "The L-enantiomer of an O-octanoylcarnitine." [] subset: 3_STAR synonym: "(3R)-3-octanoyloxy-4-(trimethylammonio)butanoate" EXACT IUPAC_NAME [IUPAC] synonym: "L-octanoyl-L-carnitine" RELATED [ChEBI] synonym: "L-Octanoylcarnitine" RELATED [KEGG_COMPOUND] synonym: "O-octanoyl-(R)-carnitine" RELATED [UniProt] synonym: "O-octanoyl-R-carnitine" RELATED [LIPID_MAPS] xref: CAS:25243-95-2 {source="HMDB"} xref: HMDB:HMDB0000791 xref: KEGG:C02838 xref: LIPID_MAPS_instance:LMFA07070002 {source="LIPID MAPS"} xref: MetaCyc:L-OCTANOYLCARNITINE xref: PDBeChem:OCB xref: PMID:22770225 {source="Europe PMC"} xref: PMID:23078175 {source="Europe PMC"} xref: PMID:6888266 {source="Europe PMC"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C15H29NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C15H29NO4/c1-5-6-7-8-9-10-15(19)20-13(11-14(17)18)12-16(2,3)4/h13H,5-12H2,1-4H3/t13-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CXTATJFJDMJMIY-CYBMUJFWSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "287.39510" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "287.20966" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCC(=O)O[C@H](CC([O-])=O)C[N+](C)(C)C" xsd:string [Term] id: CHEBI:18123 name: N-methylnicotinate namespace: chebi_ontology alt_id: CHEBI:12522 alt_id: CHEBI:19067 alt_id: CHEBI:7320 def: "An iminium betaine that is the conjugate base of N-methylnicotinic acid, arising from deprotonation of the carboxy group." [] subset: 3_STAR synonym: "1-Methyl-3-pyridiniumcarboxylate" RELATED [HMDB] synonym: "1-methylnicotinate" RELATED [ChEBI] synonym: "1-Methylpyridinio-3-carboxylate" RELATED [KEGG_COMPOUND] synonym: "1-methylpyridinium-3-carboxylate" EXACT IUPAC_NAME [IUPAC] synonym: "3-Carboxy-1-methylpyridinium hydroxide inner salt" RELATED [HMDB] synonym: "Betain nicotinate" RELATED [HMDB] synonym: "Betaine nicotinate" RELATED [KEGG_COMPOUND] synonym: "Caffearin" RELATED [KEGG_COMPOUND] synonym: "Caffearine" RELATED [HMDB] synonym: "Coffearin" RELATED [HMDB] synonym: "Gynesine" RELATED [KEGG_COMPOUND] synonym: "N'-Methylnicotinate" RELATED [HMDB] synonym: "N-methyl-nicotinate" RELATED [MetaCyc] synonym: "N-Methylnicotinate" EXACT [KEGG_COMPOUND] synonym: "N-methylnicotinate" EXACT [UniProt] synonym: "Nicotinic acid N-methylbetaine" RELATED [HMDB] synonym: "Trigenelline" RELATED [KEGG_COMPOUND] synonym: "Trigonellin" RELATED [HMDB] synonym: "Trigonelline" RELATED [KEGG_COMPOUND] xref: Beilstein:3905114 {source="ChemIDplus"} xref: CAS:535-83-1 {source="ChemIDplus"} xref: CAS:535-83-1 {source="KEGG COMPOUND"} xref: HMDB:HMDB0000875 xref: KEGG:C01004 xref: KNApSAcK:C00001555 xref: MetaCyc:METHYLNICOTINATE xref: PMID:13128691 {source="Europe PMC"} xref: PMID:17190852 {source="Europe PMC"} xref: PMID:185134 {source="Europe PMC"} xref: PMID:22242555 {source="Europe PMC"} xref: PMID:22312719 {source="Europe PMC"} xref: PMID:22393699 {source="Europe PMC"} xref: PMID:22559314 {source="Europe PMC"} xref: PMID:24047691 {source="Europe PMC"} xref: Reaxys:3905114 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H7NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H7NO2/c1-8-4-2-3-6(5-8)7(9)10/h2-5H,1H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WWNNZCOKKKDOPX-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "137.13602" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "137.04768" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[n+]1cccc(c1)C([O-])=O" xsd:string [Term] id: CHEBI:18145 name: (R,R,R)-alpha-tocopherol namespace: chebi_ontology alt_id: CHEBI:10336 alt_id: CHEBI:12343 alt_id: CHEBI:46509 def: "An alpha-tocopherol that has R,R,R configuration. The naturally occurring stereoisomer of alpha-tocopherol, it is found particularly in sunflower and olive oils." [] subset: 3_STAR synonym: "(+)-alpha-tocopherol" RELATED [ChemIDplus] synonym: "(+)-alpha-tocopherol" RELATED [UniProt] synonym: "(2R)-2,5,7,8-tetramethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-3,4-dihydro-2H-1-benzopyran-6-ol" RELATED [IUPAC] synonym: "(2R)-2,5,7,8-tetramethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-3,4-dihydro-2H-chromen-6-ol" EXACT IUPAC_NAME [IUPAC] synonym: "(2R)-2,5,7,8-TETRAMETHYL-2-[(4R,8R)-4,8,12-TRIMETHYLTRIDECYL]CHROMAN-6-OL" RELATED [PDBeChem] synonym: "(2R,4'R,8'R)-alpha-tocopherol" RELATED [ChemIDplus] synonym: "(all-R)-alpha-tocopherol" RELATED [ChemIDplus] synonym: "(R,R,R)-alpha-tocopherol" EXACT [ChemIDplus] synonym: "5,7,8-trimethyltocol" RELATED [ChemIDplus] synonym: "alpha-Tocopherol" RELATED [KEGG_COMPOUND] synonym: "d-alpha-tocopherol" RELATED [ChemIDplus] synonym: "RRR-alpha-tocopherol" RELATED [ChEBI] synonym: "Vitamin E" RELATED [KEGG_COMPOUND] xref: Beilstein:5300493 {source="Beilstein"} xref: Beilstein:94012 {source="Beilstein"} xref: CAS:59-02-9 {source="ChemIDplus"} xref: CAS:59-02-9 {source="NIST Chemistry WebBook"} xref: CAS:59-02-9 {source="KEGG COMPOUND"} xref: Chemspider:14265 xref: Drug_Central:4280 {source="DrugCentral"} xref: DrugBank:DB00163 xref: FooDB:FDB000565 xref: HMDB:HMDB0001893 xref: KEGG:C02477 xref: KNApSAcK:C00007366 xref: LIPID_MAPS_instance:LMPR02020001 {source="LIPID MAPS"} xref: MeSH:D014810 xref: MetaCyc:ALPHA-TOCOPHEROL xref: NCIt:C2832 xref: PDBeChem:VIV xref: PMID:11427352 {source="Europe PMC"} xref: PMID:12899840 {source="Europe PMC"} xref: PMID:14657365 {source="Europe PMC"} xref: PMID:16512933 {source="Europe PMC"} xref: PMID:17031012 {source="Europe PMC"} xref: PMID:17310859 {source="Europe PMC"} xref: PMID:19389964 {source="Europe PMC"} xref: PMID:19663978 {source="Europe PMC"} xref: PMID:20209471 {source="Europe PMC"} xref: PMID:21591326 {source="Europe PMC"} xref: PMID:23599266 {source="Europe PMC"} xref: PMID:28694484 {source="Europe PMC"} xref: PMID:31013594 {source="Europe PMC"} xref: PMID:33197771 {source="Europe PMC"} xref: Reaxys:94012 {source="Reaxys"} xref: SNOMEDCT:116776001 xref: SNOMEDCT:37237003 xref: Wikipedia:Alpha-Tocopherol is_a: CHEBI:22470 ! alpha-tocopherol relationship: has_role CHEBI:22586 ! antioxidant relationship: has_role CHEBI:33229 ! vitamin (role) relationship: has_role CHEBI:37700 ! EC 2.7.11.13 (protein kinase C) inhibitor relationship: has_role CHEBI:50249 ! anticoagulant relationship: has_role CHEBI:50733 ! nutraceutical relationship: has_role CHEBI:50855 ! antiatherogenic agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C29H50O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C29H50O2/c1-20(2)12-9-13-21(3)14-10-15-22(4)16-11-18-29(8)19-17-26-25(7)27(30)23(5)24(6)28(26)31-29/h20-22,30H,9-19H2,1-8H3/t21-,22-,29-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GVJHHUAWPYXKBD-IEOSBIPESA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "430.70610" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "430.38108" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)CCC[C@@H](C)CCC[C@@H](C)CCC[C@]1(C)CCc2c(C)c(O)c(C)c(C)c2O1" xsd:string [Term] id: CHEBI:18153 name: ethene namespace: chebi_ontology alt_id: CHEBI:14230 alt_id: CHEBI:24000 alt_id: CHEBI:4899 subset: 3_STAR synonym: "Aethen" RELATED [ChEBI] synonym: "Aethylen" RELATED [ChEBI] synonym: "CH2=CH2" RELATED [IUPAC] synonym: "ethene" EXACT [UniProt] synonym: "ethene" EXACT IUPAC_NAME [IUPAC] synonym: "Ethylene" RELATED [KEGG_COMPOUND] synonym: "H2C=CH2" RELATED [ChEBI] synonym: "R-1150" RELATED [ChEBI] xref: Beilstein:1730731 {source="Beilstein"} xref: BPDB:2009 xref: CAS:74-85-1 {source="KEGG COMPOUND"} xref: CAS:74-85-1 {source="NIST Chemistry WebBook"} xref: CAS:74-85-1 {source="ChemIDplus"} xref: Gmelin:214 {source="Gmelin"} xref: KEGG:C06547 xref: KNApSAcK:C00000175 xref: MeSH:C036216 xref: NCIt:C76752 xref: SNOMEDCT:389103009 xref: SNOMEDCT:53246002 xref: UM-BBD_compID:c0359 {source="UM-BBD"} is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:37848 ! plant hormone property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C2H4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C2H4/c1-2/h1-2H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VGGSQFUCUMXWEO-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "28.05316" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "28.03130" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C=C" xsd:string [Term] id: CHEBI:18154 name: polysaccharide namespace: chebi_ontology alt_id: CHEBI:14864 alt_id: CHEBI:26205 alt_id: CHEBI:8322 def: "A biomacromolecule consisting of large numbers of monosaccharide residues linked glycosidically. This term is commonly used only for those containing more than ten monosaccharide residues." [] subset: 3_STAR synonym: "Glycan" RELATED [KEGG_COMPOUND] synonym: "Glycane" RELATED [ChEBI] synonym: "glycans" RELATED [IUPAC] synonym: "Glykan" RELATED [ChEBI] synonym: "Glykane" RELATED [ChEBI] synonym: "polisacarido" RELATED [ChEBI] synonym: "polisacaridos" RELATED [IUPAC] synonym: "Polysaccharide" EXACT [KEGG_COMPOUND] synonym: "polysaccharides" EXACT IUPAC_NAME [IUPAC] xref: KEGG COMPOUND:C00420 xref: KEGG:C00420 xref: MeSH:D011134 xref: NCIt:C28179 xref: SNOMEDCT:71544008 is_a: CHEBI:16646 ! carbohydrate [Term] id: CHEBI:18185 name: gamma-tocopherol namespace: chebi_ontology alt_id: CHEBI:10579 alt_id: CHEBI:12406 alt_id: CHEBI:24199 def: "A tocopherol in which the chroman-6-ol core is substituted by methyl groups at positions 7 and 8. It is found particularly in maize (corn) oil and soya bean (soybean) oils." [] subset: 3_STAR synonym: "(+)-gamma-tocopherol" RELATED [HMDB] synonym: "(2R)-2,7,8-trimethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-3,4-dihydro-2H-1-benzopyran-6-ol" RELATED [IUPAC] synonym: "(2R)-2,7,8-trimethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-3,4-dihydro-2H-chromen-6-ol" EXACT IUPAC_NAME [IUPAC] synonym: "(2R)-3,4-dihydro-2,7,8-trimethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-2H-1-benzopyran-6-ol" RELATED [ChemIDplus] synonym: "(2R,4'R,8'R)-gamma-tocopherol" RELATED [HMDB] synonym: "(R,R,R)-gamma-tocopherol" RELATED [HMDB] synonym: "7,8-dimethyltocol" RELATED [ChEBI] synonym: "D-gamma-tocopherol" RELATED [ChemIDplus] synonym: "E308" RELATED [ChEBI] synonym: "gamma-Tocopherol" EXACT [KEGG_COMPOUND] synonym: "gamma-tocopherol" EXACT [UniProt] synonym: "RRR-gamma-tocopherol" RELATED [ChEBI] xref: AGR:IND605428769 {source="Europe PMC"} xref: AGR:IND607289207 {source="Europe PMC"} xref: Beilstein:93072 {source="Beilstein"} xref: CAS:54-28-4 {source="ChemIDplus"} xref: CAS:54-28-4 {source="KEGG COMPOUND"} xref: Chemspider:83708 xref: DrugBank:DB15394 xref: FooDB:FDB002431 xref: HMDB:HMDB0001492 xref: KEGG:C02483 xref: KNApSAcK:C00007365 xref: LIPID_MAPS_instance:LMPR02020065 {source="LIPID MAPS"} xref: MeSH:D024504 xref: MetaCyc:GAMA-TOCOPHEROL xref: NCIt:C68317 xref: PMID:10875465 {source="Europe PMC"} xref: PMID:1146729 {source="Europe PMC"} xref: PMID:11811542 {source="Europe PMC"} xref: PMID:14871472 {source="Europe PMC"} xref: PMID:14988604 {source="Europe PMC"} xref: PMID:15189696 {source="Europe PMC"} xref: PMID:15190048 {source="Europe PMC"} xref: PMID:15213374 {source="Europe PMC"} xref: PMID:15256801 {source="Europe PMC"} xref: PMID:15493460 {source="Europe PMC"} xref: PMID:15753151 {source="Europe PMC"} xref: PMID:15932790 {source="Europe PMC"} xref: PMID:16115338 {source="Europe PMC"} xref: PMID:16336861 {source="Europe PMC"} xref: PMID:16384840 {source="Europe PMC"} xref: PMID:16400056 {source="Europe PMC"} xref: PMID:16481153 {source="Europe PMC"} xref: PMID:16875031 {source="Europe PMC"} xref: PMID:17823432 {source="Europe PMC"} xref: PMID:18582912 {source="Europe PMC"} xref: PMID:19838939 {source="Europe PMC"} xref: PMID:22411374 {source="Europe PMC"} xref: PMID:22513202 {source="Europe PMC"} xref: PMID:22607470 {source="Europe PMC"} xref: PMID:22888664 {source="Europe PMC"} xref: PMID:23429409 {source="Europe PMC"} xref: PMID:2388136 {source="Europe PMC"} xref: PMID:23993952 {source="Europe PMC"} xref: PMID:25501796 {source="Europe PMC"} xref: PMID:25916693 {source="Europe PMC"} xref: PMID:28211759 {source="Europe PMC"} xref: PMID:28506847 {source="Europe PMC"} xref: PMID:28629117 {source="Europe PMC"} xref: PMID:30361021 {source="Europe PMC"} xref: PMID:31136626 {source="Europe PMC"} xref: PMID:31583056 {source="Europe PMC"} xref: PMID:31957471 {source="Europe PMC"} xref: PMID:32065446 {source="Europe PMC"} xref: PMID:32197490 {source="Europe PMC"} xref: PMID:32488024 {source="Europe PMC"} xref: PMID:33352218 {source="Europe PMC"} xref: PMID:33549947 {source="Europe PMC"} xref: PMID:6618108 {source="Europe PMC"} xref: PMID:6875389 {source="Europe PMC"} xref: PMID:6959572 {source="Europe PMC"} xref: PMID:8514270 {source="Europe PMC"} xref: PMID:9537614 {source="Europe PMC"} xref: PMID:9808643 {source="Europe PMC"} xref: Reaxys:93072 {source="Reaxys"} xref: Wikipedia:Gamma-Tocopherol is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:33229 ! vitamin (role) property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C28H48O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C28H48O2/c1-20(2)11-8-12-21(3)13-9-14-22(4)15-10-17-28(7)18-16-25-19-26(29)23(5)24(6)27(25)30-28/h19-22,29H,8-18H2,1-7H3/t21-,22-,28-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QUEDXNHFTDJVIY-DQCZWYHMSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "416.67952" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "416.36543" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)CCC[C@@H](C)CCC[C@@H](C)CCC[C@]1(C)CCc2cc(O)c(C)c(C)c2O1" xsd:string [Term] id: CHEBI:18186 name: tyrosine namespace: chebi_ontology alt_id: CHEBI:15277 alt_id: CHEBI:27176 alt_id: CHEBI:9800 def: "An alpha-amino acid that is phenylalanine bearing a hydroxy substituent at position 4 on the phenyl ring." [] subset: 3_STAR synonym: "2-amino-3-(4-hydroxyphenyl)propanoic acid" RELATED [IUPAC] synonym: "2-Amino-3-(p-hydroxyphenyl)propionic acid" RELATED [KEGG_COMPOUND] synonym: "3-(p-Hydroxyphenyl)alanine" RELATED [KEGG_COMPOUND] synonym: "tirosina" RELATED [ChEBI] synonym: "Tyr" RELATED [ChEBI] synonym: "Tyrosin" RELATED [ChEBI] synonym: "Tyrosine" EXACT [KEGG_COMPOUND] synonym: "tyrosine" EXACT IUPAC_NAME [IUPAC] synonym: "Y" RELATED [ChEBI] xref: Beilstein:515881 {source="Beilstein"} xref: CAS:55520-40-6 {source="ChemIDplus"} xref: CAS:556-03-6 {source="KEGG COMPOUND"} xref: Gmelin:27744 {source="Gmelin"} xref: KEGG:C01536 xref: KNApSAcK:C00001397 xref: PMID:17190852 {source="Europe PMC"} xref: Reaxys:515881 {source="Reaxys"} is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H11NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H11NO3/c10-8(9(12)13)5-6-1-3-7(11)4-2-6/h1-4,8,11H,5,10H2,(H,12,13)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OUYCCCASQSFEME-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "181.18858" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "181.07389" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NC(Cc1ccc(O)cc1)C(O)=O" xsd:string [Term] id: CHEBI:18208 name: benzylpenicillin namespace: chebi_ontology alt_id: CHEBI:14743 alt_id: CHEBI:25866 alt_id: CHEBI:45073 alt_id: CHEBI:7962 def: "A penicillin in which the substituent at position 6 of the penam ring is a phenylacetamido group." [] subset: 3_STAR synonym: "(2S,5R,6R)-3,3-dimethyl-7-oxo-6-(phenylacetamido)-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylic acid" RELATED [ChEBI] synonym: "2,2-dimethyl-6beta-(phenylacetamido)penam-3alpha-carboxylic acid" EXACT IUPAC_NAME [IUPAC] synonym: "6-(2-phenylacetamido)penicillanic acid" RELATED [ChemIDplus] synonym: "bencilpenicilina" RELATED INN [ChemIDplus] synonym: "bensylpenicillin" RELATED [ChEBI] synonym: "benzyl benicillin" RELATED [ChEBI] synonym: "Benzylpenicillin" EXACT [KEGG_COMPOUND] synonym: "benzylpenicillin" RELATED INN [KEGG_DRUG] synonym: "benzylpenicilline" RELATED INN [ChemIDplus] synonym: "benzylpenicillinic acid" RELATED [ChemIDplus] synonym: "benzylpenicillinum" RELATED INN [ChemIDplus] synonym: "free penicillin II" RELATED [ChemIDplus] synonym: "PCG" RELATED [ChEBI] synonym: "PENICILLIN G" RELATED [PDBeChem] synonym: "Penicillin G" RELATED [KEGG_COMPOUND] synonym: "PG" RELATED [ChEBI] xref: Beilstein:44740 {source="Beilstein"} xref: CAS:61-33-6 {source="ChemIDplus"} xref: CAS:61-33-6 {source="KEGG COMPOUND"} xref: Drug_Central:2082 {source="DrugCentral"} xref: DrugBank:DB01053 xref: Gmelin:781913 {source="Gmelin"} xref: HMDB:HMDB0015186 xref: KEGG:C05551 xref: KEGG:D02336 xref: LINCS:LSM-3229 xref: Patent:US3024169 xref: PDBeChem:PNN xref: PMID:10930630 {source="Europe PMC"} xref: PMID:11431418 {source="Europe PMC"} xref: PMID:11906332 {source="Europe PMC"} xref: PMID:12569987 {source="Europe PMC"} xref: PMID:12850488 {source="Europe PMC"} xref: PMID:1384868 {source="Europe PMC"} xref: PMID:16033609 {source="Europe PMC"} xref: PMID:1709917 {source="Europe PMC"} xref: PMID:2083978 {source="Europe PMC"} xref: PMID:24485692 {source="Europe PMC"} xref: PMID:24631718 {source="Europe PMC"} xref: PMID:25998949 {source="Europe PMC"} xref: PMID:27731424 {source="Europe PMC"} xref: PMID:29017833 {source="Europe PMC"} xref: PMID:29355985 {source="Europe PMC"} xref: PMID:6161899 {source="Europe PMC"} xref: PMID:7602118 {source="Europe PMC"} xref: PMID:7716788 {source="Europe PMC"} xref: Reaxys:44740 {source="Reaxys"} xref: Wikipedia:Benzylpenicillin is_a: CHEBI:35627 ! beta-lactam property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C16H18N2O4S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C16H18N2O4S/c1-16(2)12(15(21)22)18-13(20)11(14(18)23-16)17-10(19)8-9-6-4-3-5-7-9/h3-7,11-12,14H,8H2,1-2H3,(H,17,19)(H,21,22)/t11-,12+,14-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JGSARLDLIJGVTE-MBNYWOFBSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "334.392" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "334.09873" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "N12C([C@H]([C@]1(SC([C@@H]2C(O)=O)(C)C)[H])NC(CC3=CC=CC=C3)=O)=O" xsd:string [Term] id: CHEBI:18211 name: citrulline namespace: chebi_ontology alt_id: CHEBI:14002 alt_id: CHEBI:3730 def: "The parent compound of the citrulline class consisting of ornithine having a carbamoyl group at the N(5)-position." [] subset: 3_STAR synonym: "2-amino-5-(carbamoylamino)pentanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "2-Amino-5-uredovaleric acid" RELATED [KEGG_COMPOUND] synonym: "Cit" RELATED [IUPAC] synonym: "citrulina" RELATED [ChEBI] synonym: "Citrullin" RELATED [ChEBI] synonym: "Citrulline" EXACT [KEGG_COMPOUND] synonym: "citrulline" EXACT IUPAC_NAME [IUPAC] synonym: "DL-2-amino-5-ureidovaleric acid" RELATED [ChemIDplus] synonym: "dl-citrulline" RELATED [NIST_Chemistry_WebBook] synonym: "N(5)-(aminocarbonyl)-DL-ornithine" RELATED [NIST_Chemistry_WebBook] synonym: "N(5)-(aminocarbonyl)ornithine" RELATED [ChEBI] synonym: "N(5)-carbamoyl-DL-ornithine" RELATED [NIST_Chemistry_WebBook] synonym: "N(5)-carbamoylornithine" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:1725417 {source="Beilstein"} xref: Beilstein:2328251 {source="Beilstein"} xref: CAS:627-77-0 {source="ChemIDplus"} xref: CAS:627-77-0 {source="NIST Chemistry WebBook"} xref: PMID:11094453 {source="Europe PMC"} xref: PMID:11113071 {source="Europe PMC"} xref: PMID:11696417 {source="Europe PMC"} xref: PMID:1378088 {source="Europe PMC"} xref: PMID:16082501 {source="Europe PMC"} xref: PMID:16708633 {source="Europe PMC"} xref: PMID:17005970 {source="Europe PMC"} xref: PMID:17513438 {source="Europe PMC"} xref: PMID:17558653 {source="Europe PMC"} xref: PMID:17693747 {source="Europe PMC"} xref: PMID:18437289 {source="Europe PMC"} xref: PMID:18440672 {source="Europe PMC"} xref: PMID:18989563 {source="Europe PMC"} xref: PMID:19144577 {source="Europe PMC"} xref: PMID:21129371 {source="Europe PMC"} xref: PMID:21482070 {source="Europe PMC"} xref: Reaxys:1725417 {source="Reaxys"} xref: Wikipedia:Citrulline is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H13N3O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H13N3O3/c7-4(5(10)11)2-1-3-9-6(8)12/h4H,1-3,7H2,(H,10,11)(H3,8,9,12)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RHGKLRLOHDJJDR-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "175.18584" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "175.09569" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NC(CCCNC(N)=O)C(O)=O" xsd:string [Term] id: CHEBI:18212 name: selenite(2-) namespace: chebi_ontology alt_id: CHEBI:15077 alt_id: CHEBI:9090 subset: 3_STAR synonym: "[SeO3](2-)" RELATED [IUPAC] synonym: "Selenit" RELATED [ChEBI] synonym: "Selenite" RELATED [KEGG_COMPOUND] synonym: "selenite" EXACT IUPAC_NAME [IUPAC] synonym: "selenite" RELATED [UniProt] synonym: "trioxidoselenate(2-)" EXACT IUPAC_NAME [IUPAC] synonym: "trioxoselenate(2-)" EXACT IUPAC_NAME [IUPAC] synonym: "trioxoselenate(IV)" EXACT IUPAC_NAME [IUPAC] xref: CAS:14124-67-5 {source="ChemIDplus"} xref: Gmelin:100833 {source="Gmelin"} xref: KEGG:C05684 xref: UM-BBD_compID:c0741 {source="UM-BBD"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "O3Se" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/H2O3Se/c1-4(2)3/h(H2,1,2,3)/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "MCAHWIHFGHIESP-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "126.95820" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "127.90236" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-][Se]([O-])=O" xsd:string [Term] id: CHEBI:18220 name: isoflavone namespace: chebi_ontology alt_id: CHEBI:14467 alt_id: CHEBI:24892 alt_id: CHEBI:6013 def: "A simplest member of the class of isoflavones that is 4H-chromen-4-one in which the hydrogen at position 3 is replaced by a phenyl group." [] subset: 3_STAR synonym: "3-phenyl-4H-1-benzopyran-4-one" RELATED [ChemIDplus] synonym: "3-phenyl-4H-chromen-4-one" EXACT IUPAC_NAME [IUPAC] synonym: "3-Phenylchromone" RELATED [KEGG_COMPOUND] synonym: "Isoflavon" RELATED [ChEBI] synonym: "Isoflavone" EXACT [KEGG_COMPOUND] xref: Beilstein:157731 {source="Beilstein"} xref: CAS:574-12-9 {source="ChemIDplus"} xref: Gmelin:1224833 {source="Gmelin"} xref: KEGG:C00799 xref: LIPID_MAPS_instance:LMPK12050000 {source="LIPID MAPS"} xref: Reaxys:157731 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C15H10O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C15H10O2/c16-15-12-8-4-5-9-14(12)17-10-13(15)11-6-2-1-3-7-11/h1-10H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GOMNOOKGLZYEJT-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "222.23870" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "222.06808" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O=c1c(coc2ccccc12)-c1ccccc1" xsd:string [Term] id: CHEBI:18222 name: xylose namespace: chebi_ontology alt_id: CHEBI:10085 alt_id: CHEBI:15332 alt_id: CHEBI:27348 alt_id: CHEBI:33944 alt_id: CHEBI:46500 def: "An aldopentose, found in the embryos of most edible plants and used in medicine to test for malabsorption by administration in water to the patient." [] subset: 3_STAR synonym: "DL-xylose" RELATED [ChEBI] synonym: "Xyl" RELATED [JCBN] synonym: "xylo-pentose" EXACT IUPAC_NAME [IUPAC] synonym: "Xylose" EXACT [KEGG_COMPOUND] synonym: "xylose" EXACT IUPAC_NAME [IUPAC] xref: KEGG:C01394 xref: MeSH:D014994 xref: NCIt:C66674 xref: SNOMEDCT:19160003 xref: Wikipedia:Xylose is_a: CHEBI:16646 ! carbohydrate property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H10O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "150.130" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "150.05282" xsd:string [Term] id: CHEBI:18243 name: dopamine namespace: chebi_ontology alt_id: CHEBI:11695 alt_id: CHEBI:11930 alt_id: CHEBI:14203 alt_id: CHEBI:1764 alt_id: CHEBI:23886 alt_id: CHEBI:43686 def: "Catechol in which the hydrogen at position 4 is substituted by a 2-aminoethyl group." [] subset: 3_STAR synonym: "2-(3,4-Dihydroxyphenyl)ethylamine" RELATED [KEGG_COMPOUND] synonym: "2-(3,4-dihydroxyphenyl)ethylamine" RELATED [ChEBI] synonym: "3,4-Dihydroxyphenethylamine" RELATED [KEGG_COMPOUND] synonym: "3-Hydroxytyramine" RELATED [ChemIDplus] synonym: "4-(2-Aminoethyl)-1,2-benzenediol" RELATED [KEGG_COMPOUND] synonym: "4-(2-aminoethyl)-1,2-benzenediol" RELATED [ChEBI] synonym: "4-(2-Aminoethyl)benzene-1,2-diol" RELATED [KEGG_COMPOUND] synonym: "4-(2-aminoethyl)benzene-1,2-diol" EXACT IUPAC_NAME [IUPAC] synonym: "4-(2-aminoethyl)catechol" RELATED [ChemIDplus] synonym: "4-(2-aminoethyl)pyrocatechol" RELATED [ChemIDplus] synonym: "Deoxyepinephrine" RELATED [DrugBank] synonym: "dopamina" RELATED INN [ChemIDplus] synonym: "Dopamine" EXACT [KEGG_COMPOUND] synonym: "dopamine" RELATED INN [ChEBI] synonym: "dopaminum" RELATED INN [ChemIDplus] synonym: "Hydroxytyramin" RELATED [DrugBank] xref: CAS:51-61-6 {source="ChemIDplus"} xref: ChEMBL:104584 xref: ChemIDplus:51-61-6 xref: Drug_Central:947 {source="DrugCentral"} xref: DrugBank:DB00988 xref: HMDB:HMDB0000073 xref: KEGG COMPOUND:C03758 xref: KEGG DRUG:D07870 xref: KEGG:C03758 xref: KEGG:D07870 xref: KNApSAcK:C00001408 xref: LINCS:LSM-4630 xref: MeSH:D004298 xref: MetaCyc:DOPAMINE xref: NCIt:C62025 xref: PMID:10629745 {source="Europe PMC"} xref: PMID:11149432 {source="Europe PMC"} xref: PMID:9422813 {source="Europe PMC"} xref: Reaxys:1072822 {source="Reaxys"} xref: SNOMEDCT:412383006 xref: SNOMEDCT:59187003 xref: Wikipedia:Dopamine is_a: CHEBI:33853 ! phenols property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H11NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H11NO2/c9-4-3-6-1-2-7(10)8(11)5-6/h1-2,5,10-11H,3-4,9H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VYFYYTLLBUKUHU-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "153.17840" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "153.07898" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NCCc1ccc(O)c(O)c1" xsd:string [Term] id: CHEBI:18248 name: iron atom namespace: chebi_ontology alt_id: CHEBI:13322 alt_id: CHEBI:24872 alt_id: CHEBI:5974 def: "An iron group element atom that has atomic number 26." [] subset: 3_STAR synonym: "26Fe" RELATED [IUPAC] synonym: "Eisen" RELATED [ChEBI] synonym: "Fe" RELATED [UniProt] synonym: "Fe" RELATED [IUPAC] synonym: "fer" RELATED [ChEBI] synonym: "ferrum" RELATED [IUPAC] synonym: "hierro" RELATED [ChEBI] synonym: "Iron" RELATED [KEGG_COMPOUND] synonym: "iron" EXACT IUPAC_NAME [IUPAC] synonym: "iron" RELATED [ChEBI] xref: CAS:7439-89-6 {source="ChemIDplus"} xref: CAS:7439-89-6 {source="NIST Chemistry WebBook"} xref: CAS:7439-89-6 {source="KEGG COMPOUND"} xref: DrugBank:DB01592 xref: HMDB:HMDB0015531 xref: KEGG:C00023 xref: MeSH:D007501 xref: NCIt:C598 xref: Reaxys:4122945 {source="Reaxys"} xref: SNOMEDCT:3829006 xref: WebElements:Fe is_a: CHEBI:33250 ! atom property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "Fe" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/Fe" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XEEYBQQBJWHFJM-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "55.84500" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "55.93494" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Fe]" xsd:string [Term] id: CHEBI:18257 name: ornithine namespace: chebi_ontology alt_id: CHEBI:7784 def: "An alpha-amino acid that is pentanoic acid bearing two amino substituents at positions 2 and 5." [] subset: 3_STAR synonym: "2,5-Diaminopentanoic acid" RELATED [KEGG_COMPOUND] synonym: "2,5-diaminopentanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "2,5-Diaminovaleric acid" RELATED [KEGG_COMPOUND] synonym: "DL-Ornithine" RELATED [ChemIDplus] synonym: "Orn" RELATED [IUPAC] synonym: "Ornithine" EXACT [KEGG_COMPOUND] synonym: "ornithine" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:1722296 {source="Beilstein"} xref: CAS:616-07-9 {source="ChemIDplus"} xref: Gmelin:847696 {source="Gmelin"} xref: KEGG:C01602 xref: KNApSAcK:C00001384 xref: PMID:15449570 {source="Europe PMC"} xref: PMID:17190852 {source="Europe PMC"} xref: PMID:22264337 {source="Europe PMC"} xref: Reaxys:1722296 {source="Reaxys"} is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H12N2O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H12N2O2/c6-3-1-2-4(7)5(8)9/h4H,1-3,6-7H2,(H,8,9)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "AHLPHDHHMVZTML-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "132.16106" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "132.08988" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NCCCC(N)C(O)=O" xsd:string [Term] id: CHEBI:18258 name: 3,3',5-triiodo-L-thyronine namespace: chebi_ontology alt_id: CHEBI:11701 alt_id: CHEBI:11702 alt_id: CHEBI:13059 alt_id: CHEBI:19894 alt_id: CHEBI:45840 alt_id: CHEBI:9722 def: "An iodothyronine compound having iodo substituents at the 3-, 3'- and 5-positions. Although some is produced in the thyroid, most of the 3,3',5-triiodo-L-thyronine in the body is generated by mono-deiodination of L-thyroxine in the peripheral tissues. Its metabolic activity is about 3 to 5 times that of L-thyroxine. The sodium salt is used in the treatment of hypothyroidism." [] subset: 3_STAR synonym: "3,3',5-triiodo-L-thyronine" EXACT IUPAC_NAME [IUPAC] synonym: "3,5,3'-Triiodo-L-thyronine" RELATED [KEGG_COMPOUND] synonym: "3,5,3'-Triiodothyronine" RELATED [KEGG_COMPOUND] synonym: "3,5,3'TRIIODOTHYRONINE" RELATED [PDBeChem] synonym: "4-(4-hydroxy-3-iodophenoxy)-3,5-diiodo-L-phenylalanine" RELATED [IUPAC] synonym: "L-3,5,3'-Triiodothyronine" RELATED [KEGG_COMPOUND] synonym: "L-T3" RELATED [ChemIDplus] synonym: "Liothyronine" RELATED [KEGG_COMPOUND] synonym: "liothyronine" RELATED INN [ChEBI] synonym: "liothyronine" RELATED INN [ChemIDplus] synonym: "liothyroninum" RELATED INN [ChemIDplus] synonym: "liotironina" RELATED INN [ChemIDplus] synonym: "O-(4-hydroxy-3-iodophenyl)-3,5-diiodo-L-tyrosine" RELATED [IUPAC] synonym: "T3" RELATED [ChEBI] synonym: "T3" RELATED [KEGG_COMPOUND] synonym: "Tertroxin" RELATED BRAND_NAME [DrugBank] synonym: "Tresitope" RELATED BRAND_NAME [DrugBank] synonym: "Triiodothyronine" RELATED [KEGG_COMPOUND] xref: Beilstein:2710227 {source="Beilstein"} xref: CAS:6893-02-3 {source="ChemIDplus"} xref: CAS:6893-02-3 {source="KEGG COMPOUND"} xref: ChemIDplus:6893-02-3 xref: CiteXplore:15206581 xref: Drug_Central:1585 {source="DrugCentral"} xref: DrugBank:DB00279 xref: HMDB:HMDB0000265 xref: KEGG COMPOUND:6893-02-3 xref: KEGG COMPOUND:C02465 xref: KEGG:C02465 xref: KEGG:D08128 xref: LINCS:LSM-3991 xref: MeSH:D014284 xref: MetaCyc:CPD-10813 xref: NCIt:C2303 xref: NCIt:C907 xref: PDBeChem:T3 xref: PMID:11738632 {source="Europe PMC"} xref: PMID:15206581 {source="Europe PMC"} xref: PMID:19339791 {source="Europe PMC"} xref: Reaxys:2710227 {source="Reaxys"} xref: SNOMEDCT:350358003 xref: SNOMEDCT:61275002 xref: Wikipedia:Triiodothyronine is_a: CHEBI:33709 ! amino acid is_a: CHEBI:33853 ! phenols relationship: has_role EFO:0001824 ! hormone role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C15H12I3NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C15H12I3NO4/c16-9-6-8(1-2-13(9)20)23-14-10(17)3-7(4-11(14)18)5-12(19)15(21)22/h1-4,6,12,20H,5,19H2,(H,21,22)/t12-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "AUYYCJSJGJYCDS-LBPRGKRZSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "650.97350" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "650.79004" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "N[C@@H](Cc1cc(I)c(Oc2ccc(O)c(I)c2)c(I)c1)C(O)=O" xsd:string [Term] id: CHEBI:18261 name: N-carbamoyl-beta-alanine namespace: chebi_ontology alt_id: CHEBI:12495 alt_id: CHEBI:1671 alt_id: CHEBI:21690 alt_id: CHEBI:46352 def: "A beta-alanine derivative that is propionic acid bearing a ureido group at position 3." [] subset: 3_STAR synonym: "3-(carbamoylamino)propanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "3-[(aminocarbonyl)amino]propanoic acid" RELATED [ChEBI] synonym: "3-Ureidopropanoate" RELATED [KEGG_COMPOUND] synonym: "3-ureidopropanoic acid" RELATED [HMDB] synonym: "3-Ureidopropionate" RELATED [KEGG_COMPOUND] synonym: "3-Ureidopropionic acid" RELATED [HMDB] synonym: "beta-Ureidopropionic acid" RELATED [KEGG_COMPOUND] synonym: "N-(AMINOCARBONYL)-BETA-ALANINE" RELATED [PDBeChem] synonym: "N-(aminocarbonyl)-beta-alanine" RELATED [ChemIDplus] synonym: "N-Carbamoyl-beta-alanine" EXACT [KEGG_COMPOUND] synonym: "N-carbamoyl-beta-alanine" EXACT [ChEBI] synonym: "N-carbamoyl-beta-alanine" EXACT IUPAC_NAME [IUPAC] synonym: "N-carbamoyl-beta-alanine" EXACT [PDBeChem] synonym: "Ureidopropanoic acid" RELATED [ChEBI] synonym: "Ureidopropionic acid" RELATED [HMDB] xref: Beilstein:1705263 {source="Beilstein"} xref: CAS:462-88-4 {source="KEGG COMPOUND"} xref: CAS:462-88-4 {source="ChemIDplus"} xref: Gmelin:675230 {source="Gmelin"} xref: HMDB:HMDB0000026 xref: KEGG:C02642 xref: MetaCyc:3-UREIDO-PROPIONATE xref: PDBeChem:URP xref: PMID:1536562 {source="Europe PMC"} xref: PMID:17190852 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: Reaxys:1705263 {source="Reaxys"} xref: Wikipedia:3-Ureidopropionic_acid is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H8N2O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H8N2O3/c5-4(9)6-2-1-3(7)8/h1-2H2,(H,7,8)(H3,5,6,9)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JSJWCHRYRHKBBW-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "132.11800" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "132.05349" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NC(=O)NCCC(O)=O" xsd:string [Term] id: CHEBI:18262 name: dodecanoate namespace: chebi_ontology alt_id: CHEBI:14187 alt_id: CHEBI:23863 def: "A medium-chain fatty acid anion that is the conjugate base of dodecanoic acid (lauric acid); major species at pH 7.3." [] subset: 3_STAR synonym: "1-undecanecarboxylate" RELATED [ChEBI] synonym: "C12 fatty acid anion" RELATED [ChEBI] synonym: "CH3-[CH2]10-COO(-)" RELATED [IUPAC] synonym: "dodecanoate" EXACT [UniProt] synonym: "dodecanoate" EXACT IUPAC_NAME [IUPAC] synonym: "dodecoate" RELATED [ChEBI] synonym: "dodecylate" RELATED [ChEBI] synonym: "duodecyclate" RELATED [ChEBI] synonym: "duodecylate" RELATED [ChEBI] synonym: "laurate" RELATED [ChEBI] synonym: "laurostearate" RELATED [ChEBI] synonym: "n-dodecanoate" RELATED [ChEBI] synonym: "undecane-1-carboxylate" RELATED [ChEBI] synonym: "vulvate" RELATED [ChEBI] xref: Beilstein:3588839 {source="Beilstein"} xref: Gmelin:333430 {source="Gmelin"} xref: KEGG:C02679 xref: MetaCyc:DODECANOATE xref: Reaxys:3588839 {source="Reaxys"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12H23O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C12H24O2/c1-2-3-4-5-6-7-8-9-10-11-12(13)14/h2-11H2,1H3,(H,13,14)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "POULHZVOKOAJMA-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "199.310" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "199.17035" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(CCCCCCCC)CCC([O-])=O" xsd:string [Term] id: CHEBI:18292 name: jasmonic acid namespace: chebi_ontology alt_id: CHEBI:14486 alt_id: CHEBI:18487 alt_id: CHEBI:95 def: "An oxo monocarboxylic acid that is (3-oxocyclopentyl)acetic acid substituted by a (2Z)-pent-2-en-1-yl group at position 2 of the cyclopentane ring." [] subset: 3_STAR synonym: "(-)-Jasmonic acid" RELATED [KEGG_COMPOUND] synonym: "(-)-jasmonic acid" RELATED [ChEBI] synonym: "(1R,2R)-3-oxo-2-(2Z)-2-penten-ylcyclopentanacetic acid" RELATED [ChEBI] synonym: "(1R,2R)-3-oxo-2-(pent-2Z-enyl)-cyclopentaneacetic acid" RELATED [LIPID_MAPS] synonym: "2-{(1R,2R)-3-oxo-2-[(Z)-pent-2-enyl]cyclopentyl}acetate" RELATED [IUBMB] synonym: "Jasmonate" RELATED [KEGG_COMPOUND] synonym: "Jasmonic acid" EXACT [KEGG_COMPOUND] synonym: "{(1R,2R)-3-oxo-2-[(2Z)-pent-2-en-1-yl]cyclopentyl}acetic acid" EXACT IUPAC_NAME [IUPAC] xref: BPDB:2440 xref: CAS:6894-38-8 {source="ChemIDplus"} xref: CAS:6894-38-8 {source="KEGG COMPOUND"} xref: Chemspider:4444606 xref: FooDB:FDB015493 xref: HMDB:HMDB0032797 xref: KEGG:C08491 xref: KNApSAcK:C00000218 xref: LIPID_MAPS_instance:LMFA02020001 {source="LIPID MAPS"} xref: MeSH:C011006 xref: PDBeChem:JAA xref: PMID:17470145 {source="Europe PMC"} xref: PMID:19704561 {source="Europe PMC"} xref: PMID:28223489 {source="Europe PMC"} xref: PMID:33516967 {source="Europe PMC"} xref: Reaxys:2692609 {source="Reaxys"} xref: Wikipedia:Jasmonic_acid is_a: EFO:0004416 ! acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12H18O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C12H18O3/c1-2-3-4-5-10-9(8-12(14)15)6-7-11(10)13/h3-4,9-10H,2,5-8H2,1H3,(H,14,15)/b4-3-/t9-,10-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ZNJFBWYDHIGLCU-HWKXXFMVSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "210.273" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "210.12559" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC\\C=C/C[C@@H]1[C@@H](CC(O)=O)CCC1=O" xsd:string [Term] id: CHEBI:18320 name: 1,4-dithiothreitol namespace: chebi_ontology alt_id: CHEBI:11174 alt_id: CHEBI:23854 alt_id: CHEBI:4664 def: "The threo-diastereomer of 1,4-dimercaptobutane-2,3-diol." [] subset: 3_STAR synonym: "(R*,R*)-1,4-dimercapto-2,3-butanediol" RELATED [NIST_Chemistry_WebBook] synonym: "1,4-Dithiothreitol" EXACT [KEGG_COMPOUND] synonym: "1,4-dithiothreitol" EXACT [UniProt] synonym: "Cleland's reagent" RELATED [NIST_Chemistry_WebBook] synonym: "Dithiothreitol" RELATED [KEGG_COMPOUND] synonym: "Dithiotreitol" RELATED [ChemIDplus] synonym: "DL-threo-1,4-Dimercapto-2,3-butanediol" RELATED [ChemIDplus] synonym: "DTL" RELATED [ChEBI] synonym: "DTT" RELATED [ChEBI] synonym: "rac-Dithiothreitol" RELATED [ChemIDplus] synonym: "rel-(2R,3R)-1,4-disulfanylbutane-2,3-diol" EXACT IUPAC_NAME [IUPAC] synonym: "threo-1,4-Dimercapto-2,3-butanediol" RELATED [KEGG_COMPOUND] xref: Beilstein:8144556 {source="Beilstein"} xref: CAS:3483-12-3 {source="ChemIDplus"} xref: CAS:3483-12-3 {source="NIST Chemistry WebBook"} xref: CAS:3483-12-3 {source="KEGG COMPOUND"} xref: DrugBank:DB04447 xref: KEGG:C00265 xref: LINCS:LSM-36870 xref: PMID:16901854 {source="Europe PMC"} xref: PMID:18022205 {source="Europe PMC"} xref: PMID:23673948 {source="Europe PMC"} xref: PMID:24124079 {source="Europe PMC"} xref: PMID:7592847 {source="Europe PMC"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H10O2S2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H10O2S2/c5-3(1-7)4(6)2-8/h3-8H,1-2H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VHJLVAABSRFDPM-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "154.25100" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "154.01222" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(CS)C(O)CS" xsd:string [Term] id: CHEBI:18344 name: kynurenic acid namespace: chebi_ontology alt_id: CHEBI:14495 alt_id: CHEBI:1841 alt_id: CHEBI:20378 def: "A quinolinemonocarboxylic acid that is quinoline-2-carboxylic acid substituted by a hydroxy group at C-4." [] subset: 3_STAR synonym: "4-Hydroxy-2-chinolincarbonsaeure" RELATED [ChEBI] synonym: "4-Hydroxy-2-quinolinecarboxylic acid" RELATED [KEGG_COMPOUND] synonym: "4-hydroxy-2-quinolinecarboxylic acid" RELATED [ChEBI] synonym: "4-hydroxyquinaldic acid" RELATED [ChemIDplus] synonym: "4-hydroxyquinaldinic acid" RELATED [ChemIDplus] synonym: "4-hydroxyquinoline-2-carboxylic acid" EXACT IUPAC_NAME [IUPAC] synonym: "Kynurenate" RELATED [KEGG_COMPOUND] synonym: "Kynurenic acid" EXACT [KEGG_COMPOUND] synonym: "Kynurensaeure" RELATED [ChEBI] xref: Beilstein:147451 {source="Beilstein"} xref: CAS:492-27-3 {source="ChemIDplus"} xref: CAS:492-27-3 {source="KEGG COMPOUND"} xref: HMDB:HMDB0000715 xref: KEGG:C01717 xref: KNApSAcK:C00026453 xref: KNApSAcK:C00026494 xref: LINCS:LSM-24962 xref: MetaCyc:KYNURENATE xref: PDBeChem:KYA xref: PMID:10088651 {source="Europe PMC"} xref: PMID:10867830 {source="Europe PMC"} xref: PMID:10881031 {source="Europe PMC"} xref: PMID:11051465 {source="Europe PMC"} xref: PMID:11129102 {source="Europe PMC"} xref: PMID:11191832 {source="Europe PMC"} xref: PMID:11244357 {source="Europe PMC"} xref: PMID:11334243 {source="Europe PMC"} xref: PMID:11452979 {source="Europe PMC"} xref: PMID:11521749 {source="Europe PMC"} xref: PMID:11982504 {source="Europe PMC"} xref: PMID:12503245 {source="Europe PMC"} xref: PMID:12757473 {source="Europe PMC"} xref: PMID:12926536 {source="Europe PMC"} xref: PMID:14724046 {source="Europe PMC"} xref: PMID:14770276 {source="Europe PMC"} xref: PMID:15206728 {source="Europe PMC"} xref: PMID:15364012 {source="Europe PMC"} xref: PMID:15517427 {source="Europe PMC"} xref: PMID:15605380 {source="Europe PMC"} xref: PMID:15961072 {source="Europe PMC"} xref: PMID:16088227 {source="Europe PMC"} xref: PMID:16220290 {source="Europe PMC"} xref: PMID:16388784 {source="Europe PMC"} xref: PMID:16416446 {source="Europe PMC"} xref: PMID:16457470 {source="Europe PMC"} xref: PMID:16603336 {source="Europe PMC"} xref: PMID:16644124 {source="Europe PMC"} xref: PMID:16845213 {source="Europe PMC"} xref: PMID:16888405 {source="Europe PMC"} xref: PMID:16920787 {source="Europe PMC"} xref: PMID:17023091 {source="Europe PMC"} xref: PMID:17364732 {source="Europe PMC"} xref: PMID:17573079 {source="Europe PMC"} xref: PMID:17959203 {source="Europe PMC"} xref: PMID:18231708 {source="Europe PMC"} xref: PMID:18235993 {source="Europe PMC"} xref: PMID:18346850 {source="Europe PMC"} xref: PMID:18462830 {source="Europe PMC"} xref: PMID:18836681 {source="Europe PMC"} xref: PMID:18950711 {source="Europe PMC"} xref: PMID:19187269 {source="Europe PMC"} xref: PMID:19523966 {source="Europe PMC"} xref: PMID:19616570 {source="Europe PMC"} xref: PMID:19815960 {source="Europe PMC"} xref: PMID:19816853 {source="Europe PMC"} xref: PMID:22065206 {source="Europe PMC"} xref: PMID:22108572 {source="Europe PMC"} xref: PMID:22224417 {source="Europe PMC"} xref: PMID:22732505 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: PMID:22814028 {source="Europe PMC"} xref: PMID:22915278 {source="Europe PMC"} xref: PMID:23030614 {source="Europe PMC"} xref: PMID:7882580 {source="Europe PMC"} xref: PMID:8579218 {source="Europe PMC"} xref: PMID:8637415 {source="Europe PMC"} xref: PMID:9078543 {source="Europe PMC"} xref: Reaxys:147451 {source="Reaxys"} xref: Wikipedia:Kynurenic_acid is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H7NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H7NO3/c12-9-5-8(10(13)14)11-7-4-2-1-3-6(7)9/h1-5H,(H,11,12)(H,13,14)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HCZHHEIFKROPDY-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "189.16750" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "189.04259" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)c1cc(O)c2ccccc2n1" xsd:string [Term] id: CHEBI:18401 name: phenylacetate namespace: chebi_ontology alt_id: CHEBI:14779 alt_id: CHEBI:25975 def: "A monocarboxylic acid anion that is the conjugate base of phenylacetic acid." [] subset: 3_STAR synonym: "2-phenylacetate" RELATED [UniProt] synonym: "2-phenylethanoate" RELATED [ChEBI] synonym: "phenylacetate" EXACT IUPAC_NAME [IUPAC] synonym: "phenylacetate anion" RELATED [ChEBI] synonym: "phenylacetate(1-)" RELATED [ChEBI] synonym: "phenylacetic acid anion" RELATED [ChEBI] xref: Beilstein:3539899 {source="Beilstein"} xref: Gmelin:327522 {source="Gmelin"} xref: MetaCyc:PHENYLACETATE xref: Reaxys:3539899 {source="Reaxys"} xref: UM-BBD_compID:c0211 {source="UM-BBD"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H7O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H8O2/c9-8(10)6-7-4-2-1-3-5-7/h1-5H,6H2,(H,9,10)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WLJVXDMOQOGPHL-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "135.13998" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "135.04515" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-]C(=O)Cc1ccccc1" xsd:string [Term] id: CHEBI:18406 name: AICA ribonucleotide namespace: chebi_ontology alt_id: CHEBI:12102 alt_id: CHEBI:18966 alt_id: CHEBI:40739 alt_id: CHEBI:573 def: "A 1-(phosphoribosyl)imidazolecarboxamide that is acadesine in which the hydroxy group at the 5' position has been converted to its monophosphate derivative." [] subset: 3_STAR synonym: "1-(5'-Phosphoribosyl)-5-amino-4-imidazolecarboxamide" RELATED [KEGG_COMPOUND] synonym: "1-(5'-phosphoribosyl)-5-amino-4-imidazolecarboxamide" RELATED [ChEBI] synonym: "5'-Phospho-ribosyl-5-amino-4-imidazole carboxamide" RELATED [KEGG_COMPOUND] synonym: "5'-phospho-ribosyl-5-amino-4-imidazole carboxamide" RELATED [ChEBI] synonym: "5'-Phosphoribosyl-5-amino-4-imidazolecarboxamide" RELATED [KEGG_COMPOUND] synonym: "5'-phosphoribosyl-5-amino-4-imidazolecarboxamide" RELATED [ChEBI] synonym: "5-amino-1-(5-O-phosphono-beta-D-ribofuranosyl)-1H-imidazole-4-carboxamide" EXACT IUPAC_NAME [IUPAC] synonym: "5-Amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide" RELATED [KEGG_COMPOUND] synonym: "5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide" RELATED [ChEBI] synonym: "5-Aminoimidazole-4-carboxamide ribotide" RELATED [KEGG_COMPOUND] synonym: "5-aminoimidazole-4-carboxamide ribotide" RELATED [ChEBI] synonym: "5-Phosphoribosyl-4-carbamoyl-5-aminoimidazole" RELATED [KEGG_COMPOUND] synonym: "5-phosphoribosyl-4-carbamoyl-5-aminoimidazole" RELATED [ChEBI] synonym: "acadesine 5'-monophosphate" RELATED [ChEBI] synonym: "Aica ribonucleotide" EXACT [ChemIDplus] synonym: "AICA-ribonucleotide" RELATED [ChEBI] synonym: "AICAR" RELATED [KEGG_COMPOUND] xref: CAS:3031-94-5 {source="KEGG COMPOUND"} xref: DrugBank:DB01700 xref: ECMDB:ECMDB01517 xref: HMDB:HMDB0001517 xref: KEGG:C04677 xref: KNApSAcK:C00007383 xref: PDBeChem:AMZ xref: PMID:23988673 {source="Europe PMC"} xref: PMID:25078608 {source="Europe PMC"} xref: PMID:8227467 {source="Europe PMC"} xref: Reaxys:52565 {source="Reaxys"} xref: Wikipedia:AICA_ribonucleotide xref: YMDB:YMDB01481 is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:26020 ! phosphate property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H15N4O8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H15N4O8P/c10-7-4(8(11)16)12-2-13(7)9-6(15)5(14)3(21-9)1-20-22(17,18)19/h2-3,5-6,9,14-15H,1,10H2,(H2,11,16)(H2,17,18,19)/t3-,5-,6-,9-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NOTGFIUVDGNKRI-UUOKFMHZSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "338.21120" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "338.06275" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NC(=O)c1ncn([C@@H]2O[C@H](COP(O)(O)=O)[C@@H](O)[C@H]2O)c1N" xsd:string [Term] id: CHEBI:184217 name: PC(19:3(10Z,13Z,16Z)/0:0) namespace: chebi_ontology subset: 2_STAR synonym: "[(2R)-2-hydroxy-3-[(10Z,13Z,16Z)-nonadeca-10,13,16-trienoyl]oxypropyl] 2-(trimethylazaniumyl)ethyl phosphate" EXACT IUPAC_NAME [SUBMITTER] xref: Chemspider:24823001 xref: LIPID_MAPS_instance:LMGP01050003 {source="LIPID MAPS"} is_a: CHEBI:60479 ! lysophosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C27H50NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C27H50NO7P/c1-5-6-7-8-9-10-11-12-13-14-15-16-17-18-19-20-21-27(30)33-24-26(29)25-35-36(31,32)34-23-22-28(2,3)4/h6-7,9-10,12-13,26,29H,5,8,11,14-25H2,1-4H3/b7-6-,10-9-,13-12-/t26-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YWILQZMMAROEQS-MQIAJVHNSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "531.671" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "531.33249" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "P(OCC[N+](C)(C)C)(OC[C@H](O)COC(=O)CCCCCCCC/C=C\\C/C=C\\C/C=C\\CC)([O-])=O" xsd:string [Term] id: CHEBI:18422 name: sulfur dioxide namespace: chebi_ontology alt_id: CHEBI:45789 alt_id: CHEBI:8992 alt_id: CHEBI:9351 subset: 3_STAR synonym: "[SO2]" RELATED [IUPAC] synonym: "dioxidosulfur" EXACT IUPAC_NAME [IUPAC] synonym: "R-764" RELATED [ChEBI] synonym: "Schwefel(IV)-oxid" RELATED [ChEBI] synonym: "Schwefeldioxid" RELATED [ChemIDplus] synonym: "SO2" RELATED [IUPAC] synonym: "SO2" RELATED [KEGG_COMPOUND] synonym: "SULFUR DIOXIDE" EXACT [PDBeChem] synonym: "Sulfur dioxide" EXACT [KEGG_COMPOUND] synonym: "sulfur dioxide" EXACT IUPAC_NAME [IUPAC] synonym: "sulfurous anhydride" RELATED [NIST_Chemistry_WebBook] synonym: "sulfurous oxide" RELATED [NIST_Chemistry_WebBook] synonym: "sulphur dioxide" RELATED [NIST_Chemistry_WebBook] xref: CAS:7446-09-5 {source="ChemIDplus"} xref: CAS:7446-09-5 {source="NIST Chemistry WebBook"} xref: CAS:7446-09-5 {source="KEGG COMPOUND"} xref: Gmelin:1443 {source="Gmelin"} xref: KEGG:C05532 xref: KEGG:C09306 xref: KEGG:D05961 xref: PDBeChem:SO2 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "O2S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/O2S/c1-3-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RAHZWNYVWXNFOC-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "64.06480" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "63.96190" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O=S=O" xsd:string [Term] id: CHEBI:185095 name: PS(O-20:0/22:6(4Z,7Z,10Z,13Z,16Z,19Z)) namespace: chebi_ontology subset: 2_STAR synonym: "(2S)-2-amino-3-[[(2R)-2-[(4Z,7Z,10Z,13Z,16Z,19Z)-docosa-4,7,10,13,16,19-hexaenoyl]oxy-3-icosoxypropoxy]-hydroxyphosphoryl]oxypropanoic acid" EXACT IUPAC_NAME [SUBMITTER] xref: Chemspider:113376658 xref: LIPID_MAPS_instance:LMGP03020093 {source="LIPID MAPS"} is_a: CHEBI:16247 ! phospholipid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C48H84NO9P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C48H84NO9P/c1-3-5-7-9-11-13-15-17-19-21-23-24-26-28-30-32-34-36-38-40-47(50)58-45(43-56-59(53,54)57-44-46(49)48(51)52)42-55-41-39-37-35-33-31-29-27-25-22-20-18-16-14-12-10-8-6-4-2/h5,7,11,13,17,19,23-24,28,30,34,36,45-46H,3-4,6,8-10,12,14-16,18,20-22,25-27,29,31-33,35,37-44,49H2,1-2H3,(H,51,52)(H,53,54)/b7-5-,13-11-,19-17-,24-23-,30-28-,36-34-/t45-,46+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IMPNVTNIOWYGKT-GJYKSQESSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "850.172" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "849.58837" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "P(OC[C@H](OC(=O)CC/C=C\\C/C=C\\C/C=C\\C/C=C\\C/C=C\\C/C=C\\CC)COCCCCCCCCCCCCCCCCCCCC)(OC[C@H](N)C(O)=O)(O)=O" xsd:string [Term] id: CHEBI:185277 name: 5-hydroperoxy-7-[3,5-epidioxy-2-(2-octenyl)-cyclopentyl]-6-heptenoic acid namespace: chebi_ontology subset: 2_STAR synonym: "(6Z)-5-hydroperoxy-6-[6-[(E)-oct-2-enyl]-2,3-dioxabicyclo[2.2.1]heptan-5-ylidene]hexanoic acid" EXACT IUPAC_NAME [SUBMITTER] xref: Chemspider:4445995 xref: LIPID_MAPS_instance:LMFA01040028 {source="LIPID MAPS"} is_a: CHEBI:35366 ! fatty acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H30O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H30O6/c1-2-3-4-5-6-7-10-15-16(18-13-17(15)24-25-18)12-14(23-22)9-8-11-19(20)21/h6-7,12,14-15,17-18,22H,2-5,8-11,13H2,1H3,(H,20,21)/b7-6+,16-12-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RMDWPORTSLRMPB-SDHWVOLWSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "354.443" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "354.20424" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O1OC\\2CC1C(/C2=C/C(OO)CCCC(O)=O)C/C=C/CCCCC" xsd:string [Term] id: CHEBI:185613 name: Sphingofungin B namespace: chebi_ontology subset: 2_STAR synonym: "(E,2S,3R,4R,5S,14R)-2-amino-3,4,5,14-tetrahydroxyicos-6-enoic acid" EXACT IUPAC_NAME [SUBMITTER] xref: CAS:121025-45-4 {source="ChemIDplus"} xref: Chemspider:4943512 xref: LIPID_MAPS_instance:LMSP01080062 {source="LIPID MAPS"} is_a: CHEBI:35366 ! fatty acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H39NO6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H39NO6/c1-2-3-4-9-12-15(22)13-10-7-5-6-8-11-14-16(23)18(24)19(25)17(21)20(26)27/h11,14-19,22-25H,2-10,12-13,21H2,1H3,(H,26,27)/b14-11+/t15-,16+,17+,18-,19-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UAPFYKYEEDCCTL-MXSQXUFFSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "389.533" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "389.27774" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O[C@@H](CCCCCC/C=C/[C@H](O)[C@@H](O)[C@H](O)[C@H](N)C(O)=O)CCCCCC" xsd:string [Term] id: CHEBI:185922 name: Isoferulic acid 3-O-glucuronide namespace: chebi_ontology subset: 2_STAR synonym: "(2S,3S,4S,5R,6S)-6-[5-[(E)-2-carboxyethenyl]-2-methoxyphenoxy]-3,4,5-trihydroxyoxane-2-carboxylic acid" EXACT IUPAC_NAME [SUBMITTER] xref: Chemspider:30777633 xref: HMDB:HMDB0041747 xref: MeSH:C001943 is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:25435 ! mutagen property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C16H18O10" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C16H18O10/c1-24-8-4-2-7(3-5-10(17)18)6-9(8)25-16-13(21)11(19)12(20)14(26-16)15(22)23/h2-6,11-14,16,19-21H,1H3,(H,17,18)(H,22,23)/b5-3+/t11-,12-,13+,14-,16+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SHJZLGVIOYFHCB-MBAOVNHDSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "370.310" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "370.09000" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O1[C@@H]([C@@H](O)[C@H](O)[C@@H](O)[C@@H]1OC2=C(OC)C=CC(=C2)/C=C/C(O)=O)C(O)=O" xsd:string [Term] id: CHEBI:186604 name: N-linolenoyl glutamine namespace: chebi_ontology subset: 2_STAR synonym: "(2S)-5-amino-2-[[(9Z,12Z,15Z)-octadeca-9,12,15-trienoyl]amino]-5-oxopentanoic acid" EXACT IUPAC_NAME [SUBMITTER] xref: Chemspider:20128289 xref: LIPID_MAPS_instance:LMFA08020213 {source="LIPID MAPS"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C23H38N2O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C23H38N2O4/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-22(27)25-20(23(28)29)18-19-21(24)26/h3-4,6-7,9-10,20H,2,5,8,11-19H2,1H3,(H2,24,26)(H,25,27)(H,28,29)/b4-3-,7-6-,10-9-/t20-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FEFAAEYMDHYUFL-IWFQAGGASA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "406.567" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "406.28316" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O=C(N[C@@H](CCC(=O)N)C(O)=O)CCCCCCC/C=C\\C/C=C\\C/C=C\\CC" xsd:string [Term] id: CHEBI:18723 name: nicotine namespace: chebi_ontology def: "A racemate composed of equimolar amounts of (R)- and (S)-nicotine." [] subset: 3_STAR synonym: "(+-)-3-(1-Methyl-2-pyrrolidinyl)pyridine" RELATED [KEGG_COMPOUND] synonym: "(+-)-nicotine" RELATED [ChemIDplus] synonym: "(R,S)-nicotine" RELATED [ChemIDplus] synonym: "(RS)-nicotine" RELATED [UM-BBD] synonym: "nicotin" RELATED [ChEBI] synonym: "nikotin" RELATED [ChEBI] synonym: "rac-3-(1-methylpyrrolidin-2-yl)pyridine" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:82108 {source="Beilstein"} xref: Beilstein:82111 {source="Beilstein"} xref: CAS:22083-74-5 {source="ChemIDplus"} xref: CAS:22083-74-5 {source="KEGG COMPOUND"} xref: DrugBank:DB00184 xref: HMDB:HMDB0014330 xref: KEGG:C16150 xref: KNApSAcK:C00002057 xref: MeSH:D009538 xref: NCIt:C691 xref: PMID:10751565 {source="Europe PMC"} xref: PMID:11192937 {source="Europe PMC"} xref: PMID:11471991 {source="Europe PMC"} xref: PMID:11559179 {source="Europe PMC"} xref: PMID:11682702 {source="Europe PMC"} xref: PMID:11714820 {source="Europe PMC"} xref: PMID:11719700 {source="Europe PMC"} xref: PMID:11801622 {source="Europe PMC"} xref: PMID:11818389 {source="Europe PMC"} xref: PMID:11860617 {source="Europe PMC"} xref: PMID:12197757 {source="Europe PMC"} xref: PMID:12700710 {source="Europe PMC"} xref: PMID:12965231 {source="Europe PMC"} xref: PMID:14715938 {source="Europe PMC"} xref: PMID:15183514 {source="Europe PMC"} xref: PMID:15251917 {source="Europe PMC"} xref: PMID:15313135 {source="Europe PMC"} xref: PMID:15458549 {source="Europe PMC"} xref: PMID:15707677 {source="Europe PMC"} xref: PMID:15894687 {source="Europe PMC"} xref: PMID:15960296 {source="Europe PMC"} xref: PMID:15961264 {source="Europe PMC"} xref: PMID:16496293 {source="Europe PMC"} xref: PMID:16950410 {source="Europe PMC"} xref: PMID:17167832 {source="Europe PMC"} xref: PMID:17206646 {source="Europe PMC"} xref: PMID:17438652 {source="Europe PMC"} xref: PMID:17498149 {source="Europe PMC"} xref: PMID:17942810 {source="Europe PMC"} xref: PMID:18077004 {source="Europe PMC"} xref: PMID:18311975 {source="Europe PMC"} xref: PMID:18380035 {source="Europe PMC"} xref: PMID:18383130 {source="Europe PMC"} xref: PMID:18651995 {source="Europe PMC"} xref: PMID:18922921 {source="Europe PMC"} xref: PMID:19100331 {source="Europe PMC"} xref: PMID:19287496 {source="Europe PMC"} xref: PMID:19389046 {source="Europe PMC"} xref: PMID:19465085 {source="Europe PMC"} xref: PMID:20338106 {source="Europe PMC"} xref: PMID:20528766 {source="Europe PMC"} xref: PMID:21636612 {source="Europe PMC"} xref: PMID:21822688 {source="Europe PMC"} xref: PMID:21945235 {source="Europe PMC"} xref: PMID:22129149 {source="Europe PMC"} xref: PMID:22218403 {source="Europe PMC"} xref: PMID:22331007 {source="Europe PMC"} xref: PMID:22377934 {source="Europe PMC"} xref: PMID:22448647 {source="Europe PMC"} xref: PMID:22459798 {source="Europe PMC"} xref: PMID:22529223 {source="Europe PMC"} xref: PMID:22573728 {source="Europe PMC"} xref: PMID:22585541 {source="Europe PMC"} xref: PMID:22589423 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: PMID:22792725 {source="Europe PMC"} xref: PMID:22855884 {source="Europe PMC"} xref: PMID:22930863 {source="Europe PMC"} xref: PMID:22935730 {source="Europe PMC"} xref: PMID:23108361 {source="Europe PMC"} xref: PMID:23117126 {source="Europe PMC"} xref: PMID:7097594 {source="Europe PMC"} xref: PMID:7564279 {source="Europe PMC"} xref: PMID:7566693 {source="Europe PMC"} xref: PMID:7807214 {source="Europe PMC"} xref: PMID:7896575 {source="Europe PMC"} xref: PMID:8156919 {source="Europe PMC"} xref: PMID:8545712 {source="Europe PMC"} xref: PMID:8764340 {source="Europe PMC"} xref: PMID:9203638 {source="Europe PMC"} xref: PMID:9450943 {source="Europe PMC"} xref: PMID:9621392 {source="Europe PMC"} xref: Reaxys:82108 {source="Reaxys"} xref: SNOMEDCT:323283001 xref: SNOMEDCT:68540007 xref: UM-BBD_compID:c0468 {source="UM-BBD"} xref: Wikipedia:Nicotine is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:187431 name: Ipurolic acid namespace: chebi_ontology subset: 2_STAR synonym: "3,11-dihydroxytetradecanoic acid" EXACT IUPAC_NAME [SUBMITTER] xref: Chemspider:4446050 xref: LIPID_MAPS_instance:LMFA01050081 {source="LIPID MAPS"} is_a: CHEBI:35366 ! fatty acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C14H28O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C14H28O4/c1-2-8-12(15)9-6-4-3-5-7-10-13(16)11-14(17)18/h12-13,15-16H,2-11H2,1H3,(H,17,18)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "AVKYODWULTZQPQ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "260.374" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "260.19876" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(CCCCCCCC(O)CC(O)=O)CCC" xsd:string [Term] id: CHEBI:19062 name: 1-methylguanosine namespace: chebi_ontology def: "Guanosine substituted with a methyl group at position N-1." [] subset: 3_STAR synonym: "1-methylguanosine" EXACT IUPAC_NAME [IUPAC] synonym: "2-amino-9-[(2R,3R,4S,5R)-3,4-dihydroxy-5-(hydroxymethyl)tetrahydrofuran-2-yl]-1-methyl-1,9-dihydro-6H-purin-6-one" EXACT IUPAC_NAME [IUPAC] synonym: "m1g" RELATED [ChEBI] synonym: "N1-Methylguanosine" RELATED [ChemIDplus] xref: CAS:2140-65-0 {source="ChemIDplus"} xref: HMDB:HMDB0001563 xref: MetaCyc:CPD0-1043 xref: PMID:22770225 {source="Europe PMC"} xref: PMID:2471265 {source="Europe PMC"} xref: PMID:6477620 {source="Europe PMC"} xref: PMID:7592438 {source="Europe PMC"} xref: Reaxys:1226983 {source="Reaxys"} xref: Reaxys:570907 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C11H15N5O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C11H15N5O5/c1-15-9(20)5-8(14-11(15)12)16(3-13-5)10-7(19)6(18)4(2-17)21-10/h3-4,6-7,10,17-19H,2H2,1H3,(H2,12,14)/t4-,6-,7-,10-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UTAIYTHAJQNQDW-KQYNXXCUSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "297.26750" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "297.10732" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cn1c(N)nc2n(cnc2c1=O)[C@@H]1O[C@H](CO)[C@@H](O)[C@H]1O" xsd:string [Term] id: CHEBI:19065 name: 1-methylinosine namespace: chebi_ontology def: "Inosine carrying a methyl substituent at position 1 on the hypoxanthine ring." [] subset: 3_STAR synonym: "1-methylinosine" EXACT IUPAC_NAME [IUPAC] synonym: "9-[(2R,3R,4S,5R)-3,4-dihydroxy-5-(hydroxymethyl)tetrahydrofuran-2-yl]-1-methyl-1,9-dihydro-6H-purin-6-one" EXACT IUPAC_NAME [IUPAC] synonym: "m(1)i" RELATED [ChEBI] synonym: "N1-Methylinosine" RELATED [HMDB] xref: CAS:2140-73-0 {source="ChemIDplus"} xref: HMDB:HMDB0002721 xref: MetaCyc:CPD0-1042 xref: PMID:1262659 {source="Europe PMC"} xref: PMID:1873911 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: PMID:3132457 {source="Europe PMC"} xref: PMID:4720877 {source="Europe PMC"} xref: PMID:5765842 {source="Europe PMC"} xref: PMID:7183961 {source="Europe PMC"} xref: PMID:723886 {source="Europe PMC"} xref: PMID:7392649 {source="Europe PMC"} xref: PMID:7501451 {source="Europe PMC"} xref: PMID:908140 {source="Europe PMC"} xref: PMID:9376997 {source="Europe PMC"} xref: Reaxys:42831 {source="Reaxys"} xref: Wikipedia:1-Methylinosin is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C11H14N4O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C11H14N4O5/c1-14-3-13-9-6(10(14)19)12-4-15(9)11-8(18)7(17)5(2-16)20-11/h3-5,7-8,11,16-18H,2H2,1H3/t5-,7-,8-,11-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WJNGQIYEQLPJMN-IOSLPCCCSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "282.25270" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "282.09642" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cn1cnc2n(cnc2c1=O)[C@@H]1O[C@H](CO)[C@@H](O)[C@H]1O" xsd:string [Term] id: CHEBI:192093 name: tetradecadienylcarnitine namespace: chebi_ontology subset: 2_STAR is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C21H39NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "188.201" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "188.09228" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C([C@@H](CC([O-])=O)OC(=O)*)[N+](C)(C)C" xsd:string [Term] id: CHEBI:19289 name: N(2),N(2)-dimethylguanosine namespace: chebi_ontology def: "A guanosine where the hydrogens of the amine group at C-2 are substituted by methyl groups." [] subset: 3_STAR synonym: "2,2-dimethylguanosine" RELATED [ChEBI] synonym: "2-(dimethylamino)-9-(beta-D-ribofuranosyl)-1,9-dihydro-6H-purin-6-one" RELATED [IUPAC] synonym: "2-Dimethylamino-6-oxypurine riboside" RELATED [HMDB] synonym: "m22g" RELATED [ChEBI] synonym: "N(2),N(2)-Dimethylguanosine" EXACT [ChemIDplus] synonym: "N,N-dimethylguanosine" EXACT IUPAC_NAME [IUPAC] synonym: "N2-Dimethylguanosine" RELATED [HMDB] xref: Beilstein:47545 {source="Beilstein"} xref: CAS:2140-67-2 {source="ChemIDplus"} xref: HMDB:HMDB0004824 xref: PMID:22770225 {source="Europe PMC"} xref: Reaxys:47545 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12H17N5O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C12H17N5O5/c1-16(2)12-14-9-6(10(21)15-12)13-4-17(9)11-8(20)7(19)5(3-18)22-11/h4-5,7-8,11,18-20H,3H2,1-2H3,(H,14,15,21)/t5-,7-,8-,11-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RSPURTUNRHNVGF-IOSLPCCCSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "311.29408" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "311.12297" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN(C)c1nc2n(cnc2c(=O)[nH]1)[C@@H]1O[C@H](CO)[C@@H](O)[C@H]1O" xsd:string [Term] id: CHEBI:1941 name: 4-(trimethylammonio)butanoic acid namespace: chebi_ontology def: "A quaternary ammonium ion that is the conjugate acid of 4-(trimethylammonio)butanoate." [] subset: 3_STAR synonym: "3-carboxy-N,N,N-trimethylpropan-1-aminium" EXACT IUPAC_NAME [IUPAC] synonym: "4-Trimethylammoniobutanoate" RELATED [KEGG_COMPOUND] synonym: "Butyrobetaine" RELATED [HMDB] synonym: "gamma-Butyrobetaine" RELATED [HMDB] synonym: "gamma-butyrobetaine" RELATED [ChEBI] xref: Beilstein:1765273 {source="Beilstein"} xref: HMDB:HMDB0001161 xref: KEGG:C01181 xref: PDBeChem:NM2 xref: Reaxys:1765273 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "+1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H16NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H15NO2/c1-8(2,3)6-4-5-7(9)10/h4-6H2,1-3H3/p+1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JHPNVNIEXXLNTR-UHFFFAOYSA-O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "146.20748" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "146.11756" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[N+](C)(C)CCCC(O)=O" xsd:string [Term] id: CHEBI:19641 name: 2-hydroxyisobutyrate namespace: chebi_ontology def: "A hydroxy fatty acid anion that is the conjugate base of 2-hydroxyisobutyric acid, arising from deprotonation of the carboxy group; major species at pH 7.3." [] subset: 3_STAR synonym: "2-hydroxy-2-methylpropanoate" EXACT IUPAC_NAME [IUPAC] synonym: "2-hydroxy-2-methylpropanoate" RELATED [UniProt] synonym: "alpha-hydroxy-alpha-methylpropanoate" RELATED [ChEBI] synonym: "alpha-hydroxy-alpha-methylpropionate" RELATED [ChEBI] synonym: "alpha-hydroxyisobutanoate" RELATED [ChEBI] synonym: "alpha-hydroxyisobutyrate" RELATED [ChEBI] xref: Reaxys:3903948 {source="Reaxys"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H7O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H8O3/c1-4(2,7)3(5)6/h7H,1-2H3,(H,5,6)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BWLBGMIXKSTLSX-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "103.09660" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "103.04007" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)(O)C([O-])=O" xsd:string [Term] id: CHEBI:20000 name: 3-dehydroteasterone namespace: chebi_ontology subset: 3_STAR synonym: "(22R,23R)-22,23-dihydroxy-5alpha-campestane-3,6-dione" EXACT IUPAC_NAME [IUPAC] synonym: "(22R,23R,24S)-22,23-dihydroxy-5alpha-ergostane-3,6-dione" RELATED [IUPAC] synonym: "3,6-dioxo-Campestan-22R,23R-diol" RELATED [LIPID_MAPS] synonym: "3-dehydroteasterone" EXACT [UniProt] xref: Beilstein:3630917 {source="Beilstein"} xref: KEGG:C15792 xref: KNApSAcK:C00007262 xref: LIPID_MAPS_instance:LMST01030131 {source="LIPID MAPS"} is_a: CHEBI:35341 ! steroid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C28H46O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C28H46O4/c1-15(2)16(3)25(31)26(32)17(4)20-7-8-21-19-14-24(30)23-13-18(29)9-11-28(23,6)22(19)10-12-27(20,21)5/h15-17,19-23,25-26,31-32H,7-14H2,1-6H3/t16-,17-,19-,20+,21-,22-,23+,25+,26+,27+,28+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SVBMASFUJDIDJC-XFJIFGBKSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "446.66244" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "446.33961" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]1(CC[C@@]2([H])[C@]3([H])CC(=O)[C@@]4([H])CC(=O)CC[C@]4(C)[C@@]3([H])CC[C@]12C)[C@H](C)[C@@H](O)[C@H](O)[C@@H](C)C(C)C" xsd:string [Term] id: CHEBI:20067 name: 3-hydroxybutyric acid namespace: chebi_ontology def: "A straight-chain 3-hydroxy monocarboxylic acid comprising a butyric acid core with a single hydroxy substituent in the 3- position; a ketone body whose levels are raised during ketosis, used as an energy source by the brain during fasting in humans. Also used to synthesise biodegradable plastics." [] subset: 3_STAR synonym: "(1)-3-Hydroxybutyric acid" RELATED [ChemIDplus] synonym: "3 HBA" RELATED [ChemIDplus] synonym: "3-hydroxybutanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "3-Hydroxybuttersaeure" RELATED [ChemIDplus] synonym: "3-OH-butyric acid" RELATED [ChEBI] synonym: "beta-Hydroxy-n-butyric acid" RELATED [HMDB] synonym: "beta-hydroxy-n-butyric acid" RELATED [ChemIDplus] synonym: "beta-hydroxybutanoic acid" RELATED [ChEBI] synonym: "beta-Hydroxybuttersaeure" RELATED [ChemIDplus] synonym: "beta-hydroxybutyric acid" RELATED [ChemIDplus] synonym: "BHBA" RELATED [ChEBI] synonym: "DL-beta-Hydroxybutyric acid" RELATED [ChemIDplus] xref: Beilstein:773861 {source="Beilstein"} xref: CAS:300-85-6 {source="ChemIDplus"} xref: HMDB:HMDB0000357 xref: LIPID_MAPS_instance:LMFA01050005 {source="LIPID MAPS"} xref: PMID:10855969 {source="Europe PMC"} xref: PMID:17190852 {source="Europe PMC"} xref: PMID:17579249 {source="Europe PMC"} xref: PMID:6061736 {source="Europe PMC"} xref: Reaxys:773861 {source="Reaxys"} xref: Wikipedia:3-hydroxybutyrate is_a: CHEBI:35366 ! fatty acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H8O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H8O3/c1-3(5)2-4(6)7/h3,5H,2H2,1H3,(H,6,7)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WHBMMWSBFZVSSR-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "104.10452" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "104.04734" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(O)CC(O)=O" xsd:string [Term] id: CHEBI:20070 name: 3-hydroxyhexanoate namespace: chebi_ontology subset: 3_STAR is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H11O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H12O3/c1-2-3-5(7)4-6(8)9/h5,7H,2-4H2,1H3,(H,8,9)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HPMGFDVTYHWBAG-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "131.14974" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "131.07137" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCC(O)CC([O-])=O" xsd:string [Term] id: CHEBI:2038 name: 5-azacytidine namespace: chebi_ontology def: "An N-glycosyl-1,3,5-triazine that is 4-amino-1,3,5-triazin-2(1H)-one substituted by a beta-D-ribofuranosyl residue via an N-glycosidic linkage. An antineoplastic agent, it is used in the treatment of myeloid leukaemia." [] subset: 3_STAR synonym: "4-amino-1-beta-D-ribofuranosyl-1,3,5-triazin-2(1H)-one" EXACT IUPAC_NAME [IUPAC] synonym: "4-Amino-1-beta-D-ribofuranosyl-s-triazin-2(1H)-one" RELATED [ChemIDplus] synonym: "5-Azacytidine" EXACT [KEGG_COMPOUND] synonym: "5-azacytidine" EXACT IUPAC_NAME [IUPAC] synonym: "azacitidina" RELATED INN [ChemIDplus] synonym: "Azacitidine" RELATED [KEGG_COMPOUND] synonym: "azacitidinum" RELATED INN [ChemIDplus] xref: CAS:320-67-2 {source="ChemIDplus"} xref: CAS:320-67-2 {source="KEGG COMPOUND"} xref: Drug_Central:25 {source="DrugCentral"} xref: DrugBank:DB00928 xref: HMDB:HMDB0015063 xref: KEGG:C11262 xref: KEGG:D03021 xref: LINCS:LSM-5218 xref: MeSH:D001374 xref: NCIt:C288 xref: Patent:KR20140069225 xref: Patent:US2015038444 xref: PMID:11841042 {source="Europe PMC"} xref: PMID:15962522 {source="Europe PMC"} xref: PMID:17611569 {source="Europe PMC"} xref: PMID:28131982 {source="Europe PMC"} xref: PMID:28415666 {source="Europe PMC"} xref: PMID:28486212 {source="Europe PMC"} xref: PMID:29438107 {source="Europe PMC"} xref: Reaxys:620461 {source="Reaxys"} xref: SNOMEDCT:88551000 xref: Wikipedia:Azacitidine is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H12N4O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H12N4O5/c9-7-10-2-12(8(16)11-7)6-5(15)4(14)3(1-13)17-6/h2-6,13-15H,1H2,(H2,9,11,16)/t3-,4-,5-,6-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NMUSYJAQQFHJEW-KVTDHHQDSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "244.20484" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "244.08077" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Nc1ncn([C@@H]2O[C@H](CO)[C@@H](O)[C@H]2O)c(=O)n1" xsd:string [Term] id: CHEBI:20612 name: 5-methyltetrahydrofolate namespace: chebi_ontology def: "A group of heterocyclic compounds based on the 5-methyl-5,6,7,8-tetrahydropteroic acid skeleton conjugated with one or more L-glutamic acid or L-glutamate units." [] subset: 3_STAR synonym: "5-methyltetrahydrofolates" RELATED [ChEBI] is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:20710 name: 3-dehydro-6-deoxoteasterone namespace: chebi_ontology def: "6-Deoxoteasterone in which the hydroxy group at position 3 has been oxidised to the corresponding ketone." [] subset: 3_STAR synonym: "(22R,23R)-22,23-dihydroxy-5alpha-campestan-3-one" EXACT IUPAC_NAME [IUPAC] synonym: "(22R,23R,24S)-22,23-dihydroxy-5alpha-ergostan-3-one" RELATED [IUPAC] synonym: "(5alpha,22R,23R,24S)-22,23-dihydroxyergostan-3-one" RELATED [ChEBI] synonym: "3-dehydro-6-deoxoteasterone" EXACT [UniProt] synonym: "3-oxo-campestan-22R,23R-diol" RELATED [LIPID_MAPS] xref: Beilstein:7387822 {source="Beilstein"} xref: KEGG:C15800 xref: KNApSAcK:C00007274 xref: LIPID_MAPS_instance:LMST01030125 {source="LIPID MAPS"} xref: PMID:17138693 {source="Europe PMC"} is_a: CHEBI:35341 ! steroid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C28H48O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C28H48O3/c1-16(2)17(3)25(30)26(31)18(4)22-9-10-23-21-8-7-19-15-20(29)11-13-27(19,5)24(21)12-14-28(22,23)6/h16-19,21-26,30-31H,7-15H2,1-6H3/t17-,18-,19-,21-,22+,23-,24-,25+,26+,27-,28+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "URNVSZVQLKHKDE-WAFXAADMSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "432.67892" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "432.36035" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12CC[C@]3([H])[C@]([H])(CC[C@]4(C)[C@]([H])(CC[C@@]34[H])[C@H](C)[C@@H](O)[C@H](O)[C@@H](C)C(C)C)[C@@]1(C)CCC(=O)C2" xsd:string [Term] id: CHEBI:20712 name: 6-deoxocastasterone namespace: chebi_ontology def: "A 3alpha-hydroxy steroid that is castasterone which is lacking the oxo substituent at position 6." [] subset: 3_STAR synonym: "(22R,23R)-5alpha-campestane-2alpha,3alpha,22,23-tetraol" EXACT IUPAC_NAME [IUPAC] synonym: "6-deoxocastasterone" EXACT [UniProt] xref: Beilstein:5097016 {source="Beilstein"} xref: KEGG:C15802 xref: KNApSAcK:C00000199 xref: LIPID_MAPS_instance:LMST01030127 {source="LIPID MAPS"} xref: MetaCyc:CPD-723 xref: PMID:14502988 {source="Europe PMC"} xref: PMID:9927639 {source="Europe PMC"} xref: Reaxys:5097016 {source="Reaxys"} is_a: CHEBI:35341 ! steroid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C28H50O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C28H50O4/c1-15(2)16(3)25(31)26(32)17(4)20-9-10-21-19-8-7-18-13-23(29)24(30)14-28(18,6)22(19)11-12-27(20,21)5/h15-26,29-32H,7-14H2,1-6H3/t16-,17-,18-,19-,20+,21-,22-,23-,24+,25+,26+,27+,28-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VXBLCLVRWCLEOX-BFYSZXNBSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "450.69420" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "450.37091" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12CC[C@@]3([H])[C@]4([H])CC[C@]([H])([C@H](C)[C@@H](O)[C@H](O)[C@@H](C)C(C)C)[C@@]4(C)CC[C@]3([H])[C@@]1(C)C[C@@H](O)[C@@H](O)C2" xsd:string [Term] id: CHEBI:20714 name: 6-deoxycathasterone namespace: chebi_ontology def: "A 3beta-hydroxy steroid that is cathasterone which is lacking the oxo substituent at position 6." [] subset: 3_STAR synonym: "(22S)-5alpha-campestane-3beta,22-diol" EXACT IUPAC_NAME [IUPAC] synonym: "6-Deoxocathasterone" RELATED [LIPID_MAPS] synonym: "6-deoxycathasterone" EXACT [UniProt] xref: Beilstein:7878139 {source="Beilstein"} xref: KEGG:C15798 xref: KNApSAcK:C00007277 xref: LIPID_MAPS_instance:LMST01030124 {source="LIPID MAPS"} xref: MetaCyc:CPD-712 xref: Reaxys:7878139 {source="Reaxys"} is_a: CHEBI:35341 ! steroid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C28H50O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C28H50O2/c1-17(2)18(3)15-26(30)19(4)23-9-10-24-22-8-7-20-16-21(29)11-13-27(20,5)25(22)12-14-28(23,24)6/h17-26,29-30H,7-16H2,1-6H3/t18-,19+,20+,21+,22+,23-,24+,25+,26+,27+,28-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ZHZKWZJLUNXOSN-YUZBOUAZSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "418.69540" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "418.38108" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12CC[C@@]3([H])[C@]4([H])CC[C@]([H])([C@H](C)[C@@H](O)C[C@@H](C)C(C)C)[C@@]4(C)CC[C@]3([H])[C@@]1(C)CC[C@H](O)C2" xsd:string [Term] id: CHEBI:20717 name: 6-deoxotyphasterol namespace: chebi_ontology def: "Typhasterol in which the oxygen atom of the keto group has been substituted by two hydrogen atoms. A member of a biosynthetic pathway to castasterone, it has been isolated from the primary roots of maize." [] subset: 3_STAR synonym: "(22R,23R,24S)-5alpha-ergostane-3alpha,22,23-triol" EXACT IUPAC_NAME [IUPAC] synonym: "(3alpha,5alpha,22R,23R,24S)-ergostane-3,22,23-triol" RELATED [ChEBI] synonym: "6-Deoxotyphasterol" EXACT [KEGG_COMPOUND] synonym: "6-deoxotyphasterol" EXACT [UniProt] xref: Beilstein:7382071 {source="Beilstein"} xref: KEGG:C15801 xref: KNApSAcK:C00007278 xref: PMID:15896368 {source="Europe PMC"} xref: PMID:17138693 {source="Europe PMC"} is_a: CHEBI:15889 ! sterol property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C28H50O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C28H50O3/c1-16(2)17(3)25(30)26(31)18(4)22-9-10-23-21-8-7-19-15-20(29)11-13-27(19,5)24(21)12-14-28(22,23)6/h16-26,29-31H,7-15H2,1-6H3/t17-,18-,19-,20+,21-,22+,23-,24-,25+,26+,27-,28+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WPHVOXMMNSLJSF-DAWJDVIISA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "434.69480" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "434.37600" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12CC[C@]3([H])[C@]([H])(CC[C@]4(C)[C@]([H])(CC[C@@]34[H])[C@H](C)[C@@H](O)[C@H](O)[C@@H](C)C(C)C)[C@@]1(C)CC[C@@H](O)C2" xsd:string [Term] id: CHEBI:21264 name: L-cysteine glutathione disulfide namespace: chebi_ontology def: "An organic disulfide that is the L-cysteinyl derivative of glutathione." [] subset: 3_STAR synonym: "S-Glutathionyl-L-cysteine" RELATED [KEGG_COMPOUND] xref: HMDB:HMDB0000656 xref: KEGG:C05526 xref: PMID:6130452 {source="Europe PMC"} xref: PMID:6869067 {source="Europe PMC"} xref: Reaxys:2491977 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C13H22N4O8S2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C13H22N4O8S2/c14-6(12(22)23)1-2-9(18)17-8(11(21)16-3-10(19)20)5-27-26-4-7(15)13(24)25/h6-8H,1-5,14-15H2,(H,16,21)(H,17,18)(H,19,20)(H,22,23)(H,24,25)/t6-,7-,8-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BNRXZEPOHPEEAS-FXQIFTODSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "426.46600" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "426.08791" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "N[C@@H](CCC(=O)N[C@@H](CSSC[C@H](N)C(O)=O)C(=O)NCC(O)=O)C(O)=O" xsd:string [Term] id: CHEBI:21363 name: L-methionine sulfone namespace: chebi_ontology alt_id: CHEBI:44524 def: "An L-methionine derivative in which the sulfur has been oxidised to the corresponding sulfone." [] subset: 3_STAR synonym: "(2S)-2-amino-4-(methylsulfonyl)butanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "(S)-Amino-4-(methylsulphonyl)butyric acid" RELATED [ChemIDplus] synonym: "L-2-amino-4-(methylsulfonyl)butanoic acid" RELATED [ChEBI] synonym: "L-methionine sulfone" EXACT [ChEBI] synonym: "methionine sulfone" RELATED [ChEBI] synonym: "S-DIOXYMETHIONINE" RELATED [PDBeChem] xref: CAS:7314-32-1 {source="ChemIDplus"} xref: MetaCyc:CPD-3739 xref: PDBeChem:OMT xref: PMID:18071251 {source="Europe PMC"} xref: PMID:20944408 {source="Europe PMC"} xref: PMID:939991 {source="Europe PMC"} xref: Reaxys:1725510 {source="Reaxys"} is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H11NO4S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H11NO4S/c1-11(9,10)3-2-4(6)5(7)8/h4H,2-3,6H2,1H3,(H,7,8)/t4-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UCUNFLYVYCGDHP-BYPYZUCNSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "181.210" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "181.04088" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(=O)([C@@H](N)CCS(C)(=O)=O)O" xsd:string [Term] id: CHEBI:21547 name: N-acetyl-L-aspartic acid namespace: chebi_ontology def: "An N-acyl-L-aspartic acid in which the acyl group is specified as acetyl." [] subset: 3_STAR synonym: "(2S)-2-acetamidobutanedioic acid" EXACT IUPAC_NAME [IUPAC] synonym: "(S)-2-(acetylamino)butanedioic acid" RELATED [ChEBI] synonym: "(S)-2-(acetylamino)succinic acid" RELATED [HMDB] synonym: "acetyl-L-aspartic acid" RELATED [HMDB] synonym: "acetylaspartic acid" RELATED [ChemIDplus] synonym: "L-N-acetylaspartic acid" RELATED [HMDB] synonym: "N-acetylaspartic acid" RELATED [ChemIDplus] synonym: "NAA" RELATED [HMDB] xref: Beilstein:1726198 {source="ChemIDplus"} xref: CAS:997-55-7 {source="ChemIDplus"} xref: CAS:997-55-7 {source="NIST Chemistry WebBook"} xref: HMDB:HMDB0000812 xref: KEGG:C01042 xref: MetaCyc:CPD-420 xref: PMID:1400776 {source="Europe PMC"} xref: PMID:1583881 {source="Europe PMC"} xref: PMID:17190852 {source="Europe PMC"} xref: PMID:17703473 {source="Europe PMC"} xref: PMID:19445994 {source="Europe PMC"} xref: PMID:19816853 {source="Europe PMC"} xref: PMID:20362635 {source="Europe PMC"} xref: PMID:20946933 {source="Europe PMC"} xref: PMID:21547934 {source="Europe PMC"} xref: PMID:21608034 {source="Europe PMC"} xref: PMID:21920405 {source="Europe PMC"} xref: PMID:22284151 {source="Europe PMC"} xref: PMID:2272391 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: PMID:2324740 {source="Europe PMC"} xref: PMID:6131106 {source="Europe PMC"} xref: Reaxys:1726198 {source="Reaxys"} xref: Wikipedia:N-acetylaspartic_acid is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H9NO5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H9NO5/c1-3(8)7-4(6(11)12)2-5(9)10/h4H,2H2,1H3,(H,7,8)(H,9,10)(H,11,12)/t4-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OTCCIMWXFLJLIA-BYPYZUCNSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "175.13940" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "175.04807" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(=O)N[C@@H](CC(O)=O)C(O)=O" xsd:string [Term] id: CHEBI:21549 name: N-acetyl-L-glutamate(1-) namespace: chebi_ontology def: "An N-acyl-L-alpha-amino acid anion resulting from deprotonation of both carboxy groups and protonation of the amide nitrogen of N-acetyl-L-glutamic acid." [] subset: 3_STAR synonym: "(2S)-2-(acetylammonio)pentanedioate" EXACT IUPAC_NAME [IUPAC] is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H10NO5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H11NO5/c1-4(9)8-5(7(12)13)2-3-6(10)11/h5H,2-3H2,1H3,(H,8,9)(H,10,11)(H,12,13)/p-1/t5-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RFMMMVDNIPUKGG-YFKPBYRVSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "188.160" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "188.05645" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(C([O-])=O)C[C@@H](C([O-])=O)[NH2+]C(=O)C" xsd:string [Term] id: CHEBI:21557 name: N-acetyl-L-methionine namespace: chebi_ontology alt_id: CHEBI:40767 def: "An L-methionine derivative that is L-methionine in which one of the amine hydrogens is substituted by an acetyl group." [] subset: 3_STAR synonym: "(2S)-2-acetamido-4-(methylsulfanyl)butanoic acid" RELATED [IUPAC] synonym: "Acetyl-L-methionine" RELATED [ChemIDplus] synonym: "Acetylmethionine" RELATED [NIST_Chemistry_WebBook] synonym: "AcMet" RELATED [ChEBI] synonym: "L-(N-Acetyl)methionine" RELATED [ChemIDplus] synonym: "Methionamine" RELATED [ChemIDplus] synonym: "N-Ac-Met" RELATED [ChEBI] synonym: "N-acetyl-L-methionine" EXACT IUPAC_NAME [IUPAC] synonym: "N-Acetylmethionine" RELATED [KEGG_COMPOUND] synonym: "Nalpha-acetyl-L-methionine" RELATED [ChEBI] xref: Beilstein:1725552 {source="ChemIDplus"} xref: CAS:65-82-7 {source="NIST Chemistry WebBook"} xref: CAS:65-82-7 {source="ChemIDplus"} xref: CAS:65-82-7 {source="KEGG COMPOUND"} xref: DrugBank:DB01646 xref: HMDB:HMDB0011745 xref: KEGG:C02712 xref: MetaCyc:CPD0-2015 xref: PDBeChem:AME xref: PMID:16091934 {source="Europe PMC"} xref: PMID:16129491 {source="Europe PMC"} xref: PMID:21246718 {source="Europe PMC"} xref: PMID:21796695 {source="Europe PMC"} xref: PMID:24769178 {source="Europe PMC"} xref: PMID:448454 {source="Europe PMC"} xref: PMID:7069504 {source="Europe PMC"} xref: PMID:7354384 {source="Europe PMC"} xref: PMID:845673 {source="Europe PMC"} xref: PMID:986424 {source="Europe PMC"} xref: Reaxys:1725552 {source="Reaxys"} xref: Reaxys:4744969 {source="Reaxys"} is_a: EFO:0004416 ! acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H13NO3S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H13NO3S/c1-5(9)8-6(7(10)11)3-4-12-2/h6H,3-4H2,1-2H3,(H,8,9)(H,10,11)/t6-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XUYPXLNMDZIRQH-LURJTMIESA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "191.250" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "191.06161" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CSCC[C@H](NC(C)=O)C(O)=O" xsd:string [Term] id: CHEBI:21565 name: N-acetyl-L-valine namespace: chebi_ontology def: "An L-valine derivative in which one of the amino hydrogens of L-valine has been replaced by an acetyl group." [] subset: 3_STAR synonym: "(2S)-2-acetamido-3-methylbutanoic acid" RELATED [IUPAC] synonym: "N-acetyl-L-valine" EXACT IUPAC_NAME [IUPAC] synonym: "N-Acetylvaline" RELATED [ChemIDplus] xref: CAS:96-81-1 {source="NIST Chemistry WebBook"} xref: CAS:96-81-1 {source="ChemIDplus"} xref: Reaxys:1723837 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H13NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H13NO3/c1-4(2)6(7(10)11)8-5(3)9/h4,6H,1-3H3,(H,8,9)(H,10,11)/t6-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IHYJTAOFMMMOPX-LURJTMIESA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "159.183" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "159.08954" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O=C(O)[C@@H](NC(=O)C)C(C)C" xsd:string [Term] id: CHEBI:21626 name: N-acetylphenylalanine namespace: chebi_ontology def: "The N-acetyl derivative of phenylalanine." [] subset: 3_STAR synonym: "2-(acetylamino)-3-phenylpropanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "afalanina" RELATED INN [ChemIDplus] synonym: "afalanine" RELATED INN [ChemIDplus] synonym: "afalaninum" RELATED INN [ChemIDplus] synonym: "N-Acetyl-3-phenyl-DL-alanine" RELATED [ChemIDplus] synonym: "N-acetylphenylalanine" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:2213851 {source="Beilstein"} xref: CAS:2901-75-9 {source="ChemIDplus"} xref: Reaxys:2213851 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C11H13NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C11H13NO3/c1-8(13)12-10(11(14)15)7-9-5-3-2-4-6-9/h2-6,10H,7H2,1H3,(H,12,13)(H,14,15)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CBQJSKKFNMDLON-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "207.22586" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "207.08954" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(=O)NC(Cc1ccccc1)C(O)=O" xsd:string [Term] id: CHEBI:21759 name: N-methyl-N'-nitro-N-nitrosoguanidine namespace: chebi_ontology alt_id: CHEBI:34872 def: "An N-nitroguanidine compound having nitroso and methyl substituents at the N'-position" [] subset: 3_STAR synonym: "1-Methyl-1-nitroso-3-nitroguanidine" RELATED [ChemIDplus] synonym: "1-Methyl-3-nitro-1-nitrosoguanidine" RELATED [KEGG_COMPOUND] synonym: "1-methyl-3-nitro-1-nitrosoguanidine" EXACT IUPAC_NAME [IUPAC] synonym: "1-Nitroso-3-nitro-1-methylguanidine" RELATED [ChemIDplus] synonym: "Methylnitronitrosoguanidine" RELATED [KEGG_COMPOUND] synonym: "MNG" RELATED [ChemIDplus] synonym: "MNNG" RELATED [KEGG_COMPOUND] synonym: "MNNG" RELATED [ChemIDplus] synonym: "N'-Nitro-N-nitroso-N-methylguanidine" RELATED [ChemIDplus] synonym: "N-Methyl-N',2-dioxohydrazinecarboximidohydrazide 2-oxide" RELATED [NIST_Chemistry_WebBook] synonym: "N-Methyl-N'-nitro-N-nitrosoguanidine" EXACT [KEGG_COMPOUND] synonym: "N-Methyl-N-nitroso-N'-nitroguanidine" RELATED [ChEBI] synonym: "N-Methyl-N-nitroso-N'-nitroguanidine" RELATED [ChemIDplus] synonym: "N-Methyl-N-nitrosonitroguanidin" RELATED [ChEBI] synonym: "N-Nitroso-N-methyl-N'-nitroguanidine" RELATED [ChemIDplus] xref: Beilstein:1779490 {source="Beilstein"} xref: CAS:70-25-7 {source="NIST Chemistry WebBook"} xref: CAS:70-25-7 {source="KEGG COMPOUND"} xref: CAS:70-25-7 {source="ChemIDplus"} xref: KEGG:C14592 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C2H5N5O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C2H5N5O3/c1-6(5-8)2(3)4-7(9)10/h1H3,(H2,3,4)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VZUNGTLZRAYYDE-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "147.09280" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "147.03924" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN(N=O)C(=N)N[N+]([O-])=O" xsd:string [Term] id: CHEBI:21803 name: 1-methylguanine namespace: chebi_ontology subset: 3_STAR synonym: "2-amino-1-methyl-1,9-dihydro-6H-purin-6-one" EXACT IUPAC_NAME [IUPAC] synonym: "N1-methylguanine" RELATED [ChemIDplus] xref: CAS:938-85-2 {source="ChemIDplus"} is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H7N5O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H7N5O/c1-11-5(12)3-4(9-2-8-3)10-6(11)7/h2H,1H3,(H2,7,10)(H,8,9)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RFLVMTUMFYRZCB-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "165.15288" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "165.06506" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cn1c(N)nc2[nH]cnc2c1=O" xsd:string [Term] id: CHEBI:22152 name: 2-cis-abscisic acid namespace: chebi_ontology def: "A member of the class of abscisic acids in which the double bond betweeen positions 2 and 3 has cis- (natural) geometry." [] subset: 3_STAR synonym: "(2Z,4E)-5-(1-hydroxy-2,6,6-trimethyl-4-oxocyclohex-2-en-1-yl)-3-methylpenta-2,4-dienoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "abscisic acid" RELATED [ChEBI] synonym: "Abscisinsaeure" RELATED [ChEBI] synonym: "Abszisinsaeure" RELATED [ChEBI] synonym: "acide abscissique" RELATED [ChEBI] synonym: "acido abscisico" RELATED [ChEBI] xref: Beilstein:2698956 {source="Beilstein"} xref: MeSH:D000040 xref: SNOMEDCT:44344002 is_a: CHEBI:24913 ! isoprenoid is_a: EFO:0004416 ! acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C15H20O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C15H20O4/c1-10(7-13(17)18)5-6-15(19)11(2)8-12(16)9-14(15,3)4/h5-8,19H,9H2,1-4H3,(H,17,18)/b6-5+,10-7-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JLIDBLDQVAYHNE-LXGGSRJLSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "264.31690" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "264.13616" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(\\C=C\\C1(O)C(C)=CC(=O)CC1(C)C)=C\\C(O)=O" xsd:string [Term] id: CHEBI:22210 name: aconitate(3-) namespace: chebi_ontology def: "A tricarboxylic acid trianion that is the conjugate base of aconitic acid." [] subset: 3_STAR synonym: "prop-1-ene-1,2,3-tricarboxylate" EXACT IUPAC_NAME [IUPAC] xref: Gmelin:364851 {source="Gmelin"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H3O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H6O6/c7-4(8)1-3(6(11)12)2-5(9)10/h1H,2H2,(H,7,8)(H,9,10)(H,11,12)/p-3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GTZCVFVGUGFEME-UHFFFAOYSA-K" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "171.08442" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "170.99461" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-]C(=O)CC(=CC([O-])=O)C([O-])=O" xsd:string [Term] id: CHEBI:22211 name: aconitic acid namespace: chebi_ontology def: "A tricarboxylic acid that is prop-1-ene substituted by carboxy groups at positions 1, 2 and 3." [] subset: 3_STAR synonym: "1-propene-1,2,3-tricarboxylic acid" RELATED [ChemIDplus] synonym: "3-carboxy-2-pentenedioic acid" RELATED [ChemIDplus] synonym: "achilleic acid" RELATED [ChemIDplus] synonym: "citridic acid" RELATED [ChemIDplus] synonym: "equisetic acid" RELATED [ChemIDplus] synonym: "prop-1-ene-1,2,3-tricarboxylic acid" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:1725828 {source="Beilstein"} xref: CAS:499-12-7 {source="ChemIDplus"} xref: Gmelin:185280 {source="Gmelin"} xref: PMID:24702026 {source="Europe PMC"} xref: PMID:24710945 {source="Europe PMC"} xref: PMID:25011271 {source="Europe PMC"} xref: Reaxys:1725828 {source="Reaxys"} xref: Wikipedia:Aconitic_acid is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H6O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H6O6/c7-4(8)1-3(6(11)12)2-5(9)10/h1H,2H2,(H,7,8)(H,9,10)(H,11,12)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GTZCVFVGUGFEME-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "174.10824" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "174.01644" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)CC(=CC(O)=O)C(O)=O" xsd:string [Term] id: CHEBI:22333 name: alkylating agent namespace: chebi_ontology def: "Highly reactive chemical that introduces alkyl radicals into biologically active molecules and thereby prevents their proper functioning. It could be used as an antineoplastic agent, but it might be very toxic, with carcinogenic, mutagenic, teratogenic, and immunosuppressant actions. It could also be used as a component of poison gases." [] subset: 3_STAR is_a: CHEBI:25435 ! mutagen relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:22470 name: alpha-tocopherol namespace: chebi_ontology def: "A tocopherol that is chroman-6-ol substituted by methyl groups at positions 2, 5, 7 and 8 and a 4,8,12-trimethyltridecyl group at position 2." [] subset: 3_STAR synonym: "(+-)-alpha-tocopherol" RELATED [ChEBI] synonym: "(+-)-alpha-tocopherol" RELATED [ChemIDplus] synonym: "2,5,7,8-tetramethyl-2-(4',8',12'-trimethyltridecyl)-6-chromanol" RELATED [ChemIDplus] synonym: "all-rac-alpha-tocopherol" RELATED [ChEBI] synonym: "dl-alpha-tocopherol" RELATED [ChemIDplus] synonym: "E 307" RELATED [ChEBI] synonym: "E-307" RELATED [ChEBI] synonym: "E307" RELATED [ChEBI] synonym: "rel-(2R)-2,5,7,8-tetramethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-3,4-dihydro-2H-chromen-6-ol" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:8176170 {source="Beilstein"} xref: CAS:10191-41-0 {source="ChemIDplus"} xref: KEGG:D02332 xref: MeSH:D024502 xref: NCIt:C74960 xref: PMID:23949732 {source="Europe PMC"} xref: PMID:24683365 {source="Europe PMC"} xref: SNOMEDCT:259666007 xref: Wikipedia:Alpha-Tocopherol is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:33229 ! vitamin (role) property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C29H50O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "430.707" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "430.38108" xsd:string [Term] id: CHEBI:22586 name: antioxidant namespace: chebi_ontology def: "A substance that opposes oxidation or inhibits reactions brought about by dioxygen or peroxides." [] subset: 3_STAR synonym: "antioxidants" RELATED [ChEBI] synonym: "antioxydant" RELATED [ChEBI] synonym: "antoxidant" RELATED [ChEBI] xref: MeSH:D000975 xref: NCIt:C275 is_a: CHEBI:51086 ! chemical role relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:22587 name: antiviral agent namespace: chebi_ontology def: "A substance that destroys or inhibits replication of viruses." [] subset: 3_STAR synonym: "anti-viral agent" RELATED [ChEBI] synonym: "anti-viral agents" RELATED [ChEBI] synonym: "antiviral" RELATED [ChEBI] synonym: "antiviral agents" RELATED [ChEBI] synonym: "antivirals" RELATED [ChEBI] is_a: CHEBI:33281 ! antimicrobial agent is_a: EFO:0001899 ! drug role [Term] id: CHEBI:22595 name: arabinonate namespace: chebi_ontology subset: 3_STAR is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:22605 name: arabinitol namespace: chebi_ontology def: "A pentitol that is the sugar alcohol produced by the reduction of arabinose or lyxose. It is found in serum or urine of human infected with Candida albicans." [] subset: 3_STAR synonym: "arabitol" RELATED [ChEBI] xref: PMID:13525419 {source="Europe PMC"} xref: PMID:16435225 {source="Europe PMC"} xref: PMID:8204415 {source="Europe PMC"} xref: Wikipedia:Arabitol is_a: CHEBI:16646 ! carbohydrate property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H12O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "152.146" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "152.06847" xsd:string [Term] id: CHEBI:22653 name: asparagine namespace: chebi_ontology def: "An alpha-amino acid in which one of the hydrogens attached to the alpha-carbon of glycine is substituted by a 2-amino-2-oxoethyl group." [] subset: 3_STAR synonym: "2,4-diamino-4-oxobutanoic acid" RELATED [IUPAC] synonym: "2-amino-3-carbamoylpropanoic acid" RELATED [JCBN] synonym: "ASN" RELATED [ChEBI] synonym: "Asn" RELATED [ChEBI] synonym: "Asparagin" RELATED [ChEBI] synonym: "asparagina" RELATED [ChEBI] synonym: "asparagine" EXACT IUPAC_NAME [IUPAC] synonym: "DL-Asparagine" RELATED [KEGG_COMPOUND] synonym: "Hasp" RELATED [IUPAC] synonym: "N" RELATED [ChEBI] xref: Beilstein:1723525 {source="Beilstein"} xref: CAS:3130-87-8 {source="ChemIDplus"} xref: Gmelin:279043 {source="Gmelin"} xref: KEGG:C16438 xref: PMID:22264337 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: Reaxys:1723525 {source="Reaxys"} xref: Wikipedia:Asparagine is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H8N2O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H8N2O3/c5-2(4(8)9)1-3(6)7/h2H,1,5H2,(H2,6,7)(H,8,9)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DCXYFEDJOCDNAF-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "132.11800" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "132.05349" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NC(CC(N)=O)C(O)=O" xsd:string [Term] id: CHEBI:22660 name: aspartic acid namespace: chebi_ontology def: "An alpha-amino acid that consists of succinic acid bearing a single alpha-amino substituent" [] subset: 3_STAR synonym: "(+-)-Aspartic acid" RELATED [ChemIDplus] synonym: "(R,S)-Aspartic acid" RELATED [ChemIDplus] synonym: "2-aminobutanedioic acid" RELATED [IUPAC] synonym: "Asp" RELATED [ChEBI] synonym: "Aspartic acid" EXACT [KEGG_COMPOUND] synonym: "aspartic acid" EXACT IUPAC_NAME [IUPAC] synonym: "D" RELATED [ChEBI] synonym: "DL-Aminosuccinic acid" RELATED [ChemIDplus] synonym: "DL-Asparagic acid" RELATED [ChemIDplus] xref: Beilstein:774618 {source="Beilstein"} xref: CAS:617-45-8 {source="KEGG COMPOUND"} xref: CAS:617-45-8 {source="NIST Chemistry WebBook"} xref: CAS:617-45-8 {source="ChemIDplus"} xref: Gmelin:185140 {source="Gmelin"} xref: KEGG:C16433 xref: PMID:22264337 {source="Europe PMC"} xref: Reaxys:774618 {source="Reaxys"} xref: Wikipedia:Aspartic_acid is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H7NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H7NO4/c5-2(4(8)9)1-3(6)7/h2H,1,5H2,(H,6,7)(H,8,9)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CKLJMWTZIZZHCS-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "133.10272" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "133.03751" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NC(CC(O)=O)C(O)=O" xsd:string [Term] id: CHEBI:22676 name: auxin namespace: chebi_ontology def: "Any of a group of compounds, both naturally occurring and synthetic, that induce cell elongation in plant stems (from Greek alphaupsilonxialphanuomega, \"to grow\")." [] subset: 3_STAR synonym: "auxins" RELATED [ChEBI] xref: Wikipedia:Auxin is_a: CHEBI:37848 ! plant hormone [Term] id: CHEBI:22707 name: benzenetriol namespace: chebi_ontology def: "A triol in which three hydroxy groups are substituted onto a benzene ring." [] subset: 3_STAR synonym: "benzenetriols" RELATED [ChEBI] synonym: "trihydroxybenzenes" RELATED [ChEBI] is_a: CHEBI:33853 ! phenols [Term] id: CHEBI:22720 name: benzodiazepine namespace: chebi_ontology def: "A group of heterocyclic compounds with a core structure containing a benzene ring fused to a diazepine ring." [] subset: 3_STAR synonym: "benzodiazepines" RELATED [ChEBI] xref: MeSH:D001569 xref: NCIt:C1012 xref: SNOMEDCT:16047007 xref: SNOMEDCT:372664007 is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role EFO:0001899 ! drug role [Term] id: CHEBI:2274 name: 7-methylguanine namespace: chebi_ontology def: "A methylguanine that is guanine substituted by a methyl group at position 7. It is a metabolite obtained during the methylation of DNA." [] subset: 3_STAR synonym: "7-Methylguanine" EXACT [KEGG_COMPOUND] xref: KEGG:C02242 xref: PMID:16059882 {source="Europe PMC"} is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H7N5O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "165.153" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "165.06506" xsd:string [Term] id: CHEBI:22907 name: bleomycin namespace: chebi_ontology alt_id: CHEBI:584977 def: "A glycopeptide produced by the bacterium Streptomyces verticillus. The term, 'bleomycin' refers to a family of structurally related compounds. When used as an anti-cancer agent, the chemotherapeutical forms are primarily bleomycin A2 and B2." [] subset: 3_STAR xref: DrugBank:DB00290 xref: MeSH:D001761 xref: NCIt:C313 xref: SNOMEDCT:372843005 xref: SNOMEDCT:76591000 xref: Wikipedia:Bleomycin is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:22917 name: phytogenic insecticide namespace: chebi_ontology def: "An insecticide compound naturally occurring in plants." [] subset: 3_STAR synonym: "botanical insecticide" RELATED [ChEBI] synonym: "botanical insecticides" RELATED [ChEBI] synonym: "phytogenic insecticides" RELATED [ChEBI] is_a: CHEBI:24852 ! insecticide [Term] id: CHEBI:22977 name: cadmium atom namespace: chebi_ontology subset: 3_STAR synonym: "48Cd" RELATED [IUPAC] synonym: "cadmio" RELATED [ChEBI] synonym: "cadmium" EXACT IUPAC_NAME [IUPAC] synonym: "cadmium" RELATED [ChEBI] synonym: "Cd" RELATED [IUPAC] synonym: "Kadmium" RELATED [NIST_Chemistry_WebBook] xref: CAS:7440-43-9 {source="NIST Chemistry WebBook"} xref: CAS:7440-43-9 {source="ChemIDplus"} xref: CAS:7440-43-9 {source="KEGG COMPOUND"} xref: KEGG:C01413 xref: MeSH:D002104 xref: NCIt:C44348 xref: SNOMEDCT:66586000 xref: WebElements:Cd is_a: CHEBI:33250 ! atom property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "Cd" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/Cd" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BDOSMKKIYDKNTQ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "112.41100" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "113.90336" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Cd]" xsd:string [Term] id: CHEBI:22978 name: cadmium molecular entity namespace: chebi_ontology subset: 3_STAR synonym: "cadmium compounds" RELATED [ChEBI] synonym: "cadmium molecular entities" RELATED [ChEBI] is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:22984 name: calcium atom namespace: chebi_ontology subset: 3_STAR synonym: "20Ca" RELATED [IUPAC] synonym: "Ca" RELATED [IUPAC] synonym: "Ca" RELATED [UniProt] synonym: "calcio" RELATED [ChEBI] synonym: "Calcium" RELATED [KEGG_COMPOUND] synonym: "calcium" EXACT IUPAC_NAME [IUPAC] synonym: "calcium" RELATED [ChEBI] synonym: "Kalzium" RELATED [ChEBI] xref: CAS:7440-70-2 {source="ChemIDplus"} xref: ChemIDplus:7440-70-2 xref: DrugBank:DB01373 xref: KEGG:C00076 xref: MeSH:D002118 xref: NCIt:C331 xref: SNOMEDCT:5540006 xref: WebElements:Ca is_a: CHEBI:33250 ! atom property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "Ca" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/Ca" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OYPRJOBELJOOCE-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "40.07800" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "39.96259" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Ca]" xsd:string [Term] id: CHEBI:22986 name: calcium ionophore namespace: chebi_ontology subset: 3_STAR synonym: "calcium ionophores" RELATED [ChEBI] xref: MeSH:D061207 xref: SNOMEDCT:96384007 is_a: CHEBI:24432 ! biological role [Term] id: CHEBI:23051 name: castasterone namespace: chebi_ontology subset: 3_STAR synonym: "(22R,23R)-2alpha,3alpha,22,23-tetrahydroxy-5alpha-campestan-6-one" EXACT IUPAC_NAME [IUPAC] synonym: "(2alpha,3alpha,5alpha,22R,23R,24S)-2,3,22,23-tetrahydroxyergostan-6-one" RELATED [ChemIDplus] synonym: "castasterone" EXACT [UniProt] xref: Beilstein:3657132 {source="Beilstein"} xref: CAS:80736-41-0 {source="ChemIDplus"} xref: CAS:80736-41-0 {source="KEGG COMPOUND"} xref: KEGG:C15794 xref: KNApSAcK:C00000181 xref: LIPID_MAPS_instance:LMST01030129 {source="LIPID MAPS"} xref: PMID:30984218 {source="Europe PMC"} xref: PMID:31333694 {source="Europe PMC"} xref: PMID:32146811 {source="Europe PMC"} xref: PMID:34868105 {source="Europe PMC"} is_a: CHEBI:35341 ! steroid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C28H48O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C28H48O5/c1-14(2)15(3)25(32)26(33)16(4)18-7-8-19-17-11-22(29)21-12-23(30)24(31)13-28(21,6)20(17)9-10-27(18,19)5/h14-21,23-26,30-33H,7-13H2,1-6H3/t15-,16-,17-,18+,19-,20-,21+,23-,24+,25+,26+,27+,28+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VYUIKSFYFRVQLF-YLNAYWRASA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "464.67772" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "464.35017" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]1(CC[C@@]2([H])[C@]3([H])CC(=O)[C@@]4([H])C[C@H](O)[C@H](O)C[C@]4(C)[C@@]3([H])CC[C@]12C)[C@H](C)[C@@H](O)[C@H](O)[C@@H](C)C(C)C" xsd:string [Term] id: CHEBI:23057 name: cathasterone namespace: chebi_ontology subset: 3_STAR synonym: "(22S)-3beta,22-dihydroxy-5alpha-campestan-6-one" EXACT IUPAC_NAME [IUPAC] synonym: "6-oxo-campestan-3beta,22R-diol" RELATED [LIPID_MAPS] synonym: "cathasterone" EXACT [UniProt] xref: Beilstein:7416517 {source="Beilstein"} xref: KEGG:C15790 xref: KNApSAcK:C00007275 xref: LIPID_MAPS_instance:LMST01030132 {source="LIPID MAPS"} is_a: CHEBI:35341 ! steroid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C28H48O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C28H48O3/c1-16(2)17(3)13-25(30)18(4)21-7-8-22-20-15-26(31)24-14-19(29)9-11-28(24,6)23(20)10-12-27(21,22)5/h16-25,29-30H,7-15H2,1-6H3/t17-,18+,19+,20+,21-,22+,23+,24-,25+,27-,28-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JSVPGVHCEQDJCZ-VGEHDTSWSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "432.67892" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "432.36035" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]1(CC[C@@]2([H])[C@]3([H])CC(=O)[C@@]4([H])C[C@@H](O)CC[C@]4(C)[C@@]3([H])CC[C@]12C)[C@H](C)[C@@H](O)C[C@@H](C)C(C)C" xsd:string [Term] id: CHEBI:23098 name: chiro-inositol namespace: chebi_ontology subset: 3_STAR synonym: "chiro-inositol" EXACT [ChEBI] synonym: "chiro-inositols" RELATED [ChEBI] is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H12O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "180.156" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "180.06339" xsd:string [Term] id: CHEBI:23354 name: coenzyme namespace: chebi_ontology def: "A low-molecular-weight, non-protein organic compound participating in enzymatic reactions as dissociable acceptor or donor of chemical groups or electrons." [] subset: 3_STAR synonym: "coenzyme" EXACT IUPAC_NAME [IUPAC] synonym: "coenzymes" RELATED [ChEBI] xref: MeSH:D003067 xref: SNOMEDCT:129913005 is_a: CHEBI:24432 ! biological role [Term] id: CHEBI:23359 name: colchicine namespace: chebi_ontology def: "An alkaloid that is a carbotricyclic compound comprising 5,6,7,9-tetrahydrobenzo[a]heptalene having four methoxy substituents at the 1-, 2-, 3- and 10-positions as well as an oxo group at the 9-position and an acetamido group at the 7-position. It has been isolated from the plants belonging to genus Colchicum." [] subset: 3_STAR synonym: "N-(1,2,3,10-tetramethoxy-9-oxo-5,6,7,9-tetrahydrobenzo[a]heptalen-7-yl)acetamide" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:2228812 {source="Beilstein"} xref: CAS:54192-66-4 {source="NIST Chemistry WebBook"} xref: DrugBank:DB01394 xref: HMDB:HMDB0015466 xref: LINCS:LSM-6449 xref: MeSH:D003078 xref: NCIt:C385 xref: PMID:10680067 {source="Europe PMC"} xref: PMID:24074178 {source="Europe PMC"} xref: PMID:7200520 {source="Europe PMC"} xref: PMID:9819133 {source="Europe PMC"} xref: Reaxys:2228812 {source="Reaxys"} xref: SNOMEDCT:387413002 xref: SNOMEDCT:73133000 is_a: CHEBI:24431 ! chemical entity relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H25NO6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C22H25NO6/c1-12(24)23-16-8-6-13-10-19(27-3)21(28-4)22(29-5)20(13)14-7-9-18(26-2)17(25)11-15(14)16/h7,9-11,16H,6,8H2,1-5H3,(H,23,24)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IAKHMKGGTNLKSZ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "399.43704" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "399.16819" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "COc1cc2CCC(NC(C)=O)c3cc(=O)c(OC)ccc3-c2c(OC)c1OC" xsd:string [Term] id: CHEBI:23366 name: compatible osmolytes namespace: chebi_ontology subset: 1_STAR is_a: CHEBI:24432 ! biological role is_a: CHEBI:51086 ! chemical role relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:2341 name: AACOCF3 namespace: chebi_ontology def: "A fatty acid derivative that is arachidonic acid in which the OH part of the carboxy group has been replaced by a trifluoromethyl group" [] subset: 3_STAR synonym: "(6Z,9Z,12Z,15Z)-1,1,1-trifluorohenicosa-6,9,12,15-tetraen-2-one" EXACT IUPAC_NAME [IUPAC] synonym: "AACOCF3" EXACT [KEGG_COMPOUND] synonym: "Arachidonic acid trifluoromethyl ketone" RELATED [ChemIDplus] synonym: "Arachidonyl trifluoromethyl ketone" RELATED [ChemIDplus] synonym: "Arachidonyltrifluoromethane" RELATED [ChemIDplus] xref: CAS:149301-79-1 {source="ChemIDplus"} xref: ChEMBL:138208 xref: ChemIDplus:149301-79-1 xref: KEGG COMPOUND:C01397 xref: KEGG:C01397 xref: MeSH:C081565 xref: Reaxys:7593118 {source="Reaxys"} is_a: CHEBI:18059 ! lipid relationship: has_role CHEBI:50469 ! EC 3.1.1.4 (phospholipase A2) inhibitor property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C21H31F3O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C21H31F3O/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-18-19-20(25)21(22,23)24/h6-7,9-10,12-13,15-16H,2-5,8,11,14,17-19H2,1H3/b7-6-,10-9-,13-12-,16-15-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PLWROONZUDKYKG-DOFZRALJSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "356.46540" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "356.23270" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCC\\C=C/C\\C=C/C\\C=C/C\\C=C/CCCC(=O)C(F)(F)F" xsd:string [Term] id: CHEBI:23414 name: copper(II) sulfate namespace: chebi_ontology def: "A metal sulfate compound having copper(2+) as the metal ion." [] subset: 3_STAR synonym: "copper sulfate" RELATED [ChemIDplus] synonym: "copper(2+) sulfate" EXACT IUPAC_NAME [IUPAC] synonym: "Copper(II) sulfate" EXACT [KEGG_COMPOUND] synonym: "copper(II) sulfate" EXACT IUPAC_NAME [IUPAC] synonym: "Cupric sulfate" RELATED [ChemIDplus] synonym: "cupric sulfate anhydrous" RELATED [ChemIDplus] synonym: "CuSO4" RELATED [IUPAC] xref: CAS:7758-98-7 {source="ChemIDplus"} xref: CAS:7758-98-7 {source="KEGG COMPOUND"} xref: ChemIDplus:7758-98-7 xref: CiteXplore:10469300 xref: CiteXplore:8566016 xref: Gmelin:8294 {source="Gmelin"} xref: KEGG:C18713 xref: MeSH:D019327 xref: NCIt:C65354 xref: NCIt:C83640 xref: PMID:10469300 {source="Europe PMC"} xref: PMID:29079364 {source="Europe PMC"} xref: PMID:8566016 {source="Europe PMC"} xref: PPDB:178 xref: SNOMEDCT:423960007 xref: SNOMEDCT:70168001 xref: Wikipedia:Copper(II)_sulfate xref: Wikipedia:Cupric_Sulfate is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "CuO4S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/Cu.H2O4S/c;1-5(2,3)4/h;(H2,1,2,3,4)/q+2;/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ARUVKPQLZAKDPS-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "159.60960" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "158.88133" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Cu++].[O-]S([O-])(=O)=O" xsd:string [Term] id: CHEBI:23527 name: cytochalasin B namespace: chebi_ontology def: "An organic heterotricyclic compound, that is a mycotoxin which is cell permeable an an inhibitor of cytoplasmic division by blocking the formation of contractile microfilaments." [] subset: 3_STAR synonym: "(3E,5R,9R,11E,12aS,13S,15S,15aS,16S,18aS)-16-benzyl-5,13-dihydroxy-9,15-dimethyl-14-methylidene-6,7,8,9,10,12a,13,14,15,15a,16,17-dodecahydro-2H-oxacyclotetradecino[2,3-d]isoindole-2,18(5H)-dione" EXACT IUPAC_NAME [IUPAC] synonym: "cytochalasin B" EXACT [UniProt] synonym: "Phomin" RELATED [ChEBI] xref: AGR:IND605251338 {source="Europe PMC"} xref: AGR:IND605574141 {source="Europe PMC"} xref: CAS:14930-96-2 {source="ChemIDplus"} xref: KEGG:C19954 xref: KNApSAcK:C00011322 xref: LIPID_MAPS_instance:LMPK11000002 {source="LIPID MAPS"} xref: MetaCyc:CPD-20745 xref: PMID:10716458 {source="Europe PMC"} xref: PMID:15869745 {source="Europe PMC"} xref: PMID:22882828 {source="Europe PMC"} xref: PMID:27581081 {source="Europe PMC"} xref: PMID:29050297 {source="Europe PMC"} xref: PMID:33070838 {source="Europe PMC"} xref: PMID:33996522 {source="Europe PMC"} xref: PMID:7327176 {source="Europe PMC"} xref: PMID:7378656 {source="Europe PMC"} xref: PMID:9568120 {source="Europe PMC"} xref: Reaxys:1096210 {source="Reaxys"} xref: Wikipedia:Cytochalasin_B is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C29H37NO5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C29H37NO5/c1-18-9-7-13-22(31)15-16-25(32)35-29-23(14-8-10-18)27(33)20(3)19(2)26(29)24(30-28(29)34)17-21-11-5-4-6-12-21/h4-6,8,11-12,14-16,18-19,22-24,26-27,31,33H,3,7,9-10,13,17H2,1-2H3,(H,30,34)/b14-8+,16-15+/t18-,19-,22-,23+,24+,26+,27-,29-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GBOGMAARMMDZGR-TYHYBEHESA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "479.60780" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "479.26717" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12\\C=C\\C[C@H](C)CCC[C@@H](O)\\C=C\\C(=O)O[C@]11C(=O)N[C@@H](Cc3ccccc3)[C@]1([H])[C@H](C)C(=C)[C@H]2O" xsd:string [Term] id: CHEBI:23530 name: cytokinin namespace: chebi_ontology def: "A phytohormone that promote cell division, or cytokinesis, in plant roots and shoots." [] subset: 3_STAR xref: MeSH:D003583 xref: SNOMEDCT:88074008 xref: Wikipedia:Cytokinin is_a: CHEBI:37848 ! plant hormone [Term] id: CHEBI:23614 name: deoxycholate namespace: chebi_ontology subset: 3_STAR synonym: "3alpha,12alpha-dihydroxy-5beta-cholan-24-oate" EXACT IUPAC_NAME [IUPAC] synonym: "3alpha,12alpha-dihydroxy-5beta-cholanate" RELATED [ChEBI] synonym: "deoxycholate" EXACT [UniProt] synonym: "Desoxycholat" RELATED [ChEBI] xref: Beilstein:3629953 {source="Beilstein"} xref: Gmelin:1774558 {source="Gmelin"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C24H39O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C24H40O4/c1-14(4-9-22(27)28)18-7-8-19-17-6-5-15-12-16(25)10-11-23(15,2)20(17)13-21(26)24(18,19)3/h14-21,25-26H,4-13H2,1-3H3,(H,27,28)/p-1/t14-,15-,16-,17+,18-,19+,20+,21+,23+,24-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KXGVEGMKQFWNSR-LLQZFEROSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "391.56406" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "391.28538" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]12CC[C@@]3([H])[C@]4([H])CC[C@]([H])([C@H](C)CCC([O-])=O)[C@@]4(C)[C@@H](O)C[C@]3([H])[C@@]1(C)CC[C@@H](O)C2" xsd:string [Term] id: CHEBI:2365 name: (+)-abscisic acid namespace: chebi_ontology alt_id: CHEBI:158341 def: "The naturally occurring (1'S)-(+) enantiomer of abscisic acid. It is an important sesquiterpenoid plant hormone which acts as a regulator of plant responses to environmental stresses such as drought and cold." [] subset: 3_STAR synonym: "(+)-(S)-ABA" RELATED [ChEBI] synonym: "(+)-Abscisic acid" EXACT [KEGG_COMPOUND] synonym: "(+)-S-ABA" RELATED [ChEBI] synonym: "(2Z,4E)-5-[(1S)-1-hydroxy-2,6,6-trimethyl-4-oxocyclohex-2-en-1-yl]-3-methylpenta-2,4-dienoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "(7E,9Z)-(6S)-6-hydroxy-3-oxo-11-apo-epsilon-caroten-11-oic acid" RELATED [JCBN] synonym: "(S)-(+)-abscisic acid" RELATED [ChemIDplus] synonym: "2-cis,4-trans-abscisic acid" RELATED [ChemIDplus] synonym: "ABA" RELATED [ChemIDplus] synonym: "Abscisic acid" RELATED [KEGG_COMPOUND] synonym: "abscisin II" RELATED [ChemIDplus] xref: Beilstein:2130328 {source="Beilstein"} xref: Beilstein:4190247 {source="Beilstein"} xref: BPDB:2486 xref: CAS:21293-29-8 {source="KEGG COMPOUND"} xref: CAS:21293-29-8 {source="ChemIDplus"} xref: HMDB:HMDB0035140 xref: KEGG:C06082 xref: KNApSAcK:C00000134 xref: LIPID_MAPS_instance:LMPR0103050001 {source="LIPID MAPS"} xref: PMID:10915053 {source="ChEMBL"} xref: PMID:12114582 {source="Europe PMC"} xref: PMID:16169217 {source="ChEMBL"} xref: PMID:17582774 {source="ChEMBL"} xref: PMID:17741533 {source="Europe PMC"} xref: PMID:19898420 {source="Europe PMC"} xref: PMID:19956245 {source="Europe PMC"} xref: Reaxys:2130328 {source="Reaxys"} xref: Wikipedia:Abscisic_acid is_a: CHEBI:22152 ! 2-cis-abscisic acid relationship: has_role CHEBI:37848 ! plant hormone property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C15H20O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C15H20O4/c1-10(7-13(17)18)5-6-15(19)11(2)8-12(16)9-14(15,3)4/h5-8,19H,9H2,1-4H3,(H,17,18)/b6-5+,10-7-/t15-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JLIDBLDQVAYHNE-YKALOCIXSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "264.31690" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "264.13616" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(\\C=C\\[C@@]1(O)C(C)=CC(=O)CC1(C)C)=C\\C(O)=O" xsd:string [Term] id: CHEBI:2376 name: acarbose namespace: chebi_ontology alt_id: CHEBI:40513 def: "A tetrasaccharide derivative consisting of a dideoxy-4-{[4,5,6-trihydroxy-3-(hydroxymethyl)cyclohex-2-en-1-yl C7 cyclitol moiety [called valienol (or valienamine)] linked via nitrogen to isomaltotriose." [] subset: 3_STAR synonym: "4,6-dideoxy-4-{[(1S,4R,5S,6S)-4,5,6-trihydroxy-3-(hydroxymethyl)cyclohex-2-en-1-yl]amino}-alpha-D-glucopyranosyl-(1->4)-alpha-D-glucopyranosyl-(1->4)-D-glucopyranose" EXACT IUPAC_NAME [IUPAC] synonym: "acarbosa" RELATED INN [WHO_MedNet] synonym: "acarbose" RELATED INN [WHO_MedNet] synonym: "acarbosum" RELATED INN [WHO_MedNet] synonym: "Glucobay" RELATED BRAND_NAME [DrugBank] synonym: "Precose" RELATED [ChemIDplus] synonym: "Precose" RELATED BRAND_NAME [DrugBank] xref: CAS:56180-94-0 {source="ChemIDplus"} xref: CAS:56180-94-0 {source="KEGG COMPOUND"} xref: Chemspider:38116 xref: Drug_Central:39 {source="DrugCentral"} xref: DrugBank:DB00284 xref: HMDB:HMDB0014429 xref: KEGG:C06802 xref: KEGG:D00216 xref: KNApSAcK:C00016021 xref: LINCS:LSM-4345 xref: Patent:DE2347782 xref: Patent:US4062950 xref: PMID:11937512 {source="Europe PMC"} xref: PMID:18248270 {source="Europe PMC"} xref: PMID:24245565 {source="Europe PMC"} xref: PMID:25044702 {source="Europe PMC"} xref: PMID:8893066 {source="Europe PMC"} xref: PMID:9805641 {source="Europe PMC"} xref: Wikipedia:Acarbose is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C25H43NO18" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C25H43NO18/c1-6-11(26-8-2-7(3-27)12(30)15(33)13(8)31)14(32)19(37)24(40-6)43-22-10(5-29)42-25(20(38)17(22)35)44-21-9(4-28)41-23(39)18(36)16(21)34/h2,6,8-39H,3-5H2,1H3/t6-,8+,9-,10-,11-,12-,13+,14+,15+,16-,17-,18-,19-,20-,21-,22-,23?,24-,25-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XUFXOAAUWZOOIT-UGEKTDRHSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "645.60480" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "645.24801" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[C@H]1O[C@H](O[C@@H]2[C@@H](CO)O[C@H](O[C@@H]3[C@@H](CO)OC(O)[C@H](O)[C@H]3O)[C@H](O)[C@H]2O)[C@H](O)[C@@H](O)[C@@H]1N[C@H]1C=C(CO)[C@@H](O)[C@H](O)[C@H]1O" xsd:string [Term] id: CHEBI:23888 name: drug namespace: chebi_ontology def: "Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." [] subset: 3_STAR synonym: "drugs" RELATED [ChEBI] synonym: "medicine" RELATED [ChEBI] xref: MeSH:D008511 xref: NCIt:C16833 is_a: CHEBI:33232 ! application [Term] id: CHEBI:23924 name: enzyme inhibitor namespace: chebi_ontology def: "A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction." [] subset: 3_STAR synonym: "enzyme inhibitor" EXACT IUPAC_NAME [IUPAC] synonym: "enzyme inhibitors" RELATED [ChEBI] synonym: "inhibidor enzimatico" RELATED [ChEBI] synonym: "inhibidores enzimaticos" RELATED [ChEBI] synonym: "inhibiteur enzymatique" RELATED [ChEBI] synonym: "inhibiteurs enzymatiques" RELATED [ChEBI] xref: MeSH:D004791 xref: NCIt:C471 xref: SNOMEDCT:407312007 xref: SNOMEDCT:407314008 is_a: CHEBI:35222 ! inhibitor [Term] id: CHEBI:23965 name: estradiol namespace: chebi_ontology alt_id: CHEBI:42364 def: "A 3-hydroxy steroid that is estra-1,3,5(10)-triene substituted by hydroxy groups at positions 3 and 17." [] subset: 3_STAR synonym: "estra-1,3,5(10)-triene-3,17-diol" EXACT IUPAC_NAME [IUPAC] synonym: "oestradiol" RELATED [ChEBI] xref: MeSH:D004958 xref: NCIt:C2295 xref: PMID:10696569 {source="Europe PMC"} xref: PMID:24084694 {source="Europe PMC"} xref: SNOMEDCT:126172005 xref: Wikipedia:Estradiol is_a: CHEBI:33853 ! phenols is_a: CHEBI:35341 ! steroid relationship: has_role EFO:0001824 ! hormone role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H24O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H24O2/c1-18-9-8-14-13-5-3-12(19)10-11(13)2-4-15(14)16(18)6-7-17(18)20/h3,5,10,14-17,19-20H,2,4,6-9H2,1H3/t14-,15-,16+,17?,18+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VOXZDWNPVJITMN-WKUFJEKOSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "272.38196" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "272.17763" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]12CC[C@]3(C)C(O)CC[C@@]3([H])[C@]1([H])CCc1cc(O)ccc21" xsd:string [Term] id: CHEBI:23995 name: N-ethyl-N-nitrosourea namespace: chebi_ontology def: "A member of the class of N-nitrosoureas that is urea in which one of the nitrogens is substituted by ethyl and nitroso groups." [] subset: 3_STAR synonym: "1-(Aminocarbonyl)-1-ethyl-2-oxohydrazine" RELATED [NIST_Chemistry_WebBook] synonym: "1-Ethyl-1-nitrosourea" RELATED [ChemIDplus] synonym: "1-ethyl-1-nitrosourea" EXACT IUPAC_NAME [IUPAC] synonym: "Aethylnitroso-harnstoff" RELATED [ChemIDplus] synonym: "ENU" RELATED [ChemIDplus] synonym: "Ethyl nitrosourea" RELATED [ChemIDplus] synonym: "N-Ethyl-N-nitroso carbamide" RELATED [ChemIDplus] synonym: "N-Ethyl-N-nitroso-urea" RELATED [ChemIDplus] synonym: "N-Ethylnitrosourea" RELATED [ChemIDplus] synonym: "NEU" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:1761174 {source="Beilstein"} xref: CAS:759-73-9 {source="NIST Chemistry WebBook"} xref: CAS:759-73-9 {source="ChemIDplus"} xref: CAS:759-73-9 {source="KEGG COMPOUND"} xref: KEGG:C19178 xref: PMID:11732210 {source="Europe PMC"} xref: PMID:11853764 {source="Europe PMC"} xref: PMID:11880538 {source="Europe PMC"} xref: PMID:16423555 {source="Europe PMC"} xref: PMID:21861612 {source="Europe PMC"} xref: PMID:22012195 {source="Europe PMC"} xref: PMID:22238669 {source="Europe PMC"} xref: PMID:23551873 {source="Europe PMC"} xref: PMID:24175309 {source="Europe PMC"} xref: PMID:8603364 {source="Europe PMC"} xref: Reaxys:1761174 {source="Reaxys"} xref: Wikipedia:ENU is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:25435 ! mutagen property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H7N3O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H7N3O2/c1-2-6(5-8)3(4)7/h2H2,1H3,(H2,4,7)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FUSGACRLAFQQRL-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "117.10660" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "117.05383" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCN(N=O)C(N)=O" xsd:string [Term] id: CHEBI:24040 name: flavin adenine dinucleotide namespace: chebi_ontology subset: 3_STAR is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:26020 ! phosphate [Term] id: CHEBI:24127 name: fungicide namespace: chebi_ontology def: "A substance used to destroy fungal pests." [] subset: 3_STAR synonym: "fungicides" RELATED [ChEBI] xref: NCIt:C1697 xref: SNOMEDCT:19209005 is_a: CHEBI:33232 ! application is_a: CHEBI:35718 ! antifungal agent relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:24148 name: galactonate namespace: chebi_ontology subset: 3_STAR is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H11O7" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "195.148" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "195.05048" xsd:string [Term] id: CHEBI:24265 name: gluconate namespace: chebi_ontology subset: 3_STAR synonym: "gluconate" EXACT IUPAC_NAME [IUPAC] is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H11O7" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "195.148" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "195.05048" xsd:string [Term] id: CHEBI:24297 name: glucuronate namespace: chebi_ontology subset: 3_STAR synonym: "gluconuronate" RELATED [ChEBI] synonym: "glucuronate" EXACT IUPAC_NAME [IUPAC] is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H9O7" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "193.132" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "193.03483" xsd:string [Term] id: CHEBI:24431 name: chemical entity namespace: chebi_ontology def: "A chemical entity is a physical entity of interest in chemistry including molecular entities, parts thereof, and chemical substances." [] subset: 3_STAR synonym: "chemical entity" EXACT [UniProt] is_a: BFO:0000040 ! material entity [Term] id: CHEBI:24432 name: biological role namespace: chebi_ontology def: "A role played by the molecular entity or part thereof within a biological context." [] subset: 3_STAR synonym: "biological function" RELATED [ChEBI] is_a: BFO:0000023 ! role [Term] id: CHEBI:24462 name: gulonic acid namespace: chebi_ontology def: "A hexonic acid formed by oxidising the aldehyde group of gulose to a carboxylic acid group." [] subset: 3_STAR xref: PMID:19768707 {source="Europe PMC"} is_a: CHEBI:16646 ! carbohydrate property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H12O7" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "196.156" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "196.05830" xsd:string [Term] id: CHEBI:24527 name: herbicide namespace: chebi_ontology def: "A substance used to destroy plant pests." [] subset: 3_STAR synonym: "herbicides" RELATED [ChEBI] synonym: "Herbizid" RELATED [ChEBI] synonym: "Unkrautbekaempfungsmittel" RELATED [ChEBI] synonym: "Unkrautvertilgungsmittel" RELATED [ChEBI] synonym: "Wildkrautbekaempfungsmittel" RELATED [ChEBI] xref: Wikipedia:Herbicide is_a: CHEBI:33232 ! application [Term] id: CHEBI:2453 name: acyclovir namespace: chebi_ontology alt_id: CHEBI:40459 def: "An oxopurine that is guanine substituted by a (2-hydroxyethoxy)methyl substituent at position 9. Used in the treatment of viral infections." [] subset: 3_STAR synonym: "2-amino-9-[(2-hydroxyethoxy)methyl]-1,9-dihydro-6H-purin-6-one" EXACT IUPAC_NAME [IUPAC] synonym: "aciclovir" RELATED INN [ChEBI] synonym: "aciclovirum" RELATED INN [ChemIDplus] synonym: "acycloguanosine" RELATED [ChEBI] synonym: "Zovir" RELATED BRAND_NAME [DrugBank] xref: Beilstein:1219402 {source="Beilstein"} xref: CAS:59277-89-3 {source="KEGG COMPOUND"} xref: CAS:59277-89-3 {source="ChemIDplus"} xref: Drug_Central:85 {source="DrugCentral"} xref: DrugBank:DB00787 xref: HMDB:HMDB0014925 xref: KEGG:C06810 xref: KEGG:D00222 xref: LINCS:LSM-5459 xref: MeSH:D000212 xref: NCIt:C205 xref: Patent:DE2539963 xref: Patent:US4199574 xref: PDBeChem:AC2 xref: PMID:11687127 {source="Europe PMC"} xref: PMID:11994034 {source="Europe PMC"} xref: PMID:24346595 {source="Europe PMC"} xref: PMID:26024233 {source="Europe PMC"} xref: PMID:28166217 {source="Europe PMC"} xref: PMID:8308511 {source="Europe PMC"} xref: Reaxys:1219402 {source="Reaxys"} xref: SNOMEDCT:372729009 xref: SNOMEDCT:41193000 xref: Wikipedia:Acyclovir is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H11N5O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H11N5O3/c9-8-11-6-5(7(15)12-8)10-3-13(6)4-16-2-1-14/h3,14H,1-2,4H2,(H3,9,11,12,15)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "MKUXAQIIEYXACX-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "225.20460" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "225.08619" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Nc1nc2n(COCCO)cnc2c(=O)[nH]1" xsd:string [Term] id: CHEBI:24532 name: organic heterocyclic compound namespace: chebi_ontology def: "A cyclic compound having as ring members atoms of carbon and at least of one other element." [] subset: 3_STAR synonym: "organic heterocycle" RELATED [ChEBI] synonym: "organic heterocyclic compounds" RELATED [ChEBI] is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:24606 name: homoarginine namespace: chebi_ontology subset: 1_STAR is_a: CHEBI:33709 ! amino acid [Term] id: CHEBI:24621 name: hormone namespace: chebi_ontology def: "Originally referring to an endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function, the term is now commonly used to include non-endogenous, semi-synthetic and fully synthetic analogues of such compounds." [] subset: 3_STAR synonym: "endocrine" RELATED [ChEBI] synonym: "hormones" RELATED [ChEBI] xref: NCIt:C2315 xref: SNOMEDCT:87568004 is_a: CHEBI:24432 ! biological role [Term] id: CHEBI:24757 name: hypochlorous acid namespace: chebi_ontology def: "A chlorine oxoacid with formula HOCl; a weak, unstable acid, it is the active form of chlorine in water." [] subset: 3_STAR synonym: "[ClOH]" RELATED [IUPAC] synonym: "Chlor(I)-saeure" RELATED [ChEBI] synonym: "chloranol" EXACT IUPAC_NAME [IUPAC] synonym: "HClO" RELATED [IUPAC] synonym: "HOCl" RELATED [IUPAC] synonym: "hydroxidochlorine" EXACT IUPAC_NAME [IUPAC] synonym: "hypochloric acid" RELATED [ChEBI] synonym: "hypochlorige Saeure" RELATED [ChEBI] synonym: "hypochlorous acid" EXACT IUPAC_NAME [IUPAC] synonym: "hypochlorous acid" EXACT [UniProt] xref: CAS:7790-92-3 {source="NIST Chemistry WebBook"} xref: CAS:7790-92-3 {source="ChemIDplus"} xref: Gmelin:688 {source="Gmelin"} xref: MeSH:D006997 xref: PMID:11640916 {source="Europe PMC"} xref: PMID:12079432 {source="Europe PMC"} xref: PMID:12215218 {source="Europe PMC"} xref: PMID:15589368 {source="Europe PMC"} xref: PMID:7487057 {source="Europe PMC"} xref: PMID:8072005 {source="Europe PMC"} xref: SNOMEDCT:35690007 is_a: EFO:0004416 ! acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "ClHO" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/ClHO/c1-2/h2H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QWPPOHNGKGFGJK-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "52.46004" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "51.97159" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OCl" xsd:string [Term] id: CHEBI:24785 name: iminodiacetate namespace: chebi_ontology def: "A dicarboxylic acid dianion resulting from the removal of a proton from both of the carboxy groups of iminodiacetic acid." [] subset: 3_STAR synonym: "2,2'-iminodiacetate" EXACT IUPAC_NAME [IUPAC] synonym: "iminodiacetic acid dianion" RELATED [ChEBI] xref: MetaCyc:CPD-10189 xref: PMID:1735711 {source="Europe PMC"} xref: PMID:8892809 {source="Europe PMC"} xref: PMID:9023192 {source="Europe PMC"} xref: Reaxys:3663982 {source="Reaxys"} xref: UM-BBD_compID:c0558 {source="UM-BBD"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H5NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H7NO4/c6-3(7)1-5-2-4(8)9/h5H,1-2H2,(H,6,7)(H,8,9)/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NBZBKCUXIYYUSX-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "131.08680" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "131.02295" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-]C(=O)CNCC([O-])=O" xsd:string [Term] id: CHEBI:24809 name: indole-3-carboxylic acid namespace: chebi_ontology alt_id: CHEBI:49657 def: "An indole-3-carboxylic acid carrying a carboxy group at position 3." [] subset: 3_STAR synonym: "1H-indole-3-carboxylic acid" EXACT IUPAC_NAME [IUPAC] synonym: "indole-3-carboxylic acid" EXACT [ChemIDplus] xref: Beilstein:129435 {source="Beilstein"} xref: CAS:771-50-6 {source="ChemIDplus"} xref: Gmelin:1875411 {source="Gmelin"} xref: HMDB:HMDB0003320 xref: PDBeChem:ICO xref: PMID:1262308 {source="Europe PMC"} xref: PMID:13905029 {source="Europe PMC"} xref: PMID:16664264 {source="Europe PMC"} xref: PMID:23116603 {source="Europe PMC"} xref: PMID:4844607 {source="Europe PMC"} xref: Reaxys:129435 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H7NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H7NO2/c11-9(12)7-5-10-8-4-2-1-3-6(7)8/h1-5,10H,(H,11,12)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KMAKOBLIOCQGJP-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "161.15740" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "161.04768" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)c1c[nH]c2ccccc12" xsd:string [Term] id: CHEBI:24852 name: insecticide namespace: chebi_ontology def: "Strictly, a substance intended to kill members of the class Insecta. In common usage, any substance used for preventing, destroying, repelling or controlling insects." [] subset: 3_STAR synonym: "insecticides" RELATED [ChEBI] xref: MeSH:D007306 xref: SNOMEDCT:33278000 xref: Wikipedia:Insecticide is_a: CHEBI:33232 ! application is_a: CHEBI:51086 ! chemical role relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:24867 name: monoatomic ion namespace: chebi_ontology subset: 3_STAR synonym: "monoatomic ions" RELATED [ChEBI] is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:24898 name: isoleucine namespace: chebi_ontology def: "A 2-amino-3-methylpentanoic acid having either (2R,3R)- or (2S,3S)-configuration." [] subset: 3_STAR synonym: "Hile" RELATED [IUPAC] synonym: "isoleucine" EXACT IUPAC_NAME [IUPAC] synonym: "rel-(2R,3R)-2-amino-3-methylpentanoic acid" RELATED [IUPAC] xref: Beilstein:1721790 {source="Beilstein"} xref: CAS:443-79-8 {source="NIST Chemistry WebBook"} xref: CAS:443-79-8 {source="ChemIDplus"} xref: PMID:17190852 {source="Europe PMC"} xref: Reaxys:1721790 {source="Reaxys"} is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H13NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "131.175" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "131.09463" xsd:string [Term] id: CHEBI:24913 name: isoprenoid namespace: chebi_ontology def: "Any lipid formally derived from isoprene (2-methylbuta-1,3-diene), the skeleton of which can generally be discerned in repeated occurrence in the molecule. The skeleton of isoprenoids may differ from strict additivity of isoprene units by loss or shift of a fragment, commonly a methyl group. The class includes both hydrocarbons and oxygenated derivatives." [] subset: 3_STAR synonym: "isoprenoid" EXACT [ChEBI] synonym: "isoprenoids" EXACT IUPAC_NAME [IUPAC] synonym: "isoprenoids" RELATED [ChEBI] xref: LIPID_MAPS_class:LMPR01 {source="LIPID MAPS"} xref: PMID:12769708 {source="Europe PMC"} xref: PMID:19219049 {source="Europe PMC"} is_a: CHEBI:18059 ! lipid [Term] id: CHEBI:24937 name: jasmonates namespace: chebi_ontology def: "The jasmonates (JAs) are a group of plant hormones which help regulate plant growth and development." [] subset: 3_STAR xref: Wikipedia:Jasmonate is_a: CHEBI:37848 ! plant hormone [Term] id: CHEBI:24996 name: lactate namespace: chebi_ontology def: "A hydroxy monocarboxylic acid anion that is the conjugate base of lactic acid, arising from deprotonation of the carboxy group." [] subset: 3_STAR synonym: "2-hydroxypropanoate" EXACT IUPAC_NAME [IUPAC] synonym: "2-hydroxypropanoic acid, ion(1-)" RELATED [ChemIDplus] synonym: "2-hydroxypropionate" RELATED [ChemIDplus] synonym: "b-lactate" RELATED [ChEBI] synonym: "beta-lactate" RELATED [ChEBI] synonym: "lactate" EXACT [UniProt] synonym: "MeCH(OH)CO2 anion" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:3587719 {source="Beilstein"} xref: CAS:113-21-3 {source="ChemIDplus"} xref: CAS:113-21-3 {source="NIST Chemistry WebBook"} xref: Gmelin:240074 {source="Gmelin"} xref: KEGG:C01432 xref: MetaCyc:Lactate is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H5O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H6O3/c1-2(4)3(5)6/h2,4H,1H3,(H,5,6)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JVTAAEKCZFNVCJ-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "89.07000" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "89.02442" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(O)C([O-])=O" xsd:string [Term] id: CHEBI:25016 name: lead atom namespace: chebi_ontology subset: 3_STAR synonym: "82Pb" RELATED [IUPAC] synonym: "Blei" RELATED [ChEBI] synonym: "lead" EXACT IUPAC_NAME [IUPAC] synonym: "lead" RELATED [ChEBI] synonym: "Pb" RELATED [IUPAC] synonym: "plomb" RELATED [ChEBI] synonym: "plomo" RELATED [ChEBI] synonym: "plumbum" RELATED [IUPAC] xref: KEGG:C06696 xref: MeSH:D007854 xref: NCIt:C25552 xref: SNOMEDCT:88488004 xref: WebElements:Pb is_a: CHEBI:33250 ! atom property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "Pb" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/Pb" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WABPQHHGFIMREM-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "207.20000" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "207.97665" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Pb]" xsd:string [Term] id: CHEBI:25017 name: leucine namespace: chebi_ontology def: "A branched-chain amino acid that consists of glycine in which one of the hydrogens attached to the alpha-carbon is substituted by an isobutyl group." [] subset: 3_STAR synonym: "(+-)-Leucine" RELATED [ChemIDplus] synonym: "(RS)-Leucine" RELATED [ChemIDplus] synonym: "2-amino-4-methylpentanoic acid" RELATED [IUPAC] synonym: "DL-Leucine" RELATED [ChemIDplus] synonym: "Hleu" RELATED [IUPAC] synonym: "L" RELATED [ChEBI] synonym: "Leu" RELATED [ChEBI] synonym: "Leucin" RELATED [ChEBI] synonym: "leucine" EXACT IUPAC_NAME [IUPAC] synonym: "Leuzin" RELATED [ChEBI] xref: Beilstein:636005 {source="Beilstein"} xref: CAS:328-39-2 {source="ChemIDplus"} xref: CAS:328-39-2 {source="NIST Chemistry WebBook"} xref: Gmelin:50203 {source="Gmelin"} xref: KEGG:C16439 xref: LIPID_MAPS_instance:LMFA01100048 {source="LIPID MAPS"} xref: PMID:17439666 {source="Europe PMC"} xref: Reaxys:636005 {source="Reaxys"} xref: Wikipedia:Leucine is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H13NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H13NO2/c1-4(2)3-5(7)6(8)9/h4-5H,3,7H2,1-2H3,(H,8,9)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ROHFNLRQFUQHCH-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "131.17296" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "131.09463" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)CC(N)C(O)=O" xsd:string [Term] id: CHEBI:2504 name: aflatoxin B1 namespace: chebi_ontology def: "An aflatoxin having a tetrahydrocyclopenta[c]furo[3',2':4,5]furo[2,3-h]chromene skeleton with oxygen functionality at positions 1, 4 and 11." [] subset: 3_STAR synonym: "(6aR,9aS)-4-methoxy-2,3,6a,9a-tetrahydrocyclopenta[c]furo[3',2':4,5]furo[2,3-h]chromene-1,11-dione" EXACT IUPAC_NAME [IUPAC] synonym: "2,3,6aalpha,9aalpha-Tetrahydro-4-methoxycyclopenta(c)furo(3',2':4,5)furo(2,3-h)(1)benzopyran-1,11-dione" RELATED [ChemIDplus] synonym: "Aflatoxin B1" EXACT [KEGG_COMPOUND] synonym: "aflatoxin B1" EXACT [UniProt] xref: CAS:1162-65-8 {source="KEGG COMPOUND"} xref: CAS:1162-65-8 {source="ChemIDplus"} xref: KEGG:C06800 xref: KNApSAcK:C00000546 xref: MeSH:D016604 xref: NCIt:C1315 is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:27026 ! toxin property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C17H12O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C17H12O6/c1-20-10-6-11-14(8-4-5-21-17(8)22-11)15-13(10)7-2-3-9(18)12(7)16(19)23-15/h4-6,8,17H,2-3H2,1H3/t8-,17+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OQIQSTLJSLGHID-WNWIJWBNSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "312.27358" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "312.06339" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]12OC=C[C@@]1([H])c1c(O2)cc(OC)c2c3CCC(=O)c3c(=O)oc12" xsd:string [Term] id: CHEBI:25048 name: linolenic acid namespace: chebi_ontology def: "A two-membered subclass of octadecatrienoic acid comprising the (9Z,12Z,15Z)- and (6Z,9Z,12Z)-isomers. Linolenic acids are nutrients essential to the formation of prostaglandins and are also used in making paints and synthetic resins." [] subset: 3_STAR synonym: "C18:3" RELATED [ChEBI] synonym: "linolenic acids" RELATED [ChEBI] synonym: "Linolensaeure" RELATED [ChEBI] xref: MeSH:D008042 xref: NCIt:C997 xref: SNOMEDCT:81868000 is_a: CHEBI:35366 ! fatty acid [Term] id: CHEBI:25094 name: lysine namespace: chebi_ontology def: "A diamino acid that is caproic (hexanoic) acid bearing two amino substituents at positions 2 and 6." [] subset: 3_STAR synonym: "2,6-diaminohexanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "alpha,epsilon-diaminocaproic acid" RELATED [ChEBI] synonym: "K" RELATED [ChEBI] synonym: "LYS" RELATED [ChEBI] synonym: "Lysin" RELATED [ChEBI] synonym: "lysine" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:1616991 {source="Beilstein"} xref: CAS:70-54-2 {source="NIST Chemistry WebBook"} xref: CAS:70-54-2 {source="ChemIDplus"} xref: ChemIDplus:70-54-2 xref: Gmelin:279284 {source="Gmelin"} xref: KEGG:C16440 xref: MeSH:D008239 xref: NCIt:C29171 xref: NIST Chemistry WebBook:70-54-2 xref: PMID:17439666 {source="Europe PMC"} xref: PMID:22264337 {source="Europe PMC"} xref: Reaxys:1616991 {source="Reaxys"} xref: SNOMEDCT:418834008 xref: SNOMEDCT:75799006 xref: Wikipedia:Lysine is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H14N2O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H14N2O2/c7-4-2-1-3-5(8)6(9)10/h5H,1-4,7-8H2,(H,9,10)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KDXKERNSBIXSRK-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "146.18764" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "146.10553" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NCCCCC(N)C(O)=O" xsd:string [Term] id: CHEBI:25107 name: magnesium atom namespace: chebi_ontology subset: 3_STAR synonym: "12Mg" RELATED [IUPAC] synonym: "magnesio" RELATED [ChEBI] synonym: "Magnesium" RELATED [ChEBI] synonym: "magnesium" EXACT IUPAC_NAME [IUPAC] synonym: "magnesium" RELATED [ChEBI] synonym: "Mg" RELATED [IUPAC] synonym: "Mg" RELATED [UniProt] xref: CAS:7439-95-4 {source="ChemIDplus"} xref: ChemIDplus:7439-95-4 xref: DrugBank:DB01378 xref: Gmelin:16207 {source="Gmelin"} xref: KEGG:C00305 xref: MeSH:D008274 xref: NCIt:C29239 xref: SNOMEDCT:72717003 xref: WebElements:Mg is_a: CHEBI:33250 ! atom property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "Mg" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/Mg" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FYYHWMGAXLPEAU-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "24.30500" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "23.98504" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Mg]" xsd:string [Term] id: CHEBI:2511 name: agarose namespace: chebi_ontology def: "A linear polysaccharide made up from alternating D-galactose and 3,6-anhydro-alpha-L-galactopyranose residues joined by alpha-(1->3)- and beta-(1->4)-linkages." [] subset: 3_STAR synonym: "(1->4)-3,6-anhydro-alpha-L-galactopyranosyl-(1->3)-beta-D-galactopyranan" EXACT IUPAC_NAME [IUPAC] synonym: "[4)-3,6-An-alpha-L-Galp-(1->3)-beta-D-Galp-(1->]n" RELATED [IUBMB] synonym: "Agarose" EXACT [KEGG_COMPOUND] synonym: "Sepharose" RELATED [ChemIDplus] xref: CAS:9012-36-6 {source="KEGG COMPOUND"} xref: CAS:9012-36-6 {source="ChemIDplus"} xref: KEGG:C01399 xref: MeSH:D012685 xref: PMID:25130135 {source="Europe PMC"} xref: PMID:25449918 {source="Europe PMC"} xref: PMID:25450795 {source="Europe PMC"} xref: PMID:25458280 {source="Europe PMC"} xref: PMID:25557616 {source="Europe PMC"} xref: PMID:25598209 {source="Europe PMC"} xref: SNOMEDCT:256227006 xref: Wikipedia:Agarose is_a: CHEBI:18154 ! polysaccharide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12H20O10(C12H18O9)n" xsd:string [Term] id: CHEBI:25212 name: metabolite namespace: chebi_ontology alt_id: CHEBI:26619 alt_id: CHEBI:35220 def: "Any intermediate or product resulting from metabolism. The term 'metabolite' subsumes the classes commonly known as primary and secondary metabolites." [] subset: 3_STAR synonym: "metabolite" EXACT IUPAC_NAME [IUPAC] synonym: "metabolites" RELATED [ChEBI] synonym: "primary metabolites" RELATED [ChEBI] synonym: "secondary metabolites" RELATED [ChEBI] is_a: CHEBI:24432 ! biological role [Term] id: CHEBI:25255 name: methyl methanesulfonate namespace: chebi_ontology def: "A methanesulfonate ester resulting from the formal condensation of methanesulfonic acid with methanol." [] subset: 3_STAR synonym: "as-Dimethyl sulfite" RELATED [ChemIDplus] synonym: "CB1540" RELATED [ChEBI] synonym: "Methanesulfonic acid methyl ester" RELATED [ChemIDplus] synonym: "Methyl mesylate" RELATED [ChemIDplus] synonym: "methyl methanesulfonate" EXACT IUPAC_NAME [IUPAC] synonym: "MMS" RELATED [KEGG_COMPOUND] synonym: "MMS" RELATED [ChemIDplus] xref: CAS:66-27-3 {source="ChemIDplus"} xref: CAS:66-27-3 {source="KEGG COMPOUND"} xref: KEGG:C19181 xref: MeSH:D008741 xref: MetaCyc:CPD-7038 xref: NCIt:C44399 xref: PMID:11016630 {source="Europe PMC"} xref: PMID:14761437 {source="Europe PMC"} xref: PMID:16764919 {source="Europe PMC"} xref: PMID:21353429 {source="Europe PMC"} xref: PMID:21860482 {source="Europe PMC"} xref: PMID:22907509 {source="Europe PMC"} xref: PMID:23117069 {source="Europe PMC"} xref: PMID:23384783 {source="Europe PMC"} xref: PMID:23483329 {source="Europe PMC"} xref: Reaxys:1098586 {source="Reaxys"} xref: Wikipedia:Methyl_methanesulfonate is_a: EFO:0004415 ! ionic salt relationship: has_role CHEBI:22333 ! alkylating agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C2H6O3S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C2H6O3S/c1-5-6(2,3)4/h1-2H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "MBABOKRGFJTBAE-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "110.13200" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "110.00377" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "COS(C)(=O)=O" xsd:string [Term] id: CHEBI:25350 name: mevalonate namespace: chebi_ontology def: "A racemate composed of equimolar amounts of (R)- and (S)-mevalonate." [] subset: 3_STAR synonym: "(+-)-mevalonate" RELATED [ChEBI] synonym: "(RS)-mevalonate" RELATED [ChEBI] synonym: "mevalonic acid anion" RELATED [ChEBI] synonym: "rac-3,5-dihydroxy-3-methylpentanoate" EXACT IUPAC_NAME [IUPAC] synonym: "rac-mevalonate" RELATED [ChEBI] synonym: "racemic mevalonate" RELATED [ChEBI] synonym: "RS-mevalonate" RELATED [ChEBI] xref: Beilstein:4383181 {source="Beilstein"} xref: Reaxys:4383181 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H11O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "147.151" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "147.06628" xsd:string [Term] id: CHEBI:25355 name: mitochondrial respiratory-chain inhibitor namespace: chebi_ontology subset: 3_STAR synonym: "mitochondrial electron transport chain inhibitors" RELATED [ChEBI] synonym: "mitochondrial electron-transport chain inhibitor" RELATED [ChEBI] synonym: "mitochondrial respiratory chain inhibitors" RELATED [ChEBI] is_a: CHEBI:23924 ! enzyme inhibitor [Term] id: CHEBI:25434 name: bis(2-chloroethyl) sulfide namespace: chebi_ontology def: "An ethyl sulfide that is diethyl sulfide in which a hydrogen from each of the terminal methyl groups is replaced by a chlorine. It is a powerful vesicant regulated under the Chemical Weapons Convention." [] subset: 3_STAR synonym: "1,1'-thiobis(2-chloroethane)" RELATED [NIST_Chemistry_WebBook] synonym: "1-chloro-2-[(2-chloroethyl)sulfanyl]ethane" EXACT IUPAC_NAME [IUPAC] synonym: "1-chloro-2-[(2-chloroethyl)thio]ethane" RELATED [IUPAC] synonym: "bis(2-chloroethyl) sulfide" EXACT [ChemIDplus] synonym: "bis(2-chloroethyl) sulphide" RELATED [NIST_Chemistry_WebBook] synonym: "bis(2-chloroethyl)sulfane" RELATED [IUPAC] synonym: "Iprit" RELATED [KEGG_COMPOUND] synonym: "Lost" RELATED [NIST_Chemistry_WebBook] synonym: "Mustard gas" RELATED [KEGG_COMPOUND] synonym: "mustard gas" RELATED [ChemIDplus] synonym: "Senfgas" RELATED [NIST_Chemistry_WebBook] synonym: "sulfur mustard" RELATED [ChemIDplus] synonym: "Yperite" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:1733595 {source="ChemIDplus"} xref: CAS:505-60-2 {source="ChemIDplus"} xref: CAS:505-60-2 {source="KEGG COMPOUND"} xref: CAS:505-60-2 {source="NIST Chemistry WebBook"} xref: Gmelin:324535 {source="Gmelin"} xref: KEGG:C19164 xref: MeSH:D009151 xref: NCIt:C25560 xref: NCIt:C44406 xref: PMID:15908294 {source="Europe PMC"} xref: PMID:19559099 {source="Europe PMC"} xref: PMID:23091586 {source="Europe PMC"} xref: PMID:24467472 {source="Europe PMC"} xref: PMID:24641121 {source="Europe PMC"} xref: PMID:24791566 {source="Europe PMC"} xref: PMID:24801489 {source="Europe PMC"} xref: SNOMEDCT:76533004 xref: Wikipedia:Sulfur_mustard is_a: EFO:0004415 ! ionic salt relationship: has_role CHEBI:22333 ! alkylating agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H8Cl2S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H8Cl2S/c5-1-3-7-4-2-6/h1-4H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QKSKPIVNLNLAAV-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "159.07772" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "157.97238" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "ClCCSCCCl" xsd:string [Term] id: CHEBI:25435 name: mutagen namespace: chebi_ontology def: "An agent that increases the frequency of mutations above the normal background level, usually by interacting directly with DNA and causing it damage, including base substitution." [] subset: 3_STAR synonym: "mutagene" RELATED [ChEBI] synonym: "mutagenes" RELATED [ChEBI] synonym: "mutagenic agent" RELATED [ChEBI] synonym: "mutageno" RELATED [ChEBI] synonym: "mutagenos" RELATED [ChEBI] synonym: "mutagens" RELATED [ChEBI] xref: MeSH:D009153 xref: NCIt:C672 xref: Wikipedia:Mutagen is_a: CHEBI:24432 ! biological role is_a: CHEBI:51086 ! chemical role relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:254496 name: 7,12-dimethyltetraphene namespace: chebi_ontology alt_id: CHEBI:59032 def: "A tetraphene having methyl substituents at the 7- and 12-positions. It is a potent carcinogen and is present in tobacco smoke." [] subset: 3_STAR synonym: "1,4-Dimethyl-2,3-benzphenanthrene" RELATED [NIST_Chemistry_WebBook] synonym: "6,7-Dimethyl-1,2-benzanthracene" RELATED [ChemIDplus] synonym: "7,12-Dimethyl-1,2-benzanthracene" RELATED [ChemIDplus] synonym: "7,12-Dimethyl-1:2-benz(a)anthracene" RELATED [ChemIDplus] synonym: "7,12-Dimethylbenz(a)anthracene" RELATED [ChemIDplus] synonym: "7,12-Dimethylbenzanthracene" RELATED [ChemIDplus] synonym: "7,12-Dimethylbenzanthrancene" RELATED [ChemIDplus] synonym: "7,12-dimethylbenzo[a]anthracene" EXACT IUPAC_NAME [IUPAC] synonym: "7,12-dimethylbenzo[a]anthracene" RELATED [ChEBI] synonym: "7,12-DMBA" RELATED [NIST_Chemistry_WebBook] synonym: "9,10-Dimethyl-1,2-benzanthracene" RELATED [ChemIDplus] synonym: "9,10-Dimethyl-1,2-benzanthrazen" RELATED [ChemIDplus] synonym: "9,10-Dimethylbenz(a)anthracene" RELATED [NIST_Chemistry_WebBook] synonym: "DMBA" RELATED [ChEBI] synonym: "DMBA" RELATED [KEGG_COMPOUND] xref: Beilstein:1912135 {source="Beilstein"} xref: CAS:57-97-6 {source="ChemIDplus"} xref: CAS:57-97-6 {source="NIST Chemistry WebBook"} xref: CAS:57-97-6 {source="KEGG COMPOUND"} xref: Gmelin:263937 {source="Gmelin"} xref: KEGG:C19488 xref: LINCS:LSM-37159 xref: MeSH:D015127 xref: NCIt:C68370 xref: PMID:11488430 {source="Europe PMC"} xref: PMID:12839762 {source="Europe PMC"} xref: PMID:16020197 {source="Europe PMC"} xref: PMID:18992763 {source="Europe PMC"} xref: PMID:7561049 {source="Europe PMC"} is_a: CHEBI:24431 ! chemical entity relationship: has_role EFO:0004457 ! carcinogen role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H16" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H16/c1-13-16-8-5-6-9-17(16)14(2)20-18(13)12-11-15-7-3-4-10-19(15)20/h3-12H,1-2H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ARSRBNBHOADGJU-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "256.34100" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "256.12520" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cc1c2ccccc2c(C)c2c1ccc1ccccc21" xsd:string [Term] id: CHEBI:25461 name: myxothiazol namespace: chebi_ontology alt_id: CHEBI:44129 def: "A 2,4'-bi-1,3-thiazole substituted at the 4-position with a (1E,3S,4R,5E)-7-amino-3,5-dimethoxy-4-methyl-7-oxohepta-1,5-dien-1-yl] group and at the 2'-position with a (2S,3E,5E)-7-methylocta-3,5-dien-2-yl group. It is an inhibitor of coenzyme Q - cytochrome c reductase." [] subset: 3_STAR synonym: "(+)-myxothiazol" RELATED [ChEBI] synonym: "(+)-myxothiazol A" RELATED [ChEBI] synonym: "(2E,4R,5S,6E)-3,5-dimethoxy-4-methyl-7-{2'-[(2S,3E,5E)-7-methylocta-3,5-dien-2-yl][2,4'-bi-1,3-thiazol]-4-yl}hepta-2,6-dienamide" EXACT IUPAC_NAME [IUPAC] synonym: "Myxothiazol A" RELATED [KEGG_COMPOUND] xref: CAS:76706-55-3 {source="ChemIDplus"} xref: CAS:76706-55-3 {source="KEGG COMPOUND"} xref: DrugBank:DB04741 xref: KEGG:C15674 xref: KNApSAcK:C00018319 xref: MetaCyc:CPD0-1244 xref: PDBeChem:MYX xref: PMID:10853768 {source="Europe PMC"} xref: PMID:11134965 {source="Europe PMC"} xref: PMID:11237706 {source="Europe PMC"} xref: PMID:12176058 {source="Europe PMC"} xref: PMID:15312779 {source="Europe PMC"} xref: PMID:16081299 {source="Europe PMC"} xref: PMID:18221415 {source="Europe PMC"} xref: PMID:24414973 {source="Europe PMC"} xref: PMID:24661880 {source="Europe PMC"} xref: PMID:2753821 {source="Europe PMC"} xref: PMID:2846049 {source="Europe PMC"} xref: PMID:29402945 {source="Europe PMC"} xref: PMID:31079230 {source="Europe PMC"} xref: PMID:6274398 {source="Europe PMC"} xref: PMID:6752659 {source="Europe PMC"} xref: PMID:7247372 {source="Europe PMC"} xref: PMID:7271921 {source="Europe PMC"} xref: Wikipedia:Myxothiazol is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C25H33N3O3S2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C25H33N3O3S2/c1-16(2)9-7-8-10-17(3)24-28-20(15-33-24)25-27-19(14-32-25)11-12-21(30-5)18(4)22(31-6)13-23(26)29/h7-18,21H,1-6H3,(H2,26,29)/b9-7+,10-8+,12-11+,22-13+/t17-,18+,21-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XKTFQMCPGMTBMD-FYHMSGCOSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "487.680" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "487.19633" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CO[C@@H](\\C=C\\C1=CSC(=N1)C1=CSC(=N1)[C@@H](C)\\C=C\\C=C\\C(C)C)[C@@H](C)C(\\OC)=C/C(N)=O" xsd:string [Term] id: CHEBI:2555 name: aldicarb namespace: chebi_ontology def: "The oxime carbamate resulting from the addition of 2-methyl-2-(methylsulfanyl)propanaldoxime to methyl isocyanate. A member of the class of oxime carbamate insecticides, aldicarb is a mixture of E and Z isomers; it is not known which isomer is more active." [] subset: 3_STAR synonym: "2-Methyl-2-(methylthio)propanal, O-((methylamino)carbonyl)oxime" RELATED [ChemIDplus] synonym: "2-Methyl-2-(methylthio)propionaldehyde O-(methylcarbamoyl)oxime" RELATED [ChemIDplus] synonym: "2-Methyl-2-methylthio-propionaldehyd-O-(N-methyl-carbamoyl)-oxim" RELATED [ChemIDplus] synonym: "2-Methyl-2-methylthio-propionaldehyd-O-(N-methyl-carbamoyl)-oxim" RELATED [COMe] synonym: "2-methyl-N-[(methylcarbamoyl)oxy]-2-(methylsulfanyl)propan-1-imine" EXACT IUPAC_NAME [IUPAC] synonym: "Aldicarb" EXACT [KEGG_COMPOUND] synonym: "aldicarb" EXACT [UniProt] synonym: "aldicarbe" RELATED [ChemIDplus] xref: Beilstein:2046931 {source="Beilstein"} xref: CAS:116-06-3 {source="NIST Chemistry WebBook"} xref: CAS:116-06-3 {source="ChemIDplus"} xref: CAS:116-06-3 {source="KEGG COMPOUND"} xref: KEGG:C11015 xref: LINCS:LSM-20978 xref: MeSH:D000448 xref: NCIt:C49756 xref: Patent:US3217037 xref: PPDB:19 xref: SNOMEDCT:65246003 is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:24852 ! insecticide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H14N2O2S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H14N2O2S/c1-7(2,12-4)5-9-11-6(10)8-3/h5H,1-4H3,(H,8,10)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QGLZXHRNAYXIBU-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "190.26300" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "190.07760" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H]C(=NOC(=O)NC)C(C)(C)SC" xsd:string [Term] id: CHEBI:25555 name: nitrogen atom namespace: chebi_ontology subset: 3_STAR synonym: "7N" RELATED [IUPAC] synonym: "azote" RELATED [IUPAC] synonym: "N" RELATED [IUPAC] synonym: "nitrogen" EXACT IUPAC_NAME [IUPAC] synonym: "nitrogen" RELATED [ChEBI] synonym: "nitrogeno" RELATED [ChEBI] synonym: "Stickstoff" RELATED [ChEBI] xref: MeSH:D009584 xref: NCIt:C61863 xref: SNOMEDCT:257970008 xref: SNOMEDCT:257992007 xref: SNOMEDCT:36012007 xref: WebElements:N is_a: CHEBI:33250 ! atom property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "14.007" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "14.00307" xsd:string [Term] id: CHEBI:25629 name: octadecanoate namespace: chebi_ontology alt_id: CHEBI:231588 def: "A fatty acid anion 18:0 that is the conjugate base of octadecanoic acid (stearic acid). Stearates have a variety of uses in the pharmaceutical industry." [] subset: 3_STAR synonym: "CH3-[CH2]16-COO(-)" RELATED [IUPAC] synonym: "octadecanoate" EXACT IUPAC_NAME [IUPAC] synonym: "octadecanoate" EXACT [UniProt] synonym: "octadecanoic acid, ion(1-)" RELATED [ChemIDplus] synonym: "Stearate" RELATED [KEGG_COMPOUND] synonym: "stearate" RELATED [ChemIDplus] synonym: "stearic acid, ion(1-)" RELATED [ChemIDplus] xref: Beilstein:3590530 {source="Beilstein"} xref: CAS:646-29-7 {source="ChemIDplus"} xref: Gmelin:344065 {source="Gmelin"} xref: KEGG:C01530 xref: MetaCyc:STEARIC_ACID xref: PMID:16401590 {source="Europe PMC"} xref: PMID:19184617 {source="Europe PMC"} xref: PMID:3180776 {source="Europe PMC"} xref: PMID:7452460 {source="Europe PMC"} xref: Reaxys:3590530 {source="Reaxys"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H35O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H36O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-18(19)20/h2-17H2,1H3,(H,19,20)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QIQXTHQIDYTFRH-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "283.470" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "283.26425" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(CCCCCCCCCC)CCCCCCC(=O)[O-]" xsd:string [Term] id: CHEBI:25646 name: octanoate namespace: chebi_ontology def: "A straight-chain saturated fatty acid anion that is the conjugate base of octanoic acid (caprylic acid); believed to block adipogenesis." [] subset: 3_STAR synonym: "1-heptanecarboxylate" RELATED [ChEBI] synonym: "caprilate" RELATED [ChEBI] synonym: "caprylate" RELATED [ChEBI] synonym: "CH3-[CH2]6-COO(-)" RELATED [ChEBI] synonym: "n-caprylate" RELATED [ChEBI] synonym: "n-octanoate" RELATED [ChEBI] synonym: "n-octoate" RELATED [ChEBI] synonym: "n-octylate" RELATED [ChEBI] synonym: "octanoate" EXACT IUPAC_NAME [IUPAC] synonym: "octanoate" EXACT [ChemIDplus] synonym: "octanoate" EXACT [UniProt] synonym: "octanoic acid, ion(1-)" RELATED [ChemIDplus] synonym: "octylate" RELATED [ChEBI] xref: Beilstein:3588079 {source="Beilstein"} xref: CAS:74-81-7 {source="ChemIDplus"} xref: Gmelin:329219 {source="Gmelin"} xref: PMID:11983812 {source="Europe PMC"} xref: Reaxys:3588079 {source="Reaxys"} xref: UM-BBD_compID:c0047 {source="UM-BBD"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H15O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H16O2/c1-2-3-4-5-6-7-8(9)10/h2-7H2,1H3,(H,9,10)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WWZKQHOCKIZLMA-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "143.204" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "143.10775" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(CCCCCC)C(=O)[O-]" xsd:string [Term] id: CHEBI:2567 name: alendronic acid namespace: chebi_ontology def: "A 1,1-bis(phosphonic acid) that is methanebis(phosphonic acid) in which the two methylene hydrogens are replaced by hydroxy and 3-aminopropyl groups." [] subset: 3_STAR synonym: "(4-amino-1-hydroxybutane-1,1-diyl)bis(phosphonic acid)" EXACT IUPAC_NAME [IUPAC] synonym: "(4-Amino-1-hydroxybutylidene)bisphosphonic acid" RELATED [KEGG_COMPOUND] synonym: "acide alendronique" RELATED INN [ChemIDplus] synonym: "acido alendronico" RELATED INN [ChemIDplus] synonym: "acidum alendronicum" RELATED INN [ChemIDplus] synonym: "Alendronate" RELATED [KEGG_COMPOUND] synonym: "Alendronic acid" EXACT [KEGG_COMPOUND] synonym: "alendronic acid" RELATED INN [ChemIDplus] xref: Beilstein:2275403 {source="Beilstein"} xref: CAS:66376-36-1 {source="ChemIDplus"} xref: Drug_Central:112 {source="DrugCentral"} xref: DrugBank:DB00630 xref: HMDB:HMDB0001915 xref: KEGG:C07752 xref: KEGG:D07119 xref: LINCS:LSM-5831 xref: MeSH:D019386 xref: MetaCyc:ALENDRONATE xref: NCIt:C61625 xref: Patent:BE903519 xref: Patent:US4705651 xref: PDBeChem:AHD xref: PMID:12657258 {source="ChEMBL"} xref: PMID:16626694 {source="Europe PMC"} xref: PMID:19630066 {source="Europe PMC"} xref: PMID:24676887 {source="Europe PMC"} xref: PMID:25315260 {source="Europe PMC"} xref: PMID:25442070 {source="Europe PMC"} xref: PMID:25445446 {source="Europe PMC"} xref: PMID:25461393 {source="Europe PMC"} xref: PMID:25577217 {source="Europe PMC"} xref: PMID:25592133 {source="Europe PMC"} xref: PMID:25595570 {source="Europe PMC"} xref: PMID:25603732 {source="Europe PMC"} xref: PMID:25619515 {source="Europe PMC"} xref: PMID:25636638 {source="Europe PMC"} xref: PMID:25639838 {source="Europe PMC"} xref: Reaxys:2275403 {source="Reaxys"} xref: SNOMEDCT:391730008 xref: SNOMEDCT:421552005 xref: Wikipedia:Alendronic_acid is_a: EFO:0004416 ! acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H13NO7P2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H13NO7P2/c5-3-1-2-4(6,13(7,8)9)14(10,11)12/h6H,1-3,5H2,(H2,7,8,9)(H2,10,11,12)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OGSPWJRAVKPPFI-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "249.09600" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "249.01673" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NCCCC(O)(P(O)(O)=O)P(O)(O)=O" xsd:string [Term] id: CHEBI:25675 name: oligomycin namespace: chebi_ontology def: "Any of the 26-membered ring macrolides produced by Streptomyces species that can be toxic to other organisms through their ability to inhibit mitochondrial membrane-bound ATP synthases." [] subset: 3_STAR synonym: "oligomycins" RELATED [ChEBI] xref: Wikipedia:Oligomycin is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C43H64O10R5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "740.964" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "740.44995" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C@@H]1([C@H](CC([C@]2(O1)C([C@@H]3OC(C=C[C@H](C)[C@@H](O)[C@H](C)C(=O)[C@H](C)[C@@H](O)[C@H](C)C([C@@]([C@@H](O)[C@H](C)CC=CC=C[C@@H](CC[C@@H]([C@H]3C)O2)CC)(*)C)=O)=O)(*)*)=*)C)C[C@H](O)*" xsd:string [Term] id: CHEBI:25682 name: N(omega),N'(omega)-dimethyl-L-arginine namespace: chebi_ontology alt_id: CHEBI:39780 def: "A L-arginine derivative having two methyl groups at the N(omega)- and N'(omega)-positions" [] subset: 3_STAR synonym: "(2S)-2-amino-5-(N',N''-dimethylcarbamimidamido)pentanoic acid" RELATED [IUPAC] synonym: "(S)-2-amino-5-(N',N''-dimethylguanidino)pentanoic acid" RELATED [ChEBI] synonym: "Guanidino-N(1),N(2)-dimethylarginine" RELATED [ChemIDplus] synonym: "N(3),N(4)-dimethyl-L-arginine" RELATED [ChEBI] synonym: "N(3),N(4)-dimethylarginine" RELATED [ChEBI] synonym: "N(5)-(N,N'-dimethylamidino)-L-ornithine" RELATED [ChEBI] synonym: "N(5)-(N,N'-dimethylcarbamimidoyl)-L-ornithine" EXACT IUPAC_NAME [IUPAC] synonym: "N(5)-(N,N'-dimethylcarbamimidoyl)-L-ornithine" RELATED [ChEBI] synonym: "N(5)-[bis(methylamino)methylene]-L-ornithine" RELATED [ChEBI] synonym: "N(G),N'(G)-dimethyl-L-arginine" RELATED [ChEBI] synonym: "N(G),N'(G)-dimethylarginine" RELATED [ChEBI] synonym: "N(G1),N(G2)-Dimethylarginine" RELATED [ChemIDplus] synonym: "N,N'-Dimethylarginine" RELATED [ChemIDplus] synonym: "N5-((methylamino)(methylimino)methyl)-L-ornithine" RELATED [ChemIDplus] synonym: "SDMA" RELATED [HMDB] synonym: "symmetric dimethylarginine" RELATED [ChEBI] xref: Beilstein:7973080 {source="Beilstein"} xref: CAS:30344-00-4 {source="ChemIDplus"} xref: DrugBank:DB02302 xref: HMDB:HMDB0003334 xref: MeSH:C018524 xref: PDBeChem:2MR xref: PMID:11437716 {source="Europe PMC"} xref: PMID:11950212 {source="Europe PMC"} xref: PMID:12466365 {source="Europe PMC"} xref: PMID:12782025 {source="Europe PMC"} xref: PMID:15494416 {source="Europe PMC"} xref: PMID:15827267 {source="Europe PMC"} xref: PMID:16182327 {source="Europe PMC"} xref: PMID:16380646 {source="Europe PMC"} xref: PMID:17709427 {source="Europe PMC"} xref: PMID:18515076 {source="Europe PMC"} xref: PMID:18815077 {source="Europe PMC"} xref: PMID:19668105 {source="Europe PMC"} xref: PMID:19803415 {source="Europe PMC"} xref: PMID:20936901 {source="Europe PMC"} xref: PMID:21278301 {source="Europe PMC"} xref: PMID:21303648 {source="Europe PMC"} xref: Reaxys:7973080 {source="Reaxys"} is_a: CHEBI:33709 ! amino acid is_a: CHEBI:86468 ! dimethylarginine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H18N4O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H18N4O2/c1-10-8(11-2)12-5-3-4-6(9)7(13)14/h6H,3-5,9H2,1-2H3,(H,13,14)(H2,10,11,12)/t6-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HVPFXCBJHIIJGS-LURJTMIESA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "202.25410" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "202.14298" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN\\C(NCCC[C@H](N)C(O)=O)=N\\C" xsd:string [Term] id: CHEBI:25705 name: organochlorine insecticide namespace: chebi_ontology def: "Any organochlorine pesticide that has been used as an insecticide." [] subset: 3_STAR synonym: "chlororganische Insektizide" RELATED [ChEBI] synonym: "organochloride insecticide" RELATED [ChEBI] synonym: "organochloride insecticides" RELATED [ChEBI] synonym: "organochlorine insecticides" RELATED [ChEBI] synonym: "Organochlorinsektizid" RELATED [ChEBI] xref: SNOMEDCT:116366002 is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:33286 ! agrochemical [Term] id: CHEBI:25722 name: orotidine namespace: chebi_ontology def: "A nucleoside formed by attaching orotic acid to a ribose ring via a beta-N(1)-glycosidic bond." [] subset: 3_STAR synonym: "3-Ribofuranosylorotic acid" RELATED [ChemIDplus] synonym: "6-Carboxyuridine" RELATED [ChemIDplus] xref: CAS:314-50-1 {source="ChemIDplus"} xref: PMID:14853953 {source="Europe PMC"} xref: PMID:23555823 {source="Europe PMC"} xref: Reaxys:47461 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H12N2O8" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H12N2O8/c13-2-4-6(15)7(16)8(20-4)12-3(9(17)18)1-5(14)11-10(12)19/h1,4,6-8,13,15-16H,2H2,(H,17,18)(H,11,14,19)/t4-,6-,7-,8-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FKCRAVPPBFWEJD-XVFCMESISA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "288.21090" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "288.05937" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC[C@H]1O[C@H]([C@H](O)[C@@H]1O)n1c(cc(=O)[nH]c1=O)C(O)=O" xsd:string [Term] id: CHEBI:25812 name: ozone namespace: chebi_ontology def: "An elemental molecule with formula O3. An explosive, pale blue gas (b.p. -112degreeC) that has a characteristic, pungent odour, it is continuously produced in the upper atmosphere by the action of solar ultraviolet radiation on atmospheric oxygen. It is an antimicrobial agent used in the production of bottled water, as well as in the treatment of meat, poultry and other foodstuffs." [] subset: 3_STAR synonym: "[OO2]" RELATED [MolBase] synonym: "O3" RELATED [ChEBI] synonym: "O3" RELATED [IUPAC] synonym: "Ozon" RELATED [ChEBI] synonym: "ozone" EXACT [ChEBI] synonym: "ozone" EXACT IUPAC_NAME [IUPAC] synonym: "ozono" RELATED [ChEBI] synonym: "trioxygen" EXACT IUPAC_NAME [IUPAC] synonym: "trioxygene" RELATED [ChEBI] synonym: "Trisauerstoff" RELATED [ChEBI] xref: CAS:10028-15-6 {source="NIST Chemistry WebBook"} xref: CAS:10028-15-6 {source="ChemIDplus"} xref: Gmelin:1101 {source="Gmelin"} xref: HMDB:HMDB0035409 xref: MolBase:931 xref: PMID:10205911 {source="Europe PMC"} xref: PMID:10226494 {source="Europe PMC"} xref: PMID:10552743 {source="Europe PMC"} xref: PMID:11029342 {source="Europe PMC"} xref: PMID:11203434 {source="Europe PMC"} xref: PMID:11568152 {source="Europe PMC"} xref: PMID:12509241 {source="Europe PMC"} xref: PMID:15598576 {source="Europe PMC"} xref: PMID:15963550 {source="Europe PMC"} xref: PMID:1717074 {source="Europe PMC"} xref: PMID:17674823 {source="Europe PMC"} xref: PMID:18250191 {source="Europe PMC"} xref: PMID:18699586 {source="Europe PMC"} xref: PMID:19519548 {source="Europe PMC"} xref: PMID:19580672 {source="Europe PMC"} xref: PMID:19723209 {source="Europe PMC"} xref: PMID:19827485 {source="Europe PMC"} xref: PMID:20477724 {source="Europe PMC"} xref: PMID:23488636 {source="Europe PMC"} xref: PMID:23501341 {source="Europe PMC"} xref: PMID:23517299 {source="Europe PMC"} xref: PMID:23556239 {source="Europe PMC"} xref: PMID:24001808 {source="Europe PMC"} xref: PMID:24176344 {source="Europe PMC"} xref: PMID:24188305 {source="Europe PMC"} xref: PMID:7763188 {source="Europe PMC"} xref: PMID:8255146 {source="Europe PMC"} xref: PMID:9202716 {source="Europe PMC"} xref: Reaxys:4921393 {source="Reaxys"} xref: Wikipedia:Ozone is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/O3/c1-3-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CBENFWSGALASAD-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "47.99820" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "47.98474" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-][O+]=O" xsd:string [Term] id: CHEBI:25858 name: 1,7-dimethylxanthine namespace: chebi_ontology alt_id: CHEBI:34067 def: "A dimethylxanthine having the two methyl groups located at positions 1 and 7. It is a metabolite of caffeine and theobromine in animals." [] subset: 3_STAR synonym: "1,7-dimethyl-3,7-dihydro-1H-purine-2,6-dione" EXACT IUPAC_NAME [IUPAC] synonym: "1,7-Dimethylxanthine" EXACT [KEGG_COMPOUND] synonym: "1,7-dimethylxanthine" EXACT [UniProt] synonym: "3,7-Dihydro-1,7-dimethyl-1H-purine-2,6-dione" RELATED [ChemIDplus] synonym: "p-Xanthine" RELATED [ChemIDplus] synonym: "Paraxanthine" RELATED [KEGG_COMPOUND] xref: CAS:611-59-6 {source="ChemIDplus"} xref: CAS:611-59-6 {source="KEGG COMPOUND"} xref: HMDB:HMDB0001860 xref: KEGG:C13747 xref: LINCS:LSM-20962 xref: MetaCyc:1-7-DIMETHYLXANTHINE xref: PMID:10416066 {source="Europe PMC"} xref: PMID:10572151 {source="Europe PMC"} xref: PMID:10593655 {source="Europe PMC"} xref: PMID:10877011 {source="Europe PMC"} xref: PMID:11090584 {source="Europe PMC"} xref: PMID:1128545 {source="Europe PMC"} xref: PMID:12110375 {source="Europe PMC"} xref: PMID:16870158 {source="Europe PMC"} xref: PMID:17655324 {source="Europe PMC"} xref: PMID:18621927 {source="Europe PMC"} xref: PMID:20004571 {source="Europe PMC"} xref: PMID:20614853 {source="Europe PMC"} xref: PMID:20853468 {source="Europe PMC"} xref: PMID:21380987 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: PMID:2882985 {source="Europe PMC"} xref: PMID:3371146 {source="Europe PMC"} xref: PMID:3798364 {source="Europe PMC"} xref: PMID:7920690 {source="Europe PMC"} xref: PMID:7977734 {source="Europe PMC"} xref: PMID:8529334 {source="Europe PMC"} xref: PMID:9920286 {source="Europe PMC"} xref: Reaxys:197907 {source="Reaxys"} xref: Wikipedia:Paraxanthine is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H8N4O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H8N4O2/c1-10-3-8-5-4(10)6(12)11(2)7(13)9-5/h3H,1-2H3,(H,9,13)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QUNWUDVFRNGTCO-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "180.16400" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "180.06473" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cn1cnc2[nH]c(=O)n(C)c(=O)c12" xsd:string [Term] id: CHEBI:2596 name: alliin namespace: chebi_ontology def: "An L-alanine derivative in which one of the methyl hydrogens of L-alanine has been replaced by an (S)-allylsulfinyl group." [] subset: 3_STAR synonym: "(+)-L-Alliin" RELATED [MetaCyc] synonym: "(S)-3-(Allylsulphinyl)-L-alanine" RELATED [MetaCyc] synonym: "(S)-S-Allyl-L-cysteine sulfoxide" RELATED [MetaCyc] synonym: "3-(Allylsulfinyl)alanine" RELATED [MetaCyc] synonym: "3-[(S)-prop-2-ene-1-sulfinyl]-L-alanine" EXACT IUPAC_NAME [IUPAC] synonym: "Alliin" EXACT [KEGG_COMPOUND] synonym: "S-Allyl-L-cystein-S-oxide" RELATED [MetaCyc] synonym: "S-allyl-L-cysteine sulfoxide" RELATED [ChEBI] xref: AGR:IND601136412 {source="Europe PMC"} xref: AGR:IND601322842 {source="Europe PMC"} xref: CAS:556-27-4 {source="KEGG COMPOUND"} xref: HMDB:HMDB0033592 xref: KEGG:C08265 xref: KNApSAcK:C00001336 xref: MetaCyc:CPD-9269 xref: PMID:16999975 {source="Europe PMC"} xref: PMID:17262437 {source="Europe PMC"} xref: PMID:17702402 {source="Europe PMC"} xref: PMID:18034739 {source="Europe PMC"} xref: PMID:18172887 {source="Europe PMC"} xref: PMID:19262997 {source="Europe PMC"} xref: PMID:19271323 {source="Europe PMC"} xref: PMID:19949059 {source="Europe PMC"} xref: PMID:20015835 {source="Europe PMC"} xref: PMID:20091890 {source="Europe PMC"} xref: PMID:21391887 {source="Europe PMC"} xref: PMID:22606693 {source="Europe PMC"} xref: PMID:23158347 {source="Europe PMC"} xref: PMID:24453416 {source="Europe PMC"} xref: PMID:24657412 {source="Europe PMC"} xref: PMID:25372692 {source="Europe PMC"} xref: PMID:25577881 {source="Europe PMC"} xref: PMID:25620969 {source="Europe PMC"} xref: PMID:26345717 {source="Europe PMC"} xref: PMID:26374695 {source="Europe PMC"} xref: PMID:26638713 {source="Europe PMC"} xref: PMID:26934847 {source="Europe PMC"} xref: Reaxys:6767615 {source="Reaxys"} xref: Wikipedia:Alliin is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H11NO3S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H11NO3S/c1-2-3-11(10)4-5(7)6(8)9/h2,5H,1,3-4,7H2,(H,8,9)/t5-,11-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XUHLIQGRKRUKPH-DYEAUMGKSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "177.223" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "177.04596" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[S@@](C[C@@H](C(O)=O)N)(CC=C)=O" xsd:string [Term] id: CHEBI:25982 name: phenylacetylglutamine namespace: chebi_ontology subset: 1_STAR is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:26020 name: phosphate namespace: chebi_ontology def: "Salts and esters of phosphoric and oligophosphoric acids and their chalcogen analogues. In inorganic chemistry, the term is also used to describe anionic coordination entities with phosphorus as central atom." [] subset: 3_STAR synonym: "phosphates" EXACT IUPAC_NAME [IUPAC] synonym: "phosphates" RELATED [ChEBI] xref: MeSH:D010710 xref: SNOMEDCT:259296007 is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:26130 name: biological pigment namespace: chebi_ontology def: "An endogenous molecular entity that results in a colour of an organism as the consequence of the selective absorption of light." [] subset: 3_STAR synonym: "pigments" RELATED [ChEBI] xref: AAO:0000430 xref: CL:0000147 xref: MAT:0000159 xref: MeSH:D010858 xref: MFO:0003360 xref: NCIt:C747 xref: NIFSTD:sao1231384859 xref: SNOMEDCT:65863008 xref: ZFA:0009090 is_a: CHEBI:24432 ! biological role is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0002416 ! integumental system [Term] id: CHEBI:26155 name: plant growth regulator namespace: chebi_ontology def: "A chemical, natural or artificial, that can affect the rate of growth of a plant." [] subset: 3_STAR synonym: "plant growth regulators" RELATED [ChEBI] xref: MeSH:D010937 xref: SNOMEDCT:67036009 is_a: CHEBI:24432 ! biological role is_a: CHEBI:51086 ! chemical role relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:26216 name: potassium atom namespace: chebi_ontology subset: 3_STAR synonym: "19K" RELATED [IUPAC] synonym: "K" RELATED [IUPAC] synonym: "Kalium" RELATED [ChemIDplus] synonym: "kalium" RELATED [IUPAC] synonym: "potasio" RELATED [ChEBI] synonym: "potassium" EXACT IUPAC_NAME [IUPAC] synonym: "potassium" RELATED [ChEBI] xref: CAS:7440-09-7 {source="ChemIDplus"} xref: DrugBank:DB01345 xref: KEGG:C00238 xref: MeSH:D011188 xref: NCIt:C765 xref: SNOMEDCT:88480006 xref: WebElements:K is_a: CHEBI:33250 ! atom relationship: has_role CHEBI:27027 ! micronutrient property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "K" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/K" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ZLMJMSJWJFRBEC-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "39.09830" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "38.96371" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[K]" xsd:string [Term] id: CHEBI:2637 name: amikacin namespace: chebi_ontology def: "An amino cyclitol glycoside that is kanamycin A acylated at the N-1 position by a 4-amino-2-hydroxybutyryl group." [] subset: 3_STAR synonym: "(2S)-4-amino-N-[(1R,2S,3S,4R,5S)-5-amino-2-(3-amino-3-deoxy-alpha-D-glucopyranosyloxy)-4-(6-amino-6-deoxy-alpha-D-glucopyranosyloxy)-3-hydroxycyclohexyl]-2-hydroxybutanamide" EXACT IUPAC_NAME [IUPAC] synonym: "1-N-(L(-)-gamma-amino-alpha-hydroxybutyryl)kanamycin A" RELATED [ChemIDplus] synonym: "Amikacin" EXACT [KEGG_COMPOUND] synonym: "amikacin" RELATED INN [ChemIDplus] synonym: "amikacina" RELATED INN [ChemIDplus] synonym: "amikacine" RELATED INN [ChemIDplus] synonym: "amikacinum" RELATED INN [ChemIDplus] synonym: "O-3-amino-3-deoxy-alpha-D-glucopyranosyl-(1->4)-O-(6-amino-6-deoxy-alpha-D-glucopyranosyl-(1->6))-N(3)-(4-amino-L-2-hydroxybutyryl)-2-deoxy-L-streptamine" RELATED [ChemIDplus] xref: Beilstein:5915117 {source="Beilstein"} xref: CAS:37517-28-5 {source="ChemIDplus"} xref: CAS:37517-28-5 {source="KEGG COMPOUND"} xref: Drug_Central:157 {source="DrugCentral"} xref: DrugBank:DB00479 xref: HMDB:HMDB0014622 xref: KEGG:C06820 xref: KEGG:D02543 xref: LINCS:LSM-5935 xref: MeSH:D000583 xref: MetaCyc:CPD-14197 xref: NCIt:C61615 xref: Patent:DE2234315 xref: Patent:US3781268 xref: PMID:11744283 {source="Europe PMC"} xref: PMID:15305513 {source="Europe PMC"} xref: PMID:17365906 {source="Europe PMC"} xref: PMID:19495517 {source="Europe PMC"} xref: PMID:19752274 {source="Europe PMC"} xref: PMID:20195673 {source="Europe PMC"} xref: PMID:25296102 {source="Europe PMC"} xref: PMID:25327505 {source="Europe PMC"} xref: PMID:25339395 {source="Europe PMC"} xref: PMID:25630642 {source="Europe PMC"} xref: PMID:8622103 {source="Europe PMC"} xref: PMID:8622117 {source="Europe PMC"} xref: PMID:9327246 {source="Europe PMC"} xref: Reaxys:5915117 {source="Reaxys"} xref: SNOMEDCT:387266001 xref: SNOMEDCT:48836000 xref: Wikipedia:Amikacin is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:33281 ! antimicrobial agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H43N5O13" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C22H43N5O13/c23-2-1-8(29)20(36)27-7-3-6(25)18(39-22-16(34)15(33)13(31)9(4-24)37-22)17(35)19(7)40-21-14(32)11(26)12(30)10(5-28)38-21/h6-19,21-22,28-35H,1-5,23-26H2,(H,27,36)/t6-,7+,8-,9+,10+,11-,12+,13+,14+,15-,16+,17-,18+,19-,21+,22+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LKCWBDHBTVXHDL-RMDFUYIESA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "585.60272" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "585.28574" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NCC[C@H](O)C(=O)N[C@@H]1C[C@H](N)[C@@H](O[C@H]2O[C@H](CN)[C@@H](O)[C@H](O)[C@H]2O)[C@H](O)[C@H]1O[C@H]1O[C@H](CO)[C@@H](O)[C@H](N)[C@H]1O" xsd:string [Term] id: CHEBI:26490 name: quinate namespace: chebi_ontology def: "A cyclitol carboxylic acid anion that is conjugate base of quinic acid." [] subset: 3_STAR is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:26536 name: retinoic acid namespace: chebi_ontology def: "A retinoid consisting of 3,7-dimethylnona-2,4,6,8-tetraenoic acid substituted at position 9 by a 2,6,6-trimethylcyclohex-1-en-1-yl group (geometry of the four exocyclic double bonds is not specified)." [] subset: 3_STAR synonym: "3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoic acid" EXACT IUPAC_NAME [IUPAC] xref: LINCS:LSM-2135 xref: NCIt:C68301 xref: PMID:24506204 {source="Europe PMC"} is_a: CHEBI:24913 ! isoprenoid is_a: EFO:0004416 ! acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H28O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H28O2/c1-15(8-6-9-16(2)14-19(21)22)11-12-18-17(3)10-7-13-20(18,4)5/h6,8-9,11-12,14H,7,10,13H2,1-5H3,(H,21,22)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SHGAZHPCJJPHSC-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "300.43512" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "300.20893" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C=CC1=C(C)CCCC1(C)C)=CC=CC(C)=CC(O)=O" xsd:string [Term] id: CHEBI:2663 name: amiodarone namespace: chebi_ontology def: "A member of the class of 1-benzofurans that is 1-benzofuran substituted by a butyl group at position 2 and a 4-[2-(diethylamino)ethoxy]-3,5-diiodobenzoyl group at position 3. It is a cardiovascular drug used for the treatment of cardiac dysrhythmias." [] subset: 3_STAR synonym: "(2-butyl-1-benzofuran-3-yl){4-[2-(diethylamino)ethoxy]-3,5-diiodophenyl}methanone" EXACT IUPAC_NAME [IUPAC] synonym: "2-Butyl-3-(3,5-diiodo-4-(2-diethylaminoethoxy)benzoyl)benzofuran" RELATED [ChemIDplus] synonym: "2-Butyl-3-benzofuranyl 4-(2-(diethylamino)ethoxy)-3,5-diiodophenyl ketone" RELATED [ChemIDplus] synonym: "2-n-Butyl-3',5'-diiodo-4'-N-diethylaminoethoxy-3-benzoylbenzofuran" RELATED [ChemIDplus] synonym: "amiodarona" RELATED INN [ChemIDplus] synonym: "Amiodarone" EXACT [KEGG_COMPOUND] synonym: "amiodaronum" RELATED INN [ChemIDplus] xref: Beilstein:1271711 {source="Beilstein"} xref: CAS:1951-25-3 {source="ChemIDplus"} xref: CAS:1951-25-3 {source="KEGG COMPOUND"} xref: Drug_Central:176 {source="DrugCentral"} xref: DrugBank:DB01118 xref: HMDB:HMDB0015250 xref: KEGG:C06823 xref: KEGG:D02910 xref: LINCS:LSM-2379 xref: Patent:CA2826272 xref: Patent:TW201400111 xref: PMID:10188629 {source="Europe PMC"} xref: PMID:16479044 {source="Europe PMC"} xref: PMID:18368867 {source="Europe PMC"} xref: Wikipedia:Amiodarone is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C25H29I2NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C25H29I2NO3/c1-4-7-11-22-23(18-10-8-9-12-21(18)31-22)24(29)17-15-19(26)25(20(27)16-17)30-14-13-28(5-2)6-3/h8-10,12,15-16H,4-7,11,13-14H2,1-3H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IYIKLHRQXLHMJQ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "645.31160" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "645.02368" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCc1oc2ccccc2c1C(=O)c1cc(I)c(OCCN(CC)CC)c(I)c1" xsd:string [Term] id: CHEBI:2666 name: amitriptyline namespace: chebi_ontology def: "An organic tricyclic compound that is 10,11-dihydro-5H-dibenzo[a,d][7]annulene substituted by a 3-(dimethylamino)propylidene group at position 5." [] subset: 3_STAR synonym: "10,11-dihydro-5-(gamma-dimethylaminopropylidene)-5H-dibenzo(a,d)cycloheptene" RELATED [NIST_Chemistry_WebBook] synonym: "10,11-dihydro-N,N-dimethyl-5H-dibenzo(a,d)heptalene-Delta(5),gamma-propylamine" RELATED [NIST_Chemistry_WebBook] synonym: "3-(10,11-dihydro-5H-dibenzo(a,d)cyclohepten-5-ylidene)-N,N-dimethyl-1-propanamine" RELATED [NIST_Chemistry_WebBook] synonym: "3-(10,11-dihydro-5H-dibenzo[a,d][7]annulen-5-ylidene)-N,N-dimethylpropan-1-amine" EXACT IUPAC_NAME [IUPAC] synonym: "3-(10,11-dihydro-5H-dibenzo[a,d]cyclohepten-5-ylidene)-N,N-dimethylpropan-1-amine" RELATED [ChEBI] synonym: "5-(3-dimethylaminopropylidene)-10,11-dihydro-5H-dibenzo(a,d)cycloheptatriene" RELATED [NIST_Chemistry_WebBook] synonym: "5-(3-dimethylaminopropylidene)-10,11-dihydro-5H-dibenzo(a,d)cycloheptene" RELATED [NIST_Chemistry_WebBook] synonym: "5-(gamma-dimethylaminopropylidene)-5H-dibenzo[a,d][1,4]cycloheptadiene" RELATED [NIST_Chemistry_WebBook] synonym: "Amitriptylin" RELATED [ChemIDplus] synonym: "Amitriptyline" EXACT [KEGG_COMPOUND] xref: Beilstein:2217885 {source="Beilstein"} xref: CAS:50-48-6 {source="NIST Chemistry WebBook"} xref: CAS:50-48-6 {source="ChemIDplus"} xref: CAS:50-48-6 {source="KEGG COMPOUND"} xref: Drug_Central:180 {source="DrugCentral"} xref: DrugBank:DB00321 xref: HMDB:HMDB0014466 xref: KEGG:C06824 xref: KEGG:D07448 xref: LINCS:LSM-3190 xref: MeSH:D000639 xref: NCIt:C62005 xref: Patent:CN101780063 xref: Patent:WO2011089289 xref: PMID:15554244 {source="Europe PMC"} xref: PMID:18359012 {source="Europe PMC"} xref: PMID:24447704 {source="Europe PMC"} xref: Reaxys:2217885 {source="Reaxys"} xref: SNOMEDCT:372726002 xref: SNOMEDCT:40589005 xref: VSDB:2962 xref: Wikipedia:Amitriptyline is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:35640 ! adrenergic uptake inhibitor property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H23N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H23N/c1-21(2)15-7-12-20-18-10-5-3-8-16(18)13-14-17-9-4-6-11-19(17)20/h3-6,8-12H,7,13-15H2,1-2H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KRMDCWKBEZIMAB-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "277.40336" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "277.18305" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN(C)CCC=C1c2ccccc2CCc2ccccc12" xsd:string [Term] id: CHEBI:26708 name: sodium atom namespace: chebi_ontology subset: 3_STAR synonym: "11Na" RELATED [IUPAC] synonym: "Na" RELATED [IUPAC] synonym: "Natrium" RELATED [ChemIDplus] synonym: "natrium" RELATED [IUPAC] synonym: "sodio" RELATED [ChemIDplus] synonym: "sodium" EXACT IUPAC_NAME [IUPAC] synonym: "sodium" RELATED [ChEBI] xref: CAS:7440-23-5 {source="ChemIDplus"} xref: Gmelin:16221 {source="Gmelin"} xref: KEGG:C01330 xref: WebElements:Na is_a: CHEBI:33250 ! atom property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "Na" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/Na" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KEAYESYHFKHZAL-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "22.98977" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "22.98977" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Na]" xsd:string [Term] id: CHEBI:26710 name: sodium chloride namespace: chebi_ontology def: "An inorganic chloride salt having sodium(1+) as the counterion." [] subset: 3_STAR synonym: "chlorure de sodium" RELATED [ChEBI] synonym: "cloruro sodico" RELATED [ChEBI] synonym: "common salt" RELATED [ChemIDplus] synonym: "halite" RELATED [NIST_Chemistry_WebBook] synonym: "Kochsalz" RELATED [ChEBI] synonym: "NaCl" RELATED [IUPAC] synonym: "natrii chloridum" RELATED [ChEBI] synonym: "Natriumchlorid" RELATED [NIST_Chemistry_WebBook] synonym: "rock salt" RELATED [ChemIDplus] synonym: "salt" RELATED [ChemIDplus] synonym: "sodium chloride" EXACT [ChEBI] synonym: "sodium chloride" EXACT IUPAC_NAME [IUPAC] synonym: "table salt" RELATED [ChemIDplus] xref: Beilstein:3534976 {source="Beilstein"} xref: CAS:7647-14-5 {source="ChemIDplus"} xref: CAS:7647-14-5 {source="NIST Chemistry WebBook"} xref: CAS:7647-14-5 {source="KEGG COMPOUND"} xref: ChEMBL:774525 xref: ChemIDplus:7647-14-5 xref: Gmelin:13673 {source="Gmelin"} xref: KEGG:C13563 xref: KEGG:D02056 xref: MeSH:D012965 xref: MetaCyc:NACL xref: NCIt:C29974 xref: NIST Chemistry WebBook:7647-14-5 xref: PPDB:595 xref: Reaxys:3534976 {source="Reaxys"} xref: SNOMEDCT:387390002 xref: SNOMEDCT:70379000 xref: Wikipedia:Sodium_Chloride is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "ClNa" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/ClH.Na/h1H;/q;+1/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FAPWRFPIFSIZLT-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "58.44247" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "57.95862" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Na+].[Cl-]" xsd:string [Term] id: CHEBI:26711 name: sodium cholate namespace: chebi_ontology subset: 3_STAR synonym: "cholic acid, monosodium salt" RELATED [ChemIDplus] synonym: "sodium 3alpha,7alpha,12alpha-trihydroxy-5beta-cholan-24-oate" EXACT IUPAC_NAME [IUPAC] synonym: "sodium cholate" EXACT [ChemIDplus] xref: Beilstein:4289807 "Beilstein Registry Number" xref: Beilstein:4289807 {source="Beilstein"} xref: CAS:361-09-1 {source="ChemIDplus"} xref: ChemIDplus:361-09-1 "CAS Registry Number" xref: MeSH:D020358 is_a: CHEBI:35341 ! steroid is_a: EFO:0004415 ! ionic salt relationship: has_role EFO:0004365 ! personality trait property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C24H39NaO5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C24H40O5.Na/c1-13(4-7-21(28)29)16-5-6-17-22-18(12-20(27)24(16,17)3)23(2)9-8-15(25)10-14(23)11-19(22)26;/h13-20,22,25-27H,4-12H2,1-3H3,(H,28,29);/q;+1/p-1/t13-,14+,15-,16-,17+,18+,19-,20+,22+,23+,24-;/m1./s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NRHMKIHPTBHXPF-TUJRSCDTSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "430.55323" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "430.26952" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Na+].[H][C@@]12C[C@H](O)CC[C@]1(C)[C@@]1([H])C[C@H](O)[C@]3(C)[C@]([H])(CC[C@@]3([H])[C@]1([H])[C@H](O)C2)[C@H](C)CCC([O-])=O" xsd:string [Term] id: CHEBI:2676 name: amoxicillin namespace: chebi_ontology alt_id: CHEBI:133770 def: "A penicillin in which the substituent at position 6 of the penam ring is a 2-amino-2-(4-hydroxyphenyl)acetamido group." [] subset: 3_STAR synonym: "(2S,5R,6R)-6-{[(2R)-2-amino-2-(4-hydroxyphenyl)acetyl]amino}-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylic acid" RELATED [IUPAC] synonym: "6-(p-hydroxy-alpha-aminophenylacetamido)penicillanic acid" RELATED [ChemIDplus] synonym: "6beta-[(2R)-2-amino-2-(4-hydroxyphenyl)acetamido]-2,2-dimethylpenam-3alpha-carboxylic acid" EXACT IUPAC_NAME [IUPAC] synonym: "alpha-amino-p-hydroxybenzylpenicillin" RELATED [ChemIDplus] synonym: "Amolin" RELATED BRAND_NAME [DrugBank] synonym: "Amopenixin" RELATED BRAND_NAME [DrugBank] synonym: "amoxicilina" RELATED INN [ChemIDplus] synonym: "Amoxicillin" EXACT [KEGG_COMPOUND] synonym: "amoxicillin" RELATED INN [KEGG_DRUG] synonym: "Amoxicillin anhydrous" RELATED [KEGG_COMPOUND] synonym: "amoxicilline" RELATED INN [ChemIDplus] synonym: "amoxicillinum" RELATED INN [ChemIDplus] synonym: "amoxycilin" RELATED [ChEBI] synonym: "amoxycillin" RELATED [ChemIDplus] synonym: "AMPC" RELATED BRAND_NAME [DrugBank] synonym: "AX" RELATED [ChEBI] synonym: "Clamoxyl" RELATED BRAND_NAME [ChemIDplus] synonym: "Moxal" RELATED BRAND_NAME [DrugBank] synonym: "p-hydroxyampicillin" RELATED [ChemIDplus] xref: Beilstein:4274654 {source="Beilstein"} xref: CAS:26787-78-0 {source="ChemIDplus"} xref: CAS:26787-78-0 {source="KEGG COMPOUND"} xref: Drug_Central:192 {source="DrugCentral"} xref: DrugBank:DB01060 xref: HMDB:HMDB0015193 xref: KEGG:C06827 xref: KEGG:D07452 xref: LINCS:LSM-5654 xref: MeSH:D000658 xref: NCIt:C237 xref: Patent:DE1942693 xref: Patent:GB1241844 xref: Patent:GB978178 xref: Patent:US3192198 xref: PMID:10930630 {source="Europe PMC"} xref: PMID:11431418 {source="Europe PMC"} xref: PMID:11906332 {source="Europe PMC"} xref: PMID:12569987 {source="Europe PMC"} xref: PMID:12833570 {source="Europe PMC"} xref: PMID:12850488 {source="Europe PMC"} xref: PMID:16033609 {source="Europe PMC"} xref: PMID:2083978 {source="Europe PMC"} xref: PMID:24595455 {source="Europe PMC"} xref: PMID:24631718 {source="Europe PMC"} xref: PMID:24759068 {source="Europe PMC"} xref: PMID:25998949 {source="Europe PMC"} xref: PMID:27731424 {source="Europe PMC"} xref: PMID:28987997 {source="Europe PMC"} xref: PMID:29017833 {source="Europe PMC"} xref: Reaxys:4274654 {source="Reaxys"} xref: SNOMEDCT:27658006 xref: SNOMEDCT:372687004 xref: VSDB:1741 xref: Wikipedia:Amoxicillin is_a: CHEBI:35627 ! beta-lactam relationship: has_role CHEBI:33281 ! antimicrobial agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C16H19N3O5S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C16H19N3O5S/c1-16(2)11(15(23)24)19-13(22)10(14(19)25-16)18-12(21)9(17)7-3-5-8(20)6-4-7/h3-6,9-11,14,20H,17H2,1-2H3,(H,18,21)(H,23,24)/t9-,10-,11+,14-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LSQZJLSUYDQPKJ-NJBDSQKTSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "365.40400" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "365.10454" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]12SC(C)(C)[C@@H](N1C(=O)[C@H]2NC(=O)[C@H](N)c1ccc(O)cc1)C(O)=O" xsd:string [Term] id: CHEBI:26764 name: steroid hormone namespace: chebi_ontology def: "Any steroid that acts as hormone." [] subset: 3_STAR synonym: "hormona esteroide" RELATED [ChEBI] synonym: "hormonas esteroideas" RELATED [ChEBI] synonym: "hormone steroide" RELATED [ChEBI] synonym: "hormones steroides" RELATED [ChEBI] synonym: "steroid hormones" RELATED [ChEBI] synonym: "Steroidhormon" RELATED [ChEBI] synonym: "Steroidhormone" RELATED [ChEBI] xref: MeSH:D012739 xref: NCIt:C2289 xref: SNOMEDCT:112113009 is_a: CHEBI:35341 ! steroid relationship: has_role EFO:0001824 ! hormone role [Term] id: CHEBI:2682 name: amphotericin B namespace: chebi_ontology alt_id: CHEBI:106303 alt_id: CHEBI:566395 def: "A macrolide antibiotic used to treat potentially life-threatening fungal infections." [] subset: 3_STAR synonym: "(1R,3S,5R,6R,9R,11R,15S,16R,17R,18S,19E,21E,23E,25E,27E,29E,31E,33R,35S,36R,37S)-33-[(3-amino-3,6-dideoxy-beta-D-mannopyranosyl)oxy]-1,3,5,6,9,11,17,37-octahydroxy-15,16,18-trimethyl-13-oxo-14,39-dioxabicyclo[33.3.1]nonatriaconta-19,21,23,25,27,29,31-heptaene-36-carboxylic acid" EXACT IUPAC_NAME [IUPAC] synonym: "amfotericina B" RELATED INN [ChemIDplus] synonym: "AMPH-B" RELATED [DrugBank] synonym: "amphotericin B" RELATED INN [KEGG_DRUG] synonym: "Amphotericine B" RELATED [DrugBank] synonym: "amphotericine B" RELATED INN [ChemIDplus] synonym: "amphotericinum B" RELATED INN [ChemIDplus] synonym: "Liposomal Amphotericin B" RELATED [DrugBank] xref: Beilstein:4645978 {source="Beilstein"} xref: CAS:1397-89-3 {source="ChemIDplus"} xref: CAS:1397-89-3 {source="DrugBank"} xref: CAS:1397-89-3 {source="KEGG COMPOUND"} xref: CAS:1397-89-3 {source="KEGG DRUG"} xref: Drug_Central:197 {source="DrugCentral"} xref: DrugBank:DB00681 xref: KEGG:C06573 xref: KEGG:D00203 xref: LIPID_MAPS_instance:LMPK06000002 {source="LIPID MAPS"} xref: MeSH:D000666 xref: NCIt:C238 xref: Patent:US2908611 xref: PMID:11429202 {source="Europe PMC"} xref: PMID:11930683 {source="Europe PMC"} xref: PMID:15793154 {source="Europe PMC"} xref: PMID:16120633 {source="Europe PMC"} xref: PMID:16793999 {source="Europe PMC"} xref: PMID:1732516 {source="ChEMBL"} xref: PMID:17507115 {source="ChEMBL"} xref: PMID:33846129 {source="Europe PMC"} xref: Reaxys:4645978 {source="Reaxys"} xref: SNOMEDCT:77703004 xref: Wikipedia:Amphotericin_B is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:33281 ! antimicrobial agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C47H73NO17" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C47H73NO17/c1-27-17-15-13-11-9-7-5-6-8-10-12-14-16-18-34(64-46-44(58)41(48)43(57)30(4)63-46)24-38-40(45(59)60)37(54)26-47(61,65-38)25-33(51)22-36(53)35(52)20-19-31(49)21-32(50)23-39(55)62-29(3)28(2)42(27)56/h5-18,27-38,40-44,46,49-54,56-58,61H,19-26,48H2,1-4H3,(H,59,60)/b6-5+,9-7+,10-8+,13-11+,14-12+,17-15+,18-16+/t27-,28-,29-,30+,31+,32+,33-,34-,35+,36+,37-,38-,40+,41-,42+,43+,44-,46-,47+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "APKFDSVGJQXUKY-INPOYWNPSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "924.07900" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "923.48785" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]12C[C@@H](O[C@@H]3O[C@H](C)[C@@H](O)[C@H](N)[C@@H]3O)\\C=C\\C=C\\C=C\\C=C\\C=C\\C=C\\C=C\\[C@H](C)[C@@H](O)[C@@H](C)[C@H](C)OC(=O)C[C@H](O)C[C@H](O)CC[C@@H](O)[C@H](O)C[C@H](O)C[C@](O)(C[C@H](O)[C@H]1C(O)=O)O2" xsd:string [Term] id: CHEBI:26863 name: teasterone namespace: chebi_ontology subset: 3_STAR synonym: "(22R,23R)-3beta,22,23-trihydroxy-5alpha-campestan-6-one" EXACT IUPAC_NAME [IUPAC] synonym: "(22R,23R,24S)-3beta,22,23-trihydroxy-5alpha-ergostan-6-one" RELATED [IUPAC] synonym: "6-oxo-campestan-3beta,22R,23R-triol" RELATED [LIPID_MAPS] synonym: "teasterone" EXACT [UniProt] xref: Beilstein:5305497 {source="Beilstein"} xref: KEGG:C15791 xref: KNApSAcK:C00000186 xref: LIPID_MAPS_instance:LMST01030121 {source="LIPID MAPS"} is_a: CHEBI:35341 ! steroid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C28H48O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C28H48O4/c1-15(2)16(3)25(31)26(32)17(4)20-7-8-21-19-14-24(30)23-13-18(29)9-11-28(23,6)22(19)10-12-27(20,21)5/h15-23,25-26,29,31-32H,7-14H2,1-6H3/t16-,17-,18-,19-,20+,21-,22-,23+,25+,26+,27+,28+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SBSXXCCMIWEPEE-GZKYLSGOSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "448.67830" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "448.35526" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]1(CC[C@@]2([H])[C@]3([H])CC(=O)[C@@]4([H])C[C@@H](O)CC[C@]4(C)[C@@]3([H])CC[C@]12C)[C@H](C)[C@@H](O)[C@H](O)[C@@H](C)C(C)C" xsd:string [Term] id: CHEBI:26986 name: threonine namespace: chebi_ontology def: "An alpha-amino acid in which one of the hydrogens attached to the alpha-carbon of glycine is substituted by a 1-hydroxyethyl group." [] subset: 3_STAR synonym: "Threonin" RELATED [ChEBI] synonym: "threonine" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:8204750 {source="Beilstein"} xref: CAS:80-68-2 {source="NIST Chemistry WebBook"} xref: CAS:80-68-2 {source="ChemIDplus"} xref: PMID:11379295 {source="Europe PMC"} xref: PMID:15221503 {source="Europe PMC"} xref: PMID:22264337 {source="Europe PMC"} xref: Wikipedia:Threonine is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H9NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "119.119" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "119.05824" xsd:string [Term] id: CHEBI:27026 name: toxin namespace: chebi_ontology def: "Poisonous substance produced by a biological organism such as a microbe, animal or plant." [] subset: 3_STAR synonym: "toxin" EXACT IUPAC_NAME [IUPAC] synonym: "toxins" RELATED [ChEBI] xref: NCIt:C894 xref: NIFSTD:birnlex_2103 xref: SNOMEDCT:80917008 xref: Wikipedia:Toxin is_a: CHEBI:25212 ! metabolite is_a: CHEBI:51086 ! chemical role relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:27027 name: micronutrient namespace: chebi_ontology def: "Any nutrient required in small quantities by organisms throughout their life in order to orchestrate a range of physiological functions." [] subset: 3_STAR synonym: "micronutrients" RELATED [ChEBI] synonym: "trace elements" RELATED [ChEBI] xref: NCIt:C68549 xref: Wikipedia:Micronutrient is_a: CHEBI:33284 ! nutrient is_a: CHEBI:51086 ! chemical role relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:2704 name: anastrozole namespace: chebi_ontology def: "A 1,2,4-triazole compound having a 3,5-bis(2-cyano-2-propyl)benzyl group at the 1-position." [] subset: 3_STAR synonym: "2,2'-[5-(1H-1,2,4-triazol-1-ylmethyl)-1,3-phenylene]bis(2-methylpropanenitrile)" EXACT IUPAC_NAME [IUPAC] synonym: "alpha,alpha,alpha',alpha'-Tetramethyl-5-(1H-1,2,4-triazol-1-ylmethyl)-m-benzenediacetonitrile" RELATED [ChemIDplus] synonym: "Anastrozol" RELATED [DrugBank] synonym: "anastrozole" RELATED INN [KEGG_DRUG] xref: Beilstein:8005958 {source="Beilstein"} xref: CAS:120511-73-1 {source="ChemIDplus"} xref: CAS:120511-73-1 {source="KEGG COMPOUND"} xref: CAS:120511-73-1 {source="DrugBank"} xref: CAS:120511-73-1 {source="KEGG DRUG"} xref: Drug_Central:210 {source="DrugCentral"} xref: DrugBank:DB01217 xref: KEGG:C08159 xref: KEGG:D00960 xref: LINCS:LSM-5631 xref: Patent:EP296749 xref: Patent:US4935437 xref: Wikipedia:Anastrozole is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C17H19N5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C17H19N5/c1-16(2,9-18)14-5-13(8-22-12-20-11-21-22)6-15(7-14)17(3,4)10-19/h5-7,11-12H,8H2,1-4H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YBBLVLTVTVSKRW-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "293.36630" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "293.16405" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)(C#N)c1cc(Cn2cncn2)cc(c1)C(C)(C)C#N" xsd:string [Term] id: CHEBI:27173 name: typhasterol namespace: chebi_ontology def: "A brassinosteroid that is ergostan-6-one bearing three additional hydroxy substituents at positions 3alpha, 22R and 23R." [] subset: 3_STAR synonym: "(3alpha,5alpha,22R,23R,24S)-3,22,23-trihydroxyergostan-6-one" EXACT IUPAC_NAME [IUPAC] synonym: "2-Deoxycastasterone" RELATED [HMDB] synonym: "typhasterol" EXACT [UniProt] xref: CAS:87734-68-7 {source="KNApSAcK"} xref: HMDB:HMDB0034423 xref: KEGG:C15793 xref: KNApSAcK:C00000185 xref: MetaCyc:CPD-719 xref: PMID:11161013 {source="Europe PMC"} xref: PMID:24856112 {source="Europe PMC"} xref: PMID:25092597 {source="Europe PMC"} xref: PMID:25433632 {source="Europe PMC"} xref: PMID:25700090 {source="Europe PMC"} xref: Reaxys:3629989 {source="Reaxys"} is_a: CHEBI:15889 ! sterol property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C28H48O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C28H48O4/c1-15(2)16(3)25(31)26(32)17(4)20-7-8-21-19-14-24(30)23-13-18(29)9-11-28(23,6)22(19)10-12-27(20,21)5/h15-23,25-26,29,31-32H,7-14H2,1-6H3/t16-,17-,18+,19-,20+,21-,22-,23+,25+,26+,27+,28+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SBSXXCCMIWEPEE-SELDZKRUSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "448.67830" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "448.35526" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)[C@H](C)[C@@H](O)[C@H](O)[C@@H](C)[C@H]1CC[C@H]2[C@@H]3CC(=O)[C@H]4C[C@H](O)CC[C@]4(C)[C@H]3CC[C@]12C" xsd:string [Term] id: CHEBI:27226 name: uric acid namespace: chebi_ontology def: "An oxopurine that is the final oxidation product of purine metabolism." [] subset: 3_STAR synonym: "uric acids" RELATED [ChEBI] xref: ChemIDplus:69-93-2 xref: HMDB:HMDB0000289 xref: MeSH:D014527 xref: NCIt:C62652 xref: SNOMEDCT:1710001 xref: Wikipedia:Uric_acid is_a: CHEBI:24532 ! organic heterocyclic compound is_a: EFO:0004416 ! acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H4N4O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "168.11042" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "168.02834" xsd:string [Term] id: CHEBI:27266 name: valine namespace: chebi_ontology def: "A branched-chain amino acid that consists of glycine in which one of the hydrogens attached to the alpha-carbon is substituted by an isopropyl group." [] subset: 3_STAR synonym: "2-amino-3-methylbutanoic acid" RELATED [IUPAC] synonym: "DL-valine" RELATED [ChEBI] synonym: "Hval" RELATED [IUPAC] synonym: "Valin" RELATED [ChEBI] synonym: "valina" RELATED [ChEBI] synonym: "valine" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:506689 {source="Beilstein"} xref: CAS:516-06-3 {source="ChemIDplus"} xref: CAS:516-06-3 {source="NIST Chemistry WebBook"} xref: CAS:516-06-3 {source="KEGG COMPOUND"} xref: Gmelin:49877 {source="Gmelin"} xref: KEGG:C16436 xref: PMID:17190852 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: Reaxys:506689 {source="Reaxys"} xref: Wikipedia:Valine is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H11NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H11NO2/c1-3(2)4(6)5(7)8/h3-4H,6H2,1-2H3,(H,7,8)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KZSNJWFQEVHDMF-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "117.14638" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "117.07898" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)C(N)C(O)=O" xsd:string [Term] id: CHEBI:27300 name: vitamin D namespace: chebi_ontology def: "Any member of a group of fat-soluble hydroxy seco-steroids that exhibit biological activity against vitamin D deficiency. Vitamin D can be obtained from sun exposure, food and supplements and is biologically inactive and converted into the biologically active calcitriol via double hydroxylation in the body." [] subset: 3_STAR synonym: "D vitamins" RELATED [ChEBI] synonym: "vitamin D vitamer" RELATED [ChEBI] synonym: "vitamin D vitamers" RELATED [ChEBI] synonym: "vitamin Ds" RELATED [ChEBI] synonym: "vitamins D" RELATED [ChEBI] xref: MeSH:D014807 xref: MetaCyc:Vitamin-D xref: SNOMEDCT:30178006 xref: Wikipedia:Vitamin_D is_a: CHEBI:35341 ! steroid relationship: has_role CHEBI:33229 ! vitamin (role) [Term] id: CHEBI:27345 name: xylonate namespace: chebi_ontology subset: 3_STAR synonym: "rel-(2R,3S,4R)-2,3,4,5-tetrahydroxypentanoate" EXACT IUPAC_NAME [IUPAC] synonym: "xylonate" EXACT IUPAC_NAME [IUPAC] is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H9O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "165.122" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "165.03991" xsd:string [Term] id: CHEBI:27363 name: zinc atom namespace: chebi_ontology subset: 3_STAR synonym: "30Zn" RELATED [IUPAC] synonym: "cinc" RELATED [ChEBI] synonym: "zinc" EXACT IUPAC_NAME [IUPAC] synonym: "zinc" RELATED [ChEBI] synonym: "zincum" RELATED [ChEBI] synonym: "Zink" RELATED [ChEBI] synonym: "Zn" RELATED [IUPAC] synonym: "Zn(II)" RELATED [KEGG_COMPOUND] synonym: "Zn2+" RELATED [KEGG_COMPOUND] xref: CAS:7440-66-6 {source="ChemIDplus"} xref: CAS:7440-66-6 {source="KEGG COMPOUND"} xref: Gmelin:16321 {source="Gmelin"} xref: KEGG:C00038 xref: MeSH:D015032 xref: NCIt:C948 xref: PDBeChem:ZN xref: SNOMEDCT:86739005 xref: WebElements:Zn is_a: CHEBI:33250 ! atom relationship: has_role CHEBI:27027 ! micronutrient property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "Zn" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/Zn" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HCHKCACWOHOZIP-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "65.39000" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "63.92914" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Zn]" xsd:string [Term] id: CHEBI:27385 name: tetrachloromethane namespace: chebi_ontology alt_id: CHEBI:23015 alt_id: CHEBI:3400 def: "A chlorocarbon that is methane in which all the hydrogens have been replaced by chloro groups." [] subset: 3_STAR synonym: "Carbon tetrachloride" RELATED [KEGG_COMPOUND] synonym: "CCl4" RELATED [IUPAC] synonym: "Kohlenstofftetrachlorid" RELATED [ChEBI] synonym: "Tetra" RELATED [ChEBI] synonym: "tetrachloridocarbon" RELATED [IUPAC] synonym: "Tetrachlorkohlenstoff" RELATED [ChEBI] synonym: "Tetrachlormethan" RELATED [NIST_Chemistry_WebBook] synonym: "Tetrachloromethane" EXACT [KEGG_COMPOUND] synonym: "tetrachloromethane" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:1098295 {source="Beilstein"} xref: CAS:56-23-5 {source="ChemIDplus"} xref: CAS:56-23-5 {source="NIST Chemistry WebBook"} xref: CAS:56-23-5 {source="KEGG COMPOUND"} xref: ChEMBL:167811 xref: ChemIDplus:56-23-5 xref: Drug_Central:3067 {source="DrugCentral"} xref: Gmelin:2347 {source="Gmelin"} xref: HMDB:HMDB0031330 xref: KEGG COMPOUND:56-23-5 xref: KEGG COMPOUND:C07561 xref: KEGG:C07561 xref: LINCS:LSM-37019 xref: MeSH:D002251 xref: NCIt:C44350 xref: NIST Chemistry WebBook:56-23-5 xref: PMID:24395137 {source="Europe PMC"} xref: PMID:24726765 {source="Europe PMC"} xref: PPDB:1350 xref: Reaxys:1098295 {source="Reaxys"} xref: SNOMEDCT:255644009 xref: UM-BBD:c0486 xref: UM-BBD_compID:c0486 {source="UM-BBD"} xref: Wikipedia:Carbon_Tetrachloride is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "CCl4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/CCl4/c2-1(3,4)5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VZGDMQKNWNREIO-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "153.82300" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "151.87541" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "ClC(Cl)(Cl)Cl" xsd:string [Term] id: CHEBI:27389 name: 3-aminoisobutyric acid namespace: chebi_ontology alt_id: CHEBI:18712 alt_id: CHEBI:19959 alt_id: CHEBI:359 def: "A beta-amino-acid that is isobutyric acid in which one of the methyl hydrogens is substituted by an amino group." [] subset: 3_STAR synonym: "2-(aminomethyl)propionic acid" RELATED [ChemIDplus] synonym: "2-Methyl-beta-alanine" RELATED [HMDB] synonym: "3-Amino-2-methylpropanoate" RELATED [KEGG_COMPOUND] synonym: "3-amino-2-methylpropanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "3-Aminoisobutanoate" RELATED [KEGG_COMPOUND] synonym: "3-Aminoisobutanoic acid" RELATED [HMDB] synonym: "3-aminoisobutyric acid" EXACT [ChemIDplus] synonym: "alpha-Methyl-beta-alanine" RELATED [HMDB] synonym: "BAIB" RELATED [ChEBI] synonym: "bAib" RELATED [ChEBI] synonym: "beta-aminoisobutyric acid" RELATED [ChEBI] synonym: "DL-beta-aminoisobutyric acid" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:1720958 {source="Beilstein"} xref: Beilstein:1745458 {source="Beilstein"} xref: CAS:10569-72-9 {source="ChemIDplus"} xref: CAS:10569-72-9 {source="NIST Chemistry WebBook"} xref: CAS:144-90-1 {source="ChemIDplus"} xref: CAS:144-90-1 {source="KEGG COMPOUND"} xref: Gmelin:1520758 {source="Gmelin"} xref: HMDB:HMDB0003911 xref: KEGG:C05145 xref: LIPID_MAPS_instance:LMFA01100054 {source="LIPID MAPS"} xref: MetaCyc:3-AMINO-ISOBUTYRATE xref: PMID:11785300 {source="Europe PMC"} xref: PMID:14576092 {source="Europe PMC"} xref: PMID:18299183 {source="Europe PMC"} xref: PMID:18600547 {source="Europe PMC"} xref: PMID:19186330 {source="Europe PMC"} xref: PMID:19735301 {source="Europe PMC"} xref: PMID:22735334 {source="Europe PMC"} xref: PMID:2274753 {source="Europe PMC"} xref: PMID:5776546 {source="Europe PMC"} xref: PMID:639325 {source="Europe PMC"} xref: PMID:8307374 {source="Europe PMC"} xref: Reaxys:1720958 {source="Reaxys"} xref: Wikipedia:3-Aminoisobutyric_acid is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H9NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H9NO2/c1-3(2-5)4(6)7/h3H,2,5H2,1H3,(H,6,7)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QCHPKSFMDHPSNR-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "103.11980" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "103.06333" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(CN)C(O)=O" xsd:string [Term] id: CHEBI:27407 name: kinetin namespace: chebi_ontology alt_id: CHEBI:10584 alt_id: CHEBI:24987 alt_id: CHEBI:43130 def: "A member of the class of 6-aminopurines that is adenine carrying a (furan-2-ylmethyl) substituent at the exocyclic amino group." [] subset: 3_STAR synonym: "6-(furfurylamino)purine" RELATED [ChemIDplus] synonym: "6-furfuryladenine" RELATED [ChemIDplus] synonym: "kinetin" EXACT [ChemIDplus] synonym: "kinetin" EXACT [UniProt] synonym: "N(6)-(furfurylamino)purine" RELATED [ChemIDplus] synonym: "N(6)-furfuryladenine" RELATED [ChemIDplus] synonym: "N-(furan-2-ylmethyl)-7H-purin-6-amine" EXACT IUPAC_NAME [IUPAC] synonym: "N-furfuryladenine" RELATED [ChemIDplus] xref: BPDB:1628 xref: CAS:525-79-1 {source="NIST Chemistry WebBook"} xref: CAS:525-79-1 {source="ChemIDplus"} xref: Drug_Central:3976 {source="DrugCentral"} xref: DrugBank:DB11336 xref: FooDB:FDB028887 xref: HMDB:HMDB0012245 xref: KEGG:C08272 xref: KNApSAcK:C00001504 xref: LINCS:LSM-5740 xref: MetaCyc:CPD-4609 xref: PDBeChem:H35 xref: Pesticides:kinetin {source="Alan Wood's Pesticides"} xref: PMID:23143313 {source="Europe PMC"} xref: PMID:23179712 {source="Europe PMC"} xref: PMID:23963070 {source="Europe PMC"} xref: PMID:7488181 {source="Europe PMC"} xref: Reaxys:21703 {source="Reaxys"} xref: Wikipedia:Kinetin is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H9N5O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H9N5O/c1-2-7(16-3-1)4-11-9-8-10(13-5-12-8)15-6-14-9/h1-3,5-6H,4H2,(H2,11,12,13,14,15)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QANMHLXAZMSUEX-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "215.21140" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "215.08071" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(Nc1ncnc2nc[nH]c12)c1ccco1" xsd:string [Term] id: CHEBI:27410 name: N-methyl-6-pyridone-3-carboxamide namespace: chebi_ontology alt_id: CHEBI:21800 alt_id: CHEBI:7358 def: "A pyridone that is 2-pyridone substituted with a carboxamide group at C-5 and a methyl group at N-1." [] subset: 3_STAR synonym: "1-Methyl-5-carboxylamide-2-pyridone" RELATED [KEGG_COMPOUND] synonym: "1-methyl-6-oxo-1,6-dihydropyridine-3-carboxamide" EXACT IUPAC_NAME [IUPAC] synonym: "3-Pyridinecarboxamide, 1,6-dihydro-1-methyl-6-oxo-" RELATED [ChemIDplus] synonym: "N'-Methyl-2-pyridone-5-carboxamide" RELATED [KEGG_COMPOUND] synonym: "N(1)-methyl-2-pyridone-5-carboxamide" RELATED [HMDB] synonym: "N-methyl-2-pyridone-5-carboxamide" RELATED [HMDB] xref: CAS:701-44-0 {source="ChemIDplus"} xref: CAS:701-44-0 {source="KEGG COMPOUND"} xref: HMDB:HMDB0004193 xref: KEGG:C05842 xref: PMID:10694697 {source="Europe PMC"} xref: PMID:12694300 {source="Europe PMC"} xref: PMID:13211649 {source="Europe PMC"} xref: PMID:15663182 {source="Europe PMC"} xref: PMID:16029944 {source="Europe PMC"} xref: PMID:17190852 {source="Europe PMC"} xref: PMID:20073472 {source="Europe PMC"} xref: PMID:20853461 {source="Europe PMC"} xref: Reaxys:124385 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H8N2O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H8N2O2/c1-9-4-5(7(8)11)2-3-6(9)10/h2-4H,1H3,(H2,8,11)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JLQSXXWTCJPCBC-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "152.15060" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "152.05858" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cn1cc(ccc1=O)C(N)=O" xsd:string [Term] id: CHEBI:27432 name: alpha-linolenic acid namespace: chebi_ontology alt_id: CHEBI:10298 alt_id: CHEBI:22462 alt_id: CHEBI:43891 def: "A linolenic acid with cis-double bonds at positions 9, 12 and 15. Shown to have an antithrombotic effect." [] subset: 3_STAR synonym: "(9,12,15)-linolenic acid" RELATED [CBN] synonym: "(9Z,12Z,15Z)-octadeca-9,12,15-trienoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "(9Z,12Z,15Z)-Octadecatrienoic acid" RELATED [KEGG_COMPOUND] synonym: "(Z,Z,Z)-9,12,15-octadecatrienoic acid" RELATED [NIST_Chemistry_WebBook] synonym: "9,12,15-Octadecatrienoic acid" RELATED [KEGG_COMPOUND] synonym: "9-cis,12-cis,15-cis-octadecatrienoic acid" RELATED [ChemIDplus] synonym: "ALA" RELATED [ChEBI] synonym: "all-cis-9,12,15-octadecatrienoic acid" RELATED [NIST_Chemistry_WebBook] synonym: "ALPHA-LINOLENIC ACID" EXACT [PDBeChem] synonym: "alpha-Linolenic acid" EXACT [KEGG_COMPOUND] synonym: "alpha-linolenic acid" EXACT [NIST_Chemistry_WebBook] synonym: "cis,cis,cis-9,12,15-octadecatrienoic acid" RELATED [NIST_Chemistry_WebBook] synonym: "cis-Delta(9,12,15)-octadecatrienoic acid" RELATED [ChemIDplus] synonym: "linolenic acid" RELATED [ChEBI] xref: Beilstein:1727693 {source="Beilstein"} xref: CAS:463-40-1 {source="ChemIDplus"} xref: CAS:463-40-1 {source="NIST Chemistry WebBook"} xref: CAS:463-40-1 {source="KEGG COMPOUND"} xref: ChemIDplus:463-40-1 xref: CiteXplore:10232625 xref: CiteXplore:10370194 xref: CiteXplore:10452408 xref: CiteXplore:10617967 xref: CiteXplore:10775263 xref: CiteXplore:11090255 xref: CiteXplore:11157315 xref: CiteXplore:11290821 xref: CiteXplore:11304127 xref: CiteXplore:12438303 xref: CiteXplore:12668490 xref: CiteXplore:14643447 xref: CiteXplore:15017185 xref: CiteXplore:15051847 xref: CiteXplore:15776817 xref: CiteXplore:16249438 xref: CiteXplore:16430627 xref: CiteXplore:19269799 xref: CiteXplore:21359215 xref: CiteXplore:22411374 xref: CiteXplore:24320056 xref: CiteXplore:24639012 xref: CiteXplore:24855655 xref: CiteXplore:3315767 xref: CiteXplore:7774533 xref: CiteXplore:7825540 xref: CiteXplore:7913655 xref: CiteXplore:7929039 xref: CiteXplore:8717442 xref: Drug_Central:4618 {source="DrugCentral"} xref: DrugBank:DB00132 xref: Gmelin:57558 {source="Gmelin"} xref: HMDB:HMDB0001388 xref: HMDB:HMDB01388 xref: KEGG COMPOUND:463-40-1 xref: KEGG COMPOUND:C06427 xref: KEGG:C06427 xref: KNApSAcK:C00007247 xref: LIPID MAPS:LMFA01030152 xref: LIPID_MAPS_instance:LMFA01030152 {source="LIPID MAPS"} xref: MetaCyc:LINOLENIC_ACID xref: NIST Chemistry WebBook:463-40-1 xref: PDBeChem:LNL xref: PMID:10232625 {source="Europe PMC"} xref: PMID:11304127 {source="Europe PMC"} xref: PMID:19269799 {source="Europe PMC"} xref: PMID:24320056 {source="Europe PMC"} xref: PMID:24639012 {source="Europe PMC"} xref: PMID:24855655 {source="Europe PMC"} xref: Reaxys:1727693 {source="Reaxys"} xref: Wikipedia:Alpha-Linolenic_acid xref: Wikipedia:Linolenic acid is_a: CHEBI:25048 ! linolenic acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H30O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H30O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-18(19)20/h3-4,6-7,9-10H,2,5,8,11-17H2,1H3,(H,19,20)/b4-3-,7-6-,10-9-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DTOSIQBPPRVQHS-PDBXOOCHSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "278.42960" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "278.22458" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC\\C=C/C\\C=C/C\\C=C/CCCCCCCC(O)=O" xsd:string [Term] id: CHEBI:27436 name: methyltestosterone namespace: chebi_ontology alt_id: CHEBI:25344 alt_id: CHEBI:6892 def: "A 17beta-hydroxy steroid that is testosterone bearing a methyl group at the 17alpha position." [] subset: 3_STAR synonym: "(17beta)-17-hydroxy-17-methylandrost-4-en-3-one" EXACT IUPAC_NAME [IUPAC] synonym: "17(alpha)-methyl-Delta(4)-androsten-17(beta)-ol-3-one" RELATED [ChemIDplus] synonym: "17-beta-hydroxy-17-methylandrost-4-en-3-one" RELATED [ChemIDplus] synonym: "17-methyltestosterone" RELATED [ChemIDplus] synonym: "17alpha-methyl-3-oxo-4-androsten-17beta-ol" RELATED [ChemIDplus] synonym: "17alpha-methyl-Delta(4)-androsten-17beta-ol-3-one" RELATED [ChEBI] synonym: "17alpha-methyltestosterone" RELATED [ChemIDplus] synonym: "17beta-hydroxy-17-methylandrost-4-en-3-one" RELATED [ChemIDplus] synonym: "4-androstene-17alpha-methyl-17beta-ol-3-one" RELATED [ChemIDplus] synonym: "Android" RELATED BRAND_NAME [DrugBank] synonym: "Methyltestosterone" EXACT [KEGG_COMPOUND] synonym: "methyltestosterone" RELATED INN [ChemIDplus] synonym: "methyltestosteronum" RELATED INN [ChemIDplus] synonym: "metiltestosterona" RELATED INN [ChemIDplus] synonym: "NSC-9701" RELATED [ChemIDplus] synonym: "Testred" RELATED BRAND_NAME [DrugBank] synonym: "Virilon" RELATED BRAND_NAME [DrugBank] xref: CAS:58-18-4 {source="KEGG COMPOUND"} xref: CAS:58-18-4 {source="ChemIDplus"} xref: Drug_Central:3356 {source="DrugCentral"} xref: DrugBank:DB06710 xref: KEGG:C07198 xref: KEGG:D00408 xref: Patent:US2374369 xref: Patent:US2374370 xref: Patent:US2384355 xref: Patent:US2386331 xref: Patent:US2435013 xref: PMID:19199316 {source="Europe PMC"} xref: Reaxys:2057425 {source="Reaxys"} is_a: CHEBI:35341 ! steroid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H30O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H30O2/c1-18-9-6-14(21)12-13(18)4-5-15-16(18)7-10-19(2)17(15)8-11-20(19,3)22/h12,15-17,22H,4-11H2,1-3H3/t15-,16+,17+,18+,19+,20+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GCKMFJBGXUYNAG-HLXURNFRSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "302.45100" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "302.22458" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12CCC3=CC(=O)CC[C@]3(C)[C@@]1([H])CC[C@@]1(C)[C@@]2([H])CC[C@]1(C)O" xsd:string [Term] id: CHEBI:27468 name: 5,6-dihydrothymine namespace: chebi_ontology alt_id: CHEBI:1998 alt_id: CHEBI:20510 def: "A pyrimidone obtained by formal addition of hydrogen across the 5,6-position of thymine." [] subset: 3_STAR synonym: "5,6-Dihydro-5-methyluracil" RELATED [KEGG_COMPOUND] synonym: "5,6-Dihydrothymine" EXACT [KEGG_COMPOUND] synonym: "5,6-dihydrothymine" EXACT [UniProt] synonym: "5,6-dihydrothymine" EXACT IUPAC_NAME [IUPAC] synonym: "5-Methyl-5,6-dihydrouracil" RELATED [ChemIDplus] synonym: "5-methyldihydropyrimidine-2,4(1H,3H)-dione" EXACT IUPAC_NAME [IUPAC] synonym: "Dihydrothymine" RELATED [KEGG_COMPOUND] xref: CAS:696-04-8 {source="ChemIDplus"} xref: CAS:696-04-8 {source="KEGG COMPOUND"} xref: KEGG:C00906 xref: PMID:12798197 {source="Europe PMC"} xref: PMID:20509700 {source="Europe PMC"} xref: PMID:2669952 {source="Europe PMC"} xref: Reaxys:81983 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H8N2O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H8N2O2/c1-3-2-6-5(9)7-4(3)8/h3H,2H2,1H3,(H2,6,7,8,9)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NBAKTGXDIBVZOO-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "128.12930" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "128.05858" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC1CNC(=O)NC1=O" xsd:string [Term] id: CHEBI:27470 name: folic acid namespace: chebi_ontology alt_id: CHEBI:24075 alt_id: CHEBI:42610 alt_id: CHEBI:5140 alt_id: CHEBI:569217 def: "An N-acyl-amino acid that is a form of the water-soluble vitamin B9. Its biologically active forms (tetrahydrofolate and others) are essential for nucleotide biosynthesis and homocysteine remethylation." [] subset: 3_STAR synonym: "(2S)-2-(4-{[(2-amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzamido)pentanedioic acid" RELATED [IUPAC] synonym: "Acfol" RELATED BRAND_NAME [ChemIDplus] synonym: "acide folique" RELATED INN [WHO_MedNet] synonym: "acido folico" RELATED INN [WHO_MedNet] synonym: "acidum folicum" RELATED INN [WHO_MedNet] synonym: "Folate" RELATED [KEGG_COMPOUND] synonym: "folic acid" RELATED INN [WHO_MedNet] synonym: "Folicet" RELATED BRAND_NAME [KEGG_DRUG] synonym: "Folsaeure" RELATED [ChEBI] synonym: "N-(4-{[(2-amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid" EXACT IUPAC_NAME [IUPAC] synonym: "N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid" RELATED [PDBeChem] synonym: "N-pteroyl-L-glutamic acid" RELATED [ChEBI] synonym: "PGA" RELATED [NIST_Chemistry_WebBook] synonym: "PteGlu" RELATED [NIST_Chemistry_WebBook] synonym: "pteroyl-L-glutamic acid" RELATED [ChemIDplus] synonym: "pteroyl-L-monoglutamic acid" RELATED [ChemIDplus] synonym: "pteroylglutamic acid" RELATED [KEGG_COMPOUND] synonym: "pteroylmonoglutamic acid" RELATED [ChemIDplus] synonym: "vitamin B11" RELATED [ChemIDplus] synonym: "vitamin B9" RELATED [ChemIDplus] synonym: "vitamin Bc" RELATED [ChemIDplus] synonym: "vitamin Be" RELATED [ChemIDplus] synonym: "vitamin M" RELATED [ChemIDplus] xref: AGR:IND606960789 {source="Europe PMC"} xref: Beilstein:100781 {source="Beilstein"} xref: CAS:59-30-3 {source="KEGG COMPOUND"} xref: CAS:59-30-3 {source="NIST Chemistry WebBook"} xref: CAS:59-30-3 {source="ChemIDplus"} xref: ChEMBL:18788725 xref: ChemIDplus:59-30-3 xref: Chemspider:5815 xref: CiteXplore:17784727 xref: Drug_Central:1231 {source="DrugCentral"} xref: DrugBank:DB00158 xref: FooDB:FDB014504 xref: HMDB:HMDB0000121 xref: KEGG COMPOUND:59-30-3 xref: KEGG COMPOUND:C00504 xref: KEGG:C00504 xref: KEGG:D00070 xref: KNApSAcK:C00001539 xref: LINCS:LSM-5355 xref: MeSH:D005492 xref: MetaCyc:CPD-12826 xref: NCIt:C510 xref: NIST Chemistry WebBook:59-30-3 xref: PDBeChem:FOL xref: PMID:10138938 {source="Europe PMC"} xref: PMID:10897644 {source="Europe PMC"} xref: PMID:10958818 {source="Europe PMC"} xref: PMID:11261364 {source="Europe PMC"} xref: PMID:11451208 {source="Europe PMC"} xref: PMID:11959400 {source="Europe PMC"} xref: PMID:14387833 {source="Europe PMC"} xref: PMID:15321809 {source="Europe PMC"} xref: PMID:15523939 {source="Europe PMC"} xref: PMID:15754725 {source="Europe PMC"} xref: PMID:15797531 {source="Europe PMC"} xref: PMID:15797685 {source="Europe PMC"} xref: PMID:15831910 {source="Europe PMC"} xref: PMID:15990733 {source="Europe PMC"} xref: PMID:16093404 {source="Europe PMC"} xref: PMID:16277678 {source="Europe PMC"} xref: PMID:16380297 {source="Europe PMC"} xref: PMID:16871332 {source="Europe PMC"} xref: PMID:17784727 {source="Europe PMC"} xref: PMID:18788725 {source="ChEMBL"} xref: PMID:19121630 {source="Europe PMC"} xref: PMID:19335717 {source="Europe PMC"} xref: PMID:19355913 {source="Europe PMC"} xref: PMID:24650098 {source="Europe PMC"} xref: PMID:33624660 {source="Europe PMC"} xref: PMID:33965562 {source="Europe PMC"} xref: PMID:33968971 {source="Europe PMC"} xref: PMID:34207319 {source="Europe PMC"} xref: PMID:34219855 {source="Europe PMC"} xref: PMID:7738698 {source="Europe PMC"} xref: PMID:8235383 {source="Europe PMC"} xref: PMID:9040515 {source="Europe PMC"} xref: PMID:9420019 {source="Europe PMC"} xref: PMID:9565830 {source="Europe PMC"} xref: PMID:9683174 {source="Europe PMC"} xref: PMID:9781393 {source="Europe PMC"} xref: PMID:9808640 {source="Europe PMC"} xref: PMID:9808641 {source="Europe PMC"} xref: Reaxys:100781 {source="Reaxys"} xref: SNOMEDCT:63718003 xref: Wikipedia:Folic_Acid is_a: CHEBI:24532 ! organic heterocyclic compound is_a: EFO:0004416 ! acid relationship: has_role CHEBI:33229 ! vitamin (role) property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H19N7O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OVBPIULPVIDEAO-LBPRGKRZSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "441.39750" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "441.13968" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Nc1nc2ncc(CNc3ccc(cc3)C(=O)N[C@@H](CCC(O)=O)C(O)=O)nc2c(=O)[nH]1" xsd:string [Term] id: CHEBI:27487 name: 3-(imidazol-5-yl)lactic acid namespace: chebi_ontology alt_id: CHEBI:1119 alt_id: CHEBI:24774 alt_id: CHEBI:5873 def: "A 2-hydroxy monocarboxylic acid that is lactic acid in which one of the methyl hydrogens has been replaced by an imidazol-5-yl group." [] subset: 3_STAR synonym: "2-Hydroxy-3-(1H-imidazol-5-yl)-propanoic acid" RELATED [KEGG_COMPOUND] synonym: "2-hydroxy-3-(1H-imidazol-5-yl)propanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "2-Hydroxy-3-[4-imidazolyl]-propanoate" RELATED [KEGG_COMPOUND] synonym: "alpha-hydroxy-1H-imidazolepropanoic acid" RELATED [ChemIDplus] synonym: "Imidazole lactate" RELATED [KEGG_COMPOUND] synonym: "Imidazole lactic acid" RELATED [KEGG_COMPOUND] xref: Beilstein:7795 {source="Beilstein"} xref: CAS:30581-88-5 {source="ChemIDplus"} xref: Gmelin:464711 {source="Gmelin"} xref: KEGG:C05568 xref: PMID:13220477 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: PMID:6017775 {source="Europe PMC"} xref: PMID:6333900 {source="Europe PMC"} xref: Reaxys:7795 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound is_a: EFO:0004416 ! acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H8N2O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H8N2O3/c9-5(6(10)11)1-4-2-7-3-8-4/h2-3,5,9H,1H2,(H,7,8)(H,10,11)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ACZFBYCNAVEFLC-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "156.140" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "156.05349" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C=1N=CNC1CC(C(=O)O)O" xsd:string [Term] id: CHEBI:27504 name: mitomycin C namespace: chebi_ontology alt_id: CHEBI:25356 alt_id: CHEBI:6953 subset: 3_STAR synonym: "7-Amino-9alpha-methoxymitosane" RELATED [ChemIDplus] synonym: "[(1aS,8S,8aR,8bS)-6-amino-8a-methoxy-5-methyl-4,7-dioxo-1,1a,2,4,7,8,8a,8b-octahydroazirino[2',3':3,4]pyrrolo[1,2-a]indol-8-yl]methyl carbamate" EXACT IUPAC_NAME [IUPAC] synonym: "Ametycine" RELATED [ChemIDplus] synonym: "Mitocin-C" RELATED [ChemIDplus] synonym: "Mitomycin" RELATED [KEGG_COMPOUND] synonym: "Mitomycin C" EXACT [KEGG_COMPOUND] synonym: "MMC" RELATED [ChemIDplus] synonym: "Mutamycin" RELATED [ChemIDplus] xref: Beilstein:3570056 {source="Beilstein"} xref: CAS:50-07-7 {source="ChemIDplus"} xref: CAS:50-07-7 {source="KEGG COMPOUND"} xref: Drug_Central:1819 {source="DrugCentral"} xref: DrugBank:DB00305 xref: KEGG:C06681 xref: KEGG:D00208 xref: KNApSAcK:C00018668 xref: LINCS:LSM-6310 xref: PMID:36194168 {source="Europe PMC"} xref: PMID:36453313 {source="Europe PMC"} xref: PMID:36473690 {source="Europe PMC"} xref: Wikipedia:Mitomycin is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C15H18N4O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C15H18N4O5/c1-5-9(16)12(21)8-6(4-24-14(17)22)15(23-2)13-7(18-13)3-19(15)10(8)11(5)20/h6-7,13,18H,3-4,16H2,1-2H3,(H2,17,22)/t6-,7+,13+,15-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NWIBSHFKIJFRCO-WUDYKRTCSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "334.32720" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "334.12772" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]12CN3C4=C([C@@H](COC(N)=O)[C@@]3(OC)[C@@]1([H])N2)C(=O)C(N)=C(C)C4=O" xsd:string [Term] id: CHEBI:27561 name: oxirane namespace: chebi_ontology alt_id: CHEBI:24001 alt_id: CHEBI:4900 def: "A saturated organic heteromonocyclic parent that is a three-membered heterocycle of two carbon atoms and one oxygen atom." [] subset: 3_STAR synonym: "1,2-Epoxyaethan" RELATED [ChemIDplus] synonym: "1,2-epoxyethane" RELATED [NIST_Chemistry_WebBook] synonym: "Aethylenoxid" RELATED [ChemIDplus] synonym: "Amprolene" RELATED [ChemIDplus] synonym: "Anprolene" RELATED [NIST_Chemistry_WebBook] synonym: "Anproline" RELATED [ChemIDplus] synonym: "Dihydrooxirene" RELATED [ChemIDplus] synonym: "Dimethylene oxide" RELATED [ChemIDplus] synonym: "epoxyethane" RELATED [NIST_Chemistry_WebBook] synonym: "ethene oxide" RELATED [NIST_Chemistry_WebBook] synonym: "Ethylene oxide" RELATED [KEGG_COMPOUND] synonym: "ETO" RELATED [ChemIDplus] synonym: "Oxacyclopropane" RELATED [ChemIDplus] synonym: "Oxane" RELATED [ChemIDplus] synonym: "Oxidoethane" RELATED [ChemIDplus] synonym: "oxirane" EXACT IUPAC_NAME [IUPAC] synonym: "oxyde d'ethylene" RELATED [ChemIDplus] synonym: "Oxyfume" RELATED [ChEBI] xref: Beilstein:102378 {source="Beilstein"} xref: CAS:75-21-8 {source="NIST Chemistry WebBook"} xref: CAS:75-21-8 {source="KEGG COMPOUND"} xref: CAS:75-21-8 {source="ChemIDplus"} xref: Gmelin:676 {source="Gmelin"} xref: HMDB:HMDB0031305 xref: KEGG:C06548 xref: KEGG:D03474 xref: PMID:11437638 {source="Europe PMC"} xref: PMID:24313866 {source="Europe PMC"} xref: PMID:24882394 {source="Europe PMC"} xref: PMID:25005741 {source="Europe PMC"} xref: PMID:3932500 {source="Europe PMC"} xref: Reaxys:102378 {source="Reaxys"} xref: UM-BBD_compID:c0527 {source="UM-BBD"} xref: Wikipedia:Oxirane is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C2H4O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C2H4O/c1-2-3-1/h1-2H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IAYPIBMASNFSPL-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "44.05256" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "44.02621" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C1CO1" xsd:string [Term] id: CHEBI:27563 name: arsenic atom namespace: chebi_ontology alt_id: CHEBI:22630 alt_id: CHEBI:2845 subset: 3_STAR synonym: "33As" RELATED [IUPAC] synonym: "Arsen" RELATED [ChemIDplus] synonym: "Arsenic" RELATED [KEGG_COMPOUND] synonym: "arsenic" EXACT IUPAC_NAME [IUPAC] synonym: "arsenic" RELATED [ChEBI] synonym: "arsenico" RELATED [ChEBI] synonym: "arsenicum" RELATED [ChEBI] synonym: "As" RELATED [KEGG_COMPOUND] xref: CAS:7440-38-2 {source="ChemIDplus"} xref: CAS:7440-38-2 {source="KEGG COMPOUND"} xref: KEGG:C06269 xref: MeSH:D001151 xref: NCIt:C28131 xref: SNOMEDCT:47809000 xref: WebElements:As is_a: CHEBI:33250 ! atom property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "As" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/As" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RQNWIZPPADIBDY-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "74.92160" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "74.92159" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[As]" xsd:string [Term] id: CHEBI:27568 name: selenium atom namespace: chebi_ontology alt_id: CHEBI:26627 alt_id: CHEBI:9091 subset: 3_STAR synonym: "34Se" RELATED [IUPAC] synonym: "Se" RELATED [IUPAC] synonym: "Selen" RELATED [ChemIDplus] synonym: "selenio" RELATED [ChEBI] synonym: "Selenium" RELATED [KEGG_COMPOUND] synonym: "selenium" EXACT IUPAC_NAME [IUPAC] synonym: "selenium" RELATED [ChEBI] xref: CAS:7782-49-2 {source="ChemIDplus"} xref: CAS:7782-49-2 {source="NIST Chemistry WebBook"} xref: DrugBank:DB11135 xref: FooDB:FDB013400 xref: HMDB:HMDB0001349 xref: KEGG:C01529 xref: MeSH:D012643 xref: NCIt:C825 xref: SNOMEDCT:22038003 xref: WebElements:Se xref: Wikipedia:Selenium is_a: CHEBI:33250 ! atom relationship: has_role CHEBI:27027 ! micronutrient property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "Se" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/Se" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BUGBHKTXTAQXES-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "78.96000" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "79.91652" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Se]" xsd:string [Term] id: CHEBI:27570 name: histidine namespace: chebi_ontology alt_id: CHEBI:24598 alt_id: CHEBI:43118 alt_id: CHEBI:5733 def: "An alpha-amino acid that is propanoic acid bearing an amino substituent at position 2 and a 1H-imidazol-4-yl group at position 3." [] subset: 3_STAR synonym: "2-amino-3-(1H-imidazol-4-yl)propanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "alpha-Amino-1H-imidazole-4-propionic acid" RELATED [KEGG_COMPOUND] synonym: "DL-Histidine" RELATED [KEGG_COMPOUND] synonym: "Histidin" RELATED [ChEBI] synonym: "histidina" RELATED [ChEBI] synonym: "Histidine" EXACT [KEGG_COMPOUND] synonym: "histidine" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:84087 {source="Beilstein"} xref: CAS:4998-57-6 {source="ChemIDplus"} xref: Gmelin:3656 {source="Gmelin"} xref: KEGG:C00768 xref: KNApSAcK:C00001363 xref: PMID:17190852 {source="Europe PMC"} xref: PMID:22264337 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: PMID:29286160 {source="Europe PMC"} xref: Reaxys:84087 {source="Reaxys"} xref: Wikipedia:Histidine is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H9N3O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H9N3O2/c7-5(6(10)11)1-4-2-8-3-9-4/h2-3,5H,1,7H2,(H,8,9)(H,10,11)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HNDVDQJCIGZPNO-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "155.15468" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "155.06948" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NC(Cc1c[nH]cn1)C(O)=O" xsd:string [Term] id: CHEBI:27573 name: silicon atom namespace: chebi_ontology alt_id: CHEBI:26676 alt_id: CHEBI:9140 subset: 3_STAR synonym: "14Si" RELATED [IUPAC] synonym: "Si" RELATED [KEGG_COMPOUND] synonym: "Si" RELATED [IUPAC] synonym: "silicio" RELATED [ChEBI] synonym: "silicium" RELATED [ChEBI] synonym: "Silicon" RELATED [KEGG_COMPOUND] synonym: "silicon" EXACT IUPAC_NAME [IUPAC] synonym: "silicon" RELATED [ChEBI] synonym: "Silizium" RELATED [ChEBI] xref: CAS:7440-21-3 {source="ChemIDplus"} xref: KEGG:C06263 xref: WebElements:Si is_a: CHEBI:33250 ! atom property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "Si" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/Si" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XUIMIQQOPSSXEZ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "28.08550" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "27.97693" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Si]" xsd:string [Term] id: CHEBI:27584 name: aldosterone namespace: chebi_ontology alt_id: CHEBI:22306 alt_id: CHEBI:2563 alt_id: CHEBI:40919 def: "A pregnane-based steroidal hormone produced by the outer-section (zona glomerulosa) of the adrenal cortex in the adrenal gland, and acts on the distal tubules and collecting ducts of the kidney to cause the conservation of sodium, secretion of potassium, increased water retention, and increased blood pressure. The overall effect of aldosterone is to increase reabsorption of ions and water in the kidney." [] subset: 3_STAR synonym: "(+)-aldosterone" RELATED [NIST_Chemistry_WebBook] synonym: "(11beta)-11,21-dihydroxy-3,20-dioxopregn-4-en-18-al" RELATED [NIST_Chemistry_WebBook] synonym: "11beta,21-Dihydroxy-3,20-dioxo-4-pregnen-18-al" RELATED [KEGG_COMPOUND] synonym: "11beta,21-dihydroxy-3,20-dioxopregn-4-en-18-al" EXACT IUPAC_NAME [IUPAC] synonym: "ALDOSTERONE" EXACT [PDBeChem] synonym: "Aldosterone" EXACT [KEGG_COMPOUND] synonym: "aldosterone" EXACT [UniProt] xref: Beilstein:3224996 {source="ChemIDplus"} xref: CAS:52-39-1 {source="ChemIDplus"} xref: CAS:52-39-1 {source="NIST Chemistry WebBook"} xref: CAS:52-39-1 {source="KEGG COMPOUND"} xref: Drug_Central:111 {source="DrugCentral"} xref: DrugBank:DB04630 xref: HMDB:HMDB0000037 xref: KEGG:C01780 xref: LINCS:LSM-42770 xref: LIPID_MAPS_instance:LMST02030026 {source="LIPID MAPS"} xref: MeSH:D000450 xref: NCIt:C219 xref: PDBeChem:AS4 xref: PMID:10438974 {source="Europe PMC"} xref: Reaxys:3224996 {source="Reaxys"} xref: SNOMEDCT:42605004 xref: Wikipedia:Aldosterone is_a: CHEBI:26764 ! steroid hormone relationship: has_role CHEBI:26764 ! steroid hormone property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C21H28O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C21H28O5/c1-20-7-6-13(24)8-12(20)2-3-14-15-4-5-16(18(26)10-22)21(15,11-23)9-17(25)19(14)20/h8,11,14-17,19,22,25H,2-7,9-10H2,1H3/t14-,15-,16+,17-,19+,20-,21+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PQSUYGKTWSAVDQ-ZVIOFETBSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "360.44400" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "360.19367" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]1(CC[C@@]2([H])[C@]3([H])CCC4=CC(=O)CC[C@]4(C)[C@@]3([H])[C@@H](O)C[C@]12C=O)C(=O)CO" xsd:string [Term] id: CHEBI:27594 name: carbon atom namespace: chebi_ontology alt_id: CHEBI:23009 alt_id: CHEBI:3399 subset: 3_STAR synonym: "6C" RELATED [IUPAC] synonym: "C" RELATED [KEGG_COMPOUND] synonym: "C" RELATED [IUPAC] synonym: "Carbon" RELATED [KEGG_COMPOUND] synonym: "carbon" EXACT IUPAC_NAME [IUPAC] synonym: "carbon" RELATED [ChEBI] synonym: "carbone" RELATED [ChEBI] synonym: "carbonium" RELATED [ChEBI] synonym: "carbono" RELATED [ChEBI] synonym: "Kohlenstoff" RELATED [ChEBI] xref: CAS:7440-44-0 {source="ChemIDplus"} xref: CAS:7440-44-0 {source="KEGG COMPOUND"} xref: KEGG:C06265 xref: WebElements:C is_a: CHEBI:33250 ! atom property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OKTJSMMVPCPJKN-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "12.01070" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "12.00000" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C]" xsd:string [Term] id: CHEBI:27617 name: monensin A namespace: chebi_ontology alt_id: CHEBI:25376 alt_id: CHEBI:6973 def: "A spiroketal, monensin A is the major component of monensin, a mixture of antibiotic substances produced by Streptomyces cinnamonensis. An antiprotozoal, it is used as the sodium salt as a feed additive for the prevention of coccidiosis in poultry and as a growth promoter in cattle." [] subset: 3_STAR synonym: "(2S,3R,4S)-4-[(2S,5R,7S,8R,9S)-2-{(2S,2'R,3'S,5R,5'R)-2-ethyl-5'-[(2S,3S,5R,6R)-6-hydroxy-6-(hydroxymethyl)-3,5-dimethyltetrahydro-2H-pyran-2-yl]-3'-methyloctahydro-2,2'-bifuran-5-yl}-9-hydroxy-2,8-dimethyl-1,6-dioxaspiro[4.5]dec-7-yl]-3-methoxy-2-methylpentanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "monensic acid" RELATED [ChemIDplus] synonym: "Monensin" RELATED [KEGG_COMPOUND] synonym: "monensin" RELATED INN [ChemIDplus] synonym: "Monensin A" EXACT [KEGG_COMPOUND] synonym: "monensina" RELATED INN [ChemIDplus] synonym: "monensinum" RELATED INN [ChemIDplus] xref: CAS:17090-79-8 {source="KEGG COMPOUND"} xref: KEGG:C06693 xref: KEGG:D08228 xref: LINCS:LSM-5659 xref: PMID:21215424 {source="Europe PMC"} xref: Reaxys:1633130 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C36H62O11" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C36H62O11/c1-10-34(31-20(3)16-26(43-31)28-19(2)15-21(4)36(41,18-37)46-28)12-11-27(44-34)33(8)13-14-35(47-33)17-25(38)22(5)30(45-35)23(6)29(42-9)24(7)32(39)40/h19-31,37-38,41H,10-18H2,1-9H3,(H,39,40)/t19-,20-,21+,22+,23-,24-,25-,26+,27+,28-,29+,30-,31+,33-,34-,35+,36-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GAOZTHIDHYLHMS-KEOBGNEYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "670.87090" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "670.42921" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]1(C[C@H](C)[C@@]([H])(O1)[C@]1(CC)CC[C@@]([H])(O1)[C@]1(C)CC[C@]2(C[C@H](O)[C@@H](C)[C@]([H])(O2)[C@@H](C)[C@@H](OC)[C@H](C)C(O)=O)O1)[C@@]1([H])O[C@@](O)(CO)[C@H](C)C[C@@H]1C" xsd:string [Term] id: CHEBI:2762 name: antimycin A namespace: chebi_ontology alt_id: CHEBI:22584 alt_id: CHEBI:40908 def: "A nine-membered bis-lactone having methyl substituents at the 2- and 6-positions, an n-hexyl substituent at the 8-position, an acyloxy substituent at the 7-position and an aroylamido substituent at the 3-position. It is produced by Streptomyces bacteria and has found commercial use as a fish poison." [] subset: 3_STAR synonym: "(2R,3S,6S,7R,8R)-3-[(3-formamido-2-hydroxybenzoyl)amino]-8-hexyl-2,6-dimethyl-4,9-dioxo-1,5-dioxonan-7-yl 3-methylbutanoate" EXACT IUPAC_NAME [IUPAC] synonym: "Antimycin A1" RELATED [KEGG_COMPOUND] synonym: "antimycin A1b" RELATED [ChEBI] synonym: "Antipiricullin" RELATED [ChemIDplus] synonym: "Fintrol" RELATED [ChemIDplus] synonym: "Virosin" RELATED [ChemIDplus] xref: Beilstein:72665 {source="Beilstein"} xref: CAS:1397-94-0 {source="ChemIDplus"} xref: CAS:642-15-9 {source="ChemIDplus"} xref: CAS:642-15-9 {source="KEGG COMPOUND"} xref: KEGG:C11339 xref: MetaCyc:CPD-5744 xref: PDBeChem:AY1 xref: PMID:16819166 {source="Europe PMC"} xref: PMID:29790043 {source="Europe PMC"} xref: PMID:30914247 {source="Europe PMC"} xref: PMID:31079230 {source="Europe PMC"} xref: PMID:32662599 {source="Europe PMC"} is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:33853 ! phenols property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C28H40N2O9" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C28H40N2O9/c1-6-7-8-9-11-20-25(39-22(32)14-16(2)3)18(5)38-28(36)23(17(4)37-27(20)35)30-26(34)19-12-10-13-21(24(19)33)29-15-31/h10,12-13,15-18,20,23,25,33H,6-9,11,14H2,1-5H3,(H,29,31)(H,30,34)/t17-,18+,20-,23+,25+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UIFFUZWRFRDZJC-SBOOETFBSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "548.633" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "548.27338" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C1([C@H]([C@H](OC([C@@H]([C@H]([C@@H](O1)C)OC(CC(C)C)=O)CCCCCC)=O)C)NC(C2=C(C(=CC=C2)NC(=O)[H])O)=O)=O" xsd:string [Term] id: CHEBI:27622 name: vanillylmandelate namespace: chebi_ontology alt_id: CHEBI:1573 alt_id: CHEBI:20105 def: "A hydroxy monocarboxylic acid anion that is the conjugate base of vanillylmandelic acid." [] subset: 3_STAR synonym: "2-hydroxy-2-(4-hydroxy-3-methoxyphenyl)acetate" EXACT IUPAC_NAME [IUPAC] synonym: "3-Methoxy-4-hydroxymandelate" RELATED [KEGG_COMPOUND] synonym: "vanilmandelate" RELATED [ChEBI] xref: KEGG:C05584 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H9O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H10O5/c1-14-7-4-5(2-3-6(7)10)8(11)9(12)13/h2-4,8,10-11H,1H3,(H,12,13)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CGQCWMIAEPEHNQ-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "197.16480" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "197.04555" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "COc1cc(ccc1O)C(O)C([O-])=O" xsd:string [Term] id: CHEBI:27641 name: cycloheximide namespace: chebi_ontology alt_id: CHEBI:23484 alt_id: CHEBI:4015 def: "A dicarboximide that is 4-(2-hydroxyethyl)piperidine-2,6-dione in which one of the hydrogens attached to the carbon bearing the hydroxy group is replaced by a 3,5-dimethyl-2-oxocyclohexyl group. It is an antibiotic produced by the bacterium Streptomyces griseus." [] subset: 3_STAR synonym: "3-((R)-2-((1S,3S,5S)-3,5-dimethyl-2-oxocyclohexyl)-2-hydroxyethyl)glutarimide" RELATED [ChemIDplus] synonym: "4-{(2R)-2-[(1S,3S,5S)-3,5-dimethyl-2-oxocyclohexyl]-2-hydroxyethyl}piperidine-2,6-dione" EXACT IUPAC_NAME [IUPAC] synonym: "cicloheximida" RELATED INN [ChemIDplus] synonym: "cicloheximide" RELATED INN [WHO_MedNet] synonym: "cicloheximidum" RELATED INN [ChemIDplus] synonym: "Cycloheximid" RELATED [ChEBI] synonym: "Cycloheximide" EXACT [KEGG_COMPOUND] synonym: "cycloheximide" EXACT [UniProt] synonym: "naramycin" RELATED [ChemIDplus] synonym: "naramycin A" RELATED [ChemIDplus] synonym: "Zykloheximid" RELATED [ChEBI] xref: Beilstein:88868 {source="Beilstein"} xref: CAS:66-81-9 {source="ChemIDplus"} xref: CAS:66-81-9 {source="KEGG COMPOUND"} xref: KEGG:C06685 xref: KEGG:D03625 xref: KNApSAcK:C00047211 xref: LINCS:LSM-2791 xref: MeSH:D003513 xref: NCIt:C28776 xref: NCIt:C90306 xref: PDBeChem:3HE xref: PMID:11972861 {source="Europe PMC"} xref: PMID:16659174 {source="Europe PMC"} xref: PMID:25209664 {source="Europe PMC"} xref: PMID:26715760 {source="Europe PMC"} xref: PMID:27192630 {source="Europe PMC"} xref: PMID:27665925 {source="Europe PMC"} xref: PMID:30154175 {source="Europe PMC"} xref: PMID:30916348 {source="Europe PMC"} xref: PMID:32299921 {source="Europe PMC"} xref: PMID:33101237 {source="Europe PMC"} xref: PPDB:1680 xref: Reaxys:88868 {source="Reaxys"} xref: SNOMEDCT:71165008 xref: Wikipedia:Cycloheximide is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:33281 ! antimicrobial agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C15H23NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C15H23NO4/c1-8-3-9(2)15(20)11(4-8)12(17)5-10-6-13(18)16-14(19)7-10/h8-12,17H,3-7H2,1-2H3,(H,16,18,19)/t8-,9-,11-,12+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YPHMISFOHDHNIV-FSZOTQKASA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "281.352" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "281.16271" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]1(C[C@@H](C)C[C@H](C)C1=O)[C@H](O)CC1CC(=O)NC(=O)C1" xsd:string [Term] id: CHEBI:27656 name: camptothecin namespace: chebi_ontology alt_id: CHEBI:22997 alt_id: CHEBI:3343 def: "A pyranoindolizinoquinoline that is pyrano[3',4':6,7]indolizino[1,2-b]quinoline which is substituted by oxo groups at positions 3 and 14, and by an ethyl group and a hydroxy group at position 4 (the S enantiomer)." [] subset: 3_STAR synonym: "(+)-camptothecin" RELATED [DrugBank] synonym: "(+)-camptothecine" RELATED [DrugBank] synonym: "(4S)-4-ethyl-4-hydroxy-1H-pyrano[3',4':6,7]indolizino[1,2-b]quinoline-3,14(4H,12H)-dione" EXACT IUPAC_NAME [IUPAC] synonym: "(S)-(+)-camptothecin" RELATED [DrugBank] synonym: "20(S)-camptothecine" RELATED [ChemIDplus] synonym: "21,22-Secocamptothecin-21-oic acid lactone" RELATED [ChemIDplus] synonym: "Camptothecin" EXACT [KEGG_COMPOUND] synonym: "Camptothecine" RELATED [ChemIDplus] synonym: "CPT" RELATED [DrugBank] synonym: "D-camptothecin" RELATED [DrugBank] xref: Beilstein:6075662 {source="Beilstein"} xref: CAS:7689-03-4 {source="ChemIDplus"} xref: DrugBank:DB04690 xref: KEGG:C01897 xref: KNApSAcK:C00002145 xref: LINCS:LSM-4611 xref: MeSH:D002166 xref: NCIt:C338 xref: PDBeChem:EHD xref: PMID:11024478 {source="Europe PMC"} xref: PMID:11549373 {source="Europe PMC"} xref: PMID:23344961 {source="Europe PMC"} xref: PMID:23474217 {source="Europe PMC"} xref: PMID:23676007 {source="Europe PMC"} xref: PMID:8965250 {source="Europe PMC"} xref: Reaxys:6075662 {source="Reaxys"} xref: SNOMEDCT:95994003 xref: Wikipedia:Camptothecin is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:35610 ! antineoplastic agent relationship: has_role CHEBI:50276 ! EC 5.99.1.2 (DNA topoisomerase) inhibitor property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H16N2O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H16N2O4/c1-2-20(25)14-8-16-17-12(7-11-5-3-4-6-15(11)21-17)9-22(16)18(23)13(14)10-26-19(20)24/h3-8,25H,2,9-10H2,1H3/t20-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VSJKWCGYPAHWDS-FQEVSTJZSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "348.35200" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "348.11101" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC[C@@]1(O)C(=O)OCc2c1cc1-c3nc4ccccc4cc3Cn1c2=O" xsd:string [Term] id: CHEBI:2766 name: aphidicolin namespace: chebi_ontology def: "A tetracyclic diterpenoid that has an tetradecahydro-8,11a-methanocyclohepta[a]naphthalene skeleton with two hydroxymethyl substituents at positions 4 and 9, two methyl substituents at positions 4 and 11b and two hydroxy substituents at positions 3 and 9. An antibiotic with antiviral and antimitotical properties. Aphidicolin is a reversible inhibitor of eukaryotic nuclear DNA replication." [] subset: 3_STAR synonym: "(3alpha,4alpha,5alpha,17alpha)-3,17-dihydroxy-4-methyl-9,15-cyclo-C,18-dinor-14,15-secoandrostane-4,17-dimethanol" RELATED [ChEBI] synonym: "(3R,4R,4aR,6aS,8R,9R,11aS,11bS)-4,9-bis(hydroxymethyl)-4,11b-dimethyltetradecahydro-8,11a-methanocyclohepta[a]naphthalene-3,9-diol" EXACT IUPAC_NAME [IUPAC] synonym: "Aphidicolin" EXACT [KEGG_COMPOUND] synonym: "aphidocolin" RELATED [ChEBI] xref: Beilstein:4689958 {source="ChemIDplus"} xref: CAS:38966-21-1 {source="ChemIDplus"} xref: CAS:38966-21-1 {source="KEGG COMPOUND"} xref: ChEMBL:139198 xref: ChemIDplus:38966-21-1 xref: ChemIDplus:4689958 xref: Chemspider:10280269 xref: CiteXplore:19735659 xref: CiteXplore:21212237 xref: CiteXplore:21444690 xref: CiteXplore:21708134 xref: CiteXplore:21812410 xref: CiteXplore:21897020 xref: CiteXplore:21917855 xref: CiteXplore:22139884 xref: CiteXplore:22210918 xref: CiteXplore:22262459 xref: CiteXplore:22293751 xref: CiteXplore:22302683 xref: CiteXplore:22339690 xref: CiteXplore:22365495 xref: KEGG COMPOUND:38966-21-1 xref: KEGG COMPOUND:C06088 xref: KEGG:C06088 xref: KNApSAcK:C00000873 xref: LINCS:LSM-45486 xref: MeSH:D016590 xref: MetaCyc:CPD-11426 xref: Patent:US3761512 xref: PDBeChem:2ZE xref: PMID:10592317 {source="Europe PMC"} xref: PMID:1483268 {source="Europe PMC"} xref: PMID:19735659 {source="Europe PMC"} xref: PMID:21212237 {source="Europe PMC"} xref: PMID:21444690 {source="Europe PMC"} xref: PMID:21708134 {source="Europe PMC"} xref: PMID:21812410 {source="Europe PMC"} xref: PMID:21897020 {source="Europe PMC"} xref: PMID:21917855 {source="Europe PMC"} xref: PMID:22139884 {source="Europe PMC"} xref: PMID:22210918 {source="Europe PMC"} xref: PMID:22262459 {source="Europe PMC"} xref: PMID:22293751 {source="Europe PMC"} xref: PMID:22302683 {source="Europe PMC"} xref: PMID:22339690 {source="Europe PMC"} xref: PMID:22365495 {source="Europe PMC"} xref: PMID:23221037 {source="Europe PMC"} xref: PMID:24492257 {source="Europe PMC"} xref: PMID:25429975 {source="Europe PMC"} xref: PMID:25948499 {source="Europe PMC"} xref: PMID:26255574 {source="Europe PMC"} xref: PMID:26854444 {source="Europe PMC"} xref: PMID:27223263 {source="Europe PMC"} xref: PMID:27265376 {source="Europe PMC"} xref: PMID:29191129 {source="Europe PMC"} xref: PMID:31403790 {source="Europe PMC"} xref: PMID:31448675 {source="Europe PMC"} xref: PMID:31712575 {source="Europe PMC"} xref: PMID:32394671 {source="Europe PMC"} xref: PMID:33592314 {source="Europe PMC"} xref: PMID:33721476 {source="Europe PMC"} xref: PMID:7478586 {source="Europe PMC"} xref: Reaxys:2055641 {source="Reaxys"} xref: Wikipedia:Aphidicolin is_a: CHEBI:24913 ! isoprenoid relationship: has_role CHEBI:33281 ! antimicrobial agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H34O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H34O4/c1-17(11-21)15-4-3-13-9-14-10-19(13,7-8-20(14,24)12-22)18(15,2)6-5-16(17)23/h13-16,21-24H,3-12H2,1-2H3/t13-,14+,15-,16+,17-,18-,19-,20-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NOFOAYPPHIUXJR-APNQCZIXSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "338.488" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "338.24571" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]12C[C@@H]3C[C@]1(CC[C@]3(O)CO)[C@@]1(C)CC[C@@H](O)[C@@](C)(CO)[C@]1([H])CC2" xsd:string [Term] id: CHEBI:27666 name: actinomycin D namespace: chebi_ontology alt_id: CHEBI:22218 alt_id: CHEBI:2446 subset: 3_STAR synonym: "2-amino-4,6-dimethyl-3-oxo-1-N,9-N-bis-[(18aS)-10c,14,17-trimethyl-5,8,12,15,18-pentaoxo-6c,13t-di(propan-2-yl)-18ar-hexadecahydro-1H-pyrrolo[2,1-i][1,4,7,10,13]oxatetraazacyclohexadecin-9c-yl]-3H-phenoxazine-1,9-dicarboxamide" EXACT IUPAC_NAME [IUPAC] synonym: "2-amino-N,N'-bis(hexadecahydro-2,5,9-trimethyl-6,13-bis(1-methylethyl)-1,4,7,11,14-pentaoxo-1H-pyrrolo(2,1-i)(1,4,7,10,13)oxatetra-azacyclohexadecin-10-yl)-4,6-dimethyl-3-oxo-3H-phenoxazine-1,9-dicarboxamide" RELATED [ChemIDplus] synonym: "ActD" RELATED [ChEBI] synonym: "actinomycin C1" RELATED [ChEBI] synonym: "Actinomycin D" EXACT [KEGG_COMPOUND] synonym: "actinomycin IV" RELATED [ChemIDplus] synonym: "Dactinomycin" RELATED [KEGG_COMPOUND] xref: Beilstein:4173766 {source="Beilstein"} xref: CAS:50-76-0 {source="ChemIDplus"} xref: CAS:50-76-0 {source="KEGG COMPOUND"} xref: Drug_Central:774 {source="DrugCentral"} xref: DrugBank:DB00970 xref: KEGG:C06770 xref: KEGG:D00214 xref: LINCS:LSM-5783 xref: MeSH:D003609 xref: NCIt:C412 xref: SNOMEDCT:387353003 xref: SNOMEDCT:64127001 xref: Wikipedia:Dactinomycin is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:25435 ! mutagen relationship: has_role CHEBI:33281 ! antimicrobial agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C62H86N12O16" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C62H86N12O16/c1-27(2)42-59(84)73-23-17-19-36(73)57(82)69(13)25-38(75)71(15)48(29(5)6)61(86)88-33(11)44(55(80)65-42)67-53(78)35-22-21-31(9)51-46(35)64-47-40(41(63)50(77)32(10)52(47)90-51)54(79)68-45-34(12)89-62(87)49(30(7)8)72(16)39(76)26-70(14)58(83)37-20-18-24-74(37)60(85)43(28(3)4)66-56(45)81/h21-22,27-30,33-34,36-37,42-45,48-49H,17-20,23-26,63H2,1-16H3,(H,65,80)(H,66,81)(H,67,78)(H,68,79)/t33-,34-,36+,37+,42-,43-,44+,45+,48+,49+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RJURFGZVJUQBHK-IIXSONLDSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "1255.41700" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "1254.62847" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12CCCN1C(=O)[C@H](NC(=O)[C@@H](NC(=O)c1ccc(C)c3oc4c(C)c(=O)c(N)c(C(=O)N[C@H]5[C@@H](C)OC(=O)[C@H](C(C)C)N(C)C(=O)CN(C)C(=O)[C@]6([H])CCCN6C(=O)[C@H](NC5=O)C(C)C)c4nc13)[C@@H](C)OC(=O)[C@H](C(C)C)N(C)C(=O)CN(C)C2=O)C(C)C" xsd:string [Term] id: CHEBI:27689 name: decanoate namespace: chebi_ontology alt_id: CHEBI:125804 alt_id: CHEBI:23570 def: "A fatty acid anion 10:0 that is the conjugate base of decanoic acid." [] subset: 3_STAR synonym: "1-nonanecarboxylate" RELATED [ChEBI] synonym: "caprate" RELATED [ChEBI] synonym: "caprinate" RELATED [ChEBI] synonym: "caprynate" RELATED [ChEBI] synonym: "CH3-[CH2]8-COO(-)" RELATED [IUPAC] synonym: "decanoate" EXACT [UniProt] synonym: "decanoate" EXACT IUPAC_NAME [IUPAC] synonym: "decanoic acid anion" RELATED [ChEBI] synonym: "decoate" RELATED [ChEBI] synonym: "decylate" RELATED [ChEBI] synonym: "n-caprate" RELATED [ChEBI] synonym: "n-decanoate" RELATED [ChEBI] synonym: "n-decoate" RELATED [ChEBI] synonym: "n-decylate" RELATED [ChEBI] synonym: "nC9H19CO2 anion" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:3538146 {source="Beilstein"} xref: Gmelin:330643 {source="Gmelin"} xref: KEGG:C01571 xref: MetaCyc:CPD-3617 xref: Reaxys:3538146 {source="Reaxys"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H19O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H20O2/c1-2-3-4-5-6-7-8-9-10(11)12/h2-9H2,1H3,(H,11,12)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GHVNFZFCNZKVNT-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "171.25670" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "171.13905" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCCCC([O-])=O" xsd:string [Term] id: CHEBI:27690 name: acetazolamide namespace: chebi_ontology alt_id: CHEBI:22167 alt_id: CHEBI:22168 alt_id: CHEBI:2388 alt_id: CHEBI:41007 subset: 3_STAR synonym: "2-acetylamino-1,3,4-thiadiazole-5-sulfonamide" RELATED [NIST_Chemistry_WebBook] synonym: "5-ACETAMIDO-1,3,4-THIADIAZOLE-2-SULFONAMIDE" RELATED [PDBeChem] synonym: "5-acetylamino-1,3,4-thiadiazole-2-sulfonamide" RELATED [ChEBI] synonym: "acetazolamida" RELATED INN [ChemIDplus] synonym: "Acetazolamide" EXACT [KEGG_COMPOUND] synonym: "acetazolamide" RELATED INN [ChEBI] synonym: "acetazolamidum" RELATED INN [ChemIDplus] synonym: "Defiltran" RELATED BRAND_NAME [DrugBank] synonym: "Diacarb" RELATED BRAND_NAME [DrugBank] synonym: "Diamox" RELATED [ChemIDplus] synonym: "Diluran" RELATED BRAND_NAME [DrugBank] synonym: "Glaupax" RELATED BRAND_NAME [DrugBank] synonym: "N-(5-sulfamoyl-1,3,4-thiadiazol-2-yl)acetamide" EXACT IUPAC_NAME [IUPAC] synonym: "N-[5-(aminosulfonyl)-1,3,4-thiadiazol-2-yl]acetamide" RELATED [NIST_Chemistry_WebBook] synonym: "N-[5-(aminosulfonyl)-1,3,5-thiadiazol-2-yl]acetamide" RELATED [ChEBI] xref: Beilstein:212994 {source="Beilstein"} xref: CAS:59-66-5 {source="KEGG COMPOUND"} xref: CAS:59-66-5 {source="NIST Chemistry WebBook"} xref: CAS:59-66-5 {source="ChemIDplus"} xref: Drug_Central:56 {source="DrugCentral"} xref: DrugBank:DB00819 xref: Gmelin:365421 {source="Gmelin"} xref: KEGG:C06805 xref: KEGG:D00218 xref: LINCS:LSM-5543 xref: Patent:US2554816 xref: PDBeChem:AZM xref: Wikipedia:Acetazolamide is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H6N4O3S2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H6N4O3S2/c1-2(9)6-3-7-8-4(12-3)13(5,10)11/h1H3,(H2,5,10,11)(H,6,7,9)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BZKPWHYZMXOIDC-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "222.24500" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "221.98813" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(=O)Nc1nnc(s1)S(N)(=O)=O" xsd:string [Term] id: CHEBI:27698 name: vanadium atom namespace: chebi_ontology alt_id: CHEBI:27274 alt_id: CHEBI:9930 subset: 3_STAR synonym: "23V" RELATED [IUPAC] synonym: "V" RELATED [KEGG_COMPOUND] synonym: "V" RELATED [IUPAC] synonym: "vanadio" RELATED [ChEBI] synonym: "Vanadium" RELATED [KEGG_COMPOUND] synonym: "vanadium" EXACT IUPAC_NAME [IUPAC] synonym: "vanadium" RELATED [ChEBI] xref: CAS:7440-62-2 {source="KEGG COMPOUND"} xref: CAS:7440-62-2 {source="NIST Chemistry WebBook"} xref: CAS:7440-62-2 {source="ChemIDplus"} xref: KEGG:C06267 xref: MeSH:D014639 xref: SNOMEDCT:18925001 xref: WebElements:V is_a: CHEBI:33250 ! atom relationship: has_role CHEBI:27027 ! micronutrient property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "V" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/V" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LEONUFNNVUYDNQ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "50.94150" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "50.94396" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[V]" xsd:string [Term] id: CHEBI:27732 name: caffeine namespace: chebi_ontology alt_id: CHEBI:22982 alt_id: CHEBI:3295 alt_id: CHEBI:41472 def: "A trimethylxanthine in which the three methyl groups are located at positions 1, 3, and 7. A purine alkaloid that occurs naturally in tea and coffee." [] subset: 3_STAR synonym: "1,3,7-trimethyl-2,6-dioxopurine" RELATED [ChemIDplus] synonym: "1,3,7-trimethyl-3,7-dihydro-1H-purine-2,6-dione" EXACT IUPAC_NAME [IUPAC] synonym: "1,3,7-trimethylpurine-2,6-dione" RELATED [IUPHAR] synonym: "1,3,7-Trimethylxanthine" RELATED [KEGG_COMPOUND] synonym: "1,3,7-trimethylxanthine" RELATED [NIST_Chemistry_WebBook] synonym: "1-methyltheobromine" RELATED [ChemIDplus] synonym: "3,7-Dihydro-1,3,7-trimethyl-1H-purin-2,6-dion" RELATED [NIST_Chemistry_WebBook] synonym: "7-methyltheophylline" RELATED [NIST_Chemistry_WebBook] synonym: "anhydrous caffeine" RELATED [KEGG_DRUG] synonym: "cafeina" RELATED [ChemIDplus] synonym: "cafeine" RELATED [ChEBI] synonym: "CAFFEINE" EXACT [PDBeChem] synonym: "Caffeine" EXACT [KEGG_COMPOUND] synonym: "caffeine" EXACT [UniProt] synonym: "Coffein" RELATED [ChemIDplus] synonym: "guaranine" RELATED [IUPHAR] synonym: "Koffein" RELATED [ChemIDplus] synonym: "mateina" RELATED [ChemIDplus] synonym: "methyltheobromine" RELATED [IUPHAR] synonym: "teina" RELATED [ChEBI] synonym: "Thein" RELATED [ChemIDplus] synonym: "theine" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:17705 {source="Beilstein"} xref: CAS:58-08-2 {source="NIST Chemistry WebBook"} xref: CAS:58-08-2 {source="ChemIDplus"} xref: CAS:58-08-2 {source="KEGG COMPOUND"} xref: Drug_Central:463 {source="DrugCentral"} xref: DrugBank:DB00201 xref: Gmelin:103040 {source="Gmelin"} xref: HMDB:HMDB0001847 xref: KEGG:C07481 xref: KEGG:D00528 xref: KNApSAcK:C00001492 xref: LINCS:LSM-2026 xref: MeSH:D002110 xref: MetaCyc:1-3-7-TRIMETHYLXANTHINE xref: NCIt:C328 xref: PDBeChem:CFF xref: PMID:10510174 {source="Europe PMC"} xref: PMID:10796597 {source="Europe PMC"} xref: PMID:10803761 {source="Europe PMC"} xref: PMID:10822912 {source="Europe PMC"} xref: PMID:10884512 {source="Europe PMC"} xref: PMID:10924888 {source="Europe PMC"} xref: PMID:10983026 {source="Europe PMC"} xref: PMID:11014293 {source="Europe PMC"} xref: PMID:11022879 {source="Europe PMC"} xref: PMID:11209966 {source="Europe PMC"} xref: PMID:11312039 {source="Europe PMC"} xref: PMID:11410911 {source="Europe PMC"} xref: PMID:11431501 {source="Europe PMC"} xref: PMID:11815511 {source="Europe PMC"} xref: PMID:11949272 {source="Europe PMC"} xref: PMID:12397877 {source="Europe PMC"} xref: PMID:12457274 {source="Europe PMC"} xref: PMID:12574990 {source="Europe PMC"} xref: PMID:12915014 {source="Europe PMC"} xref: PMID:12943586 {source="Europe PMC"} xref: PMID:14521986 {source="Europe PMC"} xref: PMID:14607010 {source="Europe PMC"} xref: PMID:15257305 {source="Europe PMC"} xref: PMID:15280431 {source="Europe PMC"} xref: PMID:15681408 {source="Europe PMC"} xref: PMID:15718055 {source="Europe PMC"} xref: PMID:15840517 {source="Europe PMC"} xref: PMID:16143823 {source="Europe PMC"} xref: PMID:16391865 {source="Europe PMC"} xref: PMID:16528931 {source="Europe PMC"} xref: PMID:16644114 {source="Europe PMC"} xref: PMID:16709440 {source="Europe PMC"} xref: PMID:16805851 {source="Europe PMC"} xref: PMID:16856769 {source="Europe PMC"} xref: PMID:17132260 {source="Europe PMC"} xref: PMID:17387608 {source="Europe PMC"} xref: PMID:17508167 {source="Europe PMC"} xref: PMID:17724925 {source="Europe PMC"} xref: PMID:17932622 {source="Europe PMC"} xref: PMID:17957400 {source="Europe PMC"} xref: PMID:18068204 {source="Europe PMC"} xref: PMID:18258404 {source="Europe PMC"} xref: PMID:18421070 {source="Europe PMC"} xref: PMID:18513215 {source="Europe PMC"} xref: PMID:18625110 {source="Europe PMC"} xref: PMID:18647558 {source="Europe PMC"} xref: PMID:19007524 {source="Europe PMC"} xref: PMID:19047957 {source="Europe PMC"} xref: PMID:19084078 {source="Europe PMC"} xref: PMID:19088793 {source="Europe PMC"} xref: PMID:19418355 {source="Europe PMC"} xref: PMID:19879252 {source="Europe PMC"} xref: PMID:20164568 {source="Europe PMC"} xref: PMID:20470411 {source="Europe PMC"} xref: PMID:22114686 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: PMID:23551936 {source="Europe PMC"} xref: PMID:24039592 {source="Europe PMC"} xref: PMID:7441110 {source="Europe PMC"} xref: PMID:7689104 {source="Europe PMC"} xref: PMID:8332255 {source="Europe PMC"} xref: PMID:8347173 {source="Europe PMC"} xref: PMID:8679661 {source="Europe PMC"} xref: PMID:9063686 {source="Europe PMC"} xref: PMID:9067318 {source="Europe PMC"} xref: PMID:9132918 {source="Europe PMC"} xref: PMID:9218278 {source="Europe PMC"} xref: Reaxys:17705 {source="Reaxys"} xref: SNOMEDCT:255641001 xref: SNOMEDCT:91107009 xref: Wikipedia:Caffeine is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H10N4O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H10N4O2/c1-10-4-9-6-5(10)7(13)12(3)8(14)11(6)2/h4H,1-3H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RYYVLZVUVIJVGH-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "194.19076" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "194.08038" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cn1cnc2n(C)c(=O)n(C)c(=O)c12" xsd:string [Term] id: CHEBI:27744 name: glyphosate namespace: chebi_ontology alt_id: CHEBI:24423 alt_id: CHEBI:43013 alt_id: CHEBI:5510 def: "A phosphonic acid resulting from the formal oxidative coupling of the methyl group of methylphosphonic acid with the amino group of glycine. It is one of the most commonly used herbicides worldwide, and the only one to target the enzyme 5-enolpyruvyl-3-shikimate phosphate synthase (EPSPS)." [] subset: 3_STAR synonym: "Glyphosate" EXACT [KEGG_COMPOUND] synonym: "N-(phosphonomethyl)glycine" EXACT IUPAC_NAME [IUPAC] synonym: "Roundup" RELATED BRAND_NAME [KEGG_COMPOUND] xref: Beilstein:2045054 {source="Beilstein"} xref: CAS:1071-83-6 {source="KEGG COMPOUND"} xref: CAS:1071-83-6 {source="Alan Wood's Pesticides"} xref: CAS:1071-83-6 {source="ChemIDplus"} xref: DrugBank:DB04539 xref: Gmelin:279222 {source="Gmelin"} xref: KEGG:C01705 xref: MeSH:C010974 xref: NCIt:C21521 xref: PDBeChem:GPF xref: PDBeChem:GPJ xref: Pesticides:glyphosate {source="Alan Wood's Pesticides"} xref: PMID:27758090 {source="Europe PMC"} xref: PMID:28266132 {source="Europe PMC"} xref: PMID:28474816 {source="Europe PMC"} xref: PMID:28643882 {source="Europe PMC"} xref: PMID:28711546 {source="Europe PMC"} xref: PMID:30471482 {source="Europe PMC"} xref: PMID:30875550 {source="Europe PMC"} xref: PMID:31030151 {source="Europe PMC"} xref: PMID:31342895 {source="Europe PMC"} xref: PPDB:373 xref: SNOMEDCT:311727006 xref: UM-BBD_compID:c0134 {source="UM-BBD"} xref: Wikipedia:Glyphosate is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:33286 ! agrochemical property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H8NO5P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H8NO5P/c5-3(6)1-4-2-10(7,8)9/h4H,1-2H2,(H,5,6)(H2,7,8,9)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XDDAORKBJWWYJS-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "169.07310" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "169.01401" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)CNCP(O)(O)=O" xsd:string [Term] id: CHEBI:27779 name: griseofulvin namespace: chebi_ontology alt_id: CHEBI:24429 alt_id: CHEBI:5546 def: "An oxaspiro compound produced by Penicillium griseofulvum. It is used by mouth as an antifungal drug for infections involving the scalp, hair, nails and skin that do not respond to topical treatment." [] subset: 3_STAR synonym: "(+)-griseofulvin" RELATED [NIST_Chemistry_WebBook] synonym: "(2S,6'R)-7-chloro-2',4,6-trimethoxy-6'-methyl-3H,4'H-spiro[1-benzofuran-2,1'-cyclohex[2]ene]-3,4'-dione" EXACT IUPAC_NAME [IUPAC] synonym: "amudane" RELATED [NIST_Chemistry_WebBook] synonym: "Curling factor" RELATED BRAND_NAME [DrugBank] synonym: "Fulcin" RELATED BRAND_NAME [DrugBank] synonym: "Fulvicin" RELATED BRAND_NAME [DrugBank] synonym: "Grifulvin" RELATED BRAND_NAME [DrugBank] synonym: "Grisactin" RELATED BRAND_NAME [DrugBank] synonym: "Griseofulvin" EXACT [KEGG_COMPOUND] synonym: "griseofulvin" EXACT [UniProt] synonym: "griseofulvin" RELATED INN [KEGG_DRUG] synonym: "griseofulvina" RELATED INN [ChemIDplus] synonym: "griseofulvine" RELATED INN [ChemIDplus] synonym: "griseofulvinum" RELATED INN [ChemIDplus] synonym: "Grisovin" RELATED BRAND_NAME [DrugBank] synonym: "Grysio" RELATED BRAND_NAME [DrugBank] synonym: "Lamoryl" RELATED BRAND_NAME [DrugBank] synonym: "Likuden" RELATED BRAND_NAME [DrugBank] synonym: "Poncyl" RELATED BRAND_NAME [DrugBank] synonym: "Spirofulvin" RELATED BRAND_NAME [DrugBank] synonym: "Sporostatin" RELATED BRAND_NAME [DrugBank] xref: Beilstein:95226 {source="Beilstein"} xref: CAS:126-07-8 {source="ChemIDplus"} xref: CAS:126-07-8 {source="NIST Chemistry WebBook"} xref: CAS:126-07-8 {source="KEGG COMPOUND"} xref: Drug_Central:1331 {source="DrugCentral"} xref: DrugBank:DB00400 xref: KEGG:C06686 xref: KEGG:D00209 xref: KNApSAcK:C00002398 xref: LINCS:LSM-5259 xref: LIPID_MAPS_instance:LMPK13060001 {source="LIPID MAPS"} xref: MetaCyc:CPD-17786 xref: Patent:US3069328 xref: Patent:US3069329 xref: PMID:14407521 {source="Europe PMC"} xref: PMID:15078340 {source="Europe PMC"} xref: PMID:16922553 {source="Europe PMC"} xref: PMID:23111828 {source="Europe PMC"} xref: PMID:25476923 {source="Europe PMC"} xref: PMID:3277037 {source="Europe PMC"} xref: PPDB:1807 xref: Reaxys:95226 {source="Reaxys"} xref: VSDB:1807 xref: Wikipedia:Griseofulvin is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C17H17ClO6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C17H17ClO6/c1-8-5-9(19)6-12(23-4)17(8)16(20)13-10(21-2)7-11(22-3)14(18)15(13)24-17/h6-8H,5H2,1-4H3/t8-,17+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DDUHZTYCFQRHIY-RBHXEPJQSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "352.76598" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "352.07137" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "COc1cc(OC)c2C(=O)[C@]3(Oc2c1Cl)[C@H](C)CC(=O)C=C3OC" xsd:string [Term] id: CHEBI:27780 name: detergent namespace: chebi_ontology alt_id: CHEBI:23648 alt_id: CHEBI:4456 def: "A surfactant (or a mixture containing one or more surfactants) having cleaning properties in dilute solutions." [] subset: 3_STAR synonym: "detergent" EXACT IUPAC_NAME [IUPAC] synonym: "Detergents" RELATED [KEGG_COMPOUND] xref: KEGG:C01689 is_a: CHEBI:33232 ! application is_a: CHEBI:35195 ! surfactant relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:27823 name: (5-hydroxyindol-3-yl)acetic acid namespace: chebi_ontology alt_id: CHEBI:20585 alt_id: CHEBI:2071 def: "A member of the class of indole-3-acetic acids that is indole-3-acetic acid substituted by a hydroxy group at C-5." [] subset: 3_STAR synonym: "(5-hydroxy-1H-indol-3-yl)acetic acid" EXACT IUPAC_NAME [IUPAC] synonym: "5-HIAA" RELATED [HMDB] synonym: "5-Hydroxy-1H-indole-3-acetic acid" RELATED [ChemIDplus] synonym: "5-Hydroxyindol-3-ylacetic acid" RELATED [ChemIDplus] synonym: "5-Hydroxyindole-3-acetic acid" RELATED [ChemIDplus] synonym: "5-Hydroxyindoleacetic acid" RELATED [HMDB] xref: Beilstein:168797 {source="Beilstein"} xref: CAS:54-16-0 {source="ChemIDplus"} xref: HMDB:HMDB0000763 xref: KEGG:C05635 xref: KNApSAcK:C00000104 xref: MetaCyc:5-HYDROXYINDOLE_ACETATE xref: PMID:11063613 {source="Europe PMC"} xref: PMID:11113939 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: Reaxys:168797 {source="Reaxys"} xref: Wikipedia:5-Hydroxyindoleacetic_acid is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H9NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H9NO3/c12-7-1-2-9-8(4-7)6(5-11-9)3-10(13)14/h1-2,4-5,11-12H,3H2,(H,13,14)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DUUGKQCEGZLZNO-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "191.18340" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "191.05824" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)Cc1c[nH]c2ccc(O)cc12" xsd:string [Term] id: CHEBI:27881 name: resveratrol namespace: chebi_ontology alt_id: CHEBI:11685 alt_id: CHEBI:1366 alt_id: CHEBI:19867 def: "A stilbenol that is stilbene in which the phenyl groups are substituted at positions 3, 5, and 4' by hydroxy groups." [] subset: 3_STAR synonym: "3,4',5-Trihydroxystilbene" RELATED [KEGG_COMPOUND] synonym: "5-[2-(4-hydroxyphenyl)ethenyl]benzene-1,3-diol" EXACT IUPAC_NAME [IUPAC] synonym: "Resveratrol" EXACT [KEGG_COMPOUND] xref: Beilstein:1912433 {source="Beilstein"} xref: CAS:501-36-0 {source="KEGG COMPOUND"} xref: DrugBank:DB02709 xref: KEGG:C03582 xref: LINCS:LSM-2557 xref: MeSH:C059514 xref: NCIt:C1215 xref: PMID:12939617 {source="Europe PMC"} xref: PMID:16461283 {source="Europe PMC"} xref: SNOMEDCT:96383001 is_a: CHEBI:33853 ! phenols relationship: has_role CHEBI:27026 ! toxin property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C14H12O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C14H12O3/c15-12-5-3-10(4-6-12)1-2-11-7-13(16)9-14(17)8-11/h1-9,15-17H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LUKBXSAWLPMMSZ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "228.24328" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "228.07864" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H]C(=C([H])c1cc(O)cc(O)c1)c1ccc(O)cc1" xsd:string [Term] id: CHEBI:27891 name: S-sulfo-L-cysteine namespace: chebi_ontology alt_id: CHEBI:22075 alt_id: CHEBI:8974 def: "An S-substituted L-cysteine where the S-substituent is specified as a sulfo group." [] subset: 3_STAR synonym: "3-(sulfosulfanyl)-L-alanine" EXACT IUPAC_NAME [IUPAC] synonym: "Cysteine-S-sulfate" RELATED [ChemIDplus] synonym: "Cysteine-S-sulfonate" RELATED [ChemIDplus] synonym: "Cysteinyl-S-sulfonate" RELATED [ChemIDplus] synonym: "Cysteinyl-S-sulfonic acid" RELATED [ChemIDplus] synonym: "L-Cysteine hydrogen sulfate" RELATED [ChemIDplus] synonym: "L-cysteine S-sulfate" RELATED [ChEBI] synonym: "S-Sulfo-L-cysteine" EXACT [KEGG_COMPOUND] synonym: "S-Sulfocysteine" RELATED [ChemIDplus] synonym: "S-sulfocysteine" RELATED [ChEBI] synonym: "S-sulpho-L-cysteine" RELATED [ChEBI] synonym: "S-Sulphocysteine" RELATED [ChemIDplus] xref: CAS:1637-71-4 {source="ChemIDplus"} xref: CAS:1637-71-4 {source="KEGG COMPOUND"} xref: KEGG:C05824 xref: PDBeChem:CSU xref: PMID:20179139 {source="Europe PMC"} xref: PMID:23392866 {source="Europe PMC"} xref: PMID:23430915 {source="Europe PMC"} xref: PMID:24285094 {source="Europe PMC"} xref: PMID:962465 {source="Europe PMC"} xref: Reaxys:1726832 {source="Reaxys"} is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H7NO5S2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H7NO5S2/c4-2(3(5)6)1-10-11(7,8)9/h2H,1,4H2,(H,5,6)(H,7,8,9)/t2-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NOKPBJYHPHHWAN-REOHCLBHSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "201.22100" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "200.97656" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "N[C@@H](CSS(O)(=O)=O)C(O)=O" xsd:string [Term] id: CHEBI:27897 name: tryptophan namespace: chebi_ontology alt_id: CHEBI:27163 alt_id: CHEBI:9769 def: "An alpha-amino acid that is alanine bearing an indol-3-yl substituent at position 3." [] subset: 3_STAR synonym: "2-amino-3-(1H-indol-3-yl)propanoic acid" RELATED [IUPAC] synonym: "alpha-Amino-beta-(3-indolyl)-propionic acid" RELATED [KEGG_COMPOUND] synonym: "alpha-amino-beta-3-indolepropionic acid" RELATED [ChEBI] synonym: "beta-3-indolylalanine" RELATED [ChEBI] synonym: "Htrp" RELATED [IUPAC] synonym: "triptofano" RELATED [ChEBI] synonym: "Trp" RELATED [ChEBI] synonym: "Tryptophan" EXACT [KEGG_COMPOUND] synonym: "tryptophan" EXACT IUPAC_NAME [IUPAC] synonym: "tryptophane" RELATED [ChEBI] synonym: "W" RELATED [ChEBI] xref: Beilstein:86196 {source="Beilstein"} xref: CAS:54-12-6 {source="KEGG COMPOUND"} xref: CAS:54-12-6 {source="ChemIDplus"} xref: CAS:54-12-6 {source="NIST Chemistry WebBook"} xref: ChemIDplus:54-12-6 xref: Gmelin:4532 {source="Gmelin"} xref: KEGG:C00806 xref: KNApSAcK:C00001396 xref: LINCS:LSM-36836 xref: PMID:17439666 {source="Europe PMC"} xref: PMID:22264337 {source="Europe PMC"} xref: Reaxys:86196 {source="Reaxys"} xref: Wikipedia:Tryptophan is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C11H12N2O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C11H12N2O2/c12-9(11(14)15)5-7-6-13-10-4-2-1-3-8(7)10/h1-4,6,9,13H,5,12H2,(H,14,15)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QIVBCDIJIAJPQS-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "204.22526" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "204.08988" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NC(Cc1c[nH]c2ccccc12)C(O)=O" xsd:string [Term] id: CHEBI:27899 name: cisplatin namespace: chebi_ontology alt_id: CHEBI:23314 alt_id: CHEBI:3722 def: "A diamminedichloroplatinum compound in which the two ammine ligands and two chloro ligands are oriented in a cis planar configuration around the central platinum ion. An anticancer drug that interacts with, and forms cross-links between, DNA and proteins, it is used as a neoplasm inhibitor to treat solid tumours, primarily of the testis and ovary. Commonly but incorrectly described as an alkylating agent due to its mechanism of action (but it lacks alkyl groups)." [] subset: 3_STAR synonym: "(SP-4-2)-diamminedichloridoplatinum" EXACT IUPAC_NAME [IUPAC] synonym: "(SP-4-2)-diamminedichloroplatinum" EXACT IUPAC_NAME [IUPAC] synonym: "[PtCl2(NH3)2]" RELATED [KEGG_COMPOUND] synonym: "Briplatin" RELATED BRAND_NAME [ChemIDplus] synonym: "CDDP" RELATED [KEGG_COMPOUND] synonym: "cis-[PtCl2(NH3)2]" RELATED [MolBase] synonym: "cis-DDP" RELATED [ChemIDplus] synonym: "cis-diamminedichloridoplatinum(II)" EXACT IUPAC_NAME [IUPAC] synonym: "cis-diamminedichloroplatinum" RELATED [ChemIDplus] synonym: "cis-Diamminedichloroplatinum(II)" RELATED [KEGG_COMPOUND] synonym: "cis-diamminedichloroplatinum(II)" EXACT IUPAC_NAME [IUPAC] synonym: "cis-diammineplatinum(II) dichloride" RELATED [ChemIDplus] synonym: "cis-dichlorodiammineplatinum(II)" RELATED [ChemIDplus] synonym: "cis-platin" RELATED [ChEBI] synonym: "Cismaplat" RELATED BRAND_NAME [DrugBank] synonym: "Cisplatin" EXACT [KEGG_COMPOUND] synonym: "cisplatin" RELATED INN [ChemIDplus] synonym: "cisplatine" RELATED INN [ChemIDplus] synonym: "cisplatino" RELATED INN [ChemIDplus] synonym: "cisplatinum" RELATED INN [ChemIDplus] synonym: "Lederplatin" RELATED BRAND_NAME [DrugBank] synonym: "Neoplatin" RELATED BRAND_NAME [DrugBank] synonym: "Peyrone's chloride" RELATED [ChemIDplus] synonym: "Peyrone's salt" RELATED [ChEBI] synonym: "Platamine" RELATED [DrugBank] synonym: "Platinex" RELATED BRAND_NAME [DrugBank] synonym: "Platinol" RELATED BRAND_NAME [KEGG_DRUG] synonym: "Randa" RELATED BRAND_NAME [DrugBank] xref: CAS:15663-27-1 {source="ChemIDplus"} xref: CAS:15663-27-1 {source="KEGG COMPOUND"} xref: ChEMBL:428069 xref: ChemIDplus:15663-27-1 xref: DrugBank:DB00515 xref: Gmelin:2519 {source="Gmelin"} xref: HMDB:HMDB0014656 xref: KEGG COMPOUND:15663-27-1 xref: KEGG COMPOUND:C06911 xref: KEGG DRUG:D00275 xref: KEGG:C06911 xref: KEGG:D00275 xref: MeSH:D002945 xref: MetaCyc:CPD0-1392 xref: MolBase:25 xref: NCIt:C376 xref: Patent:DE2318020 xref: Patent:DE2329485 xref: PMID:10883661 {source="Europe PMC"} xref: PMID:12537968 {source="Europe PMC"} xref: PMID:12831510 {source="Europe PMC"} xref: PMID:12935404 {source="Europe PMC"} xref: PMID:16327988 {source="Europe PMC"} xref: PMID:18472761 {source="Europe PMC"} xref: PMID:1855275 {source="Europe PMC"} xref: PMID:23554447 {source="Europe PMC"} xref: PMID:23604226 {source="Europe PMC"} xref: PMID:23651576 {source="Europe PMC"} xref: PMID:28494534 {source="Europe PMC"} xref: Reaxys:11324567 {source="Reaxys"} xref: SNOMEDCT:387318005 xref: SNOMEDCT:57066004 xref: Wikipedia:Cisplatin is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:25435 ! mutagen relationship: has_role CHEBI:35610 ! antineoplastic agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "Cl2H6N2Pt" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "H6Cl2N2Pt" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/2ClH.2H3N.Pt/h2*1H;2*1H3;/q;;;;+2/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LXZZYRPGZAFOLE-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "300.04452" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "298.95560" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][N]([H])([H])[Pt](Cl)(Cl)[N]([H])([H])[H]" xsd:string [Term] id: CHEBI:27902 name: tetracycline namespace: chebi_ontology alt_id: CHEBI:26894 alt_id: CHEBI:45729 alt_id: CHEBI:9474 def: "A broad-spectrum polyketide antibiotic produced by the Streptomyces genus of actinobacteria." [] subset: 3_STAR synonym: "(4S,4aS,5aS,12aS)-4-(Dimethylamino)-1,4,4a,5,5a,6,11,12a-octahydro-3,6,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-2-naphthacenecarboxamide" RELATED [ChemIDplus] synonym: "(4S,4aS,5aS,6S,12aS)-4-(dimethylamino)-3,6,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide" EXACT IUPAC_NAME [IUPAC] synonym: "Abramycin" RELATED [ChemIDplus] synonym: "Achromycin" RELATED [ChEBI] synonym: "Anhydrotetracycline" RELATED [DrugBank] synonym: "Deschlorobiomycin" RELATED [ChemIDplus] synonym: "Liquamycin" RELATED [ChemIDplus] synonym: "Tetracyclin" RELATED [ChEBI] synonym: "TETRACYCLINE" EXACT [PDBeChem] synonym: "Tetracycline" EXACT [KEGG_COMPOUND] synonym: "tetracycline" EXACT [ChEBI] synonym: "tetracycline" RELATED INN [ChemIDplus] synonym: "tetracyclinum" RELATED INN [ChemIDplus] synonym: "Tetrazyklin" RELATED [ChEBI] synonym: "Tsiklomitsin" RELATED [ChemIDplus] xref: Beilstein:2230417 {source="Beilstein"} xref: CAS:60-54-8 {source="ChemIDplus"} xref: CAS:60-54-8 {source="KEGG COMPOUND"} xref: Drug_Central:2611 {source="DrugCentral"} xref: DrugBank:DB00759 xref: Gmelin:1103368 {source="Gmelin"} xref: KEGG:C06570 xref: KEGG:D00201 xref: MeSH:D013752 xref: MetaCyc:CPD0-1414 xref: NCIt:C865 xref: Patent:US2699054 xref: Patent:US2712517 xref: Patent:US2886595 xref: Patent:US3005023 xref: Patent:US3019173 xref: Patent:US3301899 xref: PDBeChem:TAC xref: PMID:11061623 {source="Europe PMC"} xref: PMID:11550419 {source="Europe PMC"} xref: PMID:11744940 {source="Europe PMC"} xref: PMID:12934399 {source="Europe PMC"} xref: PMID:14585720 {source="Europe PMC"} xref: PMID:15825421 {source="Europe PMC"} xref: PMID:15913752 {source="Europe PMC"} xref: PMID:16443056 {source="Europe PMC"} xref: PMID:1650428 {source="Europe PMC"} xref: PMID:16749547 {source="Europe PMC"} xref: PMID:17251127 {source="Europe PMC"} xref: PMID:17260506 {source="Europe PMC"} xref: PMID:18326855 {source="Europe PMC"} xref: PMID:18406588 {source="Europe PMC"} xref: PMID:19032078 {source="Europe PMC"} xref: PMID:19112759 {source="Europe PMC"} xref: PMID:19136803 {source="Europe PMC"} xref: PMID:25286144 {source="Europe PMC"} xref: PMID:26876942 {source="Europe PMC"} xref: Reaxys:2230417 {source="Reaxys"} xref: SNOMEDCT:372809001 xref: SNOMEDCT:66261008 xref: VSDB:1739 xref: Wikipedia:Tetracycline is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:33281 ! antimicrobial agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H24N2O8" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C22H24N2O8/c1-21(31)8-5-4-6-11(25)12(8)16(26)13-9(21)7-10-15(24(2)3)17(27)14(20(23)30)19(29)22(10,32)18(13)28/h4-6,9-10,15,25,27-28,31-32H,7H2,1-3H3,(H2,23,30)/t9-,10-,15-,21+,22-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OFVLGDICTFRJMM-WESIUVDSSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "444.43460" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "444.15327" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12C[C@@]3([H])C(C(=O)c4c(O)cccc4[C@@]3(C)O)=C(O)[C@]1(O)C(=O)C(C(N)=O)=C(O)[C@H]2N(C)C" xsd:string [Term] id: CHEBI:27905 name: phenyl hydrogen sulfate namespace: chebi_ontology alt_id: CHEBI:25967 alt_id: CHEBI:8072 def: "An aryl sulfate that is phenol bearing an O-sulfo substituent." [] subset: 3_STAR synonym: "Phenol sulfate" RELATED [KEGG_COMPOUND] synonym: "phenyl hydrogen sulfate" EXACT IUPAC_NAME [IUPAC] synonym: "phenylsulfate" RELATED [ChemIDplus] xref: Beilstein:2047161 {source="Beilstein"} xref: CAS:937-34-8 {source="ChemIDplus"} xref: CAS:937-34-8 {source="KEGG COMPOUND"} xref: HMDB:HMDB0060015 xref: KEGG:C02180 xref: PMID:12119069 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: PMID:22827565 {source="Europe PMC"} xref: PMID:25041144 {source="Europe PMC"} xref: Reaxys:2047161 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H6O4S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H6O4S/c7-11(8,9)10-6-4-2-1-3-5-6/h1-5H,(H,7,8,9)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CTYRPMDGLDAWRQ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "174.17544" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "173.99868" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OS(=O)(=O)Oc1ccccc1" xsd:string [Term] id: CHEBI:27958 name: cocaine namespace: chebi_ontology alt_id: CHEBI:23346 alt_id: CHEBI:3801 alt_id: CHEBI:41642 def: "A tropane alkaloid obtained from leaves of the South American shrub Erythroxylon coca." [] subset: 3_STAR synonym: "(-)-cocaine" RELATED [ChEBI] synonym: "(1R,2R,3S,5S)-2-(methoxycarbonyl)tropan-3-yl benzoate" EXACT IUPAC_NAME [IUPAC] synonym: "2-methyl-3beta-hydroxy-1alphaH,5alphaH-tropane-2beta-carboxylate benzoate (ester)" RELATED [NIST_Chemistry_WebBook] synonym: "[1R-(exo,exo)]-3-(benzoyloxy)-8-methyl-8-azabicyclo[3.2.1]octane-2-carboxylic acid, methyl ester" RELATED [NIST_Chemistry_WebBook] synonym: "Benzoylmethylecgonine" RELATED [ChemIDplus] synonym: "beta-Cocain" RELATED [KEGG_COMPOUND] synonym: "Cocain" RELATED [DrugBank] synonym: "Cocaina" RELATED [DrugBank] synonym: "COCAINE" EXACT [PDBeChem] synonym: "Cocaine" EXACT [KEGG_COMPOUND] synonym: "cocainum" RELATED [ChEBI] synonym: "Kokain" RELATED [ChemIDplus] synonym: "Kokain" RELATED [ChEBI] synonym: "l-Cocain" RELATED [KEGG_COMPOUND] synonym: "l-cocaine" RELATED [ChemIDplus] synonym: "methyl (1R,2R,3S,5S)-3-(benzoyloxy)-8-methyl-8-azabicyclo[3.2.1]octane-2-carboxylate" EXACT IUPAC_NAME [IUPAC] synonym: "methyl [1R-(exo,exo)]-3-(benzoyloxy)-8-methyl-8-azabicyclo[3.2.1]octane-2-carboxylate" RELATED [ChEBI] synonym: "methyl benzoylecgonine" RELATED [ChemIDplus] synonym: "Neurocaine" RELATED [ChemIDplus] xref: Beilstein:3621912 {source="Beilstein"} xref: Beilstein:5291037 {source="Beilstein"} xref: Beilstein:91034 {source="Beilstein"} xref: CAS:50-36-2 {source="NIST Chemistry WebBook"} xref: CAS:50-36-2 {source="ChemIDplus"} xref: CAS:50-36-2 {source="KEGG COMPOUND"} xref: Drug_Central:723 {source="DrugCentral"} xref: DrugBank:DB00907 xref: Gmelin:170209 {source="Gmelin"} xref: KEGG:C01416 xref: KEGG:D00110 xref: KNApSAcK:C00002285 xref: MeSH:D003042 xref: MetaCyc:CPD-9776 xref: NCIt:C80153 xref: PDBeChem:COC xref: PMID:11416615 {source="Europe PMC"} xref: PMID:11853120 {source="Europe PMC"} xref: PMID:14962054 {source="Europe PMC"} xref: PMID:17551070 {source="Europe PMC"} xref: PMID:19536276 {source="Europe PMC"} xref: PMID:21150772 {source="Europe PMC"} xref: PMID:25303034 {source="Europe PMC"} xref: Reaxys:5291037 {source="Reaxys"} xref: Reaxys:91034 {source="Reaxys"} xref: SNOMEDCT:14816004 xref: SNOMEDCT:387085005 xref: Wikipedia:Cocaine is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C17H21NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C17H21NO4/c1-18-12-8-9-13(18)15(17(20)21-2)14(10-12)22-16(19)11-6-4-3-5-7-11/h3-7,12-15H,8-10H2,1-2H3/t12-,13+,14-,15+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ZPUCINDJVBIVPJ-LJISPDSOSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "303.35290" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "303.14706" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]12CC[C@]([H])([C@H]([C@H](C1)OC(=O)c1ccccc1)C(=O)OC)N2C" xsd:string [Term] id: CHEBI:27971 name: 2-aminoisobutyric acid namespace: chebi_ontology alt_id: CHEBI:19446 alt_id: CHEBI:993 def: "A rare, non-protein amino acid and end-product of pyrimidine metabolism, excreted in urine and found in some antibiotics of fungal origin. With the exception of a few bacteria, it is non-metabolisable, and therefore used in bioassays." [] subset: 3_STAR synonym: "2,2-dimethylglycine" RELATED [ChEBI] synonym: "2-Amino-2-methylpropanoate" RELATED [KEGG_COMPOUND] synonym: "2-amino-2-methylpropanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "2-amino-2-methylpropionic acid" RELATED [ChemIDplus] synonym: "2-Aminoisobutyric acid" EXACT [KEGG_COMPOUND] synonym: "2-methylalanine" EXACT IUPAC_NAME [IUPAC] synonym: "2-methylalanine" RELATED [ChEBI] synonym: "2MA" RELATED [ChEBI] synonym: "AIB" RELATED [ChemIDplus] synonym: "Aib" RELATED [ChEBI] synonym: "alpha,alpha-dimethylglycine" RELATED [NIST_Chemistry_WebBook] synonym: "alpha-aminoisobutanoic acid" RELATED [NIST_Chemistry_WebBook] synonym: "alpha-aminoisobutyric acid" RELATED [NIST_Chemistry_WebBook] synonym: "alpha-methylalanine" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:506496 {source="Beilstein"} xref: CAS:62-57-7 {source="NIST Chemistry WebBook"} xref: CAS:62-57-7 {source="ChemIDplus"} xref: CAS:62-57-7 {source="KEGG COMPOUND"} xref: DrugBank:DB02952 xref: Gmelin:217765 {source="Gmelin"} xref: KEGG:C03665 xref: PDBeChem:AIB xref: PMID:14234784 {source="Europe PMC"} xref: PMID:2506616 {source="Europe PMC"} xref: PMID:7106860 {source="Europe PMC"} is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H9NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H9NO2/c1-4(2,5)3(6)7/h5H2,1-2H3,(H,6,7)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FUOOLUPWFVMBKG-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "103.11980" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "103.06333" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)(N)C(O)=O" xsd:string [Term] id: CHEBI:27992 name: trans-4-hydroxy-D-proline namespace: chebi_ontology alt_id: CHEBI:10713 alt_id: CHEBI:27059 def: "A 4-hydroxy-D-proline in which the hydroxy group at position 4 has S-configuration." [] subset: 3_STAR synonym: "(2R,4S)-4-hydroxypyrrolidine-2-carboxylic acid" RELATED [ChEBI] synonym: "(4S)-4-hydroxy-D-proline" EXACT IUPAC_NAME [IUPAC] synonym: "4alpha-hydroxy-D-proline" RELATED [ChEBI] synonym: "H-D-Hyp-OH" RELATED [ChEBI] synonym: "trans-4-hydroxy-D-proline" EXACT [KEGG_COMPOUND] xref: CAS:3398-22-9 {source="ChEBI"} xref: KEGG:C03651 is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H9NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H9NO3/c7-3-1-4(5(8)9)6-2-3/h3-4,6-7H,1-2H2,(H,8,9)/t3-,4+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PMMYEEVYMWASQN-IUYQGCFVSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "131.131" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "131.05824" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C@@H]1(C[C@H](O)CN1)C(O)=O" xsd:string [Term] id: CHEBI:27995 name: 3-methylbenzyl alcohol namespace: chebi_ontology alt_id: CHEBI:1593 alt_id: CHEBI:20123 def: "A methylbenzyl alcohol that is toluene in which one of the meta hydrogens has been replaced by a hydroxymethyl group." [] subset: 3_STAR synonym: "(3-methylphenyl)methanol" RELATED [PDBeChem] synonym: "3-methyl-benzenemethanol" RELATED [MetaCyc] synonym: "3-methylbenzyl alcohol" EXACT [UniProt] synonym: "m-methyl benzyl alcohol" RELATED [NIST_Chemistry_WebBook] synonym: "m-tolyl carbinol" RELATED [NIST_Chemistry_WebBook] xref: CAS:587-03-1 {source="KEGG COMPOUND"} xref: CAS:587-03-1 {source="NIST Chemistry WebBook"} xref: CAS:587-03-1 {source="ChemIDplus"} xref: KEGG:C07216 xref: MetaCyc:3-METHYLBENZYL-ALCOHOL xref: PDBeChem:B74 xref: PMID:12791539 {source="Europe PMC"} xref: PMID:20082074 {source="Europe PMC"} xref: PMID:22078029 {source="Europe PMC"} xref: PMID:23071444 {source="Europe PMC"} xref: Reaxys:2324516 {source="Reaxys"} xref: UM-BBD_compID:c0241 {source="UM-BBD"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H10O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H10O/c1-7-3-2-4-8(5-7)6-9/h2-5,9H,6H2,1H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JJCKHVUTVOPLBV-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "122.165" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "122.07316" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C1(=CC(=CC=C1)C)CO" xsd:string [Term] id: CHEBI:27999 name: tolbutamide namespace: chebi_ontology alt_id: CHEBI:27019 alt_id: CHEBI:9616 def: "An N-sulfonylurea that consists of 1-butylurea having a tosyl group attached at the 3-position." [] subset: 3_STAR synonym: "1-Butyl-3-(p-methylphenylsulfonyl)urea" RELATED [ChemIDplus] synonym: "1-Butyl-3-(p-tolylsulfonyl)urea" RELATED [ChemIDplus] synonym: "1-Butyl-3-tosylurea" RELATED [ChemIDplus] synonym: "1-p-Toluenesulfonyl-3-butylurea" RELATED [ChemIDplus] synonym: "3-(p-Tolyl-4-sulfonyl)-1-butylurea" RELATED [ChemIDplus] synonym: "N-(4-Methylbenzenesulfonyl)-N'-butylurea" RELATED [ChemIDplus] synonym: "N-(4-Methylphenylsulfonyl)-N'-butylurea" RELATED [ChemIDplus] synonym: "N-(p-Methylbenzenesulfonyl)-N'-butylurea" RELATED [NIST_Chemistry_WebBook] synonym: "N-(Sulfonyl-p-methylbenzene)-N'-N-butylurea" RELATED [NIST_Chemistry_WebBook] synonym: "N-[(butylamino)carbonyl]-4-methylbenzenesulfonamide" EXACT IUPAC_NAME [IUPAC] synonym: "N-Butyl-N'-(4-methylphenylsulfonyl)urea" RELATED [ChemIDplus] synonym: "N-Butyl-N'-(p-tolylsulfonyl)urea" RELATED [ChemIDplus] synonym: "N-Butyl-N'-p-toluenesulfonylurea" RELATED [ChemIDplus] synonym: "N-n-Butyl-N'-tosylurea" RELATED [ChemIDplus] synonym: "Orinase (TN)" RELATED [KEGG_DRUG] synonym: "tolbutamida" RELATED INN [ChemIDplus] synonym: "Tolbutamide" EXACT [KEGG_COMPOUND] synonym: "tolbutamide" RELATED INN [ChemIDplus] synonym: "tolbutamidum" RELATED INN [ChemIDplus] synonym: "Tolylsulfonylbutylurea" RELATED [NIST_Chemistry_WebBook] xref: CAS:64-77-7 {source="KEGG COMPOUND"} xref: CAS:64-77-7 {source="NIST Chemistry WebBook"} xref: CAS:64-77-7 {source="ChemIDplus"} xref: Drug_Central:2696 {source="DrugCentral"} xref: DrugBank:DB01124 xref: KEGG:C07148 xref: KEGG:D00380 xref: LINCS:LSM-3907 xref: Patent:DE1066575 xref: Patent:GB808071 xref: Patent:US2968158 xref: PMID:11835228 {source="Europe PMC"} xref: PMID:11840346 {source="Europe PMC"} xref: PMID:11911494 {source="Europe PMC"} xref: PMID:12042355 {source="Europe PMC"} xref: PMID:12355256 {source="Europe PMC"} xref: PMID:15207658 {source="Europe PMC"} xref: PMID:15317941 {source="Europe PMC"} xref: PMID:15620874 {source="Europe PMC"} xref: PMID:15655519 {source="Europe PMC"} xref: PMID:16290322 {source="Europe PMC"} xref: PMID:16426753 {source="Europe PMC"} xref: PMID:19059420 {source="Europe PMC"} xref: PMID:20880646 {source="Europe PMC"} xref: PMID:21178111 {source="Europe PMC"} xref: PMID:21193530 {source="Europe PMC"} xref: PMID:21471135 {source="Europe PMC"} xref: PMID:21535124 {source="Europe PMC"} xref: PMID:21712613 {source="Europe PMC"} xref: PMID:21757329 {source="Europe PMC"} xref: PMID:21827497 {source="Europe PMC"} xref: PMID:21831467 {source="Europe PMC"} xref: PMID:22028182 {source="Europe PMC"} xref: PMID:22079696 {source="Europe PMC"} xref: Reaxys:1984428 {source="Reaxys"} xref: Wikipedia:Tolbutamide is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12H18N2O3S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C12H18N2O3S/c1-3-4-9-13-12(15)14-18(16,17)11-7-5-10(2)6-8-11/h5-8H,3-4,9H2,1-2H3,(H2,13,14,15)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JLRGJRBPOGGCBT-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "270.34800" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "270.10381" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCNC(=O)NS(=O)(=O)c1ccc(C)cc1" xsd:string [Term] id: CHEBI:28001 name: vancomycin namespace: chebi_ontology alt_id: CHEBI:27276 alt_id: CHEBI:49941 alt_id: CHEBI:9931 def: "A complex glycopeptide from Streptomyces orientalis. It inhibits a specific step in the synthesis of the peptidoglycan layer in the Gram-positive bacteria Staphylococcus aureus and Clostridium difficile." [] subset: 3_STAR synonym: "(1S,2R,18R,22S,25R,28R,40S)-22-(2-amino-2-oxoethyl)-48-[2-O-(3-amino-2,3,6-trideoxy-3-methyl-alpha-L-lyxo-hexopyranosyl)-beta-D-glucopyranosyloxy]-5,15-dichloro-2,18,32,35,37-pentahydroxy-19-[(N-methyl-D-leucyl)amino]-20,23,26,42,44-pentaoxo-7,13-dioxa-21,24,27,41,43-pentaazaoctacyclo[26.14.2.2(3,6).2(14,17).1(8,12).1(29,33).0(10,25).0(34,39)]pentaconta-3,5,8(48),9,11,14,16,29(45),30,32,34,36,38,46,49-pentadecaene-40-carboxylic acid" RELATED [ChEBI] synonym: "(2.2Sp,3.5Sa,2.6Sp)-O(4.2),C(3.4):C(5.4),O(4.6):C(3.5),C(2.7)-tricyclo[N-methyl-D-leucyl-3-chloro-(R)-beta-hydroxy-D-tyrosyl-L-asparaginyl-D-2-(4-{[2-O-(3-amino-2,3,6-trideoxy-3-C-methyl-alpha-L-lyxo-hexopyranosyl)-beta-D-glucopyranosyl]oxy}phenyl)glycyl-D-2-(4-hydroxyphenyl)glycyl-3-chloro-(R)-beta-hydroxy-L-tyrosyl-L-2-(3,5-dihydroxyphenyl)glycine]" RELATED [JCBN] synonym: "(3S,6R,7R,11R,23S,26S,30aS,36R,38aR)-44-[2-O-(3-amino-2,3,6-trideoxy-3-C-methyl-alpha-L-lyxo-hexopyranosyl)-beta-D-glucopyranosyloxy]-3-(carbamoylmethyl)-10,19-dichloro-2,3,4,5,6,7,23,25,26,36,37,38,38a-tetradecahydro-7,22,28,30,32-pentahydroxy-6-(N-methyl-D-leucyl)-2,5,24,38,39-pentaoxo-1H,22H-23,36-(epiminomethano)-8,11:18,21-dietheno-13,16:31,35-di(metheno)[1,6,9]oxadiazacyclohexadecino[4,5-m][10,2,16]benzoxadiazacyclotetracosine-26-carboxylic acid" EXACT IUPAC_NAME [IUPAC] synonym: "Vancocin" RELATED BRAND_NAME [KEGG_DRUG] synonym: "vancomicin" RELATED [ChEBI] synonym: "vancomicina" RELATED INN [ChemIDplus] synonym: "VANCOMYCIN" EXACT [PDBeChem] synonym: "Vancomycin" EXACT [KEGG_COMPOUND] synonym: "vancomycin" RELATED INN [ChemIDplus] synonym: "vancomycine" RELATED INN [ChemIDplus] synonym: "vancomycinum" RELATED INN [ChemIDplus] xref: Beilstein:3132 {source="Beilstein"} xref: CAS:1404-90-6 {source="ChemIDplus"} xref: CAS:1404-90-6 {source="KEGG COMPOUND"} xref: Drug_Central:2807 {source="DrugCentral"} xref: DrugBank:DB00512 xref: KEGG:C06689 xref: KEGG:D00212 xref: KNApSAcK:C00016052 xref: MeSH:D014640 xref: MetaCyc:CPD-12245 xref: NCIt:C925 xref: Patent:US3067099 xref: PDBeChem:VAN xref: PMID:11028184 {source="Europe PMC"} xref: PMID:11408222 {source="Europe PMC"} xref: PMID:11688538 {source="Europe PMC"} xref: PMID:11864951 {source="Europe PMC"} xref: PMID:11886013 {source="Europe PMC"} xref: PMID:11980329 {source="Europe PMC"} xref: PMID:12019070 {source="Europe PMC"} xref: PMID:12541895 {source="Europe PMC"} xref: PMID:12852813 {source="Europe PMC"} xref: PMID:13370625 {source="Europe PMC"} xref: PMID:13521912 {source="Europe PMC"} xref: PMID:14605050 {source="Europe PMC"} xref: PMID:14702667 {source="Europe PMC"} xref: PMID:15047516 {source="Europe PMC"} xref: PMID:15081082 {source="Europe PMC"} xref: PMID:15465645 {source="Europe PMC"} xref: PMID:15590714 {source="Europe PMC"} xref: PMID:15792257 {source="Europe PMC"} xref: PMID:16183423 {source="Europe PMC"} xref: PMID:16184232 {source="Europe PMC"} xref: PMID:16420976 {source="Europe PMC"} xref: PMID:16596002 {source="Europe PMC"} xref: PMID:16720708 {source="Europe PMC"} xref: PMID:17027219 {source="Europe PMC"} xref: PMID:17184835 {source="Europe PMC"} xref: PMID:17299012 {source="Europe PMC"} xref: PMID:17594206 {source="Europe PMC"} xref: PMID:18030187 {source="Europe PMC"} xref: PMID:18159039 {source="Europe PMC"} xref: PMID:18162343 {source="Europe PMC"} xref: PMID:18260149 {source="Europe PMC"} xref: PMID:18361944 {source="Europe PMC"} xref: PMID:18462092 {source="Europe PMC"} xref: PMID:18582342 {source="Europe PMC"} xref: PMID:18817166 {source="Europe PMC"} xref: PMID:18983037 {source="Europe PMC"} xref: PMID:19107100 {source="Europe PMC"} xref: PMID:19830166 {source="Europe PMC"} xref: PMID:20956604 {source="Europe PMC"} xref: PMID:21109901 {source="Europe PMC"} xref: PMID:21458937 {source="Europe PMC"} xref: PMID:21466775 {source="Europe PMC"} xref: PMID:21664803 {source="Europe PMC"} xref: PMID:21719238 {source="Europe PMC"} xref: PMID:21951032 {source="Europe PMC"} xref: PMID:22011388 {source="Europe PMC"} xref: PMID:22015328 {source="Europe PMC"} xref: PMID:22027450 {source="Europe PMC"} xref: PMID:22124537 {source="Europe PMC"} xref: Reaxys:3132 {source="Reaxys"} xref: SNOMEDCT:372735009 xref: SNOMEDCT:42082003 xref: Wikipedia:Vancomycin is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C66H75Cl2N9O24" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C66H75Cl2N9O24/c1-23(2)12-34(71-5)58(88)76-49-51(83)26-7-10-38(32(67)14-26)97-40-16-28-17-41(55(40)101-65-56(54(86)53(85)42(22-78)99-65)100-44-21-66(4,70)57(87)24(3)96-44)98-39-11-8-27(15-33(39)68)52(84)50-63(93)75-48(64(94)95)31-18-29(79)19-37(81)45(31)30-13-25(6-9-36(30)80)46(60(90)77-50)74-61(91)47(28)73-59(89)35(20-43(69)82)72-62(49)92/h6-11,13-19,23-24,34-35,42,44,46-54,56-57,65,71,78-81,83-87H,12,20-22,70H2,1-5H3,(H2,69,82)(H,72,92)(H,73,89)(H,74,91)(H,75,93)(H,76,88)(H,77,90)(H,94,95)/t24-,34+,35-,42+,44-,46+,47+,48-,49+,50-,51+,52+,53+,54-,56+,57+,65-,66-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "MYPYJXKWCTUITO-LYRMYLQWSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "1449.25336" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "1447.43020" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN[C@H](CC(C)C)C(=O)N[C@@H]1[C@H](O)c2ccc(Oc3cc4cc(Oc5ccc(cc5Cl)[C@@H](O)[C@@H]5NC(=O)[C@H](NC(=O)[C@@H]4NC(=O)[C@H](CC(N)=O)NC1=O)c1ccc(O)c(c1)-c1c(O)cc(O)cc1[C@H](NC5=O)C(O)=O)c3O[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O[C@H]1C[C@](C)(N)[C@H](O)[C@H](C)O1)c(Cl)c2" xsd:string [Term] id: CHEBI:28044 name: phenylalanine namespace: chebi_ontology alt_id: CHEBI:25984 alt_id: CHEBI:8089 def: "An aromatic amino acid that is alanine in which one of the methyl hydrogens is substituted by a phenyl group." [] subset: 3_STAR synonym: "2-amino-3-phenylpropanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "alpha-Amino-beta-phenylpropionic acid" RELATED [KEGG_COMPOUND] synonym: "DL-Phenylalanine" RELATED [KEGG_COMPOUND] synonym: "F" RELATED [ChEBI] synonym: "fenilalanina" RELATED [ChEBI] synonym: "PHE" RELATED [ChEBI] synonym: "Phenylalanin" RELATED [ChEBI] synonym: "Phenylalanine" EXACT [KEGG_COMPOUND] synonym: "phenylalanine" EXACT [ChEBI] synonym: "phenylalanine" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:1910407 {source="Beilstein"} xref: CAS:150-30-1 {source="ChemIDplus"} xref: CAS:150-30-1 {source="NIST Chemistry WebBook"} xref: ChemIDplus:150-30-1 xref: Gmelin:50836 {source="Gmelin"} xref: KEGG COMPOUND:C02057 xref: KEGG:C02057 xref: MeSH:D010649 xref: NCIt:C29601 xref: NIST Chemistry WebBook:150-30-1 xref: PMID:17439666 {source="Europe PMC"} xref: PMID:22264337 {source="Europe PMC"} xref: Reaxys:1910407 {source="Reaxys"} xref: SNOMEDCT:421626005 xref: SNOMEDCT:63004003 xref: Wikipedia:Phenylalanine is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H11NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H11NO2/c10-8(9(11)12)6-7-4-2-1-3-5-7/h1-5,8H,6,10H2,(H,11,12)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "COLNVLDHVKWLRT-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "165.18918" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "165.07898" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NC(Cc1ccccc1)C(O)=O" xsd:string [Term] id: CHEBI:28073 name: chromium atom namespace: chebi_ontology alt_id: CHEBI:23235 alt_id: CHEBI:3678 def: "A chromium group element atom that has atomic number 24." [] subset: 3_STAR synonym: "24Cr" RELATED [IUPAC] synonym: "Chrom" RELATED [ChemIDplus] synonym: "chrome" RELATED [ChEBI] synonym: "Chromium" RELATED [KEGG_COMPOUND] synonym: "chromium" EXACT IUPAC_NAME [IUPAC] synonym: "chromium" RELATED [ChEBI] synonym: "Cr" RELATED [KEGG_COMPOUND] synonym: "Cr" RELATED [IUPAC] synonym: "cromo" RELATED [ChEBI] xref: CAS:7440-47-3 {source="KEGG COMPOUND"} xref: CAS:7440-47-3 {source="ChemIDplus"} xref: KEGG:C06268 xref: MeSH:D002857 xref: NCIt:C370 xref: SNOMEDCT:111070004 xref: WebElements:Cr is_a: CHEBI:33250 ! atom relationship: has_role CHEBI:27027 ! micronutrient property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "Cr" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/Cr" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VYZAMTAEIAYCRO-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "51.99610" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "51.94051" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Cr]" xsd:string [Term] id: CHEBI:28077 name: rifampicin namespace: chebi_ontology alt_id: CHEBI:26577 alt_id: CHEBI:45308 alt_id: CHEBI:8858 def: "A member of the class of rifamycins that is a a semisynthetic antibiotic derived from Amycolatopsis rifamycinica (previously known as Amycolatopsis mediterranei and Streptomyces mediterranei)." [] subset: 3_STAR synonym: "(7S,9E,11S,12R,13S,14R,15R,16R,17S,18S,19E,21Z)-2,15,17,27,29-pentahydroxy-11-methoxy-3,7,12,14,16,18,22-heptamethyl-26-{(E)-[(4-methylpiperazin-1-yl)imino]methyl}-6,23-dioxo-8,30-dioxa-24-azatetracyclo[23.3.1.1(4,7).0(5,28)]triaconta-1(28),1(29),2,4,9,19,21,25,27-nonaen-13-yl acetate" EXACT IUPAC_NAME [IUPAC] synonym: "3-(((4-Methyl-1-piperazinyl)imino)methyl)rifamycin SV" RELATED [ChemIDplus] synonym: "RFP" RELATED [DrugBank] synonym: "rifamcin" RELATED [ChEBI] synonym: "Rifampicin" EXACT [KEGG_COMPOUND] synonym: "rifampicin" RELATED INN [KEGG_DRUG] synonym: "rifampicina" RELATED INN [DrugBank] synonym: "rifampicinum" RELATED INN [DrugBank] synonym: "Rifampin" RELATED [KEGG_COMPOUND] xref: Beilstein:5723476 {source="Beilstein"} xref: CAS:13292-46-1 {source="ChemIDplus"} xref: CAS:13292-46-1 {source="KEGG COMPOUND"} xref: DrugBank:DB01045 xref: HMDB:HMDB0015179 xref: KEGG:C06688 xref: KEGG:D00211 xref: MeSH:D012293 xref: NCIt:C811 xref: Patent:NL6509961 xref: Patent:US3342810 xref: PDBeChem:RFP xref: PMID:11600355 {source="Europe PMC"} xref: PMID:14665784 {source="Europe PMC"} xref: PMID:14670633 {source="Europe PMC"} xref: PMID:15331348 {source="Europe PMC"} xref: PMID:15383168 {source="Europe PMC"} xref: PMID:15705662 {source="Europe PMC"} xref: PMID:16159084 {source="Europe PMC"} xref: PMID:16515773 {source="Europe PMC"} xref: PMID:17828712 {source="Europe PMC"} xref: PMID:18332862 {source="Europe PMC"} xref: PMID:19386087 {source="Europe PMC"} xref: PMID:19458074 {source="Europe PMC"} xref: PMID:19723399 {source="Europe PMC"} xref: PMID:24718527 {source="Europe PMC"} xref: PMID:25720500 {source="Europe PMC"} xref: PMID:26725427 {source="Europe PMC"} xref: PMID:26819743 {source="Europe PMC"} xref: PMID:27082586 {source="Europe PMC"} xref: PMID:27143080 {source="Europe PMC"} xref: PMID:27182275 {source="Europe PMC"} xref: PMID:27242224 {source="Europe PMC"} xref: PMID:27470132 {source="Europe PMC"} xref: PMID:27569735 {source="Europe PMC"} xref: PMID:27617596 {source="Europe PMC"} xref: PMID:27640793 {source="Europe PMC"} xref: PMID:27755552 {source="Europe PMC"} xref: PMID:27795624 {source="Europe PMC"} xref: PMID:27883163 {source="Europe PMC"} xref: PMID:27965540 {source="Europe PMC"} xref: PMID:27993874 {source="Europe PMC"} xref: PMID:28081169 {source="Europe PMC"} xref: PMID:28118809 {source="Europe PMC"} xref: PMID:28181840 {source="Europe PMC"} xref: PMID:28184157 {source="Europe PMC"} xref: PMID:28207542 {source="Europe PMC"} xref: PMID:28262820 {source="Europe PMC"} xref: Reaxys:5723476 {source="Reaxys"} xref: SNOMEDCT:387159009 xref: Wikipedia:Rifampicin is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:33281 ! antimicrobial agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C43H58N4O12" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C43H58N4O12/c1-21-12-11-13-22(2)42(55)45-33-28(20-44-47-17-15-46(9)16-18-47)37(52)30-31(38(33)53)36(51)26(6)40-32(30)41(54)43(8,59-40)57-19-14-29(56-10)23(3)39(58-27(7)48)25(5)35(50)24(4)34(21)49/h11-14,19-21,23-25,29,34-35,39,49-53H,15-18H2,1-10H3,(H,45,55)/b12-11+,19-14+,22-13-,44-20+/t21-,23+,24+,25+,29-,34-,35+,39+,43-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JQXXHWHPUNPDRT-WLSIYKJHSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "822.94020" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "822.40512" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CO[C@H]1\\C=C\\O[C@@]2(C)Oc3c(C)c(O)c4c(O)c(NC(=O)\\C(C)=C/C=C/[C@H](C)[C@H](O)[C@@H](C)[C@@H](O)[C@@H](C)[C@H](OC(C)=O)[C@@H]1C)c(\\C=N\\N1CCN(C)CC1)c(O)c4c3C2=O" xsd:string [Term] id: CHEBI:28088 name: genistein namespace: chebi_ontology alt_id: CHEBI:24204 alt_id: CHEBI:42763 alt_id: CHEBI:5302 def: "A 7-hydroxyisoflavone with additional hydroxy groups at positions 5 and 4'. It is a phytoestrogenic isoflavone with antioxidant properties." [] subset: 3_STAR synonym: "4',5,7-trihydroxyisoflavone" RELATED [ChEBI] synonym: "4',5,7-trihydroxyisoflavone" RELATED [ChemIDplus] synonym: "5,7,4'-Trihydroxyisoflavone" RELATED [KEGG_COMPOUND] synonym: "5,7-dihydroxy-3-(4-hydroxyphenyl)-4H-1-benzopyran-4-one" RELATED [ChEBI] synonym: "5,7-dihydroxy-3-(4-hydroxyphenyl)-4H-chromen-4-one" EXACT IUPAC_NAME [IUPAC] synonym: "GENISTEIN" EXACT [PDBeChem] synonym: "Genistein" EXACT [KEGG_COMPOUND] synonym: "Prunetol" RELATED BRAND_NAME [DrugBank] synonym: "Sophoricol" RELATED BRAND_NAME [DrugBank] xref: Beilstein:263823 {source="Beilstein"} xref: CAS:446-72-0 {source="ChemIDplus"} xref: CAS:446-72-0 {source="KEGG COMPOUND"} xref: Chemspider:4444448 xref: DrugBank:DB01645 xref: FooDB:FDB011828 xref: HMDB:HMDB0003217 xref: KEGG:C06563 xref: KEGG:D11680 xref: KNApSAcK:C00002526 xref: LINCS:LSM-5549 xref: LIPID_MAPS_instance:LMPK12050218 {source="LIPID MAPS"} xref: MeSH:D019833 xref: MetaCyc:CPD-3141 xref: NCIt:C1113 xref: PDBeChem:GEN xref: PMID:10469641 {source="Europe PMC"} xref: PMID:10741415 {source="Europe PMC"} xref: PMID:10912792 {source="Europe PMC"} xref: PMID:11564287 {source="Europe PMC"} xref: PMID:12629420 {source="Europe PMC"} xref: PMID:14654166 {source="Europe PMC"} xref: PMID:15196699 {source="Europe PMC"} xref: PMID:15288519 {source="Europe PMC"} xref: PMID:15576033 {source="Europe PMC"} xref: PMID:15772566 {source="Europe PMC"} xref: PMID:15833883 {source="Europe PMC"} xref: PMID:15853412 {source="Europe PMC"} xref: PMID:16061678 {source="Europe PMC"} xref: PMID:16166295 {source="Europe PMC"} xref: PMID:17004897 {source="Europe PMC"} xref: PMID:17979711 {source="Europe PMC"} xref: PMID:18344977 {source="Europe PMC"} xref: PMID:18413741 {source="Europe PMC"} xref: PMID:18490856 {source="Europe PMC"} xref: PMID:18815740 {source="Europe PMC"} xref: PMID:19107852 {source="Europe PMC"} xref: PMID:19402570 {source="Europe PMC"} xref: PMID:20211733 {source="Europe PMC"} xref: PMID:22303062 {source="Europe PMC"} xref: PMID:24023812 {source="Europe PMC"} xref: PMID:24297371 {source="Europe PMC"} xref: PMID:24379139 {source="Europe PMC"} xref: PMID:25593647 {source="Europe PMC"} xref: PMID:26322379 {source="Europe PMC"} xref: PMID:28166217 {source="Europe PMC"} xref: PMID:28259640 {source="Europe PMC"} xref: PMID:34314575 {source="Europe PMC"} xref: Reaxys:263823 {source="Reaxys"} xref: Wikipedia:Genistein is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C15H10O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C15H10O5/c16-9-3-1-8(2-4-9)11-7-20-13-6-10(17)5-12(18)14(13)15(11)19/h1-7,16-18H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "TZBJGXHYKVUXJN-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "270.240" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "270.05282" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC1=CC=C(C=C1)C1=COC2=C(C(O)=CC(O)=C2)C1=O" xsd:string [Term] id: CHEBI:28119 name: 2,3,7,8-tetrachlorodibenzodioxine namespace: chebi_ontology alt_id: CHEBI:19302 alt_id: CHEBI:869 subset: 3_STAR synonym: "2,3,7,8-Tetrachlorodibenzo-p-dioxin" RELATED [KEGG_COMPOUND] synonym: "2,3,7,8-Tetrachlorodibenzodioxin" RELATED [KEGG_COMPOUND] synonym: "2,3,7,8-tetrachlorooxanthrene" EXACT IUPAC_NAME [IUPAC] synonym: "Dioxin" RELATED [ChemIDplus] synonym: "dioxine" RELATED [ChemIDplus] synonym: "PCDD 48" RELATED [KEGG_COMPOUND] synonym: "TCDD" RELATED [KEGG_COMPOUND] synonym: "Tetrachlorodibenzodioxin" RELATED [KEGG_COMPOUND] synonym: "tetradioxin" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:271116 {source="Beilstein"} xref: CAS:1746-01-6 {source="NIST Chemistry WebBook"} xref: CAS:1746-01-6 {source="ChemIDplus"} xref: CAS:1746-01-6 {source="KEGG COMPOUND"} xref: ChEMBL:143756 xref: ChemIDplus:1746-01-6 xref: Gmelin:366537 {source="Gmelin"} xref: KEGG COMPOUND:1746-01-6 xref: KEGG COMPOUND:C07557 xref: KEGG:C07557 xref: LINCS:LSM-37232 xref: MeSH:D013749 xref: NCIt:C864 xref: NIST Chemistry WebBook:1746-01-6 xref: SNOMEDCT:26775004 xref: Wikipedia:2\,3\,7\,8-Tetrachlorodibenzo-P-Dioxin is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:35703 ! xenobiotic property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12H4Cl4O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C12H4Cl4O2/c13-5-1-9-10(2-6(5)14)18-12-4-8(16)7(15)3-11(12)17-9/h1-4H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HGUFODBRKLSHSI-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "321.96976" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "319.89654" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Clc1cc2Oc3cc(Cl)c(Cl)cc3Oc2cc1Cl" xsd:string [Term] id: CHEBI:28125 name: all-cis-docosa-4,7,10,13,16,19-hexaenoic acid namespace: chebi_ontology alt_id: CHEBI:23857 alt_id: CHEBI:43162 alt_id: CHEBI:4673 def: "A docosahexaenoic acid having six cis-double bonds at positions 4, 7, 10, 13, 16 and 19." [] subset: 3_STAR synonym: "(4Z,7Z,10Z,13Z,16Z,19Z)-docosa-4,7,10,13,16,19-hexaenoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "(4Z,7Z,10Z,13Z,16Z,19Z)-Docosahexaenoic acid" RELATED [KEGG_COMPOUND] synonym: "22:6(n-3)" RELATED [ChEBI] synonym: "22:6-4, 7,10,13,16,19" RELATED [ChEBI] synonym: "4,7,10,13,16,19-Docosahexaenoic acid" RELATED [KEGG_COMPOUND] synonym: "4,7,10,13,16,19-docosahexaenoic acid" RELATED [ChEBI] synonym: "all-cis-4,7,10,13,16,19-docosahexaenoic acid" RELATED [ChEBI] synonym: "all-cis-DHA" RELATED [ChEBI] synonym: "cervonic acid" RELATED [ChEBI] synonym: "DHA" RELATED [ChEBI] synonym: "Doconexent" RELATED [ChemIDplus] synonym: "DOCOSA-4,7,10,13,16,19-HEXAENOIC ACID" RELATED [PDBeChem] synonym: "docosa-4,7,10,13,16,19-hexaenoic acid" RELATED [ChEBI] synonym: "Docosahexaenoic acid" RELATED [KEGG_COMPOUND] xref: Beilstein:1715505 {source="Beilstein"} xref: CAS:6217-54-5 {source="ChemIDplus"} xref: ChEMBL:402932 xref: ChemIDplus:6217-54-5 xref: CiteXplore:12359365 xref: CiteXplore:12538082 xref: CiteXplore:18072818 xref: CiteXplore:18220672 xref: CiteXplore:21045096 xref: Drug_Central:4289 {source="DrugCentral"} xref: DrugBank:DB03756 xref: HMDB:HMDB0002183 xref: KEGG COMPOUND:C06429 xref: KEGG:C06429 xref: LIPID_MAPS_instance:LMFA01030185 {source="LIPID MAPS"} xref: MetaCyc:CPD-10244 xref: NCIt:C68345 xref: NCIt:C68346 xref: PDBeChem:HXA xref: PMID:12359365 {source="Europe PMC"} xref: PMID:12538082 {source="Europe PMC"} xref: PMID:17291553 {source="Europe PMC"} xref: PMID:18072818 {source="Europe PMC"} xref: PMID:18220672 {source="Europe PMC"} xref: PMID:21045096 {source="Europe PMC"} xref: Reaxys:1715505 {source="Reaxys"} xref: SNOMEDCT:226368001 xref: SNOMEDCT:44632005 xref: Wikipedia:Docosahexaenoic_acid is_a: CHEBI:36005 ! docosahexaenoic acid relationship: has_role CHEBI:50733 ! nutraceutical property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H32O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C22H32O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-18-19-20-21-22(23)24/h3-4,6-7,9-10,12-13,15-16,18-19H,2,5,8,11,14,17,20-21H2,1H3,(H,23,24)/b4-3-,7-6-,10-9-,13-12-,16-15-,19-18-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "MBMBGCFOFBJSGT-KUBAVDMBSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "328.489" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "328.24023" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(\\C/C=C\\C/C=C\\C/C=C\\CC)=C\\C/C=C\\C/C=C\\CCC(=O)O" xsd:string [Term] id: CHEBI:2813 name: Arecaidine namespace: chebi_ontology subset: 2_STAR synonym: "Arecaidine" EXACT [KEGG_COMPOUND] xref: CAS:499-04-7 {source="KEGG COMPOUND"} xref: HMDB:HMDB0030352 xref: KEGG:C10128 xref: KNApSAcK:C00002019 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H11NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H11NO2/c1-8-4-2-3-6(5-8)7(9)10/h3H,2,4-5H2,1H3,(H,9,10)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DNJFTXKSFAMXQF-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "141.168" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "141.07898" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN1CCC=C(C1)C(O)=O" xsd:string [Term] id: CHEBI:28135 name: ponasterone A namespace: chebi_ontology alt_id: CHEBI:26210 alt_id: CHEBI:8331 subset: 3_STAR synonym: "(22R)-2beta,3beta,14,20,22-pentahydroxy-5beta-cholest-7-en-6-one" EXACT IUPAC_NAME [IUPAC] synonym: "25-Deoxycedysterone" RELATED [ChemIDplus] synonym: "Ponasterone A" EXACT [KEGG_COMPOUND] xref: Beilstein:2422988 {source="Beilstein"} xref: CAS:13408-56-5 {source="KEGG COMPOUND"} xref: KEGG:C08835 xref: KNApSAcK:C00003667 xref: MeSH:C008999 xref: PDBeChem:P1A is_a: CHEBI:35341 ! steroid relationship: has_role CHEBI:26764 ! steroid hormone property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C27H44O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C27H44O6/c1-15(2)6-7-23(31)26(5,32)22-9-11-27(33)17-12-19(28)18-13-20(29)21(30)14-24(18,3)16(17)8-10-25(22,27)4/h12,15-16,18,20-23,29-33H,6-11,13-14H2,1-5H3/t16-,18-,20+,21-,22-,23+,24+,25+,26+,27+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PJYYBCXMCWDUAZ-JJJZTNILSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "464.63466" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "464.31379" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]12CC[C@]3(C)[C@]([H])(CC[C@@]3(O)C1=CC(=O)[C@]1([H])C[C@@H](O)[C@@H](O)C[C@]21C)[C@@](C)(O)[C@H](O)CCC(C)C" xsd:string [Term] id: CHEBI:28177 name: theophylline namespace: chebi_ontology alt_id: CHEBI:26940 alt_id: CHEBI:45950 alt_id: CHEBI:9523 def: "A dimethylxanthine having the two methyl groups located at positions 1 and 3. It is structurally similar to caffeine and is found in green and black tea." [] subset: 3_STAR synonym: "1,3-dimethyl-3,7-dihydro-1H-purine-2,6-dione" EXACT IUPAC_NAME [IUPAC] synonym: "1,3-dimethyl-7H-purine-2,6-dione" RELATED [IUPHAR] synonym: "1,3-Dimethylxanthine" RELATED [KEGG_COMPOUND] synonym: "Elixophyllin" RELATED BRAND_NAME [KEGG_DRUG] synonym: "Respbid" RELATED BRAND_NAME [ChemIDplus] synonym: "Theo-Dur" RELATED BRAND_NAME [ChemIDplus] synonym: "Theolair" RELATED BRAND_NAME [KEGG_DRUG] synonym: "Theophyllin" RELATED [ChemIDplus] synonym: "THEOPHYLLINE" EXACT [PDBeChem] synonym: "Theophylline" EXACT [KEGG_COMPOUND] synonym: "theophylline" EXACT [UniProt] synonym: "theophylline" EXACT [ChEBI] synonym: "theophylline anhydrous" RELATED [ChemIDplus] synonym: "Uniphyl" RELATED BRAND_NAME [KEGG_DRUG] xref: Beilstein:13463 {source="Beilstein"} xref: CAS:58-55-9 {source="NIST Chemistry WebBook"} xref: CAS:58-55-9 {source="KEGG COMPOUND"} xref: CAS:58-55-9 {source="ChemIDplus"} xref: Drug_Central:2620 {source="DrugCentral"} xref: DrugBank:DB00277 xref: Gmelin:51226 {source="Gmelin"} xref: HMDB:HMDB0001889 xref: KEGG:C07130 xref: KEGG:D00371 xref: KNApSAcK:C00001510 xref: MetaCyc:CPD-12479 xref: PDBeChem:TEP xref: PMID:10796631 {source="Europe PMC"} xref: PMID:10836323 {source="Europe PMC"} xref: PMID:10893702 {source="Europe PMC"} xref: PMID:10921764 {source="Europe PMC"} xref: PMID:11126990 {source="Europe PMC"} xref: PMID:11170036 {source="Europe PMC"} xref: PMID:11200776 {source="Europe PMC"} xref: PMID:11261527 {source="Europe PMC"} xref: PMID:11408152 {source="Europe PMC"} xref: PMID:11826912 {source="Europe PMC"} xref: PMID:11848250 {source="Europe PMC"} xref: PMID:11941393 {source="Europe PMC"} xref: PMID:11949272 {source="Europe PMC"} xref: PMID:11950649 {source="Europe PMC"} xref: PMID:12531775 {source="Europe PMC"} xref: PMID:12836095 {source="Europe PMC"} xref: PMID:14517178 {source="Europe PMC"} xref: PMID:14713563 {source="Europe PMC"} xref: PMID:14988770 {source="Europe PMC"} xref: PMID:15005370 {source="Europe PMC"} xref: PMID:15042504 {source="Europe PMC"} xref: PMID:15202575 {source="Europe PMC"} xref: PMID:15317832 {source="Europe PMC"} xref: PMID:15356646 {source="Europe PMC"} xref: PMID:15483348 {source="Europe PMC"} xref: PMID:15739418 {source="Europe PMC"} xref: PMID:15829161 {source="Europe PMC"} xref: PMID:15902964 {source="Europe PMC"} xref: PMID:15908149 {source="Europe PMC"} xref: PMID:16083514 {source="Europe PMC"} xref: PMID:16651698 {source="Europe PMC"} xref: PMID:16930490 {source="Europe PMC"} xref: PMID:17130682 {source="Europe PMC"} xref: PMID:17207928 {source="Europe PMC"} xref: PMID:18307508 {source="Europe PMC"} xref: PMID:18800032 {source="Europe PMC"} xref: PMID:19559058 {source="Europe PMC"} xref: PMID:19727789 {source="Europe PMC"} xref: PMID:19845735 {source="Europe PMC"} xref: PMID:19888960 {source="Europe PMC"} xref: PMID:21467671 {source="Europe PMC"} xref: PMID:21796703 {source="Europe PMC"} xref: PMID:21834615 {source="Europe PMC"} xref: PMID:22377744 {source="Europe PMC"} xref: PMID:22541679 {source="Europe PMC"} xref: PMID:22541837 {source="Europe PMC"} xref: PMID:22702215 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: PMID:22771369 {source="Europe PMC"} xref: PMID:22836872 {source="Europe PMC"} xref: PMID:22909172 {source="Europe PMC"} xref: PMID:22915350 {source="Europe PMC"} xref: PMID:22981724 {source="Europe PMC"} xref: PMID:7302609 {source="Europe PMC"} xref: PMID:7389811 {source="Europe PMC"} xref: PMID:7656958 {source="Europe PMC"} xref: PMID:7767539 {source="Europe PMC"} xref: PMID:8730732 {source="Europe PMC"} xref: PMID:8960878 {source="Europe PMC"} xref: PMID:9256615 {source="Europe PMC"} xref: Reaxys:13463 {source="Reaxys"} xref: VSDB:1801 xref: Wikipedia:Theophylline is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H8N4O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H8N4O2/c1-10-5-4(8-3-9-5)6(12)11(2)7(10)13/h3H,1-2H3,(H,8,9)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ZFXYFBGIUFBOJW-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "180.16418" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "180.06473" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cn1c2nc[nH]c2c(=O)n(C)c1=O" xsd:string [Term] id: CHEBI:28201 name: rotenone namespace: chebi_ontology alt_id: CHEBI:26583 alt_id: CHEBI:8897 def: "A member of the class of rotenones that consists of 1,2,12,12a-tetrahydrochromeno[3,4-b]furo[2,3-h]chromen-6(6aH)-one substituted at position 2 by a prop-1-en-2-yl group and at positions 8 and 9 by methoxy groups (the 2R,6aS,12aS-isomer). A non-systemic insecticide, it is the principal insecticidal constituent of derris (the dried rhizome and root of Derris elliptica)." [] subset: 3_STAR synonym: "(-)-cis-rotenone" RELATED [ChemIDplus] synonym: "(-)-rotenone" RELATED [ChemIDplus] synonym: "(12aS,6aS,2R)-8,9-dimethoxy-2-(1-methylvinyl)-1,2-dihydrochromano[3,4-b]furano [2,3-h]chroman-6-one" RELATED [ChEBI] synonym: "(2R,6aS,12aS)-8,9-dimethoxy-2-(prop-1-en-2-yl)-1,2,12,12a-tetrahydrochromeno[3,4-b]furo[2,3-h]chromen-6(6aH)-one" EXACT IUPAC_NAME [IUPAC] synonym: "5'beta-rotenone" RELATED [NIST_Chemistry_WebBook] synonym: "[2R-(2alpha,6aalpha,12aalpha)]-1,2,12,12a-tetrahydro-8,9-dimethoxy-2-(1-methylethenyl)[1]benzopyrano[3,4-b]furo[2,3-H][1]benzopyran-6(6aH)-one" RELATED [NIST_Chemistry_WebBook] synonym: "barbasco" RELATED [ChemIDplus] synonym: "canex" RELATED [ChemIDplus] synonym: "dactinol" RELATED [ChemIDplus] synonym: "Derris" RELATED [ChEBI] synonym: "noxfire" RELATED [ChemIDplus] synonym: "paraderil" RELATED [ChemIDplus] synonym: "Rotenone" EXACT [KEGG_COMPOUND] synonym: "tubatoxin" RELATED [ChemIDplus] xref: Beilstein:99070 {source="Beilstein"} xref: BPDB:587 xref: CAS:83-79-4 {source="ChemIDplus"} xref: CAS:83-79-4 {source="NIST Chemistry WebBook"} xref: CAS:83-79-4 {source="KEGG COMPOUND"} xref: DrugBank:DB11457 xref: FooDB:FDB012837 xref: HMDB:HMDB0034436 xref: KEGG:C07593 xref: KNApSAcK:C00002568 xref: LINCS:LSM-5260 xref: LIPID_MAPS_instance:LMPK12060007 {source="LIPID MAPS"} xref: MeSH:D012402 xref: NCIt:C76087 xref: Patent:CN102007944 xref: Patent:CN102090406 xref: PDBeChem:970 xref: PMID:14976342 {source="Europe PMC"} xref: PMID:15043430 {source="Europe PMC"} xref: PMID:15790535 {source="Europe PMC"} xref: PMID:17077549 {source="Europe PMC"} xref: PMID:19013527 {source="Europe PMC"} xref: PMID:32972993 {source="Europe PMC"} xref: PMID:33402167 {source="Europe PMC"} xref: PMID:33901458 {source="Europe PMC"} xref: PMID:33961406 {source="Europe PMC"} xref: Reaxys:99070 {source="Reaxys"} xref: SNOMEDCT:55792003 xref: VSDB:587 xref: Wikipedia:Rotenone is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C23H22O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C23H22O6/c1-11(2)16-8-14-15(28-16)6-5-12-22(24)21-13-7-18(25-3)19(26-4)9-17(13)27-10-20(21)29-23(12)14/h5-7,9,16,20-21H,1,8,10H2,2-4H3/t16-,20-,21+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JUVIOZPCNVVQFO-HBGVWJBISA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "394.423" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "394.14164" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]1(CC2=C3O[C@]4([H])COC5=C(C=C(OC)C(OC)=C5)[C@]4([H])C(=O)C3=CC=C2O1)C(C)=C" xsd:string [Term] id: CHEBI:28216 name: methylmercury chloride namespace: chebi_ontology alt_id: CHEBI:25321 alt_id: CHEBI:6883 subset: 3_STAR synonym: "[HgClMe]" RELATED [ChEBI] synonym: "CH3HgCl" RELATED [NIST_Chemistry_WebBook] synonym: "chloro(methyl)mercury" EXACT IUPAC_NAME [IUPAC] synonym: "chloromethylmercury" RELATED [NIST_Chemistry_WebBook] synonym: "MeHgCl" RELATED [ChEBI] synonym: "mercury methyl chloride" RELATED [NIST_Chemistry_WebBook] synonym: "methylmercuric chloride" RELATED [ChemIDplus] synonym: "Methylmercury chloride" EXACT [KEGG_COMPOUND] synonym: "monomethylmercury chloride" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:3600218 {source="ChemIDplus"} xref: CAS:115-09-3 {source="ChemIDplus"} xref: CAS:115-09-3 {source="NIST Chemistry WebBook"} xref: CAS:115-09-3 {source="KEGG COMPOUND"} xref: Gmelin:1932 {source="Gmelin"} xref: KEGG:C11146 xref: MeSH:C004925 xref: UM-BBD_compID:c0092 {source="UM-BBD"} is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "CH3ClHg" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/CH3.ClH.Hg/h1H3;1H;/q;;+1/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BABMCXWQNSQAOC-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "251.07722" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "251.96297" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[Hg]Cl" xsd:string [Term] id: CHEBI:28240 name: dichloroacetate namespace: chebi_ontology alt_id: CHEBI:23694 def: "A monocarboxylic acid anion that is the conjugate base of dichloroacetic acid." [] subset: 3_STAR synonym: "dichloracetate" RELATED [ChemIDplus] synonym: "dichloroacetate" EXACT IUPAC_NAME [IUPAC] synonym: "dichloroacetate ion" RELATED [ChemIDplus] synonym: "dichloroacetic acid ion(1-)" RELATED [ChemIDplus] xref: Beilstein:3903873 {source="ChemIDplus"} xref: CAS:13425-80-4 {source="ChemIDplus"} xref: Gmelin:200685 {source="Gmelin"} xref: MetaCyc:CPD-9674 xref: PMID:21153705 {source="Europe PMC"} xref: Reaxys:3903873 {source="Reaxys"} xref: UM-BBD_compID:c0012 {source="UM-BBD"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C2HCl2O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C2H2Cl2O2/c3-1(4)2(5)6/h1H,(H,5,6)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JXTHNDFMNIQAHM-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "127.93400" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "126.93591" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-]C(=O)C(Cl)Cl" xsd:string [Term] id: CHEBI:28241 name: papaverine namespace: chebi_ontology alt_id: CHEBI:25852 alt_id: CHEBI:7918 def: "A benzylisoquinoline alkaloid that is isoquinoline substituted by methoxy groups at positions 6 and 7 and a 3,4-dimethoxybenzyl group at position 1. It has been isolated from Papaver somniferum." [] subset: 3_STAR synonym: "1-(3,4-dimethoxybenzyl)-6,7-dimethoxyisoquinoline" EXACT IUPAC_NAME [IUPAC] xref: CAS:58-74-2 {source="KEGG COMPOUND"} xref: CAS:58-74-2 {source="NIST Chemistry WebBook"} xref: CAS:58-74-2 {source="ChemIDplus"} xref: Drug_Central:2056 {source="DrugCentral"} xref: DrugBank:DB01113 xref: HMDB:HMDB0015245 xref: KEGG:C06533 xref: KEGG:D07425 xref: KNApSAcK:C00001899 xref: KNApSAcK:C00027467 xref: LINCS:LSM-2338 xref: MetaCyc:CPD-15742 xref: PDBeChem:EV1 xref: PMID:11971205 {source="Europe PMC"} xref: PMID:24414229 {source="Europe PMC"} xref: Reaxys:312930 {source="Reaxys"} xref: Wikipedia:Papaverine is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H21NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H21NO4/c1-22-17-6-5-13(10-18(17)23-2)9-16-15-12-20(25-4)19(24-3)11-14(15)7-8-21-16/h5-8,10-12H,9H2,1-4H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XQYZDYMELSJDRZ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "339.38500" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "339.14706" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "COc1ccc(Cc2nccc3cc(OC)c(OC)cc23)cc1OC" xsd:string [Term] id: CHEBI:2825 name: aristolochic acid A namespace: chebi_ontology def: "An aristolochic acid that is phenanthrene-1-carboxylic acid that is substituted by a methylenedioxy group at the 3,4 positions, by a methoxy group at position 8, and by a nitro group at position 10. It is the most abundant of the aristolochic acids and is found in almost all Aristolochia (birthworts or pipevines) species. It has been tried in a number of treatments for inflammatory disorders, mainly in Chinese and folk medicine. However, there is concern over their use as aristolochic acid is both carcinogenic and nephrotoxic." [] subset: 3_STAR synonym: "3,4-methylenedioxy-8-methoxy-10-nitro-1-phenanthrenecarboxylic acid" RELATED [ChemIDplus] synonym: "8-methoxy-6-nitro-2H-phenanthro[3,4-d][1,3]dioxole-5-carboxylic acid" EXACT IUPAC_NAME [IUPAC] synonym: "8-methoxy-6-nitrophenanthol (3,4-d) 1,3-dioxole-5-carboxylic acid" RELATED [ChemIDplus] synonym: "8-methoxy-6-nitrophenanthro[3,4-d][1,3]dioxole-5-carboxylic acid" RELATED [IUPAC] synonym: "AAA" RELATED [ChEBI] synonym: "Aristolochic acid" RELATED [KEGG_COMPOUND] synonym: "aristolochic acid A" EXACT [ChemIDplus] synonym: "Aristolochic acid I" RELATED [KEGG_COMPOUND] synonym: "aristolochic acid-I" RELATED [ChemIDplus] synonym: "aristolochin" RELATED [ChemIDplus] xref: CAS:313-67-7 {source="KEGG COMPOUND"} xref: CAS:313-67-7 {source="ChemIDplus"} xref: ChEMBL:250437 xref: ChemIDplus:313-67-7 xref: CiteXplore:21558304 xref: CiteXplore:21719716 xref: CiteXplore:22071594 xref: CiteXplore:22118289 xref: CiteXplore:22126455 xref: CiteXplore:22245565 xref: CiteXplore:22373701 xref: KEGG COMPOUND:313-67-7 xref: KEGG COMPOUND:C08469 xref: KEGG:C08469 xref: KNApSAcK:C00001526 xref: KNApSAcK:C00027516 xref: LINCS:LSM-2373 xref: MeSH:C000228 xref: PMID:21558304 {source="Europe PMC"} xref: PMID:21719716 {source="Europe PMC"} xref: PMID:22071594 {source="Europe PMC"} xref: PMID:22118289 {source="Europe PMC"} xref: PMID:22126455 {source="Europe PMC"} xref: PMID:22245565 {source="Europe PMC"} xref: PMID:22373701 {source="Europe PMC"} xref: Reaxys:345159 {source="Reaxys"} xref: Wikipedia:Aristolochic_acid is_a: CHEBI:24532 ! organic heterocyclic compound is_a: EFO:0004416 ! acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C17H11NO7" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C17H11NO7/c1-23-12-4-2-3-8-9(12)5-11(18(21)22)14-10(17(19)20)6-13-16(15(8)14)25-7-24-13/h2-6H,7H2,1H3,(H,19,20)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BBFQZRXNYIEMAW-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "341.27170" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "341.05355" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "COc1cccc2c1cc([N+]([O-])=O)c1c(cc3OCOc3c21)C(O)=O" xsd:string [Term] id: CHEBI:28260 name: galactose namespace: chebi_ontology alt_id: CHEBI:24162 alt_id: CHEBI:33933 alt_id: CHEBI:5256 def: "An aldohexose that is the C-4 epimer of glucose." [] subset: 3_STAR synonym: "Gal" RELATED [JCBN] synonym: "galacto-hexose" EXACT IUPAC_NAME [IUPAC] synonym: "Galactose" EXACT [KEGG_COMPOUND] synonym: "galactose" EXACT IUPAC_NAME [IUPAC] synonym: "Galaktose" RELATED [ChEBI] xref: CAS:26566-61-0 {source="NIST Chemistry WebBook"} xref: CAS:26566-61-0 {source="ChemIDplus"} xref: KEGG:C01582 xref: Wikipedia:Galactose is_a: CHEBI:16646 ! carbohydrate property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H12O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "180.156" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "180.06339" xsd:string [Term] id: CHEBI:28262 name: dimethyl sulfoxide namespace: chebi_ontology alt_id: CHEBI:23801 alt_id: CHEBI:42138 alt_id: CHEBI:4612 def: "A 2-carbon sulfoxide in which the sulfur atom has two methyl substituents." [] subset: 3_STAR synonym: "(CH3)2SO" RELATED [NIST_Chemistry_WebBook] synonym: "(methanesulfinyl)methane" EXACT IUPAC_NAME [IUPAC] synonym: "DIMETHYL SULFOXIDE" EXACT [PDBeChem] synonym: "Dimethyl sulfoxide" EXACT [KEGG_COMPOUND] synonym: "dimethyl sulfoxide" EXACT [UniProt] synonym: "dimethyl sulfoxide" EXACT IUPAC_NAME [IUPAC] synonym: "dimethyl sulfoxide" RELATED INN [ChemIDplus] synonym: "dimethyl sulfur oxide" RELATED [NIST_Chemistry_WebBook] synonym: "dimethyl sulphoxide" RELATED [ChemIDplus] synonym: "dimethyli sulfoxidum" RELATED INN [ChemIDplus] synonym: "Dimethylsulfoxid" RELATED [ChEBI] synonym: "dimethylsulfoxyde" RELATED INN [ChemIDplus] synonym: "dimetil sulfoxido" RELATED INN [ChemIDplus] synonym: "DMSO" RELATED [KEGG_COMPOUND] synonym: "dmso" RELATED [IUPAC] synonym: "methylsulfinylmethane" RELATED [ChemIDplus] synonym: "S(O)Me2" RELATED [ChEBI] synonym: "sulfinylbis(methane)" RELATED [ChemIDplus] xref: Beilstein:506008 {source="Beilstein"} xref: CAS:67-68-5 {source="NIST Chemistry WebBook"} xref: CAS:67-68-5 {source="KEGG COMPOUND"} xref: CAS:67-68-5 {source="ChemIDplus"} xref: ChEMBL:110009 xref: ChemIDplus:67-68-5 xref: Chemspider:659 xref: CiteXplore:11350866 xref: CiteXplore:15588915 xref: CiteXplore:21426213 xref: CiteXplore:22030943 xref: Drug_Central:906 {source="DrugCentral"} xref: DrugBank:DB01093 xref: FooDB:FDB000764 xref: Gmelin:1556 {source="Gmelin"} xref: HMDB:HMDB0002151 xref: KEGG COMPOUND:67-68-5 xref: KEGG COMPOUND:C11143 xref: KEGG DRUG:D01043 xref: KEGG:C11143 xref: KEGG:D01043 xref: KNApSAcK:C00053120 xref: LINCS:LSM-36361 xref: MeSH:D004121 xref: MetaCyc:DMSO xref: NCIt:C437 xref: NIST Chemistry WebBook:67-68-5 xref: PDBeChem:DMS xref: PMID:10298633 {source="Europe PMC"} xref: PMID:11162043 {source="Europe PMC"} xref: PMID:11350866 {source="Europe PMC"} xref: PMID:11474739 {source="Europe PMC"} xref: PMID:12663039 {source="Europe PMC"} xref: PMID:15237653 {source="Europe PMC"} xref: PMID:15588915 {source="Europe PMC"} xref: PMID:15868171 {source="Europe PMC"} xref: PMID:16434015 {source="Europe PMC"} xref: PMID:16522014 {source="Europe PMC"} xref: PMID:19096138 {source="Europe PMC"} xref: PMID:19382398 {source="Europe PMC"} xref: PMID:19443933 {source="Europe PMC"} xref: PMID:20828537 {source="Europe PMC"} xref: PMID:21426213 {source="Europe PMC"} xref: PMID:22030943 {source="Europe PMC"} xref: PMID:22722716 {source="Europe PMC"} xref: PMID:22768202 {source="Europe PMC"} xref: PMID:22814967 {source="Europe PMC"} xref: PMID:23050031 {source="Europe PMC"} xref: PMID:23313473 {source="Europe PMC"} xref: PMID:28220525 {source="Europe PMC"} xref: PMID:29938311 {source="Europe PMC"} xref: PMID:31489176 {source="Europe PMC"} xref: PMID:3510103 {source="Europe PMC"} xref: PMID:3898376 {source="Europe PMC"} xref: PMID:3916302 {source="Europe PMC"} xref: PMID:4223708 {source="Europe PMC"} xref: PMID:4556944 {source="Europe PMC"} xref: PMID:4963226 {source="Europe PMC"} xref: PMID:6309056 {source="Europe PMC"} xref: PMID:6379027 {source="Europe PMC"} xref: Reaxys:506008 {source="Reaxys"} xref: UM-BBD:c0236 xref: UM-BBD_compID:c0236 {source="UM-BBD"} xref: Wikipedia:Dimethyl_Sulfoxide xref: Wikipedia:Dimethyl_sulfoxide is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C2H6OS" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C2H6OS/c1-4(2)3/h1-2H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IAZDPXIOMUYVGZ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "78.13444" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "78.01394" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CS(C)=O" xsd:string [Term] id: CHEBI:28277 name: brassinolide namespace: chebi_ontology alt_id: CHEBI:22920 alt_id: CHEBI:3169 subset: 3_STAR synonym: "(22R,23R)-2alpha,3alpha,22,23-tetrahydroxy-6,7-seco-5alpha-campestano-6,7-lactone" RELATED [IUPAC] synonym: "(22R,23R)-2alpha,3alpha,22,23-tetrahydroxy-7a-homo-7-oxa-5alpha-campestan-6-one" EXACT IUPAC_NAME [IUPAC] synonym: "Brassinolide" EXACT [KEGG_COMPOUND] synonym: "brassinolide" EXACT [UniProt] xref: Beilstein:3633298 {source="Beilstein"} xref: BPDB:1724 xref: CAS:72962-43-7 {source="KEGG COMPOUND"} xref: CAS:72962-43-7 {source="ChemIDplus"} xref: KEGG:C08814 xref: KNApSAcK:C00000176 xref: LIPID_MAPS_instance:LMST01140001 {source="LIPID MAPS"} is_a: CHEBI:35341 ! steroid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C28H48O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C28H48O6/c1-14(2)15(3)24(31)25(32)16(4)18-7-8-19-17-13-34-26(33)21-11-22(29)23(30)12-28(21,6)20(17)9-10-27(18,19)5/h14-25,29-32H,7-13H2,1-6H3/t15-,16-,17-,18+,19-,20-,21+,22-,23+,24+,25+,27+,28+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IXVMHGVQKLDRKH-KNBKMWSGSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "480.67712" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "480.34509" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]1(CC[C@@]2([H])[C@]3([H])COC(=O)[C@@]4([H])C[C@H](O)[C@H](O)C[C@]4(C)[C@@]3([H])CC[C@]12C)[C@H](C)[C@@H](O)[C@H](O)[C@@H](C)C(C)C" xsd:string [Term] id: CHEBI:28285 name: oligomycin A namespace: chebi_ontology alt_id: CHEBI:25674 alt_id: CHEBI:7750 def: "An oligomycin with formula C45H74011. An inhibitor of mitochondrial F1FO ATP synthase that induces apoptosis in a variety of cell types and exhibits antifungal, antitumour, and nematicidal activities, but its clinical application has been limited by poor solubility in water and other biocompatible solvents." [] subset: 3_STAR synonym: "(1R,4E,5'S,6S,6'S,7R,8S,10R,11R,12S,14R,15S,16R,18E,20E,22R,25S,27R,28S,29R)-22-ethyl-7,11,14,15-tetrahydroxy-6'-[(2R)-2-hydroxypropyl]-5',6,8,10,12,14,16,28,29-nonamethyl-3',4',5',6'-tetrahydro-3H,9H,13H-spiro[2,26-dioxabicyclo[23.3.1]nonacosa-4,18,20-triene-27,2'-pyran]-3,9,13-trione" EXACT IUPAC_NAME [IUPAC] synonym: "Oligomycin A" EXACT [ChemIDplus] synonym: "RP-32705" RELATED [ChemIDplus] xref: CAS:579-13-5 {source="KEGG COMPOUND"} xref: CAS:579-13-5 {source="ChemIDplus"} xref: KEGG:C11311 xref: LINCS:LSM-43230 xref: LINCS:LSM-43272 xref: LINCS:LSM-43347 xref: MetaCyc:CPD-21956 xref: PDBeChem:EFO xref: PMID:22869738 {source="Europe PMC"} xref: PMID:233519 {source="Europe PMC"} xref: PMID:24084683 {source="Europe PMC"} xref: PMID:25849761 {source="Europe PMC"} xref: PMID:28420869 {source="Europe PMC"} xref: PMID:29650704 {source="Europe PMC"} xref: Reaxys:5702132 {source="Reaxys"} is_a: CHEBI:25675 ! oligomycin property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C45H74O11" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C45H74O11/c1-12-34-17-15-13-14-16-27(4)42(51)44(11,53)43(52)32(9)40(50)31(8)39(49)30(7)38(48)26(3)18-21-37(47)54-41-29(6)35(20-19-34)55-45(33(41)10)23-22-25(2)36(56-45)24-28(5)46/h13-15,17-18,21,25-36,38,40-42,46,48,50-51,53H,12,16,19-20,22-24H2,1-11H3/b14-13+,17-15+,21-18+/t25-,26-,27+,28+,29+,30-,31-,32-,33-,34-,35-,36-,38+,40+,41+,42-,44+,45-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "MNULEGDCPYONBU-AWJDAWNUSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "791.076" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "790.52311" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC[C@@H]1CC[C@@H]2O[C@]3(CC[C@H](C)[C@H](C[C@@H](C)O)O3)[C@@H](C)[C@H](OC(=O)\\C=C\\[C@H](C)[C@@H](O)[C@H](C)C(=O)[C@H](C)[C@@H](O)[C@H](C)C(=O)[C@](C)(O)[C@@H](O)[C@H](C)C\\C=C\\C=C\\1)[C@@H]2C" xsd:string [Term] id: CHEBI:28297 name: hydantoin-5-propionic acid namespace: chebi_ontology alt_id: CHEBI:24626 alt_id: CHEBI:24627 alt_id: CHEBI:5774 def: "A imidazolidine-2,4-dione that is hydantoin substituted by a 2-carboxyethyl group at position 4." [] subset: 3_STAR synonym: "3-(2,5-dioxoimidazolidin-4-yl)propanoic acid" EXACT IUPAC_NAME [IUPAC] xref: CAS:5624-26-0 {source="ChemIDplus"} xref: HMDB:HMDB0001212 xref: KEGG:C05565 xref: PMID:13960896 {source="Europe PMC"} xref: PMID:3760095 {source="Europe PMC"} xref: PMID:5835442 {source="Europe PMC"} xref: Reaxys:83925 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound is_a: EFO:0004416 ! acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H8N2O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H8N2O4/c9-4(10)2-1-3-5(11)8-6(12)7-3/h3H,1-2H2,(H,9,10)(H2,7,8,11,12)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VWFWNXQAMGDPGG-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "172.13870" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "172.04841" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)CCC1NC(=O)NC1=O" xsd:string [Term] id: CHEBI:28300 name: glutamine namespace: chebi_ontology alt_id: CHEBI:24316 alt_id: CHEBI:5432 def: "An alpha-amino acid that consists of butyric acid bearing an amino substituent at position 2 and a carbamoyl substituent at position 4." [] subset: 3_STAR synonym: "2,5-diamino-5-oxopentanoic acid" RELATED [IUPAC] synonym: "2-amino-4-carbamoylbutanoic acid" RELATED [JCBN] synonym: "2-Aminoglutaramic acid" RELATED [KEGG_COMPOUND] synonym: "glutamic acid gamma-amide" RELATED [ChEBI] synonym: "Glutamin" RELATED [ChEBI] synonym: "Glutamine" EXACT [KEGG_COMPOUND] synonym: "glutamine" EXACT IUPAC_NAME [IUPAC] synonym: "Glutaminsaeure-5-amid" RELATED [ChEBI] synonym: "Hgln" RELATED [IUPAC] xref: Beilstein:1723795 {source="Beilstein"} xref: CAS:585-21-7 {source="ChemIDplus"} xref: CAS:6899-04-3 {source="KEGG COMPOUND"} xref: CAS:6899-04-3 {source="ChemIDplus"} xref: Gmelin:27318 {source="Gmelin"} xref: KEGG:C00303 xref: KNApSAcK:C00001359 xref: MeSH:D005973 xref: NCIt:C522 xref: Reaxys:1723795 {source="Reaxys"} xref: SNOMEDCT:25761002 xref: SNOMEDCT:412421007 xref: Wikipedia:Glutamine is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H10N2O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H10N2O3/c6-3(5(9)10)1-2-4(7)8/h3H,1-2,6H2,(H2,7,8)(H,9,10)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ZDXPYRJPNDTMRX-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "146.14458" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "146.06914" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NC(CCC(N)=O)C(O)=O" xsd:string [Term] id: CHEBI:28315 name: alloxanthine namespace: chebi_ontology alt_id: CHEBI:22360 alt_id: CHEBI:2603 def: "A pyrazolopyrimidine that is 4,5,6,7-tetrahydro-H-pyrazolo[3,4-d]pyrimidine substituted by oxo groups at positions 4 and 6." [] subset: 3_STAR synonym: "1H-pyrazolo[3,4-d]pyrimidine-4,6(5H,7H)-dione" EXACT IUPAC_NAME [IUPAC] synonym: "Alloxanthine" EXACT [KEGG_COMPOUND] synonym: "Oxipurinol" RELATED [KEGG_COMPOUND] synonym: "Oxoallopurinol" RELATED [ChemIDplus] synonym: "Oxypurinol" RELATED [KEGG_COMPOUND] xref: Beilstein:139956 {source="Beilstein"} xref: BPDB:2154 xref: CAS:2465-59-0 {source="ChemIDplus"} xref: CAS:2465-59-0 {source="KEGG COMPOUND"} xref: HMDB:HMDB0000786 xref: KEGG:C07599 xref: KEGG:D02365 xref: PMID:18484017 {source="Europe PMC"} xref: PMID:23751350 {source="Europe PMC"} xref: PMID:24184830 {source="Europe PMC"} xref: PMID:24591375 {source="Europe PMC"} xref: Reaxys:139956 {source="Reaxys"} xref: Wikipedia:Oxypurinol is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H4N4O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H4N4O2/c10-4-2-1-6-9-3(2)7-5(11)8-4/h1H,(H3,6,7,8,9,10,11)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HXNFUBHNUDHIGC-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "152.11090" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "152.03343" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O=c1[nH]c2[nH]ncc2c(=O)[nH]1" xsd:string [Term] id: CHEBI:28340 name: L-2-aminobutyrate namespace: chebi_ontology alt_id: CHEBI:18733 subset: 3_STAR synonym: "(2S)-2-aminobutanoate" EXACT IUPAC_NAME [IUPAC] synonym: "(S)-2-Aminobutanoate" RELATED [KEGG_COMPOUND] xref: Beilstein:4958536 {source="Beilstein"} xref: Gmelin:958982 {source="Gmelin"} xref: KEGG:C02356 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H8NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H9NO2/c1-2-3(5)4(6)7/h3H,2,5H2,1H3,(H,6,7)/p-1/t3-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QWCKQJZIFLGMSD-VKHMYHEASA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "102.11186" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "102.05605" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC[C@H](N)C([O-])=O" xsd:string [Term] id: CHEBI:28364 name: all-cis-5,8,11,14,17-icosapentaenoic acid namespace: chebi_ontology alt_id: CHEBI:23901 alt_id: CHEBI:42328 alt_id: CHEBI:4764 def: "An icosapentaenoic acid having five cis-double bonds at positions 5, 8, 11, 14 and 17." [] subset: 3_STAR synonym: "(5Z,8Z,11Z,14Z,17Z)-5,8,11,14,17-eicosapentaenoic acid" RELATED [ChemIDplus] synonym: "(5Z,8Z,11Z,14Z,17Z)-Eicosapentaenoate" RELATED [KEGG_COMPOUND] synonym: "(5Z,8Z,11Z,14Z,17Z)-Eicosapentaenoic acid" RELATED [KEGG_COMPOUND] synonym: "(5Z,8Z,11Z,14Z,17Z)-icosa-5,8,11,14,17-pentaenoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "(5Z,8Z,11Z,14Z,17Z)-Icosapentaenoic acid" RELATED [KEGG_COMPOUND] synonym: "(all-Z)-5,8,11,14,17-eicosapentaenoic acid" RELATED [ChemIDplus] synonym: "5,8,11,14,17-EICOSAPENTAENOIC ACID" RELATED [PDBeChem] synonym: "5,8,11,14,17-Icosapentaenoic acid" RELATED [KEGG_COMPOUND] synonym: "all-cis-5,8,11,14,17-eicosapentaenoic acid" RELATED [ChEBI] synonym: "all-cis-icosa-5,8,11,14,17-pentaenoic acid" RELATED [ChEBI] synonym: "cis, cis, cis, cis, cis-eicosa-5,8,11,14,17-pentaenoic acid" RELATED [ChEBI] synonym: "cis-5,8,11,14,17-eicosapentaenoic acid" RELATED [ChemIDplus] synonym: "cis-5,8,11,14,17-EPA" RELATED [ChEBI] synonym: "cis-Delta(5,8,11,14,17)-eicosapentaenoic acid" RELATED [ChEBI] synonym: "Eicosapentaenoic acid" RELATED [KEGG_COMPOUND] synonym: "EPA" RELATED [DrugBank] synonym: "icosapent" RELATED INN [ChemIDplus] synonym: "Icosapentaenoic acid" RELATED [HMDB] synonym: "icosapento" RELATED INN [ChemIDplus] synonym: "icosapentum" RELATED INN [ChemIDplus] synonym: "Timnodonic acid" RELATED [DrugBank] xref: Beilstein:1714433 {source="Beilstein"} xref: CAS:10417-94-4 {source="ChemIDplus"} xref: CAS:10417-94-4 {source="KEGG COMPOUND"} xref: Drug_Central:3174 {source="DrugCentral"} xref: DrugBank:DB00159 xref: HMDB:HMDB0001999 xref: KEGG:C06428 xref: KEGG:D08061 xref: KNApSAcK:C00000408 xref: KNApSAcK:C00001215 xref: LIPID_MAPS_instance:LMFA01030759 {source="LIPID MAPS"} xref: MetaCyc:EICOSAPENTAENOATE xref: PDBeChem:EPA xref: PMID:12549599 {source="Europe PMC"} xref: PMID:18638380 {source="Europe PMC"} xref: PMID:19054597 {source="Europe PMC"} xref: PMID:21118482 {source="Europe PMC"} xref: PMID:21274596 {source="Europe PMC"} xref: PMID:23920312 {source="Europe PMC"} xref: PMID:24108131 {source="Europe PMC"} xref: PMID:24238887 {source="Europe PMC"} xref: PMID:24387137 {source="Europe PMC"} xref: PMID:24389665 {source="Europe PMC"} xref: PMID:9668087 {source="Europe PMC"} xref: Reaxys:1714433 {source="Reaxys"} is_a: CHEBI:36006 ! icosapentaenoic acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H30O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H30O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-18-19-20(21)22/h3-4,6-7,9-10,12-13,15-16H,2,5,8,11,14,17-19H2,1H3,(H,21,22)/b4-3-,7-6-,10-9-,13-12-,16-15-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JAZBEHYOTPTENJ-JLNKQSITSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "302.45100" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "302.22458" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC\\C=C/C\\C=C/C\\C=C/C\\C=C/C\\C=C/CCCC(O)=O" xsd:string [Term] id: CHEBI:28368 name: novobiocin namespace: chebi_ontology alt_id: CHEBI:25597 alt_id: CHEBI:44505 alt_id: CHEBI:7644 def: "A coumarin-derived antibiotic obtained from Streptomyces niveus." [] subset: 3_STAR synonym: "N-{7-[(3-O-carbamoyl-6-deoxy-5-methyl-4-O-methyl-beta-D-gulopyranosyl)oxy]-4-hydroxy-8-methyl-2-oxo-2H-chromen-3-yl}-4-hydroxy-3-(3-methylbut-2-en-1-yl)benzamide" RELATED [ChEBI] synonym: "Novobiocin" EXACT [KEGG_COMPOUND] synonym: "novobiocina" RELATED INN [DrugBank] synonym: "novobiocine" RELATED INN [DrugBank] synonym: "novobiocinum" RELATED INN [DrugBank] xref: CAS:303-81-1 {source="ChemIDplus"} xref: CAS:303-81-1 {source="KEGG COMPOUND"} xref: Drug_Central:1974 {source="DrugCentral"} xref: DrugBank:DB01051 xref: HMDB:HMDB0015185 xref: KEGG:C05080 xref: KNApSAcK:C00002487 xref: LINCS:LSM-5910 xref: MeSH:D009675 xref: NCIt:C705 xref: Patent:WO2012049521 xref: Patent:WO2012103487 xref: PDBeChem:NOV xref: PMID:17132020 {source="Europe PMC"} xref: PMID:18418407 {source="Europe PMC"} xref: PMID:19282394 {source="Europe PMC"} xref: PMID:19762445 {source="Europe PMC"} xref: PMID:20325309 {source="Europe PMC"} xref: PMID:21388139 {source="Europe PMC"} xref: PMID:22897434 {source="Europe PMC"} xref: PMID:26844397 {source="Europe PMC"} xref: PMID:26926630 {source="Europe PMC"} xref: PMID:27829510 {source="Europe PMC"} xref: PMID:27914946 {source="Europe PMC"} xref: PMID:28246042 {source="Europe PMC"} xref: PMID:28316592 {source="Europe PMC"} xref: PMID:9687383 {source="Europe PMC"} xref: Reaxys:1445842 {source="Reaxys"} xref: SNOMEDCT:90220005 is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:33853 ! phenols relationship: has_role CHEBI:33281 ! antimicrobial agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C31H36N2O11" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C31H36N2O11/c1-14(2)7-8-16-13-17(9-11-19(16)34)27(37)33-21-22(35)18-10-12-20(15(3)24(18)42-28(21)38)41-29-23(36)25(43-30(32)39)26(40-6)31(4,5)44-29/h7,9-13,23,25-26,29,34-36H,8H2,1-6H3,(H2,32,39)(H,33,37)/t23-,25+,26-,29-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YJQPYGGHQPGBLI-KGSXXDOSSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "612.62430" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "612.23191" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CO[C@@H]1[C@@H](OC(N)=O)[C@@H](O)[C@H](Oc2ccc3c(O)c(NC(=O)c4ccc(O)c(CC=C(C)C)c4)c(=O)oc3c2C)OC1(C)C" xsd:string [Term] id: CHEBI:28445 name: vincristine namespace: chebi_ontology alt_id: CHEBI:27289 alt_id: CHEBI:9987 def: "A vinca alkaloid with formula C46H56N4O10 found in the Madagascar periwinkle, Catharanthus roseus. It is used (commonly as the corresponding sulfate salt)as a chemotherapy drug for the treatment of leukaemia, lymphoma, myeloma, breast cancer and head and neck cancer." [] subset: 3_STAR synonym: "(+)-Vincristine" RELATED [DrugCentral] synonym: "22-oxo-vincaleukoblastine" RELATED [DrugCentral] synonym: "22-Oxovincaleukoblastine" RELATED [KEGG_COMPOUND] synonym: "22-oxovincaleukoblastine" EXACT IUPAC_NAME [IUPAC] synonym: "leucristine" RELATED [DrugCentral] synonym: "leurocristine" RELATED [ChemIDplus] synonym: "oncovin" RELATED [DrugCentral] synonym: "vincristin" RELATED [DrugCentral] synonym: "Vincristine" EXACT [KEGG_COMPOUND] synonym: "vinkristin" RELATED [DrugCentral] xref: Beilstein:4779289 {source="Beilstein"} xref: CAS:57-22-7 {source="ChemIDplus"} xref: CAS:57-22-7 {source="KEGG COMPOUND"} xref: Drug_Central:2825 {source="DrugCentral"} xref: DrugBank:DB00541 xref: HMDB:HMDB0014681 xref: KEGG:C07204 xref: KEGG:D08679 xref: KNApSAcK:C00001783 xref: MeSH:D014750 xref: MetaCyc:CPD-19894 xref: NCIt:C933 xref: PMID:18520608 {source="Europe PMC"} xref: PMID:30277559 {source="Europe PMC"} xref: PMID:30429697 {source="Europe PMC"} xref: PMID:30599272 {source="Europe PMC"} xref: PMID:30604513 {source="Europe PMC"} xref: PMID:30657998 {source="Europe PMC"} xref: PMID:31048222 {source="Europe PMC"} xref: PMID:31161774 {source="Europe PMC"} xref: PMID:31214762 {source="Europe PMC"} xref: PMID:31296986 {source="Europe PMC"} xref: SNOMEDCT:23079006 xref: SNOMEDCT:387126006 xref: Wikipedia:Vincristine is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:35610 ! antineoplastic agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C46H56N4O10" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C46H56N4O10/c1-7-42(55)22-28-23-45(40(53)58-5,36-30(14-18-48(24-28)25-42)29-12-9-10-13-33(29)47-36)32-20-31-34(21-35(32)57-4)50(26-51)38-44(31)16-19-49-17-11-15-43(8-2,37(44)49)39(60-27(3)52)46(38,56)41(54)59-6/h9-13,15,20-21,26,28,37-39,47,55-56H,7-8,14,16-19,22-25H2,1-6H3/t28-,37+,38-,39-,42+,43-,44-,45+,46+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OGWKCGZFUXNPDA-XQKSVPLYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "824.95780" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "824.39964" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12N3CC[C@@]11c4cc(c(OC)cc4N(C=O)[C@@]1([H])[C@](O)([C@H](OC(C)=O)[C@]2(CC)C=CC3)C(=O)OC)[C@]1(C[C@@H]2C[N@](CCc3c1[nH]c1ccccc31)C[C@](O)(CC)C2)C(=O)OC" xsd:string [Term] id: CHEBI:28462 name: ajmaline namespace: chebi_ontology alt_id: CHEBI:22275 alt_id: CHEBI:2525 alt_id: CHEBI:40717 def: "A monoterpenoid indole alkaloid that consists of ajmalan substituted at positions 17 and 21 by hydroxy groups." [] subset: 3_STAR synonym: "(+)-Ajmaline" RELATED [ChemIDplus] synonym: "(5aR,6S,8S,10S,11S,11aS,12aR,13R)-5-methyl-5a,6,8,9,10,11,11a,12-octahydro-5H-6,10:11,12a-dimethanoindolo[3,2-b]quinolizine-8,13-diol" RELATED [PDBeChem] synonym: "ajmalan-17alpha,21alpha-diol" EXACT IUPAC_NAME [IUPAC] synonym: "Ajmaline" EXACT [KEGG_COMPOUND] xref: CAS:4360-12-7 {source="KEGG COMPOUND"} xref: CAS:4360-12-7 {source="ChemIDplus"} xref: DrugBank:DB01426 xref: KEGG:C06542 xref: KEGG:D00199 xref: KNApSAcK:C00001679 xref: KNApSAcK:C00024294 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H26N2O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H26N2O2/c1-3-10-11-8-14-17-20(12-6-4-5-7-13(12)21(17)2)9-15(16(11)18(20)23)22(14)19(10)24/h4-7,10-11,14-19,23-24H,3,8-9H2,1-2H3/t10-,11-,14-,15-,16?,17-,18+,19+,20+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CJDRUOGAGYHKKD-HEFSZTOGSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "326.43272" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "326.19943" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12C[C@H]3[C@H](CC)[C@@H](O)N1[C@H]1C[C@@]4([C@H](O)C31)c1ccccc1N(C)[C@@]24[H]" xsd:string [Term] id: CHEBI:28534 name: 1,2-dibromoethane namespace: chebi_ontology alt_id: CHEBI:18880 alt_id: CHEBI:496 def: "A bromoalkane that is ethane carrying bromo substituents at positions 1 and 2. It is produced by marine algae." [] subset: 3_STAR synonym: "1,2-Dibromoethane" EXACT [KEGG_COMPOUND] synonym: "1,2-dibromoethane" EXACT [UniProt] synonym: "1,2-dibromoethane" EXACT IUPAC_NAME [IUPAC] synonym: "alpha,beta-dibromoethane" RELATED [NIST_Chemistry_WebBook] synonym: "alpha,omega-dibromoethane" RELATED [ChemIDplus] synonym: "DBE" RELATED [NIST_Chemistry_WebBook] synonym: "EDB" RELATED [NIST_Chemistry_WebBook] synonym: "ethylene bromide" RELATED [NIST_Chemistry_WebBook] synonym: "Ethylene dibromide" RELATED [KEGG_COMPOUND] synonym: "sym-Dibromoethane" RELATED [ChemIDplus] xref: Beilstein:605266 {source="Beilstein"} xref: CAS:106-93-4 {source="NIST Chemistry WebBook"} xref: CAS:106-93-4 {source="ChemIDplus"} xref: CAS:106-93-4 {source="KEGG COMPOUND"} xref: Gmelin:1913 {source="Gmelin"} xref: HMDB:HMDB0060334 xref: KEGG:C11088 xref: MetaCyc:12-DIBROMOETHANE xref: PMID:10088182 {source="Europe PMC"} xref: PMID:11312844 {source="Europe PMC"} xref: PPDB:1484 xref: Reaxys:605266 {source="Reaxys"} xref: Wikipedia:1\,2-Dibromoethane is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C2H4Br2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C2H4Br2/c3-1-2-4/h1-2H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PAAZPARNPHGIKF-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "187.86116" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "185.86798" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "BrCCBr" xsd:string [Term] id: CHEBI:28568 name: piperazine namespace: chebi_ontology alt_id: CHEBI:26143 alt_id: CHEBI:8235 def: "An azacycloalkane that consists of a six-membered ring containing two nitrogen atoms at opposite positions." [] subset: 3_STAR synonym: "1,4-diazacyclohexane" RELATED [ChemIDplus] synonym: "1,4-diethylenediamine" RELATED [ChemIDplus] synonym: "1,4-piperazine" RELATED [ChemIDplus] synonym: "Diethylenediamine" RELATED [KEGG_COMPOUND] synonym: "hexahydro-1,4-diazine" RELATED [ChemIDplus] synonym: "Piperazin" RELATED [ChemIDplus] synonym: "Piperazine" EXACT [KEGG_COMPOUND] synonym: "piperazine" EXACT IUPAC_NAME [IUPAC] synonym: "Vermizine (TN)" RELATED [KEGG_DRUG] xref: Beilstein:102555 {source="Beilstein"} xref: CAS:110-85-0 {source="ChemIDplus"} xref: CAS:110-85-0 {source="NIST Chemistry WebBook"} xref: CAS:110-85-0 {source="KEGG COMPOUND"} xref: CAS:142-88-1 {source="KEGG COMPOUND"} xref: ChemIDplus:110-85-0 xref: Chemspider:13835459 xref: Drug_Central:2188 {source="DrugCentral"} xref: DrugBank:DB00592 xref: FooDB:FDB012189 xref: Gmelin:25695 {source="Gmelin"} xref: HMDB:HMDB0014730 xref: KEGG COMPOUND:110-85-0 xref: KEGG COMPOUND:C07973 xref: KEGG DRUG:D00807 xref: KEGG:C07973 xref: KEGG:D00807 xref: KEGG:D02145 xref: MeSH:C034930 xref: MetaCyc:PIPERAZINE xref: NCIt:C61892 xref: NIST Chemistry WebBook:110-85-0 xref: PDBeChem:PZE xref: Pesticides:piperazine {source="Alan Wood's Pesticides"} xref: PMID:15017096 {source="Europe PMC"} xref: PMID:16987490 {source="Europe PMC"} xref: PMID:24201896 {source="Europe PMC"} xref: PMID:28842264 {source="Europe PMC"} xref: PMID:29438107 {source="Europe PMC"} xref: PMID:32912125 {source="Europe PMC"} xref: PMID:33336346 {source="Europe PMC"} xref: PMID:33751807 {source="Europe PMC"} xref: PMID:9265850 {source="Europe PMC"} xref: Reaxys:102555 {source="Reaxys"} xref: SNOMEDCT:324963001 xref: SNOMEDCT:373220002 xref: VSDB:1781 xref: Wikipedia:Piperazine is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H10N2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H10N2/c1-2-6-4-3-5-1/h5-6H,1-4H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GLUUGHFHXGJENI-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "86.138" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "86.08440" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C1CNCCN1" xsd:string [Term] id: CHEBI:28593 name: quinidine namespace: chebi_ontology alt_id: CHEBI:127150 alt_id: CHEBI:26494 alt_id: CHEBI:355477 alt_id: CHEBI:529982 alt_id: CHEBI:595841 alt_id: CHEBI:597286 alt_id: CHEBI:604323 alt_id: CHEBI:8719 def: "A cinchona alkaloid consisting of cinchonine with the hydrogen at the 6-position of the quinoline ring substituted by methoxy." [] subset: 3_STAR synonym: "(+)-Quinidine" RELATED [KEGG_COMPOUND] synonym: "(+)-quinidine" RELATED [ChemIDplus] synonym: "(8R,9S)-quinidine" RELATED [ChemIDplus] synonym: "(9S)-6'-methoxycinchonan-9-ol" EXACT IUPAC_NAME [IUPAC] synonym: "(R)-(6-methoxyquinolin-4-yl)((3S,4R,7S)-3-vinylquinuclidin-7-yl)methanol" RELATED [ChEMBL] synonym: "(S)-(6-Methoxy-quinolin-4-yl)-((2R,5R)-5-vinyl-1-aza-bicyclo[2.2.2]oct-2-yl)-methanol" RELATED [ChEMBL] synonym: "(S)-(6-methoxyquinolin-4-yl)((2R,5R)-5-vinylquinuclidin-2-yl)methanol" RELATED [ChEMBL] synonym: "6-methoxy-alpha-(5-vinyl-2-quinuclidinyl)-4-quinolinemethanol" RELATED [NIST_Chemistry_WebBook] synonym: "alpha-(6-methoxy-4-quinolyl)-5-vinyl-2-quinuclidinemethanol" RELATED [NIST_Chemistry_WebBook] synonym: "beta-quinine" RELATED [NIST_Chemistry_WebBook] synonym: "Chinidin" RELATED [ChemIDplus] synonym: "chinidinum" RELATED [ChEBI] synonym: "CIN-QUIN" RELATED [ChEMBL] synonym: "Conchinin" RELATED [ChemIDplus] synonym: "conquinine" RELATED [ChemIDplus] synonym: "Kinidin" RELATED BRAND_NAME [KEGG_DRUG] synonym: "pitayine" RELATED [ChemIDplus] synonym: "quinidina" RELATED [ChEBI] synonym: "Quinidine" EXACT [KEGG_COMPOUND] synonym: "quinidine" EXACT [ChEMBL] xref: Beilstein:91866 {source="Beilstein"} xref: CAS:56-54-2 {source="KEGG COMPOUND"} xref: CAS:56-54-2 {source="NIST Chemistry WebBook"} xref: CAS:56-54-2 {source="ChemIDplus"} xref: Drug_Central:2346 {source="DrugCentral"} xref: DrugBank:DB00908 xref: KEGG:C06527 xref: KEGG:D08458 xref: LINCS:LSM-3325 xref: PMID:12477351 {source="ChEMBL"} xref: PMID:12699389 {source="ChEMBL"} xref: PMID:14971904 {source="ChEMBL"} xref: PMID:14973303 {source="Europe PMC"} xref: PMID:15089813 {source="Europe PMC"} xref: PMID:15225721 {source="ChEMBL"} xref: PMID:15270556 {source="ChEMBL"} xref: PMID:15328252 {source="Europe PMC"} xref: PMID:16570918 {source="ChEMBL"} xref: PMID:17132069 {source="ChEMBL"} xref: PMID:17228875 {source="ChEMBL"} xref: PMID:17249648 {source="Europe PMC"} xref: PMID:17870541 {source="ChEMBL"} xref: PMID:18324762 {source="ChEMBL"} xref: PMID:18395298 {source="ChEMBL"} xref: PMID:18788725 {source="ChEMBL"} xref: PMID:23861085 {source="Europe PMC"} xref: PMID:24130427 {source="Europe PMC"} xref: PMID:445303 {source="Europe PMC"} xref: PMID:8337232 {source="Europe PMC"} xref: PMID:9864343 {source="Europe PMC"} xref: Reaxys:91866 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H24N2O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H24N2O2/c1-3-13-12-22-9-7-14(13)10-19(22)20(23)16-6-8-21-18-5-4-15(24-2)11-17(16)18/h3-6,8,11,13-14,19-20,23H,1,7,9-10,12H2,2H3/t13-,14-,19+,20-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LOUPRKONTZGTKE-LHHVKLHASA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "324.41680" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "324.18378" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]1(C[C@@H]2CC[N@]1C[C@@H]2C=C)[C@@H](O)c1ccnc2ccc(OC)cc12" xsd:string [Term] id: CHEBI:28610 name: 1-O-oleoyl-sn-glycero-3-phosphocholine namespace: chebi_ontology alt_id: CHEBI:19077 alt_id: CHEBI:661 alt_id: CHEBI:74342 def: "An oleoyl-sn-glycero-3-phosphocholine in which the acyl group at position 1 is (9Z)-octadecenoyl (oleoyl) and the hydroxy group at position 2 is unsubstituted." [] subset: 3_STAR synonym: "(2R)-2-hydroxy-3-[(9Z)-octadec-9-enoyloxy]propyl 2-(trimethylammonio)ethyl phosphate" EXACT IUPAC_NAME [IUPAC] synonym: "1-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine" RELATED [LIPID_MAPS] synonym: "1-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine" RELATED [UniProt] synonym: "1-O-oleoyl-sn-glycero-3-phosphocholine" EXACT [LIPID_MAPS] synonym: "1-oleoyl-2-hydroxy-sn-glycero-3-phosphocholine" RELATED [ChEBI] synonym: "1-Oleoyl-sn-glycero-3-phosphorylcholine" RELATED [LIPID_MAPS] synonym: "1-Oleoylglycerophosphocholine" RELATED [KEGG_COMPOUND] synonym: "3-Oleoyl-rac-glycerol-1-phosphorylcholine" RELATED [HMDB] synonym: "LPC 18:1" RELATED [ChEBI] synonym: "LPC 18:1(9Z)/0:0" RELATED [ChEBI] synonym: "LPC(18:1(9Z)/0:0)" RELATED [ChEBI] synonym: "LysoPC 18:1(9Z)/0:0" RELATED [ChEBI] synonym: "LysoPC(18:1(9Z)/0:0)" RELATED [ChEBI] synonym: "lysophosphatidylcholine 18:1" RELATED [ChEBI] synonym: "lysophosphatidylcholine(18:1(9Z)/0:0)" RELATED [ChEBI] synonym: "PC 18:1(9Z)/0:0" RELATED [ChEBI] synonym: "PC(18:1(9Z)/0:0)" RELATED [ChEBI] xref: CAS:3542-29-8 {source="ChemIDplus"} xref: HMDB:HMDB0002815 xref: KEGG:C03916 xref: LIPID_MAPS_instance:LMGP01050032 {source="LIPID MAPS"} xref: PMID:25584012 {source="Europe PMC"} xref: PMID:25642819 {source="Europe PMC"} xref: Reaxys:5780599 {source="Reaxys"} is_a: CHEBI:64566 ! lysophosphatidylcholine 18:1 property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C26H52NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C26H52NO7P/c1-5-6-7-8-9-10-11-12-13-14-15-16-17-18-19-20-26(29)32-23-25(28)24-34-35(30,31)33-22-21-27(2,3)4/h12-13,25,28H,5-11,14-24H2,1-4H3/b13-12-/t25-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YAMUFBLWGFFICM-PTGWMXDISA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "521.668" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "521.34814" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O(C[C@H](O)COC(CCCCCCC/C=C\\CCCCCCCC)=O)P(OCC[N+](C)(C)C)(=O)[O-]" xsd:string [Term] id: CHEBI:28618 name: 1,4-dichlorobenzene namespace: chebi_ontology alt_id: CHEBI:18930 alt_id: CHEBI:536 def: "A dichlorobenzene carrying chloro groups at positions 1 and 4." [] subset: 3_STAR synonym: "1,4-Dichlorobenzene" EXACT [KEGG_COMPOUND] synonym: "1,4-dichlorobenzene" EXACT IUPAC_NAME [IUPAC] synonym: "p-chlorophenyl chloride" RELATED [NIST_Chemistry_WebBook] synonym: "p-Dichlorbenzol" RELATED [ChemIDplus] synonym: "p-Dichlorobenzene" RELATED [KEGG_COMPOUND] synonym: "PARA" RELATED [UM-BBD] synonym: "Paradichlorbenzol" RELATED [NIST_Chemistry_WebBook] synonym: "paradichlorobenzene" RELATED [ChemIDplus] synonym: "PDCB" RELATED [UM-BBD] xref: Beilstein:1680023 {source="Beilstein"} xref: CAS:106-46-7 {source="KEGG COMPOUND"} xref: CAS:106-46-7 {source="NIST Chemistry WebBook"} xref: CAS:106-46-7 {source="ChemIDplus"} xref: Gmelin:49722 {source="Gmelin"} xref: HMDB:HMDB0041971 xref: KEGG:C07092 xref: Patent:WO2010122925 xref: PMID:10817668 {source="Europe PMC"} xref: PMID:17750169 {source="Europe PMC"} xref: PMID:23899931 {source="Europe PMC"} xref: Reaxys:1680023 {source="Reaxys"} xref: UM-BBD_compID:c0593 {source="UM-BBD"} xref: Wikipedia:1\,4-Dichlorobenzene is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H4Cl2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H4Cl2/c7-5-1-2-6(8)4-3-5/h1-4H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OCJBOOLMMGQPQU-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "147.00136" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "145.96901" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Clc1ccc(Cl)cc1" xsd:string [Term] id: CHEBI:28619 name: acrylamide namespace: chebi_ontology alt_id: CHEBI:22215 alt_id: CHEBI:2441 def: "A member of the class of acrylamides that results from the formal condensation of acrylic acid with ammonia." [] subset: 3_STAR synonym: "2-Propenamide" RELATED [KEGG_COMPOUND] synonym: "Acrylamide" EXACT [KEGG_COMPOUND] synonym: "acrylamide" EXACT [UniProt] synonym: "Akrylamid" RELATED [NIST_Chemistry_WebBook] synonym: "ethylenecarboxamide" RELATED [NIST_Chemistry_WebBook] synonym: "prop-2-enamide" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:605349 {source="Beilstein"} xref: CAS:79-06-1 {source="NIST Chemistry WebBook"} xref: CAS:79-06-1 {source="ChemIDplus"} xref: CAS:79-06-1 {source="KEGG COMPOUND"} xref: Gmelin:81842 {source="Gmelin"} xref: HMDB:HMDB0004296 xref: KEGG:C01659 xref: MeSH:D020106 xref: NCIt:C44329 xref: Patent:US2535245 xref: PMID:10719038 {source="Europe PMC"} xref: PMID:12166997 {source="Europe PMC"} xref: PMID:15240786 {source="Europe PMC"} xref: PMID:15901921 {source="Europe PMC"} xref: PMID:17032038 {source="Europe PMC"} xref: PMID:17234719 {source="Europe PMC"} xref: PMID:17484107 {source="Europe PMC"} xref: PMID:17558658 {source="Europe PMC"} xref: PMID:17720246 {source="Europe PMC"} xref: PMID:18469268 {source="Europe PMC"} xref: PMID:19022940 {source="Europe PMC"} xref: PMID:19846048 {source="Europe PMC"} xref: PMID:22136129 {source="Europe PMC"} xref: PMID:22784192 {source="Europe PMC"} xref: PMID:7767980 {source="Europe PMC"} xref: Reaxys:605349 {source="Reaxys"} xref: SNOMEDCT:6983000 xref: UM-BBD_compID:c0149 {source="UM-BBD"} xref: Wikipedia:Acrylamide is_a: EFO:0004417 ! amide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H5NO" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H5NO/c1-2-3(4)5/h2H,1H2,(H2,4,5)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HRPVXLWXLXDGHG-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "71.07794" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "71.03711" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NC(=O)C=C" xsd:string [Term] id: CHEBI:28623 name: campesterol namespace: chebi_ontology alt_id: CHEBI:22994 alt_id: CHEBI:3342 subset: 3_STAR synonym: "(24R)ergost-5-en-3beta-ol" RELATED [IUPAC] synonym: "campest-5-en-3beta-ol" EXACT IUPAC_NAME [IUPAC] synonym: "Campesterol" EXACT [KEGG_COMPOUND] synonym: "campesterol" EXACT [UniProt] xref: CAS:474-62-4 {source="KEGG COMPOUND"} xref: KEGG:C01789 xref: KNApSAcK:C00003647 xref: LIPID_MAPS_instance:LMST01030097 {source="LIPID MAPS"} is_a: CHEBI:15889 ! sterol property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C28H48O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C28H48O/c1-18(2)19(3)7-8-20(4)24-11-12-25-23-10-9-21-17-22(29)13-15-27(21,5)26(23)14-16-28(24,25)6/h9,18-20,22-26,29H,7-8,10-17H2,1-6H3/t19-,20-,22+,23+,24-,25+,26+,27+,28-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SGNBVLSWZMBQTH-PODYLUTMSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "400.68012" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "400.37052" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]1(CC[C@@]2([H])[C@]3([H])CC=C4C[C@@H](O)CC[C@]4(C)[C@@]3([H])CC[C@]12C)[C@H](C)CC[C@@H](C)C(C)C" xsd:string [Term] id: CHEBI:28640 name: lipoteichoic acid namespace: chebi_ontology alt_id: CHEBI:25063 alt_id: CHEBI:6496 def: "A teichoic acid which is covalently bound to a lipid." [] subset: 3_STAR xref: MeSH:C009900 xref: PMID:6083437 {source="Europe PMC"} xref: PMID:9188087 {source="Europe PMC"} is_a: EFO:0004416 ! acid [Term] id: CHEBI:28654 name: 3-methyl-2-oxovalerate namespace: chebi_ontology alt_id: CHEBI:1585 alt_id: CHEBI:20116 def: "A 2-oxo monocarboxylic acid anion that is the conjugate base of 3-methyl-2-oxovaleric acid, arising from deprotonation of the carboxy group; major species at pH 7.3." [] subset: 3_STAR synonym: "2-keto-3-methylvalerate" RELATED [HMDB] synonym: "2-Oxo-3-methylpentanoate" RELATED [HMDB] synonym: "2-Oxo-3-methylvalerate" RELATED [KEGG_COMPOUND] synonym: "3-Methyl-2-oxopentanoate" RELATED [HMDB] synonym: "3-methyl-2-oxopentanoate" EXACT IUPAC_NAME [IUPAC] synonym: "3-Methyl-2-oxovalerate" EXACT [HMDB] synonym: "alpha-keto-beta-methylvalerate" RELATED [ChEBI] synonym: "alpha-oxo-beta-methylvalerate" RELATED [ChEBI] xref: Beilstein:3904281 {source="Beilstein"} xref: HMDB:HMDB0000491 xref: KEGG:C03465 xref: Reaxys:3904281 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H9O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H10O3/c1-3-4(2)5(7)6(8)9/h4H,3H2,1-2H3,(H,8,9)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JVQYSWDUAOAHFM-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "129.13390" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "129.05572" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCC(C)C(=O)C([O-])=O" xsd:string [Term] id: CHEBI:28659 name: phosphorus atom namespace: chebi_ontology alt_id: CHEBI:26080 alt_id: CHEBI:8168 subset: 3_STAR synonym: "15P" RELATED [IUPAC] synonym: "fosforo" RELATED [ChEBI] synonym: "P" RELATED [IUPAC] synonym: "P" RELATED [KEGG_COMPOUND] synonym: "Phosphor" RELATED [ChEBI] synonym: "phosphore" RELATED [ChEBI] synonym: "Phosphorus" RELATED [KEGG_COMPOUND] synonym: "phosphorus" EXACT IUPAC_NAME [IUPAC] synonym: "phosphorus" RELATED [ChEBI] xref: CAS:7723-14-0 {source="ChemIDplus"} xref: CAS:7723-14-0 {source="KEGG COMPOUND"} xref: Gmelin:16235 {source="Gmelin"} xref: KEGG:C06262 xref: WebElements:P is_a: CHEBI:33250 ! atom property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OAICVXFJPJFONN-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "30.97376" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "30.97376" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[P]" xsd:string [Term] id: CHEBI:28661 name: gamma-linolenic acid namespace: chebi_ontology alt_id: CHEBI:10573 alt_id: CHEBI:24197 def: "A C18, omega-6 acid fatty acid comprising a linolenic acid having cis- double bonds at positions 6, 9 and 12." [] subset: 3_STAR synonym: "(6,9,12)-linolenic acid" RELATED [CBN] synonym: "(6Z,9Z,12Z)-octadeca-6,9,12-trienoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "(6Z,9Z,12Z)-Octadecatrienoic acid" RELATED [KEGG_COMPOUND] synonym: "(Z,Z,Z)-6,9,12-octadecatrienoic acid" RELATED [ChemIDplus] synonym: "18:3 (n-6)" RELATED [ChEBI] synonym: "6,9,12-Octadecatrienoic acid" RELATED [KEGG_COMPOUND] synonym: "6-cis,9-cis,12-cis-octadecatrienoic acid" RELATED [ChEBI] synonym: "all-cis-6,9,12-octadecatrienoic acid" RELATED [ChEBI] synonym: "C18:3 (n-6)" RELATED [ChEBI] synonym: "C18:3, n-6,9,12 all-cis" RELATED [ChEBI] synonym: "cis-Delta(6,9,12)-octadecatrienoic acid" RELATED [ChEBI] synonym: "gamma-Linolenic acid" EXACT [KEGG_COMPOUND] synonym: "gamma-Linolensaeure" RELATED [ChEBI] synonym: "gamoleic acid" RELATED [ChEBI] synonym: "Gamolenic acid" RELATED [KEGG_COMPOUND] synonym: "gamolenic acid" RELATED [ChemIDplus] synonym: "GLA" RELATED [ChEBI] synonym: "Octadeca-6,9,12-triensaeure" RELATED [ChEBI] xref: Beilstein:1712253 {source="Beilstein"} xref: CAS:506-26-3 {source="NIST Chemistry WebBook"} xref: CAS:506-26-3 {source="KEGG COMPOUND"} xref: CiteXplore:10617998 xref: CiteXplore:11164299 xref: CiteXplore:11385052 xref: CiteXplore:11421921 xref: CiteXplore:12010583 xref: CiteXplore:14569405 xref: CiteXplore:21359215 xref: CiteXplore:24435467 xref: CiteXplore:2550526 xref: CiteXplore:373941 xref: CiteXplore:8884146 xref: CiteXplore:9202801 xref: CiteXplore:9306089 xref: CiteXplore:9415022 xref: CiteXplore:9732298 xref: Drug_Central:1276 {source="DrugCentral"} xref: HMDB:HMDB0003073 xref: HMDB:HMDB03073 xref: KEGG COMPOUND:506-26-3 xref: KEGG COMPOUND:C06426 xref: KEGG DRUG:D07213 xref: KEGG:C06426 xref: KEGG:D07213 xref: KNApSAcK:C00001226 xref: LIPID MAPS:LMFA01030141 xref: LIPID_MAPS_instance:LMFA01030141 {source="LIPID MAPS"} xref: MetaCyc:5Z13E-15S-91115-TRIHYDROXYPROSTA- xref: MetaCyc:CPD-8117 xref: NIST Chemistry WebBook:506-26-3 xref: PMID:11385052 {source="Europe PMC"} xref: PMID:24435467 {source="Europe PMC"} xref: PMID:9732298 {source="Europe PMC"} xref: Reaxys:1712253 {source="Reaxys"} xref: Wikipedia:gamma-Linolenic acid xref: Wikipedia:Gamma-Linolenic_acid is_a: CHEBI:25048 ! linolenic acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H30O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H30O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-18(19)20/h6-7,9-10,12-13H,2-5,8,11,14-17H2,1H3,(H,19,20)/b7-6-,10-9-,13-12-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VZCCETWTMQHEPK-QNEBEIHSSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "278.42960" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "278.22458" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCC\\C=C/C\\C=C/C\\C=C/CCCCC(O)=O" xsd:string [Term] id: CHEBI:28666 name: leukotriene D4 namespace: chebi_ontology alt_id: CHEBI:25026 alt_id: CHEBI:6423 def: "A leukotriene that is (7E,9E,11Z,14Z)-icosa-7,9,11,14-tetraenoic acid substituted by a hydroxy group at position 5 (5S) and a L-cysteinylglycinyl group at position 6 (6R)." [] subset: 3_STAR synonym: "(R-(R*,S*-(E,E,Z,Z)))-N-(S-(1-(4-Carboxy-1-hydroxybutyl)-2,4,6,9-pentadecatetraenyl)-L-cysteinyl)glycine" RELATED [ChemIDplus] synonym: "5S-hydroxy-6R-(S-cysteinylglycinyl)-7E,9E,11E,14Z-eicosatetraenoic acid" RELATED [LIPID_MAPS] synonym: "Leukotriene D4" EXACT [KEGG_COMPOUND] synonym: "LTD4" RELATED [KEGG_COMPOUND] synonym: "S-{(1R,2E,4E,6Z,9Z)-1-[(1S)-4-carboxy-1-hydroxybutyl]pentadeca-2,4,6,9-tetraen-1-yl}-L-cysteinylglycine" EXACT IUPAC_NAME [IUPAC] xref: CAS:73836-78-9 {source="ChemIDplus"} xref: CAS:73836-78-9 {source="KEGG COMPOUND"} xref: HMDB:HMDB0003080 xref: KEGG:C05951 xref: LIPID_MAPS_instance:LMFA03020006 {source="LIPID MAPS"} xref: PMID:23825762 {source="Europe PMC"} xref: PMID:9160411 {source="Europe PMC"} xref: Reaxys:4726738 {source="Reaxys"} xref: Wikipedia:Leukotriene_D4 is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C25H40N2O6S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C25H40N2O6S/c1-2-3-4-5-6-7-8-9-10-11-12-13-16-22(21(28)15-14-17-23(29)30)34-19-20(26)25(33)27-18-24(31)32/h6-7,9-13,16,20-22,28H,2-5,8,14-15,17-19,26H2,1H3,(H,27,33)(H,29,30)(H,31,32)/b7-6-,10-9-,12-11+,16-13+/t20-,21-,22+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YEESKJGWJFYOOK-IJHYULJSSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "496.66000" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "496.26071" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCC\\C=C/C\\C=C/C=C/C=C/[C@@H](SC[C@H](N)C(=O)NCC(O)=O)[C@@H](O)CCCC(O)=O" xsd:string [Term] id: CHEBI:28680 name: cytarabine namespace: chebi_ontology alt_id: CHEBI:23532 alt_id: CHEBI:4074 alt_id: CHEBI:40824 def: "A pyrimidine nucleoside in which cytosine is attached to D-arabinofuranose via a beta-N(1)-glycosidic bond. Used mainly in the treatment of leukaemia, especially acute non-lymphoblastic leukaemia, cytarabine is an antimetabolite antineoplastic agent that inhibits the synthesis of DNA. It also has antiviral and immunosuppressant properties." [] subset: 3_STAR synonym: "1-beta-D-Arabinofuranosylcytosine" RELATED [ChemIDplus] synonym: "4-Amino-1-beta-D-arabinofuranosyl-2(1H)-pyrimidinone" RELATED [ChemIDplus] synonym: "4-amino-1-beta-D-arabinofuranosylpyrimidin-2(1H)-one" EXACT IUPAC_NAME [IUPAC] synonym: "ara-C" RELATED [ChEBI] synonym: "arabinocytosine" RELATED [DrugCentral] synonym: "Arabinoside C" RELATED [DrugCentral] synonym: "citarabina" RELATED INN [ChemIDplus] synonym: "Cytarabine" EXACT [KEGG_COMPOUND] synonym: "cytarabine" RELATED INN [WHO_MedNet] synonym: "cytarabine" RELATED INN [ChemIDplus] synonym: "cytarabinum" RELATED INN [ChemIDplus] synonym: "Cytosine arabinoside" RELATED [KEGG_COMPOUND] synonym: "Cytosine-1-beta-D-arabinofuranoside" RELATED [KEGG_COMPOUND] synonym: "cytosine-beta-D-arabinofuranoside" RELATED [ChEBI] xref: Beilstein:89175 {source="Beilstein"} xref: CAS:147-94-4 {source="ChemIDplus"} xref: CAS:147-94-4 {source="KEGG COMPOUND"} xref: Drug_Central:770 {source="DrugCentral"} xref: DrugBank:DB00987 xref: HMDB:HMDB0015122 xref: KEGG:C02961 xref: KEGG:D00168 xref: LINCS:LSM-5470 xref: MeSH:D003561 xref: NCIt:C408 xref: PDBeChem:AR3 xref: PMID:15492802 {source="Europe PMC"} xref: Reaxys:89175 {source="Reaxys"} xref: SNOMEDCT:387511003 xref: SNOMEDCT:89265009 xref: Wikipedia:Cytarabine is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H13N3O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H13N3O5/c10-5-1-2-12(9(16)11-5)8-7(15)6(14)4(3-13)17-8/h1-2,4,6-8,13-15H,3H2,(H2,10,11,16)/t4-,6-,7+,8-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UHDGCWIWMRVCDJ-CCXZUQQUSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "243.21674" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "243.08552" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Nc1ccn([C@@H]2O[C@H](CO)[C@@H](O)[C@@H]2O)c(=O)n1" xsd:string [Term] id: CHEBI:28683 name: kynurenine namespace: chebi_ontology alt_id: CHEBI:24992 alt_id: CHEBI:6148 def: "A ketone that is alanine in which one of the methyl hydrogens is substituted by a 2-aminobenzoyl group." [] subset: 3_STAR synonym: "2-amino-4-(2-aminophenyl)-4-oxobutanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "Kynurenine" EXACT [KEGG_COMPOUND] xref: CAS:343-65-7 {source="ChemIDplus"} xref: KEGG:C01718 xref: PMID:14651996 {source="Europe PMC"} xref: PMID:16139256 {source="Europe PMC"} xref: PMID:17386621 {source="Europe PMC"} xref: PMID:19027117 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: Reaxys:2697333 {source="Reaxys"} is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H12N2O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H12N2O3/c11-7-4-2-1-3-6(7)9(13)5-8(12)10(14)15/h1-4,8H,5,11-12H2,(H,14,15)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YGPSJZOEDVAXAB-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "208.21396" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "208.08479" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NC(CC(=O)c1ccccc1N)C(O)=O" xsd:string [Term] id: CHEBI:28689 name: dehydroepiandrosterone namespace: chebi_ontology alt_id: CHEBI:11911 alt_id: CHEBI:1723 alt_id: CHEBI:20246 alt_id: CHEBI:40738 alt_id: CHEBI:86953 def: "An androstanoid that is androst-5-ene substituted by a beta-hydroxy group at position 3 and an oxo group at position 17. It is a naturally occurring steroid hormone produced by the adrenal glands." [] subset: 3_STAR synonym: "3-BETA-HYDROXY-5-ANDROSTEN-17-ONE" RELATED [PDBeChem] synonym: "3beta-Hydroxyandrost-5-en-17-one" RELATED [KEGG_COMPOUND] synonym: "3beta-hydroxyandrost-5-en-17-one" EXACT IUPAC_NAME [IUPAC] synonym: "3beta-hydroxyandrost-5-en-17-one" RELATED [UniProt] synonym: "3beta-hydroxyandrost-5-en-17-one" RELATED [ChEBI] synonym: "Dehydroepiandrosterone" EXACT [KEGG_COMPOUND] synonym: "Dehydroisoandrosterone" RELATED [KEGG_COMPOUND] synonym: "DHA" RELATED [KEGG_COMPOUND] synonym: "DHEA" RELATED [KEGG_COMPOUND] synonym: "Intrarosa" RELATED BRAND_NAME [ChemIDplus] synonym: "Prasterone" RELATED [ChemIDplus] xref: CAS:53-43-0 {source="ChemIDplus"} xref: CAS:53-43-0 {source="KEGG COMPOUND"} xref: Drug_Central:795 {source="DrugCentral"} xref: DrugBank:DB01708 xref: HMDB:HMDB0000077 xref: KEGG:C01227 xref: KEGG:D08409 xref: LIPID_MAPS_instance:LMST02020021 {source="LIPID MAPS"} xref: MeSH:D003687 xref: MetaCyc:3-BETA-HYDROXYANDROST-5-EN-17-ONE xref: NCIt:C2265 xref: PDBeChem:AND xref: PMID:14662261 {source="Europe PMC"} xref: PMID:18634257 {source="Europe PMC"} xref: PMID:24256992 {source="Europe PMC"} xref: PMID:24424045 {source="Europe PMC"} xref: Reaxys:2058110 {source="Reaxys"} xref: SNOMEDCT:78316004 xref: Wikipedia:Dehydroepiandrosterone is_a: CHEBI:35341 ! steroid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H28O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H28O2/c1-18-9-7-13(20)11-12(18)3-4-14-15-5-6-17(21)19(15,2)10-8-16(14)18/h3,13-16,20H,4-11H2,1-2H3/t13-,14-,15-,16-,18-,19-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FMGSKLZLMKYGDP-USOAJAOKSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "288.42440" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "288.20893" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12CC=C3C[C@@H](O)CC[C@]3(C)[C@@]1([H])CC[C@]1(C)C(=O)CC[C@@]21[H]" xsd:string [Term] id: CHEBI:28694 name: copper atom namespace: chebi_ontology alt_id: CHEBI:23376 alt_id: CHEBI:3874 subset: 3_STAR synonym: "29Cu" RELATED [IUPAC] synonym: "cobre" RELATED [ChEBI] synonym: "Copper" RELATED [KEGG_COMPOUND] synonym: "copper" EXACT IUPAC_NAME [IUPAC] synonym: "copper" RELATED [ChEBI] synonym: "Cu" RELATED [ChEBI] synonym: "Cu" RELATED [IUPAC] synonym: "cuivre" RELATED [ChEBI] synonym: "cuprum" RELATED [IUPAC] synonym: "Kupfer" RELATED [ChEBI] xref: CAS:7440-50-8 {source="ChemIDplus"} xref: CAS:7440-50-8 {source="KEGG COMPOUND"} xref: Gmelin:16269 {source="Gmelin"} xref: KEGG:C00070 xref: MeSH:D003300 xref: NCIt:C391 xref: SNOMEDCT:422528000 xref: SNOMEDCT:66925006 xref: WebElements:Cu is_a: CHEBI:33250 ! atom property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "Cu" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/Cu" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RYGMFSIKBFXOCR-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "63.54600" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "62.92960" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Cu]" xsd:string [Term] id: CHEBI:28717 name: O-decanoyl-L-carnitine namespace: chebi_ontology alt_id: CHEBI:21951 alt_id: CHEBI:7681 def: "An O-acyl-L-carnitine that is L-carnitine having decanoyl as the acyl substituent." [] subset: 3_STAR synonym: "(3R)-3-(decanoyloxy)-4-(trimethylazaniumyl)butanoate" EXACT IUPAC_NAME [IUPAC] synonym: "L-decanoylcarnitine" RELATED [ChEBI] synonym: "O-decanoyl-(R)-carnitine" RELATED [UniProt] synonym: "O-decanoyl-R-carnitine" RELATED [LIPID_MAPS] xref: KEGG:C03299 xref: LIPID_MAPS_instance:LMFA07070006 {source="LIPID MAPS"} xref: PMID:11420183 {source="Europe PMC"} xref: PMID:12385891 {source="Europe PMC"} xref: PMID:23078175 {source="Europe PMC"} xref: Reaxys:4145305 {source="Reaxys"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C17H33NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C17H33NO4/c1-5-6-7-8-9-10-11-12-17(21)22-15(13-16(19)20)14-18(2,3)4/h15H,5-14H2,1-4H3/t15-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LZOSYCMHQXPBFU-OAHLLOKOSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "315.449" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "315.24096" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O([C@@H](C[N+](C)(C)C)CC([O-])=O)C(CCCCCCCCC)=O" xsd:string [Term] id: CHEBI:28733 name: 1-linoleoyl-sn-glycero-3-phosphocholine namespace: chebi_ontology alt_id: CHEBI:19057 alt_id: CHEBI:637 alt_id: CHEBI:73869 alt_id: CHEBI:84022 def: "A lysophosphatidylcholine 18:2 in which the acyl group at position 1 is (9Z,12Z)-octadecadienoyl." [] subset: 3_STAR synonym: "(2R)-2-hydroxy-3-[(9Z,12Z)-octadeca-9,12-dienoyloxy]propyl 2-(trimethylammonio)ethyl phosphate" EXACT IUPAC_NAME [IUPAC] synonym: "(2R)-2-hydroxy-3-[(9Z,12Z)-octadeca-9,12-dienoyloxy]propyl 2-(trimethylazaniumyl)ethyl phosphate" EXACT IUPAC_NAME [IUPAC] synonym: "1-(9Z,12Z)-octadecadienoyl-sn-glycero-3-phosphocholine" RELATED [UniProt] synonym: "1-(9Z,12Z-octadecadienoyl)-glycero-3-phosphocholine" RELATED [HMDB] synonym: "1-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine" RELATED [MetaCyc] synonym: "1-18:2-lysoPC" RELATED [MetaCyc] synonym: "1-Linoleoyl-glycero-3-phosphocholine" RELATED [HMDB] synonym: "1-linoleoyl-GPC" RELATED [ChEBI] synonym: "1-linoleoyl-GPC (18:2)" RELATED [ChEBI] synonym: "1-Linoleoyl-sn-glycero-3-phosphocholine" EXACT [KEGG_COMPOUND] synonym: "1-Linoleoylglycerophosphocholine" RELATED [SUBMITTER] synonym: "1-Linoleoylglycerophosphocholine" RELATED [KEGG_COMPOUND] synonym: "GPC(18:2)" RELATED [ChEBI] synonym: "GPC(18:2/0:0)" RELATED [ChEBI] synonym: "LPC 18:2(9Z,12Z)/0:0" RELATED [ChEBI] synonym: "LPC(18:2)" RELATED [HMDB] synonym: "LPC(18:2/0:0)" RELATED [HMDB] synonym: "LPC(18:2n6/0:0)" RELATED [HMDB] synonym: "LPC(18:2omega6/0:0)" RELATED [HMDB] synonym: "LyPC(18:2)" RELATED [HMDB] synonym: "LyPC(18:2n6/0:0)" RELATED [HMDB] synonym: "LyPC(18:2omega6/0:0)" RELATED [HMDB] synonym: "LysoPC 18:2(9Z,12Z)/0:0" RELATED [ChEBI] synonym: "LysoPC(18:2(9Z,12Z)/0:0)" RELATED [ChEBI] synonym: "LysoPC(18:2)" RELATED [HMDB] synonym: "LysoPC(18:2/0:0)" RELATED [HMDB] synonym: "LysoPC(18:2n6/0:0)" RELATED [HMDB] synonym: "LysoPC(18:2omega6/0:0)" RELATED [HMDB] synonym: "lysophosphatidylcholine(18:2(9Z,12Z)/0:0)" RELATED [ChEBI] synonym: "Lysophosphatidylcholine(18:2)" RELATED [HMDB] synonym: "Lysophosphatidylcholine(18:2/0:0)" RELATED [HMDB] synonym: "Lysophosphatidylcholine(18:2n6/0:0)" RELATED [HMDB] synonym: "Lysophosphatidylcholine(18:2omega6/0:0)" RELATED [HMDB] synonym: "PC 18:2(9Z,12Z)/0:0" RELATED [ChEBI] synonym: "PC(18:2(9Z,12Z)/0:0)" RELATED [LIPID_MAPS] xref: HMDB:HMDB0010386 xref: KEGG:C04100 xref: LIPID_MAPS_instance:LMGP01050035 {source="LIPID MAPS"} xref: MetaCyc:CPD-8347 xref: Reaxys:5664613 {source="Reaxys"} is_a: CHEBI:64549 ! lysophosphatidylcholine 18:2 property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C26H50NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C26H50NO7P/c1-5-6-7-8-9-10-11-12-13-14-15-16-17-18-19-20-26(29)32-23-25(28)24-34-35(30,31)33-22-21-27(2,3)4/h9-10,12-13,25,28H,5-8,11,14-24H2,1-4H3/b10-9-,13-12-/t25-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SPJFYYJXNPEZDW-FTJOPAKQSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "519.65150" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "519.33249" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCC\\C=C/C\\C=C/CCCCCCCC(=O)OC[C@@H](O)COP([O-])(=O)OCC[N+](C)(C)C" xsd:string [Term] id: CHEBI:28748 name: doxorubicin namespace: chebi_ontology alt_id: CHEBI:22270 alt_id: CHEBI:2496 alt_id: CHEBI:42031 subset: 3_STAR synonym: "(1S,3S)-3,5,12-trihydroxy-3-(hydroxyacetyl)-10-methoxy-6,11-dioxo-1,2,3,4,6,11-hexahydrotetracen-1-yl 3-amino-2,3,6-trideoxy-alpha-L-lyxo-hexopyranoside" EXACT IUPAC_NAME [IUPAC] synonym: "(1S,3S)-3-glycoloyl-3,5,12-trihydroxy-10-methoxy-6,11-dioxo-1,2,3,4,6,11-hexahydrotetracen-1-yl 3-amino-2,3,6-trideoxy-alpha-L-lyxo-hexopyranoside" RELATED [ChEBI] synonym: "(8S-cis)-10-((3-amino-2,3,6-trideoxy-alpha-L-lyxo-hexopyranosyl)oxy)-7,8,9,10-tetrahydro-6,8,11-trihydroxy-8-(hydroxyacetyl)-1-methoxy-5,12-naphthacenedione" RELATED [ChemIDplus] synonym: "14-hydroxydaunomycin" RELATED [ChemIDplus] synonym: "14-hydroxydaunorubicine" RELATED [ChemIDplus] synonym: "Adriamycin" RELATED [KEGG_COMPOUND] synonym: "DOXORUBICIN" EXACT [PDBeChem] synonym: "Doxorubicin" EXACT [KEGG_COMPOUND] synonym: "doxorubicin" RELATED INN [ChemIDplus] synonym: "doxorubicine" RELATED INN [ChemIDplus] synonym: "doxorubicinum" RELATED INN [ChemIDplus] xref: CAS:23214-92-8 {source="ChemIDplus"} xref: CAS:23214-92-8 {source="KEGG COMPOUND"} xref: Drug_Central:960 {source="DrugCentral"} xref: DrugBank:DB00997 xref: KEGG:C01661 xref: KEGG:D03899 xref: LINCS:LSM-4062 xref: LIPID_MAPS_instance:LMPK13050001 {source="LIPID MAPS"} xref: MeSH:D004317 xref: NCIt:C456 xref: PDBeChem:DM2 xref: SNOMEDCT:372817009 xref: SNOMEDCT:68444001 is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:33281 ! antimicrobial agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C27H29NO11" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C27H29NO11/c1-10-22(31)13(28)6-17(38-10)39-15-8-27(36,16(30)9-29)7-12-19(15)26(35)21-20(24(12)33)23(32)11-4-3-5-14(37-2)18(11)25(21)34/h3-5,10,13,15,17,22,29,31,33,35-36H,6-9,28H2,1-2H3/t10-,13-,15-,17-,22+,27-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "AOJJSUZBOXZQNB-TZSSRYMLSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "543.51930" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "543.17406" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "COc1cccc2C(=O)c3c(O)c4C[C@](O)(C[C@H](O[C@H]5C[C@H](N)[C@H](O)[C@H](C)O5)c4c(O)c3C(=O)c12)C(=O)CO" xsd:string [Term] id: CHEBI:28757 name: fructose namespace: chebi_ontology alt_id: CHEBI:24104 alt_id: CHEBI:24110 alt_id: CHEBI:5172 def: "A ketohexose that is an isomer of glucose." [] subset: 3_STAR synonym: "arabino-hex-2-ulose" EXACT IUPAC_NAME [IUPAC] synonym: "arabino-Hexulose" RELATED [KEGG_COMPOUND] synonym: "Fru" RELATED [JCBN] synonym: "Fruchtzucker" RELATED [ChEBI] synonym: "Fructose" EXACT [KEGG_COMPOUND] synonym: "fructose" EXACT IUPAC_NAME [IUPAC] synonym: "Fruktose" RELATED [ChEBI] xref: CAS:30237-26-4 {source="ChemIDplus"} xref: DrugBank:DB04173 xref: KEGG:C01496 xref: Wikipedia:Fructose is_a: CHEBI:16646 ! carbohydrate [Term] id: CHEBI:28786 name: paraquat dichloride namespace: chebi_ontology alt_id: CHEBI:25856 alt_id: CHEBI:6861 subset: 3_STAR synonym: "1,1'-Dimethyl-4,4'-bipyridinium dichloride" RELATED [KEGG_COMPOUND] synonym: "1,1'-Dimethyl-4,4'-dipyridylium dichloride" RELATED [ChemIDplus] synonym: "1,1'-dimethyl-[4,4'-bipyridin]-1,1'-diium dichloride" EXACT IUPAC_NAME [IUPAC] synonym: "4,4'-Dimethyldipyridyl dichloride" RELATED [ChemIDplus] synonym: "Methyl viologen" RELATED [KEGG_COMPOUND] synonym: "Methyl viologen dichloride" RELATED [ChemIDplus] synonym: "N,N'-Dimethyl-4,4'-bipyridinium dichloride" RELATED [ChemIDplus] synonym: "N,N'-Dimethyl-4,4'-bipyridylium dichloride" RELATED [ChEBI] synonym: "Paraquat dichloride" EXACT [KEGG_COMPOUND] xref: CAS:1910-42-5 {source="ChemIDplus"} xref: CAS:1910-42-5 {source="KEGG COMPOUND"} xref: KEGG:C00225 xref: PPDB:1524 xref: Wikipedia:Paraquat is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12H14N2.2Cl" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C12H14N2.2ClH/c1-13-7-3-11(4-8-13)12-5-9-14(2)10-6-12;;/h3-10H,1-2H3;2*1H/q+2;;/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FIKAKWIAUPDISJ-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "257.15900" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "256.05340" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Cl-].[Cl-].C[n+]1ccc(cc1)-c1cc[n+](C)cc1" xsd:string [Term] id: CHEBI:28790 name: serotonin namespace: chebi_ontology alt_id: CHEBI:1420 alt_id: CHEBI:26652 alt_id: CHEBI:49894 def: "A primary amino compound that is the 5-hydroxy derivative of tryptamine." [] subset: 3_STAR synonym: "3-(2-Aminoethyl)-1H-indol-5-ol" RELATED [KEGG_COMPOUND] synonym: "3-(2-aminoethyl)-1H-indol-5-ol" EXACT IUPAC_NAME [IUPAC] synonym: "5-HT" RELATED [IUPHAR] synonym: "5-Hydroxytryptamine" RELATED [KEGG_COMPOUND] synonym: "Enteramine" RELATED [KEGG_COMPOUND] synonym: "SEROTONIN" EXACT [PDBeChem] synonym: "Serotonin" EXACT [KEGG_COMPOUND] synonym: "serotonine" RELATED [ChEBI] synonym: "thrombocytin" RELATED [ChemIDplus] synonym: "thrombotonin" RELATED [ChemIDplus] xref: Beilstein:143524 {source="Beilstein"} xref: CAS:50-67-9 {source="KEGG COMPOUND"} xref: CAS:50-67-9 {source="ChemIDplus"} xref: ChemIDplus:50-67-9 xref: Gmelin:1861995 {source="Gmelin"} xref: HMDB:HMDB0000259 xref: KEGG COMPOUND:50-67-9 xref: KEGG COMPOUND:C00780 xref: KEGG:C00780 xref: KNApSAcK:C00001429 xref: LINCS:LSM-6589 xref: MeSH:D012701 xref: MetaCyc:SEROTONIN xref: NCIt:C828 xref: PDBeChem:SRO xref: PMID:18593914 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: PMID:24136337 {source="Europe PMC"} xref: Reaxys:143524 {source="Reaxys"} xref: SNOMEDCT:33635003 xref: Wikipedia:Serotonin is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:33853 ! phenols property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H12N2O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H12N2O/c11-4-3-7-6-12-10-2-1-8(13)5-9(7)10/h1-2,5-6,12-13H,3-4,11H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QZAYGJVTTNCVMB-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "176.215" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "176.09496" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C1=CC(=CC=2C(=CNC12)CCN)O" xsd:string [Term] id: CHEBI:28792 name: erucic acid namespace: chebi_ontology alt_id: CHEBI:23275 alt_id: CHEBI:4836 def: "A docosenoic acid having a cis- double bond at C-13. It is found particularly in brassicas - it is a major component of mustard and rapeseed oils and is produced by broccoli, Brussels sprouts, kale, and wallflowers." [] subset: 3_STAR synonym: "(13Z)-13-docosenoic acid" RELATED [NIST_Chemistry_WebBook] synonym: "(13Z)-docos-13-enoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "(13Z)-Docosenoic acid" RELATED [KEGG_COMPOUND] synonym: "(Z)-13-docosenoic acid" RELATED [NIST_Chemistry_WebBook] synonym: "(Z)-docos-13-enoic acid" RELATED [ChemIDplus] synonym: "13-cis-docosenoic acid" RELATED [ChemIDplus] synonym: "22:1omega9" RELATED [ChEBI] synonym: "C22:1n-9" RELATED [LIPID_MAPS] synonym: "cis-13-Docosenoic acid" RELATED [KEGG_COMPOUND] synonym: "cis-Delta(13)-docosenoic acid" RELATED [ChEBI] synonym: "cis-eruic acid" RELATED [LIPID_MAPS] synonym: "docos-13c-enoic acid" RELATED [ChEBI] synonym: "Erucasaeure" RELATED [ChEBI] synonym: "Erucic acid" EXACT [KEGG_COMPOUND] xref: Beilstein:1728049 {source="Beilstein"} xref: CAS:112-86-7 {source="ChemIDplus"} xref: CAS:112-86-7 {source="NIST Chemistry WebBook"} xref: CAS:112-86-7 {source="KEGG COMPOUND"} xref: Gmelin:177365 {source="Gmelin"} xref: HMDB:HMDB0002068 xref: KEGG:C08316 xref: KNApSAcK:C00001217 xref: LIPID_MAPS_instance:LMFA01030089 {source="LIPID MAPS"} xref: MetaCyc:CPD-14292 xref: PMID:1170010 {source="Europe PMC"} xref: PMID:7847331 {source="Europe PMC"} xref: Reaxys:1728049 {source="Reaxys"} xref: Wikipedia:Erucic_acid is_a: CHEBI:35366 ! fatty acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H42O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C22H42O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-18-19-20-21-22(23)24/h9-10H,2-8,11-21H2,1H3,(H,23,24)/b10-9-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DPUOLQHDNGRHBS-KTKRTIGZSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "338.56770" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "338.31848" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCC\\C=C/CCCCCCCCCCCC(O)=O" xsd:string [Term] id: CHEBI:28794 name: coumarin namespace: chebi_ontology alt_id: CHEBI:101256 alt_id: CHEBI:23402 alt_id: CHEBI:3906 alt_id: CHEBI:41552 def: "A chromenone having the keto group located at the 2-position." [] subset: 3_STAR synonym: "1,2-Benzopyrone" RELATED [KEGG_COMPOUND] synonym: "2-Propenoic acid, 3-(2-hydroxyphenyl)-, d-lactone" RELATED [KEGG_COMPOUND] synonym: "2-Propenoic acid, 3-(2-hydroxyphenyl)-, delta-lactone" RELATED [KEGG_COMPOUND] synonym: "2H-1-Benzopyran-2-one" RELATED [KEGG_COMPOUND] synonym: "2H-benzo[b]pyran-2-one" RELATED [NIST_Chemistry_WebBook] synonym: "2H-chromen-2-one" EXACT IUPAC_NAME [IUPAC] synonym: "5,6-Benzo-2-pyrone" RELATED [KEGG_COMPOUND] synonym: "Benzo-a-pyrone" RELATED [KEGG_COMPOUND] synonym: "Benzo-alpha-pyrone" RELATED [KEGG_COMPOUND] synonym: "cis-o-Coumarinic acid lactone" RELATED [KEGG_COMPOUND] synonym: "Coumarine" RELATED [KEGG_COMPOUND] synonym: "Coumarinic anhydride" RELATED [KEGG_COMPOUND] synonym: "Cumarin" RELATED [KEGG_COMPOUND] synonym: "o-hydroxycinnamic acid delta-lactone" RELATED [NIST_Chemistry_WebBook] synonym: "o-Hydroxycinnamic acid lactone" RELATED [KEGG_COMPOUND] synonym: "Rattex" RELATED [KEGG_COMPOUND] synonym: "Tonka bean camphor" RELATED [KEGG_COMPOUND] xref: Beilstein:383644 {source="Beilstein"} xref: CAS:91-64-5 {source="ChemIDplus"} xref: CAS:91-64-5 {source="NIST Chemistry WebBook"} xref: CAS:91-64-5 {source="KEGG COMPOUND"} xref: ChemIDplus:91-64-5 xref: CiteXplore:17988284 xref: CiteXplore:19025869 xref: CiteXplore:21046436 xref: CiteXplore:21462332 xref: CiteXplore:21798343 xref: CiteXplore:8735869 xref: Drug_Central:738 {source="DrugCentral"} xref: DrugBank:DB04665 xref: Gmelin:165222 {source="Gmelin"} xref: HMDB:HMDB0001218 xref: HMDB:HMDB01218 xref: KEGG COMPOUND:91-64-5 xref: KEGG COMPOUND:C05851 xref: KEGG DRUG:D07751 xref: KEGG:C05851 xref: KEGG:D07751 xref: KNApSAcK:C00002460 xref: LINCS:LSM-2519 xref: MeSH:C030123 xref: MetaCyc:COUMARIN xref: NCIt:C397 xref: NIST Chemistry WebBook:91-64-5 xref: PDBeChem:COU xref: PMID:16086027 {source="Europe PMC"} xref: PMID:16822524 {source="Europe PMC"} xref: PMID:17988284 {source="Europe PMC"} xref: PMID:19025869 {source="Europe PMC"} xref: PMID:20206186 {source="Europe PMC"} xref: PMID:21046436 {source="Europe PMC"} xref: PMID:21462332 {source="Europe PMC"} xref: PMID:21798343 {source="Europe PMC"} xref: PMID:28166217 {source="Europe PMC"} xref: PMID:8735869 {source="Europe PMC"} xref: Reaxys:383644 {source="Reaxys"} xref: SNOMEDCT:90944001 xref: Wikipedia:Coumarin is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H6O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H6O2/c10-9-6-5-7-3-1-2-4-8(7)11-9/h1-6H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ZYGHJZDHTFUPRJ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "146.14270" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "146.145" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "146.03678" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O=C1OC2=CC=CC=C2C=C1" xsd:string [Term] id: CHEBI:28821 name: piperine namespace: chebi_ontology alt_id: CHEBI:12539 alt_id: CHEBI:21491 alt_id: CHEBI:7348 def: "A N-acylpiperidine that is piperidine substituted by a (1E,3E)-1-(1,3-benzodioxol-5-yl)-5-oxopenta-1,3-dien-5-yl group at the nitrogen atom. It is an alkaloid isolated from the plant Piper nigrum." [] subset: 3_STAR synonym: "(E,E)-1-piperoylpiperidine" RELATED [ChemIDplus] synonym: "1-[(2E,4E)-5-(1,3-benzodioxol-5-yl)-1-oxo-2,4-pentadienyl]piperidine" RELATED [ChemIDplus] synonym: "1-[(2E,4E)-5-(1,3-benzodioxol-5-yl)-2,4-pentadienoyl]piperidine" RELATED [NIST_Chemistry_WebBook] synonym: "1-[(2E,4E)-5-(1,3-benzodioxol-5-yl)penta-2,4-dienoyl]piperidine" EXACT IUPAC_NAME [IUPAC] synonym: "1-Piperoyl-piperidine" RELATED [KEGG_COMPOUND] synonym: "1-piperoylpiperidine" RELATED [NIST_Chemistry_WebBook] synonym: "N-[(E,E)-Piperoyl]piperidine" RELATED [KEGG_COMPOUND] synonym: "Piperine" EXACT [KEGG_COMPOUND] synonym: "piperine" EXACT [UniProt] xref: Beilstein:90741 {source="Beilstein"} xref: CAS:94-62-2 {source="ChemIDplus"} xref: CAS:94-62-2 {source="NIST Chemistry WebBook"} xref: CAS:94-62-2 {source="KEGG COMPOUND"} xref: Gmelin:341351 {source="Gmelin"} xref: HMDB:HMDB0029377 xref: KEGG:C03882 xref: KNApSAcK:C00002065 xref: PMID:10575373 {source="Europe PMC"} xref: PMID:15531295 {source="Europe PMC"} xref: PMID:18639606 {source="Europe PMC"} xref: PMID:19110999 {source="Europe PMC"} xref: PMID:24272201 {source="Europe PMC"} xref: PMID:25645812 {source="Europe PMC"} xref: PMID:8347144 {source="Europe PMC"} xref: Reaxys:90741 {source="Reaxys"} xref: Wikipedia:Piperine is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C17H19NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C17H19NO3/c19-17(18-10-4-1-5-11-18)7-3-2-6-14-8-9-15-16(12-14)21-13-20-15/h2-3,6-9,12H,1,4-5,10-11,13H2/b6-2+,7-3+" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "MXXWOMGUGJBKIW-YPCIICBESA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "285.33770" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "285.13649" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O=C(\\C=C\\C=C\\c1ccc2OCOc2c1)N1CCCCC1" xsd:string [Term] id: CHEBI:28824 name: stigmasterol namespace: chebi_ontology alt_id: CHEBI:26774 alt_id: CHEBI:8195 def: "A 3beta-sterol that consists of 3beta-hydroxystigmastane having double bonds at the 5,6- and 22,23-positions." [] subset: 3_STAR synonym: "(22E)-stigmasta-5,22-dien-3beta-ol" EXACT IUPAC_NAME [IUPAC] synonym: "(3beta,22E)-stigmasta-5,22-dien-3-ol" RELATED [HMDB] synonym: "5,22-Cholestadien-24-ethyl-3beta-ol" RELATED [NIST_Chemistry_WebBook] synonym: "beta-stigmasterol" RELATED [NIST_Chemistry_WebBook] synonym: "phytosterol" RELATED [NIST_Chemistry_WebBook] synonym: "poriferasterol" RELATED [HMDB] synonym: "stigmasta-5,22-dien-3beta-ol" RELATED [NIST_Chemistry_WebBook] synonym: "Stigmasterol" EXACT [KEGG_COMPOUND] synonym: "stigmasterol" EXACT [UniProt] xref: Beilstein:2568182 {source="Beilstein"} xref: CAS:83-48-7 {source="ChemIDplus"} xref: CAS:83-48-7 {source="NIST Chemistry WebBook"} xref: CAS:83-48-7 {source="KEGG COMPOUND"} xref: ChemIDplus:83-48-7 xref: CiteXplore:13318319 xref: CiteXplore:13547565 xref: HMDB:HMDB0000937 xref: HMDB:HMDB00937 xref: KEGG COMPOUND:83-48-7 xref: KEGG COMPOUND:C05442 xref: KEGG:C05442 xref: KNApSAcK:C00003674 xref: KNApSAcK:C00023774 xref: LIPID_MAPS_instance:LMST01040123 {source="LIPID MAPS"} xref: MeSH:D010840 xref: MeSH:D013265 xref: NCIt:C28178 xref: NIST Chemistry WebBook:83-48-7 xref: PMID:13318319 {source="Europe PMC"} xref: PMID:13547565 {source="Europe PMC"} xref: Reaxys:2568182 {source="Reaxys"} xref: SNOMEDCT:226360008 xref: Wikipedia:Stigmasterol is_a: CHEBI:15889 ! sterol relationship: has_role CHEBI:33229 ! vitamin (role) property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C29H48O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C29H48O/c1-7-21(19(2)3)9-8-20(4)25-12-13-26-24-11-10-22-18-23(30)14-16-28(22,5)27(24)15-17-29(25,26)6/h8-10,19-21,23-27,30H,7,11-18H2,1-6H3/b9-8+/t20-,21-,23+,24+,25-,26+,27+,28+,29-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HCXVJBMSMIARIN-PHZDYDNGSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "412.69082" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "412.37052" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]1(CC[C@@]2([H])[C@]3([H])CC=C4C[C@@H](O)CC[C@]4(C)[C@@]3([H])CC[C@]12C)[C@H](C)\\C=C\\[C@@H](CC)C(C)C" xsd:string [Term] id: CHEBI:28833 name: gibberellin A3 namespace: chebi_ontology alt_id: CHEBI:24243 alt_id: CHEBI:5340 def: "A C19-gibberellin that is a pentacyclic diterpenoid responsible for promoting growth and elongation of cells in plants. Initially identified in Gibberella fujikuroi,it differs from gibberellin A1 in the presence of a double bond between C-3 and C-4." [] subset: 3_STAR synonym: "(+)-gibberellic acid" RELATED [ChEBI] synonym: "(1R,2R,5S,8S,9S,10R,11S,12S)-5,12-dihydroxy-11-methyl-6-methylidene-16-oxo-15-oxapentacyclo[9.3.2.1(5,8).0(1,10).0(2,8)]heptadec-13-ene-9-carboxylic acid" EXACT IUPAC_NAME [IUPAC] synonym: "2beta,7alpha-dihydroxy-1beta-methyl-8-methylidene-13-oxo-4a,1alpha-epoxymethano-4aalpha,4bbeta-gibb-3-ene-10beta-carboxylic acid" EXACT IUPAC_NAME [IUPAC] synonym: "GA3" RELATED [ChEBI] synonym: "gibberellic acid" RELATED [ChemIDplus] synonym: "gibberellic acid GA3" RELATED [ChemIDplus] synonym: "Gibberellin" RELATED [KEGG_COMPOUND] synonym: "gibberellin 3" RELATED [ChEBI] synonym: "Gibberellin A3" EXACT [KEGG_COMPOUND] synonym: "Gibberellinsaeure" RELATED [ChEBI] xref: AGR:IND44675921 {source="Europe PMC"} xref: Beilstein:54346 {source="Beilstein"} xref: BPDB:371 xref: CAS:77-06-5 {source="ChemIDplus"} xref: CAS:77-06-5 {source="KEGG COMPOUND"} xref: DrugBank:DB07814 xref: HMDB:HMDB0003559 xref: KEGG:C01699 xref: KNApSAcK:C00000003 xref: LIPID_MAPS_instance:LMPR0104170002 {source="LIPID MAPS"} xref: MetaCyc:GIBBERELLIN xref: PDBeChem:GA3 xref: PMID:18948165 {source="Europe PMC"} xref: PMID:19815399 {source="Europe PMC"} xref: PMID:21216576 {source="Europe PMC"} xref: PMID:22044348 {source="Europe PMC"} xref: PMID:22516192 {source="Europe PMC"} xref: PMID:23076568 {source="Europe PMC"} xref: PMID:23818834 {source="Europe PMC"} xref: PMID:23857350 {source="Europe PMC"} xref: PMID:24232845 {source="Europe PMC"} xref: Reaxys:54346 {source="Reaxys"} xref: Wikipedia:Gibberellic_acid is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:24913 ! isoprenoid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H22O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H22O6/c1-9-7-17-8-18(9,24)5-3-10(17)19-6-4-11(20)16(2,15(23)25-19)13(19)12(17)14(21)22/h4,6,10-13,20,24H,1,3,5,7-8H2,2H3,(H,21,22)/t10-,11+,12-,13-,16-,17+,18+,19-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IXORZMNAPKEEDV-OBDJNFEBSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "346.37440" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "346.14164" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12CC[C@]3(O)C[C@]1(CC3=C)[C@@H](C(O)=O)[C@]1([H])[C@@]3(C)[C@@H](O)C=C[C@@]21OC3=O" xsd:string [Term] id: CHEBI:28843 name: 5-amino-1-(5-phospho-D-ribosyl)imidazole namespace: chebi_ontology alt_id: CHEBI:12101 alt_id: CHEBI:18969 alt_id: CHEBI:2655 subset: 3_STAR synonym: "1-(5-O-phosphono-D-ribofuranosyl)-1H-imidazol-5-amine" EXACT IUPAC_NAME [IUPAC] is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:26020 ! phosphate property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H14N3O7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H14N3O7P/c9-5-1-10-3-11(5)8-7(13)6(12)4(18-8)2-17-19(14,15)16/h1,3-4,6-8,12-13H,2,9H2,(H2,14,15,16)/t4-,6-,7-,8?/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PDACUKOKVHBVHJ-ZRTZXPPTSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "295.18654" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "295.05694" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Nc1cncn1C1O[C@H](COP(O)(O)=O)[C@@H](O)[C@H]1O" xsd:string [Term] id: CHEBI:28854 name: 2,4-D namespace: chebi_ontology alt_id: CHEBI:48791 alt_id: CHEBI:73176 alt_id: CHEBI:910 def: "A chlorophenoxyacetic acid that is phenoxyacetic acid in which the ring hydrogens at postions 2 and 4 are substituted by chlorines." [] subset: 3_STAR synonym: "(2,4-dichlorophenoxy)acetic acid" EXACT IUPAC_NAME [IUPAC] synonym: "(2,4-Dichlorphenoxy)essigsaeure" RELATED [ChEBI] synonym: "2,4-D" EXACT [KEGG_COMPOUND] synonym: "2,4-D acid" RELATED [ChemIDplus] synonym: "2,4-Dichlorophenoxyacetate" RELATED [KEGG_COMPOUND] synonym: "2,4-Dichlorophenoxyacetic acid" RELATED [KEGG_COMPOUND] synonym: "2,4-Dichlorphenoxyessigsaeure" RELATED [ChEBI] synonym: "acide 2,4-dichloro phenoxyacetique" RELATED [ChemIDplus] synonym: "Hedonal" RELATED [NIST_Chemistry_WebBook] synonym: "Trinoxol" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:1214242 {source="Beilstein"} xref: CAS:94-75-7 {source="NIST Chemistry WebBook"} xref: CAS:94-75-7 {source="ChemIDplus"} xref: CAS:94-75-7 {source="KEGG COMPOUND"} xref: Gmelin:51306 {source="Gmelin"} xref: HMDB:HMDB0041797 xref: KEGG:C03664 xref: LINCS:LSM-19988 xref: MeSH:C056848 xref: MeSH:D015084 xref: MetaCyc:CPD-9009 xref: NCIt:C26311 xref: PDBeChem:CFA xref: Pesticides:2\,4-d {source="Alan Wood's Pesticides"} xref: PMID:10794133 {source="Europe PMC"} xref: PMID:11165716 {source="Europe PMC"} xref: PMID:11423340 {source="Europe PMC"} xref: PMID:11566291 {source="Europe PMC"} xref: PMID:12231832 {source="Europe PMC"} xref: PMID:15198722 {source="Europe PMC"} xref: PMID:16785163 {source="Europe PMC"} xref: PMID:17568655 {source="Europe PMC"} xref: PMID:18969687 {source="Europe PMC"} xref: PMID:6362003 {source="Europe PMC"} xref: PPDB:4 xref: Reaxys:1214242 {source="Reaxys"} xref: SNOMEDCT:18344000 xref: Wikipedia:2\,4-Dichlorophenoxyacetic_acid is_a: EFO:0004416 ! acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H6Cl2O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H6Cl2O3/c9-5-1-2-7(6(10)3-5)13-4-8(11)12/h1-3H,4H2,(H,11,12)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OVSKIKFHRZPJSS-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "221.03684" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "219.96940" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)COc1ccc(Cl)cc1Cl" xsd:string [Term] id: CHEBI:28864 name: tobramycin namespace: chebi_ontology alt_id: CHEBI:19849 alt_id: CHEBI:45933 alt_id: CHEBI:9610 def: "A amino cyclitol glycoside that is kanamycin B lacking the 3-hydroxy substituent from the 2,6-diaminoglucose ring." [] subset: 3_STAR synonym: "(1S,2S,3R,4S,6R)-4,6-diamino-3-(2,6-diamino-2,3,6-trideoxy-alpha-D-ribo-hexopyranosyloxy)-2-hydroxycyclohexyl 3-amino-3-deoxy-alpha-D-glucopyranoside" EXACT IUPAC_NAME [IUPAC] synonym: "3'-Deoxykanamycin B" RELATED [KEGG_COMPOUND] synonym: "Nebramycin 6" RELATED [ChemIDplus] synonym: "Nebramycin factir 6" RELATED [KEGG_COMPOUND] synonym: "O-3-Amino-3-deoxy-alpha-D-glucopyranosyl-(1-4)-O-(2,6-diamino-2,3,6-trideoxy-alpha-D-ribohexopyranosyl-(1-4))-2-deoxy-D-streptamine" RELATED [ChemIDplus] synonym: "Tobracin (TN)" RELATED [KEGG_DRUG] synonym: "Tobramycin" EXACT [KEGG_COMPOUND] synonym: "Tobrex (TN)" RELATED [KEGG_DRUG] xref: CAS:32986-56-4 {source="ChemIDplus"} xref: CAS:32986-56-4 {source="KEGG COMPOUND"} xref: Drug_Central:2684 {source="DrugCentral"} xref: DrugBank:DB00684 xref: KEGG:C00397 xref: KEGG:D00063 xref: LINCS:LSM-6534 xref: MeSH:D014031 xref: NCIt:C62082 xref: PDBeChem:TOY xref: PMID:11000679 {source="Europe PMC"} xref: PMID:11072877 {source="Europe PMC"} xref: PMID:11459219 {source="Europe PMC"} xref: PMID:11478352 {source="Europe PMC"} xref: PMID:14961139 {source="Europe PMC"} xref: PMID:15813341 {source="Europe PMC"} xref: PMID:16205136 {source="Europe PMC"} xref: PMID:16239129 {source="Europe PMC"} xref: PMID:16478137 {source="Europe PMC"} xref: PMID:16650821 {source="Europe PMC"} xref: PMID:17150225 {source="Europe PMC"} xref: PMID:18331849 {source="Europe PMC"} xref: PMID:19072156 {source="Europe PMC"} xref: PMID:19220547 {source="Europe PMC"} xref: PMID:19340717 {source="Europe PMC"} xref: PMID:19465435 {source="Europe PMC"} xref: PMID:20000576 {source="Europe PMC"} xref: PMID:20884302 {source="Europe PMC"} xref: PMID:20938669 {source="Europe PMC"} xref: PMID:21275493 {source="Europe PMC"} xref: PMID:21343445 {source="Europe PMC"} xref: PMID:21357290 {source="Europe PMC"} xref: PMID:21396748 {source="Europe PMC"} xref: PMID:21414310 {source="Europe PMC"} xref: PMID:21429824 {source="Europe PMC"} xref: PMID:21438171 {source="Europe PMC"} xref: PMID:21530479 {source="Europe PMC"} xref: PMID:21592592 {source="Europe PMC"} xref: PMID:21726492 {source="Europe PMC"} xref: PMID:21756818 {source="Europe PMC"} xref: PMID:21796931 {source="Europe PMC"} xref: PMID:21815282 {source="Europe PMC"} xref: Reaxys:1357507 {source="Reaxys"} xref: SNOMEDCT:373548001 xref: SNOMEDCT:89695009 xref: Wikipedia:Tobramycin is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:33281 ! antimicrobial agent relationship: has_role CHEBI:36047 ! antibacterial drug property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H37N5O9" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H37N5O9/c19-3-9-8(25)2-7(22)17(29-9)31-15-5(20)1-6(21)16(14(15)28)32-18-13(27)11(23)12(26)10(4-24)30-18/h5-18,24-28H,1-4,19-23H2/t5-,6+,7+,8-,9+,10+,11-,12+,13+,14-,15+,16-,17+,18+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NLVFBUXFDBBNBW-PBSUHMDJSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "467.51450" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "467.25913" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NC[C@H]1O[C@H](O[C@@H]2[C@@H](N)C[C@@H](N)[C@H](O[C@H]3O[C@H](CO)[C@@H](O)[C@H](N)[C@H]3O)[C@H]2O)[C@H](N)C[C@@H]1O" xsd:string [Term] id: CHEBI:28867 name: O-propanoylcarnitine namespace: chebi_ontology alt_id: CHEBI:21972 alt_id: CHEBI:7701 def: "An O-acylcarnitine compound having propanoyl as the acyl substituent." [] subset: 3_STAR synonym: "3-(propionyloxy)-4-(trimethylammonio)butanoate" EXACT IUPAC_NAME [IUPAC] synonym: "3-Carboxy-N,N,N-trimethyl-2-(1-oxopropoxy)-1-propanaminium inner salt" RELATED [ChemIDplus] synonym: "O-Propanoylcarnitine" EXACT [KEGG_COMPOUND] synonym: "O-Propionylcarnitine" RELATED [KEGG_COMPOUND] synonym: "Propionyl carnitine" RELATED [ChemIDplus] synonym: "Propionylcarnitine" RELATED [ChemIDplus] xref: Beilstein:4137829 {source="Beilstein"} xref: HMDB:HMDB0000824 xref: KEGG:C03017 xref: PMID:22770225 {source="Europe PMC"} xref: Reaxys:4137829 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H19NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H19NO4/c1-5-10(14)15-8(6-9(12)13)7-11(2,3)4/h8H,5-7H2,1-4H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UFAHZIUFPNSHSL-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "217.26220" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "217.13141" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCC(=O)OC(CC([O-])=O)C[N+](C)(C)C" xsd:string [Term] id: CHEBI:28874 name: phosphatidylinositol namespace: chebi_ontology alt_id: CHEBI:18877 alt_id: CHEBI:494 def: "Any glycerophosphoinositol having one phosphatidyl group esterified to one of the hydroxy groups of inositol." [] subset: 3_STAR synonym: "phosphatidylinositols" RELATED [ChEBI] synonym: "PI" RELATED [ChEBI] synonym: "PtdIns" RELATED [ChEBI] xref: DrugBank:DB02144 xref: PMID:15634688 {source="Europe PMC"} xref: PMID:15967713 {source="Europe PMC"} xref: PMID:17417879 {source="Europe PMC"} xref: PMID:18189424 {source="Europe PMC"} xref: PMID:19456874 {source="Europe PMC"} xref: PMID:23015060 {source="Europe PMC"} xref: PMID:23118092 {source="Europe PMC"} xref: Wikipedia:Phosphatidylinositol is_a: CHEBI:16247 ! phospholipid [Term] id: CHEBI:28885 name: butan-1-ol namespace: chebi_ontology alt_id: CHEBI:22936 alt_id: CHEBI:39632 alt_id: CHEBI:612 def: "A primary alcohol that is butane in which a hydrogen of one of the methyl groups is substituted by a hydroxy group. It it produced in small amounts in humans by the gut microbes." [] subset: 3_STAR synonym: "1-BUTANOL" RELATED [PDBeChem] synonym: "1-Butanol" RELATED [KEGG_COMPOUND] synonym: "1-butyl alcohol" RELATED [NIST_Chemistry_WebBook] synonym: "1-hydroxybutane" RELATED [NIST_Chemistry_WebBook] synonym: "BuOH" RELATED [IUPAC] synonym: "butan-1-ol" EXACT IUPAC_NAME [IUPAC] synonym: "butan-1-ol" EXACT [UniProt] synonym: "n-butan-1-ol" RELATED [NIST_Chemistry_WebBook] synonym: "n-Butanol" RELATED [KEGG_COMPOUND] synonym: "n-butyl alcohol" RELATED [ChemIDplus] synonym: "n-Butylalkohol" RELATED [ChEBI] synonym: "propyl carbinol" RELATED [ChemIDplus] xref: Beilstein:969148 {source="Beilstein"} xref: CAS:71-36-3 {source="NIST Chemistry WebBook"} xref: CAS:71-36-3 {source="ChemIDplus"} xref: DrugBank:DB02145 xref: Gmelin:25753 {source="Gmelin"} xref: HMDB:HMDB0004327 xref: KEGG:C06142 xref: KEGG:D03200 xref: MetaCyc:BUTANOL xref: PDBeChem:1BO xref: PMID:23980702 {source="Europe PMC"} xref: PMID:7096503 {source="Europe PMC"} xref: PPDB:1309 xref: Reaxys:969148 {source="Reaxys"} xref: Wikipedia:N-Butanol is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H10O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H10O/c1-2-3-4-5/h5H,2-4H2,1H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LRHPLDYGYMQRHN-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "74.12160" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "74.07316" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCO" xsd:string [Term] id: CHEBI:28924 name: 3-aminophenol namespace: chebi_ontology alt_id: CHEBI:10585 alt_id: CHEBI:19965 def: "An aminophenol that is one of three amino derivatives of phenol which has the single amino substituent located meta to the phenolic -OH group." [] subset: 3_STAR synonym: "3-Aminophenol" EXACT [KEGG_COMPOUND] synonym: "3-aminophenol" EXACT IUPAC_NAME [IUPAC] synonym: "m-Aminophenol" RELATED [KEGG_COMPOUND] synonym: "m-hydroxyaniline" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:636059 {source="Beilstein"} xref: CAS:591-27-5 {source="KEGG COMPOUND"} xref: CAS:591-27-5 {source="NIST Chemistry WebBook"} xref: CAS:591-27-5 {source="ChemIDplus"} xref: Gmelin:2913 {source="Gmelin"} xref: KEGG:C05058 xref: PMID:1395635 {source="Europe PMC"} xref: PMID:21399792 {source="Europe PMC"} xref: Reaxys:636059 {source="Reaxys"} xref: Wikipedia:3-Aminophenol is_a: CHEBI:33853 ! phenols property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H7NO" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H7NO/c7-5-2-1-3-6(8)4-5/h1-4,8H,7H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CWLKGDAVCFYWJK-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "109.12592" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "109.05276" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Nc1cccc(O)c1" xsd:string [Term] id: CHEBI:28938 name: ammonium namespace: chebi_ontology alt_id: CHEBI:22534 alt_id: CHEBI:49783 alt_id: CHEBI:7435 def: "An onium cation obtained by protonation of ammonia." [] subset: 3_STAR synonym: "[NH4](+)" RELATED [MolBase] synonym: "ammonium" EXACT IUPAC_NAME [IUPAC] synonym: "ammonium" EXACT [ChEBI] synonym: "ammonium cation" RELATED [ChemIDplus] synonym: "ammonium ion" RELATED [PDBeChem] synonym: "Ammonium(1+)" RELATED [ChemIDplus] synonym: "azanium" EXACT IUPAC_NAME [IUPAC] synonym: "NH4(+)" RELATED [UniProt] synonym: "NH4(+)" RELATED [IUPAC] synonym: "NH4+" RELATED [KEGG_COMPOUND] xref: CAS:14798-03-9 {source="NIST Chemistry WebBook"} xref: CAS:14798-03-9 {source="ChemIDplus"} xref: Gmelin:84 {source="Gmelin"} xref: KEGG:C01342 xref: MetaCyc:AMMONIUM xref: MolBase:929 xref: PDBeChem:NH4 xref: PMID:11319011 {source="Europe PMC"} xref: PMID:11341317 {source="Europe PMC"} xref: PMID:12096804 {source="Europe PMC"} xref: PMID:14512268 {source="Europe PMC"} xref: PMID:14879753 {source="Europe PMC"} xref: PMID:16345391 {source="Europe PMC"} xref: PMID:16903292 {source="Europe PMC"} xref: PMID:17392693 {source="Europe PMC"} xref: PMID:18515490 {source="Europe PMC"} xref: PMID:19199063 {source="Europe PMC"} xref: PMID:19596600 {source="Europe PMC"} xref: PMID:19682559 {source="Europe PMC"} xref: PMID:19716251 {source="Europe PMC"} xref: PMID:21993530 {source="Europe PMC"} xref: PMID:22265469 {source="Europe PMC"} xref: PMID:22524020 {source="Europe PMC"} xref: PMID:22562341 {source="Europe PMC"} xref: PMID:22631217 {source="Europe PMC"} xref: Reaxys:16093784 {source="Reaxys"} xref: Wikipedia:Ammonium is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "+1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "H4N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/H3N/h1H3/p+1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QGZKDVFQNNGYKY-UHFFFAOYSA-O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "18.03850" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "18.03383" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][N+]([H])([H])[H]" xsd:string [Term] id: CHEBI:28939 name: N-acetyl-L-cysteine namespace: chebi_ontology alt_id: CHEBI:21548 alt_id: CHEBI:2418 alt_id: CHEBI:45481 def: "An N-acetyl-L-amino acid that is the N-acetylated derivative of the natural amino acid L-cysteine." [] subset: 3_STAR synonym: "(2R)-2-acetylamino-3-sulfanylpropanoic acid" RELATED [IUPAC] synonym: "(R)-2-acetylamino-3-mercaptopropanoic acid" RELATED [ChEBI] synonym: "(R)-mercapturic acid" RELATED [ChemIDplus] synonym: "acetilcisteina" RELATED INN [ChemIDplus] synonym: "Acetylcysteine" RELATED [KEGG_COMPOUND] synonym: "acetylcysteinum" RELATED INN [ChemIDplus] synonym: "L-acetylcysteine" RELATED [ChemIDplus] synonym: "L-alpha-acetamido-beta-mercaptopropionic acid" RELATED [NIST_Chemistry_WebBook] synonym: "mercapturic acid" RELATED [ChemIDplus] synonym: "N-acetyl-L-(+)-cysteine" RELATED [NIST_Chemistry_WebBook] synonym: "N-ACETYL-L-CYSTEINE" EXACT [PDBeChem] synonym: "N-acetyl-L-cysteine" EXACT IUPAC_NAME [IUPAC] synonym: "N-acetylcysteine" RELATED [ChemIDplus] synonym: "NAC" RELATED [ChEBI] xref: Beilstein:1724426 {source="Beilstein"} xref: CAS:616-91-1 {source="ChemIDplus"} xref: CAS:616-91-1 {source="KEGG COMPOUND"} xref: CAS:616-91-1 {source="NIST Chemistry WebBook"} xref: Drug_Central:66 {source="DrugCentral"} xref: DrugBank:DB06151 xref: Gmelin:142554 {source="Gmelin"} xref: HMDB:HMDB0001890 xref: KEGG:C06809 xref: KEGG:D00221 xref: LINCS:LSM-4672 xref: MeSH:D000111 xref: MetaCyc:CPD-9175 xref: NCIt:C200 xref: PDBeChem:SC2 xref: PMID:10651166 {source="Europe PMC"} xref: PMID:11544433 {source="Europe PMC"} xref: PMID:12057717 {source="Europe PMC"} xref: PMID:15025780 {source="Europe PMC"} xref: PMID:15647642 {source="Europe PMC"} xref: PMID:17174578 {source="Europe PMC"} xref: PMID:19580823 {source="Europe PMC"} xref: PMID:2026726 {source="Europe PMC"} xref: PMID:20819793 {source="Europe PMC"} xref: PMID:24119926 {source="Europe PMC"} xref: PMID:25553484 {source="Europe PMC"} xref: PMID:9624310 {source="Europe PMC"} xref: PMID:9711192 {source="Europe PMC"} xref: Reaxys:1724426 {source="Reaxys"} xref: SNOMEDCT:387440002 xref: SNOMEDCT:77731008 xref: Wikipedia:Acetylcysteine is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:22586 ! antioxidant relationship: has_role CHEBI:22587 ! antiviral agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H9NO3S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H9NO3S/c1-3(7)6-4(2-10)5(8)9/h4,10H,2H2,1H3,(H,6,7)(H,8,9)/t4-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PWKSKIMOESPYIA-BYPYZUCNSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "163.19590" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "163.03031" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(=O)N[C@@H](CS)C(O)=O" xsd:string [Term] id: CHEBI:28940 name: calciol namespace: chebi_ontology alt_id: CHEBI:10008 alt_id: CHEBI:23170 alt_id: CHEBI:46283 def: "A hydroxy seco-steroid that is (5Z,7E)-9,10-secocholesta-5,7,10(19)-triene in which the pro-S hydrogen at position 3 has been replaced by a hydroxy group. It is the inactive form of vitamin D3, being hydroxylated in the liver to calcidiol (25-hydroxyvitamin D3), which is then further hydroxylated in the kidney to give calcitriol (1,25-dihydroxyvitamin D3), the active hormone." [] subset: 3_STAR synonym: "(+)-vitamin D3" RELATED [NIST_Chemistry_WebBook] synonym: "(1S,3Z)-3-[(2E)-2-[(1R,3AR,7AS)-7A-METHYL-1-[(2R)-6-METHYLHEPTAN-2-YL]-2,3,3A,5,6,7-HEXAHYDRO-1H-INDEN-4-YLIDENE]ETHYLIDENE]-4-METHYLIDENE-CYCLOHEXAN-1-OL" RELATED [PDBeChem] synonym: "(3beta,5Z,7E)-9,10-secocholesta-5,7,10(19)-trien-3-ol" RELATED [NIST_Chemistry_WebBook] synonym: "(3S,5Z,7E)-9,10-secocholesta-5,7,10(19)-trien-3-ol" EXACT IUPAC_NAME [IUPAC] synonym: "(5Z,7E)-(3S)-9,10-secocholesta-5,7,10(19)-trien-3-ol" RELATED [JCBN] synonym: "activated 7-dehydrocholesterol" RELATED [ChemIDplus] synonym: "calciol" EXACT [JCBN] synonym: "calciol" EXACT [UniProt] synonym: "CC" RELATED [ChemIDplus] synonym: "Cholecalciferol" RELATED [KEGG_COMPOUND] synonym: "colecalciferol" RELATED [ChemIDplus] synonym: "Delta-D" RELATED BRAND_NAME [KEGG_DRUG] synonym: "oleovitamin D3" RELATED [NIST_Chemistry_WebBook] synonym: "Vitamin D3" RELATED [KEGG_COMPOUND] synonym: "Vitamin D3" RELATED [LIPID_MAPS] synonym: "vitamin D3" RELATED [ChEBI] xref: Beilstein:2339331 {source="Beilstein"} xref: CAS:67-97-0 {source="ChemIDplus"} xref: CAS:67-97-0 {source="NIST Chemistry WebBook"} xref: CAS:67-97-0 {source="KEGG COMPOUND"} xref: Drug_Central:2840 {source="DrugCentral"} xref: DrugBank:DB00169 xref: Gmelin:1267613 {source="Gmelin"} xref: HMDB:HMDB0000876 xref: KEGG:C05443 xref: KEGG:D00188 xref: LIPID_MAPS_instance:LMST03020000 {source="LIPID MAPS"} xref: LIPID_MAPS_instance:LMST03020001 {source="LIPID MAPS"} xref: MeSH:D002762 xref: NCIt:C48194 xref: PDBeChem:VD3 xref: PMID:10347174 {source="Europe PMC"} xref: PMID:11493580 {source="Europe PMC"} xref: PMID:12174089 {source="Europe PMC"} xref: PMID:12955389 {source="Europe PMC"} xref: PMID:15214747 {source="Europe PMC"} xref: PMID:15876428 {source="Europe PMC"} xref: PMID:16886665 {source="Europe PMC"} xref: PMID:17156784 {source="Europe PMC"} xref: PMID:184223 {source="Europe PMC"} xref: PMID:19817701 {source="Europe PMC"} xref: PMID:23964472 {source="Europe PMC"} xref: PMID:24304198 {source="Europe PMC"} xref: PMID:2838261 {source="Europe PMC"} xref: PMID:2997282 {source="Europe PMC"} xref: PMID:3494111 {source="Europe PMC"} xref: PMID:6265326 {source="Europe PMC"} xref: PMID:9627702 {source="Europe PMC"} xref: PPDB:160 xref: Reaxys:2339331 {source="Reaxys"} xref: SNOMEDCT:18414002 xref: Wikipedia:Cholecalciferol is_a: CHEBI:26764 ! steroid hormone is_a: CHEBI:27300 ! vitamin D relationship: has_role CHEBI:33229 ! vitamin (role) property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C27H44O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C27H44O/c1-19(2)8-6-9-21(4)25-15-16-26-22(10-7-17-27(25,26)5)12-13-23-18-24(28)14-11-20(23)3/h12-13,19,21,24-26,28H,3,6-11,14-18H2,1-2,4-5H3/b22-12+,23-13-/t21-,24+,25-,26+,27-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QYSXJUFSXHHAJI-YRZJJWOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "384.63766" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "384.33922" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]1(CC[C@]2([H])[C@]1(C)CCC\\C2=C/C=C1/C[C@@H](O)CCC1=C)[C@H](C)CCCC(C)C" xsd:string [Term] id: CHEBI:28946 name: theobromine namespace: chebi_ontology alt_id: CHEBI:26939 alt_id: CHEBI:39914 alt_id: CHEBI:9521 def: "A dimethylxanthine having the two methyl groups located at positions 3 and 7. A purine alkaloid derived from the cacao plant, it is found in chocolate, as well as in a number of other foods, and is a vasodilator, diuretic and heart stimulator." [] subset: 3_STAR synonym: "3,7-dihydro-3,7-dimethyl-1H-purine-2,6-dione" RELATED [NIST_Chemistry_WebBook] synonym: "3,7-dimethyl-3,7-dihydro-1H-purine-2,6-dione" EXACT IUPAC_NAME [IUPAC] synonym: "3,7-dimethylpurine-2,6-dione" RELATED [DrugBank] synonym: "3,7-Dimethylxanthine" RELATED [KEGG_COMPOUND] synonym: "3,7-dimethylxanthine" RELATED [ChEBI] synonym: "Theobromin" RELATED [ChEBI] synonym: "THEOBROMINE" EXACT [PDBeChem] synonym: "Theobromine" EXACT [KEGG_COMPOUND] synonym: "theobromine" EXACT [ChEBI] synonym: "theobromine" EXACT [UniProt] xref: Beilstein:16464 {source="Beilstein"} xref: CAS:83-67-0 {source="ChemIDplus"} xref: CAS:83-67-0 {source="KEGG COMPOUND"} xref: CAS:83-67-0 {source="NIST Chemistry WebBook"} xref: Drug_Central:2618 {source="DrugCentral"} xref: DrugBank:DB01412 xref: Gmelin:143367 {source="Gmelin"} xref: HMDB:HMDB0002825 xref: KEGG:C07480 xref: KNApSAcK:C00001509 xref: LINCS:LSM-5483 xref: MetaCyc:3-7-DIMETHYLXANTHINE xref: PDBeChem:37T xref: PMID:10456233 {source="Europe PMC"} xref: PMID:11600064 {source="Europe PMC"} xref: PMID:16979558 {source="Europe PMC"} xref: PMID:18632476 {source="Europe PMC"} xref: PMID:18964243 {source="Europe PMC"} xref: PMID:19018565 {source="Europe PMC"} xref: PMID:21839757 {source="Europe PMC"} xref: PMID:21871761 {source="Europe PMC"} xref: PMID:22751681 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: PMID:22824731 {source="Europe PMC"} xref: PMID:22866022 {source="Europe PMC"} xref: PMID:23094271 {source="Europe PMC"} xref: PMID:23236361 {source="Europe PMC"} xref: PMID:28166217 {source="Europe PMC"} xref: PMID:9468592 {source="Europe PMC"} xref: Reaxys:16464 {source="Reaxys"} xref: Wikipedia:Theobromine is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H8N4O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H8N4O2/c1-10-3-8-5-4(10)6(12)9-7(13)11(5)2/h3H,1-2H3,(H,9,12,13)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YAPQBXQYLJRXSA-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "180.16418" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "180.06473" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cn1cnc2n(C)c(=O)[nH]c(=O)c12" xsd:string [Term] id: CHEBI:28971 name: ampicillin namespace: chebi_ontology alt_id: CHEBI:22536 alt_id: CHEBI:2683 alt_id: CHEBI:40648 alt_id: CHEBI:45042 def: "A penicillin in which the substituent at position 6 of the penam ring is a 2-amino-2-phenylacetamido group." [] subset: 3_STAR synonym: "(2S,5R,6R)-6-{[(2R)-2-amino-2-phenylacetyl]amino}-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylic acid" RELATED [IUPAC] synonym: "(2S,5R,6R)-6-{[(2R)-2-AMINO-2-PHENYLETHANOYL]AMINO}-3,3-DIMETHYL-7-OXO-4-THIA-1-AZABICYCLO[3.2.0]HEPTANE-2-CARBOXYLIC ACID" RELATED [PDBeChem] synonym: "(2S,6R)-6-{[(2R)-2-amino-2-phenylethanoyl]amino}-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylic acid" RELATED [PDBeChem] synonym: "6-(D-(2-amino-2-phenylacetamido))-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo(3.2.0)heptane-2-carboxylic acid" RELATED [ChemIDplus] synonym: "6beta-[(2R)-2-amino-2-phenylacetamido]-2,2-dimethylpenam-3alpha-carboxylic acid" EXACT IUPAC_NAME [IUPAC] synonym: "ABPC" RELATED [ChEBI] synonym: "aminobenzylpenicillin" RELATED [DrugBank] synonym: "AMP" RELATED [ChEBI] synonym: "ampicilina" RELATED INN [ChemIDplus] synonym: "Ampicillin" EXACT [KEGG_COMPOUND] synonym: "ampicillin" RELATED INN [ChemIDplus] synonym: "ampicillin acid" RELATED [DrugBank] synonym: "ampicillin anhydrous" RELATED [DrugBank] synonym: "ampicilline" RELATED INN [ChemIDplus] synonym: "ampicillinum" RELATED INN [ChemIDplus] synonym: "Anhydrous ampicillin" RELATED [KEGG_COMPOUND] synonym: "AP" RELATED [ChEBI] synonym: "D-(-)-6-(alpha-aminophenylacetamido)penicillanic acid" RELATED [ChemIDplus] synonym: "D-(-)-ampicillin" RELATED [ChemIDplus] xref: Beilstein:4300240 {source="Beilstein"} xref: CAS:69-53-4 {source="ChemIDplus"} xref: Drug_Central:198 {source="DrugCentral"} xref: DrugBank:DB00415 xref: HMDB:HMDB0014559 xref: KEGG:C06574 xref: KEGG:D00204 xref: LINCS:LSM-5761 xref: Patent:GB902703 xref: Patent:US2985648 xref: Patent:US3157640 xref: PDB:1H8S xref: PDBeChem:AIC xref: PDBeChem:PN1 xref: PMID:10930630 {source="Europe PMC"} xref: PMID:12562703 {source="Europe PMC"} xref: PMID:12569987 {source="Europe PMC"} xref: PMID:12833570 {source="Europe PMC"} xref: PMID:14139119 {source="Europe PMC"} xref: PMID:14455820 {source="Europe PMC"} xref: PMID:15768449 {source="Europe PMC"} xref: PMID:16033609 {source="Europe PMC"} xref: PMID:18611716 {source="Europe PMC"} xref: PMID:19967069 {source="Europe PMC"} xref: PMID:2083978 {source="Europe PMC"} xref: PMID:23568176 {source="Europe PMC"} xref: PMID:23861268 {source="Europe PMC"} xref: PMID:24474427 {source="Europe PMC"} xref: PMID:24666465 {source="Europe PMC"} xref: PMID:25998949 {source="Europe PMC"} xref: PMID:28543395 {source="Europe PMC"} xref: PMID:29017833 {source="Europe PMC"} xref: PMID:6176550 {source="Europe PMC"} xref: PMID:8020088 {source="Europe PMC"} xref: PMID:9433938 {source="Europe PMC"} xref: Reaxys:4300240 {source="Reaxys"} xref: VSDB:1849 xref: Wikipedia:Ampicillin is_a: CHEBI:35627 ! beta-lactam property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C16H19N3O4S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C16H19N3O4S/c1-16(2)11(15(22)23)19-13(21)10(14(19)24-16)18-12(20)9(17)8-6-4-3-5-7-8/h3-7,9-11,14H,17H2,1-2H3,(H,18,20)(H,22,23)/t9-,10-,11+,14-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "AVKUERGKIZMTKX-NJBDSQKTSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "349.40500" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "349.10963" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]12SC(C)(C)[C@@H](N1C(=O)[C@H]2NC(=O)[C@H](N)c1ccccc1)C(O)=O" xsd:string [Term] id: CHEBI:28984 name: aluminium atom namespace: chebi_ontology alt_id: CHEBI:22471 alt_id: CHEBI:2616 subset: 3_STAR synonym: "13Al" RELATED [IUPAC] synonym: "Al" RELATED [KEGG_COMPOUND] synonym: "Al" RELATED [IUPAC] synonym: "aluminio" RELATED [ChEBI] synonym: "Aluminium" RELATED [ChEBI] synonym: "Aluminium" RELATED [KEGG_COMPOUND] synonym: "aluminium" EXACT IUPAC_NAME [IUPAC] synonym: "aluminium" RELATED [ChEBI] synonym: "aluminum" RELATED [NIST_Chemistry_WebBook] xref: CAS:7429-90-5 {source="KEGG COMPOUND"} xref: CAS:7429-90-5 {source="ChemIDplus"} xref: DrugBank:DB01370 xref: Gmelin:16248 {source="Gmelin"} xref: KEGG:C06264 xref: MeSH:D000535 xref: NCIt:C93162 xref: SNOMEDCT:12503006 xref: WebElements:Al is_a: CHEBI:33250 ! atom property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "Al" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/Al" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XAGFODPZIPBFFR-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "26.98154" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "26.98154" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Al]" xsd:string [Term] id: CHEBI:29007 name: ceftriaxone namespace: chebi_ontology alt_id: CHEBI:23059 alt_id: CHEBI:3513 alt_id: CHEBI:446214 def: "A third-generation cephalosporin compound having 2-(2-amino-1,3-thiazol-4-yl)-2-(methoxyimino)acetylamino and [(2-methyl-5,6-dioxo-1,2,5,6-tetrahydro-1,2,4-triazin-3-yl)sulfanyl]methyl side-groups." [] subset: 3_STAR synonym: "(6R,7R)-7-{[(2Z)-2-(2-amino-1,3-thiazol-4-yl)-2-(methoxyimino)acetyl]amino}-3-{[(2-methyl-5,6-dioxo-1,2,5,6-tetrahydro-1,2,4-triazin-3-yl)sulfanyl]methyl}-8-oxo-5-thia-1-azabicyclo[4.2.0]oct-2-ene-2-carboxylic acid" RELATED [IUPAC] synonym: "7beta-{[(2Z)-2-(2-amino-1,3-thiazol-4-yl)-2-(methoxyimino)acetyl]amino}-3-{[(2-methyl-5,6-dioxo-1,2,5,6-tetrahydro-1,2,4-triazin-3-yl)sulfanyl]methyl}-3,4-didehydrocepham-4-carboxylic acid" EXACT IUPAC_NAME [IUPAC] synonym: "ceftriaxona" RELATED INN [ChemIDplus] synonym: "ceftriaxone" RELATED INN [KEGG_DRUG] synonym: "ceftriaxonum" RELATED INN [ChemIDplus] synonym: "rocephin" RELATED [ChEBI] xref: Beilstein:6495519 {source="Beilstein"} xref: CAS:73384-59-5 {source="ChemIDplus"} xref: CAS:73384-59-5 {source="KEGG COMPOUND"} xref: CAS:73384-59-5 {source="KEGG DRUG"} xref: Drug_Central:564 {source="DrugCentral"} xref: DrugBank:DB01212 xref: HMDB:HMDB0015343 xref: KEGG:C06683 xref: KEGG:D07659 xref: MeSH:D002443 xref: MetaCyc:CPD-12294 xref: NCIt:C62020 xref: Patent:GB2022090 xref: Patent:US4327210 xref: PMID:11067716 {source="Europe PMC"} xref: PMID:11285492 {source="Europe PMC"} xref: PMID:11431418 {source="Europe PMC"} xref: PMID:11432680 {source="Europe PMC"} xref: PMID:11529382 {source="Europe PMC"} xref: PMID:11605716 {source="Europe PMC"} xref: PMID:11642230 {source="Europe PMC"} xref: PMID:11760218 {source="Europe PMC"} xref: PMID:11815759 {source="Europe PMC"} xref: PMID:11856984 {source="Europe PMC"} xref: PMID:11875753 {source="Europe PMC"} xref: PMID:11985490 {source="Europe PMC"} xref: PMID:12146884 {source="Europe PMC"} xref: PMID:12426628 {source="Europe PMC"} xref: PMID:12569987 {source="Europe PMC"} xref: PMID:12711894 {source="Europe PMC"} xref: PMID:12797390 {source="Europe PMC"} xref: PMID:12830336 {source="Europe PMC"} xref: PMID:12833570 {source="Europe PMC"} xref: PMID:12868545 {source="Europe PMC"} xref: PMID:1384868 {source="Europe PMC"} xref: PMID:15091234 {source="Europe PMC"} xref: PMID:15106316 {source="Europe PMC"} xref: PMID:15225244 {source="Europe PMC"} xref: PMID:15499067 {source="Europe PMC"} xref: PMID:15828439 {source="Europe PMC"} xref: PMID:15846537 {source="Europe PMC"} xref: PMID:15880392 {source="Europe PMC"} xref: PMID:15886468 {source="Europe PMC"} xref: PMID:16082406 {source="Europe PMC"} xref: PMID:16118675 {source="Europe PMC"} xref: PMID:16161754 {source="Europe PMC"} xref: PMID:16185184 {source="Europe PMC"} xref: PMID:16602117 {source="Europe PMC"} xref: PMID:16640341 {source="ChEMBL"} xref: PMID:16734965 {source="Europe PMC"} xref: PMID:17129840 {source="Europe PMC"} xref: PMID:17173674 {source="Europe PMC"} xref: PMID:17216959 {source="Europe PMC"} xref: PMID:17226043 {source="Europe PMC"} xref: PMID:17347554 {source="Europe PMC"} xref: PMID:17367972 {source="Europe PMC"} xref: PMID:17592517 {source="Europe PMC"} xref: PMID:18246742 {source="Europe PMC"} xref: PMID:18473104 {source="Europe PMC"} xref: PMID:18484523 {source="Europe PMC"} xref: PMID:18611641 {source="Europe PMC"} xref: PMID:18676229 {source="Europe PMC"} xref: PMID:18773080 {source="Europe PMC"} xref: PMID:18977704 {source="Europe PMC"} xref: PMID:19008722 {source="Europe PMC"} xref: PMID:19367098 {source="Europe PMC"} xref: PMID:19423473 {source="Europe PMC"} xref: PMID:19496200 {source="Europe PMC"} xref: PMID:19625514 {source="Europe PMC"} xref: PMID:19649758 {source="Europe PMC"} xref: PMID:21425867 {source="Europe PMC"} xref: PMID:29017833 {source="Europe PMC"} xref: Reaxys:6495519 {source="Reaxys"} xref: SNOMEDCT:19841008 xref: SNOMEDCT:372670001 xref: Wikipedia:Ceftriaxone is_a: CHEBI:35627 ! beta-lactam relationship: has_role CHEBI:33281 ! antimicrobial agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H18N8O7S3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H18N8O7S3/c1-25-18(22-12(28)13(29)23-25)36-4-6-3-34-15-9(14(30)26(15)10(6)16(31)32)21-11(27)8(24-33-2)7-5-35-17(19)20-7/h5,9,15H,3-4H2,1-2H3,(H2,19,20)(H,21,27)(H,23,29)(H,31,32)/b24-8-/t9-,15-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VAAUVRVFOQPIGI-SPQHTLEESA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "554.58000" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "554.04606" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]12SCC(CSc3nc(=O)c(=O)[nH]n3C)=C(N1C(=O)[C@H]2NC(=O)C(=N/OC)\\c1csc(N)n1)C(O)=O" xsd:string [Term] id: CHEBI:29022 name: N-benzyladenine namespace: chebi_ontology alt_id: CHEBI:2173 alt_id: CHEBI:21881 alt_id: CHEBI:42414 def: "A member of the class of 6-aminopurines that is adenine in which one of the hydrogens of the amino group is replaced by a benzyl group." [] subset: 3_STAR synonym: "6-(benzylamino)purine" RELATED [NIST_Chemistry_WebBook] synonym: "6-[(phenylmethyl)amino]-9H-purine" RELATED [NIST_Chemistry_WebBook] synonym: "6-BAP" RELATED [ChemIDplus] synonym: "6-Benzylaminopurine" RELATED [KEGG_COMPOUND] synonym: "BAP" RELATED [ChemIDplus] synonym: "benzyladenine" RELATED [ChemIDplus] synonym: "Cytokinin B" RELATED [ChemIDplus] synonym: "N(6)-(benzylamino)purine" RELATED [ChemIDplus] synonym: "N-BENZYL-9H-PURIN-6-AMINE" RELATED [PDBeChem] synonym: "N-benzyl-9H-purin-6-amine" EXACT IUPAC_NAME [IUPAC] synonym: "N-Benzyladenine" EXACT [KEGG_COMPOUND] synonym: "N6-Benzyladenine" RELATED [KEGG_COMPOUND] xref: Beilstein:616790 {source="Beilstein"} xref: BPDB:1324 xref: CAS:1214-39-7 {source="NIST Chemistry WebBook"} xref: CAS:1214-39-7 {source="ChemIDplus"} xref: CAS:1214-39-7 {source="KEGG COMPOUND"} xref: ChEMBL:485067 xref: ChemIDplus:1214-39-7 xref: Gmelin:145502 {source="Gmelin"} xref: HMDB:HMDB0039238 xref: KEGG COMPOUND:1214-39-7 xref: KEGG COMPOUND:C11263 xref: KEGG:C11263 xref: KNApSAcK:C00000092 xref: LINCS:LSM-3396 xref: MeSH:C000142 xref: MetaCyc:CPD-4604 xref: NIST Chemistry WebBook:1214-39-7 xref: PDBeChem:EMU xref: PMID:16691305 {source="Europe PMC"} xref: PMID:23043692 {source="Europe PMC"} xref: PMID:24579378 {source="Europe PMC"} xref: Reaxys:616790 {source="Reaxys"} xref: Wikipedia:6-Benzylaminopurine is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:35703 ! xenobiotic relationship: has_role EFO:0001824 ! hormone role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12H11N5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C12H11N5/c1-2-4-9(5-3-1)6-13-11-10-12(15-7-14-10)17-8-16-11/h1-5,7-8H,6H2,(H2,13,14,15,16,17)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NWBJYWHLCVSVIJ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "225.24944" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "225.10145" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(Nc1ncnc2[nH]cnc12)c1ccccc1" xsd:string [Term] id: CHEBI:2904 name: atenolol namespace: chebi_ontology def: "An ethanolamine compound having a (4-carbamoylmethylphenoxy)methyl group at the 1-position and an N-isopropyl substituent." [] subset: 3_STAR synonym: "1-p-Carbamoylmethylphenoxy-3-isopropylamino-2-propanol" RELATED [NIST_Chemistry_WebBook] synonym: "2-(4-{2-hydroxy-3-[(propan-2-yl)amino]propoxy}phenyl)acetamide" EXACT IUPAC_NAME [IUPAC] synonym: "2-(p-(2-Hydroxy-3-(isopropylamino)propoxy)phenyl)acetamide" RELATED [ChemIDplus] synonym: "4-(2-Hydroxy-3-((1-methylethyl)amino)propoxy)benzeneacetamide" RELATED [ChemIDplus] synonym: "atenolol" RELATED INN [KEGG_DRUG] synonym: "atenololum" RELATED INN [ChemIDplus] xref: Beilstein:2739235 {source="Beilstein"} xref: CAS:29122-68-7 {source="ChemIDplus"} xref: CAS:29122-68-7 {source="DrugBank"} xref: CAS:29122-68-7 {source="NIST Chemistry WebBook"} xref: CAS:29122-68-7 {source="KEGG DRUG"} xref: Drug_Central:255 {source="DrugCentral"} xref: DrugBank:DB00335 xref: Gmelin:2179742 {source="Gmelin"} xref: HMDB:HMDB0001924 xref: KEGG:D00235 xref: LINCS:LSM-4355 xref: Patent:DE2007751 xref: Patent:US3663607 xref: Patent:US3836671 xref: PMID:23581644 {source="Europe PMC"} xref: PMID:9813739 {source="Europe PMC"} xref: Reaxys:2739235 {source="Reaxys"} xref: VSDB:2965 xref: Wikipedia:Atenolol is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C14H22N2O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C14H22N2O3/c1-10(2)16-8-12(17)9-19-13-5-3-11(4-6-13)7-14(15)18/h3-6,10,12,16-17H,7-9H2,1-2H3,(H2,15,18)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "METKIMKYRPQLGS-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "266.33610" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "266.16304" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)NCC(O)COc1ccc(CC(N)=O)cc1" xsd:string [Term] id: CHEBI:29073 name: L-ascorbic acid namespace: chebi_ontology alt_id: CHEBI:21240 alt_id: CHEBI:2868 alt_id: CHEBI:40892 alt_id: CHEBI:43473 def: "The L-enantiomer of ascorbic acid and conjugate acid of L-ascorbate." [] subset: 3_STAR synonym: "(5R)-5-[(1S)-1,2-dihydroxyethyl]-3,4-dihydroxyfuran-2(5H)-one" EXACT IUPAC_NAME [IUPAC] synonym: "acide ascorbique" RELATED INN [ChemIDplus] synonym: "acido ascorbico" RELATED INN [ChemIDplus] synonym: "acidum ascorbicum" RELATED INN [ChemIDplus] synonym: "acidum ascorbinicum" RELATED [ChemIDplus] synonym: "Ascoltin" RELATED BRAND_NAME [KEGG_DRUG] synonym: "ASCORBIC ACID" RELATED [PDBeChem] synonym: "Ascorbic acid" RELATED [KEGG_COMPOUND] synonym: "ascorbic acid" RELATED INN [KEGG_DRUG] synonym: "Ascorbicap" RELATED [KEGG_DRUG] synonym: "Ascorbinsaeure" RELATED [ChEBI] synonym: "E 300" RELATED [ChEBI] synonym: "E-300" RELATED [ChEBI] synonym: "E300" RELATED [ChEBI] synonym: "L-(+)-ascorbic acid" RELATED [NIST_Chemistry_WebBook] synonym: "L-Ascorbate" RELATED [KEGG_COMPOUND] synonym: "L-Ascorbic acid" EXACT [KEGG_COMPOUND] synonym: "L-threo-hex-2-enono-1,4-lactone" EXACT IUPAC_NAME [IUPAC] synonym: "Vitamin C" RELATED [KEGG_COMPOUND] xref: Beilstein:84272 {source="Beilstein"} xref: BPDB:2405 xref: CAS:50-81-7 {source="KEGG COMPOUND"} xref: CAS:50-81-7 {source="ChemIDplus"} xref: CAS:50-81-7 {source="NIST Chemistry WebBook"} xref: Drug_Central:4072 {source="DrugCentral"} xref: DrugBank:DB00126 xref: Gmelin:4087 {source="Gmelin"} xref: HMDB:HMDB0000044 xref: KEGG:C00072 xref: KEGG:D00018 xref: KNApSAcK:C00001179 xref: MeSH:D001205 xref: MetaCyc:ASCORBATE xref: NCIt:C285 xref: NCIt:C68507 xref: PDBeChem:ASC xref: PMID:10799361 {source="Europe PMC"} xref: PMID:12180551 {source="Europe PMC"} xref: PMID:12569111 {source="Europe PMC"} xref: PMID:15917019 {source="Europe PMC"} xref: PMID:15925292 {source="Europe PMC"} xref: PMID:15949874 {source="Europe PMC"} xref: PMID:16425787 {source="Europe PMC"} xref: PMID:16522902 {source="Europe PMC"} xref: PMID:16611389 {source="Europe PMC"} xref: PMID:16725131 {source="Europe PMC"} xref: PMID:17253561 {source="Europe PMC"} xref: PMID:17623524 {source="Europe PMC"} xref: PMID:17636648 {source="Europe PMC"} xref: PMID:18813862 {source="Europe PMC"} xref: PMID:19273781 {source="Europe PMC"} xref: PMID:19580823 {source="Europe PMC"} xref: PMID:19692922 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: PMID:3015170 {source="Europe PMC"} xref: PMID:491997 {source="Europe PMC"} xref: PMID:5477017 {source="Europe PMC"} xref: PMID:7711198 {source="Europe PMC"} xref: PMID:8467348 {source="Europe PMC"} xref: PMID:8726814 {source="Europe PMC"} xref: PMID:9506998 {source="Europe PMC"} xref: Reaxys:84272 {source="Reaxys"} xref: SNOMEDCT:43706004 xref: Wikipedia:Ascorbic_Acid is_a: CHEBI:16646 ! carbohydrate is_a: CHEBI:24532 ! organic heterocyclic compound is_a: EFO:0004416 ! acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H8O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H8O6/c7-1-2(8)5-3(9)4(10)6(11)12-5/h2,5,7-10H,1H2/t2-,5+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CIWBSHSKHKDKBQ-JLAZNSOCSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "176.12410" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "176.03209" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]1(OC(=O)C(O)=C1O)[C@@H](O)CO" xsd:string [Term] id: CHEBI:29108 name: calcium(2+) namespace: chebi_ontology alt_id: CHEBI:22988 alt_id: CHEBI:3308 alt_id: CHEBI:48760 subset: 3_STAR synonym: "Ca(2+)" RELATED [IUPAC] synonym: "Ca(2+)" RELATED [UniProt] synonym: "Ca2+" RELATED [KEGG_COMPOUND] synonym: "CALCIUM ION" RELATED [PDBeChem] synonym: "calcium(2+)" EXACT IUPAC_NAME [IUPAC] synonym: "calcium(2+) ion" EXACT IUPAC_NAME [IUPAC] synonym: "calcium(II) cation" EXACT IUPAC_NAME [IUPAC] synonym: "calcium, doubly charged positive ion" RELATED [NIST_Chemistry_WebBook] xref: CAS:14127-61-8 {source="ChemIDplus"} xref: CAS:14127-61-8 {source="NIST Chemistry WebBook"} xref: Gmelin:6850 {source="Gmelin"} xref: KEGG:C00076 xref: PDBeChem:CA is_a: CHEBI:24867 ! monoatomic ion property_value: http://purl.obolibrary.org/obo/chebi/charge "+2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "Ca" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/Ca/q+2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BHPQYMZQTOCNFJ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "40.07800" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "39.96149" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Ca++]" xsd:string [Term] id: CHEBI:29321 name: sodium nitroprusside namespace: chebi_ontology def: "An organic sodium salt that is the disodium salt of nitroprusside." [] subset: 3_STAR synonym: "disodium pentacyanidonitrosylferrate" RELATED [IUPAC] synonym: "Na2[Fe(CN)5(NO)]" RELATED [IUPAC] synonym: "Sodium nitroprusside anhydrous" RELATED [ChemIDplus] synonym: "sodium pentacyanidonitrosylferrate(2-)" EXACT IUPAC_NAME [IUPAC] synonym: "sodium pentacyanidonitrosylferrate(III)" EXACT IUPAC_NAME [IUPAC] xref: CAS:14402-89-2 {source="ChemIDplus"} xref: PMID:25425768 {source="Europe PMC"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5FeN6Na2O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/5CN.Fe.NO.2Na/c5*1-2;;1-2;;/q;;;;;2*-1;2*+1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FPWUWQVZUNFZQM-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "261.91788" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "261.92783" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Na+].[Na+].O=N[Fe--](C#N)(C#N)(C#N)(C#N)C#N" xsd:string [Term] id: CHEBI:29365 name: phosgene namespace: chebi_ontology def: "An acyl chloride obtained by substitution of both hydrogens of formaldehyde by chlorine." [] subset: 3_STAR synonym: "Carbon dichloride oxide" RELATED [ChemIDplus] synonym: "Carbon dichloride oxide" RELATED [NIST_Chemistry_WebBook] synonym: "Carbon oxychloride" RELATED [ChemIDplus] synonym: "Carbone (oxychlorure de)" RELATED [ChemIDplus] synonym: "Carbonic acid dichloride" RELATED [ChemIDplus] synonym: "Carbonic chloride" RELATED [ChemIDplus] synonym: "Carbonic dichloride" RELATED [ChemIDplus] synonym: "Carbonyl chloride" RELATED [ChemIDplus] synonym: "Carbonyl dichloride" RELATED [ChemIDplus] synonym: "carbonyl dichloride" EXACT IUPAC_NAME [IUPAC] synonym: "Carbonylchlorid" RELATED [ChemIDplus] synonym: "Chloroformyl chloride" RELATED [ChemIDplus] synonym: "COCl2" RELATED [IUPAC] synonym: "Dichloroformaldehyde" RELATED [NIST_Chemistry_WebBook] synonym: "Fosgeen" RELATED [ChemIDplus] synonym: "Fosgen" RELATED [ChemIDplus] synonym: "Phosgen" RELATED [ChemIDplus] synonym: "phosgene" EXACT IUPAC_NAME [IUPAC] xref: CAS:75-44-5 {source="ChemIDplus"} xref: CAS:75-44-5 {source="NIST Chemistry WebBook"} xref: PMID:21031186 {source="Europe PMC"} xref: PMID:21222562 {source="Europe PMC"} xref: PMID:21293301 {source="Europe PMC"} xref: PMID:21309662 {source="Europe PMC"} xref: Reaxys:1098367 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "CCl2O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/CCl2O/c2-1(3)4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YGYAWVDWMABLBF-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "98.91550" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "97.93262" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "ClC(Cl)=O" xsd:string [Term] id: CHEBI:29371 name: dioxygen(2+) namespace: chebi_ontology subset: 3_STAR synonym: "[O2](2+)" RELATED [ChEBI] synonym: "dioxidanebis(ylium)" RELATED [IUPAC] synonym: "dioxygen(2+)" EXACT IUPAC_NAME [IUPAC] synonym: "O2(2+)" RELATED [IUPAC] xref: Gmelin:48980 {source="Gmelin"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "+2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/O2/c1-2/q+2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NIWXMCONPJOXBL-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "31.99880" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "31.98873" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O+]#[O+]" xsd:string [Term] id: CHEBI:2948 name: azathioprine namespace: chebi_ontology def: "A thiopurine that is 6-mercaptopurine in which the mercapto hydrogen is replaced by a 1-methyl-4-nitroimidazol-5-yl group. It is a prodrug for mercaptopurine and is used as an immunosuppressant, prescribed for the treatment of inflammatory conditions and after organ transplantation and also for treatment of Crohn's didease and MS." [] subset: 3_STAR synonym: "6-((1-Methyl-4-nitro-1H-imidazol-5-yl)thio)-1H-purine" RELATED [ChemIDplus] synonym: "6-(1'-Methyl-4'-nitro-5'-imidazolyl)-mercaptopurine" RELATED [ChemIDplus] synonym: "6-[(1-methyl-4-nitro-1H-imidazol-5-yl)sulfanyl]-7H-purine" EXACT IUPAC_NAME [IUPAC] synonym: "Imuran (TN)" RELATED [KEGG_DRUG] xref: CAS:446-86-6 {source="KEGG DRUG"} xref: CAS:446-86-6 {source="ChemIDplus"} xref: ChEMBL:531141 xref: ChemIDplus:446-86-6 xref: Drug_Central:269 {source="DrugCentral"} xref: DrugBank:DB00993 xref: KEGG DRUG:446-86-6 xref: KEGG DRUG:D00238 xref: KEGG:C06837 xref: KEGG:D00238 xref: MeSH:D001379 xref: NCIt:C290 xref: PMID:11064448 {source="Europe PMC"} xref: PMID:15199672 {source="Europe PMC"} xref: PMID:15476481 {source="Europe PMC"} xref: PMID:15628319 {source="Europe PMC"} xref: PMID:15973722 {source="Europe PMC"} xref: PMID:16344342 {source="Europe PMC"} xref: PMID:16397313 {source="Europe PMC"} xref: PMID:16764353 {source="Europe PMC"} xref: PMID:16954801 {source="Europe PMC"} xref: PMID:17381669 {source="Europe PMC"} xref: PMID:17970886 {source="Europe PMC"} xref: PMID:18008354 {source="Europe PMC"} xref: PMID:18336531 {source="Europe PMC"} xref: PMID:19243907 {source="Europe PMC"} xref: PMID:20080917 {source="Europe PMC"} xref: PMID:25248004 {source="Europe PMC"} xref: PMID:25314066 {source="Europe PMC"} xref: PMID:25440430 {source="Europe PMC"} xref: PMID:25443086 {source="Europe PMC"} xref: PMID:25581826 {source="Europe PMC"} xref: PMID:25641386 {source="Europe PMC"} xref: PMID:28166217 {source="Europe PMC"} xref: PMID:8738760 {source="Europe PMC"} xref: PMID:9273463 {source="Europe PMC"} xref: PMID:9345422 {source="Europe PMC"} xref: Reaxys:1225351 {source="Reaxys"} xref: SNOMEDCT:111165009 xref: SNOMEDCT:372574004 xref: Wikipedia:Azathioprine is_a: CHEBI:35666 ! thiopurine relationship: has_role CHEBI:35221 ! antimetabolite relationship: has_role CHEBI:35610 ! antineoplastic agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H7N7O2S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H7N7O2S/c1-15-4-14-7(16(17)18)9(15)19-8-5-6(11-2-10-5)12-3-13-8/h2-4H,1H3,(H,10,11,12,13)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LMEKQMALGUDUQG-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "277.26386" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "277.03819" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cn1cnc(c1Sc1ncnc2nc[nH]c12)[N+]([O-])=O" xsd:string [Term] id: CHEBI:2955 name: azithromycin namespace: chebi_ontology alt_id: CHEBI:46596 def: "A macrolide antibiotic useful for the treatment of bacterial infections." [] subset: 3_STAR synonym: "(2R,3S,4R,5R,8R,10R,11R,12S,13S,14R)-2-ethyl-3,4,10-trihydroxy-3,5,6,8,10,12,14-heptamethyl-15-oxo-11-{[3,4,6-trideoxy-3-(dimethylamino)-beta-D-xylo-hexopyranosyl]oxy}-1-oxa-6-azacyclopentadecan-13-yl 2,6-dideoxy-3-C-methyl-3-O-methyl-alpha-L-ribo-hexopyranoside" EXACT IUPAC_NAME [IUPAC] synonym: "(2R,3S,4R,5R,8R,10R,11R,12S,13S,14R)13-((2,6-Dideoxy-3-C-methyl-3-O-methyl-alpha-L-ribo-hexopyranosyl)oxy)-2-ethyl-3,4,10-trihydroxy-3,5,6,8,10,12,14-heptamethyl-11-((3,4,6-trideoxy-3-(dimethylamino)-beta-D-xylo-hexopyranosyl)oxy)-1-oxa-6-azacyclopentadecan-15-one" RELATED [ChemIDplus] synonym: "Azenil" RELATED BRAND_NAME [DrugBank] synonym: "Azifast" RELATED BRAND_NAME [ChEBI] synonym: "Azigram" RELATED BRAND_NAME [ChEBI] synonym: "Azimakrol" RELATED BRAND_NAME [ChEBI] synonym: "azithromycine" RELATED INN [ChemIDplus] synonym: "azithromycinum" RELATED INN [ChemIDplus] synonym: "azitromicina" RELATED INN [WHO_MedNet] synonym: "Azitromin" RELATED BRAND_NAME [ChEBI] synonym: "Hemomycin" RELATED BRAND_NAME [DrugBank] synonym: "Zithromax" RELATED BRAND_NAME [DrugBank] synonym: "Zmax" RELATED BRAND_NAME [DrugBank] xref: Beilstein:5387583 {source="Beilstein"} xref: CAS:83905-01-5 {source="ChemIDplus"} xref: Drug_Central:276 {source="DrugCentral"} xref: DrugBank:DB00207 xref: HMDB:HMDB0014352 xref: KEGG:C06838 xref: KEGG:D07486 xref: LINCS:LSM-5821 xref: MeSH:D017963 xref: NCIt:C28844 xref: Patent:BE892357 xref: Patent:US4517359 xref: PDBeChem:ZIT xref: PMID:15143799 {source="Europe PMC"} xref: PMID:18253999 {source="Europe PMC"} xref: Reaxys:5387583 {source="Reaxys"} xref: Reaxys:8820027 {source="Reaxys"} xref: SNOMEDCT:387531004 xref: SNOMEDCT:96034006 xref: Wikipedia:Azithromycin is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:33281 ! antimicrobial agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C38H72N2O12" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C38H72N2O12/c1-15-27-38(10,46)31(42)24(6)40(13)19-20(2)17-36(8,45)33(52-35-29(41)26(39(11)12)16-21(3)48-35)22(4)30(23(5)34(44)50-27)51-28-18-37(9,47-14)32(43)25(7)49-28/h20-33,35,41-43,45-46H,15-19H2,1-14H3/t20-,21-,22+,23-,24-,25+,26+,27-,28+,29-,30+,31-,32+,33-,35+,36-,37-,38-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "MQTOSJVFKKJCRP-BICOPXKESA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "748.98450" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "748.50853" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC[C@H]1OC(=O)[C@H](C)[C@@H](O[C@H]2C[C@@](C)(OC)[C@@H](O)[C@H](C)O2)[C@H](C)[C@@H](O[C@@H]2O[C@H](C)C[C@@H]([C@H]2O)N(C)C)[C@](C)(O)C[C@@H](C)CN(C)[C@H](C)[C@@H](O)[C@]1(C)O" xsd:string [Term] id: CHEBI:295975 name: choline phosphate(1-) namespace: chebi_ontology def: "The organophosphate oxoanion formed from choline by removal of two protons from the phosphate group. Major species at pH 7.3." [] subset: 3_STAR synonym: "2-(trimethylammonio)ethyl phosphate" RELATED [IUPAC] synonym: "2-(trimethylazaniumyl)ethyl phosphate" EXACT IUPAC_NAME [IUPAC] synonym: "phosphocholine" RELATED [UniProt] xref: PMID:9357523 {source="ChEMBL"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H13NO4P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H14NO4P/c1-6(2,3)4-5-10-11(7,8)9/h4-5H2,1-3H3,(H-,7,8,9)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YHHSONZFOIEMCP-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "182.13480" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "182.05877" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[N+](C)(C)CCOP([O-])([O-])=O" xsd:string [Term] id: CHEBI:29655 name: neocarzinostatin chromophore namespace: chebi_ontology alt_id: CHEBI:41563 def: "A naphthoate ester obtained by formal condensation of the carboxy group of 2-hydroxy-7-methoxy-5-methyl-1-naphthoic acid with the 5-hydroxy group of (1aS,5R,6R,6aE,9aR)-5-hydroxy-1a-[(4R)-2-oxo-1,3-dioxolan-4-yl]-2,3,8,9-tetradehydro-1a,5,6,9a-tetrahydrocyclopenta[5,6]cyclonona[1,2-b]oxiren-6-yl 2,6-dideoxy-2-(methylamino)-alpha-D-galactopyranoside. The chromophoric part of neocarzinostatin, it is tightly and non-covelently bound to a 113-membered apoprotein, which serves to protect it and release it to the target DNA." [] subset: 3_STAR synonym: "(1aS,5R,6R,6aE,9aR)-6-{[2,6-dideoxy-2-(methylamino)-alpha-D-galactopyranosyl]oxy}-1a-[(4R)-2-oxo-1,3-dioxolan-4-yl]-2,3,8,9-tetradehydro-1a,5,6,9a-tetrahydrocyclopenta[5,6]cyclonona[1,2-b]oxiren-5-yl 2-hydroxy-7-methoxy-5-methyl-1-naphthoate" EXACT IUPAC_NAME [IUPAC] synonym: "Ncs-chrom" RELATED [ChemIDplus] synonym: "Neocarzinostatin chromophore" EXACT [KEGG_COMPOUND] xref: CAS:81604-85-5 {source="ChemIDplus"} xref: CAS:81604-85-5 {source="KEGG COMPOUND"} xref: ChemIDplus:81604-85-5 xref: CiteXplore:11735421 xref: CiteXplore:11916399 xref: CiteXplore:11955061 xref: CiteXplore:16546380 xref: CiteXplore:20336247 xref: CiteXplore:20735485 xref: CiteXplore:2524463 xref: CiteXplore:2976601 xref: CiteXplore:6220205 xref: CiteXplore:6223633 xref: CiteXplore:7582949 xref: CiteXplore:7582957 xref: CiteXplore:8362243 xref: CiteXplore:8466903 xref: Drug_Central:4108 {source="DrugCentral"} xref: KEGG COMPOUND:81604-85-5 xref: KEGG COMPOUND:C12049 xref: KEGG:C12049 xref: MeSH:C032372 xref: PDBeChem:CHR xref: PMID:11735421 {source="Europe PMC"} xref: PMID:11916399 {source="Europe PMC"} xref: PMID:11955061 {source="Europe PMC"} xref: PMID:16546380 {source="Europe PMC"} xref: PMID:20336247 {source="Europe PMC"} xref: PMID:20735485 {source="Europe PMC"} xref: PMID:2524463 {source="Europe PMC"} xref: PMID:2976601 {source="Europe PMC"} xref: PMID:6220205 {source="Europe PMC"} xref: PMID:6223633 {source="Europe PMC"} xref: PMID:7582949 {source="Europe PMC"} xref: PMID:7582957 {source="Europe PMC"} xref: PMID:8362243 {source="Europe PMC"} xref: PMID:8466903 {source="Europe PMC"} xref: Reaxys:4224827 {source="Reaxys"} xref: Wikipedia:Neocarzinostatin is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:35610 ! antineoplastic agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C35H33NO12" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C35H33NO12/c1-16-12-19(42-4)14-22-20(16)8-9-23(37)27(22)32(40)45-24-13-18-10-11-35(26-15-43-34(41)46-26)25(48-35)7-5-6-21(18)31(24)47-33-28(36-3)30(39)29(38)17(2)44-33/h6,8-9,12-14,17,24-26,28-31,33,36-39H,15H2,1-4H3/b21-6+/t17-,24-,25-,26-,28-,29+,30-,31-,33-,35+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QZGIWPZCWHMVQL-UIYAJPBUSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "659.63600" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "659.20028" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN[C@@H]1[C@@H](O)[C@@H](O)[C@@H](C)O[C@@H]1O[C@H]1[C@H](OC(=O)c2c(O)ccc3c(C)cc(OC)cc23)C=C2C#C[C@@]3(O[C@@H]3C#C/C=C1\\2)[C@H]1COC(=O)O1" xsd:string [Term] id: CHEBI:29678 name: sodium arsenite namespace: chebi_ontology def: "An inoganic sodium salt with formula with formula NaAsO2." [] subset: 3_STAR synonym: "(NaAsO2)n" RELATED [ChEBI] synonym: "catena-poly[(oxidoarsenate-mu-oxido)]sodium" EXACT IUPAC_NAME [IUPAC] synonym: "Na(+)n-(-As(O(-))O-)-n" RELATED [ChEBI] synonym: "NaAsO2" RELATED [ChEBI] synonym: "Sodium arsenite" EXACT [KEGG_COMPOUND] synonym: "Sodium dioxoarsenate" RELATED [KEGG_COMPOUND] synonym: "sodium meta-arsenite" RELATED [ChEBI] synonym: "sodium metaarsenite" RELATED [ChemIDplus] xref: CAS:7784-46-5 {source="KEGG COMPOUND"} xref: CAS:7784-46-5 {source="ChemIDplus"} xref: KEGG:C11906 xref: MetaCyc:CPD0-1496 xref: PMID:17070520 {source="Europe PMC"} xref: PMID:19131511 {source="Europe PMC"} xref: PMID:20423156 {source="Europe PMC"} xref: PMID:20598115 {source="Europe PMC"} xref: PMID:23194016 {source="Europe PMC"} xref: PMID:23694735 {source="Europe PMC"} xref: PMID:24004876 {source="Europe PMC"} xref: PMID:24100277 {source="Europe PMC"} xref: PMID:24519527 {source="Europe PMC"} xref: PMID:9580875 {source="Europe PMC"} xref: PMID:9649501 {source="Europe PMC"} xref: PPDB:2877 xref: Reaxys:14201303 {source="Reaxys"} xref: Reaxys:16472677 {source="Reaxys"} xref: Wikipedia:Sodium_arsenite is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "AsNaO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/AsHO2.Na/c2-1-3;/h(H,2,3);/q;+1/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PTLRDCMBXHILCL-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "129.91020" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "129.90119" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Na+].[O-][As]=O" xsd:string [Term] id: CHEBI:29693 name: thiostrepton namespace: chebi_ontology def: "A heterodetic cyclic peptide, in which the cyclisation step involves a formal lactonisation between the carboxy group of a quinaldic acid-based residue and a secondary alcohol. An antibiotic that inhibits bacterial protein synthesis. Also acts as an antitumor agent." [] subset: 3_STAR synonym: "Thiostrepton" EXACT [KEGG_COMPOUND] xref: CAS:1393-48-2 {source="KEGG COMPOUND"} xref: CAS:1393-48-2 {source="ChemIDplus"} xref: ChemIDplus:1393-48-2 xref: CiteXplore:16076225 xref: CiteXplore:21107477 xref: CiteXplore:21323347 xref: CiteXplore:21365012 xref: CiteXplore:21620902 xref: CiteXplore:21860463 xref: CiteXplore:21903609 xref: CiteXplore:21908407 xref: CiteXplore:22049175 xref: CiteXplore:22108865 xref: CiteXplore:22271891 xref: CiteXplore:22321511 xref: CiteXplore:22353937 xref: CiteXplore:22357874 xref: CiteXplore:22391527 xref: KEGG COMPOUND:1393-48-2 xref: KEGG COMPOUND:C12054 xref: KEGG DRUG:D06111 xref: KEGG:C12054 xref: KEGG:D06111 xref: KNApSAcK:C00000753 xref: MeSH:D013883 xref: PMID:16076225 {source="Europe PMC"} xref: PMID:21107477 {source="Europe PMC"} xref: PMID:21323347 {source="Europe PMC"} xref: PMID:21365012 {source="Europe PMC"} xref: PMID:21620902 {source="Europe PMC"} xref: PMID:21860463 {source="Europe PMC"} xref: PMID:21903609 {source="Europe PMC"} xref: PMID:21908407 {source="Europe PMC"} xref: PMID:22049175 {source="Europe PMC"} xref: PMID:22108865 {source="Europe PMC"} xref: PMID:22271891 {source="Europe PMC"} xref: PMID:22321511 {source="Europe PMC"} xref: PMID:22353937 {source="Europe PMC"} xref: PMID:22357874 {source="Europe PMC"} xref: PMID:22391527 {source="Europe PMC"} xref: Reaxys:7390758 {source="Reaxys"} xref: SNOMEDCT:96017003 xref: VSDB:3007 xref: Wikipedia:Thiostrepton is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:36047 ! antibacterial drug property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C72H85N19O18S5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C72H85N19O18S5/c1-14-26(3)47-63(105)78-30(7)57(99)75-28(5)56(98)76-31(8)58(100)91-72-19-18-40(66-85-43(22-111-66)59(101)77-29(6)55(97)74-27(4)54(73)96)81-52(72)42-21-112-67(83-42)49(34(11)109-69(107)41-20-37(32(9)92)36-16-17-39(79-47)51(95)50(36)80-41)89-60(102)44-24-113-68(86-44)53(71(13,108)35(12)94)90-62(104)45-23-110-65(84-45)38(15-2)82-64(106)48(33(10)93)88-61(103)46-25-114-70(72)87-46/h15-17,20-22,24-26,30-35,39,45,47-49,51-53,79,92-95,108H,4-6,14,18-19,23H2,1-3,7-13H3,(H2,73,96)(H,74,97)(H,75,99)(H,76,98)(H,77,101)(H,78,105)(H,82,106)(H,88,103)(H,89,102)(H,90,104)(H,91,100)/b38-15-/t26-,30-,31-,32-,33+,34+,35+,39+,45+,47-,48-,49-,51-,52+,53+,71+,72+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NSFFHOGKXHRQEW-AIHSUZKVSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "1664.88700" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "1663.49235" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]12N=C(CC[C@@]11NC(=O)[C@H](C)NC(=O)C(=C)NC(=O)[C@H](C)NC(=O)[C@@H](N[C@@H]3C=Cc4c(cc(nc4[C@H]3O)C(=O)O[C@H](C)[C@H](NC(=O)c3csc(n3)[C@@H](NC(=O)[C@H]3CSC(=N3)\\C(NC(=O)[C@@H](NC(=O)c3csc1n3)[C@@H](C)O)=C\\C)[C@](C)(O)[C@@H](C)O)c1nc2cs1)[C@H](C)O)[C@@H](C)CC)c1nc(cs1)C(=O)NC(=C)C(=O)NC(=C)C(N)=O" xsd:string [Term] id: CHEBI:29699 name: tunicamycin namespace: chebi_ontology def: "A mixture of antiviral nucleoside antibiotics produced by Streptomyces lysosuperificus. It contains at least 10 homologues comprising uracil, N-acetylglucosamine, an 11-carbon aminodialdose called tunicamine, and a fatty acid linked to the amino group of the tunicamine. The homologues vary in the composition of the fatty acid moiety." [] subset: 3_STAR synonym: "Tunicamycin" EXACT [KEGG_COMPOUND] xref: CAS:11089-65-9 {source="ChemIDplus"} xref: CAS:11089-65-9 {source="KEGG COMPOUND"} xref: ChemIDplus:11089-65-9 xref: CiteXplore:11478581 xref: CiteXplore:11514096 xref: CiteXplore:11732194 xref: CiteXplore:11798249 xref: CiteXplore:12093793 xref: CiteXplore:12106388 xref: CiteXplore:12136966 xref: CiteXplore:12232600 xref: CiteXplore:12232799 xref: CiteXplore:12515321 xref: CiteXplore:160437 xref: CiteXplore:1624425 xref: CiteXplore:3018444 xref: CiteXplore:315774 xref: CiteXplore:4624615 xref: CiteXplore:4630978 xref: CiteXplore:5103138 xref: CiteXplore:5103535 xref: CiteXplore:5168706 xref: CiteXplore:6153524 xref: CiteXplore:6813319 xref: CiteXplore:6975776 xref: CiteXplore:6992777 xref: CiteXplore:701277 xref: CiteXplore:7142115 xref: CiteXplore:7144800 xref: CiteXplore:7766032 xref: KEGG COMPOUND:11089-65-9 xref: KEGG COMPOUND:C12063 xref: KEGG:C12063 xref: MeSH:D014415 xref: PMID:11478581 {source="Europe PMC"} xref: PMID:11514096 {source="Europe PMC"} xref: PMID:11732194 {source="Europe PMC"} xref: PMID:11798249 {source="Europe PMC"} xref: PMID:12093793 {source="Europe PMC"} xref: PMID:12106388 {source="Europe PMC"} xref: PMID:12136966 {source="Europe PMC"} xref: PMID:12232600 {source="Europe PMC"} xref: PMID:12232799 {source="Europe PMC"} xref: PMID:12515321 {source="Europe PMC"} xref: PMID:160437 {source="Europe PMC"} xref: PMID:1624425 {source="Europe PMC"} xref: PMID:3018444 {source="Europe PMC"} xref: PMID:315774 {source="Europe PMC"} xref: PMID:34700340 {source="Europe PMC"} xref: PMID:34979291 {source="Europe PMC"} xref: PMID:35233582 {source="Europe PMC"} xref: PMID:35370192 {source="Europe PMC"} xref: PMID:4624615 {source="Europe PMC"} xref: PMID:4630978 {source="Europe PMC"} xref: PMID:5103138 {source="Europe PMC"} xref: PMID:5103535 {source="Europe PMC"} xref: PMID:5168706 {source="Europe PMC"} xref: PMID:6153524 {source="Europe PMC"} xref: PMID:6813319 {source="Europe PMC"} xref: PMID:6975776 {source="Europe PMC"} xref: PMID:6992777 {source="Europe PMC"} xref: PMID:701277 {source="Europe PMC"} xref: PMID:7142115 {source="Europe PMC"} xref: PMID:7144800 {source="Europe PMC"} xref: PMID:7766032 {source="Europe PMC"} xref: Wikipedia:Tunicamycin is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:33281 ! antimicrobial agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C25H38N4O16" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "650.587" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "650.22828" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](O)(C[C@H]1O[C@@H](OC2O[C@H]([*]O)[C@@H](O)[C@H](O)[C@H]2NC(C)=O)[C@H](NC([*])=O)[C@@H](O)[C@H]1O)[C@@]1([H])O[C@H]([C@H](O)[C@@H]1O)n1ccc(=O)[nH]c1=O" xsd:string [Term] id: CHEBI:29746 name: glycocholate namespace: chebi_ontology alt_id: CHEBI:14345 alt_id: CHEBI:24377 alt_id: CHEBI:58235 def: "A cholanic acid conjugate anion that is the conjugate base of glycocholic acid, obtained by deprotonation of the carboxy group; major species at pH 7.3." [] subset: 3_STAR synonym: "glycocholate" EXACT [UniProt] synonym: "N-(3alpha,7alpha,12alpha-trihydroxy-5beta-cholan-24-oyl)glycinate" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:3739464 {source="Beilstein"} xref: DrugBank:DB02691 xref: KEGG:C01921 xref: Reaxys:3739464 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C26H42NO6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C26H43NO6/c1-14(4-7-22(31)27-13-23(32)33)17-5-6-18-24-19(12-21(30)26(17,18)3)25(2)9-8-16(28)10-15(25)11-20(24)29/h14-21,24,28-30H,4-13H2,1-3H3,(H,27,31)(H,32,33)/p-1/t14-,15+,16-,17-,18+,19+,20-,21+,24+,25+,26-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RFDAIACWWDREDC-FRVQLJSFSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "464.61482" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "464.30176" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12C[C@H](O)CC[C@]1(C)[C@@]1([H])C[C@H](O)[C@]3(C)[C@]([H])(CC[C@@]3([H])[C@]1([H])[C@H](O)C2)[C@H](C)CCC(=O)NCC([O-])=O" xsd:string [Term] id: CHEBI:29747 name: cholate namespace: chebi_ontology alt_id: CHEBI:11895 alt_id: CHEBI:13978 alt_id: CHEBI:20216 alt_id: CHEBI:23168 alt_id: CHEBI:57748 def: "A bile acid anion that is the conjugate base of cholic acid." [] subset: 3_STAR synonym: "3alpha,7alpha,12alpha-trihydroxy-5beta-cholan-24-oate" EXACT IUPAC_NAME [IUPAC] synonym: "3alpha,7alpha,12alpha-trihydroxy-5beta-cholanate" RELATED [ChEBI] synonym: "cholate" EXACT [UniProt] xref: Beilstein:3915750 {source="Beilstein"} xref: Reaxys:3915750 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C24H39O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C24H40O5/c1-13(4-7-21(28)29)16-5-6-17-22-18(12-20(27)24(16,17)3)23(2)9-8-15(25)10-14(23)11-19(22)26/h13-20,22,25-27H,4-12H2,1-3H3,(H,28,29)/p-1/t13-,14+,15-,16-,17+,18+,19-,20+,22+,23+,24-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BHQCQFFYRZLCQQ-OELDTZBJSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "407.56346" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "407.28030" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12C[C@H](O)CC[C@]1(C)[C@@]1([H])C[C@H](O)[C@]3(C)[C@]([H])(CC[C@@]3([H])[C@]1([H])[C@H](O)C2)[C@H](C)CCC([O-])=O" xsd:string [Term] id: CHEBI:29806 name: fumarate(2-) namespace: chebi_ontology alt_id: CHEBI:14284 alt_id: CHEBI:24122 alt_id: CHEBI:42511 def: "A C4-dicarboxylate that is the E-isomer of but-2-enedioate(2-)" [] subset: 3_STAR synonym: "(2E)-but-2-enedioate" EXACT IUPAC_NAME [IUPAC] synonym: "(2E)-but-2-enedioate" RELATED [ChEBI] synonym: "(E)-2-butenedioic acid, ion(2-)" RELATED [ChemIDplus] synonym: "FUMARATE" RELATED [PDBeChem] synonym: "fumarate" RELATED [UniProt] xref: Beilstein:1861276 {source="Beilstein"} xref: CAS:142-42-7 {source="ChemIDplus"} xref: DrugBank:DB01677 xref: Gmelin:325288 {source="Gmelin"} xref: KEGG:C00122 xref: MetaCyc:FUM xref: PDBeChem:FUM xref: PMID:15618158 {source="Europe PMC"} xref: PMID:16857679 {source="Europe PMC"} xref: PMID:17190852 {source="Europe PMC"} xref: PMID:22052553 {source="Europe PMC"} xref: PMID:22405071 {source="Europe PMC"} xref: Reaxys:1861276 {source="Reaxys"} xref: UM-BBD_compID:c0111 {source="UM-BBD"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H2O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H4O4/c5-3(6)1-2-4(7)8/h1-2H,(H,5,6)(H,7,8)/p-2/b2-1+" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VZCYOOQTPOCHFL-OWOJBTEDSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "114.05628" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "113.99641" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-]C(=O)\\C=C\\C([O-])=O" xsd:string [Term] id: CHEBI:2981 name: baicalin namespace: chebi_ontology def: "The glycosyloxyflavone which is the 7-O-glucuronide of baicalein. It is an active ingredient of Chinese herbal medicine Scutellaria baicalensis." [] subset: 3_STAR synonym: "5,6,7-trihydroxyflavone 7-O-beta-D-glucuronide" RELATED [ChEBI] synonym: "5,6-dihydroxy-4-oxo-2-phenyl-4H-1-benzopyran-7-yl beta-D-glucopyranosiduronic acid" RELATED [ChemIDplus] synonym: "5,6-dihydroxy-4-oxo-2-phenyl-4H-chromen-7-yl beta-D-glucopyranosiduronic acid" EXACT IUPAC_NAME [IUPAC] synonym: "7-D-glucuronic acid-5,6-dihydroxyflavone" RELATED [ChemIDplus] synonym: "baicalein 7-glucuronide" RELATED [KNApSAcK] synonym: "baicalein 7-O-glucuronide" RELATED [KEGG_COMPOUND] synonym: "Baicalin" EXACT [KEGG_COMPOUND] xref: Beilstein:70480 {source="Beilstein"} xref: CAS:21967-41-9 {source="ChemIDplus"} xref: CAS:21967-41-9 {source="KEGG COMPOUND"} xref: Drug_Central:4055 {source="DrugCentral"} xref: HMDB:HMDB0041832 xref: KEGG:C10025 xref: KNApSAcK:C00001024 xref: LIPID_MAPS_instance:LMPK12111081 {source="LIPID MAPS"} xref: MetaCyc:CPD-12725 xref: Patent:CN102584918 xref: Patent:WO2012119458 xref: PDBeChem:0XE xref: PMCID:PMC8165801 {source="Europe PMC"} xref: PMID:10724177 {source="Europe PMC"} xref: PMID:18650094 {source="Europe PMC"} xref: PMID:21087019 {source="Europe PMC"} xref: PMID:22467027 {source="Europe PMC"} xref: PMID:23142347 {source="Europe PMC"} xref: PMID:23302221 {source="Europe PMC"} xref: PMID:23354080 {source="Europe PMC"} xref: PMID:23523628 {source="Europe PMC"} xref: PMID:25847243 {source="Europe PMC"} xref: PMID:32707128 {source="Europe PMC"} xref: PMID:32795339 {source="Europe PMC"} xref: PMID:33008383 {source="Europe PMC"} xref: PMID:33224035 {source="Europe PMC"} xref: PMID:33269624 {source="Europe PMC"} xref: PMID:33352232 {source="Europe PMC"} xref: PMID:33493657 {source="Europe PMC"} xref: PMID:33595821 {source="Europe PMC"} xref: PMID:33652818 {source="Europe PMC"} xref: PMID:33732310 {source="Europe PMC"} xref: PMID:33781030 {source="Europe PMC"} xref: PMID:33801847 {source="Europe PMC"} xref: PMID:33815110 {source="Europe PMC"} xref: PMID:33891262 {source="Europe PMC"} xref: PMID:33921971 {source="Europe PMC"} xref: PMID:33923637 {source="Europe PMC"} xref: PMID:33935719 {source="Europe PMC"} xref: PMID:33955315 {source="Europe PMC"} xref: PMID:33992597 {source="Europe PMC"} xref: PMID:34029124 {source="Europe PMC"} xref: PMID:34044073 {source="Europe PMC"} xref: PMID:34053448 {source="Europe PMC"} xref: Reaxys:70480 {source="Reaxys"} xref: Wikipedia:Baicalin is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C21H18O11" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C21H18O11/c22-9-6-10(8-4-2-1-3-5-8)30-11-7-12(14(23)15(24)13(9)11)31-21-18(27)16(25)17(26)19(32-21)20(28)29/h1-7,16-19,21,23-27H,(H,28,29)/t16-,17-,18+,19-,21+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IKIIZLYTISPENI-ZFORQUDYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "446.364" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "446.08491" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O[C@@H]1[C@@H](O)[C@H](OC2=CC3=C(C(=O)C=C(O3)C3=CC=CC=C3)C(O)=C2O)O[C@@H]([C@H]1O)C(O)=O" xsd:string [Term] id: CHEBI:29865 name: benzo[a]pyrene namespace: chebi_ontology alt_id: CHEBI:22716 alt_id: CHEBI:3045 def: "An ortho- and peri-fused polycyclic arene consisting of five fused benzene rings." [] subset: 3_STAR synonym: "(B(a)P)" RELATED [ChEBI] synonym: "3,4-Benzopyrene" RELATED [NIST_Chemistry_WebBook] synonym: "3,4-Benzpyrene" RELATED [NIST_Chemistry_WebBook] synonym: "3,4-BP" RELATED [NIST_Chemistry_WebBook] synonym: "Benzo(a)pyrene" RELATED [ChemIDplus] synonym: "Benzo[a]pyrene" EXACT [KEGG_COMPOUND] synonym: "benzo[def]chrysene" RELATED [ChEBI] synonym: "benzo[pqr]tetraphene" EXACT IUPAC_NAME [IUPAC] synonym: "Benzpyrene" RELATED [KEGG_COMPOUND] synonym: "BP" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:1911333 {source="Beilstein"} xref: CAS:50-32-8 {source="ChemIDplus"} xref: CAS:50-32-8 {source="NIST Chemistry WebBook"} xref: CAS:50-32-8 {source="KEGG COMPOUND"} xref: Gmelin:262573 {source="Gmelin"} xref: KEGG:C07535 xref: LINCS:LSM-2198 xref: PMID:11932001 {source="Europe PMC"} xref: PMID:16256111 {source="Europe PMC"} xref: PMID:16381670 {source="Europe PMC"} xref: PMID:1844333 {source="Europe PMC"} xref: PMID:26530167 {source="Europe PMC"} xref: PMID:26703252 {source="Europe PMC"} xref: PMID:7561049 {source="Europe PMC"} xref: PMID:7721048 {source="Europe PMC"} xref: Reaxys:1911333 {source="Reaxys"} xref: Wikipedia:Benzo(a)pyrene is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H12" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H12/c1-2-7-17-15(4-1)12-16-9-8-13-5-3-6-14-10-11-18(17)20(16)19(13)14/h1-12H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FMMWHPNWAFZXNH-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "252.30928" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "252.09390" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "c1ccc2c(c1)cc1ccc3cccc4ccc2c1c34" xsd:string [Term] id: CHEBI:29866 name: arsenite(3-) namespace: chebi_ontology alt_id: CHEBI:13857 alt_id: CHEBI:2846 def: "An arsenite ion resulting from the removal of all three protons from the hydroxy groups of arsenous acid." [] subset: 3_STAR synonym: "[AsO3](3-)" RELATED [IUPAC] synonym: "ARSENITE" RELATED [PDBeChem] synonym: "Arsenite" RELATED [KEGG_COMPOUND] synonym: "arsenite" EXACT IUPAC_NAME [IUPAC] synonym: "arsorite" EXACT IUPAC_NAME [IUPAC] synonym: "AsO3(3-)" RELATED [IUPAC] synonym: "trioxidoarsenate(3-)" EXACT IUPAC_NAME [IUPAC] synonym: "trioxoarsenate(3-)" EXACT IUPAC_NAME [IUPAC] synonym: "trioxoarsenate(III)" EXACT IUPAC_NAME [IUPAC] xref: CAS:15502-74-6 {source="ChemIDplus"} xref: CAS:15502-74-6 {source="KEGG COMPOUND"} xref: Gmelin:25868 {source="Gmelin"} xref: KEGG:C06697 xref: PDBeChem:AST is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "AsO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/AsO3/c2-1(3)4/q-3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OWTFKEBRIAXSMO-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "122.91980" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "122.90798" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-][As]([O-])[O-]" xsd:string [Term] id: CHEBI:29959 name: quinolinate(2-) namespace: chebi_ontology alt_id: CHEBI:14975 alt_id: CHEBI:26417 subset: 3_STAR synonym: "pyridine-2,3-dicarboxylate" EXACT IUPAC_NAME [IUPAC] synonym: "quinolinate" RELATED [UniProt] synonym: "quinolinate" RELATED [ChEBI] xref: Gmelin:329233 {source="Gmelin"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H3NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H5NO4/c9-6(10)4-2-1-3-8-5(4)7(11)12/h1-3H,(H,9,10)(H,11,12)/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GJAWHXHKYYXBSV-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "165.10410" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "165.00730" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-]C(=O)c1cccnc1C([O-])=O" xsd:string [Term] id: CHEBI:29995 name: aspartate(2-) namespace: chebi_ontology def: "A C4-dicarboxylate that is the dianion obtained by the deprotonation of both the carboxy groups of aspartic acid." [] subset: 3_STAR synonym: "2-aminobutanedioate" EXACT IUPAC_NAME [IUPAC] synonym: "2-aminosuccinate" RELATED [ChEBI] synonym: "aspartate" EXACT IUPAC_NAME [IUPAC] synonym: "aspartate(2-)" EXACT [JCBN] synonym: "aspartic acid dianion" RELATED [JCBN] is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H5NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H7NO4/c5-2(4(8)9)1-3(6)7/h2H,1,5H2,(H,6,7)(H,8,9)/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CKLJMWTZIZZHCS-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "131.08684" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "131.02295" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NC(CC([O-])=O)C([O-])=O" xsd:string [Term] id: CHEBI:30031 name: succinate(2-) namespace: chebi_ontology alt_id: CHEBI:15125 alt_id: CHEBI:22941 alt_id: CHEBI:26803 def: "A dicarboxylic acid dianion resulting from the removal of a proton from both of the carboxy groups of succinic acid." [] subset: 3_STAR synonym: "(-)OOC-CH2-CH2-COO(-)" RELATED [ChEBI] synonym: "butanedioate" EXACT IUPAC_NAME [IUPAC] synonym: "butanedioic acid, ion(2-)" RELATED [ChemIDplus] synonym: "succinate" RELATED [UniProt] xref: Beilstein:1863859 {source="Beilstein"} xref: CAS:56-14-4 {source="ChemIDplus"} xref: Gmelin:240255 {source="Gmelin"} xref: MetaCyc:SUC xref: PMID:17190852 {source="Europe PMC"} xref: Reaxys:1863859 {source="Reaxys"} xref: UM-BBD_compID:c0312 {source="UM-BBD"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H4O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H6O4/c5-3(6)1-2-4(7)8/h1-2H2,(H,5,6)(H,7,8)/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KDYFGRWQOYBRFD-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "116.07216" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "116.01206" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-]C(=O)CCC([O-])=O" xsd:string [Term] id: CHEBI:30045 name: divanadium pentaoxide namespace: chebi_ontology subset: 3_STAR synonym: "divanadium pentaoxide" EXACT IUPAC_NAME [IUPAC] synonym: "V2O5" RELATED [IUPAC] synonym: "vanadium(V) oxide" RELATED [IUPAC] xref: CAS:1314-62-1 {source="KEGG COMPOUND"} xref: CAS:1314-62-1 {source="NIST Chemistry WebBook"} xref: Gmelin:82259 {source="Gmelin"} xref: KEGG:C19308 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "O5V2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/5O.2V" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GNTDGMZSJNCJKK-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "181.88000" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "181.86249" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O=[V](=O)O[V](=O)=O" xsd:string [Term] id: CHEBI:30089 name: acetate namespace: chebi_ontology alt_id: CHEBI:13704 alt_id: CHEBI:22165 alt_id: CHEBI:40480 def: "A monocarboxylic acid anion resulting from the removal of a proton from the carboxy group of acetic acid." [] subset: 3_STAR synonym: "acetate" EXACT [UniProt] synonym: "acetate" EXACT IUPAC_NAME [IUPAC] synonym: "ACETATE ION" RELATED [PDBeChem] synonym: "acetic acid, ion(1-)" RELATED [ChemIDplus] synonym: "Azetat" RELATED [ChEBI] synonym: "CH3-COO(-)" RELATED [IUPAC] synonym: "Ethanoat" RELATED [ChEBI] synonym: "ethanoate" RELATED [ChEBI] synonym: "MeCO2 anion" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:1901470 {source="Beilstein"} xref: CAS:71-50-1 {source="ChemIDplus"} xref: CAS:71-50-1 {source="NIST Chemistry WebBook"} xref: DrugBank:DB03166 xref: Gmelin:1379 {source="Gmelin"} xref: KEGG:C00033 xref: MetaCyc:ACET xref: NCIt:C94719 xref: PDBeChem:ACT xref: PMID:17190852 {source="Europe PMC"} xref: PMID:22211106 {source="Europe PMC"} xref: PMID:22371380 {source="Europe PMC"} xref: Reaxys:1901470 {source="Reaxys"} xref: SNOMEDCT:54526002 xref: UM-BBD_compID:c0050 {source="UM-BBD"} xref: Wikipedia:Acetate is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C2H3O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C2H4O2/c1-2(3)4/h1H3,(H,3,4)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QTBSBXVTEAMEQO-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "59.04402" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "59.01385" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC([O-])=O" xsd:string [Term] id: CHEBI:30114 name: aluminium trichloride namespace: chebi_ontology subset: 3_STAR synonym: "[AlCl3]" RELATED [IUPAC] synonym: "AlCl3" RELATED [IUPAC] synonym: "aluminium trichloride" EXACT IUPAC_NAME [IUPAC] synonym: "aluminium(3+) chloride" EXACT IUPAC_NAME [IUPAC] synonym: "aluminium(III) chloride" EXACT IUPAC_NAME [IUPAC] synonym: "Aluminum chloride anhydrous" RELATED [ChemIDplus] synonym: "Aluminum trichloride" RELATED [NIST_Chemistry_WebBook] synonym: "trichloridoaluminium" EXACT IUPAC_NAME [IUPAC] synonym: "trichloroalumane" EXACT IUPAC_NAME [IUPAC] xref: CAS:7446-70-0 {source="NIST Chemistry WebBook"} xref: CAS:7446-70-0 {source="ChemIDplus"} xref: Gmelin:1876 {source="Gmelin"} xref: NCIt:C76520 is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "AlCl3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/Al.3ClH/h;3*1H/q+3;;;/p-3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VSCWAEJMTAWNJL-UHFFFAOYSA-K" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "133.33964" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "131.88810" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cl[Al](Cl)Cl" xsd:string [Term] id: CHEBI:30145 name: lithium atom namespace: chebi_ontology subset: 3_STAR synonym: "3Li" RELATED [IUPAC] synonym: "Li" RELATED [IUPAC] synonym: "Lithium" RELATED [ChEBI] synonym: "lithium" EXACT IUPAC_NAME [IUPAC] synonym: "lithium" RELATED [ChEBI] synonym: "litio" RELATED [ChEBI] xref: CAS:7439-93-2 {source="NIST Chemistry WebBook"} xref: MeSH:D008094 xref: NCIt:C95186 xref: NIST Chemistry WebBook:7439-93-2 xref: SNOMEDCT:321719003 xref: SNOMEDCT:85899009 xref: WebElements:Li is_a: CHEBI:33250 ! atom property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "Li" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/Li" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WHXSMMKQMYFTQS-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "6.94100" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "7.01600" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Li]" xsd:string [Term] id: CHEBI:3015 name: benomyl namespace: chebi_ontology def: "A member of the class of benzimidazoles that is the methyl ester of [1-(butylcarbamoyl)-1H-benzimidazol-2-yl]carbamic acid. A foliar fungicide used to control a wide range of Ascomycetes and Fungi Imperfecti in a wide range of crops." [] subset: 3_STAR synonym: "1-(Butylcarbamoyl)-2-benzimidazol-methylcarbamat" RELATED [ChemIDplus] synonym: "1-(Butylcarbamoyl)-2-benzimidazolecarbamic acid, methyl ester" RELATED [ChemIDplus] synonym: "1-(N-Butylcarbamoyl)-2-(methoxy-carboxamido)-benzimidazol" RELATED [ChemIDplus] synonym: "Benlate" RELATED [KEGG_COMPOUND] synonym: "Benomyl" EXACT [KEGG_COMPOUND] synonym: "Methyl 1-(butylamino)carbonyl-1H-benzimidazol-2-ylcarbamate" RELATED [HMDB] synonym: "Methyl 1-(butylcarbamoyl)-2-benzimidazolecarbamate" RELATED [HMDB] synonym: "methyl [1-(butylcarbamoyl)-1H-benzimidazol-2-yl]carbamate" EXACT IUPAC_NAME [IUPAC] synonym: "Methyl N-(1-butylcarbamoyl-2-benzimidazole)carbamate" RELATED [HMDB] xref: Beilstein:825455 {source="Beilstein"} xref: CAS:17804-35-2 {source="ChemIDplus"} xref: CAS:17804-35-2 {source="NIST Chemistry WebBook"} xref: CAS:17804-35-2 {source="KEGG COMPOUND"} xref: HMDB:HMDB0031767 xref: KEGG:C10896 xref: MeSH:D001542 xref: NCIt:C47780 xref: Pesticides:benomyl {source="Alan Wood's Pesticides"} xref: PMID:15813220 {source="Europe PMC"} xref: PMID:16903866 {source="Europe PMC"} xref: PMID:19049291 {source="Europe PMC"} xref: PMID:24693254 {source="Europe PMC"} xref: PMID:24782104 {source="Europe PMC"} xref: PMID:25045800 {source="Europe PMC"} xref: PMID:25104429 {source="Europe PMC"} xref: PMID:25145128 {source="Europe PMC"} xref: PPDB:66 xref: Reaxys:825455 {source="Reaxys"} xref: SNOMEDCT:411379009 xref: SNOMEDCT:48041007 xref: Wikipedia:Benomyl is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:23888 ! drug property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C14H18N4O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C14H18N4O3/c1-3-4-9-15-13(19)18-11-8-6-5-7-10(11)16-12(18)17-14(20)21-2/h5-8H,3-4,9H2,1-2H3,(H,15,19)(H,16,17,20)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RIOXQFHNBCKOKP-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "290.31770" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "290.13789" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCNC(=O)n1c(NC(=O)OC)nc2ccccc12" xsd:string [Term] id: CHEBI:3023 name: benzbromarone namespace: chebi_ontology def: "1-Benzofuran substituted at C-2 and C-3 by an ethyl group and a 3,5-dibromo-4-hydroxybenzoyl group respectively. An inhibitor of CYP2C9, it is used as an anti-gout medication." [] subset: 3_STAR synonym: "(3,5-dibromo-4-hydroxyphenyl)(2-ethyl-1-benzofuran-3-yl)methanone" EXACT IUPAC_NAME [IUPAC] synonym: "2-ethyl-3-(3,5-dibrom-4-hydroxybenzoyl)benzofuran" RELATED [ChemIDplus] synonym: "3,5-dibromo-4-hydroxyphenyl-2-ethyl-3-benzofuranyl ketone" RELATED [ChemIDplus] synonym: "Benzbromarone" EXACT [KEGG_DRUG] synonym: "Uroleap (TN)" RELATED [KEGG_DRUG] xref: Beilstein:273668 {source="Beilstein"} xref: CAS:3562-84-3 {source="ChemIDplus"} xref: CAS:3562-84-3 {source="KEGG DRUG"} xref: Drug_Central:318 {source="DrugCentral"} xref: KEGG:D01056 xref: LINCS:LSM-2239 xref: PMID:18636784 {source="Europe PMC"} xref: PMID:26693855 {source="Europe PMC"} xref: PMID:26792818 {source="Europe PMC"} xref: PMID:27391386 {source="Europe PMC"} xref: PMID:28131653 {source="Europe PMC"} xref: PMID:28166217 {source="Europe PMC"} xref: PMID:28202260 {source="Europe PMC"} xref: PMID:7661033 {source="Europe PMC"} is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C17H12Br2O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C17H12Br2O3/c1-2-13-15(10-5-3-4-6-14(10)22-13)16(20)9-7-11(18)17(21)12(19)8-9/h3-8,21H,2H2,1H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WHQCHUCQKNIQEC-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "424.08338" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "421.91532" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCc1oc2ccccc2c1C(=O)c1cc(Br)c(O)c(Br)c1" xsd:string [Term] id: CHEBI:30245 name: linoleate namespace: chebi_ontology alt_id: CHEBI:12272 alt_id: CHEBI:14515 alt_id: CHEBI:20826 def: "An octadecadienoate with cis- double bonds at the 9- and 12- positions; the conjugate base of linoleic acid." [] subset: 3_STAR synonym: "(9Z,12Z)-9,12-octadecadienoic acid, ion(1-)" RELATED [ChemIDplus] synonym: "(9Z,12Z)-octadeca-9,12-dienoate" EXACT IUPAC_NAME [IUPAC] synonym: "(9Z,12Z)-octadecadienoate" RELATED [UniProt] synonym: "(Z,Z)-9,12-octadecadienoic acid, ion(1-)" RELATED [ChemIDplus] synonym: "cis,cis-9,12-octadecadienoate" RELATED [ChEBI] synonym: "cis,cis-linoleate" RELATED [ChEBI] synonym: "cis-Delta(9,12)-octadecadienoate" RELATED [ChEBI] synonym: "linoleic acid, ion(1-)" RELATED [ChemIDplus] xref: Beilstein:4139597 {source="Beilstein"} xref: CAS:1509-85-9 {source="ChemIDplus"} xref: Gmelin:667201 {source="Gmelin"} xref: KEGG:C01595 xref: MetaCyc:LINOLEIC_ACID xref: Reaxys:4139597 {source="Reaxys"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H31O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H32O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-18(19)20/h6-7,9-10H,2-5,8,11-17H2,1H3,(H,19,20)/p-1/b7-6-,10-9-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OYHQOLUKZRVURQ-HZJYTTRNSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "279.43754" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "279.23295" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCC\\C=C/C\\C=C/CCCCCCCC([O-])=O" xsd:string [Term] id: CHEBI:30304 name: antimony(0) namespace: chebi_ontology subset: 3_STAR synonym: "antimony" EXACT IUPAC_NAME [IUPAC] synonym: "antimony(0)" EXACT IUPAC_NAME [IUPAC] synonym: "Antimony, metallic" RELATED [ChemIDplus] synonym: "Sb(0)" RELATED [ChEBI] synonym: "Sbn" RELATED [IUPAC] synonym: "Stibium metallicum" RELATED [ChemIDplus] xref: CAS:7440-36-0 {source="ChemIDplus"} xref: Gmelin:16305 {source="Gmelin"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "Sb" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "121.760" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "120.90382" xsd:string [Term] id: CHEBI:30351 name: 2,2'-bipyridine namespace: chebi_ontology def: "A bipyridine in which the two pyridine moieties are linked by a bond between positions C-2 and C-2'." [] subset: 3_STAR synonym: "2,2'-Bipyridin" RELATED [ChemIDplus] synonym: "2,2'-bipyridine" EXACT IUPAC_NAME [IUPAC] synonym: "2,2'-bipyridyl" RELATED [IUPAC] synonym: "2,2'-dipyridine" RELATED [ChemIDplus] synonym: "2,2'-dipyridyl" RELATED [ChemIDplus] synonym: "2-(2-pyridyl)pyridine" RELATED [ChemIDplus] synonym: "alpha,alpha'-bipyridine" RELATED [NIST_Chemistry_WebBook] synonym: "alpha,alpha'-bipyridyl" RELATED [NIST_Chemistry_WebBook] synonym: "alpha,alpha'-dipyridine" RELATED [NIST_Chemistry_WebBook] synonym: "alpha,alpha'-dipyridyl" RELATED [NIST_Chemistry_WebBook] synonym: "bpy" RELATED [IUPAC] xref: Beilstein:113089 {source="Beilstein"} xref: CAS:366-18-7 {source="ChemIDplus"} xref: CAS:366-18-7 {source="NIST Chemistry WebBook"} xref: Chemspider:13867714 xref: Gmelin:3720 {source="Gmelin"} xref: Gmelin:936807 {source="Gmelin"} xref: MetaCyc:CPD-8819 xref: PDBeChem:0BP xref: PMID:11564534 {source="Europe PMC"} xref: PMID:11749322 {source="Europe PMC"} xref: PMID:15998024 {source="Europe PMC"} xref: PMID:17497019 {source="Europe PMC"} xref: PMID:17744054 {source="Europe PMC"} xref: PMID:20050605 {source="Europe PMC"} xref: PMID:24061243 {source="Europe PMC"} xref: PMID:24816007 {source="Europe PMC"} xref: PMID:24816017 {source="Europe PMC"} xref: PMID:28640600 {source="Europe PMC"} xref: PMID:31683694 {source="Europe PMC"} xref: PMID:32326057 {source="Europe PMC"} xref: PMID:32672448 {source="Europe PMC"} xref: PMID:32871080 {source="Europe PMC"} xref: PMID:33117818 {source="Europe PMC"} xref: PMID:33544614 {source="Europe PMC"} xref: Reaxys:113089 {source="Reaxys"} xref: Wikipedia:2\,2%27-Bipyridine is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H8N2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H8N2/c1-3-7-11-9(5-1)10-6-2-4-8-12-10/h1-8H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ROFVEXUMMXZLPA-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "156.188" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "156.06875" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C1=CN=C(C=C1)C1=CC=CC=N1" xsd:string [Term] id: CHEBI:30614 name: benzo[a]pyrene diol epoxide I namespace: chebi_ontology subset: 3_STAR synonym: "7,8,8a,9a-tetrahydrobenzo[1,12]tetrapheno[10,11-b]oxirene-7,8-diol" EXACT IUPAC_NAME [IUPAC] synonym: "7,8,8a,9a-tetrahydrobenzo[10,11]chryseno[3,4-b]oxirene-7,8-diol" EXACT IUPAC_NAME [IUPAC] synonym: "7,8-Dihydro-7,8-dihydroxybenzo[a]pyrene 9,10-oxide" RELATED [KEGG_COMPOUND] synonym: "Benzo(a)pyrene diol epoxide" RELATED [ChemIDplus] synonym: "benzo(a)pyrene diolepoxide I" RELATED [ChemIDplus] synonym: "benzo[a]pyrene-7,8-dihydrodiol-9,10-oxide" RELATED [ChEBI] synonym: "BP 7,8-Diol-9,10-epoxide 2" RELATED [ChemIDplus] synonym: "BPDE" RELATED [ChemIDplus] xref: Beilstein:1353131 {source="Beilstein"} xref: CAS:55097-80-8 {source="KEGG COMPOUND"} xref: CAS:58917-67-2 {source="ChemIDplus"} xref: KEGG:C14853 is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H14O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H14O3/c21-17-13-8-11-5-4-9-2-1-3-10-6-7-12(15(11)14(9)10)16(13)19-20(23-19)18(17)22/h1-8,17-22H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DQEPMTIXHXSFOR-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "302.32336" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "302.09429" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC1C(O)c2cc3ccc4cccc5ccc(c2C2OC12)c3c45" xsd:string [Term] id: CHEBI:30621 name: diarsenic trioxide namespace: chebi_ontology def: "An arsenic oxide in which arsenic and oxygen atoms are present in the ratio 2:3." [] subset: 3_STAR synonym: "Acide arsenieux" RELATED [ChemIDplus] synonym: "Anhydride arsenieux" RELATED [ChemIDplus] synonym: "Arsenic blanc" RELATED [ChemIDplus] synonym: "Arsenic trioxide" RELATED [ChemIDplus] synonym: "arsenic(III) oxide" RELATED [IUPAC] synonym: "Arsenigen saure" RELATED [ChemIDplus] synonym: "Arsenous oxide" RELATED [ChemIDplus] synonym: "Arsenous oxide anhydride" RELATED [ChemIDplus] synonym: "As2O3" RELATED [IUPAC] synonym: "Diarsenic oxide" RELATED [NIST_Chemistry_WebBook] synonym: "diarsenic trioxide" EXACT [IUPAC] synonym: "tricyclo[3.3.1.1(3,7)]tetraarsoxane" EXACT IUPAC_NAME [IUPAC] synonym: "White arsenic" RELATED [ChemIDplus] xref: CAS:1327-53-3 {source="NIST Chemistry WebBook"} xref: CAS:1327-53-3 {source="ChemIDplus"} xref: ChemIDplus:1327-53-3 xref: DrugBank:DB01169 xref: Gmelin:35185 {source="Gmelin"} xref: KEGG DRUG:D02106 xref: KEGG:D02106 xref: MeSH:C006632 xref: NCIt:C1005 xref: NIST Chemistry WebBook:1327-53-3 xref: PMID:11585900 {source="Europe PMC"} xref: PMID:17178007 {source="Europe PMC"} xref: PMID:17286223 {source="Europe PMC"} xref: PMID:24993472 {source="Europe PMC"} xref: PMID:25042713 {source="Europe PMC"} xref: PMID:25436934 {source="Europe PMC"} xref: PMID:25444910 {source="Europe PMC"} xref: PMID:25577250 {source="Europe PMC"} xref: PMID:25627637 {source="Europe PMC"} xref: Reaxys:16502683 {source="Reaxys"} xref: SNOMEDCT:400907001 xref: SNOMEDCT:72251000 xref: Wikipedia:Arsenic_trioxide is_a: CHEBI:50527 ! arsenic oxide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "As4O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/As4O6/c5-1-6-3-8-2(5)9-4(7-1)10-3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KTTMEOWBIWLMSE-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "395.68280" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "395.65587" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O1[As]2O[As]3O[As]1O[As](O2)O3" xsd:string [Term] id: CHEBI:30623 name: oxalate(2-) namespace: chebi_ontology alt_id: CHEBI:14702 alt_id: CHEBI:25729 alt_id: CHEBI:44820 def: "A dicarboxylic acid dianion obtained by deprotonation of both carboxy groups of oxalic acid." [] subset: 3_STAR synonym: "ethanedioate" EXACT IUPAC_NAME [IUPAC] synonym: "ethanedioic acid, ion(2-)" RELATED [ChemIDplus] synonym: "ox" RELATED [IUPAC] synonym: "oxalate" RELATED [UniProt] synonym: "OXALATE ION" RELATED [PDBeChem] xref: Beilstein:1905970 {source="Beilstein"} xref: CAS:338-70-5 {source="ChemIDplus"} xref: Gmelin:2207 {source="Gmelin"} xref: KEGG:C00209 xref: PDBeChem:OXL xref: Reaxys:1905970 {source="Reaxys"} xref: UM-BBD_compID:c0017 {source="UM-BBD"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C2O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C2H2O4/c3-1(4)2(5)6/h(H,3,4)(H,5,6)/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "MUBZPKHOEPUJKR-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "88.01900" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "87.98076" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-]C(=O)C([O-])=O" xsd:string [Term] id: CHEBI:30660 name: thyroxine namespace: chebi_ontology def: "An iodothyronine compound having iodo substituents at the 3-, 3'-, 5- and 5'-positions." [] subset: 3_STAR synonym: "2-amino-3-[4-(4-hydroxy-3,5-diiodophenoxy)-3,5-diiodophenyl]propanoic acid" RELATED [IUPAC] synonym: "DL-Thyroxine" RELATED [ChemIDplus] synonym: "O-(4-Hydroxy-3,5-diiodophenyl)-3,5-diiodo-DL-tyrosine" RELATED [ChemIDplus] synonym: "Thx" RELATED [IUPAC] synonym: "thyroxine" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:2228514 {source="Beilstein"} xref: CAS:300-30-1 {source="ChemIDplus"} xref: ChemIDplus:300-30-1 xref: CiteXplore:15206581 xref: MeSH:D013974 xref: NCIt:C2302 xref: PMID:15206581 {source="Europe PMC"} xref: PMID:24375501 {source="Europe PMC"} xref: PMID:9824273 {source="Europe PMC"} xref: SNOMEDCT:73187006 is_a: CHEBI:33709 ! amino acid is_a: CHEBI:33853 ! phenols relationship: has_role EFO:0001824 ! hormone role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C15H11I4NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C15H11I4NO4/c16-8-4-7(5-9(17)13(8)21)24-14-10(18)1-6(2-11(14)19)3-12(20)15(22)23/h1-2,4-5,12,21H,3,20H2,(H,22,23)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XUIIKFGFIJCVMT-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "776.87006" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "776.68669" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NC(Cc1cc(I)c(Oc2cc(I)c(O)c(I)c2)c(I)c1)C(O)=O" xsd:string [Term] id: CHEBI:30742 name: ethylene glycol namespace: chebi_ontology alt_id: CHEBI:21317 alt_id: CHEBI:42277 alt_id: CHEBI:5473 def: "A 1,2-glycol compound produced via reaction of ethylene oxide with water." [] subset: 3_STAR synonym: "1,2-Dihydroxyethane" RELATED [NIST_Chemistry_WebBook] synonym: "1,2-ETHANEDIOL" RELATED [PDBeChem] synonym: "1,2-Ethanediol" RELATED [KEGG_COMPOUND] synonym: "2-Hydroxyethanol" RELATED [NIST_Chemistry_WebBook] synonym: "ethane-1,2-diol" EXACT IUPAC_NAME [IUPAC] synonym: "Ethanediol" RELATED [NIST_Chemistry_WebBook] synonym: "Ethylene glycol" EXACT [KEGG_COMPOUND] synonym: "ethylene glycol" EXACT IUPAC_NAME [IUPAC] synonym: "ethylene glycol" EXACT [UniProt] synonym: "Glycol" RELATED [KEGG_COMPOUND] synonym: "HO-CH2-CH2-OH" RELATED [IUPAC] synonym: "Monoethylene glycol" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:505945 {source="Beilstein"} xref: CAS:107-21-1 {source="NIST Chemistry WebBook"} xref: CAS:107-21-1 {source="ChemIDplus"} xref: CAS:107-21-1 {source="KEGG COMPOUND"} xref: Gmelin:943 {source="Gmelin"} xref: KEGG:C01380 xref: KEGG:C15588 xref: KNApSAcK:C00007409 xref: MetaCyc:GLYCOL xref: PDBeChem:EDO xref: PMID:10349109 {source="Europe PMC"} xref: PMID:15716482 {source="Europe PMC"} xref: PMID:16901854 {source="Europe PMC"} xref: PMID:17186009 {source="Europe PMC"} xref: PMID:17336832 {source="Europe PMC"} xref: PMID:17439666 {source="Europe PMC"} xref: PMID:17979222 {source="Europe PMC"} xref: PMID:18612987 {source="Europe PMC"} xref: PMID:23764541 {source="Europe PMC"} xref: PMID:23827374 {source="Europe PMC"} xref: PMID:24045699 {source="Europe PMC"} xref: PMID:24643482 {source="Europe PMC"} xref: PMID:25108762 {source="Europe PMC"} xref: PMID:9463526 {source="Europe PMC"} xref: PPDB:1310 xref: Reaxys:505945 {source="Reaxys"} xref: UM-BBD_compID:c0542 {source="UM-BBD"} xref: Wikipedia:Ethylene_Glycol is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C2H6O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C2H6O2/c3-1-2-4/h3-4H,1-2H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LYCAIKOWRPUZTN-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "62.06784" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "62.03678" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OCCO" xsd:string [Term] id: CHEBI:30744 name: oxaloacetic acid namespace: chebi_ontology alt_id: CHEBI:24959 alt_id: CHEBI:25734 alt_id: CHEBI:7812 def: "An oxodicarboxylic acid that is succinic acid bearing a single oxo group." [] subset: 3_STAR synonym: "2-Oxobutanedioic acid" RELATED [KEGG_COMPOUND] synonym: "2-oxobutanedioic acid" EXACT IUPAC_NAME [IUPAC] synonym: "2-oxosuccinic acid" RELATED [NIST_Chemistry_WebBook] synonym: "3-carboxy-3-oxopropanoic acid" RELATED [IUPAC] synonym: "keto-succinic acid" RELATED [ChEBI] synonym: "ketosuccinic acid" RELATED [NIST_Chemistry_WebBook] synonym: "OAA" RELATED [NIST_Chemistry_WebBook] synonym: "Oxalacetic acid" RELATED [KEGG_COMPOUND] synonym: "Oxaloacetic acid" EXACT [KEGG_COMPOUND] synonym: "oxobutanedioic acid" RELATED [ChEBI] synonym: "Oxosuccinic acid" RELATED [KEGG_COMPOUND] xref: Beilstein:1705475 {source="Beilstein"} xref: CAS:328-42-7 {source="KEGG COMPOUND"} xref: CAS:328-42-7 {source="ChemIDplus"} xref: CAS:328-42-7 {source="NIST Chemistry WebBook"} xref: Gmelin:1042886 {source="Gmelin"} xref: HMDB:HMDB0000223 xref: KEGG:C00036 xref: KNApSAcK:C00001197 xref: LIPID_MAPS_instance:LMFA01170061 {source="LIPID MAPS"} xref: MetaCyc:OXALACETIC_ACID xref: Patent:US2011064679 xref: PDBeChem:OAA xref: PMID:15710237 {source="Europe PMC"} xref: PMID:17190852 {source="Europe PMC"} xref: PMID:19793063 {source="Europe PMC"} xref: PMID:21825143 {source="Europe PMC"} xref: PMID:22451473 {source="Europe PMC"} xref: PMID:28322963 {source="Europe PMC"} xref: PMID:4014670 {source="Europe PMC"} xref: PMID:8422384 {source="Europe PMC"} xref: Reaxys:1705475 {source="Reaxys"} xref: Wikipedia:Oxaloacetic_acid is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H4O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H4O5/c5-2(4(8)9)1-3(6)7/h1H2,(H,6,7)(H,8,9)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KHPXUQMNIQBQEV-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "132.07160" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "132.00587" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)CC(=O)C(O)=O" xsd:string [Term] id: CHEBI:30746 name: benzoic acid namespace: chebi_ontology alt_id: CHEBI:22722 alt_id: CHEBI:3029 alt_id: CHEBI:41051 def: "A compound comprising a benzene ring core carrying a carboxylic acid substituent." [] subset: 3_STAR synonym: "acide benzoique" RELATED [ChEBI] synonym: "Aromatic carboxylic acid" RELATED [KEGG_COMPOUND] synonym: "Benzenecarboxylic acid" RELATED [KEGG_COMPOUND] synonym: "Benzeneformic acid" RELATED [HMDB] synonym: "Benzenemethanoic acid" RELATED [HMDB] synonym: "Benzoesaeure" RELATED [ChEBI] synonym: "BENZOIC ACID" EXACT [PDBeChem] synonym: "Benzoic acid" EXACT [KEGG_COMPOUND] synonym: "benzoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "Dracylic acid" RELATED [KEGG_COMPOUND] synonym: "E210" RELATED [ChEBI] synonym: "Phenylcarboxylic acid" RELATED [HMDB] synonym: "Phenylformic acid" RELATED [KEGG_COMPOUND] xref: Beilstein:636131 {source="Beilstein"} xref: CAS:65-85-0 {source="KEGG COMPOUND"} xref: CAS:65-85-0 {source="NIST Chemistry WebBook"} xref: CAS:65-85-0 {source="ChemIDplus"} xref: Drug_Central:4664 {source="DrugCentral"} xref: DrugBank:DB03793 xref: Gmelin:2946 {source="Gmelin"} xref: HMDB:HMDB0001870 xref: KEGG:C00180 xref: KEGG:C00539 xref: KEGG:D00038 xref: KNApSAcK:C00000207 xref: LINCS:LSM-37118 xref: MeSH:D019817 xref: MetaCyc:BENZOATE xref: NCIt:C61646 xref: PDBeChem:BEZ xref: PMID:16728954 {source="Europe PMC"} xref: PMID:17439666 {source="Europe PMC"} xref: PMID:18314336 {source="Europe PMC"} xref: PPDB:1475 xref: Reaxys:636131 {source="Reaxys"} xref: SNOMEDCT:387350000 xref: SNOMEDCT:63318000 xref: Wikipedia:Benzoic_Acid xref: YMDB:YMDB02301 is_a: EFO:0004416 ! acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H6O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H6O2/c8-7(9)6-4-2-1-3-5-6/h1-5H,(H,8,9)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WPYMKLBDIGXBTP-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "122.12130" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "122.03678" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)c1ccccc1" xsd:string [Term] id: CHEBI:30754 name: anthranilic acid namespace: chebi_ontology alt_id: CHEBI:22577 alt_id: CHEBI:22578 alt_id: CHEBI:2757 alt_id: CHEBI:40980 def: "An aminobenzoic acid that is benzoic acid having a single amino substituent located at position 2. It is a metabolite produced in L-tryptophan-kynurenine pathway in the central nervous system." [] subset: 3_STAR synonym: "2-Aminobenzoesaeure" RELATED [ChEBI] synonym: "2-AMINOBENZOIC ACID" RELATED [PDBeChem] synonym: "2-aminobenzoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "2-carboxyaniline" RELATED [NIST_Chemistry_WebBook] synonym: "Anthranilic acid" EXACT [KEGG_COMPOUND] synonym: "o-Aminobenzoesaeure" RELATED [ChEBI] synonym: "o-Aminobenzoic acid" RELATED [KEGG_COMPOUND] synonym: "o-aminobenzoic acid" RELATED [NIST_Chemistry_WebBook] synonym: "o-carboxyaniline" RELATED [NIST_Chemistry_WebBook] synonym: "Vitamin L1" RELATED [KEGG_COMPOUND] xref: Beilstein:471803 {source="Beilstein"} xref: CAS:118-92-3 {source="KEGG COMPOUND"} xref: CAS:118-92-3 {source="NIST Chemistry WebBook"} xref: CAS:118-92-3 {source="ChemIDplus"} xref: DrugBank:DB04166 xref: Gmelin:3397 {source="Gmelin"} xref: HMDB:HMDB0001123 xref: KEGG:C00108 xref: KNApSAcK:C00007382 xref: MetaCyc:ANTHRANILATE xref: PDBeChem:BE2 xref: PMID:11680877 {source="Europe PMC"} xref: PMID:19745702 {source="Europe PMC"} xref: PMID:20511543 {source="Europe PMC"} xref: PMID:22321994 {source="Europe PMC"} xref: PMID:22341575 {source="Europe PMC"} xref: PMID:22784643 {source="Europe PMC"} xref: PMID:28166217 {source="Europe PMC"} xref: PMID:9784247 {source="Europe PMC"} xref: Reaxys:471803 {source="Reaxys"} xref: Wikipedia:Anthranilic_acid is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H7NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H7NO2/c8-6-4-2-1-3-5(6)7(9)10/h1-4H,8H2,(H,9,10)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RWZYAGGXGHYGMB-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "137.13600" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "137.04768" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Nc1ccccc1C(O)=O" xsd:string [Term] id: CHEBI:30762 name: salicylate namespace: chebi_ontology alt_id: CHEBI:15061 alt_id: CHEBI:26595 def: "A monohydroxybenzoate that is the conjugate base of salicylic acid." [] subset: 3_STAR synonym: "2-hydroxybenzoate" EXACT IUPAC_NAME [IUPAC] synonym: "2-hydroxybenzoic acid ion(1-)" RELATED [ChemIDplus] synonym: "o-hydroxybenzoate" RELATED [ChemIDplus] synonym: "sal" RELATED [IUPAC] synonym: "Salicylate" EXACT [KEGG_COMPOUND] synonym: "salicylate" EXACT [UniProt] xref: Beilstein:3605209 {source="Beilstein"} xref: CAS:63-36-5 {source="ChemIDplus"} xref: Gmelin:3417 {source="Gmelin"} xref: KEGG:C00805 xref: PMID:16669002 {source="Europe PMC"} xref: PMID:16934829 {source="Europe PMC"} xref: Reaxys:3605209 {source="Reaxys"} xref: UM-BBD_compID:c0043 {source="UM-BBD"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H5O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H6O3/c8-6-4-2-1-3-5(6)7(9)10/h1-4,8H,(H,9,10)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YGSDEFSMJLZEOE-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "137.11280" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "137.02442" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Oc1ccccc1C([O-])=O" xsd:string [Term] id: CHEBI:30768 name: propionic acid namespace: chebi_ontology alt_id: CHEBI:26304 alt_id: CHEBI:45227 alt_id: CHEBI:8476 def: "A short-chain saturated fatty acid comprising ethane attached to the carbon of a carboxy group." [] subset: 3_STAR synonym: "acide propanoique" RELATED [ChEBI] synonym: "acide propionique" RELATED [NIST_Chemistry_WebBook] synonym: "carboxyethane" RELATED [ChemIDplus] synonym: "CH3-CH2-COOH" RELATED [IUPAC] synonym: "ethanecarboxylic acid" RELATED [ChemIDplus] synonym: "ethylformic acid" RELATED [ChemIDplus] synonym: "metacetonic acid" RELATED [ChemIDplus] synonym: "methylacetic acid" RELATED [ChemIDplus] synonym: "PA" RELATED [ChEBI] synonym: "PROPANOIC ACID" RELATED [PDBeChem] synonym: "Propanoic acid" RELATED [KEGG_COMPOUND] synonym: "propanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "propioic acid" RELATED [LIPID_MAPS] synonym: "Propionic acid" EXACT [KEGG_COMPOUND] synonym: "propionic acid" EXACT [IUPAC] synonym: "Propionsaeure" RELATED [ChEBI] synonym: "propoic acid" RELATED [ChEBI] synonym: "pseudoacetic acid" RELATED [ChemIDplus] xref: Beilstein:506071 {source="Beilstein"} xref: CAS:79-09-4 {source="KEGG COMPOUND"} xref: CAS:79-09-4 {source="NIST Chemistry WebBook"} xref: CAS:79-09-4 {source="ChemIDplus"} xref: DrugBank:DB03766 xref: Gmelin:1821 {source="Gmelin"} xref: KEGG:C00163 xref: KEGG:D02310 xref: LIPID_MAPS_instance:LMFA01010003 {source="LIPID MAPS"} xref: PDBeChem:PPI xref: PMID:15868474 {source="Europe PMC"} xref: PMID:1628870 {source="Europe PMC"} xref: PMID:16763906 {source="Europe PMC"} xref: PPDB:1341 is_a: CHEBI:35366 ! fatty acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H6O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H6O2/c1-2-3(4)5/h2H2,1H3,(H,4,5)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XBDQKXXYIPTUBI-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "74.07850" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "74.03678" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCC(O)=O" xsd:string [Term] id: CHEBI:30769 name: citric acid namespace: chebi_ontology alt_id: CHEBI:23322 alt_id: CHEBI:3727 alt_id: CHEBI:41523 def: "A tricarboxylic acid that is propane-1,2,3-tricarboxylic acid bearing a hydroxy substituent at position 2. It is an important metabolite in the pathway of all aerobic organisms." [] subset: 3_STAR synonym: "2-Hydroxy-1,2,3-propanetricarboxylic acid" RELATED [KEGG_COMPOUND] synonym: "2-hydroxypropane-1,2,3-tricarboxylic acid" EXACT IUPAC_NAME [IUPAC] synonym: "2-Hydroxytricarballylic acid" RELATED [KEGG_COMPOUND] synonym: "3-Carboxy-3-hydroxypentane-1,5-dioic acid" RELATED [HMDB] synonym: "CITRIC ACID" EXACT [PDBeChem] synonym: "Citric acid" EXACT [KEGG_COMPOUND] synonym: "Citronensaeure" RELATED [ChEBI] synonym: "E330" RELATED [ChEBI] synonym: "H3cit" RELATED [IUPAC] xref: Beilstein:782061 {source="Beilstein"} xref: BPDB:1359 xref: CAS:77-92-9 {source="ChemIDplus"} xref: CAS:77-92-9 {source="NIST Chemistry WebBook"} xref: CAS:77-92-9 {source="KEGG COMPOUND"} xref: Drug_Central:666 {source="DrugCentral"} xref: DrugBank:DB04272 xref: Gmelin:4240 {source="Gmelin"} xref: HMDB:HMDB0000094 xref: KEGG:C00158 xref: KEGG:D00037 xref: KNApSAcK:C00007619 xref: MetaCyc:CIT xref: PDBeChem:CIT xref: PMID:11762832 {source="Europe PMC"} xref: PMID:11782123 {source="Europe PMC"} xref: PMID:11857437 {source="Europe PMC"} xref: PMID:14537820 {source="Europe PMC"} xref: PMID:15311880 {source="Europe PMC"} xref: PMID:15934243 {source="Europe PMC"} xref: PMID:16232627 {source="Europe PMC"} xref: PMID:17190852 {source="Europe PMC"} xref: PMID:17357118 {source="Europe PMC"} xref: PMID:17604395 {source="Europe PMC"} xref: PMID:18298573 {source="Europe PMC"} xref: PMID:18960216 {source="Europe PMC"} xref: PMID:19288211 {source="Europe PMC"} xref: PMID:22115968 {source="Europe PMC"} xref: PMID:22192423 {source="Europe PMC"} xref: PMID:22264346 {source="Europe PMC"} xref: PMID:22373571 {source="Europe PMC"} xref: PMID:22509852 {source="Europe PMC"} xref: Reaxys:782061 {source="Reaxys"} xref: Wikipedia:Citric_Acid is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H8O7" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H8O7/c7-3(8)1-6(13,5(11)12)2-4(9)10/h13H,1-2H2,(H,7,8)(H,9,10)(H,11,12)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KRKNYBCHXYNGOX-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "192.123" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "192.02700" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)CC(O)(CC(O)=O)C(O)=O" xsd:string [Term] id: CHEBI:30772 name: butyric acid namespace: chebi_ontology alt_id: CHEBI:113450 alt_id: CHEBI:22948 alt_id: CHEBI:3234 alt_id: CHEBI:41208 def: "A straight-chain saturated fatty acid that is butane in which one of the terminal methyl groups has been oxidised to a carboxy group." [] subset: 3_STAR synonym: "1-butanoic acid" RELATED [HMDB] synonym: "1-butyric acid" RELATED [HMDB] synonym: "1-propanecarboxylic acid" RELATED [MetaCyc] synonym: "4:0" RELATED [ChEBI] synonym: "acide butanoique" RELATED [IUPAC] synonym: "acide butyrique" RELATED [ChEBI] synonym: "butanic acid" RELATED [ChEBI] synonym: "Butanoate" RELATED [KEGG_COMPOUND] synonym: "BUTANOIC ACID" RELATED [PDBeChem] synonym: "Butanoic acid" RELATED [KEGG_COMPOUND] synonym: "butanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "butoic acid" RELATED [ChEBI] synonym: "Buttersaeure" RELATED [ChEBI] synonym: "Butyric acid" EXACT [KEGG_COMPOUND] synonym: "butyric acid" EXACT [IUPAC] synonym: "C4:0" RELATED [ChEBI] synonym: "CH3-[CH2]2-COOH" RELATED [IUPAC] synonym: "ethylacetic acid" RELATED [NIST_Chemistry_WebBook] synonym: "n-butanoic acid" RELATED [NIST_Chemistry_WebBook] synonym: "n-butyric acid" RELATED [NIST_Chemistry_WebBook] synonym: "propanecarboxylic acid" RELATED [HMDB] synonym: "propylformic acid" RELATED [MetaCyc] xref: Beilstein:906770 {source="Beilstein"} xref: CAS:107-92-6 {source="ChemIDplus"} xref: CAS:107-92-6 {source="NIST Chemistry WebBook"} xref: CAS:107-92-6 {source="KEGG COMPOUND"} xref: DrugBank:DB03568 xref: Gmelin:26242 {source="Gmelin"} xref: HMDB:HMDB0000039 xref: KEGG:C00246 xref: KNApSAcK:C00001180 xref: LIPID_MAPS_instance:LMFA01010004 {source="LIPID MAPS"} xref: MetaCyc:BUTYRIC_ACID xref: PDBeChem:BUA xref: PMID:10736622 {source="Europe PMC"} xref: PMID:10956204 {source="ChEMBL"} xref: PMID:11201044 {source="Europe PMC"} xref: PMID:11208715 {source="Europe PMC"} xref: PMID:11238216 {source="Europe PMC"} xref: PMID:11305323 {source="Europe PMC"} xref: PMID:12068484 {source="Europe PMC"} xref: PMID:13678314 {source="Europe PMC"} xref: PMID:14962641 {source="Europe PMC"} xref: PMID:1542095 {source="ChEMBL"} xref: PMID:15809727 {source="Europe PMC"} xref: PMID:15810631 {source="Europe PMC"} xref: PMID:15938880 {source="Europe PMC"} xref: PMID:19318247 {source="Europe PMC"} xref: PMID:19366864 {source="Europe PMC"} xref: PMID:19703412 {source="Europe PMC"} xref: PMID:21699495 {source="Europe PMC"} xref: PMID:22038864 {source="Europe PMC"} xref: PMID:22194341 {source="Europe PMC"} xref: PMID:22322557 {source="Europe PMC"} xref: PMID:22339023 {source="Europe PMC"} xref: PMID:22466881 {source="Europe PMC"} xref: Reaxys:906770 {source="Reaxys"} xref: Wikipedia:Butyric_acid is_a: CHEBI:35366 ! fatty acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H8O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H8O2/c1-2-3-4(5)6/h2-3H2,1H3,(H,5,6)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FERIUCNNQQJTOY-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "88.10510" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "88.05243" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCC(O)=O" xsd:string [Term] id: CHEBI:30779 name: succinate(1-) namespace: chebi_ontology def: "A dicarboxylic acid monoanion resulting from the removal of a proton from one of the carboxy groups of succinic acid." [] subset: 3_STAR synonym: "3-carboxypropanoate" EXACT IUPAC_NAME [IUPAC] synonym: "Butanedioic acid, conjugate base" RELATED [NIST_Chemistry_WebBook] synonym: "HOOC-CH2-CH2-COO(-)" RELATED [ChEBI] synonym: "hydrogen succinate" RELATED [ChEBI] xref: Beilstein:3904279 {source="Beilstein"} xref: Gmelin:325292 {source="Gmelin"} xref: Reaxys:3904279 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H5O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H6O4/c5-3(6)1-2-4(7)8/h1-2H2,(H,5,6)(H,7,8)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KDYFGRWQOYBRFD-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "117.08010" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "117.01933" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)CCC([O-])=O" xsd:string [Term] id: CHEBI:30780 name: maleate(2-) namespace: chebi_ontology alt_id: CHEBI:14559 alt_id: CHEBI:25118 def: "A C4-dicarboxylate that is the Z-isomer of but-2-enedioate(2-)" [] subset: 3_STAR synonym: "(2Z)-but-2-enedioate" EXACT IUPAC_NAME [IUPAC] synonym: "male" RELATED [IUPAC] synonym: "maleate" RELATED [UniProt] xref: Beilstein:3588415 {source="Beilstein"} xref: Gmelin:49853 {source="Gmelin"} xref: Reaxys:3588415 {source="Reaxys"} is_a: CHEBI:132951 ! maleate property_value: http://purl.obolibrary.org/obo/chebi/charge "-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H2O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H4O4/c5-3(6)1-2-4(7)8/h1-2H,(H,5,6)(H,7,8)/p-2/b2-1-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VZCYOOQTPOCHFL-UPHRSURJSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "114.05628" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "113.99641" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-]C(=O)\\C=C/C([O-])=O" xsd:string [Term] id: CHEBI:30794 name: malonic acid namespace: chebi_ontology alt_id: CHEBI:25132 alt_id: CHEBI:44060 alt_id: CHEBI:6660 def: "An alpha,omega-dicarboxylic acid in which the two carboxy groups are separated by a single methylene group." [] subset: 3_STAR synonym: "H2malo" RELATED [IUPAC] synonym: "HOOC-CH2-COOH" RELATED [IUPAC] synonym: "MALONIC ACID" EXACT [PDBeChem] synonym: "Malonic acid" EXACT [KEGG_COMPOUND] synonym: "Propanedioic acid" RELATED [KEGG_COMPOUND] synonym: "propanedioic acid" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:1751370 {source="Beilstein"} xref: CAS:141-82-2 {source="NIST Chemistry WebBook"} xref: CAS:141-82-2 {source="ChemIDplus"} xref: CAS:141-82-2 {source="KEGG COMPOUND"} xref: DrugBank:DB02175 xref: Gmelin:2550 {source="Gmelin"} xref: HMDB:HMDB0000691 xref: KEGG:C00383 xref: KNApSAcK:C00001193 xref: LIPID_MAPS_instance:LMFA01170041 {source="LIPID MAPS"} xref: MetaCyc:MALONATE xref: PDBeChem:MLA xref: PMID:22770225 {source="Europe PMC"} xref: Reaxys:1751370 {source="Reaxys"} xref: Wikipedia:Malonic_acid is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H4O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H4O4/c4-2(5)1-3(6)7/h1H2,(H,4,5)(H,6,7)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OFOBLEOULBTSOW-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "104.06146" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "104.01096" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)CC(O)=O" xsd:string [Term] id: CHEBI:30807 name: tetradecanoate namespace: chebi_ontology alt_id: CHEBI:35292 def: "A long-chain fatty acid anion that is the conjugate base of myristic acid; major species at pH 7.3." [] subset: 3_STAR synonym: "1-tetradecanecarboxylate" RELATED [ChEBI] synonym: "CH3-[CH2]12-COO(-)" RELATED [IUPAC] synonym: "myristate" RELATED [ChEBI] synonym: "n-tetradecan-1-oate" RELATED [ChEBI] synonym: "n-tetradecoate" RELATED [ChEBI] synonym: "Tetradecanoate" EXACT [KEGG_COMPOUND] synonym: "tetradecanoate" EXACT IUPAC_NAME [IUPAC] synonym: "tetradecanoate" EXACT [UniProt] synonym: "tetradecoate" RELATED [ChEBI] xref: Beilstein:3589340 {source="Beilstein"} xref: Gmelin:335122 {source="Gmelin"} xref: KEGG:C06424 xref: Reaxys:3589340 {source="Reaxys"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C14H27O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C14H28O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14(15)16/h2-13H2,1H3,(H,15,16)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "TUNFSRHWOTWDNC-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "227.364" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "227.20165" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(CCCCCCCC)CCCCC([O-])=O" xsd:string [Term] id: CHEBI:30823 name: oleate namespace: chebi_ontology alt_id: CHEBI:14684 alt_id: CHEBI:25663 def: "A C18, long straight-chain monounsaturated fatty acid anion; and the conjugate base of oleic acid, arising from deprotonation of the carboxylic acid group." [] subset: 3_STAR synonym: "(9Z)-octadec-9-enoate" EXACT IUPAC_NAME [IUPAC] synonym: "(9Z)-octadecenoate" RELATED [UniProt] synonym: "(Z)-9-octadecenoic acid, ion(1-)" RELATED [ChemIDplus] synonym: "cis-9-octadecenoate" RELATED [CBN] synonym: "Oleat" RELATED [ChEBI] synonym: "oleic acid anion" RELATED [ChEBI] xref: Beilstein:1913148 {source="Beilstein"} xref: CAS:115-06-0 {source="ChemIDplus"} xref: Gmelin:344067 {source="Gmelin"} xref: PMID:12429352 {source="Europe PMC"} xref: Reaxys:1913148 {source="Reaxys"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H33O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H34O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-18(19)20/h9-10H,2-8,11-17H2,1H3,(H,19,20)/p-1/b10-9-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ZQPPMHVWECSIRJ-KTKRTIGZSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "281.45342" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "281.24860" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCC\\C=C/CCCCCCCC([O-])=O" xsd:string [Term] id: CHEBI:30832 name: adipic acid namespace: chebi_ontology alt_id: CHEBI:22268 alt_id: CHEBI:2489 def: "An alpha,omega-dicarboxylic acid that is the 1,4-dicarboxy derivative of butane." [] subset: 3_STAR synonym: "1,4-butanedicarboxylic acid" RELATED [NIST_Chemistry_WebBook] synonym: "1,6-hexanedioic acid" RELATED [NIST_Chemistry_WebBook] synonym: "Adipic acid" EXACT [KEGG_COMPOUND] synonym: "adipic acid" EXACT [IUPAC] synonym: "adipinic acid" RELATED [NIST_Chemistry_WebBook] synonym: "Adipinsaeure" RELATED [ChEBI] synonym: "E 355" RELATED [ChEBI] synonym: "E-355" RELATED [ChEBI] synonym: "E355" RELATED [ChEBI] synonym: "hexanedioic acid" EXACT IUPAC_NAME [IUPAC] synonym: "INS No. 355" RELATED [ChEBI] xref: Beilstein:1209788 {source="Beilstein"} xref: CAS:124-04-9 {source="KEGG COMPOUND"} xref: CAS:124-04-9 {source="ChemIDplus"} xref: CAS:124-04-9 {source="NIST Chemistry WebBook"} xref: Drug_Central:3474 {source="DrugCentral"} xref: FAO/WHO_standards:174 xref: Gmelin:3166 {source="Gmelin"} xref: HMDB:HMDB0000448 xref: KEGG:C06104 xref: KEGG:D08839 xref: KNApSAcK:C00001178 xref: LIPID_MAPS_instance:LMFA01170048 {source="LIPID MAPS"} xref: MetaCyc:ADIPATE xref: PDBeChem:0L1 xref: PMID:22770225 {source="Europe PMC"} xref: PMID:24491734 {source="Europe PMC"} xref: PMID:24895214 {source="Europe PMC"} xref: Reaxys:1209788 {source="Reaxys"} xref: Wikipedia:Adipic_acid is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H10O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H10O4/c7-5(8)3-1-2-4-6(9)10/h1-4H2,(H,7,8)(H,9,10)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WNLRTRBMVRJNCN-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "146.14120" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "146.05791" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)CCCCC(O)=O" xsd:string [Term] id: CHEBI:30839 name: orotate namespace: chebi_ontology alt_id: CHEBI:14698 alt_id: CHEBI:25719 subset: 3_STAR synonym: "2,6-dioxo-1,2,3,6-tetrahydropyrimidine-4-carboxylate" EXACT IUPAC_NAME [IUPAC] synonym: "orotate" EXACT [UniProt] xref: Beilstein:3651747 {source="Beilstein"} xref: CAS:73-97-2 {source="Beilstein"} xref: Gmelin:464718 {source="Gmelin"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H3N2O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H4N2O4/c8-3-1-2(4(9)10)6-5(11)7-3/h1H,(H,9,10)(H2,6,7,8,11)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PXQPEWDEAKTCGB-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "155.08830" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "155.00983" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-]C(=O)c1cc(=O)[nH]c(=O)[nH]1" xsd:string [Term] id: CHEBI:30844 name: hydroxymalonate(1-) namespace: chebi_ontology subset: 3_STAR synonym: "carboxy(hydroxy)acetate" EXACT IUPAC_NAME [IUPAC] is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H3O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H4O5/c4-1(2(5)6)3(7)8/h1,4H,(H,5,6)(H,7,8)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ROBFUDYVXSDBQM-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "119.05292" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "118.99860" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(C(O)=O)C([O-])=O" xsd:string [Term] id: CHEBI:30854 name: indole-3-acetate namespace: chebi_ontology alt_id: CHEBI:14447 alt_id: CHEBI:14452 alt_id: CHEBI:24801 def: "An indol-3-yl carboxylic acid anion that is the conjugate base of indole-3-acetic acid." [] subset: 3_STAR synonym: "(indol-3-yl)acetate" RELATED [UniProt] synonym: "1H-indol-3-ylacetate" EXACT IUPAC_NAME [IUPAC] synonym: "2-(indol-3-yl)ethanoate" RELATED [ChEBI] xref: Beilstein:3906817 {source="Beilstein"} xref: Gmelin:329972 {source="Gmelin"} xref: Reaxys:3906817 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H8NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H9NO2/c12-10(13)5-7-6-11-9-4-2-1-3-8(7)9/h1-4,6,11H,5H2,(H,12,13)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SEOVTRFCIGRIMH-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "174.17660" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "174.05605" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-]C(=O)Cc1c[nH]c2ccccc12" xsd:string [Term] id: CHEBI:30887 name: isocitric acid namespace: chebi_ontology alt_id: CHEBI:24886 alt_id: CHEBI:5998 def: "A tricarboxylic acid that is propan-1-ol with a hydrogen at each of the 3 carbon positions replaced by a carboxy group." [] subset: 3_STAR synonym: "1-Hydroxypropane-1,2,3-tricarboxylic acid" RELATED [KEGG_COMPOUND] synonym: "1-hydroxypropane-1,2,3-tricarboxylic acid" EXACT IUPAC_NAME [IUPAC] synonym: "1-Hydroxytricarballylic acid" RELATED [KEGG_COMPOUND] synonym: "3-carboxy-2,3-dideoxypentaric acid" EXACT IUPAC_NAME [IUPAC] synonym: "Isocitric acid" EXACT [KEGG_COMPOUND] xref: Beilstein:1727945 {source="Beilstein"} xref: CAS:320-77-4 {source="KEGG COMPOUND"} xref: CAS:320-77-4 {source="ChemIDplus"} xref: DrugBank:DB01727 xref: ECMDB:ECMDB04088 xref: HMDB:HMDB0000193 xref: KEGG:C00311 xref: KNApSAcK:C00001188 xref: MetaCyc:Isocitrate xref: PMID:17439666 {source="Europe PMC"} xref: PMID:23989918 {source="Europe PMC"} xref: PMID:24702026 {source="Europe PMC"} xref: Reaxys:1727945 {source="Reaxys"} xref: Wikipedia:Isocitric_acid xref: YMDB:YMDB00026 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H8O7" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H8O7/c7-3(8)1-2(5(10)11)4(9)6(12)13/h2,4,9H,1H2,(H,7,8)(H,10,11)(H,12,13)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ODBLHEXUDAPZAU-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "192.12352" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "192.02700" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(C(CC(O)=O)C(O)=O)C(O)=O" xsd:string [Term] id: CHEBI:3090 name: bicalutamide namespace: chebi_ontology alt_id: CHEBI:91617 def: "A racemate comprising of equal amounts of (R)-bicalutamide and (S)-bicalutamide. It is an oral non-steroidal antiandrogen used in the treatment of prostate cancer and hirsutism." [] subset: 3_STAR synonym: "(+-)-bicalutamide" RELATED [ChEBI] synonym: "(RS)-4'-cyano-alpha',alpha',alpha',-trifluoro-3-(4-fluorophenylsulphonyl)-2-hydroxy-2-methylpropiono-m-toluidide" RELATED [ChEBI] synonym: "(RS)-bicalutamide" RELATED [ChEBI] synonym: "Bicadex" RELATED BRAND_NAME [ChEBI] synonym: "Bical" RELATED BRAND_NAME [ChEBI] synonym: "Bicalox" RELATED BRAND_NAME [ChEBI] synonym: "bicalutamida" RELATED INN [WHO_MedNet] synonym: "bicalutamide" RELATED INN [WHO_MedNet] synonym: "bicalutamidum" RELATED INN [WHO_MedNet] synonym: "Bicamide" RELATED BRAND_NAME [ChEBI] synonym: "Bicatlon" RELATED BRAND_NAME [ChEBI] synonym: "Bicusan" RELATED BRAND_NAME [ChEBI] synonym: "Binabic" RELATED BRAND_NAME [ChEBI] synonym: "Bypro" RELATED BRAND_NAME [ChEBI] synonym: "Calumid" RELATED BRAND_NAME [ChEBI] synonym: "Calutide" RELATED BRAND_NAME [LINCS] synonym: "Calutol" RELATED BRAND_NAME [ChEBI] synonym: "Casodex" RELATED BRAND_NAME [DrugBank] synonym: "Cosudex" RELATED BRAND_NAME [LINCS] synonym: "ICI 176,334" RELATED [ChemIDplus] synonym: "ICI 176334" RELATED [ChemIDplus] synonym: "ICI-176334" RELATED [DrugBank] synonym: "Kalumid" RELATED BRAND_NAME [LINCS] synonym: "Ormandyl" RELATED BRAND_NAME [ChEBI] synonym: "rac-N-[4-cyano-3-(trifluoromethyl)phenyl]-3-[(4-fluorophenyl)sulfonyl]-2-hydroxy-2-methylpropanamide" EXACT IUPAC_NAME [IUPAC] synonym: "racemic bicalutamide" RELATED [ChEBI] xref: Beilstein:5364666 {source="Beilstein"} xref: CAS:90357-06-5 {source="NIST Chemistry WebBook"} xref: CAS:90357-06-5 {source="ChemIDplus"} xref: Drug_Central:367 {source="DrugCentral"} xref: DrugBank:DB01128 xref: HMDB:HMDB0015260 xref: KEGG:C08160 xref: KEGG:D00961 xref: LINCS:LSM-1437 xref: MeSH:C053541 xref: NCIt:C1599 xref: Patent:EP100172 xref: Patent:US4636505 xref: PMID:11915584 {source="Europe PMC"} xref: PMID:12015321 {source="Europe PMC"} xref: PMID:12017896 {source="Europe PMC"} xref: PMID:12421104 {source="Europe PMC"} xref: PMID:12959312 {source="Europe PMC"} xref: PMID:15509184 {source="Europe PMC"} xref: PMID:17313204 {source="Europe PMC"} xref: PMID:18062751 {source="Europe PMC"} xref: PMID:19194583 {source="Europe PMC"} xref: PMID:23527766 {source="Europe PMC"} xref: PMID:30784326 {source="Europe PMC"} xref: PMID:31099426 {source="Europe PMC"} xref: Reaxys:5364666 {source="Reaxys"} xref: SNOMEDCT:108766001 xref: SNOMEDCT:386908000 xref: Wikipedia:Bicalutamide is_a: EFO:0004417 ! amide relationship: has_role CHEBI:35610 ! antineoplastic agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H14F4N2O4S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "430.370" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "430.06104" xsd:string [Term] id: CHEBI:30911 name: glucitol namespace: chebi_ontology alt_id: CHEBI:15093 alt_id: CHEBI:26724 alt_id: CHEBI:26726 alt_id: CHEBI:33795 alt_id: CHEBI:33796 alt_id: CHEBI:9201 subset: 3_STAR synonym: "glucitol" EXACT IUPAC_NAME [IUPAC] synonym: "gulitol" RELATED [ChEBI] synonym: "rel-(2R,3R,4R,5S)-hexane-1,2,3,4,5,6-hexol" RELATED [IUPAC] synonym: "Sorbitol" RELATED [KEGG_COMPOUND] xref: Beilstein:1721909 {source="Beilstein"} xref: Gmelin:83165 {source="Gmelin"} xref: Wikipedia:Sorbitol is_a: CHEBI:16646 ! carbohydrate property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H14O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "182.172" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "182.07904" xsd:string [Term] id: CHEBI:3092 name: bicuculline namespace: chebi_ontology def: "A benzylisoquinoline alkaloid that is 6-methyl-5,6,7,8-tetrahydro[1,3]dioxolo[4,5-g]isoquinoline which is substituted at the 5-pro-S position by a (6R)-8-oxo-6,8-dihydrofuro[3,4-e][1,3]benzodioxol-6-yl group. A light-sensitive competitive antagonist of GABAA receptors. It was originally identified in 1932 in plant alkaloid extracts and has been isolated from Dicentra cucullaria, Adlumia fungosa, Fumariaceae, and several Corydalis species." [] subset: 3_STAR synonym: "(6R)-6-[(5S)-6-methyl-5,6,7,8-tetrahydro[1,3]dioxolo[4,5-g]isoquinolin-5-yl]furo[3,4-e][1,3]benzodioxol-8(6H)-one" EXACT IUPAC_NAME [IUPAC] synonym: "Bicculine" RELATED [ChemIDplus] synonym: "Bicucullin" RELATED [ChemIDplus] synonym: "Bicuculline" EXACT [KEGG_COMPOUND] synonym: "d-Bicuculline" RELATED [ChemIDplus] xref: Beilstein:98786 {source="Beilstein"} xref: CAS:485-49-4 {source="ChemIDplus"} xref: CAS:485-49-4 {source="KEGG COMPOUND"} xref: KEGG:C09364 xref: KNApSAcK:C00001820 xref: MeSH:D001640 xref: PMID:27579770 {source="Europe PMC"} xref: PMID:29137474 {source="Europe PMC"} xref: PMID:29949743 {source="Europe PMC"} xref: PMID:30858801 {source="Europe PMC"} xref: Wikipedia:Bicuculline is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:27026 ! toxin property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H17NO6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H17NO6/c1-21-5-4-10-6-14-15(25-8-24-14)7-12(10)17(21)18-11-2-3-13-19(26-9-23-13)16(11)20(22)27-18/h2-3,6-7,17-18H,4-5,8-9H2,1H3/t17-,18+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IYGYMKDQCDOMRE-ZWKOTPCHSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "367.35210" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "367.10559" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]1(OC(=O)c2c3OCOc3ccc12)[C@@]1([H])N(C)CCc2cc3OCOc3cc12" xsd:string [Term] id: CHEBI:30920 name: 3-hydroxy-3-methylglutarate(1-) namespace: chebi_ontology def: "A dicarboxylic acid monoanion resulting from the removal of a proton from one of the carboxylic acid groups of 3-hydroxy-3-methylglutaric acid." [] subset: 3_STAR synonym: "4-carboxy-3-hydroxy-3-methylbutanoate" EXACT IUPAC_NAME [IUPAC] is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H9O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H10O5/c1-6(11,2-4(7)8)3-5(9)10/h11H,2-3H2,1H3,(H,7,8)(H,9,10)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NPOAOTPXWNWTSH-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "161.13270" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "161.04555" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(O)(CC(O)=O)CC([O-])=O" xsd:string [Term] id: CHEBI:30921 name: glutarate(2-) namespace: chebi_ontology alt_id: CHEBI:14322 alt_id: CHEBI:24327 def: "A dicarboxylic acid dianion obtained by deprotonation of both the carboxy groups of glutaric acid." [] subset: 3_STAR synonym: "glutarate" RELATED [UniProt] synonym: "pentanedioate" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:3904695 {source="Beilstein"} xref: Gmelin:240388 {source="Gmelin"} xref: Reaxys:3904695 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H6O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H8O4/c6-4(7)2-1-3-5(8)9/h1-3H2,(H,6,7)(H,8,9)/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JFCQEDHGNNZCLN-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "130.09874" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "130.02771" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-]C(=O)CCCC([O-])=O" xsd:string [Term] id: CHEBI:31228 name: apomorphine hydrochloride namespace: chebi_ontology subset: 3_STAR synonym: "(6aR)-5,6,6a,7-Tetrahydro-6-methyl-4H-dibenzo(de,g)chinolin-10,11-diol hydrochlorid" RELATED [ChemIDplus] synonym: "6abeta-Aporphine-10,11-diol hydrochloride hemihydrate" RELATED [ChemIDplus] synonym: "Apmorphine hydrochloride hemihydrate" RELATED [ChemIDplus] synonym: "Apomorphin hydrochlorid wasser (2/1)" RELATED [ChemIDplus] synonym: "Apomorphine HCl" RELATED [ChemIDplus] synonym: "bis(6abeta-aporphine-10,11-diol) dihydrochloride hydrate" EXACT IUPAC_NAME [IUPAC] xref: CAS:41372-20-7 {source="ChemIDplus"} xref: ChemIDplus:41372-20-7 "CAS Registry Number" xref: DrugBank:DB00714 "DrugBank" xref: DrugBank:DB00714 xref: KEGG DRUG:D02004 "KEGG DRUG" xref: KEGG:D02004 xref: NCIt:C47400 xref: SNOMEDCT:74950007 is_a: EFO:0004415 ! ionic salt relationship: has_role EFO:0004366 ! social desirability property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "(C17H17NO2)2.2HCl.H2O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C34H38Cl2N2O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/2C17H17NO2.2ClH.H2O/c2*1-18-8-7-10-3-2-4-12-15(10)13(18)9-11-5-6-14(19)17(20)16(11)12;;;/h2*2-6,13,19-20H,7-9H2,1H3;2*1H;1H2/t2*13-;;;/m11.../s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CXWQXGNFZLHLHQ-DPFCLETOSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "625.58140" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "624.21578" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H+].[H+].O.[Cl-].[Cl-].[H][C@]12Cc3ccc(O)c(O)c3-c3cccc(CCN1C)c23.[H][C@]12Cc3ccc(O)c(O)c3-c3cccc(CCN1C)c23" xsd:string [Term] id: CHEBI:31355 name: carboplatin namespace: chebi_ontology alt_id: CHEBI:76407 def: "A platinum coordination entity with cis square-planar geometry in which platinum(II) is coordinated to two ammonia ligands and a bidentate cyclobutane-1,1-dicarboxylate ligand." [] subset: 3_STAR synonym: "(SP-4-2)-diammine[cyclobutane-1,1-dicarboxylato(2-)-kappa(2)O,O']platinum" EXACT IUPAC_NAME [IUPAC] synonym: "Carboplatin" EXACT [KEGG_DRUG] synonym: "carboplatin" RELATED INN [WHO_MedNet] synonym: "carboplatine" RELATED INN [WHO_MedNet] synonym: "carboplatino" RELATED INN [WHO_MedNet] synonym: "carboplatinum" RELATED INN [WHO_MedNet] synonym: "cbdca" RELATED [ChemIDplus] synonym: "cis-(1,1-cyclobutanedicarboxylato)diammineplatinum(II)" RELATED [ChemIDplus] synonym: "cis-diammine(1,1-cyclobutanedicarboxylato)platinum" RELATED [ChemIDplus] synonym: "cis-diammine(1,1-cyclobutanedicarboxylato)platinum(II)" RELATED [ChemIDplus] synonym: "Paraplatin" RELATED [ChemIDplus] xref: CAS:41575-94-4 {source="ChemIDplus"} xref: CAS:41575-94-4 {source="KEGG DRUG"} xref: DrugBank:DB00958 xref: Gmelin:1044703 {source="Gmelin"} xref: Gmelin:51428 {source="Gmelin"} xref: HMDB:HMDB0015093 xref: KEGG:D01363 xref: LINCS:LSM-4265 xref: MeSH:D016190 xref: NCIt:C1282 xref: Patent:DE2329485 xref: PDBeChem:QPT xref: PMID:11666286 {source="Europe PMC"} xref: PMID:14568240 {source="Europe PMC"} xref: PMID:15896850 {source="Europe PMC"} xref: PMID:16411667 {source="Europe PMC"} xref: PMID:17180231 {source="Europe PMC"} xref: PMID:17497898 {source="Europe PMC"} xref: PMID:17655933 {source="Europe PMC"} xref: PMID:18336396 {source="Europe PMC"} xref: PMID:1855275 {source="Europe PMC"} xref: PMID:19774597 {source="Europe PMC"} xref: PMID:21629880 {source="Europe PMC"} xref: PMID:22525758 {source="Europe PMC"} xref: PMID:23143236 {source="Europe PMC"} xref: PMID:23275170 {source="Europe PMC"} xref: PMID:23396873 {source="Europe PMC"} xref: PMID:24121332 {source="Europe PMC"} xref: PMID:25195879 {source="Europe PMC"} xref: PMID:25195881 {source="Europe PMC"} xref: PMID:26000441 {source="Europe PMC"} xref: PMID:26239545 {source="Europe PMC"} xref: PMID:26327386 {source="Europe PMC"} xref: PMID:26893290 {source="Europe PMC"} xref: PMID:28511060 {source="Europe PMC"} xref: PMID:29632935 {source="Europe PMC"} xref: PMID:31567140 {source="Europe PMC"} xref: PMID:31930743 {source="Europe PMC"} xref: PMID:32072678 {source="Europe PMC"} xref: PMID:32487607 {source="Europe PMC"} xref: PMID:32579504 {source="Europe PMC"} xref: PMID:33052033 {source="Europe PMC"} xref: PMID:33324858 {source="Europe PMC"} xref: PMID:33542435 {source="Europe PMC"} xref: PMID:33716231 {source="Europe PMC"} xref: PMID:33807309 {source="Europe PMC"} xref: PMID:33814494 {source="Europe PMC"} xref: PMID:33829940 {source="Europe PMC"} xref: PMID:33885718 {source="Europe PMC"} xref: PMID:9654475 {source="Europe PMC"} xref: Reaxys:11327310 {source="Reaxys"} xref: Reaxys:11335262 {source="Reaxys"} xref: Reaxys:15523471 {source="Reaxys"} xref: SNOMEDCT:108759002 xref: SNOMEDCT:386905002 xref: Wikipedia:Carboplatin is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:35610 ! antineoplastic agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H12N2O4Pt" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H6O4Pt.2H3N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H8O4.2H3N.Pt/c7-4(8)6(5(9)10)2-1-3-6;;;/h1-3H2,(H,7,8)(H,9,10);2*1H3;/q;;;+2/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OLESAACUTLOWQZ-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "371.256" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "371.04450" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][N]([H])([H])[Pt]1(OC(=O)C2(CCC2)C(=O)O1)[N]([H])([H])[H]" xsd:string [Term] id: CHEBI:3139 name: bleomycin A2 namespace: chebi_ontology alt_id: CHEBI:165316 alt_id: CHEBI:357107 alt_id: CHEBI:41102 alt_id: CHEBI:653800 subset: 3_STAR synonym: "(betaR)-N(alpha)-{[6-amino-2-((1S)-3-amino-1-{[(2S)-2,3-diamino-3-oxopropyl]amino}-3-oxopropyl)-5-methylpyrimidin-4-yl]carbonyl}-beta-{2-O-[3-O-(aminocarbonyl)-alpha-D-mannopyranosyl]-alpha-L-gulopyranosyloxy}-N-[(1R,2S,3S)-5-({(1S,2R)-1-[({2-[4-({[3-(dimethylsulfonio)propyl]amino}carbonyl)-2,4'-bi-1,3-thiazol-2'-yl]ethyl}amino)carbonyl]-2-hydroxypropyl}amino)-3-hydroxy-4-methyl-5-oxopentan-2-yl]-L-histidinamide" EXACT IUPAC_NAME [IUPAC] synonym: "Bleomycin" RELATED [KEGG_COMPOUND] synonym: "Bleomycin" RELATED [ChEMBL] synonym: "BLEOMYCIN A2" EXACT [PDBeChem] synonym: "Bleomycin A2" EXACT [KEGG_COMPOUND] synonym: "bleomycin A2" EXACT [ChemIDplus] synonym: "bleomycin A2" EXACT [ChEMBL] synonym: "N(1)-[3-(dimethylsulfonio)propyl]bleomycinamide" RELATED [ChemIDplus] xref: Beilstein:4379083 {source="Beilstein"} xref: CAS:11056-06-7 {source="KEGG COMPOUND"} xref: CAS:11116-31-7 {source="ChemIDplus"} xref: CAS:11116-31-7 {source="KEGG COMPOUND"} xref: Gmelin:1667354 {source="Gmelin"} xref: KEGG:C06854 xref: KEGG:C15773 xref: KEGG:D07535 xref: KNApSAcK:C00018738 xref: NCIt:C311 xref: PDBeChem:BLM xref: PMID:12477361 {source="ChEMBL"} xref: Wikipedia:Bleomycin is_a: CHEBI:22907 ! bleomycin relationship: has_role CHEBI:33281 ! antimicrobial agent property_value: http://purl.obolibrary.org/obo/chebi/charge "+1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C55H84N17O21S3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C55H83N17O21S3/c1-20-33(69-46(72-44(20)58)25(12-31(57)76)64-13-24(56)45(59)82)50(86)71-35(41(26-14-61-19-65-26)91-54-43(39(80)37(78)29(15-73)90-54)92-53-40(81)42(93-55(60)88)38(79)30(16-74)89-53)51(87)66-22(3)36(77)21(2)47(83)70-34(23(4)75)49(85)63-10-8-32-67-28(18-94-32)52-68-27(17-95-52)48(84)62-9-7-11-96(5)6/h14,17-19,21-25,29-30,34-43,53-54,64,73-75,77-81H,7-13,15-16,56H2,1-6H3,(H13-,57,58,59,60,61,62,63,65,66,69,70,71,72,76,82,83,84,85,86,87,88)/p+1/t21-,22+,23+,24-,25-,29-,30+,34-,35-,36-,37+,38+,39-,40-,41-,42-,43-,53+,54-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OYVAGSVQBOHSSS-UAPAGMARSA-O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "1415.55544" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "1414.51843" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@](C)(NC(=O)[C@@]([H])(NC(=O)c1nc(nc(N)c1C)[C@H](CC(N)=O)NC[C@H](N)C(N)=O)[C@@]([H])(O[C@@H]1O[C@@H](CO)[C@@H](O)[C@H](O)[C@@H]1O[C@H]1O[C@H](CO)[C@@H](O)[C@H](OC(N)=O)[C@@H]1O)c1c[nH]cn1)[C@@H](O)[C@H](C)C(=O)N[C@]([H])(C(=O)NCCc1nc(cs1)-c1nc(cs1)C(=O)NCCC[S+](C)C)[C@@]([H])(C)O" xsd:string [Term] id: CHEBI:31593 name: fasudil hydrochloride namespace: chebi_ontology def: "A hydrochloride obtained by reaction of fasudil with one equivalent of hydrochloric acid." [] subset: 3_STAR synonym: "1-(5-isoquinolinesulfonyl)homopiperazine hydrochloride" RELATED [ChEBI] synonym: "4-(isoquinolin-5-ylsulfonyl)-1,4-diazepan-1-ium chloride" RELATED [IUPAC] synonym: "5-(1,4-diazepan-1-ylsulfonyl)isoquinoline hydrochloride" EXACT IUPAC_NAME [IUPAC] synonym: "AT 877 hydrochloride" RELATED [ChemIDplus] synonym: "fasudil HCl" RELATED [DrugBank] synonym: "HA 1077 hydrochloride" RELATED [ChemIDplus] synonym: "hexahydro-1-(5-isoquinolinylsulfonyl)-1H-1,4-diazepine monohydrochloride" RELATED [ChemIDplus] xref: CAS:105628-07-7 {source="ChemIDplus"} xref: DrugBank:DBSALT002399 xref: KEGG:D01840 xref: Patent:CN101863880 xref: PMID:16998274 {source="Europe PMC"} xref: PMID:17230085 {source="Europe PMC"} xref: PMID:17461215 {source="Europe PMC"} xref: PMID:21483106 {source="Europe PMC"} xref: PMID:21483110 {source="Europe PMC"} xref: PMID:21970106 {source="Europe PMC"} xref: PMID:23558879 {source="Europe PMC"} xref: PMID:23724655 {source="Europe PMC"} xref: PMID:24470347 {source="Europe PMC"} xref: PMID:24793642 {source="Europe PMC"} xref: PMID:25337198 {source="Europe PMC"} xref: PMID:25366618 {source="Europe PMC"} xref: PMID:25366640 {source="Europe PMC"} xref: PMID:25397949 {source="Europe PMC"} xref: PMID:26120273 {source="Europe PMC"} xref: PMID:26554343 {source="Europe PMC"} xref: PMID:26706682 {source="Europe PMC"} xref: PMID:27160814 {source="Europe PMC"} xref: PMID:29807069 {source="Europe PMC"} xref: PMID:30036829 {source="Europe PMC"} xref: PMID:30327749 {source="Europe PMC"} xref: PMID:31183235 {source="Europe PMC"} xref: PMID:31592086 {source="Europe PMC"} xref: PMID:32383777 {source="Europe PMC"} is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C14H17N3O2S.ClH" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C14H17N3O2S.HCl" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C14H18ClN3O2S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C14H17N3O2S.ClH/c18-20(19,17-9-2-6-15-8-10-17)14-4-1-3-12-11-16-7-5-13(12)14;/h1,3-5,7,11,15H,2,6,8-10H2;1H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LFVPBERIVUNMGV-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "327.830" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "327.08083" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cl.O=S(=O)(N1CCCNCC1)C1=CC=CC2=C1C=CN=C2" xsd:string [Term] id: CHEBI:31604 name: ferric ammonium citrate namespace: chebi_ontology def: "A mixture of indefinite composition that contains ferric and ammonium cations and citrate(3-) anions, ferric ammonium citrate may be obtained as red crystals or a brownish yellow powder or as green crystals or powder. It is added to foods as an acidity regulator and anticaking agent. It is also used as a positive oral contrast agent in magnetic resonance imaging, and was formerly administered orally as a source of iron for the treatment of iron-deficiency anaemia." [] subset: 3_STAR synonym: "ammonium ferric citrate" RELATED [ChemIDplus] synonym: "ammonium iron(III) citrate" RELATED [ChEBI] synonym: "E381" RELATED [ChEBI] synonym: "FerriSeltz" RELATED BRAND_NAME [KEGG_DRUG] xref: AGR:IND21975024 {source="Europe PMC"} xref: CAS:1185-57-5 {source="ChemIDplus"} xref: DrugBank:DB09501 xref: FooDB:FDB014633 xref: KEGG DRUG:1185-57-5 xref: KEGG DRUG:D01644 xref: KEGG:D01644 xref: MeSH:C013531 xref: MetaCyc:CPD-19639 xref: PMID:10394873 {source="Europe PMC"} xref: PMID:11050639 {source="Europe PMC"} xref: PMID:12460440 {source="Europe PMC"} xref: PMID:15009675 {source="Europe PMC"} xref: PMID:16182396 {source="Europe PMC"} xref: PMID:17478951 {source="Europe PMC"} xref: PMID:18509218 {source="Europe PMC"} xref: PMID:18849857 {source="Europe PMC"} xref: PMID:25006066 {source="Europe PMC"} xref: PMID:25721887 {source="Europe PMC"} xref: PMID:26224043 {source="Europe PMC"} xref: PMID:27898902 {source="Europe PMC"} xref: PMID:28578696 {source="Europe PMC"} xref: PMID:29619244 {source="Europe PMC"} xref: PMID:29890135 {source="Europe PMC"} xref: PMID:31521986 {source="Europe PMC"} xref: PMID:31850663 {source="Europe PMC"} xref: PMID:32587797 {source="Europe PMC"} xref: PMID:32871372 {source="Europe PMC"} xref: PMID:33532991 {source="Europe PMC"} xref: PMID:33746607 {source="Europe PMC"} xref: PMID:33791276 {source="Europe PMC"} xref: PMID:8626911 {source="Europe PMC"} xref: PMID:9657901 {source="Europe PMC"} xref: PMID:9847611 {source="Europe PMC"} xref: Reaxys:14508930 {source="Reaxys"} xref: SNOMEDCT:396055005 xref: SNOMEDCT:418227002 xref: Wikipedia:Ammonium_ferric_citrate is_a: EFO:0004415 ! ionic salt [Term] id: CHEBI:31638 name: fulvestrant namespace: chebi_ontology alt_id: CHEBI:87729 def: "A 3-hydroxy steroid that is 17beta-estradiol in which the 7alpha hydrogen has been replaced by a nonyl group in which one of the hydrogens of the terminal methyl has been replaced by a (4,4,5,5,5-pentafluoropentyl)sulfinyl group. An estrogen receptor antagonist, it is used in the treatment of breast cancer." [] subset: 3_STAR synonym: "(7alpha,17beta)-7-{9-[(4,4,5,5,5-pentafluoropentyl)sulfinyl]nonyl}estra-1(10),2,4-triene-3,17-diol" RELATED [IUPAC] synonym: "7alpha-{9-[(4,4,5,5,5-pentafluoropentyl)sulfinyl]nonyl}estra-1(10),2,4-triene-3,17beta-diol" EXACT IUPAC_NAME [IUPAC] synonym: "Faslodex" RELATED BRAND_NAME [ChemIDplus] synonym: "fulvestrant" RELATED INN [KEGG_DRUG] synonym: "fulvestrant" RELATED INN [WHO_MedNet] synonym: "fulvestrantum" RELATED INN [WHO_MedNet] synonym: "ICI 182780" RELATED [ChemIDplus] synonym: "ICI-182780" RELATED [ChemIDplus] xref: CAS:129453-61-8 {source="ChemIDplus"} xref: CAS:129453-61-8 {source="KEGG DRUG"} xref: Drug_Central:1255 {source="DrugCentral"} xref: DrugBank:DB00947 xref: KEGG:D01161 xref: LINCS:LSM-6504 xref: MeSH:C070081 xref: NCIt:C1379 xref: PMID:18683044 {source="Europe PMC"} xref: PMID:19369092 {source="Europe PMC"} xref: PMID:21319872 {source="Europe PMC"} xref: PMID:21699443 {source="Europe PMC"} xref: PMID:25720568 {source="SUBMITTER"} xref: SNOMEDCT:385519002 xref: SNOMEDCT:404845006 xref: Wikipedia:Fulvestrant is_a: CHEBI:35341 ! steroid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C32H47F5O3S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C32H47F5O3S/c1-30-17-15-26-25-12-11-24(38)21-23(25)20-22(29(26)27(30)13-14-28(30)39)10-7-5-3-2-4-6-8-18-41(40)19-9-16-31(33,34)32(35,36)37/h11-12,21-22,26-29,38-39H,2-10,13-20H2,1H3/t22-,26-,27+,28+,29-,30+,41?/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VWUXBMIQPBEWFH-WCCTWKNTSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "606.773" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "606.31661" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C=1C=C(C=C2C1[C@]3(CC[C@@]4([C@H](CC[C@]4([C@@]3([C@@H](C2)CCCCCCCCCS(=O)CCCC(C(F)(F)F)(F)F)[H])[H])O)C)[H])O" xsd:string [Term] id: CHEBI:3165 name: bradykinin namespace: chebi_ontology def: "A linear nonapeptide messenger belonging to the kinin group of proteins, with amino acid sequence RPPGFSPFR. Enzymatically produced from kallidin in the blood, it is a powerful vasodilator that causes smooth muscle contraction, and may mediate inflammation." [] subset: 3_STAR synonym: "Arg-Pro-Pro-Gly-Phe-Ser-Pro-Phe-Arg" RELATED [ChEBI] synonym: "BK" RELATED [ChemIDplus] synonym: "L-Arg-L-Pro-L-Pro-Gly-L-Phe-L-Ser-L-Pro-L-Phe-L-Arg" RELATED [ChEBI] synonym: "L-arginyl-L-prolyl-L-prolylglycyl-L-phenylalanyl-L-seryl-L-prolyl-L-phenylalanyl-L-arginine" EXACT IUPAC_NAME [IUPAC] synonym: "L-bradykinin" RELATED [ChEBI] synonym: "RPPGFSPFR" RELATED [ChEBI] xref: CAS:58-82-2 {source="ChemIDplus"} xref: PMID:11799074 {source="Europe PMC"} xref: PMID:11975815 {source="Europe PMC"} xref: PMID:13446366 {source="Europe PMC"} xref: PMID:13811230 {source="Europe PMC"} xref: PMID:14597148 {source="Europe PMC"} xref: PMID:15105283 {source="Europe PMC"} xref: PMID:16680069 {source="Europe PMC"} xref: PMID:18127230 {source="Europe PMC"} xref: PMID:27318425 {source="Europe PMC"} xref: PMID:27328010 {source="Europe PMC"} xref: PMID:27432758 {source="Europe PMC"} xref: PMID:27445816 {source="Europe PMC"} xref: PMID:7859389 {source="Europe PMC"} xref: PMID:8723398 {source="Europe PMC"} xref: PMID:9403361 {source="Europe PMC"} xref: Reaxys:24162492 {source="Reaxys"} xref: Reaxys:2801232 {source="Reaxys"} xref: Wikipedia:Bradykinin is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C50H73N15O11" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C50H73N15O11/c51-32(16-7-21-56-49(52)53)45(72)65-25-11-20-39(65)47(74)64-24-9-18-37(64)43(70)58-28-40(67)59-34(26-30-12-3-1-4-13-30)41(68)62-36(29-66)46(73)63-23-10-19-38(63)44(71)61-35(27-31-14-5-2-6-15-31)42(69)60-33(48(75)76)17-8-22-57-50(54)55/h1-6,12-15,32-39,66H,7-11,16-29,51H2,(H,58,70)(H,59,67)(H,60,69)(H,61,71)(H,62,68)(H,75,76)(H4,52,53,56)(H4,54,55,57)/t32-,33-,34-,35-,36-,37-,38-,39-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QXZGBUJJYSLZLT-FDISYFBBSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "1060.20850" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "1059.56140" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "N[C@@H](CCCNC(N)=N)C(=O)N1CCC[C@H]1C(=O)N1CCC[C@H]1C(=O)NCC(=O)N[C@@H](Cc1ccccc1)C(=O)N[C@@H](CO)C(=O)N1CCC[C@H]1C(=O)N[C@@H](Cc1ccccc1)C(=O)N[C@@H](CCCNC(N)=N)C(O)=O" xsd:string [Term] id: CHEBI:31690 name: imatinib methanesulfonate namespace: chebi_ontology def: "A methanesulfonate (mesylate) salt that is the monomesylate salt of imatinib. Used for treatment of chronic myelogenous leukemia and gastrointestinal stromal tumours." [] subset: 3_STAR synonym: "4-[(4-methylpiperazin-1-yl)methyl]-N-{4-methyl-3-[(4-pyridin-3-ylpyrimidin-2-yl)amino]phenyl}benzamide methanesulfonate" EXACT IUPAC_NAME [IUPAC] synonym: "Gleevec" RELATED BRAND_NAME [DrugBank] synonym: "Glivec" RELATED BRAND_NAME [DrugBank] synonym: "imatinib mesilate" RELATED INN [DrugBank] synonym: "imatinib mesylate" RELATED [KEGG_DRUG] synonym: "imatinib methansulfonate" RELATED [DrugBank] synonym: "imatinib monomesylate" RELATED [ChEBI] xref: Beilstein:10229624 {source="Beilstein"} xref: CAS:220127-57-1 {source="KEGG DRUG"} xref: CAS:220127-57-1 {source="ChemIDplus"} xref: DrugBank:DB00619 xref: HMDB:HMDB0014757 xref: KEGG:D01441 xref: Patent:RU2365587 xref: Patent:WO2004106326 xref: Patent:WO2011161689 xref: Patent:WO9903854 xref: PMID:12047970 {source="Europe PMC"} xref: PMID:12616857 {source="Europe PMC"} xref: PMID:12669406 {source="Europe PMC"} xref: PMID:12975485 {source="Europe PMC"} xref: PMID:14760091 {source="Europe PMC"} xref: PMID:15059881 {source="Europe PMC"} xref: PMID:15161340 {source="Europe PMC"} xref: PMID:15206509 {source="Europe PMC"} xref: PMID:15250677 {source="Europe PMC"} xref: PMID:15601563 {source="Europe PMC"} xref: PMID:15727903 {source="Europe PMC"} xref: PMID:16570351 {source="Europe PMC"} xref: PMID:16805961 {source="Europe PMC"} xref: PMID:16835496 {source="Europe PMC"} xref: PMID:17212133 {source="Europe PMC"} xref: PMID:18422477 {source="Europe PMC"} xref: PMID:19073506 {source="Europe PMC"} xref: PMID:19258052 {source="Europe PMC"} xref: PMID:19508953 {source="Europe PMC"} xref: PMID:19542718 {source="Europe PMC"} xref: PMID:19568828 {source="Europe PMC"} xref: PMID:21084823 {source="Europe PMC"} xref: PMID:21333826 {source="Europe PMC"} xref: PMID:23462796 {source="Europe PMC"} xref: Reaxys:10229624 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C29H31N7O.CH4O3S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C30H35N7O4S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C29H31N7O.CH4O3S/c1-21-5-10-25(18-27(21)34-29-31-13-11-26(33-29)24-4-3-12-30-19-24)32-28(37)23-8-6-22(7-9-23)20-36-16-14-35(2)15-17-36;1-5(2,3)4/h3-13,18-19H,14-17,20H2,1-2H3,(H,32,37)(H,31,33,34);1H3,(H,2,3,4)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YLMAHDNUQAMNNX-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "589.70968" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "589.24712" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CS(O)(=O)=O.CN1CCN(CC1)Cc1ccc(cc1)C(=O)Nc1ccc(C)c(Nc2nccc(n2)-c2cccnc2)c1" xsd:string [Term] id: CHEBI:31697 name: indolin-2-one namespace: chebi_ontology def: "An indolinone carrying an oxo group at position 2." [] subset: 3_STAR synonym: "1,3-dihydro-2H-indol-2-one" EXACT IUPAC_NAME [IUPAC] synonym: "1,3-dihydroindol-2-one" RELATED [NIST_Chemistry_WebBook] synonym: "2-indolinone" RELATED [NIST_Chemistry_WebBook] synonym: "2-oxindole" RELATED [ChemIDplus] synonym: "Indolin-2-one" EXACT [KEGG_COMPOUND] synonym: "indolin-2-one" EXACT [UniProt] synonym: "oxindole" RELATED [ChEBI] xref: Beilstein:114692 {source="Beilstein"} xref: CAS:59-48-3 {source="ChemIDplus"} xref: CAS:59-48-3 {source="NIST Chemistry WebBook"} xref: Gmelin:637057 {source="Gmelin"} xref: KEGG:C12312 xref: PMID:24433962 {source="Europe PMC"} xref: PMID:24500796 {source="Europe PMC"} xref: Reaxys:114692 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H7NO" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H7NO/c10-8-5-6-3-1-2-4-7(6)9-8/h1-4H,5H2,(H,9,10)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JYGFTBXVXVMTGB-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "133.14730" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "133.05276" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O=C1Cc2ccccc2N1" xsd:string [Term] id: CHEBI:31746 name: kainic acid namespace: chebi_ontology subset: 3_STAR synonym: "(2S-(2alpha,3beta,4beta))-2-carboxy-4-(1-methylethenyl)-3-pyrrolidineacetic acid" RELATED [ChemIDplus] synonym: "(3S,4R)-3-(carboxymethyl)-4-(prop-1-en-2-yl)-L-proline" EXACT IUPAC_NAME [IUPAC] synonym: "acide kainique" RELATED INN [ChemIDplus] synonym: "acido kainico" RELATED INN [ChemIDplus] synonym: "acidum kainicum" RELATED INN [ChemIDplus] synonym: "alpha- Kainic acid" RELATED [KEGG_COMPOUND] synonym: "alpha-Kainic acid" RELATED [KEGG_COMPOUND] synonym: "digenic acid" RELATED [ChemIDplus] synonym: "Digenin" RELATED [ChemIDplus] synonym: "Digensaeure" RELATED [ChEBI] synonym: "Helminal" RELATED [ChemIDplus] synonym: "Kainic acid" EXACT [KEGG_COMPOUND] synonym: "kainic acid" RELATED INN [ChemIDplus] synonym: "Kainsaeure" RELATED [ChEBI] synonym: "L-alpha-kainic acid" RELATED [ChemIDplus] xref: Beilstein:86660 {source="Beilstein"} xref: CAS:487-79-6 {source="KEGG COMPOUND"} xref: CAS:487-79-6 {source="ChemIDplus"} xref: Drug_Central:3201 {source="DrugCentral"} xref: KEGG:C12819 xref: MeSH:D007608 xref: NCIt:C79132 xref: Patent:GB795750 xref: Patent:US2902492 xref: Patent:US2954384 xref: PDBeChem:KAI is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H15NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H15NO4/c1-5(2)7-4-11-9(10(14)15)6(7)3-8(12)13/h6-7,9,11H,1,3-4H2,2H3,(H,12,13)(H,14,15)/t6-,7+,9-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VLSMHEGGTFMBBZ-OOZYFLPDSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "213.23040" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "213.10011" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(=C)[C@H]1CN[C@@H]([C@H]1CC(O)=O)C(O)=O" xsd:string [Term] id: CHEBI:3179 name: bromobenzene namespace: chebi_ontology def: "The simplest member of the class of bromobenzenes, that is benzene in which a single hydrogen has been substituted by a bromine. A liquid at room temperature (m.p. -30degreeC; b.p.760 156degreeC), it is used as a solvent, particularly for large-scale crystallisations, and for the introduction of phenyl groups in organic synthesis." [] subset: 3_STAR synonym: "Bromobenzene" EXACT [KEGG_COMPOUND] synonym: "bromobenzene" EXACT IUPAC_NAME [IUPAC] synonym: "C6H5Br" RELATED [ChEBI] synonym: "Monobromobenzene" RELATED [ChemIDplus] synonym: "PhBr" RELATED [ChEBI] synonym: "Phenyl bromide" RELATED [ChemIDplus] xref: Beilstein:1236661 {source="Beilstein"} xref: CAS:108-86-1 {source="KEGG COMPOUND"} xref: KEGG:C11036 xref: MetaCyc:BROMOBENZENE xref: PMID:10996478 {source="Europe PMC"} xref: PMID:24318069 {source="Europe PMC"} xref: Reaxys:1236661 {source="Reaxys"} xref: Wikipedia:Bromobenzene is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H5Br" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H5Br/c7-6-4-2-1-3-5-6/h1-5H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QARVLSVVCXYDNA-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "157.00790" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "155.95746" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Brc1ccccc1" xsd:string [Term] id: CHEBI:3182 name: bromocriptine methanesulfonate namespace: chebi_ontology subset: 3_STAR synonym: "(5'alpha)-2-bromo-12'-hydroxy-5'-(2-methylpropyl)-2'-(propan-2-yl)-3',6',18-trioxoergotaman methanesulfonate" EXACT IUPAC_NAME [IUPAC] synonym: "(5'alpha)-2-bromo-12'-hydroxy-5'-isobutyl-2'-isopropyl-3',6',18-trioxoergotaman methanesulfonate" RELATED [IUPAC] synonym: "2-bromo-alpha-ergocryptine mesylate" RELATED [ChemIDplus] synonym: "bromocriptine mesilate" RELATED [KEGG_DRUG] synonym: "bromocriptine mesylate" RELATED [ChemIDplus] synonym: "Parlodel" RELATED BRAND_NAME [KEGG_DRUG] synonym: "Pravidel" RELATED BRAND_NAME [ChemIDplus] xref: Beilstein:6048116 {source="Beilstein"} xref: CAS:22260-51-1 {source="ChemIDplus"} xref: KEGG:D00780 xref: NCIt:C317 xref: NCIt:C51181 xref: SNOMEDCT:272784002 xref: SNOMEDCT:46293006 is_a: CHEBI:24431 ! chemical entity relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C32H40BrN5O5.CH4O3S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C33H44BrN5O8S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C32H40BrN5O5.CH4O3S/c1-16(2)12-24-29(40)37-11-7-10-25(37)32(42)38(24)30(41)31(43-32,17(3)4)35-28(39)18-13-20-19-8-6-9-22-26(19)21(27(33)34-22)14-23(20)36(5)15-18;1-5(2,3)4/h6,8-9,13,16-18,23-25,34,42H,7,10-12,14-15H2,1-5H3,(H,35,39);1H3,(H,2,3,4)/t18-,23-,24+,25+,31-,32+;/m1./s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NOJMTMIRQRDZMT-GSPXQYRGSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "750.70136" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "749.20940" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CS(O)(=O)=O.[H][C@@]12Cc3c(Br)[nH]c4cccc(C1=C[C@H](CN2C)C(=O)N[C@@]1(O[C@]2(O)N([C@@H](CC(C)C)C(=O)N5CCC[C@@]25[H])C1=O)C(C)C)c34" xsd:string [Term] id: CHEBI:31823 name: mercury dichloride namespace: chebi_ontology def: "A mercury coordination entity made up of linear triatomic molecules in which a mercury atom is bonded to two chlorines. Water-soluble, it is highly toxic. Once used in a wide variety of applications, including preserving wood and anatomical specimens, embalming and disinfecting, as an intensifier in photography, as a mordant for rabbit and beaver furs, and freeing gold from lead, its use has markedly declined as less toxic alternatives have been developed." [] subset: 3_STAR synonym: "bichlorure de mercure" RELATED [ChemIDplus] synonym: "chlorure mercurique" RELATED [ChemIDplus] synonym: "ClHgCl" RELATED [ChEBI] synonym: "corrosive mercury chloride" RELATED [ChemIDplus] synonym: "corrosive sublimate" RELATED [ChemIDplus] synonym: "dichloromercury" RELATED [ChemIDplus] synonym: "dichlorure de mercure" RELATED [ChEBI] synonym: "HgCl2" RELATED [IUPAC] synonym: "hydrargyrum bichloratum" RELATED [ChEBI] synonym: "mercuric bichloride" RELATED [ChemIDplus] synonym: "Mercuric chloride" RELATED [KEGG_COMPOUND] synonym: "mercuric chloride" RELATED [ChemIDplus] synonym: "mercury bichloride" RELATED [NIST_Chemistry_WebBook] synonym: "mercury dichloride" EXACT IUPAC_NAME [IUPAC] synonym: "mercury perchloride" RELATED [NIST_Chemistry_WebBook] synonym: "mercury(2+) chloride" EXACT IUPAC_NAME [IUPAC] synonym: "Mercury(II) chloride" RELATED [KEGG_COMPOUND] synonym: "mercury(II) chloride" EXACT IUPAC_NAME [IUPAC] synonym: "perchloride of mercury" RELATED [ChemIDplus] synonym: "Quecksilber(II)-chlorid" RELATED [ChEBI] synonym: "Sublimat" RELATED [NIST_Chemistry_WebBook] synonym: "sublimate" RELATED [ChemIDplus] synonym: "Sulema" RELATED [NIST_Chemistry_WebBook] xref: CAS:7487-94-7 {source="ChemIDplus"} xref: CAS:7487-94-7 {source="NIST Chemistry WebBook"} xref: CAS:7487-94-7 {source="KEGG COMPOUND"} xref: ChEMBL:898244 xref: ChemIDplus:7487-94-7 xref: CiteXplore:7980848 xref: CiteXplore:8991630 xref: Drug_Central:4787 {source="DrugCentral"} xref: Gmelin:100830 {source="Gmelin"} xref: KEGG COMPOUND:7487-94-7 xref: KEGG COMPOUND:C13377 xref: KEGG DRUG:D01905 xref: KEGG:C13377 xref: KEGG:D01905 xref: MeSH:D008627 xref: NCIt:C80330 xref: NIST Chemistry WebBook:7487-94-7 xref: PMID:25042713 {source="Europe PMC"} xref: PMID:29079364 {source="Europe PMC"} xref: PMID:7980848 {source="Europe PMC"} xref: PMID:8991630 {source="Europe PMC"} xref: Reaxys:4937255 {source="Reaxys"} xref: SNOMEDCT:11496005 xref: SNOMEDCT:411387005 is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "Cl2Hg" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/2ClH.Hg/h2*1H;/q;;+2/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LWJROJCJINYWOX-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "271.49540" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "271.90835" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cl[Hg]Cl" xsd:string [Term] id: CHEBI:31882 name: N-methyl-D-aspartic acid namespace: chebi_ontology alt_id: CHEBI:164776 def: "An aspartic acid derivative having an N-methyl substituent and D-configuration." [] subset: 3_STAR synonym: "(R)-2-Methylamino-succinic acid" RELATED [ChEMBL] synonym: "2-Methylamino-succinic acid" RELATED [ChEMBL] synonym: "Methyl aspartic acid" RELATED [ChemIDplus] synonym: "N-Methyl aspartic acid" RELATED [ChemIDplus] synonym: "N-Methyl-D-aspartate" RELATED [KEGG_COMPOUND] synonym: "N-Methyl-D-aspartic acid" EXACT [KEGG_COMPOUND] synonym: "N-methyl-D-aspartic acid" EXACT IUPAC_NAME [IUPAC] synonym: "N-Methylaspartate" RELATED [ChemIDplus] synonym: "NMDA" RELATED [KEGG_COMPOUND] xref: Beilstein:1724431 {source="Beilstein"} xref: CAS:6384-92-5 {source="ChemIDplus"} xref: HMDB:HMDB0002393 xref: KEGG:C12269 xref: MeSH:D016202 xref: MetaCyc:CPD-10705 xref: PDBeChem:OEM xref: PMID:10514280 {source="ChEMBL"} xref: PMID:10893301 {source="ChEMBL"} xref: PMID:1967316 {source="ChEMBL"} xref: PMID:2170646 {source="ChEMBL"} xref: PMID:3351864 {source="ChEMBL"} xref: PMID:8568805 {source="ChEMBL"} xref: PMID:9572889 {source="ChEMBL"} xref: Reaxys:1724431 {source="Reaxys"} xref: Wikipedia:N-Methyl-D-aspartic_acid is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H9NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H9NO4/c1-6-3(5(9)10)2-4(7)8/h3,6H,2H2,1H3,(H,7,8)(H,9,10)/t3-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HOKKHZGPKSLGJE-GSVOUGTGSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "147.12930" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "147.05316" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN[C@H](CC(O)=O)C(O)=O" xsd:string [Term] id: CHEBI:31899 name: nemonapride namespace: chebi_ontology def: "A racemate composed of (2S,3S)- and (2R,3R)-enantiomers of nemonapride. Highly potent dopamine D2-like receptor antagonist; selective over D1-like receptors (Ki values are 0.1 and 740 nM for D2-like and D1-like receptors respectively). Also potent 5-HT1A receptor agonist (IC50 = 34 nM) and has affinity for sigma receptors." [] subset: 3_STAR synonym: "(+-)-cis-N-(1-benzyl-2-methyl-3-pyrrolidinyl)-5-chloro-4-(methylamino)-o-anisamide" RELATED [ChemIDplus] synonym: "(+-)-cis-N-(1-benzyl-2-methylpyrrolidin-3-yl)-5-chloro-2-methoxy-4-methylaminobenzamide" RELATED [ChemIDplus] synonym: "(+-)-nemonapride" RELATED [ChEBI] synonym: "Emilace" RELATED BRAND_NAME [KEGG_DRUG] synonym: "emonapride" RELATED [ChemIDplus] synonym: "nemonaprida" RELATED INN [WHO_MedNet] synonym: "nemonapride" RELATED INN [WHO_MedNet] synonym: "nemonapridum" RELATED INN [WHO_MedNet] synonym: "rac-N-[(2S,3S)-1-benzyl-2-methylpyrrolidin-3-yl]-5-chloro-2-methoxy-4-(methylamino)benzamide" EXACT IUPAC_NAME [IUPAC] synonym: "rac-nemonapride" RELATED [ChEBI] synonym: "racemic nemonapride" RELATED [ChEBI] synonym: "YM 09151-2" RELATED [ChemIDplus] synonym: "YM-09151" RELATED [ChemIDplus] xref: CAS:75272-39-8 {source="ChemIDplus"} xref: CAS:75272-39-8 {source="KEGG COMPOUND"} xref: ChemIDplus:75272-39-8 xref: CiteXplore:10049714 xref: CiteXplore:10363800 xref: CiteXplore:10435376 xref: CiteXplore:10587100 xref: CiteXplore:10823405 xref: CiteXplore:10862524 xref: CiteXplore:10898926 xref: CiteXplore:10917400 xref: CiteXplore:11817505 xref: CiteXplore:11929700 xref: CiteXplore:16020947 xref: CiteXplore:9095318 xref: CiteXplore:9228185 xref: CiteXplore:9310388 xref: CiteXplore:9325557 xref: CiteXplore:9369342 xref: CiteXplore:9766869 xref: CiteXplore:9774248 xref: CiteXplore:9934942 xref: Drug_Central:1895 {source="DrugCentral"} xref: KEGG COMPOUND:75272-39-8 xref: KEGG COMPOUND:C12915 xref: KEGG DRUG:D01468 xref: KEGG:C12915 xref: KEGG:D01468 xref: MeSH:C030265 xref: NCIt:C73036 xref: Patent:EP1273301 xref: Patent:US5811547 xref: PMID:10049714 {source="Europe PMC"} xref: PMID:10363800 {source="Europe PMC"} xref: PMID:10435376 {source="Europe PMC"} xref: PMID:10587100 {source="Europe PMC"} xref: PMID:10823405 {source="Europe PMC"} xref: PMID:10862524 {source="Europe PMC"} xref: PMID:10898926 {source="Europe PMC"} xref: PMID:10917400 {source="Europe PMC"} xref: PMID:11817505 {source="Europe PMC"} xref: PMID:11929700 {source="Europe PMC"} xref: PMID:16020947 {source="Europe PMC"} xref: PMID:8328325 {source="Europe PMC"} xref: PMID:9016292 {source="Europe PMC"} xref: PMID:9031995 {source="Europe PMC"} xref: PMID:9095318 {source="Europe PMC"} xref: PMID:9228185 {source="Europe PMC"} xref: PMID:9310388 {source="Europe PMC"} xref: PMID:9325557 {source="Europe PMC"} xref: PMID:9369342 {source="Europe PMC"} xref: PMID:9766869 {source="Europe PMC"} xref: PMID:9774248 {source="Europe PMC"} xref: PMID:9934942 {source="Europe PMC"} xref: Reaxys:5766104 {source="Reaxys"} xref: Wikipedia:Nemonapride is_a: CHEBI:24431 ! chemical entity relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C21H26ClN3O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "387.910" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "387.17135" xsd:string [Term] id: CHEBI:31941 name: oxaliplatin namespace: chebi_ontology def: "A platinum coordination entity that is a commonly used chemothrepeutic drug for treatment of colorectal cancer." [] subset: 3_STAR synonym: "(SP-4-2)[(1R,2R)-cyclohexane-1,2-diamine-kappa(2)N,N'][ethanedioato(2-)-kappa(2)O(1),O(2)]platinum" EXACT IUPAC_NAME [IUPAC] synonym: "(SP-4-2-(1R-trans))-(1,2-cyclohexanediamine-N,N')(ethanedioato(2-)-O,O')platinum" RELATED [ChemIDplus] synonym: "Eloxatin" RELATED BRAND_NAME [KEGG_DRUG] synonym: "oxalato(1,2-diaminocyclohexane)platinum(II)" RELATED [ChemIDplus] synonym: "Oxaliplatin" EXACT [KEGG_COMPOUND] synonym: "oxaliplatin" RELATED INN [KEGG_DRUG] synonym: "oxaliplatine" RELATED INN [ChEBI] synonym: "oxaliplatino" RELATED INN [DrugBank] synonym: "oxaliplatinum" RELATED INN [DrugBank] xref: CAS:61825-94-3 {source="KEGG COMPOUND"} xref: CAS:63121-00-6 {source="ChemIDplus"} xref: DrugBank:DB00526 xref: Gmelin:1046012 {source="Gmelin"} xref: Gmelin:28892 {source="Gmelin"} xref: KEGG:D01790 xref: LINCS:LSM-6352 xref: MeSH:C030110 xref: NCIt:C1181 xref: PMID:11300320 {source="Europe PMC"} xref: PMID:14755010 {source="Europe PMC"} xref: PMID:15477639 {source="Europe PMC"} xref: PMID:17347561 {source="Europe PMC"} xref: PMID:18440088 {source="Europe PMC"} xref: PMID:19138416 {source="Europe PMC"} xref: PMID:19735649 {source="Europe PMC"} xref: PMID:27756654 {source="Europe PMC"} xref: PMID:28186109 {source="Europe PMC"} xref: PMID:28398406 {source="Europe PMC"} xref: PMID:28415810 {source="Europe PMC"} xref: PMID:28499428 {source="Europe PMC"} xref: PMID:28505615 {source="Europe PMC"} xref: PMID:28624791 {source="Europe PMC"} xref: PMID:28642473 {source="Europe PMC"} xref: PMID:28654098 {source="Europe PMC"} xref: PMID:28695397 {source="Europe PMC"} xref: PMID:28762171 {source="Europe PMC"} xref: PMID:28777427 {source="Europe PMC"} xref: PMID:28800641 {source="Europe PMC"} xref: PMID:28811232 {source="Europe PMC"} xref: PMID:28812173 {source="Europe PMC"} xref: PMID:28837658 {source="Europe PMC"} xref: PMID:28876454 {source="Europe PMC"} xref: PMID:28881354 {source="Europe PMC"} xref: PMID:28881481 {source="Europe PMC"} xref: PMID:28884286 {source="Europe PMC"} xref: PMID:28894576 {source="Europe PMC"} xref: PMID:28924870 {source="Europe PMC"} xref: PMID:28938919 {source="Europe PMC"} xref: Reaxys:15700099 {source="Reaxys"} xref: SNOMEDCT:327032007 xref: SNOMEDCT:395814003 xref: Wikipedia:Oxaliplatin is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:35610 ! antineoplastic agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H14N2.C2O4.Pt" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H14N2O4Pt" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H14N2.C2H2O4.Pt/c7-5-3-1-2-4-6(5)8;3-1(4)2(5)6;/h5-6H,1-4,7-8H2;(H,3,4)(H,5,6);/q;;+2/p-2/t5-,6-;;/m1../s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ZROHGHOFXNOHSO-BNTLRKBRSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "397.28584" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "397.06015" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][N]1([H])[C@@H]2CCCC[C@H]2[N]([H])([H])[Pt]11OC(=O)C(=O)O1" xsd:string [Term] id: CHEBI:31991 name: phenol red namespace: chebi_ontology def: "3H-2,1-Benzoxathiole 1,1-dioxide in which both of the hydrogens at position 3 have been substituted by 4-hydroxyphenyl groups. A pH indicator changing colour from yellow below pH 6.8 to bright pink above pH 8.2, it is commonly used as an indicator in cell cultures and in home swimming pool test kits. It is also used in the (now infrequently performed) phenolsulfonphthalein (PSP) test for estimation of overall blood flow through the kidney." [] subset: 3_STAR synonym: "3,3-bis(p-hydroxyphenyl)-3H-2,1-benzoxathiole 1,1-dioxide" RELATED [ChEBI] synonym: "4,4'-(1,1-dioxido-3H-2,1-benzoxathiole-3,3-diyl)diphenol" EXACT IUPAC_NAME [IUPAC] synonym: "4,4'-(3H-2,1-benzoxathiol-3-ylidene)bisphenol S,S-dioxide" RELATED [ChemIDplus] synonym: "alpha-hydroxy-alpha,alpha-bis(p-hydroxyphenyl)-o-toluenesulfonic acid gamma-sultone" RELATED [ChEBI] synonym: "Phenol red" EXACT [KEGG_COMPOUND] synonym: "Phenolsulfonphthalein" RELATED [KEGG_COMPOUND] synonym: "PSP" RELATED [ChemIDplus] xref: Beilstein:326470 {source="Beilstein"} xref: CAS:143-74-8 {source="ChemIDplus"} xref: CAS:143-74-8 {source="KEGG COMPOUND"} xref: Drug_Central:3439 {source="DrugCentral"} xref: KEGG:C12600 xref: KEGG:D01200 is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:33853 ! phenols property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H14O5S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H14O5S/c20-15-9-5-13(6-10-15)19(14-7-11-16(21)12-8-14)17-3-1-2-4-18(17)25(22,23)24-19/h1-12,20-21H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BELBBZDIHDAJOR-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "354.37600" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "354.05619" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Oc1ccc(cc1)C1(OS(=O)(=O)c2ccccc12)c1ccc(O)cc1" xsd:string [Term] id: CHEBI:320055 name: methyl beta-D-glucopyranoside namespace: chebi_ontology alt_id: CHEBI:43887 def: "A beta-D-glucopyranoside having a methyl substituent at the anomeric position." [] subset: 3_STAR synonym: "1-O-Methyl-beta-D-glucopyranoside" RELATED [ChemIDplus] synonym: "beta-d-Methylglucopyranoside" RELATED [NIST_Chemistry_WebBook] synonym: "Beta-methyl-d-glucoside" RELATED [DrugBank] synonym: "beta-Methylglucoside" RELATED [ChemIDplus] synonym: "methyl beta-D-glucopyranoside" EXACT IUPAC_NAME [IUPAC] synonym: "Methyl beta-d-glucoside" RELATED [DrugBank] synonym: "Methyl hexopyranoside" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:81567 {source="Beilstein"} xref: CAS:709-50-2 {source="ChemIDplus"} xref: CAS:709-50-2 {source="NIST Chemistry WebBook"} xref: DrugBank:DB01642 xref: Gmelin:408559 {source="Gmelin"} xref: PMID:11671987 {source="Europe PMC"} xref: PMID:17929936 {source="Europe PMC"} xref: PMID:19630436 {source="Europe PMC"} xref: PMID:7504304 {source="Europe PMC"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H14O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H14O6/c1-12-7-6(11)5(10)4(9)3(2-8)13-7/h3-11H,2H2,1H3/t3-,4-,5+,6-,7-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HOVAGTYPODGVJG-XUUWZHRGSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "194.18250" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "194.07904" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O" xsd:string [Term] id: CHEBI:320061 name: methyl alpha-D-glucopyranoside namespace: chebi_ontology alt_id: CHEBI:42974 def: "An alpha-D-glucopyranoside having a methyl substituent at the anomeric position." [] subset: 3_STAR synonym: "1-O-methyl-alpha-D-glucopyranose" RELATED [ChEBI] synonym: "1-O-methyl-alpha-D-glucopyranoside" RELATED [ChEBI] synonym: "1-O-methyl-alpha-D-glucoside" RELATED [ChEBI] synonym: "alpha-D-methyl glucoside" RELATED [ChEBI] synonym: "alpha-Methyl D-glucose ether" RELATED [NIST_Chemistry_WebBook] synonym: "alpha-Methyl-D-glucoside" RELATED [ChemIDplus] synonym: "alpha-Methylglucoside" RELATED [ChemIDplus] synonym: "Me alpha-Glc" RELATED [ChEBI] synonym: "methyl alpha-D-glucopyranoside" EXACT IUPAC_NAME [IUPAC] synonym: "Methyl alpha-D-glucoside" RELATED [ChemIDplus] synonym: "Methyl hexopyranoside" RELATED [NIST_Chemistry_WebBook] xref: CAS:97-30-3 {source="NIST Chemistry WebBook"} xref: CAS:97-30-3 {source="ChemIDplus"} xref: Gmelin:83829 {source="Gmelin"} xref: PDBeChem:GYP xref: PMID:10692555 {source="Europe PMC"} xref: PMID:1095369 {source="Europe PMC"} xref: PMID:1256584 {source="Europe PMC"} xref: PMID:16636060 {source="Europe PMC"} xref: PMID:1812543 {source="Europe PMC"} xref: PMID:188655 {source="Europe PMC"} xref: PMID:19330624 {source="Europe PMC"} xref: PMID:2510735 {source="Europe PMC"} xref: PMID:3667518 {source="Europe PMC"} xref: PMID:3791291 {source="Europe PMC"} xref: PMID:4052413 {source="Europe PMC"} xref: PMID:4851869 {source="Europe PMC"} xref: PMID:7171588 {source="Europe PMC"} xref: PMID:7504304 {source="Europe PMC"} xref: PMID:7524207 {source="Europe PMC"} xref: PMID:815827 {source="Europe PMC"} xref: Reaxys:81568 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H14O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H14O6/c1-12-7-6(11)5(10)4(9)3(2-8)13-7/h3-11H,2H2,1H3/t3-,4-,5+,6-,7+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HOVAGTYPODGVJG-ZFYZTMLRSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "194.18250" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "194.07904" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CO[C@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O" xsd:string [Term] id: CHEBI:32030 name: potassium bromide namespace: chebi_ontology def: "A metal bromide salt with a K(+) counterion." [] subset: 3_STAR synonym: "Kaliumbromid" RELATED [ChEBI] synonym: "KBr" RELATED [IUPAC] synonym: "Potassium bromide" EXACT [KEGG_COMPOUND] synonym: "potassium bromide" EXACT IUPAC_NAME [IUPAC] xref: CAS:7758-02-3 {source="NIST Chemistry WebBook"} xref: CAS:7758-02-3 {source="ChemIDplus"} xref: CAS:7758-02-3 {source="KEGG COMPOUND"} xref: KEGG:C13198 xref: KEGG:D01731 xref: MeSH:C039004 xref: NCIt:C76725 xref: SNOMEDCT:35903003 xref: SNOMEDCT:421196003 is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "Br.K" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "BrK" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/BrH.K/h1H;/q;+1/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IOLCXVTUBQKXJR-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "119.00230" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "117.88204" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[K+].[Br-]" xsd:string [Term] id: CHEBI:32063 name: propylparaben namespace: chebi_ontology def: "The benzoate ester that is the propyl ester of 4-hydroxybenzoic acid. Preservative typically found in many water-based cosmetics, such as creams, lotions, shampoos and bath products. Also used as a food additive." [] subset: 3_STAR synonym: "4-Hydroxybenzoic acid propyl ester" RELATED [ChemIDplus] synonym: "4-Hydroxybenzoic acid, propyl ester" RELATED [ChemIDplus] synonym: "n-Propyl 4-hydroxybenzoate" RELATED [ChEBI] synonym: "n-Propyl p-hydroxybenzoate" RELATED [ChemIDplus] synonym: "n-propyl paraben" RELATED [ChEBI] synonym: "p-Hydroxybenzoic acid propyl ester" RELATED [ChemIDplus] synonym: "p-Hydroxybenzoic propyl ester" RELATED [ChemIDplus] synonym: "p-Hydroxypropyl benzoate" RELATED [ChemIDplus] synonym: "p-Oxybenzoesaeurepropylester" RELATED [ChemIDplus] synonym: "propyl 4-hydroxybenzoate" EXACT IUPAC_NAME [IUPAC] synonym: "Propyl p-hydroxybenzoate" RELATED [ChemIDplus] synonym: "propyl paraben" RELATED [ChEBI] synonym: "Propyl parahydroxybenzoate" RELATED [ChemIDplus] xref: CAS:94-13-3 {source="KEGG DRUG"} xref: ChEMBL:428157 xref: CiteXplore:21492176 xref: CiteXplore:21549034 xref: CiteXplore:21608130 xref: CiteXplore:21645663 xref: CiteXplore:21705745 xref: CiteXplore:21886901 xref: CiteXplore:22165009 xref: CiteXplore:22177019 xref: CiteXplore:22220814 xref: CiteXplore:22237600 xref: CiteXplore:22249112 xref: CiteXplore:22305363 xref: CiteXplore:22337803 xref: Drug_Central:2307 {source="DrugCentral"} xref: HMDB:HMDB0032574 xref: KEGG DRUG:94-13-3 xref: KEGG DRUG:D01422 xref: KEGG:D01422 xref: MeSH:C006068 xref: NCIt:C76730 xref: PMID:21492176 {source="Europe PMC"} xref: PMID:21549034 {source="Europe PMC"} xref: PMID:21608130 {source="Europe PMC"} xref: PMID:21645663 {source="Europe PMC"} xref: PMID:21705745 {source="Europe PMC"} xref: PMID:21886901 {source="Europe PMC"} xref: PMID:22165009 {source="Europe PMC"} xref: PMID:22177019 {source="Europe PMC"} xref: PMID:22220814 {source="Europe PMC"} xref: PMID:22237600 {source="Europe PMC"} xref: PMID:22249112 {source="Europe PMC"} xref: PMID:22305363 {source="Europe PMC"} xref: PMID:22337803 {source="Europe PMC"} xref: Reaxys:1103245 {source="Reaxys"} xref: SNOMEDCT:255871007 xref: SNOMEDCT:411208000 xref: Wikipedia:Propylparaben is_a: CHEBI:33853 ! phenols relationship: has_role CHEBI:35718 ! antifungal agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H12O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H12O3/c1-2-7-13-10(12)8-3-5-9(11)6-4-8/h3-6,11H,2,7H2,1H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QELSKZZBTMNZEB-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "180.20050" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "180.07864" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCOC(=O)c1ccc(O)cc1" xsd:string [Term] id: CHEBI:32111 name: saccharin namespace: chebi_ontology alt_id: CHEBI:49717 def: "A 1,2-benzisothiazole having a keto-group at the 3-position and two oxo substituents at the 1-position. It is used as an artificial sweetening agent." [] subset: 3_STAR synonym: "1,1-Dioxo-1,2-benzisothiazol-3(2H)-one" RELATED [NIST_Chemistry_WebBook] synonym: "1,1-Dioxo-1,2-dihydro-benzo[d]isothiazol-3-one" RELATED [NIST_Chemistry_WebBook] synonym: "1,2-Benzisothiazol-3(2H)-one 1,1-dioxide" RELATED [ChemIDplus] synonym: "1,2-benzisothiazol-3(2H)-one 1,1-dioxide" EXACT IUPAC_NAME [IUPAC] synonym: "1,2-Benzisothiazolin-3-one 1,1-dioxide" RELATED [NIST_Chemistry_WebBook] synonym: "1,2-Dihydro-2-ketobenzisosulfonazole" RELATED [ChemIDplus] synonym: "1,2-Dihydro-2-ketobenzisosulphonazole" RELATED [ChemIDplus] synonym: "2,3-Dihydro-3-oxobenzisosulfonazole" RELATED [ChemIDplus] synonym: "2,3-Dihydro-3-oxobenzisosulphonazole" RELATED [ChemIDplus] synonym: "3-Hydroxybenzisothiazole-S,S-dioxide" RELATED [ChemIDplus] synonym: "Anhydro-o-sulfaminebenzoic acid" RELATED [ChemIDplus] synonym: "Benzo-2-sulphimide" RELATED [ChemIDplus] synonym: "Benzoic acid sulfimide" RELATED [ChemIDplus] synonym: "Benzoic sulfimide" RELATED [ChemIDplus] synonym: "Benzoic sulphimide" RELATED [ChemIDplus] synonym: "Benzosulfimide" RELATED [ChemIDplus] synonym: "Benzosulphimide" RELATED [ChemIDplus] synonym: "Benzoylsulfonic Imide" RELATED [ChemIDplus] synonym: "o-Benzoic sulfimide" RELATED [ChemIDplus] synonym: "o-Benzosulfimide" RELATED [ChemIDplus] synonym: "o-Sulfobenzimide" RELATED [ChemIDplus] synonym: "o-Sulfobenzoic acid imide" RELATED [ChemIDplus] synonym: "Saccharimide" RELATED [ChemIDplus] synonym: "Saccharin" EXACT [KEGG_DRUG] synonym: "Saccharine" RELATED [ChemIDplus] xref: Beilstein:6888 {source="Beilstein"} xref: CAS:81-07-2 {source="NIST Chemistry WebBook"} xref: CAS:81-07-2 {source="KEGG DRUG"} xref: CAS:81-07-2 {source="ChemIDplus"} xref: Gmelin:4203 {source="Gmelin"} xref: HMDB:HMDB0029723 xref: KEGG:D01085 xref: MetaCyc:CPD-5581 xref: PDBeChem:LSA xref: PMID:24456165 {source="Europe PMC"} xref: PMID:24549104 {source="Europe PMC"} xref: PMID:24739358 {source="Europe PMC"} xref: PMID:24780866 {source="Europe PMC"} xref: Reaxys:6888 {source="Reaxys"} xref: Wikipedia:Saccharin is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H5NO3S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H5NO3S/c9-7-5-3-1-2-4-6(5)12(10,11)8-7/h1-4H,(H,8,9)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CVHZOJJKTDOEJC-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "183.18500" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "182.99901" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O=C1NS(=O)(=O)c2ccccc12" xsd:string [Term] id: CHEBI:32120 name: sapropterin dihydrochloride namespace: chebi_ontology def: "The dihydrochloride salt of sapropterin. It is used for the diagnosis and treatment of variant forms of phenylketonuria (hyperphenylalaninaemia) associated with tetrahydrobiopterin deficiency. Natural cofactor for phenylalanine hydroxylase, tyrosine hydroxylase, tryptophan hydroxylase, and nitric oxide synthetase." [] subset: 3_STAR synonym: "(6R)-2-amino-6-[(1R,2S)-1,2-dihydroxypropyl]-5,6,7,8-tetrahydropteridin-4(3H)-one dihydrochloride" EXACT IUPAC_NAME [IUPAC] synonym: "(6R)-tetrahydrobiopterin dihydrochloride" RELATED [ChEBI] synonym: "(6R)-tetrahydrobiopterin hydrochloride" RELATED [ChemIDplus] synonym: "sapropterin 2HCl" RELATED [ChEBI] synonym: "sapropterin dihydrochloride" EXACT [KEGG_DRUG] synonym: "sapropterin hydrochloride" RELATED [KEGG_DRUG] xref: Beilstein:4613446 {source="Beilstein"} xref: CAS:69056-38-8 {source="KEGG DRUG"} xref: CAS:69056-38-8 {source="ChemIDplus"} xref: ChEMBL:775726 xref: ChemIDplus:69056-38-8 xref: CiteXplore:20179079 xref: CiteXplore:20206791 xref: CiteXplore:20418136 xref: CiteXplore:20556789 xref: CiteXplore:20667834 xref: CiteXplore:20714359 xref: CiteXplore:20830319 xref: CiteXplore:21077779 xref: CiteXplore:21645517 xref: CiteXplore:21646032 xref: CiteXplore:21967857 xref: CiteXplore:22112818 xref: CiteXplore:22310224 xref: KEGG DRUG:69056-38-8 xref: KEGG DRUG:D01798 xref: KEGG:D01798 xref: NCIt:C78088 xref: PMID:20179079 {source="Europe PMC"} xref: PMID:20206791 {source="Europe PMC"} xref: PMID:20418136 {source="Europe PMC"} xref: PMID:20556789 {source="Europe PMC"} xref: PMID:20667834 {source="Europe PMC"} xref: PMID:20714359 {source="Europe PMC"} xref: PMID:20830319 {source="Europe PMC"} xref: PMID:21077779 {source="Europe PMC"} xref: PMID:21645517 {source="Europe PMC"} xref: PMID:21646032 {source="Europe PMC"} xref: PMID:21967857 {source="Europe PMC"} xref: PMID:22112818 {source="Europe PMC"} xref: PMID:22310224 {source="Europe PMC"} xref: Reaxys:12490572 {source="Reaxys"} xref: SNOMEDCT:434239009 is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H17Cl2N5O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H15N5O3.2ClH/c1-3(15)6(16)4-2-11-7-5(12-4)8(17)14-9(10)13-7;;/h3-4,6,12,15-16H,2H2,1H3,(H4,10,11,13,14,17);2*1H/t3-,4+,6-;;/m0../s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RKSUYBCOVNCALL-NTVURLEBSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "314.16900" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "313.07084" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cl.Cl.[H][C@@]1(CNc2nc(N)[nH]c(=O)c2N1)[C@@H](O)[C@H](C)O" xsd:string [Term] id: CHEBI:32145 name: sodium hydroxide namespace: chebi_ontology subset: 3_STAR synonym: "Aetznatron" RELATED [ChEBI] synonym: "caustic soda" RELATED [NIST_Chemistry_WebBook] synonym: "hydroxyde de sodium" RELATED [NIST_Chemistry_WebBook] synonym: "NaOH" RELATED [IUPAC] synonym: "Natriumhydroxid" RELATED [NIST_Chemistry_WebBook] synonym: "soda lye" RELATED [NIST_Chemistry_WebBook] synonym: "sodium hydrate" RELATED [NIST_Chemistry_WebBook] synonym: "Sodium hydroxide" EXACT [KEGG_COMPOUND] synonym: "sodium hydroxide" EXACT IUPAC_NAME [IUPAC] synonym: "soude caustique" RELATED [ChEBI] xref: CAS:1310-73-2 {source="NIST Chemistry WebBook"} xref: CAS:1310-73-2 {source="KEGG COMPOUND"} xref: CAS:1310-73-2 {source="ChemIDplus"} xref: Gmelin:68430 {source="Gmelin"} xref: KEGG:C12569 xref: KEGG:D01169 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "HNaO" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/Na.H2O/h;1H2/q+1;/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HEMHJVSKTPXQMS-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "39.99711" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "39.99251" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[OH-].[Na+]" xsd:string [Term] id: CHEBI:32168 name: sulpiride namespace: chebi_ontology def: "A member of the class of benzamides obtained from formal condensation between the carboxy group of 2-methoxy-5-sulfamoylbenzoic acid and the primary amino group of (1-ethylpyrrolidin-2-yl)methylamine." [] subset: 3_STAR synonym: "(+-)-sulpiride" RELATED [NIST_Chemistry_WebBook] synonym: "5-(Aminosulfonyl)-N-((1-ethyl-2-pyrrolidinyl)methyl)-2-methoxybenzamide" RELATED [ChemIDplus] synonym: "N-((1-Ethyl-2-pyrrolidinyl)methyl)-2-methoxy-5-sulfamoylbenzamide" RELATED [ChemIDplus] synonym: "N-((1-Ethyl-2-pyrrolidinyl)methyl)-5-sulfamoyl-o-anisamide" RELATED [ChemIDplus] synonym: "N-[(1-ethylpyrrolidin-2-yl)methyl]-2-methoxy-5-sulfamoylbenzamide" EXACT IUPAC_NAME [IUPAC] synonym: "Sulpirid" RELATED [DrugBank] synonym: "sulpirida" RELATED INN [DrugBank] synonym: "sulpiride" RELATED INN [KEGG_DRUG] synonym: "sulpiridum" RELATED INN [DrugBank] synonym: "Sulpyrid" RELATED [DrugBank] xref: CAS:15676-16-1 {source="KEGG DRUG"} xref: CAS:15676-16-1 {source="NIST Chemistry WebBook"} xref: CAS:15676-16-1 {source="ChemIDplus"} xref: Drug_Central:2537 {source="DrugCentral"} xref: DrugBank:DB00391 xref: KEGG:D01226 xref: LINCS:LSM-5080 xref: Patent:DE2903891 xref: Patent:US3342826 xref: PMID:16327907 {source="Europe PMC"} xref: PMID:16924461 {source="Europe PMC"} xref: PMID:17912501 {source="Europe PMC"} xref: PMID:17942035 {source="Europe PMC"} xref: PMID:18757738 {source="Europe PMC"} xref: PMID:18985321 {source="Europe PMC"} xref: PMID:19370694 {source="Europe PMC"} xref: PMID:19546258 {source="Europe PMC"} xref: PMID:19672580 {source="Europe PMC"} xref: PMID:19864199 {source="Europe PMC"} xref: PMID:19941957 {source="Europe PMC"} xref: PMID:20061345 {source="Europe PMC"} xref: PMID:20091661 {source="Europe PMC"} xref: PMID:20177884 {source="Europe PMC"} xref: PMID:20304506 {source="Europe PMC"} xref: PMID:20305607 {source="Europe PMC"} xref: PMID:20538381 {source="Europe PMC"} xref: PMID:20599913 {source="Europe PMC"} xref: PMID:20875676 {source="Europe PMC"} xref: Reaxys:494008 {source="Reaxys"} xref: Wikipedia:Sulpiride is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C15H23N3O4S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C15H23N3O4S/c1-3-18-8-4-5-11(18)10-17-15(19)13-9-12(23(16,20)21)6-7-14(13)22-2/h6-7,9,11H,3-5,8,10H2,1-2H3,(H,17,19)(H2,16,20,21)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BGRJTUBHPOOWDU-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "341.42600" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "341.14093" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCN1CCCC1CNC(=O)c1cc(ccc1OC)S(N)(=O)=O" xsd:string [Term] id: CHEBI:32360 name: icosanoate namespace: chebi_ontology def: "A long-chain fatty acid anion resulting from the removal of a proton from the carboxy group of icosanoic acid (arachidic acid)." [] subset: 3_STAR synonym: "(20:0)" RELATED [ChEBI] synonym: "arachidate" RELATED [ChEBI] synonym: "arachidate" RELATED [CBN] synonym: "arachidinate" RELATED [ChEBI] synonym: "CH3-[CH2]18-COO(-)" RELATED [IUPAC] synonym: "CH3-[CH2]18-COO(-1)" RELATED [ChEBI] synonym: "eicosanoate" RELATED [UniProt] synonym: "eicosanoate" RELATED [ChEBI] synonym: "eicosoate" RELATED [ChEBI] synonym: "icosanoate" EXACT IUPAC_NAME [IUPAC] synonym: "n-eicosanoate" RELATED [ChEBI] xref: Gmelin:346191 {source="Gmelin"} xref: MetaCyc:ARACHIDIC_ACID xref: PMID:17279692 {source="Europe PMC"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H39O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H40O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-18-19-20(21)22/h2-19H2,1H3,(H,21,22)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VKOBVWXKNCXXDE-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "311.52250" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "311.29555" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCCCCCCCCCCCCCC([O-])=O" xsd:string [Term] id: CHEBI:32362 name: heptanoate namespace: chebi_ontology def: "A medium-chain fatty acid anion that is the conjugate base of heptanoic acid; shown in myocardial ischaemia/reperfusion studies to increase levels of C4 Kreb's cycle intermediates." [] subset: 3_STAR synonym: "(7:0)" RELATED [ChEBI] synonym: "1-hexanecarboxylate" RELATED [ChEBI] synonym: "CH3-[CH2]5-COO(-)" RELATED [IUPAC] synonym: "enanthate" RELATED [ChEBI] synonym: "enanthylate" RELATED [ChEBI] synonym: "heptanoate" EXACT [UniProt] synonym: "heptanoate" EXACT IUPAC_NAME [IUPAC] synonym: "heptanoic acid, ion(1-)" RELATED [ChemIDplus] synonym: "heptoate" RELATED [ChEBI] synonym: "heptylate" RELATED [ChEBI] synonym: "n-heptanoate" RELATED [ChEBI] synonym: "n-heptoate" RELATED [ChEBI] synonym: "n-heptylate" RELATED [ChEBI] synonym: "oenanthate" RELATED [ChEBI] synonym: "oenanthylate" RELATED [ChEBI] xref: Beilstein:3903940 {source="Beilstein"} xref: CAS:7563-37-3 {source="ChemIDplus"} xref: Gmelin:327115 {source="Gmelin"} xref: MetaCyc:CPD-7619 xref: PMID:16141384 {source="Europe PMC"} xref: Reaxys:3903940 {source="Reaxys"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H13O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H14O2/c1-2-3-4-5-6-7(8)9/h2-6H2,1H3,(H,8,9)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "MNWFXJYAOYHMED-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "129.17692" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "129.09210" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCC([O-])=O" xsd:string [Term] id: CHEBI:32366 name: margarate namespace: chebi_ontology def: "A straight-chain saturated fatty acid anion that is the conjugate base of margaric acid, obtained by deprotonation of the carboxy group." [] subset: 3_STAR synonym: "(17:0)" RELATED [ChEBI] synonym: "CH3-[CH2]15-COO(-)" RELATED [IUPAC] synonym: "heptadecanoate" EXACT IUPAC_NAME [IUPAC] synonym: "heptadecanoate" RELATED [UniProt] synonym: "heptadecanoate anion" RELATED [ChEBI] synonym: "margarinate" RELATED [ChEBI] synonym: "margaroate" RELATED [ChEBI] synonym: "n-heptadecanoate" RELATED [ChEBI] synonym: "n-heptadecoate" RELATED [ChEBI] synonym: "n-heptadecylate" RELATED [ChEBI] xref: Gmelin:386661 {source="Gmelin"} xref: MetaCyc:CPD-7830 is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C17H33O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C17H34O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17(18)19/h2-16H2,1H3,(H,18,19)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KEMQGTRYUADPNZ-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "269.44272" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "269.24860" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCCCCCCCCCCC([O-])=O" xsd:string [Term] id: CHEBI:3237 name: butein namespace: chebi_ontology def: "A chalcone that is (E)-chalcone bearing four additional hydroxy substituents at positions 2', 3, 4 and 4'." [] subset: 3_STAR synonym: "(2E)-1-(2,4-dihydroxyphenyl)-3-(3,4-dihydroxyphenyl)-2-propen-1-one" RELATED [ChEBI] synonym: "(2E)-1-(2,4-dihydroxyphenyl)-3-(3,4-dihydroxyphenyl)prop-2-en-1-one" EXACT IUPAC_NAME [IUPAC] synonym: "(E)-1-(2,4-dihydroxyphenyl)-3-(3,4-dihydroxyphenyl)prop-2-en-1-one" EXACT IUPAC_NAME [IUPAC] synonym: "(E)-2',3,4,4'-terahydroxychalcone" RELATED [ChEBI] synonym: "2',3,4,4'-Tetrahydroxychalcone" RELATED [ChemIDplus] synonym: "2',4',3,4-tetrahydroxychalcone" RELATED [MetaCyc] synonym: "3,4,2',4'-Tetrahydroxychalcone" RELATED [ChemIDplus] synonym: "Butein" EXACT [KEGG_COMPOUND] xref: CAS:487-52-5 {source="KEGG COMPOUND"} xref: CAS:487-52-5 {source="ChemIDplus"} xref: ChEMBL:310267 xref: ChemIDplus:487-52-5 xref: Chemspider:4444634 xref: CiteXplore:19643530 xref: CiteXplore:20515942 xref: CiteXplore:20681544 xref: CiteXplore:20696233 xref: CiteXplore:20826149 xref: CiteXplore:21131551 xref: CiteXplore:21170936 xref: CiteXplore:21212525 xref: CiteXplore:21770460 xref: CiteXplore:21964506 xref: CiteXplore:22114764 xref: CiteXplore:22155143 xref: CiteXplore:22180353 xref: CiteXplore:22185775 xref: CiteXplore:22245810 xref: FooDB:FDB000082 xref: KEGG COMPOUND:487-52-5 xref: KEGG COMPOUND:C08578 xref: KEGG:C08578 xref: KNApSAcK:C00006941 xref: LINCS:LSM-42896 xref: LIPID_MAPS_instance:LMPK12120111 {source="LIPID MAPS"} xref: MeSH:C040918 xref: MetaCyc:BUTEIN xref: NCIt:C1028 xref: PDBeChem:BUN xref: PMID:12939617 {source="Europe PMC"} xref: PMID:19643530 {source="Europe PMC"} xref: PMID:20515942 {source="Europe PMC"} xref: PMID:20681544 {source="Europe PMC"} xref: PMID:20696233 {source="Europe PMC"} xref: PMID:20826149 {source="Europe PMC"} xref: PMID:21131551 {source="Europe PMC"} xref: PMID:21170936 {source="Europe PMC"} xref: PMID:21212525 {source="Europe PMC"} xref: PMID:21770460 {source="Europe PMC"} xref: PMID:21964506 {source="Europe PMC"} xref: PMID:22114764 {source="Europe PMC"} xref: PMID:22155143 {source="Europe PMC"} xref: PMID:22180353 {source="Europe PMC"} xref: PMID:22185775 {source="Europe PMC"} xref: PMID:22245810 {source="Europe PMC"} xref: PMID:26081470 {source="Europe PMC"} xref: PMID:29258953 {source="Europe PMC"} xref: PMID:30344763 {source="Europe PMC"} xref: PMID:31665136 {source="Europe PMC"} xref: PMID:32033283 {source="Europe PMC"} xref: PMID:32181410 {source="Europe PMC"} xref: PMID:32325749 {source="Europe PMC"} xref: PMID:32642916 {source="Europe PMC"} xref: PMID:32663368 {source="Europe PMC"} xref: PMID:33209079 {source="Europe PMC"} xref: PMID:33294263 {source="Europe PMC"} xref: PMID:33325610 {source="Europe PMC"} xref: PMID:34271434 {source="Europe PMC"} xref: PMID:34481015 {source="Europe PMC"} xref: Reaxys:2056928 {source="Reaxys"} xref: Wikipedia:Butein is_a: CHEBI:33853 ! phenols relationship: has_role CHEBI:35610 ! antineoplastic agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C15H12O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C15H12O5/c16-10-3-4-11(14(19)8-10)12(17)5-1-9-2-6-13(18)15(20)7-9/h1-8,16,18-20H/b5-1+" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "AYMYWHCQALZEGT-ORCRQEGFSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "272.256" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "272.06847" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC1=CC(O)=C(C=C1)C(=O)\\C=C\\C1=CC(O)=C(O)C=C1" xsd:string [Term] id: CHEBI:32370 name: myristoleate namespace: chebi_ontology def: "A tetradecenoate that is the conjugate base of myristoleic acid." [] subset: 3_STAR synonym: "(14:1n5)" RELATED [ChEBI] synonym: "(9Z)-tetradec-9-enoate" EXACT IUPAC_NAME [IUPAC] synonym: "(9Z)-tetradecenoate" RELATED [ChEBI] synonym: "(9Z)-tetradecenoate" RELATED [UniProt] synonym: "(Z)-tetradec-9-enoate" RELATED [ChEBI] synonym: "9-tetradecenoate" RELATED [ChEBI] synonym: "9Z-tetradecenoate" RELATED [ChEBI] synonym: "cis-9-tetradecenoate" RELATED [ChEBI] synonym: "cis-Delta(9)-tetradecenoate" RELATED [ChEBI] xref: Beilstein:6391251 {source="Beilstein"} xref: Reaxys:6391251 {source="Reaxys"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C14H25O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C14H26O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14(15)16/h5-6H,2-4,7-13H2,1H3,(H,15,16)/p-1/b6-5-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YWWVWXASSLXJHU-WAYWQWQTSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "225.34710" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "225.18600" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCC\\C=C/CCCCCCCC([O-])=O" xsd:string [Term] id: CHEBI:32372 name: palmitoleate namespace: chebi_ontology def: "A hexadec-9-enoate that is the conjugate base of palmitoleic acid; major species at pH 7.3." [] subset: 3_STAR synonym: "(16:1n7)" RELATED [ChEBI] synonym: "(9Z)-hexadec-9-enoate" EXACT IUPAC_NAME [IUPAC] synonym: "(9Z)-hexadecenoate" RELATED [UniProt] synonym: "(Z)-9-hexadecenoate" RELATED [ChEBI] synonym: "(Z)-hexadec-9-enoate" RELATED [ChEBI] synonym: "9-cis-hexadecenoate" RELATED [ChEBI] synonym: "cis-9-hexadecenoate" RELATED [ChEBI] synonym: "cis-Delta(9)-hexadecenoate" RELATED [ChEBI] synonym: "palmitolinoleate" RELATED [ChEBI] synonym: "zoomarate" RELATED [ChEBI] xref: Beilstein:6394065 {source="Beilstein"} xref: Gmelin:1789543 {source="Gmelin"} xref: Reaxys:6394065 {source="Reaxys"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C16H29O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C16H30O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16(17)18/h7-8H,2-6,9-15H2,1H3,(H,17,18)/p-1/b8-7-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SECPZKHBENQXJG-FPLPWBNLSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "253.40026" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "253.21730" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCC\\C=C/CCCCCCCC([O-])=O" xsd:string [Term] id: CHEBI:32387 name: alpha-linolenate namespace: chebi_ontology def: "A linolenate that is the conjugate base of alpha-linolenic acid, arising from deprotonation of the carboxylic acid group." [] subset: 3_STAR synonym: "(9,12,15)-linolenate" RELATED [CBN] synonym: "(9Z,12Z,15Z)-octadeca-9,12,15-trienoate" EXACT IUPAC_NAME [IUPAC] synonym: "(9Z,12Z,15Z)-octadecatrienoate" RELATED [UniProt] synonym: "all-cis--9,12,15-octadecatrienoate" RELATED [ChEBI] synonym: "cis,cis,cis-9,12,15-octadecatrienoate" RELATED [ChEBI] synonym: "linolenate" RELATED [ChemIDplus] xref: Gmelin:377245 {source="Gmelin"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H29O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H30O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-18(19)20/h3-4,6-7,9-10H,2,5,8,11-17H2,1H3,(H,19,20)/p-1/b4-3-,7-6-,10-9-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DTOSIQBPPRVQHS-PDBXOOCHSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "277.42166" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "277.21730" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC\\C=C/C\\C=C/C\\C=C/CCCCCCCC([O-])=O" xsd:string [Term] id: CHEBI:32389 name: all-cis-octadeca-6,9,12,15-tetraenoic acid namespace: chebi_ontology def: "An octadecatetraenoic acid having four double bonds located at positions 6, 9, 12 and 15 (the all-cis-isomer). It has been isolated from Lithospermum officinale and fish oils." [] subset: 3_STAR synonym: "(6Z,9Z,12Z,15Z)-octadeca-6,9,12,15-tetraenoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "(6Z,9Z,12Z,15Z)-Octadecatetraenoic acid" RELATED [KEGG_COMPOUND] synonym: "6,9,12,15-Octadecatetraenoic acid" RELATED [KEGG_COMPOUND] synonym: "SDA" RELATED [ChEBI] synonym: "stearidonic acid" RELATED [ChEBI] xref: Beilstein:1712973 {source="Beilstein"} xref: CAS:20290-75-9 {source="ChemIDplus"} xref: CAS:20290-75-9 {source="KEGG COMPOUND"} xref: HMDB:HMDB0006547 xref: KEGG:C16300 xref: KNApSAcK:C00000405 xref: LIPID_MAPS_instance:LMFA01030357 {source="LIPID MAPS"} xref: MetaCyc:CPD-12653 xref: Patent:CA2827585 xref: Patent:KR20130045846 xref: PMID:23932357 {source="Europe PMC"} xref: PMID:24553695 {source="Europe PMC"} xref: Reaxys:1712973 {source="Reaxys"} xref: Wikipedia:Stearidonic_acid is_a: CHEBI:35366 ! fatty acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H28O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H28O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-18(19)20/h3-4,6-7,9-10,12-13H,2,5,8,11,14-17H2,1H3,(H,19,20)/b4-3-,7-6-,10-9-,13-12-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JIWBIWFOSCKQMA-LTKCOYKYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "276.41370" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "276.20893" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC\\C=C/C\\C=C/C\\C=C/C\\C=C/CCCCC(O)=O" xsd:string [Term] id: CHEBI:32391 name: gamma-linolenate namespace: chebi_ontology def: "A linolenate that is the conjugate base of gamma-linolenic acid, arising from deprotonation of the carboxylic acid group." [] subset: 3_STAR synonym: "(6,9,12)-linolenate" RELATED [CBN] synonym: "(6Z,9Z,12Z)-octadeca-6,9,12-trienoate" EXACT IUPAC_NAME [IUPAC] synonym: "(6Z,9Z,12Z)-octadecatrienoate" RELATED [UniProt] synonym: "6-cis,9-cis,12-cis-octadecatrienoate" RELATED [ChEBI] synonym: "all-cis-6,9,12-octadecatrienoate" RELATED [ChEBI] synonym: "cis-Delta(6,9,12)-octadecatrienoate" RELATED [ChEBI] synonym: "gamolenate" RELATED [ChEBI] xref: MetaCyc:CPD-8117 xref: PMID:15513825 {source="Europe PMC"} xref: PMID:16567086 {source="Europe PMC"} xref: PMID:17513402 {source="Europe PMC"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H29O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H30O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-18(19)20/h6-7,9-10,12-13H,2-5,8,11,14-17H2,1H3,(H,19,20)/p-1/b7-6-,10-9-,13-12-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VZCCETWTMQHEPK-QNEBEIHSSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "277.42170" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "277.21730" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCC\\C=C/C\\C=C/C\\C=C/CCCCC([O-])=O" xsd:string [Term] id: CHEBI:32393 name: erucate namespace: chebi_ontology def: "A unsaturated fatty acid anion that is the conjugate base of erucic acid, formed by deprotonation of the carboxylic acid group." [] subset: 3_STAR synonym: "(13Z)-docos-13-enoate" EXACT IUPAC_NAME [IUPAC] synonym: "(13Z)-docosenoate" RELATED [UniProt] synonym: "(22:1n9)" RELATED [ChEBI] synonym: "(Z)-13-docosenoate" RELATED [ChEBI] synonym: "cis-Delta(13)-docosenoate" RELATED [ChEBI] synonym: "docos-13c-enoate" RELATED [ChEBI] xref: Beilstein:6116536 {source="Beilstein"} xref: Gmelin:385960 {source="Gmelin"} xref: MetaCyc:CPD-14292 xref: Reaxys:6116536 {source="Reaxys"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H41O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C22H42O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-18-19-20-21-22(23)24/h9-10H,2-8,11-21H2,1H3,(H,23,24)/p-1/b10-9-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DPUOLQHDNGRHBS-KTKRTIGZSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "337.55970" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "337.31120" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCC\\C=C/CCCCCCCCCCCC([O-])=O" xsd:string [Term] id: CHEBI:32395 name: arachidonate namespace: chebi_ontology alt_id: CHEBI:13852 alt_id: CHEBI:22607 def: "A long-chain fatty acid anion resulting from the removal of a proton from the carboxy group of arachidonic acid." [] subset: 3_STAR synonym: "(20:4n6)" RELATED [ChEBI] synonym: "(5Z,8Z,11Z,14Z)-eicosatetraenoate" RELATED [UniProt] synonym: "(5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoate" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:5439048 {source="Beilstein"} xref: Gmelin:419207 {source="Gmelin"} xref: MetaCyc:ARACHIDONIC_ACID xref: PMID:18772128 {source="Europe PMC"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H31O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H32O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-18-19-20(21)22/h6-7,9-10,12-13,15-16H,2-5,8,11,14,17-19H2,1H3,(H,21,22)/p-1/b7-6-,10-9-,13-12-,16-15-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YZXBAPSDXZZRGB-DOFZRALJSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "303.45894" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "303.23295" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCC\\C=C/C\\C=C/C\\C=C/C\\C=C/CCCC([O-])=O" xsd:string [Term] id: CHEBI:32484 name: glutamate residue namespace: chebi_ontology subset: 3_STAR synonym: "glutamate residue" EXACT [JCBN] is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H6NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "128.10608" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "128.03477" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(*)(=O)C(N*)CCC(=O)[O-]" xsd:string [Term] id: CHEBI:32497 name: thioacetamide namespace: chebi_ontology def: "A thiocarboxamide consiting of acetamide having the oxygen replaced by sulfur." [] subset: 3_STAR synonym: "acetic acid thioamide" RELATED [ChEBI] synonym: "Acetothioamide" RELATED [ChemIDplus] synonym: "ethanethioamide" EXACT IUPAC_NAME [IUPAC] synonym: "methylthioamide" RELATED [ChEBI] synonym: "TAA" RELATED [NIST_Chemistry_WebBook] synonym: "Thiacetamide" RELATED [ChemIDplus] synonym: "Thioacetimidic acid" RELATED [ChemIDplus] synonym: "Thioactamide" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:506006 {source="Beilstein"} xref: CAS:62-55-5 {source="NIST Chemistry WebBook"} xref: CAS:62-55-5 {source="ChemIDplus"} xref: CAS:62-55-5 {source="KEGG COMPOUND"} xref: KEGG:C19302 xref: PMID:20138653 {source="Europe PMC"} xref: PMID:20534638 {source="Europe PMC"} xref: PMID:20931291 {source="Europe PMC"} xref: PMID:21182490 {source="Europe PMC"} xref: PMID:21455425 {source="Europe PMC"} xref: PMID:21489598 {source="Europe PMC"} xref: PMID:21647311 {source="Europe PMC"} xref: PMID:21699073 {source="Europe PMC"} xref: PMID:21733084 {source="Europe PMC"} xref: PMID:21733883 {source="Europe PMC"} xref: PMID:21749370 {source="Europe PMC"} xref: Reaxys:506006 {source="Reaxys"} xref: Wikipedia:Thioacetamide is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C2H5NS" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C2H5NS/c1-2(3)4/h1H3,(H2,3,4)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YUKQRDCYNOVPGJ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "75.13384" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "75.01427" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(N)=S" xsd:string [Term] id: CHEBI:32509 name: pirinixic acid namespace: chebi_ontology subset: 3_STAR synonym: "((4-Chloro-6-((2,3-dimethylphenyl)amino)-2-pyrimidinyl)thio)acetic acid" RELATED [ChemIDplus] synonym: "(4-Chloro-6-(2,3-xylidino)-2-pyrimidinylthio)acetic acid" RELATED [ChemIDplus] synonym: "({4-chloro-6-[(2,3-dimethylphenyl)amino]pyrimidin-2-yl}sulfanyl)acetic acid" EXACT IUPAC_NAME [IUPAC] synonym: "WY-14,643" RELATED [ChemIDplus] xref: CAS:50892-23-4 {source="ChemIDplus"} xref: CAS:50892-23-4 {source="KEGG COMPOUND"} xref: ChEMBL:162864 xref: ChemIDplus:50892-23-4 xref: KEGG:C15617 xref: LINCS:LSM-2015 xref: MeSH:C006253 xref: NCIt:C29866 xref: Wikipedia:Pirinixic_Acid is_a: CHEBI:24532 ! organic heterocyclic compound is_a: EFO:0004416 ! acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C14H14ClN3O2S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C14H14ClN3O2S/c1-8-4-3-5-10(9(8)2)16-12-6-11(15)17-14(18-12)21-7-13(19)20/h3-6H,7H2,1-2H3,(H,19,20)(H,16,17,18)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SZRPDCCEHVWOJX-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "323.79868" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "323.04953" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cc1cccc(Nc2cc(Cl)nc(SCC(O)=O)n2)c1C" xsd:string [Term] id: CHEBI:32585 name: 4-hydroxynon-2-enal namespace: chebi_ontology def: "An enal consisting of non-2-ene having an oxo group at the 1-position and a hydroxy group at the 4-position." [] subset: 3_STAR synonym: "4-HNE" RELATED [ChEBI] synonym: "4-Hydroxy-2,3-nonenal" RELATED [ChemIDplus] synonym: "4-Hydroxy-2-nonenal" RELATED [ChemIDplus] synonym: "4-hydroxynon-2-enal" EXACT [UniProt] synonym: "4-hydroxynon-2-enal" EXACT IUPAC_NAME [IUPAC] synonym: "4-Hydroxynonenal" RELATED [ChemIDplus] synonym: "HNE" RELATED [ChEBI] xref: CAS:29343-52-0 {source="ChemIDplus"} xref: LINCS:LSM-4344 xref: Wikipedia:4-Hydroxynonenal is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H16O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H16O2/c1-2-3-4-6-9(11)7-5-8-10/h5,7-9,11H,2-4,6H2,1H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JVJFIQYAHPMBBX-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "156.22210" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "156.11503" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H]C(=CC=O)C(O)CCCCC" xsd:string [Term] id: CHEBI:32588 name: potassium chloride namespace: chebi_ontology def: "A metal chloride salt with a K(+) counterion." [] subset: 3_STAR synonym: "[KCl]" RELATED [MolBase] synonym: "Kaliumchlorid" RELATED [ChEBI] synonym: "Kaon-Cl 10" RELATED BRAND_NAME [KEGG_DRUG] synonym: "KCl" RELATED [IUPAC] synonym: "Klor-con" RELATED BRAND_NAME [KEGG_DRUG] synonym: "Klotrix" RELATED BRAND_NAME [KEGG_DRUG] synonym: "Monopotassium chloride" RELATED [DrugBank] synonym: "muriate of potash" RELATED [NIST_Chemistry_WebBook] synonym: "potassium chloride" EXACT IUPAC_NAME [IUPAC] synonym: "sylvite" RELATED [ChEBI] xref: CAS:7447-40-7 {source="NIST Chemistry WebBook"} xref: CAS:7447-40-7 {source="ChemIDplus"} xref: ChEMBL:774682 xref: ChemIDplus:7447-40-7 xref: DrugBank:DB00761 xref: KEGG DRUG:D02060 xref: KEGG:D02060 xref: MeSH:D011189 xref: MetaCyc:KCL xref: MolBase:881 xref: NCIt:C47679 xref: NIST Chemistry WebBook:7447-40-7 xref: Reaxys:3534978 {source="Reaxys"} xref: SNOMEDCT:420155008 xref: SNOMEDCT:8631001 xref: Wikipedia:Potassium_Chloride is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "ClK" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/ClH.K/h1H;/q;+1/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WCUXLLCKKVVCTQ-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "74.55100" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "73.93256" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Cl-].[K+]" xsd:string [Term] id: CHEBI:32599 name: magnesium sulfate namespace: chebi_ontology def: "A magnesium salt having sulfate as the counterion." [] subset: 3_STAR synonym: "magnesium sulfate" EXACT IUPAC_NAME [IUPAC] synonym: "Magnesium sulfate (1:1)" RELATED [ChemIDplus] synonym: "magnesium sulfate anhydrous" RELATED [ChemIDplus] synonym: "magnesium sulphate" RELATED [NIST_Chemistry_WebBook] synonym: "magnesium(II) sulfate" RELATED [NIST_Chemistry_WebBook] synonym: "Magnesiumsulfat" RELATED [ChEBI] synonym: "MgSO4" RELATED [IUPAC] synonym: "sulfuric acid magnesium salt" RELATED [NIST_Chemistry_WebBook] synonym: "sulphate of magnesia" RELATED [ChEBI] xref: CAS:7487-88-9 {source="NIST Chemistry WebBook"} xref: CAS:7487-88-9 {source="ChemIDplus"} xref: DrugBank:DB00653 xref: PMID:10723972 {source="Europe PMC"} xref: PMID:11251702 {source="Europe PMC"} xref: PMID:15357561 {source="Europe PMC"} xref: PMID:19805935 {source="Europe PMC"} xref: PMID:31092073 {source="Europe PMC"} xref: PMID:31412352 {source="Europe PMC"} xref: PMID:32063925 {source="Europe PMC"} xref: PMID:32256123 {source="Europe PMC"} xref: PMID:8991630 {source="Europe PMC"} xref: Reaxys:4208125 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "MgO4S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/Mg.H2O4S/c;1-5(2,3)4/h;(H2,1,2,3,4)/q+2;/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CSNNHWWHGAXBCP-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "120.36860" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "119.93677" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Mg++].[O-]S([O-])(=O)=O" xsd:string [Term] id: CHEBI:32635 name: paracetamol sulfate namespace: chebi_ontology def: "An aryl sulfate that is paracetamol in which the hydroxy group has been replaced by a sulfooxy group." [] subset: 3_STAR synonym: "4-acetamidophenyl hydrogen sulfate" EXACT IUPAC_NAME [IUPAC] synonym: "4-acetaminophen sulfate" RELATED [ChEBI] synonym: "acetaminophen sulfate" RELATED [ChemIDplus] synonym: "acetaminophen sulfate ester" RELATED [ChemIDplus] synonym: "N-(4-(sulfooxy)phenyl)acetamide" RELATED [ChemIDplus] synonym: "N-acetyl-4-aminophenol sulfate" RELATED [ChemIDplus] xref: Beilstein:6457132 {source="Beilstein"} xref: CAS:10066-90-7 {source="ChemIDplus"} xref: PMID:12831506 {source="Europe PMC"} xref: PMID:24401842 {source="Europe PMC"} xref: Reaxys:3331457 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H9NO5S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H9NO5S/c1-6(10)9-7-2-4-8(5-3-7)14-15(11,12)13/h2-5H,1H3,(H,9,10)(H,11,12,13)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IGTYILLPRJOVFY-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "231.22680" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "231.02014" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(=O)Nc1ccc(OS(O)(=O)=O)cc1" xsd:string [Term] id: CHEBI:32643 name: 5-acetamido-6-formamido-3-methyluracil namespace: chebi_ontology subset: 3_STAR synonym: "5-Acetylamino-6-formylamino-3-methyluracil" RELATED [ChemIDplus] synonym: "AFMU" RELATED [KEGG_COMPOUND] synonym: "AFMU" RELATED [ChemIDplus] synonym: "N-(6-formamido-3-methyl-2,4-dioxo-1,2,3,4-tetrahydropyrimidin-5-yl)acetamide" EXACT IUPAC_NAME [IUPAC] xref: CAS:85438-96-6 {source="ChemIDplus"} xref: CAS:85438-96-6 {source="KEGG COMPOUND"} xref: KEGG:C16365 is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H10N4O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H10N4O4/c1-4(14)10-5-6(9-3-13)11-8(16)12(2)7(5)15/h3H,1-2H3,(H,9,13)(H,10,14)(H,11,16)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RDZNZFGKEVDNPK-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "226.18940" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "226.07020" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(=O)Nc1c(NC=O)[nH]c(=O)n(C)c1=O" xsd:string [Term] id: CHEBI:32687 name: piperonyl butoxide namespace: chebi_ontology subset: 3_STAR synonym: "(3,4-methylenedioxy-6-propylbenzyl) (butyl) diethylene glycol ether" RELATED [NIST_Chemistry_WebBook] synonym: "(butylcarbityl)(6-propylpiperonyl)ether" RELATED [ChemIDplus] synonym: "2-(2-butoxyethoxy)ethyl 6-propylpiperonyl ether" RELATED [ChemIDplus] synonym: "5-propyl-4-(2,5,8-trioxa-dodecyl)-1,3-benzodioxole" RELATED [NIST_Chemistry_WebBook] synonym: "5-{[2-(2-butoxyethoxy)ethoxy]methyl}-6-propyl-1,3-benzodioxole" EXACT IUPAC_NAME [IUPAC] synonym: "6-propylpiperonyl butyl diethylene glycol ether" RELATED [NIST_Chemistry_WebBook] synonym: "alpha-(2-(2-n-butoxyethoxy)-ethoxy)-4,5-methylenedioxy-2-propyltoluene" RELATED [NIST_Chemistry_WebBook] synonym: "alpha-[2-(2-butoxyethoxy)ethoxy]-4,5-(methylenedioxy)-2-propyltoluene" RELATED [NIST_Chemistry_WebBook] synonym: "butyl carbitol 6-propylpiperonyl ether" RELATED [ChemIDplus] xref: Beilstein:288063 {source="Beilstein"} xref: CAS:51-03-6 {source="ChemIDplus"} xref: CAS:51-03-6 {source="KEGG COMPOUND"} xref: CAS:51-03-6 {source="NIST Chemistry WebBook"} xref: Drug_Central:4276 {source="DrugCentral"} xref: KEGG:C18880 xref: KEGG:D08383 xref: MeSH:D010882 xref: NCIt:C29849 xref: NCIt:C50378 xref: PPDB:529 xref: SNOMEDCT:32340007 xref: SNOMEDCT:412273005 xref: VSDB:529 xref: Wikipedia:Piperonyl_Butoxide is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:33286 ! agrochemical property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H30O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H30O5/c1-3-5-7-20-8-9-21-10-11-22-14-17-13-19-18(23-15-24-19)12-16(17)6-4-2/h12-13H,3-11,14-15H2,1-2H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FIPWRIJSWJWJAI-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "338.43850" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "338.20932" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCOCCOCCOCc1cc2OCOc2cc1CCC" xsd:string [Term] id: CHEBI:32692 name: 4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one namespace: chebi_ontology subset: 3_STAR synonym: "4-(Methylnitrosamino)-1-(3-pyridyl)-1-butanone" RELATED [ChemIDplus] synonym: "4-(N-Methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone" RELATED [ChemIDplus] synonym: "4-[methyl(nitroso)amino]-1-(pyridin-3-yl)butan-1-one" EXACT IUPAC_NAME [IUPAC] synonym: "NNK" RELATED [KEGG_COMPOUND] synonym: "NNK (carcinogen)" RELATED [ChemIDplus] xref: Beilstein:3548355 {source="ChemIDplus"} xref: CAS:64091-91-4 {source="KEGG COMPOUND"} xref: CAS:64091-91-4 {source="ChemIDplus"} xref: KEGG:C16453 is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H13N3O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H13N3O2/c1-13(12-15)7-3-5-10(14)9-4-2-6-11-8-9/h2,4,6,8H,3,5,7H2,1H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FLAQQSHRLBFIEZ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "207.22924" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "207.10078" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN(CCCC(=O)c1cccnc1)N=O" xsd:string [Term] id: CHEBI:32816 name: pyruvic acid namespace: chebi_ontology alt_id: CHEBI:26466 alt_id: CHEBI:45253 alt_id: CHEBI:8685 def: "A 2-oxo monocarboxylic acid that is the 2-keto derivative of propionic acid. It is a metabolite obtained during glycolysis." [] subset: 3_STAR synonym: "2-ketopropionic acid" RELATED [ChemIDplus] synonym: "2-Oxopropanoic acid" RELATED [KEGG_COMPOUND] synonym: "2-oxopropanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "2-oxopropanoic acid" RELATED [ChEBI] synonym: "2-Oxopropansaeure" RELATED [ChemIDplus] synonym: "2-Oxopropionsaeure" RELATED [ChemIDplus] synonym: "Acetylformic acid" RELATED [HMDB] synonym: "acetylformic acid" RELATED [NIST_Chemistry_WebBook] synonym: "acide pyruvique" RELATED [ChEBI] synonym: "alpha-ketopropionic acid" RELATED [NIST_Chemistry_WebBook] synonym: "alpha-Oxopropionsaeure" RELATED [ChemIDplus] synonym: "Brenztraubensaeure" RELATED [ChEBI] synonym: "BTS" RELATED [ChemIDplus] synonym: "CH3COCOOH" RELATED [NIST_Chemistry_WebBook] synonym: "Pyroracemic acid" RELATED [KEGG_COMPOUND] synonym: "PYRUVIC ACID" EXACT [PDBeChem] synonym: "Pyruvic acid" EXACT [KEGG_COMPOUND] synonym: "pyruvic acid" EXACT [ChEBI] xref: Beilstein:506211 {source="Beilstein"} xref: CAS:127-17-3 {source="ChemIDplus"} xref: CAS:127-17-3 {source="NIST Chemistry WebBook"} xref: DrugBank:DB00119 xref: ECMDB:ECMDB00243 xref: Gmelin:101087 {source="Gmelin"} xref: HMDB:HMDB0000243 xref: KEGG:C00022 xref: KNApSAcK:C00001200 xref: LIPID_MAPS_instance:LMFA01060077 {source="LIPID MAPS"} xref: MetaCyc:PYRUVATE xref: PDBeChem:PYR xref: PMID:11762589 {source="Europe PMC"} xref: PMID:19260671 {source="Europe PMC"} xref: PMID:22150460 {source="Europe PMC"} xref: PMID:22233273 {source="Europe PMC"} xref: PMID:22735334 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: Reaxys:506211 {source="Reaxys"} xref: Wikipedia:Pyruvic_acid xref: YMDB:YMDB00175 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H4O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H4O3/c1-2(4)3(5)6/h1H3,(H,5,6)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LCTONWCANYUPML-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "88.06206" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "88.01604" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(=O)C(O)=O" xsd:string [Term] id: CHEBI:32902 name: gibberellin A4 namespace: chebi_ontology alt_id: CHEBI:24244 alt_id: CHEBI:29597 alt_id: CHEBI:42806 def: "A C19-gibberellin, initially identified in Gibberella fujikuroi and differing from gibberellin A1 by the substitution of the OH at C-7 (gibbane numbering) by H." [] subset: 3_STAR synonym: "(1R,2R,5R,8R,9S,10R,11S,12S)-12-hydroxy-11-methyl-6-methylidene-16-oxo-15-oxapentacyclo[9.3.2.1(5,8).0(1,10).0(2,8)]heptadecane-9-carboxylic acid" EXACT IUPAC_NAME [IUPAC] synonym: "(1S,2S,4aR,4bR,7R,9aR,10S,10aR)-2-hydroxy-1-methyl-8-methylidene-13-oxododecahydro-4a,1-(epoxymethano)-7,9a-methanobenzo[a]azulene-10-carboxylic acid" EXACT IUPAC_NAME [IUPAC] synonym: "2beta,4a-dihydroxy-1-methyl-8-methylene-4aalpha,4bbeta-gibbane-1alpha,10beta-dicarboxylic acid, 1,4a-lactone" RELATED [ChemIDplus] synonym: "2beta-hydroxy-1beta-methyl-8-methylidene-13-oxo-4a,1alpha-epoxymethano-4aalpha,4bbeta-gibbane-10beta-carboxylic acid" EXACT IUPAC_NAME [IUPAC] synonym: "GA4" RELATED [ChemIDplus] synonym: "gibberellin 4" RELATED [ChEBI] synonym: "GIBBERELLIN A4" EXACT [PDBeChem] synonym: "Gibberellin A4" EXACT [KEGG_COMPOUND] xref: Beilstein:46820 {source="Beilstein"} xref: CAS:468-44-0 {source="KEGG COMPOUND"} xref: CAS:468-44-0 {source="ChemIDplus"} xref: DrugBank:DB07815 xref: KEGG:C11864 xref: KNApSAcK:C00000004 xref: LIPID_MAPS_instance:LMPR0104170021 {source="LIPID MAPS"} xref: MetaCyc:CPD1F-137 xref: PDBeChem:GA4 xref: PMID:24014872 {source="Europe PMC"} xref: PMID:24192296 {source="Europe PMC"} xref: PMID:24232845 {source="Europe PMC"} xref: Reaxys:46820 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:24913 ! isoprenoid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H24O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H24O5/c1-9-7-18-8-10(9)3-4-11(18)19-6-5-12(20)17(2,16(23)24-19)14(19)13(18)15(21)22/h10-14,20H,1,3-8H2,2H3,(H,21,22)/t10-,11-,12+,13-,14-,17-,18+,19-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RSQSQJNRHICNNH-NFMPGMCNSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "332.39090" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "332.16237" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]12CC[C@]3([H])[C@](CC1=C)(C2)[C@@H](C(O)=O)[C@]1([H])[C@@]2(C)[C@@H](O)CC[C@@]31OC2=O" xsd:string [Term] id: CHEBI:32918 name: 1-naphthaleneacetic acid namespace: chebi_ontology alt_id: CHEBI:25473 alt_id: CHEBI:31044 alt_id: CHEBI:44550 def: "A naphthylacetic acid substituted by a carboxymethyl group at position 1." [] subset: 3_STAR synonym: "(naphthalen-1-yl)acetic acid" RELATED [IUPAC] synonym: "1-naphthaleneacetic acid" EXACT [NIST_Chemistry_WebBook] synonym: "1-Naphthylacetic acid" RELATED [KEGG_COMPOUND] synonym: "alpha-NAA" RELATED [NIST_Chemistry_WebBook] synonym: "alpha-naphthaleneacetic acid" RELATED [NIST_Chemistry_WebBook] synonym: "NAA" RELATED [KEGG_COMPOUND] synonym: "NAA" RELATED [ChemIDplus] synonym: "NAPHTHALEN-1-YL-ACETIC ACID" RELATED [PDBeChem] synonym: "naphthalen-1-ylacetic acid" EXACT IUPAC_NAME [IUPAC] synonym: "naphthalene-1-acetic acid" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:1308415 {source="Beilstein"} xref: BPDB:1330 xref: CAS:86-87-3 {source="KEGG COMPOUND"} xref: CAS:86-87-3 {source="NIST Chemistry WebBook"} xref: CAS:86-87-3 {source="ChemIDplus"} xref: DrugBank:DB01750 xref: Gmelin:2062516 {source="Gmelin"} xref: KEGG:C13014 xref: KEGG:D01558 xref: MeSH:C034182 xref: PDBeChem:NLA xref: PMID:24272685 {source="Europe PMC"} xref: PMID:24690897 {source="Europe PMC"} xref: PPDB:1330 xref: Reaxys:1308415 {source="Reaxys"} xref: Wikipedia:1-Naphthaleneacetic_acid is_a: EFO:0004416 ! acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12H10O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C12H10O2/c13-12(14)8-10-6-3-5-9-4-1-2-7-11(9)10/h1-7H,8H2,(H,13,14)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PRPINYUDVPFIRX-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "186.20660" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "186.06808" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)Cc1cccc2ccccc12" xsd:string [Term] id: CHEBI:32979 name: (S)-3-phenyllactate namespace: chebi_ontology def: "A (2S)-2-hydroxy monocarboxylic acid anion resulting from the removal of a proton from the carboxylic acid group of (S)-3-phenyllactic acid." [] subset: 3_STAR synonym: "(2S)-2-hydroxy-3-phenylpropanoate" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:5740554 {source="Beilstein"} xref: Reaxys:5740554 {source="Reaxys"} is_a: CHEBI:8100 ! 3-phenyllactate property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H9O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H10O3/c10-8(9(11)12)6-7-4-2-1-3-5-7/h1-5,8,10H,6H2,(H,11,12)/p-1/t8-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VOXXWSYKYCBWHO-QMMMGPOBSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "165.16596" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "165.05572" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O[C@@H](Cc1ccccc1)C([O-])=O" xsd:string [Term] id: CHEBI:33083 name: fluoranthene namespace: chebi_ontology def: "An ortho- and peri-fused polycyclic arene consisting of a naphthalene and benzene unit connected by a five-membered ring." [] subset: 3_STAR synonym: "benzo[jk]fluorene" RELATED [NIST_Chemistry_WebBook] synonym: "fluoranthene" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:1907918 {source="Beilstein"} xref: CAS:206-44-0 {source="ChemIDplus"} xref: CAS:206-44-0 {source="NIST Chemistry WebBook"} xref: CAS:206-44-0 {source="KEGG COMPOUND"} xref: Gmelin:262216 {source="Gmelin"} xref: KEGG:C19425 xref: MetaCyc:CPD-15564 xref: PMID:15278918 {source="Europe PMC"} xref: PMID:17258277 {source="Europe PMC"} xref: PMID:23943046 {source="Europe PMC"} xref: PMID:24151025 {source="Europe PMC"} xref: Reaxys:1907918 {source="Reaxys"} xref: Wikipedia:Fluoranthene is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C16H10" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C16H10/c1-2-8-13-12(7-1)14-9-3-5-11-6-4-10-15(13)16(11)14/h1-10H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GVEPBJHOBDJJJI-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "202.25060" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "202.07825" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "c1ccc-2c(c1)-c1cccc3cccc-2c13" xsd:string [Term] id: CHEBI:33098 name: 2-nitrotoluene namespace: chebi_ontology def: "A mononitrotoluene that is toluene carrying a nitro substituent at position 2." [] subset: 3_STAR synonym: "1-methyl-2-nitrobenzene" EXACT IUPAC_NAME [IUPAC] synonym: "2-methyl-1-nitrobenzene" RELATED [ChemIDplus] synonym: "2-nitrotoluene" EXACT [UniProt] synonym: "2-Nitrotoluol" RELATED [ChemIDplus] synonym: "o-methylnitrobenzene" RELATED [ChemIDplus] synonym: "o-nitrotoluene" RELATED [ChemIDplus] synonym: "o-Nitrotoluol" RELATED [ChEBI] synonym: "ONT" RELATED [NIST_Chemistry_WebBook] synonym: "ortho-Nitrotoluol" RELATED [ChemIDplus] xref: CAS:88-72-2 {source="ChemIDplus"} xref: CAS:88-72-2 {source="NIST Chemistry WebBook"} xref: CAS:88-72-2 {source="KEGG COMPOUND"} xref: KEGG:C19597 xref: MetaCyc:2-NITROTOLUENE xref: PMID:20582618 {source="Europe PMC"} xref: PMID:21432561 {source="Europe PMC"} xref: PMID:23153775 {source="Europe PMC"} xref: PMID:7944378 {source="Europe PMC"} xref: Reaxys:1907580 {source="Reaxys"} xref: Wikipedia:2-Nitrotoluene is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H7NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H7NO2/c1-6-4-2-3-5-7(6)8(9)10/h2-5H,1H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PLAZTCDQAHEYBI-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "137.13600" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "137.04768" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cc1ccccc1[N+]([O-])=O" xsd:string [Term] id: CHEBI:3312 name: calcium dichloride namespace: chebi_ontology subset: 3_STAR synonym: "[CaCl2]" RELATED [MolBase] synonym: "CaCl2" RELATED [IUPAC] synonym: "calcium chloride" EXACT IUPAC_NAME [IUPAC] synonym: "Calcium chloride anhydrous" RELATED [KEGG_COMPOUND] synonym: "calcium chloride anhydrous" RELATED [ChemIDplus] synonym: "calcium dichloride" EXACT IUPAC_NAME [IUPAC] xref: AGR:IND607339542 {source="Europe PMC"} xref: CAS:10043-52-4 {source="NIST Chemistry WebBook"} xref: CAS:10043-52-4 {source="ChemIDplus"} xref: CAS:10043-52-4 {source="KEGG COMPOUND"} xref: DrugBank:DB01164 xref: FooDB:FDB015404 xref: HMDB:HMDB0303526 xref: KEGG:C08130 xref: MeSH:D002122 xref: MetaCyc:CPD0-1589 xref: MolBase:1869 xref: NCIt:C28901 xref: PMID:11057678 {source="Europe PMC"} xref: PMID:13333715 {source="Europe PMC"} xref: PMID:32018153 {source="Europe PMC"} xref: PMID:32441097 {source="Europe PMC"} xref: PMID:34618995 {source="Europe PMC"} xref: PMID:34981086 {source="Europe PMC"} xref: PMID:35159430 {source="Europe PMC"} xref: PMID:35159592 {source="Europe PMC"} xref: PMID:35200459 {source="Europe PMC"} xref: PMID:35260323 {source="Europe PMC"} xref: PPDB:109 xref: SNOMEDCT:387377009 xref: SNOMEDCT:68395000 xref: Wikipedia:Calcium_Chloride is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "CaCl2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/Ca.2ClH/h;2*1H/q+2;;/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UXVMQQNJUSDDNG-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "110.98340" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "109.90030" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Cl-].[Cl-].[Ca++]" xsd:string [Term] id: CHEBI:33130 name: aluminium hydroxide namespace: chebi_ontology alt_id: CHEBI:30193 alt_id: CHEBI:31195 subset: 3_STAR synonym: "Al(OH)3" RELATED [ChEBI] synonym: "aluminium(3+) hydroxide" EXACT IUPAC_NAME [IUPAC] synonym: "aluminium(III) hydroxide" EXACT IUPAC_NAME [IUPAC] synonym: "Aluminiumhydroxid" RELATED [ChEBI] synonym: "Aluminum hydroxide" RELATED [KEGG_COMPOUND] synonym: "trihydroxidoaluminium" EXACT IUPAC_NAME [IUPAC] xref: CAS:21645-51-2 {source="ChemIDplus"} xref: CAS:21645-51-2 {source="NIST Chemistry WebBook"} xref: CAS:21645-51-2 {source="KEGG COMPOUND"} xref: Drug_Central:4250 {source="DrugCentral"} xref: Gmelin:22216 {source="Gmelin"} xref: KEGG:C13391 xref: KEGG:D02859 xref: Wikipedia:Aluminum_Hydroxide is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "AlH3O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "H3AlO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/Al.3H2O/h;3*1H2/q+3;;;/p-3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WNROFYMDJYEPJX-UHFFFAOYSA-K" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "78.00356" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "77.98976" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H]O[Al](O[H])O[H]" xsd:string [Term] id: CHEBI:33146 name: vanadyl sulfate namespace: chebi_ontology subset: 3_STAR synonym: "oxidovanadium(2+) sulfate" EXACT IUPAC_NAME [IUPAC] synonym: "oxo[sulfato(2-)-kappaO]-vanadium" RELATED [ChemIDplus] synonym: "oxo[sulfato(2-)-O]-vanadium" RELATED [ChemIDplus] synonym: "oxovanadium(2+) sulfate" EXACT IUPAC_NAME [IUPAC] synonym: "vanadic sulfate" RELATED [ChemIDplus] synonym: "vanadin(IV) oxide sulfate" RELATED [ChemIDplus] synonym: "vanadium oxide sulphate" RELATED [ChemIDplus] synonym: "vanadium oxysulfate" RELATED [ChemIDplus] xref: CAS:27774-13-6 {source="ChemIDplus"} xref: Gmelin:18096 {source="Gmelin"} xref: Wikipedia:Vanadyl_sulfate is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "O5SV" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/H2O4S.O.V/c1-5(2,3)4;;/h(H2,1,2,3,4);;/q;;+2/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UUUGYDOQQLOJQA-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "163.00450" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "162.89060" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O=[V++].[O-]S([O-])(=O)=O" xsd:string [Term] id: CHEBI:3319 name: calicheamicin gamma1(I) namespace: chebi_ontology alt_id: CHEBI:41431 def: "A calcheamicin in which contains 3-O-methyl-alpha-L-rhamnosyl, 2,6-dideoxy-4-thio-beta-D-ribo-hexopyranosyl, and 4-amino-4,6-dideoxy-2-O-[2,4-dideoxy-4-(ethylamino)-3-O-methyl-alpha-L-threo-pentopyranosyl]-alpha-L-idopyranose units and in which the aromatic ring contains an iodo substituent." [] subset: 3_STAR synonym: "Calicheamicin gamma(1)I" RELATED [KEGG_COMPOUND] synonym: "calicheamicin gamma(1)I" RELATED [ChemIDplus] synonym: "calicheamicin gamma(1,I)" RELATED [ChemIDplus] synonym: "calicheamicin gamma1" RELATED [ChEBI] synonym: "Calichemicin gamma1" RELATED [KEGG_COMPOUND] xref: CAS:108212-75-5 {source="ChemIDplus"} xref: CAS:108212-75-5 {source="KEGG COMPOUND"} xref: ChemIDplus:108212-75-5 xref: CiteXplore:12606118 xref: CiteXplore:15099529 xref: CiteXplore:1584797 xref: CiteXplore:2753814 xref: KEGG COMPOUND:108212-75-5 xref: KEGG COMPOUND:C11469 xref: KEGG:C11469 xref: MeSH:C055955 xref: PMID:12606118 {source="Europe PMC"} xref: PMID:15099529 {source="Europe PMC"} xref: PMID:1584797 {source="Europe PMC"} xref: PMID:2753814 {source="Europe PMC"} xref: Reaxys:9894883 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:33281 ! antimicrobial agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C55H74IN3O21S4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C55H74IN3O21S4/c1-12-57-30-24-73-35(22-34(30)68-6)78-48-43(63)40(26(3)75-53(48)77-33-17-15-13-14-16-19-55(67)23-32(61)41(58-54(66)72-10)38(33)29(55)18-20-82-84-81-11)59-80-36-21-31(60)50(28(5)74-36)83-51(65)37-25(2)39(56)46(49(71-9)45(37)69-7)79-52-44(64)47(70-8)42(62)27(4)76-52/h13-14,18,26-28,30-31,33-36,40,42-44,47-48,50,52-53,57,59-60,62-64,67H,12,20-24H2,1-11H3,(H,58,66)/b14-13-,29-18+/t26-,27-,28+,30-,31-,33-,34-,35-,36-,40+,42-,43-,44+,47+,48+,50+,52-,53-,55-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HXCHCVDVKSCDHU-LHTKNVSWSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "1368.34800" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "1367.27424" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]1(O[C@@H]2O[C@@H](C)[C@@H](NO[C@H]3C[C@H](O)[C@H](SC(=O)c4c(C)c(I)c(O[C@@H]5O[C@@H](C)[C@H](O)[C@@H](OC)[C@H]5O)c(OC)c4OC)[C@@H](C)O3)[C@H](O)[C@H]2O[C@H]2C[C@H](OC)[C@H](CO2)NCC)C#C\\C=C/C#C[C@]2(O)CC(=O)C(NC(=O)OC)=C1/C2=C\\CSSSC" xsd:string [Term] id: CHEBI:33216 name: bisphenol A namespace: chebi_ontology alt_id: CHEBI:22900 alt_id: CHEBI:31295 alt_id: CHEBI:47094 def: "A bisphenol that is 4,4'-methanediyldiphenol in which the methylene hydrogens are replaced by two methyl groups." [] subset: 3_STAR synonym: "2, 2-Bis(4-hydroxyphenyl)propane" RELATED [HMDB] synonym: "2,2-Bis(4'-hydroxyphenyl)propane" RELATED [HMDB] synonym: "2,2-Bis(4-Hydroxyphenyl)propane" RELATED [KEGG_COMPOUND] synonym: "2,2-Bis(p-hydroxyphenyl)propane" RELATED [ChemIDplus] synonym: "2,2-Di(4-hydroxyphenyl)propane" RELATED [ChemIDplus] synonym: "2,2-Di(4-phenylol)propane" RELATED [ChemIDplus] synonym: "4,4'-(1-Methylethane-1,1-diyl)diphenol" RELATED [HMDB] synonym: "4,4'-(1-Methylethylidene)bisphenol" RELATED [ChemIDplus] synonym: "4,4'-(Propane-2,2-diyl)diphenol" RELATED [HMDB] synonym: "4,4'-(propane-2,2-diyl)diphenol" EXACT IUPAC_NAME [IUPAC] synonym: "4,4'-Bisphenol A" RELATED [ChemIDplus] synonym: "4,4'-Isopropylidenediphenol" RELATED [ChemIDplus] synonym: "Bisphenol A" EXACT [KEGG_COMPOUND] synonym: "bisphenol A" EXACT [UniProt] synonym: "bisphenol-A" RELATED [ChEBI] synonym: "BPA" RELATED [HMDB] synonym: "Dianin's compound" RELATED [ChEBI] xref: CAS:80-05-7 {source="NIST Chemistry WebBook"} xref: CAS:80-05-7 {source="ChemIDplus"} xref: CAS:80-05-7 {source="KEGG COMPOUND"} xref: DrugBank:DB06973 xref: HMDB:HMDB0032133 xref: KEGG:C13624 xref: LINCS:LSM-37080 xref: MeSH:C006780 xref: PDBeChem:2OH xref: PMID:10593191 {source="Europe PMC"} xref: PMID:11361040 {source="Europe PMC"} xref: PMID:12860292 {source="Europe PMC"} xref: PMID:15936980 {source="Europe PMC"} xref: PMID:16904728 {source="Europe PMC"} xref: PMID:24471646 {source="Europe PMC"} xref: PMID:25042713 {source="Europe PMC"} xref: PMID:25148994 {source="Europe PMC"} xref: PMID:25524584 {source="Europe PMC"} xref: PMID:25569640 {source="Europe PMC"} xref: PMID:25637671 {source="Europe PMC"} xref: PMID:25663485 {source="Europe PMC"} xref: Reaxys:1107700 {source="Reaxys"} xref: SNOMEDCT:255923006 xref: SNOMEDCT:411437004 xref: UM-BBD_compID:c0764 {source="UM-BBD"} xref: Wikipedia:Bisphenol_A is_a: CHEBI:33853 ! phenols property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C15H16O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C15H16O2/c1-15(2,11-3-7-13(16)8-4-11)12-5-9-14(17)10-6-12/h3-10,16-17H,1-2H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IISBACLAFKSPIT-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "228.291" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "228.11503" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)(C1=CC=C(O)C=C1)C1=CC=C(O)C=C1" xsd:string [Term] id: CHEBI:33229 name: vitamin (role) namespace: chebi_ontology alt_id: CHEBI:10004 alt_id: CHEBI:27305 def: "A biochemical role played by any micronutrient that is an organic compound. Vitamins are present in foods in small amounts and are essential to normal metabolism and biochemical functions, usually as coenzymes. The term \"vitamines\" (from vita + amines) was coined in 1912 by Casimir Funk, who believed that these compounds were amines." [] subset: 3_STAR synonym: "vitamin" RELATED [ChEBI] synonym: "vitamina" RELATED [ChEBI] synonym: "vitaminas" RELATED [ChEBI] synonym: "vitamine" RELATED [ChEBI] synonym: "vitamines" RELATED [ChEBI] synonym: "vitamins" RELATED [ChEBI] synonym: "vitaminum" RELATED [ChEBI] xref: NCIt:C944 xref: SNOMEDCT:87708000 xref: Wikipedia:Vitamin is_a: CHEBI:27027 ! micronutrient relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:33232 name: application namespace: chebi_ontology def: "Intended use of the molecular entity or part thereof by humans." [] subset: 3_STAR is_a: BFO:0000023 ! role [Term] id: CHEBI:33250 name: atom namespace: chebi_ontology alt_id: CHEBI:22671 alt_id: CHEBI:23907 def: "A chemical entity constituting the smallest component of an element having the chemical properties of the element." [] subset: 3_STAR synonym: "atom" EXACT IUPAC_NAME [IUPAC] synonym: "atome" RELATED [IUPAC] synonym: "atomo" RELATED [IUPAC] synonym: "atoms" RELATED [ChEBI] synonym: "atomus" RELATED [ChEBI] synonym: "element" RELATED [ChEBI] synonym: "elements" RELATED [ChEBI] xref: MeSH:D004602 xref: NCIt:C1940 xref: NCIt:C48792 xref: SNOMEDCT:290004009 is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:33281 name: antimicrobial agent namespace: chebi_ontology alt_id: CHEBI:22582 def: "A substance that kills or slows the growth of microorganisms, including bacteria, viruses, fungi and protozoans." [] subset: 3_STAR synonym: "antibiotic" RELATED [ChEBI] synonym: "antibiotics" RELATED [ChEBI] synonym: "Antibiotika" RELATED [ChEBI] synonym: "Antibiotikum" RELATED [ChEBI] synonym: "antibiotique" RELATED [IUPAC] synonym: "antimicrobial" RELATED [ChEBI] synonym: "antimicrobial agents" RELATED [ChEBI] synonym: "antimicrobials" RELATED [ChEBI] synonym: "microbicide" RELATED [ChEBI] synonym: "microbicides" RELATED [ChEBI] xref: NCIt:C258 xref: PMID:12964249 {source="Europe PMC"} xref: PMID:22117953 {source="Europe PMC"} xref: PMID:22439833 {source="Europe PMC"} xref: PMID:22849268 {source="Europe PMC"} xref: PMID:22849276 {source="Europe PMC"} xref: PMID:22958833 {source="Europe PMC"} xref: SNOMEDCT:255631004 is_a: CHEBI:24432 ! biological role [Term] id: CHEBI:33284 name: nutrient namespace: chebi_ontology def: "A nutrient is a food component that an organism uses to survive and grow." [] subset: 3_STAR synonym: "nutrients" RELATED [ChEBI] xref: MO:867 xref: NCIt:C1814 xref: NCIt:C68603 xref: SNOMEDCT:226355009 is_a: EFO:0000523 ! growth condition [Term] id: CHEBI:33286 name: agrochemical namespace: chebi_ontology def: "An agrochemical is a substance that is used in agriculture or horticulture." [] subset: 3_STAR synonym: "agrichemical" RELATED [ChEBI] synonym: "agrichemicals" RELATED [ChEBI] synonym: "agricultural chemicals" RELATED [ChEBI] synonym: "agrochemicals" RELATED [ChEBI] xref: MeSH:D016573 xref: Wikipedia:Agrochemical is_a: CHEBI:33232 ! application is_a: CHEBI:51086 ! chemical role relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:33287 name: fertilizer namespace: chebi_ontology def: "A fertilizer is any substance that is added to soil or water to assist the growth of plants." [] subset: 3_STAR synonym: "fertiliser" RELATED [ChEBI] synonym: "fertilizers" RELATED [ChEBI] xref: SNOMEDCT:116517003 is_a: CHEBI:33286 ! agrochemical relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:33295 name: diagnostic agent namespace: chebi_ontology def: "A substance administered to aid diagnosis of a disease." [] subset: 3_STAR synonym: "diagnostic aid" RELATED [ChEBI] is_a: CHEBI:33232 ! application [Term] id: CHEBI:33364 name: platinum namespace: chebi_ontology subset: 3_STAR synonym: "78Pt" RELATED [IUPAC] synonym: "Platin" RELATED [ChEBI] synonym: "platine" RELATED [ChEBI] synonym: "platino" RELATED [ChEBI] synonym: "platinum" EXACT IUPAC_NAME [IUPAC] synonym: "Pt" RELATED [IUPAC] xref: CAS:7440-06-4 {source="NIST Chemistry WebBook"} xref: CAS:7440-06-4 {source="ChemIDplus"} xref: WebElements:Pt is_a: CHEBI:33250 ! atom property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "Pt" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/Pt" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BASFCYQUMIYNBI-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "195.078" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "194.96479" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Pt]" xsd:string [Term] id: CHEBI:3347 name: candesartan namespace: chebi_ontology def: "A benzimidazolecarboxylic acid that is 1H-benzimidazole-7-carboxylic acid substituted by an ethoxy group at position 2 and a ({2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl}methyl) group at position 1. It is a angiotensin receptor antagonist used for the treatment of hypertension." [] subset: 3_STAR synonym: "2-ethoxy-1-(p-(o-1H-tetrazol-5-ylphenyl)benzyl)-7-benzimidazolecarboxylic acid" RELATED [ChemIDplus] synonym: "2-ethoxy-1-({2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl}methyl)-1H-benzimidazole-7-carboxylic acid" EXACT IUPAC_NAME [IUPAC] synonym: "2-ethoxy-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-benzimidazole-7-carboxylic acid" RELATED [IUPAC] synonym: "2-ethoxy-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4ethyl]}-1H-benzimidazole-7-carboxylic acid" RELATED [IUPHAR] synonym: "Blopress" RELATED BRAND_NAME [KEGG_DRUG] synonym: "CV-11974" RELATED [ChemIDplus] xref: Beilstein:6377719 {source="Beilstein"} xref: CAS:139481-59-7 {source="ChemIDplus"} xref: CAS:139481-59-7 {source="KEGG COMPOUND"} xref: DrugBank:DB00796 xref: HMDB:HMDB0014934 xref: KEGG:C07468 xref: KEGG:D00522 xref: LINCS:LSM-5903 xref: MeSH:C081643 xref: NCIt:C65284 xref: Patent:EP459136 xref: Patent:US5196444 xref: PMID:23713902 {source="Europe PMC"} xref: PMID:24464858 {source="Europe PMC"} xref: Reaxys:6377719 {source="Reaxys"} xref: SNOMEDCT:108587008 xref: SNOMEDCT:372512008 xref: Wikipedia:Candesartan is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C24H20N6O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C24H20N6O3/c1-2-33-24-25-20-9-5-8-19(23(31)32)21(20)30(24)14-15-10-12-16(13-11-15)17-6-3-4-7-18(17)22-26-28-29-27-22/h3-13H,2,14H2,1H3,(H,31,32)(H,26,27,28,29)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HTQMVQVXFRQIKW-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "440.45424" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "440.15969" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCOc1nc2cccc(C(O)=O)c2n1Cc1ccc(cc1)-c1ccccc1-c1nnn[nH]1" xsd:string [Term] id: CHEBI:33508 name: glyceric acid namespace: chebi_ontology alt_id: CHEBI:24348 alt_id: CHEBI:24349 alt_id: CHEBI:33846 def: "A trionic acid that consists of propionic acid substituted at positions 2 and 3 by hydroxy groups." [] subset: 3_STAR synonym: "2,3-dihydroxypropanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "2,3-dihydroxypropionic acid" RELATED [ChEBI] synonym: "glyceric acid" EXACT [ChemIDplus] synonym: "Gro" RELATED [ChEBI] xref: Beilstein:1721417 {source="Beilstein"} xref: CAS:473-81-4 {source="ChemIDplus"} xref: Gmelin:164608 {source="Gmelin"} xref: PMID:14957916 {source="Europe PMC"} xref: PMID:17439666 {source="Europe PMC"} xref: PMID:21071844 {source="Europe PMC"} xref: PMID:21701101 {source="Europe PMC"} xref: PMID:21852749 {source="Europe PMC"} xref: PMID:22226201 {source="Europe PMC"} xref: Reaxys:1721417 {source="Reaxys"} xref: Wikipedia:Glyceric_acid is_a: CHEBI:16646 ! carbohydrate property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H6O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H6O4/c4-1-2(5)3(6)7/h2,4-5H,1H2,(H,6,7)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RBNPOMFGQQGHHO-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "106.07734" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "106.02661" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OCC(O)C(O)=O" xsd:string [Term] id: CHEBI:33527 name: ribonate namespace: chebi_ontology subset: 3_STAR is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:33568 name: adrenaline namespace: chebi_ontology def: "A racemate comprising equimolar amounts of (R)-adrenaline and (S)-adrenaline." [] subset: 3_STAR synonym: "(+-)-adrenaline" RELATED [IUPHAR] synonym: "(+-)-epinephrine" RELATED [ChemIDplus] synonym: "2-(methylamino)-1-(3,4-dihydroxyphenyl)ethanol" RELATED [ChemIDplus] synonym: "dl-adrenaline" RELATED [ChemIDplus] synonym: "epinephrine racemic" RELATED [ChemIDplus] synonym: "rac-4-[1-hydroxy-2-(methylamino)ethyl]benzene-1,2-diol" EXACT IUPAC_NAME [IUPAC] synonym: "rac-adrenaline" RELATED [ChEBI] synonym: "racemic adrenaline" RELATED [ChEBI] synonym: "racepinefrina" RELATED INN [ChemIDplus] synonym: "racepinefrine" RELATED INN [ChemIDplus] synonym: "racepinefrinum" RELATED INN [ChemIDplus] xref: Beilstein:2212160 {source="ChemIDplus"} xref: CAS:329-65-7 {source="ChemIDplus"} xref: Drug_Central:4508 {source="DrugCentral"} xref: Gmelin:51559 {source="Gmelin"} xref: LINCS:LSM-4958 xref: PMID:10052027 {source="Europe PMC"} xref: PMID:24252294 {source="Europe PMC"} xref: PMID:24719616 {source="Europe PMC"} xref: Reaxys:2212160 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity relationship: has_role EFO:0001824 ! hormone role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H13NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "183.207" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "183.08954" xsd:string [Term] id: CHEBI:33697 name: ribonucleic acid namespace: chebi_ontology def: "High molecular weight, linear polymers, composed of nucleotides containing ribose and linked by phosphodiester bonds; RNA is central to the synthesis of proteins." [] subset: 3_STAR synonym: "pentosenucleic acids" RELATED [ChemIDplus] synonym: "ribonucleic acid" EXACT [IUPAC] synonym: "ribonucleic acids" EXACT IUPAC_NAME [IUPAC] synonym: "ribonucleic acids" RELATED [ChEBI] synonym: "Ribonukleinsaeure" RELATED [ChEBI] synonym: "ribose nucleic acid" RELATED [ChEBI] synonym: "RNA" RELATED [UniProt] synonym: "RNA" RELATED [IUPAC] synonym: "RNS" RELATED [ChEBI] synonym: "yeast nucleic acid" RELATED [ChEBI] xref: CAS:63231-63-0 {source="ChemIDplus"} xref: MeSH:D012313 xref: MO:594 xref: NCIt:C812 xref: NIFSTD:sao1843715402 xref: SNOMEDCT:27888000 is_a: CHEBI:24532 ! organic heterocyclic compound is_a: EFO:0004446 ! biological macromolecule [Term] id: CHEBI:33699 name: messenger RNA namespace: chebi_ontology def: "An RNA molecule that transfers the coding information for protein synthesis from the chromosomes to the ribosomes mRNA is formed from a DNA template by transcription. It may be a copy of a single gene or of several adjacent genes (polycistronic mRNA). On the ribosome, the sequence is converted into the programmed amino acid sequence through translation." [] subset: 3_STAR synonym: "messenger RNA" EXACT IUPAC_NAME [IUPAC] synonym: "mRNA" RELATED [UniProt] synonym: "mRNA" RELATED [IUPAC] synonym: "template RNA" RELATED [ChEBI] xref: NCIt:C813 xref: SNOMEDCT:69908008 is_a: CHEBI:33697 ! ribonucleic acid [Term] id: CHEBI:33709 name: amino acid namespace: chebi_ontology alt_id: CHEBI:13815 alt_id: CHEBI:22477 def: "A carboxylic acid containing one or more amino groups." [] subset: 3_STAR synonym: "amino acids" RELATED [ChEBI] synonym: "Aminocarbonsaeure" RELATED [ChEBI] synonym: "Aminokarbonsaeure" RELATED [ChEBI] synonym: "Aminosaeure" RELATED [ChEBI] xref: MeSH:D000596 xref: NCIt:C231 xref: SNOMEDCT:52518006 xref: Wikipedia:Amino_acid is_a: EFO:0004416 ! acid [Term] id: CHEBI:3380 name: captopril namespace: chebi_ontology def: "A L-proline derivative in which L-proline is substituted on nitrogen with a (2S)-2-methyl-3-sulfanylpropanoyl group. It is used as an anti-hypertensive ACE inhibitor drug." [] subset: 3_STAR synonym: "(2S)-1-[(2S)-2-methyl-3-sulfanylpropanoyl]pyrrolidine-2-carboxylic acid" RELATED [ChEBI] synonym: "1-[(2S)-2-methyl-3-sulfanylpropanoyl]-L-proline" EXACT IUPAC_NAME [IUPAC] synonym: "Acepress" RELATED BRAND_NAME [DrugBank] synonym: "Apopril" RELATED BRAND_NAME [DrugBank] synonym: "Capoten" RELATED BRAND_NAME [DrugBank] synonym: "Captolane" RELATED BRAND_NAME [DrugBank] synonym: "captopril" RELATED INN [ChemIDplus] synonym: "captoprilum" RELATED INN [ChemIDplus] synonym: "Captopryl" RELATED [DrugBank] synonym: "Captoril" RELATED BRAND_NAME [DrugBank] synonym: "Cesplon" RELATED BRAND_NAME [DrugBank] synonym: "CP" RELATED [ChEBI] synonym: "D-2-methyl-3-mercaptopropanoyl-L-proline" RELATED [ChemIDplus] synonym: "D-3-mercapto-2-methylpropanoyl-L-proline" RELATED [ChemIDplus] synonym: "Dilabar" RELATED BRAND_NAME [DrugBank] synonym: "Garranil" RELATED BRAND_NAME [DrugBank] synonym: "Hypertil" RELATED BRAND_NAME [DrugBank] synonym: "L-Captopril" RELATED [DrugBank] synonym: "Lopirin" RELATED BRAND_NAME [DrugBank] synonym: "Tenosbon" RELATED BRAND_NAME [DrugBank] synonym: "Tensobon" RELATED BRAND_NAME [DrugBank] synonym: "Tensoprel" RELATED BRAND_NAME [DrugBank] xref: Beilstein:477887 {source="Beilstein"} xref: CAS:62571-86-2 {source="KEGG DRUG"} xref: CAS:62571-86-2 {source="NIST Chemistry WebBook"} xref: CAS:62571-86-2 {source="ChemIDplus"} xref: Drug_Central:484 {source="DrugCentral"} xref: DrugBank:DB01197 xref: KEGG:D00251 xref: LINCS:LSM-5648 xref: Patent:US4046889 xref: Patent:US4105776 xref: PMID:23137627 {source="Europe PMC"} xref: PMID:23161035 {source="Europe PMC"} xref: PMID:23278692 {source="Europe PMC"} xref: PMID:23299024 {source="Europe PMC"} xref: PMID:23328620 {source="Europe PMC"} xref: PMID:23397376 {source="Europe PMC"} xref: PMID:23410042 {source="Europe PMC"} xref: PMID:23422724 {source="Europe PMC"} xref: PMID:23429803 {source="Europe PMC"} xref: PMID:23435971 {source="Europe PMC"} xref: PMID:2420897 {source="Europe PMC"} xref: Wikipedia:Captopril is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H15NO3S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H15NO3S/c1-6(5-14)8(11)10-4-2-3-7(10)9(12)13/h6-7,14H,2-5H2,1H3,(H,12,13)/t6-,7+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FAKRSMQSSFJEIM-RQJHMYQMSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "217.28500" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "217.07726" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[C@H](CS)C(=O)N1CCC[C@H]1C(O)=O" xsd:string [Term] id: CHEBI:33853 name: phenols namespace: chebi_ontology alt_id: CHEBI:13664 alt_id: CHEBI:13825 alt_id: CHEBI:25969 alt_id: CHEBI:2857 def: "Organic aromatic compounds having one or more hydroxy groups attached to a benzene or other arene ring." [] subset: 3_STAR synonym: "a phenol" RELATED [UniProt] synonym: "arenols" RELATED [IUPAC] synonym: "Aryl alcohol" RELATED [KEGG_COMPOUND] synonym: "phenols" EXACT IUPAC_NAME [IUPAC] xref: KEGG:C15584 xref: MetaCyc:Phenols xref: Wikipedia:Phenols is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6HOR5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "89.072" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "89.00274" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C1(=C(C(=C(C(=C1*)*)*)*)*)O" xsd:string [Term] id: CHEBI:3387 name: carbamazepine namespace: chebi_ontology alt_id: CHEBI:115086 def: "A dibenzoazepine that is 5H-dibenzo[b,f]azepine carrying a carbamoyl substituent at the azepine nitrogen, used as an anticonvulsant." [] subset: 3_STAR synonym: "5-Carbamoyl-5H-dibenz(b,f)azepine" RELATED [ChemIDplus] synonym: "5-carbamoyl-5H-dibenz[b,f]azepine" RELATED [NIST_Chemistry_WebBook] synonym: "5-Carbamoyl-5H-dibenzo(b,f)azepine" RELATED [ChemIDplus] synonym: "5-Carbamyl-5H-dibenzo(b,f)azepine" RELATED [ChemIDplus] synonym: "5H-Dibenz(b,f)azepine-5-carboxamide" RELATED [ChemIDplus] synonym: "5H-dibenzo[b,f]azepine-5-carboxamide" EXACT IUPAC_NAME [IUPAC] synonym: "Carbamazepen" RELATED [ChemIDplus] synonym: "carbamazepina" RELATED INN [ChemIDplus] synonym: "carbamazepine" RELATED INN [ChemIDplus] synonym: "carbamazepinum" RELATED INN [ChemIDplus] synonym: "Carnexiv" RELATED BRAND_NAME [ChemIDplus] xref: Beilstein:1246090 {source="Beilstein"} xref: CAS:298-46-4 {source="NIST Chemistry WebBook"} xref: CAS:298-46-4 {source="ChemIDplus"} xref: CAS:298-46-4 {source="KEGG COMPOUND"} xref: Drug_Central:489 {source="DrugCentral"} xref: DrugBank:DB00564 xref: HMDB:HMDB0014704 xref: KEGG:C06868 xref: KEGG:D00252 xref: LINCS:LSM-3610 xref: MeSH:D002220 xref: NCIt:C341 xref: Patent:US2004220187 xref: Patent:US2007167446 xref: Patent:US2011177136 xref: Patent:US2011245283 xref: Patent:US2948718 xref: PMID:10411478 {source="ChEMBL"} xref: PMID:11071486 {source="Europe PMC"} xref: PMID:11129121 {source="Europe PMC"} xref: PMID:11240598 {source="Europe PMC"} xref: PMID:11475584 {source="Europe PMC"} xref: PMID:11595204 {source="Europe PMC"} xref: PMID:11888243 {source="Europe PMC"} xref: PMID:11891095 {source="Europe PMC"} xref: PMID:12073283 {source="Europe PMC"} xref: PMID:12228880 {source="Europe PMC"} xref: PMID:12475188 {source="Europe PMC"} xref: PMID:12749779 {source="Europe PMC"} xref: PMID:12799799 {source="Europe PMC"} xref: PMID:12957643 {source="Europe PMC"} xref: PMID:14160216 {source="Europe PMC"} xref: PMID:14572037 {source="Europe PMC"} xref: PMID:14581052 {source="Europe PMC"} xref: PMID:14713026 {source="Europe PMC"} xref: PMID:14723323 {source="Europe PMC"} xref: PMID:15165631 {source="Europe PMC"} xref: PMID:15557493 {source="Europe PMC"} xref: PMID:15665743 {source="Europe PMC"} xref: PMID:15683742 {source="Europe PMC"} xref: PMID:15739418 {source="Europe PMC"} xref: PMID:15820347 {source="Europe PMC"} xref: PMID:15850602 {source="Europe PMC"} xref: PMID:16033627 {source="Europe PMC"} xref: PMID:16150575 {source="Europe PMC"} xref: PMID:16245817 {source="Europe PMC"} xref: PMID:16380297 {source="Europe PMC"} xref: PMID:16394456 {source="Europe PMC"} xref: PMID:16437428 {source="Europe PMC"} xref: PMID:16538175 {source="Europe PMC"} xref: PMID:16562645 {source="Europe PMC"} xref: PMID:16616830 {source="Europe PMC"} xref: PMID:16990009 {source="Europe PMC"} xref: PMID:17027750 {source="Europe PMC"} xref: PMID:17028629 {source="Europe PMC"} xref: PMID:17207414 {source="Europe PMC"} xref: PMID:17582711 {source="Europe PMC"} xref: PMID:17873967 {source="Europe PMC"} xref: PMID:17949959 {source="Europe PMC"} xref: PMID:18163657 {source="Europe PMC"} xref: PMID:18415623 {source="Europe PMC"} xref: PMID:18637155 {source="Europe PMC"} xref: PMID:18652684 {source="Europe PMC"} xref: PMID:18656520 {source="Europe PMC"} xref: PMID:18969759 {source="Europe PMC"} xref: PMID:19135617 {source="Europe PMC"} xref: PMID:19473818 {source="Europe PMC"} xref: PMID:19741433 {source="Europe PMC"} xref: PMID:19921623 {source="Europe PMC"} xref: PMID:22322005 {source="Europe PMC"} xref: PMID:27967303 {source="Europe PMC"} xref: PMID:7602118 {source="Europe PMC"} xref: Reaxys:1246090 {source="Reaxys"} xref: SNOMEDCT:387222003 xref: SNOMEDCT:40820003 xref: Wikipedia:Carbamazepine is_a: CHEBI:47804 ! dibenzoazepine relationship: has_role CHEBI:35623 ! anticonvulsant property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C15H12N2O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C15H12N2O/c16-15(18)17-13-7-3-1-5-11(13)9-10-12-6-2-4-8-14(12)17/h1-10H,(H2,16,18)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FFGPTBGBLSHEPO-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "236.26860" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "236.09496" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NC(=O)N1c2ccccc2C=Cc2ccccc12" xsd:string [Term] id: CHEBI:33871 name: glycerate namespace: chebi_ontology def: "A hydroxy monocarboxylic acid anion that is the conjugate base of glyceric acid, obtained by deprotonation of the carboxy group." [] subset: 3_STAR xref: Reaxys:3602204 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H5O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H6O4/c4-1-2(5)3(6)7/h2,4-5H,1H2,(H,6,7)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RBNPOMFGQQGHHO-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "105.06940" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "105.01933" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OCC(O)C([O-])=O" xsd:string [Term] id: CHEBI:3390 name: carbaryl namespace: chebi_ontology def: "A carbamate ester obtained by the formal condensation of 1-naphthol with methylcarbamic acid." [] subset: 3_STAR synonym: "1-Naphthalenol, methylcarbamate" RELATED [ChemIDplus] synonym: "1-Naphthalenyl methylcarbamate" RELATED [ChemIDplus] synonym: "1-naphthol N-methylcarbamate" RELATED [ChEBI] synonym: "1-Naphthyl N-methylcarbamate" RELATED [ChEBI] synonym: "alpha-Naphthyl N-methylcarbamate" RELATED [ChEBI] synonym: "Carbaril" RELATED [KEGG_COMPOUND] synonym: "Carbaryl" EXACT [KEGG_COMPOUND] synonym: "carbaryl" EXACT [UniProt] synonym: "N-Methyl-1-naphthyl carbamate" RELATED [ChemIDplus] synonym: "N-Methyl-alpha-naphthylurethan" RELATED [ChemIDplus] synonym: "naphthalen-1-yl methylcarbamate" EXACT IUPAC_NAME [IUPAC] synonym: "Sevin" RELATED [ChemIDplus] xref: CAS:63-25-2 {source="ChemIDplus"} xref: CAS:63-25-2 {source="KEGG COMPOUND"} xref: CAS:63-25-2 {source="NIST Chemistry WebBook"} xref: Drug_Central:3066 {source="DrugCentral"} xref: KEGG:C07491 xref: KEGG:D07613 xref: LINCS:LSM-37123 xref: MeSH:D012721 xref: NCIt:C2803 xref: NCIt:C76389 xref: PMID:15092421 {source="Europe PMC"} xref: PMID:15092693 {source="Europe PMC"} xref: PMID:19025094 {source="Europe PMC"} xref: PPDB:115 xref: Reaxys:1875862 {source="Reaxys"} xref: SNOMEDCT:9021002 xref: Wikipedia:Carbaryl is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:24852 ! insecticide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12H11NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C12H11NO2/c1-13-12(14)15-11-8-4-6-9-5-2-3-7-10(9)11/h2-8H,1H3,(H,13,14)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CVXBEEMKQHEXEN-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "201.22128" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "201.07898" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CNC(=O)Oc1cccc2ccccc12" xsd:string [Term] id: CHEBI:34005 name: (9R,13R)-12-oxophytodienoic acid namespace: chebi_ontology def: "The (9R,13R)-diastereomer of 12-oxophytodienoic acid." [] subset: 3_STAR synonym: "8-{(1R,5R)-4-oxo-5-[(2Z)-pent-2-en-1-yl]cyclopent-2-en-1-yl}octanoic acid" EXACT IUPAC_NAME [IUPAC] xref: MeSH:C025999 is_a: CHEBI:35366 ! fatty acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H28O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H28O3/c1-2-3-7-11-16-15(13-14-17(16)19)10-8-5-4-6-9-12-18(20)21/h3,7,13-16H,2,4-6,8-12H2,1H3,(H,20,21)/b7-3-/t15-,16-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PMTMAFAPLCGXGK-GTOOTHNYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "292.41310" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "292.20384" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC\\C=C/C[C@@H]1[C@H](CCCCCCCC(O)=O)C=CC1=O" xsd:string [Term] id: CHEBI:34071 name: 1-arachidonoyl-sn-glycerol namespace: chebi_ontology def: "A 1-acyl-sn-glycerol where arachidonoyl forms the 1-acyl group." [] subset: 3_STAR synonym: "(2S)-2,3-dihydroxypropyl (5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoate" EXACT IUPAC_NAME [IUPAC] synonym: "(S)-glyceryl 1-arachidonate" RELATED [ChemIDplus] synonym: "1-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol" RELATED [UniProt] synonym: "1-Arachidonoyl-sn-glycerol" EXACT [KEGG_COMPOUND] synonym: "1-Arachidonoylglycerol" RELATED [KEGG_COMPOUND] xref: Beilstein:9806383 {source="Beilstein"} xref: CAS:124511-15-5 {source="ChemIDplus"} xref: KEGG:C13857 xref: Reaxys:9229411 {source="Reaxys"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C23H38O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C23H38O4/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-18-19-23(26)27-21-22(25)20-24/h6-7,9-10,12-13,15-16,22,24-25H,2-5,8,11,14,17-21H2,1H3/b7-6-,10-9-,13-12-,16-15-/t22-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DCPCOKIYJYGMDN-HUDVFFLJSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "378.54540" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "378.27701" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCC\\C=C/C\\C=C/C\\C=C/C\\C=C/CCCC(=O)OC[C@@H](O)CO" xsd:string [Term] id: CHEBI:34151 name: 12-oxo-ETE namespace: chebi_ontology def: "An oxoicosatetraenoic acid having a 12-oxo group; and (5Z)-, (8Z), (10E)- and (14Z)-double bonds." [] subset: 3_STAR synonym: "(5Z,8Z,10E,14Z)-12-Oxoeicosa-5,8,10,14-tetraenoic acid" RELATED [KEGG_COMPOUND] synonym: "(5Z,8Z,10E,14Z)-12-oxoeicosa-5,8,10,14-tetraenoic acid" RELATED [ChEBI] synonym: "(5Z,8Z,10E,14Z)-12-Oxoicosa-5,8,10,14-tetraenoic acid" RELATED [KEGG_COMPOUND] synonym: "(5Z,8Z,10E,14Z)-12-oxoicosa-5,8,10,14-tetraenoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "12-KETE" RELATED [KEGG_COMPOUND] synonym: "12-keto-ETE" RELATED [ChEBI] synonym: "12-ketoeicosatetraenoic acid" RELATED [ChEBI] synonym: "12-oxo, 5c,8c,10t,14c-20:4" RELATED [ChEBI] synonym: "12-oxo-ETE" EXACT [LIPID_MAPS] synonym: "12-OxoETE" RELATED [KEGG_COMPOUND] xref: CAS:108437-64-5 {source="KEGG COMPOUND"} xref: KEGG:C14807 xref: LIPID_MAPS_instance:LMFA03060019 {source="LIPID MAPS"} xref: PMID:10692117 {source="Europe PMC"} xref: Reaxys:6958033 {source="Reaxys"} is_a: CHEBI:35366 ! fatty acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H30O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H30O3/c1-2-3-4-5-10-13-16-19(21)17-14-11-8-6-7-9-12-15-18-20(22)23/h7-11,13-14,17H,2-6,12,15-16,18H2,1H3,(H,22,23)/b9-7-,11-8-,13-10-,17-14+" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GURBRQGDZZKITB-VXBMJZGYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "318.45040" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "318.21949" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCC\\C=C/CC(=O)\\C=C\\C=C/C\\C=C/CCCC(O)=O" xsd:string [Term] id: CHEBI:34165 name: 16-Ketoestradiol namespace: chebi_ontology subset: 2_STAR synonym: "16-Ketoestradiol" EXACT [KEGG_COMPOUND] synonym: "16-Oxo-17beta-estradiol" RELATED [KEGG_COMPOUND] xref: CAS:566-75-6 {source="KEGG COMPOUND"} xref: HMDB:HMDB0000406 xref: KEGG:C14383 is_a: CHEBI:35341 ! steroid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H22O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H22O3/c1-18-7-6-13-12-5-3-11(19)8-10(12)2-4-14(13)15(18)9-16(20)17(18)21/h3,5,8,13-15,17,19,21H,2,4,6-7,9H2,1H3/t13-,14-,15+,17+,18+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KJDGFQJCHFJTRH-YONAWACDSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "286.366" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "286.15689" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[C@]12CC[C@H]3[C@@H](CCc4cc(O)ccc34)[C@@H]1CC(=O)[C@@H]2O" xsd:string [Term] id: CHEBI:3440 name: carvacrol namespace: chebi_ontology def: "A phenol that is a natural monoterpene derivative of cymene. An inhibitor of bacterial growth, it is used as a food additive. Potent activator of the human ion channels transient receptor potential V3 (TRPV3) and A1 (TRPA1)." [] subset: 3_STAR synonym: "1-Hydroxy-2-methyl-5-isopropylbenzene" RELATED [ChemIDplus] synonym: "1-Methyl-2-hydroxy-4-isopropylbenzene" RELATED [ChemIDplus] synonym: "2-Hydroxy-p-cymene" RELATED [ChemIDplus] synonym: "2-Methyl-5-(1-methylethyl)phenol" RELATED [ChemIDplus] synonym: "2-methyl-5-(propan-2-yl)phenol" EXACT IUPAC_NAME [IUPAC] synonym: "2-Methyl-5-isopropylphenol" RELATED [ChemIDplus] synonym: "2-p-Cymenol" RELATED [ChemIDplus] synonym: "3-Isopropyl-6-methylphenol" RELATED [ChemIDplus] synonym: "5-Isopropyl-2-methylphenol" RELATED [ChemIDplus] synonym: "5-Isopropyl-o-cresol" RELATED [ChemIDplus] synonym: "Carvacrol" EXACT [KEGG_COMPOUND] synonym: "carvacrol" EXACT [UniProt] xref: Beilstein:1860514 {source="ChemIDplus"} xref: CAS:499-75-2 {source="NIST Chemistry WebBook"} xref: CAS:499-75-2 {source="KEGG COMPOUND"} xref: CAS:499-75-2 {source="ChemIDplus"} xref: ChEMBL:138580 xref: ChemIDplus:1860514 xref: ChemIDplus:499-75-2 xref: CiteXplore:21447440 xref: CiteXplore:21544887 xref: CiteXplore:21815724 xref: CiteXplore:21879312 xref: CiteXplore:21938469 xref: CiteXplore:22002497 xref: CiteXplore:22129102 xref: CiteXplore:22139435 xref: CiteXplore:22183117 xref: CiteXplore:22273461 xref: CiteXplore:22289589 xref: CiteXplore:22305883 xref: CiteXplore:22308777 xref: CiteXplore:22328722 xref: KEGG COMPOUND:499-75-2 xref: KEGG COMPOUND:C09840 xref: KEGG:C09840 xref: KNApSAcK:C00000156 xref: LIPID_MAPS_instance:LMPR0102090017 {source="LIPID MAPS"} xref: MeSH:C073316 xref: NCIt:C83602 xref: NIST Chemistry WebBook:499-75-2 xref: PMID:21447440 {source="Europe PMC"} xref: PMID:21544887 {source="Europe PMC"} xref: PMID:21815724 {source="Europe PMC"} xref: PMID:21879312 {source="Europe PMC"} xref: PMID:21938469 {source="Europe PMC"} xref: PMID:22002497 {source="Europe PMC"} xref: PMID:22129102 {source="Europe PMC"} xref: PMID:22139435 {source="Europe PMC"} xref: PMID:22183117 {source="Europe PMC"} xref: PMID:22273461 {source="Europe PMC"} xref: PMID:22289589 {source="Europe PMC"} xref: PMID:22305883 {source="Europe PMC"} xref: PMID:22308777 {source="Europe PMC"} xref: PMID:22328722 {source="Europe PMC"} xref: SNOMEDCT:109231009 xref: Wikipedia:Carvacrol is_a: CHEBI:24913 ! isoprenoid is_a: CHEBI:33853 ! phenols relationship: has_role CHEBI:33281 ! antimicrobial agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H14O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H14O/c1-7(2)9-5-4-8(3)10(11)6-9/h4-7,11H,1-3H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RECUKUPTGUEGMW-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "150.21760" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "150.10447" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)c1ccc(C)c(O)c1" xsd:string [Term] id: CHEBI:34440 name: 4-nonylphenol namespace: chebi_ontology def: "A member of the class of phenols that is phenol which is para-substituted with a nonyl group." [] subset: 3_STAR synonym: "4-n-Nonylphenol" RELATED [KEGG_COMPOUND] synonym: "4-Nonylphenol" EXACT [KEGG_COMPOUND] synonym: "4-nonylphenol" EXACT IUPAC_NAME [IUPAC] synonym: "p-n-Nonylphenol" RELATED [ChemIDplus] synonym: "p-Nonylphenol" RELATED [KEGG_COMPOUND] synonym: "para Nonyl phenol" RELATED [NIST_Chemistry_WebBook] xref: CAS:104-40-5 {source="ChemIDplus"} xref: CAS:104-40-5 {source="NIST Chemistry WebBook"} xref: CAS:104-40-5 {source="KEGG COMPOUND"} xref: ChEMBL:352564 xref: ChemIDplus:104-40-5 xref: CiteXplore:21823570 xref: CiteXplore:22133150 xref: HMDB:HMDB0038982 xref: KEGG COMPOUND:104-40-5 xref: KEGG COMPOUND:C14550 xref: KEGG:C14550 xref: LINCS:LSM-19987 xref: MeSH:C041594 xref: NIST Chemistry WebBook:104-40-5 xref: PMID:18506497 {source="Europe PMC"} xref: PMID:21823570 {source="Europe PMC"} xref: PMID:22133150 {source="Europe PMC"} xref: PMID:24805085 {source="Europe PMC"} xref: PPDB:1543 xref: Reaxys:2047450 {source="Reaxys"} is_a: CHEBI:33853 ! phenols property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C15H24O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C15H24O/c1-2-3-4-5-6-7-8-9-14-10-12-15(16)13-11-14/h10-13,16H,2-9H2,1H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IGFHQQFPSIBGKE-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "220.35046" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "220.18272" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCCCc1ccc(O)cc1" xsd:string [Term] id: CHEBI:34631 name: chlorpyrifos namespace: chebi_ontology def: "An organic thiophosphate that is O,O-diethyl hydrogen phosphorothioate in which the hydrogen of the hydroxy group has been replaced by a 3,5,6-trichloropyridin-2-yl group." [] subset: 3_STAR synonym: "Bolton" RELATED BRAND_NAME [ChEBI] synonym: "Brodan" RELATED BRAND_NAME [ChemIDplus] synonym: "Chlorpyrifos" EXACT [KEGG_COMPOUND] synonym: "chlorpyrifos" EXACT [UniProt] synonym: "chlorpyrifos ethyl" RELATED [ChemIDplus] synonym: "Chlorpyrifos-ethyl" RELATED [ChemIDplus] synonym: "Chlorpyriphos" RELATED [KEGG_COMPOUND] synonym: "Cobalt" RELATED BRAND_NAME [ChEBI] synonym: "Detmol" RELATED BRAND_NAME [ChemIDplus] synonym: "Dowco 179" RELATED BRAND_NAME [ChEBI] synonym: "Dursban" RELATED BRAND_NAME [ChemIDplus] synonym: "Empire" RELATED BRAND_NAME [ChEBI] synonym: "Equity" RELATED BRAND_NAME [ChEBI] synonym: "Eradex" RELATED BRAND_NAME [ChEBI] synonym: "Lentrek" RELATED BRAND_NAME [ChemIDplus] synonym: "Lock-On" RELATED BRAND_NAME [ChemIDplus] synonym: "Lorsban" RELATED BRAND_NAME [ChemIDplus] synonym: "m-Chlorpyrifos" RELATED [NIST_Chemistry_WebBook] synonym: "Nufos" RELATED BRAND_NAME [ChEBI] synonym: "O,O-diethyl O-(3,5,6-trichloropyridin-2-yl) phosphorothioate" EXACT IUPAC_NAME [IUPAC] synonym: "O,O-diethyl O-(3,5,6-trichloropyridin-2-yl) thiophosphate" RELATED [IUPAC] synonym: "o,o-Diethyl-o-(3,5,6-trichloro-2-pyridyl)phosphorothioate" RELATED [NIST_Chemistry_WebBook] synonym: "Phosphorothioic acid, O,O-diethyl O-(3,5,6-trichloro-2-pyridinyl) ester" RELATED [ChemIDplus] synonym: "Piridane" RELATED BRAND_NAME [ChemIDplus] synonym: "Stipend" RELATED BRAND_NAME [ChemIDplus] synonym: "Tricel" RELATED BRAND_NAME [ChEBI] synonym: "Trichlorpyrphos" RELATED [ChemIDplus] synonym: "Warhawk" RELATED BRAND_NAME [ChEBI] xref: Beilstein:1545756 {source="Beilstein"} xref: CAS:2921-88-2 {source="KEGG COMPOUND"} xref: CAS:2921-88-2 {source="ChemIDplus"} xref: CAS:2921-88-2 {source="NIST Chemistry WebBook"} xref: HMDB:HMDB0041856 xref: KEGG:C14322 xref: KEGG:D07688 xref: MeSH:D004390 xref: Pesticides:chlorpyrifos {source="Alan Wood's Pesticides"} xref: PMID:11882345 {source="Europe PMC"} xref: PMID:18166376 {source="Europe PMC"} xref: PMID:31152760 {source="Europe PMC"} xref: PPDB:154 xref: Reaxys:1545756 {source="Reaxys"} xref: SNOMEDCT:31480004 xref: Wikipedia:Chlorpyrifos is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:26020 ! phosphate relationship: has_role CHEBI:33286 ! agrochemical relationship: has_role CHEBI:37733 ! EC 3.1.1.8 (cholinesterase) inhibitor relationship: has_role CHEBI:38462 ! EC 3.1.1.7 (acetylcholinesterase) inhibitor property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H11Cl3NO3PS" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H11Cl3NO3PS/c1-3-14-17(18,15-4-2)16-9-7(11)5-6(10)8(12)13-9/h5H,3-4H2,1-2H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SBPBAQFWLVIOKP-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "350.58644" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "348.92628" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCOP(=S)(OCC)Oc1nc(Cl)c(Cl)cc1Cl" xsd:string [Term] id: CHEBI:34648 name: clofibric acid namespace: chebi_ontology alt_id: CHEBI:73161 def: "A monocarboxylic acid that is isobutyric acid substituted at position 2 by a p-chlorophenoxy group. It is a metabolite of the drug clofibrate." [] subset: 3_STAR synonym: "2-(4-chlorophenoxy)-2-methylpropanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "2-(4-Chlorophenoxy)-2-methylpropionic acid" RELATED [ChemIDplus] synonym: "2-(p-Chlorophenoxy)-2-methylpropionic acid" RELATED [ChemIDplus] synonym: "2-(p-Chlorophenoxy)isobutyric acid" RELATED [ChemIDplus] synonym: "4-CPIB" RELATED [NIST_Chemistry_WebBook] synonym: "Acide (p-chlorophenoxy)-2 methyl-2 propionique" RELATED [ChemIDplus] synonym: "acide clofibrique" RELATED INN [ChemIDplus] synonym: "acido clofibrico" RELATED INN [ChemIDplus] synonym: "acidum clofibricum" RELATED INN [ChemIDplus] synonym: "alpha-(4-chlorophenoxy)-alpha-methylpropionic acid" RELATED [NIST_Chemistry_WebBook] synonym: "alpha-(p-chlorophenoxy)isobutyric acid" RELATED [NIST_Chemistry_WebBook] synonym: "Chlorfibrinic acid" RELATED [ChemIDplus] synonym: "Chlorofibrinic acid" RELATED [ChemIDplus] synonym: "Chlorophibrinic acid" RELATED [ChemIDplus] synonym: "Clofibrate free acid" RELATED [ChemIDplus] synonym: "Clofibric acid" EXACT [KEGG_COMPOUND] synonym: "clofibric acid" RELATED INN [ChemIDplus] synonym: "Clofibrinsaeure" RELATED [ChemIDplus] synonym: "CPIB" RELATED [NIST_Chemistry_WebBook] synonym: "PCIB" RELATED [NIST_Chemistry_WebBook] synonym: "PCPIB" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:1874067 {source="Beilstein"} xref: CAS:882-09-7 {source="NIST Chemistry WebBook"} xref: CAS:882-09-7 {source="ChemIDplus"} xref: CAS:882-09-7 {source="KEGG COMPOUND"} xref: ChEMBL:129390 xref: ChemIDplus:882-09-7 xref: Drug_Central:695 {source="DrugCentral"} xref: KEGG COMPOUND:882-09-7 xref: KEGG COMPOUND:C13700 xref: KEGG:C13700 xref: KEGG:D07723 xref: LINCS:LSM-2427 xref: MeSH:D002995 xref: NCIt:C81531 xref: NIST Chemistry WebBook:882-09-7 xref: Pesticides:clofibric%20acid {source="Alan Wood's Pesticides"} xref: PMID:16442995 {source="Europe PMC"} xref: PMID:17431116 {source="Europe PMC"} xref: PMID:23062606 {source="Europe PMC"} xref: PMID:23135717 {source="Europe PMC"} xref: PMID:23352585 {source="Europe PMC"} xref: PMID:7320112 {source="Europe PMC"} xref: PMID:8944746 {source="Europe PMC"} xref: PPDB:2940 xref: Reaxys:1874067 {source="Reaxys"} xref: Wikipedia:Clofibric_Acid xref: Wikipedia:Clofibric_acid is_a: EFO:0004416 ! acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H11ClO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H11ClO3/c1-10(2,9(12)13)14-8-5-3-7(11)4-6-8/h3-6H,1-2H3,(H,12,13)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "TXCGAZHTZHNUAI-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "214.64524" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "214.03967" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)(Oc1ccc(Cl)cc1)C(O)=O" xsd:string [Term] id: CHEBI:34682 name: diazinon namespace: chebi_ontology def: "A member of the class of pyrimidines that is pyrimidine carrying an isopropyl group at position 2, a methyl group at position 6 and a (diethoxyphosphorothioyl)oxy group at position 4." [] subset: 3_STAR synonym: "Diazinon" EXACT [KEGG_COMPOUND] synonym: "Dimpylate" RELATED [NIST_Chemistry_WebBook] synonym: "O,O-Diethyl 2-isopropyl-4-methylpyrimidyl-6-thiophosphate" RELATED [ChemIDplus] synonym: "O,O-Diethyl O-(2-isopropyl-4-methyl-6-pyrimidyl) thionophosphate" RELATED [ChemIDplus] synonym: "O,O-Diethyl O-(2-isopropyl-6-methyl-4-pyrimidinyl) phosphorothioate" RELATED [ChemIDplus] synonym: "O,O-diethyl O-[6-methyl-2-(1-methylethyl)pyrimidin-4-yl] thiophosphate" RELATED [IUPAC] synonym: "O,O-diethyl O-[6-methyl-2-(propan-2-yl)pyrimidin-4-yl] phosphorothioate" EXACT IUPAC_NAME [IUPAC] synonym: "Phosphorothioic acid, O,O-diethyl O-(6-methyl-2-(1-methylethyl)-4-pyrimidinyl) ester" RELATED [ChemIDplus] xref: Beilstein:273790 {source="Beilstein"} xref: CAS:333-41-5 {source="KEGG COMPOUND"} xref: CAS:333-41-5 {source="NIST Chemistry WebBook"} xref: CAS:333-41-5 {source="ChemIDplus"} xref: HMDB:HMDB0032943 xref: KEGG:C14324 xref: KEGG:D07856 xref: MetaCyc:CPD-8965 xref: Pesticides:diazinon {source="Alan Wood's Pesticides"} xref: PMID:14536034 {source="Europe PMC"} xref: PMID:18819606 {source="Europe PMC"} xref: PPDB:212 xref: Reaxys:273790 {source="Reaxys"} xref: VSDB:212 xref: Wikipedia:Diazinon is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:26020 ! phosphate property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12H21N2O3PS" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C12H21N2O3PS/c1-6-15-18(19,16-7-2)17-11-8-10(5)13-12(14-11)9(3)4/h8-9H,6-7H2,1-5H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FHIVAFMUCKRCQO-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "304.34658" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "304.10105" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCOP(=S)(OCC)Oc1cc(C)nc(n1)C(C)C" xsd:string [Term] id: CHEBI:34687 name: dibutyl phthalate namespace: chebi_ontology alt_id: CHEBI:535597 def: "A phthalate ester that is the diester obtained by the formal condensation of the carboxy groups of phthalic acid with two molecules of butan-1-ol. Although used extensively as a plasticiser, it is a ubiquitous environmental contaminant that poses a risk to humans." [] subset: 3_STAR synonym: "1,2-Benzenedicarboxylic acid dibutyl ester" RELATED [ChemIDplus] synonym: "Benzene-o-dicarboxylic acid di-n-butyl ester" RELATED [ChemIDplus] synonym: "Benzene-o-dicarboxylic acid di-n-butyl ester" RELATED [NIST_Chemistry_WebBook] synonym: "Benzenedicarboxylic acid dibutyl ester" RELATED [NIST_Chemistry_WebBook] synonym: "Butyl phthalate" RELATED [ChemIDplus] synonym: "DBP" RELATED [ChEBI] synonym: "Di-n-butyl phthalate" RELATED [KEGG_COMPOUND] synonym: "Dibutyl 1,2-benzenedicarboxylate" RELATED [KEGG_COMPOUND] synonym: "dibutyl benzene-1,2-dicarboxylate" EXACT IUPAC_NAME [IUPAC] synonym: "Dibutyl o-phthalate" RELATED [NIST_Chemistry_WebBook] synonym: "Dibutyl phthalate" EXACT [KEGG_COMPOUND] synonym: "Dibutyl-o-phthalate" RELATED [ChemIDplus] synonym: "n-Butyl phthalate" RELATED [ChemIDplus] synonym: "o-Benzenedicarboxylic acid dibutyl ester" RELATED [ChemIDplus] synonym: "o-Benzenedicarboxylic acid dibutyl ester" RELATED [NIST_Chemistry_WebBook] synonym: "Phthalic acid di-n-butyl ester" RELATED [NIST_Chemistry_WebBook] synonym: "Phthalic acid dibutyl ester" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:1914064 {source="Beilstein"} xref: CAS:84-74-2 {source="KEGG COMPOUND"} xref: CAS:84-74-2 {source="NIST Chemistry WebBook"} xref: CAS:84-74-2 {source="ChemIDplus"} xref: Drug_Central:4414 {source="DrugCentral"} xref: Gmelin:262569 {source="Gmelin"} xref: HMDB:HMDB0033244 xref: KEGG:C14214 xref: PMID:11133400 {source="Europe PMC"} xref: PMID:16232742 {source="Europe PMC"} xref: PMID:19840837 {source="Europe PMC"} xref: PMID:24213843 {source="Europe PMC"} xref: PMID:24468924 {source="Europe PMC"} xref: PMID:24616073 {source="Europe PMC"} xref: PMID:26730679 {source="Europe PMC"} xref: PMID:27655612 {source="Europe PMC"} xref: PMID:28102498 {source="Europe PMC"} xref: PMID:28363850 {source="Europe PMC"} xref: PMID:28486587 {source="Europe PMC"} xref: PMID:28566680 {source="Europe PMC"} xref: PMID:28580302 {source="Europe PMC"} xref: PMID:28753974 {source="Europe PMC"} xref: PMID:28822891 {source="Europe PMC"} xref: PMID:28823096 {source="Europe PMC"} xref: PPDB:2924 xref: Reaxys:1914064 {source="Reaxys"} xref: Wikipedia:Dibutyl_phthalate is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C16H22O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C16H22O4/c1-3-5-11-19-15(17)13-9-7-8-10-14(13)16(18)20-12-6-4-2/h7-10H,3-6,11-12H2,1-2H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DOIRQSBPFJWKBE-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "278.34350" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "278.15181" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCOC(=O)c1ccccc1C(=O)OCCCC" xsd:string [Term] id: CHEBI:34795 name: 3-isobutyl-1-methyl-7H-xanthine namespace: chebi_ontology subset: 3_STAR synonym: "1-methyl-3-(2-methylpropyl)-3,7-dihydro-1H-purine-2,6-dione" EXACT IUPAC_NAME [IUPAC] synonym: "1-methyl-3-(2-methylpropyl)-7H-purine-2,6-dione" RELATED [IUPHAR] synonym: "1-methyl-3-isobutylxanthine" RELATED [ChemIDplus] synonym: "3-isobutyl-1-methyl-3,7-dihydro-1H-purine-2,6-dione" RELATED [IUPAC] synonym: "3-isobutyl-1-methylxanthine" RELATED [IUPHAR] synonym: "3-Isobutyl-1-methyxanthine" RELATED [KEGG_COMPOUND] synonym: "IBMX" RELATED [KEGG_COMPOUND] xref: Beilstein:247859 {source="Beilstein"} xref: CAS:28822-58-4 {source="ChemIDplus"} xref: KEGG:C13708 xref: LINCS:LSM-24983 xref: PDBeChem:IBM is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H14N4O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H14N4O2/c1-6(2)4-14-8-7(11-5-12-8)9(15)13(3)10(14)16/h5-6H,4H2,1-3H3,(H,11,12)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "APIXJSLKIYYUKG-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "222.24392" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "222.11168" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)Cn1c2nc[nH]c2c(=O)n(C)c1=O" xsd:string [Term] id: CHEBI:34839 name: methoprene namespace: chebi_ontology subset: 3_STAR synonym: "(E,E)-1-Methylethyl 11-methoxy-3,7,11-trimethyl-2,4-dodecadienoate" RELATED [KEGG_COMPOUND] synonym: "(E,E)-11-methoxy-3,7,11-trimethyl-2,4-dodecadienoic acid 1-methylethyl ester" RELATED [ChemIDplus] synonym: "(E,E)-isopropyl 11-methoxy-3,7,11-trimethyl-2,4-dodecadienoate" RELATED [ChemIDplus] synonym: "isopropyl (2E,4E)-11-methoxy-3,7,11-trimethyldodeca-2,4-dienoate" RELATED [ChemIDplus] synonym: "isopropyl (EE)-(RS)-11-methoxy-3,7,11-trimethyldodeca-2,4-dienoate" RELATED [ChemIDplus] synonym: "Methoprene" EXACT [KEGG_COMPOUND] synonym: "propan-2-yl (2E,4E)-11-methoxy-3,7,11-trimethyldodeca-2,4-dienoate" EXACT IUPAC_NAME [IUPAC] synonym: "ZR 515" RELATED [ChemIDplus] xref: Beilstein:1913191 {source="Beilstein"} xref: CAS:40596-69-8 {source="ChemIDplus"} xref: CAS:40596-69-8 {source="KEGG COMPOUND"} xref: CAS:41205-06-5 {source="ChemIDplus"} xref: KEGG:C14308 xref: KEGG:D08200 xref: MeSH:D008726 xref: NCIt:C50378 xref: PPDB:1457 xref: VSDB:1457 is_a: CHEBI:24913 ! isoprenoid relationship: has_role EFO:0001824 ! hormone role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H34O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H34O3/c1-15(2)22-18(20)14-17(4)11-8-10-16(3)12-9-13-19(5,6)21-7/h8,11,14-16H,9-10,12-13H2,1-7H3/b11-8+,17-14+" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NFGXHKASABOEEW-LDRANXPESA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "310.47146" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "310.25079" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "COC(C)(C)CCCC(C)C\\C=C\\C(C)=C\\C(=O)OC(C)C" xsd:string [Term] id: CHEBI:34873 name: N-nitrosodiethylamine namespace: chebi_ontology def: "A nitrosamine that is N-ethylethanamine substituted by a nitroso group at the N-atom." [] subset: 3_STAR synonym: "1,1-diethyl-2-oxohydrazine" RELATED [NIST_Chemistry_WebBook] synonym: "DANA" RELATED [NIST_Chemistry_WebBook] synonym: "DEN" RELATED [NIST_Chemistry_WebBook] synonym: "Diethylnitrosamine" RELATED [KEGG_COMPOUND] synonym: "diethylnitrosoamine" RELATED [ChemIDplus] synonym: "N,N-diethylnitrosamine" RELATED [ChemIDplus] synonym: "N,N-diethylnitrosoamine" RELATED [ChemIDplus] synonym: "N-ethyl-N-nitrosoethanamine" EXACT IUPAC_NAME [IUPAC] synonym: "N-Nitrosodiethylamine" EXACT [KEGG_COMPOUND] synonym: "NDEA" RELATED [KEGG_COMPOUND] xref: Beilstein:1744991 {source="Beilstein"} xref: CAS:55-18-5 {source="NIST Chemistry WebBook"} xref: CAS:55-18-5 {source="ChemIDplus"} xref: CAS:55-18-5 {source="KEGG COMPOUND"} xref: KEGG:C14422 xref: PMID:24696076 {source="Europe PMC"} xref: PMID:24755254 {source="Europe PMC"} xref: Reaxys:1744991 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H10N2O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H10N2O/c1-3-6(4-2)5-7/h3-4H2,1-2H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WBNQDOYYEUMPFS-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "102.135" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "102.07931" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCN(CC)N=O" xsd:string [Term] id: CHEBI:34892 name: nocodazole namespace: chebi_ontology def: "A member of the class of benzimidazoles that is benzimidalole which is substituted at position 2 by a (methoxycarbonyl)amino group and at position 5 by a 2-thienoyl group. It is an antineoplastic agent that exerts its effect by depolymerising microtubules." [] subset: 3_STAR synonym: "(5-(2-thienylcarbonyl)-1H-benzimidazol-2-yl)-carbamic acid methyl ester" RELATED [ChemIDplus] synonym: "methyl (5-(2-thienylcarbonyl))-1H-benzimidazole-2-ylcarbamate" RELATED [ChemIDplus] synonym: "methyl [5-(2-thienylcarbonyl)-1H-benzimidazol-2-yl]carbamate" EXACT IUPAC_NAME [IUPAC] synonym: "methyl N-(5-thenoyl-2-benzimidazolyl)carbamate" RELATED [NIST_Chemistry_WebBook] synonym: "N-(5-(2-thenoyl)-2-benzimidazolyl)carbamic acid methyl ester" RELATED [ChemIDplus] synonym: "N-(5-(2-thienoyl)-2-benzimidazolyl)carbamic acid methyl ester" RELATED [NIST_Chemistry_WebBook] synonym: "nocodazol" RELATED INN [ChemIDplus] synonym: "nocodazole" RELATED INN [WHO_MedNet] synonym: "nocodazole" RELATED INN [KEGG_DRUG] synonym: "nocodazolum" RELATED INN [ChemIDplus] synonym: "oncodazole" RELATED [ChemIDplus] synonym: "R 17934" RELATED [ChemIDplus] synonym: "R-17934" RELATED [ChEBI] synonym: "R17,934" RELATED [ChemIDplus] xref: Beilstein:1085978 {source="Beilstein"} xref: CAS:31430-18-9 {source="ChemIDplus"} xref: CAS:31430-18-9 {source="NIST Chemistry WebBook"} xref: CAS:31430-18-9 {source="KEGG COMPOUND"} xref: DrugBank:DB08313 xref: KEGG:C13719 xref: KEGG:D05197 xref: LINCS:LSM-2260 xref: MeSH:D015739 xref: NCIt:C75228 xref: PDBeChem:NZO xref: PMID:11679255 {source="Europe PMC"} xref: PMID:20399776 {source="Europe PMC"} xref: PMID:22002881 {source="Europe PMC"} xref: PMID:23869451 {source="Europe PMC"} xref: PMID:518692 {source="Europe PMC"} xref: PMID:6384770 {source="Europe PMC"} xref: PMID:7199049 {source="Europe PMC"} xref: PMID:7284368 {source="Europe PMC"} xref: PMID:7344613 {source="Europe PMC"} xref: Reaxys:1085978 {source="Reaxys"} xref: Wikipedia:Nocodazole is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:35610 ! antineoplastic agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C14H11N3O3S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C14H11N3O3S/c1-20-14(19)17-13-15-9-5-4-8(7-10(9)16-13)12(18)11-3-2-6-21-11/h2-7H,1H3,(H2,15,16,17,19)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KYRVNWMVYQXFEU-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "301.32000" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "301.05211" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "COC(=O)Nc1nc2cc(ccc2[nH]1)C(=O)c1cccs1" xsd:string [Term] id: CHEBI:34905 name: paraquat namespace: chebi_ontology def: "An organic cation that consists of 4,4'-bipyridine bearing two N-methyl substituents loctated at the 1- and 1'-positions." [] subset: 3_STAR synonym: "1,1'-Dimethyl-4,4'-bipyridinium" RELATED [KEGG_COMPOUND] synonym: "1,1'-dimethyl-4,4'-bipyridyldiylium" RELATED [ChemIDplus] synonym: "1,1'-dimethyl-[4,4'-bipyridin]-1,1'-diium" EXACT IUPAC_NAME [IUPAC] synonym: "dimethyl viologen" RELATED [ChemIDplus] synonym: "methyl viologen ion(2+)" RELATED [ChemIDplus] synonym: "N,N'-dimethyl-4,4'-bipyridinium" RELATED [ChemIDplus] synonym: "N,N'-dimethyl-4,4'-bipyridinium dication" RELATED [ChemIDplus] synonym: "Paraquat" EXACT [KEGG_COMPOUND] synonym: "paraquat dication" RELATED [ChemIDplus] synonym: "paraquat ion" RELATED [ChemIDplus] xref: Beilstein:3590305 {source="Beilstein"} xref: CAS:4685-14-7 {source="ChemIDplus"} xref: CAS:4685-14-7 {source="NIST Chemistry WebBook"} xref: CAS:4685-14-7 {source="KEGG COMPOUND"} xref: Chemspider:15147 xref: FooDB:FDB011120 xref: Gmelin:51125 {source="Gmelin"} xref: KEGG:C14701 xref: MeSH:D010269 xref: NCIt:C2803 xref: Pesticides:paraquat {source="Alan Wood's Pesticides"} xref: PMID:11349957 {source="Europe PMC"} xref: PMID:18620719 {source="Europe PMC"} xref: PMID:20377249 {source="Europe PMC"} xref: PMID:20582739 {source="Europe PMC"} xref: PMID:21151885 {source="Europe PMC"} xref: PMID:21236547 {source="Europe PMC"} xref: PMID:21300143 {source="Europe PMC"} xref: PMID:21318114 {source="Europe PMC"} xref: PMID:21429624 {source="Europe PMC"} xref: PMID:21493003 {source="Europe PMC"} xref: PMID:21598522 {source="Europe PMC"} xref: PMID:21616728 {source="Europe PMC"} xref: PMID:21619794 {source="Europe PMC"} xref: PMID:21619822 {source="Europe PMC"} xref: PMID:21750730 {source="Europe PMC"} xref: PMID:21777615 {source="Europe PMC"} xref: PMID:21787677 {source="Europe PMC"} xref: PMID:21802509 {source="Europe PMC"} xref: PPDB:505 xref: Reaxys:3590305 {source="Reaxys"} xref: SNOMEDCT:22065005 is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:33286 ! agrochemical property_value: http://purl.obolibrary.org/obo/chebi/charge "+2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12H14N2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C12H14N2/c1-13-7-3-11(4-8-13)12-5-9-14(2)10-6-12/h3-10H,1-2H3/q+2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "INFDPOAKFNIJBF-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "186.25304" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "186.11460" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[n+]1ccc(cc1)-c1cc[n+](C)cc1" xsd:string [Term] id: CHEBI:34908 name: pentachloronitrobenzene namespace: chebi_ontology def: "A C-nitro compound that is nitrobenzene in which every hydrogen has been replaced by a chlorine. A fungicide used on a variety of crops, including cotton, rice and seed grains, it is no longer approved for use within the European Union." [] subset: 3_STAR synonym: "1,2,3,4,5-pentachloro-6-nitrobenzene" EXACT IUPAC_NAME [IUPAC] synonym: "2,3,4,5,6-pentachloronitrobenzene" RELATED [ChEBI] synonym: "Avicol" RELATED BRAND_NAME [NIST_Chemistry_WebBook] synonym: "Batrilex" RELATED BRAND_NAME [NIST_Chemistry_WebBook] synonym: "Botrilex" RELATED BRAND_NAME [NIST_Chemistry_WebBook] synonym: "Brassicol" RELATED BRAND_NAME [NIST_Chemistry_WebBook] synonym: "Earthcide" RELATED BRAND_NAME [NIST_Chemistry_WebBook] synonym: "Fartox" RELATED BRAND_NAME [NIST_Chemistry_WebBook] synonym: "Folosan" RELATED BRAND_NAME [NIST_Chemistry_WebBook] synonym: "Fungiclor" RELATED BRAND_NAME [NIST_Chemistry_WebBook] synonym: "nitropentachlorobenzene" RELATED [ChemIDplus] synonym: "PCNB" RELATED [KEGG_COMPOUND] synonym: "Pentachlornitrobenzol" RELATED [ChemIDplus] synonym: "pentachlornitrobenzol" RELATED [NIST_Chemistry_WebBook] synonym: "Pentachloronitrobenzene" EXACT [KEGG_COMPOUND] synonym: "Pentagen" RELATED BRAND_NAME [NIST_Chemistry_WebBook] synonym: "Phomasan" RELATED BRAND_NAME [NIST_Chemistry_WebBook] synonym: "PKhNC" RELATED [ChEBI] synonym: "Quintozene" RELATED [KEGG_COMPOUND] synonym: "Terrachlor" RELATED BRAND_NAME [NIST_Chemistry_WebBook] synonym: "Terraclor" RELATED BRAND_NAME [NIST_Chemistry_WebBook] synonym: "Terrafun" RELATED BRAND_NAME [NIST_Chemistry_WebBook] synonym: "Tilcarex" RELATED BRAND_NAME [NIST_Chemistry_WebBook] xref: AGR:IND86085618 {source="Europe PMC"} xref: CAS:82-68-8 {source="KEGG COMPOUND"} xref: CAS:82-68-8 {source="ChemIDplus"} xref: CAS:82-68-8 {source="NIST Chemistry WebBook"} xref: ChEMBL:542755 xref: ChemIDplus:82-68-8 xref: CiteXplore:18294675 xref: CiteXplore:19298997 xref: CiteXplore:19429557 xref: CiteXplore:19959285 xref: CiteXplore:20022079 xref: CiteXplore:20131084 xref: CiteXplore:20560598 xref: CiteXplore:22074892 xref: CiteXplore:22112041 xref: CiteXplore:3311683 xref: CiteXplore:7027636 xref: CiteXplore:7445521 xref: CiteXplore:IND86085618 xref: KEGG COMPOUND:82-68-8 xref: KEGG COMPOUND:C14338 xref: KEGG:C14338 xref: MeSH:C005805 xref: NIST Chemistry WebBook:82-68-8 xref: Patent:US7629159 xref: Pesticides:quintozene {source="Alan Wood's Pesticides"} xref: PMID:18294675 {source="Europe PMC"} xref: PMID:19298997 {source="Europe PMC"} xref: PMID:19429557 {source="Europe PMC"} xref: PMID:19959285 {source="Europe PMC"} xref: PMID:20022079 {source="Europe PMC"} xref: PMID:20131084 {source="Europe PMC"} xref: PMID:20560598 {source="Europe PMC"} xref: PMID:22074892 {source="Europe PMC"} xref: PMID:22112041 {source="Europe PMC"} xref: PMID:23454455 {source="Europe PMC"} xref: PMID:23474338 {source="Europe PMC"} xref: PMID:3311683 {source="Europe PMC"} xref: PMID:7027636 {source="Europe PMC"} xref: PMID:7445521 {source="Europe PMC"} xref: PPDB:581 xref: Reaxys:1914324 {source="Reaxys"} xref: SNOMEDCT:83672008 xref: Wikipedia:Pentachloronitrobenzene is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:24127 ! fungicide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6Cl5NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6Cl5NO2/c7-1-2(8)4(10)6(12(13)14)5(11)3(1)9" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LKPLKUMXSAEKID-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "295.33500" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "292.83717" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-][N+](=O)c1c(Cl)c(Cl)c(Cl)c(Cl)c1Cl" xsd:string [Term] id: CHEBI:34911 name: permethrin namespace: chebi_ontology def: "A cyclopropanecarboxylate ester in which the esterifying alcohol is 3-phenoxybenzyl alcohol and the cyclopropane ring is substituted with a 2,2-dichlorovinyl group and with gem-dimethyl groups." [] subset: 3_STAR synonym: "(3-Phenoxyphenyl)methyl (+-)-cis,trans-3-(2,2-dichloroethenyl)-2,2-dimethylcyclopropanecarboxylate" RELATED [ChemIDplus] synonym: "3-(2,2-Dichloroethenyl)-2,2-dimethylcyclopropane carboxylic acid, (3-phenoxyphenyl) methyl ester" RELATED [ChemIDplus] synonym: "3-phenoxybenzyl 3-(2,2-dichloroethenyl)-2,2-dimethylcyclopropanecarboxylate" EXACT IUPAC_NAME [IUPAC] synonym: "Permethrin" EXACT [KEGG_COMPOUND] synonym: "permethrin" RELATED INN [ChemIDplus] xref: CAS:52645-53-1 {source="ChemIDplus"} xref: CAS:52645-53-1 {source="KEGG COMPOUND"} xref: Drug_Central:4152 {source="DrugCentral"} xref: DrugBank:DB04930 xref: KEGG:C14388 xref: KEGG:D05443 xref: MeSH:D026023 xref: NCIt:C29354 xref: PMID:11082455 {source="Europe PMC"} xref: PMID:12419701 {source="Europe PMC"} xref: PMID:14617103 {source="Europe PMC"} xref: PMID:15599112 {source="Europe PMC"} xref: PMID:15663293 {source="Europe PMC"} xref: PMID:15966049 {source="Europe PMC"} xref: PMID:16423402 {source="Europe PMC"} xref: PMID:16481707 {source="Europe PMC"} xref: PMID:16599165 {source="Europe PMC"} xref: PMID:17140720 {source="Europe PMC"} xref: PMID:17220085 {source="Europe PMC"} xref: PMID:17451859 {source="Europe PMC"} xref: PMID:17597311 {source="Europe PMC"} xref: PMID:17980950 {source="Europe PMC"} xref: PMID:18274958 {source="Europe PMC"} xref: PMID:18570364 {source="Europe PMC"} xref: PMID:18692543 {source="Europe PMC"} xref: PMID:18723882 {source="Europe PMC"} xref: PMID:19079720 {source="Europe PMC"} xref: PMID:19090765 {source="Europe PMC"} xref: PMID:19278716 {source="Europe PMC"} xref: PMID:19343362 {source="Europe PMC"} xref: PMID:19835699 {source="Europe PMC"} xref: PMID:19962303 {source="Europe PMC"} xref: PMID:20960224 {source="Europe PMC"} xref: PMID:21069313 {source="Europe PMC"} xref: PMID:21133424 {source="Europe PMC"} xref: PMID:21235202 {source="Europe PMC"} xref: PMID:21240732 {source="Europe PMC"} xref: PMID:21251955 {source="Europe PMC"} xref: PMID:21352824 {source="Europe PMC"} xref: PMID:21485369 {source="Europe PMC"} xref: PMID:21756140 {source="Europe PMC"} xref: PMID:21809414 {source="Europe PMC"} xref: PMID:21812972 {source="Europe PMC"} xref: PMID:25042713 {source="Europe PMC"} xref: PPDB:515 xref: Reaxys:5765325 {source="Reaxys"} xref: SNOMEDCT:1887004 xref: SNOMEDCT:410457007 xref: VSDB:515 xref: Wikipedia:Permethrin is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:24852 ! insecticide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C21H20Cl2O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C21H20Cl2O3/c1-21(2)17(12-18(22)23)19(21)20(24)25-13-14-7-6-10-16(11-14)26-15-8-4-3-5-9-15/h3-12,17,19H,13H2,1-2H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RLLPVAHGXHCWKJ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "391.28710" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "390.07895" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC1(C)C(C=C(Cl)Cl)C1C(=O)OCc1cccc(Oc2ccccc2)c1" xsd:string [Term] id: CHEBI:34988 name: sulmazole namespace: chebi_ontology def: "An imidazopyridine that is 1H-imidazo[4,5-b]pyridine which is substituted at position 2 by a 2-methoxy-4-(methylsulfinyl)phenyl group. An A1 adenosine receptor antagonist, it was formerly used as a cardiotonic agent." [] subset: 3_STAR synonym: "2-[2-methoxy-4-(methylsulfinyl)phenyl]-1H-imidazo[4,5-b]pyridine" EXACT IUPAC_NAME [IUPAC] synonym: "2-[2-methoxy-4-(methylsulfinyl)phenyl]-3H-imidazo[4,5-b]pyridine" RELATED [ChemIDplus] synonym: "sulmazol" RELATED INN [ChemIDplus] synonym: "sulmazole" RELATED INN [ChemIDplus] synonym: "sulmazolum" RELATED INN [ChemIDplus] xref: CAS:73384-60-8 {source="ChemIDplus"} xref: CAS:73384-60-8 {source="KEGG COMPOUND"} xref: ChEMBL:141370 xref: ChemIDplus:73384-60-8 xref: Drug_Central:3574 {source="DrugCentral"} xref: KEGG COMPOUND:73384-60-8 xref: KEGG COMPOUND:C13749 xref: KEGG:C13749 xref: LINCS:LSM-4362 xref: MeSH:C029758 xref: NCIt:C84188 xref: Patent:NL7401254 xref: Patent:US3985891 is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:38147 ! cardiotonic drug property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C14H13N3O2S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C14H13N3O2S/c1-19-12-8-9(20(2)18)5-6-10(12)13-16-11-4-3-7-15-14(11)17-13/h3-8H,1-2H3,(H,15,16,17)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XMFCOYRWYYXZMY-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "287.33700" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "287.07285" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "COc1cc(ccc1-c1nc2ncccc2[nH]1)S(C)=O" xsd:string [Term] id: CHEBI:3515 name: cefuroxime namespace: chebi_ontology def: "A 3-(carbamoyloxymethyl)cephalosporin compound having a 7-(2Z)-2-(furan-2-yl)-2-(methoxyimino)acetamido side chain." [] subset: 3_STAR synonym: "(6R,7R)-3-[(carbamoyloxy)methyl]-7-{[(2Z)-2-furan-2-yl-2-(methoxyimino)acetyl]amino}-8-oxo-5-thia-1-azabicyclo[4.2.0]oct-2-ene-2-carboxylic acid" RELATED [IUPAC] synonym: "3-[(carbamoyloxy)methyl]-7beta-[(2Z)-2-(furan-2-yl)-2-(methoxyimino)acetamido]-3,4-didehydrocepham-4-carboxylic acid" EXACT IUPAC_NAME [IUPAC] synonym: "Cefuroxim" RELATED [ChemIDplus] synonym: "Cefuroxime" EXACT [KEGG_COMPOUND] synonym: "cefuroxime" RELATED INN [ChemIDplus] synonym: "cefuroximo" RELATED INN [ChemIDplus] synonym: "cefuroximum" RELATED INN [ChemIDplus] synonym: "Cephuroxime" RELATED [ChemIDplus] synonym: "Sharox" RELATED BRAND_NAME [ChemIDplus] synonym: "Zinacef Danmark" RELATED BRAND_NAME [ChemIDplus] xref: CAS:55268-75-2 {source="KEGG COMPOUND"} xref: CAS:55268-75-2 {source="ChemIDplus"} xref: Drug_Central:565 {source="DrugCentral"} xref: DrugBank:DB01112 xref: KEGG:C06894 xref: KEGG:D00262 xref: MeSH:D002444 xref: MetaCyc:CPD0-2069 xref: NCIt:C61669 xref: Patent:DE2439880 xref: Patent:DE2706413 xref: Patent:US3974153 xref: Patent:US4267320 xref: PMID:11168076 {source="Europe PMC"} xref: PMID:11322179 {source="Europe PMC"} xref: PMID:11581233 {source="Europe PMC"} xref: PMID:12141712 {source="Europe PMC"} xref: PMID:12235459 {source="Europe PMC"} xref: PMID:12833570 {source="Europe PMC"} xref: PMID:12898829 {source="Europe PMC"} xref: PMID:14658923 {source="Europe PMC"} xref: PMID:15052582 {source="Europe PMC"} xref: PMID:15828440 {source="Europe PMC"} xref: PMID:16341950 {source="Europe PMC"} xref: PMID:17111749 {source="Europe PMC"} xref: PMID:17113884 {source="Europe PMC"} xref: PMID:17261579 {source="Europe PMC"} xref: PMID:17366015 {source="Europe PMC"} xref: PMID:17676080 {source="Europe PMC"} xref: PMID:18208759 {source="Europe PMC"} xref: PMID:18611587 {source="Europe PMC"} xref: PMID:18795089 {source="Europe PMC"} xref: PMID:18931469 {source="Europe PMC"} xref: PMID:19069618 {source="Europe PMC"} xref: PMID:19142482 {source="Europe PMC"} xref: PMID:19411164 {source="Europe PMC"} xref: PMID:21425867 {source="Europe PMC"} xref: PMID:29017833 {source="Europe PMC"} xref: Reaxys:5783190 {source="Reaxys"} xref: SNOMEDCT:372833007 xref: SNOMEDCT:73986003 xref: Wikipedia:Cefuroxime is_a: CHEBI:35627 ! beta-lactam relationship: has_role CHEBI:33281 ! antimicrobial agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C16H16N4O8S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C16H16N4O8S/c1-26-19-9(8-3-2-4-27-8)12(21)18-10-13(22)20-11(15(23)24)7(5-28-16(17)25)6-29-14(10)20/h2-4,10,14H,5-6H2,1H3,(H2,17,25)(H,18,21)(H,23,24)/b19-9-/t10-,14-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JFPVXVDWJQMJEE-IZRZKJBUSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "424.38640" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "424.06888" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]12SCC(COC(N)=O)=C(N1C(=O)[C@H]2NC(=O)C(=N/OC)\\c1ccco1)C(O)=O" xsd:string [Term] id: CHEBI:35176 name: zinc sulfate namespace: chebi_ontology def: "A metal sulfate compound having zinc(2+) as the counterion." [] subset: 3_STAR synonym: "zinc sulfate" EXACT IUPAC_NAME [IUPAC] synonym: "zinc sulfate (1:1)" RELATED [ChemIDplus] synonym: "zinc sulfate anhydrous" RELATED [ChemIDplus] synonym: "zinc sulphate" RELATED [ChemIDplus] synonym: "zinc(2+) sulfate" RELATED [IUPAC] synonym: "zinc(II) sulfate" RELATED [IUPAC] synonym: "ZnSO4" RELATED [IUPAC] xref: CAS:7733-02-0 {source="ChemIDplus"} xref: Gmelin:18165 {source="Gmelin"} xref: MeSH:D019287 xref: NCIt:C1280 xref: PMID:10469300 {source="Europe PMC"} xref: PMID:16792750 {source="Europe PMC"} xref: PMID:23264166 {source="Europe PMC"} xref: PMID:23271682 {source="Europe PMC"} xref: PMID:23282999 {source="Europe PMC"} xref: PMID:23356505 {source="Europe PMC"} xref: PMID:23689708 {source="Europe PMC"} xref: PMID:23720981 {source="Europe PMC"} xref: PMID:8566016 {source="Europe PMC"} xref: SNOMEDCT:387367007 xref: SNOMEDCT:6625006 xref: VSDB:1860 xref: Wikipedia:Zinc_Sulfate is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "O4SZn" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/H2O4S.Zn/c1-5(2,3)4;/h(H2,1,2,3,4);/q;+2/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NWONKYPBYAMBJT-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "161.45360" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "159.88087" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Zn++].[O-]S([O-])(=O)=O" xsd:string [Term] id: CHEBI:35186 name: terpene namespace: chebi_ontology def: "A hydrocarbon of biological origin having carbon skeleton formally derived from isoprene [CH2=C(CH3)CH=CH2]." [] subset: 3_STAR synonym: "Terpen" RELATED [ChEBI] synonym: "terpene" EXACT [IUPAC] synonym: "terpenes" EXACT IUPAC_NAME [IUPAC] synonym: "terpenes" RELATED [IUPAC] synonym: "terpeno" RELATED [IUPAC] synonym: "terpenos" RELATED [IUPAC] is_a: CHEBI:24913 ! isoprenoid [Term] id: CHEBI:35190 name: diterpene namespace: chebi_ontology def: "A C20 terpene." [] subset: 3_STAR synonym: "Diterpen" RELATED [ChEBI] synonym: "diterpenes" EXACT IUPAC_NAME [IUPAC] synonym: "diterpenes" RELATED [IUPAC] synonym: "diterpeno" RELATED [IUPAC] synonym: "diterpenos" RELATED [IUPAC] is_a: CHEBI:35186 ! terpene [Term] id: CHEBI:35195 name: surfactant namespace: chebi_ontology def: "A substance which lowers the surface tension of the medium in which it is dissolved, and/or the interfacial tension with other phases, and, accordingly, is positively adsorbed at the liquid/vapour and/or at other interfaces." [] subset: 3_STAR synonym: "surface active agent" RELATED [IUPAC] synonym: "surfactant" EXACT IUPAC_NAME [IUPAC] synonym: "surfactants" RELATED [ChEBI] is_a: CHEBI:51086 ! chemical role relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:35212 name: apratoxin A namespace: chebi_ontology def: "An aprotoxin having the common aprotoxin cyclodepsipeptide skeleton where the isoleucyl residue carries an N-methyl substituent and the side-chain adjacent to the lactone is tert-butyl." [] subset: 3_STAR synonym: "(2S,3S,5S,7S,10S,16S,19S,22S,25E,27S)-16-[(2S)-butan-2-yl]-7-tert-butyl-3-hydroxy-22-(4-methoxybenzyl)-2,5,17,19,20,25-hexamethyl-8-oxa-29-thia-14,17,20,23,30-pentaazatricyclo[25.2.1.0(10,14)]triaconta-1(30),25-diene-9,15,18,21,24-pentone" RELATED [IUPAC] synonym: "7'''.1,4-anhydro(N-{3-[2-(3,7-dihydroxy-5,8,8-trimethylnonan-2-yl)-4,5-dihydro-1,3-thiazol-4-yl]-2-methylpropenoyl}-O-methyl-L-tyrosyl-N-methyl-L-alanyl-N-methyl-L-isoleucyl-L-proline)" EXACT IUPAC_NAME [IUPAC] synonym: "apratoxin A" EXACT [ChemIDplus] synonym: "N-((2E)-3-((4S)-4,5-dihydro-2-((1S,2S,4S,6S)-2,6-dihydroxy-1,4,7,7-tetramethyloctyl)-4-thiazolyl)-2-methyl-1-oxo-2-propenyl)-O-methyl-L-tyrosyl-N-methyl-L-alanyl-N-methyl-L-isoleucyl-L-proline-(4-1(6))-lactone" RELATED [ChemIDplus] xref: Beilstein:9181215 {source="Beilstein"} xref: CAS:350791-64-9 {source="ChemIDplus"} xref: MeSH:C442201 xref: Patent:US2011294720 xref: PMID:11389621 {source="Europe PMC"} xref: PMID:18461997 {source="Europe PMC"} xref: Reaxys:9181215 {source="Reaxys"} xref: Wikipedia:Apratoxin_A is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:27026 ! toxin property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C45H69N5O8S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C45H69N5O8S/c1-13-27(3)38-43(55)50-20-14-15-35(50)44(56)58-37(45(7,8)9)22-26(2)21-36(51)29(5)40-46-32(25-59-40)23-28(4)39(52)47-34(24-31-16-18-33(57-12)19-17-31)42(54)48(10)30(6)41(53)49(38)11/h16-19,23,26-27,29-30,32,34-38,51H,13-15,20-22,24-25H2,1-12H3,(H,47,52)/b28-23+/t26-,27-,29-,30-,32-,34-,35-,36-,37-,38-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KXUJXPZXILTXDA-CKIYSKEDSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "840.12426" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "839.48669" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H]N1[C@@H](Cc2ccc(OC)cc2)C(=O)N(C)[C@@H](C)C(=O)N(C)[C@@H]([C@@H](C)CC)C(=O)N2CCC[C@H]2C(=O)O[C@@H](C[C@@H](C)C[C@H](O)[C@H](C)C2=N[C@H](CS2)\\C=C(C)\\C1=O)C(C)(C)C" xsd:string [Term] id: CHEBI:35219 name: plant growth retardant namespace: chebi_ontology alt_id: CHEBI:26154 alt_id: CHEBI:26156 subset: 3_STAR synonym: "plant growth inhibitor" RELATED [ChEBI] synonym: "plant growth inhibitors" RELATED [ChEBI] synonym: "plant growth retardants" RELATED [ChEBI] is_a: CHEBI:26155 ! plant growth regulator [Term] id: CHEBI:35221 name: antimetabolite namespace: chebi_ontology def: "A substance which is structurally similar to a metabolite but which competes with it or replaces it, and so prevents or reduces its normal utilization." [] subset: 3_STAR synonym: "antimetabolite" EXACT IUPAC_NAME [IUPAC] synonym: "antimetabolites" RELATED [ChEBI] xref: MeSH:D000963 xref: Wikipedia:Antimetabolite is_a: CHEBI:24432 ! biological role is_a: CHEBI:51086 ! chemical role relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:35222 name: inhibitor namespace: chebi_ontology def: "A substance that diminishes the rate of a chemical reaction." [] subset: 3_STAR synonym: "inhibidor" RELATED [ChEBI] synonym: "inhibiteur" RELATED [ChEBI] synonym: "inhibitor" EXACT IUPAC_NAME [IUPAC] synonym: "inhibitors" RELATED [ChEBI] is_a: CHEBI:24432 ! biological role is_a: CHEBI:51086 ! chemical role relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:35227 name: 4-nitrotoluene namespace: chebi_ontology alt_id: CHEBI:20461 alt_id: CHEBI:33097 alt_id: CHEBI:34431 def: "A mononitrotoluene that consists of toluene bearing a nitro substituent at the 4-position." [] subset: 3_STAR synonym: "1-Methyl-4-nitrobenzene" RELATED [KEGG_COMPOUND] synonym: "1-methyl-4-nitrobenzene" EXACT IUPAC_NAME [IUPAC] synonym: "4-methylnitrobenzene" RELATED [ChemIDplus] synonym: "4-Nitrotoluene" EXACT [KEGG_COMPOUND] synonym: "4-nitrotoluene" EXACT [UniProt] synonym: "4-Nitrotoluol" RELATED [ChemIDplus] synonym: "p-methylnitrobenzene" RELATED [ChemIDplus] synonym: "p-nitrotoluene" RELATED [ChemIDplus] synonym: "para-Nitrotoluol" RELATED [ChemIDplus] synonym: "PNT" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:1906911 {source="Beilstein"} xref: CAS:99-99-0 {source="KEGG COMPOUND"} xref: CAS:99-99-0 {source="NIST Chemistry WebBook"} xref: CAS:99-99-0 {source="ChemIDplus"} xref: Gmelin:26926 {source="Gmelin"} xref: KEGG:C14394 xref: PMID:21895789 {source="Europe PMC"} xref: PMID:23389716 {source="Europe PMC"} xref: PMID:9139924 {source="Europe PMC"} xref: Reaxys:1906911 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H7NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H7NO2/c1-6-2-4-7(5-3-6)8(9)10/h2-5H,1H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ZPTVNYMJQHSSEA-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "137.13600" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "137.04768" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cc1ccc(cc1)[N+]([O-])=O" xsd:string [Term] id: CHEBI:35260 name: 1-benzofuran namespace: chebi_ontology alt_id: CHEBI:33075 alt_id: CHEBI:34570 alt_id: CHEBI:41220 def: "A benzofuran consisting of fused benzene and furan rings. It is the parent compound of the class of 1-benzofurans." [] subset: 3_STAR synonym: "1-benzofuran" EXACT IUPAC_NAME [IUPAC] synonym: "benzo[b]furan" RELATED [NIST_Chemistry_WebBook] synonym: "BENZOFURAN" RELATED [PDBeChem] synonym: "Benzofuran" RELATED [KEGG_COMPOUND] synonym: "coumaron" RELATED [ChemIDplus] synonym: "coumarone" RELATED [NIST_Chemistry_WebBook] synonym: "cumarone" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:107704 {source="Beilstein"} xref: CAS:271-89-6 {source="ChemIDplus"} xref: CAS:271-89-6 {source="NIST Chemistry WebBook"} xref: CAS:271-89-6 {source="KEGG COMPOUND"} xref: DrugBank:DB04179 xref: Gmelin:260881 {source="Gmelin"} xref: HMDB:HMDB0032929 xref: KEGG:C14512 xref: LINCS:LSM-36964 xref: PDBeChem:BZF xref: Reaxys:107704 {source="Reaxys"} xref: Wikipedia:1-benzofuran is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H6O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H6O/c1-2-4-8-7(3-1)5-6-9-8/h1-6H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IANQTJSKSUMEQM-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "118.13260" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "118.04186" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "c1cc2ccccc2o1" xsd:string [Term] id: CHEBI:35280 name: L-proline betaine namespace: chebi_ontology alt_id: CHEBI:26272 alt_id: CHEBI:26748 alt_id: CHEBI:9247 def: "An amino acid betaine that is L-proline zwitterion in which both of the hydrogens attached to the nitrogen are replaced by methyl groups." [] subset: 3_STAR synonym: "(2S)-1,1-dimethylpyrrolidinium-2-carboxylate" EXACT IUPAC_NAME [IUPAC] synonym: "(S)-2-carboxylato-1,1-dimethylpyrrolidinium" RELATED [ChemIDplus] synonym: "L-proline betaine" EXACT [UniProt] synonym: "N,N-dimethyl-L-proline" RELATED [ChEBI] synonym: "proline betaine" RELATED [ChEBI] synonym: "Stachydrine" RELATED [KEGG_COMPOUND] xref: Beilstein:3542403 {source="Beilstein"} xref: CAS:471-87-4 {source="KEGG COMPOUND"} xref: CAS:471-87-4 {source="ChemIDplus"} xref: DrugBank:DB04284 xref: HMDB:HMDB0004827 xref: KEGG:C10172 xref: KNApSAcK:C00002074 xref: PDBeChem:PBE xref: PMID:22770225 {source="Europe PMC"} xref: PMID:24704554 {source="Europe PMC"} xref: PMID:25012968 {source="Europe PMC"} xref: Reaxys:3542403 {source="Reaxys"} is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H13NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H13NO2/c1-8(2)5-3-4-6(8)7(9)10/h6H,3-5H2,1-2H3/t6-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CMUNUTVVOOHQPW-LURJTMIESA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "143.18360" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "143.09463" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[N+]1(C)CCC[C@H]1C([O-])=O" xsd:string [Term] id: CHEBI:35341 name: steroid namespace: chebi_ontology alt_id: CHEBI:13687 alt_id: CHEBI:26768 alt_id: CHEBI:9263 def: "Any of naturally occurring compounds and synthetic analogues, based on the cyclopenta[a]phenanthrene carbon skeleton, partially or completely hydrogenated; there are usually methyl groups at C-10 and C-13, and often an alkyl group at C-17. By extension, one or more bond scissions, ring expansions and/or ring contractions of the skeleton may have occurred. Natural steroids are derived biogenetically from squalene which is a triterpene." [] subset: 3_STAR synonym: "a steroid" RELATED [UniProt] synonym: "Steroid" EXACT [KEGG_COMPOUND] synonym: "steroids" EXACT IUPAC_NAME [IUPAC] xref: KEGG:C00377 xref: MetaCyc:Steroids xref: SNOMEDCT:116566001 is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H31R" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "259.450" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "259.24258" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C12C(C3C(C(CC3)*)(C)CC1)CCC4C2(CCCC4)C" xsd:string [Term] id: CHEBI:35366 name: fatty acid namespace: chebi_ontology alt_id: CHEBI:13633 alt_id: CHEBI:24024 alt_id: CHEBI:4984 def: "Any aliphatic monocarboxylic acid derived from or contained in esterified form in an animal or vegetable fat, oil or wax. Natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may be saturated or unsaturated. By extension, the term is sometimes used to embrace all acyclic aliphatic carboxylic acids." [] subset: 3_STAR synonym: "acide gras" RELATED [ChEBI] synonym: "acides gras" RELATED [ChemIDplus] synonym: "acido graso" RELATED [ChEBI] synonym: "acidos grasos" RELATED [ChEBI] synonym: "Fatty acid" EXACT [KEGG_COMPOUND] synonym: "fatty acids" EXACT IUPAC_NAME [IUPAC] synonym: "fatty acids" RELATED [ChEBI] synonym: "Fettsaeure" RELATED [ChEBI] synonym: "Fettsaeuren" RELATED [ChEBI] xref: CiteXplore:14287444 xref: CiteXplore:14300208 xref: CiteXplore:14328676 xref: KEGG COMPOUND:C00162 xref: KEGG:C00162 xref: PMID:14287444 {source="Europe PMC"} xref: PMID:14300208 {source="Europe PMC"} xref: PMID:14328676 {source="Europe PMC"} xref: Wikipedia:Fatty_acid is_a: CHEBI:18059 ! lipid is_a: EFO:0004416 ! acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "CHO2R" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "45.01740" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "44.99765" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC([*])=O" xsd:string [Term] id: CHEBI:35391 name: aspartate(1-) namespace: chebi_ontology alt_id: CHEBI:22659 alt_id: CHEBI:29992 def: "An alpha-amino-acid anion that is the conjugate base of aspartic acid." [] subset: 3_STAR synonym: "2-ammoniobutanedioate" RELATED [IUPAC] synonym: "2-ammoniosuccinate" RELATED [ChEBI] synonym: "aspartate(1-)" EXACT [JCBN] synonym: "aspartic acid monoanion" RELATED [JCBN] synonym: "hydrogen aspartate" EXACT IUPAC_NAME [IUPAC] is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H6NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H7NO4/c5-2(4(8)9)1-3(6)7/h2H,1,5H2,(H,6,7)(H,8,9)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CKLJMWTZIZZHCS-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "132.09478" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "132.03023" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[NH3+]C(CC([O-])=O)C([O-])=O" xsd:string [Term] id: CHEBI:35397 name: tartrate(1-) namespace: chebi_ontology def: "A 3-carboxy-2,3-dihydroxypropanoate that is the conjugate base of tartaric acid." [] subset: 3_STAR synonym: "rel-(2R,3R)-3-carboxy-2,3-dihydroxypropanoate" EXACT IUPAC_NAME [IUPAC] is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H5O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "149.07890" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "149.00861" xsd:string [Term] id: CHEBI:35418 name: N-acetylneuraminate namespace: chebi_ontology alt_id: CHEBI:12471 alt_id: CHEBI:12579 alt_id: CHEBI:21617 alt_id: CHEBI:33987 def: "A ketoaldonate that is the conjugate base of N-acetylneuraminic acid, obtained by deprotonation of the carboxy group." [] subset: 3_STAR synonym: "5-acetamido-3,5-dideoxy-D-galacto-non-2-ulopyranosonate" EXACT IUPAC_NAME [IUPAC] synonym: "N-acetylneuraminate" EXACT [UniProt] synonym: "sialate" RELATED [MetaCyc] xref: MetaCyc:N-ACETYLNEURAMINATE xref: Reaxys:9227329 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C11H18NO9" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C11H19NO9/c1-4(14)12-7-5(15)2-11(20,10(18)19)21-9(7)8(17)6(16)3-13/h5-9,13,15-17,20H,2-3H2,1H3,(H,12,14)(H,18,19)/p-1/t5-,6+,7+,8+,9+,11?/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SQVRNKJHWKZAKO-LUWBGTNYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "308.26196" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "308.09870" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]1(OC(O)(C[C@H](O)[C@H]1NC(C)=O)C([O-])=O)[C@H](O)[C@H](O)CO" xsd:string [Term] id: CHEBI:35420 name: pregnenolone sulfate namespace: chebi_ontology subset: 3_STAR synonym: "(3beta)-3-(sulfooxy)pregn-5-en-20-one" RELATED [ChemIDplus] synonym: "20-oxopregn-5-en-3beta-yl hydrogen sulfate" EXACT IUPAC_NAME [IUPAC] synonym: "5-pregnen-3beta-ol-20-one sulfate" RELATED [ChemIDplus] synonym: "Pregnenolone sulfate" EXACT [KEGG_COMPOUND] synonym: "pregnenolone sulfate" EXACT [ChemIDplus] xref: Beilstein:2632294 {source="Beilstein"} xref: CAS:1247-64-9 {source="KEGG COMPOUND"} xref: CAS:1247-64-9 {source="ChemIDplus"} xref: KEGG:C18044 xref: PMID:20797618 {source="Europe PMC"} is_a: CHEBI:35341 ! steroid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C21H32O5S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C21H32O5S/c1-13(22)17-6-7-18-16-5-4-14-12-15(26-27(23,24)25)8-10-20(14,2)19(16)9-11-21(17,18)3/h4,15-19H,5-12H2,1-3H3,(H,23,24,25)/t15-,16-,17+,18-,19-,20-,21+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DIJBBUIOWGGQOP-QGVNFLHTSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "396.543" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "396.19705" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C1[C@@]2([C@]3(CC[C@]4(C)[C@@H](C(C)=O)CC[C@]4([C@@]3(CC=C2C[C@H](C1)OS(O)(=O)=O)[H])[H])[H])C" xsd:string [Term] id: CHEBI:35444 name: antinematodal drug namespace: chebi_ontology def: "A substance used in the treatment or control of nematode infestations." [] subset: 3_STAR synonym: "antinematodal agent" RELATED [ChEBI] synonym: "antinematodal drugs" RELATED [ChEBI] synonym: "antinematodals" RELATED [ChEBI] is_a: CHEBI:23888 ! drug is_a: EFO:0001899 ! drug role [Term] id: CHEBI:35446 name: chlorobiphenyl namespace: chebi_ontology def: "A chloroarene that consists of a biphenyl skeleton substituted by one or more chloro groups." [] subset: 3_STAR synonym: "chlorobiphenyls" RELATED [ChEBI] xref: MeSH:D011078 is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:27026 ! toxin [Term] id: CHEBI:35455 name: 1-naphthyl isothiocyanate namespace: chebi_ontology subset: 3_STAR synonym: "1-isothiocyanatonaphthalene" EXACT IUPAC_NAME [IUPAC] synonym: "1-Naphthylisothiocyanate" RELATED [ChemIDplus] synonym: "alpha-Naphthyl isothiocyanate" RELATED [ChemIDplus] synonym: "ANIT" RELATED [ChemIDplus] xref: Beilstein:637868 {source="Beilstein"} xref: CAS:551-06-4 {source="ChemIDplus"} xref: MeSH:D015058 is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:24852 ! insecticide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C11H7NS" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C11H7NS/c13-8-12-11-7-3-5-9-4-1-2-6-10(9)11/h1-7H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JBDOSUUXMYMWQH-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "185.24602" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "185.02992" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "S=C=Nc1cccc2ccccc12" xsd:string [Term] id: CHEBI:35456 name: cadmium dichloride namespace: chebi_ontology def: "A cadmium coordination entity in which cadmium(2+) and Cl(-) ions are present in the ratio 2:1. Although considered to be ionic, it has considerable covalent character to its bonding." [] subset: 3_STAR synonym: "[CdCl2]" RELATED [MolBase] synonym: "Caddy" RELATED [ChemIDplus] synonym: "cadmium chloride" RELATED [ChemIDplus] synonym: "cadmium dichloride" EXACT IUPAC_NAME [IUPAC] synonym: "cadmium(2+) chloride" EXACT IUPAC_NAME [IUPAC] synonym: "cadmium(II) chloride" EXACT IUPAC_NAME [IUPAC] synonym: "CdCl2" RELATED [IUPAC] synonym: "Dichlorocadmium" RELATED [ChemIDplus] synonym: "Kadmiumchlorid" RELATED [NIST_Chemistry_WebBook] xref: CAS:10108-64-2 {source="KEGG COMPOUND"} xref: CAS:10108-64-2 {source="ChemIDplus"} xref: CAS:10108-64-2 {source="NIST Chemistry WebBook"} xref: Gmelin:912918 {source="Gmelin"} xref: KEGG:C15233 xref: LINCS:LSM-37028 xref: MeSH:D019256 xref: MolBase:1667 xref: NCIt:C45894 xref: PMID:23804459 {source="Europe PMC"} xref: PMID:25042713 {source="Europe PMC"} xref: PMID:25509961 {source="Europe PMC"} xref: PMID:25717432 {source="Europe PMC"} xref: SNOMEDCT:290010009 xref: Wikipedia:Cadmium_chloride is_a: CHEBI:22978 ! cadmium molecular entity is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "CdCl2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/Cd.2ClH/h;2*1H/q+2;;/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YKYOUMDCQGMQQO-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "183.31640" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "183.84107" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cl[Cd]Cl" xsd:string [Term] id: CHEBI:35457 name: EC 3.4.15.1 (peptidyl-dipeptidase A) inhibitor namespace: chebi_ontology def: "An EC 3.4.15.* (peptidyl-dipeptidase) inhibitor that interferes with the action of peptidyl-dipeptidase A (EC 3.4.15.1)." [] subset: 3_STAR synonym: "ACE inhibitor" RELATED [ChEBI] synonym: "ACE inhibitors" RELATED [ChEBI] synonym: "angiotensin I-converting enzyme inhibitor" RELATED [ChEBI] synonym: "angiotensin I-converting enzyme inhibitors" RELATED [ChEBI] synonym: "angiotensin-converting enzyme inhibitor" RELATED [ChEBI] synonym: "angiotensin-converting enzyme inhibitors" RELATED [ChEBI] synonym: "carboxycathepsin inhibitor" RELATED [ChEBI] synonym: "carboxycathepsin inhibitors" RELATED [ChEBI] synonym: "DCP inhibitor" RELATED [ChEBI] synonym: "DCP inhibitors" RELATED [ChEBI] synonym: "dipeptidase inhibitor" RELATED [ChEBI] synonym: "dipeptidase inhibitors" RELATED [ChEBI] synonym: "dipeptide hydrolase inhibitor" RELATED [ChEBI] synonym: "dipeptide hydrolase inhibitors" RELATED [ChEBI] synonym: "dipeptidyl carboxypeptidase I inhibitor" RELATED [ChEBI] synonym: "dipeptidyl carboxypeptidase I inhibitors" RELATED [ChEBI] synonym: "dipeptidyl carboxypeptidase inhibitor" RELATED [ChEBI] synonym: "dipeptidyl carboxypeptidase inhibitors" RELATED [ChEBI] synonym: "EC 3.4.15.1 (peptidyl-dipeptidase A) inhibitors" RELATED [ChEBI] synonym: "EC 3.4.15.1 inhibitor" RELATED [ChEBI] synonym: "EC 3.4.15.1 inhibitors" RELATED [ChEBI] synonym: "endothelial cell peptidyl dipeptidase inhibitor" RELATED [ChEBI] synonym: "endothelial cell peptidyl dipeptidase inhibitors" RELATED [ChEBI] synonym: "kininase II inhibitor" RELATED [ChEBI] synonym: "kininase II inhibitors" RELATED [ChEBI] synonym: "PDH inhibitor" RELATED [ChEBI] synonym: "PDH inhibitors" RELATED [ChEBI] synonym: "peptidase P inhibitor" RELATED [ChEBI] synonym: "peptidase P inhibitors" RELATED [ChEBI] synonym: "peptidyl dipeptidase A inhibitor" RELATED [ChEBI] synonym: "peptidyl dipeptidase A inhibitors" RELATED [ChEBI] synonym: "peptidyl dipeptidase I inhibitor" RELATED [ChEBI] synonym: "peptidyl dipeptidase I inhibitors" RELATED [ChEBI] synonym: "peptidyl dipeptidase-4 inhibitor" RELATED [ChEBI] synonym: "peptidyl dipeptidase-4 inhibitors" RELATED [ChEBI] synonym: "peptidyl dipeptide hydrolase inhibitor" RELATED [ChEBI] synonym: "peptidyl dipeptide hydrolase inhibitors" RELATED [ChEBI] synonym: "peptidyl-dipeptidase A (EC 3.4.15.1) inhibitor" RELATED [ChEBI] synonym: "peptidyl-dipeptidase A (EC 3.4.15.1) inhibitors" RELATED [ChEBI] synonym: "peptidyl-dipeptidase A inhibitor" RELATED [ChEBI] synonym: "peptidyl-dipeptidase A inhibitors" RELATED [ChEBI] synonym: "peptidyl-dipeptide hydrolase inhibitor" RELATED [ChEBI] synonym: "peptidyl-dipeptide hydrolase inhibitors" RELATED [ChEBI] synonym: "peptidyldipeptide hydrolase inhibitor" RELATED [ChEBI] synonym: "peptidyldipeptide hydrolase inhibitors" RELATED [ChEBI] xref: NCIt:C247 xref: Wikipedia:ACE_inhibitor is_a: CHEBI:23924 ! enzyme inhibitor is_a: CHEBI:35554 ! cardiovascular drug [Term] id: CHEBI:35469 name: antidepressant namespace: chebi_ontology def: "Antidepressants are mood-stimulating drugs used primarily in the treatment of affective disorders and related conditions." [] subset: 3_STAR synonym: "antidepressant drugs" RELATED [ChEBI] synonym: "antidepressants" RELATED [ChEBI] synonym: "thymoanaleptics" RELATED [ChEBI] synonym: "thymoleptic drugs" RELATED [ChEBI] synonym: "thymoleptics" RELATED [ChEBI] xref: SNOMEDCT:36236003 xref: SNOMEDCT:372720008 is_a: CHEBI:23888 ! drug is_a: EFO:0001899 ! drug role [Term] id: CHEBI:35472 name: anti-inflammatory drug namespace: chebi_ontology def: "A substance that reduces or suppresses inflammation." [] subset: 3_STAR synonym: "anti-inflammatory drugs" RELATED [ChEBI] synonym: "antiinflammatory agent" RELATED [ChEBI] synonym: "antiinflammatory drug" RELATED [ChEBI] synonym: "antiinflammatory drugs" RELATED [ChEBI] xref: SNOMEDCT:373283003 is_a: CHEBI:23888 ! drug is_a: EFO:0001899 ! drug role [Term] id: CHEBI:35475 name: non-steroidal anti-inflammatory drug namespace: chebi_ontology def: "An anti-inflammatory drug that is not a steroid. In addition to anti-inflammatory actions, non-steroidal anti-inflammatory drugs have analgesic, antipyretic, and platelet-inhibitory actions. They act by blocking the synthesis of prostaglandins by inhibiting cyclooxygenase, which converts arachidonic acid to cyclic endoperoxides, precursors of prostaglandins." [] subset: 3_STAR synonym: "non-steroidal anti-inflammatory agent" RELATED [ChEBI] synonym: "non-steroidal anti-inflammatory drugs" RELATED [ChEBI] synonym: "NSAID" RELATED [ChEBI] synonym: "NSAIDs" RELATED [ChEBI] xref: SNOMEDCT:16403005 xref: SNOMEDCT:372665008 xref: Wikipedia:Non-steroidal_anti-inflammatory_drug is_a: CHEBI:35472 ! anti-inflammatory drug is_a: CHEBI:35842 ! antirheumatic drug [Term] id: CHEBI:35476 name: antipsychotic agent namespace: chebi_ontology def: "Antipsychotic drugs are agents that control agitated psychotic behaviour, alleviate acute psychotic states, reduce psychotic symptoms, and exert a quieting effect." [] subset: 3_STAR synonym: "antipsychotic agents" RELATED [ChEBI] synonym: "antipsychotic drug" RELATED [ChEBI] synonym: "antipsychotic drugs" RELATED [ChEBI] synonym: "antipsychotics" RELATED [ChEBI] synonym: "antipsychotiques" RELATED [ChEBI] synonym: "grosser Tranquilizer" RELATED [ChEBI] synonym: "major tranquilizers" RELATED [ChEBI] synonym: "major tranquilizing agents" RELATED [ChEBI] synonym: "neuroleptic" RELATED [ChEBI] synonym: "neuroleptic agents" RELATED [ChEBI] synonym: "neuroleptics" RELATED [ChEBI] synonym: "Neuroleptikum" RELATED [ChEBI] synonym: "neuroleptique" RELATED [ChEBI] synonym: "neuroleptiques" RELATED [ChEBI] xref: MeSH:D014150 xref: NIFSTD:nlx_chem_20090603 is_a: CHEBI:23888 ! drug is_a: EFO:0001899 ! drug role [Term] id: CHEBI:35477 name: antimanic drug namespace: chebi_ontology def: "Antimanic drugs are agents used to treat bipolar disorders or mania associated with other affective disorders." [] subset: 3_STAR synonym: "antimanic agent" RELATED [ChEBI] synonym: "antimanic drugs" RELATED [ChEBI] synonym: "antimanics" RELATED [ChEBI] is_a: CHEBI:23888 ! drug is_a: EFO:0001899 ! drug role [Term] id: CHEBI:35481 name: non-narcotic analgesic namespace: chebi_ontology def: "A drug that has principally analgesic, antipyretic and anti-inflammatory actions. Non-narcotic analgesics do not bind to opioid receptors." [] subset: 3_STAR is_a: CHEBI:23888 ! drug is_a: CHEBI:24432 ! biological role is_a: EFO:0001899 ! drug role relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:35482 name: opioid analgesic namespace: chebi_ontology def: "A narcotic or opioid substance, synthetic or semisynthetic agent producing profound analgesia, drowsiness, and changes in mood." [] subset: 3_STAR synonym: "narcotic" RELATED [ChEBI] synonym: "narcotic analgesic" RELATED [ChEBI] synonym: "narcotic analgesics" RELATED [ChEBI] synonym: "narcotics" RELATED [ChEBI] synonym: "opioid analgesics" RELATED [ChEBI] is_a: CHEBI:23888 ! drug is_a: CHEBI:24432 ! biological role is_a: EFO:0001899 ! drug role [Term] id: CHEBI:35493 name: antipyretic namespace: chebi_ontology def: "A drug that prevents or reduces fever by lowering the body temperature from a raised state. An antipyretic will not affect the normal body temperature if one does not have fever. Antipyretics cause the hypothalamus to override an interleukin-induced increase in temperature. The body will then work to lower the temperature and the result is a reduction in fever." [] subset: 3_STAR synonym: "anti-pyretic" RELATED [ChEBI] xref: SNOMEDCT:76644002 xref: Wikipedia:Antipyretic is_a: CHEBI:23888 ! drug is_a: EFO:0001899 ! drug role [Term] id: CHEBI:35522 name: beta-adrenergic agonist namespace: chebi_ontology def: "An agent that selectively binds to and activates beta-adrenergic receptors." [] subset: 3_STAR synonym: "beta-adrenergic agonists" RELATED [ChEBI] synonym: "beta-adrenergic receptor agonist" RELATED [ChEBI] synonym: "beta-adrenoceptor agonists" RELATED [IUPHAR] xref: NCIt:C48149 is_a: CHEBI:23888 ! drug is_a: CHEBI:24432 ! biological role is_a: EFO:0001899 ! drug role [Term] id: CHEBI:35526 name: hypoglycemic agent namespace: chebi_ontology def: "A drug which lowers the blood glucose level." [] subset: 3_STAR synonym: "antidiabetic" RELATED [ChEBI] synonym: "antihyperglycemic" RELATED [ChEBI] synonym: "antihyperglycemic agent" RELATED [ChEBI] synonym: "antihyperglycemic agents" RELATED [ChEBI] synonym: "antihyperglycemic drug" RELATED [ChEBI] synonym: "antihyperglycemic drugs" RELATED [ChEBI] synonym: "antihyperglycemics" RELATED [ChEBI] synonym: "hypoglycemic agents" RELATED [ChEBI] synonym: "hypoglycemic drug" RELATED [ChEBI] synonym: "hypoglycemic drugs" RELATED [ChEBI] xref: SNOMEDCT:312064005 is_a: CHEBI:23888 ! drug is_a: EFO:0001899 ! drug role [Term] id: CHEBI:35544 name: EC 1.14.99.1 (prostaglandin-endoperoxide synthase) inhibitor namespace: chebi_ontology def: "A compound or agent that combines with cyclooxygenases (EC 1.14.99.1) and thereby prevents its substrate-enzyme combination with arachidonic acid and the formation of icosanoids, prostaglandins, and thromboxanes." [] subset: 3_STAR synonym: "(5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoate,hydrogen-donor:oxygen oxidoreductase inhibitor" RELATED [ChEBI] synonym: "(5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoate,hydrogen-donor:oxygen oxidoreductase inhibitors" RELATED [ChEBI] synonym: "(PG)H synthase inhibitor" RELATED [ChEBI] synonym: "(PG)H synthase inhibitors" RELATED [ChEBI] synonym: "COX inhibitor" RELATED [ChEBI] synonym: "cyclooxygenase (EC 1.14.99.1) inhibitor" RELATED [ChEBI] synonym: "cyclooxygenase (EC 1.14.99.1) inhibitors" RELATED [ChEBI] synonym: "cyclooxygenase inhibitor" RELATED [ChEBI] synonym: "cyclooxygenase inhibitors" RELATED [ChEBI] synonym: "EC 1.14.99.1 (cyclooxygenase) inhibitor" RELATED [ChEBI] synonym: "EC 1.14.99.1 (cyclooxygenase) inhibitors" RELATED [ChEBI] synonym: "EC 1.14.99.1 (prostaglandin-endoperoxide synthase) inhibitors" RELATED [ChEBI] synonym: "EC 1.14.99.1 inhibitor" RELATED [ChEBI] synonym: "EC 1.14.99.1 inhibitors" RELATED [ChEBI] synonym: "fatty acid cyclooxygenase inhibitor" RELATED [ChEBI] synonym: "fatty acid cyclooxygenase inhibitors" RELATED [ChEBI] synonym: "PG synthetase inhibitor" RELATED [ChEBI] synonym: "PG synthetase inhibitors" RELATED [ChEBI] synonym: "prostaglandin endoperoxide synthetase inhibitor" RELATED [ChEBI] synonym: "prostaglandin endoperoxide synthetase inhibitors" RELATED [ChEBI] synonym: "prostaglandin G/H synthase inhibitor" RELATED [ChEBI] synonym: "prostaglandin G/H synthase inhibitors" RELATED [ChEBI] synonym: "prostaglandin synthase inhibitor" RELATED [ChEBI] synonym: "prostaglandin synthase inhibitors" RELATED [ChEBI] synonym: "prostaglandin synthetase inhibitor" RELATED [ChEBI] synonym: "prostaglandin synthetase inhibitors" RELATED [ChEBI] xref: MeSH:D016861 xref: NCIt:C1323 is_a: CHEBI:23924 ! enzyme inhibitor [Term] id: CHEBI:35546 name: perfluorodecanoic acid namespace: chebi_ontology def: "A fluoroalkanoic acid that is perfluorinated decanoic acid." [] subset: 3_STAR synonym: "2,2,3,3,4,4,5,5,6,6,7,7,8,8,9,9,10,10,10-nonadecafluorodecanoic acid" RELATED [NIST_Chemistry_WebBook] synonym: "Ndfda" RELATED [ChemIDplus] synonym: "nonadecafluoro-n-decanoic acid" RELATED [ChemIDplus] synonym: "nonadecafluorodecanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "perfluoro-n-decanoic acid" RELATED [ChemIDplus] synonym: "perfluorodecanoic acid" EXACT [ChemIDplus] synonym: "PFDA" RELATED [ChemIDplus] xref: Beilstein:1810811 {source="ChemIDplus"} xref: CAS:335-76-2 {source="ChemIDplus"} xref: CAS:335-76-2 {source="NIST Chemistry WebBook"} xref: Gmelin:35659 {source="Gmelin"} xref: PMID:24367824 {source="Europe PMC"} xref: PMID:24582365 {source="Europe PMC"} xref: PMID:24630253 {source="Europe PMC"} xref: Reaxys:1810811 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10HF19O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10HF19O2/c11-2(12,1(30)31)3(13,14)4(15,16)5(17,18)6(19,20)7(21,22)8(23,24)9(25,26)10(27,28)29/h(H,30,31)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PCIUEQPBYFRTEM-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "514.08340" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "513.96731" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)C(F)(F)C(F)(F)C(F)(F)C(F)(F)C(F)(F)C(F)(F)C(F)(F)C(F)(F)C(F)(F)F" xsd:string [Term] id: CHEBI:35553 name: perhexiline namespace: chebi_ontology subset: 3_STAR synonym: "2-(2,2-dicyclohexylethyl)piperidine" EXACT IUPAC_NAME [IUPAC] synonym: "Perhexilene" RELATED [NIST_Chemistry_WebBook] synonym: "Perhexiline" EXACT [ChemIDplus] xref: Beilstein:4979856 {source="Beilstein"} xref: CAS:6621-47-2 {source="ChemIDplus"} xref: CAS:6621-47-2 {source="NIST Chemistry WebBook"} xref: Drug_Central:2106 {source="DrugCentral"} xref: DrugBank:DB01074 xref: LINCS:LSM-4353 xref: Wikipedia:Perhexiline is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H35N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H35N/c1-3-9-16(10-4-1)19(17-11-5-2-6-12-17)15-18-13-7-8-14-20-18/h16-20H,1-15H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CYXKNKQEMFBLER-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "277.48794" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "277.27695" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C1CCC(CC1)C(CC1CCCCN1)C1CCCCC1" xsd:string [Term] id: CHEBI:35554 name: cardiovascular drug namespace: chebi_ontology def: "A drug that affects the rate or intensity of cardiac contraction, blood vessel diameter or blood volume." [] subset: 3_STAR synonym: "cardiovascular agent" RELATED [ChEBI] synonym: "cardiovascular drugs" RELATED [ChEBI] xref: SNOMEDCT:14833006 is_a: CHEBI:23888 ! drug is_a: EFO:0001899 ! drug role [Term] id: CHEBI:35559 name: furan namespace: chebi_ontology alt_id: CHEBI:30855 alt_id: CHEBI:34767 def: "A monocyclic heteroarene with a structure consisting of a 5-membered ring containing four carbons and one oxygen, with formula C4H4O. It is a toxic, flammable, low-boiling (31degreeC) colourless liquid." [] subset: 3_STAR synonym: "1,4-epoxy-1,3-butadiene" RELATED [ChemIDplus] synonym: "divinylene oxide" RELATED [ChemIDplus] synonym: "Furan" EXACT [KEGG_COMPOUND] synonym: "furan" EXACT IUPAC_NAME [IUPAC] synonym: "furane" RELATED [NIST_Chemistry_WebBook] synonym: "oxacyclopentadiene" RELATED [ChemIDplus] synonym: "oxole" RELATED [NIST_Chemistry_WebBook] synonym: "tetrole" RELATED [ChemIDplus] xref: Beilstein:103221 {source="Beilstein"} xref: CAS:110-00-9 {source="ChemIDplus"} xref: CAS:110-00-9 {source="NIST Chemistry WebBook"} xref: CAS:110-00-9 {source="KEGG COMPOUND"} xref: ChEMBL:116512 xref: ChemIDplus:110-00-9 xref: Gmelin:25716 {source="Gmelin"} xref: HMDB:HMDB0013785 xref: KEGG:C14275 xref: LINCS:LSM-37156 xref: MeSH:C039281 xref: NCIt:C44385 xref: NIST Chemistry WebBook:110-00-9 xref: PMID:16006568 {source="Europe PMC"} xref: PMID:17224250 {source="Europe PMC"} xref: PMID:22079235 {source="Europe PMC"} xref: PMID:22542513 {source="Europe PMC"} xref: PMID:22641279 {source="Europe PMC"} xref: PMID:22865590 {source="Europe PMC"} xref: PMID:9169064 {source="Europe PMC"} xref: Reaxys:103221 {source="Reaxys"} xref: Wikipedia:Furan is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H4O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H4O/c1-2-4-5-3-1/h1-4H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YLQBMQCUIZJEEH-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "68.07400" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "68.02621" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "c1ccoc1" xsd:string [Term] id: CHEBI:35569 name: alpha-adrenergic agonist namespace: chebi_ontology def: "An agent that selectively binds to and activates alpha-adrenergic receptors." [] subset: 3_STAR synonym: "alpha-adrenergic agonists" RELATED [ChEBI] synonym: "alpha-adrenergic receptor agonist" RELATED [ChEBI] synonym: "alpha-adrenoceptor agonists" RELATED [IUPHAR] xref: NCIt:C29709 is_a: CHEBI:23888 ! drug is_a: CHEBI:24432 ! biological role [Term] id: CHEBI:35591 name: pregnenolone 16alpha-carbonitrile namespace: chebi_ontology subset: 3_STAR synonym: "3beta-Hydroxy-20-oxo-5-pregnene-16alpha-carbonitrile" RELATED [KEGG_COMPOUND] synonym: "3beta-hydroxy-20-oxo-5-pregnene-16alpha-carbonitrile" RELATED [ChemIDplus] synonym: "3beta-hydroxy-20-oxopregn-5-ene-16alpha-carbonitrile" EXACT IUPAC_NAME [IUPAC] synonym: "PCN" RELATED [KEGG_COMPOUND] synonym: "PCN" RELATED [ChEBI] synonym: "pregnenolone 16alpha-carbonitrile" EXACT [ChemIDplus] synonym: "pregnenolone carbonitrile" RELATED [ChemIDplus] synonym: "Pregnenolone-16alpha-carbonitrile" RELATED [KEGG_COMPOUND] xref: Beilstein:2706221 {source="Beilstein"} xref: CAS:1434-54-4 {source="ChemIDplus"} xref: CAS:1434-54-4 {source="KEGG COMPOUND"} xref: KEGG:C15637 xref: LINCS:LSM-2870 xref: MeSH:D011285 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H31NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C22H31NO2/c1-13(24)20-14(12-23)10-19-17-5-4-15-11-16(25)6-8-21(15,2)18(17)7-9-22(19,20)3/h4,14,16-20,25H,5-11H2,1-3H3/t14-,16-,17+,18-,19-,20-,21-,22-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VSBHRRMYCDQLJF-ZDNYCOCVSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "341.48708" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "341.23548" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12CC=C3C[C@@H](O)CC[C@]3(C)[C@@]1([H])CC[C@]1(C)[C@H]([C@@H](C[C@@]21[H])C#N)C(C)=O" xsd:string [Term] id: CHEBI:35595 name: isoxazole namespace: chebi_ontology def: "A monocyclic heteroarene with a structure consisting of a 5-membered ring containing three carbon atoms and an oxygen and nitrogen atom adjacent to each other. It is the parent of the class of isoxazoles." [] subset: 3_STAR synonym: "1,2-oxazole" EXACT IUPAC_NAME [IUPAC] synonym: "1-oxa-2-azacyclopentadiene" RELATED [NIST_Chemistry_WebBook] synonym: "isooxazole" RELATED [NIST_Chemistry_WebBook] synonym: "isoxazole" EXACT [ChemIDplus] xref: Beilstein:103773 {source="Beilstein"} xref: CAS:288-14-2 {source="ChemIDplus"} xref: CAS:288-14-2 {source="NIST Chemistry WebBook"} xref: Gmelin:1041679 {source="Gmelin"} xref: Reaxys:103773 {source="Reaxys"} xref: Wikipedia:Isoxazole is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H3NO" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H3NO/c1-2-4-5-3-1/h1-3H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CTAPFRYPJLPFDF-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "69.06200" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "69.02146" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "c1cnoc1" xsd:string [Term] id: CHEBI:35610 name: antineoplastic agent namespace: chebi_ontology def: "A substance that inhibits or prevents the proliferation of neoplasms." [] subset: 3_STAR synonym: "anticancer agent" RELATED [ChEBI] synonym: "anticancer agents" RELATED [ChEBI] synonym: "antineoplastic" RELATED [ChEBI] synonym: "antineoplastic agents" RELATED [ChEBI] synonym: "cytostatic" RELATED [ChEBI] xref: MeSH:D000970 xref: NCIt:C274 xref: SNOMEDCT:27867009 xref: SNOMEDCT:372688009 is_a: CHEBI:23888 ! drug is_a: EFO:0001899 ! drug role [Term] id: CHEBI:35620 name: vasodilator agent namespace: chebi_ontology def: "A drug used to cause dilation of the blood vessels." [] subset: 3_STAR synonym: "vasodilator" RELATED [ChEBI] synonym: "vasodilator agents" RELATED [ChEBI] xref: MeSH:D014665 xref: SNOMEDCT:372787008 is_a: CHEBI:35554 ! cardiovascular drug [Term] id: CHEBI:35623 name: anticonvulsant namespace: chebi_ontology def: "A drug used to prevent seizures or reduce their severity." [] subset: 3_STAR synonym: "anti-convulsant" RELATED [ChEBI] synonym: "anti-convulsants" RELATED [ChEBI] synonym: "anti-convulsive agent" RELATED [ChEBI] synonym: "anti-convulsive agents" RELATED [ChEBI] synonym: "anticonvulsants" RELATED [ChEBI] synonym: "anticonvulsive agent" RELATED [ChEBI] synonym: "anticonvulsive agents" RELATED [ChEBI] synonym: "antiepileptic" RELATED [ChEBI] synonym: "antiepileptics" RELATED [ChEBI] synonym: "Antiepileptika" RELATED [ChEBI] synonym: "Antiepileptikum" RELATED [ChEBI] synonym: "antiepileptique" RELATED [ChEBI] synonym: "antiepileptiques" RELATED [ChEBI] synonym: "Antikonvulsiva" RELATED [ChEBI] synonym: "Antikonvulsivum" RELATED [ChEBI] xref: MeSH:D000927 xref: SNOMEDCT:255632006 xref: SNOMEDCT:63094006 is_a: CHEBI:23888 ! drug is_a: CHEBI:51086 ! chemical role relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:35627 name: beta-lactam namespace: chebi_ontology alt_id: CHEBI:10426 alt_id: CHEBI:13203 alt_id: CHEBI:22845 def: "A lactam in which the amide bond is contained within a four-membered ring, which includes the amide nitrogen and the carbonyl carbon." [] subset: 3_STAR synonym: "a beta-lactam" RELATED [UniProt] synonym: "beta-Lactam" EXACT [KEGG_COMPOUND] synonym: "beta-lactams" RELATED [ChEBI] xref: KEGG:C01866 xref: Wikipedia:Beta-lactam is_a: CHEBI:24532 ! organic heterocyclic compound is_a: EFO:0004417 ! amide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H2NOR3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "68.054" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "68.01364" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C1(C(N(*)C1*)=O)*" xsd:string [Term] id: CHEBI:35640 name: adrenergic uptake inhibitor namespace: chebi_ontology def: "Adrenergic uptake inhibitors are drugs that block the transport of adrenergic transmitters into axon terminals or into storage vesicles within terminals. The tricyclic antidepressants and amphetamines are among the therapeutically important drugs that may act via inhibition of adrenergic transport. Many of these drugs also block transport of serotonin." [] subset: 3_STAR synonym: "adrenergic reuptake inhibitor" RELATED [ChEBI] synonym: "adrenergic reuptake inhibitors" RELATED [ChEBI] synonym: "adrenergic uptake inhibitors" RELATED [ChEBI] synonym: "ARI" RELATED [ChEBI] synonym: "NERI" RELATED [ChEBI] synonym: "norepinephrine reuptake inhibitor" RELATED [ChEBI] synonym: "norepinephrine reuptake inhibitors" RELATED [ChEBI] synonym: "NRI" RELATED [ChEBI] xref: MeSH:D018759 is_a: CHEBI:23888 ! drug is_a: CHEBI:24432 ! biological role is_a: EFO:0001899 ! drug role relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:35666 name: thiopurine namespace: chebi_ontology alt_id: CHEBI:26974 alt_id: CHEBI:35665 alt_id: CHEBI:9563 subset: 3_STAR synonym: "mercaptopurines" RELATED [ChEBI] synonym: "sulfanylpurines" RELATED [ChEBI] synonym: "thiopurines" RELATED [ChEBI] is_a: CHEBI:24532 ! organic heterocyclic compound [Term] id: CHEBI:35679 name: antilipemic drug namespace: chebi_ontology def: "A substance used to treat hyperlipidemia (an excess of lipids in the blood)." [] subset: 3_STAR synonym: "antihyperlipemic" RELATED [ChEBI] synonym: "antihyperlipemics" RELATED [ChEBI] synonym: "antihyperlipidaemic agent" RELATED [ChEBI] synonym: "antihyperlipidaemic agents" RELATED [ChEBI] synonym: "antihyperlipidaemic drug" RELATED [ChEBI] synonym: "antihyperlipidaemic drugs" RELATED [ChEBI] synonym: "antihyperlipidemic" RELATED [ChEBI] synonym: "antihyperlipidemic agent" RELATED [ChEBI] synonym: "antihyperlipidemic agents" RELATED [ChEBI] synonym: "antihyperlipidemic drug" RELATED [ChEBI] synonym: "antihyperlipidemic drugs" RELATED [ChEBI] synonym: "antihyperlipidemics" RELATED [ChEBI] synonym: "antilipemic" RELATED [ChEBI] synonym: "antilipemic drugs" RELATED [ChEBI] synonym: "antilipemics" RELATED [ChEBI] synonym: "hypolipidemic agent" RELATED [ChEBI] synonym: "hypolipidemic agents" RELATED [ChEBI] synonym: "lipid-lowering agent" RELATED [ChEBI] synonym: "lipid-lowering agents" RELATED [ChEBI] synonym: "lipid-lowering drug" RELATED [ChEBI] synonym: "lipid-lowering drugs" RELATED [ChEBI] xref: Wikipedia:Hypolipidemic_agent is_a: CHEBI:23888 ! drug is_a: EFO:0001899 ! drug role [Term] id: CHEBI:35696 name: cobalt dichloride namespace: chebi_ontology def: "A cobalt salt in which the cobalt metal is in the +2 oxidation state and the counter-anion is chloride. It is used as an indicator for water in desiccants." [] subset: 3_STAR synonym: "cobalt chloride" RELATED [ChEBI] synonym: "cobalt dichloride" EXACT IUPAC_NAME [IUPAC] synonym: "cobalt muriate" RELATED [ChemIDplus] synonym: "cobalt(2+) chloride" EXACT IUPAC_NAME [IUPAC] synonym: "cobalt(II) chloride" EXACT IUPAC_NAME [IUPAC] synonym: "cobaltous chloride" RELATED [ChemIDplus] synonym: "cobaltous chloride anhydrous" RELATED [NIST_Chemistry_WebBook] synonym: "cobaltous dichloride" RELATED [ChemIDplus] synonym: "CoCl2" RELATED [IUPAC] synonym: "dichlorocobalt" RELATED [ChemIDplus] synonym: "Kobalt chlorid" RELATED [ChemIDplus] synonym: "Kobalt(II)-chlorid" RELATED [ChEBI] synonym: "Kobaltdichlorid" RELATED [ChEBI] xref: Beilstein:3902826 {source="Beilstein"} xref: CAS:7646-79-9 {source="NIST Chemistry WebBook"} xref: CAS:7646-79-9 {source="ChemIDplus"} xref: ChemIDplus:7646-79-9 xref: CiteXplore:1108802 xref: CiteXplore:11207315 xref: CiteXplore:16426290 xref: CiteXplore:18837732 xref: CiteXplore:21616561 xref: CiteXplore:7615984 xref: CiteXplore:8566016 xref: Gmelin:9298 {source="Gmelin"} xref: LINCS:LSM-5958 xref: MeSH:C018021 xref: NCIt:C77458 xref: NIST Chemistry WebBook:7646-79-9 xref: PMID:1108802 {source="Europe PMC"} xref: PMID:11207315 {source="Europe PMC"} xref: PMID:16229947 {source="Europe PMC"} xref: PMID:16426290 {source="Europe PMC"} xref: PMID:16623025 {source="Europe PMC"} xref: PMID:16848139 {source="Europe PMC"} xref: PMID:18837732 {source="Europe PMC"} xref: PMID:21616561 {source="Europe PMC"} xref: PMID:23065176 {source="Europe PMC"} xref: PMID:23420403 {source="Europe PMC"} xref: PMID:23542142 {source="Europe PMC"} xref: PMID:23566873 {source="Europe PMC"} xref: PMID:23568501 {source="Europe PMC"} xref: PMID:23651544 {source="Europe PMC"} xref: PMID:23694759 {source="Europe PMC"} xref: PMID:29079364 {source="Europe PMC"} xref: PMID:7615984 {source="Europe PMC"} xref: PMID:8566016 {source="Europe PMC"} xref: Reaxys:3902826 {source="Reaxys"} xref: SNOMEDCT:255839000 xref: SNOMEDCT:411131005 xref: Wikipedia:Cobalt(II)_chloride is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "Cl2Co" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/2ClH.Co/h2*1H;/q;;+2/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GVPFVAHMJGGAJG-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "129.83860" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "128.87090" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Cl-].[Cl-].[Co++]" xsd:string [Term] id: CHEBI:35703 name: xenobiotic namespace: chebi_ontology alt_id: CHEBI:10074 alt_id: CHEBI:27333 def: "A xenobiotic (Greek, xenos \"foreign\"; bios \"life\") is a compound that is foreign to a living organism. Principal xenobiotics include: drugs, carcinogens and various compounds that have been introduced into the environment by artificial means." [] subset: 3_STAR synonym: "Xenobiotic" EXACT [KEGG_COMPOUND] synonym: "xenobiotic" EXACT IUPAC_NAME [IUPAC] synonym: "xenobiotic compounds" RELATED [ChEBI] synonym: "xenobiotics" EXACT IUPAC_NAME [IUPAC] xref: KEGG:C06708 xref: MeSH:D015262 xref: Wikipedia:Xenobiotic is_a: CHEBI:24432 ! biological role is_a: CHEBI:51086 ! chemical role relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:35705 name: immunosuppressive agent namespace: chebi_ontology def: "An agent that suppresses immune function by one of several mechanisms of action. Classical cytotoxic immunosuppressants act by inhibiting DNA synthesis. Others may act through activation of T-cells or by inhibiting the activation of helper cells. In addition, an immunosuppressive agent is a role played by a compound which is exhibited by a capability to diminish the extent and/or voracity of an immune response." [] subset: 3_STAR synonym: "immunosuppressant" RELATED [ChEBI] synonym: "immunosuppressive agents" RELATED [ChEBI] synonym: "inmunosupresor" RELATED [ChEBI] xref: MeSH:D007166 xref: NCIt:C574 xref: SNOMEDCT:372823004 xref: SNOMEDCT:69431002 is_a: CHEBI:23888 ! drug is_a: CHEBI:24432 ! biological role is_a: CHEBI:51086 ! chemical role relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:35717 name: sedative namespace: chebi_ontology def: "A central nervous system depressant used to induce drowsiness or sleep or to reduce psychological excitement or anxiety." [] subset: 3_STAR synonym: "hypnotics" RELATED [ChEBI] synonym: "hypnotics and sedatives" RELATED [ChEBI] synonym: "sedative drug" RELATED [ChEBI] synonym: "sedatives" RELATED [ChEBI] synonym: "sedatives and hypnotics" RELATED [ChEBI] xref: SNOMEDCT:321088006 is_a: CHEBI:23888 ! drug is_a: EFO:0001899 ! drug role [Term] id: CHEBI:35718 name: antifungal agent namespace: chebi_ontology def: "An antimicrobial agent that destroys fungi by suppressing their ability to grow or reproduce." [] subset: 3_STAR synonym: "antifungal" RELATED [ChEBI] synonym: "antifungal agents" RELATED [ChEBI] synonym: "antifungal drug" RELATED [ChEBI] synonym: "antifungal drugs" RELATED [ChEBI] synonym: "antifungals" RELATED [ChEBI] xref: NCIt:C514 xref: SNOMEDCT:324643005 is_a: CHEBI:33281 ! antimicrobial agent is_a: EFO:0001899 ! drug role [Term] id: CHEBI:35780 name: phosphate ion namespace: chebi_ontology def: "A phosphorus oxoanion that is the conjugate base of phosphoric acid." [] subset: 3_STAR synonym: "phosphate" RELATED [ChEBI] synonym: "phosphate ions" RELATED [ChEBI] synonym: "Pi" RELATED [ChEBI] is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:35804 name: citrate(1-) namespace: chebi_ontology def: "A tricarboxylic acid monoanion that is the conjugate base of citric acid, obtained by deprotonation of one of the three carboxy groups." [] subset: 3_STAR synonym: "dihydrogen citrate" EXACT IUPAC_NAME [IUPAC] synonym: "H2cit" RELATED [IUPAC] synonym: "H2cit(-)" RELATED [ChEBI] is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H7O7" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "191.11558" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "191.01918" xsd:string [Term] id: CHEBI:35807 name: N-nitrosodimethylamine namespace: chebi_ontology alt_id: CHEBI:21778 alt_id: CHEBI:34874 subset: 3_STAR synonym: "1,1-Dimethyl-2-oxohydrazine" RELATED [NIST_Chemistry_WebBook] synonym: "Dimethylnitrosamine" RELATED [KEGG_COMPOUND] synonym: "Dimethylnitrosoamine" RELATED [ChemIDplus] synonym: "DMN" RELATED [ChemIDplus] synonym: "N,N-Dimethylnitrosamine" RELATED [ChemIDplus] synonym: "N-methyl-N-nitrosomethanamine" EXACT IUPAC_NAME [IUPAC] synonym: "N-Nitrosodimethylamine" EXACT [ChemIDplus] synonym: "N-Nitrosodimethylamine" EXACT [KEGG_COMPOUND] xref: CAS:62-75-9 {source="KEGG COMPOUND"} xref: CAS:62-75-9 {source="ChemIDplus"} xref: CAS:62-75-9 {source="NIST Chemistry WebBook"} xref: ChEMBL:290955 xref: ChemIDplus:62-75-9 xref: FooDB:FDB003496 xref: HMDB:HMDB0031419 xref: KEGG COMPOUND:62-75-9 xref: KEGG COMPOUND:C14704 xref: KEGG:C14704 xref: MeSH:D004128 xref: MetaCyc:CPD-18996 xref: NCIt:C44417 xref: NIST Chemistry WebBook:62-75-9 xref: PMID:10688537 {source="Europe PMC"} xref: PMID:15647563 {source="Europe PMC"} xref: PMID:15672376 {source="Europe PMC"} xref: PMID:16640298 {source="Europe PMC"} xref: PMID:25556763 {source="Europe PMC"} xref: PMID:32836149 {source="Europe PMC"} xref: PMID:33849366 {source="Europe PMC"} xref: PMID:34247699 {source="Europe PMC"} xref: PMID:34546846 {source="Europe PMC"} xref: PMID:8318659 {source="Europe PMC"} xref: PMID:8951235 {source="Europe PMC"} xref: PPDB:1645 xref: Wikipedia:N-Nitrosodimethylamine is_a: EFO:0004417 ! amide relationship: has_role CHEBI:25435 ! mutagen property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C2H6N2O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C2H6N2O/c1-4(2)3-5/h1-2H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UMFJAHHVKNCGLG-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "74.08192" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "74.04801" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN(C)N=O" xsd:string [Term] id: CHEBI:35808 name: citrate(2-) namespace: chebi_ontology def: "A tricarboxylic acid dianion obtained by deprotonation of two of the three carboxy groups of citric acid." [] subset: 3_STAR synonym: "Hcit" RELATED [IUPAC] synonym: "Hcit(2-)" RELATED [ChEBI] synonym: "hydrogen citrate" EXACT IUPAC_NAME [IUPAC] is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H6O7" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "190.10764" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "190.01135" xsd:string [Term] id: CHEBI:35821 name: anticholesteremic drug namespace: chebi_ontology alt_id: CHEBI:64906 def: "A substance used to lower plasma cholesterol levels." [] subset: 3_STAR synonym: "anticholesteremic" RELATED [ChEBI] synonym: "anticholesteremic agent" RELATED [ChEBI] synonym: "anticholesteremic drugs" RELATED [ChEBI] synonym: "antihypercholesterolemic" RELATED [ChEBI] synonym: "antihypercholesterolemic agent" RELATED [ChEBI] synonym: "antihypercholesterolemic agents" RELATED [ChEBI] synonym: "antihypercholesterolemic drug" RELATED [ChEBI] synonym: "antihypercholesterolemic drugs" RELATED [ChEBI] synonym: "antihypercholesterolemics" RELATED [ChEBI] synonym: "cholesterol inhibitor" RELATED [ChEBI] synonym: "cholesterol-lowering agent" RELATED [ChEBI] synonym: "cholesterol-lowering agents" RELATED [ChEBI] synonym: "cholesterol-lowering drug" RELATED [ChEBI] synonym: "cholesterol-lowering drugs" RELATED [ChEBI] synonym: "hypocholesteremic agent" RELATED [ChEBI] is_a: CHEBI:35679 ! antilipemic drug [Term] id: CHEBI:35842 name: antirheumatic drug namespace: chebi_ontology def: "A drug used to treat rheumatoid arthritis." [] subset: 3_STAR synonym: "anti-rheumatic drugs" RELATED [ChEBI] synonym: "antirheumatic agent" RELATED [ChEBI] synonym: "antirheumatic drugs" RELATED [ChEBI] is_a: CHEBI:23888 ! drug is_a: CHEBI:24431 ! chemical entity relationship: has_role EFO:0001899 ! drug role [Term] id: CHEBI:35907 name: glutarate(1-) namespace: chebi_ontology alt_id: CHEBI:30922 alt_id: CHEBI:35906 def: "A dicarboxylic acid monoanion that is the conjugate base of glutaric acid." [] subset: 3_STAR synonym: "4-carboxybutanoate" EXACT IUPAC_NAME [IUPAC] synonym: "hydrogen glutarate" RELATED [ChEBI] xref: Beilstein:3904478 {source="Beilstein"} xref: Gmelin:326031 {source="Gmelin"} xref: Reaxys:3904478 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H7O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H8O4/c6-4(7)2-1-3-5(8)9/h1-3H2,(H,6,7)(H,8,9)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JFCQEDHGNNZCLN-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "131.10668" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "131.03498" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)CCCC([O-])=O" xsd:string [Term] id: CHEBI:36005 name: docosahexaenoic acid namespace: chebi_ontology def: "Any C22 polyunsaturated fatty acid containing six double bonds." [] subset: 3_STAR synonym: "DHA" RELATED [ChEBI] synonym: "docosahexaenoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "docosahexaenoic acids" RELATED [ChEBI] is_a: CHEBI:35366 ! fatty acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H32O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "328.489" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "328.24023" xsd:string [Term] id: CHEBI:36006 name: icosapentaenoic acid namespace: chebi_ontology def: "Any straight-chain, C20 polyunsaturated fatty acid having five C=C double bonds." [] subset: 3_STAR synonym: "20:5" RELATED [ChEBI] synonym: "C20:5" RELATED [ChEBI] synonym: "eicosapentaenoic acid" RELATED [ChEBI] synonym: "eicosapentaenoic acids" RELATED [ChEBI] synonym: "icosapentaenoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "icosapentaenoic acids" RELATED [ChEBI] is_a: CHEBI:35366 ! fatty acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H30O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "302.452" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "302.22458" xsd:string [Term] id: CHEBI:36047 name: antibacterial drug namespace: chebi_ontology def: "A drug used to treat or prevent bacterial infections." [] subset: 3_STAR synonym: "antibacterial drugs" RELATED [ChEBI] xref: Wikipedia:Antibacterial is_a: CHEBI:23888 ! drug is_a: CHEBI:33281 ! antimicrobial agent is_a: EFO:0001899 ! drug role [Term] id: CHEBI:36064 name: taxane namespace: chebi_ontology subset: 3_STAR synonym: "(4R,4aR,6S,9R,10S,12aR)-tetradecahydro-4,9,12a,13,13-pentamethyl-6,10-methanobenzocyclodecene" RELATED [ChemIDplus] synonym: "(4R-(4alpha,4abeta,6alpha,9alpha,10alpha,12aalpha))-tetradecahydro-4,9,12a,13,13-pentamethyl-6,10-methanobenzocyclodecene" RELATED [ChemIDplus] synonym: "taxane" EXACT IUPAC_NAME [IUPAC] xref: CAS:1605-68-1 {source="ChemIDplus"} is_a: CHEBI:35190 ! diterpene property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H36" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H36/c1-14-7-6-11-20(5)12-10-17-15(2)8-9-16(13-18(14)20)19(17,3)4/h14-18H,6-13H2,1-5H3/t14-,15-,16+,17+,18-,20+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DKPFODGZWDEEBT-QFIAKTPHSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "276.49984" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "276.28170" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]12CC[C@@H](C)[C@]([H])(CC[C@]3(C)CCC[C@@H](C)[C@@]3([H])C1)C2(C)C" xsd:string [Term] id: CHEBI:36080 name: protein namespace: chebi_ontology alt_id: CHEBI:13677 alt_id: CHEBI:14911 def: "A biological macromolecule minimally consisting of one polypeptide chain synthesized at the ribosome." [] subset: 3_STAR synonym: "proteins" EXACT IUPAC_NAME [IUPAC] xref: MeSH:D011506 xref: MO:683 xref: NCIt:C17021 xref: PRO:000000001 xref: SNOMEDCT:88878007 is_a: CHEBI:24431 ! chemical entity is_a: EFO:0004446 ! biological macromolecule [Term] id: CHEBI:36110 name: pipecolate namespace: chebi_ontology alt_id: CHEBI:26141 alt_id: CHEBI:30914 def: "A piperidinecarboxylate that is the conjugate base of pipecolic acid." [] subset: 3_STAR synonym: "piperidine-2-carboxylate" EXACT IUPAC_NAME [IUPAC] is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H10NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H11NO2/c8-6(9)5-3-1-2-4-7-5/h5,7H,1-4H2,(H,8,9)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HXEACLLIILLPRG-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "128.14960" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "128.07170" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-]C(=O)C1CCCCN1" xsd:string [Term] id: CHEBI:3614 name: chlorhexidine namespace: chebi_ontology def: "A bisbiguanide compound with a structure consisting of two (p-chlorophenyl)guanide units linked by a hexamethylene bridge." [] subset: 3_STAR synonym: "1,1'-Hexamethylene bis(5-(p-chlorophenyl)biguanide)" RELATED [ChemIDplus] synonym: "Chlorhexidine" EXACT [KEGG_COMPOUND] synonym: "N',N'''''-hexane-1,6-diylbis[N-(4-chlorophenyl)(imidodicarbonimidic diamide)]" EXACT IUPAC_NAME [IUPAC] synonym: "N,N'-Bis(4-chlorophenyl)-3,12-diimino-2,4,11,13-tetraazatetradecanediimidamide" RELATED [ChemIDplus] xref: Beilstein:2826432 {source="Beilstein"} xref: CAS:55-56-1 {source="ChemIDplus"} xref: CAS:55-56-1 {source="KEGG COMPOUND"} xref: Drug_Central:597 {source="DrugCentral"} xref: DrugBank:DB00878 xref: KEGG:C06902 xref: KEGG:D07668 xref: LINCS:LSM-5633 xref: MeSH:D002710 xref: NCIt:C364 xref: PMID:10848923 {source="Europe PMC"} xref: PMID:11564456 {source="Europe PMC"} xref: PMID:16238008 {source="Europe PMC"} xref: PMID:17602516 {source="Europe PMC"} xref: PMID:24384684 {source="Europe PMC"} xref: PMID:33786648 {source="Europe PMC"} xref: PMID:33805369 {source="Europe PMC"} xref: PMID:33850179 {source="Europe PMC"} xref: PMID:33863402 {source="Europe PMC"} xref: Reaxys:2826432 {source="Reaxys"} xref: SNOMEDCT:373568007 xref: SNOMEDCT:96316004 xref: VSDB:1779 xref: Wikipedia:Chlorhexidine is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:36047 ! antibacterial drug relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H30Cl2N10" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C22H30Cl2N10/c23-15-5-9-17(10-6-15)31-21(27)33-19(25)29-13-3-1-2-4-14-30-20(26)34-22(28)32-18-11-7-16(24)8-12-18/h5-12H,1-4,13-14H2,(H5,25,27,29,31,33)(H5,26,28,30,32,34)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GHXZTYHSJHQHIJ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "505.44700" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "504.20320" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Clc1ccc(NC(=N)NC(=N)NCCCCCCNC(=N)NC(=N)Nc2ccc(Cl)cc2)cc1" xsd:string [Term] id: CHEBI:36149 name: 2-hydroxyglutarate(1-) namespace: chebi_ontology def: "A dicarboxylic acid monoanion resulting from the removal of a proton from one of the carboxylic acid groups of 2-hydroxyglutaric acid." [] subset: 3_STAR synonym: "hydrogen 2-hydroxypentanedioate" EXACT IUPAC_NAME [IUPAC] is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H7O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H8O5/c6-3(5(9)10)1-2-4(7)8/h3,6H,1-2H2,(H,7,8)(H,9,10)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HWXBTNAVRSUOJR-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "147.10610" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "147.02990" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H+].OC(CCC([O-])=O)C([O-])=O" xsd:string [Term] id: CHEBI:36165 name: pimelate(2-) namespace: chebi_ontology def: "A dicarboxylic acid dianion obtained by the deprotonation of both the carboxy groups of pimelic acid." [] subset: 3_STAR synonym: "heptanedioate" EXACT IUPAC_NAME [IUPAC] synonym: "heptanedioate" RELATED [UniProt] xref: Beilstein:3905193 {source="Beilstein"} xref: Gmelin:363895 {source="Gmelin"} xref: MetaCyc:CPD-205 xref: Reaxys:3905193 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H10O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H12O4/c8-6(9)4-2-1-3-5-7(10)11/h1-5H2,(H,8,9)(H,10,11)/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WLJVNTCWHIRURA-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "158.15190" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "158.05901" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-]C(=O)CCCCCC([O-])=O" xsd:string [Term] id: CHEBI:36234 name: chenodeoxycholate namespace: chebi_ontology alt_id: CHEBI:13960 alt_id: CHEBI:23093 alt_id: CHEBI:57884 def: "Conjugate base of chenodeoxycholic acid; major species at pH 7.3." [] subset: 3_STAR synonym: "3alpha,7alpha-dihydroxy-5beta-cholan-24-oate" EXACT IUPAC_NAME [IUPAC] synonym: "chenodeoxycholate" EXACT [UniProt] synonym: "chenodeoxycholate anion" RELATED [ChEBI] synonym: "chenodeoxycholate(1-)" RELATED [ChEBI] xref: Beilstein:3703074 {source="Beilstein"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C24H39O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C24H40O4/c1-14(4-7-21(27)28)17-5-6-18-22-19(9-11-24(17,18)3)23(2)10-8-16(25)12-15(23)13-20(22)26/h14-20,22,25-26H,4-13H2,1-3H3,(H,27,28)/p-1/t14-,15+,16-,17-,18+,19+,20-,22+,23+,24-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RUDATBOHQWOJDD-BSWAIDMHSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "391.56406" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "391.28538" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12C[C@H](O)CC[C@]1(C)[C@@]1([H])CC[C@]3(C)[C@]([H])(CC[C@@]3([H])[C@]1([H])[C@H](O)C2)[C@H](C)CCC([O-])=O" xsd:string [Term] id: CHEBI:36252 name: glycochenodeoxycholate namespace: chebi_ontology alt_id: CHEBI:58664 alt_id: CHEBI:59452 def: "A N-acylglycinate that is the conjugate base of glycochenodeoxycholic acid." [] subset: 3_STAR synonym: "glycochenodeoxycholate" EXACT [UniProt] synonym: "N-(3alpha,7alpha-dihydroxy-5beta-cholan-24-oyl)glycinate" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:3730023 {source="Beilstein"} xref: Reaxys:3730023 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C26H42NO5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C26H43NO5/c1-15(4-7-22(30)27-14-23(31)32)18-5-6-19-24-20(9-11-26(18,19)3)25(2)10-8-17(28)12-16(25)13-21(24)29/h15-21,24,28-29H,4-14H2,1-3H3,(H,27,30)(H,31,32)/p-1/t15-,16+,17-,18-,19+,20+,21-,24+,25+,26-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GHCZAUBVMUEKKP-GYPHWSFCSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "448.61542" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "448.30685" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12C[C@H](O)CC[C@]1(C)[C@@]1([H])CC[C@]3(C)[C@]([H])(CC[C@@]3([H])[C@]1([H])[C@H](O)C2)[C@H](C)CCC(=O)NCC([O-])=O" xsd:string [Term] id: CHEBI:36257 name: taurocholate namespace: chebi_ontology def: "An organosulfonate oxoanion that is the conjugate base of taurocholic acid." [] subset: 3_STAR synonym: "2-[(3alpha,7alpha,12alpha-trihydroxy-24-oxo-5beta-cholan-24-yl)amino]ethanesulfonate" EXACT IUPAC_NAME [IUPAC] synonym: "taurocholate" EXACT [UniProt] xref: Beilstein:3919947 {source="Beilstein"} xref: Reaxys:3919947 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C26H44NO7S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C26H45NO7S/c1-15(4-7-23(31)27-10-11-35(32,33)34)18-5-6-19-24-20(14-22(30)26(18,19)3)25(2)9-8-17(28)12-16(25)13-21(24)29/h15-22,24,28-30H,4-14H2,1-3H3,(H,27,31)(H,32,33,34)/p-1/t15-,16+,17-,18-,19+,20+,21-,22+,24+,25+,26-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WBWWGRHZICKQGZ-HZAMXZRMSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "514.69610" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "514.28440" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12C[C@H](O)CC[C@]1(C)[C@@]1([H])C[C@H](O)[C@]3(C)[C@]([H])(CC[C@@]3([H])[C@]1([H])[C@H](O)C2)[C@H](C)CCC(=O)NCCS([O-])(=O)=O" xsd:string [Term] id: CHEBI:36261 name: taurodeoxycholate namespace: chebi_ontology def: "An organosulfonate oxoanion that is the conjugate base of taurodeoxycholic acid." [] subset: 3_STAR synonym: "2-[(3alpha,12alpha-dihydroxy-24-oxo-5beta-cholan-24-yl)amino]ethanesulfonate" EXACT IUPAC_NAME [IUPAC] synonym: "taurodeoxycholate" EXACT [UniProt] xref: Beilstein:3919126 {source="Beilstein"} xref: KEGG:C05463 xref: Reaxys:3919126 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C26H44NO6S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C26H45NO6S/c1-16(4-9-24(30)27-12-13-34(31,32)33)20-7-8-21-19-6-5-17-14-18(28)10-11-25(17,2)22(19)15-23(29)26(20,21)3/h16-23,28-29H,4-15H2,1-3H3,(H,27,30)(H,31,32,33)/p-1/t16-,17-,18-,19+,20-,21+,22+,23+,25+,26-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "AWDRATDZQPNJFN-VAYUFCLWSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "498.69670" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "498.28948" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]12CC[C@@]3([H])[C@]4([H])CC[C@]([H])([C@H](C)CCC(=O)NCCS([O-])(=O)=O)[C@@]4(C)[C@@H](O)C[C@]3([H])[C@@]1(C)CC[C@@H](O)C2" xsd:string [Term] id: CHEBI:36275 name: HETE namespace: chebi_ontology def: "Any monohydroxylated icosanoid having four double bonds." [] subset: 3_STAR synonym: "HETEs" RELATED [ChEBI] synonym: "hydroxyeicosatetraenoic acid" RELATED [ChEBI] synonym: "hydroxyeicosatetraenoic acids" RELATED [ChEBI] xref: PMID:11123211 {source="Europe PMC"} xref: PMID:12681244 {source="Europe PMC"} xref: PMID:17640979 {source="Europe PMC"} is_a: CHEBI:35366 ! fatty acid [Term] id: CHEBI:36313 name: glycerophosphocholine namespace: chebi_ontology alt_id: CHEBI:26698 alt_id: CHEBI:35763 def: "The glycerol phosphate ester of a phosphocholine. A nutrient with many different roles in human health." [] subset: 3_STAR synonym: "glycerophosphocholines" RELATED [ChEBI] xref: PMID:8467564 {source="Europe PMC"} is_a: CHEBI:16247 ! phospholipid [Term] id: CHEBI:36314 name: glycerophosphoethanolamine namespace: chebi_ontology alt_id: CHEBI:26700 alt_id: CHEBI:35765 subset: 3_STAR synonym: "glycerophosphoethanolamines" RELATED [ChEBI] is_a: CHEBI:16247 ! phospholipid is_a: CHEBI:36711 ! phosphoethanolamine [Term] id: CHEBI:3638 name: chloroquine namespace: chebi_ontology def: "An aminoquinoline that is quinoline which is substituted at position 4 by a [5-(diethylamino)pentan-2-yl]amino group at at position 7 by chlorine. It is used for the treatment of malaria, hepatic amoebiasis, lupus erythematosus, light-sensitive skin eruptions, and rheumatoid arthritis." [] subset: 3_STAR synonym: "Aralen" RELATED BRAND_NAME [DrugBank] synonym: "Artrichin" RELATED BRAND_NAME [DrugBank] synonym: "Bemaphate" RELATED BRAND_NAME [DrugBank] synonym: "Capquin" RELATED BRAND_NAME [DrugBank] synonym: "Chlorochin" RELATED [ChemIDplus] synonym: "Chloroquine" EXACT [KEGG_COMPOUND] synonym: "chloroquine" RELATED INN [WHO_MedNet] synonym: "chloroquine" RELATED INN [ChemIDplus] synonym: "chloroquinum" RELATED INN [ChemIDplus] synonym: "cloroquina" RELATED INN [ChemIDplus] synonym: "N(4)-(7-chloro-4-quinolinyl)-N(1),N(1)-diethyl-1,4-pentanediamine" RELATED [NIST_Chemistry_WebBook] synonym: "N(4)-(7-chloroquinolin-4-yl)-N(1),N(1)-diethylpentane-1,4-diamine" EXACT IUPAC_NAME [IUPAC] synonym: "Nivaquine B" RELATED BRAND_NAME [DrugBank] synonym: "Resoquine" RELATED BRAND_NAME [DrugBank] synonym: "Reumachlor" RELATED BRAND_NAME [DrugBank] synonym: "Sanoquin" RELATED BRAND_NAME [DrugBank] xref: Beilstein:482809 {source="Beilstein"} xref: CAS:54-05-7 {source="NIST Chemistry WebBook"} xref: CAS:54-05-7 {source="ChemIDplus"} xref: CAS:54-05-7 {source="KEGG COMPOUND"} xref: Drug_Central:607 {source="DrugCentral"} xref: DrugBank:DB00608 xref: Gmelin:781126 {source="Gmelin"} xref: HMDB:HMDB0014746 xref: KEGG:C07625 xref: KEGG:D02366 xref: LINCS:LSM-1901 xref: MeSH:D002738 xref: NCIt:C61671 xref: Patent:DE683692 xref: Patent:US2233970 xref: PDBeChem:CLQ xref: PMID:11198399 {source="Europe PMC"} xref: PMID:17594118 {source="Europe PMC"} xref: PMID:18052874 {source="Europe PMC"} xref: PMID:19426658 {source="Europe PMC"} xref: PMID:23288916 {source="Europe PMC"} xref: PMID:23580861 {source="Europe PMC"} xref: PMID:23635029 {source="Europe PMC"} xref: PMID:23644906 {source="Europe PMC"} xref: PMID:23706562 {source="Europe PMC"} xref: PMID:23852712 {source="Europe PMC"} xref: PMID:23891850 {source="Europe PMC"} xref: PMID:25285162 {source="Europe PMC"} xref: Reaxys:482809 {source="Reaxys"} xref: SNOMEDCT:14728000 xref: SNOMEDCT:373468005 xref: Wikipedia:Chloroquine is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H26ClN3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H26ClN3/c1-4-22(5-2)12-6-7-14(3)21-17-10-11-20-18-13-15(19)8-9-16(17)18/h8-11,13-14H,4-7,12H2,1-3H3,(H,20,21)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WHTVZRBIWZFKQO-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "319.87200" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "319.18153" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCN(CC)CCCC(C)Nc1ccnc2cc(Cl)ccc12" xsd:string [Term] id: CHEBI:36383 name: strontium dichloride namespace: chebi_ontology subset: 3_STAR synonym: "SrCl2" RELATED [IUPAC] synonym: "strontium chloride" EXACT IUPAC_NAME [IUPAC] synonym: "strontium dichloride" EXACT IUPAC_NAME [IUPAC] xref: CAS:10476-85-4 {source="NIST Chemistry WebBook"} xref: CAS:10476-85-4 {source="ChemIDplus"} xref: Gmelin:463924 {source="Gmelin"} xref: MeSH:C025700 xref: NCIt:C84181 is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "Cl2Sr" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/2ClH.Sr/h2*1H;/q;;+2/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "AHBGXTDRMVNFER-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "158.52540" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "157.84332" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Cl-].[Cl-].[Sr++]" xsd:string [Term] id: CHEBI:36457 name: homocitrate(3-) namespace: chebi_ontology alt_id: CHEBI:11593 alt_id: CHEBI:24608 def: "Tricarboxylate anion of homocitric acid." [] subset: 3_STAR synonym: "2-Hydroxybutane-1,2,4-tricarboxylate" RELATED [KEGG_COMPOUND] synonym: "2-hydroxybutane-1,2,4-tricarboxylate" EXACT IUPAC_NAME [IUPAC] synonym: "3-hydroxy-3-carboxyadipate" RELATED [ChEBI] synonym: "Homocitrate" RELATED [KEGG_COMPOUND] synonym: "homocitrate" RELATED [UniProt] xref: KEGG:C01251 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H7O7" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H10O7/c8-4(9)1-2-7(14,6(12)13)3-5(10)11/h14H,1-3H2,(H,8,9)(H,10,11)(H,12,13)/p-3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XKJVEVRQMLKSMO-UHFFFAOYSA-K" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "203.12630" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "203.02082" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(CCC([O-])=O)(CC([O-])=O)C([O-])=O" xsd:string [Term] id: CHEBI:36458 name: homocitrate(2-) namespace: chebi_ontology subset: 3_STAR is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H8O7" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "204.135" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "204.02700" xsd:string [Term] id: CHEBI:36459 name: homocitrate(1-) namespace: chebi_ontology subset: 3_STAR is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H9O7" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "205.142" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "205.03483" xsd:string [Term] id: CHEBI:3647 name: chlorpromazine namespace: chebi_ontology def: "A substituted phenothiazine in which the ring nitrogen at position 10 is attached to C-3 of an N,N-dimethylpropanamine moiety." [] subset: 3_STAR synonym: "3-(2-chloro-10H-phenothiazin-10-yl)-N,N-dimethyl-1-propanamine" RELATED [NIST_Chemistry_WebBook] synonym: "3-(2-chloro-10H-phenothiazin-10-yl)-N,N-dimethylpropan-1-amine" EXACT IUPAC_NAME [IUPAC] synonym: "3-(2-chlorophenothiazin-10-yl)-N,N-dimethyl-propan-1-amine" RELATED [IUPHAR] synonym: "Aminazine" RELATED BRAND_NAME [ChemIDplus] synonym: "Chlorderazin" RELATED BRAND_NAME [ChemIDplus] synonym: "Chloropromazine" RELATED BRAND_NAME [IUPHAR] synonym: "Chlorpromados" RELATED BRAND_NAME [ChemIDplus] synonym: "Chlorpromazine" EXACT [KEGG_COMPOUND] synonym: "chlorpromazine" RELATED INN [ChemIDplus] synonym: "chlorpromazinum" RELATED INN [ChemIDplus] synonym: "clorpromazina" RELATED INN [ChemIDplus] synonym: "Contomin" RELATED BRAND_NAME [ChemIDplus] synonym: "CPZ" RELATED [ChemIDplus] synonym: "Largactil" RELATED BRAND_NAME [IUPHAR] synonym: "N-(3-dimethylaminopropyl)-3-chlorophenothiazine" RELATED [ChemIDplus] synonym: "Thorazine" RELATED BRAND_NAME [IUPHAR] xref: Beilstein:289793 {source="Beilstein"} xref: CAS:50-53-3 {source="NIST Chemistry WebBook"} xref: CAS:50-53-3 {source="ChemIDplus"} xref: CAS:50-53-3 {source="KEGG COMPOUND"} xref: ChEMBL:106216 xref: ChemIDplus:50-53-3 xref: CiteXplore:1650428 xref: CiteXplore:2427628 xref: Drug_Central:621 {source="DrugCentral"} xref: DrugBank:DB00477 xref: HMDB:HMDB0014620 xref: KEGG COMPOUND:50-53-3 xref: KEGG COMPOUND:C06906 xref: KEGG DRUG:D00270 xref: KEGG:C06906 xref: KEGG:D00270 xref: LINCS:LSM-4017 xref: MeSH:D002746 xref: NCIt:C367 xref: NIST Chemistry WebBook:50-53-3 xref: Patent:US2645640 xref: PDBeChem:Z80 xref: PMID:14354584 {source="Europe PMC"} xref: PMID:14404586 {source="Europe PMC"} xref: PMID:15170372 {source="Europe PMC"} xref: PMID:1650428 {source="Europe PMC"} xref: PMID:16653219 {source="Europe PMC"} xref: PMID:20825390 {source="Europe PMC"} xref: PMID:2427628 {source="Europe PMC"} xref: PMID:7192992 {source="Europe PMC"} xref: Reaxys:289793 {source="Reaxys"} xref: SNOMEDCT:387258005 xref: SNOMEDCT:47331002 xref: Wikipedia:Chlorpromazine is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:37930 ! phenothiazine antipsychotic drug property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C17H19ClN2S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C17H19ClN2S/c1-19(2)10-5-11-20-14-6-3-4-7-16(14)21-17-9-8-13(18)12-15(17)20/h3-4,6-9,12H,5,10-11H2,1-2H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ZPEIMTDSQAKGNT-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "318.86400" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "318.09575" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN(C)CCCN1c2ccccc2Sc2ccc(Cl)cc12" xsd:string [Term] id: CHEBI:3650 name: chlorpropamide namespace: chebi_ontology alt_id: CHEBI:108516 def: "An N-sulfonylurea that is urea in which a hydrogen attached to one of the nitrogens is substituted by 4-chlorobenzenesulfonyl group and a hydrogen attached to the other nitrogen is substituted by propyl group. Chlorpropamide is a hypoglycaemic agent used in the treatment of type 2 (non-insulin-dependent) diabetes mellitus not responding to dietary modification." [] subset: 3_STAR synonym: "1-(p-chlorobenzenesulfonyl)-3-propylurea" RELATED [NIST_Chemistry_WebBook] synonym: "1-(p-chlorophenylsulfonyl)-3-propylurea" RELATED [NIST_Chemistry_WebBook] synonym: "1-propyl-3-(p-chlorobenzenesulfonyl)urea" RELATED [NIST_Chemistry_WebBook] synonym: "4-chloro-N-((propylamino)carbonyl)benzenesulfonamide" RELATED [ChEMBL] synonym: "4-chloro-N-[(propylamino)carbonyl]benzenesulfonamide" RELATED [ChEMBL] synonym: "CHLORPROPAMIDE" EXACT [ChEMBL] synonym: "chlorpropamide" RELATED INN [ChemIDplus] synonym: "chlorpropamide" RELATED INN [WHO_MedNet] synonym: "chlorpropamidum" RELATED INN [ChemIDplus] synonym: "clorpropamida" RELATED INN [ChemIDplus] synonym: "N-(4-chlorophenylsulfonyl)-N'-propylurea" RELATED [NIST_Chemistry_WebBook] synonym: "N-(p-chlorobenzenesulfonyl)-N'-propylurea" RELATED [NIST_Chemistry_WebBook] synonym: "n-propyl-N'-(p-chlorobenzenesulfonyl)urea" RELATED [NIST_Chemistry_WebBook] synonym: "n-propyl-N'-p-chlorophenylsulfonylcarbamide" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:2218363 {source="Beilstein"} xref: CAS:94-20-2 {source="KEGG DRUG"} xref: CAS:94-20-2 {source="ChemIDplus"} xref: CAS:94-20-2 {source="NIST Chemistry WebBook"} xref: ChEMBL:10891117 xref: ChEMBL:2657066 xref: ChEMBL:3806586 xref: ChemIDplus:94-20-2 xref: Drug_Central:622 {source="DrugCentral"} xref: DrugBank:DB00672 xref: HMDB:HMDB0014810 xref: KEGG DRUG:94-20-2 xref: KEGG DRUG:D00271 xref: KEGG:D00271 xref: LINCS:LSM-6695 xref: MeSH:D002747 xref: NCIt:C47447 xref: NIST Chemistry WebBook:94-20-2 xref: Patent:GB853555 xref: Patent:US3349124 xref: PMID:10891117 {source="ChEMBL"} xref: PMID:2657066 {source="ChEMBL"} xref: PMID:3806586 {source="ChEMBL"} xref: Reaxys:2218363 {source="Reaxys"} xref: SNOMEDCT:111154004 xref: SNOMEDCT:386991003 xref: Wikipedia:Chlorpropamide is_a: EFO:0004417 ! amide relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H13ClN2O3S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H13ClN2O3S/c1-2-7-12-10(14)13-17(15,16)9-5-3-8(11)4-6-9/h3-6H,2,7H2,1H3,(H2,12,13,14)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RKWGIWYCVPQPMF-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "276.74000" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "276.03354" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCNC(=O)NS(=O)(=O)c1ccc(Cl)cc1" xsd:string [Term] id: CHEBI:3663 name: cholesteryl palmitate namespace: chebi_ontology alt_id: CHEBI:84319 def: "A cholesterol ester obtained by the formal condensation of cholesterol with palmitic acid." [] subset: 3_STAR synonym: "(3beta)-cholest-5-en-3-ol hexadecanoate" RELATED [NIST_Chemistry_WebBook] synonym: "(3beta)-cholest-5-en-3-yl hexadecanoate" EXACT IUPAC_NAME [IUPAC] synonym: "16:0 Cholesterol ester" RELATED [HMDB] synonym: "CE" RELATED [ChEBI] synonym: "CE(16:0)" RELATED [HMDB] synonym: "cholesterol palmitate" RELATED [NIST_Chemistry_WebBook] synonym: "cholesteryl hexadecanoate" RELATED [ChemIDplus] synonym: "cholesteryl hexadecanoate" RELATED [UniProt] synonym: "Cholesteryl palmitate" EXACT [KEGG_COMPOUND] synonym: "hexadecanoic acid, cholesteryl ester" RELATED [ChemIDplus] synonym: "Palmitic acid cholesteryl ester" RELATED [HMDB] xref: Beilstein:2342867 {source="Beilstein"} xref: CAS:601-34-3 {source="KEGG COMPOUND"} xref: CAS:601-34-3 {source="ChemIDplus"} xref: CAS:601-34-3 {source="NIST Chemistry WebBook"} xref: HMDB:HMDB0000885 xref: KEGG:C11251 xref: LIPID_MAPS_instance:LMST01020005 {source="LIPID MAPS"} xref: PMID:26884207 {source="Europe PMC"} xref: PMID:3605272 {source="Europe PMC"} xref: PMID:3734635 {source="Europe PMC"} xref: PMID:4147522 {source="Europe PMC"} xref: PMID:7190843 {source="Europe PMC"} xref: Reaxys:2342867 {source="Reaxys"} is_a: CHEBI:17002 ! cholesteryl ester property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C43H76O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C43H76O2/c1-7-8-9-10-11-12-13-14-15-16-17-18-19-23-41(44)45-36-28-30-42(5)35(32-36)24-25-37-39-27-26-38(34(4)22-20-21-33(2)3)43(39,6)31-29-40(37)42/h24,33-34,36-40H,7-23,25-32H2,1-6H3/t34-,36+,37+,38-,39+,40+,42+,43-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BBJQPKLGPMQWBU-JADYGXMDSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "625.06234" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "624.58453" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]1(CC[C@@]2([H])[C@]3([H])CC=C4C[C@H](CC[C@]4(C)[C@@]3([H])CC[C@]12C)OC(=O)CCCCCCCCCCCCCCC)[C@H](C)CCCC(C)C" xsd:string [Term] id: CHEBI:36659 name: 3-(4-hydroxyphenyl)lactate namespace: chebi_ontology alt_id: CHEBI:1117 alt_id: CHEBI:11726 alt_id: CHEBI:19598 alt_id: CHEBI:19932 alt_id: CHEBI:28403 def: "A 2-hydroxy carboxylate that is obtained by removal of a proton from the carboxylic acid group of 3-(4-hydroxyphenyl)lactic acid." [] subset: 3_STAR synonym: "2-Hydroxy-3-(4-hydroxyphenyl)propanoate" RELATED [KEGG_COMPOUND] synonym: "2-hydroxy-3-(4-hydroxyphenyl)propanoate" RELATED [UniProt] synonym: "3-(4-Hydroxyphenyl)lactate" EXACT [KEGG_COMPOUND] synonym: "4-Hydroxyphenyllactate" RELATED [KEGG_COMPOUND] synonym: "p-Hydroxyphenyllactate" RELATED [KEGG_COMPOUND] xref: KEGG:C03672 xref: MetaCyc:4-HYDROXYPHENYLLACTATE is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H9O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H10O4/c10-7-3-1-6(2-4-7)5-8(11)9(12)13/h1-4,8,10-11H,5H2,(H,12,13)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JVGVDSSUAVXRDY-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "181.16540" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "181.05063" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(Cc1ccc(O)cc1)C([O-])=O" xsd:string [Term] id: CHEBI:36711 name: phosphoethanolamine namespace: chebi_ontology subset: 3_STAR synonym: "phosphoethanolamines" RELATED [ChEBI] is_a: CHEBI:26020 ! phosphate [Term] id: CHEBI:36779 name: sapphyrin namespace: chebi_ontology def: "A cyclic pentapyrrole where the five pyrrole units are joined at their 2- and 5-positions via four methine linkages and one direct 2-5'-linkage." [] subset: 3_STAR synonym: "(6Z,11Z,15Z,20Z)-25,26,27,28,29-pentaazahexacyclo[20.2.1.1(2,5).1(7,10).1(12,15).1(17,20)]nonacosa-1(24),2,4,6,8,10(28),11,13,15,17(26),18,20,22-tridecaene" EXACT IUPAC_NAME [IUPAC] synonym: "sapphyrin" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:7662683 {source="Beilstein"} xref: PMID:22070570 {source="Europe PMC"} xref: Reaxys:7662683 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C24H17N5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C24H17N5/c1-2-16-12-18-4-6-20(27-18)14-22-8-10-24(29-22)23-9-7-21(28-23)13-19-5-3-17(26-19)11-15(1)25-16/h1-14,25,28-29H/b15-11-,16-12-,17-11-,18-12-,19-13-,20-14-,21-13-,22-14-,24-23-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "COFLCBMDHTVQRA-DABHNVCVSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "375.42548" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "375.14840" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "c1cc2cc3ccc([nH]3)c3ccc(cc4ccc(cc5ccc(cc1n2)[nH]5)n4)[nH]3" xsd:string [Term] id: CHEBI:36791 name: escitalopram namespace: chebi_ontology def: "A 1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile that has S-configuration at the chiral centre. It is the active enantiomer of citalopram." [] subset: 3_STAR synonym: "(+)-citalopram" RELATED [ChEBI] synonym: "(1S)-1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile" EXACT IUPAC_NAME [IUPAC] synonym: "(S)-citalopram" RELATED [ChemIDplus] synonym: "escitalopram" RELATED INN [WHO_MedNet] synonym: "escitalopramum" RELATED INN [WHO_MedNet] synonym: "Esertia" RELATED BRAND_NAME [KEGG_DRUG] synonym: "S(+)-citalopram" RELATED [ChemIDplus] synonym: "S-(+)-citalopram" RELATED [ChEBI] xref: Beilstein:9001444 {source="Beilstein"} xref: CAS:128196-01-0 {source="ChemIDplus"} xref: Drug_Central:1053 {source="DrugCentral"} xref: DrugBank:DB01175 xref: HMDB:HMDB0005028 xref: KEGG:D07913 xref: LINCS:LSM-3569 xref: PMID:14501259 {source="Europe PMC"} xref: PMID:14594439 {source="Europe PMC"} xref: PMID:14708881 {source="Europe PMC"} xref: PMID:15200745 {source="Europe PMC"} xref: PMID:15609164 {source="Europe PMC"} xref: PMID:16266205 {source="Europe PMC"} xref: PMID:16421462 {source="Europe PMC"} xref: PMID:16937393 {source="Europe PMC"} xref: PMID:16953656 {source="Europe PMC"} xref: PMID:18789789 {source="Europe PMC"} xref: PMID:19710642 {source="Europe PMC"} xref: PMID:20825390 {source="Europe PMC"} xref: PMID:24172161 {source="Europe PMC"} xref: PMID:24176515 {source="Europe PMC"} xref: PMID:24289655 {source="Europe PMC"} xref: PMID:24424469 {source="Europe PMC"} xref: PMID:24469525 {source="Europe PMC"} xref: PMID:24528284 {source="Europe PMC"} xref: Wikipedia:Escitalopram is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H21FN2O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H21FN2O/c1-23(2)11-3-10-20(17-5-7-18(21)8-6-17)19-9-4-15(13-22)12-16(19)14-24-20/h4-9,12H,3,10-11,14H2,1-2H3/t20-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WSEQXVZVJXJVFP-FQEVSTJZSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "324.39202" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "324.16379" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN(C)CCC[C@]1(OCc2cc(ccc12)C#N)c1ccc(F)cc1" xsd:string [Term] id: CHEBI:36799 name: campestanol namespace: chebi_ontology alt_id: CHEBI:20641 alt_id: CHEBI:22992 subset: 3_STAR synonym: "(24R)-5alpha-ergostan-3beta-ol" RELATED [IUPAC] synonym: "5alpha-campestan-3beta-ol" EXACT IUPAC_NAME [IUPAC] synonym: "5alpha-Campestanol" RELATED [KEGG_COMPOUND] synonym: "campestanol" EXACT [UniProt] xref: Beilstein:3209563 {source="Beilstein"} xref: CAS:474-60-2 {source="KEGG COMPOUND"} xref: CAS:474-60-2 {source="ChemIDplus"} xref: KEGG:C15787 xref: KNApSAcK:C00007516 xref: LIPID_MAPS_instance:LMST01030103 {source="LIPID MAPS"} is_a: CHEBI:15889 ! sterol property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C28H50O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C28H50O/c1-18(2)19(3)7-8-20(4)24-11-12-25-23-10-9-21-17-22(29)13-15-27(21,5)26(23)14-16-28(24,25)6/h18-26,29H,7-17H2,1-6H3/t19-,20-,21+,22+,23+,24-,25+,26+,27+,28-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ARYTXMNEANMLMU-ATEDBJNTSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "402.69600" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "402.38617" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12CC[C@]3([H])[C@]([H])(CC[C@]4(C)[C@]([H])(CC[C@@]34[H])[C@H](C)CC[C@@H](C)C(C)C)[C@@]1(C)CC[C@H](O)C2" xsd:string [Term] id: CHEBI:3699 name: cimetidine namespace: chebi_ontology def: "A member of the class of guanidines that consists of guanidine carrying a methyl substituent at position 1, a cyano group at position 2 and a 2-{[(5-methyl-1H-imidazol-4-yl)methyl]sulfanyl}ethyl group at position 3. It is a H2-receptor antagonist that inhibits the production of acid in stomach." [] subset: 3_STAR synonym: "1-Cyano-2-methyl-3-(2-(((5-methyl-4-imidazolyl)methyl)thio)ethyl)guanidine" RELATED [ChemIDplus] synonym: "2-cyano-1-methyl-3-(2-(((5-methylimidazol-4-yl)methyl)thio)ethyl)guanidine" RELATED [NIST_Chemistry_WebBook] synonym: "2-cyano-1-methyl-3-(2-{[(5-methyl-1H-imidazol-4-yl)methyl]sulfanyl}ethyl)guanidine" EXACT IUPAC_NAME [IUPAC] synonym: "Cimetag" RELATED BRAND_NAME [DrugBank] synonym: "cimetidina" RELATED INN [ChemIDplus] synonym: "cimetidine" RELATED INN [ChEBI] synonym: "cimetidine" RELATED INN [ChemIDplus] synonym: "cimetidinum" RELATED INN [ChemIDplus] synonym: "N''-cyano-N-methyl-N'-(2-{[(5-methyl-1H-imidazol-4-yl)methyl]thio}ethyl)guanidine" RELATED [ChEBI] synonym: "N-cyano-N'-methyl-N''-(2-([(5-methyl-1H-imidazol-4-yl)methyl]sulfanyl)ethyl)guanidine" RELATED [NIST_Chemistry_WebBook] synonym: "Tagamet HB 200" RELATED BRAND_NAME [DrugBank] synonym: "Ulcerfen" RELATED BRAND_NAME [DrugBank] xref: CAS:51481-61-9 {source="ChemIDplus"} xref: CAS:51481-61-9 {source="NIST Chemistry WebBook"} xref: CAS:51481-61-9 {source="KEGG COMPOUND"} xref: Drug_Central:645 {source="DrugCentral"} xref: DrugBank:DB00501 xref: HMDB:HMDB0014644 xref: KEGG:D00295 xref: LINCS:LSM-2404 xref: Patent:BE804144 xref: Patent:US3950333 xref: PMID:11910267 {source="Europe PMC"} xref: PMID:15637527 {source="Europe PMC"} xref: PMID:7229121 {source="Europe PMC"} xref: Reaxys:6516325 {source="Reaxys"} xref: VSDB:1892 xref: Wikipedia:Cimetidine is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H16N6S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H16N6S/c1-8-9(16-7-15-8)5-17-4-3-13-10(12-2)14-6-11/h7H,3-5H2,1-2H3,(H,15,16)(H2,12,13,14)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "AQIXAKUUQRKLND-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "252.34048" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "252.11572" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN\\C(NCCSCc1nc[nH]c1C)=N\\C#N" xsd:string [Term] id: CHEBI:37024 name: 2-aminoadipic acid namespace: chebi_ontology alt_id: CHEBI:64698 def: "An alpha-amino acid that is adipic acid bearing a single amino substituent at position 2. An intermediate in the formation of lysine." [] subset: 3_STAR synonym: "(+/-)-2-Aminoadipic acid" RELATED [HMDB] synonym: "2-aminoadipic acid" EXACT [ChemIDplus] synonym: "2-aminohexanedioic acid" EXACT IUPAC_NAME [IUPAC] synonym: "Aad" RELATED [ChEBI] synonym: "alpha-Aminoadipic acid" RELATED [HMDB] synonym: "alpha-aminoadipic acid" RELATED [ChemIDplus] synonym: "aminoadipic acid" RELATED [ChEBI] synonym: "DL-2-Aminoadipic acid" RELATED [HMDB] synonym: "DL-2-Aminohexanedioic acid" RELATED [HMDB] synonym: "DL-alpha-Aminoadipic acid" RELATED [HMDB] xref: Beilstein:1724349 {source="Beilstein"} xref: Beilstein:1773077 {source="ChemIDplus"} xref: CAS:542-32-5 {source="ChemIDplus"} xref: HMDB:HMDB0000510 xref: PMID:22264337 {source="Europe PMC"} xref: PMID:31148 {source="Europe PMC"} xref: PMID:6462455 {source="Europe PMC"} xref: Reaxys:1724349 {source="Reaxys"} xref: Wikipedia:Alpha-Aminoadipic_acid is_a: CHEBI:18059 ! lipid is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H11NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H11NO4/c7-4(6(10)11)2-1-3-5(8)9/h4H,1-3,7H2,(H,8,9)(H,10,11)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OYIFNHCXNCRBQI-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "161.15588" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "161.06881" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NC(CCCC(O)=O)C(O)=O" xsd:string [Term] id: CHEBI:37054 name: 3-hydroxybutyrate namespace: chebi_ontology def: "A hydroxy fatty acid anion that is the conjugate base of 3-hydroxybutyric acid, obtained by deprotonation of the carboxy group; major species at pH 7.3." [] subset: 3_STAR synonym: "3-hydroxybutanoate" EXACT IUPAC_NAME [IUPAC] synonym: "3-hydroxybutanoate" RELATED [UniProt] synonym: "3-OH butyrate" RELATED [ChEBI] synonym: "3-OH-butyrate" RELATED [ChEBI] synonym: "beta-hydroxy-n-butyrate" RELATED [ChEBI] synonym: "beta-hydroxybutanoate" RELATED [ChEBI] synonym: "DL-3-hydroxybutyrate" RELATED [ChEBI] xref: Beilstein:4127635 {source="Beilstein"} xref: Reaxys:4127635 {source="Reaxys"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H7O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H8O3/c1-3(5)2-4(6)7/h3,5H,2H2,1H3,(H,6,7)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WHBMMWSBFZVSSR-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "103.09658" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "103.04007" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(O)CC([O-])=O" xsd:string [Term] id: CHEBI:37154 name: fumarate(1-) namespace: chebi_ontology def: "A hydrogen butenedioate obtained by deprotonation of one of the carboxy groups of fumaric acid." [] subset: 3_STAR synonym: "(2E)-3-carboxyacrylate" RELATED [IUPAC] synonym: "(2E)-3-carboxyprop-2-enoate" EXACT IUPAC_NAME [IUPAC] synonym: "fumarate monoanion" RELATED [ChEBI] synonym: "hydrogen fumarate" RELATED [ChEBI] xref: Beilstein:1906438 {source="Beilstein"} xref: Gmelin:325290 {source="Gmelin"} xref: Reaxys:1906438 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H3O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H4O4/c5-3(6)1-2-4(7)8/h1-2H,(H,5,6)(H,7,8)/p-1/b2-1+" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VZCYOOQTPOCHFL-OWOJBTEDSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "115.06422" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "115.00368" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)\\C=C\\C([O-])=O" xsd:string [Term] id: CHEBI:37156 name: maleate(1-) namespace: chebi_ontology def: "A hydrogen butenedioate that is the conjugate base of maleic acid." [] subset: 3_STAR synonym: "(2Z)-3-carboxyacrylate" RELATED [IUPAC] synonym: "(2Z)-3-carboxyprop-2-enoate" EXACT IUPAC_NAME [IUPAC] synonym: "Hmale" RELATED [IUPAC] synonym: "hydrogen maleate" RELATED [ChEBI] xref: Beilstein:3537457 {source="Beilstein"} xref: Gmelin:325289 {source="Gmelin"} xref: Reaxys:3537457 {source="Reaxys"} is_a: CHEBI:132951 ! maleate property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H3O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H4O4/c5-3(6)1-2-4(7)8/h1-2H,(H,5,6)(H,7,8)/p-1/b2-1-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VZCYOOQTPOCHFL-UPHRSURJSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "115.06422" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "115.00368" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)\\C=C/C([O-])=O" xsd:string [Term] id: CHEBI:3723 name: citalopram namespace: chebi_ontology def: "A racemate comprising equimolar amounts of (R)-citalopram and its enantiomer, escitalopram. It is used as an antidepressant, although only escitalopram is active." [] subset: 3_STAR synonym: "1,3-dihydro-1-(3-(dimethylamino)propyl)-1-(4-fluorophenyl)-5-isobenzofurancarbonitrile" RELATED [ChemIDplus] synonym: "1-(3-(dimethylamino)propyl)-1-(p-fluorophenyl)-5-phthalancarbonitrile" RELATED [ChemIDplus] synonym: "Cipram" RELATED BRAND_NAME [ChemIDplus] synonym: "Citadur" RELATED BRAND_NAME [KEGG_DRUG] synonym: "Citalopram" EXACT [KEGG_COMPOUND] synonym: "citalopram" RELATED INN [WHO_MedNet] synonym: "citalopram" RELATED INN [ChemIDplus] synonym: "citalopramum" RELATED INN [ChemIDplus] synonym: "Lu 10-171" RELATED [ChemIDplus] synonym: "Nitalapram" RELATED [ChemIDplus] synonym: "rac-1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:1397373 {source="Beilstein"} xref: CAS:59729-33-8 {source="KEGG COMPOUND"} xref: CAS:59729-33-8 {source="NIST Chemistry WebBook"} xref: CAS:59729-33-8 {source="ChemIDplus"} xref: ChemIDplus:59729-33-8 xref: DrugBank:DB00215 xref: HMDB:HMDB0005038 xref: KEGG COMPOUND:59729-33-8 xref: KEGG COMPOUND:C07572 xref: KEGG:C07572 xref: KEGG:D07704 xref: MeSH:D015283 xref: NCIt:C61680 xref: NIST Chemistry WebBook:59729-33-8 xref: Patent:DE2657013 xref: Patent:EP0171943 xref: Patent:EP1506963 xref: Patent:US4136193 xref: PMID:11336616 {source="Europe PMC"} xref: PMID:18213744 {source="Europe PMC"} xref: PMID:18219053 {source="Europe PMC"} xref: PMID:19747949 {source="Europe PMC"} xref: PMID:20825390 {source="Europe PMC"} xref: Reaxys:1397373 {source="Reaxys"} xref: SNOMEDCT:321986007 xref: SNOMEDCT:372596005 xref: Wikipedia:Citalopram is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:35469 ! antidepressant property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H21FN2O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "324.393" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "324.16379" xsd:string [Term] id: CHEBI:37415 name: alpha-amanitin namespace: chebi_ontology alt_id: CHEBI:10207 alt_id: CHEBI:37414 def: "A heterodetic cyclic peptide consisting of eight amino acid residues and containing a thioether bridge between a cysteine and a tryptophan residue. It is found in a number of poisonous mushrooms, including Amanita phalloides (the death cap), Galerina marginata, and and Conocybe filaris." [] subset: 3_STAR synonym: "1,8-anhydro-S(1),C(2.5)-cyclo[L-cysteinyl-L-asparaginyl-trans-4-hydroxy-L-prolyl-(R)-4,5-dihydroxy-L-isoleucyl-6-hydroxy-L-tryptophylglycyl-L-isoleucylglycine] (R)-S(1)-oxide" EXACT IUPAC_NAME [IUPAC] synonym: "alpha-Amanitin" EXACT [KEGG_COMPOUND] synonym: "alpha-Amanitine" RELATED [ChemIDplus] synonym: "alpha-Amatoxin" RELATED [ChemIDplus] xref: Beilstein:1071138 {source="Beilstein"} xref: CAS:23109-05-9 {source="ChemIDplus"} xref: CAS:23109-05-9 {source="KEGG COMPOUND"} xref: KEGG:C08438 xref: KNApSAcK:C00001516 xref: MeSH:D053959 xref: PMID:109306 {source="Europe PMC"} xref: PMID:17525082 {source="Europe PMC"} xref: PMID:19556115 {source="Europe PMC"} xref: PMID:20529816 {source="Europe PMC"} xref: PMID:23763309 {source="Europe PMC"} xref: PMID:6208374 {source="Europe PMC"} xref: PMID:6630208 {source="Europe PMC"} xref: PMID:9093889 {source="Europe PMC"} xref: Reaxys:1071138 {source="Reaxys"} xref: Wikipedia:Alpha-amanitin is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:27026 ! toxin property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C39H54N10O14S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C39H54N10O14S/c1-4-16(2)31-36(60)42-11-29(55)43-25-15-64(63)38-21(20-6-5-18(51)7-22(20)46-38)9-23(33(57)41-12-30(56)47-31)44-37(61)32(17(3)27(53)14-50)48-35(59)26-8-19(52)13-49(26)39(62)24(10-28(40)54)45-34(25)58/h5-7,16-17,19,23-27,31-32,46,50-53H,4,8-15H2,1-3H3,(H2,40,54)(H,41,57)(H,42,60)(H,43,55)(H,44,61)(H,45,58)(H,47,56)(H,48,59)/t16-,17-,19+,23-,24-,25-,26-,27-,31-,32-,64+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CIORWBWIBBPXCG-SXZCQOKQSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "918.97106" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "918.35417" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]12Cc3c([nH]c4cc(O)ccc34)[S@](=O)C[C@]([H])(NC(=O)CNC(=O)[C@@]([H])(NC(=O)CNC1=O)[C@@H](C)CC)C(=O)N[C@@H](CC(N)=O)C(=O)N1C[C@H](O)C[C@@]1([H])C(=O)N[C@@]([H])([C@@H](C)[C@@H](O)CO)C(=O)N2" xsd:string [Term] id: CHEBI:3745 name: clindamycin namespace: chebi_ontology alt_id: CHEBI:47331 def: "A carbohydrate-containing antibiotic that is the semisynthetic derivative of lincomycin, a natural antibiotic." [] subset: 3_STAR synonym: "7(S)-Chloro-7-deoxylincomycin" RELATED [ChemIDplus] synonym: "7-CDL" RELATED [ChemIDplus] synonym: "Cleocin (TN)" RELATED [KEGG_DRUG] synonym: "Clindamycin" EXACT [KEGG_COMPOUND] synonym: "Methyl 7-chloro-6,7,8-trideoxy-6-(1-methyl-trans-4-propyl-L-2-pyrrolidinecarboxamido)-1-thio-L-threo-alpha-D-galacto-octopyranoside" RELATED [ChemIDplus] synonym: "methyl 7-chloro-6,7,8-trideoxy-6-({[(2S,4R)-1-methyl-4-propylpyrrolidin-2-yl]carbonyl}amino)-1-thio-D-glycero-alpha-D-galacto-octopyranoside" EXACT IUPAC_NAME [IUPAC] xref: CAS:18323-44-9 {source="ChemIDplus"} xref: CAS:18323-44-9 {source="KEGG COMPOUND"} xref: DrugBank:DB01190 xref: HMDB:HMDB0015321 xref: KEGG:C06914 xref: KEGG:C13684 xref: KEGG:D00277 xref: KEGG:D02132 xref: MeSH:D002981 xref: NCIt:C377 xref: PMID:11691576 {source="Europe PMC"} xref: PMID:18695329 {source="Europe PMC"} xref: PMID:24310902 {source="Europe PMC"} xref: Reaxys:5624049 {source="Reaxys"} xref: SNOMEDCT:372786004 xref: SNOMEDCT:58883005 xref: Wikipedia:Clindamycin is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:33281 ! antimicrobial agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H33ClN2O5S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H33ClN2O5S/c1-5-6-10-7-11(21(3)8-10)17(25)20-12(9(2)19)16-14(23)13(22)15(24)18(26-16)27-4/h9-16,18,22-24H,5-8H2,1-4H3,(H,20,25)/t9?,10-,11+,12?,13+,14-,15-,16-,18-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KDLRVYVGXIQJDK-NOWPCOIGSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "424.98380" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "424.17987" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCC[C@@H]1C[C@H](N(C)C1)C(=O)NC(C(C)Cl)[C@H]1O[C@H](SC)[C@H](O)[C@@H](O)[C@H]1O" xsd:string [Term] id: CHEBI:37455 name: ribulose 5-phosphate namespace: chebi_ontology alt_id: CHEBI:13040 alt_id: CHEBI:26572 def: "A ribulose phosphate in which the phosphate group is attached at position 5." [] subset: 3_STAR synonym: "erythro-pentos-2-ulose 5-(dihydrogen phosphate)" EXACT IUPAC_NAME [IUPAC] synonym: "ribulose 5-phosphates" RELATED [ChEBI] xref: Wikipedia:Ribulose_5-phosphate is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H11O8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "230.110" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "230.01915" xsd:string [Term] id: CHEBI:3750 name: clofibrate namespace: chebi_ontology def: "The ethyl ester of clofibric acid." [] subset: 3_STAR synonym: "2-(4-Chlorophenoxy)-2-methylpropanoic acid ethyl ester" RELATED [ChemIDplus] synonym: "2-(p-Chlorophenoxy)-2-methylpropionic acid ethyl ester" RELATED [ChemIDplus] synonym: "alpha-(p-Chlorophenoxy)isobutyric acid, ethyl ester" RELATED [ChemIDplus] synonym: "alpha-p-Chlorophenoxyisobutyryl ethyl ester" RELATED [ChemIDplus] synonym: "Atromid-S" RELATED BRAND_NAME [KEGG_DRUG] synonym: "Clofibrate" EXACT [KEGG_COMPOUND] synonym: "clofibrate" RELATED INN [ChemIDplus] synonym: "clofibrato" RELATED INN [ChemIDplus] synonym: "clofibratum" RELATED INN [ChemIDplus] synonym: "ELPI" RELATED BRAND_NAME [DrugBank] synonym: "EPIB" RELATED [DrugBank] synonym: "ethyl 2-(4-chlorophenoxy)-2-methylpropanoate" EXACT IUPAC_NAME [IUPAC] synonym: "Ethyl 2-(p-chlorophenoxy)isobutyrate" RELATED [ChemIDplus] synonym: "Ethyl chlorophenoxyisobutyrate" RELATED [ChemIDplus] synonym: "Ethyl clofibrate" RELATED [ChemIDplus] synonym: "Lipofacton" RELATED BRAND_NAME [DrugBank] synonym: "Liprin" RELATED [ChemIDplus] xref: Beilstein:1913459 {source="Beilstein"} xref: CAS:637-07-0 {source="NIST Chemistry WebBook"} xref: CAS:637-07-0 {source="ChemIDplus"} xref: ChEMBL:116415 xref: ChemIDplus:637-07-0 xref: Chemspider:2694 xref: Drug_Central:694 {source="DrugCentral"} xref: DrugBank:DB00636 xref: HMDB:HMDB0014774 xref: KEGG COMPOUND:637-07-0 xref: KEGG COMPOUND:C06916 xref: KEGG DRUG:D00279 xref: KEGG:C06916 xref: KEGG:D00279 xref: LINCS:LSM-2996 xref: MeSH:D002994 xref: NCIt:C378 xref: Patent:GB860303 xref: Patent:US3262850 xref: PMCID:PMC7258001 {source="Europe PMC"} xref: PMCID:PMC8265473 {source="Europe PMC"} xref: PMID:23603800 {source="Europe PMC"} xref: PMID:26949064 {source="Europe PMC"} xref: PMID:27354598 {source="Europe PMC"} xref: PMID:28248971 {source="Europe PMC"} xref: PMID:28485676 {source="Europe PMC"} xref: PMID:28512725 {source="Europe PMC"} xref: PMID:28779283 {source="Europe PMC"} xref: PMID:29059162 {source="Europe PMC"} xref: PMID:30642049 {source="Europe PMC"} xref: PMID:33070841 {source="Europe PMC"} xref: PMID:33893992 {source="Europe PMC"} xref: SNOMEDCT:387439004 xref: SNOMEDCT:77035009 xref: Wikipedia:Clofibrate is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:35679 ! antilipemic drug relationship: has_role CHEBI:35821 ! anticholesteremic drug property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12H15ClO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C12H15ClO3/c1-4-15-11(14)12(2,3)16-10-7-5-9(13)6-8-10/h5-8H,4H2,1-3H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KNHUKKLJHYUCFP-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "242.69900" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "242.07097" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCOC(=O)C(C)(C)Oc1ccc(Cl)cc1" xsd:string [Term] id: CHEBI:37537 name: phorbol 13-acetate 12-myristate namespace: chebi_ontology alt_id: CHEBI:745 alt_id: CHEBI:746 def: "A phorbol ester that is phorbol in which the hydroxy groups at the cyclopropane ring juction (position 13) and the adjacent carbon (position 12) have been converted into the corresponding acetate and myristate esters. It is a major active constituent of the seed oil of Croton tiglium. It has been used as a tumour promoting agent for skin carcinogenesis in rodents and is associated with increased cell proliferation of malignant cells. However its function is controversial since a decrease in cell proliferation has also been observed in several cancer cell types." [] subset: 3_STAR synonym: "(1aR,1bS,4aR,7aS,7bS,8R,9R,9aS)-9a-acetoxy-4a,7b-dihydroxy-3-(hydroxymethyl)-1,1,6,8-tetramethyl-5-oxo-1a,1b,4,4a,5,7a,7b,8,9,9a-decahydro-1H-cyclopropa[3,4]benzo[1,2-e]azulen-9-yl tetradecanoate" EXACT IUPAC_NAME [IUPAC] synonym: "12-O-tetradecanoylphorbol 13-acetate" RELATED [KEGG_COMPOUND] synonym: "12-tetradecanoylphorbol 13-acetate" RELATED [KEGG_COMPOUND] synonym: "phorbol 12-myristate 13-acetate" RELATED [KEGG_COMPOUND] synonym: "phorbol 12-tetradecanoate 13-acetate" RELATED [ChemIDplus] synonym: "phorbol-12-myristate-13-acetate" RELATED [ChEBI] synonym: "PMA" RELATED [ChemIDplus] synonym: "tetradecanoylphorbol acetate" RELATED [ChemIDplus] synonym: "TPA" RELATED [ChEBI] xref: Beilstein:2407201 {source="ChemIDplus"} xref: CAS:16561-29-8 {source="ChemIDplus"} xref: CAS:16561-29-8 {source="KEGG COMPOUND"} xref: Chemspider:25977 xref: KEGG:C05151 xref: KEGG:C09199 xref: KNApSAcK:C00003491 xref: LINCS:LSM-25630 xref: LIPID_MAPS_instance:LMPR0104330002 {source="LIPID MAPS"} xref: MetaCyc:CPD-19636 xref: PMCID:PMC6898309 {source="Europe PMC"} xref: PMID:12421969 {source="Europe PMC"} xref: PMID:15721302 {source="Europe PMC"} xref: PMID:15822940 {source="Europe PMC"} xref: PMID:16740769 {source="Europe PMC"} xref: PMID:18541361 {source="Europe PMC"} xref: PMID:20333698 {source="Europe PMC"} xref: PMID:22696070 {source="Europe PMC"} xref: PMID:25649981 {source="Europe PMC"} xref: PMID:25918710 {source="Europe PMC"} xref: PMID:26826276 {source="Europe PMC"} xref: PMID:26894087 {source="Europe PMC"} xref: PMID:27315825 {source="Europe PMC"} xref: PMID:27676154 {source="Europe PMC"} xref: PMID:2866623 {source="Europe PMC"} xref: PMID:29291631 {source="Europe PMC"} xref: PMID:29385060 {source="Europe PMC"} xref: PMID:29538403 {source="Europe PMC"} xref: PMID:29872754 {source="Europe PMC"} xref: PMID:29933732 {source="Europe PMC"} xref: PMID:30075941 {source="Europe PMC"} xref: PMID:30248704 {source="Europe PMC"} xref: PMID:30254419 {source="Europe PMC"} xref: PMID:30663866 {source="Europe PMC"} xref: PMID:31019367 {source="Europe PMC"} xref: PMID:31194000 {source="Europe PMC"} xref: PMID:31256364 {source="Europe PMC"} xref: PMID:31437790 {source="Europe PMC"} xref: PMID:31904021 {source="Europe PMC"} xref: PMID:32140039 {source="Europe PMC"} xref: PMID:33254440 {source="Europe PMC"} xref: PMID:33268675 {source="Europe PMC"} xref: PMID:33291656 {source="Europe PMC"} xref: PMID:34234780 {source="Europe PMC"} xref: PMID:3593207 {source="Europe PMC"} xref: Wikipedia:12-O-Tetradecanoylphorbol-13-acetate is_a: CHEBI:24913 ! isoprenoid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C36H56O8" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C36H56O8/c1-7-8-9-10-11-12-13-14-15-16-17-18-29(39)43-32-24(3)35(42)27(30-33(5,6)36(30,32)44-25(4)38)20-26(22-37)21-34(41)28(35)19-23(2)31(34)40/h19-20,24,27-28,30,32,37,41-42H,7-18,21-22H2,1-6H3/t24-,27+,28-,30-,32-,34-,35-,36-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PHEDXBVPIONUQT-RGYGYFBISA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "616.826" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "616.39752" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C=1[C@]2([C@]3([C@@]([C@H](OC(=O)CCCCCCCCCCCCC)[C@H]([C@@]2([C@]4([C@@](C(=O)C(=C4)C)(CC1CO)O)[H])O)C)(C3(C)C)OC(=O)C)[H])[H]" xsd:string [Term] id: CHEBI:3755 name: clomipramine hydrochloride namespace: chebi_ontology def: "A hydrochloride resulting from the reaction of equimolar amounts of clomipramine and hydrogen chloride. One of the more sedating tricyclic antidepressants, it is used for the treatment of depression as well as obsessive-compulsive disorder and phobias." [] subset: 3_STAR synonym: "3-(3-chloro-10,11-dihydro-5H-dibenzo[b,f]azepin-5-yl)-N,N-dimethylpropan-1-amine hydrochloride" EXACT IUPAC_NAME [IUPAC] synonym: "3-(3-chloro-10,11-dihydro-5H-dibenzo[b,f]azepin-5-yl)-N,N-dimethylpropan-1-aminium chloride" RELATED [IUPAC] synonym: "3-chloroimipramine hydrochloride" RELATED [ChemIDplus] synonym: "Anafranil" RELATED BRAND_NAME [KEGG_DRUG] synonym: "chloroimipramine monohydrochloride" RELATED [ChemIDplus] synonym: "clomipramine HCl" RELATED [ChemIDplus] synonym: "clomipramine monohydrochloride" RELATED [ChEBI] xref: CAS:17321-77-6 {source="ChemIDplus"} xref: CAS:17321-77-6 {source="KEGG DRUG"} xref: ChEMBL:774661 xref: ChemIDplus:17321-77-6 xref: DrugBank:DB01242 xref: KEGG DRUG:17321-77-6 xref: KEGG DRUG:D00811 xref: KEGG:D00811 xref: NCIt:C47458 xref: Reaxys:4168494 {source="Reaxys"} xref: SNOMEDCT:116520006 xref: SNOMEDCT:387027004 xref: VSDB:1812 is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H24Cl2N2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H23ClN2.ClH/c1-21(2)12-5-13-22-18-7-4-3-6-15(18)8-9-16-10-11-17(20)14-19(16)22;/h3-4,6-7,10-11,14H,5,8-9,12-13H2,1-2H3;1H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WIMWMKZEIBHDTH-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "351.31300" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "350.13165" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cl.CN(C)CCCN1c2ccccc2CCc2ccc(Cl)cc12" xsd:string [Term] id: CHEBI:37550 name: sphingosine 1-phosphate namespace: chebi_ontology alt_id: CHEBI:26742 alt_id: CHEBI:9225 def: "A phosphosphingolipid that consists of sphingosine having a phospho group attached at position 1" [] subset: 3_STAR synonym: "(2-amino-3-hydroxy-octadec-4-enoxy)phosphonic acid" RELATED [HMDB] synonym: "(2S,3R,4E)-2-amino-3-hydroxyoctadec-4-en-1-yl dihydrogen phosphate" EXACT IUPAC_NAME [IUPAC] synonym: "(2S,3R,4E)-2-amino-4-octadecene-1,3-diol 1-(dihydrogen phosphate)" RELATED [ChemIDplus] synonym: "C18-Sphingosine 1-phosphate" RELATED [HMDB] synonym: "D-erythro-sphingosine 1-phosphate" RELATED [HMDB] synonym: "S1P" RELATED [ChEBI] synonym: "Sphing-4-enine 1-phosphate" RELATED [KEGG_COMPOUND] synonym: "Sphingosine 1-phosphate" EXACT [KEGG_COMPOUND] synonym: "Sphingosine 1-phosphic acid" RELATED [HMDB] synonym: "sphingosine-1-phosphate" RELATED [ChemIDplus] xref: Beilstein:5877213 {source="Beilstein"} xref: CAS:26993-30-6 {source="ChemIDplus"} xref: CAS:26993-30-6 {source="KEGG COMPOUND"} xref: HMDB:HMDB0000277 xref: KEGG:C06124 xref: LIPID_MAPS_instance:LMSP01050001 {source="LIPID MAPS"} xref: PMID:11278407 {source="Europe PMC"} xref: PMID:11324700 {source="Europe PMC"} xref: PMID:11331099 {source="Europe PMC"} xref: PMID:11418470 {source="Europe PMC"} xref: PMID:11470796 {source="Europe PMC"} xref: PMID:11739995 {source="Europe PMC"} xref: PMID:12039947 {source="Europe PMC"} xref: PMID:12062172 {source="Europe PMC"} xref: PMID:12069819 {source="Europe PMC"} xref: PMID:12069830 {source="Europe PMC"} xref: PMID:12401202 {source="Europe PMC"} xref: PMID:12509810 {source="Europe PMC"} xref: PMID:12586615 {source="Europe PMC"} xref: PMID:12730100 {source="Europe PMC"} xref: PMID:12742827 {source="Europe PMC"} xref: PMID:12746430 {source="Europe PMC"} xref: PMID:12778803 {source="Europe PMC"} xref: PMID:12833634 {source="Europe PMC"} xref: PMID:12963123 {source="Europe PMC"} xref: PMID:12963813 {source="Europe PMC"} xref: PMID:15044318 {source="Europe PMC"} xref: PMID:15143482 {source="Europe PMC"} xref: PMID:15158755 {source="Europe PMC"} xref: PMID:15258919 {source="Europe PMC"} xref: PMID:15292266 {source="Europe PMC"} xref: PMID:15317688 {source="Europe PMC"} xref: PMID:15326035 {source="Europe PMC"} xref: PMID:15354862 {source="Europe PMC"} xref: PMID:15476260 {source="Europe PMC"} xref: PMID:15567060 {source="Europe PMC"} xref: PMID:15696050 {source="Europe PMC"} xref: PMID:15728255 {source="Europe PMC"} xref: PMID:15734735 {source="Europe PMC"} xref: PMID:15761190 {source="Europe PMC"} xref: PMID:15778280 {source="Europe PMC"} xref: PMID:15992170 {source="Europe PMC"} xref: PMID:16046448 {source="Europe PMC"} xref: PMID:16129068 {source="Europe PMC"} xref: PMID:16162874 {source="Europe PMC"} xref: PMID:16243846 {source="Europe PMC"} xref: PMID:16322129 {source="Europe PMC"} xref: PMID:16339142 {source="Europe PMC"} xref: PMID:16434032 {source="Europe PMC"} xref: PMID:16554657 {source="Europe PMC"} xref: PMID:16913663 {source="Europe PMC"} xref: PMID:16940153 {source="Europe PMC"} xref: PMID:16956968 {source="Europe PMC"} xref: PMID:17098744 {source="Europe PMC"} xref: PMID:17158356 {source="Europe PMC"} xref: PMID:17220911 {source="Europe PMC"} xref: PMID:17308123 {source="Europe PMC"} xref: PMID:17361098 {source="Europe PMC"} xref: PMID:17374154 {source="Europe PMC"} xref: PMID:17391120 {source="Europe PMC"} xref: PMID:17409372 {source="Europe PMC"} xref: PMID:17517398 {source="Europe PMC"} xref: PMID:17561264 {source="Europe PMC"} xref: PMID:17904858 {source="Europe PMC"} xref: PMID:18155002 {source="Europe PMC"} xref: PMID:18387885 {source="Europe PMC"} xref: PMID:18502612 {source="Europe PMC"} xref: PMID:18541717 {source="Europe PMC"} xref: PMID:18787560 {source="Europe PMC"} xref: PMID:18973762 {source="Europe PMC"} xref: PMID:19081473 {source="Europe PMC"} xref: PMID:19082500 {source="Europe PMC"} xref: PMID:19268560 {source="Europe PMC"} xref: PMID:19293152 {source="Europe PMC"} xref: PMID:19350109 {source="Europe PMC"} xref: PMID:19423865 {source="Europe PMC"} xref: PMID:19556602 {source="Europe PMC"} xref: PMID:19620297 {source="Europe PMC"} xref: PMID:19636535 {source="Europe PMC"} xref: PMID:19662499 {source="Europe PMC"} xref: PMID:19808013 {source="Europe PMC"} xref: PMID:19815502 {source="Europe PMC"} xref: Reaxys:5877213 {source="Reaxys"} xref: Wikipedia:Sphingosine-1-phosphate is_a: CHEBI:16247 ! phospholipid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H38NO5P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H38NO5P/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-18(20)17(19)16-24-25(21,22)23/h14-15,17-18,20H,2-13,16,19H2,1H3,(H2,21,22,23)/b15-14+/t17-,18+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DUYSYHSSBDVJSM-KRWOKUGFSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "379.47180" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "379.24876" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCCCCCCC\\C=C\\[C@@H](O)[C@@H](N)COP(O)(O)=O" xsd:string [Term] id: CHEBI:37585 name: sodium dihydrogenphosphate namespace: chebi_ontology subset: 3_STAR synonym: "monosodium phosphate" RELATED [ChemIDplus] synonym: "NaH2PO4" RELATED [IUPAC] synonym: "phosphoric acid, monosodium salt" RELATED [ChemIDplus] synonym: "sodium dihydrogen phosphate" RELATED [NIST_Chemistry_WebBook] synonym: "sodium dihydrogenphosphate" EXACT IUPAC_NAME [IUPAC] synonym: "sodium phosphate monobasic anhydrous" RELATED [ChemIDplus] synonym: "sodium phosphate, monobasic" RELATED [ChemIDplus] xref: CAS:7558-80-7 {source="ChemIDplus"} xref: CAS:7558-80-7 {source="NIST Chemistry WebBook"} xref: Gmelin:12533 {source="Gmelin"} is_a: CHEBI:26020 ! phosphate property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "H2NaO4P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/Na.H3O4P/c;1-5(2,3)4/h;(H3,1,2,3,4)/q+1;/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "AJPJDKMHJJGVTQ-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "119.97701" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "119.95884" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Na+].OP(O)([O-])=O" xsd:string [Term] id: CHEBI:3764 name: clotrimazole namespace: chebi_ontology def: "A member of the class of imidazoles that is 1H-imidazole in which the hydrogen attached to a nitrogen is replaced by a monochlorotrityl group." [] subset: 3_STAR synonym: "1-((2-Chlorophenyl)diphenylmethyl)-1H-imidazole" RELATED [ChemIDplus] synonym: "1-(alpha-(2-Chlorophenyl)benzhydryl)imidazole" RELATED [NIST_Chemistry_WebBook] synonym: "1-(o-Chloro-alpha,alpha-diphenylbenzyl)imidazole" RELATED [NIST_Chemistry_WebBook] synonym: "1-(o-Chlorotrityl)imidazole" RELATED [ChemIDplus] synonym: "1-[(2-chlorophenyl)(diphenyl)methyl]-1H-imidazole" EXACT IUPAC_NAME [IUPAC] synonym: "Clotrimazole" EXACT [KEGG_DRUG] synonym: "Clotrimazole" EXACT [KEGG_COMPOUND] synonym: "Lotrimin (TN)" RELATED [KEGG_DRUG] synonym: "Mycelex (TN)" RELATED [KEGG_DRUG] xref: Beilstein:622318 {source="Beilstein"} xref: CAS:23593-75-1 {source="NIST Chemistry WebBook"} xref: CAS:23593-75-1 {source="ChemIDplus"} xref: CAS:23593-75-1 {source="KEGG COMPOUND"} xref: Drug_Central:719 {source="DrugCentral"} xref: DrugBank:DB00257 xref: HMDB:HMDB0001922 xref: KEGG:C06922 xref: KEGG:D00282 xref: LINCS:LSM-5341 xref: MeSH:D003022 xref: NCIt:C381 xref: PDBeChem:CL6 xref: PMID:18728240 {source="Europe PMC"} xref: PMID:24892421 {source="Europe PMC"} xref: Reaxys:622318 {source="Reaxys"} xref: SNOMEDCT:387325003 xref: SNOMEDCT:5797005 xref: Wikipedia:Clotrimazole is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:24127 ! fungicide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H17ClN2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C22H17ClN2/c23-21-14-8-7-13-20(21)22(25-16-15-24-17-25,18-9-3-1-4-10-18)19-11-5-2-6-12-19/h1-17H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VNFPBHJOKIVQEB-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "344.83700" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "344.10803" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Clc1ccccc1C(c1ccccc1)(c1ccccc1)n1ccnc1" xsd:string [Term] id: CHEBI:3766 name: clozapine namespace: chebi_ontology def: "A benzodiazepine that is 5H-dibenzo[b,e][1,4]diazepine substituted by a chloro group at position 8 and a 4-methylpiperazin-1-yl group at position 11. It is a second generation antipsychotic used in the treatment of psychiatric disorders like schizophrenia." [] subset: 3_STAR synonym: "8-chloro-11-(4-methylpiperazin-1-yl)-5H-dibenzo[b,e][1,4]diazepine" EXACT IUPAC_NAME [IUPAC] synonym: "Clozapin" RELATED [DrugBank] synonym: "clozapina" RELATED INN [ChEBI] synonym: "Clozapine" EXACT [KEGG_COMPOUND] synonym: "clozapine" RELATED INN [ChEBI] synonym: "clozapinum" RELATED INN [ChEBI] xref: Beilstein:0764984 {source="Beilstein"} xref: CAS:5786-21-0 {source="ChemIDplus"} xref: ChEMBL:102261 xref: ChemIDplus:5786-21-0 xref: Drug_Central:722 {source="DrugCentral"} xref: DrugBank:DB00363 xref: HMDB:HMDB0014507 xref: KEGG COMPOUND:C06924 xref: KEGG DRUG:D00283 xref: KEGG:C06924 xref: KEGG:D00283 xref: MeSH:D003024 xref: NCIt:C28936 xref: Patent:FR1334944 xref: Patent:NL293201 xref: Patent:US3539573 xref: PMID:18690109 {source="Europe PMC"} xref: PMID:18766167 {source="Europe PMC"} xref: PMID:20825390 {source="Europe PMC"} xref: PMID:24219174 {source="Europe PMC"} xref: Reaxys:764984 {source="Reaxys"} xref: SNOMEDCT:387568001 xref: SNOMEDCT:96221003 xref: Wikipedia:Clozapine is_a: CHEBI:22720 ! benzodiazepine relationship: has_role CHEBI:35476 ! antipsychotic agent relationship: has_role CHEBI:35476 ! antipsychotic agent relationship: has_role CHEBI:37887 ! adrenergic antagonist relationship: has_role CHEBI:37887 ! adrenergic antagonist relationship: has_role CHEBI:37956 ! histamine antagonist relationship: has_role CHEBI:37956 ! histamine antagonist relationship: has_role CHEBI:48279 ! serotonergic antagonist relationship: has_role CHEBI:48279 ! serotonergic antagonist relationship: has_role CHEBI:48561 ! dopaminergic antagonist relationship: has_role CHEBI:48561 ! dopaminergic antagonist relationship: has_role CHEBI:48876 ! muscarinic antagonist relationship: has_role CHEBI:48876 ! muscarinic antagonist property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H19ClN4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H19ClN4/c1-22-8-10-23(11-9-22)18-14-4-2-3-5-15(14)20-16-7-6-13(19)12-17(16)21-18/h2-7,12,20H,8-11H2,1H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QZUDBNBUXVUHMW-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "326.824" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "326.12982" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "N1=C(C2=CC=CC=C2NC3=CC=C(C=C13)Cl)N4CCN(CC4)C" xsd:string [Term] id: CHEBI:37671 name: (1->3)-beta-D-glucan namespace: chebi_ontology alt_id: CHEBI:10800 alt_id: CHEBI:10802 alt_id: CHEBI:18922 alt_id: CHEBI:530 alt_id: CHEBI:60750 def: "A beta-D-glucan in which the glucose units are connected by (1->3) linkages." [] subset: 3_STAR synonym: "(1,3-beta-D-Glucosyl)n" RELATED [KEGG_COMPOUND] synonym: "(1,3-beta-D-glucosyl)n" RELATED [IUBMB] synonym: "(1,3-beta-D-glucosyl)n" RELATED [UniProt] synonym: "(1,3-beta-D-Glucosyl)n+1" RELATED [KEGG_COMPOUND] synonym: "(1,3-beta-D-Glucosyl)n-1" RELATED [KEGG_COMPOUND] synonym: "(1->3)-beta-D-glucopyranan" EXACT IUPAC_NAME [IUPAC] synonym: "1,3-beta-D-Glucan" RELATED [KEGG_COMPOUND] synonym: "1,3-beta-Glucan" RELATED [KEGG_COMPOUND] synonym: "beta-(1,3)-glucan" RELATED [ChEBI] synonym: "beta-1,3-glucan" RELATED [ChEBI] synonym: "callose" RELATED [ChEBI] synonym: "curdlan" RELATED [ChEBI] synonym: "zymosan" RELATED [ChEBI] xref: KEGG COMPOUND:C00965 "KEGG COMPOUND" xref: KEGG:C00965 xref: KEGG:G10477 xref: MeSH:C038459 xref: MeSH:C048306 xref: MeSH:D015054 xref: PMID:27562783 {source="Europe PMC"} is_a: CHEBI:18154 ! polysaccharide relationship: has_role EFO:0004367 ! induces sterile inflammation property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "(C6H10O5)n.H2O" xsd:string [Term] id: CHEBI:37684 name: mannose namespace: chebi_ontology alt_id: CHEBI:14575 alt_id: CHEBI:33930 def: "An aldohexose that is the C-2 epimer of glucose." [] subset: 3_STAR synonym: "Man" RELATED [JCBN] synonym: "manno-hexose" EXACT IUPAC_NAME [IUPAC] synonym: "mannose" EXACT IUPAC_NAME [IUPAC] xref: MeSH:D008358 xref: NCIt:C68483 xref: PMID:16180318 {source="Europe PMC"} xref: PMID:24407290 {source="Europe PMC"} xref: SNOMEDCT:63089006 is_a: CHEBI:16646 ! carbohydrate property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H12O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "180.156" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "180.06339" xsd:string [Term] id: CHEBI:37699 name: protein kinase inhibitor namespace: chebi_ontology def: "An EC 2.7.* (P-containing group transferase) inhibitor that interferes with the action of protein kinases." [] subset: 3_STAR synonym: "protein kinase inhibitors" RELATED [ChEBI] xref: MeSH:D047428 xref: NCIt:C1404 xref: SNOMEDCT:426265004 xref: SNOMEDCT:427510007 is_a: CHEBI:23924 ! enzyme inhibitor [Term] id: CHEBI:37700 name: EC 2.7.11.13 (protein kinase C) inhibitor namespace: chebi_ontology def: "An EC 2.7.11.* (protein-serine/threonine kinase) inhibitor that interferes with the action of protein kinase C (EC 2.7.11.13)." [] subset: 3_STAR synonym: "ATP:protein phosphotransferase (diacylglycerol-dependent) inhibitor" RELATED [ChEBI] synonym: "ATP:protein phosphotransferase (diacylglycerol-dependent) inhibitors" RELATED [ChEBI] synonym: "calcium-dependent protein kinase C inhibitor" RELATED [ChEBI] synonym: "calcium-dependent protein kinase C inhibitors" RELATED [ChEBI] synonym: "calcium-independent protein kinase C inhibitor" RELATED [ChEBI] synonym: "calcium-independent protein kinase C inhibitors" RELATED [ChEBI] synonym: "calcium/phospholipid dependent protein kinase inhibitor" RELATED [ChEBI] synonym: "calcium/phospholipid dependent protein kinase inhibitors" RELATED [ChEBI] synonym: "cPKC inhibitor" RELATED [ChEBI] synonym: "cPKC inhibitors" RELATED [ChEBI] synonym: "cPKCalpha inhibitor" RELATED [ChEBI] synonym: "cPKCalpha inhibitors" RELATED [ChEBI] synonym: "cPKCbeta inhibitor" RELATED [ChEBI] synonym: "cPKCbeta inhibitors" RELATED [ChEBI] synonym: "cPKCgamma inhibitor" RELATED [ChEBI] synonym: "cPKCgamma inhibitors" RELATED [ChEBI] synonym: "EC 2.7.11.13 (protein kinase C) inhibitors" RELATED [ChEBI] synonym: "EC 2.7.11.13 inhibitor" RELATED [ChEBI] synonym: "EC 2.7.11.13 inhibitors" RELATED [ChEBI] synonym: "nPKC inhibitor" RELATED [ChEBI] synonym: "nPKC inhibitors" RELATED [ChEBI] synonym: "nPKCdelta inhibitor" RELATED [ChEBI] synonym: "nPKCdelta inhibitors" RELATED [ChEBI] synonym: "nPKCepsilon inhibitor" RELATED [ChEBI] synonym: "nPKCepsilon inhibitors" RELATED [ChEBI] synonym: "nPKCeta inhibitor" RELATED [ChEBI] synonym: "nPKCeta inhibitors" RELATED [ChEBI] synonym: "nPKCtheta inhibitor" RELATED [ChEBI] synonym: "nPKCtheta inhibitors" RELATED [ChEBI] synonym: "PKC inhibitor" RELATED [ChEBI] synonym: "PKC inhibitors" RELATED [ChEBI] synonym: "Pkc1p inhibitor" RELATED [ChEBI] synonym: "Pkc1p inhibitors" RELATED [ChEBI] synonym: "PKCalpha inhibitor" RELATED [ChEBI] synonym: "PKCalpha inhibitors" RELATED [ChEBI] synonym: "PKCbeta inhibitor" RELATED [ChEBI] synonym: "PKCbeta inhibitors" RELATED [ChEBI] synonym: "PKCdelta inhibitor" RELATED [ChEBI] synonym: "PKCdelta inhibitors" RELATED [ChEBI] synonym: "PKCepsilon inhibitor" RELATED [ChEBI] synonym: "PKCepsilon inhibitors" RELATED [ChEBI] synonym: "PKCgamma inhibitor" RELATED [ChEBI] synonym: "PKCgamma inhibitors" RELATED [ChEBI] synonym: "PKCzeta inhibitor" RELATED [ChEBI] synonym: "PKCzeta inhibitors" RELATED [ChEBI] synonym: "PKN3 inhibitor" RELATED [ChEBI] synonym: "PKN3 inhibitors" RELATED [ChEBI] synonym: "protein kinase C (EC 2.7.11.13) inhibitor" RELATED [ChEBI] synonym: "protein kinase C (EC 2.7.11.13) inhibitors" RELATED [ChEBI] synonym: "protein kinase C inhibitor" RELATED [ChEBI] synonym: "protein kinase C inhibitors" RELATED [ChEBI] synonym: "protein kinase Cepsilon inhibitor" RELATED [ChEBI] synonym: "protein kinase Cepsilon inhibitors" RELATED [ChEBI] synonym: "STK24 inhibitor" RELATED [ChEBI] synonym: "STK24 inhibitors" RELATED [ChEBI] xref: NCIt:C2089 is_a: CHEBI:37699 ! protein kinase inhibitor [Term] id: CHEBI:37733 name: EC 3.1.1.8 (cholinesterase) inhibitor namespace: chebi_ontology def: "An EC 3.1.1.* (carboxylic ester hydrolase) inhibitor that interferes with the action of cholinesterase (EC 3.1.1.8)." [] subset: 3_STAR synonym: "anticholineesterase inhibitor" RELATED [ChEBI] synonym: "anticholineesterase inhibitors" RELATED [ChEBI] synonym: "anticholinesterase" RELATED [ChEBI] synonym: "anticholinesterases" RELATED [ChEBI] synonym: "BChE inhibitor" RELATED [ChEBI] synonym: "BChE inhibitors" RELATED [ChEBI] synonym: "benzoylcholinesterase inhibitor" RELATED [ChEBI] synonym: "benzoylcholinesterase inhibitors" RELATED [ChEBI] synonym: "BtChoEase inhibitor" RELATED [ChEBI] synonym: "BtChoEase inhibitors" RELATED [ChEBI] synonym: "butyrylcholine esterase inhibitor" RELATED [ChEBI] synonym: "butyrylcholine esterase inhibitors" RELATED [ChEBI] synonym: "butyrylcholinesterase inhibitor" RELATED [ChEBI] synonym: "butyrylcholinesterase inhibitors" RELATED [ChEBI] synonym: "choline esterase II (unspecific) inhibitor" RELATED [ChEBI] synonym: "choline esterase II (unspecific) inhibitors" RELATED [ChEBI] synonym: "choline esterase inhibitor" RELATED [ChEBI] synonym: "choline esterase inhibitors" RELATED [ChEBI] synonym: "cholinesterase (EC 3.1.1.8) inhibitor" RELATED [ChEBI] synonym: "cholinesterase (EC 3.1.1.8) inhibitors" RELATED [ChEBI] synonym: "cholinesterase inhibitor" RELATED [ChEBI] synonym: "EC 3.1.1.8 (cholinesterase) inhibitors" RELATED [ChEBI] synonym: "EC 3.1.1.8 inhibitor" RELATED [ChEBI] synonym: "EC 3.1.1.8 inhibitors" RELATED [ChEBI] synonym: "non-specific cholinesterase inhibitor" RELATED [ChEBI] synonym: "non-specific cholinesterase inhibitors" RELATED [ChEBI] synonym: "propionylcholinesterase inhibitor" RELATED [ChEBI] synonym: "propionylcholinesterase inhibitors" RELATED [ChEBI] synonym: "pseudocholinesterase inhibitor" RELATED [ChEBI] synonym: "pseudocholinesterase inhibitors" RELATED [ChEBI] is_a: CHEBI:23924 ! enzyme inhibitor [Term] id: CHEBI:37758 name: iodoform namespace: chebi_ontology alt_id: CHEBI:29364 alt_id: CHEBI:31706 subset: 3_STAR synonym: "carbon triiodide" RELATED [ChemIDplus] synonym: "CHI3" RELATED [IUPAC] synonym: "iodoform" EXACT IUPAC_NAME [IUPAC] synonym: "Jodoform" RELATED [NIST_Chemistry_WebBook] synonym: "triiodomethane" RELATED [NIST_Chemistry_WebBook] xref: CAS:75-47-8 {source="NIST Chemistry WebBook"} xref: CAS:75-47-8 {source="ChemIDplus"} xref: Drug_Central:4579 {source="DrugCentral"} xref: KEGG:D01910 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "CHI3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/CHI3/c2-1(3)4/h1H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OKJPEAGHQZHRQV-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "393.73205" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "393.72124" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H]C(I)(I)I" xsd:string [Term] id: CHEBI:37812 name: dialkylglycerol namespace: chebi_ontology subset: 3_STAR synonym: "dialkylglycerols" RELATED [ChEBI] is_a: CHEBI:18059 ! lipid [Term] id: CHEBI:37845 name: growth hormone namespace: chebi_ontology def: "A hormone that specifically regulates growth." [] subset: 3_STAR synonym: "GH" RELATED [KEGG_COMPOUND] synonym: "growth hormones" RELATED [ChEBI] synonym: "Somatotropin" RELATED [KEGG_COMPOUND] synonym: "Wachstumshormon" RELATED [ChEBI] xref: CAS:9002-72-6 {source="KEGG COMPOUND"} xref: KEGG:C18181 xref: MeSH:D013006 is_a: CHEBI:24621 ! hormone is_a: EFO:0001824 ! hormone role [Term] id: CHEBI:37848 name: plant hormone namespace: chebi_ontology alt_id: CHEBI:26158 def: "A plant growth regulator that modulates the formation of stems, leaves and flowers, as well as the development and ripening of fruit. The term includes endogenous and non-endogenous compounds (e.g. active compounds produced by bacteria on the leaf surface) as well as semi-synthetic and fully synthetic compounds." [] subset: 3_STAR synonym: "phytohormone" RELATED [ChEBI] synonym: "phytohormones" RELATED [ChEBI] synonym: "plant growth factor" RELATED [ChEBI] synonym: "plant growth factors" RELATED [ChEBI] synonym: "plant growth hormone" RELATED [ChEBI] synonym: "plant growth hormones" RELATED [ChEBI] synonym: "plant hormones" RELATED [ChEBI] xref: Wikipedia:Phytohormone is_a: CHEBI:24621 ! hormone is_a: CHEBI:26155 ! plant growth regulator [Term] id: CHEBI:37887 name: adrenergic antagonist namespace: chebi_ontology def: "An agent that binds to but does not activate adrenergic receptors thereby blocking the actions of endogenous or exogenous adrenergic agonists." [] subset: 3_STAR synonym: "adrenergic antagonists" RELATED [ChEBI] synonym: "adrenergic blockaders" RELATED [ChEBI] synonym: "adrenergic blocker" RELATED [ChEBI] synonym: "adrenergic blockers" RELATED [ChEBI] synonym: "adrenergic receptor blockaders" RELATED [ChEBI] synonym: "adrenoceptor antagonists" RELATED [IUPHAR] xref: MeSH:D018674 xref: NCIt:C72900 is_a: CHEBI:23888 ! drug is_a: CHEBI:24432 ! biological role is_a: EFO:0001899 ! drug role relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:37890 name: alpha-adrenergic antagonist namespace: chebi_ontology def: "An agent that binds to but does not activate alpha-adrenergic receptors thereby blocking the actions of endogenous or exogenous alpha-adrenergic agonists. alpha-Adrenergic antagonists are used in the treatment of hypertension, vasospasm, peripheral vascular disease, shock, and pheochromocytoma." [] subset: 3_STAR synonym: "alpha-adrenergic antagonists" RELATED [ChEBI] synonym: "alpha-adrenergic blocker" RELATED [ChEBI] synonym: "alpha-adrenergic blockers" RELATED [ChEBI] synonym: "alpha-adrenergic receptor blockaders" RELATED [ChEBI] synonym: "alpha-adrenoceptor antagonists" RELATED [IUPHAR] xref: NCIt:C29713 is_a: CHEBI:37887 ! adrenergic antagonist [Term] id: CHEBI:37930 name: phenothiazine antipsychotic drug namespace: chebi_ontology subset: 3_STAR synonym: "phenothiazine antipsychotic drugs" RELATED [ChEBI] synonym: "phenothiazine antipsychotics" RELATED [ChEBI] synonym: "phenothiazine neuroleptics" RELATED [ChEBI] is_a: CHEBI:35476 ! antipsychotic agent [Term] id: CHEBI:37956 name: histamine antagonist namespace: chebi_ontology def: "Histamine antagonists are the drugs that bind to but do not activate histamine receptors, thereby blocking the actions of histamine or histamine agonists." [] subset: 3_STAR synonym: "antihistamine" RELATED [ChEBI] synonym: "antihistamines" RELATED [ChEBI] synonym: "antihistaminico" RELATED [ChEBI] synonym: "antihistaminics" RELATED [ChEBI] synonym: "histamine receptor blocker" RELATED [ChEBI] synonym: "histamine receptor blockers" RELATED [ChEBI] xref: PMID:22035879 {source="Europe PMC"} xref: SNOMEDCT:372806008 xref: SNOMEDCT:6425004 xref: Wikipedia:Antihistamines is_a: CHEBI:23888 ! drug is_a: CHEBI:24432 ! biological role is_a: EFO:0001899 ! drug role [Term] id: CHEBI:37960 name: cyanine dye namespace: chebi_ontology def: "Cyanine dyes are synthetic dyes with the general formula R2N[CH=CH]nCH=N(+)R2 <-> R2N(+)=CH[CH=CH]nNR2 (n is a small number) in which the nitrogen and part of the conjugated chain usually form part of a heterocyclic system, such as imidazole, pyridine, pyrrole, quinoline and thiazole." [] subset: 3_STAR synonym: "cyanine dyes" EXACT IUPAC_NAME [IUPAC] synonym: "Cyaninfarbstoff" RELATED [ChEBI] synonym: "Zyaninfarbstoff" RELATED [ChEBI] is_a: BFO:0000023 ! role is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:37987 name: Cy3 dye namespace: chebi_ontology subset: 3_STAR synonym: "Cy3" RELATED [ChEBI] synonym: "Cy3 dyes" RELATED [ChEBI] synonym: "cyanine 3 dye" RELATED [ChEBI] synonym: "cyanine 3 dyes" RELATED [ChEBI] synonym: "cyanine dye 3" RELATED [ChEBI] synonym: "cyanine3 dye" RELATED [ChEBI] synonym: "cyanine3 dyes" RELATED [ChEBI] is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:37960 ! cyanine dye property_value: http://purl.obolibrary.org/obo/chebi/charge "+1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H15N2R2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "271.33580" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "271.12352" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H]C(=CC([H])=C1Cc2ccccc2N1[*])C1=[N+]([*])c2ccccc2C1" xsd:string [Term] id: CHEBI:37989 name: Cy5 dye namespace: chebi_ontology subset: 3_STAR synonym: "Cy5" RELATED [ChEBI] synonym: "Cy5 dyes" RELATED [ChEBI] synonym: "cyanine 5 dye" RELATED [ChEBI] synonym: "cyanine 5 dyes" RELATED [ChEBI] synonym: "cyanine dye 5" RELATED [ChEBI] synonym: "cyanine5 dye" RELATED [ChEBI] synonym: "cyanine5 dyes" RELATED [ChEBI] is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:37960 ! cyanine dye property_value: http://purl.obolibrary.org/obo/chebi/charge "+1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C21H17N2R2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "297.37310" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "297.13917" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H]C(C=C([H])C1=[N+]([*])c2ccccc2C1)=CC([H])=C1Cc2ccccc2N1[*]" xsd:string [Term] id: CHEBI:379896 name: 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one namespace: chebi_ontology alt_id: CHEBI:45313 alt_id: CHEBI:59645 def: "A synthetic non-aromatisable androgen and anabolic steroid. It binds strongly to the androgen receptor and has therefore also been used as an affinity label for this receptor in the prostate and in prostatic tumors." [] subset: 3_STAR synonym: "17-beta-Hydroxy-17-methylestra-4,9,11-trien-3-one" RELATED [KEGG_COMPOUND] synonym: "17-methyloestra-4,9,11-trien-3-one,17beta-ol" RELATED [ChEBI] synonym: "17alpha-Methyltrienolone" RELATED [ChemIDplus] synonym: "17beta-hydroxy-17-methylestra-4,9,11-trien-3-one" EXACT IUPAC_NAME [IUPAC] synonym: "Methyltrienolone" RELATED [ChemIDplus] synonym: "metribolona" RELATED INN [ChemIDplus] synonym: "Metribolone" RELATED [KEGG_COMPOUND] synonym: "metribolone" RELATED INN [ChemIDplus] synonym: "metribolonum" RELATED INN [ChemIDplus] synonym: "R1881" RELATED [ChEBI] synonym: "R1881 (synthetic androgen)" RELATED [ChEBI] xref: Beilstein:2626053 {source="Beilstein"} xref: CAS:965-93-5 {source="ChemIDplus"} xref: CAS:965-93-5 {source="KEGG COMPOUND"} xref: DrugBank:DB02998 xref: KEGG:C14257 xref: MeSH:D015741 xref: NCIt:C50378 xref: Patent:NL6401555 xref: PDBeChem:R18 xref: PMID:17077481 {source="Europe PMC"} is_a: CHEBI:26764 ! steroid hormone relationship: has_role EFO:0001824 ! hormone role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H24O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H24O2/c1-18-9-7-15-14-6-4-13(20)11-12(14)3-5-16(15)17(18)8-10-19(18,2)21/h7,9,11,16-17,21H,3-6,8,10H2,1-2H3/t16-,17+,18+,19+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CCCIJQPRIXGQOE-XWSJACJDSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "284.39270" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "284.17763" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12CCC3=CC(=O)CCC3=C1C=C[C@@]1(C)[C@@]2([H])CC[C@]1(C)O" xsd:string [Term] id: CHEBI:38000 name: uniconazole namespace: chebi_ontology def: "A racemate comprising equimolar amounts of uniconazole-P and its enantiomer, (R)-uniconazole." [] subset: 3_STAR synonym: "(E)-(+-)-beta-((4-chlorophenyl)methylene)-alpha-(1,1-dimethylethyl)-1H-1,2,4-triazole-1-ethanol" RELATED [ChemIDplus] synonym: "rac-(1E)-1-(4-chlorophenyl)-4,4-dimethyl-2-(1H-1,2,4-triazol-1-yl)pent-1-en-3-ol" EXACT IUPAC_NAME [IUPAC] synonym: "Uniconazole" EXACT [ChemIDplus] xref: Beilstein:7517240 {source="Beilstein"} xref: CAS:83657-22-1 {source="NIST Chemistry WebBook"} xref: MeSH:C511205 is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:35219 ! plant growth retardant [Term] id: CHEBI:38068 name: antimalarial namespace: chebi_ontology def: "A drug used in the treatment of malaria. Antimalarials are usually classified on the basis of their action against Plasmodia at different stages in their life cycle in the human." [] subset: 3_STAR synonym: "antimalarials" RELATED [ChEBI] is_a: CHEBI:23888 ! drug is_a: CHEBI:33281 ! antimicrobial agent is_a: EFO:0001899 ! drug role [Term] id: CHEBI:38070 name: anti-arrhythmia drug namespace: chebi_ontology def: "A drug used for the treatment or prevention of cardiac arrhythmias. Anti-arrhythmia drugs may affect the polarisation-repolarisation phase of the action potential, its excitability or refractoriness, or impulse conduction or membrane responsiveness within cardiac fibres." [] subset: 3_STAR synonym: "anti-arrhythmia agent" RELATED [ChEBI] synonym: "antiarrhythmic agent" RELATED [ChEBI] is_a: CHEBI:35554 ! cardiovascular drug [Term] id: CHEBI:38147 name: cardiotonic drug namespace: chebi_ontology def: "A drug that has a strengthening effect on the heart or that can increase cardiac output." [] subset: 3_STAR synonym: "cardiotonic drugs" RELATED [ChEBI] xref: SNOMEDCT:69440003 is_a: CHEBI:35554 ! cardiovascular drug [Term] id: CHEBI:38211 name: potassium bromate namespace: chebi_ontology subset: 3_STAR synonym: "Bromic acid, potassium salt" RELATED [ChemIDplus] synonym: "E924" RELATED [ChEBI] synonym: "potassium bromate" EXACT IUPAC_NAME [IUPAC] synonym: "potassium trioxidobromate(1-)" EXACT IUPAC_NAME [IUPAC] synonym: "potassium trioxobromate" RELATED [NIST_Chemistry_WebBook] xref: CAS:7758-01-2 {source="KEGG COMPOUND"} xref: CAS:7758-01-2 {source="ChemIDplus"} xref: Gmelin:15380 {source="Gmelin"} xref: KEGG:C19295 xref: MeSH:C019536 is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "BrKO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "BrO3.K" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/BrHO3.K/c2-1(3)4;/h(H,2,3,4);/q;+1/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OCATYIAKPYKMPG-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "167.00050" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "165.86679" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[K+].[O-]Br(=O)=O" xsd:string [Term] id: CHEBI:38215 name: calcium channel blocker namespace: chebi_ontology def: "One of a class of drugs that acts by selective inhibition of calcium influx through cell membranes or on the release and binding of calcium in intracellular pools." [] subset: 3_STAR synonym: "calcium channel antagonist" RELATED [ChEBI] synonym: "calcium channel antagonists" RELATED [ChEBI] synonym: "calcium channel blockers" RELATED [ChEBI] xref: MeSH:D002121 xref: NCIt:C333 xref: SNOMEDCT:373304005 is_a: CHEBI:24432 ! biological role is_a: EFO:0001899 ! drug role relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:38462 name: EC 3.1.1.7 (acetylcholinesterase) inhibitor namespace: chebi_ontology def: "An EC 3.1.1.* (carboxylic ester hydrolase) inhibitor that interferes with the action of enzyme acetylcholinesterase (EC 3.1.1.7), which helps breaking down of acetylcholine into choline and acetic acid." [] subset: 3_STAR synonym: "AcCholE inhibitor" RELATED [ChEBI] synonym: "AcCholE inhibitors" RELATED [ChEBI] synonym: "acetyl.beta-methylcholinesterase inhibitor" RELATED [ChEBI] synonym: "acetyl.beta-methylcholinesterase inhibitors" RELATED [ChEBI] synonym: "acetylcholine acetylhydrolase inhibitor" RELATED [ChEBI] synonym: "acetylcholine acetylhydrolase inhibitors" RELATED [ChEBI] synonym: "acetylcholine esterase inhibitor" RELATED [ChEBI] synonym: "acetylcholine hydrolase inhibitor" RELATED [ChEBI] synonym: "acetylcholine hydrolase inhibitors" RELATED [ChEBI] synonym: "acetylcholinesterase (EC 3.1.1.7) inhibitor" RELATED [ChEBI] synonym: "acetylcholinesterase (EC 3.1.1.7) inhibitors" RELATED [ChEBI] synonym: "acetylcholinesterase inhibitor" RELATED [ChEBI] synonym: "acetylcholinesterase inhibitors" RELATED [ChEBI] synonym: "acetylthiocholinesterase inhibitor" RELATED [ChEBI] synonym: "acetylthiocholinesterase inhibitors" RELATED [ChEBI] synonym: "AChEI" RELATED [ChEBI] synonym: "choline esterase I inhibitor" RELATED [ChEBI] synonym: "choline esterase I inhibitors" RELATED [ChEBI] synonym: "cholinesterase inhibitor" RELATED [ChEBI] synonym: "cholinesterase inhibitors" RELATED [ChEBI] synonym: "EC 3.1.1.7 (acetylcholinesterase) inhibitors" RELATED [ChEBI] synonym: "EC 3.1.1.7 inhibitor" RELATED [ChEBI] synonym: "EC 3.1.1.7 inhibitors" RELATED [ChEBI] synonym: "true cholinesterase inhibitor" RELATED [ChEBI] synonym: "true cholinesterase inhibitors" RELATED [ChEBI] xref: NCIt:C47792 xref: Wikipedia:Acetylcholinesterase_inhibitor is_a: CHEBI:23924 ! enzyme inhibitor [Term] id: CHEBI:38472 name: acetonitrile namespace: chebi_ontology alt_id: CHEBI:22185 alt_id: CHEBI:30972 alt_id: CHEBI:41432 def: "A nitrile that is hydrogen cyanide in which the hydrogen has been replaced by a methyl group." [] subset: 3_STAR synonym: "ACETONITRILE" EXACT [PDBeChem] synonym: "acetonitrile" EXACT IUPAC_NAME [IUPAC] synonym: "CH3-C#N" RELATED [IUPAC] synonym: "cyanomethane" RELATED [NIST_Chemistry_WebBook] synonym: "ethanenitrile" RELATED [NIST_Chemistry_WebBook] synonym: "MeCN" RELATED [IUPAC] synonym: "methyl cyanide" RELATED [IUPAC] synonym: "NCMe" RELATED [ChEBI] xref: Beilstein:741857 {source="Beilstein"} xref: CAS:75-05-8 {source="ChemIDplus"} xref: CAS:75-05-8 {source="NIST Chemistry WebBook"} xref: Gmelin:895 {source="Gmelin"} xref: PDBeChem:CCN xref: PMID:17347819 {source="Europe PMC"} xref: PMID:19100763 {source="Europe PMC"} xref: PMID:20370615 {source="Europe PMC"} xref: PMID:985423 {source="Europe PMC"} xref: PPDB:1349 xref: Reaxys:741857 {source="Reaxys"} xref: Wikipedia:Acetonitrile is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C2H3N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C2H3N/c1-2-3/h1H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WEVYAHXRMPXWCK-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "41.05196" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "41.02655" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC#N" xsd:string [Term] id: CHEBI:38498 name: mitochondrial NADH:ubiquinone reductase inhibitor namespace: chebi_ontology subset: 3_STAR synonym: "mitochondrial complex I inhibitor" RELATED [ChEBI] synonym: "mitochondrial complex I inhibitors" RELATED [ChEBI] synonym: "mitochondrial NADH dehydrogenase inhibitor" RELATED [ChEBI] is_a: CHEBI:25355 ! mitochondrial respiratory-chain inhibitor [Term] id: CHEBI:38545 name: rosuvastatin namespace: chebi_ontology def: "A dihydroxy monocarboxylic acid that is (6E)-7-{4-(4-fluorophenyl)-2-[methyl(methylsulfonyl)amino]-6-(propan-2-yl)pyrimidin-5-yl} hept-6-enoic acid carrying two hydroxy substituents at positions 3 and 5 (the 3R,5S-diastereomer)." [] subset: 3_STAR synonym: "(3R,5S,6E)-7-(4-(4-fluorophenyl)-6-(1-methylethyl)-2-(ethyl(methylsulfonyl)amino)-5-pyrimidinyl)-3,5-dihydroxy-6-heptenoic acid" RELATED [ChemIDplus] synonym: "(3R,5S,6E)-7-{4-(4-fluorophenyl)-2-[methyl(methylsulfonyl)amino]-6-(propan-2-yl)pyrimidin-5-yl}-3,5-dihydroxyhept-6-enoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "(3R,5S,6E)-7-{4-(4-fluorophenyl)-6-isopropyl-2-[methyl(methylsulfonyl)amino]pyrimidin-5-yl}-3,5-dihydroxyhept-6-enoic acid" RELATED [IUPAC] synonym: "rosuvastatin" RELATED INN [KEGG_DRUG] xref: Beilstein:9670765 {source="Beilstein"} xref: CAS:287714-41-4 {source="ChemIDplus"} xref: ChEMBL:518845 xref: ChemIDplus:287714-41-4 xref: Drug_Central:2406 {source="DrugCentral"} xref: DrugBank:DB01098 xref: HMDB:HMDB0015230 xref: KEGG:D08492 xref: MeSH:C422923 xref: NCIt:C66523 xref: Patent:US2013035316 xref: PMID:17970755 {source="Europe PMC"} xref: PMID:18509206 {source="Europe PMC"} xref: PMID:19724024 {source="Europe PMC"} xref: PMID:19956889 {source="Europe PMC"} xref: PMID:23806820 {source="Europe PMC"} xref: PMID:23881596 {source="Europe PMC"} xref: PMID:23944632 {source="Europe PMC"} xref: PMID:24072337 {source="Europe PMC"} xref: PMID:24076283 {source="Europe PMC"} xref: PMID:24076297 {source="Europe PMC"} xref: PMID:24156555 {source="Europe PMC"} xref: PMID:24163149 {source="Europe PMC"} xref: PMID:24230979 {source="Europe PMC"} xref: PMID:24253250 {source="Europe PMC"} xref: PMID:24259612 {source="Europe PMC"} xref: PMID:24304551 {source="Europe PMC"} xref: PMID:24333476 {source="Europe PMC"} xref: PMID:24353409 {source="Europe PMC"} xref: PMID:24410968 {source="Europe PMC"} xref: PMID:24417785 {source="Europe PMC"} xref: PMID:24434545 {source="Europe PMC"} xref: PMID:24440231 {source="Europe PMC"} xref: PMID:24440960 {source="Europe PMC"} xref: PMID:24444439 {source="Europe PMC"} xref: PMID:24452083 {source="Europe PMC"} xref: PMID:24456217 {source="Europe PMC"} xref: PMID:24467235 {source="Europe PMC"} xref: Reaxys:9670765 {source="Reaxys"} xref: SNOMEDCT:406436002 xref: SNOMEDCT:700067006 xref: Wikipedia:Rosuvastatin is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H28FN3O6S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C22H28FN3O6S/c1-13(2)20-18(10-9-16(27)11-17(28)12-19(29)30)21(14-5-7-15(23)8-6-14)25-22(24-20)26(3)33(4,31)32/h5-10,13,16-17,27-28H,11-12H2,1-4H3,(H,29,30)/b10-9+/t16-,17-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BPRHUIZQVSMCRT-VEUZHWNKSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "481.53800" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "481.16828" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)c1nc(nc(-c2ccc(F)cc2)c1\\C=C\\[C@@H](O)C[C@@H](O)CC(O)=O)N(C)S(C)(=O)=O" xsd:string [Term] id: CHEBI:38559 name: cytochrome P450 namespace: chebi_ontology subset: 3_STAR synonym: "CYP" RELATED [ChEBI] synonym: "cytochrome P450" EXACT IUPAC_NAME [IUPAC] synonym: "P450 protein" RELATED [COMe] xref: COMe:PRX000645 xref: NCIt:C16484 is_a: CHEBI:36080 ! protein [Term] id: CHEBI:38593 name: fenazaquin namespace: chebi_ontology subset: 3_STAR synonym: "4-[2-(4-tert-butylphenyl)ethoxy]quinazoline" EXACT IUPAC_NAME [IUPAC] synonym: "4-tert-butylphenethylquinazolin-4-yl ether" RELATED [ChemIDplus] synonym: "fenazaquin" EXACT [ChemIDplus] xref: Beilstein:8331263 {source="Beilstein"} xref: CAS:120928-09-8 {source="ChemIDplus"} xref: CAS:120928-09-8 {source="KEGG COMPOUND"} xref: KEGG:C18727 xref: MeSH:C087876 xref: NCIt:C68370 xref: PPDB:292 is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H22N2O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H22N2O/c1-20(2,3)16-10-8-15(9-11-16)12-13-23-19-17-6-4-5-7-18(17)21-14-22-19/h4-11,14H,12-13H2,1-3H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DMYHGDXADUDKCQ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "306.40150" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "306.17321" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)(C)c1ccc(CCOc2ncnc3ccccc23)cc1" xsd:string [Term] id: CHEBI:38637 name: tyrosine kinase inhibitor namespace: chebi_ontology def: "Any protein kinase inhibitor that interferes with the action of tyrosine kinase." [] subset: 3_STAR synonym: "protein tyrosine kinase inhibitor" RELATED [ChEBI] synonym: "protein tyrosine kinase inhibitors" RELATED [ChEBI] synonym: "TKI inhibitor" RELATED [ChEBI] synonym: "TKI inhibitors" RELATED [ChEBI] synonym: "tyrosine kinase inhibitors" RELATED [ChEBI] synonym: "tyrphostin" RELATED [ChEBI] synonym: "tyrphostins" RELATED [ChEBI] xref: NCIt:C1967 xref: Wikipedia:Tyrosine-kinase_inhibitor is_a: CHEBI:37699 ! protein kinase inhibitor relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:38641 name: trimethylbenzene namespace: chebi_ontology subset: 3_STAR synonym: "methylxylene" RELATED [ChemIDplus] synonym: "trimethyl benzene" RELATED [ChemIDplus] synonym: "trimethylbenzene" EXACT IUPAC_NAME [IUPAC] synonym: "trimethylbenzenes" RELATED [ChemIDplus] xref: CAS:25551-13-7 {source="ChemIDplus"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H12" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "120.192" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "120.09390" xsd:string [Term] id: CHEBI:38786 name: phosmet namespace: chebi_ontology subset: 3_STAR synonym: "Decemthion" RELATED [ChemIDplus] synonym: "Fosmet" RELATED [ChemIDplus] synonym: "O,O-Dimethyl phthalimidomethyl phosphorodithioate" RELATED [ChemIDplus] synonym: "O,O-Dimethyl S-(phthalimidomethyl) dithiophosphate" RELATED [ChemIDplus] synonym: "O,O-Dimethyl S-phthalimidomethyl phosphorodithioate" RELATED [ChemIDplus] synonym: "PMP" RELATED [NIST_Chemistry_WebBook] synonym: "S-((1,3-Dihydro-1,3-dioxo-2H-isoindol-2-yl)methyl)phosphorodithioic acid O,O-dimethyl ester" RELATED [ChemIDplus] synonym: "S-[(1,3-dioxo-1,3-dihydro-2H-isoindol-2-yl)methyl] O,O-dimethyl dithiophosphate" RELATED [IUPAC] synonym: "S-[(1,3-dioxo-1,3-dihydro-2H-isoindol-2-yl)methyl] O,O-dimethyl phosphorodithioate" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:264869 {source="Beilstein"} xref: CAS:732-11-6 {source="NIST Chemistry WebBook"} xref: CAS:732-11-6 {source="ChemIDplus"} xref: CAS:732-11-6 {source="KEGG COMPOUND"} xref: KEGG:C18756 xref: KEGG:D08372 xref: MeSH:D010706 xref: NCIt:C76877 xref: PPDB:521 xref: SNOMEDCT:51369005 xref: VSDB:521 is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:26020 ! phosphate relationship: has_role CHEBI:33286 ! agrochemical property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C11H12NO4PS2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C11H12NO4PS2/c1-15-17(18,16-2)19-7-12-10(13)8-5-3-4-6-9(8)11(12)14/h3-6H,7H2,1-2H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LMNZTLDVJIUSHT-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "317.32100" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "316.99454" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "COP(=S)(OC)SCN1C(=O)c2ccccc2C1=O" xsd:string [Term] id: CHEBI:38828 name: nonionic surfactant namespace: chebi_ontology def: "A surfactant with an uncharged hydrophilic headgroup." [] subset: 3_STAR synonym: "non-ionic surfactant" RELATED [ChEBI] synonym: "nonionic surfactants" RELATED [ChEBI] is_a: CHEBI:35195 ! surfactant [Term] id: CHEBI:38866 name: tetrafluoroethene namespace: chebi_ontology subset: 3_STAR synonym: "1,1,2,2-tetrafluoroethylene" RELATED [ChemIDplus] synonym: "C2F4" RELATED [IUPAC] synonym: "F2C=CF2" RELATED [IUPAC] synonym: "Perfluoraethylen" RELATED [ChEBI] synonym: "perfluoroethene" RELATED [NIST_Chemistry_WebBook] synonym: "perfluoroethylene" RELATED [ChemIDplus] synonym: "Tetrafluoraethen" RELATED [ChEBI] synonym: "Tetrafluoraethylen" RELATED [ChEBI] synonym: "tetrafluoroethene" EXACT IUPAC_NAME [IUPAC] synonym: "tetrafluoroethylene" RELATED [ChemIDplus] synonym: "TFE" RELATED [ChemIDplus] xref: Beilstein:1098492 {source="Beilstein"} xref: Beilstein:1740275 {source="Beilstein"} xref: CAS:116-14-3 {source="ChemIDplus"} xref: CAS:116-14-3 {source="NIST Chemistry WebBook"} xref: CAS:116-14-3 {source="KEGG COMPOUND"} xref: Gmelin:25997 {source="Gmelin"} xref: KEGG:C19299 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C2F4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C2F4/c3-1(4)2(5)6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BFKJFAAPBSQJPD-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "100.01501" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "99.99361" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "FC(F)=C(F)F" xsd:string [Term] id: CHEBI:38870 name: inhalation anaesthetic namespace: chebi_ontology subset: 3_STAR synonym: "anesthetic gases" RELATED [ChEBI] synonym: "inhalation anesthetics" RELATED [ChEBI] synonym: "Inhalationsanaesthetika" RELATED [ChEBI] synonym: "Inhalationsanaesthetikum" RELATED [ChEBI] synonym: "Inhalationsnarkotika" RELATED [ChEBI] synonym: "Inhalationsnarkotikum" RELATED [ChEBI] is_a: CHEBI:23888 ! drug is_a: EFO:0001899 ! drug role relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:38877 name: intravenous anaesthetic namespace: chebi_ontology subset: 3_STAR synonym: "i.v.-Anaesthetika" RELATED [ChEBI] synonym: "i.v.-Anaesthetikum" RELATED [ChEBI] synonym: "intravenous anesthetics" RELATED [ChEBI] is_a: CHEBI:23888 ! drug is_a: EFO:0001899 ! drug role relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:3892 name: corticotropin namespace: chebi_ontology def: "A polypeptide hormone produced and secreted by the pituitary gland comprising 39 amino acid residues coupled in a linear sequence. The N-terminal 24-amino acid segment is identical in all species and contains the adrenocorticotrophic activity. Corticotropin stimulates the cortex of the adrenal gland and boosts the synthesis of corticosteroids, mainly glucocorticoids but also sex steroids (androgens). It is used in the treatment of certain neurological disorders such as infantile spasms and multiple sclerosis, and diagnostically to investigate adrenocortical insufficiency." [] subset: 3_STAR synonym: "ACTH" RELATED [KEGG_COMPOUND] synonym: "Adrenocorticotropic hormone" RELATED [KEGG_COMPOUND] synonym: "adrenocorticotropin" RELATED [ChemIDplus] synonym: "corticotrofina" RELATED INN [ChemIDplus] synonym: "corticotrophine" RELATED INN [ChemIDplus] synonym: "corticotrophinum" RELATED INN [ChemIDplus] synonym: "Corticotropin" EXACT [KEGG_COMPOUND] synonym: "corticotropin" RELATED INN [ChemIDplus] synonym: "cortrophin" RELATED [ChemIDplus] synonym: "L-seryl-L-tyrosyl-L-seryl-L-methionyl-L-alpha-glutamyl-L-histidyl-L-phenylalanyl-L-arginyl-L-tryptophylglycyl-L-lysyl-L-prolyl-L-valylglycyl-L-lysyl-L-lysyl-L-arginyl-L-arginyl-L-prolyl-L-valyl-L-lysyl-L-valyl-L-tyrosyl-L-prolyl-L-alpha-aspartylglycyl-L-alanyl-L-alpha-glutamyl-L-alpha-aspartyl-L-alpha-glutamyl-L-seryl-L-alanyl-L-alpha-glutamyl-L-alanyl-L-phenylalanyl-L-prolyl-L-leucyl-L-alpha-glutamyl-L-phenylalanine" EXACT IUPAC_NAME [IUPAC] synonym: "SYSMEHFRWGKPVGKKRRPVKVYPDGAEDQLAEAFPLEF" RELATED [DrugBank] xref: CAS:9002-60-2 {source="ChemIDplus"} xref: CAS:9002-60-2 {source="KEGG COMPOUND"} xref: Drug_Central:4931 {source="DrugCentral"} xref: DrugBank:DB01285 xref: KEGG:C02017 xref: KEGG:D00146 xref: MeSH:D000324 xref: NCIt:C2282 xref: SNOMEDCT:40789008 is_a: CHEBI:24431 ! chemical entity relationship: has_role EFO:0001824 ! hormone role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C207H308N56O58S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C207H308N56O58S/c1-108(2)89-140(186(302)240-135(69-74-163(279)280)182(298)254-149(204(320)321)94-117-43-20-15-21-44-117)250-193(309)152-54-35-86-262(152)202(318)147(92-116-41-18-14-19-42-116)252-171(287)114(11)230-175(291)132(66-71-160(273)274)234-170(286)113(10)231-191(307)150(105-265)255-183(299)136(70-75-164(281)282)241-190(306)146(98-165(283)284)249-180(296)133(67-72-161(275)276)235-169(285)112(9)229-157(270)101-225-174(290)145(97-156(213)269)251-194(310)153-55-36-87-263(153)203(319)148(93-119-60-64-123(268)65-61-119)253-199(315)167(110(5)6)257-185(301)129(49-26-30-79-210)243-198(314)168(111(7)8)259-196(312)155-57-38-85-261(155)201(317)139(53-34-83-223-207(218)219)244-178(294)130(51-32-81-221-205(214)215)237-177(293)128(48-25-29-78-209)236-176(292)127(47-24-28-77-208)232-158(271)103-227-197(313)166(109(3)4)258-195(311)154-56-37-84-260(154)200(316)138(50-27-31-80-211)233-159(272)102-226-173(289)143(95-120-99-224-126-46-23-22-45-124(120)126)247-179(295)131(52-33-82-222-206(216)217)238-187(303)142(90-115-39-16-13-17-40-115)246-189(305)144(96-121-100-220-107-228-121)248-181(297)134(68-73-162(277)278)239-184(300)137(76-88-322-12)242-192(308)151(106-266)256-188(304)141(245-172(288)125(212)104-264)91-118-58-62-122(267)63-59-118/h13-23,39-46,58-65,99-100,107-114,125,127-155,166-168,224,264-268H,24-38,47-57,66-98,101-106,208-212H2,1-12H3,(H2,213,269)(H,220,228)(H,225,290)(H,226,289)(H,227,313)(H,229,270)(H,230,291)(H,231,307)(H,232,271)(H,233,272)(H,234,286)(H,235,285)(H,236,292)(H,237,293)(H,238,303)(H,239,300)(H,240,302)(H,241,306)(H,242,308)(H,243,314)(H,244,294)(H,245,288)(H,246,305)(H,247,295)(H,248,297)(H,249,296)(H,250,309)(H,251,310)(H,252,287)(H,253,315)(H,254,298)(H,255,299)(H,256,304)(H,257,301)(H,258,311)(H,259,312)(H,273,274)(H,275,276)(H,277,278)(H,279,280)(H,281,282)(H,283,284)(H,320,321)(H4,214,215,221)(H4,216,217,222)(H4,218,219,223)/t112-,113-,114-,125-,127-,128-,129-,130-,131-,132-,133-,134-,135-,136-,137-,138-,139-,140-,141-,142-,143-,144-,145-,146-,147-,148-,149-,150-,151-,152-,153-,154-,155-,166-,167-,168-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IDLFZVILOHSSID-OVLDLUHVSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "4541.06600" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "4538.25937" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CSCC[C@H](NC(=O)[C@H](CO)NC(=O)[C@H](Cc1ccc(O)cc1)NC(=O)[C@@H](N)CO)C(=O)N[C@@H](CCC(O)=O)C(=O)N[C@@H](Cc1cnc[nH]1)C(=O)N[C@@H](Cc1ccccc1)C(=O)N[C@@H](CCCNC(N)=N)C(=O)N[C@@H](Cc1c[nH]c2ccccc12)C(=O)NCC(=O)N[C@@H](CCCCN)C(=O)N1CCC[C@H]1C(=O)N[C@@H](C(C)C)C(=O)NCC(=O)N[C@@H](CCCCN)C(=O)N[C@@H](CCCCN)C(=O)N[C@@H](CCCNC(N)=N)C(=O)N[C@@H](CCCNC(N)=N)C(=O)N1CCC[C@H]1C(=O)N[C@@H](C(C)C)C(=O)N[C@@H](CCCCN)C(=O)N[C@@H](C(C)C)C(=O)N[C@@H](Cc1ccc(O)cc1)C(=O)N1CCC[C@H]1C(=O)N[C@@H](CC(N)=O)C(=O)NCC(=O)N[C@@H](C)C(=O)N[C@@H](CCC(O)=O)C(=O)N[C@@H](CC(O)=O)C(=O)N[C@@H](CCC(O)=O)C(=O)N[C@@H](CO)C(=O)N[C@@H](C)C(=O)N[C@@H](CCC(O)=O)C(=O)N[C@@H](C)C(=O)N[C@@H](Cc1ccccc1)C(=O)N1CCC[C@H]1C(=O)N[C@@H](CC(C)C)C(=O)N[C@@H](CCC(O)=O)C(=O)N[C@@H](Cc1ccccc1)C(O)=O" xsd:string [Term] id: CHEBI:38940 name: sunitinib namespace: chebi_ontology subset: 3_STAR synonym: "N-[2-(diethylamino)ethyl]-5-[(Z)-(5-fluoro-2-oxo-1,2-dihydro-3H-indol-3-ylidene)methyl]-2,4-dimethyl-1H-pyrrole-3-carboxamide" EXACT IUPAC_NAME [IUPAC] synonym: "SU-11248" RELATED [ChEBI] synonym: "Sunitinib" EXACT [ChemIDplus] synonym: "sunitinib" RELATED INN [ChEBI] synonym: "sunitinibum" RELATED INN [ChEBI] synonym: "Sutent" RELATED [ChemIDplus] xref: CAS:557795-19-4 {source="ChemIDplus"} xref: Drug_Central:2544 {source="DrugCentral"} xref: DrugBank:DB01268 xref: HMDB:HMDB0015397 xref: MeSH:C473478 xref: NCIt:C71622 xref: PMID:12531805 {source="Europe PMC"} xref: PMID:16845442 {source="Europe PMC"} xref: PMID:16916320 {source="Europe PMC"} xref: PMID:17327610 {source="Europe PMC"} xref: PMID:17962201 {source="Europe PMC"} xref: PMID:18971320 {source="Europe PMC"} xref: PMID:19830602 {source="Europe PMC"} xref: PMID:20406969 {source="Europe PMC"} xref: PMID:21792888 {source="Europe PMC"} xref: PMID:24188025 {source="Europe PMC"} xref: PMID:24393200 {source="Europe PMC"} xref: PMID:24402960 {source="Europe PMC"} xref: PMID:24403097 {source="Europe PMC"} xref: PMID:24521256 {source="Europe PMC"} xref: SNOMEDCT:421192001 xref: SNOMEDCT:421448007 xref: Wikipedia:Sunitinib is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:35610 ! antineoplastic agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H27FN4O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C22H27FN4O2/c1-5-27(6-2)10-9-24-22(29)20-13(3)19(25-14(20)4)12-17-16-11-15(23)7-8-18(16)26-21(17)28/h7-8,11-12,25H,5-6,9-10H2,1-4H3,(H,24,29)(H,26,28)/b17-12-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WINHZLLDWRZWRT-ATVHPVEESA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "398.47380" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "398.21180" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCN(CC)CCNC(=O)c1c(C)[nH]c(\\C=C2/C(=O)Nc3ccc(F)cc23)c1C" xsd:string [Term] id: CHEBI:3901 name: cosyntropin namespace: chebi_ontology def: "A synthetic peptide that is identical to the 24-amino acid segment at the N-terminal of adrenocorticotropic hormone (corticotropin). A segment similar in all species, it contains the biological activity that stimulates production of corticosteroids in the adrenal cortex. It is used diagnostically to investigate adrenocortical insufficiency." [] subset: 3_STAR synonym: "adrenocorticotropic hormone 1-24" RELATED [ChemIDplus] synonym: "alpha(1-24)-corticotrophin" RELATED [ChEBI] synonym: "ATCH (1-24)" RELATED [ChEBI] synonym: "beta(1-24)-corticotrophin" RELATED [ChEBI] synonym: "corticotropin-(1-24)" RELATED [ChemIDplus] synonym: "corticotropin-(1-24) tetracosapeptide" RELATED [ChEBI] synonym: "Cosyntropin" EXACT [KEGG_COMPOUND] synonym: "L-seryl-L-tyrosyl-L-seryl-L-methionyl-L-alpha-glutamyl-L-histidyl-L-phenylalanyl-L-arginyl-L-tryptophylglycyl-L-lysyl-L-prolyl-L-valylglycyl-L-lysyl-L-lysyl-L-arginyl-L-arginyl-L-prolyl-L-valyl-L-lysyl-L-valyl-L-tyrosyl-L-prolyline" EXACT IUPAC_NAME [IUPAC] synonym: "SerTyrSerMetGluHisPheArgTrpGlyLysProValGlyLysLysArgArgProValLysValTyrPro" RELATED [ChEBI] synonym: "SYSMEHFRWGKPVGKKRRPVKVYP" RELATED [DrugBank] synonym: "tetracosactide" RELATED INN [ChemIDplus] xref: CAS:16960-16-0 {source="KEGG COMPOUND"} xref: CAS:16960-16-0 {source="ChemIDplus"} xref: Drug_Central:4516 {source="DrugCentral"} xref: DrugBank:DB01284 xref: KEGG:C06926 xref: KEGG:D00284 is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:33295 ! diagnostic agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C136H210N40O31S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C136H210N40O31S/c1-75(2)109(127(200)154-71-106(181)156-88(31-13-17-52-137)114(187)158-89(32-14-18-53-138)115(188)159-91(35-21-56-149-134(142)143)116(189)164-96(37-23-58-151-136(146)147)131(204)175-60-25-39-104(175)126(199)173-111(77(5)6)128(201)163-90(33-15-19-54-139)120(193)171-110(76(3)4)129(202)169-101(65-80-43-47-84(180)48-44-80)132(205)176-61-26-40-105(176)133(206)207)172-125(198)103-38-24-59-174(103)130(203)95(34-16-20-55-140)157-107(182)70-153-113(186)99(66-81-68-152-87-30-12-11-29-85(81)87)167-117(190)92(36-22-57-150-135(144)145)160-121(194)98(63-78-27-9-8-10-28-78)166-123(196)100(67-82-69-148-74-155-82)168-118(191)93(49-50-108(183)184)161-119(192)94(51-62-208-7)162-124(197)102(73-178)170-122(195)97(165-112(185)86(141)72-177)64-79-41-45-83(179)46-42-79/h8-12,27-30,41-48,68-69,74-77,86,88-105,109-111,152,177-180H,13-26,31-40,49-67,70-73,137-141H2,1-7H3,(H,148,155)(H,153,186)(H,154,200)(H,156,181)(H,157,182)(H,158,187)(H,159,188)(H,160,194)(H,161,192)(H,162,197)(H,163,201)(H,164,189)(H,165,185)(H,166,196)(H,167,190)(H,168,191)(H,169,202)(H,170,195)(H,171,193)(H,172,198)(H,173,199)(H,183,184)(H,206,207)(H4,142,143,149)(H4,144,145,150)(H4,146,147,151)/t86-,88-,89-,90-,91-,92-,93-,94-,95-,96-,97-,98-,99-,100-,101-,102-,103-,104-,105-,109-,110-,111-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ZOEFCCMDUURGSE-SQKVDDBVSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "2933.43700" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "2931.58064" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CSCC[C@H](NC(=O)[C@H](CO)NC(=O)[C@H](Cc1ccc(O)cc1)NC(=O)[C@@H](N)CO)C(=O)N[C@@H](CCC(O)=O)C(=O)N[C@@H](Cc1cnc[nH]1)C(=O)N[C@@H](Cc1ccccc1)C(=O)N[C@@H](CCCNC(N)=N)C(=O)N[C@@H](Cc1c[nH]c2ccccc12)C(=O)NCC(=O)N[C@@H](CCCCN)C(=O)N1CCC[C@H]1C(=O)N[C@@H](C(C)C)C(=O)NCC(=O)N[C@@H](CCCCN)C(=O)N[C@@H](CCCCN)C(=O)N[C@@H](CCCNC(N)=N)C(=O)N[C@@H](CCCNC(N)=N)C(=O)N1CCC[C@H]1C(=O)N[C@@H](C(C)C)C(=O)N[C@@H](CCCCN)C(=O)N[C@@H](C(C)C)C(=O)N[C@@H](Cc1ccc(O)cc1)C(=O)N1CCC[C@H]1C(O)=O" xsd:string [Term] id: CHEBI:39026 name: low-density lipoprotein namespace: chebi_ontology def: "A class of lipoproteins of small size (18-25 nm) and low density (1.019-1.063 g/ml) particles with a core composed mainly of cholesterol esters and smaller amounts of triglycerides. The surface monolayer consists mostly of phospholipids, a single copy of apolipoprotein B-100, and free cholesterol molecules. The main function of LDL is to transport cholesterol and cholesterol esters from the liver. Excessive levels are associated with cardiovascular disease." [] subset: 3_STAR synonym: "beta-lipoproteins" RELATED [ChEBI] synonym: "LDL" RELATED [ChEBI] synonym: "low-density lipoproteins" RELATED [ChEBI] xref: CiteXplore:11082530 xref: CiteXplore:15583011 xref: CiteXplore:15913955 xref: CiteXplore:19349632 xref: PMID:11082530 {source="Europe PMC"} xref: PMID:15583011 {source="Europe PMC"} xref: PMID:15913955 {source="Europe PMC"} xref: PMID:19349632 {source="Europe PMC"} xref: PMID:28401639 {source="Europe PMC"} xref: PMID:28432662 {source="Europe PMC"} xref: PMID:28792690 {source="Europe PMC"} xref: PMID:28827781 {source="Europe PMC"} xref: PMID:28847800 {source="Europe PMC"} xref: PMID:28859941 {source="Europe PMC"} xref: PMID:28870972 {source="Europe PMC"} xref: Wikipedia:Low-density_lipoprotein is_a: CHEBI:36080 ! protein [Term] id: CHEBI:39116 name: pyrethroid ester insecticide namespace: chebi_ontology subset: 3_STAR synonym: "pyrethroid ester insecticides" RELATED [ChEBI] is_a: CHEBI:24432 ! biological role is_a: CHEBI:24852 ! insecticide [Term] id: CHEBI:39177 name: (E)-clothianidin namespace: chebi_ontology def: "A clothiadin that has E configuration at the C=N bond of the nitroguanidine moiety." [] subset: 3_STAR synonym: "(E)-1-[(2-chloro-1,3-thiazol-5-yl)methyl]-3-methyl-2-nitroguanidine" EXACT IUPAC_NAME [IUPAC] synonym: "(E)-N-(2-chloro-5-thiazolyl)methyl-N'-methyl-N''-nitroguanidine" RELATED [ChemIDplus] synonym: "Clothianidin" RELATED [ChemIDplus] xref: Beilstein:8620724 {source="Beilstein"} xref: CAS:205510-53-8 {source="ChemIDplus"} xref: CAS:210880-92-5 {source="ChemIDplus"} xref: CAS:210880-92-5 {source="KEGG COMPOUND"} xref: KEGG:C18508 xref: PDBeChem:CT4 xref: PPDB:171 is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H8ClN5O2S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H8ClN5O2S/c1-8-6(11-12(13)14)10-3-4-2-9-5(7)15-4/h2H,3H2,1H3,(H2,8,10,11)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PGOOBECODWQEAB-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "249.67800" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "249.00872" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN\\C(NCc1cnc(Cl)s1)=N/[N+]([O-])=O" xsd:string [Term] id: CHEBI:39214 name: abamectin namespace: chebi_ontology def: "Mixture of 80% avermectin B1a and 20% avermectin B1b." [] subset: 3_STAR synonym: "Abamectin" EXACT [ChemIDplus] synonym: "Agri-Mek" RELATED [ChemIDplus] synonym: "avermectin B1" RELATED [ChemIDplus] synonym: "Avid" RELATED [ChemIDplus] synonym: "MK 936" RELATED [ChemIDplus] synonym: "Zephyr" RELATED [ChemIDplus] xref: CAS:71751-41-2 {source="ChemIDplus"} xref: MeSH:C048324 xref: NCIt:C95196 is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:24852 ! insecticide relationship: has_role CHEBI:33281 ! antimicrobial agent [Term] id: CHEBI:39268 name: dibenzothiazepine namespace: chebi_ontology subset: 3_STAR synonym: "dibenzothiazepines" RELATED [ChEBI] is_a: CHEBI:24532 ! organic heterocyclic compound [Term] id: CHEBI:39352 name: dinitrophenol namespace: chebi_ontology def: "Members of the class of nitrophenol carrying two nitro substituents." [] subset: 3_STAR synonym: "dinitrophenol" EXACT IUPAC_NAME [IUPAC] synonym: "dinitrophenols" RELATED [ChEBI] xref: CAS:25550-58-7 {source="ChemIDplus"} is_a: CHEBI:33853 ! phenols property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H4N2O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "184.107" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "184.01202" xsd:string [Term] id: CHEBI:39384 name: lufenuron namespace: chebi_ontology subset: 3_STAR synonym: "1-(2,5-dichloro-4-(1,1,2,3,3,3-hexafluoropropoxy)phenyl)-3-(2,6-difluorobenzoyl)urea" RELATED [ChemIDplus] synonym: "Fluphenacur" RELATED [ChemIDplus] synonym: "Lufenuron" EXACT [ChemIDplus] synonym: "N-({[2,5-dichloro-4-(1,1,2,3,3,3-hexafluoropropoxy)phenyl]amino}carbonyl)-2,6-difluorobenzamide" RELATED [IUPAC] synonym: "N-{[2,5-dichloro-4-(1,1,2,3,3,3-hexafluoropropoxy)phenyl]carbamoyl}-2,6-difluorobenzamide" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:8398291 {source="Beilstein"} xref: CAS:103055-07-8 {source="KEGG COMPOUND"} xref: CAS:103055-07-8 {source="ChemIDplus"} xref: KEGG:C18434 xref: KEGG:D08150 xref: LINCS:LSM-21613 xref: MeSH:C070364 xref: NCIt:C76874 xref: Pesticides:lufenuron {source="Alan Wood's Pesticides"} xref: PPDB:420 xref: SNOMEDCT:96322008 xref: VSDB:420 is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:24852 ! insecticide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C17H8Cl2F8N2O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C17H8Cl2F8N2O3/c18-6-5-11(32-17(26,27)14(22)16(23,24)25)7(19)4-10(6)28-15(31)29-13(30)12-8(20)2-1-3-9(12)21/h1-5,14H,(H2,28,29,30,31)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PWPJGUXAGUPAHP-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "511.14973" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "509.97842" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "FC(C(F)(F)F)C(F)(F)Oc1cc(Cl)c(NC(=O)NC(=O)c2c(F)cccc2F)cc1Cl" xsd:string [Term] id: CHEBI:39548 name: atorvastatin namespace: chebi_ontology alt_id: CHEBI:2910 alt_id: CHEBI:39538 def: "A dihydroxy monocarboxylic acid that is a member of the drug class known as statins, used primarily for lowering blood cholesterol and for preventing cardiovascular diseases." [] subset: 3_STAR synonym: "(3R,5R)-7-[3-(anilinocarbonyl)-5-(4-fluorophenyl)-4-phenyl-2-(propan-2-yl)-1H-pyrrol-1-yl]-3,5-dihydroxyheptanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "(R-(R*,R*))-2-(4-Fluorophenyl)-beta,delta-dihydroxy-5-(1-methylethyl)-3-phenyl-4-((phenylamino)carbonyl)-1H-pyrrole-1-heptanoic acid" RELATED [ChemIDplus] synonym: "7-[2-(4-FLUORO-PHENYL)-5-ISOPROPYL-3-PHENYL-4-PHENYLCARBAMOYL-PYRROL-1-YL]-3,5-DIHYDROXY-HEPTANOIC ACID" RELATED [PDBeChem] synonym: "Atorlip" RELATED BRAND_NAME [ChEBI] synonym: "Atorvastatin" EXACT [KEGG_COMPOUND] synonym: "atorvastatin" RELATED INN [ChemIDplus] synonym: "atorvastatina" RELATED INN [ChEBI] synonym: "atorvastatine" RELATED INN [ChEBI] synonym: "atorvastatinum" RELATED INN [ChEBI] xref: Beilstein:8373630 {source="Beilstein"} xref: CAS:134523-00-5 {source="ChemIDplus"} xref: CAS:134523-00-5 {source="KEGG COMPOUND"} xref: Drug_Central:257 {source="DrugCentral"} xref: DrugBank:DB01076 xref: HMDB:HMDB0005006 xref: KEGG:C06834 xref: KEGG:D07474 xref: LINCS:LSM-5771 xref: MeSH:C065179 xref: NCIt:C61527 xref: Patent:EP409281 xref: Patent:US5273995 xref: PDBeChem:117 xref: PMID:11693468 {source="Europe PMC"} xref: PMID:15012735 {source="Europe PMC"} xref: PMID:18720283 {source="Europe PMC"} xref: Reaxys:8373630 {source="Reaxys"} xref: SNOMEDCT:108600003 xref: SNOMEDCT:373444002 xref: Wikipedia:Atorvastatin is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C33H35FN2O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C33H35FN2O5/c1-21(2)31-30(33(41)35-25-11-7-4-8-12-25)29(22-9-5-3-6-10-22)32(23-13-15-24(34)16-14-23)36(31)18-17-26(37)19-27(38)20-28(39)40/h3-16,21,26-27,37-38H,17-20H2,1-2H3,(H,35,41)(H,39,40)/t26-,27-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XUKUURHRXDUEBC-KAYWLYCHSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "558.63988" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "558.25300" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)c1c(C(=O)Nc2ccccc2)c(-c2ccccc2)c(-c2ccc(F)cc2)n1CC[C@@H](O)C[C@@H](O)CC(O)=O" xsd:string [Term] id: CHEBI:3962 name: curcumin namespace: chebi_ontology def: "A beta-diketone that is methane in which two of the hydrogens are substituted by feruloyl groups. A natural dyestuff found in the root of Curcuma longa." [] subset: 3_STAR synonym: "(1E,6E)-1,7-bis(4-hydroxy-3-methoxyphenyl)hepta-1,6-diene-3,5-dione" EXACT IUPAC_NAME [IUPAC] synonym: "C.I. 75300" RELATED [ChEBI] synonym: "C.I. Natural Yellow 3" RELATED [ChEBI] synonym: "Curcumin" EXACT [KEGG_COMPOUND] synonym: "curcumin" EXACT [UniProt] synonym: "Diferuloylmethane" RELATED [ChemIDplus] synonym: "E 100" RELATED [ChEBI] synonym: "Kacha haldi" RELATED [KEGG_COMPOUND] synonym: "Natural yellow 3" RELATED [ChemIDplus] synonym: "Turmeric yellow" RELATED [ChemIDplus] xref: CAS:458-37-7 {source="ChemIDplus"} xref: CAS:458-37-7 {source="KEGG COMPOUND"} xref: Chemspider:839564 xref: DrugBank:DB11672 xref: HMDB:HMDB0002269 xref: KEGG:C10443 xref: KNApSAcK:C00002731 xref: LINCS:LSM-43083 xref: MetaCyc:CPD-6602 xref: Patent:DE859145 xref: Patent:KR20130050834 xref: PDBeChem:CC9 xref: PMID:10923784 {source="Europe PMC"} xref: PMID:12083767 {source="Europe PMC"} xref: PMID:12450549 {source="Europe PMC"} xref: PMID:12826232 {source="Europe PMC"} xref: PMID:14561543 {source="Europe PMC"} xref: PMID:14634121 {source="Europe PMC"} xref: PMID:15129424 {source="Europe PMC"} xref: PMID:15659840 {source="Europe PMC"} xref: PMID:15753945 {source="Europe PMC"} xref: PMID:15809436 {source="Europe PMC"} xref: PMID:15842781 {source="Europe PMC"} xref: PMID:15879598 {source="Europe PMC"} xref: PMID:16276182 {source="Europe PMC"} xref: PMID:16292655 {source="Europe PMC"} xref: PMID:16413584 {source="Europe PMC"} xref: PMID:16712454 {source="Europe PMC"} xref: PMID:16972983 {source="Europe PMC"} xref: PMID:17182546 {source="Europe PMC"} xref: PMID:18815282 {source="Europe PMC"} xref: PMID:19038979 {source="Europe PMC"} xref: PMID:19204190 {source="Europe PMC"} xref: PMID:19234767 {source="Europe PMC"} xref: PMID:20057137 {source="Europe PMC"} xref: PMID:20645870 {source="Europe PMC"} xref: PMID:21466422 {source="Europe PMC"} xref: PMID:21642934 {source="Europe PMC"} xref: PMID:22044005 {source="Europe PMC"} xref: PMID:22051121 {source="Europe PMC"} xref: PMID:22118895 {source="Europe PMC"} xref: PMID:22122768 {source="Europe PMC"} xref: PMID:22211691 {source="Europe PMC"} xref: PMID:22318308 {source="Europe PMC"} xref: PMID:22753715 {source="Europe PMC"} xref: PMID:23386263 {source="Europe PMC"} xref: PMID:23574161 {source="Europe PMC"} xref: PMID:34299604 {source="Europe PMC"} xref: PMID:34473340 {source="Europe PMC"} xref: PMID:34572272 {source="Europe PMC"} xref: PMID:34572491 {source="Europe PMC"} xref: PMID:9698073 {source="Europe PMC"} xref: Reaxys:2306965 {source="Reaxys"} xref: Wikipedia:Curcumin is_a: CHEBI:33853 ! phenols property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C21H20O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C21H20O6/c1-26-20-11-14(5-9-18(20)24)3-7-16(22)13-17(23)8-4-15-6-10-19(25)21(12-15)27-2/h3-12,24-25H,13H2,1-2H3/b7-3+,8-4+" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VFLDPWHFBUODDF-FCXRPNKRSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "368.385" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "368.12599" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "COC1=C(O)C=CC(\\C=C\\C(=O)CC(=O)\\C=C\\C2=CC(OC)=C(O)C=C2)=C1" xsd:string [Term] id: CHEBI:39867 name: valproic acid namespace: chebi_ontology alt_id: CHEBI:115217 alt_id: CHEBI:39858 alt_id: CHEBI:9926 def: "A branched-chain saturated fatty acid that comprises of a propyl substituent on a pentanoic acid stem." [] subset: 3_STAR synonym: "2-n-propyl-n-valeric acid" RELATED [NIST_Chemistry_WebBook] synonym: "2-PROPYL-PENTANOIC ACID" RELATED [PDBeChem] synonym: "2-propylpentanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "2-propylpentanoic acid" RELATED [ChEMBL] synonym: "2-propylvaleric acid" RELATED [ChemIDplus] synonym: "4-heptanecarboxylic acid" RELATED [ChemIDplus] synonym: "acide valproique" RELATED INN [ChemIDplus] synonym: "acido valproico" RELATED INN [ChemIDplus] synonym: "acidum valproicum" RELATED INN [ChemIDplus] synonym: "Depakene" RELATED BRAND_NAME [KEGG_DRUG] synonym: "di-n-propylacetic acid" RELATED [ChemIDplus] synonym: "Di-n-propylessigsaeure" RELATED [ChemIDplus] synonym: "dipropylacetic acid" RELATED [NIST_Chemistry_WebBook] synonym: "DPA" RELATED [NIST_Chemistry_WebBook] synonym: "n-DPA" RELATED [DrugBank] synonym: "VALPROIC ACID" EXACT [ChEMBL] synonym: "valproic acid" RELATED INN [ChemIDplus] synonym: "Valproinsaeure" RELATED [ChEBI] synonym: "VPA" RELATED [ChEBI] xref: Beilstein:1750447 {source="ChemIDplus"} xref: CAS:99-66-1 {source="ChemIDplus"} xref: CAS:99-66-1 {source="NIST Chemistry WebBook"} xref: ChemIDplus:1750447 xref: ChemIDplus:99-66-1 xref: CiteXplore:12475192 xref: CiteXplore:17156483 xref: CiteXplore:19280426 xref: CiteXplore:8681902 xref: Drug_Central:2803 {source="DrugCentral"} xref: DrugBank:DB00313 xref: HMDB:HMDB0001877 xref: KEGG COMPOUND:C07185 xref: KEGG DRUG:D00399 xref: KEGG:C07185 xref: KEGG:D00399 xref: LINCS:LSM-4620 xref: LIPID_MAPS_instance:LMFA01020291 {source="LIPID MAPS"} xref: MeSH:D014635 xref: NCIt:C29536 xref: NIST Chemistry WebBook:99-66-1 xref: PDBeChem:2PP xref: PMID:11716839 {source="Europe PMC"} xref: PMID:12475192 {source="Europe PMC"} xref: PMID:15124690 {source="Europe PMC"} xref: PMID:15560954 {source="Europe PMC"} xref: PMID:15578701 {source="Europe PMC"} xref: PMID:16496131 {source="Europe PMC"} xref: PMID:16621443 {source="Europe PMC"} xref: PMID:16759735 {source="Europe PMC"} xref: PMID:17156483 {source="Europe PMC"} xref: PMID:17273758 {source="Europe PMC"} xref: PMID:19280426 {source="Europe PMC"} xref: PMID:19318486 {source="Europe PMC"} xref: PMID:23792104 {source="Europe PMC"} xref: PMID:23810771 {source="Europe PMC"} xref: PMID:23949302 {source="Europe PMC"} xref: PMID:24135375 {source="Europe PMC"} xref: PMID:24200999 {source="Europe PMC"} xref: PMID:24348849 {source="Europe PMC"} xref: PMID:8558327 {source="Europe PMC"} xref: PMID:8681902 {source="Europe PMC"} xref: Reaxys:1750447 {source="Reaxys"} xref: SNOMEDCT:13965000 xref: SNOMEDCT:387080000 xref: Wikipedia:Valproic_Acid is_a: CHEBI:35366 ! fatty acid relationship: has_role CHEBI:35477 ! antimanic drug property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H16O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H16O2/c1-3-5-7(6-4-2)8(9)10/h7H,3-6H2,1-2H3,(H,9,10)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NIJJYAXOARWZEE-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "144.21140" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "144.11503" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCC(CCC)C(O)=O" xsd:string [Term] id: CHEBI:40036 name: amitrole namespace: chebi_ontology alt_id: CHEBI:1448 alt_id: CHEBI:40029 def: "A member of the class of triazoles that is 1H-1,2,4-triazole substituted by an amino group at position 3. Used to control annual grasses and aquatic weeds (but not on food crops because it causes cancer in laboratory animals). Its use within the EU was banned from September 2017 on the grounds of potential groundwater contamination and risks to aquatic life; there have also been concerns about its endocrine-disrupting properties." [] subset: 3_STAR synonym: "1H-1,2,4-triazol-3-amine" EXACT IUPAC_NAME [IUPAC] synonym: "1H-1,2,4-triazol-3-ylamine" RELATED [ChemIDplus] synonym: "2-Amino-1,3,4-triazole" RELATED [KEGG_COMPOUND] synonym: "3-Amino-1,2,4-triazole" RELATED [KEGG_COMPOUND] synonym: "3-amino-s-triazole" RELATED [NIST_Chemistry_WebBook] synonym: "3-AT" RELATED [ChemIDplus] synonym: "Aminotriazole" RELATED [KEGG_COMPOUND] synonym: "Amitrole" EXACT [KEGG_COMPOUND] xref: Beilstein:107687 {source="Beilstein"} xref: CAS:61-82-5 {source="NIST Chemistry WebBook"} xref: CAS:61-82-5 {source="ChemIDplus"} xref: CAS:61-82-5 {source="KEGG COMPOUND"} xref: ChemIDplus:61-82-5 xref: CiteXplore:17549540 xref: CiteXplore:7986209 xref: Gmelin:200706 {source="Gmelin"} xref: KEGG COMPOUND:61-82-5 xref: KEGG COMPOUND:C11261 xref: KEGG:C11261 xref: LINCS:LSM-4595 xref: MetaCyc:CPD0-1491 xref: NIST Chemistry WebBook:61-82-5 xref: Patent:AU2012202062 xref: Patent:WO2007147209 xref: PDBeChem:3TR xref: Pesticides:amitrole {source="Alan Wood's Pesticides"} xref: PMID:11673067 {source="Europe PMC"} xref: PMID:17549540 {source="Europe PMC"} xref: PMID:25820916 {source="Europe PMC"} xref: PMID:7546330 {source="Europe PMC"} xref: PMID:7986209 {source="Europe PMC"} xref: PPDB:31 xref: Reaxys:107687 {source="Reaxys"} xref: Wikipedia:Amitrole is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:24527 ! herbicide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C2H4N4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C2H4N4/c3-2-4-1-5-6-2/h1H,(H3,3,4,5,6)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KLSJWNVTNUYHDU-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "84.080" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "84.04360" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "N1N=C(N=C1)N" xsd:string [Term] id: CHEBI:40070 name: 4-hydroxycoumarin namespace: chebi_ontology def: "A hydroxycoumarin that is coumarin in which the hydrogen at position 4 is replaced by a hydroxy group." [] subset: 3_STAR synonym: "4-coumarinol" RELATED [ChemIDplus] synonym: "4-hydroxy-2-chromenone" RELATED [ChemIDplus] synonym: "4-hydroxy-2H-1-benzopyran-2-one" RELATED [ChEBI] synonym: "4-hydroxy-2H-benzo[b]pyran-2-one" RELATED [ChEBI] synonym: "4-HYDROXY-2H-CHROMEN-2-ONE" RELATED [PDBeChem] synonym: "4-hydroxy-2H-chromen-2-one" EXACT IUPAC_NAME [IUPAC] synonym: "benzotetronic acid" RELATED [ChemIDplus] xref: CAS:1076-38-6 {source="ChemIDplus"} xref: MetaCyc:CPD-12111 xref: PDBeChem:4HC xref: PMID:18007464 {source="Europe PMC"} xref: PMID:19757094 {source="Europe PMC"} xref: Reaxys:129768 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H6O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H6O3/c10-7-5-9(11)12-8-4-2-1-3-6(7)8/h1-5,10H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VXIXUWQIVKSKSA-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "162.14210" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "162.03169" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Oc1cc(=O)oc2ccccc12" xsd:string [Term] id: CHEBI:4026 name: cyclophosphamide hydrate namespace: chebi_ontology def: "The monohydrate of cyclophosphamide." [] subset: 3_STAR synonym: "(+-)-2-(Bis(2-chloroethyl)amino)tetrahydro-2H-1,3,2-oxazaphosphorine 2-oxide monohydrate" RELATED [ChemIDplus] synonym: "(Bis(chloro-2-ethyl)amino)-2-tetrahydro-3,4,5,6-oxazaphosphorine-1,3,2-oxide-2 monohydrate" RELATED [ChemIDplus] synonym: "1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridine monohydrate" RELATED [ChemIDplus] synonym: "2-(Bis(2-chloroethyl)amino)-1-oxa-3-aza-2-phosphocyclohexane 2-oxide monohydrate" RELATED [ChemIDplus] synonym: "2-(Di(2-chloroethyl)amino)-1-oxa-3-aza-2-phosphacyclohexane-2-oxide monohydrate" RELATED [ChemIDplus] synonym: "Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester monohydrate" RELATED [ChemIDplus] synonym: "Cyclophosphamide" RELATED [KEGG_DRUG] synonym: "cyclophosphamide" RELATED INN [ChemIDplus] synonym: "Cyclophosphamide hydrate" EXACT [KEGG_COMPOUND] synonym: "Cyclophosphamide monohydrate" RELATED [ChemIDplus] synonym: "N,N-bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide hydrate" EXACT IUPAC_NAME [IUPAC] synonym: "N,N-bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide--water (1/1)" EXACT IUPAC_NAME [IUPAC] synonym: "N,N-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxaphosphorin-2-amine, 2-oxide monohydrate" RELATED [ChemIDplus] synonym: "N,N-Bis(beta-chloroethyl)-N',O-trimethylenephosphoric acid ester diamide monohydrate" RELATED [ChemIDplus] xref: Beilstein:8167897 {source="Beilstein"} xref: CAS:6055-19-2 {source="ChemIDplus"} xref: CAS:6055-19-2 {source="DrugBank"} xref: CAS:6055-19-2 {source="KEGG DRUG"} xref: DrugBank:DB00531 xref: KEGG:D00287 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H15Cl2N2O2P.H2O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H17Cl2N2O3P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H15Cl2N2O2P.H2O/c8-2-5-11(6-3-9)14(12)10-4-1-7-13-14;/h1-7H2,(H,10,12);1H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PWOQRKCAHTVFLB-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "279.10100" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "278.03538" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O.ClCCN(CCCl)P1(=O)NCCCO1" xsd:string [Term] id: CHEBI:4027 name: cyclophosphamide namespace: chebi_ontology def: "A phosphorodiamide that is 1,3,2-oxazaphosphinan-2-amine 2-oxide substituted by two 2-chloroethyl groups at the amino nitrogen atom." [] subset: 3_STAR synonym: "(+-)-Cyclophosphamide" RELATED [ChemIDplus] synonym: "(RS)-Cyclophosphamide" RELATED [ChemIDplus] synonym: "2-[Bis(2-chloroethylamino)]-tetrahydro-2H-1,3,2-oxazaphosphorine-2-oxide" RELATED [NIST_Chemistry_WebBook] synonym: "Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester" RELATED [ChemIDplus] synonym: "Cyclophosphamide anhydrous" RELATED [KEGG_COMPOUND] synonym: "N,N-bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide" EXACT IUPAC_NAME [IUPAC] synonym: "N,N-bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide" RELATED [IUPAC] xref: Beilstein:11744 {source="Beilstein"} xref: CAS:50-18-0 {source="NIST Chemistry WebBook"} xref: CAS:50-18-0 {source="ChemIDplus"} xref: CAS:50-18-0 {source="KEGG COMPOUND"} xref: Drug_Central:758 {source="DrugCentral"} xref: DrugBank:DB00531 xref: HMDB:HMDB0014672 xref: KEGG:C07888 xref: KEGG:D07760 xref: LINCS:LSM-4961 xref: MeSH:D003520 xref: NCIt:C405 xref: PMID:15711186 {source="Europe PMC"} xref: PMID:7850793 {source="Europe PMC"} xref: Reaxys:11744 {source="Reaxys"} xref: SNOMEDCT:387420009 xref: SNOMEDCT:74470007 xref: Wikipedia:Cyclophosphamide is_a: EFO:0004417 ! amide relationship: has_role CHEBI:23888 ! drug property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H15Cl2N2O2P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H15Cl2N2O2P/c8-2-5-11(6-3-9)14(12)10-4-1-7-13-14/h1-7H2,(H,10,12)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CMSMOCZEIVJLDB-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "261.08544" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "260.02482" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "ClCCN(CCCl)P1(=O)NCCCO1" xsd:string [Term] id: CHEBI:40279 name: allopurinol namespace: chebi_ontology alt_id: CHEBI:2601 alt_id: CHEBI:40276 def: "A bicyclic structure comprising a pyrazole ring fused to a hydroxy-substituted pyrimidine ring." [] subset: 3_STAR synonym: "1,5-Dihydro-4H-pyrazolo(3,4-d)pyrimidin-4-one" RELATED [ChemIDplus] synonym: "1,5-Dihydro-4H-pyrazolo(3,4-d)pyrimidine-4-one" RELATED [ChemIDplus] synonym: "1H-Pyrazolo(3,4-d)pyrimidin-4-ol" RELATED [ChemIDplus] synonym: "1H-pyrazolo[3,4-d]pyrimidin-4-ol" EXACT IUPAC_NAME [IUPAC] synonym: "4'-Hydroxypyrazolol(3,4-d)pyrimidine" RELATED [ChemIDplus] synonym: "4-HPP" RELATED [NIST_Chemistry_WebBook] synonym: "4-Hydroxy-1H-pyrazolo(3,4-d)pyrimidine" RELATED [ChemIDplus] synonym: "4-Hydroxy-3,4-pyrazolopyrimidine" RELATED [ChemIDplus] synonym: "4-Hydroxypyrazolo(3,4-d)pyrimidine" RELATED [ChemIDplus] synonym: "4-Hydroxypyrazolopyrimidine" RELATED [ChemIDplus] synonym: "4-Hydroxypyrazolyl(3,4-d)pyrimidine" RELATED [ChemIDplus] synonym: "4H-Pyrazolo(3,4-d)pyrimidin-4-one" RELATED [ChemIDplus] synonym: "AL-100" RELATED [ChemIDplus] synonym: "Allopurinol" EXACT [KEGG_DRUG] synonym: "Allopurinolum" RELATED [ChemIDplus] synonym: "Alopurinol" RELATED [ChemIDplus] synonym: "Zyloprim (TN)" RELATED [KEGG_DRUG] xref: Beilstein:608611 {source="Beilstein"} xref: CAS:315-30-0 {source="ChemIDplus"} xref: CAS:315-30-0 {source="NIST Chemistry WebBook"} xref: CAS:315-30-0 {source="KEGG DRUG"} xref: ChemIDplus:315-30-0 xref: CiteXplore:7602118 xref: Drug_Central:124 {source="DrugCentral"} xref: DrugBank:DB00437 xref: KEGG DRUG:315-30-0 xref: KEGG DRUG:D00224 xref: KEGG:D00224 xref: LINCS:LSM-5919 xref: MeSH:D000493 xref: NCIt:C224 xref: NIST Chemistry WebBook:315-30-0 xref: PMID:11333159 {source="Europe PMC"} xref: PMID:16650385 {source="Europe PMC"} xref: PMID:24395556 {source="Europe PMC"} xref: PMID:24590210 {source="Europe PMC"} xref: PMID:24591375 {source="Europe PMC"} xref: PMID:7602118 {source="Europe PMC"} xref: Reaxys:608611 {source="Reaxys"} xref: SNOMEDCT:25246002 xref: SNOMEDCT:387135004 xref: Wikipedia:Allopurinol is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:35221 ! antimetabolite property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H4N4O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H4N4O/c10-5-3-1-8-9-4(3)6-2-7-5/h1-2H,(H2,6,7,8,9,10)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OFCNXPDARWKPPY-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "136.11150" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "136.03851" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Oc1ncnc2[nH]ncc12" xsd:string [Term] id: CHEBI:4031 name: cyclosporin A namespace: chebi_ontology alt_id: CHEBI:63586 alt_id: CHEBI:91802 def: "A cyclic nonribosomal peptide of eleven amino acids; an immunosuppressant drug widely used in post-allogeneic organ transplant to reduce the activity of the patient's immune system, and therefore the risk of organ rejection. Also causes reversible inhibition of immunocompetent lymphocytes in the G0- and G1-phase of the cell cycle." [] subset: 3_STAR synonym: "(R-[R*,R*-(E)])-Cyclic(L-alanyl-D-alanyl-N-methyl-L-leucyl-N-methyl-L-leucyl-N-methyl-L-valyl-3-hydroxy-N,4-dimethyl-L-2-amino-6-octenoyl-L-alpha-aminobutyryl-N-methylglycyl-N-methyl-L-leucyl-L-valyl-N-methyl-L-leucyl)" RELATED [ChEBI] synonym: "1,11-cyclo[L-alanyl-D-alanyl-N-methyl-L-leucyl-N-methyl-L-leucyl-N-methyl-L-valyl-(E)-(2S,3R,4R)-2-amino-3-hydroxy-N,4-dimethyloct-6-enoyl-L-2-aminobutanoyl-N-methylglycyl-N-methyl-L-leucyl-L-valyl-N-methyl-L-leucine]" RELATED [JCBN] synonym: "30-ethyl-33-[(4E)-1-hydroxy-2-methylhex-4-en-1-yl]-1,4,7,10,12,15,19,25,28-nonamethyl-6,9,18,24-tetrakis(2-methylpropyl)-3,21-bis(propan-2-yl)-1,4,7,10,13,16,19,22,25,28,31-undecaazacyclotritriacontane-2,5,8,11,14,17,20,23,26,29,32-undecone" EXACT IUPAC_NAME [IUPAC] synonym: "30-ethyl-33-[(4E)-1-hydroxy-2-methylhex-4-en-1-yl]-6,9,18,24-tetraisobutyl-3,21-diisopropyl-1,4,7,10,12,15,19,25,28-nonamethyl-1,4,7,10,13,16,19,22,25,28,31-undecaazacyclotritriacontane-2,5,8,11,14,17,20,23,26,29,32-undecone" RELATED [ChEBI] synonym: "Antibiotic S 7481F1" RELATED [ChemIDplus] synonym: "Ciclosporin" RELATED [KEGG_COMPOUND] synonym: "ciclosporin" RELATED INN [KEGG_DRUG] synonym: "ciclosporina" RELATED INN [ChemIDplus] synonym: "ciclosporine" RELATED INN [ChemIDplus] synonym: "ciclosporinum" RELATED INN [ChemIDplus] synonym: "Cyclo(L-alanyl-D-alanyl-N-methyl-L-leucyl-N-methyl-L-leucyl-N-methyl-L-valyl-((3R,4R,6E)-6,7-didehydro-3-hydroxy-N,4-dimethyl-L-2-aminooctanoyl)-L-2-aminobutanoyl-N-methylglycyl-N-methyl-L-leucyl-L-valyl-N-methylleucyl)" RELATED [ChemIDplus] synonym: "Cyclosporin A" EXACT [KEGG_COMPOUND] synonym: "cyclosporin A" EXACT [UniProt] synonym: "Cyclosporine" RELATED [KEGG_COMPOUND] synonym: "Cyclosporine" RELATED [ChemIDplus] synonym: "Gengraf" RELATED BRAND_NAME [DrugBank] synonym: "Neoral" RELATED BRAND_NAME [DrugBank] synonym: "Sandimmune" RELATED BRAND_NAME [DrugBank] xref: Beilstein:3647785 {source="Beilstein"} xref: CAS:59865-13-3 {source="ChemIDplus"} xref: CAS:59865-13-3 {source="KEGG COMPOUND"} xref: ChemIDplus:59865-13-3 xref: Chemspider:4447449 xref: CiteXplore:11058832 xref: CiteXplore:11069928 xref: CiteXplore:11079273 xref: CiteXplore:11080188 xref: CiteXplore:11238591 xref: CiteXplore:11256490 xref: CiteXplore:11278005 xref: CiteXplore:11315347 xref: CiteXplore:11370709 xref: CiteXplore:11406057 xref: CiteXplore:11426833 xref: CiteXplore:11442023 xref: CiteXplore:11481617 xref: CiteXplore:11493684 xref: CiteXplore:11529914 xref: CiteXplore:11557554 xref: CiteXplore:11564166 xref: CiteXplore:11676831 xref: CiteXplore:11870366 xref: CiteXplore:12021257 xref: CiteXplore:12050171 xref: CiteXplore:12603598 xref: CiteXplore:12761440 xref: CiteXplore:12929192 xref: CiteXplore:12950728 xref: CiteXplore:14521916 xref: CiteXplore:14621732 xref: CiteXplore:14638917 xref: CiteXplore:14672695 xref: CiteXplore:14682659 xref: CiteXplore:14743390 xref: CiteXplore:15030555 xref: CiteXplore:15175101 xref: CiteXplore:15210365 xref: CiteXplore:15306697 xref: CiteXplore:15383526 xref: CiteXplore:15541012 xref: CiteXplore:15613074 xref: CiteXplore:15626898 xref: CiteXplore:15657176 xref: CiteXplore:1566062 xref: CiteXplore:15711594 xref: CiteXplore:15811524 xref: CiteXplore:15962181 xref: CiteXplore:16372476 xref: CiteXplore:16404634 xref: CiteXplore:16724420 xref: CiteXplore:16801218 xref: CiteXplore:16898534 xref: CiteXplore:17032751 xref: CiteXplore:17083576 xref: CiteXplore:17117422 xref: CiteXplore:17192032 xref: CiteXplore:17220244 xref: CiteXplore:17229932 xref: CiteXplore:17265451 xref: CiteXplore:17446460 xref: CiteXplore:17603747 xref: CiteXplore:18076075 xref: CiteXplore:18171316 xref: CiteXplore:18191430 xref: CiteXplore:18217899 xref: CiteXplore:18259730 xref: CiteXplore:18299432 xref: CiteXplore:18359899 xref: CiteXplore:18583716 xref: CiteXplore:18597363 xref: CiteXplore:18790203 xref: CiteXplore:18818682 xref: CiteXplore:18931077 xref: CiteXplore:18975184 xref: CiteXplore:19282398 xref: CiteXplore:19589783 xref: Drug_Central:760 {source="DrugCentral"} xref: DrugBank:DB00091 xref: HMDB:HMDB0250682 xref: KEGG COMPOUND:59865-13-3 xref: KEGG COMPOUND:C05086 xref: KEGG DRUG:D00184 xref: KEGG:C05086 xref: KEGG:D00184 xref: KNApSAcK:C00001517 xref: LINCS:LSM-1703 xref: LIPID_MAPS_instance:LMPK14000003 {source="LIPID MAPS"} xref: MeSH:D016572 xref: MetaCyc:CPD-20532 xref: NCIt:C406 xref: Patent:US4117118 xref: PMID:11058832 {source="Europe PMC"} xref: PMID:11069928 {source="Europe PMC"} xref: PMID:11079273 {source="Europe PMC"} xref: PMID:11080188 {source="Europe PMC"} xref: PMID:11238591 {source="Europe PMC"} xref: PMID:11256490 {source="Europe PMC"} xref: PMID:11278005 {source="Europe PMC"} xref: PMID:11315347 {source="Europe PMC"} xref: PMID:11370709 {source="Europe PMC"} xref: PMID:11406057 {source="Europe PMC"} xref: PMID:11426833 {source="Europe PMC"} xref: PMID:11442023 {source="Europe PMC"} xref: PMID:11481617 {source="Europe PMC"} xref: PMID:11493684 {source="Europe PMC"} xref: PMID:11529914 {source="Europe PMC"} xref: PMID:11557554 {source="Europe PMC"} xref: PMID:11564166 {source="Europe PMC"} xref: PMID:11676831 {source="Europe PMC"} xref: PMID:11870366 {source="Europe PMC"} xref: PMID:12021257 {source="Europe PMC"} xref: PMID:12050171 {source="Europe PMC"} xref: PMID:12603598 {source="Europe PMC"} xref: PMID:12761440 {source="Europe PMC"} xref: PMID:12929192 {source="Europe PMC"} xref: PMID:12950728 {source="Europe PMC"} xref: PMID:14521916 {source="Europe PMC"} xref: PMID:14621732 {source="Europe PMC"} xref: PMID:14638917 {source="Europe PMC"} xref: PMID:14672695 {source="Europe PMC"} xref: PMID:14682659 {source="Europe PMC"} xref: PMID:14743390 {source="Europe PMC"} xref: PMID:15030555 {source="Europe PMC"} xref: PMID:15175101 {source="Europe PMC"} xref: PMID:15210365 {source="Europe PMC"} xref: PMID:15306697 {source="Europe PMC"} xref: PMID:15383526 {source="Europe PMC"} xref: PMID:15541012 {source="Europe PMC"} xref: PMID:15613074 {source="Europe PMC"} xref: PMID:15626898 {source="Europe PMC"} xref: PMID:15657176 {source="Europe PMC"} xref: PMID:1566062 {source="Europe PMC"} xref: PMID:15711594 {source="Europe PMC"} xref: PMID:15811524 {source="Europe PMC"} xref: PMID:15962181 {source="Europe PMC"} xref: PMID:16372476 {source="Europe PMC"} xref: PMID:16404634 {source="Europe PMC"} xref: PMID:16724420 {source="Europe PMC"} xref: PMID:16801218 {source="Europe PMC"} xref: PMID:16898534 {source="Europe PMC"} xref: PMID:17032751 {source="Europe PMC"} xref: PMID:17083576 {source="Europe PMC"} xref: PMID:17117422 {source="Europe PMC"} xref: PMID:17192032 {source="Europe PMC"} xref: PMID:17220244 {source="Europe PMC"} xref: PMID:17229932 {source="Europe PMC"} xref: PMID:17265451 {source="Europe PMC"} xref: PMID:17446460 {source="Europe PMC"} xref: PMID:17603747 {source="Europe PMC"} xref: PMID:18076075 {source="Europe PMC"} xref: PMID:18171316 {source="Europe PMC"} xref: PMID:18191430 {source="Europe PMC"} xref: PMID:18217899 {source="Europe PMC"} xref: PMID:18259730 {source="Europe PMC"} xref: PMID:18299432 {source="Europe PMC"} xref: PMID:18359899 {source="Europe PMC"} xref: PMID:18583716 {source="Europe PMC"} xref: PMID:18597363 {source="Europe PMC"} xref: PMID:18790203 {source="Europe PMC"} xref: PMID:18818682 {source="Europe PMC"} xref: PMID:18931077 {source="Europe PMC"} xref: PMID:18975184 {source="Europe PMC"} xref: PMID:19282398 {source="Europe PMC"} xref: PMID:19589783 {source="Europe PMC"} xref: PMID:21752960 {source="Europe PMC"} xref: PMID:23620378 {source="Europe PMC"} xref: PMID:24134630 {source="Europe PMC"} xref: PMID:31144214 {source="Europe PMC"} xref: PMID:34561200 {source="Europe PMC"} xref: PMID:34561814 {source="Europe PMC"} xref: Reaxys:3647785 {source="Reaxys"} xref: SNOMEDCT:387467008 xref: SNOMEDCT:80906007 xref: VSDB:1765 xref: Wikipedia:Ciclosporin is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:23924 ! enzyme inhibitor relationship: has_role CHEBI:35705 ! immunosuppressive agent relationship: has_role CHEBI:35718 ! antifungal agent relationship: has_role CHEBI:35842 ! antirheumatic drug relationship: has_role CHEBI:50177 ! dermatologic drug property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C62H111N11O12" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C62H111N11O12/c1-25-27-28-40(15)52(75)51-56(79)65-43(26-2)58(81)67(18)33-48(74)68(19)44(29-34(3)4)55(78)66-49(38(11)12)61(84)69(20)45(30-35(5)6)54(77)63-41(16)53(76)64-42(17)57(80)70(21)46(31-36(7)8)59(82)71(22)47(32-37(9)10)60(83)72(23)50(39(13)14)62(85)73(51)24/h25,27,34-47,49-52,75H,26,28-33H2,1-24H3,(H,63,77)(H,64,76)(H,65,79)(H,66,78)/b27-25+/t40-,41+,42-,43+,44+,45+,46+,47+,49+,50+,51+,52-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PMATZTZNYRCHOR-CGLBZJNRSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "1202.61120" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "1201.84137" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC[C@@H]1NC(=O)[C@H]([C@H](O)[C@H](C)C\\C=C\\C)N(C)C(=O)[C@H](C(C)C)N(C)C(=O)[C@H](CC(C)C)N(C)C(=O)[C@H](CC(C)C)N(C)C(=O)[C@@H](C)NC(=O)[C@H](C)NC(=O)[C@H](CC(C)C)N(C)C(=O)[C@@H](NC(=O)[C@H](CC(C)C)N(C)C(=O)CN(C)C1=O)C(C)C" xsd:string [Term] id: CHEBI:4034 name: cyfluthrin namespace: chebi_ontology def: "A carboxylic ester obtained by formal condensation between 3-(2,2-dichloroethenyl)-2,2-dimethylcyclopropanecarboxylic acid and (4-fluoro-3-phenoxyphenyl)(hydroxy)acetonitrile." [] subset: 3_STAR synonym: "(R,S)-alpha-Cyano-4-fluoro-3-phenoxybenzyl-(1R,S)-cis,trans-3-(2,2-dichlorovinyl)-2,2-dimethylcyclopropanecarboxylate" RELATED [ChemIDplus] synonym: "cyano(4-fluoro-3-phenoxyphenyl)methyl 3-(2,2-dichloroethenyl)-2,2-dimethylcyclopropanecarboxylate" EXACT IUPAC_NAME [IUPAC] synonym: "Cyfluthrin" EXACT [KEGG_COMPOUND] xref: Beilstein:2788149 {source="Beilstein"} xref: CAS:68359-37-5 {source="ChemIDplus"} xref: CAS:68359-37-5 {source="KEGG COMPOUND"} xref: Drug_Central:4407 {source="DrugCentral"} xref: KEGG:C10982 xref: KEGG:D07761 xref: MeSH:C052570 xref: NCIt:C80599 xref: Patent:DE2709264 xref: Patent:US4218469 xref: Patent:US4287208 xref: PMID:17912691 {source="Europe PMC"} xref: PMID:18383791 {source="Europe PMC"} xref: PPDB:192 xref: Reaxys:2788149 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:33286 ! agrochemical relationship: has_role CHEBI:39116 ! pyrethroid ester insecticide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H18Cl2FNO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C22H18Cl2FNO3/c1-22(2)15(11-19(23)24)20(22)21(27)29-18(12-26)13-8-9-16(25)17(10-13)28-14-6-4-3-5-7-14/h3-11,15,18,20H,1-2H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QQODLKZGRKWIFG-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "434.28706" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "433.06478" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC1(C)C(C=C(Cl)Cl)C1C(=O)OC(C#N)c1ccc(F)c(Oc2ccccc2)c1" xsd:string [Term] id: CHEBI:40410 name: N-acetylglycine namespace: chebi_ontology alt_id: CHEBI:21610 alt_id: CHEBI:40405 def: "An N-acylglycine where the acyl group is specified as acetyl." [] subset: 3_STAR synonym: "(acetylamino)acetic acid" EXACT IUPAC_NAME [IUPAC] synonym: "Ac-Gly-OH" RELATED [ChEBI] synonym: "Acetamidoacetic acid" RELATED [ChemIDplus] synonym: "Aceturic acid" RELATED [ChemIDplus] synonym: "Acetylamino-Acetic Acid" RELATED [DrugBank] synonym: "Acetylaminoacetic acid" RELATED [ChemIDplus] synonym: "Acetylglycine" RELATED [ChemIDplus] synonym: "Ethanoylaminoethanoic acid" RELATED [ChemIDplus] synonym: "N-acetylglycine" EXACT IUPAC_NAME [IUPAC] xref: CAS:543-24-8 {source="ChemIDplus"} xref: DrugBank:DB02713 xref: HMDB:HMDB0000532 xref: Patent:PT1356744E xref: PDBeChem:AAC xref: PMID:18564856 {source="Europe PMC"} xref: PMID:20188778 {source="Europe PMC"} xref: PMID:21749142 {source="Europe PMC"} xref: PMID:22273063 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: Reaxys:774114 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H7NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H7NO3/c1-3(6)5-2-4(7)8/h2H2,1H3,(H,5,6)(H,7,8)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OKJIRPAQVSHGFK-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "117.10330" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "117.04259" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(=O)NCC(O)=O" xsd:string [Term] id: CHEBI:4047 name: L-cysteinylglycine namespace: chebi_ontology def: "A dipeptide consisting of glycine having an L-cysteinyl attached to its alpha-amino group. It is an intermediate metabolite in glutathione metabolism." [] subset: 3_STAR synonym: "CG" RELATED [ChEBI] synonym: "Cys-Gly" RELATED [KEGG_COMPOUND] synonym: "Cysteinylglycine" RELATED [ChemIDplus] synonym: "L-Cysteinylglycine" EXACT [KEGG_COMPOUND] synonym: "L-cysteinylglycine" EXACT IUPAC_NAME [IUPAC] synonym: "N-L-cysteinylglycine" RELATED [ChemIDplus] xref: Beilstein:1724689 {source="ChemIDplus"} xref: CAS:19246-18-5 {source="ChemIDplus"} xref: CAS:19246-18-5 {source="KEGG COMPOUND"} xref: ECMDB:ECMDB00078 xref: Gmelin:83158 {source="Gmelin"} xref: HMDB:HMDB0000078 xref: KEGG:C01419 xref: MetaCyc:CYS-GLY xref: PMID:24500895 {source="Europe PMC"} xref: PMID:7492739 {source="Europe PMC"} xref: Reaxys:1724689 {source="Reaxys"} xref: YMDB:YMDB00690 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H10N2O3S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H10N2O3S/c6-3(2-11)5(10)7-1-4(8)9/h3,11H,1-2,6H2,(H,7,10)(H,8,9)/t3-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ZUKPVRWZDMRIEO-VKHMYHEASA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "178.21058" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "178.04121" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "N[C@@H](CS)C(=O)NCC(O)=O" xsd:string [Term] id: CHEBI:40521 name: N(alpha)-acetyl-L-arginine namespace: chebi_ontology def: "An N-acetyl-L-amino acid that is L-arginine in which one of the hydrogens attached to the nitrogen is replaced by an acetyl group." [] subset: 3_STAR synonym: "N(2)-acetyl-L-arginine" RELATED [ChEBI] synonym: "N-Ac-L-Arg-OH" RELATED [ChEBI] synonym: "N-Acetyl-L-arginine" RELATED [ChemIDplus] xref: CAS:155-84-0 {source="ChemIDplus"} xref: PDBeChem:AAG xref: PMID:11599938 {source="Europe PMC"} xref: PMID:11672731 {source="Europe PMC"} xref: PMID:18256486 {source="Europe PMC"} xref: PMID:2897459 {source="Europe PMC"} xref: Reaxys:1728469 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H16N4O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H16N4O3/c1-5(13)12-6(7(14)15)3-2-4-11-8(9)10/h6H,2-4H2,1H3,(H,12,13)(H,14,15)(H4,9,10,11)/t6-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SNEIUMQYRCDYCH-LURJTMIESA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "216.23760" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "216.12224" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(=O)N[C@@H](CCCNC(N)=N)C(O)=O" xsd:string [Term] id: CHEBI:40909 name: azoxystrobin namespace: chebi_ontology def: "An aryloxypyrimidine having a 4,6-diphenoxypyrimidine skeleton in which one of the phenyl rings is cyano-substituted at C-2 and the other carries a 2-methoxy-1-(methoxycarbonyl)vinyl substituent, also at C-2. An inhibitor of mitochondrial respiration by blocking electron transfer between cytochromes b and c1, it is used widely as a fungicide in agriculture." [] subset: 3_STAR synonym: "(alphaE)-2-[[6-(2-cyanophenoxy)-4-pyrimidinyl]oxy]-alpha-(methoxymethylene) benzeneacetic acid methyl ester" RELATED [ChEBI] synonym: "methyl (2E)-2-(2-{[6-(2-cyanophenoxy)pyrimidin-4-yl]oxy}phenyl)-3-methoxyprop-2-enoate" EXACT IUPAC_NAME [IUPAC] synonym: "methyl (E)-2-[2-[6-(2-cyanophenoxy)pyrimidin-4-yloxy]phenyl]-3-methoxyacrylate" RELATED [ChEBI] xref: Beilstein:8350244 {source="Beilstein"} xref: CAS:131860-33-8 {source="KEGG COMPOUND"} xref: CAS:131860-33-8 {source="ChemIDplus"} xref: KEGG:C18558 xref: Patent:EP382375 xref: Patent:US5395837 xref: PDBeChem:AZO xref: Pesticides:azoxystrobin {source="Alan Wood's Pesticides"} xref: PMID:20818521 {source="Europe PMC"} xref: PMID:21153804 {source="Europe PMC"} xref: PMID:21671616 {source="Europe PMC"} xref: PMID:21777591 {source="Europe PMC"} xref: PMID:21884765 {source="Europe PMC"} xref: PMID:22092932 {source="Europe PMC"} xref: PMID:22224459 {source="Europe PMC"} xref: PMID:22278367 {source="Europe PMC"} xref: PMID:24125711 {source="Europe PMC"} xref: PMID:24405376 {source="Europe PMC"} xref: PMID:24700092 {source="Europe PMC"} xref: PMID:24726979 {source="Europe PMC"} xref: PMID:25011117 {source="Europe PMC"} xref: PMID:25090100 {source="Europe PMC"} xref: PMID:25196149 {source="Europe PMC"} xref: PPDB:54 xref: Reaxys:8350244 {source="Reaxys"} xref: Wikipedia:Azoxystrobin is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H17N3O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C22H17N3O5/c1-27-13-17(22(26)28-2)16-8-4-6-10-19(16)30-21-11-20(24-14-25-21)29-18-9-5-3-7-15(18)12-23/h3-11,13-14H,1-2H3/b17-13+" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WFDXOXNFNRHQEC-GHRIWEEISA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "403.38750" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "403.11682" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CO\\C=C(\\C(=O)OC)c1ccccc1Oc1cc(Oc2ccccc2C#N)ncn1" xsd:string [Term] id: CHEBI:40992 name: N-acetyl-L-alanine namespace: chebi_ontology alt_id: CHEBI:21544 alt_id: CHEBI:40986 def: "An N-acetyl-L-amino acid that is L-alanine in which one of the hydrogens attached to the nitrogen is replaced by an acetyl group." [] subset: 3_STAR synonym: "(S)-2-(acetylamino)propanoic acid" RELATED [ChEBI] synonym: "2-Acetamidopropionic acid" RELATED [ChemIDplus] synonym: "Ac-Ala-OH" RELATED [ChEBI] synonym: "Acetylalanine" RELATED [ChemIDplus] synonym: "L-N-Acetylalanine" RELATED [HMDB] synonym: "N-acetyl-L-alanine" EXACT IUPAC_NAME [IUPAC] synonym: "N-acetyl-L-alpha-alanine" RELATED [NIST_Chemistry_WebBook] synonym: "N-Acetyl-S-alanine" RELATED [NIST_Chemistry_WebBook] synonym: "N-Acetylalanine" RELATED [DrugBank] xref: CAS:97-69-8 {source="ChemIDplus"} xref: CAS:97-69-8 {source="NIST Chemistry WebBook"} xref: DrugBank:DB02518 xref: HMDB:HMDB0000766 xref: PDBeChem:AYA xref: PMID:10794474 {source="Europe PMC"} xref: PMID:16990931 {source="Europe PMC"} xref: PMID:17439666 {source="Europe PMC"} xref: PMID:50368 {source="Europe PMC"} xref: Reaxys:1722932 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H9NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H9NO3/c1-3(5(8)9)6-4(2)7/h3H,1-2H3,(H,6,7)(H,8,9)/t3-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KTHDTJVBEPMMGL-VKHMYHEASA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "131.12990" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "131.05824" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[C@H](NC(C)=O)C(O)=O" xsd:string [Term] id: CHEBI:41423 name: celecoxib namespace: chebi_ontology alt_id: CHEBI:3520 alt_id: CHEBI:41418 def: "A member of the class of pyrazoles that is 1H-pyrazole which is substituted at positions 1, 3 and 5 by 4-sulfamoylphenyl, trifluoromethyl and p-tolyl groups, respectively. A cyclooxygenase-2 inhibitor, it is used in the treatment of arthritis." [] subset: 3_STAR synonym: "4-[5-(4-methylphenyl)-3-(trifluoromethyl)-1H-pyrazol-1-yl]benzenesulfonamide" EXACT IUPAC_NAME [IUPAC] synonym: "Celebrex" RELATED BRAND_NAME [KEGG_DRUG] synonym: "Celecoxib" EXACT [KEGG_COMPOUND] synonym: "celecoxib" RELATED INN [WHO_MedNet] synonym: "celecoxibum" RELATED INN [WHO_MedNet] synonym: "p-(5-p-Tolyl-3-(trifluoromethyl)pyrazol-1-yl)benzenesulfonamide" RELATED [ChemIDplus] xref: CAS:169590-42-5 {source="NIST Chemistry WebBook"} xref: CAS:169590-42-5 {source="ChemIDplus"} xref: CAS:184007-95-2 {source="ChemIDplus"} xref: Chemspider:2562 xref: Drug_Central:568 {source="DrugCentral"} xref: DrugBank:DB00482 xref: FooDB:FDB023586 xref: HMDB:HMDB0005014 xref: KEGG:C07589 xref: KEGG:D00567 xref: LINCS:LSM-2032 xref: MeSH:C105934 xref: NCIt:C1728 xref: PDBeChem:CEL xref: PMID:14736236 {source="Europe PMC"} xref: PMID:16580269 {source="Europe PMC"} xref: PMID:17983259 {source="Europe PMC"} xref: PMID:18405470 {source="Europe PMC"} xref: PMID:19137124 {source="Europe PMC"} xref: PMID:19203891 {source="Europe PMC"} xref: PMID:19955429 {source="Europe PMC"} xref: PMID:20709553 {source="Europe PMC"} xref: PMID:21348927 {source="Europe PMC"} xref: PMID:21955617 {source="Europe PMC"} xref: PMID:22141388 {source="Europe PMC"} xref: PMID:22419293 {source="Europe PMC"} xref: PMID:22971036 {source="Europe PMC"} xref: PMID:23296687 {source="Europe PMC"} xref: PMID:23506230 {source="Europe PMC"} xref: PMID:27756840 {source="Europe PMC"} xref: PMID:28166217 {source="Europe PMC"} xref: Reaxys:8280770 {source="Reaxys"} xref: SNOMEDCT:116081000 xref: Wikipedia:Celecoxib is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:35481 ! non-narcotic analgesic relationship: has_role CHEBI:35544 ! EC 1.14.99.1 (prostaglandin-endoperoxide synthase) inhibitor property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C17H14F3N3O2S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C17H14F3N3O2S/c1-11-2-4-12(5-3-11)15-10-16(17(18,19)20)22-23(15)13-6-8-14(9-7-13)26(21,24)25/h2-10H,1H3,(H2,21,24,25)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RZEKVGVHFLEQIL-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "381.370" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "381.07588" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC1=CC=C(C=C1)C1=CC(=NN1C1=CC=C(C=C1)S(N)(=O)=O)C(F)(F)F" xsd:string [Term] id: CHEBI:41500 name: 4-phenylbutyric acid namespace: chebi_ontology alt_id: CHEBI:64058 def: "A monocarboxylic acid the structure of which is that of butyric acid substituted with a phenyl group at C-4. It is a histone deacetylase inhibitor that displays anticancer activity. It inhibits cell proliferation, invasion and migration and induces apoptosis in glioma cells. It also inhibits protein isoprenylation, depletes plasma glutamine, increases production of foetal haemoglobin through transcriptional activation of the gamma-globin gene and affects hPPARgamma activation." [] subset: 3_STAR synonym: "4-PHENYL-BUTANOIC ACID" RELATED [PDBeChem] synonym: "4-Phenyl-n-butyric acid" RELATED [NIST_Chemistry_WebBook] synonym: "4-phenylbutanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "Benzenebutyric acid" RELATED [ChemIDplus] synonym: "gamma-Phenyl-n-butyric acid" RELATED [NIST_Chemistry_WebBook] synonym: "gamma-phenylbutyric acid" RELATED [ChemIDplus] synonym: "omega-Phenylbutanoic acid" RELATED [NIST_Chemistry_WebBook] synonym: "omega-phenylbutyric acid" RELATED [ChemIDplus] synonym: "PBA" RELATED [ChEBI] xref: CAS:1821-12-1 {source="ChemIDplus"} xref: CAS:1821-12-1 {source="NIST Chemistry WebBook"} xref: ChEMBL:497873 xref: ChemIDplus:1821-12-1 xref: CiteXplore:19918981 xref: CiteXplore:20399799 xref: CiteXplore:21237159 xref: CiteXplore:21726539 xref: CiteXplore:21887297 xref: CiteXplore:21894430 xref: CiteXplore:22101259 xref: CiteXplore:22359472 xref: Drug_Central:24 {source="DrugCentral"} xref: HMDB:HMDB0000543 xref: LINCS:LSM-5751 xref: MeSH:C075773 xref: MetaCyc:CPD-14367 xref: NCIt:C63699 xref: NIST Chemistry WebBook:1821-12-1 xref: PDBeChem:CLT xref: PMID:19918981 {source="Europe PMC"} xref: PMID:20399799 {source="Europe PMC"} xref: PMID:21237159 {source="Europe PMC"} xref: PMID:21726539 {source="Europe PMC"} xref: PMID:21887297 {source="Europe PMC"} xref: PMID:21894430 {source="Europe PMC"} xref: PMID:22101259 {source="Europe PMC"} xref: PMID:22359472 {source="Europe PMC"} xref: Reaxys:638180 {source="Reaxys"} is_a: EFO:0004416 ! acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H12O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H12O2/c11-10(12)8-4-7-9-5-2-1-3-6-9/h1-3,5-6H,4,7-8H2,(H,11,12)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OBKXEAXTFZPCHS-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "164.20110" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "164.08373" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)CCCc1ccccc1" xsd:string [Term] id: CHEBI:41774 name: tamoxifen namespace: chebi_ontology alt_id: CHEBI:41767 alt_id: CHEBI:9396 subset: 3_STAR synonym: "(Z)-2-(4-(1,2-Diphenyl-1-butenyl)phenoxy)-N,N-dimethylethanamine" RELATED [ChemIDplus] synonym: "(Z)-2-(para-(1,2-Diphenyl-1-butenyl)phenoxy)-N,N-dimethylamine" RELATED [ChemIDplus] synonym: "1-p-beta-Dimethylaminoethoxyphenyl-trans-1,2-diphenylbut-1-ene" RELATED [ChemIDplus] synonym: "1-para-beta-Dimethylaminoethoxyphenyl-trans-1,2-diphenylbut-1-ene" RELATED [ChemIDplus] synonym: "2-{4-[(1Z)-1,2-diphenylbut-1-en-1-yl]phenoxy}-N,N-dimethylethanamine" EXACT IUPAC_NAME [IUPAC] synonym: "Apo-Tamox" RELATED BRAND_NAME [DrugBank] synonym: "Crisafeno" RELATED BRAND_NAME [DrugBank] synonym: "Diemon" RELATED BRAND_NAME [DrugBank] synonym: "Tamoxifen" EXACT [KEGG_COMPOUND] synonym: "tamoxifen" RELATED INN [ChemIDplus] synonym: "tamoxifene" RELATED INN [ChemIDplus] synonym: "tamoxifeno" RELATED INN [ChemIDplus] synonym: "tamoxifenum" RELATED INN [ChemIDplus] synonym: "trans-Tamoxifen" RELATED [ChemIDplus] xref: Beilstein:2062020 {source="Beilstein"} xref: CAS:10540-29-1 {source="ChemIDplus"} xref: CAS:10540-29-1 {source="KEGG COMPOUND"} xref: ChEMBL:106968 xref: ChemIDplus:10540-29-1 xref: Drug_Central:2561 {source="DrugCentral"} xref: DrugBank:DB00675 xref: HMDB:HMDB0014813 xref: KEGG COMPOUND:10540-29-1 xref: KEGG COMPOUND:C07108 xref: KEGG:C07108 xref: KEGG:D08559 xref: MeSH:D013629 xref: NCIt:C62078 xref: Patent:BE637389 xref: Patent:BE678807 xref: Patent:US4536516 xref: PMID:14681337 {source="Europe PMC"} xref: PMID:14709804 {source="Europe PMC"} xref: PMID:18348622 {source="Europe PMC"} xref: PMID:7688593 {source="Europe PMC"} xref: SNOMEDCT:373345002 xref: SNOMEDCT:75959001 xref: Wikipedia:Tamoxifen is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:35610 ! antineoplastic agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C26H29NO" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C26H29NO/c1-4-25(21-11-7-5-8-12-21)26(22-13-9-6-10-14-22)23-15-17-24(18-16-23)28-20-19-27(2)3/h5-18H,4,19-20H2,1-3H3/b26-25-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NKANXQFJJICGDU-QPLCGJKRSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "371.51460" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "371.22491" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC\\C(c1ccccc1)=C(/c1ccccc1)c1ccc(OCCN(C)C)cc1" xsd:string [Term] id: CHEBI:41879 name: dexamethasone namespace: chebi_ontology alt_id: CHEBI:41873 alt_id: CHEBI:4461 def: "A fluorinated steroid that is 9-fluoropregna-1,4-diene substituted by hydroxy groups at positions 11, 17 and 21, a methyl group at position 16 and oxo groups at positions 3 and 20. It is a synthetic member of the class of glucocorticoids." [] subset: 3_STAR synonym: "(11beta,16alpha)-9-fluoro-11,17,21-trihydroxy-16-methylpregna-1,4-diene-3,20-dione" RELATED [ChemIDplus] synonym: "1-dehydro-16alpha-methyl-9alpha-fluorohydrocortisone" RELATED [NIST_Chemistry_WebBook] synonym: "16alpha-methyl-9alpha-fluoro-1-dehydrocortisol" RELATED [NIST_Chemistry_WebBook] synonym: "9-fluoro-11beta,17,21-trihydroxy-16alpha-methylpregna-1,4-diene-3,20-dione" EXACT IUPAC_NAME [IUPAC] synonym: "9alpha-fluoro-16alpha-methylprednisolone" RELATED [NIST_Chemistry_WebBook] synonym: "Aeroseb-Dex" RELATED BRAND_NAME [ChemIDplus] synonym: "Auxiron" RELATED BRAND_NAME [ChemIDplus] synonym: "Azium" RELATED BRAND_NAME [ChemIDplus] synonym: "Calonat" RELATED BRAND_NAME [ChemIDplus] synonym: "Corson" RELATED BRAND_NAME [ChEBI] synonym: "Cortisumman" RELATED BRAND_NAME [ChemIDplus] synonym: "Decacort" RELATED BRAND_NAME [ChEBI] synonym: "Decadron" RELATED BRAND_NAME [KEGG_DRUG] synonym: "Decaject" RELATED BRAND_NAME [ChemIDplus] synonym: "Decalix" RELATED BRAND_NAME [ChemIDplus] synonym: "Decameth" RELATED BRAND_NAME [ChemIDplus] synonym: "Dexacortal" RELATED BRAND_NAME [ChemIDplus] synonym: "Dexacortin" RELATED BRAND_NAME [ChemIDplus] synonym: "dexametasona" RELATED INN [WHO_MedNet] synonym: "Dexamethasone" EXACT [KEGG_DRUG] synonym: "dexamethasone" EXACT [UniProt] synonym: "dexamethasone" RELATED INN [WHO_MedNet] synonym: "dexamethasonum" RELATED INN [WHO_MedNet] synonym: "Dexason" RELATED BRAND_NAME [ChemIDplus] synonym: "Dexasone" RELATED BRAND_NAME [ChemIDplus] synonym: "DexPak" RELATED BRAND_NAME [ChemIDplus] synonym: "Diodex" RELATED BRAND_NAME [ChEBI] synonym: "fluormethylprednisolone" RELATED [VSDB] synonym: "Hexadrol" RELATED BRAND_NAME [ChemIDplus] synonym: "Maxidex" RELATED BRAND_NAME [ChemIDplus] synonym: "Millicorten" RELATED BRAND_NAME [ChemIDplus] synonym: "Oradexon" RELATED BRAND_NAME [ChemIDplus] synonym: "Ozurdex" RELATED BRAND_NAME [ChEBI] synonym: "Solurex" RELATED BRAND_NAME [ChEBI] synonym: "Zema-Pak" RELATED BRAND_NAME [ChEBI] xref: Beilstein:2066652 {source="Beilstein"} xref: CAS:50-02-2 {source="ChemIDplus"} xref: CAS:50-02-2 {source="NIST Chemistry WebBook"} xref: Drug_Central:824 {source="DrugCentral"} xref: DrugBank:DB01234 xref: FooDB:FDB001355 xref: HMDB:HMDB0015364 xref: KEGG:C15643 xref: KEGG:D00292 xref: MeSH:D003907 xref: MetaCyc:CPD-10549 xref: NCIt:C422 xref: Patent:DE1113690 xref: Patent:GB869511 xref: Patent:US3007923 xref: PMID:11508649 {source="Europe PMC"} xref: PMID:12151000 {source="Europe PMC"} xref: PMID:12686538 {source="Europe PMC"} xref: PMID:18272184 {source="Europe PMC"} xref: PMID:18524938 {source="Europe PMC"} xref: PMID:19779450 {source="Europe PMC"} xref: PMID:20850457 {source="Europe PMC"} xref: PMID:26602186 {source="Europe PMC"} xref: PMID:29958267 {source="Europe PMC"} xref: PMID:31391291 {source="Europe PMC"} xref: PMID:32195984 {source="Europe PMC"} xref: PMID:32280693 {source="Europe PMC"} xref: PMID:32496907 {source="Europe PMC"} xref: PMID:32551464 {source="Europe PMC"} xref: PMID:32570995 {source="Europe PMC"} xref: Reaxys:2066652 {source="Reaxys"} xref: SNOMEDCT:372584003 xref: VSDB:1769 xref: Wikipedia:Dexamethasone is_a: CHEBI:26764 ! steroid hormone property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H29FO5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C22H29FO5/c1-12-8-16-15-5-4-13-9-14(25)6-7-19(13,2)21(15,23)17(26)10-20(16,3)22(12,28)18(27)11-24/h6-7,9,12,15-17,24,26,28H,4-5,8,10-11H2,1-3H3/t12-,15+,16+,17+,19+,20+,21+,22+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UREBDLICKHMUKA-CXSFZGCWSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "392.467" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "392.19990" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C1=CC(C=C2[C@]1([C@@]3([C@@](CC2)([C@]4([C@](C[C@@H]3O)([C@]([C@@H](C4)C)(C(CO)=O)O)C)[H])[H])F)C)=O" xsd:string [Term] id: CHEBI:41922 name: diethylstilbestrol namespace: chebi_ontology alt_id: CHEBI:41920 alt_id: CHEBI:4531 def: "An olefinic compound that is trans-hex-3-ene in which the hydrogens at positions 3 and 4 have been replaced by p-hydroxyphenyl groups." [] subset: 3_STAR synonym: "(E)-3,4-bis(4-hydroxyphenyl)-3-hexene" RELATED [ChemIDplus] synonym: "(E)-4,4'-(1,2-diethyl-1,2-ethenediyl)bisphenol" RELATED [NIST_Chemistry_WebBook] synonym: "4,4'-(3E)-hex-3-ene-3,4-diyldiphenol" EXACT IUPAC_NAME [IUPAC] synonym: "4,4'-dihydroxy-alpha,beta-diethylstilbene" RELATED [NIST_Chemistry_WebBook] synonym: "alpha,alpha'-diethyl-(E)-4,4'-stilbenediol" RELATED [NIST_Chemistry_WebBook] synonym: "DES" RELATED [KEGG_COMPOUND] synonym: "Diethylstilbestrol" EXACT [KEGG_COMPOUND] synonym: "diethylstilbestrol" RELATED INN [ChEBI] synonym: "diethylstilbestrol" RELATED INN [ChemIDplus] synonym: "diethylstilbestrolum" RELATED INN [ChemIDplus] synonym: "dietilestilbestrol" RELATED INN [ChemIDplus] synonym: "Distilbene" RELATED BRAND_NAME [DrugBank] synonym: "trans-4,4'-(1,2-diethyl-1,2-ethenediyl)bisphenol" RELATED [NIST_Chemistry_WebBook] synonym: "trans-Diethylstilbesterol" RELATED [DrugBank] synonym: "trans-Diethylstilbestrol" RELATED [DrugBank] synonym: "trans-Diethylstilboesterol" RELATED [DrugBank] xref: Beilstein:2056095 {source="ChemIDplus"} xref: CAS:56-53-1 {source="ChemIDplus"} xref: CAS:56-53-1 {source="NIST Chemistry WebBook"} xref: CAS:56-53-1 {source="KEGG COMPOUND"} xref: Drug_Central:875 {source="DrugCentral"} xref: DrugBank:DB00255 xref: FooDB:FDB007498 xref: HMDB:HMDB0014400 xref: KEGG:C07620 xref: KEGG:D00577 xref: MeSH:D004054 xref: NCIt:C433 xref: PDBeChem:DES xref: PMID:12877905 {source="Europe PMC"} xref: PMID:15322263 {source="Europe PMC"} xref: PMID:16665969 {source="Europe PMC"} xref: PMID:19303142 {source="Europe PMC"} xref: PMID:21795073 {source="Europe PMC"} xref: PMID:21852823 {source="Europe PMC"} xref: PMID:24247716 {source="Europe PMC"} xref: PMID:25934356 {source="Europe PMC"} xref: PMID:28461243 {source="Europe PMC"} xref: PMID:29344720 {source="Europe PMC"} xref: PMID:29609831 {source="Europe PMC"} xref: PMID:29658110 {source="Europe PMC"} xref: PMID:30049842 {source="Europe PMC"} xref: PMID:30153466 {source="Europe PMC"} xref: PMID:30594671 {source="Europe PMC"} xref: PMID:30685453 {source="Europe PMC"} xref: PMID:30758926 {source="Europe PMC"} xref: PMID:30866048 {source="Europe PMC"} xref: PMID:31119342 {source="Europe PMC"} xref: PMID:31119346 {source="Europe PMC"} xref: PMID:31247589 {source="Europe PMC"} xref: PMID:31259848 {source="Europe PMC"} xref: PMID:31280197 {source="Europe PMC"} xref: PMID:31283846 {source="Europe PMC"} xref: PMID:31300300 {source="Europe PMC"} xref: PMID:8832405 {source="Europe PMC"} xref: PMID:9202463 {source="Europe PMC"} xref: SNOMEDCT:396026002 xref: Wikipedia:Diethylstilbestrol is_a: CHEBI:33853 ! phenols relationship: has_role CHEBI:35610 ! antineoplastic agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H20O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H20O2/c1-3-17(13-5-9-15(19)10-6-13)18(4-2)14-7-11-16(20)12-8-14/h5-12,19-20H,3-4H2,1-2H3/b18-17+" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RGLYKWWBQGJZGM-ISLYRVAYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "268.35020" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "268.14633" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC\\C(c1ccc(O)cc1)=C(\\CC)c1ccc(O)cc1" xsd:string [Term] id: CHEBI:42017 name: 2,4-dinitrophenol namespace: chebi_ontology alt_id: CHEBI:42013 alt_id: CHEBI:918 def: "A dinitrophenol having the nitro groups at the 2- and 4-positions." [] subset: 3_STAR synonym: "1-hydroxy-2,4-dinitrobenzene" RELATED [ChemIDplus] synonym: "2,4-DINITROPHENOL" EXACT [PDBeChem] synonym: "2,4-Dinitrophenol" EXACT [KEGG_COMPOUND] synonym: "2,4-dinitrophenol" EXACT IUPAC_NAME [IUPAC] synonym: "2,4-DNP" RELATED [NIST_Chemistry_WebBook] synonym: "alpha-dinitrophenol" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:1246142 {source="Beilstein"} xref: CAS:51-28-5 {source="ChemIDplus"} xref: CAS:51-28-5 {source="KEGG COMPOUND"} xref: CAS:51-28-5 {source="NIST Chemistry WebBook"} xref: DrugBank:DB04528 xref: Gmelin:103005 {source="Gmelin"} xref: KEGG:C02496 xref: LINCS:LSM-20951 xref: MeSH:D019297 xref: MetaCyc:CPD-8179 xref: NCIt:C32244 xref: PDBeChem:DNF xref: PMID:10509480 {source="Europe PMC"} xref: PMID:10888472 {source="Europe PMC"} xref: PMID:13532746 {source="Europe PMC"} xref: PMID:15307184 {source="Europe PMC"} xref: PMID:16661637 {source="Europe PMC"} xref: PMID:18505478 {source="Europe PMC"} xref: PMID:25281383 {source="Europe PMC"} xref: PMID:5959282 {source="Europe PMC"} xref: PMID:9129253 {source="Europe PMC"} xref: Reaxys:1246142 {source="Reaxys"} xref: SNOMEDCT:19964006 xref: Wikipedia:2\,4-Dinitrophenol is_a: CHEBI:39352 ! dinitrophenol property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H4N2O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H4N2O5/c9-6-2-1-4(7(10)11)3-5(6)8(12)13/h1-3,9H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UFBJCMHMOXMLKC-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "184.10640" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "184.01202" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Oc1ccc(cc1[N+]([O-])=O)[N+]([O-])=O" xsd:string [Term] id: CHEBI:42025 name: 12-aminododecanoic acid namespace: chebi_ontology def: "An omega-amino fatty acid that is dodecanoic acid in which one of the terminal amino hydrogens has been replaced by an amino group." [] subset: 3_STAR synonym: "12-amino-dodecanoic acid" RELATED [LIPID_MAPS] synonym: "12-aminododecanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "12-Aminolauric acid" RELATED [ChemIDplus] synonym: "omega-aminododecanoic acid" RELATED [ChEBI] synonym: "omega-aminolauric acid" RELATED [ChEBI] xref: AGR:IND43939339 {source="Europe PMC"} xref: AGR:IND86056176 {source="Europe PMC"} xref: CAS:693-57-2 {source="ChemIDplus"} xref: LIPID_MAPS_instance:LMFA01100005 {source="LIPID MAPS"} xref: Patent:JP2006271378 xref: PDBeChem:DOA xref: PMID:15261290 {source="Europe PMC"} xref: PMID:16750613 {source="Europe PMC"} xref: PMID:17256367 {source="Europe PMC"} xref: PMID:17266343 {source="Europe PMC"} xref: PMID:18685217 {source="Europe PMC"} xref: PMID:19420719 {source="Europe PMC"} xref: PMID:21289408 {source="Europe PMC"} xref: PMID:21382714 {source="Europe PMC"} xref: PMID:22593719 {source="Europe PMC"} xref: PMID:22709433 {source="Europe PMC"} xref: PMID:22917277 {source="Europe PMC"} xref: PMID:25912724 {source="Europe PMC"} xref: PMID:26969251 {source="Europe PMC"} xref: PMID:27107110 {source="Europe PMC"} xref: PMID:27541724 {source="Europe PMC"} xref: Reaxys:907502 {source="Reaxys"} is_a: CHEBI:33709 ! amino acid is_a: CHEBI:35366 ! fatty acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12H25NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C12H25NO2/c13-11-9-7-5-3-1-2-4-6-8-10-12(14)15/h1-11,13H2,(H,14,15)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PBLZLIFKVPJDCO-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "215.333" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "215.18853" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(CCCCCCCCCCC(=O)O)N" xsd:string [Term] id: CHEBI:42027 name: 1,2-di-[(9Z,12Z)-octadecadienoyl]-sn-glycero-3-phosphocholine namespace: chebi_ontology alt_id: CHEBI:86129 def: "A 1,2-di-octadecadienoyl-sn-glycero-3-phosphocholine in which the double bonds in each fatty acyl group are at positions 9 and 12 and have Z configuration." [] subset: 3_STAR synonym: "(2R)-2,3-bis[(9Z,12Z)-octadeca-9,12-dienoyloxy]propyl 2-(trimethylammonio)ethyl phosphate" RELATED [PDBeChem] synonym: "(2R)-2,3-bis[(9Z,12Z)-octadeca-9,12-dienoyloxy]propyl 2-(trimethylammonio)ethyl phosphate" RELATED [IUPAC] synonym: "(2R)-2,3-bis[(9Z,12Z)-octadeca-9,12-dienoyloxy]propyl 2-(trimethylazaniumyl)ethyl phosphate" EXACT IUPAC_NAME [IUPAC] synonym: "(2R)-2,3-bis{[(9Z,12Z)-octadeca-9,12-dienoyl]oxy}propyl 2-(trimethylazaniumyl)ethyl phosphate" RELATED [IUPAC] synonym: "1,2-di-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine" RELATED [UniProt] synonym: "1,2-di-O-linoleoyl-sn-glycero-3-phosphocholine" RELATED [ChEBI] synonym: "1,2-DILINOLEOYL-SN-GLYCERO-3-PHOSPHOCHOLINE" RELATED [PDBeChem] synonym: "1,2-dilinoleoyl-sn-glycero-3-phosphocholine" RELATED [HMDB] synonym: "DI-LINOLEOYL-3-SN-PHOSPHATIDYLCHOLINE" RELATED [PDBeChem] synonym: "dilinoleoylphosphatidylcholine" RELATED [ChEBI] synonym: "DL-PC" RELATED [ChEBI] synonym: "DLNPC" RELATED [ChEBI] synonym: "DLPC" RELATED [ChEBI] synonym: "GPCho(18:2/18:2)" RELATED [HMDB] synonym: "GPCho(18:2n6/18:2n6)" RELATED [HMDB] synonym: "GPCho(18:2w6/18:2w6)" RELATED [HMDB] synonym: "L-Dilinoleoyllecithin" RELATED [ChemIDplus] synonym: "PC(18:2(9Z,12Z)/18:2(9Z,12Z))" RELATED [LIPID_MAPS] synonym: "PC(18:2/18:2)" RELATED [HMDB] synonym: "PC(18:2n6/18:2n6)" RELATED [HMDB] synonym: "PC(18:2w6/18:2w6)" RELATED [HMDB] synonym: "Phosphatidylcholine(18:2/18:2)" RELATED [HMDB] synonym: "Phosphatidylcholine(18:2n6/18:2n6)" RELATED [HMDB] synonym: "Phosphatidylcholine(18:2w6/18:2w6)" RELATED [HMDB] xref: CAS:998-06-1 {source="ChemIDplus"} xref: HMDB:HMDB0008138 xref: LIPID_MAPS_instance:LMGP01010937 {source="LIPID MAPS"} xref: PDBeChem:DLP xref: PMID:14561471 {source="Europe PMC"} xref: PMID:20336709 {source="Europe PMC"} xref: PMID:24121081 {source="Europe PMC"} xref: PMID:25063276 {source="Europe PMC"} xref: PMID:25083573 {source="Europe PMC"} xref: PMID:25308534 {source="Europe PMC"} xref: Reaxys:5212188 {source="Reaxys"} is_a: CHEBI:64520 ! phosphatidylcholine 36:4 property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C44H80NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C44H80NO8P/c1-6-8-10-12-14-16-18-20-22-24-26-28-30-32-34-36-43(46)50-40-42(41-52-54(48,49)51-39-38-45(3,4)5)53-44(47)37-35-33-31-29-27-25-23-21-19-17-15-13-11-9-7-2/h14-17,20-23,42H,6-13,18-19,24-41H2,1-5H3/b16-14-,17-15-,22-20-,23-21-/t42-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FVXDQWZBHIXIEJ-LNDKUQBDSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "782.08170" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "781.56216" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCC\\C=C/C\\C=C/CCCCCCCC(=O)OC[C@H](COP([O-])(=O)OCC[N+](C)(C)C)OC(=O)CCCCCCC\\C=C/C\\C=C/CCCCC" xsd:string [Term] id: CHEBI:42111 name: (R)-lactic acid namespace: chebi_ontology alt_id: CHEBI:341 alt_id: CHEBI:42105 alt_id: CHEBI:43701 def: "An optically active form of lactic acid having (R)-configuration." [] subset: 3_STAR synonym: "(-)-lactic acid" RELATED [ChemIDplus] synonym: "(2R)-2-hydroxypropanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "(R)-(-)-lactic acid" RELATED [ChemIDplus] synonym: "D-2-Hydroxypropanoic acid" RELATED [KEGG_COMPOUND] synonym: "D-2-Hydroxypropionic acid" RELATED [KEGG_COMPOUND] synonym: "D-Lactic acid" RELATED [KEGG_COMPOUND] synonym: "D-lactic acid" RELATED [ChemIDplus] synonym: "D-Milchsaeure" RELATED [ChEBI] synonym: "LACTIC ACID" RELATED [PDBeChem] xref: Beilstein:1720252 {source="Beilstein"} xref: CAS:10326-41-7 {source="ChemIDplus"} xref: CAS:10326-41-7 {source="KEGG COMPOUND"} xref: DrugBank:DB03066 xref: DrugBank:DB04398 xref: Gmelin:362718 {source="Gmelin"} xref: HMDB:HMDB0001311 xref: KEGG:C00256 xref: KNApSAcK:C00019549 xref: PDBeChem:LAC xref: PMID:21842515 {source="Europe PMC"} xref: PMID:22127808 {source="Europe PMC"} xref: PMID:22277286 {source="Europe PMC"} xref: PMID:22344644 {source="Europe PMC"} xref: Reaxys:1720252 {source="Reaxys"} xref: Wikipedia:Lactic_acid is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H6O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H6O3/c1-2(4)3(5)6/h2,4H,1H3,(H,5,6)/t2-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JVTAAEKCZFNVCJ-UWTATZPHSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "90.07794" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "90.03169" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[C@@H](O)C(O)=O" xsd:string [Term] id: CHEBI:421707 alt_id: CHEBI:2360 [Term] id: CHEBI:42191 name: EDTA(4-) namespace: chebi_ontology alt_id: CHEBI:30378 def: "A tetracarboxylic acid anion formed by deprotonation of all four carboxy groups in ethylenediaminetetraacetic acid (EDTA)." [] subset: 3_STAR synonym: "(ethane-1,2-diyldinitrilo)tetraacetate" EXACT IUPAC_NAME [IUPAC] synonym: "(ethylenedinitrilo)tetraacetic acid, ion(4-)" RELATED [ChemIDplus] synonym: "2,2',2'',2'''-(ethane-1,2-diyldinitrilo)tetraacetate" RELATED [IUPAC] synonym: "EDTA tetraanion" RELATED [ChEBI] synonym: "EDTA, ion(4-)" RELATED [ChemIDplus] synonym: "ethylenediamine tetraacetic acid tetraanion" RELATED [ChEBI] synonym: "ethylenediaminetetraacetate" RELATED [IUPAC] synonym: "ethylenediaminetetraacetate tetraanion" RELATED [ChEBI] xref: AGR:IND601129247 {source="Europe PMC"} xref: AGR:IND605249959 {source="Europe PMC"} xref: Beilstein:3914756 {source="Beilstein"} xref: CAS:150-43-6 {source="ChemIDplus"} xref: Gmelin:144943 {source="Gmelin"} xref: PMID:11370764 {source="Europe PMC"} xref: PMID:16472851 {source="Europe PMC"} xref: PMID:22116197 {source="Europe PMC"} xref: PMID:22232891 {source="Europe PMC"} xref: PMID:23587055 {source="Europe PMC"} xref: PMID:31704581 {source="Europe PMC"} xref: PMID:32821617 {source="Europe PMC"} xref: PMID:33811400 {source="Europe PMC"} xref: PMID:34152137 {source="Europe PMC"} xref: PMID:34277313 {source="Europe PMC"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H12N2O8" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H16N2O8/c13-7(14)3-11(4-8(15)16)1-2-12(5-9(17)18)6-10(19)20/h1-6H2,(H,13,14)(H,15,16)(H,17,18)(H,19,20)/p-4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KCXVZYZYPLLWCC-UHFFFAOYSA-J" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "288.214" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "288.06156" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-]C(=O)CN(CCN(CC([O-])=O)CC([O-])=O)CC([O-])=O" xsd:string [Term] id: CHEBI:42471 name: forskolin namespace: chebi_ontology def: "A labdane diterpenoid isolated from the Indian Coleus plant." [] subset: 3_STAR synonym: "(3R,4aR,5S,6S,6aS,10S,10aR,10bS)-3-ethenyl-6,10,10b-trihydroxy-3,4a,7,7,10a-pentamethyl-1-oxododecahydro-1H-benzo[f]chromen-5-yl acetate" EXACT IUPAC_NAME [IUPAC] synonym: "7beta-acetoxy-8,13-epoxy-1alpha,6beta,9alpha-trihydroxylabd-14-en-11-one" RELATED [ChemIDplus] synonym: "Coleonol" RELATED [KEGG_COMPOUND] synonym: "Coleonolk" RELATED [KEGG_COMPOUND] synonym: "Colforsin" RELATED [KEGG_COMPOUND] synonym: "colforsin" RELATED INN [ChemIDplus] synonym: "colforsina" RELATED INN [ChemIDplus] synonym: "colforsine" RELATED INN [ChemIDplus] synonym: "colforsinum" RELATED INN [ChemIDplus] synonym: "FORSKOLIN" EXACT [PDBeChem] synonym: "Forskolin" EXACT [KEGG_COMPOUND] xref: Beilstein:4300863 {source="Beilstein"} xref: CAS:66428-89-5 {source="ChemIDplus"} xref: CAS:66575-29-9 {source="ChemIDplus"} xref: CAS:66575-29-9 {source="KEGG COMPOUND"} xref: DrugBank:DB02587 xref: KEGG:C09076 xref: KEGG:D03584 xref: KNApSAcK:C00003416 xref: Patent:DE2557784 xref: Patent:US4088659 xref: Patent:US4476140 xref: PDBeChem:FOK xref: PMID:11816015 {source="Europe PMC"} xref: PMID:12676767 {source="Europe PMC"} xref: PMID:12836714 {source="Europe PMC"} xref: PMID:14691682 {source="Europe PMC"} xref: PMID:15135319 {source="Europe PMC"} xref: PMID:15380183 {source="Europe PMC"} xref: PMID:1547891 {source="Europe PMC"} xref: PMID:15525467 {source="Europe PMC"} xref: PMID:16644480 {source="Europe PMC"} xref: PMID:17570033 {source="Europe PMC"} xref: PMID:19831022 {source="Europe PMC"} xref: PMID:7755573 {source="Europe PMC"} xref: PMID:7875530 {source="Europe PMC"} xref: PMID:7898427 {source="Europe PMC"} xref: PMID:7929167 {source="Europe PMC"} xref: PMID:8489512 {source="Europe PMC"} xref: PMID:8985363 {source="Europe PMC"} xref: PMID:9478958 {source="Europe PMC"} xref: PMID:9828101 {source="Europe PMC"} xref: Reaxys:4300863 {source="Reaxys"} xref: Wikipedia:Forskolin is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:24913 ! isoprenoid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H34O7" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C22H34O7/c1-8-19(5)11-14(25)22(27)20(6)13(24)9-10-18(3,4)16(20)15(26)17(28-12(2)23)21(22,7)29-19/h8,13,15-17,24,26-27H,1,9-11H2,2-7H3/t13-,15-,16-,17-,19-,20-,21+,22-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OHCQJHSOBUTRHG-KGGHGJDLSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "410.50120" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "410.23045" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12[C@H](O)[C@H](OC(C)=O)[C@@]3(C)O[C@](C)(CC(=O)[C@]3(O)[C@@]1(C)[C@@H](O)CCC2(C)C)C=C" xsd:string [Term] id: CHEBI:42491 name: flavone namespace: chebi_ontology alt_id: CHEBI:42486 alt_id: CHEBI:5076 def: "The simplest member of the class of flavones that consists of 4H-chromen-4-one bearing a phenyl substituent at position 2." [] subset: 3_STAR synonym: "2-Phenyl-4-benzopyron" RELATED [KEGG_COMPOUND] synonym: "2-Phenyl-4-chromone" RELATED [KEGG_COMPOUND] synonym: "2-phenyl-4H-1-benzopyran-4-one" RELATED [NIST_Chemistry_WebBook] synonym: "2-phenyl-4H-benzopyran-4-one" RELATED [NIST_Chemistry_WebBook] synonym: "2-PHENYL-4H-CHROMEN-4-ONE" RELATED [PDBeChem] synonym: "2-phenyl-4H-chromen-4-one" EXACT IUPAC_NAME [IUPAC] synonym: "2-phenyl-gamma-benzopyrone" RELATED [NIST_Chemistry_WebBook] synonym: "2-Phenylbenzopyran-4-one" RELATED [HMDB] synonym: "2-phenylchromone" RELATED [NIST_Chemistry_WebBook] synonym: "Flavon" RELATED [ChEBI] synonym: "Flavone" EXACT [KEGG_COMPOUND] synonym: "flavone" EXACT [UniProt] xref: Beilstein:157598 {source="Beilstein"} xref: CAS:525-82-6 {source="NIST Chemistry WebBook"} xref: CAS:525-82-6 {source="ChemIDplus"} xref: CAS:525-82-6 {source="KEGG COMPOUND"} xref: DrugBank:DB07776 xref: Gmelin:1224858 {source="Gmelin"} xref: HMDB:HMDB0003075 xref: KEGG:C10043 xref: KEGG:C15608 xref: KNApSAcK:C00001040 xref: LIPID_MAPS_instance:LMPK12110097 {source="LIPID MAPS"} xref: MetaCyc:CPD-8485 xref: PDBeChem:FLN xref: PMID:11370674 {source="Europe PMC"} xref: PMID:12063116 {source="Europe PMC"} xref: PMID:17347140 {source="Europe PMC"} xref: PMID:18596412 {source="Europe PMC"} xref: Reaxys:157598 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C15H10O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C15H10O2/c16-13-10-15(11-6-2-1-3-7-11)17-14-9-5-4-8-12(13)14/h1-10H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VHBFFQKBGNRLFZ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "222.23870" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "222.06808" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O=c1cc(oc2ccccc12)-c1ccccc1" xsd:string [Term] id: CHEBI:42549 name: 3-(5-fluorouracil-1-yl)-L-alanine namespace: chebi_ontology def: "An alanine derivative that is L-alanine bearing a 5-fluorouracil-1-yl substituent at position 3. A more potent and selective AMPA receptor agonist (at hGluR1 and hGluR2) than AMPA itself (Ki = 14.7, 25.1, and 1820 nM for hGluR1, hGluR2 and hGluR5 respectively)." [] subset: 3_STAR synonym: "(2S)-2-amino-3-(5-fluoro-2,4-dioxo-1,2,3,4-tetrahydropyrimidin-1-yl)propanoic acid" RELATED [DrugBank] synonym: "(S)-(-)-5-fluorowillardiine" RELATED [ChEBI] synonym: "(S)-alpha-Amino-5-fluoro-3,4-dihydro-2,4-dioxo-1(2H)-pyrimmidinepropanoic acid" RELATED [ChemIDplus] synonym: "(S)-F-Willardiine" RELATED [KEGG_COMPOUND] synonym: "2-AMINO-3-(5-FLUORO-2,4-DIOXO-3,4-DIHYDRO-2H-PYRIMIDIN-1-YL)-PROPIONIC ACID" RELATED [PDBeChem] synonym: "3-(5-fluoro-2,4-dioxo-3,4-dihydropyrimidin-1(2H)-yl)-L-alanine" EXACT IUPAC_NAME [IUPAC] synonym: "5-Fluorowillardiine" RELATED [ChemIDplus] xref: CAS:140187-23-1 {source="ChemIDplus"} xref: DrugBank:DB02966 xref: KEGG:C13671 xref: PDBeChem:FWD xref: PMID:11041846 {source="Europe PMC"} xref: PMID:11487516 {source="Europe PMC"} xref: PMID:1371315 {source="Europe PMC"} xref: PMID:16256076 {source="Europe PMC"} xref: PMID:7566471 {source="Europe PMC"} xref: PMID:8640342 {source="Europe PMC"} xref: PMID:8957243 {source="Europe PMC"} xref: Reaxys:7817206 {source="Reaxys"} xref: Wikipedia:5-Fluorowillardiine is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H8FN3O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H8FN3O4/c8-3-1-11(2-4(9)6(13)14)7(15)10-5(3)12/h1,4H,2,9H2,(H,13,14)(H,10,12,15)/t4-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DBWPFHJYSTVBCZ-BYPYZUCNSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "217.15450" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "217.04988" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "N[C@@H](Cn1cc(F)c(=O)[nH]c1=O)C(O)=O" xsd:string [Term] id: CHEBI:42567 name: fisetin namespace: chebi_ontology alt_id: CHEBI:42562 alt_id: CHEBI:5064 def: "A 7-hydroxyflavonol with additional hydroxy groups at positions 3, 3' and 4'." [] subset: 3_STAR synonym: "2-(3,4-Dihydroxyphenyl)-3,7-dihydroxy-4H-1-benzopyran-4-one" RELATED [ChemIDplus] synonym: "2-(3,4-dihydroxyphenyl)-3,7-dihydroxy-4H-chromen-4-one" EXACT IUPAC_NAME [IUPAC] synonym: "3,3',4',7-Tetrahydroxyflavone" RELATED [ChemIDplus] synonym: "3,7,3',4'-TETRAHYDROXYFLAVONE" RELATED [PDBeChem] synonym: "5-Desoxyquercetin" RELATED [ChemIDplus] synonym: "7,3',4'-Trihydroxyflavonol" RELATED [KEGG_COMPOUND] synonym: "Fisetin" EXACT [KEGG_COMPOUND] xref: Beilstein:292829 {source="Beilstein"} xref: CAS:528-48-3 {source="ChemIDplus"} xref: CAS:528-48-3 {source="KEGG COMPOUND"} xref: Chemspider:4444933 xref: DrugBank:DB07795 xref: KEGG:C10041 xref: KNApSAcK:C00004579 xref: LINCS:LSM-6579 xref: LIPID_MAPS_instance:LMPK12111566 {source="LIPID MAPS"} xref: MetaCyc:CPD-13503 xref: Patent:CN102028680 xref: Patent:US2010010078 xref: PDBeChem:FSE xref: PMID:12939617 {source="Europe PMC"} xref: PMID:15254550 {source="Europe PMC"} xref: PMID:15781213 {source="Europe PMC"} xref: PMID:17551714 {source="Europe PMC"} xref: PMID:22842629 {source="Europe PMC"} xref: PMID:23054013 {source="Europe PMC"} xref: PMID:23121441 {source="Europe PMC"} xref: PMID:23277230 {source="Europe PMC"} xref: Reaxys:292829 {source="Reaxys"} xref: Wikipedia:Fisetin is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C15H10O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C15H10O6/c16-8-2-3-9-12(6-8)21-15(14(20)13(9)19)7-1-4-10(17)11(18)5-7/h1-6,16-18,20H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XHEFDIBZLJXQHF-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "286.23630" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "286.04774" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Oc1ccc2c(c1)oc(-c1ccc(O)c(O)c1)c(O)c2=O" xsd:string [Term] id: CHEBI:42588 name: 4-hydroxyphenyl retinamide namespace: chebi_ontology def: "A retinoid obtained by formal condensation of the carboxy group of all-trans retinoic acid and the anilino group of 4-hydroxyaniline. Synthetic retinoid agonist. Antiproliferative, antioxidant and anticancer agent with a long half-life in vivo. Apoptotic effects appear to be mediated by a mechanism distinct from that of 'classical' retinoids." [] subset: 3_STAR synonym: "15-[(4-hydroxyphenyl)amino]retinal" EXACT IUPAC_NAME [IUPAC] synonym: "4-HPR" RELATED [DrugBank] synonym: "4-hydroxy(phenyl)retinamide" RELATED [DrugBank] synonym: "all-trans-4'-Hydroxyretinanilide" RELATED [ChemIDplus] synonym: "fenretinida" RELATED INN [ChemIDplus] synonym: "fenretinide" RELATED INN [KEGG_DRUG] synonym: "fenretinidum" RELATED INN [ChemIDplus] synonym: "N-(4-HYDROXYPHENYL)ALL-TRANS RETINAMIDE" RELATED [PDBeChem] synonym: "N-(4-hydroxyphenyl)all-trans retinamide" RELATED [DrugBank] synonym: "N-(4-Hydroxyphenyl)retinamide" RELATED [ChemIDplus] xref: CAS:65646-68-6 {source="ChemIDplus"} xref: ChEMBL:100853 xref: ChemIDplus:65646-68-6 xref: CiteXplore:20878269 xref: CiteXplore:20978709 xref: CiteXplore:21241664 xref: CiteXplore:21319187 xref: CiteXplore:21674264 xref: CiteXplore:21964808 xref: CiteXplore:22094120 xref: CiteXplore:22162577 xref: CiteXplore:22183330 xref: CiteXplore:22221098 xref: CiteXplore:22280430 xref: CiteXplore:22323082 xref: CiteXplore:22350416 xref: CiteXplore:22382323 xref: CiteXplore:22387538 xref: DrugBank:DB05076 xref: KEGG DRUG:D04162 xref: KEGG:D04162 xref: MeSH:D017313 xref: NCIt:C1098 xref: PDBeChem:FEN xref: PMID:20878269 {source="Europe PMC"} xref: PMID:20978709 {source="Europe PMC"} xref: PMID:21241664 {source="Europe PMC"} xref: PMID:21319187 {source="Europe PMC"} xref: PMID:21674264 {source="Europe PMC"} xref: PMID:21964808 {source="Europe PMC"} xref: PMID:22094120 {source="Europe PMC"} xref: PMID:22162577 {source="Europe PMC"} xref: PMID:22183330 {source="Europe PMC"} xref: PMID:22221098 {source="Europe PMC"} xref: PMID:22280430 {source="Europe PMC"} xref: PMID:22323082 {source="Europe PMC"} xref: PMID:22350416 {source="Europe PMC"} xref: PMID:22382323 {source="Europe PMC"} xref: PMID:22387538 {source="Europe PMC"} xref: Reaxys:5769490 {source="Reaxys"} is_a: CHEBI:24913 ! isoprenoid is_a: EFO:0004417 ! amide relationship: has_role CHEBI:35610 ! antineoplastic agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C26H33NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C26H33NO2/c1-19(11-16-24-21(3)10-7-17-26(24,4)5)8-6-9-20(2)18-25(29)27-22-12-14-23(28)15-13-22/h6,8-9,11-16,18,28H,7,10,17H2,1-5H3,(H,27,29)/b9-6+,16-11+,19-8+,20-18+" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "AKJHMTWEGVYYSE-FXILSDISSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "391.54570" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "391.25113" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(\\C=C\\C1=C(C)CCCC1(C)C)=C/C=C/C(C)=C/C(=O)Nc1ccc(O)cc1" xsd:string [Term] id: CHEBI:42638 name: flufenamic acid namespace: chebi_ontology alt_id: CHEBI:31619 alt_id: CHEBI:42631 def: "An aromatic amino acid consisting of anthranilic acid carrying an N-(trifluoromethyl)phenyl substituent. An analgesic and anti-inflammatory, it is used in rheumatic disorders." [] subset: 3_STAR synonym: "2-[3-(trifluoromethyl)anilino]benzoic acid" RELATED [NIST_Chemistry_WebBook] synonym: "2-[[3-(TRIFLUOROMETHYL)PHENYL]AMINO] BENZOIC ACID" RELATED [PDBeChem] synonym: "2-{[3-(trifluoromethyl)phenyl]amino}benzoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "3'-trifluoromethyldiphenylamine-2-carboxylic acid" RELATED [ChemIDplus] synonym: "Achless" RELATED BRAND_NAME [ChemIDplus] synonym: "acide flufenamique" RELATED INN [ChemIDplus] synonym: "acido flufenamico" RELATED INN [ChemIDplus] synonym: "acidum flufenamicum" RELATED INN [ChemIDplus] synonym: "FFA" RELATED [KEGG_COMPOUND] synonym: "Flufenamic acid" EXACT [KEGG_COMPOUND] synonym: "flufenamic acid" RELATED INN [ChemIDplus] synonym: "Flufenaminsaeure" RELATED [ChEBI] synonym: "fluphenamic acid" RELATED [ChemIDplus] synonym: "N-(3-trifluoromethylphenyl)anthranilic acid" RELATED [ChemIDplus] synonym: "N-(alpha,alpha,alpha-trifluoro-m-tolyl)anthranilic acid" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:1996069 {source="ChemIDplus"} xref: CAS:530-78-9 {source="KEGG COMPOUND"} xref: CAS:530-78-9 {source="ChemIDplus"} xref: CAS:530-78-9 {source="NIST Chemistry WebBook"} xref: ChEMBL:129860 xref: ChemIDplus:1996069 xref: ChemIDplus:530-78-9 xref: Drug_Central:1193 {source="DrugCentral"} xref: DrugBank:DB02266 xref: Gmelin:1327188 {source="Gmelin"} xref: KEGG COMPOUND:530-78-9 xref: KEGG COMPOUND:C13038 xref: KEGG DRUG:D01581 xref: KEGG:C13038 xref: KEGG:D01581 xref: LINCS:LSM-2973 xref: MeSH:D005439 xref: NIST Chemistry WebBook:530-78-9 xref: PDBeChem:FLF xref: PMID:11093589 {source="Europe PMC"} xref: PMID:15275834 {source="Europe PMC"} xref: PMID:18436631 {source="Europe PMC"} xref: PMID:20589945 {source="Europe PMC"} xref: PMID:28166217 {source="Europe PMC"} xref: Reaxys:1996069 {source="Reaxys"} xref: Wikipedia:Flufenamic_acid is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C14H10F3NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C14H10F3NO2/c15-14(16,17)9-4-3-5-10(8-9)18-12-7-2-1-6-11(12)13(19)20/h1-8,18H,(H,19,20)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LPEPZBJOKDYZAD-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "281.22995" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "281.06636" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)c1ccccc1Nc1cccc(c1)C(F)(F)F" xsd:string [Term] id: CHEBI:42797 name: gabapentin namespace: chebi_ontology alt_id: CHEBI:5237 def: "A gamma-amino acid that is cyclohexane substituted at position 1 by aminomethyl and carboxymethyl groups. Used for treatment of neuropathic pain and restless legs syndrome." [] subset: 3_STAR synonym: "1-(Aminomethyl)cyclohexaneacetic acid" RELATED [ChemIDplus] synonym: "[1-(aminomethyl)cyclohexyl]acetic acid" EXACT IUPAC_NAME [IUPAC] synonym: "gabapentin" RELATED INN [KEGG_DRUG] synonym: "gabapentina" RELATED INN [WHO_MedNet] synonym: "gabapentine" RELATED INN [DrugBank] synonym: "gabapentinum" RELATED INN [DrugBank] synonym: "Neurontin" RELATED BRAND_NAME [DrugBank] xref: Beilstein:2359739 {source="ChemIDplus"} xref: CAS:60142-96-3 {source="KEGG DRUG"} xref: CAS:60142-96-3 {source="ChemIDplus"} xref: Drug_Central:1264 {source="DrugCentral"} xref: DrugBank:DB00996 xref: HMDB:HMDB0005015 xref: KEGG:D00332 xref: LINCS:LSM-5716 xref: Patent:EP1140793 xref: Patent:US2008103334 xref: Patent:US2008269326 xref: Patent:US2009043126 xref: Patent:US2009292138 xref: Patent:US2012046272 xref: Patent:WO2005037784 xref: Patent:WO2008060572 xref: Patent:WO2010023694 xref: PDBeChem:GBN xref: PMID:22048285 {source="Europe PMC"} xref: PMID:22144034 {source="Europe PMC"} xref: PMID:22240839 {source="Europe PMC"} xref: PMID:22240859 {source="Europe PMC"} xref: PMID:22279347 {source="Europe PMC"} xref: PMID:22296650 {source="Europe PMC"} xref: PMID:22345405 {source="Europe PMC"} xref: PMID:22352861 {source="Europe PMC"} xref: PMID:22419014 {source="Europe PMC"} xref: PMID:22422817 {source="Europe PMC"} xref: PMID:22464746 {source="Europe PMC"} xref: PMID:22467888 {source="Europe PMC"} xref: PMID:22556282 {source="Europe PMC"} xref: PMID:22575516 {source="Europe PMC"} xref: PMID:22612015 {source="Europe PMC"} xref: PMID:22865488 {source="Europe PMC"} xref: PMID:22888801 {source="Europe PMC"} xref: PMID:22934077 {source="Europe PMC"} xref: PMID:22946876 {source="Europe PMC"} xref: PMID:23018586 {source="Europe PMC"} xref: PMID:23053645 {source="Europe PMC"} xref: Reaxys:2359739 {source="Reaxys"} xref: VSDB:2975 xref: Wikipedia:Gabapentin is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H17NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H17NO2/c10-7-9(6-8(11)12)4-2-1-3-5-9/h1-7,10H2,(H,11,12)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UGJMXCAKCUNAIE-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "171.23680" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "171.12593" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NCC1(CCCCC1)CC(O)=O" xsd:string [Term] id: CHEBI:42839 name: 3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine namespace: chebi_ontology def: "Puromycin derivative that lacks the methoxyphenylalanyl group on the amine of the sugar ring." [] subset: 3_STAR synonym: "3'-amino-3'-deoxy-N,N-dimethyladenosine" EXACT IUPAC_NAME [IUPAC] synonym: "3'-Amino-3'-deoxy-N6,N6-dimethyladenosine" RELATED [ChemIDplus] synonym: "6-Dimethylamino-9-(3'-ribosylamine)purine" RELATED [ChemIDplus] synonym: "Puromycin aminonucleoside" RELATED [ChemIDplus] synonym: "Stylomycin aminonucleoside" RELATED [ChemIDplus] xref: Beilstein:93902 {source="Beilstein"} xref: CAS:58-60-6 {source="ChemIDplus"} xref: PMID:323854 {source="Europe PMC"} is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12H18N6O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C12H18N6O3/c1-17(2)10-8-11(15-4-14-10)18(5-16-8)12-9(20)7(13)6(3-19)21-12/h4-7,9,12,19-20H,3,13H2,1-2H3/t6-,7-,9-,12-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RYSMHWILUNYBFW-GRIPGOBMSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "294.30996" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "294.14404" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN(C)c1ncnc2n(cnc12)[C@@H]1O[C@H](CO)[C@@H](N)[C@H]1O" xsd:string [Term] id: CHEBI:42977 name: 25-hydroxycholesterol namespace: chebi_ontology alt_id: CHEBI:37616 alt_id: CHEBI:42972 subset: 3_STAR synonym: "25-Hydroxycholesterol" EXACT [KEGG_COMPOUND] synonym: "25-hydroxycholesterol" EXACT [UniProt] synonym: "5-Cholestene-3beta,25-diol" RELATED [ChemIDplus] synonym: "Cholest-5-ene-3beta,25-diol" RELATED [KEGG_COMPOUND] synonym: "cholest-5-ene-3beta,25-diol" EXACT IUPAC_NAME [IUPAC] xref: CAS:2140-46-7 {source="ChemIDplus"} xref: CAS:2140-46-7 {source="KEGG COMPOUND"} xref: KEGG:C15519 xref: LIPID_MAPS_instance:LMST01010018 {source="LIPID MAPS"} is_a: CHEBI:15889 ! sterol property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C27H46O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C27H46O2/c1-18(7-6-14-25(2,3)29)22-10-11-23-21-9-8-19-17-20(28)12-15-26(19,4)24(21)13-16-27(22,23)5/h8,18,20-24,28-29H,6-7,9-17H2,1-5H3/t18-,20+,21+,22-,23+,24+,26+,27-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "INBGSXNNRGWLJU-ZHHJOTBYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "402.65294" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "402.34978" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]1(CC[C@@]2([H])[C@]3([H])CC=C4C[C@@H](O)CC[C@]4(C)[C@@]3([H])CC[C@]12C)[C@H](C)CCCC(C)(C)O" xsd:string [Term] id: CHEBI:4315 name: danazol namespace: chebi_ontology alt_id: CHEBI:505364 alt_id: CHEBI:554019 subset: 3_STAR synonym: "[1,2]oxazolo[4',5':2,3]-17alpha-pregn-4-en-20-yn-17-ol" EXACT IUPAC_NAME [IUPAC] synonym: "Cyclomen" RELATED BRAND_NAME [DrugBank] synonym: "danazol" RELATED INN [KEGG_DRUG] synonym: "danazolum" RELATED INN [ChemIDplus] synonym: "Danocrine" RELATED BRAND_NAME [DrugBank] xref: Beilstein:4851114 {source="Beilstein"} xref: CAS:17230-88-5 {source="ChemIDplus"} xref: Chemspider:26436 xref: Drug_Central:779 {source="DrugCentral"} xref: DrugBank:DB01406 xref: KEGG:D00289 xref: Patent:GB905844 xref: Patent:US3135743 xref: PMID:17929794 {source="ChEMBL"} xref: PMID:18834112 {source="ChEMBL"} xref: PMID:24134630 {source="Europe PMC"} xref: PMID:27626530 {source="Europe PMC"} xref: PMID:34462405 {source="Europe PMC"} xref: Wikipedia:Danazol is_a: CHEBI:35341 ! steroid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H27NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C22H27NO2/c1-4-22(24)10-8-18-16-6-5-15-11-19-14(13-23-25-19)12-20(15,2)17(16)7-9-21(18,22)3/h1,11,13,16-18,24H,5-10,12H2,2-3H3/t16-,17+,18+,20+,21+,22+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "POZRVZJJTULAOH-LHZXLZLDSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "337.45532" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "337.20418" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12CCC3=Cc4oncc4C[C@]3(C)[C@@]1([H])CC[C@@]1(C)[C@@]2([H])CC[C@@]1(O)C#C" xsd:string [Term] id: CHEBI:4317 name: dantrolene namespace: chebi_ontology def: "The hydrazone resulting from the formal condensation of 5-(4-nitrophenyl)furfural with 1-aminohydantoin. A ryanodine receptor antagonist used for the relief of chronic severe spasticity and malignant hyperthermia." [] subset: 3_STAR synonym: "1-((5-(p-nitrophenyl)furfurylidene)amino)hydantoin" RELATED [ChemIDplus] synonym: "1-({[5-(4-nitrophenyl)furan-2-yl]methylidene}amino)imidazolidine-2,4-dione" EXACT IUPAC_NAME [IUPAC] synonym: "Dantrolene" EXACT [KEGG_COMPOUND] synonym: "dantrolene" RELATED INN [ChemIDplus] synonym: "dantroleno" RELATED INN [ChemIDplus] synonym: "dantrolenum" RELATED INN [ChemIDplus] xref: Beilstein:705189 {source="Beilstein"} xref: CAS:7261-97-4 {source="ChemIDplus"} xref: CAS:7261-97-4 {source="KEGG COMPOUND"} xref: DrugBank:DB01219 xref: KEGG:C06939 xref: KEGG:D02347 xref: LINCS:LSM-3823 xref: Patent:NL6612588 xref: Patent:US3415821 xref: PMID:11934664 {source="Europe PMC"} xref: PMID:18696266 {source="Europe PMC"} xref: PMID:29921212 {source="Europe PMC"} xref: PMID:30776519 {source="Europe PMC"} xref: PMID:30948257 {source="Europe PMC"} xref: PMID:31337666 {source="Europe PMC"} xref: PMID:31478931 {source="Europe PMC"} xref: PMID:31633504 {source="Europe PMC"} xref: PMID:31775359 {source="Europe PMC"} xref: PMID:31851793 {source="Europe PMC"} xref: PMID:31901380 {source="Europe PMC"} xref: PMID:31906750 {source="Europe PMC"} xref: PMID:31918212 {source="Europe PMC"} xref: PMID:32016838 {source="Europe PMC"} xref: PMID:32060500 {source="Europe PMC"} xref: PMID:8797628 {source="Europe PMC"} is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C14H10N4O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C14H10N4O5/c19-13-8-17(14(20)16-13)15-7-11-5-6-12(23-11)9-1-3-10(4-2-9)18(21)22/h1-7H,8H2,(H,16,19,20)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OZOMQRBLCMDCEG-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "314.257" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "314.06512" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C1(NC(=O)CN1N=C(C=2OC(C=3C=CC([N+]([O-])=O)=CC3)=CC2)[H])=O" xsd:string [Term] id: CHEBI:43355 name: indoxyl sulfate namespace: chebi_ontology def: "An aryl sulfate that is indoxyl in which the hydroxyl hydrogen is substituted by a sulfo group." [] subset: 3_STAR synonym: "1H-indol-3-yl hydrogen sulfate" EXACT IUPAC_NAME [IUPAC] synonym: "3-indolyl hydrogen sulfate" RELATED [ChEBI] synonym: "3-indolyl sulfate" RELATED [ChEBI] synonym: "3-Indoxyl sulfate" RELATED [ChemIDplus] synonym: "3-Indoxylsulfuric acid" RELATED [ChemIDplus] synonym: "Indican" RELATED [ChemIDplus] synonym: "indol-3-yl hydrogen sulfate" RELATED [ChEBI] synonym: "Indol-3-yl sulfate" RELATED [HMDB] synonym: "indol-3-yl sulphate" RELATED [HMDB] synonym: "Indoxyl sulfic acid" RELATED [HMDB] synonym: "indoxyl sulphate" RELATED [ChEBI] synonym: "indoxyl-3-sulphate" RELATED [ChEBI] synonym: "Indoxylsulfuric acid" RELATED [ChemIDplus] xref: CAS:487-94-5 {source="ChemIDplus"} xref: HMDB:HMDB0000682 xref: PDBeChem:IOS xref: PMID:17190852 {source="Europe PMC"} xref: PMID:22056374 {source="Europe PMC"} xref: PMID:22200421 {source="Europe PMC"} xref: PMID:22200422 {source="Europe PMC"} xref: PMID:22200425 {source="Europe PMC"} xref: PMID:22200426 {source="Europe PMC"} xref: PMID:22213462 {source="Europe PMC"} xref: PMID:22231736 {source="Europe PMC"} xref: PMID:22237753 {source="Europe PMC"} xref: PMID:22318422 {source="Europe PMC"} xref: PMID:22326498 {source="Europe PMC"} xref: PMID:22389425 {source="Europe PMC"} xref: PMID:22447217 {source="Europe PMC"} xref: PMID:22483453 {source="Europe PMC"} xref: PMID:22490877 {source="Europe PMC"} xref: PMID:22513409 {source="Europe PMC"} xref: Reaxys:188887 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H7NO4S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H7NO4S/c10-14(11,12)13-8-5-9-7-4-2-1-3-6(7)8/h1-5,9H,(H,10,11,12)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BXFFHSIDQOFMLE-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "213.21000" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "213.00958" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OS(=O)(=O)Oc1c[nH]c2ccccc12" xsd:string [Term] id: CHEBI:43415 name: dexibuprofen namespace: chebi_ontology alt_id: CHEBI:35706 alt_id: CHEBI:43412 subset: 3_STAR synonym: "(+)-(S)-p-isobutylhydratropic acid" RELATED [ChemIDplus] synonym: "(2S)-2-(4-isobutylphenyl)propanoic acid" RELATED [ChEBI] synonym: "(2S)-2-[4-(2-methylpropyl)phenyl]propanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "(S)-alpha-methyl-4-(2-methylpropyl)benzeneacetic acid" RELATED [ChemIDplus] synonym: "d-ibuproten" RELATED [ChemIDplus] synonym: "Dexibuprofen" EXACT [ChemIDplus] synonym: "IBUPROFEN" RELATED [PDBeChem] xref: Beilstein:3590020 {source="Beilstein"} xref: Beilstein:3590022 {source="Beilstein"} xref: CAS:51146-56-6 {source="ChemIDplus"} xref: ChEMBL:417909 xref: ChemIDplus:51146-56-6 xref: Drug_Central:3851 {source="DrugCentral"} xref: KEGG DRUG:D03715 xref: KEGG:D03715 xref: LINCS:LSM-2323 xref: MeSH:C539402 xref: NCIt:C561 xref: PDBeChem:IBP xref: SNOMEDCT:418027007 xref: SNOMEDCT:418868002 is_a: CHEBI:5855 ! ibuprofen property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C13H18O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C13H18O2/c1-9(2)8-11-4-6-12(7-5-11)10(3)13(14)15/h4-7,9-10H,8H2,1-3H3,(H,14,15)/t10-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HEFNNWSXXWATRW-JTQLQIEISA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "206.28082" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "206.13068" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)Cc1ccc(cc1)[C@H](C)C(O)=O" xsd:string [Term] id: CHEBI:4356 name: desferrioxamine B namespace: chebi_ontology def: "An acyclic desferrioxamine that is butanedioic acid in which one of the carboxy groups undergoes formal condensation with the primary amino group of N-(5-aminopentyl)-N-hydroxyacetamide and the second carboxy group undergoes formal condensation with the hydroxyamino group of N(1)-(5-aminopentyl)-N(1)-hydroxy-N(4)-[5-(hydroxyamino)pentyl]butanediamide. It is a siderophore native to Streptomyces pilosus biosynthesised by the DesABCD enzyme cluster as a high affinity Fe(III) chelator." [] subset: 3_STAR synonym: "Deferoxamin" RELATED [DrugBank] synonym: "deferoxamina" RELATED INN [WHO_MedNet] synonym: "deferoxamine" RELATED INN [WHO_MedNet] synonym: "deferoxaminum" RELATED INN [WHO_MedNet] synonym: "Deferrioxamine" RELATED [DrugBank] synonym: "deferrioxamine B" RELATED [ChemIDplus] synonym: "Desferrioxamine" RELATED [DrugBank] synonym: "desferrioxamine-B" RELATED [ChEBI] synonym: "DFO" RELATED [DrugBank] synonym: "DFOB" RELATED [ChEBI] synonym: "N'-{5-[acetyl(hydroxy)amino]pentyl}-N-(5-{4-[(5-aminopentyl)(hydroxy)amino]-4-oxobutanamido}pentyl)-N-hydroxybutanediamide" EXACT IUPAC_NAME [IUPAC] synonym: "N(4)-{5-[acetyl(hydroxy)amino]pentyl}-N(1)-(5-{4-[(5-aminopentyl)(hydroxy)amino]-4-oxobutanamido}pentyl)-N(1)-hydroxybutanediamide" RELATED [IUPAC] xref: Beilstein:2514118 {source="Beilstein"} xref: CAS:70-51-9 {source="NIST Chemistry WebBook"} xref: CAS:70-51-9 {source="ChemIDplus"} xref: Chemspider:2867 xref: Drug_Central:792 {source="DrugCentral"} xref: DrugBank:DB00746 xref: HMDB:HMDB0014884 xref: KEGG:C06940 xref: KEGG:D03670 xref: LINCS:LSM-6541 xref: LIPID_MAPS_instance:LMFA08020169 {source="LIPID MAPS"} xref: Patent:BE609053 xref: PMID:11239825 {source="Europe PMC"} xref: PMID:18536609 {source="Europe PMC"} xref: PMID:28156129 {source="Europe PMC"} xref: PMID:28285915 {source="Europe PMC"} xref: PMID:28318697 {source="Europe PMC"} xref: PMID:28455567 {source="Europe PMC"} xref: PMID:29182270 {source="Europe PMC"} xref: PMID:30701380 {source="Europe PMC"} xref: PMID:31035197 {source="Europe PMC"} xref: PMID:31229836 {source="Europe PMC"} xref: PMID:31846315 {source="Europe PMC"} xref: PMID:32039778 {source="Europe PMC"} xref: PMID:32572744 {source="Europe PMC"} xref: PMID:32734456 {source="Europe PMC"} xref: PMID:32856363 {source="Europe PMC"} xref: PMID:33784308 {source="Europe PMC"} xref: Wikipedia:Deferoxamine is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C25H48N6O8" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C25H48N6O8/c1-21(32)29(37)18-9-3-6-16-27-22(33)12-14-25(36)31(39)20-10-4-7-17-28-23(34)11-13-24(35)30(38)19-8-2-5-15-26/h37-39H,2-20,26H2,1H3,(H,27,33)(H,28,34)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UBQYURCVBFRUQT-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "560.693" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "560.35336" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(=O)N(O)CCCCCNC(=O)CCC(=O)N(O)CCCCCNC(=O)CCC(=O)N(O)CCCCCN" xsd:string [Term] id: CHEBI:43580 name: 3-(1H-indol-3-yl)propanoic acid namespace: chebi_ontology def: "An indol-3-yl carboxylic acid that is propionic acid substituted by a 1H-indol-3-yl group at position 3." [] subset: 3_STAR synonym: "3-(1H-indol-3-yl)propanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "beta-(3-Indolyl)propionic acid" RELATED [ChemIDplus] synonym: "Indole-3-propionic acid" RELATED [ChemIDplus] synonym: "Indolepropionic acid" RELATED [ChemIDplus] xref: CAS:830-96-6 {source="NIST Chemistry WebBook"} xref: CAS:830-96-6 {source="ChemIDplus"} xref: HMDB:HMDB0002302 xref: PDBeChem:IOP xref: PMID:12212784 {source="Europe PMC"} xref: PMID:14606996 {source="Europe PMC"} xref: PMID:21307383 {source="Europe PMC"} xref: PMID:22885049 {source="Europe PMC"} xref: PMID:24510403 {source="Europe PMC"} xref: Reaxys:147733 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C11H11NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C11H11NO2/c13-11(14)6-5-8-7-12-10-4-2-1-3-9(8)10/h1-4,7,12H,5-6H2,(H,13,14)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GOLXRNDWAUTYKT-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "189.21050" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "189.07898" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)CCc1c[nH]c2ccccc12" xsd:string [Term] id: CHEBI:43755 name: lisinopril namespace: chebi_ontology alt_id: CHEBI:43750 subset: 3_STAR synonym: "(S)-1-(N(2)-(1-carboxy-3-phenylpropyl)-L-lysyl)-L-proline" RELATED [ChemIDplus] synonym: "[N2-[(S)-1-CARBOXY-3-PHENYLPROPYL]-L-LYSYL-L-PROLINE" RELATED [PDBeChem] synonym: "lisinopril anhydrous" RELATED [ChemIDplus] synonym: "N(2)-[(1S)-1-carboxy-3-phenylpropyl]-L-lysyl-L-proline" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:4276619 {source="Beilstein"} xref: CAS:76547-98-3 {source="ChemIDplus"} xref: Drug_Central:1587 {source="DrugCentral"} xref: DrugBank:DB00722 xref: LINCS:LSM-5756 xref: MeSH:D017706 xref: NCIt:C29159 xref: PDBeChem:LPR xref: SNOMEDCT:108575001 xref: SNOMEDCT:386873009 xref: Wikipedia:Lisinopril is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:35457 ! EC 3.4.15.1 (peptidyl-dipeptidase A) inhibitor relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C21H31N3O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C21H31N3O5/c22-13-5-4-9-16(19(25)24-14-6-10-18(24)21(28)29)23-17(20(26)27)12-11-15-7-2-1-3-8-15/h1-3,7-8,16-18,23H,4-6,9-14,22H2,(H,26,27)(H,28,29)/t16-,17-,18-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RLAWWYSOJDYHDC-BZSNNMDCSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "405.48790" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "405.22637" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NCCCC[C@H](N[C@@H](CCc1ccccc1)C(O)=O)C(=O)N1CCC[C@H]1C(O)=O" xsd:string [Term] id: CHEBI:43876 name: (S)-alpha-methyl-4-carboxyphenylglycine namespace: chebi_ontology def: "A non-proteinogenic alpha-amino acid that is alanine in which the alpha-hydrogen is replaced by a 4-carboxyphenyl group (the S-enantiomer). It is a non-selective group I/group II metabotropic glutamate receptor (mGluR) antagonist." [] subset: 3_STAR synonym: "(+)-alpha-methyl-4-carboxyphenylglycine" RELATED [ChEBI] synonym: "(+)-MCPG" RELATED [ChEBI] synonym: "(S)-(+)-alpha-amino-4-carboxy-2-methylbenzeneacetic" RELATED [ChEBI] synonym: "(S)-(+)-alpha-methyl-4-carboxyphenylglycine" RELATED [ChEBI] synonym: "(S)-(ALPHA)-METHYL-4-CARBOXYPHENYLGLYCINE" RELATED [PDBeChem] synonym: "(S)-a-methyl-4-carboxyphenylglycine" RELATED [ChEBI] synonym: "(S)-MCPG" RELATED [ChEBI] synonym: "4-[(1S)-1-amino-1-carboxyethyl]benzoic acid" EXACT IUPAC_NAME [IUPAC] xref: ChEMBL:524778 xref: PDBeChem:MCG xref: Reaxys:7568949 {source="Reaxys"} is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H11NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H11NO4/c1-10(11,9(14)15)7-4-2-6(3-5-7)8(12)13/h2-5H,11H2,1H3,(H,12,13)(H,14,15)/t10-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DNCAZYRLRMTVSF-JTQLQIEISA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "209.19860" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "209.06881" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[C@@](N)(C(O)=O)c1ccc(cc1)C(O)=O" xsd:string [Term] id: CHEBI:4393 name: (-)-demecolcine namespace: chebi_ontology def: "A secondary amino compound that is (S)-colchicine in which the N-acetyl group is replaced by an N-methyl group. Isolable from the autumn crocus, Colchicum autumnale, it is less toxic than colchicine and is used as an antineoplastic." [] subset: 3_STAR synonym: "(-)-colchamine" RELATED [ChemIDplus] synonym: "(7S)-1,2,3,10-tetramethoxy-7-(methylamino)-6,7-dihydrobenzo[a]heptalen-9(5H)-one" EXACT IUPAC_NAME [IUPAC] synonym: "Colcemid" RELATED [KEGG_COMPOUND] synonym: "demecolcina" RELATED INN [ChemIDplus] synonym: "demecolcine" RELATED INN [ChemIDplus] synonym: "demecolcinum" RELATED INN [ChemIDplus] synonym: "N-deacetyl-N-methylcolchicine" RELATED [ChemIDplus] synonym: "N-desacetyl-N-methylcolchicine" RELATED [ChemIDplus] synonym: "N-methyl-N-deacetylcolchicine" RELATED [ChemIDplus] synonym: "N-methyl-N-desacetylcolchicine" RELATED [ChemIDplus] synonym: "Reichstein's F" RELATED [ChemIDplus] synonym: "Santavy's substance F" RELATED [ChemIDplus] xref: CAS:477-30-5 {source="KEGG COMPOUND"} xref: CAS:477-30-5 {source="ChemIDplus"} xref: ChEMBL:238150 xref: ChemIDplus:477-30-5 xref: CiteXplore:1061646 xref: CiteXplore:20082301 xref: CiteXplore:22394737 xref: CiteXplore:2329167 xref: CiteXplore:2977921 xref: CiteXplore:7237451 xref: CiteXplore:7720099 xref: CiteXplore:7887202 xref: Drug_Central:4375 {source="DrugCentral"} xref: KEGG COMPOUND:477-30-5 xref: KEGG COMPOUND:C11250 xref: KEGG:C11250 xref: KNApSAcK:C00027138 xref: LINCS:LSM-6590 xref: MeSH:D003703 xref: NCIt:C419 xref: Patent:DE936268 xref: PMID:1061646 {source="Europe PMC"} xref: PMID:20082301 {source="Europe PMC"} xref: PMID:22394737 {source="Europe PMC"} xref: PMID:2329167 {source="Europe PMC"} xref: PMID:2977921 {source="Europe PMC"} xref: PMID:7237451 {source="Europe PMC"} xref: PMID:7720099 {source="Europe PMC"} xref: PMID:7887202 {source="Europe PMC"} xref: Reaxys:2822892 {source="Reaxys"} xref: Wikipedia:Demecolcine is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:35610 ! antineoplastic agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C21H25NO5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C21H25NO5/c1-22-15-8-6-12-10-18(25-3)20(26-4)21(27-5)19(12)13-7-9-17(24-2)16(23)11-14(13)15/h7,9-11,15,22H,6,8H2,1-5H3/t15-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NNJPGOLRFBJNIW-HNNXBMFYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "371.42690" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "371.17327" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN[C@H]1CCc2cc(OC)c(OC)c(OC)c2-c2ccc(OC)c(=O)cc12" xsd:string [Term] id: CHEBI:44185 name: methotrexate namespace: chebi_ontology alt_id: CHEBI:44183 alt_id: CHEBI:6837 subset: 3_STAR synonym: "4-amino-10-methylfolic acid" RELATED [ChemIDplus] synonym: "4-amino-N(10)-methylpteroylglutamic acid" RELATED [NIST_Chemistry_WebBook] synonym: "Emtexate" RELATED BRAND_NAME [DrugBank] synonym: "Ledertrexate" RELATED BRAND_NAME [DrugBank] synonym: "METHOTREXATE" EXACT [PDBeChem] synonym: "Methotrexate" EXACT [KEGG_COMPOUND] synonym: "methotrexate" RELATED INN [KEGG_DRUG] synonym: "methotrexatum" RELATED INN [ChemIDplus] synonym: "metotrexato" RELATED INN [ChemIDplus] synonym: "MTX" RELATED [ChemIDplus] synonym: "N-(4-{[(2,4-diaminopteridin-6-yl)methyl](methyl)amino}benzoyl)-L-glutamic acid" EXACT IUPAC_NAME [IUPAC] synonym: "N-[4-[[(2,4-diamino-6-pteridinyl)methyl]methylamino]benzoyl]-L-glutamic acid" RELATED [NIST_Chemistry_WebBook] synonym: "Rheumatrex" RELATED BRAND_NAME [DrugBank] synonym: "Trexall" RELATED BRAND_NAME [DrugBank] xref: Beilstein:70669 {source="Beilstein"} xref: CAS:59-05-2 {source="ChemIDplus"} xref: CAS:59-05-2 {source="NIST Chemistry WebBook"} xref: CAS:59-05-2 {source="KEGG COMPOUND"} xref: Drug_Central:1751 {source="DrugCentral"} xref: DrugBank:DB00563 xref: KEGG:C01937 xref: KEGG:D00142 xref: LINCS:LSM-5690 xref: MeSH:D008727 xref: NCIt:C642 xref: Patent:US2512572 xref: PDBeChem:MTX xref: SNOMEDCT:387381009 xref: SNOMEDCT:68887009 xref: Wikipedia:Methotrexate is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H22N8O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H22N8O5/c1-28(9-11-8-23-17-15(24-11)16(21)26-20(22)27-17)12-4-2-10(3-5-12)18(31)25-13(19(32)33)6-7-14(29)30/h2-5,8,13H,6-7,9H2,1H3,(H,25,31)(H,29,30)(H,32,33)(H4,21,22,23,26,27)/t13-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FBOZXECLQNJBKD-ZDUSSCGKSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "454.43960" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "454.17132" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN(Cc1cnc2nc(N)nc(N)c2n1)c1ccc(cc1)C(=O)N[C@@H](CCC(O)=O)C(O)=O" xsd:string [Term] id: CHEBI:44337 name: N-acetyl-L-glutamate(2-) namespace: chebi_ontology alt_id: CHEBI:12575 alt_id: CHEBI:64040 alt_id: CHEBI:87274 def: "An N-acyl-L-alpha-amino acid anion resulting from deprotonation of both carboxy groups of N-acetyl-L-glutamic acid." [] subset: 3_STAR synonym: "(2S)-2-acetamidopentanedioate" EXACT IUPAC_NAME [IUPAC] synonym: "(S)-2-(acetylamino)pentanedioate" RELATED [ChEBI] synonym: "acetyl-L-glutamate" RELATED [MetaCyc] synonym: "N-Acetyl-L-glutamate" RELATED [KEGG_COMPOUND] synonym: "N-acetyl-L-glutamate" RELATED [UniProt] synonym: "NAG" RELATED [MetaCyc] xref: CAS:1188-37-0 {source="KEGG COMPOUND"} xref: HMDB:HMDB0001138 xref: KEGG:C00624 xref: MetaCyc:ACETYL-GLU xref: PMID:19399372 {source="Europe PMC"} xref: PMID:19754428 {source="Europe PMC"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H9NO5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H11NO5/c1-4(9)8-5(7(12)13)2-3-6(10)11/h5H,2-3H2,1H3,(H,8,9)(H,10,11)(H,12,13)/p-2/t5-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RFMMMVDNIPUKGG-YFKPBYRVSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "187.150" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "187.04917" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(C([O-])=O)C[C@@H](C([O-])=O)NC(=O)C" xsd:string [Term] id: CHEBI:44423 name: hydroxyurea namespace: chebi_ontology alt_id: CHEBI:44420 alt_id: CHEBI:5816 def: "A member of the class of ureas that is urea in which one of the hydrogens is replaced by a hydroxy group. An antineoplastic used in the treatment of chronic myeloid leukaemia as well as for sickle-cell disease." [] subset: 3_STAR synonym: "carbamohydroxamic acid" RELATED [ChemIDplus] synonym: "carbamohydroximic acid" RELATED [ChemIDplus] synonym: "carbamoyl oxime" RELATED [ChemIDplus] synonym: "carbamyl hydroxamate" RELATED [ChemIDplus] synonym: "hidroxicarbamida" RELATED INN [ChemIDplus] synonym: "hydrea" RELATED [ChemIDplus] synonym: "Hydroxycarbamid" RELATED [ChEBI] synonym: "Hydroxycarbamide" RELATED [KEGG_COMPOUND] synonym: "hydroxycarbamide" RELATED INN [WHO_MedNet] synonym: "hydroxycarbamide" RELATED INN [ChemIDplus] synonym: "hydroxycarbamidum" RELATED INN [ChemIDplus] synonym: "Hydroxyharnstoff" RELATED [ChEBI] synonym: "Hydroxyurea" EXACT [KEGG_COMPOUND] synonym: "hydroxyurea" EXACT [UniProt] synonym: "N-carbamoylhydroxylamine" RELATED [ChemIDplus] synonym: "N-HYDROXYUREA" RELATED [PDBeChem] synonym: "N-hydroxyurea" EXACT IUPAC_NAME [IUPAC] synonym: "oxyurea" RELATED [ChemIDplus] xref: Beilstein:1741548 {source="ChemIDplus"} xref: CAS:127-07-1 {source="KEGG COMPOUND"} xref: CAS:127-07-1 {source="ChemIDplus"} xref: Drug_Central:1399 {source="DrugCentral"} xref: DrugBank:DB01005 xref: Gmelin:130423 {source="Gmelin"} xref: HMDB:HMDB0015140 xref: KEGG:C07044 xref: KEGG:D00341 xref: MetaCyc:HYDROXY-UREA xref: Patent:US2705727 xref: PDBeChem:NHY xref: PMID:11285159 {source="Europe PMC"} xref: PMID:11298103 {source="Europe PMC"} xref: PMID:11364534 {source="Europe PMC"} xref: PMID:11365149 {source="Europe PMC"} xref: PMID:11391710 {source="Europe PMC"} xref: PMID:12107454 {source="Europe PMC"} xref: PMID:14988684 {source="Europe PMC"} xref: PMID:15772364 {source="Europe PMC"} xref: PMID:15994344 {source="Europe PMC"} xref: PMID:16356682 {source="Europe PMC"} xref: PMID:22983419 {source="Europe PMC"} xref: PMID:23318979 {source="Europe PMC"} xref: PMID:23643402 {source="Europe PMC"} xref: PMID:23696560 {source="Europe PMC"} xref: PMID:9271088 {source="Europe PMC"} xref: Reaxys:1741548 {source="Reaxys"} xref: Wikipedia:Hydroxyurea is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "CH4N2O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/CH4N2O2/c2-1(4)3-5/h5H,(H3,2,3,4)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VSNHCAURESNICA-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "76.05474" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "76.02728" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NC(=O)NO" xsd:string [Term] id: CHEBI:44445 name: nimesulide namespace: chebi_ontology alt_id: CHEBI:44440 alt_id: CHEBI:7574 def: "An aromatic ether having phenyl and 2-methylsulfonamido-5-nitrophenyl as the two aryl groups." [] subset: 3_STAR synonym: "4'-nitro-2'-phenoxymethanesulfonanilide" RELATED [ChemIDplus] synonym: "4-NITRO-2-PHENOXYMETHANESULFONANILIDE" RELATED [PDBeChem] synonym: "N-(4-nitro-2-phenoxyphenyl)methanesulfonamide" EXACT IUPAC_NAME [IUPAC] synonym: "Nimesulide" EXACT [KEGG_DRUG] xref: Beilstein:2421175 {source="Beilstein"} xref: CAS:51803-78-2 {source="ChemIDplus"} xref: Drug_Central:1935 {source="DrugCentral"} xref: DrugBank:DB04743 xref: KEGG:D01049 xref: LINCS:LSM-3718 xref: PDBeChem:NIM xref: PMID:18426087 {source="Europe PMC"} xref: Reaxys:2421175 {source="Reaxys"} xref: VSDB:1893 xref: Wikipedia:Nimesulide is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C13H12N2O5S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C13H12N2O5S/c1-21(18,19)14-12-8-7-10(15(16)17)9-13(12)20-11-5-3-2-4-6-11/h2-9,14H,1H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HYWYRSMBCFDLJT-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "308.31000" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "308.04669" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CS(=O)(=O)Nc1ccc(cc1Oc1ccccc1)[N+]([O-])=O" xsd:string [Term] id: CHEBI:44526 name: (10E,12Z)-octadecadienoic acid namespace: chebi_ontology alt_id: CHEBI:38395 alt_id: CHEBI:44522 def: "An octadeca-10,12-dienoic acid having (10E,12Z)-configuration." [] subset: 3_STAR synonym: "(10E,12Z)-octadeca-10,12-dienoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "(E,Z)-octadeca-10,12-dienoic acid" RELATED [ChEBI] synonym: "10,12-trans,cis-octadecanoic acid" RELATED [ChEBI] synonym: "10-trans-12-cis-CLA" RELATED [ChEBI] synonym: "10-trans-12-cis-conjugated linoleic acid" RELATED [ChEBI] synonym: "10-trans-12-cis-linoleic acid" RELATED [ChEBI] synonym: "10-trans-12-cis-octadecadienoic acid" RELATED [ChEBI] synonym: "C18:2, n-6,8 cis,trans" RELATED [ChEBI] xref: DrugBank:DB04746 xref: LIPID_MAPS_instance:LMFA01030125 {source="LIPID MAPS"} xref: MeSH:C496197 xref: PDBeChem:ODD "PDBeChem" xref: PDBeChem:ODD xref: Reaxys:1726562 "Reaxys Registry Number" xref: Reaxys:1726562 {source="Reaxys"} is_a: CHEBI:35366 ! fatty acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H32O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H32O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-18(19)20/h6-9H,2-5,10-17H2,1H3,(H,19,20)/b7-6-,9-8+" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GKJZMAHZJGSBKD-NMMTYZSQSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "280.44550" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "280.24023" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCC\\C=C/C=C/CCCCCCCCC(O)=O" xsd:string [Term] id: CHEBI:44616 name: afimoxifene namespace: chebi_ontology def: "A tertiary amino compound that is tamoxifen in which the phenyl group which is in a Z- relationship to the ethyl substituent is hydroxylated at the para- position. It is the active metabolite of tamoxifen." [] subset: 3_STAR synonym: "4-HYDROXYTAMOXIFEN" RELATED [PDBeChem] synonym: "4-Hydroxytamoxifen" RELATED [KEGG_COMPOUND] synonym: "4-hydroxytamoxifen" RELATED [ChemIDplus] synonym: "4-monohydroxytamoxifen" RELATED [ChEBI] synonym: "4-OHT" RELATED [ChemIDplus] synonym: "afimoxifene" RELATED INN [ChemIDplus] xref: CAS:68047-06-3 {source="KEGG COMPOUND"} xref: CAS:68392-35-8 {source="ChemIDplus"} xref: ChEMBL:106402 xref: ChemIDplus:68392-35-8 xref: CiteXplore:15159443 xref: CiteXplore:16120301 xref: CiteXplore:17351746 xref: CiteXplore:20006599 xref: CiteXplore:22388692 xref: KEGG DRUG:D06551 xref: KEGG:C05011 xref: KEGG:D06551 xref: MeSH:C016601 xref: NCIt:C975 xref: PDBeChem:OHT xref: PMID:15159443 {source="Europe PMC"} xref: PMID:16120301 {source="Europe PMC"} xref: PMID:17351746 {source="Europe PMC"} xref: PMID:20006599 {source="Europe PMC"} xref: PMID:22388692 {source="Europe PMC"} xref: PMID:26354796 {source="Europe PMC"} xref: PMID:27882656 {source="Europe PMC"} xref: PMID:30937657 {source="Europe PMC"} xref: PMID:31195002 {source="Europe PMC"} xref: PMID:31278729 {source="Europe PMC"} xref: PMID:31519767 {source="Europe PMC"} xref: PMID:32103133 {source="Europe PMC"} xref: PMID:32175001 {source="Europe PMC"} xref: Reaxys:4910748 {source="Reaxys"} xref: Wikipedia:Afimoxifene is_a: CHEBI:33853 ! phenols relationship: has_role CHEBI:35610 ! antineoplastic agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C26H29NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C26H29NO2/c1-4-25(20-8-6-5-7-9-20)26(21-10-14-23(28)15-11-21)22-12-16-24(17-13-22)29-19-18-27(2)3/h5-17,28H,4,18-19H2,1-3H3/b26-25-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "TXUZVZSFRXZGTL-QPLCGJKRSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "387.51400" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "387.21983" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC\\C(c1ccccc1)=C(/c1ccc(O)cc1)c1ccc(OCCN(C)C)cc1" xsd:string [Term] id: CHEBI:44747 name: homogentisic acid namespace: chebi_ontology alt_id: CHEBI:44744 alt_id: CHEBI:5755 def: "A dihydroxyphenylacetic acid having the two hydroxy substituents at the 2- and 5-positions." [] subset: 3_STAR synonym: "(2,5-dihydroxyphenyl)acetic acid" EXACT IUPAC_NAME [IUPAC] synonym: "2,5-Dihydroxyphenylacetic acid" RELATED [KEGG_COMPOUND] synonym: "2-(3,6-DIHYDROXYPHENYL)ACETIC ACID" RELATED [PDBeChem] synonym: "Homogentisic acid" EXACT [KEGG_COMPOUND] xref: Beilstein:2692860 {source="Beilstein"} xref: CAS:451-13-8 {source="ChemIDplus"} xref: CAS:451-13-8 {source="KEGG COMPOUND"} xref: DrugBank:DB08327 xref: HMDB:HMDB0000130 xref: KEGG:C00544 xref: KNApSAcK:C00007309 xref: PDBeChem:OMD xref: PMID:16196135 {source="Europe PMC"} xref: PMID:19919097 {source="Europe PMC"} xref: PMID:22850426 {source="Europe PMC"} xref: PMID:23486607 {source="Europe PMC"} xref: PMID:23511227 {source="Europe PMC"} xref: PMID:23879342 {source="Europe PMC"} xref: PMID:24373924 {source="Europe PMC"} xref: Reaxys:2692860 {source="Reaxys"} xref: Wikipedia:Homogentisic_acid is_a: CHEBI:33853 ! phenols property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H8O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H8O4/c9-6-1-2-7(10)5(3-6)4-8(11)12/h1-3,9-10H,4H2,(H,11,12)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IGMNYECMUMZDDF-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "168.14672" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "168.04226" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)Cc1cc(O)ccc1O" xsd:string [Term] id: CHEBI:44897 name: phosphoenolpyruvic acid namespace: chebi_ontology alt_id: CHEBI:26055 alt_id: CHEBI:44894 def: "A monocarboxylic acid that is acrylic acid substituted by a phosphonooxy group at position 2. It is a metabolic intermediate in pathways like glycolysis and gluconeogenesis." [] subset: 3_STAR synonym: "2-(phosphonooxy)-2-propenoic acid" RELATED [ChemIDplus] synonym: "2-(phosphonooxy)prop-2-enoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "2-PHOSPHOENOLPYRUVIC ACID" RELATED [PDBeChem] synonym: "PEP" RELATED [KEGG_COMPOUND] synonym: "PHOSPHOENOLPYRUVATE" RELATED [PDBeChem] synonym: "Phosphoenolpyruvic acid" EXACT [KEGG_COMPOUND] xref: CAS:138-08-9 {source="ChemIDplus"} xref: CAS:138-08-9 {source="KEGG COMPOUND"} xref: DrugBank:DB01819 xref: HMDB:HMDB0000263 xref: KEGG:C00074 xref: KNApSAcK:C00000798 xref: PDBeChem:PEP xref: Reaxys:1775389 {source="Reaxys"} xref: Wikipedia:Phosphoenolpyruvic_acid is_a: CHEBI:26020 ! phosphate property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H5O6P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H5O6P/c1-2(3(4)5)9-10(6,7)8/h1H2,(H,4,5)(H2,6,7,8)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DTBNBXWJWCWCIK-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "168.04196" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "167.98237" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)C(=C)OP(O)(O)=O" xsd:string [Term] id: CHEBI:44915 name: propofol namespace: chebi_ontology alt_id: CHEBI:44914 alt_id: CHEBI:8495 def: "A phenol resulting from the formal substitution of the hydrogen at the 2 position of 1,3-diisopropylbenzene by a hydroxy group." [] subset: 3_STAR synonym: "2,6-BIS(1-METHYLETHYL)PHENOL" RELATED [PDBeChem] synonym: "2,6-bis(1-methylethyl)phenol" RELATED [ChemIDplus] synonym: "2,6-bis(propan-2-yl)phenol" EXACT IUPAC_NAME [IUPAC] synonym: "2,6-Diisopropylphenol" RELATED [KEGG_COMPOUND] synonym: "Diprivan" RELATED BRAND_NAME [KEGG_DRUG] synonym: "Disoprivan" RELATED BRAND_NAME [DrugBank] synonym: "Disoprofol" RELATED [ChemIDplus] synonym: "Disoprofol" RELATED BRAND_NAME [DrugBank] synonym: "Propofol" EXACT [KEGG_COMPOUND] synonym: "propofol" RELATED INN [KEGG_DRUG] synonym: "propofolum" RELATED [ChemIDplus] synonym: "Rapinovet" RELATED BRAND_NAME [DrugBank] xref: Beilstein:1866484 {source="ChemIDplus"} xref: CAS:2078-54-8 {source="KEGG COMPOUND"} xref: CAS:2078-54-8 {source="ChemIDplus"} xref: CAS:2078-54-8 {source="NIST Chemistry WebBook"} xref: Drug_Central:2302 {source="DrugCentral"} xref: DrugBank:DB00818 xref: KEGG:C07523 xref: KEGG:D00549 xref: LINCS:LSM-3847 xref: MeSH:D015742 xref: NCIt:C29384 xref: PDBeChem:PFL xref: SNOMEDCT:387423006 xref: SNOMEDCT:74674007 xref: VSDB:1846 xref: Wikipedia:Propofol is_a: CHEBI:33853 ! phenols relationship: has_role CHEBI:35623 ! anticonvulsant relationship: has_role CHEBI:35717 ! sedative relationship: has_role CHEBI:38877 ! intravenous anaesthetic relationship: has_role CHEBI:50919 ! antiemetic property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12H18O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C12H18O/c1-8(2)10-6-5-7-11(9(3)4)12(10)13/h5-9,13H,1-4H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OLBCVFGFOZPWHH-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "178.27072" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "178.13577" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)c1cccc(C(C)C)c1O" xsd:string [Term] id: CHEBI:44975 name: 1,10-phenanthroline namespace: chebi_ontology alt_id: CHEBI:44973 alt_id: CHEBI:476 subset: 3_STAR synonym: "1,10-PHENANTHROLINE" EXACT [PDBeChem] synonym: "1,10-Phenanthroline" EXACT [KEGG_COMPOUND] synonym: "1,10-phenanthroline" EXACT IUPAC_NAME [IUPAC] synonym: "4,5-diazaphenanthrene" RELATED [ChemIDplus] synonym: "o-Phenanthroline" RELATED [KEGG_COMPOUND] synonym: "orthophenanthroline" RELATED [ChemIDplus] synonym: "phen" RELATED [IUPAC] xref: Beilstein:126461 {source="Beilstein"} xref: CAS:66-71-7 {source="NIST Chemistry WebBook"} xref: CAS:66-71-7 {source="ChemIDplus"} xref: CAS:66-71-7 {source="KEGG COMPOUND"} xref: DrugBank:DB02365 xref: Gmelin:4040 {source="Gmelin"} xref: KEGG:C00604 xref: LINCS:LSM-18864 xref: PDBeChem:PHN xref: PMID:11170445 {source="Europe PMC"} xref: PMID:18499511 {source="Europe PMC"} xref: PMID:6140164 {source="Europe PMC"} xref: Reaxys:126461 {source="Reaxys"} xref: Wikipedia:Phenanthroline is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12H8N2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C12H8N2/c1-3-9-5-6-10-4-2-8-14-12(10)11(9)13-7-1/h1-8H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DGEZNRSVGBDHLK-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "180.20540" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "180.06875" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "c1cnc2c(c1)ccc1cccnc21" xsd:string [Term] id: CHEBI:45081 name: pentamidine namespace: chebi_ontology alt_id: CHEBI:45077 alt_id: CHEBI:7976 def: "A diether consisting of pentane-1,5-diol in which both hydroxyl hydrogens have been replaced by 4-amidinophenyl groups. A trypanocidal drug that is used for treatment of cutaneous leishmaniasis and Chagas disease." [] subset: 3_STAR synonym: "1,5-bis(4-amidinophenoxy)pentane" RELATED [ChEBI] synonym: "4,4'-(1,5-pentanediylbis(oxy))bis-benzenecarboximidamide" RELATED [ChemIDplus] synonym: "4,4'-(pentamethylenedioxy)dibenzamidine" RELATED [ChemIDplus] synonym: "4,4'-[pentane-1,5-diylbis(oxy)]dibenzenecarboximidamide" EXACT IUPAC_NAME [IUPAC] synonym: "4,4'-Diamidinodiphenoxypentane" RELATED [DrugBank] synonym: "p,p'-(pentamethylenedioxy)dibenzamidine" RELATED [ChemIDplus] synonym: "pentamidin" RELATED [DrugCentral] synonym: "Pentamidine" EXACT [KEGG_COMPOUND] synonym: "pentamidine" RELATED INN [KEGG_DRUG] xref: Beilstein:3159790 {source="ChemIDplus"} xref: CAS:100-33-4 {source="KEGG COMPOUND"} xref: CAS:100-33-4 {source="ChemIDplus"} xref: ChEMBL:103965 xref: ChemIDplus:100-33-4 xref: ChemIDplus:3159790 xref: CiteXplore:11438428 xref: CiteXplore:14603035 xref: CiteXplore:15711592 xref: CiteXplore:18971316 xref: CiteXplore:19966562 xref: CiteXplore:22046004 xref: CiteXplore:22093811 xref: CiteXplore:22200378 xref: CiteXplore:22327112 xref: Drug_Central:2090 {source="DrugCentral"} xref: DrugBank:DB00738 xref: HMDB:HMDB0014876 xref: KEGG COMPOUND:100-33-4 xref: KEGG COMPOUND:C07420 xref: KEGG DRUG:D08333 xref: KEGG:C07420 xref: KEGG:D08333 xref: LINCS:LSM-4540 xref: MeSH:D010419 xref: NCIt:C731 xref: Patent:EP975608 xref: Patent:GB507565 xref: Patent:US2006235001 xref: Patent:US2008167296 xref: Patent:US2008214569 xref: Patent:US2394003 xref: Patent:US7115665 xref: PDBeChem:PNT xref: PMID:10415905 {source="Europe PMC"} xref: PMID:10917591 {source="Europe PMC"} xref: PMID:11438428 {source="Europe PMC"} xref: PMID:11584934 {source="Europe PMC"} xref: PMID:14603035 {source="Europe PMC"} xref: PMID:15711592 {source="Europe PMC"} xref: PMID:18346045 {source="Europe PMC"} xref: PMID:18971316 {source="Europe PMC"} xref: PMID:19966562 {source="Europe PMC"} xref: PMID:20144237 {source="Europe PMC"} xref: PMID:20599360 {source="Europe PMC"} xref: PMID:22046004 {source="Europe PMC"} xref: PMID:22093811 {source="Europe PMC"} xref: PMID:22200378 {source="Europe PMC"} xref: PMID:22327112 {source="Europe PMC"} xref: PMID:26052915 {source="Europe PMC"} xref: PMID:26117647 {source="Europe PMC"} xref: PMID:26295040 {source="Europe PMC"} xref: PMID:26344166 {source="Europe PMC"} xref: PMID:26418240 {source="Europe PMC"} xref: PMID:26431253 {source="Europe PMC"} xref: PMID:26515653 {source="Europe PMC"} xref: PMID:26606757 {source="Europe PMC"} xref: PMID:26648589 {source="Europe PMC"} xref: PMID:26734860 {source="Europe PMC"} xref: PMID:26824946 {source="Europe PMC"} xref: PMID:26828608 {source="Europe PMC"} xref: PMID:26882015 {source="Europe PMC"} xref: PMID:26903605 {source="Europe PMC"} xref: PMID:26938448 {source="Europe PMC"} xref: PMID:27011917 {source="Europe PMC"} xref: PMID:27135970 {source="Europe PMC"} xref: PMID:27164533 {source="Europe PMC"} xref: PMID:27214074 {source="Europe PMC"} xref: PMID:27297108 {source="Europe PMC"} xref: PMID:27353022 {source="Europe PMC"} xref: PMID:27357655 {source="Europe PMC"} xref: PMID:27600039 {source="Europe PMC"} xref: PMID:27729250 {source="Europe PMC"} xref: PMID:28074607 {source="Europe PMC"} xref: PMID:28167598 {source="Europe PMC"} xref: PMID:28263303 {source="Europe PMC"} xref: PMID:7542607 {source="Europe PMC"} xref: PMID:7690919 {source="Europe PMC"} xref: PMID:8841838 {source="Europe PMC"} xref: Reaxys:3159790 {source="Reaxys"} xref: SNOMEDCT:31692006 xref: SNOMEDCT:372699006 xref: Wikipedia:Pentamidine is_a: EFO:0004417 ! amide relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H24N4O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H24N4O2/c20-18(21)14-4-8-16(9-5-14)24-12-2-1-3-13-25-17-10-6-15(7-11-17)19(22)23/h4-11H,1-3,12-13H2,(H3,20,21)(H3,22,23)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XDRYMKDFEDOLFX-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "340.420" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "340.18993" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(CCCOC1=CC=C(C=C1)C(N)=N)COC2=CC=C(C=C2)C(N)=N" xsd:string [Term] id: CHEBI:4509 name: diclofenac sodium namespace: chebi_ontology def: "The sodium salt of diclofenac." [] subset: 3_STAR synonym: "(o-(2,6-dichloroanilino)phenyl)acetic acid monosodium salt" RELATED [ChemIDplus] synonym: "(o-(2,6-dichloroanilino)phenyl)acetic acid sodium salt" RELATED [ChemIDplus] synonym: "2-((2,6-dichlorophenyl)amino)benzeneacetic acid monosodium salt" RELATED [ChemIDplus] synonym: "sodium (o-((2,6-dichlorophenyl)amino)phenyl)acetate" RELATED [ChemIDplus] synonym: "sodium (o-(2,6-dichloroanilino)phenyl)acetate" RELATED [ChemIDplus] synonym: "sodium diclofenac" RELATED [ChemIDplus] synonym: "sodium {2-[(2,6-dichlorophenyl)amino]phenyl}acetate" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:3581138 {source="Beilstein"} xref: CAS:15307-79-6 {source="ChemIDplus"} xref: DrugBank:DB00586 xref: KEGG:D00904 xref: NCIt:C47984 xref: PMID:1502708 {source="Europe PMC"} xref: SNOMEDCT:419143009 xref: SNOMEDCT:62039007 is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:35472 ! anti-inflammatory drug property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C14H10Cl2NNaO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C14H10Cl2NO2.Na" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C14H11Cl2NO2.Na/c15-10-5-3-6-11(16)14(10)17-12-7-2-1-4-9(12)8-13(18)19;/h1-7,17H,8H2,(H,18,19);/q;+1/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KPHWPUGNDIVLNH-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "318.13000" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "316.99863" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Na+].[O-]C(=O)Cc1ccccc1Nc1c(Cl)cccc1Cl" xsd:string [Term] id: CHEBI:45267 name: praziquantel namespace: chebi_ontology alt_id: CHEBI:8363 subset: 1_STAR is_a: CHEBI:24532 ! organic heterocyclic compound [Term] id: CHEBI:45441 name: N-acetyl-L-serine namespace: chebi_ontology alt_id: CHEBI:21561 alt_id: CHEBI:45438 alt_id: CHEBI:88006 def: "An N-acetyl-L-amino acid in which the amino acid specified is L-serine. Metabolite observed in cancer metabolism." [] subset: 3_STAR synonym: "N-acetylserine" EXACT IUPAC_NAME [IUPAC] xref: CAS:16354-58-8 {source="ChemIDplus"} xref: Chemspider:312807 xref: HMDB:HMDB0002931 xref: PDBeChem:SAC xref: PMID:25518943 {source="Europe PMC"} xref: Reaxys:1724424 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H9NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H9NO4/c1-3(8)6-4(2-7)5(9)10/h4,7H,2H2,1H3,(H,6,8)(H,9,10)/t4-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JJIHLJJYMXLCOY-BYPYZUCNSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "147.129" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "147.05316" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C([C@H](CO)NC(C)=O)(=O)O" xsd:string [Term] id: CHEBI:45658 name: S-methylcysteine namespace: chebi_ontology alt_id: CHEBI:22056 alt_id: CHEBI:45655 alt_id: CHEBI:90363 def: "A cysteine derivative that is L-cysteine in which the hydrogen attached to the sulfur is replaced by a methyl group." [] subset: 3_STAR synonym: "(2R)-2-amino-3-(methylsulfanyl)propanoic acid" RELATED [IUPAC] synonym: "(R)-2-amino-3-(methylthio)propanoic acid" RELATED [ChEBI] synonym: "3-(Methylthio)-L-alanine" RELATED [HMDB] synonym: "L-Methylcysteine" RELATED [HMDB] synonym: "S-methyl-L-cysteine" EXACT IUPAC_NAME [IUPAC] synonym: "S-methyl-L-cysteine" RELATED [PDBeChem] synonym: "S-METHYLCYSTEINE" EXACT [PDBeChem] xref: CAS:1187-84-4 {source="ChemIDplus"} xref: DrugBank:DB02216 xref: HMDB:HMDB0002108 xref: MetaCyc:S-METHYL-L-CYSTEINE xref: PDBeChem:SMC xref: PMID:15161248 {source="Europe PMC"} xref: PMID:19367645 {source="Europe PMC"} xref: PMID:21110385 {source="Europe PMC"} xref: PMID:23417484 {source="Europe PMC"} xref: PMID:25650289 {source="Europe PMC"} xref: PMID:26887651 {source="Europe PMC"} xref: PMID:26928722 {source="Europe PMC"} xref: PMID:508804 {source="Europe PMC"} xref: PMID:7451605 {source="Europe PMC"} xref: PMID:993852 {source="Europe PMC"} xref: Reaxys:1721675 {source="Reaxys"} is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H9NO2S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H9NO2S/c1-8-2-3(5)4(6)7/h3H,2,5H2,1H3,(H,6,7)/t3-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IDIDJDIHTAOVLG-VKHMYHEASA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "135.180" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "135.03540" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C@H](CSC)(C(O)=O)N" xsd:string [Term] id: CHEBI:45783 name: imatinib namespace: chebi_ontology alt_id: CHEBI:305376 alt_id: CHEBI:38918 alt_id: CHEBI:45781 def: "A benzamide obtained by formal condensation of the carboxy group of 4-[(4-methylpiperazin-1-yl)methyl]benzoic acid with the primary aromatic amino group of 4-methyl-N(3)-[4-(pyridin-3-yl)pyrimidin-2-yl]benzene-1,3-diamine. Used (as its mesylate salt) for treatment of chronic myelogenous leukemia and gastrointestinal stromal tumours." [] subset: 3_STAR synonym: "4-(4-METHYL-PIPERAZIN-1-YLMETHYL)-N-[4-METHYL-3-(4-PYRIDIN-3-YL-PYRIMIDIN-2-YLAMINO)-PHENYL]-BENZAMIDE" RELATED [PDBeChem] synonym: "4-[(4-methylpiperazin-1-yl)methyl]-N-{4-methyl-3-[(4-pyridin-3-ylpyrimidin-2-yl)amino]phenyl}benzamide" EXACT IUPAC_NAME [IUPAC] synonym: "alpha-(4-methyl-1-piperazinyl)-3'-((4-(3-pyridyl)-2-pyrimidinyl)amino)-p-toluidide" RELATED [ChemIDplus] synonym: "imatinib" RELATED INN [ChemIDplus] synonym: "STI 571" RELATED [ChemIDplus] xref: Beilstein:7671333 {source="Beilstein"} xref: CAS:152459-95-5 {source="ChemIDplus"} xref: Drug_Central:1423 {source="DrugCentral"} xref: DrugBank:DB00619 xref: HMDB:HMDB0014757 xref: KEGG:D08066 xref: LINCS:LSM-1023 xref: MeSH:C097613 xref: NCIt:C62035 xref: Patent:EP564409 xref: Patent:US5521184 xref: PDBeChem:STI xref: PMID:14660054 {source="Europe PMC"} xref: PMID:14715630 {source="Europe PMC"} xref: PMID:15073101 {source="Europe PMC"} xref: PMID:15170967 {source="Europe PMC"} xref: PMID:15722647 {source="Europe PMC"} xref: PMID:15794712 {source="Europe PMC"} xref: PMID:15966213 {source="Europe PMC"} xref: PMID:16122278 {source="Europe PMC"} xref: PMID:16826359 {source="Europe PMC"} xref: PMID:16983347 {source="Europe PMC"} xref: PMID:17190842 {source="Europe PMC"} xref: PMID:17410337 {source="Europe PMC"} xref: PMID:17457302 {source="Europe PMC"} xref: PMID:17717205 {source="Europe PMC"} xref: PMID:18193246 {source="Europe PMC"} xref: PMID:18216472 {source="Europe PMC"} xref: PMID:18337118 {source="Europe PMC"} xref: PMID:18344535 {source="Europe PMC"} xref: PMID:18376233 {source="Europe PMC"} xref: PMID:18407734 {source="Europe PMC"} xref: PMID:18420270 {source="Europe PMC"} xref: PMID:18423008 {source="Europe PMC"} xref: PMID:18548219 {source="Europe PMC"} xref: PMID:18623899 {source="Europe PMC"} xref: PMID:18780518 {source="Europe PMC"} xref: PMID:18809244 {source="Europe PMC"} xref: PMID:19020005 {source="Europe PMC"} xref: PMID:19052981 {source="Europe PMC"} xref: PMID:19077095 {source="Europe PMC"} xref: PMID:19097599 {source="Europe PMC"} xref: PMID:19182535 {source="Europe PMC"} xref: PMID:19242505 {source="Europe PMC"} xref: PMID:19415889 {source="Europe PMC"} xref: PMID:19527930 {source="Europe PMC"} xref: PMID:19591692 {source="Europe PMC"} xref: PMID:19693287 {source="Europe PMC"} xref: PMID:19749465 {source="Europe PMC"} xref: PMID:19810774 {source="Europe PMC"} xref: PMID:19853594 {source="Europe PMC"} xref: PMID:19920908 {source="Europe PMC"} xref: PMID:22891806 {source="Europe PMC"} xref: PMID:23075630 {source="Europe PMC"} xref: PMID:23183914 {source="Europe PMC"} xref: PMID:23313020 {source="Europe PMC"} xref: PMID:23394269 {source="Europe PMC"} xref: PMID:23480638 {source="Europe PMC"} xref: PMID:23503753 {source="Europe PMC"} xref: PMID:23536338 {source="Europe PMC"} xref: PMID:23574742 {source="Europe PMC"} xref: PMID:23580311 {source="Europe PMC"} xref: PMID:23587588 {source="Europe PMC"} xref: Reaxys:7671333 {source="Reaxys"} xref: SNOMEDCT:391634008 xref: SNOMEDCT:414460008 xref: Wikipedia:Imatinib is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C29H31N7O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C29H31N7O/c1-21-5-10-25(18-27(21)34-29-31-13-11-26(33-29)24-4-3-12-30-19-24)32-28(37)23-8-6-22(7-9-23)20-36-16-14-35(2)15-17-36/h3-13,18-19H,14-17,20H2,1-2H3,(H,32,37)(H,31,33,34)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KTUFNOKKBVMGRW-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "493.60270" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "493.25901" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN1CCN(Cc2ccc(cc2)C(=O)Nc2ccc(C)c(Nc3nccc(n3)-c3cccnc3)c2)CC1" xsd:string [Term] id: CHEBI:45826 name: N-acetyl-L-threonine namespace: chebi_ontology alt_id: CHEBI:21562 alt_id: CHEBI:45824 def: "A N-acetyl-L-amino acid that is the N-acetyl derivative of L-threonine." [] subset: 3_STAR synonym: "N-acetyl-L-threonine" EXACT IUPAC_NAME [IUPAC] synonym: "N-acetylthreonine" RELATED [ChEBI] xref: CAS:17093-74-2 {source="ChemIDplus"} xref: PDBeChem:THC xref: PMID:103374 {source="Europe PMC"} xref: PMID:15516574 {source="Europe PMC"} xref: PMID:20434501 {source="Europe PMC"} xref: PMID:20944423 {source="Europe PMC"} xref: Reaxys:2357672 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H11NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H11NO4/c1-3(8)5(6(10)11)7-4(2)9/h3,5,8H,1-2H3,(H,7,9)(H,10,11)/t3-,5+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PEDXUVCGOLSNLQ-WUJLRWPWSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "161.15580" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "161.06881" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[C@@H](O)[C@H](NC(C)=O)C(O)=O" xsd:string [Term] id: CHEBI:45863 name: paclitaxel namespace: chebi_ontology alt_id: CHEBI:45862 alt_id: CHEBI:7887 def: "A tetracyclic diterpenoid isolated originally from the bark of the Pacific yew tree, Taxus brevifolia. It is a mitotic inhibitor used in cancer chemotherapy. Note that the use of the former generic name 'taxol' is now limited, as Taxol is a registered trade mark." [] subset: 3_STAR synonym: "(2aR-(2aalpha,4beta,4abeta,6beta,9alpha(alpha R*,betaS*),11alpha,12alpha,12balpha))-beta-(Benzoylamino)-alpha-hydroxybenzenepropanoic acid 6,12b-bis(acetyloxy)-12-(benzoyloxy)-2a,3,4,4a,5,6,9,10,11,12,12a,12b-dodecahydro-4,11-dihydroxy-4a,8,13,13-tetramethyl-5-oxo-7,11-methano-1H-cyclodeca(3,4)benz(1,2-b)oxet-9-yl ester" RELATED [ChemIDplus] synonym: "4alpha,10beta-bis(acetyloxy)-13alpha-[(2S,3S)-3-benzamido-2-hydroxy-3-phenylpropanoyloxy]-1,7beta-dihydroxy-9-oxo-5beta,20-epoxytax-11-en-2alpha-yl benzoate" EXACT IUPAC_NAME [IUPAC] synonym: "5beta,20-Epoxy-1,2-alpha,4,7beta,10beta,13alpha-hexahydroxytax-11-en-9-one 4,10-diacetate 2-benzoate 13-ester with (2R,3S)-N-benzoyl-3-phenylisoserine" RELATED [ChemIDplus] synonym: "Paclitaxel" EXACT [KEGG_COMPOUND] synonym: "TAXOL" RELATED [PDBeChem] synonym: "taxol" RELATED [UniProt] synonym: "Taxol A" RELATED [ChemIDplus] xref: CAS:33069-62-4 {source="ChemIDplus"} xref: CAS:33069-62-4 {source="KEGG COMPOUND"} xref: ChEMBL:108062 xref: ChemIDplus:33069-62-4 xref: Drug_Central:2044 {source="DrugCentral"} xref: DrugBank:DB01229 xref: KEGG COMPOUND:33069-62-4 xref: KEGG COMPOUND:C07394 xref: KEGG DRUG:D00491 xref: KEGG:C07394 xref: KEGG:D00491 xref: KNApSAcK:C00002365 xref: MeSH:D017239 xref: NCIt:C1411 xref: PDBeChem:TA1 xref: SNOMEDCT:387374002 xref: SNOMEDCT:67735003 xref: Wikipedia:Paclitaxel is_a: CHEBI:24913 ! isoprenoid relationship: has_role CHEBI:35610 ! antineoplastic agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C47H51NO14" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C47H51NO14/c1-25-31(60-43(56)36(52)35(28-16-10-7-11-17-28)48-41(54)29-18-12-8-13-19-29)23-47(57)40(61-42(55)30-20-14-9-15-21-30)38-45(6,32(51)22-33-46(38,24-58-33)62-27(3)50)39(53)37(59-26(2)49)34(25)44(47,4)5/h7-21,31-33,35-38,40,51-52,57H,22-24H2,1-6H3,(H,48,54)/t31-,32-,33+,35-,36+,37+,38-,40-,45+,46-,47+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RCINICONZNJXQF-MZXODVADSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "853.90618" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "853.33096" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]12[C@H](OC(=O)c3ccccc3)[C@]3(O)C[C@H](OC(=O)[C@H](O)[C@@H](NC(=O)c4ccccc4)c4ccccc4)C(C)=C([C@@H](OC(C)=O)C(=O)[C@]1(C)[C@@H](O)C[C@H]1OC[C@@]21OC(C)=O)C3(C)C" xsd:string [Term] id: CHEBI:45951 name: trifluoperazine namespace: chebi_ontology alt_id: CHEBI:45949 alt_id: CHEBI:9709 def: "A member of the class of phenothiazines that is phenothiazine having a trifluoromethyl subsitituent at the 2-position and a 3-(4-methylpiperazin-1-yl)propyl group at the N-10 position." [] subset: 3_STAR synonym: "10-[3-(4-methyl-1-piperazinyl)propyl]-2-(trifluoromethyl)-10H-phenothiazine" RELATED [NIST_Chemistry_WebBook] synonym: "10-[3-(4-METHYL-PIPERAZIN-1-YL)-PROPYL]-2-TRIFLUOROMETHYL-10H-PHENOTHIAZINE" RELATED [PDBeChem] synonym: "10-[3-(4-methylpiperazin-1-yl)propyl]-2-(trifluoromethyl)-10H-phenothiazine" EXACT IUPAC_NAME [IUPAC] synonym: "trifluoperazina" RELATED INN [ChemIDplus] synonym: "Trifluoperazine" EXACT [KEGG_COMPOUND] synonym: "trifluoperazine" RELATED INN [ChEBI] synonym: "trifluoperazine" RELATED INN [KEGG_DRUG] synonym: "trifluoperazinum" RELATED INN [ChemIDplus] synonym: "trifluoromethyl-10-(3'-(1-methyl-4-piperazinyl)propyl)phenothiazine" RELATED [NIST_Chemistry_WebBook] synonym: "trifluoroperazine" RELATED [NIST_Chemistry_WebBook] synonym: "trifluperazine" RELATED [ChemIDplus] xref: Beilstein:57272 {source="Beilstein"} xref: CAS:117-89-5 {source="NIST Chemistry WebBook"} xref: CAS:117-89-5 {source="ChemIDplus"} xref: CAS:117-89-5 {source="KEGG COMPOUND"} xref: ChEMBL:101325 xref: ChemIDplus:117-89-5 xref: CiteXplore:1650428 xref: Drug_Central:2740 {source="DrugCentral"} xref: DrugBank:DB00831 xref: Gmelin:2415561 {source="Gmelin"} xref: HMDB:HMDB0014969 xref: KEGG COMPOUND:117-89-5 xref: KEGG COMPOUND:C07168 xref: KEGG DRUG:D08636 xref: KEGG:C07168 xref: KEGG:D08636 xref: LINCS:LSM-4010 xref: MeSH:D014268 xref: NCIt:C62084 xref: NIST Chemistry WebBook:117-89-5 xref: PDBeChem:TFP xref: PMID:11121417 {source="Europe PMC"} xref: PMID:14974020 {source="Europe PMC"} xref: PMID:15722405 {source="Europe PMC"} xref: PMID:1650428 {source="Europe PMC"} xref: PMID:19277699 {source="Europe PMC"} xref: PMID:19747949 {source="Europe PMC"} xref: PMID:20544963 {source="Europe PMC"} xref: PMID:7404501 {source="Europe PMC"} xref: PMID:9730919 {source="Europe PMC"} xref: Reaxys:57272 {source="Reaxys"} xref: SNOMEDCT:373524005 xref: SNOMEDCT:71699007 xref: Wikipedia:Trifluoperazine is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C21H24F3N3S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C21H24F3N3S/c1-25-11-13-26(14-12-25)9-4-10-27-17-5-2-3-6-19(17)28-20-8-7-16(15-18(20)27)21(22,23)24/h2-3,5-8,15H,4,9-14H2,1H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ZEWQUBUPAILYHI-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "407.49669" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "407.16430" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN1CCN(CCCN2c3ccccc3Sc3ccc(cc23)C(F)(F)F)CC1" xsd:string [Term] id: CHEBI:45980 name: tacrine namespace: chebi_ontology alt_id: CHEBI:45978 alt_id: CHEBI:9389 def: "A member of the class of acridines that is 1,2,3,4-tetrahydroacridine substituted by an amino group at position 9. It is used in the treatment of Alzheimer's disease." [] subset: 3_STAR synonym: "1,2,3,4-tetrahydro-9-acridinamine" RELATED [NIST_Chemistry_WebBook] synonym: "1,2,3,4-tetrahydro-9-aminoacridine" RELATED [NIST_Chemistry_WebBook] synonym: "1,2,3,4-tetrahydroacridin-9-amine" EXACT IUPAC_NAME [IUPAC] synonym: "5-amino-6,7,8,9-tetrahydroacridine" RELATED [NIST_Chemistry_WebBook] synonym: "9-amino-1,2,3,4-tetrahydroacridine" RELATED [NIST_Chemistry_WebBook] synonym: "TACRINE" EXACT [PDBeChem] synonym: "Tacrine" EXACT [KEGG_COMPOUND] synonym: "tetrahydroaminacrine" RELATED [ChemIDplus] xref: Beilstein:147610 "Beilstein Registry Number" xref: Beilstein:147610 {source="Beilstein"} xref: CAS:321-64-2 {source="NIST Chemistry WebBook"} xref: CAS:321-64-2 {source="ChemIDplus"} xref: CAS:321-64-2 {source="KEGG COMPOUND"} xref: ChemIDplus:321-64-2 "CAS Registry Number" xref: Drug_Central:2551 {source="DrugCentral"} xref: DrugBank:DB00382 xref: KEGG COMPOUND:321-64-2 "CAS Registry Number" xref: KEGG COMPOUND:C01453 "KEGG COMPOUND" xref: KEGG:C01453 xref: KEGG:D08555 xref: LINCS:LSM-5871 xref: MeSH:D013619 xref: NCIt:C61961 xref: NIST Chemistry WebBook:321-64-2 "CAS Registry Number" xref: PDBeChem:THA "PDBeChem" xref: PDBeChem:THA xref: PMID:10817586 {source="Europe PMC"} xref: PMID:24560791 {source="Europe PMC"} xref: PMID:7866482 {source="Europe PMC"} xref: Reaxys:147610 {source="Reaxys"} xref: SNOMEDCT:108494008 xref: SNOMEDCT:373727000 xref: Wikipedia:Tacrine "Wikipedia" xref: Wikipedia:Tacrine is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:37733 ! EC 3.1.1.8 (cholinesterase) inhibitor relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C13H14N2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C13H14N2/c14-13-9-5-1-3-7-11(9)15-12-8-4-2-6-10(12)13/h1,3,5,7H,2,4,6,8H2,(H2,14,15)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YLJREFDVOIBQDA-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "198.26374" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "198.11570" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Nc1c2CCCCc2nc2ccccc12" xsd:string [Term] id: CHEBI:45996 name: ribothymidine namespace: chebi_ontology alt_id: CHEBI:30821 alt_id: CHEBI:45975 alt_id: CHEBI:45995 def: "A methyluridine having a single methyl substituent at the 5-position on the uracil ring." [] subset: 3_STAR synonym: "1-(beta-D-ribofuranosyl)thymine" RELATED [ChEBI] synonym: "5-methyluridine" EXACT IUPAC_NAME [IUPAC] synonym: "ribosylthymidine" RELATED [ChEBI] synonym: "t" RELATED [ChEBI] synonym: "Thymine riboside" RELATED [ChemIDplus] xref: CAS:1463-10-1 {source="ChemIDplus"} xref: ECMDB:ECMDB21389 xref: HMDB:HMDB0000884 xref: MetaCyc:CPD-15123 xref: PMID:1100617 {source="Europe PMC"} xref: PMID:22325947 {source="Europe PMC"} xref: PMID:22806868 {source="Europe PMC"} xref: PMID:6725946 {source="Europe PMC"} xref: Reaxys:90164 {source="Reaxys"} xref: Wikipedia:5-methyluridine is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H14N2O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H14N2O6/c1-4-2-12(10(17)11-8(4)16)9-7(15)6(14)5(3-13)18-9/h2,5-7,9,13-15H,3H2,1H3,(H,11,16,17)/t5-,6-,7-,9-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DWRXFEITVBNRMK-JXOAFFINSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "258.22804" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "258.08519" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cc1cn([C@@H]2O[C@H](CO)[C@@H](O)[C@H]2O)c(=O)[nH]c1=O" xsd:string [Term] id: CHEBI:46024 name: trichostatin A namespace: chebi_ontology alt_id: CHEBI:39145 alt_id: CHEBI:46022 subset: 3_STAR synonym: "(2E,4E,6R)-7-(4-(dimethylamino)phenyl)-N-hydroxy-4,6-dimethyl-7-oxo-2,4-heptadienamide" RELATED [ChemIDplus] synonym: "(2E,4E,6R)-7-[4-(dimethylamino)phenyl]-N-hydroxy-4,6-dimethyl-7-oxohepta-2,4-dienamide" EXACT IUPAC_NAME [IUPAC] synonym: "TRICHOSTATIN A" EXACT [PDBeChem] synonym: "TSA" RELATED [ChemIDplus] xref: Beilstein:5291761 {source="Beilstein"} xref: CAS:58880-19-6 {source="ChemIDplus"} xref: DrugBank:DB04297 xref: HMDB:HMDB0259177 xref: KNApSAcK:C00016002 xref: MeSH:C012589 xref: NCIt:C1261 xref: PDBeChem:TSN xref: PMID:10490031 {source="Europe PMC"} xref: PMID:15346199 {source="Europe PMC"} xref: PMID:16010430 {source="Europe PMC"} xref: PMID:18285338 {source="Europe PMC"} xref: PMID:19038231 {source="Europe PMC"} xref: PMID:21504214 {source="Europe PMC"} xref: PMID:25075551 {source="Europe PMC"} xref: PMID:27454931 {source="Europe PMC"} xref: PMID:30395713 {source="Europe PMC"} xref: PMID:31755702 {source="Europe PMC"} xref: PMID:32880591 {source="Europe PMC"} xref: PMID:33983895 {source="Europe PMC"} xref: PMID:34086940 {source="Europe PMC"} xref: Wikipedia:Trichostatin_A is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:33281 ! antimicrobial agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C17H22N2O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C17H22N2O3/c1-12(5-10-16(20)18-22)11-13(2)17(21)14-6-8-15(9-7-14)19(3)4/h5-11,13,22H,1-4H3,(H,18,20)/b10-5+,12-11+/t13-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RTKIYFITIVXBLE-QEQCGCAPSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "302.36826" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "302.16304" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[C@@H](C(=O)c1ccc(cc1)N(C)C)\\C=C(C)\\C=C\\C(=O)NO" xsd:string [Term] id: CHEBI:46053 name: 2,4,6-trinitrotoluene namespace: chebi_ontology alt_id: CHEBI:19337 alt_id: CHEBI:46051 def: "A trinitrotoluene having the nitro groups at positions 2, 4 and 6." [] subset: 3_STAR synonym: "1-methyl-2,4,6-trinitrobenzene" RELATED [ChemIDplus] synonym: "2,4,6-TNT" RELATED [NIST_Chemistry_WebBook] synonym: "2,4,6-Trinitrotoluene" EXACT [KEGG_COMPOUND] synonym: "2,4,6-trinitrotoluene" EXACT [PDBeChem] synonym: "2,4,6-Trinitrotoluol" RELATED [ChemIDplus] synonym: "2-methyl-1,3,5-trinitrobenzene" EXACT IUPAC_NAME [IUPAC] synonym: "alpha-TNT" RELATED [NIST_Chemistry_WebBook] synonym: "s-trinitrotoluene" RELATED [ChemIDplus] synonym: "s-Trinitrotoluol" RELATED [ChemIDplus] synonym: "sym-Trinitrotoluol" RELATED [ChemIDplus] synonym: "TNT" RELATED [ChemIDplus] synonym: "Trinitrotoluen" RELATED [ChEBI] synonym: "trinitrotoluene" RELATED [NIST_Chemistry_WebBook] synonym: "Trinitrotoluol" RELATED [ChEBI] synonym: "Tritol" RELATED [ChemIDplus] synonym: "Trotyl" RELATED [ChemIDplus] xref: Beilstein:1887900 {source="Beilstein"} xref: CAS:118-96-7 {source="ChemIDplus"} xref: CAS:118-96-7 {source="NIST Chemistry WebBook"} xref: CAS:118-96-7 {source="KEGG COMPOUND"} xref: DrugBank:DB01676 xref: KEGG:C16391 xref: PDBeChem:TNL xref: PMID:19427119 {source="Europe PMC"} xref: PMID:20219247 {source="Europe PMC"} xref: PMID:28845964 {source="Europe PMC"} xref: Reaxys:1887900 {source="Reaxys"} xref: Wikipedia:Trinitrotoluene is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H5N3O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H5N3O6/c1-4-6(9(13)14)2-5(8(11)12)3-7(4)10(15)16/h2-3H,1H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SPSSULHKWOKEEL-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "227.13110" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "227.01783" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cc1c(cc(cc1[N+]([O-])=O)[N+]([O-])=O)[N+]([O-])=O" xsd:string [Term] id: CHEBI:46081 name: fluconazole namespace: chebi_ontology alt_id: CHEBI:46079 alt_id: CHEBI:5099 def: "A member of the class of triazoles that is propan-2-ol substituted at position 1 and 3 by 1H-1,2,4-triazol-1-yl groups and at position 2 by a 2,4-difluorophenyl group. It is an antifungal drug used for the treatment of mucosal candidiasis and for systemic infections including systemic candidiasis, coccidioidomycosis, and cryptococcosis." [] subset: 3_STAR synonym: "2,4-difluoro-alpha,alpha-bis(1H-1,2,4-triazol-1-ylmethyl)benzyl alcohol" RELATED [ChemIDplus] synonym: "2-(2,4-difluorophenyl)-1,3-bis-(1H-1,2,4-triazol-1-yl)propan-2-ol" EXACT IUPAC_NAME [IUPAC] synonym: "2-(2,4-DIFLUOROPHENYL)-1,3-DI(1H-1,2,4-TRIAZOL-1-YL)PROPAN-2-OL" RELATED [PDBeChem] synonym: "Biozole" RELATED BRAND_NAME [ChEBI] synonym: "Diflucan" RELATED BRAND_NAME [ChEBI] synonym: "Elazor" RELATED [ChemIDplus] synonym: "fluconazol" RELATED INN [ChemIDplus] synonym: "fluconazole" EXACT [UniProt] synonym: "fluconazole" RELATED INN [ChemIDplus] synonym: "fluconazole" RELATED INN [WHO_MedNet] synonym: "fluconazolum" RELATED INN [ChemIDplus] synonym: "Triflucan" RELATED BRAND_NAME [ChEBI] xref: Beilstein:4269710 {source="Beilstein"} xref: CAS:86386-73-4 {source="ChemIDplus"} xref: Drug_Central:1187 {source="DrugCentral"} xref: DrugBank:DB00196 xref: HMDB:HMDB0014342 xref: KEGG:D00322 xref: LINCS:LSM-2106 xref: MeSH:D015725 xref: NCIt:C500 xref: Patent:GB2099818 xref: Patent:US4404216 xref: PDBeChem:TPF xref: PMID:11366931 {source="Europe PMC"} xref: PMID:16822276 {source="Europe PMC"} xref: PMID:23171950 {source="Europe PMC"} xref: PMID:23793863 {source="Europe PMC"} xref: Reaxys:7311650 {source="Reaxys"} xref: SNOMEDCT:31865003 xref: SNOMEDCT:387174006 xref: Wikipedia:Fluconazole is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:35718 ! antifungal agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C13H12F2N6O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C13H12F2N6O/c14-10-1-2-11(12(15)3-10)13(22,4-20-8-16-6-18-20)5-21-9-17-7-19-21/h1-3,6-9,22H,4-5H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RFHAOTPXVQNOHP-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "306.27080" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "306.10407" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(Cn1cncn1)(Cn1cncn1)c1ccc(F)cc1F" xsd:string [Term] id: CHEBI:46195 name: paracetamol namespace: chebi_ontology alt_id: CHEBI:2386 alt_id: CHEBI:46191 def: "A member of the class of phenols that is 4-aminophenol in which one of the hydrogens attached to the amino group has been replaced by an acetyl group." [] subset: 3_STAR synonym: "4'-hydroxyacetanilide" RELATED [ChemIDplus] synonym: "4-(Acetylamino)phenol" RELATED [ChemIDplus] synonym: "4-acetamidophenol" RELATED [NIST_Chemistry_WebBook] synonym: "4-acetamidophenol" RELATED [UniProt] synonym: "Acenol" RELATED [ChemIDplus] synonym: "Acetaminofen" RELATED [ChemIDplus] synonym: "acetaminofen" RELATED [ChemIDplus] synonym: "Acetaminophen" RELATED [KEGG_COMPOUND] synonym: "acetaminophene" RELATED [ChEBI] synonym: "APAP" RELATED [DrugBank] synonym: "N-(4-hydroxyphenyl)acetamide" EXACT IUPAC_NAME [IUPAC] synonym: "N-acetyl-p-aminophenol" RELATED [ChEBI] synonym: "p-acetamidophenol" RELATED [NIST_Chemistry_WebBook] synonym: "p-acetaminophenol" RELATED [NIST_Chemistry_WebBook] synonym: "p-Acetylaminophenol" RELATED [ChemIDplus] synonym: "p-hydroxyacetanilide" RELATED [NIST_Chemistry_WebBook] synonym: "p-hydroxyphenolacetamide" RELATED [NIST_Chemistry_WebBook] synonym: "Panadol" RELATED BRAND_NAME [ChEBI] synonym: "Paracetamol" EXACT [KEGG_COMPOUND] synonym: "paracetamol" RELATED INN [KEGG_DRUG] synonym: "paracetamol" RELATED INN [WHO_MedNet] synonym: "paracetamolum" RELATED INN [ChemIDplus] synonym: "Tylenol" RELATED BRAND_NAME [KEGG_DRUG] xref: Beilstein:2208089 {source="Beilstein"} xref: CAS:103-90-2 {source="KEGG COMPOUND"} xref: CAS:103-90-2 {source="ChemIDplus"} xref: CAS:103-90-2 {source="NIST Chemistry WebBook"} xref: ChEMBL:116450 xref: ChemIDplus:103-90-2 xref: Chemspider:1906 xref: CiteXplore:11304127 xref: CiteXplore:16716555 xref: CiteXplore:21108564 xref: CiteXplore:7602118 xref: Drug_Central:52 {source="DrugCentral"} xref: DrugBank:DB00316 xref: HMDB:HMDB0001859 xref: HMDB:HMDB01859 xref: KEGG COMPOUND:103-90-2 xref: KEGG COMPOUND:C06804 xref: KEGG DRUG:D00217 xref: KEGG:C06804 xref: KEGG:D00217 xref: LINCS:LSM-5533 xref: MeSH:D000082 xref: MetaCyc:CPD-7669 xref: NCIt:C198 xref: NIST Chemistry WebBook:103-90-2 xref: PDBeChem:TYL xref: PMID:11084378 {source="Europe PMC"} xref: PMID:11304127 {source="Europe PMC"} xref: PMID:16716555 {source="Europe PMC"} xref: PMID:18953082 {source="Europe PMC"} xref: PMID:21108564 {source="Europe PMC"} xref: PMID:22114686 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: PMID:25128677 {source="Europe PMC"} xref: PMID:25962350 {source="Europe PMC"} xref: PMID:27320817 {source="Europe PMC"} xref: PMID:28734939 {source="Europe PMC"} xref: PMID:29398597 {source="Europe PMC"} xref: PMID:7602118 {source="Europe PMC"} xref: Reaxys:2208089 {source="Reaxys"} xref: SNOMEDCT:387517004 xref: SNOMEDCT:90332006 xref: Wikipedia:Acetaminophen is_a: CHEBI:33853 ! phenols relationship: has_role CHEBI:35475 ! non-steroidal anti-inflammatory drug relationship: has_role CHEBI:35481 ! non-narcotic analgesic relationship: has_role CHEBI:35493 ! antipyretic relationship: has_role CHEBI:50629 ! cyclooxygenase 2 inhibitor relationship: has_role CHEBI:50630 ! cyclooxygenase 1 inhibitor property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H9NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H9NO2/c1-6(10)9-7-2-4-8(11)5-3-7/h2-5,11H,1H3,(H,9,10)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RZVAJINKPMORJF-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "151.16260" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "151.06333" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(=O)Nc1ccc(O)cc1" xsd:string [Term] id: CHEBI:46215 name: O(4')-sulfo-L-tyrosine namespace: chebi_ontology alt_id: CHEBI:21992 alt_id: CHEBI:46078 alt_id: CHEBI:46200 alt_id: CHEBI:46310 def: "An O-sulfoamino acid that is L-tyrosine in which the phenolic hydrogen has been replaced by a sulfo group." [] subset: 3_STAR synonym: "(2S)-2-amino-3-[4-(sulfooxy)phenyl]propanoic acid" RELATED [IUPAC] synonym: "(2S)-2-azanyl-3-(4-sulfooxyphenyl)propanoic acid" RELATED [PDBeChem] synonym: "L-Tyrosine O-sulfate" RELATED [ChemIDplus] synonym: "O-sulfo-L-tyrosine" RELATED [PDBeChem] synonym: "Sulfotyrosine" RELATED [ChemIDplus] synonym: "Tyrosine O-sulfate" RELATED [ChemIDplus] synonym: "Tyrosine sulfate" RELATED [ChemIDplus] xref: CAS:956-46-7 {source="ChemIDplus"} xref: LINCS:LSM-36390 xref: PDBeChem:TYS xref: PMID:26449609 {source="Europe PMC"} xref: Reaxys:2221342 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H11NO6S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H11NO6S/c10-8(9(11)12)5-6-1-3-7(4-2-6)16-17(13,14)15/h1-4,8H,5,10H2,(H,11,12)(H,13,14,15)/t8-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CIQHWLTYGMYQQR-QMMMGPOBSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "261.253" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "261.03071" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O=C(O)[C@@H](N)CC=1C=CC(=CC1)OS(O)(=O)=O" xsd:string [Term] id: CHEBI:46345 name: 5-fluorouracil namespace: chebi_ontology alt_id: CHEBI:2054 alt_id: CHEBI:46343 def: "A nucleobase analogue that is uracil in which the hydrogen at position 5 is replaced by fluorine. It is an antineoplastic agent which acts as an antimetabolite - following conversion to the active deoxynucleotide, it inhibits DNA synthesis (by blocking the conversion of deoxyuridylic acid to thymidylic acid by the cellular enzyme thymidylate synthetase) and so slows tumour growth." [] subset: 3_STAR synonym: "5-Fluoracil" RELATED [ChemIDplus] synonym: "5-fluoropyrimidine-2,4(1H,3H)-dione" EXACT IUPAC_NAME [IUPAC] synonym: "5-Fluoropyrimidine-2,4-dione" RELATED [ChemIDplus] synonym: "5-Fluorouracil" EXACT [KEGG_COMPOUND] synonym: "5-fluorouracil" EXACT IUPAC_NAME [IUPAC] synonym: "5-FU" RELATED [KEGG_COMPOUND] synonym: "Fluorouracil" RELATED [KEGG_COMPOUND] synonym: "fluorouracil" RELATED INN [ChemIDplus] synonym: "fluorouracil" RELATED INN [WHO_MedNet] synonym: "fluorouracilo" RELATED INN [ChemIDplus] synonym: "fluorouracilum" RELATED INN [ChemIDplus] xref: Beilstein:127172 {source="Beilstein"} xref: CAS:51-21-8 {source="ChemIDplus"} xref: CAS:51-21-8 {source="KEGG COMPOUND"} xref: ChEMBL:468538 xref: ChemIDplus:51-21-8 xref: Drug_Central:26 {source="DrugCentral"} xref: DrugBank:DB00544 xref: HMDB:HMDB0014684 xref: KEGG COMPOUND:51-21-8 xref: KEGG COMPOUND:C07649 xref: KEGG:C07649 xref: KEGG:D00584 xref: LINCS:LSM-4261 xref: MeSH:D005472 xref: NCIt:C505 xref: PDBeChem:URF xref: PMID:11356943 {source="Europe PMC"} xref: PMID:12520460 {source="Europe PMC"} xref: PMID:14769231 {source="Europe PMC"} xref: PMID:19023200 {source="Europe PMC"} xref: Reaxys:127172 {source="Reaxys"} xref: SNOMEDCT:3127006 xref: SNOMEDCT:387172005 xref: Wikipedia:Fluorouracil is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:35221 ! antimetabolite relationship: has_role CHEBI:35610 ! antineoplastic agent relationship: has_role CHEBI:35705 ! immunosuppressive agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H3FN2O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H3FN2O2/c5-2-1-6-4(9)7-3(2)8/h1H,(H2,6,7,8,9)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GHASVSINZRGABV-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "130.07730" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "130.01786" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Fc1c[nH]c(=O)[nH]c1=O" xsd:string [Term] id: CHEBI:46548 name: zardaverine namespace: chebi_ontology def: "A pyridazinone derivative in which pyridazin-3(2H)-one is substituted at C-6 with a 4-(difluoromethoxy)-3-methoxyphenyl group. It is a phosphodiesterase inhibitor, selective for PDE3 and 4." [] subset: 3_STAR synonym: "6-(4-(Difluoromethoxy)-3-methoxyphenyl)-3(2H)-pyridazinone" RELATED [ChemIDplus] synonym: "6-(4-DIFLUOROMETHOXY-3-METHOXY-PHENYL)-2H-PYRIDAZIN-3-ONE" RELATED [PDBeChem] synonym: "6-[4-(difluoromethoxy)-3-methoxyphenyl]pyridazin-3(2H)-one" EXACT IUPAC_NAME [IUPAC] synonym: "zardaverina" RELATED INN [ChemIDplus] synonym: "zardaverine" RELATED INN [ChemIDplus] synonym: "zardaverinum" RELATED INN [ChemIDplus] xref: CAS:101975-10-4 {source="ChemIDplus"} xref: ChemIDplus:101975-10-4 xref: CiteXplore:12387865 xref: CiteXplore:12952271 xref: CiteXplore:1426207 xref: CiteXplore:1648920 xref: CiteXplore:1665311 xref: CiteXplore:1700309 xref: CiteXplore:1723951 xref: CiteXplore:1787170 xref: CiteXplore:7644776 xref: CiteXplore:7684572 xref: CiteXplore:7925141 xref: CiteXplore:8035322 xref: CiteXplore:8369979 xref: CiteXplore:8381357 xref: CiteXplore:8392340 xref: LINCS:LSM-2833 xref: MeSH:C066436 xref: NCIt:C66686 xref: PDBeChem:ZAR xref: PMID:12387865 {source="Europe PMC"} xref: PMID:12952271 {source="Europe PMC"} xref: PMID:1426207 {source="Europe PMC"} xref: PMID:1648920 {source="Europe PMC"} xref: PMID:1665311 {source="Europe PMC"} xref: PMID:1700309 {source="Europe PMC"} xref: PMID:1723951 {source="Europe PMC"} xref: PMID:1787170 {source="Europe PMC"} xref: PMID:7644776 {source="Europe PMC"} xref: PMID:7684572 {source="Europe PMC"} xref: PMID:7925141 {source="Europe PMC"} xref: PMID:8035322 {source="Europe PMC"} xref: PMID:8369979 {source="Europe PMC"} xref: PMID:8381357 {source="Europe PMC"} xref: PMID:8392340 {source="Europe PMC"} is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12H10F2N2O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C12H10F2N2O3/c1-18-10-6-7(2-4-9(10)19-12(13)14)8-3-5-11(17)16-15-8/h2-6,12H,1H3,(H,16,17)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HJMQDJPMQIHLPB-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "268.21620" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "268.06595" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "COc1cc(ccc1OC(F)F)-c1ccc(=O)[nH]n1" xsd:string [Term] id: CHEBI:4657 name: disopyramide namespace: chebi_ontology def: "A monocarboxylic acid amide that is butanamide substituted by a diisopropylamino group at position 4, a phenyl group at position 2 and a pyridin-2-yl group at position 2. It is used as a anti-arrhythmia drug." [] subset: 3_STAR synonym: "4-(diisopropylamino)-2-phenyl-2-pyridin-2-ylbutanamide" EXACT IUPAC_NAME [IUPAC] synonym: "alpha-(2-(Diisopropylamino)ethyl)-alpha-phenyl-2-pyridineacetamide" RELATED [ChemIDplus] synonym: "disopiramida" RELATED INN [ChemIDplus] synonym: "disopyramide" RELATED INN [ChemIDplus] synonym: "disopyramidum" RELATED INN [ChemIDplus] synonym: "gamma-Diisopropylamino-alpha-phenyl-alpha-(2-pyridyl)butyramide" RELATED [ChemIDplus] xref: Beilstein:492056 {source="Beilstein"} xref: CAS:3737-09-5 {source="ChemIDplus"} xref: Drug_Central:926 {source="DrugCentral"} xref: DrugBank:DB00280 xref: KEGG:C06965 xref: KEGG:D00303 xref: LINCS:LSM-1439 xref: Patent:BE617730 xref: Patent:US3225054 xref: PMID:16842817 {source="Europe PMC"} xref: PMID:24502246 {source="Europe PMC"} xref: Reaxys:492056 {source="Reaxys"} xref: Wikipedia:Disopyramide is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C21H29N3O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C21H29N3O/c1-16(2)24(17(3)4)15-13-21(20(22)25,18-10-6-5-7-11-18)19-12-8-9-14-23-19/h5-12,14,16-17H,13,15H2,1-4H3,(H2,22,25)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UVTNFZQICZKOEM-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "339.47458" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "339.23106" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)N(CCC(C(N)=O)(c1ccccc1)c1ccccn1)C(C)C" xsd:string [Term] id: CHEBI:4659 name: disulfiram namespace: chebi_ontology def: "An organic disulfide that results from the formal oxidative dimerisation of N,N-diethyldithiocarbamic acid. A multi-enzyme inhibitor that is used in alcohol aversion therapy and also exhibits anticancer properties." [] subset: 3_STAR synonym: "1,1',1'',1'''-[disulfanediylbis(carbonothioylnitrilo)]tetraethane" EXACT IUPAC_NAME [IUPAC] synonym: "1,1'-dithiobis(N,N-diethylthioformamide)" RELATED [ChemIDplus] synonym: "Antabuse" RELATED [KEGG_DRUG] synonym: "bis(diethylthiocarbamoyl) disulfide" RELATED [ChemIDplus] synonym: "Disulfiram" EXACT [KEGG_COMPOUND] synonym: "N,N,N',N'-tetraethylthiuram disulfide" RELATED [NIST_Chemistry_WebBook] synonym: "tetraethylthioperoxydicarbonic diamide" RELATED [ChemIDplus] synonym: "Tetraethylthiuram disulfide" RELATED [KEGG_COMPOUND] synonym: "tetraethylthiuram disulfide" RELATED [ChemIDplus] synonym: "tetraethylthiuram disulphide" RELATED [NIST_Chemistry_WebBook] xref: CAS:97-77-8 {source="ChemIDplus"} xref: CAS:97-77-8 {source="NIST Chemistry WebBook"} xref: CAS:97-77-8 {source="KEGG COMPOUND"} xref: Drug_Central:928 {source="DrugCentral"} xref: DrugBank:DB00822 xref: HMDB:HMDB0014960 xref: KEGG:C01692 xref: KEGG:D00131 xref: LINCS:LSM-5467 xref: MetaCyc:DISULFIRAM xref: Pesticides:disulfiram {source="Alan Wood's Pesticides"} xref: PMID:10841824 {source="Europe PMC"} xref: PMID:11005259 {source="Europe PMC"} xref: PMID:11716515 {source="Europe PMC"} xref: PMID:14978246 {source="Europe PMC"} xref: PMID:15325261 {source="Europe PMC"} xref: PMID:15709459 {source="Europe PMC"} xref: PMID:16426571 {source="Europe PMC"} xref: PMID:16661923 {source="Europe PMC"} xref: PMID:16666414 {source="Europe PMC"} xref: PMID:16880974 {source="Europe PMC"} xref: PMID:17079463 {source="Europe PMC"} xref: PMID:17579916 {source="Europe PMC"} xref: PMID:17667894 {source="Europe PMC"} xref: PMID:18579431 {source="Europe PMC"} xref: PMID:19720750 {source="Europe PMC"} xref: PMID:19782464 {source="Europe PMC"} xref: PMID:19787200 {source="Europe PMC"} xref: PMID:21471244 {source="Europe PMC"} xref: PMID:24496638 {source="Europe PMC"} xref: PMID:25133664 {source="Europe PMC"} xref: PMID:25445071 {source="Europe PMC"} xref: PMID:25464072 {source="Europe PMC"} xref: PMID:25476326 {source="Europe PMC"} xref: PMID:25495604 {source="Europe PMC"} xref: PMID:25557293 {source="Europe PMC"} xref: PMID:25565438 {source="Europe PMC"} xref: PMID:25657800 {source="Europe PMC"} xref: PMID:25777347 {source="Europe PMC"} xref: PMID:26033731 {source="Europe PMC"} xref: PMID:26224731 {source="Europe PMC"} xref: PMID:26235918 {source="Europe PMC"} xref: PMID:26239994 {source="Europe PMC"} xref: PMID:26314552 {source="Europe PMC"} xref: PMID:26517513 {source="Europe PMC"} xref: PMID:26550292 {source="Europe PMC"} xref: PMID:31151194 {source="Europe PMC"} xref: PMID:32963852 {source="Europe PMC"} xref: PMID:32971817 {source="Europe PMC"} xref: PMID:33731397 {source="Europe PMC"} xref: PMID:34012274 {source="Europe PMC"} xref: PMID:34045896 {source="Europe PMC"} xref: PMID:8442800 {source="Europe PMC"} xref: PMID:8572926 {source="Europe PMC"} xref: Reaxys:1712560 {source="Reaxys"} xref: Wikipedia:Disulfiram is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H20N2S4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H20N2S4/c1-5-11(6-2)9(13)15-16-10(14)12(7-3)8-4/h5-8H2,1-4H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "AUZONCFQVSMFAP-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "296.544" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "296.05093" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "S(SC(N(CC)CC)=S)C(N(CC)CC)=S" xsd:string [Term] id: CHEBI:46661 name: asbestos namespace: chebi_ontology def: "Fibrous incombustible mineral composed of magnesium and calcium silicates with or without other elements." [] subset: 3_STAR synonym: "Asbest" RELATED [ChemIDplus] synonym: "asbesto" RELATED [ChEBI] synonym: "asbestos" EXACT [ChemIDplus] xref: CAS:1332-21-4 {source="ChemIDplus"} xref: CAS:1332-21-4 {source="KEGG COMPOUND"} xref: KEGG:C16442 xref: MeSH:D001194 xref: NCIt:C284 xref: SNOMEDCT:16369005 is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:46793 name: poly(ethylene glycol) namespace: chebi_ontology alt_id: CHEBI:53230 def: "A polymer composed of repeating ethyleneoxy units." [] subset: 3_STAR synonym: "1,2-ethanediol homopolymer" RELATED [ChemIDplus] synonym: "alpha,omega-hydroxypoly(ethylene oxide)" RELATED [NIST_Chemistry_WebBook] synonym: "alpha-hydro-omega-hydroxypoly(oxy-1,2-ethanediyl)" RELATED [NIST_Chemistry_WebBook] synonym: "alpha-hydro-omega-hydroxypoly(oxyethylene)" EXACT IUPAC_NAME [IUPAC] synonym: "alpha-hydro-omega-hydroxypoly(oxyethylene)" RELATED [NIST_Chemistry_WebBook] synonym: "ethylene glycol homopolymer" RELATED [ChemIDplus] synonym: "ethylene glycol polymer" RELATED [ChemIDplus] synonym: "Glycols, polyethylene" RELATED [ChemIDplus] synonym: "Macrogol" RELATED [ChemIDplus] synonym: "PEG" RELATED [ChEBI] synonym: "PEG" RELATED [ChemIDplus] synonym: "PEO" RELATED [SUBMITTER] synonym: "POE" RELATED [SUBMITTER] synonym: "poly(ethyleneoxide)" RELATED [SUBMITTER] synonym: "poly(oxyethylene)" RELATED [SUBMITTER] synonym: "Polyaethylenglykol" RELATED [ChEBI] synonym: "Polyaethylenglykole" RELATED [ChEBI] synonym: "Polyethylene glycol" RELATED [ChemIDplus] synonym: "polyethylene glycol" RELATED [ChEBI] synonym: "polyethylene glycols" RELATED [ChEBI] synonym: "polyethylene oxide" RELATED [SUBMITTER] synonym: "polyoxyethylene" RELATED [SUBMITTER] xref: Beilstein:8197326 {source="Beilstein"} xref: CAS:25322-68-3 {source="ChemIDplus"} xref: CAS:25322-68-3 {source="NIST Chemistry WebBook"} xref: Wikipedia:Polyethylene_glycol is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "(C2H4O)n.H2O" xsd:string [Term] id: CHEBI:46819 name: urate salt namespace: chebi_ontology subset: 1_STAR is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:46828 name: quinolinate(1-) namespace: chebi_ontology def: "A carboxypyridinecarboxylate that is the conjugate base of quinolinic acid." [] subset: 3_STAR synonym: "hydrogen pyridine-2,3-dicarboxylate" EXACT IUPAC_NAME [IUPAC] is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H4NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H5NO4/c9-6(10)4-2-1-3-8-5(4)7(11)12/h1-3H,(H,9,10)(H,11,12)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GJAWHXHKYYXBSV-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "166.11100" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "166.01458" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H+].[O-]C(=O)c1cccnc1C([O-])=O" xsd:string [Term] id: CHEBI:46859 name: polidocanol namespace: chebi_ontology alt_id: CHEBI:34927 alt_id: CHEBI:41445 def: "A hydroxypolyether that is nonaethylene glycol in which one of the terminal hydroxy functions is substituted by a lauryl (dodecyl) group." [] subset: 3_STAR synonym: "3,6,9,12,15,18,21,24,27-nonaoxanonatriacontan-1-ol" EXACT IUPAC_NAME [IUPAC] synonym: "DODECYL NONA ETHYLENE GLYCOL ETHER" RELATED [PDBeChem] synonym: "Nonaethylene glycol monododecyl ether" RELATED [KEGG_COMPOUND] synonym: "nonaethylene glycol monolauryl ether" RELATED [ChEBI] synonym: "Polidocanol" EXACT [KEGG_COMPOUND] xref: Beilstein:1895308 {source="Beilstein"} xref: CAS:3055-99-0 {source="KEGG COMPOUND"} xref: CAS:3055-99-0 {source="ChemIDplus"} xref: KEGG:C13493 xref: PDBeChem:CE9 xref: PMID:15288214 {source="Europe PMC"} xref: PMID:19161266 {source="Europe PMC"} xref: PMID:19912070 {source="Europe PMC"} xref: PMID:20348378 {source="Europe PMC"} xref: PMID:20737152 {source="Europe PMC"} xref: PMID:21111641 {source="Europe PMC"} xref: PMID:21290126 {source="Europe PMC"} xref: PMID:21393261 {source="Europe PMC"} xref: PMID:21557180 {source="Europe PMC"} xref: PMID:21740464 {source="Europe PMC"} xref: PMID:21818522 {source="Europe PMC"} xref: PMID:21849198 {source="Europe PMC"} xref: PMID:22050766 {source="Europe PMC"} xref: PMID:22230599 {source="Europe PMC"} xref: PMID:22238058 {source="Europe PMC"} xref: PMID:22241291 {source="Europe PMC"} xref: PMID:22309639 {source="Europe PMC"} xref: Reaxys:1895308 {source="Reaxys"} xref: Wikipedia:Polidocanol is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C30H62O10" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C30H62O10/c1-2-3-4-5-6-7-8-9-10-11-13-32-15-17-34-19-21-36-23-25-38-27-29-40-30-28-39-26-24-37-22-20-35-18-16-33-14-12-31/h31H,2-30H2,1H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ONJQDTZCDSESIW-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "582.80728" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "582.43430" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCCCCCCOCCOCCOCCOCCOCCOCCOCCOCCOCCO" xsd:string [Term] id: CHEBI:46889 name: S-[2,3-bis(palmitoyloxy)propyl]-Cys-Ser-Lys-Lys-Lys-Lys namespace: chebi_ontology def: "A triacyl lipopeptide that is the pentapeptide Cys-Ser-Lys-Lys-Lys-Lys in which the side-chain thiol hydrogen on the Cys residue has been replaced by a 2,3-bis(palmitoyloxy)propyl group." [] subset: 3_STAR synonym: "Pam2CSK4" RELATED [ChEBI] synonym: "S-[2,3-bis(hexadecanoyloxy)propyl]-L-cysteinyl-L-seryl-L-lysyl-L-lysyl-L-lysyl-L-lysine" EXACT IUPAC_NAME [IUPAC] synonym: "S-[2,3-bis(palmitoyloxy)-(2RS)-propyl]-[R]-cysteinyl-[S]-seryl-[S]-lysyl-[S]-lysyl-[S]-lysyl-[S]-lysine" RELATED [ChEBI] synonym: "S-[2,3-bis(palmitoyloxy)propyl]-L-cysteinyl-L-seryl-L-lysyl-L-lysyl-L-lysyl-L-lysine" RELATED [IUPAC] is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C65H126N10O12S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C65H126N10O12S/c1-3-5-7-9-11-13-15-17-19-21-23-25-27-41-58(77)86-48-51(87-59(78)42-28-26-24-22-20-18-16-14-12-10-8-6-4-2)49-88-50-52(70)60(79)75-57(47-76)64(83)73-54(38-30-34-44-67)62(81)71-53(37-29-33-43-66)61(80)72-55(39-31-35-45-68)63(82)74-56(65(84)85)40-32-36-46-69/h51-57,76H,3-50,66-70H2,1-2H3,(H,71,81)(H,72,80)(H,73,83)(H,74,82)(H,75,79)(H,84,85)/t51?,52-,53-,54-,55-,56-,57-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LJUIOEFZFQRWJG-KKIBDXJDSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "1271.82214" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "1270.92774" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCCCCCCCCCC(=O)OCC(CSC[C@H](N)C(=O)N[C@@H](CO)C(=O)N[C@@H](CCCCN)C(=O)N[C@@H](CCCCN)C(=O)N[C@@H](CCCCN)C(=O)N[C@@H](CCCCN)C(O)=O)OC(=O)CCCCCCCCCCCCCCC" xsd:string [Term] id: CHEBI:46904 name: oxalate(1-) namespace: chebi_ontology def: "A dicarboxylic acid monoanion that is the conjugate base of oxalic acid." [] subset: 3_STAR synonym: "carboxyformate" EXACT IUPAC_NAME [IUPAC] synonym: "Hox" RELATED [IUPAC] synonym: "hydrogen ethanedioate" RELATED [IUPAC] synonym: "hydrogen oxalate" RELATED [ChEBI] xref: Beilstein:3601755 {source="Beilstein"} xref: Gmelin:49515 {source="Gmelin"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C2HO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C2H2O4/c3-1(4)2(5)6/h(H,3,4)(H,5,6)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "MUBZPKHOEPUJKR-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "89.02694" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "88.98803" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)C([O-])=O" xsd:string [Term] id: CHEBI:46938 name: zebularine namespace: chebi_ontology subset: 3_STAR synonym: "1-beta-D-ribofuranosyl-2(1H)-pyrimidinone" RELATED [ChemIDplus] synonym: "1-beta-D-ribofuranosylpyrimidin-2(1H)-one" EXACT IUPAC_NAME [IUPAC] synonym: "pyrimidin-2-one beta-D-ribofuranoside" RELATED [ChemIDplus] synonym: "pyrimidin-2-one beta-ribofuranoside" RELATED [ChemIDplus] synonym: "pyrimidin-2-one ribonucleoside" RELATED [ChemIDplus] synonym: "Zebularine" EXACT [ChemIDplus] xref: Beilstein:751056 {source="Beilstein"} xref: CAS:3690-10-6 {source="ChemIDplus"} xref: DrugBank:DB03068 xref: LINCS:LSM-36362 is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H12N2O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H12N2O5/c12-4-5-6(13)7(14)8(16-5)11-3-1-2-10-9(11)15/h1-3,5-8,12-14H,4H2/t5-,6-,7-,8-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RPQZTTQVRYEKCR-WCTZXXKLSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "228.20206" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "228.07462" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC[C@H]1O[C@H]([C@H](O)[C@@H]1O)n1cccnc1=O" xsd:string [Term] id: CHEBI:47032 name: 1,4-dioxane namespace: chebi_ontology alt_id: CHEBI:34064 alt_id: CHEBI:41951 alt_id: CHEBI:46925 def: "A dioxane with oxygen atoms at positions 1 and 4." [] subset: 3_STAR synonym: "1,4-DIETHYLENE DIOXIDE" RELATED [PDBeChem] synonym: "1,4-dioxacyclohexane" RELATED [ChemIDplus] synonym: "1,4-Dioxan" RELATED [NIST_Chemistry_WebBook] synonym: "1,4-Dioxane" EXACT [KEGG_COMPOUND] synonym: "1,4-dioxane" EXACT IUPAC_NAME [IUPAC] synonym: "di(ethylene oxide)" RELATED [ChemIDplus] synonym: "Dioxan-1,4" RELATED [ChemIDplus] synonym: "dioxane-1,4" RELATED [ChemIDplus] synonym: "glycol ethylene ether" RELATED [ChemIDplus] synonym: "p-Dioxane" RELATED [KEGG_COMPOUND] synonym: "tetrahydro-1,4-dioxin" RELATED [NIST_Chemistry_WebBook] synonym: "tetrahydro-p-dioxin" RELATED [ChemIDplus] synonym: "tetrahydro-para-dioxin" RELATED [ChemIDplus] xref: Beilstein:102551 {source="Beilstein"} xref: CAS:123-91-1 {source="ChemIDplus"} xref: CAS:123-91-1 {source="NIST Chemistry WebBook"} xref: CAS:123-91-1 {source="KEGG COMPOUND"} xref: DrugBank:DB03316 xref: KEGG:C14440 xref: LINCS:LSM-37087 xref: PDBeChem:DIO xref: PMID:14550759 {source="Europe PMC"} xref: PMID:18044507 {source="Europe PMC"} xref: PMID:20598439 {source="Europe PMC"} xref: PPDB:1638 xref: Reaxys:102551 {source="Reaxys"} xref: Wikipedia:1\,4-Dioxane is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H8O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H8O2/c1-2-6-4-3-5-1/h1-4H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RYHBNJHYFVUHQT-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "88.10512" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "88.05243" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C1COCCO1" xsd:string [Term] id: CHEBI:47381 name: diclofenac namespace: chebi_ontology alt_id: CHEBI:4507 alt_id: CHEBI:47380 def: "A monocarboxylic acid consisting of phenylacetic acid having a (2,6-dichlorophenyl)amino group at the 2-position." [] subset: 3_STAR synonym: "2-((2,6-dichlorophenyl)amino)benzeneacetic acid" RELATED [ChemIDplus] synonym: "2-[(2,6-dichlorophenyl)amino]benzeneacetic acid" EXACT IUPAC_NAME [IUPAC] synonym: "[2-(2,6-dichloroanilino)phenyl]acetic acid" RELATED [NIST_Chemistry_WebBook] synonym: "Diclofenac" EXACT [KEGG_COMPOUND] synonym: "diclofenac" RELATED INN [ChemIDplus] synonym: "diclofenac acid" RELATED [ChemIDplus] synonym: "diclofenaco" RELATED INN [ChemIDplus] synonym: "diclofenacum" RELATED INN [ChemIDplus] synonym: "diclofenamic acid" RELATED [DrugCentral] synonym: "{2-[(2,6-dichlorophenyl)amino]phenyl}acetic acid" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:2146636 {source="Beilstein"} xref: CAS:15307-86-5 {source="NIST Chemistry WebBook"} xref: CAS:15307-86-5 {source="ChemIDplus"} xref: CAS:15307-86-5 {source="KEGG COMPOUND"} xref: Drug_Central:865 {source="DrugCentral"} xref: DrugBank:DB00586 xref: HMDB:HMDB0014724 xref: KEGG:C01690 xref: KEGG:D07816 xref: LINCS:LSM-2160 xref: MeSH:D004008 xref: NCIt:C28985 xref: Patent:NL6604752 xref: Patent:US3558690 xref: PDBeChem:DIF xref: PMID:11322639 {source="Europe PMC"} xref: PMID:1502708 {source="Europe PMC"} xref: PMID:23777257 {source="Europe PMC"} xref: PMID:27967303 {source="Europe PMC"} xref: PMID:7838674 {source="Europe PMC"} xref: Reaxys:2146636 {source="Reaxys"} xref: SNOMEDCT:7034005 xref: VSDB:1933 xref: Wikipedia:Diclofenac is_a: CHEBI:33709 ! amino acid relationship: has_role CHEBI:35472 ! anti-inflammatory drug property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C14H11Cl2NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C14H11Cl2NO2/c15-10-5-3-6-11(16)14(10)17-12-7-2-1-4-9(12)8-13(18)19/h1-7,17H,8H2,(H,18,19)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DCOPUUMXTXDBNB-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "296.150" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "295.01668" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C1(Cl)=CC=CC(=C1NC2=CC=CC=C2CC(=O)O)Cl" xsd:string [Term] id: CHEBI:474053 name: cefazolin namespace: chebi_ontology alt_id: CHEBI:3482 def: "A first-generation cephalosporin compound having [(5-methyl-1,3,4-thiadiazol-2-yl)sulfanyl]methyl and (1H-tetrazol-1-ylacetyl)amino side-groups at positions 3 and 7 respectively." [] subset: 3_STAR synonym: "(6R,7R)-3-{[(5-methyl-1,3,4-thiadiazol-2-yl)sulfanyl]methyl}-8-oxo-7-[(1H-tetrazol-1-ylacetyl)amino]-5-thia-1-azabicyclo[4.2.0]oct-2-ene-2-carboxylic acid" RELATED [IUPAC] synonym: "3-{[(5-methyl-1,3,4-thiadiazol-2-yl)sulfanyl]methyl}-7beta-[(1H-tetrazol-1-ylacetyl)amino]-3,4-didehydrocepham-4-carboxylic acid" EXACT IUPAC_NAME [IUPAC] synonym: "Cefamezin" RELATED [ChemIDplus] synonym: "cefazolin" RELATED INN [ChemIDplus] synonym: "cefazolina" RELATED INN [ChemIDplus] synonym: "cefazoline" RELATED INN [ChemIDplus] synonym: "cefazolinum" RELATED INN [ChemIDplus] synonym: "Cephamezine" RELATED [ChemIDplus] synonym: "Cephazolidin" RELATED [ChemIDplus] synonym: "Cephazolin" RELATED [ChemIDplus] synonym: "Cephazoline" RELATED [ChemIDplus] synonym: "CEZ" RELATED [ChEBI] xref: Beilstein:4169371 {source="Beilstein"} xref: CAS:25953-19-9 {source="KEGG DRUG"} xref: CAS:25953-19-9 {source="ChemIDplus"} xref: CAS:25953-19-9 {source="KEGG COMPOUND"} xref: CAS:25953-19-9 {source="DrugBank"} xref: Drug_Central:530 {source="DrugCentral"} xref: DrugBank:DB01327 xref: HMDB:HMDB0015422 xref: KEGG:C06880 xref: KEGG:D02299 xref: LINCS:LSM-34744 xref: MeSH:D002437 xref: NCIt:C28913 xref: Patent:US3516997 xref: PMID:12569987 {source="Europe PMC"} xref: PMID:2083978 {source="Europe PMC"} xref: PMID:22011388 {source="Europe PMC"} xref: PMID:23702270 {source="Europe PMC"} xref: PMID:24462449 {source="Europe PMC"} xref: PMID:28543395 {source="Europe PMC"} xref: PMID:29017833 {source="Europe PMC"} xref: PMID:6176550 {source="Europe PMC"} xref: Reaxys:4169371 {source="Reaxys"} xref: SNOMEDCT:81088002 xref: VSDB:1910 xref: Wikipedia:Cefazolin is_a: CHEBI:35627 ! beta-lactam relationship: has_role CHEBI:33281 ! antimicrobial agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C14H14N8O4S3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C14H14N8O4S3/c1-6-17-18-14(29-6)28-4-7-3-27-12-9(11(24)22(12)10(7)13(25)26)16-8(23)2-21-5-15-19-20-21/h5,9,12H,2-4H2,1H3,(H,16,23)(H,25,26)/t9-,12-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "MLYYVTUWGNIJIB-BXKDBHETSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "454.511" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "454.03001" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C@]12(N(C(=C(CS1)CSC3=NN=C(S3)C)C(=O)O)C([C@H]2NC(=O)CN4C=NN=N4)=O)[H]" xsd:string [Term] id: CHEBI:474180 name: caspofungin namespace: chebi_ontology alt_id: CHEBI:599509 def: "A semisynthetic cyclic hexapeptide echinocandin antibiotic which exerts its effect by inhibiting the synthesis of 1,3-beta-D-glucan, an integral component of the fungal cell wall." [] subset: 3_STAR synonym: "(10R,12S)-N-{(2R,6S,9S,11R,12S,14aS,15S,20S,23S,25aS)-12-[(2-aminoethyl)amino]-20-[(1R)-3-amino-1-hydroxypropyl]-23-[(1S,2S)-1,2-dihydroxy-2-(4-hydroxyphenyl)ethyl]-2,11,15-trihydroxy-6-[(1R)-1-hydroxyethyl]-5,8,14,19,22,25-hexaoxotetracosahydro-1H-dipyrrolo[2,1-c:2',1'-l][1,4,7,10,13,16]hexaazacyclohenicosin-9-yl}-10,12-dimethyltetradecanamide" EXACT IUPAC_NAME [IUPAC] synonym: "(4R,5S)-5-((2-aminoethyl)amino)-N(2)-(10,12-dimethyltetradecanoyl)-4-hydroxy-L-ornithyl-L-threonyl-trans-4-hydroxy-L-prolyl-(S)-4-hydroxy-4-(p-hydroxyphenyl)-L-threonyl-threo-3-hydroxy-L-ornithyl-trans-3-hydroxy-L-proline cyclic (6-1)-peptide" RELATED [ChemIDplus] synonym: "1-[(4R,5S)-5-[(2-aminoethyl)amino]-N(2)-(10,12-dimethyl-1-oxotetradecyl)-4-hydroxy-L-ornithine]-5-[(3R)-3-hydroxy-L-ornithine]-pneumocandin B0" RELATED [ChEBI] synonym: "Caspofungin" EXACT [ChEMBL] synonym: "caspofungin" RELATED INN [ChemIDplus] xref: Beilstein:8471798 {source="Beilstein"} xref: CAS:162808-62-0 {source="KEGG DRUG"} xref: CAS:162808-62-0 {source="ChemIDplus"} xref: Drug_Central:2977 {source="DrugCentral"} xref: DrugBank:DB00520 xref: KEGG:D07626 xref: MeSH:C105417 xref: NCIt:C28910 xref: Patent:US5378804 xref: Patent:WO9421677 xref: PMID:24270605 {source="Europe PMC"} xref: SNOMEDCT:407732005 xref: SNOMEDCT:413770001 is_a: CHEBI:18059 ! lipid relationship: has_role CHEBI:24127 ! fungicide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C52H88N10O15" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C52H88N10O15/c1-5-28(2)24-29(3)12-10-8-6-7-9-11-13-39(69)56-34-26-38(68)46(55-22-21-54)60-50(75)43-37(67)19-23-61(43)52(77)41(36(66)18-20-53)58-49(74)42(45(71)44(70)31-14-16-32(64)17-15-31)59-48(73)35-25-33(65)27-62(35)51(76)40(30(4)63)57-47(34)72/h14-17,28-30,33-38,40-46,55,63-68,70-71H,5-13,18-27,53-54H2,1-4H3,(H,56,69)(H,57,72)(H,58,74)(H,59,73)(H,60,75)/t28-,29+,30+,33+,34-,35-,36+,37-,38+,40-,41-,42-,43-,44-,45-,46-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JYIKNQVWKBUSNH-WVDDFWQHSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "1093.315" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "1092.64306" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C@@]12(N(C[C@@H](C1)O)C([C@H]([C@@H](C)O)NC(=O)[C@](C[C@H]([C@@H](NCCN)NC([C@@H]3[C@H](CCN3C([C@H]([C@@H](CCN)O)NC(=O)[C@H]([C@@H]([C@H](C4=CC=C(C=C4)O)O)O)NC2=O)=O)O)=O)O)(NC(CCCCCCCC[C@H](C[C@H](CC)C)C)=O)[H])=O)[H]" xsd:string [Term] id: CHEBI:47426 name: furosemide namespace: chebi_ontology alt_id: CHEBI:47425 alt_id: CHEBI:5198 def: "A chlorobenzoic acid that is 4-chlorobenzoic acid substituted by a (furan-2-ylmethyl)amino and a sulfamoyl group at position 2 and 5 respectively. It is a diuretic used in the treatment of congestive heart failure." [] subset: 3_STAR synonym: "2-Furfurylamino-4-chloro-5-sulfamoylbenzoic acid" RELATED [ChemIDplus] synonym: "4-chloro-2-{[(furan-2-yl)methyl]amino}-5-sulfamoylbenzoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "4-Chloro-5-sulfamoyl-N-furfuryl-anthranilic acid" RELATED [ChemIDplus] synonym: "4-Chloro-N-(2-furylmethyl)-5-sulfamoylanthranilic acid" RELATED [ChemIDplus] synonym: "4-Chloro-N-furfuryl-5-sulfamoylanthranilic acid" RELATED [ChemIDplus] synonym: "Frusemide" RELATED [KEGG_DRUG] synonym: "Furosemide" EXACT [KEGG_DRUG] synonym: "Lasix (TN)" RELATED [KEGG_DRUG] xref: CAS:54-31-9 {source="ChemIDplus"} xref: CAS:54-31-9 {source="KEGG DRUG"} xref: Drug_Central:1258 {source="DrugCentral"} xref: DrugBank:DB00695 xref: HMDB:HMDB0001933 xref: KEGG:D00331 xref: LINCS:LSM-5847 xref: PMID:15286542 {source="Europe PMC"} xref: PMID:18701232 {source="Europe PMC"} xref: Reaxys:1399731 {source="Reaxys"} xref: VSDB:1770 xref: Wikipedia:Furosemide is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12H11ClN2O5S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C12H11ClN2O5S/c13-9-5-10(15-6-7-2-1-3-20-7)8(12(16)17)4-11(9)21(14,18)19/h1-5,15H,6H2,(H,16,17)(H2,14,18,19)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ZZUFCTLCJUWOSV-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "330.74400" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "330.00772" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NS(=O)(=O)c1cc(C(O)=O)c(NCc2ccco2)cc1Cl" xsd:string [Term] id: CHEBI:47499 name: imipramine namespace: chebi_ontology alt_id: CHEBI:47498 alt_id: CHEBI:5881 def: "A dibenzoazepine that is 5H-dibenzo[b,f]azepine substituted by a 3-(dimethylamino)propyl group at the nitrogen atom." [] subset: 3_STAR synonym: "10,11-dihydro-N,N-dimethyl-5H-dibenz[b,f]azepine-5-propanamine" RELATED [NIST_Chemistry_WebBook] synonym: "3-(10,11-dihydro-5H-dibenzo[b,f]azepin-5-yl)-N,N-dimethylpropan-1-amine" EXACT IUPAC_NAME [IUPAC] synonym: "3-(5H-DIBENZO[B,F]AZEPIN-5-YL)-N,N-DIMETHYLPROPAN-1-AMINE" RELATED [PDBeChem] synonym: "5-[3-(dimethylamino)propyl]-10,11-dihydro-5H-dibenz[b,f]azepine" RELATED [NIST_Chemistry_WebBook] synonym: "Antideprin" RELATED BRAND_NAME [DrugBank] synonym: "Imipramin" RELATED [ChEBI] synonym: "Imipramine" EXACT [KEGG_COMPOUND] synonym: "imipramine" RELATED INN [ChemIDplus] synonym: "imipraminum" RELATED INN [ChemIDplus] synonym: "imizine" RELATED [NIST_Chemistry_WebBook] synonym: "Irmin" RELATED BRAND_NAME [ChemIDplus] synonym: "Melipramine" RELATED BRAND_NAME [ChemIDplus] synonym: "N-(gamma-dimethylaminopropyl)iminodibenzyl" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:256892 {source="Beilstein"} xref: CAS:50-49-7 {source="ChemIDplus"} xref: CAS:50-49-7 {source="NIST Chemistry WebBook"} xref: CAS:50-49-7 {source="KEGG COMPOUND"} xref: ChEMBL:100605 xref: ChemIDplus:50-49-7 xref: Drug_Central:1427 {source="DrugCentral"} xref: DrugBank:DB00458 xref: Gmelin:1572523 {source="Gmelin"} xref: HMDB:HMDB0001848 xref: KEGG COMPOUND:50-49-7 xref: KEGG COMPOUND:C07049 xref: KEGG:C07049 xref: KEGG:D08070 xref: LINCS:LSM-2852 xref: MeSH:D007099 xref: NCIt:C62039 xref: NIST Chemistry WebBook:50-49-7 xref: Patent:US2554736 xref: PDBeChem:IXX xref: PMID:20825390 {source="Europe PMC"} xref: Reaxys:256892 {source="Reaxys"} xref: SNOMEDCT:36113004 xref: SNOMEDCT:372718005 xref: Wikipedia:Imipramine is_a: CHEBI:47804 ! dibenzoazepine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H24N2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H24N2/c1-20(2)14-7-15-21-18-10-5-3-8-16(18)12-13-17-9-4-6-11-19(17)21/h3-6,8-11H,7,12-15H2,1-2H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BCGWQEUPMDMJNV-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "280.40734" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "280.19395" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN(C)CCCN1c2ccccc2CCc2ccccc12" xsd:string [Term] id: CHEBI:47519 name: ketoconazole namespace: chebi_ontology alt_id: CHEBI:6126 def: "A racemate consisting of equimolar amounts of (2R,4S)- and (2S,4R)-ketoconazole." [] subset: 3_STAR synonym: "(+-)-cis-1-acetyl-4-(p-((2-(2,4-dichlorophenyl)-2-(imidazol-1-ylmethyl)-1,3-dioxolan-4-yl)methoxy)phenyl)piperazine" RELATED [ChemIDplus] synonym: "cis-1-acetyl-4-(4-((2-(2,4-dichlorophenyl)-2-(1H-imidazol-1-ylmethyl)-1,3-dioxolan-4-yl)methoxy)phenyl)piperazine" RELATED [ChemIDplus] synonym: "Fungarest" RELATED BRAND_NAME [DrugBank] synonym: "Fungoral" RELATED BRAND_NAME [DrugBank] synonym: "ketoconazol" RELATED INN [WHO_MedNet] synonym: "ketoconazole" RELATED INN [ChemIDplus] synonym: "ketoconazole" RELATED INN [WHO_MedNet] synonym: "ketoconazolum" RELATED INN [ChemIDplus] synonym: "Ketoderm" RELATED BRAND_NAME [DrugBank] synonym: "Ketoisdin" RELATED BRAND_NAME [DrugBank] synonym: "Nizoral" RELATED BRAND_NAME [KEGG_DRUG] synonym: "Panfungol" RELATED BRAND_NAME [DrugBank] synonym: "rac-1-acetyl-4-(4-{[(2R,4S)-2-(2,4-dichlorophenyl)-2-(1H-imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy}phenyl)piperazine" EXACT IUPAC_NAME [IUPAC] synonym: "Xolegel" RELATED BRAND_NAME [KEGG_DRUG] xref: Beilstein:4303081 {source="ChemIDplus"} xref: CAS:65277-42-1 {source="ChemIDplus"} xref: CAS:65277-42-1 {source="KEGG DRUG"} xref: DrugBank:DB01026 xref: Gmelin:1713206 {source="Gmelin"} xref: HMDB:HMDB0012242 xref: KEGG:D00351 xref: Patent:DE2804096 xref: Patent:US4144346 is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C26H28Cl2N4O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "531.43048" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "530.14876" xsd:string [Term] id: CHEBI:47612 name: bezafibrate namespace: chebi_ontology alt_id: CHEBI:31284 alt_id: CHEBI:47611 def: "A monocarboxylic acid amide obtained by the formal condensation of the carboxy group of 4-chlorobenzoic acid with the amino group of 2-[4-(2-aminoethyl)phenoxy]-2-methylpropanoic acid. Benafibrate is used for the treatment of hyperlipidaemia." [] subset: 3_STAR synonym: "2-(p-(2-(p-Chlorobenzamido)ethyl)phenoxy)-2-methylpropionic acid" RELATED [ChemIDplus] synonym: "2-{4-[2-(4-chlorobenzamido)ethyl]phenoxy}-2-methylpropanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "Befizal" RELATED BRAND_NAME [DrugBank] synonym: "bezafibrate" RELATED INN [ChemIDplus] synonym: "bezafibrato" RELATED INN [DrugBank] synonym: "bezafibratum" RELATED INN [DrugBank] synonym: "Bezalip" RELATED BRAND_NAME [DrugBank] synonym: "Bezatol SR (TN)" RELATED [KEGG_DRUG] synonym: "Cedur" RELATED [ChEBI] xref: CAS:41859-67-0 {source="ChemIDplus"} xref: CAS:41859-67-0 {source="KEGG DRUG"} xref: Chemspider:35728 xref: Drug_Central:362 {source="DrugCentral"} xref: DrugBank:DB01393 xref: HMDB:HMDB0015465 xref: KEGG:D01366 xref: LINCS:LSM-3015 xref: Patent:DE2149070 xref: Patent:US3781328 xref: PDBeChem:PEM xref: PMID:12122004 {source="Europe PMC"} xref: PMID:12782154 {source="Europe PMC"} xref: PMID:17379010 {source="Europe PMC"} xref: PMID:18787029 {source="Europe PMC"} xref: PMID:19131462 {source="Europe PMC"} xref: PMID:23603800 {source="Europe PMC"} xref: PMID:28931607 {source="Europe PMC"} xref: PMID:32107855 {source="Europe PMC"} xref: PMID:32509533 {source="Europe PMC"} xref: PMID:32721217 {source="Europe PMC"} xref: PMID:32798077 {source="Europe PMC"} xref: PMID:32976735 {source="Europe PMC"} xref: PMID:33205029 {source="Europe PMC"} xref: PMID:33549744 {source="Europe PMC"} xref: PMID:34447954 {source="Europe PMC"} xref: Reaxys:4267656 {source="Reaxys"} xref: Wikipedia:Bezafibrate is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H20ClNO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H20ClNO4/c1-19(2,18(23)24)25-16-9-3-13(4-10-16)11-12-21-17(22)14-5-7-15(20)8-6-14/h3-10H,11-12H2,1-2H3,(H,21,22)(H,23,24)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IIBYAHWJQTYFKB-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "361.820" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "361.10809" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)(OC1=CC=C(CCNC(=O)C2=CC=C(Cl)C=C2)C=C1)C(O)=O" xsd:string [Term] id: CHEBI:47775 name: high-density lipoprotein cholesterol namespace: chebi_ontology def: "Cholesterol esters and free cholesterol which are contained in or bound to high-density lipoproteins (HDL)." [] subset: 3_STAR synonym: "alpha-lipoprotein cholesterol" RELATED [ChEBI] synonym: "HDL cholesterol" RELATED [ChEBI] synonym: "HDL-C" RELATED [ChEBI] xref: MeSH:D008075 xref: MeSH:D008076 xref: SNOMEDCT:102737005 is_a: CHEBI:35341 ! steroid [Term] id: CHEBI:47780 name: clomipramine namespace: chebi_ontology alt_id: CHEBI:3754 alt_id: CHEBI:47359 def: "A dibenzoazepine that is 10,11-dihydro-5H-dibenzo[b,f]azepine which is substituted by chlorine at position 3 and in which the hydrogen attached to the nitrogen is replaced by a 3-(dimethylamino)propyl group. One of the more sedating tricyclic antidepressants, it is used as the hydrochloride salt for the treatment of depression as well as obsessive-compulsive disorder and phobias." [] subset: 3_STAR synonym: "3-(3-chloro-10,11-dihydro-5H-dibenzo[b,f]azepin-5-yl)-N,N-dimethyl-1-propanamine" RELATED [NIST_Chemistry_WebBook] synonym: "3-(3-chloro-10,11-dihydro-5H-dibenzo[b,f]azepin-5-yl)-N,N-dimethylpropan-1-amine" EXACT IUPAC_NAME [IUPAC] synonym: "3-(3-CHLORO-5H-DIBENZO[B,F]AZEPIN-5-YL)-N,N-DIMETHYLPROPAN-1-AMINE" RELATED [PDBeChem] synonym: "3-chloroimipramine" RELATED [ChemIDplus] synonym: "chlorimipramine" RELATED [NIST_Chemistry_WebBook] synonym: "Clomipramine" EXACT [KEGG_COMPOUND] synonym: "G 34586" RELATED [NIST_Chemistry_WebBook] synonym: "monochlorimipramine" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:1323477 {source="ChemIDplus"} xref: CAS:303-49-1 {source="ChemIDplus"} xref: CAS:303-49-1 {source="NIST Chemistry WebBook"} xref: CAS:303-49-1 {source="KEGG COMPOUND"} xref: ChEMBL:100996 xref: ChemIDplus:1323477 xref: ChemIDplus:303-49-1 xref: CiteXplore:12007764 xref: CiteXplore:12084414 xref: CiteXplore:16085036 xref: CiteXplore:17471183 xref: CiteXplore:19810911 xref: Drug_Central:701 {source="DrugCentral"} xref: DrugBank:DB01242 xref: KEGG COMPOUND:303-49-1 xref: KEGG COMPOUND:C06918 xref: KEGG:C06918 xref: KEGG:D07727 xref: LINCS:LSM-3171 xref: MeSH:D002997 xref: NCIt:C61608 xref: NIST Chemistry WebBook:303-49-1 xref: Patent:CH371799 xref: Patent:US3467650 xref: PDBeChem:CXX xref: PMID:12007764 {source="Europe PMC"} xref: PMID:12084414 {source="Europe PMC"} xref: PMID:16085036 {source="Europe PMC"} xref: PMID:17471183 {source="Europe PMC"} xref: PMID:19747949 {source="Europe PMC"} xref: PMID:19810911 {source="Europe PMC"} xref: Reaxys:1323477 {source="Reaxys"} xref: SNOMEDCT:372903001 xref: SNOMEDCT:96209002 xref: Wikipedia:Clomipramine is_a: CHEBI:47804 ! dibenzoazepine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H23ClN2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H23ClN2/c1-21(2)12-5-13-22-18-7-4-3-6-15(18)8-9-16-10-11-17(20)14-19(16)22/h3-4,6-7,10-11,14H,5,8-9,12-13H2,1-2H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GDLIGKIOYRNHDA-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "314.85210" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "314.15498" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN(C)CCCN1c2ccccc2CCc2ccc(Cl)cc12" xsd:string [Term] id: CHEBI:47804 name: dibenzoazepine namespace: chebi_ontology subset: 3_STAR synonym: "dibenzazepine" RELATED [ChEBI] synonym: "dibenzoazepine" EXACT [ChEBI] synonym: "dibenzoazepines" RELATED [ChEBI] xref: MeSH:D003984 is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:35476 ! antipsychotic agent [Term] id: CHEBI:47807 name: sulforaphane namespace: chebi_ontology def: "An isothiocyanate having a 4-(methylsulfinyl)butyl group attached to the nitrogen." [] subset: 3_STAR synonym: "1-isothiocyanato-4-(methylsulfinyl)butane" EXACT IUPAC_NAME [IUPAC] synonym: "4-isothiocyanatobutyl methyl sulfoxide" EXACT IUPAC_NAME [IUPAC] synonym: "Sulforafan" RELATED [ChemIDplus] synonym: "Sulforaphane" EXACT [ChemIDplus] synonym: "sulforaphane" EXACT [UniProt] xref: Beilstein:1723237 {source="Beilstein"} xref: CAS:4478-93-7 {source="ChemIDplus"} xref: HMDB:HMDB0005792 xref: LINCS:LSM-4919 xref: Patent:CA2839972 xref: Patent:CN103229711 xref: Patent:US2013323225 xref: Patent:WO2013179056 xref: Patent:WO2013179057 xref: PMID:16442570 {source="Europe PMC"} xref: PMID:17134937 {source="Europe PMC"} xref: PMID:18090122 {source="Europe PMC"} xref: Reaxys:1723237 {source="Reaxys"} xref: Wikipedia:Sulforaphane is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H11NOS2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H11NOS2/c1-10(8)5-3-2-4-7-6-9/h2-5H2,1H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SUVMJBTUFCVSAD-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "177.290" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "177.02821" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "N(=C=S)CCCCS(=O)C" xsd:string [Term] id: CHEBI:4784 name: enalapril namespace: chebi_ontology alt_id: CHEBI:116847 def: "A dicarboxylic acid monoester that is ethyl 4-phenylbutanoate in which a hydrogen alpha to the carboxy group is substituted by the amino group of L-alanyl-L-proline (S-configuration)." [] subset: 3_STAR synonym: "(S)-1-(N-(1-(ethoxycarbonyl)-3-phenylpropyl)-L-alanyl)-L-proline" RELATED [ChemIDplus] synonym: "(S)-1-{(S)-2-[1-((S)-Ethoxycarbonyl)-3-phenyl-propylamino]-propionyl}-pyrrolidine-2-carboxylic acid" RELATED [ChEMBL] synonym: "1-(N-((S)-1-carboxy-3-phenylpropyl)-L-alanyl)-L-proline 1'-ethyl ester" RELATED [ChemIDplus] synonym: "analapril" RELATED INN [WHO_MedNet] synonym: "ENALAPRIL" EXACT [ChEMBL] synonym: "Enalapril" EXACT [KEGG_COMPOUND] synonym: "enalapril" RELATED INN [ChemIDplus] synonym: "enalaprila" RELATED INN [ChemIDplus] synonym: "enalaprilum" RELATED INN [ChemIDplus] synonym: "N-[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]-L-alanyl-L-proline" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:3657467 {source="Beilstein"} xref: CAS:75847-73-3 {source="ChemIDplus"} xref: CAS:75847-73-3 {source="KEGG COMPOUND"} xref: Chemspider:4534998 xref: Drug_Central:1005 {source="DrugCentral"} xref: DrugBank:DB00584 xref: HMDB:HMDB0014722 xref: KEGG:C06977 xref: KEGG:D07892 xref: LINCS:LSM-3282 xref: MetaCyc:CPD0-2065 xref: Patent:EP12401 xref: Patent:US4374829 xref: PMID:10669559 {source="ChEMBL"} xref: PMID:11523315 {source="Europe PMC"} xref: PMID:12725609 {source="Europe PMC"} xref: PMID:19019755 {source="Europe PMC"} xref: PMID:19549507 {source="Europe PMC"} xref: PMID:23030053 {source="Europe PMC"} xref: PMID:23413003 {source="Europe PMC"} xref: PMID:32835726 {source="Europe PMC"} xref: PMID:33643971 {source="Europe PMC"} xref: PMID:33881639 {source="Europe PMC"} xref: PMID:33963573 {source="Europe PMC"} xref: PMID:34020248 {source="Europe PMC"} xref: PMID:34101308 {source="Europe PMC"} xref: PMID:34412508 {source="Europe PMC"} xref: PMID:34440064 {source="Europe PMC"} xref: PMID:34533783 {source="Europe PMC"} xref: Wikipedia:Enalapril is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H28N2O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H28N2O5/c1-3-27-20(26)16(12-11-15-8-5-4-6-9-15)21-14(2)18(23)22-13-7-10-17(22)19(24)25/h4-6,8-9,14,16-17,21H,3,7,10-13H2,1-2H3,(H,24,25)/t14-,16-,17-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GBXSMTUPTTWBMN-XIRDDKMYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "376.44670" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "376.19982" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCOC(=O)[C@H](CCc1ccccc1)N[C@@H](C)C(=O)N1CCC[C@H]1C(O)=O" xsd:string [Term] id: CHEBI:48028 name: HC toxin namespace: chebi_ontology def: "A homodetic cyclic tetrapeptide made up from L-alanyl, D-alanyl, L-prolyl and 2-amino-8-oxo-9,10-epoxydecanoyl residues." [] subset: 3_STAR synonym: "Cyclo(2-amino-8-oxo-9,10-epoxydecanoic acid-prolyl-alanyl-alanine)" RELATED [ChemIDplus] synonym: "Cyclo(aoe-pro-ala-ala)" RELATED [ChemIDplus] synonym: "HC-toxin" RELATED [ChemIDplus] xref: Beilstein:4729824 {source="Beilstein"} xref: CAS:83209-65-8 {source="KEGG COMPOUND"} xref: CAS:83209-65-8 {source="ChemIDplus"} xref: KEGG:C15676 xref: MeSH:C037654 xref: Patent:EP2194061 xref: PMID:10671527 {source="Europe PMC"} xref: PMID:12297630 {source="Europe PMC"} xref: PMID:15283467 {source="Europe PMC"} xref: PMID:16839576 {source="Europe PMC"} xref: PMID:18074352 {source="Europe PMC"} xref: PMID:18230731 {source="Europe PMC"} xref: PMID:18262346 {source="Europe PMC"} xref: PMID:19737099 {source="Europe PMC"} xref: PMID:3918884 {source="Europe PMC"} xref: PMID:9917303 {source="Europe PMC"} xref: Reaxys:4729824 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:27026 ! toxin property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C21H32N4O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C21H32N4O6/c1-12-18(27)22-13(2)19(28)24-14(7-4-3-5-9-16(26)17-11-31-17)21(30)25-10-6-8-15(25)20(29)23-12/h12-15,17H,3-11H2,1-2H3,(H,22,27)(H,23,29)(H,24,28)/t12-,13+,14-,15+,17?/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GNYCTMYOHGBSBI-KVUCBBCISA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "436.50214" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "436.23218" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]12CCCN1C(=O)[C@H](CCCCCC(=O)C1CO1)NC(=O)[C@@H](C)NC(=O)[C@H](C)NC2=O" xsd:string [Term] id: CHEBI:4806 name: (-)-epigallocatechin 3-gallate namespace: chebi_ontology def: "A gallate ester obtained by the formal condensation of gallic acid with the (3R)-hydroxy group of (-)-epigallocatechin." [] subset: 3_STAR synonym: "(-)-epigallocatechin 3-O-gallate" RELATED [ChEBI] synonym: "(-)-epigallocatechin gallate" RELATED [ChemIDplus] synonym: "(-)-epigallocatechin-3-O-gallate" RELATED [ChemIDplus] synonym: "(-)-epigallocatechol gallate" RELATED [ChemIDplus] synonym: "(2R,3R)-5,7-dihydroxy-2-(3,4,5-trihydroxyphenyl)-3,4-dihydro-2H-chromen-3-yl 3,4,5-trihydroxybenzoate" EXACT IUPAC_NAME [IUPAC] synonym: "3-O-galloyl-(-)-epigallocatechin" RELATED [ChEBI] synonym: "[(2R,3R)-5,7-dihydroxy-2-(3,4,5-trihydroxyphenyl)-3,4-dihydro-2H-chromen-3-yl] 3,4,5-trihydroxybenzoate" RELATED [ChEBI] synonym: "EGCG" RELATED [ChemIDplus] synonym: "epigallocatechin 3-gallate" RELATED [KEGG_COMPOUND] synonym: "epigallocatechin 3-O-gallate" RELATED [ChEBI] synonym: "epigallocatechin gallate" RELATED [ChemIDplus] synonym: "L-epigallocatechin gallate" RELATED [ChemIDplus] synonym: "NVP-XAA 723" RELATED [ChemIDplus] xref: Beilstein:3658838 {source="Beilstein"} xref: CAS:989-51-5 {source="KEGG COMPOUND"} xref: CAS:989-51-5 {source="ChemIDplus"} xref: Chemspider:58575 xref: HMDB:HMDB0003153 xref: KEGG:C09731 xref: KNApSAcK:C00000958 xref: LINCS:LSM-5661 xref: LIPID_MAPS_instance:LMPK12030005 {source="LIPID MAPS"} xref: MeSH:C045651 xref: NCIt:C1088 xref: Patent:CN102600212 xref: Patent:CN102763743 xref: Patent:US2012309821 xref: PDBeChem:KDH xref: PMID:12053219 {source="Europe PMC"} xref: PMID:12918062 {source="Europe PMC"} xref: PMID:14521154 {source="Europe PMC"} xref: PMID:14633667 {source="Europe PMC"} xref: PMID:15024383 {source="Europe PMC"} xref: PMID:15950188 {source="Europe PMC"} xref: PMID:17157668 {source="Europe PMC"} xref: PMID:18665171 {source="Europe PMC"} xref: PMID:18716169 {source="Europe PMC"} xref: PMID:19085685 {source="Europe PMC"} xref: PMID:19113837 {source="Europe PMC"} xref: PMID:19539611 {source="Europe PMC"} xref: PMID:19542563 {source="Europe PMC"} xref: PMID:19784588 {source="Europe PMC"} xref: PMID:19928918 {source="Europe PMC"} xref: PMID:20565072 {source="Europe PMC"} xref: PMID:21080642 {source="Europe PMC"} xref: PMID:21434603 {source="Europe PMC"} xref: PMID:21750208 {source="Europe PMC"} xref: PMID:22300765 {source="Europe PMC"} xref: PMID:22876177 {source="Europe PMC"} xref: PMID:23834676 {source="Europe PMC"} xref: PMID:31503486 {source="Europe PMC"} xref: PMID:31767902 {source="Europe PMC"} xref: PMID:32635637 {source="Europe PMC"} xref: PMID:33268646 {source="Europe PMC"} xref: PMID:33604623 {source="Europe PMC"} xref: PMID:34553787 {source="Europe PMC"} xref: Reaxys:67944 {source="Reaxys"} xref: Wikipedia:Epigallocatechin_gallate is_a: CHEBI:22707 ! benzenetriol is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:35610 ! antineoplastic agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H18O11" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C22H18O11/c23-10-5-12(24)11-7-18(33-22(31)9-3-15(27)20(30)16(28)4-9)21(32-17(11)6-10)8-1-13(25)19(29)14(26)2-8/h1-6,18,21,23-30H,7H2/t18-,21-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WMBWREPUVVBILR-WIYYLYMNSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "458.375" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "458.08491" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC1=CC(O)=C2C[C@@H](OC(=O)C3=CC(O)=C(O)C(O)=C3)[C@H](OC2=C1)C1=CC(O)=C(O)C(O)=C1" xsd:string [Term] id: CHEBI:48218 name: antiseptic drug namespace: chebi_ontology def: "A substance used locally on humans and other animals to destroy harmful microorganisms or to inhibit their activity (cf. disinfectants, which destroy microorganisms found on non-living objects, and antibiotics, which can be transported through the lymphatic system to destroy bacteria within the body)." [] subset: 3_STAR synonym: "antiseptic" RELATED [ChEBI] synonym: "antiseptic agent" RELATED [ChEBI] synonym: "antiseptic agents" RELATED [ChEBI] synonym: "antiseptics" RELATED [ChEBI] synonym: "local antiinfective agents" RELATED [ChEBI] synonym: "local microbicides" RELATED [ChEBI] synonym: "topical antiinfective agents" RELATED [ChEBI] synonym: "topical microbicides" RELATED [ChEBI] xref: Wikipedia:Antiseptic is_a: CHEBI:23888 ! drug is_a: EFO:0001899 ! drug role [Term] id: CHEBI:48236 name: trichlorofluoromethane namespace: chebi_ontology def: "A one-carbon compound that is methane in which the hydrogens have been replaced by three chlorine and one fluorine atom." [] subset: 3_STAR synonym: "CFC-11" RELATED [ChemIDplus] synonym: "Eskimon 11" RELATED [ChemIDplus] synonym: "fluorochloroform" RELATED [ChemIDplus] synonym: "fluorotrichloromethane" RELATED [NIST_Chemistry_WebBook] synonym: "Freon 11" RELATED [ChemIDplus] synonym: "monofluorotrichloromethane" RELATED [NIST_Chemistry_WebBook] synonym: "R-11" RELATED [ChemIDplus] synonym: "Refrigerant 11" RELATED [ChemIDplus] synonym: "trichloro(fluoro)methane" EXACT IUPAC_NAME [IUPAC] synonym: "trichlorofluorocarbon" RELATED [ChemIDplus] synonym: "trichlorofluoromethane" EXACT [ChemIDplus] synonym: "trichloromonofluoromethane" RELATED [ChemIDplus] xref: Beilstein:1732469 {source="ChemIDplus"} xref: CAS:75-69-4 {source="ChemIDplus"} xref: CAS:75-69-4 {source="NIST Chemistry WebBook"} xref: PMID:1114326 {source="Europe PMC"} xref: PMID:24189105 {source="Europe PMC"} xref: PMID:5727092 {source="Europe PMC"} xref: PMID:8006631 {source="Europe PMC"} xref: Reaxys:1732469 {source="Reaxys"} xref: Wikipedia:Trichlorofluoromethane is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "CCl3F" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/CCl3F/c2-1(3,4)5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CYRMSUTZVYGINF-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "137.36720" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "135.90496" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "FC(Cl)(Cl)Cl" xsd:string [Term] id: CHEBI:48278 name: serotonergic drug namespace: chebi_ontology subset: 3_STAR synonym: "serotonergic agents" RELATED [ChEBI] synonym: "serotonergic drugs" RELATED [ChEBI] synonym: "serotonin drugs" RELATED [ChEBI] is_a: CHEBI:23888 ! drug is_a: CHEBI:24432 ! biological role is_a: EFO:0001899 ! drug role [Term] id: CHEBI:48279 name: serotonergic antagonist namespace: chebi_ontology def: "Drugs that bind to but do not activate serotonin receptors, thereby blocking the actions of serotonin or serotonergic agonists." [] subset: 3_STAR synonym: "5-HT antagonists" RELATED [ChEBI] synonym: "5-hydroxytryptamine antagonists" RELATED [ChEBI] synonym: "antiserotonergic agents" RELATED [ChEBI] synonym: "serotonin antagonists" RELATED [ChEBI] synonym: "serotonin blockaders" RELATED [ChEBI] xref: MeSH:D012702 is_a: CHEBI:48278 ! serotonergic drug [Term] id: CHEBI:4828 name: ergothioneine namespace: chebi_ontology def: "A L-histidine derivative that is N(alpha),N(alpha),N(alpha)-trimethyl-L-histidine in which the hydrogen at position 2 on the imdazole ring is replaced by a mercapto group. A naturally occurring metabolite of histidine synthesized by bacteria and fungi with antioxidant properties. It is found ubiquitously in plants and animals and is present in many human foodstuffs." [] subset: 3_STAR synonym: "(2S)-3-(2-mercapto-1H-imidazol-5-yl)-2-(trimethylammonio)propanoate" RELATED [ChEBI] synonym: "(2S)-3-(2-mercapto-1H-imidazol-5-yl)-2-(trimethylazaniumyl)propanoate" EXACT IUPAC_NAME [IUPAC] synonym: "(alphaS)-alpha-carboxy-2,3-dihydro-N,N,N-trimethyl-2-thioxo-1H-imidazole-4-ethanaminium inner salt" RELATED [ChEBI] synonym: "(S)-(1-carboxy-2-(2-mercaptoimidazol-4-yl)ethyl)trimethylammonium hydroxide" RELATED [ChemIDplus] synonym: "2-mercaptohistidine trimethylbetaine" RELATED [ChEBI] synonym: "3-(2-sulfanylidene-1,3-dihydroimidazol-4-yl)-2-trimethylammonio-propanoate" RELATED [ChEBI] synonym: "ergothioneine thiol" RELATED [UniProt] synonym: "ergothionine" RELATED [ChemIDplus] synonym: "erythrothioneine" RELATED [ChEBI] synonym: "L-ergothioneine" RELATED [ChemIDplus] synonym: "L-thioneine" RELATED [ChemIDplus] synonym: "sympectothion" RELATED [ChemIDplus] synonym: "thiolhistidine-betaine" RELATED [ChemIDplus] synonym: "thiolhistidinebetaine" RELATED [ChEBI] xref: Beilstein:5755696 {source="Beilstein"} xref: CAS:497-30-3 {source="KEGG COMPOUND"} xref: CAS:497-30-3 {source="ChemIDplus"} xref: HMDB:HMDB0003045 xref: KEGG:C05570 xref: MetaCyc:CPD-15276 xref: PMID:15030958 {source="Europe PMC"} xref: PMID:15744438 {source="Europe PMC"} xref: PMID:17616140 {source="Europe PMC"} xref: PMID:18670092 {source="Europe PMC"} xref: PMID:18841979 {source="Europe PMC"} xref: PMID:19660151 {source="Europe PMC"} xref: PMID:19911007 {source="Europe PMC"} xref: PMID:20420449 {source="Europe PMC"} xref: PMID:23418129 {source="Europe PMC"} xref: PMID:23494799 {source="Europe PMC"} xref: PMID:23922985 {source="Europe PMC"} xref: PMID:24392160 {source="Europe PMC"} xref: PMID:25154712 {source="Europe PMC"} xref: PMID:25736892 {source="Europe PMC"} xref: PMID:26079795 {source="Europe PMC"} xref: PMID:26149121 {source="Europe PMC"} xref: PMID:26229105 {source="Europe PMC"} xref: PMID:26338495 {source="Europe PMC"} xref: PMID:26412552 {source="Europe PMC"} xref: PMID:26542137 {source="Europe PMC"} xref: PMID:26579093 {source="Europe PMC"} xref: PMID:26634964 {source="Europe PMC"} xref: PMID:26713511 {source="Europe PMC"} xref: PMID:26772879 {source="Europe PMC"} xref: PMID:26774486 {source="Europe PMC"} xref: PMID:26921894 {source="Europe PMC"} xref: PMID:26994919 {source="Europe PMC"} xref: PMID:27101740 {source="Europe PMC"} xref: PMID:27134772 {source="Europe PMC"} xref: PMID:27306320 {source="Europe PMC"} xref: PMID:27444382 {source="Europe PMC"} xref: PMID:7144630 {source="Europe PMC"} xref: Reaxys:5755696 {source="Reaxys"} xref: Reaxys:8411606 {source="Reaxys"} xref: Wikipedia:Ergothioneine is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H15N3O2S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H15N3O2S/c1-12(2,3)7(8(13)14)4-6-5-10-9(15)11-6/h5,7H,4H2,1-3H3,(H2-,10,11,13,14,15)/t7-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SSISHJJTAXXQAX-ZETCQYMHSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "229.29900" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "229.08850" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[N+](C)(C)[C@@H](Cc1c[nH]c(S)n1)C([O-])=O" xsd:string [Term] id: CHEBI:48354 name: polar solvent namespace: chebi_ontology def: "A solvent that is composed of polar molecules. Polar solvents can dissolve ionic compounds or ionisable covalent compounds." [] subset: 3_STAR synonym: "polar solvent" EXACT IUPAC_NAME [IUPAC] synonym: "polar solvents" RELATED [ChEBI] is_a: CHEBI:33232 ! application is_a: CHEBI:51086 ! chemical role relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:48358 name: polar aprotic solvent namespace: chebi_ontology def: "A solvent with a comparatively high relative permittivity (or dielectric constant), greater than ca. 15, and a sizable permanent dipole moment, that cannot donate suitably labile hydrogen atoms to form strong hydrogen bonds." [] subset: 3_STAR synonym: "dipolar aprotic solvent" EXACT IUPAC_NAME [IUPAC] is_a: CHEBI:48354 ! polar solvent relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:48362 name: but-1-ene namespace: chebi_ontology def: "A butene with unsaturation at position 1." [] subset: 3_STAR synonym: "1-butene" RELATED [ChemIDplus] synonym: "1-butylene" RELATED [ChemIDplus] synonym: "1-C4H8" RELATED [NIST_Chemistry_WebBook] synonym: "alpha-butene" RELATED [NIST_Chemistry_WebBook] synonym: "alpha-butylene" RELATED [NIST_Chemistry_WebBook] synonym: "but-1-ene" EXACT IUPAC_NAME [IUPAC] synonym: "butene-1" RELATED [NIST_Chemistry_WebBook] synonym: "ethylethylene" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:1098262 {source="Beilstein"} xref: CAS:106-98-9 {source="ChemIDplus"} xref: CAS:106-98-9 {source="NIST Chemistry WebBook"} xref: Gmelin:25205 {source="Gmelin"} xref: PMID:24819240 {source="Europe PMC"} xref: Reaxys:1098262 {source="Reaxys"} xref: Wikipedia:1-Butene is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H8" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H8/c1-3-4-2/h3H,1,4H2,2H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VXNZUUAINFGPBY-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "56.10632" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "56.06260" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCC=C" xsd:string [Term] id: CHEBI:48416 name: olmesartan namespace: chebi_ontology subset: 3_STAR synonym: "4-(1-hydroxy-1-methylethyl)-2-propyl-1-{[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl}-1H-imidazole-5-carboxylic acid" EXACT IUPAC_NAME [IUPAC] synonym: "4-(1-hydroxy-1-methylethyl)-2-propyl-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-imidazole-5-carboxylic acid" RELATED [IUPAC] synonym: "4-(hydroxy-1-methylethyl)-2-propyl-1-{[2'-(1H-tetrazol-5-yl)-1,1'-biphenyl-4-yl]methyl}-1H-imidazole-5-carboxylic acid" RELATED [IUPHAR] synonym: "olmesartan" EXACT [IUPHAR] xref: Beilstein:7502669 {source="Beilstein"} xref: CAS:144689-24-7 {source="ChemIDplus"} xref: DrugBank:DB00275 xref: LINCS:LSM-5893 xref: MeSH:C437965 xref: NCIt:C66253 xref: SNOMEDCT:385540001 xref: SNOMEDCT:412259001 xref: Wikipedia:Olmesartan is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C24H26N6O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C24H26N6O3/c1-4-7-19-25-21(24(2,3)33)20(23(31)32)30(19)14-15-10-12-16(13-11-15)17-8-5-6-9-18(17)22-26-28-29-27-22/h5-6,8-13,33H,4,7,14H2,1-3H3,(H,31,32)(H,26,27,28,29)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VTRAEEWXHOVJFV-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "446.50188" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "446.20664" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCc1nc(c(C(O)=O)n1Cc1ccc(cc1)-c1ccccc1-c1nnn[nH]1)C(C)(C)O" xsd:string [Term] id: CHEBI:48432 name: angiotensin II namespace: chebi_ontology subset: 3_STAR synonym: "1-8-angiotensin I" RELATED [ChemIDplus] synonym: "ang II" RELATED [IUPHAR] synonym: "angiotensina II" RELATED INN [ChemIDplus] synonym: "angiotensinum II" RELATED INN [ChemIDplus] xref: CAS:11128-99-7 {source="ChemIDplus"} xref: ChemIDplus:11128-99-7 xref: MeSH:D000804 xref: SNOMEDCT:85267009 is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:48558 name: roxindole namespace: chebi_ontology subset: 3_STAR synonym: "3-(4-(3,6-dihydro-4-phenyl-1(2H)-pyridinyl)butyl)-1H-indol-5-ol" RELATED [ChemIDplus] synonym: "3-[4-(4-phenyl-3,6-dihydro-2H-pyridin-1-yl)butyl]-1H-indol-5-ol" RELATED [IUPHAR] synonym: "3-[4-(4-phenyl-3,6-dihydropyridin-1(2H)-yl)butyl]-1H-indol-5-ol" EXACT IUPAC_NAME [IUPAC] synonym: "roxindol" RELATED INN [WHO_MedNet] synonym: "roxindole" RELATED INN [WHO_MedNet] synonym: "roxindolum" RELATED INN [WHO_MedNet] xref: Beilstein:5855538 "Beilstein Registry Number" xref: Beilstein:5855538 {source="Beilstein"} xref: CAS:112192-04-8 {source="ChemIDplus"} xref: ChemIDplus:112192-04-8 "CAS Registry Number" xref: MeSH:C059613 xref: NCIt:C90625 xref: Wikipedia:Roxindole is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:37890 ! alpha-adrenergic antagonist relationship: has_role CHEBI:48278 ! serotonergic drug property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C23H26N2O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C23H26N2O/c26-21-9-10-23-22(16-21)20(17-24-23)8-4-5-13-25-14-11-19(12-15-25)18-6-2-1-3-7-18/h1-3,6-7,9-11,16-17,24,26H,4-5,8,12-15H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HGEYJZMMUGWEOT-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "346.466" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "346.20451" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C1=C(C2=CC=CC=C2)CCN(CCCCC=3C=4C(=CC=C(C4)O)NC3)C1" xsd:string [Term] id: CHEBI:48561 name: dopaminergic antagonist namespace: chebi_ontology def: "A drug that binds to but does not activate dopamine receptors, thereby blocking the actions of dopamine or exogenous agonists." [] subset: 3_STAR synonym: "dopamine antagonist" RELATED [ChEBI] synonym: "dopamine blocker" RELATED [ChEBI] synonym: "dopamine receptor antagonist" RELATED [ChEBI] synonym: "dopaminergic antagonists" RELATED [ChEBI] xref: NCIt:C66883 is_a: CHEBI:23888 ! drug is_a: CHEBI:24432 ! biological role is_a: EFO:0001899 ! drug role [Term] id: CHEBI:48574 name: phenylbutazone namespace: chebi_ontology alt_id: CHEBI:44635 alt_id: CHEBI:8091 def: "A member of the class of pyrazolidines that is 1,2-diphenylpyrazolidine-3,5-dione carrying a butyl group at the 4-position." [] subset: 3_STAR synonym: "3,5-Dioxo-1,2-diphenyl-4-n-butylpyrazolidine" RELATED [ChemIDplus] synonym: "4-BUTYL-1,2-DIPHENYL-PYRAZOLIDINE-3,5-DIONE" RELATED [PDBeChem] synonym: "4-butyl-1,2-diphenylpyrazolidine-3,5-dione" EXACT IUPAC_NAME [IUPAC] synonym: "4-n-Butyl-1,2-diphenyl-3,5-pyrazolidinedione" RELATED [ChemIDplus] synonym: "fenilbutazona" RELATED INN [ChemIDplus] synonym: "Phenbutazone" RELATED [KEGG_COMPOUND] synonym: "Phenylbutazon" RELATED [ChemIDplus] synonym: "Phenylbutazone" EXACT [KEGG_COMPOUND] synonym: "phenylbutazone" RELATED INN [ChemIDplus] synonym: "phenylbutazone" RELATED INN [WHO_MedNet] synonym: "phenylbutazonum" RELATED INN [ChemIDplus] xref: Beilstein:290080 {source="Beilstein"} xref: CAS:50-33-9 {source="KEGG COMPOUND"} xref: Drug_Central:2145 {source="DrugCentral"} xref: DrugBank:DB00812 xref: HMDB:HMDB0014950 xref: KEGG:C07440 xref: KEGG:D00510 xref: LINCS:LSM-2219 xref: PDBeChem:P1Z xref: PMID:11264893 {source="Europe PMC"} xref: PMID:12692637 {source="Europe PMC"} xref: PMID:13010905 {source="Europe PMC"} xref: PMID:13048452 {source="Europe PMC"} xref: PMID:13747451 {source="Europe PMC"} xref: PMID:19614844 {source="Europe PMC"} xref: PMID:20176071 {source="Europe PMC"} xref: PMID:21668837 {source="Europe PMC"} xref: PMID:22082440 {source="Europe PMC"} xref: PMID:22180948 {source="Europe PMC"} xref: PMID:22245664 {source="Europe PMC"} xref: PMID:23369749 {source="Europe PMC"} xref: PMID:23525812 {source="Europe PMC"} xref: PMID:25287371 {source="Europe PMC"} xref: PMID:26090772 {source="Europe PMC"} xref: PMID:26808199 {source="Europe PMC"} xref: PMID:3425858 {source="Europe PMC"} xref: PMID:7655439 {source="Europe PMC"} xref: Reaxys:290080 {source="Reaxys"} xref: VSDB:1775 xref: Wikipedia:Phenylbutazone is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H20N2O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H20N2O2/c1-2-3-14-17-18(22)20(15-10-6-4-7-11-15)21(19(17)23)16-12-8-5-9-13-16/h4-13,17H,2-3,14H2,1H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VYMDGNCVAMGZFE-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "308.37430" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "308.15248" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCC1C(=O)N(N(C1=O)c1ccccc1)c1ccccc1" xsd:string [Term] id: CHEBI:48607 name: lithium chloride namespace: chebi_ontology def: "A metal chloride salt with a Li(+) counterion." [] subset: 3_STAR synonym: "chlorure de lithium" RELATED [NIST_Chemistry_WebBook] synonym: "cloruro de litio" RELATED [ChEBI] synonym: "LiCl" RELATED [IUPAC] synonym: "lithii chloridum" RELATED [ChEBI] synonym: "lithium chloride" EXACT IUPAC_NAME [IUPAC] synonym: "Lithiumchlorid" RELATED [ChEBI] xref: CAS:7447-41-8 {source="NIST Chemistry WebBook"} xref: CAS:7447-41-8 {source="ChemIDplus"} xref: MeSH:D018021 xref: PMID:21301855 {source="Europe PMC"} xref: PMID:24398558 {source="Europe PMC"} xref: SNOMEDCT:54835003 is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "ClLi" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/ClH.Li/h1H;/q;+1/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KWGKDLIKAYFUFQ-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "42.39370" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "41.98486" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Li+].[Cl-]" xsd:string [Term] id: CHEBI:4877 name: ethambutol namespace: chebi_ontology alt_id: CHEBI:133410 alt_id: CHEBI:659237 alt_id: CHEBI:678172 def: "An ethylenediamine derivative that is ethane-1,2-diamine in which one hydrogen attached to each of the nitrogens is sutstituted by a 1-hydroxybutan-2-yl group (S,S-configuration). It is a bacteriostatic antimycobacterial drug, effective against Mycobacterium tuberculosis and some other mycobacteria. It is used (as the dihydrochloride salt) in combination with other antituberculous drugs in the treatment of pulmonary and extrapulmonary tuberculosis; resistant strains of M. tuberculosis are readily produced if ethambutol is used alone." [] subset: 3_STAR synonym: "(+)-2,2'-(ethylenediimino)di-1-butanol" RELATED [ChemIDplus] synonym: "(+)-ethambutol" RELATED [ChEBI] synonym: "(+)-N,N'-bis(1-(hydroxymethyl)propyl)ethylenediamine" RELATED [ChemIDplus] synonym: "(+)-S,S-ethambutol" RELATED [ChemIDplus] synonym: "(2S,2'S)-2,2'-(ethane-1,2-diyldiimino)dibutan-1-ol" EXACT IUPAC_NAME [IUPAC] synonym: "(2S,7S)-2,7-diethyl-3,6-diazaoctane-1,8-diol" RELATED [ChEBI] synonym: "(S,S)-ethambutol" RELATED [ChEBI] synonym: "EMB" RELATED [ChEBI] synonym: "etambutol" RELATED INN [ChemIDplus] synonym: "Ethambutol" EXACT [KEGG_COMPOUND] synonym: "ethambutol" RELATED INN [ChemIDplus] synonym: "ethambutolum" RELATED INN [ChemIDplus] synonym: "S,S-Ethambutol" RELATED [ChEMBL] xref: Beilstein:6312870 {source="Beilstein"} xref: CAS:74-55-5 {source="ChemIDplus"} xref: CAS:74-55-5 {source="KEGG COMPOUND"} xref: Drug_Central:1073 {source="DrugCentral"} xref: DrugBank:DB00330 xref: KEGG:C06984 xref: KEGG:D07925 xref: PMID:10649975 {source="ChEMBL"} xref: PMID:10891117 {source="ChEMBL"} xref: PMID:10966749 {source="ChEMBL"} xref: PMID:12182855 {source="ChEMBL"} xref: PMID:14695841 {source="ChEMBL"} xref: PMID:14698152 {source="ChEMBL"} xref: PMID:15225698 {source="ChEMBL"} xref: PMID:16005211 {source="ChEMBL"} xref: PMID:16759086 {source="ChEMBL"} xref: PMID:16870429 {source="ChEMBL"} xref: PMID:17210775 {source="ChEMBL"} xref: PMID:17239593 {source="ChEMBL"} xref: PMID:17276683 {source="ChEMBL"} xref: PMID:17315960 {source="ChEMBL"} xref: PMID:17331717 {source="ChEMBL"} xref: PMID:17562368 {source="ChEMBL"} xref: PMID:17851083 {source="ChEMBL"} xref: PMID:17888665 {source="ChEMBL"} xref: PMID:19524332 {source="ChEMBL"} xref: PMID:19648006 {source="ChEMBL"} xref: PMID:3934384 {source="ChEMBL"} xref: Reaxys:6312870 {source="Reaxys"} xref: Wikipedia:Ethambutol is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H24N2O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H24N2O2/c1-3-9(7-13)11-5-6-12-10(4-2)8-14/h9-14H,3-8H2,1-2H3/t9-,10-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "AEUTYOVWOVBAKS-UWVGGRQHSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "204.30980" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "204.18378" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC[C@@H](CO)NCCN[C@@H](CC)CO" xsd:string [Term] id: CHEBI:48843 name: disodium selenite namespace: chebi_ontology def: "An inorganic sodium salt composed of sodium and selenite ions in a 2:1 ratio." [] subset: 3_STAR synonym: "disodium selenite" EXACT IUPAC_NAME [IUPAC] synonym: "Natriumselenit" RELATED [ChemIDplus] synonym: "sodium selenite" RELATED [ChemIDplus] xref: CAS:10102-18-8 {source="KEGG COMPOUND"} xref: CAS:10102-18-8 {source="ChemIDplus"} xref: Gmelin:30272 {source="Gmelin"} xref: KEGG:C18385 xref: Wikipedia:Sodium_selenite is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "Na2O3Se" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/2Na.H2O3Se/c;;1-4(2)3/h;;(H2,1,2,3)/q2*+1;/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BVTBRVFYZUCAKH-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "172.93774" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "173.88080" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Na+].[Na+].[O-][Se]([O-])=O" xsd:string [Term] id: CHEBI:4885 name: ethionamide namespace: chebi_ontology def: "A thiocarboxamide that is pyridine-4-carbothioamide substituted by an ethyl group at position 2. A prodrug that undergoes metabolic activation by conversion to the corresponding S-oxide." [] subset: 3_STAR synonym: "2-ethyl-4-thiopyridylamide" RELATED [ChEBI] synonym: "2-ethylpyridine-4-carbothioamide" EXACT IUPAC_NAME [IUPAC] synonym: "ETH" RELATED [DrugBank] synonym: "Ethinamide" RELATED [DrugBank] synonym: "Ethionamide" EXACT [KEGG_COMPOUND] synonym: "ethionamide" EXACT [UniProt] synonym: "ethionamidum" RELATED INN [ChemIDplus] synonym: "Ethioniamide" RELATED [DrugBank] synonym: "Ethylisothiamide" RELATED [DrugBank] synonym: "Ethyonomide" RELATED [DrugBank] synonym: "Etionamid" RELATED [DrugBank] synonym: "etionamida" RELATED INN [ChemIDplus] synonym: "Etionamide" RELATED [DrugBank] synonym: "Etioniamid" RELATED [DrugBank] synonym: "ETP" RELATED [DrugBank] synonym: "Trecator" RELATED BRAND_NAME [ChemIDplus] xref: Beilstein:116474 {source="Beilstein"} xref: CAS:536-33-4 {source="NIST Chemistry WebBook"} xref: CAS:536-33-4 {source="ChemIDplus"} xref: CAS:536-33-4 {source="KEGG COMPOUND"} xref: Drug_Central:1083 {source="DrugCentral"} xref: DrugBank:DB00609 xref: HMDB:HMDB0014747 xref: KEGG:C07665 xref: KEGG:D00591 xref: LINCS:LSM-5620 xref: Patent:GB800250 xref: PMID:14651620 {source="Europe PMC"} xref: PMID:15673755 {source="Europe PMC"} xref: PMID:15850780 {source="Europe PMC"} xref: Reaxys:116474 {source="Reaxys"} xref: Wikipedia:Ethionamide is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H10N2S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H10N2S/c1-2-7-5-6(8(9)11)3-4-10-7/h3-5H,2H2,1H3,(H2,9,11)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "AEOCXXJPGCBFJA-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "166.24448" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "166.05647" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCc1cc(ccn1)C(N)=S" xsd:string [Term] id: CHEBI:48864 name: benzothiadiazole namespace: chebi_ontology subset: 3_STAR synonym: "benzothiadiazoles" RELATED [ChEBI] is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role EFO:0001899 ! drug role [Term] id: CHEBI:48873 name: cholinergic antagonist namespace: chebi_ontology def: "Any drug that binds to but does not activate cholinergic receptors, thereby blocking the actions of acetylcholine or cholinergic agonists." [] subset: 3_STAR synonym: "acetylcholine antagonists" RELATED [ChEBI] synonym: "acetylcholine receptor antagonist" RELATED [IUPHAR] synonym: "agent anticholinergique" RELATED [ChEBI] synonym: "agente anticolinergico" RELATED [ChEBI] synonym: "agentes anticolinergicos" RELATED [ChEBI] synonym: "anticholinergic agents" RELATED [ChEBI] synonym: "anticholinergics" RELATED [ChEBI] synonym: "Anticholinergika" RELATED [ChEBI] synonym: "Anticholinergikum" RELATED [ChEBI] synonym: "anticholinergiques" RELATED [ChEBI] synonym: "anticolinergicos" RELATED [ChEBI] synonym: "cholinergic-blocking agents" RELATED [ChEBI] is_a: CHEBI:23888 ! drug is_a: CHEBI:24432 ! biological role is_a: EFO:0001899 ! drug role [Term] id: CHEBI:48876 name: muscarinic antagonist namespace: chebi_ontology def: "A drug that binds to but does not activate muscarinic cholinergic receptors, thereby blocking the actions of endogenous acetylcholine or exogenous agonists." [] subset: 3_STAR synonym: "agente antimuscarinico" RELATED [ChEBI] synonym: "agentes antimuscarinicos" RELATED [ChEBI] synonym: "agents antimuscariniques" RELATED [ChEBI] synonym: "antimuscarinic agents" RELATED [ChEBI] synonym: "antimuscarinicos" RELATED [ChEBI] synonym: "Antimuskarinika" RELATED [ChEBI] synonym: "Antimuskarinikum" RELATED [ChEBI] synonym: "muscarinic acetylcholine receptor antagonist" RELATED [ChEBI] synonym: "muscarinic antagonists" RELATED [ChEBI] xref: MeSH:D018727 is_a: CHEBI:48873 ! cholinergic antagonist relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:48942 name: isovalerate namespace: chebi_ontology def: "A branched-chain saturated fatty acid anion that is the conjugate base of isovaleric acid; reported to improve ruminal fermentation and feed digestion in cattle." [] subset: 3_STAR synonym: "3-methyl-n-butyrate" RELATED [ChEBI] synonym: "3-methylbutanoate" EXACT IUPAC_NAME [IUPAC] synonym: "3-methylbutanoate" RELATED [UniProt] synonym: "3-methylbutyrate" RELATED [ChEBI] synonym: "beta-methylbutyrate" RELATED [ChEBI] synonym: "delphinate" RELATED [ChEBI] synonym: "isopentanoate" RELATED [ChEBI] synonym: "isopropylacetate" RELATED [ChEBI] synonym: "isovalerianate" RELATED [ChEBI] xref: Beilstein:773692 {source="Beilstein"} xref: PMID:19138353 {source="Europe PMC"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H9O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H10O2/c1-4(2)3-5(6)7/h4H,3H2,1-2H3,(H,6,7)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GWYFCOCPABKNJV-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "101.12376" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "101.06080" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)CC([O-])=O" xsd:string [Term] id: CHEBI:48958 name: 1,1'-azobis(N,N-dimethylformamide) namespace: chebi_ontology subset: 3_STAR synonym: "1,1'-azobis(N,N-dimethylformamide)" EXACT [ChemIDplus] synonym: "3-(N,N-dimethylcarbamoylimido)-1,1-dimethylurea" RELATED [ChemIDplus] synonym: "azodicarboxylic acid bis-dimethylamide" RELATED [ChemIDplus] synonym: "Diamide" RELATED [ChemIDplus] synonym: "diazenedicarboxylic acid bis(N,N-dimethylamide)" RELATED [ChemIDplus] synonym: "N,N,N',N'-tetramethylazobisformamide" RELATED [ChemIDplus] synonym: "N,N,N',N'-tetramethylazodicarboxamide" RELATED [ChemIDplus] synonym: "N,N,N',N'-tetramethylazoformamide" RELATED [ChemIDplus] synonym: "N,N,N',N'-tetramethyldiazene-1,2-dicarboxamide" EXACT IUPAC_NAME [IUPAC] synonym: "tetramethyldiazenedicarboxamide" RELATED [ChemIDplus] synonym: "TMAD" RELATED [ChemIDplus] xref: Beilstein:1910409 {source="ChemIDplus"} xref: CAS:10465-78-8 {source="ChemIDplus"} xref: Gmelin:913769 {source="Gmelin"} xref: MeSH:D003958 is_a: EFO:0004417 ! amide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H12N4O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H12N4O2/c1-9(2)5(11)7-8-6(12)10(3)4/h1-4H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VLSDXINSOMDCBK-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "172.18524" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "172.09603" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN(C)C(=O)N=NC(=O)N(C)C" xsd:string [Term] id: CHEBI:48991 name: 7-methylxanthine namespace: chebi_ontology def: "An oxopurine that is xanthine in which the hydrogen attached to the nitrogen at position 7 is replaced by a methyl group. It is an intermediate metabolite in the synthesis of caffeine." [] subset: 3_STAR synonym: "3,7-dihydro-7-methyl-1H-purine-2,6-dione" RELATED [NIST_Chemistry_WebBook] synonym: "7-methyl-3,7-dihydro-1H-purine-2,6-dione" EXACT IUPAC_NAME [IUPAC] synonym: "7-Methylxanthin" RELATED [ChemIDplus] synonym: "7-methylxanthine" EXACT [UniProt] synonym: "Heteroxanthin" RELATED [ChemIDplus] synonym: "Heteroxanthine" RELATED [ChemIDplus] xref: Beilstein:171027 {source="Beilstein"} xref: CAS:552-62-5 {source="ChemIDplus"} xref: CAS:552-62-5 {source="NIST Chemistry WebBook"} xref: CAS:552-62-5 {source="KEGG COMPOUND"} xref: HMDB:HMDB0001991 xref: KEGG:C16353 xref: KNApSAcK:C00007326 xref: MetaCyc:7-METHYLXANTHINE xref: PMID:11712316 {source="Europe PMC"} xref: PMID:18068204 {source="Europe PMC"} xref: PMID:4196487 {source="Europe PMC"} xref: Reaxys:171027 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H6N4O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H6N4O2/c1-10-2-7-4-3(10)5(11)9-6(12)8-4/h2H,1H3,(H2,8,9,11,12)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PFWLFWPASULGAN-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "166.13760" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "166.04908" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cn1cnc2[nH]c(=O)[nH]c(=O)c12" xsd:string [Term] id: CHEBI:48999 name: 4-hydroxyphenylacetate namespace: chebi_ontology def: "A monocarboxylic acid anion that is obtained by removal of a proton from the carboxylic acid group of 4-hydroxyphenylacetic acid." [] subset: 3_STAR synonym: "(4-hydroxyphenyl)acetate" EXACT IUPAC_NAME [IUPAC] synonym: "(p-hydroxyphenyl)acetate" RELATED [ChEBI] synonym: "2-(4-hydroxyphenyl)ethanoate" RELATED [ChEBI] synonym: "4-hydroxybenzeneacetate" RELATED [ChEBI] synonym: "4-hydroxyphenylacetate" EXACT [UniProt] xref: MetaCyc:4-HYDROXYPHENYLACETATE xref: Reaxys:3905591 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H7O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H8O3/c9-7-3-1-6(2-4-7)5-8(10)11/h1-4,9H,5H2,(H,10,11)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XQXPVVBIMDBYFF-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "151.13938" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "151.04007" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Oc1ccc(CC([O-])=O)cc1" xsd:string [Term] id: CHEBI:49006 name: N-acetylcitrulline namespace: chebi_ontology def: "An N-acetyl-amino acid that is the N(alpha)-acetyl derivative of citrulline." [] subset: 3_STAR synonym: "2-(acetylamino)-5-[(aminocarbonyl)amino]pentanoic acid" RELATED [ChEBI] synonym: "2-acetamido-5-(carbamoylamino)pentanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "N(2)-acetyl-N(5)-carbamoylornithine" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:2215792 {source="Beilstein"} xref: PMID:4107635 {source="Europe PMC"} xref: Reaxys:2215792 {source="Reaxys"} is_a: EFO:0004416 ! acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H15N3O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H15N3O4/c1-5(12)11-6(7(13)14)3-2-4-10-8(9)15/h6H,2-4H2,1H3,(H,11,12)(H,13,14)(H3,9,10,15)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WMQMIOYQXNRROC-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "217.22252" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "217.10626" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(=O)NC(CCCNC(N)=O)C(O)=O" xsd:string [Term] id: CHEBI:4903 name: 17alpha-ethynylestradiol namespace: chebi_ontology def: "A 3-hydroxy steroid that is estradiol substituted by a ethynyl group at position 17. It is a xenoestrogen synthesized from estradiol and has been shown to exhibit high estrogenic potency on oral administration." [] subset: 3_STAR synonym: "17-ethinyl-3,17-estradiol" RELATED [ChemIDplus] synonym: "17-ethinyl-3,17-oestradiol" RELATED [ChemIDplus] synonym: "17-ethinylestradiol" RELATED [ChemIDplus] synonym: "17alpha-Ethinyl estradiol" RELATED [KEGG_COMPOUND] synonym: "17alpha-ethynylestra-1,3,5(10)-triene-3,17beta-diol" EXACT IUPAC_NAME [IUPAC] synonym: "17alpha-ethynylestradiol" EXACT [UniProt] synonym: "Ethinyl estradiol" RELATED [KEGG_COMPOUND] synonym: "Ethinylestradiol" RELATED [KEGG_COMPOUND] synonym: "ethinyloestradiol" RELATED [ChemIDplus] synonym: "Ethynyl estradiol" RELATED [KEGG_COMPOUND] xref: Beilstein:2419975 {source="ChemIDplus"} xref: CAS:57-63-6 {source="ChemIDplus"} xref: CAS:57-63-6 {source="KEGG COMPOUND"} xref: Drug_Central:1082 {source="DrugCentral"} xref: DrugBank:DB00977 xref: HMDB:HMDB0001926 xref: KEGG:C07534 xref: KEGG:D00554 xref: LINCS:LSM-5593 xref: LIPID_MAPS_instance:LMST02010036 {source="LIPID MAPS"} xref: PMID:20189629 {source="Europe PMC"} xref: Reaxys:2419975 {source="Reaxys"} xref: VSDB:1887 is_a: CHEBI:35341 ! steroid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H24O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H24O2/c1-3-20(22)11-9-18-17-6-4-13-12-14(21)5-7-15(13)16(17)8-10-19(18,20)2/h1,5,7,12,16-18,21-22H,4,6,8-11H2,2H3/t16-,17-,18+,19+,20+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BFPYWIDHMRZLRN-SLHNCBLASA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "296.40336" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "296.17763" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]12CC[C@@]3(C)[C@@]([H])(CC[C@@]3(O)C#C)[C@]1([H])CCc1cc(O)ccc21" xsd:string [Term] id: CHEBI:49033 name: methionine S-oxide namespace: chebi_ontology def: "The S-oxide derivative of methionine. It is a biomarker of oxidative stress." [] subset: 3_STAR synonym: "2-amino-4-(methylsulfinyl)butanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "methionine sulfoxide" RELATED [ChemIDplus] xref: Beilstein:2206690 {source="Beilstein"} xref: CAS:62697-73-8 {source="ChemIDplus"} xref: DrugBank:DB02235 xref: HMDB:HMDB0002005 xref: MetaCyc:CPD0-1959 xref: PMID:12576054 {source="Europe PMC"} xref: PMID:24776987 {source="Europe PMC"} xref: Reaxys:2206690 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H11NO3S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H11NO3S/c1-10(9)3-2-4(6)5(7)8/h4H,2-3,6H2,1H3,(H,7,8)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QEFRNWWLZKMPFJ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "165.21178" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "165.04596" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CS(=O)CCC(N)C(O)=O" xsd:string [Term] id: CHEBI:49096 name: 3-aminoisobutyrate namespace: chebi_ontology def: "A beta-amino acid anion that is the conjugate base of 3-aminoisobutyric acid, arising from deprotonation of the carboxy group." [] subset: 3_STAR synonym: "3-amino-2-methylpropanoate" EXACT IUPAC_NAME [IUPAC] synonym: "beta-aminoisobutyrate" RELATED [ChEBI] xref: PMID:17190852 {source="Europe PMC"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H8NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H9NO2/c1-3(2-5)4(6)7/h3H,2,5H2,1H3,(H,6,7)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QCHPKSFMDHPSNR-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "102.11186" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "102.05605" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(CN)C([O-])=O" xsd:string [Term] id: CHEBI:4911 name: etoposide namespace: chebi_ontology subset: 3_STAR synonym: "(-)-etoposide" RELATED [DrugBank] synonym: "(5S,5aR,8aR,9R)-9-(4-hydroxy-3,5-dimethoxyphenyl)-8-oxo-5,5a,6,8,8a,9-hexahydrofuro[3',4':6,7]naphtho[2,3-d][1,3]dioxol-5-yl 4,6-O-[(1R)-ethylidene]-beta-D-glucopyranoside" EXACT IUPAC_NAME [IUPAC] synonym: "4'-Demethylepipodophyllotoxin 9-(4,6-O-(R)-ethylidene-beta-D-glucopyranoside)" RELATED [ChemIDplus] synonym: "4-demethylepipodophyllotoxin beta-D-ethylideneglucoside" RELATED [ChemIDplus] synonym: "9-((4,6-O-Ethylidine-beta-D-glucopyranosyl)oxy)-5,8,8a,9-tetrahydro-5-(4-hydroxy-3,4-dimethyloxyphenyl)furo(3',4'':6,7)naptho-(2,3-d)-1,3-dioxol-6(5aH)-one" RELATED [ChemIDplus] synonym: "Eposin" RELATED BRAND_NAME [DrugBank] synonym: "Etopophos" RELATED BRAND_NAME [DrugBank] synonym: "Etoposide" EXACT [KEGG_COMPOUND] synonym: "etoposide" RELATED INN [ChemIDplus] synonym: "Etoposido" RELATED INN [ChemIDplus] synonym: "etoposidum" RELATED INN [ChemIDplus] synonym: "Lastet" RELATED BRAND_NAME [DrugBank] synonym: "Toposar" RELATED BRAND_NAME [DrugBank] synonym: "trans-Etoposide" RELATED [DrugBank] synonym: "Vepesid" RELATED BRAND_NAME [DrugBank] synonym: "VP-16" RELATED [KEGG_COMPOUND] xref: CAS:33419-42-0 {source="KEGG COMPOUND"} xref: CAS:33419-42-0 {source="ChemIDplus"} xref: Drug_Central:1112 {source="DrugCentral"} xref: DrugBank:DB00773 xref: KEGG:C01576 xref: KEGG:D00125 xref: LINCS:LSM-6348 xref: MeSH:D005047 xref: NCIt:C491 xref: Patent:US3524844 xref: SNOMEDCT:387316009 xref: SNOMEDCT:56928005 xref: Wikipedia:Etoposide is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:35610 ! antineoplastic agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C29H32O13" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C29H32O13/c1-11-36-9-20-27(40-11)24(31)25(32)29(41-20)42-26-14-7-17-16(38-10-39-17)6-13(14)21(22-15(26)8-37-28(22)33)12-4-18(34-2)23(30)19(5-12)35-3/h4-7,11,15,20-22,24-27,29-32H,8-10H2,1-3H3/t11-,15+,20-,21-,22+,24-,25-,26-,27-,29+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VJJPUSNTGOMMGY-MRVIYFEKSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "588.55660" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "588.18429" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]12COC(=O)[C@]1([H])[C@H](c1cc(OC)c(O)c(OC)c1)c1cc3OCOc3cc1[C@H]2O[C@@H]1O[C@@H]2CO[C@@H](C)O[C@H]2[C@H](O)[C@H]1O" xsd:string [Term] id: CHEBI:4917 name: eugenol namespace: chebi_ontology def: "A phenylpropanoid formally derived from guaiacol with an allyl chain substituted para to the hydroxy group. It is a major component of clove essential oil, and exhibits antibacterial, analgesic and antioxidant properties. It has been widely used in dentistry to treat toothache and pulpitis." [] subset: 3_STAR synonym: "1,3,4-Eugenol" RELATED [NIST_Chemistry_WebBook] synonym: "1-allyl-3-methoxy-4-hydroxybenzene" RELATED [ChEBI] synonym: "1-allyl-4-hydroxy-3-methoxybenzene" RELATED [ChEBI] synonym: "1-Hydroxy-2-methoxy-4-allylbenzene" RELATED [ChemIDplus] synonym: "1-Hydroxy-2-methoxy-4-prop-2-enylbenzene" RELATED [ChemIDplus] synonym: "1-Hydroxy-2-methoxy-4-propenylbenzene" RELATED [ChemIDplus] synonym: "2-Hydroxy-5-allylanisole" RELATED [NIST_Chemistry_WebBook] synonym: "2-Methoxy-1-hydroxy-4-allylbenzene" RELATED [ChemIDplus] synonym: "2-Methoxy-4-(2-propen-1-yl)phenol" RELATED [ChemIDplus] synonym: "2-methoxy-4-(2-propen-1-yl)phenol" RELATED [ChEBI] synonym: "2-Methoxy-4-(2-propenyl)phenol" RELATED [HMDB] synonym: "2-methoxy-4-(prop-2-en-1-yl)phenol" EXACT IUPAC_NAME [IUPAC] synonym: "2-Methoxy-4-allylphenol" RELATED [ChemIDplus] synonym: "2-methoxy-4-prop-2-enyl-phenol" RELATED [PDBeChem] synonym: "2-Methoxy-4-prop-2-enylphenol" RELATED [ChemIDplus] synonym: "4-Allyl-1-hydroxy-2-methoxybenzene" RELATED [ChemIDplus] synonym: "4-Allyl-2-methoxyphenol" RELATED [HMDB] synonym: "4-allyl-2-methoxyphenol" RELATED [IUPAC] synonym: "4-Allylcatechol-2-methyl ether" RELATED [NIST_Chemistry_WebBook] synonym: "4-Allylguaiacol" RELATED [ChemIDplus] synonym: "4-Hydroxy-3-methoxy-1-allylbenzene" RELATED [ChemIDplus] synonym: "Allylguaiacol" RELATED [ChemIDplus] synonym: "Caryophyllic acid" RELATED [ChemIDplus] synonym: "Eugenic acid" RELATED [ChemIDplus] synonym: "Eugenol" EXACT [KEGG_COMPOUND] synonym: "eugenol" EXACT [UniProt] synonym: "p-Allylguaiacol" RELATED [ChemIDplus] synonym: "p-Eugenol" RELATED [ChemIDplus] xref: Beilstein:1366759 {source="Beilstein"} xref: BPDB:2008 xref: CAS:97-53-0 {source="ChemIDplus"} xref: CAS:97-53-0 {source="NIST Chemistry WebBook"} xref: Chemspider:13876103 xref: Drug_Central:4648 {source="DrugCentral"} xref: FooDB:FDB012171 xref: HMDB:HMDB0005809 xref: KEGG:C10453 xref: KEGG:D04117 xref: KNApSAcK:C00000619 xref: LINCS:LSM-2720 xref: MetaCyc:CPD-6481 xref: PDBeChem:EOL xref: PMID:11033063 {source="Europe PMC"} xref: PMID:11806158 {source="Europe PMC"} xref: PMID:14745850 {source="Europe PMC"} xref: PMID:15574415 {source="Europe PMC"} xref: PMID:18218839 {source="Europe PMC"} xref: PMID:20809147 {source="Europe PMC"} xref: PMID:22075131 {source="Europe PMC"} xref: PMID:22923067 {source="Europe PMC"} xref: PMID:23181601 {source="Europe PMC"} xref: PMID:23261812 {source="Europe PMC"} xref: PMID:23264268 {source="Europe PMC"} xref: PMID:2329164 {source="Europe PMC"} xref: PMID:23313798 {source="Europe PMC"} xref: PMID:23325490 {source="Europe PMC"} xref: PMID:23422484 {source="Europe PMC"} xref: PMID:23422489 {source="Europe PMC"} xref: PMID:23444040 {source="Europe PMC"} xref: PMID:23594212 {source="Europe PMC"} xref: PMID:23666640 {source="Europe PMC"} xref: PMID:23677922 {source="Europe PMC"} xref: PMID:23707945 {source="Europe PMC"} xref: PMID:23768603 {source="Europe PMC"} xref: PMID:23768604 {source="Europe PMC"} xref: PMID:23791894 {source="Europe PMC"} xref: PMID:23837051 {source="Europe PMC"} xref: PMID:23841789 {source="Europe PMC"} xref: PMID:23852671 {source="Europe PMC"} xref: PMID:28044068 {source="Europe PMC"} xref: PMID:29079364 {source="Europe PMC"} xref: PMID:32737935 {source="Europe PMC"} xref: PMID:33291666 {source="Europe PMC"} xref: PMID:33916044 {source="Europe PMC"} xref: PMID:8596779 {source="Europe PMC"} xref: PMID:9084914 {source="Europe PMC"} xref: Reaxys:1366759 {source="Reaxys"} xref: Wikipedia:Eugenol is_a: CHEBI:33853 ! phenols property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H12O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H12O2/c1-3-4-8-5-6-9(11)10(7-8)12-2/h3,5-7,11H,1,4H2,2H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RRAFCDWBNXTKKO-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "164.204" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "164.08373" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "COC1=CC(CC=C)=CC=C1O" xsd:string [Term] id: CHEBI:4918 name: O-methyleugenol namespace: chebi_ontology subset: 3_STAR synonym: "1,2-Dimethoxy-4-(2-propenyl)benzene" RELATED [ChemIDplus] synonym: "1,2-dimethoxy-4-(prop-2-en-1-yl)benzene" EXACT IUPAC_NAME [IUPAC] synonym: "Eugenol methyl ether" RELATED [KEGG_COMPOUND] synonym: "Methyl eugenol" RELATED [ChemIDplus] synonym: "Methyleugenol" RELATED [ChemIDplus] synonym: "O-Methyleugenol" EXACT [KEGG_COMPOUND] xref: BPDB:2504 xref: CAS:93-15-2 {source="KEGG COMPOUND"} xref: CAS:93-15-2 {source="ChemIDplus"} xref: KEGG:C10454 xref: KNApSAcK:C00002741 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C11H14O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C11H14O2/c1-4-5-9-6-7-10(12-2)11(8-9)13-3/h4,6-8H,1,5H2,2-3H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ZYEMGPIYFIJGTP-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "178.22766" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "178.09938" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "COc1ccc(CC=C)cc1OC" xsd:string [Term] id: CHEBI:49183 name: phosphatidylcholine(1+) namespace: chebi_ontology alt_id: CHEBI:14802 alt_id: CHEBI:36705 def: "A glycerophosphocholine compound having O-acyl substituents at both the 1- and 2-positions of the glycerol. It is a major constituent of cell membranes." [] subset: 3_STAR synonym: "1,2-Diacyl-sn-glycero-3-phosphocholine" RELATED [KEGG_COMPOUND] synonym: "3-sn-Phosphatidylcholine" RELATED [KEGG_COMPOUND] synonym: "Choline phosphatide" RELATED [KEGG_COMPOUND] synonym: "Lecithin" RELATED [KEGG_COMPOUND] synonym: "Lecithol" RELATED [ChemIDplus] synonym: "PC" RELATED [ChEBI] synonym: "Phosphatidyl-N-trimethylethanolamine" RELATED [KEGG_COMPOUND] synonym: "phosphatidylcholines" RELATED [ChEBI] synonym: "Phospholutein" RELATED [ChemIDplus] xref: CAS:8002-43-5 {source="KEGG COMPOUND"} xref: CAS:8002-43-5 {source="ChemIDplus"} xref: ChemIDplus:8002-43-5 xref: CiteXplore:11306571 xref: CiteXplore:14761824 xref: CiteXplore:16882035 xref: CiteXplore:19843309 xref: CiteXplore:3196084 xref: KEGG COMPOUND:C00157 xref: KEGG:C00157 xref: MeSH:D010713 xref: PMID:11306571 {source="Europe PMC"} xref: PMID:11394647 {source="Europe PMC"} xref: PMID:11829744 {source="Europe PMC"} xref: PMID:14756787 {source="Europe PMC"} xref: PMID:14761824 {source="Europe PMC"} xref: PMID:15008874 {source="Europe PMC"} xref: PMID:15223015 {source="Europe PMC"} xref: PMID:16484204 {source="Europe PMC"} xref: PMID:16829536 {source="Europe PMC"} xref: PMID:16882035 {source="Europe PMC"} xref: PMID:18614529 {source="Europe PMC"} xref: PMID:19843309 {source="Europe PMC"} xref: PMID:22809594 {source="Europe PMC"} xref: PMID:22922101 {source="Europe PMC"} xref: PMID:23207112 {source="Europe PMC"} xref: PMID:23452035 {source="Europe PMC"} xref: PMID:23519169 {source="Europe PMC"} xref: PMID:23543734 {source="Europe PMC"} xref: PMID:3196084 {source="Europe PMC"} xref: SNOMEDCT:26312007 xref: Wikipedia:Phosphatidylcholine is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "+1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H19NO8PR2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "312.234" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "312.08483" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[N+](C)(C)CCOP(O)(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:49200 name: EC 3.6.3.10 (H(+)/K(+)-exchanging ATPase) inhibitor namespace: chebi_ontology def: "An EC 3.6.3.* (acid anhydride hydrolase catalysing transmembrane movement of substances) inhibitor that inhibits H(+)/K(+)-exchanging ATPase, EC 3.6.3.10. Such compounds are also known as proton pump inhibitors." [] subset: 3_STAR synonym: "(K(+) + H(+))-ATPase inhibitor" RELATED [ChEBI] synonym: "(K(+) + H(+))-ATPase inhibitors" RELATED [ChEBI] synonym: "ATP phosphohydrolase (H(+)/K(+)-exchanging) inhibitor" RELATED [ChEBI] synonym: "ATP phosphohydrolase (H(+)/K(+)-exchanging) inhibitors" RELATED [ChEBI] synonym: "EC 3.6.3.10 (H(+)/K(+)-exchanging ATPase) inhibitors" RELATED [ChEBI] synonym: "EC 3.6.3.10 inhibitor" RELATED [ChEBI] synonym: "EC 3.6.3.10 inhibitors" RELATED [ChEBI] synonym: "H(+)-K(+)-ATPase inhibitor" RELATED [ChEBI] synonym: "H(+)-K(+)-ATPase inhibitors" RELATED [ChEBI] synonym: "H(+)/K(+)-ATPase inhibitor" RELATED [ChEBI] synonym: "H(+)/K(+)-ATPase inhibitors" RELATED [ChEBI] synonym: "H(+)/K(+)-exchanging ATPase inhibitor" RELATED [ChEBI] synonym: "H(+)/K(+)-exchanging ATPase inhibitors" RELATED [ChEBI] synonym: "H,K-ATPase inhibitor" RELATED [ChEBI] synonym: "H,K-ATPase inhibitors" RELATED [ChEBI] synonym: "proton pump inhibitor" RELATED [ChEBI] synonym: "proton pump inhibitors" RELATED [ChEBI] xref: Wikipedia:Proton_pump_inhibitor is_a: CHEBI:23924 ! enzyme inhibitor [Term] id: CHEBI:49375 name: dasatinib (anhydrous) namespace: chebi_ontology alt_id: CHEBI:38943 alt_id: CHEBI:49372 def: "An aminopyrimidine that is 2-methylpyrimidine which is substituted at position 4 by the primary amino group of 2-amino-1,3-thiazole-5-carboxylic acid and at position 6 by a 4-(2-hydroxyethyl)piperazin-1-yl group, and in which the carboxylic acid group has been formally condensed with 2-chloro-6-methylaniline to afford the corresponding amide. A multi-targeted kinase inhibitor, it is used, particularly as the monohydrate, for the treatment of chronic, accelerated, or myeloid or lymphoid blast phase chronic myeloid leukemia. Note that the name 'dasatinib' is used to refer to the monohydrate (USAN) as well as to anhydrous dasatinib (INN)." [] subset: 3_STAR synonym: "anh. dasatinib" RELATED [ChEBI] synonym: "anhydrous dasatinib" RELATED [ChEBI] synonym: "BMS Dasatinib" RELATED [ChEBI] synonym: "BMS-354825" RELATED [ChEBI] synonym: "dasatinib" RELATED INN [WHO_MedNet] synonym: "dasatinib (anh.)" RELATED [ChEBI] synonym: "dasatinibum" RELATED INN [WHO_MedNet] synonym: "N-(2-CHLORO-6-METHYLPHENYL)-2-({6-[4-(2-HYDROXYETHYL)PIPERAZIN-1-YL]-2-METHYLPYRIMIDIN-4-YL}AMINO)-1,3-THIAZOLE-5-CARBOXAMIDE" RELATED [PDBeChem] synonym: "N-(2-chloro-6-methylphenyl)-2-({6-[4-(2-hydroxyethyl)piperazin-1-yl]-2-methylpyrimidin-4-yl}amino)-1,3-thiazole-5-carboxamide" EXACT IUPAC_NAME [IUPAC] xref: CAS:302962-49-8 {source="ChemIDplus"} xref: Drug_Central:785 {source="DrugCentral"} xref: DrugBank:DB01254 xref: HMDB:HMDB0015384 xref: KEGG:D03658 xref: LINCS:LSM-1020 xref: MeSH:C488369 xref: NCIt:C38713 xref: Patent:US7125875 xref: Patent:US7941725 xref: Patent:WO2010067374 xref: Patent:WO2010139979 xref: PDBeChem:1N1 xref: PMID:16775234 {source="Europe PMC"} xref: PMID:17154512 {source="Europe PMC"} xref: PMID:18020922 {source="Europe PMC"} xref: PMID:18784745 {source="Europe PMC"} xref: PMID:18797457 {source="Europe PMC"} xref: PMID:18823558 {source="Europe PMC"} xref: PMID:19494352 {source="Europe PMC"} xref: PMID:19502192 {source="Europe PMC"} xref: PMID:19640584 {source="Europe PMC"} xref: PMID:21226671 {source="Europe PMC"} xref: PMID:22411867 {source="Europe PMC"} xref: PMID:22740998 {source="Europe PMC"} xref: PMID:22992064 {source="Europe PMC"} xref: PMID:23065516 {source="Europe PMC"} xref: Reaxys:9966762 {source="Reaxys"} xref: SNOMEDCT:422756008 xref: SNOMEDCT:423658008 xref: Wikipedia:Dasatinib is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:35610 ! antineoplastic agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H26ClN7O2S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C22H26ClN7O2S/c1-14-4-3-5-16(23)20(14)28-21(32)17-13-24-22(33-17)27-18-12-19(26-15(2)25-18)30-8-6-29(7-9-30)10-11-31/h3-5,12-13,31H,6-11H2,1-2H3,(H,28,32)(H,24,25,26,27)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ZBNZXTGUTAYRHI-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "488.00652" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "487.15572" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cc1nc(Nc2ncc(s2)C(=O)Nc2c(C)cccc2Cl)cc(n1)N1CCN(CCO)CC1" xsd:string [Term] id: CHEBI:4953 name: exemestane namespace: chebi_ontology def: "A 17-oxo steroid that is androsta-1,4-diene-3,17-dione in which the hydrogens at position 6 are replaced by a double bond to a methylene group. A selective inhibitor of the aromatase (oestrogen synthase) system, it is used in the treatment of advanced breast cancer." [] subset: 3_STAR synonym: "6-methyleneandrosta-1,4-diene-3,17-dione" RELATED [ChemIDplus] synonym: "6-methylideneandrosta-1,4-diene-3,17-dione" EXACT IUPAC_NAME [IUPAC] synonym: "Exemestane" EXACT [KEGG_COMPOUND] synonym: "exemestane" RELATED INN [ChemIDplus] synonym: "exemestano" RELATED INN [ChemIDplus] synonym: "exemestanum" RELATED INN [ChemIDplus] xref: CAS:107868-30-4 {source="ChemIDplus"} xref: CAS:107868-30-4 {source="KEGG COMPOUND"} xref: Drug_Central:1122 {source="DrugCentral"} xref: DrugBank:DB00990 xref: KEGG:C08162 xref: KEGG:D00963 xref: MeSH:C056516 xref: NCIt:C1097 xref: PMID:10882163 {source="Europe PMC"} xref: Reaxys:6609645 {source="Reaxys"} xref: SNOMEDCT:116115004 xref: SNOMEDCT:387017005 xref: Wikipedia:Exemestane is_a: CHEBI:35341 ! steroid relationship: has_role CHEBI:35610 ! antineoplastic agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H24O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H24O2/c1-12-10-14-15-4-5-18(22)20(15,3)9-7-16(14)19(2)8-6-13(21)11-17(12)19/h6,8,11,14-16H,1,4-5,7,9-10H2,2-3H3/t14-,15-,16-,19+,20-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BFYIZQONLCFLEV-DAELLWKTSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "296.40340" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "296.17763" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12CC(=C)C3=CC(=O)C=C[C@]3(C)[C@@]1([H])CC[C@]1(C)C(=O)CC[C@@]21[H]" xsd:string [Term] id: CHEBI:49553 name: copper(II) chloride namespace: chebi_ontology def: "An inorganic chloride of copper in which the metal is in the +2 oxidation state." [] subset: 3_STAR synonym: "Coclor" RELATED [NIST_Chemistry_WebBook] synonym: "Copper bichloride" RELATED [ChemIDplus] synonym: "Copper chloride" RELATED [ChemIDplus] synonym: "Copper chloride (CuCl2)" RELATED [ChemIDplus] synonym: "Copper dichloride" RELATED [ChemIDplus] synonym: "copper dichloride" EXACT IUPAC_NAME [IUPAC] synonym: "Copper(2+) chloride" RELATED [ChEBI] synonym: "copper(2+) dichloride" EXACT IUPAC_NAME [IUPAC] synonym: "Copper(2+)chloride" RELATED [ChemIDplus] synonym: "Copper(II) chloride" EXACT [ChemIDplus] synonym: "copper(II) chloride" EXACT IUPAC_NAME [IUPAC] synonym: "Copper(II) chloride (1:2)" RELATED [ChemIDplus] synonym: "CuCl2" RELATED [ChEBI] synonym: "Cupric chloride" RELATED [ChemIDplus] synonym: "Cupric chloride anhydrous" RELATED [ChemIDplus] synonym: "Cupric dichloride" RELATED [ChemIDplus] xref: Beilstein:8128168 {source="Beilstein"} xref: CAS:7447-39-4 {source="NIST Chemistry WebBook"} xref: CAS:7447-39-4 {source="ChemIDplus"} xref: Drug_Central:4530 {source="DrugCentral"} xref: DrugBank:DB09131 xref: Gmelin:9300 {source="Gmelin"} xref: MeSH:C029892 xref: NCIt:C61692 xref: PDBeChem:CUL xref: PMID:10444249 {source="Europe PMC"} xref: PMID:9730919 {source="Europe PMC"} xref: PPDB:174 xref: Reaxys:8128168 {source="Reaxys"} xref: SNOMEDCT:311741002 xref: Wikipedia:Copper(II)_chloride is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "Cl2Cu" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/2ClH.Cu/h2*1H;/q;;+2/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ORTQZVOHEJQUHG-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "134.45200" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "132.86730" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cl[Cu]Cl" xsd:string [Term] id: CHEBI:49575 name: diazepam namespace: chebi_ontology alt_id: CHEBI:4494 alt_id: CHEBI:49574 def: "A 1,4-benzodiazepinone that is 1,3-dihydro-2H-1,4-benzodiazepin-2-one substituted by a chloro group at position 7, a methyl group at position 1 and a phenyl group at position 5." [] subset: 3_STAR synonym: "7-chloro-1,3-dihydro-1-methyl-5-phenyl-2H-1,4-benzodiazepin-2-one" RELATED [NIST_Chemistry_WebBook] synonym: "7-chloro-1-methyl-5-phenyl-1,3-dihydro-2H-1,4-benzodiazepin-2-one" EXACT IUPAC_NAME [IUPAC] synonym: "Diazepam" EXACT [KEGG_COMPOUND] synonym: "methyl diazepinone" RELATED [ChemIDplus] synonym: "Valium" RELATED [ChemIDplus] xref: Beilstein:754371 {source="Beilstein"} xref: CAS:439-14-5 {source="NIST Chemistry WebBook"} xref: CAS:439-14-5 {source="ChemIDplus"} xref: CAS:439-14-5 {source="KEGG COMPOUND"} xref: Drug_Central:852 {source="DrugCentral"} xref: DrugBank:DB00829 xref: Gmelin:124061 {source="Gmelin"} xref: HMDB:HMDB0014967 xref: KEGG:C06948 xref: KEGG:D00293 xref: LINCS:LSM-2359 xref: MeSH:D003975 xref: NCIt:C28982 xref: PDBeChem:DZP xref: PMID:11925051 {source="Europe PMC"} xref: PMID:16365514 {source="Europe PMC"} xref: PMID:16780966 {source="Europe PMC"} xref: Reaxys:754371 {source="Reaxys"} xref: SNOMEDCT:387264003 xref: SNOMEDCT:48546005 xref: VSDB:2972 xref: Wikipedia:Diazepam is_a: CHEBI:22720 ! benzodiazepine relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C16H13ClN2O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C16H13ClN2O/c1-19-14-8-7-12(17)9-13(14)16(18-10-15(19)20)11-5-3-2-4-6-11/h2-9H,10H2,1H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "AAOVKJBEBIDNHE-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "284.74000" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "284.07164" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN1C(=O)CN=C(c2ccccc2)c2cc(Cl)ccc12" xsd:string [Term] id: CHEBI:49603 name: lapatinib namespace: chebi_ontology alt_id: CHEBI:38636 alt_id: CHEBI:49602 subset: 3_STAR synonym: "GW 572016" RELATED [ChemIDplus] synonym: "N-(3-chloro-4-((3-fluorophenyl)methoxy)phenyl)-6-(5-(((2-(methylsulfonyl)ethyl)amino)methyl)-2-furanyl)-4-quinazolinamine" RELATED [ChemIDplus] synonym: "N-[3-chloro-4-(3-fluorobenzyloxy)phenyl]-6-[5-({[2-(methanesulfonyl)ethyl]amino}methyl)furan-2-yl]quinazolin-4-amine" EXACT IUPAC_NAME [IUPAC] synonym: "N-{3-CHLORO-4-[(3-FLUOROBENZYL)OXY]PHENYL}-6-[5-({[2-(METHYLSULFONYL)ETHYL]AMINO}METHYL)-2-FURYL]-4-QUINAZOLINAMINE" RELATED [PDBeChem] synonym: "Tykerb" RELATED [ChemIDplus] xref: Beilstein:10502247 {source="Beilstein"} xref: CAS:231277-92-2 {source="ChemIDplus"} xref: Drug_Central:1548 {source="DrugCentral"} xref: DrugBank:DB01259 xref: LINCS:LSM-1051 xref: MeSH:C490728 xref: NCIt:C26653 xref: PDBeChem:FMM xref: SNOMEDCT:425466009 xref: SNOMEDCT:425820005 xref: Wikipedia:Lapatinib is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:35610 ! antineoplastic agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C29H26ClFN4O4S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C29H26ClFN4O4S/c1-40(36,37)12-11-32-16-23-7-10-27(39-23)20-5-8-26-24(14-20)29(34-18-33-26)35-22-6-9-28(25(30)15-22)38-17-19-3-2-4-21(31)13-19/h2-10,13-15,18,32H,11-12,16-17H2,1H3,(H,33,34,35)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BCFGMOOMADDAQU-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "581.05840" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "580.13473" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CS(=O)(=O)CCNCc1ccc(o1)-c1ccc2ncnc(Nc3ccc(OCc4cccc(F)c4)c(Cl)c3)c2c1" xsd:string [Term] id: CHEBI:49662 name: indometacin namespace: chebi_ontology alt_id: CHEBI:49660 alt_id: CHEBI:5918 def: "A member of the class of indole-3-acetic acids that is indole-3-acetic acid in which the indole ring is substituted at positions 1, 2 and 5 by p-chlorobenzoyl, methyl, and methoxy groups, respectively. A non-steroidal anti-inflammatory drug, it is used in the treatment of musculoskeletal and joint disorders including osteoarthritis, rheumatoid arthritis, gout, bursitis and tendinitis." [] subset: 3_STAR synonym: "1-(p-chlorobenzoyl)-5-methoxy-2-methylindole-3-acetic acid" RELATED [ChemIDplus] synonym: "[1-(4-chlorobenzoyl)-5-methoxy-2-methyl-1H-indol-3-yl]acetic acid" EXACT IUPAC_NAME [IUPAC] synonym: "Aconip" RELATED BRAND_NAME [KEGG_DRUG] synonym: "Indocin" RELATED BRAND_NAME [KEGG_DRUG] synonym: "Indocin" RELATED [ChemIDplus] synonym: "indometacin" RELATED INN [ChemIDplus] synonym: "indometacina" RELATED INN [ChemIDplus] synonym: "indometacine" RELATED INN [ChemIDplus] synonym: "indometacinum" RELATED INN [ChemIDplus] synonym: "Indomethacin" RELATED [KEGG_COMPOUND] synonym: "{1-[(4-chlorophenyl)carbonyl]-5-methoxy-2-methyl-1H-indol-3-yl}acetic acid" RELATED [PDBeChem] xref: Beilstein:497341 {source="Beilstein"} xref: CAS:53-86-1 {source="KEGG COMPOUND"} xref: CAS:53-86-1 {source="ChemIDplus"} xref: CAS:53-86-1 {source="NIST Chemistry WebBook"} xref: ChEMBL:100173 xref: ChemIDplus:53-86-1 xref: Drug_Central:1440 {source="DrugCentral"} xref: DrugBank:DB00328 xref: Gmelin:1446006 {source="Gmelin"} xref: HMDB:HMDB0014473 xref: KEGG COMPOUND:53-86-1 xref: KEGG COMPOUND:C01926 xref: KEGG DRUG:D00141 xref: KEGG:C01926 xref: KEGG:D00141 xref: KNApSAcK:C00030512 xref: LINCS:LSM-3275 xref: MeSH:D007213 xref: MetaCyc:CPD-10545 xref: NCIt:C576 xref: NIST Chemistry WebBook:53-86-1 xref: Patent:BE379378 xref: Patent:US3161654 xref: PDBeChem:IMN xref: PMID:22931205 {source="Europe PMC"} xref: PMID:23992308 {source="Europe PMC"} xref: PMID:28166217 {source="Europe PMC"} xref: PMID:5952296 {source="Europe PMC"} xref: PMID:6039425 {source="Europe PMC"} xref: Reaxys:497341 {source="Reaxys"} xref: SNOMEDCT:60149003 xref: Wikipedia:Indometacin xref: Wikipedia:Indomethacin is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:35475 ! non-steroidal anti-inflammatory drug property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H16ClNO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H16ClNO4/c1-11-15(10-18(22)23)16-9-14(25-2)7-8-17(16)21(11)19(24)12-3-5-13(20)6-4-12/h3-9H,10H2,1-2H3,(H,22,23)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CGIGDMFJXJATDK-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "357.78800" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "357.07679" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "COc1ccc2n(C(=O)c3ccc(Cl)cc3)c(C)c(CC(O)=O)c2c1" xsd:string [Term] id: CHEBI:49668 name: gefitinib namespace: chebi_ontology alt_id: CHEBI:38917 alt_id: CHEBI:49667 def: "A member of the class of quinazolines that is quinazoline which is substituted by a (3-chloro-4-fluorophenyl)nitrilo group, 3-(morpholin-4-yl)propoxy group and a methoxy group at positions 4,6 and 7, respectively. An EGFR kinase inhibitor used for the treatment of non-small cell lung cancer." [] subset: 3_STAR synonym: "4-(3'-chloro-4'-fluoroanilino)-7-methoxy-6-(3-morpholinopropoxy)quinazoline" RELATED [ChemIDplus] synonym: "gefitinib" RELATED INN [WHO_MedNet] synonym: "gefitinibum" RELATED INN [WHO_MedNet] synonym: "Iressa" RELATED BRAND_NAME [ChemIDplus] synonym: "Irressat" RELATED BRAND_NAME [ChemIDplus] synonym: "N-(3-chloro-4-fluorophenyl)-7-methoxy-6-(3-(4-morpholinyl)propoxy)-4-quinazolinamine" RELATED [ChemIDplus] synonym: "N-(3-chloro-4-fluorophenyl)-7-methoxy-6-(3-morpholin-4-ylpropoxy)quinazolin-4-amine" EXACT IUPAC_NAME [IUPAC] synonym: "ZD 1839" RELATED [ChemIDplus] synonym: "ZD-1839" RELATED [DrugBank] synonym: "ZD1839" RELATED [DrugCentral] xref: CAS:184475-35-2 {source="ChemIDplus"} xref: Drug_Central:1282 {source="DrugCentral"} xref: DrugBank:DB00317 xref: HMDB:HMDB0014462 xref: KEGG:D01977 xref: LINCS:LSM-1098 xref: MeSH:C419708 xref: NCIt:C1855 xref: PDBeChem:IRE xref: PMID:14981586 {source="Europe PMC"} xref: PMID:15068398 {source="Europe PMC"} xref: PMID:20573926 {source="Europe PMC"} xref: PMID:20949670 {source="Europe PMC"} xref: PMID:27396387 {source="Europe PMC"} xref: PMID:28968167 {source="Europe PMC"} xref: PMID:29332330 {source="Europe PMC"} xref: PMID:29493460 {source="Europe PMC"} xref: PMID:29579334 {source="Europe PMC"} xref: PMID:29668619 {source="Europe PMC"} xref: PMID:30068310 {source="Europe PMC"} xref: PMID:30069771 {source="Europe PMC"} xref: PMID:30214852 {source="Europe PMC"} xref: Reaxys:8949523 {source="Reaxys"} xref: SNOMEDCT:398685009 xref: SNOMEDCT:407100002 xref: Wikipedia:Gefitinib is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H24ClFN4O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C22H24ClFN4O3/c1-29-20-13-19-16(12-21(20)31-8-2-5-28-6-9-30-10-7-28)22(26-14-25-19)27-15-3-4-18(24)17(23)11-15/h3-4,11-14H,2,5-10H2,1H3,(H,25,26,27)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XGALLCVXEZPNRQ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "446.910" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "446.15210" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C1=C(C(=CC=2C1=NC=NC2NC3=CC(=C(C=C3)F)Cl)OCCCN4CCOCC4)OC" xsd:string [Term] id: CHEBI:49747 name: methylmercury(1+) namespace: chebi_ontology alt_id: CHEBI:30784 alt_id: CHEBI:49745 subset: 3_STAR synonym: "[HgCH3](+)" RELATED [IUPAC] synonym: "[HgMe](+)" RELATED [IUPAC] synonym: "CH3Hg(+)" RELATED [IUPAC] synonym: "CH3Hg+" RELATED [KEGG_COMPOUND] synonym: "METHYL MERCURY ION" RELATED [PDBeChem] synonym: "Methylmercury II" RELATED [ChemIDplus] synonym: "Methylmercury ion" RELATED [KEGG_COMPOUND] synonym: "methylmercury ion(1+)" RELATED [ChemIDplus] synonym: "methylmercury(1+)" EXACT IUPAC_NAME [IUPAC] synonym: "methylmercury(II)" RELATED [IUPAC] synonym: "methylmercury(II) cation" RELATED [ChemIDplus] synonym: "monomethylmercury cation" RELATED [ChemIDplus] xref: Beilstein:3902999 {source="Beilstein"} xref: CAS:22967-92-6 {source="ChemIDplus"} xref: DrugBank:DB03674 xref: Gmelin:1406 {source="Gmelin"} xref: KEGG:C18672 xref: PDBeChem:MMC is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "+1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "CH3Hg" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/CH3.Hg/h1H3;/q;+1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DBUXSCUEGJMZAE-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "215.62452" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "216.99357" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[Hg+]" xsd:string [Term] id: CHEBI:4975 name: famotidine namespace: chebi_ontology subset: 3_STAR synonym: "(1-Amino-3-(((2-((diaminomethylene)amino)-4-thiazolyl)methyl)thio)propylidene)sulfamide" RELATED [ChemIDplus] synonym: "3-(((2-((Aminoiminomethyl)amino)-4-thiazolyl)methyl)thio)-N-(aminosulfonyl)propanimidamide" RELATED [ChemIDplus] synonym: "3-(((2-((Diaminomethylene)amino)-4-thiazolyl)methyl)thio)-N(sup 2)-sulfamoylpropionamidine" RELATED [ChemIDplus] synonym: "famotidina" RELATED INN [ChemIDplus] synonym: "famotidine" RELATED INN [ChemIDplus] synonym: "famotidinum" RELATED INN [ChemIDplus] synonym: "N'-(aminosulfonyl)-3-[({2-[(diaminomethylidene)amino]-1,3-thiazol-4-yl}methyl)sulfanyl]propanimidamide" EXACT IUPAC_NAME [IUPAC] synonym: "N-Sulfamoyl-3-((2-guanidinothiazol-4-yl)methylthio)propionamide" RELATED [ChemIDplus] synonym: "Pepcid" RELATED BRAND_NAME [DrugBank] xref: Beilstein:5767271 {source="Beilstein"} xref: CAS:76824-35-6 {source="ChemIDplus"} xref: CAS:76824-35-6 {source="KEGG DRUG"} xref: Drug_Central:1129 {source="DrugCentral"} xref: DrugBank:DB00927 xref: KEGG:D00318 xref: LINCS:LSM-5201 xref: Wikipedia:Famotidine is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H15N7O2S3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H15N7O2S3/c9-6(15-20(12,16)17)1-2-18-3-5-4-19-8(13-5)14-7(10)11/h4H,1-3H2,(H2,9,15)(H2,12,16,17)(H4,10,11,13,14)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XUFQPHANEAPEMJ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "337.44868" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "337.04494" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NC(N)=Nc1nc(CSCCC(N)=NS(N)(=O)=O)cs1" xsd:string [Term] id: CHEBI:49798 name: tetraethylenepentamine namespace: chebi_ontology alt_id: CHEBI:35007 alt_id: CHEBI:49797 subset: 3_STAR synonym: "1,11-Diamino-3,6,9-triazaundecane" RELATED [KEGG_COMPOUND] synonym: "1,4,7,10,13-pentaazatridecane" RELATED [NIST_Chemistry_WebBook] synonym: "3,6,9-triazaundecamethylenediamine" RELATED [NIST_Chemistry_WebBook] synonym: "3,6,9-triazaundecane-1,11-diamine" RELATED [NIST_Chemistry_WebBook] synonym: "N-(2-aminoethyl)-N'-[2-[(2-aminoethyl)amino]ethyl]-1,2-ethanediamine" RELATED [NIST_Chemistry_WebBook] synonym: "N-(2-aminoethyl)-N'-{2-[(2-aminoethyl)amino]ethyl}ethane-1,2-diamine" EXACT IUPAC_NAME [IUPAC] synonym: "TEPA" RELATED [NIST_Chemistry_WebBook] synonym: "Tetraethylenepentamine" EXACT [KEGG_COMPOUND] synonym: "Tetraethylenpentamin" RELATED [ChEBI] synonym: "tetren" RELATED [IUPAC] xref: Beilstein:506966 {source="Beilstein"} xref: CAS:112-57-2 {source="ChemIDplus"} xref: CAS:112-57-2 {source="NIST Chemistry WebBook"} xref: CAS:112-57-2 {source="KEGG COMPOUND"} xref: ChEMBL:331313 xref: ChemIDplus:112-57-2 xref: Gmelin:51196 {source="Gmelin"} xref: KEGG COMPOUND:112-57-2 xref: KEGG COMPOUND:C14690 xref: KEGG:C14690 xref: LINCS:LSM-5530 xref: MeSH:C034269 xref: NIST Chemistry WebBook:112-57-2 is_a: EFO:0004417 ! amide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H23N5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H23N5/c9-1-3-11-5-7-13-8-6-12-4-2-10/h11-13H,1-10H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FAGUFWYHJQFNRV-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "189.30192" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "189.19535" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NCCNCCNCCNCCN" xsd:string [Term] id: CHEBI:4991 name: iron(III) dicitrate(3-) namespace: chebi_ontology def: "The complex formed between iron(III) and citrate." [] subset: 3_STAR synonym: "bis[2-hydroxypropane-1,2,3-tricarboxylato(3-)-kappa(3)O(1),O(2),O(3)]ferrate(3-)" EXACT IUPAC_NAME [IUPAC] synonym: "Fe(III)dicitrate" RELATED [KEGG_COMPOUND] synonym: "iron(III) dicitrate" RELATED [UniProt] synonym: "Iron(III)dicitrate" RELATED [KEGG_COMPOUND] xref: CiteXplore:11872840 "PubMed citation" xref: PMID:11872840 {source="Europe PMC"} is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "-3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12H10FeO14" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/2C6H8O7.Fe/c2*7-3(8)1-6(13,5(11)12)2-4(9)10;/h2*13H,1-2H2,(H,7,8)(H,9,10)(H,11,12);/q;;+3/p-6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VAVAILGEOMLRRK-UHFFFAOYSA-H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "434.045" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "433.94364" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O1C([C@@]2(O)CC(O[Fe-3]341(OC([C@](O)(CC(O3)=O)CC(O4)=O)=O)OC(C2)=O)=O)=O" xsd:string [Term] id: CHEBI:5001 name: fenofibrate namespace: chebi_ontology def: "A chlorobenzophenone that is (4-chlorophenyl)(phenyl)methanone substituted by a [2-methyl-1-oxo-1-(propan-2-yloxy)propan-2-yl]oxy group at position 1 on the phenyl ring." [] subset: 3_STAR synonym: "2-(4-(4-Chlorobenzoyl)phenoxy)-2-methylpropanoic acid 1-methylethyl ester" RELATED [ChemIDplus] synonym: "Antara" RELATED BRAND_NAME [DrugBank] synonym: "Fenofibrate" EXACT [KEGG_COMPOUND] synonym: "Finofibrate" RELATED [DrugBank] synonym: "FNF" RELATED [DrugBank] synonym: "Isopropyl (4'-(p-chlorobenzoyl)-2-phenoxy-2-methyl)propionate" RELATED [ChemIDplus] synonym: "Isopropyl 2-(4-(4-chlorobenzoyl)phenoxy)-2-methylpropionate" RELATED [ChemIDplus] synonym: "Lipantil" RELATED BRAND_NAME [KEGG_DRUG] synonym: "Lipofen" RELATED BRAND_NAME [KEGG_DRUG] synonym: "Procetofen" RELATED [ChemIDplus] synonym: "propan-2-yl 2-[4-(4-chlorobenzoyl)phenoxy]-2-methylpropanoate" EXACT IUPAC_NAME [IUPAC] synonym: "Tricor" RELATED BRAND_NAME [KEGG_DRUG] synonym: "Triglide" RELATED BRAND_NAME [KEGG_DRUG] xref: CAS:49562-28-9 {source="ChemIDplus"} xref: CAS:49562-28-9 {source="NIST Chemistry WebBook"} xref: ChemIDplus:49562-28-9 "CAS Registry Number" xref: Chemspider:3222 xref: Drug_Central:1152 {source="DrugCentral"} xref: DrugBank:DB01039 "DrugBank" xref: DrugBank:DB01039 xref: HMDB:HMDB0015173 xref: KEGG COMPOUND:49562-28-9 "CAS Registry Number" xref: KEGG COMPOUND:C07586 "KEGG COMPOUND" xref: KEGG DRUG:D00565 "KEGG DRUG" xref: KEGG:C07586 xref: KEGG:D00565 xref: LINCS:LSM-3107 xref: MeSH:D011345 xref: NCIt:C29047 xref: Patent:DE2250327 "Patent" xref: Patent:DE2250327 xref: Patent:US4058552 "Patent" xref: Patent:US4058552 xref: PMID:17449930 {source="Europe PMC"} xref: PMID:18212815 {source="Europe PMC"} xref: PMID:23603800 {source="Europe PMC"} xref: PMID:32675219 {source="Europe PMC"} xref: PMID:33704429 {source="Europe PMC"} xref: PMID:34244236 {source="Europe PMC"} xref: PMID:34515330 {source="Europe PMC"} xref: Reaxys:2062462 {source="Reaxys"} xref: SNOMEDCT:108603001 xref: SNOMEDCT:386879008 xref: Wikipedia:Fenofibrate "Wikipedia" xref: Wikipedia:Fenofibrate is_a: CHEBI:24431 ! chemical entity relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H21ClO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H21ClO4/c1-13(2)24-19(23)20(3,4)25-17-11-7-15(8-12-17)18(22)14-5-9-16(21)10-6-14/h5-13H,1-4H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YMTINGFKWWXKFG-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "360.83100" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "360.11284" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)OC(=O)C(C)(C)Oc1ccc(cc1)C(=O)c1ccc(Cl)cc1" xsd:string [Term] id: CHEBI:5002 name: fenoldopam namespace: chebi_ontology subset: 3_STAR synonym: "6-chloro-1-(4-hydroxyphenyl)-2,3,4,5-tetrahydro-1H-3-benzazepine-7,8-diol" EXACT IUPAC_NAME [IUPAC] synonym: "fenoldopam" RELATED INN [ChEBI] synonym: "fenoldopam" RELATED INN [ChemIDplus] synonym: "fenoldopamum" RELATED INN [ChemIDplus] xref: CAS:67227-56-9 {source="ChemIDplus"} xref: ChemIDplus:67227-56-9 "CAS Registry Number" xref: Drug_Central:1153 {source="DrugCentral"} xref: DrugBank:DB00800 "DrugBank" xref: DrugBank:DB00800 xref: KEGG COMPOUND:C07693 "KEGG COMPOUND" xref: KEGG:C07693 xref: KEGG:D07946 xref: LINCS:LSM-1609 xref: MeSH:D018818 xref: NCIt:C61759 xref: Patent:DE2751258 "Patent" xref: Patent:DE2751258 xref: Patent:US4197297 "Patent" xref: Patent:US4197297 xref: SNOMEDCT:108590002 xref: SNOMEDCT:409138007 xref: Wikipedia:Fenoldopam "Wikipedia" xref: Wikipedia:Fenoldopam is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:35569 ! alpha-adrenergic agonist relationship: has_role CHEBI:35620 ! vasodilator agent relationship: has_role CHEBI:48561 ! dopaminergic antagonist relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C16H16ClNO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C16H16ClNO3/c17-15-11-5-6-18-8-13(9-1-3-10(19)4-2-9)12(11)7-14(20)16(15)21/h1-4,7,13,18-21H,5-6,8H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "TVURRHSHRRELCG-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "305.75588" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "305.08187" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Oc1ccc(cc1)C1CNCCc2c(Cl)c(O)c(O)cc12" xsd:string [Term] id: CHEBI:50059 name: imidazolium cation namespace: chebi_ontology alt_id: CHEBI:33136 alt_id: CHEBI:43380 def: "An imidazolium ion that is the cation resulting from protonation at the 3-position of 1H-imidazole." [] subset: 3_STAR synonym: "1H-imidazol-3-ium" EXACT IUPAC_NAME [IUPAC] synonym: "H2im(+)" RELATED [IUPAC] synonym: "IMIDAZOLE" RELATED [PDBeChem] synonym: "imidazolium" RELATED [IUPAC] synonym: "imidazolium ion" RELATED [ChEBI] xref: Beilstein:3536580 {source="Beilstein"} xref: Beilstein:4127185 {source="Beilstein"} xref: Gmelin:122674 {source="Gmelin"} xref: PDBeChem:IMD is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "+1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H5N2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H4N2/c1-2-5-3-4-1/h1-3H,(H,4,5)/p+1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RAXXELZNTBOGNW-UHFFFAOYSA-O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "69.08470" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "69.04472" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "c1c[nH+]c[nH]1" xsd:string [Term] id: CHEBI:50091 name: S-nitrosoglutathione namespace: chebi_ontology def: "A glutathione derivative that is glutathione in which the hydrogen attached to the sulfur has been replaced by a nitroso group." [] subset: 3_STAR synonym: "glutathione thionitrite" RELATED [ChemIDplus] synonym: "GSNO" RELATED [ChemIDplus] synonym: "L-gamma-glutamyl-S-nitroso-L-cysteinylglycine" EXACT IUPAC_NAME [IUPAC] synonym: "N-(N-L-gamma-glutamyl-S-nitroso-L-cysteinyl)glycine" RELATED [ChemIDplus] synonym: "nitrosoglutathione" RELATED [ChemIDplus] synonym: "SNOG" RELATED [ChemIDplus] xref: AGR:IND607176621 {source="Europe PMC"} xref: Beilstein:3566211 {source="ChemIDplus"} xref: CAS:57564-91-7 {source="ChemIDplus"} xref: Chemspider:94647 xref: FooDB:FDB023390 xref: HMDB:HMDB0004645 xref: PMCID:PMC8533914 {source="Europe PMC"} xref: PMID:10070107 {source="Europe PMC"} xref: PMID:11152625 {source="Europe PMC"} xref: PMID:11406512 {source="Europe PMC"} xref: PMID:11749666 {source="Europe PMC"} xref: PMID:11914258 {source="Europe PMC"} xref: PMID:12500091 {source="Europe PMC"} xref: PMID:14766015 {source="Europe PMC"} xref: PMID:16857740 {source="Europe PMC"} xref: PMID:17022806 {source="Europe PMC"} xref: PMID:17403694 {source="Europe PMC"} xref: PMID:17593005 {source="Europe PMC"} xref: PMID:18171019 {source="Europe PMC"} xref: PMID:19395503 {source="Europe PMC"} xref: PMID:20091246 {source="Europe PMC"} xref: PMID:29868937 {source="Europe PMC"} xref: PMID:30449192 {source="Europe PMC"} xref: PMID:31374192 {source="Europe PMC"} xref: PMID:31680031 {source="Europe PMC"} xref: PMID:31766125 {source="Europe PMC"} xref: PMID:31846803 {source="Europe PMC"} xref: PMID:32523344 {source="Europe PMC"} xref: PMID:32942712 {source="Europe PMC"} xref: PMID:32952953 {source="Europe PMC"} xref: PMID:33021079 {source="Europe PMC"} xref: PMID:33458941 {source="Europe PMC"} xref: PMID:33772588 {source="Europe PMC"} xref: PMID:33918310 {source="Europe PMC"} xref: PMID:34175668 {source="Europe PMC"} xref: PMID:9278333 {source="Europe PMC"} xref: Wikipedia:S-Nitrosoglutathione is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H16N4O7S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H16N4O7S/c11-5(10(19)20)1-2-7(15)13-6(4-22-14-21)9(18)12-3-8(16)17/h5-6H,1-4,11H2,(H,12,18)(H,13,15)(H,16,17)(H,19,20)/t5-,6-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HYHSBSXUHZOYLX-WDSKDSINSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "336.320" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "336.07397" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "N[C@@H](CCC(=O)N[C@@H](CSN=O)C(=O)NCC(=O)O)C(=O)O" xsd:string [Term] id: CHEBI:50095 name: bucladesine namespace: chebi_ontology alt_id: CHEBI:143000 def: "A 3',5'-cyclic purine nucleotide that is the 2'-butanoate ester and 6-N-butanoyl derivative of 3',5'-cyclic AMP." [] subset: 3_STAR synonym: "(4aR,6R,7R,7aR)-6-(6-butanamido-9H-purin-9-yl)-2-hydroxy-2-oxidotetrahydro-4H-furo[3,2-d][1,3,2]dioxaphosphinin-7-yl butanoate" EXACT IUPAC_NAME [IUPAC] synonym: "3',5'-cyclic AMP dibutyrate" RELATED [ChemIDplus] synonym: "6-N-butanoyl-2'-O-butanoyladenosine 3',5'-(hydrogen phosphate)" EXACT IUPAC_NAME [IUPAC] synonym: "Bt2cAMP" RELATED [SUBMITTER] synonym: "bucladesina" RELATED INN [ChemIDplus] synonym: "bucladesine" RELATED INN [ChemIDplus] synonym: "bucladesinum" RELATED INN [ChemIDplus] synonym: "dbcAMP" RELATED [DrugCentral] synonym: "dibutyryl 3',5'-cyclic AMP" RELATED [ChemIDplus] synonym: "dibutyryl adenosine 3',5'-cyclic phosphate" RELATED [ChemIDplus] synonym: "dibutyryl adenosine 3',5'-monophosphate" RELATED [ChemIDplus] synonym: "dibutyryl cAMP" RELATED [ChemIDplus] synonym: "dibutyryl cyclic 3',5'-adenylic acid" RELATED [ChemIDplus] synonym: "dibutyryl cyclic adenosine 3',5'-monophosphate" RELATED [ChemIDplus] synonym: "dibutyryl cyclic AMP" RELATED [ChemIDplus] synonym: "dibutyryl-3',5'-AMP" RELATED [ChemIDplus] synonym: "dibutyryladenosine 3',5'-cyclic monophosphate" RELATED [ChemIDplus] synonym: "dibutyryladenosine cyclic monophosphate" RELATED [ChemIDplus] synonym: "N(6),2'-O-dibutyryl cAMP" RELATED [ChemIDplus] synonym: "N(6),2'-O-dibutyryl cyclic AMP" RELATED [ChemIDplus] synonym: "N(6),O(2')-dibutyryl adenosine 3',5'-cyclic monophosphate" RELATED [ChemIDplus] synonym: "N(6),O(2')-dibutyryl cAMP" RELATED [ChemIDplus] synonym: "N(6),O(2')-dibutyryl cyclic 3',5'-AMP" RELATED [ChemIDplus] synonym: "N(6),O(2')-dibutyryl cyclic AMP" RELATED [ChemIDplus] synonym: "N(6),O(2')-dibutyryl-3',5'-cyclic AMP" RELATED [ChemIDplus] synonym: "N(6),O(2')-dibutyryladenosine 3',5'-monophosphate" RELATED [ChemIDplus] xref: Beilstein:871714 {source="Beilstein"} xref: CAS:362-74-3 {source="KEGG DRUG"} xref: CAS:362-74-3 {source="ChemIDplus"} xref: Drug_Central:415 {source="DrugCentral"} xref: KEGG:D07546 xref: LINCS:LSM-1926 xref: MeSH:D003994 xref: NCIt:C83562 xref: PMID:15231695 {source="Europe PMC"} xref: PMID:20353690 {source="Europe PMC"} xref: PMID:23335001 {source="Europe PMC"} xref: PMID:27022216 {source="Europe PMC"} xref: PMID:29963999 {source="Europe PMC"} xref: Reaxys:871714 {source="Reaxys"} xref: Wikipedia:Bucladesine is_a: CHEBI:18059 ! lipid is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:26020 ! phosphate relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H24N5O8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H24N5O8P/c1-3-5-11(24)22-16-13-17(20-8-19-16)23(9-21-13)18-15(30-12(25)6-4-2)14-10(29-18)7-28-32(26,27)31-14/h8-10,14-15,18H,3-7H2,1-2H3,(H,26,27)(H,19,20,22,24)/t10-,14-,15-,18-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CJGYSWNGNKCJSB-YVLZZHOMSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "469.391" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "469.13625" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C@H]12O[C@H]([C@@H]([C@@H]1OP(OC2)(=O)O)OC(=O)CCC)N3C=NC=4C(=NC=NC34)NC(=O)CCC" xsd:string [Term] id: CHEBI:50103 name: excitatory amino acid agonist namespace: chebi_ontology def: "An agent that binds to and activates excitatory amino acid receptors." [] subset: 3_STAR synonym: "excitatory amino acid agonists" RELATED [ChEBI] synonym: "excitatory amino acid receptor agonist" RELATED [ChEBI] synonym: "excitatory amino acid receptor agonists" RELATED [ChEBI] xref: MeSH:D018690 is_a: CHEBI:23888 ! drug is_a: CHEBI:24432 ! biological role is_a: EFO:0001899 ! drug role [Term] id: CHEBI:50112 name: sex hormone namespace: chebi_ontology def: "Any hormone that is responsible for controlling sexual characteristics and reproductive function." [] subset: 3_STAR synonym: "Geschlechtshormon" RELATED [ChEBI] synonym: "Geschlechtshormone" RELATED [ChEBI] synonym: "hormone sexuelle" RELATED [ChEBI] synonym: "hormones sexuelles" RELATED [ChEBI] synonym: "sex hormones" RELATED [ChEBI] synonym: "Sexualhormon" RELATED [ChEBI] synonym: "Sexualhormone" RELATED [ChEBI] xref: SNOMEDCT:312263009 is_a: CHEBI:24621 ! hormone is_a: EFO:0001824 ! hormone role [Term] id: CHEBI:50113 name: androgen namespace: chebi_ontology def: "A sex hormone that stimulates or controls the development and maintenance of masculine characteristics in vertebrates by binding to androgen receptors." [] subset: 3_STAR synonym: "Androgen" EXACT [ChEBI] synonym: "Androgene" RELATED [ChEBI] synonym: "androgene" RELATED [ChEBI] synonym: "androgenes" RELATED [ChEBI] synonym: "androgeno" RELATED [ChEBI] synonym: "androgenos" RELATED [ChEBI] synonym: "androgens" RELATED [ChEBI] xref: MeSH:D000728 xref: NCIt:C2298 xref: SNOMEDCT:84629008 is_a: CHEBI:24431 ! chemical entity is_a: CHEBI:50112 ! sex hormone relationship: has_role CHEBI:50112 ! sex hormone [Term] id: CHEBI:50114 name: estrogen namespace: chebi_ontology def: "A hormone that stimulates or controls the development and maintenance of female sex characteristics in mammals by binding to oestrogen receptors. The oestrogens are named for their importance in the oestrous cycle. The oestrogens that occur naturally in the body, notably estrone, estradiol, estriol, and estetrol are steroids. Other compounds with oestrogenic activity are produced by plants (phytoestrogens) and fungi (mycoestrogens); synthetic compounds with oestrogenic activity are known as xenoestrogens." [] subset: 3_STAR synonym: "Estrogene" RELATED [ChEBI] synonym: "estrogene" RELATED [ChEBI] synonym: "estrogenes" RELATED [ChEBI] synonym: "estrogenes Hormon" RELATED [ChEBI] synonym: "estrogeno" RELATED [ChEBI] synonym: "estrogenos" RELATED [ChEBI] synonym: "estrogens" RELATED [ChEBI] synonym: "Oestrogen" RELATED [ChEBI] synonym: "oestrogen" RELATED [ChEBI] synonym: "Oestrogene" RELATED [ChEBI] synonym: "oestrogene" RELATED [ChEBI] synonym: "oestrogenes" RELATED [ChEBI] synonym: "oestrogens" RELATED [ChEBI] xref: MeSH:D004967 xref: NCIt:C2293 xref: NIFSTD:nifext_5156 xref: SNOMEDCT:41598000 xref: Wikipedia:Estrogen is_a: CHEBI:24431 ! chemical entity is_a: CHEBI:50112 ! sex hormone relationship: has_role CHEBI:50112 ! sex hormone [Term] id: CHEBI:50122 name: rosiglitazone namespace: chebi_ontology subset: 3_STAR synonym: "5-((4-(2-(methyl-2-pyridinylamino)ethoxy)phenyl)methyl)-2,4-thiazolidinedione" RELATED [ChemIDplus] synonym: "5-(4-{2-[methyl(pyridin-2-yl)amino]ethoxy}benzyl)-1,3-thiazolidine-2,4-dione" EXACT IUPAC_NAME [IUPAC] synonym: "BRL-49653" RELATED [ChemIDplus] synonym: "rosiglitazona" RELATED INN [ChEBI] synonym: "rosiglitazone" RELATED INN [ChemIDplus] synonym: "rosiglitazonum" RELATED INN [ChEBI] xref: Beilstein:7082202 {source="Beilstein"} xref: CAS:122320-73-4 {source="ChemIDplus"} xref: ChEMBL:120027 xref: ChemIDplus:122320-73-4 xref: Drug_Central:2405 {source="DrugCentral"} xref: DrugBank:DB00412 xref: LINCS:LSM-1949 xref: MeSH:C089730 xref: NCIt:C62076 xref: Patent:EP306228 xref: Patent:US5002953 xref: PMID:17259370 {source="Europe PMC"} xref: PMID:30225267 {source="Europe PMC"} xref: PMID:31936729 {source="Europe PMC"} xref: PMID:32234642 {source="Europe PMC"} xref: PMID:33650786 {source="Europe PMC"} xref: PMID:33746608 {source="Europe PMC"} xref: SNOMEDCT:326053005 xref: SNOMEDCT:395869000 xref: Wikipedia:Rosiglitazone is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:50864 ! insulin-sensitizing drug property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H19N3O3S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H19N3O3S/c1-21(16-4-2-3-9-19-16)10-11-24-14-7-5-13(6-8-14)12-15-17(22)20-18(23)25-15/h2-9,15H,10-12H2,1H3,(H,20,22,23)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YASAKCUCGLMORW-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "357.42700" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "357.11471" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN(CCOc1ccc(CC2SC(=O)NC2=O)cc1)c1ccccn1" xsd:string [Term] id: CHEBI:50131 name: 5-aza-2'-deoxycytidine namespace: chebi_ontology subset: 3_STAR synonym: "4-amino-1-(2-deoxy-beta-D-erythro-pentofuranosyl)-1,3,5-triazin-2(1H)-one" EXACT IUPAC_NAME [IUPAC] synonym: "4-amino-1-(2-deoxy-beta-D-erythro-pentofuranosyl)-s-triazin-2(1H)-one" RELATED [ChemIDplus] synonym: "5-azadeoxycytidine" RELATED [ChemIDplus] synonym: "decitabine" RELATED INN [ChemIDplus] xref: Beilstein:617982 {source="Beilstein"} xref: CAS:2353-33-5 {source="ChemIDplus"} xref: ChEMBL:775080 xref: ChemIDplus:2353-33-5 xref: Drug_Central:790 {source="DrugCentral"} xref: DrugBank:DB01262 xref: LINCS:LSM-5855 xref: MeSH:C014347 xref: NCIt:C981 xref: SNOMEDCT:420517007 xref: SNOMEDCT:420759005 xref: Wikipedia:Decitabine is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H12N4O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H12N4O4/c9-7-10-3-12(8(15)11-7)6-1-4(14)5(2-13)16-6/h3-6,13-14H,1-2H2,(H2,9,11,15)/t4-,5+,6+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XAUDJQYHKZQPEU-KVQBGUIXSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "228.20544" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "228.08585" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Nc1ncn([C@H]2C[C@H](O)[C@@H](CO)O2)c(=O)n1" xsd:string [Term] id: CHEBI:50138 name: lonidamine namespace: chebi_ontology def: "A member of the class of indazoles that is 1H-indazole that is substituted at positions 1 and 3 by 2,4-dichlorobenzyl and carboxy groups, respectively." [] subset: 3_STAR synonym: "1-(2,4-dichlorbenzyl)-indazole-3-carboxylic acid" RELATED [ChemIDplus] synonym: "1-(2,4-dichlorobenzyl)-1H-indazole-3-carboxylic acid" EXACT IUPAC_NAME [IUPAC] synonym: "DICA" RELATED [ChemIDplus] synonym: "diclondazolic acid" RELATED [ChemIDplus] synonym: "Doridamina" RELATED BRAND_NAME [ChemIDplus] synonym: "Lonidamin" RELATED [ChEBI] synonym: "lonidamina" RELATED INN [ChemIDplus] synonym: "lonidamine" RELATED INN [ChemIDplus] synonym: "lonidaminum" RELATED INN [ChemIDplus] xref: Beilstein:894483 {source="Beilstein"} xref: CAS:50264-69-2 {source="ChemIDplus"} xref: CAS:50264-69-2 {source="NIST Chemistry WebBook"} xref: Drug_Central:1598 {source="DrugCentral"} xref: DrugBank:DB06266 xref: HMDB:HMDB0254158 xref: KEGG:D07257 xref: LINCS:LSM-6272 xref: MeSH:C016371 xref: NCIt:C1146 xref: Patent:DE2310031 xref: Patent:US3895026 xref: PMID:21932172 {source="Europe PMC"} xref: PMID:26831515 {source="Europe PMC"} xref: PMID:27497601 {source="Europe PMC"} xref: PMID:33292203 {source="Europe PMC"} xref: PMID:33312209 {source="Europe PMC"} xref: Wikipedia:Lonidamine is_a: CHEBI:24532 ! organic heterocyclic compound is_a: EFO:0004416 ! acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C15H10Cl2N2O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C15H10Cl2N2O2/c16-10-6-5-9(12(17)7-10)8-19-13-4-2-1-3-11(13)14(18-19)15(20)21/h1-7H,8H2,(H,20,21)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WDRYRZXSPDWGEB-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "321.15758" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "320.01193" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)c1nn(Cc2ccc(Cl)cc2Cl)c2ccccc12" xsd:string [Term] id: CHEBI:50144 name: sodium pyruvate namespace: chebi_ontology subset: 3_STAR synonym: "Natriumpyruvat" RELATED [ChEBI] synonym: "pyruvic acid, sodium salt" RELATED [ChemIDplus] synonym: "sodium 2-oxopropanoate" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:3568341 {source="Beilstein"} xref: CAS:113-24-6 {source="ChemIDplus"} xref: Gmelin:97013 {source="Gmelin"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H3NaO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H4O3.Na/c1-2(4)3(5)6;/h1H3,(H,5,6);/q;+1/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DAEPDZWVDSPTHF-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "110.04389" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "109.99799" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Na+].CC(=O)C([O-])=O" xsd:string [Term] id: CHEBI:50148 name: 4-[3-(4-tert-butylphenyl)-2-methylpropyl]-2,6-dimethylmorpholine namespace: chebi_ontology def: "A member of the class of morpholines that is 2,6-dimethylmorpholine in which the hydrogen attached to the nitrogen is replaced by a 3-(p-tert-butylphenyl)-2-methylpropyl group." [] subset: 3_STAR synonym: "4-[3-(4-tert-butylphenyl)-2-methylpropyl]-2,6-dimethylmorpholine" EXACT IUPAC_NAME [IUPAC] synonym: "4-[3-[4-(1,1-dimethylethyl)phenyl]-2-methylpropyl]-2,6-dimethylmorpholine" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:884766 {source="Beilstein"} xref: CAS:67306-03-0 {source="ChemIDplus"} xref: CAS:67306-03-0 {source="NIST Chemistry WebBook"} xref: MeSH:C050435 xref: Patent:DE2656747 is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:35718 ! antifungal agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H33NO" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H33NO/c1-15(12-21-13-16(2)22-17(3)14-21)11-18-7-9-19(10-8-18)20(4,5)6/h7-10,15-17H,11-14H2,1-6H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RYAUSSKQMZRMAI-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "303.48210" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "303.25621" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(CN1CC(C)OC(C)C1)Cc1ccc(cc1)C(C)(C)C" xsd:string [Term] id: CHEBI:50154 name: 1,1-bis(2-aminoethyl)-2-hydroxy-3-oxotriazane namespace: chebi_ontology def: "A nitroso compound that is triazane in which the the nitrogen at position 1 is substituted by two 2-aminoethyl groups, that at position 2 is substituted by a hydroxy group, and that at position 3 is substituted by an oxo group." [] subset: 3_STAR synonym: "1,1-bis(2-aminoethyl)-2-hydroxy-3-oxotriazane" EXACT IUPAC_NAME [IUPAC] synonym: "2,2'-(hydroxynitrosohydrazino)bis-ethanamine" RELATED [ChemIDplus] synonym: "DETA NONOate" RELATED [ChemIDplus] synonym: "diethylenetriamine NONOate" RELATED [ChEBI] synonym: "NOC-18" RELATED [ChemIDplus] xref: Beilstein:8139626 {source="Beilstein"} xref: CAS:146724-94-9 {source="ChemIDplus"} xref: PMID:10471084 {source="Europe PMC"} xref: PMID:12924710 {source="Europe PMC"} xref: PMID:16378139 {source="Europe PMC"} xref: PMID:18512047 {source="Europe PMC"} xref: PMID:19785659 {source="Europe PMC"} xref: PMID:19935078 {source="Europe PMC"} xref: PMID:20173509 {source="Europe PMC"} xref: Reaxys:8139626 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H13N5O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H13N5O2/c5-1-3-8(4-2-6)9(11)7-10/h11H,1-6H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HMRRJTFDJAVRMR-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "163.17852" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "163.10692" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NCCN(CCN)N(O)N=O" xsd:string [Term] id: CHEBI:50159 name: canrenoate namespace: chebi_ontology subset: 3_STAR synonym: "17beta-hydroxy-3-oxo-21a-homopregna-4,6-dien-21a-oate" EXACT IUPAC_NAME [IUPAC] synonym: "3-[(8R,9S,10R,13S,14S,17R)-17-hydroxy-10,13-dimethyl-3-oxo-2,3,8,9,10,11,12,13,14,15,16,17-dodecahydro-1H-cyclopenta[a]phenanthren-17-yl]propanoate" RELATED [IUPAC] xref: Beilstein:6282718 {source="Beilstein"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H29O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C22H30O4/c1-20-9-5-15(23)13-14(20)3-4-16-17(20)6-10-21(2)18(16)7-11-22(21,26)12-8-19(24)25/h3-4,13,16-18,26H,5-12H2,1-2H3,(H,24,25)/p-1/t16-,17+,18+,20+,21+,22-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PBKZPPIHUVSDNM-WNHSNXHDSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "357.46326" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "357.20713" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]12CC[C@@]3(C)[C@@]([H])(CC[C@@]3(O)CCC([O-])=O)[C@]1([H])C=CC1=CC(=O)CC[C@]21C" xsd:string [Term] id: CHEBI:50161 name: motexafin gadolinium namespace: chebi_ontology subset: 3_STAR synonym: "(PB-7-11-233'2'4)-bis(acetato-kappaO)(9,10-diethyl-20,21-bis(2-(2-(2-methoxyethoxy)ethoxy)ethoxy)-4,15-dimethyl-8,11-imino-3,6:16,13-dinitrilo-1,18-benzodiazacycloeicosine-5,14-dipropanolato-kappaN(1),kappaN(18),kappaN(23),kappaN(24),kappaN(25))gadolinium" RELATED [ChemIDplus] synonym: "bis(acetato-kappaO){3,3'-[4,5-diethyl-16,17-bis{2-[2-(2-methoxyethoxy)ethoxy]ethoxy}-10,23-dimethyl-13,20,25,26,27-pentaazapentacyclo[20.2.1.1(3,6).1(8,11).0(14,19)]heptacosa-1,3,5,7,9,11(26),12,14,16,18,20,22(25),23-tridecaene-9,24-diyl-kappa(5)N(13),N(20),N(25),N(26),N(27)]dipropan-1-olato}gadolinium" EXACT IUPAC_NAME [IUPAC] synonym: "gadolinium texaphyrin" RELATED [ChemIDplus] synonym: "Gd texaphyrin" RELATED [ChemIDplus] synonym: "Gd-Tex" RELATED [ChemIDplus] synonym: "MGd" RELATED [ChEBI] synonym: "Xcytrin" RELATED BRAND_NAME [ChemIDplus] xref: Beilstein:10643305 {source="Beilstein"} xref: CAS:246252-06-2 {source="ChemIDplus"} xref: Gmelin:1458776 {source="Gmelin"} xref: Gmelin:1760576 {source="Gmelin"} xref: MeSH:C437683 xref: NCIt:C1881 xref: Patent:US2005159401 xref: PMID:17112739 {source="Europe PMC"} is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:35610 ! antineoplastic agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C52H72GdN5O14" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C48H66N5O10.2C2H4O2.Gd/c1-7-35-36(8-2)40-28-42-38(12-10-14-55)34(4)46(53-42)32-50-44-30-48(63-26-24-61-22-20-59-18-16-57-6)47(62-25-23-60-21-19-58-17-15-56-5)29-43(44)49-31-45-33(3)37(11-9-13-54)41(52-45)27-39(35)51-40;2*1-2(3)4;/h27-32,54-55H,7-26H2,1-6H3;2*1H3,(H,3,4);/q-1;;;+3/p-2/b39-27-,40-28-,41-27-,42-28-,45-31-,46-32-,49-31+,49-43+,50-32+,50-44+;;;" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VAZLWPAHMORDGR-WRIGXHCHSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "1148.40338" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "1148.43169" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCc1c(CC)c2C=C3C(CCCO)=C(C)C4=[N]3[Gd]356(OC(C)=O)(OC(C)=O)[N](=CC7=[N]3C(=Cc1n25)C(CCCO)=C7C)c1cc(OCCOCCOCCOC)c(OCCOCCOCCOC)cc1[N]6=C4" xsd:string [Term] id: CHEBI:50177 name: dermatologic drug namespace: chebi_ontology def: "A drug used to treat or prevent skin disorders or for the routine care of skin." [] subset: 3_STAR synonym: "dermatologic agent" RELATED [ChEBI] synonym: "dermatologic drugs" RELATED [ChEBI] synonym: "dermatological agent" RELATED [ChEBI] is_a: CHEBI:23888 ! drug is_a: EFO:0001899 ! drug role [Term] id: CHEBI:50223 name: (+)-dexrazoxane namespace: chebi_ontology subset: 3_STAR synonym: "(+)-(S)-4,4'-Propylenedi-2,6-piperazinedione" RELATED [ChemIDplus] synonym: "(+)-1,2-Bis(3,5-dioxo-1-piperazinyl)propane" RELATED [ChemIDplus] synonym: "4,4'-(2S)-propane-1,2-diyldipiperazine-2,6-dione" EXACT IUPAC_NAME [IUPAC] synonym: "dexrazoxane" RELATED INN [ChemIDplus] synonym: "dexrazoxano" RELATED INN [ChemIDplus] synonym: "dexrazoxanum" RELATED INN [ChemIDplus] synonym: "Dextrorazoxane" RELATED [DrugBank] xref: Beilstein:6658412 {source="Beilstein"} xref: Beilstein:8441732 {source="Beilstein"} xref: CAS:24584-09-6 {source="ChemIDplus"} xref: Drug_Central:839 {source="DrugCentral"} xref: DrugBank:DB00380 xref: KEGG:D03730 xref: LINCS:LSM-5248 xref: Wikipedia:Dexrazoxane is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:35554 ! cardiovascular drug relationship: has_role CHEBI:35610 ! antineoplastic agent relationship: has_role CHEBI:35705 ! immunosuppressive agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C11H16N4O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C11H16N4O4/c1-7(15-5-10(18)13-11(19)6-15)2-14-3-8(16)12-9(17)4-14/h7H,2-6H2,1H3,(H,12,16,17)(H,13,18,19)/t7-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BMKDZUISNHGIBY-ZETCQYMHSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "268.26930" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "268.11716" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[C@@H](CN1CC(=O)NC(=O)C1)N1CC(=O)NC(=O)C1" xsd:string [Term] id: CHEBI:50249 name: anticoagulant namespace: chebi_ontology def: "An agent that prevents blood clotting." [] subset: 3_STAR synonym: "anticoagulante" RELATED [ChEBI] synonym: "anticoagulants" RELATED [ChEBI] xref: MeSH:D000925 xref: SNOMEDCT:372862008 xref: SNOMEDCT:81839001 is_a: CHEBI:23888 ! drug is_a: EFO:0001899 ! drug role relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:50266 name: prodrug namespace: chebi_ontology def: "A compound that, on administration, must undergo chemical conversion by metabolic processes before becoming the pharmacologically active drug for which it is a prodrug." [] subset: 3_STAR synonym: "Prodrugs" RELATED [ChEBI] xref: PMID:23993918 {source="Europe PMC"} xref: PMID:23998799 {source="Europe PMC"} xref: PMID:24329110 {source="Europe PMC"} xref: PMID:24628402 {source="Europe PMC"} xref: PMID:24709544 {source="Europe PMC"} xref: PMID:25144792 {source="Europe PMC"} xref: PMID:25157234 {source="Europe PMC"} xref: PMID:25269430 {source="Europe PMC"} xref: PMID:25391982 {source="Europe PMC"} xref: PMID:25591121 {source="Europe PMC"} xref: PMID:25620096 {source="Europe PMC"} xref: PMID:25795057 {source="Europe PMC"} xref: PMID:26028253 {source="Europe PMC"} xref: PMID:26184144 {source="Europe PMC"} xref: PMID:28070577 {source="Europe PMC"} xref: PMID:28215138 {source="Europe PMC"} xref: PMID:28219047 {source="Europe PMC"} xref: PMID:28259775 {source="Europe PMC"} xref: PMID:28319647 {source="Europe PMC"} xref: PMID:28329729 {source="Europe PMC"} xref: PMID:28334528 {source="Europe PMC"} xref: Wikipedia:Prodrug is_a: CHEBI:23888 ! drug is_a: CHEBI:51086 ! chemical role relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:50276 name: EC 5.99.1.2 (DNA topoisomerase) inhibitor namespace: chebi_ontology def: "A topoisomerase inhibitor that inhibits the bacterial enzymes of the DNA topoisomerases, Type I class (EC 5.99.1.2) that catalyze ATP-independent breakage of one of the two strands of DNA, passage of the unbroken strand through the break, and rejoining of the broken strand. These bacterial enzymes reduce the topological stress in the DNA structure by relaxing negatively, but not positively, supercoiled DNA." [] subset: 3_STAR synonym: "DNA topoisomerase inhibitor" RELATED [ChEBI] synonym: "DNA topoisomerase inhibitors" RELATED [ChEBI] synonym: "EC 5.99.1.2 (DNA topoisomerase) inhibitors" RELATED [ChEBI] synonym: "EC 5.99.1.2 (topoisomerase I) inhibitor" RELATED [ChEBI] synonym: "EC 5.99.1.2 (topoisomerase I) inhibitors" RELATED [ChEBI] synonym: "EC 5.99.1.2 inhibitor" RELATED [ChEBI] synonym: "EC 5.99.1.2 inhibitors" RELATED [ChEBI] synonym: "topoisomerase I (EC 5.99.1.2) inhibitor" RELATED [ChEBI] synonym: "topoisomerase I (EC 5.99.1.2) inhibitors" RELATED [ChEBI] synonym: "topoisomerase I inhibitor" RELATED [ChEBI] synonym: "topoisomerase I inhibitors" RELATED [ChEBI] synonym: "type I DNA topoisomerase inhibitor" RELATED [ChEBI] synonym: "type I DNA topoisomerase inhibitors" RELATED [ChEBI] xref: MeSH:D059004 is_a: CHEBI:23924 ! enzyme inhibitor [Term] id: CHEBI:50292 name: cadmium sulfate namespace: chebi_ontology subset: 3_STAR synonym: "cadmium monosulfate" RELATED [ChemIDplus] synonym: "cadmium sulfate" EXACT IUPAC_NAME [IUPAC] synonym: "cadmium sulphate" RELATED [ChemIDplus] synonym: "cadmium(2+) sulfate" EXACT IUPAC_NAME [IUPAC] synonym: "Cadmiumsulfat" RELATED [ChEBI] synonym: "CdSO4" RELATED [IUPAC] synonym: "Kadmiumsulfat" RELATED [ChEBI] synonym: "sulfate de cadmium" RELATED [ChEBI] synonym: "sulfato de cadmio" RELATED [ChEBI] xref: CAS:10124-36-4 {source="ChemIDplus"} xref: CAS:10124-36-4 {source="NIST Chemistry WebBook"} xref: Gmelin:8295 {source="Gmelin"} xref: MeSH:C037123 xref: NCIt:C45895 xref: Wikipedia:Cadmium_sulfate is_a: CHEBI:22978 ! cadmium molecular entity is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "CdO4S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/Cd.H2O4S/c;1-5(2,3)4/h;(H2,1,2,3,4)/q+2;/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QCUOBSQYDGUHHT-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "208.47460" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "209.85510" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Cd++].[O-]S([O-])(=O)=O" xsd:string [Term] id: CHEBI:50295 name: 1,9-dideoxyforskolin namespace: chebi_ontology def: "A labdane diterpenoid that is the 1,9-dideoxy derivative of forskolin." [] subset: 3_STAR synonym: "(3R,4aS,5S,6S,6aS,10aS,10bR)-3-ethenyl-6-hydroxy-3,4a,7,7,10a-pentamethyl-1-oxododecahydro-1H-benzo[f]chromen-5-yl acetate" EXACT IUPAC_NAME [IUPAC] synonym: "(3R,4aS,5S,6S,6aS,10aS,10bR)-5-(acetyloxy)-3-ethenyldodecahydro-6-hydroxy-3,4a,7,7,10a-pentamethyl-1H-naphtho(2,1-b)pyran-1-one" RELATED [ChemIDplus] synonym: "(3R-(3alpha,4abeta,5beta,6beta,6aalpha,10abeta,10balpha))-5-(acetyloxy)-3-ethenyldodecahydro-6-hydroxy-3,4a,7,7,10a-pentamethyl-1H-naphtho(2,1-b)pyran-1-one" RELATED [ChemIDplus] synonym: "7beta-acetoxy-8,13-epoxy-6beta-hydroxylabd-14-en-11-one" RELATED [ChEBI] xref: Beilstein:5304980 {source="Beilstein"} xref: CAS:64657-18-7 {source="ChemIDplus"} xref: LIPID_MAPS_instance:LMPR0104030009 {source="LIPID MAPS"} xref: PMID:16749796 {source="Europe PMC"} xref: PMID:19831022 {source="Europe PMC"} xref: Reaxys:5304980 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:24913 ! isoprenoid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H34O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C22H34O5/c1-8-20(5)12-14(24)16-21(6)11-9-10-19(3,4)17(21)15(25)18(26-13(2)23)22(16,7)27-20/h8,15-18,25H,1,9-12H2,2-7H3/t15-,16+,17-,18-,20-,21+,22-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ZKZMDXUDDJYAIB-SUCLLAFCSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "378.50236" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "378.24062" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12[C@H](O)[C@H](OC(C)=O)[C@@]3(C)O[C@](C)(CC(=O)[C@]3([H])[C@@]1(C)CCCC2(C)C)C=C" xsd:string [Term] id: CHEBI:50370 name: parasympatholytic namespace: chebi_ontology def: "Any cholinergic antagonist that inhibits the actions of the parasympathetic nervous system. The major group of drugs used therapeutically for this purpose is the muscarinic antagonists." [] subset: 3_STAR synonym: "parasympatholytics" RELATED [ChEBI] is_a: CHEBI:48873 ! cholinergic antagonist relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:50385 name: hemin namespace: chebi_ontology alt_id: CHEBI:24493 alt_id: CHEBI:5655 def: "It is used as a prescription medication to relieve repeated attacks of acute intermittent porphyria related to the menstrual cycle in affected women." [] subset: 3_STAR synonym: "chlorido(protoporphyrinato)iron(III)" EXACT IUPAC_NAME [IUPAC] synonym: "chloro(protoporphyrinato)iron(III)" RELATED [JCBN] synonym: "chloro[3,7,12,17-tetramethyl-8,13-divinylporphyrin-2,18-dipropanoato(2-)]iron(III)" RELATED [IUPAC] synonym: "chlorohemin" RELATED [ChemIDplus] synonym: "chloroprotoferrihem" RELATED [ChemIDplus] synonym: "ferriprotoporphyrin IX chloride" RELATED [ChEBI] synonym: "Haemin" RELATED [ChEBI] synonym: "Hemin" EXACT [KEGG_COMPOUND] synonym: "hemin" EXACT [ChemIDplus] synonym: "hemin chloride" RELATED [ChEBI] synonym: "hemin IX" RELATED [ChemIDplus] synonym: "Hemine" RELATED [KEGG_COMPOUND] synonym: "hemine" RELATED [IUPAC] synonym: "Panhematin" RELATED BRAND_NAME [DrugBank] synonym: "protohemin" RELATED [JCBN] synonym: "protohemin IX" RELATED [ChemIDplus] xref: Beilstein:1236156 {source="Beilstein"} xref: Beilstein:4648025 {source="Beilstein"} xref: Beilstein:5717757 {source="Beilstein"} xref: Beilstein:953895 {source="Beilstein"} xref: CAS:16009-13-5 {source="ChemIDplus"} xref: DrugBank:DB03404 xref: FooDB:FDB005746 xref: Gmelin:2373175 {source="Gmelin"} xref: HMDB:HMDB0000887 xref: KEGG:C06767 xref: MetaCyc:CPD-11678 xref: PMID:30523204 {source="Europe PMC"} xref: PMID:31102787 {source="Europe PMC"} xref: PMID:33603380 {source="Europe PMC"} xref: PMID:33624637 {source="Europe PMC"} xref: PMID:33761605 {source="Europe PMC"} xref: PMID:33987332 {source="Europe PMC"} xref: Wikipedia:Hemin is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C34H32ClFeN4O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C34H34N4O4.ClH.Fe/c1-7-21-17(3)25-13-26-19(5)23(9-11-33(39)40)31(37-26)16-32-24(10-12-34(41)42)20(6)28(38-32)15-30-22(8-2)18(4)27(36-30)14-29(21)35-25;;/h7-8,13-16H,1-2,9-12H2,3-6H3,(H4,35,36,37,38,39,40,41,42);1H;/q;;+3/p-3/b25-13-,26-13-,27-14-,28-15-,29-14-,30-15-,31-16-,32-16-;;" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BTIJJDXEELBZFS-HXFTUNQESA-K" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "651.94014" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "651.14614" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC1=C(CCC(O)=O)C2=[N]3C1=Cc1c(C)c(C=C)c4C=C5C(C)=C(C=C)C6=[N]5[Fe]3(Cl)(n14)n1c(=C6)c(C)c(CCC(O)=O)c1=C2" xsd:string [Term] id: CHEBI:50469 name: EC 3.1.1.4 (phospholipase A2) inhibitor namespace: chebi_ontology def: "An EC 3.1.1.* (carboxylic ester hydrolase) inhibitor that interferes with the action of phospholipase A2 (EC 3.1.1.4)." [] subset: 3_STAR synonym: "EC 3.1.1.4 (phospholipase A2) inhibitors" RELATED [ChEBI] synonym: "EC 3.1.1.4 inhibitor" RELATED [ChEBI] synonym: "EC 3.1.1.4 inhibitors" RELATED [ChEBI] synonym: "lecithinase A inhibitor" RELATED [ChEBI] synonym: "lecithinase A inhibitors" RELATED [ChEBI] synonym: "phosphatidase inhibitor" RELATED [ChEBI] synonym: "phosphatidase inhibitors" RELATED [ChEBI] synonym: "phosphatidolipase inhibitor" RELATED [ChEBI] synonym: "phosphatidolipase inhibitors" RELATED [ChEBI] synonym: "phosphatidylcholine 2-acylhydrolase inhibitor" RELATED [ChEBI] synonym: "phosphatidylcholine 2-acylhydrolase inhibitors" RELATED [ChEBI] synonym: "phospholipase A inhibitor" RELATED [ChEBI] synonym: "phospholipase A inhibitors" RELATED [ChEBI] synonym: "phospholipase A2 (EC 3.1.1.4) inhibitor" RELATED [ChEBI] synonym: "phospholipase A2 (EC 3.1.1.4) inhibitors" RELATED [ChEBI] synonym: "phospholipase A2 inhibitor" RELATED [ChEBI] synonym: "phospholipase A2 inhibitors" RELATED [ChEBI] xref: MeSH:D064801 is_a: CHEBI:23924 ! enzyme inhibitor relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:50498 name: vaccenate(1-) namespace: chebi_ontology def: "An unsaturated long-chain fatty acid anion and the conjugate base of vaccenic acid, arising from deprotonation of the carboxylic acid group." [] subset: 3_STAR synonym: "11-octadecenoate" RELATED [ChEBI] synonym: "octadec-11-enoate" EXACT IUPAC_NAME [IUPAC] synonym: "vaccenate" RELATED [ChEBI] is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H33O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H34O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-18(19)20/h7-8H,2-6,9-17H2,1H3,(H,19,20)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UWHZIFQPPBDJPM-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "281.45342" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "281.24860" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H]C(CCCCCC)=C([H])CCCCCCCCCC([O-])=O" xsd:string [Term] id: CHEBI:50504 name: osmotic diuretic namespace: chebi_ontology def: "Compound that increase urine volume by increasing the amount of osmotically active solute in the urine. It also increases the osmolarity of plasma." [] subset: 3_STAR xref: NCIt:C49187 xref: SNOMEDCT:372792005 xref: SNOMEDCT:59799001 is_a: CHEBI:23888 ! drug is_a: EFO:0001899 ! drug role [Term] id: CHEBI:50505 name: sweetening agent namespace: chebi_ontology def: "Substance that sweeten food, beverages, medications, etc." [] subset: 3_STAR synonym: "sweetener" RELATED [ChEBI] synonym: "sweeteners" RELATED [ChEBI] is_a: CHEBI:24432 ! biological role is_a: CHEBI:33232 ! application is_a: CHEBI:51086 ! chemical role relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:50514 name: vasoconstrictor agent namespace: chebi_ontology def: "Drug used to cause constriction of the blood vessels." [] subset: 3_STAR is_a: CHEBI:35554 ! cardiovascular drug [Term] id: CHEBI:50527 name: arsenic oxide namespace: chebi_ontology subset: 3_STAR synonym: "arsenic oxides" RELATED [ChEBI] is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:50629 name: cyclooxygenase 2 inhibitor namespace: chebi_ontology def: "A cyclooxygenase inhibitor that interferes with the action of cyclooxygenase 2." [] subset: 3_STAR synonym: "COX-2 inhibitor" RELATED [ChEBI] synonym: "COX-2 inhibitors" RELATED [ChEBI] synonym: "cyclo-oxygenase 2 inhibitor" RELATED [ChEBI] synonym: "cyclo-oxygenase 2 inhibitors" RELATED [ChEBI] synonym: "cyclo-oxygenase-2 inhibitor" RELATED [ChEBI] synonym: "cyclo-oxygenase-2 inhibitors" RELATED [ChEBI] synonym: "cyclooxygenase 2 inhibitors" RELATED [ChEBI] synonym: "cyclooxygenase-2 inhibitor" RELATED [ChEBI] synonym: "cyclooxygenase-2 inhibitors" RELATED [ChEBI] synonym: "PGHS-2 inhibitor" RELATED [ChEBI] synonym: "PGHS-2 inhibitors" RELATED [ChEBI] synonym: "prostaglandin H synthase-2 inhibitor" RELATED [ChEBI] synonym: "prostaglandin H synthase-2 inhibitors" RELATED [ChEBI] synonym: "prostaglandin-endoperoxide synthase 2 inhibitor" RELATED [ChEBI] synonym: "prostaglandin-endoperoxide synthase 2 inhibitors" RELATED [ChEBI] xref: NCIt:C80509 xref: SNOMEDCT:123954005 xref: SNOMEDCT:387050005 xref: Wikipedia:Prostaglandin-endoperoxide_synthase_2 is_a: CHEBI:35544 ! EC 1.14.99.1 (prostaglandin-endoperoxide synthase) inhibitor [Term] id: CHEBI:50630 name: cyclooxygenase 1 inhibitor namespace: chebi_ontology def: "A cyclooxygenase inhibitor that interferes with the action of cyclooxygenase 1." [] subset: 3_STAR synonym: "COX-1 inhibitor" RELATED [ChEBI] synonym: "COX-1 inhibitors" RELATED [ChEBI] synonym: "cyclo-oxygenase 1 inhibitor" RELATED [ChEBI] synonym: "cyclo-oxygenase 1 inhibitors" RELATED [ChEBI] synonym: "cyclooxygenase 1 inhibitors" RELATED [ChEBI] synonym: "cyclooxygenase-1 inhibitor" RELATED [ChEBI] synonym: "cyclooxygenase-1 inhibitors" RELATED [ChEBI] synonym: "prostaglandin G/H synthase 1 inhibitor" RELATED [ChEBI] synonym: "prostaglandin G/H synthase 1 inhibitors" RELATED [ChEBI] synonym: "prostaglandin H2 synthase 1 inhibitor" RELATED [ChEBI] synonym: "prostaglandin H2 synthase 1 inhibitors" RELATED [ChEBI] synonym: "prostaglandin-endoperoxide synthase 1 inhibitor" RELATED [ChEBI] synonym: "prostaglandin-endoperoxide synthase 1 inhibitors" RELATED [ChEBI] synonym: "PTGS1 inhibitor" RELATED [ChEBI] synonym: "PTGS1 inhibitors" RELATED [ChEBI] xref: Wikipedia:PTGS1 is_a: CHEBI:35544 ! EC 1.14.99.1 (prostaglandin-endoperoxide synthase) inhibitor [Term] id: CHEBI:50646 name: bone density conservation agent namespace: chebi_ontology alt_id: CHEBI:72497 def: "An agent that inhibits bone resorption and/or favor bone mineralization and bone regeneration. Used to heal bone fractures and to treat bone diseases such as osteopenia and osteoporosis." [] subset: 3_STAR synonym: "anti-osteopenia agent" RELATED [ChEBI] synonym: "anti-osteopenia agents" RELATED [ChEBI] synonym: "anti-osteopenia drug" RELATED [ChEBI] synonym: "anti-osteopenia drugs" RELATED [ChEBI] synonym: "anti-osteoporosis agent" RELATED [ChEBI] synonym: "anti-osteoporosis agents" RELATED [ChEBI] synonym: "anti-osteoporosis drug" RELATED [ChEBI] synonym: "anti-osteoporosis drugs" RELATED [ChEBI] synonym: "anti-osteoporotic" RELATED [ChEBI] synonym: "anti-osteoporotic agent" RELATED [ChEBI] synonym: "anti-osteoporotic agents" RELATED [ChEBI] synonym: "anti-osteoporotic drug" RELATED [ChEBI] synonym: "anti-osteoporotic drugs" RELATED [ChEBI] synonym: "anti-osteoporotics" RELATED [ChEBI] synonym: "antiosteoporotic" RELATED [ChEBI] synonym: "antiosteoporotics" RELATED [ChEBI] synonym: "bone density conservation agents" RELATED [ChEBI] synonym: "bone density conservation drug" RELATED [ChEBI] synonym: "bone density conservation drugs" RELATED [ChEBI] xref: Wikipedia:Osteoporosis is_a: CHEBI:23888 ! drug is_a: EFO:0001899 ! drug role relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:50648 name: 9-cis-retinoic acid namespace: chebi_ontology alt_id: CHEBI:63793 def: "A retinoic acid in which the exocyclic double bonds have 7E,9Z,11E,13E geometry." [] subset: 3_STAR synonym: "(2E,4E,6Z,8E)-3,7-dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid" RELATED [IUPAC] synonym: "(7E,9Z,11E,13E)-retinoic acid" RELATED [ChEBI] synonym: "(9cis)-retinoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "9(Z)-Retinoic acid" RELATED [ChemIDplus] synonym: "9-cis-Tretinoin" RELATED [ChemIDplus] synonym: "Alitretinoin" RELATED [KEGG_DRUG] synonym: "alitretinoina" RELATED INN [ChEBI] synonym: "alitretinoine" RELATED INN [ChEBI] synonym: "alitretinoinum" RELATED INN [ChEBI] synonym: "Panretin" RELATED BRAND_NAME [DrugBank] xref: CAS:5300-03-8 {source="KEGG COMPOUND"} xref: CAS:5300-03-8 {source="ChemIDplus"} xref: ChEMBL:133216 xref: ChemIDplus:5300-03-8 xref: CiteXplore:10684759 xref: CiteXplore:11978340 xref: CiteXplore:12611604 xref: CiteXplore:12882648 xref: CiteXplore:15217968 xref: CiteXplore:15292987 xref: CiteXplore:15519497 xref: CiteXplore:16144296 xref: CiteXplore:17019405 xref: CiteXplore:18400206 xref: CiteXplore:18404486 xref: CiteXplore:19678713 xref: CiteXplore:7670094 xref: Drug_Central:3862 {source="DrugCentral"} xref: DrugBank:DB00523 xref: HMDB:HMDB0002369 xref: HMDB:HMDB02369 xref: KEGG COMPOUND:C15493 xref: KEGG DRUG:D02815 xref: KEGG:C15493 xref: KEGG:D02815 xref: LIPID_MAPS_instance:LMPR01090022 {source="LIPID MAPS"} xref: MeSH:C103303 xref: NCIt:C1574 xref: PMID:10684759 {source="Europe PMC"} xref: PMID:11978340 {source="Europe PMC"} xref: PMID:12611604 {source="Europe PMC"} xref: PMID:12882648 {source="Europe PMC"} xref: PMID:15217968 {source="Europe PMC"} xref: PMID:15292987 {source="Europe PMC"} xref: PMID:15519497 {source="Europe PMC"} xref: PMID:16144296 {source="Europe PMC"} xref: PMID:17019405 {source="Europe PMC"} xref: PMID:18400206 {source="Europe PMC"} xref: PMID:18404486 {source="Europe PMC"} xref: PMID:19678713 {source="Europe PMC"} xref: PMID:7670094 {source="Europe PMC"} xref: Reaxys:2057222 {source="Reaxys"} xref: SNOMEDCT:116086005 xref: SNOMEDCT:409488005 xref: Wikipedia:Alitretinoin is_a: CHEBI:26536 ! retinoic acid relationship: has_role CHEBI:35610 ! antineoplastic agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H28O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H28O2/c1-15(8-6-9-16(2)14-19(21)22)11-12-18-17(3)10-7-13-20(18,4)5/h6,8-9,11-12,14H,7,10,13H2,1-5H3,(H,21,22)/b9-6+,12-11+,15-8-,16-14+" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SHGAZHPCJJPHSC-ZVCIMWCZSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "300.43512" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "300.20893" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(\\C=C\\C1=C(C)CCCC1(C)C)=C\\C=C\\C(C)=C\\C(O)=O" xsd:string [Term] id: CHEBI:50667 name: mercaptopurine namespace: chebi_ontology def: "A member of the class of purines that is 6,7-dihydro-1H-purine carrying a thione group at position 6. An adenine analogue, it is used in the treatment of acute lymphocytic leukemia (ALL), chronic myeloid leukemia (CML), Crohn's disease, and ulcerative colitis." [] subset: 3_STAR synonym: "1,7-dihydro-6H-purine-6-thione" EXACT IUPAC_NAME [IUPAC] synonym: "6 MP" RELATED [ChemIDplus] synonym: "6-Mercaptopurine" RELATED [ChemIDplus] synonym: "6-MP" RELATED [ChemIDplus] synonym: "6-Thiohypoxanthine" RELATED [ChemIDplus] synonym: "6-Thioxopurine" RELATED [ChemIDplus] synonym: "Mercaptopurina" RELATED INN [ChemIDplus] synonym: "Mercaptopurine" EXACT [KEGG_COMPOUND] synonym: "mercaptopurine" EXACT [UniProt] synonym: "mercaptopurine" RELATED INN [ChEBI] synonym: "mercaptopurinum" RELATED INN [ChemIDplus] synonym: "Mercapurin" RELATED [DrugBank] synonym: "Puri-Nethol" RELATED BRAND_NAME [DrugBank] synonym: "Purinethol" RELATED BRAND_NAME [DrugBank] xref: Beilstein:132916 {source="Beilstein"} xref: CAS:50-44-2 {source="KEGG COMPOUND"} xref: CAS:50-44-2 {source="ChemIDplus"} xref: DrugBank:DB01033 xref: KEGG:C02380 xref: KEGG:D04931 xref: Patent:US2697709 xref: Patent:US2721866 xref: PDBeChem:PM6 xref: PMID:16267626 {source="Europe PMC"} xref: PMID:28011186 {source="Europe PMC"} xref: PMID:28166217 {source="Europe PMC"} xref: PMID:28212467 {source="Europe PMC"} xref: PMID:28295989 {source="Europe PMC"} xref: PMID:28301625 {source="Europe PMC"} xref: PMID:28406092 {source="Europe PMC"} xref: PMID:28418010 {source="Europe PMC"} xref: PMID:28484608 {source="Europe PMC"} xref: PMID:28574837 {source="Europe PMC"} xref: Reaxys:132916 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H4N4S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H4N4S/c10-5-3-4(7-1-6-3)8-2-9-5/h1-2H,(H2,6,7,8,9,10)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GLVAUDGFNGKCSF-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "152.17822" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "152.01567" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "S=c1[nH]cnc2nc[nH]c12" xsd:string [Term] id: CHEBI:50673 name: methimazole namespace: chebi_ontology alt_id: CHEBI:44168 alt_id: CHEBI:6828 def: "A member of the class of imidazoles that it imidazole-2-thione in which a methyl group replaces the hydrogen which is attached to a nitrogen." [] subset: 3_STAR synonym: "1-METHYL-1,3-DIHYDRO-2H-IMIDAZOLE-2-THIONE" RELATED [PDBeChem] synonym: "1-methyl-1,3-dihydro-2H-imidazole-2-thione" EXACT IUPAC_NAME [IUPAC] synonym: "1-Methylimidazole-2(3H)-thione" RELATED [ChemIDplus] synonym: "Danantizol" RELATED BRAND_NAME [DrugBank] synonym: "Favistan" RELATED BRAND_NAME [DrugBank] synonym: "Methimazole" EXACT [KEGG_COMPOUND] synonym: "Strumazol" RELATED BRAND_NAME [DrugBank] synonym: "Tapazole" RELATED BRAND_NAME [DrugBank] synonym: "Thacapzol" RELATED BRAND_NAME [DrugBank] synonym: "thiamazol" RELATED INN [ChemIDplus] synonym: "thiamazole" RELATED INN [KEGG_DRUG] synonym: "thiamazolum" RELATED INN [ChemIDplus] synonym: "tiamazol" RELATED INN [ChemIDplus] synonym: "USAF el-30" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:108646 {source="Beilstein"} xref: CAS:60-56-0 {source="NIST Chemistry WebBook"} xref: CAS:60-56-0 {source="ChemIDplus"} xref: Drug_Central:1745 {source="DrugCentral"} xref: DrugBank:DB00763 xref: HMDB:HMDB0014901 xref: KEGG:D00401 xref: LINCS:LSM-5646 xref: MetaCyc:CPD-11282 xref: PDBeChem:MMZ xref: PMID:17438883 {source="Europe PMC"} xref: PMID:24443787 {source="Europe PMC"} xref: PMID:7454742 {source="Europe PMC"} xref: PMID:9172960 {source="Europe PMC"} xref: Reaxys:108646 {source="Reaxys"} xref: VSDB:1825 xref: Wikipedia:Methimazole is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H6N2S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H6N2S/c1-6-3-2-5-4(6)7/h2-3H,1H3,(H,5,7)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PMRYVIKBURPHAH-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "114.16900" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "114.02517" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cn1cc[nH]c1=S" xsd:string [Term] id: CHEBI:50683 name: EC 1.5.1.3 (dihydrofolate reductase) inhibitor namespace: chebi_ontology def: "An EC 1.5.1.* (oxidoreductase acting on donor CH-NH group, NAD(+) or NADP(+) as acceptor) inhibitor that interferes with the action of dihydrofolate reductase (EC 1.5.1.3)." [] subset: 3_STAR synonym: "7,8-dihydrofolate reductase inhibitor" RELATED [ChEBI] synonym: "7,8-dihydrofolate reductase inhibitors" RELATED [ChEBI] synonym: "DHFR inhibitor" RELATED [ChEBI] synonym: "DHFR inhibitors" RELATED [ChEBI] synonym: "dihydrofolate reductase (EC 1.5.1.3) inhibitor" RELATED [ChEBI] synonym: "dihydrofolate reductase (EC 1.5.1.3) inhibitors" RELATED [ChEBI] synonym: "dihydrofolate reductase inhibitor" RELATED [ChEBI] synonym: "dihydrofolate reductase inhibitors" RELATED [ChEBI] synonym: "dihydrofolic acid reductase inhibitor" RELATED [ChEBI] synonym: "dihydrofolic acid reductase inhibitors" RELATED [ChEBI] synonym: "dihydrofolic reductase inhibitor" RELATED [ChEBI] synonym: "dihydrofolic reductase inhibitors" RELATED [ChEBI] synonym: "EC 1.5.1.3 (dihydrofolate reductase) inhibitors" RELATED [ChEBI] synonym: "EC 1.5.1.3 inhibitor" RELATED [ChEBI] synonym: "EC 1.5.1.3 inhibitors" RELATED [ChEBI] synonym: "folic acid reductase inhibitor" RELATED [ChEBI] synonym: "folic acid reductase inhibitors" RELATED [ChEBI] synonym: "folic reductase inhibitor" RELATED [ChEBI] synonym: "folic reductase inhibitors" RELATED [ChEBI] synonym: "NADPH-dihydrofolate reductase inhibitor" RELATED [ChEBI] synonym: "NADPH-dihydrofolate reductase inhibitors" RELATED [ChEBI] synonym: "tetrahydrofolate dehydrogenase inhibitor" RELATED [ChEBI] synonym: "tetrahydrofolate dehydrogenase inhibitors" RELATED [ChEBI] xref: Wikipedia:Dihydrofolate_reductase_inhibitor is_a: CHEBI:23924 ! enzyme inhibitor is_a: CHEBI:35221 ! antimetabolite relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:50694 name: minocycline namespace: chebi_ontology alt_id: CHEBI:44053 alt_id: CHEBI:6939 def: "A tetracycline analogue having a dimethylamino group at position 7 and lacking the methyl and hydroxy groups at position 5." [] subset: 3_STAR synonym: "(4S,4AS,5AR,12AS)-4,7-BIS(DIMETHYLAMINO)-3,10,12,12A-TETRAHYDROXY-1,11-DIOXO-1,4,4A,5,5A,6,11,12A-OCTAHYDROTETRACENE-2-CARBOXAMIDE" RELATED [PDBeChem] synonym: "(4S,4aS,5aR,12aS)-4,7-bis(dimethylamino)-3,10,12,12a-tetrahydroxy-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide" EXACT IUPAC_NAME [IUPAC] synonym: "7-Dimethylamino-6-demethyl-6-deoxytetracycline" RELATED [ChemIDplus] synonym: "minociclina" RELATED INN [DrugBank] synonym: "minociclinum" RELATED INN [DrugBank] synonym: "Minocycline" EXACT [KEGG_COMPOUND] synonym: "minocycline" RELATED INN [ChemIDplus] synonym: "minomycin" RELATED [ChEBI] xref: Beilstein:3077644 {source="Beilstein"} xref: CAS:10118-90-8 {source="ChemIDplus"} xref: CAS:10118-90-8 {source="KEGG COMPOUND"} xref: Chemspider:16735907 xref: Drug_Central:1813 {source="DrugCentral"} xref: DrugBank:DB01017 xref: HMDB:HMDB0015152 xref: KEGG:C07225 xref: KEGG:D05045 xref: KNApSAcK:C00018686 xref: LIPID_MAPS_instance:LMPK07000002 {source="LIPID MAPS"} xref: Patent:US3226436 xref: Patent:WO2008104734 xref: PDBeChem:MIY xref: PMID:22330257 {source="Europe PMC"} xref: PMID:28709717 {source="Europe PMC"} xref: PMID:31630007 {source="Europe PMC"} xref: PMID:31719236 {source="Europe PMC"} xref: PMID:31733348 {source="Europe PMC"} xref: PMID:33568043 {source="Europe PMC"} xref: PMID:34232283 {source="Europe PMC"} xref: PMID:34636517 {source="Europe PMC"} xref: Reaxys:3077644 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C23H27N3O7" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C23H27N3O7/c1-25(2)12-5-6-13(27)15-10(12)7-9-8-11-17(26(3)4)19(29)16(22(24)32)21(31)23(11,33)20(30)14(9)18(15)28/h5-6,9,11,17,27,29-30,33H,7-8H2,1-4H3,(H2,24,32)/t9-,11-,17-,23-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DYKFCLLONBREIL-KVUCHLLUSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "457.47650" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "457.18490" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12Cc3c(ccc(O)c3C(=O)C1=C(O)[C@]1(O)C(=O)C(C(N)=O)=C(O)[C@@H](N(C)C)[C@]1([H])C2)N(C)C" xsd:string [Term] id: CHEBI:50733 name: nutraceutical namespace: chebi_ontology def: "A product in capsule, tablet or liquid form that provide essential nutrients, such as a vitamin, an essential mineral, a protein, an herb, or similar nutritional substance." [] subset: 3_STAR synonym: "Dietary Supplement" RELATED [ChEBI] synonym: "Food Supplementation" RELATED [ChEBI] synonym: "Nutritional supplement" RELATED [ChEBI] xref: NCIt:C1954 xref: SNOMEDCT:108961000 xref: SNOMEDCT:373453009 is_a: CHEBI:23888 ! drug is_a: EFO:0001899 ! drug role [Term] id: CHEBI:50739 name: estrogen receptor modulator namespace: chebi_ontology def: "A substance that possess antiestrogenic actions but can also produce estrogenic effects as well. It acts as complete or partial agonist or as antagonist. It can be either steroidal or nonsteroidal in structure." [] subset: 3_STAR is_a: CHEBI:23888 ! drug is_a: EFO:0001899 ! drug role [Term] id: CHEBI:50750 name: EC 5.99.1.3 [DNA topoisomerase (ATP-hydrolysing)] inhibitor namespace: chebi_ontology alt_id: CHEBI:132229 alt_id: CHEBI:50234 def: "A topoisomerase inhibitor that inhibits DNA topoisomerase (ATP-hydrolysing), EC 5.99.1.3 (also known as topoisomerase II and as DNA gyrase), which catalyses ATP-dependent breakage of both strands of DNA, passage of the unbroken strands through the breaks, and rejoining of the broken strands." [] subset: 3_STAR synonym: "DNA gyrase inhibitor" RELATED [ChEBI] synonym: "DNA gyrase inhibitors" RELATED [ChEBI] synonym: "DNA topoisomerase (ATP-hydrolysing) (EC 5.99.1.3) inhibitor" RELATED [ChEBI] synonym: "DNA topoisomerase (ATP-hydrolysing) (EC 5.99.1.3) inhibitors" RELATED [ChEBI] synonym: "DNA topoisomerase (ATP-hydrolysing) inhibitor" RELATED [ChEBI] synonym: "DNA topoisomerase (ATP-hydrolysing) inhibitors" RELATED [ChEBI] synonym: "DNA topoisomerase II inhibitor" RELATED [ChEBI] synonym: "DNA topoisomerase II inhibitors" RELATED [ChEBI] synonym: "EC 5.99.1.3 (DNA topoisomerase (ATP-hydrolysing)) inhibitor" RELATED [ChEBI] synonym: "EC 5.99.1.3 (DNA topoisomerase (ATP-hydrolysing)) inhibitors" RELATED [ChEBI] synonym: "EC 5.99.1.3 [DNA topoisomerase (ATP-hydrolysing)] inhibitors" RELATED [ChEBI] synonym: "EC 5.99.1.3 inhibitor" RELATED [ChEBI] synonym: "EC 5.99.1.3 inhibitors" RELATED [ChEBI] synonym: "inhibitor of type II topoisomerase" RELATED [ChEBI] synonym: "inhibitors of type II topoisomerase" RELATED [ChEBI] synonym: "topoisomerase II inhibitor" RELATED [ChEBI] synonym: "topoisomerase II inhibitors" RELATED [ChEBI] synonym: "topoisomerase-II inhibitor" RELATED [ChEBI] synonym: "topoisomerase-II inhibitors" RELATED [ChEBI] synonym: "type II DNA topoisomerase inhibitor" RELATED [ChEBI] synonym: "type II DNA topoisomerase inhibitors" RELATED [ChEBI] is_a: CHEBI:23924 ! enzyme inhibitor [Term] id: CHEBI:50790 name: EC 1.14.14.14 (aromatase) inhibitor namespace: chebi_ontology def: "An EC 1.14.14.* (oxidoreductase acting on paired donors, incorporating of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor) inhibitor which interferes with the action of aromatase (EC 1.14.14.14) and so reduces production of estrogenic steroid hormones." [] subset: 3_STAR synonym: "aromatase (EC 1.14.14.14) inhibitor" RELATED [ChEBI] synonym: "aromatase (EC 1.14.14.14) inhibitors" RELATED [ChEBI] synonym: "aromatase inhibitor" RELATED [ChEBI] synonym: "aromatase inhibitors" RELATED [ChEBI] synonym: "EC 1.14.14.14 (aromatase) inhibitors" RELATED [ChEBI] synonym: "EC 1.14.14.14 inhibitor" RELATED [ChEBI] synonym: "EC 1.14.14.14 inhibitors" RELATED [ChEBI] synonym: "estrogen synthase inhibitor" RELATED [ChEBI] synonym: "estrogen synthase inhibitors" RELATED [ChEBI] synonym: "estrogen synthetase inhibitor" RELATED [ChEBI] synonym: "estrogen synthetase inhibitors" RELATED [ChEBI] synonym: "oestrogen synthase inhibitor" RELATED [ChEBI] synonym: "oestrogen synthase inhibitors" RELATED [ChEBI] synonym: "oestrogen synthetase inhibitor" RELATED [ChEBI] synonym: "oestrogen synthetase inhibitors" RELATED [ChEBI] xref: Wikipedia:Aromatase_inhibitor is_a: CHEBI:23924 ! enzyme inhibitor [Term] id: CHEBI:50792 name: estrogen receptor antagonist namespace: chebi_ontology def: "An antagonist at the estrogen receptor." [] subset: 3_STAR synonym: "estrogen receptor antagonists" RELATED [ChEBI] xref: MeSH:D065171 is_a: CHEBI:23888 ! drug is_a: CHEBI:24432 ! biological role is_a: CHEBI:51086 ! chemical role relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:50842 name: norflurazon namespace: chebi_ontology def: "A pyridazinone that is pyridazin-3(2H)-one which is substituted at positions 2, 4, and 5 by m-(trifluoromethyl)phenyl, chloro, and methylamino groups, respectively. A pre-emergence herbicide used to control grasses and broad-leafed weeds in a variety of crops. Not approved for use within the European Union." [] subset: 3_STAR synonym: "4-chloro-5-(methylamino)-2-(alpha,alpha,alpha-trifluoro-m-tolyl)-3(2H)-pyridazinone" RELATED [NIST_Chemistry_WebBook] synonym: "4-chloro-5-(methylamino)-2-[3-(trifluoromethyl)phenyl]-3(2H)-pyridazinone" RELATED [NIST_Chemistry_WebBook] synonym: "4-chloro-5-(methylamino)-2-[3-(trifluoromethyl)phenyl]pyridazin-3(2H)-one" EXACT IUPAC_NAME [IUPAC] synonym: "SAN 9789" RELATED [ChemIDplus] synonym: "Solicam" RELATED BRAND_NAME [ChemIDplus] synonym: "Zorial" RELATED BRAND_NAME [ChemIDplus] xref: Beilstein:757115 {source="Beilstein"} xref: CAS:27314-13-2 {source="ChemIDplus"} xref: CAS:27314-13-2 {source="NIST Chemistry WebBook"} xref: CAS:27314-13-2 {source="Alan Wood's Pesticides"} xref: CAS:27314-13-2 {source="KEGG COMPOUND"} xref: KEGG:C18874 xref: Patent:BE712832 xref: Patent:US3644355 xref: PDBeChem:NRF xref: Pesticides:norflurazon {source="Alan Wood's Pesticides"} xref: PMID:16659463 {source="Europe PMC"} xref: PMID:24936791 {source="Europe PMC"} xref: PMID:26735720 {source="Europe PMC"} xref: PPDB:486 is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:33286 ! agrochemical property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12H9ClF3N3O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C12H9ClF3N3O/c1-17-9-6-18-19(11(20)10(9)13)8-4-2-3-7(5-8)12(14,15)16/h2-6,17H,1H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NVGOPFQZYCNLDU-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "303.668" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "303.03862" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(C1=CC(=CC=C1)N2C(C(=C(C=N2)NC)Cl)=O)(F)(F)F" xsd:string [Term] id: CHEBI:50845 name: doxycycline namespace: chebi_ontology alt_id: CHEBI:42135 alt_id: CHEBI:4713 def: "Tetracycline in which the 5beta-hydrogen is replaced by a hydroxy group, while the 6alpha-hydroxy group is replaced by hydrogen. A semi-synthetic tetracycline antibiotic, it is used to inhibit bacterial protein synthesis and treat non-gonococcal urethritis and cervicitis, exacerbations of bronchitis in patients with chronic obstructive pulmonary disease (COPD), and adult periodontitis." [] subset: 3_STAR synonym: "(4S,4AR,5S,5AR,6R,12AS)-4-(DIMETHYLAMINO)-3,5,10,12,12A-PENTAHYDROXY-6-METHYL-1,11-DIOXO-1,4,4A,5,5A,6,11,12A-OCTAHYDROTETRACENE-2-CARBOXAMIDE" RELATED [PDBeChem] synonym: "(4S,4aR,5S,5aR,6R,12aS)-4-(dimethylamino)-3,5,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide" EXACT IUPAC_NAME [IUPAC] synonym: "5-hydroxy-alpha-6-deoxytetracycline" RELATED [ChemIDplus] synonym: "6alpha-deoxy-5-oxytetracycline" RELATED [ChemIDplus] synonym: "doxiciclina" RELATED INN [ChemIDplus] synonym: "Doxycyclin" RELATED [ChEBI] synonym: "Doxycycline" EXACT [KEGG_COMPOUND] synonym: "doxycycline" RELATED INN [KEGG_DRUG] synonym: "doxycycline (anhydrous)" RELATED [ChemIDplus] synonym: "doxycyclinum" RELATED INN [ChemIDplus] synonym: "Jenacyclin" RELATED BRAND_NAME [DrugBank] synonym: "Supracyclin" RELATED BRAND_NAME [DrugBank] synonym: "Vibramycin" RELATED BRAND_NAME [DrugBank] xref: Beilstein:3041790 {source="Beilstein"} xref: CAS:564-25-0 {source="KEGG COMPOUND"} xref: CAS:564-25-0 {source="ChemIDplus"} xref: Chemspider:10469369 xref: Drug_Central:961 {source="DrugCentral"} xref: DrugBank:DB00254 xref: HMDB:HMDB0014399 xref: KEGG:C06973 xref: KEGG:D07876 xref: KNApSAcK:C00017127 xref: LIPID_MAPS_instance:LMPK07000001 {source="LIPID MAPS"} xref: MeSH:D004318 xref: MetaCyc:CPD-19256 xref: NCIt:C457 xref: Patent:US3019260 xref: Patent:US3200149 xref: PDBeChem:DXT xref: PMCID:PMC8464303 {source="Europe PMC"} xref: PMCID:PMC8466018 {source="Europe PMC"} xref: PMID:11477376 {source="Europe PMC"} xref: PMID:11850258 {source="Europe PMC"} xref: PMID:11891205 {source="Europe PMC"} xref: PMID:1650428 {source="Europe PMC"} xref: PMID:16651635 {source="Europe PMC"} xref: PMID:19630297 {source="Europe PMC"} xref: PMID:23698443 {source="Europe PMC"} xref: PMID:24134630 {source="Europe PMC"} xref: PMID:34128838 {source="Europe PMC"} xref: PMID:34228348 {source="Europe PMC"} xref: PMID:34318509 {source="Europe PMC"} xref: PMID:34338231 {source="Europe PMC"} xref: PMID:34355683 {source="Europe PMC"} xref: PMID:34551605 {source="Europe PMC"} xref: PMID:34577552 {source="Europe PMC"} xref: Reaxys:3041790 {source="Reaxys"} xref: SNOMEDCT:10504007 xref: SNOMEDCT:372478003 xref: VSDB:1840 xref: Wikipedia:Doxycycline is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:33281 ! antimicrobial agent relationship: has_role CHEBI:36047 ! antibacterial drug property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H24N2O8" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C22H24N2O8/c1-7-8-5-4-6-9(25)11(8)16(26)12-10(7)17(27)14-15(24(2)3)18(28)13(21(23)31)20(30)22(14,32)19(12)29/h4-7,10,14-15,17,25,27-29,32H,1-3H3,(H2,23,31)/t7-,10+,14+,15-,17-,22-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JBIWCJUYHHGXTC-AKNGSSGZSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "444.43464" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "444.15327" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12[C@@H](C)c3cccc(O)c3C(=O)C1=C(O)[C@]1(O)C(=O)C(C(N)=O)=C(O)[C@@H](N(C)C)[C@]1([H])[C@H]2O" xsd:string [Term] id: CHEBI:50855 name: antiatherogenic agent namespace: chebi_ontology def: "A cardiovascular drug that prevents atherogenesis, the accumulation of lipid-containing plaques on the innermost layers of the arteries. Compare with antiatherosclerotic agent." [] subset: 3_STAR synonym: "anti-atherogenic agent" RELATED [ChEBI] synonym: "anti-atherogenic agents" RELATED [ChEBI] synonym: "anti-atherogenic drug" RELATED [ChEBI] synonym: "anti-atherogenic drugs" RELATED [ChEBI] synonym: "antiatherogenic agent" EXACT [ChEBI] synonym: "antiatherogenic agents" RELATED [ChEBI] synonym: "antiatherogenic drug" RELATED [ChEBI] synonym: "antiatherogenic drugs" RELATED [ChEBI] xref: PMID:14592471 {source="Europe PMC"} xref: PMID:16366593 {source="Europe PMC"} xref: PMID:17990280 {source="Europe PMC"} xref: PMID:20222342 {source="Europe PMC"} xref: PMID:21074432 {source="Europe PMC"} xref: PMID:21172387 {source="Europe PMC"} xref: PMID:21649483 {source="Europe PMC"} xref: PMID:3288054 {source="Europe PMC"} xref: PMID:9796331 {source="Europe PMC"} is_a: CHEBI:35554 ! cardiovascular drug relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:50862 name: azinomycin B namespace: chebi_ontology subset: 3_STAR synonym: "(1S)-2-{[(1E)-1-[(3R,4R,5S)-3-(acetyloxy)-4-hydroxy-1-azabicyclo[3.1.0]hex-2-ylidene]-2-{[(1Z)-1-(hydroxymethylidene)-2-oxopropyl]amino}-2-oxoethyl]amino}-1-[(2S)-2-methyloxiran-2-yl]-2-oxoethyl 3-methoxy-5-methylnaphthalene-1-carboxylate" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:9537192 {source="Beilstein"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C31H33N3O11" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C31H33N3O11/c1-14-7-6-8-18-19(14)9-17(42-5)10-20(18)30(41)45-27(31(4)13-43-31)29(40)33-23(28(39)32-21(12-35)15(2)36)24-26(44-16(3)37)25(38)22-11-34(22)24/h6-10,12,22,25-27,35,38H,11,13H2,1-5H3,(H,32,39)(H,33,40)/b21-12-,24-23+/t22-,25+,26+,27+,31-,34-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QIKVYJOCQXXRSJ-BHUJXPEISA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "623.60734" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "623.21151" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12C[N@@]1\\C([C@@H](OC(C)=O)[C@@H]2O)=C(\\NC(=O)[C@@H](OC(=O)c1cc(OC)cc2c(C)cccc12)[C@]1(C)CO1)C(=O)N\\C(=C/O)C(C)=O" xsd:string [Term] id: CHEBI:50864 name: insulin-sensitizing drug namespace: chebi_ontology def: "An agent which overcomes insulin resistance by activation of the peroxisome proliferator activated receptor gamma (PPAR-gamma)." [] subset: 3_STAR synonym: "glitazonas" RELATED [ChEBI] synonym: "glitazone drug" RELATED [ChEBI] synonym: "glitazones" RELATED [ChEBI] synonym: "insulin sensitisers" RELATED [ChEBI] synonym: "insulin sensitizers" RELATED [ChEBI] synonym: "insulin-sensitising drug" RELATED [ChEBI] synonym: "insulin-sensitizing agent" RELATED [ChEBI] synonym: "peroxisome proliferator-activated receptor gamma agonist" RELATED [ChEBI] synonym: "peroxisome proliferator-activated receptor gamma agonists" RELATED [ChEBI] synonym: "PPAR-gamma agonist" RELATED [ChEBI] synonym: "PPAR-gamma agonists" RELATED [ChEBI] synonym: "PPARgamma agonist" RELATED [ChEBI] synonym: "PPARgamma agonists" RELATED [ChEBI] synonym: "proliferator activated receptor gamma agonist" RELATED [ChEBI] synonym: "proliferator activated receptor gamma agonists" RELATED [ChEBI] synonym: "thiazolidinediones" RELATED [ChEBI] synonym: "tiazolidinedionas" RELATED [ChEBI] xref: MeSH:D045162 is_a: CHEBI:24432 ! biological role is_a: CHEBI:35526 ! hypoglycemic agent [Term] id: CHEBI:50866 name: 3H-1,2-dithiole-3-thione namespace: chebi_ontology subset: 3_STAR synonym: "1,2-dithiol-3-thione" RELATED [ChemIDplus] synonym: "1,2-dithiole-3-thione" RELATED [ChemIDplus] synonym: "3H-1,2-dithiole-3-thione" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:106380 {source="Beilstein"} xref: CAS:534-25-8 {source="ChemIDplus"} xref: CAS:534-25-8 {source="NIST Chemistry WebBook"} xref: LINCS:LSM-4759 is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H2S3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H2S3/c4-3-1-2-5-6-3/h1-2H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LZENMJMJWQSSNJ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "134.24598" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "133.93186" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "S=c1ccss1" xsd:string [Term] id: CHEBI:50867 name: ciprofibrate namespace: chebi_ontology subset: 3_STAR synonym: "2-[4-(2,2-dichlorocyclopropyl)phenoxy]-2-methylpropanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "ciprofibrate" RELATED INN [WHO_MedNet] synonym: "ciprofibrate" RELATED INN [KEGG_DRUG] synonym: "ciprofibrato" RELATED INN [ChemIDplus] synonym: "ciprofibratum" RELATED INN [ChemIDplus] xref: Beilstein:1984981 {source="ChemIDplus"} xref: CAS:52214-84-3 {source="ChemIDplus"} xref: Drug_Central:658 {source="DrugCentral"} xref: KEGG:D03521 xref: LINCS:LSM-1600 xref: MeSH:C019304 xref: NCIt:C87471 xref: Patent:DE2343606 xref: Patent:US3948973 xref: Reaxys:1984981 {source="Reaxys"} xref: SNOMEDCT:320016006 xref: SNOMEDCT:395957009 xref: Wikipedia:Ciprofibrate is_a: CHEBI:24431 ! chemical entity relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C13H14Cl2O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C13H14Cl2O3/c1-12(2,11(16)17)18-9-5-3-8(4-6-9)10-7-13(10,14)15/h3-6,10H,7H2,1-2H3,(H,16,17)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KPSRODZRAIWAKH-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "289.15386" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "288.03200" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)(Oc1ccc(cc1)C1CC1(Cl)Cl)C(O)=O" xsd:string [Term] id: CHEBI:50885 name: fludrocortisone namespace: chebi_ontology alt_id: CHEBI:46556 alt_id: CHEBI:5101 subset: 3_STAR synonym: "9-fluoro-11beta,17,21-trihydroxypregn-4-ene-3,20-dione" EXACT IUPAC_NAME [IUPAC] synonym: "9ALPHA-FLUOROCORTISOL" RELATED [PDBeChem] synonym: "fludrocortisona" RELATED INN [ChemIDplus] synonym: "Fludrocortisone" EXACT [KEGG_COMPOUND] synonym: "fludrocortisone" RELATED INN [WHO_MedNet] synonym: "fludrocortisone" RELATED INN [ChemIDplus] synonym: "fludrocortisonum" RELATED INN [ChemIDplus] xref: Beilstein:3014278 {source="Beilstein"} xref: CAS:127-31-1 {source="ChemIDplus"} xref: CAS:127-31-1 {source="KEGG COMPOUND"} xref: DrugBank:DB00687 xref: KEGG:C07004 xref: KEGG:D07967 xref: LIPID_MAPS_instance:LMST02030103 {source="LIPID MAPS"} xref: MeSH:D005438 xref: NCIt:C71629 xref: Patent:GB792224 xref: Patent:US2852511 xref: PDBeChem:ZK5 xref: SNOMEDCT:116586002 xref: Wikipedia:Fludrocortisone is_a: CHEBI:26764 ! steroid hormone relationship: has_role EFO:0001824 ! hormone role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C21H29FO5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C21H29FO5/c1-18-7-5-13(24)9-12(18)3-4-15-14-6-8-20(27,17(26)11-23)19(14,2)10-16(25)21(15,18)22/h9,14-16,23,25,27H,3-8,10-11H2,1-2H3/t14-,15-,16-,18-,19-,20-,21-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "AAXVEMMRQDVLJB-BULBTXNYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "380.45036" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "380.19990" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12CC[C@](O)(C(=O)CO)[C@@]1(C)C[C@H](O)[C@@]1(F)[C@@]2([H])CCC2=CC(=O)CC[C@]12C" xsd:string [Term] id: CHEBI:50904 name: allergen namespace: chebi_ontology def: "A chemical compound, or part thereof, which causes the onset of an allergic reaction by interacting with any of the molecular pathways involved in an allergy." [] subset: 3_STAR synonym: "alergeno" RELATED [ChEBI] synonym: "allergene" RELATED [ChEBI] synonym: "allergenic agent" RELATED [ChEBI] xref: NCIt:C62651 xref: SNOMEDCT:277054007 xref: SNOMEDCT:90260006 xref: Wikipedia:Allergen is_a: CHEBI:24432 ! biological role [Term] id: CHEBI:50919 name: antiemetic namespace: chebi_ontology def: "A drug used to prevent nausea or vomiting. An antiemetic may act by a wide range of mechanisms: it might affect the medullary control centres (the vomiting centre and the chemoreceptive trigger zone) or affect the peripheral receptors." [] subset: 3_STAR synonym: "anti-emetic" RELATED [ChEBI] synonym: "anti-emetics" RELATED [ChEBI] synonym: "antiemetico" RELATED [ChEBI] synonym: "antiemetics" RELATED [ChEBI] xref: MeSH:D000932 xref: SNOMEDCT:372764000 xref: SNOMEDCT:52017007 xref: Wikipedia:Antiemetic is_a: CHEBI:23888 ! drug is_a: EFO:0001899 ! drug role [Term] id: CHEBI:5098 name: flucloxacillin namespace: chebi_ontology def: "A penicillin compound having a 6beta-[3-(2-chloro-6-fluorophenyl)-5-methyl-1,2-oxazole-4-carboxamido] side-chain." [] subset: 3_STAR synonym: "(2S,5R,6R)-6-({[3-(2-chloro-6-fluorophenyl)-5-methyl-1,2-oxazol-4-yl]carbonyl}amino)-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylic acid" RELATED [IUPAC] synonym: "3-(2-Chloro-6-fluorophenyl)-5-methyl-4-isoxazolylpenicillin" RELATED [ChemIDplus] synonym: "6beta-[3-(2-chloro-6-fluorophenyl)-5-methyl-1,2-oxazole-4-carboxamido]-2,2-dimethylpenam-3alpha-carboxylic acid" EXACT IUPAC_NAME [IUPAC] synonym: "Floxacillin" RELATED [KEGG_COMPOUND] synonym: "Floxapen" RELATED BRAND_NAME [DrugBank] synonym: "flucloxacilina" RELATED [DrugBank] synonym: "Flucloxacillin" EXACT [KEGG_COMPOUND] synonym: "flucloxacillin" RELATED INN [KEGG_DRUG] synonym: "flucloxacilline" RELATED INN [DrugBank] synonym: "flucloxacillinum" RELATED INN [DrugBank] xref: Beilstein:4771988 {source="Beilstein"} xref: CAS:5250-39-5 {source="ChemIDplus"} xref: CAS:5250-39-5 {source="KEGG COMPOUND"} xref: ChemIDplus:5250-39-5 xref: CiteXplore:12569987 xref: Drug_Central:1183 {source="DrugCentral"} xref: DrugBank:DB00301 xref: KEGG COMPOUND:5250-39-5 xref: KEGG COMPOUND:C11748 xref: KEGG DRUG:D04196 xref: KEGG:C11748 xref: KEGG:D04196 xref: MeSH:D005436 xref: NCIt:C80591 xref: PMID:12569987 {source="Europe PMC"} xref: PMID:15773973 {source="Europe PMC"} xref: PMID:23032409 {source="Europe PMC"} xref: PMID:23542420 {source="Europe PMC"} xref: PMID:25998949 {source="Europe PMC"} xref: PMID:29017833 {source="Europe PMC"} xref: PMID:5481218 {source="Europe PMC"} xref: Reaxys:4771988 {source="Reaxys"} xref: SNOMEDCT:387544009 xref: SNOMEDCT:96067005 xref: Wikipedia:Flucloxacillin is_a: CHEBI:35627 ! beta-lactam relationship: has_role CHEBI:36047 ! antibacterial drug property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H17ClFN3O5S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H17ClFN3O5S/c1-7-10(12(23-29-7)11-8(20)5-4-6-9(11)21)15(25)22-13-16(26)24-14(18(27)28)19(2,3)30-17(13)24/h4-6,13-14,17H,1-3H3,(H,22,25)(H,27,28)/t13-,14+,17-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UIOFUWFRIANQPC-JKIFEVAISA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "453.87200" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "453.05615" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]12SC(C)(C)[C@@H](N1C(=O)[C@H]2NC(=O)c1c(C)onc1-c1c(F)cccc1Cl)C(O)=O" xsd:string [Term] id: CHEBI:51057 name: 3-phenylpropionate namespace: chebi_ontology alt_id: CHEBI:20186 alt_id: CHEBI:20187 def: "A monocarboxylic acid anion that is the conjugate base of 3-phenylpropionic acid, obtained by deprotonation of the carboxy group." [] subset: 3_STAR synonym: "3-phenyl propionate" RELATED [UM-BBD] synonym: "3-phenylpropanoate" EXACT IUPAC_NAME [IUPAC] synonym: "3-phenylpropanoate" RELATED [UniProt] xref: Beilstein:4670367 {source="Beilstein"} xref: Gmelin:328656 {source="Gmelin"} xref: HMDB:HMDB0000764 xref: MetaCyc:3-PHENYLPROPIONATE xref: Reaxys:4670367 {source="Reaxys"} xref: UM-BBD_compID:c0422 {source="UM-BBD"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H9O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H10O2/c10-9(11)7-6-8-4-2-1-3-5-8/h1-5H,6-7H2,(H,10,11)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XMIIGOLPHOKFCH-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "149.16656" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "149.06080" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-]C(=O)CCc1ccccc1" xsd:string [Term] id: CHEBI:51065 name: dopamine agonist namespace: chebi_ontology def: "A drug that binds to and activates dopamine receptors." [] subset: 3_STAR synonym: "Agonista dopaminergico" RELATED [ChEBI] synonym: "Dopamine receptor agonist" RELATED [ChEBI] synonym: "Dopaminergic agonist" RELATED [ChEBI] xref: NCIt:C66884 is_a: CHEBI:23888 ! drug is_a: CHEBI:24432 ! biological role is_a: EFO:0001899 ! drug role [Term] id: CHEBI:51086 name: chemical role namespace: chebi_ontology def: "A role played by the molecular entity or part thereof within a chemical context." [] subset: 3_STAR is_a: BFO:0000023 ! role intersection_of: BFO:0000023 ! role intersection_of: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:5118 name: fluoxetine namespace: chebi_ontology def: "A racemate comprising equimolar amounts of (R)- and (S)-fluoxetine. A selective serotonin reuptake inhibitor (SSRI), it is used (generally as the hydrochloride salt) for the treatment of depression (and the depressive phase of bipolar disorder), bullimia nervosa, and obsessive-compulsive disorder." [] subset: 3_STAR synonym: "(+-)-N-methyl-3-phenyl-3-((alpha,alpha,alpha-trifluoro-p-tolyl)oxy)propylamine" RELATED [ChemIDplus] synonym: "(+-)-N-methyl-gamma-(4-(trifluoromethyl)phenoxy)benzenepropanamine" RELATED [ChemIDplus] synonym: "fluoxetina" RELATED INN [ChemIDplus] synonym: "fluoxetine" RELATED INN [KEGG_DRUG] synonym: "fluoxetine" RELATED INN [WHO_MedNet] synonym: "fluoxetinum" RELATED INN [ChemIDplus] synonym: "Prozac" RELATED BRAND_NAME [DrugBank] synonym: "rac-N-methyl-3-phenyl-3-[4-(trifluoromethyl)phenoxy]propan-1-amine" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:39914106 "Beilstein Registry Number" xref: Beilstein:39914106 {source="Beilstein"} xref: CAS:54910-89-3 {source="ChemIDplus"} xref: CAS:54910-89-3 {source="KEGG DRUG"} xref: ChemIDplus:54910-89-3 "CAS Registry Number" xref: DrugBank:DB00472 "DrugBank" xref: DrugBank:DB00472 xref: HMDB:HMDB0014615 xref: KEGG DRUG:54910-89-3 "CAS Registry Number" xref: KEGG DRUG:D00326 "KEGG DRUG" xref: KEGG:D00326 xref: MeSH:D005473 xref: NCIt:C506 xref: Patent:DE2500110 "Patent" xref: Patent:DE2500110 xref: Patent:US4314081 "Patent" xref: Patent:US4314081 xref: PMID:19144769 {source="Europe PMC"} xref: PMID:22903652 {source="Europe PMC"} xref: PMID:22923967 {source="Europe PMC"} xref: PMID:23885544 {source="Europe PMC"} xref: PMID:24184049 {source="Europe PMC"} xref: PMID:24399719 {source="Europe PMC"} xref: PMID:24464553 {source="Europe PMC"} xref: PMID:24997906 {source="Europe PMC"} xref: PMID:25448156 {source="Europe PMC"} xref: PMID:25639887 {source="Europe PMC"} xref: PMID:25671301 {source="Europe PMC"} xref: PMID:8694321 {source="Europe PMC"} xref: Reaxys:3991406 {source="Reaxys"} xref: SNOMEDCT:372767007 xref: SNOMEDCT:53640004 xref: Wikipedia:Fluoxetine "Wikipedia" xref: Wikipedia:Fluoxetine is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:35469 ! antidepressant property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C17H18F3NO" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "309.32610" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "309.13405" xsd:string [Term] id: CHEBI:5123 name: fluphenazine namespace: chebi_ontology def: "A member of the class of phenothiazines that is 10H-phenothiazine having a trifluoromethyl subsitituent at the 2-position and a 3-[4-(2-hydroxyethyl)piperazin-1-yl]propyl group at the N-10 position." [] subset: 3_STAR synonym: "1-(2-hydroxyethyl)-4-(3-(trifluoromethyl-10-phenothiazinyl)propyl)-piperazine" RELATED [ChemIDplus] synonym: "10-(3'-(4''-(beta-hydroxyethyl)-1''-piperazinyl)-propyl)-3-trifluoromethylphenothiazine" RELATED [ChemIDplus] synonym: "10-(3-(2-hydroxyethyl)piperazinopropyl)-2-(trifluoromethyl)phenothiazine" RELATED [NIST_Chemistry_WebBook] synonym: "2-(4-(3-[2-(trifluoromethyl)-10H-phenothiazin-10-yl]propyl)-1-piperazinyl)ethanol" RELATED [NIST_Chemistry_WebBook] synonym: "2-(4-{3-[2-(trifluoromethyl)-10H-phenothiazin-10-yl]propyl}piperazin-1-yl)ethan-1-ol" EXACT IUPAC_NAME [IUPAC] synonym: "2-(trifluoromethyl)-10-(3-(1-(beta-hydroxyethyl)-4-piperazinyl)propyl)phenothiazine" RELATED [ChemIDplus] synonym: "4-(3-(-trifluoromethyl-10-phenothiazyl)-propyl)-1-piperazineethanol" RELATED [ChemIDplus] synonym: "4-(3-(2-(trifluoromethyl)-10H-phenothiazin-10-yl)propyl)-1-piperazineethanol" RELATED [ChemIDplus] synonym: "4-(3-(2-trifluoromethyl-10-phenothiazyl)-propyl)-1-piperazineethanol" RELATED [ChemIDplus] synonym: "flufenazina" RELATED [ChemIDplus] synonym: "Fluorfenazine" RELATED [DrugBank] synonym: "Fluorophenazine" RELATED [DrugBank] synonym: "Fluorphenazine" RELATED [DrugBank] synonym: "Fluphenazine" EXACT [KEGG_COMPOUND] synonym: "fluphenazine" RELATED INN [KEGG_DRUG] synonym: "fluphenazinum" RELATED INN [ChemIDplus] synonym: "Triflumethazine" RELATED [DrugBank] xref: Beilstein:1189506 {source="Beilstein"} xref: Beilstein:61643 {source="Beilstein"} xref: CAS:69-23-8 {source="KEGG COMPOUND"} xref: CAS:69-23-8 {source="ChemIDplus"} xref: CAS:69-23-8 {source="NIST Chemistry WebBook"} xref: Drug_Central:1212 {source="DrugCentral"} xref: DrugBank:DB00623 xref: Gmelin:1231182 {source="Gmelin"} xref: HMDB:HMDB0014761 xref: KEGG:C07010 xref: KEGG:D07977 xref: LINCS:LSM-3226 xref: Patent:GB829246 xref: Patent:GB833474 xref: Patent:US3058979 xref: Patent:US3194733 xref: PMID:13950763 {source="Europe PMC"} xref: PMID:16117689 {source="Europe PMC"} xref: PMID:1650428 {source="Europe PMC"} xref: PMID:16839522 {source="Europe PMC"} xref: PMID:25595294 {source="Europe PMC"} xref: PMID:5128930 {source="Europe PMC"} xref: Reaxys:61643 {source="Reaxys"} xref: Wikipedia:Fluphenazine is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H26F3N3OS" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C22H26F3N3OS/c23-22(24,25)17-6-7-21-19(16-17)28(18-4-1-2-5-20(18)30-21)9-3-8-26-10-12-27(13-11-26)14-15-29/h1-2,4-7,16,29H,3,8-15H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PLDUPXSUYLZYBN-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "437.52200" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "437.17487" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OCCN1CCN(CCCN2c3ccccc3Sc3ccc(cc23)C(F)(F)F)CC1" xsd:string [Term] id: CHEBI:5132 name: flutamide namespace: chebi_ontology subset: 3_STAR synonym: "2-methyl-N-[4-nitro-3-(trifluoromethyl)phenyl]propanamide" EXACT IUPAC_NAME [IUPAC] synonym: "4'-nitro-3'-trifluoromethylisobutyranilide" RELATED [ChemIDplus] synonym: "alpha,alpha,alpha-trifluoro-2-methyl-4'-nitro-m-propionotoluidide" RELATED [ChemIDplus] synonym: "Eulexin" RELATED [ChemIDplus] synonym: "flutamida" RELATED INN [ChEBI] synonym: "Flutamide" EXACT [KEGG_COMPOUND] synonym: "flutamide" RELATED INN [ChEBI] synonym: "flutamidum" RELATED INN [ChEBI] synonym: "niftolid" RELATED [ChEBI] synonym: "Niftolide" RELATED [ChemIDplus] xref: Beilstein:2157663 {source="ChemIDplus"} xref: CAS:13311-84-7 {source="ChemIDplus"} xref: CAS:13311-84-7 {source="KEGG COMPOUND"} xref: Drug_Central:1223 {source="DrugCentral"} xref: DrugBank:DB00499 xref: KEGG:C07653 xref: KEGG:D00586 xref: LINCS:LSM-2621 xref: Patent:DE2130450 xref: Patent:DE2261293 xref: Patent:US3847988 xref: Wikipedia:Flutamide is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C11H11F3N2O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C11H11F3N2O3/c1-6(2)10(17)15-7-3-4-9(16(18)19)8(5-7)11(12,13)14/h3-6H,1-2H3,(H,15,17)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "MKXKFYHWDHIYRV-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "276.21180" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "276.07218" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)C(=O)Nc1ccc(c(c1)C(F)(F)F)[N+]([O-])=O" xsd:string [Term] id: CHEBI:51953 name: polyamide namespace: chebi_ontology subset: 1_STAR is_a: EFO:0004417 ! amide [Term] id: CHEBI:52010 name: chlorphenamine namespace: chebi_ontology alt_id: CHEBI:3644 alt_id: CHEBI:52008 def: "A tertiary amino compound that is propylamine which is substituted at position 3 by a pyridin-2-yl group and a p-chlorophenyl group and in which the hydrogens attached to the nitrogen are replaced by methyl groups. A histamine H1 antagonist, it is used to relieve the symptoms of hay fever, rhinitis, urticaria, and asthma." [] subset: 3_STAR synonym: "1-(p-chlorophenyl)-1-(2-pyridyl)-3-dimethylaminopropane" RELATED [NIST_Chemistry_WebBook] synonym: "1-(p-chlorophenyl)-1-(2-pyridyl)-3-N,N-dimethylpropylamine" RELATED [ChemIDplus] synonym: "2-[p-chloro-alpha-[2-(dimethylamino)ethyl]benzyl]pyridine" RELATED [NIST_Chemistry_WebBook] synonym: "3-(4-chlorophenyl)-N,N-dimethyl-3-pyridin-2-ylpropan-1-amine" EXACT IUPAC_NAME [IUPAC] synonym: "3-(p-chlorophenyl)-3-(2-pyridyl)-N,N-dimethylpropylamine" RELATED [ChemIDplus] synonym: "chlorophenylpyridamine" RELATED [ChemIDplus] synonym: "Chlorphenamin" RELATED [ChEBI] synonym: "Chlorphenamine" EXACT [KEGG_COMPOUND] synonym: "chlorphenamine" RELATED INN [KEGG_DRUG] synonym: "chlorphenamine" RELATED INN [WHO_MedNet] synonym: "chlorphenaminum" RELATED INN [ChemIDplus] synonym: "Chlorpheniramine" RELATED [KEGG_COMPOUND] synonym: "chlorpheniraminum" RELATED [ChemIDplus] synonym: "Clofeniramina" RELATED BRAND_NAME [KEGG_DRUG] synonym: "clorfenamina" RELATED INN [ChemIDplus] synonym: "clorfeniramina" RELATED [ChemIDplus] synonym: "gamma-(4-chlorophenyl)-gamma-(2-pyridyl)propyldimethylamine" RELATED [ChemIDplus] synonym: "gamma-(4-chlorophenyl)-N,N-dimethyl-2-pyridinepropanamine" RELATED [NIST_Chemistry_WebBook] synonym: "Haynon" RELATED BRAND_NAME [ChemIDplus] xref: Beilstein:87362 {source="Beilstein"} xref: CAS:132-22-9 {source="NIST Chemistry WebBook"} xref: CAS:132-22-9 {source="ChemIDplus"} xref: CAS:132-22-9 {source="KEGG COMPOUND"} xref: Drug_Central:616 {source="DrugCentral"} xref: DrugBank:DB01114 {source="SUBMITTER"} xref: HMDB:HMDB0001944 xref: KEGG:C06905 xref: KEGG:D07398 xref: LINCS:LSM-1263 xref: Patent:US2567245 xref: Patent:US2676964 xref: Patent:US2766174 xref: PMID:10796091 {source="Europe PMC"} xref: PMID:11284026 {source="Europe PMC"} xref: PMID:16119587 {source="Europe PMC"} xref: PMID:16413139 {source="Europe PMC"} xref: Reaxys:87362 {source="Reaxys"} xref: Wikipedia:Chlorpheniramine is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C16H19ClN2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C16H19ClN2/c1-19(2)12-10-15(16-5-3-4-11-18-16)13-6-8-14(17)9-7-13/h3-9,11,15H,10,12H2,1-2H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SOYKEARSMXGVTM-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "274.78800" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "274.12368" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN(C)CCC(c1ccc(Cl)cc1)c1ccccn1" xsd:string [Term] id: CHEBI:52172 name: nilotinib namespace: chebi_ontology subset: 3_STAR synonym: "4-methyl-N-[3-(4-methyl-1H-imidazol-1-yl)-5-(trifluoromethyl)phenyl]-3-[(4-pyridin-3-ylpyrimidin-2-yl)amino]benzamide" EXACT IUPAC_NAME [IUPAC] synonym: "AMN 107" RELATED [ChemIDplus] synonym: "AMN107" RELATED [ChemIDplus] synonym: "nilotinib" EXACT [UniProt] synonym: "nilotinib" RELATED INN [WHO_MedNet] synonym: "nilotinibum" RELATED INN [ChEBI] xref: CAS:641571-10-0 {source="ChemIDplus"} xref: Drug_Central:1932 {source="DrugCentral"} xref: DrugBank:DB04868 xref: KEGG:D08953 xref: LINCS:LSM-1099 xref: MeSH:C079909 xref: NCIt:C48375 xref: SNOMEDCT:427941004 xref: SNOMEDCT:428468009 xref: Wikipedia:Nilotinib is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:35610 ! antineoplastic agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C28H22F3N7O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C28H22F3N7O/c1-17-5-6-19(10-25(17)37-27-33-9-7-24(36-27)20-4-3-8-32-14-20)26(39)35-22-11-21(28(29,30)31)12-23(13-22)38-15-18(2)34-16-38/h3-16H,1-2H3,(H,35,39)(H,33,36,37)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HHZIURLSWUIHRB-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "529.51580" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "529.18379" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cc1cn(cn1)-c1cc(NC(=O)c2ccc(C)c(Nc3nccc(n3)-c3cccnc3)c2)cc(c1)C(F)(F)F" xsd:string [Term] id: CHEBI:52289 name: wortmannin namespace: chebi_ontology alt_id: CHEBI:43674 subset: 3_STAR synonym: "(1S,6bR,9aS,11R,11bR)-9a,11b-dimethyl-1-[(methyloxy)methyl]-3,6,9-trioxo-1,6,6b,7,8,9,9a,10,11,11b-decahydro-3H-furo[4,3,2-de]indeno[4,5-h]isochromen-11-yl acetate" EXACT IUPAC_NAME [IUPAC] synonym: "Wartmannin" RELATED [ChemIDplus] xref: Beilstein:67676 {source="Beilstein"} xref: CAS:19545-26-7 {source="ChemIDplus"} xref: CAS:19545-26-7 {source="KEGG COMPOUND"} xref: DrugBank:DB08059 xref: HMDB:HMDB0259902 xref: KEGG:C15181 xref: KNApSAcK:C00023672 xref: LINCS:LSM-3947 xref: MetaCyc:CPD-11924 xref: PDBeChem:KWT xref: PMID:11090628 {source="Europe PMC"} xref: PMID:18703838 {source="Europe PMC"} xref: PMID:19805105 {source="Europe PMC"} xref: PMID:20017609 {source="Europe PMC"} xref: PMID:22003059 {source="Europe PMC"} xref: PMID:22056625 {source="Europe PMC"} xref: PMID:22524784 {source="Europe PMC"} xref: PMID:25449276 {source="Europe PMC"} xref: PMID:27375631 {source="Europe PMC"} xref: PMID:28000865 {source="Europe PMC"} xref: PMID:28474885 {source="Europe PMC"} xref: PMID:30036994 {source="Europe PMC"} xref: PMID:32052028 {source="Europe PMC"} xref: PMID:34306363 {source="Europe PMC"} xref: Reaxys:67676 {source="Reaxys"} xref: Wikipedia:Wortmannin is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C23H24O8" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C23H24O8/c1-10(24)30-13-7-22(2)12(5-6-14(22)25)16-18(13)23(3)15(9-28-4)31-21(27)11-8-29-20(17(11)23)19(16)26/h8,12-13,15H,5-7,9H2,1-4H3/t12-,13+,15+,22-,23-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QDLHCMPXEPAAMD-QAIWCSMKSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "428.437" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "428.14712" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12CCC(=O)[C@@]1(C)C[C@@H](OC(C)=O)C1=C2C(=O)C2=C3C(=CO2)C(=O)O[C@H](COC)[C@]13C" xsd:string [Term] id: CHEBI:52449 name: 5-oxo-ETE namespace: chebi_ontology alt_id: CHEBI:120616 alt_id: CHEBI:34460 alt_id: CHEBI:52287 alt_id: CHEBI:60950 def: "An oxoicosatetraenoic acid having a 5-oxo group; and (6E)-, (8Z), (11Z)- and (14Z)-double bonds." [] subset: 3_STAR synonym: "(6E,8Z,11Z,14Z)-5-Oxoicosa-6,8,11,14-tetraenoic acid" RELATED [KEGG_COMPOUND] synonym: "(6E,8Z,11Z,14Z)-5-oxoicosa-6,8,11,14-tetraenoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "5-KETE" RELATED [ChEBI] synonym: "5-keto-ETE" RELATED [ChEBI] synonym: "5-ketoeicosatetraenoic acid" RELATED [ChEBI] synonym: "5-oxo, 6t,8c,11c,14c-20:4" RELATED [ChEBI] synonym: "5-oxo-6(E),8(Z),11(Z),14(Z)-eicosatetraenoic acid" RELATED [ChEBI] synonym: "5-oxo-6E,8Z,11Z,14Z-eicosatetraenoic acid" RELATED [SUBMITTER] synonym: "5-Oxo-icosa-6,8,11,14-tetraenoic acid" RELATED [ChEMBL] synonym: "5-Oxoeicosatetraenoic acid" RELATED [KEGG_COMPOUND] synonym: "5-OxoETE" RELATED [KEGG_COMPOUND] synonym: "5-Oxoicosatetraenoic acid" RELATED [KEGG_COMPOUND] synonym: "eicosa-5,8,12,14-tetraenoic acid" RELATED [ChEBI] xref: HMDB:HMDB0010217 xref: KEGG:C14732 xref: LIPID_MAPS_instance:LMFA03060011 {source="LIPID MAPS"} xref: PMID:15893379 {source="Europe PMC"} xref: PMID:16159627 {source="Europe PMC"} xref: PMID:19450703 {source="Europe PMC"} xref: PMID:3599023 {source="ChEMBL"} xref: PMID:8906847 {source="Europe PMC"} xref: Reaxys:6213921 {source="Reaxys"} is_a: CHEBI:35366 ! fatty acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H30O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H30O3/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-16-19(21)17-15-18-20(22)23/h6-7,9-10,12-14,16H,2-5,8,11,15,17-18H2,1H3,(H,22,23)/b7-6-,10-9-,13-12-,16-14+" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "MEASLHGILYBXFO-XTDASVJISA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "318.45040" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "318.21949" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCC\\C=C/C\\C=C/C\\C=C/C=C/C(=O)CCCC(O)=O" xsd:string [Term] id: CHEBI:52640 name: N-acylethanolamine namespace: chebi_ontology alt_id: CHEBI:50870 alt_id: CHEBI:52579 def: "An ethanolamine substituted at nitrogen by an acyl group." [] subset: 3_STAR synonym: "acylethanolamide" RELATED [ChEBI] synonym: "acylethanolamides" RELATED [ChEBI] synonym: "an N-acylethanolamine" RELATED [UniProt] synonym: "N-acylethanolamines" RELATED [ChEBI] xref: MeSH:C022203 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H6NO2R" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "88.08520" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "88.03985" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OCCNC([*])=O" xsd:string [Term] id: CHEBI:52649 name: 1-O-oleoyl-sn-glycero-3-phosphoserine namespace: chebi_ontology def: "A 1-acyl-sn-glycerophosphoserine compound having an oleoyl substituent at the 1-hydroxy position." [] subset: 3_STAR synonym: "1-(9Z-octadecenoyl)-sn-glycero-3-phosphoserine" RELATED [ChEBI] synonym: "1-oleoyl-sn-glycero-3-phosphoserine" RELATED [ChEBI] synonym: "O-[hydroxy({(2R)-2-hydroxy-3-[(9Z)-octadec-9-enoyloxy]propyl}oxy)phosphoryl]-L-serine" EXACT IUPAC_NAME [IUPAC] synonym: "PS(18:1(9Z)/0:0)" RELATED [LIPID_MAPS] xref: Beilstein:8177685 {source="Beilstein"} xref: HMDB:HMDB0061694 xref: LIPID_MAPS_instance:LMGP03050001 {source="LIPID MAPS"} is_a: CHEBI:16247 ! phospholipid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C24H46NO9P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C24H46NO9P/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-23(27)32-18-21(26)19-33-35(30,31)34-20-22(25)24(28)29/h9-10,21-22,26H,2-8,11-20,25H2,1H3,(H,28,29)(H,30,31)/b10-9-/t21-,22+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JZWNYZVVZXZRRH-YFKVPUFHSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "523.59710" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "523.29102" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCC\\C=C/CCCCCCCC(=O)OC[C@@H](O)COP(O)(=O)OC[C@H](N)C(O)=O" xsd:string [Term] id: CHEBI:52717 name: bortezomib namespace: chebi_ontology alt_id: CHEBI:41143 def: "L-Phenylalaninamide substituted at the amide nitrogen by a 1-(dihydroxyboranyl)-3-methylbutyl group and at N(alpha) by a pyrazin-2-ylcarbonyl group. It is a dipeptidyl boronic acid that reversibly inhibits the 26S proteasome." [] subset: 3_STAR synonym: "[(1R)-3-methyl-1-({(2S)-3-phenyl-2-[(pyrazin-2-ylcarbonyl)amino]propanoyl}amino)butyl]boronic acid" EXACT IUPAC_NAME [IUPAC] synonym: "bortezomib" EXACT [UniProt] synonym: "bortezomib" RELATED INN [ChemIDplus] synonym: "N-[(1R)-1-(dihydroxyboranyl)-3-methylbutyl]-N(alpha)-(pyrazin-2-ylcarbonyl)-L-phenylalaninamide" EXACT IUPAC_NAME [IUPAC] synonym: "N-[(1R)-1-(DIHYDROXYBORYL)-3-METHYLBUTYL]-N-(PYRAZIN-2-YLCARBONYL)-L-PHENYLALANINAMIDE" RELATED [PDBeChem] synonym: "PS 341" RELATED [ChemIDplus] synonym: "PS-341" RELATED [ChemIDplus] synonym: "Velcade" RELATED BRAND_NAME [DrugBank] xref: CAS:179324-69-7 {source="ChemIDplus"} xref: Drug_Central:391 {source="DrugCentral"} xref: DrugBank:DB00188 xref: KEGG:D03150 xref: LINCS:LSM-6281 xref: MeSH:C400082 xref: NCIt:C1851 xref: PDBeChem:BO2 xref: PMID:18484921 {source="Europe PMC"} xref: PMID:18980173 {source="Europe PMC"} xref: PMID:21504411 {source="Europe PMC"} xref: PMID:21865767 {source="Europe PMC"} xref: Reaxys:8723817 {source="Reaxys"} xref: SNOMEDCT:398907002 xref: SNOMEDCT:407097007 xref: Wikipedia:Bortezomib is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:35610 ! antineoplastic agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H25BN4O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H25BN4O4/c1-13(2)10-17(20(27)28)24-18(25)15(11-14-6-4-3-5-7-14)23-19(26)16-12-21-8-9-22-16/h3-9,12-13,15,17,27-28H,10-11H2,1-2H3,(H,23,26)(H,24,25)/t15-,17-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GXJABQQUPOEUTA-RDJZCZTQSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "384.23700" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "384.19689" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)C[C@H](NC(=O)[C@H](Cc1ccccc1)NC(=O)c1cnccn1)B(O)O" xsd:string [Term] id: CHEBI:5296 name: gemfibrozil namespace: chebi_ontology subset: 3_STAR synonym: "2,2-Dimethyl-5-(2,5-dimethylphenoxy)valeriansaeure" RELATED [ChemIDplus] synonym: "2,2-Dimethyl-5-(2,5-xylyloxy)valeriansaeure" RELATED [ChemIDplus] synonym: "2,2-Dimethyl-5-(2,5-xylyloxy)valeric acid" RELATED [ChemIDplus] synonym: "5-(2,5-dimethylphenoxy)-2,2-dimethylpentanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "Gemfibrozil" EXACT [KEGG_DRUG] synonym: "gemfibrozil" RELATED INN [ChemIDplus] synonym: "Gemfibrozilo" RELATED INN [ChemIDplus] synonym: "gemfibrozilum" RELATED INN [ChemIDplus] synonym: "Lopid" RELATED BRAND_NAME [DrugBank] xref: Beilstein:1881200 {source="Beilstein"} xref: CAS:25812-30-0 {source="ChemIDplus"} xref: CAS:25812-30-0 {source="KEGG DRUG"} xref: Drug_Central:1285 {source="DrugCentral"} xref: DrugBank:DB01241 xref: KEGG:D00334 xref: LINCS:LSM-2227 xref: Patent:DE1925423 xref: Patent:US3674836 xref: Patent:US4126637 xref: Wikipedia:Gemfibrozil is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C15H22O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C15H22O3/c1-11-6-7-12(2)13(10-11)18-9-5-8-15(3,4)14(16)17/h6-7,10H,5,8-9H2,1-4H3,(H,16,17)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HEMJJKBWTPKOJG-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "250.33338" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "250.15689" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cc1ccc(C)c(OCCCC(C)(C)C(O)=O)c1" xsd:string [Term] id: CHEBI:529996 name: cytochalasin D namespace: chebi_ontology def: "An organic heterotricyclic compound that is a mycotoxin produced by Helminthosporium and other moulds which is cell permeable and a potent inhibitor of actin polymerisation and DNA synthesis." [] subset: 3_STAR synonym: "(3S,3aR,4S,6S,7E,10S,12R,13E,15R,15aR)-3-benzyl-6,12-dihydroxy-4,10,12-trimethyl-5-methylene-1,11-dioxo-2,3,3a,4,5,6,6a,9,10,11,12,15-dodecahydro-1H-cycloundeca[d]isoindol-15-yl acetate" EXACT IUPAC_NAME [IUPAC] synonym: "7,18-Dihydroxy-10-phenyl-5,16,18-trimethyl-(11)cytochalas-21-acetoxy-6(12),13,19-trien-17-one" RELATED [ChemIDplus] synonym: "Cytohalasin D" RELATED [ChemIDplus] synonym: "Lygosporin A" RELATED [ChemIDplus] synonym: "Zygosporin A" RELATED [ChemIDplus] xref: Beilstein:1632828 {source="Beilstein"} xref: CAS:22144-77-0 {source="ChemIDplus"} xref: PDBeChem:CY9 xref: PMID:20010439 {source="Europe PMC"} xref: PMID:22305779 {source="Europe PMC"} xref: PMID:22684244 {source="Europe PMC"} xref: PMID:22728040 {source="Europe PMC"} xref: PMID:23615686 {source="Europe PMC"} xref: PMID:5800426 {source="Europe PMC"} xref: PMID:7199049 {source="Europe PMC"} xref: Reaxys:1632828 {source="Reaxys"} xref: Wikipedia:Cytochalasin_D is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C30H37NO6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C30H37NO6/c1-17-10-9-13-22-26(33)19(3)18(2)25-23(16-21-11-7-6-8-12-21)31-28(35)30(22,25)24(37-20(4)32)14-15-29(5,36)27(17)34/h6-9,11-15,17-18,22-26,33,36H,3,10,16H2,1-2,4-5H3,(H,31,35)/b13-9+,15-14+/t17-,18+,22?,23-,24+,25-,26+,29+,30+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SDZRWUKZFQQKKV-FJUULPFHSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "507.61790" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "507.26209" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]12[C@H](Cc3ccccc3)NC(=O)[C@]11[C@H](OC(C)=O)\\C=C\\[C@@](C)(O)C(=O)[C@@H](C)C\\C=C\\C1[C@H](O)C(=C)[C@H]2C" xsd:string [Term] id: CHEBI:53003 name: naphthalene-1,5-diamine namespace: chebi_ontology def: "A naphthalenediamine compound having amino substituents in the 1- and 5-positions." [] subset: 3_STAR synonym: "1,5-Diaminonaphthalene" RELATED [ChemIDplus] synonym: "1,5-diaminonaphthalene" RELATED [SUBMITTER] synonym: "1,5-Naphthalenediamine" RELATED [ChemIDplus] synonym: "1,5-naphthalenediamine" RELATED [SUBMITTER] synonym: "1,5-Naphthylenediamine" RELATED [ChemIDplus] synonym: "naphthalene-1,5-diamine" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:907947 {source="Beilstein"} xref: CAS:2243-62-1 {source="NIST Chemistry WebBook"} xref: CAS:2243-62-1 {source="ChemIDplus"} xref: CAS:2243-62-1 {source="KEGG COMPOUND"} xref: ChEMBL:668125 xref: ChemIDplus:2243-62-1 xref: KEGG:C19463 xref: MeSH:C034086 xref: MeSH:C510889 xref: NIST Chemistry WebBook:2243-62-1 is_a: EFO:0004417 ! amide relationship: has_role EFO:0004457 ! carcinogen role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H10N2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H10N2/c11-9-5-1-3-7-8(9)4-2-6-10(7)12/h1-6H,11-12H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KQSABULTKYLFEV-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "158.19980" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "158.08440" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Nc1cccc2c(N)cccc12" xsd:string [Term] id: CHEBI:53049 name: 1-fluoro-2,4-dinitrobenzene namespace: chebi_ontology def: "The organofluorine compound that is benzene with a fluoro substituent at the 1-position and two nitro substituents in the 2- and 4-positions." [] subset: 3_STAR synonym: "1,2,4-Fluorodinitrobenzene" RELATED [NIST_Chemistry_WebBook] synonym: "1-Fluoro-2,4-dinitrobenzene" EXACT [ChemIDplus] synonym: "1-fluoro-2,4-dinitrobenzene" EXACT IUPAC_NAME [IUPAC] synonym: "2,4-Dinitro-1-fluorobenzene" RELATED [ChemIDplus] synonym: "2,4-Dinitrobenzene fluoride" RELATED [ChemIDplus] synonym: "2,4-Dinitrobenzenefluoride" RELATED [ChemIDplus] synonym: "2,4-Dinitrofluorobenzene" RELATED [ChemIDplus] synonym: "2,4-Dinitrophenyl fluoride" RELATED [ChemIDplus] synonym: "2,4-DNFB" RELATED [ChemIDplus] synonym: "2,4-Dnfb" RELATED [NIST_Chemistry_WebBook] synonym: "DFB" RELATED [NIST_Chemistry_WebBook] synonym: "Dinitrofluorobenzene" RELATED [ChemIDplus] synonym: "DNFB" RELATED [ChemIDplus] synonym: "FDNB" RELATED [ChemIDplus] synonym: "Fluoro-2,4-dinitrobenzene" RELATED [ChemIDplus] synonym: "Fluorodinitrobenzene" RELATED [ChemIDplus] xref: Beilstein:398632 {source="Beilstein"} xref: CAS:70-34-8 {source="NIST Chemistry WebBook"} xref: CAS:70-34-8 {source="ChemIDplus"} xref: Gmelin:564641 {source="Gmelin"} xref: MetaCyc:CPD-8983 xref: PMID:10570824 {source="Europe PMC"} xref: PMID:10868578 {source="Europe PMC"} xref: PMID:10910205 {source="Europe PMC"} xref: PMID:11733853 {source="Europe PMC"} xref: PMID:11739495 {source="Europe PMC"} xref: PMID:12093520 {source="Europe PMC"} xref: PMID:14630357 {source="Europe PMC"} xref: PMID:15307184 {source="Europe PMC"} xref: PMID:15328335 {source="Europe PMC"} xref: PMID:15696100 {source="Europe PMC"} xref: PMID:15801672 {source="Europe PMC"} xref: PMID:17517538 {source="Europe PMC"} xref: PMID:17917283 {source="Europe PMC"} xref: PMID:1854019 {source="Europe PMC"} xref: PMID:18827366 {source="Europe PMC"} xref: PMID:18965207 {source="Europe PMC"} xref: PMID:2100626 {source="Europe PMC"} xref: PMID:2176869 {source="Europe PMC"} xref: PMID:23076500 {source="Europe PMC"} xref: PMID:23190882 {source="Europe PMC"} xref: PMID:23199096 {source="Europe PMC"} xref: PMID:23286949 {source="Europe PMC"} xref: PMID:23395695 {source="Europe PMC"} xref: PMID:23474456 {source="Europe PMC"} xref: PMID:23529340 {source="Europe PMC"} xref: PMID:2420897 {source="Europe PMC"} xref: PMID:24399719 {source="Europe PMC"} xref: PMID:2807957 {source="Europe PMC"} xref: PMID:3121792 {source="Europe PMC"} xref: PMID:7900773 {source="Europe PMC"} xref: PMID:7994925 {source="Europe PMC"} xref: PMID:8248333 {source="Europe PMC"} xref: PMID:8466279 {source="Europe PMC"} xref: PMID:9326394 {source="Europe PMC"} xref: Reaxys:398632 {source="Reaxys"} xref: Wikipedia:1-Fluoro-2\,4-dinitrobenzene is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H3FN2O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H3FN2O4/c7-5-2-1-4(8(10)11)3-6(5)9(12)13/h1-3H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LOTKRQAVGJMPNV-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "186.09740" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "186.00768" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-][N+](=O)c1ccc(F)c(c1)[N+]([O-])=O" xsd:string [Term] id: CHEBI:53109 name: Bandrowski's base namespace: chebi_ontology def: "A quinone imine having amino substituents in the 2- and 5-positions and 4-aminophenyl substituents on both of the imine nitrogens. It is a trimer formed from 1,4-phenylenediamine." [] subset: 3_STAR synonym: "3,6-bis((p-aminophenyl)imino)-1,4-cyclohexadiene-1,4-diamine" RELATED [ChemIDplus] synonym: "3,6-bis[(p-aminophenyl)imino ]cyclohexa-1,4-diene-1,4-diamine" RELATED [ChEBI] synonym: "BB" RELATED [ChEBI] synonym: "N(1),N(1)'-(2,5-diaminocyclohexa-2,5-diene-1,4-diylidene)dibenzene-1,4-diamine" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:11464709 {source="Beilstein"} xref: Beilstein:2395527 {source="Beilstein"} xref: Beilstein:3038033 {source="Beilstein"} xref: CAS:20048-27-5 {source="ChemIDplus"} xref: PMID:10771133 {source="Europe PMC"} xref: PMID:11981821 {source="Europe PMC"} xref: PMID:12160146 {source="Europe PMC"} xref: PMID:17014438 {source="Europe PMC"} xref: PMID:17914451 {source="Europe PMC"} xref: PMID:18844695 {source="Europe PMC"} xref: PMID:19136049 {source="Europe PMC"} xref: PMID:19657353 {source="Europe PMC"} xref: PMID:20180511 {source="Europe PMC"} xref: PMID:2195336 {source="Europe PMC"} xref: PMID:22592985 {source="Europe PMC"} xref: PMID:22592989 {source="Europe PMC"} xref: PMID:22927343 {source="Europe PMC"} xref: PMID:8735869 {source="Europe PMC"} xref: PMID:9540973 {source="Europe PMC"} xref: Reaxys:3038033 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H18N6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H18N6/c19-11-1-5-13(6-2-11)23-17-9-16(22)18(10-15(17)21)24-14-7-3-12(20)4-8-14/h1-10H,19-22H2/b23-17+,24-18+" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KKJZEUXMWDXPAU-GJHDBBOXSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "318.37570" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "318.15929" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Nc1ccc(cc1)\\N=C1/C=C(N)\\C(\\C=C/1N)=N\\c1ccc(N)cc1" xsd:string [Term] id: CHEBI:53110 name: 4,5-dianilinophthalimide namespace: chebi_ontology def: "Phthalimide substituted at the 4- and 5-positions by anilino groups." [] subset: 3_STAR synonym: "5,6-bis(phenylamino)-1H-isoindole-1,3(2H)-dione" EXACT IUPAC_NAME [IUPAC] synonym: "Cgp 52411" RELATED [ChemIDplus] synonym: "DAPH" RELATED [ChemIDplus] xref: Beilstein:8134396 {source="SUBMITTER"} xref: CAS:145915-58-8 {source="ChemIDplus"} xref: ChEMBL:102753 xref: ChemIDplus:157168-02-0 xref: Chemspider:1634 xref: CiteXplore:8134396 xref: LINCS:LSM-5309 xref: MeSH:C098874 xref: PMID:24134630 {source="Europe PMC"} xref: PMID:8134396 {source="Europe PMC"} xref: SUBMITTER:8134396 is_a: CHEBI:24532 ! organic heterocyclic compound is_a: EFO:0004417 ! amide relationship: has_role CHEBI:24852 ! insecticide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H15N3O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H15N3O2/c24-19-15-11-17(21-13-7-3-1-4-8-13)18(12-16(15)20(25)23-19)22-14-9-5-2-6-10-14/h1-12,21-22H,(H,23,24,25)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "AAALVYBICLMAMA-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "329.35200" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "329.11643" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O=C1NC(=O)c2cc(Nc3ccccc3)c(Nc3ccccc3)cc12" xsd:string [Term] id: CHEBI:53115 name: 8-(3-chlorostyryl)caffeine namespace: chebi_ontology def: "Caffeine substituted at its 8-position by an (E)-3-chlorostyryl group." [] subset: 3_STAR synonym: "8-[(E)-2-(3-chlorophenyl)ethenyl]-1,3,7-trimethyl-3,7-dihydro-1H-purine-2,6-dione" EXACT IUPAC_NAME [IUPAC] synonym: "CSC" RELATED [ChEBI] xref: Beilstein:8153842 {source="Beilstein"} xref: CAS:147700-11-6 {source="SUBMITTER"} xref: MeSH:C081320 is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C16H15ClN4O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C16H15ClN4O2/c1-19-12(8-7-10-5-4-6-11(17)9-10)18-14-13(19)15(22)21(3)16(23)20(14)2/h4-9H,1-3H3/b8-7+" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WBWFIUAVMCNYPG-BQYQJAHWSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "330.76900" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "330.08835" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cn1c(\\C=C\\c2cccc(Cl)c2)nc2n(C)c(=O)n(C)c(=O)c12" xsd:string [Term] id: CHEBI:53181 name: pristane namespace: chebi_ontology alt_id: CHEBI:77511 def: "A norterpene that is an acyclic saturated hydrocarbon derived from phytane by loss of its C-16 terminal methyl group." [] subset: 3_STAR synonym: "2,6,10,14-tetramethylpentadecane" EXACT IUPAC_NAME [IUPAC] synonym: "Bute hydrocarbon" RELATED [ChemIDplus] synonym: "Norphytan" RELATED [NIST_Chemistry_WebBook] synonym: "Norphytane" RELATED [ChemIDplus] synonym: "Pristan" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:1720538 {source="Beilstein"} xref: Beilstein:1720538 {source="ChemIDplus"} xref: CAS:1921-70-6 {source="ChemIDplus"} xref: CAS:1921-70-6 {source="NIST Chemistry WebBook"} xref: MetaCyc:CPD-15252 xref: PMID:21725847 {source="Europe PMC"} xref: PMID:22076633 {source="Europe PMC"} xref: PMID:22160928 {source="Europe PMC"} xref: PMID:22391806 {source="Europe PMC"} xref: PMID:22422888 {source="Europe PMC"} xref: PMID:22678902 {source="Europe PMC"} xref: PMID:22702720 {source="Europe PMC"} xref: PMID:22917079 {source="Europe PMC"} xref: PMID:22933628 {source="Europe PMC"} xref: PMID:23249408 {source="Europe PMC"} xref: PMID:23342358 {source="Europe PMC"} xref: PMID:23450347 {source="Europe PMC"} xref: PMID:9574571 {source="Europe PMC"} xref: Reaxys:1720538 {source="Reaxys"} xref: Wikipedia:Pristane is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H40" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H40/c1-16(2)10-7-12-18(5)14-9-15-19(6)13-8-11-17(3)4/h16-19H,7-15H2,1-6H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XOJVVFBFDXDTEG-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "268.52090" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "268.31300" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)CCCC(C)CCCC(C)CCCC(C)C" xsd:string [Term] id: CHEBI:53424 name: polysorbate 20 namespace: chebi_ontology def: "A polymer composed of PEG-ylated sorbitan, where the total number of poly(ethylene glycol) units is 20 (w + x + y + z = 20) and a single terminal is capped by a dodecanoyl group." [] subset: 3_STAR synonym: "polisorbato" RELATED INN [WHO_MedNet] synonym: "Polyoxyethylene (20) sorbitan monolaurate" RELATED [ChemIDplus] synonym: "Polyoxyethylene sorbitan monolaurate" RELATED [ChemIDplus] synonym: "Polysorbate" RELATED INN [WHO_MedNet] synonym: "polysorbate" RELATED INN [WHO_MedNet] synonym: "Polysorbate 20" RELATED INN [ChemIDplus] synonym: "polysorbatum" RELATED INN [WHO_MedNet] synonym: "Tween 20" RELATED [SUBMITTER] xref: Beilstein:8973037 {source="Beilstein"} xref: CAS:9005-64-5 {source="KEGG DRUG"} xref: CAS:9005-64-5 {source="KEGG COMPOUND"} xref: CAS:9005-64-5 {source="ChemIDplus"} xref: KEGG:C11624 xref: KEGG:D05565 xref: NCIt:C80937 xref: Reaxys:8187252 {source="Reaxys"} xref: Reaxys:8973037 {source="Reaxys"} xref: SNOMEDCT:412166009 xref: SNOMEDCT:412167000 xref: Wikipedia:Polysorbate_20 is_a: CHEBI:18059 ! lipid relationship: has_role CHEBI:38828 ! nonionic surfactant property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C58H114O26" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "1226.75977" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "1226.760" xsd:string [Term] id: CHEBI:53425 name: polysorbate 60 namespace: chebi_ontology def: "A polymer composed of PEG-ylated sorbitan, where the total number of poly(ethylene glycol) units is 20 (w + x + y + z = 20) and a single terminal is capped by a stearate group." [] subset: 3_STAR synonym: "PEG-60 Sorbitan stearate" RELATED [ChemIDplus] synonym: "polisorbato" RELATED [WHO_MedNet] synonym: "polyoxyethylene (20) sorbitan monostearate" RELATED [ChEBI] synonym: "Polyoxyethylene sorbitan monostearate" RELATED [ChemIDplus] synonym: "Polysorbate" RELATED INN [WHO_MedNet] synonym: "polysorbate" RELATED [WHO_MedNet] synonym: "Polysorbate 60" RELATED INN [ChemIDplus] synonym: "polysorbatum" RELATED [WHO_MedNet] synonym: "Tween 60" RELATED [SUBMITTER] xref: Beilstein:10149223 {source="Beilstein"} xref: Beilstein:8476329 {source="Beilstein"} xref: CAS:9005-67-8 {source="KEGG DRUG"} xref: CAS:9005-67-8 {source="ChemIDplus"} xref: KEGG:D05567 xref: Reaxys:10149223 {source="Reaxys"} xref: Reaxys:15555053 {source="Reaxys"} xref: Reaxys:9319177 {source="Reaxys"} xref: Reaxys:9385260 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C64H124O26" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "1308.83802" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "1308.838" xsd:string [Term] id: CHEBI:53439 name: calcineurin namespace: chebi_ontology xref: MeSH:D019703 xref: NCIt:C17275 is_obsolete: true [Term] id: CHEBI:53444 name: potassium dichromate namespace: chebi_ontology def: "A potassium salt that is the dipotassium salt of dichromic acid." [] subset: 3_STAR synonym: "Chromium potassium oxide" RELATED [ChemIDplus] synonym: "Dichromic acid dipotassium salt" RELATED [ChemIDplus] synonym: "Dipotassium bichromate" RELATED [ChemIDplus] synonym: "Dipotassium dichromate" RELATED [ChemIDplus] synonym: "dipotassium dichromate" EXACT IUPAC_NAME [IUPAC] synonym: "Dipotassium dichromium heptaoxide" RELATED [ChemIDplus] synonym: "Kaliumdichromat" RELATED [ChemIDplus] synonym: "potassium dichromate(2-)" EXACT IUPAC_NAME [IUPAC] synonym: "Potassium dichromate(VI)" RELATED [ChemIDplus] synonym: "potassium dichromate(VI)" EXACT IUPAC_NAME [IUPAC] xref: CAS:7778-50-9 {source="ChemIDplus"} xref: CAS:7778-50-9 {source="NIST Chemistry WebBook"} xref: CAS:7778-50-9 {source="KEGG COMPOUND"} xref: ChEMBL:897985 xref: ChemIDplus:7778-50-9 xref: CiteXplore:18837732 xref: CiteXplore:21616561 xref: CiteXplore:7687268 xref: CiteXplore:8566016 xref: KEGG:C15227 xref: MeSH:D011192 xref: NCIt:C45890 xref: NIST Chemistry WebBook:7778-50-9 xref: PMID:14674893 {source="Europe PMC"} xref: PMID:14744416 {source="Europe PMC"} xref: PMID:15127151 {source="Europe PMC"} xref: PMID:15858473 {source="Europe PMC"} xref: PMID:17244079 {source="Europe PMC"} xref: PMID:18021598 {source="Europe PMC"} xref: PMID:18837732 {source="Europe PMC"} xref: PMID:21616561 {source="Europe PMC"} xref: PMID:23410589 {source="Europe PMC"} xref: PMID:29079364 {source="Europe PMC"} xref: PMID:7687268 {source="Europe PMC"} xref: PMID:8566016 {source="Europe PMC"} xref: SNOMEDCT:19893005 xref: SNOMEDCT:411143006 xref: Wikipedia:Potassium_dichromate is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "Cr2K2O7" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/2Cr.2K.7O/q;;2*+1;;;;;;2*-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KMUONIBRACKNSN-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "294.18460" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "293.77283" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[K+].[K+].[O-][Cr](=O)(=O)O[Cr]([O-])(=O)=O" xsd:string [Term] id: CHEBI:53448 name: methyl cellulose namespace: chebi_ontology def: "A (1->4)-beta-D-glucan compound formed by methylating cellulose through exposure to NaOH/CH3Cl." [] subset: 3_STAR synonym: "Cellulose methyl" RELATED [ChemIDplus] synonym: "cellulose methyl ether" RELATED [SUBMITTER] synonym: "Cellulose methylate" RELATED [ChemIDplus] synonym: "E461" RELATED [SUBMITTER] synonym: "methylated cellulose" RELATED [SUBMITTER] synonym: "Methylcellulose" RELATED INN [ChEBI] synonym: "methylcellulose" RELATED [SUBMITTER] synonym: "Methylcellulosum" RELATED INN [ChemIDplus] synonym: "Metilcelulosa" RELATED INN [ChemIDplus] xref: Beilstein:11200258 {source="Beilstein"} xref: Beilstein:8189187 {source="Beilstein"} xref: CAS:9004-67-5 {source="ChemIDplus"} xref: CAS:9004-67-5 {source="KEGG DRUG"} xref: KEGG:D04996 xref: MeSH:D008747 xref: NCIt:C29253 xref: SNOMEDCT:24504000 xref: SNOMEDCT:387131008 is_a: CHEBI:18154 ! polysaccharide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "(C9H16O5)n" xsd:string [Term] id: CHEBI:53452 name: N-(1-naphthyl)ethylenediamine dihydrochloride namespace: chebi_ontology def: "An ethylenediamine dihydrochloride compound having an N-(1-naphthyl) substituent." [] subset: 3_STAR synonym: "Marshall's reagent" RELATED [SUBMITTER] synonym: "N-(1-naphthyl)ethane-1,2-diaminium dichloride" EXACT IUPAC_NAME [IUPAC] synonym: "N-(1-Naphthyl)ethylenediamine.2HCl" RELATED [SUBMITTER] synonym: "N-(1-Napthyl)ethylene diamine dihydrochloride" RELATED [ChemIDplus] synonym: "N-(1-Napthyl)ethylene diamine HCl" RELATED [ChemIDplus] synonym: "N-1-Naphthalenyl-1,2-ethanediamine dihydrochloride" RELATED [ChemIDplus] xref: Beilstein:3707471 {source="Beilstein"} xref: CAS:1465-25-4 {source="ChemIDplus"} xref: ChEMBL:848198 xref: ChemIDplus:1465-25-4 xref: Gmelin:1810634 {source="Gmelin"} is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12H16Cl2N2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C12H14N2.2ClH/c13-8-9-14-12-7-3-5-10-4-1-2-6-11(10)12;;/h1-7,14H,8-9,13H2;2*1H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "MZNYWPRCVDMOJG-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "259.17500" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "258.06905" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Cl-].[Cl-].[NH3+]CC[NH2+]c1cccc2ccccc12" xsd:string [Term] id: CHEBI:53461 name: neuropeptide S namespace: chebi_ontology is_obsolete: true [Term] id: CHEBI:53486 name: all-cis-icosa-8,11,14-trienoic acid namespace: chebi_ontology alt_id: CHEBI:43587 def: "An icosatrienoic acid having three cis double bonds at positions 8, 11 and 14." [] subset: 3_STAR synonym: "(8Z,11Z,14Z)-icosa-8,11,14-trienoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "(8Z,11Z,14Z)-Icosatrienoic acid" RELATED [KEGG_COMPOUND] synonym: "(Z,Z,Z)-8,11,14-Eicosatrienoic acid" RELATED [KEGG_COMPOUND] synonym: "(Z,Z,Z)-8,11,14-Icosatrienoate" RELATED [KEGG_COMPOUND] synonym: "(Z,Z,Z)-8,11,14-Icosatrienoic acid" RELATED [KEGG_COMPOUND] synonym: "20:3, n-6,9,12 all-cis" RELATED [ChEBI] synonym: "8,11,14-Eicosatrienoic Acid" RELATED [DrugBank] synonym: "8c,11c,14c-eicosatrienoic acid" RELATED [ChEBI] synonym: "8c,11c,14c-Eicosatriensaeure" RELATED [ChEBI] synonym: "8Z,11Z,14Z-eicosatrienoic acid" RELATED [ChEBI] synonym: "all-cis-8,11,14-eicosatrienoic acid" RELATED [ChEBI] synonym: "all-cis-8,11,14-icosatrienoic acid" RELATED [ChEBI] synonym: "all-cis-eicosa-8,11,14-trienoic acid" RELATED [ChEBI] synonym: "all-cis-Eicosa-8,11,14-triensaeure" RELATED [ChEBI] synonym: "C20:3, n-6,9,12 all-cis" RELATED [ChEBI] synonym: "cis,cis,cis-8,11,14-eicosatrienoic acid" RELATED [ChEBI] synonym: "DGLA" RELATED [DrugBank] synonym: "Dihomo-gamma-linolenic acid" RELATED [KEGG_COMPOUND] synonym: "dihomo-gamma-linolenic acid" RELATED [ChEBI] synonym: "eicosa-8Z,11Z,14Z-trienoic acid" RELATED [ChEBI] synonym: "gamma-Homolinolenic acid" RELATED [DrugBank] synonym: "Homo-gamma-linolenic acid" RELATED [SUBMITTER] synonym: "Homo-gamma-linolensaeure" RELATED [ChEBI] xref: Beilstein:1913514 {source="Beilstein"} xref: CAS:1783-84-2 {source="KEGG COMPOUND"} xref: CAS:1783-84-2 {source="ChemIDplus"} xref: DrugBank:DB00154 xref: HMDB:HMDB0002925 xref: KEGG:C03242 xref: LIPID_MAPS_instance:LMFA01030158 {source="LIPID MAPS"} xref: PDBeChem:LAX xref: PMID:3781468 {source="Europe PMC"} xref: PMID:9668087 {source="Europe PMC"} xref: Reaxys:1913514 {source="Reaxys"} is_a: CHEBI:35366 ! fatty acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H34O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H34O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-18-19-20(21)22/h6-7,9-10,12-13H,2-5,8,11,14-19H2,1H3,(H,21,22)/b7-6-,10-9-,13-12-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HOBAELRKJCKHQD-QNEBEIHSSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "306.48280" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "306.25588" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCC\\C=C/C\\C=C/C\\C=C/CCCCCCC(O)=O" xsd:string [Term] id: CHEBI:53542 name: nickel chloride hexahydrate namespace: chebi_ontology def: "A hydrate of nickel chloride containing nickel (in the +2 oxidation state), chloride and water moeities in the ratio 1:2:6." [] subset: 3_STAR synonym: "Nickel chloride hexahydrate" EXACT [ChemIDplus] synonym: "nickel chloride--water (1/6)" EXACT IUPAC_NAME [IUPAC] synonym: "Nickel dichloride hexahydrate" RELATED [ChemIDplus] synonym: "nickel(II) chloride hexahydrate" RELATED [ChEBI] synonym: "Nickel(II) chloride, hexahydrate" RELATED [ChemIDplus] xref: CAS:7791-20-0 {source="ChemIDplus"} xref: Gmelin:10512 {source="Gmelin"} xref: PMID:11739495 {source="Europe PMC"} xref: PMID:14734778 {source="Europe PMC"} xref: PMID:15191398 {source="Europe PMC"} xref: PMID:22234432 {source="Europe PMC"} xref: PMID:22975724 {source="Europe PMC"} xref: PMID:23821107 {source="Europe PMC"} xref: PMID:29079364 {source="Europe PMC"} xref: Reaxys:16506017 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "Cl2H12NiO6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/2ClH.Ni.6H2O/h2*1H;;6*1H2/q;;+2;;;;;;/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LAIZPRYFQUWUBN-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "237.69100" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "235.93644" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O.O.O.O.O.O.[Cl-].[Cl-].[Ni++]" xsd:string [Term] id: CHEBI:53766 name: acenocoumarol namespace: chebi_ontology alt_id: CHEBI:494206 def: "A hydroxycoumarin that is warfarin in which the hydrogen at position 4 of the phenyl substituent is replaced by a nitro group." [] subset: 3_STAR synonym: "3-(alpha-(4'-Nitrophenyl)-beta-acetylethyl)-4-hydroxycoumarin" RELATED [ChemIDplus] synonym: "3-(alpha-(p-Nitrophenol)-beta-acetylethyl)-4-hydroxycoumarin" RELATED [NIST_Chemistry_WebBook] synonym: "3-(alpha-Acetonyl-4-nitrobenzyl)-4-hydroxycoumarin" RELATED [ChemIDplus] synonym: "3-(alpha-Acetonyl-p-nitrobenzyl)-4-hydroxycoumarin" RELATED [ChemIDplus] synonym: "3-(alpha-p-Nitrophenyl-beta-acetylethyl)-4-hydroxycoumarin" RELATED [ChemIDplus] synonym: "4-Hydroxy-3-(1-(4-nitrophenyl)-3-oxobutyl)-2H-1-benzopyran-2-one" RELATED [NIST_Chemistry_WebBook] synonym: "4-Hydroxy-3-[1-(4-nitrophenyl)-3-oxobutyl]-2H-chromen-2-one" RELATED [NIST_Chemistry_WebBook] synonym: "4-hydroxy-3-[1-(4-nitrophenyl)-3-oxobutyl]-2H-chromen-2-one" EXACT IUPAC_NAME [IUPAC] synonym: "Acenocoumarin" RELATED [KEGG_DRUG] synonym: "acenocoumarol" RELATED INN [KEGG_DRUG] synonym: "acenocoumarol" RELATED INN [WHO_MedNet] synonym: "acenocoumarolum" RELATED INN [DrugBank] synonym: "acenocumarol" RELATED INN [WHO_MedNet] synonym: "Acenocumarolo" RELATED [ChemIDplus] synonym: "Acenokumarin" RELATED [ChemIDplus] synonym: "Nicoumalone" RELATED [DrugBank] synonym: "Nicumalon" RELATED [DrugBank] synonym: "Nitrophenylacetylethyl-4-hydroxycoumarine" RELATED [DrugBank] synonym: "Nitrovarfarian" RELATED [DrugBank] synonym: "Nitrowarfarin" RELATED [DrugBank] xref: Beilstein:1269370 {source="Beilstein"} xref: CAS:152-72-7 {source="NIST Chemistry WebBook"} xref: CAS:152-72-7 {source="KEGG DRUG"} xref: CAS:152-72-7 {source="ChemIDplus"} xref: CAS:152-72-7 {source="DrugBank"} xref: ChEMBL:17275317 xref: ChemIDplus:152-72-7 xref: DrugBank:152-72-7 xref: DrugBank:DB01418 xref: KEGG DRUG:152-72-7 xref: KEGG DRUG:D07064 xref: KEGG:D07064 xref: LINCS:LSM-5112 xref: MeSH:D000074 xref: NCIt:C75152 xref: NIST Chemistry WebBook:152-72-7 xref: Patent:US2648682 xref: PMID:17275317 {source="ChEMBL"} xref: Reaxys:1269370 {source="Reaxys"} xref: SNOMEDCT:387457003 xref: SNOMEDCT:79356008 is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:50249 ! anticoagulant property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H15NO6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H15NO6/c1-11(21)10-15(12-6-8-13(9-7-12)20(24)25)17-18(22)14-4-2-3-5-16(14)26-19(17)23/h2-9,15,22H,10H2,1H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VABCILAOYCMVPS-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "353.32550" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "353.08994" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(=O)CC(c1ccc(cc1)[N+]([O-])=O)c1c(O)c2ccccc2oc1=O" xsd:string [Term] id: CHEBI:53784 name: antispasmodic drug namespace: chebi_ontology def: "A drug that suppresses spasms. These are usually caused by smooth muscle contraction, especially in tubular organs. The effect is to prevent spasms of the stomach, intestine or urinary bladder." [] subset: 3_STAR synonym: "antispasmodics" RELATED [ChEBI] xref: SNOMEDCT:373293005 xref: SNOMEDCT:8696009 is_a: CHEBI:23888 ! drug is_a: EFO:0001899 ! drug role [Term] id: CHEBI:5417 name: glucosamine namespace: chebi_ontology subset: 3_STAR synonym: "2-Amino-2-deoxy-glucose" RELATED [KEGG_COMPOUND] synonym: "2-amino-2-deoxyglucose" EXACT IUPAC_NAME [IUPAC] synonym: "GlcN" RELATED [JCBN] synonym: "Glucosamin" RELATED [ChEBI] synonym: "Glucosamine" EXACT [KEGG_COMPOUND] synonym: "glucosamine" EXACT IUPAC_NAME [IUPAC] synonym: "Glukosamin" RELATED [ChEBI] xref: DrugBank:DB01296 xref: KEGG COMPOUND:C01811 xref: KEGG:C01811 xref: MeSH:D005944 xref: NCIt:C83731 xref: SNOMEDCT:408111007 xref: SNOMEDCT:70237008 is_a: EFO:0004417 ! amide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H13NO5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "179.171" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "179.07937" xsd:string [Term] id: CHEBI:5441 name: glyburide namespace: chebi_ontology def: "An N-sulfonylurea that is acetohexamide in which the acetyl group is replaced by a 2-(5-chloro-2-methoxybenzamido)ethyl group." [] subset: 3_STAR synonym: "1-((p-(2-(5-chloro-o-anisamido)ethyl)phenyl)sulfonyl)-3-cyclohexylurea" RELATED [ChemIDplus] synonym: "1-(p-(2-(5-chloro-2-methoxybenzamido)ethyl)benzenesulfonyl)-3-cyclohexylurea" RELATED [ChemIDplus] synonym: "5-chloro-N-(2-(4-((((cyclohexylamino)carbonyl)amino)sulfonyl)phenyl)ethyl)-2-methoxybenzamide" RELATED [ChemIDplus] synonym: "5-chloro-N-(2-{4-[N-(N-cyclohexylcarbamoyl)sulfamoyl]phenyl}ethyl)-2-methoxybenzamide" EXACT IUPAC_NAME [IUPAC] synonym: "Diabeta" RELATED BRAND_NAME [KEGG_DRUG] synonym: "glibenclamida" RELATED INN [DrugBank] synonym: "glibenclamide" RELATED INN [WHO_MedNet] synonym: "glibenclamide" RELATED INN [KEGG_DRUG] synonym: "glibenclamidum" RELATED INN [DrugBank] synonym: "Glyburide" EXACT [KEGG_COMPOUND] synonym: "Glynase" RELATED BRAND_NAME [KEGG_DRUG] synonym: "Micronase" RELATED BRAND_NAME [KEGG_DRUG] xref: Beilstein:2230085 {source="Beilstein"} xref: CAS:10238-21-8 {source="ChemIDplus"} xref: CAS:10238-21-8 {source="KEGG COMPOUND"} xref: Drug_Central:1314 {source="DrugCentral"} xref: DrugBank:DB01016 xref: KEGG:C07022 xref: KEGG:D00336 xref: LINCS:LSM-2811 xref: Patent:NL6603398 xref: Patent:NL6610580 xref: Patent:US3454635 xref: PMID:16081479 {source="Europe PMC"} xref: PMID:20797618 {source="Europe PMC"} xref: Wikipedia:Glibenclamide is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C23H28ClN3O5S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C23H28ClN3O5S/c1-32-21-12-9-17(24)15-20(21)22(28)25-14-13-16-7-10-19(11-8-16)33(30,31)27-23(29)26-18-5-3-2-4-6-18/h7-12,15,18H,2-6,13-14H2,1H3,(H,25,28)(H2,26,27,29)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ZNNLBTZKUZBEKO-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "494.00400" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "493.14382" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "COc1ccc(Cl)cc1C(=O)NCCc1ccc(cc1)S(=O)(=O)NC(=O)NC1CCCCC1" xsd:string [Term] id: CHEBI:5457 name: glycerophosphoglycerol namespace: chebi_ontology def: "A glycerophosphoglycerol where both glycerol moieties are attached at primary positions." [] subset: 3_STAR synonym: "bis(2,3-dihydroxypropyl) hydrogen phosphate" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:1727736 {source="Beilstein"} xref: CAS:6418-92-4 {source="ChemIDplus"} xref: KEGG:C03274 xref: Reaxys:1727736 {source="Reaxys"} is_a: CHEBI:16247 ! phospholipid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H15O8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H15O8P/c7-1-5(9)3-13-15(11,12)14-4-6(10)2-8/h5-10H,1-4H2,(H,11,12)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LLCSXHMJULHSJN-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "246.15230" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "246.05045" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OCC(O)COP(O)(=O)OCC(O)CO" xsd:string [Term] id: CHEBI:545959 name: homovanillic acid namespace: chebi_ontology alt_id: CHEBI:5758 def: "A monocarboxylic acid that is the 3-O-methyl ether of (3,4-dihydroxyphenyl)acetic acid. It is a catecholamine metabolite." [] subset: 3_STAR synonym: "(4-hydroxy-3-methoxyphenyl)acetic acid" RELATED [IUPAC] synonym: "2-(4-hydroxy-3-methoxyphenyl)acetic acid" EXACT IUPAC_NAME [IUPAC] synonym: "3-Methoxy-4-hydroxyphenylacetate" RELATED [KEGG_COMPOUND] synonym: "3-Methoxy-4-hydroxyphenylacetic acid" RELATED [ChEBI] synonym: "4-Hydroxy-3-methoxybenzeneacetic acid" RELATED [ChEBI] synonym: "Homovanillic acid" EXACT [KEGG_COMPOUND] synonym: "HVA" RELATED [ChemIDplus] synonym: "Vanillacetic acid" RELATED [ChemIDplus] xref: CAS:306-08-1 {source="ChemIDplus"} xref: CAS:306-08-1 {source="KEGG COMPOUND"} xref: HMDB:HMDB0000118 xref: KEGG:C05582 xref: KNApSAcK:C00029504 xref: MetaCyc:CPD-7651 xref: PMID:14688447 {source="Europe PMC"} xref: PMID:24007816 {source="Europe PMC"} xref: PMID:24416192 {source="Europe PMC"} xref: PMID:24423636 {source="Europe PMC"} xref: PMID:8353435 {source="Europe PMC"} xref: Reaxys:2213447 {source="Reaxys"} xref: Wikipedia:Homovanillic_acid is_a: CHEBI:33853 ! phenols is_a: EFO:0004416 ! acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H10O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H10O4/c1-13-8-4-6(5-9(11)12)2-3-7(8)10/h2-4,10H,5H2,1H3,(H,11,12)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QRMZSPFSDQBLIX-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "182.17330" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "182.05791" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "COc1cc(CC(O)=O)ccc1O" xsd:string [Term] id: CHEBI:55329 name: 16-hydroxyhexadecanoate namespace: chebi_ontology def: "An omega-hydroxy-long-chain fatty acid anion that is the conjugate base of 16-hydroxyhexadecanoic acid (also known as 16-hydroxypalmitic acid or juniperic acid)." [] subset: 3_STAR synonym: "16-hydroxyhexadecanoate" EXACT [UniProt] synonym: "16-hydroxyhexadecanoate" EXACT IUPAC_NAME [IUPAC] synonym: "16-hydroxypalmitate" RELATED [ChEBI] xref: Beilstein:7346679 {source="Beilstein"} xref: Reaxys:7346679 {source="Reaxys"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C16H31O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C16H32O3/c17-15-13-11-9-7-5-3-1-2-4-6-8-10-12-14-16(18)19/h17H,1-15H2,(H,18,19)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UGAGPNKCDRTDHP-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "271.422" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "271.22787" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(CCCCCCCCCCO)CCCCC([O-])=O" xsd:string [Term] id: CHEBI:55379 name: camphorsulfonic acid namespace: chebi_ontology def: "A sulfonic acid containing the camphorsulfonate anion." [] subset: 3_STAR synonym: "(7,7-dimethyl-2-oxobicyclo[2.2.1]hept-1-yl)methanesulfonic acid" EXACT IUPAC_NAME [IUPAC] synonym: "10-CSA" RELATED [ChEBI] synonym: "2-Oxobornane-10-sulphonic acid" RELATED [ChemIDplus] synonym: "Camphersulfosaeure" RELATED [ChemIDplus] synonym: "CSA" RELATED [ChEBI] synonym: "Reychler's acid" RELATED [ChemIDplus] xref: Beilstein:2216194 {source="Beilstein"} xref: CAS:3144-16-9 {source="ChemIDplus"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H16O4S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H16O4S/c1-9(2)7-3-4-10(9,8(11)5-7)6-15(12,13)14/h7H,3-6H2,1-2H3,(H,12,13,14)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "MIOPJNTWMNEORI-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "232.29700" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "232.07693" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC1(C)C2CCC1(CS(O)(=O)=O)C(=O)C2" xsd:string [Term] id: CHEBI:55430 name: 1-O-hexadecyl-2-arachidonoyl-sn-glycero-3-phosphocholine namespace: chebi_ontology alt_id: CHEBI:75269 alt_id: CHEBI:86505 def: "A 1-O-alkyl-2-O-arachidonoyl-sn-glycero-3-phosphocholine where the alkyl group is specified as hexadecyl." [] subset: 3_STAR synonym: "(2R)-3-(hexadecyloxy)-2-[(5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoyloxy]propyl 2-(trimethylammonio)ethyl phosphate" EXACT IUPAC_NAME [IUPAC] synonym: "(2R)-3-(hexadecyloxy)-2-{[(5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoyl]oxy}propyl 2-(trimethylazaniumyl)ethyl phosphate" EXACT IUPAC_NAME [IUPAC] synonym: "1-hexadecyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphocholine" RELATED [LIPID_MAPS] synonym: "1-hexadecyl-2-arachidonoyl-sn-glycero-3-phosphocholine" RELATED [ChEBI] synonym: "1-O-hexadecyl-2-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-sn-glycero-3-phosphocholine" RELATED [SUBMITTER] synonym: "1-O-hexadecyl-2-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-sn-glycero-3-phosphocholine" RELATED [UniProt] synonym: "1-O-hexadecyl-2-(5Z,8Z,11Z,14Z)-icosatetraenoyl-sn-glycero-3-phosphocholine" RELATED [ChEBI] synonym: "1-O-hexadecyl-2-arachidonoyl-sn-glycero-3-phosphocholine" EXACT [SUBMITTER] synonym: "1-O-hexadecyl-2-arachidonoyl-sn-phosphatidylcholine" RELATED [SUBMITTER] synonym: "PC 1-O-16:0/20:4(n-6)" RELATED [SUBMITTER] synonym: "PC(O-16:0/20:4(5Z,8Z,11Z,14Z))" RELATED [LIPID_MAPS] synonym: "PC(O-16:0/20:4)" RELATED [LIPID_MAPS] xref: Beilstein:7242477 {source="Beilstein"} xref: CAS:86288-11-1 {source="ChemIDplus"} xref: LIPID_MAPS_instance:LMGP01020056 {source="LIPID MAPS"} xref: Reaxys:7242477 {source="Reaxys"} is_a: CHEBI:67064 ! phosphatidylcholine O-36:4 property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C44H82NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C44H82NO7P/c1-6-8-10-12-14-16-18-20-22-23-24-25-27-29-31-33-35-37-44(46)52-43(42-51-53(47,48)50-40-38-45(3,4)5)41-49-39-36-34-32-30-28-26-21-19-17-15-13-11-9-7-2/h14,16,20,22,24-25,29,31,43H,6-13,15,17-19,21,23,26-28,30,32-42H2,1-5H3/b16-14-,22-20-,25-24-,31-29-/t43-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DUUSFCFZBREELS-WWBBCYQPSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "768.100" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "767.58289" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "P(OC[C@@H](COCCCCCCCCCCCCCCCC)OC(CCC/C=C\\C/C=C\\C/C=C\\C/C=C\\CCCCC)=O)(=O)(OCC[N+](C)(C)C)[O-]" xsd:string [Term] id: CHEBI:55535 name: (R)-2-hydroxy-4-methylpentanoate namespace: chebi_ontology def: "The anion of (R)-2-hydroxy-4-methylpentanoic acid." [] subset: 3_STAR synonym: "(2R)-2-hydroxy-4-methylpentanoate" EXACT IUPAC_NAME [IUPAC] synonym: "(R)-2-hydroxy-4-methylpentanoate" EXACT [UniProt] synonym: "(R)-2-hydroxy-4-methylvalerate" RELATED [ChEBI] xref: Beilstein:5245806 {source="Beilstein"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H11O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H12O3/c1-4(2)3-5(7)6(8)9/h4-5,7H,3H2,1-2H3,(H,8,9)/p-1/t5-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LVRFTAZAXQPQHI-RXMQYKEDSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "131.14970" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "131.07137" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)C[C@@H](O)C([O-])=O" xsd:string [Term] id: CHEBI:556075 name: radicicol namespace: chebi_ontology alt_id: CHEBI:47650 alt_id: CHEBI:47652 alt_id: CHEBI:68728 def: "An antifungal macrolactone antibiotic, obtained from Diheterospora chlamydosporia and Chaetomium chiversii that inhibits protein tyrosine kinase and heat shock protein 90 (Hsp90)." [] subset: 3_STAR synonym: "(1aR,2Z,4E,14R,15aR)-8-chloro-9,11-dihydroxy-14-methyl-1a,14,15,15a-tetrahydro-6H-oxireno[e][2]benzoxacyclotetradecine-6,12(7H)-dione" EXACT IUPAC_NAME [IUPAC] synonym: "Monorden" RELATED [ChemIDplus] synonym: "RADICICOL" EXACT [PDBeChem] xref: CAS:12772-57-5 {source="ChemIDplus"} xref: ChemIDplus:12772-57-5 xref: DrugBank:DB03758 xref: MeSH:C035359 xref: NCIt:C1462 xref: PDBeChem:RDC xref: PMID:16232632 {source="Europe PMC"} xref: PMID:16920739 {source="Europe PMC"} xref: PMID:18667483 {source="Europe PMC"} xref: PMID:20093793 {source="Europe PMC"} xref: PMID:20961859 {source="Europe PMC"} xref: PMID:21800052 {source="Europe PMC"} xref: Reaxys:15865423 {source="Reaxys"} xref: Wikipedia:Radicicol is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:33853 ! phenols relationship: has_role CHEBI:33281 ! antimicrobial agent relationship: has_role CHEBI:35718 ! antifungal agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H17ClO6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H17ClO6/c1-9-6-15-14(25-15)5-3-2-4-10(20)7-11-16(18(23)24-9)12(21)8-13(22)17(11)19/h2-5,8-9,14-15,21-22H,6-7H2,1H3/b4-2+,5-3-/t9-,14-,15-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WYZWZEOGROVVHK-GTMNPGAYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "364.77700" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "364.07137" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[C@@H]1C[C@H]2O[C@@H]2\\C=C/C=C/C(=O)Cc2c(Cl)c(O)cc(O)c2C(=O)O1" xsd:string [Term] id: CHEBI:5613 name: haloperidol namespace: chebi_ontology def: "A compound composed of a central piperidine structure with hydroxy and p-chlorophenyl substituents at position 4 and an N-linked p-fluorobutyrophenone moiety." [] subset: 3_STAR synonym: "1-(3-p-fluorobenzoylpropyl)-4-p-chlorophenyl-4-hydroxypiperidine" RELATED [ChemIDplus] synonym: "4'-fluoro-4-(4-(p-chlorophenyl)-4-hydroxypiperidinyl)butyrophenone" RELATED [NIST_Chemistry_WebBook] synonym: "4'-fluoro-4-(4-hydroxy-4-(4'-chlorophenyl)piperidino)butyrophenone" RELATED [NIST_Chemistry_WebBook] synonym: "4-(4-(para-chlorophenyl)-4-hydroxypiperidino)-4'-fluorobutyrophenone" RELATED [NIST_Chemistry_WebBook] synonym: "4-[4-(4-chlorophenyl)-4-hydroxy-1-piperidyl]-1-(4-fluorophenyl)-butan-1-one" RELATED [IUPHAR] synonym: "4-[4-(4-chlorophenyl)-4-hydroxypiperidin-1-yl]-1-(4-fluorophenyl)butan-1-one" EXACT IUPAC_NAME [IUPAC] synonym: "gamma-(4-(p-chlorophenyl)-4-hydroxpiperidino)-p-fluorbutyrophenone" RELATED [NIST_Chemistry_WebBook] synonym: "Haldol" RELATED BRAND_NAME [KEGG_DRUG] synonym: "haloperidol" RELATED INN [KEGG_DRUG] synonym: "haloperidolum" RELATED INN [ChemIDplus] xref: Beilstein:331267 {source="Beilstein"} xref: CAS:52-86-8 {source="NIST Chemistry WebBook"} xref: CAS:52-86-8 {source="ChemIDplus"} xref: CAS:52-86-8 {source="KEGG COMPOUND"} xref: Drug_Central:1353 {source="DrugCentral"} xref: DrugBank:DB00502 xref: KEGG:C01814 xref: KEGG:D00136 xref: LINCS:LSM-3512 xref: MeSH:D006220 xref: NCIt:C537 xref: Patent:BE577977 xref: Patent:GB895309 xref: Patent:US3438991 xref: PMID:10628896 {source="Europe PMC"} xref: PMID:11304647 {source="Europe PMC"} xref: PMID:25007358 {source="Europe PMC"} xref: PMID:6725621 {source="Europe PMC"} xref: PMID:7602118 {source="Europe PMC"} xref: Reaxys:331267 {source="Reaxys"} xref: SNOMEDCT:10756001 xref: SNOMEDCT:386837002 xref: Wikipedia:Haloperidol is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:35476 ! antipsychotic agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C21H23ClFNO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C21H23ClFNO2/c22-18-7-5-17(6-8-18)21(26)11-14-24(15-12-21)13-1-2-20(25)16-3-9-19(23)10-4-16/h3-10,26H,1-2,11-15H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LNEPOXFFQSENCJ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "375.86400" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "375.14013" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC1(CCN(CCCC(=O)c2ccc(F)cc2)CC1)c1ccc(Cl)cc1" xsd:string [Term] id: CHEBI:5615 name: halothane namespace: chebi_ontology def: "A haloalkane comprising ethane having three flouro substituents at the 1-position as well as bromo- and chloro substituents at the 2-position." [] subset: 3_STAR synonym: "1,1,1-trifluoro-2-bromo-2-chloroethane" RELATED [NIST_Chemistry_WebBook] synonym: "1,1,1-trifluoro-2-chloro-2-bromoethane" RELATED [NIST_Chemistry_WebBook] synonym: "1-bromo-1-chloro-2,2,2-trifluoroethane" RELATED [NIST_Chemistry_WebBook] synonym: "2,2,2-trifluoro-1-chloro-1-bromoethane" RELATED [NIST_Chemistry_WebBook] synonym: "2-bromo-2-chloro-1,1,1-trifluoroethane" EXACT IUPAC_NAME [IUPAC] synonym: "2-bromo-2-chloro-1,1,1-trifluoroethane" RELATED [NIST_Chemistry_WebBook] synonym: "bromochlorotrifluoroethane" RELATED [NIST_Chemistry_WebBook] synonym: "Fluothane" RELATED [NIST_Chemistry_WebBook] synonym: "Halothane" EXACT [KEGG_COMPOUND] synonym: "Narcotane" RELATED [ChemIDplus] synonym: "Phthorothanum" RELATED [ChemIDplus] synonym: "Rhodialothan" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:1736947 {source="Beilstein"} xref: CAS:151-67-7 {source="KEGG COMPOUND"} xref: CAS:151-67-7 {source="NIST Chemistry WebBook"} xref: CAS:151-67-7 {source="ChemIDplus"} xref: Drug_Central:1356 {source="DrugCentral"} xref: DrugBank:DB01159 xref: Gmelin:793752 {source="Gmelin"} xref: KEGG:C07515 xref: KEGG:D00542 xref: MeSH:D006221 xref: NCIt:C47554 xref: PMID:7519986 {source="Europe PMC"} xref: SNOMEDCT:387351001 xref: SNOMEDCT:63682003 xref: VSDB:1806 xref: Wikipedia:Halothane is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:38870 ! inhalation anaesthetic property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C2HBrClF3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C2HBrClF3/c3-1(4)2(5,6)7/h1H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BCQZXOMGPXTTIC-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "197.38125" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "195.89022" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H]C(Cl)(Br)C(F)(F)F" xsd:string [Term] id: CHEBI:5692 name: hexachlorobenzene namespace: chebi_ontology def: "A member of the class of chlorobenzenes that is benzene in which all of the hydrogens are replaced by chlorines. An agricultural fungicide introduced in the mid-1940s and formerly used as a seed treatment, its use has been banned since 1984 under the Stockholm Convention on Persistent Organic Pollutants." [] subset: 3_STAR synonym: "1,2,3,4,5,6-hexachlorobenzene" RELATED [NIST_Chemistry_WebBook] synonym: "HCB" RELATED [ChemIDplus] synonym: "HCB" RELATED [KEGG_COMPOUND] synonym: "Hexachlorbenzol" RELATED [ChemIDplus] synonym: "Hexachlorobenzene" EXACT [KEGG_COMPOUND] synonym: "hexachlorobenzene" EXACT IUPAC_NAME [IUPAC] synonym: "perchlorobenzene" RELATED [ChemIDplus] synonym: "phenyl perchloryl" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:1912585 {source="Beilstein"} xref: CAS:118-74-1 {source="KEGG COMPOUND"} xref: CAS:118-74-1 {source="ChemIDplus"} xref: CAS:118-74-1 {source="NIST Chemistry WebBook"} xref: Gmelin:27278 {source="Gmelin"} xref: HMDB:HMDB0032566 xref: KEGG:C11042 xref: PMID:10641019 {source="Europe PMC"} xref: PMID:12117784 {source="Europe PMC"} xref: PMID:17150971 {source="Europe PMC"} xref: PMID:23336922 {source="Europe PMC"} xref: PMID:23462309 {source="Europe PMC"} xref: PMID:23627767 {source="Europe PMC"} xref: PMID:23747559 {source="Europe PMC"} xref: PMID:23923419 {source="Europe PMC"} xref: PMID:23973543 {source="Europe PMC"} xref: PMID:24148401 {source="Europe PMC"} xref: PMID:24311623 {source="Europe PMC"} xref: PMID:24365113 {source="Europe PMC"} xref: PPDB:380 xref: Reaxys:1912585 {source="Reaxys"} xref: Wikipedia:Hexachlorobenzene is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6Cl6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6Cl6/c7-1-2(8)4(10)6(12)5(11)3(1)9" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CKAPSXZOOQJIBF-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "284.78040" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "281.81312" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Clc1c(Cl)c(Cl)c(Cl)c(Cl)c1Cl" xsd:string [Term] id: CHEBI:57277 name: 3-(3-hydroxyphenyl)propanoate namespace: chebi_ontology def: "A monocarboxylic acid anion that is the conjugate base of 3-(3-hydroxyphenyl)propanoic acid." [] subset: 3_STAR synonym: "3-(3-hydroxyphenyl)propanoate" EXACT IUPAC_NAME [IUPAC] synonym: "3-(3-hydroxyphenyl)propanoate" EXACT [UniProt] synonym: "3-(3-hydroxyphenyl)propionate" RELATED [ChEBI] xref: HMDB:HMDB0000375 xref: MetaCyc:3-HYDROXYPHENYL-PROPIONATE is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H9O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H10O3/c10-8-3-1-2-7(6-8)4-5-9(11)12/h1-3,6,10H,4-5H2,(H,11,12)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QVWAEZJXDYOKEH-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "165.16600" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "165.05572" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Oc1cccc(CCC([O-])=O)c1" xsd:string [Term] id: CHEBI:57562 name: (R)-2-hydroxyoctadecanoate namespace: chebi_ontology def: "A 2-hydroxyoctadecanoate that has R configuration. The conjugate base of (R)-2-hydroxyoctadecanoic acid." [] subset: 3_STAR synonym: "(2R)-2-hydroxyoctadecanoate" EXACT IUPAC_NAME [IUPAC] synonym: "(R)-2-hydroxyoctadecanoate" EXACT [UniProt] synonym: "(R)-2-hydroxystearate" RELATED [ChEBI] is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H35O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H36O3/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17(19)18(20)21/h17,19H,2-16H2,1H3,(H,20,21)/p-1/t17-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KIHBGTRZFAVZRV-QGZVFWFLSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "299.469" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "299.25917" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(CCCCCCCC)CCCCCCC[C@H](C([O-])=O)O" xsd:string [Term] id: CHEBI:5757 name: homostachydrine namespace: chebi_ontology def: "An ammonium betaine that is pipecolic acid zwitterion with methyl groups substituted for the two hydrogens at the nitrogen. It is found in in fruits, seeds, and leaves of orange, lemon, and bergamot." [] subset: 3_STAR synonym: "1,1-dimethylpiperidinium-2-carboxylate" EXACT IUPAC_NAME [IUPAC] synonym: "pipecolic acid betaine" RELATED [ChEBI] xref: CAS:1195-94-4 {source="KEGG COMPOUND"} xref: KEGG:C08283 xref: KNApSAcK:C00001367 xref: Patent:US5972840 xref: PMID:22208890 {source="Europe PMC"} xref: Reaxys:4135110 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H15NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H15NO2/c1-9(2)6-4-3-5-7(9)8(10)11/h7H,3-6H2,1-2H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XULZWQRXYTVUTE-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "157.21020" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "157.11028" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[N+]1(C)CCCCC1C([O-])=O" xsd:string [Term] id: CHEBI:57987 name: 2-hydroxyadipate(2-) namespace: chebi_ontology def: "Dicarboxylate anion of 2-hydroxyadipic acid; major species at pH 7.3." [] subset: 3_STAR synonym: "2-hydroxyadipate" RELATED [UniProt] synonym: "2-hydroxyadipate dianion" RELATED [ChEBI] synonym: "2-hydroxyhexanedioate" EXACT IUPAC_NAME [IUPAC] synonym: "2-hydroxyhexanedioate dianion" RELATED [ChEBI] synonym: "2-hydroxyhexanedioate(2-)" RELATED [ChEBI] is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H8O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H10O5/c7-4(6(10)11)2-1-3-5(8)9/h4,7H,1-3H2,(H,8,9)(H,10,11)/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OTTXIFWBPRRYOG-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "160.12470" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "160.03827" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(CCCC([O-])=O)C([O-])=O" xsd:string [Term] id: CHEBI:57998 name: 3-phosphoglycerate(3-) namespace: chebi_ontology alt_id: CHEBI:88352 def: "Trianion of 3-phosphoglyceric acid arising from deprotonation of the carboxy and phosphate groups; major species at pH 7.3." [] subset: 3_STAR synonym: "3-phosphoglycerate" RELATED [UniProt] is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H4O7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H7O7P/c4-2(3(5)6)1-10-11(7,8)9/h2,4H,1H2,(H,5,6)(H2,7,8,9)/p-3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OSJPPGNTCRNQQC-UHFFFAOYSA-K" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "183.034" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "182.97111" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(C(COP(=O)([O-])[O-])O)([O-])=O" xsd:string [Term] id: CHEBI:58165 name: 3',5'-cyclic AMP(1-) namespace: chebi_ontology def: "An organophosphate oxoanion that is the conjugate base of 3',5'-cyclic AMP arising from deprotonation of the free phosphate OH group; major species at pH 7.3." [] subset: 3_STAR synonym: "3',5'-cyclic AMP" RELATED [UniProt] synonym: "3',5'-cyclic AMP anion" RELATED [ChEBI] synonym: "adenosine 3',5'-cyclic monophosphate" RELATED [ChEBI] synonym: "adenosine 3',5'-cyclic monophosphate anion" RELATED [ChEBI] synonym: "adenosine 3',5'-cyclic monophosphate(1-)" RELATED [ChEBI] synonym: "adenosine 3',5'-phosphate" EXACT IUPAC_NAME [IUPAC] xref: PMID:7870041 {source="Europe PMC"} xref: PMID:7870042 {source="Europe PMC"} xref: Reaxys:3720459 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H11N5O6P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H12N5O6P/c11-8-5-9(13-2-12-8)15(3-14-5)10-6(16)7-4(20-10)1-19-22(17,18)21-7/h2-4,6-7,10,16H,1H2,(H,17,18)(H2,11,12,13)/p-1/t4-,6-,7-,10-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IVOMOUWHDPKRLL-KQYNXXCUSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "328.19800" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "328.04524" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Nc1ncnc2n(cnc12)[C@@H]1O[C@@H]2COP([O-])(=O)O[C@H]2[C@H]1O" xsd:string [Term] id: CHEBI:5818 name: hydroxyzine namespace: chebi_ontology def: "A N-alkylpiperazine that is piperzine in which the nitrogens atoms are substituted by 2-(2-hydroxyethoxy)ethyl and (4-chlorophenyl)(phenyl)methyl groups respectively." [] subset: 3_STAR synonym: "2-(2-{4-[(4-chlorophenyl)(phenyl)methyl]piperazin-1-yl}ethoxy)ethanol" EXACT IUPAC_NAME [IUPAC] synonym: "hidroxizina" RELATED INN [ChemIDplus] synonym: "Hychotine" RELATED [ChemIDplus] synonym: "Hydroxine" RELATED [ChemIDplus] synonym: "Hydroxizine" RELATED [ChemIDplus] synonym: "Hydroxizinum" RELATED [ChemIDplus] synonym: "Hydroxycine" RELATED [ChemIDplus] synonym: "Hydroxyzin" RELATED [ChemIDplus] synonym: "Hydroxyzine" EXACT [KEGG_COMPOUND] synonym: "hydroxyzine" RELATED INN [ChemIDplus] synonym: "hydroxyzinum" RELATED INN [ChemIDplus] xref: Beilstein:321392 {source="Beilstein"} xref: CAS:68-88-2 {source="KEGG COMPOUND"} xref: CAS:68-88-2 {source="ChemIDplus"} xref: Drug_Central:1400 {source="DrugCentral"} xref: DrugBank:DB00557 xref: HMDB:HMDB0014697 xref: KEGG:C07045 xref: KEGG:D08054 xref: LINCS:LSM-5103 xref: Patent:US2899436 xref: PMID:15233966 {source="Europe PMC"} xref: PMID:19057127 {source="Europe PMC"} xref: PMID:19348661 {source="Europe PMC"} xref: Reaxys:321392 {source="Reaxys"} xref: VSDB:2977 xref: Wikipedia:Hydroxyzine is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C21H27ClN2O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C21H27ClN2O2/c22-20-8-6-19(7-9-20)21(18-4-2-1-3-5-18)24-12-10-23(11-13-24)14-16-26-17-15-25/h1-9,21,25H,10-17H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ZQDWXGKKHFNSQK-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "374.90406" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "374.17611" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OCCOCCN1CCN(CC1)C(c1ccccc1)c1ccc(Cl)cc1" xsd:string [Term] id: CHEBI:5832 name: hypaphorine namespace: chebi_ontology def: "An amino acid betaine obtaine by exhaustive methylation of the alpha-amino group of L-tryptophan with concomitant deprotonation of the carboxy group." [] subset: 3_STAR synonym: "(+)-Hypaphorine" RELATED [ChemIDplus] synonym: "(2S)-3-(1H-indol-3-yl)-2-(trimethylazaniumyl)propanoate" EXACT IUPAC_NAME [IUPAC] synonym: "Glyyunnanenine" RELATED [ChemIDplus] synonym: "Hypaphorine" EXACT [KEGG_COMPOUND] synonym: "L-Hypaphorine" RELATED [ChemIDplus] synonym: "L-tryptophan betaine" RELATED [ChEBI] synonym: "Lenticin" RELATED [KEGG_COMPOUND] synonym: "N,N,N-trimethyltryptophan betaine" RELATED [ChEBI] synonym: "Tryptophan betaine" RELATED [ChemIDplus] xref: AGR:IND20800355 {source="Europe PMC"} xref: CAS:487-58-1 {source="ChemIDplus"} xref: CAS:487-58-1 {source="KEGG COMPOUND"} xref: HMDB:HMDB0061115 xref: KEGG:C09213 xref: KNApSAcK:C00001740 xref: PMID:10659705 {source="Europe PMC"} xref: PMID:11089686 {source="Europe PMC"} xref: PMID:11676477 {source="Europe PMC"} xref: PMID:12056802 {source="Europe PMC"} xref: PMID:12236599 {source="Europe PMC"} xref: PMID:12710900 {source="Europe PMC"} xref: PMID:14504925 {source="Europe PMC"} xref: PMID:15032848 {source="Europe PMC"} xref: PMID:16547865 {source="Europe PMC"} xref: PMID:17370110 {source="Europe PMC"} xref: PMID:18404567 {source="Europe PMC"} xref: PMID:18571406 {source="Europe PMC"} xref: PMID:18968328 {source="Europe PMC"} xref: PMID:23855762 {source="Europe PMC"} xref: PMID:5348524 {source="Europe PMC"} xref: PMID:9951730 {source="Europe PMC"} xref: Reaxys:3558356 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C14H18N2O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C14H18N2O2/c1-16(2,3)13(14(17)18)8-10-9-15-12-7-5-4-6-11(10)12/h4-7,9,13,15H,8H2,1-3H3/t13-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "AOHCBEAZXHZMOR-ZDUSSCGKSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "246.305" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "246.13683" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C1(=CNC2=C1C=CC=C2)C[C@@H](C(=O)[O-])[N+](C)(C)C" xsd:string [Term] id: CHEBI:58386 name: (S)-2-hydroxyoctadecanoate namespace: chebi_ontology def: "A 2-hydroxyoctadecanoate that has S configuration. The conjugate base of (S)-2-hydroxystearic acid obtained via deprotonation of the carboxy group; major species at pH 7.3." [] subset: 3_STAR synonym: "(2S)-2-hydroxyoctadecanoate" EXACT IUPAC_NAME [IUPAC] synonym: "(S)-2-hydroxyoctadecanoate" EXACT [ChEBI] synonym: "(S)-2-hydroxyoctadecanoate" EXACT [UniProt] synonym: "(S)-2-hydroxyoctadecanoate anion" RELATED [ChEBI] synonym: "(S)-2-hydroxyoctadecanoic acid anion" RELATED [ChEBI] synonym: "(S)-2-hydroxystearate" RELATED [ChEBI] synonym: "(S)-2-hydroxystearate anion" RELATED [ChEBI] is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H35O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H36O3/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17(19)18(20)21/h17,19H,2-16H2,1H3,(H,20,21)/p-1/t17-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KIHBGTRZFAVZRV-KRWDZBQOSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "299.469" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "299.25917" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(CCCCCCCC)CCCCCCC[C@@H](C([O-])=O)O" xsd:string [Term] id: CHEBI:58454 name: kynurenate namespace: chebi_ontology alt_id: CHEBI:24991 def: "A quinolinemonocarboxylate that is the conjugate base of kynurenic acid" [] subset: 3_STAR synonym: "4-hydroxyquinoline-2-carboxylate" EXACT IUPAC_NAME [IUPAC] synonym: "kynurenate" EXACT [UniProt] is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H6NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H7NO3/c12-9-5-8(10(13)14)11-7-4-2-1-3-6(7)9/h1-5H,(H,11,12)(H,13,14)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HCZHHEIFKROPDY-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "188.15950" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "188.03532" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Oc1cc(nc2ccccc12)C([O-])=O" xsd:string [Term] id: CHEBI:5855 name: ibuprofen namespace: chebi_ontology def: "A monocarboxylic acid that is propionic acid in which one of the hydrogens at position 2 is substituted by a 4-(2-methylpropyl)phenyl group." [] subset: 3_STAR synonym: "(+-)-2-(p-isobutylphenyl)propionic acid" RELATED [ChemIDplus] synonym: "(+-)-alpha-methyl-4-(2-methylpropyl)benzeneacetic acid" RELATED [ChemIDplus] synonym: "(+-)-ibuprofen" RELATED [ChemIDplus] synonym: "(+-)-p-isobutylhydratropic acid" RELATED [ChemIDplus] synonym: "(4-isobutylphenyl)-alpha-methylacetic acid" RELATED [ChemIDplus] synonym: "(RS)-ibuprofen" RELATED [ChemIDplus] synonym: "2-(4-isobutylphenyl)propanoic acid" RELATED [NIST_Chemistry_WebBook] synonym: "2-[4-(2-methylpropyl)phenyl]propanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "4-isobutylhydratropic acid" RELATED [ChemIDplus] synonym: "Adran" RELATED BRAND_NAME [DrugBank] synonym: "Advil" RELATED BRAND_NAME [DrugBank] synonym: "alpha-(4-isobutylphenyl)propionic acid" RELATED [NIST_Chemistry_WebBook] synonym: "alpha-(p-isobutylphenyl)propionic acid" RELATED [NIST_Chemistry_WebBook] synonym: "Amibufen" RELATED BRAND_NAME [DrugBank] synonym: "Anco" RELATED BRAND_NAME [DrugBank] synonym: "Anflagen" RELATED BRAND_NAME [DrugBank] synonym: "Apsifen" RELATED BRAND_NAME [DrugBank] synonym: "Bluton" RELATED BRAND_NAME [DrugBank] synonym: "Brufen" RELATED BRAND_NAME [DrugBank] synonym: "Brufort" RELATED BRAND_NAME [DrugBank] synonym: "Buburone" RELATED BRAND_NAME [DrugBank] synonym: "Butylenin" RELATED BRAND_NAME [DrugBank] synonym: "Dolgin" RELATED BRAND_NAME [DrugBank] synonym: "Dolgirid" RELATED BRAND_NAME [DrugBank] synonym: "Dolgit" RELATED BRAND_NAME [DrugBank] synonym: "Dolo-Dolgit" RELATED BRAND_NAME [DrugBank] synonym: "Ebufac" RELATED BRAND_NAME [DrugBank] synonym: "Epobron" RELATED BRAND_NAME [DrugBank] synonym: "Femadon" RELATED BRAND_NAME [DrugBank] synonym: "Haltran" RELATED BRAND_NAME [DrugBank] synonym: "Ibu-Attritin" RELATED BRAND_NAME [DrugBank] synonym: "Ibumetin" RELATED BRAND_NAME [DrugBank] synonym: "Ibuprocin" RELATED BRAND_NAME [DrugBank] synonym: "Ibuprofen" EXACT [KEGG_COMPOUND] synonym: "Ibutid" RELATED BRAND_NAME [DrugBank] synonym: "Inabrin" RELATED BRAND_NAME [DrugBank] synonym: "Inoven" RELATED BRAND_NAME [DrugBank] synonym: "Lamidon" RELATED BRAND_NAME [DrugBank] synonym: "Lebrufen" RELATED BRAND_NAME [DrugBank] synonym: "Liptan" RELATED BRAND_NAME [DrugBank] synonym: "Medipren" RELATED BRAND_NAME [DrugBank] synonym: "Motrin" RELATED [ChemIDplus] synonym: "Motrin" RELATED BRAND_NAME [DrugBank] synonym: "Mynosedin" RELATED BRAND_NAME [DrugBank] synonym: "Nobfen" RELATED BRAND_NAME [DrugBank] synonym: "Nobgen" RELATED BRAND_NAME [DrugBank] synonym: "Nuprin" RELATED BRAND_NAME [DrugBank] synonym: "Nurofen" RELATED BRAND_NAME [DrugBank] synonym: "Pediaprofen" RELATED BRAND_NAME [DrugBank] synonym: "Roidenin" RELATED BRAND_NAME [DrugBank] synonym: "Rufen" RELATED BRAND_NAME [DrugBank] synonym: "Seclodin" RELATED BRAND_NAME [DrugBank] synonym: "Suspren" RELATED BRAND_NAME [DrugBank] synonym: "Tabalon" RELATED BRAND_NAME [DrugBank] synonym: "Trendar" RELATED BRAND_NAME [DrugBank] synonym: "Urem" RELATED BRAND_NAME [DrugBank] xref: Beilstein:2049713 {source="ChemIDplus"} xref: CAS:15687-27-1 {source="NIST Chemistry WebBook"} xref: CAS:15687-27-1 {source="ChemIDplus"} xref: CAS:15687-27-1 {source="KEGG COMPOUND"} xref: Drug_Central:1407 {source="DrugCentral"} xref: DrugBank:DB01050 xref: HMDB:HMDB0001925 xref: KEGG:C01588 xref: KEGG:D00126 xref: LINCS:LSM-1354 xref: Patent:GB971700 xref: Patent:US3228831 xref: Patent:US3385886 xref: Patent:US5215755 xref: Patent:US6727286 xref: PMID:11433218 {source="Europe PMC"} xref: PMID:12723739 {source="Europe PMC"} xref: PMID:14562167 {source="Europe PMC"} xref: PMID:15506544 {source="Europe PMC"} xref: PMID:16176022 {source="Europe PMC"} xref: PMID:18335846 {source="Europe PMC"} xref: PMID:18697608 {source="Europe PMC"} xref: PMID:21368281 {source="Europe PMC"} xref: PMID:24168233 {source="Europe PMC"} xref: PMID:25521617 {source="Europe PMC"} xref: PMID:25708941 {source="Europe PMC"} xref: PMID:25915907 {source="Europe PMC"} xref: PMID:29756342 {source="Europe PMC"} xref: Reaxys:2049713 {source="Reaxys"} xref: Wikipedia:Ibuprofen is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C13H18O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C13H18O2/c1-9(2)8-11-4-6-12(7-5-11)10(3)13(14)15/h4-7,9-10H,8H2,1-3H3,(H,14,15)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HEFNNWSXXWATRW-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "206.28082" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "206.13068" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)Cc1ccc(cc1)C(C)C(O)=O" xsd:string [Term] id: CHEBI:585948 name: felodipine namespace: chebi_ontology alt_id: CHEBI:49383 alt_id: CHEBI:4996 def: "The mixed (methyl, ethyl) diester of 4-(2,3-dichlorophenyl)-2,6-dimethyl-1,4-dihydropyridine-3,5-dicarboxylic acid. A calcium-channel blocker, it lowers blood pressure by reducing peripheral vascular resistance through a highly selective action on smooth muscle in arteriolar resistance vessels. It is used in the management of hypertension and angina pectoris." [] subset: 3_STAR synonym: "(+-)-ethyl methyl 4-(2,3-dichlorophenyl)-1,4-dihydro-2,6-dimethyl-3,5-pyridinedicarboxylate" RELATED [ChemIDplus] synonym: "3-ethyl 5-methyl 4-(2,3-dichlorophenyl)-2,6-dimethyl-1,4-dihydro-3,5-pyridinedicarboxylate" RELATED [NIST_Chemistry_WebBook] synonym: "4-(2,3-dichlorophenyl)-1,4-dihydro-2,6-dimethyl-3,5-pyridinedicarboxylic acid ethyl methyl ester" RELATED [ChEBI] synonym: "ethyl methyl 4-(2,3-dichlorophenyl)-2,6-dimethyl-1,4-dihydropyridine-3,5-dicarboxylate" EXACT IUPAC_NAME [IUPAC] synonym: "felodipina" RELATED INN [ChemIDplus] synonym: "FELODIPINE" EXACT [PDBeChem] synonym: "felodipine" RELATED INN [ChemIDplus] synonym: "felodipinum" RELATED INN [ChemIDplus] xref: CAS:72509-76-3 {source="KEGG DRUG"} xref: CAS:72509-76-3 {source="ChemIDplus"} xref: CAS:72509-76-3 {source="NIST Chemistry WebBook"} xref: Drug_Central:1142 {source="DrugCentral"} xref: DrugBank:DB01023 xref: KEGG:D00319 xref: LINCS:LSM-1447 xref: Patent:EP7293 xref: Patent:US4264611 xref: PDBeChem:225 xref: PMID:18457386 {source="ChEMBL"} xref: Reaxys:4331472 {source="Reaxys"} xref: Wikipedia:Felodipine is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H19Cl2NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H19Cl2NO4/c1-5-25-18(23)14-10(3)21-9(2)13(17(22)24-4)15(14)11-7-6-8-12(19)16(11)20/h6-8,15,21H,5H2,1-4H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RZTAMFZIAATZDJ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "384.25400" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "383.06911" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCOC(=O)C1=C(C)NC(C)=C(C1c1cccc(Cl)c1Cl)C(=O)OC" xsd:string [Term] id: CHEBI:5870 name: imidacloprid namespace: chebi_ontology def: "An imidazolidine that is N-nitroimidazolidin-2-imine bearing a (6-chloro-3-pyridinyl)methyl substituent at position 1." [] subset: 3_STAR synonym: "1-((6-chloro-3-pyridinyl)methyl)-N-nitro-2-imidazolidinimine" RELATED [ChemIDplus] synonym: "1-((6-chloro-3-pyridyl)methyl)-N-nitro-2-imidazolidinimine" RELATED [ChemIDplus] synonym: "1-[(6-chloropyridin-3-yl)methyl]-N-nitroimidazolidin-2-imine" EXACT IUPAC_NAME [IUPAC] synonym: "IMD" RELATED [ChEBI] synonym: "Imidacloprid" EXACT [KEGG_COMPOUND] xref: Beilstein:5444268 {source="Beilstein"} xref: CAS:105827-78-9 {source="ChemIDplus"} xref: CAS:138261-41-3 {source="ChemIDplus"} xref: CAS:138261-41-3 {source="KEGG COMPOUND"} xref: KEGG:C11110 xref: Patent:EP192060 xref: Patent:US4742060 xref: Pesticides:imidacloprid {source="Alan Wood's Pesticides"} xref: PMID:11502148 {source="Europe PMC"} xref: PMID:11673842 {source="Europe PMC"} xref: PMID:11699773 {source="Europe PMC"} xref: PMID:11872245 {source="Europe PMC"} xref: PMID:12146171 {source="Europe PMC"} xref: PMID:12720336 {source="Europe PMC"} xref: PMID:14690387 {source="Europe PMC"} xref: PMID:14747770 {source="Europe PMC"} xref: PMID:15154510 {source="Europe PMC"} xref: PMID:15212911 {source="Europe PMC"} xref: PMID:15246549 {source="Europe PMC"} xref: PMID:15922528 {source="Europe PMC"} xref: PMID:16156564 {source="Europe PMC"} xref: PMID:16160767 {source="Europe PMC"} xref: PMID:16406588 {source="Europe PMC"} xref: PMID:16453147 {source="Europe PMC"} xref: PMID:16539142 {source="Europe PMC"} xref: PMID:16690142 {source="Europe PMC"} xref: PMID:16845714 {source="Europe PMC"} xref: PMID:18069649 {source="Europe PMC"} xref: PMID:18188485 {source="Europe PMC"} xref: PMID:18190949 {source="Europe PMC"} xref: PMID:18348816 {source="Europe PMC"} xref: PMID:18924117 {source="Europe PMC"} xref: PMID:18973940 {source="Europe PMC"} xref: PMID:18977458 {source="Europe PMC"} xref: PMID:19916392 {source="Europe PMC"} xref: PMID:19962320 {source="Europe PMC"} xref: PMID:22022787 {source="Europe PMC"} xref: PMID:22083888 {source="Europe PMC"} xref: PMID:22119037 {source="Europe PMC"} xref: PMID:22200056 {source="Europe PMC"} xref: PMID:22224401 {source="Europe PMC"} xref: PMID:22228315 {source="Europe PMC"} xref: PMID:22290795 {source="Europe PMC"} xref: PMID:22370410 {source="Europe PMC"} xref: PMID:22375594 {source="Europe PMC"} xref: PMID:22375595 {source="Europe PMC"} xref: PMID:22395200 {source="Europe PMC"} xref: PMID:22398690 {source="Europe PMC"} xref: PMID:22420257 {source="Europe PMC"} xref: PMID:22447470 {source="Europe PMC"} xref: PMID:22459587 {source="Europe PMC"} xref: PMID:22461500 {source="Europe PMC"} xref: PMID:24515672 {source="Europe PMC"} xref: PMID:25155403 {source="Europe PMC"} xref: PMID:25314907 {source="Europe PMC"} xref: PMID:25342464 {source="Europe PMC"} xref: PMID:25467410 {source="Europe PMC"} xref: PMID:25492586 {source="Europe PMC"} xref: PMID:25557105 {source="Europe PMC"} xref: PMID:25597673 {source="Europe PMC"} xref: PMID:25607931 {source="Europe PMC"} xref: PMID:25612154 {source="Europe PMC"} xref: PMID:25618634 {source="Europe PMC"} xref: PMID:25666568 {source="Europe PMC"} xref: PMID:25755197 {source="Europe PMC"} xref: PMID:25799432 {source="Europe PMC"} xref: PMID:25826181 {source="Europe PMC"} xref: PMID:25837412 {source="Europe PMC"} xref: PMID:25840341 {source="Europe PMC"} xref: PMID:34634905 {source="Europe PMC"} xref: Reaxys:5444268 {source="Reaxys"} xref: Wikipedia:Imidacloprid is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H10ClN5O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H10ClN5O2/c10-8-2-1-7(5-12-8)6-14-4-3-11-9(14)13-15(16)17/h1-2,5H,3-4,6H2,(H,11,13)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YWTYJOPNNQFBPC-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "255.66100" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "255.05230" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-][N+](=O)N=C1NCCN1Cc1ccc(Cl)nc1" xsd:string [Term] id: CHEBI:58875 name: hyodeoxycholate namespace: chebi_ontology def: "A bile acid anion that is the conjugate base of hyodeoxycholic acid." [] subset: 3_STAR synonym: "(3alpha,5beta,6alpha)-3,6-dihydroxycholan-24-oate" RELATED [ChEBI] synonym: "3alpha,6alpha-dihydroxy-5beta-cholan-24-oate" EXACT IUPAC_NAME [IUPAC] synonym: "hyodeoxycholate" EXACT [UniProt] xref: Beilstein:5619593 {source="Beilstein"} xref: MetaCyc:CPD-7284 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C24H39O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C24H40O4/c1-14(4-7-22(27)28)17-5-6-18-16-13-21(26)20-12-15(25)8-10-24(20,3)19(16)9-11-23(17,18)2/h14-21,25-26H,4-13H2,1-3H3,(H,27,28)/p-1/t14-,15-,16+,17-,18+,19+,20+,21+,23-,24-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DGABKXLVXPYZII-SIBKNCMHSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "391.56410" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "391.28538" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]1(CC[C@@]2([H])[C@]3([H])C[C@H](O)[C@]4([H])C[C@H](O)CC[C@]4(C)[C@@]3([H])CC[C@]12C)[C@H](C)CCC([O-])=O" xsd:string [Term] id: CHEBI:58877 name: glycochenodeoxycholate 7-sulfate(2-) namespace: chebi_ontology def: "A steroid sulfate oxoanion obtained by deprotonation of the carboxylic acid and sulfate functions of glycochenodeoxycholic acid 7-sulfate." [] subset: 3_STAR synonym: "glycochenodeoxycholate 7-sulfate" RELATED [UniProt] synonym: "glycochenodeoxycholate sulfate" RELATED [ChEBI] synonym: "N-[3alpha-hydroxy-24-oxo-7alpha-(sulfonatooxy)-5beta-cholan-24-yl]glycinate" EXACT IUPAC_NAME [IUPAC] is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C26H41NO8S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C26H43NO8S/c1-15(4-7-22(29)27-14-23(30)31)18-5-6-19-24-20(9-11-26(18,19)3)25(2)10-8-17(28)12-16(25)13-21(24)35-36(32,33)34/h15-21,24,28H,4-14H2,1-3H3,(H,27,29)(H,30,31)(H,32,33,34)/p-2/t15-,16+,17-,18-,19+,20+,21-,24+,25+,26-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GLYPHOJMMLQNJQ-GYPHWSFCSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "527.67100" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "527.25639" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12C[C@H](O)CC[C@]1(C)[C@@]1([H])CC[C@]3(C)[C@]([H])(CC[C@@]3([H])[C@]1([H])[C@@H](C2)OS([O-])(=O)=O)[C@H](C)CCC(=O)NCC([O-])=O" xsd:string [Term] id: CHEBI:58994 name: (+)-catechin monohydrate namespace: chebi_ontology def: "The monohydrate of (+)-catechin." [] subset: 3_STAR synonym: "(+)-catechin hydrate" RELATED [ChEBI] synonym: "(2R,3S)-2-(3,4-dihydroxyphenyl)chromane-3,5,7-triol--water (1/1)" EXACT IUPAC_NAME [IUPAC] synonym: "(2R-trans)-2-(3,4-Dihydroxyphenyl)-3,4-dihydro-2H-1-benzopyran-3,5,7-triol monohydrate" RELATED [ChemIDplus] synonym: "Catechin hydrate" RELATED [ChEBI] xref: CAS:88191-48-4 {source="ChemIDplus"} xref: ChemIDplus:88191-48-4 "CAS Registry Number" xref: Chemspider:97077 xref: CiteXplore:10651166 "PubMed citation" xref: PMID:10651166 {source="Europe PMC"} xref: PMID:19501612 {source="Europe PMC"} xref: PMID:24048981 {source="Europe PMC"} xref: PMID:24266106 {source="Europe PMC"} xref: PMID:24825545 {source="Europe PMC"} xref: PMID:25218093 {source="Europe PMC"} xref: PMID:26653744 {source="Europe PMC"} xref: PMID:29458270 {source="Europe PMC"} xref: PMID:29604256 {source="Europe PMC"} xref: PMID:32613640 {source="Europe PMC"} is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:22586 ! antioxidant property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C15H16O7" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C15H14O6.H2O/c16-8-4-11(18)9-6-13(20)15(21-14(9)5-8)7-1-2-10(17)12(19)3-7;/h1-5,13,15-20H,6H2;1H2/t13-,15+;/m0./s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OFUMQWOJBVNKLR-NQQJLSKUSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "308.28330" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "308.08960" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O.O[C@H]1Cc2c(O)cc(O)cc2O[C@@H]1c1ccc(O)c(O)c1" xsd:string [Term] id: CHEBI:59163 name: biomarker namespace: chebi_ontology def: "A substance used as an indicator of a biological state." [] subset: 3_STAR synonym: "biological marker" RELATED [ChEBI] xref: NCIt:C16342 is_a: CHEBI:33232 ! application [Term] id: CHEBI:59219 name: ceruletide namespace: chebi_ontology def: "A decapeptide comprising 5-oxoprolyl, glutamyl, aspartyl, O-sulfotyrosyl, threonyl, glycyl, tryptopyl, methionyl, aspartyl and phenylalaninamide residues in sequence. Found in the skins of certain Australian amphibians, it is an analogue of the gastrointestinal peptide hormone cholecystokinin and stimulates gastric, biliary, and pancreatic secretion. It is used in cases of paralysis of the intestine (paralytic ileus) and as a diagnostic aid in pancreatic malfunction." [] subset: 3_STAR synonym: "5-oxo-L-prolyl-L-glutaminyl-L-alpha-aspartyl-O-sulfo-L-tyrosyl-L-threonylglycyl-L-tryptophyl-L-methionyl-L-alpha-aspartyl-L-phenylalaninamide" EXACT IUPAC_NAME [IUPAC] synonym: "caerulein" RELATED [ChemIDplus] synonym: "cerulein" RELATED [ChEBI] synonym: "ceruletida" RELATED INN [ChemIDplus] synonym: "ceruletide" RELATED INN [ChemIDplus] synonym: "ceruletidum" RELATED INN [ChemIDplus] xref: Beilstein:5422487 {source="Beilstein"} xref: CAS:17650-98-5 {source="ChemIDplus"} xref: Drug_Central:579 {source="DrugCentral"} xref: DrugBank:DB00403 xref: KEGG:D03442 xref: Wikipedia:Ceruletide is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C58H73N13O21S2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C58H73N13O21S2/c1-29(72)49(71-57(87)40(23-31-12-14-33(15-13-31)92-94(89,90)91)68-56(86)43(26-48(78)79)69-52(82)37(16-18-44(59)73)65-51(81)36-17-19-45(74)63-36)58(88)62-28-46(75)64-41(24-32-27-61-35-11-7-6-10-34(32)35)54(84)66-38(20-21-93-2)53(83)70-42(25-47(76)77)55(85)67-39(50(60)80)22-30-8-4-3-5-9-30/h3-15,27,29,36-43,49,61,72H,16-26,28H2,1-2H3,(H2,59,73)(H2,60,80)(H,62,88)(H,63,74)(H,64,75)(H,65,81)(H,66,84)(H,67,85)(H,68,86)(H,69,82)(H,70,83)(H,71,87)(H,76,77)(H,78,79)(H,89,90,91)/t29-,36+,37+,38+,39+,40+,41+,42+,43+,49+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YRALAIOMGQZKOW-HYAOXDFASA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "1352.40500" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "1351.44854" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@](NC(=O)[C@H](Cc1ccc(OS(O)(=O)=O)cc1)NC(=O)[C@H](CC(O)=O)NC(=O)[C@H](CCC(N)=O)NC(=O)[C@@H]1CCC(=O)N1)([C@@H](C)O)C(=O)NCC(=O)N[C@@H](Cc1c[nH]c2ccccc12)C(=O)N[C@@H](CCSC)C(=O)N[C@@H](CC(O)=O)C(=O)N[C@@H](Cc1ccccc1)C(N)=O" xsd:string [Term] id: CHEBI:5931 name: insulin (human) namespace: chebi_ontology def: "An insulin that is produced in the pancreas and involved in regulating the metabolism of carbohydrates (particularly glucose) and fats. Commonly thought of as a protein, it consists of two peptide chains, one containing 21 amino acid residues and the other containing 30; the chains are joined together by 2 disulfide bonds. Recombinant insulin is identical to human insulin, but is synthesised by inserting the human insulin gene into E. coli, which then produces insulin for human use. It is used in the treatment of type I and type II diabetes." [] subset: 3_STAR synonym: "Exubera" RELATED BRAND_NAME [ChEBI] synonym: "human insulin" RELATED [ChEBI] synonym: "Insulin" RELATED [KEGG_COMPOUND] synonym: "insulin (recombinant)" RELATED [ChEBI] synonym: "insulin human" RELATED INN [WHO_MedNet] synonym: "Insulin recombinant" RELATED [DrugBank] synonym: "insulina humana" RELATED INN [WHO_MedNet] synonym: "insuline humaine" RELATED INN [WHO_MedNet] synonym: "insulinum humanum" RELATED INN [WHO_MedNet] xref: CAS:11061-68-0 {source="ChemIDplus"} xref: CHEBI:5931 xref: DrugBank:DB00030 xref: KEGG:C00723 xref: KEGG:D00085 xref: MeSH:D007328 xref: NCIt:C2271 xref: PMID:22249812 {source="Europe PMC"} xref: PMID:22617471 {source="Europe PMC"} xref: PMID:22715632 {source="Europe PMC"} xref: PMID:22843207 {source="Europe PMC"} xref: PMID:31301295 {source="Europe PMC"} xref: PMID:31821343 {source="Europe PMC"} xref: PMID:31876563 {source="Europe PMC"} xref: PMID:32208558 {source="Europe PMC"} xref: PMID:32398693 {source="Europe PMC"} xref: PMID:32629793 {source="Europe PMC"} xref: PMID:32797824 {source="Europe PMC"} xref: PMID:8019699 {source="Europe PMC"} xref: SNOMEDCT:67866001 is_a: CHEBI:24431 ! chemical entity relationship: has_role EFO:0001824 ! hormone role relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C257H383N65O77S6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C257H383N65O77S6/c1-29-131(23)205(313-193(339)104-259)252(393)317-204(130(21)22)248(389)288-159(75-82-200(349)350)217(358)282-156(71-78-189(263)335)221(362)308-183-116-403-404-117-184-243(384)305-178(111-324)240(381)294-162(88-123(7)8)225(366)295-168(95-140-53-61-146(329)62-54-140)228(369)283-154(69-76-187(261)333)218(359)290-161(87-122(5)6)223(364)285-158(74-81-199(347)348)220(361)302-174(101-190(264)336)235(376)298-170(97-142-57-65-148(331)66-58-142)231(372)309-182(242(383)304-176(255(396)397)103-192(266)338)115-402-401-114-181(214(355)273-107-194(340)278-153(72-79-197(343)344)216(357)281-151(51-42-84-271-257(267)268)212(353)272-108-195(341)279-166(93-138-46-36-32-37-47-138)227(368)297-167(94-139-48-38-33-39-49-139)230(371)299-171(98-143-59-67-149(332)68-60-143)238(379)320-208(135(27)327)254(395)322-85-43-52-186(322)246(387)286-152(50-40-41-83-258)222(363)321-209(136(28)328)256(398)399)311-250(391)203(129(19)20)316-236(377)164(90-125(11)12)292-229(370)169(96-141-55-63-147(330)64-56-141)296-224(365)160(86-121(3)4)289-210(351)133(25)277-215(356)157(73-80-198(345)346)287-247(388)202(128(17)18)315-237(378)165(91-126(13)14)293-233(374)173(100-145-106-270-120-276-145)301-239(380)177(110-323)280-196(342)109-274-213(354)180(113-400-405-118-185(310-244(183)385)245(386)319-207(134(26)326)253(394)306-179(112-325)241(382)318-206(132(24)30-2)251(392)312-184)307-226(367)163(89-124(9)10)291-232(373)172(99-144-105-269-119-275-144)300-219(360)155(70-77-188(262)334)284-234(375)175(102-191(265)337)303-249(390)201(127(15)16)314-211(352)150(260)92-137-44-34-31-35-45-137/h31-39,44-49,53-68,105-106,119-136,150-186,201-209,323-332H,29-30,40-43,50-52,69-104,107-118,258-260H2,1-28H3,(H2,261,333)(H2,262,334)(H2,263,335)(H2,264,336)(H2,265,337)(H2,266,338)(H,269,275)(H,270,276)(H,272,353)(H,273,355)(H,274,354)(H,277,356)(H,278,340)(H,279,341)(H,280,342)(H,281,357)(H,282,358)(H,283,369)(H,284,375)(H,285,364)(H,286,387)(H,287,388)(H,288,389)(H,289,351)(H,290,359)(H,291,373)(H,292,370)(H,293,374)(H,294,381)(H,295,366)(H,296,365)(H,297,368)(H,298,376)(H,299,371)(H,300,360)(H,301,380)(H,302,361)(H,303,390)(H,304,383)(H,305,384)(H,306,394)(H,307,367)(H,308,362)(H,309,372)(H,310,385)(H,311,391)(H,312,392)(H,313,339)(H,314,352)(H,315,378)(H,316,377)(H,317,393)(H,318,382)(H,319,386)(H,320,379)(H,321,363)(H,343,344)(H,345,346)(H,347,348)(H,349,350)(H,396,397)(H,398,399)(H4,267,268,271)/t131-,132-,133-,134+,135+,136+,150-,151-,152-,153-,154-,155-,156-,157-,158-,159-,160-,161-,162-,163-,164-,165-,166-,167-,168-,169-,170-,171-,172-,173-,174-,175-,176-,177-,178-,179-,180-,181-,182-,183-,184-,185-,186-,201-,202-,203-,204-,205-,206-,207-,208-,209-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PBGKTOXHQIOBKM-FHFVDXKLSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "5807.630" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "5803.63765" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC[C@H](C)[C@H](NC(=O)CN)C(=O)N[C@@H](C(C)C)C(=O)N[C@@H](CCC(O)=O)C(=O)N[C@@H](CCC(N)=O)C(=O)N[C@H]1CSSC[C@@H]2NC(=O)[C@@H](NC(=O)[C@H](CO)NC(=O)[C@@H](NC(=O)[C@H](CSSC[C@H](NC(=O)[C@H](CC(C)C)NC(=O)[C@H](CC3=CNC=N3)NC(=O)[C@H](CCC(N)=O)NC(=O)[C@H](CC(N)=O)NC(=O)[C@@H](NC(=O)[C@@H](N)CC3=CC=CC=C3)C(C)C)C(=O)NCC(=O)N[C@@H](CO)C(=O)N[C@@H](CC3=CNC=N3)C(=O)N[C@@H](CC(C)C)C(=O)N[C@@H](C(C)C)C(=O)N[C@@H](CCC(O)=O)C(=O)N[C@@H](C)C(=O)N[C@@H](CC(C)C)C(=O)N[C@@H](CC3=CC=C(O)C=C3)C(=O)N[C@@H](CC(C)C)C(=O)N[C@@H](C(C)C)C(=O)N[C@@H](CSSC[C@H](NC(=O)[C@H](CC3=CC=C(O)C=C3)NC(=O)[C@H](CC(N)=O)NC(=O)[C@H](CCC(O)=O)NC(=O)[C@H](CC(C)C)NC(=O)[C@H](CCC(N)=O)NC(=O)[C@H](CC3=CC=C(O)C=C3)NC(=O)[C@H](CC(C)C)NC(=O)[C@H](CO)NC2=O)C(=O)N[C@@H](CC(N)=O)C(O)=O)C(=O)NCC(=O)N[C@@H](CCC(O)=O)C(=O)N[C@@H](CCCNC(N)=N)C(=O)NCC(=O)N[C@@H](CC2=CC=CC=C2)C(=O)N[C@@H](CC2=CC=CC=C2)C(=O)N[C@@H](CC2=CC=C(O)C=C2)C(=O)N[C@@H]([C@@H](C)O)C(=O)N2CCC[C@H]2C(=O)N[C@@H](CCCCN)C(=O)N[C@@H]([C@@H](C)O)C(O)=O)NC1=O)[C@@H](C)O)[C@@H](C)CC" xsd:string [Term] id: CHEBI:59517 name: DNA synthesis inhibitor namespace: chebi_ontology def: "Any substance that inhibits the synthesis of DNA." [] subset: 3_STAR synonym: "DNA synthesis inhibitors" RELATED [ChEBI] is_a: CHEBI:23924 ! enzyme inhibitor is_a: EFO:0001899 ! drug role [Term] id: CHEBI:59695 name: cyproheptadine hydrochloride (anhydrous) namespace: chebi_ontology def: "The hydrochloride salt of cyproheptadine. Note that the drug named cyproheptadine hydrochloride generally refers to cyproheptadine hydrochloride sesquihydrate." [] subset: 3_STAR synonym: "4-(5H-dibenzo[a,d]cyclohepten-5-ylidene)-1-methylpiperidine hydrochloride" EXACT IUPAC_NAME [IUPAC] synonym: "anhydrous cyproheptadine hydrochloride" RELATED [ChEBI] synonym: "cyproheptadine HCl" RELATED [ChemIDplus] synonym: "cyproheptadine hydrochloride" RELATED [ChemIDplus] synonym: "cyproheptadine hydrochloride (anh.)" RELATED [ChEBI] synonym: "cyproheptadine hydrochloride anhydrous" RELATED [ChemIDplus] xref: Beilstein:3575322 {source="Beilstein"} xref: CAS:969-33-5 {source="ChemIDplus"} xref: NCIt:C28949 xref: Reaxys:3575322 {source="Reaxys"} xref: SNOMEDCT:15352003 xref: VSDB:2970 is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C21H22ClN" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C21H21N.ClH/c1-22-14-12-18(13-15-22)21-19-8-4-2-6-16(19)10-11-17-7-3-5-9-20(17)21;/h2-11H,12-15H2,1H3;1H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ZPMVNZLARAEGHB-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "323.85900" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "323.14408" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cl.CN1CCC(CC1)=C1c2ccccc2C=Cc2ccccc12" xsd:string [Term] id: CHEBI:60008 name: glycolithocholate namespace: chebi_ontology def: "A N-acylglycinate that is the conjugate base of glycolithocholic acid; major species at pH 7.3." [] subset: 3_STAR synonym: "glycolithocholate" EXACT [UniProt] synonym: "N-(3alpha-hydroxy-5beta-cholan-24-oyl)glycinate" EXACT IUPAC_NAME [IUPAC] is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C26H42NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C26H43NO4/c1-16(4-9-23(29)27-15-24(30)31)20-7-8-21-19-6-5-17-14-18(28)10-12-25(17,2)22(19)11-13-26(20,21)3/h16-22,28H,4-15H2,1-3H3,(H,27,29)(H,30,31)/p-1/t16-,17-,18-,19+,20-,21+,22+,25+,26-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XBSQTYHEGZTYJE-OETIFKLTSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "432.61600" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "432.31193" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]12CC[C@@]3([H])[C@]4([H])CC[C@]([H])([C@H](C)CCC(=O)NCC([O-])=O)[C@@]4(C)CC[C@]3([H])[C@@]1(C)CC[C@@H](O)C2" xsd:string [Term] id: CHEBI:6015 name: isoflurane namespace: chebi_ontology subset: 3_STAR synonym: "1-chloro-2,2,2-trifluoroethyl difluoromethyl ether" RELATED [NIST_Chemistry_WebBook] synonym: "2-chloro-2-difluoromethoxy-1,1,1-trifluoroethane" EXACT IUPAC_NAME [IUPAC] synonym: "Aerrane" RELATED BRAND_NAME [DrugBank] synonym: "Ethane" RELATED BRAND_NAME [DrugBank] synonym: "Forane" RELATED BRAND_NAME [DrugBank] synonym: "Forene" RELATED BRAND_NAME [DrugBank] synonym: "Isoflurane" EXACT [KEGG_COMPOUND] synonym: "isoflurane" RELATED INN [ChemIDplus] synonym: "isoflurano" RELATED INN [ChemIDplus] synonym: "isofluranum" RELATED INN [ChemIDplus] xref: CAS:26675-46-7 {source="KEGG COMPOUND"} xref: CAS:26675-46-7 {source="ChemIDplus"} xref: CAS:26675-46-7 {source="NIST Chemistry WebBook"} xref: Drug_Central:1493 {source="DrugCentral"} xref: DrugBank:DB00753 xref: KEGG:C07518 xref: KEGG:D00545 xref: MeSH:D007530 xref: NCIt:C65978 xref: SNOMEDCT:387368002 xref: SNOMEDCT:66492008 xref: VSDB:1804 xref: Wikipedia:Isoflurane is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:38870 ! inhalation anaesthetic property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H2ClF5O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H2ClF5O/c4-1(3(7,8)9)10-2(5)6/h1-2H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PIWKPBJCKXDKJR-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "184.49210" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "183.97143" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "FC(F)OC(Cl)C(F)(F)F" xsd:string [Term] id: CHEBI:60151 name: oxidised LDL namespace: chebi_ontology def: "An oxidised form of low-density lipoprotein (LDL), regulated in vivo by a complex set of biochemical reactions and chiefly stimulated by the presence of necrotic cell debris and free radicals in the endothelium." [] subset: 3_STAR synonym: "oxidised low-density lipoprotein" RELATED [ChEBI] synonym: "oxidised low-density lipoproteins" RELATED [ChEBI] synonym: "oxidized LDL" RELATED [ChEBI] synonym: "oxidized low-density lipoprotein" RELATED [ChEBI] synonym: "oxidized low-density lipoproteins" RELATED [ChEBI] synonym: "OxLDL" RELATED [ChEBI] xref: CiteXplore:11181467 xref: CiteXplore:11356183 xref: CiteXplore:15583011 xref: CiteXplore:15913955 xref: CiteXplore:20187701 xref: CiteXplore:2248433 xref: PMID:11181467 {source="Europe PMC"} xref: PMID:11356183 {source="Europe PMC"} xref: PMID:15583011 {source="Europe PMC"} xref: PMID:15913955 {source="Europe PMC"} xref: PMID:20187701 {source="Europe PMC"} xref: PMID:2248433 {source="Europe PMC"} xref: PMID:28358592 {source="Europe PMC"} xref: PMID:28480509 {source="Europe PMC"} xref: PMID:28814403 {source="Europe PMC"} is_a: CHEBI:39026 ! low-density lipoprotein [Term] id: CHEBI:60175 name: 5-hydroxylysine namespace: chebi_ontology alt_id: CHEBI:339899 def: "A hydroxylysine that is lysine substituted by a hydroxy group at position 5." [] subset: 3_STAR synonym: "2,6-diamino-5-hydroxyhexanoic acid" RELATED [ChEBI] synonym: "5-hydroxy-2,6-diaminohexanoic acid" RELATED [ChEBI] synonym: "5-hydroxylysine" EXACT IUPAC_NAME [IUPAC] synonym: "hydroxylysine" RELATED [ChEBI] synonym: "Hyl" RELATED [ChEBI] xref: MetaCyc:CPD-7689 is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H14N2O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H14N2O3/c7-3-4(9)1-2-5(8)6(10)11/h4-5,9H,1-3,7-8H2,(H,10,11)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YSMODUONRAFBET-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "162.18700" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "162.10044" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NCC(O)CCC(N)C(O)=O" xsd:string [Term] id: CHEBI:6030 name: isoniazide namespace: chebi_ontology def: "A carbohydrazide obtained by formal condensation between pyridine-4-carboxylic acid and hydrazine." [] subset: 3_STAR synonym: "4-pyridinecarbohydrazide" RELATED [ChEBI] synonym: "Isoniazid" RELATED [KEGG_COMPOUND] synonym: "isoniazid" RELATED [UniProt] synonym: "isonicotinic acid hydrazide" RELATED [NIST_Chemistry_WebBook] synonym: "isonicotinic hydrazide" RELATED [ChEBI] synonym: "isonicotinohydrazide" RELATED [NIST_Chemistry_WebBook] synonym: "isonicotinoylhydrazide" RELATED [IUPAC] synonym: "Isonicotinsaeurehydrazid" RELATED [ChEBI] synonym: "pyridine-4-carbohydrazide" EXACT IUPAC_NAME [IUPAC] synonym: "pyridine-4-carboxylic acid hydrazide" RELATED [ChEBI] xref: Beilstein:119374 {source="Beilstein"} xref: CAS:54-85-3 {source="KEGG COMPOUND"} xref: CAS:54-85-3 {source="NIST Chemistry WebBook"} xref: CAS:54-85-3 {source="ChemIDplus"} xref: Drug_Central:1497 {source="DrugCentral"} xref: DrugBank:DB00951 xref: Gmelin:82804 {source="Gmelin"} xref: KEGG:C07054 xref: KEGG:D00346 xref: LINCS:LSM-6682 xref: MetaCyc:ISONIAZIDE xref: PMID:15013786 {source="Europe PMC"} xref: PMID:18220565 {source="Europe PMC"} xref: PMID:19183459 {source="Europe PMC"} xref: PMID:445303 {source="Europe PMC"} xref: Reaxys:119374 {source="Reaxys"} xref: Wikipedia:Isoniazid is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H7N3O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H7N3O/c7-9-6(10)5-1-3-8-4-2-5/h1-4H,7H2,(H,9,10)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QRXWMOHMRWLFEY-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "137.13930" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "137.05891" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NNC(=O)c1ccncc1" xsd:string [Term] id: CHEBI:604731 name: pyrraline namespace: chebi_ontology def: "A pyrrole having formyl and hydroxymethyl substituents at positions 2 and 5 respectively; useful as indicator of advanced stages of the Maillard reaction, which produces advanced glycation end-products (AGEs)." [] subset: 3_STAR synonym: "2-amino-6-(2-formyl-5-hydroxymethyl-1-pyrrolyl)-hexanoic acid" RELATED [ChEBI] synonym: "2-Amino-6-(2-formyl-5-hydroxymethylpyrrol-1-yl)hexanoic acid" RELATED [ChemIDplus] synonym: "2-Fhmpn" RELATED [ChemIDplus] synonym: "2-Formyl-5-(hydroxymethyl)pyrrole-1-norleucine" RELATED [ChemIDplus] synonym: "5-(hydroxymethyl)-1H-pyrrole-2-carbaldehyde" EXACT IUPAC_NAME [IUPAC] synonym: "5-(hydroxymethyl)pyrrole-2-carboxaldehyde" RELATED [ChEMBL] xref: Beilstein:1524599 {source="Beilstein"} xref: PMID:1556177 {source="Europe PMC"} xref: PMID:19555106 {source="Europe PMC"} xref: PMID:24505139 {source="Europe PMC"} xref: PMID:26260362 {source="Europe PMC"} xref: PMID:27384561 {source="Europe PMC"} xref: PMID:27626184 {source="Europe PMC"} xref: PMID:28081599 {source="Europe PMC"} xref: PMID:8717098 {source="Europe PMC"} is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H7NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H7NO2/c8-3-5-1-2-6(4-9)7-5/h1-3,7,9H,4H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SRPREECLSOIPNK-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "125.126" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "125.04768" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C=1C=C(C(=O)[H])NC1CO" xsd:string [Term] id: CHEBI:60479 name: lysophosphatidylcholine namespace: chebi_ontology def: "An acylglycerophosphocholine resulting from partial hydrolysis of a phosphatidylcholine, which removes one of the fatty acyl groups. The structure is depicted in the image where R1 = acyl, R2 = H or where R1 = H, R2 = acyl." [] subset: 3_STAR synonym: "lysophosphatidylcholines" RELATED [ChEBI] synonym: "monoacylglycero-3-phosphocholine" RELATED [UniProt] is_a: CHEBI:36313 ! glycerophosphocholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H19NO7PR" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "255.206" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "255.08717" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C@](CO*)(O*)([H])COP(OCC[N+](C)(C)C)(=O)[O-]" xsd:string [Term] id: CHEBI:60645 name: 2-hydroxy-3-methylbutyric acid namespace: chebi_ontology alt_id: CHEBI:79022 def: "A valine derivative that is valine in which the amino group has been replaced by a hydroxy group." [] subset: 3_STAR synonym: "2-hydroxy-3-methylbutanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "2-Hydroxyisopentanoic acid" RELATED [HMDB] synonym: "2-Hydroxyisovaleric acid" RELATED [ChemIDplus] synonym: "3-Methyl-2-hydroxybutyric acid" RELATED [HMDB] synonym: "alpha-hydroxyisovaleric acid" RELATED [HMDB] xref: CAS:4026-18-0 {source="ChemIDplus"} xref: HMDB:HMDB0000407 xref: Reaxys:1721138 {source="Reaxys"} is_a: EFO:0004416 ! acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H10O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H10O3/c1-3(2)4(6)5(7)8/h3-4,6H,1-2H3,(H,7,8)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NGEWQZIDQIYUNV-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "118.13110" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "118.06299" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)C(O)C(O)=O" xsd:string [Term] id: CHEBI:6067 name: isotretinoin namespace: chebi_ontology def: "A retinoic acid that is all-trans-retinoic acid in which the double bond which is alpha,beta- to the carboxy group is isomerised to Z configuration. A synthetic retinoid, it is used for the treatment of severe cases of acne and other skin diseases." [] subset: 3_STAR synonym: "(2Z,4E6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "(7E,9E,11E,13Z)-retinoic acid" RELATED [JCBN] synonym: "13-cis-retinoic acid" RELATED [JCBN] synonym: "13-cis-Vitamin A acid" RELATED [ChemIDplus] synonym: "13-RA" RELATED [ChemIDplus] synonym: "Accutane" RELATED BRAND_NAME [DrugBank] synonym: "Amnesteem" RELATED BRAND_NAME [DrugBank] synonym: "cis-RA" RELATED [ChEBI] synonym: "Claravis" RELATED BRAND_NAME [DrugBank] synonym: "isotretinoin" RELATED INN [ChemIDplus] synonym: "isotretinoina" RELATED INN [WHO_MedNet] synonym: "isotretinoine" RELATED INN [WHO_MedNet] synonym: "isotretinoino" RELATED [ChemIDplus] synonym: "isotretinoinum" RELATED INN [ChemIDplus] synonym: "Neovitamin A acid" RELATED [ChemIDplus] xref: Beilstein:1885770 {source="Beilstein"} xref: CAS:4759-48-2 {source="ChemIDplus"} xref: Drug_Central:1508 {source="DrugCentral"} xref: DrugBank:DB00982 xref: HMDB:HMDB0006219 xref: KEGG:D00348 xref: LIPID_MAPS_instance:LMPR01090021 {source="LIPID MAPS"} xref: MeSH:D015474 xref: NCIt:C603 xref: Patent:EP111325 xref: Patent:US4556518 xref: PMID:11606947 {source="Europe PMC"} xref: PMID:11866680 {source="Europe PMC"} xref: PMID:15304471 {source="Europe PMC"} xref: PMID:18077132 {source="Europe PMC"} xref: PMID:18788179 {source="Europe PMC"} xref: PMID:19568610 {source="Europe PMC"} xref: PMID:20482692 {source="Europe PMC"} xref: PMID:23676507 {source="Europe PMC"} xref: PMID:9807973 {source="Europe PMC"} xref: Reaxys:1885770 {source="Reaxys"} xref: SNOMEDCT:38314008 xref: SNOMEDCT:387208003 xref: Wikipedia:Isotretinoin is_a: CHEBI:26536 ! retinoic acid relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H28O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H28O2/c1-15(8-6-9-16(2)14-19(21)22)11-12-18-17(3)10-7-13-20(18,4)5/h6,8-9,11-12,14H,7,10,13H2,1-5H3,(H,21,22)/b9-6+,12-11+,15-8+,16-14-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SHGAZHPCJJPHSC-XFYACQKRSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "300.43512" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "300.20893" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(\\C=C\\C1=C(C)CCCC1(C)C)=C/C=C/C(C)=C\\C(O)=O" xsd:string [Term] id: CHEBI:6078 name: ivermectin namespace: chebi_ontology def: "A mixture consisting of >= 90% 22,23-dihydroavermectin B1a (R = Me) and <= 10% 22,23-dihydroavermectin B1b (R = H). A semi-synthetic derivative of abamectin, it is used as a broad-spectrum antiparasite medication, particularly against worms (except tapeworms), although it is also effective against most mites and some lice." [] subset: 3_STAR synonym: "Ivermax" RELATED BRAND_NAME [ChEBI] synonym: "ivermectin" RELATED INN [ChemIDplus] synonym: "ivermectine" RELATED INN [ChemIDplus] synonym: "ivermectino" RELATED INN [ChemIDplus] synonym: "ivermectinum" RELATED INN [ChemIDplus] synonym: "Ivomec" RELATED BRAND_NAME [ChemIDplus] synonym: "Mectizan" RELATED BRAND_NAME [DrugBank] synonym: "Noromectin" RELATED BRAND_NAME [ChEBI] synonym: "Privermectin" RELATED BRAND_NAME [ChEBI] synonym: "Sklice" RELATED BRAND_NAME [ChEBI] synonym: "Stromectol" RELATED BRAND_NAME [DrugBank] synonym: "Vetrimec" RELATED BRAND_NAME [ChEBI] synonym: "Zimecterin" RELATED BRAND_NAME [ChEBI] xref: CAS:70288-86-7 {source="KEGG COMPOUND"} xref: CAS:70288-86-7 {source="ChemIDplus"} xref: ChemIDplus:70288-86-7 xref: Chemspider:7988461 xref: CiteXplore:15078277 xref: CiteXplore:18718154 xref: CiteXplore:21824728 xref: CiteXplore:21831526 xref: CiteXplore:22039801 xref: CiteXplore:22047763 xref: DrugBank:DB00602 xref: KEGG COMPOUND:70288-86-7 xref: KEGG COMPOUND:C07970 xref: KEGG DRUG:D00804 xref: KEGG:D00804 xref: MeSH:D007559 xref: NCIt:C61796 xref: Patent:US4199569 xref: Pesticides:ivermectin {source="Alan Wood's Pesticides"} xref: PMID:15078277 {source="Europe PMC"} xref: PMID:18718154 {source="Europe PMC"} xref: PMID:21824728 {source="Europe PMC"} xref: PMID:21831526 {source="Europe PMC"} xref: PMID:22039784 {source="Europe PMC"} xref: PMID:22039801 {source="Europe PMC"} xref: PMID:22047763 {source="Europe PMC"} xref: SNOMEDCT:387559003 xref: SNOMEDCT:96138006 xref: VSDB:1455 xref: Wikipedia:Ivermectin is_a: CHEBI:24431 ! chemical entity relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C47H71O14R" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C48H74O14.C47H72O14" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "860.060" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "859.48438" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12C\\C=C(C)\\[C@@H](O[C@H]3C[C@H](OC)[C@@H](O[C@H]4C[C@H](OC)[C@@H](O)[C@H](C)O4)[C@H](C)O3)[C@@H](C)\\C=C\\C=C3/CO[C@]4([H])[C@H](O)C(C)=C[C@@]([H])(C(=O)O[C@@H](C1)C[C@]1(CC[C@H](C)[C@]([H])(O1)[C@@H](C)C[*])O2)[C@]34O" xsd:string [Term] id: CHEBI:60815 name: lysobisphosphatidic acid namespace: chebi_ontology def: "A lysophosphatidic acid having the unusual property of a phosphodiester moiety linked to positions sn-1 and sn1' of glycerol; and two additional fatty acids esterified to the glycerol head group." [] subset: 3_STAR synonym: "bis(monoacylglycerol) hydrogen phosphate" RELATED [ChEBI] synonym: "BMP" RELATED [ChEBI] synonym: "LBPA" RELATED [ChEBI] xref: PMID:10101262 {source="Europe PMC"} xref: PMID:12008959 {source="Europe PMC"} xref: PMID:18052935 {source="Europe PMC"} xref: PMID:19857945 {source="Europe PMC"} is_a: CHEBI:16247 ! phospholipid [Term] id: CHEBI:61057 name: tacrolimus hydrate namespace: chebi_ontology def: "A hydrate that is the monohydrate form of tacrolimus." [] subset: 3_STAR synonym: "(-)-(3S,4R,5S,8R,9E,12S,14S,15R,16S,18R,19R,26aS)-5,19-dihydroxy-3-{(1E)-1-[(1R,3R,4R)-4-hydroxy-3-methoxycyclohexyl]prop-1-en-2-yl}-14,16-dimethoxy-4,10,12,18-tetramethyl-8-(prop-2-en-1-yl)-5,6,8,11,12,13,14,15,16,17,18,19,24,25,26,26a-hexadecahydro-3H-15,19-epoxypyrido[2,1-c][1,4]oxazacyclotricosine-1,7,20,21(4H,23H)-tetrone monohydrate" RELATED [ChemIDplus] synonym: "(3S,4R,5S,8R,9E,12S,14S,15R,16S,18R,19R,26aS)-5,19-dihydroxy-3-{(1E)-1-[(1R,3R,4R)-4-hydroxy-3-methoxycyclohexyl]prop-1-en-2-yl}-14,16-dimethoxy-4,10,12,18-tetramethyl-8-(prop-2-en-1-yl)-5,6,8,11,12,13,14,15,16,17,18,19,24,25,26,26a-hexadecahydro-3H-15,19-epoxypyrido[2,1-c][1,4]oxazacyclotricosine-1,7,20,21(4H,23H)-tetrone--water (1/1)" EXACT IUPAC_NAME [IUPAC] synonym: "Prograf" RELATED BRAND_NAME [KEGG_DRUG] synonym: "Protopic" RELATED BRAND_NAME [KEGG_DRUG] synonym: "tacrolimus" RELATED [ChemIDplus] synonym: "tacrolimus monohydrate" RELATED [ChEBI] synonym: "tsukubaenolide hydrate" RELATED [ChemIDplus] xref: CAS:109581-93-3 {source="ChemIDplus"} xref: CAS:109581-93-3 {source="KEGG DRUG"} xref: ChemIDplus:109581-93-3 xref: DrugBank:DB00864 xref: KEGG DRUG:109581-93-3 xref: KEGG DRUG:D00107 xref: KEGG:D00107 xref: MeSH:D016559 xref: NCIt:C1311 xref: Reaxys:6265275 {source="Reaxys"} xref: SNOMEDCT:109129008 xref: SNOMEDCT:386975001 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C44H71NO13" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C44H69NO12.H2O/c1-10-13-31-19-25(2)18-26(3)20-37(54-8)40-38(55-9)22-28(5)44(52,57-40)41(49)42(50)45-17-12-11-14-32(45)43(51)56-39(29(6)34(47)24-35(31)48)27(4)21-30-15-16-33(46)36(23-30)53-7;/h10,19,21,26,28-34,36-40,46-47,52H,1,11-18,20,22-24H2,2-9H3;1H2/b25-19+,27-21+;/t26-,28+,29+,30-,31+,32-,33+,34-,36+,37-,38-,39+,40+,44+;/m0./s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NWJQLQGQZSIBAF-MLAUYUEBSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "822.03340" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "821.49254" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O.CO[C@@H]1C[C@@H](CC[C@H]1O)\\C=C(/C)[C@H]1OC(=O)[C@@H]2CCCCN2C(=O)C(=O)[C@]2(O)O[C@H]([C@H](C[C@@H](C)C\\C(C)=C\\[C@@H](CC=C)C(=O)C[C@H](O)[C@H]1C)OC)[C@H](C[C@H]2C)OC" xsd:string [Term] id: CHEBI:61058 name: alpha-methyl-L-dopa namespace: chebi_ontology def: "A derivative of L-tyrosine having a methyl group at the alpha-position and an additional hydroxy group at the 3-position on the phenyl ring." [] subset: 3_STAR synonym: "(2S)-2-amino-3-(3,4-dihydroxyphenyl)-2-methylpropanoic acid" RELATED [IUPAC] synonym: "(S)-(-)-alpha-Methyldopa" RELATED [ChemIDplus] synonym: "3-Hydroxy-alpha-methyl-L-tyrosine" RELATED [ChemIDplus] synonym: "3-hydroxy-alpha-methyl-L-tyrosine" EXACT IUPAC_NAME [IUPAC] synonym: "Alpha medopa" RELATED [DrugBank] synonym: "alpha-Methyl dopa" RELATED [ChemIDplus] synonym: "alpha-Methyl-beta-(3,4-dihydroxyphenyl)-L-alanine" RELATED [ChemIDplus] synonym: "alpha-Methyl-L-3,4-dihydroxyphenylalanine" RELATED [ChemIDplus] synonym: "alpha-Methyldihydroxyphenylalanine" RELATED [ChemIDplus] synonym: "alpha-Methyldopa" RELATED [ChemIDplus] synonym: "Alphamethyldopa" RELATED [DrugBank] synonym: "AMD" RELATED [DrugBank] synonym: "L(-)-beta-(3,4-Dihydroxyphenyl)-alpha-methylalanine" RELATED [ChemIDplus] synonym: "L-(-)-3-(3,4-Dihydroxyphenyl)-2-methylalanine" RELATED [ChemIDplus] synonym: "L-(-)-alpha-Methyl-beta-(3,4-dihydroxyphenyl)alanine" RELATED [ChemIDplus] synonym: "L-(alpha-Md)" RELATED [ChemIDplus] synonym: "L-2-Amino-2-methyl-3-(3,4-dihydroxyphenyl)propionic acid" RELATED [ChemIDplus] synonym: "l-3-(3,4-Dihydroxyphenyl)-2-methylalanine" RELATED [ChemIDplus] synonym: "L-alpha-Methyl-3,4-dihydroxyphenylalanine" RELATED [ChemIDplus] synonym: "L-alpha-Methyldopa" RELATED [ChemIDplus] synonym: "L-Methyl Dopa" RELATED [DrugBank] synonym: "levo-3-(3,4-Dihydroxyphenyl)-2-methylalanine" RELATED [ChemIDplus] synonym: "Methyl-L-dopa" RELATED [ChemIDplus] synonym: "Methyldopa" RELATED [KEGG_COMPOUND] synonym: "methyldopa" RELATED INN [KEGG_DRUG] synonym: "Methyldopa anhydrous" RELATED [DrugBank] synonym: "methyldopum" RELATED INN [ChemIDplus] synonym: "metildopa" RELATED INN [ChemIDplus] xref: CAS:555-30-6 {source="ChemIDplus"} xref: CAS:555-30-6 {source="KEGG COMPOUND"} xref: Drug_Central:1762 {source="DrugCentral"} xref: DrugBank:DB00968 xref: HMDB:HMDB0011754 xref: KEGG:C07194 xref: KEGG:D08205 xref: LINCS:LSM-5596 xref: PMID:10576686 {source="Europe PMC"} xref: PMID:11901210 {source="Europe PMC"} xref: PMID:29438107 {source="Europe PMC"} xref: PMID:8301021 {source="Europe PMC"} xref: Reaxys:2807721 {source="Reaxys"} xref: Wikipedia:Methyldopa is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H13NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H13NO4/c1-10(11,9(14)15)5-6-2-3-7(12)8(13)4-6/h2-4,12-13H,5,11H2,1H3,(H,14,15)/t10-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CJCSPKMFHVPWAR-JTQLQIEISA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "211.21450" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "211.08446" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[C@](N)(Cc1ccc(O)c(O)c1)C(O)=O" xsd:string [Term] id: CHEBI:61204 name: docosapentaenoic acid namespace: chebi_ontology def: "Any straight-chain, C22 fatty acid having five C=C double bonds." [] subset: 3_STAR synonym: "22:5" RELATED [ChEBI] synonym: "C22:5" RELATED [ChEBI] synonym: "docosapentaenoic acids" RELATED [ChEBI] xref: MeSH:C026219 xref: NCIt:C68347 xref: PMID:12323085 {source="Europe PMC"} xref: PMID:12323090 {source="Europe PMC"} xref: PMID:17547694 {source="Europe PMC"} xref: Wikipedia:Docosapentaenoic_acid is_a: CHEBI:35366 ! fatty acid [Term] id: CHEBI:6121 name: ketamine namespace: chebi_ontology alt_id: CHEBI:138833 def: "A member of the class of cyclohexanones in which one of the hydrogens at position 2 is substituted by a 2-chlorophenyl group, while the other is substituted by a methylamino group." [] subset: 3_STAR synonym: "(+-)-ketamine" RELATED [ChemIDplus] synonym: "2-(2-Chloro-phenyl)-2-methylamino-cyclohexanone" RELATED [ChEMBL] synonym: "2-(2-chlorophenyl)-2-(methylamino)cyclohexanone" EXACT IUPAC_NAME [IUPAC] synonym: "2-(methylamino)-2-(2-chlorophenyl)cyclohexanone" RELATED [ChemIDplus] synonym: "2-(o-chlorophenyl)-2-(methylamino)-cyclohexanone" RELATED [ChemIDplus] synonym: "DL-ketamine" RELATED [ChEBI] synonym: "dl-ketamine" RELATED [ChemIDplus] synonym: "ketamina" RELATED INN [WHO_MedNet] synonym: "KETAMINE" EXACT [ChEMBL] synonym: "Ketamine" EXACT [KEGG_COMPOUND] synonym: "ketamine" RELATED INN [ChemIDplus] synonym: "ketamine" RELATED INN [WHO_MedNet] synonym: "ketaminum" RELATED INN [ChemIDplus] synonym: "NMDA" RELATED [ChEBI] synonym: "special K" RELATED [ChemIDplus] xref: CAS:100477-72-3 {source="NIST Chemistry WebBook"} xref: CAS:6740-88-1 {source="KEGG COMPOUND"} xref: CAS:6740-88-1 {source="ChemIDplus"} xref: Drug_Central:1523 {source="DrugCentral"} xref: DrugBank:DB01221 xref: HMDB:HMDB0015352 xref: KEGG:C07525 xref: KEGG:D08098 xref: Patent:BE634208 xref: Patent:US3254124 xref: PMID:3783598 {source="ChEMBL"} xref: Reaxys:2216965 {source="Reaxys"} xref: VSDB:2978 xref: Wikipedia:Ketamine is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C13H16ClNO" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C13H16ClNO/c1-15-13(9-5-4-8-12(13)16)10-6-2-3-7-11(10)14/h2-3,6-7,15H,4-5,8-9H2,1H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YQEZLKZALYSWHR-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "237.72500" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "237.09204" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CNC1(CCCCC1=O)c1ccccc1Cl" xsd:string [Term] id: CHEBI:61276 name: scopolamine methobromide namespace: chebi_ontology def: "A quaternary ammonium salt resulting from the reaction of the amino group of scopolamine with methyl bromide." [] subset: 3_STAR synonym: "(-)-(1S,3s,5R,6R,7S)-6,7-epoxy-8-methyl-3-[(S)-tropoyloxy]tropanium bromide" RELATED [ChEBI] synonym: "(-)-scopolamine methobromide" RELATED [ChEBI] synonym: "(-)-scopolamine methyl bromide" RELATED [ChemIDplus] synonym: "(1R,2R,4S,5S,7s)-7-{[(2S)-3-hydroxy-2-phenylpropanoyl]oxy}-9,9-dimethyl-3-oxa-9-azoniatricyclo[3.3.1.0(2,4)]nonane" EXACT IUPAC_NAME [IUPAC] synonym: "(S)-6beta,7beta-epoxy-8-methyl-3alpha-(-)-tropoyloxy-1alphaH,5alphaH-tromanium bromide" RELATED [ChemIDplus] synonym: "hyoscine methobromide" RELATED INN [KEGG_DRUG] synonym: "hyoscine methyl bromide" RELATED [ChemIDplus] synonym: "methscopolamine bromide" RELATED [ChemIDplus] synonym: "methylscopolamine bromide" RELATED [ChemIDplus] synonym: "N-methylhyoscine bromide" RELATED [DrugBank] synonym: "N-methylscopolammonium bromide" RELATED [ChemIDplus] synonym: "Pamine" RELATED BRAND_NAME [KEGG_DRUG] synonym: "scopolamine methyl bromide" RELATED [ChEBI] xref: CAS:155-41-9 {source="ChemIDplus"} xref: CAS:155-41-9 {source="KEGG DRUG"} xref: ChemIDplus:155-41-9 "CAS Registry Number" xref: DrugBank:DB00462 "DrugBank" xref: DrugBank:DB00462 xref: DrugBank:DB00747 "DrugBank" xref: DrugBank:DB00747 xref: KEGG DRUG:155-41-9 "CAS Registry Number" xref: KEGG DRUG:D00715 "KEGG DRUG" xref: KEGG:D00715 xref: NCIt:C47612 xref: Patent:US2753288 "Patent" xref: Patent:US2753288 xref: Reaxys:8173227 "Reaxys Registry Number" xref: Reaxys:8173227 {source="Reaxys"} xref: SNOMEDCT:49371000 is_a: EFO:0004415 ! ionic salt relationship: has_role CHEBI:48876 ! muscarinic antagonist relationship: has_role CHEBI:50370 ! parasympatholytic relationship: has_role CHEBI:50919 ! antiemetic relationship: has_role CHEBI:53784 ! antispasmodic drug property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H24BrNO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H24NO4.BrH/c1-19(2)14-8-12(9-15(19)17-16(14)23-17)22-18(21)13(10-20)11-6-4-3-5-7-11;/h3-7,12-17,20H,8-10H2,1-2H3;1H/q+1;/p-1/t12-,13-,14-,15+,16-,17+;/m1./s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CXYRUNPLKGGUJF-RAFJPFSSSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "398.29100" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "397.08887" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Br-].C[N+]1(C)[C@H]2C[C@@H](C[C@@H]1[C@H]1O[C@@H]21)OC(=O)[C@H](CO)c1ccccc1" xsd:string [Term] id: CHEBI:61695 name: L-prolylglycine namespace: chebi_ontology alt_id: CHEBI:73594 def: "A dipeptide consisting of glycine having an L-prolyl group attached to its alpha-amino nitrogen." [] subset: 3_STAR synonym: "L-Pro-Gly" RELATED [ChEBI] synonym: "L-prolinylglycine" EXACT IUPAC_NAME [IUPAC] synonym: "L-prolinylglycine" RELATED [ChEBI] synonym: "L-prolylglycine" EXACT IUPAC_NAME [IUPAC] synonym: "P-G" RELATED [ChEBI] synonym: "PG" RELATED [ChEBI] synonym: "Pro-Gly" RELATED [ChemIDplus] synonym: "Prolylglycine" RELATED [ChemIDplus] xref: Beilstein:83366 {source="Beilstein"} xref: CAS:2578-57-6 {source="ChemIDplus"} xref: HMDB:HMDB0011178 xref: MetaCyc:CPD0-2182 {source="SUBMITTER"} xref: PMID:10219662 {source="Europe PMC"} xref: PMID:27017332 {source="Europe PMC"} xref: PMID:3782411 {source="Europe PMC"} is_a: EFO:0004417 ! amide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H12N2O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H12N2O3/c10-6(11)4-9-7(12)5-2-1-3-8-5/h5,8H,1-4H2,(H,9,12)(H,10,11)/t5-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RNKSNIBMTUYWSH-YFKPBYRVSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "172.182" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "172.08479" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C([C@H]1NCCC1)(=O)NCC(O)=O" xsd:string [Term] id: CHEBI:61938 name: gamma-carboxy-L-glutamic acid zwitterion(2-) namespace: chebi_ontology def: "A tricarboxylic acid dianion that is obtained from gamma-carboxy-L-glutamic acid by removal of a proton from each of the carboxy groups and protonation of the amino group; the resulting entity has an overall charge of 2-." [] subset: 3_STAR synonym: "(3S)-3-ammonio-1,1,3-propanetricarboxylate" RELATED [ChEBI] synonym: "(3S)-3-ammoniopropane-1,1,3-tricarboxylate" EXACT IUPAC_NAME [IUPAC] synonym: "gamma-carboxy-L-glutamate" RELATED [ChEBI] synonym: "gamma-carboxyglutamate" RELATED [ChEBI] is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H7NO6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H9NO6/c7-3(6(12)13)1-2(4(8)9)5(10)11/h2-3H,1,7H2,(H,8,9)(H,10,11)(H,12,13)/p-2/t3-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UHBYWPGGCSDKFX-VKHMYHEASA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "189.12290" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "189.02843" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[NH3+][C@@H](CC(C([O-])=O)C([O-])=O)C([O-])=O" xsd:string [Term] id: CHEBI:6198 name: (S)-azetidine-2-carboxylic acid namespace: chebi_ontology def: "The (S)-enantiomer of azetidine-2-carboxylic acid." [] subset: 3_STAR synonym: "(2S)-azetidine-2-carboxylic acid" EXACT IUPAC_NAME [IUPAC] synonym: "(S)-(-)-Azetidine-2-carboxylic acid" RELATED [KEGG_COMPOUND] synonym: "(S)-2-azetidinecarboxylic acid" RELATED [ChemIDplus] synonym: "(S)-azetidine-2-carboxylic acid" EXACT [ChemIDplus] synonym: "Azetidyl-2-carboxylic acid" RELATED [KEGG_COMPOUND] synonym: "L-Azetidine 2-carboxylic acid" RELATED [KEGG_COMPOUND] xref: Beilstein:3648544 {source="Beilstein"} xref: Beilstein:80678 {source="Beilstein"} xref: CAS:2133-34-8 {source="KEGG COMPOUND"} xref: CAS:2133-34-8 {source="ChemIDplus"} xref: KEGG:C08267 xref: KNApSAcK:C00001343 xref: PMID:1101962 {source="Europe PMC"} xref: PMID:5041194 {source="Europe PMC"} xref: Reaxys:80678 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H7NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H7NO2/c6-4(7)3-1-2-5-3/h3,5H,1-2H2,(H,6,7)/t3-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IADUEWIQBXOCDZ-VKHMYHEASA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "101.10392" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "101.04768" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]1(CCN1)C(O)=O" xsd:string [Term] id: CHEBI:62088 name: metamizole namespace: chebi_ontology def: "A pyrazole that is antiipyrine substituted at C-4 by a methyl(sulfomethyl)amino group, the sodium salt of which, metamizole sodium, was widely used as a powerful analgesic and antipyretic, but withdrawn from many markets from the 1970s due to a risk of causing risk of causing agranulocytosis." [] subset: 3_STAR synonym: "(antipyrinylmethylamino)methanesulfonic acid" RELATED [ChEBI] synonym: "[(1,5-dimethyl-3-oxo-2-phenyl-2,3-dihydro-1H-pyrazol-4-yl)(methyl)amino]methanesulfonic acid" EXACT IUPAC_NAME [IUPAC] synonym: "[(2,3-dihydro-1,5-dimethyl-3-oxo-2-phenyl-1H-pyrazol-4-yl)methylamino]methanesulfonic acid" RELATED [ChEBI] synonym: "metamizol" RELATED [ChemIDplus] synonym: "metamizolum" RELATED [ChemIDplus] synonym: "N-(2,3-dimethyl-5-oxo-1-phenyl-3-pyrazolin-4-yl)-N-methylaminomethanesulfonic acid" RELATED [ChEBI] xref: CAS:50567-35-6 {source="KEGG DRUG"} xref: CAS:50567-35-6 {source="ChemIDplus"} xref: Drug_Central:4659 {source="DrugCentral"} xref: DrugBank:DB04817 xref: HMDB:HMDB0254502 xref: KEGG:D08188 xref: LINCS:LSM-5839 xref: PMID:11048407 {source="Europe PMC"} xref: PMID:24724493 {source="Europe PMC"} xref: PMID:29772595 {source="Europe PMC"} xref: PMID:31435718 {source="Europe PMC"} xref: PMID:32238269 {source="Europe PMC"} xref: PMID:32588405 {source="Europe PMC"} xref: PMID:33247375 {source="Europe PMC"} xref: PMID:33675325 {source="Europe PMC"} xref: PMID:33823317 {source="Europe PMC"} xref: PMID:34038591 {source="Europe PMC"} xref: PMID:34181748 {source="Europe PMC"} xref: PMID:34273099 {source="Europe PMC"} xref: PMID:34648192 {source="Europe PMC"} xref: PMID:34726072 {source="Europe PMC"} xref: PMID:35043434 {source="Europe PMC"} xref: PMID:35138735 {source="Europe PMC"} xref: PMID:35156383 {source="Europe PMC"} xref: PMID:35275472 {source="Europe PMC"} xref: PMID:35290991 {source="Europe PMC"} xref: PMID:35416155 {source="Europe PMC"} xref: PMID:35416465 {source="Europe PMC"} xref: PMID:35433049 {source="Europe PMC"} xref: PMID:35584441 {source="Europe PMC"} xref: PMID:35670337 {source="Europe PMC"} xref: PMID:35774740 {source="Europe PMC"} xref: PMID:35774878 {source="Europe PMC"} xref: PMID:35912424 {source="Europe PMC"} xref: PMID:35933233 {source="Europe PMC"} xref: Reaxys:327442 {source="Reaxys"} xref: Wikipedia:Metamizole is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C13H17N3O4S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C13H17N3O4S/c1-10-12(14(2)9-21(18,19)20)13(17)16(15(10)3)11-7-5-4-6-8-11/h4-8H,9H2,1-3H3,(H,18,19,20)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LVWZTYCIRDMTEY-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "311.35700" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "311.09398" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN(CS(O)(=O)=O)c1c(C)n(C)n(-c2ccccc2)c1=O" xsd:string [Term] id: CHEBI:62205 name: 3-methylxanthine namespace: chebi_ontology def: "A monomethylxanthine having the methyl group located at the 3-position. It is a metabolite of caffeine." [] subset: 3_STAR synonym: "3-methylxanthines" RELATED [ChEBI] xref: HMDB:HMDB0001886 xref: KNApSAcK:C00043196 xref: PMID:16870158 {source="Europe PMC"} is_a: CHEBI:24532 ! organic heterocyclic compound [Term] id: CHEBI:62423 name: (2-hydroxyphenyl)acetate namespace: chebi_ontology def: "The monocarboxylic acid anion formed from (2-hydroxyphenyl)acetic acid by loss of a proton from the carboxy group; major microspecies at pH 7.3." [] subset: 3_STAR synonym: "(2-hydroxyphenyl)acetate" EXACT IUPAC_NAME [IUPAC] synonym: "(2-hydroxyphenyl)acetate" EXACT [UniProt] synonym: "2-hydroxybenzeneacetic acid (1-)" RELATED [SUBMITTER] synonym: "2-hydroxyphenylacetate" RELATED [ChEBI] synonym: "o-hydroxyphenylacetate" RELATED [MetaCyc] xref: MetaCyc:CPD-11495 {source="SUBMITTER"} xref: PMID:12750 {source="Europe PMC"} xref: PMID:5125336 {source="Europe PMC"} xref: PMID:5475034 {source="Europe PMC"} xref: Reaxys:3665522 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H7O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H8O3/c9-7-4-2-1-3-6(7)5-8(10)11/h1-4,9H,5H2,(H,10,11)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CCVYRRGZDBSHFU-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "151.13940" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "151.04007" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Oc1ccccc1CC([O-])=O" xsd:string [Term] id: CHEBI:62533 name: oligogalacturonide namespace: chebi_ontology def: "A galactooligosaccharide comprised of repeating alpha-D-galacturonide residues" [] subset: 3_STAR xref: PMID:17200972 {source="Europe PMC"} xref: PMID:17451747 {source="Europe PMC"} xref: PMID:20436295 {source="Europe PMC"} xref: PMID:21666025 {source="Europe PMC"} xref: PMID:9193702 {source="Europe PMC"} xref: PMID:9232905 {source="Europe PMC"} is_a: CHEBI:16646 ! carbohydrate property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12H18O13(C6H8O6)n" xsd:string [Term] id: CHEBI:62932 name: mycophenolate namespace: chebi_ontology def: "A monocarboxylic acid anion resulting from the removal of a proton from the carboxy group of mycophenolic acid." [] subset: 3_STAR synonym: "(4E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1,3-dihydro-2-benzofuran-5-yl)-4-methylhex-4-enoate" EXACT IUPAC_NAME [IUPAC] synonym: "mycophenolate" EXACT [UniProt] is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C17H19O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C17H20O6/c1-9(5-7-13(18)19)4-6-11-15(20)14-12(8-23-17(14)21)10(2)16(11)22-3/h4,20H,5-8H2,1-3H3,(H,18,19)/p-1/b9-4+" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HPNSFSBZBAHARI-RUDMXATFSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "319.32920" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "319.11871" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "COc1c(C)c2COC(=O)c2c(O)c1C\\C=C(/C)CCC([O-])=O" xsd:string [Term] id: CHEBI:62946 name: ammonium sulfate namespace: chebi_ontology def: "An inorganic sulfate salt obtained by reaction of sulfuric acid with two equivalents of ammonia. A high-melting (decomposes above 280degreeC) white solid which is very soluble in water (70.6 g/100 g water at 0degreeC; 103.8 g/100 g water at 100degreeC), it is widely used as a fertilizer for alkaline soils." [] subset: 3_STAR synonym: "(NH4)2SO4" RELATED [ChEBI] synonym: "ammonium sulfate (2:1)" RELATED [ChemIDplus] synonym: "ammonium sulphate" RELATED [SUBMITTER] synonym: "diammonium sulfate" RELATED [IUPAC] synonym: "diazanium sulfate" EXACT IUPAC_NAME [IUPAC] synonym: "mascagnite" RELATED [ChemIDplus] synonym: "sulfuric acid ammonium salt (1:2)" RELATED [ChemIDplus] synonym: "sulfuric acid, diammonium salt" RELATED [ChemIDplus] synonym: "sulphate of ammonia" RELATED [ChEBI] xref: CAS:7783-20-2 {source="KEGG DRUG"} xref: CAS:7783-20-2 {source="ChemIDplus"} xref: ChemIDplus:7783-20-2 "CAS Registry Number" xref: CiteXplore:20556652 "PubMed citation" xref: KEGG DRUG:7783-20-2 "CAS Registry Number" xref: KEGG DRUG:D08853 "KEGG DRUG" xref: KEGG:D08853 xref: MeSH:D000645 xref: MetaCyc:NH42SO4 "MetaCyc" xref: MetaCyc:NH42SO4 xref: NCIt:C76740 xref: PMID:20556652 {source="Europe PMC"} xref: PPDB:36 xref: Reaxys:11343144 "Reaxys Registry Number" xref: Reaxys:11343144 {source="Reaxys"} xref: SNOMEDCT:412087001 xref: Wikipedia:Ammonium_sulfate "Wikipedia" xref: Wikipedia:Ammonium_sulfate is_a: EFO:0004415 ! ionic salt relationship: has_role CHEBI:33287 ! fertilizer property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "H8N2O4S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/2H3N.H2O4S/c;;1-5(2,3)4/h2*1H3;(H2,1,2,3,4)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BFNBIHQBYMNNAN-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "132.14000" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "132.02048" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[NH4+].[NH4+].[O-]S([O-])(=O)=O" xsd:string [Term] id: CHEBI:62982 name: ammonium dihydrogen phosphate namespace: chebi_ontology def: "The ammonium salt of phosphoric acid (molar ratio 1:1)." [] subset: 3_STAR synonym: "Ammonium acid phosphate" RELATED [ChemIDplus] synonym: "Ammonium biphosphate" RELATED [ChemIDplus] synonym: "Ammonium diacid phosphate" RELATED [ChemIDplus] synonym: "Ammonium dihydrogen orthophosphate" RELATED [ChemIDplus] synonym: "ammonium dihydrogen phosphate" EXACT IUPAC_NAME [IUPAC] synonym: "Ammonium dihydrophosphate" RELATED [ChemIDplus] synonym: "Ammonium monobasic phosphate" RELATED [ChemIDplus] synonym: "Ammonium monophosphate" RELATED [ChemIDplus] synonym: "Ammonium orthophosphate dihydrogen" RELATED [ChemIDplus] synonym: "Dihydrogen ammonium phosphate" RELATED [ChemIDplus] synonym: "Monoammonium acid phosphate" RELATED [ChemIDplus] synonym: "Monoammonium dihydrogen orthophosphate" RELATED [ChemIDplus] synonym: "Monoammonium dihydrogen phosphate" RELATED [ChemIDplus] synonym: "Monoammonium hydrogen phosphate" RELATED [ChemIDplus] synonym: "Monoammonium orthophosphate" RELATED [ChemIDplus] synonym: "Monoammonium phosphate" RELATED [ChemIDplus] synonym: "monoammonium phosphate" RELATED [SUBMITTER] synonym: "Monobasic ammonium phosphate" RELATED [ChemIDplus] synonym: "Phosphoric acid, monoammonium salt" RELATED [ChemIDplus] synonym: "Primary ammonium phosphate" RELATED [ChemIDplus] xref: CAS:7722-76-1 {source="ChemIDplus"} xref: ChemIDplus:7722-76-1 "CAS Registry Number" xref: CiteXplore:18585075 "PubMed citation" xref: CiteXplore:20338805 "PubMed citation" xref: MeSH:C024788 xref: PMID:18585075 {source="Europe PMC"} xref: PMID:20338805 {source="Europe PMC"} xref: Reaxys:11461082 "Reaxys Registry Number" xref: Reaxys:11461082 {source="Reaxys"} xref: SNOMEDCT:412086005 is_a: EFO:0004415 ! ionic salt relationship: has_role CHEBI:33287 ! fertilizer property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "H6NO4P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/H3N.H3O4P/c;1-5(2,3)4/h1H3;(H3,1,2,3,4)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LFVGISIMTYGQHF-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "115.02570" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "115.00344" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][N+]([H])([H])[H].OP(O)([O-])=O" xsd:string [Term] id: CHEBI:63038 name: ammonium nitrate namespace: chebi_ontology def: "The ammonium salt of nitric acid." [] subset: 3_STAR synonym: "ammonium nitrate" EXACT IUPAC_NAME [IUPAC] synonym: "Ammonium nitricum" RELATED [ChemIDplus] synonym: "Ammonium saltpeter" RELATED [ChemIDplus] synonym: "Ammonium(I) nitrate (1:1)" RELATED [ChemIDplus] synonym: "Nitrate d'ammonium" RELATED [ChemIDplus] synonym: "Nitrate of ammonia" RELATED [ChemIDplus] synonym: "Nitrato amonico" RELATED [ChemIDplus] synonym: "Nitric acid ammonium salt (1:1)" RELATED [ChemIDplus] synonym: "Nitric acid, ammonium salt" RELATED [ChemIDplus] synonym: "Norway saltpeter" RELATED [ChemIDplus] xref: CAS:6484-52-2 {source="ChemIDplus"} xref: ChemIDplus:6484-52-2 "CAS Registry Number" xref: MeSH:C006568 xref: Reaxys:13203931 "Reaxys Registry Number" xref: Reaxys:13203931 {source="Reaxys"} xref: Wikipedia:Ammonium_nitrate "Wikipedia" xref: Wikipedia:Ammonium_nitrate is_a: EFO:0004415 ! ionic salt relationship: has_role CHEBI:33287 ! fertilizer relationship: has_role CHEBI:63490 ! explosive property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "H4N2O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/NO3.H3N/c2-1(3)4;/h;1H3/q-1;/p+1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DVARTQFDIMZBAA-UHFFFAOYSA-O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "80.04340" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "80.02219" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[NH4+].[O-][N+]([O-])=O" xsd:string [Term] id: CHEBI:63039 name: caesium chloride namespace: chebi_ontology def: "The inorganic chloride salt of caesium; each caesium ion is coordinated by eight chlorine ions." [] subset: 3_STAR synonym: "caesium chloride" EXACT IUPAC_NAME [IUPAC] synonym: "caesium monochloride" RELATED [ChEBI] synonym: "caesium(I) chloride" RELATED [ChEBI] synonym: "cesium chloride" RELATED [SUBMITTER] synonym: "Cesium monochloride" RELATED [ChemIDplus] synonym: "cesium(I) chloride" RELATED [ChEBI] synonym: "Tricesium trichloride" RELATED [ChemIDplus] xref: CAS:7647-17-8 {source="NIST Chemistry WebBook"} xref: CAS:7647-17-8 {source="ChemIDplus"} xref: ChemIDplus:7647-17-8 "CAS Registry Number" xref: CiteXplore:11058836 "PubMed citation" xref: CiteXplore:698485 "PubMed citation" xref: MeSH:C028019 xref: NIST Chemistry WebBook:7647-17-8 "CAS Registry Number" xref: PMID:11058836 {source="Europe PMC"} xref: PMID:698485 {source="Europe PMC"} xref: Reaxys:3534981 "Reaxys Registry Number" xref: Reaxys:3534981 {source="Reaxys"} xref: Wikipedia:Cesium_chloride "Wikipedia" xref: Wikipedia:Cesium_chloride is_a: EFO:0004415 ! ionic salt relationship: has_role CHEBI:50514 ! vasoconstrictor agent relationship: has_role CHEBI:63060 ! phase-transfer catalyst property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "ClCs" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/ClH.Cs/h1H;/q;+1/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "AIYUHDOJVYHVIT-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "168.35800" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "167.87430" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Cl-].[Cs+]" xsd:string [Term] id: CHEBI:63043 name: potassium nitrate namespace: chebi_ontology def: "The inorganic nitrate salt of potassium." [] subset: 3_STAR synonym: "Kaliumnitrat" RELATED [ChemIDplus] synonym: "Niter" RELATED [ChemIDplus] synonym: "Nitrate of potash" RELATED [ChemIDplus] synonym: "Nitre" RELATED [ChemIDplus] synonym: "Nitric acid, potassium salt" RELATED [ChemIDplus] synonym: "potassium nitrate" EXACT IUPAC_NAME [IUPAC] synonym: "Salt peter" RELATED [ChemIDplus] synonym: "Saltpeter" RELATED [ChemIDplus] synonym: "saltpetre" RELATED [SUBMITTER] xref: CAS:7757-79-1 {source="ChemIDplus"} xref: KEGG:D02051 {source="SUBMITTER"} xref: PMID:20062955 {source="Europe PMC"} xref: PMID:21566718 {source="Europe PMC"} xref: PMID:21770249 {source="Europe PMC"} xref: PMID:21905227 {source="Europe PMC"} xref: Reaxys:16014598 {source="Reaxys"} xref: Wikipedia:Potassium_nitrate is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "KNO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/K.NO3/c;2-1(3)4/q+1;-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FGIUAXJPYTZDNR-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "101.10320" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "100.95152" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[K+].[O-][N+]([O-])=O" xsd:string [Term] id: CHEBI:63060 name: phase-transfer catalyst namespace: chebi_ontology def: "A catalyst that facilitates the migration of a reactant from one phase into another phase where reaction occurs." [] subset: 3_STAR synonym: "phase transfer catalyst" RELATED [ChEBI] synonym: "phase transfer catalysts" RELATED [ChEBI] synonym: "phase-transfer catalysts" RELATED [ChEBI] synonym: "PTC" RELATED [ChEBI] xref: Wikipedia:Phase_transfer_catalyst is_a: CHEBI:51086 ! chemical role relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:6343 name: labetalol namespace: chebi_ontology def: "A diastereoisomeric mixture of approximately equal amounts of all four possible stereoisomers ((R,S)-labetolol, (S,R)-labetolol, (S,S)-labetalol and (R,R)-labetalol). It is an adrenergic antagonist used to treat high blood pressure." [] subset: 3_STAR synonym: "2-hydroxy-5-{1-hydroxy-2-[(1-methyl-3-phenylpropyl)amino]ethyl}benzamide" EXACT IUPAC_NAME [IUPAC] synonym: "3-Carboxamido-4-hydroxy-alpha-((1-methyl-3-phenylpropylamino)methyl)benzyl alcohol" RELATED [ChemIDplus] synonym: "5-(1-Hydroxy-2-(1-methyl-3-phenylpropylamino)ethyl)salicylamide" RELATED [ChemIDplus] synonym: "kabetalol" RELATED [ChEBI] synonym: "Labetalol" EXACT [KEGG_COMPOUND] synonym: "labetalol" RELATED INN [ChEBI] synonym: "labetalolum" RELATED INN [ChEBI] xref: Beilstein:2948416 {source="Beilstein"} xref: CAS:36894-69-6 {source="ChemIDplus"} xref: CAS:36894-69-6 {source="NIST Chemistry WebBook"} xref: Drug_Central:1531 {source="DrugCentral"} xref: DrugBank:DB00598 xref: HMDB:HMDB0014736 xref: KEGG:C07063 xref: KEGG:D08106 xref: LINCS:LSM-1282 xref: Patent:DE2032642 xref: Patent:US4012444 xref: PMID:1447344 {source="Europe PMC"} xref: PMID:16795017 {source="Europe PMC"} xref: PMID:21908132 {source="Europe PMC"} xref: PMID:22300487 {source="Europe PMC"} xref: PMID:22528277 {source="Europe PMC"} xref: PMID:23055089 {source="Europe PMC"} xref: PMID:28166217 {source="Europe PMC"} xref: PMID:31643185 {source="Europe PMC"} xref: PMID:32709242 {source="Europe PMC"} xref: PMID:33210850 {source="Europe PMC"} xref: PMID:33424327 {source="Europe PMC"} xref: PMID:33638710 {source="Europe PMC"} xref: PMID:33893609 {source="Europe PMC"} xref: PMID:34217067 {source="Europe PMC"} xref: PMID:35075411 {source="Europe PMC"} xref: PMID:7295463 {source="Europe PMC"} xref: Reaxys:2948416 {source="Reaxys"} xref: Wikipedia:Labetalol is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H24N2O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "328.412" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "328.17869" xsd:string [Term] id: CHEBI:63490 name: explosive namespace: chebi_ontology def: "A substance capable of undergoing rapid and highly exothermic decomposition." [] subset: 3_STAR synonym: "explosive compound" RELATED [ChEBI] synonym: "explosive compounds" RELATED [ChEBI] synonym: "explosive material" RELATED [ChEBI] synonym: "explosives" RELATED [ChEBI] synonym: "explosives chemical" RELATED [ChEBI] synonym: "explosives chemicals" RELATED [ChEBI] xref: Wikipedia:Explosive_material is_a: CHEBI:51086 ! chemical role relationship: characteristic_of CHEBI:24431 ! chemical entity [Term] id: CHEBI:63599 name: fludarabine phosphate namespace: chebi_ontology alt_id: CHEBI:31616 def: "A purine arabinonucleoside monophosphate having 2-fluoroadenine as the nucleobase. A prodrug, it is rapidly dephosphorylated to 2-fluoro-ara-A and then phosphorylated intracellularly by deoxycytidine kinase to the active triphosphate, 2-fluoro-ara-ATP. Once incorporated into DNA, 2-fluoro-ara-ATP functions as a DNA chain terminator. It is used for the treatment of adult patients with B-cell chronic lymphocytic leukemia (CLL) who have not responded to, or whose disease has progressed during, treatment with at least one standard alkylating-agent containing regimenas." [] subset: 3_STAR synonym: "2-fluoro-9-(5-O-phosphono-beta-D-arabinofuranosyl)-9H-purin-6-amine" EXACT IUPAC_NAME [IUPAC] synonym: "2-Fluoro-ARA AMP" RELATED [ChemIDplus] synonym: "2-Fluoroadenine arabinoside 5'-monophosphate" RELATED [ChemIDplus] synonym: "2F-ara-AMP" RELATED [ChEBI] synonym: "9-beta-Arabinofuranosyl-2-fluoroadenine-5'-phosphate" RELATED [ChemIDplus] synonym: "9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-(dihydrogen phosphate)" RELATED [ChemIDplus] synonym: "9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-monophosphate" RELATED [ChemIDplus] synonym: "FAMP" RELATED [DrugBank] synonym: "Fludara" RELATED BRAND_NAME [ChEBI] synonym: "Fludarabine 5'-monophosphate" RELATED [DrugBank] synonym: "Fludarabine monophosphate" RELATED [DrugBank] xref: CAS:75607-67-9 {source="KEGG DRUG"} xref: CAS:75607-67-9 {source="ChemIDplus"} xref: ChemIDplus:75607-67-9 "CAS Registry Number" xref: CiteXplore:19283354 "PubMed citation" xref: CiteXplore:19567212 "PubMed citation" xref: CiteXplore:19862681 "PubMed citation" xref: CiteXplore:19915381 "PubMed citation" xref: CiteXplore:20215092 "PubMed citation" xref: CiteXplore:20467451 "PubMed citation" xref: CiteXplore:20514405 "PubMed citation" xref: CiteXplore:20686506 "PubMed citation" xref: CiteXplore:21296675 "PubMed citation" xref: CiteXplore:21725721 "PubMed citation" xref: CiteXplore:21736869 "PubMed citation" xref: CiteXplore:21909959 "PubMed citation" xref: Drug_Central:1189 {source="DrugCentral"} xref: DrugBank:DB01073 "DrugBank" xref: DrugBank:DB01073 xref: KEGG DRUG:75607-67-9 "CAS Registry Number" xref: KEGG DRUG:D01907 "KEGG DRUG" xref: KEGG:D01907 xref: MeSH:C042382 xref: NCIt:C1102 xref: Patent:WO2010046917 "Patent" xref: Patent:WO2010046917 xref: Patent:WO2010133629 "Patent" xref: Patent:WO2010133629 xref: PMID:10720130 {source="Europe PMC"} xref: PMID:19283354 {source="Europe PMC"} xref: PMID:19567212 {source="Europe PMC"} xref: PMID:19862681 {source="Europe PMC"} xref: PMID:19915381 {source="Europe PMC"} xref: PMID:20215092 {source="Europe PMC"} xref: PMID:20467451 {source="Europe PMC"} xref: PMID:20514405 {source="Europe PMC"} xref: PMID:20686506 {source="Europe PMC"} xref: PMID:21296675 {source="Europe PMC"} xref: PMID:21725721 {source="Europe PMC"} xref: PMID:21736869 {source="Europe PMC"} xref: PMID:21909959 {source="Europe PMC"} xref: PMID:8204523 {source="Europe PMC"} xref: PMID:8528057 {source="Europe PMC"} xref: PMID:8651523 {source="Europe PMC"} xref: Reaxys:8167686 "Reaxys Registry Number" xref: Reaxys:8167686 {source="Reaxys"} xref: SNOMEDCT:108765002 xref: Wikipedia:Fludarabine "Wikipedia" xref: Wikipedia:Fludarabine is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:26020 ! phosphate is_a: EFO:0004415 ! ionic salt relationship: has_role CHEBI:22587 ! antiviral agent relationship: has_role CHEBI:35221 ! antimetabolite relationship: has_role CHEBI:35610 ! antineoplastic agent relationship: has_role CHEBI:35705 ! immunosuppressive agent relationship: has_role CHEBI:50266 ! prodrug property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H13FN5O7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H13FN5O7P/c11-10-14-7(12)4-8(15-10)16(2-13-4)9-6(18)5(17)3(23-9)1-22-24(19,20)21/h2-3,5-6,9,17-18H,1H2,(H2,12,14,15)(H2,19,20,21)/t3-,5-,6+,9-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GIUYCYHIANZCFB-FJFJXFQQSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "365.21170" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "365.05366" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Nc1nc(F)nc2n(cnc12)[C@@H]1O[C@H](COP(O)(O)=O)[C@@H](O)[C@@H]1O" xsd:string [Term] id: CHEBI:63609 name: mefloquine namespace: chebi_ontology alt_id: CHEBI:6718 def: "A racemate composed of (+)-(11R,2'S)- and (-)-(11S,2'R)-enantiomers of mefloquine. An antimalarial agent which acts as a blood schizonticide; its mechanism of action is unknown." [] subset: 3_STAR synonym: "[(R*,S*)-2,8-bis(trifluoromethyl)quinolin-4-yl]-(2-piperidyl)methanol" RELATED [ChEBI] synonym: "[DL-erythro-alpha-2-Piperidyl-2,8-bis(trifluoromethyl)]-4-quinolinemethanol" RELATED [ChemIDplus] synonym: "mefloquina" RELATED INN [ChemIDplus] synonym: "mefloquine" RELATED INN [KEGG_DRUG] synonym: "mefloquinum" RELATED INN [ChemIDplus] synonym: "rac--(R)-[2,8-bis(trifluoromethyl)quinolin-4-yl][(2S)-piperidin-2-yl]methanol" EXACT IUPAC_NAME [IUPAC] synonym: "Racemic mefloquine" RELATED [ChemIDplus] xref: CAS:53230-10-7 {source="KEGG COMPOUND"} xref: CAS:53230-10-7 {source="ChemIDplus"} xref: ChemIDplus:53230-10-7 "CAS Registry Number" xref: CiteXplore:21118921 "PubMed citation" xref: CiteXplore:21853223 "PubMed citation" xref: CiteXplore:21861987 "PubMed citation" xref: CiteXplore:22006004 "PubMed citation" xref: CiteXplore:22217970 "PubMed citation" xref: CiteXplore:22223333 "PubMed citation" xref: CiteXplore:22232280 "PubMed citation" xref: CiteXplore:22233563 "PubMed citation" xref: CiteXplore:22236373 "PubMed citation" xref: CiteXplore:22245668 "PubMed citation" xref: CiteXplore:22246492 "PubMed citation" xref: DrugBank:DB00358 "DrugBank" xref: DrugBank:DB00358 xref: KEGG COMPOUND:53230-10-7 "CAS Registry Number" xref: KEGG COMPOUND:C07633 "KEGG COMPOUND" xref: KEGG DRUG:D04895 "KEGG DRUG" xref: KEGG:C07633 xref: KEGG:D04895 xref: MeSH:D015767 xref: NCIt:C61827 xref: PMID:21118921 {source="Europe PMC"} xref: PMID:21853223 {source="Europe PMC"} xref: PMID:21861987 {source="Europe PMC"} xref: PMID:22006004 {source="Europe PMC"} xref: PMID:22217970 {source="Europe PMC"} xref: PMID:22223333 {source="Europe PMC"} xref: PMID:22232280 {source="Europe PMC"} xref: PMID:22233563 {source="Europe PMC"} xref: PMID:22236373 {source="Europe PMC"} xref: PMID:22245668 {source="Europe PMC"} xref: PMID:22246492 {source="Europe PMC"} xref: Reaxys:5306591 "Reaxys Registry Number" xref: Reaxys:5306591 {source="Reaxys"} xref: SNOMEDCT:387505001 xref: SNOMEDCT:87567009 xref: Wikipedia:Mefloquine "Wikipedia" xref: Wikipedia:Mefloquine is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:38068 ! antimalarial [Term] id: CHEBI:63613 name: nevirapine namespace: chebi_ontology alt_id: CHEBI:7546 def: "A dipyridodiazepine that is 5,11-dihydro-6H-dipyrido[3,2-b:2',3'-e][1,4]diazepine which is substituted by methyl, oxo, and cyclopropyl groups at positions 4, 6, and 11, respectively. A non-nucleoside reverse transcriptase inhibitor with activity against HIV-1, it is used in combination with other antiretrovirals for the treatment of HIV infection." [] subset: 3_STAR synonym: "11-cyclopropyl-4-methyl-5,11-dihydro-6H-dipyrido[3,2-b:2',3'-e][1,4]diazepin-6-one" EXACT IUPAC_NAME [IUPAC] synonym: "11-cyclopropyl-5,11-dihydro-4-methyl-6H-dipyrido(3,2-b:2',3'-e)(1,4)diazepin-6-one" RELATED [ChemIDplus] synonym: "NEV" RELATED [DrugBank] synonym: "Nevirapine" EXACT [KEGG_COMPOUND] synonym: "nevirapine" RELATED INN [ChemIDplus] synonym: "NVP" RELATED [DrugBank] synonym: "Viramune" RELATED BRAND_NAME [KEGG_DRUG] xref: CAS:129618-40-2 {source="ChemIDplus"} xref: CAS:129618-40-2 {source="KEGG COMPOUND"} xref: ChemIDplus:129618-40-2 xref: CiteXplore:1712395 xref: DrugBank:DB00238 xref: KEGG COMPOUND:129618-40-2 xref: KEGG COMPOUND:C07263 xref: KEGG DRUG:D00435 xref: KEGG:C07263 xref: KEGG:D00435 xref: LINCS:LSM-5336 xref: MeSH:D019829 xref: NCIt:C29277 xref: PDBeChem:NVP xref: PMID:1712395 {source="Europe PMC"} xref: PMID:25017682 {source="Europe PMC"} xref: PMID:28782122 {source="Europe PMC"} xref: PMID:28786740 {source="Europe PMC"} xref: PMID:28819312 {source="Europe PMC"} xref: PMID:28827836 {source="Europe PMC"} xref: PMID:28835669 {source="Europe PMC"} xref: Reaxys:4757598 {source="Reaxys"} xref: SNOMEDCT:108704001 xref: SNOMEDCT:386898005 xref: Wikipedia:Nevirapine is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:22587 ! antiviral agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C15H14N4O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C15H14N4O/c1-9-6-8-17-14-12(9)18-15(20)11-3-2-7-16-13(11)19(14)10-4-5-10/h2-3,6-8,10H,4-5H2,1H3,(H,18,20)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NQDJXKOVJZTUJA-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "266.29790" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "266.11676" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cc1ccnc2N(C3CC3)c3ncccc3C(=O)Nc12" xsd:string [Term] id: CHEBI:63618 name: pravastatin namespace: chebi_ontology alt_id: CHEBI:8360 def: "A carboxylic ester resulting from the formal condensation of (S)-2-methylbutyric acid with the hydroxy group adjacent to the ring junction of (3R,5R)-7-[(1S,2S,6S,8S,8aR)-6,8-dihydroxy-2-methyl-1,2,6,7,8,8a-hexahydronaphthalen-1-yl]-3,5-dihydroxyheptanoic acid. Derived from microbial transformation of mevastatin, pravastatin is a reversible inhibitor of 3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA). The sodium salt is used for lowering cholesterol and preventing cardiovascular disease. It is one of the lower potency statins, but has the advantage of fewer side effects compared with lovastatin and simvastatin." [] subset: 3_STAR synonym: "(+)-(3R,5R)-3,5-dihydroxy-7-[(1S,2S,6S,8S,8aR)-6-hydroxy-2-methyl-8-{[(S)-2-methylbutyryl]oxy}-1,2,6,7,8,8a-hexahydro-1-naphthyl]heptanoic acid" RELATED [ChEBI] synonym: "(3R,5R)-3,5-dihydroxy-7-[(1S,2S,6S,8S,8aR)-6-hydroxy-2-methyl-8-{[(2S)-2-methylbutanoyl]oxy}-1,2,6,7,8,8a-hexahydronaphthalen-1-yl]heptanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "pravastatin" RELATED INN [ChemIDplus] synonym: "pravastatin acid" RELATED [ChEBI] synonym: "pravastatina" RELATED INN [ChemIDplus] synonym: "pravastatine" RELATED INN [ChemIDplus] synonym: "pravastatinum" RELATED INN [ChemIDplus] xref: CAS:81093-37-0 {source="KEGG COMPOUND"} xref: CAS:81093-37-0 {source="ChemIDplus"} xref: Drug_Central:2239 {source="DrugCentral"} xref: DrugBank:DB00175 xref: HMDB:HMDB0005022 xref: KEGG:C01844 xref: KEGG:D08410 xref: KNApSAcK:C00000565 xref: LINCS:LSM-3347 xref: PMID:21749370 {source="Europe PMC"} xref: PMID:21851379 {source="Europe PMC"} xref: PMID:25264019 {source="Europe PMC"} xref: Reaxys:4825538 {source="Reaxys"} xref: Wikipedia:Pravastatin is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C23H36O7" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C23H36O7/c1-4-13(2)23(29)30-20-11-17(25)9-15-6-5-14(3)19(22(15)20)8-7-16(24)10-18(26)12-21(27)28/h5-6,9,13-14,16-20,22,24-26H,4,7-8,10-12H2,1-3H3,(H,27,28)/t13-,14-,16+,17+,18+,19-,20-,22-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "TUZYXOIXSAXUGO-PZAWKZKUSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "424.52770" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "424.24610" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]12[C@H](C[C@H](O)C=C1C=C[C@H](C)[C@@H]2CC[C@@H](O)C[C@@H](O)CC(O)=O)OC(=O)[C@@H](C)CC" xsd:string [Term] id: CHEBI:63631 name: topiramate namespace: chebi_ontology alt_id: CHEBI:9633 def: "A hexose derivative that is 2,3:4,5-di-O-isopropylidene-beta-D-fructopyranose in which the hydroxy group has been converted to the corresponding sulfamate ester. It blocks voltage-dependent sodium channels and is used as an antiepileptic and for the prevention of migraine." [] subset: 3_STAR synonym: "2,3:4,5-bis-O-(1-methylethylidene)-beta-D-fructopyranose sulfamate" RELATED [ChemIDplus] synonym: "2,3:4,5-di-O-isopropylidene-beta-D-fructopyranose sulfamate" RELATED [ChemIDplus] synonym: "McN-4853" RELATED [ChemIDplus] synonym: "RWJ-17021" RELATED [ChemIDplus] synonym: "tipiramate" RELATED [DrugBank] synonym: "tipiramato" RELATED [DrugBank] synonym: "Topamax" RELATED BRAND_NAME [DrugBank] synonym: "Topiramate" EXACT [KEGG_COMPOUND] synonym: "topiramate" RELATED INN [ChemIDplus] synonym: "topiramato" RELATED INN [ChemIDplus] synonym: "topiramatum" RELATED INN [ChemIDplus] synonym: "TPM" RELATED [ChEBI] xref: CAS:97240-79-4 {source="ChemIDplus"} xref: CAS:97240-79-4 {source="KEGG COMPOUND"} xref: Drug_Central:2706 {source="DrugCentral"} xref: DrugBank:DB00273 xref: KEGG:C07502 xref: KEGG:D00537 xref: LINCS:LSM-5435 xref: Patent:US4513006 xref: PDBeChem:TOR xref: PMID:22233396 {source="Europe PMC"} xref: PMID:22249827 {source="Europe PMC"} xref: Reaxys:5988957 {source="Reaxys"} xref: Wikipedia:Topiramate is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12H21NO8S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C12H21NO8S/c1-10(2)18-7-5-16-12(6-17-22(13,14)15)9(8(7)19-10)20-11(3,4)21-12/h7-9H,5-6H2,1-4H3,(H2,13,14,15)/t7-,8-,9+,12+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KJADKKWYZYXHBB-XBWDGYHZSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "339.36200" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "339.09879" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC1(C)O[C@@H]2CO[C@@]3(COS(N)(=O)=O)OC(C)(C)O[C@H]3[C@@H]2O1" xsd:string [Term] id: CHEBI:63632 name: topotecan namespace: chebi_ontology alt_id: CHEBI:9634 def: "A pyranoindolizinoquinoline used as an antineoplastic agent. It is a derivative of camptothecin and works by binding to the topoisomerase I-DNA complex and preventing religation of these 328 single strand breaks." [] subset: 3_STAR synonym: "(4S)-10-[(dimethylamino)methyl]-4-ethyl-4,9-dihydroxy-1H-pyrano[3',4':6,7]indolizino[1,2-b]quinoline-3,14(4H,12H)-dione" EXACT IUPAC_NAME [IUPAC] synonym: "9-[(dimethylamino)methyl]-10-hydroxy-(4S)-camptothecin" RELATED [ChEBI] synonym: "Topotecan" EXACT [KEGG_COMPOUND] synonym: "topotecan" RELATED INN [ChemIDplus] synonym: "topotecane" RELATED INN [ChemIDplus] synonym: "topotecanum" RELATED INN [ChemIDplus] xref: CAS:123948-87-8 {source="KEGG COMPOUND"} xref: CAS:123948-87-8 {source="ChemIDplus"} xref: ChemIDplus:123948-87-8 "CAS Registry Number" xref: CiteXplore:20574789 "PubMed citation" xref: CiteXplore:21255983 "PubMed citation" xref: CiteXplore:21352915 "PubMed citation" xref: CiteXplore:21910214 "PubMed citation" xref: CiteXplore:22028494 "PubMed citation" xref: CiteXplore:22075006 "PubMed citation" xref: CiteXplore:22136714 "PubMed citation" xref: CiteXplore:22190039 "PubMed citation" xref: DrugBank:DB01030 "DrugBank" xref: DrugBank:DB01030 xref: KEGG COMPOUND:123948-87-8 "CAS Registry Number" xref: KEGG COMPOUND:C11158 "KEGG COMPOUND" xref: KEGG DRUG:D08618 "KEGG DRUG" xref: KEGG:C11158 xref: KEGG:D08618 xref: LINCS:LSM-5662 xref: MeSH:D019772 xref: NCIt:C1413 xref: Patent:EP321122 "Patent" xref: Patent:EP321122 xref: PDBeChem:TTC xref: PMID:20574789 {source="Europe PMC"} xref: PMID:21255983 {source="Europe PMC"} xref: PMID:21352915 {source="Europe PMC"} xref: PMID:21910214 {source="Europe PMC"} xref: PMID:22028494 {source="Europe PMC"} xref: PMID:22075006 {source="Europe PMC"} xref: PMID:22136714 {source="Europe PMC"} xref: PMID:22190039 {source="Europe PMC"} xref: Reaxys:4279441 "Reaxys Registry Number" xref: Reaxys:4279441 {source="Reaxys"} xref: SNOMEDCT:108779005 xref: SNOMEDCT:372536007 xref: Wikipedia:Topotecan "Wikipedia" xref: Wikipedia:Topotecan is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:35610 ! antineoplastic agent relationship: has_role CHEBI:50276 ! EC 5.99.1.2 (DNA topoisomerase) inhibitor property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C23H23N3O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C23H23N3O5/c1-4-23(30)16-8-18-20-12(9-26(18)21(28)15(16)11-31-22(23)29)7-13-14(10-25(2)3)19(27)6-5-17(13)24-20/h5-8,27,30H,4,9-11H2,1-3H3/t23-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UCFGDBYHRUNTLO-QHCPKHFHSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "421.44580" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "421.16377" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC[C@@]1(O)C(=O)OCc2c1cc1-c3nc4ccc(O)c(CN(C)C)c4cc3Cn1c2=O" xsd:string [Term] id: CHEBI:63916 name: iloprost namespace: chebi_ontology def: "A carbobicyclic compound that is prostaglandin I2 in which the endocyclic oxygen is replaced by a methylene group and in which the (1E,3S)-3-hydroxyoct-1-en-1-yl side chain is replaced by a (3R)-3-hydroxy-4-methyloct-1-en-6-yn-1-yl group. A synthetic analogue of prostacyclin, it is used as the trometamol salt (generally by intravenous infusion) for the treatment of peripheral vascular disease and pulmonary hypertension." [] subset: 3_STAR synonym: "(16R,S)-methyl-18,18,19,19-tetradehydro-6a-carbaprostaglandin I2" RELATED [ChemIDplus] synonym: "(5E)-5-[(3aS,4R,5R,6aS)-5-hydroxy-4-[(1E,3S)-3-hydroxy-4-methyloct-1-en-6-yn-1-yl]hexahydropentalen-2(1H)-ylidene]pentanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "iloprost" RELATED INN [ChemIDplus] synonym: "iloprostum" RELATED INN [ChemIDplus] xref: CAS:78919-13-8 {source="KEGG DRUG"} xref: ChEMBL:107494 xref: CiteXplore:14719835 xref: CiteXplore:15232651 xref: CiteXplore:15241524 xref: CiteXplore:19436672 xref: Drug_Central:1422 {source="DrugCentral"} xref: DrugBank:DB01088 xref: KEGG DRUG:78919-13-8 xref: KEGG DRUG:D02721 xref: KEGG:D02721 xref: MeSH:D016285 xref: NCIt:C48397 xref: Patent:DE2845770 xref: Patent:US4692464 xref: PMID:14719835 {source="Europe PMC"} xref: PMID:15232651 {source="Europe PMC"} xref: PMID:15241524 {source="Europe PMC"} xref: PMID:19436672 {source="Europe PMC"} xref: Reaxys:4329060 {source="Reaxys"} xref: SNOMEDCT:319452005 xref: SNOMEDCT:395740002 xref: Wikipedia:Iloprost is_a: CHEBI:24431 ! chemical entity relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H32O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C22H32O4/c1-3-4-7-15(2)20(23)11-10-18-19-13-16(8-5-6-9-22(25)26)12-17(19)14-21(18)24/h8,10-11,15,17-21,23-24H,5-7,9,12-14H2,1-2H3,(H,25,26)/b11-10+,16-8+/t15?,17-,18+,19-,20+,21+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HIFJCPQKFCZDDL-ACWOEMLNSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "360.48710" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "360.23006" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]1(\\C=C\\[C@@H](O)C(C)CC#CC)[C@H](O)C[C@@H]2C\\C(C[C@H]12)=C/CCCC(O)=O" xsd:string [Term] id: CHEBI:63917 name: symphytine oxide namespace: chebi_ontology def: "A pyrrolizine that is the N-oxido derivative of symphytine. Isolated from extracts of comfrey root." [] subset: 3_STAR synonym: "(1R,7aR)-7-({[(2S,3S)-2,3-dihydroxy-2-isopropylbutanoyl]oxy}methyl)-4-oxido-2,3,5,7a-tetrahydro-1H-pyrrolizin-1-yl (2E)-2-methylbut-2-enoate" EXACT IUPAC_NAME [IUPAC] synonym: "N-oxidosymphytine" RELATED [ChEBI] synonym: "symphytine N-oxide" RELATED [ChEBI] xref: CAS:72698-57-8 {source="ChemIDplus"} is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H31NO7" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H31NO7/c1-6-13(4)18(23)28-16-8-10-21(26)9-7-15(17(16)21)11-27-19(24)20(25,12(2)3)14(5)22/h6-7,12,14,16-17,22,25H,8-11H2,1-5H3/b13-6+/t14-,16+,17+,20-,21?/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "MTHHNSCIBYQVSB-FMYLHMKPSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "397.46260" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "397.21005" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12[C@@H](CC[N+]1([O-])CC=C2COC(=O)[C@](O)(C(C)C)[C@H](C)O)OC(=O)C(\\C)=C\\C" xsd:string [Term] id: CHEBI:63918 name: artesunate namespace: chebi_ontology def: "An artemisinin derivative that is the hemisuccinate ester of the lactol resulting from the reduction of the lactone carbonyl group of artemisinin. It is used, generally as the sodium salt, for the treatment of malaria." [] subset: 3_STAR synonym: "4-oxo-4-{[(3R,5aS,6R,8aS,9R,10S,12R,12aR)-3,6,9-trimethyldecahydro-3,12-epoxypyrano[4,3-j][1,2]benzodioxepin-10-yl]oxy}butanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "artesunate" RELATED INN [ChemIDplus] synonym: "artesunato" RELATED INN [ChemIDplus] synonym: "artesunatum" RELATED INN [ChemIDplus] synonym: "artesunic acid" RELATED [ChemIDplus] synonym: "AS" RELATED [ChEBI] synonym: "butanedioic acid, 1-[(3R,5aS,6R,8aS,9R,10S,12R,12aR)-decahydro-3,6,9-trimethyl-3,12-epoxy-12H-pyrano[4,3-j]-1,2-benzodioxepin-10-yl] ester" RELATED [NIST_Chemistry_WebBook] synonym: "dihydroqinghasu hemsuccinate" RELATED [ChemIDplus] xref: CAS:182824-33-5 {source="ChemIDplus"} xref: CAS:88495-63-0 {source="ChemIDplus"} xref: CAS:88495-63-0 {source="NIST Chemistry WebBook"} xref: CAS:88495-63-0 {source="KEGG DRUG"} xref: ChemIDplus:182824-33-5 xref: ChemIDplus:88495-63-0 xref: Chemspider:5293084 xref: Drug_Central:247 {source="DrugCentral"} xref: DrugBank:DB09274 xref: HMDB:HMDB0240267 xref: KEGG DRUG:88495-63-0 xref: KEGG DRUG:D02482 xref: KEGG:D02482 xref: MeSH:C039726 xref: NCIt:C73005 xref: NIST Chemistry WebBook:88495-63-0 xref: PDBeChem:D95 xref: PMID:26097885 {source="Europe PMC"} xref: PMID:30704910 {source="Europe PMC"} xref: PMID:33652561 {source="Europe PMC"} xref: PMID:33792170 {source="Europe PMC"} xref: PMID:33814617 {source="Europe PMC"} xref: PMID:33920029 {source="Europe PMC"} xref: Reaxys:6003212 {source="Reaxys"} xref: SNOMEDCT:432410005 xref: SNOMEDCT:432555000 xref: Wikipedia:Artesunate is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:24913 ! isoprenoid relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H28O8" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H28O8/c1-10-4-5-13-11(2)16(23-15(22)7-6-14(20)21)24-17-19(13)12(10)8-9-18(3,25-17)26-27-19/h10-13,16-17H,4-9H2,1-3H3,(H,20,21)/t10-,11-,12+,13+,16-,17-,18-,19-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FIHJKUPKCHIPAT-AHIGJZGOSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "384.425" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "384.17842" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12CC[C@@H](C)[C@]3([H])CC[C@@]4(C)OO[C@@]13[C@]([H])(O[C@@H](OC(=O)CCC(O)=O)[C@@H]2C)O4" xsd:string [Term] id: CHEBI:63919 name: 3,3,4,4,5,5,6,6,7,7,8,8,9,9,10,10,10-heptadecafluoro-1-decanol namespace: chebi_ontology def: "A fluorotelomer alcohol that is ethanol substituted at position 2 by a perfluorooctyl group." [] subset: 3_STAR synonym: "1,1,2,2-Tetrahydroperfluoro-1-decanol" RELATED [ChemIDplus] synonym: "1H,1H,2H,2H-Perfluorodecanol" RELATED [ChemIDplus] synonym: "2-(perfluorooctyl)ethanol" RELATED [ChEBI] synonym: "2-perfluorooctylethanol" RELATED [ChEBI] synonym: "3,3,4,4,5,5,6,6,7,7,8,8,9,9,10,10,10-heptadecafluorodecan-1-ol" EXACT IUPAC_NAME [IUPAC] synonym: "8:2 fluorotelomer alcohol" RELATED [ChEBI] synonym: "8:2 FTOH" RELATED [ChEBI] xref: CAS:678-39-7 {source="ChemIDplus"} xref: CAS:678-39-7 {source="NIST Chemistry WebBook"} xref: PMID:18186332 {source="Europe PMC"} xref: PMID:19879662 {source="Europe PMC"} xref: PMID:20518507 {source="Europe PMC"} xref: PMID:20721549 {source="Europe PMC"} xref: PMID:20836063 {source="Europe PMC"} xref: PMID:20836064 {source="Europe PMC"} xref: PMID:21984479 {source="Europe PMC"} xref: PMID:22120539 {source="Europe PMC"} xref: PMID:22208757 {source="Europe PMC"} xref: Reaxys:2227487 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H5F17O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H5F17O/c11-3(12,1-2-28)4(13,14)5(15,16)6(17,18)7(19,20)8(21,22)9(23,24)10(25,26)27/h28H,1-2H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JJUBFBTUBACDHW-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "464.11900" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "464.00689" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OCCC(F)(F)C(F)(F)C(F)(F)C(F)(F)C(F)(F)C(F)(F)C(F)(F)C(F)(F)F" xsd:string [Term] id: CHEBI:63921 name: 2-butoxyethanol namespace: chebi_ontology def: "A primary alcohol that is ethanol in which one of the methyl hydrogens is replaced by a butoxy group. A high-boiling (171degreeC) colourless liquid, it is used as a solvent for paints and inks, as well as in some dry cleaning solutions." [] subset: 3_STAR synonym: "2-butoxyethanol" EXACT IUPAC_NAME [IUPAC] synonym: "2-hydroxyethyl n-butyl ether" RELATED [NIST_Chemistry_WebBook] synonym: "3-oxa-1-heptanol" RELATED [ChemIDplus] synonym: "BuOCH2CH2OH" RELATED [ChEBI] synonym: "butoxyethanol" RELATED [ChemIDplus] synonym: "butyl cellosolve" RELATED [ChemIDplus] synonym: "butyl glycol" RELATED [NIST_Chemistry_WebBook] synonym: "butyl oxitol" RELATED [ChemIDplus] synonym: "ethylene glycol butyl ether" RELATED [NIST_Chemistry_WebBook] synonym: "ethylene glycol mono-n-butyl ether" RELATED [ChemIDplus] synonym: "ethylene glycol monobutyl ether" RELATED [ChEBI] synonym: "glycol butyl ether" RELATED [ChemIDplus] synonym: "n-butoxyethanol" RELATED [ChemIDplus] synonym: "O-butyl ethylene glycol" RELATED [ChemIDplus] xref: CAS:111-76-2 {source="KEGG COMPOUND"} xref: CAS:111-76-2 {source="ChemIDplus"} xref: CAS:111-76-2 {source="NIST Chemistry WebBook"} xref: HMDB:HMDB0031327 xref: KEGG:C19355 xref: Patent:US2448767 xref: PMID:15371241 {source="Europe PMC"} xref: PMID:15705494 {source="Europe PMC"} xref: PMID:22330932 {source="Europe PMC"} xref: PMID:9372852 {source="Europe PMC"} xref: PPDB:1364 xref: Reaxys:1732511 {source="Reaxys"} xref: Wikipedia:2-Butoxyethanol is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H14O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H14O2/c1-2-3-5-8-6-4-7/h7H,2-6H2,1H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "POAOYUHQDCAZBD-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "118.17420" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "118.09938" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCOCCO" xsd:string [Term] id: CHEBI:63924 name: riddelliine namespace: chebi_ontology def: "A macrodiolide that is 13,19-didehydrosenecionan bearing two additional hydroxy substituents at positions 12 and 18 as well as two additional oxo groups at positions 11 and 16." [] subset: 3_STAR synonym: "(15Z)-12,18-dihydroxy-13,19-didehydrosenecionan-11,16-dione" EXACT IUPAC_NAME [IUPAC] synonym: "18-Hydroxyseneciphylline" RELATED [KEGG_COMPOUND] synonym: "Riddeliin" RELATED [ChemIDplus] synonym: "Riddeliine" RELATED [ChemIDplus] synonym: "Riddelline" RELATED [ChemIDplus] xref: CAS:23246-96-0 {source="KEGG COMPOUND"} xref: CAS:23246-96-0 {source="NIST Chemistry WebBook"} xref: CAS:23246-96-0 {source="ChemIDplus"} xref: ChemIDplus:23246-96-0 xref: CiteXplore:11170513 xref: CiteXplore:12140173 xref: CiteXplore:14580895 xref: CiteXplore:18842697 xref: CiteXplore:19412857 xref: CiteXplore:1949039 xref: CiteXplore:20078085 xref: CiteXplore:20737008 xref: CiteXplore:2083039 xref: CiteXplore:21170807 xref: CiteXplore:21822322 xref: CiteXplore:21976715 xref: CiteXplore:3507253 xref: KEGG:C10375 xref: KNApSAcK:C00002110 xref: MeSH:C013672 xref: NIST Chemistry WebBook:23246-96-0 xref: PMID:11170513 {source="Europe PMC"} xref: PMID:12140173 {source="Europe PMC"} xref: PMID:14580895 {source="Europe PMC"} xref: PMID:18842697 {source="Europe PMC"} xref: PMID:19412857 {source="Europe PMC"} xref: PMID:1949039 {source="Europe PMC"} xref: PMID:20078085 {source="Europe PMC"} xref: PMID:20737008 {source="Europe PMC"} xref: PMID:2083039 {source="Europe PMC"} xref: PMID:21170807 {source="Europe PMC"} xref: PMID:21822322 {source="Europe PMC"} xref: PMID:21976715 {source="Europe PMC"} xref: PMID:3507253 {source="Europe PMC"} xref: Reaxys:1042830 {source="Reaxys"} xref: Wikipedia:Riddelliine is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:25435 ! mutagen relationship: has_role EFO:0004457 ! carcinogen role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H23NO6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H23NO6/c1-3-12-8-11(2)18(23,10-20)17(22)24-9-13-4-6-19-7-5-14(15(13)19)25-16(12)21/h3-4,14-15,20,23H,2,5-10H2,1H3/b12-3-/t14-,15-,18-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SVCNNZDUGWLODJ-RAYFHMIRSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "349.37830" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "349.15254" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12[C@H]3CCN1CC=C2COC(=O)[C@@](O)(CO)C(=C)C\\C(=C\\C)C(=O)O3" xsd:string [Term] id: CHEBI:63925 name: latanoprost free acid namespace: chebi_ontology def: "A prostaglandin Falpha that is an analogue of prostaglandin F2alpha in which the pentyl group has been replaced by 2-phenylethyl and where the the 13,14-double bond has undergone formal hydrogenation. Its isopropyl ester prodrug, latanoprost, is used in the treatment of open-angle glaucoma and ocular hypertension." [] subset: 3_STAR synonym: "(5Z)-7-{(1R,2R,3R,5S)-3,5-dihydroxy-2-[(3R)-3-hydroxy-5-phenylpentyl]cyclopentyl}hept-5-enoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "13,14-dihydro-17-phenyl-18,19,20-trinor-PGF2alpha" RELATED [ChEBI] synonym: "latanoprost acid" RELATED [ChEBI] synonym: "Phxa 85" RELATED [ChemIDplus] xref: CAS:41639-83-2 {source="ChemIDplus"} xref: ChEMBL:231987 xref: ChemIDplus:41639-83-2 xref: CiteXplore:18451496 xref: CiteXplore:19084521 xref: CiteXplore:19289115 xref: CiteXplore:20019365 xref: CiteXplore:21396362 xref: CiteXplore:21788077 xref: CiteXplore:21791206 xref: CiteXplore:22124989 xref: CiteXplore:22136089 xref: MeSH:C109345 xref: PMID:18451496 {source="Europe PMC"} xref: PMID:19084521 {source="Europe PMC"} xref: PMID:19289115 {source="Europe PMC"} xref: PMID:20019365 {source="Europe PMC"} xref: PMID:21396362 {source="Europe PMC"} xref: PMID:21788077 {source="Europe PMC"} xref: PMID:21791206 {source="Europe PMC"} xref: PMID:22124989 {source="Europe PMC"} xref: PMID:22136089 {source="Europe PMC"} xref: Reaxys:5911495 {source="Reaxys"} is_a: CHEBI:18059 ! lipid is_a: EFO:0004416 ! acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C23H34O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C23H34O5/c24-18(13-12-17-8-4-3-5-9-17)14-15-20-19(21(25)16-22(20)26)10-6-1-2-7-11-23(27)28/h1,3-6,8-9,18-22,24-26H,2,7,10-16H2,(H,27,28)/b6-1-/t18-,19+,20+,21-,22+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HNPFPERDNWXAGS-NFVOFSAMSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "390.51310" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "390.24062" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O[C@H](CC[C@H]1[C@H](O)C[C@H](O)[C@@H]1C\\C=C/CCCC(O)=O)CCc1ccccc1" xsd:string [Term] id: CHEBI:63927 name: cinidon ethyl namespace: chebi_ontology def: "A carboxylic ester and organochlorine compound that is the ethyl ester of cinidon." [] subset: 3_STAR synonym: "cinidon-ethyl" RELATED [ChEBI] synonym: "ethyl (2Z)-2-chloro-3-[2-chloro-5-(1,3-dioxo-1,3,4,5,6,7-hexahydro-2H-isoindol-2-yl)phenyl]acrylate" RELATED [IUPAC] synonym: "ethyl (2Z)-2-chloro-3-[2-chloro-5-(1,3-dioxo-1,3,4,5,6,7-hexahydro-2H-isoindol-2-yl)phenyl]prop-2-enoate" EXACT IUPAC_NAME [IUPAC] xref: CAS:132057-06-8 {source="ChemIDplus"} xref: CAS:142891-20-1 {source="ChemIDplus"} xref: ChemIDplus:132057-06-8 xref: ChemIDplus:142891-20-1 xref: Patent:DE3603789 xref: Patent:US5062884 xref: PPDB:162 xref: Reaxys:8446817 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:33286 ! agrochemical property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H17Cl2NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H17Cl2NO4/c1-2-26-19(25)16(21)10-11-9-12(7-8-15(11)20)22-17(23)13-5-3-4-6-14(13)18(22)24/h7-10H,2-6H2,1H3/b16-10-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NNKKTZOEKDFTBU-YBEGLDIGSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "394.24900" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "393.05346" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCOC(=O)C(\\Cl)=C\\c1cc(ccc1Cl)N1C(=O)C2=C(CCCC2)C1=O" xsd:string [Term] id: CHEBI:63928 name: menadione sodium sulfonate namespace: chebi_ontology def: "An organic sodium salt that is the monosodium salt of menadione sulfonate. A synthetic naphthoquinone without the isoprenoid side chain and biological activity, but can be converted into active vitamin K2, menaquinone, after alkylation in vivo." [] subset: 3_STAR synonym: "1,2,3,4-Tetrahydro-2-methyl-1,4-dioxo-2-naphthalenesulfonic acid sodium salt" RELATED [ChemIDplus] synonym: "2,3-Dihydro-2-methyl-1,4-naphthoquinone-2-sulfonate sodium" RELATED [ChemIDplus] synonym: "2-Methyl-1,4-naphthoquinone sodium bisulfite" RELATED [ChemIDplus] synonym: "2-Methyl-1,4-naphthoquinone sodium hydrogen sulfite" RELATED [ChemIDplus] synonym: "2-Methylnaphthoquinone sodium hydrogen sulfite" RELATED [ChemIDplus] synonym: "bisulfite sodique de menadione" RELATED INN [ChemIDplus] synonym: "bisulfito sodico de menadiona" RELATED INN [ChemIDplus] synonym: "Menachinonum natrium bisulfurosum" RELATED [ChemIDplus] synonym: "menadione sodium bisulfite" RELATED INN [KEGG_DRUG] synonym: "Menadione sodium bisulfite anhydrous" RELATED [ChemIDplus] synonym: "Menadione sodium hydrogen sulfite" RELATED [ChemIDplus] synonym: "menadioni natrii bisulfis" RELATED INN [ChemIDplus] synonym: "Menadioni natrii hydrogensulfis" RELATED [ChemIDplus] synonym: "Menaphthone sodium bisulfite" RELATED [ChemIDplus] synonym: "Menaphthone sodium bisulphite" RELATED [ChemIDplus] synonym: "Natrium menadionsulfonicum" RELATED [ChemIDplus] synonym: "sodium 2-methyl-1,4-dioxo-1,2,3,4-tetrahydronaphthalene-2-sulfonate" EXACT IUPAC_NAME [IUPAC] synonym: "sodium dihydromenadione-2-sulfonate" RELATED [ChEBI] synonym: "Sodium menadione bisulfite" RELATED [ChemIDplus] synonym: "Vitamin K3 sodium bisulfite" RELATED [ChemIDplus] xref: CAS:130-37-0 {source="KEGG COMPOUND"} xref: CAS:130-37-0 {source="ChemIDplus"} xref: ChemIDplus:130-37-0 xref: KEGG COMPOUND:130-37-0 xref: KEGG COMPOUND:C18378 xref: KEGG DRUG:D08177 xref: KEGG:C18378 xref: KEGG:D08177 xref: NCIt:C83928 xref: PMID:24106670 {source="Europe PMC"} xref: PMID:28166217 {source="Europe PMC"} xref: PPDB:1381 xref: Reaxys:3922400 {source="Reaxys"} is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C11H9NaO5S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C11H10O5S.Na/c1-11(17(14,15)16)6-9(12)7-4-2-3-5-8(7)10(11)13;/h2-5H,6H2,1H3,(H,14,15,16);/q;+1/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XDPFHGWVCTXHDX-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "276.24100" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "276.00684" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Na+].CC1(CC(=O)c2ccccc2C1=O)S([O-])(=O)=O" xsd:string [Term] id: CHEBI:63933 name: Aroclor 1254 namespace: chebi_ontology def: "A mixture of polychlorobiphenyls of unspecified composition, containing 54% chlorine (X = Cl or H)." [] subset: 3_STAR synonym: "Chlorierte biphenyle, chlorgehalt 54%" RELATED [ChemIDplus] synonym: "Chlorodiphenyl (54% Chlorine)" RELATED [ChemIDplus] synonym: "Diphenyle chlore, 54% de chlore" RELATED [ChemIDplus] synonym: "Polychlorobiphenyls (54% chlorine)" RELATED [ChemIDplus] xref: CAS:11097-69-1 {source="ChemIDplus"} xref: ChemIDplus:11097-69-1 xref: CiteXplore:19486918 xref: CiteXplore:19772856 xref: CiteXplore:19945719 xref: CiteXplore:21476350 xref: CiteXplore:21613298 xref: CiteXplore:21664404 xref: CiteXplore:21748531 xref: CiteXplore:21856390 xref: CiteXplore:21937113 xref: CiteXplore:22013134 xref: CiteXplore:22044768 xref: CiteXplore:22082211 xref: CiteXplore:22094459 xref: CiteXplore:22298839 xref: MeSH:D020111 xref: PMID:19486918 {source="Europe PMC"} xref: PMID:19772856 {source="Europe PMC"} xref: PMID:19945719 {source="Europe PMC"} xref: PMID:21476350 {source="Europe PMC"} xref: PMID:21613298 {source="Europe PMC"} xref: PMID:21664404 {source="Europe PMC"} xref: PMID:21748531 {source="Europe PMC"} xref: PMID:21856390 {source="Europe PMC"} xref: PMID:21937113 {source="Europe PMC"} xref: PMID:22013134 {source="Europe PMC"} xref: PMID:22044768 {source="Europe PMC"} xref: PMID:22082211 {source="Europe PMC"} xref: PMID:22094459 {source="Europe PMC"} xref: PMID:22298839 {source="Europe PMC"} xref: Reaxys:8188376 {source="Reaxys"} xref: SNOMEDCT:115530007 is_a: CHEBI:24431 ! chemical entity relationship: has_role EFO:0004457 ! carcinogen role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12X10" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "144.12840" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "144.00000" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "*c1c(*)c(*)c(c(*)c1*)-c1c(*)c(*)c(*)c(*)c1*" xsd:string [Term] id: CHEBI:63934 name: bathocuproine disulfonic acid namespace: chebi_ontology def: "A phenanthroline that consists of 1,10-phenanthroline bearing two methyl groups at position 2 and 9 as well as two 4-sulfophenyl groups at positions 4 and 7." [] subset: 3_STAR synonym: "4,4'-(2,9-dimethyl-1,10-phenanthroline-4,7-diyl)dibenzenesulfonic acid" EXACT IUPAC_NAME [IUPAC] synonym: "Bathocuproine disulfonate" RELATED [ChemIDplus] synonym: "Bathocuproine sulfonate" RELATED [ChemIDplus] synonym: "Bathocuproinedisulphonic acid" RELATED [ChemIDplus] xref: CAS:73348-75-1 {source="ChemIDplus"} xref: ChemIDplus:73348-75-1 xref: CiteXplore:17961528 xref: CiteXplore:18294460 xref: CiteXplore:18991386 xref: CiteXplore:19345716 xref: CiteXplore:19551996 xref: CiteXplore:19888908 xref: CiteXplore:21084060 xref: CiteXplore:21258123 xref: CiteXplore:22077885 xref: CiteXplore:4018232 xref: MeSH:C028559 xref: PMID:17961528 {source="Europe PMC"} xref: PMID:18294460 {source="Europe PMC"} xref: PMID:18991386 {source="Europe PMC"} xref: PMID:19345716 {source="Europe PMC"} xref: PMID:19551996 {source="Europe PMC"} xref: PMID:19888908 {source="Europe PMC"} xref: PMID:21084060 {source="Europe PMC"} xref: PMID:21258123 {source="Europe PMC"} xref: PMID:22077885 {source="Europe PMC"} xref: PMID:4018232 {source="Europe PMC"} xref: Reaxys:9595708 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C26H20N2O6S2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C26H20N2O6S2/c1-15-13-23(17-3-7-19(8-4-17)35(29,30)31)21-11-12-22-24(14-16(2)28-26(22)25(21)27-15)18-5-9-20(10-6-18)36(32,33)34/h3-14H,1-2H3,(H,29,30,31)(H,32,33,34)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FBKZHCDISZZXDK-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "520.57700" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "520.07628" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cc1cc(-c2ccc(cc2)S(O)(=O)=O)c2ccc3c(cc(C)nc3c2n1)-c1ccc(cc1)S(O)(=O)=O" xsd:string [Term] id: CHEBI:63935 name: cyclazosin hydrochloride namespace: chebi_ontology def: "A hydrochloride composed of equimolar amounts of cyclazosin and hydrogen chloride." [] subset: 3_STAR synonym: "[(4aR,8aS)-4-(4-amino-6,7-dimethoxyquinazolin-2-yl)octahydroquinoxalin-1(2H)-yl](2-furyl)methanone hydrochloride" EXACT IUPAC_NAME [IUPAC] xref: Reaxys:10227786 {source="Reaxys"} is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C23H28ClN5O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C23H27N5O4.ClH/c1-30-19-12-14-15(13-20(19)31-2)25-23(26-21(14)24)28-10-9-27(16-6-3-4-7-17(16)28)22(29)18-8-5-11-32-18;/h5,8,11-13,16-17H,3-4,6-7,9-10H2,1-2H3,(H2,24,25,26);1H/t16-,17+;/m0./s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SKDIDWRQDBIQBS-MCJVGQIASA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "473.95300" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "473.18298" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cl.[H][C@]12CCCC[C@@]1([H])N(CCN2C(=O)c1ccco1)c1nc(N)c2cc(OC)c(OC)cc2n1" xsd:string [Term] id: CHEBI:63938 name: cadmium dichloride hemipentahydrate namespace: chebi_ontology def: "A hydrate that is the hemipentahydrate form of cadmium dichloride." [] subset: 3_STAR synonym: "Cadmium chloride hydrate" RELATED [ChemIDplus] synonym: "Cadmium chloride hydrate (1:2.5)" RELATED [ChemIDplus] synonym: "Cadmium chloride pentahydrate" RELATED [ChemIDplus] synonym: "Cadmium chloride, hydrate (2:5)" RELATED [ChemIDplus] synonym: "cadmium dichloride hydrate" RELATED [ChEBI] synonym: "CdCl2.2.5H2O" RELATED [ChEBI] synonym: "dichlorocadmium--water (2/5)" EXACT IUPAC_NAME [IUPAC] xref: CAS:7790-78-5 {source="ChemIDplus"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "Cd2Cl4H10O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/2Cd.4ClH.5H2O/h;;4*1H;5*1H2/q2*+2;;;;;;;;;/p-4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DZVRGWYMCGLNKJ-UHFFFAOYSA-J" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "456.71000" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "457.73496" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O.O.O.O.O.Cl[Cd]Cl.Cl[Cd]Cl" xsd:string [Term] id: CHEBI:63939 name: sodium tungstate dihydrate namespace: chebi_ontology def: "A hydrate that is the dihydrate form of sodium tungstate. Combines with hydrogen peroxide for the oxidation of secondary amines to nitrones" [] subset: 3_STAR synonym: "Na2WO4.2H2O" RELATED [ChEBI] synonym: "sodium dioxido(dioxo)tungsten--water (1/2)" EXACT IUPAC_NAME [IUPAC] synonym: "sodium orthotungstate dihydrate" RELATED [ChEBI] synonym: "sodium tungstate(VI) dihydrate" RELATED [ChEBI] synonym: "Tungstic acid, sodium salt, dihydrate" RELATED [ChemIDplus] xref: CAS:10213-10-2 {source="NIST Chemistry WebBook"} xref: CAS:10213-10-2 {source="ChemIDplus"} xref: Reaxys:13157884 {source="Reaxys"} xref: Wikipedia:Sodium_tungstate is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "H4Na2O6W" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/2Na.2H2O.4O.W/h;;2*1H2;;;;;/q2*+1;;;;;2*-1;" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WPZFLQRLSGVIAA-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "329.85000" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "329.93126" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O.O.[Na+].[Na+].[O-][W]([O-])(=O)=O" xsd:string [Term] id: CHEBI:63940 name: sodium tungstate namespace: chebi_ontology def: "An inorganic sodium salt having tungstate as the counterion. Combines with hydrogen peroxide for the oxidation of secondary amines to nitrones." [] subset: 3_STAR synonym: "Disodium tetraoxotungstate" RELATED [ChemIDplus] synonym: "Disodium tungstate" RELATED [ChemIDplus] synonym: "Na2WO4" RELATED [ChEBI] synonym: "sodium tetraoxotungstate(VI)" RELATED [ChEBI] synonym: "Sodium tungstate(VI)" RELATED [ChemIDplus] synonym: "Sodium tungsten oxide" RELATED [ChemIDplus] synonym: "Sodium wolframate" RELATED [ChemIDplus] synonym: "Tungstic acid, disodium salt" RELATED [ChemIDplus] xref: CAS:13472-45-2 {source="ChemIDplus"} xref: Reaxys:11343345 {source="Reaxys"} xref: Wikipedia:Sodium_tungstate is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "Na2O4W" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/2Na.4O.W/q2*+1;;;2*-1;" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XMVONEAAOPAGAO-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "293.82000" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "293.91013" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Na+].[Na+].[O-][W]([O-])(=O)=O" xsd:string [Term] id: CHEBI:63942 name: ferrozine monosodium salt namespace: chebi_ontology def: "An organic sodium salt that is the monosodium salt of 4,4'-[3-(pyridin-2-yl)-1,2,4-triazine-5,6-diyl]dibenzenesulfonic acid." [] subset: 3_STAR synonym: "3-(2-Pyridyl)-5,6-bis(4-sulfophenyl)-1,2,4-triazine, monosodium salt" RELATED [ChemIDplus] synonym: "Ferrozine sodium" RELATED [ChemIDplus] synonym: "Ferrozine sodium salt" RELATED [ChemIDplus] synonym: "hydrogen sodium 4,4'-[3-(pyridin-2-yl)-1,2,4-triazine-5,6-diyl]dibenzenesulfonate" EXACT IUPAC_NAME [IUPAC] synonym: "Sodium (3-(pyridin-2-yl)-1,2,4-triazine-5,6-diyl)bis(benzene-4,4'-sulphonate)" RELATED [ChemIDplus] synonym: "sodium 4-[3-pyridin-2-yl-5-(4-sulfophenyl)-1,2,4-triazin-6-yl]benzenesulfonate" RELATED [IUPAC] xref: CAS:69898-45-9 {source="ChemIDplus"} xref: PMID:9400694 {source="Europe PMC"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H13N4NaO6S2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H14N4O6S2.Na/c25-31(26,27)15-8-4-13(5-9-15)18-19(14-6-10-16(11-7-14)32(28,29)30)23-24-20(22-18)17-3-1-2-12-21-17;/h1-12H,(H,25,26,27)(H,28,29,30);/q;+1/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ZGVNYCXXBQPDPQ-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "492.46000" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "492.01742" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H+].[Na+].[O-]S(=O)(=O)c1ccc(cc1)-c1nnc(nc1-c1ccc(cc1)S([O-])(=O)=O)-c1ccccn1" xsd:string [Term] id: CHEBI:63948 name: trimethyltin namespace: chebi_ontology def: "An organotin compound that consists of stannane in which three of the four hydrogens are substituted by methyl groups." [] subset: 3_STAR synonym: "HSnMe3" RELATED [ChEBI] synonym: "Me3SnH" RELATED [ChEBI] synonym: "trimethylstannane" EXACT IUPAC_NAME [IUPAC] synonym: "trimethyltin hydride" RELATED [ChEBI] xref: CAS:1631-73-8 {source="NIST Chemistry WebBook"} xref: CAS:1631-73-8 {source="ChemIDplus"} xref: CAS:17272-57-0 {source="ChemIDplus"} xref: CAS:17272-57-0 {source="NIST Chemistry WebBook"} xref: ChemIDplus:1631-73-8 xref: ChemIDplus:17272-57-0 xref: CiteXplore:21378284 xref: CiteXplore:21414367 xref: CiteXplore:21672578 xref: CiteXplore:21688048 xref: CiteXplore:21804822 xref: CiteXplore:21871932 xref: CiteXplore:21979070 xref: CiteXplore:22108043 xref: CiteXplore:22130242 xref: CiteXplore:22245015 xref: CiteXplore:22309794 xref: MeSH:C046488 xref: NIST Chemistry WebBook:1631-73-8 xref: NIST Chemistry WebBook:17272-57-0 xref: PMID:21378284 {source="Europe PMC"} xref: PMID:21414367 {source="Europe PMC"} xref: PMID:21672578 {source="Europe PMC"} xref: PMID:21688048 {source="Europe PMC"} xref: PMID:21804822 {source="Europe PMC"} xref: PMID:21871932 {source="Europe PMC"} xref: PMID:21979070 {source="Europe PMC"} xref: PMID:22108043 {source="Europe PMC"} xref: PMID:22130242 {source="Europe PMC"} xref: PMID:22245015 {source="Europe PMC"} xref: PMID:22309794 {source="Europe PMC"} xref: Reaxys:4123006 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:27026 ! toxin property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H10Sn" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/3CH3.Sn.H/h3*1H3;;" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UKHQRARQNZOXRL-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "164.82200" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "165.98045" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][Sn](C)(C)C" xsd:string [Term] id: CHEBI:63949 name: 2,3-bis(4-hydroxyphenyl)propionitrile namespace: chebi_ontology def: "A nitrile that is acetonitrile in which one of the hydrogens is replaced by a 4-hydroxyphenyl group while a second hydrogen is replaced by a 4-hydroxybenzyl group. It is a specific agonist for estrogen receptor beta (ERbeta)." [] subset: 3_STAR synonym: "2,3-bis(4-hydroxyphenyl)-propionitrile" RELATED [ChEBI] synonym: "2,3-bis(4-hydroxyphenyl)propanenitrile" EXACT IUPAC_NAME [IUPAC] synonym: "2,3-bis(p-hydroxyphenyl)propionitrile" RELATED [ChemIDplus] xref: CAS:1428-67-7 {source="ChemIDplus"} xref: LINCS:LSM-1423 xref: PMID:21268084 {source="Europe PMC"} xref: PMID:21397017 {source="Europe PMC"} xref: PMID:21636213 {source="Europe PMC"} xref: PMID:21712365 {source="Europe PMC"} xref: Reaxys:3337109 {source="Reaxys"} is_a: CHEBI:33853 ! phenols property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C15H13NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C15H13NO2/c16-10-13(12-3-7-15(18)8-4-12)9-11-1-5-14(17)6-2-11/h1-8,13,17-18H,9H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GHZHWDWADLAOIQ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "239.26920" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "239.09463" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Oc1ccc(CC(C#N)c2ccc(O)cc2)cc1" xsd:string [Term] id: CHEBI:63952 name: arsenic trichloride namespace: chebi_ontology def: "A arsenic molecular entity that consists of a single arsenic atom bearing three chloro substituents." [] subset: 3_STAR synonym: "Arsenic butter" RELATED [ChemIDplus] synonym: "Arsenic chloride" RELATED [ChemIDplus] synonym: "Arsenic(III) chloride" RELATED [ChemIDplus] synonym: "Arsenic(III) trichloride" RELATED [ChemIDplus] synonym: "Arsenious chloride" RELATED [ChemIDplus] synonym: "arsenous chloride" EXACT IUPAC_NAME [IUPAC] synonym: "Arsenous trichloride" RELATED [ChemIDplus] synonym: "AsCl3" RELATED [NIST_Chemistry_WebBook] synonym: "Butter of arsenic" RELATED [ChemIDplus] synonym: "Caustic arsenic chloride" RELATED [ChemIDplus] synonym: "Caustic oil of arsenic" RELATED [ChemIDplus] synonym: "Chlorure arsenieux" RELATED [ChemIDplus] synonym: "Chlorure d'arsenic" RELATED [ChemIDplus] synonym: "Trichloroarsine" RELATED [ChemIDplus] synonym: "Trichlorure d'arsenic" RELATED [ChemIDplus] xref: CAS:7784-34-1 {source="ChemIDplus"} xref: CAS:7784-34-1 {source="NIST Chemistry WebBook"} xref: ChemIDplus:7784-34-1 xref: CiteXplore:19071824 xref: CiteXplore:20306073 xref: CiteXplore:4475013 xref: CiteXplore:936786 xref: MeSH:C050510 xref: NIST Chemistry WebBook:7784-34-1 xref: PMID:19071824 {source="Europe PMC"} xref: PMID:20306073 {source="Europe PMC"} xref: PMID:4475013 {source="Europe PMC"} xref: PMID:936786 {source="Europe PMC"} xref: Reaxys:3903069 {source="Reaxys"} xref: Wikipedia:Arsenic_trichloride is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "AsCl3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/AsCl3/c2-1(3)4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OEYOHULQRFXULB-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "181.28100" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "179.82815" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cl[As](Cl)Cl" xsd:string [Term] id: CHEBI:63954 name: ionomycin namespace: chebi_ontology def: "A very long-chain fatty acid that is docosa-10,16-dienoic acid which is substituted by methyl groups at positions 4, 6, 8, 12, 14, 18 and 20, by hydroxy groups at positions 11, 19 and 21, and by a (2',5-dimethyloctahydro-2,2'-bifuran-5-yl)ethanol group at position 21. An ionophore produced by Streptomyces conglobatus, it is used in research to raise the intracellular level of Ca(2+) and as a research tool to understand Ca(2+) transport across biological membranes." [] subset: 3_STAR synonym: "(4R,6S,8S,10Z,12R,14R,16E,18R,19R,20S,21S)-11,19,21-trihydroxy-22-{(2S,2'R,5S,5'S)-5'-[(1R)-1-hydroxyethyl]-2,5'-dimethyloctahydro-2,2'-bifuran-5-yl}-4,6,8,12,14,18,20-heptamethyl-9-oxodocosa-10,16-dienoic acid" EXACT IUPAC_NAME [IUPAC] xref: CAS:56092-81-0 {source="ChemIDplus"} xref: Patent:US3873693 xref: PMID:19079959 {source="Europe PMC"} xref: PMID:19496091 {source="Europe PMC"} xref: Reaxys:3642126 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:35366 ! fatty acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C41H72O9" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C41H72O9/c1-25(21-29(5)34(43)24-35(44)30(6)22-27(3)20-26(2)14-15-38(46)47)12-11-13-28(4)39(48)31(7)36(45)23-33-16-18-41(10,49-33)37-17-19-40(9,50-37)32(8)42/h11,13,24-33,36-37,39,42-43,45,48H,12,14-23H2,1-10H3,(H,46,47)/b13-11+,34-24-/t25-,26-,27+,28-,29-,30+,31+,32-,33+,36+,37-,39-,40+,41+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PGHMRUGBZOYCAA-ADZNBVRBSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "709.00500" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "708.51763" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]1(CC[C@](C)(O1)[C@@]1([H])CC[C@](C)(O1)[C@@H](C)O)C[C@H](O)[C@H](C)[C@H](O)[C@H](C)\\C=C\\C[C@@H](C)C[C@@H](C)C(\\O)=C\\C(=O)[C@@H](C)C[C@@H](C)C[C@H](C)CCC(O)=O" xsd:string [Term] id: CHEBI:63956 name: isoxaben namespace: chebi_ontology def: "A benzamide obtained by formal condensation of the carboxy group of 2,6-dimethoxybenzoic acid and the amino group of 3-(3-methylpentan-3-yl)-1,2-oxazol-5-amine." [] subset: 3_STAR synonym: "2,6-Dimethoxy-N-(3-(1-ethyl-1-methylpropyl)-5-isoxazolyl)benzamide" RELATED [ChemIDplus] synonym: "2,6-dimethoxy-N-[3-(3-methylpentan-3-yl)-1,2-oxazol-5-yl]benzamide" EXACT IUPAC_NAME [IUPAC] synonym: "N-(3-(1-Ethyl-1-methylpropyl)-5-isoxazolyl)-2,6-dimethoxybenzamide" RELATED [ChemIDplus] xref: AGR:IND44386841 {source="Europe PMC"} xref: CAS:82558-50-7 {source="ChemIDplus"} xref: CAS:82558-50-7 {source="NIST Chemistry WebBook"} xref: CAS:82558-50-7 {source="KEGG COMPOUND"} xref: ChemIDplus:82558-50-7 xref: CiteXplore:18413279 xref: CiteXplore:18485800 xref: CiteXplore:19103453 xref: CiteXplore:19198845 xref: CiteXplore:19269997 xref: CiteXplore:21421394 xref: CiteXplore:IND44386841 xref: KEGG COMPOUND:82558-50-7 xref: KEGG COMPOUND:C18504 xref: KEGG:C18504 xref: MeSH:C057467 xref: NIST Chemistry WebBook:82558-50-7 xref: PMID:18413279 {source="Europe PMC"} xref: PMID:18485800 {source="Europe PMC"} xref: PMID:19103453 {source="Europe PMC"} xref: PMID:19198845 {source="Europe PMC"} xref: PMID:19269997 {source="Europe PMC"} xref: PMID:21421394 {source="Europe PMC"} xref: PPDB:411 xref: Reaxys:6612136 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:33286 ! agrochemical property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H24N2O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H24N2O4/c1-6-18(3,7-2)14-11-15(24-20-14)19-17(21)16-12(22-4)9-8-10-13(16)23-5/h8-11H,6-7H2,1-5H3,(H,19,21)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PMHURSZHKKJGBM-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "332.39420" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "332.17361" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCC(C)(CC)c1cc(NC(=O)c2c(OC)cccc2OC)on1" xsd:string [Term] id: CHEBI:63959 name: celastrol namespace: chebi_ontology def: "A pentacyclic triterpenoid that is 24,25,26-trinoroleana-1(10),3,5,7-tetraen-29-oic acid bearing an oxo substituent at position 2, a hydroxy substituent at position 3 and two methyl groups at positions 9 and 13. An antioxidant and anti-inflammatory agent. Potently inhibits lipid peroxidation in mitochondria and inhibits TNF-alpha-induced NFkappaB activation. Also shown to inhibit topoisomerase II activity in vitro (IC50 = 7.41 muM)." [] subset: 3_STAR synonym: "(2R,4aS,6aS,12bR,14aS,14bR)-1,2,3,4,4a,5,6,6a,11,12b,13,14,14a,14b-tetradecahydro-10-hydroxy-2,4a,6a,9,12b,14a-hexamethyl-11-oxo-2-picenecarboxylic acid" RELATED [ChEBI] synonym: "(2R,4aS,6aS,12bR,14aS,14bR)-10-hydroxy-2,4a,6a,9,12b,14a-hexamethyl-11-oxo-1,2,3,4,4a,5,6,6a,11,12b,13,14,14a,14b-tetradecahydropicene-2-carboxylic acid" EXACT IUPAC_NAME [IUPAC] synonym: "3-hydroxy-9beta,13alpha-dimethyl-2-oxo-24,25,26-trinoroleana-1(10),3,5,7-tetraen-29-oic acid" RELATED [ChEBI] synonym: "D:A-Friedo-24-noroleana-1(10),3,5,7-tetraen-29-oic acid, 3-hydroxy-2-oxo-, (20alpha)-" RELATED [ChemIDplus] synonym: "Tripterine" RELATED [ChemIDplus] xref: CAS:34157-83-0 {source="ChemIDplus"} xref: ChEMBL:186102 xref: ChemIDplus:34157-83-0 xref: CiteXplore:20934245 xref: CiteXplore:20954803 xref: CiteXplore:21134410 xref: CiteXplore:21414301 xref: CiteXplore:21425580 xref: CiteXplore:21466843 xref: CiteXplore:21569548 xref: CiteXplore:21666907 xref: CiteXplore:21850367 xref: CiteXplore:21865725 xref: CiteXplore:21866552 xref: CiteXplore:22087583 xref: CiteXplore:22206928 xref: CiteXplore:22334592 xref: HMDB:HMDB0002385 xref: MeSH:C050414 xref: Patent:KR20100097843 xref: Patent:US2011263693 xref: PMID:11809076 {source="Europe PMC"} xref: PMID:15593077 {source="Europe PMC"} xref: PMID:20934245 {source="Europe PMC"} xref: PMID:20954803 {source="Europe PMC"} xref: PMID:21134410 {source="Europe PMC"} xref: PMID:21414301 {source="Europe PMC"} xref: PMID:21425580 {source="Europe PMC"} xref: PMID:21466843 {source="Europe PMC"} xref: PMID:21569548 {source="Europe PMC"} xref: PMID:21666907 {source="Europe PMC"} xref: PMID:21850367 {source="Europe PMC"} xref: PMID:21865725 {source="Europe PMC"} xref: PMID:21866552 {source="Europe PMC"} xref: PMID:22087583 {source="Europe PMC"} xref: PMID:22206928 {source="Europe PMC"} xref: PMID:22334592 {source="Europe PMC"} xref: Reaxys:2194425 {source="Reaxys"} is_a: CHEBI:24913 ! isoprenoid relationship: has_role CHEBI:35472 ! anti-inflammatory drug relationship: has_role CHEBI:35610 ! antineoplastic agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C29H38O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C29H38O4/c1-17-18-7-8-21-27(4,19(18)15-20(30)23(17)31)12-14-29(6)22-16-26(3,24(32)33)10-9-25(22,2)11-13-28(21,29)5/h7-8,15,22,31H,9-14,16H2,1-6H3,(H,32,33)/t22-,25-,26-,27+,28-,29+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KQJSQWZMSAGSHN-JJWQIEBTSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "450.60960" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "450.27701" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12C[C@@](C)(CC[C@]1(C)CC[C@]1(C)C3=CC=C4C(C)=C(O)C(=O)C=C4[C@]3(C)CC[C@@]21C)C(O)=O" xsd:string [Term] id: CHEBI:63964 name: N(6)-acetimidoyl-L-lysine dihydrochloride namespace: chebi_ontology def: "A hydrochloride salt prepared from N(6)-acetimidoyl-L-lysine and two equivalents of hydrogen chloride. A selective inhibitor of inducible nitric oxide synthase." [] subset: 3_STAR synonym: "(1-{[(5S)-5-ammonio-5-carboxypentyl]amino}ethylidene)ammonium dichloride" RELATED [IUPAC] synonym: "L-N(6)-(1-iminoethyl)lysine dihydrochloride" RELATED [ChEBI] synonym: "N(6)-acetimidoyl-L-lysine hydrochloride" RELATED [ChEBI] synonym: "N(6)-acetimidoyllysine dihydrochloride" RELATED [ChEBI] synonym: "N(6)-ethanimidoyl-L-lysine dihydrochloride" EXACT IUPAC_NAME [IUPAC] xref: ChEMBL:1222605 xref: Reaxys:7083584 {source="Reaxys"} is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H19Cl2N3O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H17N3O2.2ClH/c1-6(9)11-5-3-2-4-7(10)8(12)13;;/h7H,2-5,10H2,1H3,(H2,9,11)(H,12,13);2*1H/t7-;;/m0../s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OQIBCXRAFAHXMM-KLXURFKVSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "260.16100" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "259.08543" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cl.Cl.CC(=N)NCCCC[C@H](N)C(O)=O" xsd:string [Term] id: CHEBI:63965 name: 7-chlorokynurenic acid namespace: chebi_ontology def: "A quinolinemonocarboxylic acid that is quinaldic acid which is substituted by a hydroxy group at position 4 and by a chlorine at position 7. It is a potent NMDA glutamate receptor antagonist which antagonizes the strychnine-insensitive glycine site of the NMDA receptor. It also prevents neurodegeneration produced by quinolinic acid." [] subset: 3_STAR synonym: "7-chloro-4-hydroxy-2-carboxyquinoline" RELATED [ChEBI] synonym: "7-chloro-4-hydroxyquinoline-2-carboxylic acid" EXACT IUPAC_NAME [IUPAC] synonym: "7-CKA" RELATED [ChEBI] synonym: "7-Cl-KYNA" RELATED [ChEBI] xref: CAS:18000-24-3 {source="ChemIDplus"} xref: ChEMBL:216326 xref: ChemIDplus:18000-24-3 xref: CiteXplore:11224142 xref: LINCS:LSM-24944 xref: MeSH:C057013 xref: PMID:11224142 {source="Europe PMC"} xref: Reaxys:185645 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound is_a: EFO:0004416 ! acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H6ClNO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H6ClNO3/c11-5-1-2-6-7(3-5)12-8(10(14)15)4-9(6)13/h1-4H,(H,12,13)(H,14,15)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UAWVRVFHMOSAPU-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "223.61300" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "223.00362" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)c1cc(O)c2ccc(Cl)cc2n1" xsd:string [Term] id: CHEBI:63978 name: N-allyl-1-phenyl-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol hydrobromide namespace: chebi_ontology def: "A hydrobromide salt prepared from N-allyl-1-phenyl-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol and one equivalent of hydrogen bromide. Selective dopamine D1-like receptor partial agonist (IC50 values are 19.7 and 2425 nM for binding to D1-like and D2-like receptors respectively). Centrally active following systemic administration in vivo." [] subset: 3_STAR synonym: "1-phenyl-3-(prop-2-en-1-yl)-2,3,4,5-tetrahydro-1H-3-benzazepine-7,8-diol hydrobromide" EXACT IUPAC_NAME [IUPAC] synonym: "3-allyl-1-phenyl-2,3,4,5-tetrahydro-1H-3-benzazepine-7,8-diol hydrobromide" RELATED [IUPAC] synonym: "3-allyl-7,8-dihydroxy-1-phenyl-2,3,4,5-tetrahydro-1H-3-benzazepinium bromide" RELATED [IUPAC] synonym: "N-allyl-7,8-dihydroxy-1-phenyl-2,3,4,5-tetrahydro-1H-3-benzazepine hydrobromide" RELATED [ChEBI] synonym: "SKF 77434 hydrobromide" RELATED [ChEBI] xref: ChEMBL:805878 xref: Reaxys:8658505 {source="Reaxys"} is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H22BrNO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H21NO2.BrH/c1-2-9-20-10-8-15-11-18(21)19(22)12-16(15)17(13-20)14-6-4-3-5-7-14;/h2-7,11-12,17,21-22H,1,8-10,13H2;1H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JWQRAXTWDYUBFI-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "376.28700" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "375.08339" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Br.Oc1cc2CCN(CC=C)CC(c3ccccc3)c2cc1O" xsd:string [Term] id: CHEBI:63996 name: N-methyl-6-chloro-1-(3-methylphenyl)-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol hydrobromide namespace: chebi_ontology def: "A hydrobromide salt prepared from N-methyl-6-chloro-1-(3-methylphenyl)-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol and one equivalent of hydrogen bromide. Dopamine D1-like receptor partial agonist (Ki values are 1.18, 7.56, 920 and 399 nM for rat D1, D5, D2 and D3 receptors respectively). May act as an antagonist in vivo, producing anti-Parkinsonian effects and antagonising the behavioral effects of cocaine." [] subset: 3_STAR synonym: "6-chloro-3-methyl-1-(3-methylphenyl)-2,3,4,5-tetrahydro-1H-3-benzazepine-7,8-diol hydrobromide" EXACT IUPAC_NAME [IUPAC] synonym: "6-chloro-7,8-dihydroxy-3-methyl-1-(3-methylphenyl)-2,3,4,5-tetrahydro-1H-3-benzazepine hydrobromide" RELATED [ChEBI] synonym: "6-chloro-7,8-dihydroxy-3-methyl-1-(3-methylphenyl)-2,3,4,5-tetrahydro-1H-3-benzazepinium bromide" RELATED [IUPAC] synonym: "SKF 83959 hydrobromide" RELATED [ChEBI] xref: ChEMBL:614511 xref: Reaxys:5196089 {source="Reaxys"} is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H21BrClNO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H20ClNO2.BrH/c1-11-4-3-5-12(8-11)15-10-20(2)7-6-13-14(15)9-16(21)18(22)17(13)19;/h3-5,8-9,15,21-22H,6-7,10H2,1-2H3;1H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FHYWNBUFNGHNCP-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "398.72200" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "397.04442" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Br.CN1CCc2c(cc(O)c(O)c2Cl)C(C1)c1cccc(C)c1" xsd:string [Term] id: CHEBI:64002 name: N-allyl-6-chloro-1-(3-methylphenyl)-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol hydrobromide namespace: chebi_ontology def: "A hydrobromide salt prepared from N-allyl-6-chloro-1-(3-methylphenyl)-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol and one equivalent of hydrogen bromide. High affinity, selective dopamine D1-like receptor agonist. Ki values are 3.2, 3.1, 186, 66, 335, 1167, 1251 and 1385 nM at recombinant D1, D5, D2, D3, D4, 5-HT2A, alpha1A and alpha1B receptors respectively. Stimulates adenylyl cyclase (EC50 = 65 nM) but not phosphoinositide hydrolysis. Induces extreme arousal and hyperlocomotion following subcutaneous administration in monkeys." [] subset: 3_STAR synonym: "3-allyl-6-chloro-1-(3-methylphenyl)-2,3,4,5-tetrahydro-1H-3-benzazepine-7,8-diol hydrobromide" RELATED [IUPAC] synonym: "3-allyl-6-chloro-7,8-dihydroxy-1-(3-methylphenyl)-2,3,4,5-tetrahydro-1H-3-benzazepinium bromide" RELATED [IUPAC] synonym: "6-chloro-1-(3-methylphenyl)-3-(prop-2-en-1-yl)-2,3,4,5-tetrahydro-1H-3-benzazepine-7,8-diol hydrobromide" EXACT IUPAC_NAME [IUPAC] synonym: "6-chloro-7,8-dihydroxy-1-(3-methylphenyl)-3-(prop-2-en-1-yl)-2,3,4,5-tetrahydro-1H-3-benzazepinium bromide" RELATED [IUPAC] synonym: "SKF 83822 hydrobromide" RELATED [ChEBI] xref: ChEMBL:646764 xref: Reaxys:5198936 {source="Reaxys"} is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H23BrClNO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H22ClNO2.BrH/c1-3-8-22-9-7-15-16(11-18(23)20(24)19(15)21)17(12-22)14-6-4-5-13(2)10-14;/h3-6,10-11,17,23-24H,1,7-9,12H2,2H3;1H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CFWPKYBBXBANLU-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "424.75900" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "423.06007" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Br.Cc1cccc(c1)C1CN(CCc2c1cc(O)c(O)c2Cl)CC=C" xsd:string [Term] id: CHEBI:64022 name: nebivolol namespace: chebi_ontology def: "A racemate consisting of equal amounts of (R,S,S,S)-nebivolol and (S,R,R,R)-nebivolol. A cardioselective beta blocker, it has vasodilatory activity but lacks intrinsic sympathomimetic and membrane-stabilising activity. It is used as the hydrochloride salt for the management of hypertension, and as an adjunct to standard therapy in elderly patients with stable chronic heart failure." [] subset: 3_STAR synonym: "(1RS,1'RS)-1,1'-[(2RS,2'SR)-bis(6-fluorochroman-2-yl)]-2,2'-iminodiethanol" RELATED [ChEBI] synonym: "(1RS,1'RS)-2,2'-iminobis{1-[(2RS,2'SR)-6-fluoro-3,4-dihydro-2H-chromen-2-yl]ethanol}" RELATED [ChEBI] synonym: "dl-nebivolol" RELATED [ChemIDplus] synonym: "nebivolol" RELATED INN [ChemIDplus] synonym: "nebivololum" RELATED INN [ChEBI] xref: CAS:118457-14-0 {source="ChemIDplus"} xref: ChemIDplus:118457-14-0 xref: CiteXplore:17661735 xref: CiteXplore:18078016 xref: CiteXplore:18083889 xref: CiteXplore:18221115 xref: CiteXplore:18786089 xref: CiteXplore:19443516 xref: CiteXplore:19815121 xref: CiteXplore:20620250 xref: DrugBank:DB04861 xref: KEGG DRUG:D05127 xref: KEGG:D05127 xref: MeSH:C052753 xref: NCIt:C66221 xref: Patent:US4654362 xref: PMID:17661735 {source="Europe PMC"} xref: PMID:18078016 {source="Europe PMC"} xref: PMID:18083889 {source="Europe PMC"} xref: PMID:18221115 {source="Europe PMC"} xref: PMID:18786089 {source="Europe PMC"} xref: PMID:19443516 {source="Europe PMC"} xref: PMID:19815121 {source="Europe PMC"} xref: PMID:20620250 {source="Europe PMC"} xref: PMID:23314750 {source="Europe PMC"} xref: Reaxys:4789059 {source="Reaxys"} xref: SNOMEDCT:318638009 xref: SNOMEDCT:395808005 xref: Wikipedia:Nebivolol is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:23888 ! drug relationship: has_role CHEBI:35620 ! vasodilator agent [Term] id: CHEBI:64041 name: N-octylhomovanillamide namespace: chebi_ontology def: "A monocarboxylic acid amide that is the N-octyl amide of homovanillic acid." [] subset: 3_STAR synonym: "2-(4-hydroxy-3-methoxyphenyl)-N-octylacetamide" EXACT IUPAC_NAME [IUPAC] synonym: "4-hydroxy-3-methoxy-N-octylbenzeneacetamide" RELATED [ChemIDplus] synonym: "octyl homovanillamide" RELATED [ChEBI] synonym: "octylhomovanillamide" RELATED [ChEBI] synonym: "OHV" RELATED [ChEBI] xref: CAS:58418-73-8 {source="ChemIDplus"} xref: ChEMBL:222606 xref: ChemIDplus:58418-73-8 xref: CiteXplore:8410971 xref: PMID:8410971 {source="Europe PMC"} xref: Reaxys:6371275 {source="Reaxys"} is_a: CHEBI:33853 ! phenols is_a: EFO:0004417 ! amide relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C17H27NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C17H27NO3/c1-3-4-5-6-7-8-11-18-17(20)13-14-9-10-15(19)16(12-14)21-2/h9-10,12,19H,3-8,11,13H2,1-2H3,(H,18,20)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RRCXCIBDXPXSRA-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "293.40120" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "293.19909" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCCNC(=O)Cc1ccc(O)c(OC)c1" xsd:string [Term] id: CHEBI:64042 name: 3-aminobenzamide namespace: chebi_ontology def: "A substituted aniline that is benzamide in which one of the meta- hydrogens is replaced by an amino group." [] subset: 3_STAR synonym: "3-aminobenzamide" EXACT IUPAC_NAME [IUPAC] synonym: "3-aminobenzoic acid amide" RELATED [ChEBI] synonym: "3-H2NC6H4CONH2" RELATED [ChEBI] synonym: "aniline-3-carboxamide" RELATED [ChEBI] synonym: "m-aminobenzamide" RELATED [ChemIDplus] synonym: "meta-aminobenzamide" RELATED [ChEBI] xref: CAS:3544-24-9 {source="NIST Chemistry WebBook"} xref: CAS:3544-24-9 {source="ChemIDplus"} xref: ChEMBL:228215 xref: ChemIDplus:3544-24-9 xref: CiteXplore:10751620 xref: CiteXplore:16310113 xref: CiteXplore:21113202 xref: CiteXplore:21595892 xref: CiteXplore:22266967 xref: CiteXplore:4070550 xref: LINCS:LSM-4525 xref: MeSH:C025160 xref: NIST Chemistry WebBook:3544-24-9 xref: PMID:10751620 {source="Europe PMC"} xref: PMID:16310113 {source="Europe PMC"} xref: PMID:21113202 {source="Europe PMC"} xref: PMID:21595892 {source="Europe PMC"} xref: PMID:22266967 {source="Europe PMC"} xref: PMID:4070550 {source="Europe PMC"} xref: Reaxys:2802373 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:23924 ! enzyme inhibitor property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H8N2O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H8N2O/c8-6-3-1-2-5(4-6)7(9)10/h1-4H,8H2,(H2,9,10)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GSCPDZHWVNUUFI-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "136.15120" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "136.06366" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NC(=O)c1cccc(N)c1" xsd:string [Term] id: CHEBI:64044 name: isoquinoline-1,5-diol namespace: chebi_ontology def: "An isoquinolinol that is isoquinoline in which the hydrogens at positions 1 and 5 are replaced by hydroxy groups." [] subset: 3_STAR synonym: "1,5-dihydroxyisoquinoline" RELATED [ChemIDplus] synonym: "5-hydroxy-1(2H)-isoquinolinone" RELATED [ChemIDplus] synonym: "isoquinoline-1,5-diol" EXACT IUPAC_NAME [IUPAC] xref: CAS:5154-02-9 {source="ChemIDplus"} xref: CAS:5154-02-9 {source="NIST Chemistry WebBook"} xref: LINCS:LSM-6689 xref: Reaxys:128854 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H7NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H7NO2/c11-8-3-1-2-7-6(8)4-5-10-9(7)12/h1-5,11H,(H,10,12)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LFUJIPVWTMGYDG-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "161.15740" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "161.04768" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Oc1cccc2c(O)nccc12" xsd:string [Term] id: CHEBI:64045 name: amisulpride namespace: chebi_ontology def: "A member of the class of benzamides resulting from the formal condensation of the carboxy group of 4-amino-5-(ethylsulfonyl)-2-methoxybenzoic acid with the primary amino group of 2-(aminomethyl)-1-ethylpyrrolidine. It is a potent, selective dopamine D2 and D3 receptor antagonist. It is an atypical antipsychotic/antischizophrenic agent with limited extrapyrimidal side effects." [] subset: 3_STAR synonym: "4-Amino-N-((1-ethyl-2-pyrrolidinyl)methyl)-5-(ethylsulfonyl)-2-methoxybenzamide" RELATED [ChemIDplus] synonym: "4-Amino-N-((1-ethyl-2-pyrrolidinyl)methyl)-5-(ethylsulfonyl)-o-anisamide" RELATED [ChemIDplus] synonym: "4-amino-N-[(1-ethylpyrrolidin-2-yl)methyl]-5-(ethylsulfonyl)-2-methoxybenzamide" EXACT IUPAC_NAME [IUPAC] synonym: "Aminosultopride" RELATED [DrugBank] synonym: "amisulprida" RELATED INN [ChemIDplus] synonym: "amisulpride" RELATED INN [KEGG_DRUG] synonym: "amisulpridum" RELATED INN [ChemIDplus] xref: CAS:71675-85-9 {source="ChemIDplus"} xref: ChEMBL:489011 xref: CiteXplore:21176108 xref: CiteXplore:21647545 xref: CiteXplore:21663752 xref: CiteXplore:21746752 xref: CiteXplore:21822161 xref: CiteXplore:21845006 xref: CiteXplore:21852060 xref: CiteXplore:21886905 xref: CiteXplore:21888613 xref: CiteXplore:21969105 xref: CiteXplore:22035899 xref: CiteXplore:22059694 xref: CiteXplore:22121864 xref: CiteXplore:22241281 xref: CiteXplore:22250612 xref: Drug_Central:179 {source="DrugCentral"} xref: DrugBank:DB06288 xref: HMDB:HMDB0015633 xref: KEGG DRUG:D07310 xref: KEGG:D07310 xref: LINCS:LSM-1669 xref: NCIt:C83533 xref: Patent:BE872585 xref: Patent:US4401822 xref: PMID:21176108 {source="Europe PMC"} xref: PMID:21647545 {source="Europe PMC"} xref: PMID:21663752 {source="Europe PMC"} xref: PMID:21746752 {source="Europe PMC"} xref: PMID:21822161 {source="Europe PMC"} xref: PMID:21845006 {source="Europe PMC"} xref: PMID:21852060 {source="Europe PMC"} xref: PMID:21886905 {source="Europe PMC"} xref: PMID:21888613 {source="Europe PMC"} xref: PMID:21969105 {source="Europe PMC"} xref: PMID:22035899 {source="Europe PMC"} xref: PMID:22059694 {source="Europe PMC"} xref: PMID:22121864 {source="Europe PMC"} xref: PMID:22241281 {source="Europe PMC"} xref: PMID:22250612 {source="Europe PMC"} xref: Reaxys:6876191 {source="Reaxys"} xref: SNOMEDCT:321636003 xref: SNOMEDCT:391761004 xref: Wikipedia:Amisulpride is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:35476 ! antipsychotic agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C17H27N3O4S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C17H27N3O4S/c1-4-20-8-6-7-12(20)11-19-17(21)13-9-16(25(22,23)5-2)14(18)10-15(13)24-3/h9-10,12H,4-8,11,18H2,1-3H3,(H,19,21)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NTJOBXMMWNYJFB-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "369.47900" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "369.17223" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCN1CCCC1CNC(=O)c1cc(c(N)cc1OC)S(=O)(=O)CC" xsd:string [Term] id: CHEBI:64050 name: N-desmethylclozapine namespace: chebi_ontology def: "A dibenzodoazepine substituted with chloro and piperazino groups which is a major metabolite of clozapine; a potent and selective 5-HT2C serotonin receptor antagonist." [] subset: 3_STAR synonym: "8-Chloro-11-(1-piperazinyl)-5H-dibenzo(b,e)(1,4)diazepine" RELATED [ChemIDplus] synonym: "8-chloro-11-(piperazin-1-yl)-5H-dibenzo[b,e][1,4]diazepine" EXACT IUPAC_NAME [IUPAC] synonym: "Demethylclozapine" RELATED [ChemIDplus] synonym: "Desmethylclozapine" RELATED [ChemIDplus] synonym: "N-desmethyl clozapine" RELATED [ChEBI] synonym: "NDMC" RELATED [ChEBI] synonym: "Norclozapine" RELATED [ChemIDplus] xref: CAS:6104-71-8 {source="ChemIDplus"} xref: ChEMBL:162934 xref: ChemIDplus:6104-71-8 xref: CiteXplore:20156258 xref: CiteXplore:20463634 xref: CiteXplore:21134422 xref: CiteXplore:21658379 xref: CiteXplore:21712711 xref: CiteXplore:21726287 xref: CiteXplore:21835172 xref: CiteXplore:21855612 xref: CiteXplore:21912901 xref: CiteXplore:21917240 xref: MeSH:C058272 xref: MeSH:C411706 xref: PMID:20156258 {source="Europe PMC"} xref: PMID:20463634 {source="Europe PMC"} xref: PMID:21134422 {source="Europe PMC"} xref: PMID:21658379 {source="Europe PMC"} xref: PMID:21712711 {source="Europe PMC"} xref: PMID:21726287 {source="Europe PMC"} xref: PMID:21835172 {source="Europe PMC"} xref: PMID:21855612 {source="Europe PMC"} xref: PMID:21912901 {source="Europe PMC"} xref: PMID:21917240 {source="Europe PMC"} xref: Reaxys:762289 {source="Reaxys"} xref: SNOMEDCT:115561003 xref: Wikipedia:Desmethylclozapine is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:48278 ! serotonergic drug property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C17H17ClN4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C17H17ClN4/c18-12-5-6-15-16(11-12)21-17(22-9-7-19-8-10-22)13-3-1-2-4-14(13)20-15/h1-6,11,19-20H,7-10H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JNNOSTQEZICQQP-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "312.79700" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "312.11417" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Clc1ccc2Nc3ccccc3C(=Nc2c1)N1CCNCC1" xsd:string [Term] id: CHEBI:64053 name: 4-(4-methylpiperazin-1-yl)-7-(trifluoromethyl)pyrrolo[1,2-a]quinoxaline dimaleate namespace: chebi_ontology def: "A maleate salt that is the dimaleate salt of 4-(4-methylpiperazin-1-yl)-7-(trifluoromethyl)pyrrolo[1,2-a]quinoxaline. A 5-hydroxytryptamine receptor 1B (5-HT1B) full agonist, 10-fold selective over 5-HT1A and 1000-fold selective over 5-HT2C receptors. Centrally active following systemic administration." [] subset: 3_STAR synonym: "4-(4-methylpiperazin-1-yl)-7-(trifluoromethyl)pyrrolo[1,2-a]quinoxaline di[(2Z)-but-2-enedioate]" EXACT IUPAC_NAME [IUPAC] synonym: "CGS 12066B" RELATED [ChemIDplus] synonym: "CGS 12066B dimaleate" RELATED [ChEBI] xref: CAS:109028-10-6 {source="ChemIDplus"} xref: ChemIDplus:109028-10-6 xref: MeSH:C052561 is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:48279 ! serotonergic antagonist property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C25H25F3N4O8" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C17H17F3N4.2C4H4O4/c1-22-7-9-23(10-8-22)16-15-3-2-6-24(15)14-5-4-12(17(18,19)20)11-13(14)21-16;2*5-3(6)1-2-4(7)8/h2-6,11H,7-10H2,1H3;2*1-2H,(H,5,6)(H,7,8)/b;2*2-1-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HTEVMLYDEWVIQE-SPIKMXEPSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "566.48320" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "566.16245" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H+].[H+].[H+].[H+].[O-]C(=O)\\C=C/C([O-])=O.[O-]C(=O)\\C=C/C([O-])=O.CN1CCN(CC1)c1nc2cc(ccc2n2cccc12)C(F)(F)F" xsd:string [Term] id: CHEBI:64057 name: 3-[4-(3-chlorophenyl)piperazin-1-yl]-1,1-diphenylpropan-2-ol hydrochloride namespace: chebi_ontology def: "A hydrochloride that is the monohydrochloride salt of 3-[4-(3-chlorophenyl)piperazin-1-yl]-1,1-diphenylpropan-2-ol. A selective h5-HT1D antagonist, displaying 60-fold selectivity over h5-HT1B, and exhibiting little or no affinity for a range of other receptor types." [] subset: 3_STAR synonym: "3-[4-(3-chlorophenyl)piperazin-1-yl]-1,1-diphenylpropan-2-ol hydrochloride" EXACT IUPAC_NAME [IUPAC] synonym: "3-[4-(3-chlorophenyl)piperazin-1-yl]-1,1-diphenylpropan-2-ol monohydrochloride" RELATED [ChEBI] synonym: "4-(3-chlorophenyl)-1-(2-hydroxy-3,3-diphenylpropyl)piperazin-1-ium chloride" EXACT IUPAC_NAME [IUPAC] synonym: "BRL 15572 hydrochloride" RELATED [ChEBI] synonym: "BRL 15572 monohydrochloride" RELATED [ChEBI] xref: ChEMBL:630841 xref: Chemspider:10131725 xref: Reaxys:9024485 {source="Reaxys"} is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C25H28Cl2N2O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C25H27ClN2O.ClH/c26-22-12-7-13-23(18-22)28-16-14-27(15-17-28)19-24(29)25(20-8-3-1-4-9-20)21-10-5-2-6-11-21;/h1-13,18,24-25,29H,14-17,19H2;1H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KQGJIKWDFWLCHO-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "443.40900" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "442.15787" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cl.OC(CN1CCN(CC1)c1cccc(Cl)c1)C(c1ccccc1)c1ccccc1" xsd:string [Term] id: CHEBI:64065 name: CGP 78608 hydrochloride namespace: chebi_ontology def: "A hydrochloride that is the monohydrochloride salt of CGP 78608. Potent and selective NMDA antagonist that acts through the glycine site (IC50 = 5 nM). Displays >500-fold selectivity over kainate and AMPA receptors (IC50 values are 2.7 and 3 muM respectively). Anticonvulsant in vivo following systemic administration." [] subset: 3_STAR synonym: "(1S)-N-[(7-bromo-2,3-dioxo-1,2,3,4-tetrahydroquinoxalin-5-yl)methyl]-1-phosphonoethanaminium chloride" EXACT IUPAC_NAME [IUPAC] synonym: "[(1S)-1-{[(7-bromo-2,3-dioxo-1,2,3,4-tetrahydroquinoxalin-5-yl)methyl]amino}ethyl]phosphonic acid hydrochloride" EXACT IUPAC_NAME [IUPAC] is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C11H14BrClN3O5P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C11H13BrN3O5P.ClH/c1-5(21(18,19)20)13-4-6-2-7(12)3-8-9(6)15-11(17)10(16)14-8;/h2-3,5,13H,4H2,1H3,(H,14,16)(H,15,17)(H2,18,19,20);1H/t5-;/m0./s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "MZQQZBPMRPDKTB-JEDNCBNOSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "414.57700" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "412.95430" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cl.C[C@@H](NCc1cc(Br)cc2[nH]c(=O)c(=O)[nH]c12)P(O)(O)=O" xsd:string [Term] id: CHEBI:64067 name: SB 224289 hydrochloride namespace: chebi_ontology def: "A hydrochloride that is the monohydrochloride salt of SB 224289. Selective 5-HT1B receptor antagonist (pKi = 8.2). Displays >60-fold selectivity over 5-HT1D, 5-HT1A, 5-HT1E, 5-HT1F, 5-HT2A and 5-HT2C receptors in radioligand binding and functional assays. Centrally active following oral administration in vivo." [] subset: 3_STAR synonym: "(1'-methyl-6,7-dihydro-5H-spiro[furo[2,3-f]indole-3,4'-piperidin]-5-yl)[2'-methyl-4'-(5-methyl-1,2,4-oxadiazol-3-yl)biphenyl-4-yl]methanone hydrochloride" EXACT IUPAC_NAME [IUPAC] synonym: "1'-methyl-5-{[2'-methyl-4'-(5-methyl-1,2,4-oxadiazol-3-yl)biphenyl-4-yl]carbonyl}-6,7-dihydro-5H-spiro[furo[2,3-f]indole-3,4'-piperidinium] chloride" EXACT IUPAC_NAME [IUPAC] xref: ChEMBL:805862 xref: CiteXplore:20306273 xref: PMID:20306273 {source="Europe PMC"} xref: Reaxys:8248456 {source="Reaxys"} is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C32H33ClN4O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C32H32N4O3.ClH/c1-20-16-25(30-33-21(2)39-34-30)8-9-26(20)22-4-6-23(7-5-22)31(37)36-13-10-24-17-29-27(18-28(24)36)32(19-38-29)11-14-35(3)15-12-32;/h4-9,16-18H,10-15,19H2,1-3H3;1H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GKGKBZYMDILCOF-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "557.08200" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "556.22412" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cl.CN1CCC2(CC1)COc1cc3CCN(C(=O)c4ccc(cc4)-c4ccc(cc4C)-c4noc(C)n4)c3cc21" xsd:string [Term] id: CHEBI:64073 name: exendin-4 namespace: chebi_ontology def: "A bioactive polypeptide of 39 amino acid residues isolated from the saliva of the Gila monster (Heloderma suspectum). High-affinity glucagon-like peptide 1 (GLP-1) receptor agonist (Kd = 136 pM); potently induces cAMP formation without stimulating amylase release in pancreatic acini; potentiates glucose-induced insulin secretion in isolated rat islets; protects against glutamate-induced neurotoxicity. A synthetic version is called exenatide." [] subset: 3_STAR synonym: "Ex4" RELATED [ChEBI] synonym: "exenatida" RELATED INN [WHO_MedNet] synonym: "exenatide" RELATED INN [ChemIDplus] synonym: "exenatide" RELATED INN [WHO_MedNet] synonym: "exenatidum" RELATED INN [WHO_MedNet] synonym: "Exendin 4" RELATED [ChemIDplus] synonym: "exendin-4" EXACT [ChEBI] synonym: "Heloderma suspectum gila monster exendin-4" RELATED [ChEBI] synonym: "His-Gly-Glu-Gly-Thr-Phe-Thr-Ser-Asp-Leu-Ser-Lys-Gln-Met-Glu-Glu-Glu-Ala-Val-Arg-Leu-Phe-Ile-Glu-Trp-Leu-Lys-Asn-Gly-Gly-Pro-Ser-Ser-Gly-Ala-Pro-Pro-Pro-Ser-NH2" RELATED [ChEBI] synonym: "L-histidylglycyl-L-alpha-glutamylglycyl-L-threonyl-L-phenylalanyl-L-threonyl-L-seryl-L-alpha-aspartyl-L-leucyl-L-seryl-L-lysyl-L-glutaminyl-L-methionyl-L-alpha-glutamyl-L-alpha-glutamyl-L-alpha-glutamyl-L-alanyl-L-valyl-L-arginyl-L-leucyl-L-phenylalanyl-L-isoleucyl-L-alpha-glutamyl-L-tryptophyl-L-leucyl-L-lysyl-L-asparaginylglycylglycyl-L-prolyl-L-seryl-L-serylglycyl-L-alanyl-L-prolyl-L-prolyl-L-prolyl-L-serinamide" EXACT IUPAC_NAME [IUPAC] xref: CAS:141758-74-9 {source="ChemIDplus"} xref: ChemIDplus:141758-74-9 xref: CiteXplore:12364473 xref: CiteXplore:1313797 xref: CiteXplore:14565957 xref: CiteXplore:16353670 xref: CiteXplore:17053883 xref: CiteXplore:20149450 xref: CiteXplore:20404826 xref: CiteXplore:22310470 xref: CiteXplore:22334721 xref: CiteXplore:22338110 xref: CiteXplore:22356440 xref: CiteXplore:22363635 xref: CiteXplore:22384126 xref: KEGG:C15894 xref: KEGG:D04121 xref: MeSH:C074031 xref: NCIt:C65611 xref: Patent:EP1908778 xref: PMID:12364473 {source="Europe PMC"} xref: PMID:1313797 {source="Europe PMC"} xref: PMID:14565957 {source="Europe PMC"} xref: PMID:16353670 {source="Europe PMC"} xref: PMID:17053883 {source="Europe PMC"} xref: PMID:20149450 {source="Europe PMC"} xref: PMID:20404826 {source="Europe PMC"} xref: PMID:22310470 {source="Europe PMC"} xref: PMID:22334721 {source="Europe PMC"} xref: PMID:22338110 {source="Europe PMC"} xref: PMID:22356440 {source="Europe PMC"} xref: PMID:22363635 {source="Europe PMC"} xref: PMID:22384126 {source="Europe PMC"} xref: Reaxys:9040649 {source="Reaxys"} xref: SNOMEDCT:416859008 xref: SNOMEDCT:417734003 xref: Wikipedia:Exenatide is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:35526 ! hypoglycemic agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C184H282N50O60S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C184H282N50O60S/c1-16-94(10)147(178(289)213-114(52-58-144(257)258)163(274)218-121(73-101-77-195-105-39-24-23-38-103(101)105)168(279)215-116(68-90(2)3)165(276)205-107(41-26-28-61-186)158(269)219-122(75-134(189)243)154(265)198-79-135(244)196-83-139(248)231-63-30-43-129(231)175(286)225-127(87-238)174(285)223-125(85-236)155(266)200-80-136(245)202-96(12)181(292)233-65-32-45-131(233)183(294)234-66-33-46-132(234)182(293)232-64-31-44-130(232)176(287)222-124(84-235)150(190)261)229-170(281)119(71-99-34-19-17-20-35-99)217-166(277)117(69-91(4)5)214-159(270)108(42-29-62-194-184(191)192)212-177(288)146(93(8)9)228-151(262)95(11)203-156(267)111(49-55-141(251)252)208-161(272)112(50-56-142(253)254)209-162(273)113(51-57-143(255)256)210-164(275)115(59-67-295-15)211-160(271)110(47-53-133(188)242)207-157(268)106(40-25-27-60-185)206-172(283)126(86-237)224-167(278)118(70-92(6)7)216-169(280)123(76-145(259)260)220-173(284)128(88-239)226-180(291)149(98(14)241)230-171(282)120(72-100-36-21-18-22-37-100)221-179(290)148(97(13)240)227-138(247)82-199-153(264)109(48-54-140(249)250)204-137(246)81-197-152(263)104(187)74-102-78-193-89-201-102/h17-24,34-39,77-78,89-98,104,106-132,146-149,195,235-241H,16,25-33,40-76,79-88,185-187H2,1-15H3,(H2,188,242)(H2,189,243)(H2,190,261)(H,193,201)(H,196,244)(H,197,263)(H,198,265)(H,199,264)(H,200,266)(H,202,245)(H,203,267)(H,204,246)(H,205,276)(H,206,283)(H,207,268)(H,208,272)(H,209,273)(H,210,275)(H,211,271)(H,212,288)(H,213,289)(H,214,270)(H,215,279)(H,216,280)(H,217,277)(H,218,274)(H,219,269)(H,220,284)(H,221,290)(H,222,287)(H,223,285)(H,224,278)(H,225,286)(H,226,291)(H,227,247)(H,228,262)(H,229,281)(H,230,282)(H,249,250)(H,251,252)(H,253,254)(H,255,256)(H,257,258)(H,259,260)(H4,191,192,194)/t94?,95-,96-,97?,98?,104-,106-,107-,108-,109-,110-,111-,112-,113-,114-,115-,116-,117-,118-,119-,120-,121-,122-,123-,124-,125-,126-,127-,128-,129-,130-,131-,132-,146-,147-,148-,149-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HTQBXNHDCUEHJF-URRANESESA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "4186.57200" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "4184.02731" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCC(C)[C@H](NC(=O)[C@H](Cc1ccccc1)NC(=O)[C@H](CC(C)C)NC(=O)[C@H](CCCNC(N)=N)NC(=O)[C@@H](NC(=O)[C@H](C)NC(=O)[C@H](CCC(O)=O)NC(=O)[C@H](CCC(O)=O)NC(=O)[C@H](CCC(O)=O)NC(=O)[C@H](CCSC)NC(=O)[C@H](CCC(N)=O)NC(=O)[C@H](CCCCN)NC(=O)[C@H](CO)NC(=O)[C@H](CC(C)C)NC(=O)[C@H](CC(O)=O)NC(=O)[C@H](CO)NC(=O)[C@@H](NC(=O)[C@H](Cc1ccccc1)NC(=O)[C@@H](NC(=O)CNC(=O)[C@H](CCC(O)=O)NC(=O)CNC(=O)[C@@H](N)Cc1c[nH]cn1)C(C)O)C(C)O)C(C)C)C(=O)N[C@@H](CCC(O)=O)C(=O)N[C@@H](Cc1c[nH]c2ccccc12)C(=O)N[C@@H](CC(C)C)C(=O)N[C@@H](CCCCN)C(=O)N[C@@H](CC(N)=O)C(=O)NCC(=O)NCC(=O)N1CCC[C@H]1C(=O)N[C@@H](CO)C(=O)N[C@@H](CO)C(=O)NCC(=O)N[C@@H](C)C(=O)N1CCC[C@H]1C(=O)N1CCC[C@H]1C(=O)N1CCC[C@H]1C(=O)N[C@@H](CO)C(N)=O" xsd:string [Term] id: CHEBI:64078 name: (1R,3S)-3-(adamantan-1-yl)-1-(aminomethyl)-3,4-dihydroisochromene-5,6-diol hydrochloride namespace: chebi_ontology def: "A hydrochloride salt obtained by mixing equimolar amounts of (1R,3S)-3-(adamantan-1-yl)-1-(aminomethyl)-3,4-dihydroisochromene-5,6-diol with hydrochloric acid. Potent and selective dopamine D1-like receptor agonist (pEC50 values are 8.97 and < 5 for D1-like and D2-like receptors respectively). Displays anti-Parkinsonian activity following oral administration in vivo." [] subset: 3_STAR synonym: "(1R,3S)-3-(adamantan-1-yl)-1-(aminomethyl)-3,4-dihydro-1H-isochromene-5,6-diol hydrochloride" EXACT IUPAC_NAME [IUPAC] synonym: "3-(1'-Adamantyl)-1-aminomethyl-3,4-dihydro-5,6-dihydroxy-1H-2-benzopyran hydrochloride" RELATED [ChemIDplus] synonym: "[(1R,3S)-3-(adamantan-1-yl)-5,6-dihydroxy-3,4-dihydro-1H-isochromen-1-yl]methanaminium chloride" RELATED [IUPAC] synonym: "A 77636" RELATED [ChemIDplus] synonym: "A 77636 hydrochloride" RELATED [ChEBI] synonym: "A-77636" RELATED [ChemIDplus] synonym: "A77636" RELATED [ChemIDplus] synonym: "A77636 hydrochloride" RELATED [ChEBI] xref: CAS:145307-34-2 {source="ChemIDplus"} xref: ChEMBL:805869 xref: ChemIDplus:145307-34-2 xref: MeSH:C079415 xref: Reaxys:5859104 {source="Reaxys"} is_a: EFO:0004415 ! ionic salt relationship: has_role CHEBI:51065 ! dopamine agonist property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H28ClNO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H27NO3.ClH/c21-10-17-14-1-2-16(22)19(23)15(14)6-18(24-17)20-7-11-3-12(8-20)5-13(4-11)9-20;/h1-2,11-13,17-18,22-23H,3-10,21H2;1H/t11?,12?,13?,17-,18-,20?;/m0./s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BWHPNJVKFAPVOG-QYFJGNGUSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "365.89400" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "365.17577" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cl.NC[C@@H]1O[C@@H](Cc2c(O)c(O)ccc12)C12CC3CC(CC(C3)C1)C2" xsd:string [Term] id: CHEBI:64081 name: RS 39604 hydrochloride namespace: chebi_ontology def: "A hydrochloride salt obtained by mixing equimolar amounts of RS 39604 with hydrochloric acid. A potent and selective 5-HT4 antagonist, with a pKi of 9.1 at 5-HT4 receptors in guinea pig striatal membranes and greater than 1000-fold selectivity over 5-HT1A, 2C, 3 and D1, D2, M1, M2, AT1, B1 and alpha1C receptors. The ketone group gives RS 39604 a relatively long half life; it is also orally active and so suitable for in vivo studies." [] subset: 3_STAR synonym: "1-(4-Amino-5-chloro-2-methoxyphenyl)-3-(1-(2-methylsulphonylamino)ethyl-4-piperidinyl)-1-propanone hydrochloride" RELATED [ChemIDplus] synonym: "N-{2-[4-(3-{4-amino-5-chloro-2-[(3,5-dimethoxybenzyl)oxy]phenyl}-3-oxopropyl)piperidin-1-yl]ethyl}methanesulfonamide hydrochloride" EXACT IUPAC_NAME [IUPAC] synonym: "RS 67506" RELATED [ChemIDplus] synonym: "RS-67506" RELATED [ChemIDplus] synonym: "RS67506" RELATED [ChemIDplus] xref: CAS:168986-61-6 {source="ChemIDplus"} xref: ChEMBL:686857 xref: ChemIDplus:168986-61-6 xref: MeSH:C107556 xref: Reaxys:8889150 {source="Reaxys"} is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C26H37Cl2N3O6S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C26H36ClN3O6S.ClH/c1-34-20-12-19(13-21(14-20)35-2)17-36-26-16-24(28)23(27)15-22(26)25(31)5-4-18-6-9-30(10-7-18)11-8-29-37(3,32)33;/h12-16,18,29H,4-11,17,28H2,1-3H3;1H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QSMYZGMJSGUWPM-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "590.55900" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "589.17801" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cl.COc1cc(COc2cc(N)c(Cl)cc2C(=O)CCC2CCN(CCNS(C)(=O)=O)CC2)cc(OC)c1" xsd:string [Term] id: CHEBI:64086 name: vanoxerine dihydrochloride namespace: chebi_ontology def: "A hydrochloride salt that is obtained by reaction of vanoxerine with two equivalents of hydrogen chloride. Potent, competitive inhibitor of dopamine uptake (Ki = 1 nM for inhibition of striatal dopamine uptake). Has > 100-fold lower affinity for the noradrenalin and 5-HT uptake carriers. Also a potent sigma ligand (IC50 = 48 nM). Centrally active following systemic administration." [] subset: 3_STAR synonym: "1-{2-[bis(4-fluorophenyl)methoxy]ethyl}-4-(3-phenylpropyl)piperazine dihydrochloride" EXACT IUPAC_NAME [IUPAC] synonym: "1-{2-[bis(4-fluorophenyl)methoxy]ethyl}-4-(3-phenylpropyl)piperazinediium dichloride" RELATED [IUPAC] synonym: "GBR 12909 dihydrochloride" RELATED [ChEBI] synonym: "GBR12909 dihydrochloride" RELATED [ChEBI] synonym: "Vanoxerine hydrochloride" RELATED [ChemIDplus] xref: CAS:67469-78-7 {source="ChemIDplus"} xref: ChEMBL:646658 xref: ChemIDplus:67469-78-7 xref: CiteXplore:10640288 xref: CiteXplore:10939577 xref: CiteXplore:16014753 xref: CiteXplore:7700571 xref: CiteXplore:8884229 xref: PMID:10640288 {source="Europe PMC"} xref: PMID:10939577 {source="Europe PMC"} xref: PMID:16014753 {source="Europe PMC"} xref: PMID:7700571 {source="Europe PMC"} xref: PMID:8884229 {source="Europe PMC"} xref: Reaxys:5696321 {source="Reaxys"} is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C28H34Cl2F2N2O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C28H32F2N2O.2ClH/c29-26-12-8-24(9-13-26)28(25-10-14-27(30)15-11-25)33-22-21-32-19-17-31(18-20-32)16-4-7-23-5-2-1-3-6-23;;/h1-3,5-6,8-15,28H,4,7,16-22H2;2*1H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "MIBSKSYCRFWIRU-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "523.48500" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "522.20163" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cl.Cl.Fc1ccc(cc1)C(OCCN1CCN(CCCc2ccccc2)CC1)c1ccc(F)cc1" xsd:string [Term] id: CHEBI:64090 name: tert-butyl hydroperoxide namespace: chebi_ontology def: "An alkyl hydroperoxide in which the alkyl group is tert-butyl. It is widely used in a variety of oxidation processes." [] subset: 3_STAR synonym: "1,1-Dimethylethyl hydroperoxide" RELATED [ChemIDplus] synonym: "2-Hydroperoxy-2-methylpropane" RELATED [ChemIDplus] synonym: "Dimethylethyl hydroperoxide" RELATED [NIST_Chemistry_WebBook] synonym: "Hydroperoxyde de butyle tertiaire" RELATED [NIST_Chemistry_WebBook] synonym: "t-butyl hydroperoxide" RELATED [ChEBI] synonym: "t-Butylhydroperoxide" RELATED [NIST_Chemistry_WebBook] synonym: "TBHP" RELATED [ChEBI] synonym: "tert-butyl hydroperoxide" EXACT IUPAC_NAME [IUPAC] synonym: "tert-butyl hydroperoxide" EXACT [UniProt] synonym: "tert-Butylhydroperoxide" RELATED [ChemIDplus] synonym: "Tertiary-butyl hydroperoxide" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:1098280 {source="ChemIDplus"} xref: CAS:75-91-2 {source="ChemIDplus"} xref: CAS:75-91-2 {source="NIST Chemistry WebBook"} xref: ChEMBL:365419 xref: ChemIDplus:1098280 xref: ChemIDplus:75-91-2 xref: CiteXplore:21418283 xref: CiteXplore:22037478 xref: CiteXplore:22039964 xref: CiteXplore:22326806 xref: CiteXplore:22337620 xref: CiteXplore:22369679 xref: MeSH:D020122 xref: NIST Chemistry WebBook:75-91-2 xref: PMID:21418283 {source="Europe PMC"} xref: PMID:22037478 {source="Europe PMC"} xref: PMID:22039964 {source="Europe PMC"} xref: PMID:22326806 {source="Europe PMC"} xref: PMID:22337620 {source="Europe PMC"} xref: PMID:22369679 {source="Europe PMC"} xref: Reaxys:1098280 {source="Reaxys"} xref: Wikipedia:Tert-Butyl_hydroperoxide is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:36047 ! antibacterial drug property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H10O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H10O2/c1-4(2,3)6-5/h5H,1-3H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CIHOLLKRGTVIJN-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "90.12100" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "90.06808" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)(C)OO" xsd:string [Term] id: CHEBI:64091 name: 1-[2-(benzhydryloxy)ethyl]-4-(3-phenylpropyl)piperazine dihydrochloride namespace: chebi_ontology def: "A hydrochloride salt that is obtained by reaction of 1-[2-(benzhydryloxy)ethyl]-4-(3-phenylpropyl)piperazine with two equivalents of hydrogen chloride. Potent and selective inhibitor of dopamine uptake (KD = 5.5 nM in rat striatal membranes)." [] subset: 3_STAR synonym: "1-[2-(diphenylmethoxy)ethyl]-4-(3-phenylpropyl)piperazine dihydrochloride" EXACT IUPAC_NAME [IUPAC] synonym: "1-[2-(diphenylmethoxy)ethyl]-4-(3-phenylpropyl)piperazinediium dichloride" RELATED [IUPAC] synonym: "GBR 12935 dihydrochloride" RELATED [ChEBI] xref: ChEMBL:854648 xref: CiteXplore:10082215 xref: CiteXplore:11230993 xref: CiteXplore:17141211 xref: CiteXplore:18216287 xref: CiteXplore:9286626 xref: CiteXplore:9874096 xref: Patent:US4202896 xref: PMID:10082215 {source="Europe PMC"} xref: PMID:11230993 {source="Europe PMC"} xref: PMID:17141211 {source="Europe PMC"} xref: PMID:18216287 {source="Europe PMC"} xref: PMID:9286626 {source="Europe PMC"} xref: PMID:9874096 {source="Europe PMC"} xref: Reaxys:5689635 {source="Reaxys"} is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C28H36Cl2N2O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C28H34N2O.2ClH/c1-4-11-25(12-5-1)13-10-18-29-19-21-30(22-20-29)23-24-31-28(26-14-6-2-7-15-26)27-16-8-3-9-17-27;;/h1-9,11-12,14-17,28H,10,13,18-24H2;2*1H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NQWRSILGEXNJIT-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "487.50400" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "486.22047" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cl.Cl.C(CN1CCN(CCOC(c2ccccc2)c2ccccc2)CC1)Cc1ccccc1" xsd:string [Term] id: CHEBI:64098 name: N-(2,3-dihydro-1,4-benzodioxin-2-ylmethyl)-2-(2,6-dimethoxyphenoxy)ethanamine namespace: chebi_ontology def: "A benzodioxine that is 2,3-dihydro-1,4-benzodioxine bearing a [(2',6'-dimethoxyphenoxy)ethylamino]methyl group at position 2. An alpha1A-adrenergic selective antagonist." [] subset: 3_STAR synonym: "(2-(2',6'-Dimethoxy)phenoxyethylamino)methylbenzo-1,4-dioxane" RELATED [ChemIDplus] synonym: "(2-(2',6'-Dimethoxy)phenoxyethylamino)methylbenzodioxan" RELATED [ChemIDplus] synonym: "N-(2,3-dihydro-1,4-benzodioxin-2-ylmethyl)-2-(2,6-dimethoxyphenoxy)ethanamine" EXACT IUPAC_NAME [IUPAC] synonym: "N-(2-(2,6-Dimethoxyphenoxy)ethyl)-2,3-dihydro-1,4-benzodioxin-2-methanamine" RELATED [ChemIDplus] synonym: "WB 4101" RELATED [ChemIDplus] synonym: "WB-4101" RELATED [ChemIDplus] synonym: "WB4101" RELATED [ChemIDplus] xref: ChEMBL:133675 xref: CiteXplore:18850495 xref: CiteXplore:19041301 xref: CiteXplore:19114413 xref: CiteXplore:19463264 xref: CiteXplore:19686710 xref: CiteXplore:20450248 xref: CiteXplore:20554480 xref: CiteXplore:20862454 xref: CiteXplore:21146475 xref: CiteXplore:21219971 xref: CiteXplore:21475142 xref: CiteXplore:21535246 xref: CiteXplore:22179423 xref: CiteXplore:7901775 xref: LINCS:LSM-15338 xref: MeSH:C010654 xref: PMID:18850495 {source="Europe PMC"} xref: PMID:19041301 {source="Europe PMC"} xref: PMID:19114413 {source="Europe PMC"} xref: PMID:19463264 {source="Europe PMC"} xref: PMID:19686710 {source="Europe PMC"} xref: PMID:20450248 {source="Europe PMC"} xref: PMID:20554480 {source="Europe PMC"} xref: PMID:20862454 {source="Europe PMC"} xref: PMID:21146475 {source="Europe PMC"} xref: PMID:21219971 {source="Europe PMC"} xref: PMID:21475142 {source="Europe PMC"} xref: PMID:21535246 {source="Europe PMC"} xref: PMID:22179423 {source="Europe PMC"} xref: PMID:7901775 {source="Europe PMC"} xref: Reaxys:4206776 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H23NO5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H23NO5/c1-21-17-8-5-9-18(22-2)19(17)23-11-10-20-12-14-13-24-15-6-3-4-7-16(15)25-14/h3-9,14,20H,10-13H2,1-2H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GYSZUJHYXCZAKI-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "345.38960" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "345.15762" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "COc1cccc(OC)c1OCCNCC1COc2ccccc2O1" xsd:string [Term] id: CHEBI:64099 name: 4-fluoro-N-\{2-[4-(7-methoxynaphthalen-1-yl)piperazin-1-yl]ethyl}benzamide hydrochloride namespace: chebi_ontology def: "A hydrochloride salt that is obtained by reaction of 4-fluoro-N-{2-[4-(7-methoxynaphthalen-1-yl)piperazin-1-yl]ethyl}benzamide with one equivalent of hydrogen chloride. Highly potent selective 5-HT1A receptor full agonist (pKi values are 9.0, 6.6, 7.5, 6.6 and < 6.0 for 5-HT1A, 5-HT1B, 5-HT1C, 5-HT2 and 5-HT3 receptors respectively). Possibly binds between the agonist binding site and the G protein interaction switch site, affecting the activation mechanism, and may display positive cooperativity. Anxiolytic following central administration in vivo." [] subset: 3_STAR synonym: "1-((4-Fluorobenzoylamino)ethyl)-4-(7-methoxy-1-naphthyl)piperazine hydrochloride" RELATED [ChemIDplus] synonym: "4-fluoro-N-{2-[4-(7-methoxynaphthalen-1-yl)piperazin-1-yl]ethyl}benzamide hydrochloride" EXACT IUPAC_NAME [IUPAC] synonym: "S 14506" RELATED [ChemIDplus] synonym: "S 14506 hydrochloride" RELATED [ChEBI] synonym: "S 14506 monohydrochloride" RELATED [ChEBI] synonym: "S-14506" RELATED [ChemIDplus] synonym: "S14506 hydrochloride" RELATED [ChEBI] synonym: "S14506 monohydrochloride" RELATED [ChEBI] xref: CAS:135721-98-1 {source="ChemIDplus"} xref: ChemIDplus:135721-98-1 xref: CiteXplore:7698199 xref: MeSH:C092824 xref: PMID:7698199 {source="Europe PMC"} xref: Reaxys:8374093 {source="Reaxys"} is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C24H27ClFN3O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C24H26FN3O2.ClH/c1-30-21-10-7-18-3-2-4-23(22(18)17-21)28-15-13-27(14-16-28)12-11-26-24(29)19-5-8-20(25)9-6-19;/h2-10,17H,11-16H2,1H3,(H,26,29);1H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HWLZKPKZVOLFGK-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "443.94100" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "443.17758" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cl.COc1ccc2cccc(N3CCN(CCNC(=O)c4ccc(F)cc4)CC3)c2c1" xsd:string [Term] id: CHEBI:64103 name: sodium butyrate namespace: chebi_ontology def: "An organic sodium salt resulting from the replacement of the proton from the carboxy group of butyric acid by a sodium ion." [] subset: 3_STAR synonym: "Butanoic acid, sodium salt" RELATED [ChemIDplus] synonym: "Butanoic acid, sodium salt (1:1)" RELATED [ChemIDplus] synonym: "Butyrate sodium" RELATED [ChemIDplus] synonym: "Butyric acid sodium salt" RELATED [ChemIDplus] synonym: "Butyric acid, sodium salt" RELATED [ChemIDplus] synonym: "sodium butanoate" EXACT IUPAC_NAME [IUPAC] synonym: "Sodium n-butyrate" RELATED [ChemIDplus] synonym: "Sodium propanecarboxylate" RELATED [ChemIDplus] xref: CAS:156-54-7 {source="NIST Chemistry WebBook"} xref: CAS:156-54-7 {source="ChemIDplus"} xref: ChEMBL:200479 xref: ChemIDplus:156-54-7 xref: CiteXplore:12840228 xref: CiteXplore:21593570 xref: CiteXplore:21699495 xref: CiteXplore:21947091 xref: CiteXplore:21984169 xref: CiteXplore:22024383 xref: CiteXplore:22067609 xref: CiteXplore:22160140 xref: CiteXplore:22228088 xref: CiteXplore:22246241 xref: CiteXplore:22253909 xref: CiteXplore:22273669 xref: CiteXplore:22288569 xref: CiteXplore:22293191 xref: CiteXplore:22338096 xref: CiteXplore:22353286 xref: CiteXplore:22381755 xref: DrugBank:DBSALT002877 xref: KEGG:D08998 xref: NCIt:C2337 xref: NIST Chemistry WebBook:156-54-7 xref: PMID:12840228 {source="Europe PMC"} xref: PMID:21593570 {source="Europe PMC"} xref: PMID:21699495 {source="Europe PMC"} xref: PMID:21947091 {source="Europe PMC"} xref: PMID:21984169 {source="Europe PMC"} xref: PMID:22024383 {source="Europe PMC"} xref: PMID:22067609 {source="Europe PMC"} xref: PMID:22160140 {source="Europe PMC"} xref: PMID:22228088 {source="Europe PMC"} xref: PMID:22246241 {source="Europe PMC"} xref: PMID:22253909 {source="Europe PMC"} xref: PMID:22273669 {source="Europe PMC"} xref: PMID:22288569 {source="Europe PMC"} xref: PMID:22293191 {source="Europe PMC"} xref: PMID:22338096 {source="Europe PMC"} xref: PMID:22353286 {source="Europe PMC"} xref: PMID:22381755 {source="Europe PMC"} xref: PMID:24003736 {source="Europe PMC"} xref: Reaxys:3629439 {source="Reaxys"} xref: Wikipedia:Sodium_butyrate is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H7NaO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H8O2.Na/c1-2-3-4(5)6;/h2-3H2,1H3,(H,5,6);/q;+1/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "MFBOGIVSZKQAPD-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "110.08690" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "110.03437" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Na+].CCCC([O-])=O" xsd:string [Term] id: CHEBI:64104 name: sodium 8-bromo-3',5'-cyclic GMP namespace: chebi_ontology def: "An organic sodium salt having 8-bromoguanosine 3',5'-cyclic phosphate as the counterion. A membrane permeable cGMP analogue that activates protein kinase G (PKG). It is 4.3-fold more potent than cGMP in activating PKG1alpha and promotes relaxation of tracheal and vascular smooth muscle tissue in vitro." [] subset: 3_STAR synonym: "8-bromo cGMP sodium salt" RELATED [ChEBI] synonym: "8-bromoguanosine 3',5'-cyclic phosphate sodium" RELATED [ChEBI] synonym: "8-bromoguanosine 3',5'-cyclic phosphate sodium salt" RELATED [ChEBI] synonym: "sodium 8-bromoguanosine 3',5'-cyclic phosphate" RELATED [ChEBI] synonym: "sodium 8-bromoguanosine 3',5'-phosphate" EXACT IUPAC_NAME [IUPAC] xref: Reaxys:8378760 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H10BrN5NaO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H11BrN5O7P.Na/c11-9-13-3-6(14-10(12)15-7(3)18)16(9)8-4(17)5-2(22-8)1-21-24(19,20)23-5;/h2,4-5,8,17H,1H2,(H,19,20)(H3,12,14,15,18);/q;+1/p-1/t2-,4-,5-,8-;/m1./s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ZJRFCXHKYQVNFK-YEOHUATISA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "446.08300" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "444.93989" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Na+].Nc1nc2n([C@@H]3O[C@@H]4COP([O-])(=O)O[C@H]4[C@H]3O)c(Br)nc2c(=O)[nH]1" xsd:string [Term] id: CHEBI:64110 name: 4,4',4''-(4-propylpyrazole-1,3,5-triyl)trisphenol namespace: chebi_ontology def: "A pyrazole that is 1H-pyrazole bearing three 4-hydroxyphenyl substituents at positions 1, 3 and 5 as well as a propyl substituent at position 4. Potent, subtype-selective estrogen receptor agonist (EC50 ~ 200 pM); displays 410-fold selectivity for ERalpha over ERbeta. Prevents ovariectomy-induced weight gain and loss of bone mineral density, and induces gene expression in the hypothalamus following systemic administration in vivo." [] subset: 3_STAR synonym: "1,3,5-tris(4-hydroxyphenyl)-4-propylpyrazole" RELATED [ChEBI] synonym: "4,4',4''-(4-propyl-1H-pyrazole-1,3,5-triyl)triphenol" EXACT IUPAC_NAME [IUPAC] xref: Reaxys:8798122 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:33853 ! phenols property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C24H22N2O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C24H22N2O3/c1-2-3-22-23(16-4-10-19(27)11-5-16)25-26(18-8-14-21(29)15-9-18)24(22)17-6-12-20(28)13-7-17/h4-15,27-29H,2-3H2,1H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IOTXSIGGFRQYKW-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "386.44310" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "386.16304" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCc1c(nn(-c2ccc(O)cc2)c1-c1ccc(O)cc1)-c1ccc(O)cc1" xsd:string [Term] id: CHEBI:64111 name: GR 127935 hydrochloride namespace: chebi_ontology def: "A hydrochloride obtained by reaction of GR 127935 with one equivalent of hydrochloric acid. Potent and selective 5-HT1B/1D receptor antagonist (pKi values are 8.5 for both guinea pig 5-HT1D and rat 5-HT1B receptors). Displays > 100-fold selectivity over 5HT1A, 5-HT2A, 5-HT2C receptors and other receptor types. Centrally active following oral administration." [] subset: 3_STAR synonym: "4-[2-methoxy-5-({[2'-methyl-4'-(5-methyl-1,2,4-oxadiazol-3-yl)biphenyl-4-yl]carbonyl}amino)phenyl]-1-methylpiperazin-1-ium chloride" RELATED [IUPAC] synonym: "GR127935 hydrochloride" RELATED [ChEBI] synonym: "N-[4-methoxy-3-(4-methylpiperazin-1-yl)phenyl]-2'-methyl-4'-(5-methyl-1,2,4-oxadiazol-3-yl)biphenyl-4-carboxamide hydrochloride" EXACT IUPAC_NAME [IUPAC] xref: ChEMBL:805646 xref: Reaxys:8530522 {source="Reaxys"} is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C29H32ClN5O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C29H31N5O3.ClH/c1-19-17-23(28-30-20(2)37-32-28)9-11-25(19)21-5-7-22(8-6-21)29(35)31-24-10-12-27(36-4)26(18-24)34-15-13-33(3)14-16-34;/h5-12,17-18H,13-16H2,1-4H3,(H,31,35);1H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SRVVUYIJVBLEJI-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "534.04900" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "533.21937" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cl.COc1ccc(NC(=O)c2ccc(cc2)-c2ccc(cc2C)-c2noc(C)n2)cc1N1CCN(C)CC1" xsd:string [Term] id: CHEBI:64115 name: (1S,2R)-5-methoxy-1-methyl-2-(propylamino)tetralin hydrochloride namespace: chebi_ontology def: "A hydrochloride obtained by reaction of (1S,2R)-5-methoxy-1-methyl-2-(propylamino)tetralin with one equivalent of hydrochloric acid. Dopamine receptor antagonist with preferential action at presynaptic receptors (pKi values are 6.95, 6.67, 6.37, 6.21 and 6.07 at hD3. hD4, hD2S, hD2L and rD2 receptors respectively)." [] subset: 3_STAR synonym: "(+)-AJ 76 hydrochloride" RELATED [ChEBI] synonym: "(1S,2R)-5-methoxy-1-methyl-N-propyl-1,2,3,4-tetrahydronaphthalen-2-amine hydrochloride" EXACT IUPAC_NAME [IUPAC] synonym: "(1S,2R)-5-methoxy-1-methyl-N-propyl-1,2,3,4-tetrahydronaphthalen-2-aminium chloride" RELATED [IUPAC] synonym: "cis-(+)-5-methoxy-1-methyl-2-(propylamino)tetralin hydrochloride" RELATED [ChEBI] xref: Reaxys:6076657 {source="Reaxys"} is_a: EFO:0004415 ! ionic salt relationship: has_role CHEBI:48561 ! dopaminergic antagonist property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C15H24ClNO" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C15H23NO.ClH/c1-4-10-16-14-9-8-13-12(11(14)2)6-5-7-15(13)17-3;/h5-7,11,14,16H,4,8-10H2,1-3H3;1H/t11-,14+;/m0./s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KIRYNZFMOLYYQB-YECZQDJWSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "269.81000" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "269.15464" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cl.CCCN[C@@H]1CCc2c(OC)cccc2[C@@H]1C" xsd:string [Term] id: CHEBI:64119 name: (S)-(-)-sulpiride namespace: chebi_ontology def: "An optically active form of sulpiride having (S)-configuration. The active enantiomer of the racemic drug sulpiride. Selective D2-like dopamine antagonist (Ki values are ~ 0.015. ~ 0.013, 1, ~ 45 and ~ 77 muM at D2, D3, D4, D1 and D5 receptors respectively)." [] subset: 3_STAR synonym: "(-)-N-(((S)-1-Ethyl-2-pyrrolidinyl)methyl)-5-sulfamoyl-o-anisamide" RELATED [ChemIDplus] synonym: "(-)-sulpiride" RELATED [ChEBI] synonym: "(S)-(-)-5-aminosulfonyl-N-[(1-ethyl-2-pyrrolidinyl)methyl]-2-methoxybenzamide" RELATED [ChEBI] synonym: "(S)-(-)-N-((1-Ethyl-2-pyrrolidinyl)methyl)-5-sulfamoyl-o-anisamide" RELATED [ChemIDplus] synonym: "(S)-sulpiride" RELATED [ChEBI] synonym: "levosulpirida" RELATED INN [DrugBank] synonym: "levosulpiride" RELATED INN [KEGG_DRUG] synonym: "levosulpiridum" RELATED INN [DrugBank] synonym: "N-{[(2S)-1-ethylpyrrolidin-2-yl]methyl}-2-methoxy-5-sulfamoylbenzamide" EXACT IUPAC_NAME [IUPAC] synonym: "S-(-)-N-(1-Ethyl-2-pyrrolidinomethyl)-2-methoxy-5-sulfamoylebenzamide" RELATED [ChemIDplus] xref: CAS:23672-07-3 {source="ChemIDplus"} xref: ChEMBL:104671 xref: ChemIDplus:23672-07-3 xref: CiteXplore:18186115 xref: CiteXplore:19165957 xref: CiteXplore:19452563 xref: CiteXplore:19488984 xref: CiteXplore:19795476 xref: CiteXplore:20438811 xref: CiteXplore:20656570 xref: CiteXplore:20850200 xref: CiteXplore:21223496 xref: CiteXplore:21615988 xref: Drug_Central:1577 {source="DrugCentral"} xref: DrugBank:DB00391 xref: KEGG DRUG:D07312 xref: KEGG:D07312 xref: LINCS:LSM-5624 xref: MeSH:C078143 xref: NCIt:C90840 xref: Patent:KR20110090142 xref: Patent:US2011052700 xref: PMID:18186115 {source="Europe PMC"} xref: PMID:19165957 {source="Europe PMC"} xref: PMID:19452563 {source="Europe PMC"} xref: PMID:19488984 {source="Europe PMC"} xref: PMID:19795476 {source="Europe PMC"} xref: PMID:20438811 {source="Europe PMC"} xref: PMID:20656570 {source="Europe PMC"} xref: PMID:20850200 {source="Europe PMC"} xref: PMID:21223496 {source="Europe PMC"} xref: PMID:21615988 {source="Europe PMC"} xref: Reaxys:3563418 {source="Reaxys"} xref: SNOMEDCT:702795007 xref: Wikipedia:Levosulpiride is_a: CHEBI:32168 ! sulpiride relationship: has_role CHEBI:35476 ! antipsychotic agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C15H23N3O4S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C15H23N3O4S/c1-3-18-8-4-5-11(18)10-17-15(19)13-9-12(23(16,20)21)6-7-14(13)22-2/h6-7,9,11H,3-5,8,10H2,1-2H3,(H,17,19)(H2,16,20,21)/t11-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BGRJTUBHPOOWDU-NSHDSACASA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "341.42600" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "341.14093" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCN1CCC[C@H]1CNC(=O)c1cc(ccc1OC)S(N)(=O)=O" xsd:string [Term] id: CHEBI:64123 name: NAN 190 hydrobromide namespace: chebi_ontology def: "A hydrobromide obtained by reaction of NAN 190 with one equivalent of hydrobromic acid." [] subset: 3_STAR synonym: "1-(2-Methoxyphenyl)-4-(4-(2-phthalimido)butyl)piperazine hydrobromide" RELATED [ChemIDplus] synonym: "1-[4-(1,3-dioxo-1,3-dihydro-2H-isoindol-2-yl)butyl]-4-(2-methoxyphenyl)piperazin-1-ium bromide" RELATED [IUPAC] synonym: "2-{4-[4-(2-methoxyphenyl)piperazin-1-yl]butyl}-1H-isoindole-1,3(2H)-dione hydrobromide" EXACT IUPAC_NAME [IUPAC] synonym: "Nan 190" RELATED [ChemIDplus] synonym: "NAN190 hydrobromide" RELATED [ChEBI] xref: CAS:115338-32-4 {source="ChemIDplus"} xref: ChEMBL:805692 xref: ChemIDplus:115338-32-4 xref: Reaxys:4775818 {source="Reaxys"} is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C23H28BrN3O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C23H27N3O3.BrH/c1-29-21-11-5-4-10-20(21)25-16-14-24(15-17-25)12-6-7-13-26-22(27)18-8-2-3-9-19(18)23(26)28;/h2-5,8-11H,6-7,12-17H2,1H3;1H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "AXRUEPFPTQYHQD-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "474.39100" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "473.13140" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Br.COc1ccccc1N1CCN(CCCCN2C(=O)c3ccccc3C2=O)CC1" xsd:string [Term] id: CHEBI:64134 name: 2-\{[(2E)-3-iodoprop-2-en-1-yl](propyl)amino}tetralin-7-ol maleate namespace: chebi_ontology def: "A maleate salt obtained by reaction of 2-{[(2E)-3-iodoprop-2-en-1-yl](propyl)amino}tetralin-7-ol with one equivalent of maleic acid. This ligand has uniquely high affinity and selectivity for the D3 receptor." [] subset: 3_STAR synonym: "2-{[(2E)-3-iodoallyl](propyl)amino}tetralin-7-ol maleate" RELATED [ChEBI] synonym: "7-hydroxy-N-[(2E)-3-iodoprop-2-en-1-yl]-N-propyl-1,2,3,4-tetrahydronaphthalen-2-aminium (2Z)-3-carboxyacrylate" RELATED [IUPAC] synonym: "7-hydroxy-PIPAT maleate" RELATED [ChEBI] synonym: "7-{[(2E)-3-iodoprop-2-en-1-yl](propyl)amino}-5,6,7,8-tetrahydronaphthalen-2-ol (2Z)-but-2-enedioate" EXACT IUPAC_NAME [IUPAC] synonym: "7-{[(2E)-3-iodoprop-2-en-1-yl](propyl)amino}-5,6,7,8-tetrahydronaphthalen-2-ol maleate" RELATED [ChEBI] is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H26INO5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C16H22INO.C4H4O4/c1-2-9-18(10-3-8-17)15-6-4-13-5-7-16(19)12-14(13)11-15;5-3(6)1-2-4(7)8/h3,5,7-8,12,15,19H,2,4,6,9-11H2,1H3;1-2H,(H,5,6)(H,7,8)/b8-3+;2-1-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IQRDHLSQXOATHD-HBRCEPSSSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "487.32860" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "487.08557" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)\\C=C/C(O)=O.CCCN(C\\C=C\\I)C1CCc2ccc(O)cc2C1" xsd:string [Term] id: CHEBI:64139 name: (2R,3S)-EHNA hydrochloride namespace: chebi_ontology def: "A hydrochloride salt obtained by reaction of (2R,3S)-EHNA with one equivalent of hydrochloric acid. Selective inhibitor of cGMP-stimulated phosphodiesterase (PDE2) (IC50 = 0.8 - 4 mM). Also a potent inhibitor of adenosine deaminase." [] subset: 3_STAR synonym: "(2R,3S)-3-(6-amino-9H-purin-9-yl)nonan-2-ol hydrochloride" EXACT IUPAC_NAME [IUPAC] synonym: "(2R,3S)-3-(adenin-9-yl)-2-nonanol hydrochloride" RELATED [ChEBI] synonym: "(2R,3S)-9-(2-hydroxy-3-nonyl)adenine hydrochloride" RELATED [ChEBI] synonym: "(2R,3S)-EHNA.HCl" RELATED [ChEBI] synonym: "(R,S)-6-amino-beta-hexyl-alpha-methyl-9H-purine-9-ethanol hydrochloride" RELATED [ChEBI] synonym: "erythro-9-(2-hydroxy-3-nonyl)adenine hydrochloride" RELATED [ChEBI] xref: ChEMBL:806089 xref: Reaxys:4729841 {source="Reaxys"} is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C14H24ClN5O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C14H23N5O.ClH/c1-3-4-5-6-7-11(10(2)20)19-9-18-12-13(15)16-8-17-14(12)19;/h8-11,20H,3-7H2,1-2H3,(H2,15,16,17);1H/t10-,11+;/m1./s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VVDXNJRUNJMYOZ-DHXVBOOMSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "313.82600" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "313.16694" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cl.CCCCCC[C@@H]([C@@H](C)O)n1cnc2c(N)ncnc12" xsd:string [Term] id: CHEBI:64142 name: tropanyl 3,5-dimethylbenzoate namespace: chebi_ontology def: "A tropane alkaloid that consists of tropine in which the hydrogen of the hydroxy function is substituted by a 3,5-dimethylbenzoyl group." [] subset: 3_STAR synonym: "(3-endo)-8-methyl-8-azabicyclo[3.2.1]oct-3-yl 3,5-dimethylbenzoate" EXACT IUPAC_NAME [IUPAC] synonym: "MDL 72222" RELATED [ChEBI] synonym: "tropanserin" RELATED INN [ChemIDplus] synonym: "tropanserina" RELATED INN [ChemIDplus] synonym: "tropanserine" RELATED INN [ChemIDplus] synonym: "tropanserinum" RELATED INN [ChemIDplus] synonym: "Tropyl 3,5-dimethylbenzoate" RELATED [ChemIDplus] xref: CAS:85181-40-4 {source="ChemIDplus"} xref: ChEMBL:1221273 xref: ChemIDplus:85181-40-4 xref: CiteXplore:1314791 xref: CiteXplore:15350826 xref: CiteXplore:17948891 xref: CiteXplore:18718451 xref: CiteXplore:19953653 xref: CiteXplore:2223050 xref: CiteXplore:2498925 xref: CiteXplore:3990828 xref: CiteXplore:6472484 xref: CiteXplore:8048747 xref: CiteXplore:8429917 xref: CiteXplore:9838105 xref: NCIt:C95218 xref: PMID:1314791 {source="Europe PMC"} xref: PMID:15350826 {source="Europe PMC"} xref: PMID:17948891 {source="Europe PMC"} xref: PMID:18718451 {source="Europe PMC"} xref: PMID:19953653 {source="Europe PMC"} xref: PMID:2223050 {source="Europe PMC"} xref: PMID:2498925 {source="Europe PMC"} xref: PMID:3990828 {source="Europe PMC"} xref: PMID:6472484 {source="Europe PMC"} xref: PMID:8048747 {source="Europe PMC"} xref: PMID:8429917 {source="Europe PMC"} xref: PMID:9838105 {source="Europe PMC"} xref: Reaxys:21043097 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:48279 ! serotonergic antagonist property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C17H23NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C17H23NO2/c1-11-6-12(2)8-13(7-11)17(19)20-16-9-14-4-5-15(10-16)18(14)3/h6-8,14-16H,4-5,9-10H2,1-3H3/t14-,15+,16+" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HDDNYFLPWFSBLN-ZSHCYNCHSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "273.37000" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "273.17288" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN1[C@H]2CC[C@@H]1C[C@@H](C2)OC(=O)c1cc(C)cc(C)c1" xsd:string [Term] id: CHEBI:64143 name: depudecin namespace: chebi_ontology def: "A polyketide obtained from the fungus Alternaria brassicicola and having a highly unusual structure of an 11-carbon chain containing two epoxides and six stereogenic centres. It is an inhibitor of histone deacetylase (HDAC) both in vivo and in vitro and also exhibits anti-angiogenic activity." [] subset: 3_STAR synonym: "(-)-depudecin" RELATED [ChEBI] synonym: "(1R)-1-{(2S,3S)-3-[(E)-2-{(2S,3S)-3-[(1R)-1-hydroxyethyl]oxiran-2-yl}ethenyl]oxiran-2-yl}prop-2-en-1-ol" EXACT IUPAC_NAME [IUPAC] synonym: "(1S,3E,6S)-1,2:5,6-dianhydro-3,4-dideoxy-1-[(1R)-1-hydroxyethyl]-6-[(1R)-1-hydroxyprop-2-en-1-yl]-D-threo-hex-3-enitol" EXACT IUPAC_NAME [IUPAC] synonym: "4,5:8,9-dianhydro-1,2,6,7,11-pentadeoxy-D-threo-D-ido-undeca-1,6-dienitol" RELATED [ChEBI] xref: CAS:139508-73-9 {source="ChemIDplus"} xref: PMID:10737176 {source="Europe PMC"} xref: PMID:11562279 {source="Europe PMC"} xref: PMID:12623206 {source="Europe PMC"} xref: PMID:1500354 {source="Europe PMC"} xref: PMID:1731795 {source="Europe PMC"} xref: PMID:19737099 {source="Europe PMC"} xref: PMID:8845831 {source="Europe PMC"} xref: PMID:9383455 {source="Europe PMC"} xref: PMID:9520362 {source="Europe PMC"} xref: PMID:9520369 {source="Europe PMC"} xref: Reaxys:6803701 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C11H16O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C11H16O4/c1-3-7(13)11-9(15-11)5-4-8-10(14-8)6(2)12/h3-13H,1H2,2H3/b5-4+/t6-,7-,8+,9+,10+,11+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DLVJMFOLJOOWFS-INMLLLKOSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "212.24230" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "212.10486" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]1(O[C@H]1\\C=C\\[C@@H]1O[C@@]1([H])[C@H](O)C=C)[C@@H](C)O" xsd:string [Term] id: CHEBI:64144 name: 1-[1-(1-benzothiophen-2-yl)cyclohexyl]piperidine maleate namespace: chebi_ontology def: "A maleate salt obtained by reaction of 1-[1-(1-benzothiophen-2-yl)cyclohexyl]piperidine with one equivalent of maleic acid. A potent dopamine re-uptake inhibitor with a behavioral profile different from that of PCP and similar to that of cocaine." [] subset: 3_STAR synonym: "1-[1-(1-benzothiophen-2-yl)cyclohexyl]piperidine (2Z)-but-2-enedioate" EXACT IUPAC_NAME [IUPAC] synonym: "1-[1-(1-benzothiophen-2-yl)cyclohexyl]piperidinium (2Z)-3-carboxyacrylate" RELATED [IUPAC] synonym: "benocyclidine maleate" RELATED [ChEBI] synonym: "BTCP maleate" RELATED [ChEBI] xref: CAS:207455-25-2 {source="ChEBI"} xref: Chemspider:8426776 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C23H29NO4S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H25NS.C4H4O4/c1-5-11-19(12-6-1,20-13-7-2-8-14-20)18-15-16-9-3-4-10-17(16)21-18;5-3(6)1-2-4(7)8/h3-4,9-10,15H,1-2,5-8,11-14H2;1-2H,(H,5,6)(H,7,8)/b;2-1-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "AMTYJSWZECGJOO-BTJKTKAUSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "415.54600" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "415.18173" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)\\C=C/C(O)=O.C1CCN(CC1)C1(CCCCC1)c1cc2ccccc2s1" xsd:string [Term] id: CHEBI:64147 name: 5-nonyloxytryptamine oxalate namespace: chebi_ontology def: "An oxalate salt obtained by reaction of 5-nonyloxytryptamine with one equivalent of oxalic acid. 5-HT1B selective agonist, several times more potent than sumatriptan and inactive as a 5-HT1A agonist (Ki at 5-HT1B = 1 nM, selectivity over 5-HT1A > 300-fold)." [] subset: 3_STAR synonym: "2-[5-(nonyloxy)-1H-indol-3-yl]ethanamine ethanedioate" EXACT IUPAC_NAME [IUPAC] synonym: "2-[5-(nonyloxy)-1H-indol-3-yl]ethanamine oxalate" RELATED [ChEBI] synonym: "2-[5-(nonyloxy)-1H-indol-3-yl]ethanaminium hydrogen oxalate" RELATED [IUPAC] synonym: "3-(2-aminoethyl)-5-nonyloxyindole oxalate" RELATED [ChEBI] synonym: "O-nonylserotonin oxalate" RELATED [ChEBI] xref: Reaxys:7065207 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C21H32N2O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H30N2O.C2H2O4/c1-2-3-4-5-6-7-8-13-22-17-9-10-19-18(14-17)16(11-12-20)15-21-19;3-1(4)2(5)6/h9-10,14-15,21H,2-8,11-13,20H2,1H3;(H,3,4)(H,5,6)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JORSCLBFSAAOFR-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "392.48920" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "392.23112" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)C(O)=O.CCCCCCCCCOc1ccc2[nH]cc(CCN)c2c1" xsd:string [Term] id: CHEBI:64151 name: imetit dihydrobromide namespace: chebi_ontology def: "A hydrobromide salt obtained by reaction of imetit with two equivalents of hydrobromic acid. An extremely potent, high affinity agonist at H3 and H4 receptors (Ki values are 0.3 and 2.7 nM respectively). Induces shape change in eosinophils with an EC50 of 25 nM. Centrally active following systemic administration." [] subset: 3_STAR synonym: "2-(1H-imidazol-4-yl)ethyl carbamimidothioate dihydrobromide" EXACT IUPAC_NAME [IUPAC] synonym: "imetit hydrobromide" RELATED [ChEBI] synonym: "S-{2-[1H-imidazol-4-yl]ethyl}isothiourea dihydrobromide" RELATED [ChEBI] xref: CAS:32385-58-3 {source="Reaxys"} xref: ChEMBL:1014759 xref: Reaxys:32385-58-3 xref: Reaxys:5833853 {source="Reaxys"} is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H12Br2N4S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H10N4S.2BrH/c7-6(8)11-2-1-5-3-9-4-10-5;;/h3-4H,1-2H2,(H3,7,8)(H,9,10);2*1H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DOBOYMKCRRLTRF-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "332.05900" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "329.91494" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Br.Br.NC(=N)SCCc1c[nH]cn1" xsd:string [Term] id: CHEBI:64153 name: tanespimycin namespace: chebi_ontology def: "A 19-membered macrocyle that is geldanamycin in which the methoxy substituent attached to the benzoquinone moiety has been replaced by an allylamino group. It is a potent inhibitor of heat shock protein 90 (Hsp90). A less toxic analogue than geldanamycin, it induces apoptosis and displays antitumour effects." [] subset: 3_STAR synonym: "(4E,6Z,8S,9S,10E,12S,13R,14S,16R)-13-hydroxy-8,14-dimethoxy-4,10,12,16-tetramethyl-3,20,22-trioxo-19-(prop-2-en-1-ylamino)-2-azabicyclo[16.3.1]docosa-1(21),4,6,10,18-pentaen-9-yl carbamate" EXACT IUPAC_NAME [IUPAC] synonym: "17-(Allylamino)-17-demethoxygeldanamycin" RELATED [ChemIDplus] synonym: "17-(Allylamino)geldanamycin" RELATED [ChemIDplus] synonym: "17-AAG" RELATED [ChEBI] synonym: "17-allylaminogeldanamycin" RELATED [ChEBI] synonym: "17-demethoxy-17-(2-propenylamino)geldanamycin" RELATED [ChemIDplus] synonym: "17-Demethoxy-17-allylamino geldanamycin" RELATED [ChemIDplus] synonym: "17-N-allylamino-17-demethoxygeldanamycin" RELATED [ChEBI] synonym: "17AAG" RELATED [ChEBI] synonym: "NSC 330507" RELATED [ChemIDplus] synonym: "NSC-330507" RELATED [ChemIDplus] synonym: "tanespimycin" RELATED INN [WHO_MedNet] synonym: "tanespimycina" RELATED INN [WHO_MedNet] synonym: "tanespimycine" RELATED INN [WHO_MedNet] synonym: "tanespimycinum" RELATED INN [WHO_MedNet] xref: CAS:75747-14-7 {source="ChemIDplus"} xref: ChEMBL:283934 xref: ChemIDplus:75747-14-7 xref: CiteXplore:20652703 xref: CiteXplore:20683637 xref: CiteXplore:21219297 xref: CiteXplore:21283735 xref: CiteXplore:21454186 xref: CiteXplore:21534941 xref: CiteXplore:21558407 xref: CiteXplore:21594721 xref: CiteXplore:21670086 xref: CiteXplore:21791475 xref: CiteXplore:21856392 xref: CiteXplore:22047770 xref: CiteXplore:22209975 xref: CiteXplore:22377218 xref: KEGG:D06650 xref: MeSH:C112765 xref: NCIt:C37899 xref: PMID:20646760 {source="Europe PMC"} xref: PMID:20652703 {source="Europe PMC"} xref: PMID:20683637 {source="Europe PMC"} xref: PMID:21219297 {source="Europe PMC"} xref: PMID:21283735 {source="Europe PMC"} xref: PMID:21454186 {source="Europe PMC"} xref: PMID:21534941 {source="Europe PMC"} xref: PMID:21558407 {source="Europe PMC"} xref: PMID:21594721 {source="Europe PMC"} xref: PMID:21670086 {source="Europe PMC"} xref: PMID:21791475 {source="Europe PMC"} xref: PMID:21856392 {source="Europe PMC"} xref: PMID:22047770 {source="Europe PMC"} xref: PMID:22209975 {source="Europe PMC"} xref: PMID:22377218 {source="Europe PMC"} xref: PMID:22621282 {source="Europe PMC"} xref: PMID:23564374 {source="Europe PMC"} xref: PMID:24317439 {source="Europe PMC"} xref: PMID:25096912 {source="Europe PMC"} xref: PMID:25633180 {source="Europe PMC"} xref: PMID:25952464 {source="Europe PMC"} xref: PMID:26277605 {source="Europe PMC"} xref: PMID:26408708 {source="Europe PMC"} xref: PMID:26872308 {source="Europe PMC"} xref: PMID:26913406 {source="Europe PMC"} xref: PMID:26922527 {source="Europe PMC"} xref: PMID:27045471 {source="Europe PMC"} xref: Reaxys:7402240 {source="Reaxys"} xref: Wikipedia:17-N-Allylamino-17-demethoxygeldanamycin is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:35610 ! antineoplastic agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C31H43N3O8" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C31H43N3O8/c1-8-12-33-26-21-13-17(2)14-25(41-7)27(36)19(4)15-20(5)29(42-31(32)39)24(40-6)11-9-10-18(3)30(38)34-22(28(21)37)16-23(26)35/h8-11,15-17,19,24-25,27,29,33,36H,1,12-14H2,2-7H3,(H2,32,39)(H,34,38)/b11-9-,18-10+,20-15+/t17-,19+,24+,25+,27-,29+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "AYUNIORJHRXIBJ-TXHRRWQRSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "585.690" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "585.30502" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C=1C(C(=C2C(C1NC(=O)C(C)=CC=C[C@@H]([C@@H](OC(N)=O)C(C)=C[C@@H]([C@H]([C@H](C[C@@H](C2)C)OC)O)C)OC)=O)NCC=C)=O" xsd:string [Term] id: CHEBI:64158 name: 2-methyl-6-(phenylethynyl)pyridine hydrochloride namespace: chebi_ontology def: "A hydrochloride salt obtained by reaction of 2-methyl-6-(phenylethynyl)pyridine with one equivalent of hydrochloric acid. Potent and highly selective non-competitive antagonist at the mGlu5 receptor subtype (IC50 = 36 nM) and a positive allosteric modulator at mGlu4 receptors. Centrally active following systemic administration in vivo. Reverses mechanical hyperalgesia in the inflamed rat hind paw." [] subset: 3_STAR synonym: "2-methyl-6-(phenylethynyl)pyridine hydrochloride" EXACT IUPAC_NAME [IUPAC] synonym: "2-methyl-6-(phenylethynyl)pyridinium chloride" RELATED [IUPAC] synonym: "6-methyl-2-(phenylethynyl)pyridine hydrochloride" RELATED [ChEBI] synonym: "6-methyl-2-(phenylethynyl)pyridinium chloride" RELATED [ChEBI] synonym: "MPEP hydrochloride" RELATED [ChEBI] xref: ChEMBL:804849 xref: CiteXplore:20347777 xref: PMID:20347777 {source="Europe PMC"} xref: Reaxys:9652435 {source="Reaxys"} is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C14H12ClN" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C14H11N.ClH/c1-12-6-5-9-14(15-12)11-10-13-7-3-2-4-8-13;/h2-9H,1H3;1H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PKDHDJBNEKXCBI-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "229.70500" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "229.06583" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cl.Cc1cccc(n1)C#Cc1ccccc1" xsd:string [Term] id: CHEBI:64162 name: N-methylquipazine dimaleate namespace: chebi_ontology def: "A maleate salt obtained by reaction of N-methylquipazine with two equivalents of maleic acid. A 5-HT3 agonist. Has almost the same affinity for 5-HT3 sites as quipazine but unlike the latter, does not bind to 5-HT1B sites." [] subset: 3_STAR synonym: "2-(4-methylpiperazin-1-yl)quinoline di[(2Z)-but-2-enedioate]" EXACT IUPAC_NAME [IUPAC] synonym: "2-(4-methylpiperazin-1-yl)quinoline dimaleate" RELATED [ChEBI] synonym: "2-(4-methylpiperazin-1-yl)quinoline maleate" RELATED [ChEBI] synonym: "N-methylquipazine maleate" RELATED [ChEBI] xref: ChEMBL:934632 xref: Reaxys:7614127 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:48278 ! serotonergic drug property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H25N3O8" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C14H17N3.2C4H4O4/c1-16-8-10-17(11-9-16)14-7-6-12-4-2-3-5-13(12)15-14;2*5-3(6)1-2-4(7)8/h2-7H,8-11H2,1H3;2*1-2H,(H,5,6)(H,7,8)/b;2*2-1-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HNSITEGFVDCKMF-SPIKMXEPSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "459.44920" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "459.16416" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H+].[H+].[H+].[H+].[O-]C(=O)\\C=C/C([O-])=O.[O-]C(=O)\\C=C/C([O-])=O.CN1CCN(CC1)c1ccc2ccccc2n1" xsd:string [Term] id: CHEBI:64163 name: diquat namespace: chebi_ontology def: "The organic cation formed formally by addition of an ethylene bridge between the nitrogen atoms of 2,2'-bipyridine. Most often available as the dibromide." [] subset: 3_STAR synonym: "1,1'-Ethylene-2,2'-bipyridyldylium ion" RELATED [ChemIDplus] synonym: "1,1'-Ethylene-2,2'-bipyridylium ion" RELATED [ChemIDplus] synonym: "6,7-dihydrodipyrido[1,2-a:2',1'-c]pyrazinediium" EXACT IUPAC_NAME [IUPAC] synonym: "9,10-Dihydro-8a,10a-diazoniaphenanthrene" RELATED [ChemIDplus] synonym: "Diquat dication" RELATED [ChemIDplus] xref: CAS:2764-72-9 {source="ChemIDplus"} xref: CAS:2764-72-9 {source="KEGG COMPOUND"} xref: ChEMBL:1148671 xref: ChemIDplus:2764-72-9 xref: KEGG:C18577 xref: MeSH:D004178 xref: PPDB:1541 xref: Reaxys:3670526 {source="Reaxys"} xref: SNOMEDCT:117156009 xref: Wikipedia:Diquat is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:33286 ! agrochemical property_value: http://purl.obolibrary.org/obo/chebi/charge "+2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12H12N2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C12H12N2/c1-3-7-13-9-10-14-8-4-2-6-12(14)11(13)5-1/h1-8H,9-10H2/q+2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SYJFEGQWDCRVNX-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "184.23710" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "184.09895" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C1C[n+]2ccccc2-c2cccc[n+]12" xsd:string [Term] id: CHEBI:64165 name: clobenpropit dihydrobromide namespace: chebi_ontology def: "A hydrobromide salt obtained by reaction of clobenpropit with two equivalents of hydrobromic acid. An extremely potent histamine H3 antagonist/inverse agonist (pA2 = 9.93). Also displays partial agonist activity at H4 receptors; induces eosinophil shape change with an EC50 of 3 nM." [] subset: 3_STAR synonym: "3-(1H-imidazol-4-yl)propyl N-(4-chlorobenzyl)carbamimidothioate dihydrobromide" EXACT IUPAC_NAME [IUPAC] synonym: "clobenpropit hydrobromide" RELATED [ChEBI] xref: CAS:145231-35-2 {source="Reaxys"} xref: Reaxys:145231-35-2 xref: Reaxys:584034 {source="Reaxys"} is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C14H19Br2ClN4S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C14H17ClN4S.2BrH/c15-12-5-3-11(4-6-12)8-18-14(16)20-7-1-2-13-9-17-10-19-13;;/h3-6,9-10H,1-2,7-8H2,(H2,16,18)(H,17,19);2*1H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JIJQPEZAVLJZBO-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "470.65300" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "467.93857" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Br.Br.Clc1ccc(CNC(=N)SCCCc2c[nH]cn2)cc1" xsd:string [Term] id: CHEBI:64187 name: benserazide namespace: chebi_ontology def: "A carbohydrazide that results from the formal condensation of the carboxy group of DL-serine with the primary amino group of 4-(hydrazinylmethyl)benzene-1,2,3-triol. An aromatic-L-amino-acid decarboxylase inhibitor (DOPA decarboxylase inhibitor) that does not enter the central nervous system, it is used as its hydrochloride salt as an adjunct to levodopa in the treatment of parkinsonism. By preventing the conversion of levodopa to dopamine in the periphery, it causes an increase in the amount of levodopa reaching the central nervous system and so reduces the required dose. Benserazide has no antiparkinson actions when given alone." [] subset: 3_STAR synonym: "2-amino-3-hydroxy-N'-(2,3,4-trihydroxybenzyl)propanehydrazide" EXACT IUPAC_NAME [IUPAC] synonym: "benserazida" RELATED INN [ChemIDplus] synonym: "benserazide" RELATED INN [ChemIDplus] synonym: "benserazidum" RELATED INN [ChemIDplus] synonym: "DL-serine 2-(2,3,4-trihydroxybenzyl)hydrazide" RELATED [ChemIDplus] synonym: "DL-serine 2-[(2,3,4-trihydroxyphenyl)methyl]hydrazide" RELATED [ChemIDplus] synonym: "Ro 4-4602" RELATED [ChemIDplus] synonym: "Ro 44602" RELATED [ChemIDplus] xref: CAS:322-35-0 {source="ChemIDplus"} xref: ChEMBL:727070 xref: ChemIDplus:322-35-0 xref: CiteXplore:12703659 xref: CiteXplore:22236652 xref: Drug_Central:314 {source="DrugCentral"} xref: KEGG DRUG:D03082 xref: KEGG:D03082 xref: LINCS:LSM-5097 xref: MeSH:D001545 xref: NCIt:C81109 xref: Patent:BE619015 xref: Patent:US3178476 xref: PMID:12703659 {source="Europe PMC"} xref: PMID:22236652 {source="Europe PMC"} xref: Reaxys:3984490 {source="Reaxys"} xref: SNOMEDCT:391821005 xref: SNOMEDCT:420240007 xref: Wikipedia:Benserazide is_a: CHEBI:33853 ! phenols relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H15N3O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H15N3O5/c11-6(4-14)10(18)13-12-3-5-1-2-7(15)9(17)8(5)16/h1-2,6,12,14-17H,3-4,11H2,(H,13,18)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BNQDCRGUHNALGH-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "257.24320" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "257.10117" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NC(CO)C(=O)NNCc1ccc(O)c(O)c1O" xsd:string [Term] id: CHEBI:64191 name: nafadotride namespace: chebi_ontology def: "A naphthalenecarboxamide resulting from the formal condensation of the carboxylic acid group of 4-cyano-1-methoxynaphthalene-2-carboxylic acid with the primary amino group of 1-(1-butylpyrrolidin-2-yl]methanamine. It is a highly potent, competitive, preferential dopamine D3 receptor antagonist, centrally active upon systemic administration." [] subset: 3_STAR synonym: "(+-)-nafadotride" RELATED [ChEBI] synonym: "N-[(1-butylpyrrolidin-2-yl)methyl]-4-cyano-1-methoxynaphthalene-2-carboxamide" EXACT IUPAC_NAME [IUPAC] synonym: "nafadotride" EXACT [ChEBI] xref: CAS:149649-22-9 {source="ChemIDplus"} xref: ChEMBL:134432 xref: ChemIDplus:149649-22-9 xref: CiteXplore:8531087 xref: CiteXplore:9252981 xref: LINCS:LSM-1755 xref: MeSH:C097285 xref: PMID:8531087 {source="Europe PMC"} xref: PMID:9252981 {source="Europe PMC"} xref: Reaxys:8356954 {source="Reaxys"} xref: Wikipedia:Nafadotride is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H27N3O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C22H27N3O2/c1-3-4-11-25-12-7-8-17(25)15-24-22(26)20-13-16(14-23)18-9-5-6-10-19(18)21(20)27-2/h5-6,9-10,13,17H,3-4,7-8,11-12,15H2,1-2H3,(H,24,26)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IDZASIQMRGPBCQ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "365.46870" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "365.21033" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCN1CCCC1CNC(=O)c1cc(C#N)c2ccccc2c1OC" xsd:string [Term] id: CHEBI:64194 name: paroxetine maleate namespace: chebi_ontology def: "A maleate salt obtained by reaction of paroxetine with one equivalent of maleic acid. Highly potent and selective 5-HT uptake inhibitor that binds with high affinity to the serotonin transporter (Ki = 0.05 nM). Ki values are 1.1, 350 and 1100 nM for inhibition of [3H]-5-HT, [3H]-l-NA and [3H]-DA uptake respectively. Displays minimal affinity for alpha1-, alpha2- or beta-adrenoceptors, 5-HT2A, 5-HT1A, D2 or H1 receptors at concentrations below 1000 nM, however displays weak affinity for muscarinic ACh receptors (Ki = 42 nM). Antidepressant and anxiolytic in vivo." [] subset: 3_STAR synonym: "(-)-alpha-4-(4-Fluorophenyl)-3-(1,3-benzdioxolyl-(3))-oxymethyl piperidine maleate" RELATED [ChemIDplus] synonym: "(3S,4R)-3-[(1,3-benzodioxol-5-yloxy)methyl]-4-(4-fluorophenyl)piperidine (2Z)-but-2-enedioate" EXACT IUPAC_NAME [IUPAC] synonym: "(3S,4R)-3-[(1,3-benzodioxol-5-yloxy)methyl]-4-(4-fluorophenyl)piperidine maleate" RELATED [ChEBI] synonym: "(3S,4R)-3-[(1,3-benzodioxol-5-yloxy)methyl]-4-(4-fluorophenyl)piperidinium (2Z)-3-carboxyacrylate" RELATED [IUPAC] synonym: "trans-(-)-3-((1,3-Benzodioxol-5-yloxy)methyl)-4-(4-fluorophenyl)piperidine maleate" RELATED [ChemIDplus] xref: CAS:64006-44-6 {source="ChemIDplus"} xref: ChEMBL:973374 xref: ChemIDplus:64006-44-6 xref: DrugBank:DB00715 xref: Patent:EP1078925 xref: Patent:EP269303 xref: Patent:US4745122 xref: Patent:US5874447 xref: Patent:US6440459 xref: Reaxys:14623212 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:35469 ! antidepressant property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C23H24FNO7" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H20FNO3.C4H4O4/c20-15-3-1-13(2-4-15)17-7-8-21-10-14(17)11-22-16-5-6-18-19(9-16)24-12-23-18;5-3(6)1-2-4(7)8/h1-6,9,14,17,21H,7-8,10-12H2;1-2H,(H,5,6)(H,7,8)/b;2-1-/t14-,17-;/m0./s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "AEIUZSKXSWGSRU-QXGDPHCHSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "445.43760" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "445.15368" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)\\C=C/C(O)=O.[H][C@]1(CCNC[C@H]1COc1ccc2OCOc2c1)c1ccc(F)cc1" xsd:string [Term] id: CHEBI:64195 name: ritanserin namespace: chebi_ontology def: "A thiazolopyrimidine that is 5H-[1,3]thiazolo[3,2-a]pyrimidin-5-one which is substituted at position 7 by a methyl group and at position 6 by a 2-{4-[bis(4-fluorophenyl)methylidene]piperidin-1-yl}ethyl group. A potent and long-acting seratonin (5-hydroxytryptamine, 5-HT) antagonist of the subtype 5-HT2 (Ki = 0.39 nM), it is used in the treatment of a variety of disorders including anxiety, depression and schizophrenia. It has little sedative action." [] subset: 3_STAR synonym: "6-(2-(4-(bis(p-fluorophenyl)methylene)-piperidino)ethyl)-7-methyl-5H-thiazolo-(3,2-a)pyrimidin-5-one" RELATED [ChemIDplus] synonym: "6-(2-{4-[bis(4-fluorophenyl)methylidene]piperidin-1-yl}ethyl)-7-methyl-5H-[1,3]thiazolo[3,2-a]pyrimidin-5-one" EXACT IUPAC_NAME [IUPAC] synonym: "R 55,667" RELATED [ChemIDplus] synonym: "R-55667" RELATED [ChEBI] synonym: "ritanserin" RELATED INN [ChemIDplus] synonym: "ritanserina" RELATED INN [ChemIDplus] synonym: "ritanserine" RELATED INN [ChemIDplus] synonym: "ritanserinum" RELATED INN [ChemIDplus] xref: CAS:87051-43-2 {source="ChemIDplus"} xref: ChEMBL:110747 xref: ChemIDplus:87051-43-2 xref: CiteXplore:11897543 xref: CiteXplore:12905101 xref: CiteXplore:18801405 xref: CiteXplore:8974378 xref: KEGG DRUG:D05738 xref: KEGG:D05738 xref: LINCS:LSM-2906 xref: MeSH:D016713 xref: NCIt:C95217 xref: Patent:US4533665 xref: PMID:11897543 {source="Europe PMC"} xref: PMID:12905101 {source="Europe PMC"} xref: PMID:18801405 {source="Europe PMC"} xref: PMID:20825390 {source="Europe PMC"} xref: PMID:8974378 {source="Europe PMC"} xref: Reaxys:4913835 {source="Reaxys"} xref: Wikipedia:Ritanserin is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:48279 ! serotonergic antagonist relationship: has_role CHEBI:48561 ! dopaminergic antagonist property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C27H25F2N3OS" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C27H25F2N3OS/c1-18-24(26(33)32-16-17-34-27(32)30-18)12-15-31-13-10-21(11-14-31)25(19-2-6-22(28)7-3-19)20-4-8-23(29)9-5-20/h2-9,16-17H,10-15H2,1H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JUQLTPCYUFPYKE-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "477.56900" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "477.16864" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cc1nc2sccn2c(=O)c1CCN1CCC(CC1)=C(c1ccc(F)cc1)c1ccc(F)cc1" xsd:string [Term] id: CHEBI:64198 name: dimercaprol namespace: chebi_ontology def: "A dithiol that is propane-1,2-dithiol in which one of the methyl hydrogens is replaced by a hydroxy group. a chelating agent originally developed during World War II as an experimental antidote against the arsenic-based poison gas Lewisite, it has been used clinically since 1949 for the treatment of poisoning by arsenic, mercury and gold. It can also be used for treatment of poisoning by antimony, bismuth and possibly thallium, and (with sodium calcium edetate) in cases of acute leaad poisoning. Administration is by (painful) intramuscular injection of a suspension of dimercaprol in peanut oil, typically every 4 hours for 2-10 days depending on the toxicity. In the past, dimercaprol was also used for the treatment of Wilson's disease, a severely debilitating genetic disorder in which the body tends to retain copper, with resultant liver and brain injury." [] subset: 3_STAR synonym: "1,2-dimercapto-3-propanol" RELATED [ChemIDplus] synonym: "1,2-dithioglycerol" RELATED [ChemIDplus] synonym: "2,3-Dimercapto-1-propanol" RELATED [KEGG_COMPOUND] synonym: "2,3-dimercapto-1-propanol" RELATED [ChemIDplus] synonym: "2,3-dimercaptol-1-propanol" RELATED [ChemIDplus] synonym: "2,3-dimercaptopropanol" RELATED [ChemIDplus] synonym: "2,3-disulfanylpropan-1-ol" EXACT IUPAC_NAME [IUPAC] synonym: "2,3-dithiopropanol" RELATED [ChemIDplus] synonym: "2,3-mercaptopropan-1-ol" RELATED [NIST_Chemistry_WebBook] synonym: "2,3-Mercaptopropanol" RELATED [KEGG_COMPOUND] synonym: "3-hydroxy-1,2-propanedithiol" RELATED [ChemIDplus] synonym: "alpha,beta-dithioglycerol" RELATED [ChemIDplus] synonym: "BAL" RELATED [ChemIDplus] synonym: "British anti-Lewisite" RELATED [DrugBank] synonym: "British anti-lewisite" RELATED [KEGG_COMPOUND] synonym: "British antilewisite" RELATED [ChemIDplus] synonym: "dimercaprol" RELATED INN [ChemIDplus] synonym: "dimercaprolum" RELATED INN [ChemIDplus] synonym: "dimercaptopropanol" RELATED [ChemIDplus] synonym: "dithioglycerine" RELATED [NIST_Chemistry_WebBook] synonym: "dithioglycerol" RELATED [ChemIDplus] synonym: "sulfactin" RELATED [ChemIDplus] xref: CAS:59-52-9 {source="ChemIDplus"} xref: CAS:59-52-9 {source="KEGG COMPOUND"} xref: CAS:59-52-9 {source="NIST Chemistry WebBook"} xref: Drug_Central:3150 {source="DrugCentral"} xref: DrugBank:DB06782 xref: KEGG:C02924 xref: KEGG:D00167 xref: Patent:US2402665 xref: PMID:12605205 {source="Europe PMC"} xref: PMID:14882450 {source="Europe PMC"} xref: PMID:21006485 {source="Europe PMC"} xref: PMID:21803782 {source="Europe PMC"} xref: PMID:9292286 {source="Europe PMC"} xref: Reaxys:1732058 {source="Reaxys"} xref: Wikipedia:Dimercaprol is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H8OS2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H8OS2/c4-1-3(6)2-5/h3-6H,1-2H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WQABCVAJNWAXTE-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "124.22500" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "124.00166" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OCC(S)CS" xsd:string [Term] id: CHEBI:64199 name: carmoxirole hydrochloride namespace: chebi_ontology def: "A hydrochloride salt obtained by reaction of carmoxirole with one equivalent of hydrochloric acid. Selective, peripherally acting dopamine D2 receptor agonist. Modulates noradrenalin release and sympathetic activation. Displays antihypertensive properties in vivo." [] subset: 3_STAR synonym: "1-[4-(5-carboxy-1H-indol-3-yl)butyl]-4-phenyl-1,2,3,6-tetrahydropyridinium chloride" RELATED [IUPAC] synonym: "3-[4-(4-phenyl-3,6-dihydropyridin-1(2H)-yl)butyl]-1H-indole-5-carboxylic acid hydrochloride" EXACT IUPAC_NAME [IUPAC] xref: ChEMBL:1134451 xref: Reaxys:5689787 {source="Reaxys"} is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C24H27ClN2O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C24H26N2O2.ClH/c27-24(28)20-9-10-23-22(16-20)21(17-25-23)8-4-5-13-26-14-11-19(12-15-26)18-6-2-1-3-7-18;/h1-3,6-7,9-11,16-17,25H,4-5,8,12-15H2,(H,27,28);1H" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LRJUHOBITQUXIO-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "410.93600" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "410.17611" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cl.OC(=O)c1ccc2[nH]cc(CCCCN3CCC(=CC3)c3ccccc3)c2c1" xsd:string [Term] id: CHEBI:64202 name: methiothepin maleate namespace: chebi_ontology def: "A maleate salt obtained by reaction of methiothepin with one equivalent of maleic acid. Potent 5-HT2 antagonist, also active as 5-HT1 antagonist. Differentiates 5-HT1D sub-types. Also displays affinity for rodent 5-HT5B, 5-HT5A, 5-HT7 and 5-HT6 receptors (pK1 values are 6.6, 7.0, 8.4 and 8.7 respectively)." [] subset: 3_STAR synonym: "1-(10,11-Dihydro-8-(methylthio)dibenzo(b,f)thiepin-10-yl)-4-methylpiperazine maleate" RELATED [ChemIDplus] synonym: "1-methyl-4-[8-(methylsulfanyl)-10,11-dihydrodibenzo[b,f]thiepin-10-yl]piperazine (2Z)-but-2-enedioate" EXACT IUPAC_NAME [IUPAC] synonym: "1-methyl-4-[8-(methylsulfanyl)-10,11-dihydrodibenzo[b,f]thiepin-10-yl]piperazine maleate" RELATED [ChEBI] synonym: "1-methyl-4-[8-(methylsulfanyl)-10,11-dihydrodibenzo[b,f]thiepin-10-yl]piperazinediium (2Z)-but-2-enedioate" RELATED [IUPAC] synonym: "1-methyl-4-[8-(methylthio)-10,11-dihydrodibenzo[b,f]thiepin-10-yl]piperazine (2Z)-but-2-enedioate" RELATED [ChEBI] synonym: "1-methyl-4-[8-(methylthio)-10,11-dihydrodibenzo[b,f]thiepin-10-yl]piperazine maleate" RELATED [ChEBI] synonym: "1-methyl-4-[8-(methylthio)-10,11-dihydrodibenzo[b,f]thiepin-10-yl]piperazinediium (2Z)-but-2-enedioate" RELATED [ChEBI] synonym: "8-Methylthio-10-(4-methylpiperazino)-10,11-dihydrodibenzo(b,f)thiepin maleate" RELATED [ChemIDplus] synonym: "Metitepine maleate" RELATED [ChemIDplus] xref: CAS:19728-88-2 {source="ChemIDplus"} xref: ChEMBL:882802 xref: ChemIDplus:19728-88-2 xref: CiteXplore:18480175 xref: CiteXplore:2138403 xref: CiteXplore:2142373 xref: CiteXplore:554040 xref: CiteXplore:6448038 xref: PMID:18480175 {source="Europe PMC"} xref: PMID:2138403 {source="Europe PMC"} xref: PMID:2142373 {source="Europe PMC"} xref: PMID:554040 {source="Europe PMC"} xref: PMID:6448038 {source="Europe PMC"} xref: Reaxys:4119981 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C24H28N2O4S2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H24N2S2.C4H4O4/c1-21-9-11-22(12-10-21)18-13-15-5-3-4-6-19(15)24-20-8-7-16(23-2)14-17(18)20;5-3(6)1-2-4(7)8/h3-8,14,18H,9-13H2,1-2H3;1-2H,(H,5,6)(H,7,8)/b;2-1-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IWDBEHWZGDSFHR-BTJKTKAUSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "472.62000" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "472.14905" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)\\C=C/C(O)=O.CSc1ccc2Sc3ccccc3CC(N3CCN(C)CC3)c2c1" xsd:string [Term] id: CHEBI:64206 name: bromochloroacetic acid namespace: chebi_ontology def: "A monocarboxylic acid that is acetic acid in which one of the methyl hydrogens is replaced by bromine while a second is replaced by chlorine. A low-melting (27.5-31.5degreeC), hygroscopic crystalline solid, it can be formed during the disinfection (by chlorination) of water that contains bromide ions and organic matter, so can occur in drinking water as a byproduct of the disinfection process." [] subset: 3_STAR synonym: "BrCH(Cl)CO2H" RELATED [ChEBI] synonym: "BrCH(Cl)COOH" RELATED [ChEBI] synonym: "bromo(chloro)acetic acid" EXACT IUPAC_NAME [IUPAC] synonym: "bromochloroethanoic acid" RELATED [ChEBI] synonym: "chlorobromoacetic acid" RELATED [ChemIDplus] xref: CAS:5589-96-8 {source="KEGG COMPOUND"} xref: CAS:5589-96-8 {source="ChemIDplus"} xref: ChEMBL:587790 xref: ChemIDplus:5589-96-8 xref: CiteXplore:10910985 xref: CiteXplore:12075119 xref: CiteXplore:12830896 xref: CiteXplore:15686870 xref: CiteXplore:18075178 xref: CiteXplore:19340096 xref: CiteXplore:20839218 xref: KEGG COMPOUND:5589-96-8 xref: KEGG COMPOUND:C19212 xref: KEGG:C19212 xref: MeSH:C099813 xref: PMID:10910985 {source="Europe PMC"} xref: PMID:12075119 {source="Europe PMC"} xref: PMID:12830896 {source="Europe PMC"} xref: PMID:15686870 {source="Europe PMC"} xref: PMID:18075178 {source="Europe PMC"} xref: PMID:19340096 {source="Europe PMC"} xref: PMID:20839218 {source="Europe PMC"} xref: Reaxys:1720556 {source="Reaxys"} is_a: EFO:0004416 ! acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C2H2BrClO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C2H2BrClO2/c3-1(4)2(5)6/h1H,(H,5,6)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GEHJBWKLJVFKPS-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "173.39300" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "171.89267" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)C(Cl)Br" xsd:string [Term] id: CHEBI:64207 name: spiramide namespace: chebi_ontology def: "An azaspiro compound that consists of 1,3,8-triazaspiro[4.5]decan-4-one having a phenyl group attached to N-1 and a 3-(4-fluorophenoxy)propyl attached to N-8. Selective 5-HT antagonist, which binds to 5-HT2 sites as potently as spiperone but has lower affinity for 5-HT2C receptors. Also a high affinity D2 receptor antagonist (Ki = 3 nM). Lacks the disruptive effect of spiperone on animal behaviour." [] subset: 3_STAR synonym: "8-[3-(4-fluorophenoxy)propyl]-1-phenyl-1,3,8-triazaspiro[4.5]decan-4-one" EXACT IUPAC_NAME [IUPAC] synonym: "AMI-193" RELATED [ChEBI] synonym: "espiramida" RELATED INN [ChemIDplus] synonym: "spiramide" RELATED INN [WHO_MedNet] synonym: "spiramide" RELATED INN [ChemIDplus] synonym: "spiramidum" RELATED INN [ChemIDplus] xref: CAS:510-74-7 {source="ChemIDplus"} xref: ChEMBL:229410 xref: ChemIDplus:510-74-7 xref: CiteXplore:11124389 xref: CiteXplore:17965538 xref: CiteXplore:19875674 xref: CiteXplore:4474849 xref: CiteXplore:4776656 xref: LINCS:LSM-4124 xref: MeSH:C003338 xref: NCIt:C66559 xref: Patent:US3238216 xref: PMID:11124389 {source="Europe PMC"} xref: PMID:17965538 {source="Europe PMC"} xref: PMID:19875674 {source="Europe PMC"} xref: PMID:4474849 {source="Europe PMC"} xref: PMID:4776656 {source="Europe PMC"} xref: Reaxys:631679 {source="Reaxys"} xref: Wikipedia:Spiramide is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:48561 ! dopaminergic antagonist property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H26FN3O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C22H26FN3O2/c23-18-7-9-20(10-8-18)28-16-4-13-25-14-11-22(12-15-25)21(27)24-17-26(22)19-5-2-1-3-6-19/h1-3,5-10H,4,11-17H2,(H,24,27)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FJUKDAZEABGEIH-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "383.45910" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "383.20091" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Fc1ccc(OCCCN2CCC3(CC2)N(CNC3=O)c2ccccc2)cc1" xsd:string [Term] id: CHEBI:64210 name: 4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino}benzoic acid namespace: chebi_ontology def: "An amidobenzoic acid obtained by formal condensation of the carboxy group of (5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)benzoic acid with the anilino group of 4-aminobenzoic acid. A selective RARalpha agonist." [] subset: 3_STAR synonym: "4-{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino}benzoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "Am 580" RELATED [ChemIDplus] synonym: "AM-580" RELATED [ChemIDplus] synonym: "AM580" RELATED [ChEBI] synonym: "CD 336" RELATED [ChemIDplus] synonym: "CD-336" RELATED [ChemIDplus] xref: Beilstein:3565084 {source="ChemIDplus"} xref: CAS:102121-60-8 {source="KEGG COMPOUND"} xref: CAS:102121-60-8 {source="ChemIDplus"} xref: ChEMBL:209312 xref: ChemIDplus:102121-60-8 xref: ChemIDplus:3565084 xref: CiteXplore:18271925 xref: CiteXplore:18416830 xref: CiteXplore:19700416 xref: CiteXplore:19790202 xref: CiteXplore:20147703 xref: CiteXplore:20453882 xref: CiteXplore:21150871 xref: CiteXplore:21310893 xref: CiteXplore:21715427 xref: CiteXplore:22258322 xref: CiteXplore:22353356 xref: KEGG:C15619 xref: LINCS:LSM-2132 xref: MeSH:C068073 xref: PDB:3KMR xref: PMID:18271925 {source="Europe PMC"} xref: PMID:18416830 {source="Europe PMC"} xref: PMID:19700416 {source="Europe PMC"} xref: PMID:19790202 {source="Europe PMC"} xref: PMID:20147703 {source="Europe PMC"} xref: PMID:20453882 {source="Europe PMC"} xref: PMID:21150871 {source="Europe PMC"} xref: PMID:21310893 {source="Europe PMC"} xref: PMID:21715427 {source="Europe PMC"} xref: PMID:22258322 {source="Europe PMC"} xref: PMID:22353356 {source="Europe PMC"} xref: Reaxys:3565084 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:35703 ! xenobiotic property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H25NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C22H25NO3/c1-21(2)11-12-22(3,4)18-13-15(7-10-17(18)21)19(24)23-16-8-5-14(6-9-16)20(25)26/h5-10,13H,11-12H2,1-4H3,(H,23,24)(H,25,26)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SZWKGOZKRMMLAJ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "351.43880" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "351.18344" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC1(C)CCC(C)(C)c2cc(ccc12)C(=O)Nc1ccc(cc1)C(O)=O" xsd:string [Term] id: CHEBI:64211 name: 8-Br-cAMP namespace: chebi_ontology alt_id: CHEBI:145729 alt_id: CHEBI:84608 def: "A 3',5'-cyclic purine nucleotide that is 3',5'-cyclic AMP bearing an additional bromo substituent at position 8 on the adenine ring. An activator of cyclic AMP-dependent protein kinase, but resistant to degradation by cyclic AMP phosphodiesterase." [] subset: 3_STAR synonym: "(4aR,6R,7R,7aS)-6-(6-amino-8-bromo-9H-purin-9-yl)tetrahydro-4H-furo[3,2-d][1,3,2]dioxaphosphinine-2,7-diol 2-oxide" RELATED [IUPAC] synonym: "8-bromo cyclic adenosine monophosphate" RELATED [ChemIDplus] synonym: "8-Bromo-cAMP" RELATED [ChEBI] synonym: "8-bromo-cAMP" RELATED [ChEBI] synonym: "8-bromo-cyclic 3',5'-AMP" RELATED [ChemIDplus] synonym: "8-bromo-cyclic AMP" RELATED [ChemIDplus] synonym: "8-bromoadenosine 3',5'-(hydrogen phosphate)" EXACT IUPAC_NAME [IUPAC] synonym: "8-bromoadenosine 3',5'-cyclic monophosphate" RELATED [ChemIDplus] synonym: "8-bromoadenosine 3',5'-monophosphate" RELATED [ChemIDplus] synonym: "8-bromoadenosine cyclic 3',5'-phosphate" RELATED [ChemIDplus] synonym: "BCAMP" RELATED [ChemIDplus] synonym: "cyclic 8-bromoadenosine 3',5'-monophosphate" RELATED [ChemIDplus] xref: CAS:23583-48-4 {source="ChemIDplus"} xref: PMID:10543424 {source="Europe PMC"} xref: PMID:10708595 {source="Europe PMC"} xref: PMID:11906532 {source="Europe PMC"} xref: PMID:12216111 {source="Europe PMC"} xref: PMID:1320750 {source="Europe PMC"} xref: PMID:1367038 {source="Europe PMC"} xref: PMID:15121638 {source="Europe PMC"} xref: PMID:15169861 {source="Europe PMC"} xref: PMID:15225757 {source="Europe PMC"} xref: PMID:15717604 {source="Europe PMC"} xref: PMID:16134057 {source="Europe PMC"} xref: PMID:16214133 {source="Europe PMC"} xref: PMID:16425431 {source="Europe PMC"} xref: PMID:17140607 {source="Europe PMC"} xref: PMID:18239846 {source="Europe PMC"} xref: PMID:1849229 {source="Europe PMC"} xref: PMID:19121393 {source="Europe PMC"} xref: PMID:1982459 {source="Europe PMC"} xref: PMID:19833172 {source="Europe PMC"} xref: PMID:21120637 {source="Europe PMC"} xref: PMID:21284604 {source="Europe PMC"} xref: PMID:2240104 {source="Europe PMC"} xref: PMID:2413029 {source="Europe PMC"} xref: PMID:24493289 {source="Europe PMC"} xref: PMID:24518258 {source="Europe PMC"} xref: PMID:24605759 {source="SUBMITTER"} xref: PMID:2478258 {source="Europe PMC"} xref: PMID:2560108 {source="Europe PMC"} xref: PMID:2581952 {source="Europe PMC"} xref: PMID:2744214 {source="Europe PMC"} xref: PMID:29887570 {source="Europe PMC"} xref: PMID:29997437 {source="Europe PMC"} xref: PMID:3032362 {source="Europe PMC"} xref: PMID:30374127 {source="Europe PMC"} xref: PMID:3094467 {source="Europe PMC"} xref: PMID:6128338 {source="Europe PMC"} xref: PMID:6196214 {source="Europe PMC"} xref: PMID:6327153 {source="Europe PMC"} xref: PMID:6367831 {source="Europe PMC"} xref: PMID:7996791 {source="Europe PMC"} xref: PMID:8095554 {source="Europe PMC"} xref: PMID:8107042 {source="Europe PMC"} xref: PMID:8394699 {source="Europe PMC"} xref: PMID:8699249 {source="Europe PMC"} xref: PMID:8730238 {source="Europe PMC"} xref: PMID:8841091 {source="Europe PMC"} xref: PMID:9042334 {source="Europe PMC"} xref: PMID:9327456 {source="Europe PMC"} xref: PMID:9713380 {source="Europe PMC"} xref: Reaxys:591930 {source="Reaxys"} xref: Wikipedia:8-Bromoadenosine_3'\,5'-cyclic_monophosphate is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:26020 ! phosphate property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H11BrN5O6P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H11BrN5O6P/c11-10-15-4-7(12)13-2-14-8(4)16(10)9-5(17)6-3(21-9)1-20-23(18,19)22-6/h2-3,5-6,9,17H,1H2,(H,18,19)(H2,12,13,14)/t3-,5-,6-,9-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DVKQVRZMKBDMDH-UUOKFMHZSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "408.10200" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "406.96303" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Nc1ncnc2n([C@@H]3O[C@@H]4COP(O)(=O)O[C@H]4[C@H]3O)c(Br)nc12" xsd:string [Term] id: CHEBI:64212 name: sulindac sulfone namespace: chebi_ontology def: "A sulfone metabolite of sulindac that inhibits cell growth by inducing apoptosis independently of cyclooxygenase inhibition. It inhibits the development and induces regression of premalignant adenomatous polyps. Lipoxygenase and Cox-2 inhibitor." [] subset: 3_STAR synonym: "5-Fluoro-2-methyl-1-((Z)-p-(methylsulfonyl)benzylidene)indene-3-acetic acid" RELATED [ChEBI] synonym: "cis-5-Fluoro-2-methyl-1-(p-methylsulfonylbenzylidenyl)indene-3-acetic acid" RELATED [ChEBI] synonym: "exisulind" RELATED INN [ChemIDplus] synonym: "{(1Z)-5-fluoro-2-methyl-1-[4-(methylsulfonyl)benzylidene]-1H-inden-3-yl}acetic acid" EXACT IUPAC_NAME [IUPAC] xref: CAS:59973-80-7 {source="ChemIDplus"} xref: ChEMBL:551936 xref: ChemIDplus:59973-80-7 xref: CiteXplore:17016604 xref: CiteXplore:20332437 xref: CiteXplore:20374023 xref: CiteXplore:21515355 xref: CiteXplore:21735687 xref: CiteXplore:22364235 xref: Drug_Central:3219 {source="DrugCentral"} xref: MeSH:C025463 xref: NCIt:C1239 xref: Patent:EP1336602 xref: Patent:US5696159 xref: Patent:US5776962 xref: PMID:17016604 {source="Europe PMC"} xref: PMID:20332437 {source="Europe PMC"} xref: PMID:20374023 {source="Europe PMC"} xref: PMID:21515355 {source="Europe PMC"} xref: PMID:21735687 {source="Europe PMC"} xref: PMID:22364235 {source="Europe PMC"} xref: Reaxys:7887099 {source="Reaxys"} xref: Wikipedia:Exisulind is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H17FO4S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H17FO4S/c1-12-17(9-13-3-6-15(7-4-13)26(2,24)25)16-8-5-14(21)10-19(16)18(12)11-20(22)23/h3-10H,11H2,1-2H3,(H,22,23)/b17-9-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "MVGSNCBCUWPVDA-MFOYZWKCSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "372.41000" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "372.08316" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC1=C(CC(O)=O)c2cc(F)ccc2C\\1=C/c1ccc(cc1)S(C)(=O)=O" xsd:string [Term] id: CHEBI:64213 name: cantharidin namespace: chebi_ontology def: "A monoterpenoid with an epoxy-bridged cyclic dicarboxylic anhydride structure secreted by many species of blister beetle, and most notably by the Spanish fly, Lytta vesicatoria. Natural toxin inhibitor of protein phosphatases 1 and 2A." [] subset: 3_STAR synonym: "(3aR,4S,7R,7aS)-3a,7a-dimethylhexahydro-4,7-epoxy-2-benzofuran-1,3-dione" EXACT IUPAC_NAME [IUPAC] synonym: "1,2-Dimethyl-3,6-epoxyperhydrophthalic anhydride" RELATED [ChemIDplus] synonym: "Cantharidine" RELATED [ChemIDplus] synonym: "Cantharone" RELATED [ChemIDplus] synonym: "exo-1,2-cis-Dimethyl-3,6-epoxyhexahydrophthalic anhydride" RELATED [ChemIDplus] synonym: "Kantharidin" RELATED [ChemIDplus] xref: Beilstein:85302 {source="ChemIDplus"} xref: CAS:56-25-7 {source="ChemIDplus"} xref: CAS:56-25-7 {source="KEGG COMPOUND"} xref: ChEMBL:169448 xref: ChemIDplus:56-25-7 xref: ChemIDplus:85302 xref: CiteXplore:20594813 xref: CiteXplore:21595743 xref: CiteXplore:21668865 xref: CiteXplore:21907641 xref: CiteXplore:21930197 xref: CiteXplore:22001622 xref: CiteXplore:22233030 xref: CiteXplore:22351815 xref: CiteXplore:22380659 xref: CiteXplore:22402807 xref: KEGG:C16778 xref: KNApSAcK:C00010979 xref: LINCS:LSM-42705 xref: MeSH:D002193 xref: PMID:20594813 {source="Europe PMC"} xref: PMID:21595743 {source="Europe PMC"} xref: PMID:21668865 {source="Europe PMC"} xref: PMID:21907641 {source="Europe PMC"} xref: PMID:21930197 {source="Europe PMC"} xref: PMID:22001622 {source="Europe PMC"} xref: PMID:22233030 {source="Europe PMC"} xref: PMID:22351815 {source="Europe PMC"} xref: PMID:22380659 {source="Europe PMC"} xref: PMID:22402807 {source="Europe PMC"} xref: Reaxys:85302 {source="Reaxys"} xref: SNOMEDCT:437975006 xref: SNOMEDCT:86218002 xref: Wikipedia:Cantharidin is_a: CHEBI:24913 ! isoprenoid relationship: has_role CHEBI:33286 ! agrochemical property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H12O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H12O4/c1-9-5-3-4-6(13-5)10(9,2)8(12)14-7(9)11/h5-6H,3-4H2,1-2H3/t5-,6+,9+,10-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DHZBEENLJMYSHQ-XCVPVQRUSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "196.19990" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "196.07356" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[C@]12[C@@H]3CC[C@@H](O3)[C@@]1(C)C(=O)OC2=O" xsd:string [Term] id: CHEBI:64215 name: 2,3-dimethoxynaphthalene-1,4-dione namespace: chebi_ontology def: "A naphthoquinone that is 1,4-naphthoquinone bearing two methoxy substituents at positions 2 and 3. Redox-cycling agent that induces intracellular superoxide anion formation and, depending on the concentration, induces cell proliferation, apoptosis or necrosis. Used to study the role of ROS in cell toxicity, apoptosis, and necrosis." [] subset: 3_STAR synonym: "2,3-dimethoxy-1,4-naphthalenedione" RELATED [ChEBI] synonym: "2,3-dimethoxy-1,4-naphthoquinone" EXACT IUPAC_NAME [IUPAC] synonym: "DMNQ" RELATED [ChemIDplus] synonym: "NSC 69355" RELATED [ChemIDplus] xref: CAS:6956-96-3 {source="ChemIDplus"} xref: Patent:US4628062 xref: Patent:US5314914 xref: PMID:19338340 {source="Europe PMC"} xref: PMID:20803752 {source="Europe PMC"} xref: PMID:8103030 {source="Europe PMC"} xref: PMID:8393647 {source="Europe PMC"} xref: Reaxys:2049895 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12H10O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C12H10O4/c1-15-11-9(13)7-5-3-4-6-8(7)10(14)12(11)16-2/h3-6H,1-2H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ZEGDFCCYTFPECB-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "218.20540" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "218.05791" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "COC1=C(OC)C(=O)c2ccccc2C1=O" xsd:string [Term] id: CHEBI:64216 name: metergoline namespace: chebi_ontology def: "An ergoline alkaloid that is the N-benzyloxycarbonyl derivative of lysergamine. A 5-HT2 antagonist. Also 5-HT1 antagonist and 5-HT1D ligand. Has moderate affinity for 5-HT6 and high affinity for 5-HT7." [] subset: 3_STAR synonym: "(((8-beta)-1,6-Dimethylergolin-8-yl)methyl)carbamic acid benzyl ester" RELATED [ChemIDplus] synonym: "(((8-beta)-1,6-Dimethylergolin-8-yl)methyl)carbamic acid phenylmethyl ester" RELATED [ChemIDplus] synonym: "(+)-N-(Carboxy)-1-methyl-9,10-dihydrolysergamine benzyl ester" RELATED [ChemIDplus] synonym: "1,6-Dimethyl-8-beta-carbobenzyloxaminomethyl-10-alpha-ergoline" RELATED [ChemIDplus] synonym: "1-Methyl-8-beta-carbobenzyloxyaminomethyl-10-alpha-ergoline" RELATED [ChemIDplus] synonym: "1-Methyl-N-carbobenzyloxydihydro-D-lysergamin" RELATED [ChemIDplus] synonym: "benzyl {[(8alpha)-1,6-dimethylergolin-8-yl]methyl}carbamate" EXACT IUPAC_NAME [IUPAC] synonym: "D-8-beta-((Carbobenzoxyamino)methyl)-1,6-dimethyl-10-alpha-ergoline" RELATED [ChemIDplus] synonym: "D-8-beta-((Carboxyamino)methyl)-1,6-dimethylergoline benzyl ester" RELATED [ChemIDplus] synonym: "Metergolin" RELATED [ChemIDplus] synonym: "metergolina" RELATED INN [ChemIDplus] synonym: "metergoline" RELATED INN [KEGG_DRUG] synonym: "metergolinum" RELATED INN [ChemIDplus] xref: CAS:17692-51-2 {source="KEGG DRUG"} xref: CAS:17692-51-2 {source="NIST Chemistry WebBook"} xref: CAS:17692-51-2 {source="ChemIDplus"} xref: ChEMBL:121938 xref: ChemIDplus:17692-51-2 xref: CiteXplore:18996971 xref: CiteXplore:19484723 xref: CiteXplore:19509219 xref: CiteXplore:19538518 xref: CiteXplore:19539656 xref: CiteXplore:19632276 xref: CiteXplore:19945477 xref: CiteXplore:20377624 xref: CiteXplore:20451398 xref: CiteXplore:20845263 xref: CiteXplore:21354537 xref: CiteXplore:21475142 xref: CiteXplore:21600959 xref: CiteXplore:21880033 xref: CiteXplore:22218419 xref: Drug_Central:1723 {source="DrugCentral"} xref: KEGG DRUG:17692-51-2 xref: KEGG DRUG:D07218 xref: KEGG:D07218 xref: LINCS:LSM-3265 xref: MeSH:D008711 xref: NCIt:C91039 xref: NIST Chemistry WebBook:17692-51-2 xref: PMID:18996971 {source="Europe PMC"} xref: PMID:19484723 {source="Europe PMC"} xref: PMID:19509219 {source="Europe PMC"} xref: PMID:19538518 {source="Europe PMC"} xref: PMID:19539656 {source="Europe PMC"} xref: PMID:19632276 {source="Europe PMC"} xref: PMID:19945477 {source="Europe PMC"} xref: PMID:20377624 {source="Europe PMC"} xref: PMID:20451398 {source="Europe PMC"} xref: PMID:20845263 {source="Europe PMC"} xref: PMID:21354537 {source="Europe PMC"} xref: PMID:21475142 {source="Europe PMC"} xref: PMID:21600959 {source="Europe PMC"} xref: PMID:21880033 {source="Europe PMC"} xref: PMID:22218419 {source="Europe PMC"} xref: PMID:24134630 {source="Europe PMC"} xref: Reaxys:5362415 {source="Reaxys"} xref: Wikipedia:Metergoline is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:48278 ! serotonergic drug relationship: has_role CHEBI:48279 ! serotonergic antagonist relationship: has_role CHEBI:51065 ! dopamine agonist property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C25H29N3O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C25H29N3O2/c1-27-14-18(13-26-25(29)30-16-17-7-4-3-5-8-17)11-21-20-9-6-10-22-24(20)19(12-23(21)27)15-28(22)2/h3-10,15,18,21,23H,11-14,16H2,1-2H3,(H,26,29)/t18-,21+,23+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WZHJKEUHNJHDLS-QTGUNEKASA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "403.51670" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "403.22598" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12Cc3cn(C)c4cccc(c34)[C@@]1([H])C[C@@H](CNC(=O)OCc1ccccc1)CN2C" xsd:string [Term] id: CHEBI:64227 name: ciglitazone namespace: chebi_ontology def: "An aromatic ether that consists of 1,3-thiazolidine-2,4-dione with position 5 substituted by a 4-[(1-methylcyclohexyl)methoxy]benzyl group. A selective PPARgamma agonist." [] subset: 3_STAR synonym: "(+-)-5-(p-((1-Methylcyclohexyl)methoxy)benzyl)-2,4-thiazolidinedione" RELATED [ChemIDplus] synonym: "5-{4-[(1-methylcyclohexyl)methoxy]benzyl}-1,3-thiazolidine-2,4-dione" EXACT IUPAC_NAME [IUPAC] synonym: "ciglitazona" RELATED INN [ChemIDplus] synonym: "ciglitazone" RELATED INN [ChemIDplus] synonym: "ciglitazonum" RELATED INN [ChemIDplus] xref: CAS:74772-77-3 {source="ChemIDplus"} xref: ChEMBL:101529 xref: ChemIDplus:74772-77-3 xref: CiteXplore:20596077 xref: CiteXplore:21067863 xref: CiteXplore:21344384 xref: CiteXplore:21354099 xref: CiteXplore:21485077 xref: CiteXplore:21508362 xref: CiteXplore:21681689 xref: CiteXplore:21882481 xref: CiteXplore:22007221 xref: CiteXplore:22131991 xref: CiteXplore:22174792 xref: CiteXplore:22177955 xref: CiteXplore:22192353 xref: CiteXplore:22193206 xref: CiteXplore:22268140 xref: KEGG DRUG:D03493 xref: KEGG:D03493 xref: LINCS:LSM-1911 xref: MeSH:C039671 xref: NCIt:C72726 xref: PMID:20596077 {source="Europe PMC"} xref: PMID:21067863 {source="Europe PMC"} xref: PMID:21344384 {source="Europe PMC"} xref: PMID:21354099 {source="Europe PMC"} xref: PMID:21485077 {source="Europe PMC"} xref: PMID:21508362 {source="Europe PMC"} xref: PMID:21681689 {source="Europe PMC"} xref: PMID:21882481 {source="Europe PMC"} xref: PMID:22007221 {source="Europe PMC"} xref: PMID:22131991 {source="Europe PMC"} xref: PMID:22174792 {source="Europe PMC"} xref: PMID:22177955 {source="Europe PMC"} xref: PMID:22192353 {source="Europe PMC"} xref: PMID:22193206 {source="Europe PMC"} xref: PMID:22268140 {source="Europe PMC"} xref: Reaxys:3623680 {source="Reaxys"} xref: Wikipedia:Ciglitazone is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:35610 ! antineoplastic agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H23NO3S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H23NO3S/c1-18(9-3-2-4-10-18)12-22-14-7-5-13(6-8-14)11-15-16(20)19-17(21)23-15/h5-8,15H,2-4,9-12H2,1H3,(H,19,20,21)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YZFWTZACSRHJQD-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "333.44500" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "333.13986" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC1(CCCCC1)COc1ccc(CC2SC(=O)NC2=O)cc1" xsd:string [Term] id: CHEBI:6437 name: levetiracetam namespace: chebi_ontology def: "A pyrrolidinone and carboxamide that is N-methylpyrrolidin-2-one in which one of the methyl hydrogens is replaced by an aminocarbonyl group, while another is replaced by an ethyl group (the S enantiomer). An anticonvulsant, it is used for the treatment of epilepsy in both human and veterinary medicine." [] subset: 3_STAR synonym: "(-)-(S)-alpha-ethyl-2-oxo-1-pyrrolidineacetamide" RELATED [ChemIDplus] synonym: "(2S)-2-(2-oxopyrrolidin-1-yl)butanamide" EXACT IUPAC_NAME [IUPAC] synonym: "(S)-(-)-alpha-ethyl-2-oxo-1-pyrrolidineacetamide" RELATED [ChEBI] synonym: "(S)-alpha-ethyl-2-oxo-1-pyrrolidineacetamide" RELATED [ChemIDplus] synonym: "Keppra" RELATED BRAND_NAME [DrugBank] synonym: "Levetiracetam" EXACT [KEGG_COMPOUND] synonym: "levetiracetam" RELATED INN [ChemIDplus] synonym: "levetiracetamum" RELATED INN [ChemIDplus] synonym: "UCB-L 059" RELATED [ChemIDplus] xref: CAS:102767-28-2 {source="ChemIDplus"} xref: CAS:102767-28-2 {source="KEGG COMPOUND"} xref: ChEMBL:352155 xref: ChemIDplus:102767-28-2 xref: CiteXplore:22119754 xref: CiteXplore:22321334 xref: Drug_Central:1563 {source="DrugCentral"} xref: DrugBank:DB01202 xref: KEGG COMPOUND:102767-28-2 xref: KEGG COMPOUND:C07841 xref: KEGG DRUG:D00709 xref: KEGG:C07841 xref: KEGG:D00709 xref: LINCS:LSM-5603 xref: NCIt:C47581 xref: PMID:22119754 {source="Europe PMC"} xref: PMID:22321334 {source="Europe PMC"} xref: Reaxys:8407472 {source="Reaxys"} xref: SNOMEDCT:116076009 xref: SNOMEDCT:387000003 xref: VSDB:2979 xref: Wikipedia:Levetiracetam is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H14N2O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H14N2O2/c1-2-6(8(9)12)10-5-3-4-7(10)11/h6H,2-5H2,1H3,(H2,9,12)/t6-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HPHUVLMMVZITSG-LURJTMIESA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "170.20900" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "170.10553" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC[C@H](N1CCCC1=O)C(N)=O" xsd:string [Term] id: CHEBI:64390 name: N-hexanoylglycine namespace: chebi_ontology def: "An N-acylglycine in which the acyl group is specified as hexanoyl." [] subset: 3_STAR synonym: "Caproylglycine" RELATED [HMDB] synonym: "Hexanoylglycine" RELATED [ChemIDplus] synonym: "N-(1-oxohexyl)glycine" RELATED [HMDB] synonym: "N-caproylglycine" RELATED [ChemIDplus] synonym: "N-hexanoylglycine" EXACT IUPAC_NAME [IUPAC] synonym: "n-Hexanoylglycine" EXACT [HMDB] xref: CAS:24003-67-6 {source="ChemIDplus"} xref: HMDB:HMDB0000701 xref: Patent:EP226304 xref: Patent:EP415598 xref: Patent:EP517371 xref: Patent:EP572167 xref: Patent:EP580409 xref: Patent:US4757066 xref: Patent:US5112863 xref: Patent:US5238917 xref: Patent:US5559092 xref: PMID:17190852 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: Reaxys:1773416 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H15NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H15NO3/c1-2-3-4-5-7(10)9-6-8(11)12/h2-6H2,1H3,(H,9,10)(H,11,12)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UPCKIPHSXMXJOX-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "173.20960" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "173.10519" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCC(=O)NCC(O)=O" xsd:string [Term] id: CHEBI:64395 name: 1-arachidonoyl-sn-glycero-3-phosphoethanolamine namespace: chebi_ontology def: "A 1-acyl-sn-glycero-3-phosphoethanolamine in which the acyl group is specified as arachidonoyl." [] subset: 3_STAR synonym: "(2R)-3-{[(2-aminoethoxy)(hydroxy)phosphoryl]oxy}-2-hydroxypropyl (5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoate" EXACT IUPAC_NAME [IUPAC] synonym: "(5Z,8Z,11Z,14Z-eicosatetraenoyl)-lysophosphatidylethanolamine" RELATED [HMDB] synonym: "1-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphoethanolamine" RELATED [LIPID_MAPS] synonym: "1-arachidonyl-sn-glycero-3-phosphoethanolamine" RELATED [ChEBI] synonym: "1-O-arachidonoyl-sn-glycero-3-phosphoethanolamine" RELATED [ChEBI] synonym: "1-O-arachidonyl-sn-glycero-3-phosphoethanolamine" RELATED [ChEBI] synonym: "LPE(20:4)" RELATED [HMDB] synonym: "LPE(20:4/0:0)" RELATED [HMDB] synonym: "LPE(20:4omega6/0:0)" RELATED [HMDB] synonym: "LysoPE(20:4)" RELATED [HMDB] synonym: "LysoPE(20:4/0:0)" RELATED [HMDB] synonym: "LysoPE(20:4omega6/0:0)" RELATED [HMDB] synonym: "Lysophosphatidylethanolamine(20:4)" RELATED [HMDB] synonym: "Lysophosphatidylethanolamine(20:4/0:0)" RELATED [HMDB] synonym: "PE(20:4(5Z,8Z,11Z,14Z)/0:0)" RELATED [LIPID_MAPS] synonym: "PE(20:4/0:0)" RELATED [LIPID_MAPS] xref: HMDB:HMDB0011517 xref: LIPID_MAPS_instance:LMGP02050009 {source="LIPID MAPS"} is_a: CHEBI:64569 ! lysophosphatidylethanolamine 20:4 property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C25H44NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C25H44NO7P/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-18-19-25(28)31-22-24(27)23-33-34(29,30)32-21-20-26/h6-7,9-10,12-13,15-16,24,27H,2-5,8,11,14,17-23,26H2,1H3,(H,29,30)/b7-6-,10-9-,13-12-,16-15-/t24-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ROPRRXYVXLDXQO-XSQXPFHXSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "501.59310" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "501.28554" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCC\\C=C/C\\C=C/C\\C=C/C\\C=C/CCCC(=O)OC[C@@H](O)COP(O)(=O)OCCN" xsd:string [Term] id: CHEBI:64423 name: phosphatidylcholine 34:4 namespace: chebi_ontology def: "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 34 carbons in total with 4 double bonds." [] subset: 3_STAR synonym: "GPCho(34:4)" RELATED [ChEBI] synonym: "PC(34:4)" RELATED [ChEBI] synonym: "phosphatidylcholine(34:4)" RELATED [ChEBI] xref: PMID:19347970 {source="Europe PMC"} is_a: CHEBI:64482 ! phosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C42H76NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "753.530884" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "753.53086" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](COC([*])=O)(COP([O-])(=O)OCC[N+](C)(C)C)OC([*])=O" xsd:string [Term] id: CHEBI:64424 name: phosphatidylcholine 34:3 namespace: chebi_ontology def: "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 34 carbons in total with 3 double bonds." [] subset: 3_STAR synonym: "GPCho(34:3)" RELATED [HMDB] synonym: "PC 34:3" RELATED [ChEBI] synonym: "PC(34:3)" RELATED [ChEBI] synonym: "phosphatidylcholine(34:3)" RELATED [ChEBI] xref: PMID:19347970 {source="Europe PMC"} xref: PMID:23475189 {source="Europe PMC"} is_a: CHEBI:64482 ! phosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C42H78NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "756.04440" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "755.54651" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](COC([*])=O)(COP([O-])(=O)OCC[N+](C)(C)C)OC([*])=O" xsd:string [Term] id: CHEBI:64431 name: phosphatidylcholine 40:6 namespace: chebi_ontology def: "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the two acyl groups contain forty carbons in total with six double bonds." [] subset: 3_STAR synonym: "GPCho(40:6)" RELATED [ChEBI] synonym: "PC 40:6" RELATED [ChEBI] synonym: "PC(40:6)" RELATED [ChEBI] xref: PMID:19347970 {source="Europe PMC"} is_a: CHEBI:64482 ! phosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C48H84NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "834.158" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "833.59346" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](COC(C)=O)(COP([O-])(=O)OCC[N+](C)(C)C)OC(C)=O" xsd:string [Term] id: CHEBI:64433 name: phosphatidylcholine 36:2 namespace: chebi_ontology def: "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 36 carbons in total and 2 double bonds." [] subset: 3_STAR synonym: "GPCho(36:2)" RELATED [ChEBI] synonym: "PC 36:2" RELATED [ChEBI] synonym: "PC(36:2)" RELATED [ChEBI] xref: PMID:19347970 {source="Europe PMC"} is_a: CHEBI:64482 ! phosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C44H84NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "786.11340" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "785.59346" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](COC(C)=O)(COP([O-])(=O)OCC[N+](C)(C)C)OC(C)=O" xsd:string [Term] id: CHEBI:64445 name: phosphatidylcholine O-38:5 namespace: chebi_ontology def: "A glycerophosphocholine that is an alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 38 carbons and 5 double bonds." [] subset: 3_STAR synonym: "GPCho(O-38:5)" RELATED [ChEBI] synonym: "PC O-38:5" RELATED [ChEBI] synonym: "PC(O-38:5)" RELATED [ChEBI] synonym: "phosphatidylcholine(O-38:5)" RELATED [ChEBI] xref: PMID:19347970 {source="Europe PMC"} is_a: CHEBI:36313 ! glycerophosphocholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C46H84NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "794.137" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "793.59854" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C@](CO*)(O*)([H])COP(OCC[N+](C)(C)C)(=O)[O-]" xsd:string [Term] id: CHEBI:64446 name: phosphatidylcholine 38:3 namespace: chebi_ontology def: "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 38 carbons with 3 double bonds." [] subset: 3_STAR synonym: "GPCho(38:3)" RELATED [ChEBI] synonym: "PC 38:3" RELATED [ChEBI] synonym: "PC(38:3)" RELATED [ChEBI] xref: PMID:19347970 {source="Europe PMC"} is_a: CHEBI:64482 ! phosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C46H86NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "812.152" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "811.60911" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](COC(C)=O)(COP([O-])(=O)OCC[N+](C)(C)C)OC(C)=O" xsd:string [Term] id: CHEBI:64480 name: phosphatidylcholine O-38:4 namespace: chebi_ontology def: "A glycerophosphocholine that is an alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 38 carbons and 4 double bonds." [] subset: 3_STAR synonym: "GPCho(O-38:4)" RELATED [ChEBI] synonym: "PC O-38:4" RELATED [ChEBI] synonym: "PC(O-38:4)" RELATED [ChEBI] synonym: "Phosphatidylcholine(O-38:4)" RELATED [ChEBI] xref: PMID:19347970 {source="Europe PMC"} is_a: CHEBI:36313 ! glycerophosphocholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C46H86NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "796.153" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "795.61419" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C@](CO*)(O*)([H])COP(OCC[N+](C)(C)C)(=O)[O-]" xsd:string [Term] id: CHEBI:64481 name: lysophosphatidylcholine 20:3 namespace: chebi_ontology def: "A lysophosphatidylcholine in which the acyl group contains 20 carbons with 3 double bonds. If R1 is an acyl group and R2 is a hydrogen then the molecule is a 1-acyl-sn-glycero-3-phosphocholine. If R1 is a hydrogen and R2 is an acyl group then the molecule is a 2-acyl-sn-glycero-3-phosphocholine." [] subset: 3_STAR synonym: "LPC 20:3" RELATED [ChEBI] synonym: "LPC(20:3)" RELATED [ChEBI] synonym: "LyPC(20:3)" RELATED [ChEBI] synonym: "LysoPC(20:3)" RELATED [ChEBI] synonym: "Lysophosphatidylcholine(20:3)" RELATED [ChEBI] synonym: "PC 20:3_0.0" RELATED [ChEBI] xref: PMID:19347970 {source="Europe PMC"} is_a: CHEBI:60479 ! lysophosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C28H52NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "545.690" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "545.34814" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](COC(C)=O)(COP([O-])(=O)OCC[N+](C)(C)C)OC(C)=O" xsd:string [Term] id: CHEBI:64482 name: phosphatidylcholine namespace: chebi_ontology def: "A glycerophosphocholine that is glycero-3-phosphocholine bearing two acyl substituents at positions 1 and 2." [] subset: 3_STAR synonym: "1,2-diacyl-glycero-3-phosphocholine" RELATED [UniProt] synonym: "2,3-bis(acyloxy)propyl 2-(trimethylammonio)ethyl phosphate" EXACT IUPAC_NAME [IUPAC] synonym: "a phosphatidylcholine (0)" RELATED [ChEBI] xref: PMID:2474544 {source="Europe PMC"} is_a: CHEBI:36313 ! glycerophosphocholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H18NO8PR2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "311.226" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "311.07700" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[N+](C)(C)CCOP([O-])(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:64483 name: lysophosphatidylcholine 14:0 namespace: chebi_ontology def: "A lysophosphatidylcholine in which the remaining acyl group is specified as tetradecanoyl (myristoyl). If R1 is the acyl group and R2 is a hydrogen then the molecule is a 1-acyl-sn-glycero-3-phosphocholine. If R1 is a hydrogen and R2 is the acyl group then the molecule is a 2-acyl-sn-glycero-3-phosphocholine." [] subset: 3_STAR synonym: "LPC 14:0" RELATED [ChEBI] synonym: "LPC(14:0)" RELATED [ChEBI] synonym: "LyPC(14:0)" RELATED [ChEBI] synonym: "LysoPC(14:0)" RELATED [ChEBI] synonym: "lysophosphatidylcholine(14:0)" RELATED [ChEBI] synonym: "myristoyl-sn-glycero-3-phosphocholine" RELATED [ChEBI] synonym: "PC 14:0_0:0" RELATED [ChEBI] synonym: "tetradecanoyl-sn-glycero-3-phosphocholine" RELATED [ChEBI] xref: PMID:19347970 {source="Europe PMC"} is_a: CHEBI:60479 ! lysophosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H46NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "467.30117" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "467.30119" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](CO[*])(COP([O-])(=O)OCC[N+](C)(C)C)O[*]" xsd:string [Term] id: CHEBI:64489 name: 1-myristoyl-sn-glycero-3-phosphocholine namespace: chebi_ontology def: "A lysophosphatidylcholine 14:0 in which the acyl group specified is myristoyl. The major species at pH 7.3." [] subset: 3_STAR synonym: "(2R)-2-hydroxy-3-(tetradecanoyloxy)propyl 2-(trimethylammonio)ethyl phosphate" EXACT IUPAC_NAME [IUPAC] synonym: "1-C14:0-lysophosphatidylcholine betaine" RELATED [ChEBI] synonym: "1-myristoyl-glycero-3-phosphocholine" RELATED [HMDB] synonym: "1-myristoyl-sn-glycero-3-phosphocholine betaine" RELATED [ChEBI] synonym: "1-tetradecanoyl-sn-glycero-3-phosphocholine" RELATED [LIPID_MAPS] synonym: "1-tetradecanoyl-sn-glycero-3-phosphocholine" RELATED [UniProt] synonym: "1-tetradecanoyl-sn-glycero-3-phosphocholine betaine" RELATED [ChEBI] synonym: "LPC(14:0)" RELATED [HMDB] synonym: "LPC(14:0/0:0)" RELATED [HMDB] synonym: "LyPC(14:0)" RELATED [HMDB] synonym: "LyPC(14:0/0:0)" RELATED [HMDB] synonym: "LysoPC(14:0/0:0)" RELATED [HMDB] synonym: "Lysophosphatidylcholine(14:0/0:0)" RELATED [HMDB] synonym: "PC(14:0/0:0)" RELATED [LIPID_MAPS] xref: HMDB:HMDB0010379 xref: LIPID_MAPS_instance:LMGP01050012 {source="LIPID MAPS"} xref: PMID:19347970 {source="Europe PMC"} is_a: CHEBI:64483 ! lysophosphatidylcholine 14:0 property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H46NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C22H46NO7P/c1-5-6-7-8-9-10-11-12-13-14-15-16-22(25)28-19-21(24)20-30-31(26,27)29-18-17-23(2,3)4/h21,24H,5-20H2,1-4H3/t21-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VXUOFDJKYGDUJI-OAQYLSRUSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "467.578" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "467.30119" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(C[N+](C)(C)C)OP(=O)([O-])OC[C@](COC(=O)CCCCCCCCCCCCC)([H])O" xsd:string [Term] id: CHEBI:64504 name: phosphatidylcholine 36:5 namespace: chebi_ontology def: "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 36 carbons in total with 5 double bonds." [] subset: 3_STAR synonym: "GPCho(36:5)" RELATED [ChEBI] synonym: "PC 36:5" RELATED [ChEBI] synonym: "PC(36:5)" RELATED [ChEBI] synonym: "phosphatidylcholine(36:5)" RELATED [HMDB] xref: PMID:19347970 {source="Europe PMC"} is_a: CHEBI:64482 ! phosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C44H78NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "779.546509" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "779.54651" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](COC(C)=O)(COP([O-])(=O)OCC[N+](C)(C)C)OC(C)=O" xsd:string [Term] id: CHEBI:64516 name: phosphatidylcholine 34:2 namespace: chebi_ontology def: "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 34 carbons in total with 2 double bonds." [] subset: 3_STAR synonym: "GPCho(34:2)" RELATED [ChEBI] synonym: "PC 34:2" RELATED [ChEBI] synonym: "PC(34:2)" RELATED [ChEBI] synonym: "phosphatidylcholine(34:2)" RELATED [ChEBI] xref: PMID:19347970 {source="Europe PMC"} is_a: CHEBI:64482 ! phosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C42H80NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "757.562134" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "757.56216" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](COC(C)=O)(COP([O-])(=O)OCC[N+](C)(C)C)OC(C)=O" xsd:string [Term] id: CHEBI:64517 name: phosphatidylcholine 34:1 namespace: chebi_ontology def: "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 34 carbons in total with 1 double bond." [] subset: 3_STAR synonym: "GPCho(34:1)" RELATED [ChEBI] synonym: "PC 34:1" RELATED [ChEBI] synonym: "PC(34:1)" RELATED [ChEBI] synonym: "phosphatidylcholine(34:1)" RELATED [ChEBI] xref: PMID:19347970 {source="Europe PMC"} is_a: CHEBI:64482 ! phosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C42H82NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "760.07610" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "759.57781" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](COC(C)=O)(COP([O-])(=O)OCC[N+](C)(C)C)OC(C)=O" xsd:string [Term] id: CHEBI:64519 name: phosphatidylcholine 38:6 namespace: chebi_ontology def: "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 38 carbons in total with 6 double bonds." [] subset: 3_STAR synonym: "GPCho(38:6)" RELATED [ChEBI] synonym: "PC 38:6" RELATED [ChEBI] synonym: "PC(38:6)" RELATED [ChEBI] synonym: "phosphatidylcholine(38:6)" RELATED [ChEBI] xref: PMID:19347970 {source="Europe PMC"} is_a: CHEBI:64482 ! phosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C46H80NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "806.10310" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "805.56216" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](COC(C)=O)(COP([O-])(=O)OCC[N+](C)(C)C)OC(C)=O" xsd:string [Term] id: CHEBI:64520 name: phosphatidylcholine 36:4 namespace: chebi_ontology def: "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 36 carbons in total with 4 double bonds." [] subset: 3_STAR synonym: "GPCho(36:4)" RELATED [ChEBI] synonym: "PC 36:4" RELATED [ChEBI] synonym: "PC(36:4)" RELATED [ChEBI] synonym: "phosphatidylcholine(36:4)" RELATED [ChEBI] xref: PMID:19347970 {source="Europe PMC"} is_a: CHEBI:64482 ! phosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C44H80NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "782.08170" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "781.56216" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](COC(C)=O)(COP([O-])(=O)OCC[N+](C)(C)C)OC(C)=O" xsd:string [Term] id: CHEBI:64523 name: phosphatidylcholine 36:3 namespace: chebi_ontology def: "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 36 carbons in total with 3 double bonds." [] subset: 3_STAR synonym: "GPCho(36:3)" RELATED [ChEBI] synonym: "PC 36:3" RELATED [ChEBI] synonym: "PC(36.3)" RELATED [ChEBI] synonym: "phosphatidylcholine(36:3)" RELATED [ChEBI] xref: PMID:19347970 {source="Europe PMC"} is_a: CHEBI:64482 ! phosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C44H82NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "784.09750" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "783.57781" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](COC([*])=O)(COP([O-])(=O)OCC[N+](C)(C)C)OC([*])=O" xsd:string [Term] id: CHEBI:64524 name: phosphatidylcholine 40:5 namespace: chebi_ontology def: "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 40 carbons in total with 5 double bonds." [] subset: 3_STAR synonym: "GPCho(40:5)" RELATED [ChEBI] synonym: "PC 40:5" RELATED [ChEBI] synonym: "PC(40:5)" RELATED [ChEBI] synonym: "phosphatidylcholine(40:5)" RELATED [ChEBI] xref: PMID:19347970 {source="Europe PMC"} is_a: CHEBI:64482 ! phosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C48H86NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "836.17210" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "835.60911" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](COC([*])=O)(COP([O-])(=O)OCC[N+](C)(C)C)OC([*])=O" xsd:string [Term] id: CHEBI:64525 name: phosphatidylcholine 38:5 namespace: chebi_ontology def: "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 38 carbons in total with 5 double bonds." [] subset: 3_STAR synonym: "GPCho(38:5)" RELATED [ChEBI] synonym: "PC 38:5" RELATED [ChEBI] synonym: "PC(38:5)" RELATED [ChEBI] synonym: "phosphatidylcholine(38:5)" RELATED [ChEBI] xref: PMID:19347970 {source="Europe PMC"} xref: PMID:23475189 {source="Europe PMC"} is_a: CHEBI:64482 ! phosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C46H82NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "808.11890" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "807.57781" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](COC([*])=O)(COP([O-])(=O)OCC[N+](C)(C)C)OC([*])=O" xsd:string [Term] id: CHEBI:64526 name: phosphatidylcholine 38:4 namespace: chebi_ontology def: "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 38 carbons in total with 4 double bonds." [] subset: 3_STAR synonym: "GPCho(38:4)" RELATED [ChEBI] synonym: "PC 38:4" RELATED [ChEBI] synonym: "PC(38:4)" RELATED [ChEBI] synonym: "phosphatidylcholine(38:4)" RELATED [ChEBI] xref: PMID:19347970 {source="Europe PMC"} is_a: CHEBI:64482 ! phosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C46H84NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "809.593445" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "809.59346" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](COC([*])=O)(COP([O-])(=O)OCC[N+](C)(C)C)OC([*])=O" xsd:string [Term] id: CHEBI:64533 name: phosphatidylcholine O-40:6 namespace: chebi_ontology def: "A glycerophosphocholine that is an alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 40 carbons and 6 double bonds." [] subset: 3_STAR synonym: "GPCho(O-40:6)" RELATED [ChEBI] synonym: "PC O-40:6" RELATED [HMDB] synonym: "PC(O-40:6)" RELATED [ChEBI] synonym: "phosphatidylcholine(O-40:6)" RELATED [ChEBI] xref: PMID:19347970 {source="Europe PMC"} is_a: CHEBI:36313 ! glycerophosphocholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C48H86NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "820.17270" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "819.61419" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C@](CO*)(O*)([H])COP(OCC[N+](C)(C)C)(=O)[O-]" xsd:string [Term] id: CHEBI:64536 name: phosphatidylcholine O-38:6 namespace: chebi_ontology def: "A glycerophosphocholine that is an alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 38 carbons and 6 double bonds." [] subset: 3_STAR synonym: "GPCho(O-38:6)" RELATED [ChEBI] synonym: "PC O-38:6" RELATED [ChEBI] synonym: "PC(O-38:6)" RELATED [ChEBI] synonym: "phosphatidylcholine(O-38:6)" RELATED [ChEBI] xref: PMID:19347970 {source="Europe PMC"} is_a: CHEBI:36313 ! glycerophosphocholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C46H82NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "791.58289" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "791.58289" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C@](CO*)(O*)([H])COP(OCC[N+](C)(C)C)(=O)[O-]" xsd:string [Term] id: CHEBI:64537 name: phosphatidylcholine O-36:3 namespace: chebi_ontology def: "A glycerophosphocholine that is an alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 36 carbons and 3 double bonds." [] subset: 3_STAR synonym: "GPCho(O-36:3)" RELATED [ChEBI] synonym: "PC O-36:3" RELATED [ChEBI] synonym: "PC(O-36:3)" RELATED [ChEBI] synonym: "phosphatidylcholine(O-36:3)" RELATED [ChEBI] xref: PMID:19347970 {source="Europe PMC"} is_a: CHEBI:36313 ! glycerophosphocholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C44H84NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "769.59854" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "769.59854" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C@](CO*)(O*)([H])COP(OCC[N+](C)(C)C)(=O)[O-]" xsd:string [Term] id: CHEBI:64540 name: phosphatidylcholine O-36:5 namespace: chebi_ontology def: "A glycerophosphocholine that is an alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 36 carbons and 5 double bonds." [] subset: 3_STAR synonym: "GPCho(O-36:5)" RELATED [ChEBI] synonym: "PC O-36:5" RELATED [ChEBI] synonym: "PC(O-36:5)" RELATED [ChEBI] synonym: "phosphatidylcholine(O-36:5)" RELATED [ChEBI] xref: PMID:19347970 {source="Europe PMC"} is_a: CHEBI:36313 ! glycerophosphocholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C44H80NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "765.56724" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "765.56724" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](CO[*])(COP([O-])(=O)OCC[N+](C)(C)C)O[*]" xsd:string [Term] id: CHEBI:64541 name: phosphatidylcholine O-34:3 namespace: chebi_ontology def: "A glycerophosphocholine that is an alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 34 carbons and 3 double bonds." [] subset: 3_STAR synonym: "GPCho(O-34:3)" RELATED [ChEBI] synonym: "PC O-34:3" RELATED [ChEBI] synonym: "PC(O-34:3)" RELATED [ChEBI] synonym: "phosphatidylcholine(O-34:3)" RELATED [ChEBI] xref: PMID:19347970 {source="Europe PMC"} is_a: CHEBI:36313 ! glycerophosphocholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C42H80NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "742.06090" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "741.56724" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](CO[*])(COP([O-])(=O)OCC[N+](C)(C)C)O[*]" xsd:string [Term] id: CHEBI:64544 name: phosphatidylcholine O-34:2 namespace: chebi_ontology def: "A glycerophosphocholine that is an alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 34 carbons and 2 double bonds." [] subset: 3_STAR synonym: "GPCho(O-34:2)" RELATED [ChEBI] synonym: "PC O-34:2" RELATED [ChEBI] synonym: "PC(O-34:2)" RELATED [ChEBI] synonym: "phosphatidylcholine(O-34:2)" RELATED [ChEBI] xref: PMID:19347970 {source="Europe PMC"} is_a: CHEBI:36313 ! glycerophosphocholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C42H82NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "744.07670" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "743.58289" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](CO[*])(COP([O-])(=O)OCC[N+](C)(C)C)O[*]" xsd:string [Term] id: CHEBI:64549 name: lysophosphatidylcholine 18:2 namespace: chebi_ontology def: "A lysophosphatidylcholine in which the acyl group (position not specified) contains 18 carbons and 2 double bonds." [] subset: 3_STAR synonym: "LPC 18:2" RELATED [ChEBI] synonym: "LPC(18:2)" RELATED [ChEBI] synonym: "LyPC(18:2)" RELATED [ChEBI] synonym: "LysoPC(18:2)" RELATED [ChEBI] synonym: "lysophosphatidylcholine 18:2" EXACT [UniProt] synonym: "octadecadienoylglycero-3-phosphocholine" RELATED [ChEBI] synonym: "PC 18:2_0.0" RELATED [ChEBI] xref: PMID:19347970 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} is_a: CHEBI:60479 ! lysophosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C26H50NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "519.652" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "519.33249" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C@](CO*)(O*)([H])COP(OCC[N+](C)(C)C)(=O)[O-]" xsd:string [Term] id: CHEBI:64552 name: 2-hydroxybutyrate namespace: chebi_ontology def: "A hydroxy fatty acid anion that is the conjugate base of 2-hydroxybutyric acid, obtained by deprotonation of the carboxy group." [] subset: 3_STAR synonym: "2-hydroxybutanoate" RELATED [UniProt] synonym: "2-hydroxybutanoate" RELATED [ChEBI] synonym: "alpha-hydroxybutanoate" RELATED [ChEBI] synonym: "alpha-hydroxybutyrate" RELATED [ChEBI] xref: PMID:17190852 {source="Europe PMC"} xref: PMID:21886157 {source="Europe PMC"} xref: Reaxys:3661492 {source="Reaxys"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H7O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H8O3/c1-2-3(5)4(6)7/h3,5H,2H2,1H3,(H,6,7)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "AFENDNXGAFYKQO-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "103.09660" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "103.04007" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCC(O)C([O-])=O" xsd:string [Term] id: CHEBI:64559 name: lysophosphatidylcholine 20:5 namespace: chebi_ontology def: "A lysophosphatidylcholine in which the acyl group contains 20 carbons and 5 double bonds. If R1 is the acyl group and R2 is a hydrogen then the molecule is a 1-acyl-sn-glycero-3-phosphocholine. If R1 is a hydrogen and R2 is the acyl group then the molecule is a 2-acyl-sn-glycero-3-phosphocholine." [] subset: 3_STAR synonym: "LPC 20:5" RELATED [ChEBI] synonym: "LPC(20:5)" RELATED [ChEBI] synonym: "LyPC(20:5)" RELATED [ChEBI] synonym: "LysoPC(20:5)" RELATED [ChEBI] synonym: "lysophosphatidylcholine(20:5)" RELATED [ChEBI] synonym: "PC 20:5_0.0" RELATED [ChEBI] xref: PMID:19347970 {source="Europe PMC"} is_a: CHEBI:60479 ! lysophosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C28H48NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "541.316833" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "541.31684" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C@](CO*)(O*)([H])COP(OCC[N+](C)(C)C)(=O)[O-]" xsd:string [Term] id: CHEBI:64560 name: lysophosphatidylcholine 16:1 namespace: chebi_ontology def: "An lysophosphatidylcholine in which the acyl group is hexadecenoyl (position of double bond not specified). If R1 is hexadecenoyl and R2 is a hydrogen then the molecule is a 1-acyl-sn-glycero-3-phosphocholine. If R1 is a hydrogen and R2 is hexadecenoyl then the molecule is a 2-acyl-sn-glycero-3-phosphocholine." [] subset: 3_STAR synonym: "hexadecenoyl-sn-glycero-3-phosphocholine" RELATED [ChEBI] synonym: "LPC 16:1" RELATED [ChEBI] synonym: "LPC(16:1)" RELATED [ChEBI] synonym: "LyPC(16:1)" RELATED [ChEBI] synonym: "LysoPC(16:1)" RELATED [ChEBI] synonym: "lysophosphatidylcholine(16:1)" RELATED [ChEBI] synonym: "PC 16:1_0.0" RELATED [ChEBI] xref: PMID:19347970 {source="Europe PMC"} is_a: CHEBI:60479 ! lysophosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C24H48NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "493.316833" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "493.31684" xsd:string [Term] id: CHEBI:64561 name: lysophosphatidylcholine 18:0 namespace: chebi_ontology def: "A lysophosphatidylcholine in which the acyl group has a fully saturated C18 chain and is attached to the glycero moiety at either position 1 or 2." [] subset: 3_STAR synonym: "LPC 18:0" RELATED [ChEBI] synonym: "LPC(18:0)" RELATED [ChEBI] synonym: "LysoPC(18:0)" RELATED [ChEBI] synonym: "Lysophosphatidylcholine(18:0)" RELATED [ChEBI] synonym: "octadecanoyl-sn-glycero-3-phosphocholine" RELATED [ChEBI] synonym: "PC 18:0_0.0" RELATED [ChEBI] synonym: "stearoyl--sn-glycero-3-phosphocholine" RELATED [ChEBI] xref: PMID:19347970 {source="Europe PMC"} is_a: CHEBI:60479 ! lysophosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C26H54NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "523.68320" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "523.36379" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C@](CO*)(O*)([H])COP(OCC[N+](C)(C)C)(=O)[O-]" xsd:string [Term] id: CHEBI:64563 name: lysophosphatidylcholine 16:0 namespace: chebi_ontology def: "A lysophosphatidylcholine in which the acyl group has a fully saturated C16 chain and is attached to the glycero moiety at either position 1 or 2." [] subset: 3_STAR synonym: "hexadecanoyl-sn-glycero-3-phosphocholine" RELATED [ChEBI] synonym: "hexadecanoyl-sn-glycero-3-phosphocholine" RELATED [UniProt] synonym: "LPC 16:0" RELATED [ChEBI] synonym: "LPC(16:0)" RELATED [ChEBI] synonym: "LyPC(16:0)" RELATED [ChEBI] synonym: "LysoPC(16:0)" RELATED [ChEBI] synonym: "Lysophosphatidylcholine(16:0)" RELATED [ChEBI] synonym: "palmitoyl-lysophosphatidylcholine" RELATED [ChEBI] synonym: "palmitoyl-sn-glycero-3-phosphocholine" RELATED [ChEBI] synonym: "PC 16:0_0.0" RELATED [ChEBI] xref: PMID:19347970 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} is_a: CHEBI:60479 ! lysophosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C24H50NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "495.332489" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "495.33249" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](CO[*])(COP([O-])(=O)OCC[N+](C)(C)C)O[*]" xsd:string [Term] id: CHEBI:64564 name: thioproline namespace: chebi_ontology def: "A sulfur-containing amino acid that is proline in which the methylene group at position 4 is replaced by a sulfur atom." [] subset: 3_STAR synonym: "1,3-thiazolidine-4-carboxylic acid" EXACT IUPAC_NAME [IUPAC] synonym: "4-Carboxythiazolidine" RELATED [ChemIDplus] synonym: "4-Thiazolidinecarboxylic acid" RELATED [ChemIDplus] synonym: "Acide DL thiazolidine carboxylique-4" RELATED [ChemIDplus] synonym: "Acide thiazolidine-4-carboxylique" RELATED [ChemIDplus] synonym: "DL-Thiaproline" RELATED [ChemIDplus] synonym: "DL-Thiazolidinecarboxylic acid" RELATED [ChemIDplus] synonym: "Thiaproline" RELATED [ChemIDplus] synonym: "Thiazolidine-4-carboxylic acid" RELATED [ChemIDplus] synonym: "Thiazolidinecarboxylic acid" RELATED [ChemIDplus] synonym: "timonacic" RELATED INN [ChemIDplus] synonym: "timonacico" RELATED INN [ChemIDplus] synonym: "timonacicum" RELATED INN [ChemIDplus] xref: CAS:444-27-9 {source="ChemIDplus"} xref: Drug_Central:2670 {source="DrugCentral"} xref: KEGG:D08601 xref: Patent:US2009298895 xref: PMID:20875196 {source="Europe PMC"} xref: PMID:21255698 {source="Europe PMC"} xref: PMID:21410852 {source="Europe PMC"} xref: PMID:22244306 {source="Europe PMC"} xref: Reaxys:81066 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H7NO2S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H7NO2S/c6-4(7)3-1-8-2-5-3/h3,5H,1-2H2,(H,6,7)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DZLNHFMRPBPULJ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "133.16900" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "133.01975" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)C1CSCN1" xsd:string [Term] id: CHEBI:64566 name: lysophosphatidylcholine 18:1 namespace: chebi_ontology def: "A lysophosphatidylcholine in which the remaining acyl group (position not specified) contains 18 carbons with 1 double bond." [] subset: 3_STAR synonym: "LPC 18:1" RELATED [ChEBI] synonym: "LPC(18:1)" RELATED [ChEBI] synonym: "LysoPC(18:1)" RELATED [ChEBI] synonym: "lysophosphatidylcholine(18:1)" RELATED [ChEBI] synonym: "octadecenoyl-sn-glycero-3-phosphocholine" RELATED [ChEBI] synonym: "octadecenoyl-sn-glycero-3-phosphocholine" RELATED [UniProt] synonym: "PC 18:1_0.0" RELATED [ChEBI] xref: PMID:19347970 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} is_a: CHEBI:60479 ! lysophosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C26H52NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "521.348145" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "521.34814" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](CO[*])(COP([O-])(=O)OCC[N+](C)(C)C)O[*]" xsd:string [Term] id: CHEBI:64567 name: lysophosphatidylcholine 22:6 namespace: chebi_ontology def: "An acyl-sn-glycero-3-phosphocholine in which the acyl group (position not specified) contains 22 carbons with 6 double bonds." [] subset: 3_STAR synonym: "docosahexaenoyl-sn-glycero-3-phosphocholine" RELATED [ChEBI] synonym: "LPC 22:6" RELATED [ChEBI] synonym: "LPC(22:6)" RELATED [ChEBI] synonym: "LysoPC(22:6)" RELATED [ChEBI] synonym: "lysophosphatidylcholine(22:6)" RELATED [ChEBI] synonym: "PC 22:6_0.0" RELATED [ChEBI] xref: PMID:19347970 {source="Europe PMC"} is_a: CHEBI:60479 ! lysophosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C30H50NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "567.332520" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "567.33249" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](CO[*])(COP([O-])(=O)OCC[N+](C)(C)C)O[*]" xsd:string [Term] id: CHEBI:64568 name: lysophosphatidylcholine 20:4 namespace: chebi_ontology def: "An acyl-sn-glycero-3-phosphocholine in which the remaining acyl group (position not specified) contains 20 carbons with 4 double bonds." [] subset: 3_STAR synonym: "eicosapentaenoyl-sn-glycero-3-phosphocholine" RELATED [ChEBI] synonym: "LPC 20:4" RELATED [ChEBI] synonym: "LPC(20:4)" RELATED [ChEBI] synonym: "LysoPC(20:4)" RELATED [ChEBI] synonym: "lysophosphatidylcholine(20:4)" RELATED [ChEBI] synonym: "PC 20:4_0.0" RELATED [ChEBI] xref: PMID:19347970 {source="Europe PMC"} xref: PMID:23078175 {source="Europe PMC"} is_a: CHEBI:60479 ! lysophosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C28H50NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "543.332520" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "543.33249" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](CO[*])(COP([O-])(=O)OCC[N+](C)(C)C)O[*]" xsd:string [Term] id: CHEBI:64569 name: lysophosphatidylethanolamine 20:4 namespace: chebi_ontology def: "An acyl-sn-glycero-3-phosphoethanolamine in which the acyl group contains twenty carbons and four double bonds. If R1 is an acyl group and R2 is a hydrogen then the molecule is a 1-acyl-sn-glycero-3-phosphoethanolamine. If R1 is a hydrogen and R2 is an acyl group then the molecule is a 2-acyl-sn-glycero-3-phosphoethanolamine." [] subset: 3_STAR synonym: "LPE 20:4" RELATED [ChEBI] synonym: "LPE(20:4)" RELATED [HMDB] synonym: "Lyso-PE(20:4)" RELATED [HMDB] synonym: "LysoPE(20:4)" RELATED [HMDB] synonym: "Lysophosphatidylethanolamine(20:4)" RELATED [HMDB] synonym: "PE 20:4_0.0" RELATED [ChEBI] xref: PMID:19347970 {source="Europe PMC"} is_a: CHEBI:64574 ! lysophosphatidylethanolamine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C25H44NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "501.594" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "501.28554" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C@](CO*)(O*)([H])COP(OCCN)(=O)O" xsd:string [Term] id: CHEBI:64574 name: lysophosphatidylethanolamine namespace: chebi_ontology def: "A glycerophosphoethanolamine resulting from partial hydrolysis of a phosphatidylethanolamine, which removes one of the fatty acid groups. The structure is depicted in the image where R(1) = acyl, R(2) = H or where R(1) = H, R(2) = acyl." [] subset: 3_STAR synonym: "monoacylglycerophosphoethanolamine" RELATED [ChEBI] is_a: CHEBI:36314 ! glycerophosphoethanolamine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H13NO7PR" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "213.126" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "213.04022" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](CO[*])(COP(O)(=O)OCCN)O[*]" xsd:string [Term] id: CHEBI:64575 name: lysophosphatidylethanolamine 18:1 namespace: chebi_ontology def: "A lysophosphatidylethanolamine in which the acyl group (position not specified) contains 18 carbons and 1 double bond." [] subset: 3_STAR synonym: "LPE 18:1" RELATED [ChEBI] synonym: "LPE(18:1)" RELATED [ChEBI] synonym: "Lyso-PE(18:1)" RELATED [ChEBI] synonym: "LysoPE(18:1)" RELATED [ChEBI] synonym: "Lysophosphatidylethanolamine(18:1)" RELATED [ChEBI] synonym: "octadecenoyl-lysophosphatidylethanolamine" RELATED [ChEBI] synonym: "octadecenoyl-sn-glycero-3-phosphoethanolamine" RELATED [ChEBI] synonym: "PE 18:1_0.0" RELATED [ChEBI] xref: PMID:19347970 {source="Europe PMC"} is_a: CHEBI:64574 ! lysophosphatidylethanolamine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C23H46NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "479.301178" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "479.30119" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C@](CO*)(O*)([H])COP(OCCN)(=O)O" xsd:string [Term] id: CHEBI:64576 name: lysophosphatidylethanolamine 18:0 namespace: chebi_ontology def: "A lysophosphatidylethanolamine in which the acyl group has a fully saturated C18 chain and is attached to the glycero moiety at either position 1 or 2." [] subset: 3_STAR synonym: "LPE 18:0" RELATED [ChEBI] synonym: "LPE(18:0)" RELATED [ChEBI] synonym: "Lyso-PE(18:0)" RELATED [ChEBI] synonym: "LysoPE(18:0)" RELATED [ChEBI] synonym: "Lysophosphatidylethanolamine(18:0)" RELATED [ChEBI] synonym: "Octadecanoyl-lysophosphatidylethanolamine" RELATED [ChEBI] synonym: "octadecanoyl-sn-glycero-3-phosphoethanolamine" RELATED [ChEBI] synonym: "PE 18:0_0.0" RELATED [ChEBI] synonym: "Stearoyl phosphatidylethanolamine" RELATED [ChEBI] synonym: "stearoyl-sn-glycero-3-phosphoethanolamine" RELATED [ChEBI] xref: PMID:19347970 {source="Europe PMC"} is_a: CHEBI:64574 ! lysophosphatidylethanolamine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C23H48NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "481.316833" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "481.31684" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C@](CO*)(O*)([H])COP(OCCN)(=O)O" xsd:string [Term] id: CHEBI:64583 name: sphingomyelin namespace: chebi_ontology def: "Any of a class of phospholipids in which the amino group of a sphingoid base is in amide linkage with one of several fatty acids, while the terminal hydroxy group of the sphingoid base is esterified to phosphorylcholine." [] subset: 3_STAR synonym: "an N-(acyl)-sphingosylphosphocholine" RELATED [UniProt] synonym: "Ceramide phosphocholine" RELATED [LIPID_MAPS] xref: LIPID_MAPS_class:LMSP0301 {source="LIPID MAPS"} xref: PMID:27242221 {source="Europe PMC"} is_a: CHEBI:16247 ! phospholipid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H19N2O6PR2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "282.23070" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "282.09807" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[N+](C)(C)CCOP([O-])(=O)OC[C@H](NC([*])=O)[C@H](O)[*]" xsd:string [Term] id: CHEBI:64645 name: amyloid-beta namespace: chebi_ontology alt_id: CHEBI:53002 def: "A peptide of 36-43 amino acids that is processed from the amyloid precursor protein. Appears to be the main constituent of amyloid plaques (deposits found in the brains of Alzheimer's disease patients)." [] subset: 3_STAR synonym: "amyloid beta" RELATED [SUBMITTER] synonym: "beta amyloid" RELATED [ChEBI] synonym: "beta-amyloid" RELATED [ChEBI] synonym: "beta-amyloids" RELATED [ChEBI] xref: KEGG:C16514 xref: KEGG:C16515 xref: PMID:21892760 {source="Europe PMC"} xref: PMID:22226401 {source="Europe PMC"} xref: PMID:22457725 {source="Europe PMC"} xref: PMID:22459190 {source="Europe PMC"} xref: PMID:22561032 {source="Europe PMC"} xref: PMID:22569063 {source="Europe PMC"} xref: Wikipedia:Beta_amyloid is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:6472 name: lincomycin namespace: chebi_ontology def: "A carbohydrate-containing antibiotic produced by the actinomyces Streptomyces lincolnensis." [] subset: 3_STAR synonym: "Cillimycin" RELATED [ChemIDplus] synonym: "lincomicina" RELATED INN [ChemIDplus] synonym: "Lincomycin" EXACT [KEGG_COMPOUND] synonym: "lincomycin" RELATED INN [WHO_MedNet] synonym: "lincomycine" RELATED INN [ChemIDplus] synonym: "lincomycinum" RELATED INN [ChemIDplus] synonym: "methyl 6,8-dideoxy-6-({[(2S,4R)-1-methyl-4-propylpyrrolidin-2-yl]carbonyl}amino)-1-thio-D-erythro-alpha-D-galacto-octopyranoside" EXACT IUPAC_NAME [IUPAC] synonym: "Methyl 6,8-dideoxy-6-trans-(1-methyl-4-propyl-L-2-pyrrolidinecarboxamido)-1-thio-D-erythro-alpha-D-galacto-octopyranoside" RELATED [NIST_Chemistry_WebBook] xref: CAS:154-21-2 {source="KEGG COMPOUND"} xref: CAS:154-21-2 {source="ChemIDplus"} xref: Drug_Central:1582 {source="DrugCentral"} xref: DrugBank:DB01627 xref: HMDB:HMDB0015564 xref: KEGG:C06812 xref: KEGG:C14002 xref: KEGG:D00223 xref: KEGG:D02346 xref: LINCS:LSM-5602 xref: PMID:24324587 {source="Europe PMC"} xref: Reaxys:707677 {source="Reaxys"} xref: Wikipedia:Lincomycin is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H34N2O6S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H34N2O6S/c1-5-6-10-7-11(20(3)8-10)17(25)19-12(9(2)21)16-14(23)13(22)15(24)18(26-16)27-4/h9-16,18,21-24H,5-8H2,1-4H3,(H,19,25)/t9-,10-,11+,12-,13+,14-,15-,16-,18-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OJMMVQQUTAEWLP-KIDUDLJLSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "406.53700" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "406.21376" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCC[C@@H]1C[C@H](N(C)C1)C(=O)N[C@H]([C@@H](C)O)[C@H]1O[C@H](SC)[C@H](O)[C@@H](O)[C@H]1O" xsd:string [Term] id: CHEBI:6498 name: lipoxin A4 namespace: chebi_ontology def: "A C20 hydroxy fatty acid having (5S)-, (6R)- and (15S)-hydroxy groups as well as (7E)- (9E)-, (11Z)- and (13E)-double bonds." [] subset: 3_STAR synonym: "(5S,6R,15S)-trihydroxy-7,9,13-trans-11-cis-eicosatetraenoic acid" RELATED [ChEBI] synonym: "(5S,6R,7E,9E,11Z,13E,15S)-5,6,15-trihydroxy-7,9,11,13-eicosatetraenoic acid" RELATED [ChEBI] synonym: "(5S,6R,7E,9E,11Z,13E,15S)-5,6,15-trihydroxyeicosa-7,9,11,13-tetraenoic acid" RELATED [ChEBI] synonym: "(5S,6R,7E,9E,11Z,13E,15S)-5,6,15-trihydroxyicosa-7,9,11,13-tetraenoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "(7E,9E,11Z,13E)-(5S,6R,15S)-5,6,15-Trihydroxyicosa-7,9,11,13-tetraenoic acid" RELATED [KEGG_COMPOUND] synonym: "5(S),6(R),15(S)-trihydroxyeicosa-7E,9E,11Z,13E-tetraenoic acid" RELATED [ChEBI] synonym: "5S,6R,15S-trihydroxy-7,9,13-trans-11-cis-eicosatetraenoic acid" RELATED [ChEBI] synonym: "5S,6R,15S-Trihydroxy-7E,9E,11Z,13E-eicosatetraenoic acid" RELATED [KEGG_COMPOUND] synonym: "5S,6R-LipoxinA4" RELATED [LIPID_MAPS] synonym: "6R-LXA4" RELATED [ChEBI] synonym: "Lipoxin A4" EXACT [KEGG_COMPOUND] synonym: "lipoxin A4" EXACT [ChEBI] synonym: "LXA4" RELATED [ChEBI] synonym: "LXA4" RELATED [KEGG_COMPOUND] xref: HMDB:HMDB0004385 xref: KEGG:C06314 xref: LIPID_MAPS_instance:LMFA03040001 {source="LIPID MAPS"} xref: PMID:20435922 {source="Europe PMC"} xref: PMID:20802423 {source="Europe PMC"} xref: PMID:20833483 {source="Europe PMC"} xref: PMID:20950211 {source="Europe PMC"} xref: PMID:20959513 {source="Europe PMC"} xref: PMID:21263017 {source="Europe PMC"} xref: PMID:8690917 {source="Europe PMC"} xref: Reaxys:4698639 {source="Reaxys"} is_a: CHEBI:35366 ! fatty acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H32O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H32O5/c1-2-3-8-12-17(21)13-9-6-4-5-7-10-14-18(22)19(23)15-11-16-20(24)25/h4-7,9-10,13-14,17-19,21-23H,2-3,8,11-12,15-16H2,1H3,(H,24,25)/b6-4-,7-5+,13-9+,14-10+/t17-,18+,19-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IXAQOQZEOGMIQS-SSQFXEBMSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "352.46508" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "352.22497" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCC[C@H](O)\\C=C\\C=C/C=C/C=C/[C@@H](O)[C@@H](O)CCCC(O)=O" xsd:string [Term] id: CHEBI:65097 name: 2-hydroxyhexadecanoate namespace: chebi_ontology def: "A hydroxy fatty acid anion that is the conjugate base of 2-hydroxypalmitic acid, obtained by deprotonation of the carboxy group; major species at pH 7.3." [] subset: 3_STAR synonym: "2-hydroxyhexadecanoate" EXACT IUPAC_NAME [IUPAC] synonym: "2-hydroxyhexadecanoate" EXACT [UniProt] synonym: "2-hydroxypalmitate" RELATED [ChEBI] xref: MetaCyc:CPD-8475 xref: PMID:10777549 {source="Europe PMC"} xref: PMID:25041144 {source="Europe PMC"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C16H31O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C16H32O3/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15(17)16(18)19/h15,17H,2-14H2,1H3,(H,18,19)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JGHSBPIZNUXPLA-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "271.41550" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "271.22787" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCCCCCCCCC(O)C([O-])=O" xsd:string [Term] id: CHEBI:65293 name: phosphatidylcholine 28:1 namespace: chebi_ontology def: "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 28 carbons in total with 1 double bond." [] subset: 3_STAR synonym: "GPCho(28:1)" RELATED [SUBMITTER] synonym: "PC 28:1" RELATED [SUBMITTER] synonym: "PC(28:1)" RELATED [SUBMITTER] synonym: "phosphatidylcholine(28:1)" RELATED [SUBMITTER] is_a: CHEBI:64482 ! phosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C36H70NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "675.918" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "675.48390" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](COC([*])=O)(COP([O-])(=O)OCC[N+](C)(C)C)OC([*])=O" xsd:string [Term] id: CHEBI:65303 name: phosphatidylcholine 30:0 namespace: chebi_ontology def: "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 30 carbons in total with 0 double bonds." [] subset: 3_STAR synonym: "GPCho(30:0)" RELATED [SUBMITTER] synonym: "PC 30:0" RELATED [SUBMITTER] synonym: "PC(30:0)" RELATED [SUBMITTER] synonym: "phosphatidylcholine(30:0)" RELATED [SUBMITTER] is_a: CHEBI:64482 ! phosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C38H76NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "705.987" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "705.53086" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](COC([*])=O)(COP([O-])(=O)OCC[N+](C)(C)C)OC([*])=O" xsd:string [Term] id: CHEBI:65329 name: LY294002 namespace: chebi_ontology def: "A chromone substituted with a phenyl group at position 8 and a morpholine group at position 2." [] subset: 3_STAR synonym: "2-(4-Morpholinyl)-8-phenyl-4H-1-benzopyran-4-one" RELATED [KEGG_COMPOUND] synonym: "2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one" RELATED [ChemIDplus] synonym: "2-(morpholin-4-yl)-8-phenyl-4H-chromen-4-one" EXACT IUPAC_NAME [IUPAC] synonym: "LY 294002" RELATED [KEGG_COMPOUND] xref: CAS:154447-36-6 {source="KEGG COMPOUND"} xref: CAS:154447-36-6 {source="ChemIDplus"} xref: DrugBank:DB02656 xref: KEGG:C15195 xref: LINCS:LSM-2597 xref: MeSH:C085911 xref: PDBeChem:LY2 xref: PMID:10638524 {source="Europe PMC"} xref: PMID:11517177 {source="Europe PMC"} xref: PMID:18621031 {source="Europe PMC"} xref: PMID:20017609 {source="Europe PMC"} xref: PMID:24666011 {source="Europe PMC"} xref: PMID:24975165 {source="Europe PMC"} xref: PMID:25351625 {source="Europe PMC"} xref: PMID:25488290 {source="Europe PMC"} xref: PMID:26424017 {source="Europe PMC"} xref: Reaxys:8156139 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:22586 ! antioxidant property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H17NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H17NO3/c21-17-13-18(20-9-11-22-12-10-20)23-19-15(7-4-8-16(17)19)14-5-2-1-3-6-14/h1-8,13H,9-12H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CZQHHVNHHHRRDU-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "307.34320" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "307.12084" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O=c1cc(oc2c(cccc12)-c1ccccc1)N1CCOCC1" xsd:string [Term] id: CHEBI:6541 name: losartan namespace: chebi_ontology def: "A biphenylyltetrazole where a 1,1'-biphenyl group is attached at the 5-position and has an additional trisubstituted imidazol-1-ylmethyl group at the 4'-position" [] subset: 3_STAR synonym: "(2-butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl}-1H-imidazol-5-yl)methanol" EXACT IUPAC_NAME [IUPAC] synonym: "(2-butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-imidazol-5-yl)methanol" RELATED [IUPAC] synonym: "2-n-butyl-4-chloro-5-hydroxymethyl-1-[(2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl]imidazole" RELATED [IUPHAR] synonym: "Losartan" EXACT [KEGG_COMPOUND] synonym: "losartan" RELATED INN [ChemIDplus] xref: Beilstein:4770867 {source="Beilstein"} xref: CAS:114798-26-4 {source="ChemIDplus"} xref: CAS:114798-26-4 {source="KEGG COMPOUND"} xref: Drug_Central:1610 {source="DrugCentral"} xref: DrugBank:DB00678 xref: HMDB:HMDB0014816 xref: KEGG:C07072 xref: KEGG:D08146 xref: LINCS:LSM-3701 xref: MeSH:D019808 xref: NCIt:C66869 xref: Patent:EP253310 xref: Patent:US5138069 xref: PMID:11115412 {source="Europe PMC"} xref: PMID:11589260 {source="Europe PMC"} xref: PMID:12561964 {source="Europe PMC"} xref: PMID:15703421 {source="Europe PMC"} xref: PMID:18800450 {source="Europe PMC"} xref: PMID:18800451 {source="Europe PMC"} xref: PMID:18800458 {source="Europe PMC"} xref: PMID:18940180 {source="Europe PMC"} xref: PMID:31299855 {source="Europe PMC"} xref: PMID:31613648 {source="Europe PMC"} xref: PMID:31636311 {source="Europe PMC"} xref: PMID:31893179 {source="Europe PMC"} xref: PMID:32048541 {source="Europe PMC"} xref: Reaxys:4770867 {source="Reaxys"} xref: SNOMEDCT:373567002 xref: SNOMEDCT:96309000 xref: Wikipedia:Losartan is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H22ClN6O.K" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H23ClN6O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C22H23ClN6O/c1-2-3-8-20-24-21(23)19(14-30)29(20)13-15-9-11-16(12-10-15)17-6-4-5-7-18(17)22-25-27-28-26-22/h4-7,9-12,30H,2-3,8,13-14H2,1H3,(H,25,26,27,28)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PSIFNNKUMBGKDQ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "422.91100" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "422.16219" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCc1nc(Cl)c(CO)n1Cc1ccc(cc1)-c1ccccc1-c1nnn[nH]1" xsd:string [Term] id: CHEBI:6550 name: loxtidine namespace: chebi_ontology def: "A triazole that consists of 1,2,4-triazole bearing a methyl substituent at position 1, a hydroxymethyl substituent at position 3 and a {3-[3-(piperidin-1-ylmethyl)phenoxy]propyl}amino group at position 5. A highly potent and selective H2-receptor antagonist." [] subset: 3_STAR synonym: "[1-methyl-5-({3-[3-(piperidin-1-ylmethyl)phenoxy]propyl}amino)-1H-1,2,4-triazol-3-yl]methanol" EXACT IUPAC_NAME [IUPAC] synonym: "lavoltidina" RELATED INN [ChemIDplus] synonym: "Lavoltidine" RELATED [KEGG_COMPOUND] synonym: "lavoltidine" RELATED INN [ChemIDplus] synonym: "lavoltidinum" RELATED INN [ChemIDplus] synonym: "Loxtidina" RELATED [ChemIDplus] synonym: "Loxtidine" EXACT [KEGG_COMPOUND] synonym: "Loxtidinum" RELATED [ChemIDplus] xref: CAS:76956-02-0 {source="ChemIDplus"} xref: CAS:76956-02-0 {source="KEGG COMPOUND"} xref: ChemIDplus:76956-02-0 xref: CiteXplore:10219966 xref: CiteXplore:11025361 xref: CiteXplore:15940630 xref: CiteXplore:1600050 xref: CiteXplore:2038267 xref: CiteXplore:2568467 xref: CiteXplore:2883848 xref: CiteXplore:2895888 xref: CiteXplore:4041682 xref: CiteXplore:6145595 xref: CiteXplore:7605857 xref: CiteXplore:8026255 xref: CiteXplore:9131722 xref: KEGG COMPOUND:76956-02-0 xref: KEGG COMPOUND:C11805 xref: KEGG:C11805 xref: MeSH:C039993 xref: PMID:10219966 {source="Europe PMC"} xref: PMID:11025361 {source="Europe PMC"} xref: PMID:15940630 {source="Europe PMC"} xref: PMID:1600050 {source="Europe PMC"} xref: PMID:2038267 {source="Europe PMC"} xref: PMID:2568467 {source="Europe PMC"} xref: PMID:2883848 {source="Europe PMC"} xref: PMID:2895888 {source="Europe PMC"} xref: PMID:4041682 {source="Europe PMC"} xref: PMID:6145595 {source="Europe PMC"} xref: PMID:7605857 {source="Europe PMC"} xref: PMID:8026255 {source="Europe PMC"} xref: PMID:9131722 {source="Europe PMC"} xref: Reaxys:6876968 {source="Reaxys"} xref: Wikipedia:Loxtidine is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H29N5O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H29N5O2/c1-23-19(21-18(15-25)22-23)20-9-6-12-26-17-8-5-7-16(13-17)14-24-10-3-2-4-11-24/h5,7-8,13,25H,2-4,6,9-12,14-15H2,1H3,(H,20,21,22)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VTLNPNNUIJHJQB-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "359.46590" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "359.23213" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cn1nc(CO)nc1NCCCOc1cccc(CN2CCCCC2)c1" xsd:string [Term] id: CHEBI:6636 name: magnesium dichloride namespace: chebi_ontology def: "A magnesium salt comprising of two chlorine atoms bound to a magnesium atom." [] subset: 3_STAR synonym: "[MgCl2]" RELATED [MolBase] synonym: "Magnesium chloride" RELATED [KEGG_COMPOUND] synonym: "Magnesium chloride anhydrous" RELATED [KEGG_COMPOUND] synonym: "magnesium dichloride" EXACT IUPAC_NAME [IUPAC] synonym: "Magnesiumchlorid" RELATED [ChEBI] synonym: "MgCl2" RELATED [IUPAC] xref: CAS:7786-30-3 {source="KEGG COMPOUND"} xref: CAS:7786-30-3 {source="ChemIDplus"} xref: CAS:7786-30-3 {source="NIST Chemistry WebBook"} xref: Gmelin:9305 {source="Gmelin"} xref: KEGG:C07755 xref: MolBase:1868 xref: Reaxys:8128169 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "Cl2Mg" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/2ClH.Mg/h2*1H;/q;;+2/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "TWRXJAOTZQYOKJ-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "95.21040" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "93.92275" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Mg++].[Cl-].[Cl-]" xsd:string [Term] id: CHEBI:6651 name: malathion namespace: chebi_ontology def: "A racemate comprising equimolar amounts of (R) and (S)-malathion. It is a broad spectrum organophosphate proinsecticide used to control a wide range of pests including Coleoptera, Diptera, fruit flies, mosquitos and spider mites." [] subset: 3_STAR synonym: "[(dimethoxyphosphinothioyl)thio]butanedioic acid diethyl ester" RELATED [NIST_Chemistry_WebBook] synonym: "carbophos" RELATED [NIST_Chemistry_WebBook] synonym: "diethyl ((dimethoxyphosphinothioyl)thio)butanedioate" RELATED [ChEBI] synonym: "diethyl (dimethoxyphosphinothioylthio)succinate" RELATED [ChemIDplus] synonym: "diethyl 2-[(dimethoxyphosphorothioyl)sulfanyl]butanedioate" RELATED [ChEBI] synonym: "Karbofos" RELATED [ChemIDplus] synonym: "Malathion" EXACT [KEGG_COMPOUND] synonym: "Maldison" RELATED [NIST_Chemistry_WebBook] synonym: "mercaptothion" RELATED [NIST_Chemistry_WebBook] synonym: "O,O-dimethyl S-(1,2-bis(ethoxycarbonyl)ethyl)" RELATED [ChemIDplus] synonym: "O,O-dimethyl S-(1,2-dicarbethoxyethyl) dithiophosphate" RELATED [ChemIDplus] synonym: "O,O-dimethyl S-(1,2-dicarbethoxyethyl)phosphorodithioate" RELATED [ChemIDplus] synonym: "O,O-dimethyl S-1,2-di(ethoxycarbamyl)ethyl" RELATED [ChemIDplus] synonym: "O,O-dimethyldithiophosphate diethylmercaptosuccinate" RELATED [ChemIDplus] synonym: "rac-diethyl 2-[(dimethoxyphosphorothioyl)thio]succinate" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:1804525 {source="ChemIDplus"} xref: CAS:121-75-5 {source="KEGG COMPOUND"} xref: CAS:121-75-5 {source="ChemIDplus"} xref: CAS:121-75-5 {source="NIST Chemistry WebBook"} xref: Drug_Central:1626 {source="DrugCentral"} xref: DrugBank:DB00772 xref: KEGG:C07497 xref: KEGG:D00534 xref: PMID:16083681 {source="Europe PMC"} xref: PMID:19399610 {source="Europe PMC"} xref: PMID:28950791 {source="Europe PMC"} xref: PMID:29235025 {source="Europe PMC"} xref: PMID:29792547 {source="Europe PMC"} xref: PMID:29852369 {source="Europe PMC"} xref: Reaxys:1804525 {source="Reaxys"} xref: Wikipedia:Malathion is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:66847 name: phosphatidylcholine 32:3 namespace: chebi_ontology def: "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 32 carbons in total with 3 double bonds." [] subset: 3_STAR synonym: "GPCho(32:3)" RELATED [SUBMITTER] synonym: "PC 32:3" RELATED [SUBMITTER] synonym: "PC(32:3)" RELATED [SUBMITTER] synonym: "phosphatidylcholine(32:3)" RELATED [SUBMITTER] is_a: CHEBI:64482 ! phosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C40H74NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "311.226" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "727.51520" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C@](COC(=O)*)(OC(=O)*)([H])COP(OCC[N+](C)(C)C)(=O)[O-]" xsd:string [Term] id: CHEBI:66848 name: phosphatidylcholine 32:2 namespace: chebi_ontology def: "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 32 carbons in total with 2 double bonds." [] subset: 3_STAR synonym: "GPCho(32:2)" RELATED [SUBMITTER] synonym: "PC 32:2" RELATED [SUBMITTER] synonym: "PC(32:2)" RELATED [SUBMITTER] synonym: "phosphatidylcholine(32:2)" RELATED [SUBMITTER] is_a: CHEBI:64482 ! phosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C40H76NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "730.00710" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "729.53086" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](COC([*])=O)(COP([O-])(=O)OCC[N+](C)(C)C)OC([*])=O" xsd:string [Term] id: CHEBI:66849 name: phosphatidylcholine 32:1 namespace: chebi_ontology def: "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 32 carbons in total with 1 double bond." [] subset: 3_STAR synonym: "GPCho(32:1)" RELATED [SUBMITTER] synonym: "PC 32:1" RELATED [SUBMITTER] synonym: "PC(32:1)" RELATED [SUBMITTER] synonym: "phosphatidylcholine(32:1)" RELATED [SUBMITTER] is_a: CHEBI:64482 ! phosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C40H78NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "732.02300" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "731.54651" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](COC([*])=O)(COP([O-])(=O)OCC[N+](C)(C)C)OC([*])=O" xsd:string [Term] id: CHEBI:66850 name: phosphatidylcholine 32:0 namespace: chebi_ontology def: "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 32 carbons in total with 0 double bonds." [] subset: 3_STAR synonym: "GPCho(32:0)" RELATED [SUBMITTER] synonym: "PC 32:0" RELATED [SUBMITTER] synonym: "PC(32:0)" RELATED [SUBMITTER] synonym: "phosphatidylcholine(32:0)" RELATED [SUBMITTER] xref: PMID:19956342 {source="Europe PMC"} is_a: CHEBI:64482 ! phosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C40H80NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "734.03890" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "733.56216" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](COC([*])=O)(COP([O-])(=O)OCC[N+](C)(C)C)OC([*])=O" xsd:string [Term] id: CHEBI:66856 name: phosphatidylcholine 36:6 namespace: chebi_ontology def: "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 36 carbons in total with 6 double bonds." [] subset: 3_STAR synonym: "GPCho(36:6)" RELATED [SUBMITTER] synonym: "PC 36:6" RELATED [SUBMITTER] synonym: "PC(36:6)" RELATED [SUBMITTER] synonym: "phosphatidylcholine(36:6)" RELATED [SUBMITTER] is_a: CHEBI:64482 ! phosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C44H76NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "778.04990" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "777.53086" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C@](COC(=O)*)(OC(=O)*)([H])COP(OCC[N+](C)(C)C)(=O)[O-]" xsd:string [Term] id: CHEBI:66857 name: phosphatidylcholine 36:1 namespace: chebi_ontology def: "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 36 carbons in total with 1 double bond." [] subset: 3_STAR synonym: "GPCho(36:1)" RELATED [SUBMITTER] synonym: "PC 36:1" RELATED [SUBMITTER] synonym: "PC(36:1)" RELATED [SUBMITTER] synonym: "phosphatidylcholine(36:1)" RELATED [SUBMITTER] xref: PMID:19956342 {source="Europe PMC"} is_a: CHEBI:64482 ! phosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C44H86NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "788.12930" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "787.60911" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C@](COC(=O)*)(OC(=O)*)([H])COP(OCC[N+](C)(C)C)(=O)[O-]" xsd:string [Term] id: CHEBI:66858 name: phosphatidylcholine 36:0 namespace: chebi_ontology def: "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 36 carbons in total and 0 double bonds." [] subset: 3_STAR synonym: "GPCho(36:0)" RELATED [SUBMITTER] synonym: "PC 36:0" RELATED [SUBMITTER] synonym: "PC(36:0)" RELATED [SUBMITTER] synonym: "phosphatidylcholine(36:0)" RELATED [SUBMITTER] is_a: CHEBI:64482 ! phosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C44H88NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "311.226" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "789.62476" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C@](COC(=O)*)(OC(=O)*)([H])COP(OCC[N+](C)(C)C)(=O)[O-]" xsd:string [Term] id: CHEBI:66859 name: phosphatidylcholine 38:2 namespace: chebi_ontology def: "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 38 carbons in total with 2 double bonds." [] subset: 3_STAR synonym: "GPCho(38:2)" RELATED [SUBMITTER] synonym: "PC 38:2" RELATED [SUBMITTER] synonym: "PC(38:2)" RELATED [SUBMITTER] synonym: "phosphatidylcholine(38:2)" RELATED [SUBMITTER] is_a: CHEBI:64482 ! phosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C46H88NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "814.16658" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "813.62476" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C@](COC(=O)*)(OC(=O)*)([H])COP(OCC[N+](C)(C)C)(=O)[O-]" xsd:string [Term] id: CHEBI:66860 name: phosphatidylcholine 38:1 namespace: chebi_ontology def: "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 38 carbons in total with 1 double bond." [] subset: 3_STAR synonym: "GPCho(38:1)" RELATED [SUBMITTER] synonym: "PC 38:1" RELATED [SUBMITTER] synonym: "PC(38:1)" RELATED [SUBMITTER] synonym: "phosphatidylcholine(38:1)" RELATED [SUBMITTER] is_a: CHEBI:64482 ! phosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C46H90NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "816.18246" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "815.64041" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C@](COC(=O)*)(OC(=O)*)([H])COP(OCC[N+](C)(C)C)(=O)[O-]" xsd:string [Term] id: CHEBI:66861 name: phosphatidylcholine 38:0 namespace: chebi_ontology def: "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 38 carbons in total with 0 double bonds." [] subset: 3_STAR synonym: "GPCho(38:0)" RELATED [SUBMITTER] synonym: "PC 38:0" RELATED [SUBMITTER] synonym: "PC(38:0)" RELATED [SUBMITTER] synonym: "phosphatidylcholine(38:0)" RELATED [SUBMITTER] is_a: CHEBI:64482 ! phosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C46H92NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "311.226" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "817.65606" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C@](COC(=O)*)(OC(=O)*)([H])COP(OCC[N+](C)(C)C)(=O)[O-]" xsd:string [Term] id: CHEBI:66862 name: phosphatidylcholine 40:4 namespace: chebi_ontology def: "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 40 carbons in total and 4 double bonds." [] subset: 3_STAR synonym: "GPCho(40:4)" RELATED [SUBMITTER] synonym: "PC 40:4" RELATED [SUBMITTER] synonym: "PC(40:4)" RELATED [SUBMITTER] synonym: "phosphatidylcholine(40:4)" RELATED [SUBMITTER] is_a: CHEBI:64482 ! phosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C48H88NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "311.226" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "837.62476" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C@](COC(=O)*)(OC(=O)*)([H])COP(OCC[N+](C)(C)C)(=O)[O-]" xsd:string [Term] id: CHEBI:66863 name: phosphatidylcholine 40:3 namespace: chebi_ontology def: "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 40 carbons in total with 3 double bonds." [] subset: 3_STAR synonym: "GPCho(40:3)" RELATED [SUBMITTER] synonym: "PC 40:3" RELATED [SUBMITTER] synonym: "PC(40:3)" RELATED [SUBMITTER] synonym: "phosphatidylcholine(40:3)" RELATED [SUBMITTER] is_a: CHEBI:64482 ! phosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C48H90NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "840.20386" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "839.64041" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C@](COC(=O)*)(OC(=O)*)([H])COP(OCC[N+](C)(C)C)(=O)[O-]" xsd:string [Term] id: CHEBI:66864 name: phosphatidylcholine 40:2 namespace: chebi_ontology def: "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 40 carbons in total with 2 double bonds." [] subset: 3_STAR synonym: "GPCho(40:2)" RELATED [SUBMITTER] synonym: "PC 40:2" RELATED [SUBMITTER] synonym: "PC(40:2)" RELATED [SUBMITTER] synonym: "phosphatidylcholine(40:2)" RELATED [SUBMITTER] is_a: CHEBI:64482 ! phosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C48H92NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "842.21974" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "841.65606" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C@](COC(=O)*)(OC(=O)*)([H])COP(OCC[N+](C)(C)C)(=O)[O-]" xsd:string [Term] id: CHEBI:66865 name: phosphatidylcholine 40:1 namespace: chebi_ontology def: "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 40 carbons in total with 1 double bond." [] subset: 3_STAR synonym: "GPCho(40:1)" RELATED [SUBMITTER] synonym: "PC 40:1" RELATED [SUBMITTER] synonym: "PC(40:1)" RELATED [SUBMITTER] synonym: "phosphatidylcholine(40:1)" RELATED [SUBMITTER] is_a: CHEBI:64482 ! phosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C48H94NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "844.23562" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "843.67171" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C@](COC(=O)*)(OC(=O)*)([H])COP(OCC[N+](C)(C)C)(=O)[O-]" xsd:string [Term] id: CHEBI:66965 name: phosphatidylcholine 42:6 namespace: chebi_ontology def: "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 42 carbons in total with 6 double bonds." [] subset: 3_STAR synonym: "GPCho(42:6)" RELATED [SUBMITTER] synonym: "PC 42:6" RELATED [SUBMITTER] synonym: "PC(42:6)" RELATED [SUBMITTER] synonym: "phosphatidylcholine(42:6)" RELATED [SUBMITTER] is_a: CHEBI:64482 ! phosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C50H88NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "862.20940" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "861.62476" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](COC([*])=O)(COP([O-])(=O)OCC[N+](C)(C)C)OC([*])=O" xsd:string [Term] id: CHEBI:66966 name: phosphatidylcholine 42:5 namespace: chebi_ontology def: "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 42 carbons in total with 5 double bonds." [] subset: 3_STAR synonym: "GPCho(42:5)" RELATED [SUBMITTER] synonym: "PC 42:5" RELATED [SUBMITTER] synonym: "PC(42:5)" RELATED [SUBMITTER] synonym: "phosphatidylcholine(42:5)" RELATED [SUBMITTER] is_a: CHEBI:64482 ! phosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C50H90NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "863.64036" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "863.64041" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](COC([*])=O)(COP([O-])(=O)OCC[N+](C)(C)C)OC([*])=O" xsd:string [Term] id: CHEBI:66967 name: phosphatidylcholine 42:4 namespace: chebi_ontology def: "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 42 carbons in total with 4 double bonds." [] subset: 3_STAR synonym: "GPCho(42:4)" RELATED [SUBMITTER] synonym: "PC 42:4" RELATED [SUBMITTER] synonym: "PC(42:4)" RELATED [SUBMITTER] synonym: "phosphatidylcholine(42:4)" RELATED [SUBMITTER] is_a: CHEBI:64482 ! phosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C50H92NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "866.24110" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "865.65606" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](COC([*])=O)(COP([O-])(=O)OCC[N+](C)(C)C)OC([*])=O" xsd:string [Term] id: CHEBI:66969 name: phosphatidylcholine 42:2 namespace: chebi_ontology def: "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 42 carbons in total with 2 double bonds." [] subset: 3_STAR synonym: "GPCho(42:2)" RELATED [SUBMITTER] synonym: "PC 42:2" RELATED [SUBMITTER] synonym: "PC(42:2)" RELATED [SUBMITTER] synonym: "phosphatidylcholine(42:2)" RELATED [SUBMITTER] is_a: CHEBI:64482 ! phosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C50H96NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "870.27290" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "869.68736" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](COC([*])=O)(COP([O-])(=O)OCC[N+](C)(C)C)OC([*])=O" xsd:string [Term] id: CHEBI:66970 name: phosphatidylcholine 42:1 namespace: chebi_ontology def: "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 42 carbons in total with 1 double bond." [] subset: 3_STAR synonym: "GPCho(42:1)" RELATED [SUBMITTER] synonym: "PC 42:1" RELATED [SUBMITTER] synonym: "PC(42:1)" RELATED [SUBMITTER] synonym: "phosphatidylcholine 42:1" EXACT [SUBMITTER] is_a: CHEBI:64482 ! phosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C50H98NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "872.28880" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "871.70301" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](COC([*])=O)(COP([O-])(=O)OCC[N+](C)(C)C)OC([*])=O" xsd:string [Term] id: CHEBI:66971 name: phosphatidylcholine 42:0 namespace: chebi_ontology def: "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 42 carbons in total with 0 double bonds." [] subset: 3_STAR synonym: "GPCho(42:0)" RELATED [SUBMITTER] synonym: "PC 42:0" RELATED [SUBMITTER] synonym: "PC(42:0)" RELATED [SUBMITTER] synonym: "phosphatidylcholine 42:0" EXACT [SUBMITTER] is_a: CHEBI:64482 ! phosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C50H100NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "873.71861" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "873.71866" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](COC([*])=O)(COP([O-])(=O)OCC[N+](C)(C)C)OC([*])=O" xsd:string [Term] id: CHEBI:67064 name: phosphatidylcholine O-36:4 namespace: chebi_ontology def: "A glycerophosphocholine that is an alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 36 carbons and 4 double bonds." [] subset: 3_STAR synonym: "GPCho(O-36:4)" RELATED [SUBMITTER] synonym: "PC O-36:4" RELATED [SUBMITTER] synonym: "PC(O-36:4)" RELATED [SUBMITTER] synonym: "phosphatidylcholine(O-36:4)" RELATED [SUBMITTER] is_a: CHEBI:36313 ! glycerophosphocholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C44H82NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "767.58285" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "767.58289" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](CO[*])(COP([O-])(=O)OCC[N+](C)(C)C)O[*]" xsd:string [Term] id: CHEBI:67065 name: phosphatidylcholine O-36:2 namespace: chebi_ontology def: "A glycerophosphocholine that is an alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 36 carbons and 2 double bonds." [] subset: 3_STAR synonym: "GPCho(O-36:2)" RELATED [SUBMITTER] synonym: "PC O-36:2" RELATED [SUBMITTER] synonym: "PC(O-36:2)" RELATED [SUBMITTER] synonym: "phosphatidylcholine(O-36:2)" RELATED [SUBMITTER] is_a: CHEBI:36313 ! glycerophosphocholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C44H86NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "771.61415" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "771.61419" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](CO[*])(COP([O-])(=O)OCC[N+](C)(C)C)O[*]" xsd:string [Term] id: CHEBI:67066 name: phosphatidylcholine O-36:1 namespace: chebi_ontology def: "A glycerophosphocholine that is an alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 36 carbons and 1 double bond." [] subset: 3_STAR synonym: "GPCho(O-36:1)" RELATED [SUBMITTER] synonym: "PC O-36:1" RELATED [SUBMITTER] synonym: "PC(O-36:1)" RELATED [SUBMITTER] synonym: "phosphatidylcholine(O-36:1)" RELATED [SUBMITTER] is_a: CHEBI:36313 ! glycerophosphocholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C44H88NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "773.62980" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "773.62984" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](CO[*])(COP([O-])(=O)OCC[N+](C)(C)C)O[*]" xsd:string [Term] id: CHEBI:67067 name: phosphatidylcholine O-36:0 namespace: chebi_ontology def: "A glycerophosphocholine that is an alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 36 carbons and 0 double bonds." [] subset: 3_STAR synonym: "GPCho(O-36:0)" RELATED [SUBMITTER] synonym: "PC O-36:0" RELATED [SUBMITTER] synonym: "PC(O-36:0)" RELATED [SUBMITTER] synonym: "phosphatidylcholine(O-36:0)" RELATED [SUBMITTER] is_a: CHEBI:36313 ! glycerophosphocholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C44H90NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "776.16170" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "775.64549" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](CO[*])(COP([O-])(=O)OCC[N+](C)(C)C)O[*]" xsd:string [Term] id: CHEBI:67068 name: phosphatidylcholine O-38:3 namespace: chebi_ontology def: "A glycerophosphocholine that is an alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 38 carbons and 3 double bonds." [] subset: 3_STAR synonym: "GPCho(O-38:3)" RELATED [SUBMITTER] synonym: "PC O-38:3" RELATED [SUBMITTER] synonym: "PC(O-38:3)" RELATED [SUBMITTER] synonym: "phosphatidylcholine(O-38:3)" RELATED [SUBMITTER] is_a: CHEBI:36313 ! glycerophosphocholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C46H88NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "797.62980" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "797.62984" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](CO[*])(COP([O-])(=O)OCC[N+](C)(C)C)O[*]" xsd:string [Term] id: CHEBI:67069 name: phosphatidylcholine O-38:2 namespace: chebi_ontology def: "A glycerophosphocholine that is an alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 38 carbons and 2 double bonds." [] subset: 3_STAR synonym: "GPCho(O-38:2)" RELATED [SUBMITTER] synonym: "PC O-38:2" RELATED [SUBMITTER] synonym: "PC(O-38:2)" RELATED [SUBMITTER] synonym: "phosphatidylcholine(O-38:2)" RELATED [SUBMITTER] is_a: CHEBI:36313 ! glycerophosphocholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C46H90NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "799.64545" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "799.64549" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](CO[*])(COP([O-])(=O)OCC[N+](C)(C)C)O[*]" xsd:string [Term] id: CHEBI:67070 name: phosphatidylcholine O-38:1 namespace: chebi_ontology def: "A glycerophosphocholine that is an alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 38 carbons and 1 double bond." [] subset: 3_STAR synonym: "GPCho(O-38:1)" RELATED [SUBMITTER] synonym: "PC O-38:1" RELATED [SUBMITTER] synonym: "PC(O-38:1)" RELATED [SUBMITTER] synonym: "phosphatidylcholine(O-38:1)" RELATED [SUBMITTER] is_a: CHEBI:36313 ! glycerophosphocholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C46H92NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "801.66110" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "801.66114" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](CO[*])(COP([O-])(=O)OCC[N+](C)(C)C)O[*]" xsd:string [Term] id: CHEBI:67071 name: phosphatidylcholine O-38:0 namespace: chebi_ontology def: "A glycerophosphocholine that is an alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 38 carbons and 0 double bonds." [] subset: 3_STAR synonym: "GPCho(O-38:0)" RELATED [SUBMITTER] synonym: "PC O-38:0" RELATED [SUBMITTER] synonym: "PC(O-38:0)" RELATED [SUBMITTER] synonym: "phosphatidylcholine(O-38:0)" RELATED [SUBMITTER] is_a: CHEBI:36313 ! glycerophosphocholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C46H94NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "803.67675" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "803.67679" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](CO[*])(COP([O-])(=O)OCC[N+](C)(C)C)O[*]" xsd:string [Term] id: CHEBI:67076 name: phosphatidylcholine O-34:1 namespace: chebi_ontology def: "A glycerophosphocholine that is an alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 34 carbons and 1 double bond." [] subset: 3_STAR synonym: "GPCho(O-34:1)" RELATED [SUBMITTER] synonym: "PC O-34:1" RELATED [SUBMITTER] synonym: "PC(O-34:1)" RELATED [SUBMITTER] synonym: "phosphatidylcholine(O-34:1)" RELATED [SUBMITTER] is_a: CHEBI:36313 ! glycerophosphocholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C42H84NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "745.59850" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "745.59854" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](CO[*])(COP([O-])(=O)OCC[N+](C)(C)C)O[*]" xsd:string [Term] id: CHEBI:67077 name: phosphatidylcholine O-34:0 namespace: chebi_ontology def: "A glycerophosphocholine that is an alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 34 carbons and 0 double bonds." [] subset: 3_STAR synonym: "GPCho(O-34:0)" RELATED [SUBMITTER] synonym: "PC O-34:0" RELATED [SUBMITTER] synonym: "PC(O-34:0)" RELATED [SUBMITTER] synonym: "phosphatidylcholine(O-34:0)" RELATED [SUBMITTER] is_a: CHEBI:36313 ! glycerophosphocholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C42H86NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "748.10850" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "747.61419" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](CO[*])(COP([O-])(=O)OCC[N+](C)(C)C)O[*]" xsd:string [Term] id: CHEBI:67082 name: phosphatidylcholine O-44:6 namespace: chebi_ontology def: "A glycerophosphocholine that is an alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 44 carbons and 6 double bonds." [] subset: 3_STAR synonym: "GPCho(O-44:6)" RELATED [SUBMITTER] synonym: "PC O-44:6" RELATED [SUBMITTER] synonym: "PC(O-44:6)" RELATED [SUBMITTER] synonym: "phosphatidylcholine(O-44:6)" RELATED [SUBMITTER] is_a: CHEBI:36313 ! glycerophosphocholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C52H94NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "875.67675" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "875.67679" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](CO[*])(COP([O-])(=O)OCC[N+](C)(C)C)O[*]" xsd:string [Term] id: CHEBI:67083 name: phosphatidylcholine O-44:5 namespace: chebi_ontology def: "A glycerophosphocholine that is an alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 44 carbons and 5 double bonds." [] subset: 3_STAR synonym: "GPCho(O-44:5)" RELATED [SUBMITTER] synonym: "PC O-44:5" RELATED [SUBMITTER] synonym: "PC(O-44:5)" RELATED [SUBMITTER] synonym: "phosphatidylcholine(O-44:5)" RELATED [SUBMITTER] is_a: CHEBI:36313 ! glycerophosphocholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C52H96NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "877.69240" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "877.69244" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](CO[*])(COP([O-])(=O)OCC[N+](C)(C)C)O[*]" xsd:string [Term] id: CHEBI:67084 name: phosphatidylcholine O-44:4 namespace: chebi_ontology def: "A glycerophosphocholine that is an alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 44 carbons and 4 double bonds." [] subset: 3_STAR synonym: "GPCho(O-44:4)" RELATED [SUBMITTER] synonym: "PC O-44:4" RELATED [SUBMITTER] synonym: "PC(O-44:4)" RELATED [SUBMITTER] synonym: "phosphatidylcholine(O-44:4)" RELATED [SUBMITTER] is_a: CHEBI:36313 ! glycerophosphocholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C52H98NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "879.70805" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "879.70809" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](CO[*])(COP([O-])(=O)OCC[N+](C)(C)C)O[*]" xsd:string [Term] id: CHEBI:67085 name: phosphatidylcholine O-44:3 namespace: chebi_ontology def: "A glycerophosphocholine that is an alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 44 carbons and 3 double bonds." [] subset: 3_STAR synonym: "GPCho(O-44:3)" RELATED [SUBMITTER] synonym: "PC O-44:3" RELATED [SUBMITTER] synonym: "PC(O-44:3)" RELATED [SUBMITTER] synonym: "phosphatidylcholine(O-44:3)" RELATED [SUBMITTER] is_a: CHEBI:36313 ! glycerophosphocholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C52H100NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "881.72370" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "881.72374" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](CO[*])(COP([O-])(=O)OCC[N+](C)(C)C)O[*]" xsd:string [Term] id: CHEBI:67194 name: cannabinoid namespace: chebi_ontology def: "A diverse group of pharmacologically active secondary metabolite characteristic to Cannabis plant as well as produced naturally in the body by humans and animals. Cannabinoids contain oxygen as a part of the heterocyclic ring or in the form of various functional groups. They are subdivided on the basis of their origin." [] subset: 3_STAR synonym: "cannabinoids" RELATED [ChEBI] xref: PMID:22234284 {source="Europe PMC"} xref: PMID:22530636 {source="Europe PMC"} xref: PMID:22555283 {source="Europe PMC"} xref: Wikipedia:Cannabinoid is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:67249 name: N-acetylcarnosine namespace: chebi_ontology def: "A dipeptide that is the N-acetyl derivative of carnosine." [] subset: 3_STAR synonym: "(2S)-2-{[3-(acetylamino)propanoyl]amino}-3-(1H-imidazol-5-yl)propanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "N-acetyl-beta-alanyl-L-histidine" EXACT IUPAC_NAME [IUPAC] synonym: "N-acetyl-L-carnosine" RELATED [ChEBI] xref: CAS:56353-15-2 {source="ChemIDplus"} xref: PMID:22770225 {source="Europe PMC"} xref: Reaxys:10454928 {source="Reaxys"} xref: Wikipedia:Acetylcarnosine is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C11H16N4O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C11H16N4O4/c1-7(16)13-3-2-10(17)15-9(11(18)19)4-8-5-12-6-14-8/h5-6,9H,2-4H2,1H3,(H,12,14)(H,13,16)(H,15,17)(H,18,19)/t9-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BKAYIFDRRZZKNF-VIFPVBQESA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "268.26910" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "268.11716" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(=O)NCCC(=O)N[C@@H](Cc1cnc[nH]1)C(O)=O" xsd:string [Term] id: CHEBI:6775 name: mesalamine namespace: chebi_ontology def: "A monohydroxybenzoic acid that is salicylic acid substituted by an amino group at the 5-position." [] subset: 3_STAR synonym: "3-carboxy-4-hydroxyaniline" RELATED [ChEBI] synonym: "5-amino-2-hydroxybenzoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "5-Aminosalicylic acid" RELATED [ChemIDplus] synonym: "5-ASA" RELATED [ChemIDplus] synonym: "Asacol" RELATED BRAND_NAME [KEGG_DRUG] synonym: "Asacolitin" RELATED BRAND_NAME [DrugBank] synonym: "Canasa" RELATED BRAND_NAME [DrugBank] synonym: "Claversal" RELATED BRAND_NAME [DrugBank] synonym: "Fisalamine" RELATED BRAND_NAME [DrugBank] synonym: "Iialda" RELATED BRAND_NAME [KEGG_DRUG] synonym: "Lixacol" RELATED BRAND_NAME [DrugBank] synonym: "m-Aminosalicylic acid" RELATED [ChemIDplus] synonym: "mesalazina" RELATED INN [WHO_MedNet] synonym: "Mesalazine" RELATED [KEGG_DRUG] synonym: "mesalazine" RELATED INN [WHO_MedNet] synonym: "mesalazine" RELATED INN [DrugBank] synonym: "mesalazinum" RELATED INN [WHO_MedNet] synonym: "Mesasal" RELATED BRAND_NAME [DrugBank] synonym: "p-Aminosalicylsaeure" RELATED [ChEBI] synonym: "Pentasa" RELATED BRAND_NAME [KEGG_DRUG] synonym: "Rowasa" RELATED BRAND_NAME [KEGG_DRUG] synonym: "Salofalk" RELATED BRAND_NAME [DrugBank] xref: Beilstein:2090421 {source="Beilstein"} xref: CAS:89-57-6 {source="ChemIDplus"} xref: ChEMBL:133202 xref: Drug_Central:1710 {source="DrugCentral"} xref: DrugBank:DB00244 xref: HMDB:HMDB0014389 xref: KEGG DRUG:D00377 xref: KEGG:D00377 xref: LINCS:LSM-5427 xref: MeSH:D019804 xref: MetaCyc:CPD-12711 xref: NCIt:C29249 xref: PMID:10648473 {source="Europe PMC"} xref: PMID:22304735 {source="Europe PMC"} xref: PMID:22648999 {source="Europe PMC"} xref: PMID:23137838 {source="Europe PMC"} xref: PMID:23146664 {source="Europe PMC"} xref: PMID:23302220 {source="Europe PMC"} xref: PMID:28166217 {source="Europe PMC"} xref: Reaxys:2090421 {source="Reaxys"} xref: SNOMEDCT:86977007 xref: Wikipedia:Mesalamine is_a: CHEBI:33709 ! amino acid is_a: CHEBI:33853 ! phenols is_a: EFO:0004417 ! amide relationship: has_role CHEBI:35472 ! anti-inflammatory drug property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H7NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H7NO3/c8-4-1-2-6(9)5(3-4)7(10)11/h1-3,9H,8H2,(H,10,11)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KBOPZPXVLCULAV-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "153.13540" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "153.04259" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Nc1ccc(O)c(c1)C(O)=O" xsd:string [Term] id: CHEBI:6801 name: metformin namespace: chebi_ontology def: "A member of the class of guanidines that is biguanide the carrying two methyl substituents at position 1." [] subset: 3_STAR synonym: "1,1-dimethylbiguanide" RELATED [ChemIDplus] synonym: "dimethylbiguanide" RELATED [ChemIDplus] synonym: "dimethyldiguanide" RELATED [ChemIDplus] synonym: "LA 6023" RELATED [DrugBank] synonym: "LA-6023" RELATED [ChemIDplus] synonym: "metformin" RELATED INN [WHO_MedNet] synonym: "metformina" RELATED INN [WHO_MedNet] synonym: "metformine" RELATED INN [WHO_MedNet] synonym: "metforminum" RELATED INN [WHO_MedNet] synonym: "N(1),N(1)-dimethylbiguanide" RELATED [ChemIDplus] synonym: "N,N-dimethylbiguanide" RELATED [ChemIDplus] synonym: "N,N-dimethyldiguanide" RELATED [ChemIDplus] synonym: "N,N-dimethylguanylguanidine" RELATED [DrugCentral] synonym: "N,N-dimethylimidodicarbonimidic diamide" RELATED [IUPAC] synonym: "N,N-dimethyltriimidodicarbonic diamide" EXACT IUPAC_NAME [IUPAC] xref: CAS:657-24-9 {source="ChemIDplus"} xref: CAS:657-24-9 {source="KEGG COMPOUND"} xref: ChemIDplus:657-24-9 xref: Drug_Central:1725 {source="DrugCentral"} xref: DrugBank:DB00331 xref: FooDB:FDB022739 xref: HMDB:HMDB0001921 xref: KEGG COMPOUND:657-24-9 xref: KEGG COMPOUND:C07151 xref: KEGG:C07151 xref: KEGG:D04966 xref: LINCS:LSM-4730 xref: MeSH:D008687 xref: NCIt:C61612 xref: PDBeChem:MF8 xref: PMID:10900588 {source="Europe PMC"} xref: PMID:10983737 {source="Europe PMC"} xref: PMID:10999803 {source="Europe PMC"} xref: PMID:11012555 {source="Europe PMC"} xref: PMID:11126815 {source="Europe PMC"} xref: PMID:11192132 {source="Europe PMC"} xref: PMID:11257323 {source="Europe PMC"} xref: PMID:11544610 {source="Europe PMC"} xref: PMID:11772907 {source="Europe PMC"} xref: PMID:12086935 {source="Europe PMC"} xref: PMID:12406042 {source="Europe PMC"} xref: PMID:12436333 {source="Europe PMC"} xref: PMID:12630933 {source="Europe PMC"} xref: PMID:12909816 {source="Europe PMC"} xref: PMID:15261814 {source="Europe PMC"} xref: PMID:15606381 {source="Europe PMC"} xref: PMID:15650645 {source="Europe PMC"} xref: PMID:15717887 {source="Europe PMC"} xref: PMID:15932841 {source="Europe PMC"} xref: PMID:16294070 {source="Europe PMC"} xref: PMID:16520442 {source="Europe PMC"} xref: PMID:16941277 {source="Europe PMC"} xref: PMID:17062558 {source="Europe PMC"} xref: PMID:18212742 {source="Europe PMC"} xref: PMID:18608522 {source="Europe PMC"} xref: PMID:23077661 {source="Europe PMC"} xref: PMID:23540700 {source="Europe PMC"} xref: PMID:24428821 {source="Europe PMC"} xref: PMID:28919040 {source="Europe PMC"} xref: PMID:31208831 {source="Europe PMC"} xref: PMID:33191721 {source="Europe PMC"} xref: Reaxys:606492 {source="Reaxys"} xref: SNOMEDCT:109081006 xref: SNOMEDCT:372567009 xref: Wikipedia:Metformin is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:35526 ! hypoglycemic agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H11N5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H11N5/c1-9(2)4(7)8-3(5)6/h1-2H3,(H5,5,6,7,8)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XZWYZXLIPXDOLR-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "129.167" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "129.10145" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN(C)C(=N)NC(N)=N" xsd:string [Term] id: CHEBI:6809 name: methamphetamine namespace: chebi_ontology def: "A member of the class of amphetamines in which the amino group of (S)-amphetamine carries a methyl substituent." [] subset: 3_STAR synonym: "(+)-(S)-N-alpha-dimethylphenethylamine" RELATED [NIST_Chemistry_WebBook] synonym: "(2S)-N-methyl-1-phenylpropan-2-amine" EXACT IUPAC_NAME [IUPAC] synonym: "(alphaS)-N,alpha-dimethylbenzeneethanamine" RELATED [ChemIDplus] synonym: "(S)-N,alpha-dimethylbenzeneethanamine" RELATED [ChemIDplus] synonym: "d-1-phenyl-2-methylaminopropane" RELATED [ChemIDplus] synonym: "d-deoxyephedrine" RELATED [ChemIDplus] synonym: "d-desoxyephedrine" RELATED [ChemIDplus] synonym: "d-N-methylamphetamine" RELATED [ChemIDplus] synonym: "d-phenylisopropylmethylamine" RELATED [ChemIDplus] synonym: "dextromethamphetamine" RELATED [ChEBI] synonym: "metamfetamine" RELATED INN [WHO_MedNet] synonym: "metamfetaminum" RELATED INN [WHO_MedNet] synonym: "metanfetamina" RELATED INN [WHO_MedNet] synonym: "Methamphetamine" EXACT [KEGG_COMPOUND] synonym: "methyl-beta-phenylisopropylamine" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:2207147 {source="Beilstein"} xref: CAS:537-46-2 {source="NIST Chemistry WebBook"} xref: CAS:537-46-2 {source="KEGG COMPOUND"} xref: CAS:537-46-2 {source="ChemIDplus"} xref: ChEMBL:775152 xref: ChemIDplus:537-46-2 xref: Drug_Central:1732 {source="DrugCentral"} xref: DrugBank:DB01577 xref: HMDB:HMDB0015517 xref: KEGG COMPOUND:537-46-2 xref: KEGG COMPOUND:C07164 xref: KEGG:C07164 xref: KEGG:D08187 xref: MeSH:D008694 xref: NCIt:C61840 xref: NIST Chemistry WebBook:537-46-2 xref: PDBeChem:B40 xref: PMID:11221576 {source="Europe PMC"} xref: PMID:11406298 {source="Europe PMC"} xref: PMID:11711870 {source="Europe PMC"} xref: PMID:11717374 {source="Europe PMC"} xref: PMID:11829406 {source="Europe PMC"} xref: PMID:11831503 {source="Europe PMC"} xref: PMID:11847428 {source="Europe PMC"} xref: PMID:11896153 {source="Europe PMC"} xref: PMID:11984857 {source="Europe PMC"} xref: PMID:14645148 {source="Europe PMC"} xref: PMID:14769818 {source="Europe PMC"} xref: PMID:15380623 {source="Europe PMC"} xref: PMID:15542724 {source="Europe PMC"} xref: PMID:15542728 {source="Europe PMC"} xref: PMID:15808793 {source="Europe PMC"} xref: PMID:18279499 {source="Europe PMC"} xref: PMID:18509037 {source="Europe PMC"} xref: PMID:18521756 {source="Europe PMC"} xref: PMID:18991860 {source="Europe PMC"} xref: PMID:18991862 {source="Europe PMC"} xref: PMID:19269222 {source="Europe PMC"} xref: PMID:19384581 {source="Europe PMC"} xref: PMID:19576287 {source="Europe PMC"} xref: PMID:19732271 {source="Europe PMC"} xref: PMID:24349338 {source="Europe PMC"} xref: PMID:25724762 {source="Europe PMC"} xref: PMID:26302754 {source="Europe PMC"} xref: PMID:26541330 {source="Europe PMC"} xref: PMID:26568405 {source="Europe PMC"} xref: PMID:26683901 {source="Europe PMC"} xref: PMID:26775284 {source="Europe PMC"} xref: PMID:26992824 {source="Europe PMC"} xref: PMID:27232669 {source="Europe PMC"} xref: Reaxys:2207147 {source="Reaxys"} xref: SNOMEDCT:387499002 xref: SNOMEDCT:8692006 xref: Wikipedia:Methamphetamine is_a: EFO:0004417 ! amide relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H15N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H15N/c1-9(11-2)8-10-6-4-3-5-7-10/h3-7,9,11H,8H2,1-2H3/t9-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "MYWUZJCMWCOHBA-VIFPVBQESA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "149.23284" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "149.12045" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN[C@@H](C)Cc1ccccc1" xsd:string [Term] id: CHEBI:6820 name: methapyrilene namespace: chebi_ontology def: "A member of the class of ethylenediamine derivatives that is ethylenediamine in which one of the nitrogens is substituted by two methyl groups, and the other nitrogen is substituted by a 2-pyridyl group and a (2-thienyl)methyl group." [] subset: 3_STAR synonym: "2-[[2-(dimethylamino)ethyl]-2-thenylamino]pyridine" RELATED [NIST_Chemistry_WebBook] synonym: "Histadyl" RELATED BRAND_NAME [DrugBank] synonym: "Histadyl" RELATED [NIST_Chemistry_WebBook] synonym: "Lullamin" RELATED BRAND_NAME [DrugBank] synonym: "Lullamin" RELATED [NIST_Chemistry_WebBook] synonym: "Methapyrilene" EXACT [KEGG_COMPOUND] synonym: "methypyrilene" RELATED [ChEBI] synonym: "N,N-dimethyl-N'-pyrid-2-yl-N'-2-thenylethylenediamine" RELATED [ChemIDplus] synonym: "N,N-dimethyl-N'-pyridin-2-yl-N'-(2-thienylmethyl)ethane-1,2-diamine" RELATED [IUPAC] synonym: "N,N-dimethyl-N'-pyridin-2-yl-N'-[(thiophen-2-yl)methyl]ethane-1,2-diamine" EXACT IUPAC_NAME [IUPAC] synonym: "N-(alpha-pyridyl)-N-(alpha-thenyl)-N',N'-dimethylethylenediamine" RELATED [NIST_Chemistry_WebBook] synonym: "Paradormalene" RELATED BRAND_NAME [DrugBank] synonym: "Pyrathyn" RELATED BRAND_NAME [DrugBank] synonym: "Pyrathyn" RELATED [ChemIDplus] synonym: "Pyrinistab" RELATED BRAND_NAME [DrugBank] synonym: "Pyrinistol" RELATED BRAND_NAME [DrugBank] synonym: "Rest-on" RELATED BRAND_NAME [DrugBank] synonym: "Restryl" RELATED BRAND_NAME [DrugBank] synonym: "Semikon" RELATED BRAND_NAME [DrugBank] synonym: "Sleepwell" RELATED BRAND_NAME [DrugBank] synonym: "Thenylene" RELATED BRAND_NAME [DrugBank] synonym: "thenylpyramine" RELATED [ChemIDplus] synonym: "Thionylan" RELATED BRAND_NAME [DrugBank] xref: Beilstein:220729 {source="Beilstein"} xref: CAS:91-80-5 {source="ChemIDplus"} xref: CAS:91-80-5 {source="NIST Chemistry WebBook"} xref: CAS:91-80-5 {source="KEGG COMPOUND"} xref: Drug_Central:1738 {source="DrugCentral"} xref: DrugBank:DB04819 xref: KEGG:C11114 xref: LINCS:LSM-5582 xref: MeSH:D008701 xref: NCIt:C81143 xref: Patent:US2581868 xref: PMID:11137066 {source="Europe PMC"} xref: PMID:22015589 {source="Europe PMC"} xref: PMID:24486436 {source="Europe PMC"} xref: Reaxys:220729 {source="Reaxys"} xref: SNOMEDCT:59338009 xref: Wikipedia:Methapyrilene is_a: CHEBI:24431 ! chemical entity relationship: has_role EFO:0004457 ! carcinogen role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C14H19N3S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C14H19N3S/c1-16(2)9-10-17(12-13-6-5-11-18-13)14-7-3-4-8-15-14/h3-8,11H,9-10,12H2,1-2H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HNJJXZKZRAWDPF-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "261.38688" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "261.12997" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN(C)CCN(Cc1cccs1)c1ccccn1" xsd:string [Term] id: CHEBI:6842 name: methoxychlor namespace: chebi_ontology subset: 3_STAR synonym: "1,1'-(2,2,2-trichloroethane-1,1-diyl)bis(4-methoxybenzene)" EXACT IUPAC_NAME [IUPAC] synonym: "1,1,1-trichloro-2,2-bis(p-anisyl)ethane" RELATED [NIST_Chemistry_WebBook] synonym: "1,1,1-trichloro-2,2-bis(p-methoxyphenyl)ethane" RELATED [NIST_Chemistry_WebBook] synonym: "1,1,1-trichloro-2,2-di(4-methoxyphenyl)ethane" RELATED [NIST_Chemistry_WebBook] synonym: "2,2-bis(p-anisyl)-1,1,1-trichloroethane" RELATED [ChemIDplus] synonym: "2,2-bis(p-methoxyphenyl)-1,1,1-trichloroethane" RELATED [ChemIDplus] synonym: "2,2-di(p-methoxyphenyl)-1,1,1-trichloroethane" RELATED [NIST_Chemistry_WebBook] synonym: "dimethoxy-DDT" RELATED [ChemIDplus] synonym: "methoxy-DDT" RELATED [ChemIDplus] synonym: "Methoxychlor" EXACT [KEGG_COMPOUND] synonym: "p,p'-methoxychlor" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:2057367 {source="ChemIDplus"} xref: CAS:72-43-5 {source="NIST Chemistry WebBook"} xref: CAS:72-43-5 {source="ChemIDplus"} xref: CAS:72-43-5 {source="KEGG COMPOUND"} xref: Gmelin:513417 {source="Gmelin"} xref: KEGG:C11043 xref: LINCS:LSM-37160 xref: MeSH:D008731 xref: NCIt:C16161 xref: NCIt:C16256 xref: PPDB:460 xref: SNOMEDCT:55202008 xref: VSDB:460 is_a: CHEBI:25705 ! organochlorine insecticide relationship: has_role CHEBI:24852 ! insecticide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C16H15Cl3O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C16H15Cl3O2/c1-20-13-7-3-11(4-8-13)15(16(17,18)19)12-5-9-14(21-2)10-6-12/h3-10,15H,1-2H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IAKOZHOLGAGEJT-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "345.64720" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "344.01376" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "COc1ccc(cc1)C(c1ccc(OC)cc1)C(Cl)(Cl)Cl" xsd:string [Term] id: CHEBI:68434 name: gamma-Glu-Ile namespace: chebi_ontology def: "A glutamyl-L-amino acid having L-isoleucine as the L-amino acid component." [] subset: 3_STAR synonym: "L-gamma-Glu-L-Ile" RELATED [ChEBI] synonym: "L-gamma-glutamyl-L-isoleucine" EXACT IUPAC_NAME [IUPAC] xref: HMDB:HMDB0011170 xref: PMID:22770225 {source="Europe PMC"} xref: Reaxys:6893501 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C11H20N2O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C11H20N2O5/c1-3-6(2)9(11(17)18)13-8(14)5-4-7(12)10(15)16/h6-7,9H,3-5,12H2,1-2H3,(H,13,14)(H,15,16)(H,17,18)/t6-,7-,9-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SNCKGJWJABDZHI-ZKWXMUAHSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "260.28690" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "260.13722" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC[C@H](C)[C@H](NC(=O)CC[C@H](N)C(O)=O)C(O)=O" xsd:string [Term] id: CHEBI:68443 name: 1-methylxanthine namespace: chebi_ontology def: "A monomethylxanthine having the methyl group located at the 1-position. It is a metabolite of caffeine in humans." [] subset: 3_STAR synonym: "1-methylxanthines" RELATED [ChEBI] is_a: CHEBI:24532 ! organic heterocyclic compound [Term] id: CHEBI:68503 name: 3-methyladipic acid namespace: chebi_ontology def: "An alpha,omega-dicarboxylic acid that is adipic acid substituted with a methyl group at position C-3." [] subset: 3_STAR synonym: "3-methylhexanedioic acid" EXACT IUPAC_NAME [IUPAC] xref: CAS:3058-01-3 {source="ChemIDplus"} xref: HMDB:HMDB0000555 xref: PMID:22770225 {source="Europe PMC"} xref: Reaxys:1723870 {source="Reaxys"} is_a: CHEBI:18059 ! lipid is_a: EFO:0004416 ! acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H12O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H12O4/c1-5(4-7(10)11)2-3-6(8)9/h5H,2-4H2,1H3,(H,8,9)(H,10,11)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SYEOWUNSTUDKGM-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "160.16780" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "160.07356" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(CCC(O)=O)CC(O)=O" xsd:string [Term] id: CHEBI:68561 name: N-acetyltyrosine namespace: chebi_ontology def: "An N-acetyl-amino acid that is tyrosine with an amine hydrogen substituted by an acetyl group." [] subset: 3_STAR synonym: "2-(acetylamino)-3-(4-hydroxyphenyl)propanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "N-acetyl-4-hydroxyphenylalanine" RELATED [HMDB] synonym: "N-acetyl-DL-tyrosine" RELATED [ChEBI] synonym: "N-acetyltyrosine" EXACT IUPAC_NAME [IUPAC] xref: HMDB:HMDB0000866 xref: PMID:22770225 {source="Europe PMC"} xref: Reaxys:3206104 {source="Reaxys"} is_a: CHEBI:33853 ! phenols property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C11H13NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C11H13NO4/c1-7(13)12-10(11(15)16)6-8-2-4-9(14)5-3-8/h2-5,10,14H,6H2,1H3,(H,12,13)(H,15,16)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CAHKINHBCWCHCF-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "223.22520" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "223.08446" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(=O)NC(Cc1ccc(O)cc1)C(O)=O" xsd:string [Term] id: CHEBI:68568 name: O-adipoylcarnitine namespace: chebi_ontology def: "An O-acylcarnitine compound having adipoyl as the acyl substituent." [] subset: 3_STAR synonym: "3-[(5-carboxypentanoyl)oxy]-4-(trimethylammonio)butanoate" RELATED [IUPAC] synonym: "3-[(5-carboxypentanoyl)oxy]-4-(trimethylazaniumyl)butanoate" EXACT IUPAC_NAME [IUPAC] xref: PMID:22770225 {source="Europe PMC"} xref: PMID:23315938 {source="Europe PMC"} xref: Reaxys:14657154 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C13H23NO6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C13H23NO6/c1-14(2,3)9-10(8-12(17)18)20-13(19)7-5-4-6-11(15)16/h10H,4-9H2,1-3H3,(H-,15,16,17,18)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BSVHAXJKBCWVDA-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "289.32480" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "289.15254" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[N+](C)(C)CC(CC([O-])=O)OC(=O)CCCCC(O)=O" xsd:string [Term] id: CHEBI:68616 name: N-cinnamoylglycine namespace: chebi_ontology def: "An N-acylglycine in which the acyl group is specified as (2E)-3-phenylprop-2-enoyl (cinnamoyl)." [] subset: 3_STAR synonym: "N-(1-oxo-3-phenyl-2-propenyl)-Glycine" RELATED [ChemIDplus] synonym: "N-[(2E)-3-phenylprop-2-enoyl]glycine" EXACT IUPAC_NAME [IUPAC] synonym: "N-Cinnamylglycine" RELATED [HMDB] xref: CAS:16534-24-0 {source="ChemIDplus"} xref: HMDB:HMDB0011621 xref: PMID:22770225 {source="Europe PMC"} xref: Reaxys:3201590 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C11H11NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C11H11NO3/c13-10(12-8-11(14)15)7-6-9-4-2-1-3-5-9/h1-7H,8H2,(H,12,13)(H,14,15)/b7-6+" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YAADMLWHGMUGQL-VOTSOKGWSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "205.20990" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "205.07389" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)CNC(=O)\\C=C\\c1ccccc1" xsd:string [Term] id: CHEBI:68641 name: (-)-cotinine namespace: chebi_ontology def: "An N-alkylpyrrolidine that consists of N-methylpyrrolidinone bearing a pyridin-3-yl substituent at position C-5 (the 5S-enantiomer). It is an alkaloid commonly found in Nicotiana tabacum." [] subset: 3_STAR synonym: "(5S)-1-methyl-5-(pyridin-3-yl)pyrrolidin-2-one" EXACT IUPAC_NAME [IUPAC] synonym: "(S)-(-)-Cotinine" RELATED [ChemIDplus] synonym: "(S)-1-Methyl-5-(3-pyridinyl)-2-pyrrolidinone" RELATED [ChemIDplus] synonym: "(S)-Cotinine" RELATED [ChemIDplus] synonym: "cotinina" RELATED INN [ChemIDplus] synonym: "cotinine" RELATED [ChEBI] synonym: "cotinine" RELATED INN [ChemIDplus] synonym: "cotininum" RELATED INN [ChemIDplus] xref: CAS:486-56-6 {source="ChemIDplus"} xref: Drug_Central:737 {source="DrugCentral"} xref: HMDB:HMDB0001046 xref: KNApSAcK:C00034470 xref: LINCS:LSM-5986 xref: MetaCyc:CPD-2742 xref: PMID:14700346 {source="Europe PMC"} xref: PMID:21655912 {source="Europe PMC"} xref: PMID:21953524 {source="Europe PMC"} xref: PMID:22027507 {source="Europe PMC"} xref: PMID:22137886 {source="Europe PMC"} xref: PMID:22169225 {source="Europe PMC"} xref: PMID:22180597 {source="Europe PMC"} xref: PMID:22200307 {source="Europe PMC"} xref: PMID:22244928 {source="Europe PMC"} xref: PMID:22253001 {source="Europe PMC"} xref: PMID:22434216 {source="Europe PMC"} xref: PMID:22460317 {source="Europe PMC"} xref: PMID:22487419 {source="Europe PMC"} xref: PMID:22489581 {source="Europe PMC"} xref: PMID:22574797 {source="Europe PMC"} xref: PMID:22608097 {source="Europe PMC"} xref: PMID:22678157 {source="Europe PMC"} xref: PMID:22687995 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: PMID:22809871 {source="Europe PMC"} xref: PMID:22871902 {source="Europe PMC"} xref: PMID:22878732 {source="Europe PMC"} xref: PMID:22899265 {source="Europe PMC"} xref: PMID:22919158 {source="Europe PMC"} xref: PMID:23000417 {source="Europe PMC"} xref: PMID:23011941 {source="Europe PMC"} xref: PMID:23087643 {source="Europe PMC"} xref: Reaxys:5736575 {source="Reaxys"} xref: Reaxys:83099 {source="Reaxys"} xref: Wikipedia:Cotinine is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H12N2O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H12N2O/c1-12-9(4-5-10(12)13)8-3-2-6-11-7-8/h2-3,6-7,9H,4-5H2,1H3/t9-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UIKROCXWUNQSPJ-VIFPVBQESA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "176.21510" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "176.09496" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]1(CCC(=O)N1C)c1cccnc1" xsd:string [Term] id: CHEBI:68848 name: gamma-Glu-Val namespace: chebi_ontology def: "A glutamyl-L-amino acid that is the N-(L-gamma-glutamyl) derivative of L-leucine." [] subset: 3_STAR synonym: "(2S)-2-amino-5-{[(1S)-1-carboxy-2-methylpropyl]amino}-5-oxopentanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "gamma-Glutamylvaline" RELATED [HMDB] synonym: "L-gamma-Glu-L-Val" RELATED [ChEBI] synonym: "L-gamma-glutamyl-L-valine" EXACT IUPAC_NAME [IUPAC] xref: HMDB:HMDB0011172 xref: PMID:22770225 {source="Europe PMC"} xref: Reaxys:1714841 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H18N2O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H18N2O5/c1-5(2)8(10(16)17)12-7(13)4-3-6(11)9(14)15/h5-6,8H,3-4,11H2,1-2H3,(H,12,13)(H,14,15)(H,16,17)/t6-,8-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "AQAKHZVPOOGUCK-XPUUQOCRSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "246.26030" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "246.12157" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)[C@H](NC(=O)CC[C@H](N)C(O)=O)C(O)=O" xsd:string [Term] id: CHEBI:6888 name: 6alpha-methylprednisolone namespace: chebi_ontology def: "The 6alpha-stereoisomer of 6-methylprednisolone." [] subset: 3_STAR synonym: "(6alpha,11beta)-11,17,21-trihydroxy-6-methylpregna-1,4-diene-3,20-dione" RELATED [NIST_Chemistry_WebBook] synonym: "1-dehydro-6alpha-methylhydrocortisone" RELATED [ChemIDplus] synonym: "11beta,17,21-trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione" EXACT IUPAC_NAME [IUPAC] synonym: "6alpha-methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione" RELATED [ChemIDplus] synonym: "Delta(1)-6alpha-methylhydrocortisone" RELATED [NIST_Chemistry_WebBook] synonym: "Medrate" RELATED BRAND_NAME [ChemIDplus] synonym: "Medrol" RELATED BRAND_NAME [KEGG_DRUG] synonym: "Medrone" RELATED BRAND_NAME [DrugBank] synonym: "Methylprednisolon" RELATED [ChEBI] synonym: "methylprednisolone" RELATED INN [KEGG_DRUG] synonym: "methylprednisolonum" RELATED INN [ChemIDplus] synonym: "metilprednisolona" RELATED INN [ChemIDplus] synonym: "Solomet" RELATED BRAND_NAME [DrugBank] synonym: "Urbason" RELATED BRAND_NAME [DrugBank] xref: Beilstein:2340300 {source="Beilstein"} xref: CAS:83-43-2 {source="ChemIDplus"} xref: CAS:83-43-2 {source="NIST Chemistry WebBook"} xref: ChEMBL:127575 xref: ChemIDplus:83-43-2 xref: Drug_Central:1768 {source="DrugCentral"} xref: DrugBank:DB00959 xref: HMDB:HMDB0015094 xref: KEGG DRUG:D00407 xref: KEGG:D00407 xref: MeSH:D008775 xref: NCIt:C647 xref: NIST Chemistry WebBook:83-43-2 xref: Patent:US2897218 xref: Patent:US3053832 xref: PMID:25232411 {source="Europe PMC"} xref: Reaxys:2340300 {source="Reaxys"} xref: SNOMEDCT:116593003 xref: VSDB:1936 xref: Wikipedia:Methylprednisolone is_a: CHEBI:35341 ! steroid relationship: has_role CHEBI:35472 ! anti-inflammatory drug property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H30O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C22H30O5/c1-12-8-14-15-5-7-22(27,18(26)11-23)21(15,3)10-17(25)19(14)20(2)6-4-13(24)9-16(12)20/h4,6,9,12,14-15,17,19,23,25,27H,5,7-8,10-11H2,1-3H3/t12-,14-,15-,17-,19+,20-,21-,22-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VHRSUDSXCMQTMA-PJHHCJLFSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "374.47060" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "374.20932" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[C@H]1C[C@H]2[C@@H]3CC[C@](O)(C(=O)CO)[C@@]3(C)C[C@H](O)[C@@H]2[C@@]2(C)C=CC(=O)C=C12" xsd:string [Term] id: CHEBI:6904 name: metoprolol namespace: chebi_ontology def: "A propanolamine that is 1-(propan-2-ylamino)propan-2-ol substituted by a 4-(2-methoxyethyl)phenoxy group at position 1." [] subset: 3_STAR synonym: "(RS)-Metoprolol" RELATED [ChemIDplus] synonym: "1-(isopropylamino)-3-[4-(2-methoxyethyl)phenoxy]propan-2-ol" RELATED [ChEBI] synonym: "1-[4-(2-methoxyethyl)phenoxy]-3-(propan-2-ylamino)propan-2-ol" EXACT IUPAC_NAME [IUPAC] synonym: "Metoprolol" EXACT [KEGG_COMPOUND] synonym: "Metoprolol" EXACT [KEGG_DRUG] xref: CAS:37350-58-6 {source="ChemIDplus"} xref: CAS:37350-58-6 {source="KEGG COMPOUND"} xref: CAS:51384-51-1 {source="KEGG COMPOUND"} xref: CAS:51384-51-1 {source="ChemIDplus"} xref: Drug_Central:1786 {source="DrugCentral"} xref: DrugBank:DB00264 xref: HMDB:HMDB0001932 xref: KEGG:C07202 xref: KEGG:D02358 xref: LINCS:LSM-1259 xref: MeSH:D008790 xref: NCIt:C61845 xref: PMID:15140634 {source="Europe PMC"} xref: PMID:15797646 {source="Europe PMC"} xref: PMID:23314750 {source="Europe PMC"} xref: PMID:24025984 {source="Europe PMC"} xref: Reaxys:1117585 {source="Reaxys"} xref: SNOMEDCT:372826007 xref: SNOMEDCT:7092007 xref: Wikipedia:Metoprolol is_a: CHEBI:24431 ! chemical entity relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C15H25NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C15H25NO3/c1-12(2)16-10-14(17)11-19-15-6-4-13(5-7-15)8-9-18-3/h4-7,12,14,16-17H,8-11H2,1-3H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IUBSYMUCCVWXPE-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "267.36394" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "267.18344" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "COCCc1ccc(OCC(O)CNC(C)C)cc1" xsd:string [Term] id: CHEBI:6909 name: metronidazole namespace: chebi_ontology alt_id: CHEBI:39845 alt_id: CHEBI:63636 def: "A member of the class of imidazoles substituted at C-1, -2 and -5 with 2-hydroxyethyl, nitro and methyl groups respectively. It has activity against anaerobic bacteria and protozoa, and has a radiosensitising effect on hypoxic tumour cells. It may be given by mouth in tablets, or as the benzoate in an oral suspension. The hydrochloride salt can be used in intravenous infusions. Metronidazole is a prodrug and is selective for anaerobic bacteria due to their ability to intracellularly reduce the nitro group of metronidazole to give nitroso-containing intermediates. These can covalently bind to DNA, disrupting its helical structure, inducing DNA strand breaks and inhibiting bacterial nucleic acid synthesis, ultimately resulting in bacterial cell death." [] subset: 3_STAR synonym: "1-(2-hydroxy-1-ethyl)-2-methyl-5-nitroimidazole" RELATED [ChemIDplus] synonym: "1-(2-hydroxyethyl)-2-methyl-5-nitroimidazole" RELATED [ChemIDplus] synonym: "1-(beta-ethylol)-2-methyl-5-nitro-3-azapyrrole" RELATED [NIST_Chemistry_WebBook] synonym: "1-(beta-hydroxyethyl)-2-methyl-5-nitroimidazole" RELATED [ChemIDplus] synonym: "1-(beta-oxyethyl)-2-methyl-5-nitroimidazole" RELATED [ChemIDplus] synonym: "2-(2-methyl-5-nitro-1H-imidazol-1-yl)ethanol" EXACT IUPAC_NAME [IUPAC] synonym: "2-methyl-1-(2-hydroxyethyl)-5-nitroimidazole" RELATED [ChemIDplus] synonym: "2-methyl-3-(2-hydroxyethyl)-4-nitroimidazole" RELATED [ChemIDplus] synonym: "2-methyl-5-nitroimidazole-1-ethanol" RELATED [ChemIDplus] synonym: "metronidazol" RELATED INN [WHO_MedNet] synonym: "metronidazole" RELATED INN [KEGG_DRUG] synonym: "metronidazole" RELATED INN [WHO_MedNet] synonym: "metronidazolum" RELATED INN [WHO_MedNet] xref: Beilstein:611683 {source="Beilstein"} xref: CAS:443-48-1 {source="ChemIDplus"} xref: CAS:443-48-1 {source="NIST Chemistry WebBook"} xref: Drug_Central:1790 {source="DrugCentral"} xref: DrugBank:DB00916 xref: HMDB:HMDB0015052 xref: KEGG:D00409 xref: LINCS:LSM-5628 xref: Patent:US2944061 xref: PDBeChem:2MN xref: PMID:11906111 {source="Europe PMC"} xref: PMID:14702395 {source="Europe PMC"} xref: PMID:15739364 {source="Europe PMC"} xref: PMID:16304169 {source="Europe PMC"} xref: PMID:16901452 {source="Europe PMC"} xref: PMID:18397330 {source="Europe PMC"} xref: PMID:19485831 {source="Europe PMC"} xref: PMID:22226009 {source="Europe PMC"} xref: PMID:22252819 {source="Europe PMC"} xref: Reaxys:611683 {source="Reaxys"} xref: VSDB:1826 xref: Wikipedia:Metronidazole is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H9N3O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H9N3O3/c1-5-7-4-6(9(11)12)8(5)2-3-10/h4,10H,2-3H2,1H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VAOCPAMSLUNLGC-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "171.15400" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "171.06439" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cc1ncc(n1CCO)[N+]([O-])=O" xsd:string [Term] id: CHEBI:6912 name: alpha-methyl-L-tyrosine namespace: chebi_ontology def: "An L-tyrosine derivative that consists of L-tyrosine bearing an additional methyl substituent at position 2. An inhibitor of the enzyme tyrosine 3-monooxygenase, and consequently of the synthesis of catecholamines. It is used to control the symptoms of excessive sympathetic stimulation in patients with pheochromocytoma." [] subset: 3_STAR synonym: "(-)-alpha-Methyl-L-tyrosine" RELATED [ChemIDplus] synonym: "(S)-alpha-Methyltyrosine" RELATED [ChemIDplus] synonym: "alpha-methyl-L-p-tyrosine" RELATED [ChEBI] synonym: "alpha-methyl-L-tyrosine" EXACT IUPAC_NAME [IUPAC] synonym: "alpha-methyl-p-tyrosine" RELATED [ChEBI] synonym: "alpha-methyl-para-tyrosine" RELATED [ChEBI] synonym: "alpha-Methyltyrosine" RELATED [ChemIDplus] synonym: "L-alpha-Methyltyrosine" RELATED [ChemIDplus] synonym: "Methyltyrosine" RELATED [DrugBank] synonym: "metirosina" RELATED INN [ChemIDplus] synonym: "metirosine" RELATED INN [KEGG_DRUG] synonym: "metirosinum" RELATED INN [ChemIDplus] synonym: "Metyrosine" RELATED [KEGG_COMPOUND] xref: CAS:672-87-7 {source="KEGG COMPOUND"} xref: CAS:672-87-7 {source="ChemIDplus"} xref: Drug_Central:1792 {source="DrugCentral"} xref: DrugBank:DB00765 xref: KEGG:C07921 xref: KEGG:D00762 xref: Patent:US2011104765 xref: PMID:28716505 {source="Europe PMC"} xref: PMID:29353821 {source="Europe PMC"} xref: PMID:29438107 {source="Europe PMC"} xref: PMID:29668781 {source="Europe PMC"} xref: Reaxys:2368400 {source="Reaxys"} xref: Wikipedia:Metirosine is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H13NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H13NO3/c1-10(11,9(13)14)6-7-2-4-8(12)5-3-7/h2-5,12H,6,11H2,1H3,(H,13,14)/t10-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NHTGHBARYWONDQ-JTQLQIEISA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "195.21510" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "195.08954" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[C@](N)(Cc1ccc(O)cc1)C(O)=O" xsd:string [Term] id: CHEBI:6916 name: mexiletine namespace: chebi_ontology alt_id: CHEBI:115958 def: "An aromatic ether which is 2,6-dimethylphenyl ether of 2-aminopropan-1-ol." [] subset: 3_STAR synonym: "(+-)-1-(2,6-dimethylphenoxy)propan-2-amine" RELATED [ChEBI] synonym: "(2RS)-1-(2,6-dimethylphenoxy)-2-aminopropane" RELATED [ChEBI] synonym: "1-(2',6'-dimethylphenoxy)-2-aminopropane" RELATED [NIST_Chemistry_WebBook] synonym: "1-(2,6-dimethylphenoxy)-2-propanamine" RELATED [NIST_Chemistry_WebBook] synonym: "1-(2,6-dimethylphenoxy)propan-2-amine" EXACT IUPAC_NAME [IUPAC] synonym: "1-methyl-2-(2,6-xylyloxy)ethanamine" RELATED [NIST_Chemistry_WebBook] synonym: "mexiletina" RELATED INN [ChemIDplus] synonym: "Mexiletine" EXACT [KEGG_COMPOUND] synonym: "mexiletine" RELATED INN [ChemIDplus] synonym: "mexiletinum" RELATED INN [ChemIDplus] xref: CAS:31828-71-4 {source="KEGG COMPOUND"} xref: CAS:31828-71-4 {source="NIST Chemistry WebBook"} xref: CAS:31828-71-4 {source="ChemIDplus"} xref: Drug_Central:1794 {source="DrugCentral"} xref: DrugBank:DB00379 xref: HMDB:HMDB0014523 xref: KEGG:C07220 xref: KEGG:D08215 xref: LINCS:LSM-1700 xref: Patent:FR1551055 xref: Patent:US3954872 xref: PMID:10883344 {source="Europe PMC"} xref: PMID:11009230 {source="Europe PMC"} xref: Reaxys:2092205 {source="Reaxys"} xref: Wikipedia:Mexiletine is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C11H17NO" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C11H17NO/c1-8-5-4-6-9(2)11(8)13-7-10(3)12/h4-6,10H,7,12H2,1-3H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VLPIATFUUWWMKC-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "179.25880" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "179.13101" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(N)COc1c(C)cccc1C" xsd:string [Term] id: CHEBI:6923 name: miconazole namespace: chebi_ontology alt_id: CHEBI:108917 def: "A racemate composed of equimolar amounts of (R)- and (S)-miconazole. Used (as its nitrate salt) to treat skin infections such as athlete's foot, jock itch, ringworm and other fungal skin infections. It inhibits the synthesis of ergosterol, a critical component of fungal cell membranes." [] subset: 3_STAR synonym: "(+-)-miconazole" RELATED [ChEBI] synonym: "(RS)-miconazole" RELATED [ChEBI] synonym: "1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole" RELATED [ChemIDplus] synonym: "1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole" RELATED [ChEMBL] synonym: "Daktarin IV" RELATED [ChemIDplus] synonym: "Miconazole" EXACT [KEGG_DRUG] synonym: "Monistat IV (TN)" RELATED [KEGG_DRUG] synonym: "rac-1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole" EXACT IUPAC_NAME [IUPAC] synonym: "rac-miconazole" RELATED [ChEBI] xref: CAS:22916-47-8 {source="ChemIDplus"} xref: CAS:22916-47-8 {source="KEGG DRUG"} xref: DrugBank:DB01110 xref: KEGG:D00416 xref: MeSH:D008825 xref: NCIt:C62048 xref: PMID:11922774 {source="Europe PMC"} xref: PMID:15187422 {source="Europe PMC"} xref: PMID:15778703 {source="Europe PMC"} xref: PMID:16608920 {source="Europe PMC"} xref: PMID:24389479 {source="Europe PMC"} xref: PMID:24533891 {source="Europe PMC"} xref: PMID:24550099 {source="Europe PMC"} xref: PMID:24629000 {source="Europe PMC"} xref: PMID:24842191 {source="Europe PMC"} xref: PMID:24852893 {source="Europe PMC"} xref: PMID:24919490 {source="Europe PMC"} xref: PMID:25070654 {source="Europe PMC"} xref: PMID:25084742 {source="Europe PMC"} xref: PMID:25179092 {source="Europe PMC"} xref: PMID:8683405 {source="Europe PMC"} xref: Reaxys:965511 {source="Reaxys"} xref: SNOMEDCT:372738006 xref: SNOMEDCT:42720001 xref: Wikipedia:Miconazole is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:24127 ! fungicide [Term] id: CHEBI:6980 name: monocrotaline namespace: chebi_ontology subset: 3_STAR synonym: "(13-alpha,14-alpha)-14,19-Dihydro-12,13-dihydroxy-20-norcrotalanan-11,15-dione" RELATED [ChemIDplus] synonym: "(3R,4R,5R,13aR,13bR)-4,5-dihydroxy-3,4,5-trimethyl-4,5,8,10,12,13,13a,13b-octahydro-2H-[1,6]dioxacycloundecino[2,3,4-gh]pyrrolizine-2,6(3H)-dione" EXACT IUPAC_NAME [IUPAC] synonym: "Monocrotaline" EXACT [KEGG_COMPOUND] synonym: "Retronecine cyclic 2,3-dihydroxy-2,3,4-trimethylglutarate" RELATED [ChemIDplus] synonym: "Testosterone oenanthate" RELATED [ChemIDplus] xref: CAS:315-22-0 {source="ChemIDplus"} xref: CAS:315-22-0 {source="KEGG COMPOUND"} xref: KEGG:C10350 xref: KNApSAcK:C00002101 xref: LINCS:LSM-6637 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C16H23NO6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C16H23NO6/c1-9-13(18)23-11-5-7-17-6-4-10(12(11)17)8-22-14(19)16(3,21)15(9,2)20/h4,9,11-12,20-21H,5-8H2,1-3H3/t9-,11+,12+,15+,16-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QVCMHGGNRFRMAD-XFGHUUIASA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "325.35696" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "325.15254" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]12CCN3CC=C(COC(=O)[C@](C)(O)[C@](C)(O)[C@@H](C)C(=O)O1)[C@]23[H]" xsd:string [Term] id: CHEBI:7044 name: myoglobin namespace: chebi_ontology subset: 3_STAR synonym: "Myoglobin" EXACT [KEGG_COMPOUND] synonym: "vertebrate myoglobin" RELATED [COMe] xref: COMe:PRX000322 xref: KEGG:C05782 is_a: CHEBI:36080 ! protein [Term] id: CHEBI:70749 name: O-hexanoylcarnitine namespace: chebi_ontology def: "An O-acylcarnitine compound having hexanoyl as the acyl substituent." [] subset: 3_STAR synonym: "3-(hexanoyloxy)-4-(trimethylammonio)butanoate" RELATED [IUPAC] synonym: "3-(hexanoyloxy)-4-(trimethylazaniumyl)butanoate" EXACT IUPAC_NAME [IUPAC] synonym: "hexanoylcarnitine" RELATED [ChEBI] xref: CAS:6418-78-6 {source="HMDB"} xref: HMDB:HMDB0000705 xref: PMID:22770225 {source="Europe PMC"} xref: Reaxys:1883044 {source="Reaxys"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C13H25NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C13H25NO4/c1-5-6-7-8-13(17)18-11(9-12(15)16)10-14(2,3)4/h11H,5-10H2,1-4H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VVPRQWTYSNDTEA-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "259.342" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "259.17836" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(OC(CCCCC)=O)(C[N+](C)(C)C)CC(=O)[O-]" xsd:string [Term] id: CHEBI:70811 name: N-(indol-3-ylacetyl)glutamine namespace: chebi_ontology def: "A N(2)-acylglutamine that has indol-3-ylacetyl as the acyl group." [] subset: 3_STAR synonym: "3-IAA glutamine" RELATED [HMDB] synonym: "5-amino-2-[(1H-indol-3-ylacetyl)amino]-5-oxopentanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "indole-3-acetyl-glutamine" RELATED [ChEBI] synonym: "N(2)-(1H-indol-3-ylacetyl)glutamine" EXACT IUPAC_NAME [IUPAC] synonym: "N-indoleacetylglutamine" RELATED [ChEBI] xref: HMDB:HMDB0013240 xref: PMID:22770225 {source="Europe PMC"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C15H17N3O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C15H17N3O4/c16-13(19)6-5-12(15(21)22)18-14(20)7-9-8-17-11-4-2-1-3-10(9)11/h1-4,8,12,17H,5-7H2,(H2,16,19)(H,18,20)(H,21,22)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DVJIJAYHBZALOJ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "303.31320" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "303.12191" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NC(=O)CCC(NC(=O)Cc1c[nH]c2ccccc12)C(O)=O" xsd:string [Term] id: CHEBI:70857 name: O-3-methylglutarylcarnitine namespace: chebi_ontology def: "An O-methylglutarylcarnitine compound having 3-methylglutaryl as the acyl substituent." [] subset: 3_STAR synonym: "3-[(4-carboxy-3-methylbutanoyl)oxy]-4-(trimethylazaniumyl)butanoate" EXACT IUPAC_NAME [IUPAC] xref: HMDB:HMDB0000552 xref: PMID:22770225 {source="Europe PMC"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C13H23NO6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C13H23NO6/c1-9(5-11(15)16)6-13(19)20-10(7-12(17)18)8-14(2,3)4/h9-10H,5-8H2,1-4H3,(H-,15,16,17,18)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HFCPFJNSBPQJDP-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "289.32480" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "289.15254" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(CC(O)=O)CC(=O)OC(CC([O-])=O)C[N+](C)(C)C" xsd:string [Term] id: CHEBI:70958 name: 1-methylhistidine namespace: chebi_ontology def: "A methylhistidine in which the methyl group is located at N-1." [] subset: 3_STAR synonym: "1-methyl-DL-histidine" RELATED [ChEBI] synonym: "1-methylhistidine" EXACT IUPAC_NAME [IUPAC] synonym: "2-amino-3-(1-methyl-1H-imidazol-4-yl)propanoic acid" EXACT IUPAC_NAME [IUPAC] xref: PMID:22770225 {source="Europe PMC"} xref: Reaxys:611190 {source="Reaxys"} is_a: CHEBI:137682 ! methylhistidine is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H11N3O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H11N3O2/c1-10-3-5(9-4-10)2-6(8)7(11)12/h3-4,6H,2,8H2,1H3,(H,11,12)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BRMWTNUJHUMWMS-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "169.18110" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "169.08513" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cn1cnc(CC(N)C(O)=O)c1" xsd:string [Term] id: CHEBI:70959 name: 3-methylhistidine namespace: chebi_ontology def: "A methylhistidine in which the methyl group is located at N-3." [] subset: 3_STAR synonym: "2-amino-3-(1-methyl-1H-imidazol-5-yl)propanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "3-methyl-DL-histidine" RELATED [ChEBI] synonym: "3-methylhistidine" EXACT IUPAC_NAME [IUPAC] xref: PMID:22770225 {source="Europe PMC"} xref: PMID:24009031 {source="Europe PMC"} xref: PMID:24681531 {source="Europe PMC"} xref: Reaxys:83652 {source="Reaxys"} is_a: CHEBI:137682 ! methylhistidine is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H11N3O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H11N3O2/c1-10-4-9-3-5(10)2-6(8)7(11)12/h3-4,6H,2,8H2,1H3,(H,11,12)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JDHILDINMRGULE-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "169.18110" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "169.08513" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cn1cncc1CC(N)C(O)=O" xsd:string [Term] id: CHEBI:70979 name: N-isobutyrylglycine namespace: chebi_ontology def: "An N-acylglycine in which the acyl group is specified as isobutryl." [] subset: 3_STAR synonym: "[(2-methylpropanoyl)amino]acetic acid" EXACT IUPAC_NAME [IUPAC] synonym: "isobutanoylglycine" RELATED [ChEBI] synonym: "isobutyrylglycine" RELATED [HMDB] synonym: "N-(2-methylpropanoyl)glycine" EXACT IUPAC_NAME [IUPAC] synonym: "N-isobutanoylglycine" RELATED [ChEBI] xref: HMDB:HMDB0000730 xref: PMID:14723814 {source="Europe PMC"} xref: PMID:17712735 {source="Europe PMC"} xref: PMID:20528888 {source="Europe PMC"} xref: PMID:20836999 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: PMID:23062437 {source="Europe PMC"} xref: PMID:7360517 {source="Europe PMC"} xref: PMID:7408214 {source="Europe PMC"} xref: PMID:8548022 {source="Europe PMC"} xref: Reaxys:1762789 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H11NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H11NO3/c1-4(2)6(10)7-3-5(8)9/h4H,3H2,1-2H3,(H,7,10)(H,8,9)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DCICDMMXFIELDF-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "145.15640" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "145.07389" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)C(=O)NCC(O)=O" xsd:string [Term] id: CHEBI:70984 name: N-isovalerylglycine namespace: chebi_ontology def: "An N-acylglycine in which the acyl group is specified as isovaleryl." [] subset: 3_STAR synonym: "2-(3-Methylbutanoylamino)ethanoic acid" RELATED [HMDB] synonym: "[(3-methylbutanoyl)amino]acetic acid" EXACT IUPAC_NAME [IUPAC] synonym: "isopentanoylglycine" RELATED [ChEBI] synonym: "isovalerylglycine" RELATED [ChEBI] synonym: "N-(3-methylbutanoyl)glycine" EXACT IUPAC_NAME [IUPAC] synonym: "N-isopentanoylglycine" RELATED [ChEBI] synonym: "N-Isovaleroylglycine" RELATED [HMDB] xref: HMDB:HMDB0000678 xref: PMID:19368345 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: PMID:4636318 {source="Europe PMC"} xref: PMID:6027258 {source="Europe PMC"} xref: Reaxys:1766622 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H13NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H13NO3/c1-5(2)3-6(9)8-4-7(10)11/h5H,3-4H2,1-2H3,(H,8,9)(H,10,11)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ZRQXMKMBBMNNQC-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "159.18300" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "159.08954" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)CC(=O)NCC(O)=O" xsd:string [Term] id: CHEBI:71179 name: O-tiglylcarnitine namespace: chebi_ontology def: "An O-acylcarnitine compound having trans-2-methyl-2-butenoyl (tiglyl) as the acyl substituent." [] subset: 3_STAR synonym: "3-{[(2E)-2-methylbut-2-enoyl]oxy}-4-(trimethylammonio)butanoate" RELATED [IUPAC] synonym: "3-{[(2E)-2-methylbut-2-enoyl]oxy}-4-(trimethylazaniumyl)butanoate" EXACT IUPAC_NAME [IUPAC] synonym: "tiglylcarnitine" RELATED [ChEBI] xref: CAS:64191-86-2 {source="HMDB"} xref: HMDB:HMDB0002366 xref: PMID:14518824 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: PMID:23315938 {source="Europe PMC"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12H21NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C12H21NO4/c1-6-9(2)12(16)17-10(7-11(14)15)8-13(3,4)5/h6,10H,7-8H2,1-5H3/b9-6+" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WURBQCVBQNMUQT-RMKNXTFCSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "243.29940" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "243.14706" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C\\C=C(/C)C(=O)OC(CC([O-])=O)C[N+](C)(C)C" xsd:string [Term] id: CHEBI:71182 name: trans-3-hydroxycotinine namespace: chebi_ontology def: "An N-alkylpyrrolidine that is cotinine substituted at position C-3 by a hydroxy group (the 3R,5S-diastereomer)." [] subset: 3_STAR synonym: "(3R,5S)-3-hydroxy-1-methyl-5-(pyridin-3-yl)pyrrolidin-2-one" EXACT IUPAC_NAME [IUPAC] synonym: "(3R-trans)-3-hydroxy-1-methyl-5-(3-pyridinyl)-2-Pyrrolidinone" RELATED [HMDB] synonym: "3-Hydroxy-1-methyl-5-(3-pyridinyl)-2-pyrrolidinone" RELATED [HMDB] synonym: "Hydroxycotinine" RELATED [HMDB] synonym: "trans-3'-Hydroxycotinine" RELATED [HMDB] xref: CAS:34834-67-8 {source="ChemIDplus"} xref: HMDB:HMDB0001390 xref: MetaCyc:CPD-2750 xref: PMID:14680362 {source="Europe PMC"} xref: PMID:19838828 {source="Europe PMC"} xref: PMID:21208832 {source="Europe PMC"} xref: PMID:2131824 {source="Europe PMC"} xref: PMID:21689995 {source="Europe PMC"} xref: PMID:22014744 {source="Europe PMC"} xref: PMID:22228205 {source="Europe PMC"} xref: PMID:22394455 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: PMID:23313774 {source="Europe PMC"} xref: Reaxys:11561 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H12N2O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H12N2O2/c1-12-8(5-9(13)10(12)14)7-3-2-4-11-6-7/h2-4,6,8-9,13H,5H2,1H3/t8-,9+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XOKCJXZZNAUIQN-DTWKUNHWSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "192.21450" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "192.08988" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]1(C[C@@H](O)C(=O)N1C)c1cccnc1" xsd:string [Term] id: CHEBI:71201 name: xanthurenate namespace: chebi_ontology def: "A quinolinemonocarboxylate that is the conjugate base of xanthurenic acid, obtained by deprotonation of the carboxy group." [] subset: 3_STAR synonym: "4,8-dihydroxyquinoline-2-carboxylate" EXACT IUPAC_NAME [IUPAC] synonym: "xanthurenate" EXACT [UniProt] xref: HMDB:HMDB0000881 xref: KEGG:C02470 xref: MetaCyc:XANTHURENATE xref: PMID:22770225 {source="Europe PMC"} xref: Wikipedia:Xanthurenic_acid is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H6NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H7NO4/c12-7-3-1-2-5-8(13)4-6(10(14)15)11-9(5)7/h1-4,12H,(H,11,13)(H,14,15)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FBZONXHGGPHHIY-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "204.15890" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "204.03023" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Oc1cccc2c(O)cc(nc12)C([O-])=O" xsd:string [Term] id: CHEBI:71415 name: nitrofurantoin namespace: chebi_ontology alt_id: CHEBI:7591 def: "An imidazolidine-2,4-dione that is hydantoin substituted at position 1 by a [(5-nitro-2-furyl)methylene]amino group. An antibiotic that damages bacterial DNA." [] subset: 3_STAR synonym: "1-((5-Nitrofurfurylidene)amino)hydantoin" RELATED [ChemIDplus] synonym: "1-(5-Nitro-2-furfurylidenamino)hydantoin" RELATED [ChemIDplus] synonym: "1-(5-Nitro-2-furfurylideneamino)hydantoin" RELATED [ChemIDplus] synonym: "1-[(5-Nitrofurfurylidene)amino]hydantoin" RELATED [NIST_Chemistry_WebBook] synonym: "1-{[(5-nitro-2-furyl)methylene]amino}imidazolidine-2,4-dione" EXACT IUPAC_NAME [IUPAC] synonym: "5-Nitrofurantoin" RELATED [NIST_Chemistry_WebBook] synonym: "N-(5-Nitrofurfurylidene)-1-aminohydantoin" RELATED [ChemIDplus] synonym: "nitrofurantoin" RELATED INN [KEGG_DRUG] synonym: "nitrofurantoina" RELATED INN [ChemIDplus] synonym: "nitrofurantoine" RELATED INN [ChemIDplus] synonym: "nitrofurantoinum" RELATED INN [ChemIDplus] xref: CAS:67-20-9 {source="KEGG COMPOUND"} xref: CAS:67-20-9 {source="ChemIDplus"} xref: CAS:67-20-9 {source="NIST Chemistry WebBook"} xref: Drug_Central:1949 {source="DrugCentral"} xref: DrugBank:DB00698 xref: KEGG:C07268 xref: KEGG:D00439 xref: Patent:US2610181 xref: Patent:US2898335 xref: Patent:US2927110 xref: Patent:WO2006019844 xref: Patent:WO2008103673 xref: Patent:WO2010065110 xref: PMID:21567157 {source="Europe PMC"} xref: PMID:22240115 {source="Europe PMC"} xref: PMID:22252772 {source="Europe PMC"} xref: PMID:22252808 {source="Europe PMC"} xref: PMID:22285235 {source="Europe PMC"} xref: PMID:22332195 {source="Europe PMC"} xref: PMID:22508296 {source="Europe PMC"} xref: PMID:22535452 {source="Europe PMC"} xref: PMID:22552451 {source="Europe PMC"} xref: PMID:22722224 {source="Europe PMC"} xref: PMID:22779302 {source="Europe PMC"} xref: PMID:22787489 {source="Europe PMC"} xref: PMID:22836745 {source="Europe PMC"} xref: PMID:22857139 {source="Europe PMC"} xref: PMID:22869929 {source="Europe PMC"} xref: PMID:22876623 {source="Europe PMC"} xref: PMID:22923965 {source="Europe PMC"} xref: PMID:22929632 {source="Europe PMC"} xref: PMID:22977056 {source="Europe PMC"} xref: PMID:23016316 {source="Europe PMC"} xref: PMID:23109011 {source="Europe PMC"} xref: PMID:23113731 {source="Europe PMC"} xref: PMID:23114172 {source="Europe PMC"} xref: Reaxys:8132135 {source="Reaxys"} xref: Wikipedia:Nitrofurantoin is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H6N4O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H6N4O5/c13-6-4-11(8(14)10-6)9-3-5-1-2-7(17-5)12(15)16/h1-3H,4H2,(H,10,13,14)/b9-3+" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NXFQHRVNIOXGAQ-YCRREMRBSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "238.157" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "238.03382" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C1(N(/N=C/C=2OC(=CC2)[N+]([O-])=O)CC(N1)=O)=O" xsd:string [Term] id: CHEBI:71464 name: palmitoyl ethanolamide namespace: chebi_ontology def: "An N-(long-chain-acyl)ethanolamine that is the ethanolamide of palmitic (hexadecanoic) acid." [] subset: 3_STAR synonym: "Anandamide (16:0)" RELATED [LIPID_MAPS] synonym: "hexadecanoyl ethanolamide" RELATED [SUBMITTER] synonym: "Hydroxyethylpalmitamide" RELATED [ChemIDplus] synonym: "Monoethanolamine palmitic acid amide" RELATED [ChemIDplus] synonym: "N-(2-hydroxyethyl)hexadecanamide" EXACT IUPAC_NAME [IUPAC] synonym: "N-(2-Hydroxyethyl)palmitamide" RELATED [ChemIDplus] synonym: "N-hexadecanoylethanolamine" RELATED [UniProt] synonym: "N-palmitoylethanolamine" RELATED [LIPID_MAPS] synonym: "palmidrol" RELATED INN [ChemIDplus] synonym: "palmidrolum" RELATED INN [ChemIDplus] synonym: "Palmitamide MEA" RELATED [ChemIDplus] synonym: "Palmitic acid monoethanolamide" RELATED [ChemIDplus] synonym: "Palmitinsaeure-beta-hydroxyethylamid" RELATED [ChemIDplus] synonym: "Palmitoyl-EA" RELATED [LIPID_MAPS] synonym: "Palmitoylethanolamide" RELATED [KEGG_COMPOUND] synonym: "palmitoylethanolamide" RELATED [LIPID_MAPS] synonym: "PEA" RELATED [SUBMITTER] xref: CAS:544-31-0 {source="ChemIDplus"} xref: CAS:544-31-0 {source="KEGG COMPOUND"} xref: Drug_Central:2045 {source="DrugCentral"} xref: HMDB:HMDB0002100 xref: KEGG:C16512 xref: KEGG:D08328 xref: LINCS:LSM-3518 xref: LIPID_MAPS_instance:LMFA08040013 {source="LIPID MAPS"} xref: Patent:CA2738117 xref: Patent:EP2276461 xref: Patent:US2011046225 xref: Patent:US2011171313 xref: Patent:WO2009133574 xref: Patent:WO2011027373 xref: PMID:16715117 {source="Europe PMC"} xref: PMID:18501510 {source="Europe PMC"} xref: PMID:19395322 {source="Europe PMC"} xref: PMID:19535304 {source="Europe PMC"} xref: PMID:19622239 {source="Europe PMC"} xref: PMID:20462810 {source="Europe PMC"} xref: PMID:21562563 {source="SUBMITTER"} xref: PMID:21564082 {source="Europe PMC"} xref: PMID:21705689 {source="Europe PMC"} xref: PMID:22172516 {source="Europe PMC"} xref: PMID:22595021 {source="Europe PMC"} xref: PMID:22912814 {source="Europe PMC"} xref: PMID:23201387 {source="Europe PMC"} xref: PMID:4559625 {source="Europe PMC"} xref: PMID:4584774 {source="Europe PMC"} xref: PMID:4704121 {source="Europe PMC"} xref: PMID:5165412 {source="Europe PMC"} xref: Reaxys:1789716 {source="Reaxys"} xref: Wikipedia:Palmitoylethanolamide is_a: CHEBI:18059 ! lipid is_a: CHEBI:52640 ! N-acylethanolamine is_a: CHEBI:67194 ! cannabinoid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H37NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H37NO2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-18(21)19-16-17-20/h20H,2-17H2,1H3,(H,19,21)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HXYVTAGFYLMHSO-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "299.49190" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "299.28243" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCCCCCCCCCC(=O)NCCO" xsd:string [Term] id: CHEBI:71466 name: oleoyl ethanolamide namespace: chebi_ontology alt_id: CHEBI:77362 def: "An N-(long-chain-acyl)ethanolamine that is the ethanolamide of oleic acid. The monounsaturated analogue of the endocannabinoid anandamide." [] subset: 3_STAR synonym: "(9Z)-N-(2-hydroxyethyl)octadec-9-enamide" EXACT IUPAC_NAME [IUPAC] synonym: "N-(2-Hydroxyethyl)-9-octadecenamide" RELATED [ChemIDplus] synonym: "N-(2-Hydroxyethyl)oleamide" RELATED [ChemIDplus] synonym: "N-(9Z-octadecenoyl) ethanolamine" RELATED [UniProt] synonym: "N-(9Z-octadecenoyl)-ethanolamine" RELATED [LIPID_MAPS] synonym: "N-(cis-9-octadecenoyl) ethanolamine" RELATED [LIPID_MAPS] synonym: "N-(hydroxyethyl)oleamide" RELATED [LIPID_MAPS] synonym: "N-oleoyl ethanolamine" RELATED [LIPID_MAPS] synonym: "N-Oleoylethanolamine" RELATED [ChemIDplus] synonym: "OEA" RELATED [SUBMITTER] synonym: "Oleamide MEA" RELATED [ChemIDplus] synonym: "oleoyl 1-ethanolamide" RELATED [SUBMITTER] synonym: "Oleoyl monoethanolamide" RELATED [ChemIDplus] synonym: "oleoylethanolamide" RELATED [ChEBI] xref: CAS:111-58-0 {source="ChemIDplus"} xref: DrugBank:DB16495 xref: FooDB:FDB022839 xref: HMDB:HMDB0002088 xref: LINCS:LSM-2694 xref: LIPID_MAPS_instance:LMFA08040015 {source="LIPID MAPS"} xref: MetaCyc:CPD-20398 xref: PMID:19521349 {source="Europe PMC"} xref: PMID:20152858 {source="Europe PMC"} xref: PMID:20534733 {source="Europe PMC"} xref: PMID:20590573 {source="Europe PMC"} xref: PMID:21250847 {source="Europe PMC"} xref: PMID:21265075 {source="Europe PMC"} xref: PMID:21375532 {source="Europe PMC"} xref: PMID:21557271 {source="Europe PMC"} xref: PMID:21562563 {source="SUBMITTER"} xref: PMID:21749725 {source="Europe PMC"} xref: PMID:21801852 {source="Europe PMC"} xref: PMID:21935601 {source="Europe PMC"} xref: PMID:22046372 {source="Europe PMC"} xref: PMID:22112961 {source="Europe PMC"} xref: PMID:22154756 {source="Europe PMC"} xref: PMID:22613942 {source="Europe PMC"} xref: PMID:22701012 {source="Europe PMC"} xref: PMID:22763622 {source="Europe PMC"} xref: PMID:22825852 {source="Europe PMC"} xref: PMID:22850591 {source="Europe PMC"} xref: PMID:23201387 {source="Europe PMC"} xref: Reaxys:2214880 {source="Reaxys"} xref: Wikipedia:Oleoylethanolamide is_a: CHEBI:18059 ! lipid is_a: CHEBI:52640 ! N-acylethanolamine is_a: CHEBI:67194 ! cannabinoid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H39NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H39NO2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-20(23)21-18-19-22/h9-10,22H,2-8,11-19H2,1H3,(H,21,23)/b10-9-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BOWVQLFMWHZBEF-KTKRTIGZSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "325.52920" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "325.29808" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCC\\C=C/CCCCCCCC(=O)NCCO" xsd:string [Term] id: CHEBI:72006 name: (E)-isoheptadec-2-enoyl-CoA namespace: chebi_ontology def: "A methyl-branched fatty acyl-CoA obtained from the formal condensation of the thiol group of coenzyme A with the carboxy group of (E)-isoheptadec-2-enoic acid." [] subset: 3_STAR synonym: "(E)-15-methylhexadec-2-enoyl-CoA" RELATED [ChEBI] synonym: "(E)-15-methylhexadec-2-enoyl-coenzyme A" RELATED [ChEBI] synonym: "(E)-isoheptadec-2-enoyl-coenzyme A" RELATED [ChEBI] synonym: "3'-phosphoadenosine 5'-{3-[(3R)-3-hydroxy-2,2-dimethyl-4-({3-[(2-{[(2E)-15-methylhexadec-2-enoyl]sulfanyl}ethyl)amino]-3-oxopropyl}amino)-4-oxobutyl] dihydrogen diphosphate}" EXACT IUPAC_NAME [IUPAC] is_a: CHEBI:18059 ! lipid is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:26020 ! phosphate property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C38H66N7O17P3S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C38H66N7O17P3S/c1-26(2)16-14-12-10-8-6-5-7-9-11-13-15-17-29(47)66-21-20-40-28(46)18-19-41-36(50)33(49)38(3,4)23-59-65(56,57)62-64(54,55)58-22-27-32(61-63(51,52)53)31(48)37(60-27)45-25-44-30-34(39)42-24-43-35(30)45/h15,17,24-27,31-33,37,48-49H,5-14,16,18-23H2,1-4H3,(H,40,46)(H,41,50)(H,54,55)(H,56,57)(H2,39,42,43)(H2,51,52,53)/b17-15+/t27-,31-,32-,33+,37-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VBRJJZPJXKSQLS-ISKWTRNVSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "1017.95400" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "1017.34488" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)CCCCCCCCCCC\\C=C\\C(=O)SCCNC(=O)CCNC(=O)[C@H](O)C(C)(C)COP(O)(=O)OP(O)(=O)OC[C@H]1O[C@H]([C@H](O)[C@@H]1OP(O)(O)=O)n1cnc2c(N)ncnc12" xsd:string [Term] id: CHEBI:72296 name: apixaban namespace: chebi_ontology def: "A pyrazolopyridine that is 7-oxo-4,5,6,7-tetrahydro-1H-pyrazolo[3,4-c]pyridine-3-carboxamide substituted at position 1 by a 4-methoxyphenyl group and at position 6 by a 4-(2-oxopiperidin-1-yl)phenyl group. It is used for the prevention and treatment of thromboembolic diseases." [] subset: 3_STAR synonym: "1-(4-methoxyphenyl)-7-oxo-6-[4-(2-oxopiperidin-1-yl)phenyl]-4,5,6,7-tetrahydro-1H-pyrazolo[3,4-c]pyridine-3-carboxamide" EXACT IUPAC_NAME [IUPAC] synonym: "apixaban" RELATED INN [KEGG_DRUG] synonym: "apixaban" RELATED INN [WHO_MedNet] synonym: "apixabanum" RELATED INN [WHO_MedNet] synonym: "BMS 562247-01" RELATED [ChemIDplus] synonym: "BMS-562247" RELATED [DrugBank] synonym: "BMS-562247-01" RELATED [ChemIDplus] synonym: "Eliquis" RELATED BRAND_NAME [KEGG_DRUG] xref: CAS:503612-47-3 {source="ChemIDplus"} xref: CAS:503612-47-3 {source="KEGG DRUG"} xref: DrugBank:DB06605 xref: KEGG:D03213 xref: Patent:US2007259913 xref: Patent:WO2007022165 xref: Patent:WO2008031782 xref: Patent:WO2010030983 xref: PDBeChem:GG2 xref: PMID:21318583 {source="Europe PMC"} xref: PMID:21954450 {source="Europe PMC"} xref: PMID:21985171 {source="Europe PMC"} xref: PMID:22250655 {source="Europe PMC"} xref: PMID:22398784 {source="Europe PMC"} xref: PMID:22686618 {source="Europe PMC"} xref: PMID:22759198 {source="Europe PMC"} xref: PMID:23033347 {source="Europe PMC"} xref: PMID:23043068 {source="Europe PMC"} xref: PMID:23179181 {source="Europe PMC"} xref: PMID:23212107 {source="Europe PMC"} xref: PMID:23218999 {source="Europe PMC"} xref: PMID:23292264 {source="Europe PMC"} xref: PMID:23292752 {source="Europe PMC"} xref: PMID:23305476 {source="Europe PMC"} xref: PMID:23312927 {source="Europe PMC"} xref: PMID:23337923 {source="Europe PMC"} xref: PMID:23342716 {source="Europe PMC"} xref: PMID:23344716 {source="Europe PMC"} xref: PMID:23351997 {source="Europe PMC"} xref: Reaxys:11244786 {source="Reaxys"} xref: Wikipedia:Apixaban is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C25H25N5O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C25H25N5O4/c1-34-19-11-9-18(10-12-19)30-23-20(22(27-30)24(26)32)13-15-29(25(23)33)17-7-5-16(6-8-17)28-14-3-2-4-21(28)31/h5-12H,2-4,13-15H2,1H3,(H2,26,32)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QNZCBYKSOIHPEH-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "459.49710" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "459.19065" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "COc1ccc(cc1)-n1nc(C(N)=O)c2CCN(C(=O)c12)c1ccc(cc1)N1CCCCC1=O" xsd:string [Term] id: CHEBI:72347 name: phosphatidylcholine O-32:1 namespace: chebi_ontology def: "An alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 32 carbons and 1 double bond." [] subset: 3_STAR synonym: "PC O-32:1" RELATED [SUBMITTER] synonym: "PC(O-32:1)" RELATED [SUBMITTER] synonym: "phosphatidylcholine(O-32:1)" RELATED [SUBMITTER] is_a: CHEBI:36313 ! glycerophosphocholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C40H80NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "718.0395" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "717.56724" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[N+](C)([CH2-])CCO[P+]([O-])(=O)OC[C@@H](CO[*])O[*]" xsd:string [Term] id: CHEBI:72348 name: phosphatidylcholine O-40:2 namespace: chebi_ontology def: "An alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 40 carbons and 2 double bonds." [] subset: 3_STAR synonym: "PC O-40:2" RELATED [SUBMITTER] synonym: "PC(O-40:2)" RELATED [SUBMITTER] synonym: "phosphatidylcholine(O-40:2)" RELATED [SUBMITTER] is_a: CHEBI:36313 ! glycerophosphocholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C48H94NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "828.2362" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "827.67679" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[N+](C)([CH2-])CCO[P+]([O-])(=O)OC[C@@H](CO[*])O[*]" xsd:string [Term] id: CHEBI:72509 name: sphingomyelin 32:0 namespace: chebi_ontology def: "A sphingomyelin in which the total number of carbons in the sphingoid base and fatty acyl groups is 32 with 0 double bonds." [] subset: 3_STAR synonym: "SM 32:0" RELATED [SUBMITTER] synonym: "SM(32:0)" RELATED [SUBMITTER] synonym: "sphingomyelin(32:0)" RELATED [SUBMITTER] is_a: CHEBI:64583 ! sphingomyelin property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C37H77N2O6P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "676.9908" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "676.55192" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[N+](C)(C)CCOP([O-])(=O)OC[C@H](NC([*])=O)[C@H](O)[*]" xsd:string [Term] id: CHEBI:72514 name: sphingomyelin 34:1 namespace: chebi_ontology def: "A sphingomyelin in which the total number of carbons in the sphingoid base and fatty acyl groups is 34 with 1 double bond." [] subset: 3_STAR synonym: "SM 34:1" RELATED [SUBMITTER] synonym: "SM(34:1)" RELATED [SUBMITTER] synonym: "sphingomyelin(34:1)" RELATED [SUBMITTER] is_a: CHEBI:64583 ! sphingomyelin property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C39H79N2O6P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "702.5675384" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "702.56757" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[N+](C)(C)CCOP([O-])(=O)OC[C@H](NC([*])=O)[C@H](O)[*]" xsd:string [Term] id: CHEBI:72525 name: sphingomyelin 38:3 namespace: chebi_ontology def: "A sphingomyelin in which the total number of carbons in the sphingoid base and fatty acyl groups is 38 with 3 double bonds." [] subset: 3_STAR synonym: "SM 38:3" RELATED [SUBMITTER] synonym: "SM(38:3)" RELATED [SUBMITTER] synonym: "sphingomyelin(38:3)" RELATED [SUBMITTER] is_a: CHEBI:64583 ! sphingomyelin property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C43H83N2O6P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "754.5988368" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "754.59888" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[N+](C)(C)CCOP([O-])(=O)OC[C@H](NC([*])=O)[C@H](O)[*]" xsd:string [Term] id: CHEBI:72639 name: 13-HODE namespace: chebi_ontology def: "A HODE that consists of 9Z,11E-octadecadienoic acid carrying a 13-hydroxy substituent." [] subset: 3_STAR synonym: "(9Z,11E)-13-hydroxyoctadeca-9,11-dienoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "13-hydroxy-9Z,11E-octadecadienoic acid" RELATED [LIPID_MAPS] synonym: "13-hydroxy-cis-9,trans-11-octadecadienoic acid" RELATED [LIPID_MAPS] synonym: "Coriolic acid" RELATED [LIPID_MAPS] xref: LIPID_MAPS_instance:LMFA02000154 {source="LIPID MAPS"} xref: Reaxys:1913985 {source="Reaxys"} is_a: CHEBI:35366 ! fatty acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H32O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H32O3/c1-2-3-11-14-17(19)15-12-9-7-5-4-6-8-10-13-16-18(20)21/h7,9,12,15,17,19H,2-6,8,10-11,13-14,16H2,1H3,(H,20,21)/b9-7-,15-12+" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HNICUWMFWZBIFP-BSZOFBHHSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "296.446" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "296.23514" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(CCCCCCC/C=C\\C=C\\C(CCCCC)O)(=O)O" xsd:string [Term] id: CHEBI:72651 name: 9-HODE namespace: chebi_ontology def: "A HODE that consists of (10E,12Z)-octadecadienoic acid with the hydroxy substituent located at position 9." [] subset: 3_STAR synonym: "(10E,12Z)-9-HODE" RELATED [ChEBI] synonym: "(10E,12Z)-9-hydroxyoctadeca-10,12-dienoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "9-hydroxy-10E,12Z-octadecadienoic acid" RELATED [LIPID_MAPS] synonym: "9-hydroxy-trans-10,cis-12-octadecadienoic acid" RELATED [LIPID_MAPS] xref: LIPID_MAPS_instance:LMFA02000151 {source="LIPID MAPS"} xref: PMID:22790953 {source="Europe PMC"} xref: PMID:24760997 {source="Europe PMC"} xref: Reaxys:1914445 {source="Reaxys"} is_a: CHEBI:35366 ! fatty acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H32O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H32O3/c1-2-3-4-5-6-8-11-14-17(19)15-12-9-7-10-13-16-18(20)21/h6,8,11,14,17,19H,2-5,7,9-10,12-13,15-16H2,1H3,(H,20,21)/b8-6-,14-11+" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NPDSHTNEKLQQIJ-ZJHFMPGASA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "296.44490" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "296.23514" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCC\\C=C/C=C/C(O)CCCCCCCC(O)=O" xsd:string [Term] id: CHEBI:72663 name: 9,10-DiHOME namespace: chebi_ontology def: "A DiHOME obtained by formal dihydroxylation of the 9,10-double bond of octadeca-9,12-dienoic acid (the 12Z-geoisomer)." [] subset: 3_STAR synonym: "(12Z)-9,10-Dihydroxyoctadec-12-enoic acid" RELATED [LIPID_MAPS] synonym: "(12Z)-9,10-Dihydroxyoctadec-12-enoic acid" RELATED [KEGG_COMPOUND] synonym: "(12Z)-9,10-dihydroxyoctadec-12-enoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "9,10-DHOA" RELATED [KEGG_COMPOUND] synonym: "9,10-DHOME" RELATED [KEGG_COMPOUND] synonym: "9,10-dihydroxy-12Z-octadecenoic acid" RELATED [LIPID_MAPS] synonym: "9,10-Hydroxyoctadec-12(Z)-enoic acid" RELATED [IUBMB] synonym: "Leukotoxin diol" RELATED [LIPID_MAPS] xref: HMDB:HMDB0004704 xref: KEGG:C14828 xref: LIPID_MAPS_instance:LMFA02000229 {source="LIPID MAPS"} xref: Reaxys:6807939 {source="Reaxys"} is_a: CHEBI:35366 ! fatty acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H34O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H34O4/c1-2-3-4-5-7-10-13-16(19)17(20)14-11-8-6-9-12-15-18(21)22/h7,10,16-17,19-20H,2-6,8-9,11-15H2,1H3,(H,21,22)/b10-7-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XEBKSQSGNGRGDW-YFHOEESVSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "314.46020" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "314.24571" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCC\\C=C/CC(O)C(O)CCCCCCCC(O)=O" xsd:string [Term] id: CHEBI:72665 name: 12,13-DiHOME namespace: chebi_ontology def: "A DiHOME obtained by formal dihydroxylation of the 12,13-double bond of octadeca-9,12-dienoic acid (the 9Z-geoisomer)." [] subset: 3_STAR synonym: "(9Z)-12,13-Dihydroxyoctadec-9-enoic acid" RELATED [KEGG_COMPOUND] synonym: "(9Z)-12,13-dihydroxyoctadec-9-enoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "12,13-DHOA" RELATED [KEGG_COMPOUND] synonym: "12,13-DHOME" RELATED [KEGG_COMPOUND] synonym: "12,13-dihydroxy-9Z-octadecenoic acid" RELATED [LIPID_MAPS] synonym: "Isoleukotoxin" RELATED [HMDB] xref: HMDB:HMDB0004705 xref: KEGG:C14829 xref: LIPID_MAPS_instance:LMFA02000230 {source="LIPID MAPS"} xref: Reaxys:1973358 {source="Reaxys"} is_a: CHEBI:35366 ! fatty acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H34O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H34O4/c1-2-3-10-13-16(19)17(20)14-11-8-6-4-5-7-9-12-15-18(21)22/h8,11,16-17,19-20H,2-7,9-10,12-15H2,1H3,(H,21,22)/b11-8-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CQSLTKIXAJTQGA-FLIBITNWSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "314.46020" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "314.24571" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCC(O)C(O)C\\C=C/CCCCCCCC(O)=O" xsd:string [Term] id: CHEBI:72689 name: O-oleoylcarnitine namespace: chebi_ontology alt_id: CHEBI:73073 def: "An O-acylcarnitine having oleoyl as the acyl substituent." [] subset: 3_STAR synonym: "(9Z)-octadec-9-enoylcarnitine" RELATED [ChEBI] synonym: "3-[(9Z)-octadec-9-enoyloxy]-4-(trimethylammonio)butanoate" RELATED [IUPAC] synonym: "3-[(9Z)-octadec-9-enoyloxy]-4-(trimethylazaniumyl)butanoate" EXACT IUPAC_NAME [IUPAC] synonym: "acylcarnitine C18:1" RELATED [ChEBI] synonym: "cis-9-octadecenoylcarnitine" RELATED [ChEBI] synonym: "oleoylcarnitine" RELATED [ChEBI] xref: CAS:13962-05-5 {source="ChemIDplus"} xref: HMDB:HMDB0005065 xref: PMID:15653102 {source="Europe PMC"} xref: PMID:23078175 {source="Europe PMC"} xref: PMID:23315938 {source="Europe PMC"} xref: PMID:6252909 {source="Europe PMC"} xref: Reaxys:23110795 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C25H47NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C25H47NO4/c1-5-6-7-8-9-10-11-12-13-14-15-16-17-18-19-20-25(29)30-23(21-24(27)28)22-26(2,3)4/h12-13,23H,5-11,14-22H2,1-4H3/b13-12-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IPOLTUVFXFHAHI-SEYXRHQNSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "425.64500" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "425.35051" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCC\\C=C/CCCCCCCC(=O)OC(CC([O-])=O)C[N+](C)(C)C" xsd:string [Term] id: CHEBI:72734 name: lysophosphatidylethanolamine 22:6 namespace: chebi_ontology def: "An acyl-sn-glycero-3-phosphoethanolamine in which the acyl group contains twenty-two carbons with six double bonds and is attached to the glycero moiety at either position 1 or 2." [] subset: 3_STAR synonym: "LPE 22:6" RELATED [ChEBI] synonym: "LPE(22:6)" RELATED [ChEBI] synonym: "Lyso-PE(22:6)" RELATED [ChEBI] synonym: "LysoPE(22:6)" RELATED [ChEBI] synonym: "Lysophosphatidylethanolamine(22:6)" RELATED [ChEBI] synonym: "PE 22:6_0.0" RELATED [ChEBI] xref: PMID:22882828 {source="Europe PMC"} is_a: CHEBI:64574 ! lysophosphatidylethanolamine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C27H44NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "525.2855" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "525.28554" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](CO[*])(COP(O)(=O)OCCN)O[*]" xsd:string [Term] id: CHEBI:72736 name: lysophosphatidylcholine 15:0 namespace: chebi_ontology def: "An acyl-sn-glycero-3-phosphocholine in which the acyl group contains fifteen carbons with no double bonds and is attached to the glycero moiety at either position 1 or 2." [] subset: 3_STAR synonym: "1-pentadecanoyl-GPC" RELATED [ChEBI] synonym: "LPC 15:0" RELATED [ChEBI] synonym: "LPC(15:0)" RELATED [ChEBI] synonym: "LysoPC(15:0)" RELATED [ChEBI] synonym: "Lysophosphatidylcholine(15:0)" RELATED [ChEBI] synonym: "PC 15:0_0.0" RELATED [ChEBI] xref: PMID:22882828 {source="Europe PMC"} is_a: CHEBI:60479 ! lysophosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C23H48NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "481.3168" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "481.31684" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](CO[*])(COP([O-])(=O)OCC[N+](C)(C)C)O[*]" xsd:string [Term] id: CHEBI:72737 name: lysophosphatidylcholine 17:0 namespace: chebi_ontology def: "An lysophosphatidylcholine in which the acyl group contains seventeen carbons and no double bonds. If R1 is an acyl group and R2 is a hydrogen then the molecule is a 1-acyl-sn-glycero-3-phosphoethanolaminecholine. If R1 is a hydrogen and R2 is an acyl group then the molecule is a 2-acyl-sn-glycero-3-phosphocholine." [] subset: 3_STAR synonym: "LPC 17:0" RELATED [ChEBI] synonym: "LPC(17:0)" RELATED [ChEBI] synonym: "LysoPC(17:0)" RELATED [ChEBI] synonym: "Lysophosphatidylcholine(17:0)" RELATED [ChEBI] synonym: "PC 17:0_0.0" RELATED [ChEBI] xref: PMID:22882828 {source="Europe PMC"} is_a: CHEBI:60479 ! lysophosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C25H52NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "509.3481" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "509.34814" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@](CO[*])(COP([O-])(=O)OCC[N+](C)(C)C)O[*]" xsd:string [Term] id: CHEBI:72995 name: 3-hydroxybutyrylcarnitine namespace: chebi_ontology def: "An O-acylcarnitine having 3-hydroxybutyryl as the acyl substituent." [] subset: 3_STAR synonym: "3-[(3-hydroxybutanoyl)oxy]-4-(trimethylammonio)butanoate" RELATED [IUPAC] synonym: "3-[(3-hydroxybutanoyl)oxy]-4-(trimethylazaniumyl)butanoate" EXACT IUPAC_NAME [IUPAC] synonym: "beta-hydroxybutyrylcarnitine" RELATED [ChEBI] xref: PMID:23315938 {source="Europe PMC"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C11H21NO5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C11H21NO5/c1-8(13)5-11(16)17-9(6-10(14)15)7-12(2,3)4/h8-9,13H,5-7H2,1-4H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UEFRDQSMQXDWTO-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "247.28810" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "247.14197" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(O)CC(=O)OC(CC([O-])=O)C[N+](C)(C)C" xsd:string [Term] id: CHEBI:73017 name: O-isobutyrylcarnitine namespace: chebi_ontology def: "An O-acylcarnitine having isobutyryl as the acyl substituent." [] subset: 3_STAR synonym: "3-[(2-methylpropanoyl)oxy]-4-(trimethylammonio)butanoate" RELATED [IUPAC] synonym: "3-[(2-methylpropanoyl)oxy]-4-(trimethylazaniumyl)butanoate" EXACT IUPAC_NAME [IUPAC] synonym: "isobutyrylcarnitine" RELATED [ChEBI] xref: PMID:23315938 {source="Europe PMC"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C11H21NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C11H21NO4/c1-8(2)11(15)16-9(6-10(13)14)7-12(3,4)5/h8-9H,6-7H2,1-5H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LRCNOZRCYBNMEP-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "231.28870" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "231.14706" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)C(=O)OC(CC([O-])=O)C[N+](C)(C)C" xsd:string [Term] id: CHEBI:73018 name: tiglylglycine namespace: chebi_ontology def: "An N-acylglycine that is glycine with an amine hydrogen substituted by a 2-methylbut-2-enoyl (tiglyl) group." [] subset: 3_STAR synonym: "N-[(2E)-2-methylbut-2-enoyl]glycine" EXACT IUPAC_NAME [IUPAC] synonym: "N-Tiglylglycine" RELATED [HMDB] xref: CAS:35842-45-6 {source="ChemIDplus"} xref: HMDB:HMDB0000959 xref: Reaxys:2206218 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H11NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H11NO3/c1-3-5(2)7(11)8-4-6(9)10/h3H,4H2,1-2H3,(H,8,11)(H,9,10)/b5-3+" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WRUSVQOKJIDBLP-HWKANZROSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "157.16710" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "157.07389" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C\\C=C(/C)C(=O)NCC(O)=O" xsd:string [Term] id: CHEBI:73024 name: O-acetylcarnitine namespace: chebi_ontology def: "An O-acylcarnitine having acetyl as the acyl substituent." [] subset: 3_STAR synonym: "3-(acetyloxy)-4-(trimethylammonio)butanoate" RELATED [IUPAC] synonym: "3-(acetyloxy)-4-(trimethylazaniumyl)butanoate" EXACT IUPAC_NAME [IUPAC] synonym: "Acetyl-DL-carnitine" RELATED [ChemIDplus] synonym: "acetylcarnitine" RELATED [ChEBI] synonym: "DL-O-Acetylcarnitine" RELATED [ChemIDplus] xref: CAS:870-77-9 {source="ChemIDplus"} xref: PMID:23315938 {source="Europe PMC"} xref: Reaxys:4136458 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H17NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H17NO4/c1-7(11)14-8(5-9(12)13)6-10(2,3)4/h8H,5-6H2,1-4H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RDHQFKQIGNGIED-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "203.23560" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "203.11576" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(=O)OC(CC([O-])=O)C[N+](C)(C)C" xsd:string [Term] id: CHEBI:73025 name: O-isovalerylcarnitine namespace: chebi_ontology def: "A C5-acylcarnitine having isovaleryl as the acyl substituent." [] subset: 3_STAR synonym: "3-[(3-methylbutanoyl)oxy]-4-(trimethylammonio)butanoate" EXACT IUPAC_NAME [IUPAC] synonym: "3-methylbutyrylcarnitine" RELATED [ChEBI] xref: HMDB:HMDB0000688 xref: PMID:16602101 {source="Europe PMC"} xref: PMID:23315938 {source="Europe PMC"} xref: Reaxys:5814736 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12H23NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C12H23NO4/c1-9(2)6-12(16)17-10(7-11(14)15)8-13(3,4)5/h9-10H,6-8H2,1-5H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IGQBPDJNUXPEMT-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "245.31530" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "245.16271" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)CC(=O)OC(CC([O-])=O)C[N+](C)(C)C" xsd:string [Term] id: CHEBI:73026 name: 2-methylbutyrylcarnitine namespace: chebi_ontology def: "A C5-acylcarnitine having 2-methylbutyryl as the acyl substituent." [] subset: 3_STAR synonym: "2-Methylbutyroylcarnitine" RELATED [HMDB] synonym: "3-[(2-methylbutanoyl)oxy]-4-(trimethylammonio)butanoate" RELATED [IUPAC] synonym: "3-[(2-methylbutanoyl)oxy]-4-(trimethylazaniumyl)butanoate" EXACT IUPAC_NAME [IUPAC] xref: CAS:31023-25-3 {source="HMDB"} xref: HMDB:HMDB0000378 xref: PMID:20591710 {source="Europe PMC"} xref: PMID:23315938 {source="Europe PMC"} xref: PMID:23712021 {source="Europe PMC"} xref: Reaxys:14843080 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12H23NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C12H23NO4/c1-6-9(2)12(16)17-10(7-11(14)15)8-13(3,4)5/h9-10H,6-8H2,1-5H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IHCPDBBYTYJYIL-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "245.31530" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "245.16271" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCC(C)C(=O)OC(CC([O-])=O)C[N+](C)(C)C" xsd:string [Term] id: CHEBI:73034 name: O-succinylcarnitine namespace: chebi_ontology def: "An O-acylcarnitine having succinyl as the acyl substituent." [] subset: 3_STAR synonym: "3-[(3-carboxypropanoyl)oxy]-4-(trimethylammonio)butanoate" RELATED [IUPAC] synonym: "3-[(3-carboxypropanoyl)oxy]-4-(trimethylazaniumyl)butanoate" EXACT IUPAC_NAME [IUPAC] synonym: "succinylcarnitine" RELATED [ChEBI] xref: HMDB:HMDB0061717 xref: PMID:20453710 {source="Europe PMC"} xref: PMID:23315938 {source="Europe PMC"} xref: PMID:23759946 {source="Europe PMC"} xref: PMID:25091629 {source="Europe PMC"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C11H19NO6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C11H19NO6/c1-12(2,3)7-8(6-10(15)16)18-11(17)5-4-9(13)14/h8H,4-7H2,1-3H3,(H-,13,14,15,16)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HAEVNYBCYZZDFL-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "261.27170" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "261.12124" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[N+](C)(C)CC(CC([O-])=O)OC(=O)CCC(O)=O" xsd:string [Term] id: CHEBI:73040 name: O-glutarylcarnitine namespace: chebi_ontology def: "An O-acylcarnitine having glutaryl as the acyl substituent." [] subset: 3_STAR synonym: "3-[(4-carboxybutanoyl)oxy]-4-(trimethylammonio)butanoate" RELATED [IUPAC] synonym: "3-[(4-carboxybutanoyl)oxy]-4-(trimethylazaniumyl)butanoate" EXACT IUPAC_NAME [IUPAC] synonym: "glutarylcarnitine" RELATED [ChEBI] xref: PMID:23315938 {source="Europe PMC"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12H21NO6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C12H21NO6/c1-13(2,3)8-9(7-11(16)17)19-12(18)6-4-5-10(14)15/h9H,4-8H2,1-3H3,(H-,14,15,16,17)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NXJAXUYOQLTISD-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "275.29820" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "275.13689" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[N+](C)(C)CC(CC([O-])=O)OC(=O)CCCC(O)=O" xsd:string [Term] id: CHEBI:73048 name: O-[(4Z)-decenoyl]carnitine namespace: chebi_ontology def: "An O-decenoylcarnitine having (4Z)-decenoyl as the acyl substituent." [] subset: 3_STAR synonym: "(Z)-dec-4-enoylcarnitine" RELATED [IUPAC] synonym: "3-[(4Z)-dec-4-enoyloxy]-4-(trimethylammonio)butanoate" RELATED [IUPAC] synonym: "3-[(4Z)-dec-4-enoyloxy]-4-(trimethylazaniumyl)butanoate" EXACT IUPAC_NAME [IUPAC] synonym: "cis-4-decenoylcarnitine" RELATED [ChEBI] xref: PMID:23315938 {source="Europe PMC"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C17H31NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C17H31NO4/c1-5-6-7-8-9-10-11-12-17(21)22-15(13-16(19)20)14-18(2,3)4/h9-10,15H,5-8,11-14H2,1-4H3/b10-9-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OQWOHRPOYAVIOK-KTKRTIGZSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "313.43230" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "313.22531" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCC\\C=C/CCC(=O)OC(CC([O-])=O)C[N+](C)(C)C" xsd:string [Term] id: CHEBI:73067 name: O-palmitoylcarnitine namespace: chebi_ontology def: "An O-acylcarnitine having palmitoyl (hexadecanoyl) as the acyl substituent." [] subset: 3_STAR synonym: "3-(hexadecanoyloxy)-4-(trimethylammonio)butanoate" RELATED [IUPAC] synonym: "3-(hexadecanoyloxy)-4-(trimethylazaniumyl)butanoate" EXACT IUPAC_NAME [IUPAC] synonym: "hexadecanoylcarnitine" RELATED [ChEBI] synonym: "hexadecanoylcarnitines" RELATED [ChEBI] synonym: "O-hexadecanoylcarnitine" RELATED [ChEBI] synonym: "palmitoylcarnitine" RELATED [ChEBI] xref: CAS:1935-18-8 {source="ChemIDplus"} xref: PMID:23315938 {source="Europe PMC"} xref: Reaxys:4152032 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C23H45NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C23H45NO4/c1-5-6-7-8-9-10-11-12-13-14-15-16-17-18-23(27)28-21(19-22(25)26)20-24(2,3)4/h21H,5-20H2,1-4H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XOMRRQXKHMYMOC-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "399.60770" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "399.33486" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCCCCCCCCCC(=O)OC(CC([O-])=O)C[N+](C)(C)C" xsd:string [Term] id: CHEBI:73072 name: O-linoleoylcarnitine namespace: chebi_ontology def: "An O-acylcarnitine having linoleoyl as the acyl substituent." [] subset: 3_STAR synonym: "(9Z,12Z)-octadeca-9,12-dienoylcarnitine" RELATED [ChEBI] synonym: "3-[(9Z,12Z)-octadeca-9,12-dienoyloxy]-4-(trimethylammonio)butanoate" RELATED [IUPAC] synonym: "3-[(9Z,12Z)-octadeca-9,12-dienoyloxy]-4-(trimethylazaniumyl)butanoate" EXACT IUPAC_NAME [IUPAC] synonym: "9cis,12cis-octadecadienoylcarnitine" RELATED [ChEBI] synonym: "linoleylcarnitine" RELATED [ChEBI] xref: PMID:23315938 {source="Europe PMC"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C25H45NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C25H45NO4/c1-5-6-7-8-9-10-11-12-13-14-15-16-17-18-19-20-25(29)30-23(21-24(27)28)22-26(2,3)4/h9-10,12-13,23H,5-8,11,14-22H2,1-4H3/b10-9-,13-12-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "MJLXQSQYKZWZCB-UTJQPWESSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "423.62910" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "423.33486" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCC\\C=C/C\\C=C/CCCCCCCC(=O)OC(CC([O-])=O)C[N+](C)(C)C" xsd:string [Term] id: CHEBI:73074 name: O-stearoylcarnitine namespace: chebi_ontology def: "An O-acylcarnitine having stearoyl (octadecanoyl) as the acyl substituent." [] subset: 3_STAR synonym: "3-(octadecanoyloxy)-4-(trimethylammonio)butanoate" RELATED [IUPAC] synonym: "3-(octadecanoyloxy)-4-(trimethylazaniumyl)butanoate" EXACT IUPAC_NAME [IUPAC] synonym: "Acylcarnitine C18:0" RELATED [HMDB] synonym: "O-octadecanoylcarnitine" RELATED [ChEBI] synonym: "octadecanoylcarnitine" RELATED [ChEBI] synonym: "stearoylcarnitine" RELATED [ChEBI] xref: HMDB:HMDB0000848 xref: PMID:17029002 {source="Europe PMC"} xref: PMID:17761175 {source="Europe PMC"} xref: PMID:23315938 {source="Europe PMC"} xref: Reaxys:8731846 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C25H49NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C25H49NO4/c1-5-6-7-8-9-10-11-12-13-14-15-16-17-18-19-20-25(29)30-23(21-24(27)28)22-26(2,3)4/h23H,5-22H2,1-4H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FNPHNLNTJNMAEE-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "427.66090" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "427.36616" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCCCCCCCCCCCC(=O)OC(CC([O-])=O)C[N+](C)(C)C" xsd:string [Term] id: CHEBI:73177 name: brassinazole namespace: chebi_ontology def: "A member of the class of triazoles that is butan-2-ol which is substituted at positions 2, 3, and 4 by phenyl, 1H-1,2,4-triazol-1-yl and p-chlorophenyl groups, respectively. An inhibitor of brassinosteroid biosynthesis." [] subset: 3_STAR synonym: "4-(4-chlorophenyl)-2-phenyl-3-(1H-1,2,4-triazol-1-yl)butan-2-ol" EXACT IUPAC_NAME [IUPAC] synonym: "Brz" RELATED [ChEBI] xref: PMID:10806228 {source="Europe PMC"} xref: PMID:11144262 {source="Europe PMC"} xref: PMID:11577196 {source="Europe PMC"} xref: PMID:14655015 {source="Europe PMC"} xref: PMID:16038953 {source="Europe PMC"} xref: PMID:19203977 {source="Europe PMC"} is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H18ClN3O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H18ClN3O/c1-18(23,15-5-3-2-4-6-15)17(22-13-20-12-21-22)11-14-7-9-16(19)10-8-14/h2-10,12-13,17,23H,11H2,1H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YULDTPKHZNKFEY-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "327.80800" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "327.11384" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(O)(C(Cc1ccc(Cl)cc1)n1cncn1)c1ccccc1" xsd:string [Term] id: CHEBI:73204 name: ceramide phosphoethanolamine namespace: chebi_ontology def: "Any of a class of phosphosphingolipids in which the amino group of a sphingoid base is in amide linkage with one of several fatty acids, while the terminal hydroxy group of the sphingoid base is esterified to phosphorylethanolamine." [] subset: 3_STAR synonym: "ceramide phosphoethanolamines" RELATED [ChEBI] synonym: "N-acylceramide phosphoethanolamine" RELATED [ChEBI] synonym: "N-acylceramide phosphoethanolamines" RELATED [ChEBI] xref: LIPID_MAPS_class:LMSP0302 {source="LIPID MAPS"} is_a: CHEBI:16247 ! phospholipid is_a: CHEBI:36711 ! phosphoethanolamine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H13N2O6PR2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "240.151" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "240.05112" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NCCOP(O)(=O)OC[C@H](NC([*])=O)[C@H](O)[*]" xsd:string [Term] id: CHEBI:73610 name: Met-Ala namespace: chebi_ontology def: "A dipeptide formed from L-methionine and L-alanine residues." [] subset: 3_STAR synonym: "L-Met-L-Ala" RELATED [ChEBI] synonym: "L-methionyl-L-alanine" EXACT IUPAC_NAME [IUPAC] synonym: "M-A" RELATED [ChEBI] synonym: "MA" RELATED [ChEBI] synonym: "Methionylalanine" RELATED [HMDB] xref: HMDB:HMDB0028966 xref: MetaCyc:CPD-13390 xref: Reaxys:2261118 {source="Reaxys"} is_a: EFO:0004417 ! amide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H16N2O3S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H16N2O3S/c1-5(8(12)13)10-7(11)6(9)3-4-14-2/h5-6H,3-4,9H2,1-2H3,(H,10,11)(H,12,13)/t5-,6-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JHKXZYLNVJRAAJ-WDSKDSINSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "220.28900" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "220.08816" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CSCC[C@H](N)C(=O)N[C@@H](C)C(O)=O" xsd:string [Term] id: CHEBI:73699 name: Val-Gly namespace: chebi_ontology def: "A dipeptide formed from L-valine and glycine residues." [] subset: 3_STAR synonym: "L-Val-Gly" RELATED [ChEBI] synonym: "L-valylglycine" EXACT IUPAC_NAME [IUPAC] synonym: "V-G" RELATED [ChEBI] synonym: "valylglycine" RELATED [ChEBI] synonym: "VG" RELATED [ChEBI] xref: HMDB:HMDB0029127 xref: Reaxys:1724726 {source="Reaxys"} is_a: EFO:0004417 ! amide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H14N2O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H14N2O3/c1-4(2)6(8)7(12)9-3-5(10)11/h4,6H,3,8H2,1-2H3,(H,9,12)(H,10,11)/t6-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IOUPEELXVYPCPG-LURJTMIESA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "174.19770" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "174.10044" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)[C@H](N)C(=O)NCC(O)=O" xsd:string [Term] id: CHEBI:73705 name: gamma-Glu-Glu namespace: chebi_ontology def: "A dipeptide obtained by formal condensation of the gamma-carboxy group of glutamic acid with the amino group of another glutamic acid." [] subset: 3_STAR synonym: "(5-L-Glutamyl)-L-glutamate" RELATED [KEGG_COMPOUND] synonym: "gamma-Glutamylglutamate" RELATED [ChemIDplus] synonym: "gamma-L-Glu-L-Glu" RELATED [ChEBI] synonym: "L-gamma-glutamyl-L-glutamic acid" EXACT IUPAC_NAME [IUPAC] xref: CAS:1116-22-9 {source="ChemIDplus"} xref: HMDB:HMDB0011737 xref: KEGG:C05282 xref: PMID:2419390 {source="Europe PMC"} xref: PMID:2568603 {source="Europe PMC"} xref: PMID:8361661 {source="Europe PMC"} xref: Reaxys:1729787 {source="Reaxys"} is_a: EFO:0004417 ! amide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H16N2O7" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H16N2O7/c11-5(9(16)17)1-3-7(13)12-6(10(18)19)2-4-8(14)15/h5-6H,1-4,11H2,(H,12,13)(H,14,15)(H,16,17)(H,18,19)/t5-,6-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OWQDWQKWSLFFFR-WDSKDSINSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "276.24320" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "276.09575" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "N[C@@H](CCC(=O)N[C@@H](CCC(O)=O)C(O)=O)C(O)=O" xsd:string [Term] id: CHEBI:73707 name: gamma-Glu-Gln namespace: chebi_ontology alt_id: CHEBI:82964 def: "A dipeptide obtained by formal condensation of the gamma-carboxy group of glutamic acid with the amino group of glutamine" [] subset: 3_STAR synonym: "gamma-L-Glu-L-Gln" RELATED [ChEBI] synonym: "L-gamma-glutamyl-L-glutamine" EXACT IUPAC_NAME [IUPAC] xref: CAS:1466-50-8 {source="ChemIDplus"} xref: HMDB:HMDB0011738 xref: KEGG:C05283 xref: PMID:7595563 {source="Europe PMC"} xref: Reaxys:1729785 {source="Reaxys"} is_a: EFO:0004417 ! amide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H17N3O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H17N3O6/c11-5(9(16)17)1-4-8(15)13-6(10(18)19)2-3-7(12)14/h5-6H,1-4,11H2,(H2,12,14)(H,13,15)(H,16,17)(H,18,19)/t5-,6-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JBFYFLXEJFQWMU-WDSKDSINSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "275.25850" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "275.11174" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "N[C@@H](CCC(=O)N[C@@H](CCC(N)=O)C(O)=O)C(O)=O" xsd:string [Term] id: CHEBI:73725 name: N-gondoylethanolamine namespace: chebi_ontology def: "A fatty amide obtained by the formal condensation of (11Z)-eicosaenoic acid with ethanolamine." [] subset: 3_STAR synonym: "(11Z)-N-(2-hydroxyethyl)icos-11-enamide" EXACT IUPAC_NAME [IUPAC] synonym: "N-(11Z)-eicosaenoylethanolamine" RELATED [ChEBI] synonym: "N-cis-11-eicosaenoylethanolamine" RELATED [LIPID_MAPS] xref: LIPID_MAPS_instance:LMFA08040010 {source="LIPID MAPS"} xref: Reaxys:7641807 {source="Reaxys"} is_a: CHEBI:18059 ! lipid is_a: CHEBI:52640 ! N-acylethanolamine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H43NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C22H43NO2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-18-19-22(25)23-20-21-24/h9-10,24H,2-8,11-21H2,1H3,(H,23,25)/b10-9-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YDKRGMXLBRWZJR-KTKRTIGZSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "353.58230" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "353.32938" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCC\\C=C/CCCCCCCCCC(=O)NCCO" xsd:string [Term] id: CHEBI:73858 name: 1-stearoyl-sn-glycero-3-phosphocholine namespace: chebi_ontology alt_id: CHEBI:74964 def: "A lysophosphatidylcholine 18:0 in which the acyl substituent is located at position 1 and is specified as stearoyl." [] subset: 3_STAR synonym: "(2R)-2-hydroxy-3-(octadecanoyloxy)propyl 2-(trimethylazaniumyl)ethyl phosphate" EXACT IUPAC_NAME [IUPAC] synonym: "(2R)-2-hydroxy-3-(stearoyloxy)propyl 2-(trimethylazaniumyl)ethyl phosphate" RELATED [IUPAC] synonym: "1-O-Stearoyl-sn-glycero-3-phosphocholine" RELATED [LIPID_MAPS] synonym: "1-octadecanoyl-sn-glycero-3-phosphocholine" RELATED [UniProt] synonym: "1-octadecanoyl-sn-glycero-3-phosphocholine" RELATED [LIPID_MAPS] synonym: "1-Stearoyl-glycero-3-phosphocholine" RELATED [HMDB] synonym: "1-stearoylglycerophosphocholine (18:0)" RELATED [ChEBI] synonym: "1-stearoylglycerophosphocholine(18:0)" RELATED [ChEBI] synonym: "18:0 LYSO-PC" RELATED [LIPID_MAPS] synonym: "GPCho 18:0/0:0" RELATED [ChEBI] synonym: "GPCho(18:0/0:0)" RELATED [ChEBI] synonym: "LPC 18:0/0:0" RELATED [ChEBI] synonym: "LPC(18:0)" RELATED [HMDB] synonym: "LPC(18:0/0:0)" RELATED [LIPID_MAPS] synonym: "LysoPC 18:0/0:0" RELATED [ChEBI] synonym: "LysoPC(18:0)" RELATED [HMDB] synonym: "LysoPC(18:0/0:0)" RELATED [HMDB] synonym: "lysophosphatidylcholine (18:0/0:0)" RELATED [ChEBI] synonym: "Lysophosphatidylcholine(18:0)" RELATED [HMDB] synonym: "Lysophosphatidylcholine(18:0/0:0)" RELATED [HMDB] synonym: "PC 18:0/0:0" RELATED [ChEBI] synonym: "PC(18:0/0:0)" RELATED [LIPID_MAPS] xref: CAS:5655-17-4 {source="ChemIDplus"} xref: HMDB:HMDB0010384 xref: LIPID_MAPS_instance:LMGP01050026 {source="LIPID MAPS"} xref: PMID:20060459 {source="Europe PMC"} xref: PMID:22952663 {source="Europe PMC"} xref: PMID:23729004 {source="Europe PMC"} xref: PMID:28667014 {source="Europe PMC"} xref: Reaxys:4215476 {source="Reaxys"} is_a: CHEBI:64561 ! lysophosphatidylcholine 18:0 property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C26H54NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C26H54NO7P/c1-5-6-7-8-9-10-11-12-13-14-15-16-17-18-19-20-26(29)32-23-25(28)24-34-35(30,31)33-22-21-27(2,3)4/h25,28H,5-24H2,1-4H3/t25-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IHNKQIMGVNPMTC-RUZDIDTESA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "523.68320" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "523.36379" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCCCCCCCCCCCC(=O)OC[C@@H](O)COP([O-])(=O)OCC[N+](C)(C)C" xsd:string [Term] id: CHEBI:73924 name: His-Ala namespace: chebi_ontology def: "A dipeptide formed from L-histidine and L-alanine residues." [] subset: 3_STAR synonym: "HA" RELATED [ChEBI] synonym: "Histidinoalanine" RELATED [ChemIDplus] synonym: "Histidinyl-Alanine" RELATED [HMDB] synonym: "histidylalanine" RELATED [ChEBI] synonym: "L-His-L-Ala" RELATED [ChEBI] synonym: "L-histidyl-L-alanine" EXACT IUPAC_NAME [IUPAC] synonym: "N-(2-Amino-2-carboxyethyl)histidine" RELATED [ChemIDplus] xref: CAS:16874-75-2 {source="ChemIDplus"} xref: HMDB:HMDB0028878 xref: PMID:21612224 {source="Europe PMC"} xref: Reaxys:89967 {source="Reaxys"} is_a: EFO:0004417 ! amide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H14N4O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H14N4O3/c1-5(9(15)16)13-8(14)7(10)2-6-3-11-4-12-6/h3-5,7H,2,10H2,1H3,(H,11,12)(H,13,14)(H,15,16)/t5-,7-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FRJIAZKQGSCKPQ-FSPLSTOPSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "226.23250" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "226.10659" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[C@H](NC(=O)[C@@H](N)Cc1c[nH]cn1)C(O)=O" xsd:string [Term] id: CHEBI:73990 name: 2-oleoylglycerol namespace: chebi_ontology alt_id: CHEBI:75338 def: "A 2-monoglyceride where the acyl group is (9Z)-octadecenoyl." [] subset: 3_STAR synonym: "1,3-dihydroxypropan-2-yl (9Z)-octadec-9-enoate" EXACT IUPAC_NAME [IUPAC] synonym: "1,3-dihydroxypropan-2-yl oleate" RELATED [ChEBI] synonym: "2-(9Z-octadecenoyl)-glycerol" RELATED [LIPID_MAPS] synonym: "2-(9Z-octadecenoyl)-glycerol" RELATED [UniProt] synonym: "2-glyceryl monooleate" RELATED [ChemIDplus] synonym: "2-mono-C18:1" RELATED [ChEBI] synonym: "2-monoolein" RELATED [LIPID_MAPS] synonym: "2-monooleoylglycerol" RELATED [ChEBI] synonym: "2-oleoyl-glycerol" RELATED [LIPID_MAPS] synonym: "MG(0:0/18:1(9Z)/0:0)" RELATED [LIPID_MAPS] synonym: "UNII-9A2389K694" RELATED [ChemIDplus] xref: CAS:3443-84-3 {source="ChemIDplus"} xref: LIPID_MAPS_instance:LMGL01010024 {source="LIPID MAPS"} xref: MetaCyc:CPD0-1812 xref: Reaxys:1728973 {source="Reaxys"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C21H40O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C21H40O4/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-21(24)25-20(18-22)19-23/h9-10,20,22-23H,2-8,11-19H2,1H3/b10-9-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UPWGQKDVAURUGE-KTKRTIGZSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "356.53990" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "356.29266" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCC\\C=C/CCCCCCCC(=O)OC(CO)CO" xsd:string [Term] id: CHEBI:74000 name: 1-palmitoyl-2-palmitoleoyl-sn-glycero-3-phosphocholine namespace: chebi_ontology alt_id: CHEBI:74907 def: "A phosphatidylcholine 32:1 in which the acyl groups at C-1 and C-2 are hexadecanoyl and (9Z)-hexadec-9-enoyl respectively." [] subset: 3_STAR synonym: "(2R)-2-[(9Z)-hexadec-9-enoyloxy]-3-(palmitoyloxy)propyl 2-(trimethylammonio)ethyl phosphate" RELATED [IUPAC] synonym: "(2R)-3-(hexadecanoyloxy)-2-[(9Z)-hexadec-9-enoyloxy]propyl 2-(trimethylammonio)ethyl phosphate" RELATED [IUPAC] synonym: "(2R)-3-(hexadecanoyloxy)-2-[(9Z)-hexadec-9-enoyloxy]propyl 2-(trimethylazaniumyl)ethyl phosphate" EXACT IUPAC_NAME [IUPAC] synonym: "(R-(Z))-4-hydroxy-N,N,N-trimethyl-10-oxo-7-((1-oxo-9-hexadecenyl)oxy)-3,5,9-trioxa-4-phosphapentacosan-1-aminium, hydroxide, inner salt, 4-oxide" RELATED [ChemIDplus] synonym: "1-C16:0-2-C16:1(omega-7)-phosphatidylcholine" RELATED [SUBMITTER] synonym: "1-hexadecanoyl-2-(9Z)-hexadecenoyl-sn-glycero-3-phosphocholine" RELATED [SUBMITTER] synonym: "1-hexadecanoyl-2-(9Z-hexadecenoyl)-sn-glycero-3-phosphocholine" RELATED [LIPID_MAPS] synonym: "1-hexadecanoyl-2-(9Z-hexadecenoyl)-sn-glycero-3-phosphocholine" RELATED [UniProt] synonym: "1-hexadecanoyl-2-(9Z-hexadecenoyl)-sn-glycero-3-phosphocholine zwitterion" RELATED [ChEBI] synonym: "1-palmitoyl-2-palmitoleoyl-GPC" RELATED [ChEBI] synonym: "1-palmitoyl-2-palmitoleoyl-GPC (16:0/16:1)" RELATED [ChEBI] synonym: "1-Palmitoyl-2-palmitoleoyl-sn-glycero-3-phosphocholine" EXACT [ChemIDplus] synonym: "GPC(16:0/16:1)" RELATED [ChEBI] synonym: "PC(16:0/16:1(9Z))" RELATED [SUBMITTER] synonym: "PC(16:0/16:1(9Z))" RELATED [LIPID_MAPS] synonym: "PC(16:0/16:1)" RELATED [LIPID_MAPS] synonym: "PC(16:0/16:1omega7)" RELATED [HMDB] synonym: "PC(32:1)" RELATED [HMDB] synonym: "Phosphatidylcholine(16:0/16:1)" RELATED [HMDB] synonym: "Phosphatidylcholine(16:0/16:1omega7)" RELATED [HMDB] synonym: "Phosphatidylcholine(32:1)" RELATED [HMDB] synonym: "sn-1-palmitoyl-2-palmitoleoylphosphatidylcholine" RELATED [ChEBI] xref: CAS:53595-24-7 {source="ChemIDplus"} xref: HMDB:HMDB0007969 xref: LIPID_MAPS_instance:LMGP01010566 {source="LIPID MAPS"} xref: Reaxys:6034659 {source="Reaxys"} is_a: CHEBI:66849 ! phosphatidylcholine 32:1 property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C40H78NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C40H78NO8P/c1-6-8-10-12-14-16-18-20-22-24-26-28-30-32-39(42)46-36-38(37-48-50(44,45)47-35-34-41(3,4)5)49-40(43)33-31-29-27-25-23-21-19-17-15-13-11-9-7-2/h17,19,38H,6-16,18,20-37H2,1-5H3/b19-17-/t38-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QIBZFHLFHCIUOT-NPBIGWJUSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "732.025" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "731.54651" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O(C(=O)CCCCCCC/C=C\\CCCCCC)[C@H](COC(CCCCCCCCCCCCCCC)=O)COP(=O)([O-])OCC[N+](C)(C)C" xsd:string [Term] id: CHEBI:74066 name: Ile-Gly namespace: chebi_ontology def: "A dipeptide formed from L-isoleucine and glycine residues." [] subset: 3_STAR synonym: "IG" RELATED [ChEBI] synonym: "Isoleucyl-Glycine" RELATED [HMDB] synonym: "isoleucylglycine" RELATED [ChEBI] synonym: "L-Ile-Gly" RELATED [ChEBI] synonym: "L-isoleucylglycine" EXACT IUPAC_NAME [IUPAC] xref: HMDB:HMDB0028907 xref: Reaxys:1725444 {source="Reaxys"} is_a: EFO:0004417 ! amide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H16N2O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H16N2O3/c1-3-5(2)7(9)8(13)10-4-6(11)12/h5,7H,3-4,9H2,1-2H3,(H,10,13)(H,11,12)/t5-,7-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UCGDDTHMMVWVMV-FSPLSTOPSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "188.22420" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "188.11609" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC[C@H](C)[C@H](N)C(=O)NCC(O)=O" xsd:string [Term] id: CHEBI:74074 name: allopurinol riboside namespace: chebi_ontology def: "A nucleoside analogue that is allopurinol with a beta-D-ribofuranosyl moiety at the 1-position." [] subset: 3_STAR synonym: "1-(beta-D-ribofuranosyl)-1,7-dihydro-4H-pyrazolo[3,4-d]pyrimidin-4-one" EXACT IUPAC_NAME [IUPAC] synonym: "4-Hydroxy[3,4-D]pyrazolopyrimidine riboside" RELATED [HMDB] synonym: "Allopurinol ribonucleoside" RELATED [HMDB] synonym: "Allopurinol-1-ribonucleoside" RELATED [HMDB] xref: HMDB:HMDB0000481 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H12N4O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H12N4O5/c15-2-5-6(16)7(17)10(19-5)14-8-4(1-13-14)9(18)12-3-11-8/h1,3,5-7,10,15-17H,2H2,(H,11,12,18)/t5-,6-,7-,10-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KFQUAMTWOJHPEJ-DAGMQNCNSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "268.22610" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "268.08077" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC[C@H]1O[C@H]([C@H](O)[C@@H]1O)n1ncc2c1[nH]cnc2=O" xsd:string [Term] id: CHEBI:74077 name: S-allylcysteine namespace: chebi_ontology def: "An S-hydrocarbyl-L-cysteine that is L-cysteine in which the hydrogen attached to the sulphur is replaced by a prop-2-enyl group. It commonly occurs in garlic and has been found to exhibit antineoplastic activity." [] subset: 3_STAR synonym: "L-deoxyalliin" RELATED [HMDB] synonym: "S-2-propenyl-L-cysteine" RELATED [HMDB] synonym: "S-allyl-L-cysteine" RELATED [ChEBI] synonym: "S-prop-2-en-1-yl-L-cysteine" EXACT IUPAC_NAME [IUPAC] xref: CAS:21593-77-1 {source="KEGG COMPOUND"} xref: CAS:21593-77-1 {source="ChemIDplus"} xref: HMDB:HMDB0034323 xref: KEGG:C16759 xref: PMID:21166677 {source="Europe PMC"} xref: PMID:21560330 {source="Europe PMC"} xref: PMID:22052207 {source="Europe PMC"} xref: PMID:22981633 {source="Europe PMC"} xref: Reaxys:1722895 {source="Reaxys"} xref: Wikipedia:S-Allyl_cysteine is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H11NO2S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H11NO2S/c1-2-3-10-4-5(7)6(8)9/h2,5H,1,3-4,7H2,(H,8,9)/t5-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ZFAHNWWNDFHPOH-YFKPBYRVSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "161.22200" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "161.05105" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "N[C@@H](CSCC=C)C(O)=O" xsd:string [Term] id: CHEBI:74103 name: CE(22:6) namespace: chebi_ontology def: "A cholesterol ester in which the acyl group contains 22 carbons in total and 6 double bonds." [] subset: 3_STAR synonym: "CE 22:6" RELATED [ChEBI] synonym: "cholesterol ester 22:6" RELATED [ChEBI] synonym: "cholesterol ester(22:6)" RELATED [ChEBI] is_a: CHEBI:17002 ! cholesteryl ester property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C49H76O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "697.128" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "696.58453" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C1[C@@]2([C@]3(CC[C@]4([C@]([C@@]3(CC=C2C[C@H](C1)OC(=O)*)[H])(CC[C@@]4([C@H](C)CCCC(C)C)[H])[H])C)[H])C" xsd:string [Term] id: CHEBI:74348 name: 1-[(4Z,7Z,10Z,13Z,16Z)-docosapentaenoyl]-sn-glycero-3-phosphocholine namespace: chebi_ontology def: "A lysophosphatidylcholine 22:5 in which the acyl group at position 1 is (4Z,7Z,10Z,13Z,16Z)-docosapentaenoyl and the hydroxy group at position 2 is unsubstituted." [] subset: 3_STAR synonym: "(2R)-3-[(4Z,7Z,10Z,13Z,16Z)-docosa-4,7,10,13,16-pentaenoyloxy]-2-hydroxypropyl 2-(trimethylammonio)ethyl phosphate" EXACT IUPAC_NAME [IUPAC] synonym: "1-(4Z,7Z,10Z,13Z,16Z)-docosapentaenoyl-sn-glycero-3-phosphocholine" RELATED [UniProt] synonym: "1-Docosapentaenoyl-glycero-3-phosphocholine" RELATED [HMDB] synonym: "1-docosapentaenoyl-GPC" RELATED [ChEBI] synonym: "1-docosapentaenoyl-GPC (22:5n6)" RELATED [ChEBI] synonym: "1-Osbondoyl-glycero-3-phosphocholine" RELATED [HMDB] synonym: "GPC(22:5n6)" RELATED [ChEBI] synonym: "LPC 22:5(4Z,7Z,10Z,13Z,16Z)/0:0" RELATED [ChEBI] synonym: "LPC(22:5(4Z,7Z,10Z,13Z,16Z)/0:0)" RELATED [ChEBI] synonym: "LysoPC 22:5(4Z,7Z,10Z,13Z,16Z)/0:0" RELATED [ChEBI] synonym: "LysoPC(22:5(4Z,7Z,10Z,13Z,16Z)/0:0)" RELATED [ChEBI] synonym: "lysophosphatidylcholine(22:5(4Z,7Z,10Z,13Z,16Z)/0:0)" RELATED [ChEBI] synonym: "PC 22:5(4Z,7Z,10Z,13Z,16Z)/0:0" RELATED [ChEBI] synonym: "PC(22:5(4Z,7Z,10Z,13Z,16Z)/0:0)" RELATED [ChEBI] synonym: "PC(22:5n6)" RELATED [ChEBI] xref: HMDB:HMDB0010402 is_a: CHEBI:60479 ! lysophosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C30H52NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C30H52NO7P/c1-5-6-7-8-9-10-11-12-13-14-15-16-17-18-19-20-21-22-23-24-30(33)36-27-29(32)28-38-39(34,35)37-26-25-31(2,3)4/h9-10,12-13,15-16,18-19,21-22,29,32H,5-8,11,14,17,20,23-28H2,1-4H3/b10-9-,13-12-,16-15-,19-18-,22-21-/t29-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YBUXFQUGNPBZPS-YNBHEIDWSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "569.711" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "569.34814" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O(C(=O)CC/C=C\\C/C=C\\C/C=C\\C/C=C\\C/C=C\\CCCCC)C[C@H](COP(OCC[N+](C)(C)C)(=O)[O-])O" xsd:string [Term] id: CHEBI:7438 name: N-methylformamide namespace: chebi_ontology alt_id: CHEBI:105684 def: "A member of the class of formamides having a N-methyl substituent." [] subset: 3_STAR synonym: "HCONHCH3" RELATED [NIST_Chemistry_WebBook] synonym: "Methylformamide" RELATED [ChemIDplus] synonym: "Monomethylformamide" RELATED [ChemIDplus] synonym: "N-Methyl-formamide" RELATED [ChEMBL] synonym: "N-Methylformamide" EXACT [KEGG_COMPOUND] synonym: "N-methylformamide" EXACT IUPAC_NAME [IUPAC] synonym: "N-Monomethylformamide" RELATED [NIST_Chemistry_WebBook] synonym: "NMF" RELATED [KEGG_COMPOUND] xref: Beilstein:1098352 {source="Beilstein"} xref: CAS:123-39-7 {source="KEGG COMPOUND"} xref: CAS:123-39-7 {source="NIST Chemistry WebBook"} xref: CAS:123-39-7 {source="ChemIDplus"} xref: Gmelin:917 {source="Gmelin"} xref: HMDB:HMDB0001122 xref: KEGG:C11489 xref: MeSH:C002950 xref: NCIt:C1163 xref: PMID:19634900 {source="Europe PMC"} xref: PMID:24473177 {source="Europe PMC"} xref: PMID:3712373 {source="ChEMBL"} xref: Reaxys:1098352 {source="Reaxys"} xref: SNOMEDCT:117186002 xref: Wikipedia:N-Methylformamide is_a: EFO:0004417 ! amide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C2H5NO" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C2H5NO/c1-3-2-4/h2H,1H3,(H,3,4)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ATHHXGZTWNVVOU-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "59.06720" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "59.03711" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H]C(=O)NC" xsd:string [Term] id: CHEBI:74534 name: Leu-Gly namespace: chebi_ontology def: "A dipeptide formed from L-leucine and glycine residues." [] subset: 3_STAR synonym: "L-Leu-Gly" RELATED [ChEBI] synonym: "L-leucylglycine" EXACT IUPAC_NAME [IUPAC] synonym: "Leucyl-Glycine" RELATED [ChEBI] synonym: "leucylglycine" RELATED [ChEBI] synonym: "LG" RELATED [ChEBI] synonym: "N-L-Leucylglycine" RELATED [ChemIDplus] xref: CAS:686-50-0 {source="ChemIDplus"} xref: HMDB:HMDB0028929 xref: Reaxys:1725452 {source="Reaxys"} is_a: EFO:0004417 ! amide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H16N2O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H16N2O3/c1-5(2)3-6(9)8(13)10-4-7(11)12/h5-6H,3-4,9H2,1-2H3,(H,10,13)(H,11,12)/t6-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LESXFEZIFXFIQR-LURJTMIESA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "188.22420" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "188.11609" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)C[C@H](N)C(=O)NCC(O)=O" xsd:string [Term] id: CHEBI:74640 name: N-acetyl-L-tryptophan namespace: chebi_ontology def: "A N-acetyl-L-amino acid that is the N-acetyl derivative of L-tryptophan." [] subset: 3_STAR synonym: "N-acetyl-L-tryptophan" EXACT IUPAC_NAME [IUPAC] xref: CAS:1218-34-4 {source="ChemIDplus"} xref: HMDB:HMDB0013713 xref: LINCS:LSM-19010 xref: PMID:3141295 {source="Europe PMC"} xref: PMID:6538443 {source="Europe PMC"} xref: PMID:7229743 {source="Europe PMC"} xref: Reaxys:89476 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C13H14N2O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C13H14N2O3/c1-8(16)15-12(13(17)18)6-9-7-14-11-5-3-2-4-10(9)11/h2-5,7,12,14H,6H2,1H3,(H,15,16)(H,17,18)/t12-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DZTHIGRZJZPRDV-LBPRGKRZSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "246.26190" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "246.10044" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(=O)N[C@@H](Cc1c[nH]c2ccccc12)C(O)=O" xsd:string [Term] id: CHEBI:7466 name: nandrolone namespace: chebi_ontology def: "A 3-oxo Delta(4)-steroid that is estr-4-en-3-one substituted by a beta-hydroxy group at position 17." [] subset: 3_STAR synonym: "(17beta)-17-hydroxyestr-4-en-3-one" RELATED [ChemIDplus] synonym: "17beta-hydroxy-19-nor-4-androsten-3-one" RELATED [ChemIDplus] synonym: "17beta-hydroxy-4-estren-3-one" RELATED [ChemIDplus] synonym: "17beta-hydroxyestr-4-en-3-one" EXACT IUPAC_NAME [IUPAC] synonym: "17beta-hydroxyestr-4-en-3-one" RELATED [UniProt] synonym: "19-Norandrostenolone" RELATED [ChemIDplus] synonym: "19-Nortestosterone" RELATED [ChemIDplus] synonym: "4-estren-17beta-ol-3-one" RELATED [ChemIDplus] synonym: "Nandrolone" EXACT [KEGG_COMPOUND] xref: Beilstein:2055849 {source="Beilstein"} xref: Beilstein:4690380 {source="Beilstein"} xref: CAS:434-22-0 {source="ChemIDplus"} xref: CAS:434-22-0 {source="KEGG COMPOUND"} xref: Drug_Central:1879 {source="DrugCentral"} xref: DrugBank:DB00984 xref: Gmelin:1228044 {source="Gmelin"} xref: HMDB:HMDB0002725 xref: KEGG:C07254 xref: KEGG:D08250 xref: MeSH:D009277 xref: NCIt:C29279 xref: PMID:11888015 {source="Europe PMC"} xref: PMID:19055689 {source="Europe PMC"} xref: PMID:20020363 {source="Europe PMC"} xref: PMID:24405322 {source="Europe PMC"} xref: Reaxys:2055849 {source="Reaxys"} xref: SNOMEDCT:126171003 xref: VSDB:1861 xref: Wikipedia:Nandrolone is_a: CHEBI:26764 ! steroid hormone relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H26O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H26O2/c1-18-9-8-14-13-5-3-12(19)10-11(13)2-4-15(14)16(18)6-7-17(18)20/h10,13-17,20H,2-9H2,1H3/t13-,14+,15+,16-,17-,18-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NPAGDVCDWIYMMC-IZPLOLCNSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "274.39780" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "274.19328" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]12CCC(=O)C=C1CC[C@]1([H])[C@]2([H])CC[C@]2(C)[C@@H](O)CC[C@@]12[H]" xsd:string [Term] id: CHEBI:74670 name: 1-oleoyl-2-linoleoyl-sn-glycero-3-phosphocholine namespace: chebi_ontology def: "A phosphatidylcholine 36:3 in which the two acyl substituents at positions 1 and 2 are specified as oleoyl and linoleoyl respectively." [] subset: 3_STAR synonym: "(2R)-2-[(9Z,12Z)-octadeca-9,12-dienoyloxy]-3-[(9Z)-octadec-9-enoyloxy]propyl 2-(trimethylazaniumyl)ethyl phosphate" EXACT IUPAC_NAME [IUPAC] synonym: "1-(9Z)-octadecaenoyl-2-(9Z,12Z)-octadecadienoyl-sn-glycero-3-phosphocholine" RELATED [SUBMITTER] synonym: "1-(9Z)-octadecenoyl-2-(9Z,12Z)-octadecadienoyl-sn-glycero-3-phosphocholine" RELATED [UniProt] synonym: "1-(9Z-octadecenoyl)-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine" RELATED [LIPID_MAPS] synonym: "1-C18:1(omega-9)-2-C18:2(omega-6)-phosphatidylcholine" RELATED [SUBMITTER] synonym: "1-oleoyl-2-linoleoyl-GPC" RELATED [ChEBI] synonym: "1-oleoyl-2-linoleoyl-GPC (18:1/18:2)" RELATED [ChEBI] synonym: "GPC(18:1/18:2)" RELATED [ChEBI] synonym: "PC(18:1(9Z)/18:2(9Z,12Z))" RELATED [LIPID_MAPS] synonym: "PC(18:1/18:2)" RELATED [LIPID_MAPS] synonym: "PC(18:1omega9/18:2omega6)" RELATED [HMDB] synonym: "PC(36:3)" RELATED [HMDB] synonym: "phosphatidylcholine(18:1/18:2)" RELATED [HMDB] synonym: "phosphatidylcholine(18:1omega9/18:2omega6)" RELATED [HMDB] synonym: "phosphatidylcholine(36:3)" RELATED [HMDB] xref: HMDB:HMDB0008105 xref: LIPID_MAPS_instance:LMGP01010895 {source="LIPID MAPS"} xref: Reaxys:6129774 {source="Reaxys"} is_a: CHEBI:64523 ! phosphatidylcholine 36:3 property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C44H82NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C44H82NO8P/c1-6-8-10-12-14-16-18-20-22-24-26-28-30-32-34-36-43(46)50-40-42(41-52-54(48,49)51-39-38-45(3,4)5)53-44(47)37-35-33-31-29-27-25-23-21-19-17-15-13-11-9-7-2/h15,17,20-23,42H,6-14,16,18-19,24-41H2,1-5H3/b17-15-,22-20-,23-21-/t42-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GDWULUGDXGHJIJ-VJHNMZKJSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "784.09750" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "783.57781" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCC\\C=C/CCCCCCCC(=O)OC[C@H](COP([O-])(=O)OCC[N+](C)(C)C)OC(=O)CCCCCCC\\C=C/C\\C=C/CCCCC" xsd:string [Term] id: CHEBI:74753 name: Pro-Ala namespace: chebi_ontology def: "A dipeptide formed from L-proline and L-alanine residues." [] subset: 3_STAR synonym: "L-Pro-L-Ala" RELATED [ChEBI] synonym: "L-prolyl-L-alanine" EXACT IUPAC_NAME [IUPAC] synonym: "PA" RELATED [ChEBI] synonym: "Prolyl-Alanine" RELATED [ChEBI] synonym: "prolylalanine" RELATED [ChEBI] xref: HMDB:HMDB0029010 xref: Reaxys:5527167 {source="Reaxys"} is_a: EFO:0004417 ! amide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H14N2O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H14N2O3/c1-5(8(12)13)10-7(11)6-3-2-4-9-6/h5-6,9H,2-4H2,1H3,(H,10,11)(H,12,13)/t5-,6-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FELJDCNGZFDUNR-WDSKDSINSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "186.20840" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "186.10044" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[C@H](NC(=O)[C@@H]1CCCN1)C(O)=O" xsd:string [Term] id: CHEBI:7476 name: naproxen namespace: chebi_ontology alt_id: CHEBI:603695 def: "A methoxynaphthalene that is 2-methoxynaphthalene substituted by a carboxy ethyl group at position 6. Naproxen is a non-steroidal anti-inflammatory drug commonly used for the reduction of pain, fever, inflammation and stiffness caused by conditions such as osteoarthritis, kidney stones, rheumatoid arthritis, psoriatic arthritis, gout, ankylosing spondylitis, menstrual cramps, tendinitis, bursitis, and for the treatment of primary dysmenorrhea. It works by inhibiting both the COX-1 and COX-2 enzymes." [] subset: 3_STAR synonym: "(+)-(S)-6-Methoxy-alpha-methyl-2-naphthaleneacetic acid" RELATED [ChemIDplus] synonym: "(+)-(S)-Naproxen" RELATED [ChemIDplus] synonym: "(+)-2-(6-Methoxy-2-naphthyl)propionic acid" RELATED [ChemIDplus] synonym: "(+)-2-(Methoxy-2-naphthyl)-propionic acid" RELATED [ChemIDplus] synonym: "(+)-2-(Methoxy-2-naphthyl)-propionsaeure" RELATED [ChemIDplus] synonym: "(+)-Naproxen" RELATED [ChemIDplus] synonym: "(2S)-2-(6-methoxynaphthalen-2-yl)propanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "(S)-(+)-2-(6-Methoxy-2-naphthyl)propionic acid" RELATED [ChemIDplus] synonym: "(S)-(+)-Naproxen" RELATED [ChemIDplus] synonym: "(S)-2-(6-Methoxy-2-naphthyl)propanoic acid" RELATED [ChemIDplus] synonym: "(S)-2-(6-Methoxy-2-naphthyl)propionic acid" RELATED [ChemIDplus] synonym: "(S)-6-Methoxy-alpha-methyl-2-naphthaleneacetic acid" RELATED [ChemIDplus] synonym: "(S)-Naproxen" RELATED [ChemIDplus] synonym: "Naproxen" EXACT [KEGG_COMPOUND] synonym: "naproxen" EXACT [ChEMBL] synonym: "naproxen" RELATED INN [DrugBank] synonym: "naproxene" RELATED INN [ChemIDplus] synonym: "naproxeno" RELATED INN [ChemIDplus] synonym: "naproxenum" RELATED INN [ChemIDplus] xref: Beilstein:3591067 {source="Beilstein"} xref: CAS:22204-53-1 {source="KEGG COMPOUND"} xref: CAS:22204-53-1 {source="ChemIDplus"} xref: Drug_Central:1883 {source="DrugCentral"} xref: DrugBank:DB00788 xref: HMDB:HMDB0001923 xref: KEGG:D00118 xref: LINCS:LSM-5689 xref: Patent:US3904682 xref: Patent:US4009197 xref: PMID:18044350 {source="Europe PMC"} xref: PMID:24478225 {source="Europe PMC"} xref: PMID:9784154 {source="ChEMBL"} xref: Wikipedia:Naproxen is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C14H14O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C14H14O3/c1-9(14(15)16)10-3-4-12-8-13(17-2)6-5-11(12)7-10/h3-9H,1-2H3,(H,15,16)/t9-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CMWTZPSULFXXJA-VIFPVBQESA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "230.25920" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "230.09429" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "COc1ccc2cc(ccc2c1)[C@H](C)C(O)=O" xsd:string [Term] id: CHEBI:74767 name: Pro-Hyp namespace: chebi_ontology alt_id: CHEBI:74516 def: "A dipeptide composed of L-proline and L-hydroxyproline residues. It is a biomarker for bone collagen degradation." [] subset: 3_STAR synonym: "L-Pro-L-Hyp" RELATED [ChEBI] synonym: "L-prolyl-(4R)-4-hydroxy-L-proline" EXACT IUPAC_NAME [IUPAC] synonym: "L-Prolyl-L-hydroxyproline" RELATED [HMDB] synonym: "Prolylhydroxyproline" RELATED [HMDB] xref: CAS:18684-24-7 {source="HMDB"} xref: HMDB:HMDB0006695 xref: PMID:12636053 {source="Europe PMC"} xref: PMID:22382331 {source="Europe PMC"} xref: Reaxys:21943 {source="Reaxys"} is_a: EFO:0004417 ! amide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H16N2O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H16N2O4/c13-6-4-8(10(15)16)12(5-6)9(14)7-2-1-3-11-7/h6-8,11,13H,1-5H2,(H,15,16)/t6-,7+,8+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ONPXCLZMBSJLSP-CSMHCCOUSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "228.24500" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "228.11101" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O[C@@H]1C[C@H](N(C1)C(=O)[C@@H]1CCCN1)C(O)=O" xsd:string [Term] id: CHEBI:74965 name: 1-stearoyl-2-arachidonoyl-sn-glycero-3-phosphocholine namespace: chebi_ontology def: "A phosphatidylcholine 38:4 in which the two acyl substituents at positions 1 and 2 are specified as stearoyl and arachidonoyl respectively." [] subset: 3_STAR synonym: "(2R)-2-[(5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoyloxy]-3-(octadecanoyloxy)propyl 2-(trimethylazaniumyl)ethyl phosphate" EXACT IUPAC_NAME [IUPAC] synonym: "(2R)-2-[(5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoyloxy]-3-(stearoyloxy)propyl 2-(trimethylazaniumyl)ethyl phosphate" RELATED [IUPAC] synonym: "1-C18:0-2-C20:4(omega-6)-phosphatidylcholine" RELATED [SUBMITTER] synonym: "1-octadecanoyl-2-(5Z,8Z,11Z,14Z)-icosatetraenoyl-sn-glycero-3-phosphocholine" RELATED [SUBMITTER] synonym: "1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphocholine" RELATED [LIPID_MAPS] synonym: "1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphocholine" RELATED [UniProt] synonym: "1-stearoyl-2-arachidonoyl-GPC" RELATED [ChEBI] synonym: "1-stearoyl-2-arachidonoyl-GPC (18:0/20:4)" RELATED [ChEBI] synonym: "1-stearoyl-2-arachidonoylphosphatidylcholine" RELATED [LIPID_MAPS] synonym: "GPC(18:0/20:4)" RELATED [ChEBI] synonym: "PC(18:0/20:4(5Z,8Z,11Z,14Z))" RELATED [LIPID_MAPS] synonym: "PC(18:0/20:4)" RELATED [LIPID_MAPS] synonym: "PC(18:0/20:4n6)" RELATED [HMDB] synonym: "PC(18:0/20:4omega6)" RELATED [HMDB] synonym: "PC(18:0/20:4w6)" RELATED [HMDB] synonym: "PC(38:4)" RELATED [HMDB] synonym: "Phosphatidylcholine(18:0/20:4)" RELATED [HMDB] synonym: "Phosphatidylcholine(18:0/20:4n6)" RELATED [HMDB] synonym: "Phosphatidylcholine(18:0/20:4omega6)" RELATED [LIPID_MAPS] synonym: "Phosphatidylcholine(18:0/20:4w6)" RELATED [HMDB] synonym: "Phosphatidylcholine(38:4)" RELATED [HMDB] xref: HMDB:HMDB0008048 xref: LIPID_MAPS_instance:LMGP01010802 {source="LIPID MAPS"} xref: Reaxys:6090084 {source="Reaxys"} is_a: CHEBI:64526 ! phosphatidylcholine 38:4 property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C46H84NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C46H84NO8P/c1-6-8-10-12-14-16-18-20-22-23-25-27-29-31-33-35-37-39-46(49)55-44(43-54-56(50,51)53-41-40-47(3,4)5)42-52-45(48)38-36-34-32-30-28-26-24-21-19-17-15-13-11-9-7-2/h14,16,20,22,25,27,31,33,44H,6-13,15,17-19,21,23-24,26,28-30,32,34-43H2,1-5H3/b16-14-,22-20-,27-25-,33-31-/t44-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PSVRFUPOQYJOOZ-QNPWAGBNSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "810.137" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "809.59346" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O=C(CCC/C=C\\C/C=C\\C/C=C\\C/C=C\\CCCCC)O[C@@H](COP(OCC[N+](C)(C)C)(=O)[O-])COC(=O)CCCCCCCCCCCCCCCCC" xsd:string [Term] id: CHEBI:75034 name: 1-stearoyl-2-oleoyl-sn-glycero-3-phosphocholine namespace: chebi_ontology alt_id: CHEBI:73861 def: "A phosphatidylcholine 36:1 in which the phosphatidyl acyl groups at positions 1 and 2 are stearoyl and oleoyl respectively." [] subset: 3_STAR synonym: "(2R)-3-(octadecanoyloxy)-2-[(9Z)-octadec-9-enoyloxy]propyl 2-(trimethylammonio)ethyl phosphate" RELATED [IUPAC] synonym: "(2R)-3-(octadecanoyloxy)-2-[(9Z)-octadec-9-enoyloxy]propyl 2-(trimethylazaniumyl)ethyl phosphate" EXACT IUPAC_NAME [IUPAC] synonym: "1-18:0-2-18:1-phosphatidylcholine" RELATED [MetaCyc] synonym: "1-octadecanoyl-2-(9Z)-octadecenoyl-sn-glycero-3-phosphocholine" RELATED [SUBMITTER] synonym: "1-octadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine" RELATED [LIPID_MAPS] synonym: "1-octadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine" RELATED [UniProt] synonym: "1-stearoyl-2-oleoyl-GPC" RELATED [ChEBI] synonym: "1-stearoyl-2-oleoyl-GPC (18:0/18:1)" RELATED [ChEBI] synonym: "1-Stearoyl-2-oleoyl-sn-glycero-3-phosphocholine" EXACT [HMDB] synonym: "1-Steroyl-2-oleoylphosphatidylcholine" RELATED [ChemIDplus] synonym: "18:0-18:1-PC" RELATED [MetaCyc] synonym: "GPC(18:0/18:1)" RELATED [ChEBI] synonym: "GPCho 18:0/18:1(9Z)" RELATED [ChEBI] synonym: "L-alpha-1-stearoyl-2-oleoyl lecithin" RELATED [LIPID_MAPS] synonym: "PC 18:0/18:1(9Z)" RELATED [ChEBI] synonym: "PC(18:0/18:1(9Z))" RELATED [LIPID_MAPS] synonym: "PC(18:0/18:1n9)" RELATED [HMDB] synonym: "PC(18:0/18:1omega9)" RELATED [HMDB] synonym: "PC(18:0/18:1w9)" RELATED [HMDB] synonym: "phosphatidylcholine(18:0/18:1(9Z))" RELATED [ChEBI] synonym: "Phosphatidylcholine(18:0/18:1)" RELATED [HMDB] synonym: "Phosphatidylcholine(18:0/18:1n9)" RELATED [HMDB] synonym: "Phosphatidylcholine(18:0/18:1omega9)" RELATED [HMDB] synonym: "Phosphatidylcholine(18:0/18:1w9)" RELATED [HMDB] synonym: "Phosphatidylcholine(36:1)" RELATED [HMDB] synonym: "SOPC" RELATED [LIPID_MAPS] xref: CAS:6753-56-6 {source="ChemIDplus"} xref: HMDB:HMDB0008038 xref: LIPID_MAPS_instance:LMGP01010761 {source="LIPID MAPS"} xref: MetaCyc:CPD-8278 xref: PMID:25642819 {source="Europe PMC"} xref: Reaxys:6089730 {source="Reaxys"} is_a: CHEBI:66857 ! phosphatidylcholine 36:1 property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C44H86NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C44H86NO8P/c1-6-8-10-12-14-16-18-20-22-24-26-28-30-32-34-36-43(46)50-40-42(41-52-54(48,49)51-39-38-45(3,4)5)53-44(47)37-35-33-31-29-27-25-23-21-19-17-15-13-11-9-7-2/h21,23,42H,6-20,22,24-41H2,1-5H3/b23-21-/t42-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ATHVAWFAEPLPPQ-VRDBWYNSSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "788.131" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "787.60911" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O(P(OC[C@@H](COC(CCCCCCCCCCCCCCCCC)=O)OC(CCCCCCC/C=C\\CCCCCCCC)=O)(=O)[O-])CC[N+](C)(C)C" xsd:string [Term] id: CHEBI:75062 name: 1-myristoyl-2-palmitoyl-sn-glycero-3-phosphocholine namespace: chebi_ontology def: "A phosphatidylcholine 30:0 in which the phosphatidyl acyl groups at positions 1 and 2 are myristoyl (tetradecanoyl) and palmitoyl (hexadecanoyl) respectively." [] subset: 3_STAR synonym: "(2R)-2-(hexadecanoyloxy)-3-(tetradecanoyloxy)propyl 2-(trimethylazaniumyl)ethyl phosphate" EXACT IUPAC_NAME [IUPAC] synonym: "1-myristoyl-2-palmitoyl-GPC" RELATED [ChEBI] synonym: "1-myristoyl-2-palmitoyl-GPC (14:0/16:0)" RELATED [ChEBI] synonym: "1-Myristoyl-2-palmitoylphosphatidylcholine" RELATED [ChemIDplus] synonym: "1-tetradecanoyl-2-hexadecanoyl-sn-glycero-3-phosphocholine" RELATED [SUBMITTER] synonym: "1-tetradecanoyl-2-hexadecanoyl-sn-glycero-3-phosphocholine" RELATED [UniProt] synonym: "1-tetradecanoyl-2-hexadecanoylphosphatidylcholine" RELATED [SUBMITTER] synonym: "GPC(14:0/16:0)" RELATED [ChEBI] synonym: "MPPC" RELATED [ChemIDplus] synonym: "PC(14:0/16:0)" RELATED [SUBMITTER] synonym: "PC(30:0)" RELATED [HMDB] synonym: "Phosphatidylcholine(14:0/16:0)" RELATED [HMDB] synonym: "Phosphatidylcholine(30:0)" RELATED [HMDB] xref: CAS:69525-80-0 {source="ChemIDplus"} xref: HMDB:HMDB0007869 xref: LIPID_MAPS_instance:LMGP01010481 {source="LIPID MAPS"} xref: Patent:US2008234232 xref: PMID:8110796 {source="Europe PMC"} xref: Reaxys:18485806 {source="Reaxys"} is_a: CHEBI:65303 ! phosphatidylcholine 30:0 property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C38H76NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C38H76NO8P/c1-6-8-10-12-14-16-18-19-21-23-25-27-29-31-38(41)47-36(35-46-48(42,43)45-33-32-39(3,4)5)34-44-37(40)30-28-26-24-22-20-17-15-13-11-9-7-2/h36H,6-35H2,1-5H3/t36-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RFVFQQWKPSOBED-PSXMRANNSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "705.987" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "705.53086" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(C[N+](C)(C)C)OP(=O)([O-])OC[C@H](OC(CCCCCCCCCCCCCCC)=O)COC(=O)CCCCCCCCCCCCC" xsd:string [Term] id: CHEBI:75168 name: 1-oleoyl-sn-glycero-3-phosphoethanolamine namespace: chebi_ontology def: "A 1-acyl-sn-glycero-3-phosphoethanolamine in which the 1-acyl group is specified as oleoyl." [] subset: 3_STAR synonym: "(2R)-3-{[(2-aminoethoxy)(hydroxy)phosphoryl]oxy}-2-hydroxypropyl (9Z)-octadec-9-enoate" EXACT IUPAC_NAME [IUPAC] synonym: "(9Z-octadecenoyl)-lysophosphatidylethanolamine" RELATED [HMDB] synonym: "1-(9Z)-octadecenoyl-sn-glycero-3-phosphoethanolamine" RELATED [ChEBI] synonym: "1-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine" RELATED [LIPID_MAPS] synonym: "1-18:1-lysoPE" RELATED [MetaCyc] synonym: "1-18:1-lysophosphatidylethanolamine" RELATED [MetaCyc] synonym: "1-C18:1(omega-9)-lysophosphatidylethanolamine" RELATED [ChEBI] synonym: "LPE(18:1)" RELATED [HMDB] synonym: "LPE(18:1/0:0)" RELATED [HMDB] synonym: "LPE(18:1omega9/0:0)" RELATED [HMDB] synonym: "Lyso-PE(18:1)" RELATED [HMDB] synonym: "Lyso-PE(18:1/0:0)" RELATED [HMDB] synonym: "Lyso-PE(18:1omega9/0:0)" RELATED [HMDB] synonym: "LysoPE(18:1(9Z)/0:0)" RELATED [HMDB] synonym: "LysoPE(18:1)" RELATED [HMDB] synonym: "LysoPE(18:1/0:0)" RELATED [HMDB] synonym: "LysoPE(18:1omega9/0:0)" RELATED [HMDB] synonym: "Lysophosphatidylethanolamine(18:1)" RELATED [HMDB] synonym: "Lysophosphatidylethanolamine(18:1/0:0)" RELATED [HMDB] synonym: "Lysophosphatidylethanolamine(18:1omega9/0:0)" RELATED [HMDB] synonym: "PE(18:1(9Z)/0:0)" RELATED [LIPID_MAPS] synonym: "PE(18:1/0:0)" RELATED [LIPID_MAPS] xref: HMDB:HMDB0011506 xref: LIPID_MAPS_instance:LMGP02050004 {source="LIPID MAPS"} xref: MetaCyc:CPD-8355 xref: Reaxys:6300739 {source="Reaxys"} is_a: CHEBI:64574 ! lysophosphatidylethanolamine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C23H46NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C23H46NO7P/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-23(26)29-20-22(25)21-31-32(27,28)30-19-18-24/h9-10,22,25H,2-8,11-21,24H2,1H3,(H,27,28)/b10-9-/t22-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PYVRVRFVLRNJLY-MZMPXXGTSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "479.58760" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "479.30119" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCC\\C=C/CCCCCCCC(=O)OC[C@@H](O)COP(O)(=O)OCCN" xsd:string [Term] id: CHEBI:75342 name: 1-oleoylglycerol namespace: chebi_ontology def: "A 1-monoglyceride where the acyl group is oleoyl." [] subset: 3_STAR synonym: "1-(9Z-octadecenoyl)-glycerol" RELATED [UniProt] synonym: "1-(9Z-octadecenoyl)-rac-glycerol" RELATED [LIPID_MAPS] synonym: "1-monoolein" RELATED [ChemIDplus] synonym: "1-monooleoyl-rac-glycerol" RELATED [ChemIDplus] synonym: "1-monooleoylglycerol" RELATED [SUBMITTER] synonym: "1-oleoyl-rac-glycerol" RELATED [LIPID_MAPS] synonym: "1-oleoylglycerol" EXACT [ChemIDplus] synonym: "2,3-dihydroxypropyl (9Z)-octadec-9-enoate" EXACT IUPAC_NAME [IUPAC] synonym: "2,3-dihydroxypropyl oleate" RELATED [ChemIDplus] synonym: "MG (18:1/0:0/0:0)" RELATED [SUBMITTER] xref: CAS:111-03-5 {source="ChemIDplus"} xref: LIPID_MAPS_instance:LMGL01010005 {source="LIPID MAPS"} xref: MetaCyc:CPD-11690 xref: PMID:11283027 {source="Europe PMC"} xref: PMID:22651926 {source="Europe PMC"} xref: PMID:6269644 {source="Europe PMC"} xref: Reaxys:1728977 {source="Reaxys"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C21H40O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C21H40O4/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-21(24)25-19-20(23)18-22/h9-10,20,22-23H,2-8,11-19H2,1H3/b10-9-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RZRNAYUHWVFMIP-KTKRTIGZSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "356.53990" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "356.29266" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCC\\C=C/CCCCCCCC(=O)OCC(O)CO" xsd:string [Term] id: CHEBI:75450 name: 1-oleoyl-2-linoleoyl-sn-glycerol namespace: chebi_ontology def: "A 1,2-diacyl-sn-glycerol where oleoyl and linoleoyl are the 1- and 2-acyl groups respectively." [] subset: 3_STAR synonym: "(2S)-1-hydroxy-3-[(9Z)-octadec-9-enoyloxy]propan-2-yl (9Z,12Z)-octadeca-9,12-dienoate" EXACT IUPAC_NAME [IUPAC] synonym: "1-(9Z-octadecenoyl)-2-(9Z,12Z-octadecadienoyl)-sn-glycerol" RELATED [UniProt] synonym: "DAG(18:1/18:2)" RELATED [HMDB] synonym: "DAG(18:1n9/18:2n6)" RELATED [HMDB] synonym: "DAG(18:1w9/18:2w6)" RELATED [HMDB] synonym: "DAG(36:3)" RELATED [HMDB] synonym: "DG (18:1(n-9)/18:2(n-6)/0:0)" RELATED [SUBMITTER] synonym: "DG(18:1/18:2)" RELATED [HMDB] synonym: "DG(18:1/18:2/0:0)" RELATED [LIPID_MAPS] synonym: "DG(18:1n9/18:2n6)" RELATED [HMDB] synonym: "DG(18:1w9/18:2w6)" RELATED [HMDB] synonym: "Diacylglycerol(18:1/18:2)" RELATED [HMDB] synonym: "Diacylglycerol(18:1n9/18:2n6)" RELATED [HMDB] synonym: "Diacylglycerol(18:1w9/18:2w6)" RELATED [HMDB] synonym: "Diacylglycerol(36:3)" RELATED [HMDB] xref: HMDB:HMDB0007219 xref: LIPID_MAPS_instance:LMGL02010056 {source="LIPID MAPS"} is_a: CHEBI:18035 ! diglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C39H70O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C39H70O5/c1-3-5-7-9-11-13-15-17-19-21-23-25-27-29-31-33-38(41)43-36-37(35-40)44-39(42)34-32-30-28-26-24-22-20-18-16-14-12-10-8-6-4-2/h12,14,17-20,37,40H,3-11,13,15-16,21-36H2,1-2H3/b14-12-,19-17-,20-18-/t37-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BLZVZPYMHLXLHG-JOBMVARSSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "618.97010" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "618.52233" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCC\\C=C/CCCCCCCC(=O)OC[C@H](CO)OC(=O)CCCCCCC\\C=C/C\\C=C/CCCCC" xsd:string [Term] id: CHEBI:75568 name: 1-monolinolein namespace: chebi_ontology def: "A 1-monoglyceride that has octadecadienoyl (linoleoyl) as the acyl group." [] subset: 3_STAR synonym: "1-(9Z,12Z-octadecadienoyl)-glycerol" RELATED [UniProt] synonym: "1-Linoleoylglycerol" RELATED [ChEBI] synonym: "1-Linoleylglycerol" RELATED [ChemIDplus] synonym: "1-monolinolein" EXACT [ChEBI] synonym: "2,3-dihydroxypropyl (9Z,12Z)-octadeca-9,12-dienoate" EXACT IUPAC_NAME [IUPAC] synonym: "2,3-Dihydroxypropyl linoleate" RELATED [ChemIDplus] synonym: "alpha-Glyceryl linoleate" RELATED [ChemIDplus] synonym: "Glycerol 1-monolinolate" RELATED [ChemIDplus] synonym: "monolinolein" RELATED [ChEBI] synonym: "octadeca-9,12-dienoic acid-(2,3-dihydroxy-propyl ester)" RELATED [ChEBI] xref: CAS:2277-28-3 {source="ChemIDplus"} xref: PMID:14661857 {source="Europe PMC"} xref: PMID:18973338 {source="Europe PMC"} xref: PMID:3707358 {source="Europe PMC"} xref: Reaxys:1802720 {source="Reaxys"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C21H38O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C21H38O4/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-21(24)25-19-20(23)18-22/h6-7,9-10,20,22-23H,2-5,8,11-19H2,1H3/b7-6-,10-9-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WECGLUPZRHILCT-HZJYTTRNSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "354.52400" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "354.27701" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCC\\C=C/C\\C=C/CCCCCCCC(=O)OCC(O)CO" xsd:string [Term] id: CHEBI:7565 name: nifedipine namespace: chebi_ontology subset: 3_STAR synonym: "4-(2'-Nitrophenyl)-2,6-dimethyl-1,4-dihydropyridin-3,5-dicarbonsaeuredimethylester" RELATED [ChemIDplus] synonym: "Adalat" RELATED BRAND_NAME [DrugBank] synonym: "Adapine" RELATED BRAND_NAME [DrugBank] synonym: "Coracten" RELATED BRAND_NAME [DrugBank] synonym: "dimethyl 2,6-dimethyl-4-(2-nitrophenyl)-1,4-dihydropyridine-3,5-dicarboxylate" EXACT IUPAC_NAME [IUPAC] synonym: "Nifecard" RELATED BRAND_NAME [DrugBank] synonym: "Nifecor" RELATED BRAND_NAME [DrugBank] synonym: "Nifedipine" EXACT [KEGG_COMPOUND] synonym: "nifedipine" RELATED INN [ChemIDplus] synonym: "nifedipino" RELATED INN [ChemIDplus] synonym: "nifedipinum" RELATED INN [ChemIDplus] synonym: "Nifedipres" RELATED BRAND_NAME [DrugBank] synonym: "Procardia" RELATED BRAND_NAME [DrugBank] xref: Beilstein:497773 {source="Beilstein"} xref: CAS:21829-25-4 {source="ChemIDplus"} xref: CAS:21829-25-4 {source="NIST Chemistry WebBook"} xref: CAS:21829-25-4 {source="KEGG COMPOUND"} xref: Drug_Central:1922 {source="DrugCentral"} xref: DrugBank:DB01115 xref: KEGG:C07266 xref: KEGG:D00437 xref: LINCS:LSM-4176 xref: MeSH:D009543 xref: NCIt:C29290 xref: SNOMEDCT:387490003 xref: SNOMEDCT:85272000 xref: Wikipedia:Nifedipine is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C17H18N2O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C17H18N2O6/c1-9-13(16(20)24-3)15(14(10(2)18-9)17(21)25-4)11-7-5-6-8-12(11)19(22)23/h5-8,15,18H,1-4H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HYIMSNHJOBLJNT-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "346.33460" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "346.11649" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "COC(=O)C1=C(C)NC(C)=C(C1c1ccccc1[N+]([O-])=O)C(=O)OC" xsd:string [Term] id: CHEBI:7575 name: nimodipine namespace: chebi_ontology def: "A dihydropyridine that is 1,4-dihydropyridine which is substituted by methyl groups at positions 2 and 6, a (2-methoxyethoxy)carbonyl group at position 3, a m-nitrophenyl group at position 4, and an isopropoxycarbonyl group at position 5. An L-type calcium channel blocker, it acts particularly on cerebral circulation, and is used both orally and intravenously for the prevention and treatment of subarachnoid hemorrhage from ruptured intracranial aneurysm." [] subset: 3_STAR synonym: "2,6-dimethyl-4-(3'-nitrophenyl)-1,4-dihydropyridine-3,5-dicarboxylic acid 3-beta-methoxyethyl ester 5-isopropyl ester" RELATED [ChEBI] synonym: "2-methoxyethyl propan-2-yl 2,6-dimethyl-4-(3-nitrophenyl)-1,4-dihydropyridine-3,5-dicarboxylate" EXACT IUPAC_NAME [IUPAC] synonym: "BAY e 9736" RELATED [ChemIDplus] synonym: "isopropyl 2-methoxyethyl 1,4-dihydro-2,6-dimethyl-4-(3-nitrophenyl)-3,5-pyridinedicarboxylate" RELATED [ChEBI] synonym: "isopropyl 2-methoxyethyl 1,4-dihydro-2,6-dimethyl-4-(m-nitrophenyl)-3,5-pyridinedicarboxylate" RELATED [ChemIDplus] synonym: "Nimodipine" EXACT [KEGG_COMPOUND] synonym: "nimodipine" RELATED INN [ChemIDplus] synonym: "nimodipino" RELATED INN [ChemIDplus] synonym: "nimodipinum" RELATED INN [ChemIDplus] synonym: "Nimotop" RELATED BRAND_NAME [ChemIDplus] synonym: "Periplum" RELATED BRAND_NAME [ChemIDplus] xref: CAS:66085-59-4 {source="KEGG COMPOUND"} xref: CAS:66085-59-4 {source="ChemIDplus"} xref: CAS:66085-59-4 {source="NIST Chemistry WebBook"} xref: ChEMBL:465248 xref: ChemIDplus:66085-59-4 xref: CiteXplore:12137606 xref: CiteXplore:16180362 xref: CiteXplore:17110283 xref: CiteXplore:21869451 xref: CiteXplore:22262041 xref: CiteXplore:22300914 xref: CiteXplore:8519001 xref: Drug_Central:1937 {source="DrugCentral"} xref: DrugBank:DB00393 xref: KEGG COMPOUND:66085-59-4 xref: KEGG COMPOUND:C07267 xref: KEGG DRUG:D00438 xref: KEGG:C07267 xref: KEGG:D00438 xref: LINCS:LSM-1659 xref: MeSH:D009553 xref: NCIt:C692 xref: NIST Chemistry WebBook:66085-59-4 xref: Patent:DE2117571 xref: Patent:US3799934 xref: PMID:12137606 {source="Europe PMC"} xref: PMID:16180362 {source="Europe PMC"} xref: PMID:17110283 {source="Europe PMC"} xref: PMID:21869451 {source="Europe PMC"} xref: PMID:22262041 {source="Europe PMC"} xref: PMID:22300914 {source="Europe PMC"} xref: PMID:8519001 {source="Europe PMC"} xref: Reaxys:459792 {source="Reaxys"} xref: SNOMEDCT:387502003 xref: SNOMEDCT:87285001 xref: Wikipedia:Nimodipine is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:35620 ! vasodilator agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C21H26N2O7" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C21H26N2O7/c1-12(2)30-21(25)18-14(4)22-13(3)17(20(24)29-10-9-28-5)19(18)15-7-6-8-16(11-15)23(26)27/h6-8,11-12,19,22H,9-10H2,1-5H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UIAGMCDKSXEBJQ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "418.44030" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "418.17400" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "COCCOC(=O)C1=C(C)NC(C)=C(C1c1cccc(c1)[N+]([O-])=O)C(=O)OC(C)C" xsd:string [Term] id: CHEBI:75927 name: (R)-2-hydroxyhexadecanoate namespace: chebi_ontology def: "The R-enantiomer of 2-hydroxyhexadecanoate." [] subset: 3_STAR synonym: "(2R)-2-hydroxyhexadecanoate" EXACT IUPAC_NAME [IUPAC] synonym: "(R)-2-hydroxyhexadecanoate" EXACT [UniProt] synonym: "(R)-2-hydroxypalmitate" RELATED [ChEBI] xref: MetaCyc:CPD-14716 is_a: CHEBI:65097 ! 2-hydroxyhexadecanoate property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C16H31O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C16H32O3/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15(17)16(18)19/h15,17H,2-14H2,1H3,(H,18,19)/p-1/t15-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JGHSBPIZNUXPLA-OAHLLOKOSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "271.41550" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "271.22787" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCCCCCCCC[C@@H](O)C([O-])=O" xsd:string [Term] id: CHEBI:75928 name: (S)-2-hydroxyhexadecanoate namespace: chebi_ontology def: "The S-enantiomer of 2-hydroxypalmitate." [] subset: 3_STAR synonym: "(2S)-2-hydroxyhexadecanoate" EXACT IUPAC_NAME [IUPAC] synonym: "(S)-2-hydroxyhexadecanoate" EXACT [UniProt] synonym: "(S)-2-hydroxypalmitate" RELATED [ChEBI] is_a: CHEBI:65097 ! 2-hydroxyhexadecanoate property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C16H31O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C16H32O3/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15(17)16(18)19/h15,17H,2-14H2,1H3,(H,18,19)/p-1/t15-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JGHSBPIZNUXPLA-HNNXBMFYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "271.41550" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "271.22787" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCCCCCCCC[C@H](O)C([O-])=O" xsd:string [Term] id: CHEBI:76004 name: dimethyl fumarate namespace: chebi_ontology def: "An enoate ester resulting from the formal condensation of both carboxy groups of fumaric acid with methanol. Used for treatment of adults with relapsing forms of multiple sclerosis." [] subset: 3_STAR synonym: "(E)-But-2-enedioic acid dimethyl ester" RELATED [NIST_Chemistry_WebBook] synonym: "1,2-bis(methoxycarbonyl)-trans-ethylene" RELATED [HMDB] synonym: "dimethyl (2E)-but-2-enedioate" EXACT IUPAC_NAME [IUPAC] synonym: "Dimethyl trans-ethylenedicarboxylate" RELATED [ChemIDplus] synonym: "Fumaric acid, dimethyl ester" RELATED [ChemIDplus] synonym: "Tecfidera" RELATED [KEGG_DRUG] synonym: "trans-1,2-Ethylenedicarboxylic acid dimethyl ester" RELATED [ChemIDplus] synonym: "trans-Butenedioic acid dimethyl ester" RELATED [ChemIDplus] xref: CAS:624-49-7 {source="KEGG DRUG"} xref: CAS:624-49-7 {source="ChemIDplus"} xref: CAS:624-49-7 {source="NIST Chemistry WebBook"} xref: Drug_Central:4757 {source="DrugCentral"} xref: DrugBank:DB08908 xref: HMDB:HMDB0031257 xref: KEGG:D03846 xref: Patent:US2008089861 xref: Patent:WO2011100589 xref: PMID:23946617 {source="Europe PMC"} xref: PMID:24061646 {source="Europe PMC"} xref: PMID:24131282 {source="Europe PMC"} xref: Reaxys:774590 {source="Reaxys"} xref: Wikipedia:Dimethyl_fumarate is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H8O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H8O4/c1-9-5(7)3-4-6(8)10-2/h3-4H,1-2H3/b4-3+" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LDCRTTXIJACKKU-ONEGZZNKSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "144.12530" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "144.04226" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "COC(=O)\\C=C\\C(=O)OC" xsd:string [Term] id: CHEBI:76071 name: 2-oleoyl-sn-glycero-3-phosphocholine namespace: chebi_ontology def: "A lysophosphatidylcholine 18:1 in which the acyl group is specified as oleoyl and is located at position 2." [] subset: 3_STAR synonym: "(2R)-3-hydroxy-2-[(9Z)-octadec-9-enoyloxy]propyl 2-(trimethylazaniumyl)ethyl phosphate" EXACT IUPAC_NAME [IUPAC] synonym: "2-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine" RELATED [LIPID_MAPS] synonym: "2-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine" RELATED [UniProt] synonym: "2-18:1(omega-9) LPC" RELATED [SUBMITTER] synonym: "PC(0:0/18:1(9Z))" RELATED [LIPID_MAPS] synonym: "PC(0:0/18:1)" RELATED [LIPID_MAPS] xref: HMDB:HMDB0061701 xref: LIPID_MAPS_instance:LMGP01050082 {source="LIPID MAPS"} xref: Reaxys:9025730 {source="Reaxys"} is_a: CHEBI:64566 ! lysophosphatidylcholine 18:1 property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C26H52NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C26H52NO7P/c1-5-6-7-8-9-10-11-12-13-14-15-16-17-18-19-20-26(29)34-25(23-28)24-33-35(30,31)32-22-21-27(2,3)4/h12-13,25,28H,5-11,14-24H2,1-4H3/b13-12-/t25-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SULIDBRAXVDKBU-PTGWMXDISA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "521.66730" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "521.34814" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCC\\C=C/CCCCCCCC(=O)O[C@H](CO)COP([O-])(=O)OCC[N+](C)(C)C" xsd:string [Term] id: CHEBI:76078 name: 2-palmitoyl-sn-glycero-3-phosphocholine namespace: chebi_ontology def: "A lysophosphatidylcholine 16:0 in which the acyl group is specified as palmitoyl (hexadecanoyl) and is located at position 2." [] subset: 3_STAR synonym: "(2R)-2-(hexadecanoyloxy)-3-hydroxypropyl 2-(trimethylazaniumyl)ethyl phosphate" EXACT IUPAC_NAME [IUPAC] synonym: "(2R)-3-hydroxy-2-(palmitoyloxy)propyl 2-(trimethylazaniumyl)ethyl phosphate" RELATED [IUPAC] synonym: "2-hexadecanoyl-sn-glycero-3-phosphocholine" RELATED [UniProt] synonym: "2-palmitoyllysophosphatidylcholine" RELATED [SUBMITTER] synonym: "PC(0:0/16:0)" RELATED [LIPID_MAPS] xref: HMDB:HMDB0061702 xref: LIPID_MAPS_instance:LMGP01050074 {source="LIPID MAPS"} xref: PMID:22608409 {source="Europe PMC"} xref: Reaxys:9528323 {source="Reaxys"} is_a: CHEBI:64563 ! lysophosphatidylcholine 16:0 property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C24H50NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C24H50NO7P/c1-5-6-7-8-9-10-11-12-13-14-15-16-17-18-24(27)32-23(21-26)22-31-33(28,29)30-20-19-25(2,3)4/h23,26H,5-22H2,1-4H3/t23-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NEGQHKSYEYVFTD-HSZRJFAPSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "495.63010" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "495.33249" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCCCCCCCCCC(=O)O[C@H](CO)COP([O-])(=O)OCC[N+](C)(C)C" xsd:string [Term] id: CHEBI:76084 name: 2-linoleoyl-sn-glycero-3-phosphocholine namespace: chebi_ontology alt_id: CHEBI:84021 def: "A lysophosphatidylcholine 18:2 in which the acyl group is specified as linoleoyl and is located at position 2." [] subset: 3_STAR synonym: "(2R)-3-hydroxy-2-[(9Z,12Z)-octadeca-9,12-dienoyloxy]propyl 2-(trimethylazaniumyl)ethyl phosphate" EXACT IUPAC_NAME [IUPAC] synonym: "2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine" RELATED [UniProt] synonym: "2-linoleoyllysophosphatidylcholine" RELATED [SUBMITTER] synonym: "LPC[0:0/18:2(omega-6)]" RELATED [SUBMITTER] xref: HMDB:HMDB0061700 xref: Reaxys:6164428 {source="Reaxys"} is_a: CHEBI:64549 ! lysophosphatidylcholine 18:2 property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C26H50NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C26H50NO7P/c1-5-6-7-8-9-10-11-12-13-14-15-16-17-18-19-20-26(29)34-25(23-28)24-33-35(30,31)32-22-21-27(2,3)4/h9-10,12-13,25,28H,5-8,11,14-24H2,1-4H3/b10-9-,13-12-/t25-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LSUXCWJOIAWGOU-FTJOPAKQSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "519.65150" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "519.33249" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCC\\C=C/C\\C=C/CCCCCCCC(=O)O[C@H](CO)COP([O-])(=O)OCC[N+](C)(C)C" xsd:string [Term] id: CHEBI:76233 name: 2-linoleoyl-sn-glycero-3-phosphoethanolamine namespace: chebi_ontology def: "A 2-acyl-sn-glycero-3-phosphoethanolamine in which the acyl group is specified as linoleoyl." [] subset: 3_STAR synonym: "(2R)-1-{[(2-aminoethoxy)(hydroxy)phosphoryl]oxy}-3-hydroxypropan-2-yl (9Z,12Z)-octadeca-9,12-dienoate" EXACT IUPAC_NAME [IUPAC] synonym: "(9Z,12Z-octadecadienoyl)lysophosphatidylethanolamine" RELATED [HMDB] synonym: "2-(9Z,12Z)-octadecadienoyl-sn-glycero-3-phosphoethanolamine" RELATED [ChEBI] synonym: "2-linoleoyllysophosphatidylethanolamine" RELATED [ChEBI] synonym: "LPE(0:0/18:2)" RELATED [HMDB] synonym: "LPE(0:0/18:2omega6)" RELATED [HMDB] synonym: "LPE(18:2)" RELATED [HMDB] synonym: "Lyso-PE(0:0/18:2)" RELATED [HMDB] synonym: "Lyso-PE(0:0/18:2omega6)" RELATED [HMDB] synonym: "Lyso-PE(18:2)" RELATED [HMDB] synonym: "LysoPE(0:0/18:2(9Z,12Z))" RELATED [ChEBI] synonym: "Lysophosphatidylethanolamine(0:0/18:2)" RELATED [HMDB] synonym: "Lysophosphatidylethanolamine(0:0/18:2omega6)" RELATED [HMDB] synonym: "Lysophosphatidylethanolamine(18:2)" RELATED [HMDB] xref: HMDB:HMDB0011477 xref: Reaxys:6159809 {source="Reaxys"} is_a: CHEBI:91296 ! lysophosphatidylethanolamine 18:2 property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C23H44NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C23H44NO7P/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-23(26)31-22(20-25)21-30-32(27,28)29-19-18-24/h6-7,9-10,22,25H,2-5,8,11-21,24H2,1H3,(H,27,28)/b7-6-,10-9-/t22-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SVRBKLJIDJHADS-USWSLJGRSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "477.57170" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "477.28554" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCC\\C=C/C\\C=C/CCCCCCCC(=O)O[C@H](CO)COP(O)(=O)OCCN" xsd:string [Term] id: CHEBI:76273 name: dodecanedioate(2-) namespace: chebi_ontology def: "A dicarboxylic acid dianion obtained by deprotonation of both carboxy groups of dodecanedioic acid; major species at pH 7.3." [] subset: 3_STAR synonym: "C12-DCA(2-)" RELATED [SUBMITTER] synonym: "dodecanedioate" EXACT IUPAC_NAME [IUPAC] synonym: "dodecanedioate" RELATED [UniProt] xref: MetaCyc:CPD-10670 xref: PMID:21886157 {source="Europe PMC"} xref: Reaxys:4313813 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12H20O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C12H22O4/c13-11(14)9-7-5-3-1-2-4-6-8-10-12(15)16/h1-10H2,(H,13,14)(H,15,16)/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "TVIDDXQYHWJXFK-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "228.28480" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "228.13726" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-]C(=O)CCCCCCCCCCC([O-])=O" xsd:string [Term] id: CHEBI:76276 name: hexadecanedioate(2-) namespace: chebi_ontology def: "A dicarboxylic acid dianion obtained by deprotonation of both carboxy groups of hexadecanedioic acid; major species at pH 7.3." [] subset: 3_STAR synonym: "alpha,omega-hexadecanedioate" RELATED [ChEBI] synonym: "C16DCA(2-)" RELATED [SUBMITTER] synonym: "hexadecanedioate" RELATED [UniProt] xref: MetaCyc:CPD-10511 xref: PMID:21886157 {source="Europe PMC"} xref: Reaxys:3908572 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C16H28O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C16H30O4/c17-15(18)13-11-9-7-5-3-1-2-4-6-8-10-12-14-16(19)20/h1-14H2,(H,17,18)(H,19,20)/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QQHJDPROMQRDLA-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "284.39110" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "284.19986" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-]C(=O)CCCCCCCCCCCCCCC([O-])=O" xsd:string [Term] id: CHEBI:76281 name: tetradecanedioate(2-) namespace: chebi_ontology def: "A dicarboxylic acid dianion obtained by deprotonation of both carboxy groups of tetradecanedioic acid; major species at pH 7.3." [] subset: 3_STAR synonym: "C14-DCA(2-)" RELATED [SUBMITTER] synonym: "tetradecanedioate" EXACT IUPAC_NAME [IUPAC] synonym: "tetradecanedioate" RELATED [UniProt] xref: Reaxys:3670966 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C14H24O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C14H26O4/c15-13(16)11-9-7-5-3-1-2-4-6-8-10-12-14(17)18/h1-12H2,(H,15,16)(H,17,18)/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HQHCYKULIHKCEB-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "256.339" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "256.16856" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-]C(CCCCCCCCCCCCC([O-])=O)=O" xsd:string [Term] id: CHEBI:76282 name: suberate(2-) namespace: chebi_ontology def: "A dicarboxylic acid dianion obtained by deprotonation of both carboxy groups of suberic acid; major species at pH 7.3." [] subset: 3_STAR synonym: "C8-DCA(2-)" RELATED [SUBMITTER] synonym: "octanedioate" EXACT IUPAC_NAME [IUPAC] synonym: "octanedioate" RELATED [UniProt] synonym: "octanedioate(2-)" RELATED [ChEBI] synonym: "suberate" RELATED [ChEBI] xref: MetaCyc:CPD0-1264 xref: Reaxys:3905392 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H12O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H14O4/c9-7(10)5-3-1-2-4-6-8(11)12/h1-6H2,(H,9,10)(H,11,12)/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "TYFQFVWCELRYAO-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "172.17850" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "172.07466" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-]C(=O)CCCCCCC([O-])=O" xsd:string [Term] id: CHEBI:76283 name: sebacate(2-) namespace: chebi_ontology def: "A dicarboxylic acid dianion obtained by deprotonation of both carboxy groups of suberic acid; major species at pH 7.3." [] subset: 3_STAR synonym: "C10-DCA(2-)" RELATED [SUBMITTER] synonym: "decanedioate" EXACT IUPAC_NAME [IUPAC] synonym: "decanedioate" RELATED [UniProt] synonym: "decanedioate(2-)" RELATED [ChEBI] synonym: "sebacate" RELATED [ChEBI] xref: MetaCyc:CPD-3623 xref: PMID:21886157 {source="Europe PMC"} xref: Reaxys:3906061 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H16O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H18O4/c11-9(12)7-5-3-1-2-4-6-8-10(13)14/h1-8H2,(H,11,12)(H,13,14)/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CXMXRPHRNRROMY-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "200.23160" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "200.10596" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-]C(=O)CCCCCCCCC([O-])=O" xsd:string [Term] id: CHEBI:76616 name: 3-hydroxylaurate namespace: chebi_ontology def: "A 3-hydroxy fatty acid anion that is the conjugate base of 3-hydroxylauric acid, obtained by deprotonation of the carboxy group; major species at pH 7.3." [] subset: 3_STAR synonym: "3-hydroxydodecanoate" EXACT IUPAC_NAME [IUPAC] synonym: "3-hydroxydodecanoate" RELATED [UniProt] synonym: "3-OH-C12:0(1-)" RELATED [SUBMITTER] synonym: "beta-hydroxydodecanoate" RELATED [SUBMITTER] synonym: "beta-hydroxylaurate" RELATED [ChEBI] is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12H23O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C12H24O3/c1-2-3-4-5-6-7-8-9-11(13)10-12(14)15/h11,13H,2-10H2,1H3,(H,14,15)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "MUCMKTPAZLSKTL-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "215.30920" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "215.16527" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCCCC(O)CC([O-])=O" xsd:string [Term] id: CHEBI:7671 name: O-acetylhomoserine namespace: chebi_ontology def: "An alpha-amino acid that is homoserine in which the alcoholic hydroxy group has been converted to the corresponding acetate." [] subset: 3_STAR synonym: "4-(acetyloxy)-2-aminobutanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "O-Acetylhomoserine" EXACT [KEGG_COMPOUND] xref: Beilstein:4130890 {source="Beilstein"} xref: KEGG:C05700 xref: Reaxys:1724343 {source="Reaxys"} is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H11NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H11NO4/c1-4(8)11-3-2-5(7)6(9)10/h5H,2-3,7H2,1H3,(H,9,10)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FCXZBWSIAGGPCB-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "161.15588" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "161.06881" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(=O)OCCC(N)C(O)=O" xsd:string [Term] id: CHEBI:7676 name: O-butanoylcarnitine namespace: chebi_ontology def: "A C4-acylcarnitine that is the O-butanoyl derivative of carnitine." [] subset: 3_STAR synonym: "3-(butanoyloxy)-4-(trimethylazaniumyl)butanoate" EXACT IUPAC_NAME [IUPAC] synonym: "Butyrylcarnitine" RELATED [ChEBI] synonym: "O-butyrylcarnitine" RELATED [ChEBI] xref: KEGG:C02862 xref: PMID:22770225 {source="Europe PMC"} xref: Reaxys:1879339 {source="Reaxys"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C11H21NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C11H21NO4/c1-5-6-11(15)16-9(7-10(13)14)8-12(2,3)4/h9H,5-8H2,1-4H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QWYFHHGCZUCMBN-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "231.28870" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "231.14706" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCC(=O)OC(CC([O-])=O)C[N+](C)(C)C" xsd:string [Term] id: CHEBI:7719 name: ochratoxin A namespace: chebi_ontology def: "A phenylalanine derivative resulting from the formal condensation of the amino group of L-phenylalanine with the carboxy group of (3R)-5-chloro-8-hydroxy-3-methyl-1-oxo-3,4-dihydro-1H-2-benzopyran-7-carboxylic acid (ochratoxin alpha). It is among the most widely occurring food-contaminating mycotoxins, produced by Aspergillus ochraceus, Aspergillus carbonarius and Penicillium verrucosum." [] subset: 3_STAR synonym: "(-)-N-((5-chloro-8-hydroxy-3-methyl-1-oxo-7-isochromanyl)carbonyl)-3-phenylalanine" RELATED [ChemIDplus] synonym: "(2S)-2-{[(3R)-5-chloro-8-hydroxy-3-methyl-1-oxo-3,4-dihydro-1H-2-benzopyran-7-carbonyl]amino}-3-phenylpropanoic acid" RELATED [IUPAC] synonym: "(R)-N-((5-chloro-3,4-dihydro-8-hydroxy-3-methyl-1-oxo-1H-2-benzopyran-7-yl)carbonyl)phenylalanine" RELATED [ChemIDplus] synonym: "N-(((3R)-5-chloro-8-hydroxy-3-methyl-1-oxo-7-isochromanyl)carbonyl)-3-phenyl-L-alanine" RELATED [ChemIDplus] synonym: "N-[(3R)-5-chloro-8-hydroxy-3-methyl-1-oxo-3,4-dihydro-1H-2-benzopyran-7-carbonyl]-L-phenylalanine" RELATED [IUPAC] synonym: "N-{[(3R)-5-chloro-8-hydroxy-3-methyl-1-oxo-3,4-dihydro-1H-2-benzopyran-7-yl]carbonyl}-L-phenylalanine" EXACT IUPAC_NAME [IUPAC] synonym: "N-{[(3R)-5-chloro-8-hydroxy-3-methyl-1-oxo-3,4-dihydro-1H-isochromen-7-yl]carbonyl}-L-phenylalanine" RELATED [IUPAC] synonym: "Ochratoxin A" EXACT [KEGG_COMPOUND] synonym: "OTA" RELATED [ChEBI] xref: Beilstein:1301486 {source="Beilstein"} xref: CAS:303-47-9 {source="KEGG COMPOUND"} xref: CAS:303-47-9 {source="ChemIDplus"} xref: HMDB:HMDB0029399 xref: KEGG:C09955 xref: KNApSAcK:C00003008 xref: LINCS:LSM-5521 xref: MeSH:C025589 xref: NCIt:C44427 xref: PMID:11513689 {source="Europe PMC"} xref: PMID:11899122 {source="Europe PMC"} xref: PMID:15056805 {source="Europe PMC"} xref: PMID:16022500 {source="Europe PMC"} xref: PMID:16097797 {source="Europe PMC"} xref: PMID:16293235 {source="Europe PMC"} xref: PMID:16332622 {source="Europe PMC"} xref: PMID:16332628 {source="Europe PMC"} xref: PMID:16781114 {source="Europe PMC"} xref: PMID:17195275 {source="Europe PMC"} xref: PMID:17218050 {source="Europe PMC"} xref: PMID:17580629 {source="Europe PMC"} xref: PMID:18638518 {source="Europe PMC"} xref: PMID:18680942 {source="Europe PMC"} xref: PMID:19919898 {source="Europe PMC"} xref: PMID:20201966 {source="Europe PMC"} xref: PMID:23282670 {source="Europe PMC"} xref: PMID:23296271 {source="Europe PMC"} xref: PMID:23358140 {source="Europe PMC"} xref: PMID:23369011 {source="Europe PMC"} xref: PMID:29950703 {source="Europe PMC"} xref: PMID:33078253 {source="Europe PMC"} xref: PMID:33138019 {source="Europe PMC"} xref: PMID:33171643 {source="Europe PMC"} xref: PMID:33338836 {source="Europe PMC"} xref: PMID:8941986 {source="Europe PMC"} xref: PMID:8956233 {source="Europe PMC"} xref: PMID:9894829 {source="Europe PMC"} xref: Reaxys:1301486 {source="Reaxys"} xref: Wikipedia:Ochratoxin_A is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H18ClNO6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H18ClNO6/c1-10-7-12-14(21)9-13(17(23)16(12)20(27)28-10)18(24)22-15(19(25)26)8-11-5-3-2-4-6-11/h2-6,9-10,15,23H,7-8H2,1H3,(H,22,24)(H,25,26)/t10-,15+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RWQKHEORZBHNRI-BMIGLBTASA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "403.820" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "403.08227" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[C@@H]1CC2=C(Cl)C=C(C(=O)N[C@@H](CC3=CC=CC=C3)C(O)=O)C(O)=C2C(=O)O1" xsd:string [Term] id: CHEBI:77225 name: all-cis-docosa-7,10,13,16-tetraenoate namespace: chebi_ontology def: "A polyunsaturated fatty acid anion that is the conjugate base of all-cis-docosa-7,10,13,16-tetraenoic acid, obtained by deprotonation of the carboxy group; major species at pH 7.3." [] subset: 3_STAR synonym: "(7Z,10Z,13Z,16Z)-docosa-7,10,13,16-tetraenoate" EXACT IUPAC_NAME [IUPAC] synonym: "(7Z,10Z,13Z,16Z)-docosatetraenoate" RELATED [UniProt] synonym: "adrenate" RELATED [ChEBI] synonym: "C22:4(omega-6)(1-)" RELATED [SUBMITTER] is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H35O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C22H36O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-18-19-20-21-22(23)24/h6-7,9-10,12-13,15-16H,2-5,8,11,14,17-21H2,1H3,(H,23,24)/p-1/b7-6-,10-9-,13-12-,16-15-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "TWSWSIQAPQLDBP-DOFZRALJSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "331.513" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "331.26425" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(=C\\C/C=C\\C/C=C\\CCCCCC([O-])=O)\\C/C=C\\CCCCC" xsd:string [Term] id: CHEBI:7735 name: olanzapine namespace: chebi_ontology def: "A benzodiazepine that is 10H-thieno[2,3-b][1,5]benzodiazepine substituted by a methyl group at position 2 and a 4-methylpiperazin-1-yl group at position 4." [] subset: 3_STAR synonym: "2-methyl-4-(4-methylpiperazin-1-yl)-10H-thieno[2,3-b][1,5]benzodiazepine" EXACT IUPAC_NAME [IUPAC] synonym: "olanzapina" RELATED INN [ChEBI] synonym: "Olanzapine" EXACT [KEGG_COMPOUND] synonym: "olanzapine" RELATED INN [ChEBI] synonym: "olanzapinum" RELATED INN [ChEBI] synonym: "Zyprexa" RELATED BRAND_NAME [DrugBank] xref: CAS:132539-06-1 {source="ChemIDplus"} xref: Drug_Central:1982 {source="DrugCentral"} xref: DrugBank:DB00334 xref: KEGG:C07322 xref: KEGG:D00454 xref: MeSH:C076029 xref: NCIt:C47639 xref: Patent:EP454436 xref: Patent:US5229382 xref: PMID:18022155 {source="Europe PMC"} xref: PMID:18504690 {source="Europe PMC"} xref: PMID:18792627 {source="Europe PMC"} xref: Reaxys:7655141 {source="Reaxys"} xref: SNOMEDCT:108441004 xref: SNOMEDCT:386849001 xref: Wikipedia:Olanzapine is_a: CHEBI:22720 ! benzodiazepine relationship: has_role CHEBI:35476 ! antipsychotic agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C17H20N4S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C17H20N4S/c1-12-11-13-16(21-9-7-20(2)8-10-21)18-14-5-3-4-6-15(14)19-17(13)22-12/h3-6,11,19H,7-10H2,1-2H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KVWDHTXUZHCGIO-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "312.434" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "312.14087" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "N1=C(C2=C(NC3=CC=CC=C13)SC(=C2)C)N4CCN(CC4)C" xsd:string [Term] id: CHEBI:77447 name: triacylglycerol 46:2 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 46 carbons and 2 double bonds." [] subset: 3_STAR synonym: "TAG 46:2" RELATED [UniProt] synonym: "TG(46:2)" RELATED [ChEBI] xref: PMID:24462247 {source="SUBMITTER"} is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C49H90O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "775.237" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "774.67374" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]C(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:7772 name: omeprazole namespace: chebi_ontology def: "A racemate comprising equimolar amounts of (R)- and (S)-omeprazole." [] subset: 3_STAR synonym: "5-methoxy-2-{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl}-1H-benzimidazole" RELATED [ChEBI] synonym: "Antra" RELATED BRAND_NAME [DrugBank] synonym: "Audazol" RELATED BRAND_NAME [DrugBank] synonym: "Belmazol" RELATED BRAND_NAME [DrugBank] synonym: "Ceprandal" RELATED BRAND_NAME [DrugBank] synonym: "Danlox" RELATED BRAND_NAME [DrugBank] synonym: "Desec" RELATED BRAND_NAME [DrugBank] synonym: "Elgam" RELATED BRAND_NAME [DrugBank] synonym: "Emeproton" RELATED BRAND_NAME [DrugBank] synonym: "Gasec" RELATED BRAND_NAME [DrugBank] synonym: "Gastrimut" RELATED BRAND_NAME [DrugBank] synonym: "Indurgan" RELATED BRAND_NAME [DrugBank] synonym: "Inhibitron" RELATED BRAND_NAME [DrugBank] synonym: "Losec" RELATED BRAND_NAME [DrugBank] synonym: "Olit" RELATED BRAND_NAME [ChEBI] synonym: "Omapren" RELATED BRAND_NAME [DrugBank] synonym: "Omebeta" RELATED BRAND_NAME [DrugBank] synonym: "OMEP" RELATED [DrugBank] synonym: "omeprazol" RELATED INN [ChemIDplus] synonym: "omeprazole" RELATED INN [ChemIDplus] synonym: "omeprazolum" RELATED INN [ChemIDplus] synonym: "OMP" RELATED [DrugBank] synonym: "OMZ" RELATED [DrugBank] synonym: "Prazidec" RELATED BRAND_NAME [DrugBank] synonym: "Procelac" RELATED BRAND_NAME [DrugBank] synonym: "rac-5-methoxy-2-{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl}-1H-benzimidazole" EXACT IUPAC_NAME [IUPAC] synonym: "Sanamidol" RELATED BRAND_NAME [DrugBank] synonym: "Ulceral" RELATED BRAND_NAME [DrugBank] synonym: "Ulcesep" RELATED BRAND_NAME [DrugBank] synonym: "Ultop" RELATED BRAND_NAME [DrugBank] xref: Beilstein:3628192 {source="Beilstein"} xref: CAS:73590-58-6 {source="ChemIDplus"} xref: DrugBank:DB00338 xref: KEGG:C07324 xref: KEGG:D00455 xref: Patent:EP5129 xref: Patent:US4255431 xref: Patent:US5693818 xref: PMID:11060758 {source="Europe PMC"} xref: PMID:11208500 {source="Europe PMC"} xref: PMID:11210716 {source="Europe PMC"} xref: PMID:11304936 {source="Europe PMC"} xref: PMID:11321383 {source="Europe PMC"} xref: PMID:11395292 {source="Europe PMC"} xref: PMID:11404722 {source="Europe PMC"} xref: PMID:11459434 {source="Europe PMC"} xref: PMID:11568514 {source="Europe PMC"} xref: PMID:11700946 {source="Europe PMC"} xref: PMID:11774962 {source="Europe PMC"} xref: PMID:11807212 {source="Europe PMC"} xref: PMID:11851112 {source="Europe PMC"} xref: PMID:11903739 {source="Europe PMC"} xref: PMID:11962536 {source="Europe PMC"} xref: PMID:12072663 {source="Europe PMC"} xref: PMID:12135028 {source="Europe PMC"} xref: PMID:12235248 {source="Europe PMC"} xref: PMID:12495367 {source="Europe PMC"} xref: PMID:12683615 {source="Europe PMC"} xref: PMID:13680386 {source="Europe PMC"} xref: PMID:14616415 {source="Europe PMC"} xref: PMID:14708212 {source="Europe PMC"} xref: PMID:14725575 {source="Europe PMC"} xref: PMID:15004262 {source="Europe PMC"} xref: PMID:15125696 {source="Europe PMC"} xref: PMID:15586641 {source="Europe PMC"} xref: PMID:15598025 {source="Europe PMC"} xref: PMID:15684503 {source="Europe PMC"} xref: PMID:15707461 {source="Europe PMC"} xref: PMID:15774534 {source="Europe PMC"} xref: PMID:16080278 {source="Europe PMC"} xref: PMID:16129922 {source="Europe PMC"} xref: PMID:16259581 {source="Europe PMC"} xref: PMID:16276979 {source="Europe PMC"} xref: PMID:16380990 {source="Europe PMC"} xref: PMID:16386527 {source="Europe PMC"} xref: PMID:16397810 {source="Europe PMC"} xref: PMID:16440530 {source="Europe PMC"} xref: PMID:16998872 {source="Europe PMC"} xref: PMID:17049542 {source="Europe PMC"} xref: PMID:17384694 {source="Europe PMC"} xref: PMID:17532167 {source="Europe PMC"} xref: PMID:18294333 {source="Europe PMC"} xref: PMID:18366242 {source="Europe PMC"} xref: PMID:18416943 {source="Europe PMC"} xref: PMID:18448060 {source="Europe PMC"} xref: PMID:18498918 {source="Europe PMC"} xref: PMID:18520598 {source="Europe PMC"} xref: PMID:18571645 {source="Europe PMC"} xref: PMID:18616070 {source="Europe PMC"} xref: PMID:18793272 {source="Europe PMC"} xref: PMID:18818790 {source="Europe PMC"} xref: PMID:19150046 {source="Europe PMC"} xref: PMID:19166730 {source="Europe PMC"} xref: PMID:19176055 {source="Europe PMC"} xref: PMID:19236757 {source="Europe PMC"} xref: PMID:19327607 {source="Europe PMC"} xref: PMID:19383986 {source="Europe PMC"} xref: PMID:19434360 {source="Europe PMC"} xref: PMID:19470853 {source="Europe PMC"} xref: PMID:19517893 {source="Europe PMC"} xref: PMID:19746659 {source="Europe PMC"} xref: PMID:19796313 {source="Europe PMC"} xref: PMID:19801857 {source="Europe PMC"} xref: PMID:19937171 {source="Europe PMC"} xref: Reaxys:3628192 {source="Reaxys"} xref: VSDB:1827 xref: Wikipedia:Omeprazole is_a: CHEBI:24431 ! chemical entity [Term] id: CHEBI:77761 name: piperidin-2-one namespace: chebi_ontology def: "A delta-lactam that is piperidine which is substituted by an oxo group at position 2." [] subset: 3_STAR synonym: "2-oxo-piperidine" RELATED [ChEBI] synonym: "2-oxopiperidine" RELATED [ChEBI] synonym: "5-pentanolactam" RELATED [ChemIDplus] synonym: "alpha-piperidone" RELATED [NIST_Chemistry_WebBook] synonym: "delta-valerolactam" RELATED [NIST_Chemistry_WebBook] synonym: "piperidin-2-one" EXACT IUPAC_NAME [IUPAC] synonym: "piperidinone" RELATED [ChemIDplus] synonym: "Piperidon" RELATED [ChemIDplus] synonym: "piperidone" RELATED [ChemIDplus] synonym: "piperidone-2" RELATED [ChemIDplus] xref: CAS:27154-43-4 {source="ChemIDplus"} xref: CAS:27154-43-4 {source="NIST Chemistry WebBook"} xref: CAS:675-20-7 {source="ChemIDplus"} xref: CAS:675-20-7 {source="NIST Chemistry WebBook"} xref: Reaxys:106434 {source="Reaxys"} xref: Wikipedia:2-Piperidinone is_a: CHEBI:24532 ! organic heterocyclic compound is_a: EFO:0004417 ! amide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H9NO" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H9NO/c7-5-3-1-2-4-6-5/h1-4H2,(H,6,7)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XUWHAWMETYGRKB-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "99.13110" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "99.06841" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O=C1CCCCN1" xsd:string [Term] id: CHEBI:7798 name: oseltamivir namespace: chebi_ontology alt_id: CHEBI:42582 def: "A cyclohexenecarboxylate ester that is the ethyl ester of oseltamivir acid. An antiviral prodrug (it is hydrolysed to the active free carboxylic acid in the liver), it is used to slow the spread of influenza." [] subset: 3_STAR synonym: "(-)-oseltamivir" RELATED [ChEBI] synonym: "1-Cyclohexene-1-carboxylic acid, 4-(acetylamino)-5-amino-3-(1-ethylpropoxy)-, ethyl ester, (3R-(3alpha,4beta,5alpha))-" RELATED [ChemIDplus] synonym: "Agucort" RELATED BRAND_NAME [KEGG_DRUG] synonym: "Ethyl (3R,4R,5S)-4-acetamido-5-amino-3-(1-ethylpropoxy)-1-cyclohexene-1-carboxylate" RELATED [ChemIDplus] synonym: "ethyl (3R,4R,5S)-4-acetamido-5-amino-3-(pentan-3-yloxy)cyclohex-1-ene-1-carboxylate" EXACT IUPAC_NAME [IUPAC] synonym: "GS-4104" RELATED [ChemIDplus] synonym: "HSDB 7433" RELATED [ChemIDplus] synonym: "Oseltamivir" EXACT [KEGG_COMPOUND] synonym: "oseltamivir" RELATED INN [ChEBI] synonym: "oseltamivir" RELATED INN [ChemIDplus] synonym: "oseltamivirum" RELATED INN [ChEBI] synonym: "Tamiflu" RELATED BRAND_NAME [ChEBI] xref: Beilstein:8003908 {source="Beilstein"} xref: CAS:196618-13-0 {source="ChemIDplus"} xref: CAS:196618-13-0 {source="KEGG COMPOUND"} xref: Drug_Central:2001 {source="DrugCentral"} xref: DrugBank:DB00198 xref: HMDB:HMDB0014343 xref: KEGG:C08092 xref: KEGG:D08306 xref: MeSH:D053139 xref: NCIt:C62061 xref: Patent:US5763483 xref: PMID:11075941 {source="Europe PMC"} xref: PMID:11270942 {source="Europe PMC"} xref: PMID:11825310 {source="Europe PMC"} xref: PMID:17912363 {source="Europe PMC"} xref: PMID:18559644 {source="Europe PMC"} xref: PMID:18936828 {source="Europe PMC"} xref: PMID:19355841 {source="Europe PMC"} xref: PMID:19439487 {source="Europe PMC"} xref: PMID:19557131 {source="Europe PMC"} xref: PMID:19884755 {source="Europe PMC"} xref: Reaxys:8003908 {source="Reaxys"} xref: SNOMEDCT:386142008 xref: SNOMEDCT:412261005 xref: Wikipedia:Oseltamivir is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:22587 ! antiviral agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C16H28N2O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C16H28N2O4/c1-5-12(6-2)22-14-9-11(16(20)21-7-3)8-13(17)15(14)18-10(4)19/h9,12-15H,5-8,17H2,1-4H3,(H,18,19)/t13-,14+,15+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VSZGPKBBMSAYNT-RRFJBIMHSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "312.40450" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "312.20491" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCOC(=O)C1=C[C@@H](OC(CC)CC)[C@H](NC(C)=O)[C@@H](N)C1" xsd:string [Term] id: CHEBI:78053 name: docosapentaenoate namespace: chebi_ontology def: "A polyunsaturated fatty acid anion that is the conjugate base of docosapentaenoic acid, obtained by deprotonation of the carboxy group; major species at pH 7.3." [] subset: 3_STAR is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H33O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "329.4962" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "329.24806" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-]C([*])=O" xsd:string [Term] id: CHEBI:78060 name: docosahexaenoate namespace: chebi_ontology def: "A polyunsaturated fatty acid anion that is the conjugate base of docosahexaenoic acid, obtained by deprotonation of the carboxy group; major species at pH 7.3." [] subset: 3_STAR is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H31O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "327.4803" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "327.23241" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-]C([*])=O" xsd:string [Term] id: CHEBI:78075 name: icosenoate namespace: chebi_ontology def: "A long-chain monounsaturated fatty acid anion that is the conjugate base of icosenoic acid, formed by deprotonation of the carboxylic acid group. Major species at pH 7.3." [] subset: 3_STAR synonym: "Eicosenoate" RELATED [UniProt] is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H37O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "309.5066" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "309.27936" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-]C([*])=O" xsd:string [Term] id: CHEBI:78208 name: azelaate(2-) namespace: chebi_ontology def: "A dicarboxylic acid dianion obtained by deprotonation of both carboxy groups of of azelaic acid; major species at pH 7.3." [] subset: 3_STAR synonym: "8-carboxylatooctanoate" RELATED [SUBMITTER] synonym: "9-oxido-9-oxononanoate" RELATED [SUBMITTER] synonym: "azelaate" EXACT IUPAC_NAME [IUPAC] synonym: "nonanedioate" RELATED [UniProt] synonym: "nonanedioate(2-)" RELATED [SUBMITTER] xref: MetaCyc:CPD0-1265 xref: PMID:8360169 {source="SUBMITTER"} xref: Reaxys:3905828 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H14O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H16O4/c10-8(11)6-4-2-1-3-5-7-9(12)13/h1-7H2,(H,10,11)(H,12,13)/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BDJRBEYXGGNYIS-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "186.20620" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "186.09031" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-]C(=O)CCCCCCCC([O-])=O" xsd:string [Term] id: CHEBI:7823 name: oxazepam namespace: chebi_ontology def: "A 1,4-benzodiazepinone that is 1,3-dihydro-2H-1,4-benzodiazepin-2-one substituted by a chloro group at position 7, a hydroxy group at position 3 and phenyl group at position 5." [] subset: 3_STAR synonym: "(+-)-Oxazepam" RELATED [ChemIDplus] synonym: "(RS)-Oxazepam" RELATED [ChemIDplus] synonym: "7-chloro-3-hydroxy-5-phenyl-1,3-dihydro-2H-1,4-benzodiazepin-2-one" EXACT IUPAC_NAME [IUPAC] synonym: "Oxazepam" EXACT [KEGG_COMPOUND] synonym: "Serax" RELATED [ChemIDplus] synonym: "Tazepam" RELATED [ChemIDplus] xref: CAS:604-75-1 {source="NIST Chemistry WebBook"} xref: CAS:604-75-1 {source="ChemIDplus"} xref: CAS:604-75-1 {source="KEGG COMPOUND"} xref: Drug_Central:2015 {source="DrugCentral"} xref: DrugBank:DB00842 xref: HMDB:HMDB0014980 xref: KEGG:C07359 xref: KEGG:D00464 xref: MeSH:D010076 xref: NCIt:C47642 xref: Patent:CN1543961 xref: PMID:17456431 {source="Europe PMC"} xref: PMID:9811432 {source="Europe PMC"} xref: Reaxys:754065 {source="Reaxys"} xref: SNOMEDCT:387455006 xref: SNOMEDCT:79225003 xref: Wikipedia:Oxazepam is_a: CHEBI:22720 ! benzodiazepine relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C15H11ClN2O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C15H11ClN2O2/c16-10-6-7-12-11(8-10)13(9-4-2-1-3-5-9)18-15(20)14(19)17-12/h1-8,15,20H,(H,17,19)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ADIMAYPTOBDMTL-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "286.71300" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "286.05091" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC1N=C(c2ccccc2)c2cc(Cl)ccc2NC1=O" xsd:string [Term] id: CHEBI:78604 name: ursodeoxycholate namespace: chebi_ontology def: "A bile acid anion that is the conjugate base of ursodeoxycholic acid, obtained by deprotonation of the carboxy group; major species at pH 7.3." [] subset: 3_STAR synonym: "(3alpha,5beta,7beta)-3,7-dihydroxycholan-24-oate" EXACT IUPAC_NAME [IUPAC] synonym: "ursodeoxycholate" EXACT [UniProt] xref: Reaxys:5305486 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C24H39O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C24H40O4/c1-14(4-7-21(27)28)17-5-6-18-22-19(9-11-24(17,18)3)23(2)10-8-16(25)12-15(23)13-20(22)26/h14-20,22,25-26H,4-13H2,1-3H3,(H,27,28)/p-1/t14-,15+,16-,17-,18+,19+,20+,22+,23+,24-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RUDATBOHQWOJDD-UZVSRGJWSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "391.56460" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "391.28538" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[C@H](CCC([O-])=O)[C@H]1CC[C@H]2[C@@H]3[C@@H](O)C[C@@H]4C[C@H](O)CC[C@]4(C)[C@H]3CC[C@]12C" xsd:string [Term] id: CHEBI:7872 name: oxytocin namespace: chebi_ontology def: "A cyclic nonapeptide hormone with amino acid sequence CYIQNCPLG that also acts as a neurotransmitter in the brain; the principal uterine-contracting and milk-ejecting hormone of the posterior pituitary. Together with the neuropeptide vasopressin, it is believed to influence social cognition and behaviour." [] subset: 3_STAR synonym: "(1-Hemicystine)oxytocin" RELATED [ChemIDplus] synonym: "1-({(4R,7S,10S,13S,16S,19R)-19-amino-7-(2-amino-2-oxoethyl)-10-(3-amino-3-oxopropyl)-16-(4-hydroxybenzyl)-13-[(1S)-1-methylpropyl]-6,9,12,15,18-pentaoxo-1,2-dithia-5,8,11,14,17-pentaazacycloicosan-4-yl}carbonyl)-L-prolyl-L-leucylglycinamide" EXACT IUPAC_NAME [IUPAC] synonym: "3-Isoleucine-8-leucine vasopressin" RELATED [ChemIDplus] synonym: "Endopituitrina" RELATED [ChemIDplus] synonym: "L-Cysteinyl-L-tyrosyl-L-isoleucyl-L-glutaminyl-L-asparaginyl-L-cysteinyl-L-prolyl-L-leucylglycinamide cyclic(1-6)-disulfide" RELATED [ChemIDplus] synonym: "Ocytocin" RELATED [KEGG_COMPOUND] synonym: "Orasthin" RELATED BRAND_NAME [ChemIDplus] synonym: "OT" RELATED [KEGG_COMPOUND] synonym: "oxitocina" RELATED INN [ChemIDplus] synonym: "OXT" RELATED [KEGG_COMPOUND] synonym: "Oxytocin" EXACT [KEGG_COMPOUND] synonym: "oxytocin" RELATED INN [ChemIDplus] synonym: "oxytocine" RELATED INN [ChemIDplus] synonym: "oxytocinum" RELATED INN [ChemIDplus] synonym: "Pitocin" RELATED BRAND_NAME [DrugBank] synonym: "Piton S" RELATED BRAND_NAME [ChemIDplus] synonym: "Syntocinon" RELATED BRAND_NAME [DrugBank] synonym: "Syntocinon" RELATED BRAND_NAME [ChemIDplus] xref: Beilstein:3586108 {source="Beilstein"} xref: CAS:50-56-6 {source="ChemIDplus"} xref: Drug_Central:2042 {source="DrugCentral"} xref: DrugBank:DB00107 xref: HMDB:HMDB0002865 xref: KEGG:C00746 xref: KEGG:D00089 xref: Patent:US2938891 xref: Patent:US3076797 xref: PMID:10027619 {source="Europe PMC"} xref: PMID:10834934 {source="Europe PMC"} xref: PMID:10949083 {source="Europe PMC"} xref: PMID:10949750 {source="Europe PMC"} xref: PMID:10983343 {source="Europe PMC"} xref: PMID:11134819 {source="Europe PMC"} xref: PMID:13305558 {source="Europe PMC"} xref: PMID:15815422 {source="Europe PMC"} xref: PMID:18593851 {source="Europe PMC"} xref: PMID:18988842 {source="Europe PMC"} xref: PMID:19104313 {source="Europe PMC"} xref: PMID:19369205 {source="Europe PMC"} xref: PMID:19482229 {source="Europe PMC"} xref: PMID:24706799 {source="Europe PMC"} xref: PMID:25209411 {source="Europe PMC"} xref: PMID:32509991 {source="Europe PMC"} xref: PMID:32683141 {source="Europe PMC"} xref: PMID:32979349 {source="Europe PMC"} xref: PMID:33192340 {source="Europe PMC"} xref: Wikipedia:Oxytocin is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C43H66N12O12S2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C43H66N12O12S2/c1-5-22(4)35-42(66)49-26(12-13-32(45)57)38(62)51-29(17-33(46)58)39(63)53-30(20-69-68-19-25(44)36(60)50-28(40(64)54-35)16-23-8-10-24(56)11-9-23)43(67)55-14-6-7-31(55)41(65)52-27(15-21(2)3)37(61)48-18-34(47)59/h8-11,21-22,25-31,35,56H,5-7,12-20,44H2,1-4H3,(H2,45,57)(H2,46,58)(H2,47,59)(H,48,61)(H,49,66)(H,50,60)(H,51,62)(H,52,65)(H,53,63)(H,54,64)/t22-,25-,26-,27-,28-,29-,30-,31-,35-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XNOPRXBHLZRZKH-DSZYJQQASA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "1007.18982" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "1006.43646" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]1(NC(=O)[C@H](Cc2ccc(O)cc2)NC(=O)[C@@H](N)CSSC[C@H](NC(=O)[C@H](CC(N)=O)NC(=O)[C@H](CCC(N)=O)NC1=O)C(=O)N1CCC[C@H]1C(=O)N[C@@H](CC(C)C)C(=O)NCC(N)=O)[C@@H](C)CC" xsd:string [Term] id: CHEBI:78737 name: fructose 1-phosphate namespace: chebi_ontology def: "A ketohexose monophosphate consisting of fructose having a phosphate group located at the 1-position" [] subset: 3_STAR xref: Wikipedia:Fructose_1-phosphate is_a: CHEBI:26020 ! phosphate [Term] id: CHEBI:78796 name: nonadecanoate namespace: chebi_ontology def: "A nineteen carbon straight-chain fatty acid anion. Major species at pH 7.3." [] subset: 3_STAR synonym: "nonadecanoate" EXACT [UniProt] is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H37O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H38O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-18-19(20)21/h2-18H2,1H3,(H,20,21)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ISYWECDDZWTKFF-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "297.49640" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "297.27990" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCCCCCCCCCCCCC([O-])=O" xsd:string [Term] id: CHEBI:78894 name: docosadienoate namespace: chebi_ontology def: "A fatty acid anion with 22 carbons and 2 double bonds. Major species at pH 7.3." [] subset: 3_STAR is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H39O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "335.5439" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "335.29501" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-]C([*])=O" xsd:string [Term] id: CHEBI:78895 name: docosatrienoate namespace: chebi_ontology def: "A polyunsaturated fatty acid anion containing 22 carbons and 3 double bonds. Major species at pH 7.3." [] subset: 3_STAR is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H37O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "333.5280" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "333.27936" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-]C([*])=O" xsd:string [Term] id: CHEBI:7896 name: hexadecanoate namespace: chebi_ontology alt_id: CHEBI:231736 def: "A long-chain fatty acid anion that is the conjugate base of hexadecanoic acid (palmitic acid); major species at pH 7.3." [] subset: 3_STAR synonym: "(16:0)" RELATED [ChEBI] synonym: "1-hexyldecanoate" RELATED [HMDB] synonym: "1-pentadecanecarboxylate" RELATED [ChEBI] synonym: "CH3-[CH2]14-COO(-)" RELATED [ChEBI] synonym: "hexadecanoate" EXACT [UniProt] synonym: "hexadecanoate" EXACT IUPAC_NAME [IUPAC] synonym: "Hexadecanoic acid, ion(1-)" RELATED [ChemIDplus] synonym: "n-hexadecanoate" RELATED [ChEBI] synonym: "n-hexadecoate" RELATED [ChEBI] synonym: "palmitate" RELATED [ChEBI] synonym: "pentadecanecarboxylate" RELATED [ChEBI] xref: Beilstein:3589907 {source="Beilstein"} xref: CAS:143-20-4 {source="ChemIDplus"} xref: Gmelin:344266 {source="Gmelin"} xref: HMDB:HMDB0000220 xref: MetaCyc:PALMITATE xref: Reaxys:3589907 {source="Reaxys"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C16H31O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C16H32O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16(17)18/h2-15H2,1H3,(H,17,18)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IPCSVZSSVZVIGE-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "255.41610" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "255.23295" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCCCCCCCCCC([O-])=O" xsd:string [Term] id: CHEBI:78990 name: (10Z)-heptadecenoate namespace: chebi_ontology def: "A monounsaturated fatty acid anion that is the conjugate base of (10Z)-heptadecenoic acid, obtained by deprotonation of the carboxy group; major species at pH 7.3." [] subset: 3_STAR synonym: "(10Z)-heptadec-10-enoate" EXACT IUPAC_NAME [IUPAC] synonym: "cis-10-heptadecenoate" RELATED [ChEBI] xref: PMID:20671299 {source="SUBMITTER"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C17H31O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C17H32O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17(18)19/h7-8H,2-6,9-16H2,1H3,(H,18,19)/p-1/b8-7-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GDTXICBNEOEPAZ-FPLPWBNLSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "267.42740" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "267.23295" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCC\\C=C/CCCCCCCCC([O-])=O" xsd:string [Term] id: CHEBI:7916 name: pantothenic acid namespace: chebi_ontology def: "A member of the class of pantothenic acids that is an amide formed from pantoic acid and beta-alanine." [] subset: 3_STAR synonym: "3-(2,4-dihydroxy-3,3-dimethylbutanamido)propanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "N-(2,4-dihydroxy-3,3-dimethylbutanoyl)-beta-alanine" RELATED [ChEBI] synonym: "Pantothenic acid" EXACT [KEGG_COMPOUND] xref: Beilstein:1727062 {source="Beilstein"} xref: CAS:599-54-2 {source="ChemIDplus"} xref: DrugBank:DB01783 xref: HMDB:HMDB0000210 xref: KEGG:C00864 xref: KEGG:D07413 xref: PMID:24727172 {source="Europe PMC"} xref: Reaxys:1727062 {source="Reaxys"} xref: Wikipedia:Pantothenic_acid is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H17NO5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H17NO5/c1-9(2,5-11)7(14)8(15)10-4-3-6(12)13/h7,11,14H,3-5H2,1-2H3,(H,10,15)(H,12,13)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GHOKWGTUZJEAQD-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "219.23502" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "219.11067" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)(CO)C(O)C(=O)NCCC(O)=O" xsd:string [Term] id: CHEBI:7936 name: paroxetine namespace: chebi_ontology def: "A benzodioxole that consists of piperidine bearing 1,3-benzodioxol-5-yloxy)methyl and 4-fluorophenyl substituents at positions 3 and 4 respectively; the (3S,4R)-diastereomer. Highly potent and selective 5-HT uptake inhibitor that binds with high affinity to the serotonin transporter (Ki = 0.05 nM). Ki values are 1.1, 350 and 1100 nM for inhibition of [3H]-5-HT, [3H]-l-NA and [3H]-DA uptake respectively. Displays minimal affinity for alpha1-, alpha2- or beta-adrenoceptors, 5-HT2A, 5-HT1A, D2 or H1 receptors at concentrations below 1000 nM, however displays weak affinity for muscarinic ACh receptors (Ki = 42 nM). Antidepressant and anxiolytic in vivo." [] subset: 3_STAR synonym: "(-)-(3S,4R)-4-(p-fluorophenyl)-3-((3,4-(methylenedioxy)phenoxy)methyl)piperidine" RELATED [ChemIDplus] synonym: "(3S,4R)-3-[(1,3-benzodioxol-5-yloxy)methyl]-4-(4-fluorophenyl)piperidine" EXACT IUPAC_NAME [IUPAC] synonym: "(3S-trans)-3-((1,3-benzodioxol-5-yloxy)methyl)-4-(4-fluorophenyl)piperidine" RELATED [ChemIDplus] synonym: "paroxetina" RELATED INN [DrugBank] synonym: "Paroxetine" EXACT [KEGG_COMPOUND] synonym: "paroxetinum" RELATED INN [DrugBank] xref: Beilstein:7467879 {source="Beilstein"} xref: CAS:61869-08-7 {source="ChemIDplus"} xref: CAS:61869-08-7 {source="KEGG COMPOUND"} xref: Drug_Central:2068 {source="DrugCentral"} xref: DrugBank:DB00715 xref: KEGG:C07415 xref: KEGG:D02362 xref: LINCS:LSM-2843 xref: PMID:11009210 {source="Europe PMC"} xref: PMID:11169163 {source="Europe PMC"} xref: PMID:11271409 {source="Europe PMC"} xref: PMID:11281965 {source="Europe PMC"} xref: PMID:11324355 {source="Europe PMC"} xref: PMID:11360029 {source="Europe PMC"} xref: PMID:11513198 {source="Europe PMC"} xref: PMID:11563413 {source="Europe PMC"} xref: PMID:11565622 {source="Europe PMC"} xref: PMID:11819027 {source="Europe PMC"} xref: PMID:11893234 {source="Europe PMC"} xref: PMID:11910269 {source="Europe PMC"} xref: PMID:12027788 {source="Europe PMC"} xref: PMID:12088162 {source="Europe PMC"} xref: PMID:12369443 {source="Europe PMC"} xref: PMID:12421645 {source="Europe PMC"} xref: PMID:12818234 {source="Europe PMC"} xref: PMID:12820211 {source="Europe PMC"} xref: PMID:12906023 {source="Europe PMC"} xref: PMID:12920419 {source="Europe PMC"} xref: PMID:14516531 {source="Europe PMC"} xref: PMID:14521492 {source="Europe PMC"} xref: PMID:14566196 {source="Europe PMC"} xref: PMID:14566200 {source="Europe PMC"} xref: PMID:14619895 {source="Europe PMC"} xref: PMID:14624192 {source="Europe PMC"} xref: PMID:14673053 {source="Europe PMC"} xref: PMID:14689334 {source="Europe PMC"} xref: PMID:14978354 {source="Europe PMC"} xref: PMID:15048901 {source="Europe PMC"} xref: PMID:15199661 {source="Europe PMC"} xref: PMID:15241233 {source="Europe PMC"} xref: PMID:15264994 {source="Europe PMC"} xref: PMID:15374134 {source="Europe PMC"} xref: PMID:15376524 {source="Europe PMC"} xref: PMID:15544025 {source="Europe PMC"} xref: PMID:15613191 {source="Europe PMC"} xref: PMID:15845695 {source="Europe PMC"} xref: PMID:15853570 {source="Europe PMC"} xref: PMID:15903129 {source="Europe PMC"} xref: PMID:15963219 {source="Europe PMC"} xref: PMID:15992089 {source="Europe PMC"} xref: PMID:16395417 {source="Europe PMC"} xref: PMID:16397315 {source="Europe PMC"} xref: PMID:16426087 {source="Europe PMC"} xref: PMID:16765127 {source="Europe PMC"} xref: PMID:16822276 {source="Europe PMC"} xref: PMID:16913391 {source="Europe PMC"} xref: PMID:17122538 {source="Europe PMC"} xref: PMID:17162096 {source="Europe PMC"} xref: PMID:17219219 {source="Europe PMC"} xref: PMID:17286545 {source="Europe PMC"} xref: PMID:17452166 {source="Europe PMC"} xref: PMID:17559097 {source="Europe PMC"} xref: PMID:17612590 {source="Europe PMC"} xref: PMID:17652957 {source="Europe PMC"} xref: PMID:17874333 {source="Europe PMC"} xref: PMID:18273418 {source="Europe PMC"} xref: PMID:18345955 {source="Europe PMC"} xref: PMID:18808757 {source="Europe PMC"} xref: PMID:18983224 {source="Europe PMC"} xref: PMID:19687003 {source="Europe PMC"} xref: PMID:19851065 {source="Europe PMC"} xref: PMID:21404089 {source="Europe PMC"} xref: PMID:21452176 {source="Europe PMC"} xref: PMID:21739267 {source="Europe PMC"} xref: PMID:21908494 {source="Europe PMC"} xref: PMID:21909633 {source="Europe PMC"} xref: PMID:21922171 {source="Europe PMC"} xref: PMID:21939725 {source="Europe PMC"} xref: PMID:22153922 {source="Europe PMC"} xref: PMID:22198456 {source="Europe PMC"} xref: PMID:22212003 {source="Europe PMC"} xref: PMID:22240860 {source="Europe PMC"} xref: PMID:22263916 {source="Europe PMC"} xref: PMID:22283559 {source="Europe PMC"} xref: PMID:22353759 {source="Europe PMC"} xref: PMID:22377745 {source="Europe PMC"} xref: Reaxys:7467879 {source="Reaxys"} xref: Wikipedia:Paroxetine is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H20FNO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H20FNO3/c20-15-3-1-13(2-4-15)17-7-8-21-10-14(17)11-22-16-5-6-18-19(9-16)24-12-23-18/h1-6,9,14,17,21H,7-8,10-12H2/t14-,17-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "AHOUBRCZNHFOSL-YOEHRIQHSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "329.36540" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "329.14272" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]1(CCNC[C@H]1COc1ccc2OCOc2c1)c1ccc(F)cc1" xsd:string [Term] id: CHEBI:7939 name: parthenolide namespace: chebi_ontology def: "A sesquiterpene lactone and active principle of Feverfew (Tanacetum parthenium)." [] subset: 3_STAR synonym: "(-)-Parthenolide" RELATED [ChemIDplus] synonym: "(1aR,4E,7aS,10aS,10bR)-1a,5-dimethyl-8-methylidene-2,3,6,7,7a,8,10a,10b-octahydrooxireno[9,10]cyclodeca[1,2-b]furan-9(1aH)-one" EXACT IUPAC_NAME [IUPAC] synonym: "4,5-alpha-Epoxy-6-beta-hydroxygermacra-1(10),11(13)-dien-12-oic acid gamma-lactone" RELATED [ChemIDplus] synonym: "Parthenolide" EXACT [KEGG_COMPOUND] synonym: "parthenolide" EXACT [UniProt] xref: Beilstein:3550011 {source="Beilstein"} xref: CAS:20554-84-1 {source="ChemIDplus"} xref: CAS:20554-84-1 {source="KEGG COMPOUND"} xref: KEGG:C07609 xref: KNApSAcK:C00003345 xref: LIPID_MAPS_instance:LMPR0103090002 {source="LIPID MAPS"} xref: MeSH:C002669 xref: NCIt:C28776 xref: NCIt:C90306 xref: PMID:11410248 {source="Europe PMC"} xref: PMID:11837788 {source="Europe PMC"} xref: PMID:11961112 {source="Europe PMC"} xref: PMID:12417429 {source="Europe PMC"} xref: PMID:12628675 {source="Europe PMC"} xref: PMID:14501955 {source="Europe PMC"} xref: PMID:15501437 {source="Europe PMC"} xref: PMID:15616293 {source="Europe PMC"} xref: PMID:15987517 {source="Europe PMC"} xref: PMID:16778086 {source="Europe PMC"} xref: PMID:17051330 {source="Europe PMC"} xref: PMID:17200339 {source="Europe PMC"} xref: PMID:17986299 {source="Europe PMC"} xref: PMID:19201992 {source="Europe PMC"} xref: PMID:19555300 {source="Europe PMC"} xref: PMID:19949351 {source="Europe PMC"} xref: PMID:22688575 {source="Europe PMC"} xref: PMID:23065294 {source="Europe PMC"} xref: PMID:23192276 {source="Europe PMC"} xref: PMID:23264600 {source="Europe PMC"} xref: PMID:23688583 {source="Europe PMC"} xref: PMID:23746953 {source="Europe PMC"} xref: PMID:23792430 {source="Europe PMC"} xref: PMID:23797801 {source="Europe PMC"} xref: PMID:23876538 {source="Europe PMC"} xref: PMID:23898080 {source="Europe PMC"} xref: PMID:23933184 {source="Europe PMC"} xref: Reaxys:3550011 {source="Reaxys"} xref: Wikipedia:Parthenolide is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:24913 ! isoprenoid relationship: has_role CHEBI:35475 ! non-steroidal anti-inflammatory drug relationship: has_role CHEBI:35481 ! non-narcotic analgesic property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C15H20O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C15H20O3/c1-9-5-4-8-15(3)13(18-15)12-11(7-6-9)10(2)14(16)17-12/h5,11-13H,2,4,6-8H2,1,3H3/b9-5+/t11-,12-,13+,15+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KTEXNACQROZXEV-PVLRGYAZSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "248.31750" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "248.14124" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12CC\\C(C)=C\\CC[C@@]3(C)O[C@]3([H])[C@@]1([H])OC(=O)C2=C" xsd:string [Term] id: CHEBI:7959 name: D-penicillamine namespace: chebi_ontology alt_id: CHEBI:469179 def: "An optically active form of penicillamine having D-configuration. Pharmaceutical form (L-form is toxic) of chelating agent used to treat heavy metal poisoning." [] subset: 3_STAR synonym: "(-)-penicillamine" RELATED [ChemIDplus] synonym: "(2S)-2-amino-3-methyl-3-sulfanylbutanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "(S)-2-amino-3-mercapto-3-methylbutanoic acid" RELATED [ChEMBL] synonym: "(S)-3,3-dimethylcysteine" RELATED [ChemIDplus] synonym: "3-mercapto-D-valine" RELATED [ChemIDplus] synonym: "3-sulfanyl-D-valine" EXACT IUPAC_NAME [IUPAC] synonym: "Cuprimine" RELATED BRAND_NAME [KEGG_DRUG] synonym: "D-(-)-penicillamine" RELATED [ChemIDplus] synonym: "D-beta,beta-dimethylcysteine" RELATED [NIST_Chemistry_WebBook] synonym: "D-Penamine" RELATED BRAND_NAME [NIST_Chemistry_WebBook] synonym: "Depen" RELATED BRAND_NAME [KEGG_DRUG] synonym: "PA" RELATED [ChEBI] synonym: "penicilamina" RELATED INN [ChemIDplus] synonym: "penicillamine" RELATED INN [WHO_MedNet] synonym: "penicillamine" RELATED INN [KEGG_DRUG] synonym: "penicillaminum" RELATED INN [ChemIDplus] xref: Beilstein:1722375 {source="Beilstein"} xref: CAS:52-67-5 {source="KEGG COMPOUND"} xref: CAS:52-67-5 {source="NIST Chemistry WebBook"} xref: CAS:52-67-5 {source="ChemIDplus"} xref: ChemIDplus:52-67-5 xref: CiteXplore:10408968 xref: CiteXplore:1709917 xref: CiteXplore:2420897 xref: Drug_Central:2081 {source="DrugCentral"} xref: DrugBank:DB00859 xref: HMDB:HMDB0014997 xref: KEGG COMPOUND:52-67-5 xref: KEGG COMPOUND:C07418 xref: KEGG DRUG:D00496 xref: KEGG:C07418 xref: KEGG:D00496 xref: MeSH:D010396 xref: NCIt:C729 xref: NIST Chemistry WebBook:52-67-5 xref: PDBeChem:LEI xref: PMID:10408968 {source="Europe PMC"} xref: PMID:13793949 {source="Europe PMC"} xref: PMID:16736232 {source="Europe PMC"} xref: PMID:1709917 {source="Europe PMC"} xref: PMID:18570451 {source="Europe PMC"} xref: PMID:19904729 {source="Europe PMC"} xref: PMID:21989991 {source="Europe PMC"} xref: PMID:22076732 {source="Europe PMC"} xref: PMID:22151785 {source="Europe PMC"} xref: PMID:22169274 {source="Europe PMC"} xref: PMID:22683336 {source="Europe PMC"} xref: PMID:23200399 {source="Europe PMC"} xref: PMID:23342748 {source="Europe PMC"} xref: PMID:23375251 {source="Europe PMC"} xref: PMID:2420897 {source="Europe PMC"} xref: PMID:7196231 {source="Europe PMC"} xref: Reaxys:1722375 {source="Reaxys"} xref: SNOMEDCT:259016002 xref: SNOMEDCT:387235007 xref: SNOMEDCT:4219002 xref: Wikipedia:Penicillamine is_a: CHEBI:33709 ! amino acid is_a: EFO:0004417 ! amide relationship: has_role CHEBI:33281 ! antimicrobial agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H11NO2S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H11NO2S/c1-5(2,9)3(6)4(7)8/h3,9H,6H2,1-2H3,(H,7,8)/t3-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VVNCNSJFMMFHPL-VKHMYHEASA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "149.21100" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "149.05105" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)(S)[C@@H](N)C(O)=O" xsd:string [Term] id: CHEBI:8021 name: pergolide mesylate namespace: chebi_ontology def: "A methanesulfonate salt obtained from pergolide by mixing eqimolar amount of pergolide and methanesulfonic acid. A dopamine D2 receptor agonist which also has D1 and D2 agonist properties, it is used in the management of Parkinson's disease, although it was withdrawn from the U.S. and Canadian markets in 2007 due to an increased risk of cardiac valve dysfunction." [] subset: 3_STAR synonym: "(8beta)-8-[(methylsulfanyl)methyl]-6-propylergolin-6-ium methanesulfonate" RELATED [IUPAC] synonym: "(8beta)-8-[(methylsulfanyl)methyl]-6-propylergoline methanesulfonate" EXACT IUPAC_NAME [IUPAC] synonym: "Pergolide mesilate" RELATED [KEGG_DRUG] synonym: "pergolide methanesulfonate" RELATED [ChEBI] synonym: "pergolide monomesylate" RELATED [ChEBI] synonym: "pergolide monomethanesulfonate" RELATED [ChEBI] synonym: "Permax" RELATED BRAND_NAME [KEGG_DRUG] xref: CAS:66104-23-2 {source="ChemIDplus"} xref: CAS:66104-23-2 {source="KEGG DRUG"} xref: ChEMBL:349814 xref: ChemIDplus:66104-23-2 xref: Chemspider:43504 xref: CiteXplore:6889702 xref: CiteXplore:8748627 xref: DrugBank:DB01186 xref: DrugBank:DBSALT002445 xref: KEGG DRUG:66104-23-2 xref: KEGG DRUG:D00502 xref: KEGG:D00502 xref: NCIt:C47665 xref: PMID:10365192 {source="Europe PMC"} xref: PMID:11257938 {source="Europe PMC"} xref: PMID:12378837 {source="Europe PMC"} xref: PMID:12446951 {source="Europe PMC"} xref: PMID:14532675 {source="Europe PMC"} xref: PMID:15257688 {source="Europe PMC"} xref: PMID:15591656 {source="Europe PMC"} xref: PMID:15602103 {source="Europe PMC"} xref: PMID:19210262 {source="Europe PMC"} xref: PMID:19801850 {source="Europe PMC"} xref: PMID:20949429 {source="Europe PMC"} xref: PMID:21324306 {source="Europe PMC"} xref: PMID:21507864 {source="Europe PMC"} xref: PMID:23966481 {source="Europe PMC"} xref: PMID:24134630 {source="Europe PMC"} xref: PMID:27301465 {source="Europe PMC"} xref: PMID:31082785 {source="Europe PMC"} xref: PMID:6889702 {source="Europe PMC"} xref: PMID:7562267 {source="Europe PMC"} xref: PMID:8748627 {source="Europe PMC"} xref: Reaxys:5698117 {source="Reaxys"} xref: SNOMEDCT:108469007 is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H30N2O3S2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H26N2S.CH4O3S/c1-3-7-21-11-13(12-22-2)8-16-15-5-4-6-17-19(15)14(10-20-17)9-18(16)21;1-5(2,3)4/h4-6,10,13,16,18,20H,3,7-9,11-12H2,1-2H3;1H3,(H,2,3,4)/t13-,16-,18-;/m1./s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "UWCVGPLTGZWHGS-ZORIOUSZSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "410.59400" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "410.16979" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CS(O)(=O)=O.[H][C@@]12Cc3c[nH]c4cccc(c34)[C@@]1([H])C[C@@H](CSC)CN2CCC" xsd:string [Term] id: CHEBI:8028 name: perphenazine namespace: chebi_ontology def: "A phenothiazine derivative in which the phenothiazine tricycle carries a chloro substituent at the 2-position and a 3-[4-(2-hydroxyethyl)piperazin-1-yl]propyl group at N-10." [] subset: 3_STAR synonym: "2-(4-[3-(2-chloro-10H-phenothiazin-10-yl)propyl]-1-piperazinyl)ethanol" RELATED [NIST_Chemistry_WebBook] synonym: "2-chloro-10-(3-(4-(2-hydroxyethyl)piperazin-1-yl)propyl)phenothiazine" RELATED [NIST_Chemistry_WebBook] synonym: "2-{4-[3-(2-chloro-10H-phenothiazin-10-yl)propyl]piperazin-1-yl}ethanol" EXACT IUPAC_NAME [IUPAC] synonym: "4-[3-(2-chloro-10H-phenothiazin-10-yl)propyl]-1-piperazineethanol" RELATED [NIST_Chemistry_WebBook] synonym: "4-[3-(2-chlorophenothiazin-10-yl)propyl]-1-piperazineethanol" RELATED [NIST_Chemistry_WebBook] synonym: "Chlorpiprazine" RELATED [ChemIDplus] synonym: "gamma-(4-(beta-hydroxyethyl)piperazin-1-yl)propyl-2-chlorophenothiazine" RELATED [NIST_Chemistry_WebBook] synonym: "perfenazina" RELATED INN [WHO_MedNet] synonym: "Perfenazine" RELATED [ChemIDplus] synonym: "Perphenazin" RELATED [ChemIDplus] synonym: "Perphenazine" EXACT [KEGG_COMPOUND] synonym: "perphenazine" RELATED INN [WHO_MedNet] synonym: "perphenazinum" RELATED INN [WHO_MedNet] synonym: "Trilafon" RELATED [ChemIDplus] xref: Beilstein:54730 {source="Beilstein"} xref: CAS:58-39-9 {source="NIST Chemistry WebBook"} xref: CAS:58-39-9 {source="ChemIDplus"} xref: CAS:58-39-9 {source="KEGG COMPOUND"} xref: ChemIDplus:58-39-9 xref: CiteXplore:1650428 xref: Drug_Central:2113 {source="DrugCentral"} xref: DrugBank:DB00850 xref: HMDB:HMDB0014988 xref: KEGG COMPOUND:58-39-9 xref: KEGG COMPOUND:C07427 xref: KEGG DRUG:D00503 xref: KEGG:C07427 xref: KEGG:D00503 xref: LINCS:LSM-2224 xref: MeSH:D010546 xref: NCIt:C29355 xref: NIST Chemistry WebBook:58-39-9 xref: Patent:US2766235 xref: Patent:US2860138 xref: PMID:14401911 {source="Europe PMC"} xref: PMID:15674907 {source="Europe PMC"} xref: PMID:1650428 {source="Europe PMC"} xref: PMID:26660173 {source="Europe PMC"} xref: PMID:27150024 {source="Europe PMC"} xref: Reaxys:54730 {source="Reaxys"} xref: SNOMEDCT:387229007 xref: SNOMEDCT:41147003 xref: Wikipedia:Perphenazine is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:37930 ! phenothiazine antipsychotic drug relationship: has_role CHEBI:48561 ! dopaminergic antagonist relationship: has_role CHEBI:50919 ! antiemetic property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C21H26ClN3OS" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C21H26ClN3OS/c22-17-6-7-21-19(16-17)25(18-4-1-2-5-20(18)27-21)9-3-8-23-10-12-24(13-11-23)14-15-26/h1-2,4-7,16,26H,3,8-15H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RGCVKNLCSQQDEP-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "403.96946" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "403.14851" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OCCN1CCN(CCCN2c3ccccc3Sc3ccc(Cl)cc23)CC1" xsd:string [Term] id: CHEBI:8050 name: phenacetin namespace: chebi_ontology def: "A member of the class of acetamides that is acetamide in which one of the hydrogens attached to the nitrogen is substituted by a 4-ethoxyphenyl group." [] subset: 3_STAR synonym: "1-Acetamido-4-ethoxybenzene" RELATED [ChemIDplus] synonym: "4-Ethoxyacetanilide" RELATED [ChemIDplus] synonym: "Acetophenetidin" RELATED [KEGG_COMPOUND] synonym: "Acetophenetidine" RELATED [DrugBank] synonym: "Acetophenetin" RELATED [DrugBank] synonym: "Acetphenetidin" RELATED [DrugBank] synonym: "Achrocidin" RELATED BRAND_NAME [DrugBank] synonym: "Codempiral" RELATED BRAND_NAME [DrugBank] synonym: "Commotional" RELATED BRAND_NAME [DrugBank] synonym: "Contradol" RELATED BRAND_NAME [DrugBank] synonym: "Contradouleur" RELATED BRAND_NAME [DrugBank] synonym: "Fenacetina" RELATED INN [ChemIDplus] synonym: "N-(4-ethoxyphenyl)acetamide" EXACT IUPAC_NAME [IUPAC] synonym: "N-(4-ethoxyphenyl)acetamide" RELATED [UniProt] synonym: "Phenacetin" EXACT [KEGG_COMPOUND] synonym: "phenacetin" RELATED INN [ChEBI] synonym: "Phenacetine" RELATED INN [ChemIDplus] synonym: "Phenacetinum" RELATED INN [ChemIDplus] xref: CAS:62-44-2 {source="KEGG COMPOUND"} xref: CAS:62-44-2 {source="NIST Chemistry WebBook"} xref: CAS:62-44-2 {source="ChemIDplus"} xref: Drug_Central:2115 {source="DrugCentral"} xref: DrugBank:DB03783 xref: KEGG:C07591 xref: KEGG:D00569 xref: LINCS:LSM-2851 xref: Patent:US2887513 xref: PDBeChem:N4E xref: PMID:24201458 {source="Europe PMC"} xref: PMID:24447449 {source="Europe PMC"} xref: Reaxys:1869238 {source="Reaxys"} xref: Wikipedia:Phenacetin is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H13NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H13NO2/c1-3-13-10-6-4-9(5-7-10)11-8(2)12/h4-7H,3H2,1-2H3,(H,11,12)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CPJSUEIXXCENMM-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "179.216" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "179.09463" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C=1C=C(OCC)C=CC1NC(C)=O" xsd:string [Term] id: CHEBI:80549 name: 13,16,19-Docosatrienoic acid namespace: chebi_ontology subset: 2_STAR synonym: "(13E,16E,19E)-Docosa-13,16,19-trienoic acid" RELATED [KEGG_COMPOUND] xref: KEGG:C16534 is_a: CHEBI:35366 ! fatty acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C22H38O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C22H38O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-18-19-20-21-22(23)24/h3-4,6-7,9-10H,2,5,8,11-21H2,1H3,(H,23,24)/b4-3+,7-6+,10-9+" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WBBQTNCISCKUMU-IUQGRGSQSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "334.53590" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "334.28718" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC\\C=C\\C\\C=C\\C\\C=C\\CCCCCCCCCCCC(O)=O" xsd:string [Term] id: CHEBI:8069 name: phenobarbital namespace: chebi_ontology alt_id: CHEBI:102217 def: "A member of the class of barbiturates, the structure of which is that of barbituric acid substituted at C-5 by ethyl and phenyl groups." [] subset: 3_STAR synonym: "5-ethyl-5-phenyl-2,4,6(1H,3H,5H)-pyrimidinetrione" RELATED [NIST_Chemistry_WebBook] synonym: "5-Ethyl-5-phenyl-pyrimidine-2,4,6-trione" RELATED [ChEMBL] synonym: "5-Ethyl-5-phenylbarbituric acid" RELATED [ChemIDplus] synonym: "5-ethyl-5-phenylpyrimidine-2,4,6(1H,3H,5H)-trione" EXACT IUPAC_NAME [IUPAC] synonym: "5-ethyl-5-phenylpyrimidine-2,4,6(1H,3H,5H)-trione" RELATED [ChEMBL] synonym: "5-Phenyl-5-ethylbarbituric acid" RELATED [ChemIDplus] synonym: "Luminal" RELATED BRAND_NAME [DrugBank] synonym: "Phenobarbital" EXACT [KEGG_COMPOUND] synonym: "phenobarbital" RELATED INN [ChemIDplus] synonym: "Phenobarbitol" RELATED [DrugBank] synonym: "Phenobarbitone" RELATED [ChemIDplus] synonym: "Phenobarbituric Acid" RELATED [DrugBank] synonym: "Phenylaethylbarbitursaeure" RELATED [ChEBI] synonym: "Phenylethylbarbiturate" RELATED [DrugBank] synonym: "Phenylethylbarbituric Acid" RELATED [DrugBank] synonym: "Phenylethylbarbitursaeure" RELATED [ChEBI] synonym: "PHENYLETHYLMALONYLUREA" RELATED [ChEMBL] synonym: "Phenylethylmalonylurea" RELATED [HMDB] xref: Beilstein:233363 {source="Beilstein"} xref: CAS:50-06-6 {source="ChemIDplus"} xref: CAS:50-06-6 {source="KEGG COMPOUND"} xref: CAS:50-06-6 {source="NIST Chemistry WebBook"} xref: Drug_Central:2134 {source="DrugCentral"} xref: DrugBank:DB01174 xref: Gmelin:336231 {source="Gmelin"} xref: HMDB:HMDB0015305 xref: KEGG:C07434 xref: KEGG:D00506 xref: MeSH:D010634 xref: NCIt:C739 xref: Patent:US1025872 xref: PMID:10866370 {source="ChEMBL"} xref: PMID:10891117 {source="ChEMBL"} xref: PMID:11311072 {source="ChEMBL"} xref: PMID:12361404 {source="ChEMBL"} xref: PMID:12873507 {source="ChEMBL"} xref: PMID:1495012 {source="ChEMBL"} xref: PMID:15324906 {source="ChEMBL"} xref: PMID:15857133 {source="ChEMBL"} xref: PMID:16139502 {source="ChEMBL"} xref: PMID:16190747 {source="ChEMBL"} xref: PMID:16789751 {source="ChEMBL"} xref: PMID:16793262 {source="ChEMBL"} xref: PMID:1681105 {source="ChEMBL"} xref: PMID:17300161 {source="ChEMBL"} xref: PMID:17481896 {source="ChEMBL"} xref: PMID:17827020 {source="ChEMBL"} xref: PMID:17870541 {source="ChEMBL"} xref: PMID:1875341 {source="ChEMBL"} xref: PMID:1992141 {source="ChEMBL"} xref: PMID:2061925 {source="ChEMBL"} xref: PMID:2170646 {source="ChEMBL"} xref: PMID:2296016 {source="ChEMBL"} xref: PMID:2308141 {source="ChEMBL"} xref: PMID:2308142 {source="ChEMBL"} xref: PMID:2579237 {source="ChEMBL"} xref: PMID:2724304 {source="ChEMBL"} xref: PMID:3016269 {source="ChEMBL"} xref: PMID:3336019 {source="ChEMBL"} xref: PMID:3572984 {source="ChEMBL"} xref: PMID:3599019 {source="ChEMBL"} xref: PMID:3654008 {source="Europe PMC"} xref: PMID:3735320 {source="ChEMBL"} xref: PMID:3783589 {source="ChEMBL"} xref: PMID:3783590 {source="ChEMBL"} xref: PMID:3820228 {source="ChEMBL"} xref: PMID:3950916 {source="ChEMBL"} xref: PMID:3950919 {source="ChEMBL"} xref: PMID:4032429 {source="ChEMBL"} xref: PMID:6716399 {source="ChEMBL"} xref: PMID:6737420 {source="ChEMBL"} xref: PMID:6864729 {source="ChEMBL"} xref: PMID:7205879 {source="ChEMBL"} xref: PMID:7381857 {source="ChEMBL"} xref: PMID:7562939 {source="ChEMBL"} xref: PMID:7799408 {source="ChEMBL"} xref: PMID:8035421 {source="ChEMBL"} xref: PMID:8230125 {source="ChEMBL"} xref: PMID:8246220 {source="ChEMBL"} xref: PMID:8627613 {source="ChEMBL"} xref: PMID:8691481 {source="ChEMBL"} xref: PMID:9016327 {source="ChEMBL"} xref: PMID:9544213 {source="ChEMBL"} xref: Reaxys:233363 {source="Reaxys"} xref: SNOMEDCT:373505007 xref: SNOMEDCT:51073002 xref: Wikipedia:Phenobarbital is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12H12N2O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C12H12N2O3/c1-2-12(8-6-4-3-5-7-8)9(15)13-11(17)14-10(12)16/h3-7H,2H2,1H3,(H2,13,14,15,16,17)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DDBREPKUVSBGFI-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "232.23530" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "232.08479" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCC1(C(=O)NC(=O)NC1=O)c1ccccc1" xsd:string [Term] id: CHEBI:80730 name: Coronatine namespace: chebi_ontology subset: 2_STAR xref: CAS:62251-96-1 {source="KEGG COMPOUND"} xref: KEGG:C16790 xref: KNApSAcK:C00000367 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H25NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H25NO4/c1-3-10-7-13-12(5-6-15(13)20)14(8-10)16(21)19-18(17(22)23)9-11(18)4-2/h8,10-13H,3-7,9H2,1-2H3,(H,19,21)(H,22,23)/t10-,11+,12+,13+,18+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FMGBNISRFNDECK-CZSBRECXSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "319.39540" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "319.17836" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC[C@H]1C[C@@]1(NC(=O)C1=C[C@H](CC)C[C@H]2[C@@H]1CCC2=O)C(O)=O" xsd:string [Term] id: CHEBI:8093 name: phenylephrine namespace: chebi_ontology def: "A member of the class of the class of phenylethanolamines that is (1R)-2-(methylamino)-1-phenylethan-1-ol carrying an additional hydroxy substituent at position 3 on the phenyl ring." [] subset: 3_STAR synonym: "(-)-m-hydroxy-alpha-(methylaminomethyl)benzyl alcohol" RELATED [NIST_Chemistry_WebBook] synonym: "3-[(1R)-1-hydroxy-2-(methylamino)ethyl]phenol" EXACT IUPAC_NAME [IUPAC] synonym: "Benzenemethanol, 3-hydroxy-.alpha.-[(methylamino)methyl]-, (R)-" RELATED [NIST_Chemistry_WebBook] synonym: "Benzenemethanol, 3-hydroxy-alpha-((methylamino)methyl)-, (R)-" RELATED [ChemIDplus] synonym: "Benzyl alcohol, m-hydroxy-alpha-((methylamino)methyl)-, (-)-" RELATED [ChemIDplus] synonym: "fenilefrina" RELATED INN [ChemIDplus] synonym: "l-(3-Hydroxyphenyl)-N-methylethanolamine" RELATED [NIST_Chemistry_WebBook] synonym: "Phenylephrine" EXACT [KEGG_COMPOUND] synonym: "phenylephrine" RELATED INN [ChemIDplus] synonym: "phenylephrinum" RELATED INN [ChemIDplus] synonym: "R(-)-Phenylephrine" RELATED [ChemIDplus] xref: CAS:59-42-7 {source="NIST Chemistry WebBook"} xref: CAS:59-42-7 {source="ChemIDplus"} xref: CAS:59-42-7 {source="KEGG COMPOUND"} xref: Drug_Central:2146 {source="DrugCentral"} xref: DrugBank:DB00388 xref: HMDB:HMDB0002182 xref: KEGG:C07441 xref: KEGG:D08365 xref: LINCS:LSM-15380 xref: MeSH:D010656 xref: NCIt:C62067 xref: Patent:US1932347 xref: Patent:US1954389 xref: PMID:10100801 {source="Europe PMC"} xref: PMID:11064374 {source="Europe PMC"} xref: PMID:11528305 {source="Europe PMC"} xref: PMID:12172708 {source="Europe PMC"} xref: PMID:15492464 {source="Europe PMC"} xref: PMID:15522277 {source="Europe PMC"} xref: PMID:15686119 {source="Europe PMC"} xref: PMID:19372348 {source="Europe PMC"} xref: PMID:19427353 {source="Europe PMC"} xref: PMID:24588024 {source="Europe PMC"} xref: PMID:25719378 {source="Europe PMC"} xref: PMID:25902390 {source="Europe PMC"} xref: PMID:26143019 {source="Europe PMC"} xref: PMID:26428281 {source="Europe PMC"} xref: PMID:26513673 {source="Europe PMC"} xref: PMID:26597497 {source="Europe PMC"} xref: PMID:26709790 {source="Europe PMC"} xref: PMID:26873547 {source="Europe PMC"} xref: PMID:26928367 {source="Europe PMC"} xref: PMID:26991619 {source="Europe PMC"} xref: PMID:26992790 {source="Europe PMC"} xref: PMID:27020488 {source="Europe PMC"} xref: PMID:27117950 {source="Europe PMC"} xref: PMID:27164015 {source="Europe PMC"} xref: PMID:27249899 {source="Europe PMC"} xref: PMID:27288620 {source="Europe PMC"} xref: PMID:28166217 {source="Europe PMC"} xref: PMID:7516005 {source="Europe PMC"} xref: PMID:7879981 {source="Europe PMC"} xref: PMID:8763311 {source="Europe PMC"} xref: PMID:8853328 {source="Europe PMC"} xref: Reaxys:3198815 {source="Reaxys"} xref: SNOMEDCT:372771005 xref: SNOMEDCT:54765002 xref: Wikipedia:Phenylephrine is_a: CHEBI:33853 ! phenols relationship: has_role CHEBI:35569 ! alpha-adrenergic agonist relationship: has_role CHEBI:38147 ! cardiotonic drug relationship: has_role CHEBI:50514 ! vasoconstrictor agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H13NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H13NO2/c1-10-6-9(12)7-3-2-4-8(11)5-7/h2-5,9-12H,6H2,1H3/t9-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SONNWYBIRXJNDC-VIFPVBQESA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "167.20500" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "167.09463" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CNC[C@H](O)c1cccc(O)c1" xsd:string [Term] id: CHEBI:8100 name: 3-phenyllactate namespace: chebi_ontology def: "A 2-hydroxy carboxylate that results from the removal of a proton from the carboxylic acid group of 3-phenyllactic acid." [] subset: 3_STAR synonym: "2-hydroxy-3-phenylpropanoate" EXACT IUPAC_NAME [IUPAC] synonym: "3-phenyllactate" EXACT [UniProt] synonym: "phenyllactate" RELATED [ChEBI] xref: Reaxys:3667177 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H9O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H10O3/c10-8(9(11)12)6-7-4-2-1-3-5-7/h1-5,8,10H,6H2,(H,11,12)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VOXXWSYKYCBWHO-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "165.16596" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "165.05572" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(Cc1ccccc1)C([O-])=O" xsd:string [Term] id: CHEBI:8107 name: phenytoin namespace: chebi_ontology alt_id: CHEBI:100921 def: "A imidazolidine-2,4-dione that consists of hydantoin bearing two phenyl substituents at position 5." [] subset: 3_STAR synonym: "5,5-Diphenyl-imidazolidine-2,4-dione" RELATED [ChEMBL] synonym: "5,5-diphenylimidazolidine-2,4-dione" EXACT IUPAC_NAME [IUPAC] synonym: "5,5-diphenylimidazolidine-2,4-dione" RELATED [ChEMBL] synonym: "5,5-diphenyltetrahydro-1H-2,4-imidazoledione" RELATED [ChEMBL] synonym: "DILANTIN" RELATED [ChEMBL] synonym: "fenitoina" RELATED INN [ChemIDplus] synonym: "PHENTYTOIN" RELATED [ChEMBL] synonym: "phenytoin" RELATED INN [ChemIDplus] synonym: "phenytoine" RELATED INN [ChemIDplus] synonym: "phenytoinum" RELATED INN [ChemIDplus] xref: Beilstein:384532 {source="Beilstein"} xref: CAS:57-41-0 {source="ChemIDplus"} xref: CAS:57-41-0 {source="KEGG COMPOUND"} xref: ChemIDplus:57-41-0 xref: CiteXplore:7602118 xref: Drug_Central:2152 {source="DrugCentral"} xref: DrugBank:DB00252 xref: HMDB:HMDB0014397 xref: KEGG COMPOUND:57-41-0 xref: KEGG COMPOUND:C07443 xref: KEGG DRUG:D00512 xref: KEGG:C07443 xref: KEGG:D00512 xref: LINCS:LSM-5663 xref: MeSH:D010672 xref: NCIt:C741 xref: Patent:WO2012174723 xref: PMID:10698828 {source="Europe PMC"} xref: PMID:12952753 {source="Europe PMC"} xref: PMID:15246836 {source="Europe PMC"} xref: PMID:15744730 {source="Europe PMC"} xref: PMID:16303054 {source="Europe PMC"} xref: PMID:7105825 {source="Europe PMC"} xref: PMID:7602118 {source="Europe PMC"} xref: PMID:9186244 {source="Europe PMC"} xref: Reaxys:384532 {source="Reaxys"} xref: SNOMEDCT:387220006 xref: SNOMEDCT:40556005 xref: Wikipedia:Phenytoin is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C15H12N2O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C15H12N2O2/c18-13-15(17-14(19)16-13,11-7-3-1-4-8-11)12-9-5-2-6-10-12/h1-10H,(H2,16,17,18,19)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CXOFVDLJLONNDW-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "252.26800" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "252.08988" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O=C1NC(=O)C(N1)(c1ccccc1)c1ccccc1" xsd:string [Term] id: CHEBI:81244 name: hyocholic acid namespace: chebi_ontology def: "A trihydroxy-5beta-cholanic acid in which the three hydroxy substituents are located at the 3alpha-, 6alpha- and 7alpha-positions." [] subset: 3_STAR synonym: "(3alpha,5beta,6alpha,7alpha)-3,6,7-trihydroxycholan-24-oic acid" RELATED [IUPAC] synonym: "(4R)-4-[(1S,2R,5R,7R,8R,9S,10S,11S,15R)-5,8,9-trihydroxy-2,15-dimethyltetracyclo[8.7.0.0^{2,7}.0^{11,15}]heptadecan-14-yl]pentanoic acid" RELATED [HMDB] synonym: "3alpha,6alpha,7alpha-trihydroxy-5beta-cholan-24-oic acid" EXACT IUPAC_NAME [IUPAC] synonym: "5b-Cholanic acid-3a,6a,7a-triol" RELATED [HMDB] synonym: "6alpha-Hydroxychenodeoxycholic acid" RELATED [KEGG_COMPOUND] synonym: "gamma-Muricholic acid" RELATED [HMDB] synonym: "gamma-muricholic acid" RELATED [HMDB] synonym: "Hyocholic acid" EXACT [KEGG_COMPOUND] synonym: "Iocholic acid" RELATED [KEGG_COMPOUND] xref: CAS:547-75-1 {source="KEGG COMPOUND"} xref: CAS:547-75-1 {source="ChemIDplus"} xref: HMDB:HMDB0000760 xref: KEGG:C17649 xref: LIPID_MAPS_instance:LMST04010064 {source="LIPID MAPS"} xref: PMID:10370651 {source="Europe PMC"} xref: PMID:10388717 {source="Europe PMC"} xref: PMID:22525741 {source="Europe PMC"} xref: PMID:24212143 {source="Europe PMC"} xref: PMID:27634100 {source="Europe PMC"} xref: PMID:3179836 {source="Europe PMC"} xref: PMID:4742563 {source="Europe PMC"} xref: PMID:7619860 {source="Europe PMC"} xref: Reaxys:3221235 {source="Reaxys"} xref: Wikipedia:Muricholic_acid is_a: CHEBI:35341 ! steroid is_a: EFO:0004416 ! acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C24H40O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C24H40O5/c1-13(4-7-19(26)27)15-5-6-16-20-17(9-11-23(15,16)2)24(3)10-8-14(25)12-18(24)21(28)22(20)29/h13-18,20-22,25,28-29H,4-12H2,1-3H3,(H,26,27)/t13-,14-,15-,16+,17+,18+,20+,21-,22+,23-,24-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DKPMWHFRUGMUKF-KWXDGCAGSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "408.572" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "408.28757" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C1[C@@]2([C@]3(CC[C@]4([C@]([C@@]3([C@@H]([C@@H]([C@@]2(C[C@@H](C1)O)[H])O)O)[H])(CC[C@]4([H])[C@@H](CCC(O)=O)C)[H])C)[H])C" xsd:string [Term] id: CHEBI:81278 name: 4-(4-Hydroxyphenyl)-2-butanol namespace: chebi_ontology subset: 2_STAR synonym: "4-HPB" RELATED [KEGG_COMPOUND] synonym: "Betuligenol" RELATED [KEGG_COMPOUND] synonym: "Rhododendrol" RELATED [KEGG_COMPOUND] xref: KEGG:C17690 is_a: CHEBI:33853 ! phenols property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H14O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H14O2/c1-8(11)2-3-9-4-6-10(12)7-5-9/h4-8,11-12H,2-3H2,1H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SFUCGABQOMYVJW-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "166.21700" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "166.09938" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(O)CCc1ccc(O)cc1" xsd:string [Term] id: CHEBI:8212 name: pimozide namespace: chebi_ontology def: "A member of the class of benzimidazoles that is 1,3-dihydro-2H-benzimidazol-2-one in which one of the nitrogens is substituted by a piperidin-4-yl group, which in turn is substituted on the nitrogen by a 4,4-bis(p-fluorophenyl)butyl group." [] subset: 3_STAR synonym: "1-{1-[4,4-bis(4-fluorophenyl)butyl]piperidin-4-yl}-1,3-dihydro-2H-benzimidazol-2-one" EXACT IUPAC_NAME [IUPAC] synonym: "Halomonth" RELATED BRAND_NAME [DrugBank] synonym: "Neoperidole" RELATED BRAND_NAME [DrugBank] synonym: "Opiran" RELATED BRAND_NAME [DrugBank] synonym: "Orap" RELATED BRAND_NAME [KEGG_DRUG] synonym: "pimozida" RELATED INN [ChemIDplus] synonym: "Pimozide" EXACT [KEGG_COMPOUND] synonym: "pimozide" EXACT [IUPHAR] synonym: "pimozide" RELATED INN [ChemIDplus] synonym: "pimozide" RELATED INN [WHO_MedNet] synonym: "pimozidum" RELATED INN [ChemIDplus] xref: Beilstein:729089 {source="Beilstein"} xref: CAS:2062-78-4 {source="ChemIDplus"} xref: CAS:2062-78-4 {source="NIST Chemistry WebBook"} xref: CAS:2062-78-4 {source="KEGG COMPOUND"} xref: Drug_Central:2172 {source="DrugCentral"} xref: DrugBank:DB01100 xref: HMDB:HMDB0015232 xref: KEGG:C07566 xref: KEGG:D00560 xref: LINCS:LSM-2001 xref: MeSH:D010868 xref: NCIt:C47672 xref: Reaxys:729089 {source="Reaxys"} xref: SNOMEDCT:108438008 xref: SNOMEDCT:386848009 xref: Wikipedia:Pimozide is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:35476 ! antipsychotic agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C28H29F2N3O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C28H29F2N3O/c29-22-11-7-20(8-12-22)25(21-9-13-23(30)14-10-21)4-3-17-32-18-15-24(16-19-32)33-27-6-2-1-5-26(27)31-28(33)34/h1-2,5-14,24-25H,3-4,15-19H2,(H,31,34)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YVUQSNJEYSNKRX-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "461.54620" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "461.22787" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Fc1ccc(cc1)C(CCCN1CCC(CC1)n1c2ccccc2[nH]c1=O)c1ccc(F)cc1" xsd:string [Term] id: CHEBI:8228 name: pioglitazone namespace: chebi_ontology def: "A member of the class of thiazolidenediones that is 1,3-thiazolidine-2,4-dione substituted by a benzyl group at position 5 which in turn is substituted by a 2-(5-ethylpyridin-2-yl)ethoxy group at position 4 of the phenyl ring. It exhibits hypoglycemic activity." [] subset: 3_STAR synonym: "(+-)-5-((4-(2-(5-ethyl-2-pyridinyl)ethoxy)phenyl)methyl)-2,4-thiazolidinedione" RELATED [ChemIDplus] synonym: "5-{4-[2-(5-ethylpyridin-2-yl)ethoxy]benzyl}-1,3-thiazolidine-2,4-dione" EXACT IUPAC_NAME [IUPAC] synonym: "pioglitazona" RELATED INN [ChemIDplus] synonym: "Pioglitazone" EXACT [KEGG_COMPOUND] synonym: "pioglitazone" RELATED INN [ChemIDplus] synonym: "pioglitazonum" RELATED INN [ChemIDplus] xref: Beilstein:3595485 {source="Beilstein"} xref: CAS:111025-46-8 {source="ChemIDplus"} xref: CAS:111025-46-8 {source="KEGG COMPOUND"} xref: Chemspider:4663 xref: Drug_Central:2179 {source="DrugCentral"} xref: DrugBank:DB01132 xref: HMDB:HMDB0015264 xref: KEGG:C07675 xref: KEGG:D08378 xref: LINCS:LSM-1592 xref: MeSH:C060836 xref: NCIt:C71633 xref: Patent:EP193256 xref: Patent:US4687777 xref: PMID:12879407 {source="Europe PMC"} xref: PMID:14522601 {source="Europe PMC"} xref: PMID:17628757 {source="Europe PMC"} xref: PMID:18215232 {source="Europe PMC"} xref: PMID:20797618 {source="Europe PMC"} xref: PMID:27842070 {source="Europe PMC"} xref: PMID:33798599 {source="Europe PMC"} xref: PMID:33864097 {source="Europe PMC"} xref: PMID:33983968 {source="Europe PMC"} xref: PMID:33995271 {source="Europe PMC"} xref: PMID:34006325 {source="Europe PMC"} xref: PMID:34009030 {source="Europe PMC"} xref: Reaxys:3595485 {source="Reaxys"} xref: SNOMEDCT:326058001 xref: SNOMEDCT:395828009 xref: Wikipedia:Pioglitazone is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:50864 ! insulin-sensitizing drug property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H20N2O3S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H20N2O3S/c1-2-13-3-6-15(20-12-13)9-10-24-16-7-4-14(5-8-16)11-17-18(22)21-19(23)25-17/h3-8,12,17H,2,9-11H2,1H3,(H,21,22,23)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HYAFETHFCAUJAY-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "356.43978" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "356.11946" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCc1ccc(CCOc2ccc(CC3SC(=O)NC3=O)cc2)nc1" xsd:string [Term] id: CHEBI:82750 name: cholesteryl stearate namespace: chebi_ontology def: "A cholesterol ester obtained by the formal condensation of the hydroxy group in cholesterol with the carboxy group of stearic acid." [] subset: 3_STAR synonym: "(3beta)-cholest-5-en-3-yl octadecanoate" EXACT IUPAC_NAME [IUPAC] synonym: "18:0 Cholesteryl ester" RELATED [LIPID_MAPS] synonym: "3beta-octadecanoyloxycholest-5-ene" RELATED [NIST_Chemistry_WebBook] synonym: "CE(18:0)" RELATED [LIPID_MAPS] synonym: "Cholest-5-en-3-beta-yl octadecanoate" RELATED [SUBMITTER] synonym: "Cholest-5-en-3-beta-yl stearate" RELATED [ChemIDplus] synonym: "cholest-5-en-3beta-yl octadecanoate" RELATED [LIPID_MAPS] synonym: "cholest-5-en-3beta-yl stearate" RELATED [NIST_Chemistry_WebBook] synonym: "Cholesterol stearate" RELATED [ChemIDplus] synonym: "cholesterol stearate" RELATED [SUBMITTER] synonym: "Cholesteryl octadecanoate" RELATED [ChemIDplus] synonym: "cholesteryl octadecanoate" RELATED [UniProt] synonym: "Cholestryl stearate" RELATED [NIST_Chemistry_WebBook] xref: CAS:35602-69-8 {source="NIST Chemistry WebBook"} xref: CAS:35602-69-8 {source="ChemIDplus"} xref: LIPID_MAPS_instance:LMST01020007 {source="LIPID MAPS"} xref: Patent:NZ585870 xref: PMID:20957219 {source="Europe PMC"} xref: PMID:22687440 {source="Europe PMC"} xref: PMID:24151965 {source="Europe PMC"} xref: PMID:24853476 {source="Europe PMC"} xref: PMID:5762191 {source="Europe PMC"} xref: PMID:8077850 {source="Europe PMC"} xref: PMID:9020103 {source="SUBMITTER"} xref: Reaxys:2068492 {source="Reaxys"} is_a: CHEBI:17002 ! cholesteryl ester property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C45H80O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C45H80O2/c1-7-8-9-10-11-12-13-14-15-16-17-18-19-20-21-25-43(46)47-38-30-32-44(5)37(34-38)26-27-39-41-29-28-40(36(4)24-22-23-35(2)3)45(41,6)33-31-42(39)44/h26,35-36,38-42H,7-25,27-34H2,1-6H3/t36-,38+,39+,40-,41+,42+,44+,45-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XHRPOTDGOASDJS-XNTGVSEISA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "653.11550" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "652.61583" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCCCCCCCCCCCC(=O)O[C@H]1CC[C@]2(C)[C@H]3CC[C@]4(C)[C@H](CC[C@H]4[C@@H]3CC=C2C1)[C@H](C)CCCC(C)C" xsd:string [Term] id: CHEBI:82911 name: thymol sulfate namespace: chebi_ontology def: "An organic sulfate of thymol." [] subset: 3_STAR synonym: "5-methyl-2-(propan-2-yl)phenyl hydrogen sulfate" EXACT IUPAC_NAME [IUPAC] xref: PMID:11863281 {source="Europe PMC"} xref: PMID:12092740 {source="Europe PMC"} xref: PMID:22939267 {source="Europe PMC"} xref: Reaxys:3312332 {source="Reaxys"} is_a: CHEBI:24913 ! isoprenoid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H14O4S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H14O4S/c1-7(2)9-5-4-8(3)6-10(9)14-15(11,12)13/h4-7H,1-3H3,(H,11,12,13)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NODSEPOUFZPJEQ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "230.28100" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "230.06128" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)c1ccc(C)cc1OS(O)(=O)=O" xsd:string [Term] id: CHEBI:82912 name: N-(2-furoyl)glycine namespace: chebi_ontology def: "A glycine derivative that is the carboxamide obtained by the formal condensation of the amino group of glycine with 2-furoic acid." [] subset: 3_STAR synonym: "N-(furan-2-ylcarbonyl)glycine" EXACT IUPAC_NAME [IUPAC] xref: HMDB:HMDB0000439 xref: PMID:4630229 {source="Europe PMC"} is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H7NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H7NO4/c9-6(10)4-8-7(11)5-2-1-3-12-5/h1-3H,4H2,(H,8,11)(H,9,10)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KSPQDMRTZZYQLM-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "169.135" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "169.03751" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O1C=CC=C1C(NCC(O)=O)=O" xsd:string [Term] id: CHEBI:82913 name: 3-O-methyldopa namespace: chebi_ontology def: "A L-tyrosine derivative that is the 3-methoxy derivative of L-dopa." [] subset: 3_STAR synonym: "3-methoxy-L-tyrosine" EXACT IUPAC_NAME [IUPAC] synonym: "L-3-(4-hydroxy-3-methoxyphenyl)-alanine" RELATED [ChEBI] xref: CAS:300-48-1 {source="ChemIDplus"} xref: HMDB:HMDB0001434 xref: PDBeChem:3YM xref: PMID:23503547 {source="Europe PMC"} xref: PMID:24513538 {source="Europe PMC"} xref: Reaxys:2379987 {source="Reaxys"} xref: Wikipedia:3-O-Methyldopa is_a: CHEBI:33709 ! amino acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H13NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H13NO4/c1-15-9-5-6(2-3-8(9)12)4-7(11)10(13)14/h2-3,5,7,12H,4,11H2,1H3,(H,13,14)/t7-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PFDUUKDQEHURQC-ZETCQYMHSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "211.217" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "211.08446" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O=C(O)[C@@H](N)CC=1C=C(C(=CC1)O)OC" xsd:string [Term] id: CHEBI:82914 name: p-cresol sulfate namespace: chebi_ontology def: "An aryl sulfate that is p-cresol in which the phenolic hydrogen has been replaced by a sulfo group." [] subset: 3_STAR synonym: "4-cresol sulfate" RELATED [ChEBI] synonym: "4-methylphenyl hydrogen sulfate" EXACT IUPAC_NAME [IUPAC] synonym: "sulfuric acid mono-p-tolyl ester" RELATED [ChEBI] xref: HMDB:HMDB0011635 xref: PMID:10775436 {source="Europe PMC"} xref: PMID:18941347 {source="Europe PMC"} xref: PMID:21751871 {source="Europe PMC"} xref: PMID:24231664 {source="Europe PMC"} xref: PMID:25147155 {source="Europe PMC"} xref: Reaxys:2259968 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H8O4S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H8O4S/c1-6-2-4-7(5-3-6)11-12(8,9)10/h2-5H,1H3,(H,8,9,10)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WGNAKZGUSRVWRH-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "188.20100" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "188.01433" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cc1ccc(OS(O)(=O)=O)cc1" xsd:string [Term] id: CHEBI:82916 name: 3-(1H-indol-3-yl)propanoate namespace: chebi_ontology def: "A monocarboxylic acid anion that is the conjugate base of 3-(1H-indol-3-yl)propanoic acid." [] subset: 3_STAR synonym: "3-(1H-indol-3-yl)propanoate" EXACT IUPAC_NAME [IUPAC] synonym: "indole-3-propanoate" RELATED [UniProt] synonym: "indole-3-propionate" RELATED [ChEBI] synonym: "indolepropionate" RELATED [ChEBI] xref: Reaxys:3907068 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C11H10NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C11H11NO2/c13-11(14)6-5-8-7-12-10-4-2-1-3-9(8)10/h1-4,7,12H,5-6H2,(H,13,14)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GOLXRNDWAUTYKT-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "188.20310" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "188.07170" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-]C(=O)CCc1c[nH]c2ccccc12" xsd:string [Term] id: CHEBI:82927 name: 1-palmitoyl-2-linoleoyl-sn-glycerol namespace: chebi_ontology def: "A 1,2-diacyl-sn-glycerol in which the 1- and 2-acyl groups are specified as palmitoyl and linoleoyl respectively." [] subset: 3_STAR synonym: "(2S)-3-(hexadecanoyloxy)-1-hydroxypropan-2-yl (9Z,12Z)-octadeca-9,12-dienoate" EXACT IUPAC_NAME [IUPAC] synonym: "1-hexadecanoyl-2-(9Z,12Z-octadecadienoyl)-sn-glycerol" RELATED [UniProt] synonym: "1-hexadecanoyl-2-(9Z,12Z-octadecadienoyl)-sn-glycerol" RELATED [ChEBI] synonym: "DAG(16:0/18:2)" RELATED [HMDB] synonym: "DAG(16:0/18:2n6)" RELATED [HMDB] synonym: "DAG(16:0/18:2omega6)" RELATED [HMDB] synonym: "DAG(34:2)" RELATED [HMDB] synonym: "DG(16:0/18:2(9Z,12Z)/0:0)" RELATED [LIPID_MAPS] synonym: "DG(16:0/18:2)" RELATED [HMDB] synonym: "DG(16:0/18:2/0:0)" RELATED [LIPID_MAPS] synonym: "DG(16:0/18:2n6)" RELATED [HMDB] synonym: "DG(16:0/18:2omega6)" RELATED [HMDB] synonym: "DG(34:2)" RELATED [HMDB] synonym: "Diacylglycerol(16:0/18:2)" RELATED [HMDB] synonym: "Diacylglycerol(16:0/18:2n6)" RELATED [HMDB] synonym: "Diacylglycerol(16:0/18:2omega6)" RELATED [HMDB] synonym: "Diacylglycerol(34:2)" RELATED [HMDB] xref: HMDB:HMDB0007103 xref: LIPID_MAPS_instance:LMGL02010027 {source="LIPID MAPS"} xref: PMID:20231281 {source="SUBMITTER"} xref: Reaxys:8603526 {source="Reaxys"} is_a: CHEBI:18035 ! diglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C37H68O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C37H68O5/c1-3-5-7-9-11-13-15-17-18-20-22-24-26-28-30-32-37(40)42-35(33-38)34-41-36(39)31-29-27-25-23-21-19-16-14-12-10-8-6-4-2/h11,13,17-18,35,38H,3-10,12,14-16,19-34H2,1-2H3/b13-11-,18-17-/t35-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SVXWJFFKLMLOHO-YAIZGCQRSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "592.93280" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "592.50668" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCCCCCCCCCC(=O)OC[C@H](CO)OC(=O)CCCCCCC\\C=C/C\\C=C/CCCCC" xsd:string [Term] id: CHEBI:82931 name: 4-vinylphenol sulfate namespace: chebi_ontology def: "An aryl sulfate that is 4-hydroxystyrene in which the hydroxy group has been replaced by a sulfooxy group." [] subset: 3_STAR synonym: "4-ethenylphenyl hydrogen sulfate" EXACT IUPAC_NAME [IUPAC] xref: PMID:12478566 {source="Europe PMC"} xref: PMID:24014485 {source="Europe PMC"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H8O4S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H8O4S/c1-2-7-3-5-8(6-4-7)12-13(9,10)11/h2-6H,1H2,(H,9,10,11)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IETVQHUKTKKBFF-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "200.213" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "200.01433" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C=1(C=CC(OS(O)(=O)=O)=CC1)C=C" xsd:string [Term] id: CHEBI:82932 name: 4-ethylphenyl sulfate namespace: chebi_ontology def: "An aryl sulfate that is 4-ethylphenol in which the hydroxy group has been replaced by a sulfooxy group." [] subset: 3_STAR synonym: "4-ethylphenyl hydrogen sulfate" EXACT IUPAC_NAME [IUPAC] xref: PMID:20870466 {source="Europe PMC"} xref: PMID:22447217 {source="Europe PMC"} xref: PMID:24349936 {source="Europe PMC"} xref: Reaxys:2450312 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H10O4S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H10O4S/c1-2-7-3-5-8(6-4-7)12-13(9,10)11/h3-6H,2H2,1H3,(H,9,10,11)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DWZGLEPNCRFCEP-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "202.22800" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "202.02998" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCc1ccc(OS(O)(=O)=O)cc1" xsd:string [Term] id: CHEBI:82942 name: 4-(acetylamino)-3-hydroxyphenyl hydrogen sulfate namespace: chebi_ontology def: "An aryl sulfate that is the 3-hydroxy derivative of paracetamol sulfate." [] subset: 3_STAR synonym: "2-hydroxyacetaminophen sulfate" RELATED [ChEBI] synonym: "4-acetamido-3-hydroxyphenyl hydrogen sulfate" EXACT IUPAC_NAME [IUPAC] xref: PMID:4850385 {source="Europe PMC"} is_a: CHEBI:33853 ! phenols is_a: EFO:0004417 ! amide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H9NO6S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H9NO6S/c1-5(10)9-7-3-2-6(4-8(7)11)15-16(12,13)14/h2-4,11H,1H3,(H,9,10)(H,12,13,14)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HRLQZTOIKWEZBN-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "247.227" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "247.01506" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C=1(OS(O)(=O)=O)C=CC(=C(C1)O)NC(C)=O" xsd:string [Term] id: CHEBI:82957 name: 3-hydroxyisovalerate namespace: chebi_ontology def: "A hydroxy monocarboxylic acid anion that is the conjugate base of 3-hydroxyisovaleric acid." [] subset: 3_STAR synonym: "3-hydroxy-3-methylbutanoate" EXACT IUPAC_NAME [IUPAC] synonym: "3-hydroxy-3-methylbutyrate" RELATED [ChEBI] synonym: "beta-hydroxyisovalerate" RELATED [ChEBI] is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H9O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H10O3/c1-5(2,8)3-4(6)7/h8H,3H2,1-2H3,(H,6,7)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "AXFYFNCPONWUHW-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "117.12370" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "117.05572" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(C)(O)CC([O-])=O" xsd:string [Term] id: CHEBI:82965 name: gamma-Glu-Met namespace: chebi_ontology def: "A dipeptide composed of L-glutamic acid and L-methionine joined by a peptide linkage." [] subset: 3_STAR synonym: "L-gamma-glutamyl-L-methionine" EXACT IUPAC_NAME [IUPAC] xref: HMDB:HMDB0029155 xref: PMID:11754243 {source="Europe PMC"} xref: PMID:33656 {source="Europe PMC"} is_a: EFO:0004417 ! amide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H18N2O5S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H18N2O5S/c1-18-5-4-7(10(16)17)12-8(13)3-2-6(11)9(14)15/h6-7H,2-5,11H2,1H3,(H,12,13)(H,14,15)(H,16,17)/t6-,7-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RQNSKRXMANOPQY-BQBZGAKWSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "278.327" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "278.09364" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(=O)([C@@H](NC(=O)CC[C@@H](C(=O)O)N)CCSC)O" xsd:string [Term] id: CHEBI:82966 name: gamma-glutamylphenylalanine namespace: chebi_ontology def: "A dipeptide composed of glutamic acid and phenylalanine joined together by a peptide linkage." [] subset: 3_STAR synonym: "gamma-Glu-Phe" RELATED [ChEBI] synonym: "gamma-glutamylphenylalanine" EXACT IUPAC_NAME [IUPAC] xref: HMDB:HMDB0029156 xref: PMID:21886157 {source="Europe PMC"} is_a: EFO:0004417 ! amide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C14H18N2O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C14H18N2O5/c15-10(13(18)19)6-7-12(17)16-11(14(20)21)8-9-4-2-1-3-5-9/h1-5,10-11H,6-8,15H2,(H,16,17)(H,18,19)(H,20,21)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XHHOHZPNYFQJKL-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "294.30310" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "294.12157" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NC(CCC(=O)NC(Cc1ccccc1)C(O)=O)C(O)=O" xsd:string [Term] id: CHEBI:82968 name: gamma-glutamylthreonine namespace: chebi_ontology def: "A dipeptide composed of glutamic acid and threonine joined by a peptide linkage." [] subset: 3_STAR synonym: "gamma-Glu-Thr" RELATED [ChEBI] synonym: "gamma-glutamylthreonine" EXACT IUPAC_NAME [IUPAC] xref: HMDB:HMDB0029159 xref: Patent:US2009239808 xref: PMID:31308433 {source="Europe PMC"} is_a: EFO:0004417 ! amide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H16N2O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H16N2O6/c1-4(12)7(9(16)17)11-6(13)3-2-5(10)8(14)15/h4-5,7,12H,2-3,10H2,1H3,(H,11,13)(H,14,15)(H,16,17)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GWNXFCYUJXASDX-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "248.23310" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "248.10084" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(O)C(NC(=O)CCC(N)C(O)=O)C(O)=O" xsd:string [Term] id: CHEBI:82969 name: gamma-Glu-Tyr namespace: chebi_ontology def: "A dipeptide composed of L-glutamic acid and L-tyrosine joined by a peptide linkage." [] subset: 3_STAR synonym: "gamma-glutamyltyrosine" RELATED [ChEBI] synonym: "L-gamma-glutamyl-L-tyrosine" EXACT IUPAC_NAME [IUPAC] xref: HMDB:HMDB0011741 xref: PMID:1263081 {source="Europe PMC"} xref: PMID:24498130 {source="Europe PMC"} xref: PMID:7791632 {source="Europe PMC"} is_a: CHEBI:33853 ! phenols is_a: EFO:0004417 ! amide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C14H18N2O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C14H18N2O6/c15-10(13(19)20)5-6-12(18)16-11(14(21)22)7-8-1-3-9(17)4-2-8/h1-4,10-11,17H,5-7,15H2,(H,16,18)(H,19,20)(H,21,22)/t10-,11-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VVLXCWVSSLFQDS-QWRGUYRKSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "310.303" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "310.11649" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(=O)([C@@H](NC(=O)CC[C@@H](C(=O)O)N)CC=1C=CC(=CC1)O)O" xsd:string [Term] id: CHEBI:82982 name: glycodeoxycholate namespace: chebi_ontology def: "A N-acylglycinate that is the conjugate base of glycodeoxycholic acid." [] subset: 3_STAR synonym: "glycodeoxycholate" EXACT [UniProt] synonym: "{[(3alpha,5beta,12alpha)-3,12-dihydroxy-24-oxocholan-24-yl]amino}acetate" EXACT IUPAC_NAME [IUPAC] is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C26H42NO5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C26H43NO5/c1-15(4-9-23(30)27-14-24(31)32)19-7-8-20-18-6-5-16-12-17(28)10-11-25(16,2)21(18)13-22(29)26(19,20)3/h15-22,28-29H,4-14H2,1-3H3,(H,27,30)(H,31,32)/p-1/t15-,16-,17-,18+,19-,20+,21+,22+,25+,26-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WVULKSPCQVQLCU-BUXLTGKBSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "448.616" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "448.30685" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C1[C@@]2([C@]3(C[C@@H]([C@]4([C@]([C@@]3(CC[C@@]2(C[C@@H](C1)O)[H])[H])(CC[C@@]4([C@@H](CCC(NCC([O-])=O)=O)C)[H])[H])C)O)[H])C" xsd:string [Term] id: CHEBI:82986 name: 3-carboxy-4-methyl-5-propyl-2-furanpropanoate namespace: chebi_ontology def: "A dicarboxylic acid monoanion that is the conjugate base of 2-(2-carboxyethyl)-4-methyl-5-propylfuran-3-carboxylic acid." [] subset: 3_STAR synonym: "3-(3-carboxy-4-methyl-5-propylfuran-2-yl)propanoate" EXACT IUPAC_NAME [IUPAC] is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12H15O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C12H16O5/c1-3-4-8-7(2)11(12(15)16)9(17-8)5-6-10(13)14/h3-6H2,1-2H3,(H,13,14)(H,15,16)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WMCQWXZMVIETAO-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "239.24500" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "239.09250" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCc1oc(CCC([O-])=O)c(C(O)=O)c1C" xsd:string [Term] id: CHEBI:83036 name: 7alpha-hydroxy-3-oxo-4-cholestenoic acid namespace: chebi_ontology alt_id: CHEBI:81016 def: "A cholestanoid that is cholest-4-en-26-oic acid substituted by an alpha-hydroxy group at position 7 and an oxo group at position 3. It is an intermediate metabolite in the bile acid synthesis." [] subset: 3_STAR synonym: "7-Hoca" RELATED [ChemIDplus] synonym: "7alpha-hydroxy-3-oxocholest-4-en-26-oic acid" EXACT IUPAC_NAME [IUPAC] xref: CAS:115538-85-7 {source="ChemIDplus"} xref: HMDB:HMDB0012458 xref: PMID:17251592 {source="Europe PMC"} xref: PMID:19996111 {source="Europe PMC"} xref: PMID:8662693 {source="Europe PMC"} xref: Reaxys:6349859 {source="Reaxys"} is_a: CHEBI:35341 ! steroid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C27H42O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C27H42O4/c1-16(6-5-7-17(2)25(30)31)20-8-9-21-24-22(11-13-27(20,21)4)26(3)12-10-19(28)14-18(26)15-23(24)29/h14,16-17,20-24,29H,5-13,15H2,1-4H3,(H,30,31)/t16-,17?,20-,21+,22+,23-,24+,26+,27-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SATGKQGFUDXGAX-MYWFJNCASA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "430.621" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "430.30831" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C1[C@@]2([C@]3(CC[C@]4([C@]([C@@]3([C@@H](CC2=CC(C1)=O)O)[H])(CC[C@@]4([C@H](C)CCCC(C)C(O)=O)[H])[H])C)[H])C" xsd:string [Term] id: CHEBI:83037 name: androsterone sulfate namespace: chebi_ontology def: "A steroid sulfate that is the 3-sulfate of androsterone." [] subset: 3_STAR synonym: "(5alpha)-17-oxoandrostan-3alpha-yl hydrogen sulfate" EXACT IUPAC_NAME [IUPAC] synonym: "3alpha-hydroxy-5alpha-androstan-17-one 3-sulfate" RELATED [LIPID_MAPS] synonym: "5alpha-androstane-3alpha-ol-17-one sulfate" RELATED [LIPID_MAPS] xref: CAS:2479-86-9 {source="ChemIDplus"} xref: HMDB:HMDB0002759 xref: LIPID_MAPS_instance:LMST05020001 {source="LIPID MAPS"} xref: PMID:1254687 {source="Europe PMC"} xref: PMID:13916108 {source="Europe PMC"} xref: PMID:23320515 {source="Europe PMC"} xref: PMID:24121067 {source="Europe PMC"} xref: PMID:743633 {source="Europe PMC"} xref: PMID:8380602 {source="Europe PMC"} xref: PMID:8987136 {source="Europe PMC"} xref: Reaxys:2225704 {source="Reaxys"} is_a: CHEBI:35341 ! steroid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H30O5S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H30O5S/c1-18-9-7-13(24-25(21,22)23)11-12(18)3-4-14-15-5-6-17(20)19(15,2)10-8-16(14)18/h12-16H,3-11H2,1-2H3,(H,21,22,23)/t12-,13+,14-,15-,16-,18-,19-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ZMITXKRGXGRMKS-HLUDHZFRSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "370.505" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "370.18140" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C1[C@@]2([C@@]([C@@]3([C@](C[C@H](OS(O)(=O)=O)CC3)(C1)[H])C)(CC[C@@]4(C(CC[C@@]24[H])=O)C)[H])[H]" xsd:string [Term] id: CHEBI:83040 name: epiandrosterone sulfate namespace: chebi_ontology def: "A steroid sulfate that is the 3-sulfate of epiandrosterone." [] subset: 3_STAR synonym: "(3beta,5alpha)-17-oxoandrostan-3-yl hydrogen sulfate" RELATED [IUPAC] synonym: "17-oxo-5alpha-androstan-3beta-yl hydrogen sulfate" EXACT IUPAC_NAME [IUPAC] xref: PMID:11711114 {source="Europe PMC"} xref: PMID:1926228 {source="Europe PMC"} xref: PMID:2171821 {source="Europe PMC"} xref: PMID:8987136 {source="Europe PMC"} xref: Reaxys:2225705 {source="Reaxys"} is_a: CHEBI:35341 ! steroid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H30O5S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H30O5S/c1-18-9-7-13(24-25(21,22)23)11-12(18)3-4-14-15-5-6-17(20)19(15,2)10-8-16(14)18/h12-16H,3-11H2,1-2H3,(H,21,22,23)/t12-,13-,14-,15-,16-,18-,19-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ZMITXKRGXGRMKS-LUJOEAJASA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "370.505" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "370.18140" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C1[C@@]2([C@@]([C@@]3([C@](C[C@@H](OS(O)(=O)=O)CC3)(C1)[H])C)(CC[C@@]4(C(CC[C@@]24[H])=O)C)[H])[H]" xsd:string [Term] id: CHEBI:83041 name: 10-undecenoate namespace: chebi_ontology def: "An undecenoate that is the conjugate base of 10-undecenoic acid." [] subset: 3_STAR synonym: "(11:1n1)" RELATED [ChEBI] synonym: "undec-10-enoate" EXACT IUPAC_NAME [IUPAC] is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C11H19O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C11H20O2/c1-2-3-4-5-6-7-8-9-10-11(12)13/h2H,1,3-10H2,(H,12,13)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "FRPZMMHWLSIFAZ-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "183.26790" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "183.13905" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[O-]C(=O)CCCCCCCCC=C" xsd:string [Term] id: CHEBI:83046 name: 5-dodecenoate namespace: chebi_ontology def: "A dodecenoate that is the conjugate base of 5-dodecenoic acid." [] subset: 3_STAR synonym: "dodec-5-enoate" EXACT IUPAC_NAME [IUPAC] is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C12H21O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C12H22O2/c1-2-3-4-5-6-7-8-9-10-11-12(13)14/h7-8H,2-6,9-11H2,1H3,(H,13,14)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IJBFSOLHRKELLR-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "197.29450" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "197.15470" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCC=CCCCC([O-])=O" xsd:string [Term] id: CHEBI:83047 name: 1-stearoyl-sn-glycero-3-phosphoethanolamine namespace: chebi_ontology def: "A 1-acyl-sn-glycero-3-phosphoethanolamine in which the acyl group is specified as stearoyl." [] subset: 3_STAR synonym: "(2R)-3-{[(2-aminoethoxy)(hydroxy)phosphoryl]oxy}-2-hydroxypropyl octadecanoate" EXACT IUPAC_NAME [IUPAC] synonym: "1-octadecanoyl-sn-glycero-3-phosphoethanolamine" RELATED [LIPID_MAPS] synonym: "1-stearoyl-sn-lysophosphatidylethanolamine" RELATED [ChEBI] synonym: "LPE(18:0/0:0)" RELATED [HMDB] synonym: "PE(18:0/0:0)" RELATED [ChEBI] synonym: "Stearoyl phosphatidylethanolamine" RELATED [HMDB] xref: HMDB:HMDB0011130 xref: LIPID_MAPS_instance:LMGP02050001 {source="LIPID MAPS"} xref: Reaxys:5831125 {source="Reaxys"} is_a: CHEBI:64576 ! lysophosphatidylethanolamine 18:0 property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C23H48NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C23H48NO7P/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-23(26)29-20-22(25)21-31-32(27,28)30-19-18-24/h22,25H,2-21,24H2,1H3,(H,27,28)/t22-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BBYWOYAFBUOUFP-JOCHJYFZSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "481.60350" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "481.31684" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCCCCCCCCCCCC(=O)OC[C@@H](O)COP(O)(=O)OCCN" xsd:string [Term] id: CHEBI:83052 name: 10-nonadecenoate namespace: chebi_ontology def: "A monounsaturated fatty acid anion that is the conjugate base of 10-nonadecenoic acid." [] subset: 3_STAR synonym: "nonadec-10-enoate" RELATED [ChEBI] is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H35O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H36O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-18-19(20)21/h9-10H,2-8,11-18H2,1H3,(H,20,21)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BBOWBNGUEWHNQZ-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "295.48050" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "295.26425" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCCC=CCCCCCCCCC([O-])=O" xsd:string [Term] id: CHEBI:83058 name: 1-linoleoyl-sn-glycero-3-phosphoethanolamine namespace: chebi_ontology alt_id: CHEBI:183856 def: "A 1-acyl-sn-glycero-3-phosphoethanolamine in which the acyl group is specified as linoleoyl." [] subset: 3_STAR synonym: "(2R)-3-[[(2-aminoethoxy)hydroxyphosphinyl]oxy]-2-hydroxypropyl (9Z,12Z)-9,12-octadecadienoate" RELATED [ChEBI] synonym: "(2R)-3-{[(2-aminoethoxy)(hydroxy)phosphoryl]oxy}-2-hydroxypropyl (9Z,12Z)-octadeca-9,12-dienoate" EXACT IUPAC_NAME [IUPAC] synonym: "(9Z,12Z-octadecadienoyl)-lysophosphatidylethanolamine" RELATED [HMDB] synonym: "1-(9Z,12Z-octadecadienoyl)-2-hydroxy-sn-glycero-3-phosphoethanolamine" RELATED [ChEBI] synonym: "1-(9Z,12Z-octadecadienoyl)-glycero-3-phosphoethanolamine" RELATED [LIPID_MAPS] synonym: "1-Linoleoyl-2-hydroxy-sn-glycero-3-phosphoethanolamine" RELATED [HMDB] synonym: "1-linoleoyl-GPE" RELATED [ChEBI] synonym: "1-linoleoyl-GPE (18:2)" RELATED [ChEBI] synonym: "LPE(18:2(9Z,12Z)/0:0)" RELATED [LIPID_MAPS] synonym: "Lyso-PE(18:2n6/0:0)" RELATED [HMDB] synonym: "LysoPE(18:2(9Z,12Z)/0:0)" RELATED [HMDB] synonym: "LysoPE(18:2w6/0:0)" RELATED [HMDB] synonym: "lysophosphatidylethanolamine (18:2(9Z,12Z))" RELATED [ChEBI] synonym: "PE(18:2(9Z,12Z))" RELATED [ChEBI] synonym: "PE(18:2(9Z,12Z)/0:0)" RELATED [LIPID_MAPS] xref: CAS:85046-18-0 {source="ChEBI"} xref: HMDB:HMDB0011507 xref: LIPID_MAPS_instance:LMGP02050011 {source="LIPID MAPS"} xref: PMID:30366209 {source="Europe PMC"} is_a: CHEBI:91296 ! lysophosphatidylethanolamine 18:2 property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C23H44NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C23H44NO7P/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-23(26)29-20-22(25)21-31-32(27,28)30-19-18-24/h6-7,9-10,22,25H,2-5,8,11-21,24H2,1H3,(H,27,28)/b7-6-,10-9-/t22-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DBHKHNGBVGWQJE-USWSLJGRSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "477.579" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "477.28554" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCC\\C=C/C\\C=C/CCCCCCCC(=O)OC[C@@H](O)COP(O)(=O)OCCN" xsd:string [Term] id: CHEBI:83501 name: acesulfame namespace: chebi_ontology def: "A sulfamate ester that is 1,2,3-oxathiazin-4(3H)-one 2,2-dioxide substituted by a methyl group at position 6." [] subset: 3_STAR synonym: "6-methyl-1,2,3-oxathiazin-4(3H)-one 2,2-dioxide" EXACT IUPAC_NAME [IUPAC] synonym: "acesulfamo" RELATED INN [ChemIDplus] synonym: "acesulfamum" RELATED INN [ChemIDplus] xref: CAS:33665-90-6 {source="ChemIDplus"} xref: HMDB:HMDB0033585 xref: PMID:25046375 {source="Europe PMC"} xref: PMID:25085815 {source="Europe PMC"} xref: Reaxys:510659 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H5NO4S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H5NO4S/c1-3-2-4(6)5-10(7,8)9-3/h2H,1H3,(H,5,6)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "YGCFIWIQZPHFLU-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "163.15200" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "162.99393" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC1=CC(=O)NS(=O)(=O)O1" xsd:string [Term] id: CHEBI:8364 name: prazosin namespace: chebi_ontology def: "A member of the class of piperazines that is piperazine substituted by a furan-2-ylcarbonyl group and a 4-amino-6,7-dimethoxyquinazolin-2-yl group at positions 1 and 4 respectively." [] subset: 3_STAR synonym: "1-(4-Amino-6,7-dimethoxy-2-quinazolinyl)-4-(2-furanylcarbonyl)piperazine" RELATED [ChemIDplus] synonym: "2-(4-(2-Furoyl)piperazin-1-yl)-4-amino-6,7-dimethoxyquinazoline" RELATED [ChemIDplus] synonym: "2-[4-(2-furoyl)piperazin-1-yl]-6,7-dimethoxyquinazolin-4-amine" EXACT IUPAC_NAME [IUPAC] synonym: "prazosin" RELATED INN [WHO_MedNet] synonym: "prazosina" RELATED INN [WHO_MedNet] synonym: "prazosine" RELATED INN [WHO_MedNet] synonym: "prazosinum" RELATED INN [WHO_MedNet] xref: Beilstein:768345 {source="Beilstein"} xref: CAS:19216-56-9 {source="KEGG COMPOUND"} xref: CAS:19216-56-9 {source="ChemIDplus"} xref: Drug_Central:4209 {source="DrugCentral"} xref: DrugBank:DB00457 xref: HMDB:HMDB0014600 xref: KEGG:C07368 xref: KEGG:D08411 xref: LINCS:LSM-3079 xref: Patent:GB1156973 xref: Patent:NL7206067 xref: Patent:US3511836 xref: PMID:20825390 {source="Europe PMC"} xref: Reaxys:768345 {source="Reaxys"} xref: Wikipedia:Prazosin is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H21N5O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H21N5O4/c1-26-15-10-12-13(11-16(15)27-2)21-19(22-17(12)20)24-7-5-23(6-8-24)18(25)14-4-3-9-28-14/h3-4,9-11H,5-8H2,1-2H3,(H2,20,21,22)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IENZQIKPVFGBNW-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "383.40110" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "383.15935" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "COc1cc2nc(nc(N)c2cc1OC)N1CCN(CC1)C(=O)c1ccco1" xsd:string [Term] id: CHEBI:8378 name: prednisolone namespace: chebi_ontology def: "A glucocorticoid that is prednisone in which the oxo group at position 11 has been reduced to the corresponding beta-hydroxy group. It is a drug metabolite of prednisone." [] subset: 3_STAR synonym: "(11beta)-11,17,21-trihydroxypregna-1,4-diene-3,20-dione" RELATED [ChEBI] synonym: "1,4-pregnadiene-11beta,17alpha,21-triol-3,20-dione" RELATED [ChemIDplus] synonym: "1,4-pregnadiene-3,20-dione-11beta,17alpha,21-triol" RELATED [ChemIDplus] synonym: "11beta,17,21-trihydroxypregna-1,4-diene-3,20-dione" EXACT IUPAC_NAME [IUPAC] synonym: "3,20-dioxo-11beta,17alpha,21-trihydroxy-1,4-pregnadiene" RELATED [ChemIDplus] synonym: "Delta(1)-dehydrocortisol" RELATED [ChemIDplus] synonym: "Delta(1)-dehydrohydrocortisone" RELATED [ChemIDplus] synonym: "Delta(1)-hydrocortisone" RELATED [ChemIDplus] synonym: "hydroretrocortine" RELATED [ChemIDplus] synonym: "metacortandralone" RELATED [ChemIDplus] synonym: "prednisolona" RELATED INN [ChemIDplus] synonym: "prednisolone" RELATED INN [WHO_MedNet] synonym: "prednisolone" RELATED INN [ChemIDplus] synonym: "prednisolonum" RELATED INN [ChemIDplus] xref: Beilstein:1354103 {source="ChemIDplus"} xref: CAS:50-24-8 {source="ChemIDplus"} xref: CAS:50-24-8 {source="KEGG COMPOUND"} xref: Drug_Central:2245 {source="DrugCentral"} xref: DrugBank:DB00860 xref: HMDB:HMDB0014998 xref: KEGG:C07369 xref: KEGG:D00472 xref: MeSH:D011239 xref: NCIt:C769 xref: PMID:11294518 {source="Europe PMC"} xref: PMID:23625982 {source="Europe PMC"} xref: PMID:24392764 {source="Europe PMC"} xref: Reaxys:1354103 {source="Reaxys"} xref: SNOMEDCT:116601002 xref: VSDB:1848 xref: Wikipedia:Prednisolone is_a: CHEBI:26764 ! steroid hormone relationship: has_role EFO:0001824 ! hormone role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C21H28O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C21H28O5/c1-19-7-5-13(23)9-12(19)3-4-14-15-6-8-21(26,17(25)11-22)20(15,2)10-16(24)18(14)19/h5,7,9,14-16,18,22,24,26H,3-4,6,8,10-11H2,1-2H3/t14-,15-,16-,18+,19-,20-,21-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OIGNJSKKLXVSLS-VWUMJDOOSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "360.44400" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "360.19367" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12CCC3=CC(=O)C=C[C@]3(C)[C@@]1([H])[C@@H](O)C[C@@]1(C)[C@@]2([H])CC[C@]1(O)C(=O)CO" xsd:string [Term] id: CHEBI:84056 name: N-acetylisoleucine namespace: chebi_ontology def: "An isoleucine derivative that is the N-acetyl derivative of isoleucine." [] subset: 3_STAR synonym: "DL-acetylalloisoleucine" RELATED [ChEBI] synonym: "N-acetyl-DL-isoleucine" RELATED [ChEBI] synonym: "N-acetylisoleucine" EXACT IUPAC_NAME [IUPAC] xref: PMID:3473611 {source="Europe PMC"} xref: Reaxys:2249494 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H15NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H15NO3/c1-4-5(2)7(8(11)12)9-6(3)10/h5,7H,4H2,1-3H3,(H,9,10)(H,11,12)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JDTWZSUNGHMMJM-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "173.20960" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "173.10519" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCC(C)C(NC(C)=O)C(O)=O" xsd:string [Term] id: CHEBI:84098 name: O-linoleyl-L-carnitine namespace: chebi_ontology def: "An O-octadecadienoyl-L-carnitine where the acyl group specified is linoleyl." [] subset: 3_STAR synonym: "(3R)-3-[(9Z,12Z)-octadeca-9,12-dienoyloxy]-4-(trimethylammonio)butanoate" EXACT IUPAC_NAME [IUPAC] synonym: "Decadienylcarnitine" RELATED [HMDB] synonym: "Octadecadienyl-L-carnitine" RELATED [HMDB] xref: CAS:36816-10-1 {source="ChemIDplus"} xref: HMDB:HMDB0006469 xref: PMID:22806411 {source="Europe PMC"} xref: Reaxys:4007077 {source="Reaxys"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C25H45NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C25H45NO4/c1-5-6-7-8-9-10-11-12-13-14-15-16-17-18-19-20-25(29)30-23(21-24(27)28)22-26(2,3)4/h9-10,12-13,23H,5-8,11,14-22H2,1-4H3/b10-9-,13-12-/t23-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "MJLXQSQYKZWZCB-DQFWFXSYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "423.62910" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "423.33486" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCC\\C=C/C\\C=C/CCCCCCCC(=O)O[C@H](CC([O-])=O)C[N+](C)(C)C" xsd:string [Term] id: CHEBI:8435 name: prochlorperazine namespace: chebi_ontology alt_id: CHEBI:59073 def: "A member of the class of phenothiazines that is 10H-phenothiazine having a chloro substituent at the 2-position and a 3-(4-methylpiperazin-1-yl)propyl group at the N-10 position." [] subset: 3_STAR synonym: "2-Chloro-10-(3-(1-methyl-4-piperazinyl)propyl)-phenothiazine" RELATED [ChemIDplus] synonym: "2-Chloro-10-(3-(4-methyl-1-piperazinyl)propyl)phenothiazine" RELATED [ChemIDplus] synonym: "2-chloro-10-[3-(4-methylpiperazin-1-yl)propyl]-10H-phenothiazine" EXACT IUPAC_NAME [IUPAC] synonym: "3-Chloro-10-(3-(1-methyl-4-piperazinyl)propyl)phenothiazine" RELATED [ChemIDplus] synonym: "3-Chloro-10-(3-(4-methyl-1-piperazinyl)propyl)phenothiazine" RELATED [ChemIDplus] synonym: "Chloro-3 (N-methylpiperazinyl-3 propyl)-10 phenothiazine" RELATED [ChemIDplus] synonym: "N-(gamma-(4'-Methylpiperazinyl-1')propyl)-3-chlorophenothiazine" RELATED [ChemIDplus] synonym: "Prochlorperazin" RELATED [ChemIDplus] synonym: "Prochlorperazine" EXACT [KEGG_COMPOUND] synonym: "prochlorperazine" RELATED INN [ChEBI] synonym: "prochlorperazinum" RELATED INN [ChEBI] synonym: "Prochlorpermazine" RELATED [ChemIDplus] synonym: "Prochlorpromazine" RELATED [ChemIDplus] synonym: "Procloperazine" RELATED [ChemIDplus] synonym: "proclorperazina" RELATED INN [ChEBI] xref: Beilstein:48537 {source="Beilstein"} xref: CAS:58-38-8 {source="ChemIDplus"} xref: CAS:58-38-8 {source="NIST Chemistry WebBook"} xref: ChEMBL:137266 xref: ChemIDplus:58-38-8 xref: CiteXplore:1650428 xref: Drug_Central:2274 {source="DrugCentral"} xref: DrugBank:DB00433 xref: HMDB:HMDB0014577 xref: KEGG COMPOUND:C07403 xref: KEGG DRUG:D00493 xref: KEGG:C07403 xref: KEGG:D00493 xref: LINCS:LSM-2436 xref: MeSH:D011346 xref: NCIt:C774 xref: Patent:FR1167627 xref: Patent:GB780193 xref: Patent:US2902484 xref: PMID:13808146 {source="Europe PMC"} xref: PMID:1650428 {source="Europe PMC"} xref: PMID:20825390 {source="Europe PMC"} xref: PMID:4891872 {source="Europe PMC"} xref: Reaxys:48537 {source="Reaxys"} xref: SNOMEDCT:372853006 xref: SNOMEDCT:79129001 xref: Wikipedia:Prochlorperazine is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H24ClN3S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H24ClN3S/c1-22-11-13-23(14-12-22)9-4-10-24-17-5-2-3-6-19(17)25-20-8-7-16(21)15-18(20)24/h2-3,5-8,15H,4,9-14H2,1H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WIKYUJGCLQQFNW-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "373.94300" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "373.13795" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN1CCN(CCCN2c3ccccc3Sc3ccc(Cl)cc23)CC1" xsd:string [Term] id: CHEBI:84415 name: acetyltaurine namespace: chebi_ontology def: "An amino sulfonic acid that is taurine substituted by an acetyl group at the N atom." [] subset: 3_STAR synonym: "2-(acetylamino)ethanesulfonic acid" EXACT IUPAC_NAME [IUPAC] synonym: "2-acetamidoethanesulfonic acid" RELATED [ChEBI] synonym: "N-Acetyltaurine" RELATED [ChemIDplus] xref: CAS:19213-70-8 {source="ChemIDplus"} xref: PMID:22228769 {source="Europe PMC"} xref: PMID:25833487 {source="Europe PMC"} xref: PMID:27520321 {source="Europe PMC"} xref: Reaxys:1771406 {source="Reaxys"} is_a: EFO:0004417 ! amide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H9NO4S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H9NO4S/c1-4(6)5-2-3-10(7,8)9/h2-3H2,1H3,(H,5,6)(H,7,8,9)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CXJAAWRLVGAKDV-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "167.185" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "167.02523" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(CS(O)(=O)=O)NC(C)=O" xsd:string [Term] id: CHEBI:84567 name: 1-palmitoleoyl-2-linoleoyl-sn-glycero-3-phosphocholine namespace: chebi_ontology def: "A phosphatidylcholine 34:3 in which the acyl groups specified at positions 1 and 2 are palmitoleoyl and linoleoyl respectively." [] subset: 3_STAR synonym: "(2R)-3-[(9Z)-hexadec-9-enoyloxy]-2-[(9Z,12Z)-octadeca-9,12-dienoyloxy]propyl 2-(trimethylammonio)ethyl phosphate" EXACT IUPAC_NAME [IUPAC] synonym: "1-(9Z-hexadecenoyl)-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine" RELATED [ChEBI] synonym: "GPCho(16:1/18:2)" RELATED [HMDB] synonym: "GPCho(16:1n7/18:2n6)" RELATED [HMDB] synonym: "GPCho(16:1w7/18:2w6)" RELATED [HMDB] synonym: "PC(16:1(9Z)/18:2(9Z,12Z))" RELATED [LIPID_MAPS] synonym: "PC(16:1/18:2)" RELATED [LIPID_MAPS] synonym: "PC(16:1n7/18:2n6)" RELATED [HMDB] synonym: "PC(16:1w7/18:2w6)" RELATED [HMDB] synonym: "Phosphatidylcholine(16:1/18:2)" RELATED [HMDB] synonym: "Phosphatidylcholine(16:1n7/18:2n6)" RELATED [HMDB] synonym: "Phosphatidylcholine(16:1w7/18:2w6)" RELATED [HMDB] xref: HMDB:HMDB0008006 xref: LIPID_MAPS_instance:LMGP01010690 {source="LIPID MAPS"} is_a: CHEBI:64424 ! phosphatidylcholine 34:3 property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C42H78NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C42H78NO8P/c1-6-8-10-12-14-16-18-20-21-23-25-27-29-31-33-35-42(45)51-40(39-50-52(46,47)49-37-36-43(3,4)5)38-48-41(44)34-32-30-28-26-24-22-19-17-15-13-11-9-7-2/h14,16-17,19-21,40H,6-13,15,18,22-39H2,1-5H3/b16-14-,19-17-,21-20-/t40-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QJWDAOSZZYVBJZ-KXESGEQTSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "756.04440" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "755.54651" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCC\\C=C/CCCCCCCC(=O)OC[C@H](COP([O-])(=O)OCC[N+](C)(C)C)OC(=O)CCCCCCC\\C=C/C\\C=C/CCCCC" xsd:string [Term] id: CHEBI:84573 name: 1-hexadecanoyl-2-[(7Z,10Z,13Z,16Z)-docosatetraenoyl]-sn-glycero-3-phosphocholine namespace: chebi_ontology alt_id: CHEBI:86179 def: "A phosphatidylcholine 38:4 in which the acyl groups at positions 1 and 2 are hexadecanoyl and (7Z,10Z,13Z,16Z)-docosatetraenoyl respectively." [] subset: 3_STAR synonym: "(2R)-2-[(7Z,10Z,13Z,16Z)-docosa-7,10,13,16-tetraenoyloxy]-3-(hexadecanoyloxy)propyl 2-(trimethylammonio)ethyl phosphate" EXACT IUPAC_NAME [IUPAC] synonym: "(2R)-2-{[(7Z,10Z,13Z,16Z)-docosa-7,10,13,16-tetraenoyl]oxy}-3-(hexadecanoyloxy)propyl 2-(trimethylazaniumyl)ethyl phosphate" EXACT IUPAC_NAME [IUPAC] synonym: "1-hexadecanoyl-2-(7Z,10Z,13Z,16Z-docosatetraenoyl)-sn-glycero-3-phosphocholine" RELATED [ChEBI] synonym: "1-Palmitoyl-2-adrenoyl-sn-glycero-3-phosphocholine" RELATED [HMDB] synonym: "GPCho(16:0/22:4)" RELATED [HMDB] synonym: "GPCho(16:0/22:4n6)" RELATED [HMDB] synonym: "GPCho(16:0/22:4w6)" RELATED [HMDB] synonym: "PC(16:0/22:4(7Z,10Z,13Z,16Z))" RELATED [LIPID_MAPS] synonym: "PC(16:0/22:4)" RELATED [HMDB] synonym: "PC(16:0/22:4)" RELATED [LIPID_MAPS] synonym: "PC(16:0/22:4n6)" RELATED [HMDB] synonym: "PC(16:0/22:4w6)" RELATED [HMDB] synonym: "Phosphatidylcholine(16:0/22:4)" RELATED [HMDB] synonym: "Phosphatidylcholine(16:0/22:4n6)" RELATED [HMDB] synonym: "Phosphatidylcholine(16:0/22:4w6)" RELATED [HMDB] xref: HMDB:HMDB0007988 xref: LIPID_MAPS_instance:LMGP01010642 {source="LIPID MAPS"} is_a: CHEBI:64526 ! phosphatidylcholine 38:4 property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C46H84NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C46H84NO8P/c1-6-8-10-12-14-16-18-20-21-22-23-24-25-27-29-31-33-35-37-39-46(49)55-44(43-54-56(50,51)53-41-40-47(3,4)5)42-52-45(48)38-36-34-32-30-28-26-19-17-15-13-11-9-7-2/h14,16,20-21,23-24,27,29,44H,6-13,15,17-19,22,25-26,28,30-43H2,1-5H3/b16-14-,21-20-,24-23-,29-27-/t44-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IRWRFKUTKSUFST-MDYGELLQSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "810.13480" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "809.59346" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCCCCCCCCCC(=O)OC[C@H](COP([O-])(=O)OCC[N+](C)(C)C)OC(=O)CCCCC\\C=C/C\\C=C/C\\C=C/C\\C=C/CCCCC" xsd:string [Term] id: CHEBI:8461 name: promethazine namespace: chebi_ontology def: "A tertiary amine that is a substituted phenothiazine in which the ring nitrogen at position 10 is attached to C-3 of an N,N-dimethylpropan-2-amine moiety." [] subset: 3_STAR synonym: "(2-dimethylamino-2-methyl)ethyl-N-dibenzoparathiazine" RELATED [ChemIDplus] synonym: "10-(2-Dimethylaminopropyl)phenothiazine" RELATED [KEGG_COMPOUND] synonym: "10-[2-(dimethylamino)propyl]phenothiazine" RELATED [NIST_Chemistry_WebBook] synonym: "N,N,alpha-trimethyl-10H-phenothiazine-10-ethanamine" RELATED [NIST_Chemistry_WebBook] synonym: "N,N-dimethyl-1-(10H-phenothiazin-10-yl)propan-2-amine" EXACT IUPAC_NAME [IUPAC] synonym: "N-(2'-dimethylamino-2'-methyl)ethylphenothiazine" RELATED [ChemIDplus] synonym: "proazamine" RELATED [ChemIDplus] synonym: "prometazina" RELATED INN [ChEBI] synonym: "Promethazine" EXACT [KEGG_COMPOUND] synonym: "promethazine" RELATED INN [ChEBI] synonym: "promethazinum" RELATED INN [ChEBI] xref: Beilstein:88554 {source="Beilstein"} xref: CAS:60-87-7 {source="KEGG COMPOUND"} xref: CAS:60-87-7 {source="NIST Chemistry WebBook"} xref: CAS:60-87-7 {source="ChemIDplus"} xref: Drug_Central:2286 {source="DrugCentral"} xref: DrugBank:DB01069 xref: Gmelin:337077 {source="Gmelin"} xref: HMDB:HMDB0015202 xref: KEGG:C07404 xref: KEGG:D00494 xref: LINCS:LSM-4440 xref: Patent:US2530451 xref: Patent:US2607773 xref: Reaxys:88554 {source="Reaxys"} xref: Wikipedia:Promethazine is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C17H20N2S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C17H20N2S/c1-13(18(2)3)12-19-14-8-4-6-10-16(14)20-17-11-7-5-9-15(17)19/h4-11,13H,12H2,1-3H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PWWVAXIEGOYWEE-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "284.42018" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "284.13472" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(CN1c2ccccc2Sc2ccccc12)N(C)C" xsd:string [Term] id: CHEBI:84634 name: O-tetradecanoyl-L-carnitine namespace: chebi_ontology def: "An O-acyl-L-carnitine in which the acyl group is specified as myristoyl (tetradecanoyl)." [] subset: 3_STAR synonym: "(-)-Myristoylcarnitine" RELATED [HMDB] synonym: "(-)-Tetradecanoylcarnitine" RELATED [HMDB] synonym: "(3R)-3-(tetradecanoyloxy)-4-(trimethylazaniumyl)butanoate" EXACT IUPAC_NAME [IUPAC] synonym: "(R)-myristoylcarnitine" RELATED [ChEBI] synonym: "(R)-Tetradecanoylcarnitine" RELATED [HMDB] synonym: "L-Myristoylcarnitine" RELATED [HMDB] synonym: "Myristoyl-L-(-)-carnitine" RELATED [HMDB] synonym: "myristoyl-L-carnitine" RELATED [ChEBI] synonym: "Myristoylcarnitine" RELATED [HMDB] synonym: "O-tetradecanoyl-(R)-carnitine" RELATED [UniProt] synonym: "tetradecanoyl-L-carnitine" RELATED [ChEBI] xref: HMDB:HMDB0005066 xref: PMID:20538056 {source="SUBMITTER"} xref: Reaxys:4149853 {source="Reaxys"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C21H41NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C21H41NO4/c1-5-6-7-8-9-10-11-12-13-14-15-16-21(25)26-19(17-20(23)24)18-22(2,3)4/h19H,5-18H2,1-4H3/t19-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PSHXNVGSVNEJBD-LJQANCHMSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "371.55450" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "371.30356" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCCCCCCCC(=O)O[C@H](CC([O-])=O)C[N+](C)(C)C" xsd:string [Term] id: CHEBI:84647 name: O-[(9Z)-tetradecenoyl]-L-carnitine namespace: chebi_ontology def: "An O-tetradecenoyl-L-carnitine in which the acyl group is specified as myristoleoyl." [] subset: 3_STAR synonym: "(3R)-3-{[(9Z)-tetradec-9-enoyl]oxy}-4-(trimethylazaniumyl)butanoate" EXACT IUPAC_NAME [IUPAC] synonym: "(9Z)-tetradecenoyl-L-carnitine" RELATED [ChEBI] synonym: "(9Z)-tetradecenoylcarnitine" RELATED [ChEBI] synonym: "(R)-[(9Z)-tetradecenoyl]-L-carnitine" RELATED [ChEBI] synonym: "(R)-[(Z)-myristoleoyl]-L-carnitine" RELATED [ChEBI] synonym: "(Z)-myristoleoyl-L-carnitine" RELATED [ChEBI] synonym: "(Z)-myristoleoylcarnitine" RELATED [ChEBI] synonym: "O-(9Z)-tetradecenoyl-(R)-carnitine" RELATED [UniProt] synonym: "O-[(Z)-myristoleoyl]-L-carnitine" RELATED [ChEBI] xref: PMID:20538056 {source="SUBMITTER"} is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C21H39NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C21H39NO4/c1-5-6-7-8-9-10-11-12-13-14-15-16-21(25)26-19(17-20(23)24)18-22(2,3)4/h8-9,19H,5-7,10-18H2,1-4H3/b9-8-/t19-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ABVVZYXTZLEOHP-OLHLWXQYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "369.53870" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "369.28791" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCC\\C=C/CCCCCCCC(=O)O[C@H](CC([O-])=O)C[N+](C)(C)C" xsd:string [Term] id: CHEBI:84659 name: triacylglycerol 54:3 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 54 carbons and 3 double bonds." [] subset: 3_STAR synonym: "TAG 54:3" RELATED [ChEBI] synonym: "TG(54:3)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C57H104O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "884.7833" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "884.78329" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]C(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:84660 name: triacylglycerol 52:4 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 52 carbons and 4 double bonds." [] subset: 3_STAR synonym: "TAG 52:4" RELATED [ChEBI] synonym: "TG(52:4)" RELATED [ChEBI] synonym: "triacylglycerol(52:4)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C55H98O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "854.7363" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "854.73634" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]C(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:84661 name: triacylglycerol 52:3 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 52 carbons and 3 double bonds." [] subset: 3_STAR synonym: "TAG 52:3" RELATED [ChEBI] synonym: "TG(52:3)" RELATED [ChEBI] synonym: "triacylglycerol(52:3)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C55H100O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "856.7520" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "856.75199" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]C(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:84662 name: triacylglycerol 50:2 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 50 carbons and 2 double bonds." [] subset: 3_STAR synonym: "TAG 50:2" RELATED [ChEBI] synonym: "TG(50:2)" RELATED [ChEBI] synonym: "triacylglycerol(50:2)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C53H98O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "830.7363" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "830.73634" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]C(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:84665 name: triacylglycerol 50:1 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 50 carbons and 1 double bond." [] subset: 3_STAR synonym: "TAG 50:1" RELATED [ChEBI] synonym: "TAG(50:1)" RELATED [ChEBI] synonym: "TG(50:1)" RELATED [ChEBI] synonym: "triacylglycerol(50:1)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C53H100O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "832.7520" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "832.75199" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]C(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:8502 name: 6-propyl-2-thiouracil namespace: chebi_ontology def: "A pyrimidinethione consisting of uracil in which the 2-oxo group is substituted by a thio group and the hydrogen at position 6 is substituted by a propyl group." [] subset: 3_STAR synonym: "2,3-dihydro-6-propyl-2-thioxo-4(1H)-pyrimidinone" RELATED [NIST_Chemistry_WebBook] synonym: "2-Mercapto-6-propyl-4-pyrimidone" RELATED [ChemIDplus] synonym: "2-Mercapto-6-propylpyrimid-4-one" RELATED [NIST_Chemistry_WebBook] synonym: "2-Thio-4-oxo-6-propyl-1,3-pyrimidine" RELATED [ChemIDplus] synonym: "2-Thio-6-propyl-1,3-pyrimidin-4-one" RELATED [ChemIDplus] synonym: "4-Propyl-2-thiouracil" RELATED [ChemIDplus] synonym: "4-propyl-2-thiouracil" RELATED [ChemIDplus] synonym: "6-propyl-2-sulfanylidene-2,3-dihydropyrimidin-4(1H)-one" EXACT IUPAC_NAME [IUPAC] synonym: "6-Propyl-2-thio-2,4(1H,3H)pyrimidinedione" RELATED [ChemIDplus] synonym: "6-propyl-2-thiouracil" EXACT [ChemIDplus] synonym: "6-propyl-2-thioxo-2,3-dihydropyrimidin-4(1H)-one" RELATED [IUPAC] synonym: "6-Propylthiouracil" RELATED [ChemIDplus] synonym: "6-Thio-4-propyluracil" RELATED [NIST_Chemistry_WebBook] synonym: "propiltiouracilo" RELATED INN [ChemIDplus] synonym: "Propylthiouracil" RELATED [KEGG_COMPOUND] synonym: "propylthiouracil" RELATED INN [ChemIDplus] synonym: "propylthiouracile" RELATED INN [ChemIDplus] synonym: "propylthiouracilum" RELATED INN [ChemIDplus] xref: Beilstein:130039 {source="Beilstein"} xref: CAS:51-52-5 {source="KEGG COMPOUND"} xref: CAS:51-52-5 {source="NIST Chemistry WebBook"} xref: CAS:51-52-5 {source="ChemIDplus"} xref: ChEMBL:521208 xref: ChemIDplus:51-52-5 xref: CiteXplore:11005705 xref: CiteXplore:11036881 xref: CiteXplore:11350963 xref: CiteXplore:11401533 xref: CiteXplore:12135875 xref: CiteXplore:12922945 xref: CiteXplore:14692727 xref: CiteXplore:14745920 xref: CiteXplore:16380675 xref: CiteXplore:16498810 xref: CiteXplore:16880639 xref: CiteXplore:17365943 xref: CiteXplore:17497002 xref: CiteXplore:17878268 xref: CiteXplore:18055877 xref: CiteXplore:18710353 xref: CiteXplore:19530273 xref: CiteXplore:19578601 xref: CiteXplore:20166204 xref: CiteXplore:21749382 xref: CiteXplore:6387489 xref: Drug_Central:2308 {source="DrugCentral"} xref: DrugBank:DB00550 xref: Gmelin:1998546 {source="Gmelin"} xref: HMDB:HMDB0014690 xref: KEGG COMPOUND:51-52-5 xref: KEGG COMPOUND:C07569 xref: KEGG DRUG:D00562 xref: KEGG:C07569 xref: KEGG:D00562 xref: LINCS:LSM-5592 xref: MeSH:D011441 xref: NCIt:C781 xref: NIST Chemistry WebBook:51-52-5 xref: PMID:11005705 {source="Europe PMC"} xref: PMID:11036881 {source="Europe PMC"} xref: PMID:11350963 {source="Europe PMC"} xref: PMID:11401533 {source="Europe PMC"} xref: PMID:12135875 {source="Europe PMC"} xref: PMID:12922945 {source="Europe PMC"} xref: PMID:14692727 {source="Europe PMC"} xref: PMID:14745920 {source="Europe PMC"} xref: PMID:16380675 {source="Europe PMC"} xref: PMID:16498810 {source="Europe PMC"} xref: PMID:16880639 {source="Europe PMC"} xref: PMID:17365943 {source="Europe PMC"} xref: PMID:17497002 {source="Europe PMC"} xref: PMID:17878268 {source="Europe PMC"} xref: PMID:18055877 {source="Europe PMC"} xref: PMID:18710353 {source="Europe PMC"} xref: PMID:19530273 {source="Europe PMC"} xref: PMID:19578601 {source="Europe PMC"} xref: PMID:20166204 {source="Europe PMC"} xref: PMID:21749382 {source="Europe PMC"} xref: PMID:6387489 {source="Europe PMC"} xref: Reaxys:130039 {source="Reaxys"} xref: SNOMEDCT:3814009 xref: SNOMEDCT:387203007 xref: Wikipedia:Propylthiouracil is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H10N2OS" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H10N2OS/c1-2-3-5-4-6(10)9-7(11)8-5/h4H,2-3H2,1H3,(H2,8,9,10,11)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KNAHARQHSZJURB-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "170.23200" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "170.05138" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCc1cc(=O)[nH]c(=S)[nH]1" xsd:string [Term] id: CHEBI:85210 name: N-acetyl-D-methionine namespace: chebi_ontology def: "An N-acetyl-D-amino acid in which the amino acid is D-methionine." [] subset: 3_STAR synonym: "(2R)-2-acetamido-4-(methylsulfanyl)butanoic acid" RELATED [IUPAC] synonym: "(2R)-N-acetylmethionine" RELATED [ChEBI] synonym: "(R)-N-acetylmethionine" RELATED [ChEBI] synonym: "N-acetyl-D-methionine" EXACT IUPAC_NAME [IUPAC] xref: CAS:1509-92-8 {source="ChemIDplus"} xref: PMID:1167905 {source="Europe PMC"} xref: PMID:12354118 {source="Europe PMC"} xref: PMID:15313614 {source="Europe PMC"} xref: PMID:16347618 {source="Europe PMC"} xref: PMID:16362288 {source="Europe PMC"} xref: PMID:25716802 {source="Europe PMC"} xref: PMID:29509381 {source="Europe PMC"} xref: PMID:31478186 {source="Europe PMC"} xref: PMID:448454 {source="Europe PMC"} xref: PMID:6470816 {source="Europe PMC"} xref: Reaxys:1725553 {source="Reaxys"} xref: YMDB:YMDB00991 is_a: EFO:0004416 ! acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H13NO3S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H13NO3S/c1-5(9)8-6(7(10)11)3-4-12-2/h6H,3-4H2,1-2H3,(H,8,9)(H,10,11)/t6-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XUYPXLNMDZIRQH-ZCFIWIBFSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "191.24800" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "191.06161" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CSCC[C@@H](NC(C)=O)C(O)=O" xsd:string [Term] id: CHEBI:8551 name: Protein N6,N6,N6-trimethyl-L-lysine namespace: chebi_ontology subset: 2_STAR synonym: "Protein N6,N6,N6-trimethyl-L-lysine" EXACT [KEGG_COMPOUND] xref: KEGG:C05546 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "+1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H20N3O2R2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "214.285" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "214.15555" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[N+](C)(C)CCCC[C@H](NC([*])=O)C(=O)N[*]" xsd:string [Term] id: CHEBI:85533 name: trans-4-hydroxy-L-proline betaine namespace: chebi_ontology alt_id: CHEBI:81 def: "An amino-acid betaine that is trans-4-hydroxy-L-proline zwitterion in which both of the hydrogens attached to the nitrogen have been replaced by methyl groups." [] subset: 3_STAR synonym: "(-)-betonicine" RELATED [KEGG_COMPOUND] synonym: "(2,4R)-4-hydroxy-1,1-dimethylpyrrolidinium-2-carboxylate" EXACT IUPAC_NAME [IUPAC] synonym: "(2S-trans)-2-carboxylato-4-hydroxy-1,1-dimethylpyrrolidinium" RELATED [ChemIDplus] synonym: "4-hydroxystachydrine" RELATED [HMDB] synonym: "betonicine" RELATED [ChemIDplus] synonym: "trans-4-hydroxy-L-proline betaine" EXACT [UniProt] xref: CAS:515-25-3 {source="KEGG COMPOUND"} xref: CAS:515-25-3 {source="ChemIDplus"} xref: HMDB:HMDB0029412 xref: KEGG:C08269 xref: KNApSAcK:C00001345 xref: PDBeChem:0XW xref: PMID:21838291 {source="Europe PMC"} xref: PMID:24056934 {source="SUBMITTER"} xref: PMID:25012968 {source="Europe PMC"} xref: Reaxys:4136404 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H13NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H13NO3/c1-8(2)4-5(9)3-6(8)7(10)11/h5-6,9H,3-4H2,1-2H3/t5-,6+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "MUNWAHDYFVYIKH-RITPCOANSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "159.18300" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "159.08954" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[N+]1(C)C[C@H](O)C[C@H]1C([O-])=O" xsd:string [Term] id: CHEBI:85561 name: lysophosphatidylcholine 28:0 namespace: chebi_ontology def: "A lysophosphatidylcholine in which the remaining acyl group is specified as octacosanoyl (montanoyl). If R1 is the acyl group and R2 is a hydrogen then the molecule is a 1-acyl-sn-glycero-3-phosphocholine. If R1 is a hydrogen and R2 is the acyl group then the molecule is a 2-acyl-sn-glycero-3-phosphocholine." [] subset: 3_STAR synonym: "LPC 28:0" RELATED [ChEBI] synonym: "LPC(28:0)" RELATED [ChEBI] synonym: "LyPC(28:0)" RELATED [ChEBI] synonym: "LysoPC(28:0)" RELATED [ChEBI] synonym: "lysophosphatidylcholine(28:0)" RELATED [ChEBI] synonym: "montanoyl-sn-glycero-3-phosphocholine" RELATED [ChEBI] synonym: "octacosanoyl-sn-glycero-3-phosphocholine" RELATED [ChEBI] is_a: CHEBI:60479 ! lysophosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C36H74NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "663.949022" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "663.52029" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[N+](C)(C)CCOP([O-])(=O)OC[C@@H](CO[*])O[*]" xsd:string [Term] id: CHEBI:85562 name: lysophosphatidylcholine 28:1 namespace: chebi_ontology def: "An lysophosphatidylcholine in which the remaining acyl group contains 28 carbons with 1 double bond. If R1 is an acyl group and R2 is a hydrogen then the molecule is a 1-acyl-sn-glycero-3-phosphocholine. If R1 is a hydrogen and R2 is an acyl group then the molecule is a 2-acyl-sn-glycero-3-phosphocholine." [] subset: 3_STAR synonym: "LPC 28:1" RELATED [ChEBI] synonym: "LPC(28:1)" RELATED [ChEBI] synonym: "LyPC(28:1)" RELATED [ChEBI] synonym: "LysoPC(28:1)" RELATED [ChEBI] synonym: "lysophosphatidylcholine(28:1)" RELATED [ChEBI] synonym: "octacosaenoyl-sn-glycero-3-phosphocholine" RELATED [ChEBI] is_a: CHEBI:60479 ! lysophosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C36H72NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "661.933142" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "661.50464" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[N+](C)(C)CCOP([O-])(=O)OC[C@@H](CO[*])O[*]" xsd:string [Term] id: CHEBI:85564 name: phosphatidylcholine 24:0 namespace: chebi_ontology def: "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 24 carbons in total with 0 double bonds." [] subset: 3_STAR synonym: "GPCho(24:0)" RELATED [ChEBI] synonym: "PC 24:0" RELATED [ChEBI] synonym: "PC(24:0)" RELATED [ChEBI] synonym: "phosphatidylcholine(24:0)" RELATED [ChEBI] is_a: CHEBI:64482 ! phosphatidylcholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C32H64NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "621.826222" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "621.43695" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[N+](C)(C)CCOP([O-])(=O)OC[C@@H](COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:85565 name: phosphatidylcholine O-30:0 namespace: chebi_ontology def: "An alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 30 carbons and 0 double bond." [] subset: 3_STAR synonym: "GPCho(O-30:0)" RELATED [ChEBI] synonym: "PC O-30:0" RELATED [ChEBI] synonym: "PC(O-30:0)" RELATED [ChEBI] synonym: "PC-O(30:0)" RELATED [ChEBI] synonym: "phosphatidylcholine(O-30:0)" RELATED [ChEBI] is_a: CHEBI:36313 ! glycerophosphocholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C38H78NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "692.0022" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "691.55159" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[N+](C)(C)CCOP([O-])(=O)OC[C@@H](CO[*])O[*]" xsd:string [Term] id: CHEBI:85568 name: phosphatidylcholine O-32:2 namespace: chebi_ontology def: "An alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 32 carbons and 2 double bonds." [] subset: 3_STAR synonym: "PC O-32:2" RELATED [ChEBI] synonym: "PC(O-32:2)" RELATED [ChEBI] synonym: "PC-O(32:2)" RELATED [ChEBI] synonym: "phosphatidylcholine(O-32:2)" RELATED [ChEBI] is_a: CHEBI:36313 ! glycerophosphocholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C40H78NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "716.023582" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "715.55159" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[N+](C)(C)CCOP([O-])(=O)OC[C@@H](CO[*])O[*]" xsd:string [Term] id: CHEBI:85570 name: phosphatidylcholine O-40:3 namespace: chebi_ontology def: "An alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 40 carbons and 3 double bonds." [] subset: 3_STAR synonym: "PC O-40:3" RELATED [ChEBI] synonym: "PC(O-40:3)" RELATED [ChEBI] synonym: "phosphatidylcholine(O-40:3)" RELATED [ChEBI] is_a: CHEBI:36313 ! glycerophosphocholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C48H92NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "826.220342" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "825.66114" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[N+](C)(C)CCOP([O-])(=O)OC[C@@H](CO[*])O[*]" xsd:string [Term] id: CHEBI:85571 name: phosphatidylcholine O-40:4 namespace: chebi_ontology def: "An alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 40 carbons and 4 double bonds." [] subset: 3_STAR synonym: "PC O-40:4" RELATED [ChEBI] synonym: "PC(O-40:4)" RELATED [ChEBI] synonym: "phosphatidylcholine(O-40:4)" RELATED [ChEBI] is_a: CHEBI:36313 ! glycerophosphocholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C48H90NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "824.204462" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "823.64549" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[N+](C)(C)CCOP([O-])(=O)OC[C@@H](CO[*])O[*]" xsd:string [Term] id: CHEBI:85573 name: phosphatidylcholine O-40:5 namespace: chebi_ontology def: "An alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 40 carbons and 5 double bonds." [] subset: 3_STAR synonym: "PC O-40:5" RELATED [ChEBI] synonym: "PC(O-40:5)" RELATED [ChEBI] synonym: "phosphatidylcholine(O-40:5)" RELATED [ChEBI] is_a: CHEBI:36313 ! glycerophosphocholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C48H88NO7" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "822.1886" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "790.65608" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[N+](C)(C)CCOP([O-])(=O)OC[C@@H](CO[*])O[*]" xsd:string [Term] id: CHEBI:85574 name: phosphatidylcholine O-40:1 namespace: chebi_ontology def: "An alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 40 carbons and 1 double bond." [] subset: 3_STAR synonym: "PC O-40:1" RELATED [ChEBI] synonym: "PC(O-40:1)" RELATED [ChEBI] synonym: "phosphatidylcholine(O-40:1)" RELATED [ChEBI] is_a: CHEBI:36313 ! glycerophosphocholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C48H96NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "830.2521" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "829.69244" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[N+](C)(C)CCOP([O-])(=O)OC[C@@H](CO[*])O[*]" xsd:string [Term] id: CHEBI:85582 name: phosphatidylcholine O-42:0 namespace: chebi_ontology def: "An alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 42 carbons and 0 double bonds." [] subset: 3_STAR synonym: "GPCho(O-42:0)" RELATED [ChEBI] synonym: "PC O-42:0" RELATED [ChEBI] synonym: "PC(O-42:0)" RELATED [ChEBI] synonym: "phosphatidylcholine(O-42:0)" RELATED [ChEBI] is_a: CHEBI:36313 ! glycerophosphocholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C50H102NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "860.3211" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "859.73939" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[N+](C)(C)CCOP([O-])(=O)OC[C@@H](CO[*])O[*]" xsd:string [Term] id: CHEBI:85583 name: phosphatidylcholine O-42:1 namespace: chebi_ontology def: "An alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 42 carbons and 1 double bond." [] subset: 3_STAR synonym: "GPCho(O-42:1)" RELATED [ChEBI] synonym: "PC O-42:1" RELATED [ChEBI] synonym: "PC(O-42:1)" RELATED [ChEBI] synonym: "phosphatidylcholine(O-42:1)" RELATED [ChEBI] is_a: CHEBI:36313 ! glycerophosphocholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C50H100NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "858.3053" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "857.72374" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[N+](C)(C)CCOP([O-])(=O)OC[C@@H](CO[*])O[*]" xsd:string [Term] id: CHEBI:85584 name: phosphatidylcholine O-42:2 namespace: chebi_ontology def: "An alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 42 carbons and 2 double bonds." [] subset: 3_STAR synonym: "GPCho(O-42:2)" RELATED [ChEBI] synonym: "PC O-42:2" RELATED [ChEBI] synonym: "PC(O-42:2)" RELATED [ChEBI] synonym: "phosphatidylcholine(O-42:2)" RELATED [ChEBI] is_a: CHEBI:36313 ! glycerophosphocholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C50H98NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "856.2894" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "855.70809" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[N+](C)(C)CCOP([O-])(=O)OC[C@@H](CO[*])O[*]" xsd:string [Term] id: CHEBI:85585 name: phosphatidylcholine O-42:3 namespace: chebi_ontology def: "An alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 42 carbons and 3 double bonds." [] subset: 3_STAR synonym: "GPCho(42:3)" RELATED [ChEBI] synonym: "PC O-42:3" RELATED [ChEBI] synonym: "PC(O-42:3)" RELATED [ChEBI] synonym: "phosphatidylcholine(O-42:3)" RELATED [ChEBI] is_a: CHEBI:36313 ! glycerophosphocholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C50H96NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "854.2735" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "853.69244" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[N+](C)(C)CCOP([O-])(=O)OC[C@@H](CO[*])O[*]" xsd:string [Term] id: CHEBI:85588 name: phosphatidylcholine O-42:4 namespace: chebi_ontology def: "An alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 42 carbons and 4 double bonds." [] subset: 3_STAR synonym: "GPCho(42:4)" RELATED [ChEBI] synonym: "PC O-42:4" RELATED [ChEBI] synonym: "PC(O-42:4)" RELATED [ChEBI] synonym: "phosphatidylcholine(O-42:4)" RELATED [ChEBI] is_a: CHEBI:36313 ! glycerophosphocholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C50H94NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "852.2576" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "851.67679" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[N+](C)(C)CCOP([O-])(=O)OC[C@@H](CO[*])O[*]" xsd:string [Term] id: CHEBI:85590 name: phosphatidylcholine O-42:5 namespace: chebi_ontology def: "An alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 42 carbons and 5 double bonds." [] subset: 3_STAR synonym: "GPCho(42:5)" RELATED [ChEBI] synonym: "PC O-42:5" RELATED [ChEBI] synonym: "PC(O-42:5)" RELATED [ChEBI] synonym: "phosphatidylcholine(O-42:5)" RELATED [ChEBI] is_a: CHEBI:36313 ! glycerophosphocholine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C50H92NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "850.2417" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "849.66114" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[N+](C)(C)CCOP([O-])(=O)OC[C@@H](CO[*])O[*]" xsd:string [Term] id: CHEBI:85693 name: diacylglycerol 34:2 namespace: chebi_ontology def: "A diglyceride in which the two acyl groups contain a total of 34 carbons and 2 double bonds." [] subset: 3_STAR synonym: "DG(34:2)" RELATED [ChEBI] synonym: "diacylglycerol (34:2)" RELATED [ChEBI] is_a: CHEBI:18035 ! diglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C37H68O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "592.9328" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "592.50668" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]OCC(CO[*])O[*]" xsd:string [Term] id: CHEBI:85694 name: diacylglycerol 34:1 namespace: chebi_ontology def: "A diglyceride in which the two acyl groups contain a total of 34 carbons and 1 double bond." [] subset: 3_STAR synonym: "DAG 34:1" RELATED [ChEBI] synonym: "DAG(34:1)" RELATED [ChEBI] synonym: "DG 34:1" RELATED [ChEBI] synonym: "DG(34:1)" RELATED [ChEBI] synonym: "diacylglycerol(34:1)" RELATED [ChEBI] is_a: CHEBI:18035 ! diglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C37H70O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "594.9487" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "594.52233" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]OCC(CO[*])O[*]" xsd:string [Term] id: CHEBI:85701 name: diacylglycerol 36:2 namespace: chebi_ontology def: "A diglyceride in which the two acyl groups contain a total of 36 carbons and 2 double bonds." [] subset: 3_STAR synonym: "DG(36:2)" RELATED [ChEBI] synonym: "diacylglycerol (36:2)" RELATED [ChEBI] is_a: CHEBI:18035 ! diglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C39H72O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "620.987" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "620.53798" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]OCC(CO[*])O[*]" xsd:string [Term] id: CHEBI:85725 name: triacylglycerol 48:2 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 48 carbons and 2 double bonds." [] subset: 3_STAR synonym: "TAG(48:2)" RELATED [ChEBI] synonym: "TG(48:2)" RELATED [ChEBI] synonym: "triacylglycerol(48:2)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C51H94O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "803.2885" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "802.70504" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]C(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:85726 name: triacylglycerol 48:1 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 48 carbons and 1 double bond." [] subset: 3_STAR synonym: "TAG 48:1" RELATED [ChEBI] synonym: "TAG(48:1)" RELATED [ChEBI] synonym: "TG(48:1)" RELATED [ChEBI] synonym: "triacylglycerol(48:1)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C51H96O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "805.3043" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "804.72069" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]C(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:85729 name: triacylglycerol 50:3 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 50 carbons and 3 double bonds." [] subset: 3_STAR synonym: "TAG(50:3)" RELATED [ChEBI] synonym: "TG(50:3)" RELATED [ChEBI] synonym: "triacylglycerol(50:3)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C53H96O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "829.3257" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "828.72069" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]C(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:85734 name: triacylglycerol 52:5 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 52 carbons and 5 double bonds." [] subset: 3_STAR synonym: "TAG(52:5)" RELATED [ChEBI] synonym: "TG(52:5)" RELATED [ChEBI] synonym: "triacylglycerol(52:5)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C55H96O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "853.3471" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "852.72069" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]C(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:85736 name: triacylglycerol 52:2 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 52 carbons and 2 double bonds." [] subset: 3_STAR synonym: "TAG(52:2)" RELATED [ChEBI] synonym: "TG(52:2)" RELATED [ChEBI] synonym: "triacylglycerol(52:2)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C55H102O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "859.3948" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "858.76764" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]C(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:85740 name: triacylglycerol 54:7 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 54 carbons and 7 double bonds." [] subset: 3_STAR synonym: "TAG(54:7)" RELATED [ChEBI] synonym: "TG(54:7)" RELATED [ChEBI] synonym: "triacylglycerol(54:7)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C57H96O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "877.3685" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "876.72069" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]C(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:85741 name: triacylglycerol 54:5 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 54 carbons and 5 double bonds." [] subset: 3_STAR synonym: "TAG(54:5)" RELATED [ChEBI] synonym: "TG(54:5)" RELATED [ChEBI] synonym: "triacylglycerol(54:5)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C57H100O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "881.4003" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "880.75199" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]C(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:85742 name: triacylglycerol 54:4 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 54 carbons and 4 double bonds." [] subset: 3_STAR synonym: "TAG(54:4)" RELATED [ChEBI] synonym: "TG(54:4)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C57H102O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "883.4162" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "882.76764" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]C(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:85743 name: triacylglycerol 54:2 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 54 carbons and 2 double bonds." [] subset: 3_STAR synonym: "TAG(54:2)" RELATED [ChEBI] synonym: "TG(54:2)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C57H106O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "887.4479" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "886.79894" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]C(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:85747 name: triacylglycerol 56:9 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 56 carbons and 9 double bonds." [] subset: 3_STAR synonym: "TAG(56:9)" RELATED [ChEBI] synonym: "TG(56:9)" RELATED [ChEBI] synonym: "triacylglycerol(56:9)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C59H96O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "901.3899" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "900.72069" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]C(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:85748 name: triacylglycerol 56:8 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 56 carbons and 8 double bonds." [] subset: 3_STAR synonym: "TAG(56:8)" RELATED [ChEBI] synonym: "TG(56:8)" RELATED [ChEBI] synonym: "triacylglycerol(56:8)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C59H98O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "903.4058" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "902.73634" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]C(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:85749 name: triacylglycerol 56:7 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 56 carbons and 7 double bonds." [] subset: 3_STAR synonym: "TAG(56:7)" RELATED [ChEBI] synonym: "TG(56:7)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C59H100O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "905.4217" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "904.75199" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]C(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:85750 name: triacylglycerol 56:6 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 56 carbons and 6 double bonds." [] subset: 3_STAR synonym: "TAG(56:6)" RELATED [ChEBI] synonym: "TG(56:6)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C59H102O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "907.4376" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "906.76764" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]C(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:85751 name: triacylglycerol 56:5 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 56 carbons and 5 double bonds." [] subset: 3_STAR synonym: "TAG(56:5)" RELATED [ChEBI] synonym: "TG(56:5)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C59H104O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "909.4535" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "908.78329" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]C(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:85752 name: triacylglycerol 58:10 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 58 carbons and 10 double bonds." [] subset: 3_STAR synonym: "TAG(58:10)" RELATED [ChEBI] synonym: "TG(58:10)" RELATED [ChEBI] synonym: "triacylglycerol(58:10)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C61H98O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "927.4272" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "926.73634" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]C(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:85753 name: triacylglycerol 58:9 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 58 carbons and 9 double bonds." [] subset: 3_STAR synonym: "TAG(58:9)" RELATED [ChEBI] synonym: "TG(58:9)" RELATED [ChEBI] synonym: "triacylglycerol(58:9)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C61H100O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "929.4431" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "928.75199" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]C(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:85754 name: triacylglycerol 58:8 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 58 carbons and 8 double bonds." [] subset: 3_STAR synonym: "TAG(58:8)" RELATED [ChEBI] synonym: "TG(58:8)" RELATED [ChEBI] synonym: "triacylglycerol(58:8)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C61H102O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "931.461" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "930.76764" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]C(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:85755 name: triacylglycerol 58:7 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 58 carbons and 7 double bonds." [] subset: 3_STAR synonym: "TAG(58:7)" RELATED [ChEBI] synonym: "TG(58:7)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C61H104O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "933.4749" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "932.78329" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]C(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:85757 name: triacylglycerol 58:6 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 58 carbons and 6 double bonds." [] subset: 3_STAR synonym: "TAG(58:6)" RELATED [ChEBI] synonym: "TG(58:6)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C61H106O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "935.4907" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "934.79894" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]C(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:85825 name: triacylglycerol 48:4 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 48 carbons and 4 double bonds." [] subset: 3_STAR synonym: "TAG 48:4" RELATED [ChEBI] synonym: "TG(48:4)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C51H90O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "799.2567" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "798.67374" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]C(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:85832 name: triacylglycerol 50:4 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 50 carbons and 4 double bonds." [] subset: 3_STAR synonym: "TAG(50:4)" RELATED [ChEBI] synonym: "TG(50:4)" RELATED [ChEBI] synonym: "triacylglycerol(50:4)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C53H94O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "827.3099" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "826.70504" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]C(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:85837 name: triacylglycerol 54:8 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 54 carbons and 8 double bonds." [] subset: 3_STAR synonym: "TAG(54:8)" RELATED [ChEBI] synonym: "TG(54:8)" RELATED [ChEBI] synonym: "triacylglycerol(54:8)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C57H94O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "875.3527" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "874.70504" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]C(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:85842 name: triacylglycerol 56:4 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 56 carbons and 4 double bonds." [] subset: 3_STAR synonym: "TAG(56:4)" RELATED [ChEBI] synonym: "TG(56:4)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C59H106O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "911.4693" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "910.79894" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]C(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:85843 name: triacylglycerol 56:3 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 56 carbons and 3 double bonds." [] subset: 3_STAR synonym: "TAG(56:3)" RELATED [ChEBI] synonym: "TG(56:3)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C59H108O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "913.4852" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "912.81459" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]C(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:85868 name: triacylglycerol 46:0 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 46 carbons and 0 double bonds." [] subset: 3_STAR synonym: "TAG(46:0)" RELATED [ChEBI] synonym: "TG(46:0)" RELATED [ChEBI] synonym: "triacylglycerol(46:0)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C49H94O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "779.2671" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "778.70504" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]C(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:85869 name: triacylglycerol 46:1 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 46 carbons and 1 double bond." [] subset: 3_STAR synonym: "TAG(46:1)" RELATED [ChEBI] synonym: "TG(46:1)" RELATED [ChEBI] synonym: "triacylglycerol (46:1)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C49H92O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "777.2512" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "776.68939" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]C(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:85870 name: triacylglycerol 48:0 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 48 carbons and 0 double bonds." [] subset: 3_STAR synonym: "TAG 48:0" RELATED [ChEBI] synonym: "TAG(48:0)" RELATED [ChEBI] synonym: "TG(48:0)" RELATED [ChEBI] synonym: "triacylglycerol(48:0)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C51H98O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "807.3202" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "806.73634" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]C(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:85871 name: triacylglycerol 48:3 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 48 carbons and 3 double bonds." [] subset: 3_STAR synonym: "TAG(48:3)" RELATED [ChEBI] synonym: "TG(48:3)" RELATED [ChEBI] synonym: "triacylglycerol(48:3)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C51H92O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "801.2726" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "800.68939" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]C(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:85875 name: triacylglycerol 52:6 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 52 carbons and 6 double bonds." [] subset: 3_STAR synonym: "TAG(52:6)" RELATED [ChEBI] synonym: "TG(52:6)" RELATED [ChEBI] synonym: "triacylglycerol(52:6)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C55H94O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "851.3313" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "850.70504" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]C(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:85876 name: triacylglycerol 54:6 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 54 carbons and 6 double bonds." [] subset: 3_STAR synonym: "TAG(54:6)" RELATED [ChEBI] synonym: "TG(54:6)" RELATED [ChEBI] synonym: "triacylglycerol(54:6)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C57H98O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "879.38440" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "878.73634" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]C(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:85877 name: triacylglycerol 56:10 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 56 carbons and 10 double bonds." [] subset: 3_STAR synonym: "TAG(56:10)" RELATED [ChEBI] synonym: "TG(56:10)" RELATED [ChEBI] synonym: "triacylglycerol(56:10)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C59H94O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "899.3741" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "898.70504" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]C(=O)OCC(COC([*])=O)OC([*])=O" xsd:string [Term] id: CHEBI:86051 name: O-octanoyl-D-carnitine namespace: chebi_ontology def: "An O-acyl-D-carnitine in which the acyl group specified as octanoyl." [] subset: 3_STAR synonym: "(3S)-3-(octanoyloxy)-4-(trimethylazaniumyl)butanoate" EXACT IUPAC_NAME [IUPAC] is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C15H29NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C15H29NO4/c1-5-6-7-8-9-10-15(19)20-13(11-14(17)18)12-16(2,3)4/h13H,5-12H2,1-4H3/t13-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CXTATJFJDMJMIY-ZDUSSCGKSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "287.39510" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "287.20966" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCC(=O)O[C@@H](CC([O-])=O)C[N+](C)(C)C" xsd:string [Term] id: CHEBI:86094 name: 1-tetradecanoyl-2-[(9Z,12Z)-octadecadienoyl]-sn-glycero-3-phosphocholine namespace: chebi_ontology def: "A phosphatidylcholine 32:2 in which the acyl groups specified at positions 1 and 2 are tetradecanoyl and (9Z,12Z)-octadecadienoyl respectively." [] subset: 3_STAR synonym: "(2R)-2-{[(9Z,12Z)-octadeca-9,12-dienoyl]oxy}-3-(tetradecanoyloxy)propyl 2-(trimethylazaniumyl)ethyl phosphate" EXACT IUPAC_NAME [IUPAC] synonym: "1-Myristoyl-2-linoleoyl-sn-glycero-3-phosphocholine" RELATED [HMDB] synonym: "1-tetradecanoyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine" RELATED [UniProt] synonym: "GPCho(14:0/18:2)" RELATED [HMDB] synonym: "GPCho(14:0/18:2n6)" RELATED [HMDB] synonym: "GPCho(14:0/18:2w6)" RELATED [HMDB] synonym: "PC(14:0/18:2(9Z,12Z))" RELATED [LIPID_MAPS] synonym: "PC(14:0/18:2)" RELATED [HMDB] synonym: "PC(14:0/18:2n6)" RELATED [HMDB] synonym: "PC(14:0/18:2w6)" RELATED [HMDB] synonym: "Phosphatidylcholine(14:0/18:2)" RELATED [HMDB] synonym: "Phosphatidylcholine(14:0/18:2n6)" RELATED [HMDB] synonym: "Phosphatidylcholine(14:0/18:2w6)" RELATED [HMDB] xref: HMDB:HMDB0007874 xref: LIPID_MAPS_instance:LMGP01010496 {source="LIPID MAPS"} is_a: CHEBI:66848 ! phosphatidylcholine 32:2 property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C40H76NO8P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C40H76NO8P/c1-6-8-10-12-14-16-18-19-20-21-23-25-27-29-31-33-40(43)49-38(37-48-50(44,45)47-35-34-41(3,4)5)36-46-39(42)32-30-28-26-24-22-17-15-13-11-9-7-2/h14,16,19-20,38H,6-13,15,17-18,21-37H2,1-5H3/b16-14-,20-19-/t38-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IWXJKHSPEQSQMD-GMGFYYQASA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "730.00710" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "729.53086" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCCCCCCCC(=O)OC[C@H](COP([O-])(=O)OCC[N+](C)(C)C)OC(=O)CCCCCCC\\C=C/C\\C=C/CCCCC" xsd:string [Term] id: CHEBI:86319 name: 25-hydroxyvitamin D2 namespace: chebi_ontology def: "A hydroxycalciol that is vitamin D2 in which the hydrogen at position 25 has been replaced by a hydroxy group." [] subset: 3_STAR synonym: "(3S,5Z,7E,22E)-9,10-secoergosta-5,7,10,22-tetraene-3,25-diol" EXACT IUPAC_NAME [IUPAC] synonym: "25-Hydroxycalciferol" RELATED [HMDB] synonym: "25-hydroxyergocalciferol" RELATED [LIPID_MAPS] synonym: "25-hydroxyvitamin D2" EXACT [UniProt] synonym: "9,10-secoergosta-5,7,10(19),22-tetraene-3beta,25-diol" RELATED [HMDB] synonym: "ercalcidiol" RELATED [HMDB] xref: CAS:21343-40-8 {source="ChemIDplus"} xref: HMDB:HMDB0001438 xref: LIPID_MAPS_instance:LMST03010030 {source="LIPID MAPS"} xref: PMID:15465040 {source="SUBMITTER"} xref: PMID:25125396 {source="Europe PMC"} xref: PMID:25211403 {source="Europe PMC"} xref: PMID:25403087 {source="Europe PMC"} xref: PMID:25575651 {source="Europe PMC"} xref: PMID:25587834 {source="Europe PMC"} xref: PMID:25729734 {source="Europe PMC"} xref: PMID:25845705 {source="Europe PMC"} xref: PMID:25967149 {source="Europe PMC"} xref: PMID:26025465 {source="Europe PMC"} xref: PMID:26054580 {source="Europe PMC"} xref: PMID:26059899 {source="Europe PMC"} xref: Reaxys:4716773 {source="Reaxys"} is_a: CHEBI:27300 ! vitamin D property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C28H44O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C28H44O2/c1-19-10-14-24(29)18-23(19)13-12-22-8-7-17-28(6)25(15-16-26(22)28)20(2)9-11-21(3)27(4,5)30/h9,11-13,20-21,24-26,29-30H,1,7-8,10,14-18H2,2-6H3/b11-9+,22-12+,23-13-/t20-,21+,24+,25-,26+,28-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KJKIIUAXZGLUND-ICCVIKJNSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "412.64780" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "412.33413" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C[C@H](\\C=C\\[C@H](C)C(C)(C)O)[C@H]1CC[C@H]2\\C(CCC[C@]12C)=C\\C=C1\\C[C@@H](O)CCC1=C" xsd:string [Term] id: CHEBI:86387 name: 3-methyladipate(2-) namespace: chebi_ontology def: "A dicarboxylic acid dianion obtained by deprotonation of both carboxy groups of 3-methyladipic acid." [] subset: 3_STAR synonym: "3-methylhexanedioate" EXACT IUPAC_NAME [IUPAC] xref: PMID:24023812 {source="Europe PMC"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C7H10O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C7H12O4/c1-5(4-7(10)11)2-3-6(8)9/h5H,2-4H2,1H3,(H,8,9)(H,10,11)/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "SYEOWUNSTUDKGM-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "158.15300" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "158.05901" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC(CCC([O-])=O)CC([O-])=O" xsd:string [Term] id: CHEBI:86392 name: 4-guanidinobutanoate namespace: chebi_ontology def: "A monocarboxylic acid anion that is the conjugate base of 4-guanidinobutanoic acid." [] subset: 3_STAR synonym: "4-carbamimidamidobutanoate" EXACT IUPAC_NAME [IUPAC] is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H10N3O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H11N3O2/c6-5(7)8-3-1-2-4(9)10/h1-3H2,(H,9,10)(H4,6,7,8)/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "TUHVEAJXIMEOSA-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "144.15230" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "144.07785" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "NC(=N)NCCCC([O-])=O" xsd:string [Term] id: CHEBI:86468 name: dimethylarginine namespace: chebi_ontology def: "An arginine derivative that is arginine substituted by two methyl groups. A \"closed\" class." [] subset: 3_STAR synonym: "dimethylarginines" RELATED [ChEBI] is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H18N4O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "202.25410" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "202.14298" xsd:string [Term] id: CHEBI:86612 name: dihydroferulic acid namespace: chebi_ontology def: "A monocarboxylic acid that is propanoic acid in which one of the hydrogens at position 3 has been replaced by a 4-hydroxy-3-methoxyphenyl group." [] subset: 3_STAR synonym: "3-(4-hydroxy-3-methoxyphenyl)propanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "3-(4-hydroxy-3-methoxyphenyl)propionic acid" RELATED [ChemIDplus] synonym: "dihydroconiferylic acid" RELATED [ChemIDplus] xref: AGR:IND601125916 {source="Europe PMC"} xref: CAS:1135-23-5 {source="ChemIDplus"} xref: CAS:1135-23-5 {source="NIST Chemistry WebBook"} xref: FooDB:FDB029987 xref: KNApSAcK:C00040946 xref: PMID:11368919 {source="Europe PMC"} xref: PMID:11693915 {source="Europe PMC"} xref: PMID:17469871 {source="Europe PMC"} xref: PMID:19157126 {source="Europe PMC"} xref: PMID:21676405 {source="Europe PMC"} xref: PMID:23904092 {source="Europe PMC"} xref: PMID:23982107 {source="Europe PMC"} xref: PMID:24947504 {source="Europe PMC"} xref: PMID:24949277 {source="Europe PMC"} xref: PMID:25261518 {source="Europe PMC"} xref: PMID:25644343 {source="Europe PMC"} xref: PMID:25809126 {source="Europe PMC"} xref: PMID:26471074 {source="Europe PMC"} xref: PMID:26899568 {source="Europe PMC"} xref: PMID:27102241 {source="Europe PMC"} xref: PMID:27689343 {source="Europe PMC"} xref: Reaxys:2110370 {source="Reaxys"} is_a: CHEBI:33853 ! phenols is_a: EFO:0004416 ! acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H12O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H12O4/c1-14-9-6-7(2-4-8(9)11)3-5-10(12)13/h2,4,6,11H,3,5H2,1H3,(H,12,13)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BOLQJTPHPSDZHR-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "196.200" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "196.07356" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C=1(C=C(C(=CC1)O)OC)CCC(=O)O" xsd:string [Term] id: CHEBI:86910 name: N-acetylhistidine namespace: chebi_ontology def: "A histidine derivative that is histidine in which one of the hydrogens of the alpha-amino group is substituted by an acetyl group." [] subset: 3_STAR synonym: "2-acetamido-3-(1H-imidazol-5-yl)propanoic acid" RELATED [ChEBI] synonym: "N-acetylhistidine" EXACT IUPAC_NAME [IUPAC] xref: FooDB:FDB008762 xref: HMDB:HMDB0032055 xref: PMID:22791204 {source="Europe PMC"} xref: PMID:28661002 {source="Europe PMC"} xref: PMID:31558272 {source="Europe PMC"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H11N3O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H11N3O3/c1-5(12)11-7(8(13)14)2-6-3-9-4-10-6/h3-4,7H,2H2,1H3,(H,9,10)(H,11,12)(H,13,14)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KBOJOGQFRVVWBH-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "197.194" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "197.08004" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(=O)(C(CC=1NC=NC1)NC(=O)C)O" xsd:string [Term] id: CHEBI:86980 name: diacylglycerol 36:1 namespace: chebi_ontology def: "A diglyceride in which the two acyl groups contain a total of 36 carbons and 1 double bond." [] subset: 3_STAR synonym: "DG(36:1)" RELATED [ChEBI] synonym: "diacylglycerol (36:1)" RELATED [ChEBI] xref: PMID:23740967 {source="Europe PMC"} is_a: CHEBI:18035 ! diglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C39H74O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "623.0019" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "622.55363" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[*]OCC(CO[*])O[*]" xsd:string [Term] id: CHEBI:8707 name: quetiapine namespace: chebi_ontology subset: 3_STAR synonym: "2-[2-(4-Dibenzo[b,f][1,4]thiazepin-11-yl-1-piperazinyl)ethoxy]ethanol" RELATED [KEGG_COMPOUND] synonym: "2-[2-(4-dibenzo[b,f][1,4]thiazepin-11-ylpiperazin-1-yl)ethoxy]ethanol" EXACT IUPAC_NAME [IUPAC] synonym: "quetiapina" RELATED INN [ChEBI] synonym: "Quetiapine" EXACT [KEGG_COMPOUND] synonym: "quetiapine" RELATED INN [ChEBI] synonym: "quetiapinum" RELATED INN [ChEBI] xref: CAS:111974-69-7 {source="ChemIDplus"} xref: Drug_Central:2337 {source="DrugCentral"} xref: DrugBank:DB01224 xref: KEGG:C07397 xref: KEGG:D08456 xref: LINCS:LSM-3543 xref: MeSH:C069541 xref: NCIt:C61917 xref: Patent:EP240228 xref: Patent:US4879288 xref: SNOMEDCT:108443001 xref: SNOMEDCT:386850001 xref: Wikipedia:Quetiapine is_a: CHEBI:39268 ! dibenzothiazepine relationship: has_role CHEBI:35476 ! antipsychotic agent relationship: has_role CHEBI:37887 ! adrenergic antagonist relationship: has_role CHEBI:37956 ! histamine antagonist relationship: has_role CHEBI:48279 ! serotonergic antagonist relationship: has_role CHEBI:48561 ! dopaminergic antagonist property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C21H25N3O2S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C21H25N3O2S/c25-14-16-26-15-13-23-9-11-24(12-10-23)21-17-5-1-3-7-19(17)27-20-8-4-2-6-18(20)22-21/h1-8,25H,9-16H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "URKOMYMAXPYINW-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "383.50700" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "383.16675" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OCCOCCN1CCN(CC1)C1=Nc2ccccc2Sc2ccccc12" xsd:string [Term] id: CHEBI:87248 name: ethyl glucuronide namespace: chebi_ontology def: "A beta-D-glucosiduronic acid that is the ethyl derivative of beta-D-glucuronic acid." [] subset: 3_STAR synonym: "ethyl beta-D-glucopyranosiduronic acid" EXACT IUPAC_NAME [IUPAC] xref: CAS:17685-04-0 {source="ChemIDplus"} xref: HMDB:HMDB0010325 xref: PMID:24023812 {source="Europe PMC"} xref: Reaxys:1247465 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H14O7" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H14O7/c1-2-14-8-5(11)3(9)4(10)6(15-8)7(12)13/h3-6,8-11H,2H2,1H3,(H,12,13)/t3-,4-,5+,6-,8+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IWJBVMJWSPZNJH-UQGZVRACSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "222.19260" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "222.07395" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCO[C@@H]1O[C@@H]([C@@H](O)[C@H](O)[C@H]1O)C(O)=O" xsd:string [Term] id: CHEBI:8772 name: raloxifene namespace: chebi_ontology alt_id: CHEBI:45355 def: "A member of the class of 1-benzothiophenes that is 1-benzothiophene in which the hydrogens at positions 2, 3, and 6 have been replaced by p-hydroxyphenyl, p-[2-(piperidin-1-yl)ethoxy]benzoyl, and hydroxy groups, respectively." [] subset: 3_STAR synonym: "(2-(4-Hydroxyphenyl)-6-hydroxybenzo(b)thien-3-yl)(4-(2-(1-piperidinyl)ethoxy)phenyl)methanone" RELATED [ChemIDplus] synonym: "[6-hydroxy-2-(4-hydroxyphenyl)-1-benzothien-3-yl][4-(2-piperidin-1-ylethoxy)phenyl]methanone" EXACT IUPAC_NAME [IUPAC] synonym: "LY 139481" RELATED [KEGG_COMPOUND] synonym: "Raloxifene" EXACT [KEGG_COMPOUND] synonym: "raloxifene" RELATED INN [ChEBI] synonym: "raloxifene" RELATED INN [ChemIDplus] synonym: "raloxifeno" RELATED INN [ChemIDplus] synonym: "raloxifenum" RELATED INN [ChemIDplus] xref: Beilstein:4890356 {source="Beilstein"} xref: CAS:84449-90-1 {source="ChemIDplus"} xref: Drug_Central:2351 {source="DrugCentral"} xref: DrugBank:DB00481 xref: KEGG:C07228 xref: KEGG:D08465 xref: LINCS:LSM-3425 xref: MeSH:D020849 xref: NCIt:C1518 xref: Patent:EP62503 xref: Patent:US4418068 xref: PDBeChem:RAL xref: SNOMEDCT:109029006 xref: SNOMEDCT:419530003 xref: Wikipedia:Raloxifene is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:33853 ! phenols property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C28H27NO4S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C28H27NO4S/c30-21-8-4-20(5-9-21)28-26(24-13-10-22(31)18-25(24)34-28)27(32)19-6-11-23(12-7-19)33-17-16-29-14-2-1-3-15-29/h4-13,18,30-31H,1-3,14-17H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GZUITABIAKMVPG-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "473.585" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "473.16608" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "S1C(=C(C2=C1C=C(O)C=C2)C(=O)C3=CC=C(OCCN4CCCCC4)C=C3)C5=CC=C(O)C=C5" xsd:string [Term] id: CHEBI:87737 name: (R)-warfarin namespace: chebi_ontology alt_id: CHEBI:45582 def: "A 4-hydroxy-3-(3-oxo-1-phenylbutyl)-2H-1-benzopyran-2-one that has (R)-configuration (the racemate is warfarin, an anticoagulant drug and rodenticide)." [] subset: 3_STAR synonym: "(+)-warfarin" RELATED [ChEBI] synonym: "(R)-4-Hydroxy-3-(3-oxo-1-phenylbutyl)-2-benzopyrone" RELATED [ChemIDplus] synonym: "(R)-4-Hydroxy-3-(3-oxo-1-phenylbutyl)-2H-1-benzopyran-2-one" RELATED [ChemIDplus] synonym: "4-hydroxy-3-[(1R)-3-oxo-1-phenylbutyl]-2H-1-benzopyran-2-one" EXACT IUPAC_NAME [IUPAC] synonym: "4-hydroxy-3-[(1R)-3-oxo-1-phenylbutyl]-2H-chromen-2-one" RELATED [PDBeChem] synonym: "Dextrowarfarin" RELATED [ChemIDplus] xref: CAS:5543-58-8 {source="ChemIDplus"} xref: PDBeChem:RWF xref: PMID:21949493 {source="Europe PMC"} xref: PMID:22493814 {source="Europe PMC"} xref: PMID:24962085 {source="Europe PMC"} xref: PMID:26142522 {source="Europe PMC"} xref: PMID:26161443 {source="Europe PMC"} xref: PMID:7354137 {source="Europe PMC"} xref: Reaxys:4298023 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H16O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H16O4/c1-12(20)11-15(13-7-3-2-4-8-13)17-18(21)14-9-5-6-10-16(14)23-19(17)22/h2-10,15,21H,11H2,1H3/t15-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PJVWKTKQMONHTI-OAHLLOKOSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "308.329" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "308.10486" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C1=CC=CC2=C1C(=C(C(O2)=O)[C@H](CC(C)=O)C3=CC=CC=C3)O" xsd:string [Term] id: CHEBI:87738 name: (S)-warfarin namespace: chebi_ontology alt_id: CHEBI:45816 def: "A 4-hydroxy-3-(3-oxo-1-phenylbutyl)-2H-1-benzopyran-2-one that has (S)-configuration (the racemate is warfarin, an anticoagulant drug and rodenticide)." [] subset: 3_STAR synonym: "(-)-Warfarin" RELATED [ChemIDplus] synonym: "(S)-4-Hydroxy-3-(3-oxo-1-phenylbutyl)-2-benzopyrone" RELATED [ChemIDplus] synonym: "4-hydroxy-3-[(1S)-3-oxo-1-phenylbutyl]-2H-1-benzopyran-2-one" EXACT IUPAC_NAME [IUPAC] synonym: "4-hydroxy-3-[(1S)-3-oxo-1-phenylbutyl]-2H-chromen-2-one" RELATED [PDBeChem] synonym: "levrowarfarin" RELATED [ChEBI] xref: CAS:5543-57-7 {source="ChemIDplus"} xref: LINCS:LSM-5404 xref: PDBeChem:SWF xref: PMID:21949493 {source="Europe PMC"} xref: PMID:22493814 {source="Europe PMC"} xref: PMID:24962085 {source="Europe PMC"} xref: PMID:26142522 {source="Europe PMC"} xref: PMID:26161443 {source="Europe PMC"} xref: PMID:7354137 {source="Europe PMC"} xref: Reaxys:4298024 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C19H16O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C19H16O4/c1-12(20)11-15(13-7-3-2-4-8-13)17-18(21)14-9-5-6-10-16(14)23-19(17)22/h2-10,15,21H,11H2,1H3/t15-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PJVWKTKQMONHTI-HNNXBMFYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "308.329" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "308.10486" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C1=CC=CC2=C1C(=C(C(O2)=O)[C@@H](CC(C)=O)C3=CC=CC=C3)O" xsd:string [Term] id: CHEBI:8776 name: ranitidine namespace: chebi_ontology def: "A member of the class of furans used to treat peptic ulcer disease (PUD) and gastroesophageal reflux disease." [] subset: 3_STAR synonym: "(E)-N-{2-[({5-[(dimethylamino)methyl]-2-furyl}methyl)sulfanyl]ethyl}-N'-methyl-2-nitroethene-1,1-diamine" EXACT IUPAC_NAME [IUPAC] synonym: "ranitidina" RELATED INN [ChemIDplus] synonym: "ranitidine" RELATED INN [ChemIDplus] synonym: "ranitidinum" RELATED INN [ChemIDplus] xref: Beilstein:4327819 {source="Beilstein"} xref: CAS:66357-35-5 {source="ChemIDplus"} xref: DrugBank:DB00863 xref: HMDB:HMDB0001930 xref: KEGG:D00422 xref: Patent:FR2384765 xref: Patent:US4128658 xref: PMID:18609122 {source="Europe PMC"} xref: PMID:19694603 {source="Europe PMC"} xref: Reaxys:4327819 {source="Reaxys"} xref: Wikipedia:Ranitidine is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C13H22N4O3S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C13H22N4O3S/c1-14-13(9-17(18)19)15-6-7-21-10-12-5-4-11(20-12)8-16(2)3/h4-5,9,14-15H,6-8,10H2,1-3H3/b13-9+" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VMXUWOKSQNHOCA-UKTHLTGXSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "314.40400" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "314.14126" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN\\C(NCCSCc1ccc(CN(C)C)o1)=C/[N+]([O-])=O" xsd:string [Term] id: CHEBI:88003 name: fructose 6-phosphate namespace: chebi_ontology def: "A ketohexose monophosphate consisting of fructose having a phosphate group located at the 6-position." [] subset: 3_STAR is_a: CHEBI:26020 ! phosphate [Term] id: CHEBI:88005 name: 3-phosphoglycerate(2-) namespace: chebi_ontology def: "A phosphoglycerate obtained by deprotonation of the carboxy group and one of the phosphate OH groups of 3-phosphoglyceric acid." [] subset: 3_STAR synonym: "2-hydroxy-3-[(hydroxyphosphinato)oxy]propanoate" EXACT IUPAC_NAME [IUPAC] synonym: "glycerate 3-phosphate" RELATED [ChEBI] is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C3H5O7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C3H7O7P/c4-2(3(5)6)1-10-11(7,8)9/h2,4H,1H2,(H,5,6)(H2,7,8,9)/p-2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OSJPPGNTCRNQQC-UHFFFAOYSA-L" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "184.042" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "183.97839" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "P(OCC(O)C([O-])=O)([O-])(=O)O" xsd:string [Term] id: CHEBI:88494 name: epsilon-(gamma-glutamyl)lysine namespace: chebi_ontology def: "An N(6)-acyl-L-lysine derivative in which the acyl group is specified as gamma-glutamyl." [] subset: 3_STAR synonym: "epsilon-(gamma-Glutamyl)lysine" EXACT [HMDB] synonym: "epsilon-(gamma-L-Glutamyl)-L-lysine" RELATED [HMDB] synonym: "epsilon-(L-gamma-glutamyl)-L-lysine" RELATED [ChEBI] synonym: "gamma-Glu-epsilon-Lys" RELATED [ChEBI] synonym: "gamma-glutamyl-epsilon-lysine" RELATED [ChEBI] synonym: "L-gamma-glutamyl-L-epsilon-lysine" RELATED [ChEBI] synonym: "N(6)-L-gamma-Glutamyl-L-lysine" RELATED [HMDB] synonym: "N(6)-L-gamma-glutamyl-L-lysine" EXACT IUPAC_NAME [IUPAC] synonym: "N(epsilon)-(gamma-Glutamyl)-lysine" RELATED [HMDB] xref: CAS:17105-15-6 {source="ChemIDplus"} xref: HMDB:HMDB0003869 xref: Reaxys:6583819 {source="Reaxys"} is_a: EFO:0004416 ! acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C11H21N3O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C11H21N3O5/c12-7(10(16)17)3-1-2-6-14-9(15)5-4-8(13)11(18)19/h7-8H,1-6,12-13H2,(H,14,15)(H,16,17)(H,18,19)/t7-,8-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JPKNLFVGUZRHOB-YUMQZZPRSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "275.302" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "275.14812" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O=C(CC[C@H](N)C(O)=O)NCCCC[C@H](N)C(O)=O" xsd:string [Term] id: CHEBI:88670 name: Dihomo-linoleate (20:2n6) namespace: chebi_ontology subset: 2_STAR synonym: "(2E,4E)-icosa-2,4-dienoic acid" RELATED [HMDB] synonym: "Dihomo-linoleate (20:2N6)" EXACT [HMDB] synonym: "Dihomo-linoleic acid (20:2N6)" RELATED [HMDB] xref: HMDB:HMDB0061864 xref: PMID:22308371 {source="Europe PMC"} xref: PMID:23839040 {source="Europe PMC"} xref: PMID:23974102 {source="Europe PMC"} is_a: CHEBI:35366 ! fatty acid property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H35O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H36O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H36O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-18-19-20(21)22/h16-19H,2-15H2,1H3,(H,21,22)/p-1/b17-16+,19-18+" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LNAVIIOBBICBIS-NBRVCOCJSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "307.491" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "307.26425" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCCCCCCCCCCCC/C(=C(/C(=C(/C(=O)[O-])\\[H])/[H])\\[H])/[H]" xsd:string [Term] id: CHEBI:8871 name: risperidone namespace: chebi_ontology def: "A member of the class of pyridopyrimidines that is 2-methyl-6,7,8,9-tetrahydropyrido[1,2-a]pyrimidin-4-one carrying an additional 2-[4-(6-fluoro-1,2-benzoxazol-3-yl)piperidin-1-yl]ethyl group at position 2." [] subset: 3_STAR synonym: "3-{2-[4-(6-fluoro-1,2-benzisoxazol-3-yl)piperidin-1-yl]ethyl}-2-methyl-6,7,8,9-tetrahydro-4H-pyrido[1,2-a]pyrimidin-4-one" EXACT IUPAC_NAME [IUPAC] synonym: "Risperdal" RELATED BRAND_NAME [KEGG_DRUG] synonym: "risperidona" RELATED INN [ChemIDplus] synonym: "risperidone" EXACT [IUPHAR] synonym: "risperidone" RELATED INN [WHO_MedNet] synonym: "risperidone" RELATED INN [KEGG_DRUG] synonym: "risperidonum" RELATED INN [ChemIDplus] synonym: "Risperin" RELATED BRAND_NAME [DrugBank] synonym: "Rispolept" RELATED BRAND_NAME [DrugBank] synonym: "Rispolin" RELATED BRAND_NAME [DrugBank] synonym: "Sequinan" RELATED BRAND_NAME [DrugBank] xref: Beilstein:4891881 {source="Beilstein"} xref: CAS:106266-06-2 {source="ChemIDplus"} xref: CAS:106266-06-2 {source="KEGG DRUG"} xref: ChemIDplus:106266-06-2 xref: Drug_Central:2389 {source="DrugCentral"} xref: DrugBank:DB00734 xref: HMDB:HMDB0005020 xref: KEGG DRUG:106266-06-2 xref: KEGG DRUG:D00426 xref: KEGG:D00426 xref: LINCS:LSM-3193 xref: MeSH:D018967 xref: NCIt:C29416 xref: Patent:EP196132 xref: Patent:US4804663 xref: PMID:11229618 {source="Europe PMC"} xref: PMID:11476125 {source="Europe PMC"} xref: PMID:14687852 {source="Europe PMC"} xref: PMID:14728058 {source="Europe PMC"} xref: PMID:15096074 {source="Europe PMC"} xref: PMID:17054229 {source="Europe PMC"} xref: PMID:18545060 {source="Europe PMC"} xref: PMID:18722468 {source="Europe PMC"} xref: PMID:19412457 {source="Europe PMC"} xref: PMID:20825390 {source="Europe PMC"} xref: PMID:23327578 {source="Europe PMC"} xref: Reaxys:4891881 {source="Reaxys"} xref: SNOMEDCT:108386000 xref: SNOMEDCT:386840002 xref: Wikipedia:Risperidone is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:35476 ! antipsychotic agent relationship: has_role CHEBI:37890 ! alpha-adrenergic antagonist relationship: has_role CHEBI:48279 ! serotonergic antagonist property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C23H27FN4O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C23H27FN4O2/c1-15-18(23(29)28-10-3-2-4-21(28)25-15)9-13-27-11-7-16(8-12-27)22-19-6-5-17(24)14-20(19)30-26-22/h5-6,14,16H,2-4,7-13H2,1H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RAPZEAPATHNIPO-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "410.48450" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "410.21180" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cc1nc2CCCCn2c(=O)c1CCN1CCC(CC1)c1noc2cc(F)ccc12" xsd:string [Term] id: CHEBI:88758 name: CE(14:1(9Z)) namespace: chebi_ontology subset: 2_STAR synonym: "(2R,5S,15R)-2,15-dimethyl-14-[(2R)-6-methylheptan-2-yl]tetracyclo[8.7.0.0^{2,7}.0^{11,15}]heptadec-7-en-5-yl (9Z)-tetradec-9-enoate" RELATED [HMDB] synonym: "1-Myristoleoyl-cholesterol" RELATED [HMDB] synonym: "14:1(9Z) Cholesterol ester" RELATED [HMDB] synonym: "CE(14:1)" RELATED [HMDB] synonym: "CE(14:1/0:0)" RELATED [HMDB] synonym: "CE(14:1n5/0:0)" RELATED [HMDB] synonym: "CE(14:1w5/0:0)" RELATED [HMDB] synonym: "Cholesterol 1-(9Z-tetradecenoate" RELATED [HMDB] synonym: "Cholesterol 1-(9Z-tetradecenoate)" RELATED [HMDB] synonym: "Cholesterol 1-(9Z-tetradecenoic acid" RELATED [HMDB] synonym: "Cholesterol 1-(9Z-tetradecenoic acid)" RELATED [HMDB] synonym: "Cholesterol 1-myristoleoate" RELATED [HMDB] synonym: "Cholesterol 1-myristoleoic acid" RELATED [HMDB] synonym: "Cholesterol Ester(14:1)" RELATED [HMDB] synonym: "Cholesterol Ester(14:1/0:0)" RELATED [HMDB] synonym: "Cholesterol Ester(14:1n5/0:0)" RELATED [HMDB] synonym: "Cholesterol Ester(14:1w5/0:0)" RELATED [HMDB] synonym: "Cholesteryl 1-(9Z-tetradecenoate" RELATED [HMDB] synonym: "Cholesteryl 1-(9Z-tetradecenoate)" RELATED [HMDB] synonym: "Cholesteryl 1-(9Z-tetradecenoic acid" RELATED [HMDB] synonym: "Cholesteryl 1-(9Z-tetradecenoic acid)" RELATED [HMDB] synonym: "Cholesteryl 1-myristoleoate" RELATED [HMDB] synonym: "Cholesteryl 1-myristoleoic acid" RELATED [HMDB] xref: HMDB:HMDB0010367 xref: PMID:21359215 {source="Europe PMC"} is_a: CHEBI:17002 ! cholesteryl ester property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C41H70O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C41H70O2/c1-7-8-9-10-11-12-13-14-15-16-17-21-39(42)43-34-26-28-40(5)33(30-34)22-23-35-37-25-24-36(32(4)20-18-19-31(2)3)41(37,6)29-27-38(35)40/h10-11,22,31-32,34-38H,7-9,12-21,23-30H2,1-6H3/b11-10-/t32-,34+,35?,36?,37?,38?,40+,41-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "LAMGDJMPDNVWTB-GUIVWMAFSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "594.995" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "594.53758" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O([C@@H]1CC=2[C@@](C3C(C4[C@@](C(CC4)[C@@H](CCCC(C)C)C)(CC3)C)CC2)(CC1)C)C(CCCCCCC/C=C\\CCCC)=O" xsd:string [Term] id: CHEBI:88765 name: Pregnanediol-3-glucuronide namespace: chebi_ontology subset: 2_STAR synonym: "(2S,3S,4S,5R,6R)-3,4,5-trihydroxy-6-{[(1S,2S,5R,7R,10R,11S,14S,15S)-14-[(1S)-1-hydroxyethyl]-2,15-dimethyltetracyclo[8.7.0.0^{2,7}.0^{11,15}]heptadecan-5-yl]oxy}oxane-2-carboxylic acid" RELATED [HMDB] xref: HMDB:HMDB0010318 xref: MetaCyc:Beta-D-Glucuronides xref: PMID:9851755 {source="Europe PMC"} is_a: CHEBI:35341 ! steroid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C27H44O8" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C27H44O8/c1-13(28)17-6-7-18-16-5-4-14-12-15(8-10-26(14,2)19(16)9-11-27(17,18)3)34-25-22(31)20(29)21(30)23(35-25)24(32)33/h13-23,25,28-31H,4-12H2,1-3H3,(H,32,33)/t13-,14+,15+,16-,17+,18-,19-,20-,21-,22+,23-,25+,26-,27+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ZFFFJLDTCLJDHL-JQYCEVDMSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "496.635" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "496.30362" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O([C@H]1C[C@@]2([C@@]([C@@]3([C@]([C@]4([C@@]([C@](CC4)([C@@H](O)C)[H])(CC3)C)[H])(CC2)[H])[H])(CC1)C)[H])[C@@H]5O[C@@H]([C@@H](O)[C@H](O)[C@H]5O)C(O)=O" xsd:string [Term] id: CHEBI:88768 name: (11Z-octadecenoyl)-cholesterol namespace: chebi_ontology def: "A cholesteryl octadecenoate in which the acy group is specified as (11Z)-octadec-11-enoyl." [] subset: 3_STAR synonym: "(11Z)-octadec-11-enoyl-cholesterol" RELATED [ChEBI] synonym: "(11Z-octadecenoyl)-cholesterol" EXACT [ChEBI] synonym: "(1R,3aS,3bS,7S,9aR,9bS,11aR)-9a,11a-dimethyl-1-[(2R)-6-methylheptan-2-yl]-2,3,3a,3b,4,6,7,8,9,9a,9b,10,11,11a-tetradecahydro-1H-cyclopenta[a]phenanthren-7-yl (11Z)-octadec-11-enoate" RELATED [IUPAC] synonym: "(cis-vaccenoyl)-cholesterol" RELATED [ChEBI] synonym: "1-cis-vaccenoyl-cholesterol" RELATED [HMDB] synonym: "18:1(11Z) cholesterol ester" RELATED [HMDB] synonym: "CE 18:1 (11Z)" RELATED [ChEBI] synonym: "CE(18:1(11Z))" RELATED [ChEBI] synonym: "cholest-5-en-3beta-yl (11Z)-octadec-11-enoate" EXACT IUPAC_NAME [IUPAC] synonym: "cholest-5-en-3beta-yl (11Z-octadecenoate)" RELATED [HMDB] synonym: "cholesterol 1-(11Z-octadecenoate)" RELATED [HMDB] synonym: "cholesterol 1-(11Z-octadecenoic acid)" RELATED [HMDB] synonym: "cholesteryl (11Z)-octadecenoate" RELATED [UniProt] synonym: "cholesteryl (11Z-octadecenoate)" RELATED [ChEBI] synonym: "cholesteryl 1-(11Z-octadecenoate)" RELATED [HMDB] synonym: "cholesteryl 1-(11Z-octadecenoic acid)" RELATED [HMDB] synonym: "cholesteryl ester (18:1(11Z))" RELATED [ChEBI] xref: Chemspider:58191508 xref: HMDB:HMDB0005189 xref: PMID:21359215 xref: PMID:28417305 {source="Europe PMC"} is_a: CHEBI:17002 ! cholesteryl ester property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C45H78O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C45H78O2/c1-7-8-9-10-11-12-13-14-15-16-17-18-19-20-21-25-43(46)47-38-30-32-44(5)37(34-38)26-27-39-41-29-28-40(36(4)24-22-23-35(2)3)45(41,6)33-31-42(39)44/h12-13,26,35-36,38-42H,7-11,14-25,27-34H2,1-6H3/b13-12-/t36-,38+,39+,40-,41+,42+,44+,45-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BNQAKMBVXYXXED-FZDLOJSVSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "651.117" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "650.60018" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]1(CC[C@@]2([H])[C@]3([H])CC=C4C[C@H](CC[C@]4(C)[C@@]3([H])CC[C@]12C)OC(=O)CCCCCCCCC\\C=C/CCCCCC)[C@H](C)CCCC(C)C" xsd:string [Term] id: CHEBI:8887 name: rofecoxib namespace: chebi_ontology def: "A butenolide that is furan-2(5H)-one substituted by a phenyl group at position 3 and by a p-(methylsulfonyl)phenyl group at position 4. A selective cyclooxygenase 2 inhibitor, it was used from 1999 to 2004 for the treatment of ostoarthritis, but was withdrawn following concerns about an associated increased risk of heart attack and stroke." [] subset: 3_STAR synonym: "3-phenyl-4-[4-(methylsulfonyl)phenyl]-2(5H)-furanone" RELATED [ChemIDplus] synonym: "4-[4-(methylsulfonyl)phenyl]-3-phenyl-2(5H)-furanone" RELATED [ChemIDplus] synonym: "4-[4-(methylsulfonyl)phenyl]-3-phenylfuran-2(5H)-one" EXACT IUPAC_NAME [IUPAC] synonym: "Ceoxx" RELATED [ChemIDplus] synonym: "Rofecoxib" EXACT [KEGG_COMPOUND] synonym: "rofecoxib" RELATED INN [WHO_MedNet] synonym: "rofecoxibum" RELATED INN [WHO_MedNet] synonym: "Vioxx" RELATED [ChemIDplus] xref: Beilstein:8269007 {source="Beilstein"} xref: CAS:162011-90-7 {source="KEGG COMPOUND"} xref: CAS:162011-90-7 {source="ChemIDplus"} xref: Drug_Central:2397 {source="DrugCentral"} xref: DrugBank:DB00533 xref: KEGG:C07590 xref: KEGG:D00568 xref: LINCS:LSM-2482 xref: MeSH:C116926 xref: NCIt:C1832 xref: PMID:10859630 {source="Europe PMC"} xref: PMID:11014111 {source="Europe PMC"} xref: PMID:12069696 {source="Europe PMC"} xref: PMID:16934051 {source="Europe PMC"} xref: PMID:20162413 {source="Europe PMC"} xref: PMID:28166217 {source="Europe PMC"} xref: Reaxys:8269007 {source="Reaxys"} xref: SNOMEDCT:116095002 xref: SNOMEDCT:387008005 xref: Wikipedia:Rofecoxib is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C17H14O4S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C17H14O4S/c1-22(19,20)14-9-7-12(8-10-14)15-11-21-17(18)16(15)13-5-3-2-4-6-13/h2-10H,11H2,1H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RZJQGNCSTQAWON-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "314.35600" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "314.06128" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CS(=O)(=O)c1ccc(cc1)C1=C(C(=O)OC1)c1ccccc1" xsd:string [Term] id: CHEBI:88956 name: pyroglutamylglutamine namespace: chebi_ontology def: "A dpeptide obtained by formal condensation of the carboxy group of L-pyroglutamine with the amino group of L-glutamine" [] subset: 3_STAR synonym: "5-oxo-L-prolyl-L-glutamine" EXACT IUPAC_NAME [IUPAC] synonym: "5-oxoprolylglutamine" RELATED [ChEBI] synonym: "L-p-Glu-L-Gln" RELATED [ChEBI] synonym: "L-pyroglutamyl-L-glutamine" RELATED [ChEBI] synonym: "p-Glu-Gln" RELATED [ChEBI] synonym: "Pyro-L-glutaminyl-L-glutamine" RELATED [HMDB] xref: HMDB:HMDB0039229 xref: PMID:21737939 {source="Europe PMC"} xref: PMID:22308371 {source="Europe PMC"} xref: PMID:8370638 {source="Europe PMC"} xref: Reaxys:90754 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H15N3O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H15N3O5/c11-7(14)3-1-6(10(17)18)13-9(16)5-2-4-8(15)12-5/h5-6H,1-4H2,(H2,11,14)(H,12,15)(H,13,16)(H,17,18)/t5-,6-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ILAITOFTZJRIFJ-WDSKDSINSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "257.244" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "257.10117" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C([C@H]1NC(CC1)=O)(=O)N[C@H](C(O)=O)CCC(=O)N" xsd:string [Term] id: CHEBI:89087 name: cotinine N-oxide namespace: chebi_ontology def: "An N-alkylpyrrolidine that is nicotine in which the methylene hydrogens at position 2 on the pyrrolidine ring have been replaced by an oxo group and the pyridine nitrogen converted into the corresponding N-oxide. A minor metabolite of nicotine." [] subset: 3_STAR synonym: "(-)-cotinine N-oxide" RELATED [ChEBI] synonym: "(5S)-1-methyl-5-(1-oxido-3-pyridinyl)-2-pyrrolidinone" RELATED [HMDB] synonym: "(5S)-1-methyl-5-(1-oxo-1lambda(5)-pyridin-3-yl)pyrrolidin-2-one" EXACT IUPAC_NAME [IUPAC] synonym: "(S)-1-methyl-5-(1-oxido-3-pyridinyl)-2-Pyrrolidinone" RELATED [HMDB] synonym: "(S)-1-methyl-5-(3-pyridinyl)-2-Pyrrolidinone N-oxide" RELATED [HMDB] synonym: "3-[(2S)-1-methyl-5-oxopyrrolidin-2-yl]pyridin-1-ium-1-olate" RELATED [HMDB] synonym: "Cotinine-N-oxide" RELATED [HMDB] xref: CAS:36508-80-2 {source="ChemIDplus"} xref: HMDB:HMDB0001411 xref: MetaCyc:CPD-3185 xref: PMID:1478978 {source="Europe PMC"} xref: PMID:15109883 {source="Europe PMC"} xref: PMID:1521032 {source="Europe PMC"} xref: PMID:15472033 {source="Europe PMC"} xref: PMID:16359169 {source="Europe PMC"} xref: PMID:17640086 {source="Europe PMC"} xref: PMID:19065315 {source="Europe PMC"} xref: PMID:19466395 {source="Europe PMC"} xref: PMID:20097626 {source="Europe PMC"} xref: PMID:20301889 {source="Europe PMC"} xref: PMID:20822672 {source="Europe PMC"} xref: PMID:20980010 {source="Europe PMC"} xref: PMID:21452992 {source="Europe PMC"} xref: PMID:21719221 {source="Europe PMC"} xref: PMID:23022114 {source="Europe PMC"} xref: PMID:23318728 {source="Europe PMC"} xref: PMID:23737496 {source="Europe PMC"} xref: PMID:23983622 {source="Europe PMC"} xref: PMID:24755743 {source="Europe PMC"} xref: PMID:24968308 {source="Europe PMC"} xref: PMID:25013964 {source="Europe PMC"} xref: PMID:25304849 {source="Europe PMC"} xref: PMID:26721601 {source="Europe PMC"} xref: PMID:27480511 {source="Europe PMC"} xref: PMID:3443673 {source="Europe PMC"} xref: PMID:4625531 {source="Europe PMC"} xref: PMID:8294547 {source="Europe PMC"} xref: Reaxys:6479802 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C10H12N2O2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C10H12N2O2/c1-11-9(4-5-10(11)13)8-3-2-6-12(14)7-8/h2-3,6-7,9H,4-5H2,1H3/t9-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CIPULDKLIIVIER-VIFPVBQESA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "192.215" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "192.08988" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN1[C@@](CCC1=O)(C2=C[N+](=CC=C2)[O-])[H]" xsd:string [Term] id: CHEBI:89118 name: 5-hydroxymethyl-2-furoic acid namespace: chebi_ontology def: "A member of the class of furoic acids that is 2-furoic acid substituted at position 5 by a hydroxymethyl group." [] subset: 3_STAR synonym: "5-(Hydroxymethyl)-2-furoic acid" RELATED [HMDB] synonym: "5-(hydroxymethyl)furan-2-carboxylic acid" EXACT IUPAC_NAME [IUPAC] synonym: "5-Hydroxymethyl-2-furancarboxylic acid" RELATED [HMDB] synonym: "5-Hydroxymethyl-furan-2-carboxylic acid" RELATED [HMDB] synonym: "5-Hydroxymethylfuran-2-carboxylic acid" RELATED [HMDB] synonym: "5-Hydroxymethylfuranoic acid" RELATED [HMDB] synonym: "5-Hydroxymethylfuroic acid" RELATED [HMDB] synonym: "Sumiki's acid" RELATED [HMDB] xref: CAS:6338-41-6 {source="ChemIDplus"} xref: CAS:6338-41-6 {source="KEGG COMPOUND"} xref: HMDB:HMDB0002432 xref: KEGG:C20448 xref: MetaCyc:CPD-14103 xref: PMID:14598209 {source="Europe PMC"} xref: PMID:17357981 {source="Europe PMC"} xref: PMID:17542490 {source="Europe PMC"} xref: PMID:25186182 {source="Europe PMC"} xref: PMID:26328874 {source="Europe PMC"} xref: PMID:949837 {source="Europe PMC"} xref: Reaxys:121784 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound is_a: EFO:0004416 ! acid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H6O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H6O4/c7-3-4-1-2-5(10-4)6(8)9/h1-2,7H,3H2,(H,8,9)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PCSKKIUURRTAEM-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "142.110" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "142.02661" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OCC=1OC(C(O)=O)=CC1" xsd:string [Term] id: CHEBI:89379 name: gamma-CEHC namespace: chebi_ontology subset: 2_STAR synonym: "2,7,8-trimethyl-2-(2'-carboxyethyl)-6-hydroxychromane" RELATED [ChEBI] synonym: "2,7,8-trimethyl-2-(beta-carboxyethyl)-6-hydroxychromane" RELATED [ChemIDplus] synonym: "3,4-dihydro-6-hydroxy-2,7,8-trimethyl-2H-1-benzopyran-2-propanoic acid" RELATED [ChEBI] synonym: "3-(2,7,8-trimethyl-3,4-dihydro-2H-1-benzopyran-2-yl)propanoic acid" RELATED [HMDB] synonym: "3-(2,7,8-trimethyl-chroman-2-yl)-propionic acid" RELATED [ChEBI] synonym: "3-(6-hydroxy-2,7,8-trimethyl-3,4-dihydro-2H-1-benzopyran-2-yl)propanoic acid" RELATED [IUPAC] synonym: "3-(6-hydroxy-2,7,8-trimethyl-3,4-dihydro-2H-chromen-2-yl)propanoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "gamma-CEHC" EXACT [HMDB] xref: CAS:178167-77-6 {source="ChemIDplus"} xref: FooDB:FDB022748 xref: HMDB:HMDB0001931 xref: Patent:EP1199075 xref: PMID:11005841 {source="Europe PMC"} xref: PMID:11722951 {source="Europe PMC"} xref: PMID:11841923 {source="Europe PMC"} xref: PMID:12111049 {source="Europe PMC"} xref: PMID:12627176 {source="Europe PMC"} xref: PMID:12730299 {source="Europe PMC"} xref: PMID:15386582 {source="Europe PMC"} xref: PMID:15493460 {source="Europe PMC"} xref: PMID:15721988 {source="Europe PMC"} xref: PMID:17934245 {source="Europe PMC"} xref: PMID:19250920 {source="Europe PMC"} xref: PMID:9262326 {source="Europe PMC"} is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C15H20O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C15H20O4/c1-9-10(2)14-11(8-12(9)16)4-6-15(3,19-14)7-5-13(17)18/h8,16H,4-7H2,1-3H3,(H,17,18)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VMJQLPNCUPGMNQ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "264.321" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "264.13616" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O1C(CCC=2C1=C(C(=C(C2)O)C)C)(CCC(=O)O)C" xsd:string [Term] id: CHEBI:89454 name: 17alpha-hydroxypregnenolone 3-sulfate namespace: chebi_ontology def: "A steroid sulfate that is 17alpha-hydroxypregnenolone in which the hydroxy hydrogen at position 3 has been replaced by a sulfo group." [] subset: 3_STAR synonym: "(3beta)-17-hydroxy-20-oxopregn-5-en-3-yl hydrogen sulfate" RELATED [IUPAC] synonym: "17-hydroxy-20-oxopregn-5-en-3beta-yl hydrogen sulfate" EXACT IUPAC_NAME [IUPAC] synonym: "17-Hydroxy-pregnenolone sulfate" RELATED [HMDB] synonym: "17-Hydroxy-pregnenolone sulphate" RELATED [HMDB] synonym: "17-hydroxypregnenolone 3-sulfate" RELATED [HMDB] synonym: "17-Hydroxypregnenolone 3-sulphate" RELATED [HMDB] synonym: "17-Hydroxypregnenolone sulfate" RELATED [LIPID_MAPS] synonym: "17-Hydroxypregnenolone sulphate" RELATED [HMDB] synonym: "17alpha-Hydroxypregnenolone sulfate" RELATED [ChemIDplus] xref: CAS:28901-70-4 {source="ChemIDplus"} xref: FooDB:FDB022032 xref: HMDB:HMDB0000416 xref: LIPID_MAPS_instance:LMST05020021 {source="LIPID MAPS"} xref: PMID:12642469 {source="Europe PMC"} xref: PMID:12829005 {source="Europe PMC"} xref: PMID:14163950 {source="Europe PMC"} xref: PMID:14264252 {source="Europe PMC"} xref: PMID:14625002 {source="Europe PMC"} xref: PMID:17298837 {source="Europe PMC"} xref: PMID:26239050 {source="Europe PMC"} xref: PMID:28472487 {source="Europe PMC"} xref: PMID:3208699 {source="Europe PMC"} xref: PMID:3260857 {source="Europe PMC"} xref: PMID:34324429 {source="Europe PMC"} xref: PMID:4054406 {source="Europe PMC"} xref: PMID:4076471 {source="Europe PMC"} xref: Reaxys:5774387 {source="Reaxys"} is_a: CHEBI:35341 ! steroid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C21H32O6S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C21H32O6S/c1-13(22)21(23)11-8-18-16-5-4-14-12-15(27-28(24,25)26)6-9-19(14,2)17(16)7-10-20(18,21)3/h4,15-18,23H,5-12H2,1-3H3,(H,24,25,26)/t15-,16+,17-,18-,19-,20-,21-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "OMOKWYAQVYBHMG-TVWVXWENSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "412.542" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "412.19196" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C1[C@@]2([C@]3(CC[C@]4(C)[C@](CC[C@]4([C@@]3(CC=C2C[C@H](C1)OS(O)(=O)=O)[H])[H])(C(C)=O)O)[H])C" xsd:string [Term] id: CHEBI:89836 name: propionylglycine namespace: chebi_ontology def: "A N-acylglycine obtained by formal condensation of the carboxy group of propionic acid with the amino group of glycine." [] subset: 3_STAR synonym: "2-propanamidoacetic acid" RELATED [HMDB] synonym: "N-propanoylglycine" EXACT IUPAC_NAME [IUPAC] synonym: "N-Propionyl-Glycine" RELATED [HMDB] synonym: "N-Propionylglycine" RELATED [HMDB] synonym: "propanamidoacetic acid" RELATED [IUPAC] synonym: "propanoylglycine" RELATED [ChEBI] synonym: "propionylaminoacetic acid" RELATED [ChEBI] xref: CAS:21709-90-0 {source="ChemIDplus"} xref: HMDB:HMDB0000783 xref: PMID:15069406 {source="Europe PMC"} xref: PMID:5033805 {source="Europe PMC"} xref: PMID:7313494 {source="Europe PMC"} xref: Reaxys:1759032 {source="Reaxys"} is_a: EFO:0004417 ! amide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C5H9NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C5H9NO3/c1-2-4(7)6-3-5(8)9/h2-3H2,1H3,(H,6,7)(H,8,9)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WOMAZEJKVZLLFE-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "131.130" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "131.05824" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(CNC(=O)CC)(=O)O" xsd:string [Term] id: CHEBI:89963 name: butyrylglycine namespace: chebi_ontology def: "A N-acylglycine obtained by formal condensation of the carboxy group of butyric acid with the amino group of glycine." [] subset: 3_STAR synonym: "2-butanamidoacetic acid" RELATED [HMDB] synonym: "2-butyramidoacetic acid" RELATED [ChEBI] synonym: "butanamidoacetic acid" RELATED [ChEBI] synonym: "butyramidoacetic acid" RELATED [ChEBI] synonym: "N-(1-Oxobutyl)glycine" RELATED [HMDB] synonym: "N-butanoylglycine" EXACT IUPAC_NAME [IUPAC] synonym: "N-Butyryl-Glycine" RELATED [HMDB] synonym: "N-Butyrylglycine" RELATED [ChemIDplus] xref: CAS:20208-73-5 {source="ChemIDplus"} xref: HMDB:HMDB0000808 xref: PMID:10404733 {source="Europe PMC"} xref: PMID:7815229 {source="Europe PMC"} xref: PMID:8548022 {source="Europe PMC"} xref: PMID:9932958 {source="Europe PMC"} xref: Reaxys:1766058 {source="Reaxys"} is_a: EFO:0004417 ! amide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H11NO3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H11NO3/c1-2-3-5(8)7-4-6(9)10/h2-4H2,1H3,(H,7,8)(H,9,10)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "WPSSBBPLVMTKRN-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "145.157" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "145.07389" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(CNC(=O)CCC)(=O)O" xsd:string [Term] id: CHEBI:9008 name: salicyluric acid namespace: chebi_ontology def: "An N-acylglycine in which the acyl group is specified as 2-hydroxybenzoyl." [] subset: 3_STAR synonym: "(2-hydroxybenzamido)acetic acid" EXACT IUPAC_NAME [IUPAC] synonym: "N-(2-Hydroxybenzoyl)-glycine" RELATED [KEGG_COMPOUND] synonym: "N-(2-hydroxybenzoyl)glycine" EXACT IUPAC_NAME [IUPAC] synonym: "N-Salicyloylglycine" RELATED [ChemIDplus] synonym: "o-Hydroxyhippuric acid" RELATED [ChemIDplus] synonym: "Salicyloylglycine" RELATED [ChemIDplus] synonym: "Salicylurate" RELATED [KEGG_COMPOUND] synonym: "Salicyluric acid" EXACT [KEGG_COMPOUND] xref: CAS:487-54-7 {source="ChemIDplus"} xref: CAS:487-54-7 {source="KEGG COMPOUND"} xref: HMDB:HMDB0000840 xref: KEGG:C07588 xref: PMID:1686904 {source="Europe PMC"} xref: PMID:2079643 {source="Europe PMC"} xref: PMID:22770225 {source="Europe PMC"} xref: PMID:2605706 {source="Europe PMC"} xref: PMID:2630630 {source="Europe PMC"} xref: PMID:3216284 {source="Europe PMC"} xref: PMID:3385604 {source="Europe PMC"} xref: PMID:3805574 {source="Europe PMC"} xref: PMID:6101164 {source="Europe PMC"} xref: PMID:7074905 {source="Europe PMC"} xref: PMID:947617 {source="Europe PMC"} xref: Reaxys:2213833 {source="Reaxys"} xref: Wikipedia:Salicyluric_acid is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H9NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H9NO4/c11-7-4-2-1-3-6(7)9(14)10-5-8(12)13/h1-4,11H,5H2,(H,10,14)(H,12,13)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ONJSZLXSECQROL-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "195.17210" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "195.05316" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)CNC(=O)c1ccccc1O" xsd:string [Term] id: CHEBI:9011 name: salmeterol namespace: chebi_ontology def: "A racemate consisting of equal parts of (R)- and (S)-salmeterol. It is a potent and selective beta2-adrenoceptor agonist (EC50 = 5.3 nM). Unlike other beta2 agonists, it binds to the exo-site domain of beta2 receptors, producing a slow onset of action and prolonged activation." [] subset: 3_STAR synonym: "(+-)-4-hydroxy-alpha(1)-[[[6-(4-phenylbutoxy)hexyl]amino]methyl]-m-xylene-alpha,alpha(1)-diol" RELATED [ChEBI] synonym: "(+-)-salmeterol" RELATED [ChEBI] synonym: "(RS)-4-hydroxy-alpha(1)-({[6-(4-phenylbutoxy)hexyl]amino}methyl)-1,3-benzenedimethanol" RELATED [ChEBI] synonym: "(RS)-salmeterol" RELATED [ChEBI] synonym: "Salmeterol" EXACT [KEGG_COMPOUND] synonym: "salmeterol" RELATED INN [ChemIDplus] synonym: "salmeterol" RELATED INN [WHO_MedNet] synonym: "salmeterolum" RELATED INN [ChemIDplus] xref: CAS:89365-50-4 {source="KEGG COMPOUND"} xref: CAS:89365-50-4 {source="ChemIDplus"} xref: ChemIDplus:89365-50-4 xref: CiteXplore:22192967 xref: CiteXplore:22231554 xref: CiteXplore:22235841 xref: CiteXplore:22245487 xref: DrugBank:DB00938 xref: HMDB:HMDB0015073 xref: KEGG COMPOUND:89365-50-4 xref: KEGG COMPOUND:C07241 xref: KEGG DRUG:D05792 xref: KEGG:C07241 xref: KEGG:D05792 xref: MeSH:C057823 xref: NCIt:C29443 xref: Patent:DE3414752 xref: Patent:US4992474 xref: PMID:22192967 {source="Europe PMC"} xref: PMID:22231554 {source="Europe PMC"} xref: PMID:22235841 {source="Europe PMC"} xref: PMID:22245487 {source="Europe PMC"} xref: SNOMEDCT:108605008 xref: SNOMEDCT:372515005 xref: Wikipedia:Salmeterol is_a: CHEBI:24431 ! chemical entity relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C25H37NO4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "415.56560" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "415.27226" xsd:string [Term] id: CHEBI:90242 name: caffeic acid 3-sulfate namespace: chebi_ontology def: "An aryl sulfate that is trans-caffeic acid in which the phenolic hydrogen at position 3 is replaced by a sulfo group. A metabolite from coffee." [] subset: 3_STAR synonym: "(2E)-3-[4-hydroxy-3-(sulfooxy)phenyl]prop-2-enoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "caffeic acid 3'-O-sulfate" RELATED [ChEBI] synonym: "caffeic acid 3'-sulfate" RELATED [ChEBI] synonym: "caffeic acid 3-O-sulfate" RELATED [ChEBI] synonym: "caffeic acid 3-sulphate" RELATED [ChEBI] xref: HMDB:HMDB0041706 xref: PMID:19460943 {source="Europe PMC"} xref: PMID:20842300 {source="Europe PMC"} xref: PMID:21481558 {source="Europe PMC"} xref: PMID:21676405 {source="Europe PMC"} xref: PMID:23157164 {source="Europe PMC"} xref: Reaxys:6603942 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C9H8O7S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C9H8O7S/c10-7-3-1-6(2-4-9(11)12)5-8(7)16-17(13,14)15/h1-5,10H,(H,11,12)(H,13,14,15)/b4-2+" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VWQNTRNACRFUCQ-DUXPYHPUSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "260.222" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "259.99907" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O(C=1C=C(/C=C/C(O)=O)C=CC1O)S(O)(=O)=O" xsd:string [Term] id: CHEBI:90297 name: triacylglycerol 44:1 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 44 carbons and 1 double bond." [] subset: 3_STAR synonym: "TAG(44:1)" RELATED [ChEBI] synonym: "TG(44:1)" RELATED [ChEBI] synonym: "triacylglycerol(44:1)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C47H88O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "749.1980" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "748.65809" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(C(OC(*)=O)COC(=O)*)OC(=O)*" xsd:string [Term] id: CHEBI:90301 name: triacylglycerol 50:5 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 50 carbons and 5 double bonds." [] subset: 3_STAR synonym: "TAG(50:5)" RELATED [ChEBI] synonym: "TG(50:5)" RELATED [ChEBI] synonym: "triacylglycerol(50:5)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C53H92O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "825.2940" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "824.68939" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(C(OC(*)=O)COC(=O)*)OC(=O)*" xsd:string [Term] id: CHEBI:90302 name: triacylglycerol 52:1 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 52 carbons and 1 double bond." [] subset: 3_STAR synonym: "TAG(52:1)" RELATED [ChEBI] synonym: "TG(52:1)" RELATED [ChEBI] synonym: "triacylglycerol(52:1)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C55H104O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "861.4107" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "860.78329" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(C(OC(*)=O)COC(=O)*)OC(=O)*" xsd:string [Term] id: CHEBI:90305 name: triacylglycerol 54:1 namespace: chebi_ontology def: "A triglyceride in which the three acyl groups contain a total of 54 carbons and 1 double bond." [] subset: 3_STAR synonym: "TAG(54:1)" RELATED [ChEBI] synonym: "TG(54:1)" RELATED [ChEBI] synonym: "triacylglycerol(54:1)" RELATED [ChEBI] is_a: CHEBI:17855 ! triglyceride property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C57H108O6" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "889.4638" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "888.81459" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "C(C(OC(*)=O)COC(=O)*)OC(=O)*" xsd:string [Term] id: CHEBI:90344 name: N-methylproline namespace: chebi_ontology def: "An L-proline derivative obtained by replacement of the amino hydrogen by a methyl group." [] subset: 3_STAR synonym: "(-)-N-methyl-L-proline" RELATED [KNApSAcK] synonym: "(2S)-1-methylpyrrolidine-2-carboxylic acid" RELATED [PDBeChem] synonym: "1-methyl-L-proline" EXACT IUPAC_NAME [IUPAC] synonym: "1-methylproline" EXACT IUPAC_NAME [IUPAC] synonym: "N-methyl-L-proline" RELATED [ChEBI] xref: CAS:475-11-6 {source="KNApSAcK"} xref: KNApSAcK:C00034881 xref: MetaCyc:CPD-904 xref: PDBeChem:3BY xref: PMID:10075120 {source="Europe PMC"} xref: PMID:16359712 {source="Europe PMC"} xref: PMID:21128667 {source="Europe PMC"} xref: PMID:21838291 {source="Europe PMC"} xref: PMID:25012968 {source="Europe PMC"} xref: PMID:25041144 {source="Europe PMC"} xref: PMID:26593620 {source="Europe PMC"} xref: Reaxys:81103 {source="Reaxys"} is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C6H11NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C6H11NO2/c1-7-4-2-3-5(7)6(8)9/h5H,2-4H2,1H3,(H,8,9)/t5-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "CWLQUGTUXBXTLF-YFKPBYRVSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "129.159" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "129.07898" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C@H]1(CCCN1C)C(O)=O" xsd:string [Term] id: CHEBI:90452 name: lysophosphatidylethanolamine 16:0 namespace: chebi_ontology def: "A lysophosphatidylethanolamine in which the acyl group has a fully saturated C16 chain and is attached to the glycero moiety at either position 1 or 2." [] subset: 3_STAR synonym: "Hexadecanoyl-lysophosphatidylethanolamine" RELATED [ChEBI] synonym: "hexadecanoyl-sn-glycero-3-phosphoethanolamine" RELATED [ChEBI] synonym: "LPE 16:0" RELATED [ChEBI] synonym: "LPE(16:0)" RELATED [ChEBI] synonym: "Lyso-PE(16:0)" RELATED [ChEBI] synonym: "LysoPE(16:0)" RELATED [ChEBI] synonym: "Lysophosphatidylethanolamine(16:0)" RELATED [ChEBI] synonym: "PE 16:0_0.0" RELATED [ChEBI] is_a: CHEBI:64574 ! lysophosphatidylethanolamine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C21H44NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "453.551" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "453.28554" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C@](CO*)(O*)([H])COP(OCCN)(=O)O" xsd:string [Term] id: CHEBI:90693 alt_id: CHEBI:64208 [Term] id: CHEBI:91065 name: sphingomyelin 16:0 namespace: chebi_ontology def: "A sphingomyelin in which the total number of carbons contained in the sphingoid base and fatty acyl groups is 16 with zero double bonds." [] subset: 3_STAR synonym: "SM 16:0" RELATED [ChEBI] synonym: "SM(16:0)" RELATED [ChEBI] synonym: "sphingomyelin(16:0)" RELATED [ChEBI] is_a: CHEBI:64583 ! sphingomyelin property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C21H45N2O6P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "452.301526" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "452.30152" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "*[C@@H](O)[C@@H](NC(=O)*)COP(OCC[N+](C)(C)C)(=O)[O-]" xsd:string [Term] id: CHEBI:91066 name: sphingomyelin 22:0 namespace: chebi_ontology def: "A sphingomyelin in which the total number of carbons contained in the sphingoid base and fatty acyl groups is 22 with zero double bonds." [] subset: 3_STAR synonym: "SM 22:0" RELATED [ChEBI] synonym: "SM(22:0)" RELATED [ChEBI] synonym: "sphingomyelin(22:0)" RELATED [ChEBI] is_a: CHEBI:64583 ! sphingomyelin property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C27H57N2O6P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "536.395426" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "536.39542" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "*[C@@H](O)[C@@H](NC(=O)*)COP(OCC[N+](C)(C)C)(=O)[O-]" xsd:string [Term] id: CHEBI:91067 name: sphingomyelin 24:0 namespace: chebi_ontology def: "A sphingomyelin in which the total number of carbons contained in the sphingoid base and fatty acyl groups is 24 with zero double bonds." [] subset: 3_STAR synonym: "SM 24:0" RELATED [ChEBI] synonym: "SM(24:0)" RELATED [ChEBI] synonym: "sphingomyelin(24:0)" RELATED [ChEBI] is_a: CHEBI:64583 ! sphingomyelin property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C29H61N2O6P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "564.426726" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "564.42672" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "*[C@@H](O)[C@@H](NC(=O)*)COP(OCC[N+](C)(C)C)(=O)[O-]" xsd:string [Term] id: CHEBI:91068 name: sphingomyelin 24:1 namespace: chebi_ontology def: "A sphingomyelin in which the total number of carbons contained in the sphingoid base and fatty acyl groups is 24 with 1 double bond." [] subset: 3_STAR synonym: "SM 24:1" RELATED [ChEBI] synonym: "SM(24:1)" RELATED [ChEBI] synonym: "sphingomyelin(24:1)" RELATED [ChEBI] is_a: CHEBI:64583 ! sphingomyelin property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C29H59N2O6P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "562.411076" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "562.41107" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "*[C@@H](O)[C@@H](NC(=O)*)COP(OCC[N+](C)(C)C)(=O)[O-]" xsd:string [Term] id: CHEBI:9124 name: sertraline hydrochloride namespace: chebi_ontology def: "A hydrochloride resulting from the reaction of equimolar amounts of sertraline and hydrogen chloride. A selective serotonin-reuptake inhibitor (SSRI), it is administered orally as an antidepressant for the treatment of depression, obsessive-compulsive disorder, panic disorder and post-traumatic stress disorder." [] subset: 3_STAR synonym: "(+)-cis-(1S,4S)-1-methylamino-4-(3,4-dichlorophenyl)tetralin hydrochloride" RELATED [ChEBI] synonym: "(+)-sertraline hydrochloride" RELATED [ChEBI] synonym: "(1S,4S)-4-(3,4-dichlorophenyl)-N-methyl-1,2,3,4-tetrahydronaphthalen-1-amine hydrochloride" EXACT IUPAC_NAME [IUPAC] synonym: "(1S,4S)-4-(3,4-dichlorophenyl)-N-methyl-1,2,3,4-tetrahydronaphthalen-1-aminium chloride" RELATED [IUPAC] synonym: "(1S-cis)-4-(3,4-dichlorophenyl)-N-methyl-1,2,3,4-tetrahydronaphthalen-1-amine hydrochloride" RELATED [ChEBI] synonym: "Lustral" RELATED BRAND_NAME [ChEBI] synonym: "sertraline HCl" RELATED [ChemIDplus] synonym: "Zoloft" RELATED BRAND_NAME [KEGG_DRUG] xref: CAS:79559-97-0 {source="ChemIDplus"} xref: CAS:79559-97-0 {source="KEGG DRUG"} xref: ChEMBL:649372 xref: ChemIDplus:79559-97-0 xref: CiteXplore:10184609 xref: CiteXplore:12093324 xref: CiteXplore:12387695 xref: CiteXplore:12452737 xref: CiteXplore:12701343 xref: CiteXplore:12772794 xref: CiteXplore:14596660 xref: CiteXplore:17661734 xref: CiteXplore:18980823 xref: CiteXplore:19026250 xref: CiteXplore:19370626 xref: CiteXplore:19502000 xref: CiteXplore:19584964 xref: CiteXplore:20383937 xref: CiteXplore:20393946 xref: CiteXplore:20457874 xref: CiteXplore:20953053 xref: CiteXplore:21070110 xref: CiteXplore:21456103 xref: CiteXplore:21823671 xref: CiteXplore:8342482 xref: CiteXplore:8675965 xref: DrugBank:DB01104 xref: HMDB:HMDB0005010 xref: HMDB:HMDB05010 xref: KEGG DRUG:79559-97-0 xref: KEGG DRUG:D00825 xref: KEGG:D00825 xref: NCIt:C29451 xref: Patent:US2008161412 xref: PMID:10184609 {source="Europe PMC"} xref: PMID:12093324 {source="Europe PMC"} xref: PMID:12387695 {source="Europe PMC"} xref: PMID:12452737 {source="Europe PMC"} xref: PMID:12701343 {source="Europe PMC"} xref: PMID:12772794 {source="Europe PMC"} xref: PMID:14596660 {source="Europe PMC"} xref: PMID:17661734 {source="Europe PMC"} xref: PMID:18980823 {source="Europe PMC"} xref: PMID:19026250 {source="Europe PMC"} xref: PMID:19370626 {source="Europe PMC"} xref: PMID:19502000 {source="Europe PMC"} xref: PMID:19584964 {source="Europe PMC"} xref: PMID:20383937 {source="Europe PMC"} xref: PMID:20393946 {source="Europe PMC"} xref: PMID:20457874 {source="Europe PMC"} xref: PMID:20953053 {source="Europe PMC"} xref: PMID:21070110 {source="Europe PMC"} xref: PMID:21456103 {source="Europe PMC"} xref: PMID:21823671 {source="Europe PMC"} xref: PMID:8342482 {source="Europe PMC"} xref: PMID:8675965 {source="Europe PMC"} xref: Reaxys:5783715 {source="Reaxys"} xref: SNOMEDCT:412510001 xref: SNOMEDCT:96211006 xref: Wikipedia:Sertraline is_a: EFO:0004415 ! ionic salt property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C17H18Cl3N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C17H17Cl2N.ClH/c1-20-17-9-7-12(13-4-2-3-5-14(13)17)11-6-8-15(18)16(19)10-11;/h2-6,8,10,12,17,20H,7,9H2,1H3;1H/t12-,17-;/m0./s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BLFQGGGGFNSJKA-XHXSRVRCSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "342.69100" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "341.05048" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cl.[H][C@]1(CC[C@H](NC)c2ccccc12)c1ccc(Cl)c(Cl)c1" xsd:string [Term] id: CHEBI:91296 name: lysophosphatidylethanolamine 18:2 namespace: chebi_ontology def: "A lysophosphatidylethanolamine in which the acyl group (position not specified) contains 18 carbons and 2 double bonds." [] subset: 3_STAR synonym: "LPE(18:2)" RELATED [ChEBI] synonym: "LysoPE(18:2)" RELATED [ChEBI] synonym: "lysophosphatidylethanolamine(18:2)" RELATED [ChEBI] is_a: CHEBI:64574 ! lysophosphatidylethanolamine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C23H44NO7P" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "477.285541" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "477.28554" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[C@](CO*)(O*)([H])COP(OCCN)(=O)O" xsd:string [Term] id: CHEBI:9130 name: sevoflurane namespace: chebi_ontology def: "An ether compound having fluoromethyl and 1,1,1,3,3,3-hexafluoroisopropyl as the two alkyl groups." [] subset: 3_STAR synonym: "1,1,1,3,3,3-Hexafluoro-2-(fluoromethoxy)propane" RELATED [ChemIDplus] synonym: "1,1,1,3,3,3-hexafluoro-2-(fluoromethoxy)propane" EXACT IUPAC_NAME [IUPAC] synonym: "Sevofluran" RELATED [ChemIDplus] synonym: "Sevoflurane" RELATED INN [ChemIDplus] synonym: "Sevoflurano" RELATED INN [ChemIDplus] synonym: "Sevofluranum" RELATED INN [ChemIDplus] xref: Beilstein:2041023 {source="Beilstein"} xref: CAS:28523-86-6 {source="KEGG COMPOUND"} xref: CAS:28523-86-6 {source="DrugBank"} xref: CAS:28523-86-6 {source="NIST Chemistry WebBook"} xref: CAS:28523-86-6 {source="ChemIDplus"} xref: CAS:28523-86-6 {source="KEGG DRUG"} xref: Drug_Central:2439 {source="DrugCentral"} xref: DrugBank:DB01236 xref: KEGG:C07520 xref: KEGG:D00547 xref: MeSH:C009250 xref: NCIt:C47717 xref: Patent:DE1954268 xref: Patent:US3689571 xref: SNOMEDCT:108395008 xref: SNOMEDCT:386842005 xref: Wikipedia:Sevoflurane is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:38870 ! inhalation anaesthetic property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H3F7O" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H3F7O/c5-1-12-2(3(6,7)8)4(9,10)11/h2H,1H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "DFEYYRMXOJXZRJ-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "200.05480" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "200.00721" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "FCOC(C(F)(F)F)C(F)(F)F" xsd:string [Term] id: CHEBI:9150 name: simvastatin namespace: chebi_ontology alt_id: CHEBI:45577 def: "A member of the class of hexahydronaphthalenes that is lovastatin in which the 2-methylbutyrate ester moiety has been replaced by a 2,2-dimethylbutyrate ester group. It is used as a cholesterol-lowering and anti-cardiovascular disease drug." [] subset: 3_STAR synonym: "(1S,3R,7S,8S,8aR)-8-{2-[(2R,4R)-4-hydroxy-6-oxotetrahydro-2H-pyran-2-yl]ethyl}-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl 2,2-dimethylbutanoate" EXACT IUPAC_NAME [IUPAC] synonym: "2,2-dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8aR)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one" RELATED [ChemIDplus] synonym: "MK-733" RELATED [KEGG_DRUG] synonym: "Simvastatin" EXACT [KEGG_DRUG] synonym: "simvastatin" RELATED INN [DrugBank] synonym: "Simvastatina" RELATED [ChemIDplus] synonym: "Simvastatine" RELATED [ChemIDplus] synonym: "Simvastatinum" RELATED [ChemIDplus] synonym: "Zocor" RELATED [ChemIDplus] xref: Beilstein:4768037 {source="Beilstein"} xref: CAS:79902-63-9 {source="ChemIDplus"} xref: CAS:79902-63-9 {source="KEGG DRUG"} xref: Drug_Central:2445 {source="DrugCentral"} xref: DrugBank:DB00641 xref: HMDB:HMDB0005007 xref: KEGG:D00434 xref: LINCS:LSM-2492 xref: MeSH:D019821 xref: NCIt:C29454 xref: Patent:EP33538 xref: Patent:US4444784 xref: PMID:11336576 {source="Europe PMC"} xref: PMID:12827636 {source="Europe PMC"} xref: PMID:14561068 {source="Europe PMC"} xref: PMID:14691614 {source="Europe PMC"} xref: PMID:14973129 {source="Europe PMC"} xref: PMID:16144183 {source="Europe PMC"} xref: PMID:17640385 {source="Europe PMC"} xref: PMID:18199328 {source="Europe PMC"} xref: PMID:18688862 {source="Europe PMC"} xref: PMID:18936176 {source="Europe PMC"} xref: PMID:22737247 {source="Europe PMC"} xref: SNOMEDCT:387584000 xref: SNOMEDCT:96304005 xref: Wikipedia:Simvastatin is_a: CHEBI:18059 ! lipid is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C25H38O5" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C25H38O5/c1-6-25(4,5)24(28)30-21-12-15(2)11-17-8-7-16(3)20(23(17)21)10-9-19-13-18(26)14-22(27)29-19/h7-8,11,15-16,18-21,23,26H,6,9-10,12-14H2,1-5H3/t15-,16-,18+,19+,20-,21-,23-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "RYMZZMVNJRMUDD-HGQWONQESA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "418.56620" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "418.27192" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCC(C)(C)C(=O)O[C@H]1C[C@@H](C)C=C2C=C[C@H](C)[C@H](CC[C@@H]3C[C@@H](O)CC(=O)O3)[C@@H]12" xsd:string [Term] id: CHEBI:9168 name: sirolimus namespace: chebi_ontology alt_id: CHEBI:45276 alt_id: CHEBI:67812 def: "A macrolide lactam isolated from Streptomyces hygroscopicus consisting of a 29-membered ring containing 4 trans double bonds, three of which are conjugated. It is an antibiotic, immunosupressive and antineoplastic agent." [] subset: 3_STAR synonym: "(-)-Rapamycin" RELATED [ChemIDplus] synonym: "(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-dihydroxy-12-{(2S)-1-[(1S,3R,4R)-4-hydroxy-3-methoxycyclohexyl]propan-2-yl}-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo[30.3.1.0(4,9)]hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentone" RELATED [IUPAC] synonym: "(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,27-dihydroxy-3-{(2R)-1-[(1S,3R,4R)-4-hydroxy-3-methoxycyclohexyl]propan-2-yl}-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-3H-23,27-epoxypyrido[2,1-c][1,4]oxazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone" EXACT IUPAC_NAME [IUPAC] synonym: "Antibiotic AY 22989" RELATED [DrugBank] synonym: "Rapamune" RELATED BRAND_NAME [DrugBank] synonym: "rapamycin" RELATED [ChEBI] synonym: "Sirolimus" EXACT [KEGG_COMPOUND] synonym: "sirolimus" RELATED INN [WHO_MedNet] synonym: "sirolimusum" RELATED INN [WHO_MedNet] xref: CAS:53123-88-9 {source="ChemIDplus"} xref: CAS:53123-88-9 {source="KEGG COMPOUND"} xref: ChemIDplus:53123-88-9 xref: Drug_Central:2446 {source="DrugCentral"} xref: DrugBank:DB00877 xref: HMDB:HMDB0015015 xref: KEGG COMPOUND:53123-88-9 xref: KEGG COMPOUND:C07909 xref: KEGG DRUG:D00753 xref: KEGG:C07909 xref: KEGG:D00753 xref: KNApSAcK:C00018055 xref: LIPID_MAPS_instance:LMPK06000003 {source="LIPID MAPS"} xref: MeSH:D020123 xref: NCIt:C1212 xref: PDBeChem:RAP xref: PMID:19587680 {source="Europe PMC"} xref: PMID:22960739 {source="Europe PMC"} xref: PMID:22981852 {source="Europe PMC"} xref: PMID:22984623 {source="Europe PMC"} xref: PMID:24341993 {source="Europe PMC"} xref: PMID:24409289 {source="Europe PMC"} xref: Reaxys:5848501 {source="Reaxys"} xref: SNOMEDCT:116109004 xref: SNOMEDCT:387014003 xref: Wikipedia:Rapamycin is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C51H79NO13" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C51H79NO13/c1-30-16-12-11-13-17-31(2)42(61-8)28-38-21-19-36(7)51(60,65-38)48(57)49(58)52-23-15-14-18-39(52)50(59)64-43(33(4)26-37-20-22-40(53)44(27-37)62-9)29-41(54)32(3)25-35(6)46(56)47(63-10)45(55)34(5)24-30/h11-13,16-17,25,30,32-34,36-40,42-44,46-47,53,56,60H,14-15,18-24,26-29H2,1-10H3/b13-11+,16-12+,31-17+,35-25+/t30-,32-,33-,34-,36-,37+,38+,39+,40-,42+,43+,44-,46-,47+,51-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "QFJCIRLUMZQUOT-HPLJOQBZSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "914.17190" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "913.55514" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@]1(CC[C@@H](O)[C@@H](C1)OC)C[C@@H](C)[C@]1([H])CC(=O)[C@H](C)\\C=C(C)\\[C@@H](O)[C@@H](OC)C(=O)[C@H](C)C[C@H](C)\\C=C\\C=C\\C=C(C)\\[C@H](C[C@]2([H])CC[C@@H](C)[C@@](O)(O2)C(=O)C(=O)N2CCCC[C@@]2([H])C(=O)O1)OC" xsd:string [Term] id: CHEBI:9288 name: streptozocin namespace: chebi_ontology def: "An N-nitrosourea that is an antibiotic produced by Streptomyces achromogenes. It is used as an antineoplastic agent and to induce diabetes in experimental animals." [] subset: 3_STAR synonym: "2-Deoxy-2-(((methylnitrosoamino)carbonyl)amino)-D-glucopyranose" RELATED [ChemIDplus] synonym: "2-Deoxy-2-(3-methyl-3-nitrosoureido)-D-glucopyranose" RELATED [ChEBI] synonym: "2-deoxy-2-{[methyl(nitroso)carbamoyl]amino}-alpha-D-glucopyranose" EXACT IUPAC_NAME [IUPAC] synonym: "estreptozocina" RELATED INN [ChemIDplus] synonym: "N-D-Glucosyl-(2)-N'-nitrosomethylharnstoff" RELATED [ChemIDplus] synonym: "N-D-Glucosyl-(2)-N'-nitrosomethylurea" RELATED [ChemIDplus] synonym: "streptozocin" EXACT [UniProt] synonym: "streptozocin" RELATED INN [KEGG_DRUG] synonym: "streptozocine" RELATED INN [DrugBank] synonym: "Streptozocinium" RELATED [DrugBank] synonym: "streptozocinum" RELATED INN [DrugBank] synonym: "Streptozotocin" RELATED [ChemIDplus] synonym: "Zanosar" RELATED [KEGG_COMPOUND] xref: Beilstein:2060675 {source="Beilstein"} xref: CAS:18883-66-4 {source="KEGG COMPOUND"} xref: CAS:18883-66-4 {source="ChemIDplus"} xref: DrugBank:DB00428 xref: HMDB:HMDB0014572 xref: KEGG:C07313 xref: KEGG:D05932 xref: MeSH:D013311 xref: NCIt:C845 xref: Patent:FR1434920 xref: Patent:US2005271747 xref: Patent:US2005272738 xref: Patent:US2008085882 xref: Patent:US4156777 xref: PMID:12613763 {source="Europe PMC"} xref: PMID:23151907 {source="Europe PMC"} xref: PMID:23333576 {source="Europe PMC"} xref: PMID:23600389 {source="Europe PMC"} xref: PMID:23612842 {source="Europe PMC"} xref: PMID:23662406 {source="Europe PMC"} xref: PMID:2954873 {source="Europe PMC"} xref: Reaxys:2060675 {source="Reaxys"} xref: SNOMEDCT:16915004 xref: SNOMEDCT:404876000 xref: Wikipedia:Streptozocin is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:35610 ! antineoplastic agent property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H15N3O7" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H15N3O7/c1-11(10-17)8(16)9-4-6(14)5(13)3(2-12)18-7(4)15/h3-7,12-15H,2H2,1H3,(H,9,16)/t3-,4-,5-,6-,7+/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ZSJLQEPLLKMAKR-GKHCUFPYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "265.22072" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "265.09100" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CN(N=O)C(=O)N[C@H]1[C@@H](O)O[C@H](CO)[C@@H](O)[C@@H]1O" xsd:string [Term] id: CHEBI:9300 name: suberic acid namespace: chebi_ontology def: "An alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane." [] subset: 3_STAR synonym: "1,6-dicarboxyhexane" RELATED [NIST_Chemistry_WebBook] synonym: "1,6-Hexanedicarboxylic acid" RELATED [KEGG_COMPOUND] synonym: "1,8-Octanedioic acid" RELATED [KEGG_COMPOUND] synonym: "Cork acid" RELATED [KEGG_COMPOUND] synonym: "hexamethylenedicarboxylic acid" RELATED [ChemIDplus] synonym: "Korksaeure" RELATED [ChEBI] synonym: "octane-1,8-dioic acid" RELATED [NIST_Chemistry_WebBook] synonym: "Octanedioic acid" RELATED [KEGG_COMPOUND] synonym: "octanedioic acid" EXACT IUPAC_NAME [IUPAC] synonym: "Oktandisaeure" RELATED [ChEBI] synonym: "Suberic acid" EXACT [KEGG_COMPOUND] synonym: "Suberinsaeure" RELATED [ChEBI] xref: Beilstein:1210161 {source="Beilstein"} xref: CAS:505-48-6 {source="ChemIDplus"} xref: CAS:505-48-6 {source="NIST Chemistry WebBook"} xref: CAS:505-48-6 {source="KEGG COMPOUND"} xref: HMDB:HMDB0000893 xref: KEGG:C08278 xref: KNApSAcK:C00001204 xref: LIPID_MAPS_instance:LMFA01170001 {source="LIPID MAPS"} xref: MetaCyc:CPD0-1264 xref: PDBeChem:OCE xref: PMID:22770225 {source="Europe PMC"} xref: Reaxys:1210161 {source="Reaxys"} xref: Wikipedia:Suberic_acid is_a: CHEBI:18059 ! lipid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H14O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H14O4/c9-7(10)5-3-1-2-4-6-8(11)12/h1-6H2,(H,9,10)(H,11,12)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "TYFQFVWCELRYAO-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "174.19436" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "174.08921" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)CCCCCCC(O)=O" xsd:string [Term] id: CHEBI:9307 name: succinimide namespace: chebi_ontology def: "A dicarboximide that is pyrrolidine which is substituted by oxo groups at positions 2 and 5." [] subset: 3_STAR synonym: "2,5-diketopyrrolidine" RELATED [KEGG_COMPOUND] synonym: "2,5-dioxopyrrolidine" RELATED [NIST_Chemistry_WebBook] synonym: "2,5-pyrrolidinedione" RELATED [KEGG_COMPOUND] synonym: "3,4-dihydropyrrole-2,5-dione" RELATED [NIST_Chemistry_WebBook] synonym: "Butanimide" RELATED [KEGG_COMPOUND] synonym: "dihydro-3-pyrroline-2,5-dione" RELATED [NIST_Chemistry_WebBook] synonym: "pyrrolidine-2,5-dione" EXACT IUPAC_NAME [IUPAC] synonym: "succinic acid imide" RELATED [NIST_Chemistry_WebBook] synonym: "succinic imide" RELATED [ChemIDplus] synonym: "Succinimide" EXACT [KEGG_COMPOUND] xref: Beilstein:108440 {source="Beilstein"} xref: CAS:123-56-8 {source="ChemIDplus"} xref: CAS:123-56-8 {source="NIST Chemistry WebBook"} xref: CAS:123-56-8 {source="KEGG COMPOUND"} xref: Chemspider:10955 xref: Drug_Central:4723 {source="DrugCentral"} xref: DrugBank:DB13376 xref: Gmelin:2679 {source="Gmelin"} xref: HMDB:HMDB0240653 xref: KEGG:C07273 xref: KEGG:D08532 xref: PMID:15950535 {source="Europe PMC"} xref: PMID:19123844 {source="Europe PMC"} xref: PMID:22969621 {source="Europe PMC"} xref: PMID:24448553 {source="Europe PMC"} xref: PMID:27697054 {source="Europe PMC"} xref: PMID:31133775 {source="Europe PMC"} xref: PMID:31369977 {source="Europe PMC"} xref: PMID:32646356 {source="Europe PMC"} xref: PMID:6074043 {source="Europe PMC"} xref: Reaxys:108440 {source="Reaxys"} xref: Wikipedia:Succinimide is_a: CHEBI:24532 ! organic heterocyclic compound is_a: EFO:0004417 ! amide property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C4H5NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C4H5NO2/c6-3-1-2-4(7)5-3/h1-2H2,(H,5,6,7)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KZNICNPSHKQLFF-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "99.08800" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "99.03203" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "O=C1CCC(=O)N1" xsd:string [Term] id: CHEBI:9334 name: sulfasalazine namespace: chebi_ontology alt_id: CHEBI:101223 def: "An azobenzene consisting of diphenyldiazene having a carboxy substituent at the 4-position, a hydroxy substituent at the 3-position and a 2-pyridylaminosulphonyl substituent at the 4'-position." [] subset: 3_STAR synonym: "2-Hydroxy-5-((4-((2-pyridinylamino)sulfonyl)phenyl)azo)benzoic acid" RELATED [ChemIDplus] synonym: "2-Hydroxy-5-[4-(pyridin-2-ylsulfamoyl)-phenylazo]-benzoic acid" RELATED [ChEMBL] synonym: "2-hydroxy-5-{[4-(pyridin-2-ylsulfamoyl)phenyl]diazenyl}benzoic acid" EXACT IUPAC_NAME [IUPAC] synonym: "4-(Pyridyl-2-amidosulfonyl)-3'-carboxy-4'-hydroxyazobenzene" RELATED [ChemIDplus] synonym: "5-((p-(2-Pyridylsulfamoyl)phenyl)azo)salicylic acid" RELATED [ChemIDplus] synonym: "5-(4-(2-Pyridylsulfamoyl)phenylazo)-2-hydroxybenzoic acid" RELATED [ChemIDplus] synonym: "5-(p-(2-Pyridylsulfamyl)phenylazo)salicylic acid" RELATED [ChemIDplus] synonym: "Azulfidine" RELATED BRAND_NAME [KEGG_DRUG] synonym: "Salazosulfapiridina" RELATED INN [ChemIDplus] synonym: "Salazosulfapyridine" RELATED [KEGG_COMPOUND] synonym: "Salazosulfapyridinum" RELATED INN [ChemIDplus] synonym: "Salicylazosulfapyridine" RELATED [KEGG_COMPOUND] synonym: "Sulfasalazina" RELATED INN [ChemIDplus] synonym: "Sulfasalazine" EXACT [KEGG_COMPOUND] synonym: "sulfasalazine" RELATED INN [ChemIDplus] synonym: "Sulfasalazinum" RELATED INN [ChemIDplus] xref: Beilstein:356241 {source="Beilstein"} xref: Beilstein:8132868 {source="Beilstein"} xref: CAS:599-79-1 {source="ChemIDplus"} xref: CAS:599-79-1 {source="KEGG COMPOUND"} xref: ChemIDplus:599-79-1 xref: CiteXplore:2434548 xref: DrugBank:DB00795 xref: Gmelin:2666050 {source="Gmelin"} xref: KEGG COMPOUND:599-79-1 xref: KEGG COMPOUND:C07316 xref: KEGG DRUG:D00448 xref: KEGG:C07316 xref: KEGG:D00448 xref: MeSH:D012460 xref: NCIt:C29469 xref: Patent:US2396145 xref: PDBeChem:SAS xref: PMID:11362329 {source="Europe PMC"} xref: PMID:11485124 {source="Europe PMC"} xref: PMID:11587223 {source="Europe PMC"} xref: PMID:14981898 {source="Europe PMC"} xref: PMID:15248210 {source="Europe PMC"} xref: PMID:16322111 {source="Europe PMC"} xref: PMID:17386570 {source="Europe PMC"} xref: PMID:2434548 {source="Europe PMC"} xref: PMID:7720170 {source="Europe PMC"} xref: Reaxys:8132868 {source="Reaxys"} xref: SNOMEDCT:387248006 xref: SNOMEDCT:45844004 is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C18H14N4O5S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C18H14N4O5S/c23-16-9-6-13(11-15(16)18(24)25)21-20-12-4-7-14(8-5-12)28(26,27)22-17-3-1-2-10-19-17/h1-11,23H,(H,19,22)(H,24,25)/b21-20+" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "NCEXYHBECQHGNR-QZQOTICOSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "398.39300" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "398.06849" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "OC(=O)c1cc(ccc1O)\\N=N\\c1ccc(cc1)S(=O)(=O)Nc1ccccn1" xsd:string [Term] id: CHEBI:9349 name: sulfonyldimethane namespace: chebi_ontology subset: 3_STAR synonym: "Dimethyl sulfone" RELATED [KEGG_COMPOUND] synonym: "dimethyl sulfone" RELATED [IUPAC] synonym: "dimethyl sulfone" RELATED [UniProt] synonym: "dimethyl sulphone" RELATED [ChemIDplus] synonym: "methylsulfonylmethane" RELATED [NIST_Chemistry_WebBook] synonym: "Sulfonylbismethane" RELATED [KEGG_COMPOUND] synonym: "sulfonyldimethane" EXACT IUPAC_NAME [IUPAC] synonym: "sulphonylbismethane" RELATED [NIST_Chemistry_WebBook] xref: Beilstein:1737717 {source="Beilstein"} xref: CAS:67-71-0 {source="ChemIDplus"} xref: CAS:67-71-0 {source="NIST Chemistry WebBook"} xref: CAS:67-71-0 {source="KEGG COMPOUND"} xref: Gmelin:130437 {source="Gmelin"} xref: KEGG:C11142 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C2H6O2S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C2H6O2S/c1-5(2,3)4/h1-2H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "HHVIBTZHLRERCL-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "94.13384" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "94.00885" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CS(C)(=O)=O" xsd:string [Term] id: CHEBI:9352 name: sulindac namespace: chebi_ontology def: "A monocarboxylic acid that is 1-benzylidene-1H-indene which is substituted at positions 2, 3, and 5 by methyl, carboxymethyl, and fluorine respectively, and in which the phenyl group of the benzylidene moiety is substituted at the para position by a methylsulfinyl group. It is a prodrug for the corresponding sulfide, a non-steroidal anti-inflammatory drug, used particularly in the treatment of acute and chronic inflammatory conditions." [] subset: 3_STAR synonym: "(Z)-5-Fluoro-2-methyl-1-((p-(methylsulfinyl)phenyl)methylene)-1H-indene-3-acetic acid" RELATED [ChemIDplus] synonym: "cis-5-Fluoro-2-methyl-1-((4-(methylsulfinyl)phenyl)methylene)-1H-indene-3-acetic acid" RELATED [ChemIDplus] synonym: "cis-5-Fluoro-2-methyl-1-((p-methylsulfinyl)benzylidene)indene-3-acetic acid" RELATED [ChemIDplus] synonym: "Clinoril" RELATED BRAND_NAME [DrugBank] synonym: "Sulindac" EXACT [KEGG_COMPOUND] synonym: "sulindac" RELATED INN [ChemIDplus] synonym: "sulindac" RELATED INN [WHO_MedNet] synonym: "sulindaco" RELATED INN [ChemIDplus] synonym: "Sulindacum" RELATED INN [ChemIDplus] synonym: "{(1Z)-5-fluoro-2-methyl-1-[4-(methylsulfinyl)benzylidene]-1H-inden-3-yl}acetic acid" EXACT IUPAC_NAME [IUPAC] xref: Beilstein:2951842 {source="Beilstein"} xref: CAS:38194-50-2 {source="KEGG COMPOUND"} xref: CAS:38194-50-2 {source="NIST Chemistry WebBook"} xref: CAS:38194-50-2 {source="ChemIDplus"} xref: Drug_Central:2534 {source="DrugCentral"} xref: DrugBank:DB00605 xref: HMDB:HMDB0014743 xref: KEGG:C01531 xref: KEGG:D00120 xref: MeSH:D013467 xref: NCIt:C850 xref: Patent:DE2039426 xref: Patent:US3654349 xref: PDBeChem:SUZ xref: PMID:11569947 {source="Europe PMC"} xref: PMID:11927004 {source="Europe PMC"} xref: PMID:12406542 {source="Europe PMC"} xref: PMID:15020200 {source="Europe PMC"} xref: PMID:15123337 {source="Europe PMC"} xref: PMID:19884509 {source="Europe PMC"} xref: PMID:23689354 {source="Europe PMC"} xref: PMID:23804703 {source="Europe PMC"} xref: Reaxys:2951842 {source="Reaxys"} xref: SNOMEDCT:387513000 xref: SNOMEDCT:89505005 xref: Wikipedia:Sulindac is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C20H17FO3S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C20H17FO3S/c1-12-17(9-13-3-6-15(7-4-13)25(2)24)16-8-5-14(21)10-19(16)18(12)11-20(22)23/h3-10H,11H2,1-2H3,(H,22,23)/b17-9-" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "MLKXDPUZXIRXEP-MFOYZWKCSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "356.41158" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "356.08824" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CC1=C(CC(O)=O)c2cc(F)ccc2C\\1=C/c1ccc(cc1)S(C)=O" xsd:string [Term] id: CHEBI:9407 name: taurochenodeoxycholate namespace: chebi_ontology alt_id: CHEBI:57802 def: "An organosulfonate oxoanion that is the conjugate base of taurochenodeoxycholic acid arising from deprotonation of the sulfonate OH group; major species at pH 7.3." [] subset: 3_STAR synonym: "2-[(3alpha,7alpha-dihydroxy-24-oxo-5beta-cholan-24-yl)amino]ethanesulfonate" EXACT IUPAC_NAME [IUPAC] synonym: "Taurochenodeoxycholate" EXACT [KEGG_COMPOUND] synonym: "taurochenodeoxycholate" EXACT [UniProt] synonym: "taurochenodeoxycholate anion" RELATED [ChEBI] synonym: "taurochenodeoxycholate(1-)" RELATED [ChEBI] xref: Beilstein:3919127 {source="Beilstein"} xref: KEGG:C05465 is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C26H44NO6S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C26H45NO6S/c1-16(4-7-23(30)27-12-13-34(31,32)33)19-5-6-20-24-21(9-11-26(19,20)3)25(2)10-8-18(28)14-17(25)15-22(24)29/h16-22,24,28-29H,4-15H2,1-3H3,(H,27,30)(H,31,32,33)/p-1/t16-,17+,18-,19-,20+,21+,22-,24+,25+,26-/m1/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "BHTRKEVKTKCXOH-BJLOMENOSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "498.69670" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "498.28948" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12C[C@H](O)CC[C@]1(C)[C@@]1([H])CC[C@]3(C)[C@]([H])(CC[C@@]3([H])[C@]1([H])[C@H](O)C2)[C@H](C)CCC(=O)NCCS([O-])(=O)=O" xsd:string [Term] id: CHEBI:9467 name: tetrabenazine namespace: chebi_ontology def: "A racemate consisting of equal amounts of (3R,11bR)- and (3S,11bS)-9,10-dimethoxy-3-isobutyl-1,3,4,6,7,11b-hexahydro-2H-pyrido[2,1-a]isoquinolin-2-one. An adrenergic uptake inhibitor, it was formerly used as an antipsychotic, but it is now used mainly for the treatment of various movement disorders including chorea, ballism, dystonias, and tardive dyskinesia." [] subset: 3_STAR synonym: "1,2,4,6,7,11b-hexahydro-3-isobutyl-9,10-dimethoxy-2H-benzo[a]quinolizin-2-one" RELATED [NIST_Chemistry_WebBook] synonym: "1,3,4,6,7,11b-hexahydro-3-isobutyl-9,10-dimethoxy-2H-benzo(a)quinolizin-2-one" RELATED [ChemIDplus] synonym: "2-oxo-3-isobutyl-9,10-dimethoxy-1,3,4,6,7,11b-hexahydro-2H-benzoquinolizine" RELATED [ChemIDplus] synonym: "Nitoman" RELATED BRAND_NAME [DrugBank] synonym: "rac-(3S,11bS)-9,10-dimethoxy-3-(2-methylpropyl)-1,3,4,6,7,11b-hexahydro-2H-pyrido[2,1-a]isoquinolin-2-one" EXACT IUPAC_NAME [IUPAC] synonym: "Ro 1-9569" RELATED [ChemIDplus] synonym: "TBZ" RELATED [ChEBI] synonym: "tetrabenazina" RELATED INN [ChemIDplus] synonym: "Tetrabenazine" EXACT [KEGG_COMPOUND] synonym: "tetrabenazine" RELATED INN [ChemIDplus] synonym: "tetrabenazinum" RELATED INN [ChemIDplus] synonym: "Xenazine" RELATED BRAND_NAME [DrugBank] xref: CAS:58-46-8 {source="ChemIDplus"} xref: CAS:58-46-8 {source="NIST Chemistry WebBook"} xref: CAS:58-46-8 {source="KEGG COMPOUND"} xref: ChemIDplus:58-46-8 xref: CiteXplore:10686169 xref: CiteXplore:19929707 xref: CiteXplore:20442355 xref: CiteXplore:20869622 xref: CiteXplore:21487088 xref: CiteXplore:9040721 xref: DrugBank:DB04844 xref: KEGG COMPOUND:58-46-8 xref: KEGG COMPOUND:C11168 xref: KEGG DRUG:D08575 xref: KEGG:C11168 xref: KEGG:D08575 xref: MeSH:D013747 xref: NCIt:C81095 xref: NIST Chemistry WebBook:58-46-8 xref: Patent:US2830993 xref: PMID:10686169 {source="Europe PMC"} xref: PMID:19929707 {source="Europe PMC"} xref: PMID:20442355 {source="Europe PMC"} xref: PMID:20869622 {source="Europe PMC"} xref: PMID:21487088 {source="Europe PMC"} xref: PMID:9040721 {source="Europe PMC"} xref: Reaxys:9356999 {source="Reaxys"} xref: SNOMEDCT:363581004 xref: Wikipedia:Tetrabenazine is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:35476 ! antipsychotic agent relationship: has_role CHEBI:35640 ! adrenergic uptake inhibitor [Term] id: CHEBI:9513 name: thalidomide namespace: chebi_ontology def: "A racemate comprising equimolar amounts of R- and S-thalidomide." [] subset: 3_STAR synonym: "(+-)-N-(2,6-dioxo-3-piperidyl)phthalimide" RELATED [ChemIDplus] synonym: "(+-)-thalidomide" RELATED [ChemIDplus] synonym: "1,3-dioxo-2-(2,6-dioxopiperidin-3-yl)isoindoline" RELATED [ChemIDplus] synonym: "2,6-dioxo-3-phthalimidopiperidine" RELATED [ChemIDplus] synonym: "3-phthalimidoglutarimide" RELATED [ChemIDplus] synonym: "alpha-(N-phthalimido)glutarimide" RELATED [ChemIDplus] synonym: "alpha-N-phthalylglutaramide" RELATED [ChemIDplus] synonym: "alpha-phthalimidoglutarimide" RELATED [ChemIDplus] synonym: "Distaval" RELATED BRAND_NAME [ChemIDplus] synonym: "K-17" RELATED BRAND_NAME [ChemIDplus] synonym: "N-(2,6-dioxo-3-piperidyl)phthalimide" RELATED [ChemIDplus] synonym: "N-phthaloylglutamimide" RELATED [ChemIDplus] synonym: "N-Phthalyl-glutaminsaeure-imid" RELATED [ChemIDplus] synonym: "N-phthalylglutamic acid imide" RELATED [ChemIDplus] synonym: "rac-2-(2,6-dioxopiperidin-3-yl)-1H-isoindole-1,3(2H)-dione" EXACT IUPAC_NAME [IUPAC] synonym: "Sedalis" RELATED BRAND_NAME [DrugBank] synonym: "Softenon" RELATED BRAND_NAME [ChemIDplus] synonym: "talidomida" RELATED INN [ChemIDplus] synonym: "Talimol" RELATED BRAND_NAME [ChemIDplus] synonym: "Thalidomide" EXACT [KEGG_COMPOUND] synonym: "thalidomide" RELATED INN [ChemIDplus] synonym: "thalidomidum" RELATED INN [ChemIDplus] xref: CAS:50-35-1 {source="NIST Chemistry WebBook"} xref: CAS:50-35-1 {source="KEGG COMPOUND"} xref: CAS:50-35-1 {source="ChemIDplus"} xref: DrugBank:DB01041 xref: HMDB:HMDB0015175 xref: KEGG:C07910 xref: KEGG:D00754 xref: LINCS:LSM-1914 xref: Patent:GB768821 xref: Patent:US2012142734 xref: Patent:WO2013100657 xref: PMID:11349879 {source="Europe PMC"} xref: PMID:11803357 {source="Europe PMC"} xref: PMID:12724820 {source="Europe PMC"} xref: PMID:14689682 {source="Europe PMC"} xref: PMID:17449064 {source="Europe PMC"} xref: PMID:18925849 {source="Europe PMC"} xref: PMID:21207098 {source="Europe PMC"} xref: PMID:2694291 {source="Europe PMC"} xref: PMID:8469046 {source="Europe PMC"} xref: Reaxys:30233 {source="Reaxys"} xref: Wikipedia:Thalidomide is_a: CHEBI:24431 ! chemical entity property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C13H10N2O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "258.233" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "258.06406" xsd:string [Term] id: CHEBI:9516 name: thapsigargin namespace: chebi_ontology alt_id: CHEBI:363811 alt_id: CHEBI:45970 def: "An organic heterotricyclic compound that is a hexa-oxygenated 6,7-guaianolide isolated fron the roots of Thapsia garganica L., Apiaceae. A potent skin irritant, it is used in traditional medicine as a counter-irritant. Thapsigargin inhibits Ca(2+)-transporting ATPase mediated uptake of calcium ions into sarcoplasmic reticulum and is used in experimentation examining the impacts of increasing cytosolic calcium concentrations." [] subset: 3_STAR synonym: "(3S,3aR,4S,6S,6aR,7S,8S,9bS)-6-(acetyloxy)-4-(butanoyloxy)-3,3a-dihydroxy-3,6,9-trimethyl-8-{[(2Z)-2-methylbut-2-enoyl]oxy}-2-oxo-2,3,3a,4,5,6,6a,7,8,9b-decahydroazuleno[4,5-b]furan-7-yl octanoate" EXACT IUPAC_NAME [IUPAC] synonym: "octanoic acid {3S-[3alpha,3abeta,4alpha,6beta,6abeta,7beta,8alpha(Z),9balpha]}-6-(acetoxy)-2,3,3a,4,5,6,6a,7,8,9b-decahydro-3,3a-dihydroxy-3,6,9-trimethyl-8-[(2-methyl-1-oxo-2-butenyl)oxy]-2-oxo-4-(1-oxobutoxy)-azuleno[4,5-b]furan-7-yl ester" RELATED [ChEBI] synonym: "Tg" RELATED [ChEBI] synonym: "Thapsigargin" EXACT [KEGG_COMPOUND] synonym: "thapsigargine" RELATED [ChEBI] xref: Beilstein:4649293 {source="Beilstein"} xref: CAS:67526-95-8 {source="ChemIDplus"} xref: KEGG:C09561 xref: KNApSAcK:C00003375 xref: LIPID_MAPS_instance:LMPR0103410001 {source="LIPID MAPS"} xref: PDBeChem:TG1 xref: PMID:10477042 {source="Europe PMC"} xref: PMID:12410314 {source="Europe PMC"} xref: PMID:16874404 {source="Europe PMC"} xref: PMID:17825049 {source="Europe PMC"} xref: PMID:20357004 {source="Europe PMC"} xref: PMID:24598360 {source="Europe PMC"} xref: PMID:9014219 {source="Europe PMC"} xref: Reaxys:4649293 {source="Reaxys"} xref: Wikipedia:Thapsigargin is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:24913 ! isoprenoid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C34H50O12" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C34H50O12/c1-9-12-13-14-15-17-24(37)43-28-26-25(20(5)27(28)44-30(38)19(4)11-3)29-34(41,33(8,40)31(39)45-29)22(42-23(36)16-10-2)18-32(26,7)46-21(6)35/h11,22,26-29,40-41H,9-10,12-18H2,1-8H3/b19-11-/t22-,26+,27-,28-,29-,32-,33+,34+/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "IXFPJGBNCFXKPI-FSIHEZPISA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "650.75360" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "650.33023" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]1(OC(=O)C(\\C)=C/C)[C@@H](OC(=O)CCCCCCC)[C@@]2([H])C(=C1C)[C@]1([H])OC(=O)[C@@](C)(O)[C@@]1(O)[C@H](C[C@]2(C)OC(C)=O)OC(=O)CCC" xsd:string [Term] id: CHEBI:9566 name: thioridazine namespace: chebi_ontology def: "A phenothiazine derivative having a methylsulfanyl subsitituent at the 2-position and a (1-methylpiperidin-2-yl)ethyl] group at the N-10 position." [] subset: 3_STAR synonym: "10-[2-(1-methyl-2-piperidyl)ethyl]-2-methylsulfanyl-phenothiazine" RELATED [IUPHAR] synonym: "10-[2-(1-methylpiperidin-2-yl)ethyl]-2-(methylsulfanyl)-10H-phenothiazine" EXACT IUPAC_NAME [IUPAC] synonym: "2-Methylmercapto-10-(2-(N-methyl-2-piperidyl)ethyl)phenothiazine" RELATED [ChemIDplus] synonym: "3-Methylmercapto-N-(2'-(N-methyl-2-piperidyl)ethyl)phenothiazine" RELATED [ChemIDplus] synonym: "Mallorol" RELATED BRAND_NAME [DrugBank] synonym: "Malloryl" RELATED BRAND_NAME [IUPHAR] synonym: "Meleril" RELATED BRAND_NAME [DrugBank] synonym: "Mellaril" RELATED BRAND_NAME [DrugBank] synonym: "Mellaril-S" RELATED BRAND_NAME [KEGG_DRUG] synonym: "Mellerets" RELATED BRAND_NAME [IUPHAR] synonym: "Mellerette" RELATED BRAND_NAME [DrugBank] synonym: "Melleril" RELATED BRAND_NAME [DrugBank] synonym: "Orsanil" RELATED BRAND_NAME [DrugBank] synonym: "Sonapax" RELATED BRAND_NAME [DrugBank] synonym: "Thioridazin" RELATED [DrugBank] synonym: "thioridazine" RELATED INN [ChemIDplus] synonym: "thioridazinum" RELATED INN [ChemIDplus] synonym: "tioridazina" RELATED INN [ChemIDplus] xref: Beilstein:94457 {source="Beilstein"} xref: CAS:50-52-2 {source="ChemIDplus"} xref: Drug_Central:2637 {source="DrugCentral"} xref: DrugBank:DB00679 xref: HMDB:HMDB0014817 xref: KEGG:D00373 xref: LINCS:LSM-1863 xref: MeSH:D013881 xref: NCIt:C61971 xref: PMID:10796547 {source="Europe PMC"} xref: PMID:11686961 {source="Europe PMC"} xref: PMID:1650428 {source="Europe PMC"} xref: PMID:17764469 {source="Europe PMC"} xref: PMID:17876580 {source="Europe PMC"} xref: PMID:19747949 {source="Europe PMC"} xref: PMID:20825390 {source="Europe PMC"} xref: PMID:26956010 {source="Europe PMC"} xref: PMID:27023487 {source="Europe PMC"} xref: PMID:27068340 {source="Europe PMC"} xref: PMID:9352572 {source="Europe PMC"} xref: Reaxys:94457 {source="Reaxys"} xref: SNOMEDCT:33588000 xref: SNOMEDCT:372706001 xref: Wikipedia:Thioridazine is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:35476 ! antipsychotic agent relationship: has_role CHEBI:37890 ! alpha-adrenergic antagonist relationship: has_role CHEBI:48279 ! serotonergic antagonist relationship: has_role CHEBI:48561 ! dopaminergic antagonist property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C21H26N2S2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C21H26N2S2/c1-22-13-6-5-7-16(22)12-14-23-18-8-3-4-9-20(18)25-21-11-10-17(24-2)15-19(21)23/h3-4,8-11,15-16H,5-7,12-14H2,1-2H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "KLBQZWRITKRQQV-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "370.57500" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "370.15374" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CSc1ccc2Sc3ccccc3N(CCC3CCCCN3C)c2c1" xsd:string [Term] id: CHEBI:9588 name: ticlopidine namespace: chebi_ontology def: "A thienopyridine that is 4,5,6,7-tetrahydrothieno[3,2-c]pyridine in which the hydrogen attached to the nitrogen is replaced by an o-chlorobenzyl group." [] subset: 3_STAR synonym: "5-(2-chlorobenzyl)-4,5,6,7-tetrahydrothieno[3,2-c]pyridine" EXACT IUPAC_NAME [IUPAC] synonym: "ticlopidina" RELATED INN [ChemIDplus] synonym: "ticlopidine" RELATED INN [ChemIDplus] synonym: "ticlopidine" RELATED INN [WHO_MedNet] synonym: "ticlopidinum" RELATED INN [ChemIDplus] xref: CAS:55142-85-3 {source="ChemIDplus"} xref: ChemIDplus:55142-85-3 xref: Drug_Central:2657 {source="DrugCentral"} xref: DrugBank:DB00208 xref: KEGG COMPOUND:C07140 xref: KEGG:C07140 xref: KEGG:D08594 xref: LINCS:LSM-1986 xref: MeSH:D013988 xref: NCIt:C61972 xref: Patent:DE2404308 xref: Patent:US4051141 xref: Patent:US4127580 xref: PMID:19180126 {source="Europe PMC"} xref: Reaxys:1216802 {source="Reaxys"} xref: SNOMEDCT:108971003 xref: SNOMEDCT:386950000 xref: Wikipedia:Ticlopidine is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role EFO:0001899 ! drug role property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C14H14ClNS" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C14H14ClNS/c15-13-4-2-1-3-11(13)9-16-7-5-14-12(10-16)6-8-17-14/h1-4,6,8H,5,7,9-10H2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "PHWBOXQYWZNQIN-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "263.78600" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "263.05355" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Clc1ccccc1CN1CCc2sccc2C1" xsd:string [Term] id: CHEBI:9629 name: tomatidine namespace: chebi_ontology def: "A 3beta-hydroxy steroid resulting from the substitution of the 3beta-hydrogen of tomatidane by a hydroxy group." [] subset: 3_STAR synonym: "(22S,25S)-5alpha-spirosolan-3beta-ol" EXACT IUPAC_NAME [IUPAC] synonym: "(3beta,5alpha,22beta,25S)-spirosolan-3-ol" RELATED [NIST_Chemistry_WebBook] synonym: "5alpha-tomatidan-3beta-ol" RELATED [NIST_Chemistry_WebBook] synonym: "Tomatidin" RELATED [ChemIDplus] synonym: "Tomatidine" EXACT [KEGG_COMPOUND] xref: Beilstein:91747 {source="Beilstein"} xref: CAS:77-59-8 {source="KEGG COMPOUND"} xref: CAS:77-59-8 {source="NIST Chemistry WebBook"} xref: CAS:77-59-8 {source="ChemIDplus"} xref: KEGG:C10826 xref: KNApSAcK:C00002267 xref: Patent:US2770618 xref: PMID:18544347 {source="Europe PMC"} xref: PMID:21357296 {source="Europe PMC"} xref: PMID:5704163 {source="Europe PMC"} xref: PMID:6056488 {source="Europe PMC"} xref: Reaxys:91747 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound is_a: CHEBI:35341 ! steroid property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C27H45NO2" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C27H45NO2/c1-16-7-12-27(28-15-16)17(2)24-23(30-27)14-22-20-6-5-18-13-19(29)8-10-25(18,3)21(20)9-11-26(22,24)4/h16-24,28-29H,5-15H2,1-4H3/t16-,17-,18-,19-,20+,21-,22-,23-,24-,25-,26-,27-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "XYNPYHXGMWJBLV-VXPJTDKGSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "415.65174" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "415.34503" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12CC[C@]3([H])[C@]([H])(CC[C@@]4(C)[C@@]3([H])C[C@]3([H])O[C@@]5(CC[C@H](C)CN5)[C@@H](C)[C@]43[H])[C@@]1(C)CC[C@H](O)C2" xsd:string [Term] id: CHEBI:9630 name: tomatine namespace: chebi_ontology def: "A steroid alkaloid that is tomatidine in which the hydroxy group at position 3 is linked to lycotetraose, a tetrasaccharide composed of two units of D-glucose, one unit of D-xylose, and one unit of D-galactose." [] subset: 3_STAR synonym: "(22S,25S)-5alpha-spirosolan-3beta-yl beta-D-glucopyranosyl-(1->2)-[beta-D-xylopyranosyl-(1->3)]-beta-D-glucopyranosyl-(1->4)-beta-D-galactopyranoside" EXACT IUPAC_NAME [IUPAC] synonym: "(3beta,5alpha,22beta,25S)-spirosolan-3-yl O-beta-D-glucopyranosyl-(1->2)-O-(beta-D-xylopyranosyl)-(1->3)-O-beta-D-glucopyranosyl-(1->4)-beta-D-galactopyranoside" RELATED [ChemIDplus] synonym: "A''-Tomatidine" RELATED [ChemIDplus] synonym: "alpha-tomatine" RELATED [ChemIDplus] synonym: "lycopersicin" RELATED [ChemIDplus] synonym: "Tomatin" RELATED [HMDB] synonym: "Tomatine" EXACT [KEGG_COMPOUND] xref: Beilstein:78250 {source="Beilstein"} xref: CAS:17406-45-0 {source="KEGG COMPOUND"} xref: CAS:17406-45-0 {source="ChemIDplus"} xref: ChEMBL:623058 xref: ChemIDplus:17406-45-0 xref: CiteXplore:17585910 xref: CiteXplore:19457446 xref: CiteXplore:19514731 xref: CiteXplore:20300588 xref: CiteXplore:21264526 xref: CiteXplore:21541327 xref: HMDB:HMDB0034103 xref: KEGG COMPOUND:17406-45-0 xref: KEGG COMPOUND:C10827 xref: KEGG:C10827 xref: KNApSAcK:C00002268 xref: LIPID_MAPS_instance:LMST01150015 {source="LIPID MAPS"} xref: MeSH:D014053 xref: PMID:17585910 {source="Europe PMC"} xref: PMID:17979099 {source="Europe PMC"} xref: PMID:19457446 {source="Europe PMC"} xref: PMID:19514731 {source="Europe PMC"} xref: PMID:20300588 {source="Europe PMC"} xref: PMID:21264526 {source="Europe PMC"} xref: PMID:21541327 {source="Europe PMC"} xref: PMID:23448507 {source="Europe PMC"} xref: PMID:25772114 {source="Europe PMC"} xref: Reaxys:78250 {source="Reaxys"} xref: Wikipedia:Tomatine is_a: CHEBI:35341 ! steroid relationship: has_role CHEBI:24127 ! fungicide relationship: has_role CHEBI:27026 ! toxin property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C50H83NO21" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C50H83NO21/c1-20-7-12-50(51-15-20)21(2)32-28(72-50)14-26-24-6-5-22-13-23(8-10-48(22,3)25(24)9-11-49(26,32)4)65-45-40(63)37(60)41(31(18-54)68-45)69-47-43(71-46-39(62)36(59)34(57)29(16-52)66-46)42(35(58)30(17-53)67-47)70-44-38(61)33(56)27(55)19-64-44/h20-47,51-63H,5-19H2,1-4H3/t20-,21-,22-,23-,24+,25-,26-,27+,28-,29+,30+,31+,32-,33-,34+,35+,36-,37+,38+,39+,40+,41-,42-,43+,44-,45+,46-,47-,48-,49-,50-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "REJLGAUYTKNVJM-SGXCCWNXSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "1034.18816" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "1033.54576" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[H][C@@]12CC[C@]3([H])[C@]([H])(CC[C@@]4(C)[C@@]3([H])C[C@]3([H])O[C@@]5(CC[C@H](C)CN5)[C@@H](C)[C@]43[H])[C@@]1(C)CC[C@@H](C2)O[C@@H]1O[C@H](CO)[C@H](O[C@@H]2O[C@H](CO)[C@@H](O)[C@H](O[C@@H]3OC[C@@H](O)[C@H](O)[C@H]3O)[C@H]2O[C@@H]2O[C@H](CO)[C@@H](O)[C@H](O)[C@H]2O)[C@H](O)[C@H]1O" xsd:string [Term] id: CHEBI:9674 name: triazolam namespace: chebi_ontology subset: 3_STAR synonym: "8-chloro-6-(2-chlorophenyl)-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepine" EXACT IUPAC_NAME [IUPAC] synonym: "Halcion" RELATED [ChemIDplus] xref: Beilstein:1226643 {source="Beilstein"} xref: CAS:28911-01-5 {source="ChemIDplus"} xref: Drug_Central:2729 {source="DrugCentral"} xref: DrugBank:DB00897 xref: KEGG:D00387 xref: Wikipedia:Triazolam is_a: CHEBI:22720 ! benzodiazepine property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C17H12Cl2N4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C17H12Cl2N4/c1-10-21-22-16-9-20-17(12-4-2-3-5-14(12)19)13-8-11(18)6-7-15(13)23(10)16/h2-8H,9H2,1H3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "JOFWLTCLBGQGBO-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "343.20954" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "342.04390" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cc1nnc2CN=C(c3ccccc3Cl)c3cc(Cl)ccc3-n12" xsd:string [Term] id: CHEBI:9678 name: tribenuron methyl namespace: chebi_ontology alt_id: CHEBI:39705 def: "The methyl ester of tribenuron." [] subset: 3_STAR synonym: "methyl 2-[({[(4-methoxy-6-methyl-1,3,5-triazin-2-yl)(methyl)amino]carbonyl}amino)sulfonyl]benzoate" RELATED [ChEBI] synonym: "METHYL 2-[4-METHOXY-6-METHYL-1,3,5-TRAZIN-2-YL(METHYL)CARBAMOYLSULFAMOYL]BENZOATE" RELATED [PDBeChem] synonym: "methyl 2-{[(4-methoxy-6-methyl-1,3,5-triazin-2-yl)(methyl)carbamoyl]sulfamoyl}benzoate" EXACT IUPAC_NAME [IUPAC] synonym: "Sulfmethmeton-methyl" RELATED [ChemIDplus] synonym: "Tribenuron methyl" EXACT [KEGG_COMPOUND] synonym: "Tribenuron methyl ester" RELATED [ChemIDplus] synonym: "Tribenuron-methyl" RELATED [KEGG_COMPOUND] xref: CAS:101200-48-0 {source="ChemIDplus"} xref: CAS:101200-48-0 {source="KEGG COMPOUND"} xref: ChEMBL:792130 xref: ChemIDplus:101200-48-0 xref: CiteXplore:20048324 xref: CiteXplore:21277578 xref: CiteXplore:21637929 xref: CiteXplore:21983197 xref: CiteXplore:22217454 xref: KEGG COMPOUND:101200-48-0 xref: KEGG COMPOUND:C10962 xref: KEGG:C10962 xref: PDBeChem:1TB xref: Pesticides:tribenuron {source="Alan Wood's Pesticides"} xref: PMID:20048324 {source="Europe PMC"} xref: PMID:21277578 {source="Europe PMC"} xref: PMID:21637929 {source="Europe PMC"} xref: PMID:21983197 {source="Europe PMC"} xref: PMID:22217454 {source="Europe PMC"} xref: PPDB:655 xref: Reaxys:7447730 {source="Reaxys"} is_a: CHEBI:24532 ! organic heterocyclic compound relationship: has_role CHEBI:33286 ! agrochemical property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C15H17N5O6S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C15H17N5O6S/c1-9-16-13(18-14(17-9)26-4)20(2)15(22)19-27(23,24)11-8-6-5-7-10(11)12(21)25-3/h5-8H,1-4H3,(H,19,22)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "VLCQZHSMCYCDJL-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "395.39000" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "395.08995" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "COC(=O)c1ccccc1S(=O)(=O)NC(=O)N(C)c1nc(C)nc(OC)n1" xsd:string [Term] id: CHEBI:9753 name: troglitazone namespace: chebi_ontology subset: 3_STAR synonym: "(+-)-all-rac-5-(p-((6-Hydroxy-2,5,7,8-tetramethyl-2-chromanyl)methoxy)benzyl)-2,4-thiazolidinedione" RELATED [ChemIDplus] synonym: "5-(4-(6-Hydroxy-2,5,7,8-tetramethylchroman-2-ylmethoxy)benzyl)thiazolidine-2,4-dione" RELATED [ChemIDplus] synonym: "5-{4-[(6-hydroxy-2,5,7,8-tetramethyl-3,4-dihydro-2H-chromen-2-yl)methoxy]benzyl}-1,3-thiazolidine-2,4-dione" EXACT IUPAC_NAME [IUPAC] synonym: "Rezulin (TN)" RELATED [KEGG_DRUG] synonym: "Romglizone" RELATED [ChemIDplus] synonym: "troglitazona" RELATED INN [ChEBI] synonym: "Troglitazone" EXACT [KEGG_DRUG] synonym: "troglitazone" RELATED INN [ChEBI] synonym: "troglitazonum" RELATED INN [ChEBI] xref: Beilstein:4338399 {source="Beilstein"} xref: CAS:97322-87-7 {source="ChemIDplus"} xref: CAS:97322-87-7 {source="KEGG DRUG"} xref: Drug_Central:2767 {source="DrugCentral"} xref: DrugBank:DB00197 xref: KEGG:D00395 xref: LINCS:LSM-4890 xref: MeSH:C057693 xref: MetaCyc:CPD-11439 xref: NCIt:C1522 xref: Patent:US4572912 xref: SNOMEDCT:109085002 xref: SNOMEDCT:386967007 xref: Wikipedia:Troglitazone is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C24H27NO5S" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C24H27NO5S/c1-13-14(2)21-18(15(3)20(13)26)9-10-24(4,30-21)12-29-17-7-5-16(6-8-17)11-19-22(27)25-23(28)31-19/h5-8,19,26H,9-12H2,1-4H3,(H,25,27,28)" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "GXPHKUHSUJUWKP-UHFFFAOYSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "441.54000" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "441.16099" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "Cc1c(C)c2OC(C)(CCc2c(C)c1O)COc1ccc(CC2SC(=O)NC2=O)cc1" xsd:string [Term] id: CHEBI:9925 name: sodium valproate namespace: chebi_ontology def: "The sodium salt of valproic acid." [] subset: 3_STAR synonym: "2-Propylvaleric acid sodium salt" RELATED [KEGG_COMPOUND] synonym: "Depakene" RELATED [KEGG_COMPOUND] synonym: "Epilim" RELATED [ChemIDplus] synonym: "sodium 2-propylpentanoate" EXACT IUPAC_NAME [IUPAC] synonym: "Valproate sodium" RELATED [KEGG_COMPOUND] synonym: "valproic acid sodium salt" RELATED [ChEBI] xref: CAS:1069-66-5 {source="ChemIDplus"} xref: DrugBank:DBSALT001257 xref: KEGG:C07842 xref: KEGG:D00710 xref: MeSH:C420746 xref: NCIt:C26311 xref: PMID:18248662 {source="Europe PMC"} is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:35477 ! antimanic drug relationship: has_role CHEBI:35623 ! anticonvulsant property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C8H15O2Na" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C8H16O2.Na/c1-3-5-7(6-4-2)8(9)10;/h7H,3-6H2,1-2H3,(H,9,10);/q;+1/p-1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "AEQFSUDEHCCHBT-UHFFFAOYSA-M" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "166.19327" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "166.09697" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "[Na+].CCCC(CCC)C([O-])=O" xsd:string [Term] id: CHEBI:9927 name: valsartan namespace: chebi_ontology def: "A monocarboxylic acid amide consisting of L-valine in which the amino hydrogens have been replaced by a pentanoyl and a [2'-(1H-tetrazol-5-yl)biphenyl]-4-yl]methyl group. It exhibits antihypertensive activity." [] subset: 3_STAR synonym: "(S)-N-valeryl-N-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]-methyl}-valine" RELATED [IUPHAR] synonym: "Diovan" RELATED [KEGG_DRUG] synonym: "N-(p-(o-1H-tetrazol-5-ylphenyl)benzyl)-N-valeryl-L-valine" RELATED [ChemIDplus] synonym: "N-pentanoyl-N-{[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl}-L-valine" EXACT IUPAC_NAME [IUPAC] synonym: "N-pentanoyl-N-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-L-valine" RELATED [IUPAC] synonym: "valsartan" RELATED INN [ChemIDplus] xref: Beilstein:7754038 {source="Beilstein"} xref: CAS:137862-53-4 {source="ChemIDplus"} xref: Drug_Central:2806 {source="DrugCentral"} xref: DrugBank:DB00177 xref: HMDB:HMDB0014323 xref: KEGG:D00400 xref: LINCS:LSM-2993 xref: Patent:EP443983 xref: Patent:US5399578 xref: Reaxys:7754038 {source="Reaxys"} xref: Wikipedia:Valsartan is_a: CHEBI:24532 ! organic heterocyclic compound property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C24H29N5O3" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchi "InChI=1S/C24H29N5O3/c1-4-5-10-21(30)29(22(16(2)3)24(31)32)15-17-11-13-18(14-12-17)19-8-6-7-9-20(19)23-25-27-28-26-23/h6-9,11-14,16,22H,4-5,10,15H2,1-3H3,(H,31,32)(H,25,26,27,28)/t22-/m0/s1" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/inchikey "ACWBQPMHZXGDFX-QFIPXVFZSA-N" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "435.51896" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "435.22704" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/smiles "CCCCC(=O)N(Cc1ccc(cc1)-c1ccccc1-c1nnn[nH]1)[C@@H](C(C)C)C(O)=O" xsd:string [Term] id: CHEBI:9948 name: verapamil namespace: chebi_ontology def: "A racemate comprising equimolar amounts of dexverapamil and (S)-verapamil. An L-type calcium channel blocker of the phenylalkylamine class, it is used (particularly as the hydrochloride salt) in the treatment of hypertension, angina pectoris and cardiac arrhythmia, and as a preventive medication for migraine." [] subset: 3_STAR synonym: "rac-2-(3,4-dimethoxyphenyl)-5-{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino}-2-(propan-2-yl)pentanenitrile" EXACT IUPAC_NAME [IUPAC] synonym: "Verapamil" EXACT [KEGG_COMPOUND] synonym: "verapamil" RELATED INN [WHO_MedNet] synonym: "verapamil" RELATED INN [ChemIDplus] synonym: "verapamilo" RELATED INN [ChemIDplus] synonym: "verapamilum" RELATED INN [ChemIDplus] xref: Beilstein:2825000 "Beilstein Registry Number" xref: Beilstein:2825000 {source="Beilstein"} xref: CAS:52-53-9 {source="ChemIDplus"} xref: CAS:52-53-9 {source="NIST Chemistry WebBook"} xref: CAS:52-53-9 {source="KEGG COMPOUND"} xref: ChemIDplus:52-53-9 "CAS Registry Number" xref: DrugBank:DB00661 "DrugBank" xref: DrugBank:DB00661 xref: HMDB:HMDB0001850 xref: KEGG COMPOUND:52-53-9 "CAS Registry Number" xref: KEGG COMPOUND:C07188 "KEGG COMPOUND" xref: KEGG DRUG:D02356 "KEGG DRUG" xref: KEGG:C07188 xref: KEGG:D02356 xref: MeSH:D014700 xref: NCIt:C928 xref: PMID:11142488 {source="Europe PMC"} xref: PMID:11389609 {source="Europe PMC"} xref: PMID:11454724 {source="Europe PMC"} xref: PMID:11975770 {source="Europe PMC"} xref: PMID:12454681 {source="Europe PMC"} xref: PMID:14681337 {source="Europe PMC"} xref: PMID:16545584 {source="Europe PMC"} xref: PMID:17525564 {source="Europe PMC"} xref: PMID:17724247 {source="Europe PMC"} xref: PMID:18093581 {source="Europe PMC"} xref: PMID:18337499 {source="Europe PMC"} xref: PMID:19125880 {source="Europe PMC"} xref: PMID:24532601 {source="Europe PMC"} xref: PMID:24577794 {source="Europe PMC"} xref: PMID:25297337 {source="Europe PMC"} xref: PMID:25331694 {source="Europe PMC"} xref: PMID:25650380 {source="Europe PMC"} xref: PMID:25968157 {source="Europe PMC"} xref: PMID:26046259 {source="Europe PMC"} xref: PMID:26504804 {source="Europe PMC"} xref: PMID:26553277 {source="Europe PMC"} xref: PMID:26567612 {source="Europe PMC"} xref: PMID:8861548 {source="Europe PMC"} xref: Reaxys:2825000 {source="Reaxys"} xref: SNOMEDCT:372754009 xref: SNOMEDCT:47898004 xref: Wikipedia:Verapamil is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:35620 ! vasodilator agent relationship: has_role CHEBI:38070 ! anti-arrhythmia drug property_value: http://purl.obolibrary.org/obo/chebi/charge "0" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/formula "C27H38N2O4" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/mass "454.60160" xsd:string property_value: http://purl.obolibrary.org/obo/chebi/monoisotopicmass "454.28316" xsd:string [Term] id: CL:0000000 name: cell def: "A material entity of anatomical origin (part of or deriving from an organism) that has as its parts a maximally connected cell compartment surrounded by a plasma membrane." [CARO:mah] comment: The definition of cell is intended to represent all cells, and thus a cell is defined as a material entity and not an anatomical structure, which implies that it is part of an organism (or the entirety of one). subset: ubprop:upper_level xref: CALOHA:TS-2035\n xref: CALOHA:TS-2035 xref: FBbt:00007002 xref: FMA:68646\n xref: FMA:68646 xref: GO:0005623\n xref: GO:0005623 xref: KUPO:0000002\n\n xref: KUPO:0000002 xref: MESH:D002477 xref: NCIt:C12508 xref: NCIt:C48694 xref: VHOG:0001533\n\n xref: VHOG:0001533 xref: WBbt:0004017\n xref: WBbt:0004017 xref: XAO:0003012\n\n xref: XAO:0003012 is_a: GO:0005575 ! cellular_component [Term] id: CL:0000002 name: obsolete immortal cell line cell def: "OBSOLETE: A cell line cell that is expected to be capable of an unlimited number of divisions, and is thus able to support indefinite growth/propagation in vitro as part of a immortal cell line." [ReO:mhb] comment: Obsoleted in July 2013 and replaced by the CLO 'immortal cell line cell' class, as a result of CLO-OBI-CL alignment efforts.\n\nCovers cells actively being cultured or stored in a quiescent state for future use. synonym: "continuous cell line cell" EXACT [] synonym: "permanent cell line cell" EXACT [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.16.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/CLO_0000019" xsd:string is_obsolete: true replaced_by: CLO:0000019 replaced_by: http://purl.obolibrary.org/obo/CLO_0000019 [Term] id: CL:0000007 name: early embryonic cell (metazoa) def: "A cell found in the embryo before the formation of all the gem layers is complete." [GOC:tfm] is_a: CL:0002321 ! embryonic cell (metazoa) [Term] id: CL:0000010 name: cultured cell def: "A cell in vitro that is or has been maintained or propagated as part of a cell culture." [ReO:mhb] comment: Note that this class was re-labeled to 'cultured cell' instead of 'cell line cell', as it intent was clarified to cover any cultured cells of multicellular and unicellular organisms. This includes cells actively being cultured, or cells that have been cultured but are stored in a quiescent state for future use. In having been cultured, cells must establish homeostasis and often replicate in a foreign environment. Accomodation of this stress initiates a selection of cells fit for such challenges, wherein necessary adaptive biochemical and.or genetic changes can occur. These changes can set them apart from the in vivo cells from which they derive, and such changes will typically accumulate and change over increasing time in culture. xref: MeSH:D002460 xref: MESH:D002478 xref: MO:562 xref: NCIt:C16403 is_a: CL:0000000 ! cell disjoint_from: EFO:0000324 ! cell type relationship: RO:0000056 EFO:0002694 ! participates_in experimental process [Term] id: CL:0000015 name: male germ cell def: "A germ cell that supports male gamete production. In some species, non-germ cells known as Sertoli cells also play a role in spermatogenesis." [https://orcid.org/0000-0001-5208-3432, PMID:29462262] xref: FMA:72290 xref: MA:0002765 xref: ncithesaurus:Spermatogenic_Cell xref: VHOG:0001531 is_a: CL:0000586 ! germ cell property_value: seeAlso https://github.com/obophenotype/cell-ontology/issues/574 xsd:string [Term] id: CL:0000019 name: sperm def: "A mature male germ cell that develops from a spermatid." [GOC:tfm, MESH:D013094] synonym: "sperm cell" EXACT [] synonym: "spermatozoid" EXACT [] synonym: "spermatozoon" EXACT [] xref: BTO:0001277 xref: BTO:0002046 xref: CALOHA:TS-0949 xref: FBbt:00004954 xref: FMA:67338 xref: MA:0002765 xref: MAT:0000131 xref: MeSH:D012661 xref: NCIt:C12602 xref: NCIt:C13277 xref: SAEL:93 xref: WBbt:0005321 xref: WBbt:0006798 xref: ZFA:0009006 is_a: CL:0000015 ! male germ cell is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000079 ! male reproductive system [Term] id: CL:0000023 name: oocyte def: "A female germ cell that has entered meiosis." [GOC:tfm, ISBN:0721662544] synonym: "oogonium" RELATED [] xref: BTO:0000964 xref: CALOHA:TS-0711 xref: FBbt:00004886 xref: FMA:18644 xref: MESH:D009865 xref: NCIt:C12598 xref: SNOMEDCT:86082002 xref: WBbt:0006797 xref: ZFA:0009008 is_a: CL:0000586 ! germ cell relationship: part_of UBERON:0000474 ! female reproductive system [Term] id: CL:0000025 name: egg cell def: "A female gamete where meiosis has progressed to metaphase II and is able to participate in fertilization." [GOC:tfm, ISBN:0721662544] synonym: "mature oocyte" EXACT [] synonym: "ovum" EXACT [] xref: BTO:0000369 xref: BTO:0003801 xref: CALOHA:TS-2191 xref: FBbt:00057012 xref: FMA:67343 xref: MA:0000388 xref: MAT:0000213 xref: MESH:D010063 xref: MeSH:D010063 xref: PO:0020094 xref: SNOMEDCT:73153001 is_a: CL:0000586 ! germ cell is_a: EFO:0000988 ! gametophyte property_value: depicted:by https://www.swissbiopics.org/api/image/Egg_cell.svg xsd:anyURI [Term] id: CL:0000031 name: neuroblast (sensu Vertebrata) def: "A cell that will develop into a neuron often after a migration phase." [GOC:NV, http://en.wikipedia.org/wiki/Neuroblast] synonym: "neuroblast" EXACT [] xref: BTO:0000930 xref: FMA:70563 is_a: CL:0000055 ! non-terminally differentiated cell [Term] id: CL:0000034 name: stem cell def: "A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells." [GOC:tfm, MESH:D013234] comment: This term applies to metazoan. For plant stem cells, consider using PO:0004011 ‘initial cell’ or its parent PO:0004010 ‘meristematic cell’. subset: general_cell_types_upper_slim subset: human_reference_atlas synonym: "animal stem cell" EXACT [] xref: CALOHA:TS-2086 xref: FMA:63368 xref: NCIt:C12662 xref: SNOMEDCT:419758009 is_a: CL:0000000 ! cell is_a: EFO:0000324 ! cell type property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000037 name: hematopoietic stem cell def: "A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4, CD5 ,CD8 alpha chain, CD11b, CD14, CD19, CD20, CD56, ly6G, ter119." [GOC:add, GOC:dsd, GOC:tfm, http://en.wikipedia.org/wiki/Hematopoietic_stem_cell, PMID:19022770] comment: Markers differ between species, and two sets of markers have been described for mice. HSCs are reportedly CD34-positive, CD45-positive, CD48-negative, CD150-positive, CD133-positive, and CD244-negative. subset: blood_and_immune_upper_slim subset: human_reference_atlas synonym: "blood forming stem cell" EXACT [] synonym: "colony forming unit hematopoietic" RELATED [] synonym: "hemopoietic stem cell" EXACT [] synonym: "HSC" RELATED abbreviation [] xref: BTO:0000725 xref: CALOHA:TS-0448 xref: FMA:70337 xref: FMA:86475 xref: MESH:D006412 xref: NCIt:C12551 xref: SNOMEDCT:418318001 xref: VHOG:0001485 is_a: CL:0000723 ! somatic stem cell is_a: CL:0000988 ! hematopoietic cell relationship: located_in UBERON:0002390 ! hematopoietic system property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000038 name: erythroid progenitor cell def: "A progenitor cell committed to the erythroid lineage." [GOC:add, ISBN:0721601464] subset: blood_and_immune_upper_slim synonym: "BFU-E" RELATED abbreviation [] synonym: "blast forming unit erythroid" RELATED [] synonym: "burst forming unit erythroid" RELATED [] synonym: "CFU-E" RELATED abbreviation [] synonym: "colony forming unit erythroid" RELATED [] synonym: "erythroid stem cell" RELATED [] xref: BTO:0004911 xref: NCIt:C12526 is_a: CL:0000764 ! erythroid lineage cell is_a: CL:0000839 ! myeloid lineage restricted progenitor cell relationship: located_in UBERON:0002390 ! hematopoietic system [Term] id: CL:0000040 name: monoblast def: "A myeloid progenitor cell committed to the monocyte lineage. This cell is CD11b-positive, has basophilic cytoplasm, euchromatin, and the presence of a nucleolus." [GOC:add, http://en.wikipedia.org/wiki/Monoblast, http://www.copewithcytokines.de, PMID:1104740] comment: Morphology: mononuclear cell, diameter 12-20 _M, non-granular, N/C ratio 3/1 - 4/1; markers: CD11b (shared with many other myeloid cells); location: Adult: bone marrow; fetal: liver, Yolk Sac; role or process: hematopoiesis, monocyte development; lineage: hematopoietic, myeloid. synonym: "CFU-M" RELATED abbreviation [] synonym: "colony forming unit macrophage" RELATED [] synonym: "colony forming unit monocyte" RELATED [] synonym: "monocyte stem cell" RELATED [] xref: CALOHA:TS-1195 xref: FMA:83553 xref: NCIt:C13014 xref: SNOMEDCT:53945006 is_a: CL:0000763 ! myeloid cell is_a: CL:0002194 ! monopoietic cell [Term] id: CL:0000041 name: mature eosinophil def: "A fully differentiated eosinophil, a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin. Cells are also differentiated from other granulocytes by a small nuclear-to-cytoplasm ratio (1:3). This cell type is CD49d-positive." [GOC:add, GOC:dsd, GOC:tfm, http://www.cap.org, ISBN:0721601464] comment: Eosinophils are CD125-positive (IL-5R), GM-CSFR-positive, IL-3R-positive, VLA4-positive. They can also express MHC Class I & II, CD4, CD9, CD11a, CD11b, CD11c, CD13, CD15, CD16, CD17, CD18, CD24, CD25,CD28, CD29, CD32, CD33, CD35, CD37, CD39, CD43, CD44, CD45, CD45RB, CD45RO, CD46, CD47, CD48, CD49d, CD49f, CD50, CD52, CD53, CD54, CD55, CD58, CD59, CD62L, CD63, CD65, CD66, CD69, CD71, CD76, CD80, CD81, CD82, CD86, CD87, CD88, CD89, CD92, CD95, CD97, CD98, CD99, CD100, CD101, CD116, CD117, CD119, CD120, CD123, CD124, CD125, CD131, CD137, CD139, CD148, CD149, CD151, CD153, CD156, CD162, CD161, CD162, CD165, CD174, CD182, CD183, CD191, CD192, CD193, CD196, CD213, IL9R, ad integrin, beta-7 integrin, FceRI, IL13Ra1, TGFbR, PAFR, LTB4R, C3aR, CystLT1R, CystLT2R, fMLPR, CRTH2 (PGD2 receptor), histamine 4R, IDO, KYN, PAR-2, Siglec-8, Siglec-10, LIR1, LIR2, LIR3, LIR7, TLR7, TLR8, and VLA-4. Eosinophils can also secrete CXCL1, eotaxin-1, GM-CSF, IL-2, IL-3, IL-4, IL-5, IL-6, IL-8, IL-10, IL-12, IL-13, IL-16, IL-18, IFN-gamma, LTC4, MIP-1alpha, NGF, PAF, RANTES, substance P, TGF-alpha, TGF-beta, TNF-alpha, and VIP. subset: human_reference_atlas synonym: "mature eosinocyte" EXACT [] synonym: "mature eosinophil leucocyte" EXACT [] synonym: "mature eosinophil leukocyte" EXACT [] synonym: "polymorphonuclear leucocyte" BROAD [] synonym: "polymorphonuclear leukocyte" BROAD [] is_a: CL:0000771 ! eosinophil property_value: IAO:0000116 "The status of eosinophils as true professional antigen presenting cells is unclear, despite their ability to present exogenous peptides and peptides processed from exogenous proteins (in certain studies) via MHC Class II and activate T cells. Per the equivalence axioms, 'eosinophil' is reasoned to be a subclass of 'professional antigen presenting cell', though the role of eosinophils as such in the body may be limited." xsd:string property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000042 name: neutrophilic myeloblast def: "A myeloblast committed to the neutrophil lineage. This cell type is GATA-1 positive, C/EBPa-positive, AML-1-positive, c-myb-positive and has low expression of PU.1 transcription factor." [GOC:add, ISBN:0721601464, PMID:12560239, PMID:15514007] comment: These cells are CD11b-negative, CD15-negative, CD16-negative, CD35-negative, CD49d-positive, CD68-positive, lactotransferrin-negative, and fMLP receptor-negative. They are found in the Band 3 fraction. synonym: "neutrophilic granuloblast" RELATED [] is_a: CL:0000834 ! neutrophil progenitor cell is_a: CL:0000835 ! myeloblast [Term] id: CL:0000043 name: mature basophil def: "A fully differentiated basophil, a granular leukocyte with an irregularly shaped, pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm that contains coarse granules of variable size. Basophils contain vasoactive amines such as histamine and serotonin, which are released on appropriate stimulation." [GOC:add, GOC:dsd, GOC:tfm, http://www.cap.org, ISBN:0721601464, PMID:18466030, PMID:19231594, PMID:20837449] comment: Mature basophils are also capable of producing IL-3, IL-5, IL-6, IL-8, IL-13, IL-25, CCL22, tslp, vegf, and LTC4. synonym: "mature basophil leucocyte" EXACT [] synonym: "mature basophil leukocyte" EXACT [] synonym: "polymorphonuclear leucocyte" BROAD [] synonym: "polymorphonuclear leukocyte" BROAD [] xref: BTO:0001026 xref: CALOHA:TS-0688 is_a: CL:0000151 ! secretory cell is_a: CL:0000767 ! basophil [Term] id: CL:0000047 name: neural stem cell def: "An undifferentiated neural cell that originates from the neuroectoderm and has the capacity both to perpetually self-renew without differentiating and to generate multiple central nervous system neuronal and glial cell types." [PMID:30639325] synonym: "neuronal stem cell" EXACT [PMID:16305818] synonym: "NSC" EXACT [] xref: BTO:0002881 xref: CALOHA:TS-2360 xref: FMA:86684 xref: NCIt:C12985 is_a: CL:0002319 ! neural cell [Term] id: CL:0000048 name: multi fate stem cell def: "A stem cell that can give rise to multiple lineages of cells." [GOC:add] synonym: "multi-fate stem cell" EXACT [] synonym: "multifate stem cell" EXACT [] synonym: "multipotent cell" EXACT [] synonym: "multipotent stem cell" EXACT [] xref: FMA:84789 is_a: CL:0000034 ! stem cell [Term] id: CL:0000049 name: common myeloid progenitor def: "A progenitor cell committed to myeloid lineage, including the megakaryocyte and erythroid lineages." [GOC:add, ISBN:0878932437, MESH:D023461] comment: This cell type is intended to be compatible with any vertebrate common myeloid progenitor. For mammalian CMP known to be CD34-positive, please use the term 'common myeloid progenitor, CD34-positive' (CL_0001059). subset: human_reference_atlas synonym: "CFU-GEMM" RELATED abbreviation [ISBN:0878932437] synonym: "CFU-S" RELATED abbreviation [ISBN:0878932437] synonym: "CMP" RELATED abbreviation [ISBN:0878932437] synonym: "colony forming unit granulocyte, erythrocyte, macrophage, and megakaryocyte" RELATED [ISBN:0878932437] synonym: "common myeloid precursor" EXACT [] synonym: "multipotential myeloid stem cell" RELATED [ISBN:0878932437] synonym: "myeloid stem cell" RELATED [ISBN:0878932437] synonym: "pluripotent stem cell (bone marrow)" RELATED [ISBN:0878932437] xref: BTO:0004730 is_a: CL:0002032 ! hematopoietic oligopotent progenitor cell disjoint_from: CL:0000050 ! megakaryocyte-erythroid progenitor cell disjoint_from: CL:0000051 ! common lymphoid progenitor disjoint_from: CL:0000557 ! granulocyte monocyte progenitor cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000050 name: megakaryocyte-erythroid progenitor cell def: "A progenitor cell committed to the megakaryocyte and erythroid lineages." [GOC:add, GOC:dsd, GOC:tfm, http://en.wikipedia.org/wiki/Megakaryocyte-erythroid_progenitor_cell, MESH:D055015, PMID:16647566] comment: MEPs are reportedly CD19-negative, CD34-negative, CD45RA-negative, CD110-positive, CD117-positive, and SCA1-negative and reportedly express the transcription factors GATA-1 and NF-E2. subset: human_reference_atlas synonym: "CFU-EM" EXACT [] synonym: "CFU-MegE" EXACT [] synonym: "colony forming unit erythroid megakaryocyte" EXACT [] synonym: "Meg/E progenitor" EXACT [] synonym: "megakaryocyte/erythrocyte progenitor" EXACT [] synonym: "megakaryocyte/erythroid progenitor cell" EXACT [] synonym: "MEP" EXACT [] is_a: CL:0000763 ! myeloid cell is_a: CL:0002032 ! hematopoietic oligopotent progenitor cell disjoint_from: CL:0000557 ! granulocyte monocyte progenitor cell disjoint_from: CL:0002009 ! macrophage dendritic cell progenitor property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000051 name: common lymphoid progenitor def: "A oligopotent progenitor cell committed to the lymphoid lineage." [GOC:add, GOC:dsd, GOC:tfm, PMID:10407577, PMID:16551251] comment: CLP are CD7-positive, CD10-positive, CD19-negative, CD34-positive, CD45RA-positive, CD79a-negative, CD127-positive, AA4.1-positive, RAG-negative, Sca-1-low, sIgM-negative, sIgD-negative, TdT-negative, Vpre-B-negative, and pre-BCR-negative. Expression of transcription factors include E2A-positive, EBF-positive, Ikaros-negative, PU.1-negative, and Pax5-negative. subset: human_reference_atlas synonym: "CLP" RELATED abbreviation [] synonym: "committed lymphopoietic stem cell" RELATED [] synonym: "common lymphocyte precursor" EXACT [] synonym: "common lymphocyte progenitor" EXACT [] synonym: "common lymphoid precursor" EXACT [] synonym: "early lymphocyte progenitor" RELATED [] synonym: "ELP" RELATED abbreviation [] synonym: "lymphoid stem cell" RELATED [] synonym: "lymphopoietic stem cell" RELATED [] is_a: CL:0002032 ! hematopoietic oligopotent progenitor cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000055 name: non-terminally differentiated cell def: "A precursor cell with a limited number of potential fates." [SANBI:mhl] comment: define using PATO mulit-potent or oligopotent? synonym: "blast cell" EXACT [] xref: BTO:0000125 xref: FMA:84782 xref: NCIt:C12918 xref: SNOMEDCT:312256009 is_a: CL:0000000 ! cell is_a: EFO:0000324 ! cell type [Term] id: CL:0000056 name: myoblast def: "A cell that is commited to differentiating into a muscle cell. Embryonic myoblasts develop from the mesoderm. They undergo proliferation, migrate to their various sites, and then differentiate into the appropriate form of myocytes. Myoblasts also occur as transient populations of cells in muscles undergoing repair." [GOC:tfm, MESH:D032446, PMID:21849021] xref: BTO:0000222 xref: CALOHA:TS-0650 xref: FBbt:00005083 xref: FMA:70335 xref: NCIt:C33151 xref: VHOG:0001529 is_a: CL:0000055 ! non-terminally differentiated cell is_a: CL:0002321 ! embryonic cell (metazoa) relationship: RO:0000056 UBERON:0000922 ! participates_in embryo [Term] id: CL:0000057 name: fibroblast def: "A connective tissue cell which secretes an extracellular matrix rich in collagen and other macromolecules. Flattened and irregular in outline with branching processes; appear fusiform or spindle-shaped." [http://en.wikipedia.org/wiki/Fibroblast, ISBN:0517223651, MESH:D005347] comment: These cells may be vimentin-positive, fibronectin-positive, fsp1-positive, MMP-1-positive, collagen I-positive, collagen III-positive, and alpha-SMA-negative. subset: general_cell_types_upper_slim subset: human_reference_atlas xref: BTO:0000452 xref: CALOHA:TS-0362 xref: FMA:63877 xref: NCIT:C12482 xref: NCIt:C12482 xref: NIFSTD:nlx_cell_20090201 xref: SNOMEDCT:52547004 xref: VHOG:0001482 is_a: CL:0000000 ! cell is_a: EFO:0000324 ! cell type relationship: located_in UBERON:0002384 ! connective tissue property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000062 name: osteoblast def: "Skeletogenic cell that secretes osteoid, is capable of producing mineralized (hydroxyapatite) matrix, is located adjacent to or within osteoid tissue, and arises from the transformation of a preosteoblast cell." [GO_REF:0000034, MESH:D010006] comment: non-encoded relationships from VSAO - capable_of_producing VSAO:0000020 xref: BTO:0001593 xref: CALOHA:TS-0720 xref: FMA:66780 xref: NCIt:C12568 xref: SNOMEDCT:48156001 is_a: CL:0000055 ! non-terminally differentiated cell relationship: located_in UBERON:0001474 ! bone element [Term] id: CL:0000065 name: ependymal cell def: "A neurectoderm derived cell that lines the neural lumen." [GOC:tfm, JB:jb, PMID:9550134] subset: human_reference_atlas synonym: "ependymocyte" EXACT [] xref: BTO:0001724 xref: FMA:70550 is_a: CL:0000066 ! epithelial cell relationship: RO:0002104 GO:0005929 ! has_plasma_membrane_part cilium property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000066 name: epithelial cell def: "A cell that is usually found in a two-dimensional sheet with a free surface. The cell has a cytoskeleton that allows for tight cell to cell contact and for cell polarity where apical part is directed towards the lumen and the basal part to the basal lamina." [FB:ma, GOC:tfm, MESH:D004847] subset: general_cell_types_upper_slim subset: human_reference_atlas synonym: "epitheliocyte" EXACT [] xref: BTO:0000414 xref: CALOHA:TS-2026 xref: CARO:0000077 xref: FBbt:00000124 xref: FMA:66768 xref: NCIt:C12578 xref: NIFSTD:sao441624014 xref: SNOMEDCT:4212006 xref: WBbt:0003672 is_a: CL:0000000 ! cell is_a: EFO:0000324 ! cell type disjoint_from: CL:0000738 ! leukocyte property_value: depicted:by https://www.swissbiopics.org/api/image/Epithelial_cells.svg xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000071 name: blood vessel endothelial cell def: "An endothelial cell that lines the vasculature." [GOC:tfm] subset: human_reference_atlas synonym: "cuboidal endothelial cell of vascular tree" EXACT [] is_a: CL:0000115 ! endothelial cell relationship: located_in UBERON:0001981 ! blood vessel property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000077 name: mesothelial cell def: "A flattened epithelial cell of mesenchymal origin that lines the serous cavity." [GOC:tfm, ISBN:0721662544] subset: human_reference_atlas synonym: "mesotheliocyte" EXACT [] xref: FMA:66773 is_a: CL:0000066 ! epithelial cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000080 name: circulating cell def: "A cell which moves among different tissues of the body, via blood, lymph, or other medium." [GOC:add] xref: ZFA:0009043 is_a: CL:0000988 ! hematopoietic cell relationship: located_in UBERON:0002390 ! hematopoietic system [Term] id: CL:0000081 name: blood cell def: "A cell found predominately in the blood." [GOC:add, GOC:tfm] subset: general_cell_types_upper_slim xref: FMA:62844 xref: MESH:D001773 xref: SNOMEDCT:63370004 is_a: CL:0000988 ! hematopoietic cell relationship: located_in UBERON:0000178 ! blood relationship: located_in UBERON:0002390 ! hematopoietic system [Term] id: CL:0000083 name: epithelial cell of pancreas def: "An epithelial cell of the pancreas." [GOC:tfm] synonym: "pancreas epithelial cell" EXACT [] synonym: "pancreatic epithelial cell" EXACT [] xref: BTO:0000028 xref: NCIt:C93173 is_a: CL:0000066 ! epithelial cell is_a: EFO:0002966 ! pancreatic cell relationship: located_in UBERON:0001264 ! pancreas [Term] id: CL:0000084 name: T cell def: "A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." [GOC:add, GOC:tfm, ISBN:0781735149] subset: general_cell_types_upper_slim subset: human_reference_atlas synonym: "immature T cell" RELATED [] synonym: "mature T cell" RELATED [] synonym: "T lymphocyte" EXACT [] synonym: "T-cell" EXACT [] synonym: "T-lymphocyte" EXACT [] xref: BTO:0000782 xref: CALOHA:TS-1001 xref: FMA:62870 xref: MESH:D013601 xref: MeSH:D013601 xref: NCIt:C12476 xref: SNOMEDCT:57184004 xref: VHOG:0001479 is_a: CL:0000542 ! lymphocyte disjoint_from: CL:0000945 ! lymphocyte of B lineage relationship: located_in UBERON:0002390 ! hematopoietic system property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000091 name: Kupffer cell def: "A tissue-resident macrophage of the reticuloendothelial system found on the luminal surface of the hepatic sinusoids involved in erythrocyte clearance. Markers include F4/80+, CD11b-low, CD68-positive, sialoadhesin-positive, CD163/SRCR-positive. Irregular, with long processes including lamellipodia extending into the sinusoid lumen, have flattened nucleus with cytoplasm containing characteristic invaginations of the plasma membrane (vermiform bodies); lie within the sinusoid lumen attached to the endothelial surface; derived from the bone marrow, form a major part of the body's mononuclear phagocyte system." [GO_REF:0000031, GOC:add, GOC:tfm, ISBN:0517223651, MESH:D007728, PMID:15771589, PMID:17105582] comment: Markers: Mouse: F4/80+, CD11b-low, CD68+, sialoadhesin+, CD163/SRCR+; role or process: immune, antigen-presentation, clearance of senescent erythrocytes, iron metabolism. Kupffer cells are also reportedly C3aR-positive, CD14-low, CD54-positive, CD88-positive, and CD284-positive. They are also capable of producing IL-1, IL-6, TNF-alpha, nitric oxide, PGD2, PGE2, PGF2alpha, and TXA2. subset: human_reference_atlas synonym: "hepatic macrophage" EXACT [] synonym: "littoral cell of hepatic sinusoid" EXACT [] synonym: "liver macrophage" EXACT [] synonym: "macrophagocytus stellatus" EXACT [] synonym: "stellate cell of von Kupffer" EXACT [] synonym: "von Kupffer cell" EXACT [] xref: BTO:0000685 xref: FMA:14656 xref: NCIt:C12564 xref: SNOMEDCT:256002 is_a: CL:0000864 ! tissue-resident macrophage relationship: part_of UBERON:0004647 ! liver lobule property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000092 name: osteoclast def: "A specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue, which typically differentiates from monocytes. This cell has the following markers: tartrate-resistant acid phosphatase type 5-positive, PU.1-positive, c-fos-positive, nuclear factor NF-kappa-B p100 subunit-positive, tumor necrosis factor receptor superfamily member 11A-positive and macrophage colony-stimulating factor 1 receptor-positive." [GO_REF:0000031, GOC:add, GOC:tfm, ISBN:0781735149, PMID:10428500, PMID:15055519, PMID:17380158] comment: Morphology: Highly vesicular; markers: Surface: RANK, cFMS (MCSF receptor); Secreted: cathepsin K and TRAP (tartate resistant acid phosphatase); transcription factors: PU.1, cFOS, MITF, NFkB (p52); role or process: tissue remodelling: bone resorption; lineage: hematopoietic, myeloid. synonym: "chondroclast" RELATED [] xref: BTO:0000968 xref: CALOHA:TS-0721 xref: FMA:66781 xref: MESH:D010010 xref: NCIt:C12570 xref: SNOMEDCT:27770000 is_a: CL:0000766 ! myeloid leukocyte [Term] id: CL:0000094 name: granulocyte def: "A leukocyte with abundant granules in the cytoplasm." [GOC:amm, GOC:tfm, http://en.wikipedia.org/wiki/Granulocyte, MESH:D006098] subset: human_reference_atlas synonym: "granular leucocyte" EXACT [] synonym: "granular leukocyte" EXACT [] synonym: "polymorphonuclear leukocyte" EXACT [] xref: BTO:0000539 xref: BTO:0001026 xref: CALOHA:TS-0422 xref: FMA:62854 xref: NCIt:C12530 xref: SNOMEDCT:256909001 is_a: CL:0000081 ! blood cell is_a: CL:0000766 ! myeloid leukocyte relationship: located_in UBERON:0002390 ! hematopoietic system property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000096 name: mature neutrophil def: "A fully differentiated neutrophil, a granular leukocyte having a nucleus with three to five lobes connected by slender threads, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes. They are produced in bone marrow at a rate of 5e10-10e10/day and have a half-life of 6-8 hours. Neutrophils are CD15-positive, CD16-positive, CD32-positive, CD43-positive, CD181-positive, and CD182-positive." [GOC:add, GOC:tfm, http://www.cap.org, MESH:D009504, PMID:11138776, PMID:12560239, PMID:15514007, PMID:7880385] comment: Neutrophils are also capable of secreting GRO-alpha, IL-1beta, IL-1ra, IL-3, IL-12, IP-10, MIG, MIP-1alpha, MIP-1beta, TGF-beta, TNF-alpha, VEGF, and anti-microbial peptides. They can positively influence the chemotaxis of basophils, T-cells, monocytes, macrophages, dendritic cells, and other neutrophils. Neutrophils are also CD35-positive, CD64-positive, CD89-positive, CD184-positive, and fMLP receptor-positive Ly-6G-positive (mouse), TLR2-low, TLR4-low, and lineage-negative (CD2, CD3, CD5, CD9, CD19, CD36, CD49d, CD56, CD61, CD235a (glycophorin-A)). subset: human_reference_atlas synonym: "mature neutrocyte" EXACT [] synonym: "mature neutrophil leucocyte" EXACT [] synonym: "mature neutrophil leukocyte" EXACT [] synonym: "mature neutrophilic leucocyte" EXACT [] synonym: "mature neutrophilic leukocyte" EXACT [] synonym: "PMN" EXACT [] synonym: "poly" BROAD [] synonym: "polymorphonuclear leucocyte" BROAD [] synonym: "polymorphonuclear leukocyte" BROAD [] synonym: "polymorphonuclear neutrophil" EXACT [] synonym: "polynuclear neutrophilic leucocyte" EXACT [] synonym: "polynuclear neutrophilic leukocyte" EXACT [] xref: BTO:0003473 is_a: CL:0000775 ! neutrophil property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000097 name: mast cell def: "A cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. Progenitors leave bone marrow and mature in connective and mucosal tissue. Mature mast cells are found in all tissues, except the bloodstream. Their phenotype is CD117-high, CD123-negative, CD193-positive, CD200R3-positive, and FceRI-high. Stem-cell factor (KIT-ligand; SCF) is the main controlling signal of their survival and development." [GOC:add, GOC:dsd, GOC:tfm, ISBN:068340007X, MESH:D008407, PMCID:PMC1312421, PMCID:PMC2855166, PMID:15153310, PMID:16455980, PMID:19671378, PMID:212366338, PMID:9354811] comment: Mast cells are generally integrin beta-7-negative and positive for TLR2, TLR3, TLR4, TLR5, TLR7, TLR9, C3aR, C5aR, CR3, CR4, VEGF, FGF2, and renin. They can express MHC Class I and II on their surface. Activated murine mast cells (IgE+Antigen) were capable of expressing the following co-stimulatory molecules: CD95 (Fas), CD120b, CD137 (4-1BB), CD153 (CD30L), CD154 (CD40L), GITR, ICOSL, OX40L, PD-L1, and PD-L2. Note that there was some mouse strain variation. Mast cells have also been demonstrated to produce bFGF, CCL2, CCL4, CCL5, CCL11, CCL20, CXCL2, CXCL8, CXCL10, GM-CSF, IFN-gamma, IL-1, IL-2, IL-3, IL-8, IL-10, IL-11, IL-12, IL-13, IL-16, IL-25, IL-18, MIP-1, prostaglandin D2, SCF, TGF-beta, TNF-alpha, TSLP, VEGF, and XCL1. They express the transcription factors Transcription factors AP-1, GATA1, MITF, Notch2, PIAS3, PU.1, and STAT5. subset: blood_and_immune_upper_slim subset: human_reference_atlas synonym: "histaminocyte" EXACT [] synonym: "labrocyte" EXACT [ISBN:0721601464] synonym: "mastocyte" EXACT [ISBN:0721601464] synonym: "tissue basophil" RELATED [ISBN:068340007X] xref: BTO:0000830 xref: CALOHA:TS-0603 xref: FMA:66784 xref: NCIt:C12747 xref: SNOMEDCT:6445007 is_a: CL:0000151 ! secretory cell is_a: CL:0000766 ! myeloid leukocyte property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000099 name: interneuron def: "Most generally any neuron which is not motor or sensory. Interneurons may also refer to neurons whose axons remain within a particular brain region as contrasted with projection neurons which have axons projecting to other brain regions." [GOC:tfm, MESH:D007395] subset: human_reference_atlas xref: BTO:0003811 xref: FBbt:00005125 xref: FMA:67313 xref: WBbt:0005113 is_a: CL:0000540 ! neuron property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000100 name: motor neuron def: "An efferent neuron that passes from the central nervous system or a ganglion toward or to a muscle and conducts an impulse that causes or inhibits movement." [MESH:D009046, PMID:16875686] subset: human_reference_atlas synonym: "motoneuron" EXACT [] xref: BTO:0000312 xref: FBbt:00005123 xref: FMA:83617 xref: NCIt:C12644 xref: NIFSTD:sao1460710779 xref: SNOMEDCT:31513005 xref: WBbt:0005409 is_a: CL:0000540 ! neuron relationship: part_of UBERON:0001017 ! central nervous system property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000101 name: sensory neuron def: "Any neuron having a sensory function; an afferent neuron conveying sensory impulses." [ISBN:0721662544] xref: BTO:0001037 xref: FBbt:00005124 xref: FMA:84649 xref: MESH:D011984 xref: WBbt:0005759 is_a: CL:0000540 ! neuron [Term] id: CL:0000112 name: columnar neuron synonym: "columnar neuron" RELATED [] is_a: CL:0000540 ! neuron relationship: located_in UBERON:0001017 ! central nervous system [Term] id: CL:0000115 name: endothelial cell def: "An endothelial cell comprises the outermost layer or lining of anatomical structures and can be squamous or cuboidal. In mammals, endothelial cell has vimentin filaments and is derived from the mesoderm." [GOC:tfm, http://en.wikipedia.org/wiki/Endothelial_cell, https://sourceforge.net/tracker/?func=detail&atid=440764&aid=3364936&group_id=36855, MESH:D042783, PMID:21275341] comment: From FMA: 9.07.2001: Endothelial cell has always been classified as a kind of epithelial cell, specifically a squamous cell but that is not true. First, endothelial cell can either be squamous or cuboidal (e.g. high-endothelial cell) and secondly, it has different embryological derivation (mesodermal) than a true epithelial cell (ectodermal and endodermal). The basis for present classification is the fact that it comprises the outermost layer or lining of anatomical structures (location-based) but a better structural basis for the differentia is the cytoskeleton of the cell. Endothelial cell has vimentin filaments while an epithelial cell has keratin filaments. [Onard]. subset: human_reference_atlas synonym: "endotheliocyte" EXACT [] xref: BTO:0001176 xref: CALOHA:TS-0278 xref: FMA:66772 xref: NCIt:C12865 xref: SNOMEDCT:45709008 is_a: CL:0000066 ! epithelial cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000123 name: neuron associated cell (sensu Vertebrata) is_a: CL:0002319 ! neural cell [Term] id: CL:0000125 name: glial cell def: "A non-neuronal cell of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu. Guide neuronal migration during development, and exchange metabolites with neurons." [MESH:D009457] comment: Not all glial cells develop from glioblasts, with microglia developing from the mesoderm instead. See https://github.com/obophenotype/cell-ontology/issues/1571 subset: general_cell_types_upper_slim synonym: "neuroglia" RELATED [] synonym: "neuroglial cell" EXACT [] xref: BTO:0000524 xref: BTO:0002606 xref: CALOHA:TS-0415 xref: FBbt:00005144 xref: FMA:54536 xref: MeSH:D009457 xref: NCIt:C12615 xref: NIFSTD:sao313023570 xref: SNOMEDCT:2156000 is_a: CL:0002319 ! neural cell relationship: located_in UBERON:0001017 ! central nervous system [Term] id: CL:0000127 name: astrocyte def: "A class of large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord. Astrocytes (from 'star' cells) are irregularly shaped with many long processes, including those with 'end feet' which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier. They regulate the extracellular ionic and chemical environment, and 'reactive astrocytes' (along with microglia) respond to injury." [GOC:dsd, GOC:tfm, http://en.wikipedia.org/wiki/Astrocyte, MESH:D001253, PMID:11746784, PMID:12162730, PMID:12898703, PMID:20942978] comment: Astrocytes are reportedly CD68-negative, CD121a-positive, CD184-positive, CD192-positive, CRF-positive, EGFR-positive, GFAP-positive, GLUT1-positive, MBP-negative, and NGFR-positive. subset: human_reference_atlas synonym: "astrocytic glia" EXACT [] xref: BTO:0000099 xref: CALOHA:TS-0060 xref: FMA:54537 xref: NCIt:C12477 xref: NIFSTD:sao1394521419 xref: SNOMEDCT:78399007 is_a: CL:0000125 ! glial cell relationship: located_in UBERON:0001017 ! central nervous system property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000128 name: oligodendrocyte def: "A class of large neuroglial (macroglial) cells in the central nervous system. Form the insulating myelin sheath of axons in the central nervous system." [http://en.wikipedia.org/wiki/Oligodendrocyte, MESH:D009836] comment: Oligodendrocytes are reportedly MDP-positive and CD4-negative. subset: human_reference_atlas synonym: "oligodendroglia" RELATED [] synonym: "OLs" EXACT [PMID:8734446] xref: BTO:0000962 xref: CALOHA:TS-0709 xref: FMA:54540 xref: MeSH:D009836 xref: NCIt:C12618 xref: NIFSTD:sao844118448 xref: SNOMEDCT:66254009 is_a: CL:0000125 ! glial cell relationship: located_in UBERON:0001017 ! central nervous system property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000129 name: microglial cell def: "A central nervous system macrophage found in the parenchyma of the central nervous system. Marker include CD11b-positive, F4/80-positive, and CD68-positive." [GOC:add, GOC:dsd, GOC:tfm, http://en.wikipedia.org/wiki/Microglia, ISBN:0721601464, MESH:D017628, PMID:11517395, PMID:12430718, PMID:14561199, PMID:14612429, PMID:16177057, PMID:19461673, PMID:2089275] comment: Unlike macroglial cells, microglial cells arise from hematopoietic stem cells in the yolk sac during early embryogenesis that populate the central nervous system. They derive from embryonic mesoderm and are not from neuroectoderm where glioblast develops from. Markers: Mouse: CD11b+, F4/80+, CD68+. They represent ~12% of the cells in the CNS, but they are not uniformly distributed within the CNS. A normal adult mouse brain has approximately 3.5x10e6 microglia. Microglia are also reportedly CD3-negative, CD4-positive, CD8-negative, CD11b-positive, CD11c-high, CD14-negative, CD19-negative, CD45-low, CD56-negative, CD163-negative, CD200R-positive, CD281-positive, CD282-positive, CD283-positive, CD284-positive, CD285-positive, CD286-positive, CD287-positive, CD288-positive, CD289-positive, Gr1-negative, nestin-positive, and PU.1-positive. {xref="PMID:23616747"} subset: human_reference_atlas synonym: "brain macrophage" BROAD [] synonym: "brain-resident macrophage" EXACT [] synonym: "hortega cells" EXACT [http://www.copewithcytokines.de/] synonym: "MF.microglia.CNS" RELATED [] synonym: "microglia" RELATED OMO:0003004 [doi:10.1038/s41598-020-66092-9] synonym: "microgliocyte" EXACT [http://www.copewithcytokines.de/] xref: BTO:0000078 xref: BTO:0000962 xref: FMA:54539 xref: FMA:54540 xref: MeSH:D017628 xref: NCIt:C12616 xref: NIFSTD:sao789292116 xref: SNOMEDCT:63483002 is_a: CL:0000125 ! glial cell is_a: CL:0000878 ! central nervous system macrophage relationship: located_in UBERON:0001017 ! central nervous system property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000136 name: fat cell def: "A fat-storing cell found mostly in the abdominal cavity and subcutaneous tissue of mammals. Fat is usually stored in the form of triglycerides." [MESH:D017667] subset: general_cell_types_upper_slim subset: human_reference_atlas synonym: "adipocyte" EXACT [] synonym: "adipose cell" EXACT [] xref: BTO:0000443 xref: CALOHA:TS-0012 xref: FMA:63880 xref: NCIt:C12556 xref: NCIt:C32991 xref: SNOMEDCT:24826007 is_a: CL:0000000 ! cell is_a: EFO:0000324 ! cell type property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000138 name: chondrocyte def: "Skeletogenic cell that is terminally differentiated, secretes an avascular, GAG-rich matrix, is embedded in cartilage tissue matrix, retains the ability to divide, and develops from a chondroblast cell." [GO_REF:0000034, MESH:D019902] synonym: "cartilage cell" EXACT [] xref: BTO:0000249 xref: CALOHA:TS-0138 xref: FMA:66782 xref: NCIt:C12557 xref: SNOMEDCT:433180002 xref: SNOMEDCT:81272008 is_a: CL:0000151 ! secretory cell is_a: CL:0000499 ! stromal cell relationship: located_in EFO:0000949 ! cartilage [Term] id: CL:0000148 name: melanocyte def: "A pigment cell derived from the neural crest. Contains melanin-filled pigment granules, which gives a brown to black appearance." [SANBI:mhl] subset: general_cell_types_upper_slim subset: human_reference_atlas synonym: "melanophore" NARROW [] xref: BTO:0000847 xref: CALOHA:TS-0613 xref: FMA:70545 xref: MESH:D008544 xref: NCIt:C12591 xref: SNOMEDCT:9683001 xref: VHOG:0001679 is_a: CL:0000000 ! cell is_a: EFO:0000324 ! cell type relationship: located_in UBERON:0001003 ! skin epidermis property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000151 name: secretory cell def: "A cell that specializes in controlled release of one or more substances." [GOC:tfm, ISBN:0721662544] subset: human_reference_atlas xref: BTO:0003659 xref: FMA:86916 xref: NCIt:C13055 is_a: CL:0000000 ! cell is_a: EFO:0000324 ! cell type property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000158 name: club cell def: "A non-mucous, epithelial secretory cell that is part of the tracheobronchial tree. A club cell has short microvilli but no cilia. A club cell is able to multiply and differentiate into ciliated cells to regenerate the bronchiolar epithelium and it also protects the tracheobronchial epithelium." [DOI:10.1183/09031936.00146609, DOI:10.1378/chest.12-2762, GOC:tfm, PMID:28128362, PMID:29874100, PMID:7905712] subset: human_reference_atlas synonym: "Clara cell" EXACT [] xref: BTO:0004811 xref: FMA:14119 is_a: CL:0000151 ! secretory cell is_a: CL:0002368 ! respiratory epithelial cell relationship: part_of UBERON:0002185 ! bronchus property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000160 name: goblet cell def: "A cell of the epithelial lining that produce and secrete mucins." [MESH:D020397] synonym: "chalice cell" EXACT [] xref: BTO:0001540 xref: FMA:13148 xref: http://en.wikipedia.org/wiki/Goblet_cell is_a: CL:0000066 ! epithelial cell is_a: CL:0000151 ! secretory cell [Term] id: CL:0000162 name: parietal cell def: "A large, oval stomach epithelial cell with a central nucleus; source of gastric acid. Secretes HCl." [GOC:tfm, ISBN:0517223651] synonym: "oxyntic cell" EXACT [] xref: BTO:0001780 xref: FMA:62901 xref: NCIt:C12594 is_a: CL:0000066 ! epithelial cell is_a: CL:0000151 ! secretory cell relationship: located_in UBERON:0000945 ! stomach [Term] id: CL:0000163 name: endocrine cell def: "A cell of an endocrine gland, ductless glands that secrete substances which are released directly into the circulation and which influence metabolism and other body functions." [MESH:D055098] subset: general_cell_types_upper_slim subset: human_reference_atlas synonym: "endocrinocyte" EXACT [] xref: FMA:83809 xref: MeSH:A06.407 is_a: CL:0000151 ! secretory cell relationship: part_of UBERON:0000949 ! endocrine system property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000165 name: neuroendocrine cell def: "A neuron that is capable of some hormone secretion in response to neuronal signals." [MESH:D055099] comment: The neurosecretory cell is neither an ordinary neuron nor an endocrine cell, but a combination of both. Its neuronal features resemble those of ordinary neurons concerning both structure and function. The production of a visible secretory material marks the neurosecretory neuron as a gland cell, and the fact that extractable cellular products act in the manner of hormones places it in the realm of endocrine elements. \n\nThe modern definition of neurosecretion has evolved to include the release of any neuronal secretory product from a neuron. {xref="https://www.clinicalkey.com/#!/content/book/3-s2.0-B9780323555968000073", xref="PMID:5342440"} subset: human_reference_atlas synonym: "neurosecretory cell" RELATED [] synonym: "neurosecretory neuron" RELATED [] xref: BTO:0002691 xref: FBbt:00005130 xref: FMA:83810 xref: NCIt:C12485 is_a: CL:0000066 ! epithelial cell is_a: CL:0000163 ! endocrine cell is_a: CL:0000540 ! neuron property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000168 name: insulin secreting cell xref: BTO:0000783 xref: NCIt:C32199 is_a: UBERON:0000016 ! endocrine pancreas [Term] id: CL:0000169 name: type B pancreatic cell def: "A cell that secretes insulin and is located towards the center of the islets of Langerhans." [GOC:tfm, http://en.wikipedia.org/wiki/Pancreatic_b_cell, ISBN:0517223651] comment: Pancreatic beta cells are also reportedly CD284-positive. Upon activation, they upregulate their CD14 expression. subset: human_reference_atlas synonym: "B-cell of pancreatic islet" EXACT [FMA:70586] synonym: "beta cell" BROAD [ZFA:0009102] synonym: "beta cell islet" RELATED [MA:0002419] synonym: "beta cell of pancreatic islet" EXACT [FMA:70586] synonym: "insulin-secreting cell" EXACT [FMA:70586] synonym: "pancreatic B cell" EXACT [] synonym: "pancreatic B-cell" EXACT [FMA:70586] synonym: "pancreatic beta cell" EXACT [FMA:70586] synonym: "pancreatic islet core" EXACT [MA:0002419] synonym: "type B enteroendocrine cell" EXACT [FMA:70586] xref: BTO:0000783 xref: EV:0200009 xref: FMA:70586 xref: GOC:tfm xref: ISBN:0517223651 xref: MA:0002419 xref: NCIt:C32199 xref: ncithesaurus:Beta_Cell xref: Wikipedia:Pancreatic_b_cell is_a: CL:0000083 ! epithelial cell of pancreas is_a: CL:0000163 ! endocrine cell is_a: CL:0000168 ! insulin secreting cell relationship: part_of UBERON:0000006 ! islet of Langerhans property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000171 name: pancreatic A cell def: "A type of enteocrine cell found in the periphery of the islets of Langerhans that secretes glucagon." [GOC:tfm, ISBN:0721662544] subset: human_reference_atlas synonym: "alpha cell of islet of Langerhans" EXACT [] synonym: "pancreatic alpha cell" EXACT [] xref: BTO:0000990 xref: FMA:70585 xref: MESH:D050416 xref: NCIt:C32052 is_a: CL:0000083 ! epithelial cell of pancreas is_a: CL:0000163 ! endocrine cell is_a: EFO:0003861 ! pancreactic component relationship: located_in UBERON:0001264 ! pancreas relationship: part_of UBERON:0000006 ! islet of Langerhans property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000173 name: pancreatic D cell def: "A D cell located in the pancreas. Peripherally placed within the islets like type A cells; contains somatostatin." [FMA:0517223651, GOC:tfm] subset: human_reference_atlas synonym: "D-cell of pancreatic islet" EXACT [] synonym: "delta cell of islet" EXACT [] synonym: "delta cell of pancreatic islet" EXACT [] synonym: "pancreatic D-cell" EXACT [] synonym: "pancreatic delta cell" EXACT [] synonym: "somatostatin-secreting pancreatic cell" EXACT [] xref: BTO:0000803 xref: FMA:0517223651 xref: FMA:70587 xref: GOC:tfm is_a: CL:0000083 ! epithelial cell of pancreas is_a: CL:0000163 ! endocrine cell is_a: EFO:0003861 ! pancreactic component relationship: part_of UBERON:0000006 ! islet of Langerhans property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000178 name: Leydig cell def: "A Leydig cell is a testosterone-secreting cell in the interstitial area, between the seminiferous tubules, in the testis." [GOC:tfm, PMID:12050120] comment: Note that the Amphibian Anatomy Ontology (AA) has a class 'leydig cells' but this is unrelated synonym: "interstitial cell" BROAD [] synonym: "interstitial cell of Leydig" EXACT [] xref: BTO:0000755 xref: CALOHA:TS-1150 xref: EMAPA:29655 xref: FMA:72297 xref: MESH:D007985 xref: NCIt:C12609 is_a: CL:0000151 ! secretory cell relationship: located_in UBERON:0000473 ! testis relationship: part_of UBERON:0000949 ! endocrine system [Term] id: CL:0000182 name: hepatocyte def: "The main structural component of the liver. They are specialized epithelial cells that are organized into interconnected plates called lobules. Majority of cell population of liver, polygonal in shape, arranged in plates or trabeculae between sinusoids; may have single nucleus or binucleated." [GOC:tfm, http://en.wikipedia.org/wiki/Hepatocyte, ISBN:0412046911, MESH:D022781, PMID:19717280] comment: Hepatocytes are reportedly MHC Class I-positive and MHC Class II-positive. subset: human_reference_atlas xref: BTO:0000575 xref: CALOHA:TS-0454 xref: FMA:14515 xref: NCIt:C12588 is_a: CL:0000066 ! epithelial cell relationship: located_in UBERON:0002107 ! liver relationship: part_of UBERON:0004647 ! liver lobule property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000185 name: myoepithelial cell def: "Contractile cells resembling smooth muscle cells that are present in glands, notably the mammary gland, and aid in secretion. This cell has long weaving dendritic processes containing myofilament." [GOC:tfm, ISBN:0721662544] synonym: "basket epithelial cell" EXACT [] synonym: "myoepitheliocyte" EXACT [] xref: BTO:0002309 xref: CALOHA:TS-2379 xref: FMA:67799 is_a: CL:0000066 ! epithelial cell relationship: develops_from CL:0000222 ! mesodermal cell [Term] id: CL:0000187 name: muscle cell def: "A mature contractile cell, commonly known as a myocyte. This cell has as part of its cytoplasm myofibrils organized in various patterns." [MESH:D032342] synonym: "muscle fiber" EXACT [] synonym: "myocyte" EXACT [] xref: BTO:0000888 xref: BTO:0000902 xref: CALOHA:TS-2032 xref: FBbt:00005074 xref: FMA:67328 xref: NCIt:C12612 xref: NIFSTD:sao519252327 xref: WBbt:0003675 is_a: CL:0000211 ! electrically active cell is_a: EFO:0002956 ! musculo-skeletal system cell relationship: located_in UBERON:0000383 ! musculature of body property_value: depicted:by https://www.swissbiopics.org/api/image/Muscle_cells.svg xsd:anyURI [Term] id: CL:0000192 name: smooth muscle cell def: "A non-striated, elongated, spindle-shaped cell found lining the digestive tract, uterus, and blood vessels. They develop from specialized myoblasts (smooth muscle myoblast)." [http://en.wikipedia.org/wiki/Smooth_muscle_cell, MESH:D032389, PMID:9315361] subset: general_cell_types_upper_slim subset: human_reference_atlas synonym: "myocytes, smooth muscle" EXACT [MESH:D032389] synonym: "non-striated muscle cell" BROAD [] synonym: "SMCs" EXACT [PMID:9315361] synonym: "smooth muscle fiber" EXACT [] xref: BTO:0004576 xref: CALOHA:TS-2159 xref: FMA:14072 xref: NCIt:C13001 xref: NIFSTD:sao676858164 is_a: CL:0000187 ! muscle cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000202 name: auditory hair cell def: "A mechanoreceptor cell of the auditory or vestibular system that is sensitive to auditory stimuli. The accessory sensory structures are arranged so that appropriate stimuli cause movement of the hair-like projections (stereocilia and kinocilia) which relay the information centrally in the nervous system." [MESH:D006198, WikipediaVersioned:Hair_cell&oldid=1045345915] comment: In mammals these cells are located in the organ of Corti. synonym: "auditory receptor cell" RELATED [] xref: FMA:62364 xref: NIFSTD:sao630986029 is_a: CL:0000101 ! sensory neuron relationship: located_in UBERON:0001844 ! cochlea [Term] id: CL:0000211 name: electrically active cell def: "A cell whose function is determined by the generation or the reception of an electric signal." [FB:ma] is_a: CL:0000000 ! cell is_a: EFO:0000324 ! cell type [Term] id: CL:0000216 name: Sertoli cell def: "A supporting cell projecting inward from the basement membrane of seminiferous tubules. They surround and nourish the developing male germ cells and secrete androgen binding protein. Their tight junctions with the spermatogonia and spermatocytes provide a blood-testis barrier." [MESH:D012708] xref: BTO:0001238 xref: CALOHA:TS-0922 xref: FMA:72298 xref: NCIt:C12595 xref: VHOG:0001348 is_a: CL:0000077 ! mesothelial cell is_a: CL:0000151 ! secretory cell is_a: EFO:0002962 ! animal reproductive system cell relationship: located_in UBERON:0000990 ! reproductive system relationship: part_of EFO:0001404 ! seminiferous tubules [Term] id: CL:0000218 name: myelinating Schwann cell def: "A neuroglial cell of the peripheral nervous system which forms the insulating myelin sheaths of peripheral axons." [GOC:cvs, GOC:tfm, MESH:D012583] synonym: "neurilemmal cell" EXACT [] synonym: "peripheral neuroglial cell" BROAD [] synonym: "Schwann cell" BROAD [] xref: CALOHA:TS-0898 xref: FMA:62121 xref: NCIt:C12620 is_a: CL:0000125 ! glial cell relationship: located_in UBERON:0000010 ! peripheral nervous system [Term] id: CL:0000222 name: mesodermal cell def: "A cell of the middle germ layer of the embryo." [MESH:D008648] synonym: "mesoblast" EXACT [] synonym: "mesoderm cell" EXACT [] xref: FMA:72554 xref: NCIt:C33936 is_a: CL:0002321 ! embryonic cell (metazoa) relationship: RO:0000056 UBERON:0000922 ! participates_in embryo [Term] id: CL:0000232 name: erythrocyte def: "A red blood cell. In mammals, mature erythrocytes are biconcave disks containing hemoglobin whose function is to transport oxygen." [GOC:tfm, MESH:D004912] subset: blood_and_immune_upper_slim subset: human_reference_atlas synonym: "RBC" EXACT [] synonym: "red blood cell" EXACT [] xref: BTO:0000424 xref: CALOHA:TS-0290 xref: FMA:81100 xref: NCIt:C12521 xref: SNOMEDCT:41898006 is_a: CL:0000081 ! blood cell is_a: CL:0000764 ! erythroid lineage cell relationship: located_in UBERON:0000178 ! blood property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000233 name: platelet def: "A non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation." [GOC:add, GOC:dsd, GOC:tfm, http://en.wikipedia.org/wiki/Platelet, MESH:D001792, PMID:11110672, PMID:16987572, PMID:17204662, PMID:17479180, PMID:20414831] comment: Platelets are reportedly CCR1-positive, CCR2-negative, CCR3-positive, CCR4-positive, CCR5-negative, CCR6-negative, CCR7-negative, CCR8-negative, CCR9-negative, CCR10-negative, CD16-positive, CD23-positive, CD32-positive, CD40-positive, CD41-positive CD42-positive, CD61-positive, CD62P-positive, CD64-positive, CD89-positive, CD102-positive, CD147-positive (activated platelets), CD154-positive (activated platelets), CD162-positive, CD209, CD282-positive, CD284-positive, CD289-positive, CD181-negative, CD182-negative, CD183-negative, CD184-positive, CLEC2-positive, GPVI-positive, JAMC-positive, PAR1-positive, PAR2-negative, PAR3-positive, PAR4-positive, TSP1-positive, and TXA2R-positive. Platelets can reportedly produce CCL2, CCL3, CCL5, CCL7, CCL17, CD40L, CXCL1, CXCL4, CXCL4L1, CXCL5, CXCL7, CXCL8, CXCL12, EGF, factor V, factor VII, factor XI, factor XIII, bFGF, histamine, IGF-1, IL-1beta, PAI-1, PDGF, plasminogen, protein S, serotonin, TGF-beta, TFPI, VEGF, and vWF. subset: blood_and_immune_upper_slim subset: human_reference_atlas synonym: "anucleate thrombocyte" EXACT [] synonym: "blood platelet" EXACT [] synonym: "enucleate thrombocyte" EXACT [] xref: BTO:0000132 xref: CALOHA:TS-0803 xref: FMA:62851 xref: MeSH:D001792 xref: NCIt:C12520 xref: SNOMEDCT:16378004 is_a: CL:0000151 ! secretory cell is_a: CL:0000763 ! myeloid cell is_a: EFO:0002534 ! fetal blood cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000235 name: macrophage def: "A mononuclear phagocyte present in variety of tissues, typically differentiated from monocytes, capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells." [GO_REF:0000031, GOC:add, GOC:tfm, PMID:16213494, PMID:1919437] comment: Morphology: Diameter 30_M-80 _M, abundant cytoplasm, low N/C ratio, eccentric nucleus. Irregular shape with pseudopods, highly adhesive. Contain vacuoles and phagosomes, may contain azurophilic granules; markers: Mouse & Human: CD68, in most cases CD11b. Mouse: in most cases F4/80+; role or process: immune, antigen presentation, & tissue remodelling; lineage: hematopoietic, myeloid. subset: blood_and_immune_upper_slim subset: general_cell_types_upper_slim subset: human_reference_atlas synonym: "histiocyte" EXACT [] xref: BTO:0000801 xref: CALOHA:TS-0587 xref: FMA:63261 xref: FMA:83585 xref: MESH:D008264 xref: NCIt:C12558 xref: NIFSTD:sao185843373 xref: SNOMEDCT:58986001 is_a: CL:0000766 ! myeloid leukocyte relationship: located_in UBERON:0002390 ! hematopoietic system property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000236 name: B cell def: "A lymphocyte of B lineage that is capable of B cell mediated immunity." [GO_REF:0000031, GOC:add, GOC:tfm, ISBN:0781735149] subset: blood_and_immune_upper_slim subset: general_cell_types_upper_slim subset: human_reference_atlas synonym: "B lymphocyte" EXACT [] synonym: "B-cell" EXACT [] synonym: "B-lymphocyte" EXACT [] xref: BTO:0000776 xref: CALOHA:TS-0068 xref: FMA:62869 xref: MESH:D001402 xref: MeSH:D001402 xref: NCIt:C12474 xref: SNOMEDCT:112130006 xref: VHOG:0001480 is_a: CL:0000945 ! lymphocyte of B lineage relationship: located_in UBERON:0002390 ! hematopoietic system property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000250 name: obsolete megaspore def: "Obsolete. Use PO:0020019 from Plant Ontology instead. A haploid (1n) spore developing into a female gametophyte in heterosporous plants." [ISBN:0471245208] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.16.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/PO_0020019" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0020019 replaced_by: PO:0020019 [Term] id: CL:0000252 name: obsolete microspore def: "Obsolete. Use PO:0020048 from Plant Ontology instead. A haploid (1n) spore developing into a male gametophyte in heterosporous plants; the uninucleate pollen grain in seed plants." [ISBN:0471245208] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.16.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/PO_0020048" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0020048 replaced_by: PO:0020048 [Term] id: CL:0000286 name: hyphal cell def: "A cell of a filament of a fungal mycelium." [ISBN:08199377X] is_a: CL:0000521 ! fungal cell [Term] id: CL:0000292 name: obsolete guard cell def: "Obsolete. Use PO:0000293 from Plant Ontology instead. One of a pair of cells flanking the stomatal pore and causing the opening and closing of the pore by changes in turgor." [ISBN:0471245208] synonym: "stomatal guard cell" EXACT [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.16.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/PO_0000293" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0000293 replaced_by: PO:0000293 [Term] id: CL:0000312 name: keratinocyte def: "An epidermal cell which synthesizes keratin and undergoes a characteristic change as it moves upward from the basal layers of the epidermis to the cornified (horny) layer of the skin. Successive stages of differentiation of the keratinocytes forming the epidermal layers are basal cell, spinous or prickle cell, and the granular cell." [GOC:dsd, http://en.wikipedia.org/wiki/Keratinocyte, MESH:D015603, PMID:15582983, PMID:15749908, PMID:19727116] comment: Keratinocytes are reportedly CDw210a-negative, CDw210b-positive, CD281-positive, CD282-positive, CD285-positive, IL22Ra1-positive, Human keratinocytes are reportedly capable of secreting BD-2, BD-3, hCAP-18, CXCL1, CXCL5, CXCL8, elafin, MMP-3, NGAL, PDGF-A, S100A7, S100A8, and S100A9. Transcription factors: STAT3-positive. subset: human_reference_atlas synonym: "keratinized cell of epidermis" EXACT [] synonym: "malpighian cell" EXACT [] xref: BTO:0000667 xref: CALOHA:TS-0500 xref: FMA:62879 xref: NCIt:C12589 xref: SNOMEDCT:74447004 is_a: CL:0000362 ! epidermal cell relationship: located_in UBERON:0001003 ! skin epidermis property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000333 name: migratory neural crest cell def: "A cell derived from the specialized ectoderm flanking each side of the embryonic neural plate, which after the closure of the neural tube, forms masses of cells that migrate out from the dorsal aspect of the neural tube to spread throughout the body." [doi:10.1016/j.stem.2015.02.017] xref: FMA:86667 xref: NCIt:C33937 is_a: CL:0000048 ! multi fate stem cell is_a: CL:0002321 ! embryonic cell (metazoa) relationship: RO:0000056 UBERON:0000922 ! participates_in embryo [Term] id: CL:0000336 name: adrenal medulla chromaffin cell def: "A cell found within the adrenal medulla that secrete biogenic amine hormones upon stimulation." [GOC:tfm, http://www.britannica.com/EBchecked/topic/6405/adrenal-gland] synonym: "medullary chromaffin cell of adrenal gland" EXACT [FMA:69262] xref: BTO:0000047 xref: EMAPA:18426 xref: EV:0100135 xref: FMA:69262 xref: FMA:9604 xref: MA:0000116 xref: MAT:0000071 xref: MeSH:D000311 xref: NCIt:C12666 xref: SAEL:3 xref: TAO:0009167 xref: XAO:0000164 is_a: CL:0000165 ! neuroendocrine cell is_a: UBERON:0002368 ! endocrine gland [Term] id: CL:0000337 name: obsolete_neuroblast (sensu Vertebrata) xref: NCIt:C12991 is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/CL_0000031 [Term] id: CL:0000346 name: hair follicle dermal papilla cell def: "A specialized mesenchymal cell that resides in the dermal papilla located at the bottom of hair follicles. This cell plays a pivotal roles in hair formation, growth, and cycling." [GOC:tfm, PMID:9893172] comment: Are these really all stem cells? is_a: CL:0000048 ! multi fate stem cell [Term] id: CL:0000349 name: extraembryonic cell subset: general_cell_types_upper_slim is_a: CL:0000000 ! cell is_a: EFO:0000324 ! cell type [Term] id: CL:0000351 name: trophoblast cell def: "A cell lining the outside of the blastocyst. After binding to the endometrium, trophoblast cells develop into two distinct layers, an inner layer of mononuclear cytotrophoblast cells and an outer layer of continuous multinuclear cytoplasm, the syncytiotrophoblast cells, which form the early fetal-maternal interface." [GOC:tfm, MESH:D014327] synonym: "trophoblastic cell" EXACT [] xref: FMA:83028 is_a: CL:0000349 ! extraembryonic cell relationship: part_of UBERON:0000358 ! blastocyst [Term] id: CL:0000352 name: epiblast cell def: "A cell of the outer layer of a blastula that gives rise to the ectoderm after gastrulation." [GOC:tfm, ISBN:0618947256] is_a: CL:0000723 ! somatic stem cell [Term] id: CL:0000362 name: epidermal cell def: "An epithelial cell of the integument (the outer layer of an organism)." [Flybase:dsj, MA:ma] synonym: "cell of epidermis" EXACT [FMA:62411] synonym: "epithelial cell of skin" NARROW [FMA:62411] xref: BTO:0001470 xref: CALOHA:TS-0283 xref: FMA:62411 xref: MESH:D000078404 is_a: CL:0000066 ! epithelial cell [Term] id: CL:0000365 name: animal zygote def: "Diploid cell produced by the fusion of sperm cell nucleus and egg cell." [ISBN:0471245208] synonym: "zygote" BROAD [] xref: BTO:0000854 xref: EHDAA2:0004546 xref: FMA:72395 xref: MeSH:D015053 xref: NCIt:C12601 xref: ZFS:0000001 is_a: CL:0000007 ! early embryonic cell (metazoa) is_a: EFO:0000399 ! developmental stage [Term] id: CL:0000371 name: protoplast def: "The cell protoplasm after removal of the cell wall." [ISBN:08199377X] xref: MESH:D011523 xref: NCIt:C12659 is_a: CL:0000000 ! cell is_a: EFO:0002958 ! experimental cell relationship: never_in_taxon NCBITaxon:33208 ! Metazoa [Term] id: CL:0000384 name: ligament cell is_a: CL:0000000 ! cell is_a: EFO:0000324 ! cell type relationship: located_in UBERON:0000211 ! ligament [Term] id: CL:0000385 name: prohemocyte (sensu Nematoda and Protostomia) def: "A precursor of mature hemocytes." [doi:10.1016/B978-012369493-5.50008-0] xref: FBbt:00005062 is_a: CL:0000988 ! hematopoietic cell relationship: never_in_taxon NCBITaxon:33511 [Term] id: CL:0000387 name: hemocyte (sensu Arthropoda) def: "A blood cell of the circulatory system of arthropods." [doi:10.1016/B978-012369493-5.50008-0] xref: BTO:0000571 xref: FBbt:00005063 is_a: CL:0000390 ! blood cell (sensu Nematoda and Protostomia) relationship: located_in UBERON:0002390 ! hematopoietic system [Term] id: CL:0000390 name: blood cell (sensu Nematoda and Protostomia) is_a: CL:0000081 ! blood cell relationship: never_in_taxon NCBITaxon:33511 [Term] id: CL:0000392 name: crystal cell def: "A hemocyte that synthesizes and secretes melanins as part of the antimicrobial immune response. It is characterized morphologically by crystal inclusions of phenoloxidases in its cytoplasm, hence its name." [doi:10.1016/B978-012369493-5.50008-0] xref: FBbt:00001690 is_a: CL:0000387 ! hemocyte (sensu Arthropoda) is_a: EFO:0000795 ! animal developmental tissue [Term] id: CL:0000398 name: obsolete polygonal cell comment: Obsoleted as this is actually the same thing as prohemocytes. xref: FBbt:00001691 property_value: IAO:0000233 https://github.com/obophenotype/cell-ontology/issues/1949 xsd:string is_obsolete: true replaced_by: CL:0000385 [Term] id: CL:0000415 name: diploid cell def: "A cell whose nucleus has two haploid genomes." [FB:ma] xref: FMA:72300 is_a: CL:0000000 ! cell is_a: EFO:0000324 ! cell type [Term] id: CL:0000421 name: coelomocyte def: "A free floating cell, including amebocytes and eleocytes, in the coelom of certain animals, especially annelids." [GOC:tfm, ISBN:0721662544] xref: BTO:0002856 xref: WBbt:0005751 is_a: CL:0000080 ! circulating cell [Term] id: CL:0000442 name: follicular dendritic cell def: "A cell with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue. They are unrelated to the dendritic cell associated with T cells. Follicular dendritic cells have Fc receptors and C3b receptors, but unlike other dendritic cells, they do not process or present antigen in a way that allows recognition by T cells. Instead, they hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response." [ISBN:127520252] comment: Due to its unique lineage and distinct function, this is not a type of dendritic cell; CL:0000451. subset: human_reference_atlas xref: BTO:0004267 xref: FMA:83037 xref: ISBN:127520252 xref: MESH:D020566 xref: NCIt:C12622 xref: SNOMEDCT:56685008 is_a: CL:0000000 ! cell is_a: EFO:0000324 ! cell type property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000451 name: dendritic cell def: "A cell of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative)." [GOC:add, ISBN:0781735149] subset: general_cell_types_upper_slim subset: human_reference_atlas synonym: "interdigitating cell" RELATED [] synonym: "veiled cell" RELATED [] xref: BTO:0002042 xref: CALOHA:TS-0194 xref: FMA:83036 xref: MESH:D003713 xref: NCIt:C12583 xref: SNOMEDCT:127942009 xref: SNOMEDCT:24333000 xref: SNOMEDCT:37510001 is_a: CL:0000842 ! mononuclear cell disjoint_from: CL:0000542 ! lymphocyte relationship: located_in UBERON:0002390 ! hematopoietic system property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000453 name: Langerhans cell def: "Langerhans cell is a conventional dendritic cell that has plasma membrane part CD207. A Langerhans cell is a stellate dendritic cell of myeloid origin, that appears clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus." [GO_REF:0000031, GOC:add, GOC:amm, ISBN:0721601464, ISBN:0781735149, PMCID:PMC2346585, PMID:17850486] comment: Originally described in the dendritic cell ontology (DC_CL:0000021 )(PMID:19243617). These cells are also CD1a-high, CD14-negative, CD207-positive (langerin), CD324-positive (E-cadherin), and DCIR-positive. They reside in the epidermis. subset: human_reference_atlas synonym: "LC" EXACT [] xref: BTO:0000705 xref: CALOHA:TS-2375 xref: FMA:63072 xref: MESH:D007801 xref: NCIt:C12584 is_a: CL:0000766 ! myeloid leukocyte is_a: CL:0000990 ! conventional dendritic cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000477 name: follicle cell of egg chamber def: "A somatic epithelial cell of the insect egg chamber." [] synonym: "follicle cell" BROAD [] synonym: "ovarian follicle cell" BROAD [] xref: FBbt:00004904 is_a: CL:0000066 ! epithelial cell relationship: located_in UBERON:0000992 ! ovary relationship: part_of UBERON:0000949 ! endocrine system [Term] id: CL:0000484 name: connective tissue type mast cell def: "Mast cell subtype whose granules contain both the serine proteases tryptase and chymase. These cells are primarily found in connective tissue, such as the peritoneal cavity, skin, and intestinal submucosa. Their development is T-cell independent." [GOC:add, GOC:dsd, GOC:tfm, PMID:19923473, PMID:9354811] comment: They are CD88-positive. The cytoplasmic granules contain high levels of histamine and heparin (mouse) or major neutral proteases, tryptase, chymase, carboxypeptidase A, and cathepsin G (humans). Reportedly, they cannot produce leukotrienes (LTC4) and IL-4. They are reportedly very heterogeneous depending upon location and can convert to the MC(T) phenotype. subset: human_reference_atlas synonym: "MC(TC)" EXACT [] synonym: "MCTC" EXACT [] synonym: "TC mast cells" EXACT [] is_a: CL:0000097 ! mast cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000485 name: mucosal type mast cell def: "Mast cell subtype that contains only the serine protease trypase in its granules. These cells are primarily found in mucosal tissue, such as intestinal mucosa and alveoli. They depend upon T-cells for development of phenotype." [GOC:add, GOC:dsd, PMID:19923473, PMID:9354811] comment: They are CD88-negative. The cytoplasmic granules contain low levels of histamine and high levels of chondroitin sulfate (mouse) or major neutral proteases and tryptase (humans). Additionally, they can produce leukotrienes (LTC4), IL-5, IL-6, and low levels of IL-4. They are reportedly very heterogeneous depending upon location and can convert to the MC(T) phenotype. subset: human_reference_atlas synonym: "MC(T)" EXACT [] synonym: "MCT" EXACT [] synonym: "T mast cells" EXACT [] is_a: CL:0000097 ! mast cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000492 name: CD4-positive helper T cell def: "A CD4-positive, alpha-beta T cell that cooperates with other lymphocytes via direct contact or cytokine release to initiate a variety of immune functions." [GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, ISBN:0781735149, MESH:D006377] subset: human_reference_atlas synonym: "CD4-positive helper T lymphocyte" EXACT [] synonym: "CD4-positive helper T-cell" EXACT [] synonym: "CD4-positive helper T-lymphocyte" EXACT [] synonym: "CD4-positive T-helper cell" EXACT [] xref: CALOHA:TS-1146 xref: FMA:70572 is_a: CL:0000624 ! CD4-positive, alpha-beta T cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000499 name: stromal cell def: "A connective tissue cell of an organ found in the loose connective tissue. These are most often associated with the uterine mucosa and the ovary as well as the hematopoietic system and elsewhere." [GOC:tfm, MESH:D017154] subset: general_cell_types_upper_slim subset: human_reference_atlas xref: BTO:0002064 xref: FMA:83624 xref: NCIt:C12571 is_a: CL:0000000 ! cell is_a: EFO:0000324 ! cell type relationship: located_in UBERON:0002384 ! connective tissue property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000501 name: granulosa cell def: "A supporting cell for the developing female gamete in the ovary of mammals. They develop from the coelomic epithelial cells of the gonadal ridge. Granulosa cells form a single layer around the mammalian oocyte in the primordial ovarian follicle and advance to form a multilayered cumulus oophorus surrounding the ovum in the Graafian follicle. The major functions of granulosa cells include the production of steroids and LH receptors." [MESH:D006107] synonym: "granulosa cell of ovary" EXACT [] xref: BTO:0000542 xref: CALOHA:TS-0729 xref: FMA:18718 xref: NCIt:C12587 xref: TO:0000542 is_a: CL:0000066 ! epithelial cell is_a: CL:0000151 ! secretory cell relationship: located_in UBERON:0000992 ! ovary [Term] id: CL:0000510 name: paneth cell def: "An epithelial cell found in the basal part of the intestinal glands (crypts of Lieberkuhn) including the appendix. Paneth cells synthesize and secrete lysozyme and cryptdins. Numerous in the deeper parts of the intestinal crypts, particularly in the duodenum, rich in zinc, contain large acidophilic granules, with irregular apical microvilli and prominent membrane-bound vacuoles containing matrix." [GOC:tfm, ISBN:0517223651, MESH:D019879, PMID:29184701, PMID:32308658] xref: BTO:0000993 xref: FMA:62897 xref: NCIt:C12593 xref: SNOMEDCT:84907006 is_a: CL:0000151 ! secretory cell is_a: CL:0002563 ! intestinal epithelial cell [Term] id: CL:0000514 name: smooth muscle myoblast def: "A precursor cell destined to differentiate into smooth muscle myocytes." [GOC:tfm, MESH:D032390] synonym: "myoblast, smooth muscle" EXACT [MESH:D032390] synonym: "satellite cell" RELATED [] xref: FMA:84798 xref: NCIt:C33516 is_a: CL:0000056 ! myoblast [Term] id: CL:0000515 name: skeletal muscle myoblast def: "A myoblast that differentiates into skeletal muscle fibers." [SANBI:mhl] synonym: "skeletal myoblast" EXACT [] xref: FMA:84799 is_a: CL:0000056 ! myoblast [Term] id: CL:0000520 name: prokaryotic cell xref: MESH:D011387 is_a: CL:0000000 ! cell is_a: EFO:0000324 ! cell type relationship: never_in_taxon NCBITaxon:2759 ! Eukaryota [Term] id: CL:0000521 name: fungal cell is_a: CL:0000000 ! cell is_a: EFO:0000324 ! cell type [Term] id: CL:0000525 name: syncytiotrophoblast cell def: "A cell from the outer syncytial layer of the trophoblast of an early mammalian embryo, directly associated with the maternal blood supply. It secretes hCG in order to maintain progesterone secretion and sustain a pregnancy." [GOC:tfm, ISBN:0323052908] subset: human_reference_atlas synonym: "plasmidotrophoblast cell" RELATED [] synonym: "syncytial trophoblast cell" EXACT [PMID:11787150] synonym: "syncytiotrophoblastic cell" EXACT [PMID:21733368] synonym: "syntrophoblast cell" RELATED [] xref: FMA:83043 is_a: CL:0000351 ! trophoblast cell property_value: RO:0002175 NCBITaxon:9606 property_value: seeAlso https://github.com/obophenotype/cell-ontology/issues/2100 xsd:string [Term] id: CL:0000540 name: neuron def: "The basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system." [http://en.wikipedia.org/wiki/Neuron, MESH:D009474] comment: These cells are also reportedly CD4-negative and CD200-positive. They are also capable of producing CD40L and IFN-gamma. subset: general_cell_types_upper_slim subset: human_reference_atlas synonym: "nerve cell" EXACT [] xref: BTO:0000938 xref: CALOHA:TS-0683 xref: FBbt:00005106 xref: FMA:54527 xref: NCIt:C12623 xref: NIFSTD:sao1417703748 xref: SNOMEDCT:47220008 xref: VHOG:0001483 xref: WBbt:0003679 is_a: CL:0000211 ! electrically active cell is_a: CL:0002319 ! neural cell property_value: depicted:by https://www.swissbiopics.org/api/image/Neuron_cells.svg xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000542 name: lymphocyte def: "A lymphocyte is a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin." [GOC:add, ISBN:0683073696, ISBN:0781735149] comment: Editors note: consider adding taxon constraint to vertebrata (PMID:18025161) subset: human_reference_atlas xref: BTO:0000775 xref: CALOHA:TS-0583 xref: FMA:62863 xref: MESH:D008214 xref: MeSH:D008214 xref: NCIt:C12535 xref: SNOMEDCT:56972008 xref: VHOG:0001535 is_a: CL:0000842 ! mononuclear cell disjoint_from: CL:0000766 ! myeloid leukocyte relationship: located_in UBERON:0002390 ! hematopoietic system property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000545 name: T-helper 1 cell def: "A CD4-positive, alpha-beta T cell that has the phenotype T-bet-positive, CXCR3-positive, CCR6-negative, and is capable of producing interferon-gamma." [GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, PMID:19375293, PMID:20303875, PMID:22343568] comment: This cell type is compatible with the HIPC Lyoplate markers for 'Th1 CD4+ T cell', but its logical definition includes additional known characteristics of T-helper 1 T cells. subset: human_reference_atlas synonym: "helper T cell type 1" EXACT [] synonym: "T helper cells type 1" EXACT [PMID:9419219] synonym: "T(H)-1 cell" EXACT [] synonym: "Th1 CD4+ T cell" EXACT [PMID:22343568] synonym: "Th1 cell" EXACT [] synonym: "Th1 T cell" EXACT [] synonym: "Th1 T lymphocyte" EXACT [] synonym: "Th1 T-cell" EXACT [] synonym: "Th1 T-lymphocyte" EXACT [] xref: BTO:0001678 xref: FMA:84382 is_a: CL:0000492 ! CD4-positive helper T cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000546 name: T-helper 2 cell def: "A CD4-positive, alpha-beta T cell that has the phenotype GATA-3-positive, CXCR3-negative, CCR6-negative, and is capable of producing interleukin-4." [GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, PMID:19375293, PMID:20103781, PMID:22343568] comment: This cell type is compatible with the HIPC Lyoplate markers for 'non-Th1/Th17 CD4+ T cell' (see CL:0001051), but includes the additional necessary and sufficient conditions to allow classification as a T-helper 2 T cell. subset: human_reference_atlas synonym: "helper T cell type 2" EXACT [] synonym: "T helper cells type 2" EXACT [PMID:9419219] synonym: "T(H)-2 cell" EXACT [] synonym: "Th2 cell" EXACT [] synonym: "Th2 T cell" EXACT [] synonym: "Th2 T lymphocyte" EXACT [] synonym: "Th2 T-cell" EXACT [] synonym: "Th2 T-lymphocyte" EXACT [] xref: BTO:0001679 xref: FMA:84385 xref: MESH:D018418 is_a: CL:0000492 ! CD4-positive helper T cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000547 name: proerythroblast def: "An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers." [ISBN:0721601464, PMID:1638021] subset: blood_and_immune_upper_slim synonym: "pronormoblast" RELATED [] synonym: "rubriblast" EXACT [ISBN:0721601464] xref: FMA:83518 xref: NCIt:C13129 xref: SNOMEDCT:16671004 is_a: CL:0000764 ! erythroid lineage cell relationship: located_in UBERON:0002390 ! hematopoietic system [Term] id: CL:0000549 name: basophilic erythroblast def: "A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared. This cell is CD71-positive and lacks hematopoeitic lineage markers." [GOC:tfm, ISBN:0721601464] synonym: "basophilic normoblast" EXACT [ISBN:0721601464] synonym: "early erythroblast" EXACT [ISBN:0721601464] synonym: "early normoblast" EXACT [ISBN:0721601464] synonym: "prorubricyte" EXACT [ISBN:0721601464] xref: FMA:83505 xref: NCIt:C13130 xref: SNOMEDCT:115610004 xref: SNOMEDCT:464005 is_a: CL:0000765 ! erythroblast [Term] id: CL:0000550 name: polychromatophilic erythroblast def: "A nucleated, immature erythrocyte in which the nucleus occupies a relatively smaller part of the cell than in its precursor, the basophilic erythroblast. The cytoplasm is beginning to acquire hemoglobin and thus is no longer a purely basophilic, but takes on acidophilic aspects, which becomes progressively more marked as the cell matures. The chromatin of the nucleus is arranged in coarse, deeply staining clumps. This cell is CD71-positive and lacks hematopoeitic lineage markers." [ISBN:0721601464] synonym: "intermediate erythroblast" EXACT [ISBN:0721601464] synonym: "intermediate normoblast" EXACT [ISBN:0721601464] synonym: "polychromatic erythroblast" EXACT [ISBN:0721601464] synonym: "polychromatic normoblast" EXACT [ISBN:0721601464] synonym: "polychromatophilic normoblast" EXACT [ISBN:0721601464] synonym: "rubricyte" EXACT [ISBN:0721601464] xref: FMA:83506 xref: NCIt:C13131 xref: SNOMEDCT:16779009 is_a: CL:0000765 ! erythroblast [Term] id: CL:0000552 name: orthochromatic erythroblast def: "The final stage of the nucleated, immature erythrocyte, before nuclear loss. Typically the cytoplasm is described as acidophilic, but it still shows a faint polychromatic tint. The nucleus is small and initially may still have coarse, clumped chromatin, as in its precursor, the polychromatophilic erythroblast, but ultimately it becomes pyknotic, and appears as a deeply staining, blue-black, homogeneous structureless mass. The nucleus is often eccentric and sometimes lobulated." [ISBN:0721601464] synonym: "acidophilic erythroblast" EXACT [ISBN:0721601464] synonym: "eosinophilic erythroblast" EXACT [ISBN:0721601464] synonym: "late erythoblast" EXACT [] synonym: "orthochromatic normoblast" EXACT [ISBN:0721601464] synonym: "pyknotic eto enrythroblast" EXACT [ISBN:0721601464] xref: FMA:84646 is_a: CL:0000765 ! erythroblast [Term] id: CL:0000553 name: megakaryocyte progenitor cell def: "The earliest cytologically identifiable precursor in the thrombocytic series. This cell is capable of endomitosis and lacks expression of hematopoieitic lineage markers (lin-negative)." [GOC:dsd, GOC:tfm, ISBN:0721601464] comment: Lineage negative is described here as CD2-negative, CD3-negative, CD4-negative, CD5-negative, CD8a-negative, CD14-negative, CD19-negative, CD20-negative, CD56-negative, Ly6g-negative, and Ter119-negative. subset: human_reference_atlas synonym: "CFU-Meg" EXACT [PMID:11722431, PMID:12482498] synonym: "colony-forming unit-megakaryocyte" EXACT [] synonym: "Meg-CFC" EXACT [PMCID:PMC1794060] synonym: "megacaryoblast" EXACT [] synonym: "megacaryocyte progenitor cell" EXACT [] synonym: "megakaryoblast" EXACT [] synonym: "megakaryocytic progenitor cell" EXACT [PMID:12482498] synonym: "MkP" EXACT [PMID:21116988] synonym: "promegacaryocyte" RELATED [] synonym: "promegakaryocyte" RELATED [] xref: BTO:0001164 xref: CALOHA:TS-0610 xref: FMA:84235 xref: MESH:D055016 xref: NCIt:C13122 xref: SNOMEDCT:27852005 xref: SNOMEDCT:50284009 is_a: CL:0000763 ! myeloid cell is_a: CL:0000839 ! myeloid lineage restricted progenitor cell relationship: located_in UBERON:0002390 ! hematopoietic system property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000556 name: megakaryocyte def: "A large hematopoietic cell (50 to 100 micron) with a lobated nucleus. Once mature, this cell undergoes multiple rounds of endomitosis and cytoplasmic restructuring to allow platelet formation and release." [http://en.wikipedia.org/wiki/Megakaryocyte, ISBN:0721601464, MESH:D008533, PMID:31043076] comment: Megakaryocytes are reportedly CD181-positive and CD182-positive. subset: blood_and_immune_upper_slim subset: human_reference_atlas synonym: "megacaryocyte" EXACT [] synonym: "megalocaryocyte" EXACT [] synonym: "megalokaryocyte" EXACT [] xref: BTO:0000843 xref: CALOHA:TS-0611 xref: FMA:83555 xref: NCIt:C12553 xref: SNOMEDCT:23592000 is_a: CL:0000763 ! myeloid cell disjoint_from: CL:0000764 ! erythroid lineage cell relationship: located_in UBERON:0002390 ! hematopoietic system property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000557 name: granulocyte monocyte progenitor cell def: "A hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages. These cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1." [GO_REF:0000031, GOC:amm, GOC:dsd, GOC:tfm, http://en.wikipedia.org/wiki/CFU-GM, http://www.copewithcytokines.de, ISBN:0721601464, MESH:D055014, PMCID:PMC2213186, PMCID:PMC548021, PMID:16551251, PMID:16647566] comment: Originally described in the dendritic cell ontology (DC_CL:0000042)(PMID:19243617). GMPs are reportedly CD16-positive, CD32-positive, CD34-positive, CD38-positive, CD45RA-positive, CD110-negative, CD117-positive, CD123-positive, and SCA1-negative. subset: human_reference_atlas synonym: "CFU-C , Colony forming unit in culture" BROAD [http://www.copewithcytokines.de] synonym: "CFU-GM" RELATED abbreviation [ISBN:0721601464, PMCID:PMC2213186, PMCID:PMC548021] synonym: "colony forming unit granulocyte macrophage" EXACT [ISBN:0721601464, PMCID:PMC2213186, PMCID:PMC548021] synonym: "GMP" RELATED abbreviation [ISBN:0721601464, PMCID:PMC2213186, PMCID:PMC548021] synonym: "granulocyte-macrophage progenitor" EXACT [ISBN:0721601464, PMCID:PMC2213186, PMCID:PMC548021] synonym: "granulocyte/monocyte precursor" EXACT [] synonym: "granulocyte/monocyte progenitor" EXACT [] is_a: CL:0000763 ! myeloid cell is_a: CL:0001012 ! CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor is_a: CL:0002092 ! bone marrow cell relationship: located_in UBERON:0002390 ! hematopoietic system property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000558 name: reticulocyte def: "An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds." [GOC:add, GOC:tfm, PMID:15946868, PMID:2037622] subset: blood_and_immune_upper_slim xref: BTO:0001173 xref: CALOHA:TS-0864 xref: MESH:D012156 xref: NCIt:C12528 xref: SNOMEDCT:52802009 is_a: CL:0000764 ! erythroid lineage cell relationship: located_in UBERON:0002390 ! hematopoietic system [Term] id: CL:0000559 name: promonocyte def: "A precursor in the monocytic series, being a cell intermediate in development between the monoblast and monocyte. This cell is CD11b-positive and has fine azurophil granules." [GOC:tfm, ISBN:0721601464] comment: Morphology: Mononuclear cell, diameter 14-18 _M, fine azurophilic granules; markers: CD11b (shared with many other myeloid cells); location: Adult: bone marrow; Fetal: Liver, Yolk Sac; role or process: hematopoiesis, monocyte development; lineage: hematopoietic, myeloid. subset: human_reference_atlas xref: BTO:0004657 xref: FMA:83551 xref: NCIt:C13121 xref: SNOMEDCT:1075005 is_a: CL:0000763 ! myeloid cell is_a: CL:0002194 ! monopoietic cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000560 name: band form neutrophil def: "A late neutrophilic metamyelocyte in which the nucleus is indented to more than half the distance to the farthest nuclear margin but in no area being condensed to a single filament. The nucleus is in the form of a curved or coiled band, not having acquired the typical multilobar shape of the mature neutrophil. These cells are fMLP receptor-positive, CD11b-positive, CD35-negative, and CD49d-negative." [GOC:add, GOC:dsd, GOC:tfm, http://www.cap.org, ISBN:0721601464, PMID:10618520, PMID:12560239, PMID:15514007] comment: Found in the Band 1 fraction. synonym: "band" BROAD [] synonym: "band cell" BROAD [] synonym: "band form" BROAD [] synonym: "rod neutrophil" EXACT [] synonym: "stab cell" BROAD [] is_a: CL:0000096 ! mature neutrophil [Term] id: CL:0000562 name: nucleate erythrocyte def: "An erythrocyte having a nucleus." [GOC:add, GOc:tfm] synonym: "RBC" BROAD [] synonym: "red blood cell" BROAD [] is_a: CL:0000232 ! erythrocyte [Term] id: CL:0000564 name: neutrophilic promyelocyte def: "A promyelocyte committed to the neutrophil lineage. This cell type is GATA-1-positive, C/EBPa-positive, AML-1-positive, MPO-positive, has low expression of PU.1 transcription factor and lacks lactotransferrin expression." [GOC:add, GOC:dsd, GOC:tfm, ISBN:0721601464, PMID:12560239, PMID:15514007] comment: These cells are CD11b-negative, CD15-positive, CD16-negative, CD49d-positive, CD68-positive, CD35-negative, and fMLP receptor-negative. They are found in the Band 3 fraction. synonym: "neutrophilic premyelocyte" EXACT [] synonym: "neutrophilic progranulocyte" EXACT [] xref: FMA:84196 xref: SNOMEDCT:34254002 is_a: CL:0000834 ! neutrophil progenitor cell is_a: CL:0000836 ! promyelocyte [Term] id: CL:0000576 name: monocyte def: "Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." [GO_REF:0000031, MESH:D009000] comment: Morphology: Mononuclear cell, diameter, 14 to 20 _M, N/C ratio 2:1-1:1. Nucleus may appear in variety of shapes: round, kidney, lobulated, or convoluted. Fine azurophilic granules present; markers: CD11b (shared with other myeloid cells), human: CD14, mouse: F4/80-mid,GR1-low; location: Blood, but can be recruited into tissues; role or process: immune & tissue remodelling; lineage: hematopoietic, myeloid. subset: blood_and_immune_upper_slim subset: general_cell_types_upper_slim subset: human_reference_atlas xref: BTO:0000876 xref: CALOHA:TS-0638 xref: FMA:62864 xref: MeSH:D009000 xref: NCIt:C12547 xref: SNOMEDCT:55918008 is_a: CL:0000766 ! myeloid leukocyte is_a: CL:0000842 ! mononuclear cell relationship: located_in UBERON:0002390 ! hematopoietic system property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000579 name: border follicle cell def: "A follicle cell that migrates from the anterior pole of the insect egg chamber to the anterior of the oocyte where they participate in the formation of the micropyle." [FBbt:00004905] xref: FBbt:00004905 is_a: CL:0000477 ! follicle cell of egg chamber [Term] id: CL:0000580 name: neutrophilic myelocyte def: "A neutrophil precursor in the granulocytic series, being a cell intermediate in development between a promyelocyte and a metamyelocyte; in this stage, production of primary granules is complete and neutrophil-specific granules has started. No nucleolus is present. This cell type is CD13-positive, CD16-negative, integrin alpha-M-positive, CD15-positive, CD33-positive, CD24-positive, C/EBP-a-positive, C/EBPe-positive, PU.1-positive, lactotransferrin-positive, myeloperoxidase-positive and NGAL-positive." [GOC:add, GOC:dsd, GOC:tfm, http://www.cap.org, ISBN:0721601464, PMID:10618520, PMID:12560239, PMID:15514007] comment: These cells are also CD15-positive, CD35-negative, CD49d-positive, and fMLP receptor-negative. They are found in the Band 2 fraction. xref: BTO:0003455 xref: FMA:83540 xref: SNOMEDCT:4717004 is_a: CL:0000776 ! immature neutrophil is_a: CL:0002087 ! nongranular leukocyte is_a: CL:0002193 ! myelocyte [Term] id: CL:0000581 name: peritoneal macrophage def: "A macrophage resident in the peritoneum under non-inflammatory conditions. Markers include F4/80-high, CD11b-high, CD68-positive, SIGNR1-positive, CD115-high, MHC-II-negative, and Dectin-1-positive." [MESH:D017737, PMID:15771589, PMID:19201820] comment: Markers: Mouse: F4/80-high, CD11b-high, CD68+, SIGNR1+, Dectin-1+. xref: BTO:0001034 xref: FMA:83025 xref: NCIt:C12566 is_a: CL:0000864 ! tissue-resident macrophage [Term] id: CL:0000582 name: neutrophilic metamyelocyte def: "A neutrophil precursor in the granulocytic series, being a cell intermediate in development between a myelocyte and the band form neutrophil. The protein synthesis seen in earlier stages decreases or stops; the nucleus becomes indented where the indentation is smaller than half the distance to the farthest nuclear margin; chromatin becomes coarse and clumped; specific granules predominate while primary granules are rare; and the cytoplasm becomes amphophilic like that of a mature granulocyte. This cell type is integrin alpha-M-positive, CD13-negative, CD15-positive, CD16-positive, CD33-positive, CD24-positive, fMLP receptor-negative and has expression of C/EBP-a, C/EBP-e, PU.1 transcription factor, lactotransferrin, myeloperoxidase and neutrophil gelatinase associated lipocalin." [GOC:add, GOC:dsd, GOC:tfm, http://www.cap.org, ISBN:0721601464, PMID:10618520, PMID:12560239, PMID:15514007] comment: These cells are also CD35-negative, CD49d-positive, and fMLP receptor-negative. They are found in the Band 2 fraction. synonym: "juvenile neutrophil" EXACT [] xref: FMA:84197 xref: SNOMEDCT:50134008 is_a: CL:0000776 ! immature neutrophil is_a: CL:0002192 ! metamyelocyte [Term] id: CL:0000583 name: alveolar macrophage def: "A tissue-resident macrophage found in the alveoli of the lungs. Ingests small inhaled particles resulting in degradation and presentation of the antigen to immunocompetent cells. Markers include F4/80-positive, CD11b-/low, CD11c-positive, CD68-positive, sialoadhesin-positive, dectin-1-positive, MR-positive, CX3CR1-negative." [GO_REF:0000031, GOC:ana, GOC:dsd, GOC:tfm, MESH:D016676] comment: Markers: Mouse: F4/80mid, CD11b-/low, CD11c+, CD68+, sialoadhesin+, dectin-1+, MR+, CX3CR1-. subset: human_reference_atlas synonym: "dust cell" EXACT [] synonym: "MF.Lu" RELATED [] xref: BTO:0000802 xref: CALOHA:TS-0030 xref: FMA:83023 xref: NCIt:C12565 xref: SNOMEDCT:33956004 is_a: CL:0000864 ! tissue-resident macrophage property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000584 name: enterocyte def: "An epithelial cell that has its apical plasma membrane folded into microvilli to provide ample surface for the absorption of nutrients from the intestinal lumen." [SANBI:mhl] subset: human_reference_atlas synonym: "differentiated enterocyte" NARROW [https://orcid.org/0000-0001-9610-7627, PMID:33290721] synonym: "mature enterocyte" NARROW [https://orcid.org/0000-0001-9610-7627, PMID:33290721] xref: BTO:0000398 xref: FMA:62122 xref: MESH:D020895 is_a: CL:0002563 ! intestinal epithelial cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000586 name: germ cell def: "The reproductive cell in multicellular organisms." [MESH:D005854] xref: BTO:0000535 xref: NCIT:C12597 xref: NCIt:C12597 xref: VHOG:0001534 xref: WBbt:0006796 is_a: CL:0000000 ! cell is_a: EFO:0002955 ! reproductive system cell [Term] id: CL:0000588 name: odontoclast def: "A specialized osteoclast associated with the absorption and removal of cementum." [GOC:add] xref: BTO:0002516 xref: FMA:83027 is_a: CL:0000092 ! osteoclast [Term] id: CL:0000595 name: enucleate erythrocyte def: "An erythrocyte lacking a nucleus." [GOC:add, GOC:tfm] synonym: "RBC" RELATED abbreviation [] synonym: "red blood cell" BROAD [] is_a: CL:0000232 ! erythrocyte [Term] id: CL:0000598 name: pyramidal neuron def: "Pyramidal neurons have a pyramid-shaped soma with a single axon, a large apical dendrite and multiple basal dendrites. The apex and an apical dendrite typically point toward the pial surface and other dendrites and an axon emerging from the base. The axons may have local collaterals but also project outside their region. Pyramidal neurons are found in the cerebral cortex, the hippocampus, and the amygdala." [GOC:tfm, MESH:D017966] subset: BDS_subset synonym: "projection neuron" EXACT [] synonym: "pyramidal cell" EXACT [] xref: BTO:0003102 xref: FMA:67310 xref: FMA:86775 xref: GOC:tfm xref: NCIt:C12652 xref: NIF_Cell:sao862606388 xref: NIFSTD:sao862606388 xref: SNOMEDCT:17522008 is_a: CL:0000540 ! neuron relationship: located_in UBERON:0001017 ! central nervous system [Term] id: CL:0000599 name: conidium def: "An asexual, nonmotile spore formed by higher fungi; conidia are usually made from the side or tip of specialized sporogenous cells and do not form by progressive cleavage of the cytoplasm." [ISBN:08199377X, PMID:2524423, PMID:9529886, SGD:clt] xref: BTO:0000283 xref: FAO:0000024 xref: SNOMEDCT:14127004 is_a: CL:0000521 ! fungal cell [Term] id: CL:0000611 name: eosinophil progenitor cell comment: These cells are CD34-positive, CD45RA-negative, CD71-negative, and lineage-negative (CD2, CD3 epsilon, CD4, CD5, CD8a, CD14, CD19, CD20, integrin alpha-M, NCAM-1, SCA-1, Ly6G, Ly76). synonym: "CFU-Eo" RELATED abbreviation [] synonym: "colony forming unit eosinophil" RELATED [] synonym: "EoP" RELATED abbreviation [PMCID:PMC2212039, PMCID:PMC2626675] synonym: "eosinophil stem cell" RELATED [] is_a: CL:0000763 ! myeloid cell is_a: CL:0002191 ! granulocytopoietic cell [Term] id: CL:0000612 name: eosinophilic myelocyte def: "A eosinophil precursor in the granulocytic series, being a cell intermediate in development between a promyelocyte and a metamyelocyte;in this stage, production of primary granules is complete and eosinophil-specific granules has started. No nucleolus is present. These cells are integrin alpha-M-positive, CD13-positive, CD15-positive, CD16-negative, CD24-positive, and CD33-positive." [GOC:add, GOC:dsd, http://www.cap.org, ISBN:0721601464, PMID:19622087] xref: BTO:0003454 xref: FMA:83542 xref: SNOMEDCT:90961003 is_a: CL:0000772 ! immature eosinophil is_a: CL:0002087 ! nongranular leukocyte is_a: CL:0002193 ! myelocyte [Term] id: CL:0000613 name: basophil progenitor cell def: "A progenitor cell committed to the basophil lineage. This cell lacks hematopoietic lineage markers (lin-negative) and is CD34-positive, T1/ST2-low, CD117-negative, and FceRIa-high. This cell also expresses Gata-1, Gata-2 and C/EBPa." [GOC:add, GOC:dsd, http://www.copewithcytokines.de, PMCID:PMC1312421] comment: BaP are also CD13-low and integrin beta-7-low. They are lin-negative (CD2, CD3e, CD4, CD5, CD8, CD11b, CD14, CD19, CD20, ly6g, ly76, and NCAM-1). They also lack expression of mast cell protease 1 (MCP-1) and microphthalmia-associated transcription factor (mitf). synonym: "BaP" EXACT [] synonym: "basophilic stem cell" RELATED [] synonym: "CFU-Bas" RELATED [] synonym: "colony forming unit basophil" RELATED [] is_a: CL:0000763 ! myeloid cell is_a: CL:0002191 ! granulocytopoietic cell [Term] id: CL:0000614 name: basophilic myelocyte def: "A basophil precursor in the granulocytic series, being a cell intermediate in development between a promyelocyte and a metamyelocyte; in this stage, production of primary granules is complete and basophil-specific granules has started. No nucleolus is present. Markers are being integrin alpha-M-positive, fucosyltransferase FUT4-positive, CD33-positive, CD24-positive, aminopeptidase N-positive." [GOC:add, GOC:tfm, http://www.cap.org, ISBN:0721601464, PMID:18466030] xref: BTO:0003456 xref: FMA:83543 xref: SNOMEDCT:17295002 is_a: CL:0000768 ! immature basophil is_a: CL:0002087 ! nongranular leukocyte [Term] id: CL:0000617 name: GABAergic neuron def: "A neuron that uses GABA as a vesicular neurotransmitter" [GOC:tfm] synonym: "GABA-ergic neuron" EXACT [] xref: FBbt:00007228 xref: FMA:84788 xref: MESH:D059330 xref: WBbt:0005190 is_a: CL:0000151 ! secretory cell is_a: CL:0000540 ! neuron [Term] id: CL:0000622 name: acinar cell def: "A secretory cell that is grouped together with other cells of the same type to form grape shaped clusters known as acini (singular acinus)." [GOC:tfm, http://www.copewithcytokines.de] synonym: "acinic cell" EXACT [] synonym: "acinous cell" EXACT [] xref: FMA:83625 xref: MESH:D061354 xref: NCIt:C13077 is_a: CL:0000066 ! epithelial cell is_a: CL:0000151 ! secretory cell [Term] id: CL:0000623 name: natural killer cell def: "A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." [GOC:add, ISBN:0781735149, PMID:15771571] subset: general_cell_types_upper_slim subset: human_reference_atlas synonym: "large granular lymphocyte" BROAD [] synonym: "NK cell" EXACT [] synonym: "null cell" BROAD [] xref: BTO:0000914 xref: BTO:0004716 xref: CALOHA:TS-0664 xref: FMA:63147 xref: FMA:83601 xref: MESH:D007694 xref: NCIt:C12536 xref: SNOMEDCT:250285008 xref: VHOG:0001697 is_a: CL:0001067 ! group 1 innate lymphoid cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000624 name: CD4-positive, alpha-beta T cell def: "A mature alpha-beta T cell that expresses an alpha-beta T cell receptor and the CD4 coreceptor." [GOC:add, ISBN:0781735149] subset: human_reference_atlas synonym: "CD4-positive, alpha-beta T lymphocyte" EXACT [] synonym: "CD4-positive, alpha-beta T-cell" EXACT [] synonym: "CD4-positive, alpha-beta T-lymphocyte" EXACT [] is_a: CL:0000791 ! mature alpha-beta T cell disjoint_from: CL:0000625 ! CD8-positive, alpha-beta T cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000625 name: CD8-positive, alpha-beta T cell def: "A T cell expressing an alpha-beta T cell receptor and the CD8 coreceptor." [GOC:add, GOC:tfm, ISBN:0781735149] subset: human_reference_atlas synonym: "CD8-positive, alpha-beta T lymphocyte" EXACT [] synonym: "CD8-positive, alpha-beta T-cell" EXACT [] synonym: "CD8-positive, alpha-beta T-lymphocyte" EXACT [] is_a: CL:0000791 ! mature alpha-beta T cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000628 name: photosynthetic cell def: "A cell that can perform photosynthesis, in which carbohydrates are synthesized from carbon dioxide and water, using light as the energy source." [TAIR:sr] comment: see PMID:21177950, The making of a photosynthetic animal. is_a: CL:0000000 ! cell is_a: EFO:0000324 ! cell type [Term] id: CL:0000632 name: hepatic stellate cell def: "A cell that is found in the perisinusoidal space of the liver that is capable of multiple roles including storage of retinol, presentation of antigen to T cells (including CD1d-restricted NKT cells), and upon activation, production of extracellular matrix components that can contribute to liver fibrosis. This activated state has a myofibroblast-like phenotype, though it's not clear in the literature if this is terminally differentiated. This cell type comprises approximately 8-15% of total cells in the liver." [GOC:dsd, http://en.wikipedia.org/wiki/Hepatic_stellate_cell, MESH:D055166, PMID:12808230, PMID:17239632, PMID:18222966, PMID:9302568] comment: Hepatic stellate cells are CD271-positive, desmin-positive, DDR-2-positive, GFAP-positive, synamin-positive, synaptophysin-positive, vimentin-positive, They are capable of producing angiotensin II, fibronectin, laminin, MMP-1, MMP-2, MMP-3, MMP-9, MMP-11, TGF-beta1, TIMP-1, TIMP-2, type I collagen, type III collagen, type IV collagen, and type VI collagen. subset: human_reference_atlas synonym: "fat-storing cell" RELATED [] synonym: "hepatic perisinusoidal cell" EXACT [] synonym: "Ito cell" EXACT [] synonym: "lipocyte" RELATED [] synonym: "perisinusoidal cell" EXACT [] synonym: "vitamin A-storing cells" RELATED [PMID:12808230] xref: BTO:0002741 xref: CALOHA:TS-0452 xref: FMA:67763 xref: NCIt:C32734 is_a: CL:0000057 ! fibroblast is_a: CL:0000499 ! stromal cell relationship: part_of UBERON:0004647 ! liver lobule property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000644 name: Bergmann glial cell def: "Type of radial astrocyte in the cerebellar cortex that have their cell bodies in the Purkinje cell layer and processes that extend into the molecular layer, terminating with bulbous endfeet at the pial surface. Bergmann glia express high densities of glutamate transporters that limit diffusion of the neurotransmitter glutamate during its release from synaptic terminals. Besides their role in early development of the cerebellum, Bergmann glia are also required for the pruning or addition of synapses." [GOC:tfm, http://www.neurolex.org/wiki/Category\:Bergmann_Glial_Cell] subset: human_reference_atlas synonym: "Bergmann astrocyte" EXACT [] synonym: "Bergmann glial cell of cerebellum" EXACT [] xref: FMA:54559 is_a: CL:0000127 ! astrocyte property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000646 name: basal cell def: "Undifferentiated; mitotic stem cell for other epithelial cell types; rounded or elliptical with little cytoplasm and few organelles; contain cytokeratin intermediate filament." [GOC:tfm, ISBN:0517223651] subset: human_reference_atlas xref: BTO:0000939 xref: FMA:62516 xref: NCIt:C12475 is_a: CL:0000723 ! somatic stem cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000647 name: multinucleated giant cell def: "A phagocytic cell formed by the fusion of macrophages, occurs in chronic inflammatory responses to persistent microorganism such as M.tuberculosis, component of granulomas. Sometimes used to refer to megakaryocytes." [GOC:add, GOC:tfm, ISBN:0702022918, ISBN:0702024783] comment: Role or process: Chronic infection, granulomatous inflammation. Consider also megakaryocyte (CL:0000556) as sometimes multinucleated giant cell is used to refer to this. subset: blood_and_immune_upper_slim synonym: "foreign body giant cell" EXACT [ISBN:0702022918, ISBN:0702024783] synonym: "Langerhans giant cell" EXACT [ISBN:0702022918, ISBN:0702024783] synonym: "macrophage polykaryon" EXACT [ISBN:0702022918, ISBN:0702024783] synonym: "multinucleate giant cell" EXACT [ISBN:0702022918, ISBN:0702024783] synonym: "syncytial giant cell" EXACT [ISBN:0702022918, ISBN:0702024783] xref: BTO:0003107 xref: FMA:83035 xref: MESH:D015726 is_a: CL:0000766 ! myeloid leukocyte [Term] id: CL:0000650 name: mesangial cell def: "A cell type that encapsulates the capillaries and venules in the kidney. This cell secretes mesangial matrix that provides the structural support for the capillaries." [GOC:tfm, http://www.copewithcytokines.de/cope.cgi?key=mesangial%20cells] comment: Do all of these cells really develop from some mesenchymal stem cell? synonym: "kidney mesangial cell" EXACT [] xref: BTO:0000853 xref: CALOHA:TS-0617 xref: FMA:70972 xref: MESH:D050527 is_a: CL:0000669 ! pericyte relationship: part_of UBERON:0000074 ! renal glomerulus [Term] id: CL:0000653 name: podocyte def: "A specialized kidney epithelial cell, contained within a glomerulus, that contains \"feet\" that interdigitate with the \"feet\" of other podocytes." [GOC:tfm, https://doi.org/10.1101/2021.10.10.463829] subset: human_reference_atlas synonym: "epithelial cell of visceral layer of glomerular capsule" BROAD [FMA:70967] synonym: "glomerular podocyte" EXACT [FMA:70967] synonym: "glomerular visceral epithelial cell" EXACT [] synonym: "kidney podocyte" EXACT [] synonym: "renal podocyte" EXACT [] xref: BTO:0002295 xref: FMA:70967 is_a: CL:0000066 ! epithelial cell is_a: CL:0000151 ! secretory cell is_a: CL:1000497 ! kidney cell relationship: part_of UBERON:0000074 ! renal glomerulus property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-1773-2692 property_value: RO:0002175 NCBITaxon:9606 property_value: seeAlso https://github.com/obophenotype/cell-ontology/issues/1460 xsd:string [Term] id: CL:0000669 name: pericyte def: "An elongated, contractile cell found wrapped about precapillary arterioles outside the basement membrane. Pericytes are present in capillaries where proper adventitia and muscle layer are missing (thus distingushing this cell type from adventitial cells). They are relatively undifferentiated and may become fibroblasts, macrophages, or smooth muscle cells." [GOC:dsd, GOC:tfm, ISBN:0721662544, MESH:D020286, PMID:16807374, PMID:17986482, PMID:20024907] comment: Pericytes are CD10-positive, CD13-positive, CD31-negative, CD45-negative, CD106-positive, CD117-negative, CD140-positive, CD144-negative, CD146-positive, CD271-positive, CD325-positive, NG2-positive, RGS5-positive, SMA-positive, and desmin-positive. A subpopulation is CD248-positive. They are also capable of producing angiopoietin 1, CXCL12, TGF-beta, and VEGF-A. subset: human_reference_atlas synonym: "adventitial cell" RELATED [] synonym: "adventitial reticular cell" EXACT [] synonym: "ARC" EXACT [PMID:17986482] synonym: "cell of Rouget" EXACT [] synonym: "pericyte cell" EXACT [] synonym: "pericyte of Rouget" EXACT [] xref: BTO:0002441 xref: FMA:63174 xref: NCIt:C12656 xref: NIFSTD:nifext_171 xref: SNOMEDCT:34773004 is_a: CL:0000988 ! hematopoietic cell relationship: located_in UBERON:0002390 ! hematopoietic system property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000670 name: primordial germ cell def: "A primordial germ cell is a diploid germ cell precursors that transiently exist in the embryo before they enter into close association with the somatic cells of the gonad and become irreversibly committed as germ cells." [GOC:tfm, PMID:1381289] synonym: "gonocyte" EXACT [] synonym: "primitive germ cell" EXACT [] xref: FMA:70567 xref: NCIt:C33401 is_a: CL:0000000 ! cell [Term] id: CL:0000679 name: glutamatergic neuron def: "A neuron that is capable of some neurotansmission by glutamate secretion." [] subset: human_reference_atlas xref: FBbt:00100291 xref: WBbt:0006829 is_a: CL:0000151 ! secretory cell is_a: CL:0000540 ! neuron relationship: located_in UBERON:0001017 ! central nervous system property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000700 name: dopaminergic neuron def: "A neuron that releases dopamine as a neurotransmitter." [GOC:dhill] synonym: "dopaminergic cell" EXACT [] xref: BTO:0004032 xref: FBbt:00005131 xref: FMA:84787 xref: MESH:D059290 xref: NCIt:C26454 xref: WBbt:0006746 is_a: CL:0000151 ! secretory cell is_a: CL:0000540 ! neuron [Term] id: CL:0000711 name: cumulus cell def: "Cumulus cell is a specialized granulosa cell that surrounds and nourishes the oocyte. This cell-type surrounds the fully-grown oocyte to form a cumulus-oocyte complex (abbr. COC). The terms cumulus oophorus cells, cumulus granulosa cells, cumulus oophorous granulosa cells, granulosa-cumulus cells are used to make a distinction between this cell and the other functionally different subpopulation of granulosa cells at the wall of the Graafian follicle." [GOC:tfm, http://www.copewithcytokines.org/cope.cgi?key=cumulus%20cells] subset: human_reference_atlas xref: BTO:0002236 xref: MESH:D054885 is_a: CL:0000066 ! epithelial cell is_a: CL:0000151 ! secretory cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000723 name: somatic stem cell def: "A stem cell that can give rise to cell types of the body other than those of the germ-line." [GO:0048103] xref: CALOHA:TS-2086 xref: FMA:63368 xref: MESH:D053687 xref: SNOMEDCT:417904004 is_a: CL:0000034 ! stem cell intersection_of: CL:0000034 ! stem cell intersection_of: capable_of GO:0048103 ! somatic stem cell division relationship: capable_of GO:0048103 ! somatic stem cell division [Term] id: CL:0000738 name: leukocyte def: "An achromatic cell of the myeloid or lymphoid lineages capable of ameboid movement, found in blood or other tissue." [GOC:add, GOC:tfm, ISBN:978-0-323-05290-0] subset: human_reference_atlas synonym: "immune cell" RELATED [] synonym: "leucocyte" EXACT [] synonym: "white blood cell" EXACT [] xref: BTO:0000751 xref: CALOHA:TS-0549 xref: FMA:62852 xref: MESH:D007962 xref: NCIT:C12529 xref: NCIt:C12529 xref: SNOMEDCT:52501007 is_a: CL:0000988 ! hematopoietic cell relationship: located_in UBERON:0002390 ! hematopoietic system property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000746 name: cardiac muscle cell alt_id: FMA:83808 def: "Cardiac muscle cells are striated muscle cells that are responsible for heart contraction. In mammals, the contractile fiber resembles those of skeletal muscle but are only one third as large in diameter, are richer in sarcoplasm, and contain centrally located instead of peripheral nuclei." [GOC:mtg_cardiacconduct_nov11, GOC:tfm, ISBN:0323052908, PMID:22426062, PMID:4711263] comment: This class encompasses the muscle cells responsible for heart* contraction in both vertebrates and arthropods. The ultrastucture of a wide range of arthropod heart cells has been examined including spiders, horseshoe crabs, crustaceans (see Sherman, 1973 and refs therein) and insects (see Lehmacher et al (2012) and refs therein). According to these refs, the cells participating in heart contraction in all cases are transversely striated. Insects hearts additionally contain ostial cells, also transversely striated muscle cells, but which do not participate in heart contraction. subset: general_cell_types_upper_slim subset: human_reference_atlas synonym: "cardiac muscle fiber" EXACT [GO:0048739] synonym: "cardiac myocyte" EXACT [] synonym: "cardiocyte" BROAD [] synonym: "cardiomyocyte" EXACT [] synonym: "heart muscle cell" EXACT [] xref: BTO:0001539 xref: CALOHA:TS-0115 xref: FMA:14067 xref: MESH:D032383 xref: NCIt:C13002 xref: NIFSTD:sao658938043 xref: SNOMEDCT:86441007 is_a: CL:0000187 ! muscle cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000762 name: nucleated thrombocyte def: "A nucleated blood cell involved in coagulation, typically seen in birds and other non-mammalian vertebrates." [GOC:add, GOC:tfm, PMID:16360205] comment: Note that this is a non-mammalian cell type. Use platelet ; CL:0000233 for thrombocytes (platelets) in mammals. subset: blood_and_immune_upper_slim is_a: CL:0000763 ! myeloid cell [Term] id: CL:0000763 name: myeloid cell def: "A cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage." [GOC:add] xref: BTO:0001441 xref: CALOHA:TS-0647 xref: MESH:D022423 xref: NCIt:C12549 is_a: CL:0000988 ! hematopoietic cell relationship: located_in UBERON:0002390 ! hematopoietic system [Term] id: CL:0000764 name: erythroid lineage cell def: "A immature or mature cell in the lineage leading to and including erythrocytes." [GOC:add, GOC:tfm] comment: Note that in FMA erythropoietic cells are types of nucleated erythrocytes and thus don't include erythrocytes. subset: human_reference_atlas synonym: "erythropoietic cell" EXACT [] xref: CALOHA:TS-0290 xref: FMA:62845 xref: FMA:83516 is_a: CL:0000763 ! myeloid cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000765 name: erythroblast def: "A nucleated precursor of an erythrocyte that lacks hematopoietic lineage markers." [GOC:add, ISBN:0721601464, PMID:18174176] subset: blood_and_immune_upper_slim synonym: "normoblast" EXACT [] xref: BTO:0001571 xref: CALOHA:TS-0289 xref: FMA:83504 xref: MESH:D004900 xref: NCIt:C12527 xref: SNOMEDCT:84227004 is_a: CL:0000764 ! erythroid lineage cell relationship: located_in UBERON:0002390 ! hematopoietic system [Term] id: CL:0000766 name: myeloid leukocyte def: "A cell of the monocyte, granulocyte, or mast cell lineage." [GOC:add] subset: human_reference_atlas is_a: CL:0000738 ! leukocyte is_a: CL:0000763 ! myeloid cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000767 name: basophil def: "Any of the immature or mature forms of a granular leukocyte that in its mature form has an irregularly shaped, pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm that contains coarse, bluish-black granules of variable size. Basophils contain vasoactive amines such as histamine and serotonin, which are released on appropriate stimulation. A basophil is CD123-positive, CD193-positive, CD203c-positive, and FceRIa-positive." [GOC:add, GOC:amm, GOC:dsd, GOC:tfm, ISBN:0721601464, MESH:D001491, PMCID:PMC2626675, PMID:11927641, PMID:19741522, PMID:21236338, PMID:9933081] comment: Matures in the bone marrow and account for <1% of leukocytes in the peripheral blood, spleen, and bone marrow. Basophils are described as being CD11a-positive, CD11b-positive, CD13-positive, CD15-positive, CD18-positive, CD21-positive, CD25-positive, CD29-positive, CD35-positive, CD40-positive, CD40L-positive, CD44-positive, CD45R-negative, CD46-positive, CD49a-positive, CD49b-positive, CD49d-positive, CD55-positive, CD59-positive, CD62L-positive, CD63-positive, CD69-positive, CD90-negative, CD116-positive, CD117-negative, CD124-positive, CD125-positive, CD131-positive, CD161-positive, CD184-positive, CD191-positive, CD192-positive, CD197-positive, CD200R3-positive, CD218-positive, CD282-positive, CD284-positive, CD289-positive, CD290-positive, CD294-positive, natural killer cell receptor 2B4-positive, smad1-positive, CD3-negative, CD4-negative, CD7-negative, CD8-negative, CD14-negative, CD15-negative, CD16-negative, CD19-negative, CD20-negative, CD34-negative, CD36-negative, CD45R-negative, CD56-negative, CD57-negative, CD235a-negative, and GR1-negative. Transcription factors- GATA1-positive, PU.1-positive. subset: blood_and_immune_upper_slim subset: human_reference_atlas synonym: "basophilic leucocyte" EXACT [] synonym: "basophilic leukocyte" EXACT [] synonym: "polymorphonuclear leucocyte" BROAD [] synonym: "polymorphonuclear leukocyte" BROAD [] xref: BTO:0000129 xref: CALOHA:TS-0073 xref: FMA:62862 xref: MeSH:D001491 xref: NCIt:C12531 xref: SNOMEDCT:30061004 is_a: CL:0000094 ! granulocyte property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000768 name: immature basophil def: "Any of the immature forms of a basophil, in which basophilic specific granules are present but other phenotypic features of the mature form may be lacking." [GOC:add, ISBN:0721601464] synonym: "immature basophilic leucocyte" EXACT [] synonym: "immature basophilic leukocyte" EXACT [] is_a: CL:0000767 ! basophil [Term] id: CL:0000769 name: basophilic metamyelocyte def: "A basophil precursor in the granulocytic series, being a cell intermediate in development between a basophilic myelocyte and a band form basophil. The nucleus becomes indented where the indentation is smaller than half the distance to the farthest nuclear margin; chromatin becomes coarse and clumped; specific granules predominate while primary granules are rare. Markers are CD11b-positive, CD15-positive, CD16-positive, CD24-positive, CD33-positive, and CD13-positive." [GOC:tfm, ISBN:0721601464, PMID:18466030] xref: FMA:84198 xref: SNOMEDCT:63369000 is_a: CL:0000768 ! immature basophil is_a: CL:0002192 ! metamyelocyte [Term] id: CL:0000770 name: band form basophil def: "A late basophilic metamyelocyte in which the nucleus is in the form of a curved or coiled band, not having acquired the typical multilobar shape of the mature basophil." [GOC:add, http://www.cap.org, ISBN:0721601464, PMID:18466030] is_a: CL:0000768 ! immature basophil [Term] id: CL:0000771 name: eosinophil def: "Any of the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin. Eosinophils are CD9-positive, CD191-positive, and CD193-positive." [GOC:add, GOC:amm, GOC:dsd, GOC:tfm, ISBN:0721601464, PMCID:PMC2626675, PMID:10914487, PMID:1662676] comment: Eosinophils are also CD14-negative, CD32-positive, CD44-positive, CD48-positive, CD69-positive, CD192-negative, MBP1-positive, MBP2-positive, TLR2-negative, TLR4-negative, and lineage-negative (B220, CD2, CD14, CD19, CD56, CD71, CD117, CD123, CD235a (glycophorin A), and TER119). The cytokines IL-3, IL-5, and GM-CSF are involved in their development and differentiation. Usually considered CD16-negative, CD16 is observed on eosinophilic metamyelocyte. subset: blood_and_immune_upper_slim subset: human_reference_atlas synonym: "eosinocyte" EXACT [] synonym: "eosinophilic granulocyte" EXACT [] synonym: "eosinophilic leucocyte" EXACT [] synonym: "eosinophilic leukocyte" EXACT [] synonym: "polymorphonuclear leucocyte" BROAD [] synonym: "polymorphonuclear leukocyte" BROAD [] xref: BTO:0000399 xref: CALOHA:TS-0279 xref: FMA:62861 xref: MESH:D004804 xref: MeSH:D004804 xref: NCIt:C12532 xref: SNOMEDCT:14793004 is_a: CL:0000094 ! granulocyte property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000772 name: immature eosinophil def: "Any of the immature forms of an eosinophil, in which eosinophilic specific granules are present but other phenotypic features of the mature form may be lacking." [GOC:add, ISBN:0721601464] synonym: "immature eosinocyte" EXACT [] synonym: "immature eosinophilic leucocyte" EXACT [] synonym: "immature eosinophilic leukocyte" EXACT [] is_a: CL:0000771 ! eosinophil [Term] id: CL:0000773 name: eosinophilic metamyelocyte def: "A eosinophil precursor in the granulocytic series, being a cell intermediate in development between a eosinophilic myelocyte and a band form eosinophil. The nucleus becomes indented where the indentation is smaller than half the distance to the farthest nuclear margin; chromatin becomes coarse and clumped; specific granules predominate while primary granules are rare. Markers are integrin alpha-M-positive, fucosyltransferase FUT4-positive, low affinity immunoglobulin gamma Fc region receptor III-positive, CD33-positive, CD24-positive and aminopeptidase N-negative." [GOC:add, GOC:tfm, ISBN:0721601464, PMID:19622087] xref: SNOMEDCT:80036001 is_a: CL:0000772 ! immature eosinophil is_a: CL:0002192 ! metamyelocyte [Term] id: CL:0000774 name: band form eosinophil def: "A late eosinophilic metamyelocyte in which the nucleus is in the form of a curved or coiled band, not having acquired the typical multilobar shape of the mature eosinophil." [GOC:add, GOC:tfm, http://www.cap.org, ISBN:0721601464, PMID:19622087] is_a: CL:0000772 ! immature eosinophil [Term] id: CL:0000775 name: neutrophil def: "Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes." [GOC:add, GOC:amm, GOC:tfm, ISBN:0721601464] subset: blood_and_immune_upper_slim subset: human_reference_atlas synonym: "neutrocyte" EXACT [] synonym: "neutrophil leucocyte" EXACT [] synonym: "neutrophil leukocyte" EXACT [] synonym: "neutrophilic leucocyte" EXACT [] synonym: "neutrophilic leukocyte" EXACT [] synonym: "PMN" BROAD [] synonym: "poly" BROAD [] synonym: "polymorphonuclear leucocyte" BROAD [] synonym: "polymorphonuclear leukocyte" BROAD [] synonym: "polymorphonuclear neutrophil" BROAD [] synonym: "polynuclear neutrophilic leucocyte" BROAD [] synonym: "polynuclear neutrophilic leukocyte" BROAD [] xref: BTO:0000130 xref: CALOHA:TS-0688 xref: FMA:62860 xref: MESH:D009504 xref: MeSH:D009504 xref: NCIt:C12533 xref: SNOMEDCT:116712007 is_a: CL:0000094 ! granulocyte property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000776 name: immature neutrophil def: "Any of the immature forms of a neutrophil in which neutrophilic specific granules are present but other phenotypic features of the mature form may be lacking." [GOC:add, ISBN:0721601464] synonym: "immatuer neutrophilic leukocyte" EXACT [] synonym: "immature neutrocyte" EXACT [] synonym: "immature neutrophil leucocyte" EXACT [] synonym: "immature neutrophil leukocyte" EXACT [] synonym: "immature neutrophilic leucocyte" EXACT [] is_a: CL:0000775 ! neutrophil [Term] id: CL:0000777 name: mesangial phagocyte def: "A tissue-resident macrophage of the renal glomerular mesangium involved in the disposal and degradation of filtration residues, presentation of antigen to T cells and in tissue remodeling." [GOC:add, GOC:tfm, ISBN:0702022918, ISBN:3540536663, PMID:1600140, PMID:16146841] synonym: "mesangial cell" BROAD [] xref: NCIt:C13159 xref: SNOMEDCT:24259000 is_a: CL:0000864 ! tissue-resident macrophage relationship: located_in UBERON:0001008 ! renal system [Term] id: CL:0000778 name: mononuclear osteoclast def: "A specialized mononuclear osteoclast associated with the absorption and removal of bone, precursor of multinuclear osteoclasts." [GOC:add, GOC:tfm, PMID:12713016, PMID:15055519, PMID:17380158, PMID:9415452] comment: Morphology: mononuclear, highly vesicular. is_a: CL:0000092 ! osteoclast is_a: CL:0000842 ! mononuclear cell [Term] id: CL:0000779 name: multinuclear osteoclast def: "A specialized multinuclear osteoclast associated with the absorption and removal of bone." [GOC:add, PMID:12713016, PMID:9415452] comment: Morphology: multinucleated, highly vesicular. synonym: "multinucleated osteoclast" EXACT [] is_a: CL:0000092 ! osteoclast [Term] id: CL:0000780 name: multinuclear odontoclast def: "A specialized multinuclear osteoclast associated with the absorption and removal of cementum." [GOC:add, PMID:9415452] comment: Morphology: multinucleated, highly vesicular; location: roots of deciduous (milk) teeth. synonym: "multinucleated odontoclast" EXACT [] is_a: CL:0000588 ! odontoclast is_a: CL:0000779 ! multinuclear osteoclast [Term] id: CL:0000781 name: mononuclear odontoclast def: "A specialized mononuclear osteoclast associated with the absorption and removal of cementum." [GOC:add, PMID:9415452] comment: Morphology: Mononuclear, highly vesicular; location: roots of deciduous (milk) teeth. is_a: CL:0000588 ! odontoclast is_a: CL:0000778 ! mononuclear osteoclast [Term] id: CL:0000782 name: myeloid dendritic cell def: "A dendritic cell of the myeloid lineage." [GOC:add, PMID:10449155, PMID:17332250, PMID:9521319] comment: These cells are CD1a-negative, CD1b-positive, CD11a-positive, CD11c-positive, CD13-positive, CD14-negative, CD20-negative, CD21-negative, CD33-positive, CD40-negative, CD50-positive, CD54-positive, CD58-positive, CD68-negative, CD80-negative, CD83-negative, CD85j-positive, CD86-positive, CD89-negative, CD95-positive, CD120a-negative, CD120b-positive, CD123-negative, CD178-negative, CD206-negative, CD207-negative, CD209-negative, and TNF-alpha-negative. Upon TLR stimulation, they are capable of producing high levels of TNF-alpha, IL-6, CXCL8 (IL-8). subset: human_reference_atlas synonym: "CD11c+CD123- DC" EXACT [] synonym: "interdigitating cell" BROAD [] synonym: "mDC" EXACT [] synonym: "veiled cell" BROAD [] xref: BTO:0004721 is_a: CL:0000766 ! myeloid leukocyte is_a: CL:0000990 ! conventional dendritic cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000784 name: plasmacytoid dendritic cell def: "A dendritic cell type of distinct morphology, localization, and surface marker expression (CD123-positive) from other dendritic cell types and associated with early stage immune responses, particularly the release of physiologically abundant amounts of type I interferons in response to infection." [GOC:add, GOC:dsd, PMCID:PMC2118448, PMCID:PMC538703, PMID:15549123, PMID:17332250, PMID:17850486, PMID:20304825] subset: blood_and_immune_upper_slim subset: human_reference_atlas synonym: "DC2" EXACT [] synonym: "interferon-producing cell" EXACT [] synonym: "IPC" EXACT [] synonym: "lymphoid dendritic cell" EXACT [] synonym: "pDC" EXACT [] synonym: "plasmacytoid monocyte" EXACT [] synonym: "plasmacytoid T cell" EXACT [] synonym: "T-associated plasma cell" EXACT [] synonym: "type 2 DC" EXACT [] xref: BTO:0004625 xref: NCIt:C45236 is_a: CL:0000451 ! dendritic cell relationship: located_in UBERON:0002390 ! hematopoietic system property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000785 name: mature B cell def: "A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." [GOC:add, GOC:dsd, ISBN:0781735149] comment: Mature B cells are also reportedly CD10-negative, CD19-positive, CD22-positive, CD34-negative, CD48-positive, CD79a-positive, CD84-positive, CD127-negative, CD352-positive, RAG-negative, TdT-negative, Vpre-B-negative, and pre-BCR-negative. Transcription factors expressed: Pax5-positive. synonym: "mature B lymphocyte" EXACT [] synonym: "mature B-cell" EXACT [] synonym: "mature B-lymphocyte" EXACT [] xref: NCIt:C33058 is_a: CL:0000236 ! B cell disjoint_from: CL:0000816 ! immature B cell disjoint_from: CL:0000817 ! precursor B cell disjoint_from: CL:0000818 ! transitional stage B cell [Term] id: CL:0000786 name: plasma cell def: "A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." [GO_REF:0000031, GOC:add, GOC:dsd, http://en.wikipedia.org/wiki/Plasma_cell, ISBN:0721601464, ISBN:0781735149, PMID:19447676, PMID:20081059, PMID:20839338, PMID:20951740] comment: Plasma cells develop in the spleen and migrate to the bone marrow. Plasma cells are also reportedly CD5-negative, CD10-negative, CD19-positive, CD20-negative, CD21-negative, CD22-negative, CD23-negative, CD24-negative, CD25-negative, CD27-positive, CD34-negative, CD38-positive, CD40-positive, CD43-positive, CD45-positive, CD48-positive, CD53-low, CD80-negative, CD81-positive, CD86-positive, CD95-positive, CD196-negative, CD229-positive, CD270-positive, CD352-positive, CD361-positive, and IgD-negative. Transcription factors: BLIMP1-positive, IRF4-positive, PAX5-negative, SpiB-negative, Ets1-negative, and XBP1-positive. subset: blood_and_immune_upper_slim subset: human_reference_atlas synonym: "effector B cell" RELATED [] synonym: "effector B-cell" RELATED [] synonym: "plasma B cell" EXACT [] synonym: "plasma B-cell" EXACT [] synonym: "plasmacyte" EXACT [] synonym: "plasmocyte" EXACT [] xref: BTO:0000392 xref: FMA:70574 xref: MESH:D010950 xref: NCIt:C12486 xref: SNOMEDCT:113335003 is_a: CL:0000946 ! antibody secreting cell relationship: located_in UBERON:0000178 ! blood property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000787 name: memory B cell def: "A memory B cell is a mature B cell that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin. This cell type has the phenotype CD19-positive, CD20-positive, MHC Class II-positive, and CD138-negative." [GO_REF:0000031, GOC:add, GOC:dsd, GOC:rhs, http://en.wikipedia.org/wiki/Memory_B_cell, ISBN:0781735149, PMID:20081059, PMID:20839338] comment: Memory B-cells are also reportedly CD5-negative, CD10-negative, CD21-positive, CD22-positive, CD23-negative, CD24-positive, CD25-positive, CD27-positive, CD34-negative, CD38-negative, CD40-positive, CD43-negative, CD44-positive, CD45-positive, CD53-positive, CD80-negative, CD81-negative, CD86-positive, and CD196/CCR6-positive. subset: human_reference_atlas synonym: "memory B lymphocyte" EXACT [] synonym: "memory B-cell" EXACT [] synonym: "memory B-lymphocyte" EXACT [] is_a: CL:0000785 ! mature B cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000788 name: naive B cell def: "A naive B cell is a mature B cell that has the phenotype surface IgD-positive, surface IgM-positive, CD20-positive, CD27-negative and that has not yet been activated by antigen in the periphery." [GO_REF:0000031, GOC:add, GOC:dsd, GOC:rhs, ISBN:0781765196, PMID:19447676, PMID:20081059, PMID:20839338, PMID:20933013, PMID:22343568] comment: This cell type is compatible with the HIPC Lyoplate markers for 'naive B cell'. Per DSD: Naive B cells are also reportedly CD10-negative, CD19-positive, CD20-positive, CD21-positive, CD22-positive, CD25-negative, CD27-negative, CD34-negative, CD40-positive, CD43-negative, CD45-positive, CD48-positive, CD53-positive, CD80-negative, CD81-positive, CD84-positive, CD86-negative, CD95-negative, CD138-negative, CD150-positive, CD184/CXCR4-positive, CD185/CXCR5-positive, CD196/CCR6-positive, CD200-positive, CD229-positive, CD243-positive, CD289-positive, CD290-positive, CD352-positive, MHCII/HLA-DR-positive, cadherin 9-positive, and sIgH-positive, Transcription factors: Pax5-positive, ETS1-positive, FOXO1A-positive, KLF4-positive, KLF9-positive, MiTF-positive, OBF1-positive, PLZF-positive, and SpiB-positive. subset: human_reference_atlas synonym: "naive B lymphocyte" EXACT [] synonym: "naive B-cell" EXACT [] synonym: "naive B-lymphocyte" EXACT [] is_a: CL:0000785 ! mature B cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000789 name: alpha-beta T cell def: "A T cell that expresses an alpha-beta T cell receptor complex." [GOC:add, GOC:tfm, ISBN:0781735149] subset: blood_and_immune_upper_slim synonym: "alpha-beta T lymphocyte" EXACT [] synonym: "alpha-beta T-cell" EXACT [] synonym: "alpha-beta T-lymphocyte" EXACT [] is_a: CL:0000084 ! T cell disjoint_from: CL:0000798 ! gamma-delta T cell [Term] id: CL:0000790 name: immature alpha-beta T cell def: "An alpha-beta T cell that has an immature phenotype and has not completed T cell selection." [GOC:add, GOC:tfm, ISBN:0781735149] synonym: "immature alpha-beta T lymphocyte" EXACT [] synonym: "immature alpha-beta T-cell" EXACT [] synonym: "immature alpha-beta T-lymphocyte" EXACT [] is_a: CL:0000789 ! alpha-beta T cell is_a: CL:0002420 ! immature T cell [Term] id: CL:0000791 name: mature alpha-beta T cell def: "A alpha-beta T cell that has a mature phenotype." [GOC:add, GOC:tfm, ISBN:0781735149] synonym: "mature alpha-beta T lymphocyte" EXACT [] synonym: "mature alpha-beta T-cell" EXACT [] synonym: "mature alpha-beta T-lymphocyte" EXACT [] is_a: CL:0000789 ! alpha-beta T cell is_a: CL:0002419 ! mature T cell [Term] id: CL:0000792 name: CD4-positive, CD25-positive, alpha-beta regulatory T cell def: "A CD4-positive, CD25-positive, alpha-beta T cell that regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release." [GOC:add, GOC:tfm, ISBN:0781735149, PMID:19464985, PMID:22343568] comment: This cell type is compatible with the HIPC Lyoplate markers for 'Treg'. The inclusion of CD127lo in the logical definition is compatible with both human and mouse T cells of this subtype. synonym: "CD4-positive, CD25-positive, alpha-beta regulatory T lymphocyte" EXACT [] synonym: "CD4-positive, CD25-positive, alpha-beta regulatory T-cell" EXACT [] synonym: "CD4-positive, CD25-positive, alpha-beta regulatory T-lymphocyte" EXACT [] synonym: "suppressor T cell" BROAD [] synonym: "suppressor T lymphocyte" BROAD [] synonym: "suppressor T-cell" BROAD [] synonym: "suppressor T-lymphocyte" BROAD [] synonym: "Treg" BROAD [PMID:22343568] is_a: CL:0000624 ! CD4-positive, alpha-beta T cell is_a: CL:0000815 ! regulatory T cell [Term] id: CL:0000793 name: CD4-positive, alpha-beta intraepithelial T cell def: "A CD4-positive, alpha-beta T cell that is found in the columnar epithelium of the gastrointestinal tract." [GOC:add, GOC:tfm, ISBN:0781735149] subset: human_reference_atlas synonym: "CD4-positive, alpha-beta intraepithelial T lymphocyte" EXACT [] synonym: "CD4-positive, alpha-beta intraepithelial T-cell" EXACT [] synonym: "CD4-positive, alpha-beta intraepithelial T-lymphocyte" EXACT [] synonym: "IEL" BROAD [] synonym: "intraepithelial lymphocyte" BROAD [] is_a: CL:0000624 ! CD4-positive, alpha-beta T cell is_a: CL:0000797 ! alpha-beta intraepithelial T cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000794 name: CD8-positive, alpha-beta cytotoxic T cell def: "A CD8-positive, alpha-beta T cell that is capable of killing target cells in an antigen specific manner with the phenotype perforin-positive and granzyme B-positive." [GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, ISBN:0781735149] comment: Note that while T cells of this subset are loosely referred to 'cytotoxic T cells,' as many other T cell types, including CD4-positive, alpha-beta T cells and gamma-delta T cells exhibit cytotoxicity in vitro and in vivo. subset: human_reference_atlas synonym: "CD8-positive, alpha-beta cytotoxic T lymphocyte" EXACT [] synonym: "CD8-positive, alpha-beta cytotoxic T-cell" EXACT [] synonym: "CD8-positive, alpha-beta cytotoxic T-lymphocyte" EXACT [] synonym: "cytotoxic T cell" BROAD [] synonym: "cytotoxic T lymphocyte" BROAD [] synonym: "cytotoxic T-cell" BROAD [] synonym: "cytotoxic T-lymphocyte" BROAD [] synonym: "killer T cell" BROAD [] synonym: "killer T lymphocyte" BROAD [] synonym: "killer T-cell" BROAD [] synonym: "killer T-lymphocyte" BROAD [] xref: CALOHA:TS-0190 xref: FMA:70573 is_a: CL:0000625 ! CD8-positive, alpha-beta T cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000795 name: CD8-positive, alpha-beta regulatory T cell def: "A CD8-positive, alpha-beta T cell that regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release." [GOC:add, GOC:tfm, ISBN:0781735149] synonym: "CD8+ regulatory T cell" EXACT [] synonym: "CD8+ T(reg)" EXACT [] synonym: "CD8+ Treg" EXACT [] synonym: "CD8-positive T(reg)" EXACT [] synonym: "CD8-positive Treg" EXACT [] synonym: "CD8-positive, alpha-beta regulatory T lymphocyte" EXACT [] synonym: "CD8-positive, alpha-beta regulatory T-cell" EXACT [] synonym: "CD8-positive, alpha-beta regulatory T-lymphocyte" EXACT [] synonym: "CD8-positive, alpha-beta Treg" EXACT [] synonym: "suppressor T cell" BROAD [] synonym: "suppressor T lymphocyte" BROAD [] synonym: "suppressor T-cell" BROAD [] synonym: "suppressor T-lymphocyte" BROAD [] is_a: CL:0000625 ! CD8-positive, alpha-beta T cell is_a: CL:0000815 ! regulatory T cell [Term] id: CL:0000796 name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell def: "A alpha-beta intraepithelial T cell found in the columnar epithelium of the gastrointestinal tract. Intraepithelial T cells often have distinct developmental pathways and activation requirements." [GOC:add, ISBN:0781735149] subset: human_reference_atlas synonym: "CD8-positive, alpha-beta intraepithelial T lymphocyte" EXACT [] synonym: "CD8-positive, alpha-beta intraepithelial T-cell" EXACT [] synonym: "CD8-positive, alpha-beta intraepithelial T-lymphocyte" EXACT [] synonym: "IEL" BROAD [] synonym: "intraepithelial lymphocyte" BROAD [] is_a: CL:0000797 ! alpha-beta intraepithelial T cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000797 name: alpha-beta intraepithelial T cell def: "A mature alpha-beta T cell of the columnar epithelium of the gastrointestinal tract. Intraepithelial T cells often have distinct developmental pathways and activation requirements." [GOC:add, GOC:tfm, ISBN:0781735149] synonym: "alpha-beta intraepithelial T lymphocyte" EXACT [] synonym: "alpha-beta intraepithelial T-cell" EXACT [] synonym: "alpha-beta intraepithelial T-lymphocyte" EXACT [] synonym: "IEL" BROAD [] synonym: "intraepithelial lymphocyte" BROAD [] is_a: CL:0000791 ! mature alpha-beta T cell is_a: CL:0002496 ! intraepithelial lymphocyte [Term] id: CL:0000798 name: gamma-delta T cell def: "A T cell that expresses a gamma-delta T cell receptor complex." [GOC:add, GOC:tfm, ISBN:0781735149] comment: Note that gamma-delta T cells have both thymic and extrathymic differentiation pathways. subset: blood_and_immune_upper_slim subset: human_reference_atlas synonym: "gamma-delta T lymphocyte" EXACT [] synonym: "gamma-delta T-cell" EXACT [] synonym: "gamma-delta T-lymphocyte" EXACT [] synonym: "gammadelta T cell" EXACT [] synonym: "gd T cell" RELATED abbreviation [] is_a: CL:0000084 ! T cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000799 name: immature gamma-delta T cell def: "A gamma-delta T cell that has an immature phenotype." [GOC:add, ISBN:0781735149] comment: Note that gamma-delta T cells have both thymic and extrathymic differentiation pathways. synonym: "immature gamma-delta T lymphocyte" EXACT [] synonym: "immature gamma-delta T-cell" EXACT [] synonym: "immature gamma-delta T-lymphocyte" EXACT [] is_a: CL:0000798 ! gamma-delta T cell is_a: CL:0002420 ! immature T cell [Term] id: CL:0000800 name: mature gamma-delta T cell def: "A gamma-delta T cell that has a mature phenotype. These cells can be found in tissues and circulation where they express unique TCR repertoire depending on their location." [GOC:add, GOC:tfm, ISBN:0781735149] synonym: "mature gamma-delta T lymphocyte" EXACT [] synonym: "mature gamma-delta T-cell" EXACT [] synonym: "mature gamma-delta T-lymphocyte" EXACT [] is_a: CL:0000798 ! gamma-delta T cell is_a: CL:0002419 ! mature T cell [Term] id: CL:0000801 name: gamma-delta intraepithelial T cell def: "A mature gamma-delta T cell that is found in the columnar epithelium of the gastrointestinal tract. These cells participate in mucosal immune responses." [GOC:add, GOC:tfm, ISBN:0781735149] synonym: "gamma-delta intraepithelial T lymphocyte" EXACT [] synonym: "gamma-delta intraepithelial T-cell" EXACT [] synonym: "gamma-delta intraepithelial T-lymphocyte" EXACT [] synonym: "IEL" BROAD [] synonym: "intraepithelial lymphocyte" BROAD [] is_a: CL:0000800 ! mature gamma-delta T cell is_a: CL:0002496 ! intraepithelial lymphocyte [Term] id: CL:0000802 name: CD8-alpha alpha positive, gamma-delta intraepithelial T cell def: "A gamma-delta intraepithelial T cell that has the phenotype CD8-alpha alpha-positive." [GOC:add, GOC:tfm, ISBN:0781735149] subset: human_reference_atlas synonym: "CD8-positive, gamma-delta intraepithelial T lymphocyte" EXACT [] synonym: "CD8-positive, gamma-delta intraepithelial T-cell" EXACT [] synonym: "CD8-positive, gamma-delta intraepithelial T-lymphocyte" EXACT [] synonym: "IEL" BROAD [] synonym: "intraepithelial lymphocyte" BROAD [] is_a: CL:0000801 ! gamma-delta intraepithelial T cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000803 name: CD4-negative CD8-negative gamma-delta intraepithelial T cell def: "A gamma-delta intraepithelial T cell that has the phenotype CD4-negative and CD8-negative." [GOC:add, GOC:tfm, ISBN:0781735149] synonym: "CD4-positive, gamma-delta intraepithelial T lymphocyte" EXACT [] synonym: "CD4-positive, gamma-delta intraepithelial T-cell" EXACT [] synonym: "CD4-positive, gamma-delta intraepithelial T-lymphocyte" EXACT [] synonym: "IEL" BROAD [] synonym: "intraepithelial lymphocyte" BROAD [] is_a: CL:0000801 ! gamma-delta intraepithelial T cell [Term] id: CL:0000805 name: immature single positive thymocyte def: "A thymocyte that has the phenotype CD4-negative, CD8-positive, CD44-negative, CD25-negative, and pre-TCR-positive." [GO_REF:0000031, GOC:add, GOC:tfm, http://www.immgen.org/index_content.html, ISBN:0781735149] comment: Note that this type of thymocyte has passed the beta-selection checkpoint and is rapidly proliferating and rearranging the T cell receptor alpha chain and expressing the CD8 coreceptor. This stage comes between the DN4 and DP stages. synonym: "immature single positive T cell" EXACT [] synonym: "immature single positive T lymphocyte" EXACT [] synonym: "immature single positive T-lymphocyte" EXACT [] synonym: "ISP" EXACT [] synonym: "T.ISP.th" EXACT [] is_a: CL:0000893 ! thymocyte [Term] id: CL:0000806 name: DN2 thymocyte def: "A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-positive." [GO_REF:0000031, GOC:add, GOC:tfm, ISBN:0781735149] comment: Note that this type of thymocyte is at the earliest stage of T cell receptor rearrangement of the beta, gamma, and delta T cell receptor chains. Also, there is growing evidence that molecular markers characterizing double negative thymocytes are different across species, especially in mouse versus human thymus. If in doubt, please consider using CL:0002489 'double negative thymocyte'. synonym: "DN2 alpha-beta immature T lymphocyte" EXACT [] synonym: "DN2 alpha-beta immature T-cell" EXACT [] synonym: "DN2 alpha-beta immature T-lymphocyte" EXACT [] synonym: "DN2 cell" EXACT [] synonym: "DN2 immature T cell" EXACT [] synonym: "double negative 2" EXACT [] synonym: "preT.DN2.Th" EXACT [] synonym: "TN2 cell" EXACT [] synonym: "TN2 thymocyte" EXACT [] is_a: CL:0002489 ! double negative thymocyte [Term] id: CL:0000807 name: DN3 thymocyte def: "A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-negative, and CD25-positive and expressing the T cell receptor beta-chain in complex with the pre-T cell receptor alpha chain." [GO_REF:0000031, GOC:add, GOC:tfm, ISBN:0781735149] comment: There is growing evidence that molecular markers characterizing double negative thymocytes are different across species, especially in mouse versus human thymus. If in doubt, please consider using CL:0002489 'double negative thymocyte'. synonym: "DN3 alpha-beta immature T lymphocyte" EXACT [] synonym: "DN3 alpha-beta immature T-cell" EXACT [] synonym: "DN3 alpha-beta immature T-lymphocyte" EXACT [] synonym: "DN3 cell" EXACT [] synonym: "DN3 immature T cell" EXACT [] synonym: "double negative 3" EXACT [] synonym: "early cortical thymocyte" BROAD [] synonym: "preT.DN3.Th" EXACT [] synonym: "TN3 cell" EXACT [] synonym: "TN3 thymocyte" EXACT [] is_a: CL:0002489 ! double negative thymocyte [Term] id: CL:0000808 name: DN4 thymocyte def: "A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-negative, CD25-negative, and pre-TCR-positive." [GO_REF:0000031, GOC:add, GOC:tfm, ISBN:0781735149] comment: Note that this type of thymocyte has passed the beta-selection checkpoint and is rapidly proliferating and beginning to rearrange the T cell receptor alpha chain. There is growing evidence that molecular markers characterizing double negative thymocytes are different across species, especially in mouse versus human thymus. If in doubt, please consider using CL:0002489 'double negative thymocyte'. synonym: "DN4 alpha-beta immature T lymphocyte" EXACT [] synonym: "DN4 alpha-beta immature T-lymphocyte" EXACT [] synonym: "DN4 cell" EXACT [] synonym: "DN4 immature T cell" EXACT [] synonym: "DN4 immature T-cell" EXACT [] synonym: "double negative 4" EXACT [] synonym: "early cortical thymocyte" BROAD [] synonym: "T.DN4.th" EXACT [] is_a: CL:0002489 ! double negative thymocyte [Term] id: CL:0000809 name: double-positive, alpha-beta thymocyte def: "A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors." [GO_REF:0000031, GOC:add, GOC:tfm, ISBN:0781735149] comment: Thymocytes of this stage are undergoing positive and negative selection. subset: human_reference_atlas synonym: "double-positive, alpha-beta immature T lymphocyte" EXACT [] synonym: "DP cell" EXACT [] synonym: "DP thymocyte" EXACT [] synonym: "late cortical thymocyte" BROAD [] is_a: CL:0000790 ! immature alpha-beta T cell is_a: CL:0000893 ! thymocyte property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000810 name: CD4-positive, alpha-beta thymocyte def: "An immature alpha-beta T cell that is located in the thymus and is CD4-positive and CD8-negative." [GO_REF:0000031, GOC:add, GOC:tfm, ISBN:0781735149] synonym: "CD4-positive, alpha-beta immature T lymphocyte" EXACT [] synonym: "CD4-positive, alpha-beta immature T-cell" EXACT [] synonym: "CD4-positive, alpha-beta immature T-lymphocyte" EXACT [] synonym: "SP CD4 cell" EXACT [] is_a: CL:0000790 ! immature alpha-beta T cell is_a: CL:0000893 ! thymocyte [Term] id: CL:0000811 name: CD8-positive, alpha-beta thymocyte def: "An immature alpha-beta T cell that is located in the thymus and is CD8-positive and CD4-negative." [GO_REF:0000031, GOC:add, GOC:tfm, ISBN:0781735149] synonym: "CD8-positive, alpha-beta immature T cell" RELATED [] synonym: "CD8-positive, alpha-beta immature T lymphocyte" EXACT [] synonym: "CD8-positive, alpha-beta immature T-cell" EXACT [] synonym: "CD8-positive, alpha-beta immature T-lymphocyte" EXACT [] synonym: "SP CD8 cell" EXACT [] is_a: CL:0000790 ! immature alpha-beta T cell is_a: CL:0000893 ! thymocyte [Term] id: CL:0000813 name: memory T cell def: "A long-lived, antigen-experienced T cell that has acquired a memory phenotype including distinct surface markers and the ability to differentiate into an effector T cell upon antigen reexposure." [GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, ISBN:0781735149] synonym: "memory T lymphocyte" EXACT [] synonym: "memory T-cell" EXACT [] synonym: "memory T-lymphocyte" EXACT [] xref: BTO:0003435 xref: NCIt:C104082 is_a: CL:0002419 ! mature T cell disjoint_from: CL:0000898 ! naive T cell relationship: located_in UBERON:0002390 ! hematopoietic system [Term] id: CL:0000814 name: mature NK T cell def: "A mature alpha-beta T cell of a distinct lineage that bears natural killer markers and a T cell receptor specific for a limited set of ligands. NK T cells have activation and regulatory roles particularly early in an immune response." [GOC:add, ISBN:0781735149] subset: human_reference_atlas synonym: "mature natural killer T cell" EXACT [] synonym: "mature natural killer T lymphocyte" EXACT [] synonym: "mature natural killer T-cell" EXACT [] synonym: "mature natural killer T-lymphocyte" EXACT [] synonym: "mature NK T lymphocyte" EXACT [] synonym: "mature NK T-cell" EXACT [] synonym: "mature NK T-lymphocyte" EXACT [] synonym: "mature NKT cell" EXACT [] is_a: CL:0000791 ! mature alpha-beta T cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000815 name: regulatory T cell def: "A T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release." [GO_REF:0000031, GOC:add] comment: This cell type may express FoxP3 and CD25 and secretes IL-10 and TGF-beta. subset: human_reference_atlas synonym: "regulatory T lymphocyte" EXACT [] synonym: "regulatory T-cell" EXACT [] synonym: "regulatory T-lymphocyte" EXACT [] synonym: "suppressor T cell" BROAD [] synonym: "suppressor T lymphocyte" BROAD [] synonym: "suppressor T-cell" BROAD [] synonym: "suppressor T-lymphocyte" BROAD [] synonym: "Treg" EXACT [] xref: BTO:0004520 xref: FMA:84070 xref: MESH:D050378 is_a: CL:0002419 ! mature T cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000816 name: immature B cell def: "An immature B cell is a B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation." [GO_REF:0000031, GOC:add, GOC:dsd, GOC:rhs, GOC:tfm, ISBN:0781735149, PMID:20081059, PMID:20839338] comment: Immature B cells are also reportedly CD5-positive, CD10-positive, CD19-positive, CD20-positive, CD21-positive, CD22-positive, CD24-positive, CD25-negative, CD27-negative, CD34-negative, CD38-positive, CD40-positive, CD43-negative, CD45-positive, CD48-positive, CD53-positive, CD79a-positive, CD80-negative, CD81-positive, CD86-negative, CD95-negative, CD127-negative, CD138-negative, CD185-positive, CD196-positive, MHCII/HLA-DR-positive, RAG-positive, TdT-negative, Vpre-B-negative, and preBCR-negative. Transcription factors expressed: Pax5-positive. subset: blood_and_immune_upper_slim subset: human_reference_atlas synonym: "immature B lymphocyte" EXACT [] synonym: "immature B-cell" EXACT [] synonym: "immature B-lymphocyte" EXACT [] synonym: "newly formed B cell" EXACT [ISBN:781735149] xref: NCIt:C32766 is_a: CL:0000236 ! B cell relationship: located_in UBERON:0002390 ! hematopoietic system property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000817 name: precursor B cell def: "A precursor B cell is a B cell with the phenotype CD10-positive." [GO_REF:0000031, GOC:rhs, GOC:tfm] subset: human_reference_atlas synonym: "pre-B cell" RELATED [] xref: BTO:0001133 xref: CALOHA:TS-0819 is_a: CL:0000236 ! B cell disjoint_from: CL:0000826 ! pro-B cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000818 name: transitional stage B cell def: "An immature B cell of an intermediate stage between the pre-B cell stage and the mature naive stage with the phenotype surface IgM-positive and CD19-positive, and are subject to the process of B cell selection. A transitional B cell migrates from the bone marrow into the peripheral circulation, and then to the spleen." [GO_REF:0000031, GOC:add, ISBN:0781735149, PMID:12810111, PMID:22343568] comment: This cell type is compatible with the HIPC Lyoplate markers for 'transitional B cell'. subset: human_reference_atlas synonym: "T1 B cell" NARROW [] synonym: "T2 B cell" NARROW [] synonym: "T3 B cell" NARROW [] synonym: "transitional B cell" EXACT [PMID:22343568] synonym: "transitional stage B lymphocyte" EXACT [] synonym: "transitional stage B-cell" EXACT [] synonym: "transitional stage B-lymphocyte" EXACT [] is_a: CL:0000236 ! B cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000819 name: B-1 B cell def: "A B cell of distinct lineage and surface marker expression. B-1 B cells are thought to be the primary source of natural IgM immunoglobulin, that is, IgM produced in large quantities without prior antigenic stimulation and generally reactive against various microorganisms, as well as the source of T-independent IgA immunoglobulin in the mucosal areas. These cells are CD43-positive." [GO_REF:0000031, GOC:add, GOC:dsd, http://en.wikipedia.org/wiki/B-1_cell, PMID:11861604, PMID:20933013, PMID:21220451] comment: There are small numbers of B-1 cells found in the lymph nodes and spleen, while larger numbers can be found in the peritoneal and pleural cavities. B-1 B cells are reportedly CD11b-positive, CD20-positive, CD21-positive, CD27-positive, CD44-positive, CD45RB-positive, CD48-positive, CD70-negative, CD150-positive, CD244-negative, CD352-positive, sIgM-positive, and sIgD-low. synonym: "B-1 B lymphocyte" EXACT [] synonym: "B-1 B-cell" EXACT [] synonym: "B-1 B-lymphocyte" EXACT [] synonym: "B-1 cell" EXACT [] synonym: "B1 B cell" EXACT [] synonym: "B1 B lymphocyte" EXACT [] synonym: "B1 B-cell" EXACT [] synonym: "B1 B-lymphocyte" EXACT [] synonym: "B1 cell" EXACT [] is_a: CL:0000785 ! mature B cell [Term] id: CL:0000820 name: B-1a B cell def: "A B-1 B cell that has the phenotype CD5-positive." [GOC:add, PMID:11861604] synonym: "B-1a B lymphocyte" EXACT [] synonym: "B-1a B-cell" EXACT [] synonym: "B-1a B-lymphocyte" EXACT [] synonym: "B1a B cell" EXACT [] synonym: "B1a B lymphocyte" EXACT [] synonym: "B1a B-cell" EXACT [] synonym: "B1a B-lymphocyte" EXACT [] synonym: "B1a cell" EXACT [] synonym: "CD5(+) B1 cell" EXACT [] synonym: "CD5+ B1 cell" EXACT [] synonym: "CD5-positive B1 cell" EXACT [] is_a: CL:0000819 ! B-1 B cell [Term] id: CL:0000821 name: B-1b B cell def: "A B-1 B cell that has the phenotype CD5-negative, but having other phenotypic attributes of a B-1 B cell." [GOC:add, PMID:11861604] synonym: "B-1b B lymphocyte" EXACT [] synonym: "B-1b B-cell" EXACT [] synonym: "B-1b B-lymphocyte" EXACT [] synonym: "B1b B cell" EXACT [] synonym: "B1b B lymphocyte" EXACT [] synonym: "B1b B-cell" EXACT [] synonym: "B1b B-lymphocyte" EXACT [] synonym: "B1b cell" EXACT [] is_a: CL:0000819 ! B-1 B cell [Term] id: CL:0000822 name: B-2 B cell def: "A conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells. These cells are CD43-negative." [GOC:add, GOC:dsd, GOC:tfm, ISBN:0781735149, PMID:11861604, PMID:20933013] comment: B-2 B cells are reportedly CD48-positive, CD244-negative, and CD352-positive. synonym: "B-0 B cell" RELATED [] synonym: "B-2 B lymphocyte" EXACT [] synonym: "B-2 B-cell" EXACT [] synonym: "B-2 B-lymphocyte" EXACT [] synonym: "B2 B cell" EXACT [] synonym: "B2 B lymphocyte" EXACT [] synonym: "B2 B-cell" EXACT [] synonym: "B2 B-lymphocyte" EXACT [] synonym: "B2 cell" EXACT [] is_a: CL:0000785 ! mature B cell [Term] id: CL:0000823 name: immature natural killer cell def: "A natural killer cell that is developmentally immature and expresses natural killer cell receptors (NKR)." [GO_REF:0000031, GOC:add, ISBN:0781735149, PMID:12457618] comment: In mouse the NKR are Ly49 molecules and in human these cells express KIR molecules. synonym: "immature NK cell" EXACT [] synonym: "p-NK" RELATED [PMID:12457618] is_a: CL:0000623 ! natural killer cell disjoint_from: CL:0000824 ! mature natural killer cell disjoint_from: CL:0000937 ! pre-natural killer cell [Term] id: CL:0000824 name: mature natural killer cell def: "A natural killer cell that is developmentally mature and expresses a variety of inhibitory and activating receptors that recognize MHC class I and other stress related molecules." [GO_REF:0000031, GOC:add, ISBN:0781735149, PMID:14685782] subset: human_reference_atlas synonym: "LAK cell" BROAD [PMID:14685782] synonym: "lymphokine activated killer cell" BROAD [PMID:14685782] synonym: "mature NK cell" EXACT [] is_a: CL:0000623 ! natural killer cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000825 name: pro-NK cell def: "A lymphoid progenitor cell that is committed to the natural killer cell lineage, expressing CD122 (IL-15) receptor, but lacking many of the phenotypic characteristics of later stages of natural killer cell development such as expression of NK activating and inhibitory molecules. In human this cell has the phenotype CD34-positive, CD45RA-positive, CD10-positive, CD117-negative, and CD161 negative." [GO_REF:0000031, GOC:add, GOC:pam, PMID:11532393, PMID:12457618, PMID:15032583, PMID:15766674] comment: Most markers only described for human pro NK cells. synonym: "natural killer cell progenitor" EXACT [] synonym: "NKP" EXACT [PMID:12457618, PMID:15032583, PMID:15766674] synonym: "null cell" RELATED [PMID:11532393] synonym: "preNK cell" RELATED [PMID:11532393] synonym: "pro-natural killer cell" EXACT [] is_a: CL:0000838 ! lymphoid lineage restricted progenitor cell [Term] id: CL:0000826 name: pro-B cell def: "A progenitor cell of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but not yet fully committed to the B cell lineage until the expression of PAX5 occurs." [GOC:add, GOC:dsd, ISBN:0781735149, PMID:12633665, PMID:16551251, PMID:18432934] comment: Human pro-B cells are reportedly CD10-positive, CD22-positive, CD34-positive, CD38-positive, CD45-low, CD48-positive, CD79a-positive, CD127-positive, CD184-positive, RAG-positive, TdT-positive, Vpre-B-positive, pre-BCR-negative, IgD-negative, and IgM-negative. Transcription factors expressed: Pax5-positive, EBF-positive, E2A-negative, Ikaros-negative, and PU.1-negative. subset: human_reference_atlas synonym: "pre-B cell (Philadelphia nomenclature)" RELATED [PMID:11244048] synonym: "pre-pro B cell" BROAD [PMID:17582343] synonym: "pro-B lymphocyte" EXACT [] synonym: "pro-B-cell" EXACT [] synonym: "pro-B-lymphocyte" EXACT [] synonym: "progenitor B cell" EXACT [] synonym: "progenitor B lymphocyte" EXACT [] synonym: "progenitor B-cell" EXACT [] synonym: "progenitor B-lymphocyte" EXACT [] xref: BTO:0003104 is_a: CL:0000838 ! lymphoid lineage restricted progenitor cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000827 name: pro-T cell def: "A lymphoid progenitor cell of the T cell lineage, with some lineage specific marker expression, but not yet fully committed to the T cell lineage." [GOC:add, ISBN:0781735149] synonym: "DN1 cell" NARROW [] synonym: "DN1 thymocyte" NARROW [] synonym: "pro-T lymphocyte" EXACT [] synonym: "progenitor T cell" EXACT [] synonym: "TN1 cell" NARROW [] is_a: CL:0000838 ! lymphoid lineage restricted progenitor cell [Term] id: CL:0000828 name: thromboblast def: "A progenitor cell of the thrombocyte, a nucleated blood cell involved in coagulation typically seen in birds and other non-mammalian vertebrates." [GOC:add, GOC:tfm, PMID:7758949] comment: Note that this is a non-mammalian cell type. is_a: CL:0000763 ! myeloid cell is_a: CL:0000839 ! myeloid lineage restricted progenitor cell [Term] id: CL:0000829 name: basophilic myeloblast def: "A myeloblast committed to the basophil lineage." [GOC:add, ISBN:0721601464] is_a: CL:0000835 ! myeloblast [Term] id: CL:0000830 name: basophilic promyelocyte def: "A promyelocyte committed to the basophil lineage." [GOC:add, ISBN:0721601464] xref: FMA:84208 xref: SNOMEDCT:71170001 is_a: CL:0000836 ! promyelocyte [Term] id: CL:0000831 name: mast cell progenitor def: "A progenitor cell of the mast cell lineage. Markers for this cell are FceRIa-low, CD117-positive, CD9-positive, T1/ST2-positive, SCA1-negative, and lineage-negative." [GOC:add, GOC:dsd, http://www.copewithcytokines.de, PMCID:PMC1183570, PMCID:PMC1312421, PMID:8629001, PMID:9354811] comment: MCP are CD16-positive, CD32-positive, CD34-positive, CD45-positive, integrin beta-7-positive, and lin-negative (CD2, CD3e, CD4, CD5, CD8a, CD14, CD19, CD20, CD27, integrin alpha-M, ly6c, ly6g, NCAM-1, and ter119). These cells also express the transcription factors GATA-1, GATA-2, and MITF, but not C/EBPa. synonym: "CFU-Mast" RELATED [] synonym: "CFU-MC" RELATED [] synonym: "colony forming unit mast cell" RELATED [] synonym: "MCP" EXACT [] is_a: CL:0000763 ! myeloid cell is_a: CL:0000839 ! myeloid lineage restricted progenitor cell [Term] id: CL:0000832 name: eosinophilic myeloblast def: "A myeloblast committed to the eosinophil lineage." [GOC:add, ISBN:0721601464] xref: SNOMEDCT:259719000 is_a: CL:0000835 ! myeloblast [Term] id: CL:0000833 name: eosinophilic promyelocyte def: "A promyelocyte committed to the eosinophil lineage." [GOC:add, ISBN:0721601464] xref: FMA:84199 xref: SNOMEDCT:4029003 is_a: CL:0000836 ! promyelocyte [Term] id: CL:0000834 name: neutrophil progenitor cell def: "A progenitor cell of the neutrophil lineage." [GOC:add, GOC:tfm, ISBN:0721601464] synonym: "neutrophil stem cell" RELATED [] is_a: CL:0000763 ! myeloid cell is_a: CL:0002191 ! granulocytopoietic cell [Term] id: CL:0000835 name: myeloblast def: "The most primitive precursor in the granulocytic series, having fine, evenly distributed chromatin, several nucleoli, a high nuclear-to-cytoplasmic ration (5:1-7:1), and a nongranular basophilic cytoplasm. They reside in the bone marrow." [GOC:add, http://en.wikipedia.org/wiki/Myeloblast, http://www.cap.org, ISBN:0721601464] xref: BTO:0000187 xref: FMA:83524 xref: NCIt:C13015 xref: SNOMEDCT:15622002 is_a: CL:0000763 ! myeloid cell is_a: CL:0002191 ! granulocytopoietic cell [Term] id: CL:0000836 name: promyelocyte def: "A precursor in the granulocytic series, being a cell intermediate in development between a myeloblast and myelocyte, that has distinct nucleoli, a nuclear-to-cytoplasmic ratio of 5:1 to 3:1, and containing a few primary cytoplasmic granules. Markers for this cell are fucosyltransferase FUT4-positive, CD33-positive, integrin alpha-M-negative, low affinity immunoglobulin gamma Fc region receptor III-negative, and CD24-negative." [GOC:add, GOC:amm, GOC:tfm, http://www.cap.org, ISBN:0721601464] subset: human_reference_atlas xref: CALOHA:TS-0825 xref: FMA:83530 xref: NCIt:C13114 xref: SNOMEDCT:43446009 is_a: CL:0000763 ! myeloid cell is_a: CL:0002191 ! granulocytopoietic cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000837 name: hematopoietic multipotent progenitor cell def: "A hematopoietic multipotent progenitor cell is multipotent, but not capable of long-term self-renewal. These cells are characterized as lacking lineage cell surface markers and being CD34-positive in both mice and humans." [GOC:add, GOC:tfm, PMID:19022770] comment: Markers differ between mouse and human. subset: blood_and_immune_upper_slim subset: human_reference_atlas synonym: "hemopoietic progenitor cell" EXACT [] synonym: "MPP" EXACT [] xref: BTO:0000725 xref: CALOHA:TS-0448 is_a: CL:0000988 ! hematopoietic cell disjoint_from: CL:0002032 ! hematopoietic oligopotent progenitor cell relationship: located_in UBERON:0002390 ! hematopoietic system property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000838 name: lymphoid lineage restricted progenitor cell def: "A progenitor cell restricted to the lymphoid lineage." [GOC:add, GOC:tfm] comment: Note that this is a class of cell types, not an identified single cell type. synonym: "lymphoid progenitor cell" BROAD [] xref: BTO:0004731 xref: CALOHA:TS-2025 xref: FMA:70338 is_a: CL:0002031 ! hematopoietic lineage restricted progenitor cell disjoint_from: CL:0000839 ! myeloid lineage restricted progenitor cell [Term] id: CL:0000839 name: myeloid lineage restricted progenitor cell def: "A progenitor cell restricted to the myeloid lineage." [GOC:add, GOC:tfm, PMID:19022770] comment: Note that this is a class of cell types, not an identified single cell type. synonym: "myeloid progenitor cell" BROAD [] xref: BTO:0004730 xref: CALOHA:TS-2099 xref: FMA:70339 is_a: CL:0002031 ! hematopoietic lineage restricted progenitor cell relationship: located_in UBERON:0002390 ! hematopoietic system [Term] id: CL:0000840 name: immature conventional dendritic cell def: "An immature cell of the conventional dendritic cell lineage, characterized by high levels of antigen uptake via endocytosis, macropinocytosis, and phagocytosis, and typically found resident in the tissues. Markers for this cell are CD80-low, CD86-low, and MHC-II-low." [GOC:add, GOC:tfm, PMID:9521319] subset: human_reference_atlas synonym: "immature myeloid dendritic cell" NARROW [] is_a: CL:0000766 ! myeloid leukocyte is_a: CL:0000990 ! conventional dendritic cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000841 name: mature conventional dendritic cell def: "A mature cell of the conventional dendritic cell lineage, characterized by a high capacity for antigen presentation and typically found in a lymph node." [GOC:add, GOC:tfm, PMID:9521319] synonym: "mature dendritic cell" BROAD [GOC:add] synonym: "mature myeloid dendritic cell" NARROW [] xref: FMA:83038 is_a: CL:0000766 ! myeloid leukocyte is_a: CL:0000990 ! conventional dendritic cell [Term] id: CL:0000842 name: mononuclear cell def: "A leukocyte with a single non-segmented nucleus in the mature form." [GOC:add] subset: blood_and_immune_upper_slim synonym: "mononuclear leukocyte" EXACT [] synonym: "peripheral blood mononuclear cell" NARROW [] xref: BTO:0000878 xref: CALOHA:TS-0768 xref: FMA:86713 xref: NCIt:C12954 xref: SNOMEDCT:404798000 is_a: CL:0000738 ! leukocyte relationship: located_in UBERON:0002390 ! hematopoietic system [Term] id: CL:0000843 name: follicular B cell def: "A resting mature B cell that has the phenotype IgM-positive, IgD-positive, CD23-positive and CD21-positive, and found in the B cell follicles of the white pulp of the spleen or the corticol areas of the peripheral lymph nodes. This cell type is also described as being CD19-positive, B220-positive, AA4-negative, CD43-negative, and CD5-negative." [GOC:add, GOC:dsd, http://en.wikipedia.org/wiki/Follicular_B_Cells, ISBN:0781735149, PMCID:PMC2193793, PMID:20933013] comment: Follicular B cells are also reportedly CD48-positive, CD84-positive, CD229-positive, and CD352-positive. synonym: "Fo B cell" EXACT [] synonym: "Fo B-cell" EXACT [] synonym: "follicular B lymphocyte" EXACT [] synonym: "follicular B-cell" EXACT [] synonym: "follicular B-lymphocyte" EXACT [] is_a: CL:0000822 ! B-2 B cell [Term] id: CL:0000844 name: germinal center B cell def: "A rapidly cycling mature B cell that has distinct phenotypic characteristics and is involved in T-dependent immune responses and located typically in the germinal centers of lymph nodes. This cell type expresses Ly77 after activation." [GOC:add, GOC:dsd, GOC:tfm, ISBN:0781735149, PMID:19447676, PMID:20933013] comment: Germinal center B cells are also reportedly CD10-positive, CD19-positive, CD20-positive, CD38-positive, CD44-low, CD45-positive, CD48-positive, CD95-positive, CD352-positive, and HLA-DR-positive. Transcription factors: BCL6-positive, Ets1-positive, IRF8-positive, MTA3-positive, OBF1-positive, PAX5-positive, SpiB-positive, and STAT3-positive. subset: human_reference_atlas synonym: "GC B cell" EXACT [] synonym: "GC B lymphocyte" EXACT [] synonym: "GC B-cell" EXACT [] synonym: "GC B-lymphocyte" EXACT [] synonym: "germinal center B lymphocyte" EXACT [] synonym: "germinal center B-cell" EXACT [] synonym: "germinal center B-lymphocyte" EXACT [] is_a: CL:0000785 ! mature B cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000845 name: marginal zone B cell of spleen def: "A mature B cell that is located in the marginal zone of the spleen with the phenotype CD23-negative and CD21-positive and expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL. This cell type is also described as being CD19-positive, B220-positive, IgM-high, AA4-negative, CD35-high." [GOC:add, GOC:dsd, http://en.wikipedia.org/wiki/Marginal-zone_B_cell, ISBN:0781735149, PMID:10933592, PMID:20933013] comment: MZ B cells are reportedly CD1-positive (mice), CD20-positive, CD48-positive, CD84-positive, CD150-positive, CD229-positive, and CD352-positive. subset: human_reference_atlas synonym: "B cell of marginal zone of spleen" EXACT [] synonym: "marginal zone B cell" BROAD [] synonym: "marginal zone B lymphocyte" BROAD [] synonym: "marginal zone B-cell" BROAD [] synonym: "marginal zone B-lymphocyte" BROAD [] synonym: "marginal zone of spleen B cell" EXACT [] synonym: "MZ B cell" BROAD [] synonym: "MZ B lymphocyte" BROAD [] synonym: "MZ B-cell" BROAD [] synonym: "MZ B-lymphocyte" BROAD [] is_a: CL:0000785 ! mature B cell is_a: CL:2000074 ! splenocyte property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000860 name: classical monocyte def: "A monocyte that responds rapidly to microbial stimuli by secreting cytokines and antimicrobial factors and which is characterized by high expression of CCR2 in both rodents and humans, negative for the lineage markers CD3, CD19, and CD20, and of larger size than non-classical monocytes." [GO_REF:0000031, GOC:add, PMID:16322748, PMID:18303997, PMID:20628149, PMID:20870168] comment: Markers: CCR2+CXCCR1 (human, mouse, rat). subset: human_reference_atlas synonym: "inflammatory monocyte" EXACT [] is_a: CL:0000576 ! monocyte property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000861 name: elicited macrophage def: "A macrophage which develops from an inflammatory monocyte and is recruited into the tissues in response to injury and infection as part of an inflammatory response. Markers include CD11b-positive, CD68-positive, and F4/80-positive." [GO_REF:0000031, GOC:add, GOC:ana, GOC:tfm, PMID:15771589] comment: Markers: CD11b+, CD68+; Mouse: F4/80+; role or process: immune, inflammation (inflammatory response). synonym: "free macrophage" EXACT [] synonym: "wandering histiocyte" EXACT [] xref: FMA:84643 xref: FMA:84645 is_a: CL:0000235 ! macrophage [Term] id: CL:0000862 name: suppressor macrophage def: "A macrophage that suppresses immune responses." [GOC:add, GOC:tfm, PMID:20402419] comment: Markers: May express: IL10, TGFbeta. is_a: CL:0000861 ! elicited macrophage [Term] id: CL:0000863 name: inflammatory macrophage def: "An elicited macrophage that is recruited into the tissues in response to injury and infection as part of an inflammatory response, expresses high levels of pro-inflammatory cytokines, ROS and NO, and shows potent microbicidal activity." [GO_REF:0000031, GOC:ana, PMID:19132917] comment: Markers: Express: TNFa, IL1b, IL6, iNOS, NADPH-oxidase; produce: reactive oxygen species, nitric oxide; role or process: immune, inflammation (inflammatory response). synonym: "classically activated macrophage" EXACT [] synonym: "M1 macrophage" RELATED [PMID:28923980] is_a: CL:0000861 ! elicited macrophage [Term] id: CL:0000864 name: tissue-resident macrophage def: "A macrophage constitutively resident in a particular tissue under non-inflammatory conditions, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells." [GO_REF:0000031, GOC:ana, PMID:19770654] synonym: "fixed macrophage" EXACT [] synonym: "resting histiocyte" EXACT [] xref: FMA:84642 xref: FMA:84644 is_a: CL:0000235 ! macrophage [Term] id: CL:0000865 name: gastrointestinal tract (lamina propria) macrophage def: "A gut-associated lymphoid tissue macrophage found in lamina propria of the gut." [GO_REF:0000031, GOC:ana, GOC:tfm, https://orcid.org/0000-0002-2825-0621] synonym: "gastrointestinal system (lamina propria) macrophage" EXACT [] synonym: "macrophage of gastrointestinal system (lamina propria)" EXACT [] synonym: "macrophage of gastrointestinal tract (lamina propria)" EXACT [] is_a: CL:0000885 ! gut-associated lymphoid tissue macrophage [Term] id: CL:0000866 name: thymic macrophage def: "A tissue-resident macrophage resident found in the thymus, involved in the clearance of apoptotic thymocytes." [GO_REF:0000031, GOC:ana, GOC:tfm, PMID:9048205] comment: Role or process: immune, clearance of apoptotic thymocytes, antigen-presentation. subset: human_reference_atlas is_a: CL:0000864 ! tissue-resident macrophage property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000867 name: secondary lymphoid organ macrophage def: "A tissue-resident macrophage found in a secondary lymphoid organ." [GO_REF:0000031, GOC:ana, GOC:tfm] is_a: CL:0000864 ! tissue-resident macrophage [Term] id: CL:0000868 name: lymph node macrophage def: "A secondary lymphoid organ macrophage found in a lymph node. This cell is CD169-high." [GO_REF:0000031, GOC:ana, GOC:tfm, PMID:11971865] comment: Marker was observed on rat cells. synonym: "MF.LN" EXACT [] is_a: CL:0000867 ! secondary lymphoid organ macrophage [Term] id: CL:0000869 name: tonsillar macrophage def: "A gut-associated lymphoid tissue macrophage found in tonsils." [GO_REF:0000031, GOC:ana, PMID:16048540] is_a: CL:0000885 ! gut-associated lymphoid tissue macrophage [Term] id: CL:0000870 name: Peyer's patch macrophage def: "A gut-associated lymphoid tissue macrophage found in the Peyer's patches." [GO_REF:0000031, GOC:ana, GOC:tfm] is_a: CL:0000885 ! gut-associated lymphoid tissue macrophage [Term] id: CL:0000871 name: splenic macrophage def: "A secondary lymphoid organ macrophage found in the spleen." [GO_REF:0000031, PMID:15771589, PMID:16322748] comment: Role or process: immune, clearance of apoptotic and senescent cells. xref: FMA:83026 is_a: CL:0000867 ! secondary lymphoid organ macrophage is_a: CL:2000074 ! splenocyte [Term] id: CL:0000872 name: splenic marginal zone macrophage def: "A splenic macrophage found in the marginal zone of the spleen, involved in recognition and clearance of particulate material from the splenic circulation. Markers include F4/80-negative, MARCO-positive, SR-A-positive, SIGN-R1-positive, and Dectin2-positive." [GO_REF:0000031, GOC:ana, PMID:16861066] comment: Markers: Mouse: F4/80-, MARCO+, SR-A+, SIGN-R1+, Dectin2+. subset: human_reference_atlas is_a: CL:0000871 ! splenic macrophage property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000873 name: splenic metallophillic macrophage def: "A splenic macrophage found in the areas surrounding the white pulp of the spleen, adjacent to the marginal sinus. Markers include F4/80-negative, Dectin2-low, sialoadhesin-positive." [GO_REF:0000031, GOC:ana, PMID:20018690] comment: Markers: Mouse: F4/80-, Dectin2-low, sialoadhesin+. is_a: CL:0000871 ! splenic macrophage [Term] id: CL:0000874 name: splenic red pulp macrophage def: "A splenic macrophage found in the red-pulp of the spleen, and involved in immune responses to blood-borne pathogens and in the clearance of senescent erythrocytes. Markers include F4/80-positive, CD68-positive, MR-positive, Dectin2-positive, macrosialin-positive, and sialoadhesin-low." [GO_REF:0000031, GOC:ana, PMID:19644016] comment: Markers: Mouse: F4/80+, CD68+, MR+, Dectin2+, macrosialin+, sialoadhesin-low; role or process: immune, clearance of senescent erythrocytes. subset: human_reference_atlas is_a: CL:0000871 ! splenic macrophage property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000875 name: non-classical monocyte def: "A type of monocyte characterized by low expression of CCR2, low responsiveness to monocyte chemoattractant CCL2/MCP1, low phagocytic activity, and decrease size relative to classical monocytes, but increased co-stimulatory activity. May also play a role in tissue repair." [GO_REF:0000031, GOC:add, PMID:16322748, PMID:18303997, PMID:20628149, PMID:20870168] comment: Markers: CCR2-CX3CCR1+ (human, mouse, rat); human: CD16+, CCR5+, CD32/FcgRII-high, MHCII+, CD86+; mouse: CD62L-Ly6C-. subset: human_reference_atlas synonym: "patrolling monocyte" EXACT [] synonym: "resident monocyte" EXACT [] is_a: CL:0000576 ! monocyte property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000876 name: splenic white pulp macrophage def: "A splenic macrophage found in the white pulp of the spleen. Markers include F4/80-negative, CD68-positive, and macrosialin-positive." [GO_REF:0000031, GOC:ana, PMID:11207597] comment: Markers: Mouse: F4/80-, CD68+, macrosialin+. subset: human_reference_atlas is_a: CL:0000871 ! splenic macrophage property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000877 name: splenic tingible body macrophage def: "A splenic white pulp macrophage found in and around the germinal centers of the white pulp of the spleen that participates in phagocytosis of apoptotic B cells from the germinal centers. A marker for a cell of this type is Mertk-positive." [GO_REF:0000031, GOC:ana, GOC:tfm, PMID:19631584] subset: human_reference_atlas is_a: CL:0000876 ! splenic white pulp macrophage property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000878 name: central nervous system macrophage def: "A tissue-resident macrophage found in the central nervous system." [GO_REF:0000031, PMID:16322748] synonym: "CNS macrophage" EXACT [] is_a: CL:0000864 ! tissue-resident macrophage is_a: CL:0002319 ! neural cell [Term] id: CL:0000879 name: meningeal macrophage def: "A central nervous system macrophage found in the meninges (the three membranes that surround the brain). This macrophage types is highly phagocytic and expresses scavenger receptors." [GO_REF:0000031, GOC:ana, PMID:11591794] is_a: CL:0000878 ! central nervous system macrophage [Term] id: CL:0000880 name: choroid-plexus macrophage def: "A central nervous system macrophage found at the interface between the blood and the cerebrospinal fluid in the brain. This cell expresses scavenger receptors." [GO_REF:0000031, GOC:ana, PMID:9550136] is_a: CL:0000878 ! central nervous system macrophage [Term] id: CL:0000881 name: perivascular macrophage def: "A central nervous system macrophage found in small blood vessels in the brain. Markers include CD14+CD16+CD163+." [GO_REF:0000031, GOC:tfm, PMID:16507898] comment: Markers: Human/monkey, mice: CD163. Human: CD14+CD16+CD163+. is_a: CL:0000878 ! central nervous system macrophage [Term] id: CL:0000882 name: thymic medullary macrophage def: "A thymic macrophage found in the thymic medulla." [GO_REF:0000031, GOC:ana, PMID:9048205] subset: human_reference_atlas is_a: CL:0000866 ! thymic macrophage property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000883 name: thymic cortical macrophage def: "A thymic macrophage found in the thymic cortex." [GO_REF:0000031, GOC:ana, GOC:tfm, PMID:9048205] subset: human_reference_atlas is_a: CL:0000866 ! thymic macrophage property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000884 name: mucosa-associated lymphoid tissue macrophage def: "A tissue-resident macrophage found in the mucosa associated lymphoid tissue." [GO_REF:0000031, GOC:ana, GOC:tfm, PMID:19906191] is_a: CL:0000867 ! secondary lymphoid organ macrophage [Term] id: CL:0000885 name: gut-associated lymphoid tissue macrophage def: "A mucosa-associated lymphoid tissue macrophage found in the mucosa-associated lymphoid tissues of the gut." [GO_REF:0000031, GOC:ana, PMID:19906191] is_a: CL:0000884 ! mucosa-associated lymphoid tissue macrophage [Term] id: CL:0000886 name: nasal and broncial associated lymphoid tissue macrophage def: "A mucosa-associated lymphoid tissue macrophage found in the nasal and bronchial mucosa-associated lymphoid tissues." [GO_REF:0000031, GOC:ana, PMID:16048540] is_a: CL:0000884 ! mucosa-associated lymphoid tissue macrophage [Term] id: CL:0000887 name: lymph node subcapsular sinus macrophage def: "A lymph node macrophage found in the subcapsular sinus of lymph nodes that participates in sensing, clearance, and antigen presentation of lymph-borne particulate antigens. This macrophage is capable of activating invaraint NKT cells and is CD169-positive." [GO_REF:0000031, GOC:tfm, PMID:14668803, PMID:17934446, PMID:20228797] subset: human_reference_atlas is_a: CL:0000868 ! lymph node macrophage property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000888 name: lymph node tingible body macrophage def: "A lymph node macrophage found in the cortex of lymph nodes, in particular in and around the germinal centers, and that participates in phagocytosis of apoptotic B cells from the germinal centers." [GO_REF:0000031, GOC:ana, GOC:tfm, PMID:19631584] subset: human_reference_atlas is_a: CL:0000868 ! lymph node macrophage property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000889 name: myeloid suppressor cell def: "An immature myeloid leukocyte of heterogeneous phenotype found particularly in cancer and sepsis patients that is capable of suppressing activity of T cells in ex vivo assays. This cell type is CD45-positive, CD11b-positive." [GO_REF:0000031, GOC:add, GOC:ana, PMID:16168663, PMID:17016554, PMID:17016559] comment: Markers: Mouse: CD11b+GR1+CD31+; Human: CD34+ CD33+CD15-CD13+. (According to some reports in humans these cells are iNOS+ARG1+IL13+IFNg+); location: In cancerous tissue; in the blood and lymphoid organs in sepsis. subset: blood_and_immune_upper_slim is_a: CL:0000766 ! myeloid leukocyte [Term] id: CL:0000890 name: alternatively activated macrophage def: "An elicited macrophage characterized by low production of pro-inflammatory and Th1 polarizing cytokines and high expression of arginase-1, and associated with tissue remodelling." [GO_REF:0000031, GOC:ana, GOC:tfm, PMID:20510870] comment: Role or process: tissue remodeling. synonym: "M2 macrophage" RELATED [PMID:28923980] is_a: CL:0000861 ! elicited macrophage [Term] id: CL:0000893 name: thymocyte def: "An immature T cell located in the thymus." [GO_REF:0000031, GOC:add, GOC:tfm, PMID:12415312] synonym: "immature T cell" BROAD [] synonym: "immature T lymphocyte" BROAD [] synonym: "immature T-cell" BROAD [] synonym: "immature T-lymphocyte" BROAD [] synonym: "thymic lymphocyte" EXACT [] xref: BTO:0001372 xref: CALOHA:TS-1042 xref: FMA:72202 xref: MESH:D060168 xref: NCIt:C12994 xref: SNOMEDCT:39105001 xref: XAO:0003159 is_a: CL:0002420 ! immature T cell [Term] id: CL:0000894 name: DN1 thymic pro-T cell def: "A pro-T cell that has the phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-negative." [GO_REF:0000031, GOC:add, GOC:tfm] synonym: "DN1 thymic pro-T lymphocyte" EXACT [] synonym: "DN1 thymic pro-T-cell" EXACT [] synonym: "DN1 thymic pro-T-lymphocyte" EXACT [] synonym: "DN1 thymic progenitor T cell" EXACT [] synonym: "DN1 thymocyte" EXACT [] synonym: "double negative 1" EXACT [] synonym: "preT.DN1.Th" EXACT [] is_a: CL:0000827 ! pro-T cell [Term] id: CL:0000895 name: naive thymus-derived CD4-positive, alpha-beta T cell def: "An antigen inexperienced CD4-positive, alpha-beta T cell with the phenotype CCR7-positive, CD127-positive and CD62L-positive. This cell type develops in the thymus. This cell type is also described as being CD25-negative, CD62L-high, and CD44-low." [GO_REF:0000031, GOC:add, GOC:tfm, http://www.immgen.org/index_content.html, PMID:19100699, PMID:22343568] comment: These cells have not been exposed to antigen following thymic T-cell selection; found in blood and secondary lymphoid organs. This cell type is compatible with the HIPC Lyoplate markers for 'naive CD4+ T cell', but includes additional markers known to be expressed on naive CD4+ T cells. subset: human_reference_atlas synonym: "naive CD4+ T cell" BROAD [PMID:22343568] synonym: "naive thymus-derived CD4-positive, alpha-beta T lymphocyte" EXACT [] synonym: "naive thymus-derived CD4-positive, alpha-beta T-cell" EXACT [] synonym: "naive thymus-derived CD4-positive, alpha-beta T-lymphocyte" EXACT [] synonym: "T.4Nve.Sp" EXACT [] synonym: "Th0" EXACT [GOC:tfm] is_a: CL:0000624 ! CD4-positive, alpha-beta T cell is_a: CL:0000898 ! naive T cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000896 name: activated CD4-positive, alpha-beta T cell def: "A recently activated CD4-positive, alpha-beta T cell with the phenotype CD69-positive, CD62L-negative, CD127-negative, and CD25-positive." [GO_REF:0000031, GOC:add, GOC:pam] synonym: "activated CD4-positive, alpha-beta T lymphocyte" EXACT [] synonym: "activated CD4-positive, alpha-beta T-cell" EXACT [] synonym: "activated CD4-positive, alpha-beta T-lymphocyte" EXACT [] is_a: CL:0000624 ! CD4-positive, alpha-beta T cell [Term] id: CL:0000897 name: CD4-positive, alpha-beta memory T cell def: "A CD4-positive, alpha-beta T cell that has differentiated into a memory T cell." [GOC:add, http://www.immgen.org/index_content.html, ISBN:0781735149] subset: human_reference_atlas synonym: "CD4-positive, alpha-beta memory T lymphocyte" EXACT [] synonym: "CD4-positive, alpha-beta memory T-cell" EXACT [] synonym: "CD4-positive, alpha-beta memory T-lymphocyte" EXACT [] synonym: "T4.Mem.Sp" RELATED [] is_a: CL:0000624 ! CD4-positive, alpha-beta T cell is_a: CL:0000813 ! memory T cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9990-8331 property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000898 name: naive T cell def: "Mature T cell not yet exposed to antigen with the phenotype CCR7-positive, CD45RA-positive, and CD127-positive. This cell type is also described as being CD25-negative, CD62L-high and CD44-low." [GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, PMID:19100699] synonym: "naive T lymphocyte" EXACT [] synonym: "naive T-cell" EXACT [] synonym: "naive T-lymphocyte" EXACT [] is_a: CL:0002419 ! mature T cell [Term] id: CL:0000899 name: T-helper 17 cell def: "CD4-positive, alpha-beta T cell with the phenotype RORgamma-t-positive, CXCR3-negative, CCR6-positive, and capable of producing IL-17." [GO_REF:0000031, GOC:add, GOC:pam, PMID:20303875, PMID:20969597, PMID:22343568] comment: This cell type is compatible with the HIPC Lyoplate markers for 'Th17 CD4+ T cell', but its logical definition includes additional known characteristics of T-helper 17 T cells. subset: human_reference_atlas synonym: "helper T cell type 17" EXACT [] synonym: "IL-17-producing CD4+ T helper" EXACT [] synonym: "T helper cells type 17" EXACT [] synonym: "T(H)-17 cell" EXACT [] synonym: "Th17 CD4+ T cell" EXACT [PMID:22343568] synonym: "Th17 cell" EXACT [] synonym: "Th17 T cell" EXACT [] synonym: "Th17 T lymphocyte" EXACT [] synonym: "Th17 T-cell" EXACT [] synonym: "Th17 T-lymphocyte" EXACT [] xref: MESH:D058504 is_a: CL:0000492 ! CD4-positive helper T cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000900 name: naive thymus-derived CD8-positive, alpha-beta T cell def: "A CD8-positive, alpha-beta T cell that has not experienced activation via antigen contact and has the phenotype CD45RA-positive, CCR7-positive and CD127-positive. This cell type is also described as being CD25-negative, CD62L-high and CD44-low." [GO_REF:0000031, GOC:add, GOC:tfm, http://www.immgen.org/index_content.html, ISBN:0781735149, PMID:22343568] comment: This cell traffics in secondary lymphoid organs and blood. This cell type is compatible with the HIPC Lyoplate markers for 'naive CD8+ T cell', but includes additional markers known to be expressed on naive CD8+ T cells. subset: human_reference_atlas synonym: "naive CD8+ T cell" BROAD [PMID:22343568] synonym: "naive thymus-dervied CD8-positive, alpha-beta T lymphocyte" EXACT [] synonym: "naive thymus-dervied CD8-positive, alpha-beta T-cell" EXACT [] synonym: "naive thymus-dervied CD8-positive, alpha-beta T-lymphocyte" EXACT [] synonym: "T.8Nve.Sp" NARROW [] is_a: CL:0000625 ! CD8-positive, alpha-beta T cell is_a: CL:0000898 ! naive T cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000901 name: Tr1 cell def: "CD4-positive alpha-beta T cell with regulatory function that produces IL-10." [GO_REF:0000031, GOC:add, GOC:pam, PMID:16903904] comment: These cells are reportedly induced by IL-10 and are capable of producing IFN-gamma, IL-5, IL-10, and TGF-beta.) synonym: "T-regulatory T cell type 1" EXACT [] synonym: "Tr1 T cell" EXACT [] synonym: "Tr1 T lymphocyte" EXACT [] synonym: "Tr1 T-cell" EXACT [] synonym: "Tr1 T-lymphocyte" EXACT [] is_a: CL:0000492 ! CD4-positive helper T cell is_a: CL:0000815 ! regulatory T cell [Term] id: CL:0000902 name: induced T-regulatory cell def: "CD4-positive alpha-beta T cell with the phenotype CD25-positive, CTLA-4-positive, and FoxP3-positive with regulatory function." [GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, PMID:19464985] synonym: "adaptive Treg" RELATED [] synonym: "aTreg" RELATED [] synonym: "induced regulatory T cell" EXACT [] synonym: "induced regulatory T lymphocyte" EXACT [] synonym: "induced regulatory T-cell" EXACT [] synonym: "induced regulatory T-lymphocyte" EXACT [] synonym: "induced Treg" EXACT [] synonym: "iTreg" EXACT [] is_a: CL:0000792 ! CD4-positive, CD25-positive, alpha-beta regulatory T cell [Term] id: CL:0000903 name: natural T-regulatory cell def: "CD4-positive alpha-beta T cell with the phenotype FoxP3-positive, CD25-positive, CD62L-positive, and CTLA-4 positive with regulatory function." [GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, PMID:19464985] synonym: "natural regulatory T cell" EXACT [] synonym: "natural regulatory T lymphocyte" EXACT [] synonym: "natural regulatory T-cell" EXACT [] synonym: "natural regulatory T-lymphocyte" EXACT [] synonym: "natural Treg" EXACT [] synonym: "nTreg" EXACT [] is_a: CL:0000792 ! CD4-positive, CD25-positive, alpha-beta regulatory T cell [Term] id: CL:0000904 name: central memory CD4-positive, alpha-beta T cell def: "CD4-positive, alpha-beta memory T cell with the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative." [GO_REF:0000031, GOC:add, GOC:pam, PMID:22343568] comment: This cell type is compatible with the HIPC Lyoplate markers for 'central memory CD4+ T cell', but includes additional markers known to be expressed on central memory CD4+ T cells. synonym: "central CD4-positive, alpha-beta memory T cell" EXACT [] synonym: "central CD4-positive, alpha-beta memory T lymphocyte" EXACT [] synonym: "central CD4-positive, alpha-beta memory T-cell" EXACT [] synonym: "central CD4-positive, alpha-beta memory T-lymphocyte" EXACT [] synonym: "central memory CD4+ T cell" BROAD [PMID:22343568] synonym: "central memory CD4-positive, alpha-beta T lymphocyte" EXACT [] synonym: "central memory CD4-positive, alpha-beta T-cell" EXACT [] synonym: "central memory CD4-positive, alpha-beta T-lymphocyte" EXACT [] is_a: CL:0000897 ! CD4-positive, alpha-beta memory T cell [Term] id: CL:0000905 name: effector memory CD4-positive, alpha-beta T cell def: "CD4-positive, alpha-beta memory T cell with the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative." [GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, PMID:22343568] comment: This cell type is compatible with the HIPC Lyoplate markers for 'effector memory CD4+ T cell', but includes additional markers known to be expressed on effector memory CD4+ T cells. subset: human_reference_atlas synonym: "effector CD4-positive, alpha-beta memory T cell" EXACT [] synonym: "effector CD4-positive, alpha-beta memory T lymphocyte" EXACT [] synonym: "effector CD4-positive, alpha-beta memory T-cell" EXACT [] synonym: "effector CD4-positive, alpha-beta memory T-lymphocyte" EXACT [] synonym: "effector memory CD4+ T cell" BROAD [PMID:22343568] synonym: "effector memory CD4-positive, alpha-beta T lymphocyte" EXACT [] synonym: "effector memory CD4-positive, alpha-beta T-cell" EXACT [] synonym: "effector memory CD4-positive, alpha-beta T-lymphocyte" EXACT [] is_a: CL:0000897 ! CD4-positive, alpha-beta memory T cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000906 name: activated CD8-positive, alpha-beta T cell def: "A CD8-positive, alpha-beta T cell with the phenotype CD69-positive, CD62L-negative, CD127-negative, CD25-positive, and CCR7-negative." [GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm] synonym: "activated CD8-positive, alpha-beta T lymphocyte" EXACT [] synonym: "activated CD8-positive, alpha-beta T-cell" EXACT [] synonym: "activated CD8-positive, alpha-beta T-lymphocyte" EXACT [] is_a: CL:0000625 ! CD8-positive, alpha-beta T cell [Term] id: CL:0000907 name: central memory CD8-positive, alpha-beta T cell def: "CD8-positive, alpha-beta memory T cell with the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative." [GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, PMID:20146720, PMID:22343568] comment: This cell type is compatible with the HIPC Lyoplate markers for 'central memory CD8+ T cell', but includes additional markers known to be expressed on central memory CD8+ T cells. synonym: "central CD8-positive, alpha-beta memory T cell" EXACT [] synonym: "central CD8-positive, alpha-beta memory T lymphocyte" EXACT [] synonym: "central CD8-positive, alpha-beta memory T-cell" EXACT [] synonym: "central CD8-positive, alpha-beta memory T-lymphocyte" EXACT [] synonym: "central memory CD8+ T cell" BROAD [PMID:22343568] synonym: "central memory CD8-positive, alpha-beta T lymphocyte" EXACT [] synonym: "central memory CD8-positive, alpha-beta T-cell" EXACT [] synonym: "central memory CD8-positive, alpha-beta T-lymphocyte" EXACT [] is_a: CL:0000909 ! CD8-positive, alpha-beta memory T cell [Term] id: CL:0000908 name: CD8-positive, alpha-beta cytokine secreting effector T cell def: "A CD8-positive, alpha-beta T cell with the phenotype CD69-positive, CD62L-negative, CD127-negative, and CD25-positive, that secretes cytokines." [GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, PMID:20146720] synonym: "CD8-positive, alpha-beta cytokine secreting effector T lymphocyte" EXACT [] synonym: "CD8-positive, alpha-beta cytokine secreting effector T-cell" EXACT [] synonym: "CD8-positive, alpha-beta cytokine secreting effector T-lymphocyte" EXACT [] is_a: CL:0000625 ! CD8-positive, alpha-beta T cell [Term] id: CL:0000909 name: CD8-positive, alpha-beta memory T cell def: "A CD8-positive, alpha-beta T cell that has differentiated into a memory T cell." [GOC:add, PMID:20146720] subset: human_reference_atlas synonym: "CD8-positive, alpha-beta memory T lymphocyte" EXACT [] synonym: "CD8-positive, alpha-beta memory T-cell" EXACT [] synonym: "CD8-positive, alpha-beta memory T-lymphocyte" EXACT [] synonym: "T.8Mem.Sp" RELATED [] is_a: CL:0000625 ! CD8-positive, alpha-beta T cell is_a: CL:0000813 ! memory T cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9990-8331 property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000910 name: cytotoxic T cell def: "A mature T cell that differentiated and acquired cytotoxic function with the phenotype perforin-positive and granzyme-B positive." [GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, PMID:18395547] subset: human_reference_atlas synonym: "cytotoxic T lymphocyte" EXACT [] synonym: "cytotoxic T-cell" EXACT [] synonym: "cytotoxic T-lymphocyte" EXACT [] xref: BTO:0000289 xref: CALOHA:TS-0190 xref: FMA:70573 is_a: CL:0000911 ! effector T cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000911 name: effector T cell def: "A differentiated T cell with ability to traffic to peripheral tissues and is capable of mounting a specific immune response." [GOC:PAM-ADD, GOC:tfm, ISBN:0877799148, PMID:18395547] synonym: "effector T lymphocyte" EXACT [] synonym: "effector T-cell" EXACT [] synonym: "effector T-lymphocyte" EXACT [] is_a: CL:0002419 ! mature T cell [Term] id: CL:0000912 name: helper T cell def: "A effector T cell that provides help in the form of secreted cytokines to other immune cells." [GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, PMID:18395547] synonym: "helper T lymphocyte" EXACT [] synonym: "helper T-cell" EXACT [] synonym: "helper T-lymphocyte" EXACT [] synonym: "T-helper cell" EXACT [] xref: BTO:0002417 xref: MESH:D006377 xref: SNOMEDCT:29594005 is_a: CL:0000911 ! effector T cell [Term] id: CL:0000913 name: effector memory CD8-positive, alpha-beta T cell def: "CD8-positive, alpha-beta memory T cell with the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative." [GO_REF:0000031, GOC:add, GOC:pam, PMID:20146720, PMID:22343568] comment: This cell type is compatible with the HIPC Lyoplate markers for 'effector memory CD8+ T cell', but includes additional markers known to be expressed on effector memory CD8+ T cells. subset: human_reference_atlas synonym: "effector CD8-positive, alpha-beta memory T cell" EXACT [] synonym: "effector CD8-positive, alpha-beta memory T lymphocyte" EXACT [] synonym: "effector CD8-positive, alpha-beta memory T-cell" EXACT [] synonym: "effector CD8-positive, alpha-beta memory T-lymphocyte" EXACT [] synonym: "effector memory CD8+ T cell" BROAD [PMID:22343568] synonym: "effector memory CD8-positive, alpha-beta T lymphocyte" EXACT [] synonym: "effector memory CD8-positive, alpha-beta T-cell" EXACT [] synonym: "effector memory CD8-positive, alpha-beta T-lymphocyte" EXACT [] is_a: CL:0000909 ! CD8-positive, alpha-beta memory T cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000914 name: immature NK T cell def: "An immature alpha-beta T-cell that express Egr2. These cells give rise to T cells expressing NK markers." [GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, PMID:17589542, PMID:19169262] subset: human_reference_atlas synonym: "immature NK T lymphocyte" EXACT [] synonym: "immature NK T-cell" EXACT [] synonym: "immature NK T-lymphocyte" EXACT [] synonym: "immature NKT cell" EXACT [] is_a: CL:0000790 ! immature alpha-beta T cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000915 name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell def: "An alpha-beta intraepithelial T cell with the phenotype CD8-alpha-alpha-positive located in the columnar epithelium of the gastrointestinal tract. These cells have a memory phenotype of CD2-negative and CD5-negative." [GO_REF:0000031, GOC:add, GOC:pam, PMID:11685222] subset: human_reference_atlas synonym: "CD8-alpha-alpha-positive, alpha-beta intraepithelial T lymphocyte" EXACT [] synonym: "CD8-alpha-alpha-positive, alpha-beta intraepithelial T-cell" EXACT [] synonym: "CD8-alpha-alpha-positive, alpha-beta intraepithelial T-lymphocyte" EXACT [] is_a: CL:0000797 ! alpha-beta intraepithelial T cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000916 name: dendritic epidermal T cell def: "A mature gamma-delta T cell located in the epidermis that regulates wound healing." [GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, PMID:11976459] comment: In mice, DETC have an invariant T cell receptor. synonym: "dendritic epidermal T lymphocyte" EXACT [] synonym: "dendritic epidermal T-cell" EXACT [] synonym: "dendritic epidermal T-lymphocyte" EXACT [] synonym: "DETC" EXACT [] is_a: CL:0000800 ! mature gamma-delta T cell [Term] id: CL:0000917 name: Tc1 cell def: "A CD8-positive, alpha-beta positive T cell that has the phenotype T-bet-positive, eomesodermin-positive, CXCR3-positive, CCR6-negative, and is capable of producing interferon-gamma." [GO_REF:0000031, GOC:add, GOC:pam, PMID:22343568, PMID:9914231] comment: This cell type is compatible with the HIPC Lyoplate markers for 'Tc1 CD8+ T cell', but its logical definition includes additional known characteristics of Tc1 T cells. synonym: "CD8-positive Th1 cell" EXACT [] synonym: "T-cytotoxic T cell type 1" EXACT [] synonym: "Tc1 CD8+ T cell" EXACT [PMID:22343568] synonym: "Tc1 T cell" EXACT [] synonym: "Tc1 T lymphocyte" EXACT [] synonym: "Tc1 T-cell" EXACT [] synonym: "Tc1 T-lymphocyte" EXACT [] synonym: "Th1 CD8-positive T cell" EXACT [] synonym: "Th1 non-TFH CD8-positive T cell" EXACT [] xref: BTO:0004793 xref: BTO:0004888 xref: FMA:84793 is_a: CL:0000908 ! CD8-positive, alpha-beta cytokine secreting effector T cell [Term] id: CL:0000918 name: Tc2 cell def: "A CD8-positive, alpha-beta positive T cell expressing GATA-3 and secreting IL-4." [GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, PMID:9914231] comment: This cell type is compatible with the HIPC Lyoplate markers for 'non-Tc1/Tc17 CD8+ T cell' (see CL:0001052), but includes the additional necessary and sufficient conditions to allow classification as a Tc2 T cell. synonym: "CD8-positive Th2 cell" EXACT [] synonym: "T-cytotoxic T cell type 2" EXACT [] synonym: "Tc2 T cell" EXACT [] synonym: "Tc2 T lymphocyte" EXACT [] synonym: "Tc2 T-cell" EXACT [] synonym: "Tc2 T-lymphocyte" EXACT [] synonym: "Th2 CD8-positive T cell" EXACT [] synonym: "Th2 non-TFH CD8-positive T cell" EXACT [] xref: BTO:0004794 xref: FMA:84794 is_a: CL:0000908 ! CD8-positive, alpha-beta cytokine secreting effector T cell [Term] id: CL:0000919 name: CD8-positive, CD25-positive, alpha-beta regulatory T cell def: "A CD8-positive alpha beta-positive T cell with the phenotype FoxP3-positive and having suppressor function." [GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, PMID:19118505] synonym: "CD8+CD25+ T cell" EXACT [] synonym: "CD8+CD25+ T lymphocyte" EXACT [] synonym: "CD8+CD25+ T(reg)" EXACT [] synonym: "CD8+CD25+ T-cell" EXACT [] synonym: "CD8+CD25+ T-lymphocyte" EXACT [] synonym: "CD8+CD25+ Treg" EXACT [] synonym: "CD8-positive, CD25-positive Treg" EXACT [] synonym: "CD8-positive, CD25-positive, alpha-beta regulatory T lymphocyte" EXACT [] synonym: "CD8-positive, CD25-positive, alpha-beta regulatory T-cell" EXACT [] synonym: "CD8-positive, CD25-positive, alpha-beta regulatory T-lymphocyte" EXACT [] is_a: CL:0000795 ! CD8-positive, alpha-beta regulatory T cell [Term] id: CL:0000920 name: CD8-positive, CD28-negative, alpha-beta regulatory T cell def: "CD8-positive, alpha-beta positive regulatory T cell with the phenotype CD28-negative and FoxP3-positive." [GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, PMID:19118505] synonym: "CD8+CD28- T cell" EXACT [] synonym: "CD8+CD28- T lymphocyte" EXACT [] synonym: "CD8+CD28- T(reg)" EXACT [] synonym: "CD8+CD28- T-cell" EXACT [] synonym: "CD8+CD28- T-lymphocyte" EXACT [] synonym: "CD8+CD28- Treg" EXACT [] synonym: "CD8-positive, CD28-negative T(reg)" EXACT [] synonym: "CD8-positive, CD28-negative Treg" EXACT [] synonym: "CD8-positive, CD28-negative, alpha-beta regulatory T lymphocyte" EXACT [] synonym: "CD8-positive, CD28-negative, alpha-beta regulatory T-cell" EXACT [] synonym: "CD8-positive, CD28-negative, alpha-beta regulatory T-lymphocyte" EXACT [] is_a: CL:0000795 ! CD8-positive, alpha-beta regulatory T cell [Term] id: CL:0000921 name: type I NK T cell def: "An alpha-beta T cell expressing NK cell markers that is CD1d restricted and expresses specific V-alpha chains. NK T cells of this type recognize the glycolipid alpha-galactosylceramide in the context of CD1d." [GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, PMID:15039760] comment: In mouse the canonical TCR is V-alpha-14, and in humans it is V-alpha 24. subset: human_reference_atlas synonym: "classical NK T cell" EXACT [] synonym: "invariant NK T cell" RELATED [] synonym: "type I NK T lymphocyte" EXACT [] synonym: "type I NK T-cell" EXACT [] synonym: "type I NK T-lymphocyte" EXACT [] synonym: "type I NKT cell" EXACT [] is_a: CL:0000814 ! mature NK T cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000922 name: type II NK T cell def: "An alpha-beta T cell expressing NK call markers that is CD1d restricted and expresses a diverse TCR repertoire. Type II NKT cells do not become activated by alpha-galactosylceramide when presented by CD1d." [GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, PMID:15039760] synonym: "type II NK T lymphocyte" EXACT [] synonym: "type II NK T-cell" EXACT [] synonym: "type II NK T-lymphocyte" EXACT [] synonym: "type II NKT cell" EXACT [] is_a: CL:0000814 ! mature NK T cell [Term] id: CL:0000923 name: CD4-positive type I NK T cell def: "A type I NK T cell that has the phenotype CD4-positive." [GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, PMID:17303398] synonym: "CD4-positive type I NK T lymphocyte" EXACT [] synonym: "CD4-positive type I NK T-cell" EXACT [] synonym: "CD4-positive type I NK T-lymphocyte" EXACT [] synonym: "CD4-positive type I NKT cell" EXACT [] synonym: "NKT.4+.SP" NARROW [] is_a: CL:0000921 ! type I NK T cell [Term] id: CL:0000924 name: CD4-negative, CD8-negative type I NK T cell def: "A type I NK T cell that has the phenotype CD4-negative and CD8-negative." [GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, PMID:18997862] synonym: "CD4-negative, CD8-negative type I NK T lymphocyte" EXACT [] synonym: "CD4-negative, CD8-negative type I NK T-cell" EXACT [] synonym: "CD4-negative, CD8-negative type I NK T-lymphocyte" EXACT [] synonym: "CD4-negative, CD8-negative type I NKT cell" EXACT [] synonym: "NKT.4-.Sp" NARROW [] is_a: CL:0000921 ! type I NK T cell [Term] id: CL:0000925 name: activated CD4-positive type I NK T cell def: "A type I NK T cell that has been recently activated, secretes interferon-gamma and IL-4, and has the phenotype CD4-positive, CD69-positive, and downregulated NK markers." [GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, PMID:17303398] synonym: "activated CD4-positive type I NK T lymphocyte" EXACT [] synonym: "activated CD4-positive type I NK T-cell" EXACT [] synonym: "activated CD4-positive type I NK T-lymphocyte" EXACT [] synonym: "activated CD4-positive type I NKT cell" EXACT [] is_a: CL:0000923 ! CD4-positive type I NK T cell [Term] id: CL:0000926 name: CD4-positive type I NK T cell secreting interferon-gamma def: "A mature NK T cell that secretes interferon-gamma and enhances type 1 immune responses." [GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, PMID:17303398] synonym: "CD4-positive type I NK T cell secreting IFN-gamma" EXACT [] synonym: "CD4-positive type I NK T lymphocyte secreting interferon-gamma" EXACT [] synonym: "CD4-positive type I NK T-cell secreting interferon-gamma" EXACT [] synonym: "CD4-positive type I NK T-lymphocyte secreting interferon-gamma" EXACT [] synonym: "CD4-positive type I NKT cell secreting interferon-gamma" EXACT [] is_a: CL:0000923 ! CD4-positive type I NK T cell [Term] id: CL:0000927 name: CD4-positive type I NK T cell secreting interleukin-4 def: "A mature NK T cell that predominantly secretes type 2 cytokines such as interleukin-4 and interleukin-13 and enhances type 2 immune responses." [GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm] synonym: "CD4-positive type I NK T cell secreting IL-4" EXACT [] synonym: "CD4-positive type I NK T lymphocyte secreting interleukin-4" EXACT [] synonym: "CD4-positive type I NK T-cell secreting interleukin-4" EXACT [] synonym: "CD4-positive type I NK T-lymphocyte secreting interleukin-4" EXACT [] synonym: "CD4-positive type I NKT cell secreting interleukin-4" EXACT [] is_a: CL:0000923 ! CD4-positive type I NK T cell [Term] id: CL:0000928 name: activated CD4-negative, CD8-negative type I NK T cell def: "A type I NK T cell that has been recently activated, secretes interferon-gamma and interleukin-4, and has phenotype CD4-negative, CD8-negative, CD69-positive, and downregulated NK markers." [GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, PMID:17303398] synonym: "activated CD4-negative, CD8-negative type I NK T lymphocyte" EXACT [] synonym: "activated CD4-negative, CD8-negative type I NK T-cell" EXACT [] synonym: "activated CD4-negative, CD8-negative type I NK T-lymphocyte" EXACT [] synonym: "activated CD4-negative, CD8-negative type I NKT cell" EXACT [] is_a: CL:0000924 ! CD4-negative, CD8-negative type I NK T cell [Term] id: CL:0000929 name: CD4-negative, CD8-negative type I NK T cell secreting interferon-gamma def: "A mature NK T cell that secretes interferon-gamma and enhances Th1 immune responses." [GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, PMID:17303398] synonym: "CD4-negative, CD8-negative type I NK T cell secreting IFN-gamma" EXACT [] synonym: "CD4-negative, CD8-negative type I NK T lymphocyte secreting interferon-gamma" EXACT [] synonym: "CD4-negative, CD8-negative type I NK T-cell secreting interferon-gamma" EXACT [] synonym: "CD4-negative, CD8-negative type I NK T-lymphocyte secreting interferon-gamma" EXACT [] synonym: "CD4-negative, CD8-negative type I NKT cell secreting interferon-gamma" EXACT [] is_a: CL:0000924 ! CD4-negative, CD8-negative type I NK T cell [Term] id: CL:0000930 name: CD4-negative, CD8-negative type I NK T cell secreting interleukin-4 def: "A mature NK T cell that secretes interleukin-4 and enhances Th2 immune responses." [GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, PMID:17303398] synonym: "CD4-negative, CD8-negative type I NK T cell secreting IL-4" EXACT [] synonym: "CD4-negative, CD8-negative type I NK T lymphocyte secreting interleukin-4" EXACT [] synonym: "CD4-negative, CD8-negative type I NK T-cell secreting interleukin-4" EXACT [] synonym: "CD4-negative, CD8-negative type I NK T-lymphocyte secreting interleukin-4" EXACT [] synonym: "CD4-negative, CD8-negative type I NKT cell secreting interleukin-4" EXACT [] is_a: CL:0000924 ! CD4-negative, CD8-negative type I NK T cell [Term] id: CL:0000931 name: activated type II NK T cell def: "A type II NK T cell that has been recently activated, secretes interferon-gamma and interleukin-4, and has the phenotype CD69-positive and downregulated NK markers." [GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, PMID:17964217] synonym: "activated type II NK T lymphocyte" EXACT [] synonym: "activated type II NK T-cell" EXACT [] synonym: "activated type II NK T-lymphocyte" EXACT [] synonym: "activated type II NKT cell" EXACT [] is_a: CL:0000922 ! type II NK T cell [Term] id: CL:0000932 name: type II NK T cell secreting interferon-gamma def: "A type II NK T cell that has been recently activated, secretes interferon-gamma, and has the phenotype CD69-positive and downregulated NK markers." [GO_REF:0000031, GOC:add, GOC:pam, PMID:17964217] synonym: "type II NK T cell secreting IFN-gamma" EXACT [] synonym: "type II NK T lymphocyte secreting interferon-gamma" EXACT [] synonym: "type II NK T-cell secreting interferon-gamma" EXACT [] synonym: "type II NK T-lymphocyte secreting interferon-gamma" EXACT [] synonym: "type II NKT cell secreting interferon-gamma" EXACT [] is_a: CL:0000922 ! type II NK T cell [Term] id: CL:0000933 name: type II NK T cell secreting interleukin-4 def: "A type II NK T cell that has been recently activated, secretes interleukin-4, and has the phenotype CD69-positive and downregulated NK markers." [GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, PMID:17964217] synonym: "type II NK T cell secreting IL-4" EXACT [] synonym: "type II NK T lymphocyte secreting interleukin-4" EXACT [] synonym: "type II NK T-cell secreting interleukin-4" EXACT [] synonym: "type II NK T-lymphocyte secreting interleukin-4" EXACT [] synonym: "type II NKT cell secreting interleukin-4" EXACT [] is_a: CL:0000922 ! type II NK T cell [Term] id: CL:0000934 name: CD4-positive, alpha-beta cytotoxic T cell def: "A CD4-positive, alpha-beta T cell that has cytotoxic function." [GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, PMID:18440213] subset: human_reference_atlas synonym: "CD4-positive, alpha-beta cytotoxic T lymphocyte" EXACT [] synonym: "CD4-positive, alpha-beta cytotoxic T-cell" EXACT [] synonym: "CD4-positive, alpha-beta cytotoxic T-lymphocyte" EXACT [] is_a: CL:0000624 ! CD4-positive, alpha-beta T cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000935 name: CD4-negative, CD8-negative, alpha-beta intraepithelial T cell def: "A CD4-negative, CD8-negative, alpha-beta intraepithelial T cell that is found in the columnar epithelium of the gastrointestinal tract." [GO_REF:0000031, GOC:add, GOC:pam, PMID:11685222] subset: human_reference_atlas synonym: "CD4-negative, CD8-negative, alpha-beta intraepithelial T lymphocyte" EXACT [] synonym: "CD4-negative, CD8-negative, alpha-beta intraepithelial T-cell" EXACT [] synonym: "CD4-negative, CD8-negative, alpha-beta intraepithelial T-lymphocyte" EXACT [] is_a: CL:0000797 ! alpha-beta intraepithelial T cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000936 name: early lymphoid progenitor def: "A lymphoid progenitor cell that is found in bone marrow, gives rise to B cells, T cells, natural killer cells and dendritic cells, and has the phenotype Lin-negative, Kit-positive, Sca-1-positive, FLT3-positive, CD34-positive, CD150 negative, and GlyA-negative." [GO_REF:0000031, GOC:add, GOC:dsd, GOC:pam, GOC:tfm, PMID:19022770] comment: Markers are associated with mouse cells. ELP transcription factors include E2A-positive, Ikaros-positive, EBF-negative, Pax5-negative, PU.1-negative. synonym: "ELP" RELATED abbreviation [] synonym: "GMLP" RELATED abbreviation [PMID:18371378] synonym: "LMPP" RELATED abbreviation [] synonym: "lymphoid-primed multipotent progenitor" EXACT [] is_a: CL:0000837 ! hematopoietic multipotent progenitor cell [Term] id: CL:0000937 name: pre-natural killer cell def: "Cell committed to natural killer cell lineage that has the phenotype CD122-positive, CD34-positive, and CD117-positive. This cell type lacks expression of natural killer receptor proteins." [GO_REF:0000031, GOC:add, GOC:dsd, GOC:pam, GOC:tfm, PMID:16551251, PMID:17100874] comment: These cells are also reportedly CD7-low, CD10-negative, CD45RA-positive, alpha-4-beta-7 integrin-high. synonym: "pre-NK cell" EXACT [] is_a: CL:0000623 ! natural killer cell [Term] id: CL:0000938 name: CD16-negative, CD56-bright natural killer cell, human def: "NK cell that has the phenotype CD56-bright, CD16-negative, and CD84-positive with the function to secrete interferon-gamma but is not cytotoxic." [GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, PMID:19796267, PMID:22343568] comment: This cell type is compatible with the HIPC Lyoplate markers for 'CD16-CD56bright NK cell'. Markers are associated with human cell types. subset: human_reference_atlas synonym: "CD16-CD56bright NK cell" EXACT [PMID:22343568] synonym: "CD16-negative, CD56-bright NK cell" EXACT [] synonym: "CD56-bright cytokine secreting natural killer cell" EXACT [] synonym: "CD56-bright cytokine secreting NK cell" EXACT [] is_a: CL:0000824 ! mature natural killer cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000939 name: CD16-positive, CD56-dim natural killer cell, human def: "A mature natural killer cell that has the phenotype CD56-low, CD16-positive and which is capable of cytotoxicity and cytokine production." [GO_REF:0000031, GOC:add, GOC:pam, PMID:19796267, PMID:22343568] comment: This cell type is compatible with the HIPC Lyoplate markers for 'CD16+CD56+ NK cell'. Markers are associated with human cell types. synonym: "CD16+CD56+ NK cell" EXACT [PMID:22343568] synonym: "CD16-positive, CD56-dim NK cell" EXACT [] synonym: "CD16-positive, CD56-low natural killer cell" EXACT [] synonym: "CD16-positive, CD56-low NK cell" EXACT [] synonym: "CD16-positive, CD56-positive natural killer cell" EXACT [] synonym: "CD16-positive, CD56-positive NK cell" EXACT [] synonym: "cytotoxic CD56-dim natural killer cell" EXACT [] synonym: "cytotoxic CD56-dim NK cell" EXACT [] is_a: CL:0000824 ! mature natural killer cell [Term] id: CL:0000940 name: mucosal invariant T cell def: "An alpha-beta T cell that is found in the lamina propria of mucosal tissues and is restricted by the MR-1 molecule." [GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, PMID:19416870] subset: human_reference_atlas synonym: "mucosal invariant T lymphocyte" EXACT [] synonym: "mucosal invariant T-cell" EXACT [] synonym: "mucosal invariant T-lymphocyte" EXACT [] is_a: CL:0000791 ! mature alpha-beta T cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000941 name: thymic conventional dendritic cell def: "A dendritic cell arising in thymus that has the phenotype CD11c-positive, CD11b-negative, and CD45RA-negative." [GO_REF:0000031, GOC:add, GOC:pam, PMID:19273629] comment: In the mouse this cell expresses CD8-alpha-alpha. is_a: CL:0000990 ! conventional dendritic cell [Term] id: CL:0000942 name: thymic plasmacytoid dendritic cell def: "A plasmacytoid dendritic cell developing in the thymus with phenotype CD11c-negative or low, CD45RA-positive, CD11b-negative, and CD123-positive." [GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, PMID:19941119] subset: human_reference_atlas is_a: CL:0000784 ! plasmacytoid dendritic cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000943 name: Be1 Cell def: "A Be cell that facilitates development of T-helper 1 (Th1) phenotype in CD4-positive T cells, and secretes high levels of interleukin-2, tumor necrosis factor-alpha and interferon-gamma." [GO_REF:0000031, GOC:dsd, GOC:msz, GOC:tfm, PMID:11101868, PMID:20224569] comment: Be1 cells are also reportedly capable of secreting IL-6, IL-10, and IL-12. They are also reportedly CD11b-negative and B220-positive. synonym: "B effector 1 cell" EXACT [PMID:11101868, PMID:20224569] synonym: "B effector cell type 1" RELATED [] is_a: CL:0000968 ! Be cell [Term] id: CL:0000944 name: Be2 cell def: "A Be cell that facilitates development of T-helper 2 (Th2) phenotype T cells, and secretes high levels of interleukin-2, interleukin-10, interleukin-4, and interleukin-6." [GO_REF:0000031, GOC:dsd, GOC:msz, GOC:tfm, PMID:11101868, PMID:20224569] comment: Be2 cells are also reportedly capable of secreting IL-13 and TNF. They are also reportedly CD11b-negative and B220-positive. synonym: "B effector 2 cell" EXACT [PMID:11101868, PMID:20224569] synonym: "B effector cell type 2" RELATED [] is_a: CL:0000968 ! Be cell [Term] id: CL:0000945 name: lymphocyte of B lineage def: "A lymphocyte of B lineage with the commitment to express an immunoglobulin complex." [GO_REF:0000031, GOC:add, GOC:rhs, GOC:tfm, ISBN:0781735149] comment: Types of B lineage lymphocytes include B cells and antibody secreting cells (plasmablasts and plasma cells). Lymphocytes of B cell lineage can be distinguished from those of T cell lineage by their lack of CD3e (as part of the T cell receptor complex). subset: human_reference_atlas is_a: CL:0000542 ! lymphocyte property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000946 name: antibody secreting cell def: "A lymphocyte of B lineage that is devoted to secreting large amounts of immunoglobulin." [GO_REF:0000031, GOC:add, GOC:tfm, ISBN:0721601464, ISBN:0781735149] is_a: CL:0000945 ! lymphocyte of B lineage [Term] id: CL:0000947 name: IgE plasma cell def: "A long lived plasma cell that secretes IgE." [GO_REF:0000031, GOC:msz, ISBN:781735149] is_a: CL:0000974 ! long lived plasma cell [Term] id: CL:0000948 name: IgE memory B cell def: "A class switched memory B cell that expresses IgE on the cell surface." [GO_REF:0000031, GOC:rhs, ISBN:0781765196] synonym: "IgE memory B lymphocyte" EXACT [] synonym: "IgE memory B-cell" EXACT [] synonym: "IgE memory B-lymphocyte" EXACT [] synonym: "memory IgE B cell" EXACT [] synonym: "memory IgE B lymphocyte" EXACT [] synonym: "memory IgE B-cell" EXACT [] synonym: "memory IgE B-lymphocyte" EXACT [] is_a: CL:0000972 ! class switched memory B cell [Term] id: CL:0000949 name: IgD plasmablast def: "A plasmablast that secretes IgD, and which occur in a small proportion of B cells in the adult." [GO_REF:0000031, GOC:msz] is_a: CL:0000980 ! plasmablast [Term] id: CL:0000950 name: IgE plasmablast def: "A plasmablast that secretes IgE." [GO_REF:0000031, GOC:msz] is_a: CL:0000980 ! plasmablast [Term] id: CL:0000951 name: IgE short lived plasma cell def: "A short lived plasma cell that secretes IgE." [GO_REF:0000031, GOC:msz, ISBN:781735149] is_a: CL:0000975 ! short lived plasma cell [Term] id: CL:0000952 name: preBCR-positive large pre-B-II cell def: "An preBRC-positive large pre-B-II cell is a large pre-B-II cell that is pre-B cell receptor-positive, composed of surrogate light chain protein (SL), which is composed of VpreB , Lambda 5/14.1, in complex with immunoglobulin mu heavy chain (IgHmu) on the cell surface." [GO_REF:0000031, GOC:rhs, GOC:tfm, PMID:9785673] is_a: CL:0000957 ! large pre-B-II cell [Term] id: CL:0000953 name: preBCR-negative large pre-B-II cell def: "A pre-BCR-negative large pre-B-II cell is a large pre-B-II cell that is pre-B cell receptor-negative, composed of surrogate light chain protein (SL), which is composed of VpreB and Lambda 5/14.1, in complex with immunoglobulin mu heavy chain (IgHmu), on the cell surface, and lack a DNA rearrangement of immunoglobulin light chain genes." [GO_REF:0000031, GOC:rhs, GOC:tfm, PMID:9785673] is_a: CL:0000957 ! large pre-B-II cell [Term] id: CL:0000954 name: small pre-B-II cell def: "A small pre-B-II cell is a pre-B-II cell that is Rag1-positive, Rag2-positive, pre-BCR-negative, and BCR-negative, is not proliferating, and carries a DNA rearrangement of one or more immunoglobulin light chain genes." [GO_REF:0000031, GOC:dsd, GOC:rhs, GOC:tfm, PMID:16551251, PMID:18432934, PMID:9785673] comment: Small pre-B-II cells are also reportedly CD10-positive, CD19-positive, CD34-negative, CD79a-positive, CD127-negative, TdT-negative, Vpre-B-negative, sIgM-negative, and sIgD-negative. Transcription factors: PU.1-positive, Ikaros-positive, E2A-positive, and PAX5-positive. synonym: "small pre-BII cell" EXACT [] is_a: CL:0000955 ! pre-B-II cell [Term] id: CL:0000955 name: pre-B-II cell def: "A pre-B-II cell is a precursor B cell that expresses immunoglobulin mu heavy chain (IgHmu+), and lack expression of CD34, TdT, immunoglobulin kappa light chain and immunoglobulin lambda light chain." [GO_REF:0000031, GOC:dsd, GOC:rhs, GOC:tfm, PMID:9785673] comment: pre-B-II cell are also reportedly CD19-positive, CD22-positive, CD38-positive, CD45-positive, and CD48-positive. synonym: "pre-B-lymphocyte" EXACT [] synonym: "pre-BII cell" EXACT [] xref: BTO:0001133 xref: CALOHA:TS-0819 is_a: CL:0000817 ! precursor B cell disjoint_from: CL:0000956 ! pre-B-I cell [Term] id: CL:0000956 name: pre-B-I cell def: "A pre-B-I cell is a precursor B cell that expresses CD34 and surrogate immunoglobulin light chain (VpreB , Lambda 5 (mouse)/14.1 (human)) on the cell surface, and TdT, Rag1,and Rag2 intracellularly. Cell type carries a D-JH DNA rearrangement, and lacks expression of immunglobulin heavy chain protein." [GO_REF:0000031, GOC:dsd, GOC:rhs, GOC:tfm, PMID:16551251, PMID:18432934, PMID:20839338, PMID:9785673] comment: Human pre-B-I cells are reportedly CD10-positive, CD19-positive, CD22-positive, CD38-positive, CD45-low, CD79a-positive, CD127-negative, pre-BCR-negative, IgM-negative, IgD-negative, and Tdt-positive. Transcription factors expressed: Pax5-positive. synonym: "pre-BI cell" EXACT [] synonym: "pro-B cell (Philadelphia nomenclature)" RELATED [PMID:11244048] is_a: CL:0000817 ! precursor B cell [Term] id: CL:0000957 name: large pre-B-II cell def: "A large pre-B-II cell is a pre-B-II cell that is proliferating and is Rag1-negative and Rag2-negative." [GO_REF:0000031, GOC:dsd, GOC:rhs, PMID:16551251, PMID:18432934, PMID:9785673] comment: Large pre-B-II cells are also reportedly CD10-positive, CD19-positive, CD34-negative, CD79a-positive, CD127-negative, TdT-negative, Vpre-B-positive, pre-BCR-positive, sIgM-negative, and sIgD-negative. Transcription factors: PU.1-positive, Ikaros-positive, E2A-positive, and PAX5-positive. synonym: "large pre-B cell" BROAD [PMID:11244048] synonym: "large pre-BII cell" EXACT [] is_a: CL:0000955 ! pre-B-II cell [Term] id: CL:0000958 name: T1 B cell def: "A transitional stage B cell that migrates from the bone marrow into the peripheral circulation, and finally to the spleen. This cell type has the phenotype surface IgM-positive, surface IgD-negative, CD21-negative, CD23-negative, and CD62L-negative, and CD93-positive. This cell type has also been described as IgM-high, CD19-positive, B220-positive, AA4-positive, and CD23-negative." [GO_REF:0000031, GOC:dsd, GOC:msz, GOC:tfm, PMCID:PMC2193793, PMID:12810111] comment: T1 B cells are also reportedly CD10-negative/positive??, CD20-positive, CD24-positive, CD38-positive, CD48-positive, CD84-positive, CD150-positive, CD244-negative, and CD352-positive. synonym: "T1 B lymphocyte" EXACT [] synonym: "T1 B-cell" EXACT [] synonym: "T1 B-lymphocyte" EXACT [] synonym: "transitional stage 1 B cell" EXACT [] is_a: CL:0000818 ! transitional stage B cell [Term] id: CL:0000959 name: T2 B cell def: "A transitional stage B cell that has the phenotype surface IgM-positive, surface IgD-postive, CD21-positive, CD23-positive, CD62L-negative, CD93-positive and is located in the splenic B follicles. This cell type has also been described as IgM-high, CD19-positive, B220-positive, AA4-positive, and CD23-positive." [GO_REF:0000031, GOC:dsd, GOC:msz, GOC:tfm, PMCID:PMC2193793, PMID:12810111] comment: T2 B cells are also reportedly CD20-positive, CD24-positive, CD38-positive, CD48-positive, CD84-positive, CD150-positive, CD244-negative, and CD352-positive. synonym: "T2 B lymphocyte" EXACT [] synonym: "T2 B-cell" EXACT [] synonym: "T2 B-lymphocyte" EXACT [] synonym: "transitional stage 2 B cell" EXACT [] is_a: CL:0000818 ! transitional stage B cell [Term] id: CL:0000960 name: T3 B cell def: "A transitional stage B cell that expresses surface IgM and IgD, and CD62L. This cell type appears to be an anergic B cell that does not proliferate upon BCR signaling, is found in the spleen and lymph nodes, and has the phenotype surface IgM-positive, surface IgD-positive, CD21-positive, CD23-positive, CD62L-positive, and CD93-positive. This cell type has also been described as IgM-low, CD19-positive, B220-positive, AA4-positive, and CD23-positive (i.e. this cell-type is distinguished from T2 cells by surface expression of IgM)." [GO_REF:0000031, GOC:msz, GOC:tfm, http://www.immgen.org/index_content.html, PMID:12810111, PMID:17174121] synonym: "An1 B cell" EXACT [PMID:17174121] synonym: "T3 B lymphocyte" EXACT [] synonym: "T3 B-cell" EXACT [] synonym: "T3 B-lymphocyte" EXACT [] synonym: "transitional stage 3 B cell" EXACT [] is_a: CL:0000818 ! transitional stage B cell [Term] id: CL:0000961 name: Bm1 B cell def: "A follicular B cell that is IgD-positive, CD23-negative, and CD38-negative. This naive cell type is activated in the extrafollicular areas through interaction with interdigitating dendritic cells and antigen-specific CD4-positive T cells." [GO_REF:0000031, GOC:dsd, GOC:msz, PMID:17992590, PMID:18432934, PMID:8006591] comment: These cells are also reportedly CD10-negative, CD39-positive, CD44-positive, CD71-negative, CD77-negative, IgM-positive, IgG-negative, IgA-negative, and IgE-negative. synonym: "Bm1 B lymphocyte" EXACT [] synonym: "Bm1 B-cell" EXACT [] synonym: "Bm1 B-lymphocyte" EXACT [] is_a: CL:0000843 ! follicular B cell is_a: CL:0002056 ! fraction F mature B cell [Term] id: CL:0000962 name: Bm2 B cell def: "A follicular B cell that is IgD-positive and CD23-positive and CD38-positive. This naive cell type is activated in the extrafollicular areas via interaction with dendritic cells and antigen specific T cells." [GO_REF:0000031, GOC:dsd, GOC:msz, PMID:17992590, PMID:18432934, PMID:8006591] comment: These cells are also CD10-negative, CD39-positive, CD44-positive, CD71-negative, CD77-negative, IgM-positive, IgG-negative, IgA-negative, and IgE-negative. synonym: "Bm2 B lymphocyte" EXACT [] synonym: "Bm2 B-cell" EXACT [] synonym: "Bm2 B-lymphocyte" EXACT [] is_a: CL:0000843 ! follicular B cell [Term] id: CL:0000963 name: Bm3-delta B cell def: "A germinal center B cell that develops from a Bm3 B cell. This cell has the phenotype IgM-negative, IgD-positive, and CD38-positive." [GO_REF:0000031, GOC:add, GOC:msz, GOC:tfm, PMID:9280752] synonym: "Bm3-delta B lymphocyte" EXACT [] synonym: "Bm3-delta B-cell" EXACT [] synonym: "Bm3-delta B-lymphocyte" EXACT [] is_a: CL:0000844 ! germinal center B cell [Term] id: CL:0000964 name: Bm2' B cell def: "A germinal center B cell that founds a germinal center, and has the phenotype IgD-positive, CD38-positive, and CD23-negative." [GO_REF:0000031, GOC:dsd, GOC:msz, GOC:tfm, PMID:17992590, PMID:18432934, PMID:8006591] comment: Bm2' B cells are also reportedly CD10-positive, CD39-negative, CD44-negative, CD71-positive, CD77-negative, IgM-positive, IgG-negative, IgA-negative, and IgE-negative. synonym: "Bm2' B lymphocyte" EXACT [] synonym: "Bm2' B-cell" EXACT [] synonym: "Bm2-prime B cell" EXACT [] synonym: "Bm2-prime B-lymphocyte" EXACT [] synonym: "germinal center founder cell" RELATED [] is_a: CL:0000844 ! germinal center B cell [Term] id: CL:0000965 name: Bm3 B cell def: "A germinal center B cell that is rapidly dividing and has the phenotype IgD-negative, CD38-positive, and CD77-positive. Somatic hypermutation of the immunoglobulin V gene region can occur during proliferation of this cell type." [GO_REF:0000031, GOC:dsd, GOC:msz, PMID:18432934, PMID:8006591] comment: Bm3 B cells are also reportedly CD10-positive, CD23-negative, CD39-negative, CD44-negative, CD71-positive, and CD77-positive. synonym: "Bm3 B lymphocyte" EXACT [] synonym: "Bm3 B-cell" EXACT [] synonym: "Bm3 B-lymphocyte" EXACT [] synonym: "centroblast" RELATED [PMID:8006591] is_a: CL:0000844 ! germinal center B cell [Term] id: CL:0000966 name: Bm4 B cell def: "A germinal center B cell that has the phenotype CD77-negative, IgD-negative, and CD38-positive. These cells have undergone somatic mutation of the B cell receptor." [GO_REF:0000031, GOC:dsd, GOC:msz, PMID:18432934, PMID:8006591] comment: Bm4 B cells are also reportedly CD10-positive, CD23-negative, CD39-negative, CD44-positive, and CD71-positive. synonym: "Bm4 B lymphocyte" EXACT [] synonym: "Bm4 B-cell" EXACT [] synonym: "Bm4 B-lymphocyte" EXACT [] synonym: "centrocyte" RELATED [PMID:17992590] is_a: CL:0000844 ! germinal center B cell [Term] id: CL:0000967 name: Bm5 B cell def: "A memory B cell arising in the germinal center that is IgD-negative and has undergone somatic mutation of the variable region of the immunoglobulin heavy and light chain genes." [GO_REF:0000031, GOC:dsd, GOC:msz, GOC:tfm, PMID:18432934, PMID:8006591] comment: Bm5 B cells are also reportedly CD10-positive, CD23-negative, CD38-negative, CD39-positive, CD44-positive, CD71-positive, and CD77-negative. synonym: "Bm5 B lymphocyte" EXACT [] synonym: "Bm5 B-cell" EXACT [] synonym: "Bm5 B-lymphocyte" EXACT [] is_a: CL:0000787 ! memory B cell [Term] id: CL:0000968 name: Be cell def: "A mature B cell that produces cytokines that can influence CD4 T cell differentiation." [GO_REF:0000031, GOC:msz, GOC:tfm, PMID:11101868, PMID:20224569] synonym: "B effector cell" EXACT [] synonym: "effector B cell" EXACT [] synonym: "effector B lymphocyte" EXACT [] synonym: "effector B-cell" EXACT [] synonym: "effector B-lymphocyte" EXACT [] is_a: CL:0000785 ! mature B cell [Term] id: CL:0000969 name: regulatory B cell def: "A mature B cell that has the phenotype CD1d-positive and expresses interleukin-10. This cell type has been associated with suppression of chronic inflammatory responses and T cell responses." [GO_REF:0000031, GOC:dsd, GOC:msz, GOC:tfm, MESH:D060151, PMID:11869683, PMID:18482568, PMID:20224569, PMID:20809522] comment: Regulatory B cells reportedly represent 1-2% of the spleen and 7-8% of the peritoneal B220-positive cells in mice. They are also found in the bone marrow, lymph node, and blood of mice. These cells are also reportedly capable of secreting IL-10 and are reportedly CD5-positive, CD21-positive, CD24-positive, CD93-negative, B220-positive, IgM-positive, and IgD-positive. synonym: "B(reg)" EXACT [] synonym: "B10 cell" EXACT [] synonym: "Breg" EXACT [] synonym: "regulatory B lymphocyte" EXACT [] synonym: "regulatory B-cell" EXACT [] synonym: "regulatory B-lymphocyte" EXACT [] xref: NCIt:C113502 is_a: CL:0000785 ! mature B cell [Term] id: CL:0000970 name: unswitched memory B cell def: "An unswitched memory B cell is a memory B cell that has the phenotype IgM-positive, IgD-positive, CD27-positive, CD138-negative, IgG-negative, IgE-negative, and IgA-negative." [GO_REF:0000031, GOC:add, GOC:dsd, GOC:rhs, ISBN:0781765196, PMID:20933013, PMID:22343568] comment: This cell type is compatible with the HIPC Lyoplate markers for 'IgD+ memory B cell'. Per DSD: Unswitched memory B cells are also reportedly CD48-positive, CD84-positive, CD229-positive, and CD352-positive. subset: human_reference_atlas synonym: "IgD+ memory B cell" BROAD [PMID:22343568] synonym: "non-class-switched memory B cell" EXACT [HP:0032126] synonym: "unswitched memory B lymphocyte" EXACT [] synonym: "unswitched memory B-cell" EXACT [] synonym: "unswitched memory B-lymphocyte" EXACT [] is_a: CL:0000787 ! memory B cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000971 name: IgM memory B cell def: "An IgM memory B cell is an unswitched memory B cell with the phenotype IgM-positive and IgD-negative." [GO_REF:0000031, GOC:dsd, GOC:rhs, ISBN:0781765196, PMID:19447676] comment: IgM memory B cells are also reportedly CD1c-positive, CD95-positive, CD80-positive, CD84-positive, CD86-positive, CD150-negative, CD229-positive, CD289-positive, and CD290-positive. Transcription factors: Notch2-positive, PAX5-positive, SpiB-positive, Ets1-positive, and OBF1-positive. synonym: "IgM memory B lymphocyte" EXACT [] synonym: "IgM memory B-cell" EXACT [] synonym: "IgM memory B-lymphocyte" EXACT [] synonym: "memory IgM B cell" EXACT [] synonym: "memory IgM B lymphocyte" EXACT [] synonym: "memory IgM B-cell" EXACT [] synonym: "memory IgM B-lymphocyte" EXACT [] is_a: CL:0000787 ! memory B cell [Term] id: CL:0000972 name: class switched memory B cell def: "A class switched memory B cell is a memory B cell that has undergone Ig class switching and therefore is IgM-negative on the cell surface. These cells are CD27-positive and have either IgG, IgE, or IgA on the cell surface." [GO_REF:0000031, GOC:add, GOC:dsd, GOC:rhs, ISBN:0781765196, PMID:20933013, PMID:9295047] comment: Per DSD: Class switched memory B cells are also reportedly CD48-positive, CD229-positive, and CD352-positive. subset: human_reference_atlas synonym: "class switched memory B lymphocyte" EXACT [] synonym: "class switched memory B-cell" EXACT [] synonym: "class switched memory B-lymphocyte" EXACT [] is_a: CL:0000787 ! memory B cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000973 name: IgA memory B cell def: "A class switched memory B cell that expresses IgA." [GO_REF:0000031, GOC:dsd, GOC:msz, ISBN:0781765196] comment: IgA memory B cell are also reportedly RORalpha-positive. synonym: "IgA memory B lymphocyte" EXACT [] synonym: "IgA memory B-cell" EXACT [] synonym: "IgA memory B-lymphocyte" EXACT [] synonym: "memory IgA B cell" EXACT [] synonym: "memory IgA B lymphocyte" EXACT [] synonym: "memory IgA B-cell" EXACT [] synonym: "memory IgA B-lymphocyte" EXACT [] is_a: CL:0000972 ! class switched memory B cell [Term] id: CL:0000974 name: long lived plasma cell def: "A fully differentiated plasma cell that lives for years, as opposed to months, secretes immunoglobulin, and has the phenotype weakly CD19-positive, CD20-negative, CD38-negative, strongly CD138-positive, MHC Class II-negative, surface immunoglobulin-negative, IgD-negative, and strongly CXCR4-positive. The majority of these cells of this type reside in the bone marrow." [GO_REF:0000031, GOC:msz, GOC:tfm, ISBN:9780781765190, PMID:16014527] is_a: CL:0000786 ! plasma cell [Term] id: CL:0000975 name: short lived plasma cell def: "A fully differentiated plasma cell that lives for months." [GO_REF:0000031, GOC:msz, PMID:16014527] is_a: CL:0000786 ! plasma cell [Term] id: CL:0000976 name: IgA short lived plasma cell def: "A short lived plasma cell that secretes IgA. These cells may be found in the bone marrow as well as in the mucosal immune system." [GO_REF:0000031, GOC:msz, ISBN:781735149] is_a: CL:0000975 ! short lived plasma cell [Term] id: CL:0000977 name: IgG short lived plasma cell def: "A short lived plasma cell that secretes IgG." [GO_REF:0000031, GOC:msz, ISBN:781735149] is_a: CL:0000975 ! short lived plasma cell [Term] id: CL:0000978 name: IgM short lived plasma cell def: "A short lived plasma cell that secretes IgM." [GO_REF:0000031, GOC:msz, ISBN:781735149] is_a: CL:0000975 ! short lived plasma cell [Term] id: CL:0000979 name: IgG memory B cell def: "An IgG memory B cell is a class switched memory B cell that is class switched and expresses IgG on the cell surface." [GO_REF:0000031, GOC:rhs, ISBN:0781765196] synonym: "IgG memory B lymphocyte" EXACT [] synonym: "IgG memory B-cell" EXACT [] synonym: "IgG memory B-lymphocyte" EXACT [] synonym: "memory IgG B cell" EXACT [] synonym: "memory IgG B lymphocyte" EXACT [] synonym: "memory IgG B-cell" EXACT [] synonym: "memory IgG B-lymphocyte" EXACT [] is_a: CL:0000972 ! class switched memory B cell [Term] id: CL:0000980 name: plasmablast def: "An activated mature (naive or memory) B cell that is secreting immunoglobulin, typified by being CD27-positive, CD38-positive, CD138-negative." [GO_REF:0000031, GOC:dsd, GOC:msz, GOC:tfm, PMCID:PMC2673126] comment: This cell type is compatible with the HIPC Lyoplate markers for 'plasmablast'. Plasmablasts are also reportedly CD48-positive, CD63-positive, CD229-positive, CD270-positive, CD319-positive, CD352-positive, CD361-positive, and IgD-negative. subset: human_reference_atlas synonym: "CD20-negative B cell" BROAD [] synonym: "CD27-positive, CD38-positive, CD20-negative B cell" EXACT [] xref: FMA:84371 xref: NCIt:C37082 xref: SNOMEDCT:2579009 is_a: CL:0000785 ! mature B cell is_a: CL:0000946 ! antibody secreting cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000981 name: double negative memory B cell def: "A memory B cell with the phenotype IgD-negative and CD27-negative." [GO_REF:0000031, GOC:msz, GOC:tfm] synonym: "dn memory B cell" EXACT [] synonym: "dn memory B lymphocyte" EXACT [] synonym: "dn memory B-cell" EXACT [] synonym: "dn memory B-lymphocyte" EXACT [] synonym: "double negative memory B lymphocyte" EXACT [] synonym: "double negative memory B-cell" EXACT [] synonym: "double negative memory B-lymphocyte" EXACT [] is_a: CL:0000787 ! memory B cell [Term] id: CL:0000982 name: IgG plasmablast def: "A plasmablast that secretes IgG." [GO_REF:0000031, GOC:msz] is_a: CL:0000980 ! plasmablast [Term] id: CL:0000983 name: IgM plasmablast def: "A plasmablast that secretes IgM." [GO_REF:0000031, GOC:msz] is_a: CL:0000980 ! plasmablast [Term] id: CL:0000984 name: IgA plasmablast def: "A plasmablast that secretes IgA." [GO_REF:0000031, GOC:msz] is_a: CL:0000980 ! plasmablast [Term] id: CL:0000985 name: IgG plasma cell def: "A fully differentiated plasma cell that secretes IgG." [GO_REF:0000031, GOC:msz, ISBN:781735149] is_a: CL:0000974 ! long lived plasma cell [Term] id: CL:0000986 name: IgM plasma cell def: "A fully differentiated plasma cell that secretes IgM." [GO_REF:0000031, GOC:msz, ISBN:781735149] is_a: CL:0000974 ! long lived plasma cell [Term] id: CL:0000987 name: IgA plasma cell def: "A fully differentiated plasma cell that secretes IgA." [GO_REF:0000031, GOC:msz, ISBN:781735149] is_a: CL:0000974 ! long lived plasma cell [Term] id: CL:0000988 name: hematopoietic cell def: "A cell of a hematopoietic lineage." [GO_REF:0000031, GOC:add] synonym: "haematopoietic cell" EXACT [] synonym: "haemopoietic cell" EXACT [] synonym: "hemopoietic cell" EXACT [] xref: BTO:0000574 xref: CALOHA:TS-2017 xref: FMA:70366 xref: FMA:83598 is_a: CL:0000000 ! cell is_a: EFO:0000324 ! cell type intersection_of: EFO:0000324 ! cell type intersection_of: located_in UBERON:0002390 ! hematopoietic system [Term] id: CL:0000989 name: CD11c-low plasmacytoid dendritic cell def: "CD11c-low plasmacytoid dendritic cell is a leukocyte that is CD11c-low, CD45R-positive, GR1-positive and CD11b-negative." [GO_REF:0000031, GOC:amm, GOC:dsd, PMID:15771572, PMID:17850486] comment: Originally described in the dendritic cell ontology (DC_CL:0000001)(PMID:19243617). These cells are CD281-positive (TLR1), CD282-positive (TLR2), CD285-positive (TLR5), CD286-positive (TLR6), and CD288-positive (TLR8). is_a: CL:0000784 ! plasmacytoid dendritic cell [Term] id: CL:0000990 name: conventional dendritic cell def: "Conventional dendritic cell is a dendritic cell that is CD11c-high." [GO_REF:0000031, GOC:amm, PMID:17850486] comment: Originally described in the dendritic cell ontology (DC_CL:0000003)(PMID:19243617) These cells are also CD20-negative, MHCII-positive. subset: blood_and_immune_upper_slim subset: human_reference_atlas synonym: "cDC" EXACT [] synonym: "DC1" EXACT [] synonym: "dendritic reticular cell" EXACT [] synonym: "interdigitating cell" BROAD [] synonym: "type 1 DC" EXACT [] synonym: "veiled cell" BROAD [] xref: FMA:84191 is_a: CL:0000451 ! dendritic cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0000991 name: CD11c-negative plasmacytoid dendritic cell def: "CD11c-negative plasmacytoid dendritic cell is a leukocyte is CD11c-negative, CD45RA-positive, CD85g-positive(ILT7), CD123-positive, CD303-positive." [GO_REF:0000031, GOC:amm, PMID:15771572, PMID:17850486] comment: Originally described in the dendritic cell ontology (DC_CL:0000004)(PMID:19243617). These cells are CD281-positive (TLR1), CD286-positive (TLR6), and CD290-positive (TLR10). synonym: "CD303-positive dendritic cell" EXACT [] is_a: CL:0000784 ! plasmacytoid dendritic cell [Term] id: CL:0000992 name: immature CD11c-low plasmacytoid dendritic cell def: "Immature CD11c-low plasmacytoid dendritic cell is a CD11c-low plasmacytoid dendritic cell that is CD80-low and CD86-low." [GO_REF:0000031, GOC:amm, PMID:15771572, PMID:17850486] comment: Originally described in the dendritic cell ontology (DC_CL:0000006)(PMID:19243617). is_a: CL:0000766 ! myeloid leukocyte is_a: CL:0000989 ! CD11c-low plasmacytoid dendritic cell [Term] id: CL:0000993 name: mature CD11c-low plasmacytoid dendritic cell def: "Mature CD11c-low plasmacytoid dendritic cell is a CD11c-low plasmacytoid dendritic cell that is CD83-high and is CD80-positive, CD86-positive, and MHCII-positive." [GO_REF:0000031, GOC:amm, PMID:15771572, PMID:17850486] comment: Originally described in the dendritic cell ontology (DC_CL:0000007)(PMID:19243617). is_a: CL:0000766 ! myeloid leukocyte is_a: CL:0000989 ! CD11c-low plasmacytoid dendritic cell [Term] id: CL:0000994 name: immature CD11c-negative plasmacytoid dendritic cell def: "Immature CD11c-negative plasmacytoid dendritic cell is a CD11c-negative plasmacytoid dendritic cell is CD80-negative, CD86-low and MHCII-low." [GO_REF:0000031, GOC:amm, PMID:15771572, PMID:17850486] comment: Originally described in the dendritic cell ontology (DC_CL:0000008)(PMID:19243617). is_a: CL:0000991 ! CD11c-negative plasmacytoid dendritic cell [Term] id: CL:0000995 name: CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor comment: Originally described in the dendritic cell ontology (DC_CL:1100000)(PMID:19243617). synonym: "CD71-positive common myeloid precursor OR CD7-negative lymphoid precursor OR CD7-positive lymphoid" BROAD [] is_a: CL:0002032 ! hematopoietic oligopotent progenitor cell union_of: CL:0001021 ! CD34-positive, CD38-positive common lymphoid progenitor union_of: CL:0001026 ! CD34-positive, CD38-positive common myeloid progenitor [Term] id: CL:0000996 name: mature CD11c-negative plasmacytoid dendritic cell def: "Mature CD11c-negative plasmacytoid dendritic cell is a CD11c-negative plasmacytoid dendritic cell is CD80-high, CD86-high, MHCII-high and is CD83-positive." [GO_REF:0000031, GOC:amm, PMID:15771572, PMID:17850486] comment: Originally described in the dendritic cell ontology (DC_CL:0000009)(PMID:19243617). is_a: CL:0000991 ! CD11c-negative plasmacytoid dendritic cell [Term] id: CL:0000997 name: immature CD8_alpha-negative CD11b-positive dendritic cell def: "Immature CD8_alpha-negative CD11b-positive dendritic cell is a CD8_alpha-negative CD11b-positive dendritic cell that is CD80-low, CD86-low, and MHCII-low." [GO_REF:0000031, GOC:amm, GOC:tfm, PMCID:PMC2346585] comment: Originally described in the dendritic cell ontology (DC_CL:0000010)(PMID:19243617). is_a: CL:0000840 ! immature conventional dendritic cell is_a: CL:0000999 ! CD4-positive CD11b-positive dendritic cell [Term] id: CL:0000998 name: CD8_alpha-negative CD11b-negative dendritic cell def: "CD8_alpha-negative CD11b-negative dendritic cell is a conventional dendritic cell that is CD11b-negative, CD4-negative CD8_alpha-negative and is CD205-positive. This cell is able to cross- present antigen to CD8-alpha-positive T cells." [GO_REF:0000031, GOC:amm, http://www.immgen.org/index_content.html, PMCID:PMC2346585] comment: These markers are associated with mouse cells. Originally described in the dendritic cell ontology (DC_CL:0000011)(PMID:19243617). synonym: "DC.8-4-11b-" EXACT [] synonym: "triple negative dendritic cell" EXACT [] is_a: CL:0000766 ! myeloid leukocyte is_a: CL:0000990 ! conventional dendritic cell [Term] id: CL:0000999 name: CD4-positive CD11b-positive dendritic cell def: "CD8_alpha-negative CD11b-positive dendritic cell is a conventional dendritic cell that is CD11b-positive, CD4-positive and is CD205-negative and CD8_alpha-negative." [GO_REF:0000031, GOC:amm, GOC:tfm, PMCID:PMC2346585] comment: Defined as having a disposition to secreting anti-inflammatory cytokines. These markers are associated with mouse cells. Originally described in the dendritic cell ontology (DC_CL:0000012)(PMID:19243617). synonym: "DC.4+" EXACT [] is_a: CL:0000766 ! myeloid leukocyte is_a: CL:0002465 ! CD11b-positive dendritic cell [Term] id: CL:0001000 name: CD8_alpha-positive CD11b-negative dendritic cell def: "CD8_alpha-positive CD11b-negative dendritic cell is a conventional dendritic cell that is CD11b-negative, CD4-negative and is CD205-positive and CD8_alpha-positive." [GO_REF:0000031, GOC:amm, GOC:tfm, PMCID:PMC2346585] comment: Cells are defined as having a disposition to secreting inflammatory cytokines. Originally described in the dendritic cell ontology (DC_CL:0000013)(PMID:19243617). synonym: "DC.8+" EXACT [] is_a: CL:0000766 ! myeloid leukocyte is_a: CL:0000990 ! conventional dendritic cell [Term] id: CL:0001001 name: immature CD8_alpha-negative CD11b-negative dendritic cell def: "Immature CD8_alpha-negative CD11b-negative dendritic cell is a CD8_alpha-negative CD11b-negative dendritic cell that is CD80-low, CD86-low, and MHCII-low." [GO_REF:0000031, GOC:amm, PMCID:PMC2346585] comment: These markers are associated with mouse cells. Originally described in the dendritic cell ontology (DC_CL:0000014)(PMID:19243617). is_a: CL:0000840 ! immature conventional dendritic cell is_a: CL:0000998 ! CD8_alpha-negative CD11b-negative dendritic cell [Term] id: CL:0001002 name: mature CD8_alpha-negative CD11b-negative dendritic cell def: "Mature CD8_alpha-negative CD11b-negative dendritic cell is a CD8_alpha-negative CD11b-negative dendritic cell that is CD80-high, CD86-high, MHCII-high and is CD83-positive." [GO_REF:0000031, GOC:amm, GOC:tfm, PMCID:PMC2346585] comment: These markers are associated with mouse cells. Defined as having a disposition to secretion of anti-inflammatory cytokines. Originally described in the dendritic cell ontology (DC_CL:0000015)(PMID:19243617). is_a: CL:0000841 ! mature conventional dendritic cell is_a: CL:0000998 ! CD8_alpha-negative CD11b-negative dendritic cell [Term] id: CL:0001003 name: mature CD8_alpha-negative CD11b-positive dendritic cell def: "Mature CD8_alpha-negative CD11b-positive dendritic cell is a CD8_alpha-negative CD11b-positive dendritic cell that is CD80-high, CD86-high, MHCII-high and is CD83-positive." [GO_REF:0000031, GOC:amm, GOC:tfm, PMCID:PMC2346585] comment: Originally described in the dendritic cell ontology (DC_CL:0000016)(PMID:19243617). is_a: CL:0000841 ! mature conventional dendritic cell is_a: CL:0000999 ! CD4-positive CD11b-positive dendritic cell [Term] id: CL:0001004 name: immature CD8_alpha-positive CD11b-negative dendritic cell def: "Immature CD8_alpha-positive CD11b-negative dendritic cell is a CD8_alpha-positive CD11b-negative dendritic cell that is CD80-low, CD86-low, and MHCII-low." [GO_REF:0000031, GOC:amm, GOC:tfm, PMCID:PMC2346585] comment: Originally described in the dendritic cell ontology (DC_CL:0000017)(PMID:19243617). is_a: CL:0000840 ! immature conventional dendritic cell is_a: CL:0001000 ! CD8_alpha-positive CD11b-negative dendritic cell [Term] id: CL:0001005 name: mature CD8_alpha-positive CD11b-negative dendritic cell def: "Mature CD8_alpha-positive CD11b-negative dendritic cell is a CD8_alpha-positive CD11b-negative dendritic cell that is CD80-high, CD86-high, MHCII-high and is CD83-positive." [GO_REF:0000031, GOC:amm, PMCID:PMC2346585] comment: Originally described in the dendritic cell ontology (DC_CL:0000018)(PMID:19243617). is_a: CL:0000841 ! mature conventional dendritic cell is_a: CL:0001000 ! CD8_alpha-positive CD11b-negative dendritic cell [Term] id: CL:0001006 name: dermal dendritic cell def: "Dermal dendritic cell is a conventional dendritic cell that is CD11b-positive, CD205-positive and CD8 alpha-negative." [GO_REF:0000031, GOC:amm, PMCID:PMC2346585] comment: Originally described in the dendritic cell ontology (DC_CL:0000019)(PMID:19243617). These cells are also CD281-positive (TLR1), CD282-positive (TLR2), CD283-positive (TLR3), CD284-positive (TLR4), CD285-positive (TLR5), CD288-positive (TLR8), and CD289-positive (TLR9). subset: human_reference_atlas xref: BTO:0004812 is_a: CL:0002465 ! CD11b-positive dendritic cell property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0001007 name: interstitial dendritic cell def: "Interstitial dendritic cell is a conventional dendritic cell that is CD11b-positive, CD1a-positive, CD206-positive, CD209-positive, and CD36-positive." [GO_REF:0000031, GOC:amm, PMID:17850486] comment: Originally described in the dendritic cell ontology (DC_CL:0000020)(PMID:19243617). These cells are also CD281-positive (TLR1), CD282-positive (TLR2), CD283-positive (TLR3), CD284-positive (TLR4), CD286-positive (TLR6), CD288-positive (TLR8), and CD290-positive (TLR10). is_a: CL:0002465 ! CD11b-positive dendritic cell [Term] id: CL:0001008 name: Kit and Sca1-positive hematopoietic stem cell def: "A hematopoietic stem cell that has plasma membrane part Kit-positive, SCA-1-positive, CD150-positive and CD34-negative." [GO_REF:0000031, GOC:add, GOC:amm, GOC:tfm, PMID:17952047, PMID:19022770] comment: Cell markers are associated with mouse hematopoietic stem cell. Originally described in the dendritic cell ontology (DC_CL:0000043)(PMID:19243617). synonym: "LSK stem cell" EXACT [] synonym: "Sca1-positive hematopoietic stem cell" EXACT [] is_a: CL:0000037 ! hematopoietic stem cell disjoint_from: CL:0001024 ! CD34-positive, CD38-negative hematopoietic stem cell [Term] id: CL:0001009 name: immature dermal dendritic cell def: "Immature dermal dendritic cell is a dermal dendritic cell that is CD80-low, CD86-low, and MHCII-low." [GO_REF:0000031, GOC:amm, PMCID:PMC2346585] comment: Originally described in the dendritic cell ontology (DC_CL:0000022)(PMID:19243617). is_a: CL:0000840 ! immature conventional dendritic cell is_a: CL:0001006 ! dermal dendritic cell [Term] id: CL:0001010 name: mature dermal dendritic cell def: "Mature dermal dendritic cell is a dermal dendritic cell that is CD80-high, CD86-high, MHCII-high and is CD83-positive." [GO_REF:0000031, GOC:amm, PMCID:PMC2346585] comment: Originally described in the dendritic cell ontology (DC_CL:0000023)(PMID:19243617). is_a: CL:0000841 ! mature conventional dendritic cell is_a: CL:0001006 ! dermal dendritic cell [Term] id: CL:0001011 name: immature interstitial dendritic cell def: "Immature interstitial dendritic cell is a interstitial dendritic cell that is CD80-low, CD86-low, and MHCII-low." [GO_REF:0000031, GOC:amm, GOC:tfm, PMID:17850486] comment: Originally described in the dendritic cell ontology (DC_CL:0000024)(PMID:19243617). is_a: CL:0000840 ! immature conventional dendritic cell is_a: CL:0001007 ! interstitial dendritic cell [Term] id: CL:0001012 name: CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor comment: Originally described in the dendritic cell ontology (DC_CL:1110000)(PMID:19243617). is_a: CL:0002032 ! hematopoietic oligopotent progenitor cell union_of: CL:0000557 ! granulocyte monocyte progenitor cell union_of: CL:0001027 ! CD7-negative lymphoid progenitor cell [Term] id: CL:0001013 name: mature interstitial dendritic cell def: "Mature interstitial dendritic cell is a interstitial dendritic cell that is CD80-high, CD86-high, MHCII-high and is CD83-positive." [GO_REF:0000031, GOC:amm, GOC:tfm, PMID:17850486] comment: Originally described in the dendritic cell ontology (DC_CL:0000025)(PMID:19243617). is_a: CL:0000841 ! mature conventional dendritic cell is_a: CL:0001007 ! interstitial dendritic cell [Term] id: CL:0001014 name: CD1a-positive Langerhans cell def: "CD1a-positive Langerhans cell is a Langerhans_cell that is CD1a-positive and CD324-positive." [GO_REF:0000031, GOC:amm, PMID:17850486] comment: These markers are associated with human cells. Originally described in the dendritic cell ontology (DC_CL:0000026)(PMID:19243617). These cells are also CD281-positive (TLR1), CD282-positive (TLR2), CD284-positive (TLR4), CD286-positive (TLR6), CD287-positive (TLR7), and CD290-positive (TLR10). When activated, these cells are capable of producing IL-6, IL-8, and IL-15. synonym: "CD1a-LC" EXACT [] is_a: CL:0000453 ! Langerhans cell [Term] id: CL:0001015 name: CD8_alpha-low Langerhans cell def: "CD8_alpha-low Langerhans cell is a Langerhans cell that is CD205-high and is CD8_alpha-low." [GO_REF:0000031, GOC:amm, PMCID:PMC2346585] comment: These markers are associated with mouse cells. Originally described in the dendritic cell ontology (DC_CL:0000027)(PMID:19243617). They are also CD205-high, CD281-positive (TLR1), CD282-positive (TLR2), CD283-positive (TLR3), CD285-positive (TLR5), CD286-positive (TLR6), and CD289-positive (TLR9). is_a: CL:0000453 ! Langerhans cell [Term] id: CL:0001016 name: immature CD1a-positive Langerhans cell def: "Immature CD1a-positive Langerhans cell is a CD1a-positive Langerhans cell that is CD80-low, CD86-low, and MHCII-low." [GO_REF:0000031, GOC:amm, GOC:tfm, PMID:17850486] comment: Originally described in the dendritic cell ontology (DC_CL:0000028)(PMID:19243617). is_a: CL:0000840 ! immature conventional dendritic cell is_a: CL:0001014 ! CD1a-positive Langerhans cell [Term] id: CL:0001017 name: mature CD1a-positive Langerhans cell def: "Mature CD1a-positive Langerhans cell is a CD1a-positive Langerhans cell that is CD80-high, CD86-high, MHCII-high and is CD83-positive." [GO_REF:0000031, GOC:amm, GOC:tfm, PMID:17850486] comment: Originally described in the dendritic cell ontology (DC_CL:0000029)(PMID:19243617). When activated, these cells produce IL-6, IL-8, and IL-15. is_a: CL:0000841 ! mature conventional dendritic cell is_a: CL:0001014 ! CD1a-positive Langerhans cell [Term] id: CL:0001018 name: immature CD8_alpha-low Langerhans cell def: "Immature CD8_alpha-low Langerhans cell is a CD8_alpha-low Langerhans cell that is CD80-low, CD86-low, and MHCII-low." [GO_REF:0000031, GOC:amm, GOC:tfm, PMCID:PMC2346585] comment: These markers are associated with mouse cells. Originally described in the dendritic cell ontology (DC_CL:0000030)(PMID:19243617). is_a: CL:0000840 ! immature conventional dendritic cell is_a: CL:0001015 ! CD8_alpha-low Langerhans cell [Term] id: CL:0001019 name: CD115-positive monocyte OR common dendritic progenitor comment: Originally described in the dendritic cell ontology (DC_CL:1111000)(PMID:19243617). is_a: CL:0000763 ! myeloid cell is_a: CL:0002031 ! hematopoietic lineage restricted progenitor cell union_of: CL:0001022 ! CD115-positive monocyte union_of: CL:0001029 ! common dendritic progenitor [Term] id: CL:0001020 name: mature CD8_alpha-low Langerhans cell def: "Mature CD8_alpha-low Langerhans cell is a CD8_alpha-low Langerhans cell that that is CD80-high, CD86-high, MHCII-high and is CD83-positive." [GO_REF:0000031, GOC:amm, PMCID:PMC2346585] comment: These markers are associated with mouse cells. Originally described in the dendritic cell ontology (DC_CL:0000031)(PMID:19243617). is_a: CL:0000841 ! mature conventional dendritic cell is_a: CL:0001015 ! CD8_alpha-low Langerhans cell [Term] id: CL:0001021 name: CD34-positive, CD38-positive common lymphoid progenitor def: "A common lymphoid progenitor that is CD10-positive, CD45RA-positive, CD34-positive and CD38-positive." [GO_REF:0000031, GOC:add, GOC:amm, GOC:tfm, PMCID:PMC2346585, PMID:19022770] comment: These markers are associated with human common lymphoid progenitors. Originally described in the dendritic cell ontology (DC_CL:0000032)(PMID:19243617). synonym: "CD10-positive common lymphocyte precursor" EXACT [] synonym: "CD10-positive common lymphocyte progenitor" EXACT [] synonym: "CD10-positive common lymphoid precursor" EXACT [] is_a: CL:0000051 ! common lymphoid progenitor is_a: CL:0000995 ! CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor disjoint_from: CL:0001025 ! Kit-positive, Sca1-positive common lymphoid progenitor [Term] id: CL:0001022 name: CD115-positive monocyte def: "CD115-positive monocyte is a monocyte that is CD115-positive and CD11b-positive." [GO_REF:0000031, GOC:add, GOC:amm, PMID:17952047] comment: These markers are associated with human cells. Originally described in the dendritic cell ontology (DC_CL:0000033)(PMID:19243617). is_a: CL:0000576 ! monocyte is_a: CL:0000839 ! myeloid lineage restricted progenitor cell is_a: CL:0001019 ! CD115-positive monocyte OR common dendritic progenitor [Term] id: CL:0001023 name: Kit-positive, CD34-positive common myeloid progenitor def: "A common myeloid progenitor that is Kit-positive and CD34-positive, Il7ra-negative, and is SCA1-low and Fcgr2-low and Fcgr3-low." [GO_REF:0000031, GOC:add, GOC:amm, GOC:tfm, http://www.immgen.org/index_content.html, PMID:1261582, PMID:17952047] comment: Markers are associated with mouse cells. Originally described in the dendritic cell ontology (DC_CL:0000034)(PMID:19243617). synonym: "CD117-positive common myeloid precursor" BROAD [] is_a: CL:0000049 ! common myeloid progenitor is_a: CL:0001030 ! CD117-positive common myeloid progenitor OR CD217-positive common lymphoid progenitor disjoint_from: CL:0001026 ! CD34-positive, CD38-positive common myeloid progenitor [Term] id: CL:0001024 name: CD34-positive, CD38-negative hematopoietic stem cell def: "CD133-positive hematopoietic stem cell is a hematopoietic stem cell that is CD34-positive, CD90-positive, and CD133-positive." [GO_REF:0000031, GOC:add, GOC:amm, GOC:tfm, PMID:10430905, PMID:11750107, PMID:16551251, PMID:20024907, PMID:9389721] comment: Cell markers are associated with human hematopoietic stem cells. Originally described in the dendritic cell ontology (DC_CL:0000035)(PMID:19243617). synonym: "CD133-positive hematopoietic stem cell" EXACT [PMID:16140871] xref: CALOHA:TS-0448 xref: FMA:86475 is_a: CL:0000037 ! hematopoietic stem cell [Term] id: CL:0001025 name: Kit-positive, Sca1-positive common lymphoid progenitor def: "A common lymphoid progenitor that is Kit-low, FLT3-positive, IL7ralpha-positive, and SCA1-low." [GO_REF:0000031, GOC:add, GOC:amm, GOC:tfm, http://www.immgen.org/index_content.html, PMID:17952047] comment: Markers are associated with mouse cells. synonym: "CD217-positive common lymphocyte precursor" EXACT [] synonym: "CD217-positive common lymphocyte progenitor" EXACT [] synonym: "CD217-positive common lymphoid precursor" EXACT [] is_a: CL:0000051 ! common lymphoid progenitor is_a: CL:0001030 ! CD117-positive common myeloid progenitor OR CD217-positive common lymphoid progenitor [Term] id: CL:0001026 name: CD34-positive, CD38-positive common myeloid progenitor def: "A common myeloid progenitor that is CD34-positive, CD38-positive, IL3ra-low, CD10-negative, CD7-negative, CD45RA-negative, and IL-5Ralpha-negative." [GO_REF:0000031, GOC:add, GOC:amm, PMCID:PMC2626675, PMID:16551251] comment: Markers are associated with human cell type. Originally described in the dendritic cell ontology (DC_CL:0000038)(PMID:19243617). synonym: "CD71-positive common myeloid precursor" NARROW [] is_a: CL:0000049 ! common myeloid progenitor is_a: CL:0000995 ! CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor [Term] id: CL:0001027 name: CD7-negative lymphoid progenitor cell def: "CD7-negative lymphoid progenitor cell is a lymphoid progenitor cell that is CD34-positive, CD7-negative and CD45RA-negative." [GO_REF:0000031, GOC:amm, PMID:16551251] comment: These markers are associated with human cells. Originally described in the dendritic cell ontology (DC_CL:0000039)(PMID:19243617). synonym: "CD7-negative lymphoid precursor" EXACT [] is_a: CL:0000051 ! common lymphoid progenitor is_a: CL:0001012 ! CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor [Term] id: CL:0001028 name: CD7-positive lymphoid progenitor cell def: "CD7-positive lymphoid progenitor cell is a lymphoid progenitor cell that is CD34-positive, CD7-positive and is CD45RA-negative." [GO_REF:0000031, GOC:amm, GOC:tfm, PMID:16551251, PMID:19491395] comment: These markers are associated with human cells. Originally described in the dendritic cell ontology (DC_CL:0000040)(PMID:19243617). synonym: "CD7-positive lymphoid precursor" EXACT [] is_a: CL:0000051 ! common lymphoid progenitor [Term] id: CL:0001029 name: common dendritic progenitor def: "Common dendritic precursor is a hematopoietic progenitor cell that is CD117-low, CD135-positive, CD115-positive and lacks plasma membrane parts for hematopoietic lineage markers." [GO_REF:0000031, GOC:amm, GOC:tfm, PMID:16551251, PMID:17922016, PMID:19286519] comment: Surface markers are for mouse cells. Originally described in the dendritic cell ontology (DC_CL:0000041) CDP are reportedly CD2-negative, CD3-negative, CD4-negative, CD5-negative, CD8a-negative, CD11c-positive, CD14-negative, CD19-negative, CD20-negative, CD56-negative, B220-negative, Ly6g-negative, MHCII-positive, and Ter119-negative. (PMID:19243617). synonym: "CDP" EXACT [PMID:21219184] synonym: "common dendritic precursor" EXACT [] synonym: "pro-DCs" EXACT [PMID:21219184] is_a: CL:0001019 ! CD115-positive monocyte OR common dendritic progenitor [Term] id: CL:0001030 name: CD117-positive common myeloid progenitor OR CD217-positive common lymphoid progenitor comment: Originally described in the dendritic cell ontology (DC_CL:1111100)(PMID:19243617). is_a: CL:0002032 ! hematopoietic oligopotent progenitor cell union_of: CL:0001023 ! Kit-positive, CD34-positive common myeloid progenitor union_of: CL:0001025 ! Kit-positive, Sca1-positive common lymphoid progenitor [Term] id: CL:0001063 name: neoplastic cell def: "An abnormal cell exhibiting dysregulation of cell proliferation or programmed cell death and capable of forming a neoplasm, an aggregate of cells in the form of a tumor mass or an excess number of abnormal cells (liquid tumor) within an organism." [GOC:add, GOC:cg, GOC:wdd] comment: https://github.com/obophenotype/cell-ontology/issues/448 synonym: "tumor cell" RELATED [] synonym: "tumour cell" RELATED [] xref: GOC:add xref: GOC:cg xref: GOC:wdd xref: https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C12922 xref: NCIt:C12922 is_a: CL:0000000 ! cell is_a: EFO:0000324 ! cell type relationship: part_of EFO:0000616 ! neoplasm property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9990-8331 property_value: http://purl.org/dc/terms/date 2017-01-30T19:16:26Z xsd:dateTime [Term] id: CL:0001067 name: group 1 innate lymphoid cell def: "An innate lymphoid cell that is capable of producing the type 1 cytokine IFN-gamma, but not Th2 or Th17 cell-associated cytokines." [GOC:add, GOC:dsd, PMID:23348417] subset: human_reference_atlas is_a: CL:0000542 ! lymphocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9990-8331 property_value: http://purl.org/dc/terms/date 2017-01-30T20:42:44Z xsd:dateTime property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0001069 name: group 2 innate lymphoid cell def: "An innate lymphoid cell that is capable of producing T-helper 2-cell associated cytokines upon stimulation." [GOC:add, GOC:dsd, PMID:23292121, PMID:23562755] subset: human_reference_atlas synonym: "ILC2" EXACT [] synonym: "natural helper cell" EXACT [] synonym: "nuocyte" EXACT [] is_a: CL:0000542 ! lymphocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9990-8331 property_value: http://purl.org/dc/terms/date 2017-01-30T21:20:08Z xsd:dateTime property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0001071 name: group 3 innate lymphoid cell def: "An innate lymphoid cell that constituitively expresses RORgt and is capable of expressing IL17A and/or IL-22." [GOC:add, GOC:dsd, PMID:23292121, PMID:23348417] subset: human_reference_atlas synonym: "ILC3" EXACT [] is_a: CL:0000542 ! lymphocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9990-8331 property_value: http://purl.org/dc/terms/date 2017-01-31T20:21:26Z xsd:dateTime property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0002000 name: Kit-positive erythroid progenitor cell def: "An erythroid progenitor cell is Kit-positive, Ly6A-negative, CD41-negative, CD127-negative, and CD123-negative. This cell type is also described as being lin-negative, Kit-positive, CD150-negative, CD41-negative, CD105-positive, and FcgR-negative." [GOC:ak, GOC:tfm, http://www.immgen.org/index_content.html, PMID:19805084] comment: Markers found on mouse cells. synonym: "c- Kit-positive erythroid progenitor cell" EXACT [] is_a: CL:0000038 ! erythroid progenitor cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-04-26T10:14:16Z [Term] id: CL:0002001 name: CD34-positive, CD38-positive granulocyte monocyte progenitor def: "A granulocyte monocyte progenitor is CD34-positive, CD38-positive, IL-3receptor-alpha-positive and is CD45RA-negative." [GOC:tfm, PMID:12615892, PMID:19022770] comment: Markers are for human cells. According to different research groups, CD45RA is present or absent on this cell population. is_a: CL:0000557 ! granulocyte monocyte progenitor cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-01-13T03:19:22Z [Term] id: CL:0002002 name: Kit-positive granulocyte monocyte progenitor def: "A granulocyte monocyte progenitor that is Kit-positive, CD34-positive, Fc-gamma receptor II/II-positive, and is Sca-1-negative, Il7ra-negative, Cxc3r1-negative, and CD90-negative." [GOC:tfm, http://www.immgen.org/index_content.html, PMID:12615892, PMID:16322423, PMID:19022770, PMID:19273628] comment: Markers are found on mouse cells. is_a: CL:0000557 ! granulocyte monocyte progenitor cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-01-13T03:19:28Z [Term] id: CL:0002003 name: CD34-positive, GlyA-negative erythroid progenitor cell def: "An erythroid progenitor cell that is CD34-positive and is GlyA-negative." [GOC:ak, GOC:tfm, PMID:19621348] comment: Cell markers associated with human cells. xref: FMA:83517 is_a: CL:0000038 ! erythroid progenitor cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-04-26T10:14:30Z [Term] id: CL:0002004 name: CD34-negative, GlyA-negative proerythroblast def: "A proerythoblast that is CD34-negative and GlyA-negative." [GOC:ak, GOC:tfm, PMID:19621348] comment: Cell surface markers are associated with human cells. is_a: CL:0000547 ! proerythroblast property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-04-26T10:31:50Z [Term] id: CL:0002005 name: CD34-positive, CD38-positive megakaryocyte erythroid progenitor cell def: "A megakaryocyte erythroid progenitor cell is CD34-positive, CD38-positive and is IL3-receptor alpha-negative and CD45RA-negative." [GOC:tfm, PMID:12615892, PMID:190227700] comment: Markers are associated with human cell type. is_a: CL:0000050 ! megakaryocyte-erythroid progenitor cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-01-13T03:43:10Z [Term] id: CL:0002006 name: Kit-positive, CD34-negative megakaryocyte erythroid progenitor cell def: "A megakaryocyte erythroid progenitor cell that is Kit-positive and is Sca1-negative, CD34-negative, CD90-negative, IL7r-alpha-negative and Fcgr II/III-low." [GOC:tfm, http://www.immgen.org/index_content.html, PMID:12615892, PMID:19022770] comment: Markers are associated with mouse cells. is_a: CL:0000050 ! megakaryocyte-erythroid progenitor cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-01-13T03:43:12Z [Term] id: CL:0002007 name: Kit-low, CD34-positive eosinophil progenitor cell def: "A lineage marker-negative, CD34-positive, IL5r-alpha-positive, and Sca1-negative eosinophil progenitor cell." [GOC:tfm, PMID:17582345] comment: Markers are found on mouse cells. is_a: CL:0000611 ! eosinophil progenitor cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-01-14T03:25:15Z [Term] id: CL:0002008 name: CD34-positive, CD38-positive eosinophil progenitor cell def: "A lineage marker-negative, CD34-positive, CD38-positive, IL3r-alpha-positive, IL5r-alpha-positive, and CD45RA-negative eosinophil progenitor cell." [GOC:tfm, PMCID:PMC2626675] comment: Markers are associated with human cells. is_a: CL:0000611 ! eosinophil progenitor cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-01-14T03:25:17Z [Term] id: CL:0002009 name: macrophage dendritic cell progenitor def: "A progenitor cell that can give rise to plasmacytoid and myeloid dendritic cells, and to monocytes and macrophages." [GOC:tfm, PMID:19273628] synonym: "MDP" EXACT [] is_a: CL:0000763 ! myeloid cell is_a: CL:0002032 ! hematopoietic oligopotent progenitor cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-01-19T02:51:58Z [Term] id: CL:0002010 name: pre-conventional dendritic cell def: "A lin-negative, MHC-II-negative, CD11c-positive, FLT3-positive cell with intermediate expression of SIRP-alpha." [GOC:tfm] is_a: CL:0000763 ! myeloid cell is_a: CL:0002031 ! hematopoietic lineage restricted progenitor cell creation_date: 2010-01-19T03:39:30Z [Term] id: CL:0002011 name: Kit-positive macrophage dendritic cell progenitor def: "A progenitor cell that can give rise to plasmacytoid and myeloid dendritic cells, and to monocytes and macrophages. Marker for this cell is Kit-high, CD115-positive, CD135-positive, Cx3cr1-positive, and is Il7ra-negative." [GOC:tfm, PMID:19273628] comment: Markers are associated with mouse cells. synonym: "murine MDP" EXACT [] is_a: CL:0002009 ! macrophage dendritic cell progenitor property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-01-26T02:43:40Z [Term] id: CL:0002012 name: Kit-low proerythroblast def: "A proerythoblast that is Kit-low, Lyg76-positive, and CD71-positive." [GOC:ak, GOC:tfm, PMID:19805084] comment: Markers are associated with mouse cells. is_a: CL:0000547 ! proerythroblast property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-04-26T10:31:56Z [Term] id: CL:0002013 name: GlyA-positive basophilic erythroblast def: "A basophilic erythroblast that is GlyA-positive." [GOC:ak, GOC:tfm, PMID:1638021] comment: Markers are associated with human cells. is_a: CL:0000549 ! basophilic erythroblast property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-04-26T10:41:15Z [Term] id: CL:0002014 name: Kit-negative, Ly-76 high basophilic erythroblast def: "A basophilic erythroblast that is Lyg 76-high and is Kit-negative." [GOC:ak, GOC:tfm, PMID:19805084] comment: Cell surface markers are associated with mouse cells. is_a: CL:0000549 ! basophilic erythroblast property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-04-26T10:41:22Z [Term] id: CL:0002015 name: Kit-negative, Ly-76 high polychromatophilic erythroblast def: "A polychromatophilic erythroblast that is Lyg 76-high and is Kit-negative." [GOC:ak, GOC:tfm, PMID:19805084] synonym: "late basophilic and polychromatophilic erythroblast" BROAD [] is_a: CL:0000550 ! polychromatophilic erythroblast property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-04-26T10:53:11Z [Term] id: CL:0002016 name: CD71-low, GlyA-positive polychromatic erythroblast def: "A polychromatiic erythroblast that is Gly-A-positive and CD71-low." [GOC:ak, GOC:tfm, PMID:1638021] comment: Cell surface markers are associated with human cells. is_a: CL:0000550 ! polychromatophilic erythroblast property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-04-26T10:53:16Z [Term] id: CL:0002017 name: Kit-negative, Ly-76 high orthochromatophilic erythroblasts def: "An orthochromatophilic erythroblast that is ter119-high, CD71-low, and Kit-negative." [GOC:ak, GOC:tfm, PMID:19805084] comment: Cell surface markers associated with mouse cells. is_a: CL:0000552 ! orthochromatic erythroblast property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-04-26T11:04:15Z [Term] id: CL:0002018 name: CD71-negative, GlyA-positive orthochromatic erythroblast def: "An erythroblast that is GlyA-positive and CD71-negative." [GOC:ak, GOC:tfm, PMID:1638021] comment: Markers associated with human cells. is_a: CL:0000552 ! orthochromatic erythroblast property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-04-26T11:04:21Z [Term] id: CL:0002019 name: Ly-76 high reticulocyte def: "A reticulocyte that is Ly76-high and is Kit-negative." [GOC:ak, GOC:tfm, PMID:18539294] comment: Marker associated with mouse cells. is_a: CL:0002422 ! enucleated reticulocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-04-26T11:37:00Z [Term] id: CL:0002020 name: GlyA-positive reticulocytes def: "A reticulocyte that is GlyA-positive." [GOC:ak, GOC:tfm, PMID:1638021] comment: Markers is associated with human cells. is_a: CL:0002422 ! enucleated reticulocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-04-26T11:48:25Z [Term] id: CL:0002021 name: GlyA-positive erythrocyte def: "An enucleate erythrocyte that is GlyA-positive." [GOC:ak, GOC:tfm, PMID:20134094] comment: Marker is associated with human cell types. is_a: CL:0000595 ! enucleate erythrocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-04-26T11:51:22Z [Term] id: CL:0002022 name: Ly-76 high positive erythrocyte def: "An enucleate erythrocyte that is Lyg-76-high." [GOC:ak, GOC:tfm, PMID:19805084] comment: Marker is associated with mouse cell types. is_a: CL:0000595 ! enucleate erythrocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-04-26T11:51:27Z [Term] id: CL:0002023 name: CD34-positive, CD41-positive, CD42-positive megakaryocyte progenitor cell def: "A megakaroycotye progenitor cell that is CD34-positive, CD41-positive and CD42-positive on the cell surface." [GOC:ak, GOC:tfm, PMID:15232614] comment: Markers are associated with human cell type. is_a: CL:0000553 ! megakaryocyte progenitor cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-04-26T02:39:09Z [Term] id: CL:0002024 name: Kit-positive megakaryocyte progenitor cell def: "A megakaryocyte progenitor cell that is Kit-positive, CD41-positive, CD9-positive, Sca-1-negative, IL7ralpha-negative, CD150-negative, and Fcgamma receptor II/III-low." [GOC:ak, GOC:tfm, PMID:16951553] comment: Markers are associated with mouse cells. is_a: CL:0000553 ! megakaryocyte progenitor cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-04-26T02:39:15Z [Term] id: CL:0002025 name: CD34-positive, CD41-positive, CD42-negative megakaryocyte progenitor cell def: "A megakaryocyte progenitor cell that is CD34-positive, CD41-positive, and CD42-negative." [GOC:ak, GOC:tfm, PMID:15232614] comment: Markers are commonly associated with human cells. is_a: CL:0000553 ! megakaryocyte progenitor cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-04-26T03:52:47Z [Term] id: CL:0002026 name: CD34-negative, CD41-positive, CD42-positive megakaryocyte cell def: "A megakaryocyte progenitor cell that is CD34-negative, CD41-positive and CD42-positive." [GOC:ak, GOC:tfm, PMID:15232614] comment: Markers are commonly associated with human cells. is_a: CL:0000556 ! megakaryocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-04-26T03:59:22Z [Term] id: CL:0002027 name: CD9-positive, CD41-positive megakaryocyte cell def: "A megakaryocyte cell with is CD9-positive and CD41-positive." [GOC:tfm] comment: Markers are commonly associated with mouse cells. is_a: CL:0000556 ! megakaryocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-04-27T10:39:07Z [Term] id: CL:0002028 name: basophil mast progenitor cell def: "A cell type that can give rise to basophil and mast cells. This cell is CD34-positive, CD117-positive, CD125-positive, FceRIa-negative, and T1/ST2-negative, and expresses Gata-1, Gata-2, C/EBPa" [GOC:ak, GOC:dsd, GOC:tfm, PMCID:PMC1312421] comment: There may be an intermediate cell type. These cells also CD13-positive, CD16-positive, CD32-positive, and integrin beta 7-positive. Transcription factors: GATA1-positive, MCP-1-positive, mitf-positive, PU.1-positive, and CEBP/a-low. synonym: "BMCP" EXACT [] is_a: CL:0000763 ! myeloid cell is_a: CL:0002191 ! granulocytopoietic cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-04-27T12:46:33Z [Term] id: CL:0002029 name: Fc-epsilon RIalpha-low mast cell progenitor def: "A lineage-negative, Kit-positive, CD45-positive mast cell progenitor that is Fc-epsilon RIalpha-low." [GOC:tfm, PMCID:PMC1312421] is_a: CL:0000831 ! mast cell progenitor property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-04-27T01:22:19Z [Term] id: CL:0002030 name: Fc-epsilon RIalpha-high basophil progenitor cell def: "A lineage negative, Sca1-negative basophil progenitor cell that is Fc epsilon RIalpha-high." [GOC:tfm, PMCID:PMC1312421] comment: Markers are associated with mouse cells. is_a: CL:0000613 ! basophil progenitor cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-04-27T01:22:32Z [Term] id: CL:0002031 name: hematopoietic lineage restricted progenitor cell def: "A hematopoietic progenitor cell that is capable of developing into only one lineage of hematopoietic cells." [GOC:tfm, PMID:19022770] subset: blood_and_immune_upper_slim is_a: CL:0000988 ! hematopoietic cell disjoint_from: CL:0002032 ! hematopoietic oligopotent progenitor cell relationship: located_in UBERON:0002390 ! hematopoietic system property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-01-06T03:43:20Z [Term] id: CL:0002032 name: hematopoietic oligopotent progenitor cell def: "A hematopoietic oligopotent progenitor cell that has the ability to differentiate into limited cell types but lacks lineage cell markers and self renewal capabilities." [GOC:tfm, https://orcid.org/0000-0001-5208-3432, PMID:19022770] comment: This cell type is intended to be compatible with any vertebrate hematopoietic oligopotent progenitor cell. For mammalian hematopoietic oligopotent progenitor cells known to be lineage-negative, please use the term 'hematopoietic oligopotent progenitor cell' (CL_0001060). subset: blood_and_immune_upper_slim is_a: CL:0000988 ! hematopoietic cell relationship: located_in UBERON:0002390 ! hematopoietic system property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-01-06T03:43:27Z [Term] id: CL:0002033 name: short term hematopoietic stem cell def: "A hematopoietic stem cell capable of rapid replenishment of myeloerythroid progenitors and limited self renewal capability. This cell is Kit-positive, Sca1-positive, CD34-positive, CD150-positive, and is Flt3-negative." [GOC:tfm, PMID:15572596, PMID:19022770] comment: Markers are associated with mouse cells. These cells are also reportedly CD11b-low and CD90-low. synonym: "ST stem cell" EXACT [] synonym: "ST-HSC" EXACT [] is_a: CL:0001008 ! Kit and Sca1-positive hematopoietic stem cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-01-08T09:19:25Z [Term] id: CL:0002034 name: long term hematopoietic stem cell def: "A hematopoietic stem cell with long term self renewal capability. This cell is Kit-positive, Sca1-positive, CD150-positive, CD90-low, CD34-negative and Flt3-negative." [GOC:tfm, PMID:15572596, PMID:17582345] comment: Markers are associated with mouse cells. synonym: "LT stem cell" EXACT [] synonym: "LT-HSC" EXACT [] is_a: CL:0001008 ! Kit and Sca1-positive hematopoietic stem cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-01-08T09:19:28Z [Term] id: CL:0002035 name: Slamf1-negative multipotent progenitor cell def: "A hematopoietic progenitor that has restricted self-renewal capability. Cell is Kit-positive, Ly6-positive, CD150-negative and Flt3-negative." [GOC:tfm, PMID:19022770] comment: Markers are associated with mouse cells. is_a: CL:0000837 ! hematopoietic multipotent progenitor cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-01-08T11:16:33Z [Term] id: CL:0002036 name: Slamf1-positive multipotent progenitor cell def: "A hematopoietic progenitor that has some limited self-renewal capability. Cells are lin-negative, Kit-positive, CD34-positive, and Slamf1-positive." [GOC:tfm, PMID:19022770] comment: Markers are associated with mouse cells. synonym: "KSL cell" EXACT [] is_a: CL:0000837 ! hematopoietic multipotent progenitor cell disjoint_from: CL:0002043 ! CD34-positive, CD38-negative multipotent progenitor cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-01-08T11:16:35Z [Term] id: CL:0002037 name: CD2-positive, CD5-positive, CD44-positive alpha-beta intraepithelial T cell def: "Intraepithelial T cells with a memory phenotype of CD2-positive, CD5-positive, and CD44-positive." [GOC:tfm, PMID:16048545] synonym: "memory alpha beta IEL" EXACT [PMID:16048545] is_a: CL:0000793 ! CD4-positive, alpha-beta intraepithelial T cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2009-10-20T02:20:43Z [Term] id: CL:0002038 name: T follicular helper cell def: "A CD4-positive, CXCR5-positive, CCR7-negative alpha-beta T cell located in follicles of secondary lymph nodes that is BCL6-high, ICOS-high and PD1-high, and stimulates follicular B cells to undergo class-switching and antibody production." [GOC:tfm, PMID:19855402, PMID:20107805, PMID:22043829] subset: human_reference_atlas synonym: "follicular B helper T cell" RELATED [PMID:22043829] synonym: "follicular helper T cell" RELATED [PMID:22649468] synonym: "follicular helper T-cell" RELATED [PMID:22508770] synonym: "follicular T cell" RELATED [PMID:20107805, PMID:21914188] synonym: "follicular T-cell" RELATED [] synonym: "follicular T-helper cell" RELATED [PMID:22552227] synonym: "T(FH)" EXACT [PMID:20207847] synonym: "Tfh" EXACT [PMID:20107805, PMID:20383172] is_a: CL:0000492 ! CD4-positive helper T cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 property_value: RO:0002175 NCBITaxon:9606 creation_date: 2009-10-29T04:01:27Z [Term] id: CL:0002039 name: immature NK T cell stage I def: "A CD24-high, CD4-low, CD8-low, CD44-negative, NK1.1-negative NK T cell." [GOC:tfm, PMID:17589542] is_a: CL:0000914 ! immature NK T cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2009-10-29T04:09:16Z [Term] id: CL:0002040 name: immature NK T cell stage II def: "A CD24-low, CD44-negative, NK1.1-negative NK T cell." [GOC:tfm, http://www.immgen.org/index_content.html, PMID:17589542] comment: NKT.44-NK1.1-.Th was assigned as an exact synonym based on sorting strategy displayed at immgene.org. synonym: "NKT.44-NK1.1-.Th" EXACT [] is_a: CL:0000914 ! immature NK T cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2009-10-29T04:13:43Z [Term] id: CL:0002041 name: immature NK T cell stage III def: "A CD24-low, CD44-positive, DX5-low, NK1.1-negative NK T cell." [PMID:17589542] synonym: "NKT.44+.NK1.1-.Th" BROAD [] is_a: CL:0000914 ! immature NK T cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2009-10-29T04:14:48Z [Term] id: CL:0002042 name: immature NK T cell stage IV def: "A CD24-low, CD44-positive, DX5-high, NK1.1-negative NK T cell." [GOC:tfm, http://www.immgen.org/index_content.html, PMID:17589542] subset: human_reference_atlas synonym: "NKT.44+.NK1.1-.Th" BROAD [] is_a: CL:0000914 ! immature NK T cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 property_value: RO:0002175 NCBITaxon:9606 creation_date: 2009-10-29T04:17:38Z [Term] id: CL:0002043 name: CD34-positive, CD38-negative multipotent progenitor cell def: "A hematopoietic multipotent progenitor cell that is CD34-positive, CD38-negative, CD45RA-negative, and CD90-negative." [GOC:tfm, PMID:18371405, PMID:19022770] comment: Cell markers are associated with human hematopoietic multipotent progenitor cells. is_a: CL:0000837 ! hematopoietic multipotent progenitor cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-01-12T11:14:15Z [Term] id: CL:0002044 name: Kit-positive, integrin beta7-high basophil mast progenitor cell def: "A basophil mast progenitor cell that is Beta-7 integrin-high, Kit-positive FcRgammaII/III-positive and Sca1-negative." [GOC:ak, GOC:tfm] comment: Markers are associated with mouse cells. is_a: CL:0002028 ! basophil mast progenitor cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-04-27T01:22:38Z [Term] id: CL:0002045 name: fraction A pre-pro B cell def: "A pro-B cell that is CD45R/B220-positive, CD43-positive, HSA-low, BP-1-negative and Ly6c-negative. This cell type is also described as being lin-negative, AA4-positive, Kit-positive, IL7Ra-positive and CD45R-positive." [GOC:ak, GOC:tfm, http://www.immgen.org/index_content.html, PMID:12633665, PMID:17582343] comment: Markers associated with mouse cells. synonym: "fraction A" BROAD [] synonym: "pre pro B cell" RELATED [] is_a: CL:0000826 ! pro-B cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-04-28T10:50:07Z [Term] id: CL:0002046 name: early pro-B cell def: "A pro-B cell that is CD22-positive, CD34-positive, CD38-positive and TdT-positive (has TdT activity). Pre-BCR is expressed on the cell surface. Cell is CD19-negative, CD20-negative, complement receptor type 2-negative and CD10-low. D-to-J recombination of the heavy chain occurs at this stage." [GOC:dsd, GOC:tfm, PMID:18432934] comment: Markers are commonly associated with human cells. These cells are also reportedly CD21-negative. Transcription factors: PU.1-positive, Ikaros-positive, E2A-positive, and PAX5-positive. is_a: CL:0000826 ! pro-B cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-04-28T11:19:11Z [Term] id: CL:0002047 name: fraction B precursor B cell def: "A precursor B cell that is CD45RA-positive, CD43-positive, CD24-positive and BP-1-negative." [GOC:ak, GOC:tfm, PMID:18432934] comment: Markers are commonly associated with mouse cells. These cells are also reportedly RAG1-positive and RAG2-positive. synonym: "Fr. B" BROAD [] synonym: "Fraction B" BROAD [] is_a: CL:0002400 ! fraction B/C precursor B cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-04-28T11:56:21Z [Term] id: CL:0002048 name: late pro-B cell def: "A pre-B cell precursor is CD19-low, CD22-positive , CD34-positive, CD38-positive." [GOC:dsd, GOC:tfm, PMID:18432934] comment: Late pro-B cells are also reportedly CD10-positive, CD20-negative, CD21-negative, and TdT-positive. Transcription factors: PU.1-positive, Ikaros-positive, E2A-positive, and PAX5-positive. is_a: CL:0000817 ! precursor B cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-04-28T12:06:06Z [Term] id: CL:0002049 name: fraction C precursor B cell def: "A precursor B cell that is CD45R-positive, CD43-positive, CD24-positive, and BP-positive. Intracellularly expression of surrogate light chain, Rag1 and Rag2, TdT, occurs while there is no expression of mu heavy chain." [GOC:tfm, PMID:17582343] synonym: "Fraction C" RELATED [] is_a: CL:0002400 ! fraction B/C precursor B cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-04-28T02:04:01Z [Term] id: CL:0002050 name: fraction C' precursor B cell def: "A pre-BCR-positive precursor B cell that is CD24-high, CD25-positive, CD43-positive, CD45R-positive and BP-positive." [GOC:tfm, PMID:17582343] synonym: "Fr. C'" BROAD [] synonym: "Fraction C-prime" BROAD [] is_a: CL:0000817 ! precursor B cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-04-28T02:13:46Z [Term] id: CL:0002051 name: CD38-high pre-BCR positive cell def: "A pre-BCR positive B cell that is CD38-high." [GOC:tfm, PMID:18432934] comment: Markers are associated with human cells. synonym: "large pre-B cell type I" RELATED [] is_a: CL:0000952 ! preBCR-positive large pre-B-II cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-04-28T02:27:47Z [Term] id: CL:0002052 name: fraction D precursor B cell def: "A pre-B cell that is pre-BCR-negative, and the kappa- and lambda- light immunoglobulin light chain-negative, CD43-low, and is BP-1-positive, CD45R-positive and CD25-positive. This cell type is also described as being AA4-positive, IgM-negative, CD19-positive, CD43-low/negative, and HSA-positive." [GOC:ak, GOC:dsd, GOC:tfm, http://www.immgen.org/index_content.html, PMID:17582343, PMID:18432934] comment: Fraction D precursor B cells are also reportedly CD24-positive and sIgD-negative. synonym: "Fr. D" BROAD [] synonym: "fraction D pre-B cell" EXACT [GOC:tfm] is_a: CL:0002400 ! fraction B/C precursor B cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-04-28T02:55:16Z [Term] id: CL:0002053 name: CD22-positive, CD38-low small pre-B cell def: "A small pre-B cell that is CD22-positive and CD38-low." [GOC:tfm, PMID:18432934] comment: Markers are associated with human cell. RAG expression maybe diminishing. synonym: "small pre-B cell" EXACT [] is_a: CL:0000954 ! small pre-B-II cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-04-28T03:04:48Z [Term] id: CL:0002054 name: fraction E immature B cell def: "An immature B cell that is IgM-positive, CD45R-positive, CD43-low, CD25-negative, and CD127-negative. This cell type has also been described as being AA4-positive, IgM-positive, CD19-positive, CD43-low/negative, and HSA-positive." [GOC:ak, GOC:dsd, GOC:tfm, PMID:17582343, PMID:18432934] comment: Markers associated with mouse cells. These cells are also reportedly sIgD-negative. is_a: CL:0000816 ! immature B cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-04-28T03:13:47Z [Term] id: CL:0002055 name: CD38-negative immature B cell def: "An immature B cell that is CD38-negative, CD10-low, CD21-low, and CD22-high." [GOC:tfm, PMID:18432934] comment: Markers are associated with human cell type. is_a: CL:0000816 ! immature B cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-04-28T03:19:14Z [Term] id: CL:0002056 name: fraction F mature B cell def: "A mature B cell subset originally defined as having being CD45R-positive, IgM-positive, IgD-positive and CD43-negative. Subsequent research demonstrated being CD21-positive and CD23-negative and CD93 negative." [GOC:tfm, PMID:17582343] is_a: CL:0000822 ! B-2 B cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-04-30T03:01:48Z [Term] id: CL:0002057 name: CD14-positive, CD16-negative classical monocyte def: "A classical monocyte that is CD14-positive, CD16-negative, CD64-positive, CD163-positive." [GOC:add, GOC:tfm, PMID:15615263, PMID:1706877, PMID:19689341, PMID:22343568] comment: This cell type is compatible with the HIPC Lyoplate markers for 'CD16- monocyte'. The markers used in the definition are associated with human monocytes. synonym: "CD16- monocyte" EXACT [PMID:22343568] synonym: "CD16-negative monocyte" EXACT [] is_a: CL:0000860 ! classical monocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-06-05T08:25:41Z [Term] id: CL:0002058 name: Gr1-low non-classical monocyte def: "A resident monocyte that is Gr-1 low, CD43-positive, and CX3CR1-positive." [GOC:tfm, PMID:8890901] comment: Markers are associated with mice. The Gr epitope is used to describe this cell type is found on both Ly6c and Ly6g. However, its the Ly6c that is considered the specific marker, and thus used in the cross-product. Also, this cell-type is sometimes described as being Gr1-negative. is_a: CL:0000875 ! non-classical monocyte is_a: CL:0002398 ! Gr1-positive, CD43-positive monocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-06-05T08:25:44Z [Term] id: CL:0002059 name: CD8alpha-positive thymic conventional dendritic cell def: "A conventional thymic dendritic cell that is CD8alpha-positive." [GOC:tfm, http://www.immgen.org/index_content.html, PMID:19273629] subset: human_reference_atlas synonym: "CD8alpha-alpha-positive thymic conventional dendritic cell" EXACT [] synonym: "DC.8+.Th" EXACT [] is_a: CL:0000941 ! thymic conventional dendritic cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 property_value: RO:0002175 NCBITaxon:9606 creation_date: 2010-06-07T02:48:36Z [Term] id: CL:0002060 name: melanophage def: "A melanin-containing macrophage that obtains the pigment by phagocytosis of melanosomes." [GOC:tfm, PMID:20479296, PMID:2943821] is_a: CL:0000864 ! tissue-resident macrophage property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-06-22T10:46:12Z [Term] id: CL:0002061 name: T-helper 9 cell def: "A T-helper cell that is characterized by secreting interleukin 9 and responding to helminth infections. This cell-type can derives from Th2 cells in the presence of TGF-beta and IL-4. Th2 cytokine production is surpressed." [GOC:tfm, PMID:18931678, PMID:19604299, PMID:20154671] synonym: "T helper cells type 9" EXACT [] synonym: "T(H)-9 cell" EXACT [] synonym: "Th9" EXACT [PMID:18931678] is_a: CL:0000492 ! CD4-positive helper T cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-06-22T11:18:44Z [Term] id: CL:0002062 name: type I pneumocyte def: "A type I pneumocyte is a flattened, branched pneumocyte that covers more than 98% of the alveolar surface. This large cell has thin (50-100 nm) cytoplasmic extensions to form the air-blood barrier essential for normal gas exchange." [GOC:tfm, http://www.copewithcytokines.de, PMID:20054144] subset: human_reference_atlas synonym: "AT1" EXACT [] synonym: "ATI" EXACT [] synonym: "lung type 1 cells" EXACT [] synonym: "membranous pneumocytes" EXACT [] synonym: "pulmonary alveolar type I cell" EXACT [] synonym: "small alveolar cells" EXACT [] synonym: "squamous alveolar cell" EXACT [] synonym: "squamous alveolar lining cell" EXACT [] synonym: "type 1 alveolar epithelial cells" EXACT [] synonym: "type 1 pneumocyte" EXACT [] synonym: "type I alveolar cells" EXACT [] synonym: "type I alveolar epithelial cells" EXACT [] xref: BTO:0000780 xref: FMA:62500 is_a: CL:0000066 ! epithelial cell is_a: EFO:0001986 ! lung structure relationship: part_of UBERON:0002299 ! alveolus of lung property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 property_value: RO:0002175 NCBITaxon:9606 creation_date: 2010-06-23T04:37:54Z [Term] id: CL:0002063 name: type II pneumocyte def: "A type II pneumocyte is a pneumocyte that modulates the fluid surrounding the alveolar epithelium by secreting and recycling surfactants. This cell type also contributes to tissue repair and can differentiate after injury into a type I pneumocyte. Thicker than squamous alveolar cells, have a rounded apical surface that projects above the level of surrounding epithelium. The free surface is covered by short microvilli." [GOC:tfm, http://www.copewithcytokines.de, ISBN:0412046911, PMID:8540632] subset: human_reference_atlas synonym: "AT2" EXACT [] synonym: "ATII" EXACT [] synonym: "cuboidal type II cell" EXACT [] synonym: "granular pneumocyte" EXACT [] synonym: "great alveolar cell" EXACT [] synonym: "lung type 2 cell" EXACT [] synonym: "lung type II cell" RELATED [] synonym: "TII" EXACT [] synonym: "type 2 alveolar epithelial cell" EXACT [] synonym: "type 2 alveolocyte" EXACT [] synonym: "type 2 pneumocyte" EXACT [] synonym: "type II alveolar cell" EXACT [] synonym: "type II alveolar epithelial cell" EXACT [] synonym: "type II alveolocyte" EXACT [] xref: BTO:0000538 xref: FMA:62501 is_a: CL:0000066 ! epithelial cell is_a: CL:0000151 ! secretory cell is_a: EFO:0001986 ! lung structure relationship: part_of UBERON:0002299 ! alveolus of lung property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 property_value: RO:0002175 NCBITaxon:9606 creation_date: 2010-06-24T12:04:13Z [Term] id: CL:0002079 name: pancreatic ductal cell def: "Epithelial cell found in the ducts of the pancreas. This cell type contributes to the high luminal pH." [FMA:63099, GOC:tfm, PMID:14740223] subset: human_reference_atlas xref: FMA:63099 xref: GOC:tfm xref: PMID:14740223 is_a: CL:0000083 ! epithelial cell of pancreas property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 property_value: RO:0002175 NCBITaxon:9606 creation_date: 2010-06-30T08:49:43Z [Term] id: CL:0002087 name: nongranular leukocyte def: "A leukocyte that lacks granules." [GOC:tfm] subset: blood_and_immune_upper_slim synonym: "agranular leukocyte" EXACT [] xref: FMA:62855 is_a: CL:0000738 ! leukocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-07-22T11:30:33Z [Term] id: CL:0002089 name: group 2 innate lymphoid cell, mouse def: "A group 2 innate lymphoid cell in the mouse capable of secreting IL-13 in response to a helminth infection. This cell is lineage-negative, ICOS-positive, IL1RL1-positive, IL7Ralpha-positive, and IL17Br-positive." [GOC:add, GOC:tfm, PMID:20200518] synonym: "nuocyte" BROAD [] is_a: CL:0001069 ! group 2 innate lymphoid cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-08-12T02:22:19Z [Term] id: CL:0002092 name: bone marrow cell def: "A cell found in the bone marrow. This can include fibroblasts, macrophages, adipocytes, osteoblasts, osteoclasts, endothelial cells and hematopoietic cells." [GOC:tfm, ISBN:0618947256] comment: MH consider whether bone marrow cells are bone cells in the structural sense vs. being part of bone organ sense. xref: BTO:0004850 xref: FMA:83621 xref: MESH:D001854 is_a: CL:0000000 ! cell is_a: EFO:0000324 ! cell type is_a: EFO:0003858 ! skeleton structure relationship: part_of UBERON:0002371 ! bone marrow property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-07-22T04:48:15Z [Term] id: CL:0002101 name: CD38-positive naive B cell def: "A CD38-positive naive B cell is a mature B cell that has the phenotype CD38-positive, surface IgD-positive, surface IgM-positive, and CD27-negative, and that has not yet been activated by antigen in the periphery." [GOC:dsd, GOC:rhs, GOC:tfm, PMID:20123131] synonym: "CD38+ naive B cell" EXACT [] synonym: "CD38+ naive B lymphocyte" EXACT [] synonym: "CD38+ naive B-cell" EXACT [] synonym: "CD38+ naive B-lymphocyte" EXACT [] synonym: "CD38-positive naive B lymphocyte" EXACT [] synonym: "CD38-positive naive B-cell" EXACT [] synonym: "CD38-positive naive B-lymphocyte" EXACT [] is_a: CL:0000788 ! naive B cell [Term] id: CL:0002102 name: CD38-negative naive B cell def: "A CD38-negative naive B cell is a mature B cell that has the phenotype CD38-negative, surface IgD-positive, surface IgM-positive, and CD27-negative, that has not yet been activated by antigen in the periphery." [GOC:dsd, GOC:rhs, GOC:tfm, PMID:20123131] synonym: "CD38- naive B cell" EXACT [] synonym: "CD38- naive B lymphocyte" EXACT [] synonym: "CD38- naive B-cell" EXACT [] synonym: "CD38- naive B-lymphocyte" EXACT [] synonym: "CD38-negative naive B lymphocyte" EXACT [] synonym: "CD38-negative naive B-cell" EXACT [] synonym: "CD38-negative naive B-lymphocyte" EXACT [] is_a: CL:0000788 ! naive B cell [Term] id: CL:0002103 name: IgG-positive double negative memory B cell def: "An IgG-positive double negative memory B cell is a double negative memory B cell with the phenotype IgG-positive, IgD-negative, and CD27-negative." [GOC:dsd, GOC:rhs, GOC:tfm, PMID:20123131] synonym: "IgG+ dn memory B cell" EXACT [] synonym: "IgG+ dn memory B lymphocyte" EXACT [] synonym: "IgG+ dn memory B-cell" EXACT [] synonym: "IgG+ dn memory B-lymphocyte" EXACT [] synonym: "IgG+ double negative memory B cell" EXACT [] synonym: "IgG+ double negative memory B lymphocyte" EXACT [] synonym: "IgG+ double negative memory B-cell" EXACT [] synonym: "IgG+ double negative memory B-lymphocyte" EXACT [] synonym: "IgG-positive dn memory B cell" EXACT [] synonym: "IgG-positive dn memory B lymphocyte" EXACT [] synonym: "IgG-positive dn memory B-cell" EXACT [] synonym: "IgG-positive dn memory B-lymphocyte" EXACT [] synonym: "IgG-positive double negative memory B lymphocyte" EXACT [] synonym: "IgG-positive double negative memory B-cell" EXACT [] synonym: "IgG-positive double negative memory B-lymphocyte" EXACT [] is_a: CL:0000981 ! double negative memory B cell [Term] id: CL:0002104 name: IgG-negative double negative memory B cell def: "An IgG-negative double negative memory B cell is a double negative memory B cell with the phenotype IgG-negative, IgD-negative, and CD27-negative." [GOC:dsd, GOC:rhs, GOC:tfm, PMID:20123131] synonym: "IgG- dn memory B cell" EXACT [] synonym: "IgG- dn memory B lymphocyte" EXACT [] synonym: "IgG- dn memory B-cell" EXACT [] synonym: "IgG- dn memory B-lymphocyte" EXACT [] synonym: "IgG- double negative memory B cell" EXACT [] synonym: "IgG- double negative memory B lymphocyte" EXACT [] synonym: "IgG- double negative memory B-cell" EXACT [] synonym: "IgG- double negative memory B-lymphocyte" EXACT [] synonym: "IgG-negative dn memory B cell" EXACT [] synonym: "IgG-negative dn memory B lymphocyte" EXACT [] synonym: "IgG-negative dn memory B-cell" EXACT [] synonym: "IgG-negative dn memory B-lymphocyte" EXACT [] synonym: "IgG-negative double negative memory B lymphocyte" EXACT [] synonym: "IgG-negative double negative memory B-cell" EXACT [] synonym: "IgG-negative double negative memory B-lymphocyte" EXACT [] is_a: CL:0000981 ! double negative memory B cell [Term] id: CL:0002105 name: CD38-positive IgG memory B cell def: "A CD38-positive IgG memory B cell is a class switched memory B cell that expresses IgG on the cell surface with the phenotype CD38-positive and IgG-positive." [GOC:dsd, GOC:rhs, GOC:tfm, PMID:20123131] synonym: "CD38+ IgG memory B cell" EXACT [] synonym: "CD38+ IgG memory B lymphocyte" EXACT [] synonym: "CD38+ IgG memory B-cell" EXACT [] synonym: "CD38+ IgG memory B-lymphocyte" EXACT [] synonym: "CD38-positive IgG memory B lymphocyte" EXACT [] synonym: "CD38-positive IgG memory B-cell" EXACT [] synonym: "CD38-positive IgG memory B-lymphocyte" EXACT [] is_a: CL:0000979 ! IgG memory B cell [Term] id: CL:0002106 name: IgD-positive CD38-positive IgG memory B cell def: "An IgD-positive CD38-positive IgG memory B cell is a CD38-positive IgG-positive class switched memory B cell that has class switched and expresses IgD on the cell surface with the phenotype IgD-positive, CD38-positive, and IgG-positive." [GOC:dsd, GOC:rhs, GOC:tfm, PMID:20123131] is_a: CL:0002105 ! CD38-positive IgG memory B cell [Term] id: CL:0002107 name: IgD-negative CD38-positive IgG memory B cell def: "An IgD-negative CD38-positive IgG memory B cell is a CD38-positive IgG-positive that has class switched and lacks expression of IgD on the cell surface with the phenotype IgD-negative, CD38-positive, and IgG-positive." [GOC:dsd, GOC:rhs, GOC:tfm, PMID:20123131] is_a: CL:0002105 ! CD38-positive IgG memory B cell [Term] id: CL:0002108 name: CD38-negative IgG memory B cell def: "A CD38-negative IgG memory B cell is a IgG-positive class switched memory B cell that has class switched and expresses IgG on the cell surface with the phenotype CD38-negative, IgD-negative, and IgG-positive." [GOC:dsd, GOC:rhs, GOC:tfm, PMID:20123131] is_a: CL:0000979 ! IgG memory B cell [Term] id: CL:0002109 name: B220-positive CD38-positive naive B cell def: "A B220-positive CD38-positive naive B cell is a CD38-positive naive B cell that has the phenotype B220-positive, CD38-positive, surface IgD-positive, surface IgM-positive, and CD27-negative, and that has not yet been activated by antigen in the periphery." [GOC:dsd, GOC:rhs, GOC:tfm, PMID:20123131] synonym: "B220+CD38+ naive B cell" EXACT [] synonym: "B220+CD38+ naive B lymphocyte" EXACT [] synonym: "B220+CD38+ naive B-cell" EXACT [] synonym: "B220+CD38+ naive B-lymphocyte" EXACT [] synonym: "B220-positive CD38-positive naive B lymphocyte" EXACT [] synonym: "B220-positive CD38-positive naive B-cell" EXACT [] synonym: "B220-positive CD38-positive naive B-lymphocyte" EXACT [] synonym: "CD38+B220+ naive B cell" EXACT [] synonym: "CD38+B220+ naive B lymphocyte" EXACT [] synonym: "CD38+B220+ naive B-cell" EXACT [] synonym: "CD38+B220+ naive B-lymphocyte" EXACT [] is_a: CL:0002101 ! CD38-positive naive B cell [Term] id: CL:0002110 name: B220-low CD38-positive naive B cell def: "A B220-low CD38-positive naive B cell is a CD38-positive naive B cell that has the phenotype B220-low, CD38-positive, surface IgD-positive, surface IgM-positive, and CD27-negative, that has not yet been activated by antigen in the periphery." [GOC:dsd, GOC:rhs, GOC:tfm, PMID:20123131] is_a: CL:0002109 ! B220-positive CD38-positive naive B cell [Term] id: CL:0002111 name: CD38-negative unswitched memory B cell def: "An CD38-negative unswitched memory B cell is an unswitched memory B cell that has the phenotype CD38-negative, IgD-positive, CD138-negative, and IgG-negative." [GOC:dsd, GOC:rhs, GOC:tfm, PMID:20123131] synonym: "CD38- unswitched memory B cell" EXACT [] synonym: "CD38- unswitched memory B lymphocyte" EXACT [] synonym: "CD38- unswitched memory B-cell" EXACT [] synonym: "CD38- unswitched memory B-lymphocyte" EXACT [] synonym: "CD38-negative unswitched memory B lymphocyte" EXACT [] synonym: "CD38-negative unswitched memory B-cell" EXACT [] synonym: "CD38-negative unswitched memory B-lymphocyte" EXACT [] is_a: CL:0000970 ! unswitched memory B cell [Term] id: CL:0002112 name: B220-positive CD38-negative unswitched memory B cell def: "A B220-positive CD38-negative unswitched memory B cell is a CD38-negative unswitched memory B cell that has the phenotype B220-positive, CD38-negative, IgD-positive, CD138-negative, and IgG-negative." [GOC:dsd, GOC:rhs, GOC:tfm, PMID:20123131] is_a: CL:0002111 ! CD38-negative unswitched memory B cell [Term] id: CL:0002113 name: B220-low CD38-negative unswitched memory B cell def: "A B220-low CD38-negative unswitched memory B cell is a CD38-negative unswitched memory B cell that has the phenotype B220-low, CD38-negative, IgD-positive, CD138-negative, and IgG-negative." [GOC:dsd, GOC:rhs, GOC:tfm, PMID:20123131] is_a: CL:0002112 ! B220-positive CD38-negative unswitched memory B cell [Term] id: CL:0002114 name: CD38-positive unswitched memory B cell def: "A CD38-positive unswitched memory B cell is an unswitched memory B cell that has the phenotype CD38-positive, IgD-positive, CD138-negative, and IgG-negative." [GOC:dsd, GOC:rhs, GOC:tfm, PMID:20123131] synonym: "CD38+ unswitched memory B cell" EXACT [] synonym: "CD38+ unswitched memory B lymphocyte" EXACT [] synonym: "CD38+ unswitched memory B-cell" EXACT [] synonym: "CD38+ unswitched memory B-lymphocyte" EXACT [] synonym: "CD38-positive unswitched memory B lymphocyte" EXACT [] synonym: "CD38-positive unswitched memory B-cell" EXACT [] synonym: "CD38-positive unswitched memory B-lymphocyte" EXACT [] is_a: CL:0000970 ! unswitched memory B cell [Term] id: CL:0002115 name: B220-positive CD38-positive unswitched memory B cell def: "A B220-positive CD38-positive unswitched memory B cell is a CD38-positive unswitched memory B cell that has the phenotype B220-positive, CD38-positive, IgD-positive, CD138-negative, and IgG-negative." [GOC:dsd, GOC:rhs, GOC:tfm, PMID:20123131] is_a: CL:0002114 ! CD38-positive unswitched memory B cell [Term] id: CL:0002116 name: B220-low CD38-positive unswitched memory B cell def: "A B220-low CD38-positive unswitched memory B cell is a CD38-positive unswitched memory B cell that has the phenotype B220-low, CD38-positive, IgD-positive, CD138-negative, and IgG-negative." [GOC:dsd, GOC:rhs, GOC:tfm, PMID:20123131] is_a: CL:0002115 ! B220-positive CD38-positive unswitched memory B cell [Term] id: CL:0002117 name: IgG-negative class switched memory B cell def: "A class switched memory B cell that lacks IgG on the cell surface." [GOC:dsd, GOC:rhs, GOC:tfm, PMID:20123131] synonym: "IgG- class switched memory B cell" EXACT [] synonym: "IgG- class switched memory B lymphocyte" EXACT [] synonym: "IgG- class switched memory B-cell" EXACT [] synonym: "IgG- class switched memory B-lymphocyte" EXACT [] synonym: "IgG-negative class switched memory B lymphocyte" EXACT [] synonym: "IgG-negative class switched memory B-cell" EXACT [] synonym: "IgG-negative class switched memory B-lymphocyte" EXACT [] is_a: CL:0000972 ! class switched memory B cell [Term] id: CL:0002118 name: CD38-negative IgG-negative class switched memory B cell def: "A CD38-negative IgG-negative memory B cell is a IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype CD38-negative and IgG-negative." [GOC:dsd, GOC:rhs, GOC:tfm, PMID:20123131] is_a: CL:0002117 ! IgG-negative class switched memory B cell [Term] id: CL:0002119 name: CD38-positive IgG-negative class switched memory B cell def: "A CD38-positive IgG-negative memory B cell is an IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype CD38-positive and IgG-negative." [GOC:dsd, GOC:rhs, GOC:tfm, PMID:20123131] is_a: CL:0002117 ! IgG-negative class switched memory B cell [Term] id: CL:0002120 name: CD24-positive CD38-negative IgG-negative class switched memory B cell def: "An CD24-positive CD38-negative IgG-negative memory B cell is a CD38-negative IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype CD24-positive, CD38-negative, and IgG-negative." [GOC:dsd, GOC:rhs, GOC:tfm, PMID:20123131] is_a: CL:0002118 ! CD38-negative IgG-negative class switched memory B cell [Term] id: CL:0002121 name: CD24-negative CD38-negative IgG-negative class switched memory B cell def: "A CD24-negative CD38-negative IgG-negative memory B cell is a CD38-negative IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype CD24-negative, CD38-negative, and IgG-negative." [GOC:dsd, GOC:rhs, GOC:tfm, PMID:20123131] is_a: CL:0002118 ! CD38-negative IgG-negative class switched memory B cell [Term] id: CL:0002122 name: B220-positive CD38-positive IgG-negative class switched memory B cell def: "A B220-positive CD38-positive IgG-negative memory B cell is a CD38-positive IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype B220-positive, CD38-positive, and IgG-negative." [GOC:dsd, GOC:rhs, GOC:tfm, PMID:20123131] is_a: CL:0002119 ! CD38-positive IgG-negative class switched memory B cell [Term] id: CL:0002123 name: B220-low CD38-positive IgG-negative class switched memory B cell def: "A B220-low CD38-positive IgG-negative memory B cell is a CD38-positive IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype B220-low, CD38-positive, and IgG-positive." [GOC:dsd, GOC:rhs, GOC:tfm, PMID:20123131] is_a: CL:0002122 ! B220-positive CD38-positive IgG-negative class switched memory B cell [Term] id: CL:0002124 name: CD27-positive gamma-delta T cell def: "A circulating gamma-delta T cell that is CD27-positive and capable of producing IFN-gamma." [GOC:dsd, GOC:tfm, PMID:19270712] synonym: "gammadelta27-positive" EXACT [] synonym: "gd27-positive" EXACT [] is_a: CL:0000800 ! mature gamma-delta T cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-08-18T09:57:19Z [Term] id: CL:0002125 name: CD27-negative gamma-delta T cell def: "A circulating gamma-delta T cell that expresses RORgamma(t), is CD27-negative and is capable of IL-17 secretion." [GOC:dsd, GOC:tfm, PMID:19270712] synonym: "gammadelta-17 cells" EXACT [PMID:21976777] is_a: CL:0000800 ! mature gamma-delta T cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-08-18T09:57:29Z [Term] id: CL:0002126 name: CD25-positive, CD27-positive immature gamma-delta T cell def: "A CD25-positive, CD27-positive immature gamma-delta T cell found in the thymus that has an immature phenotype (i.e. CD24-high, CD25-high, CD62L-high, CD44-high, CD2-low, CD5-low)." [GOC:tfm, PMID:19270712] is_a: CL:0000799 ! immature gamma-delta T cell is_a: CL:0000893 ! thymocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-08-18T10:35:37Z [Term] id: CL:0002127 name: innate effector T cell def: "A T cell with a receptor of limited diversity that is capable of immediate effector functions upon stimulation." [GOC:tfm, PMID:20581831] is_a: CL:0000911 ! effector T cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-08-20T02:14:25Z [Term] id: CL:0002128 name: Tc17 cell def: "A CD8-positive, alpha-beta T cell that has the phenotype CXCR3-negative, CCR6-positive, CCR5-high, CD45RA-negative, and capable of producing IL-17 and some IFNg." [GOC:add, GOC:dsd, GOC:tfm, PMID:19201830, PMID:22343568] comment: This cell type is compatible with the HIPC Lyoplate markers for 'Tc17 CD8+ T cell', but its logical definition includes additional known characteristics of Tc17 T cells. Found in the CD27-positive, CD28-positive or CD27-negative, CD28-positive fractions with the phenotype CCR4-negative and CCR7-negative (this sentence not part of definition). synonym: "CD8-positive Th17 cell" EXACT [] synonym: "Tc17 CD8+ T cell" EXACT [PMID:22343568] synonym: "Tc17 T cell" EXACT [] synonym: "Tc17 T lymphocyte" EXACT [] synonym: "Tc17 T-cell" EXACT [] synonym: "Tc17 T-lymphocyte" EXACT [] synonym: "Th17 CD8-positive T cell" EXACT [] synonym: "Th17 non-TFH CD8-positive T cell" EXACT [] is_a: CL:0000908 ! CD8-positive, alpha-beta cytokine secreting effector T cell [Term] id: CL:0002144 name: capillary endothelial cell def: "An endothelial cell found in capillaries." [GOC:tfm] subset: human_reference_atlas xref: BTO:0004956 xref: CALOHA:TS-0112 xref: FMA:67756 is_a: CL:0000071 ! blood vessel endothelial cell relationship: located_in UBERON:0001981 ! blood vessel property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 property_value: RO:0002175 NCBITaxon:9606 creation_date: 2010-08-24T10:15:00Z [Term] id: CL:0002150 name: epithelioid macrophage def: "Epithelioid macrophage is an activated macrophage that resembles an epithelial cell with finely granular, pale eosinophilic cytoplasm and central, ovoid nucleus (oval or elongate). This cell type is able to merge into one another to form aggregates. The presence of such aggregates may characterize some pathologic conditions, mainly granulomatous inflammation." [MESH:D015622, PMID:12673090] synonym: "epithelioid cell" BROAD [] synonym: "epithelioid histocyte" EXACT [MESH:D015622, PMID:12673090] synonym: "epitheloid macrophage" EXACT [] xref: FMA:83514 is_a: CL:0000235 ! macrophage property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-08-24T03:48:30Z [Term] id: CL:0002151 name: late promyelocyte def: "A promyelocyte that is considerably smaller, with more condensed chromatin, and nucleoli are no longer conspicuous." [ISBN:0412046911] xref: FMA:83534 is_a: CL:0000836 ! promyelocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-08-24T03:07:50Z [Term] id: CL:0002154 name: early promyelocyte def: "A promyelocyte with a nucleus that is indented and contains more marginated heterochromatin compared to its precursor cell (myeloblast); cytoplasm is deeply basophilic and contains numerous mitochondria and meandering cysternae of endoplasmic reticulum; largest of the granulocyte lineages." [FMA:0412046911, GOC:tfm] xref: FMA:83533 is_a: CL:0000836 ! promyelocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-08-24T03:07:53Z [Term] id: CL:0002155 name: echinocyte def: "A crenated erythrocyte with 30+ crenations, bumps or spurs that are the result of damage due to age or disease." [GOC:tfm] synonym: "burr cell" EXACT [] xref: FMA:81099 is_a: CL:0000595 ! enucleate erythrocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-08-24T03:15:21Z [Term] id: CL:0002188 name: glomerular endothelial cell def: "An endothelial cell found in the glomerulus of the kidney. This cell is flattened, highly fenestrated, and plays a vital role in the formation of glomerular ultrafiltrate." [GOC:tfm, PMID:15840009] xref: BTO:0004632 xref: FMA:70970 is_a: CL:0000115 ! endothelial cell is_a: CL:1000497 ! kidney cell relationship: part_of UBERON:0004189 ! glomerular endothelium property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-08-26T10:59:44Z [Term] id: CL:0002191 name: granulocytopoietic cell def: "A cell involved in the formation of a granulocyte." [GOC:tfm] xref: FMA:83519 is_a: CL:0000839 ! myeloid lineage restricted progenitor cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-08-30T12:54:27Z [Term] id: CL:0002192 name: metamyelocyte def: "A eosinophil precursor in the granulocytic series, being a cell intermediate in development between a myelocyte and a band form cell. The nucleus becomes indented where the indentation is smaller than half the distance to the farthest nuclear margin; chromatin becomes coarse and clumped; specific granules predominate while primary granules are rare." [GOC:tfm, http://en.wikipedia.org/wiki/Metamyelocyte, ISBN:0721601464] xref: FMA:83541 is_a: CL:0000763 ! myeloid cell is_a: CL:0002191 ! granulocytopoietic cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-08-30T01:08:15Z [Term] id: CL:0002193 name: myelocyte def: "A cell type that is the first of the maturation stages of the granulocytic leukocytes normally found in the bone marrow. Granules are seen in the cytoplasm. The nuclear material of the myelocyte is denser than that of the myeloblast but lacks a definable membrane. The cell is flat and contains increasing numbers of granules as maturation progresses." [GOC:tfm, http://en.wikipedia.org/wiki/Myelocyte, ISBN:0323052908] subset: human_reference_atlas xref: BTO:0000734 xref: FMA:83525 xref: NCIt:C13115 xref: SNOMEDCT:127915008 is_a: CL:0000763 ! myeloid cell is_a: CL:0002191 ! granulocytopoietic cell relationship: located_in UBERON:0002390 ! hematopoietic system property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 property_value: RO:0002175 NCBITaxon:9606 creation_date: 2010-08-30T01:08:19Z [Term] id: CL:0002194 name: monopoietic cell def: "A cell involved in the formation of a monocyte (monopoiesis)." [GOC:tfm] xref: FMA:83552 is_a: CL:0000839 ! myeloid lineage restricted progenitor cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-08-30T01:27:48Z [Term] id: CL:0002201 name: renal beta-intercalated cell def: "A renal intercalated cell that secretes base and reabsorbs acid in the distal segments of the kidney tubule to maintain acid/base balance." [GOC:tfm, PMID:11781354, PMID:25632105] subset: human_reference_atlas synonym: "type B intercalated cell" EXACT [PMID:25632105] synonym: "type B-IC" EXACT [PMID:25632105] is_a: CL:0000066 ! epithelial cell is_a: CL:1000497 ! kidney cell relationship: part_of UBERON:0001232 ! collecting duct of renal tubule property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 property_value: RO:0002175 NCBITaxon:9606 creation_date: 2010-09-02T01:43:55Z [Term] id: CL:0002204 name: brush cell def: "A cell type found in the gastrointestinal and respiratory tracts that is characterized by the presence of a tuft of blunt, squat microvilli (120-140 per cell). Function of this cell type is not known." [GOC:tfm, ISBN:0517223651, PMID:15817800] synonym: "caveolated cell" EXACT [] synonym: "fibrillovesicular cell" EXACT [] synonym: "multivesicular cell" EXACT [] synonym: "tuft cell" EXACT [] xref: FMA:67978 is_a: CL:0000066 ! epithelial cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-09-02T02:28:53Z [Term] id: CL:0002217 name: intermediate trophoblast cell def: "A trophoblast that leaves the placenta and invades the endometrium and myometrium. This cell type is crucial in increasing blood flow to the fetus." [GOC:tfm, http://www.med.yale.edu/obgyn/kliman/placenta/articles/EOR_Placenta/Trophtoplacenta.html] xref: BTO:0002366 xref: FMA:86564 is_a: CL:0000351 ! trophoblast cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-09-02T04:04:36Z [Term] id: CL:0002218 name: immature dendritic epithelial T cell precursor def: "A double negative thymocyte that has a T cell receptor consisting of a gamma chain that has as part a Vgamma3 segment, and a delta chain. This cell type is CD4-negative, CD8-negative and CD24-positive. This cell-type is found in the fetal thymus with highest numbers occurring at E17-E18." [GOC:tfm, http://www.immgen.org] comment: NOTE: currently variable immune gene segments are not represented in the OBO Foundry. Cross-product definitions were not made as a result. Also, there are three different nomenclatures for the variable gamma segments. synonym: "immature DEC precursor" EXACT [] synonym: "immature DETC precursor" EXACT [] is_a: CL:0002404 ! fetal thymocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-07T01:58:00Z [Term] id: CL:0002231 name: epithelial cell of prostate def: "An epithelial cell of the prostate." [GOC:tfm] synonym: "prostate epithelial cell" EXACT [] xref: FMA:256163 xref: FMA:66817 xref: GOC:tfm is_a: CL:0000066 ! epithelial cell relationship: located_in UBERON:0002367 ! prostate gland property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-09-07T01:49:29Z [Term] id: CL:0002246 name: peripheral blood stem cell def: "A hematopoeitic stem cell found in the blood. Normally found in very limited numbers in the peripheral circulation (less than 0.1% of all nucleated cells)." [GOC:tfm] synonym: "PBSC" EXACT [] xref: BTO:0002669 xref: FMA:86711 xref: MESH:D000072916 xref: NCIt:C12946 xref: SNOMEDCT:419583006 is_a: CL:0000037 ! hematopoietic stem cell is_a: CL:0000080 ! circulating cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-09-07T03:57:09Z [Term] id: CL:0002247 name: pleural macrophage def: "A tissue macrophage that is in the pleural space." [GOC:tfm] xref: FMA:83024 is_a: CL:0000864 ! tissue-resident macrophage property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-09-07T04:16:43Z [Term] id: CL:0002248 name: pluripotent stem cell def: "A pluripotent stem cell has the ability to form cells from all three germ layers (ectoderm, mesoderm, and endoderm). However, unlike totipotent stem cells, they cell can not generate all the cells of the whole organism such as placenta." [GOC:tfm, PMID:19343304] xref: FMA:70570 xref: MESH:D039904 xref: NCIt:C12977 is_a: CL:0000723 ! somatic stem cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-09-07T04:26:06Z [Term] id: CL:0002253 name: epithelial cell of large intestine def: "An epithelial cell of the large intestine." [GOC:tfm] synonym: "epithelial cell of colon" RELATED [] xref: BTO:0004297 xref: FMA:256157 is_a: CL:0002563 ! intestinal epithelial cell intersection_of: CL:0002563 ! intestinal epithelial cell intersection_of: part_of UBERON:0000059 ! large intestine relationship: part_of UBERON:0000059 ! large intestine property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-09-08T09:28:22Z [Term] id: CL:0002275 name: pancreatic PP cell def: "A PP cell located in the islets of the pancreas." [GOC:tfm] comment: The term PP cell of pancreatic acinus was obsoleted due to a lack of evidence, making PP cell of pancreatic islets synonymous with pancreatic PP cell. subset: human_reference_atlas synonym: "pancreatic polypeptide-secreting cell" EXACT [] synonym: "PP cell of pancreatic islet" EXACT [] synonym: "PP-cell of pancreatic islet" EXACT [] xref: BTO:0000805 xref: FMA:70588 xref: GOC:tfm xref: MESH:D050418 is_a: CL:0000083 ! epithelial cell of pancreas is_a: CL:0000163 ! endocrine cell is_a: EFO:0003861 ! pancreactic component relationship: part_of UBERON:0000006 ! islet of Langerhans property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 property_value: RO:0002175 NCBITaxon:9606 creation_date: 2010-09-10T03:30:31Z [Term] id: CL:0002318 name: peripheral blood mesothelial cell def: "A mesothelial cell capable of circulating in the blood by first losing its squamous character. This cell can incorporate into the regenerating mesothelium." [GOC:tfm, PMID:14592528] xref: FMA:86712 is_a: CL:0000081 ! blood cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-09-15T10:47:11Z [Term] id: CL:0002319 name: neural cell def: "A cell that is part of the nervous system." [GOC:tfm, ISBN:0618947256] xref: CALOHA:TS-2040 xref: FMA:70333 is_a: CL:0000000 ! cell is_a: EFO:0002963 ! nervous system cell relationship: located_in UBERON:0001016 ! nervous system property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-09-15T01:34:57Z [Term] id: CL:0002321 name: embryonic cell (metazoa) def: "A cell of the embryo." [FMA:0618947256] xref: CALOHA:TS-0263 xref: FMA:82840 xref: FMA:82841 xref: NCIt:C13054 xref: WBbt:0007028 is_a: CL:0000000 ! cell is_a: EFO:0000324 ! cell type intersection_of: EFO:0000324 ! cell type intersection_of: RO:0000056 UBERON:0000922 ! participates_in embryo property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-09-15T03:39:21Z [Term] id: CL:0002322 name: embryonic stem cell def: "A stem cell of embryonic origin." [GOC:dsd, GOC:tfm, ISBN:068340007X, PMID:18179856] comment: This is an in vitro cell type and may be removed in future releases. These cells are reportedly SSEA-4-positive, CD73-negative, and CD324-positive. synonym: "ESC" EXACT [] xref: BTO:0001086 xref: CALOHA:TS-0263 xref: FMA:82841 xref: MESH:D053595 xref: NCIt:C12935 xref: SNOMEDCT:419965008 is_a: CL:0000034 ! stem cell is_a: CL:0002321 ! embryonic cell (metazoa) property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-09-15T03:44:35Z [Term] id: CL:0002327 name: mammary gland epithelial cell def: "An epithelial cell of the mammary gland." [GOC:tfm, PMID:19022771] synonym: "breast epithelial cell" EXACT [] synonym: "mammary epithelial cell" EXACT [] xref: BTO:0004300 xref: GOC:tfm xref: PMID:19022771 is_a: CL:0000066 ! epithelial cell relationship: located_in UBERON:0001911 ! mammary gland property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-09-20T01:49:37Z [Term] id: CL:0002334 name: preadipocyte def: "An undifferentiated fibroblast that can be stimulated to form a fat cell." [GOC:tfm, PMID:18793119] xref: BTO:0001107 is_a: CL:0000057 ! fibroblast property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-09-20T02:31:53Z [Term] id: CL:0002338 name: CD56-positive, CD161-positive immature natural killer cell, human def: "A natural killer cell that is developmentally immature, has the phenotype CD34-negative, CD56-positive, CD117-positive, CD122-positive,and CD161-positive." [GO_REF:0000031, GOC:add, ISBN:0781735149, PMID:12457618] comment: Human markers; killer cell immunoglobulin-like receptor 2DL1 is used as a representative example (PRO at this time lacks a KIR superfamily). synonym: "p-NK" RELATED [PMID:12457618] is_a: CL:0000823 ! immature natural killer cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-09-21T10:06:53Z [Term] id: CL:0002342 name: circulating endothelial cell def: "A circulating endothelial cell of the phenotype CD146-positive, CD105-positive, CD45-negative. This cell type is indicative of recent vascular damage." [GOC:tfm, PMID:19652886] is_a: CL:0000115 ! endothelial cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-09-20T03:49:58Z [Term] id: CL:0002343 name: decidual natural killer cell, human def: "A natural killer cell subset that is found in the decidual of the uterus and is CD56-high, Galectin-1-positive and CD16-negative. This cell type represents the most abundant immune cell type in the decidual during the first trimester of pregnancy." [PMID:14568979, PMID:19800965] synonym: "decidual NK cell" EXACT [] synonym: "dNK cell" EXACT [] is_a: CL:0000824 ! mature natural killer cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-09-20T04:00:02Z [Term] id: CL:0002344 name: CD56-negative, CD161-positive immature natural killer cell, human def: "A natural killer cell that is developmentally immature, has the phenotype CD34-negative, CD56-negative, CD117-positive, CD122-positive,and CD161-positive." [GO_REF:0000031, GOC:add, ISBN:0781735149, PMID:12457618] comment: Human markers; killer cell immunoglobulin-like receptor 2DL1 is used as a representative example (PRO at this time lacks a KIR superfamily). synonym: "p-NK" RELATED [PMID:12457618] is_a: CL:0000823 ! immature natural killer cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-09-20T04:33:11Z [Term] id: CL:0002345 name: CD27-low, CD11b-low immature natural killer cell, mouse def: "An immature natural killer cell that is NK1.1-positive, DX5-positive, Ly49-positive, CD27-low and CD11b-low. This cell type is found in high numbers in the liver." [GOC:tfm, http:www.immgen.org/index_content.html, PMID:19949422] comment: Markers are associated with mouse cells. synonym: "preNK.BM" BROAD [] is_a: CL:0000823 ! immature natural killer cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-09-20T04:41:01Z [Term] id: CL:0002346 name: Dx5-negative, NK1.1-positive immature natural killer cell, mouse def: "An immature natural killer cell that is NK1.1-positive and DX-5 negative." [GOC:tfm, PMID:12766763] is_a: CL:0000823 ! immature natural killer cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-09-21T10:11:44Z [Term] id: CL:0002347 name: CD27-high, CD11b-high natural killer cell, mouse def: "A mature natural killer cell that is CD27-high and CD11b-high. This cell type is capable of interferon-gamma secretion." [GOC:tfm, PMID:19949422] is_a: CL:0000824 ! mature natural killer cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-09-21T10:19:49Z [Term] id: CL:0002348 name: CD27-low, CD11b-high natural killer cell, mouse def: "A CD27-low, CD11b-high natural killer cell that has a higher threshold of activation due to higher expression of inhibitory receptors." [GOC:tfm, PMID:1994922] is_a: CL:0000824 ! mature natural killer cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-09-21T10:19:54Z [Term] id: CL:0002349 name: CD27-high, CD11b-low natural killer cell, mouse def: "A natural killer cell that is CD27-high and CD11b-low." [GOC:tfm, PMID:1994922] is_a: CL:0000824 ! mature natural killer cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-09-21T10:20:00Z [Term] id: CL:0002351 name: progenitor cell of endocrine pancreas def: "A progenitor cell that is able to differentiate into the pancreas alpha, beta and delta endocrine cells. This cell type expresses neurogenin-3 and Isl-1." [GOC:tfm, PMID:20025937, PMID:20217494, PMID:22728667] synonym: "pancreatic endocrine progenitor" EXACT [] synonym: "pancreatic islet progenitor cell" EXACT [] is_a: CL:0000000 ! cell is_a: EFO:0002966 ! pancreatic cell relationship: located_in UBERON:0001264 ! pancreas property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-09-21T04:41:06Z [Term] id: CL:0002352 name: gestational hematopoietic stem cell def: "A hematopoietic stem cell that exists during embryogenesis." [GOC:tfm, ISBN:978-60327-246-6] is_a: CL:0000037 ! hematopoietic stem cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-09-22T09:05:13Z [Term] id: CL:0002353 name: fetal liver hematopoietic progenitor cell def: "A hematopoietic stem cell that resides in the fetal liver. In mice, this cell type is first observed at E10.5. This cell type is MHC-positive, HSA-positive, AA4.1-positive, CD45-positive, Sca-1 positive, CD150-positive, CD48-negative and CD244-negative." [GOC:tfm, ISBN:978-1-60327-346-6, PMID:16569764] xref: similar to CL:0000837\, but in fetal liver is_a: CL:0002321 ! embryonic cell (metazoa) is_a: CL:0002352 ! gestational hematopoietic stem cell relationship: RO:0000056 UBERON:0000922 ! participates_in embryo property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-09-22T09:08:32Z [Term] id: CL:0002354 name: yolk sac hematopoietic stem cell def: "A hematopoietic stem found in the yolk sac. In mice, this cell type is Sca-1-negative, CD45-negative, MHC-negative, HSA-positive, AA4.1-positive, CD44-positive." [doi:10.1097/MOH.0b013e3282f97ae1, GOC:tfm] synonym: "hemangioblast precursor" EXACT [] is_a: CL:0002352 ! gestational hematopoietic stem cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-09-22T09:08:34Z [Term] id: CL:0002355 name: primitive red blood cell def: "A large nucleated basophilic erythrocyte found in mammalian embryos. This cell type arises from the blood islands of yolk sacs and expresses different types of hemoglobins (beta-H1, gamma-1 and zeta) than adult erythrocytes. Considered a type of erythroblast as this cell type can enucleate in circulation." [DOI:10.1097/MOH.0b013e3282f97ae1, GOC:tfm, PMID:11495698] synonym: "primitive erythroblast" EXACT [] synonym: "primitive erythrocyte" EXACT [] synonym: "primitive erythroid cell" EXACT [] is_a: CL:0002417 ! primitive erythroid lineage cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-09-22T09:27:05Z [Term] id: CL:0002356 name: primitive reticulocyte def: "A primitive erythrocyte that has undergone enucleation. This cell type is 3-6 fold bigger than the fetal derived erythrocytes that they co-circulate with during fetal development. Expresses epsilon-gamma hemoglobin chains." [doi:10.1097/MOH.0b013e3282f97ae1, GOC:tfm, PMID:11495698] synonym: "megalocyte" EXACT [] is_a: CL:0002417 ! primitive erythroid lineage cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-09-22T09:35:16Z [Term] id: CL:0002357 name: fetal derived definitive erythrocyte def: "A fetal liver derived enucleated erythrocyte. This erythrocyte resembles adult erythrocytes in that they are small (3- to 6- times smaller than primitive erythrocytes) and produce adult hemaglobins." [GOC:tfm, PMID:11495698] synonym: "macrocyte" EXACT [] is_a: CL:0000595 ! enucleate erythrocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-09-22T09:38:32Z [Term] id: CL:0002358 name: pyrenocyte def: "Derived from the Greek word pyren (the pit of a stone fruit), this is a transient nucleated cell type that results from exclusion of the nucleus from the primitive erythrocyte." [GOC:tfm] is_a: CL:0002417 ! primitive erythroid lineage cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-09-22T10:02:37Z [Term] id: CL:0002359 name: placental hematopoietic stem cell def: "A hematopoietic stem cell of the placenta. This cell type is first observed E10.5 This cell type may give rise to fetal liver hematopoietic stem cells." [GOC:tfm, ISBN:978-1-60327-346-6] is_a: CL:0002352 ! gestational hematopoietic stem cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-09-22T10:30:02Z [Term] id: CL:0002360 name: AGM hematopoietic stem cell def: "A hematopoietic stem cell from the aorta-gonad-mesonephros region of the developing embryo. First seen at E10.5 in mouse embryos. May give rise to fetal liver HSC." [GOC:tfm, ISBN:978-1-60327-346-6] is_a: CL:0002352 ! gestational hematopoietic stem cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-09-22T10:31:49Z [Term] id: CL:0002361 name: primitive erythroid progenitor def: "A progenitor cell that is capable of forming colonies of primitive erythrocytes in the blood island of the yolk sac. First arrive at E7.5 in mouse and expresses CD41." [GOC:tfm, ISBN:0813817986, PMID:20711979] synonym: "EryP-CFC" EXACT [] synonym: "inner blood island hemangioblast" EXACT [] is_a: CL:0002417 ! primitive erythroid lineage cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-09-22T10:47:28Z [Term] id: CL:0002363 name: keratocyte def: "A keratocyte is a specialized fibroblast residing in the cornea stroma that has a flattened, dendritic cell located between the lamellae with a large flattened nucleus and lengthy processes which communicate with neighboring cells. This corneal layer, representing about 85-90% of corneal thickness, is built up from highly regular collagenous lamellae and extracellular matrix components. Keratocytes play the major role in keeping it transparent, healing its wounds, and synthesizing its components. This cell type secretes collagen I, V, VI, and keratin sulfate." [GOC:tfm, ISBN:978-0-7020-2958-5] subset: eye_upper_slim subset: human_reference_atlas synonym: "corneal fibroblast" EXACT [] synonym: "corneal keratocyte" EXACT [] xref: SNOMEDCT:397052000 is_a: CL:0000057 ! fibroblast relationship: located_in UBERON:0001777 ! substantia propria of cornea property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 property_value: RO:0002175 NCBITaxon:9606 creation_date: 2010-09-22T01:57:40Z [Term] id: CL:0002364 name: cortical thymic epithelial cell def: "An epithelial cell of the cortical portion of the thymus. Epithelial cells in this region are required for positive selection of CD8-positive T cells." [GOC:tfm, PMID:18403190] subset: human_reference_atlas synonym: "cTEC" EXACT [] xref: BTO:0004562 is_a: CL:0000066 ! epithelial cell intersection_of: CL:0000066 ! epithelial cell intersection_of: part_of UBERON:0002370 ! thymus relationship: part_of UBERON:0002370 ! thymus property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 property_value: RO:0002175 NCBITaxon:9606 creation_date: 2010-09-23T03:17:12Z [Term] id: CL:0002365 name: medullary thymic epithelial cell def: "An epithelial cell of the medullary thymus. This cell type expresses a diverse range of tissue-specific antigens. This promiscuous gene expression is a cell-autonomous property of medullary epithelial cells and is maintained during the entire period of thymic T cell output." [GOC:tfm, PMID:18180458] synonym: "mTEC" EXACT [] xref: BTO:0004563 xref: NCIt:C45702 is_a: CL:0000066 ! epithelial cell relationship: located_in UBERON:0002370 ! thymus property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-09-23T03:17:14Z [Term] id: CL:0002368 name: respiratory epithelial cell def: "An endo-epithelial cell of the respiratory tract." [GOC:tfm] synonym: "airway epithelial cell" EXACT [] xref: BTO:0000419 xref: BTO:0004533 is_a: CL:0000066 ! epithelial cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-09-23T04:38:49Z [Term] id: CL:0002370 name: respiratory goblet cell def: "A simple columnar epithelial cell that secretes mucin. Rough endoplasmic reticulum, mitochondria, the nucleus, and other organelles are concentrated in the basal portion. The apical plasma membrane projects microvilli to increase surface area for secretion." [GOC:tfm, ISBN:0721662544] synonym: "respiratory mucosa goblet cells" EXACT [MP:0010863] is_a: CL:0000160 ! goblet cell relationship: part_of UBERON:0002185 ! bronchus property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-09-23T04:42:27Z [Term] id: CL:0002371 name: obsolete somatic cell def: "OBSOLETE. A cell of an organism that does not pass on its genetic material to the organism's offspring (i.e. a non-germ line cell)." [GOC:tfm, ISBN:0721662544] comment: https://github.com/obophenotype/cell-ontology/issues/1150 subset: ubprop:upper_level xref: BTO:0001268 xref: FMA:72300 xref: NCIt:C12949 xref: WBbt:0008378 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 is_obsolete: true replaced_by: CL:0000000 creation_date: 2010-09-24T09:44:42Z [Term] id: CL:0002378 name: immature Vgamma2-positive fetal thymocyte def: "A double negative thymocyte that has a T cell receptor consisting of a gamma chain containing a Vgamma2 segment, and a delta chain. This cell type is CD4-negative, CD8-negative and CD24-positive and is found in the fetal thymus." [GOC:tfm, http://www.immgen.org] comment: NOTE: currently variable immune gene segments are not represented in the OBO Foundry. Cross-product definitions were not made as a result. Also, there are three different nomenclatures for the variable gamma segments. synonym: "fetal Vgamma2+ thymocyte" BROAD [] is_a: CL:0002404 ! fetal thymocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-07T02:21:07Z [Term] id: CL:0002393 name: intermediate monocyte def: "A monocyte that has characteristics of both patrolling and inflammatory monocytes." [GOC:tfm, PMID:20628149, PMID:20870168] is_a: CL:0000576 ! monocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-04T10:52:03Z [Term] id: CL:0002394 name: CD141-positive myeloid dendritic cell def: "A myeloid dendritic cell found in the blood, lymph nodes, tonsil, bone marrow, and spleen that is CD141-positive (BDCA-3), XCR1-positive, and Clec9A-positive. This cell-type can cross-present antigen to CD8-positive T cells and can produce inteferon-beta." [GOC:dsd, GOC:tfm, PMCID:PMC2882828, PMCID:PMC2882837, PMID:17332250, PMID:20628149] comment: Markers are found in human cells. Normally they represent 3-5% of peripheral blood mDCs (human). These cells express high levels of CD283 (TLR3), are capable of producing IL-12p70 and IFN-beta upon stimulation, and inducing a TH1 response [PMCID:PMC2882828]. They are also Necl2-positive. May be human equivalent of murine CD8alpha-positive DCs. subset: human_reference_atlas is_a: CL:0000782 ! myeloid dendritic cell is_a: CL:0000784 ! plasmacytoid dendritic cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 property_value: RO:0002175 NCBITaxon:9606 creation_date: 2010-10-04T02:38:58Z [Term] id: CL:0002395 name: Gr1-high classical monocyte def: "A resident monocyte that is Gr-1 high, CD43-negative, CX3CR1-negative, CD115-positive, and B220-negative." [GOC:tfm, http://www.immgen.org/index_content.html, PMID:20628149, PMID:8890901] comment: Markers are associated with mice. The Gr epitope is used to describe this cell type is found on both Ly6c and Ly6g. However, its the Ly6c that is considered the specific marker, and thus used in the cross-product. is_a: CL:0000860 ! classical monocyte is_a: CL:0001022 ! CD115-positive monocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-04T11:26:18Z [Term] id: CL:0002396 name: CD14-low, CD16-positive monocyte def: "A patrolling monocyte that is CD14-low and CD16-positive." [GOC:tfm, PMID:20870168] comment: Markers are associated with human monocytes. subset: human_reference_atlas synonym: "non-classical monocyte, human" EXACT [] is_a: CL:0000875 ! non-classical monocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 property_value: RO:0002175 NCBITaxon:9606 creation_date: 2010-10-04T12:25:42Z [Term] id: CL:0002397 name: CD14-positive, CD16-positive monocyte def: "A CD14-positive monocyte that is also CD16-positive and CCR2-negative." [GOC:tfm, PMID:20628149, PMID:21937707, PMID:22343568] comment: This cell type is compatible with the HIPC Lyoplate markers for 'CD16+ monocyte'. Markers are associated with human cells. Note that this cell type encompasses both human intermediate monocytes (CD14+, CD16-low), and human non-classical monocytes (CD14-low, CD16+). synonym: "CD16+ monocyte" EXACT [PMID:22343568] is_a: CL:0000576 ! monocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-04T12:49:47Z [Term] id: CL:0002398 name: Gr1-positive, CD43-positive monocyte def: "An intermediate monocyte that is Gr1-positive, CD43-positive." [GOC:tfm, PMID:20628149] is_a: CL:0001022 ! CD115-positive monocyte is_a: CL:0002393 ! intermediate monocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-04T12:49:49Z [Term] id: CL:0002399 name: CD1c-positive myeloid dendritic cell def: "A myeloid dendritic cell found in the blood that is CD1c-positive." [GOC:dsd, GOC:tfm, PMID:20204387, PMID:20628149] comment: Normally represent 10-20% of peripheral blood mDCs (human). They are also CD281-positive (TLR1), CD282-positive (TLR2), CD283-positive (TLR3), CD284-positive (TLR4), CD285-positive (TLR5), CD286-positive (TLR6), CD288-positive (TLR8), and CD290-positive (TLR10) [PMID:20204387]. Upon TLR stimulation, these cells were potent producers of CXCL8 (IL-8), while producing little TNF-alpha. subset: human_reference_atlas is_a: CL:0000782 ! myeloid dendritic cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 property_value: RO:0002175 NCBITaxon:9606 creation_date: 2010-10-04T02:39:01Z [Term] id: CL:0002400 name: fraction B/C precursor B cell def: "A precursor B cell that is AA4-positive, IgM-negative, CD19-positive, CD43-positive and HSA-positive." [GOC:tfm, http://www.immgen.org/index_content.html] is_a: CL:0000817 ! precursor B cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-05T10:11:38Z [Term] id: CL:0002401 name: mature dendritic epithelial T cell precursor def: "A thymocyte that has a T cell receptor consisting of a gamma chain that has as part a Vgamma3 segment, and a delta chain. This cell type is CD4-negative, CD8-negative and CD24-negative. This cell-type is found in the fetal thymus with highest numbers occurring at E17-E18." [GOC:tfm, http://www.immgen.org/index_content.html] comment: NOTE: currently variable immune gene segments are not represented in the OBO Foundry. Cross-product definitions were not made as a result. Also, there are three different nomenclatures for the variable gamma segments. synonym: "mature DEC precursor" EXACT [] synonym: "mature DETC precursor" EXACT [] is_a: CL:0002404 ! fetal thymocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-07T02:05:46Z [Term] id: CL:0002402 name: Peyer's patch B cell def: "A resting mature B cell within the Peyer's patch that is CD19-positive, B220-positive, IgM-positive, AA4-negative, CD23-positive, CD43-negative, and CD5-negative." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "Peyers patch B cell" EXACT [] is_a: CL:0000822 ! B-2 B cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-05T11:18:03Z [Term] id: CL:0002403 name: mature Vgamma2-positive fetal thymocyte def: "A thymocyte that has a T cell receptor consisting of a gamma chain containing Vgamma2 segment, and a delta chain. This cell type is CD4-negative, CD8-negative and CD24-negative. This cell-type is found in the fetal thymus." [GOC:tfm, http://www.immgen.org/index_content.html] comment: NOTE: currently variable immune gene segments are not represented in the OBO Foundry. Cross-product definitions were not made as a result. Also, there are three different nomenclatures for the variable gamma segments. synonym: "fetal Vgamma2-positive" EXACT [] is_a: CL:0002404 ! fetal thymocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-07T02:24:36Z [Term] id: CL:0002404 name: fetal thymocyte def: "A thymocyte found in the fetal thymus." [GOC:tfm] is_a: CL:0000893 ! thymocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-07T02:28:25Z [Term] id: CL:0002405 name: gamma-delta thymocyte def: "A post-natal thymocyte expressing components of the gamma-delta T cell receptor. This cell type is always double-negative (i.e. CD4-negative, CD8-negative)." [GOC:tfm, PMID:20725107] synonym: "gammadelta thymocyte" EXACT [] synonym: "gd thymocyte" EXACT [] is_a: CL:0000798 ! gamma-delta T cell is_a: CL:0002489 ! double negative thymocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-07T02:33:39Z [Term] id: CL:0002406 name: immature Vgamma2-positive thymocyte def: "A double negative post-natal thymocyte that has a T cell receptor consisting of a gamma chain containing a Vgamma2 segment, and a delta chain. This cell type is CD4-negative, CD8-negative and CD24-positive." [GOC:tfm, http://www.immgen.org] comment: NOTE: currently variable immune gene segments are not represented in the OBO Foundry. Cross-product definitions were not made as a result. Also, there are three different nomenclatures for the variable gamma segments. synonym: "Vgamma2-positive thymocyte" BROAD [] is_a: CL:0002405 ! gamma-delta thymocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-07T02:53:44Z [Term] id: CL:0002407 name: mature Vgamma2-positive thymocyte def: "A thymocyte that has a T cell receptor consisting of a gamma chain containing Vgamma2 segment, and a delta chain. This cell type is CD4-negative, CD8-negative and CD24-negative." [GOC:tfm, http://www.immgen.org/index_content.html] comment: NOTE: currently variable immune gene segments are not represented in the OBO Foundry. Cross-product definitions were not made as a result. Also, there are three different nomenclatures for the variable gamma segments. synonym: "Vgamma2-positive" EXACT [] is_a: CL:0002405 ! gamma-delta thymocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-07T02:53:48Z [Term] id: CL:0002408 name: immature Vgamma2-negative thymocyte def: "A double negative post-natal thymocyte that has a T cell receptor consisting of a gamma chain that does not contain a Vgamma2 segment, and a delta chain. This cell type is CD4-negative, CD8-negative and CD24-positive." [GOC:tfm, http://www.immgen.org] comment: NOTE: currently variable immune gene segments are not represented in the OBO Foundry. Cross-product definitions were not made as a result. Also, there are three different nomenclatures for the variable gamma segments. synonym: "Vgamma2-negative thymocyte" BROAD [] is_a: CL:0002405 ! gamma-delta thymocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-07T02:59:05Z [Term] id: CL:0002409 name: mature Vgamma2-negative thymocyte def: "A thymocyte that has a T cell receptor consisting of a gamma chain that does not contain the Vgamma2 segment, and a delta chain. This cell type is CD4-negative, CD8-negative and CD24-negative." [GOC:tfm, http://www.immgen.org/index_content.html] comment: NOTE: currently variable immune gene segments are not represented in the OBO Foundry. Cross-product definitions were not made as a result. Also, there are three different nomenclatures for the variable gamma segments. synonym: "Vgamma2-negative" EXACT [] is_a: CL:0002405 ! gamma-delta thymocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-07T02:59:08Z [Term] id: CL:0002410 name: pancreatic stellate cell def: "A cell that is found in the periacinar space of the exocrine pancreas and in perivascular and periductal regions of the pancreas, and has long cytoplasmic processes that encircle the base of the acinus. Expresses several intermediate filament proteins including vimentin and nestin. Shares many of the characteristics of hepatatic stellate cells, but not stellate cells of the central nervous system. Upon activation, this cell type undergoes morphological and gene expression changes that make the cell suggestive of being a type of myofibroblast." [GOC:mah, GOC:tfm, PMID:17200706] subset: human_reference_atlas synonym: "pancreas stellate cell" EXACT [] synonym: "PaSC" EXACT [] xref: GOC:mah xref: GOC:tfm xref: MESH:D058954 xref: PMID:17200706 is_a: CL:0000057 ! fibroblast is_a: EFO:0002966 ! pancreatic cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 property_value: RO:0002175 NCBITaxon:9606 creation_date: 2010-11-10T09:40:33Z [Term] id: CL:0002411 name: Vgamma1.1-positive, Vdelta6.3-negative thymocyte def: "A gamma-delta receptor that expresses Vgamma1.1 but does not express Vdelta6.3 chains in the T-cell receptor." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "Vg1.1-positive, Vd6.3-negative T cell" EXACT [] is_a: CL:0002405 ! gamma-delta thymocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-07T03:07:44Z [Term] id: CL:0002412 name: Vgamma1.1-positive, Vdelta6.3-positive thymocyte def: "A gamma-delta receptor that expresses Vgamma1.1-Vdelta6.3 chains in the T-cell receptor." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "Vg1.1+Vd6.3+ T cell" EXACT [] is_a: CL:0002405 ! gamma-delta thymocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-07T03:03:00Z [Term] id: CL:0002413 name: mature Vgamma1.1-positive, Vdelta6.3-negative thymocyte def: "A Vgamma1.1-positive, Vdelta6.3-negative thymocyte that is CD24-negative." [GOC:tfm, http://www.immgen.org] synonym: "mature Vg1.1-positive, Vd6.3-negative T cell" RELATED [] is_a: CL:0002411 ! Vgamma1.1-positive, Vdelta6.3-negative thymocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-07T03:10:32Z [Term] id: CL:0002414 name: immature Vgamma1.1-positive, Vdelta6.3-negative thymocyte def: "A Vgamma1.1-positive, Vdelta6.3-negative thymocyte that is CD24-positive." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "immature Vg1.1-positive, Vd6.3-negative T cell" RELATED [] is_a: CL:0002411 ! Vgamma1.1-positive, Vdelta6.3-negative thymocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-07T03:10:35Z [Term] id: CL:0002415 name: immature Vgamma1.1-positive, Vdelta6.3-positive thymocyte def: "A Vgamma1.1-positive, Vdelta6.3-positive thymocyte that is CD24-positive." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "immature Vg1.1+Vd6.3+ T cell" EXACT [] is_a: CL:0002412 ! Vgamma1.1-positive, Vdelta6.3-positive thymocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-07T03:10:39Z [Term] id: CL:0002416 name: mature Vgamma1.1-positive, Vdelta6.3-positive thymocyte def: "A Vgamma1.1-positive, Vdelta6.3-positive thymocyte that is CD24-negative." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "mature Vg1.1+Vd6.3+ T cell" EXACT [] is_a: CL:0002412 ! Vgamma1.1-positive, Vdelta6.3-positive thymocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-07T03:10:41Z [Term] id: CL:0002417 name: primitive erythroid lineage cell def: "An immature or mature cell of the first erythroid lineage to arise during embryonic development." [GOC:tfm] is_a: CL:0000764 ! erythroid lineage cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-12T11:22:41Z [Term] id: CL:0002419 name: mature T cell def: "A T cell that expresses a T cell receptor complex and has completed T cell selection." [GOC:tfm] synonym: "CD3e-positive T cell" EXACT [] synonym: "CD3epsilon T cell" RELATED [] synonym: "mature T-cell" EXACT [] is_a: CL:0000084 ! T cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-12T01:56:15Z [Term] id: CL:0002420 name: immature T cell def: "A T cell that has not completed T cell selection." [GOC:tfm] subset: blood_and_immune_upper_slim synonym: "immature T-cell" EXACT [] xref: BTO:0001372 xref: CALOHA:TS-1042 is_a: CL:0000084 ! T cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-12T01:56:17Z [Term] id: CL:0002421 name: nucleated reticulocyte def: "A reticulocyte that retains the nucleus and other organelles. Found in birds, fish, amphibians and reptiles." [GOC:tfm, PMID:18182572, PMID:9011180, PMID:9046052] is_a: CL:0000558 ! reticulocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-15T09:24:05Z [Term] id: CL:0002422 name: enucleated reticulocyte def: "A reticulocyte lacking a nucleus and showing a basophilic reticulum under vital staining due to the presence of ribosomes." [GOC:tfm, ISBN:0-12203-052-4, ISBN:0721601464] xref: CALOHA:TS-0864 xref: FMA:66785 is_a: CL:0000558 ! reticulocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-15T09:24:08Z [Term] id: CL:0002423 name: DN2a thymocyte def: "A DN2 thymocyte that is Kit-hi." [GOC:tfm, PMID:20595614] comment: Observed in mice. There is growing evidence that molecular markers characterizing double negative thymocytes are different across species, especially in mouse versus human thymus. If in doubt, please consider using CL:0002489 'double negative thymocyte'. is_a: CL:0000806 ! DN2 thymocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-21T10:12:05Z [Term] id: CL:0002424 name: DN2b thymocyte def: "A DN2 thymocyte that is Kit-low." [GOC:tfm, PMID:20595614] comment: Observed in mice. There is growing evidence that molecular markers characterizing double negative thymocytes are different across species, especially in mouse versus human thymus. If in doubt, please consider using CL:0002489 'double negative thymocyte'. is_a: CL:0000806 ! DN2 thymocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-21T10:12:08Z [Term] id: CL:0002425 name: early T lineage precursor def: "A pro-T cell that is lin-negative, CD25-negative, CD127-negative, CD44-positive and kit-positive." [GOC:dsd, GOC:tfm, http://www.immgen.org/index_content.html, PMID:16551251] comment: ETPs are reportedly CD1a-negative, CD4-negative, CD7-positive, CD8a-negative, CD8b-negative, CD33-low, CD34-high, CD38-low, CD45RA-positive, and CD45RO-negative. subset: human_reference_atlas synonym: "ETP" EXACT [] synonym: "preT.ETP.Th" EXACT [] is_a: CL:0000827 ! pro-T cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 property_value: RO:0002175 NCBITaxon:9606 creation_date: 2010-10-21T01:16:24Z [Term] id: CL:0002426 name: CD11b-positive, CD27-positive natural killer cell, mouse def: "A mature natural killer cell that is CD11b-positive and CD27-positive." [GOC:tfm, http://www.immgen.org/index_content.html] comment: A natural killer cell that is NK1.1-positive, CD11b-positive, and CD27-positive. is_a: CL:0002438 ! NK1.1-positive natural killer cell, mouse property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-25T03:07:59Z [Term] id: CL:0002427 name: resting double-positive thymocyte def: "A double-positive, alpha-beta thymocyte that is small and not proliferating." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "T.DP.sm.Th" EXACT [] is_a: CL:0000809 ! double-positive, alpha-beta thymocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-21T01:59:06Z [Term] id: CL:0002428 name: double-positive blast def: "A double-positive thymocyte that is large (i.e. has a high forward scatter signal in flow cytometry) and is actively proliferating." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "activated double-positive thymocyte" EXACT [] synonym: "T.DPb.Th" EXACT [] is_a: CL:0000809 ! double-positive, alpha-beta thymocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-21T01:59:11Z [Term] id: CL:0002429 name: CD69-positive double-positive thymocyte def: "A double-positive thymocyte that is CD69-positive and has begun positive selection." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "T.DP69+.Th" EXACT [] is_a: CL:0000809 ! double-positive, alpha-beta thymocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-21T02:11:52Z [Term] id: CL:0002430 name: CD4-intermediate, CD8-positive double-positive thymocyte def: "A double-positive thymocyte that is undergoing positive selection, has high expression of the alpha-beta T cell receptor, is CD69-positive, and is in the process of down regulating the CD4 co-receptor." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "T.4int8+.Th" EXACT [] synonym: "T_4int8+_Th" EXACT [] is_a: CL:0000809 ! double-positive, alpha-beta thymocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-21T02:29:19Z [Term] id: CL:0002431 name: CD4-positive, CD8-intermediate double-positive thymocyte def: "A double-positive thymocyte that is undergoing positive selection, has high expression of the alpha-beta T cell receptor, is CD69-positive, and is in the process of down regulating the CD8 co-receptor." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "T.4+8int.Th" EXACT [] synonym: "T_4+8int_Th" EXACT [] is_a: CL:0000809 ! double-positive, alpha-beta thymocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-21T02:29:23Z [Term] id: CL:0002432 name: CD24-positive, CD4 single-positive thymocyte def: "A CD4-positive, CD8-negative thymocyte that is CD24-positive and expresses high levels of the alpha-beta T cell receptor." [GOC:tfm, http://www.immgen.org/index_content.html] comment: Described in the immgene database as being CD24-intermediate. synonym: "CD24-positive, CD4 single-positive semimature thymocyte" EXACT [] synonym: "T.4SP24int.Th" EXACT [] is_a: CL:0000810 ! CD4-positive, alpha-beta thymocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-21T02:43:52Z [Term] id: CL:0002433 name: CD69-positive, CD4-positive single-positive thymocyte def: "A CD4-positive, CD8-negative thymocyte that expresses high levels of the alpha-beta T cell receptor and is CD69-positive." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "intermediate CD4-single-positive" EXACT [] synonym: "T.4SP69+.Th" EXACT [] is_a: CL:0000810 ! CD4-positive, alpha-beta thymocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-21T02:46:02Z [Term] id: CL:0002434 name: CD24-positive, CD8 single-positive thymocyte def: "A CD8-positive, CD4-negative thymocyte that is CD24-positive and expresses high levels of the alpha-beta T cell receptor." [GOC:tfm, http://www.immgen.org/index_content.html] comment: Described in the immgene database as being CD24-intermediate. synonym: "CD24-positive, CD8 single-positive semimature thymocyte" EXACT [] synonym: "T.8SP24int.Th" EXACT [] is_a: CL:0000811 ! CD8-positive, alpha-beta thymocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-21T02:59:10Z [Term] id: CL:0002435 name: CD69-positive, CD8-positive single-positive thymocyte def: "A CD8-positive, CD4-negative thymocyte that expresses high levels of the alpha-beta T cell receptor and is CD69-positive." [GOC:tfm, http://www.immgen.org/index_content.html, https://orcid.org/0000-0001-5208-3432] synonym: "intermediate CD8-single-positive" EXACT [] synonym: "T.8SP69+.Th" EXACT [] is_a: CL:0000811 ! CD8-positive, alpha-beta thymocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-21T02:59:14Z [Term] id: CL:0002436 name: mature CD4 single-positive thymocyte def: "A mature CD4-positive, CD8-negative alpha-beta T cell found in the thymus that is CD24-low and has high expression of the T cell receptor." [GOC:tfm, http://www.immgen.org/index_content.html] subset: human_reference_atlas synonym: "T.4SP24-.Th" RELATED abbreviation [] is_a: CL:0000624 ! CD4-positive, alpha-beta T cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 property_value: RO:0002175 NCBITaxon:9606 creation_date: 2010-10-21T03:31:19Z [Term] id: CL:0002437 name: mature CD8 single-positive thymocyte def: "A mature CD8-positive, CD4-negative alpha-beta T cell found in the thymus that is CD24-low and has high expression of the T cell receptor." [GOC:tfm, http://www.immgen.org/index_content.html] subset: human_reference_atlas synonym: "T.8SP24-.Th" EXACT [] is_a: CL:0000625 ! CD8-positive, alpha-beta T cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 property_value: RO:0002175 NCBITaxon:9606 creation_date: 2010-10-21T03:51:50Z [Term] id: CL:0002438 name: NK1.1-positive natural killer cell, mouse def: "A mature NK cell that is NK1.1-positive." [GOC:tfm] comment: Note: Nk1.1 expression is restricted to C57BL strains of laboratory mice. synonym: "NK.sp" EXACT [] synonym: "NK1.1-positive NK cell" EXACT [] is_a: CL:0000824 ! mature natural killer cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-25T03:18:04Z [Term] id: CL:0002439 name: NKGA2-positive natural killer cell, mouse def: "A NK1.1-positive T cell that is NKGA2-positive." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "NK.G2A+.SP" EXACT [] is_a: CL:0002438 ! NK1.1-positive natural killer cell, mouse property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-25T03:31:09Z [Term] id: CL:0002440 name: Ly49D-positive natural killer cell, mouse def: "A NK1.1-positive T cell that is Ly49D-positive." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "NK.49D+.Sp" EXACT [] is_a: CL:0002438 ! NK1.1-positive natural killer cell, mouse property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-25T03:36:19Z [Term] id: CL:0002441 name: CD94-positive natural killer cell, mouse def: "A NK1.1-positive T cell that is CD94-positive." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "NK.94+.Sp" EXACT [] is_a: CL:0002438 ! NK1.1-positive natural killer cell, mouse property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-25T03:36:28Z [Term] id: CL:0002442 name: CD94-negative, Ly49CI-negative natural killer cell, mouse def: "A NK1.1-positive T cell that is CD94-negative and Ly49Cl-negative." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "CD94- Ly49I-negative NK cell" EXACT [] synonym: "NK.49Cl-94-.Sp" EXACT [] is_a: CL:0000623 ! natural killer cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-25T03:56:21Z [Term] id: CL:0002443 name: Ly49CI-positive natural killer cell, mouse def: "A NK1.1-positive T cell that is Ly49Cl-positive." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "Ly49I-positive NK cell" EXACT [] synonym: "NK.49Cl+.Sp" EXACT [] is_a: CL:0002438 ! NK1.1-positive natural killer cell, mouse property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-25T03:36:38Z [Term] id: CL:0002444 name: Ly49H-positive natural killer cell, mouse def: "A NK1.1-positive T cell that is Ly49H-positive." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "LyH49H-positive" EXACT [] is_a: CL:0002438 ! NK1.1-positive natural killer cell, mouse property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-25T03:36:43Z [Term] id: CL:0002445 name: Ly49D-negative natural killer cell, mouse def: "A NK1.1-positive T cell that is Ly49D-negative." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "NK.49D-.Sp" EXACT [] is_a: CL:0002438 ! NK1.1-positive natural killer cell, mouse property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-25T03:39:02Z [Term] id: CL:0002446 name: Ly49CI-negative natural killer cell, mouse def: "A NK1.1-positive T cell that is Ly49Cl-negative." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "Ly49I-negative NK cell" EXACT [] synonym: "NK.49Cl-.Sp" EXACT [] is_a: CL:0002438 ! NK1.1-positive natural killer cell, mouse property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-25T03:52:04Z [Term] id: CL:0002447 name: CD94-negative natural killer cell, mouse def: "A NK1.1-positive T cell that is CD94-negative." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "NK.94-.Sp" EXACT [] is_a: CL:0002438 ! NK1.1-positive natural killer cell, mouse property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-25T03:54:18Z [Term] id: CL:0002448 name: Ly49H-negative natural killer cell, mouse def: "A NK1.1-positive T cell that is Ly49H-negative." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "LyH49H-negative" EXACT [] is_a: CL:0002438 ! NK1.1-positive natural killer cell, mouse property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-25T03:42:42Z [Term] id: CL:0002449 name: CD94-positive Ly49CI-positive natural killer cell, mouse def: "A NK1.1-positive T cell that is CD94-positive and Ly49Cl-positive." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "NK.49Cl+94+.Sp" EXACT [] is_a: CL:0002441 ! CD94-positive natural killer cell, mouse is_a: CL:0002443 ! Ly49CI-positive natural killer cell, mouse property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-10-25T03:56:27Z [Term] id: CL:0002451 name: mammary stem cell def: "A multi-fate stem cell that is the source of cells for growth of the mammary gland during puberty and gestation. This cell type gives rise to both the luminal and myoepithelial cell types of the gland, and have been shown to have the ability to regenerate the entire organ in mice. This cell type also plays an important role in carcinogenesis of the breast. This cell type is Lin-, CD24-positive, CD29-hi." [GOC:hjd, GOC:tfm, PMID:15987436, PMID:16397499, PMID:17851544] is_a: CL:0000048 ! multi fate stem cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-11-10T01:46:51Z [Term] id: CL:0002453 name: oligodendrocyte precursor cell def: "A progenitor cell of the central nervous system that can differentiate into oligodendrocytes or type-2 astrocytes. This cell originates from multiple structures within the developing brain including the medial ganglion eminence and the lateral ganglionic eminence. These cells migrate throughout the central nervous system and persist into adulthood where they play an important role in remyelination of injured neurons." [GOC:tfm, PMID:10704434, PMID:11756508, PMID:20142420, PMID:2182078, PMID:24133281, PMID:9826671] comment: This cell type can be purified from optic nerves and other regions of the embryonic, postnatal and adult rat CNS and can be differentiated in vitro to oligodendrocytes and type-2 astrocytes. Some references use the terms 'oligodendrocyte precursor cell' and 'oligodendrocyte type-2 astrocyte (O-2A) progenitor' to refer to the same entity (e.g., PMID:10704434), while others describe an oligodendrocyte type-2 astrocyte (O-2A) progenitor cell as the precurosr to oligodendrocyte- and type-2 astrocyte- progenitor cells (e.g, ISBN:9780702028991). {xref="PMID:10704434", xref="ISBN:9780702028991", xref="PMID:2182078"} subset: human_reference_atlas synonym: "O-2A/OPC" RELATED abbreviation [PMID:24133281] synonym: "O2A/OPC" RELATED abbreviation [PMID:11756508] synonym: "oligodendrocyte-type 2 astrocyte (O-2A) progenitor cell" BROAD [PMID:2253328] synonym: "oligodendrocyte/type-2 astrocyte progenitor cell" BROAD [PMID:24133281] {http://purl.org/dc/terms/contributor="https://orcid.org/0000-0002-0819-0473"} xref: GOC:tfm xref: MESH:D000073637 xref: PMID:2014242 is_a: CL:0000123 ! neuron associated cell (sensu Vertebrata) property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-1773-2692 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 property_value: RO:0002175 NCBITaxon:9606 creation_date: 2010-11-10T02:51:34Z [Term] id: CL:0002454 name: Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell def: "Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell is a conventional dendritic cell that is CD11b-positive, CD4-negative, CD8_alpha-negative and is CD205-positive." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "DC.8-4-11b+" EXACT [] synonym: "spleen double-negative dendritic cell" EXACT [] is_a: CL:0002465 ! CD11b-positive dendritic cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-11-22T01:10:28Z [Term] id: CL:0002455 name: CD8_alpha-negative plasmacytoid dendritic cell def: "A CD11c-low plasmacytoid dendritic cell that is CD8alpha-negative and CD4-positive." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "DC.pDC.8-" EXACT [] is_a: CL:0000989 ! CD11c-low plasmacytoid dendritic cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-11-22T01:27:37Z [Term] id: CL:0002456 name: CD8_alpha-positive plasmacytoid dendritic cell def: "A CD11c-low plasmacytoid dendritic cell that is CD8alpha-positive and CD4-positive." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "DC.pDC.8+" EXACT [] is_a: CL:0000989 ! CD11c-low plasmacytoid dendritic cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-11-22T01:23:07Z [Term] id: CL:0002457 name: epidermal Langerhans cell def: "A Langerhans cell that is in the epidermis and is CD45-positive, MHCII-positive, and CD11b-positive." [GOC:tfm, http://www.immgen.org/index_content.html] subset: human_reference_atlas xref: SNOMEDCT:127854005 is_a: CL:0000453 ! Langerhans cell is_a: CL:0002465 ! CD11b-positive dendritic cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 property_value: RO:0002175 NCBITaxon:9606 creation_date: 2010-11-22T03:57:57Z [Term] id: CL:0002458 name: langerin-positive dermal dendritic cell def: "A dermal dendritic cell that is langerin-positive and CD103-positive." [GOC:tfm, http://www.immgen.org/index_content.html] is_a: CL:0001006 ! dermal dendritic cell is_a: CL:0002461 ! CD103-positive dendritic cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-11-22T04:06:22Z [Term] id: CL:0002459 name: langerin-negative dermal dendritic cell def: "A dermal dendritic cell that is langerin-negative, CD103-negative, and CD11b-positive." [GOC:tfm, http://www.immgen.org/index_content.html] is_a: CL:0001006 ! dermal dendritic cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-11-22T04:09:44Z [Term] id: CL:0002460 name: CD8alpha-negative thymic conventional dendritic cell def: "A conventional thymic dendritic cell that is CD8alpha-negative." [GOC:tfm, http://www.immgen.org/index_content.html, PMID:19273629] subset: human_reference_atlas synonym: "DC.8-.Th" EXACT [] is_a: CL:0000941 ! thymic conventional dendritic cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 property_value: RO:0002175 NCBITaxon:9606 creation_date: 2010-11-23T10:58:53Z [Term] id: CL:0002461 name: CD103-positive dendritic cell def: "A conventional dendritic cell that is CD103-positive. This cell type is usually found in non-lymphoid tissue." [GOC:tfm, http://www.immgen.org/index_content.html] is_a: CL:0000766 ! myeloid leukocyte is_a: CL:0000990 ! conventional dendritic cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-11-23T01:32:43Z [Term] id: CL:0002462 name: adipose dendritic cell def: "A F4/80-negative dendritic cell located in adipose tissue." [GOC:tfm, http://www.immgen.org/index_content.html] is_a: CL:0000766 ! myeloid leukocyte is_a: CL:0000990 ! conventional dendritic cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-11-23T01:38:21Z [Term] id: CL:0002463 name: SIRPa-positive adipose dendritic cell def: "An adipose dendritic cell that is SIRPa-positive." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "DC.SIRPa+.Ad" EXACT [] is_a: CL:0002462 ! adipose dendritic cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-11-23T01:40:44Z [Term] id: CL:0002464 name: SIRPa-negative adipose dendritic cell def: "An adipose dendritic cell that is SIRPa-negative." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "DC.SIRPa-.Ad" EXACT [] is_a: CL:0002462 ! adipose dendritic cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-11-23T01:40:46Z [Term] id: CL:0002465 name: CD11b-positive dendritic cell def: "A conventional dendritic cell that expresses CD11b (ITGAM)." [GOC:tfm, http://www.immgen.org/index_content.html] is_a: CL:0000990 ! conventional dendritic cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-11-23T01:50:05Z [Term] id: CL:0002466 name: small intestine serosal dendritic cell def: "A CD11b-positive dendritic cell located in the serosal portion of the small intestine epithelium. This cell type is CD45-positive, MHC-II-positive, CD11c-low, CD103-negative." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "DC.11cloSer.SI" EXACT [] is_a: CL:0002465 ! CD11b-positive dendritic cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-11-23T02:00:21Z [Term] id: CL:0002467 name: Gr1-high myeloid suppressor cell def: "A myeloid suppressor cell that is Gr1-high and CD11c-negative." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "MDS.Gr1hi" EXACT [] is_a: CL:0000889 ! myeloid suppressor cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-11-23T02:15:12Z [Term] id: CL:0002468 name: Gr1-low myeloid suppressor cell def: "A myeloid suppressor cell that is Gr1-low and CD11c-positive." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "MDS.Gr1lo" EXACT [] is_a: CL:0000889 ! myeloid suppressor cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-11-23T02:19:43Z [Term] id: CL:0002469 name: MHC-II-negative classical monocyte def: "Gr1-high monocyte that lacks MHC-II receptor complex." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "Mo.6C+II-" EXACT [] is_a: CL:0002395 ! Gr1-high classical monocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-11-23T03:27:12Z [Term] id: CL:0002470 name: MHC-II-positive classical monocyte def: "Gr1-high monocyte that has a MHC-II receptor complex." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "Mo.6c+II" EXACT [] is_a: CL:0002395 ! Gr1-high classical monocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-11-23T03:30:21Z [Term] id: CL:0002471 name: MHC-II-negative non-classical monocyte def: "Gr1-low non-classical monocyte that lacks expression of a MHC-II complex." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "Mo.6C-II-" EXACT [] is_a: CL:0002058 ! Gr1-low non-classical monocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-11-23T03:38:15Z [Term] id: CL:0002472 name: MHC-II-low non-classical monocyte def: "Gr1-low non-classical monocyte that has low to intermediate expression of the MHC-II complex." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "Mo.6C-IIint" EXACT [] is_a: CL:0002058 ! Gr1-low non-classical monocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-11-23T03:47:53Z [Term] id: CL:0002473 name: MHC-II-high non-classical monocyte def: "Gr1-low non-classical monocyte that has high surface expression of a MHC-II complex." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "Mo.6C-II+" EXACT [] is_a: CL:0002058 ! Gr1-low non-classical monocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-11-23T03:47:55Z [Term] id: CL:0002474 name: lymphoid MHC-II-negative classical monocyte def: "A MHC-II-negative classical monocyte located in lymphoid tissue that is F4/80-positive, CD11c-negative, and CD11b-high." [GOC:tfm, http://www.immgen.org/index_content.html] is_a: CL:0002469 ! MHC-II-negative classical monocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-11-23T04:00:52Z [Term] id: CL:0002475 name: lymphoid MHC-II-negative non-classical monocyte def: "A MHC-II-negative classical monocyte located in lymphoid tissue that is F4/80-positive, CD11c-intermediate, and CD11b-high." [GOC:tfm, http://www.immgen.org/index_content.html] is_a: CL:0002471 ! MHC-II-negative non-classical monocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-11-23T04:09:09Z [Term] id: CL:0002476 name: bone marrow macrophage def: "A tissue-resident macrophage located in the bone marrow. This cell type is B220-negative, CD3e-negative, Ly-6C-negative, CD115-positive, F4/80-positive." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "MF.BM" RELATED abbreviation [] xref: BTO:0004732 is_a: CL:0000864 ! tissue-resident macrophage is_a: CL:0002092 ! bone marrow cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-11-23T04:19:25Z [Term] id: CL:0002477 name: adipose macrophage def: "A macrophage located in adipose tissue that is CD45-positive, CD11c-positive, and SIRPa-positive." [GOC:tfm] is_a: CL:0000864 ! tissue-resident macrophage property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-11-23T04:31:28Z [Term] id: CL:0002478 name: F4/80-negative adipose macrophage def: "An adipose macrophage that does not express F4/80but is MHC-II-positive. This cell type exhibits autofluorescence under typical flow cyometry conditions." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "MF.Autofl.Ad" EXACT [] is_a: CL:0002477 ! adipose macrophage property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-11-23T04:40:50Z [Term] id: CL:0002479 name: F4/80-positive adipose macrophage def: "An adipose macrophage that does not express MHC-II but is F4/80-positive." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "MF.F480+.Ad" EXACT [] is_a: CL:0002477 ! adipose macrophage property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-11-23T04:35:53Z [Term] id: CL:0002489 name: double negative thymocyte def: "A thymocyte that lacks expression of CD4 and CD8." [GOC:tfm, MP:0002407] comment: These are precursors to mature T cells; normally, they do not circulate, but are found in the thymus and they have not undergone rearrangement of the alpha and beta T cell receptor genes. synonym: "CD4-CD8- T cell" EXACT [MP:0002407] synonym: "double negative T cell" EXACT [] is_a: CL:0000893 ! thymocyte property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-12-06T03:03:38Z [Term] id: CL:0002496 name: intraepithelial lymphocyte def: "A T cell that is located in the intestinal epithelium and is capable of a mucosal immune response." [GOC:tfm, MP:0008894] synonym: "IEL" EXACT [] synonym: "intraepithelial T cell" EXACT [] synonym: "intraepithelial T-cell" EXACT [] xref: MESH:D000075942 is_a: CL:0002419 ! mature T cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2010-12-07T09:54:50Z [Term] id: CL:0002505 name: liver CD103-negative dendritic cell def: "A CD11b-positive dendritic cell that is CD11b-high, CD45-positive, MHC-II-positive and CD103-negative." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "DC.103-11b+.Lv" EXACT [] is_a: CL:0002454 ! Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2011-01-21T01:27:41Z [Term] id: CL:0002506 name: liver CD103-positive dendritic cell def: "A CD11b-positive dendritic cell that is CD11b-low, CD45-positive, MHC-II-high and CD103-positive that is located in the liver." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "DC.103+11b-.Lv" EXACT [] is_a: CL:0002454 ! Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell is_a: CL:0002461 ! CD103-positive dendritic cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2011-01-21T01:27:45Z [Term] id: CL:0002507 name: langerin-positive lymph node dendritic cell def: "A dermal dendritic cell isolated from skin draining lymph nodes that is langerin-positive, MHC-II-positive, and CD4-negative and CD8a-negative." [GOC:tfm, http://www.immgen.org/index_content.html] is_a: CL:0000990 ! conventional dendritic cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2011-01-21T01:57:00Z [Term] id: CL:0002508 name: langerin-negative, CD103-negative lymph node dendritic cell def: "A dermal dendritic cell isolated from skin draining lymph nodes that is langerin-negative, MHC-II-positive, and CD4-negative and CD8a-negative." [GOC:tfm, http://www.immgen.org/index_content.html] is_a: CL:0000990 ! conventional dendritic cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2011-01-21T02:13:58Z [Term] id: CL:0002509 name: CD103-positive, langerin-positive lymph node dendritic cell def: "A langerin-positive lymph node dendritic cell that is CD103-positive and CD11b-low." [GOC:tfm, http://www.immgen.org/index_content.html] is_a: CL:0002454 ! Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell is_a: CL:0002461 ! CD103-positive dendritic cell is_a: CL:0002507 ! langerin-positive lymph node dendritic cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2011-01-21T02:07:54Z [Term] id: CL:0002510 name: CD103-negative, langerin-positive lymph node dendritic cell def: "A langerin-positive lymph node dendritic cell that is CD103-negative and CD11b-high." [GOC:tfm, http://www.immgen.org/index_content.html] is_a: CL:0002454 ! Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell is_a: CL:0002507 ! langerin-positive lymph node dendritic cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2011-01-21T02:11:14Z [Term] id: CL:0002511 name: CD11b-low, CD103-negative, langerin-negative lymph node dendritic cell def: "A langerin-negative lymph node dendritic cell that is CD103-negative and CD11b-low." [GOC:tfm, http://www.immgen.org/index_content.html] is_a: CL:0002454 ! Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell is_a: CL:0002508 ! langerin-negative, CD103-negative lymph node dendritic cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2011-01-21T02:22:15Z [Term] id: CL:0002512 name: CD11b-high, CD103-negative, langerin-negative lymph node dendritic cell def: "A langerin-negative lymph node dendritic cell that is CD103-negative and CD11b-high." [GOC:tfm, http://www.immgen.org/index_content.html] is_a: CL:0002454 ! Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell is_a: CL:0002508 ! langerin-negative, CD103-negative lymph node dendritic cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2011-01-21T02:16:21Z [Term] id: CL:0002513 name: Vgamma5-positive CD8alpha alpha positive gamma-delta intraepithelial T cell def: "A CD8alpha alpha positive gamma-delta intraepithelial T cell that expresses a TCR encoded in part by the Vgamma5 gene segment." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "tgd.vg5+.IEL" EXACT [] is_a: CL:0000802 ! CD8-alpha alpha positive, gamma-delta intraepithelial T cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2011-01-24T10:22:18Z [Term] id: CL:0002514 name: Vgamma5-negative CD8alpha alpha positive gamma-delta intraepithelial T cell def: "A CD8alpha alpha positive gamma-delta intraepithelial T cell that does not express a TCR partially encoded by the Vgamma5 gene segment." [GOC:tfm, http://www.immgen.org/index_content.html] synonym: "tgd.vg5-.IEL" EXACT [] is_a: CL:0000802 ! CD8-alpha alpha positive, gamma-delta intraepithelial T cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2011-01-24T10:25:44Z [Term] id: CL:0002526 name: CD14-positive dermal dendritic cell def: "A dermal dendritic cell that is CD1a-negative and CD14-positive." [GOC:dsd, PMID:19236899, PMID:20309010] comment: They are also CD11c-positive, CD40-positive, CD85j-positive (ILT-2), CD163-positive, CD205-positive (DEC205), CD207-negative (langerin), CD209-positive (DC-SIGN), CD274-positive (PD-L1), CD324-negative (E-cadherin), Factor XIIIa-positive, LOX-I-positive, CLEC6-positive, Dectin-1-positive, and DCIR-positive. Upon stimulation, these cells are capable of producing IL1-beta, IL6, IL8, IL10, IL12p40, IL19, IL20, IL24, TGF-beta, TNF-alpha, GM-CSF, and MCP1. They reside in the dermis. synonym: "CD14+ dermal DC" EXACT [] is_a: CL:0001006 ! dermal dendritic cell [Term] id: CL:0002527 name: immature CD14-positive dermal dendritic cell def: "An immature CD14-positive dermal dendritic cell is CD80-low, CD86-low, and MHCII-low." [GOC:dsd] is_a: CL:0001009 ! immature dermal dendritic cell is_a: CL:0002526 ! CD14-positive dermal dendritic cell [Term] id: CL:0002528 name: mature CD14-positive dermal dendritic cell def: "A mature CD14-positive dermal dendritic cell is CD80-high, CD86-high, MHCII-high and is CD83-positive." [GOC:dsd] is_a: CL:0001010 ! mature dermal dendritic cell is_a: CL:0002526 ! CD14-positive dermal dendritic cell [Term] id: CL:0002529 name: CD1a-positive dermal dendritic cell def: "A dermal dendritic cell that is CD1a-positive and CD14-negative." [GOC:dsd, PMID:20309010] comment: Reside in the dermis. They are also CD11c-positive, CD40-positive, CD207-negative (langerin), CD209-negative (DC-SIGN), and CD324-negative (E-cadherin). When activated, they are capable of producing CXCL8 (IL-8) and IL-15. Possibly a precursor of Langerhans cells or equivalent of langerin-positive dermal DCs in the mouse. synonym: "CD1a+ dermal DC" EXACT [] is_a: CL:0001006 ! dermal dendritic cell [Term] id: CL:0002530 name: immature CD1a-positive dermal dendritic cell def: "An immature CD1a-positive dermal dendritic cell is CD80-low, CD86-low, and MHCII-low." [GOC:dsd] is_a: CL:0001009 ! immature dermal dendritic cell is_a: CL:0002529 ! CD1a-positive dermal dendritic cell [Term] id: CL:0002531 name: mature CD1a-positive dermal dendritic cell def: "A mature CD1a-positive dermal dendritic cell is CD80-high, CD83-positive, CD86-high, and MHCII-high." [GOC:dsd] is_a: CL:0001010 ! mature dermal dendritic cell is_a: CL:0002529 ! CD1a-positive dermal dendritic cell [Term] id: CL:0002532 name: CD16-positive myeloid dendritic cell def: "A myeloid dendritic cell found in the blood that is CD16-positive." [GOC:dsd, PMID:17332250] comment: Normally represent 65-75% of peripheral blood mDCs (human). They are also CD281-positive (TLR1), CD282-positive (TLR2), CD284-positive (TLR4), CD285-positive (TLR5), CD286-positive (TLR6), CD288-positive (TLR8), CD289-positive (TLR9), and CD290-positive (TLR10) by RT-PCR [PMID:17332250]. Upon TLR stimulation, these cells are potent producers of TNF-alpha, while producing little CXCL8 (IL8). synonym: "CD16+ mDC" EXACT [] synonym: "CD16-mDC" EXACT [] is_a: CL:0000782 ! myeloid dendritic cell [Term] id: CL:0002533 name: immature CD16-positive myeloid dendritic cell def: "An immature CD16-positive myeloid dendritic cell is CD80-low, CD86-low, and MHCII-low." [GOC:dsd] is_a: CL:0000840 ! immature conventional dendritic cell is_a: CL:0002532 ! CD16-positive myeloid dendritic cell [Term] id: CL:0002534 name: mature CD16-positive myeloid dendritic cell def: "A mature CD16-positive myeloid dendritic cell is CD80-high, CD83-positive, CD86-high, and MHCII-high." [GOC:dsd] is_a: CL:0000841 ! mature conventional dendritic cell is_a: CL:0002532 ! CD16-positive myeloid dendritic cell [Term] id: CL:0002540 name: mesenchymal stem cell of the bone marrow def: "A mesenchymal stem cell that is part of the bone marrow." [GOC:tfm] is_a: CL:0000048 ! multi fate stem cell is_a: CL:0002092 ! bone marrow cell is_a: EFO:0000586 ! mesenchymal stem cell relationship: part_of UBERON:0002371 ! bone marrow property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2011-02-28T01:47:47Z [Term] id: CL:0002551 name: fibroblast of dermis is_a: CL:0000057 ! fibroblast relationship: part_of UBERON:0002067 ! dermis property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2011-02-28T05:05:33Z [Term] id: CL:0002553 name: fibroblast of lung def: "A fibroblast that is part of lung." [GOC:tfm] subset: human_reference_atlas xref: BTO:0000764 xref: CALOHA:TS-0575 is_a: CL:0000057 ! fibroblast is_a: EFO:0001986 ! lung structure relationship: part_of UBERON:0002048 ! lung property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 property_value: RO:0002175 NCBITaxon:9606 creation_date: 2011-02-28T05:11:03Z [Term] id: CL:0002563 name: intestinal epithelial cell def: "An epithelial cell of the intestine." [GOC:tfm] is_a: CL:0000066 ! epithelial cell intersection_of: CL:0000066 ! epithelial cell intersection_of: part_of UBERON:0000160 ! intestine relationship: part_of UBERON:0000160 ! intestine relationship: part_of UBERON:0001277 ! intestinal epithelium property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2011-03-01T05:18:31Z [Term] id: CL:0002598 name: bronchial smooth muscle cell subset: human_reference_atlas xref: BTO:0004402 is_a: CL:0000192 ! smooth muscle cell intersection_of: CL:0000192 ! smooth muscle cell intersection_of: part_of UBERON:0002185 ! bronchus relationship: part_of UBERON:0002185 ! bronchus property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 property_value: RO:0002175 NCBITaxon:9606 creation_date: 2011-03-06T05:46:39Z [Term] id: CL:0002601 name: uterine smooth muscle cell def: "A smooth muscle cell of the uterus." [GOC:tfm] is_a: CL:0000192 ! smooth muscle cell relationship: part_of UBERON:0000995 ! uterus property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2011-03-06T05:53:28Z [Term] id: CL:0002608 name: hippocampal neuron def: "A neuron with a soma found in the hippocampus." [GOC:tfm] is_a: CL:0000540 ! neuron relationship: located_in MA:0000191 ! hippocampus property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2011-03-06T07:31:49Z [Term] id: CL:0002617 name: adipocyte of breast def: "A fat cell that is part of the breast." [GOC:tfm] comment: Adipocytes found in the subcutaneous adipose tissue of breast. The breast consists of three main components, the skin, the subcutaneous adipose tissue and the functional glandular tissue that comprises both parenchyma and stroma.[CALOHA] synonym: "breast adipocyte" EXACT [] synonym: "fat cell of breast" EXACT [] xref: CALOHA:TS-2377 is_a: CL:0000136 ! fat cell relationship: part_of UBERON:0000310 ! breast property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2011-03-14T10:17:07Z [Term] id: CL:0002618 name: endothelial cell of umbilical vein def: "An endothelial cell of the umbilical vein." [GOC:tfm] xref: BTO:0004296 is_a: CL:0000071 ! blood vessel endothelial cell intersection_of: CL:0000115 ! endothelial cell intersection_of: part_of UBERON:0002066 ! umbilical vein relationship: part_of UBERON:0002066 ! umbilical vein property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2011-03-14T11:36:51Z [Term] id: CL:0002619 name: adult endothelial progenitor cell def: "An adult angioblastic cell released from the bone marrow, or from the kidney in some teleost species, capable of blood circulation and participation in angiogenesis by differentiating into blood vessel endothelial cells." [GOC:tfm, PMID:20807818, PMID:9020076, WikipediaVersioned:Endothelial_progenitor_cell&oldid=1069930016] comment: The existence of adult endothelial progenitor cells has been controversial in the past. subset: human_reference_atlas synonym: "EPC" EXACT [] is_a: CL:0000048 ! multi fate stem cell is_a: EFO:0000586 ! mesenchymal stem cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 property_value: RO:0002175 NCBITaxon:9606 property_value: seeAlso https://github.com/obophenotype/cell-ontology/issues/1410 xsd:string property_value: seeAlso https://github.com/obophenotype/cell-ontology/issues/348 xsd:string creation_date: 2011-03-14T12:11:18Z [Term] id: CL:0002633 name: respiratory basal cell def: "A basal cell in the respiratory tract." [GOC:tfm, PMID:20699479] synonym: "airway basal cell" EXACT [] synonym: "airway basal stem cell" EXACT [] is_a: CL:0000646 ! basal cell is_a: CL:0002368 ! respiratory epithelial cell relationship: part_of CL:0002368 ! respiratory epithelial cell relationship: part_of UBERON:0002185 ! bronchus property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1980-3228 creation_date: 2011-06-21T03:11:10Z [Term] id: CL:0005011 name: renal alpha-intercalated cell def: "A cuboidal epithelial cell of the kidney which secretes acid and reabsorbs base to regulate acid/base balance." [CL:CVS] comment: Type A intercalated cells are the more abundant type of intercalated cell in the outer stripe of the outer medulla in most mammalian species. {xref="PMID:25632105"} synonym: "type A intercalated cell" EXACT [PMID:25632105] synonym: "type A-IC" EXACT [PMID:25632105] is_a: CL:0000066 ! epithelial cell is_a: CL:1000497 ! kidney cell relationship: part_of UBERON:0001232 ! collecting duct of renal tubule [Term] id: CL:0005019 name: pancreatic epsilon cell def: "Ghrelin secreting cells found in the endocrine pancreas." [PMID:14970313] comment: In mammals the endocrine pancreas is called the Islets of Langerhans. subset: human_reference_atlas synonym: "pancreatic E cell" EXACT [] xref: PMID:14970313 is_a: CL:0000083 ! epithelial cell of pancreas is_a: CL:0000163 ! endocrine cell is_a: EFO:0003861 ! pancreactic component relationship: part_of UBERON:0000006 ! islet of Langerhans property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:0009004 name: retinal cell def: "Any cell in the retina, the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates." [GOC:pr] subset: general_cell_types_upper_slim xref: PMID:10702418 is_a: CL:0002319 ! neural cell relationship: located_in UBERON:0000966 ! retina [Term] id: CL:0009021 name: stromal cell of lamina propria of large intestine def: "A stromal cell found in the lamina propria of the large intestine." [http://orcid.org/0000-0003-4183-8865] subset: location_grouping is_a: CL:0000499 ! stromal cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-2825-0621 [Term] id: CL:0009022 name: stromal cell of lamina propria of small intestine def: "A stromal cell found in the lamina propria of the small intestine." [http://orcid.org/0000-0003-4183-8865] subset: location_grouping is_a: CL:0000499 ! stromal cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-2825-0621 [Term] id: CL:0009024 name: mesothelial cell of small intestine def: "A mesothelial cell that is part of the small intestine." [http://orcid.org/0000-0003-4183-8865] subset: location_grouping is_a: CL:0000077 ! mesothelial cell is_a: CL:0002563 ! intestinal epithelial cell property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-2825-0621 [Term] id: CL:1000271 name: lung ciliated cell subset: human_reference_atlas is_a: CL:0000000 ! cell relationship: part_of UBERON:0002185 ! bronchus property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:1000398 name: endothelial cell of hepatic sinusoid def: "An endothelial cell that is part of the hepatic sinusoid. These cells possess flattened areas containing perforations about 0.1 micrometers in diameter, known as fenestrae. The fenestrae are arranged in groups known as sieve plates." [GOC:tfm, PMID:3926620] subset: human_reference_atlas synonym: "endotheliocyte of hepatic sinusoid" EXACT [FMA:62911] synonym: "liver sinusoidal endothelial cell" EXACT [PMID:30348985] synonym: "LSEC" EXACT [PMID:30348985] xref: BTO:000125 xref: FMA:62911 is_a: CL:0000115 ! endothelial cell relationship: part_of UBERON:0001281 ! hepatic sinusoid property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:1000452 name: parietal epithelial cell def: "An epithelial cell that is part of the glomerular parietal epithelium." [GOC:tfm] subset: human_reference_atlas synonym: "epithelial cell of parietal layer of glomerular capsule" EXACT [FMA:70968] xref: FMA:70968 xref: KUPO:0001035 is_a: CL:0000066 ! epithelial cell is_a: CL:1000497 ! kidney cell relationship: part_of UBERON:0005750 ! glomerular parietal epithelium property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:1000488 name: cholangiocyte def: "An epithelial cell that is part of the bile duct. Cholangiocytes contribute to bile secretion via net release of bicarbonate and water. They are cuboidal epithelium in the small interlobular bile ducts, but become columnar and mucus secreting in larger bile ducts approaching the porta hepatis and the extrahepatic ducts." [GOC:tfm, PMID:16550043, PMID:18356246] synonym: "epithelial cell of bile duct" EXACT [] xref: FMA:86481 is_a: CL:0000066 ! epithelial cell relationship: part_of UBERON:0002394 ! bile duct [Term] id: CL:1000497 name: kidney cell xref: KUPO:0001010 is_a: CL:0000000 ! cell is_a: EFO:0000324 ! cell type relationship: located_in UBERON:0002113 ! kidney [Term] id: CL:1001431 name: kidney collecting duct principal cell subset: human_reference_atlas xref: KUPO:0001128 is_a: CL:0000066 ! epithelial cell is_a: CL:1000497 ! kidney cell relationship: part_of UBERON:0001232 ! collecting duct of renal tubule property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:1001567 name: lung endothelial cell subset: human_reference_atlas synonym: "endothelial cell of lung" RELATED [] synonym: "pulmonary vessel endothelial cell" RELATED [] is_a: CL:0000115 ! endothelial cell relationship: part_of UBERON:0003504 ! respiratory system blood vessel property_value: RO:0002175 NCBITaxon:9606 [Term] id: CL:2000002 name: decidual cell def: "A specialized, enlarged, connective tissue cell of the decidua with enlarged nucleus, dense membrane‐bound secretory granules and cytoplasmic accumulation of glycogen and lipid droplets. These cells develop by the transformation of endometrial stromal cells during decidualization." [BTO:0002770, NCIT:C32429, PMID:30013421, PMID:30429548, Wiki:Decidual_cells&oldid=937509751, Wiki:Decidualization&oldid=908981933] synonym: "decidua cell" EXACT [BTO:0002770, NCIT:C32429] synonym: "decidual stromal cell" EXACT [BTO:0005756, PMID:11719592] xref: BTO:0002770 xref: BTO:0005756 xref: NCIT:C32429 is_a: CL:0000349 ! extraembryonic cell is_a: CL:0000499 ! stromal cell relationship: part_of UBERON:0000453 ! decidua basalis creation_date: 2014-02-20T23:06:41Z [Term] id: CL:2000018 name: endothelial cell of coronary artery def: "Any endothelial cell of artery that is part of a coronary artery." [GOC:TermGenie] is_a: CL:0000071 ! blood vessel endothelial cell is_a: EFO:0001955 ! heart component intersection_of: CL:0000115 ! endothelial cell intersection_of: part_of UBERON:0001621 ! coronary artery relationship: part_of UBERON:0001621 ! coronary artery property_value: http://purl.org/dc/terms/contributor https://www.wikidata.org/entity/Q35563349 creation_date: 2014-06-04T17:08:47Z [Term] id: CL:2000032 alt_id: CL:0000111 [Term] id: CL:2000058 name: calvarial osteoblast def: "Any osteoblast that is part of a skull." [GOC:TermGenie] comment: http://www.sciencellonline.com/site/productInformation.php?keyword=4600 is_a: CL:0000062 ! osteoblast property_value: http://purl.org/dc/terms/contributor https://www.wikidata.org/entity/Q35563349 creation_date: 2014-10-06T19:48:30Z [Term] id: CL:2000074 name: splenocyte def: "Any leukocyte that is part of a spleen." [GOC:TermGenie] comment: Splenocytes is a vague term that refers to any one of the different white blood cell types in the spleen. This name is seen many references as such and is not explained further, necessitating a need for this terminology. is_a: CL:0000738 ! leukocyte intersection_of: CL:0000738 ! leukocyte intersection_of: part_of UBERON:0002106 ! spleen relationship: part_of UBERON:0002106 ! spleen property_value: http://purl.org/dc/terms/contributor https://www.wikidata.org/entity/Q35563349 creation_date: 2014-11-05T01:26:50Z [Term] id: CL:3000001 name: Hofbauer cell def: "Oval eosinophilic histiocytes with granules and vacuoles found in placenta, which are of mesenchymal origin, in mesoderm of the chorionic villus, particularly numerous in early pregnancy." [GOC:CellBLAST, PMID:30429548] subset: human_reference_atlas is_a: CL:0000235 ! macrophage relationship: part_of UBERON:0001987 ! placenta property_value: http://purl.org/dc/terms/contributor https://www.wikidata.org/entity/Q97529981 property_value: RO:0002175 NCBITaxon:9606 creation_date: 2019-02-18T19:41:20Z [Term] id: CLO:0000019 name: immortal cell line cell def: "A cell line cell that is expected to be capable of an unlimited number of divisions, and is thus able to support indefinite propagation in vitro as part of an immortal cell line." [] is_a: EFO:0000324 ! cell type [Term] id: CLO:0010521 name: GM08388 def: "ATAXIA-TELANGIECTASIA MUTATED GENE; ATM ATAXIA-TELANGIECTASIA; AT" [] synonym: "GM08388 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0010523 name: GM08390 def: "ATAXIA-TELANGIECTASIA MUTATED GENE; ATM ATAXIA-TELANGIECTASIA; AT" [] synonym: "GM08390 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0010526 name: GM08398 def: "APPARENTLY HEALTHY NON-FETAL TISSUE" [] synonym: "GM08398 cell" EXACT [] is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0010557 name: GM08436 def: "ATAXIA-TELANGIECTASIA; AT ATAXIA-TELANGIECTASIA MUTATED GENE; ATM" [] synonym: "GM08436 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0011234 name: GM08931 def: "ATAXIA-TELANGIECTASIA; AT" [] synonym: "GM08931 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0011235 name: GM08930 def: "ATAXIA-TELANGIECTASIA; AT" [] synonym: "GM08930 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0011237 name: GM08928 def: "ATAXIA-TELANGIECTASIA; AT" [] synonym: "GM08928 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0011391 name: GM09585 def: "ATAXIA-TELANGIECTASIA MUTATED GENE; ATM ATAXIA-TELANGIECTASIA; AT" [] synonym: "GM09585 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0011394 name: GM09583 def: "ATAXIA-TELANGIECTASIA; AT" [] synonym: "GM09583 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0011436 name: GM09581 def: "ATAXIA-TELANGIECTASIA; AT" [] synonym: "GM09581 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0011438 name: GM09579 def: "ATAXIA-TELANGIECTASIA; AT" [] synonym: "GM09579 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0012496 name: ND03432 def: "PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" [] synonym: "ND03432 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic MONDO:0005180 ! Parkinson disease relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013077 name: GM17289 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17289 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013080 name: GM17288 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17288 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0013082 name: GM17287 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17287 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0013086 name: GM17286 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17286 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013090 name: GM17285 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17285 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0013092 name: GM17284 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17284 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013094 name: GM17282 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17282 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0013095 name: GM17283 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17283 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0013096 name: GM17280 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19" [] synonym: "GM17280 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0013097 name: GM17281 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200" [] synonym: "GM17281 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0013124 name: GM17296 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17296 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013127 name: GM17295 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17295 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0013135 name: GM17291 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17291 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0013136 name: GM17292 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17292 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0013137 name: GM17293 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17293 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013138 name: GM17294 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17294 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013140 name: GM17290 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17290 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0013163 name: GM17265 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17265 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013168 name: GM17264 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17264 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0013169 name: GM17263 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17263 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013173 name: GM17262 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17262 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013176 name: GM17269 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17269 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0013177 name: GM17268 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17268 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0013179 name: GM17267 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17267 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013181 name: GM17266 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17266 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013182 name: GM17260 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17260 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013183 name: GM17261 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17261 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013193 name: GM17274 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17274 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013197 name: GM17273 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17273 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013199 name: GM17276 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17276 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0013202 name: GM17275 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17275 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013204 name: GM17278 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17278 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0013208 name: GM17277 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17277 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013210 name: GM17279 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17279 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013212 name: GM17270 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17270 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0013213 name: GM17271 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17271 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0013214 name: GM17272 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17272 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0013751 name: GM17180 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17180 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013752 name: GM17184 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17184 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013753 name: GM17183 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17183 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013754 name: GM17182 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17182 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013755 name: GM17181 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17181 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013775 name: GM17187 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17187 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013777 name: GM17188 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17188 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013781 name: GM17185 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17185 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013784 name: GM17186 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17186 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013790 name: GM17189 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17189 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013793 name: GM17191 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17191 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013794 name: GM17190 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17190 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013795 name: GM17193 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17193 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013796 name: GM17192 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17192 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013797 name: GM17195 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17195 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013798 name: GM17194 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17194 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013816 name: GM17196 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17196 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013818 name: GM17197 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17197 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013823 name: GM17198 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17198 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013826 name: GM17199 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17199 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013833 name: GM17206 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17206 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013834 name: GM17205 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" [] synonym: "GM17205 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0013835 name: GM17204 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" [] synonym: "GM17204 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013836 name: GM17203 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17203 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0013837 name: GM17202 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17202 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013839 name: GM17201 def: "CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" [] synonym: "GM17201 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0013840 name: GM17200 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17200 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0013875 name: GM17209 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" [] synonym: "GM17209 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013881 name: GM17207 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17207 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0013884 name: GM17208 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" [] synonym: "GM17208 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013885 name: GM17215 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17215 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013886 name: GM17214 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17214 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0013887 name: GM17217 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" [] synonym: "GM17217 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013888 name: GM17216 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" [] synonym: "GM17216 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013890 name: GM17211 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17211 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0013891 name: GM17210 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17210 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013893 name: GM17213 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" [] synonym: "GM17213 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013895 name: GM17212 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" [] synonym: "GM17212 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0013921 name: GM17218 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17218 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013924 name: GM17219 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17219 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0013935 name: GM17140 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" [] synonym: "GM17140 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013936 name: GM17144 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17144 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013937 name: GM17143 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17143 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013938 name: GM17142 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17142 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013939 name: GM17141 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17141 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013940 name: GM17148 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" [] synonym: "GM17148 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013941 name: GM17147 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" [] synonym: "GM17147 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013942 name: GM17146 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" [] synonym: "GM17146 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013943 name: GM17145 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" [] synonym: "GM17145 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013947 name: GM17149 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17149 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013956 name: GM17150 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17150 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013960 name: GM17155 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17155 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013961 name: GM17154 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17154 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013962 name: GM17157 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17157 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013963 name: GM17156 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17156 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013964 name: GM17159 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17159 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013965 name: GM17158 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 SNP500 PANEL" [] synonym: "GM17158 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013982 name: GM17161 def: "SNP500 PANEL HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17161 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013983 name: GM17162 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17162 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013984 name: GM17160 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17160 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013987 name: GM17168 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17168 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013989 name: GM17167 def: "SNP500 PANEL HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17167 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013990 name: GM17166 def: "SNP500 PANEL HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17166 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013993 name: GM17165 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17165 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013994 name: GM17164 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17164 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0013996 name: GM17163 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17163 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0014022 name: GM17170 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17170 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0014024 name: GM17171 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17171 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0014025 name: GM17172 def: "SNP500 PANEL HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17172 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0014026 name: GM17173 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17173 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0014028 name: GM17179 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17179 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0014029 name: GM17178 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17178 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0014033 name: GM17175 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17175 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0014034 name: GM17174 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17174 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0014037 name: GM17177 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17177 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0014039 name: GM17176 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17176 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0014327 name: GM17239 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17239 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0014330 name: GM17237 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" [] synonym: "GM17237 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0014332 name: GM17238 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17238 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0014334 name: GM17235 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17235 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0014336 name: GM17236 def: "CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" [] synonym: "GM17236 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0014338 name: GM17233 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" [] synonym: "GM17233 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0014340 name: GM17234 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17234 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0014341 name: GM17231 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17231 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0014344 name: GM17232 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" [] synonym: "GM17232 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0014347 name: GM17230 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17230 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0014356 name: GM17226 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17226 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0014358 name: GM17227 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17227 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0014359 name: GM17228 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" [] synonym: "GM17228 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0014362 name: GM17229 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" [] synonym: "GM17229 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0014366 name: GM17222 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17222 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0014367 name: GM17223 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17223 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0014369 name: GM17224 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" [] synonym: "GM17224 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0014371 name: GM17225 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" [] synonym: "GM17225 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0014375 name: GM17220 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" [] synonym: "GM17220 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0014377 name: GM17221 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" [] synonym: "GM17221 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0014388 name: GM17259 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17259 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0014389 name: GM17253 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17253 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0014390 name: GM17254 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17254 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0014391 name: GM17251 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200" [] synonym: "GM17251 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0014392 name: GM17252 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17252 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0014393 name: GM17257 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17257 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0014394 name: GM17258 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17258 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0014395 name: GM17255 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17255 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0014396 name: GM17256 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17256 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0014397 name: GM17250 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17250 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0014404 name: ND02579 def: "PARKINSON'S DISEASE PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES" [] synonym: "ND02579 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic MONDO:0005180 ! Parkinson disease relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0014408 name: GM17248 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" [] synonym: "GM17248 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0014409 name: GM17249 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" [] synonym: "GM17249 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0014410 name: GM17240 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" [] synonym: "GM17240 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0014411 name: GM17241 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" [] synonym: "GM17241 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0014412 name: GM17242 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17242 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0014413 name: GM17243 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17243 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0014414 name: GM17244 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" [] synonym: "GM17244 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0014415 name: GM17245 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" [] synonym: "GM17245 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0014416 name: GM17246 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17246 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0014417 name: GM17247 def: "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" [] synonym: "GM17247 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0014788 name: GM02783 def: "ATAXIA-TELANGIECTASIA; AT" [] synonym: "GM02783 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0014806 name: GM02767 def: "ANEUPLOID CHROMOSOME NUMBER - TRISOMY TRISOMY 21" [] synonym: "GM02767 cell" EXACT [] is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0014887 name: GM17109 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16" [] synonym: "GM17109 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0014889 name: GM17108 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" [] synonym: "GM17108 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0014896 name: GM17102 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" [] synonym: "GM17102 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0014898 name: GM17103 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" [] synonym: "GM17103 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0014900 name: GM17104 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" [] synonym: "GM17104 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0014901 name: GM17105 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" [] synonym: "GM17105 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0014902 name: GM17106 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" [] synonym: "GM17106 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0014903 name: GM17107 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" [] synonym: "GM17107 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0014942 name: GM17119 def: "UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17119 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0014943 name: GM17113 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" [] synonym: "GM17113 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0014945 name: GM17114 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8" [] synonym: "GM17114 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0014947 name: GM17111 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8" [] synonym: "GM17111 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0014948 name: GM17112 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" [] synonym: "GM17112 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0014950 name: GM17117 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17117 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0014951 name: GM17118 def: "UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17118 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0014952 name: GM17115 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" [] synonym: "GM17115 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0014953 name: GM17116 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" [] synonym: "GM17116 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0014964 name: GM17110 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8" [] synonym: "GM17110 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0015081 name: GM17132 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" [] synonym: "GM17132 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0015082 name: GM17133 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17133 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0015085 name: GM17130 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" [] synonym: "GM17130 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0015087 name: GM17131 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" [] synonym: "GM17131 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0015088 name: GM17136 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16" [] synonym: "GM17136 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0015090 name: GM17137 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" [] synonym: "GM17137 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0015093 name: GM17134 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17134 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0015094 name: GM17135 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" [] synonym: "GM17135 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0015097 name: GM17138 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" [] synonym: "GM17138 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0015098 name: GM17139 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" [] synonym: "GM17139 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0015112 name: GM17120 def: "UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17120 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0015115 name: GM17121 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" [] synonym: "GM17121 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0015117 name: GM17122 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" [] synonym: "GM17122 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0015119 name: GM17123 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" [] synonym: "GM17123 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0015121 name: GM17124 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" [] synonym: "GM17124 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0015123 name: GM17125 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17125 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0015124 name: GM17126 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17126 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0015126 name: GM17127 def: "UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17127 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0015128 name: GM17128 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" [] synonym: "GM17128 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0015130 name: GM17129 def: "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" [] synonym: "GM17129 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0015209 name: ND02852 def: "PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" [] synonym: "ND02852 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic MONDO:0005180 ! Parkinson disease relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016362 name: ND01737 def: "PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" [] synonym: "ND01737 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic MONDO:0005180 ! Parkinson disease relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016449 name: GM17852 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17852 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016450 name: GM17850 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17850 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016453 name: GM17845 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17845 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016454 name: GM17844 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17844 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016455 name: GM17847 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17847 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016456 name: GM17846 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17846 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016457 name: GM17842 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17842 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016458 name: GM17843 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17843 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016489 name: GM17798 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17798 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016490 name: GM17799 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17799 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016491 name: GM17800 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17800 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016492 name: GM17801 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17801 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016493 name: GM17796 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17796 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016494 name: GM17797 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17797 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016495 name: GM17802 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17802 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016496 name: GM17803 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17803 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016497 name: GM17804 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17804 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016498 name: GM17805 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17805 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016499 name: GM17811 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17811 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016500 name: GM17812 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17812 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016501 name: GM17809 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17809 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016502 name: GM17810 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17810 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016503 name: GM17807 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17807 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016504 name: GM17808 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17808 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016505 name: GM17806 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17806 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016506 name: GM17815 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17815 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016507 name: GM17813 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17813 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016508 name: GM17814 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17814 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016509 name: GM17816 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17816 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016510 name: GM17817 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17817 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016511 name: GM17818 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17818 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016515 name: GM17823 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17823 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016516 name: GM17824 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17824 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016517 name: GM17825 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17825 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016518 name: GM17826 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17826 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016519 name: GM17833 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17833 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016520 name: GM17835 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17835 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016521 name: GM17828 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17828 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016522 name: GM17831 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17831 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016523 name: GM17839 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17839 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016524 name: GM17840 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17840 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016525 name: GM17837 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17837 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016526 name: GM17838 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17838 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016527 name: GM17841 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17841 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016528 name: GM17827 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17827 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016554 name: GM17756 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17756 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016555 name: GM17755 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" [] synonym: "GM17755 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016558 name: GM17754 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" [] synonym: "GM17754 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016560 name: GM17753 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" [] synonym: "GM17753 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016561 name: GM17752 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17752 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016564 name: GM17749 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17749 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016565 name: GM17747 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17747 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016566 name: GM17746 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17746 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016567 name: GM17745 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17745 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016568 name: GM17744 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17744 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016593 name: GM17767 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17767 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016594 name: GM17766 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17766 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016597 name: GM17768 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17768 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016600 name: GM17762 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17762 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016601 name: GM17761 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" [] synonym: "GM17761 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016602 name: GM17765 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17765 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016604 name: GM17764 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17764 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016606 name: GM17757 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8" [] synonym: "GM17757 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016607 name: GM17759 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8" [] synonym: "GM17759 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016608 name: GM17758 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17758 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016635 name: GM17779 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17779 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016636 name: GM17776 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17776 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016638 name: GM17775 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17775 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016641 name: GM17774 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17774 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016642 name: GM17782 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17782 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016643 name: GM17780 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17780 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016645 name: GM17773 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17773 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016646 name: GM17771 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17771 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016647 name: GM17770 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17770 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016648 name: GM17769 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17769 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016672 name: GM17792 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17792 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016675 name: GM17791 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17791 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016676 name: GM17794 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17794 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016678 name: GM17793 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17793 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016682 name: GM17795 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17795 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016684 name: GM17783 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17783 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016685 name: GM17787 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17787 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016686 name: GM17785 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17785 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016687 name: GM17790 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17790 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016688 name: GM17789 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17789 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0016951 name: GM07348 def: "CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19 SNP500 PANEL HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 8 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 CEPH/UTAH PEDIGREE 1345" [] synonym: "GM07348 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0016995 name: GM17733 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16" [] synonym: "GM17733 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0017020 name: GM17741 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" [] synonym: "GM17741 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0017021 name: GM17740 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8" [] synonym: "GM17740 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0017022 name: GM17739 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" [] synonym: "GM17739 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0017023 name: GM17738 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17738 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0017024 name: GM17743 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17743 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0017025 name: GM17742 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" [] synonym: "GM17742 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0017043 name: GM17736 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16" [] synonym: "GM17736 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0017044 name: GM17737 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8" [] synonym: "GM17737 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0017045 name: GM17734 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16" [] synonym: "GM17734 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0017046 name: GM17735 def: "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16" [] synonym: "GM17735 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0018566 name: ND06449 def: "LATE ONSET PARKINSON'S DNA PANEL, AFFECTED INDIVIDUALS PARKINSON'S DISEASE" [] synonym: "ND06449 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic MONDO:0005180 ! Parkinson disease relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0019004 name: GM12264 def: "INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] CEPH/UTAH PEDIGREE 1375 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19" [] synonym: "GM12264 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0020019 name: GM11840 def: "CEPH/UTAH PEDIGREE 1349 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19" [] synonym: "GM11840 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0021459 name: AG10941 def: "BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" [] synonym: "AG10941 cell" EXACT [] is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0021565 name: AG11498 def: "LAMIN A/C; LMNA HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS" [] synonym: "AG11498 cell" EXACT [] is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0021597 name: AG11364 def: "BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" [] synonym: "AG11364 cell" EXACT [] is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0021875 name: AG10049 def: "BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" [] synonym: "AG10049 cell" EXACT [] is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0021913 name: AG09699 def: "GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" [] synonym: "AG09699 cell" EXACT [] is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0021943 name: AG09877 def: "GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" [] synonym: "AG09877 cell" EXACT [] is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0022101 name: AG13150 def: "GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" [] synonym: "AG13150 cell" EXACT [] is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0022107 name: AG13145 def: "GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" [] synonym: "AG13145 cell" EXACT [] is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0022132 name: AG13066 def: "GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" [] synonym: "AG13066 cell" EXACT [] is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0022320 name: AG14446 def: "GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" [] synonym: "AG14446 cell" EXACT [] is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0022362 name: AG11696 def: "GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" [] synonym: "AG11696 cell" EXACT [] is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0022371 name: AG11726 def: "BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" [] synonym: "AG11726 cell" EXACT [] is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0022604 name: AG11513 def: "LAMIN A/C; LMNA HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS" [] synonym: "AG11513 cell" EXACT [] is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0023783 name: GM10845 def: "HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE II) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 8 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 CEPH/UTAH PEDIGREE 1424" [] synonym: "GM10845 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0023784 name: GM10842 def: "HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 8 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE II) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 CEPH/UTAH PEDIGREE 1423" [] synonym: "GM10842 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0023785 name: GM10843 def: "CEPH/UTAH PEDIGREE 1423 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE II) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" [] synonym: "GM10843 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0023794 name: GM10832 def: "SNP500 PANEL CEPH/UTAH PEDIGREE 1413" [] synonym: "GM10832 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0023795 name: GM10833 def: "CEPH/UTAH PEDIGREE 1413 SNP500 PANEL" [] synonym: "GM10833 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0025850 name: GM00144 def: "TRANSLOCATED CHROMOSOME TRISOMY 21" [] synonym: "GM00144 cell" EXACT [] is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0026349 name: ND00259 def: "POPULATION/CONVENIENCE CONTROL" [] synonym: "ND00259 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0026399 name: ND00268 def: "POPULATION/CONVENIENCE CONTROL" [] synonym: "ND00268 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0026786 name: GM15386 def: "CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9 DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" [] synonym: "GM15386 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line [Term] id: CLO:0026789 name: GM15385 def: "DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" [] synonym: "GM15385 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line [Term] id: CLO:0027048 name: ND00397 def: "ISCHEMIC STROKE NDPT081 ISCHEMIC STROKE DNA PANEL" [] synonym: "ND00397 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0027182 name: GM15324 def: "DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" [] synonym: "GM15324 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line [Term] id: CLO:0027328 name: GM15268 def: "DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" [] synonym: "GM15268 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line [Term] id: CLO:0027391 name: GM15245 def: "DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" [] synonym: "GM15245 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line [Term] id: CLO:0027447 name: GM15242 def: "CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9 DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" [] synonym: "GM15242 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line [Term] id: CLO:0027467 name: GM15236 def: "DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" [] synonym: "GM15236 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line [Term] id: CLO:0027473 name: GM15227 def: "DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" [] synonym: "GM15227 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line [Term] id: CLO:0027483 name: GM15223 def: "DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" [] synonym: "GM15223 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line [Term] id: CLO:0027484 name: GM15224 def: "DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" [] synonym: "GM15224 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line [Term] id: CLO:0027486 name: GM15226 def: "DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" [] synonym: "GM15226 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line [Term] id: CLO:0027487 name: GM15221 def: "DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" [] synonym: "GM15221 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line [Term] id: CLO:0027491 name: GM15216 def: "DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9" [] synonym: "GM15216 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line [Term] id: CLO:0027492 name: GM15215 def: "DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" [] synonym: "GM15215 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line [Term] id: CLO:0027493 name: GM15213 def: "DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" [] synonym: "GM15213 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line [Term] id: CLO:0028103 name: GM15590 def: "DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" [] synonym: "GM15590 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line [Term] id: CLO:0028397 name: ND01173 def: "PARKINSON'S DISEASE PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES" [] synonym: "ND01173 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic MONDO:0005180 ! Parkinson disease relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0029036 name: ND06229 def: "POPULATION/CONVENIENCE CONTROL" [] synonym: "ND06229 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0029732 name: ND00051 def: "POPULATION/CONVENIENCE CONTROL" [] synonym: "ND00051 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0029916 name: GM15144 def: "DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" [] synonym: "GM15144 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line [Term] id: CLO:0030105 name: ND00022 def: "POPULATION/CONVENIENCE CONTROL" [] synonym: "ND00022 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0030305 name: GM15029 def: "DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9" [] synonym: "GM15029 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line [Term] id: CLO:0030309 name: GM15038 def: "DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" [] synonym: "GM15038 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line [Term] id: CLO:0030311 name: GM15036 def: "DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" [] synonym: "GM15036 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line [Term] id: CLO:0030324 name: GM15061 def: "DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" [] synonym: "GM15061 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line [Term] id: CLO:0030328 name: GM15056 def: "DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" [] synonym: "GM15056 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line [Term] id: CLO:0030337 name: GM15072 def: "DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" [] synonym: "GM15072 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line [Term] id: CLO:0030688 name: ND00151 def: "POPULATION/CONVENIENCE CONTROL" [] synonym: "ND00151 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031189 name: GM14381 def: "APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS" [] synonym: "GM14381 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031198 name: GM14382 def: "MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" [] synonym: "GM14382 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031201 name: GM14405 def: "MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" [] synonym: "GM14405 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031225 name: GM14414 def: "APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS" [] synonym: "GM14414 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0031226 name: GM14409 def: "NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" [] synonym: "GM14409 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0031227 name: GM14408 def: "MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" [] synonym: "GM14408 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0031228 name: GM14406 def: "NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" [] synonym: "GM14406 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031232 name: AG08904 def: "BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" [] synonym: "AG08904 cell" EXACT [] is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0031234 name: GM14439 def: "NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" [] synonym: "GM14439 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031236 name: GM14433 def: "NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" [] synonym: "GM14433 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031238 name: GM14432 def: "MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" [] synonym: "GM14432 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031239 name: GM14417 def: "MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" [] synonym: "GM14417 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0031253 name: GM14453 def: "APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS" [] synonym: "GM14453 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031254 name: GM14454 def: "NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" [] synonym: "GM14454 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031256 name: GM14455 def: "MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" [] synonym: "GM14455 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031257 name: GM14440 def: "MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" [] synonym: "GM14440 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031260 name: GM14447 def: "NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" [] synonym: "GM14447 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031261 name: GM14448 def: "MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" [] synonym: "GM14448 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031263 name: GM14452 def: "MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" [] synonym: "GM14452 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031272 name: GM14475 def: "NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" [] synonym: "GM14475 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031274 name: GM14476 def: "MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" [] synonym: "GM14476 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031275 name: GM14465 def: "NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" [] synonym: "GM14465 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031276 name: GM14467 def: "NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" [] synonym: "GM14467 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031278 name: GM14464 def: "NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" [] synonym: "GM14464 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031280 name: GM14474 def: "NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" [] synonym: "GM14474 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031281 name: GM14468 def: "MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" [] synonym: "GM14468 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031504 name: GM14501 def: "MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" [] synonym: "GM14501 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031509 name: GM14503 def: "NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" [] synonym: "GM14503 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031510 name: GM14502 def: "NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" [] synonym: "GM14502 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031516 name: GM14504 def: "MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" [] synonym: "GM14504 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031517 name: GM14507 def: "MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" [] synonym: "GM14507 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031519 name: GM14506 def: "MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" [] synonym: "GM14506 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031529 name: GM14478 def: "NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" [] synonym: "GM14478 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031531 name: GM14477 def: "NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" [] synonym: "GM14477 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031533 name: GM14481 def: "MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" [] synonym: "GM14481 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031534 name: GM14480 def: "NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" [] synonym: "GM14480 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031535 name: GM14479 def: "NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" [] synonym: "GM14479 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031580 name: GM14568 def: "MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" [] synonym: "GM14568 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0031581 name: GM14569 def: "APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS" [] synonym: "GM14569 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0031585 name: GM14581 def: "APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS" [] synonym: "GM14581 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0031600 name: GM14535 def: "APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS" [] synonym: "GM14535 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031601 name: GM14536 def: "MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" [] synonym: "GM14536 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031606 name: GM14532 def: "MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" [] synonym: "GM14532 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031607 name: GM14533 def: "NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" [] synonym: "GM14533 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031609 name: GM14509 def: "NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" [] synonym: "GM14509 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031610 name: GM14508 def: "MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" [] synonym: "GM14508 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031611 name: GM14520 def: "NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" [] synonym: "GM14520 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031612 name: GM14521 def: "NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" [] synonym: "GM14521 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0031665 name: GM14583 def: "MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" [] synonym: "GM14583 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0031666 name: GM14582 def: "MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" [] synonym: "GM14582 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0031668 name: GM14584 def: "NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" [] synonym: "GM14584 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0031953 name: GM14679 def: "NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" [] synonym: "GM14679 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0032601 name: ND04158 def: "PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" [] synonym: "ND04158 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic MONDO:0005180 ! Parkinson disease relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0032713 name: GM13649 def: "COLORECTAL CANCER, FAMILIAL" [] synonym: "GM13649 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0033199 name: GM13883 def: "ATAXIA-TELANGIECTASIA; AT" [] synonym: "GM13883 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0033570 name: AG08048 def: "BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" [] synonym: "AG08048 cell" EXACT [] is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0033577 name: AG08046 def: "BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" [] synonym: "AG08046 cell" EXACT [] is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0033628 name: GM13811 def: "ATAXIA-TELANGIECTASIA; AT" [] synonym: "GM13811 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0033747 name: ND04424 def: "PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" [] synonym: "ND04424 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic MONDO:0005180 ! Parkinson disease relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0033909 name: GM13995 def: "ATAXIA-TELANGIECTASIA; AT" [] synonym: "GM13995 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0034375 name: GM14153 def: "ATAXIA-TELANGIECTASIA; AT" [] synonym: "GM14153 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0034780 name: AG04147 def: "BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" [] synonym: "AG04147 cell" EXACT [] is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0034796 name: AG04351 def: "BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" [] synonym: "AG04351 cell" EXACT [] is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0034915 name: AG04655 def: "GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" [] synonym: "AG04655 cell" EXACT [] is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0035232 name: AG05416 def: "BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" [] synonym: "AG05416 cell" EXACT [] is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0035254 name: AG06237 def: "BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" [] synonym: "AG06237 cell" EXACT [] is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: CLO:0035579 name: AG07307 def: "BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" [] synonym: "AG07307 cell" EXACT [] is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0035608 name: AG07139 def: "GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" [] synonym: "AG07139 cell" EXACT [] is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0036460 name: GM06944 def: "TRANSLOCATED CHROMOSOME" [] synonym: "GM06944 cell" EXACT [] is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: CLO:0036870 name: GM07029 def: "INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] CEPH/UTAH PEDIGREE 1340 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19" [] synonym: "GM07029 cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: DOID:0050890 name: synucleinopathy def: "A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibers or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ]" [DOID:0050890] def: "A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ]" [] synonym: "alpha Synucleinopathies" EXACT [] synonym: "alpha synucleinopathies" RELATED [DOID:0050890] synonym: "synucleinopathies" RELATED [DOID:0050890] synonym: "synucleinopathy" EXACT [] {comment="preferred label from MONDO"} xref: MESH:D000080874 {source="MONDO:equivalentTo"} xref: MONDO:0000510 xref: UMLS:C5191670 {source="MONDO:equivalentTo"} is_a: EFO:0005772 {source="DOID:0050890", source="MONDO:Redundant"} ! neurodegenerative disease is_a: MONDO:0021179 {source="MESH:D000080874", source="UMLS:C5191670"} ! proteostasis deficiencies property_value: exactMatch DOID:0050890 property_value: exactMatch http://identifiers.org/mesh/D000080874 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C5191670 [Term] id: DOID:10113 name: trypanosomiasis def: "A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans." [] def: "Infection with protozoa of the genus trypanosoma." [MESH:D014352] synonym: "Trypanosoma caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Trypanosoma disease or disorder" EXACT [] synonym: "Trypanosoma infectious disease" EXACT [] synonym: "Trypanosomiases" RELATED [MESH:D014352] synonym: "trypanosomiasis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:10113 xref: ICD10CM:B56 {source="MONDO:equivalentTo"} xref: ICD9:086 {source="DOID:10113"} xref: ICD9:086.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10113"} xref: MESH:D014352 {source="MONDO:equivalentTo", source="DOID:10113"} xref: MeSH:D014352 xref: MONDO:0000940 xref: SCTID:78940002 {source="MONDO:equivalentTo", source="DOID:10113"} xref: SNOMEDCT:78940002 xref: UMLS:C0041227 {source="MONDO:equivalentTo", source="DOID:10113"} is_a: MONDO:0002428 {source="DOID:10113", source="MESH:D014352/inferred"} ! protozoa infectious disease property_value: exactMatch DOID:10113 property_value: exactMatch http://identifiers.org/mesh/D014352 property_value: exactMatch http://identifiers.org/snomedct/78940002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041227 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B56 [Term] id: DOID:10718 name: giardiasis def: "A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia intestinalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting." [] def: "An infection of the small intestine caused by the flagellated protozoan giardia lamblia. It is spread via contaminated food and water and by direct person-to-person contact." [MESH:D005873] synonym: "beaver feaver" EXACT [DOID:10718] synonym: "beaver fever" EXACT [] synonym: "Giardia" RELATED [] synonym: "Giardia infection" EXACT [MONDO:patterns/infectious_disease_by_agent] synonym: "Giardiases" RELATED [MESH:D005873] synonym: "giardiasis" EXACT [] {comment="preferred label from MONDO"} synonym: "infection by Giardia lamblia" EXACT [DOID:10718] synonym: "infections, Giardia" RELATED [MONDO:patterns/infectious_disease_by_agent] synonym: "Lambliases" RELATED [MESH:D005873] synonym: "lambliasis" RELATED [MESH:D005873] xref: DOID:10718 xref: ICD9:007.1 {source="DOID:10718"} xref: ICD9CM:007.1 xref: MESH:D005873 {source="MONDO:equivalentTo", source="DOID:10718"} xref: MeSH:D005873 xref: MONDO:0001103 xref: SCTID:10679007 {source="MONDO:equivalentTo", source="DOID:10718"} xref: SNOMEDCT:10679007 xref: SNOMEDCT:58265007 xref: UMLS:C0017536 {source="MONDO:equivalentTo", source="DOID:10718"} is_a: EFO:0009561 {source="MESH:D005873"} ! parasitic intestinal disease is_a: MONDO:0002428 {source="DOID:10718", source="MESH:D005873"} ! protozoa infectious disease relationship: RO:0000057 NCBITaxon:5741 ! has_participant Giardia intestinalis property_value: exactMatch DOID:10718 property_value: exactMatch http://identifiers.org/mesh/D005873 property_value: exactMatch http://identifiers.org/snomedct/10679007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017536 [Term] id: DOID:13406 name: pulmonary sarcoidosis def: "Sarcoidosis affecting the lung parenchyma. It is characterized by the presence of non-necrotizing granulomas in the lung tissues. It is manifested with dyspnea, cough, fever, night sweats, fatigue, and weight loss." [NCIT:P378] synonym: "lung Sarcoidosis" EXACT [] synonym: "lung sarcoidosis" EXACT [DOID:13406, MONDO:patterns/location, NCIT:C34997] synonym: "pulmonary sarcoidosis" EXACT [] {comment="preferred label from MONDO"} synonym: "sarcoidosis of lung" EXACT [MONDO:design_pattern] synonym: "Sarcoidosis, Pulmonary" EXACT [] xref: DOID:13406 xref: ICD9:517.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D017565 {source="DOID:13406", source="MONDO:equivalentTo"} xref: MeSH:D017565 xref: MONDO:0001708 xref: NCIT:C34997 {source="DOID:13406", source="MONDO:equivalentTo"} xref: NCIt:C34997 xref: SCTID:24369008 {source="DOID:13406", source="MONDO:equivalentTo"} xref: SNOMEDCT:187230004 xref: SNOMEDCT:24369008 xref: UMLS:C0036205 {source="DOID:13406", source="MONDO:equivalentTo", source="NCIT:C34997"} is_a: MONDO:0017026 ! interstitial lung disease specific to adulthood is_a: MONDO:0019338 {source="DOID:13406", source="MESH:D017565", source="MONDO:Redundant", source="NCIT:C34997"} ! sarcoidosis relationship: EFO:0000784 UBERON:0001004 ! has_disease_location respiratory system relationship: EFO:0000784 UBERON:0002048 ! has_disease_location lung property_value: exactMatch DOID:13406 property_value: exactMatch http://identifiers.org/mesh/D017565 property_value: exactMatch http://identifiers.org/snomedct/24369008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036205 property_value: exactMatch NCIT:C34997 [Term] id: DOID:1947 name: trichomoniasis def: "A parasitic protozoa infectious disease that is caused by singled-celled protozoan parasites Trichomonas vaginalis or Trichomonas tenax, which infect the urogenital tract and mouth respectively." [] def: "An infection that is caused by Trichomonas." [NCIT:P378] synonym: "infections, Trichomonas" RELATED [MONDO:patterns/infectious_disease_by_agent] synonym: "Trichomonas infection" EXACT [DOID:1947, MONDO:patterns/infectious_disease_by_agent] synonym: "trichomonas infection" EXACT [] synonym: "Trichomonas Infections" EXACT [] synonym: "trichomoniasis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:1947 xref: ICD10CM:A59 {source="MONDO:equivalentTo", source="DOID:1947"} xref: ICD9:131 {source="DOID:1947"} xref: ICD9:131.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:131.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1947"} xref: ICD9CM:131 xref: ICD9CM:131.9 xref: MESH:D014245 {source="MONDO:equivalentTo", source="DOID:1947"} xref: MeSH:D014245 xref: MONDO:0002154 xref: NCIT:C35720 {source="MONDO:equivalentTo", source="DOID:1947"} xref: NCIt:C35720 xref: SCTID:56335008 {source="MONDO:equivalentTo", source="DOID:1947"} xref: SNOMEDCT:105648001 xref: UMLS:C0040921 {source="MONDO:equivalentTo", source="NCIT:C35720", source="DOID:1947"} is_a: MONDO:0002428 {source="DOID:1947", source="MESH:D014245", source="NCIT:C35720"} ! protozoa infectious disease property_value: exactMatch DOID:1947 property_value: exactMatch http://identifiers.org/mesh/D014245 property_value: exactMatch http://identifiers.org/snomedct/56335008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040921 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A59 property_value: exactMatch NCIT:C35720 [Term] id: DOID:7551 name: gonorrhea def: "A common sexually transmitted bacterial infection caused by Neisseria gonorrhoeae. It is transmitted through vaginal, oral, or anal intercourse. Infected individuals may be asymptomatic. Symptoms in males include burning sensation during urination, discharge from the penis, and painful swelling of the testes. Symptoms in females include painful urination, vaginal discharge, and vaginal bleeding between periods. If untreated, the infection may lead to pelvic inflammatory disease." [NCIT:P378] def: "A primary bacterial infectious disease that is a sexually transmitted infection, located_in uterus, located_in fallopian tube, located_in urethra, located_in mouth, located_in throat, located_in eye or located_in anus, has_material_basis_in Neisseria gonorrhoeae, which is transmitted_by contact with the penis, vagina, mouth, or anus or transmitted_by congenitally from mother to baby during delivery. The infection has_symptom burning sensation during urination, has_symptom discharge from the penis, has_symptom increased vaginal discharge, or has_symptom vaginal bleeding between periods." [] synonym: "acrodermatitis, infantile lichenoid" RELATED [GARD:0006499] synonym: "acrodermatitis, papular infantile" RELATED [GARD:0006499] synonym: "chronic gonococcal infectious disease of lower genitourinary tract" EXACT [DOID:7551] synonym: "chronic gonococcal infectious disease of lower genitourinary tract." EXACT [] synonym: "chronic gonococcal infectious disease of upper genitourinary tract" EXACT [DOID:7551] synonym: "Crosti-gianotti syndrome" RELATED [GARD:0006499] synonym: "GC" EXACT ABBREVIATION [NCIT:C92950] synonym: "Gianotti Crosti syndrome" RELATED [GARD:0006499] synonym: "gonorrhea" EXACT [] {comment="preferred label from MONDO"} synonym: "infections, Neisseria gonorrhoeae" RELATED [MONDO:patterns/infectious_disease_by_agent] synonym: "Neisseria gonorrhoeae infection" EXACT [MONDO:patterns/infectious_disease_by_agent] synonym: "PAC" RELATED ABBREVIATION [GARD:0006499] synonym: "papular acrodermatitis of childhood" RELATED [GARD:0006499] synonym: "PAS" RELATED ABBREVIATION [GARD:0006499] xref: DOID:7551 xref: ICD9:098 {source="DOID:7551"} xref: ICD9:098.2 {source="DOID:7551"} xref: ICD9:098.32 {source="DOID:7551"} xref: ICD9:098.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9CM:098 xref: MESH:D006069 {source="MONDO:equivalentTo", source="DOID:7551"} xref: MeSH:D006069 xref: MONDO:0004277 xref: NCIT:C92950 {source="MONDO:equivalentTo", source="DOID:7551"} xref: NCIt:C92950 xref: Orphanet:100642 {source="MONDO:equivalentObsolete"} xref: SCTID:15628003 {source="MONDO:equivalentTo", source="DOID:7551"} xref: SNOMEDCT:15628003 xref: SNOMEDCT:186943001 xref: SNOMEDCT:187361005 xref: UMLS:C0018081 {source="NCIT:C92950", source="MONDO:equivalentTo", source="DOID:7551"} xref: UMLS:C0153203 is_a: EFO:0003955 {source="MESH:D006069"} ! bacterial sexually transmitted disease is_a: MONDO:0000314 {source="DOID:7551"} ! primary bacterial infectious disease relationship: RO:0000057 NCBITaxon:485 ! has_participant Neisseria gonorrhoeae property_value: exactMatch DOID:7551 property_value: exactMatch http://identifiers.org/mesh/D006069 property_value: exactMatch http://identifiers.org/snomedct/15628003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018081 property_value: exactMatch NCIT:C92950 [Term] id: EFO:0000001 name: experimental factor def: "An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." [] comment: Concept naming convention is lower case natural naming with spaces, when necessary captials should be used, for example disease factor, HIV, breast carcinoma, Ewing's sarcoma synonym: "ExperimentalFactor" EXACT [] xref: MO:10 property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string created_by: Helen Parkinson created_by: James Malone created_by: Tomasz Adamusiak [Term] id: EFO:0000002 name: CS57511 def: "CS57511 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311932." [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311932 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000003 name: CS57512 def: "CS57512 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311933" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311933 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000004 name: CS57515 def: "CS57515 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311936" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311936 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000005 name: CS57520 def: "CS57520 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311941" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311941 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000006 name: CS57521 def: "CS57521 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=germplasm&id=1005152522" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?type=germplasm&id=1005152522 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000007 name: CS57537 def: "CS57537 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311958" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311958 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000008 name: CS57541 def: "CS57541 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158565&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158565&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000009 name: CS57543 def: "CS57543 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158567&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158567&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000010 name: CS57544 def: "CS57544 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158568&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158568&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string [Term] id: EFO:0000011 name: CS57548 def: "CS57548 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158572&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158572&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000012 name: CS57549 def: "CS57549 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158573&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158573&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000013 name: CS57551 def: "CS57551 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158575&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158575&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000014 name: CS57556 def: "CS57556 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158580&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158580&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000015 name: CS57560 def: "CS57560 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158584&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158584&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000016 name: CS57563 def: "CS57563 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311984" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311984 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000017 name: CS57569 def: "CS57569 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158593&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158593&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000018 name: CS57570 def: "CS57570 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158594&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158594&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000019 name: CS57572 def: "CS57572 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158596&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158596&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000020 name: CS57580 def: "CS57580 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158604&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158604&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000021 name: CS57581 def: "CS57581 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158605&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158605&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000022 name: CS57583 def: "CS57583 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158607&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158607&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000023 name: CS57586 def: "CS57586 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158610&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158610&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000024 name: CS57587 def: "CS57587 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158611&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158611&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000025 name: CS57591 def: "CS57591 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158615&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158615&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000026 name: CS57595 def: "CS57595 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158619&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158619&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000027 name: CS57596 def: "CS57596 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158620&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158620&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000028 name: CS57598 def: "CS57598 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158622&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158622&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000029 name: CS57601 def: "CS57601 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158625&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158625&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000030 name: CS57603 def: "CS57603 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158627&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158627&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000031 name: CS57606 def: "CS57606 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158630&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158630&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000032 name: CS57610 def: "CS57610 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158634&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158634&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000033 name: CS57615 def: "CS57615 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158639&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158639&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000034 name: CS57616 def: "CS57616 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158640&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158640&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000035 name: CS57618 def: "CS57618 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158642&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158642&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000036 name: CS57619 def: "CS57619 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158643&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158643&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000037 name: CS57620 def: "CS57620 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158644&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158644&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000038 name: CS57621 def: "CS57621 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158645&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158645&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000039 name: CS57622 def: "CS57622 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158646&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158646&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000040 name: CS57624 def: "CS57624 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158648&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158648&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000041 name: CS57625 def: "CS57625 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158649&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158649&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000042 name: CS57626 def: "CS57626 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158650&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158650&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000043 name: CS57627 def: "CS57627 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158651&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158651&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000044 name: CS57628 def: "CS57628 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158652&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158652&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000045 name: CS57629 def: "CS57629 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158653&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158653&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000046 name: CS57630 def: "CS57630 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158654&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158654&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000047 name: CS57631 def: "CS57631 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158655&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158655&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000048 name: CS57637 def: "CS57637 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158661&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158661&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000049 name: CS57641 def: "CS57641 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158665&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158665&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000050 name: CS57644 def: "CS57644 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158668&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158668&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000051 name: CS57646 def: "CS57646 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158670&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158670&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000052 name: CS57648 def: "CS57648 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158672&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158672&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000053 name: CS57655 def: "CS57655 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158679&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158679&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000054 name: CS57658 def: "CS57658 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158682&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158682&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000055 name: CS57660 def: "CS57660 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158684&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158684&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000056 name: CS57663 def: "CS57663 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158687&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158687&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000057 name: CS57664 def: "CS57664 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158688&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158688&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000058 name: CS57666 def: "CS57664 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158690&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158690&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000059 name: CS57671 def: "CS57671 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158695&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158695&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000060 name: CS57677 def: "CS57677 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158695&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158701&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000061 name: CS57691 def: "CS57691 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158715&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158715&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000062 name: CS57692 def: "CS57692 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158716&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158716&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000063 name: CS57699 def: "CS57699 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158723&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158723&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000064 name: CS57701 def: "CS57701 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158725&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158725&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000065 name: CS57704 def: "CS57704 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158728&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158728&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000066 name: CS57705 def: "CS57705 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158729&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158729&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000067 name: CS57706 def: "CS57706 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158730&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158730&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000068 name: CS57709 def: "CS57709 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158733&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158733&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000069 name: CS57710 def: "CS57710 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158734&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158734&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000070 name: CS57714 def: "CS57714 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158738&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158738&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000071 name: CS57715 def: "CS57715 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158739&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158739&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000072 name: CS57716 def: "CS57716 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158740&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158740&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000073 name: CS57717 def: "CS57717 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158741&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158741&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000074 name: CS57719 def: "CS57719 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158743&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158743&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000075 name: CS57722 def: "CS57722 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158746&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158746&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000076 name: CS57727 def: "CS57727 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158751&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158751&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000077 name: CS57731 def: "CS57731 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158755&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158755&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000078 name: CS57732 def: "CS57732 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158756&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158756&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000079 name: CS57733 def: "CS57733 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158757&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158757&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000080 name: CS57735 def: "CS57735 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158759&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158759&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000081 name: CS57737 def: "CS57737 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158761&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158761&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000082 name: CS57740 def: "CS57740 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158764&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158764&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000083 name: CS57742 def: "CS57742 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158766&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158766&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000084 name: CS57743 def: "CS57743 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158767&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158767&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000085 name: CS57750 def: "CS57750 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158774&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158774&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000086 name: CS57751 def: "CS57751 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158775&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158775&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000087 name: CS57752 def: "CS57752 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158776&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158776&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000088 name: CS57753 def: "CS57753 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158777&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158777&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000089 name: CS57758 def: "CS57758 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158782&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158782&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000090 name: CS57769 def: "CS57769 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158793&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158793&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000091 name: obsolete_Arbisopsis thaliana property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.4" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "now using NCI taxon URI:\nhttp://purl.obolibrary.org/obo/NCBITaxon_3702" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/NCBITaxon_3702 [Term] id: EFO:0000093 name: obsolete_B-precursor acute lymphoblastic leukemia property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.5" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate with B-cell acute lymphoblastic leukemia (EFO_0000094) use this instead" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000094 [Term] id: EFO:0000094 name: B-cell acute lymphoblastic leukemia def: "A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called B acute lymphoblastic leukemia. When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001)" [NCIT:C8936] synonym: "B lymphoblastic leukemia/lymphoma" EXACT [NCIT:C8936] synonym: "B-cell acute lymphoblastic leukemia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "B-cell acute lymphoblastic leukemia" EXACT [] {comment="preferred label from MONDO"} synonym: "precursor B lymphoblastic leukemia/lymphoma" EXACT [NCIT:C8936] synonym: "precursor B lymphoblastic lymphoma/leukemia" RELATED [DOID:7061] synonym: "precursor B-lymphoblastic lymphoma/leukemia" EXACT [NCIT:C8936] xref: DOID:0080630 {source="MONDO:equivalentTo"} xref: DOID:7061 {source="MONDO:equivalentTo", source="EFO:0000094"} xref: DOID:7061 {source="MONDO:equivalentObsolete", source="EFO:0000094"} xref: EFO:0000094 {source="MONDO:equivalentTo"} xref: MONDO:0004947 xref: NCIT:C8936 {source="DOID:7061", source="MONDO:equivalentTo", source="EFO:0000094"} xref: SCTID:277571004 {source="MONDO:equivalentTo", source="EFO:0000094"} is_a: EFO:0000220 {source="EFO:0000094"} ! acute lymphoblastic leukemia is_a: EFO:1001938 {source="MONDO:Redundant"} ! B-cell non-Hodgkins lymphoma property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0862030 property_value: exactMatch DOID:0080630 property_value: exactMatch DOID:7061 property_value: exactMatch http://identifiers.org/snomedct/277571004 property_value: exactMatch http://identifiers.org/snomedct/277571004 property_value: exactMatch NCIT:C8936 property_value: exactMatch NCIT:C8936 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0000095 name: chronic lymphocytic leukemia def: "B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma, and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia. The clinical course is extremely heterogeneous with survival ranging from a few months to several decades." [Orphanet:67038] subset: ordo_disease {source="Orphanet:67038"} synonym: "B cell chronic lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "B cell chronic lymphocytic leukemia" EXACT [NCIT:C3163] synonym: "B cell CLL" EXACT [NCIT:C3163] synonym: "B cell lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "B cell lymphocytic leukemia" EXACT [NCIT:C3163] synonym: "B-cell chronic lymphocytic leukemia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "B-cell chronic lymphocytic leukemia" EXACT [DOID:1040, NCIT:C3163] synonym: "B-cell chronic lymphocytic leukemia" EXACT [] {comment="preferred label from MONDO"} synonym: "B-cell chronic lymphogenous leukaemia" EXACT OMO:0003005 [] synonym: "B-cell chronic lymphogenous leukemia" EXACT [NCIT:C3163] synonym: "B-cell chronic lymphoid leukaemia" EXACT OMO:0003005 [] synonym: "B-cell chronic lymphoid leukemia" EXACT [DOID:1040, NCIT:C3163, Orphanet:67038] synonym: "B-cell CLL" EXACT [NCIT:C3163] synonym: "B-cell lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "B-cell lymphocytic leukemia" EXACT [NCIT:C3163] synonym: "B-CLL" EXACT [Orphanet:67038] synonym: "BCLL" EXACT ABBREVIATION [NCIT:C3163] synonym: "chronic B-cell lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "chronic B-cell lymphocytic leukemia" EXACT [NCIT:C3163] synonym: "chronic lymphatic leukaemia" EXACT OMO:0003005 [] synonym: "chronic lymphatic leukemia" EXACT [DOID:1040, NCIT:C3163] synonym: "chronic lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "chronic lymphocytic leukaemia (CLL)" EXACT OMO:0003005 [] synonym: "chronic lymphocytic leukemia" EXACT [NCIT:C3163] synonym: "chronic lymphocytic leukemia (CLL)" EXACT [NCIT:C3163] synonym: "chronic lymphogenous leukaemia" EXACT OMO:0003005 [] synonym: "chronic lymphogenous leukemia" EXACT [NCIT:C3163] synonym: "CLL" EXACT ABBREVIATION [DOID:1040, MONDO:Lexical, NCIT:C3163, OMIM:151400] synonym: "hematopoeitic - chronic lymphocytic leukaemia (CLL)" EXACT OMO:0003005 [] synonym: "hematopoeitic - chronic lymphocytic leukemia (CLL)" EXACT [NCIT:C3163] synonym: "leukemia, chronic lymphatic" RELATED [OMIM:151400] synonym: "leukemia, chronic LYMPHOCYTIC" RELATED [MONDO:Lexical, OMIM:151400] synonym: "leukemia, lymphocytic, chronic" RELATED [GARD:0006104] synonym: "lymphoplasmacytic leukaemia" EXACT OMO:0003005 [] synonym: "lymphoplasmacytic leukemia" EXACT [DOID:1040] synonym: "small lymphocytic lymphoma" EXACT [Orphanet:67038] synonym: "small lymphocytic lymphoma" RELATED [Orphanet:67038] xref: DOID:1040 {source="MONDO:equivalentTo", source="EFO:0000095"} xref: EFO:0000095 {source="MONDO:equivalentTo", source="DOID:1040"} xref: GARD:0006104 {source="MONDO:equivalentTo", source="OMIM-shared"} xref: ICD10:C91.1 {source="Orphanet:67038", source="DOID:1040", source="ORDO:67038/ntbt"} xref: ICD10:C91.10 {source="DOID:1040"} xref: ICD9:204.1 {source="EFO:0000095", source="DOID:1040"} xref: MedDRA:10008958 {source="Orphanet:67038", source="Orphanet:67038/e"} xref: MedDRA:10008958 {source="Orphanet:67038", source="ORDO:67038/e"} xref: MESH:D015451 {source="Orphanet:67038", source="MONDO:equivalentTo", source="Orphanet:67038/e", source="EFO:0000095", source="DOID:1040"} xref: MESH:D015451 {source="Orphanet:67038", source="MONDO:equivalentTo", source="ORDO:67038/e", source="EFO:0000095", source="DOID:1040"} xref: MONDO:0004948 xref: NCIT:C3163 {source="MONDO:equivalentTo", source="EFO:0000095", source="DOID:1040"} xref: OMIM:151400 {source="Orphanet:67038", source="MONDO:equivalentTo", source="Orphanet:67038/e", source="EFO:0000095", source="DOID:1040"} xref: OMIM:151400 {source="Orphanet:67038", source="MONDO:equivalentTo", source="MONDO:superClassOf", source="ORDO:67038/e", source="EFO:0000095", source="DOID:1040"} xref: Orphanet:67038 {source="MONDO:equivalentTo", source="DOID:1040", source="OMIM:151400"} xref: UMLS:C0023434 {source="Orphanet:67038", source="NCIT:C3163", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:67038/e", source="DOID:1040", source="OMIM:151400"} xref: UMLS:C0023434 {source="Orphanet:67038", source="NCIT:C3163", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:67038/e", source="DOID:1040", source="OMIM:151400"} xref: UMLS:C0855095 {source="Orphanet:67038", source="MONDO:equivalentTo"} is_a: EFO:0000096 {source="EFO:0000095", source="NCIT:C3163/inferred"} ! neoplasm of mature B-cells is_a: EFO:0000220 {source="DOID:1040", source="MONDO:Redundant", source="MONDO:indirect"} ! acute lymphoblastic leukemia is_a: EFO:0009714 ! chronic disease is_a: MONDO:0001014 {source="NCIT:C3163"} ! chronic leukemia is_a: MONDO:0017594 {source="Orphanet:67038"} ! indolent B-cell non-Hodgkin lymphoma relationship: has_modifier HP:0011010 ! Chronic property_value: closeMatch http://identifiers.org/meddra/10008958 property_value: closeMatch http://identifiers.org/snomedct/154589005 property_value: closeMatch http://identifiers.org/snomedct/277473004 property_value: closeMatch http://identifiers.org/snomedct/51092000 property_value: closeMatch http://identifiers.org/snomedct/92814006 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868683 property_value: exactMatch DOID:1040 property_value: exactMatch DOID:1040 property_value: exactMatch http://identifiers.org/meddra/10008958 property_value: exactMatch http://identifiers.org/mesh/D015451 property_value: exactMatch http://identifiers.org/mesh/D015451 property_value: exactMatch http://identifiers.org/omim/151400 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023434 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023434 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0855095 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0855095 property_value: exactMatch https://omim.org/entry/151400 property_value: exactMatch NCIT:C3163 property_value: exactMatch NCIT:C3163 property_value: exactMatch Orphanet:67038 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0000096 name: neoplasm of mature B-cells def: "A neoplasm of follicle center B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001)." [NCIT:P378] def: "A neoplasm of follicle centre B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001)." [NCIT:P378] comment: Editor note: is a non-hodgkin in ONCOTREE synonym: "mature B-cell lymphocytic neoplasm" EXACT [DOID:706, NCIT:C27910] synonym: "mature B-cell neoplasm" EXACT [NCIT:C27910] synonym: "mature B-cell neoplasms" RELATED [ONCOTREE:MBN] synonym: "neoplasm of mature B-cells" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "neoplasm of mature B-cells" EXACT [] {comment="preferred label from MONDO"} xref: DOID:706 {source="MONDO:equivalentTo"} xref: EFO:0000096 {source="MONDO:equivalentTo", source="DOID:706"} xref: ICD9:202.0 {source="EFO:0000096"} xref: MONDO:0004949 xref: NCIT:C27910 {source="MONDO:equivalentTo", source="DOID:706"} xref: NCIT:C3457 {source="EFO:0000096", source="MONDO:directSiblingOf"} xref: ONCOTREE:MBN {source="MONDO:equivalentTo"} xref: SCTID:269476000 {source="EFO:0000096", source="MONDO:equivalentTo"} xref: UMLS:C1334633 {source="MONDO:equivalentTo", source="NCIT:C27910", source="DOID:706"} is_a: MONDO:0004095 {source="DOID:706", source="NCIT:C27910"} ! B-cell neoplasm property_value: closeMatch http://identifiers.org/snomedct/40411000 property_value: closeMatch http://identifiers.org/snomedct/46744002 property_value: closeMatch http://identifiers.org/snomedct/55020008 property_value: closeMatch http://identifiers.org/snomedct/55150002 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/CL448793 property_value: exactMatch DOID:706 property_value: exactMatch DOID:706 property_value: exactMatch http://identifiers.org/snomedct/269476000 property_value: exactMatch http://identifiers.org/snomedct/269476000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334633 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334633 property_value: exactMatch NCIT:C27910 property_value: exactMatch NCIT:C27910 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0000097 name: obsolete_B-lymphocyte def: "A lymphocyte of B lineage with the phenotype CD19-positive and surface immunoglobulin-positive." [] def: "Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." [] xref: CL:0000236 xref: NCIt:C12474 property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Consolidated with B cell (EFO_0000101), use B cell class instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000101 [Term] id: EFO:0000098 name: BY4741 is_a: NCBITaxon:4932 ! Saccharomyces cerevisiae property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000099 name: obsolete_BY4741 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.8" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate use EFO_0000099" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000099 [Term] id: EFO:0000100 name: BY5251 is_a: NCBITaxon:4932 ! Saccharomyces cerevisiae property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000102 name: obsolete_B lymphocyte def: "Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." [] xref: CL:0000236 xref: NCIt:C12474 property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Consolidated with B cell (EFO_0000101), use B cell class instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000101 [Term] id: EFO:0000103 name: obsolete_Becker's muscular dystrophy def: "Becker muscular dystrophy (also known as Benign pseudohypertrophic muscular dystrophy) is an X-linked recessive inherited disorder characterized by slowly progressive muscle weakness of the legs and pelvis." [] synonym: "Benign pseudohypertrophic muscular dystrophy" EXACT [] synonym: "pseudohypertrophic progressive duchenne and becker types muscular dystrophy" EXACT [] xref: DOID:14691 xref: OMIM:300376 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_98895' instead.\nNew Label : Becker muscular dystrophy" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_98895 [Term] id: EFO:0000105 name: obsolete_CNS brain cerebellum MMHCC comment: Obsolete: No longer required in EFO xref: NCIt:C22609 property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000106 name: obsolete_CNS brain hippocampus MMHCC comment: Obsolete - term hippocampus already exists xref: NCIt:C22615 property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000107 name: obsolete_hypothalamus def: "A basal part of the diencephalon that lies beneath the thalamus on each side, forms the floor of the third ventricle, and includes vital autonomic regulatory centers.nThe ventral part of the diencephalon that forms the floor and part of the lateral wall of the third ventricle. Anatomically, it includes the preoptic area, optic tract, optic chiasm, mammillary bodies, tuber cinereum, infundibulum, and neurohypophysis, but for physiological purposes the neurohypophysis is considered a distinct structure. The hypothalamus may be divided into five regions or areas (area hypothalamica rostralis, area hypothalamica dorsalis, area hypothalamica intermedia, area hypothalamica lateralis and area hypothalamica posterior) or into three longitudinal zones (periventricular zone, medial zone, and lateral zone). The hypothalamic nuclei constitute that part of the corticodiencephalic mechanism that activates, controls and integrates the peripheral autonomic mechanisms, endocrine activity, and many somatic functions, e.g., a general regulation of water balance, body temperature, sleep, and food intake, and the development of secondary sex characteristics. The hypothalamus secretes vasopressin and oxytocin, which are stored in the pituitary, as well as many releasing factors (hypophysiotropic hormones), by means of which it exerts control over functions of the adenohypophysis." [] def: "A specialized brain region of the ventral diencephalon arising near the end of the segmentation period; the embryonic hypothalamic region will give rise to the posterior pituitary gland as well as a number of brain nuclei. Kimmel et al, 1995." [] def: "Multi-tissue structure which is the largest portion of diencephalon and is ventrally located. The hypothalamus arises near the end of the segmentation period and the embryonic hypothalamic region gives rise to the neurohypophysis and other diencephalic nuclei." [] def: "The ventral part of the diencephalon that forms the floor and part of the lateral wall of the third ventricle. Anatomically, it includes the preoptic area, optic tract, optic chiasm, mammillary bodies, tuber cinereum, infundibulum, and neurohypophysis, but for physiological purposes the neurohypophysis is considered a distinct structure. The hypothalamus may be divided into five regions or areas (area hypothalamica rostralis, area hypothalamica dorsalis, area hypothalamica intermedia, area hypothalamica lateralis and area hypothalamica posterior) or into three longitudinal zones (periventricular zone, medial zone, and lateral zone). The hypothalamic nuclei constitute that part of the corticodiencephalic mechanism that activates, controls and integrates the peripheral autonomic mechanisms, endocrine activity, and many somatic functions, e.g., a general regulation of water balance, body temperature, sleep, and food intake, and the development of secondary sex characteristics. The hypothalamus secretes vasopressin and oxytocin, which are stored in the pituitary, as well as many releasing factors (hypophysiotropic hormones), by means of which it exerts control over functions of the adenohypophysis." [] synonym: "CNS - Brain - Hypothalamus (MMHCC)" EXACT [] synonym: "Preoptico-hypothalamic area" EXACT [] synonym: "Preoptico-hypothalamic region" EXACT [] xref: BTO:0000614 xref: EHDAA:5446 xref: EMAPA:17536 xref: EV:0100225 xref: FMA:62008 xref: MA:0000173 xref: MAT:0000112 xref: NCIt:C22616 xref: NIFSTD:birnlex_734 xref: SAEL:52 xref: TAO:0000032 xref: ZFA:0000032 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001898\nlabel: hypothalamus" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001898 [Term] id: EFO:0000108 name: obsolete_olfactory lobe def: "An anterior projection of each cerebral hemisphere that is continuous anteriorly with the olfactory nerve;nA term applied to the olfactory apparatus on the lower surface of the frontal lobe of the brain. It consists of the olfactory bulb, tract, and trigone." [] def: "Brain structure which is the paired anteriormost part of the telencephalon and are connected to the telencephalon by two tracts carrying secondary olfactory fibers. From Neuroanatomy of the Zebrafish Brain." [] def: "Segment of neural tree organ which is continuous with a set of olfactory nerves and an olfactory tract." [] synonym: "bulbus olfactorius" EXACT [] synonym: "CNS - Brain - Olfactory Bulb (MMHCC)" EXACT [] synonym: "olfactory bulb" EXACT [] xref: BTO:0001362 xref: EHDAA:5480 xref: EMAPA:17778 xref: EV:0100173 xref: FMA:77624 xref: MAT:0000116 xref: NCIt:C22619 xref: SAEL:75 xref: ZFA:0000402 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0005366\nlabel: olfactory lobe" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005366 [Term] id: EFO:0000109 name: obsolete_CNS brain striatum MMHCC comment: Use corpus striatum instead (EFO_0000381) xref: NCIt:C22622 property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000110 name: obsolete_spinal cord def: "Segment of neuraxis that has as its parts gray matter and white matter that surround the central canal. Examples: There is only one spinal cord." [] def: "The cord of nervous tissue that extends from the brain lengthwise along the back in the vertebral canal, gives off the pairs of spinal nerves, carries impulses to and from the brain, and serves as a center for initiating and coordinating many reflex acts." [] synonym: "medulla spinalis" EXACT [] synonym: "spinal cord structure" EXACT [] synonym: "spinal medulla" EXACT [] xref: BTO:0001279 xref: EHDAA:2863 xref: EMAPA:17577 xref: EV:0100316 xref: FMA:7647 xref: MA:0000216 xref: MAT:0000183 xref: MFO:0002860 xref: SAEL:100 xref: TAO:0000075 xref: XAO:0000020 xref: ZFA:0000075 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002240\nlabel: spinal cord" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002240 [Term] id: EFO:0000111 name: CS57770 def: "CS57770 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158794&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158794&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000112 name: CS57771 def: "CS57771 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158795&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158795&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000113 name: CS57776 def: "CS57776 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158800&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158800&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000114 name: CS57777 def: "CS57777 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158801&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158801&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000115 name: CS57778 def: "CS57778 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158802&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158802&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000116 name: CS57779 def: "CS57779 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158803&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158803&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000117 name: CS57783 def: "CS57783 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158807&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158807&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000118 name: CS57785 def: "CS57785 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158809&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158809&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000119 name: CS57789 def: "CS57789 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158813&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158813&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000120 name: CS57790 def: "CS57790 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158814&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158814&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000121 name: CS57801 def: "CS57801 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158825&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158825&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000122 name: CS57803 def: "CS57803 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158827&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158827&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000123 name: CS57807 def: "CS57807 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158831&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158831&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000124 name: CS57810 def: "CS57810 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158834&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158834&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000125 name: CS57811 def: "CS57811 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158835&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158835&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000126 name: CS57812 def: "CS57812 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158836&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158836&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000127 name: CS57813 def: "CS57813 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158837&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158837&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000128 name: CS57816 def: "CS57816 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158840&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158840&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000129 name: CS57820 def: "CS57820 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158844&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158844&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000130 name: CS57822 def: "CS57822 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158846&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158846&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000131 name: CS57823 def: "CS57823 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158847&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158847&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000132 name: CS57824 def: "CS57824 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158848&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158848&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000133 name: CS57825 def: "CS57825 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158849&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158849&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000134 name: CS57826 def: "CS57826 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158850&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158850&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000135 name: CS57827 def: "CS57827 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158851&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158851&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000136 name: CS57828 def: "CS57828 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158852&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158852&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000137 name: CS57834 def: "CS57834 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158858&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158858&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000138 name: CS57835 def: "CS57835 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158859&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158859&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000139 name: CS57836 def: "CS57836 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158860&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158860&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000140 name: CS57840 def: "CS57840 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158864&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158864&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000141 name: CS57842 def: "CS57842 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158866&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158866&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000142 name: CS57843 def: "CS57843 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158867&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158867&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000143 name: CS57847 def: "CS57847 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158871&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158871&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000144 name: CS57848 def: "CS57848 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158872&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158872&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000145 name: CS57850 def: "CS57850 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158874&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158874&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000146 name: CS57854 def: "CS57854 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158878&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158878&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000147 name: CS57858 def: "CS57858 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158882&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158882&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000148 name: CS57859 def: "CS57859 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158883&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158883&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000149 name: CS57867 def: "CS57867 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158891&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158891&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000150 name: CS57870 def: "CS57870 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158894&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158894&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000151 name: CS57871 def: "CS57871 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158895&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158895&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000152 name: CS57873 def: "CS57873 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158897&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158897&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000153 name: CS57874 def: "CS57874 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158898&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158898&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000154 name: CS57875 def: "CS57875 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158899&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158899&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000155 name: CS57876 def: "CS57876 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158900&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158900&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000156 name: CS57883 def: "CS57883 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158907&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158907&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000157 name: CS57884 def: "CS57884 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158908&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158908&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000158 name: CS57886 def: "CS57886 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158910&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158910&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000159 name: CS57890 def: "CS57890 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158914&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158914&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000160 name: CS57896 def: "CS57896 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158920&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158920&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000161 name: CS57901 def: "CS57901 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158925&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158925&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000162 name: CS57904 def: "CS57904 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158928&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158928&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000163 name: CS57905 def: "CS57905 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158929&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158929&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000164 name: CS57908 def: "CS57908 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158932&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005158932&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000165 name: CS57923 def: "CS57923 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005164919&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005164919&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000166 name: CS57924 def: "CS57924 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005164920&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=1005164920&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000167 name: CS8581 def: "CS8581 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=4473197&type=germplasm" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation http://www.arabidopsis.org/servlets/TairObject?id=4473197&type=germplasm xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000168 name: obsolete_CTL sensitivity property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000169 name: obsolete_chronic lymphocytic leukemia property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate with chronic lymphocytic leukemia (EFO_0000095) use this instead" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "OntologyMappingImporter following DOID:1040" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000095 [Term] id: EFO:0000170 name: obsolete_DEL cells property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000711 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000711 [Term] id: EFO:0000172 name: obsolete_Daudi Burkitt's lymphoma cell line def: "A Daudi Burkitt's lymphoma cell line is a cell line.\nA Daudi Burkitt's lymphoma cell line is bearer of Daudi Burkitt's lymphoma." [] comment: obsolete_Daudi Burkitt's lymphoma cell line property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.6.1" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate of Daudi http://www.ebi.ac.uk/efo/EFO_0002169" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0002169 [Term] id: EFO:0000173 name: obsolete_Ewing family tumor def: "A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones. There are conspicuous foci of necrosis in association with irregular masses of small, regular, rounded or ovoid cells with very scanty cytoplasm. The tumor occurs usually before the age of 20, about twice as frequently in males as in females. (From Dorland, 27th ed; Stedman, 25th ed)" [] xref: DOID:3369 xref: MeSH:D012512 xref: NCIt:C27291 xref: NCIt:C4817 xref: SNOMEDCT:76909002 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.8" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate of EFO_0000174 Ewing's sarcoma" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000174 [Term] id: EFO:0000174 name: Ewing sarcoma def: "A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms." [NCIT:C4817] subset: ordo_disease {source="Orphanet:319"} synonym: "ES" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C4817, OMIM:612219] synonym: "Ewing sarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "Ewing sarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "Ewing sarcoma" EXACT [MONDO:Lexical, NCIT:C4817, OMIM:612219] synonym: "Ewing tumor" RELATED [GARD:0006390] synonym: "Ewing tumour" RELATED OMO:0003005 [] synonym: "Ewing's family localised tumour" EXACT OMO:0003005 [] synonym: "Ewing's family localized tumor" EXACT [DOID:3369] synonym: "Ewing's sarcoma" EXACT [NCIT:C4817] synonym: "Ewing's sarcoma/peripheral primitive neuroectodermal tumour" RELATED OMO:0003005 [] synonym: "Ewing's tumor" EXACT [NCIT:C4817] synonym: "Ewing's tumour" EXACT OMO:0003005 [] synonym: "Ewings sarcoma" EXACT [DOID:3369] synonym: "Ewings sarcoma-primitive neuroectodermal tumor" RELATED [DOID:3369] synonym: "Ewings sarcoma-primitive neuroectodermal tumour" RELATED OMO:0003005 [] synonym: "localised Ewing sarcoma" RELATED OMO:0003005 [] synonym: "localised Ewing's sarcoma" RELATED OMO:0003005 [] synonym: "localised Ewing's sarcoma/peripheral primitive neuroectodermal tumour" RELATED OMO:0003005 [] synonym: "localised Ewing's tumour" RELATED OMO:0003005 [] synonym: "localised peripheral primitive neuroectodermal tumour" RELATED OMO:0003005 [] synonym: "localized Ewing sarcoma" RELATED [DOID:3369] synonym: "localized Ewing's sarcoma" RELATED [DOID:3369] synonym: "localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor" RELATED [DOID:3369] synonym: "localized Ewing's tumor" RELATED [DOID:3369] synonym: "localized peripheral primitive neuroectodermal tumor" RELATED [DOID:3369] synonym: "neuroepithelioma" RELATED [OMIM:612219, OMIM:genemap2] synonym: "neuroepithelioma, peripheral" RELATED [OMIM:612219] synonym: "peripheral primitive neuroectodermal tumour" RELATED OMO:0003005 [] synonym: "PNET of Thoracopulmonary region" EXACT [DOID:3369] synonym: "sarcoma, Ewing's" RELATED [GARD:0006390] xref: DOID:0050608 {source="EFO:0000174", source="MONDO:relatedTo"} xref: DOID:3369 {source="MONDO:equivalentTo"} xref: EFO:0000174 {source="MONDO:equivalentTo"} xref: GARD:0006390 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: ICD10:C40.0 {source="ORDO:319/ntbt", source="Orphanet:319"} xref: ICD10:C40.1 {source="MONDO:relatedTo", source="ORDO:319/ntbt", source="Orphanet:319"} xref: ICD10:C40.2 {source="MONDO:relatedTo", source="ORDO:319/ntbt", source="Orphanet:319"} xref: ICD10:C40.3 {source="MONDO:relatedTo", source="ORDO:319/ntbt", source="Orphanet:319"} xref: ICD10:C41.2 {source="ORDO:319/ntbt", source="Orphanet:319"} xref: ICD10:C41.3 {source="ORDO:319/ntbt", source="Orphanet:319"} xref: ICD10:C41.4 {source="ORDO:319/ntbt", source="Orphanet:319"} xref: ICD10CM:C40.1 {source="MONDO:relatedTo", source="Orphanet:319", source="Orphanet:319/ntbt"} xref: ICD10CM:C40.2 {source="MONDO:relatedTo", source="Orphanet:319", source="Orphanet:319/ntbt"} xref: ICD10CM:C40.3 {source="MONDO:relatedTo", source="Orphanet:319", source="Orphanet:319/ntbt"} xref: ICDO:9260/3 {source="NCIT:C4817"} xref: MedDRA:10015560 {source="Orphanet:319", source="Orphanet:319/e"} xref: MedDRA:10015560 {source="ORDO:319/e", source="Orphanet:319"} xref: MESH:D012512 {source="EFO:0000174", source="MONDO:equivalentTo", source="DOID:3369"} xref: MONDO:0012817 xref: NCIT:C4817 {source="EFO:0000174", source="MONDO:equivalentTo", source="DOID:3369"} xref: NCIT:C7542 {source="MONDO:relatedTo", source="DOID:3369"} xref: NCIT:C9341 {source="DOID:3369", source="MONDO:directSiblingOf"} xref: OMIM:612219 {source="EFO:0000174", source="ORDO:319/e", source="MONDO:equivalentTo", source="Orphanet:319", source="DOID:3369"} xref: OMIM:612219 {source="EFO:0000174", source="MONDO:equivalentTo", source="Orphanet:319", source="DOID:3369", source="Orphanet:319/e"} xref: ONCOTREE:ES {source="MONDO:equivalentTo"} xref: Orphanet:2677 {source="MONDO:relatedTo", source="OMIM:612219"} xref: Orphanet:319 {source="MONDO:equivalentTo", source="OMIM:612219"} xref: UMLS:C0553580 {source="NCIT:C4817", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:319", source="DOID:3369", source="OMIM:612219"} xref: UMLS:C0553580 {source="NCIT:C4817", source="MONDO:equivalentTo", source="Orphanet:319", source="DOID:3369", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612219"} xref: UMLS:C0684337 {source="DOID:3369", source="MONDO:directSiblingOf"} xref: UMLS:C0877849 {source="MONDO:relatedTo", source="DOID:3369", source="OMIM:612219"} xref: UMLS:C3489398 {source="OMIM:612219", source="MONDO:directSiblingOf"} is_a: EFO:0000691 {source="EFO:0000174", source="MESH:D012512/inferred", source="NCIT:C4817"} ! sarcoma is_a: MONDO:0021038 {source="NCIT:C4817"} ! Ewing sarcoma/peripheral primitive neuroectodermal tumor property_value: closeMatch http://identifiers.org/meddra/10015560 property_value: closeMatch http://identifiers.org/mesh/C563168 property_value: closeMatch http://identifiers.org/snomedct/128783001 property_value: closeMatch http://identifiers.org/snomedct/134210007 property_value: closeMatch http://identifiers.org/snomedct/253096008 property_value: closeMatch http://identifiers.org/snomedct/703707001 property_value: closeMatch http://identifiers.org/snomedct/73506006 property_value: closeMatch http://identifiers.org/snomedct/73676002 property_value: closeMatch http://identifiers.org/snomedct/76909002 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0796547 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0863029 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1334408 property_value: closeMatch NCIT:C27901 property_value: closeMatch NCIT:C27903 property_value: closeMatch NCIT:C7806 property_value: exactMatch DOID:3369 property_value: exactMatch DOID:3369 property_value: exactMatch http://identifiers.org/meddra/10015560 property_value: exactMatch http://identifiers.org/mesh/D012512 property_value: exactMatch http://identifiers.org/mesh/D012512 property_value: exactMatch http://identifiers.org/omim/612219 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0553580 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0553580 property_value: exactMatch https://omim.org/entry/612219 property_value: exactMatch NCIT:C4817 property_value: exactMatch NCIT:C4817 property_value: exactMatch Orphanet:319 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: relatedMatch Orphanet:2677 [Term] id: EFO:0000175 name: FUM1 def: "FUM1 is a yeast strain as described in http://www.genedb.org/genedb/Search?organism=cerevisiae&name=YPL262W&isid=true" [] is_a: NCBITaxon:4932 ! Saccharomyces cerevisiae property_value: definition:citation http://www.genedb.org/genedb/Search?organism=cerevisiae&name=YPL262W&isid=true xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000176 name: Fischer 344 def: "Fisher344 is a rat strain as described in http://www.ratmap.org/ShowStrainDetails.html?strain=72" [] synonym: "F344" EXACT [] is_a: NCBITaxon:10116 ! Rattus norvegicus property_value: definition:citation http://www.ratmap.org/ShowStrainDetails.html?strain=72 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000178 name: gastric carcinoma def: "A carcinoma that arises from epithelial cells of the stomach." [https://orcid.org/0000-0002-6601-2165] def: "A carcinoma that arises from epithelial cells of the stomach." [MONDO:DesignPattern] synonym: "Ca fundus - stomach" EXACT [DOID:10538] synonym: "Ca fundus - stomach" NARROW [DOID:10538] synonym: "cancer of fundus of stomach" EXACT [MONDO:patterns/cancer] synonym: "cancer of fundus of stomach" NARROW [MONDO:patterns/cancer] synonym: "cancer of stomach" BROAD [NCIT:C4911] synonym: "cancer of the stomach" BROAD [DOID:5517, NCIT:C4911] synonym: "carcinoma of stomach" EXACT [DOID:5517, MONDO:patterns/carcinoma, NCIT:C4911] synonym: "carcinoma of the stomach" EXACT [NCIT:C4911] synonym: "fundus of stomach cancer" EXACT [MONDO:patterns/location] synonym: "fundus of stomach cancer" NARROW [MONDO:patterns/location] synonym: "gastric (stomach) cancer" BROAD [NCIT:C4911] synonym: "gastric cancer" BROAD [NCIT:C4911] synonym: "gastric cancer, NOS" BROAD [NCIT:C4911] synonym: "gastric carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "gastric carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "gastric carcinoma" EXACT [DOID:5517, NCIT:C4911] synonym: "gastric fundus cancer" EXACT [DOID:10538] synonym: "gastric fundus cancer" NARROW [DOID:10538] synonym: "malignant fundus of stomach neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant fundus of stomach neoplasm" NARROW [MONDO:patterns/cancer] synonym: "malignant neoplasm of fundus of stomach" EXACT [DOID:10538, ICD9CM_2006:151.3, MONDO:patterns/cancer] synonym: "malignant neoplasm of fundus of stomach" NARROW [DOID:10538, ICD9CM:151.3, MONDO:patterns/cancer] synonym: "malignant tumor of fundus of stomach" EXACT [DOID:10538] synonym: "malignant tumor of fundus of stomach" NARROW [DOID:10538] synonym: "malignant tumour of fundus of stomach" NARROW OMO:0003005 [] synonym: "stomach cancer" BROAD [NCIT:C4911] synonym: "stomach carcinoma" EXACT [MONDO:patterns/location, NCIT:C4911] xref: DOID:10538 {source="MONDO:equivalentTo"} xref: DOID:5517 {source="MONDO:equivalentTo"} xref: EFO:0000178 {source="MONDO:equivalentTo", source="DOID:5517"} xref: ICD10:C16.1 {source="DOID:10538"} xref: ICD9:151.3 {source="MONDO:equivalentTo", source="DOID:10538", source="MONDO:i2s"} xref: ICD9:151.3 {source="MONDO:equivalentTo", source="DOID:10538", source="i2s"} xref: ICD9:230.2 {source="MONDO:relatedTo", source="EFO:0000178"} xref: MONDO:0004950 xref: NCIT:C4911 {source="EFO:0000178", source="MONDO:equivalentTo", source="DOID:5517"} xref: OMIM:613659 xref: SCTID:187741001 {source="MONDO:equivalentTo", source="DOID:10538"} xref: SCTID:92756002 {source="MONDO:relatedTo", source="EFO:0000178"} xref: UMLS:C0153420 {source="MONDO:equivalentTo", source="DOID:10538"} xref: UMLS:C0699791 {source="MONDO:equivalentTo", source="DOID:5517", source="NCIT:C4911"} is_a: EFO:1000218 {source="MONDO:Redundant", source="NCIT:C4911"} ! Digestive System Carcinoma is_a: MONDO:0001056 {source="DOID:5517", source="MONDO:Redundant", source="NCIT:C4911"} ! gastric cancer relationship: EFO:0000784 UBERON:0000945 ! has_disease_location stomach property_value: closeMatch http://identifiers.org/snomedct/154446008 property_value: closeMatch http://identifiers.org/snomedct/154449001 property_value: closeMatch http://identifiers.org/snomedct/255080008 property_value: closeMatch http://identifiers.org/snomedct/269528004 property_value: closeMatch http://identifiers.org/snomedct/372143007 property_value: closeMatch http://identifiers.org/snomedct/93809003 property_value: exactMatch DOID:10538 property_value: exactMatch DOID:10538 property_value: exactMatch DOID:5517 property_value: exactMatch DOID:5517 property_value: exactMatch http://identifiers.org/snomedct/187741001 property_value: exactMatch http://identifiers.org/snomedct/187741001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153420 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153420 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0699791 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0699791 property_value: exactMatch NCIT:C4911 property_value: exactMatch NCIT:C4911 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:0000179 name: Goto-Kakizaki def: "Goto-Kakizaki is a rat strain as described in http://www.taconic.com/wmspage.cfm?parm1=757" [] is_a: NCBITaxon:10116 ! Rattus norvegicus property_value: definition:citation http://www.taconic.com/wmspage.cfm?parm1=757 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000180 name: HIV-1 infection def: "The type species of lentivirus and the etiologic agent of acquired immunodeficiency syndrome (AIDS). It is characterized by its cytopathic effect and affinity for the T4-lymphocyte." [] synonym: "HIV-1 seropositive" EXACT [] synonym: "Human Immunodeficiency Virus 1" EXACT [] synonym: "Human Immunodeficiency Virus, Type 1" EXACT [] xref: MedDRA:10068341 xref: NCIt:C14220 xref: OMIM:609423 is_a: EFO:0000764 ! HIV infection property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000181 name: head and neck squamous cell carcinoma def: "A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands." [NCIT:C34447] subset: ordo_disease {source="Orphanet:67037"} synonym: "carcinoma of the head and neck" NARROW [DOID:5520, NCIT:C35850] synonym: "craniocervical region squamous cell carcinoma" EXACT [MONDO:patterns/location] synonym: "head and neck squamous cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "head and neck squamous cell carcinoma" EXACT [NCIT:C34447, Orphanet:67037] synonym: "head and neck squamous cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "HNSCC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:275355, Orphanet:67037] synonym: "SCCHN" EXACT ABBREVIATION [NCIT:C34447] synonym: "squamous cell carcinoma of head and neck" EXACT [NCIT:C34447] synonym: "squamous cell carcinoma of the head and neck" EXACT [DOID:5520, NCIT:C34447] synonym: "squamous cell carcinoma, head and neck" RELATED [MONDO:Lexical, OMIM:275355] synonym: "squamous cell carcinoma, head and neck, somatic" EXACT [OMIM:275355, OMIM:genemap2] synonym: "squamous cell carcinomas of head and neck" EXACT [DOID:5520] xref: DOID:5520 {source="MONDO:equivalentTo", source="EFO:0000181"} xref: EFO:0000181 {source="MONDO:equivalentTo"} xref: MedDRA:10060121 {source="ORDO:67037/e", source="Orphanet:67037"} xref: MedDRA:10060121 {source="Orphanet:67037/e", source="Orphanet:67037"} xref: MESH:C535575 {source="DOID:5520", source="Orphanet:67037/e", source="MONDO:equivalentTo", source="Orphanet:67037"} xref: MESH:D000077195 {source="DOID:5520", source="MONDO:equivalentTo", source="ORDO:67037/e", source="Orphanet:67037"} xref: MONDO:0010150 xref: NCIT:C34447 {source="DOID:5520", source="MONDO:equivalentTo", source="EFO:0000181"} xref: OMIM:275355 {source="DOID:5520", source="MONDO:equivalentTo", source="EFO:0000181", source="ORDO:67037/e", source="Orphanet:67037"} xref: OMIM:275355 {source="DOID:5520", source="Orphanet:67037/e", source="MONDO:equivalentTo", source="EFO:0000181", source="Orphanet:67037"} xref: ONCOTREE:HNSC {source="MONDO:equivalentTo"} xref: Orphanet:67037 {source="MONDO:equivalentTo", source="OMIM:275355"} xref: Orphanet:67037 {source="MONDO:equivalentObsolete", source="OMIM:275355"} xref: SCTID:716659002 {source="MONDO:equivalentTo"} xref: UMLS:C1168401 {source="DOID:5520", source="Orphanet:67037/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:275355", source="NCIT:C34447", source="Orphanet:67037"} xref: UMLS:C1168401 {source="DOID:5520", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:275355", source="NCIT:C34447", source="ORDO:67037/e", source="Orphanet:67037"} is_a: EFO:0000707 {source="DOID:5520", source="EFO:0000181", source="MESH:C535575", source="MONDO:Redundant", source="NCIT:C34447"} ! squamous cell carcinoma is_a: MONDO:0002038 {source="DOID:5520", source="MONDO:Redundant", source="NCIT:C34447"} ! head and neck carcinoma relationship: has_characteristic MONDO:0021136 {source="MONDO:0017371"} ! rare property_value: closeMatch http://identifiers.org/meddra/10060121 property_value: exactMatch DOID:5520 property_value: exactMatch DOID:5520 property_value: exactMatch http://identifiers.org/meddra/10060121 property_value: exactMatch http://identifiers.org/mesh/C535575 property_value: exactMatch http://identifiers.org/mesh/D000077195 property_value: exactMatch http://identifiers.org/omim/275355 property_value: exactMatch http://identifiers.org/snomedct/716659002 property_value: exactMatch http://identifiers.org/snomedct/716659002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1168401 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1168401 property_value: exactMatch https://omim.org/entry/275355 property_value: exactMatch NCIT:C34447 property_value: exactMatch NCIT:C34447 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/squamous_cell_carcinoma.yaml property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: EFO:0000182 name: hepatocellular carcinoma def: "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." [NCIT:C3099] subset: ordo_disease {source="Orphanet:88673"} synonym: "adult hepatoma" NARROW [DOID:684, NCIT:C7956] synonym: "adult primary hepatocellular carcinoma" NARROW [DOID:684] synonym: "cancer, hepatocellular" EXACT [OMIM:114550] synonym: "carcinoma of liver" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of liver cells" EXACT [NCIT:C3099] synonym: "carcinoma of the liver cells" EXACT [NCIT:C3099] synonym: "carcinoma, hepatocellular, malignant" EXACT [NCIT:C3099] synonym: "HCC" EXACT ABBREVIATION [DOID:684, NCIT:C3099, OMIM:114550, Orphanet:88673] synonym: "hepatoblastoma" RELATED [OMIM:114550] synonym: "hepatoblastoma caused by somatic mutation" RELATED [OMIM:114550] synonym: "hepatoblastoma, somatic" EXACT [OMIM:114550, OMIM:genemap2] synonym: "hepatocellular adenocarcinoma" EXACT [MONDO:design_patterns] synonym: "hepatocellular cancer" EXACT [NCIT:C3099] synonym: "hepatocellular cancer, somatic" EXACT [OMIM:114550, OMIM:genemap2] synonym: "hepatocellular carcinoma" EXACT [NCIT:C3099, OMIM:114550] synonym: "hepatocellular carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "hepatocellular carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "hepatocellular carcinoma, childhood type, somatic" EXACT [OMIM:114550, OMIM:genemap2] synonym: "hepatocellular carcinoma, somatic" EXACT [OMIM:114550, OMIM:genemap2] synonym: "hepatoma" EXACT [DOID:684, MONDO:cjm, NCIT:C3099, OMIM:114550] synonym: "liver and intrahepatic bile duct carcinoma" EXACT [DOID:686, NCIT:C7927] synonym: "liver and intrahepatic bile duct carcinoma" RELATED [DOID:686, NCIT:C7927] synonym: "liver cancer" RELATED [OMIM:114550] synonym: "liver carcinoma" EXACT [MONDO:0004018, MONDO:patterns/location] synonym: "liver cell cancer (hepatocellular carcinoma)" EXACT [NCIT:C3099] synonym: "liver cell carcinoma" EXACT [NCIT:C3099, OMIM:114550] synonym: "primary carcinoma of liver cells" EXACT [NCIT:C3099] synonym: "primary carcinoma of the liver cells" EXACT [NCIT:C3099] xref: COHD:4001171 {source="MONDO:equivalentTo"} xref: DOID:684 {source="MONDO:equivalentTo", source="EFO:0000182"} xref: DOID:686 {source="MONDO:equivalentTo"} xref: EFO:0000182 {source="MONDO:equivalentTo", source="DOID:684"} xref: ICD10:C22.0 {source="ORDO:88673/e", source="Orphanet:88673"} xref: ICDO:8170/3 {source="NCIT:C3099"} xref: MedDRA:10007416 xref: MedDRA:10024658 xref: MedDRA:10049010 {source="Orphanet:88673/e", source="Orphanet:88673"} xref: MedDRA:10049010 {source="ORDO:88673/e", source="Orphanet:88673"} xref: MESH:D006528 {source="Orphanet:88673/e", source="MONDO:equivalentTo", source="EFO:0000182", source="Orphanet:88673"} xref: MESH:D006528 {source="MONDO:equivalentTo", source="ORDO:88673/e", source="EFO:0000182", source="Orphanet:88673"} xref: MONDO:0007256 xref: NCIT:C3099 {source="MONDO:equivalentTo", source="EFO:0000182"} xref: OMIM:114550 {source="Orphanet:88673/e", source="MONDO:equivalentTo", source="DOID:684", source="EFO:0000182", source="Orphanet:88673"} xref: OMIM:114550 {source="MONDO:equivalentTo", source="ORDO:88673/e", source="DOID:684", source="EFO:0000182", source="Orphanet:88673"} xref: ONCOTREE:HCC {source="MONDO:equivalentTo"} xref: Orphanet:88673 {source="OMIM:114550", source="MONDO:equivalentTo"} is_a: MONDO:0018532 ! adenocarcinoma of liver and intrahepatic biliary tract relationship: EFO:0000784 UBERON:0002107 ! has_disease_location liver property_value: closeMatch http://identifiers.org/meddra/10049010 property_value: closeMatch http://identifiers.org/mesh/D008113 property_value: closeMatch http://identifiers.org/snomedct/25370001 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0019204 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2239176 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676033 property_value: closeMatch NCIT:C7711 property_value: exactMatch DOID:684 property_value: exactMatch DOID:684 property_value: exactMatch DOID:686 property_value: exactMatch DOID:686 property_value: exactMatch http://identifiers.org/meddra/10049010 property_value: exactMatch http://identifiers.org/mesh/D006528 property_value: exactMatch http://identifiers.org/mesh/D006528 property_value: exactMatch http://identifiers.org/omim/114550 property_value: exactMatch https://omim.org/entry/114550 property_value: exactMatch NCIT:C3099 property_value: exactMatch NCIT:C3099 property_value: exactMatch Orphanet:88673 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: EFO:0000183 name: Hodgkins lymphoma def: "Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases. There are two distinct subtypes: nodular lymphocyte predominant Hodgkin lymphoma and classical Hodgkin lymphoma. Hodgkin lymphoma involves primarily lymph nodes." [NCIT:C9357, Orphanet:98293] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98293"} synonym: "HL" EXACT ABBREVIATION [DOID:8567, NCIT:C9357] synonym: "Hodgkin disease" EXACT [DOID:8567, MTH:NOCODE, NCIT:C9357] synonym: "Hodgkin lymphoma" EXACT [DOID:8567, NCIT:C9357] synonym: "Hodgkin's disease" EXACT [NCIT:C9357, Orphanet:98293] synonym: "Hodgkin's lymphoma" EXACT [NCIT:C9357, Orphanet:98293] synonym: "Hodgkin's sarcoma" EXACT [DOID:8567, ICD9CM_2006:201.2] synonym: "Hodgkin's sarcoma" RELATED [DOID:8567, ICD9CM:201.2] synonym: "Hodgkins lymphoma" EXACT [DOID:8567] synonym: "Hodgkins lymphoma" EXACT [] {comment="preferred label from MONDO"} synonym: "Hodgkins lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "lymphoma, Hodgkin's" RELATED [GARD:0002714] synonym: "stage I subdiaphragmatic Hodgkin lymphoma" NARROW [DOID:8567, NCIT:C5012] synonym: "stage II subdiaphragmatic Hodgkin lymphoma" NARROW [DOID:8567, NCIT:C5010] xref: DOID:8567 {source="MONDO:equivalentTo", source="EFO:0000183"} xref: EFO:0000183 {source="DOID:8567", source="MONDO:equivalentTo"} xref: GARD:0002714 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10:C81 {source="DOID:8567"} xref: ICD10:C81.9 {source="DOID:8567"} xref: ICD9:201 {source="DOID:8567", source="EFO:0000183"} xref: ICD9:201.0 {source="DOID:8567"} xref: ICD9:201.1 {source="DOID:8567", source="EFO:0000183"} xref: ICD9:201.2 {source="DOID:8567", source="EFO:0000183"} xref: ICD9:201.9 {source="DOID:8567", source="EFO:0000183"} xref: ICD9:201.90 {source="EFO:0000183"} xref: ICDO:9650/3 {source="NCIT:C9357"} xref: MESH:D006689 {source="DOID:8567", source="MONDO:equivalentTo", source="EFO:0000183"} xref: MONDO:0004952 xref: NCIT:C9357 {source="DOID:8567", source="MONDO:equivalentTo", source="EFO:0000183"} xref: OMIM:236000 xref: ONCOTREE:HL {source="MONDO:equivalentTo"} xref: Orphanet:98293 {source="DOID:8567", source="MONDO:equivalentTo"} is_a: EFO:0000574 {source="DOID:8567", source="EFO:0000183", source="MESH:D006689", source="NCIT:C9357", source="Orphanet:98293"} ! lymphoma is_a: MONDO:0017343 {source="Orphanet:98293"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder property_value: closeMatch http://identifiers.org/snomedct/118599009 property_value: closeMatch http://identifiers.org/snomedct/118605002 property_value: closeMatch http://identifiers.org/snomedct/118606001 property_value: closeMatch http://identifiers.org/snomedct/14537002 property_value: closeMatch http://identifiers.org/snomedct/154582001 property_value: closeMatch http://identifiers.org/snomedct/188521005 property_value: closeMatch http://identifiers.org/snomedct/188522003 property_value: closeMatch http://identifiers.org/snomedct/188532005 property_value: closeMatch http://identifiers.org/snomedct/188533000 property_value: closeMatch http://identifiers.org/snomedct/188542007 property_value: closeMatch http://identifiers.org/snomedct/188543002 property_value: closeMatch http://identifiers.org/snomedct/188552006 property_value: closeMatch http://identifiers.org/snomedct/188595005 property_value: closeMatch http://identifiers.org/snomedct/188596006 property_value: closeMatch http://identifiers.org/snomedct/188605006 property_value: closeMatch http://identifiers.org/snomedct/189987006 property_value: closeMatch http://identifiers.org/snomedct/189991001 property_value: closeMatch http://identifiers.org/snomedct/189992008 property_value: closeMatch http://identifiers.org/snomedct/269509006 property_value: closeMatch http://identifiers.org/snomedct/309831004 property_value: closeMatch http://identifiers.org/snomedct/46923007 property_value: closeMatch http://identifiers.org/snomedct/52337003 property_value: closeMatch http://identifiers.org/snomedct/70600005 property_value: closeMatch http://identifiers.org/snomedct/74189002 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0019829 property_value: closeMatch NCIT:C5010 property_value: closeMatch NCIT:C5012 property_value: closeMatch NCIT:C7702 property_value: exactMatch DOID:8567 property_value: exactMatch DOID:8567 property_value: exactMatch http://identifiers.org/mesh/D006689 property_value: exactMatch http://identifiers.org/mesh/D006689 property_value: exactMatch NCIT:C9357 property_value: exactMatch NCIT:C9357 property_value: exactMatch Orphanet:98293 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0000184 name: obsolete_infiltrating ductal carcinoma comment: Made obsolete: considered as synonym to invasive ductal carcinoma property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000185 name: obsolete_infiltrating lobular carcinoma comment: Made obsolete: considered as synonym to invasive lobular carcinoma property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000186 name: invasive breast ductal carcinoma def: "The most common type of invasive breast carcinoma, accounting for approximately 70% of breast carcinomas. The gross appearance is usually typical with an irregular stellate outline. Microscopically, randomly arranged epithelial elements are seen. When large sheets of malignant cells are present, necrosis may be seen. With adequate tissue sampling, in situ carcinoma can be demonstrated in association with the infiltrating carcinoma. The in situ component is nearly always ductal but occasionally may be lobular or both." [NCIT:P378] synonym: "breast invasive ductal carcinoma" RELATED [ONCOTREE:IDC] synonym: "ductal adenocarcinoma" EXACT [DOID:3008, NCIT:C4017] synonym: "infiltrating ductal adenocarcinoma" EXACT [NCIT:C4194] synonym: "infiltrating ductal breast carcinoma" EXACT [NCIT:C4194] synonym: "infiltrating ductal carcinoma" EXACT [NCIT:C4194] synonym: "infiltrating ductal carcinoma of breast" EXACT [DOID:3008, NCIT:C4194] synonym: "infiltrating ductal carcinoma of the breast" EXACT [NCIT:C4194] synonym: "invasive ductal adenocarcinoma" EXACT [NCIT:C4194] synonym: "invasive ductal breast carcinoma" EXACT [NCIT:C4194] synonym: "invasive ductal breast carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "invasive ductal breast carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "invasive ductal carcinoma" EXACT [NCIT:C4194] synonym: "invasive ductal carcinoma of breast" EXACT [NCIT:C4194] synonym: "invasive ductal carcinoma of the breast" EXACT [NCIT:C4194] synonym: "invasive ductal carcinoma, No specific type" EXACT [NCIT:C4194] synonym: "invasive ductal carcinoma, NST" EXACT [DOID:3008, NCIT:C4194] xref: DOID:3008 {source="EFO:0000186", source="MONDO:equivalentTo"} xref: EFO:0000186 {source="MONDO:equivalentTo"} xref: ICD9:174.8 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:174.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8500/3 {source="NCIT:C4194"} xref: ICDO:8521/3 {source="NCIT:C4194"} xref: MONDO:0004953 xref: NCIT:C4194 {source="EFO:0000186", source="MONDO:equivalentTo", source="DOID:3008"} xref: ONCOTREE:IDC {source="MONDO:equivalentTo"} xref: SCTID:408643008 {source="MONDO:equivalentTo", source="DOID:3008"} is_a: EFO:0006318 {source="DOID:3008", source="MONDO:Redundant", source="NCIT:C4194"} ! breast ductal adenocarcinoma is_a: EFO:1000307 {source="MONDO:Redundant", source="NCIT:C4194", source="ONCOTREE:IDC"} ! Invasive Breast Carcinoma property_value: closeMatch http://identifiers.org/snomedct/58477004 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1134719 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1527349 property_value: exactMatch DOID:3008 property_value: exactMatch DOID:3008 property_value: exactMatch http://identifiers.org/snomedct/408643008 property_value: exactMatch http://identifiers.org/snomedct/408643008 property_value: exactMatch NCIT:C4194 property_value: exactMatch NCIT:C4194 [Term] id: EFO:0000187 name: Kaposi's sarcoma cell def: "A malignant neoplasm characterized by a vascular proliferation which usually contains blunt endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The most frequent site of involvement is the skin; however it may also occur internally. It generally develops in people with compromised immune systems including those with acquired immune deficiency syndrome (AIDS)." [] def: "A multicentric, malignant neoplastic vascular proliferation characterized by bluish-red cutaneous nodules, usually on the legs, toes, or feet, that slowly increase in size and number and spread to more proximal sites. The tumors have endothelium-lined channels and vascular spaces mixed with aggregates of spindle-shaped cells; they may remain confined to skin and subcutaneous tissue, but widespread visceral involvement may occur." [] synonym: "idiopathic multiple pigmented hemorrhagic sarcoma cell" EXACT [] synonym: "Kaposi - Kaposi's Sarcoma" EXACT [] synonym: "multiple hemorrhagic sarcoma cell" EXACT [] synonym: "multiple hemorrhagic sarcoma cell of Kaposi" EXACT [] synonym: "multiple idiopathic hemorrhagic sarcoma cell" EXACT [] xref: BTO:0002071 xref: OMIM:148000 is_a: EFO:0005934 ! disease cell type relationship: has_characteristic EFO:0000408 ! disease relationship: has_characteristic EFO:0000558 ! Kaposi's sarcoma property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000188 name: obsolete_liver carcinoma property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.5" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate of EFO_0000182" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000182 [Term] id: EFO:0000189 name: obsolete_liver heptocellular carcinoma property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.5" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate of EFO_0000182" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000182 [Term] id: EFO:0000190 name: obsolete_lymphoblastic leukemia MOLT-4 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.9" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate of EFO_0001220" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0001220 [Term] id: EFO:0000191 name: MALT lymphoma def: "An indolent, extranodal type of non-Hodgkin lymphoma composed of small B-lymphocytes (centrocyte-like cells). The gastrointestinal tract is the most common site of involvement. Other common sites of involvement include lung, head and neck, ocular adnexae, skin, thyroid, and breast. Gastric involvement is associated with the presence of H. pylori infection. (WHO, 2001)" [NCIT:C3898] subset: ordo_disease {source="Orphanet:52417"} synonym: "Extranodal marginal zone B-cell lymphoma" EXACT [Orphanet:52417] synonym: "Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue" EXACT [NCIT:C3898] synonym: "Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT-lymphoma)" EXACT [NCIT:C3898] synonym: "Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue" EXACT [NCIT:C3898] synonym: "extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma)" RELATED [ONCOTREE:EMALT] synonym: "familial primary gastric lymphoma" RELATED [GARD:0006485] synonym: "gastric lymphoma, primary" RELATED [OMIM:137245] synonym: "Immunocytoma" EXACT [NCIT:C3898] synonym: "lymphoma of mucosa-associated lymphoid tissue" EXACT [MONDO:design_pattern] synonym: "lymphoma, MALT, somatic" EXACT [OMIM:137245, OMIM:genemap2] synonym: "lymphoma, mucosa-associated lymphoid type" RELATED [OMIM:137245] synonym: "MALT lymphoma" EXACT [NCIT:C3898, OMIM:137245] synonym: "MALT lymphoma" EXACT [] {comment="preferred label from MONDO"} synonym: "MALT lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "MALT-lymphoma" EXACT [NCIT:C3898] synonym: "MALToma" EXACT [NCIT:C3898, Orphanet:52417] synonym: "mucosa-associated lymphatic tissue lymphoma" EXACT [Orphanet:52417] synonym: "mucosa-associated lymphoid tissue lymphoma" EXACT [DOID:0050909, MONDO:patterns/location, NCIT:C3898, Orphanet:52417] xref: COHD:40482893 {source="MONDO:equivalentTo"} xref: DOID:0050909 {source="MONDO:equivalentTo", source="EFO:0000191"} xref: EFO:0000191 {source="MONDO:equivalentTo"} xref: GARD:0006485 {source="MONDO:equivalentTo", source="OMIM-shared"} xref: ICD10:C88.4 {source="ORDO:52417/e", source="Orphanet:52417"} xref: ICD9:202.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:202.80 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9699/3 {source="NCIT:C3898"} xref: MedDRA:10060707 {source="ORDO:52417/e", source="Orphanet:52417"} xref: MedDRA:10060707 {source="Orphanet:52417", source="Orphanet:52417/e"} xref: MONDO:0007650 xref: NCIT:C3898 {source="MONDO:equivalentTo", source="EFO:0000191"} xref: OMIM:137245 {source="MONDO:equivalentTo", source="Orphanet:52417", source="Orphanet:52417/e"} xref: OMIM:137245 {source="MONDO:equivalentTo", source="ORDO:52417/e", source="Orphanet:52417"} xref: ONCOTREE:EMALT {source="MONDO:equivalentTo"} xref: Orphanet:52417 {source="MONDO:equivalentTo"} xref: SCTID:277622004 {source="MONDO:equivalentTo"} xref: UMLS:C0242647 {source="MONDO:equivalentTo", source="Orphanet:52417", source="NCIT:C3898"} xref: UMLS:C1850900 {source="OMIM:137245", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C1850900 {source="OMIM:137245", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} xref: Wikipedia:MALT_lymphoma {source="EFO:0000191"} is_a: EFO:0000096 {source="EFO:0000191", source="NCIT:C3898/inferred", source="ONCOTREE:EMALT/inferred"} ! neoplasm of mature B-cells is_a: EFO:1000630 {source="NCIT:C3898", source="ONCOTREE:EMALT", source="Orphanet:52417"} ! marginal zone B-cell lymphoma property_value: closeMatch http://identifiers.org/meddra/10060707 property_value: exactMatch DOID:0050909 property_value: exactMatch DOID:0050909 property_value: exactMatch http://identifiers.org/meddra/10060707 property_value: exactMatch http://identifiers.org/omim/137245 property_value: exactMatch http://identifiers.org/snomedct/277622004 property_value: exactMatch http://identifiers.org/snomedct/277622004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242647 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242647 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850900 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850900 property_value: exactMatch https://omim.org/entry/137245 property_value: exactMatch NCIT:C3898 property_value: exactMatch NCIT:C3898 property_value: exactMatch Orphanet:52417 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/lymphoma.yaml property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: EFO:0000192 name: obsolete_MELAS syndrome def: "A mitochondrial disorder characterized by focal or generalized seizures, episodes of transient or persistent neurologic dysfunction resembling strokes, and ragged-red fibers on muscle biopsy. Affected individuals tend to be normal at birth through early childhood, then experience growth failure, episodic vomiting, and recurrent cerebral insults resulting in visual loss and hemiparesis. The cortical lesions tend to occur in the parietal and occipital lobes and are not associated with vascular occlusion. VASCULAR HEADACHE is frequently associated and the disorder tends to be familial. (From Joynt, Clinical Neurology, 1992, Ch56, p117)" [] synonym: "MELAS" EXACT [] synonym: "MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES" EXACT [] synonym: "Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode" EXACT [] synonym: "Syndrome, MELAS" EXACT [] xref: DOID:3687 xref: MeSH:D017241 xref: OMIM:540000 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_550' instead.\nNew Label : MELAS syndrome" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_550 [Term] id: EFO:0000193 name: obsolete_MMHCC part def: "A program to develop and refine experimental models that reflect the etiology and progression of human cancer." [] def: "An MMHCC (Mouse Models of Human Cancers Consortium) part is an organism part that has been modelled by the MMHCC, a program to develop and refine experimental models that reflect the etiology and progression of human cancer." [] comment: Obsolete: No longer required in EFO xref: NCIt:C19750 property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000194 name: obsolete_malignant peripheral nerve sheath tumor class def: "An uncommon, highly aggressive malignant tumor, arising from the peripheral nerves and affecting mostly adults in their third to sixth decades of life. It usually occurs in medium-sized and large nerves of the buttock, thigh, upper arm, or the paraspinal region. It may be associated with neurofibromatosis 1 (NF1)." [] def: "Neoplasms which arise from nerve sheaths formed by SCHWANN CELLS in the PERIPHERAL NERVOUS SYSTEM or by OLIGODENDROCYTES in the CENTRAL NERVOUS SYSTEM. Malignant peripheral nerve sheath tumors, NEUROFIBROMA, and NEURILEMMOMA are relatively common tumors in this category." [] xref: DOID:5940 xref: MeSH:D018317 xref: NCIt:C3798 xref: SNOMEDCT:19897006 xref: SNOMEDCT:404037002 property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000195 name: metabolic syndrome def: "A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)" [] synonym: "Cardiovascular Syndrome, Metabolic" EXACT [] synonym: "Cardiovascular Syndromes, Metabolic" EXACT [] synonym: "Dysmetabolic Syndrome X" EXACT [] synonym: "Insulin Resistance Syndrome X" EXACT [] synonym: "Metabolic Cardiovascular Syndrome" EXACT [] synonym: "Metabolic Syndrome X" EXACT [] synonym: "Metabolic X Syndrome" EXACT [] synonym: "MetS" EXACT [] synonym: "Reaven Syndrome X" EXACT [] synonym: "Syndrome X, Dysmetabolic" EXACT [] synonym: "Syndrome X, Insulin Resistance" EXACT [] synonym: "Syndrome X, Metabolic" EXACT [] synonym: "Syndrome X, Reaven" EXACT [] synonym: "Syndrome, Metabolic Cardiovascular" EXACT [] synonym: "Syndrome, Metabolic X" EXACT [] synonym: "X Syndrome, Metabolic" EXACT [] xref: DOID:14221 xref: ICD9:277.7 xref: MedDRA:10052066 xref: MeSH:D024821 xref: NCIt:C84442 xref: OMIM:605552 xref: OMIM:615812 xref: SNOMEDCT:237602007 is_a: EFO:0000589 ! metabolic disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000196 name: metastatic prostate cancer def: "A carcinoma that arises from the prostate gland and has spread to other anatomic sites." [NCIT:C8946] synonym: "metastatic prostate cancer" EXACT [NCIT:C8946] synonym: "metastatic prostate carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "metastatic prostate carcinoma" EXACT [NCIT:C8946] synonym: "metastatic prostate carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "prostate cancer metastatic" EXACT [NCIT:C8946] synonym: "prostate carcinoma metastatic" EXACT [NCIT:C8946] xref: EFO:0000196 {source="MONDO:equivalentTo"} xref: ICD9:199.1 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:199.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MONDO:0004956 xref: NCIT:C8946 {source="EFO:0000196", source="MONDO:equivalentTo"} xref: SCTID:314994000 {source="MONDO:equivalentTo"} is_a: EFO:0001663 {source="EFO:0000196", source="MONDO:Redundant", source="NCIT:C8946"} ! prostate carcinoma relationship: disease_has_feature MONDO:0024879 ! metastatic carcinoma relationship: EFO:0000784 UBERON:0002367 ! has_disease_location prostate gland property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1282496 property_value: exactMatch http://identifiers.org/snomedct/314994000 property_value: exactMatch http://identifiers.org/snomedct/314994000 property_value: exactMatch NCIT:C8946 property_value: exactMatch NCIT:C8946 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0000197 name: mucinous carcinoma def: "An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland." [NCIT:C26712] synonym: "adenocarcinoma, mucinous, malignant" EXACT [NCIT:C26712] synonym: "CEMU" RELATED ABBREVIATION [ONCOTREE:CEMU] synonym: "colloid adenocarcinoma" EXACT [NCIT:C26712] synonym: "colloid carcinoma" EXACT [NCIT:C26712] synonym: "gelatinous adenocarcinoma" EXACT [NCIT:C26712] synonym: "gelatinous carcinoma" EXACT [NCIT:C26712] synonym: "mucin-producing adenocarcinoma" EXACT [DOID:3030] synonym: "mucin-producing adenocarcinoma (morphologic abnormality)" EXACT [DOID:3030] synonym: "mucin-secreting adenocarcinoma" EXACT [DOID:3030, NCIT:C27379] synonym: "mucin-secreting carcinoma" EXACT [DOID:3030, NCIT:C27825] synonym: "mucinous adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "mucinous adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "mucinous adenocarcinoma" EXACT [NCIT:C26712] synonym: "mucinous carcinoma" EXACT [NCIT:C26712] synonym: "mucinuos carcinoma" EXACT [MONDO:0006310] synonym: "mucoid adenocarcinoma" EXACT [NCIT:C26712] synonym: "mucoid carcinoma" EXACT [NCIT:C26712] synonym: "mucous adenocarcinoma" EXACT [NCIT:C26712] synonym: "mucous carcinoma" EXACT [DOID:3030, NCIT:C26712] synonym: "pseudomyxoma peritonei with unknown primary site" EXACT [DOID:3030] xref: DOID:3030 {source="EFO:0000197", source="MONDO:equivalentTo"} xref: EFO:0000197 {source="MONDO:equivalentTo"} xref: ICDO:8480/3 {source="NCIT:C26712"} xref: MESH:D002288 {source="MONDO:equivalentTo", source="DOID:3030"} xref: MONDO:0004957 xref: NCIT:C26712 {source="EFO:0000197", source="MONDO:equivalentTo", source="EFO:1000387", source="DOID:3030"} xref: ONCOTREE:CEMU {source="MONDO:equivalentTo"} xref: UMLS:C0007130 {source="MONDO:equivalentTo", source="EFO:1000387", source="NCIT:C26712", source="DOID:3030"} xref: UMLS:C0334368 {source="MONDO:equivalentTo", source="DOID:3030"} is_a: EFO:0000228 {source="DOID:3030", source="EFO:1000387", source="MESH:D002288", source="MONDO:Redundant", source="NCIT:C26712"} ! adenocarcinoma is_a: MONDO:0020596 ! mucin-producing carcinoma intersection_of: EFO:0000228 {source="NCIT:C26712"} ! adenocarcinoma intersection_of: MONDO:0024338 {source="NCIT:C26712"} ! mucinous neoplasm property_value: closeMatch http://identifiers.org/snomedct/72495009 property_value: closeMatch http://identifiers.org/snomedct/900006 property_value: closeMatch NCIT:C27379 property_value: exactMatch DOID:3030 property_value: exactMatch DOID:3030 property_value: exactMatch http://identifiers.org/mesh/D002288 property_value: exactMatch http://identifiers.org/mesh/D002288 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007130 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007130 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334368 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334368 property_value: exactMatch NCIT:C26712 property_value: exactMatch NCIT:C26712 [Term] id: EFO:0000198 name: myelodysplastic syndrome def: "A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001)" [NCIT:C3247] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:52688"} synonym: "dysmyelopoietic syndrome" EXACT [NCIT:C3247] synonym: "hematopoeitic - myelodysplastic syndrome (MDS)" EXACT [NCIT:C3247] synonym: "MDS" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C3247, OMIM:614286] synonym: "MDS, unclassifiable" EXACT ABBREVIATION [doi:10.5772/intechopen.82532] synonym: "MDS-U" EXACT ABBREVIATION [doi:10.5772/intechopen.82532] synonym: "myelodysplasia" EXACT [NCIT:C3247] synonym: "myelodysplastic neoplasm" EXACT [NCIT:C3247] synonym: "myelodysplastic syndrome" EXACT [MONDO:0013667, MONDO:Lexical, NCIT:C3247, OMIM:614286] synonym: "myelodysplastic syndrome" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "myelodysplastic syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "myelodysplastic syndrome, somatic" EXACT [OMIM:614286, OMIM:genemap2] synonym: "myelodysplastic syndrome, susceptibility to" RELATED [OMIM:614286] synonym: "myelodysplastic syndrome, unclassifiable" EXACT [doi:10.5772/intechopen.82532] synonym: "myelodysplastic syndrome/neoplasm" EXACT [NCIT:C3247] synonym: "myelodysplastic syndromes" EXACT [NCIT:C3247] synonym: "oligoblastic leukaemia" EXACT OMO:0003005 [] synonym: "oligoblastic leukemia" EXACT [NCIT:C3247] synonym: "preleukemia" EXACT [NCIT:C3247] synonym: "smoldering leukemia" EXACT [NCIT:C3247] synonym: "smouldering leukaemia" EXACT OMO:0003005 [] xref: COHD:138994 {source="MONDO:equivalentTo"} xref: DOID:0050908 {source="EFO:0000198", source="MONDO:equivalentTo"} xref: EFO:0000198 {source="MONDO:equivalentTo"} xref: GARD:0007132 {source="MONDO:equivalentTo", source="OMIM-shared"} xref: ICD9:238.7 {source="DOID:0050908"} xref: ICD9:238.75 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:238.75 {source="MONDO:equivalentTo", source="i2s"} xref: ICDO:9989/3 {source="NCIT:C3247"} xref: MedDRA:10028532 {source="Orphanet:52688", source="Orphanet:52688/e"} xref: MedDRA:10028532 {source="ORDO:52688/e", source="Orphanet:52688"} xref: MedDRA:10068361 xref: MONDO:0018881 xref: NCIT:C3247 {source="EFO:0000198", source="MONDO:equivalentTo"} xref: OMIM:614286 {source="DOID:0050908", source="EFO:0000198", source="ORDO:52688/e", source="Orphanet:52688", source="MONDO:equivalentTo", source="MONDO:superClassOf"} xref: OMIM:614286 {source="DOID:0050908", source="EFO:0000198", source="Orphanet:52688", source="MONDO:equivalentTo", source="Orphanet:52688/e"} xref: ONCOTREE:MDS {source="MONDO:equivalentTo"} xref: Orphanet:52688 {source="MONDO:equivalentTo", source="OMIM:614286"} xref: Orphanet:52688 {source="MONDO:subClassOf", source="MONDO:equivalentTo", source="OMIM:614286"} xref: SCTID:109995007 {source="MONDO:equivalentTo"} xref: UMLS:C0033027 {source="MONDO:equivalentTo"} xref: UMLS:C3463824 {source="Orphanet:52688", source="MONDO:equivalentTo", source="NCIT:C3247", source="OMIM:614286"} is_a: MONDO:0015756 {source="MONDO:Redundant", source="Orphanet:52688"} ! myeloid hemopathy is_a: MONDO:0021058 {source="NCIT:C3247"} ! neoplastic syndrome is_a: Orphanet:322126 ! Genetic tumor of hematopoietic and lymphoid tissues relationship: disease_has_feature EFO:0002427 {source="EFO:0000198", source="MONDO:Redundant", source="NCIT:C3247", source="ONCOTREE:MDS/inferred"} ! myeloid neoplasm relationship: disease_has_feature MONDO:0021138 {source="NCIT:C3247"} ! bone marrow cancer property_value: closeMatch http://identifiers.org/meddra/10028532 property_value: closeMatch http://identifiers.org/mesh/D011289 property_value: closeMatch http://identifiers.org/snomedct/128623006 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0026986 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2713368 property_value: exactMatch DOID:0050908 property_value: exactMatch DOID:0050908 property_value: exactMatch http://identifiers.org/meddra/10028532 property_value: exactMatch http://identifiers.org/mesh/D009190 property_value: exactMatch http://identifiers.org/omim/614286 property_value: exactMatch http://identifiers.org/snomedct/109995007 property_value: exactMatch http://identifiers.org/snomedct/109995007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026985 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033027 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033027 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3463824 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3463824 property_value: exactMatch https://omim.org/entry/614286 property_value: exactMatch NCIT:C3247 property_value: exactMatch NCIT:C3247 property_value: exactMatch Orphanet:52688 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5268 xsd:anyURI [Term] id: EFO:0000199 name: oral squamous cell carcinoma def: "A squamous cell carcinoma arising from the oral cavity. It affects predominantly adults in their fifth and sixth decades of life and is associated with alcohol and tobacco use. Human papillomavirus is present in approximately half of the cases. It is characterized by a tendency to metastasize early to the lymph nodes. When the tumor is small, patients are often asymptomatic. Physical examination may reveal erythematous or white lesions or plaques. The majority of patients present with signs and symptoms of locally advanced disease including mucosal ulceration, pain, difficulty with speaking, chewing, and swallowing, bleeding, weight loss, and neck swelling. Patients may also present with swollen neck lymph nodes without any symptoms from the oropharyngeal tumor. The most significant prognostic factors are the size of the tumor and the lymph nodes status." [NCIT:C4833] subset: gard_rare {source="GARD:0007263"} subset: ordo_disease synonym: "mouth scc" EXACT [NCIT:C4833] synonym: "mouth squamous cell carcinoma" EXACT [DOID:0050866, MONDO:patterns/location, NCIT:C4833] synonym: "OCSC" RELATED ABBREVIATION [ONCOTREE:OCSC] synonym: "oral cavity scc" EXACT [NCIT:C4833] synonym: "oral cavity squamous cell cancer" EXACT [NCIT:C4833] synonym: "oral cavity squamous cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "oral cavity squamous cell carcinoma" EXACT [NCIT:C4833] synonym: "oral cavity squamous cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "oral squamous cell carcinoma" RELATED [DOID:0050866, GARD:0007263] synonym: "OSCC" EXACT [] synonym: "scc of mouth" EXACT [NCIT:C4833] synonym: "scc of oral cavity" EXACT [NCIT:C4833] synonym: "scc of the mouth" EXACT [NCIT:C4833] synonym: "scc of the oral cavity" EXACT [NCIT:C4833] synonym: "squamous cell carcinoma of mouth" EXACT [NCIT:C4833] synonym: "squamous cell carcinoma of oral cavity" EXACT [NCIT:C4833] synonym: "squamous cell carcinoma of the mouth" EXACT [NCIT:C4833] synonym: "squamous cell carcinoma of the oral cavity" EXACT [NCIT:C4833] xref: DOID:0050866 {source="EFO:0000199", source="MONDO:equivalentTo"} xref: EFO:0000199 {source="MONDO:equivalentTo"} xref: GARD:0007263 {source="MONDO:equivalentTo"} xref: MONDO:0004958 xref: NCIT:C4833 {source="EFO:0000199", source="MONDO:equivalentTo"} xref: ONCOTREE:OCSC {source="MONDO:equivalentTo"} xref: Orphanet:502363 {source="MONDO:equivalentTo"} xref: SCTID:307502000 {source="EFO:0000199", source="MONDO:equivalentTo"} xref: UMLS:C0585362 {source="MONDO:equivalentTo", source="NCIT:C4833"} is_a: MONDO:0044710 ! lip and oral cavity squamous cell carcinoma is_a: MONDO:0044925 ! oral cavity carcinoma relationship: EFO:0000784 UBERON:0000165 ! has_disease_location mouth property_value: exactMatch DOID:0050866 property_value: exactMatch DOID:0050866 property_value: exactMatch http://identifiers.org/snomedct/307502000 property_value: exactMatch http://identifiers.org/snomedct/307502000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0585362 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0585362 property_value: exactMatch NCIT:C4833 property_value: exactMatch NCIT:C4833 property_value: exactMatch Orphanet:502363 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/squamous_cell_carcinoma.yaml property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7263/oral-squamous-cell-carcinoma xsd:anyURI {source="GARD:0007263"} [Term] id: EFO:0000200 name: plasma cell neoplasm def: "A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance." [NCIT:C4665] comment: See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/39 subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98282"} synonym: "plasma cell disorder" RELATED [] synonym: "plasma cell dyscrasia" EXACT [NCIT:C4665] synonym: "plasma cell neoplasm" EXACT [NCIT:C4665] synonym: "plasma cell neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "plasma cell neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "plasma cell tumor" EXACT [DOID:6536, MONDO:0020079, NCIT:C4665] synonym: "plasma cell tumor" EXACT [MONDO:0020079, NCIT:C4665] synonym: "plasma cell tumor, malignant" EXACT [NCIT:C4665] synonym: "plasma cell tumour" EXACT OMO:0003005 [] synonym: "plasma cell tumour" EXACT [DOID:6536] synonym: "plasmacytic neoplasm" EXACT [NCIT:C4665] synonym: "plasmacytic tumor" EXACT [DOID:6536, NCIT:C4665] synonym: "plasmacytic tumour" EXACT OMO:0003005 [] synonym: "plasmacytic tumour" EXACT [NCIT:C4665] xref: COHD:443743 {source="MONDO:equivalentTo"} xref: DOID:6536 {source="EFO:0000200", source="MONDO:equivalentTo"} xref: EFO:0000200 {source="DOID:6536", source="MONDO:equivalentTo"} xref: ICD9:238.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:238.6 {source="MONDO:relatedTo", source="i2s"} xref: MedDRA:10035229 xref: MESH:D054219 {source="MONDO:equivalentTo"} xref: MONDO:0004959 xref: NCIT:C4665 {source="EFO:0000200", source="MONDO:equivalentTo"} xref: Orphanet:98282 {source="MONDO:equivalentTo"} xref: SCTID:415111003 {source="EFO:0000200", source="MONDO:equivalentTo"} xref: UMLS:C1959632 {source="MONDO:equivalentTo", source="Orphanet:98282"} is_a: EFO:0000096 {source="DOID:6536", source="EFO:0000200", source="NCIT:C4665"} ! neoplasm of mature B-cells property_value: closeMatch http://identifiers.org/snomedct/277576009 property_value: closeMatch http://identifiers.org/snomedct/71390001 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1136084 property_value: exactMatch DOID:6536 property_value: exactMatch DOID:6536 property_value: exactMatch http://identifiers.org/mesh/D054219 property_value: exactMatch http://identifiers.org/mesh/D054219 property_value: exactMatch http://identifiers.org/snomedct/415111003 property_value: exactMatch http://identifiers.org/snomedct/415111003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1959632 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1959632 property_value: exactMatch NCIT:C4665 property_value: exactMatch NCIT:C4665 property_value: exactMatch Orphanet:98282 [Term] id: EFO:0000201 name: obsolete_precursor T lymphoblastic leukemia comment: obsolete - duplication with T cell acute lymphoblastic\nleukemia EFO_0000209 use this instead property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.5" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000202 name: obsolete_promyelocytic leukemia property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.5" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication with acute promyelocytic leukemia (EFO_0000224)" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000224 [Term] id: EFO:0000203 name: monoclonal gammopathy def: "A condition characterized by the abnormal presence of monoclonal immunoglobulins in the blood or urine." [https://github.com/monarch-initiative/mondo/issues/227, NCIT:C35548] def: "A plasma cell disorder in which an abnormal amount of a single immunoglobulin is present in the serum. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases." [] synonym: "Benign Monoclonal Gammopathy" EXACT [] synonym: "MGUS" EXACT [] synonym: "MGUS - Monoclonal gammopathy of uncertain significance" EXACT [] synonym: "monoclonal gammopathy" EXACT [] {comment="preferred label from MONDO"} synonym: "Monoclonal gammopathy of uncertain significance" EXACT [] synonym: "Monoclonal gammopathy of uncertain significance (disorder)" EXACT [] synonym: "Monoclonal gammopathy of undetermined significance" EXACT [] synonym: "Monoclonal Gammopathy Of Undetermined Significance (MGUS)" EXACT [] synonym: "Monoclonal gammopathy of undetermined significance (morphologic abnormality)" EXACT [] synonym: "Monoclonal Gammopathy of Unknown Significance" EXACT [] synonym: "Paraproteinaemia" EXACT [] synonym: "Paraproteinemia" EXACT [] xref: DOID:7442 xref: ICD10CM:D47.2 {source="MONDO:equivalentTo"} xref: MedDRA:10060880 xref: MeSH:D008998 xref: MESH:D010265 {source="MONDO:equivalentTo"} xref: MONDO:0004960 xref: NCIT:C35548 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="EFO:0000203", source="MONDO:exact-label-match"} xref: NCIt:C35548 xref: SCTID:109983007 {source="MONDO:equivalentTo"} xref: SNOMEDCT:277577000 xref: SNOMEDCT:35601003 xref: SNOMEDCT:58648008 is_a: EFO:0005803 {source="EFO:0000203", source="EFO:pr", source="MESH:D010265/inferred", source="https://github.com/EBISPOT/efo/issues/149"} ! hematologic disease property_value: exactMatch http://identifiers.org/mesh/D010265 property_value: exactMatch http://identifiers.org/snomedct/109983007 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D47.2 property_value: exactMatch NCIT:C35548 property_value: excluded_subClassOf MONDO:0004959 {source="EFO:0000203"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000204 name: obsolete_Scott syndrome def: "Scott syndrome is a rare congenital bleeding disorder that is due to a defect in a platelet mechanism required for blood coagulation." [] synonym: "Scott syndrome (disorder)" EXACT [] xref: OMIM:262890 xref: SNOMEDCT:128098009 property_value: definition:citation http://en.wikipedia.org/wiki/Scott_syndrome xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_806' instead.\nNew Label : Scott syndrome" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_806 [Term] id: EFO:0000205 name: stage I endometrioid carcinoma def: "Endometrial cancer is a cancer that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage I, the cancer is only growing in the body of the uterus. It may also be growing into the glands of the cervix, but is not growing into the supporting connective tissue of the cervix." [EFO:0000205] synonym: "stage I endometrioid carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "stage I endometrioid carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:0000205 {source="MONDO:equivalentTo"} xref: MONDO:0004961 is_a: EFO:0000466 {source="https://github.com/monarch-initiative/mondo/issues/490"} ! endometrioid carcinoma relationship: part_of_progression_of_disease EFO:1001512 ! endometrial carcinoma property_value: excluded_subClassOf MONDO:0021007 [Term] id: EFO:0000206 name: stage II endometrioid carcinoma def: "Endometrial carcinoma is a carcinoma that arises from the endometrium (the lining of the uterus or womb). It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage II the cancer has spread from the body of the uterus and is growing into the supporting connective tissue of the cervix (called the cervical stroma). The cancer has spread into connective tissue of the cervix, but has not spread outside the uterus." [EFO:0000206] synonym: "stage II endometrioid carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "stage II endometrioid carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:0000206 {source="MONDO:equivalentTo"} xref: MONDO:0004962 is_a: EFO:0000466 {source="https://orcid.org/0000-0001-5208-3432"} ! endometrioid carcinoma relationship: part_of_progression_of_disease EFO:1001512 ! endometrial carcinoma property_value: excluded_subClassOf MONDO:0021007 [Term] id: EFO:0000207 name: obsolete_T-cell lymphoblastic lymphoma property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.8" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate of T-cell lymphoblastic lymphoma EFO_0000209" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000209 [Term] id: EFO:0000209 name: T-cell acute lymphoblastic leukemia def: "Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001)" [NCIT:C3183] synonym: "acute T cell leukaemia" BROAD OMO:0003005 [] synonym: "acute T cell leukemia" BROAD [NCIT:C3183] synonym: "acute T cell leukemia" EXACT [NCIT:C3183] synonym: "acute T cell lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "acute T cell lymphoblastic leukemia" EXACT [NCIT:C3183] synonym: "acute T cell lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "acute T cell lymphocytic leukemia" EXACT [NCIT:C3183] synonym: "acute T-cell leukaemia" EXACT OMO:0003005 [] synonym: "acute T-cell leukemia" EXACT [NCIT:C3183] synonym: "acute T-cell lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "acute T-cell lymphoblastic leukemia" EXACT [NCIT:C3183] synonym: "acute T-cell lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "acute T-cell lymphocytic leukemia" EXACT [NCIT:C3183] synonym: "precursor T-lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "precursor T-lymphoblastic leukaemia (T-cell ALL)" EXACT OMO:0003005 [] synonym: "precursor T-lymphoblastic leukemia" EXACT [NCIT:C3183] synonym: "precursor T-lymphoblastic leukemia (T-cell ALL)" EXACT [NCIT:C3183] synonym: "T acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "T acute lymphoblastic leukemia" EXACT [NCIT:C3183] synonym: "T-ALL" EXACT [NCIT:C3183] synonym: "T-cell acute lymphoblastic leukemia" EXACT [] {comment="preferred label from MONDO"} synonym: "T-cell acute lymphoblastic leukemia" EXACT [NCIT:C3183] synonym: "T-cell acute lymphoblastic leukemia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "T-cell acute lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "T-cell acute lymphocytic leukemia" EXACT [NCIT:C3183] synonym: "T-cell ALL" EXACT [NCIT:C3183] synonym: "T-cell type acute leukaemia" EXACT OMO:0003005 [] synonym: "T-cell type acute leukemia" EXACT [NCIT:C3183] xref: DOID:0050523 {source="MONDO:relatedTo", source="EFO:0000209"} xref: DOID:5603 {source="MONDO:relatedTo", source="EFO:0000209"} xref: EFO:0000209 {source="MONDO:equivalentTo"} xref: HGNC:5056 {source="EFO:0000209"} xref: ICDO:9837/3 {source="NCIT:C3183"} xref: MONDO:0004963 xref: NCIT:C3183 {source="MONDO:equivalentTo", source="EFO:0000209"} xref: SCTID:277575008 {source="MONDO:relatedTo", source="EFO:0000209"} is_a: EFO:0000220 {source="EFO:0000209", source="MONDO:Redundant", source="NCIT:C3183"} ! acute lymphoblastic leukemia property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1961099 property_value: exactMatch NCIT:C3183 property_value: exactMatch NCIT:C3183 [Term] id: EFO:0000210 name: obsolete_T lymphocyte def: "A cell of the B cell, T cell, or natural killer cell lineage." [] xref: CL:0000542 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.7" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate: use EFO_0000208" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000208 [Term] id: EFO:0000211 name: unspecified peripheral T-cell lymphoma def: "Aggressive nodal or extranodal mature (peripheral) T-cell lymphomas that do not belong to the better defined entities of the remainder of mature T-cell lymphomas. This category includes the following variants: lymphoepithelioid cell variant (Lennert's lymphoma), follicular variant, and T-zone variant." [NCIT:C4340] synonym: "peripheral T-cell lymphoma, not otherwise specified" EXACT [NCIT:C4340] synonym: "peripheral T-cell lymphoma, not otherwise specified" EXACT [] {comment="preferred label from MONDO"} synonym: "peripheral T-cell lymphoma, not otherwise specified" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "PTCL" RELATED ABBREVIATION [ONCOTREE:PTCL] xref: EFO:0000211 {source="MONDO:equivalentTo"} xref: MONDO:0004964 xref: NCIT:C4340 {source="EFO:0000211", source="MONDO:equivalentTo"} xref: ONCOTREE:PTCL {source="MONDO:equivalentTo"} is_a: EFO:0000574 {source="EFO:0000211", source="NCIT:C4340/inferred"} ! lymphoma is_a: EFO:0002426 {source="EFO:0000211", source="NCIT:C4340/inferred"} ! neoplasm of mature T-cells or NK-cells property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2853959 property_value: exactMatch NCIT:C4340 property_value: exactMatch NCIT:C4340 [Term] id: EFO:0000212 name: obsolete_Wilms tumor def: "A malignant kidney tumor, caused by the uncontrolled multiplication of renal stem (blastemal), stromal (STROMAL CELLS), and epithelial (EPITHELIAL CELLS) elements. However, not all three are present in every case. Several genes or chromosomal areas have been associated with Wilms tumor which is usually found in childhood as a firm lump in a child's side or ABDOMEN." [] def: "A malignant mixed tumor that affects the kidneys and typically located_in children." [] def: "A malignant mixed tumor that affects the kidneys and typically occurs in children." [] synonym: "Bilateral Wilms Tumor" EXACT [] synonym: "Nephroblastoma" EXACT [] synonym: "Nephroblastoma (disorder)" EXACT [] synonym: "Nephroblastoma (morphologic abnormality)" EXACT [] synonym: "Nephroblastoma NOS" EXACT [] synonym: "Nephroblastomas" EXACT [] synonym: "renal Wilms tumor" EXACT [] synonym: "Tumor, Bilateral Wilms" EXACT [] synonym: "Tumor, Wilms" EXACT [] synonym: "Tumor, Wilms'" EXACT [] synonym: "Wilm Tumor" EXACT [] synonym: "Wilm's Tumor" EXACT [] synonym: "Wilms Tumor, Bilateral" EXACT [] synonym: "Wilms' Tumor" EXACT [] xref: DOID:2154 xref: MeSH:D009396 xref: OMIM:194070 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.33" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate of class http://www.ebi.ac.uk/efo/EFO_1000056" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_1000056 [Term] id: EFO:0000213 name: obsolete_abdominal cavity def: "The portion of the body that lies between the thorax and the pelvis." [] synonym: "Abdomen" EXACT [] xref: NCIt:C12664 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0003684\nlabel: abdominal cavity" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003684 [Term] id: EFO:0000214 name: obsolete_abdominal skin property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0001416 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001416 [Term] id: EFO:0000216 name: acinar cell carcinoma def: "A carcinoma that arises from epithelial cells of the acinar cell" [https://orcid.org/0000-0002-6601-2165] def: "A carcinoma that arises from epithelial cells of the acinar cell" [MONDO:DesignPattern] synonym: "ACCC" RELATED ABBREVIATION [ONCOTREE:ACCC] synonym: "acinar adenocarcinoma" EXACT [NCIT:C3768] synonym: "acinar carcinoma" EXACT [NCIT:C3768] synonym: "acinar cell adenocarcinoma" EXACT [NCIT:C3768] synonym: "acinar cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "acinar cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "acinar cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C3768] synonym: "acinar cell carcinoma (morphologic abnormality)" EXACT [DOID:3025] synonym: "acinic cell adenocarcinoma" EXACT [NCIT:C3768] synonym: "acinic cell carcinoma" EXACT [DOID:3025, NCIT:C3768] synonym: "acinic cell tumor" RELATED [GARD:0008568] synonym: "acinic cell tumour" RELATED OMO:0003005 [] synonym: "carcinoma of acinar cell" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma, acinar cell, malignant" EXACT [NCIT:C3768] xref: DOID:3025 {source="MONDO:equivalentTo", source="EFO:0000216"} xref: EFO:0000216 {source="MONDO:equivalentTo"} xref: GARD:0008568 {source="MONDO:equivalentTo"} xref: ICDO:8550/3 {source="NCIT:C3768"} xref: MESH:D018267 {source="DOID:3025", source="MONDO:equivalentTo", source="EFO:0000216"} xref: MONDO:0004965 xref: NCIT:C3768 {source="DOID:3025", source="MONDO:equivalentTo", source="EFO:0000216"} xref: ONCOTREE:ACCC {source="MONDO:equivalentTo"} xref: UMLS:C0206685 {source="DOID:3025", source="MONDO:equivalentTo", source="NCIT:C3768"} is_a: EFO:0000228 {source="MESH:D018267", source="NCIT:C3768"} ! adenocarcinoma property_value: closeMatch http://identifiers.org/snomedct/45410002 property_value: exactMatch DOID:3025 property_value: exactMatch DOID:3025 property_value: exactMatch http://identifiers.org/mesh/D018267 property_value: exactMatch http://identifiers.org/mesh/D018267 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206685 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206685 property_value: exactMatch NCIT:C3768 property_value: exactMatch NCIT:C3768 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:0000217 name: gastritis def: "A stomach disease that is an inflammation of the lining of the stomach." [] def: "Inflammation of the GASTRIC MUCOSA, a lesion observed in a number of unrelated disorders." [] def: "Inflammation of the stomach." [NCIT:C26780] synonym: "active gastritis" EXACT [] synonym: "acute gastric mucosal erosion" NARROW [DOID:4029] synonym: "acute gastric mucosal erosion (disorder)" EXACT [] synonym: "acute gastritis" EXACT [] synonym: "acute gastritis (disorder)" EXACT [] synonym: "acute gastritis with hemorrhage" EXACT [] synonym: "acute gastritis without mention of hemorrhage" EXACT [] synonym: "acute gastritis, with hemorrhage" EXACT [] synonym: "acute gastritis, without mention of hemorrhage" EXACT [] synonym: "acute haemorrhagic gastritis" EXACT [] synonym: "acute hemorrhagic gastritis (disorder)" EXACT [] synonym: "acute hemorrhagic gastritis [dup] (disorder)" EXACT [] synonym: "Erosive Gastritis" EXACT [] synonym: "erosive gastritis" NARROW [DOID:4029] synonym: "erosive gastropathy" NARROW [DOID:4029] synonym: "Erosive gastropathy (disorder)" EXACT [] synonym: "Gastric catarrh" EXACT [] synonym: "Gastritides" EXACT [] synonym: "Gastritis" EXACT [] synonym: "gastritis" EXACT [] {comment="preferred label from MONDO"} synonym: "gastritis" EXACT [MONDO:ambiguous, NCIT:C26780] synonym: "gastritis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Gastritis (disorder)" EXACT [] synonym: "Gastritis [Ambiguous]" EXACT [] synonym: "GASTRITIS HEMORRHAGIC" EXACT [] synonym: "Gastritis unspecified" EXACT [] synonym: "Gastritis unspecified (disorder)" EXACT [] synonym: "Gastritis, NOS" EXACT [] synonym: "Hemorrhagic Gastritis" EXACT [] synonym: "Idiopathic erosive/hemorrhagic gastritis (disorder)" EXACT [] synonym: "inflammation of stomach" EXACT [] synonym: "Other specified gastritis" EXACT [] synonym: "Other specified gastritis (disorder)" EXACT [] synonym: "Other specified gastritis NOS (disorder)" EXACT [] synonym: "Other specified gastritis, with hemorrhage" EXACT [] synonym: "Other specified gastritis, without mention of hemorrhage" EXACT [] synonym: "stomach inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:4029 {source="MONDO:equivalentTo", source="EFO:0000217"} xref: HP:0005263 {source="MONDO:otherHierarchy"} xref: ICD10:K29 xref: ICD9:535.0 {source="EFO:0000217"} xref: ICD9:535.00 {source="EFO:0000217"} xref: ICD9:535.01 {source="EFO:0000217"} xref: ICD9:535.4 {source="EFO:0000217"} xref: ICD9:535.40 {source="MONDO:relatedTo", source="MONDO:i2s", source="EFO:0000217"} xref: ICD9:535.41 {source="EFO:0000217"} xref: MedDRA:10017853 xref: MESH:D005756 {source="MONDO:equivalentTo", source="DOID:4029", source="EFO:0000217"} xref: MeSH:D005756 xref: MONDO:0004966 xref: NCIT:C26780 {source="MONDO:equivalentTo", source="DOID:4029", source="EFO:0000217"} xref: NCIt:C26780 xref: SCTID:4556007 {source="MONDO:equivalentTo", source="DOID:4029", source="EFO:0000217"} xref: SNOMEDCT:4556007 xref: UMLS:C0017152 {source="NCIT:C26780", source="MONDO:equivalentTo", source="DOID:4029"} xref: UMLS:C0267112 {source="MONDO:equivalentTo"} xref: UMLS:C2243088 {source="MONDO:equivalentTo"} xref: UMLS:C2243090 {source="MONDO:equivalentTo"} xref: UMLS:C3854048 {source="MONDO:equivalentTo"} is_a: EFO:0009608 {source="DOID:4029", source="MESH:D005756", source="MONDO:Redundant", source="NCIT:C26780/inferred"} ! stomach disease is_a: EFO:0009903 {source="MONDO:Redundant"} ! inflammatory disease relationship: EFO:0000784 UBERON:0000945 ! has_disease_location stomach property_value: exactMatch DOID:4029 property_value: exactMatch http://identifiers.org/mesh/D005756 property_value: exactMatch http://identifiers.org/snomedct/4556007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017152 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267112 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2243088 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2243090 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3854048 property_value: exactMatch NCIT:C26780 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000589 "gastritis (disease)" xsd:string [Term] id: EFO:0000218 name: acute erythroleukemia def: "An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)" [NCIT:C8923] subset: gard_rare {source="GARD:0009620"} subset: ordo_disease {source="Orphanet:318"} synonym: "acute erythroblastic leukaemia" EXACT OMO:0003005 [] synonym: "acute erythroblastic leukemia" EXACT [NCIT:C8923] synonym: "acute erythroid leukemia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "acute erythroid leukemia" EXACT [NCIT:C8923] synonym: "acute erythroid leukemia" EXACT [] {comment="preferred label from MONDO"} synonym: "acute erythroleukemia" RELATED [GARD:0009620] synonym: "acute erythroleukemia M6a subtype" RELATED [GARD:0009620] synonym: "acute erythroleukemia M6b subtype" RELATED [GARD:0009620] synonym: "acute myeloid leukaemia FAB-M6" RELATED OMO:0003005 [] synonym: "acute myeloid leukaemia M6" EXACT OMO:0003005 [] synonym: "acute myeloid leukemia FAB-M6" RELATED [GARD:0009620] synonym: "acute myeloid leukemia M6" EXACT [Orphanet:318] synonym: "AEL" EXACT ABBREVIATION [NCIT:C8923] synonym: "AML M6" EXACT [Orphanet:318] synonym: "AML-M6" RELATED [GARD:0009620] synonym: "Di Guglielmo syndrome" RELATED [GARD:0009620] synonym: "Di Guglielmo's syndrome" RELATED [GARD:0009750] synonym: "erythroblastic leukaemia" EXACT OMO:0003005 [] synonym: "erythroblastic leukemia" EXACT [NCIT:C8923] synonym: "Erythroleukemia" EXACT [Orphanet:318] synonym: "Erythroleukemia" RELATED [Orphanet:318] synonym: "FAB M6" EXACT [NCIT:C8923] synonym: "leukemia, erythroid, malignant" EXACT [NCIT:C8923] synonym: "M6 acute myeloid leukaemia" EXACT OMO:0003005 [] synonym: "M6 acute myeloid leukemia" EXACT [NCIT:C8923] xref: DOID:0080780 {source="MONDO:equivalentTo"} xref: GARD:0009620 {source="MONDO:equivalentTo"} xref: GARD:0009750 {source="MONDO:equivalentTo"} xref: ICD10:C94.0 {source="Orphanet:318", source="ORDO:318/ntbt"} xref: ICD9:205.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:205.80 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:207.00 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:207.00 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9840/3 {source="NCIT:C8923"} xref: MESH:D004915 {source="MONDO:equivalentTo"} xref: MONDO:0017858 xref: NCIT:C8923 {source="MONDO:equivalentTo"} xref: OMIM:133180 xref: Orphanet:318 {source="MONDO:equivalentTo"} xref: SCTID:93451002 {source="MONDO:equivalentTo"} xref: UMLS:C0023440 {source="MONDO:equivalentTo", source="Orphanet:318", source="GARD:0009750", source="NCIT:C8923"} is_a: MONDO:0015667 {source="NCIT:C8923", source="Orphanet:318"} ! acute myeloid leukemia by FAB classification is_a: MONDO:0020703 {source="NCIT:C8923"} ! erythroid neoplasm property_value: exactMatch DOID:0080780 property_value: exactMatch http://identifiers.org/mesh/D004915 property_value: exactMatch http://identifiers.org/mesh/D004915 property_value: exactMatch http://identifiers.org/snomedct/93451002 property_value: exactMatch http://identifiers.org/snomedct/93451002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023440 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023440 property_value: exactMatch NCIT:C8923 property_value: exactMatch NCIT:C8923 property_value: exactMatch Orphanet:318 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9620/acute-erythroid-leukemia xsd:anyURI {source="GARD:0009620"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9750/di-guglielmos-syndrome xsd:anyURI {source="GARD:0009750"} [Term] id: EFO:0000219 name: obsolete_acute lymphoblastic leukemia def: "A neoplasm of immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage. Neoplasms involving the bone marrow and the peripheral blood are called precursor lymphoblastic leukemias or acute lymphoblastic leukemias. Neoplasms involving primarily lymph nodes or extranodal sites are called lymphoblastic lymphomas. -- 2003" [] xref: DOID:5600 xref: NCIt:C7055 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.5" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate with acute lymphocytic leukemia (EFO_0000220)" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000220 [Term] id: EFO:0000220 name: acute lymphoblastic leukemia def: "Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia." [NCIT:C3167] subset: disease_grouping subset: gard_rare subset: ordo_group_of_disorders {source="Orphanet:513"} synonym: "acute lymphoblastic leukaemia (ALL)" EXACT OMO:0003005 [] synonym: "acute lymphoblastic leukaemia (disease)" EXACT OMO:0003005 [] synonym: "acute lymphoblastic leukemia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "acute lymphoblastic leukemia" EXACT [] {comment="preferred label from MONDO"} synonym: "acute lymphoblastic leukemia" EXACT [DOID:9952, MONDO:ambiguous, NCIT:C3167] synonym: "acute lymphoblastic leukemia (ALL)" EXACT [NCIT:C3167] synonym: "acute lymphoblastic leukemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "acute lymphoblastic leukemia/lymphoma" EXACT [Orphanet:513] synonym: "acute lymphocytic leukaemia" EXACT [NCIT:C3167] synonym: "acute lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "acute lymphocytic leukemia" EXACT [GARD:0000522, NCIT:C3167, Orphanet:513] synonym: "acute lymphocytic leukemias" EXACT [NCIT:C3167] synonym: "acute lymphogenous leukaemia" EXACT OMO:0003005 [] synonym: "acute lymphogenous leukemia" EXACT [NCIT:C3167] synonym: "acute lymphoid leukaemia" EXACT OMO:0003005 [] synonym: "acute lymphoid leukemia" EXACT [NCIT:C3167] synonym: "ALL" EXACT ABBREVIATION [GARD:0000522, NCIT:C3167, Orphanet:513] synonym: "ALL - acute lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "ALL - acute lymphocytic leukemia" EXACT [NCIT:C3167] synonym: "leukemia, lymphoblastic, malignant" EXACT [NCIT:C3167] synonym: "lymphoblastic leukaemia" BROAD OMO:0003005 [] synonym: "lymphoblastic leukemia" BROAD [NCIT:C3167] synonym: "lymphoblastic leukemia, acute" EXACT [MONDO:patterns/acute] synonym: "precursor cell lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "precursor cell lymphoblastic leukemia" EXACT [NCIT:C3167] synonym: "precursor Lymphoblasic leukaemia" EXACT OMO:0003005 [] synonym: "precursor Lymphoblasic leukemia" EXACT [NCIT:C3167] synonym: "precursor lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "precursor lymphoblastic leukemia" EXACT [NCIT:C3167] xref: COHD:134305 {source="MONDO:equivalentTo"} xref: DOID:1037 {source="MONDO:obsoleteEquivalent"} xref: DOID:9952 {source="EFO:0000220", source="MONDO:equivalentTo"} xref: EFO:0000220 {source="DOID:9952", source="MONDO:equivalentTo"} xref: GARD:0000522 {source="MONDO:equivalentTo"} xref: HP:0006721 {source="MONDO:otherHierarchy"} xref: ICD10:C91 {source="DOID:1037"} xref: ICD10:C91.0 {source="DOID:9952", source="ORDO:513/e", source="Orphanet:513"} xref: ICD10:C91.00 {source="DOID:9952"} xref: ICD10:C91.9 {source="DOID:1037"} xref: ICD10:C91.90 {source="DOID:1037"} xref: ICD9:204 {source="DOID:1037"} xref: ICD9:204.0 {source="DOID:9952", source="EFO:0000220"} xref: ICD9:204.00 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:204.00 {source="MONDO:equivalentTo", source="i2s"} xref: ICD9:204.9 {source="DOID:1037"} xref: ICDO:9835/3 {source="NCIT:C3167"} xref: MONDO:0004967 xref: NCIT:C3167 {source="DOID:9952", source="EFO:0000220", source="MONDO:equivalentTo"} xref: Orphanet:513 {source="DOID:9952", source="MONDO:equivalentTo", source="GARD:0000522"} xref: SCTID:91857003 {source="DOID:9952", source="EFO:0000220", source="MONDO:equivalentTo"} is_a: EFO:0002425 {source="EFO:0000220"} ! neoplasm of immature B and T cells is_a: EFO:0004289 {source="NCIT:C3167"} ! lymphoid leukemia is_a: EFO:0005952 {source="Orphanet:513"} ! non-Hodgkins lymphoma is_a: EFO:0009119 {source="EFO:0000220", source="NCIT:C3167"} ! precursor lymphoblastic lymphoma/leukemia is_a: EFO:1000068 ! Acute Leukemia property_value: closeMatch http://identifiers.org/mesh/D015452 property_value: closeMatch http://identifiers.org/mesh/D054198 property_value: closeMatch http://identifiers.org/snomedct/128807009 property_value: closeMatch http://identifiers.org/snomedct/128822004 property_value: closeMatch http://identifiers.org/snomedct/128823009 property_value: closeMatch http://identifiers.org/snomedct/154587007 property_value: closeMatch http://identifiers.org/snomedct/154588002 property_value: closeMatch http://identifiers.org/snomedct/188725004 property_value: closeMatch http://identifiers.org/snomedct/188731001 property_value: closeMatch http://identifiers.org/snomedct/190033006 property_value: closeMatch http://identifiers.org/snomedct/190034000 property_value: closeMatch http://identifiers.org/snomedct/269631008 property_value: closeMatch http://identifiers.org/snomedct/32280000 property_value: closeMatch http://identifiers.org/snomedct/900000000000452009 property_value: closeMatch http://identifiers.org/snomedct/90151006 property_value: closeMatch http://identifiers.org/snomedct/93170002 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0023449 property_value: exactMatch DOID:1037 property_value: exactMatch DOID:9952 property_value: exactMatch DOID:9952 property_value: exactMatch http://identifiers.org/snomedct/91857003 property_value: exactMatch http://identifiers.org/snomedct/91857003 property_value: exactMatch NCIT:C3167 property_value: exactMatch NCIT:C3167 property_value: exactMatch Orphanet:513 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000589 "acute lymphoblastic leukemia (disease)" xsd:string [Term] id: EFO:0000221 name: acute monocytic leukemia def: "Acute monoblastic leukemia (AML-M5), is one of the most common subtypes of acute myeloid leukemia (AML) that is either comprised of more than 80% of monoblasts (AML-M5a) or 30-80% monoblasts with (pro)monocytic differentiation (AML-M5b). AML-M5 presents with asthenia, pallor, fever, and dizziness. Specific features of AML-M5 include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed in AML-M5 is t(9;11)." [Orphanet:514] subset: gard_rare subset: ordo_disease {source="Orphanet:514"} synonym: "acute monoblastic leukaemia" RELATED OMO:0003005 [] synonym: "acute monoblastic leukaemia and acute monocytic leukaemia" EXACT OMO:0003005 [] synonym: "acute monoblastic leukemia" RELATED [GARD:0000525] synonym: "acute monoblastic leukemia and acute monocytic leukemia" EXACT [DOID:8864, NCIT:C7318] synonym: "acute monoblastic/monocytic leukaemia" RELATED OMO:0003005 [] synonym: "acute monoblastic/monocytic leukemia" RELATED [ONCOTREE:AMOL] synonym: "acute monocytic leukaemia (FAB M5B)" EXACT OMO:0003005 [] synonym: "acute monocytic leukaemia (FAB M5b)" EXACT OMO:0003005 [] synonym: "acute monocytic leukaemia without mention of remission" EXACT OMO:0003005 [] synonym: "acute monocytic leukemia" EXACT [GARD:0000525, NCIT:C4861, Orphanet:514] synonym: "acute monocytic leukemia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "acute monocytic leukemia" EXACT [] {comment="preferred label from MONDO"} synonym: "acute monocytic leukemia (FAB M5B)" EXACT [NCIT:C4861] synonym: "acute monocytic leukemia (FAB M5b)" EXACT [NCIT:C4861] synonym: "acute monocytic leukemia without mention of remission" EXACT [DOID:8864] synonym: "acute monocytic leukemia, FAB M5" EXACT [DOID:8864] synonym: "acute monocytic leukemia, morphology" EXACT [DOID:8864] synonym: "acute monocytic leukemia, morphology (morphologic abnormality)" EXACT [DOID:8864] synonym: "acute myeloblastic leukaemia type 5" RELATED OMO:0003005 [] synonym: "acute myeloblastic leukemia type 5" RELATED [GARD:0000525] synonym: "AML M5" EXACT [GARD:0000525, Orphanet:514] synonym: "AML-M5" RELATED [GARD:0000525] synonym: "leukemia, acute monocytic" RELATED [OMIM:151380] synonym: "leukemia, monocytic, malignant" EXACT [NCIT:C4861] synonym: "monocytic leukaemia" BROAD OMO:0003005 [] synonym: "monocytic leukemia" BROAD [NCIT:C4861] synonym: "monocytic leukemia" EXACT [NCIT:C4861] synonym: "monocytic leukemia, acute" EXACT [MONDO:patterns/acute] xref: COHD:135768 {source="MONDO:equivalentTo"} xref: CSP:2004-2820 {source="DOID:8864"} xref: DOID:8864 {source="EFO:0000221", source="MONDO:equivalentTo"} xref: EFO:0000221 {source="MONDO:equivalentTo"} xref: GARD:0000525 {source="MONDO:equivalentTo"} xref: ICD10:C92.7 {source="Orphanet:514", source="ORDO:514/ntbt"} xref: ICD9:206.0 {source="DOID:8864", source="EFO:0000221"} xref: ICDO:9891/3 {source="NCIT:C4861"} xref: MedDRA:10000871 {source="ORDO:514/e", source="Orphanet:514"} xref: MedDRA:10000871 {source="Orphanet:514", source="Orphanet:514/e"} xref: MedDRA:10059439 {source="ORDO:514/e", source="Orphanet:514"} xref: MedDRA:10059439 {source="Orphanet:514", source="Orphanet:514/e"} xref: MESH:D007948 {source="DOID:8864", source="EFO:0000221", source="Orphanet:514", source="MONDO:equivalentTo", source="Orphanet:514/e"} xref: MESH:D007948 {source="DOID:8864", source="ORDO:514/e", source="EFO:0000221", source="Orphanet:514", source="MONDO:equivalentTo"} xref: MONDO:0007896 xref: NCIT:C4861 {source="EFO:0000221", source="MONDO:equivalentTo"} xref: OMIM:151380 {source="DOID:8864", source="EFO:0000221", source="MONDO:equivalentTo"} xref: ONCOTREE:AMOL {source="MONDO:equivalentTo"} xref: Orphanet:514 {source="MONDO:equivalentTo", source="GARD:0000525"} xref: SCTID:413441006 {source="DOID:8864", source="EFO:0000221", source="MONDO:equivalentTo"} xref: UMLS:C0023465 {source="DOID:8864", source="OMIM:151380", source="Orphanet:514", source="MONDO:equivalentTo", source="NCIT:C4861"} xref: UMLS:C0023479 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:directSiblingOf"} xref: UMLS:C1318544 {source="Orphanet:514", source="MONDO:equivalentTo", source="Orphanet:514/e"} xref: UMLS:C1318544 {source="ORDO:514/e", source="Orphanet:514", source="MONDO:equivalentTo"} is_a: EFO:0000222 {source="EFO:0000221", source="MESH:D007948", source="NCIT:C4861/inferred", source="ONCOTREE:AMOL/inferred", source="Orphanet:514/inferred"} ! acute myeloid leukemia is_a: MONDO:0004600 {source="DOID:8864", source="MONDO:Redundant"} ! monocytic leukemia property_value: closeMatch http://identifiers.org/meddra/10000871 property_value: closeMatch http://identifiers.org/meddra/10059439 property_value: closeMatch http://identifiers.org/snomedct/154594005 property_value: closeMatch http://identifiers.org/snomedct/22331004 property_value: closeMatch http://identifiers.org/snomedct/91859000 property_value: exactMatch DOID:8864 property_value: exactMatch DOID:8864 property_value: exactMatch http://identifiers.org/meddra/10000871 property_value: exactMatch http://identifiers.org/meddra/10059439 property_value: exactMatch http://identifiers.org/mesh/D007948 property_value: exactMatch http://identifiers.org/mesh/D007948 property_value: exactMatch http://identifiers.org/omim/151380 property_value: exactMatch http://identifiers.org/snomedct/413441006 property_value: exactMatch http://identifiers.org/snomedct/413441006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023465 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023465 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0457334 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1318544 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1318544 property_value: exactMatch https://omim.org/entry/151380 property_value: exactMatch NCIT:C4861 property_value: exactMatch NCIT:C4861 property_value: exactMatch Orphanet:514 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql property_value: excluded_subClassOf MONDO:0011118 {source="EFO:0000221"} property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/acute.yaml property_value: seeAlso https://rarediseases.info.nih.gov/diseases/525/acute-monoblastic-leukemia xsd:anyURI {source="GARD:0000525"} [Term] id: EFO:0000222 name: acute myeloid leukemia def: "Acute myeloid leukemia (AML) is a group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. AML manifests by fever, pallor, anemia, hemorrhages and recurrent infections." [Orphanet:519] subset: disease_grouping subset: gard_rare {source="GARD:0012757"} subset: ordo_group_of_disorders {source="Orphanet:519"} synonym: "acute granulocytic leukaemia" EXACT OMO:0003005 [] synonym: "acute granulocytic leukemia" EXACT [NCIT:C3171] synonym: "acute myeloblastic leukaemia" EXACT OMO:0003005 [] synonym: "acute myeloblastic leukemia" EXACT [DOID:9119, NCIT:C3171] synonym: "acute myelocytic leukaemia" EXACT OMO:0003005 [] synonym: "acute myelocytic leukemia" EXACT [NCIT:C3171] synonym: "acute myelogenous leukaemia" EXACT OMO:0003005 [] synonym: "acute myelogenous leukemia" EXACT [DOID:9119, NCIT:C3171, Orphanet:519] synonym: "acute myelogenous leukemias" EXACT [NCIT:C3171] synonym: "acute myeloid leukaemia (AML)" EXACT OMO:0003005 [] synonym: "acute myeloid leukemia" EXACT [NCIT:C3171] synonym: "acute myeloid leukemia" EXACT [] {comment="preferred label from MONDO"} synonym: "acute myeloid leukemia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "acute myeloid leukemia (AML)" EXACT [NCIT:C3171] synonym: "acute myeloid leukemia, somatic" EXACT [OMIM:601626, OMIM:genemap2] synonym: "acute non lymphoblastic leukaemia" RELATED OMO:0003005 [] synonym: "acute non lymphoblastic leukemia" RELATED [GARD:0000537] synonym: "acute Nonlymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "acute nonlymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "acute Nonlymphocytic leukemia" EXACT [NCIT:C3171] synonym: "acute nonlymphocytic leukemia" EXACT [NCIT:C3171] synonym: "AML" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C3171, OMIM:601626, Orphanet:519] synonym: "AML - acute myeloid leukaemia" EXACT OMO:0003005 [] synonym: "AML - acute myeloid leukemia" EXACT [DOID:9119, NCIT:C3171] synonym: "ANLL" EXACT ABBREVIATION [NCIT:C3171] synonym: "hematopoeitic - acute Myleogenous leukaemia (AML)" EXACT OMO:0003005 [] synonym: "hematopoeitic - acute Myleogenous leukemia (AML)" EXACT [NCIT:C3171] synonym: "leukemia, acute myelogenous" RELATED [OMIM:601626] synonym: "leukemia, acute myeloid" RELATED [MONDO:Lexical, OMIM:601626] synonym: "leukemia, acute myeloid, autosomal dominant, somatic mutation" EXACT [OMIM:601626, OMIM:genemap2] synonym: "leukemia, acute myeloid, reduced survival in, somatic" EXACT [OMIM:601626, OMIM:genemap2] synonym: "leukemia, acute myeloid, somatic" EXACT [OMIM:601626, OMIM:genemap2] synonym: "leukemia, acute myeloid, susceptibility to" RELATED [OMIM:601626] synonym: "leukemia, acute myeloid, susceptibility to, autosomal dominant, somatic mutation" EXACT [OMIM:601626, OMIM:genemap2] synonym: "leukemia, myelocytic, acute" EXACT [DOID:9119, MTH:NOCODE] synonym: "myeloid leukemia, acute" EXACT [MONDO:patterns/acute] synonym: "myeloid leukemia, acute, M4/M4Eo subtype, somatic" EXACT [OMIM:601626, OMIM:genemap2] xref: DOID:9119 {source="EFO:0000222", source="MONDO:equivalentTo"} xref: EFO:0000222 {source="MONDO:equivalentTo"} xref: GARD:0000537 {source="MONDO:equivalentTo"} xref: GARD:0012757 {source="MONDO:equivalentTo"} xref: ICD10:C92.0 {source="DOID:9119", source="ORDO:519/e", source="Orphanet:519"} xref: ICD10:C92.00 {source="DOID:9119"} xref: ICD9:205.0 {source="DOID:9119", source="EFO:0000222"} xref: ICD9:205.00 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:205.00 {source="MONDO:equivalentTo", source="i2s"} xref: ICDO:9861/3 {source="NCIT:C3171"} xref: KEGG:05221 {source="DOID:9119", source="MONDO:relatedTo"} xref: MedDRA:10000880 {source="Orphanet:519", source="Orphanet:519/e"} xref: MedDRA:10000880 {source="ORDO:519/e", source="Orphanet:519"} xref: MESH:D015470 {source="DOID:9119", source="EFO:0000222", source="MONDO:equivalentTo", source="Orphanet:519", source="Orphanet:519/e"} xref: MESH:D015470 {source="DOID:9119", source="EFO:0000222", source="MONDO:equivalentTo", source="ORDO:519/e", source="Orphanet:519"} xref: MONDO:0018874 xref: NCIT:C3171 {source="DOID:9119", source="EFO:0000222", source="MONDO:equivalentTo"} xref: OMIM:601626 {source="DOID:9119", source="EFO:0000222", source="MONDO:equivalentTo", source="Orphanet:519", source="Orphanet:519/e"} xref: OMIM:601626 {source="DOID:9119", source="EFO:0000222", source="MONDO:equivalentTo", source="ORDO:519/e", source="Orphanet:519"} xref: ONCOTREE:AML {source="MONDO:equivalentTo"} xref: Orphanet:519 {source="MONDO:equivalentTo"} xref: SCTID:91861009 {source="DOID:9119", source="MONDO:equivalentTo"} xref: UMLS:C0023467 {source="NCIT:C3171", source="DOID:9119", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:519/e", source="Orphanet:519", source="GARD:0000537", source="OMIM:601626"} xref: UMLS:C0023467 {source="NCIT:C3171", source="DOID:9119", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:519", source="GARD:0000537", source="OMIM:601626", source="Orphanet:519/e"} is_a: EFO:1000068 ! Acute Leukemia is_a: MONDO:0004643 {source="DOID:9119", source="MESH:D015470", source="MONDO:Redundant", source="NCIT:C3171"} ! myeloid leukemia relationship: disease_has_feature MONDO:0002280 {source="MONDO:Wikidata"} ! anemia relationship: EFO:0000784 CL:0000763 ! has_disease_location myeloid cell property_value: closeMatch http://identifiers.org/meddra/10000880 property_value: closeMatch http://identifiers.org/snomedct/154591002 property_value: closeMatch http://identifiers.org/snomedct/17788007 property_value: closeMatch http://identifiers.org/snomedct/277600006 property_value: closeMatch http://identifiers.org/snomedct/413443009 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3275959 property_value: exactMatch DOID:9119 property_value: exactMatch DOID:9119 property_value: exactMatch http://identifiers.org/meddra/10000880 property_value: exactMatch http://identifiers.org/mesh/D015470 property_value: exactMatch http://identifiers.org/mesh/D015470 property_value: exactMatch http://identifiers.org/omim/601626 property_value: exactMatch http://identifiers.org/snomedct/91861009 property_value: exactMatch http://identifiers.org/snomedct/91861009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023467 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023467 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1879321 property_value: exactMatch https://omim.org/entry/601626 property_value: exactMatch NCIT:C3171 property_value: exactMatch NCIT:C3171 property_value: exactMatch Orphanet:519 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/acute.yaml property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12757/acute-myeloid-leukemia xsd:anyURI {source="GARD:0012757"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/537/acute-non-lymphoblastic-leukemia xsd:anyURI {source="GARD:0000537"} [Term] id: EFO:0000223 name: acute myelomonocytic leukemia def: "An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. (WHO, 2001)" [NCIT:C7463] subset: gard_rare subset: ordo_disease {source="Orphanet:517"} synonym: "acute M4 myeloid leukaemia" EXACT OMO:0003005 [] synonym: "acute M4 myeloid leukemia" EXACT [NCIT:C7463] synonym: "acute myeloblastic leukaemia type 4" RELATED OMO:0003005 [] synonym: "acute myeloblastic leukemia type 4" RELATED [GARD:0000529] synonym: "acute myelomonocytic leukaemia" EXACT OMO:0003005 [] synonym: "acute myelomonocytic leukaemia (FAB type M4)" EXACT OMO:0003005 [] synonym: "acute myelomonocytic leukemia" EXACT [NCIT:C7463] synonym: "acute myelomonocytic leukemia (FAB type M4)" EXACT [NCIT:C7463] synonym: "acute myelomonocytic leukemia M4" EXACT [] {comment="preferred label from MONDO"} synonym: "acute myelomonocytic leukemia M4" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "AML M4" EXACT [GARD:0000529, Orphanet:517] synonym: "AML-M4" RELATED [GARD:0000529] synonym: "AMML" EXACT ABBREVIATION [NCIT:C7463] synonym: "AMMoL" EXACT [GARD:0000529, Orphanet:517] xref: DOID:0081082 {source="MONDO:equivalentTo"} xref: EFO:0000223 {source="MONDO:equivalentTo"} xref: GARD:0000529 {source="MONDO:equivalentTo"} xref: ICD10:C92.5 {source="ORDO:517/e", source="Orphanet:517"} xref: ICDO:9867/3 {source="NCIT:C7463"} xref: MedDRA:10000890 {source="ORDO:517/e", source="Orphanet:517"} xref: MedDRA:10000890 {source="Orphanet:517", source="Orphanet:517/e"} xref: MONDO:0018871 xref: NCIT:C7463 {source="MONDO:equivalentTo", source="EFO:0000223"} xref: ONCOTREE:AMML {source="MONDO:equivalentTo"} xref: Orphanet:517 {source="MONDO:equivalentTo", source="GARD:0000529"} xref: SCTID:110005000 {source="MONDO:equivalentTo"} xref: UMLS:C0023479 {source="NCIT:C7463", source="ORDO:517/e", source="MONDO:equivalentTo", source="Orphanet:517"} xref: UMLS:C0023479 {source="NCIT:C7463", source="MONDO:equivalentTo", source="Orphanet:517", source="Orphanet:517/e"} is_a: MONDO:0015667 {source="NCIT:C7463"} ! acute myeloid leukemia by FAB classification property_value: closeMatch http://identifiers.org/meddra/10000890 property_value: closeMatch http://identifiers.org/snomedct/30962008 property_value: exactMatch DOID:0081082 property_value: exactMatch http://identifiers.org/meddra/10000890 property_value: exactMatch http://identifiers.org/mesh/D015479 property_value: exactMatch http://identifiers.org/snomedct/110005000 property_value: exactMatch http://identifiers.org/snomedct/110005000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023479 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023479 property_value: exactMatch NCIT:C7463 property_value: exactMatch NCIT:C7463 property_value: exactMatch Orphanet:517 property_value: excluded_subClassOf MONDO:0011118 {source="EFO:0000223"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/529/acute-myelomonocytic-leukemia xsd:anyURI {source="GARD:0000529"} [Term] id: EFO:0000224 name: acute promyelocytic leukemia def: "Acute promyelocytic leukemia (APL) is an aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue." [Orphanet:520] def: "An aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue." [Orphanet:520] subset: ordo_disease {source="Orphanet:520"} synonym: "acute myeloblastic leukaemia 3" EXACT OMO:0003005 [] synonym: "acute myeloblastic leukaemia type 3" EXACT OMO:0003005 [] synonym: "acute myeloblastic leukemia 3" EXACT [Orphanet:520] synonym: "acute myeloblastic leukemia type 3" EXACT [DOID:0060318] synonym: "acute myeloid leukaemia M3" EXACT OMO:0003005 [] synonym: "acute myeloid leukaemia with t(15;17)(q22;q12);(PML/RARalpha) and variants" EXACT OMO:0003005 [] synonym: "acute myeloid leukemia M3" EXACT [DOID:0060318] synonym: "acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants" EXACT [Orphanet:520] synonym: "acute promyelocytic leukaemia with PML-rara" EXACT OMO:0003005 [] synonym: "acute promyelocytic leukaemia with t(15;17)(q22;q12); PML-rara" EXACT OMO:0003005 [] synonym: "acute promyelocytic leukaemia with t(15;17)(q22;q12); PML/rara" EXACT OMO:0003005 [] synonym: "acute promyelocytic leukemia" EXACT [MONDO:Lexical, OMIM:612376] synonym: "acute promyelocytic leukemia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "acute promyelocytic leukemia" EXACT [] {comment="preferred label from MONDO"} synonym: "acute promyelocytic leukemia with PML-rara" EXACT [NCIT:C3182] synonym: "acute promyelocytic leukemia with t(15;17)(q22;q12); PML-rara" EXACT [NCIT:C3182] synonym: "acute promyelocytic leukemia with t(15;17)(q22;q12); PML/rara" EXACT [NCIT:C3182] synonym: "AML M3" EXACT [Orphanet:520] synonym: "AML with t(15;17)(q22;q12)" EXACT [NCIT:C3182] synonym: "AML with t(15;17)(q22;q12);(PML/RARalpha) and variants" EXACT [Orphanet:520] synonym: "APL" EXACT ABBREVIATION [DOID:0060318, MONDO:Lexical, OMIM:612376] synonym: "APL" RELATED ABBREVIATION [DOID:0060318, MONDO:Lexical, OMIM:612376] synonym: "APML" EXACT ABBREVIATION [Orphanet:520] synonym: "APML - acute promyelocytic leukaemia" EXACT OMO:0003005 [] synonym: "APML - acute promyelocytic leukemia" EXACT [NCIT:C3182] synonym: "FAB M3" EXACT [NCIT:C3182] synonym: "leukemia, acute promyelocytic" RELATED [OMIM:612376] synonym: "leukemia, acute promyelocytic, somatic" EXACT [OMIM:612376, OMIM:genemap2] synonym: "promyelocytic leukaemia" EXACT OMO:0003005 [] synonym: "promyelocytic leukemia" EXACT [NCIT:C3182] xref: DOID:0060318 {source="EFO:0000224", source="MONDO:equivalentTo"} xref: DOID:0081081 {source="MONDO:equivalentTo"} xref: EFO:0000224 {source="MONDO:equivalentTo"} xref: GARD:0000538 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: ICD10:C92.4 {source="DOID:0060318", source="ORDO:520/e", source="Orphanet:520"} xref: ICD10:C92.40 {source="DOID:0060318"} xref: ICDO:9866/3 {source="NCIT:C3182"} xref: MedDRA:10001019 {source="ORDO:520/e", source="Orphanet:520"} xref: MedDRA:10001019 {source="Orphanet:520/e", source="Orphanet:520"} xref: MESH:D015473 {source="Orphanet:520/e", source="MONDO:equivalentTo", source="DOID:0060318", source="Orphanet:520"} xref: MESH:D015473 {source="MONDO:equivalentTo", source="DOID:0060318", source="ORDO:520/e", source="Orphanet:520"} xref: MONDO:0012883 xref: NCIT:C3182 {source="EFO:0000224", source="MONDO:equivalentTo", source="DOID:0060318"} xref: OMIM:612376 {source="EFO:0000224", source="MONDO:equivalentTo", source="DOID:0060318", source="ORDO:520/e", source="Orphanet:520"} xref: OMIM:612376 {source="Orphanet:520/e", source="EFO:0000224", source="MONDO:equivalentTo", source="DOID:0060318", source="Orphanet:520"} xref: Orphanet:520 {source="OMIM:612376", source="MONDO:equivalentTo", source="DOID:0060318"} xref: SCTID:110004001 {source="MONDO:equivalentTo", source="DOID:0060318"} xref: UMLS:C0023487 {source="NCIT:C3182", source="OMIM:612376", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060318", source="ORDO:520/e", source="Orphanet:520"} xref: UMLS:C0023487 {source="NCIT:C3182", source="OMIM:612376", source="Orphanet:520/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:0060318", source="Orphanet:520"} is_a: EFO:0000222 {source="NCIT:C3182", source="Orphanet:520"} ! acute myeloid leukemia property_value: closeMatch http://identifiers.org/meddra/10001019 property_value: closeMatch http://identifiers.org/snomedct/28950004 property_value: exactMatch DOID:0060318 property_value: exactMatch DOID:0060318 property_value: exactMatch DOID:0081081 property_value: exactMatch http://identifiers.org/meddra/10001019 property_value: exactMatch http://identifiers.org/mesh/D015473 property_value: exactMatch http://identifiers.org/mesh/D015473 property_value: exactMatch http://identifiers.org/omim/612376 property_value: exactMatch http://identifiers.org/snomedct/110004001 property_value: exactMatch http://identifiers.org/snomedct/110004001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023487 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023487 property_value: exactMatch https://omim.org/entry/612376 property_value: exactMatch NCIT:C3182 property_value: exactMatch NCIT:C3182 property_value: exactMatch Orphanet:520 property_value: excluded_subClassOf MONDO:0011118 {source="DOID:0060318", source="EFO:0000224"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: EFO:0000225 name: acute quadriplegic myopathy def: "Acute Quadriplegic Myopathy (AQM) is a specific acquired myopathy in ICU patients. Patients with AQM are characterized by severe muscle weakness and atrophy of spinal nerve innervated limb and trunk muscles, while cranial nerve innervated craniofacial muscles, sensory and cognitive functions are spared or less affected. The muscle weakness is associated with altered muscle membrane properties and a preferential loss of the motor protein myosin and myosin-associated thick filament proteins. Prolonged mechanical ventilation, muscle unloading, postsynaptic block of neuromuscular transmission, sepsis and systemic corticosteroid hormone treatment have been suggested as important triggering factors in AQM." [] def: "Acute quadriplegic myopathy (AQM) is a specific acquired myopathy in ICU patients. Patients with AQM are characterized by severe muscle weakness and atrophy of spinal nerve innervated limb and trunk muscles, while cranial nerve innervated craniofacial muscles, sensory and cognitive functions are spared or less affected. The muscle weakness is associated with altered muscle membrane properties and a preferential loss of the motor protein myosin and myosin-associated thick filament proteins. Prolonged mechanical ventilation, muscle unloading, postsynaptic block of neuromuscular transmission, sepsis and systemic corticosteroid hormone treatment have been suggested as important triggering factors in AQM." [EFO:0000225] synonym: "acute quadriplegic myopathy" EXACT [] {comment="preferred label from MONDO"} xref: ISBN:978-0-387-84846-4 xref: ISBN:978-0-387-84847-1 xref: MONDO:0004969 xref: NCIm:C1135345 is_a: EFO:0004145 {source="EFO:0000225"} ! myopathy is_a: MONDO:0020683 ! acute disease relationship: EFO:0000784 UBERON:0001015 ! has_disease_location musculature property_value: definition:citation "The Sarcomere and Skeletal Muscle Diseases. Advances in Experimental Medicine and Biology Volume 642, 2008, pp92-98. Print ISBN:978-0-387-84846-4, Online ISBN:978-0-387-84847-1" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0000226 name: obsolete_adaxial cells property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/ZFA_0000003 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/ZFA_0000003 [Term] id: EFO:0000227 name: obsolete_adductor mandibulae complex def: "Is a mandibular muscle that consists of three subdivisions A1, A2, and A3. All three originate on the hyomandibula and suspensorium but each has a distinct insertion. A1 inserts on the maxilla, A2 inserts along the caudal margin of the articular and A3 inserts on the medial surface of the articular." [] xref: ZFA:0000311 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0011683\nlabel: adductor mandibulae" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0011683 [Term] id: EFO:0000228 name: adenocarcinoma def: "A common cancer characterized by the presence of malignant glandular cells. Morphologically, adenocarcinomas are classified according to the growth pattern (e.g., papillary, alveolar) or according to the secreting product (e.g., mucinous, serous). Representative examples of adenocarcinoma are ductal and lobular breast carcinoma, lung adenocarcinoma, renal cell carcinoma, hepatocellular carcinoma (hepatoma), colon adenocarcinoma, and prostate adenocarcinoma." [NCIT:C2852] synonym: "adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "adenocarcinoma" EXACT [NCIT:C2852] synonym: "adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "adenocarcinoma NOS (morphologic abnormality)" EXACT [DOID:299] synonym: "adenocarcinoma, malignant" EXACT [NCIT:C2852] synonym: "adenocarcinoma, no subtype (morphologic abnormality)" EXACT [DOID:299] synonym: "adenocarcinomas" EXACT [DOID:299] synonym: "ADNOS" RELATED ABBREVIATION [ONCOTREE:ADNOS] xref: CRISP Thesaurus 2006\, Term Number 2000-0386\, http://crisp.cit.nih.gov/Thesaurus/00000107.htm Date accessed\: 1st Novemeber 2007 xref: CSP:2000-0386 {source="DOID:299"} xref: DOID:299 {source="MONDO:equivalentTo", source="EFO:0000228"} xref: EFO:0000228 {source="MONDO:equivalentTo"} xref: ICDO:8140/3 {source="NCIT:C2852"} xref: MESH:D000230 {source="MONDO:equivalentTo", source="EFO:0000228", source="DOID:299"} xref: MONDO:0004970 xref: NCIT:C2852 {source="MONDO:equivalentTo", source="EFO:0000228", source="MONDO:exact-label-match", source="DOID:299"} xref: NCIT:C2852 {source="MONDO:equivalentTo", source="EFO:0000228", source="DOID:299", source="exact-label-match"} xref: ONCOTREE:ADNOS {source="MONDO:equivalentTo"} xref: SCTID:443961001 {source="MONDO:equivalentTo", source="DOID:299"} xref: UMLS:C0001418 {source="MONDO:equivalentTo", source="NCIT:C2852", source="DOID:299"} is_a: EFO:0000313 {source="DOID:299", source="EFO:0000228", source="MESH:D000230", source="NCIT:C2852"} ! carcinoma is_a: MONDO:0024276 {source="NCIT:C2852"} ! glandular cell neoplasm disjoint_from: EFO:0000232 ! adenoma relationship: EFO:0000784 CL:0000066 ! has_disease_location epithelial cell property_value: closeMatch http://identifiers.org/snomedct/189578007 property_value: closeMatch http://identifiers.org/snomedct/189582009 property_value: closeMatch http://identifiers.org/snomedct/35917007 property_value: exactMatch DOID:299 property_value: exactMatch DOID:299 property_value: exactMatch http://identifiers.org/mesh/D000230 property_value: exactMatch http://identifiers.org/mesh/D000230 property_value: exactMatch http://identifiers.org/snomedct/443961001 property_value: exactMatch http://identifiers.org/snomedct/443961001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001418 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001418 property_value: exactMatch NCIT:C2852 property_value: exactMatch NCIT:C2852 [Term] id: EFO:0000229 name: obsolete_adenohypophyseal placode synonym: "pituitary placode" EXACT [] xref: ZFA:0001198 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0009122\nlabel: adenohypophyseal placode" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0009122 [Term] id: EFO:0000230 name: obsolete_adenohypophysis def: "The anterior glandular lobe of the pituitary gland." [] def: "The anterior lobe of the hypophysis (pituitary gland). This lobe contains cells that produce prolactin, growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone and proopiomelanocortin. In contrast to mammalian vertebrates, the adenohypophysis remains in a subepithelial position and there exists no equivalent of Rathke's pouch in zebrafish." [] synonym: "anterior hypophysis" EXACT [] synonym: "anterior lobe of pituitary" EXACT [] synonym: "anterior pituitary" EXACT [] synonym: "anterior pituitary gland" EXACT [] xref: BTO:0000040 xref: NIFSTD:birnlex_1581 xref: ZFA:0001282 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002196\nlabel: adenohypophysis" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002196 [Term] id: EFO:0000231 name: adenoid cystic carcinoma def: "A malignant tumor arising from the epithelial cells. Microscopically, the neoplastic epithelial cells form cylindrical spatial configurations (cribriform or classic type of adenoid cystic carcinoma), cordlike structures (tubular type of adenoid cystic carcinoma), or solid structures (basaloid variant of adenoid cystic carcinoma). Adenoid cystic carcinomas mostly occur in the salivary glands. Other primary sites of involvement include the lacrimal gland, the larynx, and the lungs. Adenoid cystic carcinomas spread along nerve sheaths, resulting in severe pain, and they tend to recur. Lymph node metastases are unusual; hematogenous tumor spread is characteristic." [NCIT:C2970] subset: gard_rare synonym: "adenocystic carcinoma" EXACT [GARD:0005743, NCIT:C2970] synonym: "adenoid cystic cancer" EXACT [NCIT:C2970] synonym: "adenoid cystic carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "adenoid cystic carcinoma" EXACT [NCIT:C2970] synonym: "adenoid cystic carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "cribriform carcinoma" RELATED [GARD:0005743] synonym: "cylindroid adenocarcinoma" EXACT [NCIT:C2970] synonym: "cylindroma" RELATED [GARD:0005743] xref: DOID:0080202 {source="MONDO:equivalentTo"} xref: EFO:0000231 {source="MONDO:equivalentTo"} xref: GARD:0005743 {source="MONDO:equivalentTo"} xref: ICDO:8200/3 {source="NCIT:C2970"} xref: MESH:D003528 {source="EFO:0000231", source="DOID:0080202", source="MONDO:equivalentTo"} xref: MONDO:0004971 xref: NCIT:C2970 {source="EFO:0000231", source="DOID:0080202", source="MONDO:equivalentTo"} xref: ONCOTREE:ACYC {source="MONDO:equivalentTo"} xref: UMLS:C0010606 {source="MONDO:equivalentTo", source="NCIT:C2970"} is_a: EFO:0000228 {source="DOID:0080202", source="MESH:D003528"} ! adenocarcinoma property_value: closeMatch http://identifiers.org/snomedct/11671000 property_value: exactMatch DOID:0080202 property_value: exactMatch DOID:0080202 property_value: exactMatch http://identifiers.org/mesh/D003528 property_value: exactMatch http://identifiers.org/mesh/D003528 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010606 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010606 property_value: exactMatch NCIT:C2970 property_value: exactMatch NCIT:C2970 [Term] id: EFO:0000232 name: adenoma def: "A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." [NCIT:C2855] comment: Editor note: check status re benign synonym: "acinar cell adenoma" EXACT [DOID:657] synonym: "acinar cell adenoma" NARROW [DOID:657] synonym: "acinar cell adenoma (morphologic abnormality)" EXACT [DOID:657] synonym: "acinar cell adenoma (morphologic abnormality)" NARROW [DOID:657] synonym: "acinic cell adenoma" EXACT [DOID:657] synonym: "adenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "adenoma" EXACT [NCIT:C2855] synonym: "adenoma" EXACT [] {comment="preferred label from MONDO"} synonym: "adenoma, benign" NARROW [NCIT:C2855] synonym: "adenomas" EXACT [DOID:657] xref: DOID:657 {source="EFO:0000232", source="MONDO:equivalentTo"} xref: EFO:0000232 {source="MONDO:equivalentTo"} xref: ICDO:8140/0 {source="NCIT:C2855"} xref: MESH:D000236 {source="DOID:657", source="EFO:0000232", source="MONDO:equivalentTo"} xref: MONDO:0004972 xref: NCIT:C2855 {source="DOID:657", source="EFO:0000232", source="MONDO:equivalentTo"} xref: SCTID:443416007 {source="DOID:657", source="MONDO:equivalentTo"} xref: UMLS:C0001430 {source="DOID:657", source="MONDO:equivalentTo", source="NCIT:C2855"} is_a: EFO:0006858 {source="EFO:0000232", source="MESH:D000236", source="NCIT:C2855"} ! epithelial neoplasm property_value: closeMatch http://identifiers.org/snomedct/189578007 property_value: closeMatch http://identifiers.org/snomedct/189579004 property_value: closeMatch http://identifiers.org/snomedct/32048006 property_value: closeMatch http://identifiers.org/snomedct/79041005 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0334389 property_value: exactMatch DOID:657 property_value: exactMatch DOID:657 property_value: exactMatch http://identifiers.org/mesh/D000236 property_value: exactMatch http://identifiers.org/mesh/D000236 property_value: exactMatch http://identifiers.org/snomedct/443416007 property_value: exactMatch http://identifiers.org/snomedct/443416007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001430 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001430 property_value: exactMatch NCIT:C2855 property_value: exactMatch NCIT:C2855 [Term] id: EFO:0000233 name: adenosquamous lung carcinoma def: "An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells." [NCIT:C9133] synonym: "adenosquamous cell lung carcinoma" EXACT [NCIT:C9133] synonym: "adenosquamous lung cancer" EXACT [NCIT:C9133] synonym: "adenosquamous lung carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "adenosquamous lung carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "adenosquamous lung carcinoma" EXACT [DOID:4829, NCIT:C9133] synonym: "lung adenosquamous carcinoma" EXACT [MONDO:patterns/location] xref: DOID:4829 {source="EFO:0000233", source="MONDO:equivalentTo"} xref: EFO:0000233 {source="MONDO:equivalentTo"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="i2s"} xref: MONDO:0004973 xref: NCIT:C9133 {source="EFO:0000233", source="MONDO:equivalentTo", source="exact-label-match", source="DOID:4829"} xref: NCIT:C9133 {source="EFO:0000233", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4829"} xref: ONCOTREE:LUAS {source="MONDO:equivalentTo"} xref: SCTID:707405009 {source="MONDO:equivalentTo"} xref: UMLS:C0279557 {source="NCIT:C9133", source="MONDO:equivalentTo", source="DOID:4829"} is_a: EFO:1000073 {source="MONDO:Redundant", source="NCIT:C9133"} ! Adenosquamous Carcinoma is_a: MONDO:0056806 ! non-small cell squamous lung carcinoma relationship: EFO:0000784 UBERON:0002048 ! has_disease_location lung property_value: exactMatch DOID:4829 property_value: exactMatch DOID:4829 property_value: exactMatch http://identifiers.org/snomedct/707405009 property_value: exactMatch http://identifiers.org/snomedct/707405009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279557 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279557 property_value: exactMatch NCIT:C9133 property_value: exactMatch NCIT:C9133 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: http://purl.org/dc/terms/conformsTo adenosquamous:carcinoma.yaml [Term] id: EFO:0000235 name: obsolete_adipose tissue MMHCC xref: NCIt:C22703 property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "No longer required in EFO (no supporting use case)" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000236 name: obsolete_adipose tissue brown MMHCC xref: NCIt:C22704 property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use brown fat EFO_0000812 instead" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000812 [Term] id: EFO:0000237 name: obsolete_adrenal cortex def: "The outer layer of the adrenal gland. It secretes mineralocorticoids, androgens, and glucocorticoids. (MeSH)" [] def: "The outer portion of the adrenal glands that produces several steroid hormones, including cortisol and aldosterone." [] synonym: "cortex glandulae suprarenalis" EXACT [] synonym: "Cortex of adrenal gland" EXACT [] synonym: "cortex of suprarenal gland" EXACT [] synonym: "Cortical" EXACT [] synonym: "suprarenal cortex" EXACT [] xref: BTO:0000045 xref: EMAPA:18427 xref: EV:0100136 xref: MA:0000118 xref: MAT:0000494 xref: NCIt:C12396 xref: XAO:0000165 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001235\nLabel: adrenal cortex" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001235 [Term] id: EFO:0000239 name: adrenal gland pheochromocytoma def: "A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines. It arises from the chromaffin cells of the adrenal medulla. Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor. Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen. Other growth patterns including trabecular pattern may also be present." [NCIT:C3326] synonym: "adrenal gland chromaffin paraganglioma" EXACT [NCIT:C3326] synonym: "adrenal gland Chromaffinoma" EXACT [NCIT:C3326] synonym: "adrenal gland paraganglioma" EXACT [NCIT:C3326] synonym: "adrenal gland pheochromocytoma" EXACT [] {comment="preferred label from MONDO"} synonym: "adrenal gland pheochromocytoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "adrenal gland pheochromocytoma" EXACT [NCIT:C3326] synonym: "adrenal medullary paraganglioma" EXACT [NCIT:C3326] synonym: "adrenal medullary pheochromocytoma" EXACT [NCIT:C3326] synonym: "adrenal pheochromocytoma" EXACT [NCIT:C3326] synonym: "chromaffin paraganglioma of the adrenal gland" EXACT [NCIT:C3326] synonym: "Intraadrenal paraganglioma" EXACT [NCIT:C3326] synonym: "PCC" EXACT ABBREVIATION [NCIT:C3326] synonym: "pheochromocytoma" BROAD [NCIT:C3326] synonym: "pheochromocytoma" EXACT [NCIT:C3326] synonym: "pheochromocytoma (adrenal)" EXACT [NCIT:C3326] xref: DOID:0050892 {source="MONDO:equivalentTo", source="EFO:0000239"} xref: EFO:0000239 {source="MONDO:equivalentTo"} xref: ICDO:8700/0 {source="NCIT:C3326"} xref: MONDO:0004974 xref: NCIT:C3326 {source="MONDO:equivalentTo", source="EFO:0000239"} xref: OMIM:171300 is_a: MONDO:0021072 {source="NCIT:C3326"} ! sympathetic paraganglioma is_a: MONDO:0021237 {source="MONDO:Redundant", source="NCIT:C3326"} ! adrenal medulla neoplasm is_a: Orphanet:271847 ! Genetic endocrine tumor relationship: EFO:0000784 CL:0000336 ! has_disease_location adrenal medulla chromaffin cell property_value: closeMatch http://identifiers.org/mesh/D010673 property_value: closeMatch http://identifiers.org/snomedct/302835009 property_value: closeMatch http://identifiers.org/snomedct/85583005 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0031511 property_value: exactMatch DOID:0050892 property_value: exactMatch DOID:0050892 property_value: exactMatch NCIT:C3326 property_value: exactMatch NCIT:C3326 [Term] id: EFO:0000240 name: obsolete_adult eye primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_10005249 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_10005249 [Term] id: EFO:0000241 name: obsolete_adult foregut precursor property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005611 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005611 [Term] id: EFO:0000242 name: obsolete_adult hindgut precursor property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005646 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005646 [Term] id: EFO:0000243 name: obsolete_Malpighian tubule def: "Any of a group of long blind vessels opening into the posterior part of the alimentary canal in most insects and some other arthropods and functioning primarily as excretory organs." [] def: "Epithelial tube with excretory and osmoregulatory roles connected, via a ureter, to the alimentary canal at the junction of the hindgut and midgut. There are two pairs of Malpighian tubules, the right pair lie at the anterior end of the abdomen, and the left pair at the posterior. Each tubule unites with its partner to form a common ureter which enters the alimentary canal at the junction of the hindgut and midgut (Wessing and Eichelberg, 1978)." [] def: "The most important structure of the insect's excretory organ, which may comprise cystiform or labyrinthine highly versatile tubules having their outlet into the initial section of the rectum." [] def: "There are five Malpighian tubules that are attached to the alimentary canal posteriorly." [] synonym: "adult Malpighian tubule" EXACT [] synonym: "adult Malpighian tubules" EXACT [] synonym: "malphigian tube" EXACT [] synonym: "Malpighian tubules" EXACT [] synonym: "tuba Malpighii" EXACT [] xref: BTO:0000810 xref: FBbt:00005725 xref: FBbt:00005786 xref: MAT:0000123 xref: TADS:0000163 xref: TGMA:0001038 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001054\nlabel: malpighian tubule" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001054 [Term] id: EFO:0000244 name: adult midgut precursor synonym: "AMP" EXACT [] synonym: "spindle cells" EXACT [] xref: FBbt:00000449 is_a: EFO:0000795 ! animal developmental tissue property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000245 name: obsolete_adult muscle precursor primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005516 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005516 [Term] id: EFO:0000246 name: age def: "A temporal measurement of the time period elapsed since an identifiable point in the life cycle of an organism. If a developmental stage is specified, the identifiable point would be the beginning of that stage. Otherwise the identifiable point must be specified such as planting (e.g. 3 days post planting)." [] xref: MO:467 xref: NCIt:C25150 xref: SNOMEDCT:397669002 is_a: EFO:0000719 ! temporal measurement property_value: IAO:0000112 "3 days post planting" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000247 name: obsolete_Aicardi syndrome def: "A syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye." [] xref: DOID:8461 xref: NCIt:C35256 xref: OMIM:304050 xref: SNOMEDCT:80651009 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_50' instead.\nNew Label : Aicardi syndrome" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_50 [Term] id: EFO:0000248 name: alveolar rhabdomyosarcoma def: "A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities." [NCIT:P378] subset: ordo_clinical_subtype {source="Orphanet:99756"} synonym: "alveolar childhood rhabdomyosarcoma" EXACT [DOID:4051] synonym: "alveolar rhabdomyosarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "alveolar rhabdomyosarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "alveolar rhabdomyosarcoma" EXACT [DOID:4051, MONDO:ambiguous, NCIT:C3749] synonym: "alveolar rhabdomyosarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "alveolar rhabdomyosarcoma (morphologic abnormality)" EXACT [DOID:4051] synonym: "arms" EXACT [NCIT:C3749] synonym: "monomorphous round cell rhabdomyosarcoma" EXACT [NCIT:C3749] synonym: "paediatric alveolar rhabdomyosarcoma" EXACT OMO:0003005 [] synonym: "pediatric alveolar rhabdomyosarcoma" EXACT [DOID:4051, NCIT:C7958] synonym: "rhabdomyosarcoma 2" RELATED [MONDO:Lexical, OMIM:268220] synonym: "rhabdomyosarcoma 2, alveolar, somatic mutation" EXACT [OMIM:268220, OMIM:genemap2] synonym: "rhabdomyosarcoma alveolar" RELATED [GARD:0004701] synonym: "rhabdomyosarcoma type 2" EXACT [MONDORULE:1, OMIM:268220] synonym: "rhabdomyosarcoma, alveolar" RELATED [OMIM:268220] synonym: "rhabdomyosarcoma, alveolar, somatic mutation" EXACT [OMIM:268220, OMIM:genemap2] synonym: "RMS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:268220] xref: DOID:4051 {source="MONDO:equivalentTo", source="EFO:0000248"} xref: EFO:0000248 {source="MONDO:equivalentTo"} xref: GARD:0004701 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: HP:0006779 {source="MONDO:otherHierarchy"} xref: ICD10:C49.9 {source="Orphanet:99756", source="ORDO:99756/ntbt"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:8920/3 {source="NCIT:C3749"} xref: MedDRA:10065867 {source="ORDO:99756/e", source="Orphanet:99756"} xref: MedDRA:10065867 {source="Orphanet:99756", source="Orphanet:99756/e"} xref: MESH:D018232 {source="Orphanet:99756", source="MONDO:equivalentTo", source="EFO:0000248", source="DOID:4051", source="Orphanet:99756/e"} xref: MESH:D018232 {source="ORDO:99756/e", source="Orphanet:99756", source="MONDO:equivalentTo", source="EFO:0000248", source="DOID:4051"} xref: MONDO:0009994 xref: NCIT:C3749 {source="MONDO:equivalentTo", source="EFO:0000248", source="DOID:4051"} xref: OMIM:268220 {source="Orphanet:99756", source="MONDO:equivalentTo", source="EFO:0000248", source="DOID:4051", source="Orphanet:99756/e"} xref: OMIM:268220 {source="ORDO:99756/e", source="Orphanet:99756", source="MONDO:equivalentTo", source="EFO:0000248", source="DOID:4051"} xref: ONCOTREE:ARMS {source="MONDO:equivalentTo"} xref: Orphanet:99756 {source="OMIM:268220", source="MONDO:equivalentTo"} xref: SCTID:404053004 {source="MONDO:equivalentTo", source="EFO:0000248", source="DOID:4051"} xref: UMLS:C0206655 {source="NCIT:C3749", source="OMIM:268220", source="Orphanet:99756", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:4051", source="Orphanet:99756/e"} xref: UMLS:C0206655 {source="NCIT:C3749", source="ORDO:99756/e", source="OMIM:268220", source="NCBI:mim2gene_medline", source="Orphanet:99756", source="MONDO:equivalentTo", source="DOID:4051"} is_a: EFO:0002918 {source="DC-OMIM:268220", source="DOID:4051", source="EFO:0000248", source="MESH:D018232", source="NCIT:C3749", source="ONCOTREE:ARMS", source="Orphanet:99756"} ! rhabdomyosarcoma property_value: closeMatch http://identifiers.org/meddra/10065867 property_value: closeMatch http://identifiers.org/snomedct/63449009 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0279613 property_value: closeMatch NCIT:C7958 property_value: exactMatch DOID:4051 property_value: exactMatch DOID:4051 property_value: exactMatch http://identifiers.org/meddra/10065867 property_value: exactMatch http://identifiers.org/mesh/D018232 property_value: exactMatch http://identifiers.org/mesh/D018232 property_value: exactMatch http://identifiers.org/omim/268220 property_value: exactMatch http://identifiers.org/snomedct/404053004 property_value: exactMatch http://identifiers.org/snomedct/404053004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206655 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206655 property_value: exactMatch https://omim.org/entry/268220 property_value: exactMatch NCIT:C3749 property_value: exactMatch NCIT:C3749 property_value: exactMatch Orphanet:99756 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000589 "alveolar rhabdomyosarcoma (disease)" xsd:string [Term] id: EFO:0000249 name: obsolete_Alzheimer's disease def: "A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57)" [] def: "A dementia that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting in late middle age and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. It is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability." [] def: "A dementia which is an incurable disease of unknown cause, starting in late middle age or in old age, that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood, that leads in advanced cases to a profound decline in cognitive and physical functioning, and that is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid." [] def: "A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language." [] synonym: "[X]Dementia in Alzheimer's disease" EXACT [] synonym: "[X]Dementia in Alzheimer's disease (disorder)" EXACT [] synonym: "AD" EXACT [] synonym: "AD - Alzheimer's disease" EXACT [] synonym: "Alzheimer Dementia" EXACT [] synonym: "Alzheimer Dementia, Presenile" EXACT [] synonym: "ALZHEIMER DIS" EXACT [] synonym: "Alzheimer Disease" EXACT [] synonym: "Alzheimer Type Dementia" EXACT [] synonym: "Alzheimer's" EXACT [] synonym: "Alzheimer's Dementia" EXACT [] synonym: "Alzheimer's disease (disorder)" EXACT [] synonym: "Alzheimer's disease, NOS" EXACT [] synonym: "Alzheimers" EXACT [] synonym: "Alzheimers Dementia" EXACT [] synonym: "ALZHEIMERS DIS" EXACT [] synonym: "Alzheimers disease" EXACT [] synonym: "DAT - Dementia Alzheimer's type" EXACT [] synonym: "Dementia in Alzheimer's disease" EXACT [] synonym: "Dementia in Alzheimer's disease (disorder)" EXACT [] synonym: "Dementia in Alzheimer's disease, unspecified (disorder)" EXACT [] synonym: "Dementia of the Alzheimer's type" EXACT [] synonym: "Dementia, Alzheimer Type" EXACT [] synonym: "Dementia, Presenile" EXACT [] synonym: "Dementia, Presenile Alzheimer" EXACT [] synonym: "Disease, Alzheimer" EXACT [] synonym: "Disease, Alzheimer's" EXACT [] synonym: "Presenile Alzheimer Dementia" EXACT [] synonym: "sporadic Alzheimer's disease" EXACT [] xref: DOID:10652 xref: ICD10:G30 xref: ICD9:290.1 xref: ICD9:331.0 xref: MedDRA:10001896 xref: MeSH:D000544 xref: NCIt:C2866 xref: NCIt:C34524 xref: NCIt:C38778 xref: NIFSTD:birnlex_2092 xref: OMIM:104300 xref: OMIM:502500 xref: OMIM:605526 xref: OMIM:608907 xref: OMIM:615590 xref: OMIM:615711 xref: SNOMEDCT:12348006 xref: SNOMEDCT:15662003 xref: SNOMEDCT:26929004 property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/25687773 xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.38.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replaced with Mondo term\nsee https://github.com/ebispot/efo/issues/1381" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/MONDO_0004975 [Term] id: EFO:0000250 name: obsolete_amnioserosa def: "A dorsal membrane of the embryo." [] xref: FBbt:00000095 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0010302\nlabel: amnioserosa" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0010302 [Term] id: EFO:0000251 name: obsolete_amnioserosa anlage in statu nascendi property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005422 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005422 [Term] id: EFO:0000252 name: obsolete_amygdala def: "An almond-shaped group of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe. The amygdala is part of the limbic system. (MeSH)" [] def: "Subcortical brain region lying anterior to the hippocampal formation in the temporal lobe and anterior to the temporal horn of the lateral ventricle in some species. It is usually subdivided into several groups. Functionally, it is not considered a unitary structure (MM)." [] def: "Subdivision of basal ganglion of telencephalon which is an almond-shaped gray mass in the dorsomedial part of the temporal lobe." [] def: "The one of the four basal ganglia in each cerebral hemisphere that is part of the limbic system and consists of an almond-shaped mass of gray matter in the anterior extremity of the temporal lobe." [] synonym: "amygdala central nucleus" EXACT [] synonym: "Amygdaloid Body" EXACT [] synonym: "amygdaloid complex" EXACT [] synonym: "amygdaloid nuclear complex" EXACT [] synonym: "amygdaloid nuclear group" EXACT [] synonym: "Amygdaloid nuclear groups" EXACT [] synonym: "Amygdaloid Nucleus" EXACT [] synonym: "archistriatum" EXACT [] synonym: "corpus amygdaloideum" EXACT [] synonym: "nucleus amygdalae" EXACT [] xref: BTO:0001042 xref: EV:0100189 xref: FMA:61841 xref: MA:0000887 xref: MAT:0000289 xref: MeSH:D000679 xref: NCIt:C12440 xref: NIFSTD:birnlex_1241 xref: SAEL:4 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001876\nlabel: amygdala" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001876 [Term] id: EFO:0000253 name: obsolete_amyotrophic lateral sclerosis def: "A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts (MeSH)." [] def: "A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94)" [] def: "An autosomal dominant inherited form of amyloidosis." [] synonym: "ALS" EXACT [] synonym: "ALS (Amyotrophic Lateral Sclerosis)" EXACT [] synonym: "ALS - Amyotrophic lateral sclerosis" EXACT [] synonym: "Amyotrophic lateral sclerosis (disorder)" EXACT [] synonym: "Amyotrophic Lateral Sclerosis With Dementia" EXACT [] synonym: "Amyotrophic Lateral Sclerosis, Guam Form" EXACT [] synonym: "Amyotrophic lateral sclerosis, Parkinsonism/Dementia complex of Guam" EXACT [] synonym: "Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1" EXACT [] synonym: "AMYOTROPHIC SCLEROSIS" EXACT [] synonym: "Bulbar motor neuron disease" EXACT [] synonym: "Charcot disease" EXACT [] synonym: "Dementia With Amyotrophic Lateral Sclerosis" EXACT [] synonym: "Disease, Lou-Gehrigs" EXACT [] synonym: "Gehrig Disease" EXACT [] synonym: "Gehrig's Disease" EXACT [] synonym: "GEHRIGS DIS" EXACT [] synonym: "Gehrigs Disease" EXACT [] synonym: "Guam Form of Amyotrophic Lateral Sclerosis" EXACT [] synonym: "Lateral Scleroses, Amyotrophic" EXACT [] synonym: "LOU GEHRIG DIS" EXACT [] synonym: "Lou Gehrig Disease" EXACT [] synonym: "Lou Gehrig's Disease" EXACT [] synonym: "LOU GEHRIGS DIS" EXACT [] synonym: "Lou Gehrigs Disease" EXACT [] synonym: "Lou-Gehrigs Disease" EXACT [] synonym: "MOTOR NEURON DIS AMYOTROPHIC LATERAL SCLEROSIS" EXACT [] synonym: "Motor Neuron Disease, Amyotrophic Lateral Sclerosis" EXACT [] synonym: "Motor neuron disease, bulbar" EXACT [] synonym: "Sclerosis, Amyotrophic Lateral" EXACT [] xref: DOID:332 xref: ICD9:335.20 xref: MedDRA:10002026 xref: MedDRA:10052889 xref: MeSH:D000690 xref: NCIt:C34373 xref: NIFSTD:birnlex_12566 xref: OMIM:105400 xref: OMIM:105500 xref: OMIM:616208 xref: OMIM:617839 xref: OMIM:617892 xref: OMIM:617921 xref: ORDO:Orphanet_803 xref: SNOMEDCT:86044005 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.38.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replaced with Mondo term\nsee https://github.com/ebispot/efo/issues/1381" xsd:string property_value: IAO:0000117 "Gautier Koscielny" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/MONDO_0004976 [Term] id: EFO:0000254 name: anal pad specific anlage xref: FBbt:00005482 is_a: UBERON:0001353 ! anal region property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000255 name: angioimmunoblastic T-cell lymphoma def: "A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes and extranodal sites. The clinical course is typically aggressive." [NCIT:C7528, PMID:22700722] subset: gard_rare {source="GARD:0011973"} subset: ordo_disease {source="Orphanet:86886"} synonym: "AILD" EXACT ABBREVIATION [NCIT:C7528] synonym: "AILT" EXACT ABBREVIATION [Orphanet:86886] synonym: "AITL" RELATED ABBREVIATION [GARD:0011973, ONCOTREE:AITL] synonym: "angioimmunoblastic lymphadenopathy" EXACT [NCIT:C7528] synonym: "angioimmunoblastic lymphadenopathy type T-cell lymphoma" EXACT [NCIT:C7528] synonym: "angioimmunoblastic lymphadenopathy with Dysproteinemia" EXACT [NCIT:C7528] synonym: "angioimmunoblastic T-cell lymphoma" EXACT [] {comment="preferred label from MONDO"} synonym: "angioimmunoblastic T-cell lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "angioimmunoblastic T-cell lymphoma" EXACT [MONDO:0019477] synonym: "immunoblastic lymphadenopathy" EXACT [Orphanet:86886] synonym: "lymphogranulomatosis X" EXACT [Orphanet:86886] synonym: "T-cell lymphoma, AILD type" EXACT [Orphanet:86886] xref: DOID:0111147 {source="MONDO:equivalentTo"} xref: EFO:0000255 {source="MONDO:equivalentTo"} xref: GARD:0011973 {source="MONDO:equivalentTo"} xref: GARD:11973 {source="DOID:0111147"} xref: ICD10:C86.5 {source="ORDO:86886/e", source="Orphanet:86886", source="MONDO:equivalentTo", source="DOID:0111147"} xref: ICD10CM:C86.5 {source="Orphanet:86886", source="MONDO:equivalentTo", source="Orphanet:86886/e", source="DOID:0111147"} xref: ICD9:202.70 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:202.70 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9705/3 {source="NCIT:C7528"} xref: ICDO:9767/1 {source="NCIT:C7528"} xref: MedDRA:10002449 {source="DOID:0111147"} xref: MedDRA:10002449 {source="ORDO:86886/e", source="Orphanet:86886"} xref: MedDRA:10002449 {source="Orphanet:86886", source="Orphanet:86886/e", source="DOID:0111147"} xref: MESH:D007119 {source="MONDO:equivalentTo"} xref: MONDO:0004977 xref: NCIT:C7528 {source="EFO:0000255", source="MONDO:equivalentTo", source="exact-label-match", source="DOID:0111147"} xref: NCIT:C7528 {source="EFO:0000255", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:0111147"} xref: ONCOTREE:AITL {source="MONDO:equivalentTo"} xref: Orphanet:86886 {source="MONDO:equivalentTo", source="DOID:0111147"} xref: SCTID:413537009 {source="EFO:0000255", source="MONDO:equivalentTo", source="DOID:0111147"} xref: UMLS:C0020981 {source="Orphanet:86886", source="MONDO:equivalentTo", source="NCIT:C7528", source="DOID:0111147"} is_a: MONDO:0000430 {source="DOID:0111147", source="DOID:0111147/inferred", source="MONDO:Redundant", source="NCIT:C7528/inferred"} ! mature T-cell and NK-cell non-Hodgkin lymphoma property_value: closeMatch http://identifiers.org/meddra/10002449 property_value: closeMatch http://identifiers.org/snomedct/127216000 property_value: closeMatch http://identifiers.org/snomedct/52097008 property_value: closeMatch http://identifiers.org/snomedct/835009 property_value: exactMatch DOID:0111147 property_value: exactMatch DOID:0111147 property_value: exactMatch http://identifiers.org/meddra/10002449 property_value: exactMatch http://identifiers.org/mesh/D007119 property_value: exactMatch http://identifiers.org/mesh/D007119 property_value: exactMatch http://identifiers.org/snomedct/413537009 property_value: exactMatch http://identifiers.org/snomedct/413537009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020981 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020981 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/C86.5 property_value: exactMatch NCIT:C7528 property_value: exactMatch NCIT:C7528 property_value: exactMatch Orphanet:86886 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11973/angioimmunoblastic-t-cell-lymphoma xsd:anyURI {source="GARD:0011973"} [Term] id: EFO:0000256 name: obsolete_anlage in statu nascendi property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_6005413 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_6005413 [Term] id: EFO:0000257 name: obsolete_antennal primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005510 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005510 [Term] id: EFO:0000258 name: antennal primordium2 synonym: "wing disc-derived cell-line" EXACT [] xref: FBbt:00005537 is_a: EFO:0000795 ! animal developmental tissue property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000259 name: obsolete_anterior endoderm anlage property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00000210 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00000210 [Term] id: EFO:0000260 name: anterior endoderm anlage in statu nascendi synonym: "A0antEndo" EXACT [] xref: FBbt:00005418 is_a: EFO:0000795 ! animal developmental tissue property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000261 name: anterior endoderm primordium synonym: "antEndoP2" EXACT [] xref: FBbt:00005524 is_a: EFO:0000795 ! animal developmental tissue property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000262 name: obsolete_anterior midgut primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00000444 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00000444 [Term] id: EFO:0000263 name: anterior spiracle specific anlage xref: FBbt:00005487 is_a: EFO:0000795 ! animal developmental tissue property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000264 name: antibody def: "An antibody function (or antigen binding function) is an infection-fighting protein molecule in blood or secretory fluids that tags, neutralizes, and helps destroy pathogenic microorganisms such as bacteria, viruses and toxins." [] synonym: "antibodies" EXACT [] xref: MeSH:D000906 xref: MO:833 xref: NCIt:C16295 xref: NIFSTD:birnlex_2110 xref: SNOMEDCT:68498002 is_a: GO:0003674 ! molecular_function property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000265 name: obsolete_aorta def: "Principal unpaired, median artery of the trunk, leading from the paired roots (radices) of the dorsal aorta to the caudal artery." [] def: "Principal unpaired, median artery of the trunk, leading from the paired roots (radices) of the dorsal aorta to the caudal artery. Kimmel et al, 1995." [] def: "The great arterial trunk that carries blood from the heart to be distributed by branch arteries through the body." [] def: "The main trunk of the systemic arteries." [] def: "The major arterial trunk that carries oxygenated blood from the left ventricle into the ascending aorta behind the heart, the aortic arch, through the thorax as the descending aorta and through the abdomen as the abdominal aorta; it bifurcates into the left and right common iliac arteries." [] synonym: "adult aorta" EXACT [] synonym: "Aorta, Ascending" EXACT [] synonym: "Aortas" EXACT [] synonym: "Aortas, Ascending" EXACT [] synonym: "Aortic" EXACT [] synonym: "Ascending Aorta" EXACT [] synonym: "Ascending Aortas" EXACT [] synonym: "DA" EXACT [] synonym: "dorsal aorta" EXACT [] synonym: "dorsal aortic root" EXACT [] synonym: "trunk of aortic tree" EXACT [] synonym: "trunk of systemic arterial tree" EXACT [] xref: BTO:0000135 xref: EV:0100027 xref: FBbt:00003153 xref: FMA:3734 xref: MA:0000476 xref: MAT:0000035 xref: MeSH:D001011 xref: NCIt:C12669 xref: SAEL:6 xref: TADS:0000154 xref: TAO:0000014 xref: XAO:0003010 xref: ZFA:0000014 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000947\nlabel: aorta" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000947 [Term] id: EFO:0000266 name: aortic stenosis def: "A pathological constriction that can occur above (supravalvular stenosis), below (subvalvular stenosis), or at the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA." [] def: "Aortic valve stenosis is a aortic valve disease caused by the incomplete opening of the aortic valve. The aortic valve controls the direction of blood flow from the left ventricle to the aorta. When in good working order, the aortic valve does not impede the flow of blood between these two spaces. Under some circumstances, the aortic valve becomes narrower than normal, impeding the flow of blood. This is known as aortic valve stenosis, or aortic stenosis, often abbreviated as AS." [] def: "Aortic valve stenosis is a aortic valve disease caused by the incomplete opening of the aortic valve. The aortic valve controls the direction of blood flow from the left ventricle to the aorta. When in good working order, the aortic valve does not impede the flow of blood between these two spaces. Under some circumstances, the aortic valve becomes narrower than normal, impeding the flow of blood. This is known as aortic valve stenosis, or aortic stenosis, often abbreviated AS." [] synonym: "Aortic Valve Stenoses" EXACT [] synonym: "Aortic Valve Stenosis" EXACT [] synonym: "Aortic valve stenosis (disorder)" EXACT [] synonym: "Aortic valve stenosis, NOS" EXACT [] synonym: "AS" EXACT [] synonym: "AS - Aortic stenosis" EXACT [] synonym: "Stenosed aortic valve" EXACT [] synonym: "Stenoses, Aortic" EXACT [] synonym: "Stenoses, Aortic Valve" EXACT [] synonym: "Stenosis, Aortic" EXACT [] synonym: "Stenosis, Aortic Valve" EXACT [] synonym: "Valve Stenoses, Aortic" EXACT [] synonym: "Valve Stenosis, Aortic" EXACT [] xref: DOID:1712 xref: MedDRA:10002906 xref: MeSH:D001024 xref: NCIt:C50462 xref: NCIt:C64938 xref: OMIM:109730 xref: SNOMEDCT:420503003 xref: SNOMEDCT:60573004 is_a: EFO:0009531 ! aortic valve disease relationship: EFO:0000784 UBERON:0000947 ! has_disease_location aorta property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000267 name: obsolete_apical meristem def: "A group of cells at the tip of the stem and root that give rise by cell division to the primary tissues and are ultimately responsible for the structural organization of the entire primary plant body." [] synonym: "GRO:0000231" EXACT [] xref: BTO:0000034 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with PO_0020144" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0020144 [Term] id: EFO:0000268 name: obsolete_apoptotic amnioserosa property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005556 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005556 [Term] id: EFO:0000269 name: array design def: "An instrument design which describes the design of the array." [] is_a: EFO:0001451 ! instrument design property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000270 name: obsolete_asthma def: "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, excercise, stress, reflux disease, medications, foods and emotional anxiety." [] def: "A chronic respiratory disease manifested as difficulty breathing due to the narrowing of bronchial passageways." [] def: "A form of bronchial disorder with three distinct components: airway hyper-responsiveness (RESPIRATORY HYPERSENSITIVITY), airway INFLAMMATION, and intermittent AIRWAY OBSTRUCTION. It is characterized by spasmodic contraction of airway smooth muscle, WHEEZING, and dyspnea (DYSPNEA, PAROXYSMAL)." [] def: "Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory." [] synonym: "Airway hyperreactivity" EXACT [] synonym: "Asthma (disorder)" EXACT [] synonym: "Asthma NOS" EXACT [] synonym: "Asthma NOS (disorder)" EXACT [] synonym: "ASTHMA NOS W (AC) EXAC" EXACT [] synonym: "Asthma unspecified" EXACT [] synonym: "Asthma unspecified (disorder)" EXACT [] synonym: "Asthma, Bronchial" EXACT [] synonym: "Asthma, unspecified" EXACT [] synonym: "Asthma, unspecified type, with acute exacerbation" EXACT [] synonym: "Asthma, unspecified type, without mention of status asthmaticus" EXACT [] synonym: "Asthmas" EXACT [] synonym: "Asthmatic" EXACT [] synonym: "BA" EXACT [] synonym: "BHR - Bronchial hyperreactivity" EXACT [] synonym: "Bronchial asthma" EXACT [] synonym: "Bronchial Hyperreactivities" EXACT [] synonym: "Bronchial hyperreactivity" EXACT [] synonym: "Bronchial hyperresponsiveness" EXACT [] synonym: "Bronchial hypersensitivity" EXACT [] synonym: "chronic obstructive asthma" EXACT [] synonym: "chronic obstructive asthma with acute exacerbation" EXACT [] synonym: "chronic obstructive asthma with status asthmaticus" EXACT [] synonym: "DUST PNEUMONOPATHY NEC" EXACT [] synonym: "Exercise induced asthma" EXACT [] synonym: "Exercise-induced asthma" EXACT [] synonym: "Exercise-induced asthma (disorder)" EXACT [] synonym: "Hyperreactive airway disease" EXACT [] synonym: "Hyperreactive airways disease" EXACT [] synonym: "Hyperreactivities, Bronchial" EXACT [] synonym: "Hyperreactivity, Bronchial" EXACT [] synonym: "Other forms of asthma" EXACT [] synonym: "Pneumonopathy due to inhalation of other dust" EXACT [] synonym: "Pneumopathy due to inhalation of other dust" EXACT [] synonym: "Pneumopathy due to inhalation of other dust (disorder)" EXACT [] synonym: "Pneumopathy due to inhalation of other dust NOS" EXACT [] synonym: "Pneumopathy due to inhalation of other dust NOS (disorder)" EXACT [] xref: DOID:2841 xref: ICD10:J45 xref: ICD9:493 xref: MedDRA:10003553 xref: MedDRA:10003561 xref: MedDRA:10003562 xref: MedDRA:10003563 xref: MeSH:D001249 xref: NCIt:C28397 xref: OMIM:600807 xref: OMIM:607277 xref: OMIM:608584 xref: OMIM:611064 xref: OMIM:611960 xref: SNOMEDCT:195967001 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.38.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replaced with Mondo term\nsee https://github.com/ebispot/efo/issues/1381" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/MONDO_0004979 [Term] id: EFO:0000271 name: obsolete_astrocytic tumor def: "A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma." [] def: "Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)" [] xref: DOID:3069 xref: MeSH:D001254 xref: NCIt:C6958 xref: SNOMEDCT:254938000 xref: SNOMEDCT:38713004 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.5" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate with astrocytic tumor (EFO_0000272)" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000272 [Term] id: EFO:0000272 name: astrocytoma def: "A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma." [https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23, NCIT:C6958] def: "A tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, and subependymal giant cell astrocytoma." [https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23, NCIT:C60781] comment: This class denotes astrocytomas proper which excludes GBM. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23 comment: This class encompasses astrocytomas proper as well as GBM. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23 subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:94"} synonym: "astrocytic neoplasm" EXACT [NCIT:C6958] synonym: "astrocytic tumor" EXACT [DOID:3069, NCIT:C6958, Orphanet:94] synonym: "astrocytic tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "astrocytoma" EXACT AMBIGUOUS [https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23, NCIT:C60781] synonym: "astrocytoma" NARROW AMBIGUOUS [https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23] synonym: "astrocytoma (excluding glioblastoma)" EXACT [] {comment="preferred label from MONDO"} synonym: "astrocytoma of brain" EXACT [DOID:3069] synonym: "astrocytoma of cerebrum" EXACT [DOID:3069] synonym: "astrocytoma, no ICD-O subtype" EXACT [DOID:3069] synonym: "Astroglioma" EXACT [NCIT:C6958] synonym: "astroglioma" EXACT [CSP2005:2012-6768, DOID:3069] xref: DOID:3069 {source="MONDO:equivalentTo"} xref: EFO:0000272 {source="MONDO:equivalentTo"} xref: ICDO:9400/3 {source="NCIT:C60781"} xref: MedDRA:10003571 {source="Orphanet:94", source="ORDO:94/e"} xref: MESH:D001254 {source="MONDO:equivalentTo"} xref: MONDO:0019781 xref: NCIT:C60781 {source="MONDO:equivalentTo"} xref: NCIT:C6958 {source="DOID:3069", source="MONDO:equivalentTo"} xref: ONCOTREE:ASTR {source="MONDO:equivalentTo"} xref: Orphanet:94 {source="MONDO:equivalentTo"} xref: SCTID:147101000119108 {source="MONDO:equivalentTo"} xref: UMLS:C0004114 {source="DOID:3069", source="Orphanet:94/e", source="MONDO:equivalentTo", source="Orphanet:94", source="NCIT:C60781"} is_a: MONDO:0021636 {source="NCIT:C60781"} ! astrocytic tumor relationship: EFO:0000784 UBERON:0000955 ! has_disease_location brain property_value: closeMatch http://identifiers.org/snomedct/189914005 property_value: closeMatch http://identifiers.org/snomedct/38713004 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0750935 property_value: exactMatch DOID:3069 property_value: exactMatch http://identifiers.org/meddra/10003571 property_value: exactMatch http://identifiers.org/mesh/D001254 property_value: exactMatch http://identifiers.org/snomedct/147101000119108 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004114 property_value: exactMatch NCIT:C60781 property_value: exactMatch NCIT:C6958 [Term] id: EFO:0000273 name: atmosphere def: "The atmospheric conditions used to culture or grow an organism." [] xref: MeSH:D001272 xref: MO:498 xref: NCIt:C54711 xref: SNOMEDCT:304607008 is_a: EFO:0000469 ! environmental factor property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000274 name: atopic eczema def: "A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema." [MESH:D003876] synonym: "allergic" EXACT [DOID:3310] synonym: "allergic dermatitis" EXACT [DOID:3310] synonym: "allergic form of dermatitis" EXACT [MONDO:patterns/allergic_form_of_disease] synonym: "Atopic Dermatitides" EXACT [] synonym: "Atopic Dermatitis" EXACT [] synonym: "Atopic dermatitis" EXACT [DOID:3310] synonym: "atopic dermatitis and related conditions" EXACT [] synonym: "Atopic dermatitis and related conditions (disorder)" EXACT [] synonym: "atopic eczema" EXACT [] {comment="preferred label from MONDO"} synonym: "atopic eczema" EXACT [DOID:3310] synonym: "Atopic Neurodermatitides" EXACT [] synonym: "Atopic Neurodermatitis" EXACT [] synonym: "Atopic neurodermatitis" EXACT [DOID:3310] synonym: "Besnier's prurigo" EXACT [DOID:3310] synonym: "Dermatitides, Atopic" EXACT [] synonym: "Dermatitis, Atopic" EXACT [] synonym: "Disseminated Neurodermatitides" EXACT [] synonym: "Disseminated Neurodermatitis" EXACT [] synonym: "eczema" EXACT [NCIT:C3001] synonym: "Eczema, Atopic" EXACT [] synonym: "Eczema, Infantile" EXACT [] synonym: "eczematous dermatitis" EXACT [NCIT:C3001] synonym: "Infantile Eczema" EXACT [] synonym: "Neurodermatitides, Atopic" EXACT [] synonym: "Neurodermatitides, Disseminated" EXACT [] synonym: "Neurodermatitis, Atopic" EXACT [] synonym: "Neurodermatitis, Disseminated" EXACT [] synonym: "OTHER ATOPIC DERMATITIS" EXACT [] synonym: "Other atopic dermatitis and related conditions" EXACT [] xref: DOID:3310 {source="EFO:0000274", source="MONDO:equivalentTo"} xref: ICD10:L20 xref: ICD9:691 {source="EFO:0000274"} xref: ICD9:691.8 {source="EFO:0000274"} xref: MedDRA:10003641 xref: MeSH:D003876 xref: MONDO:0004980 xref: NCIT:C3001 {source="MONDO:equivalentTo"} xref: OMIM:147050 xref: OMIM:603165 xref: OMIM:605803 xref: OMIMPS:603165 {source="DOID:3310", source="MONDO:equivalentTo"} xref: SNOMEDCT:200775004 xref: SNOMEDCT:24079001 xref: SNOMEDCT:90823000 is_a: EFO:1000636 ! inflammatory skin disease is_a: MONDO:0002406 {source="DOID:3310", source="EFO:0000274", source="MONDO:Redundant", source="NCIT:C3001"} ! dermatitis is_a: MONDO:0005271 {source="EFO:0000274", source="MONDO:Redundant"} ! allergic disease is_a: MONDO:0100118 ! hereditary skin disorder property_value: exactMatch DOID:3310 property_value: exactMatch https://omim.org/phenotypicSeries/PS603165 property_value: exactMatch NCIT:C3001 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000275 name: atrial fibrillation def: "A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC)" [NCIT:P378] def: "Abnormal cardiac rhythm that is characterized by rapid, uncoordinated firing of electrical impulses in the upper chambers of the heart (HEART ATRIA). In such case, blood cannot be effectively pumped into the lower chambers of the heart (HEART VENTRICLES). It is caused by abnormal impulse generation." [] synonym: "A-fib" EXACT [DOID:0060224] synonym: "AF" EXACT ABBREVIATION [NCIT:C50466] synonym: "AF - Atrial fibrillation" EXACT [] synonym: "AFib" EXACT [NCIT:C50466] synonym: "atrial fibrillation" EXACT [MONDO:ambiguous] synonym: "atrial fibrillation" EXACT [] {comment="preferred label from MONDO"} synonym: "atrial fibrillation (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Atrial fibrillation (disorder)" EXACT [] synonym: "Atrial Fibrillations" EXACT [] synonym: "Auricular Fibrillation" EXACT [] synonym: "Auricular Fibrillations" EXACT [] synonym: "Fibrillation, Atrial" EXACT [] synonym: "Fibrillation, Auricular" EXACT [] synonym: "Fibrillations, Atrial" EXACT [] synonym: "Fibrillations, Auricular" EXACT [] xref: DOID:0060224 {source="EFO:0000275", source="MONDO:equivalentTo"} xref: HP:0005110 {source="DOID:0060224", source="MONDO:otherHierarchy"} xref: ICD10:I48 xref: ICD9:427.31 {source="EFO:0000275", source="DOID:0060224", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10003658 xref: MESH:D001281 {source="https://orcid.org/0000-0003-1967-3726", source="EFO:0000275", source="DOID:0060224", source="MONDO:equivalentTo"} xref: MeSH:D001281 xref: MONDO:0004981 xref: NCIT:C50466 {source="EFO:0000275", source="DOID:0060224", source="MONDO:equivalentTo"} xref: NCIt:C50466 xref: OMIM:611819 xref: OMIM:613120 xref: OMIM:615770 xref: SCTID:49436004 {source="EFO:0000275", source="DOID:0060224", source="MONDO:equivalentTo"} xref: SNOMEDCT:49436004 xref: UMLS:C0004238 {source="DOID:0060224", source="MONDO:equivalentTo", source="NCIT:C50466"} is_a: EFO:0004269 ! cardiac arrhythmia is_a: MONDO:0007263 {source="EFO:0000275", source="NCIT:C50466"} ! cardiac rhythm disease relationship: EFO:0000784 UBERON:0002081 ! has_disease_location cardiac atrium property_value: exactMatch DOID:0060224 property_value: exactMatch http://identifiers.org/mesh/D001281 property_value: exactMatch http://identifiers.org/snomedct/49436004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004238 property_value: exactMatch NCIT:C50466 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000589 "atrial fibrillation (disease)" xsd:string [Term] id: EFO:0000276 name: obsolete_atrioventricular node def: "A small mass of specialized cardiac muscle fibers, located near the ostium of the coronary sinus and giving rise to the atrioventricular bundle of the conduction system of the heart." [] def: "Portion of the somite giving rise to body wall muscle masses." [] def: "Subdivision of conducting system of heart which is located in the muscular part of the interatrial septum that is continuous with the atrioventricular bundle." [] synonym: "A-V Node" EXACT [] synonym: "Aschoff-Tawara node" EXACT [] synonym: "Atrioventricular nodal muscle tissue" EXACT [] synonym: "atriovetricular node" EXACT [] synonym: "AV nodal muscle tissue" EXACT [] synonym: "AV node" EXACT [] synonym: "myotome somite 14" EXACT [] synonym: "Node of Tawara" EXACT [] xref: FMA:9478 xref: MA:0000095 xref: MAT:0000498 xref: NCIt:C32161 xref: TAO:0005070 xref: ZFA:0000044 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002352\nlabel: atrioventricular node" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002352 [Term] id: EFO:0000277 name: obsolete_cardiac atrium def: "General anatomical term which refers to a chamber or cavity to which are connected one or more chambers or passageways. Examples: right atrium of heart, atrium of middle nasal meatus, atrium of tympanic cavity, atrium of alveolus." [] def: "In the heart, the atrium is an upper chamber found on both sides of the heart. The left atrium receives red, oxygenated blood from the lungs by way of the pulmonary veins. The right atrium receives dark red blood from the other parts of the body." [] def: "Most anterior stretch of the embryonic/larval foregut. Its posterior boundary, where the pharynx starts is immediately posterior to the openings of the salivary gland ducts." [] def: "One of four heart chambers." [] def: "The paired upper chambers of the heart. The left atrium receives oxygenated blood from the pulmonary vein and pumps blood into the left ventricle. The right atrium receives venous deoxygenated blood from the entire body via the superior and inferior vena cavae and pumps blood into the right ventricle." [] synonym: "atrial tissue" EXACT [] synonym: "heart atria" EXACT [] synonym: "heart atrium" EXACT [] xref: BTO:0000903 xref: EHDAA:1265 xref: EMAPA:16688 xref: EV:0100018 xref: FMA:85574 xref: MA:0000073 xref: MAT:0000496 xref: MeSH:D006325 xref: MFO:0080900 xref: TAO:0000471 property_value: definition:citation "ZFA0000471" xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002081\nLabel: cardiac atrium" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002081 [Term] id: EFO:0000278 name: pancreatitis def: "Inflammation of the pancreas." [NCIT:C3306] def: "INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis." [] synonym: "inflammation of pancreas" EXACT [] synonym: "pancreas inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "Pancreatitides" EXACT [] synonym: "pancreatitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Pancreatitis (disorder)" EXACT [] synonym: "Pancreatitis NOS" EXACT [] synonym: "Pancreatitis, NOS" EXACT [] xref: DOID:4989 {source="MONDO:equivalentTo", source="EFO:0000278"} xref: MedDRA:10033645 xref: MESH:D010195 {source="MONDO:equivalentTo", source="EFO:0000278", source="DOID:4989"} xref: MeSH:D010195 xref: MONDO:0004982 xref: NCIT:C3306 {source="MONDO:equivalentTo", source="EFO:0000278", source="DOID:4989", source="MONDO:exact-label-match"} xref: NCIt:C3306 xref: SCTID:75694006 {source="MONDO:equivalentTo", source="EFO:0000278", source="DOID:4989"} xref: SNOMEDCT:75694006 xref: UMLS:C0030305 {source="MONDO:equivalentTo", source="DOID:4989", source="NCIT:C3306"} is_a: EFO:0009605 {source="DOID:4989", source="MESH:D010195", source="MONDO:Redundant", source="NCIT:C3306/inferred"} ! pancreas disease is_a: EFO:0009903 {source="MONDO:Redundant"} ! inflammatory disease relationship: EFO:0000784 UBERON:0001264 ! has_disease_location pancreas property_value: exactMatch DOID:4989 property_value: exactMatch http://identifiers.org/mesh/D010195 property_value: exactMatch http://identifiers.org/snomedct/75694006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030305 property_value: exactMatch NCIT:C3306 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000279 name: azoospermia def: "A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen." [] def: "A male infertility characterized by dirsuption of the process of sperm development from diploid cells into mature haploid spermatozoa." [DOID:0111910] synonym: "Azoospermia (finding)" EXACT [] synonym: "Count, Low Sperm" EXACT [] synonym: "Counts, Low Sperm" EXACT [] synonym: "Low Sperm Count" EXACT [] synonym: "Low Sperm Counts" EXACT [] synonym: "Oligospermia" EXACT [] synonym: "Oligozoospermia" EXACT [] synonym: "Sperm Count, Low" EXACT [] synonym: "Sperm Counts, Low" EXACT [] synonym: "spermatogenic failure" EXACT [DOID:14227] synonym: "spermatogenic failure" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0111910 {source="MONDO:equivalentTo"} xref: DOID:14227 xref: ICD9:606.0 xref: MedDRA:10003883 xref: MeSH:D053713 xref: MONDO:0004983 xref: NCIt:C80076 xref: OMIM:618086 xref: OMIM:618091 xref: OMIM:618110 xref: OMIM:618112 xref: OMIM:618115 xref: OMIM:618152 xref: OMIM:618153 xref: OMIM:618341 xref: OMIM:618420 xref: OMIM:618429 xref: OMIM:618433 xref: OMIMPS:258150 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: SNOMEDCT:425558002 xref: SNOMEDCT:48188009 is_a: EFO:0000508 ! genetic disorder is_a: EFO:0004248 {source="DOID:14227", source="MESH:D053713"} ! male infertility relationship: EFO:0000784 CL:0000019 ! has_disease_location sperm relationship: EFO:0000784 UBERON:0000079 ! has_disease_location male reproductive system relationship: EFO:0000784 UBERON:0000079 ! has_disease_location male reproductive system property_value: exactMatch DOID:0111910 property_value: exactMatch https://omim.org/phenotypicSeries/PS258150 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000280 name: Barrett's esophagus def: "A condition with damage to the lining of the lower ESOPHAGUS resulting from chronic acid reflux (ESOPHAGITIS, REFLUX). Through the process of metaplasia, the squamous cells are replaced by a columnar epithelium with cells resembling those of the INTESTINE or the salmon-pink mucosa of the STOMACH. Barrett's columnar epithelium is a marker for severe reflux and precursor to ADENOCARCINOMA of the esophagus." [] def: "Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO)" [NCIT:C2891] synonym: "(ulcerative esophagitis) or (Barrett's esophagus)" EXACT [] synonym: "adenocarcinoma of esophagus" RELATED [OMIM:614266] synonym: "adenocarcinoma of oesophagus" RELATED OMO:0003005 [] synonym: "Barrett Epithelium" EXACT [] synonym: "Barrett Esophagus" EXACT [] synonym: "Barrett esophagus" EXACT [] {comment="preferred label from MONDO"} synonym: "Barrett esophagus" EXACT [DOID:9206, MTH:NOCODE, NCIT:C2891, OMIM:614266] synonym: "Barrett esophagus/esophageal adenocarcinoma" EXACT [OMIM:614266, OMIM:genemap2] synonym: "Barrett metaplasia" RELATED [OMIM:614266] synonym: "Barrett Syndrome" EXACT [] synonym: "Barrett's esophagus" EXACT [DOID:9206, NCIT:C2891] synonym: "Barrett's esophagus (disorder)" EXACT [] synonym: "Barrett's esophagus (disorder) [Ambiguous]" EXACT [] synonym: "Barrett's esophagus with esophagitis" EXACT [DOID:9206] synonym: "Barrett's esophagus with esophagitis (disorder)" EXACT [] synonym: "Barrett's oesophagus" EXACT OMO:0003005 [] synonym: "Barrett's oesophagus with esophagitis" EXACT OMO:0003005 [] synonym: "Barrett's Syndrome" EXACT [] synonym: "Barrett's ulcer of esophagus" EXACT [DOID:9206] synonym: "Barrett's ulcer of esophagus (disorder)" EXACT [] synonym: "Barrett's ulcer of oesophagus" EXACT OMO:0003005 [] synonym: "Barretts Esophagus" EXACT [] synonym: "Barretts syndrome" EXACT [DOID:9206] synonym: "BE" EXACT ABBREVIATION [NCIT:C2891] synonym: "cello" EXACT [NCIT:C2891] synonym: "CLE" EXACT ABBREVIATION [DOID:9206, NCIT:C2891] synonym: "columnar epithelial-lined Lower esophagus" EXACT [NCIT:C2891] synonym: "columnar epithelial-lined Lower oesophagus" EXACT OMO:0003005 [] synonym: "columnar-lined esophagus" EXACT [NCIT:C2891] synonym: "columnar-lined oesophagus" EXACT OMO:0003005 [] synonym: "Epithelium, Barrett" EXACT [] synonym: "Esophagus, Barrett" EXACT [] synonym: "Esophagus, Barrett's" EXACT [] synonym: "Syndrome, Barrett" EXACT [] synonym: "Syndrome, Barrett's" EXACT [] synonym: "ulcerative esophagitis" EXACT [DOID:9206] xref: DOID:9206 {source="MONDO:equivalentTo", source="EFO:0000280"} xref: ICD9:530.85 {source="DOID:9206", source="EFO:0000280"} xref: MedDRA:10004134 xref: MESH:D001471 {source="DOID:9206", source="MONDO:equivalentTo", source="EFO:0000280"} xref: MeSH:D001471 xref: MONDO:0013662 xref: NCIT:C2891 {source="DOID:9206", source="MONDO:equivalentTo", source="EFO:0000280"} xref: NCIt:C2891 xref: OMIM:614266 {source="DOID:9206", source="MONDO:equivalentTo", source="EFO:0000280"} xref: Orphanet:1232 {source="OMIM:614266", source="MONDO:equivalentObsolete"} xref: Orphanet:99976 {source="OMIM:614266", source="MONDO:relatedTo"} xref: SCTID:196609006 {source="DOID:9206", source="MONDO:equivalentTo"} xref: SNOMEDCT:302914006 xref: UMLS:C0279628 {source="OMIM:614266", source="MONDO:relatedTo"} is_a: EFO:0009544 {source="DOID:9206", source="MESH:D001471", source="NCIT:C2891/inferred"} ! esophageal disease relationship: EFO:0000784 UBERON:0001043 ! has_disease_location esophagus property_value: exactMatch DOID:9206 property_value: exactMatch http://identifiers.org/mesh/D001471 property_value: exactMatch http://identifiers.org/snomedct/196609006 property_value: exactMatch https://omim.org/entry/614266 property_value: exactMatch NCIT:C2891 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: EFO:0000281 name: basal-like breast carcinoma def: "A biologic subset of breast carcinoma defined by high expression of genes characteristic of basal epithelial cells, including KRT5 and KRT17, annexin 8, CX3CL1, and TRIM29, and usually by lack of expression of the estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). It is the most common subtype of breast cancer associated with BRCA1 mutations, and is associated with a poor prognosis." [NCIT:C53558] synonym: "basal-like breast cancer" EXACT [NCIT:C53558] synonym: "basal-like breast carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "basal-like breast carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "basal-like breast carcinoma" EXACT [NCIT:C53558] synonym: "basal-like subtype of breast carcinoma" EXACT [NCIT:C53558] xref: EFO:0000281 {source="MONDO:equivalentTo"} xref: MONDO:0004984 xref: NCIT:C53558 {source="MONDO:equivalentTo", source="EFO:0000281"} xref: UMLS:C3642347 {source="NCIT:C53558", source="MONDO:equivalentTo"} is_a: EFO:0000186 {source="EFO:0000281"} ! invasive breast ductal carcinoma is_a: EFO:0005537 ! triple-negative breast cancer property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3642347 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3642347 property_value: exactMatch NCIT:C53558 property_value: exactMatch NCIT:C53558 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql [Term] id: EFO:0000283 name: behavioral stimulus def: "A treatment applied to a sample where some behaviour is expected as a result e.g. avoidance" [] synonym: "behavioral_stimulus" EXACT [] synonym: "behavioural stimulus" EXACT [] xref: MO:674 is_a: EFO:0002694 ! experimental process property_value: IAO:0000112 "avoidance" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000284 name: benign prostatic hyperplasia def: "A disease caused by hyperplastic process of non-transformed prostatic cells." [] def: "A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow." [] def: "A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow." [NCIT:C2897] def: "Increase in constituent cells in the PROSTATE, leading to enlargement of the organ (hypertrophy) and adverse impact on the lower urinary tract function. This can be caused by increased rate of cell proliferation, reduced rate of cell death, or both." [] synonym: "Adenofibromatous hypertrophy of prostate" EXACT [] synonym: "Adenofibromatous hypertrophy of prostate, NOS" EXACT [] synonym: "Adenoma, Prostatic" EXACT [] synonym: "Adenomas, Prostatic" EXACT [] synonym: "Adenomyomatous hyperplasia of prostate gland" EXACT [] synonym: "Benign adenoma of prostate" EXACT [] synonym: "Benign enlargement of prostate" EXACT [] synonym: "Benign enlargement of prostate, NOS" EXACT [] synonym: "Benign fibroma of prostate" EXACT [] synonym: "Benign Hyperplasia of Prostate" EXACT [] synonym: "benign hyperplasia of prostate" EXACT [NCIT:C2897] synonym: "Benign Hyperplasia of the Prostate" EXACT [] synonym: "benign hyperplasia of the prostate" EXACT [NCIT:C2897] synonym: "benign hypertrophy of prostate NOS" EXACT [] synonym: "Benign myoma of prostate" EXACT [] synonym: "Benign Prostate Hyperplasia" EXACT [] synonym: "benign prostate hyperplasia" EXACT [NCIT:C2897] synonym: "benign prostatic hyperplasia" EXACT [MONDO:ambiguous] synonym: "benign prostatic hyperplasia" EXACT [] {comment="preferred label from MONDO"} synonym: "benign prostatic hyperplasia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Benign prostatic hyperplasia (disorder)" EXACT [] synonym: "Benign Prostatic Hyperplasia - BPH" EXACT [] synonym: "benign prostatic hyperplasia - BPH" EXACT [NCIT:C2897] synonym: "Benign prostatic hyperplasia, NOS" EXACT [] synonym: "benign prostatic Hypertrophy" EXACT [NCIT:C2897] synonym: "benign prostatic hypertrophy" EXACT [NCIT:C2897] synonym: "BEP - Benign enlargement of prostate" EXACT [] synonym: "BPH" EXACT [] synonym: "BPH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600082] synonym: "BPH - Benign prostatic hypertrophy" EXACT [] synonym: "Enlarged prostate - benign" EXACT [] synonym: "Fibromuscular hyperplasia of prostate gland" EXACT [] synonym: "Glandular, stromal and muscular hyperplasia of prostate gland" EXACT [] synonym: "Glandular, stromal AND/OR muscular hyperplasia of prostate gland" EXACT [] synonym: "Hyperplasia of prostate" EXACT [] synonym: "Hyperplasia of prostate (disorder)" EXACT [] synonym: "Hyperplasia of prostate, NOS" EXACT [] synonym: "Hyperplasia, Prostatic" EXACT [] synonym: "Hypertrophy (benign) of prostate" EXACT [] synonym: "Hypertrophy, Benign Prostatic" EXACT [] synonym: "Lobular hyperplasia of prostate gland" EXACT [] synonym: "Nodular hyperplasia of prostate gland" EXACT [] synonym: "Prostatauxe" EXACT [] synonym: "prostate hypertrophy" BROAD [] synonym: "Prostatic Adenoma" EXACT [] synonym: "Prostatic Adenomas" EXACT [] synonym: "Prostatic area hypertrophy" EXACT [] synonym: "Prostatic hyper -benign" EXACT [] synonym: "Prostatic Hyperplasia" EXACT [] synonym: "Prostatic Hyperplasia, Benign" EXACT [] synonym: "prostatic hyperplasia, benign" RELATED [MONDO:Lexical, OMIM:600082] synonym: "Prostatic hypertrophy" EXACT [] synonym: "prostatic hypertrophy" BROAD [] synonym: "Prostatic Hypertrophy, Benign" EXACT [] xref: DOID:11132 {source="EFO:0000284", source="MONDO:equivalentTo"} xref: DOID:2883 {source="EFO:0000284", source="MONDO:directSiblingOf"} xref: HP:0008711 {source="MONDO:otherHierarchy"} xref: ICD10:N40 xref: ICD9:600 {source="EFO:0000284"} xref: ICD9:600.0 {source="EFO:0000284"} xref: ICD9:600.20 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10004446 xref: MESH:D011470 {source="EFO:0000284", source="MONDO:equivalentTo"} xref: MeSH:D011470 xref: MONDO:0010811 xref: NCIT:C2897 {source="EFO:0000284", source="MONDO:equivalentTo"} xref: NCIt:C2897 xref: OMIM:600082 {source="EFO:0000284", source="MONDO:equivalentTo"} xref: SCTID:266569009 {source="EFO:0000284", source="MONDO:equivalentTo"} xref: SNOMEDCT:266569009 xref: UMLS:C1704272 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:600082"} is_a: EFO:0000536 {source="EFO:0000284", source="MONDO:Redundant", source="NCIT:C2897"} ! hyperplasia is_a: EFO:0009602 {source="DOID:11132", source="MESH:D011470", source="MONDO:Redundant"} ! prostate disease relationship: EFO:0000784 UBERON:0002367 ! has_disease_location prostate gland property_value: exactMatch DOID:11132 property_value: exactMatch http://identifiers.org/mesh/D011470 property_value: exactMatch http://identifiers.org/snomedct/266569009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1704272 property_value: exactMatch https://omim.org/entry/600082 property_value: exactMatch NCIT:C2897 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: IAO:0000589 "benign prostatic hyperplasia (disease)" xsd:string [Term] id: EFO:0000286 name: obsolete_biomaterial factor property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "redundant use material entity" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ifomis.org/bfo/1.1/snap#MaterialEntity [Term] id: EFO:0000287 name: biopsy number def: "A biopsy number is an information entity about the numerical label given to a partciular biopsy obtained." [] is_a: EFO:0001444 ! measurement property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000288 name: biopsy site def: "The physical site from which tissue has been removed from a living organism. Does not imply any statistical significance, i.e. that it is a statistically representative sample of the whole." [] comment: There is possible overlap here with sample and perhaps should be merged. xref: NCIt:C77677 xref: SNOMEDCT:396991001 is_a: BFO:0000029 ! site property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000289 name: obsolete_bipolar disorder def: "A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence (MeSH)." [] def: "A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence." [] synonym: "[X]Bipolar affective disorder, unspecified" EXACT [] synonym: "[X]Bipolar affective disorder, unspecified (disorder)" EXACT [] synonym: "Affective Bipolar Psychosis" EXACT [] synonym: "Affective Psychosis, Bipolar" EXACT [] synonym: "Bipolar affective disorder" EXACT [] synonym: "Bipolar affective disorder , current episode mixed (disorder)" EXACT [] synonym: "Bipolar affective disorder, current episode depression (disorder)" EXACT [] synonym: "Bipolar affective disorder, manic, unspecified degree" EXACT [] synonym: "Bipolar affective disorder, mixed, unspecified degree" EXACT [] synonym: "Bipolar Affective Psychosis" EXACT [] synonym: "Bipolar Depression" EXACT [] synonym: "BIPOLAR DIS" EXACT [] synonym: "bipolar disease" EXACT [] synonym: "Bipolar disorder (disorder)" EXACT [] synonym: "bipolar disorder manic phase" EXACT [] synonym: "BIPOLAR DISORDER NOS" EXACT [] synonym: "Bipolar disorder, NOS" EXACT [] synonym: "Bipolar disorder, unspecified" EXACT [] synonym: "Bipolar Disorders" EXACT [] synonym: "Depression, Bipolar" EXACT [] synonym: "Depressive-manic psych." EXACT [] synonym: "Disorder, Bipolar" EXACT [] synonym: "Disorder, Manic" EXACT [] synonym: "Mania" EXACT [] synonym: "Manias" EXACT [] synonym: "Manic Bipolar Affective disorder" EXACT [] synonym: "Manic bipolar I disorder" EXACT [] synonym: "Manic bipolar I disorder (disorder)" EXACT [] synonym: "Manic Depressive disorder" EXACT [] synonym: "MANIC DEPRESSIVE ILLNESS" EXACT [] synonym: "Manic Depressive Psychosis" EXACT [] synonym: "MANIC DIS" EXACT [] synonym: "Manic Disorder" EXACT [] synonym: "Manic Disorders" EXACT [] synonym: "Manic State" EXACT [] synonym: "Manic States" EXACT [] synonym: "Manic-Depression" EXACT [] synonym: "Manic-depressive illness" EXACT [] synonym: "Manic-Depressive Psychoses" EXACT [] synonym: "Manic-depressive psychosis" EXACT [] synonym: "Manic-depressive syndrome NOS" EXACT [] synonym: "MDI - Manic-depressive illness" EXACT [] synonym: "mixed bipolar affective disorder (disorder)" EXACT [] synonym: "mixed bipolar affective disorder, NOS (disorder)" EXACT [] synonym: "mixed bipolar disorder" EXACT [] synonym: "mixed bipolar I disorder (disorder)" EXACT [] synonym: "Psychoses, Bipolar Affective" EXACT [] synonym: "Psychoses, Manic Depressive" EXACT [] synonym: "Psychoses, Manic-Depressive" EXACT [] synonym: "Psychosis, Bipolar Affective" EXACT [] synonym: "Psychosis, Manic Depressive" EXACT [] synonym: "Psychosis, Manic-Depressive" EXACT [] synonym: "State, Manic" EXACT [] synonym: "States, Manic" EXACT [] synonym: "Unspecified bipolar affective disorder" EXACT [] synonym: "Unspecified bipolar affective disorder (disorder)" EXACT [] synonym: "Unspecified bipolar affective disorder, NOS" EXACT [] synonym: "Unspecified bipolar affective disorder, NOS (disorder)" EXACT [] synonym: "Unspecified bipolar affective disorder, unspecified" EXACT [] synonym: "Unspecified bipolar affective disorder, unspecified (disorder)" EXACT [] xref: DOID:3312 xref: ICD10:F31 xref: ICD9:296.80 xref: MedDRA:10057667 xref: MeSH:D001714 xref: NCIt:C34423 xref: NIFSTD:birnlex_12754 xref: OMIM:612357 xref: OMIM:612371 xref: SNOMEDCT:13746004 property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.47.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replaced by Mondo term.\nSee: https://github.com/EBISPOT/efo/issues/1750\nUse: http://purl.obolibrary.org/obo/MONDO_0004985" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/MONDO_0004985 [Term] id: EFO:0000290 name: obsolete_bladder def: "A membranous sac in animals that serves as the receptacle of a liquid or contains gas." [] def: "Organ with organ cavity which is continuous proximally with the right and left ureters and distally with the urethra. Examples: There is only one urinary bladder." [] def: "The distensible sac-like organ that functions as a reservoir of urine, collecting from the kidneys and eliminating via the urethra." [] synonym: "Urinary bladder" EXACT [] synonym: "Urinary System, Bladder" EXACT [] xref: AAO:0000623 xref: BTO:0000123 xref: EHDAA:9328 xref: EMAPA:18321 xref: EV:0100098 xref: FMA:15900 xref: MA:0000380 xref: MAT:0000122 xref: NCIt:C12414 xref: SAEL:115 xref: XAO:0000154 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001255\nlabel: urinary bladder" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001255 [Term] id: EFO:0000291 name: obsolete_bladder MMHCC comment: Obsolete: No longer required in EFO xref: NCIt:C22729 property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000292 name: obsolete_bladder carcinoma def: "A carcinoma that arises from epithelial cells of the urinary bladder" [] synonym: "bladder cancer" BROAD [] synonym: "bladder carcinoma" EXACT [] synonym: "cancer of bladder" BROAD [] synonym: "cancer of the bladder" BROAD [] synonym: "cancer of the urinary bladder" BROAD [] synonym: "cancer of urinary bladder" BROAD [] synonym: "carcinoma bladder" EXACT [] synonym: "carcinoma of bladder" EXACT [] synonym: "carcinoma of the bladder" EXACT [] synonym: "carcinoma of the urinary bladder" EXACT [] synonym: "carcinoma of urinary bladder" EXACT [] synonym: "urinary bladder cancer" BROAD [] synonym: "urinary bladder carcinoma" EXACT [] xref: DOID:4007 xref: EFO:0000292 xref: HP:0002862 xref: NCIT:C4912 xref: OMIM:109800 xref: SCTID:255108000 xref: UMLS:C0699885 property_value: closeMatch http://identifiers.org/mesh/D001749 property_value: closeMatch http://identifiers.org/snomedct/154540000 property_value: closeMatch http://identifiers.org/snomedct/269607003 property_value: exactMatch DOID:4007 property_value: exactMatch http://identifiers.org/snomedct/255108000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0699885 property_value: exactMatch NCIT:C4912 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.38.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replaced with Mondo term\nsee https://github.com/ebispot/efo/issues/1381" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/MONDO_0004986 [Term] id: EFO:0000293 name: obsolete_bladder mucosa xref: NCIt:C32205 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with UBERON_0001259" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001259 [Term] id: EFO:0000294 name: bladder tumor def: "A benign or malignant, primary or metastatic neoplasm of the bladder. - 2003" [NCIT:C2901] synonym: "bladder neoplasm" EXACT [https://orcid.org/0000-0002-6601-2165, NCIT:C2901] synonym: "bladder neoplasm" EXACT [MONDO:DesignPattern, NCIT:C2901] synonym: "bladder tumor" EXACT [NCIT:C2901] synonym: "bladder tumors" EXACT [NCIT:C2901] synonym: "bladder tumour" EXACT OMO:0003005 [] synonym: "bladder tumours" EXACT OMO:0003005 [] synonym: "neoplasm of bladder" EXACT [NCIT:C2901] synonym: "neoplasm of the bladder" EXACT [NCIT:C2901] synonym: "neoplasm of the urinary bladder" EXACT [NCIT:C2901] synonym: "neoplasm of urinary bladder" EXACT [MONDO:patterns/neoplasm, NCIT:C2901] synonym: "tumor of bladder" EXACT [NCIT:C2901] synonym: "tumor of the bladder" EXACT [NCIT:C2901] synonym: "tumor of the urinary bladder" EXACT [NCIT:C2901] synonym: "tumor of urinary bladder" EXACT [MONDO:patterns/neoplasm, NCIT:C2901] synonym: "tumour of bladder" EXACT OMO:0003005 [] synonym: "tumour of the bladder" EXACT OMO:0003005 [] synonym: "tumour of the urinary bladder" EXACT OMO:0003005 [] synonym: "tumour of urinary bladder" EXACT OMO:0003005 [] synonym: "urinary bladder neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "urinary bladder neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "urinary bladder neoplasm" EXACT [NCIT:C2901] synonym: "urinary bladder neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "urinary bladder neoplasms" EXACT [NCIT:C2901] synonym: "urinary bladder tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2901] synonym: "urinary bladder tumors" EXACT [NCIT:C2901] synonym: "urinary bladder tumour" EXACT OMO:0003005 [] synonym: "urinary bladder tumours" EXACT OMO:0003005 [] xref: COHD:200680 {source="MONDO:equivalentTo"} xref: EFO:0000294 {source="MONDO:equivalentTo"} xref: ICD9:239.4 {source="MONDO:equivalentTo", source="i2s"} xref: ICD9:239.4 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MONDO:0004987 xref: NCIT:C2901 {source="EFO:0000294", source="MONDO:equivalentTo"} xref: SCTID:126885006 {source="EFO:0000294", source="MONDO:equivalentTo"} xref: UMLS:C0005695 {source="NCIT:C2901", source="MONDO:equivalentTo"} is_a: EFO:1000018 {source="MONDO:Redundant", source="NCIT:C2901"} ! bladder disease is_a: MONDO:0021066 {source="MONDO:Redundant", source="NCIT:C2901"} ! urinary system neoplasm relationship: EFO:0000784 UBERON:0001255 ! has_disease_location urinary bladder property_value: closeMatch http://identifiers.org/mesh/D001749 property_value: exactMatch http://identifiers.org/snomedct/126885006 property_value: exactMatch http://identifiers.org/snomedct/126885006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005695 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005695 property_value: exactMatch NCIT:C2901 property_value: exactMatch NCIT:C2901 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/neoplasm.yaml [Term] id: EFO:0000295 name: obsolete_blastocyst def: "An embryo made up of two groups of cells. One group will develop into the fetus and the other will become the placenta." [] def: "The modified blastula of a placental mammal." [] synonym: "Blastosphere" EXACT [] synonym: "Blastula" EXACT [] xref: BTO:0001099 xref: NCIt:C13739 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000358\nlabel: blastocyst" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000358 [Term] id: EFO:0000296 name: obsolete_blood def: "1: The fluid that circulates in the heart, arteries, capillaries, and veins of a vertebrate animal carrying nourishment and oxygen to and bringing away waste products from all parts of the body.n2: A comparable fluid of an invertebrate." [] def: "A cell found predominately in the blood." [] def: "A liquid tissue; its major function is to transport oxygen throughout the body. It also supplies the tissues with nutrients, removes waste products, and contains various components of the immune system defending the body against infection. Several hormones also travel in the blood." [] synonym: "PBMC" EXACT [] synonym: "PBMCs" EXACT [] synonym: "Peripheral Blood" EXACT [] synonym: "Reticuloendothelial System, Blood" EXACT [] synonym: "whole blood" EXACT [] xref: BTO:0000089 xref: MA:0000059 xref: MAT:0000083 xref: MO:409 xref: NCIt:C12434 xref: SAEL:8 xref: TAO:0009044 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000178\nlabel: blood" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000178 [Term] id: EFO:0000298 name: obsolete_bone property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0001474 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001474 [Term] id: EFO:0000299 name: obsolete_bone MMHCC comment: Obsolete: No longer required in EFO xref: NCIt:C22682 property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000301 name: obsolete_bone marrow MMHCC comment: Obsolete: No longer required in EFO xref: NCIt:C22552 property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000302 name: obsolete_brain def: "An organ composed of grey and white matter containing billions of neurons that is the center for intelligence and reasoning. It is protected by the bony cranium." [] def: "Brain of the adult." [] def: "Cavitated compound organ which is comprised of gray and white matter and surrounds the cerebral ventricular system." [] def: "Segment of neuraxis that has as its parts gray matter and white matter that surround the cerebral ventricular system; Examples: There is only one brain." [] def: "The central nervous system is that part of the nervous system that consists of the brain and spinal cord. The central nervous system (CNS) is one of the two major divisions of the nervous system. The other is the peripheral nervous system (PNS) which is outside the brain and spinal cord." [] def: "The part of the central nervous system contained within the cranium, comprising the prosencephalon, mesencephalon, and rhombencephalon. It is derived from the anterior part of the embryonic neural tube.\n\n * Subdivision of neuraxis that consists of neural tissue (which is organized into gray matter and white matter) and the cerebral ventricular system (cavity of organ part); it is embryologically derived from the rostral part of the neural tube; together with the spinal cord, the brain constitutes the organ neuraxis. Examples: There is only one brain. (UWDA) * That part of the central nervous system contained within the cranium, comprising the prosencephalon, mesencephalon, and rhombencephalon. It is derived from the anterior part of the embryonic neural tube. Functions include muscle control and coordination, sensory reception and integration, speech production, memory storage, and the elaboration of thought and emotions. (NCI) * The part of the central nervous system contained within the cranium, comprising the prosencephalon, mesencephalon, and rhombencephalon. It is derived from the anterior part of the embryonic neural tube. (MSH) * portion of the vertebrate central nervous system that is enclosed within the cranium, continuous with the spinal cord, and composed of gray matter and white matter; the primary center for the regulation and control of bodily activities, receiving and interpreting sensory impulses, and transmitting information to the muscles and body organs; also the seat of consciousness, thought, memory, and emotion; includes the functionally similar portion of the invertebrate nervous system. (CSP)" [] synonym: "adult brain" EXACT [] synonym: "brain structure" EXACT [] synonym: "Brain, Nervous System" EXACT [] synonym: "cerebrospinal axis" EXACT [] synonym: "Nervous System, Brain" EXACT [] synonym: "neuraxis" EXACT [] synonym: "synganglion" EXACT [] xref: BTO:0000227 xref: EHDAA:2641 xref: EV:0100164 xref: FBbt:00003624 xref: FMA:50801 xref: MA:0000168 xref: MAT:0000098 xref: MeSH:D001921 xref: MFO:0002240 xref: NCIt:C12439 xref: NIFSTD:birnlex_796 xref: SAEL:12 xref: TADS:0000188 xref: TAO:0000008 xref: WBbt:0005440 xref: ZFA:0000008 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000955\nlabel: brain" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jon Ison" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000955 [Term] id: EFO:0000304 name: breast adenocarcinoma def: "A carcinoma that arises from glandular epithelial cells of the breast" [MONDO:DesignPattern] def: "A carcinoma that arises from glandular epithelial cells of the breast" [https://orcid.org/0000-0002-6601-2165] synonym: "adenocarcinoma of breast" EXACT [DOID:3458, NCIT:C5214] synonym: "adenocarcinoma of the breast" EXACT [NCIT:C5214] synonym: "breast adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C5214] synonym: "breast adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "breast adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "mammary adenocarcinoma" EXACT [DOID:3458, NCIT:C5214] xref: DOID:3458 {source="MONDO:equivalentTo", source="EFO:0000304"} xref: EFO:0000304 {source="MONDO:equivalentTo"} xref: MONDO:0004988 xref: NCIT:C5214 {source="DOID:3458", source="MONDO:equivalentTo", source="EFO:0000304", source="MONDO:exact-label-match"} xref: NCIT:C5214 {source="DOID:3458", source="MONDO:equivalentTo", source="EFO:0000304", source="exact-label-match"} is_a: EFO:0000228 {source="DOID:3458", source="EFO:0000304", source="MONDO:Redundant", source="NCIT:C5214"} ! adenocarcinoma is_a: EFO:0000305 {source="DOID:3458", source="EFO:0000304", source="MONDO:Redundant", source="NCIT:C5214"} ! breast carcinoma is_a: MONDO:0000653 ! integumentary system cancer relationship: EFO:0000784 UBERON:0001911 ! has_disease_location mammary gland property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0858252 property_value: exactMatch DOID:3458 property_value: exactMatch DOID:3458 property_value: exactMatch NCIT:C5214 property_value: exactMatch NCIT:C5214 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/adenocarcinoma.yaml [Term] id: EFO:0000305 name: breast carcinoma def: "A carcinoma that arises from epithelial cells of the breast" [https://orcid.org/0000-0002-6601-2165] def: "A carcinoma that arises from epithelial cells of the breast" [MONDO:DesignPattern] synonym: "breast cancer" BROAD [NCIT:C4872] synonym: "breast cancer, NOS" BROAD [NCIT:C4872] synonym: "breast carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "breast carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "breast carcinoma" EXACT [MONDO:patterns/location, NCIT:C4872] synonym: "cancer of breast" BROAD [NCIT:C4872] synonym: "cancer of the breast" BROAD [NCIT:C4872] synonym: "cancer, breast" BROAD [NCIT:C4872] synonym: "carcinoma of breast" EXACT [DOID:3459, MONDO:patterns/carcinoma, NCIT:C4872] synonym: "carcinoma of the breast" EXACT [NCIT:C4872] synonym: "mammary carcinoma" EXACT [DOID:3459, NCIT:C4872] xref: DOID:3459 {source="MONDO:equivalentTo", source="EFO:0000305"} xref: EFO:0000305 {source="MONDO:equivalentTo", source="DOID:3459"} xref: MONDO:0004989 xref: NCIT:C4872 {source="MONDO:equivalentTo", source="DOID:3459", source="EFO:0000305"} xref: OMIM:114480 xref: OMIM:615554 xref: SCTID:254838004 {source="MONDO:equivalentTo", source="DOID:3459", source="EFO:0000305"} xref: UMLS:C0678222 {source="MONDO:equivalentTo", source="NCIT:C4872", source="DOID:3459"} is_a: EFO:0000313 {source="DOID:3459", source="EFO:0000305", source="MONDO:Redundant", source="NCIT:C4872"} ! carcinoma is_a: MONDO:0007254 {source="DOID:3459", source="MONDO:Redundant", source="NCIT:C4872"} ! breast cancer property_value: closeMatch http://identifiers.org/snomedct/154513000 property_value: closeMatch http://identifiers.org/snomedct/286898006 property_value: exactMatch DOID:3459 property_value: exactMatch DOID:3459 property_value: exactMatch http://identifiers.org/snomedct/254838004 property_value: exactMatch http://identifiers.org/snomedct/254838004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0678222 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0678222 property_value: exactMatch NCIT:C4872 property_value: exactMatch NCIT:C4872 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:0000306 name: breast tumor luminal def: "Subsets of breast carcinoma defined by expression of genes characteristic of luminal epithelial cells." [NCIT:C53554, NCIT:C53555] synonym: "breast tumor luminal" EXACT [DOID:0060548] synonym: "breast tumor luminal A or B" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "breast tumor luminal A or B" EXACT [] {comment="preferred label from MONDO"} synonym: "breast tumour luminal" EXACT OMO:0003005 [] synonym: "luminal breast cancer" EXACT [DOID:0060548] synonym: "luminal breast carcinoma" RELATED [DOID:0060548] xref: DOID:0060548 {source="MONDO:equivalentTo"} xref: EFO:0000306 {source="MONDO:equivalentTo", source="DOID:0060548"} xref: MONDO:0004990 is_a: EFO:1000143 {source="NCIT:C53555"} ! Breast Carcinoma by Gene Expression Profile property_value: exactMatch DOID:0060548 property_value: exactMatch DOID:0060548 [Term] id: EFO:0000307 name: obsolete_bronchial epithelium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0002031 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002031 [Term] id: EFO:0000308 name: bronchoalveolar adenocarcinoma def: "A solitary adenocarcinoma arising from the lung measuring 3 cm or less. It is characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension. It is usually a non-mucinous adenocarcinoma, but rarely may be mucinous." [NCIT:C2923, NCIT:P378] synonym: "bac" EXACT [NCIT:C2923] synonym: "bronchioalveolar adenocarcinoma of lung" EXACT [NCIT:C2923] synonym: "bronchioalveolar adenocarcinoma of the lung" EXACT [NCIT:C2923] synonym: "bronchioalveolar lung carcinoma" EXACT [DOID:4926, NCIT:C2923] synonym: "bronchiolo-alveolar adenocarcinoma" RELATED [DOID:4926] synonym: "bronchiolo-alveolar carcinoma of lung" EXACT [NCIT:C2923] synonym: "bronchiolo-alveolar carcinoma of the lung" EXACT [NCIT:C2923] synonym: "bronchiolo-alveolar lung carcinoma" EXACT [NCIT:C2923] synonym: "bronchioloalveolar adenocarcinoma of lung" EXACT [NCIT:C2923] synonym: "bronchioloalveolar adenocarcinoma of the lung" EXACT [NCIT:C2923] synonym: "bronchioloalveolar carcinoma" EXACT [DOID:4926, NCIT:C2923] synonym: "bronchioloalveolar lung adenocarcinoma" EXACT [NCIT:C2923] synonym: "carcinoma, bronchioloalveolar, malignant" EXACT [NCIT:C2923] synonym: "minimally invasive lung adenocarcinoma" EXACT [DOID:4926, NCIT:C2923] synonym: "minimally invasive lung adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "minimally invasive lung adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} xref: DOID:4926 {source="MONDO:equivalentTo", source="EFO:0000308"} xref: EFO:0000308 {source="MONDO:equivalentTo"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:8250/3 {source="NCIT:C2923"} xref: ICDO:8251/3 {source="NCIT:C2923"} xref: MESH:D002282 {source="MONDO:equivalentTo", source="DOID:4926", source="EFO:0000308"} xref: MONDO:0004991 xref: NCIT:C2923 {source="MONDO:equivalentTo", source="DOID:4926", source="EFO:0000308"} xref: SCTID:373627005 {source="MONDO:equivalentTo", source="DOID:4926", source="EFO:0000308"} is_a: EFO:0000571 {source="DOID:4926", source="NCIT:C2923"} ! lung adenocarcinoma relationship: EFO:0000784 UBERON:0002048 ! has_disease_location lung property_value: closeMatch http://identifiers.org/snomedct/112677002 property_value: closeMatch http://identifiers.org/snomedct/307595008 property_value: closeMatch http://identifiers.org/snomedct/36310008 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0007120 property_value: exactMatch DOID:4926 property_value: exactMatch DOID:4926 property_value: exactMatch http://identifiers.org/mesh/D002282 property_value: exactMatch http://identifiers.org/mesh/D002282 property_value: exactMatch http://identifiers.org/snomedct/373627005 property_value: exactMatch http://identifiers.org/snomedct/373627005 property_value: exactMatch NCIT:C2923 property_value: exactMatch NCIT:C2923 [Term] id: EFO:0000309 name: Burkitts lymphoma def: "Burkitt lymphoma is a rare form of malignant mature B-cell non-Hodgkin lymphoma." [Orphanet:543] subset: ordo_disease {source="Orphanet:543"} synonym: "BL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:113970] synonym: "Burkitt lymphoma" EXACT [MONDO:Lexical, NCIT:C2912, OMIM:113970] synonym: "Burkitt lymphoma" EXACT [] {comment="preferred label from MONDO"} synonym: "Burkitt lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "burkitt lymphoma, somatic" EXACT [OMIM:113970, OMIM:genemap2] synonym: "Burkitt lymphoma/leukaemia" EXACT [DOID:8584] synonym: "Burkitt lymphoma/leukemia" EXACT [DOID:8584] synonym: "Burkitt's lymphoma" EXACT [DOID:8584, MTH:NOCODE, NCIT:C2912] synonym: "Burkitt's tumor" EXACT [CSP2005:2004-6947, DOID:8584] synonym: "Burkitt's tumor" EXACT [DOID:8584] synonym: "Burkitt's tumor or lymphoma" EXACT [DOID:8584] synonym: "Burkitt's tumour" EXACT OMO:0003005 [] synonym: "Burkitt's tumour or lymphoma" EXACT OMO:0003005 [] synonym: "malignant lymphoma, Burkitt's type" EXACT [DOID:8584, MTHICD9_2006:200.2] synonym: "malignant lymphoma, Burkitt's type" EXACT [DOID:8584] synonym: "small non-cleaved cell lymphoma" EXACT [Orphanet:543] synonym: "small non-cleaved cell lymphoma, Burkitt's type" EXACT [DOID:8584, NCIT:C2912] xref: COHD:4041800 {source="MONDO:equivalentTo"} xref: DOID:8584 {source="MONDO:equivalentTo", source="EFO:0000309"} xref: EFO:0000309 {source="MONDO:equivalentTo"} xref: GARD:0005973 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: ICD10:C83.7 {source="Orphanet:543", source="ORDO:543/e", source="DOID:8584"} xref: ICD10:C83.70 {source="DOID:8584"} xref: ICD9:200.2 {source="DOID:8584", source="EFO:0000309"} xref: ICDO:9687/3 {source="NCIT:C2912"} xref: MedDRA:10006595 {source="Orphanet:543", source="ORDO:543/e"} xref: MedDRA:10006595 {source="Orphanet:543", source="Orphanet:543/e"} xref: MedDRA:10053518 {source="Orphanet:543", source="ORDO:543/e"} xref: MedDRA:10053518 {source="Orphanet:543", source="Orphanet:543/e"} xref: MedDRA:10067184 {source="Orphanet:543", source="Orphanet:543/e"} xref: MedDRA:10067184 {source="Orphanet:543", source="ORDO:543/e"} xref: MESH:D002051 {source="Orphanet:543", source="MONDO:equivalentTo", source="ORDO:543/e", source="DOID:8584", source="EFO:0000309"} xref: MESH:D002051 {source="Orphanet:543", source="MONDO:equivalentTo", source="Orphanet:543/e", source="DOID:8584", source="EFO:0000309"} xref: MONDO:0007243 xref: NCIT:C2912 {source="MONDO:equivalentTo", source="DOID:8584", source="EFO:0000309"} xref: OMIM:113970 {source="Orphanet:543", source="MONDO:equivalentTo", source="ORDO:543/e", source="DOID:8584", source="EFO:0000309"} xref: OMIM:113970 {source="Orphanet:543", source="MONDO:equivalentTo", source="Orphanet:543/e", source="DOID:8584", source="EFO:0000309"} xref: ONCOTREE:BL {source="MONDO:equivalentTo"} xref: Orphanet:543 {source="MONDO:equivalentTo", source="OMIM:113970"} xref: SCTID:118617000 {source="MONDO:equivalentTo", source="DOID:8584"} xref: SCTID:277571004 {source="MONDO:relatedTo", source="DOID:8584"} xref: UMLS:C0006413 {source="NCIT:C2912", source="Orphanet:543", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:113970", source="Orphanet:543/e", source="DOID:8584"} xref: UMLS:C0006413 {source="NCIT:C2912", source="Orphanet:543", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:113970", source="ORDO:543/e", source="DOID:8584"} is_a: EFO:0000096 {source="DOID:8584", source="EFO:0000309", source="NCIT:C2912/inferred", source="ONCOTREE:BL"} ! neoplasm of mature B-cells is_a: MONDO:0017343 {source="Orphanet:543"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder is_a: MONDO:0017595 {source="Orphanet:543"} ! aggressive B-cell non-Hodgkin lymphoma property_value: closeMatch http://identifiers.org/meddra/10006595 property_value: closeMatch http://identifiers.org/meddra/10053518 property_value: closeMatch http://identifiers.org/meddra/10067184 property_value: closeMatch http://identifiers.org/snomedct/154581008 property_value: closeMatch http://identifiers.org/snomedct/188509006 property_value: closeMatch http://identifiers.org/snomedct/188518008 property_value: closeMatch http://identifiers.org/snomedct/190022008 property_value: closeMatch http://identifiers.org/snomedct/190023003 property_value: closeMatch http://identifiers.org/snomedct/22197008 property_value: closeMatch http://identifiers.org/snomedct/397400006 property_value: closeMatch http://identifiers.org/snomedct/77381001 property_value: closeMatch NCIT:C7400 property_value: exactMatch DOID:8584 property_value: exactMatch DOID:8584 property_value: exactMatch http://identifiers.org/meddra/10006595 property_value: exactMatch http://identifiers.org/meddra/10053518 property_value: exactMatch http://identifiers.org/meddra/10067184 property_value: exactMatch http://identifiers.org/mesh/D002051 property_value: exactMatch http://identifiers.org/mesh/D002051 property_value: exactMatch http://identifiers.org/omim/113970 property_value: exactMatch http://identifiers.org/snomedct/118617000 property_value: exactMatch http://identifiers.org/snomedct/118617000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006413 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006413 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0079770 property_value: exactMatch https://omim.org/entry/113970 property_value: exactMatch NCIT:C2912 property_value: exactMatch NCIT:C2912 property_value: exactMatch Orphanet:543 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: EFO:0000310 name: obsolete_calpainopathy def: "A heterogenous group of inherited muscular dystrophy that can be autosomal dominant or autosomal recessive. There are many forms (called LGMDs) involving genes encoding muscle membrane proteins such as the sarcoglycan (SARCOGLYCANS) complex that interacts with DYSTROPHIN. The disease is characterized by progressing wasting and weakness of the proximal muscles of arms and legs around the HIPS and SHOULDERS (the pelvic and shoulder girdles)." [] xref: DOID:11724 xref: MeSH:D049288 xref: SNOMEDCT:93153005 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.8" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate of limb-girdle muscular dystrophy EFO_0000758" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000758 [Term] id: EFO:0000311 name: obsolete_cancer def: "A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas." [] synonym: "CA" EXACT [] synonym: "cancer" EXACT [] synonym: "cell type cancer" EXACT [] synonym: "malignancy" EXACT [] synonym: "malignant Growth" EXACT [] synonym: "malignant neoplasm" EXACT [] synonym: "malignant neoplasm (disease)" EXACT [] synonym: "malignant neoplastic disease" EXACT [] synonym: "malignant tumor" EXACT [] synonym: "MT" RELATED [] synonym: "neoplasm (disease), malignant" EXACT [] synonym: "neoplasm, malignant" EXACT [] synonym: "organ system cancer" EXACT [] synonym: "primary cancer" EXACT [] xref: COHD:443392 xref: DOID:0050686 xref: DOID:0050687 xref: DOID:162 xref: EFO:0000311 xref: GARD:0011960 xref: ICD10:C80 xref: ICD10:C80.1 xref: ICD9:195.8 xref: ICD9:199 xref: ICD9:199.1 xref: ICDO:8000/3 xref: NCIT:C9305 xref: NIFSTD:birnlex_406 xref: ONCOTREE:MT xref: SCTID:363346000 xref: UMLS:C0006826 property_value: closeMatch http://identifiers.org/mesh/D009371 property_value: closeMatch http://identifiers.org/snomedct/154432008 property_value: closeMatch http://identifiers.org/snomedct/154433003 property_value: closeMatch http://identifiers.org/snomedct/154577008 property_value: closeMatch http://identifiers.org/snomedct/187597000 property_value: closeMatch http://identifiers.org/snomedct/188475001 property_value: closeMatch http://identifiers.org/snomedct/188482002 property_value: closeMatch http://identifiers.org/snomedct/190150006 property_value: closeMatch http://identifiers.org/snomedct/269513004 property_value: closeMatch http://identifiers.org/snomedct/269623003 property_value: closeMatch http://identifiers.org/snomedct/269626006 property_value: closeMatch http://identifiers.org/snomedct/269634000 property_value: closeMatch http://identifiers.org/snomedct/38807002 property_value: exactMatch DOID:0050686 property_value: exactMatch DOID:0050687 property_value: exactMatch DOID:162 property_value: exactMatch http://identifiers.org/snomedct/363346000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006826 property_value: exactMatch NCIT:C9305 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/malignant.yaml property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.47.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replaced by Mondo term.\nSee: https://github.com/EBISPOT/efo/issues/1750\nUse: http://purl.obolibrary.org/obo/MONDO_0004992" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/MONDO_0004992 [Term] id: EFO:0000312 name: cancer site def: "Location of cancer, primary or metastatic" [] comment: This will be obsoleted in near future. synonym: "CancerSite" EXACT [] xref: MO:26 is_a: BFO:0000029 ! site disjoint_from: EFO:0001460 ! uninfected disjoint_from: EFO:0001461 ! control property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000313 name: carcinoma def: "A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas. Morphologically, the malignant epithelial cells may display abnormal mitotic figures, anaplasia, and necrosis. Carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Carcinomas invade the surrounding tissues and tend to metastasize to other anatomic sites. Lung carcinoma, skin carcinoma, breast carcinoma, colon carcinoma, and prostate carcinoma are the most frequently seen carcinomas." [NCIT:C2916] synonym: "carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "carcinoma" EXACT [NCIT:C2916] synonym: "carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "carcinoma, malignant" EXACT [NCIT:C2916] synonym: "epithelial carcinoma" EXACT [NCIT:C2916] synonym: "epithelioma" BROAD [DOID:305] synonym: "epithelioma" EXACT [CSP2005:2000-5801, DOID:305] synonym: "epithelioma malignant" EXACT [NCIT:C2916] synonym: "malignant epithelial neoplasm" EXACT [NCIT:C2916] synonym: "malignant epithelial tumor" EXACT [NCIT:C2916] synonym: "malignant epithelial tumour" EXACT OMO:0003005 [] synonym: "malignant epithelioma" EXACT [DOID:305, NCIT:C2916, NCIT:C6927] synonym: "Other carcinoma" EXACT [NCIT:C2916] xref: CSP:2000-1867 {source="DOID:305"} xref: DOID:305 {source="MONDO:equivalentTo", source="EFO:0000313"} xref: EFO:0000313 {source="MONDO:equivalentTo"} xref: ICDO:8010/3 {source="NCIT:C2916"} xref: ICDO:8011/3 {source="NCIT:C2916"} xref: MESH:D002277 {source="DOID:305", source="MONDO:equivalentTo", source="EFO:0000313"} xref: MONDO:0004993 xref: NCIT:C2916 {source="DOID:305", source="MONDO:equivalentTo", source="EFO:0000313"} xref: SCTID:722688002 {source="MONDO:equivalentTo"} xref: UMLS:C0007097 {source="DOID:305", source="NCIT:C2916", source="MONDO:equivalentTo"} is_a: EFO:0006858 {source="MESH:D002277", source="MONDO:Redundant", source="NCIT:C2916"} ! epithelial neoplasm is_a: MONDO:0004992 {source="DOID:305", source="DOID:305/inferred", source="EFO:0000313", source="MONDO:Redundant"} ! cancer relationship: EFO:0000784 CL:0000066 ! has_disease_location epithelial cell property_value: closeMatch http://identifiers.org/snomedct/134207000 property_value: closeMatch http://identifiers.org/snomedct/154433003 property_value: closeMatch http://identifiers.org/snomedct/188083002 property_value: closeMatch http://identifiers.org/snomedct/189546004 property_value: closeMatch http://identifiers.org/snomedct/189549006 property_value: closeMatch http://identifiers.org/snomedct/189559007 property_value: closeMatch http://identifiers.org/snomedct/269513004 property_value: closeMatch http://identifiers.org/snomedct/68453008 property_value: closeMatch http://identifiers.org/snomedct/71298006 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0553707 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1368683 property_value: exactMatch DOID:305 property_value: exactMatch DOID:305 property_value: exactMatch http://identifiers.org/mesh/D002277 property_value: exactMatch http://identifiers.org/mesh/D002277 property_value: exactMatch http://identifiers.org/snomedct/722688002 property_value: exactMatch http://identifiers.org/snomedct/722688002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007097 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007097 property_value: exactMatch NCIT:C2916 property_value: exactMatch NCIT:C2916 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0000315 name: cardiac mesoderm primordium synonym: "cardiac mesoderm" EXACT [] synonym: "cardiogenic mesoderm" EXACT [] synonym: "CardMes" EXACT [] synonym: "CardMesP2" EXACT [] synonym: "P2 CardMes" EXACT [] xref: FBbt:00005541 xref: SNOMEDCT:360387000 is_a: UBERON:0000926 ! mesoderm property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000317 name: obsolete_cardiac ventricle def: "A chamber of the heart which receives blood from a corresponding atrium and from which blood is forced into the arteries." [] def: "Cavitated compound organ that receives blood flow from the atrium and delivers blood to the body via the aorta. Valves are present to direct flow. There are only two chambers present in the fish heart." [] def: "General anatomical term which refers to a chamber of an organ with cavitated organ parts. Examples: right ventricle of heart, lateral ventricle of brain." [] def: "One of four heart chambers." [] def: "The lower right and left chambers of the heart. The right pumps venous blood into the lungs and the left pumps oxygenated blood into the systemic arterial circulation. (MeSH)" [] synonym: "Cardiac Ventricles" EXACT [] synonym: "heart ventricle" EXACT [] synonym: "ventricle" EXACT [] synonym: "Ventricles, Heart" EXACT [] xref: BTO:0000862 xref: EHDAA:1900 xref: EMAPA:17331 xref: EV:0100020 xref: FMA:82553 xref: MA:0000091 xref: MAT:0000497 xref: MFO:0080920 xref: NCIt:C12730 xref: TAO:0000009 xref: ZFA:0000009 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002082\nLabel: cardiac ventricle" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002082 [Term] id: EFO:0000318 name: cardiomyopathy def: "A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive." [NCIT:C34830] def: "A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:167848"} synonym: "[X]Cardiomyopathy in other diseases classified elsewhere" EXACT [] synonym: "[X]Cardiomyopathy in other diseases classified elsewhere (disorder)" EXACT [] synonym: "CARDIOMYOPATH IN OTH DIS" EXACT [] synonym: "Cardiomyopathies" EXACT [DOID:0050700, MESH:D009202] synonym: "CARDIOMYOPATHIES SECOND" EXACT [] synonym: "Cardiomyopathies, Primary" EXACT [] synonym: "Cardiomyopathies, Secondary" EXACT [] synonym: "cardiomyopathy" EXACT [] {comment="preferred label from MONDO"} synonym: "cardiomyopathy" EXACT [MONDO:0015670] synonym: "Cardiomyopathy (disorder)" EXACT [] synonym: "Cardiomyopathy in other diseases classified elsewhere" EXACT [] synonym: "Cardiomyopathy NOS" EXACT [] synonym: "Cardiomyopathy NOS (disorder)" EXACT [] synonym: "Cardiomyopathy, NOS" EXACT [] synonym: "Cardiomyopathy, Primary" EXACT [] synonym: "Cardiomyopathy, Secondary" EXACT [] synonym: "Other primary cardiomyopathies" EXACT [] synonym: "Other primary cardiomyopathies (disorder)" EXACT [] synonym: "Other primary cardiomyopathy NOS" EXACT [] synonym: "Other primary cardiomyopathy NOS (disorder)" EXACT [] synonym: "PRIM CARDIOMYOPATHY NEC" EXACT [] synonym: "Primary Cardiomyopathies" EXACT [] synonym: "Primary Cardiomyopathy" EXACT [] synonym: "Secondary Cardiomyopathies" EXACT [] synonym: "Secondary Cardiomyopathy" EXACT [] xref: DOID:0050700 {source="MONDO:equivalentTo", source="EFO:0000318"} xref: ICD10:I42 xref: ICD10CM:I42 {source="DOID:0050700", source="MONDO:equivalentTo"} xref: ICD9:425 {source="DOID:0050700", source="EFO:0000318"} xref: ICD9:425.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:425.9 {source="DOID:0050700"} xref: MedDRA:10007636 {source="Orphanet:167848/e", source="Orphanet:167848"} xref: MESH:D009202 {source="Orphanet:167848/e", source="DOID:0050700", source="MONDO:equivalentTo", source="EFO:0000318", source="Orphanet:167848"} xref: MeSH:D009202 xref: MONDO:0004994 xref: NCIT:C34830 {source="DOID:0050700", source="MONDO:equivalentTo", source="EFO:0000318"} xref: NCIt:C34830 xref: Orphanet:167848 {source="MONDO:equivalentTo"} xref: SCTID:57809008 {source="MONDO:relatedTo", source="DOID:0050700"} xref: SCTID:85898001 {source="DOID:0050700", source="MONDO:equivalentTo", source="EFO:0000318"} xref: SNOMEDCT:85898001 xref: UMLS:C0878544 {source="Orphanet:167848/e", source="DOID:0050700", source="MONDO:equivalentTo", source="NCIT:C34830", source="Orphanet:167848"} is_a: EFO:0003777 {source="Orphanet:167848"} ! heart disease is_a: MONDO:0003939 ! muscle tissue disorder relationship: EFO:0000784 UBERON:0002349 ! has_disease_location myocardium relationship: has_characteristic MONDO:0021136 {source="MONDO:0019996"} ! rare property_value: closeMatch http://identifiers.org/meddra/10007636 property_value: exactMatch DOID:0050700 property_value: exactMatch http://identifiers.org/mesh/D009202 property_value: exactMatch http://identifiers.org/snomedct/85898001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0878544 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/I42 property_value: exactMatch NCIT:C34830 property_value: exactMatch Orphanet:167848 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000319 name: cardiovascular disease def: "A body system disease which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis." [] def: "A disease involving the cardiovascular system." [https://orcid.org/0000-0002-6601-2165] def: "A non-neoplastic or neoplastic disorder affecting the heart or the vessels (arteries, veins and lymph vessels). Representative examples of non-neoplastic cardiovascular disorders are endocarditis and hypertension. Representative examples of neoplastic cardiovascular disorders are endocardial myxoma and angiosarcoma. -- 2003" [] def: "A non-neoplastic or neoplastic disorder affecting the heart or the vessels (arteries, veins and lymph vessels). Representative examples of non-neoplastic cardiovascular disorders are endocarditis and hypertension. Representative examples of neoplastic cardiovascular disorders are endocardial myxoma and angiosarcoma." [] def: "Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." [] subset: rare_grouping synonym: "[X]Cardiovascular disease, unspecified" EXACT [] synonym: "[X]Cardiovascular disease, unspecified (disorder)" EXACT [] synonym: "[X]Other forms of heart disease" EXACT [] synonym: "[X]Other forms of heart disease (disorder)" EXACT [] synonym: "[X]Other ill-defined heart diseases" EXACT [] synonym: "[X]Other ill-defined heart diseases (disorder)" EXACT [] synonym: "[X]Other specified diseases of pericardium" EXACT [] synonym: "[X]Other specified diseases of pericardium (disorder)" EXACT [] synonym: "ASCVD" EXACT [] synonym: "CARDIOVASC DIS" EXACT [] synonym: "cardiovascular disease" EXACT [DOID:1287, NCIT:C2931] synonym: "Cardiovascular Disease (CVD)" EXACT [] synonym: "cardiovascular disease (CVD)" EXACT [NCIT:C2931] synonym: "Cardiovascular disease, NOS" EXACT [] synonym: "Cardiovascular disease, unspecified" EXACT [] synonym: "Cardiovascular Diseases" EXACT [] synonym: "Cardiovascular Disorder" EXACT [] synonym: "cardiovascular disorder" EXACT [NCIT:C2931] synonym: "cardiovascular disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "Cardiovascular disorder, NOS" EXACT [] synonym: "Cardiovascular Disorders" EXACT [] synonym: "Cardiovascular system disease" EXACT [] synonym: "cardiovascular system disease" EXACT [MONDO:patterns/location] synonym: "cardiovascular system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "Certain sequelae of myocardial infarction, not elsewhere classified" EXACT [] synonym: "CIRCULATORY DISEASE NOS" EXACT [] synonym: "circulatory system disease" EXACT [] synonym: "circulatory system disease" RELATED [MONDO:cjm] synonym: "Circulatory system disease NOS" EXACT [] synonym: "Circulatory system disease NOS (disorder)" EXACT [] synonym: "CVD" EXACT [] synonym: "CVD, NOS" EXACT [] synonym: "CVS disease" EXACT [] synonym: "Disease affecting entire cardiovascular system" EXACT [] synonym: "Disease affecting entire cardiovascular system (disorder)" EXACT [] synonym: "Disease of cardiovascular system" EXACT [] synonym: "disease of cardiovascular system" EXACT [MONDO:patterns/location_top] synonym: "Disease of cardiovascular system (disorder)" EXACT [] synonym: "Disease of cardiovascular system, NOS" EXACT [] synonym: "disease of subdivision of hemolymphoid system" EXACT [DOID:1287] synonym: "disease or disorder of cardiovascular system" EXACT [] synonym: "Disease, Cardiovascular" EXACT [] synonym: "DISEASES OF THE CIRCULATORY SYSTEM" EXACT [] synonym: "Diseases, Cardiovascular" EXACT [] synonym: "Disorder of cardiovascular system" EXACT [] synonym: "disorder of cardiovascular system" EXACT [MONDO:patterns/location_top, NCIT:C2931] synonym: "Disorder of cardiovascular system (disorder)" EXACT [] synonym: "Disorder of circulatory system" EXACT [] synonym: "Disorder of circulatory system, NOS" EXACT [] synonym: "Disorder of the circulatory system" EXACT [] synonym: "Ill-defined descriptions and complications of heart disease" EXACT [] synonym: "ILL-DEFINED HRT DIS NEC" EXACT [] synonym: "Other diseases of endocardium" EXACT [] synonym: "Other diseases of endocardium (disorder)" EXACT [] synonym: "Other diseases of pericardium" EXACT [] synonym: "Other diseases of pericardium (disorder)" EXACT [] synonym: "Other disorders of papillary muscle" EXACT [] synonym: "Other forms of heart disease" EXACT [] synonym: "Other forms of heart disease (disorder)" EXACT [] synonym: "Other heart disease" EXACT [] synonym: "Other heart disease (disorder)" EXACT [] synonym: "Other heart disease NOS" EXACT [] synonym: "Other heart disease NOS (disorder)" EXACT [] synonym: "Other ill-defined heart disease" EXACT [] synonym: "Other ill-defined heart disease (disorder)" EXACT [] synonym: "Other ill-defined heart disease NOS" EXACT [] synonym: "Other ill-defined heart disease NOS (disorder)" EXACT [] synonym: "Other ill-defined heart diseases" EXACT [] synonym: "Other pericardial disease NOS" EXACT [] synonym: "Other pericardial disease NOS (disorder)" EXACT [] synonym: "OTHER SEQUELAE OF MI NEC" EXACT [] synonym: "Other sequelae of myocardial infarction, not elsewhere classified" EXACT [] synonym: "Other specified diseases of pericardium" EXACT [] synonym: "Other specified pericardial disease NOS" EXACT [] synonym: "Other specified pericardial disease NOS (disorder)" EXACT [] synonym: "PAPILLARY MUSCLE DIS NEC" EXACT [] synonym: "PERICARDIAL DISEASE NEC" EXACT [] synonym: "Unspecified circulatory system disorder" EXACT [] xref: DOID:1287 {source="MONDO:equivalentTo", source="EFO:0000319"} xref: ICD10:I98 xref: ICD10:I99 xref: ICD9:390-459.99 {source="EFO:0000319"} xref: ICD9:420-429.99 {source="EFO:0000319"} xref: ICD9:423 {source="EFO:0000319"} xref: ICD9:423.8 {source="EFO:0000319"} xref: ICD9:424 {source="EFO:0000319"} xref: ICD9:429 {source="EFO:0000319"} xref: ICD9:429.2 {source="DOID:1287", source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0000319"} xref: ICD9:429.7 {source="EFO:0000319"} xref: ICD9:429.8 {source="EFO:0000319"} xref: ICD9:429.81 {source="EFO:0000319"} xref: ICD9:429.89 {source="EFO:0000319"} xref: ICD9:459.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:459.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0000319"} xref: MedDRA:10007648 xref: MESH:D002318 {source="DOID:1287", source="MONDO:equivalentTo", source="EFO:0000319"} xref: MeSH:D002318 xref: MONDO:0004995 xref: NCIT:C2931 {source="DOID:1287", source="MONDO:equivalentTo", source="EFO:0000319"} xref: NCIt:C2931 xref: SCTID:49601007 {source="DOID:1287", source="MONDO:equivalentTo", source="EFO:0000319"} xref: SNOMEDCT:105980002 xref: SNOMEDCT:49601007 xref: UMLS:C0007222 {source="DOID:1287", source="MONDO:equivalentTo", source="NCIT:C2931"} is_a: EFO:0000408 ! disease disjoint_from: EFO:0001460 ! uninfected property_value: exactMatch DOID:1287 property_value: exactMatch http://identifiers.org/mesh/D002318 property_value: exactMatch http://identifiers.org/snomedct/49601007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007222 property_value: exactMatch NCIT:C2931 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000321 name: obsolete_cell factor property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.8" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "class no longer needed for organizational purposes. Also hard to decide what an instance of a cell factor is." xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000322 name: obsolete_cell line property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.96" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Undoing of CL term obsolescence from version 2.15." xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/CL_0000010 [Term] id: EFO:0000323 name: cell property def: "An attribute of a cell e.g. CD8+" [] xref: BTO:0002322 is_a: BFO:0000019 ! quality property_value: IAO:0000112 "CD8+" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000324 name: cell type def: "A cell type is a distinct morphological or functional form of cell. Examples are epithelial, glial etc." [] synonym: "cell_type" EXACT [] xref: MO:548 is_a: BFO:0000040 ! material entity property_value: branch:class "true" xsd:string property_value: IAO:0000112 "epithelial, glial." xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000325 name: cellular modification def: "The act of alteration or modification of a cell e.g. RNAi" [] is_a: EFO:0002694 ! experimental process property_value: IAO:0000112 "RNAi" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000326 name: central nervous system cancer def: "A malignant neoplasm involving the central nervous system" [https://orcid.org/0000-0002-6601-2165] def: "A malignant neoplasm involving the central nervous system" [MONDO:DesignPattern] synonym: "cancer of central nervous system" EXACT [MONDO:patterns/cancer, NCIT:C4627] synonym: "cancer of CNS" EXACT [NCIT:C4627] synonym: "cancer of the central nervous system" EXACT [NCIT:C4627] synonym: "cancer of the CNS" EXACT [NCIT:C4627] synonym: "central nervous system cancer" EXACT [] {comment="preferred label from MONDO"} synonym: "central nervous system cancer" EXACT [MONDO:patterns/location, NCIT:C4627] synonym: "central nervous system cancer" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "central nervous system neoplasms, malignant" EXACT [NCIT:C4627] synonym: "central nervous system tumor" BROAD [DOID:3620] synonym: "central nervous system tumor" EXACT [DOID:3620] synonym: "central nervous system tumors" EXACT [DOID:3620, NCIT:C9293] synonym: "central nervous system tumors" EXACT [DOID:3620] synonym: "central nervous system tumour" BROAD OMO:0003005 [] synonym: "central nervous system tumours" EXACT OMO:0003005 [] synonym: "CNS cancer" EXACT [NCIT:C4627] synonym: "CNS malignant neoplasms" EXACT [NCIT:C4627] synonym: "CNS neoplasm" BROAD [DOID:3620] synonym: "CNS neoplasm" EXACT [CSP2005:2012-5421, DOID:3620] synonym: "CNS neoplasms, malignant" EXACT [NCIT:C4627] synonym: "malignant central nervous system neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4627] synonym: "malignant central nervous system tumor" EXACT [NCIT:C4627] synonym: "malignant central nervous system tumour" EXACT OMO:0003005 [] synonym: "malignant CNS neoplasm" EXACT [NCIT:C4627] synonym: "malignant CNS neoplasms" EXACT [NCIT:C4627] synonym: "malignant CNS tumor" EXACT [NCIT:C4627] synonym: "malignant CNS tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of central nervous system" EXACT [MONDO:patterns/cancer, NCIT:C4627] synonym: "malignant neoplasm of CNS" EXACT [NCIT:C4627] synonym: "malignant neoplasm of the central nervous system" EXACT [NCIT:C4627] synonym: "malignant neoplasm of the CNS" EXACT [NCIT:C4627] synonym: "malignant tumor of central nervous system" EXACT [NCIT:C4627] synonym: "malignant tumor of CNS" EXACT [DOID:3620, NCIT:C4627] synonym: "malignant tumor of the central nervous system" EXACT [NCIT:C4627] synonym: "malignant tumor of the CNS" EXACT [NCIT:C4627] synonym: "malignant tumour of central nervous system" EXACT OMO:0003005 [] synonym: "malignant tumour of CNS" EXACT OMO:0003005 [] synonym: "malignant tumour of the central nervous system" EXACT OMO:0003005 [] synonym: "malignant tumour of the CNS" EXACT OMO:0003005 [] xref: DOID:3620 {source="MONDO:equivalentTo"} xref: EFO:0000326 {source="DOID:3620", source="MONDO:equivalentTo"} xref: ICD10:C72.9 {source="DOID:3620"} xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:239.7 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D016543 {source="DOID:3620", source="MONDO:equivalentTo"} xref: MONDO:0002714 xref: NCIT:C4627 {source="DOID:3620", source="MONDO:equivalentTo"} xref: NCIT:C9293 {source="MONDO:relatedTo", source="DOID:3620"} xref: OMIM:616568 xref: SCTID:126951006 {source="DOID:3620", source="MONDO:equivalentTo"} is_a: EFO:0007392 {source="DOID:3620", source="MESH:D016543", source="MONDO:Redundant", source="NCIT:C4627"} ! nervous system cancer is_a: EFO:1000158 ! Central Nervous System Neoplasm property_value: closeMatch http://identifiers.org/snomedct/190135002 property_value: closeMatch http://identifiers.org/snomedct/372062007 property_value: closeMatch http://identifiers.org/snomedct/93744007 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0085136 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0348374 property_value: exactMatch DOID:3620 property_value: exactMatch DOID:3620 property_value: exactMatch http://identifiers.org/mesh/D016543 property_value: exactMatch http://identifiers.org/mesh/D016543 property_value: exactMatch http://identifiers.org/snomedct/126951006 property_value: exactMatch http://identifiers.org/snomedct/126951006 property_value: exactMatch NCIT:C4627 property_value: exactMatch NCIT:C4627 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/cancer.yaml [Term] id: EFO:0000327 name: obsolete_cerebellum def: "A large dorsally projecting part of the brain concerned especially with the coordination of muscles and the maintenance of bodily equilibrium, situated between the brain stem and the back of the cerebrum , and formed in humans of two lateral lobes and a median lobe." [] def: "The portion of the brain located at the base of the skull that is responsible for balance, equilibrium and movement." [] synonym: "Cerebellar" EXACT [] xref: BTO:0000232 xref: NCIt:C12445 xref: NIFSTD:birnlex_1489 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002037\nlabel: cerebellum" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002037 [Term] id: EFO:0000328 name: obsolete_cerebral cortex def: "Superficial layer of the brain, composed of glia and the cell bodies of neurons (soma)." [] def: "The surface layer of gray matter of the cerebrum that functions chiefly in coordination of sensory and motor information." [] synonym: "adult brain cortex" EXACT [] synonym: "brain cortex" EXACT [] synonym: "cortex of cerebral hemisphere" EXACT [] synonym: "Cortex of cerebrum" EXACT [] synonym: "pallium of the brain" EXACT [] synonym: "perikaryal rind" EXACT [] xref: BTO:0000233 xref: EHDAA:5464 xref: EMAPA:17544 xref: EV:0100166 xref: FBbt:00003625 xref: FMA:61830 xref: MA:0000185 xref: MAT:0000108 xref: SAEL:20 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000956\nlabel: cerebral cortex" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000956 [Term] id: EFO:0000329 name: obsolete_cerebrospinal fluid def: "The fluid that is contained within the brain ventricles, the subarachnoid space and the central canal of the spinal cord." [] def: "The serumlike fluid that circulates through the ventricles of the brain, the cavity of the spinal cord, and the subarachnoid space, functioning in shock absorption." [] synonym: "Cerebral Spinal Fluid" EXACT [] synonym: "CSF" EXACT [] synonym: "spinal fluid" EXACT [] xref: BTO:0000237 xref: NCIt:C12692 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001359\nlabel: cerebrospinal fluid" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001359 [Term] id: EFO:0000330 name: childhood acute myeloid leukemia def: "Acute myeloid leukemia occurring in childhood." [NCIT:C9160] synonym: "acute myeloid leukaemia (AML)" BROAD OMO:0003005 [] synonym: "acute myeloid leukaemia of childhood" EXACT OMO:0003005 [] synonym: "acute myeloid leukemia (AML)" BROAD [NCIT:C9160] synonym: "acute myeloid leukemia (AML)" EXACT [NCIT:C9160] synonym: "acute myeloid leukemia of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "childhood acute granulocytic leukaemia" EXACT OMO:0003005 [] synonym: "childhood acute granulocytic leukemia" EXACT [NCIT:C9160] synonym: "childhood acute myeloblastic leukaemia" EXACT OMO:0003005 [] synonym: "childhood acute myeloblastic leukemia" EXACT [NCIT:C9160] synonym: "childhood acute myelocytic leukaemia" EXACT OMO:0003005 [] synonym: "childhood acute myelocytic leukemia" EXACT [NCIT:C9160] synonym: "childhood acute myelogenous leukaemia" EXACT OMO:0003005 [] synonym: "childhood acute myelogenous leukemia" EXACT [NCIT:C9160] synonym: "childhood acute myeloid leukaemia" EXACT [DOID:0070323] synonym: "childhood acute myeloid leukemia" EXACT [] {comment="preferred label from MONDO"} synonym: "childhood acute myeloid leukemia" EXACT [NCIT:C9160] synonym: "childhood acute myeloid leukemia" EXACT [DOID:0070323, NCIT:C9160] synonym: "childhood acute myeloid leukemia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "childhood AML" EXACT [NCIT:C9160] synonym: "paediatric acute myeloblastic leukaemia" EXACT OMO:0003005 [] synonym: "paediatric acute myelocytic leukaemia" EXACT OMO:0003005 [] synonym: "paediatric acute myelogenous leukaemia" EXACT OMO:0003005 [] synonym: "paediatric acute myeloid leukaemia" EXACT OMO:0003005 [] synonym: "paediatric acute myeloid leukaemia" EXACT [DOID:0070323] synonym: "paediatric AML" EXACT OMO:0003005 [] synonym: "pediatric acute myeloblastic leukemia" EXACT [NCIT:C9160] synonym: "pediatric acute myelocytic leukemia" EXACT [NCIT:C9160] synonym: "pediatric acute myelogenous leukemia" EXACT [NCIT:C9160] synonym: "pediatric acute myeloid leukemia" EXACT [DOID:0070323, MONDO:patterns/childhood, NCIT:C9160] synonym: "pediatric AML" EXACT [NCIT:C9160] xref: DOID:0070323 {source="MONDO:equivalentTo"} xref: EFO:0000330 {source="MONDO:equivalentTo"} xref: ICDO:M9861/3 {source="DOID:0070323"} xref: MONDO:0004996 xref: NCIT:C9160 {source="EFO:0000330", source="MONDO:equivalentTo", source="DOID:0070323"} xref: UMLS:C0220621 {source="MONDO:equivalentTo", source="NCIT:C9160"} is_a: EFO:0000222 ! acute myeloid leukemia is_a: MONDO:0004355 {source="DOID:0070323", source="MONDO:Redundant", source="NCIT:C9160"} ! childhood leukemia property_value: exactMatch DOID:0070323 property_value: exactMatch DOID:0070323 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220621 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220621 property_value: exactMatch NCIT:C9160 property_value: exactMatch NCIT:C9160 property_value: excluded_subClassOf MONDO:0011118 {source="EFO:0000330"} property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/childhood.yaml [Term] id: EFO:0000331 name: chondroblastoma def: "A benign, chondroid-producing, well-circumscribed, lytic neoplasm usually arising from the epiphysis of long bones. It is characterized by the presence of chondroblasts, osteoclast-like giant cells, chondroid formation, calcification, and mitotic activity. In aggressive cases, there is rearrangement of the 8q21 chromosome band. It occurs most frequently in children and young adults and rarely metastasizes." [NCIT:P378] synonym: "CHBL" RELATED ABBREVIATION [ONCOTREE:CHBL] synonym: "chondroblastoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "chondroblastoma" EXACT [] {comment="preferred label from MONDO"} synonym: "chondroblastoma" EXACT [MONDO:ambiguous, NCIT:C2945] synonym: "chondroblastoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "chondroblastoma of bone" EXACT [DOID:2649] xref: DOID:2649 {source="EFO:0000331", source="MONDO:equivalentTo"} xref: EFO:0000331 {source="MONDO:equivalentTo"} xref: GARD:0006047 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: HP:0030432 {source="MONDO:otherHierarchy"} xref: ICDO:9230/0 {source="NCIT:C2945"} xref: MESH:D002804 {source="EFO:0000331", source="MONDO:equivalentTo", source="DOID:2649"} xref: MONDO:0004997 xref: NCIT:C2945 {source="EFO:0000331", source="MONDO:equivalentTo", source="DOID:2649"} xref: ONCOTREE:CHBL {source="MONDO:equivalentTo"} xref: UMLS:C0008441 {source="NCIT:C2945", source="MONDO:equivalentTo", source="DOID:2649"} is_a: MONDO:0000631 {source="NCIT:C2945"} ! bone benign neoplasm is_a: MONDO:0024470 {source="NCIT:C2945"} ! benign chondrogenic neoplasm relationship: EFO:0000784 UBERON:0001474 ! has_disease_location bone element property_value: closeMatch http://identifiers.org/snomedct/134337007 property_value: closeMatch http://identifiers.org/snomedct/189887007 property_value: closeMatch http://identifiers.org/snomedct/9001003 property_value: exactMatch DOID:2649 property_value: exactMatch DOID:2649 property_value: exactMatch http://identifiers.org/mesh/D002804 property_value: exactMatch http://identifiers.org/mesh/D002804 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008441 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008441 property_value: exactMatch NCIT:C2945 property_value: exactMatch NCIT:C2945 property_value: IAO:0000589 "chondroblastoma (disease)" xsd:string [Term] id: EFO:0000332 name: chondromyxoid fibroma def: "An uncommon benign cartilaginous neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain." [NCIT:C3830] subset: ordo_disease {source="Orphanet:404507"} synonym: "Chondromyxoid fibroma" EXACT [NCIT:C3830] synonym: "chondromyxoid fibroma" EXACT [] {comment="preferred label from MONDO"} synonym: "chondromyxoid fibroma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:0000332 {source="MONDO:equivalentTo"} xref: ICD10:D16.9 {source="ORDO:404507/ntbt", source="Orphanet:404507"} xref: ICDO:9241/0 {source="NCIT:C3830"} xref: MONDO:0018447 xref: NCIT:C3830 {source="EFO:0000332", source="MONDO:equivalentTo"} xref: Orphanet:404507 {source="MONDO:equivalentTo"} xref: UMLS:C0221290 {source="MONDO:equivalentTo", source="Orphanet:404507", source="NCIT:C3830"} is_a: MONDO:0000631 {source="MONDO:Redundant", source="NCIT:C3830"} ! bone benign neoplasm is_a: MONDO:0024470 {source="NCIT:C3830"} ! benign chondrogenic neoplasm relationship: EFO:0000784 UBERON:0001474 ! has_disease_location bone element property_value: closeMatch http://identifiers.org/snomedct/39553005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221290 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221290 property_value: exactMatch NCIT:C3830 property_value: exactMatch NCIT:C3830 property_value: exactMatch Orphanet:404507 [Term] id: EFO:0000333 name: chondrosarcoma def: "A malignant cartilaginous matrix-producing mesenchymal neoplasm arising from the bone and soft tissue. It usually affects middle-aged to elderly adults. The pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion." [NCIT:C2946] subset: ordo_disease {source="Orphanet:55880"} synonym: "chondrosarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "chondrosarcoma" EXACT [MONDO:ambiguous, NCIT:C2946, OMIM:215300] synonym: "chondrosarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "chondrosarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "chondrosarcoma of bone" NARROW [DOID:3371] synonym: "chondrosarcoma, malignant" EXACT [NCIT:C2946] synonym: "chondrosarcoma, somatic mutation" EXACT [OMIM:215300, OMIM:genemap2] synonym: "primary chondrosarcoma of the bone" RELATED [DOID:3371] xref: DOID:3371 {source="MONDO:equivalentTo", source="EFO:0000333"} xref: EFO:0000333 {source="MONDO:equivalentTo"} xref: GARD:0006055 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: HP:0006765 {source="MONDO:otherHierarchy"} xref: ICD10:C49.9 {source="ORDO:55880/ntbt", source="Orphanet:55880"} xref: ICD9:170.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:170.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9220/3 {source="NCIT:C2946"} xref: MedDRA:10008734 {source="Orphanet:55880/e", source="Orphanet:55880"} xref: MedDRA:10008734 {source="ORDO:55880/e", source="Orphanet:55880"} xref: MESH:D002813 {source="Orphanet:55880/e", source="MONDO:equivalentTo", source="EFO:0000333", source="DOID:3371", source="Orphanet:55880"} xref: MESH:D002813 {source="MONDO:equivalentTo", source="EFO:0000333", source="ORDO:55880/e", source="DOID:3371", source="Orphanet:55880"} xref: MONDO:0008977 xref: NCIT:C2946 {source="MONDO:equivalentTo", source="EFO:0000333", source="DOID:3371"} xref: OMIM:215300 {source="Orphanet:55880/e", source="MONDO:equivalentTo", source="EFO:0000333", source="DOID:3371", source="Orphanet:55880"} xref: OMIM:215300 {source="MONDO:equivalentTo", source="EFO:0000333", source="ORDO:55880/e", source="DOID:3371", source="Orphanet:55880"} xref: ONCOTREE:CHS {source="MONDO:equivalentTo"} xref: Orphanet:55880 {source="OMIM:215300", source="MONDO:equivalentTo"} xref: SCTID:443520009 {source="MONDO:equivalentTo", source="EFO:0000333", source="DOID:3371"} xref: UMLS:C0008479 {source="NCIT:C2946", source="Orphanet:55880/e", source="OMIM:215300", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:3371", source="Orphanet:55880"} xref: UMLS:C0008479 {source="NCIT:C2946", source="NCBI:mim2gene_medline", source="OMIM:215300", source="MONDO:equivalentTo", source="ORDO:55880/e", source="DOID:3371", source="Orphanet:55880"} is_a: EFO:0000691 {source="EFO:0000333", source="MESH:D002813", source="MONDO:Redundant", source="NCIT:C2946"} ! sarcoma is_a: EFO:0004260 ! bone disease is_a: MONDO:0021581 {source="MESH:D002813", source="MONDO:indirect"} ! connective tissue neoplasm relationship: EFO:0000784 UBERON:0001474 ! has_disease_location bone element property_value: closeMatch http://identifiers.org/meddra/10008734 property_value: closeMatch http://identifiers.org/snomedct/14990007 property_value: closeMatch http://identifiers.org/snomedct/189886003 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1335473 property_value: exactMatch DOID:3371 property_value: exactMatch DOID:3371 property_value: exactMatch http://identifiers.org/meddra/10008734 property_value: exactMatch http://identifiers.org/mesh/D002813 property_value: exactMatch http://identifiers.org/mesh/D002813 property_value: exactMatch http://identifiers.org/omim/215300 property_value: exactMatch http://identifiers.org/snomedct/443520009 property_value: exactMatch http://identifiers.org/snomedct/443520009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008479 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008479 property_value: exactMatch https://omim.org/entry/215300 property_value: exactMatch NCIT:C2946 property_value: exactMatch NCIT:C2946 property_value: exactMatch Orphanet:55880 property_value: excluded_subClassOf MONDO:0021054 {source="Orphanet:55880"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000589 "chondrosarcoma (disease)" xsd:string [Term] id: EFO:0000334 name: obsolete_chordoma def: "A malignant bone tumor arising from the remnants of the fetal notochord. Although it can occur at all ages, it is more frequently seen in middle-aged adults. Most frequent sites of involvement are: sacrococcygeal area, spheno-occipital area, and the cervico-thoraco-lumbar spine. Microscopically, chordomas are composed of cells that form cords and lobules, separated by mucoid intercellular tissue. Some of the cells are large (physaliphorous) and have vacuolated cytoplasm and prominent vesicular nuclei. Other tumor cells are small with small nuclei without visible nucleoli. Chordomas tend to recur and may metastasize. The most common sites of metastasis are skin and bone." [] def: "A malignant tumor arising from the embryonic remains of the notochord. It is also called chordocarcinoma, chordoepithelioma, and notochordoma. (Dorland, 27th ed)" [] def: "A notochordal cancer that derives_from cellular remnants of the notochord." [] synonym: "Chordoma (morphologic abnormality)" EXACT [] synonym: "Chordomas" EXACT [] synonym: "notochordoma" EXACT [] xref: DOID:3302 xref: MeSH:D002817 xref: NCIt:C2947 xref: SNOMEDCT:50007008 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_178' instead.\nNew Label : Chordoma" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_178 [Term] id: EFO:0000335 name: chromophobe renal cell carcinoma def: "Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg DubC) syndrome, have been described." [Orphanet:319303] subset: gard_rare {source="GARD:0006064"} subset: ordo_disease {source="Orphanet:319303"} synonym: "CHRCC" RELATED ABBREVIATION [ONCOTREE:CHRCC] synonym: "ChRCC" RELATED [GARD:0006064] synonym: "chromophobe adenocarcinoma" EXACT [DOID:4471, NCIT:C4146] synonym: "chromophobe carcinoma" EXACT [NCIT:C4146] synonym: "chromophobe carcinoma of kidney" EXACT [DOID:4471, NCIT:C4146] synonym: "chromophobe carcinoma of the kidney" EXACT [NCIT:C4146] synonym: "chromophobe cell carcinoma of kidney" EXACT [NCIT:C4146] synonym: "chromophobe cell carcinoma of the kidney" EXACT [NCIT:C4146] synonym: "chromophobe renal cell adenocarcinoma" EXACT [Orphanet:319303] synonym: "chromophobe renal cell cancer" EXACT [NCIT:C4146] synonym: "chromophobe renal cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "chromophobe renal cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "chromophobe renal cell carcinoma" EXACT [NCIT:C4146] synonym: "CRCC" RELATED ABBREVIATION [GARD:0006064] synonym: "kidney chromophobe" EXACT [DOID:4471] synonym: "renal cell carcinoma, chromophobe cell" EXACT [DOID:4471] synonym: "renal cell carcinoma, chromophobe type" EXACT [NCIT:C4146] xref: DOID:4471 {source="MONDO:equivalentTo", source="EFO:0000335"} xref: EFO:0000335 {source="MONDO:equivalentTo"} xref: GARD:0006064 {source="MONDO:equivalentTo"} xref: ICD10:C64 {source="Orphanet:319303", source="ORDO:319303/ntbt"} xref: ICDO:8270/3 {source="NCIT:C4146"} xref: ICDO:8317/3 {source="NCIT:C4146"} xref: MONDO:0017885 xref: NCIT:C4146 {source="MONDO:equivalentTo", source="EFO:0000335", source="DOID:4471", source="exact-label-match"} xref: NCIT:C4146 {source="MONDO:equivalentTo", source="EFO:0000335", source="MONDO:exact-label-match", source="DOID:4471"} xref: ONCOTREE:CHRCC {source="MONDO:equivalentTo"} xref: Orphanet:319303 {source="MONDO:equivalentTo"} xref: SCTID:733471003 {source="MONDO:equivalentTo"} xref: UMLS:C1266042 {source="MONDO:equivalentTo", source="NCIT:C4146", source="DOID:4471", source="Orphanet:319303", source="ORDO:319303/e"} xref: UMLS:C1266042 {source="Orphanet:319303/e", source="MONDO:equivalentTo", source="NCIT:C4146", source="DOID:4471", source="Orphanet:319303"} xref: UMLS:C3887514 {source="MONDO:equivalentTo"} is_a: EFO:0005708 {source="NCIT:C4146"} ! renal cell adenocarcinoma relationship: EFO:0000784 UBERON:0002113 ! has_disease_location kidney property_value: closeMatch http://identifiers.org/snomedct/128667008 property_value: closeMatch http://identifiers.org/snomedct/1443001 property_value: exactMatch DOID:4471 property_value: exactMatch DOID:4471 property_value: exactMatch http://identifiers.org/snomedct/733471003 property_value: exactMatch http://identifiers.org/snomedct/733471003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266042 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266042 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3887514 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3887514 property_value: exactMatch NCIT:C4146 property_value: exactMatch NCIT:C4146 property_value: exactMatch Orphanet:319303 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6064/chromophobe-renal-cell-carcinoma xsd:anyURI {source="GARD:0006064"} [Term] id: EFO:0000336 name: chromosomal aberration def: "An irregularity in the number or structure of chromosomes, usually in the form of a gain (duplication), loss (deletion), exchange (translocation), or alteration in sequence (inversion) of genetic material." [] synonym: "CH" EXACT [] synonym: "ChromosomalAberration" EXACT [] xref: MO:78 is_a: EFO:0000510 ! genetic modification property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string [Term] id: EFO:0000337 name: chronic gastritis def: "A stomach disease that is an inflammation of the lining of the stomach." [] def: "Inflammation of the stomach that is chronic in nature." [NCIT:P378] synonym: "CG - Chronic gastritis" EXACT [] synonym: "chronic gastritis" EXACT [MONDO:ambiguous] synonym: "chronic gastritis" EXACT [] {comment="preferred label from MONDO"} synonym: "chronic gastritis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Chronic gastritis (disorder)" EXACT [] synonym: "Chronic gastritis NOS" EXACT [] synonym: "Chronic gastritis NOS (disorder)" EXACT [] synonym: "Chronic gastritis, NOS" EXACT [] synonym: "Erosive Gastritis" EXACT [] synonym: "Erosive gastropathy (disorder)" EXACT [] synonym: "gastritis" EXACT [] synonym: "gastritis (disease), chronic" EXACT [MONDO:patterns/chronic] synonym: "Gastritis (disorder)" EXACT [] synonym: "Gastritis [Ambiguous]" EXACT [] synonym: "GASTRITIS HEMORRHAGIC" EXACT [] synonym: "Gastritis unspecified (disorder)" EXACT [] synonym: "Hemorrhagic Gastritis" EXACT [] synonym: "Idiopathic erosive/hemorrhagic gastritis (disorder)" EXACT [] synonym: "Other specified gastritis" EXACT [] synonym: "Other specified gastritis (disorder)" EXACT [] synonym: "Other specified gastritis NOS (disorder)" EXACT [] synonym: "Other specified gastritis, without mention of hemorrhage" EXACT [] xref: DOID:4029 xref: HP:0005231 {source="MONDO:otherHierarchy"} xref: ICD9:535.4 {source="EFO:0000337"} xref: ICD9:535.40 {source="EFO:0000337"} xref: ICD9:535.41 {source="EFO:0000337"} xref: MedDRA:10008882 xref: MeSH:D005756 xref: MONDO:0005001 xref: NCIT:C26929 {source="MONDO:equivalentTo", source="EFO:0000337"} xref: NCIt:C26929 xref: SCTID:8493009 {source="MONDO:equivalentTo", source="EFO:0000337"} xref: SNOMEDCT:8493009 xref: UMLS:C0085695 {source="NCIT:C26929", source="MONDO:equivalentTo"} is_a: EFO:0000217 {source="EFO:0000337", source="MONDO:Redundant", source="NCIT:C26929"} ! gastritis is_a: EFO:0009714 ! chronic disease relationship: EFO:0000784 UBERON:0000945 ! has_disease_location stomach relationship: has_modifier HP:0011010 ! Chronic property_value: exactMatch http://identifiers.org/snomedct/8493009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085695 property_value: exactMatch NCIT:C26929 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000589 "chronic gastritis (disease)" xsd:string [Term] id: EFO:0000338 name: obsolete_chronic granulomatous disease def: "A recessive X-linked defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation." [] synonym: "Bridges-Good syndrome" EXACT [] synonym: "CGD" EXACT [] synonym: "CGD - Chronic granulomatous disease" EXACT [] synonym: "Chronic granulomatous disease (disorder)" EXACT [] synonym: "Chronic Granulomatous Diseases" EXACT [] synonym: "chronic granulomatous disorder" EXACT [] synonym: "Congenital dysphagocytosis" EXACT [] synonym: "Congenital dysphagocytosis (disorder)" EXACT [] synonym: "Disease, Chronic Granulomatous" EXACT [] synonym: "Diseases, Chronic Granulomatous" EXACT [] synonym: "GRANULOMATOUS DIS CHRONIC" EXACT [] synonym: "Granulomatous Disease, Chronic" EXACT [] synonym: "Granulomatous Diseases, Chronic" EXACT [] synonym: "Quie syndrome" EXACT [] xref: DOID:3265 xref: MeSH:D006105 xref: NCIt:C26788 xref: SNOMEDCT:191352003 xref: SNOMEDCT:387759001 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_379' instead.\nNew Label : Chronic granulomatous disease" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_379 [Term] id: EFO:0000339 name: chronic myelogenous leukemia def: "A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival." [NCIT:C3174] subset: ordo_disease {source="Orphanet:521"} synonym: "BCR-ABL Positive chronic myelogenous leukaemia" EXACT OMO:0003005 [] synonym: "BCR-ABL Positive chronic myelogenous leukemia" EXACT [NCIT:C3174] synonym: "chronic granulocytic leukaemia" EXACT OMO:0003005 [] synonym: "chronic granulocytic leukemia" EXACT [DOID:8552, NCIT:C3174, Orphanet:521] synonym: "chronic myelocytic leukaemia" EXACT OMO:0003005 [] synonym: "chronic myelocytic leukemia" EXACT [NCIT:C3174] synonym: "chronic myelogenous leukaemia" EXACT OMO:0003005 [] synonym: "chronic myelogenous leukaemia (CML)" EXACT OMO:0003005 [] synonym: "chronic myelogenous leukemia" EXACT [DOID:8552, NCIT:C3174, Orphanet:521] synonym: "chronic myelogenous leukemia (CML)" EXACT [NCIT:C3174] synonym: "chronic myelogenous leukemia, BCR-ABL1 Positive" EXACT [NCIT:C3174] synonym: "chronic myelogenous leukemia, BCR-ABL1 positive" EXACT [] {comment="preferred label from MONDO"} synonym: "chronic myelogenous leukemia, BCR-ABL1 positive" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "chronic myelogenous leukemias" EXACT [NCIT:C3174] synonym: "chronic myeloid leukaemia" EXACT OMO:0003005 [] synonym: "chronic myeloid leukemia" EXACT [DOID:8552, NCIT:C3174] synonym: "CML" EXACT ABBREVIATION [DOID:8552, MONDO:Lexical, NCIT:C3174, OMIM:608232, Orphanet:521] synonym: "CML" EXACT ABBREVIATION [CSP2005:2004-1700, DOID:8552, MONDO:Lexical, NCIT:C3174, OMIM:608232, Orphanet:521] synonym: "CML - chronic myelogenous leukaemia" EXACT OMO:0003005 [] synonym: "CML - chronic myelogenous leukemia" EXACT [DOID:8552, NCIT:C3174] synonym: "hematopoeitic - chronic myelocytic leukaemia (CML)" EXACT OMO:0003005 [] synonym: "hematopoeitic - chronic myelocytic leukemia (CML)" EXACT [NCIT:C3174] synonym: "leukemia, chronic myelogenous" RELATED [OMIM:608232] synonym: "leukemia, chronic myeloid" RELATED [MONDO:Lexical, OMIM:608232] synonym: "leukemia, chronic myeloid, atypical" RELATED [OMIM:608232] synonym: "leukemia, chronic myeloid, Philadelphia chromosome positive, somatic" EXACT [OMIM:608232, OMIM:genemap2] synonym: "leukemia, Philadelphia chromosome-positive, resistant to imatinib, Somatic mutation" EXACT [OMIM:608232, OMIM:genemap2] synonym: "myeloid leukemia, chronic" EXACT [DOID:8552, MONDO:patterns/chronic, MTH:NOCODE] xref: COHD:134603 {source="MONDO:equivalentTo"} xref: DOID:0081088 {source="MONDO:equivalentTo"} xref: DOID:8552 {source="MONDO:equivalentTo", source="EFO:0000339"} xref: EFO:0000339 {source="MONDO:equivalentTo", source="DOID:8552"} xref: GARD:0006105 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: ICD10:C92.1 {source="Orphanet:521", source="ORDO:521/e"} xref: ICD9:205.1 {source="DOID:8552", source="EFO:0000339"} xref: ICDO:9863/3 {source="NCIT:C3174"} xref: ICDO:9875/3 {source="NCIT:C3174"} xref: KEGG:05220 {source="MONDO:relatedTo", source="DOID:8552"} xref: MedDRA:10009013 {source="Orphanet:521", source="ORDO:521/e"} xref: MedDRA:10009013 {source="Orphanet:521", source="Orphanet:521/e"} xref: MONDO:0011996 xref: NCIT:C3174 {source="MONDO:equivalentTo", source="DOID:8552"} xref: NCIT:C3177 {source="EFO:0000339", source="MONDO:directSiblingOf"} xref: OMIM:608232 {source="Orphanet:521", source="MONDO:equivalentTo", source="DOID:8552", source="ORDO:521/e", source="EFO:0000339"} xref: OMIM:608232 {source="Orphanet:521", source="MONDO:equivalentTo", source="Orphanet:521/e", source="DOID:8552", source="EFO:0000339"} xref: ONCOTREE:CML {source="MONDO:equivalentTo"} xref: Orphanet:521 {source="MONDO:equivalentTo", source="OMIM:608232"} xref: UMLS:C0023473 {source="Orphanet:521", source="NCIT:C3174", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608232", source="DOID:8552", source="ORDO:521/e"} xref: UMLS:C0023473 {source="Orphanet:521", source="NCIT:C3174", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:521/e", source="OMIM:608232", source="DOID:8552"} is_a: EFO:0004251 ! myeloproliferative disorder is_a: MONDO:0004643 {source="DOID:8552", source="MONDO:Entailed", source="NCIT:C3174"} ! myeloid leukemia is_a: MONDO:0023603 ! hereditary disorder of connective tissue relationship: EFO:0000784 CL:0000763 ! has_disease_location myeloid cell relationship: has_modifier HP:0011010 ! Chronic property_value: closeMatch http://identifiers.org/meddra/10009013 property_value: closeMatch http://identifiers.org/mesh/D015464 property_value: closeMatch http://identifiers.org/mesh/D015466 property_value: closeMatch http://identifiers.org/snomedct/154592009 property_value: closeMatch http://identifiers.org/snomedct/188735005 property_value: closeMatch http://identifiers.org/snomedct/63364005 property_value: closeMatch http://identifiers.org/snomedct/92817004 property_value: closeMatch http://identifiers.org/snomedct/92818009 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1292772 property_value: exactMatch DOID:0081088 property_value: exactMatch DOID:8552 property_value: exactMatch DOID:8552 property_value: exactMatch http://identifiers.org/meddra/10009013 property_value: exactMatch http://identifiers.org/omim/608232 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023473 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023473 property_value: exactMatch https://omim.org/entry/608232 property_value: exactMatch NCIT:C3174 property_value: exactMatch NCIT:C3174 property_value: exactMatch Orphanet:521 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: EFO:0000340 name: obsolete_chronic myeloid leukemia def: "Clonal hematopoetic disorder caused by an acquired genetic defect in PLURIPOTENT STEM CELLS. It starts in MYELOID CELLS of the bone marrow, invades the blood and then other organs. The condition progresses from a stable, more indolent, chronic phase (LEUKEMIA, MYELOID, CHRONIC PHASE) lasting up to 7 years, to an advanced phase composed of an accelerated phase (LEUKEMIA, MYELOID, ACCELERATED PHASE) and BLAST CRISIS." [] comment: Obsolete: Duplication: use EFO_0000339 instead xref: DOID:8552 xref: ICD9:205.1 xref: MeSH:D015464 property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000341 name: chronic obstructive pulmonary disease def: "A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema." [NCIT:C3199] def: "A disease of chronic diffuse irreversible airflow obstruction. Subcategories of COPD include CHRONIC BRONCHITIS and PULMONARY EMPHYSEMA." [] def: "A group of disorders affecting the bronchi and the lung parenchyma. It is characterized by chronic and irreversible obstruction of the airflow. It includes chronic bronchitis and pulmonary emphysema." [] synonym: "Airflow Obstruction, Chronic" EXACT [] synonym: "Airflow Obstructions, Chronic" EXACT [] synonym: "CAFL - Chronic airflow limitation" EXACT [] synonym: "CAL - Chronic airflow limitation" EXACT [] synonym: "CAO - Chronic airflow obstruction" EXACT [] synonym: "Chronic airflow limitation" EXACT [] synonym: "Chronic Airflow Obstruction" EXACT [] synonym: "Chronic Airflow Obstructions" EXACT [] synonym: "Chronic airway disease" EXACT [] synonym: "Chronic airway obstruction" EXACT [] synonym: "chronic airway obstruction, NEC in ICD9CM_2006" EXACT [] synonym: "chronic airway obstruction, not elsewhere classified" EXACT [] synonym: "Chronic irreversible airway obstruction" EXACT [] synonym: "CHRONIC OBSTRUCTIVE AIRWAY DIS" EXACT [] synonym: "chronic obstructive airway disease" EXACT [DOID:3083] synonym: "Chronic Obstructive Airways Disease" EXACT [] synonym: "chronic obstructive airways disease" EXACT [NCIT:C3199] synonym: "chronic obstructive airways disease NOS" EXACT [] synonym: "chronic obstructive airways disease NOS (disorder)" EXACT [] synonym: "CHRONIC OBSTRUCTIVE LUNG DIS" EXACT [] synonym: "Chronic Obstructive Lung Disease" EXACT [] synonym: "chronic obstructive lung disease" EXACT [DOID:3083] synonym: "chronic obstructive lung disease (disorder)" EXACT [] synonym: "chronic obstructive lung disease [Ambiguous]" EXACT [] synonym: "Chronic obstructive lung disease, NEC" EXACT [] synonym: "Chronic obstructive lung disease, NOS" EXACT [] synonym: "CHRONIC OBSTRUCTIVE PULM DIS" EXACT [] synonym: "chronic obstructive pulmonary disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Chronic Obstructive Pulmonary Disease (COPD)" EXACT [] synonym: "chronic obstructive pulmonary disease (COPD)" EXACT [NCIT:C3199] synonym: "chronic obstructive pulmonary disease and allied conditions" EXACT [] synonym: "Chronic obstructive pulmonary disease finding" EXACT [] synonym: "Chronic obstructive pulmonary disease finding (finding)" EXACT [] synonym: "Chronic obstructive pulmonary disease NOS" EXACT [] synonym: "CHRONIC OBSTRUCTIVE PULMONARY DISEASE, (COPD)" EXACT [] synonym: "chronic obstructive pulmonary disease, (COPD)" EXACT [NCIT:C3199] synonym: "COAD" EXACT [] synonym: "COAD - Chronic obstructive airways disease" EXACT [] synonym: "COLD" EXACT [] synonym: "cold" EXACT [NCIT:C3199] synonym: "COLD (chronic obstructive lung disease)" EXACT [] synonym: "cold (chronic obstructive lung disease)" EXACT [DOID:3083] synonym: "COLD - Chronic obstructive lung disease" EXACT [] synonym: "COPD" EXACT ABBREVIATION [DOID:3083, NCIT:C3199] synonym: "COPD - Chronic obstructive pulmonary disease" EXACT [] synonym: "COPD NOS" EXACT [] synonym: "COPD, CHRONIC OBSTRUCTIVE PULMONARY DISEASE" EXACT [] synonym: "COPD, chronic obstructive pulmonary disease" EXACT [NCIT:C3199] synonym: "DISEASE (COPD), CHRONIC OBSTRUCTIVE" EXACT [] synonym: "disease (COPD), chronic obstructive" EXACT [NCIT:C3199] synonym: "Dops" EXACT [] synonym: "obstructive lung disease, chronic" EXACT [MONDO:patterns/chronic] synonym: "OBSTRUCTIVE PULMONARY DISEASE (COPD), CHRONIC" EXACT [] synonym: "obstructive pulmonary disease (COPD), chronic" EXACT [NCIT:C3199] synonym: "PULM DIS CHRONIC OBSTRUCTIVE" EXACT [] synonym: "PULMONARY DISEASE (COPD), CHRONIC OBSTRUCTIVE" EXACT [] synonym: "pulmonary disease (COPD), chronic obstructive" EXACT [NCIT:C3199] synonym: "Pulmonary Disease, Chronic Obstructive" EXACT [] xref: DOID:3083 {source="EFO:0000341", source="MONDO:equivalentTo"} xref: ICD10:J44 xref: ICD9:490-496.99 {source="EFO:0000341"} xref: ICD9:496 {source="EFO:0000341", source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10009033 xref: MESH:D029424 {source="EFO:0000341", source="MONDO:equivalentTo", source="DOID:3083"} xref: MeSH:D029424 xref: MONDO:0005002 xref: NCIT:C3199 {source="EFO:0000341", source="MONDO:equivalentTo", source="DOID:3083"} xref: NCIt:C3199 xref: OMIM:606963 {source="MONDO:equivalentTo"} xref: SCTID:13645005 {source="EFO:0000341", source="MONDO:equivalentTo", source="DOID:3083"} xref: SNOMEDCT:13645005 xref: SNOMEDCT:413846005 xref: SNOMEDCT:84162001 is_a: EFO:0009910 ! chronic lung disease is_a: MONDO:0002567 ! tracheal disorder relationship: EFO:0000784 UBERON:0002048 ! has_disease_location lung relationship: EFO:0000784 UBERON:0003126 ! has_disease_location trachea relationship: has_modifier HP:0011010 ! Chronic property_value: exactMatch DOID:3083 property_value: exactMatch http://identifiers.org/mesh/D029424 property_value: exactMatch http://identifiers.org/snomedct/13645005 property_value: exactMatch https://omim.org/entry/606963 property_value: exactMatch NCIT:C3199 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000342 name: chronic pancreatitis def: "A chronic inflammatory process causing damage and fibrosis of the pancreatic parenchyma. Signs and symptoms include abdominal pain, malabsorption and diabetes mellitus." [NCIT:P378] def: "INFLAMMATION of the PANCREAS that is characterized by recurring or persistent ABDOMINAL PAIN with or without STEATORRHEA or DIABETES MELLITUS. It is characterized by the irregular destruction of the pancreatic parenchyma which may be focal, segmental, or diffuse." [] synonym: "chronic pancreatitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Chronic pancreatitis (disorder)" EXACT [] synonym: "chronic pancreatitis (disorder) [Ambiguous]" EXACT [] synonym: "CP - Chronic pancreatitis" EXACT [] synonym: "Pancreatitis, Chronic" EXACT [] synonym: "pancreatitis, chronic" EXACT [MONDO:patterns/chronic] synonym: "Pancreatitis, recurrent" EXACT [] synonym: "Recurrent pancreatitis" EXACT [] synonym: "Recurrent pancreatitis (disorder)" EXACT [] synonym: "Relapsing pancreatitis" EXACT [] synonym: "Relapsing pancreatitis (disorder)" EXACT [] xref: ICD9:577.1 {source="EFO:0000342", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10009093 xref: MESH:D050500 {source="EFO:0000342", source="MONDO:equivalentTo"} xref: MeSH:D050500 xref: MONDO:0005003 xref: NCIT:C84637 {source="EFO:0000342", source="MONDO:equivalentTo"} xref: NCIt:C84637 xref: OMIM:167800 xref: OMIM:608189 xref: SCTID:235494005 {source="EFO:0000342", source="MONDO:equivalentTo"} xref: SNOMEDCT:235494005 xref: UMLS:C0149521 {source="NCIT:C84637", source="MONDO:equivalentTo"} is_a: EFO:0000278 {source="EFO:0000342", source="MESH:D050500", source="MONDO:Redundant", source="NCIT:C84637"} ! pancreatitis is_a: EFO:0009714 ! chronic disease relationship: EFO:0000784 UBERON:0001264 ! has_disease_location pancreas relationship: has_modifier HP:0011010 ! Chronic property_value: exactMatch http://identifiers.org/mesh/D050500 property_value: exactMatch http://identifiers.org/snomedct/235494005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149521 property_value: exactMatch NCIT:C84637 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000343 name: obsolete_cingulate cortex synonym: "cingulate cortex homogenate" EXACT [] xref: NCIt:C52713 xref: NIFSTD:birnlex_934 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0003027\nlabel: cingulate cortex" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003027 [Term] id: EFO:0000344 name: circular visceral mesoderm primordium def: "Primordium of the circular visceral muscle of the trunk. Becomes distinct from the rest of the trunk mesoderm by stage 11 when 2 distinct layers of trunk mesoderm are apparent, the inner of which is the circular visceral muscle primordium. By stage 12, these cells form a palisade consisting of a dorsal row an a ventral row of tightly packed cells. These cells adhere to the anterior and posterior midgut rudiments as they extend. During dorsal closure they spread out to encircle the midgut." [] def: "Primordium of the circular visceral muscle of the trunk. Becomes distinct from the rest of the trunk mesoderm by stage 11 when two distinct layers of trunk mesoderm are apparent, the inner of which is the circular visceral muscle primordium. By stage 12, these cells form a palisade consisting of a dorsal row an a ventral row of tightly packed cells. These cells adhere to the anterior and posterior midgut rudiments as they extend. During dorsal closure they spread out to encircle the midgut." [] synonym: "circular visceral muscle precursor" EXACT [] synonym: "circular visceral muscle primordium" EXACT [] synonym: "P1 ViMus" EXACT [] synonym: "splanchopleura" EXACT [] xref: FBbt:00017015 is_a: UBERON:0000926 ! mesoderm property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000345 name: obsolete_circular visceral muscle fibers property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005072 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005072 [Term] id: EFO:0000346 name: obsolete_classical Hodgkin's lymphoma def: "A monoclonal B-cell lymphoproliferation in the vast majority of cases. It is characterized by a bimodal age distribution (15-30 years of life and late life) and is often associated with EBV infection. In less than 5% of cases it is a monoclonal proliferation of T-lymphocytes. Morphologically, it is characterized by the presence of Reed-Sternberg cells and mononuclear Hodgkin cells. The Reed-Sternberg and mononuclear Hodgkin cells are CD30 positive in nearly all cases and CD15 positive in the majority of cases." [] property_value: definition:citation "C7164" xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.5" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate with Hodgkin's lymphoma (EFO_0000183)" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000183 [Term] id: EFO:0000347 name: classifier prediction def: "An extrapolation into the future of data into a class with specified label." [] is_a: OBI:0200000 ! data transformation property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000348 name: clear cell adenocarcinoma def: "A malignant neoplasm composed of glandular epithelial clear cells. Various architectural patterns may be seen, including papillary, tubulocystic, and solid." [NCIT:P378] synonym: "adenocarcinoma, clear cell, malignant" EXACT [NCIT:C3766] synonym: "clear cell adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "clear cell adenocarcinoma" EXACT [NCIT:C3766] synonym: "clear cell adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "clear cell adenocarcinoma (morphologic abnormality)" EXACT [DOID:4468] synonym: "clear cell adenocarcinoma NOS (morphologic abnormality)" EXACT [DOID:4468] synonym: "clear cell carcinoma" EXACT [NCIT:C3766] synonym: "clear cell carcinoma" RELATED [NCIT:C3766] synonym: "malignant Mesonephroma" EXACT [DOID:4468, NCIT:C4072] synonym: "malignant mesonephroma" RELATED [DOID:4468, NCIT:C4072] synonym: "Mesonephroid clear cell adenocarcinoma" EXACT [NCIT:C3766] synonym: "mesonephroid clear cell adenocarcinoma" RELATED [NCIT:C3766] synonym: "Mesonephroid clear cell carcinoma" EXACT [DOID:4468, NCIT:C3766] synonym: "mesonephroid clear cell carcinoma" RELATED [DOID:4468, NCIT:C3766] synonym: "Mesonephroma NOS (morphologic abnormality)" EXACT [DOID:4468] synonym: "mesonephroma NOS (morphologic abnormality)" EXACT [DOID:4468] synonym: "Mesonephroma, malignant" EXACT [DOID:4468] synonym: "mesonephroma, malignant" RELATED [DOID:4468] synonym: "Mesonephroma, malignant (morphologic abnormality)" EXACT [DOID:4468] synonym: "mesonephroma, malignant (morphologic abnormality)" RELATED [DOID:4468] synonym: "water-clear cell adenocarcinoma" EXACT [DOID:4468, NCIT:C4156] synonym: "water-clear cell adenocarcinoma (morphologic abnormality)" EXACT [DOID:4468] synonym: "water-clear cell carcinoma" EXACT [DOID:4468] synonym: "water-clear cell carcinoma" RELATED [DOID:4468] synonym: "Wolffian duct neoplasm" EXACT [DOID:4468, NCIT:C6782] synonym: "Wolffian duct neoplasm" RELATED [DOID:4468] xref: DOID:4468 {source="MONDO:equivalentTo", source="EFO:0000348"} xref: EFO:0000348 {source="MONDO:equivalentTo"} xref: ICDO:8310/3 {source="NCIT:C3766"} xref: MESH:D018262 {source="DOID:4468", source="MONDO:equivalentTo", source="EFO:0000348"} xref: MONDO:0005004 xref: NCIT:C3766 {source="DOID:4468", source="MONDO:equivalentTo", source="EFO:0000348"} xref: NCIT:C4072 {source="DOID:4468", source="MONDO:directSiblingOf"} xref: UMLS:C0206681 {source="DOID:4468", source="MONDO:equivalentTo", source="NCIT:C3766"} is_a: EFO:0000228 {source="DOID:4468", source="EFO:0000348", source="MESH:D018262", source="NCIT:C3766"} ! adenocarcinoma property_value: closeMatch http://identifiers.org/mesh/D008649 property_value: closeMatch http://identifiers.org/snomedct/189633003 property_value: closeMatch http://identifiers.org/snomedct/189861007 property_value: closeMatch http://identifiers.org/snomedct/2221008 property_value: closeMatch http://identifiers.org/snomedct/30546008 property_value: closeMatch http://identifiers.org/snomedct/80727009 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0025490 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0334322 property_value: closeMatch NCIT:C4156 property_value: exactMatch DOID:4468 property_value: exactMatch DOID:4468 property_value: exactMatch http://identifiers.org/mesh/D018262 property_value: exactMatch http://identifiers.org/mesh/D018262 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206681 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206681 property_value: exactMatch NCIT:C36815 property_value: exactMatch NCIT:C3766 property_value: exactMatch NCIT:C3766 [Term] id: EFO:0000349 name: clear cell renal carcinoma def: "A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common." [NCIT:C4033] synonym: "clear cell adenocarcinoma of kidney" EXACT [NCIT:C4033] synonym: "clear cell adenocarcinoma of the kidney" EXACT [NCIT:C4033] synonym: "clear cell adenocarcinoma, kidney" EXACT [NCIT:C4033] synonym: "clear cell carcinoma of kidney" EXACT [NCIT:C4033] synonym: "clear cell carcinoma of the kidney" EXACT [NCIT:C4033] synonym: "clear cell kidney carcinoma" EXACT [DOID:4467] synonym: "clear cell renal carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "clear cell renal carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "clear cell renal cell cancer" EXACT [NCIT:C4033] synonym: "clear cell renal cell carcinoma" EXACT [NCIT:C4033] synonym: "clear-cell metastatic renal cell carcinoma" RELATED [DOID:4467, MESH:C538445] synonym: "conventional (clear cell) renal cell adenocarcinoma" EXACT [NCIT:C4033] synonym: "conventional (clear cell) renal cell carcinoma" EXACT [DOID:4467, MTH:NOCODE, NCIT:C4033] synonym: "conventional renal cell carcinoma" EXACT [DOID:4467, NCIT:C4033] synonym: "Grawitz tumor" EXACT DEPRECATED [NCIT:C4033] synonym: "Grawitz tumour" EXACT OMO:0003005 [] synonym: "hypernephroma" EXACT DEPRECATED [NCIT:C4033] synonym: "hypernephroma" RELATED DEPRECATED [NCIT:C4033] synonym: "kidney clear cell adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C4033] synonym: "kidney clear cell carcinoma" EXACT [NCIT:C4033] synonym: "RCC, clear cell adenocarcinoma" EXACT [NCIT:C4033] synonym: "renal cell carcinoma, clear cell adenocarcinoma" EXACT [NCIT:C4033] synonym: "renal clear cell adenocarcinoma" EXACT [NCIT:C4033] synonym: "renal clear cell carcinoma" EXACT [NCIT:C4033] xref: DOID:4467 {source="MONDO:equivalentTo", source="EFO:0000349"} xref: EFO:0000349 {source="MONDO:equivalentTo"} xref: GARD:0009574 {source="MONDO:equivalentTo"} xref: ICD9:189.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:189.0 {source="MONDO:relatedTo", source="i2s"} xref: MedDRA:10072444 xref: MONDO:0005005 xref: NCIT:C4033 {source="DOID:4467", source="MONDO:equivalentTo", source="EFO:0000349"} xref: OMIM:144700 xref: ONCOTREE:CCRCC {source="MONDO:equivalentTo"} xref: Orphanet:319276 {source="MONDO:equivalentTo"} xref: SCTID:254915003 {source="DOID:4467", source="MONDO:equivalentTo", source="EFO:0000349"} is_a: EFO:0000348 {source="MONDO:Redundant", source="NCIT:C4033"} ! clear cell adenocarcinoma is_a: EFO:0005708 {source="NCIT:C4033"} ! renal cell adenocarcinoma is_a: MONDO:0007763 ! nonpapillary renal cell carcinoma relationship: EFO:0000784 UBERON:0002113 ! has_disease_location kidney property_value: closeMatch http://identifiers.org/snomedct/188251003 property_value: closeMatch http://identifiers.org/snomedct/41607009 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0279702 property_value: exactMatch DOID:4467 property_value: exactMatch DOID:4467 property_value: exactMatch http://identifiers.org/snomedct/254915003 property_value: exactMatch http://identifiers.org/snomedct/254915003 property_value: exactMatch NCIT:C4033 property_value: exactMatch NCIT:C4033 property_value: exactMatch Orphanet:319276 [Term] id: EFO:0000350 name: clear cell sarcoma of the kidney def: "A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. It is associated with internal tandem duplications in the BCOR gene. It metastasizes to lung, bone, brain and soft tissue." [NCIT:C4264] subset: ordo_disease {source="Orphanet:457246"} synonym: "CCSK" EXACT ABBREVIATION [NCIT:C4264, ONCOTREE:CCSK, Orphanet:457246] synonym: "childhood clear cell sarcoma of the kidney" EXACT [NCIT:C4264] synonym: "childhood kidney clear cell sarcoma" EXACT [DOID:4880, NCIT:C4264] synonym: "childhood renal clear cell sarcoma" EXACT [NCIT:C4264] synonym: "clear cell sarcoma - kidney" EXACT [NCIT:C4264] synonym: "clear cell sarcoma of kidney" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "clear cell sarcoma of kidney" EXACT [] {comment="preferred label from MONDO"} synonym: "clear cell sarcoma of kidney" EXACT [DOID:4880, MONDO:0018707, NCIT:C4264] synonym: "clear cell sarcoma of the kidney" EXACT [NCIT:C4264] synonym: "kidney clear cell sarcoma" EXACT [MONDO:patterns/location, NCIT:C4264] synonym: "paediatric kidney clear cell sarcoma" EXACT OMO:0003005 [] synonym: "paediatric renal clear cell sarcoma" EXACT OMO:0003005 [] synonym: "pediatric kidney clear cell sarcoma" EXACT [NCIT:C4264] synonym: "pediatric renal clear cell sarcoma" EXACT [DOID:4880, NCIT:C4264, NCIT:C6564] synonym: "renal clear cell sarcoma" EXACT [DOID:4880, NCIT:C4264] xref: DOID:4880 {source="EFO:0000350", source="MONDO:equivalentTo"} xref: EFO:0000350 {source="MONDO:equivalentTo"} xref: ICD10:C64 {source="Orphanet:457246", source="ORDO:457246/index", source="ORDO:457246/ntbt"} xref: ICDO:8964/3 {source="NCIT:C4264"} xref: MONDO:0005006 xref: NCIT:C4264 {source="EFO:0000350", source="MONDO:equivalentTo", source="DOID:4880"} xref: ONCOTREE:CCSK {source="MONDO:equivalentTo"} xref: Orphanet:457246 {source="MONDO:equivalentTo"} xref: UMLS:C0334488 {source="NCIT:C4264", source="MONDO:equivalentTo", source="DOID:4880"} xref: UMLS:CN242113 {source="MONDO:equivalentTo"} is_a: EFO:0008498 {source="DOID:4880", source="MONDO:Redundant"} ! clear cell sarcoma is_a: MONDO:0002930 {source="DOID:4880", source="MONDO:Redundant", source="NCIT:C4264"} ! kidney sarcoma relationship: EFO:0000784 UBERON:0002113 ! has_disease_location kidney property_value: closeMatch http://identifiers.org/snomedct/189813000 property_value: closeMatch http://identifiers.org/snomedct/24007003 property_value: exactMatch DOID:4880 property_value: exactMatch DOID:4880 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334488 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334488 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242113 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242113 property_value: exactMatch NCIT:C4264 property_value: exactMatch NCIT:C4264 property_value: exactMatch Orphanet:457246 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: excluded_subClassOf MONDO:0015963 {source="Orphanet:457246"} [Term] id: EFO:0000351 name: obsolete_clinical factor def: "A clincal factors is a biomaterial factor that concerns the observation, treatment or measurement of disease within subjects." [] property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000352 name: clinical history def: "Is an information entity about the material's (i.e., the patient's) medical record as background information relevant to the experiment." [] synonym: "clinical information" EXACT [] synonym: "ClinicalHistory" EXACT [] xref: ICD10:Z87 xref: MO:189 is_a: IAO:0000030 ! information entity property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000353 name: obsolete_clinical history age def: "The time period elapsed since an identifiable point in the life cycle of an organism. If a developmental stage is specified, the identifiable point would be the beginning of that stage." [] property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000354 name: obsolete_clinical information property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000355 name: clinical treatment protocol def: "A clinical treatment is a treatment of some organism designed to have some clinical effect, for example the treatment of a disease E.g. radiotherapy" [] synonym: "clinical treatment" EXACT [] synonym: "clinical_treatment" EXACT [] xref: MO:384 is_a: EFO:0003969 ! treatment protocol property_value: IAO:0000112 "radiotherapy" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000356 name: obsolete_clypeo-labral primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_6005538 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_6005538 [Term] id: EFO:0000357 name: obsolete_cochlea structure def: "A division of the bony labyrinth of the inner ear of higher vertebrates that is usually coiled like a snail shell and is the seat of the hearing organ." [] def: "The snail shell-shaped auditory component of the inner ear. It contains the sensory organ of hearing." [] synonym: "Cochlea" EXACT [] synonym: "Cochlear" EXACT [] synonym: "Cochlear Organ" EXACT [] synonym: "cochlear part of bony labyrinth" EXACT [] xref: BTO:0000267 xref: EHDAA:4716 xref: EMAPA:17597 xref: EV:0100363 xref: FMA:60201 xref: MA:0000240 xref: MAT:0000144 xref: NCIt:C12395 xref: NIFSTD:birnlex_1190 xref: SAEL:21 xref: XAO:0000197 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001844\nlabel: cochlea" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001844 [Term] id: EFO:0000359 name: obsolete_cockayne syndrome def: "A simple genetic disease that is caused by a rare autosomal recessive mutations in two DNA excision repair proteins, ERCC-8 and ERCC-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging." [] def: "A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms." [] def: "An autosomal recessive syndrome caused by mutations in the ERCC8 and ERCC6 genes. It is characterized by growth and developmental delay, vision and hearing impairment, and impairment of the peripheral nervous system function." [] def: "Caused by mutations of gene CKN1." [] def: "Caused by mutations of gene ERCC6." [] def: "Type C is a rare form. Its genetic defect is not clear; appears to be a heterogeneous group. OMIM suggests that Type C should not be used anymore." [] synonym: "Cockayne syndrome (disorder)" EXACT [] synonym: "Cockayne Syndrome Type 3" EXACT [] synonym: "Cockayne Syndrome Type C" EXACT [] synonym: "Cockayne Syndrome, Group A" EXACT [] synonym: "Cockayne Syndrome, Group B" EXACT [] synonym: "Cockayne Syndrome, Group C" EXACT [] synonym: "Cockayne Syndrome, Type A" EXACT [] synonym: "Cockayne Syndrome, Type B" EXACT [] synonym: "Cockayne Syndrome, Type C" EXACT [] synonym: "Cockayne Syndrome, Type I" EXACT [] synonym: "Cockayne Syndrome, Type II" EXACT [] synonym: "Cockayne Syndrome, Type III" EXACT [] synonym: "Cockayne's syndrome" EXACT [] synonym: "Cokayne syndrome" EXACT [] synonym: "Dwarfism-retinal atrophy-deafness syndrome" EXACT [] synonym: "Group A Cockayne Syndrome" EXACT [] synonym: "Group B Cockayne Syndrome" EXACT [] synonym: "Group C Cockayne Syndrome" EXACT [] synonym: "Progeria Like Syndrome" EXACT [] synonym: "Progeria-Like Syndrome" EXACT [] synonym: "Progeria-Like Syndromes" EXACT [] synonym: "Syndrome, Cockayne" EXACT [] synonym: "Syndrome, Progeria-Like" EXACT [] synonym: "Type A Cockayne Syndrome" EXACT [] synonym: "Type B Cockayne Syndrome" EXACT [] synonym: "Type C Cockayne Syndrome" EXACT [] synonym: "Type I Cockayne Syndrome" EXACT [] synonym: "Type II Cockayne Syndrome" EXACT [] synonym: "Type III Cockayne Syndrome" EXACT [] xref: DOID:2962 xref: MeSH:D003057 xref: NCIt:C9460 xref: SNOMEDCT:21086008 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_191' instead.\nNew Label : Cockayne syndrome" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_191 [Term] id: EFO:0000360 name: obsolete_colorectal tumor property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.8" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate with colorectal adenocarcinoma EFO_0000365" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000365 [Term] id: EFO:0000361 name: obsolete_colon def: "The part of the large intestine measured from the cecum to the rectum consisting of ascending, transverse, descending and sigmoid portions. The purpose of the colon is to remove water from digested food prior to excretion." [] def: "The part of the large intestine that extends from the cecum to the rectum." [] def: "The posterior intestine has short longitudinally arranged epithelial folds which are similar to the colon of higher vertebrates." [] synonym: "posterior intestine" EXACT [] xref: BTO:0000269 xref: EMAPA:18939 xref: EV:0100079 xref: FMA:14543 xref: MA:0000335 xref: MAP:0000001 xref: SAEL:22 xref: XAO:0000243 xref: ZFA:0000706 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001155\nlabel: colon" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001155 [Term] id: EFO:0000362 name: obsolete_colon adenocarcinoma def: "An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well differentiated, moderately, and poorly differentiated. Morphologic variants include the mucinous adenocarcinoma and signet-ring adenocarcinoma. Lymphatic or hematogenous spread can occur early in the process and lead to systemic disease." [] xref: DOID:234 xref: NCIt:C4349 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.6.1" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://www.ebi.ac.uk/efo/EFO_0000365 colorectal adenocarcinoma" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000365 [Term] id: EFO:0000363 name: obsolete_colon carcinoma def: "A malignant tumor usually arising from the epithelium lining the large intestinal mucosa. Colon carcinoma is one of the most common malignancies in both males and females, and is especially common in North America and Europe. Grossly, most colon carcinomas are polypoid or ulcerating lesions. Microscopically, adenocarcinoma is the most frequently seen morphologic subtype. Prognosis depends on the stage of the disease (depth of invasion, metastasis to regional/distal lymph nodes or other anatomic sites). -- 2004" [] xref: DOID:1520 xref: NCIt:C4910 xref: SNOMEDCT:269533000 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.6.1" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://www.ebi.ac.uk/efo/EFO_0000365 colorectal adenocarcinoma" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000365 [Term] id: EFO:0000364 name: colon mucinous adenocarcinoma def: "An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion." [NCIT:C7966] synonym: "colloid adenocarcinoma of colon" EXACT [NCIT:C7966] synonym: "colloid adenocarcinoma of the colon" EXACT [NCIT:C7966] synonym: "colloid colon adenocarcinoma" EXACT [NCIT:C7966] synonym: "colloidal adenocarcinoma of colon" EXACT [NCIT:C7966] synonym: "colloidal adenocarcinoma of the colon" EXACT [NCIT:C7966] synonym: "colloidal colon adenocarcinoma" EXACT [NCIT:C7966] synonym: "colon colloid adenocarcinoma" EXACT [NCIT:C7966] synonym: "colon colloidal adenocarcinoma" EXACT [NCIT:C7966] synonym: "colon mucinous adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "colon mucinous adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C7966] synonym: "colon mucinous adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "colonic colloid adenocarcinoma" EXACT [NCIT:C7966] synonym: "colonic colloidal adenocarcinoma" EXACT [NCIT:C7966] synonym: "colonic mucinous adenocarcinoma" EXACT [DOID:3029, NCIT:C7966] synonym: "mucinous adenocarcinoma of colon" EXACT [NCIT:C7966] synonym: "mucinous adenocarcinoma of the colon" EXACT [NCIT:C7966] synonym: "mucinous colon adenocarcinoma" EXACT [NCIT:C7966] xref: DOID:3029 {source="EFO:0000364", source="MONDO:equivalentTo"} xref: EFO:0000364 {source="MONDO:equivalentTo"} xref: MONDO:0005007 xref: NCIT:C7966 {source="EFO:0000364", source="DOID:3029", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C7966 {source="EFO:0000364", source="DOID:3029", source="MONDO:equivalentTo", source="exact-label-match"} xref: UMLS:C0279639 {source="DOID:3029", source="MONDO:equivalentTo", source="NCIT:C7966"} is_a: EFO:0000197 {source="DOID:3029", source="MONDO:Redundant", source="NCIT:C7966/inferred"} ! mucinous carcinoma is_a: EFO:1001949 {source="DOID:3029", source="MONDO:Redundant", source="NCIT:C7966"} ! colon adenocarcinoma relationship: EFO:0000784 UBERON:0001155 ! has_disease_location colon property_value: exactMatch DOID:3029 property_value: exactMatch DOID:3029 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279639 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279639 property_value: exactMatch NCIT:C7966 property_value: exactMatch NCIT:C7966 [Term] id: EFO:0000365 name: colorectal adenocarcinoma alt_id: MONDO:0000528 def: "The most common type of colorectal carcinoma. It is characterized by the presence of malignant glandular epithelial cells invading through the muscularis mucosa into the submucosa. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." [NCIT:C5105] comment: Editor note: we follow NCIT in treating colorectal and large intestine as equivalent synonym: "adenocarcinoma of large bowel" EXACT [NCIT:C5105] synonym: "adenocarcinoma of large intestine" EXACT [NCIT:C5105] synonym: "adenocarcinoma of the large bowel" EXACT [NCIT:C5105] synonym: "adenocarcinoma of the large intestine" EXACT [NCIT:C5105] synonym: "colorectal (colon or rectal) adenocarcinoma" EXACT [NCIT:C5105] synonym: "colorectal adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "colorectal adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "colorectal adenocarcinoma" EXACT [NCIT:C5105] synonym: "colorectum adenocarcinoma" EXACT [MONDO:patterns/location] synonym: "large bowel adenocarcinoma" EXACT [NCIT:C5105] synonym: "large intestine adenocarcinoma" EXACT [NCIT:C5105] xref: DOID:0050861 {source="EFO:0000365", source="MONDO:equivalentTo"} xref: DOID:0050913 {source="MONDO:equivalentTo"} xref: EFO:0000365 {source="MONDO:equivalentTo"} xref: MONDO:0005008 xref: NCIT:C5105 {source="EFO:0000365", source="MONDO:equivalentTo"} xref: NCIT:C5105 {source="DesignPattern", source="EFO:0000365", source="MONDO:equivalentTo"} xref: OMIM:114500 xref: ONCOTREE:COADREAD {source="MONDO:equivalentTo"} xref: SCTID:269533000 {source="EFO:0000365", source="MONDO:directSiblingOf"} xref: SCTID:408645001 {source="DesignPattern", source="MONDO:equivalentTo"} xref: SCTID:408645001 {source="MONDO:equivalentTo"} xref: UMLS:C0699790 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:directSiblingOf"} xref: UMLS:C1319315 {source="MONDO:equivalentTo", source="NCIT:C5105"} is_a: EFO:0000228 {source="DOID:0050913", source="EFO:0000365", source="MONDO:Redundant", source="NCIT:C5105"} ! adenocarcinoma is_a: EFO:1001951 ! colorectal carcinoma relationship: EFO:0000784 UBERON:0001052 ! has_disease_location rectum relationship: EFO:0000784 UBERON:0001155 ! has_disease_location colon property_value: exactMatch DOID:0050861 property_value: exactMatch DOID:0050861 property_value: exactMatch DOID:0050913 property_value: exactMatch DOID:0050913 property_value: exactMatch http://identifiers.org/snomedct/408645001 property_value: exactMatch http://identifiers.org/snomedct/408645001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1319315 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1319315 property_value: exactMatch NCIT:C5105 property_value: exactMatch NCIT:C5105 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/adenocarcinoma.yaml [Term] id: EFO:0000367 name: obsolete_common variable immunodeficiency def: "A hypogammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells. Patients with common variable immunodeficiency have marked reduction in serum levels of both immunoglobulin G (IgG) and immunoglobulin A (IgA); about half of these patients also have reduced immunoglobulin M (IgM)." [] def: "A primary immunodeficiency characterized by low levels or absence of all the immunoglobulin classes and lack of B-lymphocytes or plasma cells. It results in recurrent bacterial infections. Complications include autoimmune phenomena and cancer development." [] def: "Heterogeneous group of immunodeficiency syndromes characterized by hypogammaglobulinemia of most isotypes, variable B-cell defects, and the presence of recurrent bacterial infections." [] synonym: "acquired Agammaglobulinemia" EXACT [] synonym: "Acquired hypogammaglobulinaemia" EXACT [] synonym: "acquired hypogammaglobulinemia" EXACT [] synonym: "Acquired Hypogammaglobulinemias" EXACT [] synonym: "COMMON VARIABL IMMUNODEF" EXACT [] synonym: "Common variable agammaglobulinaemia" EXACT [] synonym: "Common variable agammaglobulinemia" EXACT [] synonym: "Common variable agammaglobulinemia (disorder)" EXACT [] synonym: "Common variable hypogammaglobulinaemia" EXACT [] synonym: "Common Variable Hypogammaglobulinemia" EXACT [] synonym: "Common Variable Hypogammaglobulinemias" EXACT [] synonym: "COMMON VARIABLE IMMUNODEFIC" EXACT [] synonym: "Common Variable Immunodeficiencies" EXACT [] synonym: "CVAG" EXACT [] synonym: "CVI - Common variable immunodeficiency" EXACT [] synonym: "CVID" EXACT [] synonym: "CVID - Common variable immunodeficiency" EXACT [] synonym: "Deficiencies, Late-Onset Immunoglobulin" EXACT [] synonym: "Deficiency, Late-Onset Immunoglobulin" EXACT [] synonym: "Hypogammaglobulinemia, Acquired" EXACT [] synonym: "Hypogammaglobulinemia, Common Variable" EXACT [] synonym: "Hypogammaglobulinemias, Acquired" EXACT [] synonym: "Hypogammaglobulinemias, Common Variable" EXACT [] synonym: "IMMUNODEFIC COMMON VARIABLE" EXACT [] synonym: "Immunodeficiencies, Common Variable" EXACT [] synonym: "Immunodeficiency, Common Variable" EXACT [] synonym: "Immunoglobulin Deficiencies, Late-Onset" EXACT [] synonym: "Immunoglobulin Deficiency, Late Onset" EXACT [] synonym: "Immunoglobulin Deficiency, Late-Onset" EXACT [] synonym: "Late onset immunoglobulin deficiency" EXACT [] synonym: "Late-Onset Immunoglobulin Deficiencies" EXACT [] synonym: "Late-Onset Immunoglobulin Deficiency" EXACT [] synonym: "Sporadic hypogammaglobulinemia" EXACT [] synonym: "Variable Hypogammaglobulinemia, Common" EXACT [] synonym: "Variable Hypogammaglobulinemias, Common" EXACT [] xref: DOID:12177 xref: ICD9:279.06 xref: MeSH:D017074 xref: NCIt:C26725 xref: OMIM:607594 xref: SNOMEDCT:23238000 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_1572' instead.\nNew Label : Common variable immunodeficiency" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_1572 [Term] id: EFO:0000368 name: minor histocompatibility congenic strain def: "A congenic strain in which the donor allele transferred to the host strain background is a minor histocompatibility gene." [] synonym: "MIH" EXACT [] is_a: EFO:0004003 ! congenic strain property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0000369 name: compound based treatment def: "A treatment process in which a chemical compound is administered to the subject under investigation." [] synonym: "compound_based_treatment" EXACT [] xref: MO:798 is_a: EFO:0000727 ! treatment property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000370 name: chemically induced mutation def: "A genetic modification introduced by treatment of an individual by chemical mutagenesis, e.g. by use of ENU" [] synonym: "CI" EXACT [] xref: SNOMEDCT:282109005 is_a: EFO:0005315 ! induced mutation property_value: definition:citation http://www.findmice.org/glossary.jsp xsd:string created_by: Helen Parkinson [Term] id: EFO:0000371 name: obsolete_congenital bilateral absence of the vas deferens def: "Congenital bilateral absence of the vas deferens (CAVD) is a condition in which the two vas deferens, male reproductive organs, fail to form properly prior to birth." [] property_value: definition:citation "Wikipedia: http://en.wikipedia.org/wiki/Congenital_absence_of_the_vas_deferens" xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32.2" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate class with Congenital bilateral absence of vas deferens" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_48 [Term] id: EFO:0000372 name: obsolete_congestive cardiomyopathy def: "A form of CARDIAC MUSCLE disease that is characterized by ventricular dilation, VENTRICULAR DYSFUNCTION, and HEART FAILURE. Risk factors include SMOKING; ALCOHOL DRINKING; HYPERTENSION; INFECTION; PREGNANCY; and mutations in the LMNA gene encoding LAMIN TYPE A, a NUCLEAR LAMINA protein." [] xref: DOID:12930 xref: MeSH:D002311 xref: SNOMEDCT:195021004 xref: SNOMEDCT:399020009 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.7" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Same as dilated cardiomyopathy EFO_0000407" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000407 created_by: Helen Parkinson [Term] id: EFO:0000373 name: congestive heart failure def: "1. inadequacy of the heart so that as a pump it fails to maintain the circulation of blood, with the result that congestion and edema develop in the tissues; SEE ALSO forward heart failure, backward heart failure, right ventricular failure, left ventricular failure. SYN cardiac failure, cardiac insufficiency, congestive heart failure, myocardial insufficiency. 2. resulting clinical syndromes including shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales in various combinations." [] def: "A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (VENTRICULAR DYSFUNCTION), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as MYOCARDIAL INFARCTION." [] def: "Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales." [NCIT:C3080] def: "Heart failure accompanied by EDEMA, such as swelling of the legs and ankles and congestion in the lungs." [] def: "Heart failure caused by dysfunction of the MYOCARDIUM, leading to defective cardiac emptying (contraction) or filling (relaxation)." [] def: "Heart failure involving the LEFT VENTRICLE." [] def: "Heart failure involving the RIGHT VENTRICLE." [] synonym: "Cardiac Failure" EXACT [] synonym: "Cardiac Failure Congestive" EXACT [] synonym: "cardiac failure, congestive" EXACT [DOID:6000, NCIT:C3080] synonym: "CCF - Congestive cardiac failure" EXACT [] synonym: "CHF" EXACT ABBREVIATION [DOID:6000] synonym: "CHF - Congestive heart failure" EXACT [] synonym: "CHF NOS" EXACT [] synonym: "Congestive cardiac failure" EXACT [] synonym: "Congestive heart disease" EXACT [] synonym: "congestive heart disease" EXACT [DOID:6000] synonym: "congestive heart failure" EXACT [] {comment="preferred label from MONDO"} synonym: "Congestive heart failure (disorder)" EXACT [] synonym: "Congestive heart failure, unspecified" EXACT [] synonym: "Congetive cardiac failure" EXACT [] synonym: "Decompensation, Heart" EXACT [] synonym: "FAILURE, CONGESTIVE HEART" EXACT [] synonym: "failure, congestive heart" EXACT [NCIT:C3080] synonym: "Heart Decompensation" EXACT [] synonym: "Heart Failure, Congestive" EXACT [] synonym: "heart failure, congestive" EXACT [NCIT:C3080] synonym: "Myocardial Failure" EXACT [] synonym: "weak heart" EXACT [DOID:6000] xref: DOID:6000 {source="EFO:0000373", source="MONDO:equivalentTo"} xref: ICD9:404.01 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:404.11 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:404.13 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:428 {source="DOID:6000"} xref: ICD9:428.0 {source="EFO:0000373", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:6000"} xref: ICD9:428.9 {source="DOID:6000"} xref: MedDRA:10010684 xref: MONDO:0005009 xref: NCIT:C3080 {source="EFO:0000373", source="MONDO:equivalentTo", source="DOID:6000"} xref: NCIt:C3080 xref: SCTID:42343007 {source="EFO:0000373", source="MONDO:equivalentTo", source="DOID:6000"} xref: SNOMEDCT:42343007 xref: UMLS:C0018802 {source="MONDO:equivalentTo", source="DOID:6000", source="NCIT:C3080"} is_a: EFO:0003144 {source="EFO:0000373", source="NCIT:C3080"} ! heart failure property_value: exactMatch DOID:6000 property_value: exactMatch http://identifiers.org/snomedct/42343007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018802 property_value: exactMatch NCIT:C3080 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000374 name: obsolete_conjunctiva structure def: "A thin, transparent tissue divided into the palpebral conjunctiva (covering the inner side of the eye lid) and the bulbar conjunctiva (covering the eyeball)." [] synonym: "Conjunctiva" EXACT [] xref: NCIt:C12341 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001811\nlabel: conjunctiva" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001811 [Term] id: EFO:0000375 name: array control spike calibration def: "An array design in which a reporter that could be hybridized to an exogenously added nucleic acid or protein (spike) before or during hybridization is used as a control for data processing." [] synonym: "control spike calibration" EXACT [] xref: MO:364 is_a: EFO:0005440 ! array control design property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000376 name: obsolete_conventional clear cell renal carcinoma def: "A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." [] def: "A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common." [] def: "A renal cell carcinoma that is the most common type of renal cell carcinoma. The cancerous cells appear very pale or clear when examined under microscope. This cancer can be effectively treated with surgery if the tumor is confined to the kidney." [] def: "Clear cell carcinoma of kidney is a renal cell carcinoma described as the most common type of renal cell carcinoma. The cancerous cells appear very pale or clear when examined under microscope. This cancer can be effectively treated with surgery if the tumor is confined to the kidney." [] xref: DOID:4467 xref: MeSH:D002292 xref: NCIt:C4033 xref: SNOMEDCT:254915003 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.8" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate of clear cell adenocarcinoma EFO_0000348" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000348 [Term] id: EFO:0000377 name: obsolete_cornea structure def: "A dome-shaped, transparent, avascular tissue covering the front of the eye. It is composed of five layers: squamous epithelium, Bowman's membrane, stroma, Descemet's membrane, and endothelium. Refraction of light contributing to eye's focusing ability is its characteristic function. It contains unmyelinated nerve endings which are responsible for the high sensitivity of the tissue." [] def: "The transparent part of the coat of the eyeball that covers the iris and pupil and admits light to the interior." [] synonym: "Cornea" EXACT [] synonym: "corneal structure" EXACT [] xref: BTO:0000286 xref: MeSH:D003315 xref: NCIt:C12342 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000964\nlabel: cornea" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000964 [Term] id: EFO:0000378 name: obsolete_coronary artery disease property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.24.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication with http://www.ebi.ac.uk/efo/EFO_0001645" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0001645 [Term] id: EFO:0000379 name: obsolete_corpus allatum def: "A neurosecretory organ forming part of the retrocerebral complex." [] def: "One of a pair of separate or fused bodies in many insects that are sometimes closely associated with the corpora cardiaca and that secrete hormones (as juvenile hormone)." [] def: "The primordium that will form the embryonic/larval corpus allatum, a substructure of the embryonic/larval ring gland. It is a paired structure that becomes distinct in early dorsal closure between the head mesoderm and the epidermis of the gnathal segments. During dorsal closure the paired primordia move dorsally to meet and fuse above the cardioblasts of the developing aorta." [] def: "The primordium that will form the embryonic/larval corpus allatum, a substructure of the embryonic/larval ring gland. It is a paired structure that becomes distinct in early dorsal closure between the head mesoderm and the epidermis of the gnathal segments. During dorsal closure the paired primordia move dorsally to meet and fuse above the cardioblasts of the developing aorta." [] synonym: "corpora allata" EXACT [] synonym: "corpus allatum primordium" EXACT [] xref: BTO:0000291 xref: FBbt:00001716 xref: FBbt:00005800 xref: MAT:0000210 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001057\nlabel: corpus allatum" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001057 [Term] id: EFO:0000380 name: obsolete_corpus cardiacum def: "A pair of neurohemal organs located on the walls of the aorta just behind the brain. The corpora cardiaca release their store of PTTH only after they receive a signal from neurosecretory cells in the brain." [] synonym: "corpora cardiaca" EXACT [] xref: BTO:0000432 xref: FBbt:00005799 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001056\nlabel: corpus cardiacum" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001056 [Term] id: EFO:0000381 name: obsolete_corpus striatum def: "Either of a pair of masses of nervous tissue within the brain that contain two large nuclei of gray matter separated by sheets of white matter." [] def: "Striped gray and white matter consisting of the neostriatum and paleostriatum (globus pallidus). It is located in front of and lateral to the thalamus in each cerebral hemisphere. The gray substance is made up of the caudate nucleus and the lentiform nucleus. The white matter is the internal capsule. (MeSH)" [] synonym: "dorsal striatum" EXACT [] synonym: "Neostriatum" EXACT [] synonym: "striate body" EXACT [] synonym: "striated body" EXACT [] synonym: "striatum" EXACT [] xref: BTO:0001311 xref: NCIt:C12448 xref: NIFSTD:birnlex_1672 xref: NIFSTD:nlx_anat_20090201 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000369\nlabel: corpus striatum" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000369 [Term] id: EFO:0000382 name: obsolete_corpus uteri property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0009853 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0009853 [Term] id: EFO:0000383 name: obsolete_cortex def: "The surface layer of gray matter of the cerebrum that functions chiefly in coordination of sensory and motor information." [] xref: BTO:0000233 xref: NCIt:C12443 xref: NIFSTD:birnlex_1494 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.8" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "cortex is ambiguous as class under brain so removed" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000384 name: Crohn's disease def: "A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients." [] def: "A gastrointestinal disorder characterized by chronic inflammation involving all layers of the intestinal wall, noncaseating granulomas affecting the intestinal wall and regional lymph nodes, and transmural fibrosis. Crohn disease most commonly involves the terminal ileum; the colon is the second most common site of involvement." [NCIT:P378] synonym: "Colitis, Granulomatous" EXACT [] synonym: "CROHN DIS" EXACT [] synonym: "Crohn Disease" EXACT [] synonym: "Crohn disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Crohn disease" EXACT [DOID:8778, MESH:D003424, NCIT:C2965] synonym: "Crohn's associated gastritis" EXACT [] synonym: "Crohn's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant, NCIT:C2965] synonym: "Crohn's disease of colon" EXACT [DOID:8778] synonym: "Crohn's disease of large bowel" EXACT [DOID:8778, MTH:NOCODE] synonym: "CROHNS DIS" EXACT [] synonym: "Crohns Disease" EXACT [] synonym: "Enteritis, Granulomatous" EXACT [] synonym: "Enteritis, Regional" EXACT [] synonym: "Gastritis Associated with Crohn Disease" EXACT [] synonym: "Gastritis Associated with Crohn's Disease" EXACT [] synonym: "granulomatous colitis" EXACT [DOID:8778, NCIT:C37262] synonym: "Ileitis, Regional" EXACT [] synonym: "Ileitis, Terminal" EXACT [] synonym: "Ileocolitis" EXACT [] synonym: "paediatric Crohn's disease" EXACT OMO:0003005 [] synonym: "pediatric Crohn's disease" EXACT [DOID:8778, MESH:C536215] synonym: "regional enteritis" EXACT [NCIT:C2965] xref: DOID:8778 {source="EFO:0000384", source="MONDO:equivalentTo"} xref: ICD10:K50 xref: ICD9:555.1 {source="DOID:8778", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10011401 xref: MESH:D003424 {source="https://orcid.org/0000-0003-1967-3726", source="DOID:8778", source="EFO:0000384", source="MONDO:equivalentTo"} xref: MeSH:D003424 xref: MONDO:0005011 xref: NCIt:C27837 xref: NCIT:C2965 {source="EFO:0000384", source="MONDO:equivalentTo"} xref: NCIt:C2965 xref: OMIM:266600 xref: Orphanet:206 {source="MONDO:equivalentObsolete"} xref: SCTID:34000006 {source="EFO:0000384", source="MONDO:directSiblingOf"} xref: SCTID:7620006 {source="DOID:8778", source="MONDO:equivalentTo"} xref: SNOMEDCT:34000006 xref: UMLS:CN043071 {source="MONDO:equivalentTo"} is_a: EFO:0003767 {source="DOID:8778", source="EFO:0000384", source="NCIT:C2965"} ! inflammatory bowel disease relationship: disease_has_feature EFO:1001869 {source="MONDO:Wikidata"} ! dysentery relationship: disease_has_feature MONDO:0002203 {source="MONDO:Wikidata"} ! constipation disorder relationship: disease_has_feature MONDO:0002508 {source="MONDO:Wikidata"} ! gingivitis property_value: exactMatch DOID:8778 property_value: exactMatch http://identifiers.org/mesh/D003424 property_value: exactMatch http://identifiers.org/snomedct/7620006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN043071 property_value: exactMatch NCIT:C2965 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000386 name: crystal cell specific anlage xref: FBbt:00005463 is_a: EFO:0000795 ! animal developmental tissue property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000387 name: obsolete_cultivar def: "A cultivated plant variety selected and given a name because it has desirable characteristics that distinguish it from otherwise similar plants of the same species." [] xref: MO:124 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.4" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "using strain to hang cultivar subclasses in future" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0005135 [Term] id: EFO:0000388 name: electrical current def: "The measure of movement of electrical charges in a conductor measured in milliamperes." [] comment: Formerly class "current milliamperes" xref: NCIt:C48434 is_a: EFO:0001444 ! measurement property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000389 name: cutaneous melanoma def: "A primary melanoma arising from atypical melanocytes in the skin. Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi. Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma." [NCIT:C3510] synonym: "cutaneous (skin) melanoma" EXACT [NCIT:C3510] synonym: "cutaneous melanoma" EXACT [] {comment="preferred label from MONDO"} synonym: "cutaneous melanoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "cutaneous melanoma" EXACT [DOID:8923, MONDO:ambiguous, NCIT:C3510] synonym: "cutaneous melanoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "malignant cutaneous melanoma" EXACT [NCIT:C3510] synonym: "malignant ear melanoma" EXACT [DOID:8923] synonym: "malignant lip melanoma" EXACT [DOID:8923] synonym: "malignant lower limb melanoma" EXACT [DOID:8923] synonym: "malignant melanoma (of skin), stage unspecified" EXACT [NCIT:C3510] synonym: "malignant melanoma of ear and/or external auricular canal" EXACT [DOID:8923] synonym: "malignant melanoma of skin" EXACT [NCIT:C3510] synonym: "malignant melanoma of skin of lower limb" EXACT [DOID:8923] synonym: "malignant melanoma of skin of trunk except scrotum" EXACT [DOID:8923] synonym: "malignant melanoma of skin of upper limb" EXACT [DOID:8923] synonym: "malignant melanoma of skin stage unspecified" EXACT [NCIT:C3510] synonym: "malignant neck melanoma" EXACT [DOID:8923] synonym: "malignant scalp melanoma" EXACT [DOID:8923] synonym: "malignant trunk melanoma" EXACT [DOID:8923] synonym: "malignant upper limb melanoma" EXACT [DOID:8923] synonym: "melanoma (disease) of zone of skin" EXACT [] synonym: "melanoma of skin" EXACT [NCIT:C3510] synonym: "melanoma of the skin" EXACT [NCIT:C3510] synonym: "skin melanoma" EXACT [NCIT:C3510] synonym: "skin, melanoma" EXACT [NCIT:C3510] synonym: "zone of skin melanoma" EXACT [] synonym: "zone of skin melanoma (disease)" EXACT [MONDO:patterns/location] xref: DOID:8923 {source="EFO:0000389", source="MONDO:equivalentTo"} xref: EFO:0000389 {source="MONDO:equivalentTo"} xref: HP:0012056 {source="MONDO:otherHierarchy"} xref: ICD10:C43 {source="DOID:8923"} xref: ICD10:C43.0 {source="DOID:8923"} xref: ICD10:C43.2 {source="DOID:8923"} xref: ICD10:C43.4 {source="DOID:8923"} xref: ICD10:C43.9 {source="DOID:8923"} xref: ICD9:172 {source="DOID:8923", source="EFO:0000389"} xref: ICD9:172.0 {source="DOID:8923"} xref: ICD9:172.2 {source="DOID:8923"} xref: ICD9:172.3 {source="EFO:0000389"} xref: ICD9:172.4 {source="DOID:8923"} xref: ICD9:172.5 {source="DOID:8923"} xref: ICD9:172.8 {source="EFO:0000389"} xref: ICD9:172.9 {source="DOID:8923", source="EFO:0000389"} xref: MONDO:0005012 xref: NCIT:C3510 {source="DOID:8923", source="EFO:0000389", source="MONDO:equivalentTo"} xref: OMIM:155600 xref: OMIM:615848 xref: ONCOTREE:SKCM {source="MONDO:equivalentTo"} xref: SCTID:93655004 {source="DOID:8923", source="EFO:0000389", source="MONDO:equivalentTo"} xref: UMLS:C0151779 {source="DOID:8923", source="MONDO:equivalentTo", source="NCIT:C3510"} xref: UMLS:C0153535 {source="DOID:8923", source="MONDO:equivalentTo"} xref: UMLS:C0153536 {source="DOID:8923", source="MONDO:equivalentTo"} is_a: EFO:0000756 {source="DOID:8923", source="EFO:0000389", source="MONDO:Redundant", source="NCIT:C3510", source="ONCOTREE:SKCM"} ! melanoma is_a: MONDO:0002898 {source="DOID:8923", source="NCIT:C3510"} ! skin cancer is_a: MONDO:0021583 {source="MONDO:Redundant", source="NCIT:C3510"} ! melanocytic skin neoplasm disjoint_from: EFO:1000397 ! Non-Cutaneous Melanoma property_value: closeMatch http://identifiers.org/mesh/C562393 property_value: closeMatch http://identifiers.org/snomedct/154501005 property_value: closeMatch http://identifiers.org/snomedct/154506000 property_value: closeMatch http://identifiers.org/snomedct/188030005 property_value: closeMatch http://identifiers.org/snomedct/188032002 property_value: closeMatch http://identifiers.org/snomedct/188035000 property_value: closeMatch http://identifiers.org/snomedct/188044004 property_value: closeMatch http://identifiers.org/snomedct/188047006 property_value: closeMatch http://identifiers.org/snomedct/188082007 property_value: closeMatch http://identifiers.org/snomedct/190105009 property_value: closeMatch http://identifiers.org/snomedct/269577007 property_value: closeMatch http://identifiers.org/snomedct/93640008 property_value: closeMatch http://identifiers.org/snomedct/93641007 property_value: closeMatch http://identifiers.org/snomedct/93653006 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153529 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0346773 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0346782 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1112782 property_value: exactMatch DOID:8923 property_value: exactMatch DOID:8923 property_value: exactMatch http://identifiers.org/snomedct/93655004 property_value: exactMatch http://identifiers.org/snomedct/93655004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151779 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151779 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153535 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153535 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153536 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153536 property_value: exactMatch NCIT:C3510 property_value: exactMatch NCIT:C3510 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/melanoma.yaml property_value: IAO:0000589 "cutaneous melanoma (disease)" xsd:string [Term] id: EFO:0000390 name: obsolete_cystic fibrosis def: "A congenital metabolic disorder affecting the exocrine glands, inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather. -- 2003" [] def: "A congenital metabolic disorder affecting the exocrine glands, inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather." [] synonym: "CF" EXACT [] synonym: "CF - Cystic fibrosis" EXACT [] synonym: "CYSTIC FIBROS W/O ILEUS" EXACT [] synonym: "Cystic fibrosis (disorder)" EXACT [] synonym: "Cystic fibrosis NOS" EXACT [] synonym: "Cystic fibrosis NOS (disorder)" EXACT [] synonym: "cystic fibrosis with combined manifestations" EXACT [] synonym: "cystic fibrosis with gastrointestinal manifestations" EXACT [] synonym: "cystic fibrosis with meconium ileus" EXACT [] synonym: "cystic fibrosis with meconium ileus (disorder)" EXACT [] synonym: "cystic fibrosis with other manifestations" EXACT [] synonym: "cystic fibrosis with other manifestations (disorder)" EXACT [] synonym: "cystic fibrosis with pulmonary manifestations" EXACT [] synonym: "cystic fibrosis with pulmonary manifestations (disorder)" EXACT [] synonym: "Cystic fibrosis without mention of meconium ileus" EXACT [] synonym: "Fibrocystic disease" EXACT [] synonym: "Meconium ileus in cystic fibrosis (disorder)" EXACT [] synonym: "Meconium obstruction of intestine in mucoviscidosis" EXACT [] synonym: "mucoviscidosis" EXACT [] xref: DOID:1485 xref: ICD9:277.0 xref: ICD9:277.00 xref: MeSH:D003550 xref: NCIt:C2975 xref: OMIM:219700 xref: SNOMEDCT:190905008 xref: SNOMEDCT:190911006 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_586' instead.\nNew Label : Cystic fibrosis" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_586 [Term] id: EFO:0000391 name: damage intensity def: "A measurement of physical damage, e.g. by a caterpillar on a plant leaf" [] is_a: EFO:0001444 ! measurement property_value: IAO:0000112 "by a caterpillar on a plant leaf" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000392 name: obsolete_damage response def: "Physiological response to e.g. leaf's response to physical damage by a caterpillar on a plant leaf" [] property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced by response to wounding, imported from GO" xsd:string property_value: IAO:0000112 "leaf's response to physical damage by a caterpillar on a plant leaf" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/GO_0009611 [Term] id: EFO:0000393 name: Robertsonian translocation def: "A particular type of translocation in which the breakpoints in the two chromosomes occur at or near the centromere, followed by centric fusion such that the long arms now form a metacentric chromosome with a single centromere. Any small fragments generated in the exchange are usually lost. See also" [] synonym: "RB" EXACT [] xref: NCIt:C28447 xref: SNOMEDCT:81568008 is_a: EFO:0004024 ! translocation property_value: definition:citation http://www.findmice.org/glossary.jsp xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0000394 name: dedifferentiated chondrosarcoma def: "An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor." [NCIT:C6476] synonym: "DDCHS" RELATED ABBREVIATION [ONCOTREE:DDCHS] synonym: "Dedifferentiated chondrosarcoma" EXACT [NCIT:C6476] synonym: "dedifferentiated chondrosarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "dedifferentiated chondrosarcoma" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0081247 {source="MONDO:equivalentTo"} xref: EFO:0000394 {source="MONDO:equivalentTo"} xref: ICDO:9243/3 {source="NCIT:C6476"} xref: MONDO:0005013 xref: NCIT:C6476 {source="EFO:0000394", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C6476 {source="EFO:0000394", source="MONDO:equivalentTo", source="exact-label-match"} xref: ONCOTREE:DDCHS {source="MONDO:equivalentTo"} xref: UMLS:C0862878 {source="NCIT:C6476", source="MONDO:equivalentTo"} is_a: MONDO:0000515 ! bone chondrosarcoma is_a: MONDO:0021054 {source="NCIT:C6476"} ! bone sarcoma relationship: EFO:0000784 UBERON:0001474 ! has_disease_location bone element property_value: closeMatch http://identifiers.org/snomedct/128776008 property_value: exactMatch DOID:0081247 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0862878 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0862878 property_value: exactMatch NCIT:C6476 property_value: exactMatch NCIT:C6476 [Term] id: EFO:0000395 name: delivery method def: "A description of the method used to deliver e.g. a compound or solution for treatment." [] synonym: "DeliveryMethod" EXACT [] xref: MO:223 is_a: OBI:0000272 ! protocol property_value: IAO:0000112 "a compound or solution for treatment." xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000397 name: dermal neurofibroma def: "A dermal neurofibroma is a neurofibroma that occurs in situ of the skin." [] is_a: EFO:0000622 ! neurofibroma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000398 name: dermatomyositis def: "A myositis and is_a dermatitis that results_in inflammation located_in muscle and located_in skin. The disease may result from either a viral infection or an autoimmune reaction." [] def: "A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)" [] def: "Dermatomyositis (DM) is a type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness." [Orphanet:221] subset: gard_rare subset: ordo_disease {source="Orphanet:221"} synonym: "[X]Dermatopolymyositis, unspecified" EXACT [] synonym: "[X]Dermatopolymyositis, unspecified (disorder)" EXACT [] synonym: "adult dermatomyositis" NARROW [GARD:0006263, Orphanet:221] synonym: "Adult Type Dermatomyositides" EXACT [] synonym: "Adult Type Dermatomyositis" EXACT [] synonym: "Amyopathic dermatomyositis" RELATED [DOID:10223, MESH:C538250] synonym: "Dermatomyositides" EXACT [] synonym: "Dermatomyositides, Adult Type" EXACT [] synonym: "dermatomyositis" EXACT [] {comment="preferred label from MONDO"} synonym: "dermatomyositis" EXACT [MONDO:0005014] synonym: "Dermatomyositis (disorder)" EXACT [] synonym: "Dermatomyositis, Adult Type" EXACT [] synonym: "Dermatomyositis, Childhood Type" EXACT [] synonym: "Dermatopolymyositides" EXACT [] synonym: "Dermatopolymyositis" EXACT [] synonym: "dermatopolymyositis" EXACT [DOID:10223] synonym: "Dermatopolymyositis, unspecified" EXACT [] synonym: "Dermatopolymyositis, unspecified (disorder)" EXACT [] synonym: "DM" EXACT ABBREVIATION [Orphanet:221] synonym: "DM - Dermatomyositis" EXACT [] synonym: "Polydermatomyositis" EXACT [] synonym: "Polymyositis Dermatomyositis" EXACT [] synonym: "Polymyositis with skin involvement" EXACT [] synonym: "polymyositis with skin involvement" EXACT [DOID:10223] synonym: "Polymyositis-Dermatomyositides" EXACT [] synonym: "Polymyositis-Dermatomyositis" EXACT [] synonym: "Wagner-Unverricht syndrome" EXACT [] xref: DOID:10223 {source="EFO:0000398", source="MONDO:equivalentTo"} xref: ICD10:M33 xref: ICD9:710.3 {source="EFO:0000398", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10223"} xref: MedDRA:10012503 {source="Orphanet:221/e", source="Orphanet:221"} xref: MESH:D003882 {source="Orphanet:221/e", source="EFO:0000398", source="MONDO:equivalentTo", source="Orphanet:221", source="DOID:10223"} xref: MeSH:D003882 xref: MONDO:0016367 xref: NCIT:C26744 {source="EFO:0000398", source="MONDO:equivalentTo", source="DOID:10223"} xref: NCIt:C26744 xref: Orphanet:221 {source="MONDO:equivalentTo", source="GARD:0006263"} xref: SCTID:396230008 {source="EFO:0000398", source="MONDO:equivalentTo", source="DOID:10223"} xref: SNOMEDCT:396230008 xref: UMLS:C0011633 {source="Orphanet:221/e", source="MONDO:equivalentTo", source="NCIT:C26744", source="Orphanet:221", source="DOID:10223"} is_a: EFO:0003063 {source="MESH:D003882"} ! polymyositis is_a: EFO:0005755 {source="https://orcid.org/0000-0002-0736-9199"} ! rheumatic disease is_a: MONDO:0002406 ! dermatitis relationship: EFO:0000784 UBERON:0000014 ! has_disease_location zone of skin relationship: EFO:0000784 UBERON:0001015 ! has_disease_location musculature property_value: closeMatch http://identifiers.org/meddra/10012503 property_value: exactMatch DOID:10223 property_value: exactMatch http://identifiers.org/mesh/D003882 property_value: exactMatch http://identifiers.org/snomedct/396230008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011633 property_value: exactMatch NCIT:C26744 property_value: exactMatch Orphanet:221 property_value: excluded_subClassOf MONDO:0003900 {source="MESH:D003882"} property_value: excluded_subClassOf MONDO:0017368 {source="Orphanet:221"} property_value: excluded_subClassOf MONDO:0019724 {source="Orphanet:221"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Gautier Koscielny" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000399 name: developmental stage def: "A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" [] comment: This branch will be replaced by, and if necessary merged with an Uberon import in future. synonym: "development stage" EXACT [] synonym: "developmental_stage" EXACT [] synonym: "life cycle stage" EXACT [] xref: MO:878 xref: NCIt:C43531 is_a: BFO:0000015 ! process property_value: branch:class "true" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000400 name: diabetes mellitus def: "A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE." [] def: "A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." [NCIT:P378] synonym: "Diabetes" EXACT [] synonym: "diabetes" EXACT [NCIT:C2985] synonym: "diabetes mellitus" EXACT [] {comment="preferred label from MONDO"} synonym: "diabetes mellitus" EXACT [MONDO:ambiguous, NCIT:C2985] synonym: "diabetes mellitus (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Diabetes mellitus (disorder)" EXACT [] synonym: "Diabetes mellitus, NOS" EXACT [] synonym: "Diabetes NOS" EXACT [] synonym: "DM" EXACT ABBREVIATION [NCIT:C2985] synonym: "DM - Diabetes mellitus" EXACT [] xref: DOID:9351 {source="EFO:0000400", source="MONDO:equivalentTo"} xref: HP:0000819 {source="MONDO:otherHierarchy"} xref: ICD10:E13 xref: ICD10:E14 xref: ICD10CM:E08-E13 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="DOID:9351", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:250 {source="EFO:0000400", source="DOID:9351"} xref: MedDRA:10012601 xref: MedDRA:10012624 xref: MedDRA:10012625 xref: MESH:D003920 {source="EFO:0000400", source="MONDO:equivalentTo", source="DOID:9351"} xref: MeSH:D003920 xref: MONDO:0005015 xref: NCIT:C2985 {source="EFO:0000400", source="MONDO:equivalentTo", source="DOID:9351"} xref: NCIt:C2985 xref: OMIM:612227 xref: SCTID:73211009 {source="EFO:0000400", source="MONDO:equivalentTo", source="DOID:9351"} xref: SNOMEDCT:73211009 xref: UMLS:C0011847 {source="MONDO:equivalentTo"} xref: UMLS:C0011849 {source="MONDO:equivalentTo", source="DOID:9351", source="NCIT:C2985"} is_a: EFO:0009406 {source="DOID:9351", source="MESH:D003920", source="NCIT:C2985"} ! glucose metabolism disease is_a: MONDO:0001933 {source="NCIT:C2985"} ! endocrine pancreas disorder property_value: exactMatch DOID:9351 property_value: exactMatch http://identifiers.org/mesh/D003920 property_value: exactMatch http://identifiers.org/snomedct/73211009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011847 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011849 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E08-E13 property_value: exactMatch NCIT:C2985 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5723 xsd:anyURI property_value: IAO:0000589 "diabetes mellitus (disease)" xsd:string [Term] id: EFO:0000401 name: diabetic nephropathy def: "Diabetic nephropathy (sometimes called Kimmelstiel-Wilson syndrome) is a progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis." [] def: "Progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis." [NCIT:C84417] synonym: "Diabetes with renal manifestations" EXACT [] synonym: "Diabetes with renal manifestations (disorder)" EXACT [] synonym: "Diabetes-nephrosis syndrome" EXACT [] synonym: "Diabetes-nephrosis syndrome (disorder)" EXACT [] synonym: "Diabetic Glomerulosclerosis" EXACT [] synonym: "Diabetic Kidney Disease" EXACT [] synonym: "diabetic kidney disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Diabetic Kidney Diseases" EXACT [] synonym: "Diabetic Nephropathies" EXACT [] synonym: "diabetic nephropathy" EXACT [NCIT:C84417] synonym: "Diabetic renal disease" EXACT [] synonym: "Diabetic renal disease (disorder)" EXACT [] synonym: "DKD" EXACT ABBREVIATION [NCIT:C84417] synonym: "DMII RENAL UNCNTRLD" EXACT [] synonym: "DMII RENL NT ST UNCNTRLD" EXACT [] synonym: "Glomerulosclerosis, Diabetic" EXACT [] synonym: "Glomerulosclerosis, Nodular" EXACT [] synonym: "Intracapillary Glomerulosclerosis" EXACT [] synonym: "Kidney Disease, Diabetic" EXACT [] synonym: "Kidney Diseases, Diabetic" EXACT [] synonym: "Kimmelstiel - Wilson disease" EXACT [] synonym: "Kimmelstiel Wilson Disease" EXACT [] synonym: "Kimmelstiel Wilson Syndrome" EXACT [] synonym: "Kimmelstiel-Wilson Disease" EXACT [] synonym: "Kimmelstiel-Wilson Syndrome" EXACT [] synonym: "Nephropathies, Diabetic" EXACT [] synonym: "Nephropathy, Diabetic" EXACT [] synonym: "Nephrotic syndrome due to diabetes mellitus" EXACT [] synonym: "Nephrotic syndrome in diabetes mellitus" EXACT [] synonym: "Nephrotic syndrome in diabetes mellitus (disorder)" EXACT [] synonym: "Nodular Glomerulosclerosis" EXACT [] synonym: "Renal disorder associated with diabetes mellitus" EXACT [] synonym: "Syndrome, Kimmelstiel-Wilson" EXACT [] synonym: "type 1 diabetes nephropathy" NARROW [MONDO:0005442] synonym: "type 2 diabetes nephropathy" NARROW [MONDO:0005443] xref: DOID:11503 {source="MONDO:relatedTo", source="EFO:0000401"} xref: EFO:0004996 {source="MONDO:equivalentTo"} xref: EFO:0004997 {source="MONDO:equivalentTo"} xref: ICD9:250.4 {source="EFO:0000401"} xref: ICD9:250.40 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:583.81 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10061835 xref: MESH:D003928 {source="MONDO:equivalentTo", source="EFO:0000401"} xref: MeSH:D003928 xref: MONDO:0005016 xref: NCIT:C84417 {source="MONDO:equivalentTo", source="EFO:0000401"} xref: NCIt:C84417 xref: OMIM:612624 xref: OMIM:612628 xref: OMIM:612634 xref: SCTID:127013003 {source="MONDO:equivalentTo", source="EFO:0000401"} xref: SCTID:50620007 {source="MONDO:relatedTo", source="EFO:0000401"} xref: SNOMEDCT:127013003 xref: SNOMEDCT:197605007 xref: SNOMEDCT:311366001 xref: SNOMEDCT:38542009 xref: SNOMEDCT:54181000 xref: SNOMEDCT:707221002 is_a: EFO:0000589 {source="EFO:0000401", source="MESH:D003928/inferred"} ! metabolic disease is_a: EFO:0003884 {source="NCIT:C84417"} ! chronic kidney disease relationship: disease_arises_from_feature EFO:0000400 ! diabetes mellitus relationship: EFO:0000784 UBERON:0002113 ! has_disease_location kidney property_value: exactMatch http://identifiers.org/mesh/D003928 property_value: exactMatch http://identifiers.org/snomedct/127013003 property_value: exactMatch NCIT:C84417 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000402 name: diffuse gastric adenocarcinoma def: "An adenocarcinoma arising from the stomach. Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma. Many cells contain mucin droplets, producing a signet-ring configuration." [NCIT:C9159] synonym: "adenocarcinoma of linitis plastica type" EXACT [DOID:6217, NCIT:C9159] synonym: "adenocarcinoma of the linitis plastica type" EXACT [NCIT:C9159] synonym: "carcinoma, diffuse type" EXACT [DOID:6217] synonym: "carcinoma, diffuse type (morphologic abnormality)" EXACT [DOID:6217] synonym: "diffuse adenocarcinoma of stomach" EXACT [NCIT:C9159] synonym: "diffuse adenocarcinoma of the stomach" EXACT [NCIT:C9159] synonym: "diffuse gastric adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "diffuse gastric adenocarcinoma" EXACT [NCIT:C9159] synonym: "diffuse gastric adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "diffuse stomach adenocarcinoma" EXACT [NCIT:C9159] synonym: "diffuse type stomach adenocarcinoma" RELATED [ONCOTREE:DSTAD] synonym: "gastric diffuse adenocarcinoma" EXACT [MONDO:0003814] synonym: "stomach diffuse type adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:6217 {source="MONDO:equivalentTo"} xref: EFO:0000402 {source="MONDO:equivalentTo"} xref: MONDO:0005017 xref: NCIT:C9159 {source="DOID:6217", source="MONDO:equivalentTo", source="EFO:0000402"} xref: ONCOTREE:DSTAD {source="MONDO:equivalentTo"} is_a: EFO:0000503 {source="DOID:6217", source="MONDO:Redundant", source="NCIT:C9159", source="ONCOTREE:DSTAD"} ! gastric adenocarcinoma is_a: MONDO:0021652 {source="MONDO:Redundant", source="NCIT:C9159"} ! diffuse type adenocarcinoma relationship: disease_has_feature MONDO:0002839 ! leather-bottle stomach relationship: EFO:0000784 UBERON:0000945 ! has_disease_location stomach property_value: closeMatch http://identifiers.org/snomedct/24505004 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0279635 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0334280 property_value: exactMatch DOID:6217 property_value: exactMatch DOID:6217 property_value: exactMatch NCIT:C9159 property_value: exactMatch NCIT:C9159 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql [Term] id: EFO:0000403 name: diffuse large B-cell lymphoma def: "Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing masses (that may or may not be painful) in nodal or extranodal sites (such as thyroid, skin, breast, gastrointestinal tract, testes, bone, or brain) and that can be accompanied by symptoms of fever, night sweats and weight loss. DLBCL has an aggressive disease course, with the elderly having a poorer prognosis than younger patients, and with relapses being common." [Orphanet:544] subset: disease_grouping subset: gard_rare {source="GARD:0003178"} subset: ordo_group_of_disorders {source="Orphanet:544"} synonym: "diffuse large B-cell lymphoma" EXACT [] {comment="preferred label from MONDO"} synonym: "diffuse large B-cell lymphoma" EXACT [MONDO:0005018, NCIT:C8851] synonym: "diffuse large B-cell lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "DLBCL" EXACT ABBREVIATION [NCIT:C8851, Orphanet:544] xref: DOID:0050745 {source="MONDO:equivalentTo", source="EFO:0000403"} xref: EFO:0000403 {source="MONDO:equivalentTo"} xref: GARD:0003178 {source="MONDO:equivalentTo"} xref: ICD10:C83.3 {source="Orphanet:544", source="ORDO:544/e"} xref: ICD9:200.7 {source="EFO:0000403"} xref: ICDO:9680/3 {source="NCIT:C8851"} xref: MedDRA:10012818 {source="Orphanet:544", source="Orphanet:544/e"} xref: MedDRA:10012818 {source="Orphanet:544", source="ORDO:544/e"} xref: MESH:D016403 {source="Orphanet:544", source="MONDO:equivalentTo", source="EFO:0000403", source="ORDO:544/e"} xref: MESH:D016403 {source="Orphanet:544", source="MONDO:equivalentTo", source="Orphanet:544/e", source="EFO:0000403"} xref: MONDO:0018905 xref: NCIT:C8851 {source="MONDO:equivalentTo", source="EFO:0000403"} xref: Orphanet:544 {source="MONDO:equivalentTo"} xref: UMLS:C0079744 {source="Orphanet:544", source="NCIT:C8851", source="MONDO:equivalentTo", source="Orphanet:544/e"} xref: UMLS:C0079744 {source="Orphanet:544", source="NCIT:C8851", source="MONDO:equivalentTo", source="ORDO:544/e"} is_a: EFO:0000096 {source="EFO:0000403", source="NCIT:C8851/inferred"} ! neoplasm of mature B-cells is_a: MONDO:0017595 {source="Orphanet:544"} ! aggressive B-cell non-Hodgkin lymphoma property_value: closeMatch http://identifiers.org/meddra/10012818 property_value: exactMatch DOID:0050745 property_value: exactMatch DOID:0050745 property_value: exactMatch http://identifiers.org/meddra/10012818 property_value: exactMatch http://identifiers.org/mesh/D016403 property_value: exactMatch http://identifiers.org/mesh/D016403 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0079744 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0079744 property_value: exactMatch NCIT:C8851 property_value: exactMatch NCIT:C8851 property_value: exactMatch Orphanet:544 property_value: gwas:trait "true" xsd:boolean property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3178/diffuse-large-B-cell-lymphoma xsd:anyURI {source="GARD:0003178"} [Term] id: EFO:0000404 name: diffuse scleroderma def: "A rapid onset form of SYSTEMIC SCLERODERMA with progressive widespread SKIN thickening over the arms, the legs and the trunk, resulting in stiffness and disability." [] def: "A variant of systemic scleroderma characterized by sclerosis of the skin, Raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement." [NCIT:P378] synonym: "Diffuse cutaneous scleroderma" EXACT [] synonym: "Diffuse cutaneous systemic sclerosis" EXACT [] synonym: "diffuse scleroderma" EXACT [] {comment="preferred label from MONDO"} synonym: "Diffuse systemic sclerosis" EXACT [] synonym: "diffuse systemic sclerosis" EXACT [DOID:1580] synonym: "Progressive Scleroderma" EXACT [] synonym: "Progressive Systemic Sclerosis" EXACT [] synonym: "Scleroderma, Diffuse" EXACT [] synonym: "Scleroderma, Progressive" EXACT [] synonym: "Scleroderma, Sudden Onset" EXACT [] synonym: "Sclerodermas, Sudden Onset" EXACT [] synonym: "Sclerosis, Progressive Systemic" EXACT [] synonym: "Sudden Onset Scleroderma" EXACT [] synonym: "Sudden Onset Sclerodermas" EXACT [] synonym: "Systemic sclerosis, diffuse" EXACT [] synonym: "systemic sclerosis, diffuse" EXACT [DOID:1580] synonym: "systemic sclerosis, diffuse (disorder)" EXACT [] synonym: "Systemic Sclerosis, Progressive" EXACT [] xref: DOID:1580 {source="MONDO:equivalentTo", source="EFO:0000404"} xref: MedDRA:10012941 xref: MESH:D045743 {source="MONDO:equivalentTo", source="EFO:0000404", source="DOID:1580"} xref: MeSH:D045743 xref: MONDO:0005019 xref: NCIT:C116791 {source="EFO:0000404", source="MONDO:directSiblingOf", source="DOID:1580"} xref: NCIt:C116791 xref: SNOMEDCT:128460000 xref: SNOMEDCT:444133002 is_a: EFO:0000717 {source="DOID:1580", source="MESH:D045743"} ! systemic scleroderma relationship: EFO:0000784 UBERON:0000014 ! has_disease_location zone of skin property_value: exactMatch DOID:1580 property_value: exactMatch http://identifiers.org/mesh/D045743 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000405 name: digestive system disease def: "A disease or disorder that involves the digestive system." [MONDO:design_pattern] def: "Chronic or recurrent gastrointestinal disorders without an identifiable structural or biochemical explanation by the routine diagnostic tests. Functional gastrointestinal disorders are classified according to the presumed site of the disorder, such as IRRITABLE BOWEL SYNDROME, non-ulcer DYSPEPSIA, and non-cardiac CHEST PAIN." [] def: "Diseases in any part of the GASTROINTESTINAL TRACT or the accessory organs (LIVER; BILIARY TRACT; PANCREAS)." [] def: "Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." [] subset: rare_grouping synonym: "[X]Other diseases of intestines" EXACT [] synonym: "[X]Other diseases of intestines (disorder)" EXACT [] synonym: "[X]Other diseases of the digestive system" EXACT [] synonym: "[X]Other diseases of the digestive system (disorder)" EXACT [] synonym: "[X]Other specified diseases of anus and rectum" EXACT [] synonym: "[X]Other specified diseases of anus and rectum (disorder)" EXACT [] synonym: "alimentary system disease" EXACT [DOID:77] synonym: "Cholera Infantum" EXACT [] synonym: "digestive disease" EXACT [NCIT:C2990] synonym: "DIGESTIVE SYSTEM DIS" EXACT [] synonym: "digestive system disease" EXACT [NCIT:C2990] synonym: "digestive system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "Digestive System Diseases" EXACT [] synonym: "Digestive system diseases NOS" EXACT [] synonym: "Digestive system diseases NOS (disorder)" EXACT [] synonym: "digestive system disorder" EXACT [DOID:77, NCIT:C2990] synonym: "digestive system disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "Disease of digestive system" EXACT [] synonym: "disease of digestive system" EXACT [MONDO:design_pattern, MONDO:patterns/location_top] synonym: "Disease of digestive system (disorder)" EXACT [] synonym: "Disease of digestive system, NOS" EXACT [] synonym: "disease or disorder of digestive system" EXACT [] synonym: "Disease, Digestive System" EXACT [] synonym: "Disease, Gastrointestinal" EXACT [] synonym: "DISEASES OF THE DIGESTIVE SYSTEM" EXACT [] synonym: "Diseases, Digestive System" EXACT [] synonym: "Diseases, Gastrointestinal" EXACT [] synonym: "Disorder of digestive system" EXACT [] synonym: "disorder of digestive system" EXACT [MONDO:patterns/location_top, NCIT:C2990] synonym: "Disorder of digestive system (disorder)" EXACT [] synonym: "Disorder, Functional Gastrointestinal" EXACT [] synonym: "Disorders, Functional Gastrointestinal" EXACT [] synonym: "Functional digestive disorders, not elsewhere classified" EXACT [] synonym: "Functional Gastrointestinal Disorder" EXACT [] synonym: "Functional Gastrointestinal Disorders" EXACT [] synonym: "gastroenterological system disease" EXACT [MONDO:cjm] synonym: "gastroenterological system disorder" EXACT [MONDO:cjm] synonym: "gastroenteropathy" EXACT [DOID:77] synonym: "Gastrointestinal and digestive disorder" EXACT [] synonym: "GASTROINTESTINAL DIS" EXACT [] synonym: "Gastrointestinal Disease" EXACT [] synonym: "gastrointestinal disease" EXACT [DOID:77] synonym: "Gastrointestinal Diseases" EXACT [] synonym: "gastrointestinal disorder" EXACT [DOID:77, NCIT:C2990] synonym: "Gastrointestinal Disorder, Functional" EXACT [] synonym: "Gastrointestinal Disorders, Functional" EXACT [] synonym: "gastrointestinal system disease" EXACT [NCIT:C2990] synonym: "gastrointestinal system disorder" EXACT [NCIT:C2990] synonym: "git disease" EXACT [DOID:77] synonym: "GIT diseases" EXACT [] synonym: "Infantum, Cholera" EXACT [] synonym: "intestinal disease" EXACT [] synonym: "intestinal diseases" EXACT [] synonym: "OTHER DISEASES OF DIGESTIVE SYSTEM" EXACT [] synonym: "OTHER DISEASES OF INTESTINES AND PERITONEUM" EXACT [] synonym: "Other diseases of the intestines and peritoneum" EXACT [] synonym: "Other diseases of the intestines and peritoneum (disorder)" EXACT [] synonym: "Other disorders of gallbladder" EXACT [] synonym: "Other disorders of intestine" EXACT [] synonym: "Other disorders of intestine (disorder)" EXACT [] synonym: "Other gallbladder disorders" EXACT [] synonym: "Other gallbladder disorders (disorder)" EXACT [] synonym: "Other gallbladder disorders NOS" EXACT [] synonym: "Other gallbladder disorders NOS (disorder)" EXACT [] synonym: "Other intestinal disorders NOS" EXACT [] synonym: "Other intestinal disorders NOS (disorder)" EXACT [] synonym: "Other intestine disorders" EXACT [] synonym: "Other specified disorders of rectum and anus" EXACT [] synonym: "POSTOP GI FUNCT DIS NEC" EXACT [] synonym: "RECTAL & ANAL DIS NEC" EXACT [] synonym: "stomach or intestinal disorder" EXACT [NCIT:C2990] synonym: "System Disease, Digestive" EXACT [] synonym: "System Diseases, Digestive" EXACT [] xref: DOID:5295 xref: DOID:77 {source="MONDO:equivalentTo"} xref: ICD10:K31 xref: ICD10:K91 xref: ICD10:K92 xref: ICD10CM:K00-K95 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:520-579.99 {source="DOID:77"} xref: ICD9:560-569.99 xref: ICD9:564 xref: ICD9:564.4 xref: ICD9:569 xref: ICD9:569.4 xref: ICD9:569.49 xref: ICD9:570-579.99 xref: ICD9:575 xref: ICD9:V47.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MeSH:D004066 xref: MESH:D005767 {source="MONDO:equivalentTo"} xref: MeSH:D005767 xref: MeSH:D007410 xref: MONDO:0004335 xref: NCIT:C2990 {source="MONDO:equivalentTo"} xref: SCTID:53619000 {source="DOID:77", source="MONDO:equivalentTo"} xref: SNOMEDCT:53619000 is_a: EFO:0000408 ! disease disjoint_from: EFO:0001460 ! uninfected property_value: exactMatch DOID:77 property_value: exactMatch http://identifiers.org/mesh/D005767 property_value: exactMatch http://identifiers.org/snomedct/53619000 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K00-K95 property_value: exactMatch NCIT:C2990 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000407 name: dilated cardiomyopathy def: "A form of CARDIAC MUSCLE disease that is characterized by ventricular dilation, VENTRICULAR DYSFUNCTION, and HEART FAILURE. Risk factors include SMOKING; ALCOHOL DRINKING; HYPERTENSION; INFECTION; PREGNANCY; and mutations in the LMNA gene encoding LAMIN TYPE A, a NUCLEAR LAMINA protein." [] def: "An intrinsic cardiomyopathy that results in damage to the myocardium causing the heart to pump blood inefficiently." [] def: "Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure." [NCIT:P378] def: "decreased function of the heart associated with cardiac enlargement and congestive heart failure" [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:217604"} synonym: "Cardiomyopathies, Congestive" EXACT [] synonym: "Cardiomyopathies, Dilated" EXACT [] synonym: "Cardiomyopathies, Familial Idiopathic" EXACT [] synonym: "Cardiomyopathy, Congestive" EXACT [] synonym: "Cardiomyopathy, Dilated" EXACT [] synonym: "Cardiomyopathy, Dilated, CMD1A" EXACT [] synonym: "Cardiomyopathy, Dilated, LMNA" EXACT [] synonym: "Cardiomyopathy, Dilated, with Conduction Deffect1" EXACT [] synonym: "Cardiomyopathy, Familial Idiopathic" EXACT [] synonym: "CCM - Congestive cardiomyopathy" EXACT [] synonym: "COCM - Congestive cardiomyopathy" EXACT [] synonym: "Congestive Cardiomyopathies" EXACT [] synonym: "Congestive cardiomyopathy" EXACT [] synonym: "congestive cardiomyopathy" RELATED [DOID:12930] synonym: "Congestive cardiomyopathy (disorder)" EXACT [] synonym: "Congestive dilated cardiomyopathy" EXACT [] synonym: "DCM" EXACT [] synonym: "DCM - Dilated cardiomyopathy" EXACT [] synonym: "Dilated Cardiomyopathies" EXACT [] synonym: "dilated cardiomyopathy" EXACT [] {comment="preferred label from MONDO"} synonym: "familial dilated cardiomyopathy" RELATED [DOID:12930, MESH:C536231] synonym: "Familial Idiopathic Cardiomyopathies" EXACT [] synonym: "Familial Idiopathic Cardiomyopathy" EXACT [] synonym: "Idiopathic Cardiomyopathies, Familial" EXACT [] synonym: "Idiopathic Cardiomyopathy, Familial" EXACT [] synonym: "idiopathic dilation cardiomyopathy" RELATED [DOID:12930, MESH:C536277] synonym: "Primary dilated cardiomyopathy" EXACT [] synonym: "primary dilated cardiomyopathy" RELATED [DOID:12930] synonym: "primary dilated cardiomyopathy (disorder)" EXACT [] xref: DOID:12930 {source="MONDO:equivalentTo", source="EFO:0000407"} xref: HP:0001644 {source="MONDO:otherHierarchy", source="EFO:0000407"} xref: ICD10CM:I42.0 {source="DOID:12930", source="Orphanet:217604", source="MONDO:equivalentTo", source="Orphanet:217604/e"} xref: ICD9:425.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10056370 {source="Orphanet:217604", source="Orphanet:217604/e"} xref: MedDRA:10056419 xref: MESH:D002311 {source="DOID:12930", source="Orphanet:217604", source="MONDO:equivalentTo", source="Orphanet:217604/e", source="EFO:0000407"} xref: MeSH:D002311 xref: MONDO:0005021 xref: MP:0002795 {source="EFO:0000407"} xref: NCIT:C84673 {source="DOID:12930", source="MONDO:equivalentTo", source="EFO:0000407"} xref: NCIt:C84673 xref: OMIM:115200 xref: OMIM:615916 xref: OMIM:618189 xref: Orphanet:217604 {source="DOID:12930", source="MONDO:equivalentTo"} xref: SCTID:195021004 {source="DOID:12930", source="MONDO:equivalentTo"} xref: SNOMEDCT:399020009 xref: UMLS:C0007193 {source="DOID:12930", source="Orphanet:217604", source="MONDO:equivalentTo", source="Orphanet:217604/e", source="NCIT:C84673"} is_a: MONDO:0000591 {source="DOID:12930", source="Wikipedia:Cardiomyopathy"} ! intrinsic cardiomyopathy property_value: closeMatch http://identifiers.org/meddra/10056370 property_value: exactMatch DOID:12930 property_value: exactMatch http://identifiers.org/mesh/D002311 property_value: exactMatch http://identifiers.org/snomedct/195021004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007193 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/I42.0 property_value: exactMatch NCIT:C84673 property_value: exactMatch Orphanet:217604 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000408 name: disease def: "A disease is a disposition that describes states of disease associated with a particular sample and/or organism." [] def: "A disease is a disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism." [OGMS:0000031] synonym: "condition" EXACT [NCIT:C2991] synonym: "disease" EXACT [NCIT:C2991] synonym: "disease" EXACT [] {comment="preferred label from MONDO"} synonym: "disease or disorder" EXACT [NCIT:C2991] synonym: "disease or disorder, non-neoplastic" EXACT [NCIT:C2991] synonym: "diseases" EXACT [NCIT:C2991] synonym: "diseases and disorders" EXACT [NCIT:C2991] synonym: "disorder" EXACT [NCIT:C2991] synonym: "disorders" EXACT [NCIT:C2991] synonym: "Homo sapiens disease" EXACT [] synonym: "human disease" EXACT [] synonym: "medical condition" EXACT [] synonym: "other disease" EXACT [NCIT:C2991] xref: DOID:4 {source="MONDO:equivalentTo", source="EFO:0000408"} xref: ICD10:R69 xref: ICD9:799.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D004194 {source="MONDO:equivalentTo", source="DOID:4", source="EFO:0000408"} xref: MeSH:D004194 xref: MONDO:0000001 xref: NCIT:C2991 {source="MONDO:equivalentTo", source="DOID:4"} xref: OGMS:0000031 {source="MONDO:equivalentTo"} xref: Orphanet:377788 {source="MONDO:equivalentTo"} xref: SCTID:64572001 {source="MONDO:equivalentTo", source="DOID:4", source="EFO:0000408"} xref: SNOMEDCT:64572001 xref: UMLS:C0012634 {source="MONDO:equivalentTo", source="NCIT:C2991", source="DOID:4"} is_a: BFO:0000016 ! disposition disjoint_from: EFO:0001460 ! uninfected disjoint_from: EFO:0001461 ! control property_value: exactMatch DOID:4 property_value: exactMatch http://identifiers.org/mesh/D004194 property_value: exactMatch http://identifiers.org/snomedct/64572001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0012634 property_value: exactMatch NCIT:C2991 property_value: exactMatch Orphanet:377788 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000409 name: disease free survival def: "A temporal measurement of the period after successful treatment in which there is no appearance of the symptoms or effects of the disease." [] synonym: "Disease-Free Survival" EXACT [] synonym: "morbidity-free survival" EXACT [] xref: MeSH:D018572 is_a: EFO:0000482 ! event free survival time property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000410 name: disease staging def: "The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" [] synonym: "disease_staging" EXACT [] xref: MO:792 is_a: BFO:0000016 ! disposition disjoint_from: EFO:0001460 ! uninfected disjoint_from: EFO:0001461 ! control property_value: IAO:0000112 "Dukes C stage describing colon cancer" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000411 name: obsolete_disease state def: "The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed. E.g Acute Lymphocytic Leukemia" [] xref: MO:787 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.6" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate with 'disease factor' EFO_0000408." xsd:string property_value: IAO:0000112 "Acute Lymphocytic Leukemia" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000408 [Term] id: EFO:0000412 name: distant metastasis free survival def: "Is a temporal measure from a defined start point e.g. diagnosis, or treatment of the period to appearance of a distant metastasis. A distant metastasis refers to cancer that has spread from the original (primary) tumor to distant organs or distant lymph nodes. Also known as distant cancer." [] synonym: "event distant metastases" EXACT [] synonym: "time to development of distant metastases" EXACT [] is_a: EFO:0004919 ! metastasis free survival property_value: definition:citation http://www.cancer.gov/dictionary?cdrid=415317 xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0000413 name: dorsal apodeme specific anlage xref: FBbt:00005476 is_a: EFO:0000795 ! animal developmental tissue property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000414 name: obsolete_ectoderm def: "The outer of the three germ layers of the embryo (the other two being mesoderm and endoderm). Ectoderm gives rise to epidermis and neural tissue." [] synonym: "dorsal ectoderm anlage" EXACT [] xref: BTO:0000315 xref: FBbt:00005428 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000924\nlabel: ectoderm" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000924 [Term] id: EFO:0000415 name: dorsal ectoderm anlage in statu nascendi synonym: "A0dorEC" EXACT [] xref: FBbt:00005832 is_a: EFO:0000795 ! animal developmental tissue property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000416 name: dorsal ectoderm primordium synonym: "dorEcP2" EXACT [] synonym: "dorsal ectodermal primordium" EXACT [] xref: FBbt:00005527 is_a: EFO:0000795 ! animal developmental tissue property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000417 name: obsolete_dorsal epidermis primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_6005526 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_6005526 [Term] id: EFO:0000418 name: obsolete_dorsal histoblast nest abdominal property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_6001791 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_6001791 [Term] id: EFO:0000419 name: obsolete_dorsal imaginal precursor property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_6005831 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_6005831 [Term] id: EFO:0000420 name: obsolete_dorsal mesothoracic disc def: "Dorsal imaginal disc of the mesothorax. Precursor of dorsal mesothoracic structures of the adult including the postnotum, scutum, scutellum, wing, wing hinge and part of the notal plura." [] synonym: "wing disc" EXACT [] xref: FBbt:00001778 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.34" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate with wing disc - please use that http://www.ebi.ac.uk/efo/EFO_0001933" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0001933 [Term] id: EFO:0000421 name: obsolete_dorsal metathoracic disc property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_6001779 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_6001779 [Term] id: EFO:0000422 name: obsolete_dorsal pharyngeal muscle primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005498 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005498 [Term] id: EFO:0000423 name: dorsal prothoracic pharyngeal muscle xref: FBbt:00000489 is_a: EFO:0000795 ! animal developmental tissue property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000424 name: obsolete_dorsal ridge property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_4200173 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_4200173 [Term] id: EFO:0000426 name: obsolete_dorsal trunk specific anlage property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00017010 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00017010 [Term] id: EFO:0000427 name: obsolete_dorsomedial neurosecretory cell property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00004011 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00004011 [Term] id: EFO:0000428 name: dose def: "The total quantity or strength of a substance administered at one time." [] xref: NCIt:C25488 is_a: EFO:0001444 ! measurement property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000429 name: obsolete_Duchenne muscular dystrophy def: "An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)" [] synonym: "Becker Muscular Dystrophy" EXACT [] synonym: "Childhood Muscular Dystrophy, Pseudohypertrophic" EXACT [] synonym: "Childhood Pseudohypertrophic Muscular Dystrophy" EXACT [] synonym: "DMD - Duchenne muscular dystrophy" EXACT [] synonym: "Duchenne musc. dyst." EXACT [] synonym: "Duchenne muscular dystrophy (disorder)" EXACT [] synonym: "Duchenne Type Progressive Muscular Dystrophy" EXACT [] synonym: "Duchenne-Type Progressive Muscular Dystrophy" EXACT [] synonym: "Dystrophies, Pseudohypertrophic Muscular" EXACT [] synonym: "Dystrophy, Becker Muscular" EXACT [] synonym: "Dystrophy, Duchenne Muscular" EXACT [] synonym: "Dystrophy, Pseudohypertrophic Muscular" EXACT [] synonym: "Muscular Dystrophies, Pseudohypertrophic" EXACT [] synonym: "Muscular Dystrophy, Becker" EXACT [] synonym: "Muscular Dystrophy, Childhood, Pseudohypertrophic" EXACT [] synonym: "Muscular dystrophy, Duchenne" EXACT [] synonym: "Muscular Dystrophy, Pseudohypertrophic" EXACT [] synonym: "Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type" EXACT [] synonym: "Muscular Dystrophy, Pseudohypertrophic, Childhood" EXACT [] synonym: "Progressive Muscular Dystrophy, Duchenne Type" EXACT [] synonym: "Pseudohypertrophic Childhood Muscular Dystrophy" EXACT [] synonym: "Pseudohypertrophic Muscular Dystrophies" EXACT [] synonym: "Pseudohypertrophic Muscular Dystrophy" EXACT [] synonym: "Pseudohypertrophic Muscular Dystrophy, Childhood" EXACT [] xref: DOID:11723 xref: MeSH:D020388 xref: OMIM:310200 xref: SNOMEDCT:76670001 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "use 'http://www.orpha.net/ORDO/Orphanet_98896' instead.\nNew Label : Duchenne muscular dystrophy" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000430 name: obsolete_ductal adenocarcinoma property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.9.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate of, and more ambiguous than, EFO:0000430 ductal adenocarcinoma (http://www.ebi.ac.uk/efo/EFO_0000430)" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0006318 [Term] id: EFO:0000431 name: obsolete_ductal breast carcinoma def: "A carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: Ductal carcinoma in situ (DCIS) and invasive ductal carcinoma, not otherwise specified. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist." [] xref: DOID:3008 xref: NCIt:C4017 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.5" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate with invasive ductal carcinoma (EFO_0000186)" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000186 [Term] id: EFO:0000432 name: breast ductal carcinoma in situ def: "A carcinoma entirely confined to the mammary ducts. It is also known as DCIS. There is no evidence of invasion of the basement membrane. Currently, it is classified into three categories: High-grade DCIS, intermediate-grade DCIS and low-grade DCIS. In this classification the DCIS grade is defined by a combination of nuclear grade, architectural growth pattern and presence of necrosis. The size of the lesion as well as the grade and the clearance margins play a major role in dictating the most appropriate therapy for DCIS." [NCIT:P378] synonym: "breast ductal carcinoma in situ" RELATED [ONCOTREE:DCIS] synonym: "carcinoma in situ of mammary duct" EXACT [MONDO:patterns/carcinoma_in_situ] synonym: "DCIS" EXACT ABBREVIATION [NCIT:C2924] synonym: "ductal breast carcinoma in situ" EXACT [NCIT:C2924] synonym: "ductal breast carcinoma in situ" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "ductal breast carcinoma in situ" EXACT [] {comment="preferred label from MONDO"} synonym: "ductal carcinoma in situ" EXACT [NCIT:C2924] synonym: "ductal carcinoma in situ (DCIS)" EXACT [NCIT:C2924] synonym: "ductal carcinoma in situ of breast" EXACT [NCIT:C2924] synonym: "ductal carcinoma in situ of the breast" EXACT [NCIT:C2924] synonym: "intraductal breast carcinoma" EXACT [NCIT:C2924] synonym: "intraductal carcinoma" EXACT [NCIT:C2924] synonym: "intraductal carcinoma of breast" EXACT [NCIT:C2924] synonym: "intraductal carcinoma of the breast" EXACT [NCIT:C2924] synonym: "mammary duct carcinoma in situ" EXACT [] synonym: "mammary duct in situ carcinoma" EXACT [MONDO:patterns/location] synonym: "non-infiltrating ductal adenocarcinoma of breast" EXACT [NCIT:C2924] synonym: "non-infiltrating ductal adenocarcinoma of the breast" EXACT [NCIT:C2924] synonym: "non-infiltrating ductal breast adenocarcinoma" EXACT [NCIT:C2924] synonym: "non-infiltrating ductal breast carcinoma" EXACT [NCIT:C2924] synonym: "non-infiltrating ductal carcinoma of breast" EXACT [NCIT:C2924] synonym: "non-infiltrating ductal carcinoma of the breast" EXACT [NCIT:C2924] synonym: "non-infiltrating intraductal adenocarcinoma" EXACT [NCIT:C2924] synonym: "non-infiltrating intraductal adenocarcinoma of breast" EXACT [NCIT:C2924] synonym: "non-infiltrating intraductal adenocarcinoma of the breast" EXACT [NCIT:C2924] synonym: "non-infiltrating intraductal breast adenocarcinoma" EXACT [NCIT:C2924] synonym: "non-infiltrating intraductal carcinoma" EXACT [NCIT:C2924] synonym: "non-invasive ductal adenocarcinoma of breast" EXACT [NCIT:C2924] synonym: "non-invasive ductal adenocarcinoma of the breast" EXACT [NCIT:C2924] synonym: "non-invasive ductal breast adenocarcinoma" EXACT [NCIT:C2924] synonym: "non-invasive ductal breast carcinoma" EXACT [NCIT:C2924] synonym: "non-invasive ductal carcinoma of breast" EXACT [NCIT:C2924] synonym: "non-invasive ductal carcinoma of the breast" EXACT [NCIT:C2924] synonym: "non-invasive intraductal adenocarcinoma of breast" EXACT [NCIT:C2924] synonym: "non-invasive intraductal adenocarcinoma of the breast" EXACT [NCIT:C2924] synonym: "non-invasive intraductal breast adenocarcinoma" EXACT [NCIT:C2924] synonym: "stage 0 mammary duct carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ] xref: DOID:0060074 {source="MONDO:equivalentTo", source="EFO:0000432"} xref: EFO:0000432 {source="MONDO:equivalentTo"} xref: ICD9:233.0 {source="EFO:0000432"} xref: ICD9:233.0 {source="MONDO:subClassOf", source="EFO:0000432"} xref: ICDO:8500/2 {source="NCIT:C2924"} xref: MESH:D002285 {source="MONDO:equivalentTo"} xref: MONDO:0005023 xref: NCIT:C2924 {source="MONDO:equivalentTo", source="EFO:0000432"} xref: ONCOTREE:DCIS {source="MONDO:equivalentTo"} is_a: EFO:0006318 {source="MONDO:Redundant", source="NCIT:C2924"} ! breast ductal adenocarcinoma is_a: MONDO:0003218 {source="MONDO:Redundant", source="NCIT:C2924/inferred"} ! adenocarcinoma in situ is_a: MONDO:0004007 {source="NCIT:C2924"} ! breast intraductal proliferative lesion is_a: MONDO:0004658 {source="DOID:0060074", source="MONDO:Redundant", source="NCIT:C2924"} ! breast carcinoma in situ property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0007124 property_value: exactMatch DOID:0060074 property_value: exactMatch DOID:0060074 property_value: exactMatch http://identifiers.org/mesh/D002285 property_value: exactMatch http://identifiers.org/mesh/D002285 property_value: exactMatch NCIT:C2924 property_value: exactMatch NCIT:C2924 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma_in_situ.yaml [Term] id: EFO:0000433 name: duration def: "A temporal measurement of the time between two specified points." [] xref: NCIt:C25330 xref: NIFSTD:birnlex_2052 xref: SNOMEDCT:103335007 is_a: EFO:0000719 ! temporal measurement property_value: IAO:0000112 "60 seconds duration of centrifugation" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000434 name: ecotype def: "A biotype resulting from selection in a particular habitat, e.g. the A. thaliana Ecotype Ler" [] xref: MeSH:D060146 xref: MO:71 is_a: OBI:0000181 ! population property_value: IAO:0000112 "the A. thaliana Ecotype Ler" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000435 name: ectoderm anlage in statu nascendi xref: FBbt:00005414 is_a: EFO:0000795 ! animal developmental tissue is_a: UBERON:0002050 ! embryonic structure property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000436 name: obsolete_plant embryo def: "The early developmental stage that, through embryological development, ultimately becomes an adult individual. In plants, that portion of a seed that will form the growing seedling following germination; it has a radicle, apical meristem, and embryonic leaf or leaves." [] synonym: "embryo" EXACT [] synonym: "GRO:0005343" EXACT [] synonym: "plant germ" EXACT [] xref: BTO:0001233 xref: MAT:0000226 xref: NCIt:C28147 xref: PO:0009009 xref: ZEA:0015179 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with PO_0009009" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0009009 [Term] id: EFO:0000437 name: embryonal rhabdomyosarcoma def: "A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis." [NCIT:P378] subset: ordo_clinical_subtype {source="Orphanet:99757"} synonym: "botryoid rhabdomyosarcoma (type of ERMS)" RELATED [GARD:0004702] synonym: "embryonal rhabdomyosarcoma" EXACT [MONDO:ambiguous, NCIT:C8971] synonym: "embryonal rhabdomyosarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "embryonal rhabdomyosarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "embryonal rhabdomyosarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "ERMS" EXACT ABBREVIATION [NCIT:C8971] synonym: "rhabdomyosarcoma 1" RELATED [OMIM:268210] synonym: "rhabdomyosarcoma chromosomal region" RELATED [OMIM:268210] synonym: "rhabdomyosarcoma embryonal" RELATED [GARD:0004702] synonym: "rhabdomyosarcoma, embryonal, 1" RELATED [MONDO:Lexical, OMIM:268210] synonym: "rhabdomyosarcoma, embryonal, type 1" EXACT [MONDORULE:1, OMIM:268210] synonym: "rhabdomyosarcoma, somatic" EXACT [OMIM:268210, OMIM:genemap2] synonym: "RMSE1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:268210] synonym: "spindle cell rhabdomyosarcomas (type of ERMS)" RELATED [GARD:0004702] xref: DOID:3246 {source="MONDO:equivalentTo", source="EFO:0000437"} xref: EFO:0000437 {source="MONDO:equivalentTo"} xref: GARD:0004702 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0006743 {source="MONDO:otherHierarchy"} xref: ICD10:C49.9 {source="Orphanet:99757", source="ORDO:99757/ntbt"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8910/3 {source="NCIT:C8971"} xref: MedDRA:10065868 {source="ORDO:99757/e", source="Orphanet:99757"} xref: MedDRA:10065868 {source="Orphanet:99757", source="Orphanet:99757/e"} xref: MONDO:0009993 xref: NCIT:C8971 {source="DOID:3246", source="MONDO:equivalentTo", source="EFO:0000437"} xref: OMIM:268210 {source="Orphanet:99757", source="DOID:3246", source="MONDO:equivalentTo", source="EFO:0000437", source="Orphanet:99757/e"} xref: OMIM:268210 {source="ORDO:99757/e", source="Orphanet:99757", source="DOID:3246", source="MONDO:equivalentTo", source="EFO:0000437"} xref: ONCOTREE:ERMS {source="MONDO:equivalentTo"} xref: Orphanet:99757 {source="DOID:3246", source="OMIM:268210", source="MONDO:equivalentTo"} xref: SCTID:404051002 {source="DOID:3246", source="MONDO:equivalentTo", source="EFO:0000437"} xref: UMLS:C0206656 {source="NCIT:C8971", source="Orphanet:99757", source="DOID:3246", source="MONDO:equivalentTo", source="Orphanet:99757/e"} xref: UMLS:C0206656 {source="NCIT:C8971", source="ORDO:99757/e", source="Orphanet:99757", source="DOID:3246", source="MONDO:equivalentTo"} is_a: EFO:0002918 {source="DC-OMIM:268210", source="DOID:3246", source="EFO:0000437", source="NCIT:C8971", source="ONCOTREE:ERMS", source="Orphanet:99757"} ! rhabdomyosarcoma property_value: closeMatch http://identifiers.org/meddra/10065868 property_value: closeMatch http://identifiers.org/omim/180295 property_value: closeMatch http://identifiers.org/snomedct/14269005 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1849385 property_value: exactMatch DOID:3246 property_value: exactMatch DOID:3246 property_value: exactMatch http://identifiers.org/meddra/10065868 property_value: exactMatch http://identifiers.org/mesh/D018233 property_value: exactMatch http://identifiers.org/omim/268210 property_value: exactMatch http://identifiers.org/snomedct/404051002 property_value: exactMatch http://identifiers.org/snomedct/404051002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206656 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206656 property_value: exactMatch https://omim.org/entry/268210 property_value: exactMatch NCIT:C8971 property_value: exactMatch NCIT:C8971 property_value: exactMatch Orphanet:99757 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000589 "embryonal rhabdomyosarcoma (disease)" xsd:string [Term] id: EFO:0000438 name: obsolete_embryonic anal pad property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005748 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005748 [Term] id: EFO:0000439 name: obsolete_embryonic antennal sense organ property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005568 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005568 [Term] id: EFO:0000440 name: obsolete_embryonic brain property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_6001060 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_6001060 [Term] id: EFO:0000441 name: obsolete_embryonic central brain property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005662 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005662 [Term] id: EFO:0000442 name: obsolete_embryonic central brain glia property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005663 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005663 [Term] id: EFO:0000443 name: obsolete_embryonic central brain mushroom body property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005508 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005508 [Term] id: EFO:0000444 name: obsolete_embryonic central brain neuron property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005665 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005665 [Term] id: EFO:0000445 name: obsolete_embryonic central brain pars intercerebralis property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005667 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005667 [Term] id: EFO:0000446 name: obsolete_embryonic central brain surface glia property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005664 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005664 [Term] id: EFO:0000447 name: embryonic central nervous system xref: FBbt:00001056 is_a: UBERON:0002050 ! embryonic structure property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000448 name: embryonic corpus allatum def: "A component of the embryonic/larval ring gland composed of a cluster of about 10 cells that sit medially on top of the aorta." [] synonym: "embryonic/larval corpus allatum" EXACT [] xref: FBbt:00001719 is_a: UBERON:0002050 ! embryonic structure property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000449 name: embryonic corpus cardiacum def: "The corpora cardiaca precursor first appear during stage 10 as two pairs of head mesoderm cells between the roof of the stomodeum and the inner surface of the brain primordium. Between stages 11 and 15, these cells migrate posteriorly, gradually increasing in number. During stage 15, they fuse with the precursors of the corpus allatum from the gnathal mesoderm to form the ring gland." [] def: "The corpora cardiaca precursor first appear during stage 10 as two pairs of head mesoderm cells between the roof of the stomodeum and the inner surface of the brain primordium. Between stages 11 and 15, these cells migrate posteriorly, gradually increasing in number. During stage 15, they fuse with the precursors of the corpus allatum from the gnathal mesoderm to form the ring gland." [] synonym: "corpus cardiacum placode" EXACT [] synonym: "corpus cardiacum primordium" EXACT [] synonym: "P1 CC" EXACT [] xref: FBbt:00001720 is_a: UBERON:0002050 ! embryonic structure property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000450 name: embryonic cuprophilic cell xref: FBbt:00005625 is_a: UBERON:0002050 ! embryonic structure property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000451 name: obsolete_embryonic dorsal apodeme property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005745 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005745 [Term] id: EFO:0000452 name: obsolete_embryonic dorsal epidermis property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005744 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005744 [Term] id: EFO:0000453 name: obsolete_embryonic epipharynx property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005614 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005614 [Term] id: EFO:0000454 name: obsolete_embryonic esophageal ganglion property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005670 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005670 [Term] id: EFO:0000455 name: obsolete_embryonic esophagus property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005612 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005612 [Term] id: EFO:0000456 name: obsolete_embryonic foregut property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005606 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005606 [Term] id: EFO:0000457 name: obsolete_embryonic foregut sensory structure property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005616 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005616 [Term] id: EFO:0000458 name: obsolete_embryonic frontal ganglion property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005668 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005668 [Term] id: EFO:0000459 name: obsolete_embryonic ganglion mother cell property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00001433 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00001433 [Term] id: EFO:0000460 name: obsolete_embryonic gastric caecum property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00017027 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00017027 [Term] id: EFO:0000463 name: obsolete_Emery-Dreifuss muscular dystrophy def: "A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant, and autosomal recessive gene mutations." [] synonym: "Autosomal Dominant Emery Dreifuss Muscular Dystrophy" EXACT [] synonym: "Autosomal Dominant Emery-Dreifuss Muscular Dystrophy" EXACT [] synonym: "Autosomal Recessive Emery Dreifuss Muscular Dystrophy" EXACT [] synonym: "Autosomal Recessive Emery-Dreifuss Muscular Dystrophy" EXACT [] synonym: "Benign scapuloperoneal muscular dystrophy with early contractures" EXACT [] synonym: "EMD - Emery-Dreifuss muscular dystrophy" EXACT [] synonym: "Emery Dreifuss Muscular Dystrophy 2" EXACT [] synonym: "Emery Dreifuss Muscular Dystrophy, Autosomal Recessive" EXACT [] synonym: "Emery Dreifuss Muscular Dystrophy, X Linked" EXACT [] synonym: "Emery Dreifuss Syndrome" EXACT [] synonym: "Emery-Dreifuss muscular dystrophy (disorder)" EXACT [] synonym: "Emery-Dreifuss Muscular Dystrophy 2" EXACT [] synonym: "Emery-Dreifuss Muscular Dystrophy, Autosomal Recessive" EXACT [] synonym: "Emery-Dreifuss Muscular Dystrophy, X-Linked" EXACT [] synonym: "Emery-Dreifuss Syndrome" EXACT [] synonym: "Emery-Dreifuss Type Muscular Dystrophy" EXACT [] synonym: "Hauptmann Thannhauser Muscular Dystrophy" EXACT [] synonym: "Hauptmann-Thannhauser Muscular Dystrophy" EXACT [] synonym: "Muscular Dystrophy, Emery Dreifuss" EXACT [] synonym: "Muscular Dystrophy, Emery-Dreifuss" EXACT [] synonym: "Muscular Dystrophy, Emery-Dreifuss Type" EXACT [] synonym: "Muscular Dystrophy, Emery-Dreifuss, Autosomal Dominant" EXACT [] synonym: "Muscular Dystrophy, Emery-Dreifuss, Autosomal Recessive" EXACT [] synonym: "Muscular Dystrophy, Emery-Dreifuss, X-Linked" EXACT [] synonym: "Muscular Dystrophy, Scapuloperoneal" EXACT [] synonym: "Scapuloilioperoneal Atrophy with Cardiopathy" EXACT [] synonym: "Scapuloperoneal Muscular Dystrophy" EXACT [] synonym: "Scapuloperoneal muscular dystrophy (disorder)" EXACT [] synonym: "Scapuloperoneal Syndrome, X Linked" EXACT [] synonym: "Scapuloperoneal Syndrome, X-Linked" EXACT [] synonym: "X Linked Emery Dreifuss Muscular Dystrophy" EXACT [] synonym: "X-Linked Emery-Dreifuss Muscular Dystrophy" EXACT [] synonym: "X-Linked Scapuloperoneal Syndrome" EXACT [] xref: DOID:11726 xref: MeSH:D020389 xref: OMIM:181350 xref: SNOMEDCT:111508004 xref: SNOMEDCT:129620000 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_261' instead.\nNew Label : Emery-Dreifuss muscular dystrophy" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_261 [Term] id: EFO:0000464 name: emphysema def: "A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing." [NCIT:C3348] synonym: "emphysema" EXACT [MONDO:0005024] synonym: "EMPHYSEMA, PULMONARY" EXACT [] synonym: "emphysema, pulmonary" EXACT [NCIT:C3348] synonym: "Pulmonary Emphysema" EXACT [] synonym: "pulmonary emphysema" EXACT [] {comment="preferred label from MONDO"} xref: DOID:9675 {source="EFO:0000464", source="MONDO:equivalentTo"} xref: ICD10:J43 xref: ICD10CM:J43 {source="MONDO:equivalentTo"} xref: ICD9:492 {source="EFO:0000464"} xref: ICD9:492.8 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:9675"} xref: MedDRA:10014561 xref: MESH:D004646 {source="EFO:0000464", source="MONDO:equivalentTo"} xref: MeSH:D004646 xref: MESH:D011656 {source="MONDO:equivalentTo"} xref: MONDO:0004849 xref: NCIT:C3348 {source="EFO:0000464", source="MONDO:equivalentTo"} xref: NCIt:C3348 xref: SCTID:87433001 {source="MONDO:equivalentTo"} xref: SNOMEDCT:49158009 is_a: EFO:0000341 {source="DOID:9675", source="MESH:D011656", source="NCIT:C3348"} ! chronic obstructive pulmonary disease relationship: EFO:0000784 UBERON:0002048 ! has_disease_location lung property_value: exactMatch DOID:9675 property_value: exactMatch http://identifiers.org/mesh/D004646 property_value: exactMatch http://identifiers.org/mesh/D011656 property_value: exactMatch http://identifiers.org/snomedct/87433001 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/J43 property_value: exactMatch NCIT:C3348 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000465 name: endocarditis def: "A heart disease involving non-infectious inflammation of the endocardium (inner layer of the heart)." [] def: "Inflammation of the endocardium." [NCIT:C34582] def: "Inflammation of the inner lining of the heart (ENDOCARDIUM), the continuous membrane lining the four chambers and HEART VALVES. It is often caused by microorganisms including bacteria, viruses, fungi, and rickettsiae. Left untreated, endocarditis can damage heart valves and become life-threatening." [] synonym: "acute Endocarditis" EXACT [] synonym: "acute endocarditis (disorder)" EXACT [] synonym: "acute endocarditis NOS (disorder)" EXACT [] synonym: "acute endocarditis, unspecified" EXACT [] synonym: "Endocarditides" EXACT [] synonym: "Endocarditides, Infective" EXACT [] synonym: "endocarditis" EXACT [MONDO:ambiguous] synonym: "endocarditis" EXACT [] {comment="preferred label from MONDO"} synonym: "endocarditis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Endocarditis (disorder)" EXACT [] synonym: "Endocarditis NOS" EXACT [] synonym: "Endocarditis, Infective" EXACT [] synonym: "Endocarditis, NOS" EXACT [] synonym: "endocardium inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "Infective Endocarditides" EXACT [] synonym: "Infective Endocarditis" EXACT [] synonym: "inflammation of endocardium" EXACT [] synonym: "non-infective endocarditis" EXACT [] xref: DOID:10314 {source="MONDO:equivalentTo", source="EFO:0000465"} xref: HP:0100584 {source="MONDO:otherHierarchy"} xref: ICD10:I33 xref: ICD10:I38 xref: ICD9:421.9 {source="DOID:10314", source="EFO:0000465"} xref: ICD9:424.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10014665 xref: MedDRA:10014688 xref: MedDRA:10014689 xref: MESH:D004696 {source="DOID:10314", source="MONDO:equivalentTo", source="EFO:0000465"} xref: MeSH:D004696 xref: MONDO:0005025 xref: NCIT:C34582 {source="DOID:10314", source="MONDO:equivalentTo", source="EFO:0000465"} xref: NCIt:C34582 xref: SCTID:56819008 {source="DOID:10314", source="MONDO:equivalentTo", source="EFO:0000465"} xref: SNOMEDCT:56819008 is_a: MONDO:0000470 {source="DOID:10314", source="MONDO:Redundant"} ! endocardium disorder is_a: MONDO:0024636 ! inflammation of heart layer relationship: EFO:0000784 UBERON:0002165 ! has_disease_location endocardium property_value: exactMatch DOID:10314 property_value: exactMatch http://identifiers.org/mesh/D004696 property_value: exactMatch http://identifiers.org/snomedct/56819008 property_value: exactMatch NCIT:C34582 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000589 "endocarditis (disease)" xsd:string [Term] id: EFO:0000466 name: endometrioid carcinoma def: "An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament." [NCIT:C3769] synonym: "endometrioid adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "endometrioid adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "endometrioid adenocarcinoma" EXACT [NCIT:C3769] synonym: "endometrioid carcinoma" EXACT [NCIT:C3769] synonym: "endometrioid carcinoma of female reproductive system" EXACT [NCIT:C3769] synonym: "endometrioid carcinoma of the female reproductive system" EXACT [NCIT:C3769] synonym: "female reproductive endometrioid carcinoma" EXACT [NCIT:C3769] xref: EFO:0000466 {source="MONDO:equivalentTo"} xref: ICDO:8380/3 {source="NCIT:C3769"} xref: MONDO:0005026 xref: NCIT:C3769 {source="EFO:0000466", source="MONDO:equivalentTo"} xref: UMLS:C0206687 {source="MONDO:equivalentTo", source="NCIT:C3769"} xref: UMLS:C1569637 {source="MONDO:equivalentTo"} is_a: EFO:0000228 {source="MONDO:equivalentTo", source="NCIT:C3769"} ! adenocarcinoma is_a: EFO:1001331 {source="NCIT:C3769"} ! Genital neoplasm, female relationship: EFO:0000784 UBERON:0000474 ! has_disease_location female reproductive system property_value: closeMatch http://identifiers.org/mesh/D018269 property_value: closeMatch http://identifiers.org/snomedct/30289006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206687 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206687 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1569637 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1569637 property_value: exactMatch NCIT:C3769 property_value: exactMatch NCIT:C3769 [Term] id: EFO:0000468 name: obsolete_environment def: "The external elements and conditions which surround, influence, and affect the life and development of an organism or population." [] comment: Synonym of environmental factor property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000469 name: environmental factor def: "The external elements and conditions which surround, influence, and affect the life and development of an organism or population." [] comment: This should become a material entity with the role of environment synonym: "environment factor" EXACT [] is_a: BFO:0000040 ! material entity relationship: RO:0001000 CL:0000765 ! derives_from erythroblast property_value: branch:class "true" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000470 name: environmental stress treatment def: "Environmental stress is a treatment where some aspect of the environment is perturbed in order to stress the organism or culture, e.g. change in temperature, change in watering regime" [] synonym: "environmental stress" EXACT [] synonym: "EnvironmentalStress" EXACT [] xref: MO:227 is_a: EFO:0000727 ! treatment property_value: IAO:0000112 "change in temperature, change in watering regime" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000472 name: epigenetic factor is_a: IAO:0000030 ! information entity property_value: organizational:class "true" xsd:string [Term] id: EFO:0000473 name: epigenetic status def: "Epigenetic status describes the imprinting state of a sample. E.g. Loss of imprinting occurs in some tumour cells" [] is_a: EFO:0000472 ! epigenetic factor relationship: IAO:0000136 EFO:0004420 ! is_about genome property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000112 "Loss of imprinting occurs in some tumour cells" xsd:string property_value: organizational:class "true" xsd:string [Term] id: EFO:0000474 name: epilepsy def: "A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions." [NCIT:P378] def: "A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy) (MeSH)." [] def: "A disorder characterized by recurrent seizures" [] synonym: "[X]Other epilepsy" EXACT [] synonym: "[X]Other epilepsy (disorder)" EXACT [] synonym: "EF - Epileptic fit" EXACT [] synonym: "EP - Epilepsy" EXACT [] synonym: "Epilectic attack, NOS" EXACT [] synonym: "EPILEP NEC W/O INTR EPIL" EXACT [] synonym: "EPILEP NOS W/O INTR EPIL" EXACT [] synonym: "epilepsy" EXACT [] {comment="preferred label from MONDO"} synonym: "Epilepsy (disorder)" EXACT [] synonym: "Epilepsy and recurrent seizures" EXACT [] synonym: "EPILEPSY NEC W INTR EPIL" EXACT [] synonym: "Epilepsy NOS" EXACT [] synonym: "Epilepsy NOS (disorder)" EXACT [] synonym: "EPILEPSY NOS W INTR EPIL" EXACT [] synonym: "Epilepsy, NOS" EXACT [] synonym: "Epilepsy, unspecified" EXACT [] synonym: "Epilepsy, unspecified, with intractable epilepsy" EXACT [] synonym: "Epilepsy, unspecified, without mention of intractable epilepsy" EXACT [] synonym: "Epileptic" EXACT [] synonym: "Epileptic attack" EXACT [] synonym: "Epileptic attack, NOS" EXACT [] synonym: "Epileptic convulsions" EXACT [] synonym: "Epileptic convulsions, NOS" EXACT [] synonym: "Epileptic disorder" EXACT [] synonym: "Epileptic disorder, NOS" EXACT [] synonym: "Epileptic fit" EXACT [] synonym: "Epileptic fits" EXACT [] synonym: "Epileptic fits, NOS" EXACT [] synonym: "Epileptic Seizure" EXACT [] synonym: "Epileptic seizure (finding)" EXACT [] synonym: "Epileptic seizures" EXACT [] synonym: "Epileptic seizures, NOS" EXACT [] synonym: "Generalised convulsion" EXACT [] synonym: "Generalised fit" EXACT [] synonym: "Generalised seizure" EXACT [] synonym: "Generalized convulsion" EXACT [] synonym: "Generalized fit" EXACT [] synonym: "Generalized seizure" EXACT [] synonym: "Generalized seizure (finding)" EXACT [] synonym: "Other forms of epilepsy" EXACT [] synonym: "Other forms of epilepsy (disorder)" EXACT [] synonym: "Other forms of epilepsy and recurrent seizures" EXACT [] synonym: "Other forms of epilepsy NOS" EXACT [] synonym: "Other forms of epilepsy NOS (disorder)" EXACT [] synonym: "Other forms of epilepsy, with intractable epilepsy" EXACT [] synonym: "Other forms of epilepsy, without mention of intractable epilepsy" EXACT [] synonym: "Seizure disorder" EXACT [] synonym: "seizure disorder" EXACT [NCIT:C3020] synonym: "Seizure disorder (disorder)" EXACT [] xref: DOID:1826 {source="MONDO:equivalentTo"} xref: ICD10:G40 xref: ICD10CM:G40 {source="MONDO:equivalentTo"} xref: ICD10WHO:G40 {source="MONDO:equivalentTo"} xref: ICD9:345 {source="EFO:0000474"} xref: ICD9:345.8 {source="EFO:0000474"} xref: ICD9:345.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:345.9 {source="EFO:0000474", source="DOID:1826"} xref: ICD9:345.90 {source="EFO:0000474", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:345.91 {source="EFO:0000474"} xref: MedDRA:10015037 xref: MedDRA:10015046 xref: MedDRA:10015047 xref: MedDRA:10015048 xref: MedDRA:10015052 xref: MESH:D004827 {source="EFO:0000474", source="MONDO:equivalentTo", source="DOID:1826"} xref: MeSH:D004827 xref: MONDO:0005027 xref: NCIT:C3020 {source="EFO:0000474", source="MONDO:equivalentTo", source="DOID:1826"} xref: NCIt:C3020 xref: NIFSTD:birnlex_12718 {source="EFO:0000474"} xref: SCTID:84757009 {source="EFO:0000474", source="MONDO:equivalentTo", source="DOID:1826"} xref: SNOMEDCT:84757009 is_a: EFO:0005774 {source="DOID:1826", source="MESH:D004827"} ! brain disease relationship: EFO:0000784 UBERON:0000955 ! has_disease_location brain property_value: exactMatch DOID:1826 property_value: exactMatch http://identifiers.org/mesh/D004827 property_value: exactMatch http://identifiers.org/snomedct/84757009 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G40 property_value: exactMatch https://icd.who.int/browse10/2019/en#/G40 property_value: exactMatch NCIT:C3020 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000476 name: obsolete_epithelial cell of lung xref: CL:0000082 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.9" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "compound term epithelial cell + lung" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000478 name: esophageal adenocarcinoma def: "A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus. Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported. Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas. Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. The prognosis is poor." [NCIT:C4025] subset: ordo_disease {source="Orphanet:99976"} synonym: "adenocarcinoma - esophagus" EXACT [NCIT:C4025] synonym: "adenocarcinoma - oesophagus" EXACT OMO:0003005 [] synonym: "adenocarcinoma of esophagus" EXACT [DOID:4914, MONDO:0020565, NCIT:C4025] synonym: "adenocarcinoma of oesophagus" EXACT OMO:0003005 [] synonym: "adenocarcinoma of the esophagus" EXACT [NCIT:C4025] synonym: "adenocarcinoma of the oesophagus" EXACT OMO:0003005 [] synonym: "EAC" EXACT [] synonym: "esophageal adenocarcinoma" EXACT [NCIT:C4025, Orphanet:99976] synonym: "esophageal adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "esophageal adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "esophagus adenocarcinoma" EXACT [MONDO:0003201, MONDO:patterns/location, NCIT:C4025] synonym: "oesophageal adenocarcinoma" EXACT [DOID:4914] synonym: "oesophagus adenocarcinoma" EXACT OMO:0003005 [] xref: DOID:4914 {source="MONDO:equivalentTo", source="EFO:0000478"} xref: DOID:4914 {source="MONDO:equivalentTo", source="MONDO:superClassOf", source="EFO:0000478"} xref: EFO:0000478 {source="MONDO:equivalentTo"} xref: ICD10:C15.2 {source="Orphanet:99976", source="ORDO:99976/btnt"} xref: ICD10:C15.5 {source="Orphanet:99976", source="ORDO:99976/btnt"} xref: MONDO:0005028 xref: NCIT:C4025 {source="MONDO:equivalentTo", source="EFO:0000478", source="DOID:4914"} xref: OMIM:109350 xref: ONCOTREE:ESCA {source="MONDO:equivalentTo"} xref: Orphanet:99976 {source="MONDO:equivalentTo"} xref: SCTID:276803003 {source="MONDO:equivalentTo", source="EFO:0000478", source="DOID:4914"} xref: UMLS:C0279628 {source="Orphanet:99976", source="MONDO:equivalentTo", source="NCIT:C4025", source="DOID:4914"} is_a: EFO:0000228 {source="EFO:0000478", source="MONDO:Redundant", source="NCIT:C4025"} ! adenocarcinoma is_a: EFO:0002916 {source="DOID:4914", source="MONDO:Redundant", source="NCIT:C4025", source="Orphanet:99976"} ! esophageal carcinoma relationship: EFO:0000784 EFO:0000405 ! has_disease_location digestive system disease relationship: EFO:0000784 UBERON:0001043 ! has_disease_location esophagus property_value: closeMatch http://identifiers.org/mesh/C562730 property_value: exactMatch DOID:4914 property_value: exactMatch DOID:4914 property_value: exactMatch http://identifiers.org/snomedct/276803003 property_value: exactMatch http://identifiers.org/snomedct/276803003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279628 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279628 property_value: exactMatch NCIT:C4025 property_value: exactMatch NCIT:C4025 property_value: exactMatch Orphanet:99976 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/adenocarcinoma.yaml [Term] id: EFO:0000479 name: essential thrombocythemia def: "A chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage. (WHO, 2008)" [https://github.com/monarch-initiative/mondo/issues/230, NCIT:C3407] subset: gard_rare {source="GARD:0006594"} subset: ordo_disease {source="Orphanet:3318"} synonym: "essential thrombocytemia" EXACT [NCIT:C3407] synonym: "essential thrombocythaemia" EXACT [DOID:2224] synonym: "essential thrombocythemia" EXACT [] {comment="preferred label from MONDO"} synonym: "essential thrombocythemia" EXACT [NCIT:C3407] synonym: "essential thrombocythemia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "essential thrombocytosis" EXACT [NCIT:C3407, Orphanet:3318] synonym: "ET" BROAD ABBREVIATION [NCIT:C3407, Orphanet:3318] synonym: "hemorrhagic thrombocythemia" EXACT [DOID:2224] synonym: "idiopathic thrombocythemia" NARROW [GARD:0006594, NCIT:C3407] synonym: "primary thrombocythemia" EXACT [GARD:0006594, NCIT:C3407] synonym: "primary thrombocytosis" EXACT [DOID:2224, NCIT:C3407] xref: COHD:438383 {source="MONDO:equivalentTo"} xref: DOID:2224 {source="MONDO:equivalentTo", source="EFO:0000479"} xref: EFO:0000479 {source="MONDO:equivalentTo"} xref: GARD:0006594 {source="MONDO:equivalentTo"} xref: ICD10:D47.3 {source="DOID:2224", source="Orphanet:3318", source="ORDO:3318/e"} xref: ICD9:238.71 {source="DOID:2224", source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0000479"} xref: ICD9:238.71 {source="DOID:2224", source="MONDO:equivalentTo", source="EFO:0000479", source="i2s"} xref: ICDO:9962/3 {source="NCIT:C3407"} xref: MedDRA:10015493 {source="Orphanet:3318", source="ORDO:3318/e"} xref: MedDRA:10015493 {source="Orphanet:3318", source="Orphanet:3318/e"} xref: MESH:D013920 {source="DOID:2224", source="MONDO:equivalentTo", source="EFO:0000479", source="Orphanet:3318", source="ORDO:3318/e"} xref: MESH:D013920 {source="DOID:2224", source="MONDO:equivalentTo", source="EFO:0000479", source="Orphanet:3318", source="Orphanet:3318/e"} xref: MONDO:0005029 xref: NCIT:C3407 {source="DOID:2224", source="MONDO:equivalentTo", source="EFO:0000479", source="exact-label-match"} xref: NCIT:C3407 {source="DOID:2224", source="MONDO:equivalentTo", source="EFO:0000479", source="MONDO:exact-label-match"} xref: OMIM:187950 xref: OMIM:601977 xref: OMIM:614521 xref: ONCOTREE:ET {source="MONDO:equivalentTo"} xref: Orphanet:3318 {source="DOID:2224", source="MONDO:equivalentTo"} xref: Orphanet:71493 {source="MONDO:relatedTo", source="DOID:2224"} xref: SCTID:109994006 {source="DOID:2224", source="MONDO:equivalentTo", source="EFO:0000479"} xref: UMLS:C0040028 {source="NCIT:C3407", source="DOID:2224", source="MONDO:equivalentTo", source="Orphanet:3318", source="ORDO:3318/e"} xref: UMLS:C0040028 {source="NCIT:C3407", source="DOID:2224", source="MONDO:equivalentTo", source="Orphanet:3318", source="Orphanet:3318/e"} is_a: EFO:0002428 {source="DOID:2224", source="EFO:0000479", source="MONDO:Redundant", source="NCIT:C3407", source="ONCOTREE:ET", source="Orphanet:3318"} ! chronic myeloproliferative disorder is_a: EFO:0004251 ! myeloproliferative disorder is_a: MONDO:0002249 {source="https://orcid.org/0000-0002-4142-7153"} ! thrombocytosis disease is_a: MONDO:0019111 ! familial thrombocytosis is_a: MONDO:0023603 ! hereditary disorder of connective tissue property_value: closeMatch http://identifiers.org/meddra/10015493 property_value: closeMatch http://identifiers.org/snomedct/128844009 property_value: closeMatch http://identifiers.org/snomedct/189508006 property_value: closeMatch http://identifiers.org/snomedct/189513005 property_value: closeMatch http://identifiers.org/snomedct/189514004 property_value: closeMatch http://identifiers.org/snomedct/191333009 property_value: closeMatch http://identifiers.org/snomedct/234499005 property_value: closeMatch http://identifiers.org/snomedct/307652003 property_value: closeMatch http://identifiers.org/snomedct/65471002 property_value: exactMatch DOID:2224 property_value: exactMatch DOID:2224 property_value: exactMatch http://identifiers.org/meddra/10015493 property_value: exactMatch http://identifiers.org/mesh/D013920 property_value: exactMatch http://identifiers.org/mesh/D013920 property_value: exactMatch http://identifiers.org/snomedct/109994006 property_value: exactMatch http://identifiers.org/snomedct/109994006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040028 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040028 property_value: exactMatch NCIT:C3407 property_value: exactMatch NCIT:C3407 property_value: exactMatch Orphanet:3318 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/230 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6594/essential-thrombocythemia xsd:anyURI {source="GARD:0006594"} [Term] id: EFO:0000480 name: event death def: "An event that has caused the permanent cessation of all vital functions; the end of life. Can be applied to a whole organism or to a part of an organism." [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000481 name: obsolete_event distant metastases def: "A temporal measurement of an occurrence of a metastasis measured from some defined time point such as diagnosis" [] comment: candidate for deprecation property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "created as a synonym of distant metastasis survival." xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000412 [Term] id: EFO:0000482 name: event free survival time def: "Is the survival of a subject (or group of subjects) measured from the date of diagnosis until locoregional or systemic recurrence, second malignancy, or death from any cause or disease progression or relapse, institution of new unplanned anticancer treatment, or death from any cause." [] is_a: EFO:0000714 ! survival time property_value: definition:citation http://en.wikibooks.org/wiki/Radiation_Oncology/Survival_curve_terminology xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000483 name: exercise def: "Activity that requires physical or mental exertion, especially when performed to develop or maintain fitness." [] xref: MedDRA:10015634 xref: MeSH:D015444 xref: NCIt:C16567 xref: SNOMEDCT:256235009 is_a: EFO:0003940 ! physical activity property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000484 name: obsolete_experiment type def: "An experiment type is an experimental factor describing the area of technology that was used to perform an experiment." [] comment: This is no longer needed - use process or study design (if the design is for study). property_value: IAO:0000112 "ChIP-Chip array" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000485 name: obsolete_experimental design def: "experimental design refers to both observational and experimental (perturbational) studies. The organizing principles of the study including the relationships between assays and the steps taken to interpret the data." [] comment: obsolete - synonym with experiment type property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000487 name: exposure def: "The act of subjecting someone or something to an influencing experience. E.g. exposure to cigarette smoke" [] xref: ICD10:Z58 xref: NCIt:C17941 is_a: EFO:0002694 ! experimental process property_value: IAO:0000112 "exposure to cigarette smoke" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000488 name: external control ratio def: "Use of spiked in controls in a measurement of the spiked in external/internal ratio" [] is_a: EFO:0002658 ! protocol parameter property_value: organizational:class "true" xsd:string [Term] id: EFO:0000489 name: extra-adrenal sympathetic paraganglioma def: "A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland. Clinical symptoms are related to secretion of catecholamines. Representative examples include the superior and inferior paraaortic and bladder paragangliomas." [] def: "A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland. Clinical symptoms are related to secretion of catecholamines. Representative examples include the superior and inferior paraaortic and bladder paragangliomas." [NCIT:C48576] comment: Editor note: DO classifies as cancer but we treat as neutral synonym: "Extra-Adrenal Chromaffin Neoplasm" EXACT [] synonym: "extra-adrenal chromaffin neoplasm" EXACT [EFO:0000489, NCIT:C48576] synonym: "Extra-Adrenal Chromaffinoma" EXACT [] synonym: "extra-adrenal Chromaffinoma" EXACT [EFO:0000489, NCIT:C48576] synonym: "Extra-Adrenal Pheochromocytoma" EXACT [] synonym: "extra-adrenal pheochromocytoma" EXACT [EFO:0000489, NCIT:C48576] synonym: "extra-adrenal sympathetic paraganglioma" EXACT [NCIT:C48576] synonym: "extra-adrenal sympathetic paraganglioma" EXACT [] {comment="preferred label from MONDO"} synonym: "Extra-Adrenal Sympathetic Paraganglionic Neoplasm" EXACT [] synonym: "extra-adrenal sympathetic Paraganglionic neoplasm" EXACT [EFO:0000489, NCIT:C48576] synonym: "Extraadrenal Pheochromocytoma" EXACT [] synonym: "extraadrenal pheochromocytoma" EXACT [EFO:0000489, NCIT:C48576] xref: DOID:0050936 {source="MONDO:equivalentTo"} xref: MONDO:0000550 xref: NCIT:C48576 {source="MONDO:equivalentTo"} xref: NCIt:C48576 xref: UMLS:C1257877 {source="MONDO:equivalentTo", source="NCIT:C48576"} is_a: MONDO:0021072 {source="NCIT:C48576"} ! sympathetic paraganglioma relationship: EFO:0000784 UBERON:0000013 ! has_disease_location sympathetic nervous system property_value: exactMatch DOID:0050936 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1257877 property_value: exactMatch NCIT:C48576 property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000490 name: extraction protocol def: "The procedure used to obtain something from a mixture or compound by chemical or physical or mechanical means, e.g. DNA/RNA extraction" [] is_a: OBI:0000272 ! protocol property_value: IAO:0000112 "DNA/RNA extraction" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000491 name: obsolete_facioscapulohumeral muscular dystrophy def: "An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420)" [] synonym: "Atrophies, Facioscapulohumeral" EXACT [] synonym: "Atrophy, Facioscapulohumeral" EXACT [] synonym: "Dystrophies, Facioscapulohumeral Muscular" EXACT [] synonym: "Dystrophies, Landouzy-Dejerine" EXACT [] synonym: "Dystrophy, Facioscapulohumeral Muscular" EXACT [] synonym: "Dystrophy, Landouzy-Dejerine" EXACT [] synonym: "Facioscapulohumeral Atrophies" EXACT [] synonym: "Facioscapulohumeral Atrophy" EXACT [] synonym: "Facioscapulohumeral Muscular Dystrophies" EXACT [] synonym: "Facioscapulohumeral muscular dystrophy (disorder)" EXACT [] synonym: "Facioscapulohumeral Type Progressive Muscular Dystrophy" EXACT [] synonym: "Fascioscapulohumeral muscular dystrophy" EXACT [] synonym: "FMD - Facioscapulohumeral muscular dystrophy" EXACT [] synonym: "FSH - Facioscapulohumeral muscular dystrophy" EXACT [] synonym: "FSHD - Facioscapulohumeral muscular dystrophy" EXACT [] synonym: "Landouzy Dejerine Dystrophy" EXACT [] synonym: "Landouzy Dejerine muscular dystrophy" EXACT [] synonym: "Landouzy-Dejerine Dystrophies" EXACT [] synonym: "Landouzy-Dejerine Dystrophy" EXACT [] synonym: "Landouzy-Dejerine muscular dystrophy" EXACT [] synonym: "Muscular Dystrophies, Facioscapulohumeral" EXACT [] synonym: "Muscular Dystrophy, Facioscapulohumeral" EXACT [] synonym: "Muscular dystrophy, Landouzy-Dejerine" EXACT [] synonym: "Progressive Muscular Dystrophy, Facioscapulohumeral Type" EXACT [] xref: DOID:11727 xref: MeSH:D020391 xref: OMIM:158900 xref: SNOMEDCT:399091004 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_269' instead.\nNew Label : Facioscapulohumeral dystrophy" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_269 [Term] id: EFO:0000492 name: obsolete_familial combined hyperlipidemia def: "A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma CHOLESTEROL and/or TRIGLYCERIDES. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (UPSTREAM STIMULATORY FACTORS) on CHROMOSOME 1." [] synonym: "Combined Hyperlipidemia, Familial" EXACT [] synonym: "Combined Hyperlipidemias, Familial" EXACT [] synonym: "Familial combined hyperlipidaemia" EXACT [] synonym: "familial combined hyperlipidemia (disorder)" EXACT [] synonym: "familial combined hyperlipidemia (disorder) [Ambiguous]" EXACT [] synonym: "Familial Combined Hyperlipidemias" EXACT [] synonym: "Familial hyperlipoproteinaemia type IIb" EXACT [] synonym: "Familial hyperlipoproteinemia type IIb" EXACT [] synonym: "Familial multiple lipoprotein-type hyperlipidaemia" EXACT [] synonym: "Familial multiple lipoprotein-type hyperlipidemia" EXACT [] synonym: "familial multiple lipoprotein-type hyperlipidemia (disorder)" EXACT [] synonym: "FCHL - Familial combined hyperlipidaemia" EXACT [] synonym: "FCHL - Familial combined hyperlipidemia" EXACT [] synonym: "Fredrickson type IIb hyperlipoproteinaemia" EXACT [] synonym: "Fredrickson type IIb hyperlipoproteinemia" EXACT [] synonym: "Hyperapobetalipoproteinaemia" EXACT [] synonym: "Hyperapobetalipoproteinemia" EXACT [] synonym: "hyperbetalipoproteinemia with prebetalipoproteinemia" EXACT [] synonym: "Hyperlipidemia, Familial Combined" EXACT [] synonym: "Hyperlipidemia, Multiple Lipoprotein Type" EXACT [] synonym: "Hyperlipidemia, Multiple Lipoprotein-Type" EXACT [] synonym: "Hyperlipidemias, Familial Combined" EXACT [] synonym: "Hyperlipidemias, Multiple Lipoprotein-Type" EXACT [] synonym: "Lipoprotein-Type Hyperlipidemia, Multiple" EXACT [] synonym: "Lipoprotein-Type Hyperlipidemias, Multiple" EXACT [] synonym: "Mixed hyperlipidaemia" EXACT [] synonym: "Mixed hyperlipidemia" EXACT [] synonym: "Mixed hyperlipidemia (disorder)" EXACT [] synonym: "Multiple Lipoprotein-Type Hyperlipidemia" EXACT [] synonym: "Multiple Lipoprotein-Type Hyperlipidemias" EXACT [] synonym: "Multiple-type hyperlipidaemia" EXACT [] synonym: "Multiple-type hyperlipidemia" EXACT [] synonym: "type IIb hyperlipoproteinemia" EXACT [] xref: DOID:13809 xref: ICD9:272.2 xref: MeSH:D006950 xref: OMIM:144250 xref: SNOMEDCT:238040008 xref: SNOMEDCT:267434003 xref: SNOMEDCT:299465007 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.33" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate of class http://www.orpha.net/ORDO/Orphanet_79211" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_79211 [Term] id: EFO:0000493 name: family history def: "Family history is a form of clinicaly history specifically about relevant aspects of genetic preconditions or family member's clinical history." [] synonym: "FamilyHistory" EXACT [] xref: ICD10:Z84 xref: MO:59 is_a: EFO:0000352 ! clinical history property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000494 name: feature extraction def: "The process of obtaining quantifiable values from the scanned image of the array. Exact synonyms: image analysis, image quantification" [] synonym: "feature_extraction" EXACT [] xref: MO:928 is_a: OBI:0200000 ! data transformation property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000495 name: fetal growth restriction def: "A fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age." [NCIT:P378] comment: Editor note: check if should be a disease synonym: "FET GROWTH RET 2500+G" EXACT [] synonym: "FET GROWTH RET 500-749G" EXACT [] synonym: "FET GROWTH RET 750-999G" EXACT [] synonym: "FET GROWTH RETARD <500G" EXACT [] synonym: "FET GROWTH RETARD WTNOS" EXACT [] synonym: "FET GRWTH RET 1000-1249G" EXACT [] synonym: "FET GRWTH RET 1250-1499G" EXACT [] synonym: "FET GRWTH RET 1500-1749G" EXACT [] synonym: "FET GRWTH RET 1750-1999G" EXACT [] synonym: "FET GRWTH RET 2000-2499G" EXACT [] synonym: "fetal growth restriction" EXACT [] {comment="preferred label from MONDO"} synonym: "Fetal Growth Retardation" EXACT [] synonym: "fetal Growth retardation" EXACT [NCIT:C114875] synonym: "fetal growth retardation" EXACT [NCIT:C114875] synonym: "Fetal growth retardation (disorder)" EXACT [] synonym: "Fetal growth retardation NOS" EXACT [] synonym: "Fetal growth retardation NOS (disorder)" EXACT [] synonym: "Fetal growth retardation, NOS" EXACT [] synonym: "Fetal growth retardation, unspecified" EXACT [] synonym: "Fetal growth retardation, unspecified [weight]" EXACT [] synonym: "Fetal growth retardation, unspecified, 1,000-1,249 grams" EXACT [] synonym: "Fetal growth retardation, unspecified, 1,250-1,499 grams" EXACT [] synonym: "Fetal growth retardation, unspecified, 1,500-1,749 grams" EXACT [] synonym: "Fetal growth retardation, unspecified, 1,750-1,999 grams" EXACT [] synonym: "Fetal growth retardation, unspecified, 2,000-2,499 grams" EXACT [] synonym: "Fetal growth retardation, unspecified, 2,500+ grams" EXACT [] synonym: "Fetal growth retardation, unspecified, 500-749 grams" EXACT [] synonym: "Fetal growth retardation, unspecified, 750-999 grams" EXACT [] synonym: "Fetal growth retardation, unspecified, less than 500 grams" EXACT [] synonym: "fetal SGA" EXACT [NCIT:C114875] synonym: "fetal small for gestational Age" EXACT [NCIT:C114875] synonym: "fetus small for gestational Age" EXACT [NCIT:C114875] synonym: "FGR" EXACT [] synonym: "FGR - Fetal growth retardation" EXACT [] synonym: "foetal Growth retardation" EXACT OMO:0003005 [] synonym: "foetal growth retardation" EXACT OMO:0003005 [] synonym: "Foetal growth retardation, NOS" EXACT [] synonym: "foetal SGA" EXACT OMO:0003005 [] synonym: "foetal small for gestational Age" EXACT OMO:0003005 [] synonym: "foetus small for gestational Age" EXACT OMO:0003005 [] synonym: "intrauterine Growth restriction" EXACT [NCIT:C114875] synonym: "Intrauterine growth retardation" EXACT [] synonym: "intrauterine Growth retardation" EXACT [NCIT:C114875] synonym: "Intrauterine growth retardation, NOS" EXACT [] synonym: "IUGR" EXACT ABBREVIATION [NCIT:C114875] synonym: "IUGR - Intrauterine growth retardation" EXACT [] synonym: "Microsomia" EXACT [] synonym: "Microsomic baby" EXACT [] synonym: "Poor fetal growth" EXACT [] synonym: "Poor fetal growth state" EXACT [] xref: ICD9:764.9 {source="EFO:0000495"} xref: ICD9:764.90 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:764.91 {source="EFO:0000495", source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:764.92 {source="EFO:0000495"} xref: ICD9:764.93 {source="EFO:0000495", source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:764.94 {source="EFO:0000495", source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:764.95 {source="EFO:0000495", source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:764.96 {source="EFO:0000495", source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:764.97 {source="EFO:0000495", source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:764.98 {source="EFO:0000495", source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:764.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10070532 xref: MESH:D005317 {source="EFO:0000495", source="MONDO:equivalentTo"} xref: MeSH:D005317 xref: MONDO:0005030 xref: NCIT:C114875 {source="MONDO:equivalentTo"} xref: NCIt:C80083 xref: SCTID:22033007 {source="EFO:0000495", source="MONDO:equivalentTo"} xref: SNOMEDCT:22033007 is_a: EFO:0007441 {source="EFO:0000495"} ! placenta disease relationship: EFO:0000784 UBERON:0001987 ! has_disease_location placenta property_value: exactMatch http://identifiers.org/mesh/D005317 property_value: exactMatch http://identifiers.org/snomedct/22033007 property_value: exactMatch NCIT:C114875 property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000497 name: fibromatosis def: "A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern." [NCIT:C3042] synonym: "fibromatosis" EXACT [NCIT:C3042] synonym: "fibromatosis" EXACT [] {comment="preferred label from MONDO"} synonym: "fibromatosis" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:0000497 {source="MONDO:equivalentTo"} xref: GARD:0006439 {source="MONDO:equivalentTo"} xref: MONDO:0005031 xref: NCIT:C3042 {source="EFO:0000497", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C3042 {source="EFO:0000497", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: OMIM:135290 xref: SCTID:723976005 {source="MONDO:equivalentTo"} is_a: EFO:1000255 {source="NCIT:C3042"} ! Fibroblastic Neoplasm property_value: closeMatch http://identifiers.org/snomedct/19928005 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0016048 property_value: exactMatch http://identifiers.org/snomedct/723976005 property_value: exactMatch http://identifiers.org/snomedct/723976005 property_value: exactMatch NCIT:C3042 property_value: exactMatch NCIT:C3042 [Term] id: EFO:0000499 name: follicular thyroid adenoma def: "A benign, encapsulated tumor, arising from the follicular cells of the thyroid gland. It may be associated with thyroid hormone secretion but it does not have malignant characteristics." [NCIT:C3502] synonym: "adenoma of the thyroid" EXACT [NCIT:C3502] synonym: "adenoma of the thyroid gland" EXACT [NCIT:C3502] synonym: "adenoma of thyroid" EXACT [NCIT:C3502] synonym: "adenoma of thyroid gland" EXACT [DOID:2891, NCIT:C3502] synonym: "adenoma of thyroid gland" EXACT [NCIT:C3502] synonym: "adenoma, follicular cell, benign" EXACT [NCIT:C3502] synonym: "follicular adenoma" EXACT [NCIT:C3502] synonym: "follicular adenoma (morphologic abnormality)" EXACT [DOID:6204] synonym: "follicular adenoma of the thyroid" EXACT [NCIT:C3502] synonym: "follicular adenoma of the thyroid gland" EXACT [DOID:6204, NCIT:C3502, NCIT:C3684] synonym: "follicular adenoma of thyroid" EXACT [NCIT:C3502] synonym: "follicular adenoma of thyroid gland" EXACT [NCIT:C3502] synonym: "follicular thyroid adenoma" EXACT [MONDO:0003807] synonym: "follicular thyroid adenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "follicular thyroid adenoma" EXACT [] {comment="preferred label from MONDO"} synonym: "thyroid adenoma" EXACT [NCIT:C3502] synonym: "thyroid adenoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "thyroid follicle adenoma" EXACT [] synonym: "thyroid follicular adenoma" EXACT [NCIT:C3502] synonym: "thyroid gland adenoma" EXACT [MONDO:patterns/location, NCIT:C3502] synonym: "thyroid gland adenoma" EXACT [NCIT:C3502] synonym: "thyroid gland follicular adenoma" EXACT [NCIT:C3502] xref: DOID:2891 {source="MONDO:equivalentTo"} xref: DOID:6204 {source="MONDO:equivalentTo"} xref: EFO:0000499 {source="MONDO:equivalentTo"} xref: HP:0000854 {source="MONDO:otherHierarchy"} xref: ICDO:8330/0 {source="NCIT:C3502"} xref: MONDO:0005032 xref: NCIT:C3502 {source="DOID:2891", source="EFO:0000499", source="MONDO:equivalentTo"} xref: NCIT:C3502 {source="EFO:0000499", source="MONDO:equivalentTo"} xref: SCTID:255033000 {source="DOID:2891", source="MONDO:equivalentTo"} xref: SCTID:255034006 {source="DOID:2891", source="EFO:0000499", source="MONDO:equivalentTo"} xref: SCTID:255034006 {source="EFO:0000499", source="MONDO:equivalentTo"} xref: UMLS:C0151468 {source="DOID:2891", source="MONDO:equivalentTo", source="NCIT:C3502"} xref: UMLS:C0205647 {source="DOID:6204", source="MONDO:equivalentTo"} xref: UMLS:C0205647 {source="DOID:6204", source="MONDO:equivalentTo", source="MONDO:preferedExternal"} is_a: EFO:0000232 {source="DOID:2891", source="MONDO:Redundant"} ! adenoma is_a: EFO:1000122 {source="MONDO:Redundant", source="NCIT:C3502"} ! Benign Thyroid Gland Neoplasm is_a: MONDO:0036976 ! benign epithelial neoplasm relationship: EFO:0000784 UBERON:0002046 ! has_disease_location thyroid gland property_value: closeMatch http://identifiers.org/snomedct/21930005 property_value: closeMatch http://identifiers.org/snomedct/27230006 property_value: closeMatch http://identifiers.org/snomedct/55021007 property_value: closeMatch http://identifiers.org/snomedct/77653004 property_value: closeMatch http://identifiers.org/snomedct/79494009 property_value: closeMatch http://identifiers.org/snomedct/86143001 property_value: exactMatch DOID:2891 property_value: exactMatch DOID:6204 property_value: exactMatch DOID:6204 property_value: exactMatch http://identifiers.org/snomedct/255033000 property_value: exactMatch http://identifiers.org/snomedct/255034006 property_value: exactMatch http://identifiers.org/snomedct/255034006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151468 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205647 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205647 property_value: exactMatch NCIT:C3502 property_value: exactMatch NCIT:C3502 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/adenoma.yaml property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5166 xsd:anyURI property_value: IAO:0000589 "thyroid adenoma (disease)" xsd:string [Term] id: EFO:0000500 name: ganglioneuroma def: "A benign neuroblastic tumor of the sympathetic nervous system that occurs in childhood. Ganglioneuroma typically arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. Common presenting features include a palpable abdominal mass, hepatomegaly, and a thoracic mass detected on routine chest X-ray." [NCIT:C3049] subset: ordo_disease {source="Orphanet:251992"} synonym: "ganglioneuroma" EXACT [] {comment="preferred label from MONDO"} synonym: "ganglioneuroma" EXACT [MONDO:ambiguous, NCIT:C3049] synonym: "ganglioneuroma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "ganglioneuroma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "ganglioneuroma (Schwannian Stroma-dominant)" EXACT [NCIT:C3049] synonym: "ganglioneuroma, benign" EXACT [NCIT:C3049] synonym: "GN" RELATED ABBREVIATION [ONCOTREE:GN] synonym: "neural Crest tumor, benign" EXACT [NCIT:C3049] xref: DOID:4817 {source="MONDO:equivalentTo", source="EFO:0000500"} xref: EFO:0000500 {source="MONDO:equivalentTo"} xref: HP:0003005 {source="MONDO:otherHierarchy"} xref: ICD10:D36.1 {source="ORDO:251992/ntbt", source="Orphanet:251992"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9490/0 {source="NCIT:C3049"} xref: MedDRA:10017709 {source="ORDO:251992/e", source="Orphanet:251992"} xref: MedDRA:10017709 {source="Orphanet:251992", source="Orphanet:251992/e"} xref: MESH:D005729 {source="EFO:0000500", source="MONDO:directSiblingOf"} xref: MONDO:0005033 xref: NCIT:C3049 {source="MONDO:equivalentTo", source="EFO:0000500"} xref: NIFSTD:birnlex_12617 {source="EFO:0000500"} xref: ONCOTREE:GN {source="MONDO:equivalentTo"} xref: Orphanet:251992 {source="MONDO:equivalentTo"} xref: SCTID:116371000119107 {source="MONDO:equivalentTo"} xref: UMLS:C0017075 {source="ORDO:251992/e", source="MONDO:equivalentTo", source="Orphanet:251992", source="NCIT:C3049"} xref: UMLS:C0017075 {source="MONDO:equivalentTo", source="Orphanet:251992", source="NCIT:C3049", source="Orphanet:251992/e"} is_a: EFO:1000393 {source="NCIT:C3049"} ! Neuroblastic Tumor is_a: MONDO:0000640 ! central nervous system primitive neuroectodermal neoplasm is_a: MONDO:0002366 {source="DOID:4817", source="MONDO:Redundant", source="NCIT:C3049"} ! autonomic nervous system neoplasm is_a: MONDO:0016729 {source="Orphanet:251992"} ! mixed neuronal-glial tumor is_a: MONDO:0021089 ! peripheral nervous system cancer is_a: MONDO:0044993 ! sympathetic nervous system disorder relationship: EFO:0000784 UBERON:0000013 ! has_disease_location sympathetic nervous system property_value: closeMatch http://identifiers.org/meddra/10017709 property_value: closeMatch http://identifiers.org/snomedct/53801007 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1513025 property_value: closeMatch NCIT:C42065 property_value: exactMatch DOID:4817 property_value: exactMatch DOID:4817 property_value: exactMatch http://identifiers.org/meddra/10017709 property_value: exactMatch http://identifiers.org/snomedct/116371000119107 property_value: exactMatch http://identifiers.org/snomedct/116371000119107 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017075 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017075 property_value: exactMatch NCIT:C3049 property_value: exactMatch NCIT:C3049 property_value: exactMatch Orphanet:251992 property_value: IAO:0000589 "ganglioneuroma (disease)" xsd:string [Term] id: EFO:0000501 name: follicular thyroid carcinoma def: "A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. The nuclear features which characterize the thyroid gland papillary carcinoma are absent. Radiation exposure is a risk factor and it comprises approximately 10% to 15% of thyroid cancers. Clinically, it usually presents as a solitary mass in the thyroid gland. It is generally unifocal and thickly encapsulated and shows invasion of the capsule or the vessels. Diagnostic procedures include thyroid ultrasound and fine needle biopsy." [NCIT:C8054] synonym: "carcinoma of thyroid follicle" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma, follicular cell, malignant" EXACT [NCIT:C8054] synonym: "follicular adenocarcinoma" EXACT [NCIT:C8054] synonym: "follicular adenocarcinoma" NARROW [NCIT:C8054] synonym: "follicular adenocarcinoma (morphologic abnormality)" EXACT [DOID:3962] synonym: "follicular adenocarcinoma (morphologic abnormality)" NARROW [DOID:3962] synonym: "follicular adenocarcinoma, well differentiated" EXACT [DOID:3962] synonym: "follicular adenocarcinoma, well differentiated" NARROW [DOID:3962] synonym: "follicular adenocarcinoma, well differentiated (morphologic abnormality)" EXACT [DOID:3962] synonym: "follicular adenocarcinoma, well differentiated (morphologic abnormality)" NARROW [DOID:3962] synonym: "follicular cancer of the thyroid" BROAD [NCIT:C8054] synonym: "follicular cancer of the thyroid" EXACT [NCIT:C8054] synonym: "follicular cancer of the thyroid gland" BROAD [NCIT:C8054] synonym: "follicular cancer of the thyroid gland" EXACT [NCIT:C8054] synonym: "follicular cancer of thyroid" BROAD [NCIT:C8054] synonym: "follicular cancer of thyroid" EXACT [NCIT:C8054] synonym: "follicular cancer of thyroid gland" BROAD [NCIT:C8054] synonym: "follicular cancer of thyroid gland" EXACT [NCIT:C8054] synonym: "follicular carcinoma" EXACT [DOID:3962, NCIT:C8054] synonym: "follicular carcinoma of the thyroid" EXACT [NCIT:C8054] synonym: "follicular carcinoma of the thyroid gland" EXACT [DOID:3962, NCIT:C8054] synonym: "follicular carcinoma of thyroid" EXACT [NCIT:C8054] synonym: "follicular carcinoma of thyroid gland" EXACT [NCIT:C8054] synonym: "follicular thyroid cancer" EXACT [NCIT:C8054] synonym: "follicular thyroid carcinoma" EXACT [MONDO:ambiguous, NCIT:C8054] synonym: "follicular thyroid gland carcinoma" EXACT [NCIT:C8054] synonym: "thyroid follicle carcinoma" EXACT [] synonym: "thyroid follicular carcinoma" EXACT [NCIT:C8054] synonym: "thyroid gland adenocarcinoma" EXACT [MONDO:patterns/location] synonym: "thyroid gland adenocarcinoma" NARROW [MONDO:patterns/location] synonym: "thyroid gland follicular cancer" BROAD [NCIT:C8054] synonym: "thyroid gland follicular cancer" EXACT [NCIT:C8054] synonym: "thyroid gland follicular carcinoma" EXACT [NCIT:C8054] synonym: "thyroid gland follicular carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "thyroid gland follicular carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "well-differentiated follicular adenocarcinoma" EXACT [NCIT:C8054] synonym: "well-differentiated follicular carcinoma" BROAD [NCIT:C8054] synonym: "well-differentiated follicular carcinoma" EXACT [NCIT:C8054] xref: DOID:3962 {source="MONDO:equivalentTo", source="EFO:0000501"} xref: EFO:0000501 {source="MONDO:equivalentTo"} xref: HP:0006731 {source="MONDO:otherHierarchy"} xref: ICDO:8330/3 {source="NCIT:C8054"} xref: ICDO:8331/3 {source="NCIT:C8054"} xref: MESH:D018263 {source="DOID:3962", source="MONDO:equivalentTo", source="EFO:0000501"} xref: MONDO:0005034 xref: NCIT:C27380 {source="EFO:0000501", source="MONDO:directSiblingOf"} xref: NCIT:C8054 {source="DOID:3962", source="MONDO:equivalentTo", source="EFO:0000501"} xref: OMIM:188470 xref: OMIM:607464 xref: OMIM:616534 xref: OMIM:616535 xref: ONCOTREE:THFO {source="MONDO:equivalentTo"} xref: SCTID:255028004 {source="DOID:3962", source="MONDO:equivalentTo", source="EFO:0000501"} is_a: EFO:1002017 {source="EFO:0000501", source="NCIT:C8054", source="ONCOTREE:THFO"} ! differentiated thyroid carcinoma is_a: MONDO:0024622 ! thyroid gland adenocarcinoma relationship: EFO:0000784 UBERON:0002046 ! has_disease_location thyroid gland property_value: closeMatch http://identifiers.org/snomedct/189642005 property_value: closeMatch http://identifiers.org/snomedct/28173006 property_value: closeMatch http://identifiers.org/snomedct/5257006 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0206682 property_value: exactMatch DOID:3962 property_value: exactMatch DOID:3962 property_value: exactMatch http://identifiers.org/mesh/D018263 property_value: exactMatch http://identifiers.org/mesh/D018263 property_value: exactMatch http://identifiers.org/snomedct/255028004 property_value: exactMatch http://identifiers.org/snomedct/255028004 property_value: exactMatch NCIT:C8054 property_value: exactMatch NCIT:C8054 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:0000502 name: ganglioneuroblastoma def: "A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular." [NCIT:C3790] subset: ordo_disease {source="Orphanet:251877"} synonym: "ganglioneuroblastoma" EXACT [] {comment="preferred label from MONDO"} synonym: "ganglioneuroblastoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "ganglioneuroblastoma" EXACT [MONDO:ambiguous, NCIT:C3790] synonym: "ganglioneuroblastoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "ganglioneuroblastoma (morphologic abnormality)" EXACT [DOID:4163] synonym: "ganglioneuroblastoma, malignant" EXACT [NCIT:C3790] xref: DOID:4163 {source="MONDO:equivalentTo", source="EFO:0000502"} xref: EFO:0000502 {source="MONDO:equivalentTo"} xref: HP:0006747 {source="MONDO:otherHierarchy"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9490/3 {source="NCIT:C3790"} xref: MedDRA:10017708 {source="Orphanet:251877/e", source="Orphanet:251877"} xref: MedDRA:10017708 {source="ORDO:251877/e", source="Orphanet:251877"} xref: MESH:D018305 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo", source="EFO:0000502", source="DOID:4163"} xref: MONDO:0005035 xref: NCIT:C3790 {source="MONDO:equivalentTo", source="EFO:0000502", source="DOID:4163"} xref: NIFSTD:birnlex_12633 {source="EFO:0000502"} xref: ONCOTREE:GNBL {source="MONDO:equivalentTo"} xref: Orphanet:251877 {source="MONDO:equivalentTo"} xref: SCTID:116381000119105 {source="MONDO:equivalentTo", source="DOID:4163"} xref: UMLS:C0206718 {source="NCIT:C3790", source="Orphanet:251877/e", source="MONDO:equivalentTo", source="DOID:4163", source="Orphanet:251877"} xref: UMLS:C0206718 {source="NCIT:C3790", source="MONDO:equivalentTo", source="ORDO:251877/e", source="DOID:4163", source="Orphanet:251877"} is_a: EFO:1000393 {source="NCIT:C3790"} ! Neuroblastic Tumor property_value: closeMatch http://identifiers.org/meddra/10017708 property_value: closeMatch http://identifiers.org/mesh/D018305 property_value: closeMatch http://identifiers.org/snomedct/69515008 property_value: exactMatch DOID:4163 property_value: exactMatch DOID:4163 property_value: exactMatch http://identifiers.org/meddra/10017708 property_value: exactMatch http://identifiers.org/mesh/D018305 property_value: exactMatch http://identifiers.org/snomedct/116381000119105 property_value: exactMatch http://identifiers.org/snomedct/116381000119105 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206718 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206718 property_value: exactMatch NCIT:C3790 property_value: exactMatch NCIT:C3790 property_value: exactMatch Orphanet:251877 property_value: excluded_subClassOf MONDO:0005072 {source="DOID:4163"} property_value: IAO:0000589 "ganglioneuroblastoma (disease)" xsd:string [Term] id: EFO:0000503 name: gastric adenocarcinoma def: "A carcinoma that arises from glandular epithelial cells of the stomach" [https://orcid.org/0000-0002-6601-2165] def: "A carcinoma that arises from glandular epithelial cells of the stomach" [MONDO:DesignPattern] synonym: "adenocarcinoma - stomach" EXACT [NCIT:C4004] synonym: "adenocarcinoma of stomach" EXACT [NCIT:C4004] synonym: "adenocarcinoma of the stomach" EXACT [NCIT:C4004] synonym: "gastric (stomach) adenocarcinoma" EXACT [NCIT:C4004] synonym: "gastric adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "gastric adenocarcinoma" EXACT [NCIT:C4004] synonym: "gastric adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "STAD" RELATED ABBREVIATION [ONCOTREE:STAD] synonym: "stomach adenocarcinoma" EXACT [DOID:3717, MONDO:patterns/location, NCIT:C4004] xref: DOID:3717 {source="MONDO:equivalentTo", source="EFO:0000503"} xref: EFO:0000503 {source="MONDO:equivalentTo"} xref: MONDO:0005036 xref: NCIT:C4004 {source="MONDO:equivalentTo", source="EFO:0000503", source="MONDO:exact-label-match", source="DOID:3717"} xref: NCIT:C4004 {source="MONDO:equivalentTo", source="EFO:0000503", source="DOID:3717", source="exact-label-match"} xref: ONCOTREE:STAD {source="MONDO:equivalentTo"} xref: Orphanet:464463 {source="MONDO:equivalentObsolete"} xref: SCTID:408647009 {source="MONDO:equivalentTo", source="EFO:0000503", source="DOID:3717"} xref: UMLS:C0278701 {source="MONDO:equivalentTo", source="NCIT:C4004", source="DOID:3717"} is_a: EFO:0000178 {source="DOID:3717", source="MONDO:Redundant", source="NCIT:C4004"} ! gastric carcinoma is_a: EFO:0000228 {source="DOID:3717", source="EFO:0000503", source="MONDO:Redundant", source="NCIT:C4004"} ! adenocarcinoma relationship: EFO:0000784 UBERON:0000945 ! has_disease_location stomach property_value: exactMatch DOID:3717 property_value: exactMatch DOID:3717 property_value: exactMatch http://identifiers.org/snomedct/408647009 property_value: exactMatch http://identifiers.org/snomedct/408647009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278701 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278701 property_value: exactMatch NCIT:C4004 property_value: exactMatch NCIT:C4004 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/adenocarcinoma.yaml [Term] id: EFO:0000504 name: gastric intestinal type adenocarcinoma def: "An adenocarcinoma of the stomach arising on a background of intestinal metaplasia. Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma. Grossly, it tends to be nodular, polypoid or ulcerated." [NCIT:P378] synonym: "gastric intestinal type adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "gastric intestinal type adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "gastric intestinal type adenocarcinoma" EXACT [NCIT:C9157] synonym: "gastric intestinal-type adenocarcinoma" EXACT [NCIT:C9157] synonym: "intestinal adenocarcinoma of stomach" EXACT [NCIT:C9157] synonym: "intestinal adenocarcinoma of the stomach" EXACT [NCIT:C9157] synonym: "intestinal gastric adenocarcinoma" EXACT [NCIT:C9157] synonym: "intestinal stomach adenocarcinoma" EXACT [NCIT:C9157] synonym: "intestinal type stomach adenocarcinoma" RELATED [ONCOTREE:ISTAD] xref: EFO:0000504 {source="MONDO:equivalentTo"} xref: MONDO:0005037 xref: NCIT:C9157 {source="MONDO:equivalentTo", source="EFO:0000504"} xref: ONCOTREE:ISTAD {source="MONDO:equivalentTo"} xref: UMLS:C0279633 {source="NCIT:C9157", source="MONDO:equivalentTo"} is_a: EFO:0000503 {source="MONDO:Redundant", source="NCIT:C9157/inferred", source="ONCOTREE:ISTAD"} ! gastric adenocarcinoma is_a: EFO:0007330 ! intestinal cancer is_a: EFO:1000304 {source="MONDO:Redundant", source="NCIT:C9157"} ! Intestinal Type Adenocarcinoma relationship: EFO:0000784 UBERON:0000160 ! has_disease_location intestine relationship: EFO:0000784 UBERON:0000945 ! has_disease_location stomach property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279633 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279633 property_value: exactMatch NCIT:C9157 property_value: exactMatch NCIT:C9157 [Term] id: EFO:0000505 name: obsolete_gastrointestinal stromal tumor def: "All tumors in the GASTROINTESTINAL TRACT arising from mesenchymal cells (MESODERM) except those of smooth muscle cells (LEIOMYOMA) or Schwann cells (SCHWANNOMA)." [] synonym: "GANT" EXACT [] synonym: "Gastrointestinal Stromal Neoplasm" EXACT [] synonym: "Gastrointestinal Stromal Neoplasms" EXACT [] synonym: "Gastrointestinal Stromal Sarcoma" EXACT [] synonym: "Gastrointestinal Stromal Tumors" EXACT [] synonym: "GIST" EXACT [] synonym: "Neoplasm, Gastrointestinal Stromal" EXACT [] synonym: "Neoplasms, Gastrointestinal Stromal" EXACT [] synonym: "Stromal Neoplasm, Gastrointestinal" EXACT [] synonym: "Stromal Neoplasms, Gastrointestinal" EXACT [] synonym: "Stromal tumor of Gastrointestinal tract" EXACT [] synonym: "Stromal Tumor, Gastrointestinal" EXACT [] synonym: "Stromal Tumors, Gastrointestinal" EXACT [] xref: DOID:9253 xref: MeSH:D046152 xref: OMIM:606764 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_44890' instead.\nNew Label : Gastrointestinal stromal tumor" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_44890 [Term] id: EFO:0000506 name: gene knock out synonym: "gene_knock_out" EXACT [] xref: MO:771 is_a: EFO:0000510 ! genetic modification property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string [Term] id: EFO:0000507 name: generation def: "The number of cell passages if the organism or organism part that is cultured is unicellular or a cell culture; otherwise the number of generations." [] comment: Quality? Is this intrinsic to the organism? xref: MO:43 xref: NCIt:C48151 xref: NCIt:C88214 is_a: BFO:0000019 ! quality property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000508 name: genetic disorder def: "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome." [MONDO:cjm] def: "A genetic disorder is a disorder in which an abnormality, i.e. mutation, of a gene or gene has occurred resulting in a diseased state. Note, this not imply that the disorder is hereditary since genetic mutations can occur during life time and are not always directly inherited or presented in parents (although they can be)." [] def: "Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." [] comment: Usage note: this is intended only for diseases with an inherited genetic etiology. Somatic genetic mutations are excluded. Some ontologies use the term 'genetic disease' in the sense of inherited disorders only, we are here careful to distinguish. subset: harrisons_view subset: rare_grouping synonym: "familial disorder" RELATED [] synonym: "genetic condition" BROAD [NCIT:C3101] synonym: "genetic disease" BROAD [] synonym: "genetic disease" EXACT [] synonym: "genetic disorder" BROAD [NCIT:C3101] synonym: "hereditary disease" EXACT [] {comment="preferred label from MONDO"} synonym: "hereditary disease" EXACT [MONDO:patterns/hereditary, NCIT:C3101] synonym: "hereditary disease or disorder" EXACT [MONDO:patterns/hereditary] synonym: "hereditary diseases" EXACT [NCIT:C3101] synonym: "inborn disorder" RELATED [] synonym: "inherited disease" EXACT [NCIT:C3101] synonym: "inherited genetic disease" EXACT [https://github.com/monarch-initiative/mondo/issues/1758] synonym: "Mendelian disease" NARROW [DOID:0050177] synonym: "molecular disease" EXACT [NCIT:C3101] xref: DOID:630 {source="MONDO:equivalentTo"} xref: ICD9:799.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D030342 {source="EFO:0000508", source="MONDO:equivalentTo", source="DOID:630"} xref: MeSH:D030342 xref: MONDO:0003847 xref: NCIT:C3101 {source="EFO:0000508", source="MONDO:equivalentTo", source="DOID:630"} xref: NCIt:C3101 xref: SCTID:32895009 {source="MONDO:equivalentTo", source="DOID:630"} xref: UMLS:C0019247 {source="EFO:0000508", source="MONDO:equivalentTo", source="NCIT:C3101", source="DOID:630"} is_a: EFO:0000408 ! disease disjoint_from: EFO:0001460 ! uninfected relationship: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch DOID:630 property_value: exactMatch http://identifiers.org/mesh/D030342 property_value: exactMatch http://identifiers.org/snomedct/32895009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019247 property_value: exactMatch NCIT:C3101 property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000509 name: obsolete_genetic factor xref: MO:557 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.17" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "No longer required as information entity, child class has been moved to process." xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000510 name: genetic modification def: "A genetic modification of the genome of an organism which may occur naturally by spontaneous mutation, or be introduced by some experimental means. Examples of genetic modification include specification of a transgene or the gene knocked-out or details of transient transfection." [] synonym: "genetic_modification" EXACT [] xref: MO:927 is_a: BFO:0000015 ! process relationship: OBI:0000299 BFO:0000040 ! has_output material entity property_value: IAO:0000112 "Examples of genetic modification include specification of a transgene or the gene knocked-out or details of transient transfection" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string [Term] id: EFO:0000511 name: genetic trait def: "Genetic traits are small inherited parts of the phenotype of an organism" [] is_a: BFO:0000019 ! quality property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000512 name: reproductive system disease def: "A disease involving the reproductive system." [https://orcid.org/0000-0002-6601-2165] def: "Any disease of the reproductive system." [] subset: rare_grouping synonym: "disease of reproductive system" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of reproductive system" EXACT [] synonym: "Disorder of reproductive system" EXACT [] synonym: "disorder of reproductive system" EXACT [MONDO:patterns/location_top, NCIT:C4875] synonym: "Disorder of reproductive system (disorder)" EXACT [] synonym: "genital disorders" EXACT [NCIT:C4875] synonym: "genital system disease" EXACT [DOID:15] synonym: "Non-neoplastic Reproductive system disease" EXACT [] synonym: "reproductive disease" EXACT [DOID:15] synonym: "reproductive system disease" EXACT [MONDO:patterns/location, NCIT:C4875] synonym: "reproductive system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "reproductive system disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "reproductive system disorder" EXACT [NCIT:C4875] xref: DOID:15 {source="MONDO:equivalentTo", source="EFO:0000512"} xref: MONDO:0005039 xref: NCIT:C4875 {source="MONDO:equivalentTo"} xref: SCTID:362968007 {source="MONDO:equivalentTo", source="EFO:0000512"} xref: SNOMEDCT:362968007 xref: UMLS:C0178829 {source="MONDO:equivalentTo", source="NCIT:C4875"} xref: Wikipedia:Reproductive_system_disease {source="EFO:0000512"} is_a: EFO:0000408 ! disease disjoint_from: EFO:0001460 ! uninfected property_value: exactMatch DOID:15 property_value: exactMatch http://identifiers.org/snomedct/362968007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0178829 property_value: exactMatch NCIT:C4875 property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000513 name: genotype def: "The total sum of the genetic information of an organism that is known and relevant to the experiment being performed, including chromosomal, plasmid, viral or other genetic material which has been introduced into the organism either prior to or during the experiment." [] comment: Information, making the distinction between the actual physical material (e.g. a cell) and the information about the genetic content (genotype). xref: MeSH:D005838 xref: MO:51 xref: NCIt:C16631 xref: NIFSTD:birnlex_2023 is_a: EFO:0004554 ! genomic measurement relationship: IAO:0000136 EFO:0004420 ! is_about genome property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000514 name: germ cell tumor def: "A benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." [NCIT:C3708] subset: gard_rare synonym: "germ cell cancer" RELATED [DOID:2994] synonym: "germ cell neoplasm" EXACT [CSP2005:2016-0850, DOID:2994, NCIT:C3708] synonym: "germ cell neoplasm" EXACT [DOID:2994, NCIT:C3708] synonym: "germ cell tumor" EXACT [DOID:2994, NCIT:C3708] synonym: "germ cell tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "germ cell tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "germ cell tumor" EXACT [NCIT:C3708] synonym: "germ cell tumour" RELATED [DOID:2994] synonym: "germ cells tumors" RELATED [GARD:0013022] synonym: "germ cells tumours" RELATED OMO:0003005 [] synonym: "malignant tumour of the germ cell" RELATED OMO:0003005 [] synonym: "neoplasm of germ cell" EXACT [NCIT:C3708] synonym: "neoplasm of the germ cell" EXACT [NCIT:C3708] synonym: "tumor of germ cell" EXACT [NCIT:C3708] synonym: "tumor of the germ cell" EXACT [NCIT:C3708] synonym: "tumour of germ cell" EXACT OMO:0003005 [] synonym: "tumour of the germ cell" EXACT OMO:0003005 [] xref: DOID:2994 {source="MONDO:equivalentTo", source="EFO:0000514"} xref: DOID:688 {source="EFO:0000514", source="MONDO:directSiblingOf"} xref: EFO:0000514 {source="MONDO:equivalentTo"} xref: GARD:0013022 {source="MONDO:equivalentTo"} xref: MONDO:0005040 xref: NCIT:C3708 {source="DOID:2994", source="MONDO:equivalentTo", source="EFO:0000514"} xref: UMLS:C0205851 {source="DOID:2994", source="NCIT:C3708", source="MONDO:equivalentTo"} is_a: EFO:0000616 {source="DOID:2994/inferred", source="EFO:0000514", source="MONDO:Redundant", source="NCIT:C3708/inferred"} ! neoplasm property_value: closeMatch http://identifiers.org/snomedct/115233005 property_value: closeMatch http://identifiers.org/snomedct/189839002 property_value: closeMatch http://identifiers.org/snomedct/189854008 property_value: closeMatch http://identifiers.org/snomedct/28307001 property_value: closeMatch http://identifiers.org/snomedct/302853003 property_value: exactMatch DOID:2994 property_value: exactMatch DOID:2994 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205851 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205851 property_value: exactMatch NCIT:C3708 property_value: exactMatch NCIT:C3708 [Term] id: EFO:0000515 name: obsolete_brain tumor glioblastoma alt_id: EFO:0000303 def: "A malignant form of astrocytoma histologically characterized by pleomorphism of cells, nuclear atypia, microhemorrhage, and necrosis. They may arise in any region of the central nervous system, with a predilection for the cerebral hemispheres, basal ganglia, and commissural pathways. Clinical presentation most frequently occurs in the fifth or sixth decade of life with focal neurologic signs or seizures." [] def: "A rare histological variant of glioblastoma (WHO grade IV) with a predominance of bizarre, multinucleated giant cells, an occasionally abundant stromal reticulin network, and a high frequency of TP53 mutations. (WHO)" [] xref: DOID:3074 xref: MeSH:D005909 xref: NCIt:C4325 xref: SNOMEDCT:44529004 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.5" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplication with glioblastoma (EFO_0000519)" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000519 [Term] id: EFO:0000516 name: obsolete_glaucoma def: "An ocular disease, occurring in many forms, having as its primary characteristics an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function. The consequences of the increased pressure may be manifested in a variety of symptoms, depending upon type and severity, such as excavation of the optic disk, hardness of the eyeball, corneal anesthesia, reduced visual acuity, seeing of colored halos around lights, disturbed dark adaptation, visual field defects, and headaches. (Dictionary of Visual Science, 4th ed)" [] def: "Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor." [] synonym: "Glaucoma (disorder)" EXACT [] synonym: "Glaucoma associated with other ocular disorders" EXACT [] synonym: "Glaucoma associated with other ocular disorders (disorder)" EXACT [] synonym: "Glaucoma associated with other ocular disorders NOS" EXACT [] synonym: "Glaucoma associated with other ocular disorders NOS (disorder)" EXACT [] synonym: "GLAUCOMA NEC" EXACT [] synonym: "Glaucoma NOS" EXACT [] synonym: "Glaucoma NOS (disorder)" EXACT [] synonym: "Glaucoma, NOS" EXACT [] synonym: "Glaucomas" EXACT [] synonym: "Other specified forms of glaucoma" EXACT [] synonym: "Other specified forms of glaucoma (disorder)" EXACT [] synonym: "Other specified glaucoma" EXACT [] synonym: "Other specified glaucoma NOS" EXACT [] synonym: "Other specified glaucoma NOS (disorder)" EXACT [] synonym: "Unspecified glaucoma" EXACT [] xref: DOID:1686 xref: ICD10:H40 xref: ICD9:365 xref: MedDRA:10018304 xref: MedDRA:10018332 xref: MeSH:D005901 xref: NCIt:C26782 xref: SNOMEDCT:23986001 property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.47.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replaced by Mondo term.\nSee: https://github.com/EBISPOT/efo/issues/1750\nUse: http://purl.obolibrary.org/obo/MONDO_0005041" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/MONDO_0005041 [Term] id: EFO:0000518 name: obsolete_glial cell (sensu Vertebrata) def: "A non-neuronal cell of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu. Form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons. Neuroglia have high-affinity transmitter uptake systems, voltage-dependent and transmitter-gated ion channels, and can release transmitters, but their role in signaling (as in many other functions) is unclear." [] xref: CL:0000243 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.9" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use EFO_0000517" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000517 [Term] id: EFO:0000519 name: glioblastoma multiforme def: "The most malignant astrocytic tumor (WHO grade IV). It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma, IDH-mutant), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma, IDH- wildtype). (Adapted from WHO)" [NCIT:C3058] subset: ordo_disease {source="Orphanet:360"} synonym: "GBM" EXACT ABBREVIATION [DOID:3068, NCIT:C3058, Orphanet:360] synonym: "GBM (glioblastoma)" EXACT [DOID:3068, NCIT:C3058] synonym: "giant cell glioblastoma (histologic variant)" RELATED [GARD:0002491] synonym: "glioblastoma" EXACT [] {comment="preferred label from MONDO"} synonym: "glioblastoma" EXACT [MONDO:ambiguous, NCIT:C3058] synonym: "glioblastoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "glioblastoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "glioblastoma multiforme" EXACT [NCIT:C3058, Orphanet:360] synonym: "glioblastoma multiforme (disease)" EXACT [MONDO:0002498] synonym: "gliosarcoma (histologic variant)" RELATED [GARD:0002491] synonym: "grade IV adult astrocytic tumor" EXACT [DOID:3068, NCIT:C9094] synonym: "grade IV adult astrocytic tumor" NARROW [DOID:3068, NCIT:C9094] synonym: "grade IV adult astrocytic tumour" NARROW OMO:0003005 [] synonym: "grade IV astrocytic neoplasm" EXACT [NCIT:C3058] synonym: "grade IV astrocytic tumor" EXACT [NCIT:C3058] synonym: "grade IV astrocytic tumour" EXACT OMO:0003005 [] synonym: "grade IV astrocytoma" EXACT [NCIT:C3058] synonym: "primary glioblastoma multiforme" EXACT [DOID:3068] synonym: "spongioblastoma multiforme" EXACT [DOID:3068, NCIT:C3058] synonym: "spongioblastoma multiforme" EXACT [CSP2005:2012-6410, DOID:3068, NCIT:C3058] synonym: "WHO grade IV glioma" EXACT [NCIT:C3058] xref: DOID:3068 {source="MONDO:equivalentTo"} xref: GARD:0002491 {source="MONDO:equivalentTo"} xref: HP:0012174 {source="MONDO:otherHierarchy"} xref: HP:0100843 {source="MONDO:otherHierarchy"} xref: ICD10:C71.9 {source="ORDO:360/ntbt", source="Orphanet:360"} xref: ICDO:9440/3 {source="NCIT:C3058"} xref: MedDRA:10018336 {source="ORDO:360/e", source="Orphanet:360"} xref: MedDRA:10018336 {source="Orphanet:360", source="Orphanet:360/e"} xref: MedDRA:10018337 {source="ORDO:360/e", source="Orphanet:360"} xref: MedDRA:10018337 {source="Orphanet:360", source="Orphanet:360/e"} xref: MESH:D005909 {source="https://orcid.org/0000-0003-1967-3726", source="DOID:3068", source="MONDO:equivalentTo", source="Orphanet:360", source="Orphanet:360/e"} xref: MONDO:0018177 xref: NCIT:C3058 {source="DOID:3068", source="MONDO:equivalentTo"} xref: ONCOTREE:GB {source="MONDO:equivalentTo"} xref: ONCOTREE:GBM {source="MONDO:equivalentTo"} xref: Orphanet:360 {source="MONDO:equivalentTo"} xref: SCTID:393563007 {source="MONDO:equivalentTo"} xref: UMLS:C0017636 {source="DOID:3068", source="MONDO:equivalentTo", source="ORDO:360/e", source="Orphanet:360", source="NCIT:C3058"} xref: UMLS:C0017636 {source="DOID:3068", source="MONDO:equivalentTo", source="Orphanet:360", source="NCIT:C3058", source="Orphanet:360/e"} xref: UMLS:C1621958 {source="MONDO:equivalentTo", source="ORDO:360/e", source="Orphanet:360"} xref: UMLS:C1621958 {source="MONDO:equivalentTo", source="Orphanet:360", source="Orphanet:360/e"} xref: UMLS:CN227279 {source="MONDO:equivalentTo"} is_a: EFO:0000272 ! astrocytoma is_a: MONDO:0016680 {source="NCIT:C3058", source="Orphanet:360"} ! high grade astrocytic tumor relationship: has_characteristic MONDO:0024494 {source="NCIT:C3058"} ! tumor grade 4, general grading system property_value: closeMatch http://identifiers.org/meddra/10018336 property_value: closeMatch http://identifiers.org/meddra/10018337 property_value: closeMatch http://identifiers.org/snomedct/189917003 property_value: closeMatch http://identifiers.org/snomedct/269506004 property_value: closeMatch http://identifiers.org/snomedct/63634009 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0278878 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1514422 property_value: closeMatch NCIT:C39750 property_value: exactMatch DOID:3068 property_value: exactMatch DOID:3068 property_value: exactMatch http://identifiers.org/meddra/10018336 property_value: exactMatch http://identifiers.org/meddra/10018337 property_value: exactMatch http://identifiers.org/mesh/D005909 property_value: exactMatch http://identifiers.org/mesh/D005909 property_value: exactMatch http://identifiers.org/snomedct/393563007 property_value: exactMatch http://identifiers.org/snomedct/393563007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017636 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017636 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1621958 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1621958 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227279 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227279 property_value: exactMatch NCIT:C3058 property_value: exactMatch NCIT:C3058 property_value: exactMatch Orphanet:360 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5798 xsd:anyURI property_value: IAO:0000589 "glioblastoma (disease)" xsd:string [Term] id: EFO:0000520 name: obsolete_glioma def: "A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas." [] xref: DOID:2627 xref: MeSH:D005910 xref: NCIt:C3059 xref: SNOMEDCT:115240006 xref: SNOMEDCT:189908003 xref: SNOMEDCT:189926000 xref: SNOMEDCT:74532006 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.5" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replaced with central nervous system cancer (EFO_0000326)" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000326 [Term] id: EFO:0000523 name: growth condition def: "A role that a material entity can play which enables particular conditions used to grow organisms or parts of the organism. This includes isolated environments such as cultures and open environments such as field studies." [] synonym: "GrowthCondition" EXACT [] xref: MO:183 is_a: CHEBI:24432 ! biological role property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000524 name: head and neck disorder def: "A non-neoplastic or neoplastic disorder that affects the anatomic structures of the head and neck region. This category includes inflammatory disorders, benign neoplasms, precancerous conditions, and malignant neoplasms. [ NCI ]" [] comment: This term had been labelled 'head disease' up until EFO 2.90 where it was then amended to 'head and neck disorder' to better reflect meaningful classification. The old definition is "The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed. E.g Acute Lymphocytic Leukemia". synonym: "disorder of head (disorder)" EXACT [] synonym: "head disease" EXACT [] xref: NCIt:C27571 is_a: EFO:0000408 ! disease disjoint_from: EFO:0001460 ! uninfected relationship: EFO:0000784 UBERON:0000033 ! has_disease_location head relationship: EFO:0000784 UBERON:0000974 ! has_disease_location neck property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000525 name: obsolete_hematological neoplasm xref: DOID:253 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.8" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Synonymous with lymphoid neoplasm EFO_0001642 - use instead." xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "OntologyMappingImporter following DOID:253" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0001642 [Term] id: EFO:0000526 name: obsolete_hemopoietic progenitor cell def: "A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system." [] comment: use EFO_0000527 xref: CL:0000037 property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000529 name: obsolete_hereditary spastic paraplegia def: "A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8)" [] synonym: "Autosomal Dominant Hereditary Spastic Paraplegia" EXACT [] synonym: "Autosomal Dominant Spastic Paraplegia Hereditary" EXACT [] synonym: "Autosomal Recessive Hereditary Spastic Paraplegia" EXACT [] synonym: "Autosomal Recessive Spastic Paraplegia, Hereditary" EXACT [] synonym: "Familial spastic paraplegia syndrome" EXACT [] synonym: "HERED SPASTIC PARAPLEGIA" EXACT [] synonym: "Hereditary Autosomal Dominant Spastic Paraplegia" EXACT [] synonym: "Hereditary Autosomal Recessive Spastic Paraplegia" EXACT [] synonym: "Hereditary motor and sensory neuropathy type V" EXACT [] synonym: "Hereditary motor and sensory neuropathy, type V" EXACT [] synonym: "Hereditary Motor Sensory Neuropathy with Pyramidal Signs" EXACT [] synonym: "Hereditary Motor-Sensory Neuropathy with Pyramidal Signs" EXACT [] synonym: "Hereditary sensory-motor neuropathy, type V" EXACT [] synonym: "Hereditary sensory-motor neuropathy, type V (disorder)" EXACT [] synonym: "Hereditary spastic paraplegia (disorder)" EXACT [] synonym: "Hereditary Spastic Paraplegia, Autosomal Recessive" EXACT [] synonym: "Hereditary Spastic Paraplegias" EXACT [] synonym: "Hereditary X Linked Recessive Spastic Paraplegia" EXACT [] synonym: "Hereditary X-Linked Recessive Spastic Paraplegia" EXACT [] synonym: "Hereditary, Spastic Paraplegia, Autosomal Dominant" EXACT [] synonym: "Hereditary, Spastic Paraplegia, X-Linked Recessive" EXACT [] synonym: "HMSN Type V" EXACT [] synonym: "HMSN V" EXACT [] synonym: "HMSN V (Hereditary Motor and Sensory Neuropathy Type V)" EXACT [] synonym: "HSMN V" EXACT [] synonym: "HSP - Hereditary spastic paraplegia" EXACT [] synonym: "Hypertrophic Motor Sensory Neuropathy Spastic Paraplegia" EXACT [] synonym: "Hypertrophic Motor-Sensory Neuropathy-Spastic Paraplegia" EXACT [] synonym: "Paraplegia, Hereditary Spastic" EXACT [] synonym: "Paraplegia, Spastic, Hereditary" EXACT [] synonym: "Paraplegias, Hereditary Spastic" EXACT [] synonym: "Spastic congenital paraplegia" EXACT [] synonym: "spastic paraplegia" EXACT [] synonym: "Spastic Paraplegia Hypertrophic Motor Sensory Neuropathy" EXACT [] synonym: "Spastic paraplegia with hypertrophic sensory-motor neuropathy, type V" EXACT [] synonym: "Spastic Paraplegia, Autosomal Dominant, Hereditary" EXACT [] synonym: "Spastic Paraplegia, Autosomal Recessive, Hereditary" EXACT [] synonym: "Spastic Paraplegia, Hereditary" EXACT [] synonym: "Spastic Paraplegia, Hereditary, Autosomal Dominant" EXACT [] synonym: "Spastic Paraplegia, Hereditary, Autosomal Recessive" EXACT [] synonym: "Spastic Paraplegia, Hereditary, X-Linked Recessive" EXACT [] synonym: "Spastic Paraplegia, X-Linked Recessive, Hereditary" EXACT [] synonym: "Spastic Paraplegia-Hypertrophic Motor-Sensory Neuropathy" EXACT [] synonym: "Spastic Paraplegias, Hereditary" EXACT [] synonym: "Strumpell disease" EXACT [] synonym: "Strumpell-Lorrain disease" EXACT [] synonym: "Type V Hereditary Motor and Sensory Neuropathy" EXACT [] synonym: "Type V, HMSN" EXACT [] synonym: "X linked Recessive Hereditary Spastic Paraplegia" EXACT [] synonym: "X-linked Recessive Hereditary Spastic Paraplegia" EXACT [] synonym: "X-Linked, Spastic Paraplegia, Hereditary" EXACT [] xref: DOID:2476 xref: ICD9:334.1 xref: MeSH:D015419 xref: OMIM:600361 xref: SNOMEDCT:39912006 xref: SNOMEDCT:76043009 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.46" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://www.orpha.net/ORDO/Orphanet_685 label : hereditary spastic paraplegia" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_685 [Term] id: EFO:0000530 name: obsolete_hippocampus property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/MA_0000191 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/MA_0000191 [Term] id: EFO:0000532 name: host def: "An animal or plant or part thereof that nourishes and supports a parasite either in a lab or natural environment." [] xref: MO:101 xref: NCIt:C66819 is_a: CHEBI:24432 ! biological role property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000533 name: obsolete_Huntington's disease def: "A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea." [] def: "A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4)" [] synonym: "AKINETIC RIGID VARIANT HUNTINGTON DIS" EXACT [] synonym: "Akinetic Rigid Variant of Huntington Disease" EXACT [] synonym: "Akinetic-Rigid Variant of Huntington Disease" EXACT [] synonym: "Chorea, Chronic Progressive Hereditary (Huntington)" EXACT [] synonym: "Chorea, Huntington" EXACT [] synonym: "Chorea, Huntington's" EXACT [] synonym: "Chronic progressive chorea" EXACT [] synonym: "Chronic progressive hereditary chorea" EXACT [] synonym: "Chronic Progressive Hereditary Chorea (Huntington)" EXACT [] synonym: "HC - Huntington chorea" EXACT [] synonym: "HD" EXACT [] synonym: "HD - Huntington chorea" EXACT [] synonym: "Huntington Chorea" EXACT [] synonym: "Huntington Chronic Progressive Hereditary Chorea" EXACT [] synonym: "HUNTINGTON DIS" EXACT [] synonym: "HUNTINGTON DIS AKINETIC RIGID VARIANT" EXACT [] synonym: "HUNTINGTON DIS JUVENILE" EXACT [] synonym: "HUNTINGTON DIS JUVENILE ONSET" EXACT [] synonym: "HUNTINGTON DIS LATE ONSET" EXACT [] synonym: "Huntington disease" EXACT [] synonym: "Huntington Disease, Akinetic Rigid Variant" EXACT [] synonym: "Huntington Disease, Akinetic-Rigid Variant" EXACT [] synonym: "Huntington Disease, Juvenile" EXACT [] synonym: "Huntington Disease, Juvenile Onset" EXACT [] synonym: "Huntington Disease, Juvenile-Onset" EXACT [] synonym: "Huntington Disease, Late Onset" EXACT [] synonym: "Huntington Disease, Late-Onset" EXACT [] synonym: "Huntington's" EXACT [] synonym: "Huntington's Chorea" EXACT [] synonym: "Huntington's chorea (disorder)" EXACT [] synonym: "Huntington's disease pathway" EXACT [] synonym: "HUNTINGTONS DIS" EXACT [] synonym: "Huntingtons disease" EXACT [] synonym: "JUVENILE HUNTINGTON DIS" EXACT [] synonym: "Juvenile Huntington Disease" EXACT [] synonym: "JUVENILE ONSET HUNTINGTON DIS" EXACT [] synonym: "Juvenile Onset Huntington Disease" EXACT [] synonym: "Juvenile-Onset Huntington Disease" EXACT [] synonym: "LATE ONSET HUNTINGTON DIS" EXACT [] synonym: "Late Onset Huntington Disease" EXACT [] synonym: "Late-Onset Huntington Disease" EXACT [] synonym: "Progressive Chorea, Chronic Hereditary (Huntington)" EXACT [] synonym: "Progressive Chorea, Hereditary, Chronic (Huntington)" EXACT [] xref: DOID:12858 xref: ICD9:333.4 xref: MeSH:D006816 xref: NIFSTD:birnlex_12500 xref: OMIM:143100 xref: SNOMEDCT:58756001 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_399' instead.\nNew Label : Huntington disease" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_399 [Term] id: EFO:0000534 name: hydrostatic pressure def: "The pressure exerted by a liquid as a result of its potential energy, ignoring its kinetic energy." [] xref: MeSH:D006874 is_a: EFO:0000469 ! environmental factor property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000535 name: obsolete_hyperglycemia def: "Abnormally high BLOOD GLUCOSE level after a meal." [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.57" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use HP_0003074 instead" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HP_0003074 [Term] id: EFO:0000536 name: hyperplasia def: "An abnormal increase in the number of (otherwise normal) cells in an organ or a tissue with consequent enlargement." [] def: "An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement." [NCIT:C3113] synonym: "hyperplasia" EXACT [] {comment="preferred label from MONDO"} synonym: "hyperplasia" EXACT [NCIT:C3113] synonym: "Hyperplastic" EXACT [] synonym: "hyperplastic" EXACT [NCIT:C3113] xref: MedDRA:10020718 xref: MESH:D006965 {source="MONDO:equivalentTo", source="EFO:0000536"} xref: MeSH:D006965 xref: MONDO:0005043 xref: NCIT:C3113 {source="MONDO:equivalentTo", source="EFO:0000536", source="MONDO:exact-label-match"} xref: NCIt:C3113 xref: SNOMEDCT:76197007 is_a: MONDO:0045024 {source="MONDO:Redundant", source="MONDO:cjm"} ! cancer or benign tumor disjoint_from: EFO:0001460 ! uninfected property_value: exactMatch http://identifiers.org/mesh/D006965 property_value: exactMatch NCIT:C3113 property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000537 name: hypertension def: "Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more." [] def: "Persistently high systemic arterial blood pressure. Based on multiple readings (blood pressure determination), hypertension is currently defined as when systolic pressure is consistently greater than 140 mm Hg or when diastolic pressure is consistently 90 mm Hg or more." [MESH:D006973] synonym: "(hypertensive disease) or (hypertension)" EXACT [] synonym: "[X]Hypertensive diseases" EXACT [] synonym: "[X]Hypertensive diseases (disorder)" EXACT [] synonym: "Blood Pressure, High" EXACT [] synonym: "blood pressure, high" EXACT [NCIT:C3117] synonym: "blood pressure, increased" EXACT [NCIT:C3117] synonym: "Blood Pressures, High" EXACT [] synonym: "High Blood Pressure" EXACT [] synonym: "high blood pressure" EXACT [DOID:10763] synonym: "High blood pressure (& [essential hypertension])" EXACT [] synonym: "High Blood Pressures" EXACT [] synonym: "HTN" BROAD ABBREVIATION [DOID:10763] synonym: "HTN" EXACT [] synonym: "HTN - hypertension" EXACT [] synonym: "hyperpiesia" EXACT [DOID:10763] synonym: "hypertension" RELATED [DOID:10763] synonym: "hypertension NOS" EXACT [] synonym: "HYPERTENSIVE DISEASE" EXACT [] synonym: "hypertensive disease" EXACT [DOID:10763, MTH:NOCODE] synonym: "Hypertensive disease (disorder)" EXACT [] synonym: "hypertensive disease NOS" EXACT [] synonym: "Hypertensive disease NOS (disorder)" EXACT [] synonym: "hypertensive disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "increased blood pressure" EXACT [NCIT:C3117] synonym: "pressure, high blood" EXACT [NCIT:C3117] synonym: "SURG COMP - HYPERTENSION" EXACT [] synonym: "vascular hypertensive disorder" EXACT [DOID:10763, NCIT:C3117] xref: DOID:10763 {source="MONDO:equivalentTo", source="EFO:0000537"} xref: HP:0000822 {source="MONDO:otherHierarchy"} xref: ICD10:O10 xref: ICD10:O11 xref: ICD10CM:I10-I16 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:I15 {source="MONDO:equivalentTo"} xref: ICD9:401-405.99 {source="DOID:10763", source="EFO:0000537"} xref: ICD9:997.91 {source="DOID:10763"} xref: MedDRA:10020772 xref: MESH:D006973 {source="DOID:10763", source="MONDO:equivalentTo", source="EFO:0000537"} xref: MeSH:D006973 xref: MONDO:0005044 xref: NCIT:C3117 {source="DOID:10763", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="MONDO:exact-label-match", source="EFO:0000537"} xref: NCIt:C3117 xref: OMIM:145500 xref: SCTID:38341003 {source="DOID:10763", source="MONDO:equivalentTo"} xref: UMLS:C0020538 {source="DOID:10763", source="MONDO:equivalentTo"} is_a: MONDO:0000473 {source="DOID:10763"} ! arterial disorder property_value: exactMatch DOID:10763 property_value: exactMatch http://identifiers.org/mesh/D006973 property_value: exactMatch http://identifiers.org/snomedct/38341003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020538 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/I10-I16 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/I15 property_value: exactMatch NCIT:C3117 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000538 name: hypertrophic cardiomyopathy def: "A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract." [NCIT:C34449] def: "A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY)." [] subset: clingen subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:217569"} synonym: "Asymmetric Septal Hypertrophies" EXACT [] synonym: "Asymmetric Septal Hypertrophy" EXACT [] synonym: "Cardiomyopathies, Hypertrophic" EXACT [] synonym: "Cardiomyopathies, Hypertrophic Obstructive" EXACT [] synonym: "Cardiomyopathy, hypertrophic" EXACT [] synonym: "Cardiomyopathy, Hypertrophic Obstructive" EXACT [] synonym: "familial hypertrophic cardiomyopathy" NARROW [DOID:11984] synonym: "HCM" EXACT [] synonym: "HCM - Hypertrophic cardiomyopathy" EXACT [] synonym: "HCM - hypertrophic cardiomyopathy" RELATED [] synonym: "HOCM - Hypertrophic obstructive cardiomyopathy" EXACT [] synonym: "hyper. obst. cardiomyopathy" EXACT [] synonym: "HYPERTR OBSTR CARDIOMYOP" EXACT [] synonym: "Hypertrophic Cardiomyopathies" EXACT [] synonym: "hypertrophic cardiomyopathy" EXACT [] {comment="preferred label from MONDO"} synonym: "Hypertrophic cardiomyopathy (disorder)" EXACT [] synonym: "hypertrophic myocardiopathy" EXACT [] synonym: "Hypertrophic Obstructive Cardiomyopathies" EXACT [] synonym: "Hypertrophic Obstructive Cardiomyopathy" EXACT [] synonym: "hypertrophic obstructive cardiomyopathy" EXACT [DOID:11984] synonym: "Hypertrophic obstructive cardiomyopathy (disorder)" EXACT [] synonym: "hypertrophic subaortic stenosis" EXACT [Orphanet:217569] synonym: "Hypertrophies, Asymmetric Septal" EXACT [] synonym: "Hypertrophy, Asymmetric Septal" EXACT [] synonym: "Idiopathic Hypertrophic Subaortic Stenosis" EXACT [] synonym: "IDIOPATHIC HYPERTROPHIC SUBVALV STENOSIS" EXACT [] synonym: "Idiopathic Hypertrophic Subvalvular Stenosis" EXACT [] synonym: "IHSS" EXACT [] synonym: "IHSSs" EXACT [] synonym: "Obstructive Cardiomyopathies, Hypertrophic" EXACT [] synonym: "Obstructive cardiomyopathy" EXACT [] synonym: "Obstructive Cardiomyopathy, Hypertrophic" EXACT [] synonym: "obstructive hypertrophic cardiomyopathy" EXACT [Orphanet:217569] synonym: "Primary hypertrophic cardiomyopathy" EXACT [] synonym: "primary hypertrophic cardiomyopathy (disorder) [Ambiguous]" EXACT [] synonym: "Septal Hypertrophies, Asymmetric" EXACT [] synonym: "Septal Hypertrophy, Asymmetric" EXACT [] synonym: "SUBVALV STENOSIS" EXACT [] synonym: "SUBVALV STENOSIS IDIOPATHIC HYPERTROPHIC" EXACT [] synonym: "Subvalvular Stenosis, Idiopathic Hypertrophic" EXACT [] xref: DOID:11984 {source="MONDO:equivalentTo", source="EFO:0000538"} xref: HP:0001639 {source="MONDO:otherHierarchy", source="https://orcid.org/0000-0002-9584-9618"} xref: ICD10CM:I42.1 {source="DOID:11984", source="MONDO:mondoIsBroaderThanSource"} xref: ICD10CM:I42.2 {source="MONDO:relatedTo"} xref: ICD9:425.1 {source="MONDO:mondoIsNarrowerThanSource", source="DOID:11984", source="EFO:0000538", source="https://orcid.org/0000-0002-9584-9618"} xref: ICD9:425.11 {source="DOID:11984"} xref: ICD9:425.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10020871 {source="Orphanet:217569", source="Orphanet:217569/e"} xref: MESH:D002312 {source="DOID:11984", source="Orphanet:217569", source="MONDO:equivalentTo", source="Orphanet:217569/e", source="EFO:0000538"} xref: MeSH:D002312 xref: MONDO:0005045 xref: NCIT:C34449 {source="DOID:11984", source="MONDO:equivalentTo", source="EFO:0000538"} xref: NCIt:C34449 xref: OMIM:115196 xref: OMIM:115197 xref: OMIM:192600 xref: OMIM:600858 xref: OMIM:601493 xref: OMIM:608751 xref: OMIM:612098 xref: OMIM:613251 xref: OMIM:613255 xref: OMIM:613690 xref: OMIM:613765 xref: OMIM:613838 xref: OMIM:613873 xref: OMIM:613874 xref: OMIM:613875 xref: OMIM:613876 xref: OMIM:618052 xref: ORDO:Orphanet_217569 xref: Orphanet:217569 {source="MONDO:equivalentTo"} xref: SCTID:233873004 {source="DOID:11984", source="MONDO:equivalentTo", source="EFO:0000538"} xref: SNOMEDCT:233873004 xref: UMLS:C0007194 {source="DOID:11984", source="Orphanet:217569", source="MONDO:equivalentTo", source="Orphanet:217569/e", source="NCIT:C34449"} is_a: MONDO:0000591 {source="DOID:11984", source="Wikipedia:Cardiomyopathy"} ! intrinsic cardiomyopathy property_value: closeMatch http://identifiers.org/meddra/10020871 property_value: exactMatch DOID:11984 property_value: exactMatch http://identifiers.org/mesh/D002312 property_value: exactMatch http://identifiers.org/snomedct/233873004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007194 property_value: exactMatch NCIT:C34449 property_value: exactMatch Orphanet:217569 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5962 xsd:anyURI property_value: narrowMatch http://purl.bioontology.org/ontology/ICD10CM/I42.1 property_value: relatedMatch http://purl.bioontology.org/ontology/ICD10CM/I42.2 [Term] id: EFO:0000540 name: immune system disease def: "A disorder resulting from an abnormality in the immune system." [NCIT:C3507] def: "A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions. It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" [] subset: rare_grouping synonym: "[X]Disorder involving the immune mechanism, unspecified" EXACT [] synonym: "[X]Disorder involving the immune mechanism, unspecified (disorder)" EXACT [] synonym: "AUTOIMMUNE DISEASE NEC" EXACT [] synonym: "Autoimmune disease, not elsewhere classified" EXACT [] synonym: "autoimmune diseases" EXACT [] synonym: "DEFIC CELL IMMUNITY NOS" EXACT [] synonym: "Deficiency of cell-mediated immunity" EXACT [] synonym: "disease of immune system" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of immune system" EXACT [] synonym: "disorder of immune system" EXACT [MONDO:patterns/location_top, NCIT:C3507] synonym: "Disorder of the immune mechanism NOS" EXACT [] synonym: "Disorder of the immune mechanism NOS (disorder)" EXACT [] synonym: "Disorders involving the immune mechanism" EXACT [] synonym: "IMMUNDEF T-CELL DEF NOS" EXACT [] synonym: "immune disease" EXACT [DOID:2914] synonym: "immune disorder" EXACT [NCIT:C3507] synonym: "immune dysfunction" EXACT [NCIT:C3507] synonym: "IMMUNE MECHANISM DIS NEC" EXACT [] synonym: "IMMUNE MECHANISM DIS NOS" EXACT [] synonym: "Immune System and Related Disorders" EXACT [] synonym: "immune system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "immune system disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "immune system disorder" EXACT [NCIT:C3507] synonym: "Immunodeficiency and Immunosuppression Disorders" EXACT [] synonym: "Immunodeficiency with predominant T-cell defect, unspecified" EXACT [] synonym: "Other deficiency of cell-mediated immunity" EXACT [] synonym: "Other specified disorders involving the immune mechanism" EXACT [] synonym: "Other specified disorders of the immune mechanism" EXACT [] synonym: "Other specified disorders of the immune mechanism (disorder)" EXACT [] synonym: "Unspecified disorder of immune mechanism" EXACT [] xref: DOID:2914 {source="EFO:0000540", source="MONDO:equivalentTo"} xref: ICD10:D89 xref: ICD9:279 {source="EFO:0000540", source="DOID:2914"} xref: ICD9:279.1 {source="EFO:0000540"} xref: ICD9:279.10 {source="EFO:0000540"} xref: ICD9:279.19 {source="EFO:0000540"} xref: ICD9:279.4 {source="EFO:0000540"} xref: ICD9:279.49 {source="EFO:0000540"} xref: ICD9:279.8 {source="MONDO:relatedTo", source="EFO:0000540", source="MONDO:i2s"} xref: ICD9:279.9 {source="EFO:0000540", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2914"} xref: MeSH:D001327 xref: MESH:D007154 {source="MONDO:equivalentTo"} xref: MONDO:0005046 xref: NCIt:C27351 xref: NCIT:C3507 {source="MONDO:equivalentTo"} xref: OMIM:109100 xref: SCTID:414029004 {source="MONDO:equivalentTo"} is_a: EFO:0000408 ! disease disjoint_from: EFO:0001460 ! uninfected property_value: exactMatch DOID:2914 property_value: exactMatch http://identifiers.org/mesh/D007154 property_value: exactMatch http://identifiers.org/snomedct/414029004 property_value: exactMatch NCIT:C3507 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000541 name: immunoprecipitate def: "The precipitate antibody bound target molecules generated when precipitating an antigen out of a solution during the process of immunoprecipitation." [] xref: SNOMEDCT:77662002 is_a: CHEBI:24431 ! chemical entity property_value: definition:citation http://www.agrisera.com/en/info/igg.html xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000542 name: individual def: "An individual used as a specimen in an experiment, from which a material sample was derived." [] xref: SNOMEDCT:385435006 is_a: OBI:0100051 ! specimen property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000543 name: obsolete_individual genetic characteristic def: "The genotype of the individual organism from which the biomaterial was derived. Individual genetic characteristics include polymorphisms, disease alleles, and haplotypes." [] property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000544 name: infection def: "The state of being infected such as from the introduction of a foreign agent such as serum, vaccine, antigenic substance or organism." [] xref: MedDRA:10021789 xref: MeSH:D007239 is_a: OBI:1110122 ! pathologic process property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000545 name: infertility def: "Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues." [NCIT:C3836] def: "Inability to reproduce after a specified period of unprotected intercourse. Reproductive sterility is permanent infertility." [] comment: Editor note: dubious as to whether this is a disease as defined, check with clingen before obsoleting subset: clingen synonym: "fertility disorders" EXACT [NCIT:C3836] synonym: "Infertile" EXACT [] synonym: "infertile" EXACT [NCIT:C3836] synonym: "Infertile (finding)" EXACT [] synonym: "infertility" RELATED [DOID:5223] synonym: "infertility disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "Reproductive Sterility" EXACT [] synonym: "Sterile" EXACT [NCIT:C3836] synonym: "sterile" EXACT [NCIT:C3836] synonym: "Sterility" EXACT [] synonym: "sterility" EXACT [NCIT:C3836] synonym: "Sterility, Reproductive" EXACT [] xref: DOID:5223 {source="MONDO:equivalentTo", source="EFO:0000545"} xref: MedDRA:10021926 xref: MedDRA:10021935 xref: MedDRA:10021936 xref: MedDRA:10021937 xref: MedDRA:10021938 xref: MedDRA:10021939 xref: MedDRA:10021940 xref: MedDRA:10021941 xref: MESH:D007246 {source="DOID:5223", source="MONDO:equivalentTo", source="EFO:0000545"} xref: MeSH:D007246 xref: MONDO:0005047 xref: NCIT:C3836 {source="DOID:5223", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="EFO:0000545", source="MONDO:exact-label-match"} xref: NCIt:C3836 xref: SNOMEDCT:15296000 xref: SNOMEDCT:261029002 xref: SNOMEDCT:8619003 is_a: EFO:0000512 {source="DOID:5223", source="EFO:0000545", source="MESH:D007246/inferred"} ! reproductive system disease property_value: exactMatch DOID:5223 property_value: exactMatch http://identifiers.org/mesh/D007246 property_value: exactMatch NCIT:C3836 property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000546 name: injury def: "Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity." [NCIT:C3671] subset: harrisons_view subset: other_hierarchy synonym: "injury" EXACT [NCIT:C3671] synonym: "injury" EXACT [] {comment="preferred label from MONDO"} synonym: "Trauma" EXACT [] synonym: "trauma" EXACT [NCIT:C3671] synonym: "traumatic injury" EXACT [NCIT:C3671] synonym: "Wound" EXACT [] synonym: "wound" EXACT [NCIT:C3671] xref: ICD10:S20 xref: ICD10:S56 xref: ICD10:S60 xref: ICD10:S65 xref: ICD10:S66 xref: ICD10:S69 xref: ICD10:S86 xref: ICD10:S89 xref: ICD10:T00 xref: ICD10:T01 xref: ICD10:T06 xref: ICD10:T09 xref: ICD10:T14 xref: ICD10:T70 xref: ICD10:T91 xref: ICD10:T94 xref: ICD10:T98 xref: MedDRA:10022116 xref: MedDRA:10022390 xref: MESH:D014947 {source="MONDO:equivalentTo"} xref: MONDO:0021178 xref: NCIT:C3671 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy"} xref: NCIt:C3671 xref: SNOMEDCT:13924000 xref: SNOMEDCT:416462003 is_a: BFO:0000016 ! disposition property_value: exactMatch http://identifiers.org/mesh/D014947 property_value: exactMatch NCIT:C3671 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000547 name: obsolete_inner cell mass synonym: "Embryoblast" EXACT [] xref: NCIt:C13740 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000087\nlabel: inner cell mass" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000087 [Term] id: EFO:0000548 name: instrument def: "An instrument is a device which provides a mechanical or electronic function." [] synonym: "hardware" EXACT [] synonym: "HardwareType" EXACT [] xref: MO:113 xref: MO:134 xref: SNOMEDCT:57134006 is_a: BFO:0000040 ! material entity property_value: branch:class "true" xsd:string property_value: definition:citation "OBI_0400003" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000549 name: insulinoma def: "An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. It may or may not be associated with inappropriate secretion of insulin and an associated clinical syndrome." [NCIT:C3140] synonym: "beta cell neoplasm" EXACT [NCIT:C3140] synonym: "Beta cell tumor" EXACT [NCIT:C3140] synonym: "Beta cell tumor of pancreas" EXACT [NCIT:C3140] synonym: "Beta cell tumor of the pancreas" EXACT [NCIT:C3140] synonym: "beta cell tumor of the pancreas" EXACT [NCIT:C3140] synonym: "Beta cell tumour" EXACT OMO:0003005 [] synonym: "Beta cell tumour of pancreas" EXACT OMO:0003005 [] synonym: "Beta cell tumour of the pancreas" EXACT OMO:0003005 [] synonym: "beta cell tumour of the pancreas" EXACT OMO:0003005 [] synonym: "insulin-producing islet cell tumor" EXACT [NCIT:C3140] synonym: "insulin-producing islet cell tumour" EXACT OMO:0003005 [] synonym: "insulin-producing tumor of islet cells" EXACT [NCIT:C3140] synonym: "insulin-producing tumor of the islet cells" EXACT [NCIT:C3140] synonym: "insulin-producing tumour of islet cells" EXACT OMO:0003005 [] synonym: "insulin-producing tumour of the islet cells" EXACT OMO:0003005 [] synonym: "pancreatic Beta cell tumor" EXACT [NCIT:C3140] synonym: "pancreatic Beta cell tumour" EXACT OMO:0003005 [] synonym: "pancreatic insulin producing neoplasm" EXACT [NCIT:C3140] synonym: "pancreatic insulin producing NET" EXACT [NCIT:C3140] synonym: "pancreatic insulin producing tumor" EXACT [NCIT:C3140] synonym: "pancreatic insulin producing tumour" EXACT OMO:0003005 [] synonym: "pancreatic insulin-producing neuroendocrine tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "pancreatic insulin-producing neuroendocrine tumor" EXACT [NCIT:C3140] synonym: "pancreatic insulin-producing neuroendocrine tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "pancreatic insulin-producing tumor" EXACT [NCIT:C3140] synonym: "pancreatic insulin-producing tumour" EXACT OMO:0003005 [] xref: ICDO:8151/0 {source="NCIT:C3140"} xref: ICDO:8151/1 {source="NCIT:C3140"} xref: MONDO:0005048 xref: NCIT:C3140 {source="MONDO:equivalentTo"} xref: Orphanet:97279 {source="MONDO:equivalentTo"} is_a: EFO:1000045 {source="NCIT:C3140", source="Orphanet:97279", source="Orphanet:97279/inferred"} ! pancreatic neuroendocrine tumor relationship: EFO:0000784 CL:0000168 ! has_disease_location insulin secreting cell property_value: closeMatch http://identifiers.org/snomedct/134154009 property_value: closeMatch http://identifiers.org/snomedct/189586007 property_value: closeMatch http://identifiers.org/snomedct/25324008 property_value: closeMatch http://identifiers.org/snomedct/76345009 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0022134 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0021670 property_value: exactMatch NCIT:C3140 property_value: exactMatch NCIT:C3140 property_value: exactMatch Orphanet:97279 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6281 xsd:anyURI [Term] id: EFO:0000551 name: intracranial hemorrhage def: "Bleeding within the SKULL, including hemorrhages in the brain and the three membranes of MENINGES. The escape of blood often leads to the formation of HEMATOMA in the cranial epidural, subdural, and subarachnoid spaces." [] synonym: "Brain Hemorrhage" EXACT [] synonym: "Brain Hemorrhages" EXACT [] synonym: "HEMORRHAGE INTRACRANIAL" EXACT [] synonym: "Hemorrhage, Brain" EXACT [] synonym: "Hemorrhage, Intracranial" EXACT [] synonym: "Hemorrhage, Posterior Fossa" EXACT [] synonym: "Hemorrhages, Brain" EXACT [] synonym: "Hemorrhages, Intracranial" EXACT [] synonym: "Hemorrhages, Posterior Fossa" EXACT [] synonym: "Intracranial haemorrhage" EXACT [] synonym: "Intracranial haemorrhage NOS" EXACT [] synonym: "INTRACRANIAL HEMORR NOS" EXACT [] synonym: "Intracranial Hemorrhage" EXACT [] synonym: "Intracranial hemorrhage (disorder)" EXACT [] synonym: "intracranial hemorrhage NOS (disorder)" EXACT [] synonym: "Intracranial hemorrhage, NOS" EXACT [] synonym: "Intracranial Hemorrhages" EXACT [] synonym: "Posterior Fossa Hemorrhage" EXACT [] synonym: "Posterior Fossa Hemorrhages" EXACT [] synonym: "Unspecified intracranial hemorrhage" EXACT [] xref: ICD10:I62 xref: ICD9:432.9 xref: MedDRA:10022763 xref: MedDRA:10055295 xref: MeSH:D020300 xref: SNOMEDCT:1386000 is_a: EFO:0003763 ! cerebrovascular disorder relationship: EFO:0000784 UBERON:0003499 ! has_disease_location brain blood vessel property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0000552 name: invasive breast ductal and lobular carcinoma def: "An invasive ductal breast carcinoma associated with a lobular carcinomatous component. The lobular carcinomatous component may be in situ or invasive." [NCIT:C7688] synonym: "infiltrating ductal and lobular carcinoma" EXACT [NCIT:C7688] synonym: "invasive duct and lobular carcinoma" EXACT [NCIT:C7688] synonym: "invasive ductal and lobular carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "invasive ductal and lobular carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "invasive ductal and lobular carcinoma" EXACT [NCIT:C7688] xref: EFO:0000552 {source="MONDO:equivalentTo"} xref: ICDO:8522/3 {source="NCIT:C7688"} xref: MONDO:0005050 xref: NCIT:C7688 {source="EFO:0000552", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C7688 {source="EFO:0000552", source="MONDO:equivalentTo", source="exact-label-match"} xref: UMLS:C1334277 {source="MONDO:equivalentTo", source="NCIT:C7688"} is_a: EFO:0000186 {source="EFO:0000552"} ! invasive breast ductal carcinoma is_a: EFO:1000382 {source="MONDO:Redundant", source="NCIT:C7688"} ! Mixed Lobular and Ductal Breast Carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334277 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334277 property_value: exactMatch NCIT:C7688 property_value: exactMatch NCIT:C7688 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql [Term] id: EFO:0000553 name: invasive lobular carcinoma def: "An infiltrating lobular adenocarcinoma of the breast. The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma. The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures." [NCIT:C7950] synonym: "breast invasive lobular carcinoma" RELATED [ONCOTREE:ILC] synonym: "classic invasive lobular carcinoma" EXACT [NCIT:C7950] synonym: "infiltrating lobular adenocarcinoma" EXACT [NCIT:C7950] synonym: "infiltrating lobular breast carcinoma" EXACT [NCIT:C7950] synonym: "infiltrating lobular carcinoma of breast" EXACT [NCIT:C7950] synonym: "infiltrating lobular carcinoma of the breast" EXACT [NCIT:C7950] synonym: "invasive lobular adenocarcinoma" EXACT [NCIT:C7950] synonym: "invasive lobular breast carcinoma" EXACT [NCIT:C7950] synonym: "invasive lobular breast carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "invasive lobular breast carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "invasive lobular carcinoma" EXACT [NCIT:C7950] synonym: "invasive lobular carcinoma of breast" EXACT [NCIT:C7950] synonym: "invasive lobular carcinoma of the breast" EXACT [NCIT:C7950] synonym: "invasive lobular carcinoma, classic type" EXACT [NCIT:C7950] synonym: "lobular carcinoma" BROAD [DOID:3457] synonym: "lobular carcinoma" EXACT [DOID:3457] synonym: "lobular carcinoma (morphologic abnormality)" BROAD [DOID:3457] synonym: "lobular carcinoma NOS (morphologic abnormality)" BROAD [DOID:3457] synonym: "lobular carcinoma of the breast" BROAD [DOID:3457] xref: DOID:3457 {source="MONDO:equivalentTo", source="EFO:0000553"} xref: EFO:0000553 {source="MONDO:equivalentTo"} xref: MONDO:0005051 xref: NCIT:C7950 {source="MONDO:equivalentTo", source="EFO:0000553"} xref: ONCOTREE:ILC {source="MONDO:equivalentTo"} xref: UMLS:C0206692 {source="MONDO:equivalentTo", source="DOID:3457"} xref: UMLS:C0279565 {source="NCIT:C7950", source="MONDO:equivalentTo"} is_a: EFO:0008509 {source="DOID:3457", source="MONDO:Redundant", source="NCIT:C7950"} ! lobular breast carcinoma is_a: EFO:1000307 {source="MONDO:Redundant", source="NCIT:C7950", source="ONCOTREE:ILC"} ! Invasive Breast Carcinoma property_value: closeMatch http://identifiers.org/mesh/D018275 property_value: closeMatch http://identifiers.org/snomedct/189713007 property_value: closeMatch http://identifiers.org/snomedct/89740008 property_value: exactMatch DOID:3457 property_value: exactMatch DOID:3457 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206692 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206692 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279565 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279565 property_value: exactMatch NCIT:C7950 property_value: exactMatch NCIT:C7950 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0000554 name: irradiate def: "The process of treating a material with radiation" [] xref: MO:770 is_a: EFO:0002694 ! experimental process property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000555 name: irritable bowel syndrome def: "A disorder with chronic or recurrent colonic symptoms without a clearcut etiology. This condition is characterized by chronic or recurrent ABDOMINAL PAIN, bloating, MUCUS in FECES, and an erratic disturbance of DEFECATION." [] def: "A syndrome that is a functional bowel disorder characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause." [] def: "Irritable bowel syndrome (IBS) is a chronic functional condition of the lower gastrointestinal (GI) tract characterized by abdominal pain or discomfort and disordered bowel habit (diarrhea, constipation, or fluctuation between the two)." [https://orcid.org/0000-0002-0736-9199, PMID:2174034, PMID:28657875] synonym: "[X]Psychogenic IBS" EXACT [] synonym: "Adaptive colitis" EXACT [] synonym: "Colitides, Mucous" EXACT [] synonym: "Colitis, Mucous" EXACT [] synonym: "Colon spasm" EXACT [] synonym: "Colon, Irritable" EXACT [] synonym: "Functional bowel disease" EXACT [] synonym: "IBD" EXACT ABBREVIATION [DOID:9778] synonym: "IBS" EXACT ABBREVIATION [NCIT:C82343] synonym: "IBS - Irritable bowel syndrome" EXACT [] synonym: "IC - Irritable colon" EXACT [] synonym: "Irritable bowel" EXACT [] synonym: "Irritable bowel - IBS" EXACT [] synonym: "irritable bowel syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "irritable bowel syndrome" EXACT [NCIT:C82343] synonym: "Irritable Bowel Syndromes" EXACT [] synonym: "Irritable Colon" EXACT [] synonym: "irritable colon" EXACT [DOID:9778, NCIT:C82343] synonym: "Irritable colon (disorder)" EXACT [] synonym: "Irritable colon - Irritable bowel syndrome" EXACT [] synonym: "Irritable colon syndrome" EXACT [] synonym: "Membranous colitis" EXACT [] synonym: "Mucous Colitides" EXACT [] synonym: "Mucous colitis" EXACT [] synonym: "mucus colitis" EXACT [NCIT:C82343] synonym: "Nervous colitis" EXACT [] synonym: "Psychogenic IBS" EXACT [] synonym: "psychogenic IBS" RELATED [DOID:9778] synonym: "Spastic colitis" EXACT [] synonym: "Spastic colon" EXACT [] synonym: "spastic colon" EXACT [NCIT:C82343] synonym: "Syndrome, Irritable Bowel" EXACT [] synonym: "Syndromes, Irritable Bowel" EXACT [] xref: DOID:9778 {source="MONDO:equivalentTo", source="EFO:0000555"} xref: ICD10:K58 xref: ICD10CM:K58 {source="DOID:9778", source="MONDO:equivalentTo"} xref: ICD9:564.1 {source="DOID:9778", source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0000555"} xref: MedDRA:10023003 xref: MESH:D043183 {source="DOID:9778", source="MONDO:equivalentTo", source="EFO:0000555"} xref: MeSH:D043183 xref: MONDO:0005052 xref: NCIT:C82343 {source="DOID:9778", source="MONDO:equivalentTo", source="EFO:0000555"} xref: NCIt:C82343 xref: SCTID:10743008 {source="DOID:9778", source="MONDO:equivalentTo", source="EFO:0000555"} xref: SNOMEDCT:10743008 xref: UMLS:C0022104 {source="DOID:9778", source="MONDO:equivalentTo", source="NCIT:C82343"} is_a: EFO:0009431 {source="EFO:0000555", source="MESH:D043183/inferred", source="NCIT:C82343/inferred"} ! intestinal disease is_a: MONDO:0002254 {source="DOID:9778", source="NCIT:C82343"} ! syndromic disease property_value: exactMatch DOID:9778 property_value: exactMatch http://identifiers.org/mesh/D043183 property_value: exactMatch http://identifiers.org/snomedct/10743008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022104 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K58 property_value: exactMatch NCIT:C82343 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000556 name: ischemia def: "A hypoperfusion of the BLOOD through an organ or tissue caused by a PATHOLOGIC CONSTRICTION or obstruction of its BLOOD VESSELS, or an absence of BLOOD CIRCULATION." [] synonym: "Ischaemia" EXACT [] synonym: "Ischaemia, NOS" EXACT [] synonym: "Ischemia (disorder)" EXACT [] synonym: "Ischemia, NOS" EXACT [] synonym: "Ischemias" EXACT [] xref: DOID:326 xref: MedDRA:10054438 xref: MeSH:D007511 xref: NCIt:C34738 xref: SNOMEDCT:52674009 is_a: HP:0001626 ! Abnormality of the cardiovascular system property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000557 name: juvenile dermatomyositis def: "A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)" [] def: "Juvenile dermatomyositis (JDM) is the early-onset form of dermatomyositis (DM), a systemic, autoimmune inflammatory muscle disorder, characterized by proximal muscle weakness, evocative skin lesion, and systemic manifestations." [Orphanet:93672] subset: gard_rare {source="GARD:0006805"} subset: ordo_disease {source="Orphanet:93672"} synonym: "childhood Dermatomyositis" EXACT [] synonym: "childhood dermatomyositis" EXACT [DOID:14203, NCIT:C27576] synonym: "Childhood Type Dermatomyositides" EXACT [] synonym: "Childhood Type Dermatomyositis" EXACT [] synonym: "childhood type dermatomyositis" RELATED [DOID:14203] synonym: "childhood type dermatomyositis (disorder)" EXACT [] synonym: "Dermatomyositides, Childhood Type" EXACT [] synonym: "Dermatomyositis, Childhood Type" EXACT [] synonym: "inflammation of myoseptum" EXACT [] synonym: "JDM" RELATED ABBREVIATION [GARD:0006805] synonym: "JPM" RELATED ABBREVIATION [GARD:0006805] synonym: "juvenile dermatomyositis" EXACT [] {comment="preferred label from MONDO"} synonym: "juvenile dermatomyositis" EXACT [DOID:14203, MONDO:0005054] synonym: "juvenile DM" EXACT [Orphanet:93672] synonym: "juvenile myositis" RELATED [GARD:0006805] synonym: "myopathy, familial idiopathic inflammatory" RELATED [OMIM:160750] synonym: "myoseptum inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "myoseptumitis" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "myositis" RELATED [OMIM:160750] xref: DOID:14203 {source="MONDO:equivalentTo", source="EFO:0000557"} xref: MedDRA:10008521 {source="Orphanet:93672", source="Orphanet:93672/e"} xref: MedDRA:10078425 xref: MESH:C000598745 {source="MONDO:equivalentObsolete"} xref: MESH:C538250 {source="Orphanet:93672", source="Orphanet:93672/e", source="MONDO:directSiblingOf"} xref: MONDO:0008054 xref: NCIT:C27576 {source="MONDO:equivalentTo", source="EFO:0000557", source="DOID:14203"} xref: NCIt:C27576 xref: OMIM:160750 xref: Orphanet:93672 {source="MONDO:equivalentTo", source="GARD:0006805"} xref: SCTID:1212005 {source="MONDO:equivalentTo", source="EFO:0000557", source="DOID:14203"} xref: SNOMEDCT:1212005 xref: UMLS:C2931785 {source="Orphanet:93672", source="MONDO:equivalentObsolete", source="NCIT:C27576", source="Orphanet:93672/e", source="OMIM:160750"} is_a: EFO:0000398 {source="DOID:14203", source="EFO:0000557", source="MESH:C000598745", source="MONDO:cjm", source="NCIT:C27576"} ! dermatomyositis is_a: EFO:0004244 ! interstitial lung disease is_a: MONDO:0018010 {source="Orphanet:93672"} ! juvenile idiopathic inflammatory myopathy property_value: closeMatch http://identifiers.org/meddra/10008521 property_value: exactMatch DOID:14203 property_value: exactMatch http://identifiers.org/snomedct/1212005 property_value: exactMatch NCIT:C27576 property_value: exactMatch Orphanet:93672 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6805/juvenile-dermatomyositis xsd:anyURI {source="GARD:0006805"} [Term] id: EFO:0000558 name: Kaposi's sarcoma def: "A malignant neoplasm characterized by a vascular proliferation which usually contains blunt endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The most frequent site of involvement is the skin; however it may also occur internally. It generally develops in people with compromised immune systems including those with acquired immune deficiency syndrome (AIDS)." [NCIT:P378] subset: ordo_disease {source="Orphanet:33276"} synonym: "African lymphadenopathic Kaposi's sarcoma" RELATED [DOID:8632] synonym: "anal Kaposi's sarcoma" NARROW [DOID:8632] synonym: "cardiac Kaposi's sarcoma" NARROW [DOID:8632] synonym: "central nervous system Kaposi's sarcoma" NARROW [DOID:8632] synonym: "conjunctival Kaposi's sarcoma" NARROW [DOID:8632] synonym: "corneal Kaposi's sarcoma" NARROW [DOID:8632] synonym: "cutaneous Kaposi's sarcoma" NARROW [DOID:8632] synonym: "esophageal Kaposi's sarcoma" NARROW [DOID:8632] synonym: "gallbladder Kaposi's sarcoma" NARROW [DOID:8632] synonym: "gastric Kaposi's sarcoma" NARROW [DOID:8632] synonym: "HHV8" RELATED ABBREVIATION [GARD:0006814] synonym: "human herpesvirus 8" RELATED [GARD:0006814] synonym: "intestinal Kaposi's sarcoma" NARROW [DOID:8632] synonym: "Kaposi sarcoma" EXACT [DOID:8632, MONDO:0018049, NCIT:C9087] synonym: "Kaposi sarcoma herpesvirus" RELATED [GARD:0006814] synonym: "Kaposi's sarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "Kaposi's sarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "Kaposi's sarcoma" EXACT [MONDO:ambiguous, NCIT:C9087] synonym: "Kaposi's sarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Kaposi's sarcoma of anus" NARROW [DOID:8632] synonym: "Kaposi's sarcoma of central nervous system" NARROW [DOID:8632] synonym: "Kaposi's sarcoma of conjunctiva" EXACT [DOID:8632] synonym: "Kaposi's sarcoma of cornea" EXACT [DOID:8632] synonym: "Kaposi's sarcoma of esophagus" NARROW [DOID:8632] synonym: "Kaposi's sarcoma of gastrointestinal sites" NARROW [DOID:8632] synonym: "Kaposi's sarcoma of heart" NARROW [DOID:8632] synonym: "Kaposi's sarcoma of lung" EXACT [DOID:8632] synonym: "Kaposi's sarcoma of lymph nodes" NARROW [DOID:8632] synonym: "Kaposi's sarcoma of oesophagus" NARROW OMO:0003005 [] synonym: "Kaposi's sarcoma of palate" EXACT [DOID:8632] synonym: "Kaposi's sarcoma of penis" NARROW [DOID:8632] synonym: "Kaposi's sarcoma of skin" NARROW [DOID:8632] synonym: "Kaposi's sarcoma of soft tissue" EXACT [DOID:8632] synonym: "Kaposi's sarcoma of soft tissues" EXACT [DOID:8632] synonym: "Kaposi's sarcoma of the CNS" NARROW [DOID:8632] synonym: "Kaposi's sarcoma of the gallbladder" NARROW [DOID:8632] synonym: "Kaposi's sarcoma of the prostate" NARROW [DOID:8632] synonym: "Kaposi's sarcoma, lung" NARROW [DOID:8632] synonym: "Kaposi's sarcoma, skin" NARROW [DOID:8632] synonym: "Kaposi's sarcoma-associated herpesvirus (KSHV)" RELATED [DOID:8632] synonym: "KS" EXACT ABBREVIATION [NCIT:C9087] synonym: "KSHV" RELATED ABBREVIATION [GARD:0006814] synonym: "lymph node Kaposi's sarcoma" NARROW [DOID:8632] synonym: "lymphadenopathic Kaposi's sarcoma" NARROW [DOID:8632] synonym: "Mediterranean Kaposi sarcoma" RELATED [GARD:0006814] synonym: "multiple hemorrhagic sarcoma" NARROW [NCIT:C9087] synonym: "non AIDS related Kaposi sarcoma" RELATED [GARD:0006814] synonym: "palate Kaposi's sarcoma" NARROW [DOID:8632] synonym: "penis Kaposi's sarcoma" NARROW [DOID:8632] synonym: "prostate Kaposi's sarcoma" NARROW [DOID:8632] synonym: "pulmonary Kaposi's sarcoma" NARROW [DOID:8632] synonym: "soft tissue Kaposi's sarcoma" NARROW [DOID:8632] xref: COHD:434584 {source="MONDO:equivalentTo"} xref: DOID:8632 {source="MONDO:equivalentTo", source="EFO:0000558"} xref: EFO:0000558 {source="MONDO:equivalentTo"} xref: GARD:0006814 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0100726 {source="MONDO:otherHierarchy"} xref: ICD10:C46.0 {source="ORDO:33276/btnt", source="Orphanet:33276"} xref: ICD10:C46.1 {source="ORDO:33276/btnt", source="Orphanet:33276"} xref: ICD10:C46.2 {source="ORDO:33276/btnt", source="Orphanet:33276"} xref: ICD10:C46.3 {source="ORDO:33276/btnt", source="Orphanet:33276"} xref: ICD10:C46.7 {source="ORDO:33276/btnt", source="Orphanet:33276"} xref: ICD10:C46.8 {source="ORDO:33276/btnt", source="Orphanet:33276"} xref: ICD10:C46.9 {source="ORDO:33276/btnt", source="Orphanet:33276"} xref: ICD9:176 {source="DOID:8632", source="EFO:0000558"} xref: ICD9:176.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:176.8 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:176.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:176.9 {source="MONDO:equivalentTo", source="i2s"} xref: ICDO:9140/3 {source="NCIT:C9087"} xref: MedDRA:10023284 {source="Orphanet:33276/e", source="Orphanet:33276"} xref: MedDRA:10023284 {source="ORDO:33276/e", source="Orphanet:33276"} xref: MESH:D012514 {source="DOID:8632", source="MONDO:equivalentTo", source="ORDO:33276/e", source="Orphanet:33276"} xref: MESH:D012514 {source="DOID:8632", source="Orphanet:33276/e", source="MONDO:equivalentTo", source="Orphanet:33276"} xref: MONDO:0005055 xref: NCIT:C9087 {source="DOID:8632", source="MONDO:equivalentTo", source="EFO:0000558"} xref: OMIM:148000 xref: Orphanet:33276 {source="MONDO:equivalentTo"} xref: SCTID:109385007 {source="MONDO:equivalentTo"} is_a: EFO:0000763 ! viral disease is_a: EFO:0003968 ! angiosarcoma is_a: MONDO:0015157 {source="Orphanet:33276"} ! human herpesvirus 8-related tumor relationship: EFO:0000784 UBERON:0000014 ! has_disease_location zone of skin property_value: closeMatch http://identifiers.org/meddra/10023284 property_value: closeMatch http://identifiers.org/snomedct/49937004 property_value: exactMatch DOID:8632 property_value: exactMatch DOID:8632 property_value: exactMatch http://identifiers.org/meddra/10023284 property_value: exactMatch http://identifiers.org/mesh/D012514 property_value: exactMatch http://identifiers.org/mesh/D012514 property_value: exactMatch http://identifiers.org/snomedct/109385007 property_value: exactMatch http://identifiers.org/snomedct/109385007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036220 property_value: exactMatch NCIT:C9087 property_value: exactMatch NCIT:C9087 property_value: exactMatch Orphanet:33276 property_value: excluded_subClassOf MONDO:0002176 {source="DOID:8632"} property_value: IAO:0000589 "Kaposi's sarcoma (disease)" xsd:string [Term] id: EFO:0000559 name: keratinizing squamous cell carcinoma def: "Squamous cell carcinomas with morphologically prominent production of keratin." [NCIT:C4105] synonym: "keratinizing epidermoid carcinoma" EXACT [DOID:5521] synonym: "keratinizing squamous cell carcinoma" EXACT [DOID:5521, NCIT:C4105] synonym: "keratinizing squamous cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "keratinizing squamous cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "squamous cell carcinoma, keratinizing" EXACT [DOID:5521] synonym: "squamous cell carcinoma, keratinizing (morphologic abnormality)" EXACT [DOID:5521] xref: DOID:5521 {source="MONDO:equivalentTo", source="EFO:0000559"} xref: EFO:0000559 {source="MONDO:equivalentTo"} xref: ICDO:8071/3 {source="NCIT:C4105"} xref: MONDO:0005056 xref: NCIT:C4105 {source="DOID:5521", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:0000559"} xref: NCIT:C4105 {source="DOID:5521", source="MONDO:equivalentTo", source="exact-label-match", source="EFO:0000559"} xref: UMLS:C0334247 {source="DOID:5521", source="MONDO:equivalentTo", source="NCIT:C4105"} is_a: EFO:0000707 {source="DOID:5521", source="EFO:0000559", source="NCIT:C4105"} ! squamous cell carcinoma property_value: closeMatch http://identifiers.org/snomedct/18048008 property_value: closeMatch http://identifiers.org/snomedct/189568009 property_value: exactMatch DOID:5521 property_value: exactMatch DOID:5521 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334247 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334247 property_value: exactMatch NCIT:C4105 property_value: exactMatch NCIT:C4105 [Term] id: EFO:0000561 name: knock in expression def: "Knock in expression is a process in which a gene is replaced by an altered version of the same gene using homologous recombination resulting in a gain of function." [] is_a: EFO:0002694 ! experimental process property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000562 name: labelling def: "The process of marking a material in some way for experimental purposes. E.g. the labelling of a nucleic acid with biotin in a microarray experiment" [] synonym: "labeling" EXACT [] xref: MO:471 xref: NCIt:C54694 is_a: EFO:0002694 ! experimental process property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000563 name: large cell neuroendocrine carcinoma def: "A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas." [NCIT:C6875] synonym: "large cell NEC" EXACT [NCIT:C6875] synonym: "large cell neuroendocrine carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "large cell neuroendocrine carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "large cell neuroendocrine carcinoma" EXACT [NCIT:C6875] synonym: "large-cell neuroendocrine carcinoma" EXACT [NCIT:C6875] synonym: "LCNEC" EXACT ABBREVIATION [NCIT:C6875] xref: DOID:0050872 {source="EFO:0000563", source="MONDO:equivalentTo", source="implicitly refers to subclass"} xref: DOID:0050872 {source="EFO:0000563", source="MONDO:equivalentTo"} xref: EFO:0000563 {source="MONDO:equivalentTo"} xref: ICDO:8013/3 {source="NCIT:C6875"} xref: MONDO:0005057 xref: NCIT:C6875 {source="EFO:0000563", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C6875 {source="EFO:0000563", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:LUNE {source="MONDO:equivalentTo"} xref: UMLS:C1265996 {source="MONDO:equivalentTo", source="NCIT:C6875"} is_a: MONDO:0002120 {source="MONDO:Redundant", source="NCIT:C6875"} ! neuroendocrine carcinoma is_a: MONDO:0005232 {source="DOID:0050872/inferred", source="MONDO:Redundant", source="NCIT:C6875"} ! large cell carcinoma intersection_of: MONDO:0002120 {source="NCIT:C6875"} ! neuroendocrine carcinoma intersection_of: MONDO:0005232 {source="NCIT:C6875"} ! large cell carcinoma relationship: EFO:0000784 UBERON:0000949 ! has_disease_location endocrine system property_value: closeMatch http://identifiers.org/snomedct/128628002 property_value: exactMatch DOID:0050872 property_value: exactMatch DOID:0050872 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1265996 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1265996 property_value: exactMatch NCIT:C6875 property_value: exactMatch NCIT:C6875 [Term] id: EFO:0000564 name: leiomyosarcoma def: "An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas." [NCIT:C3158] subset: gard_rare {source="GARD:0006880"} subset: ordo_disease {source="Orphanet:64720"} synonym: "leiomyosarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "leiomyosarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "leiomyosarcoma" EXACT [NCIT:C3158] synonym: "leiomyosarcoma (excluding uterine leiomyosarcoma)" EXACT [NCIT:C3158] synonym: "leiomyosarcoma - not uterine" EXACT [NCIT:C3158] synonym: "leiomyosarcoma, malignant" EXACT [NCIT:C3158] synonym: "Leiomyosarcomas" EXACT [DOID:1967, NCIT:C3158] xref: DOID:1967 {source="MONDO:equivalentTo", source="EFO:0000564"} xref: EFO:0000564 {source="MONDO:equivalentTo"} xref: GARD:0006880 {source="MONDO:equivalentTo"} xref: ICD10:C49.9 {source="Orphanet:64720", source="ORDO:64720/ntbt"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:8890/3 {source="NCIT:C3158"} xref: MedDRA:10024189 {source="Orphanet:64720", source="Orphanet:64720/e"} xref: MedDRA:10024189 {source="ORDO:64720/e", source="Orphanet:64720"} xref: MESH:D007890 {source="Orphanet:64720", source="MONDO:equivalentTo", source="EFO:0000564", source="Orphanet:64720/e", source="DOID:1967"} xref: MESH:D007890 {source="ORDO:64720/e", source="Orphanet:64720", source="MONDO:equivalentTo", source="EFO:0000564", source="DOID:1967"} xref: MONDO:0005058 xref: NCIT:C3158 {source="MONDO:equivalentTo", source="EFO:0000564", source="DOID:1967"} xref: OMIM:613488 xref: ONCOTREE:LMS {source="MONDO:equivalentTo"} xref: Orphanet:64720 {source="MONDO:equivalentTo"} xref: SCTID:443719001 {source="MONDO:equivalentTo", source="EFO:0000564", source="DOID:1967"} xref: UMLS:C0023269 {source="ORDO:64720/e", source="Orphanet:64720", source="MONDO:equivalentTo", source="NCIT:C3158", source="DOID:1967"} xref: UMLS:C0023269 {source="Orphanet:64720", source="MONDO:equivalentTo", source="NCIT:C3158", source="Orphanet:64720/e", source="DOID:1967"} is_a: EFO:1001968 {source="Orphanet:64720"} ! soft tissue sarcoma is_a: MONDO:0002924 {source="DOID:1967", source="NCIT:C3158"} ! smooth muscle cancer is_a: MONDO:0017345 {source="Orphanet:64720"} ! Epstein-Barr virus-associated mesenchymal tumor property_value: closeMatch http://identifiers.org/meddra/10024189 property_value: closeMatch http://identifiers.org/snomedct/189790006 property_value: closeMatch http://identifiers.org/snomedct/51549004 property_value: exactMatch DOID:1967 property_value: exactMatch DOID:1967 property_value: exactMatch http://identifiers.org/meddra/10024189 property_value: exactMatch http://identifiers.org/mesh/D007890 property_value: exactMatch http://identifiers.org/mesh/D007890 property_value: exactMatch http://identifiers.org/snomedct/443719001 property_value: exactMatch http://identifiers.org/snomedct/443719001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023269 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023269 property_value: exactMatch NCIT:C3158 property_value: exactMatch NCIT:C3158 property_value: exactMatch Orphanet:64720 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6880/leiomyosarcoma xsd:anyURI {source="GARD:0006880"} [Term] id: EFO:0000565 name: leukemia def: "A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years." [NCIT:C3161] synonym: "blood (leukemia)" EXACT [NCIT:C3161] synonym: "leukaemia (disease)" EXACT OMO:0003005 [] synonym: "leukaemia NOS" RELATED OMO:0003005 [] synonym: "leukemia" EXACT [MONDO:ambiguous, NCIT:C3161] synonym: "leukemia" EXACT [] {comment="preferred label from MONDO"} synonym: "leukemia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "leukemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "leukemia, disease" EXACT [NCIT:C3161] synonym: "leukemia, malignant" EXACT [NCIT:C3161] synonym: "leukemias" EXACT [NCIT:C3161] synonym: "leukemias, general" EXACT [NCIT:C3161] xref: DOID:1240 {source="EFO:0000565", source="MONDO:equivalentTo"} xref: EFO:0000565 {source="MONDO:equivalentTo"} xref: HP:0001909 {source="MONDO:otherHierarchy"} xref: ICD10:C95 {source="DOID:1240"} xref: ICD10:C95.9 {source="DOID:1240"} xref: ICD10:C95.90 {source="DOID:1240"} xref: ICD9:207 {source="EFO:0000565"} xref: ICD9:207.8 {source="EFO:0000565"} xref: ICD9:207.80 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:207.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:208 {source="DOID:1240", source="EFO:0000565"} xref: ICD9:208.8 {source="EFO:0000565"} xref: ICD9:208.80 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:208.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:208.9 {source="DOID:1240", source="EFO:0000565"} xref: ICD9:208.90 {source="MONDO:equivalentTo", source="i2s"} xref: ICD9:208.90 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICDO:9800/3 {source="NCIT:C3161"} xref: MESH:D007938 {source="DOID:1240", source="EFO:0000565", source="MONDO:equivalentTo"} xref: MONDO:0005059 xref: NCIT:C3161 {source="DOID:1240", source="EFO:0000565", source="MONDO:equivalentTo"} xref: SCTID:93143009 {source="DOID:1240", source="EFO:0000565", source="MONDO:equivalentTo"} xref: UMLS:C0023418 {source="NCIT:C3161", source="DOID:1240", source="MONDO:equivalentTo"} is_a: MONDO:0044881 {source="NCIT:C3161"} ! hematopoietic and lymphoid cell neoplasm property_value: closeMatch http://identifiers.org/snomedct/154598008 property_value: closeMatch http://identifiers.org/snomedct/188762002 property_value: closeMatch http://identifiers.org/snomedct/188767008 property_value: closeMatch http://identifiers.org/snomedct/190024009 property_value: closeMatch http://identifiers.org/snomedct/190025005 property_value: closeMatch http://identifiers.org/snomedct/190029004 property_value: closeMatch http://identifiers.org/snomedct/190071003 property_value: closeMatch http://identifiers.org/snomedct/255049003 property_value: closeMatch http://identifiers.org/snomedct/87163000 property_value: exactMatch DOID:1240 property_value: exactMatch DOID:1240 property_value: exactMatch http://identifiers.org/mesh/D007938 property_value: exactMatch http://identifiers.org/mesh/D007938 property_value: exactMatch http://identifiers.org/snomedct/93143009 property_value: exactMatch http://identifiers.org/snomedct/93143009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023418 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023418 property_value: exactMatch NCIT:C3161 property_value: exactMatch NCIT:C3161 property_value: excluded_subClassOf MONDO:0005157 {source="EFO:0000565"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000589 "leukemia (disease)" xsd:string [Term] id: EFO:0000568 name: light def: "The photoperiod and type (e.g., natural, restricted wavelength) of light exposure." [] xref: MeSH:D008027 xref: MO:60 xref: NCIt:C64650 xref: SNOMEDCT:56242006 is_a: EFO:0000469 ! environmental factor property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000569 name: liposarcoma def: "A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid liposarcoma. The metastatic potential is higher in less differentiated tumors." [NCIT:C3194] subset: gard_rare {source="GARD:0006913"} subset: ordo_disease {source="Orphanet:69078"} synonym: "lip sarcoma" EXACT [MONDO:patterns/location] synonym: "liposarcoma" EXACT [NCIT:C3194] synonym: "liposarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "liposarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "liposarcoma, malignant" EXACT [NCIT:C3194] synonym: "sarcoma of lip" EXACT [MONDO:patterns/sarcoma] xref: DOID:3382 {source="MONDO:equivalentTo", source="EFO:0000569"} xref: EFO:0000569 {source="MONDO:equivalentTo"} xref: GARD:0006913 {source="MONDO:equivalentTo"} xref: ICD10:C49.9 {source="ORDO:69078/ntbt", source="Orphanet:69078"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8850/3 {source="NCIT:C3194"} xref: MedDRA:10024627 {source="ORDO:69078/e", source="Orphanet:69078"} xref: MedDRA:10024627 {source="Orphanet:69078/e", source="Orphanet:69078"} xref: MESH:D008080 {source="MONDO:equivalentTo", source="ORDO:69078/e", source="EFO:0000569", source="Orphanet:69078", source="DOID:3382"} xref: MESH:D008080 {source="Orphanet:69078/e", source="MONDO:equivalentTo", source="EFO:0000569", source="Orphanet:69078", source="DOID:3382"} xref: MONDO:0005060 xref: NCIT:C3194 {source="MONDO:equivalentTo", source="EFO:0000569", source="DOID:3382"} xref: ONCOTREE:LIPO {source="MONDO:equivalentTo"} xref: Orphanet:69078 {source="MONDO:equivalentTo"} xref: SCTID:254829001 {source="MONDO:equivalentTo", source="EFO:0000569", source="DOID:3382"} xref: UMLS:C0023827 {source="NCIT:C3194", source="Orphanet:69078/e", source="MONDO:equivalentTo", source="Orphanet:69078", source="DOID:3382"} xref: UMLS:C0023827 {source="NCIT:C3194", source="MONDO:equivalentTo", source="ORDO:69078/e", source="Orphanet:69078", source="DOID:3382"} is_a: EFO:0005755 ! rheumatic disease is_a: EFO:1001968 {source="Orphanet:69078"} ! soft tissue sarcoma is_a: MONDO:0002813 {source="DOID:3382", source="MONDO:Redundant", source="NCIT:C3194"} ! lipomatous cancer relationship: EFO:0000784 UBERON:0001013 ! has_disease_location adipose tissue property_value: closeMatch http://identifiers.org/meddra/10024627 property_value: closeMatch http://identifiers.org/snomedct/189777004 property_value: closeMatch http://identifiers.org/snomedct/49430005 property_value: exactMatch DOID:3382 property_value: exactMatch DOID:3382 property_value: exactMatch http://identifiers.org/meddra/10024627 property_value: exactMatch http://identifiers.org/mesh/D008080 property_value: exactMatch http://identifiers.org/mesh/D008080 property_value: exactMatch http://identifiers.org/snomedct/254829001 property_value: exactMatch http://identifiers.org/snomedct/254829001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023827 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023827 property_value: exactMatch NCIT:C3194 property_value: exactMatch NCIT:C3194 property_value: exactMatch Orphanet:69078 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6913/liposarcoma xsd:anyURI {source="GARD:0006913"} [Term] id: EFO:0000570 name: obsolete_lobular breast carcinoma def: "A infiltrating (invasive) breast cancer, relatively uncommon, accounting for only 5%-10% of breast tumors in most series. It is often an area of ill-defined thickening in the breast, in contrast to the dominant lump characteristic of ductal carcinoma. It is typically composed of small cells in a linear arrangement with a tendency to grow around ducts and lobules. There is likelihood of axillary nodal involvement with metastasis to meningeal and serosal surfaces. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1205)" [] def: "An adenocarcinoma of the breast arising from the lobules. This is a relatively uncommon carcinoma, represents approximately 10% of the breast adenocarcinomas and is often bilateral or multifocal." [] xref: DOID:3457 xref: MeSH:D018275 xref: NCIt:C3771 xref: SNOMEDCT:189713007 xref: SNOMEDCT:278054005 xref: SNOMEDCT:89740008 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.5" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate with invasive lobular carcinoma (EFO_0000553)" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000553 [Term] id: EFO:0000571 name: lung adenocarcinoma def: "A carcinoma that arises from the lung and is characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor." [NCIT:C3512] subset: gard_rare {source="GARD:0005742"} synonym: "adenocarcinoma of lung" EXACT [DOID:3910, NCIT:C3512] synonym: "adenocarcinoma of the lung" EXACT [NCIT:C3512] synonym: "bronchogenic lung adenocarcinoma" EXACT [DOID:3910] synonym: "LUAD" EXACT [] synonym: "lung adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C3512] synonym: "lung adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "lung adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "non-small cell lung adenocarcinoma" EXACT [MONDO:0005474] synonym: "nonsmall cell adenocarcinoma" EXACT [DOID:3910] xref: DOID:3910 {source="MONDO:subClassOf", source="EFO:0005288", source="EFO:0000571", source="MONDO:equivalentTo"} xref: DOID:3910 {source="EFO:0005288", source="EFO:0000571", source="MONDO:equivalentTo"} xref: EFO:0000571 {source="MONDO:equivalentTo", source="DOID:3910"} xref: EFO:0005288 {source="MONDO:equivalentTo"} xref: GARD:0005742 {source="MONDO:equivalentTo"} xref: MESH:C538231 {source="EFO:0000571", source="MONDO:equivalentTo", source="DOID:3910"} xref: MESH:D000077192 {source="EFO:0000571", source="MONDO:equivalentTo", source="DOID:3910"} xref: MONDO:0005061 xref: NCIT:C3512 {source="EFO:0005288", source="EFO:0000571", source="MONDO:equivalentTo", source="DOID:3910"} xref: OMIM:211980 xref: ONCOTREE:LUAD {source="MONDO:equivalentTo"} xref: Orphanet:415268 {source="MONDO:equivalentObsolete"} xref: SCTID:254626006 {source="EFO:0000571", source="MONDO:equivalentTo", source="DOID:3910"} xref: UMLS:C0152013 {source="MONDO:equivalentTo", source="DOID:3910", source="NCIT:C3512"} is_a: EFO:0000228 {source="DOID:3910", source="EFO:0005288", source="MESH:C538231", source="MONDO:Redundant", source="NCIT:C3512/inferred"} ! adenocarcinoma is_a: EFO:0003060 {source="DOID:3910", source="EFO:0005288", source="NCIT:C3512", source="ONCOTREE:LUAD"} ! non-small cell lung carcinoma relationship: EFO:0000784 UBERON:0002048 ! has_disease_location lung property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1335060 property_value: closeMatch NCIT:C27745 property_value: exactMatch DOID:3910 property_value: exactMatch DOID:3910 property_value: exactMatch http://identifiers.org/mesh/C538231 property_value: exactMatch http://identifiers.org/mesh/D000077192 property_value: exactMatch http://identifiers.org/snomedct/254626006 property_value: exactMatch http://identifiers.org/snomedct/254626006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152013 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152013 property_value: exactMatch NCIT:C3512 property_value: exactMatch NCIT:C3512 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/adenocarcinoma.yaml property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5742/lung-adenocarcinoma xsd:anyURI {source="GARD:0005742"} [Term] id: EFO:0000572 name: lymphoblast def: "An immature lymphocyte that has enlarged in response to antigenic stimulation." [] def: "Often referred to as a blast cell. Unlike other usages of the suffix -blast a lymphoblast is a further differentiation of a lymphocyte, T- or B-, occasioned by an antigenic stimulus. The lymphoblast usually develops by enlargement of a lymphocyte, active re-entry to the S phase of the cell cycle, mitogenesis and production of much m-RNA and ribosomes." [] synonym: "lymphoblastic" EXACT [] xref: BTO:0000772 xref: NCIt:C13013 xref: SNOMEDCT:15433008 is_a: CL:0000988 ! hematopoietic cell relationship: located_in UBERON:0002390 ! hematopoietic system property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000574 name: lymphoma def: "A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas." [NCIT:C3208] comment: This is potentially too broad as well as overlaps with leukemia and should be obsoleted. {source="EFO:0000574"} subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:223735"} synonym: "lymphoid cancer" EXACT [DOID:0060058] synonym: "lymphoma" EXACT [] {comment="preferred label from MONDO"} synonym: "lymphoma" EXACT [MONDO:0016389, NCIT:C3208] synonym: "lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "lymphoma (Hodgkin and non-Hodgkin)" EXACT [NCIT:C3208] synonym: "lymphoma (Hodgkin's and non-Hodgkin's)" EXACT [NCIT:C3208] synonym: "lymphoma, malignant" EXACT [NCIT:C3208] synonym: "lymphomatous" EXACT [NCIT:C3208] synonym: "malignant lymphoma" EXACT [MONDO:cjm, NCIT:C3208] synonym: "MLYM" RELATED ABBREVIATION [ONCOTREE:MLYM] xref: COHD:432571 {source="MONDO:equivalentTo"} xref: DOID:0060058 {source="EFO:0000574", source="MONDO:equivalentTo"} xref: EFO:0000574 {source="MONDO:equivalentTo"} xref: GARD:0011955 {source="MONDO:equivalentTo"} xref: ICD10:C85.9 {source="DOID:0060058"} xref: ICD9:200.0 {source="EFO:0000574"} xref: ICD9:200.1 {source="EFO:0000574"} xref: ICD9:202.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:202.80 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9590/3 {source="NCIT:C3208"} xref: MedDRA:10025310 {source="ORDO:223735/e", source="Orphanet:223735"} xref: MedDRA:10025310 {source="Orphanet:223735", source="Orphanet:223735/e"} xref: MESH:D008223 {source="EFO:0000574", source="DOID:0060058", source="MONDO:equivalentTo", source="Orphanet:223735", source="Orphanet:223735/e"} xref: MESH:D008223 {source="EFO:0000574", source="DOID:0060058", source="MONDO:equivalentTo", source="ORDO:223735/e", source="Orphanet:223735"} xref: MONDO:0005062 xref: NCIT:C3208 {source="EFO:0000574", source="DOID:0060058", source="MONDO:equivalentTo"} xref: OMIM:605027 xref: ONCOTREE:MLYM {source="MONDO:equivalentTo"} xref: Orphanet:223735 {source="MONDO:equivalentTo"} xref: SCTID:118600007 {source="EFO:0000574", source="DOID:0060058", source="MONDO:equivalentTo"} xref: SCTID:373168002 {source="MONDO:relatedTo", source="EFO:0000574"} xref: UMLS:C0024299 {source="DOID:0060058", source="MONDO:equivalentTo", source="ORDO:223735/e", source="Orphanet:223735", source="NCIT:C3208"} xref: UMLS:C0024299 {source="DOID:0060058", source="MONDO:equivalentTo", source="Orphanet:223735", source="NCIT:C3208", source="Orphanet:223735/e"} is_a: EFO:0001642 {source="EFO:0000574", source="NCIT:C3208"} ! lymphoid neoplasm is_a: MONDO:0015757 {source="Orphanet:223735"} ! lymphoid hemopathy is_a: Orphanet:322126 ! Genetic tumor of hematopoietic and lymphoid tissues property_value: closeMatch http://identifiers.org/meddra/10025310 property_value: closeMatch http://identifiers.org/snomedct/115244002 property_value: closeMatch http://identifiers.org/snomedct/134218000 property_value: closeMatch http://identifiers.org/snomedct/188676008 property_value: closeMatch http://identifiers.org/snomedct/188694002 property_value: closeMatch http://identifiers.org/snomedct/188695001 property_value: closeMatch http://identifiers.org/snomedct/188704004 property_value: closeMatch http://identifiers.org/snomedct/189959002 property_value: closeMatch http://identifiers.org/snomedct/189965002 property_value: closeMatch http://identifiers.org/snomedct/21964009 property_value: closeMatch http://identifiers.org/snomedct/269627002 property_value: closeMatch http://identifiers.org/snomedct/414628006 property_value: exactMatch DOID:0060058 property_value: exactMatch DOID:0060058 property_value: exactMatch http://identifiers.org/meddra/10025310 property_value: exactMatch http://identifiers.org/mesh/D008223 property_value: exactMatch http://identifiers.org/mesh/D008223 property_value: exactMatch http://identifiers.org/snomedct/118600007 property_value: exactMatch http://identifiers.org/snomedct/118600007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024299 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024299 property_value: exactMatch NCIT:C3208 property_value: exactMatch NCIT:C3208 property_value: exactMatch Orphanet:223735 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0000577 name: obsolete_material type def: "Controlled terms for the state of the BioMaterial. Each state (BioSource, different BioSamples, and LabeledExtract) have MaterialTypes. Examples are population of an organism, organism, organism part, cell" [] comment: redundant now and is synonymous to material entity property_value: IAO:0000112 "population of an organism, organism, organism part, cell" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000579 name: media def: "The physical state or matrix used to provide nutrients to the organism (e.g., liquid, agar, soil)." [] comment: probably a role xref: MO:545 xref: NCIt:C19442 xref: SNOMEDCT:228654009 is_a: EFO:0000523 ! growth condition property_value: IAO:0000112 "liquid, agar, soil" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000580 name: medullary breast carcinoma def: "An infiltrating breast carcinoma with a relatively favorable prognosis. It is an uncommon carcinoma, accounting for less than 1% of all infiltrating breast carcinomas. It is well circumscribed, with soft cut surface and often of considerable size. Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells. The malignant cells are round with abundant cytoplasm and vesicular nuclei. The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate. Glandular or tubular structures are absent." [NCIT:C9119] synonym: "breast medullary carcinoma" RELATED [DOID:5605] synonym: "infiltrating medullary carcinoma of breast" EXACT [NCIT:C9119] synonym: "infiltrating medullary carcinoma of the breast" EXACT [NCIT:C9119] synonym: "invasive medullary breast carcinoma" EXACT [NCIT:C9119] synonym: "invasive medullary carcinoma of breast" EXACT [NCIT:C9119] synonym: "invasive medullary carcinoma of the breast" EXACT [NCIT:C9119] synonym: "medullary breast cancer" EXACT [NCIT:C9119] synonym: "medullary breast carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "medullary breast carcinoma" EXACT [NCIT:C9119] synonym: "medullary breast carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "medullary breast carcinoma with lymphoid Stroma" EXACT [DOID:5605, NCIT:C9119] synonym: "medullary carcinoma of breast" EXACT [DOID:5605, NCIT:C9119] synonym: "medullary carcinoma of the breast" EXACT [NCIT:C9119] xref: DOID:5605 {source="EFO:0000580", source="MONDO:equivalentTo"} xref: EFO:0000580 {source="MONDO:equivalentTo"} xref: ICDO:8512/3 {source="NCIT:C9119"} xref: MONDO:0005063 xref: NCIT:C9119 {source="EFO:0000580", source="MONDO:equivalentTo", source="DOID:5605", source="exact-label-match"} xref: NCIT:C9119 {source="EFO:0000580", source="MONDO:equivalentTo", source="DOID:5605", source="MONDO:exact-label-match"} xref: UMLS:C0860580 {source="MONDO:equivalentTo", source="DOID:5605", source="NCIT:C9119"} is_a: EFO:0000186 ! invasive breast ductal carcinoma property_value: exactMatch DOID:5605 property_value: exactMatch DOID:5605 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0860580 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0860580 property_value: exactMatch NCIT:C9119 property_value: exactMatch NCIT:C9119 [Term] id: EFO:0000584 name: infectious meningitis def: "A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord." [] def: "Inflammation of the meninges of the brain and/or spinal cord caused by an infectious agent (viral, bacterial, or fungal). Symptoms include headache, fever, vomiting, neck stiffness, photophobia, confusion, and seizures." [NCIT:C79598] def: "Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents." [] synonym: "Infectious Meningitis" EXACT [] synonym: "infectious meningitis" EXACT [] {comment="preferred label from MONDO"} synonym: "infectious meningitis" EXACT [NCIT:C79598] synonym: "infective meningitis" EXACT [NCIT:C79598] synonym: "Meningitides" EXACT [] synonym: "Meningitis" EXACT [] synonym: "meningitis" RELATED [DOID:9471] synonym: "Meningitis (disorder)" EXACT [] synonym: "meningitis due to organism" EXACT [] synonym: "MENINGITIS NOS" EXACT [] synonym: "Meningitis of unspecified cause" EXACT [] synonym: "Meningitis of unspecified cause (disorder)" EXACT [] synonym: "Meningitis, NOS" EXACT [] synonym: "Meningitis, unspecified" EXACT [] synonym: "Pachymeningitides" EXACT [] synonym: "Pachymeningitis" EXACT [] synonym: "Unspecified meningitis" EXACT [] synonym: "Unspecified meningitis (disorder)" EXACT [] xref: DOID:9471 {source="EFO:0000584", source="MONDO:equivalentTo"} xref: HP:0001287 {source="MONDO:otherHierarchy"} xref: ICD10:G03 xref: ICD9:321.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:322 {source="EFO:0000584", source="DOID:9471"} xref: ICD9:322.9 {source="EFO:0000584", source="DOID:9471"} xref: MedDRA:10053638 xref: MeSH:D008581 xref: MONDO:0004796 xref: NCIT:C79598 {source="EFO:0000584", source="MONDO:equivalentTo"} xref: NCIt:C79598 xref: SCTID:312216007 {source="MONDO:equivalentTo"} xref: SNOMEDCT:25822001 xref: SNOMEDCT:7180009 is_a: EFO:1001456 ! central nervous system infection is_a: MONDO:0021108 {source="MONDO:Redundant", source="NCIT:C79598"} ! meningitis property_value: exactMatch DOID:9471 property_value: exactMatch http://identifiers.org/snomedct/312216007 property_value: exactMatch NCIT:C79598 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5537 xsd:anyURI [Term] id: EFO:0000586 name: mesenchymal stem cell synonym: "conditioned mesenchymal stem cell" EXACT [] xref: CL:0000134 xref: NCIt:C43423 xref: SNOMEDCT:418124002 is_a: CL:0000034 ! stem cell property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000588 name: mesothelioma def: "A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos." [NCIT:C3234] synonym: "mesothelioma" EXACT [NCIT:C3234] synonym: "mesothelioma" EXACT [] {comment="preferred label from MONDO"} synonym: "mesothelioma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:0000588 {source="MONDO:equivalentTo"} xref: ICD10:C45 {source="MONDO:equivalentTo"} xref: ICD10CM:C45 {source="MONDO:equivalentTo"} xref: MESH:D008654 {source="MONDO:equivalentTo", source="EFO:0000588"} xref: MONDO:0005065 xref: NCIT:C3234 {source="MONDO:equivalentTo", source="EFO:0000588", source="MONDO:exact-label-match"} xref: NCIT:C3234 {source="MONDO:equivalentTo", source="EFO:0000588", source="exact-label-match"} xref: OMIM:156240 xref: UMLS:C0025500 {source="MONDO:equivalentTo", source="NCIT:C3234"} is_a: EFO:1001044 {source="EFO:0000588", source="MESH:D008654", source="NCIT:C3234"} ! mesothelial neoplasm property_value: closeMatch http://identifiers.org/snomedct/62064005 property_value: exactMatch http://identifiers.org/mesh/D008654 property_value: exactMatch http://identifiers.org/mesh/D008654 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025500 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025500 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/C45 property_value: exactMatch NCIT:C3234 property_value: exactMatch NCIT:C3234 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0000589 name: metabolic disease def: "A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process. -- 2003" [] def: "A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process." [NCIT:C3235] def: "A disease that involving errors in metabolic processes." [] def: "Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" [] subset: harrisons_view subset: rare_grouping synonym: "DIS METAB" EXACT [] synonym: "disease of metabolism" EXACT [] synonym: "disease of metabolism" RELATED [DOID:0014667] synonym: "Disease, Metabolic" EXACT [] synonym: "Diseases, Metabolic" EXACT [] synonym: "disorder of metabolic process" EXACT [MONDO:patterns/basis_in_disruption_of_process] synonym: "Disorder of metabolism NOS" EXACT [] synonym: "Disorder of metabolism NOS (disorder)" EXACT [] synonym: "Generalised metabolic disorder" EXACT [] synonym: "Generalized metabolic disorder" EXACT [] synonym: "Generalized metabolic disorder (disorder)" EXACT [] synonym: "MD - Metabolic disorders" EXACT [] synonym: "METAB DIS" EXACT [] synonym: "metabolic disease" EXACT [] {comment="preferred label from MONDO"} synonym: "metabolic disease" EXACT [DOID:0014667, NCIT:C3235] synonym: "Metabolic disease (disorder)" EXACT [] synonym: "Metabolic disease, NOS" EXACT [] synonym: "Metabolic Diseases" EXACT [] synonym: "Metabolic Disorder" EXACT [] synonym: "metabolic disorder" EXACT [NCIT:C3235] synonym: "Metabolic disorder, NOS" EXACT [] synonym: "Metabolic disorders" EXACT [] synonym: "metabolic process disease" EXACT [MONDO:design_pattern] synonym: "metabolism disorder" EXACT [] synonym: "METABOLISM DISORDER NOS" EXACT [] synonym: "Thesaurismoses" EXACT [] synonym: "Thesaurismosis" EXACT [] synonym: "Unspecified disorder of metabolism" EXACT [] xref: DOID:0014667 {source="MONDO:equivalentTo", source="EFO:0000589"} xref: ICD10CM:E70-E88 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10WHO:E70-E90 {source="MONDO:equivalentTo"} xref: ICD9:277.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:277.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0000589", source="DOID:0014667"} xref: MESH:D008659 {source="MONDO:equivalentTo", source="EFO:0000589", source="DOID:0014667"} xref: MeSH:D008659 xref: MONDO:0005066 xref: NCIT:C3235 {source="MONDO:equivalentTo", source="EFO:0000589", source="DOID:0014667"} xref: NCIt:C3235 xref: SCTID:75934005 {source="MONDO:equivalentTo", source="EFO:0000589", source="DOID:0014667"} xref: SNOMEDCT:75934005 xref: UMLS:C0025517 {source="MONDO:equivalentTo", source="NCIT:C3235", source="DOID:0014667"} is_a: EFO:0000408 ! disease disjoint_from: EFO:0001460 ! uninfected property_value: exactMatch DOID:0014667 property_value: exactMatch http://identifiers.org/mesh/D008659 property_value: exactMatch http://identifiers.org/snomedct/75934005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025517 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E70-E88 property_value: exactMatch https://icd.who.int/browse10/2019/en#/E70-E90 property_value: exactMatch NCIT:C3235 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000591 name: obsolete_mitochondrial disorder def: "Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes." [] synonym: "Deficiencies, Oxidative Phosphorylation" EXACT [] synonym: "Deficiencies, Respiratory Chain" EXACT [] synonym: "Deficiency, Oxidative Phosphorylation" EXACT [] synonym: "Deficiency, Respiratory Chain" EXACT [] synonym: "Disease, Mitochondrial" EXACT [] synonym: "Disorder, Mitochondrial" EXACT [] synonym: "Disorders, Mitochondrial" EXACT [] synonym: "ELECTRON TRANSPORT CHAIN DEFIC MITOCHONDRIAL" EXACT [] synonym: "Electron Transport Chain Deficiencies, Mitochondrial" EXACT [] synonym: "hyperglycaemia" EXACT [] synonym: "MITOCHONDRIAL DIS" EXACT [] synonym: "mitochondrial disease" EXACT [] synonym: "mitochondrial disease/disorder" EXACT [] synonym: "Mitochondrial Diseases" EXACT [] synonym: "Mitochondrial Disorders" EXACT [] synonym: "MITOCHONDRIAL ELECTRON TRANSPORT CHAIN DEFIC" EXACT [] synonym: "Mitochondrial Electron Transport Chain Deficiencies" EXACT [] synonym: "Mitochondrial Respiratory Chain Deficiencies" EXACT [] synonym: "OX PHOS DEFIC" EXACT [] synonym: "Oxidative Phosphorylation Deficiencies" EXACT [] synonym: "Oxidative Phosphorylation Deficiency" EXACT [] synonym: "Phosphorylation Deficiencies, Oxidative" EXACT [] synonym: "Phosphorylation Deficiency, Oxidative" EXACT [] synonym: "RESPIRATORY CHAIN DEFIC MITOCHONDRIAL" EXACT [] synonym: "Respiratory Chain Deficiencies, Mitochondrial" EXACT [] synonym: "Respiratory Chain Deficiency" EXACT [] xref: DOID:700 xref: MeSH:D028361 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Reorganised according to Orphanet hierarchy" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_68380 [Term] id: EFO:0000592 name: obsolete_mixed lobular and ductal breast carcinoma xref: DOID:6582 xref: NCIt:C5160 xref: NCIt:C6939 xref: NCIt:C7689 xref: NCIt:C7690 xref: SNOMEDCT:35232005 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.5" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate with invasive ductal and lobular carcinoma (EFO_0000552)" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000552 [Term] id: EFO:0000595 name: monophasic synovial sarcoma def: "A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only." [NCIT:C6534] synonym: "monophasic sarcoma of synovium" EXACT [DOID:5495, NCIT:C6534] synonym: "monophasic sarcoma of the synovium" EXACT [NCIT:C6534] synonym: "monophasic synovial sarcoma" EXACT [NCIT:C6534] synonym: "monophasic synovial sarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "monophasic synovial sarcoma" EXACT [] {comment="preferred label from MONDO"} xref: DOID:5495 {source="EFO:0000595", source="MONDO:equivalentTo"} xref: EFO:0000595 {source="MONDO:equivalentTo"} xref: MONDO:0005067 xref: NCIT:C6534 {source="EFO:0000595", source="MONDO:equivalentTo", source="DOID:5495"} xref: UMLS:C1334801 {source="MONDO:equivalentTo", source="NCIT:C6534", source="DOID:5495"} is_a: EFO:0001376 {source="DOID:5495", source="EFO:0000595", source="NCIT:C6534"} ! synovial sarcoma property_value: exactMatch DOID:5495 property_value: exactMatch DOID:5495 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334801 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334801 property_value: exactMatch NCIT:C6534 property_value: exactMatch NCIT:C6534 [Term] id: EFO:0000596 name: obsolete_motoneuron def: "A neuron with a motor function; an efferent neuron conveying motor impulses." [] def: "An efferent neuron that passes from the central nervous system or a ganglion toward or to a muscle and conducts an impulse that causes movement." [] xref: BTO:0000312 xref: CL:0000100 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.8" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate deprecated in favour of motor neurone" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/CL_0000100 [Term] id: EFO:0000597 name: 129 mouse strain def: "129 is a mouse strain as described in Jackson Laboratory http://www.informatics.jax.org/mgihome/nomen/strain_129.shtml" [] is_a: NCBITaxon:10090 ! Mus musculus property_value: definition:citation http://www.informatics.jax.org/mgihome/nomen/strain_129.shtml xsd:string property_value: definition:citation "Simpson E. M., Linder C. C., Sargent E. E., Davisson M. T., Mobraaten L. E., and Sharp J. J. (1997) Genetic variation among 129 substrains and its importance for targeted mutagenesis in mice. Nature Genet. 16, 19-27." xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000598 name: 129S6 def: "129S6 is a substrain of the mouse strain 129 as described in Jackson Laboratory http://www.informatics.jax.org/mgihome/nomen/strain_129.shtml" [] synonym: "129S6/SvEvTac" EXACT [] xref: NIFSTD:birnlex_174 is_a: EFO:0000597 ! 129 mouse strain property_value: definition:citation http://www.informatics.jax.org/mgihome/nomen/strain_129.shtml xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000599 name: 129/Sv def: "129/Sv is a substrain of the mouse strain 129 as described in Jackson Laboratory http://www.informatics.jax.org/mgihome/nomen/strain_129.shtml" [] is_a: EFO:0000597 ! 129 mouse strain property_value: definition:citation http://www.informatics.jax.org/mgihome/nomen/strain_129.shtml xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000600 name: 129X1/SvJ def: "129X1/SvJ is a substrain of the mouse strain 129 as described in Jackson Laboratory http://jaxmice.jax.org/strain/000691.html Note this strain was formerly called 129X1" [] synonym: "129X1" EXACT [] xref: NIFSTD:birnlex_557 is_a: EFO:0000597 ! 129 mouse strain property_value: definition:citation http://jaxmice.jax.org/strain/000691.html xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000601 name: 129xC57BL/6 def: "129xC57BL/6 is a substrain of the mouse strain 129 as described in article PUBMED ID 15015938" [] xref: PMID:15015938 is_a: EFO:0000597 ! 129 mouse strain property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000602 name: BALB/c def: "BALB/c is a mouse strain of albion mice." [] comment: Description from https://www.jax.org/strain/000651:\n\nBALB/c mice are particularly well known for the production of plasmacytomas following injection with mineral oil forming the basis for the production of monoclonal antibodies. Although not all BALB/c substrains have been examined for plasmacytoma induction, substrains derived from the Andervont (An) lineage (which includes BALB/cByJ) typically are susceptible, while those descended from BALB/cJ are resistant (see: Potter M, 1985). Mammary tumor incidence is normally low but infection with mammary tumor virus by fostering to MMTV+ C3H mice dramatically increases tumor number and age of onset. BALB/c mice develop other cancers later in life including reticular neoplasms, primary lung tumors, and renal tumors. Rare spontaneous myoepitheliomas arising from myoepithelial cells of various exocrine glands have been observed in both BALB/cJ and BALB/cByJ substrains.\n\nWhite et al. reported a variation in thioglycolate medium-induced peritoneal leukocyte recruitment in 4 analyzed strains. The response of total leukocyte recruitment, from greatest to least, was C57BL/6J>BALB/c>CD1>129X1/SvJ. Variations were also found in the timeline of response and cell types most impacted.\n\nBALB/c mice immunized with PLP180-199 develop an atypical form of experimental autoimmune encephalomyelitis (EAE) in which susceptibility is determined by location. In the spinal cord 60-70% mice develop pathological lesions and in the brain and cerebellum 100% of mice develop sever lesions.\n\nDorso-ventral vaginal septa is observed in some BALB/cJ females, and may contribute to non-productive females in this strain. (Cunliffe-Beamer T, Lab Anim Sci, 1976)\n synonym: "BALB/cJ" EXACT [] synonym: "BALBc" EXACT [] synonym: "C" EXACT [] xref: NIFSTD:birnlex_206 is_a: NCBITaxon:10090 ! Mus musculus property_value: definition:citation http://en.wikipedia.org/wiki/BALB/c xsd:string property_value: definition:citation https://www.jax.org/strain/000651 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000603 name: BALB/cByJ def: "BALB is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/001026.html" [] is_a: NCBITaxon:10090 ! Mus musculus property_value: definition:citation http://jaxmice.jax.org/strain/001026.html xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000604 name: C57BL/10 def: "C57BL/10 is a mouse strain as described in Jackson Laboratory http://www.informatics.jax.org/searches/reference.cgi?7550" [] is_a: EFO:0005181 ! C57BL property_value: definition:citation http://www.informatics.jax.org/searches/reference.cgi?7550 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000605 name: obsolete_C57BL/6 (duplicate) def: "C57BL/6 is a mouse strain as described in Jackson Laboratory http://www.informatics.jax.org/external/festing/mouse/docs/C57BL.shtml" [] xref: NIFSTD:birnlex_398 property_value: definition:citation http://www.informatics.jax.org/external/festing/mouse/docs/C57BL.shtml xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.5" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate of EFO_0000606" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000606 [Term] id: EFO:0000606 name: C57BL/6J def: "C57BL/6J is a mouse strain as described in Jackson Laboratory http://phenome.jax.org/db/q?rtn=strains/details&strainid=7" [] synonym: "C57BL6J" EXACT [] xref: NIFSTD:birnlex_393 is_a: EFO:0005181 ! C57BL property_value: definition:citation http://phenome.jax.org/db/q?rtn=strains/details&strainid=7 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000607 name: obsolete_mouse strain def: "Strain or line specific to mouse" [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.0.1" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "consolidation of strains with organism taxon. mouse strain subclasses are moved to mus musculus subclasses" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0004000 [Term] id: EFO:0000612 name: myocardial infarction def: "Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis." [NCIT:C27996] def: "NECROSIS of the MYOCARDIUM caused by an obstruction of the blood supply to the heart (CORONARY CIRCULATION)." [] synonym: "Attack - heart" EXACT [] synonym: "Cardiac infarction" EXACT [] synonym: "Cardiac infarction, NOS" EXACT [] synonym: "heart attack" EXACT [DOID:5844] synonym: "Heart attack, NOS" EXACT [] synonym: "Infarct, Myocardial" EXACT [] synonym: "INFARCTION (MI), MYOCARDIAL" EXACT [] synonym: "infarction (MI), myocardial" EXACT [NCIT:C27996] synonym: "Infarction of heart" EXACT [] synonym: "Infarction of heart, NOS" EXACT [] synonym: "Infarction, Myocardial" EXACT [] synonym: "Infarctions, Myocardial" EXACT [] synonym: "Infarcts, Myocardial" EXACT [] synonym: "MI" EXACT ABBREVIATION [NCIT:C27996] synonym: "MI - Myocardial infarction" EXACT [] synonym: "MI, MYOCARDIAL INFARCTION" EXACT [] synonym: "MI, myocardial infarction" EXACT [NCIT:C27996] synonym: "Myocardial Infarct" EXACT [] synonym: "myocardial infarct" EXACT [DOID:5844] synonym: "myocardial infarction" EXACT [MONDO:ambiguous] synonym: "myocardial infarction" EXACT [] {comment="preferred label from MONDO"} synonym: "myocardial infarction (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Myocardial infarction (disorder)" EXACT [] synonym: "Myocardial infarction NOS" EXACT [] synonym: "MYOCARDIAL INFARCTION, (MI)" EXACT [] synonym: "myocardial infarction, (MI)" EXACT [NCIT:C27996] synonym: "Myocardial infarction, NOS" EXACT [] synonym: "Myocardial Infarctions" EXACT [] synonym: "Myocardial Infarcts" EXACT [] xref: DOID:5844 {source="MONDO:equivalentTo", source="EFO:0000612"} xref: HP:0001658 {source="MONDO:otherHierarchy"} xref: ICD10CM:I21 {source="https://doi.org/10.1186/1472-6963-13-468", source="MONDO:equivalentTo", source="DOID:5844"} xref: MedDRA:10028596 xref: MESH:D009203 {source="MONDO:equivalentTo", source="DOID:5844", source="EFO:0000612"} xref: MeSH:D009203 xref: MONDO:0005068 xref: NCIT:C27996 {source="MONDO:equivalentTo", source="DOID:5844", source="EFO:0000612"} xref: NCIt:C27996 xref: OMIM:608446 xref: SCTID:22298006 {source="MONDO:equivalentTo", source="DOID:5844", source="EFO:0000612"} xref: SNOMEDCT:22298006 xref: UMLS:C0027051 {source="MONDO:equivalentTo", source="NCIT:C27996", source="DOID:5844"} is_a: MONDO:0024643 {source="NCIT:C27996"} ! myocardial disorder relationship: EFO:0000784 UBERON:0000948 ! has_disease_location heart property_value: exactMatch DOID:5844 property_value: exactMatch http://identifiers.org/mesh/D009203 property_value: exactMatch http://identifiers.org/snomedct/22298006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027051 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/I21 property_value: exactMatch NCIT:C27996 property_value: excluded_subClassOf MONDO:0005010 {source="DOID:5844"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000589 "myocardial infarction (disease)" xsd:string [Term] id: EFO:0000613 name: myxoid liposarcoma alt_id: MONDO:0003597 def: "A liposarcoma characterized by the presence of round non-lipogenic primitive mesenchymal cells and small signet ring lipoblasts within a myxoid stoma with a branching vascular pattern. This category includes hypercellular lesions with round cell morphology, formerly known as round cell liposarcoma." [NCIT:C27781] synonym: "mixed-type liposarcoma" RELATED [DOID:5709] synonym: "myxoid liposarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "myxoid liposarcoma" EXACT [DOID:5363, NCIT:C27781, NCIT:C3735, OMIM:613488] synonym: "myxoid liposarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "myxoid liposarcoma (morphologic abnormality)" EXACT [DOID:5363] synonym: "myxoid/round cell liposarcoma" BROAD [NCIT:C27781] synonym: "myxoid/round cell liposarcoma" EXACT [NCIT:C27781] synonym: "Myxoliposarcoma" RELATED [GARD:0007157] xref: DOID:5363 {source="MONDO:equivalentTo", source="EFO:0000613"} xref: DOID:5709 {source="MONDO:equivalentTo"} xref: EFO:0000613 {source="MONDO:equivalentTo"} xref: GARD:0007157 {source="MONDO:equivalentTo", source="OMIM-shared"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:8852/3 {source="NCIT:C27781"} xref: MESH:D018208 {source="MONDO:equivalentTo", source="EFO:0000613", source="DOID:5363"} xref: MONDO:0013280 xref: NCIT:C27781 {source="MONDO:equivalentTo", source="EFO:0000613", source="DOID:5709"} xref: OMIM:613488 {source="MONDO:equivalentTo", source="EFO:0000613", source="DOID:5363"} xref: SCTID:404069006 {source="MONDO:equivalentTo", source="EFO:0000613", source="DOID:5363"} is_a: MONDO:0017127 ! inherited soft tissue tumor is_a: MONDO:0020561 {source="Orphanet:99967/btnt"} ! myxoid/round cell liposarcoma is_a: MONDO:0023603 ! hereditary disorder of connective tissue is_a: Orphanet:271832 ! Genetic soft tissue tumor relationship: EFO:0000784 UBERON:0001013 ! has_disease_location adipose tissue property_value: closeMatch http://identifiers.org/snomedct/27849002 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0545074 property_value: exactMatch DOID:5363 property_value: exactMatch DOID:5363 property_value: exactMatch DOID:5709 property_value: exactMatch DOID:5709 property_value: exactMatch http://identifiers.org/mesh/D018208 property_value: exactMatch http://identifiers.org/mesh/D018208 property_value: exactMatch http://identifiers.org/omim/613488 property_value: exactMatch http://identifiers.org/snomedct/404069006 property_value: exactMatch http://identifiers.org/snomedct/404069006 property_value: exactMatch https://omim.org/entry/613488 property_value: exactMatch NCIT:C27781 property_value: exactMatch NCIT:C27781 [Term] id: EFO:0000614 name: obsolete_narcolepsy with cataplexy def: "A condition characterized by recurrent episodes of daytime somnolence and lapses in consciousness (microsomnias) that may be associated with automatic behaviors and AMNESIA. CATAPLEXY; SLEEP PARALYSIS, and hypnagogic HALLUCINATIONS frequently accompany narcolepsy. The pathophysiology of this disorder includes sleep-onset rapid eye movement (REM) sleep, which normally follows stage III or IV sleep. (From Neurology 1998 Feb;50(2 Suppl 1):S2-S7)" [] synonym: "Gelineau Syndrome" EXACT [] synonym: "Gelineau's Syndrome" EXACT [] synonym: "Gelineau's Syndromes" EXACT [] synonym: "Gelineaus Syndrome" EXACT [] synonym: "narcolepsy" EXACT [] synonym: "Narcolepsy (disorder)" EXACT [] synonym: "narcolepsy cataplexy" EXACT [] synonym: "narcolepsy cataplexy syndrome" EXACT [] synonym: "Narcolepsy NOS" EXACT [] synonym: "narcolepsy-cataplexy" EXACT [] synonym: "narcolepsy-cataplexy syndrome" EXACT [] synonym: "Narcoleptic Syndrome" EXACT [] synonym: "Narcoleptic Syndromes" EXACT [] synonym: "Paroxysmal Sleep" EXACT [] synonym: "Sleep, Paroxysmal" EXACT [] synonym: "Syndrome, Gelineau" EXACT [] synonym: "Syndrome, Gelineau's" EXACT [] synonym: "syndrome, narcolepsy cataplexy" EXACT [] synonym: "Syndrome, Narcoleptic" EXACT [] synonym: "Syndromes, Gelineau's" EXACT [] synonym: "Syndromes, Narcoleptic" EXACT [] xref: DOID:8986 xref: ICD9:347.0 xref: MedDRA:10028715 xref: MeSH:D009290 xref: NCIt:C84489 xref: OMIM:161400 xref: OMIM:614250 xref: SNOMEDCT:60380001 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.38.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replaced with Mondo term\nsee https://github.com/ebispot/efo/issues/1381" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/MONDO_0016158 [Term] id: EFO:0000616 name: neoplasm def: "A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." [NCIT:C3262] synonym: "cell process disease" BROAD DUBIOUS [DOID:14566] synonym: "disease of cellular proliferation" EXACT [MONDO:0002001] synonym: "neoplasia" EXACT [NCIT:C3262] synonym: "neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "neoplasm" EXACT [DOID:14566, MONDO:ambiguous, NCIT:C3262] synonym: "neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "neoplasm (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "neoplastic disease" EXACT [NCIT:C3262] synonym: "neoplastic growth" EXACT [NCIT:C3262] synonym: "other neoplasm" NARROW [NCIT:C3262] synonym: "tumor" EXACT [NCIT:C3262] synonym: "tumor disease" EXACT [] synonym: "tumour" EXACT OMO:0003005 [] synonym: "tumour disease" EXACT OMO:0003005 [] xref: COHD:438112 {source="MONDO:equivalentTo"} xref: DOID:14566 {source="MONDO:equivalentTo"} xref: EFO:0000616 {source="MONDO:equivalentTo"} xref: HP:0002664 {source="MONDO:otherHierarchy"} xref: ICD10:C00.D48 {source="MONDO:equivalentTo"} xref: ICD10CM:C00-D49 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:C7A-C7A {source="MONDO:mondoIsBroaderThanSource"} xref: ICD10CM:C7B-C7B {source="MONDO:mondoIsBroaderThanSource"} xref: ICD9:140-239.99 {source="EFO:0000616"} xref: ICD9:239.8 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:239.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:239.9 {source="MONDO:equivalentTo", source="i2s"} xref: ICD9:239.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D009369 {source="MONDO:equivalentTo", source="EFO:0000616"} xref: MONDO:0005070 xref: NCIT:C3262 {source="MONDO:equivalentTo", source="EFO:0000616"} xref: ONCOTREE:OTHER {source="MONDO:superClassOf"} xref: SCTID:55342001 {source="MONDO:equivalentTo"} xref: UMLS:CN236628 {source="MONDO:equivalentTo"} is_a: MONDO:0023370 {source="MONDO:Redundant", source="MONDO:cjm"} ! neoplastic disease or syndrome disjoint_from: EFO:0001460 ! uninfected disjoint_from: EFO:0006888 ! vascular malformation disjoint_from: EFO:0006891 ! breast adenosis property_value: closeMatch http://identifiers.org/snomedct/108369006 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0205394 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0375111 property_value: closeMatch NCIT:C17649 property_value: exactMatch DOID:14566 property_value: exactMatch DOID:14566 property_value: exactMatch http://identifiers.org/mesh/D009369 property_value: exactMatch http://identifiers.org/mesh/D009369 property_value: exactMatch http://identifiers.org/snomedct/55342001 property_value: exactMatch http://identifiers.org/snomedct/55342001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN236628 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN236628 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/C00-D49 property_value: exactMatch NCIT:C3262 property_value: exactMatch NCIT:C3262 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000589 "neoplasm (disease)" xsd:string property_value: narrowMatch http://purl.bioontology.org/ontology/ICD10CM/C7A-C7A property_value: narrowMatch http://purl.bioontology.org/ontology/ICD10CM/C7B-C7B [Term] id: EFO:0000617 name: obsolete_nerve cell def: "The basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system." [] xref: CL:0000540 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.8" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Detected as synonym for neuron, deprecated in favour of it." xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/CL_0000540 [Term] id: EFO:0000618 name: nervous system disease def: "a general class of medical conditions affecting the nervous system." [] def: "A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves." [NCIT:C26835] comment: 'psychiatric disorder' is not classified as a 'nervous system disorder' in Mondo (though it is often as such): the hallmarks of psychiatric disorders are based in behavior and emotional state, and the relation with nervous system malfunction or damage is not always clearly determined. subset: rare_grouping synonym: "disease of nervous system" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of nervous system" EXACT [] synonym: "disorder of nervous system" EXACT [MONDO:patterns/location_top, NCIT:C26835] synonym: "nervous system disease" EXACT [MONDO:patterns/location] synonym: "nervous system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "nervous system disorder" EXACT [NCIT:C26835] synonym: "nervous system disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "neurologic disease" EXACT [DOID:863] synonym: "neurologic disorder" EXACT [DOID:863, ISBN-13:978-1-259-64403-0, NCIT:C26835] synonym: "neurological disease" EXACT [DOID:863] synonym: "neurological disorder" EXACT [DOID:863] synonym: "neurological problem" EXACT [] xref: DOID:863 {source="EFO:0000618", source="MONDO:equivalentTo"} xref: ICD10:G98 xref: ICD10CM:G00-G99 {source="DOID:863", source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:349.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:349.9 {source="DOID:863", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10029202 xref: MESH:D009422 {source="DOID:863", source="MONDO:equivalentTo"} xref: MONDO:0005071 xref: NCIT:C26835 {source="DOID:863", source="MONDO:equivalentTo", source="NCIT:C26835"} xref: SCTID:118940003 {source="DOID:863", source="MONDO:equivalentTo"} xref: UMLS:C0027765 {source="DOID:863", source="MONDO:equivalentTo", source="NCIT:C26835"} xref: Wikipedia:Nervous_system_disease {source="EFO:0000618"} is_a: EFO:0000408 ! disease disjoint_from: EFO:0001460 ! uninfected property_value: exactMatch DOID:863 property_value: exactMatch http://identifiers.org/mesh/D009422 property_value: exactMatch http://identifiers.org/snomedct/118940003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027765 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G00-G99 property_value: exactMatch NCIT:C26835 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0000621 name: neuroblastoma def: "A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome (MeSH)." [] def: "A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2099-2101; Curr Opin Oncol 1998 Jan;10(1):43-51)" [] def: "A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation." [] def: "Neuroblastoma (NB) is the most common solid, extracranial childhood tumor. It is an aggressive pediatric cancer that originates from neural crest tissues of the sympathetic nervous system." [PMID:32903387] comment: NB is a disease of the sympaticoadrenal lineage of the neural crest, with tumors forming anywhere in the sympathetic nervous system. The tumors most commonly arise in the abdomen (65%), however, they also occur in the neck, chest, and pelvis. Approximately 50% of patients present with evidence of metastasis. Frequent metastasis sites include cortical bone, bone marrow, liver, and lymph nodes. The most common genetic change is MYCN amplification, which occurs in approximately 20% of patients, and is strongly correlated with advanced stage NB. Additionally, deletions of the short arm of chromosome 1 (1p) are found in 25–35% of patients and can be correlated with MYCN amplification. Outside of MYC linked changes, allelic loss of 11q is present in 35–45% of patients and is also associated with high-risk disease features. subset: gard_rare {source="GARD:0007185"} subset: ordo_disease {source="Orphanet:635"} synonym: "(neuroblastoma NOS) or (sympathicoblastoma)" EXACT [] synonym: "[M]Neuroblastoma NOS" EXACT [] synonym: "[M]Neuroblastoma NOS (morphologic abnormality)" EXACT [] synonym: "Central neuroblastoma" EXACT [] synonym: "NB" RELATED ABBREVIATION [GARD:0007185] synonym: "NB - Neuroblastoma" EXACT [] synonym: "neural Crest tumor, malignant" EXACT [NCIT:C3270] synonym: "neuroblastoma" EXACT [NCIT:C3270] synonym: "neuroblastoma" EXACT [] {comment="preferred label from MONDO"} synonym: "neuroblastoma (morphologic abnormality)" EXACT [] synonym: "neuroblastoma (Schwannian Stroma-Poor)" EXACT [] synonym: "neuroblastoma (Schwannian Stroma-poor)" EXACT [DOID:769, NCIT:C3270] synonym: "neuroblastoma NOS (morphologic abnormality)" EXACT [] synonym: "neuroblastoma, malignant" EXACT [NCIT:C3270] synonym: "Neuroblastoma, NOS" EXACT [] synonym: "Neuroblastomas" EXACT [] synonym: "Sympathicoblastoma" EXACT [] xref: DOID:769 {source="MONDO:equivalentTo", source="EFO:0000621"} xref: ICDO:9500/3 {source="NCIT:C3270"} xref: MedDRA:10029260 {source="Orphanet:635", source="Orphanet:635/e"} xref: MESH:D009447 {source="DOID:769", source="Orphanet:635", source="MONDO:equivalentTo", source="EFO:0000621", source="Orphanet:635/e"} xref: MeSH:D009447 xref: MONDO:0005072 xref: NCIT:C3270 {source="DOID:769", source="MONDO:equivalentTo", source="EFO:0000621"} xref: NCIt:C3270 xref: NIFSTD:birnlex_12631 {source="EFO:0000621"} xref: OMIM:256700 xref: OMIM:613013 xref: OMIM:613014 xref: ONCOTREE:NBL {source="MONDO:equivalentTo"} xref: Orphanet:635 {source="DOID:769", source="MONDO:equivalentTo"} xref: SCTID:432328008 {source="DOID:769", source="MONDO:equivalentTo", source="EFO:0000621"} xref: SNOMEDCT:432328008 xref: SNOMEDCT:87364003 xref: UMLS:C0027819 {source="NCIT:C3270", source="DOID:769", source="Orphanet:635", source="MONDO:equivalentTo", source="Orphanet:635/e"} xref: UMLS:CN205405 {source="MONDO:equivalentTo"} is_a: EFO:1000393 {source="NCIT:C3270"} ! Neuroblastic Tumor is_a: MONDO:0021635 {source="MONDO:cjm"} ! neurocristopathy property_value: closeMatch http://identifiers.org/meddra/10029260 property_value: exactMatch DOID:769 property_value: exactMatch http://identifiers.org/mesh/D009447 property_value: exactMatch http://identifiers.org/snomedct/432328008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027819 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205405 property_value: exactMatch NCIT:C3270 property_value: exactMatch Orphanet:635 property_value: excluded_subClassOf MONDO:0002366 {source="DOID:769"} property_value: excluded_subClassOf MONDO:0016713 {source="Orphanet:635"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7185/neuroblastoma xsd:anyURI {source="GARD:0007185"} [Term] id: EFO:0000622 name: neurofibroma def: "A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands (MeSH)." [] def: "A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands. (From Adams et al., Principles of Neurology, 6th ed, p1016)" [] def: "An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors." [] synonym: "[M]Neurofibroma NOS" EXACT [] synonym: "[M]Neurofibroma NOS (morphologic abnormality)" EXACT [] synonym: "[M]Neurofibromas" EXACT [] synonym: "Nerve sheath tumor" EXACT [] synonym: "Nerve sheath tumor (morphologic abnormality)" EXACT [] synonym: "Nerve sheath tumour" EXACT [] synonym: "Neurofibroma (disorder)" EXACT [] synonym: "Neurofibroma (morphologic abnormality)" EXACT [] synonym: "Neurofibroma (WHO Grade I)" EXACT [] synonym: "Neurofibroma NOS (morphologic abnormality)" EXACT [] synonym: "Neurofibroma, no ICD-O subtype" EXACT [] synonym: "Neurofibroma, no ICD-O subtype (morphologic abnormality)" EXACT [] synonym: "Neurofibroma, NOS" EXACT [] synonym: "Neurofibromas" EXACT [] xref: DOID:962 xref: MedDRA:10029267 xref: MeSH:D009455 xref: NCIt:C3272 xref: NIFSTD:birnlex_12604 xref: SNOMEDCT:404029005 xref: SNOMEDCT:89084002 is_a: EFO:0002431 ! tumour of cranial and spinal nerves property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000625 name: nevus def: "Nevus (or naevus, plural nevi or naevi, from nævus, Latin for \"birthmark\") is the medical term for sharply circumscribed[1] and chronic lesions of the skin or mucosa. These lesions are commonly named birthmarks or beauty marks. Nevi are benign by definition. However, 25% of malignant melanomas (a skin cancer) arise from pre-existing nevi.[2] Using the term nevus and nevi loosely, most physicians and dermatologists are actually referring to a variant of nevus called the \"melanocytic nevus\", which are composed of melanocytes. Histologically, melanocytic nevi are distinguished from lentigines (also a type of benign pigmented macule) by the presence of nests of melanocytes, which lentigines (plural form of lentigo) lack." [] synonym: "cutaneous nevi" EXACT [] synonym: "cutaneous nevus" EXACT [] synonym: "Mole NOS" EXACT [] synonym: "Mole of skin" EXACT [] synonym: "nevus (disorder)" EXACT [] synonym: "nevus, NOS" EXACT [] synonym: "skin mole, NOS" EXACT [] xref: MedDRA:10029384 xref: MedDRA:10029391 xref: MeSH:D009506 xref: OMIM:162900 xref: Wikipedia:Nevus is_a: EFO:0000701 ! skin disease is_a: EFO:0002422 ! benign neoplasm relationship: EFO:0000784 UBERON:0000014 ! has_disease_location zone of skin property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000626 name: obsolete_nucleic acid extracted def: "The type of nucleic acid obtained as a result of following a given protocol." [] comment: Not needed. property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000627 name: number of injections def: "The scalar number of injections administered to a material or organism." [] is_a: EFO:0001444 ! measurement property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000629 name: observational design def: "The act of regarding attentively and studying facts and occurrences, gathering data through analyzing, measuring, and drawing conclusions" [] is_a: EFO:0004667 ! biological variation design property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natalja Kurbatova" xsd:string [Term] id: EFO:0000630 name: oligoastrocytoma def: "A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)" [NCIT:C4050] subset: gard_rare {source="GARD:0009769"} subset: ordo_disease {source="Orphanet:251656"} synonym: "glioma, mixed, benign" EXACT [NCIT:C4050] synonym: "mixed astrocytic-oligodendroglial neoplasm" EXACT [NCIT:C4050] synonym: "mixed astrocytic-oligodendroglial tumor" EXACT [NCIT:C4050] synonym: "mixed astrocytic-oligodendroglial tumour" EXACT OMO:0003005 [] synonym: "mixed astrocytoma-oligodendroglioma" EXACT [NCIT:C4050] synonym: "mixed oligo-astrocytoma" EXACT [NCIT:C4050] synonym: "mixed oligoastrocytoma" EXACT [Orphanet:251656] synonym: "mixed oligodendroglioma-astrocytoma" EXACT [MONDO:0004395] synonym: "MOA" EXACT ABBREVIATION [Orphanet:251656] synonym: "oligoastrocytoma" EXACT [] {comment="preferred label from MONDO"} synonym: "oligoastrocytoma" EXACT [NCIT:C4050] synonym: "oligoastrocytoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "WHO grade II mixed glioma" EXACT [DOID:7912, NCIT:C4050] xref: DOID:7912 {source="MONDO:equivalentTo"} xref: EFO:0000630 {source="MONDO:equivalentTo"} xref: GARD:0009769 {source="MONDO:equivalentTo"} xref: ICD10:C71.9 {source="ORDO:251656/ntbt", source="Orphanet:251656"} xref: MedDRA:10027744 {source="Orphanet:251656/e", source="Orphanet:251656"} xref: MedDRA:10027744 {source="Orphanet:251656", source="ORDO:251656/e"} xref: MESH:D009837 {source="DOID:7912", source="MONDO:directSiblingOf"} xref: MONDO:0016702 xref: NCIT:C4050 {source="MONDO:equivalentTo", source="DOID:7912"} xref: ONCOTREE:OAST {source="MONDO:equivalentTo"} xref: Orphanet:251656 {source="MONDO:equivalentTo"} xref: SCTID:716647001 {source="MONDO:equivalentTo"} xref: UMLS:C0280793 {source="MONDO:equivalentTo", source="DOID:7912", source="Orphanet:251656", source="ORDO:251656/e", source="NCIT:C4050"} xref: UMLS:C0280793 {source="Orphanet:251656/e", source="MONDO:equivalentTo", source="DOID:7912", source="Orphanet:251656", source="NCIT:C4050"} is_a: MONDO:0016701 {source="Orphanet:251656"} ! oligoastrocytic tumor is_a: MONDO:0021639 {source="NCIT:C4050"} ! grade II glioma property_value: closeMatch http://identifiers.org/meddra/10027744 property_value: closeMatch http://identifiers.org/snomedct/22217002 property_value: exactMatch DOID:7912 property_value: exactMatch DOID:7912 property_value: exactMatch http://identifiers.org/meddra/10027744 property_value: exactMatch http://identifiers.org/snomedct/716647001 property_value: exactMatch http://identifiers.org/snomedct/716647001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280793 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280793 property_value: exactMatch NCIT:C4050 property_value: exactMatch NCIT:C4050 property_value: exactMatch Orphanet:251656 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9769/oligoastrocytoma xsd:anyURI {source="GARD:0009769"} [Term] id: EFO:0000631 name: obsolete_oligoastroglioma def: "A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2052; Adams et al., Principles of Neurology, 6th ed, p655)" [] def: "A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)" [] xref: DOID:7912 xref: MeSH:D009837 xref: NCIt:C4050 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.5" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate with oligoastrocytoma (EFO_0000630) use this instead" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000630 [Term] id: EFO:0000632 name: oligodendroglioma def: "A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO)" [NCIT:C3288] subset: ordo_disease {source="Orphanet:251627"} synonym: "oligodendroglial neoplasm" BROAD [DOID:3181] synonym: "oligodendroglial tumor" BROAD [DOID:3181, NCIT:C6960] synonym: "oligodendroglial tumour" BROAD OMO:0003005 [] synonym: "oligodendroglioma" EXACT [] {comment="preferred label from MONDO"} synonym: "oligodendroglioma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "oligodendroglioma" EXACT [NCIT:C3288] synonym: "well differentiated oligodendroglial tumor" EXACT [NCIT:C3288] synonym: "well differentiated oligodendroglial tumour" EXACT OMO:0003005 [] synonym: "well differentiated oligodendroglioma" EXACT [NCIT:C3288] synonym: "WHO grade II oligodendroglial neoplasm" EXACT [NCIT:C3288] synonym: "WHO grade II oligodendroglial tumor" EXACT [NCIT:C3288] synonym: "WHO grade II oligodendroglial tumour" EXACT OMO:0003005 [] xref: DOID:3181 {source="MONDO:equivalentTo"} xref: GARD:0009953 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10:C71.9 {source="Orphanet:251627"} xref: ICD10:C79.1 {source="ORDO:251627/ntbt"} xref: ICDO:9450/3 {source="NCIT:C3288"} xref: MedDRA:10030286 {source="Orphanet:251627/e", source="Orphanet:251627"} xref: MedDRA:10030286 {source="Orphanet:251627", source="ORDO:251627/e"} xref: MESH:D009837 {source="MONDO:equivalentTo", source="DOID:3181"} xref: MONDO:0016695 xref: NCIT:C3288 {source="ONCOTREE:ODG", source="MONDO:equivalentTo"} xref: OMIM:137800 xref: ONCOTREE:ODG {source="MONDO:equivalentTo"} xref: Orphanet:251627 {source="MONDO:equivalentTo"} is_a: MONDO:0018744 {source="MONDO:Redundant", source="NCIT:C3288", source="Orphanet:251627"} ! oligodendroglial tumor is_a: MONDO:0021639 {source="MONDO:Redundant", source="NCIT:C3288"} ! grade II glioma intersection_of: MONDO:0018744 ! oligodendroglial tumor intersection_of: has_characteristic MONDO:0024492 ! tumor grade 2, general grading system property_value: closeMatch http://identifiers.org/meddra/10030286 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751396 property_value: exactMatch DOID:3181 property_value: exactMatch DOID:3181 property_value: exactMatch http://identifiers.org/meddra/10030286 property_value: exactMatch http://identifiers.org/mesh/D009837 property_value: exactMatch http://identifiers.org/mesh/D009837 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0028945 property_value: exactMatch NCIT:C3288 property_value: exactMatch NCIT:C3288 property_value: exactMatch Orphanet:251627 [Term] id: EFO:0000633 name: operator variation def: "A measurement of the effects of different investigators, laboratories, or organizations on experimental results are studied." [] synonym: "OperatorVariation" EXACT [] xref: MO:38 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:0002694 ! is_about experimental process property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000635 name: organism part def: "The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." [] synonym: "organism_part" EXACT [] xref: MO:954 xref: NCIt:C103199 is_a: BFO:0000040 ! material entity property_value: branch:class "true" xsd:string property_value: IAO:0000112 "tissue, organ, system, sperm, blood or body location (arm)." xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000636 name: obsolete_organism status def: "The stage premortem or postmortem at which the sample was processed for extraction of biomaterials. e.g. alive or dead" [] comment: Use PATO qualities , e.g. dead property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000637 name: osteosarcoma def: "A usually aggressive malignant bone-forming mesenchymal neoplasm, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs." [NCIT:C9145] synonym: "bone tissue neoplasm" BROAD [DOID:3347] synonym: "OS" EXACT [] synonym: "osteogenic sarcoma" EXACT [DOID:3347, NCIT:C9145, OMIM:259500, Orphanet:668] synonym: "osteoid sarcoma" EXACT [DOID:3347, MONDO:patterns/location] synonym: "osteoid sarcoma" EXACT [CSP2005:2019-1578, DOID:3347, MONDO:patterns/location] synonym: "osteosarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "osteosarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "osteosarcoma" EXACT [MONDO:ambiguous, NCIT:C9145] synonym: "osteosarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "osteosarcoma, malignant" EXACT [NCIT:C9145] synonym: "sarcoma of osteoid" EXACT [MONDO:patterns/sarcoma] xref: DOID:3347 {source="MONDO:equivalentTo", source="EFO:0000637"} xref: EFO:0000637 {source="MONDO:equivalentTo"} xref: HP:0002669 {source="MONDO:otherHierarchy"} xref: ICDO:9180/3 {source="NCIT:C9145"} xref: MESH:D012516 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: MONDO:0009807 xref: NCIT:C9145 {source="MONDO:equivalentTo", source="DOID:3347", source="EFO:0000637"} xref: OMIM:259500 xref: ONCOTREE:OS {source="MONDO:equivalentTo"} is_a: EFO:0000691 {source="DOID:3347", source="EFO:0000637", source="MONDO:Entailed", source="NCIT:C9145"} ! sarcoma is_a: EFO:0004260 ! bone disease relationship: EFO:0000784 UBERON:0001474 ! has_disease_location bone element property_value: closeMatch http://identifiers.org/mesh/D018213 property_value: closeMatch http://identifiers.org/snomedct/189878003 property_value: closeMatch http://identifiers.org/snomedct/21708004 property_value: closeMatch http://identifiers.org/snomedct/408387006 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0206639 property_value: exactMatch DOID:3347 property_value: exactMatch DOID:3347 property_value: exactMatch http://identifiers.org/mesh/D012516 property_value: exactMatch NCIT:C9145 property_value: exactMatch NCIT:C9145 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5537 xsd:anyURI property_value: IAO:0000589 "osteosarcoma (disease)" xsd:string [Term] id: EFO:0000638 name: overall survival def: "A measurement of the survival rate for a group of individuals suffering from a disease." [] is_a: EFO:0000714 ! survival time is_a: EFO:0004557 ! population measurement relationship: IAO:0000136 OBI:0000181 ! is_about population property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000639 name: papillary cystadenocarcinoma def: "A malignant cystic serous or mucinous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present." [NCIT:C3777] subset: gard_rare {source="GARD:0010162"} synonym: "cystadenocarcinoma, papillary, malignant" EXACT [NCIT:C3777] synonym: "papillary cystadenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "papillary cystadenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "papillary cystadenocarcinoma" EXACT [DOID:3110, NCIT:C3777] synonym: "papillary cystadenocarcinoma (morphologic abnormality)" EXACT [DOID:3110] synonym: "papillary cystadenocarcinoma, NOS (morphologic abnormality)" EXACT [DOID:3110] xref: DOID:3110 {source="MONDO:equivalentTo", source="EFO:0000639"} xref: EFO:0000639 {source="MONDO:equivalentTo"} xref: GARD:0010162 {source="MONDO:equivalentTo"} xref: ICDO:8450/3 {source="NCIT:C3777"} xref: MESH:D018283 {source="DOID:3110", source="MONDO:equivalentTo", source="EFO:0000639"} xref: MONDO:0005074 xref: NCIT:C3777 {source="DOID:3110", source="MONDO:equivalentTo", source="exact-label-match", source="EFO:0000639"} xref: NCIT:C3777 {source="DOID:3110", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:0000639"} xref: UMLS:C0206700 {source="DOID:3110", source="MONDO:equivalentTo", source="NCIT:C3777"} is_a: EFO:0006387 {source="DOID:3110", source="MESH:D018283", source="NCIT:C3777"} ! cystadenocarcinoma is_a: EFO:1000448 {source="NCIT:C3777"} ! Papillary Cystic Neoplasm is_a: MONDO:0002512 {source="NCIT:C3777"} ! papillary adenocarcinoma property_value: closeMatch http://identifiers.org/snomedct/189687009 property_value: closeMatch http://identifiers.org/snomedct/2735009 property_value: exactMatch DOID:3110 property_value: exactMatch DOID:3110 property_value: exactMatch http://identifiers.org/mesh/D018283 property_value: exactMatch http://identifiers.org/mesh/D018283 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206700 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206700 property_value: exactMatch NCIT:C3777 property_value: exactMatch NCIT:C3777 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10162/papillary-cystadenocarcinoma xsd:anyURI {source="GARD:0010162"} [Term] id: EFO:0000640 name: papillary renal cell carcinoma def: "A rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-DubC) syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma." [Orphanet:319298] def: "Papillary renal cell carcinoma is a rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-DubC) syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma." [Orphanet:319298] subset: gard_rare {source="GARD:0009572"} subset: ordo_disease {source="Orphanet:47044", source="Orphanet:319298"} synonym: "chromophil carcinoma of kidney" EXACT [DOID:4465, NCIT:C6975] synonym: "chromophil carcinoma of the kidney" EXACT [NCIT:C6975] synonym: "chromophil RCC" RELATED [GARD:0009575] synonym: "chromophil renal cell carcinoma" EXACT [NCIT:C6975] synonym: "HPRCC" EXACT ABBREVIATION [Orphanet:47044] synonym: "papillary (chromophil) renal cell carcinoma" EXACT [NCIT:C6975] synonym: "papillary kidney carcinoma" EXACT [DOID:4465] synonym: "papillary renal carcinoma, malignant - (subtype)" RELATED [GARD:0009572] synonym: "papillary renal cell adenocarcinoma" EXACT [Orphanet:319298] synonym: "papillary renal cell cancer" EXACT [NCIT:C6975] synonym: "papillary renal cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "papillary renal cell carcinoma" EXACT [DOID:4465, NCIT:C6975] synonym: "papillary renal cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "papillary renal cell carcinoma, bilateral - (subtype)" RELATED [GARD:0009572] synonym: "papillary renal cell carcinoma, familial - (subtype)" RELATED [GARD:0009572] synonym: "papillary renal cell carcinoma, multiple - (subtype)" RELATED [GARD:0009572] synonym: "papillary renal cell carcinoma, sporadic - (subtype)" RELATED [GARD:0009572] synonym: "RCCP" RELATED ABBREVIATION [GARD:0009572] synonym: "RCCP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605074] synonym: "renal adenocarcinoma" RELATED [GARD:0009572] synonym: "renal cell carcinoma, papillary, 1" RELATED [MONDO:Lexical, OMIM:605074] synonym: "renal cell carcinoma, papillary, type 1" EXACT [MONDORULE:1, OMIM:605074] synonym: "sporadic papillary renal cell carcinoma" EXACT [DOID:4465] xref: DOID:4465 {source="EFO:0000640", source="MONDO:equivalentTo"} xref: EFO:0000640 {source="MONDO:equivalentTo"} xref: GARD:0009572 {source="MONDO:equivalentTo"} xref: GARD:0009575 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: ICD10:C64 {source="ORDO:47044/attributed", source="ORDO:47044/ntbt", source="ORDO:319298/ntbt", source="Orphanet:47044", source="Orphanet:319298"} xref: MONDO:0017884 xref: NCIT:C6975 {source="DOID:4465", source="EFO:0000640", source="MONDO:equivalentTo"} xref: OMIM:605074 {source="DOID:4465", source="EFO:0000640", source="MONDO:equivalentTo", source="ORDO:47044/e", source="Orphanet:47044"} xref: ONCOTREE:PRCC {source="MONDO:equivalentTo"} xref: Orphanet:319298 {source="MONDO:equivalentTo"} xref: Orphanet:47044 {source="MONDO:equivalentTo", source="OMIM:605074"} xref: SCTID:733608000 {source="MONDO:equivalentTo"} xref: UMLS:C1306837 {source="DOID:4465", source="MONDO:equivalentTo", source="ORDO:319298/e", source="NCIT:C6975", source="Orphanet:319298"} xref: UMLS:C1306837 {source="DOID:4465", source="MONDO:equivalentTo", source="NCIT:C6975", source="Orphanet:319298", source="Orphanet:319298/e"} xref: UMLS:C1336078 {source="DOID:4465", source="MONDO:equivalentTo"} xref: UMLS:CN205129 {source="MONDO:equivalentTo"} is_a: EFO:0005708 {source="MONDO:Redundant", source="NCIT:C6975"} ! renal cell adenocarcinoma is_a: MONDO:0002512 {source="NCIT:C6975"} ! papillary adenocarcinoma relationship: EFO:0000784 UBERON:0002113 ! has_disease_location kidney property_value: closeMatch http://identifiers.org/snomedct/4797003 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1336839 property_value: closeMatch NCIT:C27890 property_value: exactMatch DOID:4465 property_value: exactMatch DOID:4465 property_value: exactMatch http://identifiers.org/mesh/C538614 property_value: exactMatch http://identifiers.org/omim/605074 property_value: exactMatch http://identifiers.org/snomedct/733608000 property_value: exactMatch http://identifiers.org/snomedct/733608000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1306837 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1306837 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336078 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336078 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931899 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205129 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205129 property_value: exactMatch NCIT:C6975 property_value: exactMatch NCIT:C6975 property_value: exactMatch Orphanet:319298 property_value: exactMatch Orphanet:47044 property_value: excluded_subClassOf MONDO:0017891 {source="Orphanet:47044"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9572/papillary-renal-cell-carcinoma xsd:anyURI {source="GARD:0009572"} [Term] id: EFO:0000641 name: papillary thyroid carcinoma def: "A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. Radiation exposure is a risk factor and it is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei. The nuclei also display clearing or have a ground glass appearance." [NCIT:C4035] synonym: "papillary cancer of the thyroid" EXACT [NCIT:C4035] synonym: "papillary cancer of the thyroid gland" EXACT [NCIT:C4035] synonym: "papillary cancer of thyroid" EXACT [NCIT:C4035] synonym: "papillary cancer of thyroid gland" EXACT [NCIT:C4035] synonym: "papillary carcinoma of the thyroid" EXACT [NCIT:C4035] synonym: "papillary carcinoma of the thyroid gland" EXACT [DOID:3969, NCIT:C4035] synonym: "papillary carcinoma of thyroid" EXACT [NCIT:C4035] synonym: "papillary carcinoma of thyroid gland" EXACT [NCIT:C4035] synonym: "papillary thyroid cancer" EXACT [NCIT:C4035] synonym: "papillary thyroid carcinoma" EXACT [MONDO:ambiguous, NCIT:C4035] synonym: "papillary thyroid gland carcinoma" EXACT [NCIT:C4035] synonym: "PTC" EXACT [] synonym: "thyroid gland papillary cancer" EXACT [NCIT:C4035] synonym: "thyroid gland papillary carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "thyroid gland papillary carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "thyroid gland papillary carcinoma" EXACT [NCIT:C4035] synonym: "thyroid papillary carcinoma" EXACT [NCIT:C4035] xref: DOID:3969 {source="MONDO:equivalentTo", source="EFO:0000641"} xref: EFO:0000641 {source="MONDO:equivalentTo"} xref: GARD:0012027 {source="shared-xref", source="MONDO:equivalentTo"} xref: HP:0002895 {source="MONDO:otherHierarchy"} xref: MONDO:0005075 xref: NCIT:C4035 {source="MONDO:equivalentTo", source="EFO:0000641", source="DOID:3969"} xref: OMIM:188550 xref: ONCOTREE:THPA {source="MONDO:equivalentTo"} xref: SCTID:255029007 {source="MONDO:equivalentTo", source="EFO:0000641", source="DOID:3969"} xref: UMLS:C0238463 {source="MONDO:equivalentTo", source="NCIT:C4035", source="DOID:3969"} is_a: EFO:1002017 {source="EFO:0000641", source="NCIT:C4035", source="ONCOTREE:THPA"} ! differentiated thyroid carcinoma is_a: MONDO:0002512 {source="MONDO:Redundant", source="NCIT:C4035"} ! papillary adenocarcinoma is_a: MONDO:0024622 ! thyroid gland adenocarcinoma relationship: EFO:0000784 UBERON:0002046 ! has_disease_location thyroid gland property_value: closeMatch http://identifiers.org/mesh/D000077273 property_value: closeMatch http://identifiers.org/snomedct/4797003 property_value: exactMatch DOID:3969 property_value: exactMatch DOID:3969 property_value: exactMatch http://identifiers.org/snomedct/255029007 property_value: exactMatch http://identifiers.org/snomedct/255029007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238463 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238463 property_value: exactMatch NCIT:C4035 property_value: exactMatch NCIT:C4035 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0000643 name: pathogen def: "A biological agent that causes disease or illness to its host" [] xref: NCIt:C80324 is_a: CHEBI:24432 ! biological role property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000644 name: pathogen test def: "Tests and results for pathogens infecting organism from which the biosource is derived" [] synonym: "PathogenTest" EXACT [] xref: MO:184 is_a: EFO:0002694 ! experimental process property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000645 name: obsolete_percent oxygen property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000646 name: obsolete_percent oxygen concentration property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000647 name: experiment performer def: "An individual who does some experimental process." [] is_a: BFO:0000023 ! role relationship: RO:0000081 NCBITaxon:9606 ! role_of Homo sapiens property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000648 name: period of infection is_a: EFO:0004949 ! clinical temporal measurement property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000649 name: periodontitis def: "An acute or chronic inflammatory process that affects the tissues that surround and support the teeth." [NCIT:P378] def: "Inflammation and loss of connective tissues supporting or surrounding the teeth. This may involve any part of the PERIODONTIUM. Periodontitis is currently classified by disease progression (CHRONIC PERIODONTITIS; AGGRESSIVE PERIODONTITIS) instead of age of onset. (From 1999 International Workshop for a Classification of Periodontal Diseases and Conditions, American Academy of Periodontology)" [] synonym: "chronic pericementitis" EXACT [DOID:824] synonym: "inflammation of periodontium" EXACT [] synonym: "Pericementitides" EXACT [] synonym: "Pericementitis" EXACT [] synonym: "Periodontitides" EXACT [] synonym: "periodontitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Periodontitis (disorder)" EXACT [] synonym: "Periodontitis, NOS" EXACT [] synonym: "periodontium inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "periodontosis" RELATED DEPRECATED [DOID:9893, https://en.wikipedia.org/wiki/Periodontosis] xref: DOID:824 {source="MONDO:equivalentTo", source="EFO:0000649"} xref: DOID:9893 {source="MONDO:equivalentTo"} xref: ICD10:K05 xref: ICD10CM:K05.4 {source="MONDO:equivalentTo", source="DOID:9893"} xref: ICD9:523.5 {source="DOID:9893"} xref: MedDRA:10034539 xref: MESH:D010518 {source="DOID:824", source="MONDO:equivalentTo", source="EFO:0000649"} xref: MeSH:D010518 xref: MESH:D010520 {source="MONDO:relatedTo", source="DOID:9893"} xref: MONDO:0005076 xref: NCIT:C34918 {source="DOID:824", source="MONDO:equivalentTo", source="EFO:0000649"} xref: NCIt:C34918 xref: OMIM:170650 xref: OMIM:260950 xref: SCTID:41565005 {source="DOID:824", source="MONDO:equivalentTo", source="EFO:0000649"} xref: SNOMEDCT:41565005 xref: UMLS:C0031099 {source="DOID:824", source="NCIT:C34918", source="MONDO:equivalentTo"} xref: UMLS:C0600298 {source="MONDO:equivalentTo", source="DOID:9893"} is_a: EFO:0000524 ! head and neck disorder is_a: EFO:0009903 {source="MONDO:Redundant"} ! inflammatory disease is_a: MONDO:0002635 {source="DOID:824", source="MESH:D010518", source="MONDO:Redundant", source="NCIT:C34918"} ! periodontal disorder property_value: exactMatch DOID:824 property_value: exactMatch DOID:9893 property_value: exactMatch http://identifiers.org/mesh/D010518 property_value: exactMatch http://identifiers.org/snomedct/41565005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031099 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0600298 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K05.4 property_value: exactMatch NCIT:C34918 property_value: excluded_subClassOf MONDO:0006999 {source="DOID:9893"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000650 name: whooping cough def: "A commensal Alcaligenaceae infectious disease and is_a respiratory system disease that is caused by bacteria of the genus Bordetella characterized by a prolonged, high-pitched, deeply indrawn breath (whoop). The bacterium Bordetella pertussis causes a highly contagious form of whooping cough, and a milder disease is caused by Bordetella parapertussis." [] def: "A contagious bacterial respiratory infection caused by Bordetella pertussis. It is characterized by severe and uncontrollable cough, resulting in a whooping sound during breathing following the cough." [NCIT:P378] def: "A respiratory infection caused by BORDETELLA PERTUSSIS and characterized by paroxysmal coughing ending in a prolonged crowing intake of breath." [] def: "A respiratory system infectious disease that is caused by bacteria of the genus Bordetella characterized by a prolonged, high-pitched, deeply indrawn breath (whoop). The bacterium Bordetella pertussis causes a highly contagious form of whooping cough, and a milder disease is caused by Bordetella parapertussis." [] subset: gard_rare {source="GARD:0008692"} subset: ordo_disease {source="Orphanet:1489"} synonym: "Bordetella infection" BROAD [DOID:1116] synonym: "Bordetella pertussis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Bordetella pertussis disease or disorder" EXACT [] synonym: "Bordetella pertussis infection" EXACT [GARD:0008692] synonym: "Bordetella pertussis infectious disease" EXACT [] synonym: "infection due to Bordetella pertussis" RELATED [] synonym: "pertussis" EXACT [] {comment="preferred label from MONDO"} synonym: "pertussis" EXACT [Orphanet:1489] synonym: "WC - whooping cough" EXACT [DOID:1116] synonym: "whooping cough" EXACT [DOID:1116] xref: DOID:1116 {source="EFO:0000650", source="MONDO:equivalentTo"} xref: ICD10CM:A37.1 {source="Orphanet:1489", source="MONDO:directSiblingOf", source="Orphanet:1489/btnt"} xref: ICD9:033 {source="EFO:0000650"} xref: ICD9:033.0 xref: ICD9:033.9 xref: MedDRA:10034738 {source="Orphanet:1489", source="Orphanet:1489/e"} xref: MedDRA:10047974 {source="Orphanet:1489", source="Orphanet:1489/e"} xref: MedDRA:10047978 xref: MESH:D014917 {source="EFO:0000650", source="MONDO:equivalentTo", source="Orphanet:1489", source="DOID:1116", source="Orphanet:1489/e"} xref: MeSH:D014917 xref: MONDO:0005077 xref: NCIT:C85231 {source="EFO:0000650", source="MONDO:equivalentTo"} xref: NCIt:C85231 xref: Orphanet:1489 {source="MONDO:equivalentTo"} xref: SCTID:27836007 {source="EFO:0000650", source="MONDO:equivalentTo"} xref: SNOMEDCT:27836007 xref: UMLS:C0043167 {source="MONDO:equivalentTo", source="Orphanet:1489", source="NCIT:C85231", source="Orphanet:1489/e"} is_a: EFO:0000684 ! respiratory system disease is_a: MONDO:0037872 {source="MONDO:Redundant"} ! bordetellosis relationship: EFO:0000784 UBERON:0001004 ! has_disease_location respiratory system relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare relationship: RO:0000057 NCBITaxon:520 ! has_participant Bordetella pertussis property_value: closeMatch http://identifiers.org/meddra/10034738 property_value: closeMatch http://identifiers.org/meddra/10047974 property_value: exactMatch DOID:1116 property_value: exactMatch http://identifiers.org/mesh/D014917 property_value: exactMatch http://identifiers.org/snomedct/27836007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043167 property_value: exactMatch NCIT:C85231 property_value: exactMatch Orphanet:1489 property_value: excluded_subClassOf MONDO:0000315 {source="DOID:1116"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8692/whooping-cough xsd:anyURI {source="GARD:0008692"} [Term] id: EFO:0000651 name: phenotype def: "The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease. The detectable outward manifestations of a specific genotype." [] xref: MeSH:D010641 xref: MO:192 xref: NCIt:C16977 xref: NIFSTD:birnlex_2087 xref: SNOMEDCT:8116006 is_a: BFO:0000019 ! quality property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000652 name: obsolete_phenotypic factor comment: phenotype is synonymous with quality property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000653 name: phyllodes tumor def: "A benign, borderline, or malignant fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It may recur following resection. The recurrence rates are higher for borderline and malignant phyllodes tumors. In borderline and malignant phyllodes tumors metastases to distant anatomic sites can occur. The incidence of metastases is higher in malignant phyllodes tumors." [NCIT:C2977] comment: Note that this class covers both breast and prostate phyllodes tumors synonym: "CSP" EXACT ABBREVIATION [NCIT:C2977] synonym: "cystosarcoma phyllodes" EXACT [NCIT:C2977] synonym: "phyllodes neoplasm" EXACT [NCIT:C2977] synonym: "phyllodes tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "phyllodes tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "phyllodes tumor" EXACT [NCIT:C2977] xref: EFO:0000653 {source="MONDO:equivalentTo"} xref: MESH:D003557 {source="EFO:0000653", source="MONDO:equivalentTo"} xref: MONDO:0005078 xref: NCIT:C2977 {source="EFO:0000653", source="MONDO:equivalentTo"} is_a: EFO:0007271 {source="NCIT:C2977"} ! fibroepithelial neoplasm property_value: closeMatch http://identifiers.org/snomedct/189826001 property_value: closeMatch http://identifiers.org/snomedct/71232009 property_value: exactMatch http://identifiers.org/mesh/D003557 property_value: exactMatch http://identifiers.org/mesh/D003557 property_value: exactMatch NCIT:C2977 property_value: exactMatch NCIT:C2977 [Term] id: EFO:0000657 name: obsolete_platform def: "The specific version (such as manufacturer, model, etc.) of a technology that is used to carry out a laboratory or computational experiment." [] comment: obsolete platform because the distinction between instrument and platform is very fuzzy property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000658 name: plexiform neurofibroma def: "A type of neurofibroma manifesting as a diffuse overgrowth of subcutaneous tissue, usually involving the face, scalp, neck, and chest but occasionally occurring in the abdomen or pelvis. The tumors tend to progress, and may extend along nerve roots to eventually involve the spinal roots and spinal cord. This process is almost always a manifestation of NEUROFIBROMATOSIS 1 (MeSH)." [] def: "A type of neurofibroma manifesting as a diffuse overgrowth of subcutaneous tissue, usually involving the face, scalp, neck, and chest but occasionally occurring in the abdomen or pelvis. The tumors tend to progress, and may extend along nerve roots to eventually involve the spinal roots and spinal cord. This process is almost always a manifestation of NEUROFIBROMATOSIS 1. (From Adams et al., Principles of Neurology, 6th ed, p1016; J Pediatr 1997 Nov;131(5):678-82)" [] def: "An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.)" [] synonym: "Elephantiasis Neuromatoses" EXACT [] synonym: "Elephantiasis Neuromatosis" EXACT [] synonym: "Neurofibroma, Plexiform" EXACT [] synonym: "Neurofibromas, Plexiform" EXACT [] synonym: "Neuroma, Plexiform" EXACT [] synonym: "Neuromas, Plexiform" EXACT [] synonym: "Pachydermatocele" EXACT [] synonym: "Pachydermatoceles" EXACT [] synonym: "Plexiform neurofibroma (disorder)" EXACT [] synonym: "Plexiform neurofibroma (morphologic abnormality)" EXACT [] synonym: "Plexiform Neurofibromas" EXACT [] synonym: "Plexiform Neuroma" EXACT [] synonym: "Plexiform Neuromas" EXACT [] synonym: "Tumor Royale" EXACT [] xref: DOID:5151 xref: MedDRA:10065866 xref: MeSH:D018318 xref: NCIt:C3797 xref: NIFSTD:birnlex_12606 xref: SNOMEDCT:403818001 xref: SNOMEDCT:41252002 is_a: EFO:0000622 ! neurofibroma property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000659 name: obsolete_ploidy def: "The number of single sets of chromosomes in the cell or an organism e.g., haploid, diploid, triploid, etc." [] xref: MO:220 xref: NCIt:C17001 xref: SNOMEDCT:88183001 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.71" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "moving toward PATO space, use PATO_0001374 instead" xsd:string property_value: IAO:0000112 "haploid, diploid, triploid" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PATO_0001374 [Term] id: EFO:0000660 name: polycystic ovary syndrome def: "A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading." [] def: "A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity." [NCIT:P378] synonym: "Cystic disease of ovaries" EXACT [] synonym: "hyperandrogenemia" RELATED [OMIM:184700] synonym: "Multicystic ovaries" EXACT [] synonym: "multicystic ovaries" EXACT [DOID:11612] synonym: "Ovarian Degeneration, Sclerocystic" EXACT [] synonym: "Ovarian Syndrome, Polycystic" EXACT [] synonym: "Ovarian Syndromes, Polycystic" EXACT [] synonym: "Ovaries, Sclerocystic" EXACT [] synonym: "Ovary Syndrome, Polycystic" EXACT [] synonym: "Ovary, Sclerocystic" EXACT [] synonym: "PCO - Polycystic ovaries" EXACT [] synonym: "PCO1" RELATED [OMIM:184700] synonym: "PCOD - Polycystic ovarian disease" EXACT [] synonym: "PCOS" EXACT ABBREVIATION [DOID:11612, OMIM:184700, Orphanet:3185] synonym: "PCOS - Polycystic ovarian syndrome" EXACT [] synonym: "PCOS1" NARROW ABBREVIATION [MONDO:Lexical, OMIM:184700] synonym: "Polycystic ovarian disease" EXACT [] synonym: "polycystic ovarian disease" EXACT [DOID:11612, NCIT:C27086] synonym: "Polycystic ovarian syndrome" EXACT [] synonym: "Polycystic ovaries" EXACT [] synonym: "polycystic ovaries" EXACT [DOID:11612, ICD9CM:256.4] synonym: "Polycystic ovaries (disorder)" EXACT [] synonym: "polycystic ovary" EXACT [DOID:11612] synonym: "polycystic ovary syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "polycystic ovary syndrome" EXACT [DOID:11612] synonym: "polycystic ovary syndrome 1" NARROW [MONDO:Lexical, OMIM:184700, OMIM:genemap2] synonym: "Sclerocystic Ovarian Degeneration" EXACT [] synonym: "Sclerocystic Ovaries" EXACT [] synonym: "Sclerocystic Ovary" EXACT [] synonym: "Sclerocystic Ovary Syndrome" EXACT [] synonym: "Stein Leventhal Syndrome" EXACT [] synonym: "Stein-Leventhal synd." EXACT [DOID:11612] synonym: "Stein-Leventhal Syndrome" EXACT [] synonym: "Stein-Leventhal syndrome" EXACT [DOID:11612, NCIT:C26862, OMIM:184700, Orphanet:3185] synonym: "Syndrome, Polycystic Ovary" EXACT [] synonym: "Syndrome, Stein-Leventhal" EXACT [] xref: DOID:11612 {source="EFO:0000660", source="MONDO:equivalentTo"} xref: ICD9:256.4 {source="EFO:0000660", source="DOID:11612", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D011085 {source="EFO:0000660", source="DOID:11612", source="MONDO:equivalentTo"} xref: MeSH:D011085 xref: MONDO:0008487 xref: NCIT:C26862 {source="EFO:0000660", source="DOID:11612", source="MONDO:equivalentTo"} xref: NCIt:C26862 xref: OMIM:184700 {source="EFO:0000660", source="DOID:11612", source="MONDO:equivalentTo"} xref: Orphanet:3185 {source="OMIM:184700", source="MONDO:equivalentObsolete"} xref: SCTID:69878008 {source="EFO:0000660", source="DOID:11612", source="MONDO:equivalentTo"} xref: SNOMEDCT:69878008 xref: UMLS:C0032460 {source="OMIM:184700", source="DOID:11612", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C26862"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: EFO:0001379 {source="EFO:0000660", source="MESH:D011085/inferred"} ! endocrine system disease is_a: EFO:0005771 ! ovarian disease is_a: MONDO:0002254 {source="DOID:11612", source="NCIT:C26862"} ! syndromic disease relationship: EFO:0000784 UBERON:0000992 ! has_disease_location ovary property_value: exactMatch DOID:11612 property_value: exactMatch http://identifiers.org/mesh/D011085 property_value: exactMatch http://identifiers.org/snomedct/69878008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032460 property_value: exactMatch https://omim.org/entry/184700 property_value: exactMatch NCIT:C26862 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: EFO:0000661 name: obsolete_polymorphonuclear leukocyte def: "A fully differentiated eosinophil, a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin." [] def: "A fully differentiated eosinophil, a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin. Cells are also differentiated from other granulocytes by a small nuclear-to-cytoplasm ratio (1:3). This cell type is CD49d-positive." [] def: "Any fully developed granular leukocyte whose nucleus contains multiple lobes joined by filamentous connections, especially a neutrophil." [] xref: BTO:0001026 property_value: definition:citation "CL_0000041" xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.13.1" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "broad synonym for a number of heamatological cells" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000662 name: polyp def: "A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations." [] def: "A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations. -- 2004" [] def: "A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations." [NCIT:C3340] def: "Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base." [] synonym: "polyp" EXACT [NCIT:C3340] synonym: "polyp" EXACT [] {comment="preferred label from MONDO"} synonym: "polyp (morphologic abnormality)" EXACT [] synonym: "polyps" EXACT [] xref: ICD10CM:N84 {source="MONDO:equivalentTo"} xref: MedDRA:10061529 xref: MESH:D011127 {source="EFO:0000662", source="MONDO:equivalentTo"} xref: MeSH:D011127 xref: MONDO:0005079 xref: NCIT:C3340 {source="EFO:0000662", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIt:C3340 xref: SCTID:441456002 {source="EFO:0000662", source="MONDO:equivalentTo"} xref: SNOMEDCT:41329004 xref: SNOMEDCT:441456002 is_a: MONDO:0045024 {source="https://github.com/monarch-initiative/mondo/issues/1014"} ! cancer or benign tumor property_value: exactMatch http://identifiers.org/mesh/D011127 property_value: exactMatch http://identifiers.org/snomedct/441456002 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/N84 property_value: exactMatch NCIT:C3340 property_value: excluded_subClassOf MONDO:0005070 {source="EFO:0000662"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000663 name: pool def: "A mix of specimens from multiple individuals." [] xref: MO:779 xref: NCIt:C68779 xref: SNOMEDCT:69297003 is_a: BFO:0000040 ! material entity property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000665 name: obsolete_porphyria def: "A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues." [] synonym: "DIS PORPHYRIN METABOLISM" EXACT [] synonym: "Disorder of porphyrin and haem metabolism" EXACT [] synonym: "disorder of porphyrin and hem metabolism" EXACT [] synonym: "Disorder of porphyrin and heme metabolism" EXACT [] synonym: "Disorder of porphyrin metabolism" EXACT [] synonym: "disorder of porphyrin metabolism (disorder)" EXACT [] synonym: "Disorder of porphyrin metabolism, NOS" EXACT [] synonym: "Disorders of porphyrin metabolism" EXACT [] synonym: "Disorders of porphyrin metabolism (disorder)" EXACT [] synonym: "Hematoporphyria" EXACT [] synonym: "Porphyria (disorder)" EXACT [] synonym: "Porphyria NOS" EXACT [] synonym: "Porphyria NOS (disorder)" EXACT [] synonym: "Porphyrias" EXACT [] synonym: "Porphyrinopathy" EXACT [] synonym: "Porphyrinopathy (disorder)" EXACT [] xref: DOID:13268 xref: ICD9:277.1 xref: MeSH:D011164 xref: SNOMEDCT:190916001 xref: SNOMEDCT:29094004 xref: SNOMEDCT:371628009 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_738' instead.\nNew Label : Porphyria" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_738 [Term] id: EFO:0000666 name: portal hypertension def: "Abnormal increase of resistance to blood flow within the hepatic PORTAL SYSTEM, frequently seen in LIVER CIRRHOSIS and conditions with obstruction of the PORTAL VEIN." [] def: "Increased blood pressure in the portal venous system. It is most commonly caused by cirrhosis. Other causes include portal vein thrombosis, Budd-Chiari syndrome, and right heart failure. Complications include ascites, esophageal varices, encephalopathy, and splenomegaly." [NCIT:C3119] def: "Liver cirrhosis with intrahepatic portal obstruction, HYPERTENSION, and patent UMBILICAL VEINS." [] synonym: "Cruveilhier Baumgarten Syndrome" EXACT [] synonym: "Cruveilhier-Baumgarten Syndrome" EXACT [] synonym: "Hypertension, Portal" EXACT [] synonym: "Hypertensions, Portal" EXACT [] synonym: "PHT - Portal hypertension" EXACT [] synonym: "portal hypertension" EXACT [] {comment="preferred label from MONDO"} synonym: "Portal hypertension (disorder)" EXACT [] synonym: "Portal Hypertensions" EXACT [] synonym: "Syndrome, Cruveilhier-Baumgarten" EXACT [] xref: DOID:10762 {source="MONDO:equivalentTo", source="EFO:0000666"} xref: ICD10CM:K76.6 {source="MONDO:equivalentTo", source="DOID:10762"} xref: ICD9:572.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0000666", source="DOID:10762"} xref: MedDRA:10036200 xref: MESH:D006975 {source="MONDO:equivalentTo", source="EFO:0000666", source="DOID:10762"} xref: MeSH:D006975 xref: MONDO:0005080 xref: NCIT:C3119 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="EFO:0000666", source="MONDO:exact-label-match", source="DOID:10762"} xref: NCIt:C3119 xref: OMIM:617068 xref: SCTID:34742003 {source="MONDO:equivalentTo", source="EFO:0000666", source="DOID:10762"} xref: SNOMEDCT:34742003 xref: UMLS:C0020541 {source="MONDO:equivalentTo", source="DOID:10762"} is_a: MONDO:0002405 {source="DOID:10762"} ! hepatic vascular disorder relationship: EFO:0000784 UBERON:0002107 ! has_disease_location liver property_value: exactMatch DOID:10762 property_value: exactMatch http://identifiers.org/mesh/D006975 property_value: exactMatch http://identifiers.org/snomedct/34742003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020541 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K76.6 property_value: exactMatch NCIT:C3119 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000668 name: preeclampsia def: "A complication of PREGNANCY, characterized by a complex of symptoms including maternal HYPERTENSION and PROTEINURIA with or without pathological EDEMA. Symptoms may range between mild and severe. Pre-eclampsia usually occurs after the 20th week of gestation, but may develop before this time in the presence of trophoblastic disease." [] def: "A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria." [] def: "Preeclampsia is a hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia." [Orphanet:275555] subset: ordo_disease {source="Orphanet:275555"} synonym: "Edema Proteinuria Hypertension Gestosis" EXACT [] synonym: "Edema-Proteinuria-Hypertension Gestosis" EXACT [] synonym: "EPH - Edema, proteinuria and hypertension of pregnancy" EXACT [] synonym: "EPH - Oedema, proteinuria and hypertension of pregnancy" EXACT [] synonym: "EPH Complex" EXACT [] synonym: "EPH Gestosis" EXACT [] synonym: "EPH Toxemia" EXACT [] synonym: "EPH Toxemias" EXACT [] synonym: "Gestational hypertension" EXACT [] synonym: "gestational hypertension" EXACT [DOID:10591] synonym: "Gestational hypertension (disorder)" EXACT [] synonym: "Gestosis, Edema-Proteinuria-Hypertension" EXACT [] synonym: "Gestosis, EPH" EXACT [] synonym: "Gestosis, Hypertension-Edema-Proteinuria" EXACT [] synonym: "Gestosis, Proteinuria-Edema-Hypertension" EXACT [] synonym: "Hypertension Edema Proteinuria Gestosis" EXACT [] synonym: "hypertension induced by pregnancy" EXACT [DOID:10591] synonym: "hypertension of preg." EXACT [] synonym: "hypertension of pregnancy NOS" EXACT [] synonym: "hypertension of pregnancy NOS (disorder)" EXACT [] synonym: "Hypertension-Edema-Proteinuria Gestosis" EXACT [] synonym: "PE - Pre-eclampsia" EXACT [] synonym: "PET - Pre-eclamptic toxaemia" EXACT [] synonym: "PET - Pre-eclamptic toxemia" EXACT [] synonym: "Pre Eclampsia" EXACT [] synonym: "Pre-Eclampsia" EXACT [] synonym: "pre-eclampsia" EXACT [DOID:10591] synonym: "Pre-eclampsia (disorder)" EXACT [] synonym: "Pre-eclampsia NOS" EXACT [] synonym: "Pre-eclampsia NOS (disorder)" EXACT [] synonym: "Pre-eclampsia, unspecified" EXACT [] synonym: "Pre-eclamptic NOS" EXACT [] synonym: "Pre-eclamptic toxaemia" EXACT [] synonym: "pre-eclamptic toxaemia" EXACT OMO:0003005 [] synonym: "Pre-eclamptic toxemia" EXACT [] synonym: "pre-eclamptic toxemia" EXACT [DOID:10591] synonym: "preeclampsia" EXACT [DOID:10591] synonym: "preeclampsia" EXACT [] {comment="preferred label from MONDO"} synonym: "PREECLAMPSIA/ECLAMPSIA" EXACT [] synonym: "preeclampsia/eclampsia" EXACT [DOID:10591] synonym: "PREGN TOXEMIAS" EXACT [] synonym: "Pregnancy associated hypertension" EXACT [] synonym: "pregnancy associated hypertension" EXACT [DOID:10591, NCIT:C4371] synonym: "pregnancy toxaemia" EXACT OMO:0003005 [] synonym: "Pregnancy Toxemia" EXACT [] synonym: "pregnancy toxemia" EXACT [DOID:10591] synonym: "Pregnancy Toxemias" EXACT [] synonym: "Pregnancy-induced hypertension (disorder)" EXACT [] synonym: "Proteinuria Edema Hypertension Gestosis" EXACT [] synonym: "Proteinuria-Edema-Hypertension Gestosis" EXACT [] synonym: "Proteinuric hypertension of pregnancy" EXACT [] synonym: "proteinuric hypertension of pregnancy" EXACT [DOID:10591] synonym: "Toxaemia NOS" EXACT [] synonym: "Toxaemia of pregnancy" EXACT [] synonym: "toxaemia of pregnancy" RELATED OMO:0003005 [] synonym: "Toxaemia of pregnancy, NOS" EXACT [] synonym: "Toxemia" EXACT [] synonym: "Toxemia NOS" EXACT [] synonym: "Toxemia NOS (disorder)" EXACT [] synonym: "Toxemia of Pregnancy" EXACT [] synonym: "toxemia of pregnancy" RELATED [DOID:10591] synonym: "Toxemia of pregnancy (disorder)" EXACT [] synonym: "Toxemia of pregnancy, NOS" EXACT [] synonym: "Toxemia, EPH" EXACT [] synonym: "Toxemia, Pregnancy" EXACT [] synonym: "Toxemias, EPH" EXACT [] synonym: "Toxemias, Pregnancy" EXACT [] xref: DOID:10591 {source="MONDO:equivalentTo", source="EFO:0000668"} xref: ICD10:O13 xref: ICD10:O14 xref: ICD10:O16 xref: ICD9:642.40 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:642.41 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:642.42 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:642.43 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:642.44 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10036485 {source="Orphanet:275555", source="Orphanet:275555/e"} xref: MESH:D011225 {source="MONDO:equivalentTo", source="DOID:10591", source="EFO:0000668"} xref: MeSH:D011225 xref: MeSH:D014115 xref: MONDO:0005081 xref: NCIT:C85021 {source="MONDO:equivalentTo", source="DOID:10591", source="EFO:0000668"} xref: NCIt:C85021 xref: OMIM:189800 xref: OMIM:609404 xref: OMIM:614595 xref: OMIMPS:189800 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:275555 {source="MONDO:equivalentTo", source="DOID:10591"} xref: SCTID:398254007 {source="MONDO:equivalentTo", source="DOID:10591", source="EFO:0000668"} xref: SNOMEDCT:15394000 xref: SNOMEDCT:398254007 is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0045048 {source="NCIT:C85021"} ! toxemia of pregnancy relationship: has_characteristic MONDO:0021136 {source="MONDO:0015582"} ! rare property_value: closeMatch http://identifiers.org/meddra/10036485 property_value: exactMatch DOID:10591 property_value: exactMatch http://identifiers.org/mesh/D011225 property_value: exactMatch http://identifiers.org/snomedct/398254007 property_value: exactMatch https://omim.org/phenotypicSeries/PS189800 property_value: exactMatch NCIT:C85021 property_value: exactMatch Orphanet:275555 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000669 name: obsolete_pretreatment property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000671 name: obsolete_progeria syndrome def: "A very rare genetic disorder caused by mutations in the LMNA gene. It is characterized by premature aging. Signs and symptoms include failure to thrive, limited growth, alopecia, wrinkled skin, small face, development of atherosclerosis, and heart disease. There is no cure for this condition. Individuals do not usually survive beyond their early twenties. Death usually occurs as a result of complications from atherosclerosis." [] def: "An abnormal congenital condition, associated with defects in the LAMIN TYPE A gene, which is characterized by premature aging in children, where all the changes of cell senescence occur. It is manifested by premature greying; hair loss; hearing loss (DEAFNESS); cataracts (CATARACT); ARTHRITIS; OSTEOPOROSIS; DIABETES MELLITUS; atrophy of subcutaneous fat; skeletal hypoplasia; elevated urinary HYALURONIC ACID; and accelerated ATHEROSCLEROSIS. Many affected individuals develop malignant tumors, especially SARCOMA." [] synonym: "HGPS" EXACT [] synonym: "Hutchinson Gilford syndrome" EXACT [] synonym: "Hutchinson-Gilford Disease" EXACT [] synonym: "Hutchinson-Gilford Progeria syndrome" EXACT [] synonym: "Hutchinson-Gilford Syndrome" EXACT [] synonym: "Hutchinson-Gilford syndrome (disorder)" EXACT [] synonym: "Premature senility syndrome" EXACT [] synonym: "Progeria" EXACT [] synonym: "Progeria (disorder)" EXACT [] synonym: "Progeria syndrome (disorder) [Ambiguous]" EXACT [] synonym: "Syndrome, Hutchinson-Gilford" EXACT [] xref: DOID:3911 xref: MeSH:D011371 xref: NCIt:C34951 xref: OMIM:176670 xref: SNOMEDCT:238870004 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_740' instead.\nNew Label : Hutchinson-Gilford progeria syndrome" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_740 [Term] id: EFO:0000672 name: prognostic subgroup def: "A population in which a grouping of subjects in some study grouped on the basis of the probable outcome of some disease e.g. by gene expression, by physiological indicators etc" [] is_a: OBI:0000181 ! population property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000673 name: prostate adenocarcinoma def: "A carcinoma that arises from glandular epithelial cells of the prostate gland" [https://orcid.org/0000-0002-6601-2165] def: "A carcinoma that arises from glandular epithelial cells of the prostate gland" [MONDO:DesignPattern] synonym: "adenocarcinoma of prostate" EXACT [NCIT:C2919] synonym: "adenocarcinoma of the prostate" EXACT [NCIT:C2919] synonym: "prad" RELATED [ONCOTREE:PRAD] synonym: "prostate adenocarcinoma" EXACT [NCIT:C2919] synonym: "prostate adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "prostate adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "prostate gland adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:2526 {source="EFO:0000673", source="MONDO:equivalentTo"} xref: EFO:0000673 {source="MONDO:equivalentTo"} xref: MONDO:0005082 xref: NCIT:C2919 {source="EFO:0000673", source="MONDO:equivalentTo", source="DOID:2526", source="exact-label-match"} xref: NCIT:C2919 {source="EFO:0000673", source="MONDO:equivalentTo", source="DOID:2526", source="MONDO:exact-label-match"} xref: OMIM:176807 xref: ONCOTREE:PRAD {source="MONDO:equivalentTo"} xref: SCTID:399490008 {source="EFO:0000673", source="MONDO:equivalentTo", source="DOID:2526"} xref: UMLS:C0007112 {source="MONDO:equivalentTo", source="NCIT:C2919", source="DOID:2526"} is_a: EFO:0000228 {source="DOID:2526", source="EFO:0000673", source="MONDO:Redundant", source="NCIT:C2919"} ! adenocarcinoma is_a: EFO:0001663 {source="DOID:2526", source="EFO:0000673", source="MONDO:Redundant", source="NCIT:C2919/inferred"} ! prostate carcinoma relationship: EFO:0000784 UBERON:0002367 ! has_disease_location prostate gland property_value: exactMatch DOID:2526 property_value: exactMatch DOID:2526 property_value: exactMatch http://identifiers.org/snomedct/399490008 property_value: exactMatch http://identifiers.org/snomedct/399490008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007112 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007112 property_value: exactMatch NCIT:C2919 property_value: exactMatch NCIT:C2919 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/adenocarcinoma.yaml [Term] id: EFO:0000674 name: obsolete_protocol comment: Merged plan specification and protocol and made synonymous hence this class is redundant. property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000675 name: obsolete_protocol factor def: "A protocol factor is an experimental factor which describes factors that describe the protocol design of an experiment." [] comment: synonymous with protocol property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000676 name: psoriasis def: "A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis." [] def: "An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp." [NCIT:P378] synonym: "Other and unspecified pityriasis" EXACT [] synonym: "OTHER PSORIASIS" EXACT [] synonym: "Other psoriasis and similar disorders" EXACT [] synonym: "Other psoriasis and similar disorders (disorder)" EXACT [] synonym: "Other psoriasis and similar disorders excluding psoriatic arthropathy" EXACT [] synonym: "Palmoplantaris Pustulosis" EXACT [] synonym: "PITYRIASIS NEC & NOS" EXACT [] synonym: "PSORIAS RELATED DIS NEC" EXACT [] synonym: "Psoriases" EXACT [] synonym: "psoriasis" EXACT [] {comment="preferred label from MONDO"} synonym: "Psoriasis and similar disorders" EXACT [] synonym: "Psoriasis and similar disorders (disorder)" EXACT [] synonym: "Psoriasis and similar disorders (navigational concept)" EXACT [] synonym: "Psoriasis and similar disorders NOS" EXACT [] synonym: "Psoriasis and similar disorders NOS (disorder)" EXACT [] synonym: "Pustular Psoriasis of Palms and Soles" EXACT [] synonym: "PUSTULAR PSORIASIS OF PALMS SOLES" EXACT [] synonym: "Pustulosis of Palms and Soles" EXACT [] synonym: "PUSTULOSIS OF PALMS SOLES" EXACT [] synonym: "Pustulosis Palmaris et Plantaris" EXACT [] xref: DOID:8893 {source="MONDO:equivalentTo", source="EFO:0000676"} xref: ICD10:L40 xref: ICD10CM:L40 {source="MONDO:equivalentTo", source="DOID:8893"} xref: ICD9:696 {source="EFO:0000676"} xref: ICD9:696.1 {source="MONDO:relatedTo", source="MONDO:i2s", source="EFO:0000676"} xref: ICD9:696.5 {source="EFO:0000676"} xref: ICD9:696.8 {source="MONDO:relatedTo", source="MONDO:i2s", source="EFO:0000676"} xref: MedDRA:10037153 xref: MESH:D011565 {source="MONDO:equivalentTo", source="EFO:0000676", source="DOID:8893"} xref: MeSH:D011565 xref: MONDO:0005083 xref: NCIT:C3346 {source="MONDO:equivalentTo", source="EFO:0000676", source="DOID:8893"} xref: NCIt:C3346 xref: OMIM:177900 xref: OMIM:602723 xref: OMIM:605606 xref: OMIM:612599 xref: OMIM:614070 xref: OMIMPS:177900 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: SCTID:9014002 {source="MONDO:equivalentTo", source="EFO:0000676", source="DOID:8893"} xref: SNOMEDCT:9014002 xref: UMLS:C0033860 {source="MONDO:equivalentTo", source="NCIT:C3346", source="DOID:8893"} is_a: EFO:0000540 {source="EFO:0000676"} ! immune system disease is_a: EFO:1000636 ! inflammatory skin disease is_a: MONDO:0002406 {source="EFO:0000676"} ! dermatitis is_a: MONDO:0100118 ! hereditary skin disorder disjoint_from: EFO:1000756 {source="https://www.healthline.com/health/psoriasis/psoriasis-vs-pityriasis-rosea"} ! pityriasis rosea relationship: EFO:0000784 UBERON:0000014 ! has_disease_location zone of skin property_value: exactMatch DOID:8893 property_value: exactMatch http://identifiers.org/mesh/D011565 property_value: exactMatch http://identifiers.org/snomedct/9014002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033860 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L40 property_value: exactMatch https://omim.org/phenotypicSeries/PS177900 property_value: exactMatch NCIT:C3346 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000677 name: mental or behavioural disorder def: "A disease that has its basis in the disruption of mental process." [MONDO:patterns/basis_in_disruption_of_process] def: "Disorders in which there is a loss of ego boundaries or a gross impairment in reality testing with delusions or prominent hallucinations. (From DSM-IV, 1994)" [] def: "Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." [] synonym: "Behavior Disorder" EXACT [] synonym: "Brief Reactive Psychoses" EXACT [] synonym: "Brief Reactive Psychosis" EXACT [] synonym: "disease of mental health" EXACT [] synonym: "disorder of mental process" EXACT [MONDO:patterns/basis_in_disruption_of_process] synonym: "Disorder, Psychotic" EXACT [] synonym: "Disorders, Psychotic" EXACT [] synonym: "Mental Disorder" EXACT [] synonym: "mental disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "mental disorders" EXACT [] synonym: "mental or behavioral disorder" EXACT [DOID:2468] synonym: "mental or behavioural disorder" EXACT OMO:0003005 [] synonym: "mental process disease" EXACT [MONDO:design_pattern] synonym: "Psychiatric Disorder" EXACT [] synonym: "Psychoses" EXACT [] synonym: "Psychoses, Brief Reactive" EXACT [] synonym: "Psychosis, Brief Reactive" EXACT [] synonym: "PSYCHOTIC DIS" EXACT [] synonym: "Psychotic Disorder" EXACT [] synonym: "Psychotic Disorders" EXACT [] synonym: "Reactive Psychoses, Brief" EXACT [] synonym: "Reactive Psychosis, Brief" EXACT [] xref: DOID:150 {source="MONDO:relatedTo", source="EFO:0000677"} xref: DOID:2468 xref: ICD10:F99 xref: ICD9:290-299.99 {source="EFO:0000677"} xref: ICD9:298.8 {source="DOID:2468"} xref: ICD9:V11.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10004204 xref: MedDRA:10013190 xref: MedDRA:10061284 xref: MESH:D001523 {source="MONDO:relatedTo", source="EFO:0000677"} xref: MeSH:D001523 xref: MeSH:D011618 xref: MONDO:0005084 xref: NCIT:C2893 {source="MONDO:relatedTo", source="EFO:0000677"} xref: NCIt:C2893 xref: NIFSTD:birnlex_12669 {source="EFO:0000677"} xref: SCTID:74732009 {source="MONDO:equivalentTo", source="EFO:0000677"} xref: SNOMEDCT:5464005 xref: SNOMEDCT:69322001 xref: SNOMEDCT:74732009 xref: UMLS:CN240636 {source="MONDO:equivalentTo"} is_a: EFO:0005774 ! brain disease is_a: MONDO:0002025 ! psychiatric disorder disjoint_from: EFO:0001460 ! uninfected disjoint_from: EFO:0004540 {source="MONDO:cjm"} ! chronic fatigue syndrome relationship: EFO:0000784 UBERON:0000955 ! has_disease_location brain property_value: exactMatch http://identifiers.org/snomedct/74732009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN240636 property_value: external_definition "A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture." xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000678 name: pterygium def: "A wedge-shaped fibrovascular lesion arising from the bulbar conjunctiva and extending to the cornea. It is caused by chronic exposure to solar ultraviolet radiation, heat, and dust. It may cause severe vision loss. Studies have linked pterygium to neoplastic proliferation and suggest that it may be a stem cell disorder." [NCIT:C133744] synonym: "pterygium" EXACT [] {comment="preferred label from MONDO"} synonym: "pterygium" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "pterygium of conjunctiva and cornea" EXACT [NCIT:C133744] synonym: "surfer's eye" EXACT [DOID:0002116] xref: COHD:375552 {source="MONDO:equivalentTo"} xref: DOID:0002116 {source="MONDO:equivalentTo", source="EFO:0000678"} xref: EFO:0000678 {source="MONDO:equivalentTo"} xref: ICD10:H11.0 {source="MONDO:equivalentTo", source="DOID:0002116"} xref: ICD10:H11.00 {source="DOID:0002116"} xref: ICD10:H11.009 {source="DOID:0002116"} xref: ICD10CM:H11.0 {source="MONDO:equivalentTo", source="DOID:0002116"} xref: ICD9:372.4 {source="EFO:0000678", source="DOID:0002116"} xref: ICD9:372.40 {source="MONDO:equivalentTo", source="i2s", source="DOID:0002116"} xref: ICD9:372.40 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:0002116"} xref: MESH:D011625 {source="MONDO:equivalentTo", source="EFO:0000678", source="DOID:0002116"} xref: MONDO:0005085 xref: NCIT:C133744 {source="MONDO:equivalentTo"} xref: SCTID:77489003 {source="MONDO:equivalentTo", source="EFO:0000678", source="DOID:0002116"} xref: UMLS:C0033999 {source="MONDO:equivalentTo", source="DOID:0002116", source="NCIT:C133744"} is_a: EFO:1000110 {source="MONDO:Entailed", source="NCIT:C133744"} ! Benign Conjunctival Neoplasm is_a: MONDO:0021452 ! benign neoplasm of cornea relationship: EFO:0000784 UBERON:0001811 ! has_disease_location conjunctiva property_value: closeMatch http://identifiers.org/snomedct/155165000 property_value: closeMatch http://identifiers.org/snomedct/193879003 property_value: closeMatch http://identifiers.org/snomedct/193884009 property_value: exactMatch DOID:0002116 property_value: exactMatch DOID:0002116 property_value: exactMatch http://identifiers.org/mesh/D011625 property_value: exactMatch http://identifiers.org/mesh/D011625 property_value: exactMatch http://identifiers.org/snomedct/77489003 property_value: exactMatch http://identifiers.org/snomedct/77489003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033999 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033999 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H11.0 property_value: exactMatch NCIT:C133744 property_value: exactMatch NCIT:C133744 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql [Term] id: EFO:0000679 name: obsolete_rat strain def: "Strain or line specific to rat." [] xref: NIFSTD:birnlex_203 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.0.1" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "consolodation of strain with taxon. rat strain subclasses moved to subclasses of rattus" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/NCBITaxon_10114 [Term] id: EFO:0000681 name: renal cell carcinoma def: "A carcinoma that arises from glandular epithelial cells of the kidney" [MONDO:DesignPattern] def: "A carcinoma that arises from glandular epithelial cells of the kidney" [https://orcid.org/0000-0002-6601-2165] subset: disease_grouping subset: gard_rare subset: ordo_group_of_disorders {source="Orphanet:217071"} synonym: "hypernephroma" EXACT [DOID:4450] synonym: "kidney adenocarcinoma" EXACT [MONDO:patterns/location] synonym: "kidney adenocarcinoma" RELATED [MONDO:patterns/location] synonym: "RCC" EXACT ABBREVIATION [CSP2005:4003-0049, DOID:4450, Orphanet:217071] synonym: "RCC" EXACT ABBREVIATION [DOID:4450, Orphanet:217071] synonym: "renal cell adenocarcinoma" RELATED [GARD:0013215] synonym: "renal cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "renal cell carcinoma" EXACT [MONDO:ambiguous] synonym: "renal cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "renal cell carcinoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:4450 {source="EFO:0000681", source="MONDO:equivalentTo"} xref: EFO:0000681 {source="MONDO:equivalentTo", source="DOID:4450"} xref: GARD:0013215 {source="MONDO:equivalentTo"} xref: HP:0005584 {source="MONDO:otherHierarchy"} xref: ICD9:189.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:189.0 {source="MONDO:relatedTo", source="i2s"} xref: MedDRA:10020681 xref: MedDRA:10067946 {source="Orphanet:217071", source="Orphanet:217071/e"} xref: MedDRA:10067946 {source="ORDO:217071/e", source="Orphanet:217071"} xref: MESH:D002292 {source="ORDO:217071/e", source="EFO:0000681", source="Orphanet:217071", source="MONDO:equivalentTo", source="DOID:4450"} xref: MESH:D002292 {source="EFO:0000681", source="Orphanet:217071", source="MONDO:equivalentTo", source="Orphanet:217071/e", source="DOID:4450"} xref: MONDO:0005086 xref: NCIT:C9385 {source="EFO:0000681", source="GARD:0013215", source="MONDO:directSiblingOf", source="DOID:4450"} xref: OMIM:144700 xref: OMIM:300854 xref: ONCOTREE:RCC {source="MONDO:equivalentTo"} xref: Orphanet:217071 {source="MONDO:equivalentTo"} xref: SCTID:702391001 {source="EFO:0000681", source="MONDO:equivalentTo", source="DOID:4450"} is_a: EFO:0000228 {source="DOID:4450", source="MESH:D002292", source="MONDO:Redundant"} ! adenocarcinoma is_a: EFO:0002890 {source="DOID:4450", source="EFO:0000681", source="MONDO:Redundant"} ! renal carcinoma relationship: has_characteristic MONDO:0021136 {source="MONDO:0019749"} ! rare property_value: closeMatch http://identifiers.org/meddra/10067946 property_value: closeMatch http://identifiers.org/snomedct/41607009 property_value: exactMatch DOID:4450 property_value: exactMatch DOID:4450 property_value: exactMatch http://identifiers.org/meddra/10067946 property_value: exactMatch http://identifiers.org/mesh/D002292 property_value: exactMatch http://identifiers.org/mesh/D002292 property_value: exactMatch http://identifiers.org/snomedct/702391001 property_value: exactMatch http://identifiers.org/snomedct/702391001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007134 property_value: exactMatch Orphanet:217071 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/adenocarcinoma.yaml property_value: IAO:0000589 "renal cell carcinoma (disease)" xsd:string [Term] id: EFO:0000682 name: obsolete_renal clear cell carcinoma def: "A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." [] def: "A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common." [] def: "A renal cell carcinoma that is the most common type of renal cell carcinoma. The cancerous cells appear very pale or clear when examined under microscope. This cancer can be effectively treated with surgery if the tumor is confined to the kidney." [] def: "Clear cell carcinoma of kidney is a renal cell carcinoma described as the most common type of renal cell carcinoma. The cancerous cells appear very pale or clear when examined under microscope. This cancer can be effectively treated with surgery if the tumor is confined to the kidney." [] xref: DOID:4467 xref: MeSH:D002292 xref: NCIt:C4033 xref: SNOMEDCT:254915003 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.8" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate of EFO_0000349 (clear cell renal carcinoma)" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000349 [Term] id: EFO:0000683 name: replicate def: "A role played by a a biological sample in the context of an experiment where the intent is that biological or technical variation is measured." [] xref: NCIt:C28038 is_a: BFO:0000023 ! role property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000684 name: respiratory system disease def: "A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." [] def: "A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma." [NCIT:C26871] subset: rare_grouping synonym: "[X]Chronic and other pulmonary manifestations due to radiation" EXACT [] synonym: "[X]Chronic and other pulmonary manifestations due to radiation (disorder)" EXACT [] synonym: "[X]Other diseases of the respiratory system" EXACT [] synonym: "[X]Other diseases of the respiratory system (disorder)" EXACT [] synonym: "[X]Respiratory conditions due to other specified external agents" EXACT [] synonym: "[X]Respiratory conditions due to other specified external agents (disorder)" EXACT [] synonym: "[X]Respiratory conditions due to unspecified external agent" EXACT [] synonym: "[X]Respiratory conditions due to unspecified external agent (disorder)" EXACT [] synonym: "ALVEOL PNEUMONOPATHY NEC" EXACT [] synonym: "ALVEOL PNEUMONOPATHY NOS" EXACT [] synonym: "CHR PUL MANIF D/T RADIAT" EXACT [] synonym: "Chronic and other pulmonary manifestations due to radiation" EXACT [] synonym: "Disease of respiratory system" EXACT [] synonym: "disease of respiratory system" EXACT [MONDO:patterns/location_top] synonym: "Disease of respiratory system (disorder)" EXACT [] synonym: "Disease of respiratory system, NOS" EXACT [] synonym: "disease or disorder of respiratory system" EXACT [] synonym: "DISEASES OF THE RESPIRATORY SYSTEM" EXACT [] synonym: "Disorder of respiratory system" EXACT [] synonym: "disorder of respiratory system" EXACT [MONDO:patterns/location_top, NCIT:C26871] synonym: "Disorder of respiratory system (disorder)" EXACT [] synonym: "INORG DUST PNEUMOCON NEC" EXACT [] synonym: "LUNG INVOLV IN OTH DIS" EXACT [] synonym: "Lung involvement in conditions classified elsewhere" EXACT [] synonym: "Lung involvement in other diseases classified elsewhere" EXACT [] synonym: "MEDIASTINUM DISEASE NEC" EXACT [] synonym: "Other alveolar and parietoalveolar pneumonopathy" EXACT [] synonym: "Other diseases of mediastinum, not elsewhere classified" EXACT [] synonym: "Other diseases of respiratory system" EXACT [] synonym: "Other diseases of respiratory system NOS" EXACT [] synonym: "Other diseases of respiratory system NOS (disorder)" EXACT [] synonym: "Other diseases of respiratory system, not elsewhere classified" EXACT [] synonym: "Other diseases of trachea and bronchus, not elsewhere classified" EXACT [] synonym: "Other respiratory system diseases" EXACT [] synonym: "Other respiratory system diseases (disorder)" EXACT [] synonym: "Other respiratory system diseases NOS" EXACT [] synonym: "Other respiratory system diseases NOS (disorder)" EXACT [] synonym: "Other specified alveolar and parietoalveolar pneumonopathies" EXACT [] synonym: "PNEUMOCONIOSES AND OTHER LUNG DISEASES DUE TO EXTERNAL AGENTS" EXACT [] synonym: "Pneumoconiosis due to other inorganic dust" EXACT [] synonym: "RESP COND: EXT AGENT NEC" EXACT [] synonym: "RESP COND: EXT AGENT NOS" EXACT [] synonym: "RESP SYSTEM DISEASE NEC" EXACT [] synonym: "RESP SYSTEM DISEASE NOS" EXACT [] synonym: "Respiratory conditions due to other and unspecified external agents" EXACT [] synonym: "Respiratory conditions due to other specified external agents" EXACT [] synonym: "Respiratory conditions due to unspecified external agent" EXACT [] synonym: "Respiratory disease" EXACT [] synonym: "respiratory disease" EXACT [DOID:1579] synonym: "Respiratory disorder" EXACT [] synonym: "respiratory disorder" EXACT [NCIT:C26871] synonym: "Respiratory disorder, NOS" EXACT [] synonym: "respiratory system disease" EXACT [MONDO:patterns/location] synonym: "respiratory system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "Respiratory system diseases NOS" EXACT [] synonym: "Respiratory system diseases NOS (disorder)" EXACT [] synonym: "Respiratory System Disorder" EXACT [] synonym: "respiratory system disorder" EXACT [NCIT:C26871] synonym: "respiratory system disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "Unspecified alveolar and parietoalveolar pneumonopathy" EXACT [] synonym: "Unspecified disease of respiratory system" EXACT [] xref: DOID:1579 {source="EFO:0000684", source="MONDO:equivalentTo"} xref: ICD10:J06 xref: ICD10:J34 xref: ICD10:J39 xref: ICD10:J63 xref: ICD10:J98 xref: ICD10:J99 xref: ICD10CM:J00-J99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:460-519.99 {source="EFO:0000684"} xref: ICD9:500-508.99 {source="EFO:0000684"} xref: ICD9:503 {source="EFO:0000684"} xref: ICD9:508 {source="EFO:0000684"} xref: ICD9:508.1 {source="EFO:0000684"} xref: ICD9:508.8 {source="EFO:0000684"} xref: ICD9:508.9 {source="EFO:0000684"} xref: ICD9:510-519.99 {source="EFO:0000684", source="DOID:1579"} xref: ICD9:516 {source="EFO:0000684"} xref: ICD9:516.8 {source="EFO:0000684"} xref: ICD9:516.9 {source="EFO:0000684"} xref: ICD9:517 {source="EFO:0000684"} xref: ICD9:517.8 {source="EFO:0000684"} xref: ICD9:519 {source="EFO:0000684", source="DOID:1579"} xref: ICD9:519.1 {source="EFO:0000684"} xref: ICD9:519.3 {source="EFO:0000684"} xref: ICD9:519.8 {source="MONDO:relatedTo", source="EFO:0000684", source="MONDO:i2s"} xref: ICD9:519.9 {source="EFO:0000684", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:V12.60 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:V47.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D012140 {source="MONDO:equivalentTo"} xref: MONDO:0005087 xref: NCIT:C26871 {source="EFO:0000684", source="MONDO:equivalentTo"} xref: NCIt:C26871 xref: SCTID:50043002 {source="EFO:0000684", source="MONDO:equivalentTo"} xref: SNOMEDCT:50043002 is_a: EFO:0000408 ! disease disjoint_from: EFO:0001460 ! uninfected relationship: EFO:0000784 UBERON:0001004 ! has_disease_location respiratory system property_value: exactMatch DOID:1579 property_value: exactMatch http://identifiers.org/mesh/D012140 property_value: exactMatch http://identifiers.org/snomedct/50043002 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/J00-J99 property_value: exactMatch NCIT:C26871 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000685 name: rheumatoid arthritis def: "A chronic systemic disease, primarily of the joints, marked by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. Etiology is unknown, but autoimmune mechanisms have been implicated." [] def: "A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor." [NCIT:C2884] def: "An arthritis that results_from an autoimmune disease which attacks healthy cells and tissue located_in joint." [] def: "Rheumatoid arthritis is a rheumatologic disorder described as an autoimmune disease that is usually a chronic disease and is characterized especially by pain, stiffness, inflammation, swelling, and sometimes destruction of joints." [] synonym: "Arthritis or polyarthritis, rheumatic" EXACT [] synonym: "arthritis or polyarthritis, rheumatic" EXACT [DOID:7148] synonym: "Arthritis, Rheumatoid" EXACT [] synonym: "arthritis, rheumatoid" EXACT [NCIT:C2884] synonym: "atrophic Arthritis" EXACT [] synonym: "atrophic arthritis" BROAD [DOID:7148, NCIT:C27206] synonym: "autoimmune arthritis" EXACT [] synonym: "Chronic rheumatic arthritis" EXACT [] synonym: "Proliferative arthritis" EXACT [] synonym: "RA" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C2884, OMIM:180300] synonym: "RA - Rheumatoid arthritis" EXACT [] synonym: "RhA - Rheumatoid arthritis" EXACT [] synonym: "Rheumatic gout" EXACT [] synonym: "rheumatoid arthritis" EXACT [MONDO:Lexical, NCIT:C2884, OMIM:180300] synonym: "rheumatoid arthritis" EXACT [] {comment="preferred label from MONDO"} synonym: "Rheumatoid arthritis (disorder)" EXACT [] synonym: "Rheumatoid arthritis NOS" EXACT [] synonym: "Rheumatoid arthritis NOS (disorder)" EXACT [] synonym: "rheumatoid arthritis, progression of" EXACT [OMIM:180300, OMIM:genemap2] synonym: "rheumatoid arthritis, susceptibility to" RELATED [OMIM:180300] synonym: "Rheumatoid disease" EXACT [] xref: DOID:7148 {source="MONDO:equivalentTo", source="EFO:0000685"} xref: HP:0001370 {source="MONDO:otherHierarchy", source="https://orcid.org/0000-0001-9859-8589"} xref: ICD10:M05 xref: ICD10:M06 xref: ICD9:714.0 {source="DOID:7148", source="MONDO:equivalentTo", source="EFO:0000685", source="MONDO:i2s"} xref: MedDRA:10037740 xref: MedDRA:10039073 xref: MESH:D001172 {source="DOID:7148", source="MONDO:equivalentTo", source="EFO:0000685"} xref: MeSH:D001172 xref: MONDO:0008383 xref: NCIT:C2884 {source="DOID:7148", source="MONDO:equivalentTo", source="EFO:0000685"} xref: NCIt:C2884 xref: OMIM:180300 {source="DOID:7148", source="MONDO:equivalentTo", source="EFO:0000685"} xref: OMIM:604302 xref: Orphanet:284130 {source="OMIM:180300", source="MONDO:equivalentObsolete"} xref: SCTID:69896004 {source="DOID:7148", source="MONDO:equivalentTo", source="EFO:0000685"} xref: SNOMEDCT:69896004 xref: UMLS:C0003873 {source="DOID:7148", source="OMIM:180300", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C2884"} is_a: EFO:0005140 ! autoimmune disease is_a: EFO:0005755 {source="EFO:0000685/inferred", source="MESH:D001172", source="MONDO:Redundant", source="NCIT:C2884"} ! rheumatic disease is_a: EFO:0005856 {source="DOID:7148", source="EFO:0000685", source="MESH:D001172", source="MONDO:Redundant", source="NCIT:C2884"} ! arthritis is_a: MONDO:0000589 ! autoimmune disorder of musculoskeletal system relationship: EFO:0000784 UBERON:0000982 ! has_disease_location skeletal joint property_value: exactMatch DOID:7148 property_value: exactMatch http://identifiers.org/mesh/D001172 property_value: exactMatch http://identifiers.org/snomedct/69896004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003873 property_value: exactMatch https://omim.org/entry/180300 property_value: exactMatch NCIT:C2884 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6094 xsd:anyURI [Term] id: EFO:0000686 name: risk status def: "The probability that an event will occur generally with unfavorable outcome." [] is_a: EFO:0001444 ! measurement property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000687 name: obsolete_sample factor comment: synonym with material entity property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000688 name: sampling site def: "A site from which a sample, i.e. a statistically representative of the whole, is extracted from the whole. e.g. a liver sample" [] is_a: BFO:0000029 ! site property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000689 name: sampling time synonym: "sampling_time_point" EXACT [] xref: MO:866 is_a: EFO:0000719 ! temporal measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000690 name: obsolete_sarcoidosis def: "An idiopathic inflammatory disorder characterized by the formation of non-necrotizing epithelioid granulomas which contain giant cells. It usually affects the lungs, lymph nodes, liver, and skin." [] def: "An idiopathic systemic inflammatory granulomatous disorder comprised of epithelioid and multinucleated giant cells with little necrosis. It usually invades the lungs with fibrosis and may also involve lymph nodes, skin, liver, spleen, eyes, phalangeal bones, and parotid glands." [] synonym: "Benign lymphogranulomatosis of Schaumann" EXACT [] synonym: "BESNIER BOECK DIS" EXACT [] synonym: "Besnier Boeck Disease" EXACT [] synonym: "Besnier Boeck Schaumann Syndrome" EXACT [] synonym: "Besnier-Boeck Disease" EXACT [] synonym: "Besnier-Boeck-Schaumann Syndrome" EXACT [] synonym: "Boeck Disease" EXACT [] synonym: "Boeck Sarcoid" EXACT [] synonym: "Boeck Sarcoid, any site" EXACT [] synonym: "Boeck's Disease" EXACT [] synonym: "Boeck's Sarcoid" EXACT [] synonym: "Boeck's sarcoidosis" EXACT [] synonym: "Boecks Disease" EXACT [] synonym: "Boecks Sarcoid" EXACT [] synonym: "Boecks sarcoidosis" EXACT [] synonym: "Darier-Roussy sarcoid" EXACT [] synonym: "Disease, Schaumann" EXACT [] synonym: "Lupus pernio of Besnier" EXACT [] synonym: "lymphogranulomatosis" EXACT [] synonym: "Miliary lupoid of Boeck" EXACT [] synonym: "sarcoid" EXACT [] synonym: "Sarcoid, Boeck's" EXACT [] synonym: "Sarcoidoses" EXACT [] synonym: "Sarcoidosis (disorder)" EXACT [] synonym: "Sarcoidosis, NOS" EXACT [] synonym: "SCHAUMANN DIS" EXACT [] synonym: "Schaumann Disease" EXACT [] synonym: "Schaumann Syndrome" EXACT [] synonym: "Schaumann's Syndrome" EXACT [] synonym: "Schaumann's Syndromes" EXACT [] synonym: "Syndrome, Besnier-Boeck-Schaumann" EXACT [] synonym: "Syndrome, Schaumann" EXACT [] synonym: "Syndrome, Schaumann's" EXACT [] synonym: "Uveoparotid fever" EXACT [] xref: DOID:11335 xref: ICD9:135 xref: MeSH:D012507 xref: NCIt:C34995 xref: OMIM:181000 xref: SNOMEDCT:31541009 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_797' instead.\nNew Label : Sarcoidosis" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_797 [Term] id: EFO:0000691 name: sarcoma def: "A usually aggressive malignant neoplasm of the soft tissue or bone. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the neoplasm. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma." [NCIT:C9118] synonym: "mesenchymal tumor, malignant" EXACT [NCIT:C9118] synonym: "sarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "sarcoma" EXACT [NCIT:C9118] synonym: "sarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "sarcoma of soft tissue and bone" EXACT [NCIT:C9118] synonym: "sarcoma of the soft tissue and bone" EXACT [NCIT:C9118] synonym: "sarcoma, malignant" EXACT [NCIT:C9118] synonym: "tumor of soft tissue and skeleton" EXACT [DOID:1115, NCIT:C3810] synonym: "tumor of soft tissue and skeleton" RELATED [DOID:1115, NCIT:C3810] synonym: "tumour of soft tissue and skeleton" RELATED OMO:0003005 [] xref: DOID:1115 {source="EFO:0000691", source="MONDO:equivalentTo"} xref: EFO:0000691 {source="MONDO:equivalentTo"} xref: GARD:0012018 {source="MONDO:equivalentTo"} xref: ICD10:C49 {source="DOID:1115"} xref: ICD9:171 {source="EFO:0000691", source="DOID:1115"} xref: ICD9:171.0 {source="EFO:0000691"} xref: ICD9:171.2 {source="EFO:0000691"} xref: ICD9:171.3 {source="EFO:0000691"} xref: ICD9:171.4 {source="EFO:0000691"} xref: ICD9:171.5 {source="EFO:0000691"} xref: ICD9:171.6 {source="EFO:0000691"} xref: ICD9:171.7 {source="EFO:0000691"} xref: ICD9:171.8 {source="EFO:0000691"} xref: ICD9:171.9 {source="EFO:0000691", source="MONDO:relatedTo", source="DOID:1115", source="MONDO:i2s"} xref: ICD9:171.9 {source="EFO:0000691", source="MONDO:relatedTo", source="DOID:1115", source="i2s"} xref: ICDO:8800/3 {source="NCIT:C9118"} xref: MESH:D012509 {source="EFO:0000691", source="MONDO:equivalentTo"} xref: MONDO:0005089 xref: NCIT:C9118 {source="EFO:0000691", source="MONDO:equivalentTo"} xref: SCTID:424413001 {source="EFO:0000691", source="MONDO:equivalentTo"} is_a: MONDO:0004992 {source="DOID:1115", source="DOID:1115/inferred", source="EFO:0000691"} ! cancer property_value: closeMatch http://identifiers.org/snomedct/187985009 property_value: closeMatch http://identifiers.org/snomedct/2424003 property_value: closeMatch http://identifiers.org/snomedct/93765001 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153519 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1261473 property_value: exactMatch DOID:1115 property_value: exactMatch DOID:1115 property_value: exactMatch http://identifiers.org/mesh/D012509 property_value: exactMatch http://identifiers.org/mesh/D012509 property_value: exactMatch http://identifiers.org/snomedct/424413001 property_value: exactMatch http://identifiers.org/snomedct/424413001 property_value: exactMatch NCIT:C9118 property_value: exactMatch NCIT:C9118 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0000692 name: obsolete_schizophrenia def: "A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality." [] def: "A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior." [] synonym: "[X]Schizophrenia, unspecified" EXACT [] synonym: "[X]Schizophrenia, unspecified (disorder)" EXACT [] synonym: "Dementia Praecox" EXACT [] synonym: "Disorder, Schizophrenic" EXACT [] synonym: "Disorders, Schizophrenic" EXACT [] synonym: "Other specified types of schizophrenia" EXACT [] synonym: "Other specified types of schizophrenia, chronic state" EXACT [] synonym: "Other specified types of schizophrenia, chronic state with acute exacerbation" EXACT [] synonym: "Other specified types of schizophrenia, in remission" EXACT [] synonym: "Other specified types of schizophrenia, subchronic state" EXACT [] synonym: "Other specified types of schizophrenia, subchronic state with acute exacerbation" EXACT [] synonym: "Other specified types of schizophrenia, unspecified state" EXACT [] synonym: "SCHIZO NEC-CHR/EXACERB" EXACT [] synonym: "SCHIZO NEC-SUBCHR/EXACER" EXACT [] synonym: "SCHIZO NOS-CHR/EXACERB" EXACT [] synonym: "SCHIZO NOS-SUBCHR/EXACER" EXACT [] synonym: "Schizophrenia (disorder)" EXACT [] synonym: "SCHIZOPHRENIA NEC-CHR" EXACT [] synonym: "SCHIZOPHRENIA NEC-REMISS" EXACT [] synonym: "SCHIZOPHRENIA NEC-SUBCHR" EXACT [] synonym: "SCHIZOPHRENIA NEC-UNSPEC" EXACT [] synonym: "Schizophrenia NOS" EXACT [] synonym: "Schizophrenia NOS (disorder)" EXACT [] synonym: "SCHIZOPHRENIA NOS-UNSPEC" EXACT [] synonym: "Schizophrenia, NOS" EXACT [] synonym: "schizophrenia-1" EXACT [] synonym: "Schizophrenias" EXACT [] synonym: "SCHIZOPHRENIC DIS" EXACT [] synonym: "Schizophrenic Disorder" EXACT [] synonym: "Schizophrenic Disorders" EXACT [] synonym: "Schizophrenic disorders (disorder)" EXACT [] synonym: "SCZ" EXACT [] synonym: "Unspecified schizophrenia" EXACT [] synonym: "Unspecified schizophrenia (disorder)" EXACT [] synonym: "Unspecified schizophrenia, chronic state with acute exacerbation" EXACT [] synonym: "Unspecified schizophrenia, subchronic state with acute exacerbation" EXACT [] synonym: "Unspecified schizophrenia, unspecified state" EXACT [] xref: DOID:5419 xref: ICD10:F20 xref: ICD9:295 xref: ICD9:295.8 xref: ICD9:295.85 xref: ICD9:295.9 xref: MedDRA:10039626 xref: MedDRA:10039637 xref: MedDRA:10039638 xref: MedDRA:10039639 xref: MedDRA:10039640 xref: MedDRA:10052792 xref: MeSH:D012559 xref: NCIt:C3362 xref: NIFSTD:birnlex_2104 xref: OMIM:181500 xref: OMIM:600850 xref: OMIM:603342 xref: OMIM:604906 xref: OMIM:608078 xref: OMIM:613950 xref: OMIM:614332 xref: OMIM:615232 xref: OMIM:617629 xref: SNOMEDCT:58214004 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.38.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replaced with Mondo term\nsee https://github.com/ebispot/efo/issues/1381" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/MONDO_0005090 [Term] id: EFO:0000693 name: schwannoma def: "A benign, usually encapsulated slow growing tumor composed of Schwann cells. It affects peripheral and cranial nerves. It recurs infrequently and only rare cases associated with malignant transformation have been reported." [NCIT:C3269] def: "A benign, usually encapsulated slow growing tumor of the peripheral nervous system composed of well differentiated Schwann cells. It recurs infrequently and only rare cases associated with malignant transformation have been reported." [] def: "A neoplasm that arises from SCHWANN CELLS of the cranial, peripheral, and autonomic nerves. Clinically, these tumors may present as a cranial neuropathy, abdominal or soft tissue mass, intracranial lesion, or with spinal cord compression. Histologically, these tumors are encapsulated, highly vascular, and composed of a homogenous pattern of biphasic fusiform-shaped cells that may have a palisaded appearance (MeSH)." [] def: "A neoplasm that arises from SCHWANN CELLS of the cranial, peripheral, and autonomic nerves. Clinically, these tumors may present as a cranial neuropathy, abdominal or soft tissue mass, intracranial lesion, or with spinal cord compression. Histologically, these tumors are encapsulated, highly vascular, and composed of a homogenous pattern of biphasic fusiform-shaped cells that may have a palisaded appearance. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp964-5)" [] def: "A tumor of the peripheral nervous system composed of neoplastic Schwann cells. The vast majority of schwannomas follow a benign clinical course. Only rare cases associated with a malignant clinical course have been reported." [] subset: gard_rare {source="GARD:0004767"} subset: ordo_disease {source="Orphanet:252164"} synonym: "Acoustic neuroma" EXACT [] synonym: "Ancient neurilemmoma" EXACT [] synonym: "Ancient neurilemmoma (disorder)" EXACT [] synonym: "Ancient neurilemoma" EXACT [] synonym: "Ancient schwannoma" EXACT [] synonym: "Ancient schwannoma (morphologic abnormality)" EXACT [] synonym: "Benign Neurilemmoma" EXACT [] synonym: "benign neurilemmoma" EXACT [MONDO:0004818, NCIT:C3269] synonym: "Benign Schwannoma" EXACT [] synonym: "benign schwannoma" EXACT [MONDO:0016753, NCIT:C3269] synonym: "Cellular schwannoma" EXACT [] synonym: "Degenerated Neurilemmoma" EXACT [] synonym: "Degenerated Schwannoma" EXACT [] synonym: "Malignant Neurilemoma" EXACT [] synonym: "Malignant Neurilemomas" EXACT [] synonym: "Melanocytic Schwannoma" EXACT [] synonym: "Melanotic schwannoma" EXACT [] synonym: "Neurilemmoma" EXACT [] synonym: "neurilemmoma" EXACT [NCIT:C3269, Orphanet:252164] synonym: "Neurilemmoma (disorder)" EXACT [] synonym: "Neurilemmoma, NOS" EXACT [] synonym: "Neurilemmomas" EXACT [] synonym: "Neurilemmosarcoma" EXACT [] synonym: "Neurilemmosarcomas" EXACT [] synonym: "Neurilemoma" EXACT [] synonym: "Neurilemoma (morphologic abnormality)" EXACT [] synonym: "Neurilemoma, Malignant" EXACT [] synonym: "Neurilemomas" EXACT [] synonym: "Neurilemomas, Malignant" EXACT [] synonym: "Neurinoma" EXACT [] synonym: "neurinoma" EXACT [NCIT:C3269] synonym: "Neurinomas" EXACT [] synonym: "neurolemmoma" RELATED [GARD:0004767] synonym: "peripheral fibroblastoma" EXACT [Orphanet:252164] synonym: "Pigmented Schawnnoma" EXACT [] synonym: "Pigmented schwannoma" EXACT [] synonym: "Plexiform schwannoma" EXACT [] synonym: "Plexiform Schwannomatoses" EXACT [] synonym: "Plexiform Schwannomatosis" EXACT [] synonym: "Psammomatous schwannoma" EXACT [] synonym: "psammomatous schwannoma" EXACT [DOID:3192] synonym: "SCHW" RELATED ABBREVIATION [ONCOTREE:SCHW] synonym: "schwannoma" EXACT [] {comment="preferred label from MONDO"} synonym: "schwannoma" EXACT [DOID:3192, NCIT:C3269] synonym: "Schwannoma (WHO Grade I)" EXACT [] synonym: "schwannoma (WHO grade I)" EXACT [NCIT:C3269] synonym: "schwannoma, benign" EXACT [NCIT:C3269] synonym: "Schwannoma, NOS" EXACT [] synonym: "Schwannomas" EXACT [] synonym: "Schwannomatoses, Plexiform" EXACT [] synonym: "Schwannomatosis, Plexiform" EXACT [] xref: DOID:12689 xref: DOID:3192 {source="MONDO:equivalentTo"} xref: DOID:3196 xref: DOID:3206 xref: DOID:955 {source="MONDO:equivalentTo"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9560/0 {source="NCIT:C3269"} xref: MedDRA:10029234 {source="Orphanet:252164", source="Orphanet:252164/e"} xref: MedDRA:10029235 {source="Orphanet:252164", source="Orphanet:252164/e"} xref: MedDRA:10039667 xref: MeSH:D009442 xref: MONDO:0002546 xref: NCIT:C3269 {source="MONDO:equivalentTo"} xref: NCIt:C3269 xref: NIFSTD:birnlex_12603 xref: OMIM:162091 xref: ONCOTREE:SCHW {source="MONDO:equivalentTo"} xref: Orphanet:252164 {source="MONDO:equivalentTo"} xref: SCTID:404022001 {source="MONDO:equivalentTo", source="DOID:3192"} xref: SNOMEDCT:126949007 xref: SNOMEDCT:253086004 xref: SNOMEDCT:253087008 xref: SNOMEDCT:253088003 xref: SNOMEDCT:404022001 xref: SNOMEDCT:404023006 xref: SNOMEDCT:409704009 xref: SNOMEDCT:77418004 xref: SNOMEDCT:985004 xref: UMLS:C0027809 {source="Orphanet:252164", source="MONDO:equivalentTo", source="Orphanet:252164/e", source="DOID:3192", source="NCIT:C3269"} xref: UMLS:CN202001 {source="MONDO:equivalentTo"} is_a: MONDO:0002547 {source="NCIT:C3269", source="ONCOTREE:SCHW"} ! nerve sheath neoplasm is_a: MONDO:0016752 {source="Orphanet:252164"} ! benign peripheral nerve sheath tumor is_a: MONDO:0021637 ! low grade glioma relationship: has_characteristic MONDO:0024491 {source="NCIT:C3269"} ! tumor grade 1, general grading system property_value: closeMatch http://identifiers.org/meddra/10029234 property_value: closeMatch http://identifiers.org/meddra/10029235 property_value: exactMatch DOID:3192 property_value: exactMatch DOID:955 property_value: exactMatch http://identifiers.org/snomedct/404022001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027809 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202001 property_value: exactMatch NCIT:C3269 property_value: exactMatch Orphanet:252164 property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4767/schwannoma xsd:anyURI {source="GARD:0004767"} [Term] id: EFO:0000694 name: severe acute respiratory syndrome alt_id: MONDO:0015370 def: "A coronavirus infectious disease and is_a respiratory system infectious disease that results_in infection located_in respiratory tract, has_agent SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia." [] def: "A respiratory system infectious disease and is_a coronavirus infectious disease that results_in infection located_in respiratory tract, has_agent SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia." [] def: "A respiratory system infectious disease that is a severe respiratory illness characterized by fever, headache, body aches, a dry cough, and hypoxia and pneumonia caused by a single-stranded RNA virus of the genus SARS coronavirus (SARS-CoV)." [] def: "A viral disorder characterized by high FEVER, dry COUGH, shortness of breath (DYSPNEA) or breathing difficulties, and atypical PNEUMONIA. A virus in the genus CORONAVIRUS is the suspected agent." [] def: "A viral respiratory infection caused by the SARS coronavirus. It is transmitted through close person-to-person contact. It is manifested with high fever, headache, dry cough and myalgias. It may progress to pneumonia and cause death." [NCIT:P378] def: "Severe acute respiratory syndrome is a respiratory tract infection described as a severe respiratory illness that is transmitted especially by contact with infectious material (as respiratory droplets or body fluids), is caused by a single-stranded RNA virus of the genus Coronavirus (SARS-CoV), is characterized by fever, headache, body aches, a dry cough, and hypoxia and usually by pneumonia." [] subset: ordo_disease {source="Orphanet:140896"} synonym: "acute respiratory coronavirus infection" EXACT [] synonym: "Respiratory Syndrome, Acute, Severe" EXACT [] synonym: "Respiratory Syndrome, Severe Acute" EXACT [] synonym: "SARS" EXACT ABBREVIATION [DOID:2945] synonym: "SARS ASSOC CORONAVIRUS" EXACT [] synonym: "SARS coronavirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "SARS coronavirus disease or disorder" EXACT [] synonym: "SARS coronavirus infectious disease" EXACT [] synonym: "SARS-associated coronavirus" EXACT [] synonym: "SARS-CoV infection" EXACT [DOID:2945] synonym: "severe acute respiratory syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Severe acute respiratory syndrome (disorder)" EXACT [] xref: DOID:2945 {source="EFO:0000694", source="MONDO:equivalentTo"} xref: ICD9:079.82 {source="EFO:0000694", source="DOID:2945"} xref: MedDRA:10061982 {source="Orphanet:140896/e", source="Orphanet:140896"} xref: MESH:D045169 {source="Orphanet:140896/e", source="EFO:0000694", source="MONDO:equivalentTo", source="DOID:2945", source="Orphanet:140896"} xref: MeSH:D045169 xref: MONDO:0005091 xref: NCIT:C85064 {source="EFO:0000694", source="MONDO:equivalentTo", source="DOID:2945"} xref: NCIt:C85064 xref: Orphanet:140896 {source="MONDO:equivalentTo"} xref: SCTID:398447004 {source="EFO:0000694", source="MONDO:equivalentTo", source="DOID:2945"} xref: SNOMEDCT:398447004 xref: UMLS:C1175175 {source="Orphanet:140896/e", source="MONDO:equivalentTo", source="NCIT:C85064", source="DOID:2945", source="Orphanet:140896"} is_a: EFO:0000684 {source="MESH:D045169/inferred", source="MONDO:Redundant"} ! respiratory system disease is_a: MONDO:0020683 ! acute disease is_a: MONDO:0020753 {source="https://github.com/monarch-initiative/mondo/issues/1355"} ! Orthocoronavirinae infectious disease relationship: EFO:0000784 UBERON:0001004 ! has_disease_location respiratory system relationship: has_characteristic MONDO:0021136 {source="MONDO:0015576"} ! rare property_value: closeMatch http://identifiers.org/meddra/10061982 property_value: exactMatch DOID:2945 property_value: exactMatch http://identifiers.org/mesh/D045169 property_value: exactMatch http://identifiers.org/snomedct/398447004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1175175 property_value: exactMatch NCIT:C85064 property_value: exactMatch Orphanet:140896 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000695 name: obsolete_sex property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.62" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "moving toward PATO quality space, use PATO_0000047 instead." xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PATO_0000047 [Term] id: EFO:0000696 name: shear stressing def: "A process whereby a stress state is applied parallel or tangential to a face of the material." [] is_a: EFO:0002694 ! experimental process property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000697 name: obsolete_sickle cell disease def: "A blood disorder characterized by the appearance of sickle-shaped red blood cells and anemia." [] synonym: "Anemia, Sickle Cell" EXACT [] synonym: "Drepanocythaemia" EXACT [] synonym: "Drepanocythemia" EXACT [] synonym: "Haemoglobin S disease" EXACT [] synonym: "Haemoglobin S-S disease" EXACT [] synonym: "Hb S disease" EXACT [] synonym: "Hb SC disease" EXACT [] synonym: "Hb SS disease" EXACT [] synonym: "HB-S DIS W/O CRISIS NEC" EXACT [] synonym: "Hb-S/Hb-C disease" EXACT [] synonym: "HB-SS DIS NEC W CRISIS" EXACT [] synonym: "Hb-SS disease without crisis" EXACT [] synonym: "Hemoglobin S disease" EXACT [] synonym: "Hemoglobin S disease without crisis (disorder)" EXACT [] synonym: "Hemoglobin S-S disease" EXACT [] synonym: "hemoglobin SC disease" EXACT [] synonym: "Hemoglobin SS disease without crisis (disorder)" EXACT [] synonym: "Hereditary hemoglobinopathy disorder homozygous for hemoglobin S" EXACT [] synonym: "Hereditary hemoglobinopathy disorder homozygous for hemoglobin S (disorder)" EXACT [] synonym: "Other sickle-cell disease with crisis" EXACT [] synonym: "Other sickle-cell disease without crisis" EXACT [] synonym: "Sickle cell anaemia" EXACT [] synonym: "Sickle cell anaemia NOS" EXACT [] synonym: "Sickle cell anaemia of unspecified type" EXACT [] synonym: "Sickle cell anemia" EXACT [] synonym: "Sickle cell anemia NOS" EXACT [] synonym: "Sickle cell anemia NOS (disorder)" EXACT [] synonym: "Sickle cell anemia of unspecified type" EXACT [] synonym: "Sickle cell anemia of unspecified type (disorder)" EXACT [] synonym: "SICKLE CELL DISEASE NOS" EXACT [] synonym: "Sickle cell syndrome" EXACT [] synonym: "Sickle-cell disease" EXACT [] synonym: "Sickle-cell disease, unspecified" EXACT [] synonym: "Sickle-cell/Hb-C disease without crisis" EXACT [] xref: DOID:10923 xref: ICD9:282.6 xref: ICD9:282.60 xref: ICD9:282.68 xref: ICD9:282.69 xref: MeSH:D000755 xref: NCIt:C34383 xref: OMIM:603903 xref: SNOMEDCT:127040003 xref: SNOMEDCT:191195005 xref: SNOMEDCT:191199004 property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_232' instead.\nNew Label : Sickle cell anemia" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_232 [Term] id: EFO:0000698 name: signet ring cell carcinoma def: "A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland." [NCIT:C3774] synonym: "signet ring carcinoma" EXACT [DOID:3493] synonym: "signet ring carcinoma NOS (morphologic abnormality)" EXACT [DOID:3493] synonym: "signet ring cell adenocarcinoma" EXACT [DOID:3493, NCIT:C3774] synonym: "signet ring cell carcinoma" EXACT [DOID:3493, NCIT:C3774] synonym: "signet ring cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "signet ring cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "signet ring cell carcinoma (morphologic abnormality)" EXACT [DOID:3493] xref: DOID:3493 {source="MONDO:equivalentTo", source="EFO:0000698"} xref: EFO:0000698 {source="MONDO:equivalentTo"} xref: ICDO:8490/3 {source="NCIT:C3774"} xref: MESH:D018279 {source="MONDO:equivalentTo", source="EFO:0000698", source="DOID:3493"} xref: MONDO:0005092 xref: NCIT:C3774 {source="MONDO:equivalentTo", source="EFO:0000698", source="DOID:3493"} xref: UMLS:C0206696 {source="MONDO:equivalentTo", source="NCIT:C3774", source="DOID:3493"} is_a: EFO:0000228 {source="DOID:3493", source="MESH:D018279", source="NCIT:C3774"} ! adenocarcinoma property_value: closeMatch http://identifiers.org/snomedct/189701002 property_value: closeMatch http://identifiers.org/snomedct/189702009 property_value: closeMatch http://identifiers.org/snomedct/87737001 property_value: exactMatch DOID:3493 property_value: exactMatch DOID:3493 property_value: exactMatch http://identifiers.org/mesh/D018279 property_value: exactMatch http://identifiers.org/mesh/D018279 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206696 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206696 property_value: exactMatch NCIT:C3774 property_value: exactMatch NCIT:C3774 [Term] id: EFO:0000699 name: Sjogren syndrome def: "An autoimmune disease that results_from attack of immune cells which destroy the exocrine glands that produce tears and saliva." [] def: "An autoimmune disorder affecting the salivary and lacrimal glands. Morphologically, it is characterized by the presence of lymphocytic and plasmacytic infiltrates which cause destruction of these glands. It results in dry mouth and dry eyes. It may be associated with the presence of other autoimmune disorders, including rheumatoid arthritis and lupus erythematosus." [] def: "An autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjögren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of Sjögren syndrome are dry mouth and dry eyes. In addition, Sjogren syndrome may cause skin, nose, and vaginal dryness. It also may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain" [https://rarediseases.info.nih.gov/diseases/10252/sjogren-syndrome] def: "Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis." [] comment: Editor note: check for differences with Mik PMID:10845583 subset: ordo_disease synonym: "Mikulicz disease" EXACT [] synonym: "primary Sjogren-Gougerot syndrome" EXACT [Orphanet:289390] synonym: "primary Sjögren syndrome" RELATED [Orphanet:289390] synonym: "primary Sjögren-Gougerot syndrome" EXACT [Orphanet:289390] synonym: "Sicca (Sjogren's) syndrome" EXACT [] synonym: "Sicca syndrome" EXACT [] synonym: "sicca syndrome" EXACT [DOID:12894, ICD9CM:710.2, OMIM:270150, Orphanet:378] synonym: "Sicca syndrome (disorder)" EXACT [] synonym: "Sjgren's syndrome (disorder)" EXACT [] synonym: "Sjogren syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Sjogren syndrome" EXACT [DOID:12894, OMIM:270150] synonym: "Sjogren's disease" EXACT [] synonym: "SJOGREN'S SYNDROME" EXACT [] synonym: "Sjogren's syndrome" RELATED [DOID:12894] synonym: "Sjogren's syndrome (disorder)" EXACT [] synonym: "Sjogrens Syndrome" EXACT [] synonym: "Sjögren syndrome" EXACT [NCIT:C26883] synonym: "Sjögren-Gougerot syndrome" EXACT [Orphanet:378] synonym: "Syndrome, Sicca" EXACT [] synonym: "Syndrome, Sjogren's" EXACT [] synonym: "syndrome, Sjogren's" EXACT [NCIT:C26883] synonym: "xerodermosteosis" EXACT [DOID:12894] xref: DOID:12894 {source="MONDO:equivalentTo", source="EFO:0000699"} xref: DOID:12900 xref: ICD9:710.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0000699", source="DOID:12894"} xref: MESH:D012859 {source="MONDO:equivalentTo", source="EFO:0000699", source="DOID:12894"} xref: MeSH:D012859 xref: MONDO:0010030 xref: NCIT:C26883 {source="MONDO:equivalentTo", source="EFO:0000699", source="DOID:12894"} xref: NCIt:C26883 xref: OMIM:270150 {source="MONDO:equivalentTo", source="EFO:0000699", source="DOID:12894"} xref: Orphanet:289390 {source="MONDO:equivalentTo"} xref: Orphanet:378 {source="MONDO:equivalentObsolete", source="OMIM:270150"} xref: SCTID:83901003 {source="MONDO:equivalentTo", source="DOID:12894"} is_a: EFO:0005140 ! autoimmune disease is_a: EFO:0008581 {source="MESH:D012859/inferred", source="MONDO:Redundant"} ! salivary gland disease is_a: MONDO:0000586 ! autoimmune disorder of exocrine system is_a: MONDO:0002254 {source="NCIT:C26883"} ! syndromic disease is_a: MONDO:0024625 ! disorder of lacrimal gland relationship: disease_shares_features_of MONDO:0019191 {source="PMID:10845583"} ! IgG4-related dacryoadenitis and sialadenitis relationship: EFO:0000784 UBERON:0001044 ! has_disease_location saliva-secreting gland relationship: EFO:0000784 UBERON:0001817 ! has_disease_location lacrimal gland property_value: exactMatch DOID:12894 property_value: exactMatch http://identifiers.org/mesh/D012859 property_value: exactMatch http://identifiers.org/snomedct/83901003 property_value: exactMatch https://omim.org/entry/270150 property_value: exactMatch NCIT:C26883 property_value: exactMatch Orphanet:289390 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000700 name: integumental cell def: "Cell coming from the intergument, organ that constitutes the external surface of the body. The intergument consists of the epidermis, dermis, and skin appendages." [] synonym: "Integument" EXACT [] is_a: EFO:0000324 ! cell type intersection_of: EFO:0000324 ! cell type intersection_of: located_in UBERON:0002416 ! integumental system property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000701 name: skin disease def: "Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." [NCIT:C3371] subset: rare_grouping synonym: "Cutaneous Disorder" EXACT [] synonym: "cutaneous disorder" EXACT [NCIT:C3371] synonym: "dermatosis" NARROW [https://medical-dictionary.thefreedictionary.com/dermatosis] synonym: "disease of zone of skin" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of zone of skin" EXACT [] synonym: "disorder of skin" EXACT [NCIT:C3371] synonym: "disorder of zone of skin" EXACT [MONDO:patterns/location_top] synonym: "genodermatosis" NARROW [DOID:37] synonym: "skin and subcutaneous tissue disease" EXACT [DOID:37] synonym: "SKIN AND SUBCUTANEOUS TISSUE DISORDERS" EXACT [] synonym: "Skin Diseases and Manifestations" EXACT [] synonym: "skin diseases and manifestations" EXACT [NCIT:C3371] synonym: "Skin Disorder" EXACT [] synonym: "skin disorder" EXACT [NCIT:C3371] synonym: "skin disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "zone of skin disease" EXACT [MONDO:patterns/location] synonym: "zone of skin disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:37 {source="MONDO:equivalentTo", source="EFO:0000701"} xref: ICD10:L08 xref: ICD10:L30 xref: ICD10:L53 xref: ICD10:L91 xref: ICD10:L98 xref: ICD10:R21 xref: ICD9:702 {source="DOID:37"} xref: ICD9:702.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:709.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D012871 {source="DOID:37", source="MONDO:equivalentTo"} xref: MONDO:0005093 xref: NCIT:C3371 {source="DOID:37", source="MONDO:equivalentTo", source="EFO:0000701"} xref: NCIt:C3371 xref: SCTID:95320005 {source="DOID:37", source="MONDO:equivalentTo"} is_a: EFO:0010285 {source="DOID:37", source="MONDO:Redundant"} ! integumentary system disease disjoint_from: EFO:0001460 ! uninfected property_value: exactMatch DOID:37 property_value: exactMatch http://identifiers.org/mesh/D012871 property_value: exactMatch http://identifiers.org/snomedct/95320005 property_value: exactMatch NCIT:C3371 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000702 name: small cell lung carcinoma def: "Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure." [Orphanet:70573] subset: ordo_disease {source="Orphanet:70573"} synonym: "lung oat cell carcinoma" EXACT [NCIT:C4917] synonym: "lung small cell carcinoma" EXACT [MONDO:patterns/location] synonym: "lung small cell neuroendocrine carcinoma" EXACT [NCIT:C4917] synonym: "oat cell carcinoma" BROAD [CSP2005:2017-6589, DOID:5411] synonym: "oat cell carcinoma" BROAD [DOID:5411] synonym: "oat cell carcinoma (morphologic abnormality)" BROAD [DOID:5411] synonym: "oat cell carcinoma of lung" EXACT [NCIT:C4917] synonym: "oat cell carcinoma of the lung" EXACT [NCIT:C4917] synonym: "oat cell lung carcinoma" EXACT [NCIT:C4917] synonym: "poorly differentiated endocrine neoplasm" BROAD [DOID:5411, NCIT:C3915] synonym: "SCLC" BROAD ABBREVIATION [CSP2005:2017-6589, DOID:5409, NCIT:C4917, OMIM:182280, Orphanet:70573] synonym: "SCLC" BROAD ABBREVIATION [DOID:5409, NCIT:C4917, OMIM:182280, Orphanet:70573] synonym: "SCLC1" RELATED ABBREVIATION [OMIM:182280] synonym: "small cell cancer of the lung" RELATED [OMIM:182280] synonym: "small cell cancer of the lung, somatic" EXACT [OMIM:182280, OMIM:genemap2] synonym: "small cell carcinoma of lung" EXACT [DOID:5409, NCIT:C4917] synonym: "small cell carcinoma of the lung" EXACT [NCIT:C4917] synonym: "small cell lung cancer" EXACT [NCIT:C4917] synonym: "small cell lung carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "small cell lung carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "small cell neuroendocrine carcinoma of lung" EXACT [DOID:5409, NCIT:C4917] synonym: "small cell neuroendocrine carcinoma of the lung" EXACT [NCIT:C4917] synonym: "small-cell cancer of lung" EXACT [OMIM:182280, OMIM:genemap2] xref: DOID:5409 {source="MONDO:equivalentTo", source="EFO:0000702"} xref: DOID:5411 {source="MONDO:equivalentTo"} xref: DOID:5411 {source="MONDO:obsoleteEquivalent"} xref: EFO:0000702 {source="MONDO:equivalentTo"} xref: ICD10:C34.9 {source="Orphanet:70573", source="ORDO:70573/ntbt"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: KEGG:05222 {source="MONDO:relatedTo", source="DOID:5409"} xref: MedDRA:10029882 xref: MESH:D055752 {source="MONDO:equivalentTo", source="DOID:5409", source="EFO:0000702"} xref: MONDO:0008433 xref: NCIT:C4917 {source="MONDO:equivalentTo", source="DOID:5409", source="EFO:0000702"} xref: OMIM:182280 {source="Orphanet:70573", source="MONDO:equivalentTo", source="DOID:5409", source="Orphanet:70573/e", source="EFO:0000702"} xref: OMIM:182280 {source="ORDO:70573/e", source="Orphanet:70573", source="MONDO:equivalentTo", source="DOID:5409", source="EFO:0000702"} xref: ONCOTREE:SCLC {source="MONDO:equivalentTo"} xref: Orphanet:70573 {source="MONDO:equivalentTo", source="OMIM:182280"} xref: SCTID:254632001 {source="MONDO:equivalentTo", source="DOID:5409", source="EFO:0000702"} xref: UMLS:C0262584 {source="DOID:5411", source="MONDO:equivalentTo"} xref: UMLS:CN244903 {source="MONDO:equivalentTo"} is_a: EFO:0001071 {source="DOID:5409", source="EFO:0000702", source="MONDO:Redundant", source="NCIT:C4917"} ! lung carcinoma is_a: EFO:0005220 {source="MONDO:Redundant", source="NCIT:C4917/inferred", source="ONCOTREE:SCLC"} ! pulmonary neuroendocrine tumor is_a: EFO:0008524 {source="DOID:5409", source="MONDO:Redundant", source="NCIT:C4917"} ! small cell carcinoma is_a: MONDO:0025511 ! inherited neuroendocrine tumor is_a: Orphanet:271847 ! Genetic endocrine tumor property_value: closeMatch http://identifiers.org/snomedct/189555001 property_value: closeMatch http://identifiers.org/snomedct/74364000 property_value: closeMatch http://identifiers.org/snomedct/76817009 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0149925 property_value: exactMatch DOID:5409 property_value: exactMatch DOID:5409 property_value: exactMatch DOID:5411 property_value: exactMatch DOID:5411 property_value: exactMatch http://identifiers.org/mesh/D055752 property_value: exactMatch http://identifiers.org/mesh/D055752 property_value: exactMatch http://identifiers.org/omim/182280 property_value: exactMatch http://identifiers.org/snomedct/254632001 property_value: exactMatch http://identifiers.org/snomedct/254632001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0262584 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0262584 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244903 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244903 property_value: exactMatch https://omim.org/entry/182280 property_value: exactMatch NCIT:C4917 property_value: exactMatch NCIT:C4917 property_value: exactMatch Orphanet:70573 property_value: exactMatch Orphanet:70573 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/small_cell_carcinoma.yaml property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: narrowMatch http://identifiers.org/snomedct/254633006 [Term] id: EFO:0000705 name: spindle cell tumor def: "A benign or malignant neoplasm characterized by the presence of neoplastic spindle cells." [NCIT:C27263] synonym: "spindle cell neoplasm" EXACT [NCIT:C27263] synonym: "spindle cell neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "spindle cell neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "spindle cell tumor" EXACT [NCIT:C27263] synonym: "spindle cell tumour" EXACT OMO:0003005 [] xref: EFO:0000705 {source="MONDO:equivalentTo"} xref: MONDO:0020664 xref: NCIT:C27263 {source="MONDO:equivalentTo"} is_a: EFO:0000616 {source="https://orcid.org/0000-0001-5208-3432"} ! neoplasm property_value: exactMatch NCIT:C27263 property_value: exactMatch NCIT:C27263 [Term] id: EFO:0000706 name: spondyloarthropathy def: "A group of inflammatory rheumatic diseases associated with arthritis and enthesitis, and often involving the axial skeleton. The most common form of spondyloarthritis is ankylosing spondylitis. Other forms include axial spondyloarthritis, peripheral spondyloarthritis, reactive arthritis, psoriatic arthritis/spondylitis and enteropathic arthritis/spondylitis." [NCIT:C116778] def: "Heterogeneous group of arthritic diseases sharing clinical and radiologic features. They are associated with the HLA-B27 ANTIGEN and some with a triggering infection. Most involve the axial joints in the SPINE, particularly the SACROILIAC JOINT, but can also involve asymmetric peripheral joints. Subsets include ANKYLOSING SPONDYLITIS; REACTIVE ARTHRITIS; PSORIATIC ARTHRITIS; and others." [] subset: gard_rare synonym: "Disorder of joint of spine" EXACT [] synonym: "Disorder of joint of spine (disorder)" EXACT [] synonym: "JOINT DIS NOS-OTH JT" EXACT [] synonym: "OA - Osteoarthritis of spine" EXACT [] synonym: "OA - Osteoarthritis of the spine" EXACT [] synonym: "Osteoarthritis of spine" EXACT [] synonym: "seronegative spondyloarthropathy" EXACT [NCIT:C116778] synonym: "Spondarthropathy" EXACT [] synonym: "spondarthropathy" EXACT [DOID:1123] synonym: "Spondylarthropathies" EXACT [] synonym: "Spondylarthropathy" EXACT [] synonym: "spondylarthropathy" RELATED [GARD:0004971] synonym: "Spondylarthrosis" EXACT [] synonym: "spondylarthrosis" EXACT [DOID:1123] synonym: "Spondylarthrosis NOS" EXACT [] synonym: "Spondylarthrosis, NOS" EXACT [] synonym: "spondyloarthritis" EXACT [NCIT:C116778] synonym: "spondyloarthropathy" EXACT [] {comment="preferred label from MONDO"} synonym: "Spondyloarthropathy (disorder)" EXACT [] synonym: "SPONDYLOS NOS W/O MYELOP" EXACT [] synonym: "Spondylosis" EXACT [] synonym: "Spondylosis (disorder)" EXACT [] synonym: "Spondylosis of unspecified site without mention of myelopathy" EXACT [] synonym: "Spondylosis, NOS" EXACT [] synonym: "Unspecified joint disorder of other specified sites" EXACT [] xref: DOID:1123 {source="EFO:0000706", source="MONDO:equivalentTo"} xref: ICD10:M47 xref: MedDRA:10051265 xref: MeSH:D025242 xref: MESH:D055009 {source="EFO:0000706", source="MONDO:relatedTo"} xref: MeSH:D055009 xref: MONDO:0005095 xref: NCIT:C116778 {source="MONDO:equivalentTo"} xref: OMIM:106300 xref: SCTID:372109003 {source="EFO:0000706", source="DOID:1123", source="MONDO:directSiblingOf"} xref: SCTID:8847002 {source="EFO:0000706", source="MONDO:relatedTo", source="DOID:1123"} xref: SNOMEDCT:372109003 xref: SNOMEDCT:8847002 is_a: EFO:0000540 {source="EFO:0000706"} ! immune system disease is_a: EFO:0005755 ! rheumatic disease is_a: EFO:1000999 {source="DOID:1123", source="NCIT:C116778/inferred"} ! joint disease relationship: EFO:0000784 EFO:0001369 ! has_disease_location vertebral column structure relationship: EFO:0000784 UBERON:0000982 ! has_disease_location skeletal joint property_value: exactMatch DOID:1123 property_value: exactMatch NCIT:C116778 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000707 name: squamous cell carcinoma def: "A carcinoma arising from squamous epithelial cells. Morphologically, it is characterized by the proliferation of atypical, often pleomorphic squamous cells. Squamous cell carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Well differentiated carcinomas are usually associated with keratin production and the presence of intercellular bridges between adjacent cells. Representative examples are lung squamous cell carcinoma, skin squamous cell carcinoma, and cervical squamous cell carcinoma." [NCIT:C2929] synonym: "carcinoma, squamous cell, malignant" EXACT [NCIT:C2929] synonym: "epidermoid carcinoma" EXACT [CSP2005:2000-3145, DOID:1749, NCIT:C2929] synonym: "epidermoid carcinoma" EXACT [DOID:1749, NCIT:C2929] synonym: "epidermoid cell cancer" EXACT [NCIT:C2929] synonym: "malignant epidermoid cell neoplasm" EXACT [NCIT:C2929] synonym: "malignant epidermoid cell tumor" EXACT [NCIT:C2929] synonym: "malignant epidermoid cell tumour" EXACT OMO:0003005 [] synonym: "malignant squamous cell neoplasm" EXACT [NCIT:C2929] synonym: "malignant squamous cell tumor" EXACT [DOID:1749, NCIT:C2929, NCIT:C4971] synonym: "malignant squamous cell tumour" EXACT OMO:0003005 [] synonym: "SCC" EXACT [] synonym: "squamous carcinoma" EXACT [DOID:1749, NCIT:C2929] synonym: "squamous cell cancer" EXACT [DOID:1749, NCIT:C2929] synonym: "squamous cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "squamous cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "squamous cell carcinoma" EXACT [NCIT:C2929] synonym: "squamous cell carcinoma (morphologic abnormality)" EXACT [DOID:1749] synonym: "squamous cell carcinoma NOS (morphologic abnormality)" EXACT [DOID:1749] synonym: "squamous cell epithelioma" EXACT [DOID:1749, NCIT:C2929, NCIT:C8999] xref: DOID:1749 {source="EFO:0000707", source="MONDO:equivalentTo"} xref: EFO:0000707 {source="MONDO:equivalentTo", source="DOID:1749"} xref: GARD:0001091 {source="MONDO:equivalentTo"} xref: ICDO:8070/3 {source="NCIT:C2929"} xref: MESH:D002294 {source="EFO:0000707", source="MONDO:equivalentTo", source="DOID:1749"} xref: MONDO:0005096 xref: NCIT:C2929 {source="EFO:0000707", source="MONDO:equivalentTo", source="exact-label-match", source="DOID:1749"} xref: NCIT:C2929 {source="EFO:0000707", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:1749"} xref: SCTID:402815007 {source="EFO:0000707", source="MONDO:equivalentTo", source="DOID:1749"} xref: UMLS:C0007137 {source="MONDO:equivalentTo", source="NCIT:C2929", source="DOID:1749"} is_a: EFO:0000313 {source="DOID:1749", source="EFO:0000707", source="EFO:0000707/inferred", source="MESH:D002294", source="MONDO:Redundant", source="NCIT:C2929"} ! carcinoma is_a: MONDO:0002532 {source="MESH:D002294", source="NCIT:C2929"} ! squamous cell neoplasm property_value: closeMatch http://identifiers.org/snomedct/154605007 property_value: closeMatch http://identifiers.org/snomedct/189566008 property_value: closeMatch http://identifiers.org/snomedct/28899001 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751688 property_value: exactMatch DOID:1749 property_value: exactMatch DOID:1749 property_value: exactMatch http://identifiers.org/mesh/D002294 property_value: exactMatch http://identifiers.org/mesh/D002294 property_value: exactMatch http://identifiers.org/snomedct/402815007 property_value: exactMatch http://identifiers.org/snomedct/402815007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007137 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007137 property_value: exactMatch NCIT:C2929 property_value: exactMatch NCIT:C2929 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0000708 name: squamous cell lung carcinoma def: "A carcinoma arising from squamous bronchial epithelial cells. It may be keratinizing or non-keratinizing. Keratinizing squamous cell carcinoma is characterized by the presence of keratinization, pearl formation, and/or intercellular bridges. Non-keratinizing squamous cell carcinoma is characterized by the absence of keratinization, pearl formation, and intercellular bridges. Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma." [NCIT:C3493] comment: In DO this is classified as nscLC, but this leads to logical issues as we have a distinct class for squamous nscLC synonym: "epidermoid cell carcinoma of lung" EXACT [NCIT:C3493] synonym: "epidermoid cell carcinoma of the lung" EXACT [DOID:3907, NCIT:C3493] synonym: "epidermoid cell lung carcinoma" EXACT [NCIT:C3493] synonym: "lung squamous cell carcinoma" EXACT [MONDO:patterns/location] synonym: "squamous cell carcinoma of lung" EXACT [DOID:3907, NCIT:C3493] synonym: "squamous cell carcinoma of the lung" EXACT [NCIT:C3493] synonym: "squamous cell lung cancer" EXACT [NCIT:C3493] synonym: "squamous cell lung carcinoma" EXACT [NCIT:C3493] synonym: "squamous cell lung carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "squamous cell lung carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: DOID:3907 {source="EFO:0000708", source="MONDO:equivalentTo"} xref: EFO:0000708 {source="MONDO:equivalentTo"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MONDO:0005097 xref: NCIT:C3493 {source="DOID:3907", source="EFO:0000708", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C3493 {source="DOID:3907", source="EFO:0000708", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:LUSC {source="MONDO:equivalentTo"} xref: SCTID:254634000 {source="DOID:3907", source="EFO:0000708", source="MONDO:equivalentTo"} xref: UMLS:C0149782 {source="DOID:3907", source="NCIT:C3493", source="MONDO:equivalentTo"} is_a: EFO:0000707 {source="DOID:3907", source="EFO:0000708", source="MONDO:Redundant", source="NCIT:C3493"} ! squamous cell carcinoma is_a: EFO:0001071 {source="DOID:3907/inferred", source="EFO:0000708", source="MONDO:Redundant", source="NCIT:C3493"} ! lung carcinoma relationship: EFO:0000784 UBERON:0002048 ! has_disease_location lung property_value: exactMatch DOID:3907 property_value: exactMatch DOID:3907 property_value: exactMatch http://identifiers.org/snomedct/254634000 property_value: exactMatch http://identifiers.org/snomedct/254634000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149782 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149782 property_value: exactMatch NCIT:C3493 property_value: exactMatch NCIT:C3493 property_value: excluded_subClassOf MONDO:0005233 {source="DOID:3907", source="ONCOTREE:LUSC"} property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/squamous_cell_carcinoma.yaml [Term] id: EFO:0000710 name: obsolete_strain def: "A population or type of organisms that is geneticaly different from others of the same species and possessing a set of defined characteristics." [] comment: this class was originally 'strain or line' xref: MO:859 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.8" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "consolodated into organism hierarchy" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000711 name: obsolete_strain factor property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.8" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "consolodated all strains into organism hierarchy" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000712 name: stroke def: "A group of pathological conditions characterized by sudden, non-convulsive loss of neurological function due to BRAIN ISCHEMIA or INTRACRANIAL HEMORRHAGES. Stroke is classified by the type of tissue NECROSIS, such as the anatomic location, vasculature involved, etiology, age of the affected individual, and hemorrhagic vs. non-hemorrhagic nature. (From Adams et al., Principles of Neurology, 6th ed, pp777-810)" [] def: "A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event." [NCIT:C3390] def: "A sudden, nonconvulsive loss of neurologic function due to an ischemic or hemorrhagic intracranial vascular event. In general, cerebrovascular accidents are classified by anatomic location in the brain, vascular distribution, etiology, age of the affected individual, and hemorrhagic vs. nonhemorrhagic nature (MeSH)." [] def: "A sudden, nonconvulsive loss of neurologic function due to an ischemic or hemorrhagic intracranial vascular event. In general, cerebrovascular accidents are classified by anatomic location in the brain, vascular distribution, etiology, age of the affected individual, and hemorrhagic vs. nonhemorrhagic nature. (From Adams et al., Principles of Neurology, 6th ed, pp777-810)" [] def: "Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis." [] comment: Stroke includes two main types, hemorrhagic and ischemic. Both types of stroke can cause acute seizures at the time of the acute event, as well as epilepsy as a long-term complication. In the elderly, cerebrovascular disease and stroke are the most common cause of acute seizures and epilepsy. {xref="https://orcid.org/0000-0001-5208-3432", xref="https://www.epilepsydiagnosis.org/etiology/stroke-overview.html"} synonym: "Acute Cerebrovascular Accident" EXACT [] synonym: "Acute Cerebrovascular Accidents" EXACT [] synonym: "Acute Stroke" EXACT [] synonym: "Acute Strokes" EXACT [] synonym: "Apoplexy" EXACT [] synonym: "Apoplexy, Cerebrovascular" EXACT [] synonym: "Brain Vascular Accident" EXACT [] synonym: "Brain Vascular Accidents" EXACT [] synonym: "cerebral infarction" RELATED [NCIT:C3390] synonym: "Cerebral Stroke" EXACT [] synonym: "Cerebral Strokes" EXACT [] synonym: "Cerebrovascular Accident" EXACT [] synonym: "cerebrovascular accident" EXACT [NCIT:C3390] synonym: "Cerebrovascular accident (disorder)" EXACT [] synonym: "Cerebrovascular accident (disorder) [Ambiguous]" EXACT [] synonym: "CEREBROVASCULAR ACCIDENT, (CVA)" EXACT [] synonym: "cerebrovascular accident, (CVA)" EXACT [NCIT:C3390] synonym: "Cerebrovascular Accident, Acute" EXACT [] synonym: "Cerebrovascular Accidents" EXACT [] synonym: "Cerebrovascular Accidents, Acute" EXACT [] synonym: "Cerebrovascular Apoplexy" EXACT [] synonym: "Cerebrovascular Apoplexya" EXACT [] synonym: "Cerebrovascular Stroke" EXACT [] synonym: "Cerebrovascular Strokes" EXACT [] synonym: "CVA" EXACT ABBREVIATION [NCIT:C3390] synonym: "CVA (cerebral vascular accident)" EXACT [] synonym: "CVA (Cerebrovascular Accident)" EXACT [] synonym: "CVA - Cerebrovascular accident" EXACT [] synonym: "CVA - Cerebrovascular accident unspecified" EXACT [] synonym: "CVA, CEREBROVASCULAR ACCIDENT" EXACT [] synonym: "CVA, cerebrovascular accident" EXACT [NCIT:C3390] synonym: "CVAs (Cerebrovascular Accident)" EXACT [] synonym: "ischemic stroke" EXACT [] synonym: "stroke" EXACT [NCIT:C3390] synonym: "Stroke and cerebrovascular accident unspecified" EXACT [] synonym: "Stroke and cerebrovascular accident unspecified (disorder)" EXACT [] synonym: "stroke disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "Stroke NOS" EXACT [] synonym: "Stroke NOS (disorder)" EXACT [] synonym: "STROKE SYNDROME" EXACT [] synonym: "stroke syndrome" EXACT [NCIT:C3390] synonym: "Stroke, Acute" EXACT [] synonym: "Stroke, Cerebral" EXACT [] synonym: "Stroke, Cerebrovascular" EXACT [] synonym: "Stroke/CVA - undefined" EXACT [] synonym: "Strokes" EXACT [] synonym: "Strokes, Acute" EXACT [] synonym: "Strokes, Cerebral" EXACT [] synonym: "Strokes, Cerebrovascular" EXACT [] synonym: "SYNDROME, STROKE" EXACT [] synonym: "syndrome, stroke" EXACT [NCIT:C3390] synonym: "undetermined stroke" EXACT [NCIT:C3390] synonym: "Vascular Accident, Brain" EXACT [] synonym: "Vascular Accidents, Brain" EXACT [] xref: HP:0001297 xref: ICD10:I64 xref: MedDRA:10042244 xref: MESH:D020521 {source="MONDO:equivalentTo", source="EFO:0000712"} xref: MeSH:D020521 xref: MONDO:0005098 xref: NCIT:C3390 {source="MONDO:equivalentTo", source="EFO:0000712"} xref: NCIt:C3390 xref: NIFSTD:birnlex_12783 {source="EFO:0000712"} xref: OMIM:601367 xref: SCTID:230690007 {source="MONDO:equivalentTo", source="EFO:0000712"} xref: SNOMEDCT:230690007 xref: SNOMEDCT:422504002 is_a: EFO:0003763 {source="MESH:D020521", source="NCIT:C3390"} ! cerebrovascular disorder relationship: disease_has_feature MONDO:0100035 {source="https://orcid.org/0000-0001-8486-0558"} ! structural epilepsy relationship: EFO:0000784 UBERON:0003499 ! has_disease_location brain blood vessel property_value: exactMatch http://identifiers.org/mesh/D020521 property_value: exactMatch http://identifiers.org/snomedct/230690007 property_value: exactMatch NCIT:C3390 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000713 name: subarachnoid hemorrhage def: "Bleeding into the intracranial or spinal SUBARACHNOID SPACE, most resulting from INTRACRANIAL ANEURYSM rupture. It can occur after traumatic injuries (SUBARACHNOID HEMORRHAGE, TRAUMATIC). Clinical features include HEADACHE; NAUSEA; VOMITING, nuchal rigidity, variable neurological deficits and reduced mental status." [] def: "Intracranial hemorrhage into the subarachnoid space." [NCIT:P378] synonym: "Aneurysmal Subarachnoid Hemorrhage" EXACT [] synonym: "Aneurysmal Subarachnoid Hemorrhages" EXACT [] synonym: "Hemorrhage, Aneurysmal Subarachnoid" EXACT [] synonym: "Hemorrhage, Intracranial Subarachnoid" EXACT [] synonym: "Hemorrhage, Perinatal Subarachnoid" EXACT [] synonym: "Hemorrhage, Spontaneous Subarachnoid" EXACT [] synonym: "Hemorrhage, Subarachnoid" EXACT [] synonym: "Hemorrhages, Aneurysmal Subarachnoid" EXACT [] synonym: "Hemorrhages, Intracranial Subarachnoid" EXACT [] synonym: "Hemorrhages, Perinatal Subarachnoid" EXACT [] synonym: "Hemorrhages, Spontaneous Subarachnoid" EXACT [] synonym: "Hemorrhages, Subarachnoid" EXACT [] synonym: "Intracranial Subarachnoid Hemorrhage" EXACT [] synonym: "Intracranial Subarachnoid Hemorrhages" EXACT [] synonym: "Perinatal Subarachnoid Hemorrhage" EXACT [] synonym: "Perinatal Subarachnoid Hemorrhages" EXACT [] synonym: "SAH" EXACT [] synonym: "SAH (Subarachnoid Hemorrhage)" EXACT [] synonym: "SAH - Subarachnoid haemorrhage" EXACT [] synonym: "SAH - Subarachnoid hemorrhage" EXACT [] synonym: "SAHs (Subarachnoid Hemorrhage)" EXACT [] synonym: "Spontaneous Subarachnoid Hemorrhage" EXACT [] synonym: "Spontaneous Subarachnoid Hemorrhages" EXACT [] synonym: "Subarachnoid aneurysmal hemorrhage" EXACT [] synonym: "Subarachnoid haemorrhage" EXACT [] synonym: "subarachnoid haemorrhage (disease)" EXACT OMO:0003005 [] synonym: "Subarachnoid haemorrhage NOS" EXACT [] synonym: "subarachnoid hemorrhage" EXACT [] {comment="preferred label from MONDO"} synonym: "subarachnoid hemorrhage" EXACT [MONDO:ambiguous] synonym: "subarachnoid hemorrhage (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Subarachnoid hemorrhage (disorder)" EXACT [] synonym: "Subarachnoid hemorrhage NOS" EXACT [] synonym: "Subarachnoid hemorrhage NOS (disorder)" EXACT [] synonym: "Subarachnoid Hemorrhage, Aneurysmal" EXACT [] synonym: "Subarachnoid Hemorrhage, Intracranial" EXACT [] synonym: "Subarachnoid Hemorrhage, Perinatal" EXACT [] synonym: "Subarachnoid Hemorrhage, Spontaneous" EXACT [] synonym: "Subarachnoid Hemorrhages" EXACT [] synonym: "Subarachnoid Hemorrhages, Aneurysmal" EXACT [] synonym: "Subarachnoid Hemorrhages, Intracranial" EXACT [] synonym: "Subarachnoid Hemorrhages, Perinatal" EXACT [] synonym: "Subarachnoid Hemorrhages, Spontaneous" EXACT [] xref: HP:0002138 {source="MONDO:otherHierarchy"} xref: ICD10:I60 xref: ICD9:430 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0000713"} xref: MedDRA:10042320 xref: MESH:D013345 {source="MONDO:equivalentTo", source="EFO:0000713"} xref: MeSH:D013345 xref: MONDO:0005099 xref: NCIt:C50757 xref: SCTID:21454007 {source="MONDO:equivalentTo", source="EFO:0000713"} xref: SNOMEDCT:21454007 xref: UMLS:C0038525 {source="MONDO:equivalentTo"} is_a: EFO:0003763 ! cerebrovascular disorder is_a: EFO:0005774 {source="MESH:D013345/inferred", source="MONDO:Redundant"} ! brain disease relationship: EFO:0000784 UBERON:0003499 ! has_disease_location brain blood vessel property_value: exactMatch http://identifiers.org/mesh/D013345 property_value: exactMatch http://identifiers.org/snomedct/21454007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038525 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000589 "subarachnoid hemorrhage (disease)" xsd:string [Term] id: EFO:0000714 name: survival time def: "Time of survival is an information entity which is about the length of time a material entity has survived after some adverse event, such as infection from a disease." [] synonym: "survival" EXACT [] synonym: "time of survival" EXACT [] xref: MeSH:D013534 xref: NCIt:C17177 xref: PERSON: James Malone xref: SNOMEDCT:445320007 is_a: EFO:0004949 ! clinical temporal measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000715 name: survival probability def: "The probabilty of continuance of life or existence especially under adverse conditions; Probably need a parent survival metric or similar" [] is_a: BFO:0000016 ! disposition property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000716 name: obsolete_syndrome def: "A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease." [] property_value: definition:citation "NCI Metathesaurus http://ncimeta.nci.nih.gov/MetaServlet/ResultServlet?cui=C0039082 Date accessed: 30th October 2007" xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.5" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "doesnt' fit in the revised disease classification" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000717 name: systemic scleroderma def: "A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension." [NCIT:C72070] def: "A chronic multi-system disorder of CONNECTIVE TISSUE. It is characterized by SCLEROSIS in the SKIN, the LUNGS, the HEART, the GASTROINTESTINAL TRACT, the KIDNEYS, and the MUSCULOSKELETAL SYSTEM. Other important features include diseased small BLOOD VESSELS and AUTOANTIBODIES. The disorder is named for its most prominent feature (hard skin), and classified into subsets by the extent of skin thickening: LIMITED SCLERODERMA and DIFFUSE SCLERODERMA." [] def: "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies." [] subset: ordo_disease {source="Orphanet:90291"} synonym: "diffuse Scleroderma" EXACT [NCIT:C72070] synonym: "diffuse sclerosis" EXACT [NCIT:C72070] synonym: "Progressive systemic sclerosis" EXACT [] synonym: "progressive systemic sclerosis" EXACT [DOID:418] synonym: "PSS (progressive systemic sclerosis)" EXACT [DOID:418] synonym: "PSS - Progressive systemic sclerosis" EXACT [] synonym: "Scleroderma" BROAD [DOID:418] synonym: "Scleroderma" EXACT [] synonym: "Scleroderma (& [systemic sclerosis])" EXACT [DOID:418] synonym: "Scleroderma syndrome" EXACT [DOID:418] synonym: "Scleroderma, diffuse" EXACT [NCIT:C72070] synonym: "Scleroderma, Systemic" EXACT [] synonym: "Scleroderma, systemic" EXACT [NCIT:C72070] synonym: "Sclerosis, Systemic" EXACT [] synonym: "SS - Systemic sclerosis" EXACT [] synonym: "SSc" EXACT [doi:10.1183/09059180.00005512] synonym: "SSc, diffuse sclerosis" EXACT [NCIT:C72070] synonym: "systemic Scleroderma" EXACT [NCIT:C72070] synonym: "systemic scleroderma" EXACT [NCIT:C72070, Orphanet:90291] synonym: "Systemic sclerosis" EXACT [] synonym: "systemic sclerosis" EXACT [DOID:418, ICD9CM:710.1, MONDO:0019564, NCIT:C72070] synonym: "systemic sclerosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Systemic sclerosis (disorder)" EXACT [] synonym: "Thibierge-Weissenbach syndrome" EXACT [] xref: DOID:418 {source="EFO:0000717", source="MONDO:equivalentTo"} xref: ICD10:M34 xref: ICD9:710.1 {source="EFO:0000717", source="MONDO:equivalentTo", source="DOID:418", source="MONDO:i2s"} xref: MedDRA:10036814 xref: MedDRA:10042953 {source="Orphanet:90291/e", source="Orphanet:90291"} xref: MedDRA:10078638 xref: MESH:D012595 {source="EFO:0000717", source="MONDO:equivalentTo", source="DOID:418"} xref: MeSH:D012595 xref: MONDO:0005100 xref: NCIT:C72070 {source="EFO:0000717", source="MONDO:equivalentTo", source="DOID:418"} xref: NCIt:C72070 xref: Orphanet:90291 {source="MONDO:equivalentTo"} xref: SCTID:89155008 {source="EFO:0000717", source="MONDO:equivalentTo", source="DOID:418"} xref: SNOMEDCT:444133002 xref: SNOMEDCT:89155008 xref: UMLS:CN206012 {source="MONDO:equivalentTo"} is_a: EFO:0000684 ! respiratory system disease is_a: EFO:0000701 {source="DOID:418", source="MESH:D012595", source="MONDO:Redundant"} ! skin disease is_a: EFO:1001993 {source="DOID:418", source="NCIT:C72070", source="Orphanet:90291"} ! scleroderma is_a: MONDO:0100118 ! hereditary skin disorder is_a: MONDO:0100191 ! inherited kidney disorder relationship: EFO:0000784 UBERON:0000014 ! has_disease_location zone of skin property_value: closeMatch http://identifiers.org/meddra/10042953 property_value: exactMatch DOID:418 property_value: exactMatch http://identifiers.org/mesh/D012595 property_value: exactMatch http://identifiers.org/snomedct/89155008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206012 property_value: exactMatch NCIT:C72070 property_value: exactMatch Orphanet:90291 property_value: excluded_subClassOf MONDO:0005087 {source="Orphanet:90291"} property_value: excluded_subClassOf MONDO:0016345 {source="Orphanet:90291"} property_value: excluded_subClassOf MONDO:0019724 {source="Orphanet:90291"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Gautier Koscielny" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000718 name: exposure temperature def: "The temperature that a material is exposed to." [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:0001702 ! is_about temperature property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000719 name: temporal measurement def: "A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" [] is_a: EFO:0001444 ! measurement property_value: IAO:0000112 "The life of an organism, a surgical operation as processual context for a nosocomical infection, the spatiotemporal context occupied by a process of cellular meiosis, the spatiotemporal region occupied by the development of a cancer tumor." xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000720 name: test result def: "The recorded value of the outcome of some test." [] is_a: IAO:0000030 ! information entity property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0000721 name: time xref: MeSH:D013995 xref: NCIt:C25207 xref: SNOMEDCT:410669006 xref: SNOMEDCT:410670007 xref: SNOMEDCT:900000000000475002 is_a: EFO:0000719 ! temporal measurement property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000722 name: obsolete_time before disease progression comment: candidate for deprecation comment: syn of disease free survival property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "created as a synonym of progression free survival" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0004920 [Term] id: EFO:0000723 name: obsolete_time to development of distant metastases comment: synonym of distant metastasis free survival property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Created as a synonym of distant metastasis free survival instead, more commonly used term." xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000412 [Term] id: EFO:0000724 name: timepoint def: "Time point at which a sample or observation is made or taken from a biomaterial as measured from some reference point." [] xref: MO:738 xref: NCIt:C68568 is_a: EFO:0000719 ! temporal measurement property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000726 name: transfection def: "The process of bringing about genetic alteration of any cell or organism by a variety of means including recombinant DNA technology, viruses, chemical mutagens and X-rays." [] synonym: "transfect" EXACT [] xref: MeSH:D014162 xref: MO:849 xref: NCIt:C17209 is_a: EFO:0002694 ! experimental process property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000727 name: treatment def: "A planned process intended to modify or alter a condition or characteristic of an organism or individual." [] xref: MO:23 is_a: EFO:0004542 ! planned process property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string [Term] id: EFO:0000728 name: obsolete_tumor def: "An abnormal mass of tissue that results from excessive cell division. Tumors perform no useful body function. They may be benign (not cancerous) or malignant (cancerous)." [] property_value: definition:citation "NCI Metathesaurus" xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.8" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "merged with neoplasm EFO_0000616" xsd:string property_value: IAO:0000112 "Breast_Tumor_Luminal" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000616 [Term] id: EFO:0000729 name: ulcerative colitis def: "An inflammatory bowel disease involving the mucosal surface of the large intestine and rectum. It may present with an acute or slow onset and follows an intermittent or continuous course. Signs and symptoms include abdominal pain, diarrhea, fever, weight loss, and intestinal hemorrhage." [NCIT:P378] def: "Inflammation of the COLON that is predominantly confined to the MUCOSA. Its major symptoms include DIARRHEA, rectal BLEEDING, the passage of MUCUS, and ABDOMINAL PAIN." [] synonym: "colitis ulcerative" EXACT [NCIT:C2952] synonym: "Colitis, Ulcerative" EXACT [] synonym: "Left-sided ulcerative (chronic) colitis" EXACT [] synonym: "Left-sided ulcerative colitis" EXACT [] synonym: "left-sided ulcerative colitis" NARROW [DOID:8577] synonym: "Other ulcerative colitis" EXACT [] synonym: "Other ulcerative colitis (disorder)" EXACT [] synonym: "UC" EXACT [] synonym: "UC - ulcerative colitis" EXACT [] synonym: "ulcerative colitis" EXACT [] {comment="preferred label from MONDO"} synonym: "ulcerative colitis" EXACT [MONDO:ambiguous, NCIT:C2952] synonym: "ulcerative colitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "ulcerative colitis (disorder)" EXACT [] synonym: "Ulcerative colitis, unspecified" EXACT [] synonym: "ulcerative proctosigmoiditis" RELATED [Orphanet:771] synonym: "ULCERATVE COLITIS UNSPCF" EXACT [] xref: DOID:8577 {source="EFO:0000729", source="MONDO:equivalentTo"} xref: HP:0100279 {source="MONDO:otherHierarchy"} xref: ICD10:K51 xref: ICD9:556 {source="EFO:0000729", source="DOID:8577"} xref: ICD9:556.5 {source="DOID:8577"} xref: ICD9:556.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:556.9 {source="DOID:8577", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10045365 xref: MedDRA:10045366 xref: MESH:D003093 {source="EFO:0000729", source="DOID:8577", source="MONDO:equivalentTo"} xref: MeSH:D003093 xref: MONDO:0005101 xref: NCIT:C2952 {source="EFO:0000729", source="DOID:8577", source="MONDO:equivalentTo"} xref: NCIt:C2952 xref: OMIM:266600 xref: Orphanet:771 {source="MONDO:equivalentObsolete"} xref: SCTID:64766004 {source="EFO:0000729", source="DOID:8577", source="MONDO:equivalentTo"} xref: SNOMEDCT:64766004 xref: UMLS:C0009324 {source="DOID:8577", source="MONDO:equivalentTo", source="NCIT:C2952"} is_a: EFO:0003872 {source="DOID:8577", source="MESH:D003093"} ! colitis relationship: EFO:0000784 UBERON:0001155 ! has_disease_location colon property_value: exactMatch DOID:8577 property_value: exactMatch http://identifiers.org/mesh/D003093 property_value: exactMatch http://identifiers.org/snomedct/64766004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009324 property_value: exactMatch NCIT:C2952 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: IAO:0000589 "ulcerative colitis (disease)" xsd:string [Term] id: EFO:0000730 name: undifferentiated sarcoma def: "An aggressive malignant mesenchymal neoplasm that arises from the liver and usually occurs in older children. It is composed of immature spindle, stellate, polymorphous, and giant cells." [NCIT:C27096] synonym: "embryonal sarcoma" EXACT [NCIT:C27096] synonym: "embryonal sarcoma (undifferentiated sarcoma)" EXACT [NCIT:C27096] synonym: "embryonal sarcoma, undifferentiated" EXACT [NCIT:C27096] synonym: "sarcoma, undifferentiated, malignant" EXACT [NCIT:C27096] synonym: "UES" EXACT ABBREVIATION [NCIT:C27096] synonym: "undifferentiated (embryonal) sarcoma" EXACT [NCIT:C27096] synonym: "undifferentiated (embryonal) sarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "undifferentiated (embryonal) sarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "undifferentiated sarcoma" EXACT [NCIT:C27096] xref: EFO:0000730 {source="MONDO:equivalentTo"} xref: GARD:0008650 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: ICDO:8805/3 {source="NCIT:C27096"} xref: ICDO:8991/3 {source="NCIT:C27096"} xref: MONDO:0005102 xref: NCIT:C27096 {source="EFO:0000730", source="MONDO:equivalentTo"} xref: UMLS:C0855073 {source="MONDO:equivalentTo", source="NCIT:C27096"} is_a: MONDO:0002397 {source="NCIT:C27096"} ! liver sarcoma property_value: closeMatch http://identifiers.org/snomedct/128734000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0855073 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0855073 property_value: exactMatch NCIT:C27096 property_value: exactMatch NCIT:C27096 [Term] id: EFO:0000731 name: uterine fibroid def: "A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C3434] synonym: "body of uterus fibroid" EXACT [NCIT:C3434] synonym: "body of uterus leiomyoma" EXACT [MONDO:patterns/location, NCIT:C3434] synonym: "corpus uteri fibroid" EXACT [NCIT:C3434] synonym: "corpus uteri leiomyoma" EXACT [NCIT:C3434] synonym: "fibroid of body of uterus" EXACT [NCIT:C3434] synonym: "fibroid of corpus uteri" EXACT [NCIT:C3434] synonym: "fibroid of the body of uterus" EXACT [NCIT:C3434] synonym: "fibroid of the corpus uteri" EXACT [NCIT:C3434] synonym: "fibroid of the uterine body" EXACT [NCIT:C3434] synonym: "fibroid of the uterine corpus" EXACT [NCIT:C3434] synonym: "fibroid of uterine body" EXACT [NCIT:C3434] synonym: "fibroid of uterine corpus" EXACT [NCIT:C3434] synonym: "leiomyoma of body of uterus" EXACT [NCIT:C3434] synonym: "leiomyoma of corpus uteri" EXACT [DOID:13223, NCIT:C3434] synonym: "leiomyoma of the body of uterus" EXACT [NCIT:C3434] synonym: "leiomyoma of the corpus uteri" EXACT [NCIT:C3434] synonym: "leiomyoma of the uterine body" EXACT [NCIT:C3434] synonym: "leiomyoma of the uterine corpus" EXACT [NCIT:C3434] synonym: "leiomyoma of uterine body" EXACT [NCIT:C3434] synonym: "leiomyoma of uterine corpus" EXACT [NCIT:C3434] synonym: "leiomyoma, uterine" RELATED [MONDO:Lexical, OMIM:150699] synonym: "plexiform leiomyoma" EXACT [DOID:13223] synonym: "UL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:150699] synonym: "uterine body fibroid" EXACT [NCIT:C3434] synonym: "uterine body leiomyoma" EXACT [NCIT:C3434] synonym: "uterine corpus fibroid" EXACT [NCIT:C3434] synonym: "uterine corpus leiomyoma" EXACT [NCIT:C3434] synonym: "uterine corpus leiomyoma" EXACT [] {comment="preferred label from MONDO"} synonym: "uterine corpus leiomyoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "uterine corpus leiomyomata" EXACT [NCIT:C3434] synonym: "uterine fibroid" EXACT [NCIT:C3434] synonym: "uterine leiomyoma" RELATED [DOID:13223, ICD9CM_2006:218] synonym: "uterine leiomyoma" RELATED [DOID:13223, ICD9CM:218] synonym: "uterus fibroma" RELATED [DOID:13223, MTH:769] xref: COHD:197236 {source="MONDO:equivalentTo"} xref: DOID:13223 {source="MONDO:equivalentTo", source="EFO:0000731"} xref: EFO:0000731 {source="MONDO:equivalentTo", source="DOID:13223"} xref: HP:0000131 {source="MONDO:otherHierarchy", source="DOID:13223"} xref: ICD10:D25 {source="DOID:13223"} xref: ICD10:D25.9 {source="DOID:13223"} xref: ICD9:218 {source="EFO:0000731", source="DOID:13223"} xref: ICD9:218.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0000731", source="DOID:13223"} xref: ICD9:218.9 {source="MONDO:equivalentTo", source="i2s", source="EFO:0000731", source="DOID:13223"} xref: MESH:D047708 {source="EFO:0000731", source="MONDO:directSiblingOf"} xref: MONDO:0007886 xref: NCIT:C3434 {source="MONDO:equivalentTo", source="EFO:0000731", source="DOID:13223"} xref: NCIT:C3434 {source="DesignPattern", source="MONDO:equivalentTo", source="EFO:0000731", source="DOID:13223"} xref: NCIT:C7052 {source="EFO:0000731", source="MONDO:directSiblingOf"} xref: OMIM:150699 {source="MONDO:equivalentTo", source="DOID:13223"} xref: ONCOTREE:ULM {source="MONDO:equivalentTo"} xref: SCTID:95315005 {source="MONDO:equivalentTo", source="EFO:0000731", source="DOID:13223"} xref: UMLS:C0042133 {source="OMIM:150699", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C3434", source="DOID:13223"} xref: UMLS:C0042133 {source="OMIM:150699", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C3434", source="DOID:13223"} xref: UMLS:C2242776 {source="MONDO:equivalentTo"} is_a: EFO:0002424 {source="DOID:13223"} ! fibroma is_a: MONDO:0001572 {source="MONDO:Redundant", source="NCIT:C3434"} ! leiomyoma is_a: MONDO:0017127 ! inherited soft tissue tumor is_a: MONDO:0021525 {source="MONDO:Redundant", source="NCIT:C3434"} ! benign neoplasm of corpus uteri is_a: MONDO:0023603 ! hereditary disorder of connective tissue is_a: Orphanet:271832 ! Genetic soft tissue tumor relationship: EFO:0000784 UBERON:0000995 ! has_disease_location uterus property_value: closeMatch http://identifiers.org/snomedct/128917003 property_value: closeMatch http://identifiers.org/snomedct/154616000 property_value: closeMatch http://identifiers.org/snomedct/189106003 property_value: closeMatch http://identifiers.org/snomedct/44598004 property_value: closeMatch http://identifiers.org/snomedct/702978006 property_value: exactMatch DOID:13223 property_value: exactMatch DOID:13223 property_value: exactMatch http://identifiers.org/omim/150699 property_value: exactMatch http://identifiers.org/snomedct/95315005 property_value: exactMatch http://identifiers.org/snomedct/95315005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042133 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042133 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2242776 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2242776 property_value: exactMatch https://omim.org/entry/150699 property_value: exactMatch NCIT:C3434 property_value: exactMatch NCIT:C3434 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/leiomyoma.yaml property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:0000732 name: vehicle role def: "A carrier or inert medium used as a solvent (or diluent) in which some compound is formulated and or administered." [] is_a: CHEBI:51086 ! chemical role relationship: characteristic_of CHEBI:24431 ! chemical entity property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000733 name: obsolete_virus strain def: "Strain or line specific to virus" [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.8" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000734 name: vitamin B12 deficiency def: "A disease characterized by low serum levels of vitamin B12, either inherited or acquired." [MONDO:cjm, PMID:16846473] def: "A nutritional condition produced by a deficiency of VITAMIN B 12 in the diet, characterized by megaloblastic anemia. Since vitamin B 12 is not present in plants, humans have obtained their supply from animal products, from multivitamin supplements in the form of pills, and as additives to food preparations. A wide variety of neuropsychiatric abnormalities is also seen in vitamin B 12 deficiency and appears to be due to an undefined defect involving myelin synthesis. (From Cecil Textbook of Medicine, 19th ed, p848)" [] synonym: "Cobalamin deficiency" EXACT [] synonym: "cobalamin deficiency" EXACT [] synonym: "Cobalamin deficiency (disorder)" EXACT [] synonym: "DEFIC VITAMIN B 12" EXACT [] synonym: "DEFIC VITAMIN B12" EXACT [] synonym: "Deficiencies, Vitamin B12" EXACT [] synonym: "Deficiency of vitamin B12" EXACT [] synonym: "Deficiency of vitamin B12" EXACT [] synonym: "Deficiency of vitamin B>12<" EXACT [] synonym: "Deficiency of vitamin B>12< (disorder)" EXACT [] synonym: "Deficiency, Vitamin B 12" EXACT [] synonym: "Deficiency, Vitamin B12" EXACT [] synonym: "hypocobalaminemia" EXACT [NCIT:C131684] synonym: "VITAMIN B 12 DEFIC" EXACT [] synonym: "Vitamin B 12 Deficiency" EXACT [] synonym: "VITAMIN B A 12 DEFICIENCY" EXACT [] synonym: "VITAMIN B12 DEFIC" EXACT [] synonym: "Vitamin B12 Deficiencies" EXACT [] synonym: "vitamin B12 deficiency" EXACT [] {comment="preferred label from MONDO"} synonym: "vitamin b12 deficiency" EXACT [NCIT:C131684] xref: DOID:0050731 xref: HP:0100502 {source="MONDO:otherHierarchy"} xref: ICD10:D51 xref: ICD9:266.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10047609 xref: MESH:D014806 {source="MONDO:equivalentTo"} xref: MeSH:D014806 xref: MONDO:0020696 xref: NCIT:C131684 {source="MONDO:equivalentTo"} xref: OMIM:193090 xref: SCTID:190634004 {source="MONDO:equivalentTo"} xref: SNOMEDCT:190634004 xref: UMLS:C0042847 {source="MONDO:equivalentTo", source="NCIT:C131684"} is_a: EFO:0005878 ! vitamin deficiency is_a: MONDO:0042976 {source="NCIT:C131684"} ! vitamin B deficiency property_value: exactMatch http://identifiers.org/mesh/D014806 property_value: exactMatch http://identifiers.org/snomedct/190634004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042847 property_value: exactMatch NCIT:C131684 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000735 name: washing def: "The process of applying a solvent (e.g. water) or some solution (e.g. SSC/SDS) to a BioMaterial or an array to remove impurities or unwanted compounds." [] is_a: EFO:0002694 ! experimental process property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000736 name: well-differentiated liposarcoma def: "A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia. It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma. These tumors do not usually metastasize unless they undergo dedifferentiation." [NCIT:P378] subset: ordo_histopathological_subtype {source="Orphanet:99971"} synonym: "ALT" EXACT ABBREVIATION [Orphanet:99971] synonym: "atypical lipoma" EXACT [Orphanet:99971] synonym: "atypical lipomatous tumor" BROAD [Orphanet:99971] synonym: "atypical lipomatous tumor" EXACT [Orphanet:99971] synonym: "atypical lipomatous tumour" BROAD OMO:0003005 [] synonym: "WDLS" EXACT ABBREVIATION [Orphanet:99971] synonym: "well differentiated liposarcoma" EXACT [NCIT:C4250] synonym: "well differentiated liposarcoma of deep soft tissue" EXACT [NCIT:C4250] synonym: "well-differentiated liposarcoma" EXACT [NCIT:C4250] synonym: "well-differentiated liposarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "well-differentiated liposarcoma" EXACT [] {comment="preferred label from MONDO"} xref: EFO:0000736 {source="MONDO:equivalentTo"} xref: ICD10:C49.9 {source="ORDO:99971/ntbt", source="Orphanet:99971"} xref: ICDO:8851/3 {source="NCIT:C4250"} xref: MONDO:0005103 xref: NCIT:C4250 {source="MONDO:equivalentObsolete", source="EFO:0000736"} xref: NCIT:C4250 {source="MONDO:equivalentTo", source="EFO:0000736"} xref: ONCOTREE:WDLS {source="MONDO:equivalentTo"} xref: Orphanet:99971 {source="MONDO:equivalentTo"} xref: UMLS:C1370889 {source="NCIT:C4250", source="MONDO:equivalentTo", source="ORDO:99971/e", source="Orphanet:99971"} xref: UMLS:C1370889 {source="NCIT:C4250", source="Orphanet:99971/e", source="MONDO:equivalentTo", source="Orphanet:99971"} is_a: EFO:0000569 {source="EFO:0000736", source="NCIT:C4250", source="ONCOTREE:WDLS", source="Orphanet:99971"} ! liposarcoma relationship: EFO:0000784 UBERON:0001013 ! has_disease_location adipose tissue property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1370889 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1370889 property_value: exactMatch NCIT:C4250 property_value: exactMatch Orphanet:99971 [Term] id: EFO:0000737 name: well-differentiated sarcoma def: "Cancer cells are given a score of 1 to 3, with 1 being assigned when they look similar to normal cells and 3 being used when the cancer cells look very abnormal. Certain types of sarcoma are given a higher score automatically. See also NCIt:C9419 (Synonym of AJCC G1 Sarcoma)" [EFO:0000737] synonym: "aJCC G1 sarcoma" RELATED [NCIT:C9419] synonym: "aJCC grade 1 sarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "aJCC grade 1 sarcoma" EXACT [NCIT:C9419] synonym: "aJCC grade 1 sarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "aJCC grade I sarcoma" RELATED [NCIT:C9419] synonym: "well differentiated sarcoma" RELATED [NCIT:C9419] xref: EFO:0000737 {source="MONDO:equivalentTo"} xref: MONDO:0005104 xref: NCIT:C9419 {source="MONDO:equivalentTo", source="EFO:0000737"} xref: UMLS:C1332066 {source="MONDO:equivalentTo", source="NCIT:C9419"} is_a: EFO:0000691 {source="EFO:0000737", source="NCIT:C9419/inferred"} ! sarcoma relationship: has_characteristic MONDO:0024491 {source="NCIT:C9419"} ! tumor grade 1, general grading system property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332066 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332066 property_value: exactMatch NCIT:C9419 property_value: exactMatch NCIT:C9419 [Term] id: EFO:0000738 name: obsolete_white blood cell def: "A nucleated cell of the myeloid or lymphoid lineages, found in blood or other tissue." [] comment: use leukocyte EFO_0000566 xref: CL:0000738 property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000746 name: proteomic profiling def: "An assay where proteins in a sample are detected, quantified or otherwise analysed, e.g. antibody profiling" [] xref: NCIt:C62669 is_a: EFO:0002694 ! experimental process property_value: ArrayExpress:label "Proteomic profiling" xsd:string property_value: definition:citation "ArrayExpress production team" xsd:string property_value: IAO:0000112 "Antibody profiling experiment" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000747 name: antigen profiling def: "An assay where an antigen array is used (antigens deposited on the array) to detect, quantify or otherwise analyse antibodies in solution." [] is_a: EFO:0001458 ! protein assay property_value: ArrayExpress:label "Antigen profiling" xsd:string property_value: definition:citation "ArrayExpress production team" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000748 name: ChIP-Chip def: "An experiment where chromatin immunoprecipitation (ChIP) is used in combination with microarray technology." [] is_a: EFO:0001456 ! DNA assay is_a: OBI:0001700 ! immunoprecipitation assay property_value: definition:citation " http://en.wikipedia.org/wiki/ChIP-on-chip" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000749 name: comparative genomic hybridization by array def: "An assay in which changes in DNA sequence copy number are analysed using a microarray. For example the analysis of LOH in tumor cells vs a non diseased sample or the comparison of clinical isolated of disease causing bacteria." [] is_a: EFO:0001456 ! DNA assay is_a: EFO:0002696 ! assay by array relationship: RO:0000057 EFO:0002701 ! has_participant DNA array property_value: ArrayExpress:label "CGH by array" xsd:string property_value: definition:citation "ArrayExpress production team" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000750 name: genotyping def: "An assay in which variation in a part of or the whole genome is analysed" [] xref: NCIt:C45447 is_a: EFO:0002694 ! experimental process property_value: ArrayExpress:label "Genotyping" xsd:string property_value: definition:citation "ArrayExpress production team" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000751 name: methylation profiling def: "An assay in which the methylation state is determined and is compared between samples." [] is_a: EFO:0001456 ! DNA assay property_value: ArrayExpress:label "Methylation profiling" xsd:string property_value: definition:citation "ArrayExpress production team" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000752 name: metabolomic profiling def: "An assay in which one or more metabolites are analysed." [] synonym: "metabolimic profiling" EXACT [] is_a: EFO:0002772 ! assay by molecule property_value: ArrayExpress:label "Metabolomic profiling" xsd:string property_value: definition:citation "ArrayExpress production team" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000753 name: microRNA profiling by array def: "An assay in which a microRNA array is used to analyse the microRNA component of the transcriptome." [] is_a: EFO:0001457 ! RNA assay is_a: EFO:0002696 ! assay by array relationship: RO:0000057 EFO:0002701 ! has_participant DNA array property_value: ArrayExpress:label "MicroRNA profiling by array" xsd:string property_value: definition:citation "ArrayExpress production team" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000754 name: obsolete_re-sequencing def: "An experiment in which re-sequencing technology (Solexa/454) is used to generate sequence which can be used to determine nucleic acid sequence, analyse the transcibed regions of the genome, or to quantitate transcript abundance" [] property_value: definition:citation "ArrayExpress production team" xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.8" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Split into two terms. RNA-seq and DNA-seq" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0000755 name: obsolete_colorectal carcinoma property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.6.1" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://www.ebi.ac.uk/efo/EFO_0000365 colorectal adenocarcinoma" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000365 [Term] id: EFO:0000756 name: melanoma def: "A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." [NCIT:C3224] synonym: "malignant melanoma" EXACT [DOID:1909, NCIT:C3224] synonym: "melanoma" EXACT [] {comment="preferred label from MONDO"} synonym: "melanoma" EXACT [MONDO:ambiguous, NCIT:C3224] synonym: "melanoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "melanoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "melanoma, malignant" EXACT [NCIT:C3224] synonym: "Naevocarcinoma" EXACT [DOID:1909] xref: DOID:1909 {source="MONDO:equivalentTo", source="EFO:0000756"} xref: EFO:0000756 {source="DOID:1909", source="MONDO:equivalentTo"} xref: HP:0002861 {source="MONDO:otherHierarchy"} xref: ICDO:8720/3 {source="NCIT:C3224"} xref: KEGG:05218 {source="MONDO:relatedTo", source="DOID:1909"} xref: MESH:D008545 {source="DOID:1909", source="MONDO:equivalentTo", source="EFO:0000756"} xref: MONDO:0005105 xref: NCIT:C3224 {source="DOID:1909", source="MONDO:equivalentTo", source="EFO:0000756"} xref: OMIM:155600 xref: OMIM:155755 xref: ONCOTREE:MEL {source="MONDO:equivalentTo"} xref: Orphanet:411533 {source="MONDO:equivalentObsolete"} xref: SCTID:372244006 {source="DOID:1909", source="MONDO:equivalentTo", source="EFO:0000756"} xref: UMLS:C0025202 {source="DOID:1909", source="MONDO:equivalentTo", source="NCIT:C3224"} xref: UMLS:CN971653 {source="MONDO:equivalentTo"} is_a: MONDO:0021143 {source="MESH:D008545", source="MONDO:Redundant", source="NCIT:C3224"} ! melanocytic neoplasm relationship: EFO:0000784 UBERON:0000014 ! has_disease_location zone of skin property_value: closeMatch http://identifiers.org/snomedct/154501005 property_value: closeMatch http://identifiers.org/snomedct/189749008 property_value: closeMatch http://identifiers.org/snomedct/2092003 property_value: closeMatch http://identifiers.org/snomedct/269503007 property_value: closeMatch http://identifiers.org/snomedct/269577007 property_value: exactMatch DOID:1909 property_value: exactMatch DOID:1909 property_value: exactMatch http://identifiers.org/mesh/D008545 property_value: exactMatch http://identifiers.org/mesh/D008545 property_value: exactMatch http://identifiers.org/snomedct/372244006 property_value: exactMatch http://identifiers.org/snomedct/372244006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025202 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025202 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN971653 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN971653 property_value: exactMatch NCIT:C3224 property_value: exactMatch NCIT:C3224 property_value: excluded_subClassOf MONDO:0019496 {source="MESH:D008545"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000589 "melanoma (disease)" xsd:string [Term] id: EFO:0000757 name: obsolete_muscular dystrophy def: "An atrophic muscular disease that causes progressive weakness and degeneration of skeletal muscles used during voluntary movement." [] synonym: "Dystrophies, Muscular" EXACT [] synonym: "Dystrophy, Muscular" EXACT [] synonym: "HERED PROG MUSC DYSTRPHY" EXACT [] synonym: "Hereditary progressive muscular dystrophy" EXACT [] synonym: "Hereditary progressive muscular dystrophy (disorder)" EXACT [] synonym: "Hereditary progressive muscular dystrophy NOS" EXACT [] synonym: "Hereditary progressive muscular dystrophy NOS (disorder)" EXACT [] synonym: "MD - Muscular dystrophy" EXACT [] synonym: "Muscular Dystrophies" EXACT [] synonym: "Muscular dystrophy (disorder)" EXACT [] synonym: "Muscular dystrophy, NOS" EXACT [] synonym: "Myodystrophica" EXACT [] synonym: "Myodystrophicas" EXACT [] synonym: "Myodystrophies" EXACT [] synonym: "Myodystrophy" EXACT [] synonym: "PMD - Progressive muscular dystrophy" EXACT [] synonym: "Progressive muscular dystrophy" EXACT [] xref: DOID:9884 xref: ICD9:359.1 xref: MeSH:D009136 xref: SNOMEDCT:193225000 xref: SNOMEDCT:193236007 xref: SNOMEDCT:73297009 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_98473' instead.\nNew Label : Muscular dystrophy" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_98473 [Term] id: EFO:0000758 name: obsolete_limb-girdle muscular dystrophy def: "A heterogenous group of inherited muscular dystrophy that can be autosomal dominant or autosomal recessive. There are many forms (called LGMDs) involving genes encoding muscle membrane proteins such as the sarcoglycan (SARCOGLYCANS) complex that interacts with DYSTROPHIN. The disease is characterized by progressing wasting and weakness of the proximal muscles of arms and legs around the HIPS and SHOULDERS (the pelvic and shoulder girdles)." [] synonym: "calpainopathy" EXACT [] synonym: "Erb's muscular dystrophy" EXACT [] synonym: "Leyden-Mbius muscular dystrophy" EXACT [] synonym: "Leyden-Mobius muscular dystrophy" EXACT [] synonym: "Limb Girdle Muscular Dystrophies" EXACT [] synonym: "limb girdle muscular dystrophy" EXACT [] synonym: "limb-girdle muscular dystrophies" EXACT [] synonym: "Limb-girdle muscular dystrophy (disorder)" EXACT [] synonym: "Muscular Dystrophies, Limb Girdle" EXACT [] synonym: "Muscular Dystrophies, Limb-Girdle" EXACT [] synonym: "Muscular Dystrophy, Limb Girdle" EXACT [] synonym: "Muscular dystrophy, limb-girdle" EXACT [] xref: DOID:11724 xref: MeSH:D049288 xref: OMIM:253600 xref: SNOMEDCT:93153005 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_263' instead.\nNew Label : Limb-girdle muscular dystrophy" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_263 [Term] id: EFO:0000759 name: lipoma def: "A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue." [NCIT:C3192] synonym: "benign lipomatous tumour" RELATED OMO:0003005 [] synonym: "benign tumor of adipose tissue" EXACT [DOID:3315, NCIT:C4502] synonym: "benign tumour of adipose tissue" EXACT OMO:0003005 [] synonym: "lipoma" EXACT [] {comment="preferred label from MONDO"} synonym: "lipoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "lipoma" EXACT [NCIT:C3192] synonym: "lipoma, benign" EXACT [NCIT:C3192] synonym: "lipomatosis, familial multiple" EXACT [DOID:3315] synonym: "lipomatous neoplasm" EXACT [DOID:3315] synonym: "lipomatous neoplasm" RELATED [DOID:3315] synonym: "lipomatous neoplasm (morphologic abnormality)" EXACT [DOID:3315] synonym: "lipomatous tumor" EXACT [DOID:3315, NCIT:C4248] synonym: "lipomatous tumor" RELATED [DOID:3315, NCIT:C4248] synonym: "lipomatous tumour" RELATED OMO:0003005 [] synonym: "multiple lipomatosis" NARROW [DOID:3315] synonym: "tumour of adipose tissue" RELATED OMO:0003005 [] xref: COHD:440358 {source="MONDO:equivalentTo"} xref: DOID:3315 {source="MONDO:equivalentTo", source="EFO:0000759"} xref: EFO:0000759 {source="MONDO:equivalentTo"} xref: ICD10:D17 {source="DOID:3315"} xref: ICD10:D17.9 {source="DOID:3315"} xref: ICD9:214 {source="DOID:3315", source="EFO:0000759"} xref: ICD9:214.9 {source="DOID:3315"} xref: ICD9:214.9 {source="DOID:3315", source="MONDO:superClassOf"} xref: ICDO:8850/0 {source="NCIT:C3192"} xref: MESH:D008067 {source="DOID:3315", source="MONDO:equivalentTo", source="EFO:0000759"} xref: MONDO:0005106 xref: NCIT:C3192 {source="DOID:3315", source="MONDO:equivalentTo", source="EFO:0000759"} xref: OMIM:151900 xref: SCTID:254831005 {source="MONDO:relatedTo", source="DOID:3315"} xref: SCTID:93163002 {source="DOID:3315", source="MONDO:equivalentTo"} xref: SCTID:93163002 {source="DOID:3315", source="MONDO:equivalentTo", source="MONDO:superClassOf"} xref: UMLS:C0023798 {source="DOID:3315", source="MONDO:equivalentTo", source="NCIT:C3192"} xref: UMLS:C0206631 {source="MONDO:relatedTo", source="DOID:3315"} is_a: MONDO:0044983 {source="NCIT:C3192"} ! benign lipomatous neoplasm property_value: closeMatch http://identifiers.org/mesh/D018205 property_value: closeMatch http://identifiers.org/snomedct/115227001 property_value: closeMatch http://identifiers.org/snomedct/154612003 property_value: closeMatch http://identifiers.org/snomedct/189018005 property_value: closeMatch http://identifiers.org/snomedct/189776008 property_value: closeMatch http://identifiers.org/snomedct/189785008 property_value: closeMatch http://identifiers.org/snomedct/254827004 property_value: closeMatch http://identifiers.org/snomedct/254830006 property_value: closeMatch http://identifiers.org/snomedct/46720004 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0346118 property_value: exactMatch DOID:3315 property_value: exactMatch DOID:3315 property_value: exactMatch http://identifiers.org/mesh/D008067 property_value: exactMatch http://identifiers.org/mesh/D008067 property_value: exactMatch http://identifiers.org/snomedct/93163002 property_value: exactMatch http://identifiers.org/snomedct/93163002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023798 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023798 property_value: exactMatch NCIT:C3192 property_value: exactMatch NCIT:C3192 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0000760 name: malignant peripheral nerve sheath tumor def: "An uncommon, highly aggressive malignant tumor, arising from the peripheral nerves and affecting mostly adults in their third to sixth decades of life. It usually occurs in medium-sized and large nerves of the buttock, thigh, upper arm, or the paraspinal region. It may be associated with neurofibromatosis 1 (NF1)." [] def: "Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma occurring in a wide range of anatomical sites." [Orphanet:3148] def: "Neoplasms which arise from nerve sheaths formed by SCHWANN CELLS in the PERIPHERAL NERVOUS SYSTEM or by OLIGODENDROCYTES in the CENTRAL NERVOUS SYSTEM. Malignant peripheral nerve sheath tumors, NEUROFIBROMA, and NEURILEMMOMA are relatively common tumors in this category." [] subset: ordo_disease {source="Orphanet:3148"} synonym: "Epithelioid MPNST" EXACT [] synonym: "Malig. periph. nerve sheath tum." EXACT [NCIT:C3798] synonym: "Malignant Neoplasm of Peripheral Nerve Sheath" EXACT [] synonym: "malignant neoplasm of peripheral nerve sheath" EXACT [NCIT:C3798] synonym: "malignant neoplasm of the peripheral nerve Sheath" EXACT [] synonym: "malignant neoplasm of the peripheral nerve sheath" EXACT [DOID:5940, NCIT:C3798] synonym: "Malignant Neurilemmoma" EXACT [] synonym: "malignant neurilemmoma" EXACT [NCIT:C3798, Orphanet:3148] synonym: "Malignant Neurilemoma" EXACT [] synonym: "malignant neurilemoma" EXACT [NCIT:C3798] synonym: "malignant neurofibroma" EXACT [Orphanet:3148] synonym: "Malignant Peripheral Nerve Sheath Neoplasm" EXACT [] synonym: "malignant peripheral nerve sheath neoplasm" EXACT [NCIT:C3798] synonym: "malignant peripheral nerve sheath tumor" EXACT [NCIT:C3798] synonym: "malignant peripheral nerve sheath tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "malignant peripheral nerve sheath tumor (disorder)" EXACT [] synonym: "Malignant peripheral nerve sheath tumor (morphologic abnormality)" EXACT [] synonym: "malignant peripheral nerve sheath tumor (morphologic abnormality)" EXACT [DOID:5940] synonym: "Malignant peripheral nerve sheath tumor [dup] (morphologic abnormality)" EXACT [] synonym: "malignant peripheral nerve sheath tumor [dup] (morphologic abnormality)" EXACT [DOID:5940] synonym: "Malignant Peripheral Nerve Sheath Tumors" EXACT [] synonym: "Malignant Peripheral Nerve Sheath Tumour" EXACT [] synonym: "malignant peripheral nerve sheath tumour (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "malignant peripheral nerve sheath tumour [dup] (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "Malignant Schwannoma" EXACT [] synonym: "malignant schwannoma" EXACT [NCIT:C3798, Orphanet:3148] synonym: "Malignant Tumor of Peripheral Nerve Sheath" EXACT [] synonym: "malignant tumor of peripheral nerve sheath" EXACT [NCIT:C3798] synonym: "Malignant Tumor of the Peripheral Nerve Sheath" EXACT [] synonym: "malignant tumor of the peripheral nerve sheath" EXACT [NCIT:C3798] synonym: "malignant tumour of peripheral nerve sheath" EXACT OMO:0003005 [] synonym: "malignant tumour of the peripheral nerve sheath" EXACT OMO:0003005 [] synonym: "Melanotic MPNST" EXACT [] synonym: "Melanotic psammomatous MPNST" EXACT [] synonym: "MPNST" EXACT ABBREVIATION [NCIT:C3798, Orphanet:3148] synonym: "MPNST - Malignant peripheral nerve sheath tumor" EXACT [] synonym: "MPNST - Malignant peripheral nerve sheath tumour" EXACT [] synonym: "MPNST with glandular differentiation" EXACT [] synonym: "MPNST with mesenchymal differentiation" EXACT [] synonym: "MPNSTs" EXACT [] synonym: "Neurofibrosarcoma" EXACT [] synonym: "neurofibrosarcoma" BROAD [NCIT:C3798, Orphanet:3148] synonym: "Neurofibrosarcoma [obs]" EXACT [] synonym: "neurofibrosarcoma, malignant" EXACT [NCIT:C3798] synonym: "Neurogenic sarcoma" EXACT [] synonym: "neurogenic sarcoma" EXACT [NCIT:C3798, Orphanet:3148] synonym: "Neurogenic sarcoma [obs]" EXACT [] synonym: "Neurosarcoma" EXACT [] synonym: "Neurosarcoma [obs]" EXACT [] synonym: "Perineurioma" EXACT [] synonym: "Perineuriomas" EXACT [] synonym: "Peripheral Nerve Sheath Tumors, Malignant" EXACT [] synonym: "schwannoma, malignant" EXACT [NCIT:C3798] xref: DOID:5940 {source="MONDO:equivalentTo"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9540/3 {source="NCIT:C3798"} xref: ICDO:9560/3 {source="NCIT:C3798"} xref: MedDRA:10026667 xref: MedDRA:10029236 {source="Orphanet:3148", source="Orphanet:3148/e"} xref: MeSH:D018317 xref: MeSH:D018319 xref: MONDO:0017827 xref: NCIT:C3798 {source="DOID:5940", source="MONDO:equivalentTo"} xref: NCIt:C3798 xref: ONCOTREE:MPNST {source="MONDO:equivalentTo"} xref: Orphanet:3148 {source="MONDO:equivalentTo"} xref: SCTID:404037002 {source="DOID:5940", source="MONDO:equivalentTo"} xref: SNOMEDCT:19897006 xref: SNOMEDCT:404037002 xref: UMLS:C0751690 {source="DOID:5940", source="Orphanet:3148", source="MONDO:equivalentTo", source="NCIT:C3798", source="Orphanet:3148/e"} is_a: MONDO:0002217 ! central nervous system sarcoma is_a: MONDO:0002547 {source="DOID:5940", source="NCIT:C3798", source="ONCOTREE:MPNST"} ! nerve sheath neoplasm is_a: MONDO:0016749 {source="Orphanet:3148"} ! tumor of cranial and spinal nerves is_a: MONDO:0021089 {source="MONDO:Redundant", source="NCIT:C3798"} ! peripheral nervous system cancer is_a: MONDO:0100342 ! malignant glioma property_value: closeMatch http://identifiers.org/meddra/10029236 property_value: exactMatch DOID:5940 property_value: exactMatch http://identifiers.org/snomedct/404037002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751690 property_value: exactMatch NCIT:C3798 property_value: exactMatch Orphanet:3148 property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000761 name: obsolete_normal comment: Up until version 2.56, EFO_0000761 had defined 'normal' as a disposition. Describing HPO phenotype utilizes 'normal' as a quality with PATO_0000461, thus the refactoring. property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.57" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "moving toward PATO quality space, use PATO_0000461 instead." xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PATO_0000461 [Term] id: EFO:0000762 name: hepatocellular adenoma def: "A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use." [NCIT:C3758] subset: ordo_disease {source="Orphanet:54272"} synonym: "adenoma of liver cells" EXACT [NCIT:C3758] synonym: "adenoma of the liver cells" EXACT [NCIT:C3758] synonym: "adenoma, hepatocellular, benign" EXACT [NCIT:C3758] synonym: "HCA" EXACT ABBREVIATION [NCIT:C3758] synonym: "hepatocellular adenoma" EXACT [NCIT:C3758] synonym: "hepatocellular adenoma" EXACT [] {comment="preferred label from MONDO"} synonym: "hepatocellular adenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "LIAD" RELATED ABBREVIATION [ONCOTREE:LIAD] synonym: "liver cell adenoma" EXACT [NCIT:C3758] xref: DOID:0050868 {source="MONDO:equivalentTo", source="EFO:0000762"} xref: EFO:0000762 {source="MONDO:equivalentTo"} xref: ICD10:D13.4 {source="ORDO:54272/ntbt", source="Orphanet:54272"} xref: ICDO:8170/0 {source="NCIT:C3758"} xref: MedDRA:10019827 {source="Orphanet:54272/e", source="Orphanet:54272"} xref: MedDRA:10019827 {source="ORDO:54272/e", source="Orphanet:54272"} xref: MESH:D018248 {source="MONDO:equivalentTo", source="ORDO:54272/e", source="Orphanet:54272"} xref: MESH:D018248 {source="Orphanet:54272/e", source="MONDO:equivalentTo", source="Orphanet:54272"} xref: MONDO:0018902 xref: NCIT:C3758 {source="MONDO:equivalentTo", source="EFO:0000762", source="MONDO:exact-label-match"} xref: NCIT:C3758 {source="MONDO:equivalentTo", source="EFO:0000762", source="exact-label-match"} xref: OMIM:114550 xref: OMIM:142330 xref: ONCOTREE:LIAD {source="MONDO:equivalentTo"} xref: Orphanet:54272 {source="MONDO:equivalentTo"} xref: UMLS:C0206669 {source="MONDO:equivalentTo", source="ORDO:54272/e", source="Orphanet:54272", source="NCIT:C3758"} xref: UMLS:C0206669 {source="Orphanet:54272/e", source="MONDO:equivalentTo", source="Orphanet:54272", source="NCIT:C3758"} is_a: EFO:0000232 {source="DOID:0050868", source="EFO:0000762", source="MESH:D018248", source="NCIT:C3758"} ! adenoma is_a: MONDO:0000385 {source="MONDO:Entailed"} ! benign digestive system neoplasm is_a: MONDO:0000627 ! benign endocrine neoplasm is_a: MONDO:0024477 {source="Orphanet:54272"} ! liver and intrahepatic bile duct neoplasm is_a: MONDO:0036976 ! benign epithelial neoplasm relationship: EFO:0000784 UBERON:0002107 ! has_disease_location liver relationship: has_characteristic MONDO:0021136 {source="MONDO:0017632"} ! rare property_value: closeMatch http://identifiers.org/meddra/10019827 property_value: closeMatch http://identifiers.org/snomedct/78058005 property_value: exactMatch DOID:0050868 property_value: exactMatch DOID:0050868 property_value: exactMatch http://identifiers.org/meddra/10019827 property_value: exactMatch http://identifiers.org/mesh/D018248 property_value: exactMatch http://identifiers.org/mesh/D018248 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206669 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206669 property_value: exactMatch NCIT:C3758 property_value: exactMatch NCIT:C3758 property_value: exactMatch Orphanet:54272 [Term] id: EFO:0000763 name: viral disease def: "A viral disease is a disease factor that is caused primarily by the infection or otherwise hosting of a virus." [] def: "Any disease caused by a virus." [NCIT:P378] synonym: "infection, viral" EXACT [NCIT:C3439] synonym: "infections, Viruses" RELATED [MONDO:patterns/infectious_disease_by_agent] synonym: "viral disease" EXACT [DOID:934, NCIT:C3439] synonym: "viral disorder" EXACT [NCIT:C3439] synonym: "viral infection" EXACT [DOID:934, NCIT:C3439] synonym: "viral infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "virus infection" EXACT [DOID:934] synonym: "Viruses caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Viruses disease or disorder" EXACT [] synonym: "Viruses infection" EXACT [MONDO:patterns/infectious_disease_by_agent] synonym: "Viruses infectious disease" EXACT [] xref: DOID:934 {source="EFO:0000763", source="MONDO:equivalentTo"} xref: ICD10:A08 xref: ICD10:A94 xref: ICD10:B34 xref: ICD9:060-066.99 {source="DOID:934"} xref: ICD9:066.9 {source="DOID:934"} xref: ICD9:078.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:079.99 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D014777 {source="DOID:934", source="MONDO:equivalentTo"} xref: MONDO:0005108 xref: NCIT:C3439 {source="DOID:934", source="MONDO:equivalentTo"} xref: SCTID:34014006 {source="DOID:934", source="EFO:0000763", source="MONDO:equivalentTo"} xref: SNOMEDCT:34014006 is_a: EFO:0005741 {source="DOID:934", source="EFO:0000763", source="MONDO:Redundant", source="NCIT:C3439"} ! infectious disease intersection_of: EFO:0000408 ! disease intersection_of: RO:0000057 NCBITaxon:10239 ! has_participant Virus relationship: RO:0000057 NCBITaxon:10239 ! has_participant Virus property_value: exactMatch DOID:934 property_value: exactMatch http://identifiers.org/mesh/D014777 property_value: exactMatch http://identifiers.org/snomedct/34014006 property_value: exactMatch NCIT:C3439 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000764 name: HIV infection def: "A Lentivirus infectious disease that results_in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has_symptom diarrhea, has_symptom fatigue, has_symptom fever, has_symptom vaginal yeast infection, has_symptom headache, has_symptom mouth sores, has_symptom muscle aches, has_symptom sore throat, and has_symptom swollen lymph glands." [] def: "An infection caused by the human immunodeficiency virus." [NCIT:P378] def: "Includes the spectrum of human immunodeficiency virus infections that range from asymptomatic seropositivity, thru AIDS-related complex (ARC), to acquired immunodeficiency syndrome (AIDS)." [] synonym: "[X]Human immunodeficiency virus disease" EXACT [] synonym: "[X]Human immunodeficiency virus disease (disorder)" EXACT [] synonym: "[X]Unspecified human immunodeficiency virus [HIV] disease" EXACT [] synonym: "[X]Unspecified human immunodeficiency virus [HIV] disease (disorder)" EXACT [] synonym: "HIV" EXACT [] synonym: "HIV - Human immunodeficiency virus infection" EXACT [] synonym: "HIV INFECT" EXACT [] synonym: "HIV Infection" EXACT [] synonym: "HIV infection" EXACT [DOID:526] synonym: "HIV Infections" EXACT [] synonym: "HIV infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "HTLV III INFECT" EXACT [] synonym: "HTLV III Infections" EXACT [] synonym: "HTLV III LAV INFECT" EXACT [] synonym: "HTLV III LAV Infections" EXACT [] synonym: "HTLV WIII INFECTIONS" EXACT [] synonym: "HTLV WIII LAV INFECTIONS" EXACT [] synonym: "HTLV-III Infection" EXACT [] synonym: "HTLV-III Infections" EXACT [] synonym: "HTLV-III-LAV Infection" EXACT [] synonym: "HTLV-III-LAV Infections" EXACT [] synonym: "HUMAN IMMUNO VIRUS DIS" EXACT [] synonym: "human immunodeficiency virus" EXACT [] synonym: "Human immunodeficiency virus [HIV] disease" EXACT [] synonym: "HUMAN IMMUNOdeficiency VIRUS [HIV] INFECTION" EXACT [] synonym: "Human immunodeficiency virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Human immunodeficiency virus disease" EXACT [] synonym: "Human immunodeficiency virus disease (disorder)" EXACT [] synonym: "Human immunodeficiency virus disease or disorder" EXACT [] synonym: "Human immunodeficiency virus infection" EXACT [] synonym: "Human immunodeficiency virus infection (disorder)" EXACT [] synonym: "Human immunodeficiency virus infection, NOS" EXACT [] synonym: "Human immunodeficiency virus infectious disease" EXACT [] synonym: "human immunodeficiency virus infectious disease" RELATED [DOID:526] synonym: "Infection, HIV" EXACT [] synonym: "Infection, HTLV-III" EXACT [] synonym: "Infection, HTLV-III-LAV" EXACT [] synonym: "Infections, HIV" EXACT [] synonym: "Infections, HTLV-III" EXACT [] synonym: "Infections, HTLV-III-LAV" EXACT [] synonym: "LYMPHOTROPIC VIRUS TYPE III INFECTIONS HUMAN T" EXACT [] synonym: "T LYMPHOTROPIC VIRUS TYPE III INFECT HUMAN" EXACT [] synonym: "T Lymphotropic Virus Type III Infections, Human" EXACT [] synonym: "T-Lymphotropic Virus Type III Infections, Human" EXACT [] synonym: "Unspecified human immunodeficiency virus [HIV] disease (disorder)" EXACT [] xref: DOID:526 {source="MONDO:equivalentTo", source="EFO:0000764"} xref: ICD10:B24 xref: ICD10CM:B20-B20 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="DOID:526", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:042 {source="DOID:526", source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0000764"} xref: ICD9:042-042.99 {source="DOID:526", source="EFO:0000764"} xref: MedDRA:10020161 xref: MESH:D015658 {source="DOID:526", source="MONDO:equivalentTo", source="EFO:0000764"} xref: MeSH:D015658 xref: MONDO:0005109 xref: NCIT:C3108 {source="DOID:526", source="MONDO:equivalentTo", source="EFO:0000764"} xref: NCIt:C3108 xref: SCTID:86406008 {source="DOID:526", source="MONDO:equivalentTo", source="EFO:0000764"} xref: SNOMEDCT:19030005 xref: SNOMEDCT:72621000119104 xref: SNOMEDCT:86406008 xref: UMLS:C0019693 {source="DOID:526", source="MONDO:equivalentTo", source="NCIT:C3108"} is_a: EFO:1001357 ! Lentivirus Infections is_a: MONDO:0021682 {source="MESH:D015658"} ! viral sexually transmitted disease property_value: exactMatch DOID:526 property_value: exactMatch http://identifiers.org/mesh/D015658 property_value: exactMatch http://identifiers.org/snomedct/86406008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019693 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B20-B20 property_value: exactMatch NCIT:C3108 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000765 name: AIDS def: "A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per µL of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS." [] def: "A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin's lymphoma and Kaposi's sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood. -- 2004" [] def: "A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin lymphoma and Kaposi sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood." [NCIT:P378] def: "A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin&apos;s lymphoma and Kaposi&apos;s sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood." [] def: "A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin's lymphoma and Kaposi's sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood." [] def: "Acquired immunodeficiency syndrome is a HIV infection consisting of a disease of the human immune system that is characterized cytologically especially by a reduction in the numbers of CD4-bearing helper T cells to 20 percent or less of normal thereby rendering the subject highly vulnerable to life-threatening conditions (as Pneumocystis carinii pneumonia) and to some that become life threatening (as Kaposi's sarcoma) and that is caused by infection with HIV commonly transmitted in infected blood especially during illicit intravenous drug use and in bodily secretions (as semen) during sexual intercourse." [] def: "An acquired defect of cellular immunity associated with infection by the human immunodeficiency virus (HIV), a CD4-positive T-lymphocyte count under 200 cells/microliter or less than 14% of total lymphocytes, and increased susceptibility to opportunistic infections and malignant neoplasms. Clinical manifestations also include emaciation (wasting) and dementia. These elements reflect criteria for AIDS as defined by the CDC in 1993." [] def: "An HIV infectious disease that is a characterized cytologically by a reduction in the numbers of CD4-bearing helper T cells to 20 percent or less of normal thereby rendering the subject highly vulnerable to life-threatening conditions (as Pneumocystis carinii pneumonia) and to some that become life threatening (as Kaposi's sarcoma) and that is caused by infection with HIV commonly transmitted in infected blood especially during illicit intravenous drug use and in bodily secretions (as semen) during sexual intercourse." [] synonym: "Acquired human immunodeficiency virus infection syndrome NOS" EXACT [] synonym: "acquired human immunodeficiency virus infection syndrome NOS (disorder)" EXACT [] synonym: "ACQUIRED IMMUNE DEFIC SYNDROME" EXACT [] synonym: "Acquired immune defic. syndr." EXACT [] synonym: "acquired Immune deficiency" EXACT [] synonym: "acquired immune deficiency" EXACT [DOID:635, NCIT:C2851] synonym: "acquired immune deficiency syndrome" EXACT [] synonym: "acquired immune deficiency syndrome" RELATED [DOID:635] synonym: "Acquired immune deficiency syndrome (AIDS)" EXACT [] synonym: "Acquired immune deficiency syndrome (AIDS) (disorder)" EXACT [] synonym: "Acquired immune deficiency syndrome, NOS" EXACT [] synonym: "acquired immunedeficiency syndrome" EXACT [] synonym: "ACQUIRED IMMUNO DEFIC SYNDROME" EXACT [] synonym: "Acquired Immuno Deficiency Syndrome" EXACT [] synonym: "Acquired Immuno-Deficiency Syndrome" EXACT [] synonym: "Acquired Immuno-Deficiency Syndromes" EXACT [] synonym: "ACQUIRED IMMUNODEFIC SYNDROME" EXACT [] synonym: "acquired immunodeficiency disease" EXACT [NCIT:C2851] synonym: "Acquired immunodeficiency syndrome" EXACT [] synonym: "acquired immunodeficiency syndrome" RELATED [DOID:635] synonym: "ACQUIRED IMMUNODEFICIENCY SYNDROME, AIDS" EXACT [] synonym: "acquired immunodeficiency syndrome, AIDS" EXACT [NCIT:C2851] synonym: "Acquired immunodeficiency syndrome, NOS" EXACT [] synonym: "Acquired Immunodeficiency Syndromes" EXACT [] synonym: "AIDS" EXACT ABBREVIATION [DOID:635] synonym: "AIDS" EXACT [] {comment="preferred label from MONDO"} synonym: "AIDS (disorder)" EXACT [] synonym: "AIDS - Acquired immunodeficiency syndrome" EXACT [] synonym: "AIDS, ACQUIRED IMMUNODEFICIENCY SYNDROME" EXACT [] synonym: "AIDS, acquired immunodeficiency syndrome" EXACT [NCIT:C2851] synonym: "AIDS, NOS" EXACT [] synonym: "Immuno-Deficiency Syndrome, Acquired" EXACT [] synonym: "Immuno-Deficiency Syndromes, Acquired" EXACT [] synonym: "IMMUNODEFIC SYNDROME ACQUIRED" EXACT [] synonym: "Immunodeficiency due to human immunodeficiency virus infection" EXACT [] synonym: "Immunodeficiency Syndrome, Acquired" EXACT [] synonym: "Immunodeficiency Syndromes, Acquired" EXACT [] synonym: "IMMUNOL DEFIC SYNDROME ACQUIRED" EXACT [] synonym: "Immunologic Deficiency Syndrome, Acquired" EXACT [] synonym: "Syndrome, Acquired Immuno-Deficiency" EXACT [] synonym: "Syndrome, Acquired Immunodeficiency" EXACT [] synonym: "Syndromes, Acquired Immuno-Deficiency" EXACT [] synonym: "Syndromes, Acquired Immunodeficiency" EXACT [] xref: DOID:635 {source="MONDO:equivalentTo", source="EFO:0000765"} xref: ICD10:B20 xref: MedDRA:10001509 xref: MESH:D000163 {source="DOID:635", source="MONDO:equivalentTo", source="EFO:0000765"} xref: MeSH:D000163 xref: MONDO:0012268 xref: NCIT:C2851 {source="DOID:635", source="MONDO:equivalentTo", source="EFO:0000765"} xref: NCIt:C2851 xref: SCTID:62479008 {source="DOID:635", source="MONDO:equivalentTo", source="EFO:0000765"} xref: SNOMEDCT:62479008 is_a: EFO:0000764 {source="DOID:635", source="EFO:0000765", source="MESH:D000163", source="MONDO:Redundant"} ! HIV infection is_a: MONDO:0003780 {source="NCIT:C2851"} ! T-cell immunodeficiency property_value: exactMatch DOID:635 property_value: exactMatch http://identifiers.org/mesh/D000163 property_value: exactMatch http://identifiers.org/snomedct/62479008 property_value: exactMatch NCIT:C2851 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000766 name: obsolete_hereditary leiomyomatosis and renal cell cancer synonym: "hereditary leiomyomatosis and renal cell cancer syndrome" EXACT [] synonym: "Hereditary Leiomyomatosis and Renal Cell Carcinoma" EXACT [] synonym: "HLRCC" EXACT [] xref: NCIt:C51302 xref: OMIM:605839 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_523' instead.\nNew Label : Familial leiomyomatosis" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_523 [Term] id: EFO:0000767 name: idiopathic cardiomyopathy def: "A disease of the heart muscle or myocardium proper whose cause is unknown." [NCIT:C53654] synonym: "idiopathic cardiomyopathy" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0005110 xref: NCIT:C53654 {source="MONDO:equivalentTo", source="EFO:0000767"} xref: NCIt:C53654 is_a: EFO:0000318 {source="EFO:0000767", source="NCIT:C53654"} ! cardiomyopathy is_a: MONDO:0700007 ! idiopathic disease intersection_of: EFO:0000318 ! cardiomyopathy intersection_of: has_characteristic MONDO:0700005 ! idiopathic property_value: exactMatch NCIT:C53654 property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000768 name: idiopathic pulmonary fibrosis def: "Idiopathic pulmonary fibrosis (IPF) is a nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause." [Orphanet:2032] subset: gard_rare {source="GARD:0008609"} subset: ordo_disease {source="Orphanet:2032"} synonym: "CFA" EXACT ABBREVIATION [Orphanet:2032] synonym: "cryptogenic fibrosing alveolitis" EXACT [DOID:0050156, Orphanet:2032] synonym: "familial idiopathic pulmonary fibrosis" RELATED [GARD:0008609] synonym: "fibrocystic pulmonary dysplasia" EXACT [DOID:0050156, OMIM:178500] synonym: "fibrosing alveolitis" RELATED [GARD:0008609] synonym: "fibrosing alveolitis, cryptogenic" RELATED [OMIM:178500] synonym: "Hamman-rich disease" RELATED [OMIM:178500] synonym: "idiopathic pulmonary fibrosis" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "idiopathic pulmonary fibrosis, familial" EXACT [DOID:0050156, OMIM:178500] synonym: "interstitial pneumonitis, usual" RELATED [OMIM:178500] synonym: "IPF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:178500] synonym: "pulmonary fibrosis, idiopathic" RELATED [MONDO:Lexical, OMIM:178500] synonym: "UIP" EXACT ABBREVIATION [Orphanet:2032] synonym: "usual interstitial pneumonia" EXACT [Orphanet:2032] xref: COHD:45763750 {source="MONDO:equivalentTo"} xref: DOID:0050156 {source="MONDO:equivalentTo", source="EFO:0000768"} xref: EFO:0000768 {source="DOID:0050156", source="MONDO:equivalentTo"} xref: GARD:0008609 {source="MONDO:equivalentTo"} xref: ICD10:J84.1 {source="ORDO:2032/ntbt", source="Orphanet:2032"} xref: ICD10:J84.112 {source="DOID:0050156", source="MONDO:equivalentTo"} xref: ICD9:516.31 {source="DOID:0050156", source="EFO:0000768"} xref: MedDRA:10021240 {source="Orphanet:2032", source="ORDO:2032/e"} xref: MESH:D054990 {source="DOID:0050156", source="MONDO:equivalentTo", source="EFO:0000768", source="Orphanet:2032", source="ORDO:2032/e"} xref: NCIT:C35716 {source="DOID:0050156", source="MONDO:equivalentTo", source="EFO:0000768"} xref: OMIM:178500 {source="DOID:0050156", source="MONDO:equivalentTo", source="EFO:0000768", source="Orphanet:2032", source="ORDO:2032/e"} xref: Orphanet:2032 {source="MONDO:equivalentTo", source="OMIM:178500"} xref: SCTID:196125002 {source="DOID:0050156", source="MONDO:equivalentTo"} is_a: EFO:0009448 ! pulmonary fibrosis relationship: EFO:0000784 UBERON:0002048 ! has_disease_location lung property_value: closeMatch http://identifiers.org/snomedct/233721005 property_value: closeMatch http://identifiers.org/snomedct/237121003 property_value: closeMatch http://identifiers.org/snomedct/28168000 property_value: closeMatch http://identifiers.org/snomedct/426437004 property_value: closeMatch http://identifiers.org/snomedct/700250006 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1800706 property_value: closeMatch NCIT:C35715 property_value: exactMatch DOID:0050156 property_value: exactMatch http://identifiers.org/meddra/10021240 property_value: exactMatch http://identifiers.org/mesh/D054990 property_value: exactMatch http://identifiers.org/omim/178500 property_value: exactMatch http://identifiers.org/snomedct/196125002 property_value: exactMatch NCIT:C35716 property_value: gwas:trait "true" xsd:boolean property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8609/idiopathic-pulmonary-fibrosis xsd:anyURI {source="GARD:0008609"} [Term] id: EFO:0000769 name: Epstein-Barr virus infection def: "A Herpesviridae infectious disease that results_in infection, has_agent Human herpesvirus 4, which is transmitted_by contact with the saliva." [] def: "An infection that is caused by Epstein-Barr virus." [NCIT:P378] def: "Infection with human herpesvirus 4 (HERPESVIRUS 4, HUMAN); which may facilitate the development of various lymphoproliferative disorders. These include BURKITT LYMPHOMA (African type), INFECTIOUS MONONUCLEOSIS, and oral hairy leukoplakia (LEUKOPLAKIA, HAIRY)." [] synonym: "EBV INFECT" EXACT [] synonym: "EBV Infection" EXACT [] synonym: "EBV infection" EXACT [MESH:D020031, NCIT:C38759] synonym: "EBV Infections" EXACT [] synonym: "EBV infections" RELATED [MESH:D020031] synonym: "EPSTEIN BARR VIRUS INFECT" EXACT [] synonym: "Epstein Barr Virus Infections" EXACT [] synonym: "Epstein Barr Virus infections" RELATED [MESH:D020031] synonym: "Epstein-Barr Virus infection" EXACT [NCIT:C38759] synonym: "Epstein-Barr virus infection" EXACT [] {comment="preferred label from MONDO"} synonym: "Epstein-Barr virus infection (disorder)" EXACT [] synonym: "Epstein-Barr Virus Infections" EXACT [] synonym: "Epstein-Barr virus infectious disease" EXACT [] synonym: "HERPESVIRUS 4 INFECT HUMAN" EXACT [] synonym: "Herpesvirus 4 Infections, Human" EXACT [] synonym: "Herpesvirus 4 infections, Human" RELATED [MESH:D020031] synonym: "Human gammaherpesvirus 4 caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Human gammaherpesvirus 4 disease or disorder" EXACT [] synonym: "Human gammaherpesvirus 4 infectious disease" EXACT [] synonym: "HUMAN HERPES VIRUS 4 INFECT" EXACT [] synonym: "Human Herpes Virus 4 Infections" EXACT [] synonym: "Human Herpes Virus 4 infections" RELATED [MESH:D020031] synonym: "HUMAN HERPESVIRUS 4 INFECT" EXACT [] synonym: "Human Herpesvirus 4 Infections" EXACT [] synonym: "Human Herpesvirus 4 infections" RELATED [MESH:D020031] synonym: "INFECT EBV" EXACT [] synonym: "INFECT EPSTEIN BARR VIRUS" EXACT [] synonym: "Infections, EBV" EXACT [] synonym: "infections, EBV" RELATED [MESH:D020031] synonym: "Infections, Epstein-Barr Virus" EXACT [] synonym: "infections, Epstein-Barr Virus" RELATED [MESH:D020031] synonym: "Tumor Virus Infections" EXACT [] synonym: "Virus Infections, Epstein-Barr" EXACT [] synonym: "Virus infections, Epstein-Barr" RELATED [MESH:D020031] xref: MedDRA:10015108 xref: MESH:D020031 {source="MONDO:equivalentTo", source="EFO:0000769"} xref: MeSH:D020031 xref: MONDO:0005111 xref: NCIT:C38759 {source="MONDO:equivalentTo", source="EFO:0000769"} xref: NCIt:C38759 xref: UMLS:C0149678 {source="MONDO:equivalentTo", source="NCIT:C38759"} is_a: EFO:0007309 ! Herpesviridae infectious disease relationship: RO:0000057 NCBITaxon:10376 ! has_participant Human herpesvirus 4 property_value: exactMatch http://identifiers.org/mesh/D020031 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149678 property_value: exactMatch NCIT:C38759 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000770 name: malignant pleural mesothelioma def: "A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive." [NCIT:C7376] synonym: "malignant mesothelioma of pleura" EXACT [DOID:7474, NCIT:C7376] synonym: "malignant mesothelioma of the pleura" EXACT [NCIT:C7376] synonym: "malignant pleural mesothelioma" EXACT [] {comment="preferred label from MONDO"} synonym: "malignant pleural mesothelioma" EXACT [NCIT:C7376] synonym: "malignant pleural mesothelioma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "MPM" EXACT [] synonym: "pleura mesothelioma" BROAD [MONDO:patterns/location] synonym: "pleura mesothelioma" EXACT [MONDO:patterns/location] synonym: "pleural diffuse malignant mesothelioma" EXACT [NCIT:C7376] synonym: "pleural malignant mesothelioma" EXACT [NCIT:C7376] xref: COHD:4111917 {source="MONDO:equivalentTo"} xref: DOID:7474 {source="EFO:0000770", source="MONDO:equivalentTo"} xref: EFO:0000770 {source="MONDO:equivalentTo"} xref: ICD10:C45.0 {source="DOID:7474"} xref: MONDO:0005112 xref: NCIT:C7376 {source="EFO:0000770", source="MONDO:equivalentTo", source="DOID:7474"} xref: SCTID:254645002 {source="EFO:0000770", source="MONDO:equivalentTo", source="DOID:7474"} xref: UMLS:C0812413 {source="NCIT:C7376", source="MONDO:equivalentTo", source="DOID:7474"} is_a: EFO:1000355 {source="DOID:7474", source="MONDO:Redundant", source="NCIT:C7376"} ! Malignant Mesothelioma is_a: EFO:1000362 {source="DOID:7474", source="MONDO:Redundant", source="NCIT:C7376"} ! Malignant Pleural Neoplasm is_a: EFO:1000485 {source="MONDO:Redundant", source="NCIT:C7376"} ! Pleural Mesothelioma relationship: EFO:0000784 UBERON:0000977 ! has_disease_location pleura property_value: closeMatch http://identifiers.org/snomedct/109373004 property_value: closeMatch http://identifiers.org/snomedct/187878009 property_value: exactMatch DOID:7474 property_value: exactMatch DOID:7474 property_value: exactMatch http://identifiers.org/snomedct/254645002 property_value: exactMatch http://identifiers.org/snomedct/254645002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0812413 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0812413 property_value: exactMatch NCIT:C7376 property_value: exactMatch NCIT:C7376 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0000771 name: bacterial disease def: "A bacterial disease is a disease factor that is caused primarily by bacteria." [] def: "An acute infectious disorder that is caused by gram positive or gram negative bacteria; representative examples include pneumococcal, streptococcal, salmonella, and meningeal infections." [NCIT:C2890] synonym: "Bacteria caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Bacteria disease or disorder" EXACT [] synonym: "Bacteria infectious disease" EXACT [] synonym: "bacterial disease" EXACT [NCIT:C2890] synonym: "bacterial disorder" EXACT [NCIT:C2890] synonym: "bacterial infection" EXACT [MESH:D001424, NCIT:C2890] synonym: "bacterial infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "bacterial infectious disease" EXACT [MONDO:0001026] synonym: "infection, bacterial" EXACT [MESH:D001424, NCIT:C2890] synonym: "infections, bacterial" RELATED [MESH:D001424] xref: DOID:104 {source="MONDO:equivalentTo"} xref: ICD10:A04 xref: ICD9:040.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:041.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:041.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D001424 {source="DOID:104", source="MONDO:equivalentTo"} xref: MONDO:0005113 xref: NCIT:C2890 {source="DOID:104", source="MONDO:equivalentTo"} xref: SCTID:87628006 {source="DOID:104", source="MONDO:equivalentTo"} xref: UMLS:C0004623 {source="DOID:104", source="NCIT:C2890", source="MONDO:equivalentTo"} is_a: EFO:0005741 {source="DOID:104", source="EFO:0000771", source="MONDO:Redundant", source="NCIT:C2890"} ! infectious disease intersection_of: EFO:0000408 ! disease intersection_of: RO:0000057 NCBITaxon:2 ! has_participant Bacteria relationship: RO:0000057 NCBITaxon:2 ! has_participant Bacteria property_value: exactMatch DOID:104 property_value: exactMatch http://identifiers.org/mesh/D001424 property_value: exactMatch http://identifiers.org/snomedct/87628006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004623 property_value: exactMatch NCIT:C2890 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000772 name: pneumococcal infection def: "Infections with bacteria of the species STREPTOCOCCUS PNEUMONIAE." [] def: "Infections with bacteria of the species streptococcus pneumoniae." [MESH:D011008] synonym: "INFECT PNEUMOCOCCAL" EXACT [] synonym: "INFECT STREP PNEUMONIAE" EXACT [] synonym: "Infection, Pneumococcal" EXACT [] synonym: "infection, pneumococcal" RELATED [MESH:D011008] synonym: "Infection, Streptococcus pneumoniae" EXACT [] synonym: "infection, Streptococcus pneumoniae" RELATED [MESH:D011008] synonym: "Infections, Pneumococcal" EXACT [] synonym: "infections, pneumococcal" RELATED [MESH:D011008] synonym: "Infections, Streptococcus pneumoniae" EXACT [] synonym: "infections, Streptococcus pneumoniae" RELATED [MESH:D011008] synonym: "PNEUMOCOCCAL INFECT" EXACT [] synonym: "pneumococcal infection" EXACT [] {comment="preferred label from MONDO"} synonym: "pneumococcal infection" EXACT [MESH:D011008] synonym: "Pneumococcal infection, NOS" EXACT [] synonym: "Pneumococcal Infections" EXACT [] synonym: "pneumococcal infectious disease" EXACT [] synonym: "Pneumococcal infectious disease (disorder)" EXACT [] synonym: "Pneumococcal infectious disease, NOS" EXACT [] synonym: "pneumoniae Infection, Streptococcus" EXACT [] synonym: "pneumoniae infection, Streptococcus" RELATED [MESH:D011008] synonym: "pneumoniae Infections, Streptococcus" EXACT [] synonym: "pneumoniae infections, Streptococcus" RELATED [MESH:D011008] synonym: "STREP PNEUMONIAE INFECT" EXACT [] synonym: "Streptococcus pneumoniae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Streptococcus pneumoniae disease or disorder" EXACT [] synonym: "Streptococcus pneumoniae Infection" EXACT [] synonym: "Streptococcus pneumoniae infection" RELATED [MESH:D011008] synonym: "Streptococcus pneumoniae Infections" EXACT [] synonym: "Streptococcus pneumoniae infections" RELATED [MESH:D011008] synonym: "Streptococcus pneumoniae infectious disease" EXACT [] xref: ICD10:J13 xref: ICD9:041.2 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10061353 xref: MESH:D011008 {source="EFO:0000772", source="MONDO:equivalentTo"} xref: MeSH:D011008 xref: MONDO:0005114 xref: SCTID:16814004 {source="EFO:0000772", source="MONDO:equivalentTo"} xref: SNOMEDCT:16814004 xref: UMLS:C0032269 {source="MONDO:equivalentTo"} is_a: EFO:1001476 {source="MESH:D011008", source="MONDO:Redundant"} ! streptococcal infection relationship: RO:0000057 NCBITaxon:1313 ! has_participant Streptococcus pneumoniae property_value: exactMatch http://identifiers.org/mesh/D011008 property_value: exactMatch http://identifiers.org/snomedct/16814004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032269 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000773 name: temporal lobe epilepsy def: "A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see EPILEPSY, COMPLEX PARTIAL) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion) (MeSH)." [] def: "A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see EPILEPSY, COMPLEX PARTIAL) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)" [] def: "A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see epilepsy, complex partial) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)" [MESH:D004833] synonym: "Benign Psychomotor Epilepsy, Childhood" EXACT [] synonym: "Childhood Benign Psychomotor Epilepsy" EXACT [] synonym: "Epilepsies, Lateral Temporal" EXACT [] synonym: "Epilepsies, Temporal Lobe" EXACT [] synonym: "Epilepsies, Uncinate" EXACT [] synonym: "epilepsy of temporal lobe" EXACT [MONDO:design_pattern] synonym: "Epilepsy, Benign Psychomotor, Childhood" EXACT [] synonym: "epilepsy, familial temporal lobe" RELATED [OMIMPS:600512] synonym: "Epilepsy, Lateral Temporal" EXACT [] synonym: "epilepsy, temporal lobe" EXACT [DOID:3328] synonym: "Epilepsy, Uncinate" EXACT [] synonym: "Lateral Temporal Epilepsies" EXACT [] synonym: "Lateral Temporal Epilepsy" EXACT [] synonym: "Psychomotor seizure" EXACT [] synonym: "Temporal Lobe Epilepsies" EXACT [] synonym: "temporal lobe epilepsy" EXACT [] {comment="preferred label from MONDO"} synonym: "temporal lobe epilepsy" EXACT [MONDO:patterns/location] synonym: "Temporal lobe epilepsy (disorder)" EXACT [] synonym: "Temporal lobe epilepsy (disorder) [Ambiguous]" EXACT [] synonym: "TLE" EXACT [] synonym: "TLE - Temporal lobe epilepsy" EXACT [] synonym: "Uncinate Epilepsies" EXACT [] synonym: "Uncinate Epilepsy" EXACT [] xref: DOID:3328 {source="MONDO:equivalentTo", source="EFO:0000773"} xref: MedDRA:10043209 xref: MESH:D004833 {source="MONDO:equivalentTo", source="EFO:0000773", source="DOID:3328"} xref: MeSH:D004833 xref: MONDO:0005115 xref: NCIT:C177244 {source="MONDO:equivalentTo"} xref: NIFSTD:birnlex_12733 {source="EFO:0000773"} xref: OMIM:616436 xref: OMIM:616461 xref: OMIMPS:600512 {source="MONDO:equivalentTo"} xref: SCTID:193000002 {source="MONDO:relatedTo", source="EFO:0000773", source="DOID:3328"} xref: SCTID:783739005 {source="MONDO:equivalentTo"} xref: SNOMEDCT:193000002 xref: UMLS:C0014556 {source="MONDO:relatedTo", source="DOID:3328"} xref: UMLS:C1842564 {source="MONDO:equivalentTo"} is_a: MONDO:0017704 ! familial partial epilepsy property_value: exactMatch DOID:3328 property_value: exactMatch http://identifiers.org/mesh/D004833 property_value: exactMatch http://identifiers.org/snomedct/783739005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842564 property_value: exactMatch https://omim.org/phenotypicSeries/PS600512 property_value: exactMatch NCIT:C177244 property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: relatedMatch http://identifiers.org/snomedct/193000002 property_value: relatedMatch http://linkedlifedata.com/resource/umls/id/C0014556 [Term] id: EFO:0000774 name: obsolete_tuberculosis def: "A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis. Tuberculosis (TB) may affect almost any tissue or organ of the body with the lungs being the most common site of infection. The clinical stages of TB are primary or initial infection, latent or dormant infection, and recrudescent or adult-type TB. Ninety to 95% of primary TB infections may go unrecognized. Histopathologically, tissue lesions consist of granulomas which usually undergo central caseation necrosis. Local symptoms of TB vary according to the part affected; acute symptoms include hectic fever, sweats, and emaciation; serious complications include granulomatous erosion of pulmonary bronchi associated with hemoptysis. If untreated, progressive TB may be associated with a high degree of mortality. This infection is frequently observed in immunocompromised individuals with AIDS or a history of illicit IV drug use. --2004" [] def: "Any of the infectious diseases of man and other animals caused by species of MYCOBACTERIUM." [] synonym: "[X]Tuberculosis of other specified organs" EXACT [] synonym: "[X]Tuberculosis of other specified organs (disorder)" EXACT [] synonym: "Disease, Koch's" EXACT [] synonym: "Disease, Kochs" EXACT [] synonym: "Infection due to Mycobacterium tuberculosis" EXACT [] synonym: "Infection due to Mycobacterium tuberculosis (disorder)" EXACT [] synonym: "Koch Disease" EXACT [] synonym: "Koch's Disease" EXACT [] synonym: "Kochs Disease" EXACT [] synonym: "MTB - Mycobacterium tuberculosis infection" EXACT [] synonym: "Mycobacterium tuberculosis infection" EXACT [] synonym: "TB" EXACT [] synonym: "TB - Tuberculosis" EXACT [] synonym: "TB OF ORGAN NEC-CULT DX" EXACT [] synonym: "TB OF ORGAN NEC-HISTO DX" EXACT [] synonym: "TB OF ORGAN NEC-MICRO DX" EXACT [] synonym: "TB OF ORGAN NEC-NO EXAM" EXACT [] synonym: "TB OF ORGAN NEC-OTH TEST" EXACT [] synonym: "TB OF ORGAN NEC-UNSPEC" EXACT [] synonym: "TB ORGAN NEC-EXAM UNKN" EXACT [] synonym: "tuberculoma" EXACT [] synonym: "Tuberculoma (finding)" EXACT [] synonym: "Tuberculoses" EXACT [] synonym: "Tuberculosis (disorder)" EXACT [] synonym: "Tuberculosis NOS" EXACT [] synonym: "Tuberculosis NOS (disorder)" EXACT [] synonym: "Tuberculosis of mother, with delivery" EXACT [] synonym: "Tuberculosis of other organs" EXACT [] synonym: "Tuberculosis of other organs (disorder)" EXACT [] synonym: "Tuberculosis of other organs NOS" EXACT [] synonym: "Tuberculosis of other organs NOS (disorder)" EXACT [] synonym: "Tuberculosis of other specified organs" EXACT [] synonym: "Tuberculosis of other specified organs (disorder)" EXACT [] synonym: "Tuberculosis of other specified organs NOS" EXACT [] synonym: "Tuberculosis of other specified organs NOS (disorder)" EXACT [] synonym: "Tuberculosis of other specified organs, bacteriological or histological examination not done" EXACT [] synonym: "Tuberculosis of other specified organs, bacteriological or histological examination unknown (at present)" EXACT [] synonym: "Tuberculosis of other specified organs, tubercle bacilli found (in sputum) by microscopy" EXACT [] synonym: "Tuberculosis of other specified organs, tubercle bacilli not found (in sputum) by microscopy, but found by bacterial culture" EXACT [] synonym: "Tuberculosis of other specified organs, tubercle bacilli not found by bacteriological examination, but tuberculosis confirmed histologically" EXACT [] synonym: "Tuberculosis of other specified organs, tubercle bacilli not found by bacteriological or histological examination, but tuberculosis confirmed by other methods [inoculation of animals]" EXACT [] synonym: "Tuberculosis of other specified organs, unspecified examination" EXACT [] synonym: "Tuberculosis pregnancy" EXACT [] synonym: "Tuberculosis, antepartum" EXACT [] synonym: "Tuberculosis, NOS" EXACT [] synonym: "Tuberculosis, postpartum" EXACT [] synonym: "Tuberculous" EXACT [] synonym: "Tuberculous (qualifier value)" EXACT [] synonym: "tuberculous abscess" EXACT [] xref: DOID:399 xref: ICD9:010-018.99 xref: ICD9:017 xref: ICD9:017.9 xref: ICD9:017.90 xref: ICD9:017.91 xref: ICD9:017.92 xref: ICD9:017.93 xref: ICD9:017.94 xref: ICD9:017.95 xref: ICD9:017.96 xref: MeSH:D014376 xref: NCIt:C3423 xref: SNOMEDCT:186247008 xref: SNOMEDCT:186271001 xref: SNOMEDCT:186274009 xref: SNOMEDCT:186275005 xref: SNOMEDCT:186282009 xref: SNOMEDCT:187292005 xref: SNOMEDCT:371569005 xref: SNOMEDCT:373576009 xref: SNOMEDCT:56717001 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_3389' instead.\nNew Label : Tuberculosis" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_3389 [Term] id: EFO:0000775 name: Whipple's disease def: "A chronic systemic infection by a gram-positive bacterium, Tropheryma whippelii, mainly affecting the SMALL INTESTINE but also the JOINTS; CARDIOVASCULAR SYSTEM; and the CENTRAL NERVOUS SYSTEM. The disease is characterized by fat deposits in the INTESTINAL MUCOSA and LYMPH NODES, malabsorption, DIARRHEA with fatty stools, MALNUTRITION, and ARTHRITIS." [] def: "A systemic infection caused by the Gram-positive bacterium Tropheryma whipplei. It affects the small intestine resulting in malabsorption. Other sites or systems affected by the infection are the joints, central nervous system, and the cardiovascular system." [NCIT:P378] subset: ordo_disease {source="Orphanet:3452"} synonym: "Disease, Whipple" EXACT [] synonym: "Disease, Whipple's" EXACT [] synonym: "Intestinal lipodystrophy" EXACT [] synonym: "intestinal lipodystrophy" EXACT [DOID:8476, Orphanet:3452] synonym: "intestinal lipophagic granulomatosis" EXACT [Orphanet:3452] synonym: "Intestinal Whipple's disease" EXACT [] synonym: "Lipodystrophy, Intestinal" EXACT [] synonym: "secondary non-tropical sprue" EXACT [Orphanet:3452] synonym: "Tropheryma whippelii infection" RELATED [GARD:0007889] synonym: "Tropheryma whipplei caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Tropheryma whipplei disease or disorder" EXACT [] synonym: "Tropheryma whipplei infectious disease" EXACT [] synonym: "WD - Whipple's disease" EXACT [] synonym: "WHIPPLE DIS" EXACT [] synonym: "Whipple Disease" EXACT [] synonym: "Whipple disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Whipple disease" EXACT [MONDO:0018099] synonym: "Whipple's disease" RELATED [DOID:8476, ICD9CM:040.2] synonym: "Whipple's disease (disorder)" EXACT [] synonym: "WHIPPLES DIS" EXACT [] synonym: "Whipples Disease" EXACT [] xref: DOID:8476 {source="MONDO:equivalentTo", source="EFO:0000775"} xref: ICD10CM:K90.81 {source="MONDO:equivalentTo", source="DOID:8476"} xref: ICD10EXP:K90.8+ {source="Orphanet:3452", source="Orphanet:3452/ntbt"} xref: ICD10EXP:M14.8* {source="Orphanet:3452", source="Orphanet:3452/ntbt"} xref: ICD9:040.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0000775", source="DOID:8476"} xref: MedDRA:10047931 {source="Orphanet:3452", source="Orphanet:3452/e"} xref: MESH:D008061 {source="Orphanet:3452", source="MONDO:equivalentTo", source="Orphanet:3452/e", source="EFO:0000775", source="DOID:8476"} xref: MeSH:D008061 xref: MONDO:0005116 xref: NCIT:C85228 {source="MONDO:equivalentTo", source="EFO:0000775", source="DOID:8476"} xref: NCIt:C85228 xref: Orphanet:3452 {source="MONDO:equivalentTo"} xref: SCTID:41545003 {source="MONDO:equivalentTo", source="EFO:0000775", source="DOID:8476"} xref: SNOMEDCT:41545003 xref: UMLS:C0023788 {source="NCIT:C85228", source="Orphanet:3452", source="MONDO:equivalentTo", source="Orphanet:3452/e", source="DOID:8476"} xref: UMLS:C2930851 {source="Orphanet:3452", source="MONDO:equivalentTo", source="Orphanet:3452/e"} xref: UMLS:CN204440 {source="MONDO:equivalentTo"} is_a: EFO:0000771 {source="EFO:0000775", source="MESH:D008061/inferred", source="MONDO:Redundant", source="NCIT:C85228", source="Orphanet:3452"} ! bacterial disease is_a: EFO:0009431 {source="DOID:8476", source="MESH:D008061/inferred", source="MONDO:Redundant", source="Orphanet:3452"} ! intestinal disease is_a: MONDO:0043424 ! digestive system infectious disorder relationship: EFO:0000784 UBERON:0001007 ! has_disease_location digestive system relationship: has_characteristic MONDO:0021136 {source="MONDO:0015245", source="MONDO:0015575"} ! rare property_value: closeMatch http://identifiers.org/meddra/10047931 property_value: exactMatch DOID:8476 property_value: exactMatch http://identifiers.org/mesh/D008061 property_value: exactMatch http://identifiers.org/snomedct/41545003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023788 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930851 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204440 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K90.81 property_value: exactMatch NCIT:C85228 property_value: exactMatch Orphanet:3452 property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000776 name: Aeromonas hydrophila infection def: "Aeromonas hydrophila infection is a bacterial disease caused by infection from the Aeromonas hydrophila bacteria." [EFO:0000776] synonym: "Aeromonas hydrophila caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Aeromonas hydrophila disease or disorder" EXACT [] synonym: "Aeromonas hydrophila infectious disease" EXACT [] {comment="preferred label from MONDO"} xref: MedDRA:10056306 xref: MONDO:0005117 xref: NCIm:C0085491 xref: NCIt:C86125 is_a: EFO:0000771 {source="EFO:0000776", source="MONDO:Redundant"} ! bacterial disease property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000777 name: human granulocytic anaplasmosis def: "A tick-borne, infectious disease caused by Anaplasma phagocytophilum, an obligate intracellular bacterium that is typically transmitted to humans by ticks of the Ixodes ricinus species complex." [Wikipedia:Human_granulocytic_anaplasmosis] def: "An ehrlichiosis that results_in infection located_in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted_by lone start tick (Amblyomma americanum ). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash" [] comment: Human granulocytic ehrlichiosis (HGE) is also called human granulocytic anaplasmosis (HGA). subset: gard_rare synonym: "HGE" BROAD ABBREVIATION [DOID:0050025, GARD:0000071] synonym: "human anaplasmosis caused by Anaplasma phagocytophilum" RELATED [] synonym: "human anaplasmosis due to Anaplasma phagocytophilum" EXACT [] synonym: "human ehrlichial infection, human granulocytic type" RELATED [GARD:0000071] synonym: "human granulocytic anaplasmosis" EXACT [DOID:0050025] synonym: "Human granulocytic ehrlichiosis" EXACT [] synonym: "human granulocytic ehrlichiosis" EXACT [] {comment="preferred label from MONDO"} synonym: "infection by Anaplasma phagocytophilum" RELATED [] xref: DOID:0050025 {source="MONDO:equivalentTo", source="EFO:0000777"} xref: ICD9:082.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedlinePlus: 001381 xref: MONDO:0005118 xref: NCIm:C0483368 xref: SCTID:85708001 {source="MONDO:equivalentTo"} is_a: MONDO:0004805 ! leukocyte disorder is_a: MONDO:0025303 ! anaplasmosis relationship: EFO:0000784 CL:0000775 ! has_disease_location neutrophil relationship: RO:0000057 NCBITaxon:6943 ! has_participant Amblyomma americanum property_value: exactMatch DOID:0050025 property_value: exactMatch http://identifiers.org/snomedct/85708001 property_value: excluded_subClassOf MONDO:0016003 {source="DOID:0050025"} property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000778 name: anthrax infection def: "A Bacillaceae infectious disease that results_in infection located_in skin, located_in lung or located_in gastrointestinal tract, has_agent Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath." [] def: "A primary Bacillaceae infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_agent Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath." [] def: "An infection caused by Bacillus anthracis bacteria. It may affect the lungs, gastrointestinal tract, or skin. Patients with lung infection present with fever, headaches, cough, chest pain and shortness of breath. Patients with gastrointestinal infection present with nausea, vomiting and bloody diarrhea. Patients with skin infection develop blisters and ulcers." [NCIT:P378] comment: Editor note: DOID says skin disease but we suppress this as it would be identical to subclass skin anthrax synonym: "[X]Anthrax, unspecified" EXACT [] synonym: "[X]Anthrax, unspecified (disorder)" EXACT [] synonym: "anthrax" EXACT [NCIT:C84565] synonym: "Anthrax (disorder)" EXACT [] synonym: "anthrax disease" EXACT [] synonym: "anthrax disease" RELATED [DOID:7427] synonym: "anthrax infection" EXACT [] {comment="preferred label from MONDO"} synonym: "Anthrax NOS" EXACT [] synonym: "Anthrax NOS (disorder)" EXACT [] synonym: "Anthrax, unspecified" EXACT [] synonym: "Bacillus anthracis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Bacillus anthracis disease or disorder" EXACT [] synonym: "Bacillus anthracis infectious disease" EXACT [] synonym: "Charbon" EXACT [] synonym: "Infection due to Bacillus anthracis" EXACT [] synonym: "Milzbrand" EXACT [] synonym: "OTHER ANTHRAX MANIFEST" EXACT [] synonym: "Other specified anthrax manifestations" EXACT [] synonym: "Other specified anthrax manifestations (disorder)" EXACT [] synonym: "Other specified manifestations of anthrax" EXACT [] synonym: "Splenic fever" EXACT [] xref: DOID:7427 {source="MONDO:equivalentTo", source="EFO:0000778"} xref: ICD9:022 {source="DOID:7427"} xref: ICD9:022.8 {source="EFO:0000778"} xref: ICD9:022.9 {source="DOID:7427", source="EFO:0000778"} xref: MESH:D000881 {source="DOID:7427", source="MONDO:equivalentTo"} xref: MONDO:0005119 xref: NCIT:C84565 {source="DOID:7427", source="MONDO:equivalentTo"} xref: SCTID:409498004 {source="DOID:7427", source="MONDO:equivalentTo"} xref: UMLS:C0003175 {source="DOID:7427", source="MONDO:equivalentTo"} is_a: EFO:1001124 {source="MESH:D000881", source="MONDO:Entailed", source="MONDO:Redundant"} ! primary Bacillaceae infectious disease is_a: MONDO:0000314 {source="DOID:7427"} ! primary bacterial infectious disease property_value: exactMatch DOID:7427 property_value: exactMatch http://identifiers.org/mesh/D000881 property_value: exactMatch http://identifiers.org/snomedct/409498004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003175 property_value: exactMatch NCIT:C84565 property_value: excluded_subClassOf MONDO:0005093 {source="DOID:7427"} property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000779 name: Drosophila C virus infection def: "A virus infection induced by Drosophila C virus (DCV) which is a positive-sense RNA virus belonging to the Dicistroviridae family. This natural pathogen of the model organism Drosophila melanogaster is commonly used to investigate antiviral host-defense in flies, which involves both RNA interference and inducible responses." [EFO:0000779] synonym: "Drosophila C virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Drosophila C virus disease or disorder" EXACT [] synonym: "Drosophila C virus infection" EXACT [] {comment="preferred label from MONDO"} synonym: "Drosophila C virus infectious disease" EXACT [] xref: MONDO:0005120 xref: NCIm:C0318594 xref: PMID:25253354 {source="EFO:0000779"} is_a: EFO:0000763 ! viral disease is_a: MONDO:0700053 {source="EFO:0000779", source="MONDO:Redundant"} ! viral infectious disease, non-human animal relationship: characteristic_of NCBITaxon:7227 ! Drosophila melanogaster property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: RO:0002175 NCBITaxon:7227 {source="https://orcid.org/0000-0002-4142-7153"} [Term] id: EFO:0000780 name: Enterococcus faecalis infection def: "A bacterial infection induced by Enterococcus faecalis which is the most prevalent species (along with Enterococcus faecium) cultured from humans, accounting for more than 90% of clinical isolates. Enterococci are part of the normal intestinal flora of humans and animals. They have been long recognized as important human pathogens." [] def: "A bacterial infection induced by Enterococcus faecalis which is the most prevalent species (along with Enterococcus faecium) cultured from humans, accounting for more than 90% of clinical isolates. Enterococci are part of the normal intestinal flora of humans and animals. They have been long recognized as important human pathogens." [EFO:0000780] synonym: "Enterococcus faecalis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Enterococcus faecalis disease or disorder" EXACT [] synonym: "Enterococcus faecalis infection" EXACT [] {comment="preferred label from MONDO"} synonym: "Enterococcus faecalis infectious disease" EXACT [] xref: MedDRA:10051978 xref: MONDO:0005121 xref: NCIm:C0038404 xref: NCIt:C86368 is_a: EFO:0000771 {source="EFO:0000780", source="MONDO:Redundant"} ! bacterial disease property_value: definition:citation http://emedicine.medscape.com/article/216993-overview xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0000781 name: Pectobacterium carotovorum infection def: "A bacterial infection induced by Pectobacterium carotovorum which is is a bacterium of the family Enterobacteriaceae. This bacterius is a ubiquitous plant pathogen with a wide host range (carrot, potato, tomato, leafy greens, squash and other cucurbits, onion, green peppers, African violets etc.), able to cause disease in almost any plant tissue it invades. It is a very economically important pathogen in terms of postharvest losses, and a common cause of decay in stored fruits and vegetables. Decay caused by E. carotovora is often simply referred to as \"bacterial soft rot\" (BSR) though this may also be caused by other bacteria. Most plants or plant parts can resist invasion by the bacteria, unless some type of wound is present. High humidity and temperatures around 30°C favor development of decay. Mutants can be produced which are less virulent. Virulence factors include: pectinases, cellulases, (which degrade plant cell walls), and also proteases, lipases, xylanases and nucleases (along with the normal virulence factors for pathogens – Fe acquisition, LPS integrity, multiple global regulatory systems)." [EFO:0000781] synonym: "Erwinia carotovora infection" EXACT [] synonym: "Pectobacterium carotovorum infection" EXACT [] {comment="preferred label from MONDO"} synonym: "Pectobacterium caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Pectobacterium disease or disorder" EXACT [] synonym: "Pectobacterium infectious disease" EXACT [] xref: MONDO:0005122 xref: NCIm:C0085485 xref: Wikipedia:Pectobacterium_carotovorum {source="EFO:0000781"} is_a: EFO:0000771 {source="EFO:0000781", source="MONDO:Redundant"} ! bacterial disease property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0000782 name: Hibiscus chlorotic ringspot virus infection def: "\"A virus infection caused by hibiscus chlorotic ringspot virus. Symptoms induced by HCRSV in naturally infected Hibiscus rosa-sinensis differ considerably; they vary depending on the tolerance of the cultivar and environmental conditions, although duration of infection, and possibly, virulence of the virus isolate also might affect symptom severity (Waterworth et al., 1976; Waterworth, 1980; Raju, 1985). In some cultivars HCRSV induces chlorotic spots in leaves, but in most it induces leaf mottling and/or chlorotic rings. Some cultivars develop no conspicuous symptoms, especially at high average ambient temperatures such as those in summer in Florida (Raju, 1985). Flowers remain symptomless.\nLeaves of infected Abelmoschus manihot plants are usually chlorotic, and the chlorosis is more conspicuous when HCRSV occurs in complex with other viruses (AA Brunt and RS Phillips, Horticulture Research International, Wellesbourne, UK, personal communication, 1993).\"" [] xref: NCIm:C1017212 is_a: EFO:0000763 ! viral disease property_value: definition:citation http://www.plantwise.org/KnowledgeBank/Datasheet.aspx?dsid=37190 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0000783 name: myositis def: "An inflammatory disease involving a pathogenic inflammatory response in the muscle tissue." [MONDO:patterns/inflammatory_disease_by_site] def: "An inflammatory process affecting the skeletal muscles. Causes include infections, injuries, and autoimmune disorders." [] def: "Inflammation of a muscle or muscle tissue." [] synonym: "Focal Myositides" EXACT [] synonym: "Focal Myositis" EXACT [] synonym: "IDIOPATHIC INFLAMM MYOPATHIES" EXACT [] synonym: "Idiopathic Inflammatory Myopathies" EXACT [] synonym: "Idiopathic Inflammatory Myopathy" EXACT [] synonym: "INFECT MYOSITIS" EXACT [] synonym: "Infectious Myositides" EXACT [] synonym: "Infectious Myositis" EXACT [] synonym: "INFLAMM MUSCLE DIS" EXACT [] synonym: "INFLAMM MYOPATHIES IDIOPATHIC" EXACT [] synonym: "INFLAMM MYOPATHY" EXACT [] synonym: "inflammation of muscle tissue" EXACT [] synonym: "Inflammatory disorder of muscle" EXACT [] synonym: "inflammatory disorder of muscle" EXACT [DOID:633] synonym: "Inflammatory disorder of muscle (disorder)" EXACT [] synonym: "inflammatory disorder of muscle (disorder)" EXACT [] synonym: "Inflammatory Muscle Disease" EXACT [] synonym: "Inflammatory Muscle Diseases" EXACT [] synonym: "Inflammatory Myopathies" EXACT [] synonym: "Inflammatory Myopathies, Idiopathic" EXACT [] synonym: "Inflammatory myopathy" EXACT [] synonym: "Inflammatory Myopathy, Idiopathic" EXACT [] synonym: "MUSCLE DIS INFLAMM" EXACT [] synonym: "Muscle Disease, Inflammatory" EXACT [] synonym: "Muscle Diseases, Inflammatory" EXACT [] synonym: "Muscle inflammation" EXACT [] synonym: "muscle tissue inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "MUSCLE/LIGAMENT DIS NOS" EXACT [] synonym: "MYALGIA AND MYOSITIS NOS" EXACT [] synonym: "Mylagia and myositis, unspecified" EXACT [] synonym: "MYOPATHIES IDIOPATHIC INFLAMM" EXACT [] synonym: "Myopathies, Idiopathic Inflammatory" EXACT [] synonym: "Myopathies, Inflammatory" EXACT [] synonym: "MYOPATHY INFLAMM" EXACT [] synonym: "Myopathy, Idiopathic Inflammatory" EXACT [] synonym: "Myopathy, Inflammatory" EXACT [] synonym: "Myositides" EXACT [] synonym: "Myositides, Focal" EXACT [] synonym: "Myositides, Infectious" EXACT [] synonym: "Myositides, Proliferative" EXACT [] synonym: "Myositis (disorder)" EXACT [] synonym: "myositis disease" EXACT [] {comment="preferred label from MONDO"} synonym: "MYOSITIS INFECT" EXACT [] synonym: "Myositis NOS" EXACT [] synonym: "Myositis unspecified" EXACT [] synonym: "Myositis unspecified (disorder)" EXACT [] synonym: "Myositis, Focal" EXACT [] synonym: "Myositis, Infectious" EXACT [] synonym: "Myositis, NOS" EXACT [] synonym: "Myositis, Proliferative" EXACT [] synonym: "Proliferative Myositides" EXACT [] synonym: "Proliferative Myositis" EXACT [] synonym: "Unspecified disorder of muscle, ligament, and fascia" EXACT [] xref: DOID:633 {source="EFO:0000783", source="MONDO:equivalentTo"} xref: ICD10:M60 xref: ICD9:728.9 {source="EFO:0000783"} xref: MedDRA:10028653 xref: MESH:D009220 {source="DOID:633", source="EFO:0000783", source="MONDO:equivalentTo"} xref: MeSH:D009220 xref: MONDO:0021167 xref: NCIT:C27578 {source="DOID:633", source="EFO:0000783", source="MONDO:equivalentTo"} xref: NCIt:C27578 xref: OMIM:160750 xref: SCTID:128496001 {source="DOID:633", source="EFO:0000783", source="MONDO:equivalentTo"} xref: SNOMEDCT:128496001 xref: SNOMEDCT:26889001 is_a: EFO:0000540 ! immune system disease is_a: EFO:0004145 {source="DOID:633"} ! myopathy is_a: EFO:0009903 {source="MONDO:Redundant"} ! inflammatory disease relationship: EFO:0000784 UBERON:0000383 ! has_disease_location musculature of body property_value: exactMatch DOID:633 property_value: exactMatch http://identifiers.org/mesh/D009220 property_value: exactMatch http://identifiers.org/snomedct/128496001 property_value: exactMatch NCIT:C27578 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000786 name: anatomy basic component xref: MAT:0000000 is_a: EFO:0000635 ! organism part property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string [Term] id: EFO:0000787 name: obsolete_animal component property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.7.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "This was a duplicate of, and is now replaced by, UBERON:0000061 'anatomical structure' (http://purl.obolibrary.org/obo/UBERON_0000061)." xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000061 [Term] id: EFO:0000788 name: fungal component xref: MAT:0000002 is_a: EFO:0000786 ! anatomy basic component property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000789 name: obsolete_plant component property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.7.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate of, and replaced by, PO:0025131 plant anatomical entity (http://purl.obolibrary.org/obo/PO_0025131)." xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0025131 [Term] id: EFO:0000790 name: obsolete_adipose tissue def: "A specialized form of connective tissue consisting primarily of adipocytes (fat cells), surrounded by a meshwork of collagen fibers." [] def: "An organ system pertaining to fat." [] def: "Connective tissue in which fat is stored and which has the cells distended by droplets of fat." [] def: "The system of organs and cells involved in fat storage." [] synonym: "adipose" EXACT [] synonym: "adipose system" EXACT [] synonym: "Body Fat" EXACT [] synonym: "BODYFAT" EXACT [] synonym: "fat" EXACT [] synonym: "fat tissue" EXACT [] xref: BTO:0001487 xref: EV:0100382 xref: FBbt:00005065 xref: MA:0000009 xref: NCIt:C12472 xref: SAEL:2 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001013\nlabel : adipose tissue" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001013 [Term] id: EFO:0000791 name: obsolete_cardiovascular system def: "Organ system which consists of the heart, the systemic and pulmonary arterial and venous system, the lymphatic and the portal venous system." [] def: "The HEART and the BLOOD VESSELS by which BLOOD is pumped and circulated through the body." [] def: "The system of heart and blood vessels." [] synonym: "CARDIOVASC SYSTEM" EXACT [] synonym: "Cardiovascular Systems" EXACT [] synonym: "circulatory system" EXACT [] synonym: "CV system" EXACT [] synonym: "Herz und Gefaesssystem" EXACT [] synonym: "System, Cardiovascular" EXACT [] synonym: "Systems, Cardiovascular" EXACT [] xref: BTO:0000088 xref: EHDAA:394 xref: EMAPA:16104 xref: EV:0100017 xref: FBbt:00005057 xref: FMA:7161 xref: MA:0000010 xref: MAT:0000016 xref: MeSH:D002319 xref: MFO:000290 xref: SAEL:16 xref: TADS:0000146 xref: TAO:0000010 xref: XAO:0000100 xref: ZFA:0000010 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0004535\nlabel: cardiovascular system" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0004535 [Term] id: EFO:0000792 name: craniofacial tissue def: "Organism subdivision which is the part of the body which consists of the cranial and pharyngeal regions." [] def: "The larval cranium exclusive of the dorsal apotome." [] synonym: "epicranial plate" EXACT [] synonym: "head tissue" EXACT [] xref: FBbt:00003007 xref: MA:0000316 xref: MAT:0000017 xref: TGMA:0000720 xref: ZFA:0001114 is_a: UBERON:0000061 ! anatomical structure property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000793 name: obsolete_digestive system component def: "The organ system involved in the absorption of nutrients." [] synonym: "alimentary system" EXACT [] synonym: "Digestive system" EXACT [] synonym: "gastrointestinal system" EXACT [] xref: AAO:0000129 xref: EHDAA:514 xref: EMAPA:16246 xref: EV:0100056 xref: FBbt:00005055 xref: FMA:7152 xref: MA:0000323 xref: MAT:0000018 xref: MFO:0002980 xref: SAEL:28 xref: TADS:0000170 xref: TAO:0000339 xref: WBbt:0005748 xref: XAO:0000125 xref: ZFA:0000339 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001007\nlabel: digestive system" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001007 [Term] id: EFO:0000795 name: animal developmental tissue def: "Anatomical structure that is part of the embryo and is comprised of portions of tissue or cells." [] def: "Embryonic structure (body structure)" [] synonym: "embryonic structure" EXACT [] xref: FBbt:00000052 xref: NCIt:C13229 xref: SNOMEDCT:667009 xref: TAO:0001105 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000922 ! embryo property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0000796 name: obsolete_animal fluid property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.64" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with UBERON_0006314" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0006314 [Term] id: EFO:0000797 name: obsolete_gland def: "A cell, group of cells, or organ of endothelial origin that selectively removes materials from the blood, concentrates or alters them, and secretes them for further use in the body or for elimination from the body." [] def: "Endocrine system of the adult." [] synonym: "adult endocrine system" EXACT [] synonym: "Druese" EXACT [] synonym: "endocrine system" EXACT [] synonym: "glandula" EXACT [] xref: BTO:0000522 xref: FBbt:00003214 xref: MA:0002563 xref: MA:0002564 xref: SAEL:33 xref: SAEL:37 xref: TAO:0001158 xref: XAO:0000158 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002530\nlabel: gland" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002530 [Term] id: EFO:0000798 name: obsolete_haemopoietic system synonym: "hematological system" EXACT [] synonym: "hematolymphoid system" EXACT [] synonym: "hemopoietic system" EXACT [] xref: MA:0002434 xref: MAT:0000022 xref: MeSH:D006413 xref: NCIt:C12909 xref: SAEL:48 xref: XAO:0000122 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with UBERON_0002390" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002390 [Term] id: EFO:0000799 name: obsolete_appendage xref: MAT:0000023 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use: http://purl.obolibrary.org/obo/UBERON_0000026\nlabel: appendage" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000026 [Term] id: EFO:0000800 name: obsolete_liver and biliary system xref: EHDAA:2189 xref: EMAPA:16840 xref: EV:0100088 xref: MA:0000324 xref: MAT:0000024 xref: TAO:0000036 xref: XAO:0000132 xref: ZFA:0000036 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002423\nlabel: hepatobiliary system" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002423 [Term] id: EFO:0000801 name: obsolete_muscular system def: "The bodily system that is composed of skeletal, smooth, and cardiac muscle tissue and functions in movement of the body or of materials through the body, maintenance of posture, and heat production." [] synonym: "motor system" EXACT [] synonym: "muscle system" EXACT [] synonym: "muscles" EXACT [] synonym: "musculature" EXACT [] synonym: "musculature system" EXACT [] synonym: "muscule system" EXACT [] synonym: "Muskelsystem" EXACT [] xref: AAO:0000307 xref: BTO:0001485 xref: EV:0100146 xref: FBbt:00005069 xref: MA:0000015 xref: MAT:0000025 xref: MFO:0002100 xref: TADS:0000324 xref: TAO:0000548 xref: WBbt:0005737 xref: ZFA:0000548 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000383\nlabel: musculature of body" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000383 [Term] id: EFO:0000802 name: obsolete_nervous system def: "A regulatory system of the body that consists of neurons and neuroglial cells. The nervous system is divided into two parts, the central nervous system (CNS) and the peripheral nervous system (PNS)." [] def: "A regulatory system of the body that consists of neurons and neuroglial cells. The nervous system is divided into two parts, the central nervous system (CNS) and the peripheral nervous system (PNS). (Source: BioGlossary, www.Biology-Text.com)" [] def: "All the nerve centers and nerve fibers in the central, visceral and peripheral nervous systems." [] def: "The nervous system is essentially a biological information highway, and is responsible for controlling all the biological processes and movement in the body, and can also receive information and interpret it via electrical signals which are used in this nervous system. It consists of the Central Nervous System (CNS), essentially the processing area and the Peripheral Nervous System which detects and sends electrical impulses that are used in the nervous system." [] synonym: "Nervensystem" EXACT [] xref: AAO:0000324 xref: BTO:0001484 xref: EHDAA:826 xref: EMAPA:16469 xref: EV:0100162 xref: FBbt:00005093 xref: FMA:7157 xref: MA:0000016 xref: MAT:0000026 xref: NIFSTD:birnlex_844 xref: SAEL:71 xref: TAO:0000396 xref: WBbt:0005735 xref: XAO:0000177 xref: ZFA:0000396 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001016\nlabel: nervous system" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001016 [Term] id: EFO:0000803 name: obsolete_renal system property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0001008 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001008 [Term] id: EFO:0000804 name: obsolete_respiratory system structure def: "A system of organs subserving the function of respiration and in air-breathing vertebrates consisting typically of the lungs and their nervous and circulatory supply and the channels by which these are continuous with the outer air." [] def: "Functional system which consists of structures involved in respiration." [] synonym: "Apparatus respiratorius" EXACT [] synonym: "apparatus respiratorius" EXACT [] synonym: "Atmungssystem" EXACT [] synonym: "Respiratory system" EXACT [] synonym: "respiratory tract" EXACT [] synonym: "tracheal system" EXACT [] xref: AAO:0000541 xref: BTO:0000203 xref: EHDAA:2203 xref: EMAPA:16727 xref: EV:0100036 xref: FBbt:00005024 xref: FMA:7158 xref: MA:0000327 xref: MAT:0000030 xref: MFO:0003160 xref: SAEL:90 xref: TADS:0000043 xref: TAO:0000272 xref: XAO:0000117 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001004\nlabel: respiratory system" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001004 [Term] id: EFO:0000805 name: obsolete_sensory system def: "Multicellular anatomical structure with largely bona fide boundary that transduces some sensory stimulus to the nervous system." [] synonym: "central caudal thalamic nucleus" EXACT [] synonym: "central posterior thalamic nucleus" EXACT [] synonym: "sense organ" EXACT [] synonym: "sensory systems" EXACT [] xref: AAO:0000555 xref: FBbt:00005155 xref: MA:0002442 xref: MAT:0000031 xref: MFO:0003460 xref: TAO:0000182 xref: WBbt:0005832 xref: ZFA:0000282 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001032\nlabel: sensory system" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001032 [Term] id: EFO:0000806 name: obsolete_skeletal system def: "Anatomical system consisting of multiple elements and tissues that provides physical support." [] def: "Set of bones in the entire body." [] synonym: "Set of all bones" EXACT [] synonym: "Set of bones of body" EXACT [] synonym: "skeleton" EXACT [] synonym: "Skeleton (in vivo)" EXACT [] synonym: "skeleton component" EXACT [] xref: EHDAA:5047 xref: EMAPA:17213 xref: FMA:23875 xref: MA:0000018 xref: MAT:0000032 xref: TAO:0000434 xref: ZFA:0000434 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001434\nlabel: skeletal system" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001434 [Term] id: EFO:0000807 name: obsolete_integumental system def: "A division of the whole organism into specialized systems." [] def: "Something that covers or encloses; especially: an enveloping layer (as a skin, membrane, or husk) of an organism or one of its parts." [] def: "The taxon-independent term for the outer covering of an organism" [] synonym: "dermal system" EXACT [] synonym: "dermoid system" EXACT [] synonym: "epithelial system - sensu C elegans" EXACT [] synonym: "Hautsystem" EXACT [] synonym: "integument" EXACT [] synonym: "Integumentary system" EXACT [] synonym: "organ system" EXACT [] synonym: "tegument" EXACT [] xref: AAO:0000239 xref: BTO:0000634 xref: EHDAA:6520 xref: EMAPA:17524 xref: EV:0100151 xref: FBbt:00004856 xref: FMA:72979 xref: MA:0000014 xref: MAT:0000033 xref: TADS:0000108 xref: WBbt:0005730 xref: XAO:0000176 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002416\nlabel: integumental system" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002416 [Term] id: EFO:0000808 name: animal body part def: "Anatomical structure which is a primary subdivision of whole organism. The mereological sum of these is the whole organism." [] def: "Anatomical structure, which is a subdivision of a cardinal body part; it may exclude bones; is demarcated from other subdivisions of the same cardinal body part by anatomical surfaces or lines or topographical references; together with other contiguous subdivisions of the same cardinal body part, it constitutes a cardinal body part. Examples: thorax, perineum, back of neck, forearm, hand, phalanx, nose, auricle of ear, scrotum." [] synonym: "anatomical site" EXACT [] synonym: "body part" EXACT [] synonym: "organism subdivision" EXACT [] synonym: "Principal body part subdivision" EXACT [] synonym: "Subdivision of cardinal body part" EXACT [] xref: EV:0100008 xref: FMA:67504 xref: MAT:0000293 xref: NCIt:C32221 xref: TAO:0001308 xref: XAO:0003013 is_a: UBERON:0000061 ! anatomical structure property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000809 name: obsolete_animal reproductive system synonym: "genital system" EXACT [] synonym: "reproductive system" EXACT [] synonym: "reproductive system - animals" EXACT [] xref: EHDAA:5923 xref: EMAPA:17381 xref: EV:0100100 xref: FBbt:00004857 xref: FMA:7160 xref: MAT:0000305 xref: SAEL:89 xref: TAO:0000632 xref: XAO:0000142 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0000990 label : reproductive system" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000990 [Term] id: EFO:0000810 name: obsolete_fat body sensu invertebrata def: "A fat body is an insect gland dorsal to the insect gut, with a function analogous to that of the vertebrate liver. It is a storage organ for fats, glycogen and protein and is a major site of intermediary metabolism." [] def: "An invertebrate tissue which serves as a store of lipids and in nwhich a great deal of catabolic and anabolic activity occurs" [] def: "Collective term for the masses and sheets of adipose tissue that are distributed throughout the organism's body." [] synonym: "fat body" EXACT [] xref: FBbt:00005066 xref: MAT:0000096 xref: MeSH:D005216 xref: TADS:0000321 xref: TGMA:0001856 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with UBERON_0003917" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003917 [Term] id: EFO:0000811 name: fat body sensu amphibia def: "An adipose tissue associated with the amphibiian gonad" [] synonym: "Fat_bodies" EXACT [] xref: AAO:0000157 xref: MAT:0000456 is_a: UBERON:0001013 ! adipose tissue property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000813 name: obsolete_white fat xref: MA:0000058 xref: MAT:0000199 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0001347 label : white adipose tissue" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001347 [Term] id: EFO:0000814 name: obsolete_artery def: "Any of the tubular branching muscular- and elastic-walled vessels that carry blood from the heart through the body." [] def: "Subdivision of arterial tree (organ) which consists of branching sets of tubes (arterial trunk) that form a tree; together with other arterial trees (organ part), it constitutes an arterial tree (organ). Examples: pulmonary arterial tree, right coronary arterial tree, superior mesenteric tree." [] def: "Vessels that carry blood away from the heart." [] synonym: "Arterial subtree" EXACT [] synonym: "arterial system" EXACT [] synonym: "Arterial tree organ part" EXACT [] synonym: "Arterial vessel" EXACT [] xref: BTO:0000573 xref: EHDAA:396 xref: EMAPA:16201 xref: EV:0100026 xref: FMA:50720 xref: MA:0000061 xref: MAT:0000034 xref: MFO:0002900 xref: TAO:0000005 xref: XAO:0000114 xref: ZFA:0000005 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001637\nlabel: artery" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001637 [Term] id: EFO:0000815 name: obsolete_heart def: "1: A hollow muscular organ of vertebrate animals that by its rhythmic contraction acts as a force pump maintaining the circulation of the blood. n2: A structure in an invertebrate animal functionally analogous to the vertebrate heart." [] def: "1: A hollow muscular organ of vertebrate animals that by its rhythmic contraction acts as a force pump maintaining the circulation of the blood.n2: A structure in an invertebrate animal functionally analogous to the vertebrate heart." [] def: "Blood pumping organ composed of four chambers: sinus venosus, atrium, cardiac ventricle and bulbus arteriosus." [] def: "Blood pumping organ composed of four components: sinus venosus, atrium, cardiac ventricle and bulbus arteriosus." [] def: "Organ with cavitated organ parts, which is continuous with the systemic and\npulmonary arterial and venous trees. Examples: There is only one heart." [] synonym: "adult heart" EXACT [] synonym: "Herz" EXACT [] xref: BTO:0000562 xref: EHDAA:420 xref: EMAPA:16105 xref: EV:0100018 xref: FBbt:00003154 xref: FMA:7088 xref: MAT:0000036 xref: MFO:0080860 xref: SAEL:47 xref: TADS:0000147 xref: TAO:0000114 xref: XAO:0000064 xref: ZFA:0000114 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000948\nlabel: heart" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000948 [Term] id: EFO:0000816 name: obsolete_vein def: "Any of the tubular branching vessels that carry blood from the capillaries toward the heart." [] def: "Subdivision of venous tree (organ) which consists of branching sets of tubes (venous trunks) that form a tree; together with other venous trees (organ part), it constitutes a venous tree (organ). Examples: subclavian venous tree, jugular tree, extrahepatic portal tree, common iliac venous tree." [] def: "Vessels that carry blood to the heart." [] synonym: "Venous subtree" EXACT [] synonym: "venous system" EXACT [] synonym: "Venous tree organ part" EXACT [] synonym: "venous vessel" EXACT [] xref: BTO:0000234 xref: EHDAA:486 xref: EMAPA:16240 xref: EV:0100031 xref: FMA:50723 xref: MA:0000066 xref: MAT:0000037 xref: TAO:0000082 xref: XAO:0000115 xref: ZFA:0000082 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001638\nLabel : vein" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001638 [Term] id: EFO:0000817 name: obsolete_blood vessel def: "Any of the vessels through which blood circulates in the body." [] synonym: "blood vasculature" EXACT [] synonym: "blood vessels" EXACT [] synonym: "circulatory system" EXACT [] synonym: "vasculature" EXACT [] synonym: "vessel" EXACT [] xref: BTO:0001102 xref: EV:0100456 xref: MAT:0000393 xref: MeSH:D001808 xref: MFO:0002960 xref: SAEL:9 xref: TAO:0001079 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001981\nlabel: blood vessel" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001981 [Term] id: EFO:0000818 name: obsolete_carotid artery property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0005396 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005396 [Term] id: EFO:0000819 name: obsolete_myocardium def: "Muscle layer of organ which has as its parts the myocardium proper and the conducting system of the heart." [] def: "The middle and thickest layer of the heart wall, composed of cardiac muscle." [] def: "The principal muscle tissue of the vertebrate heart made up of striated fibers that appear to be separated from each other under the electron microscope but that function in long-term rhythmic contraction as if in protoplasmic continuity." [] synonym: "cardiac muscle" EXACT [] synonym: "Heart muscle" EXACT [] synonym: "Muscle of heart" EXACT [] xref: BTO:0000199 xref: BTO:0000901 xref: EMAPA:16208 xref: EV:0100022 xref: FMA:9462 xref: MA:0000080 xref: MAT:0000453 xref: TAO:0001319 xref: XAO:0000065 xref: ZFA:0001319 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002349\nlabel: myocardium" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002349 [Term] id: EFO:0000820 name: obsolete_pericardium def: "1: The conical sac of serous membrane that encloses the heart and the roots of the great blood vessels of vertebrates.n2: A cavity or space that contains the heart of an invertebrate and in arthropods is a part of the hemocoel." [] def: "Organ cluster which has as its parts the fibrous pericardium and the pericardial sac." [] synonym: "pericardial sac" EXACT [] xref: BTO:0000717 xref: EHDAA:5376 xref: EMAPA:17174 xref: EV:0100023 xref: FMA:9869 xref: MAT:0000454 xref: ZFA:0000054 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002407\nlabel: pericardium" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002407 [Term] id: EFO:0000821 name: obsolete_endocardium def: "A thin serous membrane lining the cavities of the heart." [] def: "Layer that lines the lumen of the heart." [] def: "Tunica intima which has as its parts the endothelium of endocardium and the fibroelastic connective tissue that surrounds the cavity of a cardiac chamber." [] xref: BTO:0000387 xref: EMAPA:17868 xref: EV:0100021 xref: FMA:7280 xref: MA:0000076 xref: MAT:0000455 xref: TAO:0001320 xref: ZFA:0001320 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002165\nlabel: endocardium" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002165 [Term] id: EFO:0000825 name: obsolete_mouth structure def: "The anterior opening of the stomodeum located between the cibarium and pharynx; not to be confused with the secondary mouth (anterior opening of the cibarium) or the tertiary mouth (anterior opening of the food meatus)." [] def: "The natural opening through which food passes into the body of an animal and which in vertebrates is typically bounded externally by the lips and internally by the pharynx and encloses the tongue, gums, and teeth." [] def: "The opening of the adult alimentary canal in the tip of the labrum." [] synonym: "adult mouth" EXACT [] synonym: "anatomische Mund" EXACT [] synonym: "buccal cavity" EXACT [] synonym: "cavitas oris" EXACT [] synonym: "cavum oris" EXACT [] synonym: "Mouth" EXACT [] synonym: "mouth cavity" EXACT [] synonym: "oral cavity" EXACT [] synonym: "oral fissure" EXACT [] synonym: "Oral part of face" EXACT [] synonym: "Oral region" EXACT [] synonym: "oral vestibule" EXACT [] synonym: "pharyngeal valve" EXACT [] synonym: "Rima oris" EXACT [] synonym: "valve" EXACT [] synonym: "vestibule of mouth" EXACT [] synonym: "vestibulum oris" EXACT [] xref: AAO:0000053 xref: BTO:0001090 xref: EMAPA:16262 xref: EV:0100057 xref: FBbt:00003126 xref: FMA:49184 xref: MA:0000341 xref: MAT:0000038 xref: TADS:0000040 xref: TAO:0000547 xref: TGMA:0000131 xref: WBbt:0005255 xref: XAO:0000126 xref: XAO:0003029 xref: ZFA:0000547 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000165\nlabel: mouth" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000165 [Term] id: EFO:0000826 name: obsolete_ear def: "The organ of hearing." [] synonym: "auditory apparatus" EXACT [] synonym: "auditory system" EXACT [] synonym: "auris" EXACT [] synonym: "otic vesicle" EXACT [] synonym: "vestibuloauditory system" EXACT [] synonym: "vestibuloauditpry system" EXACT [] xref: AAO:0000631 xref: BTO:0000368 xref: EHDAA:502 xref: EMAPA:16193 xref: EV:0100353 xref: FMA:52780 xref: MA:0000236 xref: MAT:0000138 xref: MeSH:D004423 xref: MFO:0003660 xref: NCIt:C12394 xref: NIFSTD:birnlex_1062 xref: TAO:0001138 xref: XAO:0000189 xref: ZFA:0001138 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with UBERON_0001690" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001690 [Term] id: EFO:0000827 name: obsolete_eye structure def: "A cavitated compound organ that transduces light waves into neural signals." [] def: "A light-perceptive organ consisting of an aggregation of optic elements (ommatidia) generally located on each side of the head; the cuticular part (cornea) consists of several hundred circular corneal facets (lenses); bounded by the ocular sclerite." [] def: "An organ of sight; especially: a nearly spherical hollow organ that is lined with a sensitive retina, is lodged in a bony orbit in the skull, is the vertebrate organ of sight, and is normally paired." [] def: "An organ of sight; especially: a nearly spherical hollow organ that is lined with a sensitive retina, is lodged in a bony orbit in the skull, is the vertebrate organ of sight, and is normally paired.n2: All the visible structures within and surrounding the orbit and including eyelids, eyelashes, and eyebrows." [] def: "Cavitated compound organ that consists of the neural retina, lens, cornea and iris and is the sensory apparatus of the visual system." [] def: "The compound eye is a light sensing organ composed of ommatidia." [] synonym: "adult compound eye" EXACT [] synonym: "compound eye" EXACT [] synonym: "eye" EXACT [] synonym: "eyeball" EXACT [] synonym: "eyes" EXACT [] synonym: "Facettenauge" EXACT [] synonym: "Komplexauge" EXACT [] synonym: "Orbital part of face" EXACT [] synonym: "Orbital region" EXACT [] synonym: "visual apparatus" EXACT [] synonym: "visual system" EXACT [] synonym: "visual_system" EXACT [] synonym: "zusammengesetztes Auge" EXACT [] xref: AAO:0000632 xref: BTO:0000439 xref: EHDAA:936 xref: EMAPA:16198 xref: EV:0100336 xref: FBbt:00004508 xref: FMA:54448 xref: MA:0000261 xref: MAT:0000140 xref: MeSH:D005123 xref: MFO:0003480 xref: NIFSTD:birnlex_1169 xref: TADS:0000061 xref: TAO:0000107 xref: TAO:0001127 xref: TGMA:0000024 xref: XAO:0000179 xref: ZFA:0000107 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000970\nlabel: eye" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000970 [Term] id: EFO:0000828 name: obsolete_nose structure def: "*Subdivision of face which consists of the nasal skeleton, nasal septum and nasal cavity." [] def: "1a: The part of the face that bears the nostrils and covers the anterior part of the nasal cavity; broadly: this part together with the nasal cavity.n1b: The anterior part of the head at the top or end of the muzzle: snout, proboscis.n2: The vertebrate olfactory organ." [] def: "1a: The part of the face that bears the nostrils and covers the anterior part of the nasal cavity; broadly: this part together with the nasal cavity.nb: The anterior part of the head at the top or end of the muzzle: snout, proboscis.n2. The vertebrate olfactory organ." [] def: "Any sense organ (FBbt:00005155) that functions in (some) detection of chemical stimulus involved in sensory perception (GO:0050907)." [] def: "Any sense organ (FBbt:00005155) that has function 'detection of chemical stimulus involved in sensory perception (GO:0050907)'." [] synonym: "chemosensory sensory organ" EXACT [] synonym: "nose" EXACT [] xref: AAO:0000334 xref: BTO:0000840 xref: EHDAA:1502 xref: EMAPA:16542 xref: EV:0100037 xref: FBbt:00005157 xref: FMA:46472 xref: MA:0000281 xref: MFO:0003640 xref: SAEL:72 xref: TAO:0001149 xref: XAO:0000201 xref: XAO:0003033 xref: ZFA:0001149 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0000004 label : olfactory apparatus" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000004 [Term] id: EFO:0000830 name: obsolete_taste system def: "Any sense organ (FBbt:00005155) that functions in (some) detection of chemical stimulus involved in sensory perception of taste (GO:0050912)." [] def: "Any sense organ (FBbt:00005155) that has function 'detection of chemical stimulus involved in sensory perception of taste (GO:0050912)'." [] synonym: "Gustatory organ system" EXACT [] synonym: "gustatory sensory organ" EXACT [] synonym: "gustatory system" EXACT [] xref: FBbt:00005159 xref: FMA:7194 xref: MAT:0000275 xref: TAO:0001101 xref: ZFA:0001101 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0001033 label : gustatory system" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001033 [Term] id: EFO:0000831 name: obsolete_cranium def: "1: The skull of a vertebrate.n2: The portion of the skull enclosing the brain; the braincase." [] def: "Skeletal system that is part of the head, including the splanchnocranium, chondrocranium, and dermatocranium." [] def: "Skeletal system which is part of the skull, including the splanchnocranium, chondrocranium, and dermatocranium." [] def: "The sclerotized skull-like part of the head." [] synonym: "adult cranium" EXACT [] synonym: "cranial skeleton" EXACT [] synonym: "craniofacial skeleton bone" EXACT [] synonym: "Kopfkapsel" EXACT [] synonym: "skeletal system of head" EXACT [] synonym: "skull" EXACT [] xref: BTO:0001295 xref: EHDAA:6029 xref: EMAPA:17680 xref: FMA:87596 xref: MA:0000316 xref: MAT:0000340 xref: TAO:0000737 xref: TGMA:0000003 xref: ZFA:0000737 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0003128\nlabel: cranium" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003128 [Term] id: EFO:0000832 name: obsolete_retina structure def: "Layer of wall of eyeball which is continuous with optic nerve." [] def: "Multi-tissue structure that contains the retinal neural layer and the retinal pigmented epithelium, and develops from the optic cup." [] def: "The array of photoreceptors & the cells that support them in a compound eye." [] def: "The array of photoreceptors and the cells that support them in a compound eye." [] def: "The portion of the eye developing from the optic primordium and including the neural retina and the retinal pigment layer. Kimmel et al, 1995." [] def: "The sensory membrane that lines the eye, is composed of several layers including one containing the rods and cones, and functions as the immediate instrument of vision by receiving the image formed by the lens and converting it into chemical and nervous signals which reach the brain by way of the optic nerve." [] synonym: "Inner layer of eyeball" EXACT [] synonym: "Netzhaut" EXACT [] synonym: "retina" EXACT [] synonym: "retinas" EXACT [] synonym: "Tunica interna of eyeball" EXACT [] xref: BTO:0001175 xref: EHDAA:4757 xref: EMAPA:17168 xref: EV:0100348 xref: FBbt:00004200 xref: FMA:58301 xref: MA:0000276 xref: MAT:0000142 xref: MFO:0003600 xref: NIFSTD:birnlex_1153 xref: SAEL:91 xref: TADS:0000551 xref: TAO:0000152 xref: XAO:0000009 xref: ZFA:0000152 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000966\nlabel: retina" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000966 [Term] id: EFO:0000833 name: obsolete_tongue def: "A fleshy movable process of the floor of the mouths of most vertebrates that bears sensory end organs and small glands and functions especially in taking and swallowing food and in humans as a speech organ." [] xref: BTO:0001385 xref: EHDAA:9144 xref: EMAPA:18870 xref: EV:0100058 xref: FMA:54640 xref: MA:0000347 xref: MAT:0000040 xref: SAEL:109 xref: XAO:0000446 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001723\nlabel: tongue" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001723 [Term] id: EFO:0000834 name: obsolete_intestine def: "The fluid-feeding habit of adult mosquitoes is reflected in the structure and ultrastructure of the alimentary canal." [] def: "The tubular part of the alimentary canal that extends from the stomach to the anus." [] synonym: "adult alimentary canal" EXACT [] synonym: "Bowel" EXACT [] synonym: "gut" EXACT [] synonym: "intestines" EXACT [] xref: AAO:0000246 xref: BTO:0000648 xref: EHDAA:518 xref: EV:0100071 xref: FMA:7199 xref: MA:0000328 xref: MAT:0000043 xref: MFO:0003040 xref: SAEL:55 xref: TADS:0000165 xref: TAO:0001338 xref: TGMA:0001819 xref: WBbt:0005772 xref: XAO:0000129 xref: ZFA:0001338 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000160\nlabel: intestine" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000160 [Term] id: EFO:0000835 name: obsolete_esophagus def: "A muscular tube that in humans is about nine inches (23 centimeters) long and passes from the pharynx down the neck between the trachea and the spinal column and behind the left bronchus where it pierces the diaphragm slightly to the left of the middle line and joins the cardiac end of the stomach." [] def: "Organ with organ cavity which is continuous superiorly with the pharynx and inferiorly with the stomach. Examples: There is only one esophagus." [] def: "The part of the stomodeum following the pharynx." [] synonym: "adult oesophagus" EXACT [] synonym: "gullet" EXACT [] synonym: "oesophagus" EXACT [] xref: AAO:0000145 xref: BTO:0000959 xref: EHDAA:2937 xref: EMAPA:16833 xref: EV:0100069 xref: FBbt:00005381 xref: FMA:7131 xref: MAT:0000048 xref: MFO:0003000 xref: SAEL:74 xref: TADS:0000057 xref: TAO:0000204 xref: TGMA:0000134 xref: XAO:0000127 xref: ZFA:0000204 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001043\nlabel: esophagus" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001043 [Term] id: EFO:0000836 name: obsolete_pharynx structure def: "Swollen region of the anterior foregut, posterior to the mouth and anterior to the liver; its walls form the jaws and gills. Kimmel et al, 1995." [] def: "The part of the stomodeum between the mouth and the oesophagus." [] def: "The part of the vertebrate alimentary canal between the cavity of the mouth and the esophagus.nThe pharynx of Nematodes is an efficient pump and forces food into the intestines." [] synonym: "adult pharynx" EXACT [] synonym: "anterior pharynx" EXACT [] synonym: "antlia" EXACT [] synonym: "muscular dilation of the oesophagus" EXACT [] synonym: "pharyngeal valve" EXACT [] synonym: "Pharynx" EXACT [] synonym: "post-pharynx" EXACT [] synonym: "posterior pharynx" EXACT [] synonym: "Postpharynx" EXACT [] synonym: "Praepharynx" EXACT [] synonym: "pump" EXACT [] synonym: "pumping organ" EXACT [] synonym: "Pumporgan" EXACT [] xref: BTO:0001049 xref: EHDAA:2947 xref: EMAPA:16706 xref: EV:0100065 xref: FBbt:00005380 xref: FMA:46688 xref: MA:0000432 xref: MAT:0000049 xref: MFO:0003080 xref: SAEL:82 xref: TADS:0000042 xref: TAO:0000056 xref: TGMA:0000132 xref: WBbt:0003681 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0001042 label : chordate pharynx" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001042 [Term] id: EFO:0000837 name: obsolete_stomach def: "A dilatation of the alimentary canal of a vertebrate communicating anteriorly with the esophagus and posteriorly with the duodenum." [] def: "A flask-shaped posterior region, which retains the blood meal, and which in culicines is capable of much distension." [] def: "Organ with organ cavity which is continuous proximally with the esophagus and distally with the small intestine. Examples: There is only one stomach." [] synonym: "adult stomach" EXACT [] synonym: "gaster" EXACT [] xref: AAO:0000579 xref: BTO:0001307 xref: EHDAA:2993 xref: EMAPA:17021 xref: EV:0100070 xref: FMA:7148 xref: MA:00000353 xref: MAT:0000051 xref: MFO:0003120 xref: SAEL:102 xref: TADS:0000172 xref: TGMA:0001041 xref: XAO:0000128 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000945\nlabel: stomach" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000945 [Term] id: EFO:0000838 name: obsolete_larynx def: "Heterogeneous cluster that connects the pharynx to the tracheobronchial tree. Examples: There is only one larynx." [] def: "The modified upper part of the trachea of air-breathing vertebrates that in humans, most other mammals, and a few lower forms contains the vocal cords." [] xref: AAO:0000268 xref: BTO:0001208 xref: EMAPA:18333 xref: EV:0100039 xref: FMA:55097 xref: MA:0000414 xref: MAT:0000187 xref: SAEL:59 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001737\nlabel: larynx" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001737 [Term] id: EFO:0000839 name: obsolete_tooth property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0001091 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001091 [Term] id: EFO:0000840 name: obsolete_large intestine def: "Organ with organ cavity which is continuous proximally with the small intestine and distally with the anal canal. Examples: There is only large intestine." [] def: "The hindgut of adult mosquito consists of pyloric chamber, anterior intestine, rectum, anal canal and anus." [] def: "The more terminal division of the vertebrate intestine that is wider and shorter than the small intestine, typically divided into cecum, colon, and rectum, and concerned especially with the resorption of water and the formation of feces." [] def: "The posterior intestine has short longitudinally arranged epithelial folds which are similar to the colon of higher vertebrates." [] synonym: "adult hindgut" EXACT [] synonym: "hindgut" EXACT [] synonym: "intestinum crassum" EXACT [] synonym: "large bowel" EXACT [] synonym: "posterior intestine" EXACT [] xref: BTO:0000706 xref: EMAPA:19252 xref: EV:0100077 xref: FMA:7201 xref: MA:0000333 xref: MAT:0000046 xref: SAEL:58 xref: TGMA:0001020 xref: XAO:0000131 xref: ZFA:0000706 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000059\nlabel: large intestine" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000059 [Term] id: EFO:0000841 name: obsolete_small intestine def: "The anterior intestine is a rather narrow looped tube of the adult hindgut." [] def: "The part of the intestine that lies between the stomach and colon, consists of duodenum, jejunum, and ileum, secretes digestive enzymes, and is the chief site of the absorption of digested nutrients. The proximal portion of the intestine." [] def: "The terminal region of the mid intestine is comprised of specialized enterocytes that appear to play a role in mucosal immunity." [] synonym: "adult anterior intestine" EXACT [] synonym: "anterior intestine" EXACT [] synonym: "intestinum tenue" EXACT [] xref: BTO:0000651 xref: EV:0100072 xref: FMA:14544 xref: MA:0000337 xref: MAT:0000047 xref: SAEL:96 xref: TGMA:0001024 xref: XAO:0000130 xref: ZFA:0001323 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002108\nlabel: small intestine" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jon Ison" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002108 [Term] id: EFO:0000843 name: obsolete_ascending colon def: "Organ part which is continuous with the cecum proximally and the transverse colon distally." [] def: "The portion of the colon between the cecum and the right colic flexure." [] synonym: "colon ascendens" EXACT [] xref: BTO:0000270 xref: EV:0100450 xref: FMA:14545 xref: MAT:0000311 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001156\nlabel: ascending colon" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001156 [Term] id: EFO:0000844 name: obsolete_transverse colon def: "The portion of the colon that runs transversely across the upper part of the abdomen, from the right to the left colic flexure." [] synonym: "colon transversum" EXACT [] xref: BTO:0000272 xref: FMA:14546 xref: MAT:0000312 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001157\nlabel: transverse colon" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001157 [Term] id: EFO:0000845 name: obsolete_descending colon def: "The portion of the colon between the left colic flexure and the sigmoid colon at the pelvic brim; the portion of the descending colon lying in the left iliac fossa is sometimes called the iliac colon." [] synonym: "colon descendens" EXACT [] xref: BTO:0000641 xref: FMA:14547 xref: MAT:0000313 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001158\nlabel: descending colon" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001158 [Term] id: EFO:0000846 name: obsolete_sigmoid colon def: "The S-shaped part of the colon which lies in the pelvis, extending from the pelvic brim to the third segment of the sacrum, and continuous above with the descending (or iliac) colon and below with the rectum." [] synonym: "colon sigmoideum" EXACT [] synonym: "pelvic colon" EXACT [] synonym: "sigmoid flexure" EXACT [] xref: BTO:0000645 xref: FMA:14548 xref: MAT:0000314 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "http://purl.obolibrary.org/obo/UBERON_0001159\nlabel: sigmoid colon" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001159 [Term] id: EFO:0000847 name: obsolete_anal region def: "Organ with organ cavity which is continuous proximally with the rectum and distally terminates with the anus. Examples: There is only one anal canal." [] def: "The anus is situated in a small area of membrane between the bases of the cerci." [] synonym: "anal canal" EXACT [] synonym: "Anal canal viewed anatomically" EXACT [] synonym: "anal pad" EXACT [] synonym: "Anatomical anal canal" EXACT [] synonym: "anus" EXACT [] synonym: "cloaca" EXACT [] synonym: "cloacal chamber" EXACT [] xref: EMAPA:16831 xref: EV:0100082 xref: FBbt:00005785 xref: FMA:15703 xref: MA:0000328 xref: MAT:0000042 xref: SAEL:5 xref: TGMA:0001279 xref: WBbt:0005774 xref: XAO:0000244 xref: ZFA:0000330 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001353\nlabel: anal region" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001353 [Term] id: EFO:0000848 name: obsolete_rectum def: "Posterior-most portion of the alimentary canal, terminating in the anus." [] def: "The bladder-like rectum is bounded by a layer of circular muscle fibres and by sparser longitudinal fibres." [] def: "The terminal part of the intestine from the sigmoid flexure to the anus." [] synonym: "adult rectum" EXACT [] synonym: "intestinum rectum" EXACT [] synonym: "rectal sac" EXACT [] xref: BTO:0001158 xref: EHDAA:5836 xref: EMAPA:17896 xref: EV:0100081 xref: FBbt:00005756 xref: FMA:14544 xref: MA:0000336 xref: MAT:0000050 xref: SAEL:88 xref: TADS:0000166 xref: TGMA:0001028 xref: WBbt:0005773 xref: XAO:0000238 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001052\nlabel: rectum" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001052 [Term] id: EFO:0000849 name: obsolete_appendix def: "Organ with organ cavity which is continuous proximally with the cecum and distally terminates in the tip of the appendix. Examples: There is only one appendix." [] synonym: "vermiform appendix" EXACT [] xref: BTO:0000084 xref: EV:0100080 xref: FMA:14542 xref: MA:00001540 xref: MAT:0000287 xref: SAEL:7 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0001154 label : vermiform appendix" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001154 [Term] id: EFO:0000850 name: obsolete_caecum def: "The first part of the large intestine, forming a dilated pouch into which open the ileum, colon, and appendix vermiformis." [] synonym: "blind intestine" EXACT [] synonym: "blindgut" EXACT [] synonym: "cecum" EXACT [] synonym: "intestinum caecum" EXACT [] synonym: "Intestinum crassum caecum" EXACT [] synonym: "intestinum crassum cecum" EXACT [] xref: BTO:0000166 xref: EHDAA:3913 xref: EV:0100397 xref: FMA:14541 xref: MA:00000334 xref: MAT:0000288 xref: SAEL:15 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001153\nlabel: caecum" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001153 [Term] id: EFO:0000851 name: obsolete_duodenum def: "The first part of the small intestine extending from the pylorus to the jejunum." [] synonym: "anterior intestine" EXACT [] synonym: "proximal intestine" EXACT [] synonym: "upper intestine" EXACT [] xref: BTO:0000365 xref: EHDAA:3830 xref: EMAPA:18852 xref: EV:0100073 xref: FMA:7206 xref: MA:0000338 xref: MAT:0000044 xref: SAEL:31 xref: XAO:0000236 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002114\nlabel: duodenum" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002114 [Term] id: EFO:0000852 name: obsolete_adrenal medulla def: "The inner, reddish-brown portion of the adrenal glands that synthesizes, stores, and releases epinephrine and norepinephrine." [] synonym: "Medulla (Glandula suprarenalis)" EXACT [] synonym: "Medulla of adrenal gland" EXACT [] synonym: "medulla of glandula suprarenalis" EXACT [] synonym: "medulla of suprarenal gland" EXACT [] synonym: "Suprarenal medulla" EXACT [] xref: BTO:0000049 xref: EMAPA:18428 xref: EV:0100135 xref: FMA:15633 xref: MA:0000119 xref: MAT:0000495 xref: XAO:0000166 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001236\nlabel: adrenal medulla" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001236 [Term] id: EFO:0000853 name: obsolete_gall bladder def: "A small, pear-shaped muscular sac, located under the right lobe of the liver, in which bile secreted by the liver is stored until needed by the body for digestion." [] def: "Organ with organ cavity which is continuous proximally with the cystic duct and distally terminates in the fundus of the gallbladder. Examples: There is only one gallbladder." [] synonym: "Gallbladder" EXACT [] xref: BTO:0000493 xref: EHDAA:8062 xref: EMAPA:17202 xref: EV:0100090 xref: FMA:7202 xref: MA:000356 xref: MAT:0000072 xref: MFO:0003020 xref: SAEL:44 xref: TAO:0000208 xref: XAO:0000135 xref: ZFA:0000208 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002110\nlabel: gallbladder" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002110 [Term] id: EFO:0000854 name: obsolete_mammary gland def: "Lobular organ which consist of a lactiferous duct tree and the set of lactiferous acini that are connected to duct tree. Examples: There are variable numbers of lactiferous duct trees." [] def: "The specialized accessory gland of the skin of female mammals that secretes milk. In the human female, it is a compound tubuloalveolar gland composed of 15 to 25 lobes arranged radially about the nipple and separated by connective and adipose tissue, each lobe having its own excretory (lactiferous) duct opening on the nipple. The lobes are subdivided into lobules, with the alveolar ducts and alveoli being the secretory portion of the gland." [] synonym: "breast" EXACT [] synonym: "Brustdruese" EXACT [] synonym: "glandula mammaria" EXACT [] synonym: "Lactiferous gland" EXACT [] synonym: "Lobe of breast" EXACT [] synonym: "Lobe of mammary gland" EXACT [] synonym: "mamma" EXACT [] xref: BTO:0000817 xref: EHDAA:6522 xref: EMAPA:17759 xref: EV:0100125 xref: FMA:62088 xref: MA:0000145 xref: MAT:0000073 xref: SAEL:64 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001911\nlabel: mammary gland" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001911 [Term] id: EFO:0000855 name: obsolete_pancreas def: "A large lobulated gland of vertebrates that secretes digestive enzymes and the hormones insulin and glucagon." [] def: "Lobular organ the parenchyma of which consists of glandular acini which communicate via a duct system with the duodenum. Examples: There is only one pancreas." [] xref: BTO:0000988 xref: EHDAA:6893 xref: EMAPA:18816 xref: EV:0100092 xref: FMA:7198 xref: MA:0001582 xref: MA:0002415 xref: MAT:0000075 xref: SAEL:80 xref: TAO:0000140 xref: XAO:0000136 xref: ZFA:0000140 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001264\nlabel: pancreas" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001264 [Term] id: EFO:0000856 name: obsolete_islet of Langerhans def: "Irregular microscopic structures scattered throughout the pancreas and comprising its endocrine part (the endocrine pancreas). In humans, they are composed of at least four types of cells: the alpha cells, which secrete glucagon; the beta cells, which are the most abundant and secrete insulin; the delta cells, which secrete somatostatin; and the PP cells, which secrete pancreatic polypeptide. Degeneration of the beta cells, whose secretion (insulin) is important in carbohydrate metabolism, is the major cause of type I diabetes mellitus." [] synonym: "island of Langerhans" EXACT [] synonym: "island of pancreas" EXACT [] synonym: "pancreatic islet" EXACT [] xref: BTO:0000991 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000006\nlabel: islet of Langerhans" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000006 [Term] id: EFO:0000857 name: obsolete_pituitary def: "A compound organ which is an endocrine gland located ventral to the diencephalon and derived from mixed neuroectodermal and non neuroectodermal origin." [] def: "A small oval endocrine organ that is attached to the infundibulum of the brain, consists of an epithelial anterior lobe joined by an intermediate part to a posterior lobe of nervous origin, and produces various internal secretions directly or indirectly impinging on most basic body functions." [] synonym: "glandula pituitaria" EXACT [] synonym: "hypophysis" EXACT [] synonym: "Hypophysis cerebri" EXACT [] synonym: "pituitary body" EXACT [] synonym: "Pituitary gland" EXACT [] xref: BTO:0001073 xref: EHDAA:2183 xref: EMAPA:16724 xref: EV:0100132 xref: FMA:13889 xref: MA:0000127 xref: MAT:0000077 xref: SAEL:83 xref: XAO:0000161 xref: ZFA:0000118 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000007\nlabel: pituitary gland" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000007 [Term] id: EFO:0000858 name: obsolete_prostate def: "A firm partly muscular partly glandular body that is situated about the base of the mammalian male urethra and secretes an alkaline viscid fluid which is a major constituent of the ejaculatory fluid." [] def: "Lobular organ the parenchyma of which has as its parts glandular acini which are continuous with the prostatic part of the urethra. Examples: There is only one prostate." [] synonym: "prostate gland" EXACT [] xref: BTO:0001129 xref: EMAPA:19287 xref: EV:0100104 xref: FMA:9600 xref: MA:0000404 xref: MAT:0000078 xref: SAEL:87 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002367\nlabel: prostate gland" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002367 [Term] id: EFO:0000859 name: obsolete_salivary gland def: "A pair of salivary glands is present in the thorax, just above the forelegs and flanking the oesophagus. In both sexes of most species each gland normally consists of three lobes, two lateral and one median." [] def: "Lobular organ the parenchyma of which consists of glandular acini which communicate the oral cavity. Examples: parotid gland, sublingual gland, lingual salivary gland." [] def: "Paired secretory organ connected to the atrium via the salivary duct. It is essentially composed of two cell types: cuboidal epithelial duct cells that form tubes connecting the secretory cells to the larval mouth; and secretory cells that synthesize and secrete high levels of protein (Andrew et al., 2000)." [] def: "The glands of the oral cavity whose combined secretion constitutes the saliva." [] synonym: "adult salivary gland" EXACT [] xref: BTO:0001203 xref: EHDAA:7987 xref: EMAPA:17751 xref: FBbt:00005382 xref: FMA:9597 xref: MA:0000346 xref: MAT:0000079 xref: SAEL:92 xref: TADS:0000119 xref: TGMA:0001804 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001044\nlabel: salivary gland" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001044 [Term] id: EFO:0000860 name: obsolete_thymus def: "A glandular structure of largely lymphoid tissue that functions especially in the development of the body's immune system, is present in the young of most vertebrates typically in the upper anterior chest or at the base of the neck, and tends to atrophy in the adult." [] synonym: "Thymus gland" EXACT [] xref: BTO:0001374 xref: EHDAA:9119 xref: EMAPA:18768 xref: EV:0100138 xref: FMA:9607 xref: MA:0000142 xref: MAT:0000080 xref: MFO:0003240 xref: SAEL:107 xref: TAO:0001078 xref: XAO:0000163 xref: ZFA:0001078 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002370\nlabel: thymus" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002370 [Term] id: EFO:0000861 name: obsolete_thyroid def: "A two-lobed endocrine gland found in all vertebrates, located in front of and on either side of the trachea in humans, and producing various hormones, such as triiodothyronine and calcitonin." [] def: "Lobular organ the parenchyma of which consists of ductless, glandular follicles filled with colloid. Examples: thyroid gland proper, accessory thyroid gland, lingual thyroid gland." [] def: "Portion of tissue formed form thyroid follicle cells that forms along the midline in pharyngeal mesenchyme. The follicles are not encapsulated by connective tissue." [] synonym: "thyroid follicle" EXACT [] synonym: "thyroid follicles" EXACT [] synonym: "thyroid gland" EXACT [] synonym: "thyroid primordium" EXACT [] xref: BTO:0001379 xref: EHDAA:2975 xref: EMAPA:18827 xref: EV:0100133 xref: FMA:9603 xref: MA:0000129 xref: MAT:0000081 xref: SAEL:108 xref: TAO:0001081 xref: XAO:0000162 xref: ZFA:0001072 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002046\nlabel: thyroid gland" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002046 [Term] id: EFO:0000863 name: obsolete_hatching gland def: "A transversely oriented set of cells located deep to the enveloping layer on the pericardial membrane, especially prominent during pharyngula period because of the brightly refractile cytoplasmic granules (containing hatching enzymes) of the principal cells of the gland; The fish hatching gland is a unicellular holocrine gland. Although it has recently been found that the precursors or immature forms of the gland cells considerably migrate in the embryonic body during development (see later), the final location of the hatching gland cells in fish is generally restricted to anterior and/or dorsal regions of a well-grown prehatching embryo. In medaka, the final location is somewhat unique: The giant gland cells are mostly localized in the inner surface of the buccal (or pharyngeal) cavity." [] def: "A transversely oriented set of cells located deep to the EVL on the pericardial membrane, especially prominent during pharyngula period because of the brightly refractile cytoplasmic granules (containing hatching enzymes) of the principal cells of the gland." [] def: "A transversely oriented set of cells located deep to the EVL on the pericardial membrane, especially prominent during pharyngula period because of the brightly refractile cytoplasmic granules (containing hatching enzymes) of the principal cells of the gland. Kimmel et al, 1995." [] synonym: "hgg" EXACT [] xref: BTO:0000558 xref: MAT:0000180 xref: TAO:0000026 xref: ZFA:0000026 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002538\nlabel: hatching gland" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002538 [Term] id: EFO:0000864 name: obsolete_neurohemal organ def: "A system of neurons that has the specialized function to produce and secrete hormones, and that constitutes, in whole or in part, an endocrine organ or system." [] xref: BTO:0002106 xref: TADS:0000245 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001053\nlabel: neurohemal organ" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001053 [Term] id: EFO:0000865 name: obsolete_pineal gland def: "A small, cone-shaped organ in the brain of most vertebrates that secretes the hormone melatonin." [] def: "Circumventricular organ of neuraxis which is shaped like a pine cone and attached on the midline near the posterior and habenular commissures of the epithalamus." [] synonym: "epiphysis cerebri" EXACT [] synonym: "pineal body" EXACT [] synonym: "pineal organ" EXACT [] xref: BTO:0001067 xref: EV:0100131 xref: FMA:62033 xref: MA:0000175 xref: MAT:0000448 xref: MFO:0079940 xref: XAO:0000160 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001905\nlabel:pineal body" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001905 [Term] id: EFO:0000867 name: obsolete_meninges def: "Any of the three membranes that envelop the brain and spinal cord." [] synonym: "meninx" EXACT [] xref: BTO:0000144 xref: EHDAA:3688 xref: EMAPA:17764 xref: EV:0100312 xref: FMA:9589 xref: MA:0000113 xref: MAT:0000113 xref: SAEL:66 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0002360 label : meninx" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002360 [Term] id: EFO:0000868 name: obsolete_bone marrow def: "The soft, fatty, vascular tissue that fills most bone cavities and is the source of red blood cells and many white blood cells." [] synonym: "kidney marrow" EXACT [] synonym: "medulla of bone" EXACT [] synonym: "medulla ossea" EXACT [] synonym: "medulla ossium" EXACT [] xref: BTO:0000141 xref: EV:0100046 xref: FMA:9608 xref: MA:0000134 xref: MAT:0000084 xref: SAEL:11 xref: XAO:0000123 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002371\nlabel: bone marrow" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002371 [Term] id: EFO:0000869 name: obsolete_spleen def: "A highly vascular ductless organ that is located in the left abdominal region near the stomach or intestine of most vertebrates and is concerned with final destruction of red blood cells, filtration and storage of blood, and production of lymphocytes." [] xref: BTO:0001281 xref: EMAPA:18767 xref: EV:0100055 xref: FMA:7196 xref: MA:0000141 xref: MAT:0000085 xref: MFO:0003100 xref: SAEL:101 xref: TAO:0000436 xref: XAO:0000328 xref: ZFA:0000436 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002106\nlabel: spleen" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002106 [Term] id: EFO:0000870 name: obsolete_lymphatic system synonym: "Lymph node" EXACT [] synonym: "lymphatic system" EXACT [] xref: EHDAA:8677 xref: EMAPA:18248 xref: FMA:5034 xref: MA:0000139 xref: MeSH:D008208 xref: NCIt:C12746 xref: SAEL:63 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with UBERON_0006558" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0006558 [Term] id: EFO:0000871 name: obsolete_lymph def: "A clear, watery, sometimes faintly yellowish fluid derived from body tissues that contains white blood cells and circulates throughout the lymphatic system, returning to the venous bloodstream through the thoracic duct. Lymph acts to remove bacteria and certain proteins from the tissues, transport fat from the small intestine, and supply mature lymphocytes to the blood." [] def: "Transudate contained in the lumen of lymphatic vessel." [] xref: BTO:0000855 xref: EV:0100049 xref: FMA:9671 xref: MA:0002520 xref: MAT:0000055 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002391\nlabel: lymph" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002391 [Term] id: EFO:0000872 name: obsolete_lymph node def: "Any of the rounded masses of lymphoid tissue that are surrounded by a capsule of connective tissue, are distributed along the lymphatic vessels, and contain numerous lymphocytes which filter the flow of lymph." [] def: "They are oval or bean shaped bodies (1 - 30 mm in diameter) located along the lymphatic system." [] synonym: "lymph gland" EXACT [] synonym: "Lymph Nodes" EXACT [] synonym: "Node, Lymph" EXACT [] synonym: "Nodes, Lymph" EXACT [] xref: BTO:0000784 xref: EV:0100050 xref: FMA:5034 xref: MA:00000139 xref: MAT:0000442 xref: MeSH:D008198 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000029\nlabel: lymph node" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000029 [Term] id: EFO:0000873 name: obsolete_lymph vessel def: "A network of blunt ended vessels lacking direct connection to the blood vascular system. These vessels collect and drain fluids and macromolecules from interstitial spaces throughout the animal. They derive from a subpopulation of endothelial cells and have walls that are much thinner than the blood carrying vessels. Lymphatic vessels are usually classified as either superficial or deep." [] def: "A vessel that contains or conveys lymph, that originates as an interfibrillar or intercellular cleft or space in a tissue or organ, and that if small has no distinct walls or walls composed only of endothelial cells and if large resembles a vein in structure." [] def: "Segment of lymphatic tree organ, the wall and lumen of which are continuous with those of the veins, directly or indirectly; together with other lymphatic vessels and lymph nodes, it constitutes the lymphatic tree organ. Examples: bronchomediastinal lymph duct, thoracic duct." [] synonym: "lymphatic vessel" EXACT [] xref: BTO:0000752 xref: FMA:30315 xref: MA:0000138 xref: MAT:0000443 xref: TAO:0005105 xref: XAO:0000375 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001473\nlabel: lymphatic vessel" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001473 [Term] id: EFO:0000874 name: obsolete_antenna def: "One of a pair of slender movable segmented sensory organs on the head of insects, myriapods, and crustaceans." [] def: "One of the paired anterior appendicular organs of the insect head." [] def: "Paired, segmented, jointed, sensory appendage attached to the anterior of the head capsule, between the eyes." [] synonym: "adult antenna" EXACT [] synonym: "feeler" EXACT [] xref: BTO:0000074 xref: FBbt:00004511 xref: MAT:0000086 xref: TGMA:0000007 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000972\nlabel: antenna" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000972 [Term] id: EFO:0000875 name: obsolete_fin property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0008897 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0008897 [Term] id: EFO:0000876 name: obsolete_vertebrate limb def: "Cardinal body part, which consists of a maximal set of diverse subclasses of organ and organ part spatially associated with a complete set of bones of the appendicular skeleton, it is partially surrounded by skin of limb. Examples: There are only four instances, right upper and lower limbs and left upper and lower limbs." [] synonym: "Extremity" EXACT [] synonym: "limb" EXACT [] synonym: "limb sensu vertebrata" EXACT [] synonym: "vertebrata limb" EXACT [] xref: EHDAA:1697 xref: EMAPA:16405 xref: EV:0100483 xref: FMA:7182 xref: MA:0000007 xref: MAT:0000090 xref: XAO:0003027 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002101\nlabel: limb" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002101 [Term] id: EFO:0000877 name: obsolete_autopod property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/MA_0002714 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/MA_0002714 [Term] id: EFO:0000878 name: obsolete_zeugopod def: "The middle part of the limb (e.g. between the elbow and wrist)" [] synonym: "middle part of limb" EXACT [] xref: MA:0002716 xref: MAT:0000092 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002471\nLabel: zeugopod" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002471 [Term] id: EFO:0000879 name: obsolete_stylopod def: "The proximal part of the limb (e.g. between shoulder and elbow)" [] synonym: "proximal part of limb" EXACT [] xref: MA:0002717 xref: MAT:0000093 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002472\nlabel: stylopod" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002472 [Term] id: EFO:0000881 name: obsolete_digit synonym: "forelimb digit" EXACT [] synonym: "hindlimb digit" EXACT [] xref: MAT:0000285 xref: SAEL:29 xref: XAO:0003035 xref: XAO:0003036 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002544\nlabel: digit" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002544 [Term] id: EFO:0000882 name: obsolete_forelimb def: "A limb as an arm, wing, fin, or leg that is situated anteriorly." [] synonym: "anterior limb" EXACT [] synonym: "Fore limb" EXACT [] synonym: "Superior member" EXACT [] synonym: "Upper extremity" EXACT [] synonym: "upper limb" EXACT [] xref: BTO:0001729 xref: EHDAA:6208 xref: EMAPA:17412 xref: EV:0100014 xref: FMA:7183 xref: MA:0000025 xref: MAT:0000394 xref: SAEL:42 xref: XAO:0003030 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002102\nlabel: forelimb" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002102 [Term] id: EFO:0000883 name: obsolete_hindlimb def: "Either of two extremities of four-footed non-primate land animals. It usually consists of a femur, tibia and fibula, tarsals, metatarsals, and toes." [] synonym: "Hind limb" EXACT [] synonym: "inferior member" EXACT [] synonym: "Lower extremity" EXACT [] synonym: "lower limb" EXACT [] xref: BTO:0002345 xref: EHDAA:6094 xref: EMAPA:17458 xref: EV:0100015 xref: FMA:7184 xref: MA:0000026 xref: MAT:0000395 xref: SAEL:49 xref: XAO:0003031 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002103\nlabel: hindlimb" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002103 [Term] id: EFO:0000884 name: invertebrate limb def: "In animals, one of the paired appendages ordinarily used in locomotion and support. In insects, applied only to the three pairs of thoracic legs; in most insects, composed of the coxa, trochanter, femur, tibia, tarsus and posttarsus." [] def: "The walking appendages of each segment of the ventral adult external thorax." [] synonym: "adult leg" EXACT [] synonym: "invertebrata limb" EXACT [] synonym: "leg" EXACT [] synonym: "limb sensu invertebrata" EXACT [] xref: FBbt:00004640 xref: MAT:0000095 xref: MeSH:D007866 xref: NCIt:C32974 xref: TADS:0000002 xref: TGMA:0000164 is_a: UBERON:0000026 ! appendage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000885 name: obsolete_wing def: "1: One of the movable feathered or membranous paired appendages by means of which a bird, bat, or insect is able to fly; also: such an appendage even though rudimentary if possessed by an animal belonging to a group characterized by the power of flight.n2: Any of various anatomical structures especially of a flying fish or flying lemur providing means of limited flight." [] def: "A flight organ of the adult external thorax that is derived from a dorsal mesothoracic disc." [] def: "In adult pterygotous insects, one of the paired organs of flight occurring on the mesothoracic segment." [] def: "In adult pterygotous insects, the paired organs of flight occurring on the metathoracic segment. In Diptera, the metathoracic wings are represented by the halteres." [] synonym: "adult mesothoracic wing" EXACT [] synonym: "adult metathoracic wing" EXACT [] xref: BTO:0001463 xref: FBbt:00004729 xref: MAT:0000202 xref: TGMA:0000196 xref: TGMA:0000197 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000023\nlabel: wing" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000023 [Term] id: EFO:0000886 name: obsolete_haltere def: "Paired dorsal 'appendage' of the adult mesothoracic segment. It is a freely movable, capitate stalk. It develops from the dorsal mesothoracic disc. It is used for flight balance." [] synonym: "balancer organ" EXACT [] xref: FBbt:00004783 xref: MAT:0000203 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000987\nlabel: haltere" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000987 [Term] id: EFO:0000887 name: obsolete_liver def: "1: A large very vascular glandular organ of vertebrates that secretes bile and causes important changes in many of the substances contained in the blood (as by converting sugars into glycogen which it stores up until required and by forming urea).n2: Any of various large compound glands associated with the digestive tract of invertebrate animals and probably concerned with the secretion of digestive enzymes." [] def: "Lobular organ which has as its parts lobules connected to the biliary tree. Examples: There is only one liver." [] xref: BTO:0000759 xref: EHDAA:2197 xref: EMAPA:16846 xref: EV:0100089 xref: FMA:7197 xref: MA:0000358 xref: MAT:0000097 xref: MFO:0003060 xref: TAO:0000123 xref: XAO:0000133 xref: ZFA:0000123 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002107\nlabel: liver" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002107 [Term] id: EFO:0000889 name: smooth muscle def: "Muscle tissue that lacks cross striations, that is made up of elongated spindle-shaped cells having a central nucleus, and that is found in vertebrate visceral structures (as the stomach and bladder) as thin sheets performing functions not subject to conscious control by the mind and in all or most of the musculature of invertebrates other than arthropods." [] def: "Visceral muscle of the adult." [] synonym: "adult visceral muscle" EXACT [] xref: BTO:0001260 xref: EV:0100378 xref: FBbt:00003525 xref: MAT:0000303 xref: SAEL:97 xref: XAO:0000175 is_a: UBERON:0001015 ! musculature property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0000890 name: invertebrate ganglion def: "Any of a number of aggregations of neurons, glial cells and their processes, and surrounded by a glial cell and connective tissue sheath (plural: ganglia)." [] def: "Any of a number of aggregations of neurons, glial cells and their processes, surrounded by a glial cell and connective tissue sheath (plural: ganglia)." [] xref: FBbt:00005137 xref: MAT:0000207 is_a: UBERON:0000045 ! ganglion property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000891 name: obsolete_peripheral nervous system def: "The outer parts of the nervous system that perform sensory and motor functions." [] def: "The peripheral nervous system (PNS) connects the central nervous system (CNS) to sensory organs (such as the eye and ear), other organs of the body, muscles, blood vessels and glands." [] synonym: "PNS" EXACT [] xref: AAO:0000429 xref: BTO:0001028 xref: EHDAA:2893 xref: EMAPA:16665 xref: FBbt:00005098 xref: MAT:0000338 xref: TADS:0000221 xref: XAO:0000178 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000010\nlabel: peripheral nervous system" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000010 [Term] id: EFO:0000893 name: obsolete_sympathetic nervous system def: "Nervous structures including ganglia outside of the central nervous system." [] def: "One of the two divisions of the vertebrate autonomic nervous system (the other being the parasympathetic nervous system). The sympathetic preganglionic neurons have their cell bodies in the thoracic and lumbar regions of the spinal cord, and connect to the paravertebral chain of sympathetic ganglia. Innervate heart and blood vessels, sweat glands, viscera, and the adrenal medulla. Most sympathetic neurons, but not all, use noradrenaline as a post-ganglionic neurotransmitter." [] synonym: "PNS - sympathetic" EXACT [] synonym: "sympathetic chain" EXACT [] synonym: "sympathetic part of autonomic division of nervous system" EXACT [] xref: BTO:0001832 xref: EHDAA:3769 xref: EMAPA:16985 xref: EV:0100374 xref: FMA:9906 xref: MA:0000225 xref: MAT:0000100 xref: TAO:0001576 xref: XAO:0000211 xref: ZFA:0000142 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000013\nlabel: sympathetic nervous system" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000013 [Term] id: EFO:0000894 name: obsolete_parasympathetic nervous system def: "Nervous structures including ganglia outside of the central nervous system." [] def: "One of the two divisions of the vertebrate autonomic nervous sytem. Parasympathetic nerves emerge cranially as pre-ganglionic fibres from oculomotor, facial, glossopharyngeal and vagus, and from the sacral region of the spinal cord. Most neurons are cholinergic and responses are mediated by muscarinic acetylcholine receptors. The parasympathetic system innervates, for example, salivary glands, thoracic and abdominal viscera, bladder and genitalia." [] synonym: "Parasympathetic part of autonomic division of nervous system" EXACT [] synonym: "PNS - parasympathetic" EXACT [] xref: BTO:0001833 xref: EHDAA:4655 xref: EMAPA:17270 xref: FMA:9907 xref: MA:0000223 xref: MAT:0000101 xref: TAO:0001575 xref: ZFA:0000142 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000011\nlabel: parasympathetic nervous system" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000011 [Term] id: EFO:0000895 name: obsolete_enteric nervous system def: "Two ganglionated neural plexuses in the gut wall which form one of the three major divisions of the autonomic nervous system. The enteric nervous system innervates the gastrointestinal tract, the pancreas, and the gallbladder. It contains sensory neurons, interneurons, and motor neurons. Thus the circuitry can autonomously sense the tension and the chemical environment in the gut and regulate blood vessel tone, motility, secretions, and fluid transport. The system is itself governed by the central nervous system and receives both parasympathetic and sympathetic innervation." [] synonym: "enteric PNS" EXACT [] synonym: "PNS - enteric" EXACT [] xref: BTO:0002506 xref: FMA:66070 xref: MA:0000222 xref: MAT:0000102 xref: NIFSTD:birnlex_1166 xref: TAO:0001155 xref: ZFA:0001155 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002005\nlabel: enteric nervous system" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002005 [Term] id: EFO:0000896 name: obsolete_ventral nerve cord def: "The pair of closely united ventral longitudinal nerves with their segmental ganglia that is characteristic of many elongate invertebrates (as earthworms)." [] synonym: "larval ventral ganglion" EXACT [] synonym: "subesophageal + T1 + T2 + T3 + A1 + A2 + A3 + A4 + A5 + A6 + A7 + A8 ganglia" EXACT [] synonym: "ventral cord" EXACT [] synonym: "vnc" EXACT [] xref: BTO:0002328 xref: FBbt:00001102 xref: MAT:0000339 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000934\nlabel: ventral nerve cord" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000934 [Term] id: EFO:0000897 name: pharyngeal nervous system xref: MAT:0000341 xref: WBbt:0005440 is_a: UBERON:0001017 ! central nervous system property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000898 name: obsolete_somatic nervous system xref: MAT:0000342 xref: WBbt:0005760 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.8" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate use EFO_0000892" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "OntologyMappingImporter following MAT:0000342" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000892 [Term] id: EFO:0000899 name: obsolete_ganglion def: "A group of nerve cell bodies located outside the central nervous system. The term is occasionally applied to certain nuclear groups within the brain or spinal cord, such as the basal ganglia." [] def: "Structures containing a collection of nerve cell bodies. (Source: BioGlossary, www.Biology-Text.com)" [] synonym: "ganglia" EXACT [] synonym: "neural ganglion" EXACT [] xref: BTO:0000497 xref: EHDAA:918 xref: EMAPA:16658 xref: MAT:0000343 xref: TAO:0000190 xref: XAO:0000209 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000045\nlabel: ganglion" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000045 [Term] id: EFO:0000900 name: obsolete_dorsal root ganglion def: "Trunk ganglion which is located adjacent to the spine on a dorsal root and contains the cell bodies of afferent sensory nerves." [] synonym: "dorsal root ganglia" EXACT [] synonym: "DRG" EXACT [] synonym: "Ganglion spinalis" EXACT [] synonym: "spinal ganglion" EXACT [] xref: EHDAA:2899 xref: EMAPA:16668 xref: EMAPA:18372 xref: EVM:2000213 xref: FMA:5888 xref: MA:0000232 xref: MAT:0000162 xref: NIFSTD:birnlex_2596 xref: SAEL:30 xref: TAO:0000200 xref: WBbt:0005189 xref: ZFA:0000200 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000044\nlabel: dorsal root ganglion" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000044 [Term] id: EFO:0000901 name: obsolete_body ganglion property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0007134 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0007134 [Term] id: EFO:0000902 name: obsolete_cranial ganglion synonym: "cranial ganglia" EXACT [] synonym: "head ganglion" EXACT [] xref: BTO:0000106 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2,38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001714\nlabel: cranial ganglion" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001714 [Term] id: EFO:0000903 name: obsolete_trigeminal ganglion def: "A ganglion on the sensory root of the fifth cranial nerve, situated in a cleft within the dura mater (trigeminal cave) on the anterior surface of the petrous portion of the temporal bone, and giving off the ophthalmic and maxillary and part of the mandibular nerve; it contains the cells of origin of most of the sensory fibers of the trigeminal nerve." [] def: "A prominent collection of touch-sensory neurons of the trigeminal or fifth cranial nerve, positioned beside the brain between the eye and the ear. Kimmel et al, 1995." [] synonym: "ganglion of trigeminal nerve" EXACT [] synonym: "ganglion trigeminale" EXACT [] synonym: "Gasser's ganglion" EXACT [] synonym: "gasserian ganglion" EXACT [] synonym: "gV" EXACT [] synonym: "Semilunar ganglion" EXACT [] xref: BTO:0001231 xref: EV:0100491 xref: FMA:52618 xref: MA:0001080 xref: MAT:0000511 xref: TAO:0000295 xref: XAO:0000428 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001675\nlabel: trigeminal ganglion" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001675 [Term] id: EFO:0000904 name: obsolete_basal ganglion def: "Any of four deeply placed masses of gray matter (as the amygdala) in each cerebral hemisphere. Location: The basal ganglion is located deep within the cerebral hemispheres in the telencephalon region of the brain. It consists of the corpus stratium, subthalamic nucleus and the substantia nigra." [] def: "Subcortical masses of gray matter in the forebrain and midbrain that are richly interconnected and so viewed as a functional system. The nuclei usually included are the caudate nucleus (caudoputamen in rodents), putamen, globus pallidus, substantia nigra (pars compacta and pars reticulata) and the subthalamic nucleus. Some also include the nucleus accumbens and ventral pallidum." [] synonym: "Basal ganglia" EXACT [] synonym: "Basal ganglia set" EXACT [] synonym: "basal nucleus\\]" EXACT [] synonym: "Set of basal ganglia" EXACT [] synonym: "Set of basal nuclei" EXACT [] xref: BTO:0000235 xref: FMA:84013 xref: MA:0000184 xref: MAT:0000450 xref: NIFSTD:birnlex_826 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002420\nlabel: basal ganglion" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002420 [Term] id: EFO:0000905 name: obsolete_globus pallidus def: "Nucleus of brain which is located medially to the putamen and laterally to the internal capsule." [] def: "Subcortical nucleus, functionally part of the basal ganglia, which consists of two segments the external (or lateral) and internal (or medial) separated by the medial medullary lamina in primates. In rodents, The globus pallidus lateral is separated from the medial segment by the fibers of the internal capsule/cerebral peduncle." [] def: "The smaller and more medial part of the lentiform nucleus of the brain, separated from the putamen by the lateral medullary lamina. In official anatomic nomenclature, it is divided by the medial medullary lamina into two parts, lateral and medial, both of which have extensive connections with the corpus striatum, thalamus, and mesencephalon." [] def: "The smaller and more medial part of the lentiform nucleus of the brain, separated from the putamen by the lateral medullary lamina. In official anatomic nomenclature, it is divided by the medial medullary lamina into two parts, lateral and medial, both of which have extensive connections with the corpus striatum, thalamus, and mesencephalon.nThe paleostriatum is the phylogenetically older part of the corpus striatum represented by the globus pallidus." [] synonym: "Pale Body" EXACT [] synonym: "paleostriatum" EXACT [] synonym: "pallidum" EXACT [] xref: BTO:0002246 xref: EV:0100188 xref: FMA:61835 xref: MA:0000890 xref: MAT:0000510 xref: NIFSTD:birnlex_1234 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001875\nlabel: globus pallidus" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001875 [Term] id: EFO:0000906 name: obsolete_accumbens nucleus def: "A nucleus composed of neurons in the forebrain." [] def: "A nucleus forming the floor of the caudal part of the anterior prolongation of the lateral ventricle of the brain." [] synonym: "colliculus of caudate nucleus" EXACT [] synonym: "Nucleus accumbens" EXACT [] synonym: "nucleus accumbens septi" EXACT [] synonym: "nucleus accumbens whole" EXACT [] xref: BTO:0001862 xref: FMA:61889 xref: MA:0000892 xref: MAT:0000512 xref: NCIt:C52733 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001882\nlabel: nucleus accumbens" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001882 [Term] id: EFO:0000907 name: obsolete_caudate nucleus def: "An elongated gray mass of the neostriatum located adjacent to the lateral ventricle of the brain. (MeSH)" [] def: "Nucleus of brain which is an elongated crescent-shaped mass lying parallel and adjacent to the lateral ventricle throughout its extent." [] def: "One of the centrally-located portions of the brain affected by Huntington's Disease. Speech and swallowing problems arise when this region and another region called the putamen are affected." [] def: "Subcortical nucleus of telecephalic origin consisting of an elongated gray mass lying lateral to and bordering the lateral ventricle. It is divided into a head, body and tail in some species." [] synonym: "Caudatus" EXACT [] synonym: "Nucleus Caudatus" EXACT [] xref: BTO:0000211 xref: EMAPA:18207 xref: EV:0100185 xref: FMA:61833 xref: MA:0000893 xref: MAT:0000513 xref: MeSH:D002421 xref: NCIt:C12451 xref: NIFSTD:birnlex_1373 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001873\nlabel: caudate nucleus" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001873 [Term] id: EFO:0000908 name: obsolete_central nervous system def: "Organ with organ cavity which consists of gray matter and white matter. Examples: There is only one neuraxis." [] def: "The brain and spinal cord." [] def: "The brain and spinal cord. Kimmel et al, 1995." [] def: "The central nervous system is that part of the nervous system that consists of the brain and spinal cord. The central nervous system (CNS) is one of the two major divisions of the nervous system. The other is the peripheral nervous system (PNS) which is outside the brain and spinal cord." [] synonym: "cerebrospinal axis" EXACT [] synonym: "CNS" EXACT [] synonym: "Neuraxis" EXACT [] xref: BTO:0000227 xref: EHDAA:828 xref: EMAPA:16470 xref: EV:0100163 xref: FMA:55675 xref: MA:0000167 xref: MAT:0000457 xref: NIFSTD:birnlex_1099 xref: TAO:0000012 xref: ZFA:0000012 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001017\nlabel: central nervous system" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001017 [Term] id: EFO:0000909 name: obsolete_forebrain def: "Organ component of neuraxis that has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. Examples: There is only one forebrain." [] def: "The anterior of the three primary divisions of the developing vertebrate brain or the corresponding part of the adult brain that includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and that especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions." [] def: "The most anterior region the brain including both the telencephalon and diencephalon." [] def: "The most anterior region the brain including both the telencephalon and diencephalon. Kimmel et al, 1995." [] synonym: "prosencephalon" EXACT [] xref: BTO:0000478 xref: EHDAA:3470 xref: EMAPA:16895 xref: FMA:61992 xref: MA:0000170 xref: MAT:0000105 xref: MFO:0002260 xref: NIFSTD:birnlex_1509 xref: SAEL:43 xref: TAO:0000109 xref: XAO:0000011 xref: ZFA:0000109 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001890\nlabel: forebrain" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001890 [Term] id: EFO:0000910 name: obsolete_thalamus def: "Multi-tissue structure that is paired, and is situated one on either side of and forming part of the lateral wall of the third ventricle." [] def: "The largest subdivision of the diencephalon that consists chiefly of an ovoid mass of nuclei in each lateral wall of the third ventricle and functions in the integration of sensory information." [] synonym: "dorsal thalamus" EXACT [] synonym: "Dorsal thalamus (Anthoney)" EXACT [] synonym: "future thalamus" EXACT [] synonym: "thalami" EXACT [] synonym: "thalamus dorsalis" EXACT [] xref: BTO:0001365 xref: EHDAA:3482 xref: EMAPA:17540 xref: EV:0100195 xref: FMA:62007 xref: MA:0000179 xref: MAT:0000109 xref: NIFSTD:birnlex_954 xref: SAEL:105 xref: TAO:0001215 xref: ZFA:0001215 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001897\nlabel: thalamus" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001897 [Term] id: EFO:0000911 name: obsolete_diencephalon def: "Organ component of neuraxis that has as its parts the epithalamus, thalamus, hypothalamus, subthalamus. There is only one diencephalon." [] def: "The more posterior and ventral of two forebrain neuromeres, the other being the telencephalon; major derivatives are the eye cups, the brain pretectal region, the thalamus, hypothalamus, and epithalamus (including the habenula and epiphysis)." [] def: "The more posterior and ventral of two forebrain neuromeres, the other being the telencephalon; major derivatives are the eye cups, the brain pretectal region, the thalamus, hypothalamus, and epithalamus (including the habenula and epiphysis). Kimmel et al, 1995." [] def: "The posterior subdivision of the forebrain." [] synonym: "Between brain" EXACT [] synonym: "betweenbrain" EXACT [] synonym: "interbrain" EXACT [] synonym: "Mature diencephalon" EXACT [] xref: BTO:0000342 xref: EHDAA:3472 xref: EMAPA:16896 xref: FMA:62001 xref: MA:0000171 xref: MAT:0000420 xref: MFO:0002280 xref: NIFSTD:birnlex_1503 xref: TAO:0000101 xref: XAO:0000013 xref: ZFA:0000101 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0001894\nlabel: diencephalon" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001894 [Term] id: EFO:0000912 name: obsolete_telencephalon def: "An enlarged anterior or upper part of the brain; especially: the expanded anterior portion of the brain that in higher mammals overlies the rest of the brain, consists of cerebral hemispheres and connecting structures, and is considered to be the seat of conscious mental processes." [] def: "The anterior and dorsal forebrain neuromere, includes the olfactory bulb. Kimmel et al, 1995." [] def: "The anterior and dorsal forebrain neuromere. In ray-finned fishes and most pronounced in teleosts the roof plate of the embryonic telencephalon extends laterally with the effect that the paired alar plates forming the hemispheric walls roll out lateroventrally in a process called eversion. This is unlike the development in other vertebrate groups. From Neuroanatomy of the Zebrafish Brain." [] def: "The telencephalon is the name for a large region within the brain that is attributed many functions. Many people refer to it as the cerebrum; however, it is technically referred to as the telencephalon. As a more technical definition, the telencephalon refers to the cerebral hemispheres and other, smaller structures within the brain, although the telencephalon is one of the larger divisions (in terms of number). It is the anterior-most embryological division of the brain that develops from the prosencephalon. The telencephalon is composed of the following sub-regions; Limbic system; Cerebral cortex or cortices of the cerebral hemispheres, Basal ganglia, Olfactory bulb. The telencephalon comprises what most people think of as the \"brain.\" It lies on top of the brainstem and is the largest and most well-developed of the five major divisions of the brain. The telencephalon is the newest structure in the phylogenetic sense, with mammals having the largest and most well-developed among all species. It emerges from the prosencephalon, the first of three vesicles that form from the embryonic neural tube (Christine Fennema-Notestine)." [] synonym: "cerebrum" EXACT [] synonym: "Communicating branch of phrenic nerve to internal thoracic plexus" EXACT [] xref: BTO:0000239 xref: EHDAA:3496 xref: EMAPA:16910 xref: FMA:6200 xref: MA:0000183 xref: MAT:0000421 xref: MeSH:D013687 xref: MeSH:D054022 xref: MFO:0002300 xref: NIFSTD:birnlex_1115 xref: TAO:0000079 xref: XAO:0000012 xref: ZFA:0000079 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001893\nlabel: telencephalon" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001893 [Term] id: EFO:0000913 name: obsolete_frontal lobe def: "Anterior portion of the frontal cortex, lying anterior to the central sulcus in humans. It is bounded by the parietal cortex posteriorly and the temporal cortex laterally." [] def: "Front part of the brain; involved in planning, organizing, problem solving, selective attention, personality and a variety of higher cognitive functions including behavior and emotions." [] def: "Frontal lobe is the anterior-most of five lobes of the cerebral hemisphere. It is bounded by the central sulcus on its posterior border and by the longitudinal cerebral fissure on its medial border." [] def: "higher cognitive functions" [] synonym: "frontal cortex" EXACT [] synonym: "Frontal region" EXACT [] xref: BTO:0000484 xref: EV:0100167 xref: FMA:61824 xref: MAT:0000505 xref: NIFSTD:birnlex_928 xref: NIFSTD:nlx_anat_20090601 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001870\nlabel: frontal cortex" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001870 [Term] id: EFO:0000914 name: obsolete_parietal lobe def: "Parietal lobe is the one of five lobes of the cerebral hemisphere which occupies the dorsal-posterior portion of the hemisphere. It is bounded by the central sulcus on its anterior border and and by the longitudinal cerebral fissure on its medial border. Posteriorly it shares an arbitrary border with the occipital lobe." [] def: "The upper central lobe of the cerebral hemisphere, separated from the temporal lobe below by the lateral sulcus, but continuous at the posterior end of that sulcus, and separated from the frontal lobe by the central sulcus. Behind, it is continuous with the occipital lobe on the lateral surface, but separated from it by the parietooccipital sulcus on the medial surface." [] synonym: "Parietal cortex" EXACT [] synonym: "Parietal region" EXACT [] xref: BTO:0001001 xref: EV:0100166 xref: FMA:61826 xref: MAT:0000506 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001872\nlabel: parietal lobe" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001872 [Term] id: EFO:0000915 name: obsolete_occipital lobe def: "Occipital lobe is the one of five lobes of the cerebral hemisphere which occupies the posterior-most portion of the hemisphere. Anteriorly, it shares an arbitrary border with the parietal lobe and temporal lobe. Medially, it is bounded by the longitudinal cerebral fissure." [] def: "This lobe is located at the back of the head and is involved in vision and reading." [] synonym: "Occipital cortex" EXACT [] synonym: "Occipital region" EXACT [] xref: BTO:0000293 xref: EV:0100170 xref: FMA:67325 xref: MAT:0000507 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002021\nlabel: occipital lobe" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002021 [Term] id: EFO:0000916 name: obsolete_visual cortex def: "The area of the occipital lobe of the cerebral cortex concerned with vision; it consists of the first visual area or striate c. (Brodmann's area 17) and two other areas, the second visual area or parastriate area (Brodmann's area 18) and the third visual area or peristriate area (Brodmann's area 19)." [] def: "The area of the occipital lobe of the cerebral cortex concerned with vision; it consists of the first visual area or striate cortex (Brodmann's area 17) and two other areas, the second visual area or parastriate area (Brodmann's area 18) and the third visual area or peristriate area (Brodmann's area 19)." [] synonym: "Primary visual cortex" EXACT [] synonym: "striate cortex" EXACT [] xref: BTO:0001857 xref: EV:0100469 xref: FMA:236871 xref: MA:0000914 xref: MAT:0000509 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000411\nlabel: visual cortex" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000411 [Term] id: EFO:0000917 name: obsolete_temporal lobe def: "One of the two parietal lobes of the brain located behind the frontal lobe at the top of the brain. Parietal Lobe, Right - Damage to this area can cause visuo-spatial deficits (e.g., the patient may have difficulty finding their way around new, or even familiar, places). Parietal Lobe, Left - Damage to this area may disrupt a patient's ability to understand spoken and/or written language. The parietal lobes contain the primary sensory cortex which controls sensation (touch, pressure). Behind the primary sensory cortex is a large association area that controls fine sensation (judgment of texture, weight, size, shape)." [] def: "One of the two parietal lobes of the brain located behind the frontal lobe at the top of the brain. Parietal Lobe, Right - Damage to this area can cause visuo-spatial deficits (for example, the patient may have difficulty finding their way around new, or even familiar, places). Parietal Lobe, Left - Damage to this area may disrupt a patient's ability to understand spoken and/or written language. The parietal lobes contain the primary sensory cortex which controls sensation (touch, pressure). Behind the primary sensory cortex is a large association area that controls fine sensation (judgment of texture, weight, size, shape)." [] def: "Temporal lobe is the ventrolateral lobe of five lobes comprising each cerebral hemisphere. It is bounded dorsally by the lateral fissure and posteriorly by an arbitrary border shared with the occipital lobe." [] synonym: "Temporal cortex" EXACT [] xref: BTO:0001355 xref: EMAPA:18797 xref: EV:0100169 xref: FMA:61825 xref: MAT:0000508 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001871\nlabel: temporal lobe" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001871 [Term] id: EFO:0000918 name: obsolete_epithalamus def: "Brain structure which is part of the diencephalon and consists of the dorsal and ventral nuclei of the habenula, and two dorsal outgrowths, the epiphysis and the saccus dorsalis. From Neuroanatomy of the Zebrafish Brain." [] def: "The caudal part of the roof and the adjoining lateral walls of the third ventricle of the diencephalon, comprising the habenular nuclei and their commissure, pineal body, and commissure of the epithalamus." [] xref: BTO:0000175 xref: EHDAA:5433 xref: EMAPA:17532 xref: FMA:62009 xref: MA:0000172 xref: MAT:0000422 xref: MFO:0079980 xref: NIFSTD:birnlex_1710 xref: TAO:0000509 xref: ZFA:0000509 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001899\nlabel epithalamus" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001899 [Term] id: EFO:0000919 name: obsolete_midbrain def: "Organ component of neuraxis that has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct. Examples: There is only one midbrain." [] def: "The brain region between the forebrain anteriorly and the hindbrain posteriorly, including the tectum dorsally and the midbrain tegmentum ventrally." [] def: "The brain region between the forebrain anteriorly and the hindbrain posteriorly, including the tectum dorsally and the midbrain tegmentum ventrally. Kimmel et al, 1995." [] def: "The middle of the three primary divisions of the developing vertebrate brain or the corresponding part of the adult brain." [] synonym: "mesencephalon" EXACT [] xref: BTO:0000138 xref: EHDAA:3694 xref: EMAPA:16974 xref: EV:0100242 xref: FMA:61993 xref: MA:0000207 xref: MAT:0000106 xref: MFO:0002420 xref: NIFSTD:birnlex_1667 xref: SAEL:68 xref: TAO:0000128 xref: XAO:0000014 xref: ZFA:0000128 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001891\nlabel: midbrain" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001891 [Term] id: EFO:0000920 name: obsolete_tectum def: "Multi-tissue structure that is the dorsal part of the midbrain and develops from the alar plate and is the most complex layered structure in the zebrafish brain." [] def: "The dorsal part of the midbrain including the corpora quadrigemina." [] synonym: "dorsal midbrain" EXACT [] synonym: "mesencephalic tectum" EXACT [] synonym: "Midbrain tectum" EXACT [] synonym: "Neuraxis tectum" EXACT [] synonym: "optic tectum" EXACT [] synonym: "tectal lobe" EXACT [] synonym: "tectum mesencephali" EXACT [] synonym: "tectum opticum" EXACT [] xref: BTO:0001793 xref: EMAPA:19051 xref: FMA:83902 xref: MA:0000211 xref: MAT:0000451 xref: MFO:0080060 xref: TAO:0001353 xref: ZFA:0001353 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0002314 label : midbrain tectum" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002314 [Term] id: EFO:0000921 name: obsolete_tegmentum property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0024151 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0024151 [Term] id: EFO:0000922 name: obsolete_substantia nigra def: "Subdivision of the midbrain anterior to the midbrain tegmentum which contains darkly pigmented neurons." [] def: "The substantia nigra is located in the mesencephalon (mid brain) region of the brain. It is part of the basal ganglia." [] synonym: "Nucleus of basis pedunculi" EXACT [] synonym: "Soemmering's substance" EXACT [] xref: BTO:0000143 xref: EV:0100247 xref: FMA:67947 xref: MA:0000210 xref: MAT:0000504 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002038\nlabel: substantia nigra" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002038 [Term] id: EFO:0000923 name: obsolete_hindbrain def: "Organ component of neuraxis that has as its parts the pons, cerebellum and medulla oblongata . Examples: There is only one hindbrain." [] def: "The most posterior of the three principal regions of the brain, forming the rhombencephalon and all or most of the metencephalon. Kimmel et al, 1995." [] def: "The most posterior of the three principal regions of the brain. In mammals and birds the hindbrain is divided into a rostral metencephalon and a caudal myelencephalon. In zebrafish, with the exception of the cerebellum, the ventral remainder of the metencephalon can be separated only arbitrarily from the more caudal myelencephalic portion of the medulla oblongata and thus these are not distinguished here. From Neuroanatomy of the Zebrafish Brain." [] def: "The posterior of the three primary divisions of the developing vertebrate brain or the corresponding part of the adult brain that includes the cerebellum, the medulla oblongata, and in mammals the pons and that controls autonomic functions and equilibrium." [] synonym: "rhombencephalon" EXACT [] xref: BTO:0000672 xref: EHDAA:3514 xref: EMAPA:16916 xref: FMA:67687 xref: MA:0000195 xref: MAT:0000107 xref: MFO:0002340 xref: NIFSTD:birnlex_942 xref: SAEL:50 xref: TAO:0000029 xref: XAO:0000015 xref: ZFA:0000029 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002028\nlabel: hindbrain" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002028 [Term] id: EFO:0000924 name: obsolete_medulla oblongata def: "Brain structure that is located ventrocaudal to the cerebellum and just anterior to the spinal cord and contains the sensory and motor nuclei of six cranial nerves. In zebrafish, with the exception of the cerebellum, the ventral remainder of the metencephalon can be separated only arbitrarily from the more caudal myelencephalic portion of the medulla oblongata and thus these are not distinguished here." [] def: "Organ component of neuraxis that has as its parts the medullary reticular formation, inferior olivary complex and cochlear nuclear complex, among other structures. Examples: There is only one medulla oblongata." [] def: "The part of the vertebrate brain that is continuous posteriorly with the spinal cord and that contains the centers controlling involuntary vital functions." [] synonym: "Bulb" EXACT [] synonym: "medulla" EXACT [] synonym: "medulla oblonmgata" EXACT [] synonym: "Metepencephalon" EXACT [] synonym: "myelencephalon" EXACT [] xref: BTO:0000041 xref: EHDAA:7588 xref: EMAPA:17550 xref: EV:0100275 xref: FMA:62004 xref: MA:0000206 xref: MAT:0000111 xref: NIFSTD:birnlex_957 xref: SAEL:13 xref: SAEL:65 xref: TAO:0000545 xref: ZFA:0000545 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001896\nlabel: medulla oblongata" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001896 [Term] id: EFO:0000925 name: obsolete_mushroom body def: "Bilaterally paired neuropil structure situated postero-dorsally in the protocerebrum that functions in olfactory associative learning and memory. The mushroom body is divided into: the calyx, which is closest to the cortex and receives sensory interneuron afferents; the pedunculus, which is a thick axon bundle extending from the calyx to the base of the lobes; and the mushroom body lobe system, which consists of a vertical branch composed of two intertwined lobes (alpha and alpha') and a medial branch consisting of three parallel lobes (beta, beta' and gamma)." [] def: "Bilaterally paired neuropil structure situated postero-dorsally in the protocerebrum that functions in olfactory associative learning and memory. The mushroom body is divided into: the calyx, which is closest to the cortex and receives sensory interneuron afferents; the pedunculus, which is a thick axon bundle extending from the calyx to the base of the lobes; the mushroom body lobe system, which consists of a vertical branch composed of two intertwined lobes (alpha and alpha') and a medial branch consisting of three parallel lobes (beta, beta' and gamma)." [] def: "Paired neuropil structure situated postero-dorsally in the protocerebrum, which are thought to be crucial to olfactory associative learning and memory. The mushroom body is divided into: the calyx, which is closest to the cortex and receives sensory interneuron afferents; the pedunculus, which is a thick axon bundle extending from the calyx to the base of the lobes; the mushroom body lobe system, which consists of a vertical branch composed of two intertwined lobes (alpha and alpha') and a medial branch consisting of three parallel lobes (beta, beta' and gamma)." [] def: "Paired neuropil structure, situated postero-dorsally in the protocerebrum, which are thought to be crucial to olfactory associative learning and memory. Mushroom bodies are divided into: the calyx, closest to the cortex, which receives sensory interneuron afferents; a thick axon bundle called the pedunculus, which extends from the calyx to the base of the lobes; the mushroom body lobe system consisting of a vertical branch composed of two intertwined lobes (alpha and alpha') and a medial branch consisting of three parallel lobes (beta, beta' and gamma)." [] def: "The Drosophila mushroom bodies (MBs), paired brain structures composed of vertical and medial lobes, achieve their final organization at metamorphosis." [] synonym: "corpora pedunculata" EXACT [] xref: BTO:0002675 xref: FBbt:00005801 xref: MAT:0000336 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001058\nlabel: mushroom body" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001058 [Term] id: EFO:0000926 name: obsolete_pars intercerebralis def: "A medial cleft or depression dividing the left and right protocerebrum and containing numerous large and small somata of neurosecretory and neuromodulatory neurons." [] def: "Region of the cortex that lies in a medial cleft dividing the left and right protocerebrum. It contains numerous large and small somata of neurosecretory and neuromodulatory neurons." [] xref: FBbt:00005802 xref: MAT:0000337 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001059\nlabel: pars intercerebralis" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001059 [Term] id: EFO:0000927 name: obsolete_pronephros def: "1. The primordial kidney; a vestigial excretory structure or its rudiments developing in the embryo at four weeks, before the mesonephros. Although nonfunctional, its duct is later used by the mesonephros, which arises caudal to it.n2. The definitive excretory organ of primitive fishes." [] def: "The embryonic kidney, present at the level of the third somite, is composed of two glomeruli fused at the midline, two pronephric tubules, and paired bilateral pronephric ducts that modify the composition of the blood filtrate before delivering it to the cloaca for excretion." [] def: "The embryonic kidney, present at the level of the third somite, is composed of two glomeruli fused at the midline, two pronephric tubules, and paired bilateral pronephric ducts that modify the composition of the blood filtrate before delivering it to the cloaca for excretion.Kimmel et al, 1995." [] def: "The first kidney is all vertebrates - it is transitional and disappears soon after it has formed." [] synonym: "anterior kidney" EXACT [] synonym: "archinephron" EXACT [] synonym: "embryonic kidney" EXACT [] synonym: "head kidney" EXACT [] synonym: "pronephric nephron" EXACT [] synonym: "pronephron" EXACT [] xref: BTO:0001541 xref: EHDAA:1017 xref: EMAPA:16579 xref: EV:3000635 xref: MAT:0000117 xref: MFO:0003340 xref: TAO:0000151 xref: XAO:0002000 xref: ZFA:0000151 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002120\nlabel: pronephros" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002120 [Term] id: EFO:0000928 name: obsolete_mesonephros def: "The excretory organ of the embryo, arising caudal to the pronephros or pronephric rudiments and using its duct; it consists of a long tube in the lower part of the body cavity, running parallel with the vertebral axis and joined at right angles by a row of twisting tubes." [] def: "The functioning kidney in fish and amphibia" [] synonym: "corpus Wolffi" EXACT [] synonym: "kidney - fish" EXACT [] synonym: "mesonephric kidney" EXACT [] synonym: "mesonephron" EXACT [] synonym: "mesonephros - adult" EXACT [] synonym: "mesonephrpric kidney" EXACT [] synonym: "middle kidney" EXACT [] synonym: "wolffian body" EXACT [] xref: BTO:0001542 xref: MAT:0000118 xref: MFO:0003300 xref: TAO:0000529 xref: XAO:0000154 xref: ZFA:0000529 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000080\nlabel: mesonephros" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000080 [Term] id: EFO:0000929 name: obsolete_kidney def: "1: One of a pair of vertebrate organs situated in the body cavity near the spinal column that excrete waste products of metabolism, in humans are bean-shaped organs about 4 1/2 inches (11 1/2 centimeters) long lying behind the peritoneum in a mass of fatty tissue, and consist chiefly of nephrons by which urine is secreted, collected, and discharged into a main cavity whence it is conveyed by the ureter to the bladder.n2: Any of various excretory organs of invertebrate animals." [] synonym: "excretory canal" EXACT [] synonym: "metanephros" EXACT [] xref: AAO:0000250 xref: BTO:0000671 xref: EHDAA:5911 xref: EMAPA:17373 xref: EV:0100096 xref: FMA:7203 xref: MA:0000368 xref: MAT:0000119 xref: SAEL:57 xref: WBbt:0005775 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002113\nlabel: kidney" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002113 [Term] id: EFO:0000930 name: obsolete_ureter def: "Organ with organ cavity which connects the renal sinus to the urinary bladder. Examples: There are only two ureters, the right and the left ureters." [] def: "The tube that carries urine from the kidney to the bladder." [] xref: BTO:0001409 xref: EHDAA:7009 xref: EMAPA:17950 xref: EV:0100097 xref: FMA:9704 xref: MA:0000378 xref: WBbt:0004540 xref: WBbt:0005777 xref: XAO:0000144 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000056\nlabel: ureter" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000056 [Term] id: EFO:0000931 name: obsolete_urethra def: "Organ with organ cavity which connects the cavity of the urinary bladder to the exterior. Examples: There is only one urethra." [] def: "The tube through which urine leaves the body. It empties urine from the bladder." [] synonym: "excretory duct" EXACT [] xref: BTO:0001426 xref: EMAPA:18692 xref: EV:0100099 xref: FMA:19667 xref: MA:0000379 xref: MAT:0000121 xref: WBbt:0005777 xref: XAO:0000153 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000057\nlabel: urethra" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000057 [Term] id: EFO:0000932 name: obsolete_bronchus def: "Either of the two primary divisions of the trachea that lead respectively into the right and the left lung." [] synonym: "bronchial tissue" EXACT [] synonym: "Bronchial trunk" EXACT [] synonym: "main bronchus" EXACT [] xref: BTO:0001340 xref: EHDAA:3072 xref: EMAPA:16849 xref: EV:0100041 xref: FMA:7409 xref: MA:0000436 xref: MAT:0000133 xref: SAEL:14 xref: XAO:0000121 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002185\nlabel: bronchus" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002185 [Term] id: EFO:0000933 name: obsolete_gill def: "A paired respiratory organ in fishes consisting of gill filaments on the gill arch in the posterior portion of the head and usually providing the primary exchange of gases between the blood and the surrounding water." [] def: "Compound organ that consists of gill filaments, gill lamellae, gill rakers and pharyngeal arches 3-7. The gills are responsible for primary gas exchange between the blood and the surrounding water." [] synonym: "branchia" EXACT [] synonym: "external gill" EXACT [] synonym: "gills" EXACT [] xref: BTO:0000518 xref: MAT:0000134 xref: MFO:0003180 xref: TAO:0000354 xref: XAO:0000120 xref: ZFA:0000354 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0011150 label : pharyngeal arch derived gill" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0011150 [Term] id: EFO:0000934 name: obsolete_lung def: "Lobular organ which has as its parts alveoli connected to the tracheobronchial tree. Examples: There are only two instances, right lung and left lung." [] def: "One of the usually paired compound saccular thoracic organs that constitute the basic respiratory organ of air-breathing vertebrates." [] synonym: "lungs" EXACT [] xref: AAO:0000275 xref: BTO:0000763 xref: EHDAA:2205 xref: EMAPA:16728 xref: EV:0100042 xref: FMA:7195 xref: MA:0000415 xref: MAT:0000135 xref: SAEL:62 xref: XAO:0000119 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002048\nlabel: lung" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002048 [Term] id: EFO:0000935 name: obsolete_trachea def: "1: The cartilaginous and membranous tube descending from the larynx and branching into the right and left main bronchi. It is kept patent by a series of about twenty transverse horseshoe-shaped cartilages. Called also windpipe.n2: One of a system of minute tubes ramifying throughout the body of a terrestrial arthropod and delivering air to the tissues. Called also tracheal tubule." [] def: "Cuticle-lined epithelial tube that forms part of the tracheal system. The thinnest trachea consist of a single tracheocyte folded back on itself to form a tube." [] synonym: "tracheal tubule" EXACT [] synonym: "windpipe" EXACT [] xref: BTO:0001388 xref: EHDAA:3078 xref: EMAPA:16853 xref: EV:0100040 xref: FBbt:00005043 xref: FMA:7394 xref: MA:0000441 xref: MAT:0000137 xref: SAEL:111 xref: TADS:000315 xref: XAO:0000118 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0003126\nlabel: trachea" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003126 [Term] id: EFO:0000936 name: obsolete_spiracle property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_6005054 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_6005054 [Term] id: EFO:0000937 name: obsolete_diaphragm def: "The thin muscle below the lungs and heart that separates the chest from the abdomen." [] synonym: "diaphragm muscle" EXACT [] synonym: "future diaphragm" EXACT [] synonym: "midriff" EXACT [] synonym: "phren" EXACT [] synonym: "Thoracic diaphragm" EXACT [] xref: BTO:0000341 xref: EHDAA:4104 xref: EMAPA:17701 xref: EV:0100376 xref: FMA:13295 xref: MAT:0000502 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001103\nlabel: diaphragm" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001103 [Term] id: EFO:0000938 name: sensory bristle def: "A sensillum with a long, unicellular, setiform outgrowth that is strongly chitinized." [] synonym: "chaeta" EXACT [] synonym: "sensillum chaeticum" EXACT [] xref: FBbt:00005177 xref: MAT:0000152 is_a: UBERON:0001032 ! sensory system property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000939 name: obsolete_sensillum property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0002536 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002536 [Term] id: EFO:0000940 name: obsolete_chordotonal organ def: "An auditory and vibration detector in insects" [] def: "Chordotonal organs are arthropod sensory structures consisting of special sensilla called the scolopidia, which are mechano-transducers and respond mainly to stretch or flexion. In insects, they consist of bundles of internal sensilla, each of which has a cap cell, an enveloping cell and one or more sense cells. The distal end of the organ is usually attached to the cuticle of the body wall, marked by a pit, a thickened disc or a nodule of chitin, and the base of the organ is connected with the hypodermis, often by a special ligament." [] def: "Mechanosensory organ, generally attached to the body wall and consisting of one or more scolopidia." [] synonym: "ch" EXACT [] synonym: "scolopophorous organ" EXACT [] xref: FBbt:00005215 xref: MAT:0000209 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001038\nlabel: chordotonal organ" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001038 [Term] id: EFO:0000941 name: obsolete_lateral line system def: "a line of neuroblasts along the sides of fish and amphibia that detect vibrations and pressure changes" [] def: "A sensory system on the surface of the fish, consisting of small sensory patches (neuromasts) distributed in discrete lines over the body surface. The lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance. (See Anatomical Atlas entry for lateral line by T. Whitfield.)" [] synonym: "lateral_line_system" EXACT [] synonym: "ll" EXACT [] xref: AAO:0000269 xref: MAT:0000249 xref: MFO:0003620 xref: TAO:0000282 xref: XAO:0000095 xref: ZFA:0000034 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002540\nlabel: lateral line system" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002540 [Term] id: EFO:0000942 name: obsolete_axial skeleton structure def: "*Subdivision of skeleton which consists of the bones of the vertebral column, the thoracic cage and the pelvis." [] def: "The post-cranial structural components forming the long axis of the vertebrate body; in Danio, consisting of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins." [] def: "The post-cranial structural components forming the long axis of the vertebrate body; usually consists of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins." [] synonym: "axial skeleton" EXACT [] synonym: "postcranial axia skelton" EXACT [] synonym: "postcranial axial skeleton" EXACT [] synonym: "vertebral column" EXACT [] xref: AAO:0000034 xref: EHDAA:5049 xref: EMAPA:17214 xref: FMA:71221 xref: MA:0000308 xref: MAT:0000148 xref: SAEL:121 xref: TAO:0000317 xref: ZFA:0000317 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0002090 label : postcranial axial skeleton" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002090 [Term] id: EFO:0000943 name: obsolete_craniofacial skeleton bone def: "Anatomical cluster that is part of the cranium and composed of cartilage and cartilage replacement bones." [] def: "Skeletal system that is part of the head, including the splanchnocranium, chondrocranium, and dermatocranium." [] def: "Subdivision of skeletal system which consists of the skeleton of the head and its joints." [] xref: AAO:0000109 xref: EHDAA:6029 xref: EMAPA:17680 xref: FMA:46565 xref: FMA:87596 xref: MA:0000316 xref: MAT:0000149 xref: TAO:0001424 xref: ZFA:0000737 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.8" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Synonym with cranium, use cranium instead." xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003128 [Term] id: EFO:0000944 name: obsolete_exoskeleton def: "The outer non-living layer of the integumentary system derived from the epidermis." [] synonym: "cuticle" EXACT [] xref: FBbt:00004970 xref: MAT:0000150 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0001001 label : chitin-based cuticle" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001001 [Term] id: EFO:0000945 name: obsolete_limb bone synonym: "limb skeleton" EXACT [] xref: MA:0000688 xref: MAT:0000151 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002428\nlabel: limb bone" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002428 [Term] id: EFO:0000946 name: obsolete_pectoral girdle property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/ZFA_0000407 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/ZFA_0000407 [Term] id: EFO:0000947 name: obsolete_pelvic girdle property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/ZFA_0000565 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/ZFA_0000565 [Term] id: EFO:0000948 name: obsolete_joint def: "Anatomical cluster which consists of two or more adjacent bones or cartilages, which may be interconnected by various types of tissue." [] def: "Anatomical junction which consists of parts of two or more adjacent bones or cartilages which are interconnected by organs and/or organ parts that consist of various types of connective tissue. Together with other joints and bones, a joint constitutes the skeletal system. Examples: pubic symphysis, knee joint, temporomandibular joint." [] def: "The point of contact between elements of an animal skeleton with the parts that surround and support it." [] synonym: "articular joint" EXACT [] synonym: "set of all joints" EXACT [] xref: BTO:0001686 xref: EV:0100142 xref: FBbt:00004645 xref: FMA:228659 xref: FMA:7490 xref: MA:0000319 xref: MAT:0000188 xref: NCIt:C13044 xref: TAO:0000367 xref: XAO:0000171 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.78" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use UBERON_0000982 skeletal joint" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000982 [Term] id: EFO:0000949 name: cartilage def: "A specialized, fibrous connective tissue, forming most of the temporary skeleton of the embryo, providing a model in which most of the bones develop, and constituting an important part of the growth mechanism of the organism. It exists in several types, the most important of which are hyaline cartilage, elastic cartilage, and fibrocartilage. Also used as a general term to designate a mass of such tissue in a particular site in the body." [] def: "Portion of tissue which is connective tissue composed of collagen and/or elastin fibers and chondrocytes. Cartilage is avascular and provides both skeletal functions and a framework upon which bone is deposited." [] xref: BTO:0000206 xref: EV:0100141 xref: MA:0000104 xref: MAT:0000189 xref: MeSH:D002356 xref: NCIt:C12373 xref: SAEL:17 xref: TAO:0001501 xref: XAO:0000170 is_a: EFO:0003858 ! skeleton structure relationship: part_of UBERON:0001434 ! skeletal system property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000950 name: obsolete_median fin skeleton property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_4000170 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_4000170 [Term] id: EFO:0000951 name: obsolete_paired fin skeleton def: "Skeletal system that consists of the paired fins (pectoral or pelvic fins)." [] synonym: "appendicular skeleton" EXACT [] xref: MAT:0000278 xref: TAO:0000027 xref: ZFA:0000027 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0002091 label :appendicular skeleton " xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "OntologyMappingImporter following MAT:0000278" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002091 [Term] id: EFO:0000953 name: obsolete_dermis def: "A collagenous layer of the skin subjacent to the epidermis and covering the hypodermis. It contains various types of cells (e.g. fibroblasts, pigment cells, nerve, blood vessels and scales." [] def: "Dense irregular connective tissue which consists of a papillary layer and a reticular layer." [] def: "The sensitive vascular inner mesodermic layer of the skin." [] synonym: "corium" EXACT [] synonym: "cutis" EXACT [] xref: AAO:0000128 xref: BTO:0000294 xref: EMAPA:17527 xref: EV:0100154 xref: FMA:70323 xref: MA:0000152 xref: MAT:0000153 xref: SAEL:27 xref: XAO:0000217 xref: ZFA:0001119 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002067\nlabel: dermis" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002067 [Term] id: EFO:0000954 name: obsolete_epidermis def: "A cellular, multilayered epithelium derived from the ectoderm. Zebrafish epidermis consists only of living cells unlike terrestrial vertebrates in which dead, keratinized cells are present." [] def: "The outer epithelial layer of the external integument of the animal body that is derived from the embryonic epiblast; specifically: the outer nonsensitive and nonvascular layer of the skin of a vertebrate that overlies the dermis." [] synonym: "adult epidermis" EXACT [] synonym: "hypodermis" EXACT [] xref: AAO:0000143 xref: BTO:0000404 xref: EMAPA:17528 xref: EV:0100153 xref: FBbt:00005401 xref: FMA:70596 xref: MA:0000153 xref: MAT:0000154 xref: SAEL:35 xref: TADS:0000109 xref: WBbt:0005733 xref: ZFA:0000105 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001003\nlabel: epidermis" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001003 [Term] id: EFO:0000955 name: obsolete_feather def: "Any of the light horny epidermal outgrowths that form the external covering of the body of birds and that consist of a shaft bearing on each side a series of barbs which bear barbules which in turn bear barbicels commonly ending in hooked hamuli and interlocking with the barbules of an adjacent barb to link the barbs into a continuous vane." [] xref: BTO:0000447 xref: MAT:0000156 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000022\nlabel: feather" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000022 [Term] id: EFO:0000956 name: obsolete_nail synonym: "claw" EXACT [] synonym: "Nail plate" EXACT [] xref: EMAPA:18734 xref: EV:0100159 xref: FMA:54326 xref: MA:0002703 xref: MAT:0000158 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001705\nlabel: nail" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001705 [Term] id: EFO:0000958 name: obsolete_hair property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0001037 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001037 [Term] id: EFO:0000959 name: obsolete_pharyngeal arch def: "One of a series of bony or cartilaginous arches that develop in the walls of the mouth cavity and pharynx of a vertebrate embryo, consist typically of a curved segmented bar or rod on each side meeting the contralateral bar or rod at the ventral end, and correspond to the gill arches of fishes and amphibians." [] synonym: "branchial arch" EXACT [] synonym: "pharyngeal arches" EXACT [] synonym: "visceral arch" EXACT [] xref: BTO:0001785 xref: MAT:0000242 xref: ZFA:0001306 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002539\nlabel: pharyngeal arch" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002539 [Term] id: EFO:0000960 name: obsolete_scale def: "Dermal bone that is thin, flexible, and platelike, and that develops in overlapping skinfolds that cover the body and often the head of fish and the bases of the fins." [] synonym: "scales" EXACT [] xref: MAT:0000257 xref: MO:108 xref: ZFA:0000277 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002542\nlabel: scale" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "OntologyMappingImporter following MAT:0000257" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002542 [Term] id: EFO:0000961 name: obsolete_adult segment def: "One of the repeated divisions of the whole organism." [] synonym: "segment" EXACT [] synonym: "segment - adult" EXACT [] xref: FBbt:00000003 xref: MAT:0000271 xref: NCIt:C45312 xref: SNOMEDCT:264193005 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.78" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use OBERON_0000914 organismal segment" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000914 [Term] id: EFO:0000962 name: obsolete_skin property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0000014 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000014 [Term] id: EFO:0000963 name: obsolete_tail def: "Organism subdivision which is the part of the body posterior to the vent which includes the anal and caudal fins." [] def: "The rear end or a process or prolongation of the rear end of the body of an animal." [] synonym: "post-vent region" EXACT [] xref: BTO:0001348 xref: EMAPA:16748 xref: MA:0000008 xref: MAT:0000094 xref: MFO:0081020 xref: SAEL:103 xref: WBbt:0005741 xref: XAO:0003026 xref: ZFA:0001117 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002415\nlabel: tail" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002415 [Term] id: EFO:0000964 name: obsolete_head def: "Cardinal body part, which consists of a maximal set of diverse subclasses of organ and organ part spatially associated with the skull, it is partially surrounded by skin of head. Examples: There is only one head." [] def: "Organism subdivision which is the part of the body which consists of the cranial and pharygeal regions." [] def: "The anterior section (tagma) of the insect body bearing the compound eyes, antennae and mouthparts; separated from the thorax by the cervix." [] def: "The upper or anterior division of the animal body that contains the brain, the chief sense organs, and the mouth." [] synonym: "adult head" EXACT [] synonym: "Head (volume)" EXACT [] xref: BTO:0000282 xref: EV:0100475 xref: FBbt:00000004 xref: FMA:7154 xref: MAT:0000294 xref: MFO:0001660 xref: NIFSTD:birnlex_1230 xref: SAEL:46 xref: TAO:0001114 xref: TGMA:0000002 xref: WBbt:0005739 xref: XAO:0003024 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000033\nlabel: head" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000033 [Term] id: EFO:0000965 name: obsolete_thorax def: "1: The part of the mammalian body between the neck and the abdomen; also: its cavity in which the heart and lungs lie.n2: The middle of the three chief divisions of the body of an insect; also: the corresponding part of a crustacean or an arachnid." [] def: "A small, slender, rigid, needle- or thornlike spicule." [] def: "Any blade with a few short branches arising apically or subapically." [] def: "Subdivision of trunk proper, which is demarcated from the neck by the plane of the superior thoracic aperture and from the abdomen internally by the inferior surface of the diaphragm and externally by the costal margin and associated with the thoracic vertebral column and ribcage and from the back of the thorax by the external surface of the posterolateral part of the rib cage, the anterior surface of the thoracic vertebral column and the posterior axillary lines; together with the abdomen and the perineum, it constitutes the trunk proper. Examples: There is only one thorax." [] def: "The main middle section of the insect body comprising three thoracic rings: the pro-, the meso- and the metathoraces which are more or less well fused and cask-like sometimes having on the upper lateral part one of two pairs of wings, while on the ventrolateral part each thoracic ring bears a pair of legs." [] synonym: "acicula" EXACT [] synonym: "Chest" EXACT [] xref: BTO:0001368 xref: EV:0100010 xref: FBbt:00000015 xref: FMA:9576 xref: MAT:0000295 xref: SAEL:106 xref: TGMA:000136 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001443\nlabel: chest" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001443 [Term] id: EFO:0000966 name: obsolete_trunk def: "1: The human or animal body apart from the head and appendages.n2: The thorax of an insect." [] def: "Organism subdivision which is the part of the body posterior to the head and anterior to the tail." [] def: "Subdivision of body proper, which consists of a maximal set of diverse subclasses of organ and organ part spatially associated with the ribcage, thoracic and lumbar vertebral column, sacrum and coccyx, it is partially surrounded by skin of trunk. Examples: There is only one trunk." [] synonym: "Rumpf" EXACT [] synonym: "Torso" EXACT [] xref: BTO:0001493 xref: FMA:7181 xref: MAT:0000296 xref: MFO:0001720 xref: NIFSTD:sao1078172392 xref: SAEL:112 xref: TAO:0001115 xref: XAO:0003025 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002100\nlabel: trunk" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002100 [Term] id: EFO:0000967 name: obsolete_neck def: "Subdivision of body proper, which consists of a maximal set of diverse subclasses of organ and organ part spatially associated with the cervical vertebral coumn, it is partially surrounded by skin of neck. Examples: There is only one neck." [] def: "The membranous tube that attaches the thorax to the margins of the occipital foramen." [] def: "The part of an animal that connects the head with the body." [] synonym: "adult neck" EXACT [] synonym: "Neck (volume)" EXACT [] synonym: "pedicle" EXACT [] synonym: "Spine Neck" EXACT [] xref: BTO:0000420 xref: EV:0100476 xref: FMA:7155 xref: MAT:0000297 xref: NIFSTD:sao1642908940 xref: SAEL:70 xref: TGMA:0000005 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000974\nlabel: neck" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000974 [Term] id: EFO:0000968 name: obsolete_abdomen def: "1: The part of the body between the thorax and the pelvis; also: the cavity of this part of the trunk containing the chief viscera.n2: The posterior section of the body behind the thorax in an arthropod." [] def: "Subdivision of trunk proper, which is demarcated from the thorax internally by the inferior surface of the sternocostal part of the diaphragm and externally by the costal margin, from the back of abdomen by the external surface of the posterior abdominal wall, from the perineum by the superior surface of the urogenital diaphragm and from the lower limbs by the inguinal folds; together with the thorax, and perineum, it constitutes the trunk proper. Examples: There is only one abdomen." [] def: "The most posterior of the three tagma (FBbt:00000002)." [] def: "The third large region of the insect body, which originally comprised twelve segments, each segment is usually formed by a dorsal tergite and a ventral sternite and carries on both sides a spiracle, sometimes, both the dorsal and the ventral plates are further subdivided to give rise to latero-tergites and latero-sternites. In the context of Drosophila refers to the most posterior of the three main tagmata or divisions of the body plan, after the head and the thorax." [] def: "The third, posterior division (tagma) of the insect body. In adult mosquitoes, consisting of ten apparent segments." [] synonym: "abdominal cavity" EXACT [] synonym: "Abdominopelvic region" EXACT [] synonym: "Abdominopelvis" EXACT [] synonym: "adult abdomen" EXACT [] xref: BTO:0000020 xref: EV:0100011 xref: FBbt:00000020 xref: FMA:9577 xref: MAT:0000298 xref: SAEL:1 xref: TGMA:0000524 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000916\nlabel: abdomen" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000916 [Term] id: EFO:0000969 name: obsolete_female reproductive system def: "Gonochoristic organism that can produce female gametes." [] def: "The internal and external reproductive organs in the female." [] def: "The reproductive system in women includes the ovaries, the fallopian tubes, the uterus (womb), the cervix, and the vagina (birth canal)." [] synonym: "female genital system" EXACT [] synonym: "female genitalia" EXACT [] synonym: "female organism" EXACT [] synonym: "gynaecological tissue" EXACT [] synonym: "systema genitale femininum" EXACT [] xref: BTO:0000083 xref: EHDAA:8116 xref: EMAPA:17959 xref: EV:0100110 xref: FBbt:00004864 xref: FMA:45663 xref: MA:0000381 xref: TADS:0000352 xref: XAO:0000156 xref: ZFA:0000303 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000474\nlabel: female reproductive system" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000474 [Term] id: EFO:0000970 name: obsolete_male reproductive system def: "Gonochoristic organism that can produce male gametes." [] def: "The internal and external reproductive organs in the male." [] def: "The male reproductive organs. They are divided into the external organs (PENIS; SCROTUM;and URETHRA) and the internal organs (TESTIS; EPIDIDYMIS; VAS DEFERENS; SEMINAL VESICLES; EJACULATORY DUCTS; PROSTATE; and BULBOURETHRAL GLANDS)." [] def: "The reproductive system in men includes the prostate, the testes, and the penis." [] synonym: "Accessory Sex Organs, Male" EXACT [] synonym: "Genital Organs, Male" EXACT [] synonym: "Genitalia, Male" EXACT [] synonym: "male genital organ" EXACT [] synonym: "Male Genital Organs" EXACT [] synonym: "male genital system" EXACT [] synonym: "Male Genitalia" EXACT [] synonym: "male organism" EXACT [] synonym: "Organs, Male Genital" EXACT [] synonym: "reproductive system - male" EXACT [] synonym: "Sex Organs, Accessory, Male" EXACT [] synonym: "systema genitale masculinum" EXACT [] xref: BTO:0000082 xref: EHDAA:8136 xref: EMAPA:17968 xref: EV:0100101 xref: FMA:45664 xref: MA:0000396 xref: MAT:0000029 xref: MeSH:D005837 xref: TADS:0000460 xref: WBbt:0005574 xref: XAO:0000155 xref: ZFA:0000242 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000079\nlabel: male reproductive system" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000079 [Term] id: EFO:0000971 name: obsolete_hermaphrodite gonad xref: MAT:0000165 xref: WBbt:0005178 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002537\nlabel: hermaphrodite gonad" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "OntologyMappingImporter following MAT:0000165" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002537 [Term] id: EFO:0000972 name: obsolete_unfertilized egg def: "A female germ cell that has entered meiosis." [] def: "The lateral expansion of the posterior part of the cibarium." [] xref: CL:0000023 xref: FBbt:00015288 xref: MA:0000388 xref: MAT:0000124 xref: SAEL:114 xref: TGMA:0000124 xref: ZFA:0009008 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.13.1" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate of EFO_0002443 oocyte" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0002443 [Term] id: EFO:0000973 name: obsolete_animal ovary def: "Female reproductive organ." [] synonym: "ovaries" EXACT [] synonym: "ovary" EXACT [] synonym: "ovary - animal" EXACT [] xref: AAO:0000371 xref: EHDAA:8124 xref: EMAPA:17962 xref: EV:0100111 xref: FBbt:00004865 xref: FMA:7209 xref: MA:0000384 xref: MAT:0000125 xref: MeSH:D010053 xref: NCIt:C12404 xref: SAEL:76 xref: TADS:0000400 xref: TAO:0000403 xref: XAO:0000258 xref: ZFA:0000403 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.83" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0000992" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000992 [Term] id: EFO:0000974 name: obsolete_oviduct def: "A long slender tube that extends from the upper lateral cornu of the uterus to the region of the ovary of the same side; it is attached to the broad ligament by the mesosalpinx, and consists of an ampulla, an infundibulum, an isthmus, two ostia, and a pars uterina." [] def: "Either of a pair of slender ducts through which ova pass from the ovaries to the uterus in the female reproductive system of humans and higher mammals." [] def: "Organ with organ cavity which connects the uterine cavity to the peritoneal cavity. Examples: There are only two uterine tubes, the right and the left uterine tubes." [] synonym: "Fallopian tube" EXACT [] synonym: "oviducts" EXACT [] synonym: "salpinx" EXACT [] synonym: "tuba uterina" EXACT [] synonym: "tuba uterinae" EXACT [] synonym: "uterine tube" EXACT [] xref: BTO:0000980 xref: EMAPA:18984 xref: EV:0100112 xref: FBbt:00004911 xref: FMA:18245 xref: MA:0000385 xref: MAT:0000126 xref: TADS:0000415 xref: TAO:0000560 xref: ZFA:0000560 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000993\nlabel: oviduct" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000993 [Term] id: EFO:0000975 name: obsolete_uterus def: "An elongate muscular pouch that is the site of egg fertilization. It is lined with a thin chitinous intima and is connected to the common oviduct anteriorly and the vulva posteriorly. The uterus holds a single egg at a time, with its micropyle near the opening of the seminal receptacle." [] def: "An organ of the female mammal for containing and usually for nourishing the young during development previous to birth." [] def: "Organ with organ cavity which is continuous proximally with the right and left uterine tubes and distally is connected to the vagina. Examples: There is only one uterus." [] synonym: "uterine horn" EXACT [] synonym: "uterine horns" EXACT [] synonym: "womb" EXACT [] xref: BTO:0001424 xref: EMAPA:18985 xref: EV:0100113 xref: FBbt:00004924 xref: FMA:17558 xref: MA:0000389 xref: MAT:0000127 xref: SAEL:119 xref: TADS:0000421 xref: WBbt:0006760 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000995\nlabel: uterus" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000995 [Term] id: EFO:0000976 name: obsolete_vagina def: "A canal in a female mammal that leads from the uterus to the external orifice of the genital canal." [] def: "An elongate muscular pouch, the anterior part of which is the uterus, where eggs are fertilized, and the posterior part of which, the vulva is the copulatory orifice and site of exit for eggs." [] def: "In most female insects, an ectodermal pouch derived from the posteroventral part of abdominal segment VIII (possibly IX in some insects) and sometimes adjacent parts of the abdominal venter; ending anteriorly at the posterior end of the common oviduct. In mosquitoes and some other insects, the roof of the vagina is formed by the venter of abdominal segment IX; partially divided transversely by the spermathecal eminence and sometimes the upper vaginal sclerites." [] def: "Organ with organ cavity which connects the cervical canal of uterus to the vestibule of vagina. Examples: There is only one vagina." [] synonym: "bursa copulatrix" EXACT [] synonym: "gemeinsamer Geschlechtsgang" EXACT [] synonym: "genital atrium" EXACT [] synonym: "genital chamber" EXACT [] synonym: "genital orifice" EXACT [] synonym: "vaginal atrium" EXACT [] xref: BTO:0000243 xref: EMAPA:18986 xref: EV:0100117 xref: FBbt:00004925 xref: FMA:19949 xref: MA:0000394 xref: MAT:0000128 xref: TADS:0000441 xref: TGMA:0000607 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000996\nlabel: vagina" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000996 [Term] id: EFO:0000977 name: obsolete_spermathecum def: "A bilaterally paired, mushroom-shaped organ consisting of a capsule connected to the uterus by a slender duct. The capsule is an, inverted, double-walled bowl, the outer wall of which is a layer of cuboidal epithelium and the inner wall of which is chitinous intima secreted by the epithelium. After copulation, the lumen of the capsule is filled with a concentrically coiled mass of the spermatozoa." [] def: "In most female insects, the usual sperm storage organ; a posteroventral ectodermal caecum of abdominal segment VIII located just behind the common oviduct; attached to the anterodorsal end of the vagina if the latter is developed; usually single but sometimes up to four are present. In mosquitoes, one, two or three may be present, each consisting of a spermathecal capsule at the end of a spermathecal duct." [] synonym: "reptaculum seminis" EXACT [] synonym: "seminal receptacle" EXACT [] synonym: "spermatheca" EXACT [] synonym: "spermathecae" EXACT [] xref: FBbt:00004921 xref: MAT:0000168 xref: TADS:0000434 xref: TGMA:0000560 xref: WBbt:0005319 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000994\nlabel: spermathecum" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000994 [Term] id: EFO:0000978 name: obsolete_vulva property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0000997 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000997 [Term] id: EFO:0000979 name: obsolete_cervix def: "A constricted portion of an organ or part; especially: the narrow outer end of the uterus." [] synonym: "Cervical canal" EXACT [] synonym: "Cervical canal of uterus" EXACT [] synonym: "cervix of uterus" EXACT [] synonym: "neck of uterus" EXACT [] synonym: "uterine cervix" EXACT [] xref: BTO:0001421 xref: EV:0100114 xref: FMA:17740 xref: MAT:0000292 xref: SAEL:118 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0000002 label : uterine cervix" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000002 [Term] id: EFO:0000980 name: obsolete_endometrium def: "The mucous membrane lining the uterus." [] synonym: "Tunica mucosa (Endometrium)" EXACT [] synonym: "uterine endometrium" EXACT [] synonym: "uterine mucous membrane" EXACT [] xref: BTO:0001422 xref: EV:0100115 xref: FMA:17742 xref: MAT:0000319 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001295\nlabel: endometrium" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001295 [Term] id: EFO:0000981 name: obsolete_ductus deferens synonym: "deferent duct" EXACT [] synonym: "Vas deferens" EXACT [] synonym: "vasa deferentia" EXACT [] xref: EMAPA:18681 xref: EV:0100105 xref: FBbt:00004968 xref: FMA:19234 xref: MA:0000413 xref: MAT:0000129 xref: SAEL:120 xref: TADS:0000486 xref: WBbt:0005337 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001000\nlabel vas deferens" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001000 [Term] id: EFO:0000982 name: obsolete_epididymus def: "A system of ductules emerging posteriorly from the testis that holds sperm during maturation and that forms a tangled mass before uniting into a single coiled duct which is continuous with the vas deferens." [] synonym: "Epididymis" EXACT [] xref: BTO:0000408 xref: EMAPA:19290 xref: EV:0100103 xref: FMA:18255 xref: MA:0000397 xref: MAT:0000130 xref: SAEL:36 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001301\nlabel: epididymis" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001301 [Term] id: EFO:0000984 name: obsolete_testis def: "A typically paired male reproductive gland that produces sperm and that in most mammals is contained within the scrotum at sexual maturity." [] synonym: "male gonad" EXACT [] synonym: "orchis" EXACT [] synonym: "testicle" EXACT [] synonym: "testiculus" EXACT [] xref: BTO:0001363 xref: MA:0002765 xref: SAEL:93 xref: WBbt:0005321 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000473\nlabel: testis" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000473 [Term] id: EFO:0000985 name: obsolete_ejaculatory duct def: "Either of the paired ducts in the human male that are formed by the junction of the duct from the seminal vesicle with the vas deferens, pass through the prostate, and open into or close to the prostatic utricle." [] synonym: "ductus ejaculatorius" EXACT [] xref: BTO:0001580 xref: EMAPA:19088 xref: FBbt:00004965 xref: FMA:19325 xref: MAT:0000170 xref: TADS:0000489 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000999\nlabel: ejaculatory duct" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000999 [Term] id: EFO:0000986 name: obsolete_seminal vesicle def: "Either of a pair of glandular pouches that lie one on either side of the male reproductive tract and in the human male secrete a sugar- and protein-containing fluid into the ejaculatory duct." [] synonym: "glandula seminalis" EXACT [] synonym: "glandula vesiculosa" EXACT [] synonym: "seminal gland" EXACT [] synonym: "vas efferens" EXACT [] synonym: "vesicula seminalis" EXACT [] xref: BTO:0001234 xref: EV:0100106 xref: FBbt:00004958 xref: FMA:19386 xref: MAT:0000171 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000998\nlabel: seminal vesicle" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000998 [Term] id: EFO:0000987 name: obsolete_penis def: "A male organ of copulation that in male mammals including humans usually functions as the channel by which urine leaves the body." [] def: "Distal part of the aedeagus consisting of a median, scleratised, pointed lobe through which the ejaculatory duct discharges." [] synonym: "phallus" EXACT [] xref: BTO:0000405 xref: EHDAA:9380 xref: EMAPA:18682 xref: EV:0100107 xref: FBbt:00004852 xref: FMA:9707 xref: MA:0000408 xref: MAT:0000186 xref: SAEL:80 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000989\nlabel: penis" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000989 [Term] id: EFO:0000988 name: gametophyte def: "The individual or generation of a plant exhibiting alternation of generations that bears sex organs." [] xref: BTO:0000495 xref: MAT:0000004 xref: PO:0009004 xref: ZEA:0015175 is_a: PO:0025131 ! plant anatomical entity property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000989 name: root structure def: "The usually underground part of a seed plant body that originates usually from the hypocotyl, functions as an organ of absorption, aeration, and food storage or as a means of anchorage and support, and differs from a stem especially in lacking nodes, buds, and leaves." [] synonym: "GRO:0005338" EXACT [] synonym: "root" EXACT [] xref: BTO:0001188 xref: MAT:0000005 xref: NCIt:C33446 xref: NCIt:C79664 xref: PO:0009005 xref: ZEA:0015034 is_a: PO:0025131 ! plant anatomical entity property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000990 name: obsolete_meristem property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/PO_0009013 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0009013 [Term] id: EFO:0000991 name: seed structure def: "A matured ovule containing an embryo and food supply and covered by a seed coat." [] synonym: "GRO:0005339" EXACT [] synonym: "seed" EXACT [] xref: BTO:0001226 xref: MAT:0000008 xref: NCIt:C54575 xref: NCIt:C70596 xref: NCIt:C73913 xref: PO:0009010 xref: SNOMEDCT:264337003 xref: ZEA:0015178 is_a: PO:0025131 ! plant anatomical entity property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000992 name: shoot def: "A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." [] synonym: "GRO:0005300" EXACT [] synonym: "shoot axis" EXACT [] xref: BTO:0001243 xref: MAT:0000009 xref: NCIt:C48053 xref: NCIt:C79689 xref: ZEA:0015180 is_a: PO:0025131 ! plant anatomical entity property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000993 name: obsolete_leaf def: "A lateral outgrowth from a plant stem that is typically a flattened expanded variably shaped greenish organ, constitutes a unit of the foliage, and functions primarily in food manufacture by photosynthesis." [] synonym: "GRO:0005306" EXACT [] xref: BTO:0000713 xref: MAT:0000234 xref: NCIt:C79219 xref: PO:0009025 xref: ZEA:0015031 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with PO_0025034" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0025034 [Term] id: EFO:0000994 name: plant fluid synonym: "fluid - plant" EXACT [] xref: MAT:0000347 is_a: PO:0025131 ! plant anatomical entity property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000995 name: gall tissue xref: MAT:0000351 is_a: PO:0025131 ! plant anatomical entity property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000996 name: obsolete_vascular tissue property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/PO_0009015 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0009015 [Term] id: EFO:0000997 name: storage organ xref: MAT:0000366 is_a: PO:0025131 ! plant anatomical entity property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000998 name: plant reproductive system structure synonym: "reproductive system - plant" EXACT [] xref: MAT:0000514 is_a: PO:0025131 ! plant anatomical entity property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0000999 name: plant developmental tissue synonym: "developmental tissue - plant" EXACT [] xref: MAT:0000518 is_a: PO:0025131 ! plant anatomical entity property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001004 name: pollen tube def: "The slender tube formed by the pollen grain that penetrates an ovule and releases the male gametes." [] xref: BTO:0001276 xref: MAT:0000217 xref: MeSH:D053205 xref: PO:0006345 is_a: EFO:0000988 ! gametophyte property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001005 name: plant sperm def: "A mature male germ cell that develops from a spermatid." [] xref: MAT:0000218 xref: PO:0000084 is_a: EFO:0000988 ! gametophyte property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001006 name: obsolete_thallus property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/PO_0030027 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0030027 [Term] id: EFO:0001007 name: obsolete_phyllid_v2 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/PO_0025075 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0025075 [Term] id: EFO:0001008 name: obsolete_rhizome property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/PO_0004542 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0004542 [Term] id: EFO:0001009 name: obsolete_apical root meristem property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.71" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use PO_0020147 root apical stem" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0020147 [Term] id: EFO:0001010 name: lateral root meristem synonym: "root meristem - lateral" EXACT [] xref: MAT:0000221 xref: PO:0006308 xref: ZEA:0015158 is_a: EFO:0000989 ! root structure is_a: PO:0009013 ! portion of meristem tissue relationship: part_of EFO:0000989 ! root structure relationship: RO:0000086 EFO:0001657 ! has_quality lateral property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "OntologyMappingImporter following MAT:0000221" xsd:string [Term] id: EFO:0001011 name: obsolete_taproot def: "The fascia dentata is the earliest stage of the hippocampal circuit. The fascia dentata and the hilus together make up the dentate gyrus." [] def: "The main root of a plant, usually stouter than the lateral roots and growing straight downward from the stem." [] synonym: "fascia dentata" EXACT [] synonym: "primary root" EXACT [] xref: BTO:0002615 xref: MAT:0000222 xref: ZEA:0015061 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with PO_0020127 primary root" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0020127 [Term] id: EFO:0001012 name: obsolete_root hair property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/PO_0000256 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0000256 [Term] id: EFO:0001013 name: obsolete_root nodule property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/PO_0003023 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0003023 [Term] id: EFO:0001014 name: obsolete_root cap def: "A thimble-shaped group of cells found at the tip of roots; it functions to protect the meristem." [] synonym: "GRO:0005429" EXACT [] xref: BTO:0000039 xref: MAT:0000357 xref: PO:0020123 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.67" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/PO_0020123 label : root cap instead" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0020123 [Term] id: EFO:0001015 name: obsolete_tuber def: "A short fleshy usually underground stem bearing minute scale leaves each of which bears a bud in its axil and is potentially able to produce a new plant." [] xref: BTO:0001400 xref: MAT:0000358 xref: NCIt:C79681 xref: PO:0004543 xref: SNOMEDCT:75505008 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with PO_0025522" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0025522 [Term] id: EFO:0001016 name: obsolete_cambium def: "A thin formative layer between the xylem and phloem of most vascular plants that gives rise to new cells and is responsible for secondary growth;nA lateral meristem in vascular plants, including the vascular cambium and cork cambium, that forms parallel rows of cells resulting in secondary tissues." [] def: "The layer of active cells between xylem and phloem that gives rise to secondary tissues (e.g. bark)" [] synonym: "GRO:0005597" EXACT [] xref: BTO:0000170 xref: MAT:0000223 xref: MeSH:D058506 xref: PO:0005597 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with PO_0005597" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0005597 [Term] id: EFO:0001017 name: obsolete_apical shoot meristem property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.71" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use PO_0020148 shoot apical stem" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0020148 [Term] id: EFO:0001018 name: lateral shoot meristem synonym: "shoot meristem - lateral" EXACT [] xref: MAT:0000225 xref: PO:0006344 is_a: EFO:0000992 ! shoot is_a: PO:0009006 ! shoot system is_a: PO:0009013 ! portion of meristem tissue relationship: RO:0000086 EFO:0001657 ! has_quality lateral property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "OntologyMappingImporter following MAT:0000225" xsd:string [Term] id: EFO:0001019 name: obsolete_radicle def: "The lower part of the axis of a plant embryo or seedling." [] xref: BTO:0001152 xref: MAT:0000415 xref: PO:0020031 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with PO_0020031" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0020031 [Term] id: EFO:0001020 name: obsolete_endosperm def: "A triploid nutritive tissue resulting from the fusion of a haploid sperm nucleus with the two haploid polar nuclei in the ovule of angiosperms." [] synonym: "GRO:0005361" EXACT [] xref: BTO:0000390 xref: MAT:0000227 xref: MeSH:D056625 xref: PO:0009089 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with PO_0009089" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0009089 [Term] id: EFO:0001021 name: obsolete_seed coat def: "The outer layer of a seed that is developed from the integuments of the ovule; the testa." [] synonym: "GRO:0005359" EXACT [] synonym: "tegmen" EXACT [] synonym: "testa" EXACT [] xref: BTO:0001227 xref: MAT:0000228 xref: PO:0009088 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with PO_0009088" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0009088 [Term] id: EFO:0001022 name: obsolete_cotyledon def: "A seed leaf; the first leaf formed in a seed." [] synonym: "GRO:0005358" EXACT [] xref: BTO:0000300 xref: MAT:0000359 xref: MeSH:D018548 xref: NCIt:C34135 xref: PO:0020030 xref: SNOMEDCT:30625008 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with PO_0020030" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0020030 [Term] id: EFO:0001023 name: obsolete_bud def: "Any small part of the embryo or adult metazoon more or less resembling the bud of a plant and presumed to have potential for growth and differentiation." [] xref: BTO:0001639 xref: MAT:0000229 xref: NCIt:C79622 xref: PO:0000055 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with PO_0000055" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0000055 [Term] id: EFO:0001024 name: obsolete_flower structure property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/PO_0009046 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0009046 [Term] id: EFO:0001025 name: obsolete_petal def: "The often showy flower component attached just inside the sepals; petals are usually colorful to attract pollinators." [] synonym: "GRO:0005667" EXACT [] xref: BTO:0001040 xref: MAT:0000354 xref: NCIt:C79652 xref: PO:0009032 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with PO_0009032" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0009032 [Term] id: EFO:0001026 name: obsolete_sepal def: "One of the modified leaves comprising a calyx." [] synonym: "GRO:0005655" EXACT [] xref: BTO:0001547 xref: MAT:0000355 xref: NCIt:C79669 xref: PO:0009031 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with PO_0009031" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0009031 [Term] id: EFO:0001027 name: obsolete_tepal property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/PO_0009033 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0009033 [Term] id: EFO:0001028 name: obsolete_fruit def: "The mature ovary or ovaries of a seed-bearing plant, together with accessory parts, containing the seeds and occurring in a wide variety of forms." [] synonym: "GRO:0005250" EXACT [] synonym: "silique" EXACT [] xref: BTO:0000486 xref: MAT:0000232 xref: MeSH:D005638 xref: NCIt:C71972 xref: PO:0009001 xref: SNOMEDCT:72511004 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with PO_0009001" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0009001 [Term] id: EFO:0001029 name: obsolete_inflorescence def: "A flower cluster with a definite arrangement." [] synonym: "GRO:0005317" EXACT [] synonym: "panicle" EXACT [] xref: BTO:0000628 xref: MeSH:D056626 xref: NCIt:C79642 xref: PO:0009049 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with PO_0009049" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0009049 [Term] id: EFO:0001030 name: RNAi profiling by array def: "RNAi profiling is an assay in which double stranded RNA is synthesized with a sequence complementary to a gene(s) of interest and introduced into a cell or organism, where it is recognized as exogenous genetic material and activates the RNAi pathway resulting in knockdown of the transcripts and providing a means to study downstream changes in gene expression." [] is_a: EFO:0001457 ! RNA assay is_a: EFO:0002696 ! assay by array relationship: RO:0000057 EFO:0002701 ! has_participant DNA array property_value: definition:citation "ArrayExpress production team" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001031 name: tiling path by array def: "An assay in which a tiling path array (where probes are arrayed covering target regions e.g. a genome or chromosome at very high density) is used to identify transcribed regions." [] is_a: EFO:0001456 ! DNA assay is_a: EFO:0002696 ! assay by array relationship: RO:0000057 EFO:0002701 ! has_participant DNA array property_value: ArrayExpress:label "Tiling path by array" xsd:string property_value: definition:citation "ArrayExpress production team" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001032 name: transcription profiling def: "An assay in which the transcriptome of a biological sample is analysed." [] synonym: "transcriptional profiling" EXACT [] is_a: EFO:0002694 ! experimental process property_value: ArrayExpress:label "Transcription profiling" xsd:string property_value: definition:citation "ArrayExpress production team" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001033 name: translation profiling def: "An assay in which surface-bound, translationally competent ribosome complexes are used to generate a translation profile for mRNA, which mRNA may be a single molecular species, or a combination of species, including complex mixtures such as those found in the set of mRNAs isolated from a cell or tissue. One or more components of the surface-bound ribosome complex may be labeled at specific positions to permit analysis of multiple or single molecules for determination of ribosomal conformational changes and translation kinetics. Translation profiles are used as the basis for comparison of an mRNA or set of mRNA species. The translation profile can be used to determine such characteristics as kinetics of initiation, kinetic of elongation, identity of the polypeptide product, and the like. Analysis of translation profiles may be used to determine differential gene expression, optimization of mRNA sequences for expression, screening drug candidates for an effect on translation." [] is_a: EFO:0001457 ! RNA assay is_a: EFO:0002696 ! assay by array relationship: RO:0000057 EFO:0002698 ! has_participant array property_value: ArrayExpress:label "Translation profiling" xsd:string property_value: definition:citation "United States Patent 20040023256" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001034 name: obsolete_male inflorescence xref: ZEA:0015085 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with PO_0025601 staminate inflorescence" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0025601 [Term] id: EFO:0001035 name: obsolete_female inflorescence xref: PO:0020126 xref: ZEA:0015084 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with PO_0025598 pistillate inflorescence" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0025598 [Term] id: EFO:0001036 name: obsolete_phyllid def: "A lateral outgrowth from a plant stem that is typically a flattened expanded variably shaped greenish organ, constitutes a unit of the foliage, and functions primarily in food manufacture by photosynthesis." [] def: "leaf of a moss or liverwort" [] xref: BTO:0000713 xref: MAT:0000276 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.8" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplication" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0001007 [Term] id: EFO:0001037 name: leaf vascular tissue is_a: EFO:0001983 ! leaf component is_a: PO:0009015 ! vascular tissue relationship: part_of PO:0025034 ! leaf property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001038 name: obsolete_stomatal complex property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/PO_0002000 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0002000 [Term] id: EFO:0001039 name: seedhead xref: MAT:0000237 is_a: EFO:0000992 ! shoot is_a: PO:0009006 ! shoot system property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001040 name: obsolete_stem def: "The main trunk of a plant; specifically: a primary plant axis that develops buds and shoots instead of roots." [] synonym: "axis" EXACT [] synonym: "culm" EXACT [] synonym: "stalk" EXACT [] xref: BTO:0001300 xref: MAT:0000239 xref: MeSH:D001368 xref: NCIt:C79676 xref: PO:0009047 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with PO_0009047" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0009047 [Term] id: EFO:0001041 name: obsolete_bark property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/PO_0004518 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0004518 [Term] id: EFO:0001042 name: obsolete_xylem def: "A complex tissue in the vascular system of higher plants that consists of vessels, tracheids, or both usually together with wood fibers and parenchyma cells, functions chiefly in conduction of water and dissolved minerals but also in support and food storage, and typically constitutes the woody element (as of a plant stem)." [] synonym: "GRO:0005352" EXACT [] synonym: "wood" EXACT [] xref: BTO:0001468 xref: MAT:0000363 xref: MeSH:D052584 xref: NCIt:C93062 xref: PO:0005352 xref: SNOMEDCT:14402002 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with PO_0005352" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0005352 [Term] id: EFO:0001043 name: obsolete_wood parenchyma property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/PO_0004532 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0004532 [Term] id: EFO:0001044 name: obsolete_phloem def: "A complex tissue in the vascular system of higher plants that consists mainly of sieve tubes and elongated parenchyma cells usually with fibers and that functions in translocation and in support and storage." [] synonym: "GRO:0005417" EXACT [] xref: BTO:0001058 xref: MAT:0000364 xref: MeSH:D052585 xref: PO:0005417 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with PO_0005417" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0005417 [Term] id: EFO:0001045 name: apoplasm def: "The fluid between the cell wall and the plasma membrane" [] synonym: "apoplast" EXACT [] xref: MAT:0000348 is_a: EFO:0000994 ! plant fluid property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001046 name: nectar def: "A sweet liquid that is secreted by the nectaries of a plant and is the chief raw material of honey." [] xref: BTO:0000537 xref: MAT:0000349 is_a: EFO:0000994 ! plant fluid property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001047 name: sap xref: MAT:0000350 xref: NCIt:C79665 is_a: EFO:0000994 ! plant fluid property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001048 name: bulb def: "A resting stage of a plant (as the lily, onion, hyacinth, or tulip) that is usually formed underground and consists of a short stem base bearing one or more buds enclosed in overlapping membranous or fleshy leaves." [] xref: BTO:0000159 xref: MAT:0000367 xref: NCIt:C61486 xref: NCIt:C79686 xref: SNOMEDCT:228657002 is_a: EFO:0000997 ! storage organ property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001049 name: obsolete_corm property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/PO_0025355 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0025355 [Term] id: EFO:0001050 name: obsolete_stamen def: "The floral organ that produces pollen; consisting of an anther and filament." [] synonym: "GRO:0005583" EXACT [] xref: BTO:0001559 xref: MAT:0000515 xref: NCIt:C79675 xref: PO:0009029 xref: ZEA:0015134 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with PO_0009029" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0009029 [Term] id: EFO:0001051 name: obsolete_carpel def: "The female reproductive part of a flower, consisting of stigma, style, and ovary." [] synonym: "GRO:0005441" EXACT [] synonym: "pistil" EXACT [] xref: BTO:0000072 xref: MAT:0000516 xref: NCIt:C79654 xref: PO:0009030 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with PO_0009030" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0009030 [Term] id: EFO:0001052 name: obsolete_plant ovary def: "The enlarged rounded usually basal portion of the pistil or gynoecium of an angiospermous plant that bears the ovules and consists of one or more carpels." [] synonym: "ovary - plant" EXACT [] xref: BTO:0000750 xref: MAT:0000517 xref: PO:0009072 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with PO_0009072" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0009072 [Term] id: EFO:0001053 name: obsolete_stigma property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/PO_0009073 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0009073 [Term] id: EFO:0001054 name: leprosy def: "A chronic granulomatous infection caused by MYCOBACTERIUM LEPRAE. The granulomatous lesions are manifested in the skin, the mucous membranes, and the peripheral nerves. Two polar or principal types are lepromatous and tuberculoid." [] def: "Leprosy is a chronic infectious disease affecting primarily the skin and peripheral nervous system." [Orphanet:548] subset: ordo_disease {source="Orphanet:548"} synonym: "[X]Leprosy, unspecified" EXACT [] synonym: "[X]Leprosy, unspecified (disorder)" EXACT [] synonym: "Disease, Hansen" EXACT [] synonym: "Disease, Hansen's" EXACT [] synonym: "HANSEN DIS" EXACT [] synonym: "Hansen Disease" EXACT [] synonym: "Hansen disease" EXACT [NCIT:C84824] synonym: "Hansen's Disease" EXACT [] synonym: "Hansen's disease" EXACT [NCIT:C84824] synonym: "HANSENS DIS" EXACT [] synonym: "Hansens Disease" EXACT [] synonym: "Infection due to Mycobacterium leprae" EXACT [] synonym: "Leprosies" EXACT [] synonym: "leprosy" EXACT [] {comment="preferred label from MONDO"} synonym: "Leprosy (disorder)" EXACT [] synonym: "LEPROSY NEC" EXACT [] synonym: "LEPROSY NOS" EXACT [] synonym: "Leprosy NOS (disorder)" EXACT [] synonym: "Leprosy, NOS" EXACT [] synonym: "Leprosy, unspecified" EXACT [] synonym: "Mycobacterium leprae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Mycobacterium leprae disease or disorder" EXACT [] synonym: "Mycobacterium leprae infection" EXACT [] synonym: "Mycobacterium leprae infectious disease" EXACT [] synonym: "Other specified leprosy" EXACT [] xref: DOID:1024 {source="EFO:0001054", source="MONDO:equivalentTo"} xref: ICD10CM:A30 {source="DOID:1024", source="MONDO:equivalentTo"} xref: ICD9:030 {source="EFO:0001054", source="DOID:1024"} xref: ICD9:030.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:030.9 {source="DOID:1024", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10024229 {source="Orphanet:548", source="Orphanet:548/e"} xref: MedDRA:10024232 xref: MESH:D007918 {source="EFO:0001054", source="Orphanet:548", source="DOID:1024", source="MONDO:equivalentTo", source="Orphanet:548/e"} xref: MeSH:D007918 xref: MONDO:0005124 xref: NCIT:C84824 {source="EFO:0001054", source="DOID:1024", source="MONDO:equivalentTo"} xref: NCIt:C84824 xref: Orphanet:548 {source="DOID:1024", source="MONDO:equivalentTo"} xref: SCTID:81004002 {source="EFO:0001054", source="DOID:1024", source="MONDO:equivalentTo"} xref: SNOMEDCT:81004002 xref: UMLS:C0023343 {source="Orphanet:548", source="DOID:1024", source="NCIT:C84824", source="MONDO:equivalentTo", source="Orphanet:548/e"} is_a: EFO:0003100 ! peripheral neuropathy is_a: EFO:0004248 ! male infertility is_a: EFO:0009429 ! Mycobacterium infection is_a: MONDO:0000314 {source="DOID:1024"} ! primary bacterial infectious disease is_a: MONDO:0020590 ! mycobacterial infectious disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare relationship: RO:0000057 NCBITaxon:1769 ! has_participant Mycobacterium leprae property_value: closeMatch http://identifiers.org/meddra/10024229 property_value: exactMatch DOID:1024 property_value: exactMatch http://identifiers.org/mesh/D007918 property_value: exactMatch http://identifiers.org/snomedct/81004002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023343 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A30 property_value: exactMatch NCIT:C84824 property_value: exactMatch Orphanet:548 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001055 name: borderline leprosy def: "A form of LEPROSY in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms." [] def: "A form of leprosy in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms." [MESH:D015439] synonym: "BB - Borderline leprosy" EXACT [] synonym: "Borderline Leprosies" EXACT [] synonym: "borderline leprosy" EXACT [] {comment="preferred label from MONDO"} synonym: "Borderline leprosy (disorder)" EXACT [] synonym: "Borderline leprosy [group B]" EXACT [] synonym: "borderline leprosy [group B]" EXACT [DOID:1023, ICD9CM:030.3] synonym: "Borderline or dimorphous leprosy" EXACT [] synonym: "borderline or dimorphous leprosy" EXACT [DOID:1023] synonym: "Dimorphous Leprosies" EXACT [] synonym: "Dimorphous Leprosy" EXACT [] synonym: "Group B leprosy" EXACT [] synonym: "Leprosies, Borderline" EXACT [] synonym: "Leprosies, Dimorphous" EXACT [] synonym: "Leprosy, Borderline" EXACT [] synonym: "Leprosy, Dimorphous" EXACT [] synonym: "Midborderline leprosy" EXACT [DOID:1023] synonym: "Midborderline leprosy (disorder)" EXACT [] synonym: "Type BB leprosy" EXACT [] xref: DOID:1023 {source="EFO:0001055", source="MONDO:equivalentTo"} xref: ICD10CM:A30.3 {source="DOID:1023", source="MONDO:equivalentTo"} xref: ICD9:030.3 {source="DOID:1023", source="EFO:0001055"} xref: MedDRA:10006029 xref: MESH:D015439 {source="DOID:1023", source="EFO:0001055", source="MONDO:equivalentTo"} xref: MeSH:D015439 xref: MONDO:0005125 xref: SCTID:400154003 {source="MONDO:equivalentTo"} xref: SNOMEDCT:400008009 xref: UMLS:C0023346 {source="DOID:1023", source="MONDO:equivalentTo"} xref: UMLS:C3251797 {source="MONDO:equivalentTo"} is_a: EFO:0001054 {source="DOID:1023", source="EFO:0001055", source="ICD10CM:A30.3", source="MESH:D015439/inferred"} ! leprosy property_value: exactMatch DOID:1023 property_value: exactMatch http://identifiers.org/mesh/D015439 property_value: exactMatch http://identifiers.org/snomedct/400154003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023346 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3251797 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A30.3 property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001056 name: tuberculoid leprosy def: "A principal or polar form of LEPROSY in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (LEPROSY, LEPROMATOUS), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others." [] def: "A principal or polar form of leprosy in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (leprosy, lepromatous), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others." [MESH:D015441] synonym: "Full tuberculoid leprosy" EXACT [] synonym: "Leprosies, Macular" EXACT [] synonym: "Leprosies, Neural" EXACT [] synonym: "Leprosies, Tuberculoid" EXACT [] synonym: "Leprosy, Macular" EXACT [] synonym: "Leprosy, Neural" EXACT [] synonym: "Leprosy, Tuberculoid" EXACT [] synonym: "Macular Leprosies" EXACT [] synonym: "Macular Leprosy" EXACT [] synonym: "Neural Leprosies" EXACT [] synonym: "Neural Leprosy" EXACT [] synonym: "Nodular leprosy" EXACT [] synonym: "Smooth leprosy" EXACT [] synonym: "smooth leprosy" EXACT [DOID:1025] synonym: "TT - Full tuberculoid leprosy" EXACT [] synonym: "Tuberculoid Leprosies" EXACT [] synonym: "tuberculoid leprosy" EXACT [] {comment="preferred label from MONDO"} synonym: "Tuberculoid leprosy (disorder)" EXACT [] synonym: "Tuberculoid leprosy [type T]" EXACT [] synonym: "tuberculoid leprosy [type T]" EXACT [DOID:1025, ICD9CM:030.1] synonym: "type T leprosy" EXACT [DOID:1025] synonym: "Type TT leprosy" EXACT [] xref: DOID:1025 {source="EFO:0001056", source="MONDO:equivalentTo"} xref: ICD10CM:A30.1 {source="DOID:1025", source="MONDO:equivalentTo"} xref: ICD9:030.1 {source="EFO:0001056", source="DOID:1025", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10044729 xref: MESH:D015441 {source="EFO:0001056", source="DOID:1025", source="MONDO:equivalentTo"} xref: MeSH:D015441 xref: MONDO:0005126 xref: SCTID:70143003 {source="EFO:0001056", source="DOID:1025", source="MONDO:equivalentTo"} xref: SNOMEDCT:70143003 xref: UMLS:C0023351 {source="DOID:1025", source="MONDO:equivalentTo"} is_a: EFO:0001054 {source="DOID:1025", source="EFO:0001056", source="ICD10CM:A30.1", source="MESH:D015441/inferred"} ! leprosy property_value: exactMatch DOID:1025 property_value: exactMatch http://identifiers.org/mesh/D015441 property_value: exactMatch http://identifiers.org/snomedct/70143003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023351 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A30.1 property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001057 name: lepromatous leprosy def: "A chronic communicable infection which is a principal or polar form of LEPROSY. This disorder is caused by MYCOBACTERIUM LEPRAE and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage." [] def: "A chronic communicable infection which is a principal or polar form of leprosy. This disorder is caused by mycobacterium leprae and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage." [MESH:D015440] synonym: "Cutaneous Leprosies" EXACT [] synonym: "Cutaneous Leprosy" EXACT [] synonym: "Full lepromatous leprosy" EXACT [] synonym: "Lepromatous Leprosies" EXACT [] synonym: "lepromatous leprosy" EXACT [] {comment="preferred label from MONDO"} synonym: "Lepromatous leprosy (disorder)" EXACT [] synonym: "Lepromatous leprosy [type L]" EXACT [] synonym: "lepromatous leprosy [type L]" EXACT [DOID:10887, ICD9CM:030.0] synonym: "Leprosies, Cutaneous" EXACT [] synonym: "Leprosies, Lepromatous" EXACT [] synonym: "Leprosies, Nodular" EXACT [] synonym: "Leprosy, Cutaneous" EXACT [] synonym: "Leprosy, Lepromatous" EXACT [] synonym: "Leprosy, Nodular" EXACT [] synonym: "LL - Full lepromatous leprosy" EXACT [] synonym: "Nodular Leprosies" EXACT [] synonym: "Nodular Leprosy" EXACT [] synonym: "Type L leprosy" EXACT [] synonym: "type L leprosy" EXACT [DOID:10887] synonym: "Type LL leprosy" EXACT [] xref: DOID:10887 {source="EFO:0001057", source="MONDO:equivalentTo"} xref: ICD10CM:A30.5 {source="DOID:10887", source="MONDO:equivalentTo"} xref: ICD9:030.0 {source="DOID:10887", source="EFO:0001057", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10024227 xref: MESH:D015440 {source="DOID:10887", source="EFO:0001057", source="MONDO:equivalentTo"} xref: MeSH:D015440 xref: MONDO:0005127 xref: SCTID:21560005 {source="DOID:10887", source="EFO:0001057", source="MONDO:equivalentTo"} xref: SNOMEDCT:21560005 xref: UMLS:C0023348 {source="DOID:10887", source="MONDO:equivalentTo"} is_a: EFO:0001054 {source="DOID:10887", source="EFO:0001057", source="ICD10CM:A30.5", source="MESH:D015440/inferred"} ! leprosy property_value: exactMatch DOID:10887 property_value: exactMatch http://identifiers.org/mesh/D015440 property_value: exactMatch http://identifiers.org/snomedct/21560005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023348 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A30.5 property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001058 name: sensory system disease def: "A sensory system disease is a disease which has as location the sensory system." [] xref: DOID:0050155 is_a: EFO:0000618 ! nervous system disease property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001059 name: obsolete_cataract def: "Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)" [] def: "Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)" [] def: "Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed)" [] synonym: "Cat. - Cataract" EXACT [] synonym: "Cataract (disorder)" EXACT [] synonym: "Cataract (M-54510)" EXACT [] synonym: "Cataract (morphologic abnormality)" EXACT [] synonym: "Cataract associated with other disorders" EXACT [] synonym: "Cataract associated with other syndromes" EXACT [] synonym: "Cataract associated with other syndromes (disorder)" EXACT [] synonym: "Cataract associated with radiation and other physical influences" EXACT [] synonym: "Cataract form" EXACT [] synonym: "Cataract form (observable entity)" EXACT [] synonym: "CATARACT NEC" EXACT [] synonym: "Cataract NOS" EXACT [] synonym: "Cataract NOS (disorder)" EXACT [] synonym: "CATARACT W RADIATION" EXACT [] synonym: "CATARACT W SYNDROME NEC" EXACT [] synonym: "Cataract, Membranous" EXACT [] synonym: "Cataracts" EXACT [] synonym: "cataracts" EXACT [] synonym: "Cataracts, Membranous" EXACT [] synonym: "Lens Opacities" EXACT [] synonym: "Lens Opacity" EXACT [] synonym: "Lenticular opacity" EXACT [] synonym: "Membranous Cataract" EXACT [] synonym: "Membranous Cataracts" EXACT [] synonym: "Opacities, Lens" EXACT [] synonym: "Opacity, Lens" EXACT [] synonym: "Other cataract" EXACT [] synonym: "Other cataract (disorder)" EXACT [] synonym: "Other cataract NOS" EXACT [] synonym: "Other cataract NOS (disorder)" EXACT [] synonym: "Pseudoaphakia" EXACT [] synonym: "Pseudoaphakias" EXACT [] synonym: "Unspecified cataract" EXACT [] xref: DOID:83 xref: ICD10:H26 xref: ICD9:366 xref: MedDRA:10007739 xref: MeSH:D002386 xref: NCIt:C26713 xref: OMIM:115900 xref: OMIM:116100 xref: OMIM:616279 xref: OMIM:616509 xref: OMIM:618415 xref: SNOMEDCT:128306009 xref: SNOMEDCT:193570009 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.38.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replaced with Mondo term\nsee https://github.com/ebispot/efo/issues/1381" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/MONDO_0005129 [Term] id: EFO:0001060 name: celiac disease def: "A food allergy that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite." [] def: "A food hypersensitivity that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite." [] def: "A malabsorption syndrome that is precipitated by the ingestion of foods containing GLUTEN, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION." [] def: "A malabsorption syndrome that is precipitated by the ingestion of GLUTEN-containing foods, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION." [] def: "An autoimmune genetic disorder with an unknown pattern of inheritance that primarily affects the digestive tract. It is caused by intolerance to dietary gluten. Consumption of gluten protein triggers an immune response which damages small intestinal villi and prevents adequate absorption of nutrients. Clinical signs include abdominal cramping, diarrhea or constipation and weight loss. If untreated, the clinical course may progress to malnutrition, anemia, osteoporosis and an increased risk of intestinal malignancies. However, the prognosis is favorable with successful avoidance of gluten in the diet." [NCIT:C26714] synonym: "CD - Celiac disease" EXACT [] synonym: "CD - Coeliac disease" EXACT [] synonym: "CELIAC DIS" EXACT [] synonym: "celiac disease" EXACT [DOID:10608, Orphanet:555] synonym: "celiac disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Celiac disease (disorder)" EXACT [] synonym: "Celiac disease NOS" EXACT [] synonym: "Celiac disease NOS (disorder)" EXACT [] synonym: "Celiac rickets" EXACT [] synonym: "Celiac rickets (disorder)" EXACT [] synonym: "Celiac Sprue" EXACT [] synonym: "celiac sprue" EXACT [DOID:10608, Orphanet:555] synonym: "Celiac syndrome" EXACT [] synonym: "Coeliac disease" EXACT [] synonym: "Coeliac disease [Ambiguous]" EXACT [] synonym: "Coeliac disease NOS" EXACT [] synonym: "Coeliac rickets" EXACT [] synonym: "Coeliac sprue" EXACT [] synonym: "coeliac sprue" EXACT OMO:0003005 [] synonym: "Coeliac syndrome" EXACT [] synonym: "CS - Celiac sprue" EXACT [] synonym: "CS - Coeliac sprue" EXACT [] synonym: "Disease, Celiac" EXACT [] synonym: "Enteropathies, Gluten" EXACT [] synonym: "Enteropathies, Gluten-Sensitive" EXACT [] synonym: "Enteropathy, Gluten" EXACT [] synonym: "Enteropathy, Gluten-Sensitive" EXACT [] synonym: "Gluten Enteropathies" EXACT [] synonym: "Gluten enteropathy" EXACT [] synonym: "gluten intolerance" EXACT [Orphanet:555] synonym: "Gluten Sensitive Enteropathy" EXACT [] synonym: "Gluten-Induced Enteropathy" EXACT [] synonym: "gluten-induced enteropathy" EXACT [NCIT:C26714, Orphanet:555] synonym: "Gluten-induced enteropathy syndrome" EXACT [] synonym: "Gluten-responsive sprue" EXACT [] synonym: "Gluten-Sensitive Enteropathies" EXACT [] synonym: "Gluten-Sensitive Enteropathy" EXACT [] synonym: "GSE - Gluten-sensitive enteropathy" EXACT [] synonym: "Idiopathic steatorrhea" EXACT [] synonym: "idiopathic steatorrhea" EXACT [DOID:10608, Orphanet:555] synonym: "Idiopathic steatorrhoea" EXACT [] synonym: "Non Tropical Sprue" EXACT [] synonym: "non tropical sprue" EXACT [NCIT:C26714] synonym: "Non-tropical sprue" EXACT [] synonym: "Nontropical Sprue" EXACT [] synonym: "Sprue" EXACT [] synonym: "Sprue, Celiac" EXACT [] synonym: "Sprue, Nontropical" EXACT [] synonym: "Steatorrhoea - idiopathic" EXACT [] synonym: "Wheat-sensitive enteropathy" EXACT [] xref: DOID:10608 {source="MONDO:equivalentTo", source="EFO:0001060"} xref: ICD10CM:K90.0 {source="MONDO:equivalentTo", source="DOID:10608"} xref: ICD9:579.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10608", source="EFO:0001060"} xref: MedDRA:10007864 xref: MESH:D002446 {source="MONDO:equivalentTo", source="DOID:10608", source="EFO:0001060"} xref: MeSH:D002446 xref: MONDO:0005130 xref: NCIT:C26714 {source="MONDO:equivalentTo", source="DOID:10608", source="MONDO:exact-label-match", source="EFO:0001060"} xref: NCIt:C26714 xref: OMIM:212750 xref: OMIM:609753 xref: OMIM:609755 xref: OMIM:612011 xref: OMIMPS:212750 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:555 {source="MONDO:equivalentObsolete", source="DOID:10608"} xref: SCTID:396331005 {source="MONDO:equivalentTo", source="DOID:10608", source="EFO:0001060"} xref: SNOMEDCT:396331005 xref: UMLS:C0007570 {source="MONDO:equivalentTo", source="DOID:10608", source="NCIT:C26714"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0009554 ! malabsorption syndrome is_a: MONDO:0000588 {source="DOID:10608"} ! autoimmune disorder of gastrointestinal tract is_a: MONDO:0024635 ! small intestine disorder relationship: EFO:0000784 UBERON:0002108 ! has_disease_location small intestine property_value: exactMatch DOID:10608 property_value: exactMatch http://identifiers.org/mesh/D002446 property_value: exactMatch http://identifiers.org/snomedct/396331005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007570 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K90.0 property_value: exactMatch https://omim.org/phenotypicSeries/PS212750 property_value: exactMatch NCIT:C26714 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001061 name: cervical carcinoma def: "A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma." [NCIT:C9039] synonym: "cancer of cervix" BROAD [DOID:2893, NCIT:C9039] synonym: "cancer of the cervix" BROAD [NCIT:C9039] synonym: "cancer of the cervix" EXACT [NCIT:C9039] synonym: "cancer of the uterine cervix" BROAD [NCIT:C9039] synonym: "cancer of the uterine cervix" EXACT [NCIT:C9039] synonym: "cancer of uterine cervix" BROAD [NCIT:C9039] synonym: "cancer of uterine cervix" EXACT [NCIT:C9039] synonym: "carcinoma cervix uteri" EXACT [DOID:2893] synonym: "carcinoma of cervix" EXACT [DOID:2893, MTH:166, NCIT:C9039] synonym: "carcinoma of cervix uteri" EXACT [NCIT:C9039] synonym: "carcinoma of the cervix" EXACT [NCIT:C9039] synonym: "carcinoma of the cervix uteri" EXACT [DOID:2893, NCIT:C9039] synonym: "carcinoma of the uterine cervix" EXACT [NCIT:C9039] synonym: "carcinoma of uterine cervix" EXACT [MONDO:patterns/carcinoma, NCIT:C9039] synonym: "cervical cancer" BROAD [NCIT:C9039] synonym: "cervical cancer, NOS" BROAD [NCIT:C9039] synonym: "cervical carcinoma" EXACT [NCIT:C9039] synonym: "cervical carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "cervical carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "cervix cancer" BROAD [NCIT:C9039] synonym: "cervix carcinoma" EXACT [MONDO:0002456, NCIT:C9039] synonym: "cervix uteri carcinoma" EXACT [NCIT:C9039] synonym: "uterine cervix cancer" BROAD [NCIT:C9039] synonym: "uterine cervix carcinoma" EXACT [MONDO:patterns/location, NCIT:C9039] xref: DOID:2893 {source="MONDO:equivalentTo", source="MONDO:superClassOf", source="EFO:0001061"} xref: DOID:2893 {source="MONDO:equivalentTo", source="EFO:0001061"} xref: EFO:0001061 {source="MONDO:equivalentTo"} xref: MONDO:0005131 xref: NCIT:C9039 {source="DOID:2893", source="MONDO:equivalentTo", source="EFO:0001061"} xref: OMIM:603956 xref: SCTID:285432005 {source="DOID:2893", source="MONDO:equivalentTo", source="EFO:0001061"} xref: UMLS:C0302592 {source="DOID:2893", source="NCIT:C9039", source="MONDO:equivalentTo"} is_a: EFO:0002919 ! uterine carcinoma is_a: MONDO:0002974 {source="DOID:2893", source="MONDO:Redundant", source="NCIT:C9039"} ! cervical cancer relationship: EFO:0000784 UBERON:0000002 ! has_disease_location uterine cervix property_value: closeMatch http://identifiers.org/snomedct/154522004 property_value: closeMatch http://identifiers.org/snomedct/154525002 property_value: closeMatch http://identifiers.org/snomedct/188174005 property_value: closeMatch http://identifiers.org/snomedct/269596006 property_value: closeMatch http://identifiers.org/snomedct/269599004 property_value: closeMatch http://identifiers.org/snomedct/93752005 property_value: exactMatch DOID:2893 property_value: exactMatch DOID:2893 property_value: exactMatch http://identifiers.org/snomedct/285432005 property_value: exactMatch http://identifiers.org/snomedct/285432005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0302592 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0302592 property_value: exactMatch NCIT:C9039 property_value: exactMatch NCIT:C9039 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:0001062 name: cytomegalovirus infection def: "A Herpesviridae infectious disease that results_in infection in animals and humans, has_agent Cytomegalovirus, which is transmitted_by contact with the infected person's bodily fluids or transmitted_by sexual contact, or transmitted_by blood transfusions." [] def: "A herpesvirus infection caused by Cytomegalovirus. Healthy individuals generally do not produce symptoms. However, the infection may be life-threatening in affected immunocompromised patients. The virus may cause retinitis, esophagitis, gastritis, and colitis. Morphologically, it is characterized by the presence of intranuclear inclusion bodies." [NCIT:C53649] def: "Infection with CYTOMEGALOVIRUS, characterized by enlarged cells bearing intranuclear inclusions. Infection may be in almost any organ, but the salivary glands are the most common site in children, as are the lungs in adults." [] synonym: "[X]Cytomegaloviral disease, unspecified" EXACT [] synonym: "[X]Cytomegaloviral disease, unspecified (disorder)" EXACT [] synonym: "CMV - Cytomegalovirus infection" EXACT [] synonym: "CMV infection" EXACT [NCIT:C53649] synonym: "Cytomagalovirus infection" EXACT [] synonym: "CYTOMEGALIC INCLUSION DIS" EXACT [] synonym: "Cytomegalic inclusion disease" EXACT [] synonym: "Cytomegalic Inclusion Diseases" EXACT [] synonym: "CYTOMEGALOVIRAL DISEASE" EXACT [] synonym: "Cytomegaloviral disease, unspecified" EXACT [] synonym: "Cytomegaloviral disease, unspecified (disorder)" EXACT [] synonym: "Cytomegaloviral infection" EXACT [NCIT:C53649] synonym: "CYTOMEGALOVIRUS INFECT" EXACT [] synonym: "Cytomegalovirus Infection" EXACT [] synonym: "cytomegalovirus infection" EXACT [] {comment="preferred label from MONDO"} synonym: "Cytomegalovirus infection (disorder)" EXACT [] synonym: "Cytomegalovirus infection, NOS" EXACT [] synonym: "Cytomegalovirus Infections" EXACT [] synonym: "Cytomegalovirus infectious disease" EXACT [] synonym: "Disease due to Cytomegalovirus" EXACT [] synonym: "Disease, Cytomegalic Inclusion" EXACT [] synonym: "Diseases, Cytomegalic Inclusion" EXACT [] synonym: "HCMV" EXACT [] synonym: "HCMV infection" EXACT [NCIT:C53649] synonym: "Human Herpesvirus 5" EXACT [] synonym: "INCLUSION DIS" EXACT [] synonym: "Inclusion Disease" EXACT [] synonym: "Inclusion Disease, Cytomegalic" EXACT [] synonym: "Inclusion Diseases" EXACT [] synonym: "Inclusion Diseases, Cytomegalic" EXACT [] synonym: "INFECT CYTOMEGALOVIRUS" EXACT [] synonym: "Infection, Cytomegalovirus" EXACT [] synonym: "Infections, Cytomegalovirus" EXACT [] synonym: "SALIVARY GLAND VIRUS DIS" EXACT [] synonym: "Salivary gland virus disease" EXACT [] xref: ICD10:B25 xref: ICD9:078.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0001062"} xref: MedDRA:10011831 xref: MESH:D003586 {source="MONDO:equivalentTo", source="EFO:0001062"} xref: MeSH:D003586 xref: MONDO:0005132 xref: NCIt:C112314 xref: NCIT:C53649 {source="MONDO:equivalentTo"} xref: SCTID:28944009 {source="MONDO:equivalentTo", source="EFO:0001062"} xref: SNOMEDCT:28944009 xref: UMLS:C0010823 {source="NCIT:C53649", source="MONDO:equivalentTo"} is_a: EFO:0007309 ! Herpesviridae infectious disease relationship: RO:0000057 NCBITaxon:10363 ! has_participant Human herpesvirus 5 strain Towne property_value: exactMatch http://identifiers.org/mesh/D003586 property_value: exactMatch http://identifiers.org/snomedct/28944009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010823 property_value: exactMatch NCIT:C53649 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001063 name: deafness def: "A partial or complete loss o f hearing in one or both ears; the level of impairment varies from a mild but important loss of sensitivity to a total loss of hearing." [] def: "An inherited or acquired condition characterized by a partial or complete loss of hearing in one or both ears. The level of impairment varies from a mild but important loss of sensitivity to a total loss of hearing." [] def: "An inherited or acquired condition characterized by the complete loss of the ability to hear from one or both ears." [] synonym: "Bilateral Deafness" EXACT [] synonym: "Bilateral deafness (finding)" EXACT [] synonym: "Complete deafness (finding)" EXACT [] synonym: "complete hearing loss" EXACT [] synonym: "Deafness NOS" EXACT [] synonym: "Deafness NOS (disorder)" EXACT [] synonym: "Deafness NOS (finding)" EXACT [] synonym: "Total Deafness" EXACT [] xref: MedDRA:10011878 xref: MeSH:D003638 xref: NCIt:C27644 xref: OMIM:301018 xref: SNOMEDCT:162344009 is_a: EFO:0004238 ! hearing loss property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001064 name: Down syndrome def: "A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. Down syndrome occurs in approximately 1:700 live births. Abnormalities are variable from individual to individual and may include intellectual disability, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set ears with prominent antihelix, fissured and thickened tongue, laxness of joint ligaments, pelvic dysplasia, broad hands and feet, stubby fingers, transverse palmar crease, lenticular opacities and heart disease. Patients with Down syndrome have an estimated 10 to 30-fold increased risk for leukemia; most have symptoms of Alzheimer's disease by age 40. Also known as trisomy 21 syndrome. --2004" [] def: "A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe intellectual disability. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)" [] def: "A disorder caused by the presence of all or part of an extra 21st chromosome, characterized by structural abnormalities throughout the body. Often Down syndrome is associated with some impairment of cognitive ability and physical growth as well as facial appearance. (Adapted from Wikipedia)" [] def: "Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of the chromosome 21 genetic material and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects." [https://orcid.org/0000-0002-4142-7153, Orphanet:870] comment: May be replaced by Down syndrome (http://www.orpha.net/ORDO/Orphanet_870) in the future {source="EFO:0001064"} subset: ordo_malformation_syndrome {source="Orphanet:870"} synonym: "Complete trisomy 21 syndrome" EXACT [] synonym: "complete trisomy 21 syndrome" NARROW [DOID:14250] synonym: "Complete trisomy 21 syndrome (disorder)" EXACT [] synonym: "Down syndrome" EXACT [NCIT:C2993, OMIM:190685] synonym: "Down syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Down syndrome chromosome region" RELATED [OMIM:190685] synonym: "Down syndrome critical region" RELATED [OMIM:190685] synonym: "Down syndrome, Isolated cases" EXACT [OMIM:190685, OMIM:genemap2] synonym: "Down Syndrome, Partial Trisomy 21" EXACT [] synonym: "DOWN'S SYNDROME" EXACT [] synonym: "Down's syndrome" EXACT [DOID:14250] synonym: "Down's syndrome - trisomy 21" EXACT [DOID:14250] synonym: "Down's syndrome NOS" EXACT [] synonym: "Down's syndrome NOS (disorder)" EXACT [] synonym: "Downs Syndrome" EXACT [] synonym: "Downs syndrome" EXACT [DOID:14250, NCIT:C2993] synonym: "G Trisomy" EXACT [] synonym: "G trisomy" EXACT [DOID:14250] synonym: "leukemia, megakaryoblastic, of Down syndrome" RELATED [OMIM:190685] synonym: "leukemia, megakaryoblastic, with or without Down syndrome, somatic" EXACT [OMIM:190685, OMIM:genemap2] synonym: "Mongolism" EXACT [] synonym: "Partial Trisomy 21 Down Syndrome" EXACT [] synonym: "Syndrome, Down" EXACT [] synonym: "Syndrome, Down's" EXACT [] synonym: "T21 - Trisomy 21" EXACT [] synonym: "transient myeloproliferative disorder of Down syndrome" RELATED [OMIM:190685] synonym: "Trisomy 21" EXACT [] synonym: "trisomy 21" NARROW [NCIT:C2993, OMIM:190685, Orphanet:870] synonym: "trisomy 21 (Down syndrome)" EXACT [NCIT:C2993] synonym: "Trisomy 21 (Down Syndrome)Downs SyndromeTrisomy 21 Syndrome" EXACT [] synonym: "Trisomy 21 NOS" EXACT [] synonym: "trisomy 21 syndrome" EXACT [] synonym: "trisomy 21 syndrome" NARROW [DOID:14250, NCIT:C2993] synonym: "Trisomy 21, Meiotic Nondisjunction" EXACT [] synonym: "Trisomy 21, Mitotic Nondisjunction" EXACT [] xref: DOID:14250 {source="EFO:0001064", source="MONDO:equivalentTo"} xref: ICD9:758.0 {source="EFO:0001064", source="DOID:14250", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10044688 {source="Orphanet:870/e", source="Orphanet:870"} xref: MESH:D004314 {source="EFO:0001064", source="Orphanet:870/e", source="DOID:14250", source="MONDO:equivalentTo", source="Orphanet:870"} xref: MeSH:D004314 xref: MONDO:0008608 xref: NCIT:C2993 {source="EFO:0001064", source="DOID:14250", source="MONDO:equivalentTo"} xref: NCIt:C2993 xref: NIFSTD:nlx_dys_20090502 {source="EFO:0001064"} xref: OMIM:190685 {source="Orphanet:870/e", source="DOID:14250", source="MONDO:equivalentTo", source="Orphanet:870"} xref: Orphanet:870 {source="OMIM:190685", source="MONDO:equivalentTo"} xref: SCTID:41040004 {source="EFO:0001064", source="DOID:14250", source="MONDO:equivalentTo"} xref: SNOMEDCT:41040004 xref: UMLS:C0013080 {source="Orphanet:870/e", source="OMIM:190685", source="DOID:14250", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C2993", source="Orphanet:870"} is_a: MONDO:0700124 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 21 disorder relationship: disease_has_feature EFO:0000474 {source="https://github.com/monarch-initiative/mondo/issues/824"} ! epilepsy property_value: closeMatch http://identifiers.org/meddra/10044688 property_value: exactMatch DOID:14250 property_value: exactMatch http://identifiers.org/mesh/D004314 property_value: exactMatch http://identifiers.org/snomedct/41040004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013080 property_value: exactMatch https://omim.org/entry/190685 property_value: exactMatch NCIT:C2993 property_value: exactMatch Orphanet:870 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:870"} property_value: excluded_subClassOf MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C2993"} property_value: excluded_subClassOf MONDO:0003847 {source="DOID:14250/inferred", source="EFO:0001064", source="MESH:D004314/inferred", source="MONDO:Redundant", source="NCIT:C2993"} property_value: excluded_subClassOf MONDO:0015159 {source="Orphanet:870"} property_value: excluded_subClassOf MONDO:0015506 {source="Orphanet:870"} property_value: excluded_subClassOf MONDO:0015652 {source="https://orcid.org/0000-0001-8486-0558"} property_value: excluded_subClassOf MONDO:0018792 {source="Orphanet:870"} property_value: excluded_subClassOf MONDO:0019040 {source="DOID:14250", source="MESH:D004314", source="Orphanet:870/inferred"} property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: EFO:0001065 name: endometriosis def: "The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs." [NCIT:C3014] synonym: "endometriosis" EXACT [MONDO:ambiguous, NCIT:C3014] synonym: "endometriosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Endometriosis (clinical)" EXACT [] synonym: "endometriosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Endometriosis (disorder)" EXACT [] synonym: "Endometriosis (morphologic abnormality)" EXACT [] synonym: "ENDOMETRIOSIS NEC" EXACT [] synonym: "Endometriosis NOS" EXACT [] synonym: "Endometriosis NOS (disorder)" EXACT [] synonym: "Endometriosis of other specified sites" EXACT [] synonym: "Endometriosis, site unspecified" EXACT [] xref: DOID:289 {source="EFO:0001065", source="MONDO:equivalentTo"} xref: HP:0030127 {source="MONDO:otherHierarchy"} xref: ICD10:N80 xref: ICD10CM:N80 {source="MONDO:equivalentTo", source="DOID:289"} xref: ICD9:617 {source="EFO:0001065", source="DOID:289"} xref: ICD9:617.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:617.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:289"} xref: MedDRA:10014778 xref: MedDRA:10014789 xref: MESH:D004715 {source="EFO:0001065", source="MONDO:equivalentTo", source="DOID:289"} xref: MeSH:D004715 xref: MONDO:0005133 xref: NCIT:C3014 {source="EFO:0001065", source="MONDO:equivalentTo", source="DOID:289"} xref: NCIt:C3014 xref: SCTID:129103003 {source="MONDO:equivalentTo", source="DOID:289"} xref: SNOMEDCT:396224008 is_a: MONDO:0000931 ! endometrial disorder relationship: EFO:0000784 UBERON:0001295 ! has_disease_location endometrium property_value: exactMatch DOID:289 property_value: exactMatch http://identifiers.org/mesh/D004715 property_value: exactMatch http://identifiers.org/snomedct/129103003 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/N80 property_value: exactMatch NCIT:C3014 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000589 "endometriosis (disease)" xsd:string [Term] id: EFO:0001066 name: experimental autoimmune encephalomyelitis def: "An autoimmune demyelinating disease of the central nervous system that is produced experimentally in animals by the injection of homogenized brain or spinal cord in Freund's adjuvant. Myelin basic protein appears to be the antigen that elicits the hypersensitivity immune response which is characterized by focal areas of lymphocyte and macrophage infiltration into the brain, associated with demyelination and destruction of the blood-brain barrier. Experimental allergic encephalomyelitis (EAE) is used as an animal model for demyelinating diseases of the human central nervous system such as multiple sclerosis." [NCIT:P378] def: "An experimental animal model for central nervous system demyelinating disease. Inoculation with a white matter emulsion combined with FREUND'S ADJUVANT, myelin basic protein, or purified central myelin triggers a T cell-mediated immune response directed towards central myelin. The pathologic features are similar to MULTIPLE SCLEROSIS, including perivascular and periventricular foci of inflammation and demyelination. Subpial demyelination underlying meningeal infiltrations also occurs, which is also a feature of ENCEPHALOMYELITIS, ACUTE DISSEMINATED. Passive immunization with T-cells from an afflicted animal to a normal animal also induces this condition. (From Immunol Res 1998;17(1-2):217-27; Raine CS, Textbook of Neuropathology, 2nd ed, p604-5)" [] synonym: "ALLERGIC ENCEPH" EXACT [] synonym: "ALLERGIC ENCEPH EXPER" EXACT [] synonym: "Allergic encephalomyelitis" EXACT [] synonym: "Allergic encephalomyelitis (disorder)" EXACT [] synonym: "Allergic Encephalomyelitis, Experimental" EXACT [] synonym: "AUTOIMMUNE ENCEPH EXPER" EXACT [] synonym: "Autoimmune Encephalomyelitis, Experimental" EXACT [] synonym: "AUTOIMMUNE EXPER ENCEPH" EXACT [] synonym: "Autoimmune Experimental Encephalomyelitis" EXACT [] synonym: "EAE" EXACT [] synonym: "ENCEPH ALLERGIC" EXACT [] synonym: "ENCEPH AUTOIMMUNE EXPER" EXACT [] synonym: "ENCEPH EXPER AUTOIMMUNE" EXACT [] synonym: "Encephalomyelitis, Allergic" EXACT [] synonym: "Encephalomyelitis, Autoimmune Experimental" EXACT [] synonym: "Encephalomyelitis, Autoimmune, Experimental" EXACT [] synonym: "Encephalomyelitis, Experimental Allergic" EXACT [] synonym: "Encephalomyelitis, Experimental Autoimmune" EXACT [] synonym: "EXPER ALLERGIC ENCEPH" EXACT [] synonym: "EXPER AUTOIMMUNE ENCEPH" EXACT [] synonym: "Experimental Allergic Encephalomyelitides" EXACT [] synonym: "Experimental Allergic Encephalomyelitis" EXACT [] synonym: "Experimental allergic encephalomyelitis (disorder)" EXACT [] synonym: "experimental autoimmune encephalomyelitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Experimental Encephalomyelitis, Autoimmune" EXACT [] xref: MESH:D004681 {source="EFO:0001066", source="MONDO:equivalentTo"} xref: MeSH:D004681 xref: MONDO:0005134 xref: NCIt:C3006 xref: SNOMEDCT:27040004 xref: SNOMEDCT:50776006 is_a: EFO:0001423 {source="EFO:0001066"} ! encephalomyelitis is_a: EFO:0020092 ! neuroinflammatory disorder is_a: EFO:1000870 {source="MESH:D004681"} ! CNS demyelinating autoimmune disease property_value: exactMatch http://identifiers.org/mesh/D004681 property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001067 name: parasitic infection def: "A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host." [] def: "A disease by infectious agent that is carried out by parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host." [] def: "A successful invasion of a host by an organism that uses the host for food and shelter." [NCIT:C27864] def: "A systemic infectious disease that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host." [] def: "Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." [] synonym: "animal parasitic infectious disease" EXACT [] synonym: "central nervous system parasitic infectious disease" EXACT [] synonym: "Disease caused by parasite" EXACT [] synonym: "disease caused by parasite" EXACT [] synonym: "Disease caused by parasite (disorder)" EXACT [] synonym: "Disease caused by parasite, NOS" EXACT [] synonym: "Disease, Parasitic" EXACT [] synonym: "disease, parasitic" RELATED [MESH:D010272] synonym: "Diseases, Parasitic" EXACT [] synonym: "diseases, parasitic" RELATED [MESH:D010272] synonym: "Ectoparasitic disease" EXACT [] synonym: "ectoparasitic disease" NARROW [DOID:1398] synonym: "Infestation" EXACT [] synonym: "infestation" RELATED [] synonym: "Infestation, NOS" EXACT [] synonym: "intestinal parasitism (disorder)" EXACT [] synonym: "intestinal parasitism NOS (disorder)" EXACT [] synonym: "intestinal parasitism, unspecified" EXACT [] synonym: "intestinal parasitism, unspecified (disorder)" EXACT [] synonym: "Parasite infestation" EXACT [] synonym: "parasite infestation" RELATED [] synonym: "Parasite infestation, NOS" EXACT [] synonym: "parasitemia" EXACT [] synonym: "parasitemia" NARROW [DOID:1398] synonym: "parasitic animal" EXACT [] synonym: "PARASITIC DIS" EXACT [] synonym: "Parasitic disease" EXACT [] synonym: "parasitic disease" EXACT [MESH:D010272, NCIT:C27864] synonym: "Parasitic disease, NOS" EXACT [] synonym: "Parasitic Diseases" EXACT [] synonym: "parasitic endophthalmitis" EXACT [] synonym: "Parasitic endophthalmitis (disorder)" EXACT [] synonym: "Parasitic endophthalmitis NOS" EXACT [] synonym: "Parasitic endophthalmitis NOS (disorder)" EXACT [] synonym: "parasitic eye infection" EXACT [] synonym: "Parasitic eye infection (disorder)" EXACT [] synonym: "parasitic eye infectious disease" EXACT [] synonym: "parasitic gastrointestinal disorder" EXACT [] synonym: "parasitic infection" EXACT [NCIT:C27864] synonym: "Parasitic infection of lung" EXACT [] synonym: "Parasitic infection of skin" EXACT [] synonym: "Parasitic infection, NOS" EXACT [] synonym: "parasitic infectious disease" EXACT [DOID:1398] synonym: "parasitic infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Parasitic infectious disease of the central nervous system (disorder)" EXACT [] synonym: "Parasitic infectious disease, NOS" EXACT [] synonym: "parasitic infestation of orbit" EXACT [] synonym: "Parasitic infestation of orbit (disorder)" EXACT [] synonym: "parasitic intestinal infectious disease" EXACT [] synonym: "parasitic liver disorder" EXACT [] synonym: "parasitic liver infectious disease" EXACT [] synonym: "parasitic lung infectious disease" EXACT [] synonym: "parasitic pregnancy complication" EXACT [] synonym: "parasitic skin disorder" EXACT [] synonym: "parasitic skin infectious disease" EXACT [] synonym: "Parasitic skin infestation (disorder)" EXACT [] synonym: "Parasitism" EXACT [] synonym: "parasitism" RELATED [] synonym: "Parasitism, NOS" EXACT [] synonym: "Parasitosis" EXACT [] synonym: "parasitosis" RELATED [] synonym: "Parasitosis, NOS" EXACT [] synonym: "psorospermiasis" EXACT [] synonym: "Psorospermiasis (disorder)" EXACT [] synonym: "skin Infestation NOS" EXACT [] xref: DOID:1398 {source="EFO:0001067", source="MONDO:equivalentTo"} xref: ICD10:B88 xref: ICD9:129 {source="EFO:0001067"} xref: ICD9:134.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:134.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:136.4 {source="EFO:0001067"} xref: ICD9:136.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:136.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:360.13 {source="EFO:0001067", source="DOID:1398"} xref: ICD9:376.13 {source="EFO:0001067"} xref: MESH:D010272 {source="EFO:0001067", source="MONDO:equivalentTo"} xref: MeSH:D010272 xref: MeSH:D018512 xref: MONDO:0005135 xref: NCIT:C27864 {source="EFO:0001067", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIt:C27864 xref: SCTID:17322007 {source="EFO:0001067", source="MONDO:equivalentTo"} xref: SNOMEDCT:128938009 xref: SNOMEDCT:128940004 xref: SNOMEDCT:17322007 xref: SNOMEDCT:187239003 xref: SNOMEDCT:312418006 xref: SNOMEDCT:56733003 xref: SNOMEDCT:57100005 is_a: EFO:0005741 {source="DOID:1398", source="EFO:0001067", source="NCIT:C27864"} ! infectious disease property_value: exactMatch DOID:1398 property_value: exactMatch http://identifiers.org/mesh/D010272 property_value: exactMatch http://identifiers.org/snomedct/17322007 property_value: exactMatch NCIT:C27864 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001068 name: malaria def: "A protozoan disease caused in humans by four species of the PLASMODIUM genus: PLASMODIUM FALCIPARUM; PLASMODIUM VIVAX; PLASMODIUM OVALE; and PLASMODIUM MALARIAE; and transmitted by the bite of an infected female mosquito of the genus ANOPHELES. Malaria is endemic in parts of Asia, Africa, Central and South America, Oceania, and certain Caribbean islands. It is characterized by extreme exhaustion associated with paroxysms of high FEVER; SWEATING; shaking CHILLS; and ANEMIA. Malaria in ANIMALS is caused by other species of plasmodia." [] def: "A protozoan infection caused by the genus Plasmodium. There are four species of Plasmodium that can infect humans: Plasmodium falciparum, vivax, ovale, and malariae. It is transmitted to humans by infected mosquitoes. Signs and symptoms include paroxysmal high fever, sweating, chills, and anemia." [] def: "An Aconoidasida infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle." [] def: "Malaria is a parasitic disease characterized as a vector-borne arthropod infectious acute or chronic disease caused by the presence of sporozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. Occurrance is widespread in tropical and subtropical regions, including parts of the Americas, Asia, and Africa." [] def: "Malaria is a serious and sometimes fatal disease caused by a parasite that commonly infects a certain type of mosquito which feeds on humans. Infection with malaria parasites may result in a wide variety of symptoms, ranging from absent or very mild symptoms to severe disease and even death. People who get malaria are typically very sick with high fevers, shaking chills, and flu-like illness. In general, malaria is a curable disease if diagnosed and treated promptly and correctly.Treatment depends on many factors including disease severity, the species of malaria parasite causing the infection and the part of the world in which the infection was acquired." [https://rarediseases.info.nih.gov/diseases/6961/malaria] subset: gard_rare {source="GARD:0006961"} subset: ordo_disease {source="Orphanet:673"} synonym: "[X]Unspecified malaria" EXACT [] synonym: "[X]Unspecified malaria (disorder)" EXACT [] synonym: "Disease due to Plasmodiidae" EXACT [] synonym: "Disease due to Plasmodiidae (disorder)" EXACT [] synonym: "Fever, Marsh" EXACT [] synonym: "Fever, Remittent" EXACT [] synonym: "induced malaria" EXACT [] synonym: "Induced malaria (disorder)" EXACT [] synonym: "INFECT PLASMODIUM" EXACT [] synonym: "Infection, Plasmodium" EXACT [] synonym: "Infections, Plasmodium" EXACT [] synonym: "malaria" EXACT [] {comment="preferred label from MONDO"} synonym: "Malaria (disorder)" EXACT [] synonym: "MALARIA COMPLICATED NEC" EXACT [] synonym: "malaria infection" EXACT [] synonym: "MALARIA NEC" EXACT [] synonym: "MALARIA NOS" EXACT [] synonym: "Malaria, NOS" EXACT [] synonym: "Malaria, unspecified" EXACT [] synonym: "Malarial fever" EXACT [] synonym: "Malarial fever (finding)" EXACT [] synonym: "Marsh Fever" EXACT [] synonym: "Other malaria" EXACT [] synonym: "Other malaria (disorder)" EXACT [] synonym: "Other pernicious complications of malaria" EXACT [] synonym: "Paludism" EXACT [] synonym: "Plasmodiosis" EXACT [] synonym: "plasmodiosis" RELATED [] synonym: "PLASMODIUM INFECT" EXACT [] synonym: "Plasmodium Infection" EXACT [] synonym: "Plasmodium Infections" EXACT [] synonym: "Remittent Fever" EXACT [] synonym: "Unspecified malaria" EXACT [] synonym: "Unspecified malaria (disorder)" EXACT [] xref: DOID:12365 {source="EFO:0001068", source="MONDO:equivalentTo"} xref: ICD10CM:B53 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: ICD10CM:B53.0 {source="MONDO:relatedTo", source="Orphanet:673/btnt"} xref: ICD9:084 {source="EFO:0001068", source="MONDO:equivalentTo", source="DOID:12365"} xref: ICD9:084.6 {source="DOID:12365"} xref: MedDRA:10025487 {source="Orphanet:673/e", source="Orphanet:673"} xref: MedDRA:10025495 xref: MedDRA:10025496 xref: MedDRA:10025497 xref: MESH:D008288 {source="EFO:0001068", source="Orphanet:673/e", source="MONDO:equivalentTo", source="DOID:12365", source="Orphanet:673"} xref: MeSH:D008288 xref: MONDO:0005136 xref: NCIT:C34797 {source="EFO:0001068", source="MONDO:equivalentTo", source="DOID:12365"} xref: NCIt:C34797 xref: Orphanet:673 {source="MONDO:equivalentTo", source="OMIM:611162"} xref: SCTID:61462000 {source="EFO:0001068", source="MONDO:equivalentTo", source="DOID:12365"} xref: SNOMEDCT:61462000 xref: UMLS:C0024530 {source="Orphanet:673/e", source="MONDO:equivalentTo", source="NCIT:C34797", source="DOID:12365", source="Orphanet:673"} is_a: EFO:0001421 ! liver disease is_a: MONDO:0002428 {source="DOID:12365", source="MESH:D008288"} ! protozoa infectious disease is_a: MONDO:0044347 ! erythrocyte disorder is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease relationship: disease_has_feature MONDO:0002280 {source="MONDO:Wikidata"} ! anemia relationship: EFO:0000784 CL:0000182 ! has_disease_location hepatocyte relationship: EFO:0000784 CL:0000232 ! has_disease_location erythrocyte property_value: closeMatch http://identifiers.org/meddra/10025487 property_value: exactMatch DOID:12365 property_value: exactMatch http://identifiers.org/mesh/D008288 property_value: exactMatch http://identifiers.org/snomedct/61462000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024530 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B53 property_value: exactMatch NCIT:C34797 property_value: exactMatch Orphanet:673 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6961/malaria xsd:anyURI {source="GARD:0006961"} [Term] id: EFO:0001069 name: nutritional disorder def: "Any condition related to a disturbance between proper intake and utilization of nourishment." [NCIT:C26836] subset: harrisons_view subset: rare_grouping synonym: "Disorder of nutrition" EXACT [] synonym: "Malnutrition" EXACT [] synonym: "NUTRITION DIS" EXACT [] synonym: "nutrition disease" EXACT [] synonym: "nutrition disease" RELATED [DOID:374] synonym: "Nutrition disorder" EXACT [] synonym: "Nutrition Disorders" EXACT [] synonym: "NUTRITIONAL DIS" EXACT [] synonym: "Nutritional disease" EXACT [] synonym: "Nutritional disease, NOS" EXACT [] synonym: "nutritional disorder" EXACT [DOID:374, NCIT:C26836] synonym: "nutritional disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "Nutritional disorder (disorder)" EXACT [] synonym: "Nutritional disorder, NOS" EXACT [] synonym: "Nutritional Disorders" EXACT [] xref: DOID:374 {source="EFO:0001069", source="MONDO:equivalentTo"} xref: ICD9:783.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D009748 {source="EFO:0001069", source="MONDO:equivalentTo", source="DOID:374"} xref: MeSH:D009748 xref: MeSH:D044342 xref: MONDO:0005137 xref: NCIT:C26836 {source="EFO:0001069", source="MONDO:equivalentTo", source="DOID:374", source="MONDO:exact-label-match"} xref: NCIt:C26836 xref: SCTID:2492009 {source="EFO:0001069", source="MONDO:equivalentTo", source="DOID:374"} xref: SNOMEDCT:2492009 xref: UMLS:C3714509 {source="MONDO:equivalentTo", source="DOID:374", source="NCIT:C26836"} is_a: EFO:0000589 ! metabolic disease property_value: exactMatch DOID:374 property_value: exactMatch http://identifiers.org/mesh/D009748 property_value: exactMatch http://identifiers.org/snomedct/2492009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3714509 property_value: exactMatch NCIT:C26836 property_value: excluded_subClassOf MONDO:0005066 {source="NCIT:C26836"} property_value: excluded_subClassOf MONDO:0006504 {source="DOID:374"} property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001070 name: folate deficiency def: "A nutritional condition produced by a deficiency of FOLIC ACID in the diet. Many plant and animal tissues contain folic acid, abundant in green leafy vegetables, yeast, liver, and mushrooms but destroyed by long-term cooking. Alcohol interferes with its intermediate metabolism and absorption. Folic acid deficiency may develop in long-term anticonvulsant therapy or with use of oral contraceptives. This deficiency causes anemia, macrocytic anemia, and megaloblastic anemia. It is indistinguishable from vitamin B 12 deficiency in peripheral blood and bone marrow findings, but the neurologic lesions seen in B 12 deficiency do not occur. (Merck Manual, 16th ed)" [] synonym: "Acid Deficiencies, Folic" EXACT [] synonym: "Acid Deficiency, Folic" EXACT [] synonym: "DEFIC FOLIC ACID" EXACT [] synonym: "Deficiencies, Folic Acid" EXACT [] synonym: "Deficiency of folic acid" EXACT [] synonym: "deficiency of folic acid (disorder)" EXACT [] synonym: "Deficiency, Folic Acid" EXACT [] synonym: "FOLIC ACID DEFIC" EXACT [] synonym: "Folic Acid Deficiencies" EXACT [] synonym: "Folic acid deficiency" EXACT [] synonym: "Folic acid deficiency (disorder)" EXACT [] synonym: "Hypovitaminosis, Avitaminosis,Vitamin deficiency (disorder)" EXACT [] xref: MedDRA:10016880 xref: MeSH:D005494 xref: SNOMEDCT:190633005 is_a: EFO:0005878 ! vitamin deficiency property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001071 name: lung carcinoma def: "A carcinoma that arises from epithelial cells of the lung" [MONDO:DesignPattern] def: "A carcinoma that arises from epithelial cells of the lung" [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of lung" BROAD [DOID:3905, NCIT:C4878] synonym: "cancer of the lung" BROAD [NCIT:C4878] synonym: "carcinoma of lung" EXACT [DOID:3905, MONDO:patterns/carcinoma, NCIT:C4878] synonym: "carcinoma of the lung" EXACT [NCIT:C4878] synonym: "lung cancer" BROAD [NCIT:C4878] synonym: "lung cancer, NOS" BROAD [NCIT:C4878] synonym: "lung carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "lung carcinoma" EXACT [MONDO:patterns/location, NCIT:C4878] synonym: "lung carcinoma" EXACT [] {comment="preferred label from MONDO"} xref: DOID:3905 {source="MONDO:equivalentTo", source="EFO:0001071"} xref: EFO:0001071 {source="MONDO:equivalentTo", source="DOID:3905"} xref: ICD10:C34.90 {source="DOID:3905"} xref: MONDO:0005138 xref: NCIT:C4878 {source="MONDO:equivalentTo", source="EFO:0001071", source="DOID:3905"} xref: UMLS:C0684249 {source="MONDO:equivalentTo", source="NCIT:C4878", source="DOID:3905"} is_a: EFO:0000313 {source="DOID:3905", source="EFO:0001071", source="MONDO:Redundant", source="NCIT:C4878"} ! carcinoma is_a: MONDO:0008903 {source="DOID:3905", source="MONDO:Redundant", source="NCIT:C4878"} ! lung cancer relationship: EFO:0000784 UBERON:0002048 ! has_disease_location lung property_value: closeMatch http://identifiers.org/snomedct/154485001 property_value: closeMatch http://identifiers.org/snomedct/187875007 property_value: closeMatch http://identifiers.org/snomedct/269561006 property_value: closeMatch http://identifiers.org/snomedct/448993007 property_value: exactMatch DOID:3905 property_value: exactMatch DOID:3905 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0684249 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0684249 property_value: exactMatch NCIT:C4878 property_value: exactMatch NCIT:C4878 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:0001072 name: memory impairment synonym: "Memory Impairment Adverse Event" EXACT [] xref: MedDRA:10027175 xref: NCIt:C55427 xref: NCIt:C78444 xref: SNOMEDCT:386807006 is_a: HP:0000707 ! Abnormality of the nervous system relationship: characteristic_of UBERON:0000955 ! brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001073 name: obesity def: "A disorder involving an excessive amount of body fat." [https://www.ama-assn.org/sites/default/files/media-browser/public/about-ama/councils/Council%20Reports/council-on-science-public-health/a13csaph3.pdf, https://www.mayoclinic.org/diseases-conditions/obesity/symptoms-causes/syc-20375742] def: "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." [] def: "An eating-related disorder in which excess body fat has accumulated to such an extent that health may be negatively affected. It is commonly defined as a body mass index (weight divided by height squared) of 30 kg/m2 or higher." [] comment: Obesity is a complex disease that may involve multiple environmental and genetic causes. See the subclass monogenic disease for genetic subtypes synonym: "Adiposis" EXACT [] synonym: "Adiposity" EXACT [] synonym: "Obese" EXACT [] synonym: "Obese (finding)" EXACT [] synonym: "obesity" EXACT [MONDO:ambiguous, OMIM:601665] synonym: "Obesity (disorder)" EXACT [] synonym: "Obesity [Ambiguous]" EXACT [] synonym: "obesity disease" EXACT [] synonym: "obesity disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "Obesity NOS" EXACT [] synonym: "Obesity, unspecified" EXACT [] synonym: "Overweight and obesity" EXACT [] xref: DOID:9970 {source="MONDO:equivalentTo", source="EFO:0001073"} xref: HP:0001513 {source="MONDO:otherHierarchy"} xref: ICD10:E66 xref: ICD9:278.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0001073"} xref: ICD9:278.00 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9970", source="EFO:0001073"} xref: MedDRA:10029883 xref: MedDRA:10029885 xref: MeSH:D009765 xref: MONDO:0011122 xref: NCIT:C3283 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:9970", source="EFO:0001073"} xref: NCIt:C3283 xref: NIFSTD:nlx_dys_20090302 {source="EFO:0001073"} xref: OMIM:601665 xref: Orphanet:521399 {source="MONDO:equivalentObsolete"} xref: SCTID:414916001 {source="MONDO:equivalentTo", source="DOID:9970", source="EFO:0001073"} xref: SNOMEDCT:414916001 xref: UMLS:C0028754 {source="OMIM:601665", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:9970"} is_a: MONDO:0003916 {source="DOID:9970"} ! overnutrition relationship: EFO:0006351 EFO:0004340 ! has_about_it body mass index property_value: exactMatch DOID:9970 property_value: exactMatch http://identifiers.org/snomedct/414916001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0028754 property_value: exactMatch NCIT:C3283 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001074 name: morbid obesity def: "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." [] def: "An excess of body weight, normally defined as an individual with a body mass index greater than 35 or a body weight greater than one hundred percent of ideal body weight." [NCIT:P378] def: "Extreme form of obesity where body bass index is 40 or more, which is roughly equivalent to 100 pounds or more over ideal body weight." [] def: "The condition of weighing two, three, or more times the ideal weight, so called because it is associated with many serious and life-threatening disorders. In the BODY MASS INDEX, morbid obesity is defined as having a BMI greater than 40.0 kg/m2." [] synonym: "Morbid Obesities" EXACT [] synonym: "morbid obesity" EXACT [] {comment="preferred label from MONDO"} synonym: "Morbid obesity (disorder)" EXACT [] synonym: "Obesities, Morbid" EXACT [] synonym: "Obesity, Morbid" EXACT [] synonym: "Severe obesity" EXACT [] synonym: "severe obesity" EXACT [DOID:11981] xref: DOID:11981 {source="MONDO:equivalentTo", source="EFO:0001074"} xref: ICD9:278.01 {source="DOID:11981", source="EFO:0001074"} xref: MedDRA:10027966 xref: MESH:D009767 {source="MONDO:equivalentTo", source="DOID:11981", source="EFO:0001074"} xref: MeSH:D009767 xref: MONDO:0005139 xref: NCIt:C34858 xref: NIFSTD:nlx_dys_20090303 {source="EFO:0001074"} xref: SCTID:83911000119104 {source="MONDO:equivalentTo", source="DOID:11981"} xref: SNOMEDCT:238136002 xref: UMLS:C0028756 {source="MONDO:equivalentTo", source="DOID:11981"} is_a: EFO:0001073 {source="DOID:11981", source="EFO:0001074"} ! obesity property_value: exactMatch DOID:11981 property_value: exactMatch http://identifiers.org/mesh/D009767 property_value: exactMatch http://identifiers.org/snomedct/83911000119104 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0028756 property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001075 name: ovarian carcinoma def: "A malignant neoplasm originating from the surface ovarian epithelium. It accounts for the greatest number of deaths from malignancies of the female genital tract and is the fifth leading cause of cancer fatalities in women. It is predominantly a disease of older white women of northern European extraction, but it is seen in all ages and ethnic groups. Adenocarcinomas constitute the vast majority of ovarian carcinomas. The pattern of metastatic spread in ovarian carcinoma is similar regardless of the microscopic type. The most common sites of involvement are the contralateral ovary, peritoneal cavity, para-aortic and pelvic lymph nodes, and liver. Lung and pleura are the most common sites of extra-abdominal spread. The primary form of therapy is surgical. The overall prognosis of ovarian carcinoma remains poor, a direct result of its rapid growth rate and the lack of early symptoms. --2002" [NCIT:C4908] comment: Editor note: unclear why this is distinct from malignant ovarian epithelial tumor in NCIT. synonym: "carcinoma of ovary" EXACT [MONDO:patterns/carcinoma, NCIT:C4908] synonym: "carcinoma of the ovary" EXACT [NCIT:C4908] synonym: "EOS" EXACT [] synonym: "epithelial ovarian cancer" EXACT [NCIT:C4908] synonym: "ovarian cancer" BROAD [NCIT:C4908] synonym: "ovarian cancer" EXACT [NCIT:C4908] synonym: "ovarian carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "ovarian carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "ovarian carcinoma" EXACT [DOID:4001, NCIT:C4908] synonym: "ovarian epithelial cancer" BROAD [NCIT:C4908] synonym: "ovarian epithelial cancer" EXACT [NCIT:C4908] synonym: "ovary carcinoma" EXACT [MONDO:patterns/location] xref: DOID:4001 {source="EFO:0001075", source="MONDO:equivalentTo"} xref: EFO:0001075 {source="DOID:4001", source="MONDO:equivalentTo"} xref: MONDO:0005140 xref: NCIT:C4908 {source="DOID:4001", source="EFO:0001075", source="MONDO:equivalentTo"} xref: OMIM:167000 is_a: MONDO:0018364 {source="DOID:4001", source="MONDO:Redundant", source="NCIT:C4908"} ! malignant epithelial tumor of ovary relationship: EFO:0000784 UBERON:0000992 ! has_disease_location ovary property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0677886 property_value: exactMatch DOID:4001 property_value: exactMatch DOID:4001 property_value: exactMatch NCIT:C4908 property_value: exactMatch NCIT:C4908 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0001076 name: Pseudomonas infection def: "Infections with bacteria of the genus PSEUDOMONAS." [] def: "Infections with bacteria of the genus pseudomonas." [MESH:D011552] synonym: "Bacterial infection due to Pseudomonas" EXACT [] synonym: "Bacterial infection due to Pseudomonas (disorder)" EXACT [] synonym: "Bacterial infectious disease due to Pseudomonas (disorder)" EXACT [] synonym: "INFECT PSEUDOMONAS" EXACT [] synonym: "Infection, Pseudomonas" EXACT [] synonym: "Infections, Pseudomonas" EXACT [] synonym: "Pseudomonas caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Pseudomonas disease or disorder" EXACT [] synonym: "PSEUDOMONAS INFECT" EXACT [] synonym: "Pseudomonas infection" EXACT [] {comment="preferred label from MONDO"} synonym: "Pseudomonas Infections" EXACT [] synonym: "Pseudomonas infectious disease" EXACT [] xref: ICD9:041.7 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10061471 xref: MESH:D011552 {source="EFO:0001076", source="MONDO:equivalentTo"} xref: MeSH:D011552 xref: MONDO:0005141 xref: SCTID:63398001 {source="EFO:0001076", source="MONDO:equivalentTo"} xref: SNOMEDCT:63398001 is_a: EFO:0000771 {source="EFO:0001076", source="MESH:D011552/inferred", source="MONDO:Redundant"} ! bacterial disease property_value: exactMatch http://identifiers.org/mesh/D011552 property_value: exactMatch http://identifiers.org/snomedct/63398001 property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001077 name: Pseudomonas aeruginosa CF5 infection def: "A Pseudomonas aeruginosa CF5 infection is a Pseudomonas infection of strain CF5." [EFO:0001077] synonym: "Pseudomonas aeruginosa CF5 infection" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0005142 is_a: MONDO:0040732 {source="MONDO:Redundant"} ! Pseudomonas aeruginosa infectious disease property_value: definition:citation "Y. Apidianakis, M.N. Mindrinos, W. Xiao, G.W. Lau, R.L. Baldini, R.W. Davis and L.G. Rahme, Profiling early infection responses: Pseudomonas aeruginosa eludes host defenses by suppressing antimicrobial peptide gene expression, Proc. Natl. Acad. Sci. USA 102 (2005), pp. 2573-2578" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001078 name: Pseudomonas aeruginosa PA14 infection def: "A Pseudomonas aeruginosa PA14 infection is a Pseudomonas infection of strain PA14." [EFO:0001078] synonym: "Pseudomonas aeruginosa PA14 infection" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0005143 is_a: MONDO:0040732 {source="MONDO:Redundant"} ! Pseudomonas aeruginosa infectious disease property_value: definition:citation "Plotnikova, J. M., Rahme, L. G., Ausubel, F. M. (2000). Pathogenesis of the Human Opportunistic Pathogen Pseudomonas aeruginosa PA14 in Arabidopsis. Plant Physiol. 124: 1766-1774" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001079 name: obsolete_Rett syndrome def: "A pervasive developmental disease that is a neurological and developmental disorder that mostly occurs in females and is caused_by a mutation on the MECP2 gene on the X chromosome. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities." [] def: "A pervasive developmental disorder that is a neurological and developmental disorder that mostly occurs in females and is caused_by a mutation on the MECP2 gene on the X chromosome. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities." [] def: "An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear (MeSH)." [] def: "An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199)" [] synonym: "Autism Dementia Ataxia Loss of Purposeful Hand Use Syndrome" EXACT [] synonym: "Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome" EXACT [] synonym: "Cerebroatrophic hyperammonaemia" EXACT [] synonym: "Cerebroatrophic Hyperammonemia" EXACT [] synonym: "Cerebroatrophic Hyperammonemias" EXACT [] synonym: "Hyperammonemia, Cerebroatrophic" EXACT [] synonym: "Hyperammonemias, Cerebroatrophic" EXACT [] synonym: "RETT DIS" EXACT [] synonym: "Rett disorder" EXACT [] synonym: "Rett's disorder" EXACT [] synonym: "Rett's disorder (disorder)" EXACT [] synonym: "Rett's Syndrome" EXACT [] synonym: "RETTS DIS" EXACT [] synonym: "Retts Syndrome" EXACT [] synonym: "RTS - Rett syndrome" EXACT [] synonym: "Syndrome, Rett" EXACT [] synonym: "Syndrome, Rett's" EXACT [] xref: DOID:1206 xref: MeSH:D015518 xref: NIFSTD:birnlex_12770 xref: OMIM:312750 xref: SNOMEDCT:68618008 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_778' instead.\nNew Label : Rett syndrome" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_778 [Term] id: EFO:0001080 name: 267B1 def: "A 267b1 ki ras is a cell line.\nA 267b1 ki ras derives from a prostate." [] synonym: "FNC267B1" EXACT [] xref: RRID:CVCL_4827 is_a: EFO:0002891 ! prostate derived cell line property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string [Term] id: EFO:0001081 name: 267B1 Ki-ras is_a: EFO:0002891 ! prostate derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001082 name: 293T is_a: EFO:0001643 ! kidney derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001083 name: 293TsiLL is_a: EFO:0001643 ! kidney derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001084 name: 3T3-L1 is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002887 ! mouse cell line is_a: EFO:0003040 ! embryonic cell line property_value: definition:citation https://www.atcc.org/products/all/CL-173.aspx xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001085 name: 600MPE is_a: EFO:0002884 ! mammary gland cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001086 name: A549 synonym: "A-549" EXACT [] synonym: "A549 cell" EXACT [] xref: BTO:0000018 xref: CLO:0001601 xref: RRID:CVCL_0023 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0005288 ! non-small cell lung adenocarcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001087 name: AU565 xref: BTO:0004737 xref: CLO:0001769 xref: RRID:CVCL_1074 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001088 name: obsolete_Beas2B property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication, use EFO_0001089 instead" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0001089 [Term] id: EFO:0001089 name: BEAS-2B synonym: "Beas2B" EXACT [] is_a: EFO:0001641 ! epithelial cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001090 name: BJABK3 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001091 name: BL41K3 is_a: BTO:0000164 ! Burkitt lymphoma cell relationship: has_characteristic EFO:0000309 ! Burkitts lymphoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001092 name: BT20 def: "A cell line derived from epithelial cells of human breast carcinoma." [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string [Term] id: EFO:0001093 name: BT474 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001095 name: BT483 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001096 name: BT549 xref: BTO:0002548 xref: CLO:0002044 xref: RRID:CVCL_1092 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001098 name: C2C12 is_a: BTO:0000256 ! myoblast cell line is_a: EFO:0002887 ! mouse cell line property_value: definition:citation https://www.atcc.org/Products/All/CRL-1772.aspx xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001099 name: Caco-2 synonym: "Caco2" EXACT [] xref: BTO:0000195 xref: CLO:0002172 xref: RRID:CVCL_0025 is_a: BTO:0001616 ! colorectal cancer cell line is_a: EFO:0002926 ! ENCODE cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001100 name: CAMA1 xref: BTO:0005022 xref: CLO:0002194 xref: RRID:CVCL_1115 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001101 name: CC531 is_a: BTO:0001616 ! colorectal cancer cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001102 name: CFT-2 is_a: EFO:0001641 ! epithelial cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001103 name: CSBwt-rescued fibroblasts is_a: EFO:0002009 ! fibroblast derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001104 name: obsolete_GLI56 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.65" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Those were obsoleted because they are not cell lines but cell culture. See PMID:1209805 : \"\"We next performed oligonucleotide microarray analysis of duplicates of three short-term cultured glioblastomas (GLI56, GLI60 and GLI72), with each culture studied before and after 5-aza-dC treatment.\"" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0001105 name: obsolete_GLI60 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.65" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Those were obsoleted because they are not cell lines but cell culture. See PMID:1209805 : \"\"We next performed oligonucleotide microarray analysis of duplicates of three short-term cultured glioblastomas (GLI56, GLI60 and GLI72), with each culture studied before and after 5-aza-dC treatment.\"" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0001106 name: obsolete_GLI72 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.65" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Those were obsoleted because they are not cell lines but cell culture. See PMID:1209805 : \"\"We next performed oligonucleotide microarray analysis of duplicates of three short-term cultured glioblastomas (GLI56, GLI60 and GLI72), with each culture studied before and after 5-aza-dC treatment.\"" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0001107 name: GM06985 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001108 name: GM06993 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001109 name: GM06994 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001110 name: GM07000 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001111 name: GM07022 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001112 name: GM07034 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001113 name: GM07055 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001114 name: GM07056 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001115 name: GM07345 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001116 name: GM07357 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001117 name: GM11829 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001118 name: GM11830 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001119 name: GM11831 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001120 name: GM11832 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001121 name: GM11839 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001122 name: GM11881 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001123 name: GM11882 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001124 name: GM11992 is_a: EFO:0001640 ! B cell derived cell line property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001125 name: GM11993 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001126 name: GM11994 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001127 name: GM11995 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001128 name: GM12003 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001129 name: GM12004 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001130 name: GM12005 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001131 name: GM12006 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001132 name: GM12043 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001133 name: GM12044 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001134 name: GM12056 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001135 name: GM12057 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001136 name: GM12144 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001137 name: GM12145 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001138 name: GM12146 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001139 name: GM12154 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001140 name: GM12155 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001141 name: GM12156 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001142 name: GM12234 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001143 name: GM12236 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001144 name: GM12239 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001145 name: GM12248 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001146 name: GM12249 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001147 name: GM12716 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001148 name: GM12717 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001149 name: GM12750 def: "A lymphoblastoid cell line derived from CEPH/UTAH PEDIGREE 1444." [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002933 ! HapMap cell line relationship: OBI:0000295 EFO:0002924 ! is_specified_input_of HapMap haplotype mapping property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001150 name: GM12751 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001151 name: GM12760 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001152 name: GM12761 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001153 name: GM12762 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001154 name: GM12763 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001155 name: GM12812 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line property_value: definition:citation https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM12812&product=CC xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001156 name: GM12813 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line property_value: definition:citation https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM12813&Product=CC xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001157 name: GM12814 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001158 name: GM12815 is_a: EFO:0001640 ! B cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001159 name: GM12872 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line property_value: definition:citation https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM12872&Product=CC xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001160 name: GM12873 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line property_value: definition:citation https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM12873&Product=CC xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001161 name: GM12874 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line property_value: definition:citation https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM12874&Product=CC xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001162 name: GM12875 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line property_value: definition:citation https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM12875&Product=CC xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001163 name: obsolete_GM12891 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.1" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate with EFO_0002785" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0002785 [Term] id: EFO:0001164 name: obsolete_GM12892 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.1" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate with EFO_0002786" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0002786 [Term] id: EFO:0001165 name: obsolete_H209 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.65" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : EFO_0006671 label : NCI-H209" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0006671 [Term] id: EFO:0001166 name: H720 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000702 ! small cell lung carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001167 name: HBL100 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001168 name: HCC1007 def: "A cell line derived from epithelial cells of human breast carcinoma." [] synonym: "HCC-1007" EXACT [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string [Term] id: EFO:0001169 name: HCC1143 synonym: "HCC-1143" EXACT [] xref: CLO:0003630 xref: RRID:CVCL_1245 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001170 name: HCC1187 synonym: "HCC-1187" EXACT [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001171 name: HCC1428 synonym: "HCC-1428" EXACT [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001172 name: HCC1500 synonym: "HCC-1500" EXACT [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001173 name: HCC1569 synonym: "HCC-1569" EXACT [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001174 name: HCC1937 synonym: "HCC-1937" EXACT [] xref: CLO:0003645 xref: RRID:CVCL_0290 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001175 name: HCC1954 synonym: "HCC-1954" EXACT [] xref: BTO:0005368 xref: CLO:0003647 xref: RRID:CVCL_1259 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001176 name: HCC202 synonym: "HCC-202" EXACT [] xref: CLO:0003649 xref: RRID:CVCL_2062 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001177 name: HCC2157 synonym: "HCC-2157" EXACT [] xref: CLO:0003650 xref: RRID:CVCL_1261 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001178 name: HCC2185 synonym: "HCC-2185" EXACT [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001179 name: HCC3153 synonym: "HCC-3153" EXACT [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001180 name: HCC38 synonym: "HCC-38" EXACT [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001181 name: HCC70 synonym: "HCC-70" EXACT [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001182 name: HEK293 synonym: "human embryonic kidney cell" EXACT [] xref: BTO:0000007 xref: CLO:0001230 xref: MCC:0000006 xref: RRID:CVCL_0045 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0001643 ! kidney derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001183 name: HEK-293H is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0001643 ! kidney derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001184 name: HEK293T xref: BTO:0002181 xref: CLO:0037372 xref: RRID:CVCL_0063 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0001643 ! kidney derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001185 name: HeLa def: "A cell line derived from epithelial cells of human cervical carcinoma." [] xref: BTO:0000567 xref: CLO:0003684 xref: NCIt:C20226 xref: RRID:CVCL_0030 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005218 ! cervical carcinoma cell line relationship: has_characteristic EFO:0001061 ! cervical carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string [Term] id: EFO:0001186 name: HepaRG xref: BTO:0005736 xref: RRID:CVCL_9720 is_a: EFO:0005216 ! hepatoma cell line relationship: has_characteristic EFO:0000182 ! hepatocellular carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001187 name: HepG2 def: "human hepatocellular carcinoma (HCC) cells (p53-wt)." [] synonym: "Hep-G2" EXACT [] synonym: "HepG2 cell" EXACT [] xref: CLO:0003704 xref: RRID:CVCL_0027 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0005216 ! hepatoma cell line relationship: has_characteristic EFO:0000182 ! hepatocellular carcinoma relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0001188 name: HMEC is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001189 name: HMEC S1 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001190 name: HMEC184 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001191 name: HMT3522S1 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001192 name: HS578T is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001193 name: HT-29 xref: BTO:0000182 xref: CLO:0004283 xref: RRID:CVCL_0320 is_a: BTO:0001616 ! colorectal cancer cell line is_a: BTO:0003250 ! colonic epithelium cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001194 name: IB3-1 is_a: EFO:0001641 ! epithelial cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001195 name: IMR-32 def: "A cell line derived from vertebrate neuroblastoma." [] xref: BTO:0000934 xref: CLO:0006948 xref: RRID:CVCL_0346 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005214 ! neuroblastoma cell line relationship: has_characteristic EFO:0000621 ! neuroblastoma property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string [Term] id: EFO:0001196 name: IMR-90 def: "Human Fetal Lung Fibroblast cell line" [] synonym: "IMR90" EXACT [] xref: BTO:0001229 xref: CLO:0006951 xref: RRID:CVCL_0347 is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001197 name: Kin-S49 is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000574 ! lymphoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001198 name: L3055 is_a: BTO:0000164 ! Burkitt lymphoma cell relationship: has_characteristic EFO:0000309 ! Burkitts lymphoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001199 name: LY2 def: "A cell line derived from epithelial cells of a breast carcinoma." [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string [Term] id: EFO:0001200 name: MCF 10A xref: RRID:CVCL_0598 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001202 name: MCF12A is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001203 name: MCF-7 def: "Human breast adenocarcinoma, established from the pleural effusion of a 69-year-old caucasian woman with metastatic mammary carcinoma (after radio- and hormone therapy) in 1970; cells were described of being positive for cytoplasmic estrogen receptors and having the capability to form domes." [] synonym: "MCF-7 cell" EXACT [] synonym: "MCF7" EXACT [] synonym: "MCF7 cell" EXACT [] xref: BTO:0000093 xref: MCC:0000307 xref: NCIt:C18096 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0005215 ! breast adenocarcinoma cell line relationship: has_characteristic EFO:0000304 ! breast adenocarcinoma relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001205 name: MDAMB134VI synonym: "MDA-MB-134VI" EXACT [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001206 name: MDAMB157 synonym: "MDA-MB-157" EXACT [] synonym: "MDAMB-157" EXACT [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001207 name: obsolete_MDAMB-157 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.8" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate of EFO_0001206" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0001206 [Term] id: EFO:0001208 name: MDAMB175VII synonym: "MDA-MB-175VII" EXACT [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001209 name: MDAMB231 synonym: "MDA-MB-231" EXACT [] xref: BTO:0000815 xref: CLO:0007634 xref: RRID:CVCL_0062 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001211 name: MDAMB361 synonym: "MB36" EXACT [] synonym: "MDA-361" EXACT [] synonym: "MDA-MB-361" EXACT [] synonym: "MDA361" EXACT [] xref: BTO:0001569 xref: CLO:0007636 xref: RRID:CVCL_0620 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001212 name: MDAMB415 synonym: "MDA-MB-415" EXACT [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001213 name: MDAMB435 comment: Was originally considered to be a breast cancer cell line but has since been identified as a melanoma cell line. synonym: "MDA-MB-435" EXACT [] xref: NCIt:C117184 is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0001641 ! epithelial cell derived cell line relationship: has_characteristic EFO:0000756 ! melanoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001214 name: MDAMB436 synonym: "MB436" EXACT [] synonym: "MDA-MB-436" EXACT [] synonym: "MDA436" EXACT [] xref: BTO:0001568 xref: CLO:0007639 xref: RRID:CVCL_0623 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001215 name: MDAMB453 synonym: "MDA-MB-453" EXACT [] xref: BTO:0001908 xref: CLO:0007640 xref: RRID:CVCL_0418 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001216 name: MDAMB468 synonym: "MDA-MB-468" EXACT [] xref: BTO:0001570 xref: CLO:0007641 xref: NCIt:C117224 xref: RRID:CVCL_0419 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001218 name: Met5A is_a: EFO:0001641 ! epithelial cell derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001219 name: MM1 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0001378 ! multiple myeloma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001220 name: MOLT-4 synonym: "GM02219" EXACT [] synonym: "GM02219C" EXACT [] synonym: "GM02219D" EXACT [] synonym: "GM2219C" EXACT [] synonym: "MOLT4" EXACT [] xref: BTO:0000873 xref: CLO:0007825 xref: NCIt:C117119 xref: RRID:CVCL_0013 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000220 ! acute lymphoblastic leukemia property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001221 name: NCI-H929 def: "A cell line derived from bone marrow multiple myeloma B cells." [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0001378 ! multiple myeloma property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string [Term] id: EFO:0001222 name: NIH3T3 synonym: "NIH-3T3" EXACT [] synonym: "NIH/3T3" EXACT [] xref: CLO:0008172 is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002887 ! mouse cell line is_a: EFO:0003040 ! embryonic cell line property_value: definition:citation https://www.atcc.org/products/all/CRL-1658.aspx xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001223 name: NIH3T3-L1 is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002887 ! mouse cell line is_a: EFO:0003040 ! embryonic cell line relationship: RO:0001000 EFO:0001222 ! derives_from NIH3T3 property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001224 name: PAC2 is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002940 ! zebrafish cell line is_a: EFO:0003040 ! embryonic cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001225 name: PC12 is_a: EFO:0002936 ! rat cell line relationship: has_characteristic EFO:0000239 ! adrenal gland pheochromocytoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001226 name: R18 is_a: EFO:0001639 ! cancer cell line relationship: has_characteristic EFO:0000519 ! glioblastoma multiforme property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001227 name: R28 is_a: EFO:0001639 ! cancer cell line relationship: has_characteristic EFO:0000519 ! glioblastoma multiforme property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001228 name: R43 is_a: EFO:0001639 ! cancer cell line relationship: has_characteristic EFO:0000519 ! glioblastoma multiforme property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001229 name: R46 is_a: EFO:0001639 ! cancer cell line relationship: has_characteristic EFO:0000519 ! glioblastoma multiforme property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001230 name: R8 is_a: EFO:0001639 ! cancer cell line relationship: has_characteristic EFO:0000519 ! glioblastoma multiforme property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001231 name: RAW264.7 is_a: BTO:0002278 ! macrophage cell line is_a: EFO:0002887 ! mouse cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001232 name: RKO is_a: BTO:0001616 ! colorectal cancer cell line is_a: BTO:0003250 ! colonic epithelium cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001233 name: S2 def: "Insect - fruitfly (Drosophila melanogaster) cell line, established from the late embryo of a Drosophila melanogaster (fruitfly) in 1972; originally the cells were diploid with 5-10% XY, currently the cell line has only XX cells that are now 60-80% tetraploid." [] synonym: "S-2 cell" EXACT [] synonym: "S2 cell" EXACT [] synonym: "Schneider" EXACT [] synonym: "Schneider cell" EXACT [] synonym: "SCHNEIDER S2 Cell" EXACT [] synonym: "Schneider's Line S2 cell" EXACT [] synonym: "SCHNEIDER-2 cell" EXACT [] synonym: "SL2" EXACT [] synonym: "SL2 cell" EXACT [] xref: BTO:0001677 xref: NCIt:C111071 is_a: EFO:0002935 ! Drosophila melanogaster cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001234 name: S49 synonym: "SchneiderSL2" EXACT [] is_a: EFO:0002887 ! mouse cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000574 ! lymphoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001236 name: SKBR3 def: "A cell line derived from epithelial cells of human breast carcinoma." [] xref: BTO:0002419 xref: CLO:0037295 xref: RRID:CVCL_0033 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string [Term] id: EFO:0001237 name: SKGT4 synonym: "SK-GT-4" EXACT [] synonym: "SK4" EXACT [] xref: RRID:CVCL_2195 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line relationship: has_characteristic EFO:0000478 ! esophageal adenocarcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001239 name: SUM1315MO2 xref: CLO:0009916 xref: RRID:CVCL_5589 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001240 name: SUM149PT synonym: "149PT" EXACT [] synonym: "BrCL12" EXACT [] synonym: "SUM 149" EXACT [] synonym: "SUM 149PT" EXACT [] synonym: "SUM-149" EXACT [] synonym: "SUM-149PT" EXACT [] synonym: "SUM149" EXACT [] xref: BTO:0005475 xref: CLO:0009917 xref: PMID:10604729 xref: PMID:10718481 xref: RRID:CVCL_3422 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0001241 name: SUM159PT synonym: "159PT" EXACT [] synonym: "SUM 159" EXACT [] synonym: "SUM 159PT" EXACT [] synonym: "SUM-159" EXACT [] synonym: "SUM-159PT" EXACT [] synonym: "SUM159" EXACT [] xref: BTO:0004928 xref: PMID:10604729 xref: PMID:10718481 xref: RRID:CVCL_5423 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0001242 name: SUM185PE synonym: "185PE" EXACT [] synonym: "SUM 185" EXACT [] synonym: "SUM 185PE" EXACT [] synonym: "SUM-185" EXACT [] synonym: "SUM-185PE" EXACT [] synonym: "SUM185" EXACT [] xref: BTO:0005476 xref: CLO:0009919 xref: PMID:10604729 xref: PMID:10718481 xref: RRID:CVCL_5591 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0001243 name: SUM190PT synonym: "SUM 190" EXACT [] synonym: "SUM 190PT" EXACT [] synonym: "SUM-190" EXACT [] synonym: "SUM-190PT" EXACT [] synonym: "SUM190" EXACT [] xref: PMID:10604729 xref: PMID:10718481 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0001244 name: SUM225CWN synonym: "SUM 225" EXACT [] synonym: "SUM 225CWN" EXACT [] synonym: "SUM-225" EXACT [] synonym: "SUM-225CWN" EXACT [] synonym: "SUM225" EXACT [] xref: PMID:10604729 xref: PMID:10718481 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0001245 name: SUM44PE synonym: "SUM 44" EXACT [] synonym: "SUM 44PE" EXACT [] synonym: "SUM-44" EXACT [] synonym: "SUM-44PE" EXACT [] synonym: "SUM44" EXACT [] xref: PMID:10604729 xref: PMID:10718481 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0001246 name: SUM52PE synonym: "52PE" EXACT [] synonym: "SUM 52" EXACT [] synonym: "SUM 52PE" EXACT [] synonym: "SUM-52" EXACT [] synonym: "SUM-52PE" EXACT [] synonym: "SUM52" EXACT [] xref: BTO:0005390 xref: CLO:0037189 xref: PMID:10604729 xref: PMID:10718481 xref: RRID:CVCL_3425 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0001247 name: T47D is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001249 name: TERV def: "A TERV is a cell line.\nA TERV derives from a kidney." [] is_a: EFO:0001643 ! kidney derived cell line property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string [Term] id: EFO:0001250 name: TERV-AntiSenseB56 is_a: EFO:0001643 ! kidney derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001251 name: TERV-ST is_a: EFO:0001643 ! kidney derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001252 name: TERV-ST110 is_a: EFO:0001643 ! kidney derived cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001253 name: THP-1 def: "A human cell line derived from peripheral blood monocytes. The patient was a 1-year-old male infant with acute monocytic leukemia." [] synonym: "THP1" EXACT [] xref: BTO:0001370 xref: CLO:0009348 xref: https://www.atcc.org/products/all/TIB-202.aspx xref: RRID:CVCL_0006 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000221 ! acute monocytic leukemia relationship: RO:0001000 UBERON:0000178 ! derives_from blood property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001254 name: U266 synonym: "U-266" EXACT [] synonym: "U266B1" EXACT [] xref: BTO:0001594 xref: CLO:0009457 xref: RRID:CVCL_0566 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0001378 ! multiple myeloma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001255 name: U373 synonym: "373 MG" EXACT [] synonym: "U373-MG" EXACT [] xref: BTO:0002126 xref: CLO:0009460 xref: RRID:CVCL_2219 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line relationship: has_characteristic EFO:0000519 ! glioblastoma multiforme property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001256 name: obsolete_U87 synonym: "U-87 cell" EXACT [] synonym: "U-87 MG" EXACT [] property_value: definition:citation "Catherine Leroy" xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.65" xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "use EFO_0005237 label U87" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0001257 name: U937 xref: CLO:0009465 xref: RRID:CVCL_0007 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000574 ! lymphoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001258 name: UACC812 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001259 name: UBOC1 synonym: "UBOC-1" EXACT [] is_a: EFO:0002887 ! mouse cell line property_value: IAO:0000117 "James Malone" xsd:string created_by: An organ of corti derived cell line [Term] id: EFO:0001260 name: WI38 synonym: "AG06814-J" EXACT [] synonym: "AG06814-M" EXACT [] synonym: "AG06814-N" EXACT [] synonym: "AG06814E" EXACT [] synonym: "AG06814G" EXACT [] synonym: "AG06814H" EXACT [] synonym: "AG06814J" EXACT [] xref: BTO:0000458 xref: CLO:0009591 xref: CLO:0009594 xref: RRID:CVCL_0579 is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002922 ! normal cell line relationship: has_characteristic PATO:0000461 ! normal property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001261 name: ZF4 is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002940 ! zebrafish cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001262 name: ZR751 xref: BTO:0003136 xref: CLO:0009727 xref: RRID:CVCL_0588 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001263 name: ZR7530 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001264 name: ZR75B is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001265 name: obsolete_female property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.62" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "moving toward PATO quality space, use PATO_0000383 instead." xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PATO_0000383 [Term] id: EFO:0001266 name: obsolete_male property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.62" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "moving toward PATO quality space, use PATO_0000384 instead." xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PATO_0000384 [Term] id: EFO:0001267 name: obsolete_hermaphrodite property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.62" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "moving toward PATO quality space, use PATO_0001340 instead." xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PATO_0001340 [Term] id: EFO:0001268 name: mating type def: "A mating type is a biomaterial factor which describes the type of sexual reproduction through isogamy occur in eukaryotes that undergo." [] is_a: BFO:0000019 ! quality property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001269 name: mating type h minus def: "A S. pombe mating type determined by the mat1-Mc and mat1-Mi on the mat1 locus." [] synonym: "h minus" EXACT [] synonym: "mating_type_h_minus" EXACT [] xref: MO:407 xref: PATO:0001345 is_a: EFO:0001268 ! mating type property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001270 name: mating type alpha def: "A S. cerevisiae mating type cells that secrete a pheromone that stimulates a haploids." [] synonym: "alpha" EXACT [] synonym: "alpha mating type (yeast)" EXACT [] synonym: "mating_type_alpha" EXACT [] xref: MO:637 xref: NCIt:C72484 xref: NCIt:C86942 xref: PATO:0001344 xref: SNOMEDCT:263660008 is_a: EFO:0001268 ! mating type property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001271 name: mixed sex population def: "A biological sex quality inhering in a population of multiple sexes." [] def: "The total number of individuals inhabiting a particular region or area." [] xref: PATO:0001338 is_a: OBI:0000181 ! population property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001272 name: adult def: "A maturity quality inhering in an individual by virtue of the individual having attained sexual maturity and full growth" [] synonym: "adult stage" EXACT [] xref: EV:0300070 xref: EVM:2990028 xref: FBdv:00005369 xref: MAT:0000403 xref: MeSH:D000328 xref: NCIt:C17600 xref: NIFSTD:birnlex_228 xref: NIFSTD:birnlex_681 xref: SNOMEDCT:133936004 xref: WBls:0000041 xref: XAO:1000009 is_a: EFO:0000399 ! developmental stage property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "OntologyMappingImporter following MAT:0000403" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001273 name: blastula 128-cell synonym: "Blastula:128-cell" EXACT [] xref: ZFS:0000008 is_a: UBERON:0000108 ! blastula stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001274 name: blastula 1k-cell synonym: "Blastula:1k-cell" EXACT [] xref: ZFS:0000011 is_a: UBERON:0000108 ! blastula stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001275 name: mating type a def: "A S. cerevisiae mating type cells that secrete a pheromone that in alpha haploids stimulates processes that lead to mating." [] synonym: "a mating type (yeast)" EXACT [] synonym: "mating_type_a" EXACT [] xref: MO:659 xref: PATO:0001341 is_a: EFO:0001268 ! mating type property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001276 name: blastula 256-cell synonym: "Blastula:256-cell" EXACT [] xref: ZFS:0000009 is_a: UBERON:0000108 ! blastula stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001277 name: blastula 30%-epiboly synonym: "Blastula:30%-epiboly" EXACT [] xref: ZFS:0000016 is_a: UBERON:0000108 ! blastula stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001278 name: blastula 512-cell synonym: "Blastula:512-cell" EXACT [] xref: ZFS:0000010 is_a: UBERON:0000108 ! blastula stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001279 name: blastula dome synonym: "Blastula:Dome" EXACT [] xref: ZFS:0000015 is_a: UBERON:0000108 ! blastula stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001280 name: blastula high synonym: "Blastula:High" EXACT [] xref: ZFS:0000012 is_a: UBERON:0000108 ! blastula stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001281 name: blastula oblong synonym: "Blastula:Oblong" EXACT [] xref: ZFS:0000013 is_a: UBERON:0000108 ! blastula stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001282 name: obsolete_blastula stage synonym: "blastoderm stage" EXACT [] synonym: "blastula embryo" EXACT [] xref: EVM:2990005 xref: FBdv:00005304 xref: WBls:0000005 xref: XAO:1000003 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000108\nlabel: blastula stage" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000108 [Term] id: EFO:0001283 name: blastula sphere synonym: "Blastula:Sphere" EXACT [] xref: ZFS:0000014 is_a: UBERON:0000108 ! blastula stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001284 name: cleavage 16-cell synonym: "Cleavage:16-cell" EXACT [] xref: ZFS:0000005 is_a: UBERON:0000107 ! cleavage stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001285 name: cleavage 2-cell synonym: "Cleavage:2-cell" EXACT [] xref: ZFS:0000002 is_a: UBERON:0000107 ! cleavage stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001286 name: cleavage 32-cell synonym: "Cleavage:32-cell" EXACT [] xref: ZFS:0000006 is_a: UBERON:0000107 ! cleavage stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001287 name: cleavage 4-cell synonym: "Cleavage:4-cell" EXACT [] xref: ZFS:0000003 is_a: UBERON:0000107 ! cleavage stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001288 name: cleavage 64-cell synonym: "Cleavage:64-cell" EXACT [] xref: ZFS:0000007 is_a: UBERON:0000107 ! cleavage stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001289 name: cleavage 8-cell synonym: "Cleavage:8-cell" EXACT [] xref: ZFS:0000004 is_a: UBERON:0000107 ! cleavage stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001290 name: obsolete_cleavage stage property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrry.org/obo/UBERON_0000107\nlabel: cleavage stage" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000107 [Term] id: EFO:0001291 name: gastrula 50%-epiboly synonym: "Gastrula:50%-epiboly" EXACT [] xref: ZFS:0000017 is_a: UBERON:0000109 ! gastrula stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001292 name: gastrula 75%-epiboly synonym: "Gastrula:75%-epiboly" EXACT [] xref: ZFS:0000020 is_a: UBERON:0000109 ! gastrula stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001293 name: gastrula 90%-epiboly synonym: "Gastrula:90%-epiboly" EXACT [] xref: ZFS:0000021 is_a: UBERON:0000109 ! gastrula stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001294 name: gastrula bud synonym: "Gastrula:Bud" EXACT [] xref: ZFS:0000022 is_a: UBERON:0000109 ! gastrula stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001295 name: gastrula germ-ring synonym: "Gastrula:Germ-ring" EXACT [] xref: ZFS:0000018 is_a: UBERON:0000109 ! gastrula stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001296 name: obsolete_gastrula stage synonym: "gastrula" EXACT [] synonym: "gastrulating mbryo" EXACT [] xref: EVM:2990009 xref: FBdv:00005317 xref: MAT:0000063 xref: WBls:0000010 xref: XAO:1000005 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000109\nlabel: gastrula stage" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000109 [Term] id: EFO:0001297 name: gastrula shield synonym: "Gastrula:Shield" EXACT [] xref: ZFS:0000019 is_a: UBERON:0000109 ! gastrula stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001298 name: hatching stage synonym: "Hatching:Long-pec" EXACT [] xref: ZFS:0000033 is_a: EFO:0000399 ! developmental stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001299 name: hatching pec-fin synonym: "Hatching:Pec-fin" EXACT [] xref: ZFS:0000034 is_a: EFO:0001298 ! hatching stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001300 name: obsolete_juvenile stage synonym: "child" EXACT [] synonym: "young adult" EXACT [] xref: EV:0300051 xref: MAT:0000402 xref: XAO:1000010 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000112\nlabel: juvenile stage" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0034919 [Term] id: EFO:0001301 name: juvenile days 30-44 synonym: "Juvenile:Days 30-44" EXACT [] xref: ZFS:0000042 is_a: UBERON:0000112 ! sexually immature stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001302 name: juvenile days 45-89 synonym: "Juvenile:Days 45-89" EXACT [] xref: ZFS:0000043 is_a: UBERON:0000112 ! sexually immature stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001303 name: obsolete_larval stage synonym: "tadpole stage" EXACT [] xref: FBdv:00005336 xref: MAT:0000400 xref: WBls:0000023 xref: XAO:1000008 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000069\nlabel: larval stage" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000069 [Term] id: EFO:0001304 name: larval day 4 synonym: "Larval:Day 4" EXACT [] xref: ZFS:0000036 is_a: EFO:0007695 ! Danio rerio larval stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001305 name: larval day 5 synonym: "Larval:Day 5" EXACT [] xref: ZFS:0000037 is_a: EFO:0007695 ! Danio rerio larval stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001306 name: larval day 6 synonym: "Larval:Day 6" EXACT [] xref: ZFS:0000038 is_a: EFO:0007695 ! Danio rerio larval stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001307 name: larval day 14-20 synonym: "Larval:Days 14-20" EXACT [] xref: ZFS:0000040 is_a: EFO:0007695 ! Danio rerio larval stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001308 name: larval day 21-29 synonym: "Larval:Days 21-29" EXACT [] xref: ZFS:0000041 is_a: EFO:0007695 ! Danio rerio larval stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001309 name: larval day 7-13 synonym: "Larval:Days 7-13" EXACT [] xref: ZFS:0000039 is_a: EFO:0007695 ! Danio rerio larval stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001310 name: obsolete_pharyngula stage def: "The pharyngula is a developmental stage in embryonic development which follows the blastula, gastrula and neurula stages." [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0004707\nlabel: pharyngula stage" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0004707 [Term] id: EFO:0001311 name: pharyngula high-pec synonym: "Pharyngula:High-pec" EXACT [] xref: ZFS:0000032 is_a: UBERON:0004707 ! pharyngula stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001312 name: pharyngula prim-15 synonym: "Pharyngula:Prim-15" EXACT [] xref: ZFS:0000030 is_a: UBERON:0004707 ! pharyngula stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001313 name: pharyngula prim-25 synonym: "Pharyngula:Prim-25" EXACT [] xref: ZFS:0000031 is_a: UBERON:0004707 ! pharyngula stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001314 name: pharyngula prim-5 synonym: "Pharyngula:Prim-5" EXACT [] xref: ZFS:0000029 is_a: UBERON:0004707 ! pharyngula stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001315 name: segmentation stage is_a: EFO:0000399 ! developmental stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001316 name: segmentation 1-4 somites synonym: "Segmentation:1-4 somites" EXACT [] xref: ZFS:0000023 is_a: EFO:0001315 ! segmentation stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001317 name: segmentation 5-9 somites synonym: "Segmentation:5-9 somites" EXACT [] xref: ZFS:0000024 is_a: EFO:0001315 ! segmentation stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001318 name: segmentation 10-13 somites synonym: "Segmentation:10-13 somites" EXACT [] xref: ZFS:0000025 is_a: EFO:0001315 ! segmentation stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001319 name: segmentation 14-19 somites synonym: "Segmentation:14-19 somites" EXACT [] xref: ZFS:0000026 is_a: EFO:0001315 ! segmentation stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001320 name: segmentation 20-25 somites synonym: "Segmentation:20-25 somites" EXACT [] xref: ZFS:0000027 is_a: EFO:0001315 ! segmentation stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001321 name: segmentation 26+ somites synonym: "Segmentation:26+ somites" EXACT [] xref: ZFS:0000028 is_a: EFO:0001315 ! segmentation stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001322 name: fertilized egg stage def: "Small but distinctive epithelial sac containing fluid, located midventrally posterior to the yolk cell or its extension, and transiently present during most of the segmentation period. Kupffer's vesicle has been compared to the mouse embryonic node." [] synonym: "Kupffer's vesicle" EXACT [] synonym: "one-cell stage" EXACT [] synonym: "Zygote:1-cell" EXACT [] xref: EHDAA:27 xref: EMAPA:16033 xref: EVM:2990001 xref: FBdv:00005288 xref: MFO:0005280 xref: XAO:0000035 xref: ZFA:0000001 xref: ZFS:0000001 is_a: EFO:0000399 ! developmental stage property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001323 name: obsolete_fetus synonym: "embryo late (growth) stage" EXACT [] xref: EV:0300011 xref: EVM:2990031 xref: FBdv:0005333 xref: MAT:0000399 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0000323 label : late embryo" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000323 [Term] id: EFO:0001324 name: obsolete_Drosophila melanogaster strain def: "Strain or line specific to Drosophila melanogaster" [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.0.1" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "consolodation of strain with taxon, all subclasses moved to Drosophila melanogaster" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/NCBITaxon_7227 [Term] id: EFO:0001325 name: Canton-S synonym: "Canton S" EXACT [] is_a: NCBITaxon:7227 ! Drosophila melanogaster property_value: definition:citation "FBst0000001" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001326 name: SALK_049497 def: "SALK_049497 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=germplasm&id=4652085" [] xref: Germplasm:4652085 is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001327 name: A/J def: "A/J is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/000646.html" [] synonym: "A" EXACT [] synonym: "AJ" EXACT [] xref: NIFSTD:birnlex_577 is_a: NCBITaxon:10090 ! Mus musculus property_value: definition:citation http://jaxmice.jax.org/strain/000646.html xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001328 name: B6.Cg-Tg(SOD1-G93A)1Gur/J def: "B6.Cg-Tg(SOD1-G93A)1Gur/J is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/004435.html" [] xref: JAX:004435 is_a: NCBITaxon:10090 ! Mus musculus property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001329 name: C3H/HeJ def: "C3H/HeJ is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/000659.html" [] synonym: "C3" EXACT [] synonym: "C3H" EXACT [] synonym: "C3H Heston" EXACT [] xref: JAX:000659 is_a: NCBITaxon:10090 ! Mus musculus property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001330 name: obsolete_C57BL/6J def: "A/J is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/000664.html" [] xref: JAX:000664 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.8" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate use EFO_0000605" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000605 [Term] id: EFO:0001331 name: 129P1/ReJ xref: NIFSTD:birnlex_152 is_a: EFO:0000597 ! 129 mouse strain property_value: definition:citation http://jaxmice.jax.org/strain/001137.html xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001332 name: 129S1/SvImJ synonym: "129S1" EXACT [] xref: NIFSTD:birnlex_106 is_a: EFO:0000597 ! 129 mouse strain property_value: definition:citation http://jaxmice.jax.org/strain/002248.html xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001333 name: obsolete_jejunum def: "The portion of the small intestine that extends from the duodenum to the ileum." [] def: "The section of the small intestine that comprises the first two fifths beyond the duodenum and that is larger, thicker-walled, and more vascular and has more circular folds than the ileum." [] synonym: "intestinum jejunum" EXACT [] synonym: "mid intestine" EXACT [] synonym: "middle intestine" EXACT [] xref: BTO:0000657 xref: EV:0100074 xref: FMA:7207 xref: MA:0000340 xref: MAT:0000045 xref: NCIt:C12388 xref: SAEL:56 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002115\nlabel: jejunum" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002115 [Term] id: EFO:0001334 name: obsolete_ileum def: "The final section of the small intestine." [] def: "The last division of the small intestine extending between the jejunum and large intestine." [] synonym: "distal intestine" EXACT [] synonym: "intestinum ileum" EXACT [] synonym: "lower intestine" EXACT [] synonym: "posterior intestine" EXACT [] xref: BTO:0000620 xref: EV:0100075 xref: FMA:7208 xref: MA:0000339 xref: MAT:0000282 xref: NCIt:C12387 xref: SAEL:53 xref: XAO:0000237 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002116\nlabel: ileum" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002116 [Term] id: EFO:0001335 name: obsolete_behavioural disease def: "A disease of or relating to the manner that an organism conducts itself involving action and response to stimulation or the response of an individual, group, or species to its environment." [] xref: DOID:150 xref: ICD9:290-319.99 xref: ICD9:300-316.99 xref: ICD9:307 xref: ICD9:307.5 xref: ICD9:307.59 xref: ICD9:307.9 xref: SNOMEDCT:192637001 xref: SNOMEDCT:192639003 xref: SNOMEDCT:268721001 xref: SNOMEDCT:74732009 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.5" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "merged with EFO_0000677" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000677 [Term] id: EFO:0001336 name: CBA/CaJ def: "CBA/CaJ is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/000654.html" [] synonym: "CBA Carter J" EXACT [] synonym: "CBA/Ca" EXACT [] xref: JAX:000654 is_a: NCBITaxon:10090 ! Mus musculus property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001337 name: BDC2.5/NOD def: "A mouse strain developed by selection for diabetes (high fasting blood glucose) from F6 of the CTS strain" [] def: "BDC2.5/NOD is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/004460.html" [] xref: JAX:004460 is_a: EFO:0002547 ! NOD mouse property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001338 name: TBP-71Q-16 def: "TBP-71Q-16 is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/008216.html" [] xref: JAX:008216 is_a: NCBITaxon:10090 ! Mus musculus property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001339 name: CB6F1 def: "CB6F1 is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/100007.html" [] xref: JAX:100007 is_a: NCBITaxon:10090 ! Mus musculus property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001340 name: B6C3F1 def: "B6C3F1 is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/100010.html" [] xref: JAX:100010 is_a: NCBITaxon:10090 ! Mus musculus property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001341 name: TBP-105Q def: "TBP-105Q is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/008075.html" [] xref: JAX:8075 is_a: NCBITaxon:10090 ! Mus musculus property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001342 name: Wistar xref: NIFSTD:birnlex_320 xref: RGD:10044 is_a: NCBITaxon:10116 ! Rattus norvegicus property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001343 name: Wistar-Furth xref: RGD:1357955 is_a: NCBITaxon:10116 ! Rattus norvegicus property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001344 name: Copenhagen xref: RGD:1358153 is_a: NCBITaxon:10116 ! Rattus norvegicus property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001345 name: Wistar-Kyoto xref: RGD:1359002 is_a: NCBITaxon:10116 ! Rattus norvegicus property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001346 name: Syracuse High Avoidance xref: RGD:1578695 is_a: NCBITaxon:10116 ! Rattus norvegicus property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001347 name: Syracuse Low Avoidance xref: RGD:1578703 is_a: NCBITaxon:10116 ! Rattus norvegicus property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001348 name: Okamoto-Aoki xref: RGD:1581618 is_a: NCBITaxon:10116 ! Rattus norvegicus property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001349 name: Dahl salt-resistant xref: RGD:1582184 is_a: NCBITaxon:10116 ! Rattus norvegicus property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001350 name: Dahl salt-sensitive xref: RGD:1582190 is_a: NCBITaxon:10116 ! Rattus norvegicus property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001351 name: WKY xref: RGD:61103 is_a: NCBITaxon:10116 ! Rattus norvegicus property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001352 name: Sprague Dawley synonym: "Rats, Sprague Dawley" EXACT [] synonym: "Sprague-Dawley rat" EXACT [] synonym: "Sprague-Dawley rats" EXACT [] xref: NIFSTD:birnlex_214 xref: NIFSTD:birnlex_266 xref: RGD:70508 xref: SNOMEDCT:44543009 is_a: NCBITaxon:10116 ! Rattus norvegicus property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001353 name: Lewis synonym: "LEW" EXACT [] synonym: "LEW/Crl" EXACT [] synonym: "LEW/CrlBR" EXACT [] synonym: "MDC-01-40" EXACT [] xref: RGD:737932 is_a: NCBITaxon:10116 ! Rattus norvegicus property_value: IAO:0000116 "Developed by Dr. Lewis from Wistar stock in the early 1950s. To Charles River from Tulane in 1970 at F34." xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001354 name: SALK_037727 def: "SALK_037727 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=germplasm&id=4640315" [] xref: Germplasm:4640315 is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001355 name: infant xref: MeSH:D007223 xref: MIAA:0000402 xref: NCIt:C27956 xref: NIFSTD:birnlex_438 xref: NIFSTD:birnlex_695 xref: SNOMEDCT:133931009 is_a: EFO:0000399 ! developmental stage property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001356 name: familial amyotrophic lateral sclerosis def: "An instance of amyotrophic lateral sclerosis that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] def: "Familial amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which a family history of the disease exists." [] synonym: "familial amyotrophic lateral sclerosis" EXACT [] {comment="preferred label from MONDO"} synonym: "hereditary amyotrophic lateral sclerosis" EXACT [MONDO:patterns/hereditary] xref: MedDRA:10077024 xref: MONDO:0005144 xref: OMIM:105400 xref: OMIM:205100 xref: OMIM:300857 xref: OMIM:612069 xref: OMIM:612577 xref: OMIM:613435 xref: OMIM:613954 xref: OMIM:614373 xref: OMIM:614696 xref: OMIM:614808 xref: OMIM:615426 xref: OMIM:615515 xref: OMIMPS:105400 {source="MONDO:equivalentTo", source="DOID:332"} is_a: MONDO:0004976 {source="EFO:0001356", source="MONDO:Redundant"} ! amyotrophic lateral sclerosis is_a: MONDO:0024257 ! hereditary motor neuron disease intersection_of: MONDO:0004976 ! amyotrophic lateral sclerosis intersection_of: has_characteristic MONDO:0021152 ! inherited disjoint_from: EFO:0001357 ! sporadic amyotrophic lateral sclerosis property_value: exactMatch https://omim.org/phenotypicSeries/PS105400 property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001357 name: sporadic amyotrophic lateral sclerosis def: "Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history." [EFO:0001357] synonym: "sporadic amyotrophic lateral sclerosis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0080917 {source="MONDO:equivalentTo"} xref: MONDO:0005145 xref: OMIM:105400 xref: OMIM:608030 is_a: MONDO:0004976 {source="EFO:0001357"} ! amyotrophic lateral sclerosis property_value: exactMatch DOID:0080917 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001358 name: post-traumatic stress disorder def: "A class of traumatic stress disorders with symptoms that last more than one month. There are various forms of post-traumatic stress disorder, depending on the time of onset and the duration of these stress symptoms. In the acute form, the duration of the symptoms is between 1 to 3 months. In the chronic form, symptoms last more than 3 months. With delayed onset, symptoms develop more than 6 months after the traumatic event (MeSH)." [] def: "A class of traumatic stress disorders with symptoms that last more than one month. There are various forms of post-traumatic stress disorder, depending on the time of onset and the duration of these stress symptoms. In the acute form, the duration of the symptoms is between 1 to 3 months. In the chronic form, symptoms last more than 3 months. With delayed onset, symptoms develop more than 6 months after the traumatic event." [] def: "An anxiety disease which results from a traumatic experience that results in psychological trauma." [] def: "An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term." [NCIT:P378] synonym: "ACUTE POST TRAUMATIC STRESS DIS" EXACT [] synonym: "Acute Post Traumatic Stress Disorder" EXACT [] synonym: "Acute Post-Traumatic Stress Disorder" EXACT [] synonym: "CHRONIC POST TRAUMATIC STRESS DIS" EXACT [] synonym: "Chronic Post Traumatic Stress Disorder" EXACT [] synonym: "Chronic Post-Traumatic Stress Disorder" EXACT [] synonym: "combat neurosis" NARROW [NCIT:C3389] synonym: "DELAYED ONSET POST TRAUMATIC STRESS DIS" EXACT [] synonym: "Delayed Onset Post Traumatic Stress Disorder" EXACT [] synonym: "Delayed Onset Post-Traumatic Stress Disorder" EXACT [] synonym: "disorder, post-traumatic stress" EXACT [] synonym: "Neuroses, Post Traumatic" EXACT [] synonym: "Neuroses, Post-Traumatic" EXACT [] synonym: "Neuroses, Posttraumatic" EXACT [] synonym: "POST TRAUMATIC STRESS DIS" EXACT [] synonym: "Post Traumatic Stress Disorders" EXACT [] synonym: "Post-Traumatic Neuroses" EXACT [] synonym: "Post-Traumatic Neurosis" EXACT [] synonym: "post-traumatic stress disease" EXACT [] synonym: "post-traumatic stress disorder" EXACT [DOID:2055] synonym: "post-traumatic stress disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "Post-Traumatic Stress Disorders" EXACT [] synonym: "Post-traumatic stress syndrome" EXACT [] synonym: "Posttraumatic Neuroses" EXACT [] synonym: "POSTTRAUMATIC STRESS DIS" EXACT [] synonym: "Posttraumatic stress disorder" EXACT [] synonym: "Posttraumatic stress disorder (disorder)" EXACT [] synonym: "Posttraumatic stress disorder, NOS" EXACT [] synonym: "POSTTRAUMATIC STRESS DISORDERS" EXACT [] synonym: "PTSD" EXACT ABBREVIATION [NCIT:C3389] synonym: "PTSD - Post-traumatic stress disorder" EXACT [] synonym: "STRESS DIS POST TRAUMATIC" EXACT [] synonym: "STRESS DIS POSTTRAUMATIC" EXACT [] synonym: "Stress Disorder, Post Traumatic" EXACT [] synonym: "Stress Disorder, Post-Traumatic" EXACT [] synonym: "Stress Disorder, Posttraumatic" EXACT [] synonym: "Stress Disorders, Post Traumatic" EXACT [] synonym: "Stress Disorders, Post-Traumatic" EXACT [] synonym: "Stress Disorders, Posttraumatic" EXACT [] synonym: "traumatic neurosis" EXACT [DOID:2055] xref: DOID:2055 {source="MONDO:equivalentTo", source="EFO:0001358"} xref: ICD9:309.81 {source="DOID:2055", source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0001358"} xref: MedDRA:10036316 xref: MESH:D013313 {source="DOID:2055", source="MONDO:equivalentTo", source="EFO:0001358"} xref: MeSH:D013313 xref: MONDO:0005146 xref: NCIT:C3389 {source="DOID:2055", source="MONDO:equivalentTo", source="EFO:0001358"} xref: NCIt:C3389 xref: NIFSTD:birnlex_12679 {source="EFO:0001358"} xref: SCTID:47505003 {source="DOID:2055", source="MONDO:equivalentTo", source="EFO:0001358"} xref: SNOMEDCT:313182004 xref: SNOMEDCT:47505003 is_a: EFO:0004257 {source="NCIT:C3389"} ! neurotic disorder is_a: EFO:0010098 ! stress-related disorder property_value: exactMatch DOID:2055 property_value: exactMatch http://identifiers.org/mesh/D013313 property_value: exactMatch http://identifiers.org/snomedct/47505003 property_value: exactMatch NCIT:C3389 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Gautier Koscielny" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001359 name: obsolete_type I diabetes mellitus def: "A subtype of DIABETES MELLITUS that is characterized by INSULIN deficiency. It is manifested by the sudden onset of severe HYPERGLYCEMIA, rapid progression to DIABETIC KETOACIDOSIS, and DEATH unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence." [] def: "An autoimmune disease of endocrine system and is_a diabetes mellitus that results from autoimmune destruction of insulin-producing beta cells of the pancreas." [] def: "Diabetes mellitus characterized by insulin deficiency, sudden onset, severe hyperglycemia, rapid progression to ketoacidosis, and death unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence." [] synonym: "Autoimmune Diabete" EXACT [] synonym: "Autoimmune Diabetes" EXACT [] synonym: "Brittle Diabetes Mellitus" EXACT [] synonym: "Diabete, Autoimmune" EXACT [] synonym: "DIABETES MELLITUS TYPE 01" EXACT [] synonym: "Diabetes mellitus type 1" EXACT [] synonym: "Diabetes mellitus type 1 (disorder)" EXACT [] synonym: "Diabetes mellitus type I" EXACT [] synonym: "Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with unspecified complication" EXACT [] synonym: "Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], uncontrolled, with unspecified complication" EXACT [] synonym: "Diabetes Mellitus, Brittle" EXACT [] synonym: "Diabetes Mellitus, Insulin Dependent" EXACT [] synonym: "Diabetes Mellitus, Insulin-Dependent" EXACT [] synonym: "Diabetes Mellitus, Juvenile Onset" EXACT [] synonym: "Diabetes Mellitus, Juvenile-Onset" EXACT [] synonym: "Diabetes Mellitus, Ketosis Prone" EXACT [] synonym: "Diabetes Mellitus, Ketosis-Prone" EXACT [] synonym: "Diabetes Mellitus, Sudden Onset" EXACT [] synonym: "Diabetes Mellitus, Sudden-Onset" EXACT [] synonym: "Diabetes Mellitus, Type 1" EXACT [] synonym: "Diabetes Mellitus, Type I" EXACT [] synonym: "Diabetes, Autoimmune" EXACT [] synonym: "DMI UNSPF NT ST UNCNTRLD" EXACT [] synonym: "DMI UNSPF UNCNTRLD" EXACT [] synonym: "IDDM" EXACT [] synonym: "IDDM - Insulin-dependent diabetes mellitus" EXACT [] synonym: "Insulin Dependent Diabetes" EXACT [] synonym: "Insulin dependent diabetes mellitus" EXACT [] synonym: "Insulin-Dependent Diabetes Mellitus" EXACT [] synonym: "Juvenile Diabetes" EXACT [] synonym: "Juvenile onset diabetes mellitus" EXACT [] synonym: "Juvenile-Onset Diabetes Mellitus" EXACT [] synonym: "Ketosis-Prone Diabetes Mellitus" EXACT [] synonym: "Mellitus, Sudden-Onset Diabetes" EXACT [] synonym: "Sudden-Onset Diabetes Mellitus" EXACT [] synonym: "T1D" EXACT [] synonym: "T1DM" EXACT [] synonym: "Type 1 Diabetes" EXACT [] synonym: "Type 1 Diabetes Mellitus" EXACT [] synonym: "Type I Diabetes" EXACT [] xref: DOID:9744 xref: ICD10:E10 xref: MedDRA:10045228 xref: MeSH:D003922 xref: NCIt:C2986 xref: OMIM:125852 xref: OMIM:222100 xref: OMIM:600320 xref: OMIM:601388 xref: OMIM:601942 xref: OMIM:610155 xref: OMIM:611895 xref: OMIM:612520 xref: OMIM:612522 xref: SNOMEDCT:11530004 xref: SNOMEDCT:46635009 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.38.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replaced with Mondo term\nsee https://github.com/ebispot/efo/issues/1381" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/MONDO_0005147 [Term] id: EFO:0001360 name: obsolete_type II diabetes mellitus def: "A subclass of DIABETES MELLITUS that is not INSULIN-responsive or dependent (NIDDM). It is characterized initially by INSULIN RESISTANCE and HYPERINSULINEMIA; and eventually by GLUCOSE INTOLERANCE; HYPERGLYCEMIA; and overt diabetes. Type II diabetes mellitus is no longer considered a disease exclusively found in adults. Patients seldom develop KETOSIS but often exhibit OBESITY." [] def: "A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity." [] synonym: "Adult-Onset Diabetes" EXACT [] synonym: "Adult-Onset Diabetes Mellitus" EXACT [] synonym: "DIABETES MELLITUS TYPE 02" EXACT [] synonym: "diabetes mellitus type 2" EXACT [] synonym: "Diabetes Mellitus, Adult Onset" EXACT [] synonym: "Diabetes Mellitus, Adult-Onset" EXACT [] synonym: "Diabetes Mellitus, Ketosis Resistant" EXACT [] synonym: "Diabetes Mellitus, Ketosis-Resistant" EXACT [] synonym: "Diabetes Mellitus, Maturity Onset" EXACT [] synonym: "Diabetes Mellitus, Maturity-Onset" EXACT [] synonym: "Diabetes Mellitus, Non Insulin Dependent" EXACT [] synonym: "Diabetes Mellitus, Non-Insulin-Dependent" EXACT [] synonym: "Diabetes Mellitus, Noninsulin Dependent" EXACT [] synonym: "Diabetes Mellitus, Slow Onset" EXACT [] synonym: "Diabetes Mellitus, Slow-Onset" EXACT [] synonym: "Diabetes Mellitus, Stable" EXACT [] synonym: "Diabetes Mellitus, Type 2" EXACT [] synonym: "Diabetes Mellitus, Type II" EXACT [] synonym: "Diabetes, Type 2" EXACT [] synonym: "Ketosis-Resistant Diabetes Mellitus" EXACT [] synonym: "Maturity Onset Diabetes Mellitus" EXACT [] synonym: "Maturity-Onset Diabetes Mellitus" EXACT [] synonym: "MODY" EXACT [] synonym: "NIDDM" EXACT [] synonym: "Non-Insulin Dependent Diabetes" EXACT [] synonym: "Non-Insulin Dependent Diabetes Mellitus" EXACT [] synonym: "non-insulin-dependent diabetes mellitus" EXACT [] synonym: "Slow-Onset Diabetes Mellitus" EXACT [] synonym: "Stable Diabetes Mellitus" EXACT [] synonym: "T2D" EXACT [] synonym: "T2DM" EXACT [] synonym: "T2DM - Type 2 Diabetes mellitus" EXACT [] synonym: "Type 2 Diabetes" EXACT [] synonym: "Type 2 Diabetes Mellitus" EXACT [] synonym: "Type 2 Diabetes Mellitus Non-Insulin Dependent" EXACT [] synonym: "Type II Diabetes" EXACT [] xref: DOID:9352 xref: ICD10:E11 xref: MedDRA:10045242 xref: MeSH:D003924 xref: NCIt:C26747 xref: OMIM:125853 xref: OMIM:601283 xref: OMIM:616087 xref: SNOMEDCT:44054006 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.38.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replaced with Mondo term\nsee https://github.com/ebispot/efo/issues/1381" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/MONDO_0005148 [Term] id: EFO:0001361 name: pulmonary arterial hypertension def: "A syndrome with pathological changes in the pulmonary arteries and impaired PULMONARY CIRCULATION that can be the result of PULMONARY HYPERTENSION. Ayerza syndrome is characterized by slowly developing ASTHMA; BRONCHITIS; DYSPNEA; and CYANOSIS in association with POLYCYTHEMIA." [] def: "Increased VASCULAR RESISTANCE in the PULMONARY CIRCULATION, usually secondary to HEART DISEASES or LUNG DISEASES." [] def: "Pulmonary arterial hypertension (PAH) is a group of diseases characterized by mean pulmonary artery pressure >20 mmHg and elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, have overt features of venous/capillary involvement (pulmonary veno-occlusive disease, PVOD/pulmonary capillary hemangiomatosis, PCH), induced by drug or toxin (drug-or toxin-induced PAH), or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease)." [Orphanet:182090, PMID:30545973] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:182090"} synonym: "Ayerza Arrilaga Syndrome" EXACT [] synonym: "Ayerza Syndrome" EXACT [] synonym: "Ayerza's Syndrome" EXACT [] synonym: "Ayerza-Arrilaga Syndrome" EXACT [] synonym: "Ayerzas Syndrome" EXACT [] synonym: "HYPERTENSION PULM" EXACT [] synonym: "Hypertension, Pulmonary" EXACT [] synonym: "idiopathic pulmonary hypertension" RELATED [GARD:0007501] synonym: "PAH" EXACT ABBREVIATION [Orphanet:182090] synonym: "PAH with overt features of venous/capillaries involvement" NARROW [PMID:30545973] synonym: "PHT - Pulmonary hypertension" EXACT [] synonym: "PPH" RELATED ABBREVIATION [GARD:0007501] synonym: "PPH1" EXACT [] synonym: "PULM HYPERTENSION" EXACT [] synonym: "pulmonary arterial hypertension" EXACT [] {comment="preferred label from MONDO"} synonym: "pulmonary hypertension" EXACT [] synonym: "pulmonary hypertension (disorder)" EXACT [] synonym: "Pulmonary hypertension, NOS" EXACT [] synonym: "pulmonary hypertension, primary, 1" EXACT [] synonym: "PVOD/PCH" NARROW ABBREVIATION [PMID:30545973] synonym: "Syndrome, Ayerza" EXACT [] synonym: "Syndrome, Ayerza-Arrilaga" EXACT [] xref: DOID:6432 xref: MedDRA:10064911 {source="Orphanet:182090/e", source="Orphanet:182090"} xref: MESH:D000081029 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: MeSH:D006976 xref: MONDO:0015924 xref: NCIt:C3120 xref: OMIM:615371 xref: Orphanet:182090 {source="MONDO:equivalentTo"} xref: SCTID:11399002 {source="MONDO:equivalentTo"} xref: SNOMEDCT:70995007 xref: UMLS:C2973725 {source="MONDO:equivalentTo", source="Orphanet:182090"} xref: UMLS:CN200519 {source="MONDO:equivalentTo"} is_a: EFO:0000684 ! respiratory system disease is_a: MONDO:0005149 {source="Orphanet:182090"} ! pulmonary hypertension relationship: EFO:0000784 UBERON:0002012 ! has_disease_location pulmonary artery relationship: has_characteristic MONDO:0021136 {source="MONDO:0019096"} ! rare property_value: closeMatch http://identifiers.org/meddra/10064911 property_value: exactMatch http://identifiers.org/mesh/D000081029 property_value: exactMatch http://identifiers.org/snomedct/11399002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2973725 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200519 property_value: exactMatch Orphanet:182090 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5537 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5781 xsd:anyURI [Term] id: EFO:0001362 name: obsolete_pulmonary arterial hypertension def: "Increased pressure within the pulmonary circulation due to lung or heart disorder." [] xref: NCIt:C3120 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.8" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate of pulmonary hypertension EFO_0001361" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0001361 [Term] id: EFO:0001363 name: obsolete_inner ear structure def: "The essential organ of hearing and equilibrium that is located in the temporal bone, is innervated by the auditory nerve, and includes the vestibule, the semicircular canals, and the cochlea." [] synonym: "auris interna" EXACT [] synonym: "inner ear" EXACT [] synonym: "internal ear" EXACT [] xref: BTO:0000630 xref: MIAA:0000145 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0001846 label : internal ear" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001846 [Term] id: EFO:0001364 name: obsolete_organ of corti def: "The organ, resting on the basilar membrane in the cochlear duct, that contains the special sensory receptors for hearing; it consists of neuroepithelial hair cells and several types of supporting cells, including the inner and outer pillar cells, inner and outer phalangeal cells, border cells, and Hensen's cells." [] synonym: "basilar papilla" EXACT [] synonym: "Corti's organ" EXACT [] synonym: "organum spirale" EXACT [] synonym: "spiral organ" EXACT [] synonym: "Spiral Organ of Corti" EXACT [] xref: BTO:0001691 xref: MeSH:D009925 xref: NCIt:C33223 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with UBERON_0002227" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002227 [Term] id: EFO:0001365 name: age-related macular degeneration def: "Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration." [NCIT:P378] def: "Degenerative changes in the macula lutea of the retina." [] def: "Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms." [] synonym: "AAMD - Age related macular degeneration" EXACT [] synonym: "AGE RELAT MACULOPATHIES" EXACT [] synonym: "AGE RELAT MACULOPATHY" EXACT [] synonym: "Age Related Macular Degeneration" EXACT [] synonym: "age related macular degeneration" RELATED [DOID:10871] synonym: "Age related macular degeneration (disorder) [Ambiguous]" EXACT [] synonym: "Age Related Maculopathies" EXACT [] synonym: "age related Maculopathies" EXACT [DOID:10871] synonym: "Age related maculopathy" EXACT [] synonym: "age related maculopathy" EXACT [DOID:10871] synonym: "age-related macular degeneration" EXACT [DOID:10871] synonym: "age-related macular degeneration" EXACT [] {comment="preferred label from MONDO"} synonym: "Age-related macular degeneration (disorder)" EXACT [] synonym: "Age-Related Macular Degenerations" EXACT [] synonym: "Age-Related Maculopathies" EXACT [] synonym: "Age-Related Maculopathy" EXACT [] synonym: "AMD" EXACT ABBREVIATION [NCIT:C84391] synonym: "AMD - Age-related macular degeneration" EXACT [] synonym: "Amended" EXACT [] synonym: "ARMD" EXACT ABBREVIATION [NCIT:C84391] synonym: "ARMD - Age-related macular degeneration" EXACT [] synonym: "Degeneration, Age-Related Macular" EXACT [] synonym: "Degeneration, Macular" EXACT [] synonym: "Degenerations, Age-Related Macular" EXACT [] synonym: "Degenerations, Macular" EXACT [] synonym: "Dystrophies, Macular" EXACT [] synonym: "Dystrophy, Macular" EXACT [] synonym: "Macular Degeneration" EXACT [] synonym: "Macular degeneration (disorder)" EXACT [] synonym: "Macular degeneration (senile) of retina, unspecified" EXACT [] synonym: "MACULAR DEGENERATION NOS" EXACT [] synonym: "Macular Degeneration, Age-Related" EXACT [] synonym: "macular degeneration, age-related" EXACT [OMIMPS:603075] synonym: "Macular Degenerations" EXACT [] synonym: "Macular Degenerations, Age-Related" EXACT [] synonym: "Macular Dystrophies" EXACT [] synonym: "Macular Dystrophy" EXACT [] synonym: "MACULOPATHIES AGE RELAT" EXACT [] synonym: "Maculopathies, Age Related" EXACT [] synonym: "Maculopathies, Age-Related" EXACT [] synonym: "MACULOPATHY AGE RELAT" EXACT [] synonym: "Maculopathy, Age Related" EXACT [] synonym: "Maculopathy, Age-Related" EXACT [] synonym: "Senile macular degeneration" EXACT [DOID:10871] synonym: "Senile macular degeneration of retina" EXACT [] synonym: "Senile macular retinal degeneration" EXACT [DOID:10871] synonym: "SMD - Senile macular degeneration" EXACT [] synonym: "Unspecified senile macular degeneration" EXACT [] xref: DOID:10871 {source="EFO:0001365", source="MONDO:equivalentTo"} xref: DOID:4448 xref: ICD9:362.50 {source="DOID:10871"} xref: MedDRA:10064930 xref: MeSH:D008268 xref: MONDO:0005150 xref: NCIt:C25416 xref: NCIT:C84391 {source="EFO:0001365", source="MONDO:equivalentTo", source="DOID:10871"} xref: NCIt:C84391 xref: NIFSTD:birnlex_12812 {source="EFO:0001365"} xref: OMIM:153800 xref: OMIM:603075 xref: OMIM:608895 xref: OMIM:610149 xref: OMIM:610698 xref: OMIM:611378 xref: OMIM:611488 xref: OMIM:611953 xref: OMIM:613757 xref: OMIM:613761 xref: OMIM:613778 xref: OMIM:613784 xref: OMIM:615439 xref: OMIM:615489 xref: OMIM:615591 xref: OMIM:616118 xref: OMIM:616170 xref: OMIMPS:603075 {source="MONDO:equivalentTo", source="DOID:10871"} xref: Orphanet:279 {source="MONDO:equivalentObsolete", source="https://github.com/monarch-initiative/monarch-disease-ontology/issues/413"} xref: SCTID:267718000 {source="EFO:0001365", source="MONDO:equivalentTo", source="DOID:10871"} xref: SNOMEDCT:267718000 xref: UMLS:C0242383 {source="NCIT:C84391", source="MONDO:equivalentTo", source="DOID:10871"} is_a: MONDO:0002175 {source="DOID:10871"} ! degeneration of macula and posterior pole is_a: MONDO:0019118 ! inherited retinal dystrophy relationship: EFO:0000784 UBERON:0000970 ! has_disease_location eye property_value: exactMatch DOID:10871 property_value: exactMatch http://identifiers.org/snomedct/267718000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242383 property_value: exactMatch https://omim.org/phenotypicSeries/PS603075 property_value: exactMatch NCIT:C84391 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001366 name: obsolete_dentate gyrus def: "A serrated strip of gray matter under the medial border of the hippocampus and in its depths; it is an archaeocortex which develops along the edge of the hippocampal fissure and which consists of molecular, granular, and polymorphic layers." [] def: "Part of the hippocampal formation forming a \"V\" or \"U\" shaped structure with the opening bounded by hippocampal area CA3. It consists of 3 layers from superficial to deep: molecular, granule cell and polymorphic or hilar layer." [] synonym: "fascia dentata" EXACT [] synonym: "gyrus dentatus" EXACT [] synonym: "hippocampal dentate gyrus" EXACT [] xref: BTO:0002496 xref: EMAPA:19148 xref: EV:0100180 xref: MA:0000191 xref: MAT:0000114 xref: MeSH:D018891 xref: NCIt:C32452 xref: NIFSTD:birnlex_1178 xref: SAEL:51 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with UBERON_0001885" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001885 [Term] id: EFO:0001367 name: obsolete_embryo stage def: "An embryo is a multicellular diploid eukaryote in its earliest stage of development, from the time of first cell division until birth, hatching, or germination." [] synonym: "embryo early (growth) stage" EXACT [] synonym: "Embryologic" EXACT [] xref: NCIt:C28147 xref: WBls:0000003 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0000922 label : embryo" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000922 [Term] id: EFO:0001368 name: obsolete_intercostal muscle def: "A muscle located between two ribs." [] synonym: "Respiratory Muscles" EXACT [] xref: FMA:13354 xref: NCIt:C32824 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001111\nlabel: intercostal muscle" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001111 [Term] id: EFO:0001369 name: vertebral column structure def: "The post-cranial structural components forming the long axis of the vertebrate body; in Danio, consisting of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins." [] def: "The post-cranial structural components forming the long axis of the vertebrate body; usually consists of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins." [] synonym: "axial skeleton" EXACT [] synonym: "Backbone" EXACT [] synonym: "postcranial axial skeleton" EXACT [] synonym: "Spinal column" EXACT [] synonym: "Spine" EXACT [] synonym: "vertebral column" EXACT [] xref: AAO:0000034 xref: EHDAA:5049 xref: EMAPA:17214 xref: FMA:13478 xref: MA:0000308 xref: MeSH:D013131 xref: NCIt:C12998 xref: NCIt:C32172 xref: NIFSTD:sao1145756102 xref: SAEL:121 xref: TAO:0000317 xref: ZFA:0000317 is_a: EFO:0003858 ! skeleton structure relationship: part_of UBERON:0002090 ! postcranial axial skeleton property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001370 name: obsolete_intervertebral disc synonym: "Intervertebral disk" EXACT [] xref: FMA:10446 xref: MA:0000110 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001066\nlabel: intervertebral disk" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001066 [Term] id: EFO:0001371 name: obsolete_vertebra def: "Irregular bone that articulates with other vertebrae, or with one other vertebra and the skull or the sacrum" [] xref: FMA:9914 xref: MA:0000309 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002412\nlabel: vertebra" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002412 [Term] id: EFO:0001372 name: neonate def: "An infant during the first month after birth." [] synonym: "Neonatal" EXACT [] synonym: "Newborn" EXACT [] synonym: "NEWBORN (0-27 DAYS)" EXACT [] xref: NCIt:C16731 xref: NIFSTD:birnlex_429 xref: NIFSTD:birnlex_699 xref: SNOMEDCT:133933007 xref: SNOMEDCT:255407002 xref: SNOMEDCT:46068001 is_a: EFO:0001355 ! infant property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001373 name: obsolete_precentral gyrus synonym: "Precentral convolution" EXACT [] synonym: "Prerolandic gyrus" EXACT [] xref: FMA:61894 xref: NCIt:C33393 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002703\nlabel: precentral gyrus" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002703 [Term] id: EFO:0001376 name: synovial sarcoma def: "Synovial sarcoma is an aggressive soft tissue sarcoma, occurring most commonly in adolescents and young adults (15 to 40 years), usually localized near the large joints of the extremities but also in the head and neck, mediastinum and viscera (lung, kidney etc), clinically presenting as a deep seated swelling or a painful mass often with an initial indolent course and is characterized by its local invasiveness and a propensity to metastasize. The origin of synovial sarcoma is likely from multipotent mesenchymal cells and not synovium (contrary to its name)." [Orphanet:3273] comment: Synovial sarcomas are not necessarily of synovial origin. subset: ordo_disease {source="Orphanet:3273"} synonym: "sarcoma, synovial" RELATED [OMIM:300813] synonym: "sarcoma, synovial, malignant" EXACT [NCIT:C3400] synonym: "SS" BROAD ABBREVIATION [NCIT:C3400] synonym: "synovial sarcoma" EXACT [MONDO:ambiguous, NCIT:C3400] synonym: "synovial sarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "synovial sarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "synovial sarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Synovialosarcoma" EXACT [Orphanet:3273] xref: DOID:5485 {source="EFO:0001376", source="MONDO:equivalentTo"} xref: EFO:0001376 {source="MONDO:equivalentTo"} xref: GARD:0007721 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: HP:0012570 {source="MONDO:otherHierarchy"} xref: ICD10:C49.9 {source="Orphanet:3273", source="ORDO:3273/ntbt"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9040/3 {source="NCIT:C3400"} xref: MedDRA:10042863 {source="Orphanet:3273", source="ORDO:3273/e"} xref: MedDRA:10042863 {source="Orphanet:3273/e", source="Orphanet:3273"} xref: MESH:D013584 {source="EFO:0001376", source="MONDO:equivalentTo", source="DOID:5485"} xref: MONDO:0010434 xref: NCIT:C3400 {source="EFO:0001376", source="MONDO:equivalentTo", source="DOID:5485"} xref: OMIM:300813 {source="EFO:0001376", source="MONDO:equivalentTo", source="Orphanet:3273", source="ORDO:3273/e", source="DOID:5485"} xref: OMIM:300813 {source="Orphanet:3273/e", source="EFO:0001376", source="MONDO:equivalentTo", source="Orphanet:3273", source="DOID:5485"} xref: ONCOTREE:SYNS {source="MONDO:equivalentTo"} xref: Orphanet:3273 {source="MONDO:equivalentTo", source="OMIM:300813"} xref: SCTID:302851001 {source="EFO:0001376", source="MONDO:equivalentTo", source="DOID:5485"} xref: UMLS:C0039101 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C3400", source="Orphanet:3273", source="ORDO:3273/e", source="DOID:5485", source="OMIM:300813"} xref: UMLS:C0039101 {source="Orphanet:3273/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C3400", source="Orphanet:3273", source="DOID:5485", source="OMIM:300813"} is_a: EFO:1001968 {source="NCIT:C3400", source="Orphanet:3273"} ! soft tissue sarcoma property_value: closeMatch http://identifiers.org/meddra/10042863 property_value: closeMatch http://identifiers.org/snomedct/63211008 property_value: exactMatch DOID:5485 property_value: exactMatch DOID:5485 property_value: exactMatch http://identifiers.org/meddra/10042863 property_value: exactMatch http://identifiers.org/mesh/D013584 property_value: exactMatch http://identifiers.org/mesh/D013584 property_value: exactMatch http://identifiers.org/omim/300813 property_value: exactMatch http://identifiers.org/snomedct/302851001 property_value: exactMatch http://identifiers.org/snomedct/302851001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039101 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039101 property_value: exactMatch https://omim.org/entry/300813 property_value: exactMatch NCIT:C3400 property_value: exactMatch NCIT:C3400 property_value: exactMatch Orphanet:3273 property_value: excluded_subClassOf MONDO:0002403 {source="DOID:5485"} property_value: IAO:0000589 "synovial sarcoma (disease)" xsd:string [Term] id: EFO:0001378 name: multiple myeloma def: "A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)" [NCIT:C3242] subset: ordo_disease {source="Orphanet:29073"} synonym: "Al amyloidosis" RELATED [OMIM:254500] synonym: "amyloidosis, systemic" RELATED [OMIM:254500] synonym: "Kahler disease" EXACT [NCIT:C3242] synonym: "Kahler's disease" EXACT [Orphanet:29073] synonym: "medullary plasmacytoma" EXACT [Orphanet:29073] synonym: "multiple myeloma" EXACT [NCIT:C3242] synonym: "multiple myeloma, resistance to, Somatic mutation" EXACT [OMIM:254500, OMIM:genemap2] synonym: "multiple myeloma, susceptibility to, Somatic mutation" EXACT [OMIM:254500, OMIM:genemap2] synonym: "multiple myeloma/plasma cell myeloma" EXACT [NCIT:C3242] synonym: "myeloid neoplasm of plasma cell" EXACT [MONDO:design_pattern] synonym: "myeloma" EXACT [NCIT:C3242] synonym: "myeloma - multiple" RELATED [GARD:0007108] synonym: "myeloma, multiple" EXACT [OMIM:254500] synonym: "myeloma, multiple" RELATED [OMIM:254500] synonym: "myeloma, plasma cell, malignant" EXACT [NCIT:C3242] synonym: "myelomatosis" EXACT [NCIT:C3242, Orphanet:29073] synonym: "plasma cell myeloid neoplasm" EXACT [MONDO:patterns/location] synonym: "plasma cell myeloma" EXACT [DOID:9538, NCIT:C3242, Orphanet:29073] synonym: "plasma cell myeloma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "plasma cell myeloma" EXACT [] {comment="preferred label from MONDO"} xref: COHD:437233 {source="MONDO:equivalentTo"} xref: DOID:9538 {source="MONDO:equivalentTo", source="EFO:0001378"} xref: EFO:0001378 {source="DOID:9538", source="MONDO:equivalentTo"} xref: GARD:0007108 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: ICD10:C90.0 {source="Orphanet:29073", source="DOID:9538", source="MONDO:equivalentTo", source="ORDO:29073/e"} xref: ICD10:C90.00 {source="DOID:9538"} xref: ICD10CM:C90.0 {source="Orphanet:29073", source="DOID:9538", source="MONDO:equivalentTo", source="Orphanet:29073/e"} xref: ICD9:203.0 {source="DOID:9538", source="EFO:0001378"} xref: ICDO:9732/3 {source="NCIT:C3242"} xref: MedDRA:10028228 {source="Orphanet:29073", source="Orphanet:29073/e"} xref: MedDRA:10028228 {source="Orphanet:29073", source="ORDO:29073/e"} xref: MESH:D009101 {source="Orphanet:29073", source="DOID:9538", source="MONDO:equivalentTo", source="Orphanet:29073/e", source="EFO:0001378"} xref: MESH:D009101 {source="Orphanet:29073", source="DOID:9538", source="MONDO:equivalentTo", source="EFO:0001378", source="ORDO:29073/e"} xref: MONDO:0009693 xref: NCIT:C3242 {source="DOID:9538", source="MONDO:equivalentTo", source="EFO:0001378"} xref: OMIM:254500 {source="Orphanet:29073", source="DOID:9538", source="MONDO:equivalentTo", source="ORDO:29073/e"} xref: OMIM:254500 {source="Orphanet:29073", source="DOID:9538", source="MONDO:equivalentTo", source="Orphanet:29073/e"} xref: ONCOTREE:PCM {source="MONDO:equivalentTo"} xref: Orphanet:29073 {source="MONDO:equivalentTo", source="OMIM:254500"} xref: Orphanet:314701 {source="MONDO:relatedTo", source="OMIM:254500"} xref: Orphanet:85443 {source="MONDO:relatedTo", source="OMIM:254500"} xref: UMLS:C0026764 {source="Orphanet:29073", source="NCIT:C3242", source="DOID:9538", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:254500", source="ORDO:29073/e"} xref: UMLS:C0026764 {source="Orphanet:29073", source="NCIT:C3242", source="DOID:9538", source="MONDO:equivalentTo", source="Orphanet:29073/e", source="MONDO:ncbi_mim2gene_medline", source="OMIM:254500"} xref: UMLS:C0268381 {source="MONDO:relatedTo", source="OMIM:254500"} is_a: EFO:0000200 {source="EFO:0001378", source="MESH:D009101", source="NCIT:C3242", source="Orphanet:29073"} ! plasma cell neoplasm is_a: EFO:0002427 {source="DOID:9538", source="MONDO:Entailed", source="MONDO:Redundant"} ! myeloid neoplasm is_a: MONDO:0000621 ! immune system cancer property_value: closeMatch http://identifiers.org/meddra/10028228 property_value: closeMatch http://identifiers.org/snomedct/109989006 property_value: closeMatch http://identifiers.org/snomedct/154585004 property_value: closeMatch http://identifiers.org/snomedct/55921005 property_value: closeMatch http://identifiers.org/snomedct/94705007 property_value: exactMatch DOID:9538 property_value: exactMatch DOID:9538 property_value: exactMatch http://identifiers.org/meddra/10028228 property_value: exactMatch http://identifiers.org/mesh/D009101 property_value: exactMatch http://identifiers.org/mesh/D009101 property_value: exactMatch http://identifiers.org/omim/254500 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026764 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026764 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/C90.0 property_value: exactMatch https://omim.org/entry/254500 property_value: exactMatch NCIT:C3242 property_value: exactMatch NCIT:C3242 property_value: exactMatch Orphanet:29073 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1506 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: EFO:0001379 name: endocrine system disease def: "A disease involving the endocrine system." [https://orcid.org/0000-0002-6601-2165] def: "Any deviation from the normal structure or function of the endocrine system that is manifested by a characteristic set of symptoms and signs." [] def: "Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." [] subset: harrisons_view subset: rare_grouping synonym: "DIS ENDOCRINE SYSTEM" EXACT [] synonym: "Disease of endocrine gland" EXACT [] synonym: "disease of endocrine system" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of endocrine system" EXACT [] synonym: "Disease, Endocrine" EXACT [] synonym: "Disease, Endocrine System" EXACT [] synonym: "Diseases of Endocrine System" EXACT [] synonym: "Diseases, Endocrine" EXACT [] synonym: "Diseases, Endocrine System" EXACT [] synonym: "Disorder of endocrine gland" EXACT [] synonym: "Disorder of endocrine system" EXACT [] synonym: "disorder of endocrine system" EXACT [MONDO:patterns/location_top, NCIT:C3009] synonym: "Disorder of endocrine system (disorder)" EXACT [] synonym: "ENDOCRINE DIS" EXACT [] synonym: "Endocrine disease" EXACT [] synonym: "endocrine disease" EXACT [DOID:28, NCIT:C3009] synonym: "Endocrine Diseases" EXACT [] synonym: "Endocrine Diseases and Manifestations" EXACT [] synonym: "Endocrine disorder" EXACT [] synonym: "endocrine disorder" EXACT [NCIT:C3009] synonym: "ENDOCRINE DISORDER NOS" EXACT [] synonym: "Endocrine disorder NOS (disorder)" EXACT [] synonym: "ENDOCRINE DISORDERS" EXACT [] synonym: "Endocrine disturbance" EXACT [] synonym: "Endocrine disturbance NOS" EXACT [] synonym: "Endocrine disturbance NOS (disorder)" EXACT [] synonym: "Endocrine gland disease NOS" EXACT [] synonym: "Endocrine gland disease NOS (disorder)" EXACT [] synonym: "ENDOCRINE SYSTEM DIS" EXACT [] synonym: "endocrine system disease" EXACT [MONDO:patterns/location] synonym: "endocrine system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "Endocrine System Diseases" EXACT [] synonym: "Endocrine System Disorder" EXACT [] synonym: "endocrine system disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "endocrine system disorder" EXACT [NCIT:C3009] synonym: "Endocrinopathy" EXACT [] synonym: "endocrinopathy" EXACT [NCIT:C3009] synonym: "Endocrinopathy, NOS" EXACT [] synonym: "Hormone abnormality" EXACT [] synonym: "Hormone abnormality (finding)" EXACT [] synonym: "Hormone disorders" EXACT [] synonym: "Hormone disturbance" EXACT [] synonym: "Hormone disturbance NOS" EXACT [] synonym: "System Disease, Endocrine" EXACT [] synonym: "System Diseases, Endocrine" EXACT [] synonym: "thyroid or other glandular disorders" EXACT [NCIT:C3009] synonym: "Unspecified endocrine disorder" EXACT [] xref: DOID:28 {source="EFO:0001379", source="MONDO:equivalentTo"} xref: ICD10:E34 xref: ICD9:259.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:259.9 {source="EFO:0001379", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:28"} xref: MESH:D004700 {source="EFO:0001379", source="MONDO:equivalentTo", source="DOID:28"} xref: MeSH:D004700 xref: MONDO:0005151 xref: NCIt:C27565 xref: NCIT:C3009 {source="EFO:0001379", source="MONDO:equivalentTo", source="DOID:28"} xref: NCIt:C3009 xref: SCTID:362969004 {source="EFO:0001379", source="MONDO:equivalentTo", source="DOID:28"} xref: SNOMEDCT:362969004 xref: SNOMEDCT:84452004 xref: UMLS:C0014130 {source="MONDO:equivalentTo", source="DOID:28", source="NCIT:C3009"} is_a: EFO:0000408 ! disease property_value: exactMatch DOID:28 property_value: exactMatch http://identifiers.org/mesh/D004700 property_value: exactMatch http://identifiers.org/snomedct/362969004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014130 property_value: exactMatch NCIT:C3009 property_value: excluded_subClassOf MONDO:0021199 {source="DOID:28", source="MONDO:Entailed", source="MONDO:metaclass"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001380 name: hypopituitarism def: "A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions." [NCIT:C62591] def: "Diminution or cessation of secretion of one or more hormones from the anterior pituitary gland (including LH; FOLLICLE STIMULATING HORMONE; SOMATOTROPIN; and CORTICOTROPIN). This may result from surgical or radiation ablation, non-secretory PITUITARY NEOPLASMS, metastatic tumors, infarction, PITUITARY APOPLEXY, infiltrative or granulomatous processes, and other conditions." [] subset: gard_rare {source="GARD:0002917"} synonym: "ADENOHYPOPHYSEAL HYPOSECRET" EXACT [] synonym: "Adenohypophyseal Hyposecretion" EXACT [] synonym: "ANTERIOR PITUITARY HYPOSECRET SYNDROME" EXACT [] synonym: "Anterior Pituitary Hyposecretion Syndrome" EXACT [] synonym: "Deficient secretion of one OR more pituitary hormones" EXACT [] synonym: "Disease, Simmonds" EXACT [] synonym: "hypopituitarism" EXACT [] {comment="preferred label from MONDO"} synonym: "Hypopituitarism (disorder)" EXACT [] synonym: "Hypopituitarism NOS" EXACT [] synonym: "Hypopituitarism NOS (disorder)" EXACT [] synonym: "Hypopituitarism, NOS" EXACT [] synonym: "Hypopituitarism, Postpartum" EXACT [] synonym: "Hypopituitarism: [NOS] or [Sheehan's syndrome] or [Simmond's disease] or [Panhypopituitarism]" EXACT [] synonym: "HYPOSECRET ADENOHYPOPHYSEAL" EXACT [] synonym: "HYPOSECRET SYNDROME ANTERIOR PITUITARY" EXACT [] synonym: "Hyposecretion Syndrome, Anterior Pituitary" EXACT [] synonym: "Hyposecretion, Adenohypophyseal" EXACT [] synonym: "Insufficiency, Pituitary" EXACT [] synonym: "Pituitary failure" EXACT [] synonym: "pituitary hormone deficiency" EXACT [DOID:9406] synonym: "Pituitary hypofunction" EXACT [] synonym: "pituitary hypofunction" RELATED [DOID:9406] synonym: "Pituitary insufficiency" EXACT [] synonym: "pituitary insufficiency" EXACT [DOID:9406] synonym: "Pituitary insufficiency, NOS" EXACT [] synonym: "Pituitary Insufficiency, Postpartum" EXACT [] synonym: "Postpartum Hypopituitarism" EXACT [] synonym: "Postpartum Pituitary Insufficiency" EXACT [] synonym: "Simmond's Disease" EXACT [] synonym: "SIMMONDS DIS" EXACT [] synonym: "Simmonds Disease" EXACT [] synonym: "Simmonds' Disease" EXACT [] xref: DOID:9406 {source="MONDO:equivalentTo", source="EFO:0001380"} xref: ICD10:E23 xref: ICD10CM:E23.0 {source="DOID:9406", source="MONDO:equivalentTo"} xref: MedDRA:10021067 xref: MESH:D007018 {source="DOID:9406", source="MONDO:equivalentTo", source="EFO:0001380"} xref: MeSH:D007018 xref: MONDO:0005152 xref: NCIT:C62591 {source="DOID:9406", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:0001380"} xref: NCIt:C62591 xref: OMIM:262600 xref: Orphanet:95494 {source="MONDO:relatedTo", source="DOID:9406"} xref: SCTID:74728003 {source="DOID:9406", source="MONDO:equivalentTo", source="EFO:0001380"} xref: SNOMEDCT:74728003 xref: UMLS:C0020635 {source="DOID:9406", source="MONDO:equivalentTo", source="NCIT:C62591"} is_a: EFO:0009607 {source="DOID:9406", source="MESH:D007018"} ! pituitary gland disease property_value: exactMatch DOID:9406 property_value: exactMatch http://identifiers.org/mesh/D007018 property_value: exactMatch http://identifiers.org/snomedct/74728003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020635 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E23.0 property_value: exactMatch NCIT:C62591 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2917/hypopituitarism xsd:anyURI {source="GARD:0002917"} [Term] id: EFO:0001381 name: obsolete_Peyer's patch def: "Any of numerous large oval patches of closely aggregated nodules of lymphoid tissue in the walls of the small intestine esp. in the ileum that partially or entirely disappear in advanced life and in typhoid fever become the seat of ulcers which may perforate the intestines." [] def: "Any of numerous large oval patches of closely aggregated nodules of lymphoid tissue in the walls of the small intestine especially in the ileum that partially or entirely disappear in advanced life and in typhoid fever become the seat of ulcers which may perforate the intestines." [] synonym: "Peyer's gland" EXACT [] synonym: "Peyers Patch (MMHCC)" EXACT [] xref: BTO:0001784 xref: NCIt:C22562 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use: http://purl.obolibrary.org/obo/UBERON_0001211\nlabel : Peyer's patch" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001211 [Term] id: EFO:0001382 name: puberty def: "The process of sexual maturation mediated by the neuroendocrine system in mammals." [] xref: ICD9:V21.1 xref: MedDRA:10037280 xref: MeSH:D011627 xref: NCIt:C82393 is_a: GO:0008150 ! biological_process property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0001383 name: obsolete_postcentral gyrus synonym: "Postcentral convolution" EXACT [] synonym: "Posterior central gyrus" EXACT [] synonym: "Postrolandic gyrus" EXACT [] xref: FMA:61896 xref: NCIt:C33346 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002581\nlabel: postcentral gyrus" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002581 [Term] id: EFO:0001384 name: obsolete_prefrontal cortex def: "The prefrontal cortex is the anterior part of the frontal lobes of the brain, lying in front of the motor and premotor areas." [] synonym: "prefrontal association complex" EXACT [] synonym: "Prefrontal association cortex" EXACT [] xref: BTO:0002807 xref: FMA:224850 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000451\nlabel: prefrontal cortex" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000451 [Term] id: EFO:0001385 name: obsolete_tibialis anterior muscle synonym: "Tibialis anterior" EXACT [] xref: FMA:22532 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001385\nlabel: tibialis anterior" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001385 [Term] id: EFO:0001386 name: obsolete_uvula def: "The fleshy lobe that hangs at the back of the soft palate." [] synonym: "Palatine Uvula" EXACT [] synonym: "Uvula of palate" EXACT [] xref: FMA:55022 xref: NCIt:C12232 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001734\nlabel: uvula" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001734 [Term] id: EFO:0001387 name: obsolete_submandibular gland def: "One of the three chief, paired salivary glands, predominantly serous, lying partly above and partly below the posterior half of the base of the mandible." [] def: "One of two salivary glands in the neck, located in the space bound by the two bellies of the digastric muscle and the angle of the mandible. It discharges through the submandibular duct. (MeSH)" [] synonym: "submandibular salivary gland" EXACT [] synonym: "submaxillary gland" EXACT [] xref: BTO:0001316 xref: NCIt:C12233 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001736\nlabel: submandibular gland" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001736 [Term] id: EFO:0001388 name: obsolete_laryngopharynx def: "The lower part of the pharynx that connects to the esophagus." [] def: "The portion of the pharynx that lies below the upper edge of the epiglottis and opens into the larynx and esophagus." [] synonym: "hypopharynx" EXACT [] synonym: "pars laryngea pharyngis" EXACT [] xref: BTO:0001740 xref: NCIt:C12246 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001051\nlabel: hypopharynx" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001051 [Term] id: EFO:0001389 name: obsolete_lacrimal gland def: "An acinous gland that is about the size and shape of an almond, secretes tears, and is situated laterally and superiorly to the bulb of the eye in a shallow depression on the inner surface of the frontal bone." [] def: "Paired, almond-shaped exocrine glands situated superior and posterior to each orbit of the eye that produce and secrete the watery serous component of tears." [] synonym: "tear gland" EXACT [] xref: BTO:0000044 xref: NCIt:C12346 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001817\nlabel: lacrimal gland" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001817 [Term] id: EFO:0001390 name: obsolete_corpus callosum def: "A white matter structure within the cleft that separates the left and right cerebral hemispheres in the mammalian brain. It is composed of a wide, flat bundle of 200-250 million axonal projections." [] def: "The great band of commissural fibers uniting the cerebral hemispheres of higher mammals including humans." [] xref: BTO:0000615 xref: NCIt:C12446 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002336\nlabel: corpus callosum" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002336 [Term] id: EFO:0001391 name: obsolete_somatosensory cortex xref: NCI Metathesaurus: C0037658 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0008930\nlabel: somatosensory cortex" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0008930 [Term] id: EFO:0001392 name: obsolete_subthalamic nucleus def: "A biconvex mass of gray matter on the medial side of the junction of the internal capsule and the crus cerebri; its chief connections are with the globus pallidus." [] def: "Lens-shaped structure on the inner aspect of the internal capsule. The subthalamic nucleus and pathways traversing this region are concerned with the integration of somatic motor function. (MeSH)" [] synonym: "Luys' body" EXACT [] synonym: "nucleus of Luys" EXACT [] synonym: "nucleus subthalamicus" EXACT [] xref: BTO:0002252 xref: NCIt:C12454 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001906\nlabel: subthalamic nucleus" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001906 [Term] id: EFO:0001393 name: obsolete_synovial membrane property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FMA_66762 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FMA_66762 [Term] id: EFO:0001394 name: obsolete_pons def: "A broad mass of chiefly transverse nerve fibers conspicuous on the ventral surface of the brain of man and lower mammals at the anterior end of the medulla oblongata." [] def: "The middle portion of the brainstem located between the midbrain and the medulla oblongata. The fourth ventricle lies dorsal to the pons which also contains the motor trigeminal nuclei and the abducens nuclei. The cerebellum contributes a large number of afferent fibers to the pons." [] synonym: "Pons Cerebelli" EXACT [] synonym: "Pons Varolii" EXACT [] xref: BTO:0001101 xref: NCIt: C12511 xref: NIFSTD:birnlex_733 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000988\nlabel: pons" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000988 [Term] id: EFO:0001395 name: obsolete_axilla def: "The underside concavity where the arm and the shoulder are joined." [] synonym: "Armpit" EXACT [] synonym: "Underarm" EXACT [] xref: NCIt:C12674 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0009472\nlabel: axilla" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0009472 [Term] id: EFO:0001396 name: obsolete_femur def: "The bone that extends from the pelvis to the knee, being the longest and largest bone in the body; its head articulates with the acetabulum of the hip bone, and distally, the femur, along with the patella and tibia, forms the knee joint." [] def: "The upper leg bone positioned between the pelvis and the knee." [] synonym: "Femoral" EXACT [] synonym: "femoral bone" EXACT [] synonym: "os femorale" EXACT [] synonym: "os femoris" EXACT [] synonym: "thigh bone" EXACT [] xref: BTO:0001284 xref: NCIt:C12717 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000981\nlabel: femur" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000981 [Term] id: EFO:0001397 name: obsolete_inguinal region property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0008337 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0008337 [Term] id: EFO:0001398 name: obsolete_humerus def: "The upper arm bone between the shoulder and elbow." [] xref: NCIt:C12731 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000976\nlabel: humerus" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000976 [Term] id: EFO:0001399 name: obsolete_pulmonary artery def: "An artery arising from the right ventricle of the heart that carries deoxygenated blood to the lungs." [] def: "An artery that conveys venous blood from the heart to the lungs." [] synonym: "Pulmonary Trunk" EXACT [] xref: BTO:0000778 xref: NCIt:C12774 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use: http://purl.obolibrary.org/obo/UBERON_0002012\nlabel: pulmonary artery" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002012 [Term] id: EFO:0001400 name: obsolete_scapula def: "Either of a pair of large triangular bones lying one in each dorsal lateral scapula: part of the thorax, being the principal bone of the corresponding half of the shoulder girdle, and articulating with the corresponding clavicle or coracoid." [] def: "The flat triangle-shaped bone that connects the humerus with the clavicle in the back of the shoulder." [] synonym: "scapula bone" EXACT [] synonym: "Shoulder Blade" EXACT [] xref: BTO:0001218 xref: NCIt:C12783 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001124\nlabel: pectoral limb scapula" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001124 [Term] id: EFO:0001401 name: obsolete_tonsil def: "Either of a pair of prominent masses of lymphoid tissue that lie one on each side of the throat between the anterior and posterior pillars of the fauces." [] def: "The human palatine tonsils and the nasopharyngeal tonsil are lymphoepithelial tissues located in strategic areas of the oropharynx and nasopharynx, although most commonly, the term tonsils refers to the palatine tonsils that can be seen in the back of the throat." [] def: "The two organs situated in the throat on either side of the narrow passage from the mouth to the pharynx. They are composed of lymphoid tissues." [] synonym: "Adenoids" EXACT [] synonym: "Mandel" EXACT [] synonym: "Tonsils" EXACT [] xref: BTO:0001387 xref: NCIt:C12802 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002372\nlabel: tonsil" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002372 [Term] id: EFO:0001402 name: obsolete_trigeminal nerve def: "Either of the fifth pair of cranial nerves, having sensory and motor functions in the face, teeth, mouth, and nasal cavity." [] def: "The fifth set of paired nerves of the face that emerge from the brain steam. These nerves have sensory and motor functions in the face, oral cavity, and nasal cavity." [] synonym: "Cranial Nerve V" EXACT [] synonym: "Fifth Cranial Nerve" EXACT [] synonym: "Nervus Trigeminus" EXACT [] synonym: "trigeminus" EXACT [] xref: BTO:0001072 xref: NCIt:C12806 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001645\nlabel: trigeminal nerve" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001645 [Term] id: EFO:0001403 name: obsolete_corneal limbus synonym: "Corneoscleral junction" EXACT [] synonym: "Corneoscleral Limbus" EXACT [] synonym: "Limbus of cornea" EXACT [] synonym: "Sclerocorneal junction" EXACT [] xref: FMA:58342 xref: NCIt:C12823 xref: SNOMEDCT:63716004 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with UBERON_0006761" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0006761 [Term] id: EFO:0001404 name: seminiferous tubules def: "One of two or three twisted, curved tubules in each lobule of the testis in which spermatozoa develop." [] synonym: "Seminiferous Tubule" EXACT [] xref: BTO:0001235 xref: MeSH:D012671 xref: NCIt:C13047 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000473 ! testis property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001405 name: obsolete_back def: "The back; especially : the entire dorsal surface of an animal." [] def: "The dorsal area between the base of the neck and the sacrum." [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001137\nlabel: dorsum" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001137 [Term] id: EFO:0001406 name: obsolete_extraembryonic tissue def: "Anatomical structure that is contiguous with the embryo and is comprised of portions of tissue or cells that will not contribute to the embryo." [] synonym: "extraembryonic component" EXACT [] synonym: "extraembryonic structure" EXACT [] synonym: "extraembryonic structures" EXACT [] xref: EMAPA:16042 xref: FBbt:00005835 xref: MAT:0000061 xref: SAEL:39 xref: ZFA:0000020 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0005292\nlabel: extraembryonic tissue" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005292 [Term] id: EFO:0001407 name: obsolete_placenta def: "The vascular organ in mammals except monotremes and marsupials that unites the fetus to the maternal uterus and mediates its metabolic exchanges through a more or less intimate association of uterine mucosal with chorionic and usually allantoic tissues; also: an analogous organ in another animal." [] xref: BTO:0001078 xref: EV:0100119 xref: EV:3000466 xref: EVM:2000256 xref: FMA:63934 xref: MA:0000386 xref: MAT:0000279 xref: SAEL:84 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001987\nlabel: placenta" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001987 [Term] id: EFO:0001408 name: cervical neck region xref: NCIt:C25767 is_a: EFO:0001369 ! vertebral column structure relationship: part_of EFO:0001369 ! vertebral column structure property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001409 name: obsolete_ankle def: "A gliding joint between the distal ends of the tibia and fibula and the proximal end of the talus." [] def: "The highest of the tarsal bones and the one that articulates with the tibia and fibula to form the ankle joint." [] synonym: "ankle bone" EXACT [] synonym: "Ankle Joint" EXACT [] synonym: "astragaloid bone" EXACT [] synonym: "astragalus" EXACT [] synonym: "os tarsi tibiale" EXACT [] synonym: "talus" EXACT [] xref: BTO:0002354 xref: NCIt:C32078 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001488\nlabel: ankle joint" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001488 [Term] id: EFO:0001410 name: obsolete_arm property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0001460 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001460 [Term] id: EFO:0001411 name: obsolete_leg property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0000978 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000978 [Term] id: EFO:0001412 name: obsolete_deltoid xref: NCIt:C32446 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001476\nlabel: deltoid" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001476 [Term] id: EFO:0001413 name: obsolete_gastrocnemius def: "A large muscle in the back of the lower leg. Its action involves the plantar flexion of the foot." [] def: "The largest and most superficial muscle of the calf of the leg arising by two heads from the condyles of the femur and attaching to a tendon that becomes part of the Achilles tendon." [] synonym: "gastrocnemius muscle" EXACT [] xref: BTO:0000506 xref: NCIt:C32666 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001388\nlabel: gastrocnemius" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001388 [Term] id: EFO:0001414 name: embryonic gonadal ridge synonym: "Gonadal Ridge" EXACT [] xref: NCIt:C34184 is_a: UBERON:0002050 ! embryonic structure property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001415 name: obsolete_umbilical cord def: "A cord arising from the navel that connects the fetus with the placenta." [] def: "A cord arising from the navel that connects the fetus with the placenta; also: yolk stalk" [] synonym: "connecting stalk" EXACT [] synonym: "yolk stalk" EXACT [] xref: BTO:0001415 xref: EHDAA:158 xref: EV:0100127 xref: EV:3000467 xref: EVM:2000364 xref: FMA:85541 xref: MAT:0000280 xref: SAEL:113 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002331\nlabel: umbilical cord" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002331 [Term] id: EFO:0001416 name: cervical adenocarcinoma def: "An adenocarcinoma arising from the cervical epithelium. It accounts for approximately 15% of invasive cervical carcinomas. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors. Grossly, advanced cervical adenocarcinoma may present as an exophytic mass, an ulcerated lesion, or diffuse cervical enlargement. Microscopically, the majority of cervical adenocarcinomas are of the endocervical (mucinous) type." [NCIT:C4029] subset: ordo_disease {source="Orphanet:213772"} synonym: "adenocarcinoma - cervix" EXACT [NCIT:C4029] synonym: "adenocarcinoma cervix uteri" EXACT [DOID:3702] synonym: "adenocarcinoma of cervix" EXACT [NCIT:C4029] synonym: "adenocarcinoma of cervix uteri" EXACT [NCIT:C4029] synonym: "adenocarcinoma of the cervix" EXACT [NCIT:C4029] synonym: "adenocarcinoma of the cervix uteri" EXACT [NCIT:C4029] synonym: "adenocarcinoma of the uterine cervix" EXACT [DOID:3702, NCIT:C4029] synonym: "adenocarcinoma of uterine cervix" EXACT [NCIT:C4029] synonym: "cervical adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "cervical adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "cervical adenocarcinoma" EXACT [NCIT:C4029, Orphanet:213772] synonym: "cervical adenocarcinoma" EXACT [NCIT:C4029] synonym: "cervix adenocarcinoma" EXACT [NCIT:C4029] synonym: "cervix uteri adenocarcinoma" EXACT [NCIT:C4029] synonym: "uterine cervix adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C4029] synonym: "uterine cervix adenocarcinoma" EXACT [NCIT:C4029] xref: DOID:3702 {source="MONDO:equivalentTo", source="EFO:0001416"} xref: EFO:0001416 {source="MONDO:equivalentTo"} xref: ICD10CM:C53.0 {source="Orphanet:213772", source="MONDO:relatedTo", source="Orphanet:213772/btnt"} xref: MONDO:0005153 xref: NCIT:C4029 {source="MONDO:equivalentTo", source="DOID:3702", source="EFO:0001416"} xref: OMIM:603956 xref: ONCOTREE:CEAD {source="MONDO:equivalentTo"} xref: Orphanet:213772 {source="MONDO:equivalentTo"} xref: SCTID:254887002 {source="MONDO:equivalentTo", source="DOID:3702", source="EFO:0001416"} is_a: EFO:0000228 {source="EFO:0001416", source="MONDO:0005153/inferred", source="MONDO:Redundant", source="NCIT:C4029"} ! adenocarcinoma is_a: EFO:0001061 {source="DOID:3702", source="MONDO:0005153/inferred", source="MONDO:Redundant", source="NCIT:C4029"} ! cervical carcinoma relationship: EFO:0000784 UBERON:0000002 ! has_disease_location uterine cervix relationship: has_characteristic MONDO:0021136 {source="MONDO:0016274"} ! rare property_value: closeMatch http://identifiers.org/mesh/D002583 property_value: closeMatch http://identifiers.org/snomedct/154522004 property_value: closeMatch http://identifiers.org/snomedct/269596006 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0279672 property_value: exactMatch DOID:3702 property_value: exactMatch DOID:3702 property_value: exactMatch http://identifiers.org/snomedct/254887002 property_value: exactMatch http://identifiers.org/snomedct/254887002 property_value: exactMatch NCIT:C4029 property_value: exactMatch NCIT:C4029 property_value: exactMatch Orphanet:213772 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4897 xsd:anyURI [Term] id: EFO:0001417 name: obsolete_sciatic nerve def: "The largest nerve of the body: origin, sacral plexus-L4-S3; it leaves the pelvis through the greater sciatic foramen; branches, divides into the tibial and common peroneal nerves, usually in lower third of thigh; distribution-see individual branches, in this table; modality, general sensory and motor." [] def: "The longest single nerve that is formed by the merging of the ventral rami of the L4, L5, and S1 in the pelvis and passes down the lower limb where it divides into the common peroneal and tibial nerves." [] synonym: "nervus ischiadicus" EXACT [] synonym: "nervus sciaticus" EXACT [] xref: BTO:0001221 xref: FMA:19034 xref: NCIt:C52810 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001322\nlabel: sciatic nerve" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001322 [Term] id: EFO:0001418 name: obsolete_biceps femoris def: "A muscle in the back of the thigh. Its action involves the knee flexion and hip extension." [] xref: NCIt:C53147 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001374\nlabel: biceps femoris" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001374 [Term] id: EFO:0001420 name: obsolete_sepsis def: "A disease of infectious agent resulting from the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions. These pathogens are able to cause disease in animals and/or plants. Infectious pathologies are usually qualified as contagious disease (also called communicable disease) due to their potentiality of transmission from one person or species to another." [] def: "Sepsis associated with organ dysfunction distant from the site of infection." [] def: "Septicemia caused by pyogenic microorganisms (e.g., STAPHYLOCOCCUS; BACILLUS), resulting in the formation of secondary foci of SUPPURATION and multiple ABSCESSES." [] def: "Systemic disease associated with the presence of pathogenic microorganisms or their toxins in the blood." [] def: "Systemic inflammatory response syndrome with a proven or suspected infectious etiology. When sepsis is associated with organ dysfunction distant from the site of infection, it is called severe sepsis. When sepsis is accompanied by HYPOTENSION despite adequate fluid infusion, it is called SEPTIC SHOCK." [] def: "The presence of pathogenic microorganisms in the blood stream causing a rapidly progressing systemic reaction that may lead to shock. Symptoms include fever, chills, tachycardia, and increased respiratory rate. It is a medical emergency that requires urgent medical attention." [] synonym: "BLOOD POIS" EXACT [] synonym: "Blood Poisoning" EXACT [] synonym: "Blood Poisonings" EXACT [] synonym: "POIS BLOOD" EXACT [] synonym: "Poisoning, Blood" EXACT [] synonym: "Poisonings, Blood" EXACT [] synonym: "Pyaemia" EXACT [] synonym: "Pyaemias" EXACT [] synonym: "Pyemia" EXACT [] synonym: "Pyemias" EXACT [] synonym: "Pyohemia" EXACT [] synonym: "Pyohemias" EXACT [] synonym: "Sepsis, NOS" EXACT [] synonym: "Sepsis, Severe" EXACT [] synonym: "Septicaemia, NOS" EXACT [] synonym: "Septicemia" EXACT [] synonym: "Septicemia, NOS" EXACT [] synonym: "Septicemias" EXACT [] synonym: "Severe Sepsis" EXACT [] synonym: "Systemic infection" EXACT [] synonym: "Systemic infection (disorder)" EXACT [] synonym: "Systemic infection, NOS" EXACT [] synonym: "toxemia" EXACT [] xref: ICD9:995.91 xref: MeSH:D018805 xref: NCIt:C111915 xref: NCIt:C3364 xref: SNOMEDCT:91302008 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.85" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HP_0100806 [Term] id: EFO:0001421 name: liver disease def: "A disease involving the liver." [https://orcid.org/0000-0002-6601-2165] def: "Any disease or dysfunction of the liver and the intrahepatic bile ducts." [] def: "Pathological processes of the LIVER." [] synonym: "[X]Diseases of the liver" EXACT [] synonym: "[X]Diseases of the liver (disorder)" EXACT [] synonym: "Disease of liver" EXACT [] synonym: "disease of liver" EXACT [MONDO:patterns/location_top] synonym: "disease of liver [Ambiguous]" EXACT [] synonym: "disease of the liver (disorder)" EXACT [] synonym: "disease or disorder of liver" EXACT [] synonym: "Disease, Liver" EXACT [] synonym: "Diseases, Liver" EXACT [] synonym: "Disorder of liver" EXACT [] synonym: "disorder of liver" EXACT [MONDO:patterns/location_top] synonym: "disorder of liver (disorder)" EXACT [] synonym: "Dysfunction, Liver" EXACT [] synonym: "Dysfunctions, Liver" EXACT [] synonym: "hepatic disease" EXACT [DOID:409] synonym: "hepatic disorder" EXACT [DOID:409, NCIT:C3196] synonym: "Hepatopathy" EXACT [] synonym: "LD - Liver disease" EXACT [] synonym: "Liver and Intrahepatic Bile Duct Disorder" EXACT [] synonym: "liver and intrahepatic bile duct disorder" EXACT [NCIT:C3196] synonym: "LIVER DIS" EXACT [] synonym: "liver disease" EXACT [MONDO:patterns/location] synonym: "liver disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "Liver Diseases" EXACT [] synonym: "Liver Disorder" EXACT [] synonym: "liver disorder" EXACT [NCIT:C3196] synonym: "liver disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "liver disorder antepartum" EXACT [] synonym: "Liver disorder in pregnancy" EXACT [] synonym: "Liver disorder in pregnancy (disorder)" EXACT [] synonym: "liver disorder in pregnancy - delivered" EXACT [] synonym: "Liver disorder in pregnancy - delivered (disorder)" EXACT [] synonym: "Liver disorder in pregnancy NOS (disorder)" EXACT [] synonym: "Liver disorder in pregnancy unspecified (disorder)" EXACT [] synonym: "Liver disorder in pregnancy, unspecified as to episode of care" EXACT [] synonym: "Liver disorder in pregnancy, with delivery" EXACT [] synonym: "Liver disorder NOS" EXACT [] synonym: "Liver disorder NOS (disorder)" EXACT [] synonym: "Liver Dysfunction" EXACT [] synonym: "Liver Dysfunctions" EXACT [] synonym: "Unspecified disorder of liver" EXACT [] xref: DOID:409 {source="EFO:0001421", source="MONDO:equivalentTo"} xref: ICD10:K75 xref: ICD10:K76 xref: ICD10CM:K70-K77 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="DOID:409", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:573.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:573.9 {source="EFO:0001421", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:409"} xref: MESH:D008107 {source="EFO:0001421", source="MONDO:equivalentTo", source="DOID:409"} xref: MeSH:D008107 xref: MONDO:0005154 xref: NCIT:C3196 {source="EFO:0001421", source="MONDO:equivalentTo", source="DOID:409"} xref: NCIt:C3196 xref: NCIt:C50634 xref: SCTID:235856003 {source="EFO:0001421", source="MONDO:equivalentTo", source="DOID:409"} xref: SNOMEDCT:15230009 xref: SNOMEDCT:199117000 xref: SNOMEDCT:235856003 xref: UMLS:C0023895 {source="MONDO:equivalentTo", source="DOID:409"} is_a: EFO:0001379 ! endocrine system disease is_a: EFO:0010284 {source="DOID:409", source="MONDO:Redundant", source="NCIT:C3196"} ! hepatobiliary disease property_value: exactMatch DOID:409 property_value: exactMatch http://identifiers.org/mesh/D008107 property_value: exactMatch http://identifiers.org/snomedct/235856003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023895 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K70-K77 property_value: exactMatch NCIT:C3196 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001422 name: cirrhosis of liver def: "A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy." [NCIT:P378] def: "A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholisms, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy." [] def: "Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules." [] synonym: "Cirrhoses, Hepatic" EXACT [] synonym: "Cirrhoses, Liver" EXACT [] synonym: "cirrhosis" EXACT [DOID:5082] synonym: "cirrhosis of liver" EXACT [] {comment="preferred label from MONDO"} synonym: "cirrhosis of liver" EXACT [DOID:5082] synonym: "Cirrhosis of liver (disorder)" EXACT [] synonym: "Cirrhosis of liver NOS" EXACT [] synonym: "Cirrhosis of liver NOS (disorder)" EXACT [] synonym: "Cirrhosis of liver without mention of alcohol" EXACT [] synonym: "Cirrhosis of liver, NOS" EXACT [] synonym: "Cirrhosis, Hepatic" EXACT [] synonym: "Cirrhosis, Liver" EXACT [] synonym: "CL - Cirrhosis of liver" EXACT [] synonym: "Fibroses, Liver" EXACT [] synonym: "Fibrosis, Liver" EXACT [] synonym: "Hepatic Cirrhoses" EXACT [] synonym: "Hepatic cirrhosis" EXACT [] synonym: "Hepatic cirrhosis, NOS" EXACT [] synonym: "Liver Cirrhoses" EXACT [] synonym: "liver cirrhosis" EXACT [] synonym: "liver cirrhosis" RELATED [DOID:5082] synonym: "Liver Fibroses" EXACT [] synonym: "Liver Fibrosis" EXACT [] xref: DOID:5082 {source="MONDO:equivalentTo", source="EFO:0001422"} xref: ICD10:K74 xref: ICD9:571.5 {source="EFO:0001422"} xref: MedDRA:10009213 xref: MESH:D008103 {source="MONDO:equivalentTo", source="EFO:0001422", source="DOID:5082"} xref: MeSH:D008103 xref: MONDO:0005155 xref: NCIT:C2951 {source="MONDO:equivalentTo", source="EFO:0001422", source="DOID:5082"} xref: NCIt:C2951 xref: OMIM:215600 xref: SCTID:19943007 {source="MONDO:equivalentTo", source="EFO:0001422", source="DOID:5082"} xref: SNOMEDCT:19943007 xref: UMLS:C0023890 {source="MONDO:equivalentTo", source="DOID:5082", source="NCIT:C2951"} is_a: EFO:0001421 {source="DOID:5082", source="EFO:0001422", source="EFO:0001422/inferred", source="MESH:D008103", source="NCIT:C2951/inferred"} ! liver disease is_a: EFO:0006890 ! fibrosis intersection_of: EFO:0006890 ! fibrosis intersection_of: EFO:0000784 UBERON:0002107 ! has_disease_location liver property_value: exactMatch DOID:5082 property_value: exactMatch http://identifiers.org/mesh/D008103 property_value: exactMatch http://identifiers.org/snomedct/19943007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023890 property_value: exactMatch NCIT:C2951 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001423 name: encephalomyelitis def: "A general term indicating inflammation of the BRAIN and SPINAL CORD, often used to indicate an infectious process, but also applicable to a variety of autoimmune and toxic-metabolic conditions. There is significant overlap regarding the usage of this term and ENCEPHALITIS in the literature." [] def: "Inflammation of the brain and the spinal cord." [NCIT:P378] synonym: "central nervous system inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "ENCEPH INFLAMM" EXACT [] synonym: "encephalitis" EXACT [] synonym: "Encephalitis &/or myelitis" EXACT [] synonym: "encephalitis &/or myelitis" EXACT [DOID:640] synonym: "encephalitis and/or myelitis" EXACT [DOID:640] synonym: "Encephalitis/myelitis NOS" EXACT [] synonym: "Encephalitis/myelitis NOS (disorder)" EXACT [] synonym: "encephalomyelitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Encephalomyelitis (disorder)" EXACT [] synonym: "Encephalomyelitis NOS" EXACT [] synonym: "Encephalomyelitis NOS (disorder)" EXACT [] synonym: "Encephalomyelitis, Inflammatory" EXACT [] synonym: "Encephalomyelitis, NOS" EXACT [] synonym: "INFLAMM ENCEPH" EXACT [] synonym: "inflammation of central nervous system" EXACT [] synonym: "Inflammatory Encephalomyelitis" EXACT [] synonym: "MYELOENCEPH" EXACT [] synonym: "Myeloencephalitides" EXACT [] synonym: "Myeloencephalitis" EXACT [] xref: DOID:640 {source="EFO:0001423", source="MONDO:equivalentTo"} xref: ICD9:323.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10014619 xref: MESH:D004679 {source="EFO:0001423", source="MONDO:equivalentTo", source="DOID:640"} xref: MeSH:D004679 xref: MONDO:0005156 xref: NCIT:C34580 {source="EFO:0001423", source="MONDO:equivalentTo", source="DOID:640"} xref: NCIt:C34580 xref: SCTID:62950007 {source="EFO:0001423", source="MONDO:equivalentTo", source="DOID:640"} xref: SNOMEDCT:62950007 xref: UMLS:C0014070 {source="NCIT:C34580", source="MONDO:equivalentTo", source="DOID:640"} is_a: EFO:0009386 {source="DOID:640", source="MESH:D004679", source="MESH:D004679/inferred", source="MONDO:Redundant", source="NCIT:C34580/inferred"} ! central nervous system disease is_a: EFO:0009903 {source="MONDO:Redundant", source="NCIT:C34580/inferred"} ! inflammatory disease relationship: EFO:0000784 UBERON:0001017 ! has_disease_location central nervous system relationship: EFO:0000784 UBERON:0001017 ! has_disease_location central nervous system property_value: exactMatch DOID:640 property_value: exactMatch http://identifiers.org/mesh/D004679 property_value: exactMatch http://identifiers.org/snomedct/62950007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014070 property_value: exactMatch NCIT:C34580 property_value: IAO:0000117 "Gautier Koscielny" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001424 name: obsolete_masseter muscle def: "A thick muscle in the cheek that closes the jaws during chewing." [] def: "Muscles arising in the zygomatic arch that close the jaw. (MeSH)" [] synonym: "masseter" EXACT [] synonym: "masticatory muscle" EXACT [] synonym: "Masticatory Muscles" EXACT [] xref: BTO:0001755 xref: NCIt:C13074 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001597\nlabel: masseter muscle" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001597 [Term] id: EFO:0001425 name: ischemic cardiomyopathy def: "Ischemic cardiomyopathy is a cardiomyopathy in which a weakness in the muscle of the heart due to inadequate oxygen delivery to the myocardium with coronary artery disease being the most common cause." [] xref: MedDRA:10055217 is_a: EFO:0000318 ! cardiomyopathy intersection_of: EFO:0000318 ! cardiomyopathy intersection_of: RO:0001000 EFO:0000612 ! derives_from myocardial infarction property_value: definition:citation WEB:http://en.wikipedia.org/wiki/Cardiomyopathy#Ischemic_cardiomyopathy xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001426 name: study design def: "A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a set of protocols (which may specify how and what kinds of data will be gathered)." [] synonym: "experimental design" EXACT [] xref: NCIt:C15320 xref: PERSON: James Malone is_a: OBI:0000272 ! protocol property_value: definition:citation "OBI_0500000" xsd:string property_value: IAO:0000112 "twin design" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jon Ison" xsd:string property_value: IAO:0000117 "Natalja Kurbatova" xsd:string [Term] id: EFO:0001427 name: case control design def: "A case-control study design compares two groups of subjects: those with the disease or condition under study (cases) and a very similar group of subjects who do not have the disease or condition (controls)." [] synonym: "Case-Control Study" EXACT [] xref: NCIt:C15197 is_a: EFO:0004667 ! biological variation design property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001428 name: cross sectional design def: "A study in which participants are examined at only a single time for characteristics of a disease." [] synonym: "Cross-Sectional Study" EXACT [] xref: NCIt:C53310 is_a: EFO:0004667 ! biological variation design property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001429 name: family based design def: "Research conducted on members of families, examining the affects of genetics, the environment, or twin offspring." [] synonym: "Familial Study" EXACT [] synonym: "family study" EXACT [] xref: MO:544 xref: NCIt:C15407 is_a: EFO:0004667 ! biological variation design property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001430 name: population based design def: "Multidisciplinary study done at the population level or among the population groups, generally to find the cause, incidence or spread of the disease or to see the response to the treatment, nutrition or environment." [] synonym: "Population Study" EXACT [] xref: NCIt:C15716 is_a: EFO:0004667 ! biological variation design property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001431 name: twin design def: "A twin study design is a study design in behavior genetics which aid the study of individual differences between genetically identical twins by highlighting the role of environmental and genetic causes on behavior." [] is_a: EFO:0001429 ! family based design property_value: definition:citation "Wikipedia definition, modified by editor." xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001432 name: obsolete_race def: "A race is a popluation categorized on the basis of various sets of heritable characteristics." [] def: "An arbitrary classification of a taxonomic group that is a division of a species. It usually arises as a consequence of geographical isolation within a species and is characterized by shared heredity, physical attributes and behavior, and in the case of humans, by common history, nationality, or geographic distribution." [] xref: NCIt:C17049 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.6.1" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use EFO_0001799 instead" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0001799 [Term] id: EFO:0001444 name: measurement def: "A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." [] xref: MO:144 xref: NCIt:C25209 xref: NIFSTD:sao279801585 xref: SNOMEDCT:122869004 is_a: IAO:0000030 ! information entity property_value: branch:class "true" xsd:string property_value: IAO:0000117 "" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001451 name: instrument design def: "An instrument design is information in the form of a specification that describes the setup and design of an instrument." [] is_a: IAO:0000030 ! information entity property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001456 name: DNA assay def: "An assay with input DNA" [] is_a: EFO:0002772 ! assay by molecule property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001457 name: RNA assay def: "An assay with input RNA" [] is_a: EFO:0002772 ! assay by molecule property_value: ArrayExpress:label "RNA assay" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001458 name: protein assay def: "An assay with input protein" [] is_a: EFO:0002772 ! assay by molecule property_value: ArrayExpress:label "Protein assay" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001460 name: uninfected def: "Uninfected class is a disposition in which the bearer is not known to be affected by a disease withtin the context of a study" [] is_a: BFO:0000016 ! disposition disjoint_from: EFO:0005753 ! ocular vascular disease disjoint_from: EFO:0005754 ! parathyroid disease disjoint_from: EFO:0005755 ! rheumatic disease property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001461 name: control def: "A control role is borne by a material in a process in which results obtained from an experimental sample and a control sample are compared." [] def: "The act of directing or determining; regulation or maintenance of a function or action; a relation of constraint of one entity (thing or person or group) by another." [] synonym: "Controlled" EXACT [] synonym: "Controlling" EXACT [] synonym: "reference sample" EXACT [] xref: NCIt:C61299 xref: SNOMEDCT:246106000 is_a: BFO:0000023 ! role property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001485 name: obsolete_antibiotic def: "Substance produced by, and obtained from, certain living cells (especially bacteria, yeasts and moulds), or an equivalent synthetic substance, which is biostatic or biocidal at low concentrations to some other form of life, especially pathogenic or noxious organisms." [] synonym: "antibiotics" EXACT [] synonym: "Antibiotika" EXACT [] synonym: "Antibiotikum" EXACT [] synonym: "antibiotique" EXACT [] xref: NCIt:C258 xref: SNOMEDCT:255631004 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "obsoletise antibiotic, replace by CHEBI:33281" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/CHEBI_33281 [Term] id: EFO:0001639 name: cancer cell line is_a: CL:0000010 ! cultured cell intersection_of: CL:0000010 ! cultured cell intersection_of: has_characteristic MONDO:0004992 ! cancer relationship: RO:0001000 MONDO:0004992 ! derives_from cancer property_value: IAO:0000117 "A cancer cell line is defined as something that is bearer of a cancer.\nA cancer cell line is a cell line." xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string [Term] id: EFO:0001640 name: B cell derived cell line is_a: CL:0000010 ! cultured cell [Term] id: EFO:0001641 name: epithelial cell derived cell line def: "An epithelial cell derived cell line is defined as something that derives from an epithelial cell." [] is_a: CL:0000010 ! cultured cell property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string [Term] id: EFO:0001642 name: lymphoid neoplasm def: "A neoplasm composed of a lymphocytic cell population which is usually malignant (clonal) by molecular genetic and/or immunophenotypic analysis. Lymphocytic neoplasms include Hodgkin and non-Hodgkin lymphomas, acute and chronic lymphocytic leukemias, and plasma cell neoplasms." [NCIT:C7065] synonym: "lymphocytic and plasma cell neoplasm" EXACT [NCIT:C7065] synonym: "lymphocytic and plasma cell tumor" EXACT [NCIT:C7065] synonym: "lymphocytic and plasma cell tumour" EXACT OMO:0003005 [] synonym: "lymphocytic and plasma cell tumour" EXACT [NCIT:C7065] synonym: "lymphocytic and plasmacytic neoplasm" EXACT [NCIT:C7065] synonym: "lymphocytic neoplasm" EXACT [NCIT:C7065] synonym: "lymphocytic tumor" EXACT [NCIT:C7065] synonym: "lymphocytic tumour" EXACT OMO:0003005 [] synonym: "lymphoid and plasma cell tumor" EXACT [NCIT:C7065] synonym: "lymphoid and plasma cell tumour" EXACT [NCIT:C7065] synonym: "lymphoid and plasma cell tumour" EXACT OMO:0003005 [] synonym: "lymphoid and plasmacytic neoplasm" EXACT [NCIT:C7065] synonym: "lymphoid and plasmacytic tumor" EXACT [NCIT:C7065] synonym: "lymphoid and plasmacytic tumour" EXACT OMO:0003005 [] synonym: "lymphoid and plasmacytic tumour" EXACT [NCIT:C7065] synonym: "lymphoid neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "lymphoid neoplasm" EXACT [NCIT:C7065] synonym: "lymphoid neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "lymphoid tumor" EXACT [NCIT:C7065] synonym: "lymphoid tumour" EXACT OMO:0003005 [] xref: EFO:0001642 {source="MONDO:equivalentTo"} xref: ICD9:200.7 {source="EFO:0001642"} xref: MONDO:0005157 xref: NCIT:C7065 {source="MONDO:equivalentTo", source="EFO:0001642"} xref: ONCOTREE:LYMPH {source="MONDO:equivalentTo"} xref: UMLS:C0598798 {source="NCIT:C7065", source="MONDO:equivalentTo"} is_a: MONDO:0044881 {source="NCIT:C7065"} ! hematopoietic and lymphoid cell neoplasm property_value: closeMatch http://identifiers.org/snomedct/414628006 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0024202 property_value: closeMatch NCIT:C13252 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0598798 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0598798 property_value: exactMatch NCIT:C7065 property_value: exactMatch NCIT:C7065 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0001643 name: kidney derived cell line is_a: CL:0000010 ! cultured cell [Term] id: EFO:0001644 name: obsolete_stria vascularis def: "A stria vascularis is part of a cochlea and is the upper part of the spiral ligament of thescala media that contains numerous small blood vessels." [] def: "The upper part of the spiral ligament of the scala media that contains numerous small blood vessels;nA layer of vascular tissue consisting of epithelial cells, mesothelial cells, and probably some neuroectoderm; it covers the outer wall of the cochlear duct and is thought to secrete the endolymph." [] synonym: "stria vascularis ductus cochlearis" EXACT [] synonym: "vascular stria of cochlear duct" EXACT [] xref: BTO:0001819 xref: MeSH:D013316 xref: NCI Metathesaurus: C0038445 xref: NIFSTD:birnlex_2525 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with UBERON_0002282" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002282 [Term] id: EFO:0001645 name: coronary artery disease def: "An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels." [] def: "Narrowing of the coronary arteries due to fatty deposits inside the arterial walls." [] def: "Narrowing of the coronary arteries due to fatty deposits inside the arterial walls. The diagnostic criteria may include documented history of any of the following: documented coronary artery stenosis greater than or equal to 50% (by cardiac catheterization or other modality of direct imaging of the coronary arteries); previous coronary artery bypass surgery (CABG); previous percutaneous coronary intervention (PCI); previous myocardial infarction. (ACC)" [NCIT:C26732] def: "Pathological processes of CORONARY ARTERIES that may derive from a congenital abnormality, atherosclerotic, or non-atherosclerotic cause." [] def: "Thickening and loss of elasticity of the CORONARY ARTERIES, leading to progressive arterial insufficiency (CORONARY DISEASE)." [] synonym: "Arterioscleroses, Coronary" EXACT [] synonym: "Arteriosclerosis, Coronary" EXACT [] synonym: "Artery Disease, Coronary" EXACT [] synonym: "Artery Diseases, Coronary" EXACT [] synonym: "Atheroscleroses, Coronary" EXACT [] synonym: "Atherosclerosis, Coronary" EXACT [] synonym: "CAD" EXACT ABBREVIATION [NCIT:C26732] synonym: "CHD" EXACT ABBREVIATION [DOID:3393] synonym: "CHD (coronary heart disease)" EXACT [DOID:3393] synonym: "CHD - Coronary heart disease" EXACT [] synonym: "Coronary Arterioscleroses" EXACT [] synonym: "Coronary Arteriosclerosis" EXACT [] synonym: "coronary arteriosclerosis" NARROW [DOID:3393] synonym: "CORONARY ARTERY DIS" EXACT [] synonym: "Coronary Artery Disease" EXACT [] synonym: "coronary artery disease" EXACT [MONDO:patterns/location, NCIT:C26732] synonym: "coronary artery disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "Coronary Artery Diseases" EXACT [] synonym: "coronary artery disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "Coronary Atheroscleroses" EXACT [] synonym: "Coronary Atherosclerosis" EXACT [] synonym: "CORONARY DIS" EXACT [] synonym: "Coronary Disease" EXACT [] synonym: "coronary disease" EXACT [DOID:3393, NCIT:C26732] synonym: "Coronary Diseases" EXACT [] synonym: "CORONARY HEART DIS" EXACT [] synonym: "coronary heart disease" EXACT [DOID:3393, MONDO:0000016, NCIT:C26732] synonym: "Coronary Heart Diseases" EXACT [] synonym: "disease of coronary artery" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of coronary artery" EXACT [] synonym: "Disease, Coronary" EXACT [] synonym: "Disease, Coronary Artery" EXACT [] synonym: "Disease, Coronary Heart" EXACT [] synonym: "Diseases, Coronary" EXACT [] synonym: "Diseases, Coronary Artery" EXACT [] synonym: "Diseases, Coronary Heart" EXACT [] synonym: "disorder of coronary artery" EXACT [MONDO:patterns/location_top] synonym: "Heart Disease, Coronary" EXACT [] synonym: "Heart Diseases, Coronary" EXACT [] xref: DOID:3393 {source="EFO:0000378", source="MONDO:equivalentTo"} xref: ICD10:I25 xref: ICD9:410-414.99 {source="EFO:0001645", source="DOID:3393"} xref: ICD9:414.0 {source="EFO:0000378", source="DOID:3393"} xref: ICD9:414.9 {source="DOID:3393"} xref: MedDRA:10011078 xref: MESH:D003324 {source="EFO:0000378", source="MONDO:equivalentTo", source="DOID:3393"} xref: MESH:D017202 {source="DOID:3393", source="MONDO:directSiblingOf"} xref: MONDO:0005010 xref: NCIT:C26732 {source="EFO:0000378", source="MONDO:equivalentTo", source="EFO:0001645"} xref: NCIt:C26732 xref: NCIt:C50625 xref: OMIM:608320 xref: OMIM:608901 xref: OMIM:610938 xref: OMIM:614466 xref: OMIM:617347 xref: SCTID:414024009 {source="MONDO:equivalentTo"} xref: SCTID:414545008 {source="EFO:0001645", source="DOID:3393", source="MONDO:directSiblingOf"} xref: SNOMEDCT:414545008 xref: SNOMEDCT:443502000 xref: SNOMEDCT:53741008 xref: UMLS:C0151744 {source="DOID:3393", source="MONDO:directSiblingOf"} xref: UMLS:C1956346 {source="MONDO:equivalentTo", source="NCIT:C26732"} is_a: EFO:0003777 {source="EFO:0000378/inferred", source="MESH:D003324/inferred", source="MONDO:Redundant", source="NCIT:C26732/inferred"} ! heart disease is_a: MONDO:0000473 {source="DOID:3393", source="MONDO:Redundant"} ! arterial disorder relationship: EFO:0000784 UBERON:0000948 ! has_disease_location heart property_value: exactMatch DOID:3393 property_value: exactMatch http://identifiers.org/mesh/D003324 property_value: exactMatch http://identifiers.org/snomedct/414024009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1956346 property_value: exactMatch NCIT:C26732 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001646 name: anatomical modifier def: "An anatomical modifier is a quality which inheres in an organism part." [] xref: MAT:0000476 is_a: BFO:0000019 ! quality property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001647 name: tissue modifier def: "A tissue modifier is an anatomical modifier which describes some quality about a tissue." [] xref: MAT:0000477 is_a: EFO:0001646 ! anatomical modifier property_value: IAO:0000112 "A nasal placode" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001648 name: geometric modifier def: "A geometric modifier is an anatomical modifier which describes some quality about the geometric position of some organism part." [] xref: MAT:0000483 is_a: EFO:0001646 ! anatomical modifier property_value: IAO:0000112 "A dorsal fin" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001649 name: obsolete_anlage def: "An anlage is a tissue modifier describing some tissue which precedes something other, such as a precursor or forerunner for a more mature structure. For example, the stomach anlage." [] xref: MAT:0000478 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0007688\nlabel: anlage" xsd:string property_value: IAO:0000112 "stomach anlage" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0007688 [Term] id: EFO:0001650 name: placode def: "A placode is a tissue modifier describing the thickening of embryonic ectoderm from which a definitive structure develops. For example, the cranial placodes." [] xref: MAT:0000479 is_a: EFO:0001647 ! tissue modifier property_value: IAO:0000112 "cranial placodes" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001651 name: precursor def: "A precursor is a tissue modifier describing a substance, cell, or cellular component from which another substance, cell, or cellular component is formed. For example, muscle precursor cell." [] xref: MAT:0000481 xref: NCIt:C48044 xref: NIFSTD:sao2146594471 is_a: EFO:0001647 ! tissue modifier property_value: IAO:0000112 "muscle precursor cell" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001652 name: obsolete_primordium def: "A primordium is a tissue modifier describing an organ or tissue in its earliest recognizable stage of development. For example, intestinal primordium." [] xref: MAT:0000482 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001048\nlabel: primordium" xsd:string property_value: IAO:0000112 "intestinal primordium" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001048 [Term] id: EFO:0001653 name: apical def: "Apical is a geometric modifier describing the tip of a pyramidal or rounded structure. For example, lung apical." [] xref: MAT:0000484 xref: NCIt:C25423 xref: NIFSTD:sao1703115805 xref: SNOMEDCT:43674008 is_a: EFO:0001648 ! geometric modifier property_value: IAO:0000112 "lung apical" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001654 name: basal def: "Basal is a geometric modifier describing areas associated with the base of an organism or organism part. For example, basal ganglia." [] xref: MAT:0000485 xref: NCIt:C90067 xref: NIFSTD:sao-282380853 xref: SNOMEDCT:57195005 is_a: EFO:0001648 ! geometric modifier property_value: IAO:0000112 "basal ganglia" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001655 name: distal def: "Distal is a geometric modifier describing the point furthest from the point of attachment to the body or to some point of origin. For example, distal end of femur." [] xref: MAT:0000486 xref: NCIt:C25237 xref: SNOMEDCT:46053002 is_a: EFO:0001648 ! geometric modifier property_value: IAO:0000112 "distal end of femur" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001656 name: dorsal def: "Dorsal is a geometric modifier describing parts of an organism relating to or situated near or on the back. For example, dorsal fin." [] xref: MAT:0000487 xref: NCIt:C45874 xref: SNOMEDCT:255554000 is_a: EFO:0001648 ! geometric modifier property_value: IAO:0000112 "dorsal fin" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001657 name: lateral def: "Lateral is a geometric modifier describing something which is of or pertaining to the side." [] xref: MAT:0000488 xref: NCIt:C25230 xref: SNOMEDCT:49370004 is_a: EFO:0001648 ! geometric modifier property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001658 name: left def: "Left is a geometric modifier describing something which is to the left of the median of an organism or organism part, for example left arm." [] xref: MAT:0000489 xref: NCIt:C25229 xref: SNOMEDCT:7771000 is_a: EFO:0001648 ! geometric modifier property_value: IAO:0000112 "left arm" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001659 name: right def: "Right is a geometric modifier describing something which is to the right of the median of an organism or organism part, for example right arm." [] xref: MAT:0000492 xref: NCIt:C25228 xref: SNOMEDCT:24028007 is_a: EFO:0001648 ! geometric modifier property_value: IAO:0000112 "right arm" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001660 name: medial def: "Medial is a geometric modifier describing something which is pertaining to, in or toward the middle, for example medial meniscus." [] xref: MAT:0000490 xref: NCIt:C25232 xref: SNOMEDCT:255561001 is_a: EFO:0001648 ! geometric modifier property_value: IAO:0000112 "medial meniscus" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001661 name: proximal def: "Proximal is a geometric modifier describing the point at which an appendage joins the body or the point nearest to some point of origin, for example proximal tibia." [] xref: MAT:0000491 xref: NCIt:C25236 xref: SNOMEDCT:40415009 is_a: EFO:0001648 ! geometric modifier property_value: IAO:0000112 "proximal tibia" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001662 name: ventral def: "Ventral is a geometric modifier describing parts pertaining to the front or anterior of any structure, for example ventral striatum." [] xref: MAT:0000493 xref: NCIt:C45875 is_a: EFO:0001648 ! geometric modifier property_value: IAO:0000112 "ventral striatum" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001663 name: prostate carcinoma def: "A carcinoma that arises from epithelial cells of the prostate gland." [https://orcid.org/0000-0002-6601-2165] def: "A carcinoma that arises from epithelial cells of the prostate gland." [MONDO:DesignPattern] synonym: "cancer of prostate" NARROW [NCIT:C4863] synonym: "cancer of the prostate" NARROW [NCIT:C4863] synonym: "carcinoma of prostate" EXACT [NCIT:C4863] synonym: "carcinoma of prostate gland" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of the prostate" EXACT [NCIT:C4863] synonym: "prostate cancer" NARROW [NCIT:C4863] synonym: "prostate cancer, NOS" NARROW [NCIT:C4863] synonym: "prostate carcinoma" EXACT [NCIT:C4863] synonym: "prostate carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "prostate carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "prostate gland carcinoma" EXACT [MONDO:patterns/location] xref: DOID:10286 {source="EFO:0001663", source="MONDO:equivalentTo"} xref: EFO:0001663 {source="MONDO:equivalentTo", source="DOID:10286"} xref: KEGG:05215 {source="MONDO:relatedTo", source="DOID:10286"} xref: MONDO:0005159 xref: NCIT:C4863 {source="EFO:0001663", source="MONDO:equivalentTo", source="DOID:10286"} xref: OMIM:176807 xref: UMLS:C0600139 {source="MONDO:equivalentTo", source="NCIT:C4863", source="DOID:10286"} is_a: EFO:0000313 {source="DOID:10286", source="EFO:0001663", source="MONDO:Redundant", source="NCIT:C4863"} ! carcinoma is_a: MONDO:0008315 {source="DOID:10286", source="MONDO:Redundant", source="NCIT:C4863"} ! prostate cancer relationship: EFO:0000784 UBERON:0002367 ! has_disease_location prostate gland property_value: closeMatch http://identifiers.org/snomedct/154531004 property_value: closeMatch http://identifiers.org/snomedct/254900004 property_value: closeMatch http://identifiers.org/snomedct/363448003 property_value: exactMatch DOID:10286 property_value: exactMatch DOID:10286 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0600139 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0600139 property_value: exactMatch NCIT:C4863 property_value: exactMatch NCIT:C4863 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:0001664 name: obsolete_foreskin def: "A fold of skin that covers the glans of the penis." [] synonym: "prepuce" EXACT [] xref: BTO:0001113 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0001332 label : prepuce of penis" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001332 [Term] id: EFO:0001666 name: aortic aneurysm def: "a protruding sac formed by the dilation of the wall of the aorta resulting from a weakening of the vessel wall" [] def: "A ruptured aneurysm located in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta." [NCIT:P378] def: "An abnormal balloon- or sac-like dilatation in the wall of AORTA." [] def: "protruding sac formed by dilation of the aorta" [] synonym: "abdominal aortic aneurysm, ruptured" EXACT [DOID:3627, ICD9CM:441.3] synonym: "Aneurysm, Aortic" EXACT [] synonym: "Aneurysms, Aortic" EXACT [] synonym: "aortic aneurysm" EXACT [] {comment="preferred label from MONDO"} synonym: "aortic aneurysm" EXACT [MONDO:ambiguous] synonym: "aortic aneurysm (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "aortic aneurysm of unspecified site, ruptured" EXACT [DOID:3627, ICD9CM:441.5] synonym: "Aortic Aneurysms" EXACT [] synonym: "ruptured abdominal aortic aneurysm" EXACT [DOID:3627, NCIT:C27046] synonym: "ruptured aortic aneurysm" EXACT [DOID:3627, NCIT:C27198] synonym: "ruptured thoracic aneurysm" EXACT [DOID:3627, NCIT:C27299] synonym: "ruptured thoracic aortic aneurysm" EXACT [DOID:3627] synonym: "ruptured thoracoabdominal aortic aneurysm" EXACT [DOID:3627] synonym: "thoracic aortic aneurysm which HAS ruptured" EXACT [DOID:3627] synonym: "thoracic aortic aneurysm, ruptured" EXACT [DOID:3627, ICD9CM:441.1] synonym: "thoracoabdominal aortic aneurysm, ruptured" EXACT [DOID:3627] xref: DOID:3627 {source="MONDO:equivalentTo", source="EFO:0001666"} xref: HP:0004942 {source="MONDO:otherHierarchy"} xref: ICD10:I71 xref: ICD9:441.1 {source="DOID:3627"} xref: ICD9:441.3 {source="DOID:3627"} xref: ICD9:441.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:3627"} xref: ICD9:441.6 {source="DOID:3627"} xref: MedDRA:10002882 xref: MESH:D001014 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo", source="EFO:0001666", source="DOID:3627"} xref: MeSH:D001014 xref: MONDO:0005160 xref: MP:0006278 {source="EFO:0001666"} xref: NCIt:C26697 xref: OMIM:607086 xref: SCTID:73067008 {source="MONDO:equivalentTo", source="DOID:3627"} xref: SNOMEDCT:67362008 xref: UMLS:C0003486 {source="MONDO:equivalentTo", source="DOID:3627"} xref: UMLS:C0265010 {source="MONDO:equivalentTo", source="DOID:3627"} xref: UMLS:C0265012 {source="MONDO:equivalentTo", source="DOID:3627"} xref: UMLS:C0741160 {source="MONDO:equivalentTo", source="DOID:3627"} xref: UMLS:C1305122 {source="MONDO:equivalentTo", source="DOID:3627"} is_a: EFO:0005775 {source="DOID:3627"} ! aortic disease relationship: EFO:0000784 UBERON:0000947 ! has_disease_location aorta property_value: exactMatch DOID:3627 property_value: exactMatch http://identifiers.org/mesh/D001014 property_value: exactMatch http://identifiers.org/snomedct/73067008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003486 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265010 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265012 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0741160 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1305122 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: IAO:0000589 "aortic aneurysm (disease)" xsd:string [Term] id: EFO:0001667 name: CEM/C1 synonym: "CEM-c1" EXACT [] xref: atcc:CRL-2265 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000209 ! T-cell acute lymphoblastic leukemia property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001668 name: human papilloma virus infection def: "A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact." [] def: "An infectious process caused by a human papillomavirus. This infection can cause abnormal tissue growth." [NCIT:P378] synonym: "HPV" EXACT [] synonym: "HPV infection" EXACT [] synonym: "Human Papilloma Virus Infection" EXACT [] synonym: "Human papilloma Virus infection" EXACT [NCIT:C27851] synonym: "human papilloma virus infection" EXACT [] {comment="preferred label from MONDO"} synonym: "Human papillomavirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Human papillomavirus disease or disorder" EXACT [] synonym: "Human Papillomavirus Infection" EXACT [] synonym: "Human Papillomavirus infection" EXACT [NCIT:C27851] synonym: "Human papillomavirus infectious disease" EXACT [] xref: DOID:11166 {source="MONDO:equivalentTo"} xref: ICD9:079.4 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10063001 xref: MONDO:0005161 xref: NCIT:C27851 {source="MONDO:equivalentTo", source="EFO:0001668"} xref: NCIt:C27851 xref: SCTID:240532009 {source="MONDO:equivalentTo", source="EFO:0001668"} xref: SNOMEDCT:240532009 xref: UMLS:C0343641 {source="NCIT:C27851", source="MONDO:equivalentTo"} is_a: MONDO:0100329 ! primary viral infectious disease property_value: exactMatch DOID:11166 property_value: exactMatch http://identifiers.org/snomedct/240532009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343641 property_value: exactMatch NCIT:C27851 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001669 name: obsolete_influenza infection property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.15.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate of http://www.ebi.ac.uk/efo/EFO_0007328." xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0007328 [Term] id: EFO:0001670 name: obsolete_mediastinal lymph node def: "A lymph node located in the mediastinum. Mediastinal lymph nodes are arranged in three groups, one on the lateral, another on the medial, and a third on the anterior aspect of the vessels; the third group is, however, sometimes absent." [] xref: NCIt:C33073 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002524\nlabel: mediastinal lymph node" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002524 [Term] id: EFO:0001674 name: placebo def: "An inactive substance, treatment or procedure that is intended to provide baseline measurements for the experimental protocol of a clinical trial." [] synonym: "placebo therapy" EXACT [] synonym: "PLCB" EXACT [] synonym: "sham therapy" EXACT [] xref: NCIt:C753 is_a: CHEBI:24432 ! biological role property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001675 name: simian immunodeficiency virus infection def: "An infection affecting monkeys, chimpanzees, and other non human primates caused by a HIV-like virus." [EFO:0001675] synonym: "Simian immunodeficiency virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Simian immunodeficiency virus disease or disorder" EXACT [] synonym: "simian immunodeficiency virus infection" EXACT [] {comment="preferred label from MONDO"} synonym: "Simian immunodeficiency virus infectious disease" EXACT [] synonym: "SIV" EXACT [] xref: MONDO:0005163 is_a: EFO:0000763 ! viral disease is_a: MONDO:0700053 {source="EFO:0001675", source="MONDO:Redundant"} ! viral infectious disease, non-human animal property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001695 name: size def: "A morphology quality inhering in a bearer by virtue of the bearer's physical magnitude." [] def: "Size is a morphology quality which describes a material entity's physical magnitude." [] xref: NCIt:C25681 xref: PATO:0000117 xref: SNOMEDCT:246115007 is_a: PATO:0000051 ! morphology property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001696 name: area def: "A 2-D extent quality inhering in a bearer by virtue of the bearer's two dimensional extent." [] def: "An area is a size quality which describes the two dimensional extent of a material entity." [] xref: NCIt:C25244 xref: PATO:0001323 xref: SNOMEDCT:42798000 is_a: EFO:0001695 ! size property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001702 name: temperature def: "A physical quality of the thermal energy of a system." [] def: "Temperature is a physical quality of the thermal energy of a system." [] xref: MeSH:D013696 xref: MO:791 xref: NCIt:C25206 xref: PATO:0000146 xref: SNOMEDCT:246508008 xref: SNOMEDCT:703421000 is_a: BFO:0000019 ! quality property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001703 name: derived mass unit def: "A dervied mass unit is a derived unit which is a measure of the the amount of matter/energy of a physical object, derived from the base unit for mass." [] xref: PERSON: James Malone is_a: UO:0000046 ! derived unit property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001715 name: volume def: "A 3-D extent quality inhering in a bearer by virtue of the bearer's amount of 3-dimensional space it occupies." [] def: "A volume is a size quality which describes the amount of 3-dimensional space an object occupies." [] xref: NCIt:C25335 xref: NCIt:C43320 xref: NIFSTD:birnlex_2391 xref: NIFSTD:sao196989303 xref: PATO:0000918 xref: SNOMEDCT:118565006 is_a: EFO:0001695 ! size property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001721 name: femtometer def: "A femtometer is a length unit which is equal to 1m x 10^-15." [] synonym: "femtometre" EXACT [] synonym: "fm" EXACT [] xref: NCIt:C69147 xref: PERSON: James Malone is_a: UO:0000001 ! length unit property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001728 name: array manufacturer synonym: "array_manufacturer" EXACT [] xref: MO:890 is_a: BFO:0000023 ! role property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001729 name: biomaterial provider synonym: "biomaterial_provider" EXACT [] xref: MO:591 is_a: BFO:0000023 ! role property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001730 name: biosequence provider synonym: "biosequence_provider" EXACT [] xref: MO:881 is_a: BFO:0000023 ! role property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001731 name: consortium member synonym: "consortium_member" EXACT [] xref: MO:778 is_a: BFO:0000023 ! role property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001732 name: consultant def: "A person who provides expert advice professionally." [] xref: MO:984 is_a: BFO:0000023 ! role relationship: characteristic_of NCBITaxon:9606 ! Homo sapiens relationship: characteristic_of OBI:0000245 ! organization property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001733 name: curator def: "The person in charge of the care and superintendence of something, especially a collection." [] xref: MO:893 xref: NCIt:C69141 is_a: BFO:0000023 ! role relationship: characteristic_of NCBITaxon:9606 ! Homo sapiens relationship: characteristic_of OBI:0000245 ! organization property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001734 name: data analyst synonym: "data_analyst" EXACT [] xref: MO:753 is_a: BFO:0000023 ! role property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001735 name: data coder synonym: "data_coder" EXACT [] xref: MO:695 is_a: BFO:0000023 ! role property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001736 name: funder xref: MO:520 is_a: BFO:0000023 ! role property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001737 name: hardware manufacturer synonym: "hardware_manufacturer" EXACT [] xref: MO:763 is_a: BFO:0000023 ! role property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001738 name: institution xref: MO:601 xref: NCIt:C41206 xref: NIFSTD:birnlex_2085 xref: SNOMEDCT:385437003 is_a: BFO:0000023 ! role relationship: characteristic_of OBI:0000245 ! organization property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001739 name: investigator def: "An individual who conducts scientific research. In a clinical setting this individual actually conducts and/or supervises the clinical investigation and study-related procedures. The investigator monitors the safety of the trial subjects and investigational staff (under whose immediate direction an agent is administered or dispensed to a subject). The investigator collects and analyses data and study documents, and provides reports in compliance with applicable requirements. [ NCI ]" [] xref: MO:769 xref: NCIt:C25936 is_a: BFO:0000023 ! role property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001740 name: software manufacturer synonym: "software_manufacturer" EXACT [] xref: MO:475 is_a: BFO:0000023 ! role property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001741 name: submitter def: "A person who presents or submits something (e.g., a proposal or protocol) for formal consideration or review by others. [ NCI ]" [] xref: MO:882 xref: NCIt:C54269 is_a: BFO:0000023 ! role property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001742 name: publication status def: "An information entity about the status of a publication describing the experiment." [] is_a: IAO:0000030 ! information entity property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001743 name: cell component comparison design def: "A cell component comparison study design in which RNA from different cell components is examined." [] def: "A design in which RNA from different cell components is examined." [] synonym: "cell_component_comparison_design" EXACT [] xref: MO:1019 is_a: EFO:0004667 ! biological variation design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001744 name: cell cycle design def: "A cell cycle design study design type is one that assays events that occurs in relation to the cell cycle, which is the period between the formation of a cell, by division of its mother cell and the time when the cell itself divides to form two daughter cells." [] synonym: "cell_cycle_design" EXACT [] xref: MO:822 is_a: EFO:0004667 ! biological variation design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001745 name: cell type comparison design def: "A cell type study design experiment design type compares cells of different type for example different cell lines." [] synonym: "cell_type_comparison_design" EXACT [] xref: MO:764 is_a: EFO:0004667 ! biological variation design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001746 name: development or differentiation design def: "A development or differentiation study design type assays events associated with development or differentiation or moving through a life cycle. Development applies to organism(s) acquiring a mature state, and differentiation applies to cells acquiring specialized functions." [] synonym: "development_or_differentiation_design" EXACT [] xref: MO:892 is_a: EFO:0004667 ! biological variation design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001747 name: imprinting design def: "An imprinting study design type compares differences in genetic imprinting of maternally- and paternally-inherited chromosomes (e.g., due to in vivo differences in chemical modification and/or chromatin structure)." [] synonym: "imprinting_design" EXACT [] xref: MO:914 is_a: EFO:0004667 ! biological variation design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001748 name: genotype design def: "A genotype study design type compares genotype, haplotype, or other individual genetic characteristics." [] synonym: "individual_genetic_characteristics_design" EXACT [] xref: MO:527 is_a: EFO:0004667 ! biological variation design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001749 name: innate behavior design def: "An innate behaviour study design type in which the innate behavior of the organism is examined, e.g. path finding in bees." [] synonym: "innate_behavior_design" EXACT [] xref: MO:355 is_a: EFO:0004667 ! biological variation design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001750 name: organism part comparison design def: "An organism part comparison study design type compares tissues, regions, organs within or between organisms." [] synonym: "organism_part_comparison_design" EXACT [] xref: MO:953 is_a: EFO:0004667 ! biological variation design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001751 name: organism status design def: "A design that compares samples from live and dead organisms." [] synonym: "organism_status_design" EXACT [] xref: MO:841 is_a: EFO:0004667 ! biological variation design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001752 name: sex design def: "A sex study design type assays differences associated with an organism's sex, gender or mating type." [] synonym: "sex_design" EXACT [] xref: MO:575 is_a: EFO:0004667 ! biological variation design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001753 name: species design def: "A species study design type assays differences between distinct species." [] synonym: "species_design" EXACT [] xref: MO:675 is_a: EFO:0004667 ! biological variation design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001754 name: strain or line design def: "A strain or line study design type assays differences between multiple strains, cultivars, serovars, isolates, lines from organisms of a single species." [] synonym: "strain_or_line_design" EXACT [] xref: MO:462 is_a: EFO:0004667 ! biological variation design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001755 name: compound treatment design def: "A compound treatment study design type is where the response to administration of a compound or chemical (including biological compounds such as hormones) is assayed." [] synonym: "compound_treatment_design" EXACT [] xref: MO:555 is_a: EFO:0004667 ! biological variation design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001756 name: disease state design def: "A disease state study design type in which the pathological condition of a part, organ, or system of an organism is studied. The etiology may be from infection, genetic defect, or environmental stress." [] synonym: "disease_state_design" EXACT [] xref: MO:902 is_a: EFO:0004667 ! biological variation design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001757 name: dose response design def: "A dose response study design type examines the relationship between the size of the administered dose and the extent of the response of the organism(s)." [] synonym: "dose_response_design" EXACT [] xref: MO:485 is_a: EFO:0004667 ! biological variation design property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001758 name: genetic modification design def: "A genetic modification study design type is where an organism(s) has had genetic material removed, rearranged, mutagenized or added, such as knock out." [] synonym: "genetic_modification_design" EXACT [] xref: MO:447 is_a: EFO:0004667 ! biological variation design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001759 name: growth condition design def: "A growth condition study design type is where some part of the growth condition is changed for the purposes of the experiment, examples of growth conditions changed are media, temperature, humidity, light, nutrients." [] synonym: "growth_condition_design" EXACT [] xref: MO:588 is_a: EFO:0004667 ! biological variation design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001760 name: injury design def: "An injury study design type is where the response of an organism(s) to injury or damage is studied." [] synonym: "injury_design" EXACT [] xref: MO:726 is_a: EFO:0004667 ! biological variation design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001761 name: pathogenicity design def: "A pathogenicity study design type is where an infective agent such as a bacterium, virus, protozoan, fungus etc. infects a host organism(s) and the infective agent is assayed." [] synonym: "pathogenicity_design" EXACT [] xref: MO:807 is_a: EFO:0004667 ! biological variation design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001762 name: stimulus or stress design def: "A stimulus or stress study design type is where the response of an organism(s) to the stress or stimulus is studied, e.g. osmotic stress, heat shock, radiation exposure, behavioral treatment etc." [] synonym: "stimulus_or_stress_design" EXACT [] xref: MO:568 is_a: EFO:0004667 ! biological variation design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001763 name: all pairs def: "An all pairs study design type is where all labeled extracts are compared to every other labeled extract." [] synonym: "all_pairs" EXACT [] xref: MO:565 is_a: EFO:0004668 ! array specific design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001764 name: array platform variation design def: "An experiment in which the array platform is compared, e.g. Agilent versus Affy." [] synonym: "array_platform_variation_design" EXACT [] xref: MO:899 is_a: EFO:0004668 ! array specific design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001765 name: dye swap design def: "A dye swap study design type where the label orientations are reversed. exact synonym: flip dye, dye flip" [] synonym: "dye_swap_design" EXACT [] xref: MO:858 is_a: EFO:0004668 ! array specific design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001766 name: obsolete_ex vivo design xref: MO:808 property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0001767 name: hardware variation design def: "A hardware variation study design type compares different types of hardware for performance, reproducibility, accuracy and precision." [] synonym: "hardware_variation_design" EXACT [] xref: MO:734 is_a: EFO:0004669 ! methodological variation design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001768 name: obsolete_in vitro design xref: MO:347 property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0001769 name: obsolete_in vivo design xref: MO:454 property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0001770 name: loop design def: "A loop study design is where labeled extracts are compared in consecutive pairs. synonym: circular design." [] synonym: "loop_design" EXACT [] xref: MO:912 is_a: EFO:0004668 ! array specific design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001771 name: normalization testing design def: "A normalization testing study design tests different normalization procedures." [] synonym: "normalization_testing_design" EXACT [] xref: MO:729 is_a: EFO:0004669 ! methodological variation design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001772 name: operator variation design def: "An operator variation study design type assesses the operator performance and relation to data consistency and quality." [] synonym: "operator_variation_design" EXACT [] xref: MO:519 is_a: EFO:0004669 ! methodological variation design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001773 name: optimization design def: "An optimization study design type is where different protocols or protocol parameters are compared." [] synonym: "optimization_design" EXACT [] xref: MO:934 is_a: EFO:0004669 ! methodological variation design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001774 name: quality control testing design def: "A quality control testing study design type is where some aspect of the experiment is quality controlled for the purposes of quality assurance." [] synonym: "quality_control_testing_design" EXACT [] xref: MO:981 is_a: EFO:0004669 ! methodological variation design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001775 name: reference design def: "A reference study design type is where all samples are compared to a common reference." [] synonym: "reference_design" EXACT [] xref: MO:699 is_a: EFO:0004669 ! methodological variation design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001776 name: replicate design def: "A replicate study design type is where a series of replicates are performed to evaluate reproducibility or as a pilot study to determine the appropriate number of replicates for a subsequent experiments." [] synonym: "replicate_design" EXACT [] xref: MO:885 is_a: EFO:0004669 ! methodological variation design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001777 name: self vs self design def: "A self vs. self study design investigates variance and error estimates in the experimental system, and is where the same extract is compared." [] synonym: "self_vs_self_design" EXACT [] xref: MO:490 is_a: EFO:0004668 ! array specific design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001778 name: software variation design def: "A software variation study design type compares different types of software for performance, accuracy, precision and reproducibility." [] synonym: "software_variation_design" EXACT [] xref: MO:643 is_a: EFO:0004669 ! methodological variation design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001779 name: time series design def: "A time series study design type examines groups of assays that are related as part of a time series." [] synonym: "time_series_design" EXACT [] xref: MO:887 is_a: EFO:0004667 ! biological variation design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001780 name: clinical history design def: "A clinical history study design type is where the organisms clinical history of diagnosis, treatments, e.g. vaccinations, surgery etc. is studied." [] synonym: "clinical_history_design" EXACT [] xref: MO:832 is_a: EFO:0004667 ! biological variation design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001781 name: obsolete_disease state design xref: MO:902 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.8" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplication with EFO_0001756" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0001756 [Term] id: EFO:0001782 name: obsolete_family history design def: "A family history study design type is where the family history such as traits, characteristics, susceptibility to disease is studied." [] xref: MO:544 property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0001783 name: RNA stability design def: "A RNA stability study design type examines the stability and/or decay of RNA transcripts." [] synonym: "RNA_stability_design" EXACT [] xref: MO:553 is_a: EFO:0004667 ! biological variation design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001784 name: genotyping design def: "A genotyping experiment design type classifies an individual or group of individuals on the basis of alleles, haplotypes, SNP's." [] synonym: "genotyping_design" EXACT [] xref: MO:560 is_a: EFO:0004665 ! biomolecular annotation design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001785 name: operon identification design def: "An operon identification experiment type is designed to identify locations and members of operons in a genome." [] synonym: "operon_identification_design" EXACT [] xref: MO:772 is_a: EFO:0004665 ! biomolecular annotation design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001786 name: secreted protein identification design def: "A secreted protein identification design type identifies transcripts associated with a secretory pathway during translation and is used to infer which proteins are secreted or membrane bound." [] synonym: "secreted_protein_identification_design" EXACT [] xref: MO:694 is_a: EFO:0004665 ! biomolecular annotation design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001787 name: translational bias design def: "A translational bias is an experiment design which characterizes the association of transcripts and translation machinery." [] synonym: "translational_bias_design" EXACT [] xref: MO:939 is_a: EFO:0004665 ! biomolecular annotation design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001794 name: submitted def: "Publication submitted to a journal for publication." [] is_a: EFO:0001742 ! publication status property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001795 name: in preparation def: "Publication in preparation before submitting to a journal." [] is_a: EFO:0001742 ! publication status property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001796 name: published def: "Publication published in a journal." [] is_a: EFO:0001742 ! publication status property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001799 name: ethnic group def: "A group of people with a common cultural heritage that sets them apart from others in a variety of social relationships. (MSH); A social group characterized by a distinctive social and cultural tradition maintained from generation to generation, a common history and origin and a sense of identification with the group; members of the group have distinctive features in their way of life, shared experiences and often a common genetic heritage; these features may be reflected in their experience of health and disease. (NCI); Ethnicity - an arbitrary classification of the social group a person belongs to, and either identifies with or is identified with by others, as a result of a complex of cultural, biological, geographical and other factors such as linguistic, dietary and religion traditions; ancestry, background, allegiance, or association; and physical characteristics traditionally associated with race. Increasingly the concept is used synonymously with race but this use trend has a pragmatic basis rather than scientific. (NCI); The concept of ethnic origin is an attempt to classify people, not according to their current ethnicity, but according to where their ancestors came from. Ethnic origin has become a popular classification in statistics, where the concept of race has been largely discarded. (from Wikipedia) (NCI); a group of people with a common cultural heritage that sets them apart from others in a variety of social relationships. (CSP)" [] def: "An ethnic group is a population whose members have a common heritage that is real or presumed such as common culture, language, religion, behaviour or biological trait." [] synonym: "Ethnicity" EXACT [] synonym: "race" EXACT [] xref: NCIt:C16564 xref: NIFSTD:birnlex_3016 xref: SNOMEDCT:364699009 xref: SNOMEDCT:372148003 is_a: OBI:0000181 ! population property_value: definition:citation http://en.wikipedia.org/wiki/Ethnic_group xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0001824 name: hormone role is_a: CHEBI:24432 ! biological role is_a: CHEBI:51086 ! chemical role relationship: characteristic_of CHEBI:24431 ! chemical entity property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001899 name: drug role is_a: CHEBI:51086 ! chemical role relationship: characteristic_of CHEBI:24431 ! chemical entity property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001901 name: aerial part def: "Existing or growing in the air rather than in the ground or in water." [] synonym: "aerial body" EXACT [] synonym: "aerial tissue" EXACT [] xref: BTO:0001658 is_a: EFO:0001647 ! tissue modifier property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001902 name: obsolete_articular cartilage def: "A thin layer of cartilage, usually hyaline, on the articular surface of bones in synovial joints." [] synonym: "hyaline cartilage" EXACT [] xref: BTO:0001572 xref: MeSH:D051457 xref: NCIt:C32144 xref: SNOMEDCT:39298000 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with UBERON_0010996" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string property_value: primary:source BTO:0001572 xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0010996 [Term] id: EFO:0001903 name: nervous system developmental tissue is_a: EFO:0000795 ! animal developmental tissue [Term] id: EFO:0001904 name: obsolete_basal plate property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0004064 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0004064 [Term] id: EFO:0001905 name: obsolete_blood plasma def: "Blood plasma is a yellow liquid component of blood, in which the blood cells in whole blood would normally be suspended." [] def: "The fluid portion of the blood in which the particulate components are suspended." [] synonym: "plasma" EXACT [] xref: BTO:0000131 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001969\nlabel: blood plasma" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string property_value: primary:source BTO:0000131 xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001969 [Term] id: EFO:0001906 name: obsolete_capillary def: "A capillary tube; especially: any of the smallest blood vessels connecting arterioles with venules and forming networks throughout the body." [] def: "Tiny blood vessels that connect the arterioles with the venules." [] xref: BTO:0002045 xref: NCIt:C12685 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001982\nlabel: capillary" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001982 [Term] id: EFO:0001907 name: dorsal skin def: "Dorsal skin is a skin found at the dorsal area of an animal." [] is_a: UBERON:0000014 ! zone of skin relationship: RO:0000086 EFO:0001656 ! has_quality dorsal property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001908 name: caudal def: "Caudal is a geometric modifier which indicates a position towards the tail." [] xref: NCIt:C73851 xref: SNOMEDCT:3583002 is_a: EFO:0001648 ! geometric modifier property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001909 name: obsolete_caudal fin def: "Fin that is the most posterior median fin. It is composed of a complex of three modified centra and modified neural and hemal arches and spines." [] synonym: "tail fin" EXACT [] xref: ZFA:0001058 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with UBERON_4000164" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_4000164 [Term] id: EFO:0001910 name: brain structure developmental tissue def: "A brain structure developmental tissue is a nervous system developmental tissue from which mature, fully developed brain structures will emerge during growth of an organism." [] is_a: EFO:0001903 ! nervous system developmental tissue property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001911 name: obsolete_caudal ganglionic eminence def: "A caudal ganglionic eminence is a transitory brain structure present in the embryonic and fetal stages of brain development and that is located towards the caudal end." [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0004026\nlabel: caudal ganglionic eminence" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0004026 [Term] id: EFO:0001912 name: obsolete_caudate putamen def: "A centrally-located portion of the brain affected by Huntington's Disease. The putamen is structurally similar to the caudate nucleus together with which it composes what is termed the striatum." [] xref: BTO:0000212 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0005383\nlabel: caudate putamen" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005383 [Term] id: EFO:0001913 name: obsolete_cervix epithelium xref: MA:0001724 xref: NCIt:C49218 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0004801 label: cervix epithelium" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0004801 [Term] id: EFO:0001914 name: obsolete_brain ventricle def: "A brain ventricle is a brain structure consisting of communicating cavities in the brain that are continuous with the central canal of the spinal cord." [] def: "Any of the system of communicating cavities in the brain that are continuous with the central canal of the spinal cord." [] xref: BTO:0001442 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0004086\nlabel: brain ventricle" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0004086 [Term] id: EFO:0001915 name: obsolete_choroid plexus def: "The choroid plexus is a brain structure located in the spaces inside the brain called ventricles. The choroid plexus makes the fluid that fills the ventricles and surrounds the brain and spinal cord." [] def: "The choroid plexus is tissue located in the spaces inside the brain called ventricles. The choroid plexus makes the fluid that fills the ventricles and surrounds the brain and spinal cord." [] xref: BTO:0000258 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001886\nlabel: choroid plexus" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001886 [Term] id: EFO:0001916 name: obsolete_conjunctival epithelium xref: NCIt:C32365 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with UBERON_0006763" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0006763 [Term] id: EFO:0001917 name: obsolete_corneal epithelium def: "Posterior epithelium of cornea: the mesothelial layer covering the posterior surface of the posterior limiting lamina of the cornea; it was once believed to extend to the anterior surface of the stroma of the iris." [] def: "Stratified squamous epithelium that covers the outer surface of the cornea. (MeSH)" [] synonym: "anterior endothelium of cornea" EXACT [] synonym: "corneal endothelium" EXACT [] synonym: "endothelium anterius corneae" EXACT [] synonym: "endothelium camerae anterioris bulbi" EXACT [] synonym: "endothelium corneale" EXACT [] synonym: "epithelium posterius corneae" EXACT [] xref: BTO:0000287 xref: NCIt:C12928 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001772\nlabel: corneal epithelium" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001772 [Term] id: EFO:0001918 name: obsolete_decidua basalis xref: NCIt:C32426 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000453\nlabel: decidua basalis" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000453 [Term] id: EFO:0001919 name: obsolete_dorsal raphe nucleus def: "A large raphe nucleus extending from the anterior part of the pons through the mesencephalon; its neurons are serotoninergic." [] synonym: "Dorsal raphe" EXACT [] synonym: "nucleus raphes dorsalis" EXACT [] synonym: "nucleus raphes posterior" EXACT [] synonym: "posterior raphe nucleus" EXACT [] xref: BTO:0002434 xref: NIFSTD:birnlex_982 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002043\nlabel: dorsal raphe nucleus" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002043 [Term] id: EFO:0001920 name: obsolete_entorhinal cortex synonym: "Area 28 of Brodmann (Crosby)" EXACT [] synonym: "Entorhinal area" EXACT [] synonym: "Secondary olfactory cortex" EXACT [] synonym: "Secondary olfactory cortical area (Carpenter)" EXACT [] xref: FMA:72356 xref: MeSH:D018728 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002728\nlabel: entorhinal area" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002728 [Term] id: EFO:0001921 name: obsolete_extraocular muscle def: "Any of six small voluntary muscles that pass between the eyeball and the orbit and control the movement of the eyeball in relation to the orbit." [] synonym: "extra-ocular muscle" EXACT [] synonym: "extrinsic muscle of eyeball" EXACT [] xref: BTO:0001579 xref: FMA:49033 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001601\nlabel: extra-ocular muscle" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001601 [Term] id: EFO:0001922 name: obsolete_female accessory gland property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00004914 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00004914 [Term] id: EFO:0001923 name: obsolete_floor of mouth property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.53" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0003679 label:mouth floor" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003679 [Term] id: EFO:0001924 name: obsolete_flower bud def: "A bud that will develop into a flower." [] xref: BTO:0000470 xref: NCIt:C79637 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with PO_0000056" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0000056 [Term] id: EFO:0001925 name: obsolete_gum def: "The soft tissue surrounding the neck of individual teeth as well as covering the alveolar bone. The tissue is fibrous and continuous with the periodontal ligament and mucosal covering." [] def: "The tissue that surrounds the necks of teeth and covers the alveolar parts of the jaws; broadly: the alveolar portion of a jaw with its enveloping soft tissues." [] synonym: "gingiva" EXACT [] synonym: "Gingival" EXACT [] synonym: "gums" EXACT [] xref: BTO:0000519 xref: FMA:59762 xref: NCIt:C32677 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0001828 label : gingiva" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001828 [Term] id: EFO:0001926 name: obsolete_gynoecium def: "The female reproductive organs of a flower; the pistil or pistils considered as a group." [] synonym: "GRO:000543" EXACT [] xref: BTO:0001733 xref: PO:0009062 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with PO_0009062" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0009062 [Term] id: EFO:0001927 name: obsolete_head capsule def: "The fused compact cephalic plates that comprise the head, excluding the eyes, antennae and mouthparts." [] xref: FBbt:00004482 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with UBERON_0003153" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003153 [Term] id: EFO:0001928 name: obsolete_hindlimb muscle xref: AAO:0000222 xref: MA:0000663 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0003663\nlabel: hindlimb muscle" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003663 [Term] id: EFO:0001929 name: obsolete_hip property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0001464 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001464 [Term] id: EFO:0001930 name: obsolete_hypoblast def: "The inner of the two layers of the blastoderm that forms during gastrulation and give rise to the definitive mesoderm and endoderm." [] def: "The inner of the two layers of the blastoderm that forms during gastrulation and give rise to the definitive mesoderm and endoderm. Kimmel et al, 1995." [] synonym: "mesendoderm" EXACT [] xref: NCIt:C34190 xref: TAO:0000117 xref: ZFA:0000117 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with UBERON_0000089" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000089 [Term] id: EFO:0001931 name: obsolete_hypocotyl def: "The part of the axis of a plant embryo or seedling below the cotyledon." [] synonym: "GRO:0005342" EXACT [] xref: BTO:0000613 xref: MeSH:D018546 xref: PO:0020100 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with PO_0020100" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0020100 [Term] id: EFO:0001932 name: obsolete_hypopharynx def: "The hypopharynx is part of the pharynx that lies below the upper edge of the epiglottis and opens into the larynx and esophagus." [] def: "The lower part of the pharynx that connects to the esophagus." [] def: "The portion of the pharynx that lies below the upper edge of the epiglottis and opens into the larynx and esophagus." [] comment: Obsolete - duplication use laryngopharynx EFO_0001388 instead xref: BTO:0001740 xref: NCIt:C12246 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.5" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0001933 name: obsolete_wing disc property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_6001778 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_6001778 [Term] id: EFO:0001934 name: obsolete_vomeronasal organ def: "The vomeronasal organ (VNO), or Jacobson's organ, is an auxiliary olfactory sense organ that is found in many animals. It was discovered by Ludwig Jacobson in 1813. During embryological development, it forms from the nasal (olfactory) placode, at the anterior edge of the neural plate. It is a chemoreceptor organ which is completely separated from the nasal cavity the majority of the time, being enclosed in a separate bony or cartilaginous capsule which opens into the base of the nasal cavity. It is a tubular crescent shape and split into two pairs, separated by the nasal septum. It is the first processing stage of the accessory olfactory system, after which chemical stimuli go to the accessory olfactory bulb, then to targets in the amygdala and hypothalamus. The vomeronasal organ is mainly used to detect pheromones, chemical messengers that carry information between individuals of the same species, hence is sometimes referred to as the 'sixth sense. ' The VNO has two separate types of neuronal receptors, V1R and V2R, which are seven-transmembrane receptors that are coupled to G proteins. The receptors are distinct from each other and form the large family of receptors in the main olfactory system. Evidence shows that the VNO responds to nonvolatile cues which stimulate the receptor neurons. Information is then transferred to the accessory olfactory bulb as well as other centres of the brain such as the anterior part of the hypothalamus. Its presence in many animals has been widely studied and the importance of the vomeronasal system to the role of reproduction and social behavior (through influence on anterior hypothalamus) has been shown in many studies. Its presence and functionality in humans is widely controversial, though most studies agree the organ regresses during fetal development. [WP,unvetted]." [] synonym: "Jacobson's organ" EXACT [] property_value: definition:citation http://purl.obolibrary.org/obo/UBERON_0002255 xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002255\nlabel: vomeronasal organ" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002255 [Term] id: EFO:0001935 name: obsolete_ventral tegmental area synonym: "ventral tegmental" EXACT [] synonym: "Ventral tegmental area of Tsai" EXACT [] synonym: "Ventral tegmental nucleus (Tsai)" EXACT [] synonym: "Ventral tegmental nucleus of Tsai" EXACT [] xref: FMA:72438 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002691\nlabel: ventral tegmental area" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002691 [Term] id: EFO:0001936 name: obsolete_ventral striatum xref: FMA:77614 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0005403\nlabel: ventral striatum" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005403 [Term] id: EFO:0001937 name: obsolete_vastus lateralis def: "The division of the quadriceps muscle that covers the outer anterior aspect of the femur, arises chiefly from the femur, and inserts into the outer border of the patella by a flat tendon which blends with that of the other divisions of the muscle and sends an expansion to the capsule of the knee." [] synonym: "vastus externus" EXACT [] xref: BTO:0001563 xref: NCIt:C53073 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001379\nlabel: vastus lateralis" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001379 [Term] id: EFO:0001938 name: obsolete_quadricep muscle def: "A group of four powerful muscles in the front of the thigh. Their actions involve the extension of the knee joint." [] def: "The greater extensor muscle of the front of the thigh that is divided into four parts: rectus femoris, vastus intermedius, vastus lateralis, and vastus medialis." [] synonym: "musculus quadriceps femoris" EXACT [] synonym: "quadriceps" EXACT [] synonym: "quadriceps muscle" EXACT [] synonym: "quadriceps muscle of the thigh" EXACT [] synonym: "quadriceps muscle of thigh" EXACT [] xref: BTO:0001149 xref: NCIt:C33441 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001377\nlabel: quadriceps femoris" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001377 [Term] id: EFO:0001939 name: obsolete_urine def: "Waste material that is secreted by the kidney in vertebrates, is rich in end products of protein metabolism together with salts and pigments, and forms a clear amber and usually slightly acid fluid in mammals but is semisolid in birds and reptiles." [] xref: BTO:0001419 xref: MO:399 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001088\nlabel: urine" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001088 [Term] id: EFO:0001940 name: obsolete_umbilical vein def: "A vein that passes through the umbilical cord to the fetus and returns the oxygenated and nutrient blood from the placenta to the fetus." [] xref: BTO:0001509 xref: NCIt:C33830 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002066\nlabel: umbilical vein" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002066 [Term] id: EFO:0001941 name: blood component xref: SNOMEDCT:261226001 is_a: UBERON:0002390 ! hematopoietic system relationship: part_of UBERON:0000178 ! blood [Term] id: EFO:0001942 name: obsolete_umbilical cord blood def: "Blood present in the umbilical vessels at the time of delivery. If cryopreserved at birth, cord blood can serve as a source of autologous lymphocytes for transplantation to a patient later diagnosed and treated for leukemia or lymphoma." [] synonym: "Cord Blood" EXACT [] xref: NCIt:C13300 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0012168\nlabel: umbilical cord blood" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0012168 [Term] id: EFO:0001943 name: obsolete_thigh property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0000376 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000376 [Term] id: EFO:0001944 name: obsolete_superior temporal gyrus xref: FMA:61905 xref: NCIt:C0152309 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002769\nlabel: superior temporal gyrus" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002769 [Term] id: EFO:0001945 name: obsolete_superior cervical ganglion def: "The uppermost ganglion on the sympathetic trunk, lying behind the internal carotid artery and in front of the second and third cervical vertebrae; it gives rise to postganglionic fibers to the heart via cervical cardiac nerves, to the pharyngeal plexus and thence to the larynx and pharynx, and to the head via the external and internal carotid plexuses." [] synonym: "ganglion cervicale superius" EXACT [] xref: BTO:0001325 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001989\nlabel: superior cervical ganglion" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001989 [Term] id: EFO:0001946 name: obsolete_soleus muscle def: "A broad flat muscle of the calf of the leg lying immediately below the gastrocnemius." [] synonym: "Muscle, Soleus" EXACT [] synonym: "soleus" EXACT [] xref: BTO:0001265 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001389\nlabel: soleus muscle" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001389 [Term] id: EFO:0001947 name: obsolete_shoot apex def: "The terminal bud (0.1 - 1.0 mm) of a plant, which consists of the apical meristem (0.05 - 0.1 mm) and the immediate surrounding leaf primordia and developing leaves and adjacent stem tissue." [] synonym: "GRO:0000370" EXACT [] synonym: "shoot tip" EXACT [] xref: BTO:0000247 xref: PO:0000037 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with PO_0000037" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0000037 [Term] id: EFO:0001948 name: shoot component def: "A shoot component is a plant component which is specifically part of a plant shoot." [] is_a: PO:0025131 ! plant anatomical entity relationship: part_of EFO:0000992 ! shoot [Term] id: EFO:0001949 name: obsolete_muscle def: "A body tissue consisting of long cells that contract when stimulated and produce motion." [] xref: BTO:0000887 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0001015 label : musculature" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001015 [Term] id: EFO:0001950 name: obsolete_midgut def: "The middle part of an alimentary canal." [] def: "The part of the alimentary canal derived from the endoderm." [] def: "The part of the alimentary canal extending anteriorly from the proventriculus to close to the point where the Malpighian tubes are attached. It is predominantly derived from the endoderm." [] xref: BTO:0000863 xref: FBbt:00005383 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001045\nlabel: midgut" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001045 [Term] id: EFO:0001951 name: obsolete_inferior parietal lobule property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0006088 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0006088 [Term] id: EFO:0001952 name: obsolete_internal carotid artery synonym: "carotid artery, internal" EXACT [] xref: FMA:3947 xref: NCIt:C32836 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001532\nlabel: internal carotid artery" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001532 [Term] id: EFO:0001953 name: obsolete_external carotid artery xref: FMA:10635 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001532\nlabel: external carotid artery" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001532 [Term] id: EFO:0001954 name: division of carotid artery synonym: "Common carotid arterial subdivision" EXACT [] synonym: "Subdivision of common carotid artery" EXACT [] xref: FMA:70504 is_a: UBERON:0001637 ! artery relationship: part_of UBERON:0005396 ! carotid artery segment property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001955 name: heart component def: "A heart component is an animal component that is part of some heart." [] is_a: UBERON:0004535 ! cardiovascular system relationship: part_of UBERON:0000948 ! heart property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001956 name: obsolete_interventricular septum def: "Cardiac septum which separates the right ventricle from the left ventricle." [] def: "The partition that separates the left ventricle from the right ventricle, consisting of a muscular and a membranous part." [] synonym: "interventricular septum of heart" EXACT [] synonym: "interventriculare cordis" EXACT [] synonym: "ventricular septum" EXACT [] xref: BTO:0002483 xref: FMA:7133 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002094\nlabel: interventricular septum" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002094 [Term] id: EFO:0001957 name: obsolete_knee joint synonym: "knee" EXACT [] xref: FMA:35175 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001485\nlabel: knee joint" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001485 [Term] id: EFO:0001958 name: joint component xref: SNOMEDCT:260782005 is_a: EFO:0003858 ! skeleton structure relationship: part_of UBERON:0000982 ! skeletal joint relationship: part_of UBERON:0001434 ! skeletal system property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001960 name: obsolete_lateral root xref: PO:0020121 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with PO_0020121" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0020121 [Term] id: EFO:0001961 name: obsolete_lateral ventricle def: "An internal cavity in each cerebral hemisphere that consists of a central body and three cornua including an anterior one curving forward and outward, a posterior one curving backward, and an inferior one curving downward." [] def: "Part of the ventricular system of the brain in each of the cerebral hemispheres. The lateral ventricle in each hemisphere is separated from the other by the septum and each communicates with the THIRD VENTRICLE by the foramen of Monro, In species, particularly those with well developed cortex, the lateral ventrical may be subdivided into anterior, posterior and temporal horns and a body" [] def: "The rostral extensions of the ventricular system of the brain consisting of two cavities, one on each side of the brain within the central regions of each cerebral hemisphere. Cerebrospinal fluid flows from the lateral ventricles into the centrally third ventricle via the foramen of Monroe." [] synonym: "lateral ventricle of brain" EXACT [] synonym: "Lateral Ventricles" EXACT [] synonym: "Ventricle, Lateral" EXACT [] synonym: "Ventricles, Lateral" EXACT [] xref: BTO:0000879 xref: MeSH:D020547 xref: NCIt:C12834 xref: NIFSTD:birnlex_1263 property_value: definition:citation "C12834" xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with UBERON_0002285" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002285 [Term] id: EFO:0001962 name: obsolete_brain stem def: "The part of the brain composed of the mesencephalon, pons, and medulla oblongata and connecting the spinal cord with the forebrain and cerebrum." [] synonym: "Brainstem" EXACT [] synonym: "truncus encephalicus" EXACT [] xref: BTO:0000146 xref: NIFSTD:birnlex_1565 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002298\nlabel: brainstem" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002298 [Term] id: EFO:0001963 name: obsolete_locus coeruleus synonym: "locus caeruleus" EXACT [] synonym: "locus ceruleus" EXACT [] synonym: "locus cinereus" EXACT [] xref: BTO:0001408 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002148\nlabel: locus ceruleus" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002148 [Term] id: EFO:0001964 name: obsolete_male accessory gland synonym: "paragonium" EXACT [] xref: FBbt:00004959 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with UBERON_0010147" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0010147 [Term] id: EFO:0001965 name: obsolete_mandible def: "1: The lower jaw of a vertebrate animal.n2: Either the upper or lower part of the beak in birds." [] synonym: "inferior maxillary bone" EXACT [] synonym: "lower jaw bone" EXACT [] synonym: "mandibula" EXACT [] xref: BTO:0001748 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001684\nlabel: mandible" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001684 [Term] id: EFO:0001966 name: obsolete_ligament xref: FMA:30319 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000211\nlabel: ligament" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000211 [Term] id: EFO:0001967 name: medial collateral ligament synonym: "Medial Collateral Ligament of the Knee" EXACT [] xref: NCIt:C33064 is_a: EFO:0001958 ! joint component is_a: UBERON:0000211 ! ligament relationship: part_of UBERON:0001485 ! knee joint property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001968 name: obsolete_medial geniculate nucleus synonym: "Medial geniculate body" EXACT [] synonym: "Medial geniculate complex" EXACT [] synonym: "Medial geniculate nuclei" EXACT [] synonym: "MGN" EXACT [] xref: FMA:62211 xref: MA:0000870 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001927\nlabel: medial geniculate body" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001927 [Term] id: EFO:0001969 name: obsolete_medulla of thymus synonym: "Thymus medulla" EXACT [] xref: FMA:72206 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002124\nlabel: medulla of thymus" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002124 [Term] id: EFO:0001970 name: obsolete_myometrium def: "The smooth muscle coat of the uterus, which forms the main mass of the organ." [] def: "The smooth muscle lining the uterus." [] synonym: "uterine smooth muscle" EXACT [] xref: BTO:0000907 xref: NCIt:C12314 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001296\nlabel: myometrium" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001296 [Term] id: EFO:0001971 name: obsolete_nucleus of terminal stria synonym: "Bed nucleus of stria terminalis" EXACT [] synonym: "Intercalate nucleus of stria terminalis" EXACT [] synonym: "Nuclei of stria terminalis" EXACT [] synonym: "Nucleus of stria terminalis" EXACT [] synonym: "Stria terminalis nucleus" EXACT [] xref: FMA:61884 xref: MA:0000925 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0001880 label : bed nucleus of stria terminalis" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001880 [Term] id: EFO:0001972 name: obsolete_olfactory epithelium def: "An epithelium located in the roof, superior conchae, and septum of the nasal cavity. It is formed by ciliated olfactory receptor cells, supporting cells and basal cells. Olfactory glands in the epithelium produce and secrete mucus which forms a layer over the epithelium. The cilia of the receptor cells protrude into the mucous layer where molecular reception with odors occurs and sensory transduction begins." [] def: "Pseudostratified epithelium lining the olfactory region of the nasal cavity, and containing the receptors for the sense of smell." [] synonym: "nasal cavity olfactory epithelium" EXACT [] synonym: "nasal epithelium" EXACT [] synonym: "olfactory mucosa" EXACT [] synonym: "olfactory sensory epithelium" EXACT [] synonym: "Sensory olfactory epithelium" EXACT [] xref: BTO:0000108 xref: FMA:64803 xref: NCIt:C33203 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001997\nlabel: olfactory epithelium" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001997 [Term] id: EFO:0001973 name: obsolete_olfactory system synonym: "chemosensory sensory organ" EXACT [] xref: FMA:7190 xref: MA:0002445 xref: TAO:0001149 xref: XAO:0003196 xref: ZFA:0001149 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0005725\nlabel: olfactory system" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005725 [Term] id: EFO:0001974 name: obsolete_optic disc def: "A portion of the retina at which the axons of the ganglion cells exit the eyeball to form the optic nerve. No light-sensitive photoreceptors are contained within this portion of the retina." [] synonym: "Optic Disk" EXACT [] synonym: "Optic Nerve Head" EXACT [] synonym: "Optic Papilla" EXACT [] xref: FMA:58634 xref: MeSH:D009898 xref: NCIt:C12760 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001783\nlabel: optic disc" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001783 [Term] id: EFO:0001975 name: obsolete_oral cavity def: "The cavity located at the upper end of the alimentary canal, behind the teeth and gums that is bounded on the outside by the lips, above by the hard and soft palates and below by the tongue." [] xref: FMA:20292 xref: NCIt:C12421 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.8" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Synonym with mouth, use mouth instead see: EFO_0000825" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000825 [Term] id: EFO:0001976 name: obsolete_oropharynx def: "The part of the pharynx between the soft palate and the upper portion of the epiglottis." [] synonym: "Oral part of pharynx" EXACT [] xref: FMA:54879 xref: NCIt:C12762 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001729\nlabel: oropharynx" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001729 [Term] id: EFO:0001977 name: obsolete_palatine tonsil synonym: "Faucial tonsil" EXACT [] xref: FMA:9610 xref: NCIt:C33250 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002373\nlabel: palatine tonsil" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002373 [Term] id: EFO:0001978 name: obsolete_perirhinal cortex xref: MA:0000912 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0006083\nlabel: Perirhinal cortex" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0006083 [Term] id: EFO:0001979 name: obsolete_plantaris muscle synonym: "plantaris" EXACT [] xref: FMA:22543 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0011905\nlabel: plantaris" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0011905 [Term] id: EFO:0001980 name: obsolete_pleura def: "The delicate serous membrane that lines each half of the thorax of mammals and is folded back over the surface of the lung of the same side." [] def: "The tissue that lines the wall of the thoracic cavity and the surface of the lungs." [] synonym: "Pleural Tissue" EXACT [] xref: BTO:0001791 xref: NCIt:C12469 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000977\nlabel: pleura" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000977 [Term] id: EFO:0001981 name: obsolete_mesoderm xref: FMA:69072 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000926\nlabel: mesoderm" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000926 [Term] id: EFO:0001982 name: obsolete_presomitic mesoderm def: "Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form." [] def: "Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form. Kimmel et al, 1995." [] synonym: "PSM" EXACT [] synonym: "segmental plate" EXACT [] xref: TAO:0000279 xref: XAO:0000057 xref: ZFA:0000279 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0003059\nlabel: presomitic mesoderm" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003059 [Term] id: EFO:0001983 name: leaf component def: "A leaf component is a plant component which is part of a leaf." [] is_a: EFO:0001948 ! shoot component relationship: part_of PO:0025034 ! leaf property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001984 name: obsolete_rosette leaf xref: BTO:0001201 xref: PO:0000014 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with PO_0000014" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0000014 [Term] id: EFO:0001985 name: obsolete_pulmonary alveolus property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0002299 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002299 [Term] id: EFO:0001986 name: lung structure def: "A lung structuret is a respiratory system component which is part of a lung." [] xref: SNOMEDCT:39607008 is_a: UBERON:0001004 ! respiratory system relationship: part_of UBERON:0002048 ! lung property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0001987 name: obsolete_cerebral peduncle synonym: "Peduncle of midbrain" EXACT [] xref: FMA:62394 xref: NIFSTD:birnlex_1202 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002623\nlabel: cerebral peduncle" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002623 [Term] id: EFO:0001988 name: obsolete_lateral geniculate nucleus synonym: "Lateral geniculate body" EXACT [] synonym: "Lateral geniculate complex" EXACT [] xref: FMA:62209 xref: MA:0000869 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001926\nlabel: ateral geniculate body" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001926 [Term] id: EFO:0001990 name: obsolete_orbitofrontal cortex synonym: "Segment of cortex of frontal lobe" EXACT [] xref: FMA:242003 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0004167\nlabel: orbitofrontal cortex" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0004167 [Term] id: EFO:0001991 name: obsolete_superior frontal gyrus synonym: "Marginal gyrus" EXACT [] synonym: "Superior frontal convolution" EXACT [] xref: FMA:61857 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002661\nlabel: superior frontal gyrus" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002661 [Term] id: EFO:0001992 name: obsolete_seedling def: "The embryonic product of the germination of a seed; the young shoot and root axis." [] xref: BTO:0001228 xref: PO:0008037 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.58" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with PO term" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0007131 [Term] id: EFO:0002009 name: fibroblast derived cell line is_a: CL:0000010 ! cultured cell [Term] id: EFO:0002012 name: organization role def: "An organization role is a role which is borne by an organization." [] xref: NCIt:C114551 is_a: BFO:0000023 ! role relationship: characteristic_of OBI:0000245 ! organization property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002028 name: microarray wash station def: "A microarray wash station is an instrument used to wash or stain microarrays." [] synonym: "wash_station" EXACT [] xref: MO:626 is_a: EFO:0000548 ! instrument property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002029 name: software xref: MeSH:D012984 xref: MO:109 xref: SNOMEDCT:706687001 is_a: IAO:0000030 ! information entity property_value: definition:citation "IAO_0000010" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002032 name: Ara-C-resistant murine leukemia def: "An Ara-C-resistant murine leukemia is a cell line.\nA b117h, and a b140h are kinds of Ara-C-resistant murine leukemias." [] is_a: EFO:0002887 ! mouse cell line property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string [Term] id: EFO:0002033 name: Ara-C-sensitive parental cell line is_a: EFO:0002887 ! mouse cell line [Term] id: EFO:0002034 name: G1E def: "A GATA-1-null erythroblast is a cell line.\nA g1e er4 is a GATA-1-null erythroblast." [] synonym: "GATA-1-null erythroblast cell line" EXACT [] xref: PMID:12832487 is_a: EFO:0002886 ! stem cell derived cell line is_a: EFO:0002887 ! mouse cell line relationship: RO:0001000 UBERON:0000922 ! derives_from embryo property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string [Term] id: EFO:0002035 name: murine neuroblastoma cholinergic cell line is_a: EFO:0002887 ! mouse cell line [Term] id: EFO:0002037 name: 4T1 is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002887 ! mouse cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002038 name: 66cl4 is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002887 ! mouse cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002039 name: 67NR is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002887 ! mouse cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002040 name: B117H def: "A b117h is an ara c resistant murine leukemia." [] is_a: EFO:0002032 ! Ara-C-resistant murine leukemia is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000565 ! leukemia property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string [Term] id: EFO:0002041 name: B117P is_a: EFO:0002033 ! Ara-C-sensitive parental cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000565 ! leukemia property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002042 name: B140H def: "AB140H is an Ara-C-resistant murine leukemia." [] is_a: EFO:0002032 ! Ara-C-resistant murine leukemia is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000565 ! leukemia property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string [Term] id: EFO:0002043 name: B140P is_a: EFO:0002033 ! Ara-C-sensitive parental cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000565 ! leukemia property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002044 name: BC-1 synonym: "BC1" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0001642 ! lymphoid neoplasm property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002045 name: BC-2 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000574 ! lymphoma relationship: has_characteristic EFO:0001642 ! lymphoid neoplasm property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002046 name: BC-3 is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0001642 ! lymphoid neoplasm property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002047 name: BC-5 is_a: EFO:0002887 ! mouse cell line property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002048 name: BCBL-1 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000574 ! lymphoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002049 name: BCKN-1 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000574 ! lymphoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002050 name: BeWo is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002893 ! choriocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002051 name: D4 glioblastoma derived primary cell line synonym: "D4" EXACT [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000519 ! glioblastoma multiforme property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002052 name: EcR-RKO/KLF4 is_a: BTO:0001616 ! colorectal cancer cell line is_a: BTO:0003250 ! colonic epithelium cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma relationship: RO:0001000 EFO:0001232 ! derives_from RKO property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002053 name: F9 mouse embryonal carcinoma cell line comment: Mouse cell line synonym: "F9" EXACT [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002887 ! mouse cell line relationship: has_characteristic EFO:0000313 ! carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002054 name: Fu97 is_a: EFO:0001639 ! cancer cell line relationship: has_characteristic EFO:0000178 ! gastric carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002055 name: G1E-ER4 def: "A g1e er4 is a GATA-1-null erythroblast." [] xref: PMID:12832487 is_a: EFO:0002034 ! G1E relationship: RO:0001000 UBERON:0000922 ! derives_from embryo property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string [Term] id: EFO:0002056 name: HaCaT xref: BTO:0000552 xref: RRID:CVCL_0038 is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002057 name: HCC1008 synonym: "HCC-1008" EXACT [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005215 ! breast adenocarcinoma cell line relationship: has_characteristic EFO:0006318 ! breast ductal adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002058 name: obsolete_HL60 def: "Human acute myeloid leukemia established from the peripheral blood of a 35-year-old woman with acute myeloid leukemia (AML FAB M2) in 1976." [] xref: BTO:0000738 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.1" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate with EFO_0002793" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0002793 [Term] id: EFO:0002059 name: HT1080 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002087 ! fibrosarcoma property_value: definition:citation https://www.atcc.org/Products/All/CCL-121.aspx xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002060 name: IBL4 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000574 ! lymphoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002061 name: ITM is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002062 name: ITM-E6E7 is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002063 name: ITM-E6E7-ST is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002064 name: ITM-ST is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002065 name: ITV is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0001000 EFO:0001196 ! derives_from IMR-90 property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002066 name: JEG3 xref: BTO:0002269 xref: CLO:0007017 xref: RRID:CVCL_0363 is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002893 ! choriocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002067 name: K562 def: "Human chronic myeloid leukemia in blast crisis established from the pleural effusion of a 53-year-old woman with chronic myeloid leukemia (CML) in blast crisis in 1970; cells can be used as highly sensitive targets in in-vitro natural killer assays; cells produce hemoglobin; cells carry the Philadelphia chromosome with a b3-a2 fusion gene." [] synonym: "K-562" EXACT [] synonym: "K-562 cell" EXACT [] synonym: "K562 cell" EXACT [] xref: BTO:0000664 xref: NCIt:C19437 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0005294 ! chronic myelogenous leukemia cell line relationship: has_characteristic EFO:0000339 ! chronic myelogenous leukemia relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping property_value: definition:citation https://www.sigmaaldrich.com/catalog/product/sigma/cb_89121407?lang=en®ion=US&gclid=EAIaIQobChMIjriUsZWq3wIVEh6tBh01pwF_EAAYASAAEgLhBPD_BwE xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002068 name: Kc def: "A Kc is a cell line.\nA Kc derives from a drosophila melanogaster." [] is_a: EFO:0002935 ! Drosophila melanogaster cell line property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string [Term] id: EFO:0002069 name: KELLY def: "A cell line derived from human neuroblastoma." [] def: "Human Neuroblastoma cell line with ampification of N-MYC" [] synonym: "NB-19" EXACT [] synonym: "NB19-RIKEN" EXACT [] xref: CLO:0007091 xref: RRID:CVCL_2092 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005214 ! neuroblastoma cell line relationship: has_characteristic EFO:0000621 ! neuroblastoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string [Term] id: EFO:0002070 name: LbetaT2 def: "A cell line derived from murine pituitary gland." [] xref: MCC:0000292 is_a: EFO:0002887 ! mouse cell line property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string [Term] id: EFO:0002071 name: LNCAP def: "Human prostate carcinoma, established from the left supraclavicular lymph node metastasis from a 50-year-old man with prostate carcinoma in 1977; cells were described to be androgen-sensitive." [] synonym: "LNCAP cell" EXACT [] xref: BTO:0001321 xref: MCC:0000290 is_a: BTO:0001033 ! prostate cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002891 ! prostate derived cell line is_a: EFO:0002926 ! ENCODE cell line relationship: has_characteristic EFO:0001663 ! prostate carcinoma relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002072 name: MCF-7aro is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002073 name: mIMCD-3 synonym: "mIMCD3" EXACT [] xref: MCC:0000500 is_a: EFO:0002887 ! mouse cell line property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002074 name: PC-3 def: "Human prostate carcinoma cell line; established from the bone marrow metastasis isolated post-mortem from a 62-year-old Caucasian man with grade IV prostate cancer, poorly differentiated adenocarcinoma, after androgen suppression therapy; described to form tumors in nude mice, to grow in soft agar, and to be unresponsive to androgen treatment." [] synonym: "PC-3 cell" EXACT [] synonym: "PC3" EXACT [] synonym: "PC3 cell" EXACT [] xref: BTO:0001061 xref: CLO:0008395 xref: https://www.atcc.org/products/all/CRL-1435.aspx xref: MCC:0000380 xref: NCIt:C117219 xref: RRID:CVCL_0035 xref: SNOMEDCT:272976006 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002891 ! prostate derived cell line relationship: RO:0001000 EFO:0000673 ! derives_from prostate adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002075 name: PEL-5 def: "PEL-5 is a human primary effusion lymphoma cell line" [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000574 ! lymphoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002076 name: R1 def: "R1 is a mouse embryonic stem cell line." [] is_a: EFO:0002887 ! mouse cell line is_a: EFO:0003040 ! embryonic cell line is_a: EFO:0005738 ! ESC derived cell line property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002077 name: Ramos def: "Ramos cell line is an EBV-negative, HLA class 1 positive B-lymphoblastoid cell line derived from a Burkitt lymphoma" [] synonym: " Ramos 1" EXACT [] synonym: "RA 1" EXACT [] synonym: "Ramos-RA1" EXACT [] xref: BTO:0003079 xref: CLO:0008738 xref: RRID:CVCL_0597 is_a: BTO:0000164 ! Burkitt lymphoma cell is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005292 ! lymphoblastoid cell line relationship: has_characteristic EFO:0000309 ! Burkitts lymphoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002078 name: S1 xref: NCIt:C111070 is_a: EFO:0002935 ! Drosophila melanogaster cell line is_a: EFO:0003040 ! embryonic cell line property_value: definition:citation https://dgrc.bio.indiana.edu/product/View?product=9 xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002079 name: SK-MEL-2 xref: BTO:0003476 xref: CLO:0009041 xref: NCIt:C117188 xref: RRID:CVCL_0069 is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002080 name: obsolete_SKMEL5 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.65" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use EFO_0005720 label : SK-MEL-5" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0005720 [Term] id: EFO:0002081 name: SN56.B5.G4 is_a: EFO:0002035 ! murine neuroblastoma cholinergic cell line is_a: EFO:0005214 ! neuroblastoma cell line relationship: has_characteristic EFO:0000621 ! neuroblastoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002082 name: obsolete_ssMCF7 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.65" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use EFO:0001203 label : MCF-7" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0001203 [Term] id: EFO:0002083 name: SW480 synonym: "SW480E" EXACT [] xref: BTO:0000038 xref: CLO:0009218 xref: RRID:CVCL_0546 is_a: BTO:0001616 ! colorectal cancer cell line is_a: BTO:0003250 ! colonic epithelium cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma property_value: definition:citation https://www.atcc.org/Products/All/CCL-228.aspx xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002084 name: T84 xref: BTO:0002032 xref: CLO:0009254 xref: RRID:CVCL_0555 is_a: BTO:0001616 ! colorectal cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002085 name: T98G def: "Human, Caucasian, glioblastoma cell line." [] synonym: "T-98G cell" EXACT [] synonym: "T98G cell" EXACT [] xref: BTO:0001583 xref: CLO:0009258 xref: MCC:0000457 xref: RRID:CVCL_0556 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000519 ! glioblastoma multiforme property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002086 name: TIVE def: "TIVE is a human cell line." [] is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002087 name: fibrosarcoma def: "A malignant mesenchymal fibroblastic neoplasm affecting the soft tissue and bone." [NCIT:C3043] subset: gard_rare subset: ordo_disease {source="Orphanet:2030"} synonym: "fibrocytic tumor" BROAD [DOID:3355, NCIT:C7075] synonym: "fibrocytic tumor" EXACT [DOID:3355, NCIT:C7075] synonym: "fibrocytic tumour" BROAD OMO:0003005 [] synonym: "fibrosarcoma" EXACT [MONDO:ambiguous, NCIT:C3043] synonym: "fibrosarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "fibrosarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "fibrosarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "fibrosarcoma (excluding infantile fibrosarcoma)" EXACT [NCIT:C3043] synonym: "fibrosarcoma - not infantile" EXACT [NCIT:C3043] synonym: "fibrosarcoma of soft tissue" EXACT [DOID:3355] synonym: "fibrosarcoma, malignant" EXACT [NCIT:C3043] synonym: "fibrous tissue neoplasm" EXACT [DOID:3355] synonym: "malignant fibromatous neoplasm" EXACT [NCIT:C3043] xref: DOID:3355 {source="EFO:0002087", source="MONDO:equivalentTo"} xref: EFO:0002087 {source="MONDO:equivalentTo"} xref: GARD:0002327 {source="MONDO:equivalentTo"} xref: HP:0100244 {source="MONDO:otherHierarchy"} xref: ICD10:C49.9 {source="Orphanet:2030", source="ORDO:2030/ntbt"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8810/3 {source="NCIT:C3043"} xref: MedDRA:10016632 {source="Orphanet:2030", source="ORDO:2030/e"} xref: MedDRA:10016632 {source="Orphanet:2030/e", source="Orphanet:2030"} xref: MESH:D005354 {source="https://orcid.org/0000-0003-1967-3726", source="EFO:0002087", source="DOID:3355", source="Orphanet:2030/e", source="MONDO:equivalentTo", source="Orphanet:2030"} xref: MONDO:0005164 xref: NCIT:C3043 {source="EFO:0002087", source="DOID:3355", source="MONDO:equivalentTo"} xref: ONCOTREE:FIBS {source="MONDO:equivalentTo"} xref: Orphanet:2030 {source="MONDO:equivalentTo"} xref: SCTID:443250000 {source="DOID:3355", source="MONDO:equivalentTo"} xref: UMLS:C0016057 {source="DOID:3355", source="Orphanet:2030/e", source="NCIT:C3043", source="GARD:0002327", source="MONDO:equivalentTo", source="Orphanet:2030"} xref: UMLS:C0016057 {source="DOID:3355", source="NCIT:C3043", source="GARD:0002327", source="MONDO:equivalentTo", source="Orphanet:2030", source="ORDO:2030/e"} is_a: EFO:1000255 {source="NCIT:C3043"} ! Fibroblastic Neoplasm is_a: EFO:1001968 {source="Orphanet:2030"} ! soft tissue sarcoma property_value: closeMatch http://identifiers.org/meddra/10016632 property_value: closeMatch http://identifiers.org/mesh/D018218 property_value: closeMatch http://identifiers.org/snomedct/53654007 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0206643 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1336021 property_value: closeMatch NCIT:C6605 property_value: exactMatch DOID:3355 property_value: exactMatch DOID:3355 property_value: exactMatch http://identifiers.org/meddra/10016632 property_value: exactMatch http://identifiers.org/mesh/D005354 property_value: exactMatch http://identifiers.org/mesh/D005354 property_value: exactMatch http://identifiers.org/snomedct/443250000 property_value: exactMatch http://identifiers.org/snomedct/443250000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016057 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016057 property_value: exactMatch NCIT:C3043 property_value: exactMatch NCIT:C3043 property_value: exactMatch Orphanet:2030 property_value: excluded_subClassOf MONDO:0021054 {source="Orphanet:2030"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000589 "fibrosarcoma (disease)" xsd:string [Term] id: EFO:0002090 name: technical replicate def: "A technical replicate is a replicate role where the same BioSample is use e.g. the same pool of RNA used to assess technical (as opposed to biological) variation within an experiment." [] synonym: "technical_replicate" EXACT [] xref: MO:641 is_a: EFO:0000683 ! replicate property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002091 name: biological replicate def: "A biological replicate is a replicate role that consists of independent biological replicates made from different individual biosamples." [] synonym: "biological_replicate" EXACT [] xref: MO:952 is_a: EFO:0000683 ! replicate property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002092 name: dye swap replicate def: "A dye swap replicate is a replicate role which is borne by one of a pair of replicate assays in which LabeledExtracts derived from the same BioMaterial used for both assays (e.g., a hybridization or a 2-D gel run) differ only in that the dyes used for labeling have been reversed, e.g., assay 1: A-Cy3 vs. B-Cy5, and assay 2: A-Cy5 vs. B-Cy3. The purpose of using dye-swap replicate pairs is to assess or remove dye-specific biases from the combined experimental results." [] synonym: "dye_swap_replicate" EXACT [] xref: MO:901 is_a: EFO:0000683 ! replicate property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002094 name: 1A2 is_a: BTO:0000164 ! Burkitt lymphoma cell is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000309 ! Burkitts lymphoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002095 name: 22Rv1 def: "A cell line derived from human prostate carcinoma." [] synonym: "CWR-22rv1" EXACT [] synonym: "CWR22-R1" EXACT [] synonym: "CWR22-Rv1" EXACT [] synonym: "CWR22R" EXACT [] synonym: "CWR22R-V1" EXACT [] synonym: "CWR22Rv1" EXACT [] xref: CLO:0001200 xref: BTO:0002999 xref: CLO:0001199 xref: CLO:0001200 xref: RRID:CVCL_1045 is_a: BTO:0001033 ! prostate cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002891 ! prostate derived cell line relationship: has_characteristic EFO:0001663 ! prostate carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string [Term] id: EFO:0002096 name: 5637 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic MONDO:0004986 ! urinary bladder carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002097 name: 639V is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic MONDO:0004986 ! urinary bladder carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002098 name: 647V is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic MONDO:0004986 ! urinary bladder carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002099 name: 769P is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001643 ! kidney derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002890 ! renal carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002100 name: A101D def: "A cell line derived from human skin melanoma." [] is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string [Term] id: EFO:0002101 name: A172 synonym: " A-172 MG" EXACT [] synonym: "A-172MG" EXACT [] xref: BTO:0000016 xref: CLO:0001560 xref: CLO:0050637 xref: RRID:CVCL_0131 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000519 ! glioblastoma multiforme property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002102 name: A204 xref: BTO:0003767 xref: CLO:0001565 xref: RRID:CVCL_1058 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002919 ! uterine carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002103 name: A375 xref: BTO:0002806 xref: CLO:0001582 xref: RRID:CVCL_0132 is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002104 name: A427 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0001071 ! lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002105 name: A498 xref: CLO:0009974 xref: NCIt:C117212 xref: RRID:CVCL_1056 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001643 ! kidney derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002890 ! renal carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002106 name: A673 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002918 ! rhabdomyosarcoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002107 name: A7 xref: CLO:0001608 xref: RRID:CVCL_3486 is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002108 name: ACHN xref: NCIt:C117213 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001643 ! kidney derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002890 ! renal carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002109 name: AGS is_a: EFO:0001639 ! cancer cell line relationship: has_characteristic EFO:0000178 ! gastric carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002110 name: AN3CA is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002919 ! uterine carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002111 name: ARH77 def: "A cell line derived from a lymphatic system plasma cell neoplasm." [] is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000200 ! plasma cell neoplasm property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string [Term] id: EFO:0002112 name: AsPC1 def: "Human caucasian pancreas adenocarcinoma cell line" [] xref: CLO:0001756 xref: RRID:CVCL_0152 is_a: EFO:0001639 ! cancer cell line relationship: has_characteristic EFO:0002618 ! pancreatic carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0002113 name: BDCM def: "A cell line derived from human acute myeloid leukemia." [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000222 ! acute myeloid leukemia property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string [Term] id: EFO:0002114 name: obsolete_BE2C property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.65" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use : EFO_0005725 label : BE(2)-C" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0005725 [Term] id: EFO:0002115 name: BFTC905 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic MONDO:0004986 ! urinary bladder carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002116 name: BHT101 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002892 ! thyroid carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002117 name: BM1604 def: "A cell line derived from human prostate carcinoma." [] is_a: BTO:0001033 ! prostate cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002891 ! prostate derived cell line relationship: has_characteristic EFO:0001663 ! prostate carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string [Term] id: EFO:0002118 name: BV173 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005294 ! chronic myelogenous leukemia cell line relationship: has_characteristic EFO:0000339 ! chronic myelogenous leukemia property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002119 name: C32TG is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002894 ! amelanotic skin melanoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002120 name: C33A xref: BTO:0001968 xref: CLO:0002115 xref: RRID:CVCL_1094 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005218 ! cervical carcinoma cell line relationship: has_characteristic EFO:0001061 ! cervical carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002121 name: C3A is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005216 ! hepatoma cell line relationship: has_characteristic EFO:0000182 ! hepatocellular carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002122 name: C4I is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005218 ! cervical carcinoma cell line relationship: has_characteristic EFO:0001061 ! cervical carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002123 name: C4II is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005218 ! cervical carcinoma cell line relationship: has_characteristic EFO:0001061 ! cervical carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002124 name: CA46 is_a: BTO:0000164 ! Burkitt lymphoma cell is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000309 ! Burkitts lymphoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002125 name: CAL54 synonym: "CAL-54" EXACT [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001643 ! kidney derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002890 ! renal carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002126 name: CAL62 synonym: "CAL-62" EXACT [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002892 ! thyroid carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002127 name: CCFSTTG1 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000519 ! glioblastoma multiforme property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002128 name: CCRFCEM synonym: "CCRF-CEM/S" EXACT [] synonym: "CCRF/CEM/0" EXACT [] synonym: "CEM-0" EXACT [] synonym: "CEM-CCRF (CAMR)" EXACT [] synonym: "CEM/0" EXACT [] synonym: "GM03671" EXACT [] synonym: "GM03671C" EXACT [] xref: BTO:0000736 xref: CLO:0002334 xref: RRID:CVCL_0207 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000209 ! T-cell acute lymphoblastic leukemia property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002129 name: obsolete_CEMC1 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.22" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplication with class http://www.ebi.ac.uk/efo/EFO_0001667 label CEM/C1 which should be used instead" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0001667 [Term] id: EFO:0002130 name: CESS is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000222 ! acute myeloid leukemia property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002131 name: CGTHW1 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002892 ! thyroid carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002132 name: CHL1 is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002133 name: CHP212 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005214 ! neuroblastoma cell line relationship: has_characteristic EFO:0000621 ! neuroblastoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002134 name: CMLT1 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005294 ! chronic myelogenous leukemia cell line relationship: has_characteristic EFO:0000339 ! chronic myelogenous leukemia property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002135 name: COLO201 is_a: BTO:0001616 ! colorectal cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002136 name: COLO320DM is_a: BTO:0001616 ! colorectal cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002137 name: COLO320HSR is_a: BTO:0001616 ! colorectal cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002138 name: COLO668 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0001071 ! lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002139 name: COLO704 synonym: "COLO-704" EXACT [] is_a: EFO:0002394 ! ovarian cancer cell lines is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0001075 ! ovarian carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002140 name: COLO829 synonym: "COLO-829" EXACT [] is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002141 name: CORL105 synonym: "CORL-105" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0001071 ! lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002142 name: CORL23 synonym: "CORL-23" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0001000 EFO:0001071 ! derives_from lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002143 name: CORL279 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0001071 ! lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002144 name: CORL88 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0001071 ! lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002145 name: CROAP2 synonym: "CROAP-2" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000574 ! lymphoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002146 name: CROAP5 synonym: "CROAP-5" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000574 ! lymphoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002147 name: CaHPV10 is_a: BTO:0001033 ! prostate cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0001663 ! prostate carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002148 name: CaOv3 xref: BTO:0000814 xref: CLO:0002195 xref: RRID:CVCL_0201 is_a: EFO:0002394 ! ovarian cancer cell lines is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0001075 ! ovarian carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002149 name: Caki1 synonym: "Caki-1" EXACT [] xref: NCIt:C117214 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000349 ! clear cell renal carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002150 name: Caki2 synonym: "Caki-2" EXACT [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0001643 ! kidney derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002890 ! renal carcinoma property_value: definition:citation https://www.atcc.org/Products/All/HTB-47.aspx xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002151 name: Calu1 synonym: "Calu-1" EXACT [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0001071 ! lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002152 name: Calu6 synonym: "Calu-6" EXACT [] xref: BTO:0002235 xref: CLO:0002193 xref: RRID:CVCL_0236 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000313 ! carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002153 name: Capan1 synonym: "Capan-1" EXACT [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002618 ! pancreatic carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002154 name: Capan2 synonym: "Capan-2" EXACT [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002618 ! pancreatic carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002155 name: ChaGoK1 is_a: EFO:0001639 ! cancer cell line relationship: has_characteristic EFO:0000707 ! squamous cell carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002156 name: D283Med synonym: "HTB-185" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002939 ! medulloblastoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002157 name: D341Med is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002939 ! medulloblastoma property_value: definition:citation https://www.atcc.org/en/Products/Cells_and_Microorganisms/By_Tissue/Brain/HTB-187.aspx xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002158 name: DB xref: SNOMEDCT:259042002 is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0001642 ! lymphoid neoplasm property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002159 name: DBTRG05MG is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000519 ! glioblastoma multiforme property_value: IAO:0000117 "DBTRG-05MG" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002160 name: DG75 xref: BTO:0003637 xref: CLO:0002767 xref: RRID:CVCL_0244 is_a: BTO:0000164 ! Burkitt lymphoma cell relationship: has_characteristic EFO:0000309 ! Burkitts lymphoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002161 name: DKMG is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000519 ! glioblastoma multiforme property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002162 name: DMS114 synonym: "DMS 114" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000702 ! small cell lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002163 name: DMS153 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000702 ! small cell lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002164 name: DMS273 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000702 ! small cell lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002165 name: DMS53 synonym: "DMS-53" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000702 ! small cell lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002166 name: DMS79 synonym: "DMS-79" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000702 ! small cell lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002167 name: DOHH2 xref: CLO:0002805 xref: RRID:CVCL_1179 is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000574 ! lymphoma property_value: definition:citation https://www.dsmz.de/catalogues/details/culture/ACC-47.html xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002168 name: DU4475 xref: CLO:0002842 xref: RRID:CVCL_1183 is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002169 name: Daudi def: "A Daudi Burkitt's lymphoma cell line is a cell line.\nA Daudi Burkitt's lymphoma cell line is bearer of Daudi Burkitt's lymphoma." [] synonym: "GM03190" EXACT [] synonym: "GM03190A" EXACT [] synonym: "GM17346" EXACT [] synonym: "GM3190" EXACT [] synonym: "NK-10A" EXACT [] xref: BTO:0001561 xref: CLO:0002708 xref: RRID:CVCL_0008 is_a: BTO:0000164 ! Burkitt lymphoma cell relationship: has_characteristic EFO:0000309 ! Burkitts lymphoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string [Term] id: EFO:0002170 name: Detroit562 synonym: "Detroit 562" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000574 ! lymphoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002171 name: DoTc2 synonym: "DoTc2 4510" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005218 ! cervical carcinoma cell line relationship: has_characteristic EFO:0001061 ! cervical carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002172 name: EB1 is_a: BTO:0000164 ! Burkitt lymphoma cell relationship: has_characteristic EFO:0000309 ! Burkitts lymphoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002173 name: EB2 is_a: BTO:0000164 ! Burkitt lymphoma cell relationship: has_characteristic EFO:0000309 ! Burkitts lymphoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002174 name: EB3 is_a: BTO:0000164 ! Burkitt lymphoma cell relationship: has_characteristic EFO:0000309 ! Burkitts lymphoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002175 name: EFM19 synonym: "EMF-19" EXACT [] is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002176 name: EM2 synonym: "EM-2" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005294 ! chronic myelogenous leukemia cell line relationship: has_characteristic EFO:0000339 ! chronic myelogenous leukemia property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002177 name: ES2 is_a: EFO:0002394 ! ovarian cancer cell lines is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0001075 ! ovarian carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002178 name: FaDu comment: Cell line derived from squamous cell carcinoma of the hypopharynx. is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002938 ! hypopharyngeal carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002179 name: G401 def: "A human cell line derived from a pediatric patient initially classified as Wilm's tumor, reclassified as deriving from a rhabdoid tumor of the kidney." [] synonym: "G-401" EXACT [] xref: https://www.atcc.org/Products/All/CRL-1441.aspx is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001643 ! kidney derived cell line is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002180 name: G402 def: "A human cell line derived from some renal leiomyeloblastoma" [] is_a: EFO:0001643 ! kidney derived cell line is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002181 name: GA10 is_a: BTO:0000164 ! Burkitt lymphoma cell relationship: has_characteristic EFO:0000309 ! Burkitts lymphoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002182 name: GCT def: "A Giant Cell Tumor (GCT) cell line derived from a human fibrous histiocytoma lung metastasis" [] is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002183 name: GDM1 def: "A cell line derived from a human patient with Philadelphia chromosome negative myeloproliferative disorder, after transformation to acute myelomonoblastic leukemia.http://www.ncbi.nlm.nih.gov/pubmed/6296552" [] synonym: "GDM 1" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000565 ! leukemia property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002184 name: H4 def: "A cell line of epithelial morphology derived from adult human brain." [] xref: BTO:0003704 xref: CLO:0003599 xref: RRID:CVCL_1239 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line property_value: definition:citation https://www.atcc.org/products/all/HTB-148.aspx#generalinformation xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002185 name: HCC1395 synonym: "HCC-1395" EXACT [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005215 ! breast adenocarcinoma cell line relationship: has_characteristic EFO:0000186 ! invasive breast ductal carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002186 name: HCC1599 synonym: "HCC-1599" EXACT [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005215 ! breast adenocarcinoma cell line relationship: has_characteristic EFO:0000186 ! invasive breast ductal carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002187 name: HCC2218 synonym: "HCC-2218" EXACT [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002188 name: HCT15 synonym: "HCT-15" EXACT [] xref: BTO:0002201 xref: CLO:0003666 xref: NCIt:C117163 xref: RRID:CVCL_0292 is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0001000 EFO:0000365 ! derives_from colorectal adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002189 name: HCT8 synonym: "HCT-8" EXACT [] xref: CLO:0003667 xref: RRID:CVCL_2478 is_a: BTO:0001616 ! colorectal cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002190 name: HDMYZ is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000183 ! Hodgkins lymphoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002191 name: HEC1A synonym: "HEC-1A" EXACT [] xref: BTO:0002960 xref: CLO:0003674 xref: RRID:CVCL_0293 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000466 ! endometrioid carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002192 name: HEC1B synonym: "HEC-1-B" EXACT [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000466 ! endometrioid carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002193 name: HEL9217 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000565 ! leukemia property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002194 name: HH is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0002913 ! Cutaneous T-cell lymphoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002195 name: HMCB is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002196 name: HOS is_a: BTO:0000407 ! osteosarcoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000637 ! osteosarcoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002197 name: HPAC is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002618 ! pancreatic carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002198 name: HPAFII is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002618 ! pancreatic carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002199 name: HSSultan is_a: BTO:0000164 ! Burkitt lymphoma cell is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000309 ! Burkitts lymphoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002200 name: HT is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000574 ! lymphoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002201 name: obsolete_HT1080 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.8" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate with EFO_0002059" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0002059 [Term] id: EFO:0002202 name: HT1197 synonym: "HT-1197" EXACT [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic MONDO:0004986 ! urinary bladder carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002203 name: HT1376 synonym: "HT-1376" EXACT [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic MONDO:0004986 ! urinary bladder carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002204 name: HT3 synonym: "HT-3" EXACT [] xref: SNOMEDCT:272850005 is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0001000 EFO:0001061 ! derives_from cervical carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002205 name: Hep3B synonym: "Hep-3B" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005216 ! hepatoma cell line relationship: has_characteristic EFO:0000182 ! hepatocellular carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002206 name: obsolete_HepG2 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.8" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate with EFO_0001187" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0001187 [Term] id: EFO:0002207 name: HuNS1 synonym: "HuNS-1" EXACT [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line is_a: EFO:0005292 ! lymphoblastoid cell line relationship: has_characteristic EFO:0001378 ! multiple myeloma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002208 name: HuPT4 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002618 ! pancreatic carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002209 name: HuT78 synonym: "NCI-H78" EXACT [] xref: BTO:0001945 xref: CLO:0004304 xref: RRID:CVCL_0337 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000574 ! lymphoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002210 name: J82 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic MONDO:0004986 ! urinary bladder carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002211 name: JAR xref: NCIt:C43195 xref: SNOMEDCT:705586008 is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002893 ! choriocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002212 name: JM1 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000220 ! acute lymphoblastic leukemia property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002213 name: JRT3T35 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000220 ! acute lymphoblastic leukemia property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002214 name: JVM3 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000220 ! acute lymphoblastic leukemia property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002215 name: Jiyoye def: "A Jiyoye is a cell line.\nA Jiyoye is bearer of a Burkitt's lymphoma." [] is_a: BTO:0000164 ! Burkitt lymphoma cell is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000309 ! Burkitts lymphoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string [Term] id: EFO:0002216 name: obsolete_K562 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.8" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate of EFO_0002067 (K562)" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0002067 [Term] id: EFO:0002217 name: KATOIII is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000178 ! gastric carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002218 name: KG1 xref: BTO:0000670 xref: CLO:0007093 xref: RRID:CVCL_0374 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000222 ! acute myeloid leukemia property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002219 name: KHOS240S is_a: BTO:0000407 ! osteosarcoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000637 ! osteosarcoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002220 name: KLE is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0001000 EFO:0000466 ! derives_from endometrioid carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002221 name: KPL1 is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002222 name: KU812 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005294 ! chronic myelogenous leukemia cell line relationship: has_characteristic EFO:0000339 ! chronic myelogenous leukemia property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002223 name: KYSE30 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000707 ! squamous cell carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002224 name: Kasumi2 is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002225 name: L428 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000183 ! Hodgkins lymphoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002226 name: LS1034 is_a: BTO:0001616 ! colorectal cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002227 name: LS174T is_a: BTO:0001616 ! colorectal cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002228 name: MC116 is_a: BTO:0000164 ! Burkitt lymphoma cell is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000309 ! Burkitts lymphoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002229 name: MCCAR is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0001378 ! multiple myeloma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002230 name: MCIXC is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005214 ! neuroblastoma cell line relationship: has_characteristic EFO:0000621 ! neuroblastoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002231 name: MEC1 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000095 ! chronic lymphocytic leukemia property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002232 name: MEG01 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005294 ! chronic myelogenous leukemia cell line relationship: has_characteristic EFO:0000339 ! chronic myelogenous leukemia property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002233 name: MESSA is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002914 ! uterine sarcoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002234 name: MG63 is_a: BTO:0000407 ! osteosarcoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000637 ! osteosarcoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002235 name: MHHPREB1 is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0001642 ! lymphoid neoplasm property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002236 name: MIA Paca-2 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002618 ! pancreatic carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002237 name: MJ xref: SNOMEDCT:258787002 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000209 ! T-cell acute lymphoblastic leukemia property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002238 name: ML2 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000222 ! acute myeloid leukemia property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002239 name: MOLT16 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000220 ! acute lymphoblastic leukemia relationship: RO:0001000 HANCESTRO:0005 ! derives_from European property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002240 name: obsolete_MOLT4 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.8" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate of EFO_0001220" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0001220 [Term] id: EFO:0002241 name: MT3 is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002242 name: MV4II is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000222 ! acute myeloid leukemia property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002243 name: Malme3M is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002244 name: NALM1 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005294 ! chronic myelogenous leukemia cell line relationship: has_characteristic EFO:0000339 ! chronic myelogenous leukemia property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002245 name: NALM6 xref: BTO:0003288 xref: CLO:0007938 xref: RRID:CVCL_0092 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000220 ! acute lymphoblastic leukemia property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002246 name: NAMALWA synonym: "NK62a" EXACT [] synonym: "NWA" EXACT [] xref: BTO:0003289 xref: CLO:0007939 xref: RRID:CVCL_0067 is_a: BTO:0000164 ! Burkitt lymphoma cell is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000309 ! Burkitts lymphoma property_value: definition:citation https://www.atcc.org/products/all/CRL-1432.aspx#generalinformation xsd:string property_value: definition:citation https://www.sigmaaldrich.com/catalog/product/sigma/cb_87060801?lang=en®ion=US&gclid=EAIaIQobChMIjPy10Jiq3wIVcyCtBh1y0wk_EAMYASAAEgLz8fD_BwE xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002247 name: NC37 is_a: BTO:0000164 ! Burkitt lymphoma cell relationship: has_characteristic EFO:0000309 ! Burkitts lymphoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002248 name: NCI-H1048 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000222 ! acute myeloid leukemia property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002249 name: NCI-H1092 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000702 ! small cell lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002250 name: NCI-H1155 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0001071 ! lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002251 name: NCI-H1355 is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002252 name: NCI-H1395 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0001071 ! lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002253 name: NCI-H1436 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000702 ! small cell lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002254 name: NCI-H1437 synonym: "H-1437" EXACT [] synonym: "H1437" EXACT [] xref: BTO:0003244 xref: CLO:0007997 xref: RRID:CVCL_1472 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002255 name: NCI-H1563 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002256 name: NCI-H1573 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002257 name: NCI-H1581 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0001071 ! lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002258 name: NCI-H1618 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0001071 ! lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002259 name: NCI-H1623 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002260 name: NCI-H1650 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002261 name: NCI-H1651 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002262 name: NCI-H1666 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002263 name: NCI-H1694 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0001071 ! lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002264 name: NCI-H1703 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002265 name: NCI-H1770 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0001071 ! lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002266 name: NCI-H1792 synonym: "H1792" EXACT [] xref: BTO:0005836 xref: CLO:0008019 xref: RRID:CVCL_1495 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002267 name: NCI-H1793 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002268 name: NCI-H1838 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002269 name: NCI-H187 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0001071 ! lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002270 name: NCI-H1930 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000702 ! small cell lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002271 name: NCI-H1975 synonym: "H1975" EXACT [] xref: BTO:0004824 xref: CLO:0008035 xref: RRID:CVCL_1511 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002272 name: NCI-H1993 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002273 name: NCI-H2009 synonym: "H-2009" EXACT [] synonym: "H2009" EXACT [] synonym: "NCIH2009" EXACT [] xref: BTO:0003242 xref: CLO:0008038 xref: RRID:CVCL_1514 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002274 name: NCI-H2030 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002275 name: NCI-H2052 is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000588 ! mesothelioma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002276 name: NCI-H2081 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000702 ! small cell lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002277 name: NCI-H2087 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0001071 ! lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002278 name: NCI-H2107 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000702 ! small cell lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002279 name: NCI-H2122 synonym: "H-2122" EXACT [] synonym: "H2122" EXACT [] xref: BTO:0003006 xref: CLO:0008055 xref: RRID:CVCL_1531 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0001071 ! lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002280 name: NCI-H2126 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002281 name: NCI-H2170 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0001071 ! lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002282 name: NCI-H2171 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0001071 ! lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002283 name: NCI-H2195 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0001071 ! lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002284 name: NCI-H2228 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002285 name: NCI-H226 xref: NCIt:C117137 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0001071 ! lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002286 name: NCI-H23 synonym: "H23" EXACT [] xref: BTO:0003238 xref: CLO:0008071 xref: NCIt:C117141 xref: RRID:CVCL_1547 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0001071 ! lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002287 name: NCI-H2347 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002288 name: NCI-H2405 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002289 name: NCI-H295R def: "Human NCI-H295R Adrenocortical Carcinoma" [] synonym: "H-295R" EXACT [] synonym: "H295R-S1" EXACT [] xref: CLO:0008082 xref: RRID:CVCL_0458 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000313 ! carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0002290 name: obsolete_NCI-H322 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.65" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : EFO_0006691 label : NCI-H322T" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0006691 [Term] id: EFO:0002291 name: NCI-H358 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0001071 ! lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002292 name: NCI-H441 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002293 name: NCI-H446 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0001071 ! lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002294 name: NCI-H508 is_a: BTO:0001616 ! colorectal cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002295 name: NCI-H522 xref: NCIt:C117158 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0001071 ! lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002296 name: NCI-H524 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000702 ! small cell lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002297 name: NCI-H630 is_a: BTO:0001616 ! colorectal cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002298 name: NCI-H650 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0001071 ! lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002299 name: NCI-H661 is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0001000 EFO:0001071 ! derives_from lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002300 name: NCI-H69 def: "Human Caucasian lung small cell carcinoma cell line." [] comment: Merged definition and description based on now-obsolete EFO_0002823 that refers to ATCC call number: HTB-119 and http://www.lgcstandards-atcc.org/products/all/HTB-119.aspx?geo_country=gb synonym: "H69" EXACT [] synonym: "H69 cell" EXACT [] xref: BTO:0000679 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000702 ! small cell lung carcinoma relationship: has_characteristic EFO:0001071 ! lung carcinoma relationship: RO:0001000 HANCESTRO:0005 ! derives_from European property_value: definition:citation "HTB-119" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0002301 name: NCI-H716 is_a: BTO:0001616 ! colorectal cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002302 name: NCI-H720 is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002303 name: NCI-H747 is_a: BTO:0001616 ! colorectal cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002304 name: NCI-H748 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000702 ! small cell lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002305 name: NCI-H810 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0001071 ! lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002306 name: NCI-H82 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0001071 ! lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002307 name: NCI-H838 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002308 name: OE19 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002916 ! esophageal carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002309 name: OE21 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002916 ! esophageal carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002310 name: OE33 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002916 ! esophageal carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002311 name: OV90 xref: BTO:0004852 xref: CLO:0008276 xref: RRID:CVCL_3768 is_a: EFO:0002394 ! ovarian cancer cell lines is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002917 ! ovarian serous adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002312 name: P3HR1 is_a: BTO:0000164 ! Burkitt lymphoma cell is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000309 ! Burkitts lymphoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002313 name: PLB985 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000222 ! acute myeloid leukemia property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002314 name: RCHACV is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000220 ! acute lymphoblastic leukemia property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002315 name: RD is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002918 ! rhabdomyosarcoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002316 name: RDES is_a: BTO:0000407 ! osteosarcoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000637 ! osteosarcoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002317 name: REC1 is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0001642 ! lymphoid neoplasm property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002318 name: RKOE6 is_a: BTO:0001616 ! colorectal cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002319 name: RL is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000574 ! lymphoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002320 name: RL952 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002919 ! uterine carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002321 name: RPMI6666 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000183 ! Hodgkins lymphoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002322 name: RPMI8226 synonym: "GM 2132" EXACT [] synonym: "GM02132" EXACT [] synonym: "GM02132C" EXACT [] synonym: "GM2132" EXACT [] xref: BTO:0000726 xref: CLO:0008873 xref: RRID:CVCL_0014 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0001378 ! multiple myeloma property_value: definition:citation https://www.atcc.org/Products/All/CCL-155.aspx xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002323 name: RWPE1 def: "Epithelial cells derived from the peripheral zone of a histologically normal adult human prostate were transfected with a single copy of the human papilloma virus 18 (HPV-18) to establish the RWPE-1 (ATCC CRL-11609) cell line. [PMID:9214605]." [] synonym: "CRL-11609" EXACT [] synonym: "RWPE 1" EXACT [] synonym: "RWPE_1" EXACT [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002891 ! prostate derived cell line is_a: EFO:0002922 ! normal cell line relationship: has_characteristic PATO:0000461 ! normal relationship: RO:0000086 PATO:0000384 ! has_quality male relationship: RO:0001000 HANCESTRO:0005 ! derives_from European property_value: definition:citation http://www.atcc.org/products/all/CRL-11609.aspx#characteristics xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002324 name: Raji synonym: "GM04671" EXACT [] synonym: "P1-Raji" EXACT [] xref: BTO:0001154 xref: CLO:0008734 xref: RRID:CVCL_0511 is_a: BTO:0000164 ! Burkitt lymphoma cell is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000309 ! Burkitts lymphoma property_value: definition:citation https://www.atcc.org/Products/All/CCL-86.aspx xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002325 name: SCaBER is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000707 ! squamous cell carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002326 name: SEM xref: RRID:CVCL_0095 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000220 ! acute lymphoblastic leukemia property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002327 name: SH4 is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002328 name: SHP77 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0001071 ! lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002329 name: SJRH30 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002918 ! rhabdomyosarcoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002330 name: SJSA1 synonym: "Os-A" EXACT [] synonym: "OSACL" EXACT [] xref: BTO:0004216 xref: CLO:0009031 xref: RRID:CVCL_1697 is_a: BTO:0000407 ! osteosarcoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000637 ! osteosarcoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002331 name: SKLMS1 xref: BTO:0002607 xref: CLO:0009038 xref: RRID:CVCL_0628 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002920 ! vulva sarcoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002332 name: SKMEL1 is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002333 name: SKMEL3 is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002334 name: SKMES1 xref: BTO:0002203 xref: CLO:0009048 xref: RRID:CVCL_0630 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000707 ! squamous cell carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002335 name: obsolete_SKNAS property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.2" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate of EFO_0002859" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0002859 [Term] id: EFO:0002336 name: obsolete_SKNDZ xref: CLO:0009054 xref: RRID:CVCL_1701 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.65" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : EFO_0005721 label : SK-N-DZ" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0005721 [Term] id: EFO:0002337 name: SKNEP1 def: "SKNEP1 is a human kidney cell line derived from a patient with Nephroblastoma." [] is_a: EFO:0001643 ! kidney derived cell line is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002338 name: SKNFI synonym: "SK-N-F1" EXACT [] synonym: "SKNF1" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005214 ! neuroblastoma cell line relationship: has_characteristic EFO:0000621 ! neuroblastoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0002339 name: SKO007 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0001378 ! multiple myeloma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002340 name: SKOV3 is_a: EFO:0002394 ! ovarian cancer cell lines is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0001075 ! ovarian carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002341 name: SKUT1 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000564 ! leiomyosarcoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002342 name: SNB19 synonym: "SNB-19" EXACT [] xref: MCC:0000434 xref: NCIt:C117176 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000519 ! glioblastoma multiforme property_value: definition:citation "Tomasz Adamusiak" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002343 name: SNU1 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000178 ! gastric carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002344 name: SNU16 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000178 ! gastric carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002345 name: SNU182 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005216 ! hepatoma cell line relationship: has_characteristic EFO:0000182 ! hepatocellular carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002346 name: SNU387 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005216 ! hepatoma cell line relationship: has_characteristic EFO:0000182 ! hepatocellular carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002347 name: SNU398 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005216 ! hepatoma cell line relationship: has_characteristic EFO:0000182 ! hepatocellular carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002348 name: SNU423 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005216 ! hepatoma cell line relationship: has_characteristic EFO:0000182 ! hepatocellular carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002349 name: SNU449 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005216 ! hepatoma cell line relationship: has_characteristic EFO:0000182 ! hepatocellular carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002350 name: SNU475 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005216 ! hepatoma cell line relationship: has_characteristic EFO:0000182 ! hepatocellular carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002351 name: SNU5 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000178 ! gastric carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002352 name: SR xref: NCIt:C117126 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000574 ! lymphoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002353 name: ST486 is_a: BTO:0000164 ! Burkitt lymphoma cell is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000309 ! Burkitts lymphoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002354 name: SUDHL10 synonym: "SU-DHL-10" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000574 ! lymphoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002355 name: SUDHL16 synonym: "SU-DHL-16" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0001642 ! lymphoid neoplasm property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002356 name: SUDHL5 synonym: "SU-DHL-5" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0001642 ! lymphoid neoplasm property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002357 name: SUDHL6 synonym: "SU-DHL-6" EXACT [] is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000574 ! lymphoma property_value: definition:citation https://www.atcc.org/products/all/CRL-2959.aspx xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002358 name: SW1088 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000519 ! glioblastoma multiforme property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002359 name: SW1116 is_a: BTO:0001616 ! colorectal cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002360 name: SW1353 def: "Human chondrosarcoma cell line" [] xref: CLO:0009210 xref: RRID:CVCL_0543 is_a: BTO:0000407 ! osteosarcoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000637 ! osteosarcoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0002361 name: SW1417 is_a: BTO:0001616 ! colorectal cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002362 name: SW1463 is_a: BTO:0001616 ! colorectal cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002363 name: SW1573 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0001071 ! lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002364 name: SW1783 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000519 ! glioblastoma multiforme property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002365 name: SW1990 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002618 ! pancreatic carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002366 name: SW403 is_a: BTO:0001616 ! colorectal cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002367 name: SW48 is_a: BTO:0001616 ! colorectal cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002368 name: SW620 xref: BTO:0000675 xref: CLO:0009221 xref: RRID:CVCL_0547 is_a: BTO:0001616 ! colorectal cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002369 name: SW684 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002087 ! fibrosarcoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002370 name: SW756 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005218 ! cervical carcinoma cell line relationship: has_characteristic EFO:0001061 ! cervical carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002371 name: SW780 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic MONDO:0004986 ! urinary bladder carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002372 name: SW837 is_a: BTO:0001616 ! colorectal cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002373 name: SW872 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000569 ! liposarcoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002374 name: SW900 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000702 ! small cell lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002375 name: SW948 is_a: BTO:0001616 ! colorectal cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002376 name: SW954 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002921 ! vulvar carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002377 name: SW962 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002921 ! vulvar carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002378 name: SW982 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0001376 ! synovial sarcoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002379 name: SiHa xref: BTO:0002210 xref: CLO:0009017 xref: RRID:CVCL_0032 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005218 ! cervical carcinoma cell line relationship: has_characteristic EFO:0001061 ! cervical carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002380 name: TANOUE is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000220 ! acute lymphoblastic leukemia property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002381 name: obsolete_THP1 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.8" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate of EFO_0001253" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0001253 [Term] id: EFO:0002382 name: TT is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002892 ! thyroid carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002383 name: Toledo is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0001642 ! lymphoid neoplasm property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002384 name: obsolete_U266B1 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.65" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use EFO_0001254 label : U266" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0001254 [Term] id: EFO:0002385 name: UACC893 is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002386 name: UMC11 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0001071 ! lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002387 name: obsolete_UMUC3 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.65" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : EFO_0006771 label : UM-UC-3" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0006771 [Term] id: EFO:0002389 name: WIDR is_a: BTO:0001616 ! colorectal cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002390 name: WM115 synonym: "WC00079" EXACT [] synonym: "WM115-mel" EXACT [] synonym: "WM115F" EXACT [] synonym: "WM115mel" EXACT [] xref: BTO:0003075 xref: CLO:0009613 xref: RRID:CVCL_0040 is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002391 name: obsolete_Wi38 alt_id: EFO:0002388 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "1.8" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate use EFO_0001260" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0001260 [Term] id: EFO:0002392 name: Y79 def: "human Y79 retinoblastoma cells" [] synonym: "GM01232" EXACT [] synonym: "GM01232E" EXACT [] xref: CLO:0009709 xref: RRID:CVCL_1893 is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0002393 name: obsolete_YAPC property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.65" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : EFO_0006778 label : YAPC instead" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0006778 [Term] id: EFO:0002394 name: ovarian cancer cell lines def: "Cell lines derived from ovarian cancer tissue." [] is_a: EFO:0001639 ! cancer cell line [Term] id: EFO:0002422 name: benign neoplasm def: "A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." [NCIT:C3677] comment: Editor note: see https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/14 synonym: "benign neoplasm" EXACT [NCIT:C3677] synonym: "benign neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "benign neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "benign neoplasm (disease)" EXACT [] synonym: "benign tumor" RELATED [NCIT:C3677] synonym: "benign tumour" RELATED OMO:0003005 [] synonym: "benign unclassifiable tumor" RELATED [NCIT:C3677] synonym: "benign unclassifiable tumour" RELATED OMO:0003005 [] synonym: "cell type benign neoplasm" RELATED [DOID:0060084] synonym: "neoplasm (disease), benign" EXACT [MONDO:patterns/benign] synonym: "neoplasm, benign" RELATED [NCIT:C3677] synonym: "organ system benign neoplasm" RELATED [DOID:0060085] xref: DOID:0060072 {source="EFO:0002422", source="MONDO:equivalentTo"} xref: DOID:0060084 {source="MONDO:equivalentTo"} xref: DOID:0060085 {source="MONDO:equivalentTo"} xref: EFO:0002422 {source="MONDO:equivalentTo"} xref: ICD10:D10.D36 {source="MONDO:equivalentTo"} xref: ICD10CM:D10-D36 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10WHO:D10-D36 {source="MONDO:equivalentTo"} xref: ICD9:210-229.99 {source="EFO:0002422"} xref: ICD9:229.8 {source="MONDO:i2s"} xref: ICD9:229.8 {source="i2s"} xref: ICD9:229.9 {source="MONDO:i2s"} xref: ICD9:229.9 {source="i2s"} xref: ICDO:8000/0 {source="NCIT:C3677"} xref: MONDO:0005165 xref: NCIT:C3677 {source="EFO:0002422", source="MONDO:equivalentTo"} xref: SCTID:20376005 {source="MONDO:equivalentTo"} is_a: EFO:0000616 {source="DOID:0060072", source="DOID:0060084/inferred", source="DOID:0060085/inferred", source="EFO:0002422", source="ICD10CM:D10-D36", source="MONDO:Redundant", source="NCIT:C3677/inferred"} ! neoplasm property_value: closeMatch http://identifiers.org/snomedct/3898006 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0086692 property_value: exactMatch DOID:0060072 property_value: exactMatch DOID:0060072 property_value: exactMatch DOID:0060084 property_value: exactMatch DOID:0060084 property_value: exactMatch DOID:0060085 property_value: exactMatch DOID:0060085 property_value: exactMatch http://identifiers.org/snomedct/20376005 property_value: exactMatch http://identifiers.org/snomedct/20376005 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D10-D36 property_value: exactMatch https://icd.who.int/browse10/2019/en#/D10-D36 property_value: exactMatch NCIT:C3677 property_value: exactMatch NCIT:C3677 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/benign.yaml [Term] id: EFO:0002423 name: osteoma def: "A benign, well-circumscribed, bone-forming neoplasm predominantly composed of lamellar bone. It usually arises from the calvarial, facial, or jaw bones. It is usually asymptomatic but it may cause local swelling or obstruction of the paranasal sinuses. Asymptomatic cases have an indolent clinical course." [NCIT:P378] synonym: "osteoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "osteoma" EXACT [MONDO:ambiguous, NCIT:C3296] synonym: "osteoma" EXACT [] {comment="preferred label from MONDO"} synonym: "osteoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "osteoma, benign" EXACT [NCIT:C3296] xref: EFO:0002423 {source="MONDO:equivalentTo"} xref: HP:0100246 {source="MONDO:otherHierarchy"} xref: ICDO:9180/0 {source="NCIT:C3296"} xref: MESH:D010016 {source="MONDO:equivalentTo", source="EFO:0002423"} xref: MONDO:0005166 xref: NCIT:C3296 {source="MONDO:equivalentTo", source="EFO:0002423"} xref: SCTID:302858007 {source="MONDO:equivalentTo", source="EFO:0002423"} xref: UMLS:C0029440 {source="NCIT:C3296", source="MONDO:equivalentTo"} is_a: MONDO:0000631 {source="NCIT:C3296"} ! bone benign neoplasm relationship: EFO:0000784 UBERON:0001474 ! has_disease_location bone element property_value: closeMatch http://identifiers.org/snomedct/83612000 property_value: exactMatch http://identifiers.org/mesh/D010016 property_value: exactMatch http://identifiers.org/mesh/D010016 property_value: exactMatch http://identifiers.org/snomedct/302858007 property_value: exactMatch http://identifiers.org/snomedct/302858007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029440 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029440 property_value: exactMatch NCIT:C3296 property_value: exactMatch NCIT:C3296 property_value: IAO:0000589 "osteoma (disease)" xsd:string [Term] id: EFO:0002424 name: fibroma def: "A non-metastasizing neoplasm arising from the fibrous tissue. It is characterized by the presence of spindle-shaped fibroblasts." [NCIT:C3041] synonym: "fibroma" EXACT [NCIT:C3041] synonym: "fibroma" EXACT [] {comment="preferred label from MONDO"} synonym: "fibroma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "fibroma, benign" EXACT [NCIT:C3041] xref: DOID:0050871 {source="EFO:0002424", source="MONDO:equivalentTo"} xref: EFO:0002424 {source="MONDO:equivalentTo"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:8810/0 {source="NCIT:C3041"} xref: MESH:D005350 {source="EFO:0002424", source="MONDO:equivalentTo"} xref: MONDO:0005167 xref: NCIT:C3041 {source="EFO:0002424", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C3041 {source="EFO:0002424", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:424568000 {source="EFO:0002424", source="MONDO:equivalentTo"} is_a: EFO:1000255 {source="NCIT:C3041"} ! Fibroblastic Neoplasm property_value: closeMatch http://identifiers.org/snomedct/112682009 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0016045 property_value: exactMatch DOID:0050871 property_value: exactMatch DOID:0050871 property_value: exactMatch http://identifiers.org/mesh/D005350 property_value: exactMatch http://identifiers.org/mesh/D005350 property_value: exactMatch http://identifiers.org/snomedct/424568000 property_value: exactMatch http://identifiers.org/snomedct/424568000 property_value: exactMatch NCIT:C3041 property_value: exactMatch NCIT:C3041 [Term] id: EFO:0002425 name: neoplasm of immature B and T cells def: "A neoplasm arising from immature B and T cells" [EFO:0002425] synonym: "neoplasm of immature B and T cells" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "neoplasm of immature B and T cells" EXACT [] {comment="preferred label from MONDO"} xref: EFO:0002425 {source="MONDO:equivalentTo"} xref: MONDO:0005168 is_a: EFO:0001642 {source="EFO:0002425"} ! lymphoid neoplasm [Term] id: EFO:0002426 name: neoplasm of mature T-cells or NK-cells def: "A group of neoplasms composed of T-lymphocytes with a mature (peripheral/post-thymic) immunophenotypic profile and/or NK-cells." [NCIT:C27909] synonym: "mature T and NK neoplasms" EXACT [] synonym: "mature T-cell and NK-cell neoplasm" EXACT [NCIT:C27909] synonym: "mature T-cell neoplasm" EXACT [NCIT:C27909] synonym: "neoplasm of mature T-cells or NK-cells" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "neoplasm of mature T-cells or NK-cells" EXACT [] {comment="preferred label from MONDO"} xref: EFO:0002426 {source="MONDO:equivalentTo"} xref: MONDO:0005169 xref: NCIT:C27909 {source="MONDO:equivalentTo", source="EFO:0002426"} xref: ONCOTREE:MTNN {source="MONDO:equivalentTo"} xref: UMLS:C1334640 {source="NCIT:C27909", source="MONDO:equivalentTo"} is_a: MONDO:0024615 {source="NCIT:C27909"} ! T-cell and NK-cell neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334640 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334640 property_value: exactMatch NCIT:C27909 property_value: exactMatch NCIT:C27909 [Term] id: EFO:0002427 name: myeloid neoplasm def: "Proliferation of myeloid cells originating from a primitive stem cell." [NCIT:C9290] synonym: "myeloid malignancy" EXACT [NCIT:C9290] synonym: "myeloid neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "myeloid neoplasm" EXACT [NCIT:C9290] synonym: "myeloid neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "myeloid tumor" EXACT [NCIT:C9290] synonym: "myeloid tumour" EXACT OMO:0003005 [] xref: DOID:0070004 {source="MONDO:equivalentTo"} xref: EFO:0002427 {source="MONDO:equivalentTo"} xref: ICDO:9975/1 {source="NCIT:C9290"} xref: MONDO:0005170 xref: NCIT:C9290 {source="MONDO:equivalentTo", source="EFO:0002427"} xref: ONCOTREE:MYELOID {source="MONDO:equivalentTo"} xref: UMLS:C2939461 {source="MONDO:equivalentTo", source="NCIT:C9290"} is_a: MONDO:0044881 {source="NCIT:C9290"} ! hematopoietic and lymphoid cell neoplasm relationship: EFO:0000784 CL:0000763 ! has_disease_location myeloid cell property_value: closeMatch http://identifiers.org/snomedct/414792005 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0005767 property_value: closeMatch NCIT:C12434 property_value: exactMatch DOID:0070004 property_value: exactMatch DOID:0070004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2939461 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2939461 property_value: exactMatch NCIT:C9290 property_value: exactMatch NCIT:C9290 property_value: excluded_subClassOf MONDO:0005157 {source="EFO:0002427"} property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0002428 name: chronic myeloproliferative disorder def: "A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. It is primarily a neoplasm of adults. (WHO 2008)" [NCIT:C4345] def: "Chronic Myeloproliferative Disease is an NCI Cancer Therapeutic Evaluation Program (CTEP) Simplified Disease Classification (SDC) category used to organize cancer-related disease coding that harmonizes with and supports reporting based on the global standard Medical Dictionary for Drug Regulatory Reporting (MedDRA) terminology." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98274"} synonym: "chronic myeloproliferative disease" EXACT [DOID:2226, NCIT:C4345] synonym: "chronic myeloproliferative disorder" EXACT [MONDO:0005171, NCIT:C4345] synonym: "chronic myeloproliferative disorders" RELATED [GARD:0009319] synonym: "chronic myeloproliferative neoplasm" EXACT [NCIT:C4345] synonym: "CMPD" EXACT ABBREVIATION [DOID:2226, NCIT:C4345] synonym: "CMPD, U" RELATED [DOID:2226, NCIT:C27350] synonym: "MPD" EXACT ABBREVIATION [NCIT:C4345, Orphanet:98274] synonym: "MPN" EXACT ABBREVIATION [NCIT:C4345, ONCOTREE:MPN, Orphanet:98274] synonym: "myeloproliferative disorder" EXACT [NCIT:C4345, Orphanet:98274] synonym: "myeloproliferative neoplasm" EXACT [NCIT:C4345] synonym: "myeloproliferative neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "myeloproliferative neoplasm, chronic" EXACT [MONDO:patterns/chronic] synonym: "myeloproliferative neoplasms" RELATED [ONCOTREE:MPN] synonym: "myeloproliferative tumor" EXACT [NCIT:C4345] synonym: "myeloproliferative tumour" EXACT OMO:0003005 [] synonym: "NCI CTEP SDC Chronic Myeloproliferative Disease Sub-Category Terminology" EXACT [] xref: DOID:2226 {source="MONDO:equivalentTo"} xref: EFO:0004251 {source="DOID:4960", source="MONDO:equivalentTo"} xref: ICD9:238.79 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9960/3 {source="NCIT:C4345"} xref: ICDO:9975/1 {source="NCIT:C4345"} xref: MedDRA:10028576 {source="Orphanet:98274/e", source="Orphanet:98274"} xref: MONDO:0020076 xref: NCIt:C103126 xref: NCIT:C4345 {source="DOID:2226", source="MONDO:equivalentTo", source="EFO:0004251"} xref: OMIM:131440 xref: ONCOTREE:MPN {source="MONDO:equivalentTo"} xref: Orphanet:98274 {source="MONDO:equivalentTo"} xref: SCTID:425333006 {source="MONDO:equivalentTo"} xref: UMLS:C1292778 {source="Orphanet:98274/e", source="DOID:2226", source="MONDO:equivalentTo", source="NCIT:C4345", source="Orphanet:98274"} is_a: EFO:0002427 {source="DOID:2226", source="EFO:0002428", source="MONDO:Redundant", source="NCIT:C4345", source="ONCOTREE:MPN/inferred"} ! myeloid neoplasm is_a: EFO:0009714 ! chronic disease is_a: MONDO:0015756 {source="Orphanet:98274"} ! myeloid hemopathy is_a: MONDO:0021138 {source="MONDO:Redundant", source="NCIT:C4345"} ! bone marrow cancer relationship: has_modifier HP:0011010 ! Chronic property_value: closeMatch http://identifiers.org/meddra/10028576 property_value: exactMatch DOID:2226 property_value: exactMatch http://identifiers.org/snomedct/425333006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1292778 property_value: exactMatch NCIT:C4345 property_value: exactMatch Orphanet:98274 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002429 name: polycythemia vera def: "Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production." [Orphanet:729] subset: ordo_disease {source="Orphanet:729"} synonym: "acquired polycythemia vera" EXACT [] {comment="preferred label from MONDO"} synonym: "acquired polycythemia vera" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "acquired primary erythrocytosis" EXACT [Orphanet:729] synonym: "Osler-Vaquez disease" EXACT [Orphanet:729] synonym: "Osler-Vaquez syndrome" EXACT [DOID:8997] synonym: "polycythaemia rubra vera" EXACT [DOID:8997] synonym: "polycythemia rubra vera" EXACT [NCIT:C3336, OMIM:263300, Orphanet:729] synonym: "polycythemia vera" EXACT [MONDO:Lexical, NCIT:C3336, OMIM:263300] synonym: "polycythemia vera, somatic" EXACT [OMIM:263300, OMIM:genemap2] synonym: "primary polycythemia" RELATED [GARD:0007422] synonym: "proliferative polycythaemia" EXACT [DOID:8997] synonym: "PRV" RELATED ABBREVIATION [GARD:0007422] synonym: "PV" EXACT ABBREVIATION [MONDO:Lexical, OMIM:263300, Orphanet:729] synonym: "Vaquez disease" EXACT [Orphanet:729] xref: COHD:135214 {source="MONDO:equivalentTo"} xref: DOID:8997 {source="MONDO:equivalentTo", source="EFO:0002429"} xref: EFO:0002429 {source="MONDO:equivalentTo"} xref: GARD:0007422 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: http://www.nlm.nih.gov/medlineplus/ency/article/000589.htm xref: ICD10:D45 {source="DOID:8997", source="MONDO:equivalentTo", source="ORDO:729/e", source="Orphanet:729"} xref: ICD10CM:D45 {source="Orphanet:729/e", source="DOID:8997", source="MONDO:equivalentTo", source="Orphanet:729"} xref: ICD9:238.4 {source="DOID:8997", source="EFO:0002429"} xref: ICDO:9950/3 {source="NCIT:C3336"} xref: MedDRA:10036057 {source="Orphanet:729/e", source="Orphanet:729"} xref: MedDRA:10036057 {source="ORDO:729/e", source="Orphanet:729"} xref: MESH:D011087 {source="DOID:8997", source="MONDO:equivalentTo", source="ORDO:729/e", source="Orphanet:729", source="EFO:0002429"} xref: MESH:D011087 {source="Orphanet:729/e", source="DOID:8997", source="MONDO:equivalentTo", source="Orphanet:729", source="EFO:0002429"} xref: MONDO:0009891 xref: NCIT:C3336 {source="DOID:8997", source="MONDO:equivalentTo", source="exact-label-match", source="EFO:0002429"} xref: NCIT:C3336 {source="DOID:8997", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:0002429"} xref: OMIM:263300 {source="DOID:8997", source="MONDO:equivalentTo", source="ORDO:729/e", source="Orphanet:729", source="EFO:0002429"} xref: OMIM:263300 {source="Orphanet:729/e", source="DOID:8997", source="MONDO:equivalentTo", source="Orphanet:729", source="EFO:0002429"} xref: ONCOTREE:PV {source="MONDO:equivalentTo"} xref: Orphanet:729 {source="MONDO:equivalentTo", source="OMIM:263300"} xref: UMLS:C0032463 {source="DOID:8997", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:729/e", source="NCIT:C3336", source="OMIM:263300", source="Orphanet:729"} xref: UMLS:C0032463 {source="Orphanet:729/e", source="DOID:8997", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C3336", source="OMIM:263300", source="Orphanet:729"} is_a: EFO:0004251 ! myeloproliferative disorder is_a: EFO:0005804 {source="DOID:8997", source="EFO:0002429", source="NCIT:C3336", source="Orphanet:729"} ! polycythemia is_a: MONDO:0001115 ! familial polycythemia is_a: MONDO:0020703 {source="NCIT:C3336"} ! erythroid neoplasm is_a: MONDO:0023603 ! hereditary disorder of connective tissue property_value: closeMatch http://identifiers.org/meddra/10036057 property_value: closeMatch http://identifiers.org/snomedct/109992005 property_value: closeMatch http://identifiers.org/snomedct/128841001 property_value: closeMatch http://identifiers.org/snomedct/134182002 property_value: closeMatch http://identifiers.org/snomedct/154644004 property_value: closeMatch http://identifiers.org/snomedct/269652000 property_value: closeMatch http://identifiers.org/snomedct/278190000 property_value: closeMatch http://identifiers.org/snomedct/31569001 property_value: exactMatch DOID:8997 property_value: exactMatch DOID:8997 property_value: exactMatch http://identifiers.org/meddra/10036057 property_value: exactMatch http://identifiers.org/mesh/D011087 property_value: exactMatch http://identifiers.org/mesh/D011087 property_value: exactMatch http://identifiers.org/omim/263300 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032463 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032463 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D45 property_value: exactMatch https://omim.org/entry/263300 property_value: exactMatch NCIT:C3336 property_value: exactMatch NCIT:C3336 property_value: exactMatch Orphanet:729 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: EFO:0002430 name: primary myelofibrosis def: "Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension." [Orphanet:824] subset: ordo_disease {source="Orphanet:824"} synonym: "Agnogenic myeloid metaplasia" EXACT [DOID:4971, Orphanet:824] synonym: "aleukemic myelosis" EXACT [DOID:4971, MTHICD9_2006:205.8] synonym: "aleukemic myelosis" EXACT [DOID:4971] synonym: "AMM" EXACT ABBREVIATION [NCIT:C2862] synonym: "bone marrow fibrosis" EXACT [DOID:4971, NCIT:C36212] synonym: "chronic idiopathic myelofibrosis" EXACT [NCIT:C2862] synonym: "CIMF" EXACT ABBREVIATION [NCIT:C2862] synonym: "idiopathic bone marrow fibrosis" EXACT [NCIT:C2862] synonym: "idiopathic myelofibrosis" EXACT [Orphanet:824] synonym: "megakaryocytic myelosclerosis" EXACT [DOID:4971] synonym: "myelofibrosis" RELATED [OMIM:254450] synonym: "myelofibrosis with myeloid metaplasia" EXACT [OMIM:254450, Orphanet:824] synonym: "myelofibrosis with myeloid metaplasia" NARROW [OMIM:254450, Orphanet:824] synonym: "myelofibrosis with myeloid metaplasia, somatic" EXACT [OMIM:254450, OMIM:genemap2] synonym: "myelofibrosis, somatic" EXACT [OMIM:254450, OMIM:genemap2] synonym: "myeloid metaplasia" RELATED [GARD:0008618] synonym: "myelosclerosis" EXACT [CSP2005:2004-0936, DOID:4971] synonym: "myelosclerosis" EXACT [DOID:4971] synonym: "myelosclerosis with myeloid metaplasia" EXACT [NCIT:C2862] synonym: "osteomyelofibrosis" EXACT [Orphanet:824] synonym: "primary myelofibrosis" EXACT [DOID:4971] synonym: "primary myelofibrosis" EXACT [] {comment="preferred label from MONDO"} synonym: "primary myelofibrosis" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: COHD:133169 {source="MONDO:equivalentTo"} xref: DOID:4971 {source="MONDO:equivalentTo"} xref: EFO:0002430 {source="MONDO:equivalentTo"} xref: GARD:0008618 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: ICD10:D47.4 {source="DOID:4971", source="Orphanet:824", source="ORDO:824/ntbt"} xref: ICD10:D75.81 {source="DOID:4971"} xref: ICD9:238.76 {source="DOID:4971"} xref: ICD9:289.83 {source="DOID:4971"} xref: ICDO:9961/3 {source="NCIT:C2862"} xref: MESH:D055728 {source="DOID:4971", source="EFO:0002430", source="MONDO:equivalentTo"} xref: MONDO:0009692 xref: NCIT:C2862 {source="DOID:4971", source="EFO:0002430", source="MONDO:equivalentTo"} xref: OMIM:254450 {source="DOID:4971", source="EFO:0002430", source="MONDO:equivalentTo", source="Orphanet:824", source="Orphanet:824/e"} xref: OMIM:254450 {source="ORDO:824/e", source="DOID:4971", source="EFO:0002430", source="MONDO:equivalentTo", source="Orphanet:824"} xref: ONCOTREE:PMF {source="MONDO:equivalentTo"} xref: Orphanet:824 {source="OMIM:254450", source="MONDO:equivalentTo"} xref: UMLS:C0001815 {source="DOID:4971", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:824", source="NCIT:C2862"} xref: UMLS:C0001815 {source="DOID:4971", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:824", source="NCIT:C2862"} xref: UMLS:C0948968 {source="MONDO:equivalentTo"} xref: UMLS:C2355576 {source="MONDO:equivalentTo"} is_a: EFO:0002428 {source="EFO:0002430", source="NCIT:C2862", source="ONCOTREE:PMF", source="Orphanet:824"} ! chronic myeloproliferative disorder is_a: EFO:0004251 ! myeloproliferative disorder is_a: EFO:0006890 ! fibrosis is_a: MONDO:0001713 ! inherited aplastic anemia is_a: MONDO:0023603 ! hereditary disorder of connective tissue intersection_of: EFO:0006890 ! fibrosis intersection_of: EFO:0000784 UBERON:0002371 ! has_disease_location bone marrow relationship: has_characteristic MONDO:0021141 ! acquired property_value: closeMatch http://identifiers.org/snomedct/128843003 property_value: closeMatch http://identifiers.org/snomedct/154841009 property_value: closeMatch http://identifiers.org/snomedct/188773009 property_value: closeMatch http://identifiers.org/snomedct/22265001 property_value: closeMatch http://identifiers.org/snomedct/267572005 property_value: closeMatch http://identifiers.org/snomedct/307651005 property_value: closeMatch http://identifiers.org/snomedct/52967002 property_value: closeMatch http://identifiers.org/snomedct/78956007 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0026987 property_value: exactMatch DOID:4971 property_value: exactMatch DOID:4971 property_value: exactMatch http://identifiers.org/mesh/D055728 property_value: exactMatch http://identifiers.org/mesh/D055728 property_value: exactMatch http://identifiers.org/omim/254450 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001815 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001815 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0948968 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0948968 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2355576 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2355576 property_value: exactMatch https://omim.org/entry/254450 property_value: exactMatch NCIT:C2862 property_value: exactMatch NCIT:C2862 property_value: exactMatch Orphanet:824 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: EFO:0002431 name: tumour of cranial and spinal nerves def: "A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths." [NCIT:C3321] def: "Neoplasms which arise from peripheral nerve tissue. This includes NEUROFIBROMAS; SCHWANNOMAS; GRANULAR CELL TUMORS; and malignant peripheral NERVE SHEATH NEOPLASMS. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp1750-1)" [] synonym: "CNS-excluded nervous sys. cancer" NARROW [NCIT:C3321] synonym: "Neoplasm of Peripheral Nerve" EXACT [] synonym: "neoplasm of peripheral nerve" EXACT [NCIT:C3321] synonym: "Neoplasm of Peripheral Nervous System" EXACT [] synonym: "neoplasm of peripheral nervous system" EXACT [MONDO:patterns/neoplasm, NCIT:C3321] synonym: "Neoplasm of PNS" EXACT [] synonym: "neoplasm of PNS" EXACT [NCIT:C3321] synonym: "Neoplasm of the Peripheral Nerve" EXACT [] synonym: "neoplasm of the peripheral nerve" EXACT [NCIT:C3321] synonym: "Neoplasm of the Peripheral Nervous System" EXACT [] synonym: "neoplasm of the peripheral nervous system" EXACT [NCIT:C3321] synonym: "Neoplasm of the PNS" EXACT [] synonym: "neoplasm of the PNS" EXACT [NCIT:C3321] synonym: "Neoplasm, Peripheral Nerve" EXACT [] synonym: "Neoplasms, Peripheral Nerve" EXACT [] synonym: "Neoplasms, Peripheral Nervous System" EXACT [] synonym: "neoplasms, peripheral nervous system" EXACT [NCIT:C3321] synonym: "Neoplasms, PNS" EXACT [] synonym: "neoplasms, PNS" EXACT [NCIT:C3321] synonym: "Nerve Neoplasm, Peripheral" EXACT [] synonym: "Nerve Neoplasms, Peripheral" EXACT [] synonym: "nerve sheath neoplasm" NARROW [DOID:1192] synonym: "nerve sheath tumors" NARROW [DOID:1192] synonym: "nerve sheath tumours" NARROW OMO:0003005 [] synonym: "Nerve Tumor, Peripheral" EXACT [] synonym: "Nerve Tumors, Peripheral" EXACT [] synonym: "PERIPHERAL NERVE NEOPL" EXACT [] synonym: "PERIPHERAL NERVE NEOPL BENIGN" EXACT [] synonym: "PERIPHERAL NERVE NEOPL INFILTRATION" EXACT [] synonym: "PERIPHERAL NERVE NEOPL MALIGNANT" EXACT [] synonym: "Peripheral Nerve Neoplasm" EXACT [] synonym: "peripheral nerve neoplasm" EXACT [NCIT:C3321] synonym: "Peripheral Nerve Neoplasms" EXACT [] synonym: "Peripheral Nerve Neoplasms, Benign" EXACT [] synonym: "Peripheral Nerve Neoplasms, Malignant" EXACT [] synonym: "Peripheral Nerve Neoplastic Infiltration" EXACT [] synonym: "Peripheral Nerve Tumor" EXACT [] synonym: "peripheral nerve tumor" EXACT [NCIT:C3321] synonym: "Peripheral Nerve Tumors" EXACT [] synonym: "peripheral nerve tumour" EXACT OMO:0003005 [] synonym: "Peripheral Nervous System Benign Neoplasms" EXACT [] synonym: "peripheral nervous system cancer" EXACT [] synonym: "Peripheral Nervous System Malignant Neoplasms" EXACT [] synonym: "Peripheral Nervous System Neoplasm" EXACT [] synonym: "peripheral nervous system neoplasm" EXACT [NCIT:C3321] synonym: "peripheral nervous system neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "peripheral nervous system neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "Peripheral Nervous System Neoplasms" EXACT [] synonym: "Peripheral Nervous System Tumor" EXACT [] synonym: "peripheral nervous system tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3321] synonym: "peripheral nervous system tumour" EXACT OMO:0003005 [] synonym: "PNS BENIGN NEOPL" EXACT [] synonym: "PNS MALIGNANT NEOPL" EXACT [] synonym: "PNS NEOPL" EXACT [] synonym: "PNS Neoplasm" EXACT [] synonym: "PNS neoplasm" EXACT [NCIT:C3321] synonym: "PNS Neoplasms" EXACT [] synonym: "PNS neoplasms" EXACT [NCIT:C3321] synonym: "PNS Tumor" EXACT [] synonym: "PNS tumor" EXACT [NCIT:C3321] synonym: "PNS tumour" EXACT OMO:0003005 [] synonym: "Tumor of Peripheral Nerve" EXACT [] synonym: "tumor of peripheral nerve" EXACT [NCIT:C3321] synonym: "Tumor of Peripheral Nervous System" EXACT [] synonym: "tumor of peripheral nervous system" EXACT [MONDO:patterns/neoplasm, NCIT:C3321] synonym: "Tumor of PNS" EXACT [] synonym: "tumor of PNS" EXACT [DOID:1192, NCIT:C3321] synonym: "Tumor of the Peripheral Nerve" EXACT [] synonym: "tumor of the peripheral nerve" EXACT [NCIT:C3321] synonym: "Tumor of the Peripheral Nervous System" EXACT [] synonym: "tumor of the peripheral nervous system" EXACT [NCIT:C3321] synonym: "Tumor of the PNS" EXACT [] synonym: "tumor of the PNS" EXACT [NCIT:C3321] synonym: "Tumor, Peripheral Nerve" EXACT [] synonym: "Tumors, Peripheral Nerve" EXACT [] synonym: "tumour of peripheral nerve" EXACT OMO:0003005 [] synonym: "tumour of peripheral nervous system" EXACT OMO:0003005 [] synonym: "tumour of PNS" EXACT OMO:0003005 [] synonym: "tumour of the peripheral nerve" EXACT OMO:0003005 [] synonym: "tumour of the peripheral nervous system" EXACT OMO:0003005 [] synonym: "tumour of the PNS" EXACT OMO:0003005 [] xref: DOID:1192 {source="MONDO:equivalentTo"} xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D010524 {source="MONDO:equivalentTo", source="DOID:1192"} xref: MeSH:D010524 xref: MONDO:0001406 xref: NCIT:C3321 {source="MONDO:equivalentTo", source="DOID:1192"} xref: NCIt:C3321 xref: ONCOTREE:PNS {source="MONDO:equivalentTo"} xref: SCTID:126980002 {source="MONDO:equivalentTo", source="DOID:1192"} xref: SNOMEDCT:126980002 xref: UMLS:C0031118 {source="MONDO:equivalentTo", source="NCIT:C3321", source="DOID:1192"} is_a: EFO:0009387 {source="MESH:D010524", source="MONDO:Redundant", source="NCIT:C3321"} ! peripheral nervous system disease is_a: MONDO:0021248 {source="MONDO:Redundant", source="NCIT:C3321"} ! nervous system neoplasm property_value: exactMatch DOID:1192 property_value: exactMatch http://identifiers.org/mesh/D010524 property_value: exactMatch http://identifiers.org/snomedct/126980002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031118 property_value: exactMatch NCIT:C3321 property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002433 name: cumulus-oocyte complex is_a: EFO:0002962 ! animal reproductive system cell relationship: located_in UBERON:0000990 ! reproductive system property_value: definition:citation http://en.wikipedia.org/wiki/Ovulation xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002439 name: mesophyll cell xref: PO:0004006 is_a: PO:0009002 ! plant cell relationship: located_in PO:0025034 ! leaf property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002443 name: obsolete_oocyte def: "A female germ cell that has entered meiosis." [] xref: NCIt:C12598 xref: SNOMEDCT:86082002 xref: ZFA:0009008 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.85" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use CL_0000023 oocyte instead" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/CL_0000023 [Term] id: EFO:0002451 name: HUVEC cell def: "A convenient source of human endothelial cells are those that line the large vein in the umbilical cord which is usually discarded together with the placenta after childbirth. The cells can be removed as a fairly pure suspension by mild enzymatic treatment of the vein followed by some mechanical distraction and will grow relatively easily in culture, retaining their differentiated characteristics for several passages." [] synonym: "human umbilical vein endothelial cell" EXACT [] synonym: "HUVEC" EXACT [] xref: BTO:0001949 is_a: CL:0000115 ! endothelial cell relationship: located_in UBERON:0002066 ! umbilical vein property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002454 name: obsolete_hippocampus CA1 xref: birn_anat:birnlex_1197 xref: MA:0000950 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with UBERON_0003881" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003881 [Term] id: EFO:0002455 name: obsolete_hippocampus CA2 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0003882 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003882 [Term] id: EFO:0002456 name: obsolete_hippocampus CA3 xref: birn_anat:birnlex_1204 xref: MA:0000952 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with UBERON_0003883" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003883 [Term] id: EFO:0002457 name: obsolete_hippocampus CA4 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0003884 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003884 [Term] id: EFO:0002458 name: obsolete_nucleus accumbens core synonym: "Core region of nucleus accumbens" EXACT [] xref: birn_anat:nlx_anat_20090306 xref: FMA:77383 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0012170 label : core of nucleus accumbens" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0012170 [Term] id: EFO:0002459 name: obsolete_nucleus accumbens shell synonym: "Shell region of nucleus accumbens" EXACT [] xref: birn_anat:nlx_anat_20090307 xref: FMA:77387 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0012171 label : shell of nucleus accumbens" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0012171 [Term] id: EFO:0002460 name: hypertrophy def: "Hypertrophy is the increase in the volume of an organ or tissue due to the enlargement of its component cells." [] xref: MedDRA:10020880 xref: MeSH:D006984 xref: NCIt:C3124 xref: SNOMEDCT:56246009 is_a: EFO:0000651 ! phenotype property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002461 name: skeletal system disease def: "A disease involving the skeletal system." [https://orcid.org/0000-0002-6601-2165] def: "Any disease which affects part of the skeletal system." [] subset: rare_grouping synonym: "disease of bone and/or joint" RELATED [] synonym: "disease of skeletal system" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of skeletal system" EXACT [] synonym: "disorder of skeletal system" EXACT [MONDO:patterns/location_top] synonym: "osteoarthropathy" RELATED [] synonym: "skeletal system disease" EXACT [MONDO:patterns/location] synonym: "skeletal system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "skeletal system disorder" EXACT [] {comment="preferred label from MONDO"} xref: ICD10:M43 xref: MONDO:0005172 xref: SCTID:88230002 {source="MONDO:equivalentTo"} xref: UMLS:C0263661 {source="MONDO:equivalentTo"} is_a: EFO:0009676 {source="MONDO:Redundant"} ! musculoskeletal system disease property_value: exactMatch http://identifiers.org/snomedct/88230002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263661 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002462 name: foetal structure is_a: UBERON:0000061 ! anatomical structure [Term] id: EFO:0002463 name: obsolete_geniculate nucleus synonym: "Geniculate nucleus (body structure)" EXACT [] xref: SNOMEDCT:279108008 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001700\nlabel: geniculate ganglion" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001700 [Term] id: EFO:0002464 name: obsolete_hair follicle xref: EV:0100156 xref: MA:0000154 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002073\nlabel: hair follicle" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002073 [Term] id: EFO:0002465 name: obsolete_inferior colliculus xref: MA:0001067 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001946\nlabel: inferior colliculus" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001946 [Term] id: EFO:0002466 name: obsolete_middle temporal gyrus synonym: "Intermediate temporal gyrus" EXACT [] xref: FMA:61906 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002771\nlabel: middle temporal gyrus" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002771 [Term] id: EFO:0002467 name: obsolete_motor cortex property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0001384 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001384 [Term] id: EFO:0002468 name: obsolete_oculomotor nucleus synonym: "Nucleus of oculomotor nerve" EXACT [] synonym: "Nucleus of third cranial nerve" EXACT [] synonym: "Oculomotor nuclear complex" EXACT [] synonym: "Third cranial nerve nucleus" EXACT [] xref: EV:0100250 xref: FMA:54510 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001715\nlabel: oculomotor nuclear complex" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001715 [Term] id: EFO:0002469 name: obsolete_paraventricular nucleus property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0001930 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001930 [Term] id: EFO:0002470 name: obsolete_periaqueductal gray xref: MeSH:D010487 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with UBERON_0003040" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003040 [Term] id: EFO:0002471 name: obsolete_posterior cingulate cortex property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with UBERON_0022353" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0022353 [Term] id: EFO:0002472 name: obsolete_somatomotor cortex synonym: "primary motor cortex" EXACT [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0001384 label : primary motor cortex" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001384 [Term] id: EFO:0002473 name: stamen abscission zone def: "The area of the plant from where the stamen is shed." [] is_a: EFO:0000998 ! plant reproductive system structure relationship: part_of EFO:0000998 ! plant reproductive system structure property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002474 name: obsolete_superior colliculus xref: MA:0001068 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001945\nlabel: superior colliculus" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001945 [Term] id: EFO:0002475 name: obsolete_suprachiasmatic nucleus property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002034\nlabel: suorachiasmatic nucleus" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002034 [Term] id: EFO:0002476 name: obsolete_supraoptic nucleus property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001929\nlabel: supraoptic nucleus" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001929 [Term] id: EFO:0002495 name: obsolete_accelerated neurological senescence property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced by 'neurodegeneration'." xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HP_0002180 [Term] id: EFO:0002496 name: actinic keratosis def: "A precancerous lesion of the skin composed of atypical keratinocytes. It is characterized by the presence of thick, scaly patches of skin. Several histologic variants have been described, including atrophic, acantholytic, and hyperkeratotic variants." [NCIT:P378] def: "An actinic keratosis (ak-TIN-ik ker-uh-TOE-sis) is a rough, scaly patch on your skin that develops from years of exposure to the sun. It's most commonly found on your face, lips, ears, back of your hands, forearms, scalp or neck. Also known as solar keratosis, an actinic keratosis enlarges slowly and usually causes no signs or symptoms other than a patch or small spot on your skin. These lesions take years to develop, usually first appearing in older adults. A small percentage of actinic keratosis lesions can eventually become skin cancer. You can reduce your risk of actinic keratosis by minimizing your sun exposure and protecting your skin from ultraviolet (UV) rays." [] synonym: "actinic (Solar) Keratosis" EXACT [] synonym: "actinic (solar) keratosis" EXACT [DOID:8866, NCIT:C3148] synonym: "actinic keratosis" EXACT [MONDO:ambiguous] synonym: "actinic keratosis" EXACT [] {comment="preferred label from MONDO"} synonym: "actinic keratosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "actinic keratosis (disorder)" EXACT [] synonym: "actinic keratosis (morphologic abnormality)" EXACT [] synonym: "Senile hyperkeratosis" EXACT [] synonym: "Senile hyperkeratosis" RELATED [DOID:8866] synonym: "Senile keratosis" RELATED [NCIT:C3148] synonym: "senile keratosis" RELATED [NCIT:C3148] synonym: "SK - Solar keratosis" EXACT [] synonym: "SK - solar keratosis" EXACT [DOID:8866] synonym: "Solar keratosis" EXACT [] synonym: "solar keratosis" EXACT [DOID:8866] xref: DOID:8866 {source="EFO:0002496", source="MONDO:equivalentTo"} xref: HP:0025127 {source="MONDO:otherHierarchy"} xref: ICD10CM:L57.0 {source="DOID:8866", source="MONDO:equivalentTo"} xref: ICD9:702.0 {source="DOID:8866", source="EFO:0002496"} xref: ICD9:702.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10000614 xref: MESH:D055623 {source="DOID:8866", source="MONDO:equivalentTo"} xref: MONDO:0005173 xref: NCIT:C3148 {source="DOID:8866", source="EFO:0002496", source="MONDO:equivalentTo"} xref: NCIt:C3148 xref: SCTID:201101007 {source="DOID:8866", source="EFO:0002496", source="MONDO:equivalentTo"} xref: SCTID:46795000 {source="DOID:8866", source="MONDO:relatedTo"} xref: SNOMEDCT:201101007 xref: SNOMEDCT:856006 xref: UMLS:C0022602 {source="DOID:8866", source="MONDO:equivalentTo", source="NCIT:C3148"} is_a: EFO:0004198 {source="MONDO:Redundant", source="NCIT:C3148/inferred"} ! skin neoplasm is_a: MONDO:0000611 {source="DOID:8866"} ! pre-malignant neoplasm relationship: EFO:0000784 UBERON:0000014 ! has_disease_location zone of skin property_value: definition:citation http://www.mayoclinic.org/diseases-conditions/actinic-keratosis/basics/definition/con-20030382 xsd:string property_value: exactMatch DOID:8866 property_value: exactMatch http://identifiers.org/mesh/D055623 property_value: exactMatch http://identifiers.org/snomedct/201101007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022602 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L57.0 property_value: exactMatch NCIT:C3148 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000589 "actinic keratosis (disease)" xsd:string [Term] id: EFO:0002497 name: acute hypotension def: "Acute form of hypotension (disease)." [MONDO:patterns/acute] def: "Acute hypotension is a sudden drop in your BP that may be life-threatening." [] synonym: "acute hypotension" EXACT [] {comment="preferred label from MONDO"} synonym: "acute hypotension (disease)" EXACT [] synonym: "hypotension (disease), acute" EXACT [MONDO:patterns/acute] xref: MedDRA:10049705 xref: MONDO:0005174 is_a: EFO:0005251 {source="EFO:0002497", source="MONDO:Entailed", source="MONDO:Redundant"} ! hypotension is_a: MONDO:0020683 ! acute disease property_value: definition:citation http://www.drugs.com/cg/hypotension.html xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0002498 name: aggressive insulitis def: "Insulitis is an inflammatory infiltration of the islets of Langerhans found especially in young patients with recent onset type 1 diabetes." [EFO:0002498] synonym: "aggressive insulitis" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0005175 is_a: EFO:0000540 {source="EFO:0002498"} ! immune system disease is_a: MONDO:0001933 ! endocrine pancreas disorder relationship: EFO:0000784 UBERON:0000006 ! has_disease_location islet of Langerhans property_value: definition:citation http://www.diapedia.org/type-1-diabetes-mellitus/insulitis xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002499 name: anaplastic astrocytoma def: "Anaplastic astrocytoma is a rare, high-grade, malignant glial tumor, histologically characterized by abundance of pleomorphic astrocytes and multiple mitotic figures, often associated with diffuse infiltration of the surrounding tissue, considerable edema and mass effect and involvement of the contralateral brain. Depending on the primary localization of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), seizures, progressive neurological deficits, and/or behavioral changes. The tumor is most commonly localized in the frontal and temporal lobes, brain stem and spinal cord." [Orphanet:251589] subset: ordo_disease {source="Orphanet:251589"} synonym: "anaplastic astrocytoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "anaplastic astrocytoma" EXACT [DOID:3078, NCIT:C9477] synonym: "anaplastic astrocytoma" EXACT [] {comment="preferred label from MONDO"} synonym: "astrocytoma, anaplastic, malignant" EXACT [NCIT:C9477] synonym: "grade III astrocytic neoplasm" EXACT [NCIT:C9477] synonym: "grade III astrocytic tumor" EXACT [DOID:3078, NCIT:C9477] synonym: "grade III astrocytic tumour" EXACT OMO:0003005 [] synonym: "grade III astrocytoma" EXACT [MONDO:0002504, NCIT:C9477] synonym: "malignant astrocytoma" EXACT [NCIT:C9477] xref: DOID:3078 {source="MONDO:equivalentTo"} xref: EFO:0002499 {source="MONDO:equivalentTo"} xref: GARD:0005860 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10:C71.9 {source="ORDO:251589/ntbt", source="Orphanet:251589"} xref: ICDO:9401/3 {source="NCIT:C9477"} xref: MedDRA:10002224 {source="ORDO:251589/e", source="Orphanet:251589"} xref: MedDRA:10002224 {source="Orphanet:251589/e", source="Orphanet:251589"} xref: MedDRA:10060971 {source="ORDO:251589/e", source="Orphanet:251589"} xref: MedDRA:10060971 {source="Orphanet:251589/e", source="Orphanet:251589"} xref: MONDO:0016684 xref: NCIT:C9477 {source="DOID:3078", source="MONDO:equivalentTo"} xref: ONCOTREE:AASTR {source="MONDO:equivalentTo"} xref: Orphanet:251589 {source="MONDO:equivalentTo"} xref: UMLS:C0334579 {source="DOID:3078", source="NCIT:C9477", source="MONDO:equivalentTo", source="ORDO:251589/e", source="Orphanet:251589"} xref: UMLS:C0334579 {source="DOID:3078", source="Orphanet:251589/e", source="NCIT:C9477", source="MONDO:equivalentTo", source="Orphanet:251589"} is_a: EFO:0000272 {source="DOID:3078", source="NCIT:C9477"} ! astrocytoma is_a: MONDO:0016680 {source="NCIT:C9477", source="Orphanet:251589"} ! high grade astrocytic tumor is_a: MONDO:0020633 ! anaplastic cancer property_value: closeMatch http://identifiers.org/meddra/10002224 property_value: closeMatch http://identifiers.org/meddra/10060971 property_value: closeMatch http://identifiers.org/snomedct/55353007 property_value: exactMatch DOID:3078 property_value: exactMatch DOID:3078 property_value: exactMatch http://identifiers.org/meddra/10002224 property_value: exactMatch http://identifiers.org/meddra/10060971 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334579 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334579 property_value: exactMatch NCIT:C9477 property_value: exactMatch NCIT:C9477 property_value: exactMatch Orphanet:251589 [Term] id: EFO:0002500 name: anaplastic oligoastrocytoma def: "An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity." [NCIT:C6959] subset: gard_rare {source="GARD:0010637"} subset: ordo_disease {source="Orphanet:251663"} synonym: "aMOA" EXACT [Orphanet:251663] synonym: "anaplastic mixed glioma" EXACT [NCIT:C6959] synonym: "anaplastic oligoastrocytoma" EXACT [] {comment="preferred label from MONDO"} synonym: "anaplastic oligoastrocytoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "anaplastic oligoastrocytoma" EXACT [NCIT:C6959] synonym: "AOAST" RELATED ABBREVIATION [ONCOTREE:AOAST] synonym: "WHO grade III mixed glioma" EXACT [NCIT:C6959] xref: EFO:0002500 {source="MONDO:equivalentTo"} xref: GARD:0010637 {source="MONDO:equivalentTo"} xref: ICD10:C71.9 {source="ORDO:251663/ntbt", source="Orphanet:251663"} xref: MONDO:0016703 xref: NCIT:C6959 {source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C6959 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:AOAST {source="MONDO:equivalentTo"} xref: Orphanet:251663 {source="MONDO:equivalentTo"} xref: UMLS:C0431108 {source="MONDO:equivalentTo", source="Orphanet:251663", source="ORDO:251663/e", source="NCIT:C6959"} xref: UMLS:C0431108 {source="MONDO:equivalentTo", source="Orphanet:251663", source="Orphanet:251663/e", source="NCIT:C6959"} is_a: EFO:0000630 ! oligoastrocytoma is_a: MONDO:0020633 {source="NCIT:C6959"} ! anaplastic cancer is_a: MONDO:0021640 {source="NCIT:C6959"} ! grade III glioma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431108 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431108 property_value: exactMatch NCIT:C6959 property_value: exactMatch NCIT:C6959 property_value: exactMatch Orphanet:251663 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10637/anaplastic-oligoastrocytoma xsd:anyURI {source="GARD:0010637"} [Term] id: EFO:0002501 name: anaplastic oligodendroglioma def: "A WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity)." [NCIT:C4326] subset: gard_rare {source="GARD:0009472"} subset: ordo_disease {source="Orphanet:251630"} synonym: "anaplastic oligodendroglioma" EXACT [] {comment="preferred label from MONDO"} synonym: "anaplastic oligodendroglioma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "anaplastic oligodendroglioma" EXACT [NCIT:C4326] synonym: "malignant oligodendroglioma" EXACT [NCIT:C4326] synonym: "oligodendroglioma, anaplastic, malignant" EXACT [NCIT:C4326] synonym: "oligodendroglioma, malignant" EXACT [NCIT:C4326] synonym: "undifferentiated oligodendroglioma" EXACT [NCIT:C4326] synonym: "WHO grade III oligodendroglial neoplasm" EXACT [NCIT:C4326] synonym: "WHO grade III oligodendroglial tumor" EXACT [NCIT:C4326] synonym: "WHO grade III oligodendroglial tumour" EXACT OMO:0003005 [] xref: DOID:7154 {source="MONDO:equivalentTo"} xref: EFO:0002501 {source="MONDO:equivalentTo"} xref: GARD:0009472 {source="MONDO:equivalentTo"} xref: ICD10:C71.9 {source="Orphanet:251630"} xref: ICD10:C79.1 {source="ORDO:251630/ntbt"} xref: ICDO:9451/3 {source="NCIT:C4326"} xref: MedDRA:10026659 {source="Orphanet:251630", source="ORDO:251630/e"} xref: MedDRA:10026659 {source="Orphanet:251630", source="Orphanet:251630/e"} xref: MONDO:0016696 xref: NCIT:C4326 {source="MONDO:equivalentTo"} xref: ONCOTREE:AODG {source="MONDO:equivalentTo"} xref: Orphanet:251630 {source="MONDO:equivalentTo"} xref: UMLS:C0334590 {source="MONDO:equivalentTo", source="Orphanet:251630", source="ORDO:251630/e", source="NCIT:C4326"} xref: UMLS:C0334590 {source="MONDO:equivalentTo", source="Orphanet:251630", source="NCIT:C4326", source="Orphanet:251630/e"} is_a: MONDO:0018744 {source="MONDO:Redundant", source="NCIT:C4326", source="Orphanet:251630"} ! oligodendroglial tumor is_a: MONDO:0020633 ! anaplastic cancer is_a: MONDO:0021640 {source="MONDO:Redundant", source="NCIT:C4326"} ! grade III glioma property_value: closeMatch http://identifiers.org/meddra/10026659 property_value: exactMatch DOID:7154 property_value: exactMatch http://identifiers.org/meddra/10026659 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334590 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334590 property_value: exactMatch NCIT:C4326 property_value: exactMatch NCIT:C4326 property_value: exactMatch Orphanet:251630 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9472/anaplastic-oligodendroglioma xsd:anyURI {source="GARD:0009472"} [Term] id: EFO:0002502 name: benign insulitis def: "A benign form of insulitis which is an inflammation of the islets of Langerhans of the pancreas. The pancreas and in some cases the Pancreatic β-cells become infiltrated by polymorphonuclear leukocytes and infiltrated by mononuclear cells, leading to inflammation." [EFO:0002502] def: "a benign form of insulitis which is an inflammation of the islets of Langerhans of the pancreas. The pancreas and in some cases the Pancreatic β-cells become infiltrated by polymorphonuclear leukocytes and infiltrated by mononuclear cells, leading to inflammation." [] comment: Benign insulitis describes the process of benign autoreactive T cells infiltrating islets of langerhans, prior to destructive insulitis. {source="EFO:0002502"} synonym: "benign insulitis" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0005176 xref: PMID:20545565 {source="EFO:0002502"} xref: Wikipedia:Insulitis {source="EFO:0002502"} is_a: EFO:0000540 {source="EFO:0002502"} ! immune system disease is_a: MONDO:0001933 ! endocrine pancreas disorder relationship: EFO:0000784 UBERON:0000006 ! has_disease_location islet of Langerhans property_value: definition:citation "Helen Parkinson" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0002503 name: cardiac hypertrophy def: "an increase in size of the cardiac tissue, not due to increased cell number" [] synonym: "cardiomegaly" EXACT [] synonym: "enlarged heart" EXACT [] synonym: "heart hypertrophy" EXACT [] synonym: "myocardial hypertrophy" EXACT [] xref: ICD9:429.3 xref: MedDRA:10007572 xref: MeSH:D006332 xref: MP:0001625 xref: NCIt:C61453 xref: SNOMEDCT:8186001 is_a: EFO:0002460 ! hypertrophy relationship: characteristic_of UBERON:0000948 ! heart property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002504 name: serous cystadenoma def: "A serous neoplasm in which the cysts and papillae are lined by a single layer of cells without atypia, architectural complexity or invasion." [NCIT:C3783] synonym: "serous cystadenoma" EXACT [] {comment="preferred label from MONDO"} synonym: "serous cystadenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "serous cystadenoma" EXACT [NCIT:C3783] synonym: "serous cystoma" EXACT [NCIT:C3783] xref: EFO:0002504 {source="MONDO:equivalentTo"} xref: ICDO:8441/0 {source="NCIT:C3783"} xref: MONDO:0005177 xref: NCIT:C3783 {source="MONDO:equivalentTo", source="EFO:0002504"} is_a: MONDO:0002369 {source="NCIT:C3783"} ! cystadenoma property_value: closeMatch http://identifiers.org/snomedct/51608009 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0206709 property_value: exactMatch NCIT:C3783 property_value: exactMatch NCIT:C3783 [Term] id: EFO:0002505 name: obsolete_multiple system atrophy def: "A syndrome complex composed of three conditions which represent clinical variants of the same disease process: STRIATONIGRAL DEGENERATION; SHY-DRAGER SYNDROME; and the sporadic form of OLIVOPONTOCEREBELLAR ATROPHIES. Clinical features include autonomic, cerebellar, and basal ganglia dysfunction. Pathologic examination reveals atrophy of the basal ganglia, cerebellum, pons, and medulla, with prominent loss of autonomic neurons in the brain stem and spinal cord (MeSH)." [] synonym: "Multiple system atrophy (disorder)" EXACT [] synonym: "Multiple System Atrophy Syndrome" EXACT [] synonym: "Multisystem Atrophy" EXACT [] synonym: "Multisystemic Atrophy" EXACT [] synonym: "Shy-Drager syndrome" EXACT [] xref: DOID:4752 xref: NIFSTD:birnlex_12573 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_102' instead.\nNew Label : Multiple system atrophy" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_102 [Term] id: EFO:0002506 name: obsolete_osteoarthritis def: "A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans." [] synonym: "Arthritides, Degenerative" EXACT [] synonym: "Arthritis, Degenerative" EXACT [] synonym: "arthrosis" EXACT [] synonym: "Degenerative Arthritides" EXACT [] synonym: "Degenerative Arthritis" EXACT [] synonym: "OA" EXACT [] synonym: "Osteoarthritides" EXACT [] synonym: "Osteoarthroses" EXACT [] synonym: "Osteoarthrosis" EXACT [] synonym: "Osteoarthrosis Deformans" EXACT [] xref: DOID:8398 xref: EV:0400132 xref: HP:0002758 xref: ICD10:M15 xref: ICD10:M19 xref: MedDRA:10031161 xref: MeSH:D010003 xref: NCIt:C3293 xref: OMIM:140600 xref: OMIM:165720 xref: OMIM:607850 xref: OMIM:612400 xref: SNOMEDCT:396275006 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.38.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replaced with Mondo term\nsee https://github.com/ebispot/efo/issues/1381" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/MONDO_0005178 [Term] id: EFO:0002507 name: ovarian adenoma benign def: "A benign adenoma of ovary" [EFO:0002507] synonym: "ovarian adenoma benign" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "ovarian adenoma benign" EXACT [] {comment="preferred label from MONDO"} xref: EFO:0002507 {source="MONDO:equivalentTo"} xref: MONDO:0005179 is_a: EFO:0000232 {source="EFO:0002507"} ! adenoma is_a: EFO:1000116 ! Benign Ovarian Neoplasm is_a: MONDO:0002229 ! ovarian epithelial tumor is_a: MONDO:0036976 ! benign epithelial neoplasm relationship: EFO:0000784 UBERON:0000992 ! has_disease_location ovary [Term] id: EFO:0002508 name: obsolete_Parkinson's disease def: "A neurodegenerative disease that results_from degeneration of the central nervous system that often impairs the sufferer's motor skills, speech, and other functions." [] def: "A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. LEWY BODIES are present in the substantia nigra and locus coeruleus but may also be found in a related condition (LEWY BODY DISEASE, DIFFUSE) characterized by dementia in combination with varying degrees of parkinsonism. (Adams et al., Principles of Neurology, 6th ed, p1059, pp1067-75)" [] synonym: "IDIOPATHIC PARKINSON DIS" EXACT [] synonym: "Idiopathic Parkinson Disease" EXACT [] synonym: "Idiopathic Parkinson's Disease" EXACT [] synonym: "IDIOPATHIC PARKINSONS DIS" EXACT [] synonym: "Idiopathic PD" EXACT [] synonym: "LEWY BODY PARKINSON DIS" EXACT [] synonym: "Lewy Body Parkinson Disease" EXACT [] synonym: "Lewy Body Parkinson's Disease" EXACT [] synonym: "Paralysis agitans" EXACT [] synonym: "PARKINSON DIS" EXACT [] synonym: "PARKINSON DIS IDIOPATHIC" EXACT [] synonym: "Parkinson disease" EXACT [] synonym: "Parkinson Disease, Idiopathic" EXACT [] synonym: "Parkinson syndrome" EXACT [] synonym: "Parkinson's" EXACT [] synonym: "Parkinson's disease (disorder)" EXACT [] synonym: "Parkinson's disease NOS" EXACT [] synonym: "Parkinson's disease NOS (disorder)" EXACT [] synonym: "Parkinson's Disease, Idiopathic" EXACT [] synonym: "Parkinson's Disease, Lewy Body" EXACT [] synonym: "Parkinson's syndrome" EXACT [] synonym: "Parkinsonian disorder" EXACT [] synonym: "Parkinsonism, Primary" EXACT [] synonym: "Parkinsons" EXACT [] synonym: "PARKINSONS DIS" EXACT [] synonym: "PARKINSONS DIS IDIOPATHIC" EXACT [] synonym: "PARKINSONS DIS LEWY BODY" EXACT [] synonym: "Parkinsons disease" EXACT [] synonym: "Primary Parkinsonism" EXACT [] xref: DOID:14330 xref: ICD10:G20 xref: ICD9:332 xref: MedDRA:10061536 xref: MeSH:D010300 xref: NCIt:C26845 xref: NIFSTD:birnlex_2098 xref: OMIM:168600 xref: OMIM:616361 xref: OMIM:616710 xref: SNOMEDCT:49049000 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.38.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replaced with Mondo term\nsee https://github.com/ebispot/efo/issues/1381" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/MONDO_0005180 [Term] id: EFO:0002509 name: progressive external ophthalmoplegia def: "A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)" [MESH:D017246] def: "Progressive external ophthalmoplegia is a condition characterized by weakness of the eye muscles. The condition typically appears in adults between ages 18 and 40. The most common signs and symptoms of progressive external ophthalmoplegia are drooping eyelids (ptosis), which can affect one or both eyelids, and weakness or paralysis of the muscles that move the eye (ophthalmoplegia). Affected individuals may also have general weakness of the skeletal muscles (myopathy), particularly in the neck, arms, or legs. The weakness may be especially noticeable during exercise (exercise intolerance). Muscle weakness may also cause difficulty swallowing (dysphagia)." [] subset: disease_grouping subset: ordo_group_of_disorders synonym: "chronic progressive external ophthalmoplegia" EXACT [] synonym: "chronic progressive external ophthalmoplegia" RELATED [DOID:12558] synonym: "chronic progressive external ophthalmoplegia [Ambiguous]" EXACT [] synonym: "chronic progressive external ophthalmoplegia [ambiguous]" EXACT [DOID:12558] synonym: "PEO" EXACT [] synonym: "PEO syndrome" EXACT [] synonym: "progressive external ophthalmoplegia" EXACT [DOID:12558, ICD9CM:378.72] synonym: "progressive external ophthalmoplegia" EXACT [] {comment="preferred label from MONDO"} synonym: "Progressive external ophthalmoplegia (disorder)" EXACT [] xref: DOID:12558 {source="MONDO:equivalentTo", source="EFO:0002509"} xref: HP:0000590 {source="MONDO:otherHierarchy", source="EFO:0002509"} xref: ICD10CM:H49.4 {source="DOID:12558", source="MONDO:equivalentTo"} xref: ICD9:378.72 {source="DOID:12558", source="EFO:0002509"} xref: MedDRA:10036802 xref: MESH:D017246 {source="DOID:12558", source="MONDO:equivalentTo"} xref: MONDO:0005181 xref: Orphanet:520820 {source="MONDO:equivalentTo"} xref: SCTID:46252003 {source="DOID:12558", source="MONDO:equivalentTo", source="EFO:0002509"} xref: SNOMEDCT:46252003 is_a: MONDO:0009637 {source="DOID:12558", source="MESH:D017246"} ! inborn mitochondrial myopathy property_value: definition:citation http://ghr.nlm.nih.gov/condition/progressive-external-ophthalmoplegia xsd:string property_value: exactMatch DOID:12558 property_value: exactMatch http://identifiers.org/mesh/D017246 property_value: exactMatch http://identifiers.org/snomedct/46252003 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H49.4 property_value: exactMatch Orphanet:520820 property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0002510 name: serous cystadenofibroma def: "A benign neoplasm characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma. Most commonly the primary site is the ovary, but serous cystadenofibromas can occur in the pancreas as well." [PMID:16025006] synonym: "serous cystadenofibroma" EXACT [] {comment="preferred label from MONDO"} synonym: "serous cystadenofibroma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: DOID:7320 {source="MONDO:relatedTo", source="EFO:0002510"} xref: EFO:0002510 {source="MONDO:equivalentTo"} xref: MONDO:0005182 xref: NCIT:C40032 {source="MONDO:relatedTo", source="EFO:0002510"} is_a: EFO:0002424 {source="EFO:0002510"} ! fibroma is_a: EFO:0005771 ! ovarian disease relationship: EFO:0000784 UBERON:0000992 ! has_disease_location ovary [Term] id: EFO:0002511 name: simple cystadenoma def: "A benign ovarian surface epithelial-stromal tumor characterized by the presence of cystic structures lined by serous epithelial cells, mucinous columnar epithelial cells, or endometrial-type well-differentiated cells." [NCIT:C4060] synonym: "benign cystadenoma of ovary" EXACT [NCIT:C4060] synonym: "benign cystadenoma of the ovary" EXACT [NCIT:C4060] synonym: "benign ovarian cystadenoma" EXACT [NCIT:C4060] synonym: "cystadenoma of ovary" EXACT [NCIT:C4060] synonym: "cystadenoma of the ovary" EXACT [NCIT:C4060] synonym: "cystoma serosum simplex" EXACT [DOID:3269, NCIT:C4060] synonym: "ovarian cystadenoma" EXACT [NCIT:C4060] synonym: "ovarian cystadenoma" EXACT [] {comment="preferred label from MONDO"} synonym: "ovarian cystadenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "ovary cystadenoma" EXACT [MONDO:patterns/location] synonym: "simple cystoma of ovary" EXACT [DOID:3269, MTHICD9_2006:620.2, NCIT:C4060] synonym: "simple cystoma of ovary" EXACT [DOID:3269, NCIT:C4060] synonym: "simple cystoma of the ovary" EXACT [NCIT:C4060] synonym: "simple ovarian cystoma" EXACT [NCIT:C4060] xref: DOID:3269 {source="MONDO:equivalentTo", source="EFO:0002511"} xref: EFO:0002511 {source="MONDO:equivalentTo"} xref: ICD9:620.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:620.2 {source="MONDO:relatedTo", source="i2s"} xref: MONDO:0005183 xref: NCIT:C4060 {source="DOID:3269", source="MONDO:equivalentTo", source="EFO:0002511"} xref: NCIT:C4060 {source="DesignPattern", source="DOID:3269", source="MONDO:equivalentTo", source="EFO:0002511"} xref: SCTID:198297004 {source="DOID:3269", source="MONDO:equivalentTo"} xref: UMLS:C0346169 {source="DOID:3269", source="MONDO:equivalentTo", source="NCIT:C4060"} is_a: EFO:0002507 ! ovarian adenoma benign is_a: MONDO:0002369 {source="MONDO:Redundant", source="NCIT:C4060"} ! cystadenoma property_value: exactMatch DOID:3269 property_value: exactMatch DOID:3269 property_value: exactMatch http://identifiers.org/snomedct/198297004 property_value: exactMatch http://identifiers.org/snomedct/198297004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346169 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346169 property_value: exactMatch NCIT:C4060 property_value: exactMatch NCIT:C4060 [Term] id: EFO:0002512 name: obsolete_supranuclear palsy, progressive def: "A degenerative disease of the central nervous system characterized by balance difficulties; OCULAR MOTILITY DISORDERS (supranuclear ophthalmoplegia); DYSARTHRIA; swallowing difficulties; and axial DYSTONIA. Onset is usually in the fifth decade and disease progression occurs over several years. Pathologic findings include neurofibrillary degeneration and neuronal loss in the dorsal MESENCEPHALON; SUBTHALAMIC NUCLEUS; RED NUCLEUS; pallidum; dentate nucleus; and vestibular nuclei (MeSH)." [] synonym: "progressive supranuclear ophthalmoplegia" EXACT [] synonym: "progressive supranuclear ophthalmoplegia (disorder)" EXACT [] synonym: "Progressive Supranuclear Palsy" EXACT [] synonym: "Steele-Richardson-Olszewski Disease" EXACT [] synonym: "Steele-Richardson-Olszewski Syndrome" EXACT [] xref: DOID:678 xref: MeSH:D013494 xref: NIFSTD:birnlex_12697 xref: OMIM:601104 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.33" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate of class http://www.orpha.net/ORDO/Orphanet_683" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_683 [Term] id: EFO:0002513 name: obsolete_alveolus def: "Any of the terminal sacs in the lungs through which gas exchange takes place with the pulmonary capillary blood." [] synonym: "Alveoli" EXACT [] synonym: "alveolus of lung" EXACT [] property_value: definition:citation "C12986" xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0003215\nlabel: alveolus" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003215 [Term] id: EFO:0002514 name: obsolete_corneal stroma def: "The lamellated connective tissue constituting the thickest layer of the cornea between the Bowman and Descemet membranes. (MeSH)" [] xref: MA:0001245 xref: MeSH:D003319 xref: NCIt:C12699 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with UBERON_0001777" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001777 [Term] id: EFO:0002515 name: obsolete_ductus arteriosus synonym: "ductus Botalli" EXACT [] xref: FMA:79871 xref: HP:0001643 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0005440\nlabel: ductus arteriosus" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005440 [Term] id: EFO:0002516 name: obsolete_inferior ganglion of vagus nerve synonym: "Ganglion inferius (Nervus vagus)" EXACT [] synonym: "Inferior ganglion of vagus" EXACT [] synonym: "Nodose ganglion" EXACT [] synonym: "Tenth cranial nerve nodose ganglion" EXACT [] synonym: "Vagus nerve inferior ganglion" EXACT [] synonym: "Vagus nerve nodose ganglion" EXACT [] xref: FMA:6230 xref: MeSH:D009620 xref: SNOMEDCT:14420006 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with UBERON_0005363" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005363 [Term] id: EFO:0002517 name: pancreatic ductal adenocarcinoma def: "An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor." [NCIT:C9120] synonym: "ductal adenocarcinoma of pancreas" EXACT [NCIT:C9120] synonym: "ductal adenocarcinoma of the pancreas" EXACT [DOID:3498, NCIT:C9120] synonym: "malignant neoplasm of duct of Wirsung" EXACT [DOID:3587] synonym: "pancreas ductal adenocarcinoma" EXACT [NCIT:C9120] synonym: "pancreatic duct adenocarcinoma" EXACT [MONDO:patterns/location] synonym: "pancreatic duct cancer" EXACT [DOID:3587] synonym: "pancreatic ductal adenocarcinoma" EXACT [NCIT:C9120] synonym: "pancreatic ductal adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "pancreatic ductal carcinoma" EXACT [MONDO:0002699] synonym: "pancreatic tubular adenocarcinoma" RELATED [NCIT:C9120] synonym: "PDAC" EXACT [] xref: DOID:3498 {source="MONDO:equivalentTo", source="EFO:0002517"} xref: DOID:3587 {source="MONDO:equivalentTo", source="EFO:0002517"} xref: ICD9:157.3 {source="DOID:3587"} xref: MESH:D021441 {source="DOID:3587", source="MONDO:equivalentTo"} xref: MONDO:0005184 xref: NCIT:C9120 {source="DOID:3498", source="MONDO:equivalentTo", source="EFO:0002517"} xref: NCIt:C9120 xref: UMLS:C0887833 {source="DOID:3587", source="MONDO:equivalentTo"} xref: UMLS:C1335302 {source="DOID:3498", source="MONDO:equivalentTo", source="NCIT:C9120"} is_a: EFO:1000044 {source="DOID:3498", source="MONDO:Redundant", source="NCIT:C9120"} ! pancreatic adenocarcinoma relationship: EFO:0000784 UBERON:0001264 ! has_disease_location pancreas property_value: exactMatch DOID:3498 property_value: exactMatch DOID:3587 property_value: exactMatch http://identifiers.org/mesh/D021441 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0887833 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335302 property_value: exactMatch NCIT:C9120 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0002518 name: raphe magnus is_a: UBERON:0000955 ! brain property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002519 name: vegetative apex is_a: PO:0025131 ! plant anatomical entity property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002520 name: neurointermediate lobe is_a: UBERON:0000955 ! brain property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002521 name: obsolete_cerebral hemisphere def: "Either of the two hollow convoluted lateral halves of the cerebrum." [] xref: BTO:0000231 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001869\nlabel: cerebral hemisphere" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001869 [Term] id: EFO:0002522 name: BTBR mouse synonym: "BTBR" EXACT [] xref: NCIt:C37364 is_a: NCBITaxon:10090 ! Mus musculus property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002523 name: obsolete_preoptic area xref: birn_anat:birnlex_1706 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001928\nlabel: preoptic area" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001928 [Term] id: EFO:0002524 name: obsolete_abdominal aorta synonym: "Abdominal part of aorta" EXACT [] synonym: "aorta, abdominal" EXACT [] synonym: "Descending abdominal aorta" EXACT [] synonym: "Pars abdominalis aortae" EXACT [] xref: FMA:3789 xref: MeSH:D001012 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001516\nlabel: abdominal aorta" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001516 [Term] id: EFO:0002525 name: obsolete_thoracic aorta synonym: "Thoracic part of aorta" EXACT [] xref: FMA:3786 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001515\nlabel: thoracic aorta" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001515 [Term] id: EFO:0002527 name: obsolete_descending thoracic aorta xref: FMA:87217 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002345\nlabel: descending thoracic aorta" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002345 [Term] id: EFO:0002528 name: substantia nigra and ventral tegmental area is_a: UBERON:0002038 ! substantia nigra property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002529 name: INS-1 def: "Pancreatic beta -cell line of rat origin." [] synonym: "INS-1 cell" EXACT [] xref: BTO:0002135 xref: MCC:0000246 is_a: EFO:0002936 ! rat cell line relationship: has_characteristic EFO:0000549 ! insulinoma property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002534 name: fetal blood cell synonym: "Blood (fetal) (MMHCC)" EXACT [] synonym: "Fetal Blood" EXACT [] xref: MeSH:D005312 is_a: CL:0000081 ! blood cell property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002540 name: nestin positive islet-derived progenitor cell xref: PMID: 11246871 is_a: EFO:0002966 ! pancreatic cell relationship: located_in UBERON:0001264 ! pancreas property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002542 name: obsolete_islet cell def: "A pancreatic cell that produces and secretes hormones such as insulin and glucagon." [] def: "An Islet cell is a pancreatic cell that produces and secretes hormones such as insulin and glucagon." [] synonym: "endocrine pancreas cell" EXACT [] xref: NCIt:C32885 property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0000016 label : endocrine pancreas " xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000016 [Term] id: EFO:0002543 name: mouse prenatal xref: NIFSTD:birnlex_484 is_a: EFO:0000399 ! developmental stage relationship: RO:0000057 NCBITaxon:10090 ! has_participant Mus musculus property_value: definition:citation "birnlex_484" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002544 name: plasmodium parasite stage def: "The distinct stages of the life cycle of a protozoon of the genus Plasmodium." [] xref: IDOMAL:0000296 is_a: EFO:0000399 ! developmental stage property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002545 name: obsolete_endoderm def: "A germ layer lying remote from the surface of the embryo that gives rise to internal tissues such as gut." [] xref: BTO:0000800 xref: FMA:69071 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000925\nlabel: endoderm" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000925 [Term] id: EFO:0002546 name: abnormal glucose tolerance def: "An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose." [] xref: HP:0001952 xref: MedDRA:10000137 xref: PMID:15367171 xref: Wikipedia:Impaired_glucose_tolerance is_a: HP:0011014 ! Abnormal glucose homeostasis property_value: external_definition "Impaired glucose tolerance (IGT) is a pre-diabetic state of hyperglycemia that is associated with insulin resistance and increased risk of cardiovascular pathology. IGT may precede type 2 diabetes mellitus by many years. IGT is also a risk factor for mortality. IGT is often used interchangeably with Abnormal Glucose Tolerance." xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002547 name: NOD mouse xref: NCIt:C37417 is_a: NCBITaxon:10090 ! Mus musculus property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002548 name: obsolete_endothelium def: "A layer of epithelium that lines the heart, blood vessels (ENDOTHELIUM, VASCULAR), lymph vessels (ENDOTHELIUM, LYMPHATIC), and the serous cavities of the body." [] def: "Single pavement layer of cells which line the luminal surface of the entire vascular system and regulate the transport of macromolecules and blood components from interstitium to lumen; this function has been most intensively studied in the blood capillaries." [] synonym: "Capillary Endothelium" EXACT [] synonym: "Capillary Endotheliums" EXACT [] synonym: "cardiovascular system endothelium" EXACT [] synonym: "Endothelium, Capillary" EXACT [] synonym: "Endothelium, Vascular" EXACT [] synonym: "Endotheliums" EXACT [] synonym: "Endotheliums, Capillary" EXACT [] synonym: "Endotheliums, Vascular" EXACT [] synonym: "Vascular Endothelium" EXACT [] synonym: "Vascular Endotheliums" EXACT [] xref: MA:0000717 xref: MeSH:D004727 xref: MeSH:D004730 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001986\nlabel: endothelium" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001986 [Term] id: EFO:0002549 name: obsolete_vagus nerve synonym: "Cranial Nerve X" EXACT [] synonym: "Pneumogastric Nerve" EXACT [] synonym: "Tenth Cranial Nerve" EXACT [] xref: NCIt:C12812 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001759\nlabel: vagus nerve" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001759 [Term] id: EFO:0002550 name: obsolete_brachiocephalic artery synonym: "Brachiocephalic trunk" EXACT [] synonym: "Innominate artery" EXACT [] xref: FMA:3932 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001529\nlabel: brachiocephalic artery" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001529 [Term] id: EFO:0002551 name: obsolete_coronary artery def: "A principal artery that originates in the aorta. It supplies blood to the muscular tissue of the heart." [] xref: NCIt:C12843 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001621\nlabel: coronary artery" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001621 [Term] id: EFO:0002552 name: obsolete_renal artery xref: NCIt:C12778 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use: http://purl.obolibrary.org/obo/UBERON_0001184\nlabel: renal artery" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001184 [Term] id: EFO:0002553 name: obsolete_tongue mucosa synonym: "Lingual mucosa" EXACT [] synonym: "Mucosa of tongue" EXACT [] synonym: "Mucous membrane of tongue" EXACT [] xref: FMA:54807 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0005020\nlabel: mucosa of tongue" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005020 [Term] id: EFO:0002554 name: obsolete_gastric fundus synonym: "Fundus gastricus (ventricularis)" EXACT [] synonym: "Fundus of stomach" EXACT [] xref: FMA:14559 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001160\nlabel: fundus of stomach" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001160 [Term] id: EFO:0002555 name: obsolete_pyloric antrum def: "The initial part of the pyloric canal of the stomach. This site contains endocrine cells that produce gastrin and somatostatin." [] synonym: "Antrum Pylori" EXACT [] synonym: "Gastric Antrum" EXACT [] xref: NCIt:C12259 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001165\nlabel: pyloric antrum" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001165 [Term] id: EFO:0002556 name: obsolete_pancreatic duct epithelium synonym: "Epithelium of pancreatic duct" EXACT [] synonym: "Pancreatic ductal epithelium" EXACT [] xref: FMA:67681 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo//UBERON_0009970 label : epithelium of pancreatic duct" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0009970 [Term] id: EFO:0002557 name: pancreatic mesenchyme is_a: EFO:0003861 ! pancreactic component relationship: part_of UBERON:0001264 ! pancreas property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002558 name: obsolete_parotid gland def: "The largest of the three paired salivary glands, located in front of the ear." [] synonym: "Parotid" EXACT [] xref: NCIt:C12427 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001831\nlabel: parotid gland" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001831 [Term] id: EFO:0002559 name: obsolete_ciliary ganglion xref: FMA:6964 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002058\nlabel: ciliary ganglion" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002058 [Term] id: EFO:0002560 name: gastrula 80%-epiboly is_a: UBERON:0000109 ! gastrula stage property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002561 name: embryonic day 8.25 is_a: EFO:0005857 ! mouse embryo stage property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002562 name: embryonic day 11.5 def: "mouse embryo stage at age 11.5 days" [] is_a: EFO:0005857 ! mouse embryo stage property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002563 name: embryonic day 12.5 def: "mouse embryo stage at age 12.5 days" [] is_a: EFO:0005857 ! mouse embryo stage property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002564 name: embryonic day 13.5 def: "mouse embryo stage at age 13.5 days" [] is_a: EFO:0005857 ! mouse embryo stage property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002565 name: embryonic day 14.5 def: "mouse embryo stage at age 14.5 days" [] is_a: EFO:0005857 ! mouse embryo stage property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002566 name: embryonic day 15.5 def: "mouse embryo stage at age 15.5 days" [] is_a: EFO:0005857 ! mouse embryo stage property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002567 name: embryonic day 16.5 def: "mouse embryo stage at age 16.5 days" [] is_a: EFO:0005857 ! mouse embryo stage property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002568 name: embryonic day 17.5 def: "mouse embryo stage at age 17.5 days" [] is_a: EFO:0005857 ! mouse embryo stage property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002569 name: embryonic day 18 def: "mouse embryo stage at age 18 days" [] is_a: EFO:0005857 ! mouse embryo stage property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002570 name: embryonic day 18.5 def: "mouse embryo stage at age 18.5 days" [] is_a: EFO:0005857 ! mouse embryo stage property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002571 name: medical procedure def: "An activity that produces an effect, or that is intended to alter the course of a disease in a patient or population. This is a general term that encompasses the medical, social, behavioral, and environmental acts that can have preventive, therapeutic, or palliative effects." [] synonym: "Intervention" EXACT [] synonym: "Intervention or Procedure" EXACT [] synonym: "Intervention Strategies" EXACT [] synonym: "Interventional" EXACT [] synonym: "interventionDescription" EXACT [] synonym: "Procedure" EXACT [] synonym: "SURGICAL AND MEDICAL PROCEDURES" EXACT [] xref: ICD10:Z41 xref: NCIt:C25218 xref: NCIt:C79751 xref: SNOMEDCT:50731006 is_a: EFO:0002694 ! experimental process property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002572 name: large adipocyte is_a: CL:0000136 ! fat cell property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002573 name: small adipocyte is_a: CL:0000136 ! fat cell property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002574 name: obsolete_definitive endoderm synonym: "Embryonic endoderm" EXACT [] xref: FMA:85519 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0005439\nlabel: definitive endoderm" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005439 [Term] id: EFO:0002575 name: esophageal endoderm is_a: UBERON:0000925 ! endoderm property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002576 name: intestinal endoderm is_a: UBERON:0000925 ! endoderm property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002577 name: liver endoderm is_a: UBERON:0000925 ! endoderm property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002578 name: lung endoderm is_a: UBERON:0000925 ! endoderm property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002579 name: pancreatic endoderm is_a: UBERON:0000925 ! endoderm property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002580 name: stomach endoderm is_a: UBERON:0000925 ! endoderm property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002581 name: pancreatectomy def: "Surgical removal of part or all of the pancreas." [] synonym: "Excision of the Pancreas" EXACT [] synonym: "Pancreas Excision" EXACT [] xref: MeSH:D010180 xref: NCIt:C15294 xref: SNOMEDCT:33149006 is_a: EFO:0002571 ! medical procedure property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002582 name: Theiler stage 11 synonym: "Theiler Stage 11a" EXACT [] is_a: EFO:0002543 ! mouse prenatal property_value: definition:citation "birnlex_7062" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002583 name: Theiler stage 17 is_a: EFO:0002543 ! mouse prenatal property_value: definition:citation "birnlex_7072" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002584 name: Theiler stage 21 is_a: EFO:0002543 ! mouse prenatal property_value: definition:citation "birnlex_7076" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002585 name: Theiler stage 22 is_a: EFO:0002543 ! mouse prenatal property_value: definition:citation "birnlex_7077" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002586 name: Theiler stage 24 is_a: EFO:0002543 ! mouse prenatal property_value: definition:citation "birnlex_7079" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002587 name: Theiler stage 26 is_a: EFO:0002543 ! mouse prenatal property_value: definition:citation "birnlex_7081" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002588 name: Theiler stage 28 def: "Theiler stage 28 is a mouse postnatal stage characterised by postnatal development after a mouse is newly born." [] is_a: EFO:0004390 ! mouse postnatal property_value: definition:citation "birnlex_7083" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002589 name: hepatic schizont def: "A schizont produced in the liver of the vertebrate host." [] synonym: "hepatic schizont stage" EXACT [] xref: IDOMAL:0000322 is_a: EFO:0002544 ! plasmodium parasite stage property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002590 name: ring stage trophozoite def: "A developmental stage of the Plasmodium life cycle found within the erythrocyte, called such because of the shape observed." [] synonym: "ring trophozoite stage" EXACT [] xref: IDOMAL:0000321 is_a: EFO:0002544 ! plasmodium parasite stage property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002591 name: erythrocytic schizont def: "A sporozoan cell that reproduces by schizogony, producing a varied number of daughter trophozoites or merozoites." [] def: "The stage of a sporozoan cell that reproduces by schizogony, producing a varied number of daughter trophozoites or merozoites." [] synonym: "erythrocytic schizont stage" EXACT [] xref: IDOMAL:0000306 is_a: EFO:0002544 ! plasmodium parasite stage property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002592 name: trophozoite def: "A developmental stage of the Plasmodium life cycle found within the erythrocyte." [] synonym: "trophozoite stage" EXACT [] xref: IDOMAL:0000304 is_a: EFO:0002544 ! plasmodium parasite stage property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002593 name: distal renal artery is_a: UBERON:0001184 ! renal artery property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002594 name: proximal renal artery is_a: UBERON:0001184 ! renal artery property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002595 name: obsolete_renal branch of vagus nerve property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FMA_6670 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FMA_6670 [Term] id: EFO:0002596 name: obsolete_carotid artery endothelium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0019189 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0019189 [Term] id: EFO:0002597 name: obsolete_aorta endothelium def: "The layer of cells that lines the lumen of the aorta." [] xref: NCIt:C49190 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0004851\nlabel: aorta endothelium" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0004851 [Term] id: EFO:0002598 name: obsolete_distal portion of anterior interventricular branch of left coronary artery property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FMA_3884 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FMA_3884 [Term] id: EFO:0002599 name: obsolete_distal portion of circumflex branch of left coronary artery property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FMA_3906 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FMA_3906 [Term] id: EFO:0002600 name: obsolete_distal portion of right coronary artery property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FMA_3832 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FMA_3832 [Term] id: EFO:0002601 name: obsolete_proximal portion of anterior interventricular branch of left coronary artery property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FMA_3866 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FMA_3866 [Term] id: EFO:0002602 name: obsolete_proximal portion of circumflex branch of left coronary artery property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FMA_3897 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FMA_3897 [Term] id: EFO:0002603 name: obsolete_proximal portion of right coronary artery property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FMA_3804 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FMA_3804 [Term] id: EFO:0002605 name: gene name is_a: IAO:0000030 ! information entity [Term] id: EFO:0002606 name: obsolete_gene property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.29" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Import gene from sequence ontology instead" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/SO_0000704 [Term] id: EFO:0002607 name: obsolete_experiment xref: NIFSTD:birnlex_2117 property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0002608 name: AIDS dementia def: "A brain disease and is_a HIV encephalopathy that results_in infection in adults located_in brain, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems." [] def: "A HIV encephalopathy and is_a brain disease that results_in infection in adults located_in brain, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems." [] def: "A neurologic condition associated with the ACQUIRED IMMUNODEFICIENCY SYNDROME and characterized by impaired concentration and memory, slowness of hand movements, ATAXIA, incontinence, apathy, and gait difficulties associated with HIV-1 viral infection of the central nervous system. Pathologic examination of the brain reveals white matter rarefaction, perivascular infiltrates of lymphocytes, foamy macrophages, and multinucleated giant cells. (From Adams et al., Principles of Neurology, 6th ed, pp760-1; N Engl J Med, 1995 Apr 6;332(14):934-40)" [MESH:D015526] subset: gard_rare synonym: "Acquired immune deficiency syndrome dementia complex" EXACT [] synonym: "Acquired immune deficiency syndrome dementia complex" RELATED [EFO:0002608, UMLS:C0001849] synonym: "acquired immune deficiency syndrome dementia complex" RELATED [] synonym: "Acquired immune deficiency syndrome-related dementia" RELATED [UMLS:C0001849] synonym: "acquired immune deficiency syndrome-related dementia" RELATED [] synonym: "Acquired-Immune Deficiency Syndrome Dementia Complex" RELATED [MESH:D015526] synonym: "ADC" RELATED ABBREVIATION [GARD:0008250] synonym: "ADC - Acquired immune deficiency syndrome dementia complex" RELATED [UMLS:C0001849] synonym: "AIDS - Acquired immune deficiency syndrome dementia complex" RELATED [UMLS:C0001849] synonym: "AIDS Dementia" RELATED [NCIT:C2864] synonym: "AIDS dementia" EXACT [NCIT:C2864] synonym: "AIDS Dementia Complex" RELATED [MESH:D015526] synonym: "AIDS dementia complex" EXACT [] {comment="preferred label from MONDO"} synonym: "AIDS dementia complex" EXACT [EFO:0002608] synonym: "AIDS Encephalopathies" RELATED [MESH:D015526] synonym: "AIDS Encephalopathy" RELATED [MESH:D015526] synonym: "AIDS RELAT DEMENTIA COMPLEX" RELATED [MESH:D015526] synonym: "AIDS related cognitive impairment" RELATED [GARD:0008250] synonym: "AIDS related Dementia Complex" RELATED [MESH:D015526] synonym: "AIDS with dementia (disorder)" EXACT [] synonym: "AIDS with dementia (disorder)" RELATED [EFO:0002608] synonym: "AIDS-related Dementia Complex" RELATED [MESH:D015526] synonym: "Complex, AIDS Dementia" RELATED [MESH:D015526] synonym: "Complex, AIDS-related Dementia" RELATED [MESH:D015526] synonym: "Dementia associated with acquired immunodeficiency syndrome" RELATED [UMLS:C0001849] synonym: "Dementia associated with AIDS" RELATED [UMLS:C0001849] synonym: "DEMENTIA COMPLEX ACQUIRED IMMUNE DEFIC SYNDROME" RELATED [MESH:D015526] synonym: "DEMENTIA COMPLEX AIDS RELAT" RELATED [MESH:D015526] synonym: "Dementia Complex, Acquired Immune Deficiency Syndrome" RELATED [MESH:D015526] synonym: "Dementia Complex, AIDS" RELATED [MESH:D015526] synonym: "Dementia Complex, AIDS related" RELATED [MESH:D015526] synonym: "Dementia Complex, AIDS-related" RELATED [MESH:D015526] synonym: "Dementia, HIV" RELATED [MESH:D015526] synonym: "Dementias, HIV" RELATED [MESH:D015526] synonym: "Encephalopathies, AIDS" RELATED [MESH:D015526] synonym: "Encephalopathies, HIV" RELATED [MESH:D015526] synonym: "Encephalopathy, AIDS" RELATED [MESH:D015526] synonym: "Encephalopathy, HIV" RELATED [MESH:D015526] synonym: "HIV 1 Associated Cognitive Motor Complex" RELATED [MESH:D015526] synonym: "HIV 1 Cognitive and Motor Complex" RELATED [MESH:D015526] synonym: "HIV ASSOC COGNITIVE MOTOR COMPLEX" RELATED [MESH:D015526] synonym: "HIV associated cognitive and motor complex" EXACT [] synonym: "HIV associated cognitive and motor complex" RELATED [EFO:0002608] synonym: "HIV Associated Cognitive Motor Complex" RELATED [MESH:D015526] synonym: "HIV Dementia" RELATED [MESH:D015526] synonym: "HIV Dementias" RELATED [MESH:D015526] synonym: "HIV encephalitis" EXACT [] synonym: "HIV encephalitis" RELATED [EFO:0002608] synonym: "HIV Encephalopathies" RELATED [MESH:D015526] synonym: "HIV Encephalopathy" RELATED [MESH:D015526] synonym: "HIV-1 Cognitive and Motor Complex" RELATED [MESH:D015526] synonym: "HIV-1-Associated Cognitive Motor Complex" RELATED [MESH:D015526] synonym: "HIV-Associated Cognitive Motor Complex" RELATED [MESH:D015526] synonym: "HIV-associated dementia" EXACT [] synonym: "HIV-associated dementia" RELATED [EFO:0002608] xref: ICD9:294.8 xref: MedDRA:10001510 xref: MESH:D015526 {source="UMLS:C0001849", source="MONDO:equivalentTo"} xref: MeSH:D015526 xref: MONDO:0020689 xref: NCIT:C2864 {source="UMLS:C0001849", source="MONDO:equivalentTo"} xref: NCIt:C2864 xref: SCTID:421529006 {source="UMLS:C0001849", source="MONDO:equivalentTo"} xref: UMLS:C0001849 {source="MONDO:equivalentTo", source="GARD:0008250"} is_a: MONDO:0001627 ! dementia is_a: MONDO:0021674 ! post-viral disorder intersection_of: MONDO:0001627 ! dementia intersection_of: disease_arises_from_feature EFO:0000764 ! HIV infection relationship: characteristic_of UBERON:0000955 ! brain relationship: disease_arises_from_feature EFO:0000764 ! HIV infection relationship: disease_has_feature EFO:0007948 ! HIV-associated neurocognitive disorder relationship: has_characteristic MONDO:0021136 {source="GARD:0008250"} ! rare property_value: exactMatch http://identifiers.org/mesh/D015526 property_value: exactMatch http://identifiers.org/snomedct/421529006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001849 property_value: exactMatch NCIT:C2864 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002609 name: juvenile idiopathic arthritis def: "Juvenile idiopathic arthritis (JIA) is the term used to describe a group of inflammatory articular disorders of unknown cause that begin before the age of 16 and last over 6 weeks. The term juvenile idiopathic arthritis was chosen to signify the absence of any known mechanism underlying the disorder and to highlight the necessity of excluding other types of arthritis occurring in well defined diseases (in particular arthritis occurring in association with infectious, inflammatory and haematooncologic diseases)." [Orphanet:92] def: "Juvenile idiopathic arthritis (JIA), also known as juvenile rheumatoid arthritis (JRA), is the most common form of arthritis in children and adolescents. (Juvenile in this context refers to an onset before age 16, idiopathic refers to a condition with no defined cause, and arthritis is the inflammation of the synovium of a joint.) JIA is an autoimmune, non-infective, inflammatory joint disease of more than 6 weeks duration in children less than 16 years of age. The disease commonly occurs in children from the ages of 7 to 12, but it may occur in adolescents as old as 15 years of age, as well as in infants. It is a subset of arthritis seen in childhood, which may be transient and self-limited or chronic. It differs significantly from arthritis commonly seen in adults (osteoarthritis, rheumatoid arthritis), and other types of arthritis that can present in childhood which are chronic conditions (e.g. psoriatic arthritis and ankylosing spondylitis). Aetiopathology is similar to rheumatoid arthritis but with less marked cartilage erosion, and joint instability and absent rheumatoid factor. JIA affects approximately 1 in 1,000 children in any given year, with about 1 in 10,000 having a more severe form." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:92"} synonym: "acute juvenile rheumatoid arthritis" NARROW [DOID:676] synonym: "Arthritis (juvenile idiopathic)" EXACT [] synonym: "arthritis, juvenile rheumatoid" EXACT [] synonym: "breast myoepithelial carcinoma" EXACT [] synonym: "chronic childhood arthritis" EXACT [] synonym: "JIA" EXACT ABBREVIATION [NCIT:C114357] synonym: "juvenile arthritis" EXACT [] synonym: "juvenile chronic arthritis" RELATED [Orphanet:92] synonym: "Juvenile chronic arthritis (disorder)" EXACT [] synonym: "juvenile chronic polyarthritis" RELATED [DOID:676] synonym: "Juvenile idiopathic arthritis" EXACT [NCIT:C114357] synonym: "juvenile idiopathic arthritis" EXACT [DOID:676] synonym: "juvenile idiopathic arthritis" EXACT [] {comment="preferred label from MONDO"} synonym: "Juvenile idiopathic arthritis (disorder)" EXACT [] synonym: "Juvenile rheumatoid a." EXACT [] synonym: "Juvenile Rheumatoid Arthritis" EXACT [] synonym: "juvenile rheumatoid arthritis" EXACT DEPRECATED [Orphanet:92] synonym: "Juvenile rheumatoid arthritis (disorder)" EXACT [] synonym: "Juvenile rheumatoid arthritis NOS (disorder)" EXACT [] synonym: "Juvenile rheumatoid arthritis, NOS" EXACT [] synonym: "Juvenile seropositive polyarthritis" EXACT [] synonym: "monarticular juvenile rheumatoid arthritis" NARROW [DOID:676] synonym: "pauciarticular juvenile arthritis" NARROW [DOID:676] synonym: "pauciarticular onset juvenile chronic arthritis" NARROW [DOID:676] synonym: "rheumatoid arthritis, systemic juvenile" RELATED [OMIM:604302] synonym: "rheumatoid arthritis, systemic juvenile, susceptibility to" EXACT [OMIM:604302, OMIM:genemap2] synonym: "systemic juvenile rheumatoid arthritis" NARROW [DOID:676, OMIM:604302] xref: DOID:676 {source="MONDO:equivalentTo"} xref: ICD10:M08 xref: ICD10CM:M08.4 {source="DOID:676", source="MONDO:relatedTo", source="Orphanet:92", source="Orphanet:92/btnt"} xref: ICD9:714.3 {source="DOID:676"} xref: ICD9:714.31 {source="DOID:676"} xref: ICD9:714.32 {source="DOID:676", source="MONDO:relatedTo"} xref: ICD9:714.33 {source="DOID:676"} xref: MedDRA:10059176 xref: MedDRA:10059177 {source="Orphanet:92/e", source="Orphanet:92"} xref: MESH:D001171 {source="Orphanet:92/e", source="DOID:676", source="MONDO:equivalentTo", source="Orphanet:92"} xref: MeSH:D001171 xref: MONDO:0011429 xref: NCIT:C114357 {source="MONDO:equivalentTo"} xref: NCIt:C114357 xref: NCIT:C26979 {source="DOID:676", source="MONDO:relatedTo"} xref: NCIt:C27179 xref: OMIM:604302 {source="DOID:676", source="MONDO:equivalentTo"} xref: Orphanet:92 {source="DOID:676", source="MONDO:equivalentTo"} xref: SCTID:410502007 {source="MONDO:equivalentTo"} xref: SCTID:74391003 {source="DOID:676", source="MONDO:relatedTo"} xref: SNOMEDCT:410795001 xref: SNOMEDCT:410796000 xref: UMLS:C0553662 xref: Wikipedia:Juvenile_idiopathic_arthritis is_a: EFO:0005140 ! autoimmune disease is_a: EFO:0005755 {source="Orphanet:92"} ! rheumatic disease is_a: EFO:0005856 {source="DOID:676/inferred", source="MESH:D001171", source="NCIT:C114357"} ! arthritis is_a: EFO:0009714 ! chronic disease is_a: MONDO:0700007 ! idiopathic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015940"} ! rare relationship: has_modifier HP:0011010 ! Chronic property_value: closeMatch http://identifiers.org/meddra/10059177 property_value: exactMatch DOID:676 property_value: exactMatch http://identifiers.org/mesh/D001171 property_value: exactMatch http://identifiers.org/snomedct/410502007 property_value: exactMatch https://omim.org/entry/604302 property_value: exactMatch NCIT:C114357 property_value: exactMatch Orphanet:92 property_value: excluded_subClassOf MONDO:0017021 {source="Orphanet:92"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: EFO:0002610 name: cocaine dependence def: "A drug dependence that is a psychological dependency on the regular use of cocaine." [] def: "A psychologically and socially impaired state, with or without physiological changes, that develops as a result of using cocaine and which leads to compulsive behaviors to acquire the substance." [NCIT:P378] synonym: "Cocaine addiction" EXACT [] synonym: "cocaine addiction" EXACT [NCIT:C34492] synonym: "cocaine dependence" EXACT [] {comment="preferred label from MONDO"} synonym: "Cocaine dependence (disorder)" EXACT [] synonym: "Cocaine dependence, unspecified (disorder)" EXACT [] synonym: "Cocaine dependence, unspecified use" EXACT [] synonym: "Cocaine drug dependence NOS (disorder)" EXACT [] synonym: "Mental and behavioral disorder due to use of cocaine: dependence syndrome (disorder)" EXACT [] xref: DOID:9975 {source="MONDO:equivalentTo", source="EFO:0002610"} xref: ICD10:F14 xref: ICD9:304.2 {source="DOID:9975", source="EFO:0002610"} xref: ICD9:304.20 {source="DOID:9975", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10009817 xref: MedDRA:10009818 xref: MedDRA:10009819 xref: MedDRA:10009820 xref: MedDRA:10009821 xref: MONDO:0005186 xref: NCIT:C34492 {source="DOID:9975", source="MONDO:equivalentTo", source="EFO:0002610"} xref: NCIt:C34492 xref: SCTID:31956009 {source="DOID:9975", source="MONDO:equivalentTo", source="EFO:0002610"} xref: SNOMEDCT:31956009 is_a: EFO:0003890 {source="DOID:9975", source="EFO:0002610", source="MONDO:Redundant", source="NCIT:C34492"} ! drug dependence property_value: exactMatch DOID:9975 property_value: exactMatch http://identifiers.org/snomedct/31956009 property_value: exactMatch NCIT:C34492 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002611 name: obsolete_hereditary breast and ovarian cancer synonym: "BRCA1" EXACT [] synonym: "BRCA2" EXACT [] synonym: "Familiar breast and Ovarian cancer syndrome" EXACT [] synonym: "hereditary breast ovarian cancer" EXACT [] xref: DOID:5683 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_145' instead.\nNew Label : Hereditary breast and ovarian cancer syndrome" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_145 [Term] id: EFO:0002612 name: human herpesvirus 8 infection def: "A gammaherpesvirus that contributes to the development of Kaposi sarcoma." [] def: "An infectious process caused by the human herpesvirus 8. This infection is associated with Kaposi sarcoma." [NCIT:P378] synonym: "HHV-8" EXACT [] synonym: "HHV8" EXACT [] synonym: "HHV8 infection" EXACT [NCIT:C39291] synonym: "Human Herpes Virus 8 Infection" EXACT [] synonym: "Human Herpes Virus 8 infection" EXACT [NCIT:C39291] synonym: "Human Herpesvirus 8 infection" EXACT [NCIT:C39291] synonym: "human herpesvirus 8 infection" EXACT [] {comment="preferred label from MONDO"} synonym: "Kaposi Sarcoma Herpes Virus" EXACT [] synonym: "Kaposi Sarcoma-Associated Herpes Virus" EXACT [] synonym: "Kaposi sarcoma-associated herpesvirus" EXACT [] synonym: "KSHV" EXACT [] synonym: "Virus-HHV8" EXACT [] xref: MedDRA:10066435 xref: MONDO:0005187 xref: NCIT:C39291 {source="MONDO:equivalentTo", source="EFO:0002612"} xref: NCIt:C39291 xref: UMLS:C1512508 {source="MONDO:equivalentTo", source="NCIT:C39291"} is_a: EFO:0007309 ! Herpesviridae infectious disease relationship: RO:0000057 NCBITaxon:37296 ! has_participant Human herpesvirus 8 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1512508 property_value: exactMatch NCIT:C39291 property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002613 name: iatrogenic Kaposi's sarcoma def: "A Kaposi sarcoma that develops after organ transplantation or immunosuppressive treatment." [NCIT:P378] synonym: "iatrogenic Kaposi sarcoma" EXACT [NCIT:C35873] synonym: "iatrogenic Kaposi's sarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "iatrogenic Kaposi's sarcoma" EXACT [NCIT:C35873] synonym: "iatrogenic Kaposi's sarcoma" EXACT [] {comment="preferred label from MONDO"} xref: EFO:0002613 {source="MONDO:equivalentTo"} xref: MONDO:0005188 xref: NCIT:C35873 {source="MONDO:equivalentTo", source="EFO:0002613"} xref: UMLS:C1334149 {source="MONDO:equivalentTo", source="NCIT:C35873"} is_a: EFO:0000558 {source="EFO:0002613", source="NCIT:C35873"} ! Kaposi's sarcoma is_a: MONDO:0043544 ! nosocomial infection intersection_of: EFO:0000558 ! Kaposi's sarcoma intersection_of: has_characteristic MONDO:0100426 ! iatrogenic property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334149 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334149 property_value: exactMatch NCIT:C35873 property_value: exactMatch NCIT:C35873 [Term] id: EFO:0002614 name: insulin resistance def: "diminished effectiveness of insulin in lowering plasma glucose levels" [] synonym: "Drug resistance to insulin (disorder)" EXACT [] synonym: "IR" EXACT [] xref: HP:0000855 xref: MedDRA:10022489 xref: MeSH:D007333 xref: MP:0005331 xref: NCIt:C113101 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002615 name: internal carotid artery stenosis def: "Carotid stenosis is a narrowing or constriction of the inner surface (lumen) of the carotid artery, usually caused by atherosclerosis. The internal carotid artery supplies the brain. Plaque often builds up at that division, and causes a narrowing (stenosis). Pieces of plaque can break off and block the small arteries above in the brain, which causes a stroke. Plaque can also build up at the origin of the carotid artery at the aorta." [EFO:0002615] synonym: "ICA - Internal carotid artery stenosis" EXACT [] synonym: "internal carotid artery stenosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Internal carotid artery stenosis (disorder)" EXACT [] xref: ICD9:433.10 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10081244 xref: MONDO:0005189 xref: SCTID:233964008 {source="MONDO:equivalentTo", source="EFO:0002615"} xref: SNOMEDCT:233964008 xref: Wikipedia:Carotid_artery_stenosis {source="EFO:0002615"} is_a: EFO:0003763 {source="EFO:0002615"} ! cerebrovascular disorder is_a: EFO:0003781 ! carotid artery disease relationship: EFO:0000784 UBERON:0005396 ! has_disease_location carotid artery segment property_value: exactMatch http://identifiers.org/snomedct/233964008 property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002616 name: macroglobulinemia def: "Macroglobulinemia is the presence of increased levels of macroglobulins in the circulating blood. It is a Plasma cell dyscrasia, resembling leukemia, with cells of lymphocytic, plasmacytic, or intermediate morphology, which secrete a monoclonal immunoglobulin M component. There is diffuse infiltration by the malignant cells of the bone marrow and also, in many cases, of the spleen, liver, or lymph nodes. The circulating macroglobulin can produce symptoms of hyperviscosity syndrome: weakness, fatigue, bleeding disorders, and visual disturbances. Peak incidence of macroglobulinemia is in the sixth and seventh decades of life." [EFO:0002616] synonym: "macroglobulinemia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "macroglobulinemia" EXACT [] {comment="preferred label from MONDO"} synonym: "primary macroglobulinemia" EXACT [DOID:9080] synonym: "primary macroglobulinemia" EXACT [DOID:9080, MTHICD9_2006:273.3] xref: COHD:435502 {source="MONDO:equivalentTo"} xref: DOID:9080 {source="MONDO:equivalentTo", source="EFO:0002616"} xref: EFO:0002616 {source="MONDO:equivalentTo"} xref: ICD10:C88.0 {source="DOID:9080", source="MONDO:relatedTo"} xref: ICD10CM:C88.0 {source="DOID:9080", source="MONDO:relatedTo"} xref: ICD9:273.3 {source="DOID:9080", source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0002616"} xref: ICD9:273.3 {source="DOID:9080", source="MONDO:equivalentTo", source="i2s", source="EFO:0002616"} xref: MESH:D008258 {source="DOID:9080", source="MONDO:relatedTo"} xref: MONDO:0005190 xref: NCIT:C3212 {source="MONDO:relatedTo", source="EFO:0002616"} xref: NCIT:C80307 {source="DOID:9080", source="MONDO:relatedTo"} xref: SCTID:190817009 {source="DOID:9080", source="MONDO:equivalentTo", source="EFO:0002616"} xref: UMLS:C0024419 {source="DOID:9080", source="MONDO:relatedTo"} xref: Wikipedia:Macroglobulinemia {source="EFO:0002616"} is_a: MONDO:0002273 {source="DOID:9080"} ! plasma protein metabolism disease property_value: closeMatch http://identifiers.org/snomedct/109981009 property_value: closeMatch http://identifiers.org/snomedct/154750002 property_value: closeMatch http://identifiers.org/snomedct/190014001 property_value: closeMatch http://identifiers.org/snomedct/190818004 property_value: closeMatch http://identifiers.org/snomedct/190821002 property_value: closeMatch http://identifiers.org/snomedct/267503004 property_value: closeMatch http://identifiers.org/snomedct/35562000 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2936755 property_value: closeMatch NCIT:C115212 property_value: exactMatch DOID:9080 property_value: exactMatch DOID:9080 property_value: exactMatch http://identifiers.org/snomedct/190817009 property_value: exactMatch http://identifiers.org/snomedct/190817009 property_value: excluded_subClassOf MONDO:0004959 {source="EFO:0002616"} [Term] id: EFO:0002617 name: metastatic melanoma def: "A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." [NCIT:C8925] synonym: "metastatic malignant melanoma" EXACT [] synonym: "metastatic melanoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "metastatic melanoma" EXACT [] {comment="preferred label from MONDO"} synonym: "metastatic melanoma" EXACT [NCIT:C8925] xref: EFO:0002617 {source="MONDO:equivalentTo"} xref: MONDO:0005191 xref: NCIT:C8925 {source="MONDO:equivalentTo", source="EFO:0002617", source="exact-label-match"} xref: NCIT:C8925 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:0002617"} xref: SCTID:443493003 {source="MONDO:equivalentTo"} xref: UMLS:C0278883 {source="MONDO:equivalentTo"} is_a: EFO:0000756 {source="EFO:0002617", source="MONDO:Redundant", source="NCIT:C8925"} ! melanoma relationship: disease_has_feature EFO:0009709 ! metastatic neoplasm property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0860594 property_value: exactMatch http://identifiers.org/snomedct/443493003 property_value: exactMatch http://identifiers.org/snomedct/443493003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278883 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278883 property_value: exactMatch NCIT:C8925 property_value: exactMatch NCIT:C8925 [Term] id: EFO:0002618 name: pancreatic carcinoma def: "A carcinoma that arises from epithelial cells of the exocrine pancreas" [MONDO:DesignPattern] def: "A carcinoma that arises from epithelial cells of the exocrine pancreas" [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of pancreas" BROAD [NCIT:C3850] synonym: "cancer of the pancreas" BROAD [NCIT:C3850] synonym: "carcinoma of exocrine pancreas" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of pancreas" EXACT [DOID:4905, NCIT:C3850] synonym: "carcinoma of the pancreas" EXACT [NCIT:C3850] synonym: "exocrine cancer" BROAD [DOID:4905, NCIT:C3850] synonym: "exocrine pancreas carcinoma" EXACT [DOID:4905, MONDO:patterns/location, NCIT:C3850] synonym: "exocrine pancreatic carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "exocrine pancreatic carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "pancreas cancer" BROAD [NCIT:C3850] synonym: "pancreas carcinoma" EXACT [NCIT:C3850] synonym: "pancreatic cancer" BROAD [NCIT:C3850] synonym: "pancreatic cancer (not islets)" EXACT [NCIT:C3850] synonym: "pancreatic carcinoma" EXACT [NCIT:C3850] synonym: "pancreatic carcinoma, familial" RELATED [DOID:4905, MESH:C535837] xref: DOID:4905 {source="MONDO:equivalentTo", source="EFO:0002618"} xref: EFO:0002618 {source="MONDO:equivalentTo", source="DOID:4905"} xref: MONDO:0005192 xref: NCIT:C3850 {source="MONDO:equivalentTo", source="DOID:4905", source="EFO:0002618"} xref: OMIM:260350 xref: SCTID:372142002 {source="MONDO:equivalentTo", source="DOID:4905", source="EFO:0002618"} xref: UMLS:C0235974 {source="MONDO:equivalentTo", source="NCIT:C3850", source="DOID:4905"} is_a: EFO:1000218 {source="MONDO:Redundant", source="NCIT:C3850"} ! Digestive System Carcinoma is_a: MONDO:0002116 {source="MONDO:Redundant", source="NCIT:C3850"} ! malignant exocrine pancreas neoplasm relationship: EFO:0000784 UBERON:0001264 ! has_disease_location pancreas property_value: closeMatch http://identifiers.org/mesh/C562463 property_value: closeMatch http://identifiers.org/snomedct/154475002 property_value: closeMatch http://identifiers.org/snomedct/255089009 property_value: closeMatch http://identifiers.org/snomedct/93938001 property_value: exactMatch DOID:4905 property_value: exactMatch DOID:4905 property_value: exactMatch http://identifiers.org/snomedct/372142002 property_value: exactMatch http://identifiers.org/snomedct/372142002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0235974 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0235974 property_value: exactMatch NCIT:C3850 property_value: exactMatch NCIT:C3850 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:0002619 name: obsolete_pituitary adenoma synonym: "adenoma of the Pituitary gland" EXACT [] synonym: "Pituitary adenoma (disorder)" EXACT [] synonym: "Pituitary adenoma - disorder" EXACT [] synonym: "Pituitary adenoma, no ICD-O subtype (morphologic abnormality)" EXACT [] xref: DOID:3829 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_99408' instead.\nNew Label : Pituitary adenoma" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_99408 [Term] id: EFO:0002620 name: obsolete_primary hyperparathyroidism synonym: "familial benign hypercalcemia (disorder)" EXACT [] synonym: "familial primary hyperparathyroidism" EXACT [] synonym: "primary hyperparathyroidism (disorder)" EXACT [] xref: DOID:11202 xref: HP:0008200 xref: OMIM:145980 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.33" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate of class http://www.ebi.ac.uk/efo/EFO_0008519" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0008519 [Term] id: EFO:0002621 name: prostate intraepithelial neoplasia def: "A neoplastic proliferation of the epithelial cells that line the acini and the ducts of the prostate gland. The neoplastic epithelial cells are confined within the acini and the ducts and they do not invade the surrounding prostatic stroma. Morphologically, it is classified as low or high grade." [NCIT:C4064] synonym: "pin" EXACT [NCIT:C4064] synonym: "pin - prostatic intraepithelial neoplasia" EXACT [NCIT:C4064] synonym: "prostate intraepithelial neopl." EXACT [NCIT:C4064] synonym: "prostate intraepithelial neoplasia" EXACT [] {comment="preferred label from MONDO"} synonym: "prostate intraepithelial neoplasia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "prostate intraepithelial neoplasia (pin)" EXACT [NCIT:C4064] synonym: "prostatic intraepithelial neoplasia" EXACT [NCIT:C4064] xref: EFO:0002621 {source="MONDO:equivalentTo"} xref: MESH:D019048 {source="MONDO:equivalentTo", source="EFO:0002621"} xref: MONDO:0005193 xref: MP:0009219 {source="EFO:0002621"} xref: NCIT:C4064 {source="MONDO:equivalentTo", source="EFO:0002621"} xref: SCTID:254901000 {source="MONDO:equivalentTo", source="EFO:0002621"} xref: UMLS:C0282612 {source="NCIT:C4064", source="MONDO:equivalentTo"} is_a: MONDO:0021259 {source="MONDO:Redundant", source="NCIT:C4064"} ! prostate neoplasm is_a: MONDO:0024474 ! intraepithelial neoplasia property_value: exactMatch http://identifiers.org/mesh/D019048 property_value: exactMatch http://identifiers.org/mesh/D019048 property_value: exactMatch http://identifiers.org/snomedct/254901000 property_value: exactMatch http://identifiers.org/snomedct/254901000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0282612 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0282612 property_value: exactMatch NCIT:C4064 property_value: exactMatch NCIT:C4064 [Term] id: EFO:0002622 name: rotavirus infection def: "A Reoviridae infectious disease that results_in inflammation located_in stomach and located_in intestine, has_agent Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain." [] def: "Infection with any of the rotaviruses. Specific infections include human infantile diarrhea, neonatal calf diarrhea, and epidemic diarrhea of infant mice." [MESH:D012400] synonym: "Rotavirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Rotavirus disease or disorder" EXACT [] synonym: "Rotavirus infection" EXACT [] {comment="preferred label from MONDO"} synonym: "Rotavirus infectious disease" EXACT [] xref: ICD9:078.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10067470 xref: MESH:D012400 {source="MONDO:equivalentTo"} xref: MONDO:0005194 xref: SCTID:18624000 {source="MONDO:equivalentTo"} xref: UMLS:C0035869 {source="MONDO:equivalentTo"} is_a: EFO:0000405 ! digestive system disease is_a: MONDO:0100329 ! primary viral infectious disease relationship: EFO:0000784 UBERON:0001007 ! has_disease_location digestive system property_value: exactMatch http://identifiers.org/mesh/D012400 property_value: exactMatch http://identifiers.org/snomedct/18624000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035869 property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002623 name: septic peritonitis def: "Septic peritonitis is an inflammatory condition of the peritoneum that occurs secondary to microbial contamination. This clinically important condition has a wide variety of clinical courses as well as high morbidity and mortality due to secondary multiorgan dysfunction. This article reviews the etiology and pathophysiology of this condition and its diagnosis in small animals; a companion article addresses treatment and prognosis." [EFO:0002623] synonym: "septic peritonitis" EXACT [] {comment="preferred label from MONDO"} xref: MedDRA:10081559 xref: MONDO:0005195 xref: PMID:22911262 {source="EFO:0002623"} xref: Wikipedia:Septic_peritonitis {source="EFO:0002623"} is_a: EFO:0000771 {source="EFO:0002623"} ! bacterial disease is_a: EFO:0008588 ! peritonitis is_a: MONDO:0043424 ! digestive system infectious disorder property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002624 name: obsolete_spinocerebellar ataxia def: "A group of dominantly inherited, predominatly late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop (MeSH)." [] synonym: "Dominantly-Inherited Spinocerebellar Ataxia" EXACT [] synonym: "Spinocerebellar ataxia (disorder)" EXACT [] synonym: "Spinocerebellar Ataxias" EXACT [] synonym: "Spinocerebellar Atrophy" EXACT [] xref: DOID:1441 xref: NIFSTD:birnlex_12648 xref: OMIM:164400 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Reorganised according to Orphanet hierarchy" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0002625 name: obsolete_teratozoospermia def: "presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends" [] synonym: "teratospermia" EXACT [] xref: MP:0005578 xref: SNOMEDCT:236817003 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.22.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replaced by HP:0012864 'Abnormal sperm morphology'." xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HP_0012864 [Term] id: EFO:0002626 name: thymus neoplasm def: "A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma." [NCIT:C3412] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:100100"} synonym: "neoplasm of the Thymus" EXACT [NCIT:C3412] synonym: "neoplasm of Thymus" EXACT [NCIT:C3412] synonym: "neoplasm of thymus" EXACT [MONDO:patterns/neoplasm] synonym: "thymic neoplasm" EXACT [NCIT:C3412] synonym: "thymic tumor" EXACT [MONDO:0015080, NCIT:C3412] synonym: "thymic tumour" EXACT OMO:0003005 [] synonym: "THYMUS" RELATED ABBREVIATION [ONCOTREE:THYMUS] synonym: "Thymus neoplasm" EXACT [NCIT:C3412] synonym: "thymus neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "thymus neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "thymus neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "Thymus tumor" EXACT [NCIT:C3412] synonym: "thymus tumor" EXACT [MONDO:patterns/neoplasm] synonym: "Thymus tumour" EXACT OMO:0003005 [] synonym: "thymus tumour" EXACT OMO:0003005 [] synonym: "tumor of the Thymus" EXACT [NCIT:C3412] synonym: "tumor of Thymus" EXACT [NCIT:C3412] synonym: "tumor of thymus" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of the Thymus" EXACT OMO:0003005 [] synonym: "tumour of Thymus" EXACT OMO:0003005 [] synonym: "tumour of thymus" EXACT OMO:0003005 [] xref: EFO:0002626 {source="MONDO:equivalentTo"} xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:239.89 {source="MONDO:relatedTo", source="i2s"} xref: MONDO:0005197 xref: NCIT:C3412 {source="MONDO:equivalentTo", source="EFO:0002626"} xref: OMIM:274230 xref: ONCOTREE:THYMUS {source="MONDO:equivalentTo"} xref: Orphanet:100100 {source="MONDO:equivalentTo"} xref: SCTID:127231009 {source="MONDO:equivalentTo"} xref: UMLS:C3714644 {source="Orphanet:100100", source="MONDO:equivalentTo", source="NCIT:C3412"} is_a: EFO:0003769 ! endocrine neoplasm is_a: MONDO:0002334 ! hematopoietic and lymphoid system neoplasm is_a: MONDO:0003393 ! thymus gland disorder relationship: EFO:0000784 UBERON:0002370 ! has_disease_location thymus property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0040113 property_value: closeMatch NCIT:C12433 property_value: exactMatch http://identifiers.org/snomedct/127231009 property_value: exactMatch http://identifiers.org/snomedct/127231009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3714644 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3714644 property_value: exactMatch NCIT:C3412 property_value: exactMatch NCIT:C3412 property_value: exactMatch Orphanet:100100 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/neoplasm.yaml [Term] id: EFO:0002627 name: vulvar intraepithelial neoplasia def: "Intraepithelial neoplasia of the vulvar squamous epithelium. There is no evidence of invasion. This category includes vulvar high grade squamous intraepithelial lesion and vulvar intraepithelial neoplasia, differentiated type." [NCIT:P378] subset: ordo_disease {source="Orphanet:137583"} synonym: "intraepithelial neoplasia of the vulva" EXACT [NCIT:C4756] synonym: "intraepithelial neoplasia of vulva" EXACT [NCIT:C4756] synonym: "squamous vulvar intraepithelial neoplasia" EXACT [NCIT:C4756] synonym: "VIN" EXACT ABBREVIATION [NCIT:C4756] synonym: "vulva intraepithelial neoplasia" EXACT [NCIT:C4756] synonym: "vulval intraepithelial neoplasia" EXACT [NCIT:C4756] synonym: "vulvar intraepithelial neoplasia" EXACT [] {comment="preferred label from MONDO"} synonym: "vulvar intraepithelial neoplasia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "vulvar intraepithelial tumor" EXACT [Orphanet:137583] synonym: "vulvar intraepithelial tumour" EXACT OMO:0003005 [] xref: EFO:0002627 {source="MONDO:equivalentTo"} xref: ICD10:D07.1 {source="Orphanet:137583", source="ORDO:137583/ntbt"} xref: MONDO:0005198 xref: NCIT:C4756 {source="MONDO:equivalentTo", source="EFO:0002627"} xref: Orphanet:137583 {source="MONDO:equivalentTo"} xref: UMLS:C0346210 {source="MONDO:equivalentTo", source="Orphanet:137583", source="NCIT:C4756", source="ORDO:137583/e"} xref: UMLS:C0346210 {source="Orphanet:137583/e", source="MONDO:equivalentTo", source="Orphanet:137583", source="NCIT:C4756"} is_a: MONDO:0002195 {source="NCIT:C4756"} ! vulvar squamous neoplasm relationship: EFO:0000784 UBERON:0000997 ! has_disease_location mammalian vulva property_value: closeMatch http://identifiers.org/snomedct/399382009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346210 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346210 property_value: exactMatch NCIT:C4756 property_value: exactMatch NCIT:C4756 property_value: exactMatch Orphanet:137583 [Term] id: EFO:0002628 name: peripartum cardiomyopathy def: "Peripartum cardiomyopathy (PPCM) is an idiopathic, potentially fatal form of dilated cardiomyopathy that develops during the final month of pregnancy or within five months after delivery." [Orphanet:563] def: "Peripartum cardiomyopathy is a rare disorder in which a pregnant woman's heart becomes weakened and enlarged. It develops during the last month of pregnancy, or within 5 months after the baby is born. Cardiomyopathy occurs when there is damage to the heart. As a result, the heart muscle becomes weak and does not pump well. This affects the lungs, liver, and other body systems.\n\nPeripartum cardiomyopathy is a form of dilated cardiomyopathy in which no other cause of heart weakening can be found.\n\nIt may occur in childbearing women of any age, but it is most common after age 30." [] subset: gard_rare subset: ordo_disease {source="Orphanet:563"} synonym: "antepartum peripartum cardiomyopathy" EXACT [DOID:9997] synonym: "Meadows' syndrome" RELATED [GARD:0000220] synonym: "peripartum cardiomyopathy" EXACT [MONDO:0005199] synonym: "peripartum cardiomyopathy" EXACT [] {comment="preferred label from MONDO"} synonym: "Postpartum cardiomyopathy" EXACT [] synonym: "postpartum cardiomyopathy" EXACT [GARD:0000220, Orphanet:563] synonym: "Postpartum cardiomyopathy (disorder)" EXACT [] synonym: "postpartum peripartum cardiomyopathy" EXACT [DOID:9997] synonym: "Puerperal cardiomyopathy" EXACT [] xref: DOID:9997 {source="MONDO:equivalentTo", source="EFO:0002628"} xref: ICD10CM:O90.3 {source="DOID:9997", source="Orphanet:563/e", source="MONDO:equivalentTo", source="Orphanet:563"} xref: ICD9:674.5 {source="DOID:9997", source="EFO:0002628"} xref: ICD9:674.54 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10049430 {source="Orphanet:563/e", source="Orphanet:563"} xref: MONDO:0018920 xref: NCIT:C171602 {source="MONDO:equivalentTo"} xref: Orphanet:563 {source="GARD:0000220", source="MONDO:equivalentTo"} xref: SCTID:62377009 {source="MONDO:equivalentTo", source="EFO:0002628"} xref: SNOMEDCT:62377009 xref: UMLS:C0269972 {source="Orphanet:563/e", source="MONDO:equivalentTo", source="Orphanet:563"} is_a: EFO:0009682 {source="Orphanet:563"} ! pregnancy disorder is_a: EFO:0009683 ! puerperal disorder is_a: MONDO:0016338 {source="Orphanet:563"} ! non-familial dilated cardiomyopathy property_value: closeMatch http://identifiers.org/meddra/10049430 property_value: definition:citation http://www.nlm.nih.gov/medlineplus/ency/article/000188.htm xsd:string property_value: exactMatch DOID:9997 property_value: exactMatch http://identifiers.org/snomedct/62377009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0269972 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/O90.3 property_value: exactMatch NCIT:C171602 property_value: exactMatch Orphanet:563 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002629 name: viral cardiomyopathy def: "An dilated cardiomyopathy caused by infection with Viruses." [MONDO:patterns/specific_infectious_disease_by_agent] def: "Viral cardiomyopathy occurs when viral infections cause myocarditis with a resulting thickening of the myocardium and dilation of the ventricles. These viruses include Coxsackie B and adenovirus, echoviruses, influenza H1N1, Epstein-Barr virus, rubella (German measles virus), varicella (chickenpox virus), mumps, measles, parvoviruses, yellow fever, dengue fever, polio, rabies and the viruses that cause hepatitis A and C" [] synonym: "Dilated cardiomyopathy secondary to viral myocarditis" EXACT [] synonym: "Dilated cardiomyopathy secondary to viral myocarditis (disorder)" EXACT [] synonym: "viral dilated cardiomyopathy" EXACT [] {comment="preferred label from MONDO"} synonym: "Viruses caused dilated cardiomyopathy" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Viruses dilated cardiomyopathy" EXACT [] xref: MedDRA:10068767 xref: MONDO:0005200 xref: SCTID:30496006 {source="MONDO:equivalentTo", source="EFO:0002629"} xref: SNOMEDCT:30496006 xref: UMLS:C0264797 {source="MONDO:equivalentTo"} xref: Wikipedia:Viral_cardiomyopathy {source="EFO:0002629"} is_a: EFO:0000407 {source="EFO:0002629", source="MONDO:Entailed", source="MONDO:Redundant"} ! dilated cardiomyopathy is_a: MONDO:0021674 ! post-viral disorder intersection_of: EFO:0000407 ! dilated cardiomyopathy intersection_of: disease_arises_from_feature EFO:0000763 ! viral disease property_value: exactMatch http://identifiers.org/snomedct/30496006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264797 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002630 name: restrictive cardiomyopathy def: "A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium." [NCIT:C62798] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:217632"} synonym: "Cardiomyopathy, constrictive" EXACT [] synonym: "cardiomyopathy, constrictive" EXACT [DOID:397] synonym: "familial restrictive cardiomyopathy" NARROW [DOID:397] synonym: "primary restrictive cardiomyopathy" EXACT [DOID:397] synonym: "primary restrictive cardiomyopathy (disorder)" EXACT [] synonym: "RCM" EXACT [] synonym: "restrictive cardiomyopathy" EXACT [DOID:397, NCIT:C62798] synonym: "restrictive cardiomyopathy" EXACT [] {comment="preferred label from MONDO"} synonym: "Restrictive cardiomyopathy (disorder)" EXACT [] xref: DOID:397 {source="EFO:0002630", source="MONDO:equivalentTo"} xref: ICD9:425.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10038748 {source="Orphanet:217632/e", source="Orphanet:217632"} xref: MESH:D002313 {source="Orphanet:217632/e", source="MONDO:equivalentTo", source="DOID:397", source="Orphanet:217632"} xref: MONDO:0005201 xref: NCIT:C62798 {source="EFO:0002630", source="MONDO:equivalentTo", source="DOID:397"} xref: NCIt:C62798 xref: Orphanet:217632 {source="MONDO:equivalentTo"} xref: SCTID:415295002 {source="EFO:0002630", source="MONDO:equivalentTo", source="DOID:397"} xref: SNOMEDCT:415295002 xref: UMLS:C0007196 {source="NCIT:C62798", source="Orphanet:217632/e", source="MONDO:equivalentTo", source="DOID:397", source="Orphanet:217632"} is_a: MONDO:0000591 {source="DOID:397", source="Wikipedia:Cardiomyopathy"} ! intrinsic cardiomyopathy property_value: closeMatch http://identifiers.org/meddra/10038748 property_value: exactMatch DOID:397 property_value: exactMatch http://identifiers.org/mesh/D002313 property_value: exactMatch http://identifiers.org/snomedct/415295002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007196 property_value: exactMatch NCIT:C62798 property_value: exactMatch Orphanet:217632 property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002631 name: obsolete_arrhythmogenic right ventricular cardiomyopathy synonym: "Arrhythmogenic right ventricular cardiomyopathy (disorder)" EXACT [] synonym: "Arrhythmogenic right ventricular dysplasia" EXACT [] synonym: "Arrhythmogenic right ventricular dysplasia/cardiomyopathy" EXACT [] synonym: "ARVD/C" EXACT [] xref: OMIM:604400 xref: SNOMEDCT:281170005 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.33" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate of class http://www.orpha.net/ORDO/Orphanet_247" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_247 [Term] id: EFO:0002632 name: obsolete_left ventricular noncompaction synonym: "Left ventricular noncompaction (disorder)" EXACT [] xref: OMIM:609470 xref: SNOMEDCT:427608000 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_54260' instead.\nNew Label : Left ventricular noncompaction" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_54260 [Term] id: EFO:0002658 name: protocol parameter is_a: IAO:0000030 ! information entity [Term] id: EFO:0002659 name: MDCC-MSB1 is_a: EFO:0005292 ! lymphoblastoid cell line [Term] id: EFO:0002660 name: primary cell def: "A cell taken directly from a living organism, which is not immortalized." [] synonym: "primary cell culture" EXACT [] xref: MeSH:D061251 xref: NCIt:C19315 is_a: EFO:0000323 ! cell property property_value: definition:citation http://purl.obolibrary.org/obo/BTO_0001413 xsd:string [Term] id: EFO:0002661 name: dendritic cell-derived intermediate cell is_a: CL:0000988 ! hematopoietic cell relationship: located_in UBERON:0002390 ! hematopoietic system relationship: RO:0001000 CL:0000451 ! derives_from dendritic cell [Term] id: EFO:0002662 name: dendritic cell-derived osteoclast is_a: EFO:0002958 ! experimental cell relationship: RO:0000056 EFO:0002694 ! participates_in experimental process relationship: RO:0001000 CL:0000451 ! derives_from dendritic cell [Term] id: EFO:0002665 name: monocyte-derived intermediate cell is_a: CL:0000988 ! hematopoietic cell relationship: located_in UBERON:0002390 ! hematopoietic system [Term] id: EFO:0002666 name: monocyte-derived osteoclast is_a: EFO:0002958 ! experimental cell relationship: RO:0000056 EFO:0002694 ! participates_in experimental process [Term] id: EFO:0002669 name: ENBREL def: "Etanercept (trade name Enbrel) is a drug that treats autoimmune diseases by interfering with tumor necrosis factor (TNF; a soluble inflammatory cytokine) by acting as a TNF inhibitor. Pfizer describes in a SEC filing that the drug is used to treat rheumatoid, juvenile rheumatoid and psoriatic arthritis, plaque psoriasis and ankylosing spondylitis. Sales reached record $3.3 billion in 2010.[1]\nEtanercept is a fusion protein produced through expression of recombinant DNA. That is, it is a product of a DNA \"construct\" engineered to link the human gene for soluble TNF receptor 2 to the gene for the Fc component of human immunoglobulin G1 (IgG1). Expression of the construct produces a continuous protein \"fusing\" TNF receptor 2 to IgG1. Production of Etanercept is accomplished by the large-scale culturing of cells that have been \"cloned\" to express this recombinant DNA construct." [] synonym: "etanercept" EXACT [] xref: NCIt:C2381 xref: SNOMEDCT:118259007 xref: SNOMEDCT:387045004 is_a: CHEBI:24431 ! chemical entity relationship: has_role EFO:0001899 ! drug role property_value: definition:citation http://en.wikipedia.org/wiki/Etanercept xsd:string [Term] id: EFO:0002671 name: iberin def: "CAS Number: 505-44-2\nMolecular Weight: 163.26\nMolecular Formula: C5H9NOS2\nPurity: ≥97%\nForm: Liquid\nPhysical Appearance: Light yellow liquid\nSMILES: CS(=O)CCCN=C=S" [] xref: MeSH:C082585 is_a: CHEBI:24431 ! chemical entity property_value: definition:citation http://www.scbt.com/datasheet-205718-iberin.html xsd:string [Term] id: EFO:0002673 name: antiprogestin def: "An antiprogestogen, also called an antiprogesterone or in the case of a synthetic agent, an antiprogestin, is a type of hormone antagonist in which that antagonizes or suppresses the actions of progesterone in the body, a sex hormone that plays a role in the menstrual cycle and pregnancy. Antiprogestogens may stop some cancer cells from growing and they are being studied in the treatment of breast cancer.\nAn example of an antiprogestogen is mifepristone.[1][2" [] synonym: "Org 31710" EXACT [] xref: MeSH:C076196 is_a: CHEBI:24431 ! chemical entity relationship: has_role EFO:0001899 ! drug role property_value: IAO:0000117 http://en.wikipedia.org/wiki/Antiprogestin xsd:string [Term] id: EFO:0002674 name: ovalbumin xref: MeSH:D010047 xref: NCIt:C80992 xref: SNOMEDCT:303301007 is_a: CHEBI:24431 ! chemical entity [Term] id: EFO:0002677 name: saline xref: NCIt:C821 is_a: CHEBI:24431 ! chemical entity [Term] id: EFO:0002678 name: tempol def: "4-Hydroxy-TEMPO or TEMPOL, formally 4-hydroxy-2,2,6,6-tetramethylpiperidin-1-oxyl, is a heterocyclic compound. Like the related TEMPO, it is used as a catalyst and chemical oxidant. [edit]Pharmaceutical Applications\n\nLikely at least partially due to its superoxide dismutase activity, TEMPOL shows radioprotective, life-prolonging properties in animal models, suggesting its potential usefulness for treatment of human diseases.[1] It is currently being studied in human subjects for prevention of radiation-induced alopecia.[2]\nThis nitroxide antioxidant or its derivatives are also undergoing prospective clinical studies in several clinical conditions. In addition to radioprotection, these include high blood pressure[3][4] and macular degeneration[5]. A published patent[6] claims other clinical uses for TEMPOL and related compounds. These include treatment of fibrocystic disease of breast, menstrual cramps and their associated symptoms, migraine, hemorrhoids, neuropathic pain, cyclic vomiting syndrome, and peridontitis. The patent also claims treatment of the symptoms of influenza, herpes zoster and herpes simplex.\n[edit]References" [] xref: MeSH:C001803 is_a: CHEBI:24431 ! chemical entity property_value: definition:citation http://en.wikipedia.org/wiki/Tempol xsd:string [Term] id: EFO:0002679 name: urocortin I def: "Urocortin is a protein that in humans is encoded by the UCN gene.[1][2][3] This gene is a member of the sauvagine/corticotropin-releasing factor/urotensin I family. It is structurally related to the corticotropin-releasing factor (CRF) gene and the encoded product is an endogenous ligand for CRF type 2 receptors. In the brain, it may be responsible for the effects of stress on appetite. In spite of the gene family name similarity, the product of this gene has no sequence similarity to urotensin II.[3] Urocortin is a potent anorexigenic peptide of 40 amino acids that induces fed-like motor activity when administered centrally or peripherally in fasted animals. Urocortin belongs to the corticotropin-releasing factor (CRF) family that includes CRF, urotensin I, sauvagine, urocortin II and urocortin III. Urocortin is also a potent and long-lasting hypotensive agent and increases coronary blood flow." [] is_a: CHEBI:36080 ! protein property_value: definition:citation http://en.wikipedia.org/wiki/Urocortin xsd:string [Term] id: EFO:0002680 name: urocortin II def: "Urocortin 2 (Ucn2) is an endogenous peptide in the corticotrophin-releasing factor (CRF) family.[1] Immunohistochemistry analysis of human myocytes has shown greater immunoreactivity of Ucn2 in myocytes of the failing heart compared to those of the healthy heart. Researchers suggest this is a result of an innate mechanism in which Ucn2 acts to improve function of the failing heart [2]. The pathophysiology of heart failure is often a consequence of improper calcium handling and relaxation resulting in a lower cardiac output, decreased blood flow and overall decreased heart function [3]. Infusion of Ucn2 in healthy humans has shown a dose dependent increase in cardiac output, heart rate and left ventricle ejection fraction and a decrease in systemic vascular resistance [4]. Ucn2 has been studied as potential treatment for individuals with heart failure." [] is_a: CHEBI:36080 ! protein property_value: definition:citation http://en.wikipedia.org/wiki/Urocortin_II xsd:string [Term] id: EFO:0002682 name: third instar larva stage is_a: EFO:0005651 ! drosophila developmental stage [Term] id: EFO:0002683 name: floral transition is_a: EFO:0000399 ! developmental stage [Term] id: EFO:0002684 name: obsolete_pupa def: "An intermediate usually quiescent stage of a metamorphic insect (as a bee, moth, or beetle) that occurs between the larva and the imago, is usually enclosed in a cocoon or protective covering, and undergoes internal changes by which larval structures are replaced by those typical of the imago." [] def: "An intermediate usually quiescent stage of a metamorphic insect as a bee, moth, or beetle that occurs between the larva and the imago, is usually enclosed in a cocoon or protective covering, and undergoes internal changes by which larval structures are replaced by those typical of the imago." [] xref: BTO:0001143 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0003143\nlabel pupa" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003143 [Term] id: EFO:0002685 name: obsolete_rosette stage property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Synonym of rosette growth." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0007113 [Term] id: EFO:0002686 name: atopy def: "A genetic predisposition to form IgE antibodies in response to exposure to allergens and therefore, for the development of immediate (type I) hypersensitivity and atopic conditions, such as allergic rhinitis; bronchial asthma, atopic dermatitis, and food allergy. Mutations of specific alleles on the long arm of chromosome 5 have been associated with higher levels of IL-4 and IgE and are known as IL-4 promoter polymorphisms." [NCIT:C41366] def: "Atopy is an exaggerated IgE-mediated immune response; all atopic disorders are type I hypersensitivity disorders. Not all allergic diseases are atopic.\nSource: Merck Manual" [] comment: Editor notes: this is a finding in NCIT synonym: "Atopic Allergy" EXACT [] synonym: "Atopic allergy" RELATED [NCIT:C41366] synonym: "atopic IgE-mediated allergic disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "atopic state" RELATED [] synonym: "atopy" RELATED [] xref: ICD9:995.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10003645 xref: MONDO:0005202 xref: NCIt:C41366 xref: SCTID:115665000 {source="EFO:0002686", source="MONDO:equivalentTo"} xref: SNOMEDCT:115665000 xref: UMLS:C1706410 {source="MONDO:equivalentTo"} is_a: MONDO:0005271 {source="EFO:0002686"} ! allergic disease property_value: exactMatch http://identifiers.org/snomedct/115665000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1706410 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002687 name: ischemia reperfusion injury def: "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the tissue (reperfusion), including swelling; hemorrhage; necrosis; and damage from free radicals. The most common instance is myocardial reperfusion injury." [MESH:D015427] def: "Some of the known risk factors for cardiovascular disease (hypercholesterolaemia, hypertension, and diabetes) appear to exaggerate many of the microvascular alterations elicited by ischaemia and reperfusion (I/R). The inflammatory mediators released as a consequence of reperfusion also appear to activate endothelial cells in remote organs that are not exposed to the initial ischaemic insult. This distant response to I/R can result in leukocyte-dependent microvascular injury that is characteristic of the multiple organ dysfunction syndrome. Adaptational responses to I/R injury have been demonstrated that allow for protection of briefly ischaemic tissues against the harmful effects of subsequent, prolonged ischaemia, a phenomenon called ischaemic preconditioning." [] synonym: "ischaemia reperfusion injury" EXACT [] synonym: "ischemia reperfusion injury" EXACT [] {comment="preferred label from MONDO"} synonym: "myocardial reperfusion injury" EXACT [] xref: MedDRA:10051624 xref: MESH:D015427 {source="MONDO:equivalentTo"} xref: MeSH:D015428 xref: MONDO:0005203 xref: PMID:10685060 {source="EFO:0002687"} is_a: EFO:0000546 {source="https://github.com/monarch-initiative/mondo/issues/1040"} ! injury property_value: exactMatch http://identifiers.org/mesh/D015427 property_value: excluded_subClassOf MONDO:0004995 {source="EFO:0002687", source="EFO:0002687/inferred", source="MESH:D015427/inferred"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0002688 name: obsolete_myelodysplastic syndrome (MDS)-like property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.5" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use EFO_0000198" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000198 [Term] id: EFO:0002689 name: antiphospholipid syndrome def: "A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease." [NCIT:C61283] def: "An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies, including lupus anticoagulant (LAC), anticardiolipin (aCL) antibody, and anti-beta-2glycoprotein I antibody, directed against membrane anionic phospholipids.\n" [] synonym: "antiphospholipid antibody syndrome" EXACT [DOID:2988, Orphanet:80] synonym: "antiphospholipid syndrome" EXACT [DOID:2988] synonym: "antiphospholipid syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Antiphospholipid syndrome (disorder)" EXACT [] synonym: "familial lupus anticoagulant" EXACT [Orphanet:80] synonym: "Hughes syndrome" EXACT [Orphanet:80] synonym: "lupus anticoagulant, familial" RELATED [OMIM:107320] xref: DOID:2988 {source="MONDO:equivalentTo"} xref: ICD10CM:D68.61 {source="MONDO:equivalentTo", source="DOID:2988"} xref: ICD9:279.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10002817 xref: MESH:D016736 {source="MONDO:equivalentTo", source="DOID:2988"} xref: MeSH:D016736 xref: MONDO:8000010 xref: NCIT:C61283 {source="MONDO:equivalentTo", source="DOID:2988"} xref: NCIt:C61283 xref: Orphanet:80 {source="OMIM:107320", source="MONDO:equivalentTo"} xref: SCTID:26843008 {source="MONDO:equivalentTo", source="DOID:2988"} xref: SNOMEDCT:26843008 xref: UMLS:C0085278 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C61283", source="DOID:2988"} is_a: EFO:0005140 ! autoimmune disease is_a: EFO:0005809 {source="DOID:2988", source="MESH:D016736"} ! type II hypersensitivity reaction disease is_a: MONDO:0002254 {source="NCIT:C61283"} ! syndromic disease property_value: definition:citation "antiphospholipid syndrome" xsd:string property_value: exactMatch DOID:2988 property_value: exactMatch http://identifiers.org/mesh/D016736 property_value: exactMatch http://identifiers.org/snomedct/26843008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085278 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D68.61 property_value: exactMatch NCIT:C61283 property_value: exactMatch Orphanet:80 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: EFO:0002690 name: obsolete_systemic lupus erythematosus def: "A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow." [] synonym: "Disease, Libman-Sacks" EXACT [] synonym: "LIBMAN SACKS DIS" EXACT [] synonym: "Libman Sacks Disease" EXACT [] synonym: "Libman-Sacks Disease" EXACT [] synonym: "lupus" EXACT [] synonym: "Lupus Erythematosus Disseminatus" EXACT [] synonym: "Lupus Erythematosus, Systemic" EXACT [] synonym: "SLE" EXACT [] xref: DOID:9074 xref: EV:0400043 xref: ICD10:M32 xref: ICD9:710.0 xref: MedDRA:10042945 xref: MeSH:D008180 xref: NCIt:C3201 xref: OMIM:152700 xref: OMIM:601744 xref: OMIM:605218 xref: OMIM:609939 xref: OMIM:610927 xref: OMIM:612251 xref: OMIM:612253 xref: SNOMEDCT:55464009 property_value: definition:citation "systemic lupus erythematosus" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.47.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replaced by Mondo term.\nSee: https://github.com/EBISPOT/efo/issues/1750\nUse: http://purl.obolibrary.org/obo/MONDO_0007915" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/MONDO_0007915 [Term] id: EFO:0002691 name: retinal ganglion is_a: UBERON:0000045 ! ganglion [Term] id: EFO:0002692 name: ChIP-seq def: "ChIP-seq is an assay in which chromatin immunoprecipitation with high throughput sequencing is used to identify the cistrome of DNA-associated proteins." [] xref: NCIt:C106049 is_a: EFO:0001456 ! DNA assay is_a: EFO:0005032 ! IP-seq relationship: RO:0000057 EFO:0002699 ! has_participant high throughput sequencer property_value: definition:citation http://en.wikipedia.org/wiki/Chip-Sequencing xsd:string property_value: SRA:label "ChIP-Seq (Direct sequencing of chromatin immunoprecipitates)" xsd:string created_by: Helen Parkinson [Term] id: EFO:0002693 name: DNA-seq def: "An assay in which -sequencing technology (e.g. Solexa/454) is used to determine NDNA sequence" [] synonym: "DNA sequencing" EXACT [] is_a: EFO:0001456 ! DNA assay is_a: EFO:0002697 ! assay by high throughput sequencer relationship: OBI:0000293 BFO:0000040 ! has_input material entity relationship: RO:0000057 EFO:0002699 ! has_participant high throughput sequencer property_value: definition:citation "ArrayExpress Production Team" xsd:string [Term] id: EFO:0002694 name: experimental process def: "A process performed as part of an experiment or wider study, i.e. intentionally designed." [] synonym: "Experiment" EXACT [] xref: NCIt:C42790 xref: NIFSTD:birnlex_2117 is_a: EFO:0004542 ! planned process [Term] id: EFO:0002695 name: obsolete_RNA-seq def: "An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, analyse the transcibed regions of the genome, and or to quantitate transcript abundance" [] property_value: definition:citation "ArrayExpress Production Team" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0002696 name: assay by array def: "An assay which uses array based technology to determine information about nucleic acids or proteins" [] synonym: "array assay" EXACT [] is_a: EFO:0002773 ! assay by instrument relationship: RO:0000057 EFO:0002698 ! has_participant array property_value: ArrayExpress:label "Array assay" xsd:string property_value: IAO:0000112 "A gene expression hybridization on an Affymetrix U133 chip" xsd:string [Term] id: EFO:0002697 name: assay by high throughput sequencer def: "An assay which uses high throughput sequencing technology to determine the sequence of nucleic acids" [] synonym: "high throughput sequencing assay" EXACT [] is_a: EFO:0003740 ! assay by sequencer relationship: RO:0000057 EFO:0002699 ! has_participant high throughput sequencer property_value: IAO:0000112 "Solexa sequencing of coding RNA" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0002698 name: array def: "An instrument which consists of nucleic acid or protein molecules bound to a substrate" [] synonym: "microarray" EXACT [] xref: NCIt:C26358 is_a: EFO:0000548 ! instrument created_by: Helen Parkinson [Term] id: EFO:0002699 name: high throughput sequencer def: "A sequencer which supports massively parallel sequencing of nucleic acids." [] is_a: EFO:0003739 ! sequencer property_value: IAO:0000112 "Illumina genome analyzer II" xsd:string created_by: Helen Parkinson [Term] id: EFO:0002701 name: DNA array def: "An array consisting of DNA probes bound to a substrate" [] is_a: EFO:0002698 ! array property_value: definition:citation http://en.wikipedia.org/wiki/DNA_microarray#Uses_and_types xsd:string created_by: Helen Parkinson [Term] id: EFO:0002702 name: protein array def: "A protein array is an array which provides a multiplex approach to identify protein-protein interactions, to identify the substrates of protein kinases, to identify transcription factor protein-activation, or to identify the targets of biologically active small molecules. The array is a substrate (e.g. glass) on which different molecules of protein or specific DNA binding sequences (as capture probes for the proteins) have been affixed at separate locations in an ordered manner thus forming a microscopic array. The most common protein microarray is the antibody microarray, where antibodies are spotted onto the protein chip and are used as capture molecules to detect proteins from cell lysate solutions." [] synonym: "protein binding array" EXACT [] is_a: EFO:0002698 ! array property_value: definition:citation http://en.wikipedia.org/wiki/Protein_microarray xsd:string created_by: Helen Parkinson [Term] id: EFO:0002703 name: SNP array def: "SNP array is an oligonucleotide DNA microarray used to detect polymorphisms in DNA samples." [] is_a: EFO:0010939 ! oligonucleotide DNA microarray created_by: Helen Parkinson [Term] id: EFO:0002704 name: tiling array def: "A tiling array is an array which has short fragments of nucleic acid immobilized on a substrate. These are designed to cover the whole genome of the target species. Tiling arrays are used to determine genome binding in ChIP assays or to identify transcribed regions." [] synonym: "genome tiling array" EXACT [] is_a: EFO:0002701 ! DNA array property_value: definition:citation http://en.wikipedia.org/wiki/Tiling_array xsd:string created_by: Helen Parkinson [Term] id: EFO:0002705 name: HPL1B xref: PMID:9354455 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002706 name: SM1 is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000769 ! Epstein-Barr virus infection relationship: RO:0001000 EFO:0000574 ! derives_from lymphoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002707 name: NT-1 is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002708 name: SCN2.2 def: "A cell line derived from rat suprachiasmatic nucleus." [] is_a: EFO:0002936 ! rat cell line property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string [Term] id: EFO:0002709 name: BxPC-3 def: "Human pancreatic adenocarcinoma cell line, established from a 61 year old human female." [] synonym: "Bx-PC3 cell" EXACT [] synonym: "BxPC-3 cell" EXACT [] synonym: "BxPC3" EXACT [] synonym: "BxPC3 cell" EXACT [] xref: BTO:0001861 xref: CLO:0002065 xref: RRID:CVCL_0186 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002517 ! pancreatic ductal adenocarcinoma property_value: definition:citation "HTL96012" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002710 name: COLO357 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002517 ! pancreatic ductal adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002711 name: F13 comment: Normal pancreatic cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002922 ! normal cell line relationship: has_characteristic PATO:0000461 ! normal property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002712 name: KIF5 def: "A normal pancreas cell line." [] comment: While it is used in studies where pancreatic cell lines are also used, Kif-5 (the preferred name) are foreskin fibroblast.\nAs described in:\nRX PubMed=11238448; DOI=10.1083/jcb.152.5.911;\n\n"Foreskin-derived fibroblasts (Kif-5) were used for coculture experiments. This fibroblast cell line was established previously in our laboratory."\n\n(FGPTO-736) synonym: "Kif-5" EXACT [] is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0002713 name: Panc1 def: "PANC-1 is a human pancreatic cancer cell line isolated from a pancreatic carcinoma of ductal cell origin in a 56-year-old male." [] synonym: "PANC-1" EXACT [] xref: PMID:1140870 xref: Wikipedia:PANC-1 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line relationship: has_characteristic EFO:0002517 ! pancreatic ductal adenocarcinoma relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation https://www.sigmaaldrich.com/catalog/product/sigma/cb_87092802?lang=en®ion=US xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002714 name: Panc89 synonym: "T3M4" EXACT [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002517 ! pancreatic ductal adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002715 name: PancTUI synonym: "PancTu-I" EXACT [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002517 ! pancreatic ductal adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002716 name: Pt45P1 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002517 ! pancreatic ductal adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002717 name: SH-SY5Y xref: BTO:0000793 xref: CLO:0009015 xref: RRID:CVCL_0019 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line property_value: definition:citation "CRL-2266" xsd:string property_value: definition:citation https://www.atcc.org/Products/All/CRL-2266.aspx xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002718 name: hatching long-pec synonym: "Hatching:Long-pec" EXACT [] xref: ZFS:0000033 is_a: EFO:0001298 ! hatching stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002719 name: L2 larva def: "C. elegans second stage larva. At 25 Centigrade, it ranges 25.5-32.5 hours after fertilization, 11.5-18.5 hours after hatch." [] xref: WBls:0000027 is_a: EFO:0007694 ! Caenorhabditis elegans larval stage property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002720 name: L3 larva def: "C. elegans third stage larva. At 25 Centigrade, it ranges 32.5-40 hours after fertilization, 18.5-26 hours after hatch." [] xref: WBls:0000035 is_a: EFO:0007694 ! Caenorhabditis elegans larval stage [Term] id: EFO:0002721 name: postmenopausal xref: NCIt:C15421 is_a: EFO:0001272 ! adult property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002739 name: B10.NOD_H2g7 def: "C57Bl/10 derived non-diabetic mouse strain expressing H2g7." [] is_a: EFO:0002547 ! NOD mouse property_value: definition:citation https://www.cbil.upenn.edu/RADQuerier/php/sampleInfo.php?assay_id=8649&&study_id=2424 xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002740 name: NOD.scid def: "Nonobese diabetic (NOD) mouse strain which is homozygous for the scid mutation." [] is_a: EFO:0002547 ! NOD mouse property_value: definition:citation http://www.criver.com/fr-FR/ProdServ/ByType/ResModOver/ResMod/Pages/NOD_SCID_mouse_J.aspx xsd:string property_value: definition:citation https://www.cbil.upenn.edu/RADQuerier/php/sampleInfo.php?assay_id=10939&&study_id=3144 xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002741 name: B10.NOD_H2g7_Idd3 def: "C57Bl/10 derived non-diabetic mouse strain expressing H2g7 and Idd3" [] is_a: EFO:0002547 ! NOD mouse property_value: definition:citation https://www.cbil.upenn.edu/RADQuerier/php/sampleInfo.php?assay_id=8647&&study_id=2424 xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002742 name: B6.H2_g7 def: "C57BL/6 congenically expressing H2g7 mouse strain." [] xref: PMID:15356126 is_a: EFO:0000606 ! C57BL/6J property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002743 name: C57BL/6-scid def: "Severe Combined Immunodeficiency (SCID) mutant in C57BL6 genetic background mouse strain." [] is_a: EFO:0000606 ! C57BL/6J property_value: definition:citation https://www.cbil.upenn.edu/RADQuerier/php/sampleInfo.php?assay_id=10943&&study_id=3144 xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002744 name: NOD.B10 def: "C57Bl/10 derived nonobese diabetic (NOD) mouse strain." [] is_a: EFO:0002547 ! NOD mouse property_value: definition:citation https://www.cbil.upenn.edu/RADQuerier/php/displayStudy.php?study_id=2424 xsd:string property_value: definition:citation "Jie Zheng" xsd:string property_value: definition:citation "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002745 name: NOD.B6 def: "C57Bl/6 derived nonobese diabetic (NOD) mouse strain." [] is_a: EFO:0002547 ! NOD mouse property_value: definition:citation https://www.cbil.upenn.edu/RADQuerier/php/displayStudy.php?study_id=2424 xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002746 name: IR (lox/lox) def: "IR(lox/lox) transfection mouse strain maintained on a mixed (C57BL/6 x 129/Sv) genetic background." [] xref: PMID:9844629 is_a: EFO:0000601 ! 129xC57BL/6 property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002747 name: ObOb def: "Mouse strain with deficiency of the leptin gene (ObOb)." [] is_a: NCBITaxon:10090 ! Mus musculus property_value: definition:citation http://www.cbil.upenn.edu/RAD/DGAP/php/displayStudy.php?study_id=2340&&download=1#study2340 xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002748 name: obsolete_tail bud def: "The rapidly proliferating mass of cells at the caudal extremity of the embryo; remnant of the primitive node." [] synonym: "end bud" EXACT [] synonym: "tailbud" EXACT [] xref: BTO:0001445 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002533\nlabel: tail bud" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002533 [Term] id: EFO:0002749 name: undisturbed flow regions def: "Athero-protected regions of aorta." [] is_a: UBERON:0000947 ! aorta property_value: definition:citation https://www.cbil.upenn.edu/RADQuerier/php/displayStudy.php?study_id=449 xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002750 name: disturbed flow regions def: "Athero-susceptible regions of aorta." [] is_a: UBERON:0000947 ! aorta property_value: definition:citation https://www.cbil.upenn.edu/RADQuerier/php/displayStudy.php?study_id=449 xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002751 name: benign def: "For neoplasms, a non-infiltrating and non-metastasizing neoplastic process that is characterized by the absence of morphologic features associated with malignancy (e.g., severe atypia, nuclear pleomorphism, tumor cell necrosis, and abnormal mitoses). For other conditions, a process that is mild in nature and not dangerous to health." [] xref: NCIt:C14172 xref: SNOMEDCT:30807003 is_a: EFO:0000410 ! disease staging property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002752 name: aggressive xref: NCIt:C14138 is_a: EFO:0000410 ! disease staging property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002755 name: diet def: "Regular course of eating and drinking adopted by a person or animal. This does not include DIET THERAPY, a specific diet prescribed in the treatment of a disease." [] def: "The customary allowance of food and drink taken by a person or an animal from day to day, particularly one especially planned to meet specific requirements of the individual, including or excluding certain items of food; a prescribed course of eating and drinking in which the amount and kind of food, as well as the times at which it is to be taken, are regulated for therapeutic purposes or selected with reference to a particular state of health." [] synonym: "Dietary" EXACT [] synonym: "Diets" EXACT [] xref: MeSH:D004032 xref: NCIt:C15222 is_a: EFO:0000355 ! clinical treatment protocol property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002756 name: fasting def: "Abstaining from food." [] synonym: "Fast" EXACT [] xref: MedDRA:10068315 xref: MeSH:D005215 xref: NCIt:C63663 xref: SNOMEDCT:16985007 is_a: GO:0007610 ! behavior property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002757 name: high fat diet synonym: "HF - High fat diet" EXACT [] synonym: "High fat diet (finding)" EXACT [] xref: SNOMEDCT:226097005 is_a: EFO:0002755 ! diet property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002758 name: low fat diet synonym: "Diet - low in fat" EXACT [] synonym: "LF - Low fat diet" EXACT [] synonym: "LFD - Low fat diet" EXACT [] synonym: "Low fat diet (finding)" EXACT [] synonym: "Low fat diet, NOS" EXACT [] xref: SNOMEDCT:16208003 is_a: EFO:0002755 ! diet property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002759 name: methylation profiling by array def: "An assay in which the methylation state of DNA is determined and is compared between samples using array technology" [] is_a: EFO:0000751 ! methylation profiling is_a: EFO:0002696 ! assay by array relationship: RO:0000057 EFO:0002701 ! has_participant DNA array property_value: ArrayExpress:label "Methylation profiling by array" xsd:string property_value: IAO:0000117 "ArrayExpress production team" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002760 name: ChIP-chip by array def: "An assay where chromatin immunoprecipitation (ChIP) is used in combination with microarray technology" [] is_a: EFO:0000748 ! ChIP-Chip is_a: EFO:0002696 ! assay by array relationship: RO:0000057 EFO:0002701 ! has_participant DNA array [Term] id: EFO:0002761 name: methylation profiling by high throughput sequencing def: "An assay in which the methylation state of DNA is determined and is compared between samples using sequencing based technology." [] is_a: EFO:0000751 ! methylation profiling is_a: EFO:0002697 ! assay by high throughput sequencer relationship: RO:0000057 EFO:0002699 ! has_participant high throughput sequencer property_value: ArrayExpress:label "Methylation profiling by high throughput sequencing" xsd:string property_value: IAO:0000117 "ArrayExpress production team" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002762 name: ChIP-chip by tiling array def: "An assay where chromatin immunoprecipitation (ChIP) is used in combination with tiling microarray technology" [] is_a: EFO:0000748 ! ChIP-Chip is_a: EFO:0002696 ! assay by array relationship: RO:0000057 EFO:0002704 ! has_participant tiling array [Term] id: EFO:0002763 name: obsolete_ChIP-seq by high throughput sequencing property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.1" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Consolodated with ChiP-seq EFO_0002692" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0002692 [Term] id: EFO:0002764 name: ChIP-chip by SNP array def: "An assay where chromatin immunoprecipitation (ChIP) is used in combination with SNP microarray technology" [] is_a: EFO:0000748 ! ChIP-Chip is_a: EFO:0002696 ! assay by array relationship: RO:0000057 EFO:0002703 ! has_participant SNP array [Term] id: EFO:0002765 name: proteomic profiling by array def: "An experiment where proteins in a sample are detected, quantified or otherwise analysed, e.g. antibody profiling using an array based technology" [] is_a: EFO:0000746 ! proteomic profiling is_a: EFO:0001458 ! protein assay is_a: EFO:0002696 ! assay by array relationship: RO:0000057 EFO:0002702 ! has_participant protein array property_value: ArrayExpress:label "Proteomic profiling by array" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002766 name: proteomic profiling by mass spectrometer def: "An assay where proteins in a sample are detected, quantified or otherwise analysed using mass spectrometry" [] is_a: EFO:0000746 ! proteomic profiling is_a: EFO:0001458 ! protein assay is_a: EFO:0002774 ! assay by mass spectrometry relationship: RO:0000057 OBI:0000049 ! has_participant mass spectrometer property_value: ArrayExpress:label "Mass spectrometry" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0002767 name: genotyping by array def: "An assay in which an array is used detect polymorphisms in DNA samples" [] is_a: EFO:0000750 ! genotyping is_a: EFO:0001456 ! DNA assay is_a: EFO:0002696 ! assay by array relationship: RO:0000057 EFO:0002701 ! has_participant DNA array property_value: ArrayExpress:label "Genotyping by array" xsd:string [Term] id: EFO:0002768 name: transcription profiling by array def: "An assay in which the transcriptome of a biological sample is analysed using array technology." [] is_a: EFO:0001032 ! transcription profiling is_a: EFO:0001457 ! RNA assay is_a: EFO:0002696 ! assay by array relationship: RO:0000057 EFO:0002701 ! has_participant DNA array property_value: ArrayExpress:label "Transcription profling by array" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002769 name: transcription profiling by tiling array def: "An assay in which the transcriptome of a biological sample is analysed using a tiling path array." [] is_a: EFO:0001032 ! transcription profiling is_a: EFO:0001457 ! RNA assay is_a: EFO:0002696 ! assay by array relationship: RO:0000057 EFO:0002704 ! has_participant tiling array property_value: ArrayExpress:label "Transcription profiling by tiling array" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002770 name: transcription profiling by high throughput sequencing def: "A method used to assess the transcriptome of a biological sample using a high-throughput sequencing platform." [] comment: Old definition:\nAn assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, analyse the transcibed regions of the genome, and or to quantitate transcript abundance\n\nThe current definition was updated by Sira on May 27th, 2016 synonym: "RNA-seq" EXACT [] is_a: EFO:0001032 ! transcription profiling is_a: EFO:0001457 ! RNA assay is_a: EFO:0002697 ! assay by high throughput sequencer relationship: RO:0000057 EFO:0002699 ! has_participant high throughput sequencer property_value: ArrayExpress:label "RNA-seq" xsd:string property_value: definition:citation "ArrayExpress Team" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0002771 name: genotyping by high throughput sequencing def: "An assay in which high throughput sequencing is used to determine the genotype of a DNA sample" [] is_a: EFO:0000750 ! genotyping is_a: EFO:0001456 ! DNA assay is_a: EFO:0002697 ! assay by high throughput sequencer relationship: RO:0000057 EFO:0002699 ! has_participant high throughput sequencer property_value: ArrayExpress:label "Genotyping by high throughput sequencing" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002772 name: assay by molecule is_a: OBI:0000070 ! assay property_value: ArrayExpress:label "Assay by molecule" xsd:string [Term] id: EFO:0002773 name: assay by instrument is_a: OBI:0000070 ! assay property_value: ArrayExpress:label "Assay by technology" xsd:string [Term] id: EFO:0002774 name: assay by mass spectrometry synonym: "mass spectrometry assay" EXACT [] is_a: EFO:0002773 ! assay by instrument relationship: RO:0000057 OBI:0000049 ! has_participant mass spectrometer property_value: ArrayExpress:label "Mass spectrometry assay" xsd:string [Term] id: EFO:0002775 name: aorta smooth muscle synonym: "aortic smooth muscle" EXACT [] synonym: "aortic smooth muscle cell" EXACT [] xref: BTO:0001685 is_a: EFO:0000889 ! smooth muscle [Term] id: EFO:0002776 name: H0287 def: "H0287 is a cell line derived from normal lymphoblastoid cells" [] is_a: EFO:0002922 ! normal cell line is_a: EFO:0005292 ! lymphoblastoid cell line relationship: has_characteristic PATO:0000461 ! normal [Term] id: EFO:0002777 name: Normal Human Astrocytes def: "NHA is a cell line derived from normal (healthy) human astrocyte cells." [] synonym: "NHA" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002922 ! normal cell line is_a: EFO:0002926 ! ENCODE cell line relationship: has_characteristic PATO:0000461 ! normal relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002778 name: BG02ES def: "BG02ES is a cell line dervied from human embryonic stem cells." [] synonym: "BG02" EXACT [] xref: NCIt:C20234 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0003040 ! embryonic cell line is_a: EFO:0005738 ! ESC derived cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002779 name: BJ xref: BTO:0003807 xref: CLO:0001980 xref: RRID:CVCL_3653 is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002922 ! normal cell line is_a: EFO:0002926 ! ENCODE cell line relationship: has_characteristic PATO:0000461 ! normal relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping property_value: definition:citation https://www.atcc.org/products/all/CRL-2522 xsd:string [Term] id: EFO:0002780 name: obsolete_chorion def: "The chorion is one of the membranes that exists during pregnancy between the developing fetus and mother. It is formed by extraembryonic mesoderm and the two layers of trophoblast and surrounds the embryo and other membranes." [] def: "The outer membrane of the two membranes enclosing the embryo in reptiles, birds, and mammals. In placental mammals it contributes to the development of the placenta." [] xref: BTO:0000252 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0003124\nlabel: chorion" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003124 [Term] id: EFO:0002781 name: chorion cell line def: "A chorion cell line is a cell line that is derived from the chorion." [] is_a: CL:0000010 ! cultured cell [Term] id: EFO:0002782 name: glioblastoma H54 def: "Glioblastoma H54 is a cell line derived from" [] synonym: "H54" EXACT [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line relationship: has_characteristic EFO:0000519 ! glioblastoma multiforme relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping property_value: definition:citation http://genome.ucsc.edu/ENCODE/protocols/cell/human/D54_Crawford_protocol.pdf xsd:string property_value: definition:citation https://cansar.icr.ac.uk/cansar/cell-lines/D54/ xsd:string [Term] id: EFO:0002783 name: GM06990 def: "GM06990 is a cell line derived from some lymphoblastoid cells from a CEPH familiy of UTAH/MORMON ethnicity. It is supplied by Corriell under catalogue number GM06990." [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping property_value: definition:citation https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM06990 xsd:string [Term] id: EFO:0002784 name: GM12878 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0004902 ! European HapMap cell line relationship: OBI:0000295 EFO:0002924 ! is_specified_input_of HapMap haplotype mapping relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000383 ! has_quality female relationship: RO:0001000 HANCESTRO:0005 ! derives_from European property_value: definition:citation https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM12878&Product=CC xsd:string [Term] id: EFO:0002785 name: GM12891 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM12891&Product=CC xsd:string [Term] id: EFO:0002786 name: GM12892 def: "A cell line derived from human female B cells." [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM12892&Product=CC xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string [Term] id: EFO:0002787 name: GM18507 def: "A cell line derived from human male lymphoblasts." [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0002933 ! HapMap cell line relationship: OBI:0000295 EFO:0002924 ! is_specified_input_of HapMap haplotype mapping relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM18507&product=CC xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string [Term] id: EFO:0002788 name: GM19238 def: "A cell line derived from human female B cells." [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM19238&Product=CC xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string [Term] id: EFO:0002789 name: GM19239 def: "A cell line derived from human male B cells." [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM19239&Product=CC xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string [Term] id: EFO:0002790 name: GM19240 def: "A cell line derived from human female B cells." [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM19240&Product=CC xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string [Term] id: EFO:0002791 name: HeLa-S3 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0005217 ! cervical adenocarcinoma cell line relationship: has_characteristic EFO:0001416 ! cervical adenocarcinoma relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation https://atcc.org/Products/All/CCL-2.2.aspx?slp=1 xsd:string [Term] id: EFO:0002792 name: HGF def: "A cell line derived from human normal fibroblasts." [] synonym: "Human Gingival Fibroblasts" EXACT [] is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002922 ! normal cell line is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000461 ! has_quality normal property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string [Term] id: EFO:0002793 name: HL-60 def: "HL-60 is a cell line which is the bearer of human acute myeloid leukemia established from the peripheral blood of a 35-year-old woman with acute myeloid leukemia (AML FAB M2) in 1976." [] def: "Human acute myeloid leukemia established from the peripheral blood of a 35-year-old woman with acute myeloid leukemia (AML FAB M2) in 1976." [] synonym: "HL-60 cell" EXACT [] synonym: "HL60" EXACT [] synonym: "HL60 cell" EXACT [] xref: BTO:0000738 xref: CLO:0003775 xref: NCIt:C19433 xref: RRID:CVCL_0002 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000224 ! acute promyelocytic leukemia relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation https://www.sigmaaldrich.com/catalog/product/sigma/cb_98070106?lang=en®ion=US&gclid=EAIaIQobChMIw-Pa7aCq3wIVEMRkCh2bGA2iEAAYAiAAEgKrzPD_BwE xsd:string [Term] id: EFO:0002794 name: HRE synonym: "Human Renal Epithelial cell line" EXACT [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002922 ! normal cell line is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000461 ! has_quality normal [Term] id: EFO:0002795 name: HUVEC cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0005730 ! endothelial cell derived cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping [Term] id: EFO:0002796 name: Jurkat def: "A cell line derived from human T cell acute lymphoblastic leukemia." [] def: "An immortalized human T lymphocyte cell that was derived in the late 1970s from the peripheral blood of a 14-year-old boy with T cell leukemia" [] def: "Human T cell leukemia, established from the peripheral blood of a 14-year-old boy with acute lymphoblastic leukemia (ALL) at first relapse in 1976; often this cell line is called \"JM (JURKAT and JM are derived from the same patient and are sister clones), occasionally JM may be a subclone with somewhat divergent features." [] def: "Human T cell leukemia, established from the peripheral blood of a 14-year-old boy with acute lymphoblastic leukemia (ALL) at first relapse in 1976; often this cell line is called JM (JURKAT and JM are derived from the same patient and are sister clones), occasionally JM may be a subclone with somewhat divergent features." [] synonym: "FCCH1024" EXACT [] synonym: "FHCRC-11" EXACT [] synonym: "JM" EXACT [] synonym: "JM cell" EXACT [] synonym: "JURKAT cell" EXACT [] xref: BTO:0000661 xref: CLO:0007043 xref: RRID:CVCL_0065 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000209 ! T-cell acute lymphoblastic leukemia relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string [Term] id: EFO:0002797 name: LHSR def: "LHSR is a cell line in which human prostate epithelial cells (PrEC) were infected with amphotropic retroviruses encoding the SV40 large T antigen (L), the telomerase catalytic subunit hTERT (H), the SV40 small T antigen (S) and an oncogenic allele of H-ras (R) to create LHSR cells." [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002891 ! prostate derived cell line is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002798 name: NB4 xref: BTO:0002136 xref: CLO:0007947 xref: RRID:CVCL_0005 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000224 ! acute promyelocytic leukemia relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping property_value: definition:citation https://www.dsmz.de/catalogues/details/culture/ACC-207.html xsd:string [Term] id: EFO:0002799 name: NHEK is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping [Term] id: EFO:0002800 name: SAEC def: "SAEC is a cell line derived from Small Airway Epithelial Cells" [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping [Term] id: EFO:0002801 name: SKMC synonym: "Human Skeletal Muscle Cells" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping [Term] id: EFO:0002802 name: SK-N-SH_RA def: "neuroblastoma cell line differentiated w/ retinoic acid" [] is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0005214 ! neuroblastoma cell line relationship: has_characteristic EFO:0000621 ! neuroblastoma relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping [Term] id: EFO:0002803 name: TH-1 is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping [Term] id: EFO:0002804 name: TH-2 is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping [Term] id: EFO:0002805 name: obsolete_pelvis def: "Subdivision of abdomen, which is demarcated from the abdomen proper by the plane of the superior pelvic aperture, and from the perineum by the inferior surface of the pelvic diaphragm; together with the abdomen proper, it constitutes the abdomen. Examples: There is only one pelvis." [] def: "The inferior portion of the trunk of the body, bounded anteriorly and laterally by the two hip bones and posteriorly by the sacrum and coccyx. The pelvis is divided by a plane passing through the terminal lines into the p. major superiorly and the p. minor inferiorly." [] def: "The inferior portion of the trunk of the body, bounded anteriorly and laterally by the two hip bones and posteriorly by the sacrum and coccyx. The pelvis is divided by a plane passing through the terminal lines into the pelvis major superiorly and the pelvis minor inferiorly." [] xref: BTO:0001006 property_value: definition:citation http://sig.biostr.washington.edu/fma3.0#Pelvis xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0003690\nlabel: pelvis" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003690 [Term] id: EFO:0002806 name: obsolete_retroperitoneum property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0003693 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003693 [Term] id: EFO:0002807 name: 4470 is_a: EFO:0002887 ! mouse cell line property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002808 name: 4475 is_a: EFO:0002887 ! mouse cell line property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002809 name: 4483 is_a: EFO:0002887 ! mouse cell line property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002810 name: 1205-Lu def: "A cell line derived from human melanoma." [] is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string [Term] id: EFO:0002811 name: 3T3-F442A def: "Preadipocyte cell line." [] synonym: "3T3-F442A cell" EXACT [] synonym: "F442A" EXACT [] synonym: "F442A cell" EXACT [] xref: BTO:0001169 is_a: EFO:0002887 ! mouse cell line property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002812 name: AB2.2 def: "A cell line derived from murine embryonic stem cells." [] is_a: EFO:0002887 ! mouse cell line is_a: EFO:0005738 ! ESC derived cell line property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string [Term] id: EFO:0002813 name: ABC-1 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: definition:citation "JCRB0815" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002814 name: AZ-521 synonym: "AZ521" EXACT [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000178 ! gastric carcinoma property_value: definition:citation "JCRB0061" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002815 name: BJAB def: "The malignant human B-cell-line BJAB is a EBV-negative Burkitt-like lymphoma cell line." [] synonym: "BJAB cell" EXACT [] xref: BTO:0001931 xref: RRID:CVCL_5711 is_a: BTO:0000164 ! Burkitt lymphoma cell is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000309 ! Burkitts lymphoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002816 name: C3H10T1/2 is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002887 ! mouse cell line is_a: EFO:0003040 ! embryonic cell line property_value: definition:citation https://www.atcc.org/Products/All/CCL-226.aspx xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002817 name: Caco-2/TC7 is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002818 name: CADO ES1 def: "A cell line derived from human 39 s sarcoma." [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000174 ! Ewing sarcoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002819 name: Calu3 xref: BTO:0002750 xref: CLO:0002192 xref: RRID:CVCL_0609 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0001071 ! lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002820 name: CM7-1 def: "A cell line derived from murine embryonic stem cells." [] is_a: EFO:0002887 ! mouse cell line is_a: EFO:0005738 ! ESC derived cell line property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string [Term] id: EFO:0002821 name: CTLL-2 def: "Mouse, C57BL/6, T-lymphocyte cell line." [] synonym: "CTLL-2 cell" EXACT [] xref: BTO:0001482 is_a: EFO:0002887 ! mouse cell line property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002822 name: D10.G4.1 is_a: EFO:0002887 ! mouse cell line property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002823 name: obsolete_H69 def: "Human Caucasian lung small cell carcinoma cell line." [] synonym: "H69 cell" EXACT [] xref: BTO:0000679 property_value: definition:citation "HTB-119" xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.56" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate with EFO_0002300" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0002300 [Term] id: EFO:0002824 name: HCT116 def: "Human colon carcinoma cell line; established from the primary colon carcinoma of an adult man." [] synonym: "HCT-116 cell" EXACT [] synonym: "HCT116 cell" EXACT [] xref: BTO:0002254 xref: CLO:0003665 xref: RRID:CVCL_0291 is_a: BTO:0001616 ! colorectal cancer cell line is_a: BTO:0003250 ! colonic epithelium cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma property_value: definition:citation https://www.atcc.org/products/all/CCL-247.aspx xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002825 name: obsolete_Jurkat def: "Human T cell leukemia, established from the peripheral blood of a 14-year-old boy with acute lymphoblastic leukemia (ALL) at first relapse in 1976; often this cell line is called \"JM (JURKAT and JM are derived from the same patient and are sister clones), occasionally JM may be a subclone with somewhat divergent features." [] xref: BTO:0000661 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.2" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate with EFO_0002796" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0002796 [Term] id: EFO:0002826 name: KS-IMM def: "A KS-IMM is a cell line.\nA KS-IMM is bearer of a Kaposi's sarcoma." [] def: "The tumorigenic KS IMM cell line derives from Kaposi's sarcoma (KS), a highly angiogenic tumor." [] synonym: "KS IMM cell" EXACT [] synonym: "KS-IMM cell" EXACT [] synonym: "KSIMM cell" EXACT [] xref: BTO:0002070 is_a: EFO:0001639 ! cancer cell line relationship: has_characteristic EFO:0000558 ! Kaposi's sarcoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002827 name: LC-1F def: "A cell line derived from human squamous cell lung carcinoma." [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000708 ! squamous cell lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string [Term] id: EFO:0002828 name: Lu135 synonym: "Lu-135" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000702 ! small cell lung carcinoma property_value: definition:citation "JCRB0170" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002829 name: MIN6 def: "A MIN6 is a cell line.\nA MIN6 derives from a mus musculus." [] def: "The murine MIN6 cell line derived from in vivo immortalized insulin-secreting pancreatic beta cells." [] synonym: "MIN-6 cell" EXACT [] synonym: "MIN6 cell" EXACT [] xref: BTO:0002284 is_a: EFO:0002887 ! mouse cell line property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natural Language Generator 8th April 2010" xsd:string [Term] id: EFO:0002830 name: MKN1 def: "Human gastric adenosquamous carcinoma cell line." [] synonym: "MKN-1" EXACT [] synonym: "MKN-1 cell" EXACT [] synonym: "MKN1 cell" EXACT [] xref: BTO:0002384 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000178 ! gastric carcinoma property_value: definition:citation "JCRB0252" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002831 name: MKN28 def: "Well differentiated human gastric adenocarcinoma cell line." [] synonym: "MKN-28" EXACT [] synonym: "MKN-28 cell" EXACT [] synonym: "MKN28 cell" EXACT [] xref: BTO:0002381 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000503 ! gastric adenocarcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation "JCRB0253" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002832 name: MKN45 def: "Human gastric adenocarcinoma, established from the poorly differentiated adenocarcinoma of the stomach (medullary type) of a 62-year-old woman." [] synonym: "MKN-45" EXACT [] synonym: "MKN-45 cell" EXACT [] synonym: "MKN45 cell" EXACT [] xref: BTO:0001225 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000503 ! gastric adenocarcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation "JCRB0254" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002834 name: MKN74 def: "Well differentiated human gastric adenocarcinoma cell line." [] synonym: "MKN-74" EXACT [] synonym: "MKN-74 cell" EXACT [] synonym: "MKN74 cell" EXACT [] xref: BTO:0002383 is_a: EFO:0001639 ! cancer cell line relationship: has_characteristic EFO:0000503 ! gastric adenocarcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation "JCRB0255" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002835 name: MRC5 def: "Homo sapiens (human) lung; fibroblast; normal cell line. The MRC-5 cell line was derived from normal lung tissue of a 14-week-old male fetus by J.P. Jacobs in September of 1966." [] synonym: "MRC-5" EXACT [] synonym: "MRC-5 cell" EXACT [] synonym: "MRC-V" EXACT [] synonym: "MRC-V cell" EXACT [] synonym: "MRC5 cell" EXACT [] xref: BTO:0001590 xref: CLO:0007865 xref: RRID:CVCL_0440 is_a: EFO:0002922 ! normal cell line relationship: has_characteristic PATO:0000461 ! normal relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002836 name: MS-1 synonym: "MS-1-L" EXACT [] is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000702 ! small cell lung carcinoma property_value: definition:citation "JCRB1081" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002837 name: MS428 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000770 ! malignant pleural mesothelioma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002838 name: MS589 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000770 ! malignant pleural mesothelioma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002839 name: MSTO-211H def: "Human mesothelioma cell line; established from the pleural effusion of a 62-year-old Caucasian man with mesothelioma (malignant biphasic) who did not have any prior therapy." [] synonym: "211H cell" EXACT [] synonym: "MSTO-211 H cell" EXACT [] synonym: "MSTO-211H cell" EXACT [] xref: BTO:0002425 is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000588 ! mesothelioma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation "CRL-2081" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002840 name: N231 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000702 ! small cell lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002841 name: NCI-N87 xref: CLO:0008129 xref: RRID:CVCL_1603 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000178 ! gastric carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002842 name: PC-1 is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002843 name: PC-10 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000708 ! squamous cell lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002844 name: PC-14 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002845 name: PC-6 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000702 ! small cell lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002846 name: PC-7 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002847 name: PC-9 synonym: "PC-9S1" EXACT [] xref: BTO:0005518 xref: CLO:0050067 xref: RRID:CVCL_B260 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: definition:citation https://www.sigmaaldrich.com/catalog/product/sigma/cb_90071810?lang=en®ion=US xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002848 name: QG56 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000708 ! squamous cell lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002849 name: R11 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000519 ! glioblastoma multiforme property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002850 name: RERF-LC-AI is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000708 ! squamous cell lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002851 name: RERF-LC-KJ is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: definition:citation "JCRB0137" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002852 name: RERF-LC-MS is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma relationship: RO:0001000 HANCESTRO:0019 ! derives_from Japanese property_value: definition:citation "JCRB0081" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002853 name: RM 82 def: "A cell line derived from human 39 s sarcoma." [] synonym: "RM82" EXACT [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000174 ! Ewing sarcoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002854 name: SBC-3 def: "A cell line derived from human small cell lung carcinoma." [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000702 ! small cell lung carcinoma property_value: definition:citation "JCRB0818" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002855 name: SBC-5 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000702 ! small cell lung carcinoma property_value: definition:citation "JCRB0819" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002856 name: SCH is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000178 ! gastric carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002857 name: SHEP-SF is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005214 ! neuroblastoma cell line relationship: has_characteristic EFO:0000621 ! neuroblastoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002858 name: SK-ES-1 synonym: "SK ES1" EXACT [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000174 ! Ewing sarcoma relationship: RO:0000086 PATO:0000384 ! has_quality male relationship: RO:0001000 HANCESTRO:0005 ! derives_from European property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002859 name: SK-N-AS synonym: "SKNAS" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005214 ! neuroblastoma cell line relationship: has_characteristic EFO:0000621 ! neuroblastoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002860 name: SK-N-MC synonym: "SKNMc" EXACT [] xref: BTO:0002914 xref: CLO:0009058 xref: RRID:CVCL_0530 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000174 ! Ewing sarcoma property_value: definition:citation "HB-10" xsd:string property_value: definition:citation https://www.atcc.org/products/all/HTB-10.aspx xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002861 name: SQ-5 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000708 ! squamous cell lung carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002862 name: STA-ET-1 synonym: "STA ET1" EXACT [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000174 ! Ewing sarcoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002863 name: STA-ET-2.1 synonym: "STA ET2.1" EXACT [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000174 ! Ewing sarcoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002864 name: T24 xref: CLO:0009245 xref: RRID:CVCL_0554 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic MONDO:0004986 ! urinary bladder carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0002865 name: TC71 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000174 ! Ewing sarcoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002866 name: TE85 is_a: BTO:0000407 ! osteosarcoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000637 ! osteosarcoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002867 name: TMK1 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000178 ! gastric carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002868 name: TT3E is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002887 ! mouse cell line property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002869 name: U2OS synonym: "U2-OS" EXACT [] xref: CLO:0009454 xref: RRID:CVCL_0042 is_a: BTO:0000407 ! osteosarcoma cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000637 ! osteosarcoma property_value: definition:citation https://www.atcc.org/Products/All/HTB-96.aspx xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002870 name: VH-64 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000174 ! Ewing sarcoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002871 name: WB-F344 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002936 ! rat cell line relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002872 name: WE-68 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000174 ! Ewing sarcoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002873 name: WM793 is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002874 name: WM793-P1N1 is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002875 name: WM793-P2N1 is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002876 name: YCC1 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000178 ! gastric carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002877 name: YCC10 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000178 ! gastric carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002878 name: YCC11 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000178 ! gastric carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002879 name: YCC16 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000178 ! gastric carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002880 name: YCC3 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000178 ! gastric carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002881 name: YCC6 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000178 ! gastric carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002882 name: YCC7 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000178 ! gastric carcinoma property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002883 name: haemopoietic system cell line def: "Cell lines that are part of the haemopoietic system." [] synonym: "hemopoietic system cell line" EXACT [] is_a: CL:0000010 ! cultured cell [Term] id: EFO:0002884 name: mammary gland cell line is_a: CL:0000010 ! cultured cell [Term] id: EFO:0002885 name: breast cancer cell line is_a: EFO:0001639 ! cancer cell line intersection_of: CL:0000010 ! cultured cell intersection_of: has_characteristic EFO:0000305 ! breast carcinoma [Term] id: EFO:0002886 name: stem cell derived cell line def: "Cell lines derived from stem cells." [] is_a: CL:0000010 ! cultured cell [Term] id: EFO:0002887 name: mouse cell line def: "Cell lines derived from mice." [] xref: NCIt:C20220 is_a: CL:0000010 ! cultured cell [Term] id: EFO:0002888 name: Homo sapiens cell line is_a: CL:0000010 ! cultured cell [Term] id: EFO:0002890 name: renal carcinoma def: "A carcinoma arising from the epithelium of the renal parenchyma or the renal pelvis. The majority are renal cell carcinomas. Kidney carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms." [NCIT:C9384] synonym: "carcinoma of kidney" EXACT [DOID:4451, MONDO:patterns/carcinoma] synonym: "kidney (including renal cell) cancer" BROAD [NCIT:C9384] synonym: "kidney (including renal cell) cancer" EXACT [NCIT:C9384] synonym: "kidney (renal) cancer" BROAD [NCIT:C9384] synonym: "kidney (renal) cancer" EXACT [NCIT:C9384] synonym: "kidney cancer" BROAD [NCIT:C9384] synonym: "kidney cancer" EXACT [NCIT:C9384] synonym: "kidney carcinoma" EXACT [DOID:4451, MONDO:patterns/location, NCIT:C9384] synonym: "renal cancer" BROAD [NCIT:C9384] synonym: "renal cancer" EXACT [NCIT:C9384] synonym: "renal carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "renal carcinoma" EXACT [NCIT:C9384] synonym: "renal carcinoma" EXACT [] {comment="preferred label from MONDO"} xref: DOID:4451 {source="EFO:0002890", source="MONDO:equivalentTo"} xref: EFO:0002890 {source="MONDO:equivalentTo"} xref: MedDRA:10007404 xref: MedDRA:10023406 xref: MONDO:0005206 xref: NCIT:C9384 {source="EFO:0002890", source="MONDO:equivalentTo", source="DOID:4451"} xref: OMIM:144700 xref: UMLS:C1378703 {source="MONDO:equivalentTo", source="DOID:4451", source="NCIT:C9384"} is_a: EFO:0000313 {source="DOID:4451", source="EFO:0002890", source="MONDO:Redundant", source="NCIT:C9384"} ! carcinoma is_a: MONDO:0002367 {source="DOID:4451", source="MONDO:Redundant", source="NCIT:C9384"} ! kidney cancer relationship: EFO:0000784 UBERON:0002113 ! has_disease_location kidney property_value: closeMatch http://identifiers.org/snomedct/188251003 property_value: exactMatch DOID:4451 property_value: exactMatch DOID:4451 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1378703 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1378703 property_value: exactMatch NCIT:C9384 property_value: exactMatch NCIT:C9384 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:0002891 name: prostate derived cell line def: "Any cell line that is derived from the prostate." [] is_a: CL:0000010 ! cultured cell property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002892 name: thyroid carcinoma def: "A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic." [NCIT:C4815] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:100088"} synonym: "cancer of the thyroid" BROAD [NCIT:C4815] synonym: "cancer of the thyroid" EXACT [NCIT:C4815] synonym: "cancer of thyroid" BROAD [NCIT:C4815] synonym: "cancer of thyroid" EXACT [NCIT:C4815] synonym: "carcinoma of the thyroid" EXACT [NCIT:C4815] synonym: "carcinoma of the thyroid gland" EXACT [NCIT:C4815] synonym: "carcinoma of thyroid" EXACT [NCIT:C4815] synonym: "carcinoma of thyroid gland" EXACT [MONDO:patterns/carcinoma, NCIT:C4815] synonym: "head and neck cancer, thyroid" BROAD [DOID:3963, NCIT:C4815] synonym: "head and neck cancer, thyroid" EXACT [DOID:3963, NCIT:C4815] synonym: "thyroid cancer" BROAD [NCIT:C4815] synonym: "thyroid cancer" EXACT [NCIT:C4815] synonym: "thyroid carcinoma" EXACT [MONDO:ambiguous, NCIT:C4815] synonym: "thyroid gland cancer" BROAD [NCIT:C4815] synonym: "thyroid gland cancer" EXACT [NCIT:C4815] synonym: "thyroid gland carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "thyroid gland carcinoma" EXACT [MONDO:0006461, MONDO:patterns/location, NCIT:C4815] synonym: "thyroid gland carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: DOID:3963 {source="MONDO:equivalentTo"} xref: EFO:1000586 {source="MONDO:equivalentTo"} xref: HP:0002890 {source="MONDO:otherHierarchy"} xref: MedDRA:10007476 {source="Orphanet:100088", source="Orphanet:100088/e"} xref: MedDRA:10007476 {source="Orphanet:100088", source="ORDO:100088/e"} xref: MONDO:0015075 xref: NCIT:C4815 {source="EFO:1000586", source="MONDO:equivalentTo", source="DOID:3963"} xref: Orphanet:100088 {source="MONDO:equivalentTo"} xref: SCTID:448216007 {source="MONDO:equivalentTo"} xref: UMLS:C0549473 {source="Orphanet:100088", source="NCIT:C4815", source="ORDO:100088/e", source="MONDO:equivalentTo", source="DOID:3963"} xref: UMLS:C0549473 {source="Orphanet:100088", source="NCIT:C4815", source="MONDO:equivalentTo", source="Orphanet:100088/e", source="DOID:3963"} is_a: EFO:0000313 {source="DOID:3963", source="EFO:1000586", source="MONDO:Redundant", source="NCIT:C4815/inferred"} ! carcinoma is_a: MONDO:0002108 {source="DOID:3963", source="MONDO:Redundant", source="NCIT:C4815"} ! thyroid cancer relationship: EFO:0000784 UBERON:0002046 ! has_disease_location thyroid gland property_value: closeMatch http://identifiers.org/meddra/10007476 property_value: closeMatch http://identifiers.org/mesh/D013964 property_value: exactMatch DOID:3963 property_value: exactMatch DOID:3963 property_value: exactMatch http://identifiers.org/meddra/10007476 property_value: exactMatch http://identifiers.org/snomedct/448216007 property_value: exactMatch http://identifiers.org/snomedct/448216007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0549473 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0549473 property_value: exactMatch NCIT:C4815 property_value: exactMatch NCIT:C4815 property_value: exactMatch Orphanet:100088 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:0002893 name: choriocarcinoma def: "An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected." [NCIT:C2948] comment: Editor note: TODO check classification w.r.t carcinoma synonym: "chorioblastoma" EXACT [NCIT:C2948] synonym: "choriocarcinoma" EXACT [MONDO:ambiguous, NCIT:C2948] synonym: "choriocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "choriocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "choriocarcinoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "choriocarcinoma, malignant" EXACT [NCIT:C2948] synonym: "chorioepithelioma" EXACT [DOID:3594, NCIT:C2948] synonym: "chorion carcinoma" EXACT [MONDO:patterns/location] synonym: "chorionic carcinoma" EXACT [NCIT:C2948] xref: DOID:3594 {source="EFO:0002893", source="MONDO:equivalentTo"} xref: EFO:0002893 {source="MONDO:equivalentTo"} xref: GARD:0006059 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: HP:0100768 {source="MONDO:otherHierarchy"} xref: ICD10:C58 {source="DOID:3594"} xref: ICDO:9100/3 {source="NCIT:C2948"} xref: MESH:D002822 {source="DOID:3594", source="EFO:0002893", source="MONDO:equivalentTo"} xref: MONDO:0005207 xref: NCIT:C2948 {source="DOID:3594", source="EFO:0002893", source="MONDO:equivalentTo"} xref: ONCOTREE:BCCA {source="MONDO:equivalentTo"} xref: SCTID:188188009 {source="DOID:3594", source="EFO:0002893", source="MONDO:equivalentTo"} xref: UMLS:C0008497 {source="DOID:3594", source="NCIT:C2948", source="MONDO:equivalentTo"} is_a: EFO:0000514 {source="MONDO:cjm"} ! germ cell tumor is_a: EFO:0009549 ! female reproductive system disease is_a: MONDO:0002872 {source="MESH:D002822", source="NCIT:C2948"} ! trophoblastic neoplasm relationship: EFO:0000784 UBERON:0000995 ! has_disease_location uterus relationship: has_characteristic MONDO:0021136 {source="MONDO:0018080"} ! rare property_value: closeMatch http://identifiers.org/snomedct/189444004 property_value: closeMatch http://identifiers.org/snomedct/44769000 property_value: exactMatch DOID:3594 property_value: exactMatch DOID:3594 property_value: exactMatch http://identifiers.org/mesh/D002822 property_value: exactMatch http://identifiers.org/mesh/D002822 property_value: exactMatch http://identifiers.org/snomedct/188188009 property_value: exactMatch http://identifiers.org/snomedct/188188009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008497 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008497 property_value: exactMatch NCIT:C2948 property_value: exactMatch NCIT:C2948 property_value: excluded_subClassOf MONDO:0002178 {source="DOID:3594"} property_value: excluded_subClassOf MONDO:0004970 {source="MESH:D002822"} property_value: IAO:0000589 "choriocarcinoma (disease)" xsd:string [Term] id: EFO:0002894 name: amelanotic skin melanoma def: "A amelanotic melanoma that involves the zone of skin." [MONDO:patterns/location] synonym: "amelanotic cutaneous (skin) melanoma" EXACT [NCIT:C4633] synonym: "amelanotic malignant melanoma (of skin)" EXACT [NCIT:C4633] synonym: "amelanotic malignant melanoma of skin" EXACT [NCIT:C4633] synonym: "amelanotic malignant melanoma of the skin" EXACT [NCIT:C4633] synonym: "amelanotic malignant skin melanoma" EXACT [NCIT:C4633] synonym: "amelanotic melanoma of skin" EXACT [NCIT:C4633] synonym: "amelanotic melanoma of the skin" EXACT [NCIT:C4633] synonym: "amelanotic melanoma of zone of skin" EXACT [MONDO:design_pattern] synonym: "amelanotic skin melanoma" EXACT [] {comment="preferred label from MONDO"} synonym: "amelanotic skin melanoma" EXACT [NCIT:C4633] synonym: "amelanotic skin melanoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "skin amelanotic malignant melanoma" EXACT [DOID:10054] synonym: "skin amelanotic melanoma" EXACT [MONDO:0000932] synonym: "zone of skin amelanotic melanoma" EXACT [MONDO:patterns/location] xref: DOID:10054 {source="MONDO:equivalentTo"} xref: EFO:0002894 {source="MONDO:equivalentTo"} xref: MONDO:0005208 xref: NCIT:C4633 {source="EFO:0002894", source="MONDO:equivalentTo", source="DOID:10054"} xref: UMLS:C0349515 {source="MONDO:equivalentTo", source="DOID:10054", source="NCIT:C4633"} xref: Wikipedia:Amelanotic_melanoma {source="EFO:0002894"} is_a: EFO:0000389 {source="DOID:10054", source="MONDO:Redundant", source="NCIT:C4633"} ! cutaneous melanoma is_a: EFO:1001937 {source="DOID:10054", source="MONDO:Redundant", source="NCIT:C4633"} ! amelanotic melanoma property_value: closeMatch http://identifiers.org/snomedct/276751004 property_value: exactMatch DOID:10054 property_value: exactMatch DOID:10054 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349515 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349515 property_value: exactMatch NCIT:C4633 property_value: exactMatch NCIT:C4633 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:0002895 name: MKN7 def: "Well differentiated human gastric adenocarcinoma cell line." [] synonym: "MKN-7" EXACT [] synonym: "MKN-7 cell" EXACT [] synonym: "MKN7 cell" EXACT [] xref: BTO:0002382 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000503 ! gastric adenocarcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation "JCRB1025" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002896 name: microRNA profiling by high throughput sequencing def: "An assay in which high throughput sequencing technology is used to analyse the microRNA component of the transcriptome." [] is_a: EFO:0003737 ! RNA-seq of non coding RNA relationship: RO:0000057 EFO:0002699 ! has_participant high throughput sequencer property_value: ArrayExpress:label "MicroRNA profiling by sequencing" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Natalja Kurbatova" xsd:string [Term] id: EFO:0002897 name: gram per kilogram synonym: "g/kg" EXACT [] xref: NCIt:C69104 xref: SNOMEDCT:396167009 is_a: UO:0000051 ! concentration unit property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string [Term] id: EFO:0002898 name: gram per meter squared synonym: "g/m^2" EXACT [] synonym: "gram per metre squared" EXACT [] synonym: "gram per square meter" EXACT [] xref: NCIt:C67282 is_a: EFO:0001703 ! derived mass unit property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002899 name: microgram per kilogram synonym: "ug/kg" EXACT [] xref: NCIt:C67396 xref: SNOMEDCT:258803005 is_a: UO:0000051 ! concentration unit [Term] id: EFO:0002900 name: micromole per kilogram synonym: "umol/kg" EXACT [] xref: SNOMEDCT:258828002 is_a: UO:0000055 ! molar mass unit property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002901 name: micromole per liter synonym: "micromole per litre" EXACT [] synonym: "umol/L" EXACT [] xref: NCIt:C48508 xref: SNOMEDCT:258814008 is_a: UO:0000055 ! molar mass unit is_a: UO:0000061 ! unit of molarity property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002902 name: milligram per kilogram synonym: "mg/kg" EXACT [] xref: NCIt:C67401 xref: SNOMEDCT:396163008 is_a: UO:0000061 ! unit of molarity property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002904 name: weight percent is_a: UO:0000187 ! percent [Term] id: EFO:0002906 name: obsolete_whole organism property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0000468 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000468 [Term] id: EFO:0002907 name: population growth assay def: "A population growth assay is an assay that measures the multiplication or reproduction of cells, resulting in the rapid expansion of a cell population." [] synonym: "cell proliferation assay" EXACT [] synonym: "growth assay" EXACT [] xref: NCIt:C116553 is_a: OBI:0000070 ! assay relationship: OBI:0000293 OBI:0000181 ! has_input population property_value: IAO:0000117 "Flora Logan" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002908 name: motility assay def: "A motility assay is an assay which measures the controlled movement of a population of cells." [] is_a: OBI:0000070 ! assay relationship: OBI:0000293 OBI:0000181 ! has_input population property_value: IAO:0000117 "Flora Logan" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002909 name: microscopy assay def: "A microscopy assay is an assay that provides images of molecules at various resolution depending on the technology used." [] is_a: OBI:0000070 ! assay relationship: OBI:0000293 BFO:0000040 ! has_input material entity property_value: IAO:0000117 "Flora Logan" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002910 name: ENCODE def: "ENCODE, full name the Encyclopedia Of DNA Elements, is a public research consortium which has the aim of identifying all functional elements in the human genome sequence." [] xref: NCIt:C80216 is_a: OBI:0000245 ! organization property_value: definition:citation "ENCODE website " xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002911 name: The International HapMap Project def: "The International HapMap Project is a partnership of scientists and funding agencies from Canada, China, Japan, Nigeria, the United Kingdom and the United States to develop a public resource that will help researchers find genes associated with human disease and response to pharmaceuticals." [] is_a: OBI:0000245 ! organization property_value: definition:citation "Tha HapMap Project webpage " xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002912 name: characterization of functional areas of human genome is_a: EFO:0002694 ! experimental process relationship: RO:0000057 EFO:0002911 ! has_participant The International HapMap Project [Term] id: EFO:0002913 name: Cutaneous T-cell lymphoma def: "A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma." [NCIT:C3467] synonym: "CTCL" EXACT ABBREVIATION [NCIT:C3467] synonym: "cutaneous T cell lymphoma" EXACT [NCIT:C3467] synonym: "cutaneous T-cell lymphoma" EXACT [DOID:0060061, MONDO:0005209, NCIT:C3467] synonym: "cutaneous T-cell non-Hodgkin lymphoma" EXACT [NCIT:C3467] synonym: "cutaneous T-cell non-Hodgkin's lymphoma" EXACT [NCIT:C3467] synonym: "PCTCL" EXACT ABBREVIATION [NCIT:C3467] synonym: "primary cutaneous T-cell non-Hodgkin lymphoma" EXACT [NCIT:C3467] synonym: "primary cutaneous T-cell non-Hodgkin lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "primary cutaneous T-cell non-Hodgkin lymphoma" EXACT [] {comment="preferred label from MONDO"} synonym: "primary cutaneous T-cell non-Hodgkin's lymphoma" EXACT [NCIT:C3467] synonym: "skin T-cell non-Hodgkin's lymphoma" EXACT [NCIT:C3467] synonym: "T-cell non-Hodgkin's lymphoma of skin" EXACT [NCIT:C3467] synonym: "T-cell non-Hodgkin's lymphoma of the skin" EXACT [NCIT:C3467] xref: DOID:0060061 {source="MONDO:equivalentTo"} xref: EFO:0002913 {source="MONDO:equivalentTo"} xref: ICDO:9709/3 {source="NCIT:C3467"} xref: MESH:D016410 {source="MONDO:equivalentTo", source="DOID:0060061"} xref: MONDO:0000607 xref: NCIT:C3467 {source="MONDO:equivalentTo", source="EFO:0002913"} is_a: MONDO:0018898 {source="NCIT:C3467"} ! primary cutaneous lymphoma property_value: closeMatch http://identifiers.org/snomedct/28054005 property_value: exactMatch DOID:0060061 property_value: exactMatch DOID:0060061 property_value: exactMatch http://identifiers.org/mesh/D016410 property_value: exactMatch http://identifiers.org/mesh/D016410 property_value: exactMatch NCIT:C3467 property_value: exactMatch NCIT:C3467 property_value: excluded_subClassOf MONDO:0000434 {source="DOID:0060061"} [Term] id: EFO:0002914 name: uterine sarcoma alt_id: MONDO:0021422 def: "A malignant mesenchymal neoplasm arising from the wall of the uterine corpus (uterine body). The most representative examples are leiomyosarcoma and endometrial stromal sarcoma." [NCIT:C6339] subset: disease_grouping subset: gard_rare {source="GARD:0009383"} subset: ordo_group_of_disorders {source="Orphanet:213620"} synonym: "body of uterus sarcoma" EXACT [MONDO:patterns/location] synonym: "corpus uteri sarcoma" EXACT [NCIT:C6339] synonym: "sarcoma of body of uterus" EXACT [MONDO:patterns/sarcoma] synonym: "sarcoma of corpus uteri" EXACT [DOID:5165, NCIT:C6339] synonym: "sarcoma of the body of uterus" EXACT [NCIT:C6339] synonym: "sarcoma of the corpus uteri" EXACT [MONDO:0016261] synonym: "sarcoma of the uterine body" EXACT [NCIT:C6339] synonym: "sarcoma of the uterine corpus" EXACT [NCIT:C6339] synonym: "sarcoma of the uterus" RELATED [GARD:0009383] synonym: "sarcoma of uterine body" EXACT [NCIT:C6339] synonym: "sarcoma of uterine corpus" EXACT [NCIT:C6339] synonym: "sarcoma of uterus" EXACT [NCIT:C6339] synonym: "uterine body sarcoma" EXACT [NCIT:C6339] synonym: "uterine corpus sarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "uterine corpus sarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "uterine sarcoma" RELATED [GARD:0009383] synonym: "uterine sarcoma/mesenchymal" RELATED [ONCOTREE:USARC] synonym: "uterus sarcoma" EXACT [NCIT:C6339] xref: DOID:5165 {source="MONDO:equivalentTo", source="EFO:0002914"} xref: EFO:0002914 {source="MONDO:equivalentTo"} xref: GARD:0009383 {source="MONDO:equivalentTo"} xref: ICD10:C54.2 {source="Orphanet:213620", source="ORDO:213620/ntbt"} xref: MedDRA:10039497 {source="Orphanet:213620", source="Orphanet:213620/e"} xref: MedDRA:10039497 {source="ORDO:213620/e", source="Orphanet:213620"} xref: MONDO:0005210 xref: NCIT:C6339 {source="MONDO:equivalentTo", source="EFO:0002914", source="DOID:5165"} xref: ONCOTREE:USARC {source="MONDO:equivalentTo"} xref: Orphanet:213620 {source="MONDO:equivalentTo"} xref: SCTID:254877001 {source="MONDO:equivalentTo", source="DOID:5165"} xref: UMLS:C0338113 {source="ORDO:213620/e", source="Orphanet:213620", source="MONDO:equivalentTo", source="NCIT:C6339", source="DOID:5165"} xref: UMLS:C0338113 {source="Orphanet:213620", source="MONDO:equivalentTo", source="Orphanet:213620/e", source="NCIT:C6339", source="DOID:5165"} is_a: EFO:0000691 {source="DOID:5165", source="EFO:0002914", source="MONDO:Redundant", source="NCIT:C6339/inferred"} ! sarcoma is_a: EFO:0007532 {source="DOID:5165", source="MONDO:Entailed", source="MONDO:indirect"} ! uterine corpus cancer relationship: EFO:0000784 UBERON:0000995 ! has_disease_location uterus relationship: has_characteristic MONDO:0021136 {source="MONDO:0016253"} ! rare property_value: closeMatch http://identifiers.org/meddra/10039497 property_value: exactMatch DOID:5165 property_value: exactMatch DOID:5165 property_value: exactMatch http://identifiers.org/meddra/10039497 property_value: exactMatch http://identifiers.org/snomedct/254877001 property_value: exactMatch http://identifiers.org/snomedct/254877001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0338113 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0338113 property_value: exactMatch NCIT:C6339 property_value: exactMatch NCIT:C6339 property_value: exactMatch Orphanet:213620 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/sarcoma.yaml property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9383/uterine-sarcoma xsd:anyURI {source="GARD:0009383"} [Term] id: EFO:0002915 name: obsolete_rectal carcinoma property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.6.1" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://www.ebi.ac.uk/efo/EFO_0000365 colorectal adenocarcinoma" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000365 [Term] id: EFO:0002916 name: esophageal carcinoma def: "Esophageal carcinoma (EC) is a tumor arising in the epithelial cells lining the esophagus and can be divided into two subtypes: esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC)." [Orphanet:70482] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:70482"} synonym: "cancer of esophagus" NARROW [DOID:1107, NCIT:C3513] synonym: "cancer of oesophagus" NARROW [DOID:1107] synonym: "cancer of oesophagus" NARROW OMO:0003005 [] synonym: "cancer of the esophagus" NARROW [NCIT:C3513] synonym: "cancer of the oesophagus" NARROW OMO:0003005 [] synonym: "carcinoma of esophagus" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "carcinoma of esophagus" EXACT [] {comment="preferred label from MONDO"} synonym: "carcinoma of esophagus" EXACT [DOID:1107, MONDO:patterns/carcinoma, MTH:NOCODE, NCIT:C3513] synonym: "carcinoma of oesophagus" EXACT [DOID:1107] synonym: "carcinoma of the esophagus" EXACT [NCIT:C3513] synonym: "carcinoma of the oesophagus" EXACT OMO:0003005 [] synonym: "esophageal cancer" NARROW [NCIT:C3513] synonym: "esophageal cancer, NOS" NARROW [NCIT:C3513] synonym: "esophageal carcinoma" EXACT [MONDO:0001189, NCIT:C3513, Orphanet:70482] synonym: "esophagus carcinoma" EXACT [MONDO:patterns/location, NCIT:C3513] synonym: "oesophagus carcinoma" EXACT OMO:0003005 [] xref: DOID:1107 {source="MONDO:equivalentTo"} xref: EFO:0002916 {source="MONDO:equivalentTo", source="DOID:1107"} xref: MedDRA:10030155 {source="Orphanet:70482", source="ORDO:70482/e"} xref: MedDRA:10030155 {source="Orphanet:70482", source="Orphanet:70482/e"} xref: MONDO:0019086 xref: NCIT:C3513 {source="MONDO:equivalentTo", source="DOID:1107"} xref: Orphanet:70482 {source="MONDO:equivalentTo"} xref: SCTID:372138000 {source="MONDO:equivalentTo", source="DOID:1107"} xref: UMLS:C0152018 {source="Orphanet:70482", source="MONDO:equivalentTo", source="DOID:1107", source="NCIT:C3513", source="ORDO:70482/e"} xref: UMLS:C0152018 {source="Orphanet:70482", source="MONDO:equivalentTo", source="Orphanet:70482/e", source="DOID:1107", source="NCIT:C3513"} is_a: EFO:1000218 {source="MONDO:Redundant", source="NCIT:C3513"} ! Digestive System Carcinoma is_a: MONDO:0007576 {source="DOID:1107", source="MONDO:Redundant", source="NCIT:C3513"} ! esophageal cancer relationship: EFO:0000784 UBERON:0001043 ! has_disease_location esophagus property_value: closeMatch http://identifiers.org/meddra/10030155 property_value: closeMatch http://identifiers.org/snomedct/154441003 property_value: closeMatch http://identifiers.org/snomedct/255079005 property_value: closeMatch http://identifiers.org/snomedct/93785002 property_value: exactMatch DOID:1107 property_value: exactMatch DOID:1107 property_value: exactMatch http://identifiers.org/meddra/10030155 property_value: exactMatch http://identifiers.org/snomedct/372138000 property_value: exactMatch http://identifiers.org/snomedct/372138000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152018 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152018 property_value: exactMatch NCIT:C3513 property_value: exactMatch NCIT:C3513 property_value: exactMatch Orphanet:70482 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:0002917 name: ovarian serous adenocarcinoma alt_id: MONDO:0003625 def: "An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia." [NCIT:C7550] synonym: "malignant ovarian serous tumour" RELATED OMO:0003005 [] synonym: "ovarian serous adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "ovarian serous adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "ovarian serous adenocarcinoma" EXACT [NCIT:C7550] synonym: "ovarian serous carcinoma" EXACT [MONDO:0000547, NCIT:C7550] synonym: "ovary serous adenocarcinoma" EXACT [MONDO:patterns/location] synonym: "serous adenocarcinoma of ovary" EXACT [NCIT:C7550] synonym: "serous adenocarcinoma of the ovary" EXACT [NCIT:C7550] synonym: "serous carcinoma of ovary" EXACT [DOID:5744, NCIT:C7550] synonym: "serous carcinoma of the ovary" EXACT [NCIT:C7550] synonym: "serous ovarian cancer" RELATED [ONCOTREE:SOC] xref: DOID:0050933 {source="MONDO:equivalentTo"} xref: DOID:5744 {source="MONDO:equivalentTo"} xref: EFO:0002917 {source="MONDO:equivalentTo"} xref: MONDO:0005211 xref: NCIT:C7550 {source="EFO:0002917", source="DOID:5744", source="MONDO:equivalentTo"} xref: ONCOTREE:SOC {source="MONDO:equivalentTo"} is_a: EFO:0003825 {source="DOID:5744", source="EFO:0002917", source="MONDO:Redundant", source="NCIT:C7550"} ! serous adenocarcinoma is_a: EFO:0006460 ! ovarian adenocarcinoma is_a: MONDO:0024885 {source="NCIT:C7550"} ! malignant ovarian serous tumor relationship: EFO:0000784 UBERON:0000992 ! has_disease_location ovary property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1335177 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1518234 property_value: exactMatch DOID:0050933 property_value: exactMatch DOID:0050933 property_value: exactMatch DOID:5744 property_value: exactMatch DOID:5744 property_value: exactMatch NCIT:C7550 property_value: exactMatch NCIT:C7550 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql [Term] id: EFO:0002918 name: rhabdomyosarcoma def: "A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites." [NCIT:C3359] subset: ordo_disease {source="Orphanet:780"} synonym: "rhabdomyosarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "rhabdomyosarcoma" EXACT [MONDO:ambiguous, NCIT:C3359] synonym: "rhabdomyosarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "rhabdomyosarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:0019185] synonym: "rhabdomyosarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "rhabdomyosarcoma (disease)" EXACT [MONDO:0019185] synonym: "rhabdomyosarcoma, malignant" EXACT [NCIT:C3359] xref: DOID:3247 {source="EFO:0002918", source="MONDO:equivalentTo"} xref: EFO:0002918 {source="MONDO:equivalentTo"} xref: HP:0002859 {source="MONDO:otherHierarchy"} xref: ICD10:C49.9 {source="ORDO:780/ntbt", source="Orphanet:780"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:8900/3 {source="NCIT:C3359"} xref: MedDRA:10039022 {source="ORDO:780/e", source="Orphanet:780"} xref: MedDRA:10039022 {source="Orphanet:780/e", source="Orphanet:780"} xref: MESH:D012208 {source="EFO:0002918", source="Orphanet:780/e", source="DOID:3247", source="MONDO:equivalentTo", source="Orphanet:780"} xref: MESH:D012208 {source="EFO:0002918", source="DOID:3247", source="MONDO:equivalentTo", source="ORDO:780/e", source="Orphanet:780"} xref: MONDO:0005212 xref: NCIT:C3359 {source="EFO:0002918", source="DOID:3247", source="MONDO:equivalentTo"} xref: ONCOTREE:RMS {source="MONDO:equivalentTo"} xref: Orphanet:780 {source="MONDO:equivalentTo"} xref: SCTID:302847003 {source="EFO:0002918", source="DOID:3247", source="MONDO:equivalentTo"} xref: UMLS:C0035412 {source="DOID:3247", source="MONDO:equivalentTo", source="ORDO:780/e", source="Orphanet:780", source="NCIT:C3359"} xref: UMLS:C0035412 {source="Orphanet:780/e", source="DOID:3247", source="MONDO:equivalentTo", source="Orphanet:780", source="NCIT:C3359"} is_a: EFO:0007384 ! muscle cancer is_a: EFO:1001968 {source="Orphanet:780"} ! soft tissue sarcoma property_value: closeMatch http://identifiers.org/meddra/10039022 property_value: closeMatch http://identifiers.org/snomedct/134166003 property_value: closeMatch http://identifiers.org/snomedct/30924005 property_value: exactMatch DOID:3247 property_value: exactMatch DOID:3247 property_value: exactMatch http://identifiers.org/meddra/10039022 property_value: exactMatch http://identifiers.org/mesh/D012208 property_value: exactMatch http://identifiers.org/mesh/D012208 property_value: exactMatch http://identifiers.org/snomedct/302847003 property_value: exactMatch http://identifiers.org/snomedct/302847003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035412 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035412 property_value: exactMatch NCIT:C3359 property_value: exactMatch NCIT:C3359 property_value: exactMatch Orphanet:780 property_value: excluded_subClassOf MONDO:0002847 property_value: excluded_subClassOf MONDO:0016123 {source="Orphanet:780"} property_value: IAO:0000589 "rhabdomyosarcoma (disease)" xsd:string [Term] id: EFO:0002919 name: uterine carcinoma def: "A carcinoma involving a uterus." [MONDO:patterns/carcinoma] synonym: "carcinoma of uterus" EXACT [MONDO:patterns/carcinoma] synonym: "uterine carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "uterine carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "uterus carcinoma" EXACT [MONDO:patterns/location] xref: EFO:0002919 {source="MONDO:equivalentTo"} xref: MONDO:0005213 xref: SCTID:446022000 {source="MONDO:equivalentTo"} xref: UMLS:C2960452 {source="MONDO:equivalentTo"} is_a: EFO:0000313 {source="EFO:0002919", source="MONDO:Redundant"} ! carcinoma is_a: MONDO:0002715 ! uterine cancer relationship: EFO:0000784 UBERON:0000995 ! has_disease_location uterus property_value: exactMatch http://identifiers.org/snomedct/446022000 property_value: exactMatch http://identifiers.org/snomedct/446022000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2960452 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2960452 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:0002920 name: vulva sarcoma def: "A malignant mesenchymal neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma." [NCIT:C40317] synonym: "mammalian vulva sarcoma" EXACT [MONDO:patterns/location] synonym: "sarcoma of mammalian vulva" EXACT [MONDO:patterns/sarcoma] synonym: "sarcoma of vulva" EXACT [DOID:2096] synonym: "vulva sarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "vulva sarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "vulvar sarcoma" EXACT [DOID:2096, NCIT:C40317] xref: DOID:2096 {source="MONDO:equivalentTo", source="EFO:0002920"} xref: EFO:0002920 {source="MONDO:equivalentTo"} xref: MONDO:0005214 xref: NCIT:C40317 {source="MONDO:equivalentTo", source="EFO:0002920", source="DOID:2096"} xref: SCTID:254897006 {source="MONDO:equivalentTo", source="DOID:2096"} xref: UMLS:C0238525 {source="NCIT:C40317", source="MONDO:equivalentTo", source="DOID:2096"} is_a: EFO:1001968 {source="NCIT:C40317"} ! soft tissue sarcoma is_a: MONDO:0001528 {source="DOID:2096", source="MONDO:Redundant", source="NCIT:C40317"} ! vulva cancer relationship: EFO:0000784 UBERON:0000997 ! has_disease_location mammalian vulva property_value: exactMatch DOID:2096 property_value: exactMatch DOID:2096 property_value: exactMatch http://identifiers.org/snomedct/254897006 property_value: exactMatch http://identifiers.org/snomedct/254897006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238525 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238525 property_value: exactMatch NCIT:C40317 property_value: exactMatch NCIT:C40317 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/sarcoma.yaml [Term] id: EFO:0002921 name: vulvar carcinoma def: "A carcinoma that arises from epithelial cells of the mammalian vulva" [MONDO:DesignPattern] def: "A carcinoma that arises from epithelial cells of the mammalian vulva" [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of the vulva" BROAD [NCIT:C4866] synonym: "cancer of the vulva" EXACT [NCIT:C4866] synonym: "cancer of vulva" BROAD [NCIT:C4866] synonym: "cancer of vulva" EXACT [NCIT:C4866] synonym: "carcinoma of mammalian vulva" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of the vulva" EXACT [NCIT:C4866] synonym: "carcinoma of vulva" EXACT [DOID:1294, NCIT:C4866] synonym: "mammalian vulva carcinoma" EXACT [MONDO:patterns/location] synonym: "vulva cancer" BROAD [NCIT:C4866] synonym: "vulva cancer" EXACT [NCIT:C4866] synonym: "vulva carcinoma" EXACT [NCIT:C4866] synonym: "vulvar cancer" BROAD [NCIT:C4866] synonym: "vulvar cancer" EXACT [NCIT:C4866] synonym: "vulvar carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "vulvar carcinoma" EXACT [DOID:1294, NCIT:C4866] synonym: "vulvar carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: DOID:1294 {source="MONDO:equivalentTo", source="EFO:0002921"} xref: EFO:0002921 {source="MONDO:equivalentTo"} xref: MONDO:0005215 xref: NCIT:C4866 {source="MONDO:equivalentTo", source="EFO:0002921", source="DOID:1294"} xref: Orphanet:494418 {source="MONDO:equivalentTo"} xref: SCTID:447882007 {source="MONDO:equivalentTo"} xref: UMLS:C0677055 {source="MONDO:equivalentTo", source="NCIT:C4866", source="DOID:1294"} is_a: EFO:0000313 {source="DOID:1294", source="EFO:0002921", source="MONDO:Redundant", source="NCIT:C4866"} ! carcinoma is_a: MONDO:0001528 {source="DOID:1294", source="MONDO:Redundant", source="NCIT:C4866"} ! vulva cancer relationship: EFO:0000784 UBERON:0000997 ! has_disease_location mammalian vulva property_value: exactMatch DOID:1294 property_value: exactMatch DOID:1294 property_value: exactMatch http://identifiers.org/snomedct/447882007 property_value: exactMatch http://identifiers.org/snomedct/447882007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0677055 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0677055 property_value: exactMatch NCIT:C4866 property_value: exactMatch NCIT:C4866 property_value: exactMatch Orphanet:494418 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:0002922 name: normal cell line is_a: CL:0000010 ! cultured cell intersection_of: CL:0000010 ! cultured cell intersection_of: has_characteristic PATO:0000461 ! normal [Term] id: EFO:0002923 name: obsolete_retinoblastoma def: "A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma." [] synonym: "RB" EXACT [] xref: NCIt:C7541 xref: OMIM:180200 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_790' instead.\nNew Label : Retinoblastoma" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_790 [Term] id: EFO:0002924 name: HapMap haplotype mapping is_a: EFO:0002694 ! experimental process relationship: RO:0000057 EFO:0002911 ! has_participant The International HapMap Project [Term] id: EFO:0002925 name: ENCODE functional genome mapping is_a: EFO:0002694 ! experimental process [Term] id: EFO:0002926 name: ENCODE cell line is_a: CL:0000010 ! cultured cell intersection_of: CL:0000010 ! cultured cell intersection_of: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping [Term] id: EFO:0002927 name: International Unit synonym: "IU" EXACT [] xref: MO:1011 xref: NCIt:C48579 xref: SNOMEDCT:258997004 is_a: UO:0000000 ! unit property_value: definition:citation http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#International_Unit_of_Biological_Activity xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jon Ison" xsd:string [Term] id: EFO:0002928 name: International Unit per milliliter def: "A unit of arbitrary substance concentration (biologic activity concentration) defined as the concentration of one international unit per one milliliter of system volume." [] xref: NCIt:C67377 is_a: UO:0000186 ! dimensionless unit property_value: definition:citation http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#International_Unit_per_Milliliter xsd:string [Term] id: EFO:0002929 name: microgram per kilogram per day synonym: "ug per kg per day" EXACT [] xref: NCIt:C73729 is_a: UO:0000186 ! dimensionless unit property_value: definition:citation http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Microgram_per_Kilogram_per_Day xsd:string [Term] id: EFO:0002930 name: milligram per kilogram per day synonym: "mg_per_kg_per_day" EXACT [] xref: MO:353 xref: NCIt:C66976 is_a: UO:0000186 ! dimensionless unit property_value: definition:citation http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Microgram_per_Kilogram_per_Day xsd:string [Term] id: EFO:0002931 name: unit per kilogram synonym: "U/kg" EXACT [] xref: NCIt:C67465 xref: SNOMEDCT:415785005 is_a: UO:0000186 ! dimensionless unit property_value: definition:citation http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Unit_per_Kilogram xsd:string [Term] id: EFO:0002933 name: HapMap cell line def: "Cell lines used in experiments under the HapMap Project" [] is_a: CL:0000010 ! cultured cell intersection_of: CL:0000010 ! cultured cell intersection_of: OBI:0000295 EFO:0002924 ! is_specified_input_of HapMap haplotype mapping [Term] id: EFO:0002934 name: lung cancer cell line is_a: EFO:0001639 ! cancer cell line relationship: develops_from BTO:0000551 ! lung cancer cell relationship: has_characteristic EFO:0001071 ! lung carcinoma [Term] id: EFO:0002935 name: Drosophila melanogaster cell line is_a: CL:0000010 ! cultured cell [Term] id: EFO:0002936 name: rat cell line def: "Cell lines derived from rats." [] xref: NCIt:C20222 is_a: CL:0000010 ! cultured cell [Term] id: EFO:0002937 name: lymphoma or leukaemia cell line is_a: CL:0000010 ! cultured cell [Term] id: EFO:0002938 name: hypopharyngeal carcinoma def: "Carcinoma, predominantly squamous cell, arising from the epithelial cells of the hypopharynx." [NCIT:C9465] comment: Carcinoma, predominantly squamous cell, arising from epithelial cells of the hypopharynx {source="EFO:0002938"} synonym: "cancer of hypopharynx" BROAD [NCIT:C9465] synonym: "cancer of hypopharynx" EXACT [NCIT:C9465] synonym: "cancer of the hypopharynx" BROAD [NCIT:C9465] synonym: "cancer of the hypopharynx" EXACT [NCIT:C9465] synonym: "carcinoma of hypopharynx" EXACT [MONDO:patterns/carcinoma, NCIT:C9465] synonym: "carcinoma of the hypopharynx" EXACT [NCIT:C9465] synonym: "hypopharyngeal cancer" BROAD [NCIT:C9465] synonym: "hypopharyngeal cancer" EXACT [NCIT:C9465] synonym: "hypopharyngeal carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "hypopharyngeal carcinoma" EXACT [NCIT:C9465] synonym: "hypopharyngeal carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "hypopharyngeal throat cancer" BROAD [NCIT:C9465] synonym: "hypopharyngeal throat cancer" EXACT [NCIT:C9465] synonym: "hypopharynx carcinoma" EXACT [MONDO:patterns/location] xref: EFO:0002938 {source="MONDO:equivalentTo"} xref: MONDO:0005216 xref: NCIT:C9465 {source="MONDO:equivalentTo", source="EFO:0002938"} is_a: EFO:0007321 {source="MONDO:Redundant", source="NCIT:C9465"} ! hypopharynx cancer is_a: MONDO:0002038 ! head and neck carcinoma is_a: MONDO:0021345 {source="MONDO:Redundant", source="NCIT:C9465"} ! carcinoma of pharynx relationship: EFO:0000784 UBERON:0001051 ! has_disease_location hypopharynx property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153398 property_value: exactMatch NCIT:C9465 property_value: exactMatch NCIT:C9465 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:0002939 name: medulloblastoma def: "A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity." [NCIT:C3222] subset: gard_rare {source="GARD:0007005"} subset: ordo_disease {source="Orphanet:616"} synonym: "brain medulloblastoma" EXACT [DOID:0050902] synonym: "cerebellar medulloblastoma" EXACT [DOID:0060104] synonym: "cerebellar medulloblastoma" RELATED [DOID:0060104] synonym: "cerebellum embryonal neoplasm" EXACT [MONDO:patterns/location] synonym: "CNS PNET" RELATED [DOID:0050902, NCIT:C5398] synonym: "CPNET" RELATED ABBREVIATION [DOID:0050902] synonym: "infratentorial primitive neuroectodermal tumor" RELATED [DOID:0050902] synonym: "infratentorial primitive neuroectodermal tumour" RELATED OMO:0003005 [] synonym: "localised primitive neuroectodermal tumour" RELATED OMO:0003005 [] synonym: "localized primitive neuroectodermal tumor" RELATED [DOID:0050902] synonym: "MDB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:155255] synonym: "medulloblastoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "medulloblastoma" EXACT [MONDO:Lexical, NCIT:C3222, OMIM:155255] synonym: "medulloblastoma" EXACT [] {comment="preferred label from MONDO"} synonym: "medulloblastoma with extensive nodularity" RELATED [OMIM:155255] synonym: "medulloblastoma, autosomal recessive, autosomal dominant, somatic mutation" EXACT [OMIM:155255, OMIM:genemap2] synonym: "medulloblastoma, Desmoplastic" RELATED [OMIM:155255] synonym: "medulloblastoma, desmoplastic" RELATED [OMIM:155255] synonym: "medulloblastoma, desmoplastic, autosomal recessive, autosomal dominant, somatic mutation" EXACT [OMIM:155255, OMIM:genemap2] synonym: "medulloblastoma, malignant" EXACT [NCIT:C3222] synonym: "medulloblastoma, somatic" EXACT [OMIM:155255, OMIM:genemap2] synonym: "Medulloblastomas" EXACT [NCIT:C3222] synonym: "medulloblastomas" EXACT [NCIT:C3222] xref: DOID:0050902 {source="EFO:0002939", source="MONDO:equivalentTo"} xref: DOID:0060104 {source="MONDO:equivalentTo"} xref: EFO:0002939 {source="MONDO:equivalentTo"} xref: GARD:0007005 {source="MONDO:equivalentTo"} xref: ICD10:C71.6 {source="ORDO:616/ntbt", source="Orphanet:616"} xref: ICDO:9470/3 {source="NCIT:C3222"} xref: MedDRA:10027107 {source="Orphanet:616", source="Orphanet:616/e"} xref: MedDRA:10027107 {source="ORDO:616/e", source="Orphanet:616"} xref: MESH:D008527 {source="EFO:0002939", source="MONDO:equivalentTo", source="Orphanet:616", source="DOID:0050902", source="Orphanet:616/e"} xref: MESH:D008527 {source="EFO:0002939", source="ORDO:616/e", source="MONDO:equivalentTo", source="Orphanet:616", source="DOID:0050902"} xref: MONDO:0007959 xref: NCIT:C3222 {source="EFO:0002939", source="MONDO:equivalentTo", source="DOID:0050902"} xref: OMIM:155255 {source="EFO:0002939", source="ORDO:616/e", source="MONDO:equivalentTo", source="Orphanet:616", source="DOID:0050902"} xref: OMIM:155255 {source="EFO:0002939", source="MONDO:equivalentTo", source="Orphanet:616", source="DOID:0050902", source="Orphanet:616/e"} xref: ONCOTREE:MBL {source="MONDO:equivalentTo"} xref: Orphanet:616 {source="MONDO:equivalentTo", source="OMIM:155255"} xref: SCTID:443333004 {source="EFO:0002939", source="MONDO:equivalentTo", source="DOID:0050902"} xref: UMLS:C0025149 {source="MONDO:equivalentTo", source="NCIT:C3222", source="Orphanet:616", source="MONDO:ncbi_mim2gene_medline", source="OMIM:155255", source="DOID:0050902", source="Orphanet:616/e"} xref: UMLS:C0025149 {source="NCBI:mim2gene_medline", source="ORDO:616/e", source="MONDO:equivalentTo", source="NCIT:C3222", source="Orphanet:616", source="OMIM:155255", source="DOID:0050902"} xref: UMLS:C1334410 {source="MONDO:equivalentTo", source="DOID:0050902"} is_a: MONDO:0002913 {source="DOID:0060104", source="MONDO:Redundant", source="NCIT:C3222/inferred"} ! cerebellar neoplasm is_a: MONDO:0016708 {source="Orphanet:616"} ! embryonal tumor of neuroepithelial tissue relationship: EFO:0000784 UBERON:0000955 ! has_disease_location brain property_value: closeMatch http://identifiers.org/meddra/10027107 property_value: closeMatch http://identifiers.org/mesh/D018242 property_value: closeMatch http://identifiers.org/snomedct/189921005 property_value: closeMatch http://identifiers.org/snomedct/189925001 property_value: closeMatch http://identifiers.org/snomedct/189933000 property_value: closeMatch http://identifiers.org/snomedct/39781001 property_value: closeMatch http://identifiers.org/snomedct/55045006 property_value: closeMatch http://identifiers.org/snomedct/699028006 property_value: closeMatch http://identifiers.org/snomedct/83217000 property_value: exactMatch DOID:0050902 property_value: exactMatch DOID:0050902 property_value: exactMatch DOID:0060104 property_value: exactMatch DOID:0060104 property_value: exactMatch http://identifiers.org/meddra/10027107 property_value: exactMatch http://identifiers.org/mesh/D008527 property_value: exactMatch http://identifiers.org/mesh/D008527 property_value: exactMatch http://identifiers.org/omim/155255 property_value: exactMatch http://identifiers.org/snomedct/443333004 property_value: exactMatch http://identifiers.org/snomedct/443333004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025149 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025149 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334410 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334410 property_value: exactMatch https://omim.org/entry/155255 property_value: exactMatch NCIT:C3222 property_value: exactMatch NCIT:C3222 property_value: exactMatch Orphanet:616 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7005/medulloblastoma xsd:anyURI {source="GARD:0007005"} [Term] id: EFO:0002940 name: zebrafish cell line is_a: CL:0000010 ! cultured cell [Term] id: EFO:0002941 name: transcription profiling by SAGE def: "An assay in which the transcriptome of a biological sample is analysed by serial analysis of gene expression (SAGE)" [] is_a: EFO:0001032 ! transcription profiling property_value: ArrayExpress:label "SAGE" xsd:string property_value: IAO:0000117 "Anna Farne" xsd:string [Term] id: EFO:0002942 name: transcription profiling by MPSS def: "An assay in which the transcriptome of a biological sample is analysed by Massively Parallel Signature Sequencing (MPSS)" [] is_a: EFO:0001032 ! transcription profiling property_value: ArrayExpress:label "MPSS" xsd:string property_value: IAO:0000117 "Anna Farne" xsd:string [Term] id: EFO:0002943 name: transcription profiling by RT-PCR def: "An assay in which the transcriptome of a biological sample is analysed by reverse transcription PCR (RT-PCR)" [] is_a: EFO:0001032 ! transcription profiling property_value: ArrayExpress:label "RT=PCR" xsd:string property_value: IAO:0000117 "Anna Farne" xsd:string [Term] id: EFO:0002944 name: nucleic acid extraction protocol def: "A protocol description in which a material separation to recover the nucleic acid fraction of an input material is performed" [] is_a: EFO:0000490 ! extraction protocol is_a: EFO:0003788 ! gene expression protocol property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002945 name: familial cardiomyopathy def: "An instance of cardiomyopathy that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] synonym: "familial cardiomyopathy" EXACT [] {comment="preferred label from MONDO"} synonym: "Familial cardiomyopathy (disorder)" EXACT [] synonym: "hereditary cardiomyopathy" EXACT [MONDO:patterns/hereditary] synonym: "Primary familial cardiomyopathy" EXACT [] xref: ICD9:425.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MONDO:0005217 xref: OMIM:115200 xref: SCTID:35728003 {source="MONDO:equivalentTo", source="EFO:0002945"} xref: SNOMEDCT:35728003 xref: UMLS:C0264789 {source="MONDO:equivalentTo"} is_a: EFO:0000318 {source="EFO:0002945", source="MONDO:Redundant"} ! cardiomyopathy is_a: EFO:0000508 ! genetic disorder intersection_of: EFO:0000318 ! cardiomyopathy intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/snomedct/35728003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264789 property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002946 name: obsolete_alpha-1-antitrypsin deficiency def: "A lung disease that is characterized as a genetic disorder caused by defective production of alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. Alpha-1 antitrypsin works to protect the lungs from a naturally occuring destructive enzyme that is produced by the lungs in response to infections and toxins (such as cigarette smoke). Without enough A1AT, these enzymes slowly destroy the lung tissue causing emphysema. The symptoms include shortness of breath, wheezing, rhonchi, and rales." [] synonym: "AAT deficiency" EXACT [] synonym: "alpha 1-antitrypsin deficiency" EXACT [] synonym: "ALPHA-1-ANTITRYPSIN DEF" EXACT [] synonym: "Alpha-1-antitrypsin deficiency (disorder)" EXACT [] xref: DOID:13372 xref: ICD9:273.4 xref: OMIM:613490 xref: SNOMEDCT:154771007 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_60' instead.\nNew Label : Alpha-1 antitrypsin deficiency" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_60 [Term] id: EFO:0002947 name: parous def: "The quality of an organism that has successful reproduced." [] is_a: BFO:0000019 ! quality property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0002948 name: postnatal def: "The stage of the mother from immediately after the birth of offspring and extending for about six weeks" [] def: "The time period after birth." [] xref: NCIt:C81317 xref: SNOMEDCT:263844007 is_a: EFO:0000399 ! developmental stage [Term] id: EFO:0002950 name: pregnancy def: "The state or condition of having a developing embryo or fetus in the body (uterus), after union of an ovum and spermatozoon, during the period from conception to birth." [] def: "The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH." [] synonym: "Gestation" EXACT [] synonym: "PREGN" EXACT [] synonym: "Pregnancies" EXACT [] xref: ICD10:Z34 xref: MedDRA:10036556 xref: MeSH:D011247 xref: NCIt:C25742 xref: SNOMEDCT:289908002 is_a: GO:0000003 ! reproduction property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002951 name: virgin def: "The quality of an organism that has never been sexually active." [] xref: SNOMEDCT:309842008 is_a: BFO:0000019 ! quality [Term] id: EFO:0002954 name: differentiated def: "A property of a cell which is no longer pluripotent" [] is_a: EFO:0000323 ! cell property [Term] id: EFO:0002955 name: reproductive system cell is_a: EFO:0000324 ! cell type [Term] id: EFO:0002956 name: musculo-skeletal system cell is_a: EFO:0000324 ! cell type [Term] id: EFO:0002957 name: 2102Ep def: "2102ep is an embryonal cell line" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0003040 ! embryonic cell line relationship: has_characteristic EFO:0000313 ! carcinoma [Term] id: EFO:0002958 name: experimental cell def: "experimental cell is a cell which is experimentally derived such as a cell line cell, or a cell differentiated in culture. Experimentally derived cells may have diffrent properties from the cell from which they originally derived, such as through gene expression changes." [] synonym: "experimentally derived cell" EXACT [] is_a: EFO:0000324 ! cell type intersection_of: EFO:0000324 ! cell type intersection_of: RO:0000056 EFO:0002694 ! participates_in experimental process property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0002959 name: NTera2 def: "A human embryonal carcinoma (EC) stem cell line used as a model system for the study of neuronal differentiation" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0003040 ! embryonic cell line is_a: EFO:0005738 ! ESC derived cell line relationship: has_characteristic EFO:0000313 ! carcinoma [Term] id: EFO:0002960 name: BG03 def: "A human embryonic stem cell line" [] xref: NCIt:C20235 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0003040 ! embryonic cell line is_a: EFO:0005738 ! ESC derived cell line [Term] id: EFO:0002961 name: NTera2 derived dopaminergic neuronal like cells def: "A human embryonal carcinoma (EC) stem cell line used as a model system for the study of neuronal differentiation and differentiated into neuronal like cells" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0003040 ! embryonic cell line relationship: has_characteristic EFO:0000313 ! carcinoma [Term] id: EFO:0002962 name: animal reproductive system cell is_a: EFO:0002955 ! reproductive system cell intersection_of: EFO:0000324 ! cell type intersection_of: located_in UBERON:0000990 ! reproductive system [Term] id: EFO:0002963 name: nervous system cell is_a: EFO:0000324 ! cell type [Term] id: EFO:0002966 name: pancreatic cell is_a: EFO:0000324 ! cell type intersection_of: EFO:0000324 ! cell type intersection_of: located_in UBERON:0001264 ! pancreas [Term] id: EFO:0002967 name: pluripotent def: "A property of a cell which is able to differentiate into into one or more differentiated cell types" [] xref: NCIt:C28377 is_a: EFO:0000323 ! cell property [Term] id: EFO:0002968 name: embryonic stem cell derived neuronal stem cell def: "neural stem cells experimentally derived from ES cells" [] synonym: "ES derived NSC" EXACT [] is_a: CL:0000034 ! stem cell [Term] id: EFO:0002969 name: obsolete_endocrine system def: "Collective designation for those tissues capable of secreting hormones." [] synonym: "Body System, Endocrine/Metabolic" EXACT [] synonym: "Endocrine system (all sites)" EXACT [] synonym: "Endocrine/Metabolic Body System" EXACT [] synonym: "Endocrine/Metabolic Organ System" EXACT [] synonym: "Hormonal System" EXACT [] synonym: "Metabolic/Endocrine Body System" EXACT [] synonym: "Organ System, Endocrine/Metabolic" EXACT [] synonym: "Systema endocrinum" EXACT [] xref: FMA:9668 xref: NCIt:C12705 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000949\nlabel: endocrine system" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000949 [Term] id: EFO:0002970 name: muscular disease def: "A muscular disease in which the muscle fibers do not function resulting in muscular weakness." [] def: "Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE." [] def: "Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." [] synonym: "MUSCLE DIS" EXACT [] synonym: "Muscle Disorder" EXACT [] synonym: "Muscle Disorders" EXACT [] synonym: "MUSCULAR DIS" EXACT [] synonym: "Muscular Diseases" EXACT [] synonym: "Myopathic Condition" EXACT [] synonym: "Myopathic Conditions" EXACT [] xref: DOID:0080000 xref: ICD10:G71 xref: ICD10:M62 xref: MeSH:D009135 is_a: EFO:0009676 ! musculoskeletal system disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002971 name: ILSXISS#/Tej def: "The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." [] xref: PMID:15457343 is_a: NCBITaxon:10090 ! Mus musculus property_value: definition:citation http://jaxmice.jax.org/strain/009257.html xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002972 name: ILSXISS3/TejJ is_a: EFO:0002971 ! ILSXISS#/Tej property_value: definition:citation http://jaxmice.jax.org/strain/009257.html xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002973 name: ILSXISS7/TejJ is_a: EFO:0002971 ! ILSXISS#/Tej property_value: definition:citation http://jaxmice.jax.org/strain/009259.html xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002974 name: ILSXISS13/TejJ is_a: EFO:0002971 ! ILSXISS#/Tej property_value: definition:citation http://jaxmice.jax.org/strain/009260.html xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002975 name: ILSXISS14/TejJ is_a: EFO:0002971 ! ILSXISS#/Tej property_value: definition:citation http://jaxmice.jax.org/strain/009261.html xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002976 name: ILSXISS16/TejJ is_a: EFO:0002971 ! ILSXISS#/Tej property_value: definition:citation http://jaxmice.jax.org/strain/009262.html xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002977 name: ILSXISS19/TejJ is_a: EFO:0002971 ! ILSXISS#/Tej property_value: definition:citation http://jaxmice.jax.org/strain/009263.html xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002978 name: ILSXISS22/TejJ is_a: EFO:0002971 ! ILSXISS#/Tej property_value: definition:citation http://jaxmice.jax.org/strain/009264.html xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002979 name: ILSXISS23/TejJ is_a: EFO:0002971 ! 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ILSXISS#/Tej property_value: definition:citation http://jaxmice.jax.org/strain/009268.html xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002984 name: ILSXISS48/TejJ is_a: EFO:0002971 ! ILSXISS#/Tej property_value: definition:citation http://jaxmice.jax.org/strain/009270.html xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002985 name: ILSXISS49/TejJ is_a: EFO:0002971 ! ILSXISS#/Tej property_value: definition:citation http://jaxmice.jax.org/strain/009271.html xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002986 name: ILSXISS50/TejJ is_a: EFO:0002971 ! ILSXISS#/Tej property_value: definition:citation http://jaxmice.jax.org/strain/009309.html xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002987 name: ILSXISS51/TejJ is_a: EFO:0002971 ! ILSXISS#/Tej property_value: definition:citation http://jaxmice.jax.org/strain/009272.html xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002988 name: ILSXISS52/TejJ is_a: EFO:0002971 ! ILSXISS#/Tej property_value: definition:citation http://jaxmice.jax.org/strain/009273.html xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002989 name: ILSXISS56/TejJ is_a: EFO:0002971 ! ILSXISS#/Tej property_value: definition:citation http://jaxmice.jax.org/strain/009310.html xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002990 name: ILSXISS62/TejJ is_a: EFO:0002971 ! ILSXISS#/Tej property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002991 name: ILSXISS66/TejJ is_a: EFO:0002971 ! ILSXISS#/Tej property_value: definition:citation http://jaxmice.jax.org/strain/009275.html xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002992 name: ILSXISS79/TejJ is_a: EFO:0002971 ! ILSXISS#/Tej property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002993 name: ILSXISS80/TejJ is_a: EFO:0002971 ! ILSXISS#/Tej property_value: definition:citation http://jaxmice.jax.org/strain/009316.html xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002994 name: ILSXISS84/TejJ is_a: EFO:0002971 ! ILSXISS#/Tej property_value: definition:citation http://jaxmice.jax.org/strain/009317.html xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0002995 name: ILSXISS86/TejJ is_a: EFO:0002971 ! 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ILSXISS#/Tej property_value: definition:citation http://jaxmice.jax.org/strain/009323.html xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003008 name: ILSXISS114/TejJ is_a: EFO:0002971 ! ILSXISS#/Tej property_value: definition:citation http://jaxmice.jax.org/strain/009292.html xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003009 name: ILSXISS115/TejJ is_a: EFO:0002971 ! ILSXISS#/Tej property_value: definition:citation http://jaxmice.jax.org/strain/009293.html xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003010 name: ILSXISS117/TejJ is_a: EFO:0002971 ! ILSXISS#/Tej property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003011 name: ILSXISS122/TejJ is_a: EFO:0002971 ! ILSXISS#/Tej property_value: definition:citation http://jaxmice.jax.org/strain/009294.html xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003012 name: ILSXISS123/TejJ is_a: EFO:0002971 ! ILSXISS#/Tej property_value: definition:citation http://jaxmice.jax.org/strain/009295.html xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003013 name: Mus musculus subspecies is_a: NCBITaxon:10090 ! Mus musculus property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0003014 name: breast fibrocystic disease def: "Fibrosis associated with cyst formation in the breast parenchyma." [NCIT:C3039] comment: Some sources classify this as neoplastic but we follow NCIT and classify as non-neoplastic synonym: "benign breast disease" EXACT [NCIT:C3039] synonym: "breast fibrocystic change" EXACT [DOID:10354, NCIT:C3039] synonym: "breast fibrocystic disease" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "breast fibrocystic disease" EXACT [] {comment="preferred label from MONDO"} synonym: "cystic disease of breast" EXACT [NCIT:C3039] synonym: "cystic disease of the breast" EXACT [NCIT:C3039] synonym: "diffuse cystic mastopathy" EXACT [DOID:10354, ICD9CM_2006:610.1] synonym: "diffuse cystic mastopathy" EXACT [DOID:10354, ICD9CM:610.1] synonym: "fibrocystic breast" EXACT [NCIT:C3039] synonym: "fibrocystic breast changes" EXACT [NCIT:C3039] synonym: "fibrocystic breast disease" EXACT [NCIT:C3039] synonym: "fibrocystic change of breast" EXACT [NCIT:C3039] synonym: "fibrocystic change of the breast" EXACT [NCIT:C3039] synonym: "fibrocystic disease" EXACT [NCIT:C3039] synonym: "fibrocystic disease of breast" EXACT [DOID:10354, MTH:119, MTH:302] synonym: "fibrocystic disease of breast" EXACT [DOID:10354, MTH:119, MTH:302, MTHICD9_2006:610.1] synonym: "fibrocystic disease of the breast" EXACT [NCIT:C3039] synonym: "fibrocystic mastopathy" EXACT [NCIT:C3039] synonym: "mammary dysplasia" EXACT [NCIT:C3039] xref: COHD:78804 {source="MONDO:equivalentTo"} xref: DOID:10354 {source="EFO:0003014", source="MONDO:equivalentTo"} xref: EFO:0003014 {source="MONDO:equivalentTo"} xref: ICD10:N60 {source="DOID:10354"} xref: ICD10:N60.1 {source="DOID:10354"} xref: ICD9:610.1 {source="EFO:0003014", source="DOID:10354"} xref: MESH:D005348 {source="MONDO:equivalentTo", source="DOID:10354"} xref: MONDO:0005219 xref: NCIT:C3039 {source="EFO:0003014", source="MONDO:equivalentTo", source="DOID:10354"} xref: UMLS:C0016034 {source="MONDO:equivalentTo", source="DOID:10354"} is_a: EFO:0009483 ! breast disease is_a: EFO:0010285 ! integumentary system disease relationship: EFO:0000784 UBERON:0001911 ! has_disease_location mammary gland property_value: closeMatch http://identifiers.org/snomedct/198091009 property_value: closeMatch http://identifiers.org/snomedct/237436008 property_value: closeMatch http://identifiers.org/snomedct/27431007 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1527375 property_value: exactMatch DOID:10354 property_value: exactMatch DOID:10354 property_value: exactMatch http://identifiers.org/mesh/D005348 property_value: exactMatch http://identifiers.org/mesh/D005348 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016034 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016034 property_value: exactMatch NCIT:C3039 property_value: exactMatch NCIT:C3039 property_value: excluded_subClassOf MONDO:0000620 {source="DOID:10354"} property_value: gwas:trait "true" xsd:boolean created_by: Helen Parkinson [Term] id: EFO:0003015 name: aggressive behavior def: "Agressive behaviour is the process of engaging on hostile, affective, or retaliatory aggression and instrumental, predatory, or goal-oriented aggression towards other individuals." [] synonym: "aggression" EXACT [] synonym: "aggressive behaviour" EXACT [] xref: MedDRA:10062375 xref: MeSH:D000374 xref: NCIt:C117262 xref: SNOMEDCT:61372001 is_a: GO:0007610 ! behavior property_value: gwas:trait "true" xsd:boolean created_by: Helen Parkinson [Term] id: EFO:0003016 name: collecting duct carcinoma def: "A carcinoma that arises from epithelial cells of the collecting duct of renal tubule" [https://orcid.org/0000-0002-6601-2165] def: "A carcinoma that arises from epithelial cells of the collecting duct of renal tubule" [MONDO:DesignPattern] subset: ordo_disease {source="Orphanet:247203"} synonym: "BDC" EXACT ABBREVIATION [NCIT:C6194, Orphanet:247203] synonym: "Bellini carcinoma" EXACT [Orphanet:247203] synonym: "Bellini duct carcinoma" EXACT [NCIT:C6194, Orphanet:247203] synonym: "Bellini’s duct carcinoma" RELATED [GARD:0009573] synonym: "carcinoma of collecting duct of renal tubule" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of collecting ducts of Bellini" EXACT [NCIT:C6194] synonym: "carcinoma of kidney collecting duct" EXACT [NCIT:C6194] synonym: "carcinoma of renal collecting duct" EXACT [DOID:4464, NCIT:C6194] synonym: "carcinoma of the collecting ducts of Bellini" EXACT [NCIT:C6194] synonym: "carcinoma of the kidney collecting duct" EXACT [NCIT:C6194] synonym: "carcinoma of the renal collecting duct" EXACT [NCIT:C6194] synonym: "cDC" EXACT [Orphanet:247203] synonym: "collecting duct carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "collecting duct carcinoma" EXACT [NCIT:C6194] synonym: "collecting duct carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "collecting duct carcinoma of the kidney" RELATED [GARD:0009573] synonym: "collecting duct of renal tubule carcinoma" EXACT [MONDO:patterns/location] synonym: "collecting duct renal cancer" EXACT [NCIT:C6194] synonym: "collecting duct renal cell carcinoma" EXACT [NCIT:C6194] synonym: "kidney collecting duct carcinoma" EXACT [NCIT:C6194] synonym: "renal carcinoma, collecting duct type" EXACT [DOID:4464] synonym: "renal collecting duct carcinoma" EXACT [NCIT:C6194] synonym: "renal medullary carcinoma" EXACT [DOID:4464, NCIT:C7572] synonym: "renal medullary carcinoma" RELATED [DOID:4464, NCIT:C7572] xref: DOID:4464 {source="EFO:0003016", source="MONDO:equivalentTo"} xref: EFO:0003016 {source="MONDO:equivalentTo"} xref: GARD:0009573 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10:C64 {source="Orphanet:247203", source="ORDO:247203/ntbt"} xref: ICDO:8319/3 {source="NCIT:C6194"} xref: MONDO:0005220 xref: NCIT:C6194 {source="DOID:4464", source="EFO:0003016", source="MONDO:equivalentTo"} xref: ONCOTREE:CDRCC {source="MONDO:equivalentTo"} xref: Orphanet:247203 {source="MONDO:equivalentTo"} xref: UMLS:C1266044 {source="DOID:4464", source="Orphanet:247203", source="MONDO:equivalentTo", source="Orphanet:247203/e", source="NCIT:C6194"} xref: UMLS:C1266044 {source="DOID:4464", source="ORDO:247203/e", source="Orphanet:247203", source="MONDO:equivalentTo", source="NCIT:C6194"} is_a: EFO:0000681 {source="DOID:4464", source="EFO:0003016", source="ONCOTREE:CDRCC/inferred", source="Orphanet:247203"} ! renal cell carcinoma property_value: closeMatch http://identifiers.org/snomedct/128669006 property_value: exactMatch DOID:4464 property_value: exactMatch DOID:4464 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266044 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266044 property_value: exactMatch NCIT:C6194 property_value: exactMatch NCIT:C6194 property_value: exactMatch Orphanet:247203 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:0003017 name: transitional cell carcinoma of kidney def: "A carcinoma that arises from the transitional epithelium of the renal pelvis. It is associated with tobacco use and usually presents with gross or microscopic hematuria. Urothelial carcinomas of the renal pelvis are usually of higher grade and higher stage compared to bladder urothelial carcinomas." [NCIT:C7355] synonym: "kidney renal pelvis urothelial cancer" EXACT [NCIT:C7355] synonym: "renal pelvis transitional cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C7355] synonym: "renal pelvis urothelial cancer" EXACT [NCIT:C7355] synonym: "renal pelvis urothelial carcinoma" EXACT [NCIT:C7355] synonym: "renal pelvis urothelial carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "renal pelvis urothelial carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "transitional cell carcinoma of renal pelvis" EXACT [NCIT:C7355] synonym: "transitional cell carcinoma of the renal pelvis" EXACT [NCIT:C7355] synonym: "urothelial cell carcinoma of renal pelvis" EXACT [DOID:5974, NCIT:C7355] synonym: "urothelial cell carcinoma of the renal pelvis" EXACT [NCIT:C7355] xref: DOID:5974 {source="MONDO:equivalentTo", source="EFO:0003017"} xref: EFO:0003017 {source="MONDO:equivalentTo"} xref: ICD9:189.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:189.0 {source="MONDO:relatedTo", source="i2s"} xref: MONDO:0005221 xref: NCIT:C7355 {source="DOID:5974", source="MONDO:equivalentTo", source="EFO:0003017"} xref: SCTID:408642003 {source="MONDO:equivalentTo", source="EFO:0003017"} xref: UMLS:C0238410 {source="MONDO:equivalentObsolete", source="DOID:5974", source="NCIT:C7355"} xref: UMLS:C0238410 {source="DOID:5974", source="NCIT:C7355", source="MONDO:equivalentTo"} is_a: EFO:0005582 {source="DOID:5974", source="MONDO:Redundant", source="NCIT:C7355"} ! renal pelvis carcinoma is_a: MONDO:0020654 ! renal pelvis/ureter urothelial carcinoma property_value: exactMatch DOID:5974 property_value: exactMatch DOID:5974 property_value: exactMatch http://identifiers.org/snomedct/408642003 property_value: exactMatch http://identifiers.org/snomedct/408642003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238410 property_value: exactMatch NCIT:C7355 property_value: exactMatch NCIT:C7355 [Term] id: EFO:0003018 name: ILSXISS28/TejJ is_a: EFO:0002971 ! ILSXISS#/Tej property_value: definition:citation http://jaxmice.jax.org/strain/009266.html xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003019 name: ILSXISS46/TejJ is_a: EFO:0002971 ! ILSXISS#/Tej property_value: definition:citation http://jaxmice.jax.org/strain/009269.html xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003020 name: ILSXISS60/TejJ is_a: EFO:0002971 ! ILSXISS#/Tej property_value: definition:citation http://jaxmice.jax.org/strain/009311.html xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003021 name: interferon alpha xref: NCIt:C20494 xref: OMIM:147583 is_a: EFO:0003786 ! cytokine relationship: has_role EFO:0003787 ! cytokine role property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003022 name: interferon alpha 2a is_a: EFO:0003786 ! cytokine relationship: has_role EFO:0003787 ! cytokine role property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003023 name: interferon beta xref: NCIt:C20495 xref: SNOMEDCT:136112008 xref: SNOMEDCT:420710006 is_a: EFO:0003786 ! cytokine relationship: has_role EFO:0003787 ! cytokine role property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003024 name: interferon gamma xref: NCIt:C20496 xref: SNOMEDCT:136113003 xref: SNOMEDCT:420303002 is_a: EFO:0003786 ! cytokine relationship: has_role EFO:0003787 ! cytokine role property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003025 name: acute megakaryoblastic leukaemia def: "Acute megakaryoblastic leukemia (AMKL) is a form of acute myeloid leukemia (AML) that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis." [Orphanet:518] subset: gard_rare {source="GARD:0000524"} subset: ordo_disease {source="Orphanet:518"} synonym: "acute M7 myeloid leukaemia" EXACT OMO:0003005 [] synonym: "acute M7 myeloid leukemia" EXACT [NCIT:C3170] synonym: "acute megakaryoblastic leukaemia" EXACT [MONDO:0005222] synonym: "acute megakaryoblastic leukaemia (FAB type M7)" EXACT OMO:0003005 [] synonym: "acute megakaryoblastic leukaemia, FAB M7" EXACT [DOID:8761] synonym: "acute megakaryoblastic leukemia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "acute megakaryoblastic leukemia" EXACT [] {comment="preferred label from MONDO"} synonym: "acute megakaryoblastic leukemia" EXACT [MONDO:0004655, MONDO:0005222, NCIT:C3170] synonym: "acute megakaryoblastic leukemia" EXACT [MONDO:0004655, NCIT:C3170] synonym: "acute megakaryoblastic leukemia (FAB type M7)" EXACT [DOID:8761, NCIT:C3170] synonym: "acute megakaryoblastic leukemia, FAB M7" EXACT [DOID:8761] synonym: "acute megakaryocytic leukaemia" EXACT OMO:0003005 [] synonym: "acute megakaryocytic leukemia" EXACT [NCIT:C3170, Orphanet:518] synonym: "acute megakaryocytic leukemias" EXACT [DOID:8761, MTH:NOCODE] synonym: "acute myeloblastic leukaemia type 7" RELATED OMO:0003005 [] synonym: "acute myeloblastic leukemia type 7" RELATED [GARD:0000524] synonym: "acute myeloid leukaemia M7" EXACT OMO:0003005 [] synonym: "acute myeloid leukemia M7" EXACT [Orphanet:518] synonym: "AMKL" EXACT ABBREVIATION [NCIT:C3170, Orphanet:518] synonym: "AML M7" EXACT [Orphanet:518] synonym: "FAB M7" EXACT [NCIT:C3170] synonym: "leukemia, megakaryocytic, malignant" EXACT [NCIT:C3170] synonym: "megakaryocytic leukaemia" RELATED OMO:0003005 [] synonym: "megakaryocytic leukemia" RELATED [DOID:8761] synonym: "megakaryocytic myelosis" EXACT [DOID:8761] synonym: "megakaryocytic myelosis" EXACT [DOID:8761, MTHICD9_2006:207.2] synonym: "thrombocytic leukaemia" EXACT OMO:0003005 [] synonym: "thrombocytic leukaemia" EXACT [DOID:8761] synonym: "thrombocytic leukemia" EXACT [DOID:8761] xref: DOID:8761 {source="MONDO:equivalentTo"} xref: EFO:0003025 {source="MONDO:equivalentTo"} xref: GARD:0000524 {source="MONDO:equivalentTo"} xref: ICD10:C94.2 {source="ORDO:518/ntbt", source="Orphanet:518", source="DOID:8761"} xref: ICD10:C94.20 {source="DOID:8761"} xref: ICD9:207.2 {source="DOID:8761"} xref: ICDO:9910/3 {source="NCIT:C3170"} xref: MedDRA:C0023462 {source="EFO:0003025"} xref: MESH:D007947 {source="MONDO:equivalentTo", source="DOID:8761"} xref: MONDO:0018872 xref: NCIT:C3170 {source="EFO:0003025", source="MONDO:equivalentTo", source="DOID:8761"} xref: ONCOTREE:AMKL {source="MONDO:equivalentTo"} xref: Orphanet:518 {source="MONDO:equivalentTo"} xref: SCTID:277602003 {source="EFO:0003025", source="MONDO:equivalentTo", source="DOID:8761"} xref: UMLS:C0023462 {source="MONDO:equivalentTo", source="Orphanet:518", source="DOID:8761", source="NCIT:C3170"} xref: Wikipedia:Acute_megakaryoblastic_leukemia {source="EFO:0003025"} is_a: MONDO:0015667 {source="Orphanet:518"} ! acute myeloid leukemia by FAB classification property_value: closeMatch http://identifiers.org/meddra/C0023462 property_value: closeMatch http://identifiers.org/meddra/C0023462 property_value: closeMatch http://identifiers.org/snomedct/188754005 property_value: closeMatch http://identifiers.org/snomedct/190065009 property_value: closeMatch http://identifiers.org/snomedct/190067001 property_value: closeMatch http://identifiers.org/snomedct/52220008 property_value: closeMatch http://identifiers.org/snomedct/94149003 property_value: exactMatch DOID:8761 property_value: exactMatch DOID:8761 property_value: exactMatch http://identifiers.org/mesh/D007947 property_value: exactMatch http://identifiers.org/mesh/D007947 property_value: exactMatch http://identifiers.org/snomedct/277602003 property_value: exactMatch http://identifiers.org/snomedct/277602003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023462 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023462 property_value: exactMatch NCIT:C3170 property_value: exactMatch NCIT:C3170 property_value: exactMatch Orphanet:518 property_value: excluded_subClassOf MONDO:0011118 {source="EFO:0003025"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/524/acute-megakaryoblastic-leukemia xsd:anyURI {source="GARD:0000524"} [Term] id: EFO:0003026 name: minimally differentiated acute myeloblastic leukemia alt_id: MONDO:0020318 def: "An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. (WHO, 2001)" [NCIT:C8460] subset: ordo_disease {source="Orphanet:98832"} synonym: "acute myeloblastic leukaemia with minimal differentiation" EXACT OMO:0003005 [] synonym: "acute myeloblastic leukemia with minimal differentiation" EXACT [NCIT:C8460] synonym: "acute myeloblastic leukemia, minimally differentiated" EXACT [NCIT:C8460] synonym: "acute myelocytic leukaemia with minimal differentiation" EXACT OMO:0003005 [] synonym: "acute myelocytic leukemia with minimal differentiation" EXACT [NCIT:C8460] synonym: "acute myelogenous leukaemia with minimal differentiation" EXACT OMO:0003005 [] synonym: "acute myelogenous leukemia with minimal differentiation" EXACT [NCIT:C8460] synonym: "acute myeloid leukaemia with minimal differentiation (MO)" EXACT OMO:0003005 [] synonym: "acute myeloid leukemia with minimal differentiation" EXACT [] {comment="preferred label from MONDO"} synonym: "acute myeloid leukemia with minimal differentiation" EXACT [NCIT:C8460] synonym: "acute myeloid leukemia with minimal differentiation" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "acute myeloid leukemia with minimal differentiation (MO)" EXACT [NCIT:C8460] synonym: "acute myeloid leukemia, minimally differentiated" EXACT [NCIT:C8460] synonym: "AML M0" EXACT [Orphanet:98832] synonym: "AML with minimal differentiation" EXACT [NCIT:C8460] synonym: "AMLMD" RELATED ABBREVIATION [ONCOTREE:AMLMD] synonym: "M0 acute granulocytic leukaemia" EXACT OMO:0003005 [] synonym: "M0 acute granulocytic leukaemia with minimal differentiation" EXACT OMO:0003005 [] synonym: "M0 acute granulocytic leukemia" EXACT [NCIT:C8460] synonym: "M0 acute granulocytic leukemia with minimal differentiation" EXACT [NCIT:C8460] synonym: "M0 acute myeloblastic leukaemia" EXACT OMO:0003005 [] synonym: "M0 acute myeloblastic leukemia" EXACT [NCIT:C8460] synonym: "M0 acute myelocytic leukaemia" EXACT OMO:0003005 [] synonym: "M0 acute myelocytic leukemia" EXACT [NCIT:C8460] synonym: "M0 acute myelogenous leukaemia" EXACT OMO:0003005 [] synonym: "M0 acute myelogenous leukaemia with minimal differentiation" EXACT OMO:0003005 [] synonym: "M0 acute myelogenous leukemia" EXACT [NCIT:C8460] synonym: "M0 acute myelogenous leukemia with minimal differentiation" EXACT [NCIT:C8460] synonym: "M0 myeloid leukaemia" EXACT OMO:0003005 [] synonym: "M0 myeloid leukaemia with minimal differentiation" EXACT OMO:0003005 [] synonym: "M0 myeloid leukemia" EXACT [NCIT:C8460] synonym: "M0 myeloid leukemia with minimal differentiation" EXACT [NCIT:C8460] synonym: "minimally differentiated acute myeloblastic leukaemia" EXACT OMO:0003005 [] synonym: "minimally differentiated acute myeloblastic leukemia" EXACT [Orphanet:98832] xref: DOID:0081085 {source="MONDO:equivalentTo"} xref: EFO:0003026 {source="MONDO:equivalentTo"} xref: ICD10:C92.0 {source="Orphanet:98832", source="ORDO:98832/ntbt"} xref: ICDO:9872/3 {source="NCIT:C8460"} xref: MONDO:0005223 xref: NCIT:C8460 {source="EFO:0003026", source="MONDO:equivalentTo"} xref: ONCOTREE:AMLMD {source="MONDO:equivalentTo"} xref: Orphanet:98832 {source="MONDO:equivalentTo"} xref: UMLS:C0522631 {source="Orphanet:98832", source="MONDO:equivalentTo", source="NCIT:C8460"} is_a: MONDO:0015667 {source="Orphanet:98832"} ! acute myeloid leukemia by FAB classification property_value: exactMatch DOID:0081085 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0522631 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0522631 property_value: exactMatch NCIT:C8460 property_value: exactMatch NCIT:C8460 property_value: exactMatch Orphanet:98832 property_value: excluded_subClassOf MONDO:0011118 {source="EFO:0003026"} [Term] id: EFO:0003027 name: acute myeloblastic leukemia without maturation def: "An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils. (WHO, 2001)" [NCIT:P378] subset: gard_rare {source="GARD:0000526"} subset: ordo_disease {source="Orphanet:98833"} synonym: "acute granulocytic leukaemia without maturation" EXACT OMO:0003005 [] synonym: "acute granulocytic leukemia without maturation" EXACT [NCIT:C3249] synonym: "acute M1 myeloid leukaemia" EXACT OMO:0003005 [] synonym: "acute M1 myeloid leukemia" EXACT [NCIT:C3249] synonym: "acute myeloblastic leukaemia M1" EXACT OMO:0003005 [] synonym: "acute myeloblastic leukaemia type 1" RELATED OMO:0003005 [] synonym: "acute myeloblastic leukemia M1" EXACT [Orphanet:98833] synonym: "acute myeloblastic leukemia type 1" RELATED [GARD:0000526] synonym: "acute myeloblastic leukemia without maturation" EXACT [] {comment="preferred label from MONDO"} synonym: "acute myeloblastic leukemia without maturation" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "acute myelocytic leukaemia without maturation" EXACT OMO:0003005 [] synonym: "acute myelocytic leukemia without maturation" EXACT [NCIT:C3249] synonym: "acute myelogenous leukaemia without maturation" EXACT OMO:0003005 [] synonym: "acute myelogenous leukemia without maturation" EXACT [NCIT:C3249] synonym: "acute myeloid leukaemia without maturation" EXACT OMO:0003005 [] synonym: "acute myeloid leukaemia without maturation (FAB M1)" EXACT OMO:0003005 [] synonym: "acute myeloid leukemia without maturation" EXACT [NCIT:C3249] synonym: "acute myeloid leukemia without maturation (FAB M1)" EXACT [NCIT:C3249] synonym: "AML M1" EXACT [Orphanet:98833] synonym: "AML without maturation" EXACT [NCIT:C3249] synonym: "AWM" RELATED ABBREVIATION [ONCOTREE:AWM] synonym: "FAB M1" EXACT [NCIT:C3249] synonym: "M1 acute granulocytic leukaemia" EXACT OMO:0003005 [] synonym: "M1 acute granulocytic leukaemia without maturation" EXACT OMO:0003005 [] synonym: "M1 acute granulocytic leukemia" EXACT [NCIT:C3249] synonym: "M1 acute granulocytic leukemia without maturation" EXACT [NCIT:C3249] synonym: "M1 acute myeloblastic leukaemia" EXACT OMO:0003005 [] synonym: "M1 acute myeloblastic leukaemia without maturation" EXACT OMO:0003005 [] synonym: "M1 acute myeloblastic leukemia" EXACT [NCIT:C3249] synonym: "M1 acute myeloblastic leukemia without maturation" EXACT [NCIT:C3249] synonym: "M1 acute myelocytic leukaemia" EXACT OMO:0003005 [] synonym: "M1 acute myelocytic leukaemia without maturation" EXACT OMO:0003005 [] synonym: "M1 acute myelocytic leukemia" EXACT [NCIT:C3249] synonym: "M1 acute myelocytic leukemia without maturation" EXACT [NCIT:C3249] synonym: "M1 acute myelogenous leukaemia" EXACT OMO:0003005 [] synonym: "M1 acute myelogenous leukaemia without maturation" EXACT OMO:0003005 [] synonym: "M1 acute myelogenous leukemia" EXACT [NCIT:C3249] synonym: "M1 acute myelogenous leukemia without maturation" EXACT [NCIT:C3249] synonym: "M1 acute myeloid leukaemia" EXACT OMO:0003005 [] synonym: "M1 acute myeloid leukaemia without maturation" EXACT OMO:0003005 [] synonym: "M1 acute myeloid leukemia" EXACT [NCIT:C3249] synonym: "M1 acute myeloid leukemia without maturation" EXACT [NCIT:C3249] xref: DOID:0081086 {source="MONDO:equivalentTo"} xref: EFO:0003027 {source="MONDO:equivalentTo"} xref: GARD:0000526 {source="MONDO:equivalentTo"} xref: ICD10:C92.0 {source="Orphanet:98833", source="ORDO:98833/ntbt"} xref: ICDO:9873/3 {source="NCIT:C3249"} xref: MONDO:0005224 xref: NCIT:C3249 {source="EFO:0003027", source="MONDO:equivalentTo"} xref: ONCOTREE:AWM {source="MONDO:equivalentTo"} xref: Orphanet:98833 {source="MONDO:equivalentTo"} xref: SCTID:359640008 {source="MONDO:equivalentTo"} is_a: MONDO:0015667 {source="NCIT:C3249"} ! acute myeloid leukemia by FAB classification property_value: closeMatch http://identifiers.org/snomedct/103690005 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0026998 property_value: exactMatch DOID:0081086 property_value: exactMatch http://identifiers.org/snomedct/359640008 property_value: exactMatch http://identifiers.org/snomedct/359640008 property_value: exactMatch NCIT:C3249 property_value: exactMatch NCIT:C3249 property_value: exactMatch Orphanet:98833 property_value: excluded_subClassOf MONDO:0011118 {source="EFO:0003027"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/526/acute-myeloblastic-leukemia-without-maturation xsd:anyURI {source="GARD:0000526"} [Term] id: EFO:0003028 name: acute myeloblastic leukemia with maturation def: "An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. (WHO, 2001)" [NCIT:P378] subset: gard_rare {source="GARD:0000527"} subset: ordo_disease {source="Orphanet:98834"} synonym: "acute M2 myeloid leukaemia" EXACT OMO:0003005 [] synonym: "acute M2 myeloid leukemia" EXACT [NCIT:C3250] synonym: "acute myeloblastic leukaemia M2" EXACT OMO:0003005 [] synonym: "acute myeloblastic leukaemia type 2" RELATED OMO:0003005 [] synonym: "acute myeloblastic leukemia M2" EXACT [Orphanet:98834] synonym: "acute myeloblastic leukemia type 2" RELATED [GARD:0000527] synonym: "acute myeloblastic leukemia with maturation" EXACT [] {comment="preferred label from MONDO"} synonym: "acute myeloblastic leukemia with maturation" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "acute myelocytic leukaemia with maturation" EXACT OMO:0003005 [] synonym: "acute myelocytic leukemia with maturation" EXACT [NCIT:C3250] synonym: "acute myelogenous leukaemia with maturation" EXACT OMO:0003005 [] synonym: "acute myelogenous leukemia with maturation" EXACT [NCIT:C3250] synonym: "acute myeloid leukaemia (AML-M2)" EXACT OMO:0003005 [] synonym: "acute myeloid leukaemia with maturation" EXACT OMO:0003005 [] synonym: "acute myeloid leukemia (AML-M2)" EXACT [NCIT:C3250] synonym: "acute myeloid leukemia with maturation" EXACT [NCIT:C3250] synonym: "AM" RELATED ABBREVIATION [ONCOTREE:AM] synonym: "AML M2" EXACT [Orphanet:98834] synonym: "AML with maturation" EXACT [NCIT:C3250] synonym: "FAB M2" EXACT [NCIT:C3250] synonym: "LAM M2" RELATED [GARD:0000527] synonym: "M2 acute granulocytic leukaemia" EXACT OMO:0003005 [] synonym: "M2 acute granulocytic leukemia" EXACT [NCIT:C3250] synonym: "M2 acute myeloblastic leukaemia" EXACT OMO:0003005 [] synonym: "M2 acute myeloblastic leukaemia with maturation" EXACT OMO:0003005 [] synonym: "M2 acute myeloblastic leukemia" EXACT [NCIT:C3250] synonym: "M2 acute myeloblastic leukemia with maturation" EXACT [NCIT:C3250] synonym: "M2 acute myelocytic leukaemia with maturation" EXACT OMO:0003005 [] synonym: "M2 acute myelocytic leukemia with maturation" EXACT [NCIT:C3250] synonym: "M2 acute myelogenous leukaemia" EXACT OMO:0003005 [] synonym: "M2 acute myelogenous leukaemia with maturation" EXACT OMO:0003005 [] synonym: "M2 acute myelogenous leukemia" EXACT [NCIT:C3250] synonym: "M2 acute myelogenous leukemia with maturation" EXACT [NCIT:C3250] synonym: "M2 acute myeloid leukaemia" EXACT OMO:0003005 [] synonym: "M2 acute myeloid leukaemia with maturation" EXACT OMO:0003005 [] synonym: "M2 acute myeloid leukemia" EXACT [NCIT:C3250] synonym: "M2 acute myeloid leukemia with maturation" EXACT [NCIT:C3250] xref: DOID:0081087 {source="MONDO:equivalentTo"} xref: EFO:0003028 {source="MONDO:equivalentTo"} xref: GARD:0000527 {source="MONDO:equivalentTo"} xref: ICD10:C92.0 {source="Orphanet:98834", source="ORDO:98834/ntbt"} xref: ICDO:9874/3 {source="NCIT:C3250"} xref: MONDO:0020320 xref: NCIT:C3250 {source="MONDO:equivalentTo", source="EFO:0003028"} xref: ONCOTREE:AM {source="MONDO:equivalentTo"} xref: Orphanet:98834 {source="MONDO:equivalentTo"} is_a: MONDO:0015667 {source="NCIT:C3250"} ! acute myeloid leukemia by FAB classification property_value: closeMatch http://identifiers.org/snomedct/103691009 property_value: exactMatch DOID:0081087 property_value: exactMatch NCIT:C3250 property_value: exactMatch NCIT:C3250 property_value: exactMatch Orphanet:98834 property_value: excluded_subClassOf MONDO:0011118 {source="EFO:0003028"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/527/acute-myeloblastic-leukemia-with-maturation xsd:anyURI {source="GARD:0000527"} [Term] id: EFO:0003029 name: acute basophilic leukemia def: "A rare acute myeloid leukemia in which the immature cells differentiate towards basophils." [NCIT:C3164] subset: ordo_disease {source="Orphanet:86849"} synonym: "acute basophilic leukemia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "acute basophilic leukemia" EXACT [] {comment="preferred label from MONDO"} synonym: "basophilic leukaemia" EXACT OMO:0003005 [] synonym: "basophilic leukemia" EXACT [NCIT:C3164] synonym: "leukaemia basophilic" EXACT OMO:0003005 [] synonym: "leukemia basophilic" EXACT [NCIT:C3164] xref: DOID:0080795 {source="MONDO:equivalentTo"} xref: EFO:0003029 {source="MONDO:equivalentTo"} xref: ICD10:C94.7 {source="ORDO:86849/ntbt", source="Orphanet:86849"} xref: ICDO:9870/3 {source="NCIT:C3164"} xref: MESH:D015471 {source="MONDO:equivalentTo", source="ORDO:86849/e", source="Orphanet:86849"} xref: MESH:D015471 {source="Orphanet:86849/e", source="MONDO:equivalentTo", source="Orphanet:86849"} xref: MONDO:0019458 xref: NCIT:C3164 {source="EFO:0003029", source="MONDO:equivalentTo"} xref: ONCOTREE:ABL {source="MONDO:equivalentTo"} xref: Orphanet:86849 {source="MONDO:equivalentTo"} xref: SCTID:307592006 {source="MONDO:equivalentTo"} xref: UMLS:C0023437 {source="NCIT:C3164", source="MONDO:equivalentTo", source="ORDO:86849/e", source="Orphanet:86849"} xref: UMLS:C0023437 {source="Orphanet:86849/e", source="NCIT:C3164", source="MONDO:equivalentTo", source="Orphanet:86849"} xref: UMLS:C0221292 {source="MONDO:equivalentTo"} is_a: MONDO:0015667 {source="NCIT:C27753"} ! acute myeloid leukemia by FAB classification property_value: closeMatch http://identifiers.org/snomedct/69077002 property_value: exactMatch DOID:0080795 property_value: exactMatch http://identifiers.org/mesh/D015471 property_value: exactMatch http://identifiers.org/mesh/D015471 property_value: exactMatch http://identifiers.org/snomedct/307592006 property_value: exactMatch http://identifiers.org/snomedct/307592006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023437 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023437 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221292 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221292 property_value: exactMatch NCIT:C3164 property_value: exactMatch NCIT:C3164 property_value: exactMatch Orphanet:86849 property_value: excluded_subClassOf MONDO:0011118 {source="EFO:0003029"} [Term] id: EFO:0003030 name: abscess def: "An abscess (Latin: abscessus) is a collection of pus that has built up within the tissue of the body. Signs and symptoms of abscesses include: redness, pain, warmth, and swelling that when pressed feels like it is fluid filled.[1] The area of redness often extends beyond the swelling. Carbuncles and furuncles are types of abscess that often involves hair follicles with carbuncles being larger" [] def: "An inflammatory process characterized by the accumulation of pus within a newly formed tissue cavity which is the result of a bacterial, fungal, or parasitic infection or the presence of a foreign body." [NCIT:P378] synonym: "abscess" EXACT [] {comment="preferred label from MONDO"} synonym: "abscess (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "abscess (disorder)" EXACT [] synonym: "abscess morphology" EXACT [] synonym: "abscess NOS" EXACT [] synonym: "abscess NOS (disorder)" EXACT [] xref: ICD9:682.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:682.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10000269 xref: MESH:D000038 {source="MONDO:equivalentTo", source="EFO:0003030"} xref: MeSH:D000038 xref: MONDO:0005227 xref: NCIT:C26686 {source="MONDO:equivalentTo", source="EFO:0003030"} xref: NCIt:C26686 xref: SCTID:128477000 {source="MONDO:equivalentTo", source="EFO:0003030"} xref: SNOMEDCT:128477000 xref: UMLS:C0000833 {source="MONDO:equivalentTo", source="NCIT:C26686"} xref: Wikipedia:Abscess {source="EFO:0003030"} is_a: EFO:0005741 {source="EFO:0003030/inferred", source="MONDO:Redundant", source="NCIT:C26686"} ! infectious disease property_value: exactMatch http://identifiers.org/mesh/D000038 property_value: exactMatch http://identifiers.org/snomedct/128477000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0000833 property_value: exactMatch NCIT:C26686 property_value: excluded_subClassOf MONDO:0005113 {source="EFO:0003030"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: IAO:0000589 "abscess (disease)" xsd:string [Term] id: EFO:0003032 name: anaplastic large cell lymphoma def: "Anaplastic large cell lymphoma (ALCL) is a rare and aggressive peripheral T-cell non-Hodgkin lymphoma, belonging to the group of CD30-positive lymphoproliferative disorders, which affects lymph nodes and extranodal sites. It is comprised of two sub-types, based on the expression of a protein called anaplastic lymphoma kinase (ALK): ALK positive and ALK negative ALCL." [Orphanet:98841] subset: gard_rare {source="GARD:0003112"} subset: ordo_disease {source="Orphanet:98841"} synonym: "ALCL" EXACT ABBREVIATION [NCIT:C3720, Orphanet:98841] synonym: "anaplastic large cell lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "anaplastic large cell lymphoma" EXACT [MONDO:0005228, NCIT:C3720] synonym: "anaplastic large cell lymphoma" EXACT [] {comment="preferred label from MONDO"} synonym: "CD30 Positive anaplastic large cell lymphoma" EXACT [NCIT:C3720] synonym: "CD30 positive anaplastic large cell lymphoma" EXACT [Orphanet:98841] synonym: "Ki-1 lymphoma" EXACT [NCIT:C3720] synonym: "Ki-1 positive anaplastic large cell lymphoma" EXACT [Orphanet:98841] synonym: "Ki-1+ ALCL" EXACT [NCIT:C3720] synonym: "Ki-1+ anaplastic large cell lymphoma" EXACT [NCIT:C3720] synonym: "primary systemic ALCL" EXACT [Orphanet:98841] synonym: "sACL" EXACT [Orphanet:98841] xref: COHD:441235 {source="MONDO:equivalentTo"} xref: DOID:0050744 {source="MONDO:equivalentTo", source="EFO:0003032"} xref: EFO:0003032 {source="MONDO:equivalentTo"} xref: GARD:0003112 {source="MONDO:equivalentTo"} xref: HGNC:427 {source="GARD:0003112"} xref: ICD10:C84.6 {source="Orphanet:98841", source="ORDO:98841/btnt"} xref: ICD10:C84.7 {source="Orphanet:98841", source="ORDO:98841/btnt"} xref: ICD9:200.6 {source="EFO:0003032"} xref: ICD9:200.60 {source="MONDO:equivalentTo", source="i2s"} xref: ICD9:200.60 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICDO:9714/3 {source="NCIT:C3720"} xref: MESH:D017728 {source="Orphanet:98841", source="MONDO:equivalentTo", source="ORDO:98841/e"} xref: MESH:D017728 {source="Orphanet:98841", source="MONDO:equivalentTo", source="Orphanet:98841/e"} xref: MONDO:0020325 xref: NCIT:C3720 {source="MONDO:equivalentTo", source="EFO:0003032"} xref: ONCOTREE:ALCL {source="MONDO:equivalentTo"} xref: Orphanet:98841 {source="MONDO:equivalentTo"} xref: SCTID:277637000 {source="MONDO:equivalentTo"} xref: UMLS:C0206180 {source="Orphanet:98841", source="MONDO:equivalentTo", source="NCIT:C3720"} is_a: MONDO:0000430 ! mature T-cell and NK-cell non-Hodgkin lymphoma property_value: exactMatch DOID:0050744 property_value: exactMatch DOID:0050744 property_value: exactMatch http://identifiers.org/mesh/D017728 property_value: exactMatch http://identifiers.org/mesh/D017728 property_value: exactMatch http://identifiers.org/snomedct/277637000 property_value: exactMatch http://identifiers.org/snomedct/277637000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206180 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206180 property_value: exactMatch NCIT:C3720 property_value: exactMatch NCIT:C3720 property_value: exactMatch Orphanet:98841 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3112/anaplastic-large-cell-lymphoma xsd:anyURI {source="GARD:0003112"} [Term] id: EFO:0003033 name: bacteriemia def: "An infectious disease caused by bacteria causing sepsis." [MONDO:cjm] def: "Bacteremia (also bacteraemia) is the presence of bacteria in the blood. Blood is normally a sterile environment, so the detection of bacteria in the blood (most commonly accomplished by blood cultures) is always abnormal. Bacteria can enter the bloodstream as a severe complication of infections (like pneumonia or meningitis), during surgery (especially when involving mucous membranes such as the gastrointestinal tract), or due to catheters and other foreign bodies entering the arteries or veins (including during intravenous drug abuse).\n\nBacteremia can have several consequences. The immune response to the bacteria can cause sepsis and septic shock, which has a relatively high mortality rate. Bacteria can also use the blood to spread to other parts of the body (which is called hematogenous spread), causing infections away from the original site of infection. Examples include endocarditis or osteomyelitis. Treatment is with antibiotics, and prevention with antibiotic prophylaxis can be given in situations where problems are to be expected." [] synonym: "bacteraemia" EXACT [] synonym: "bacteremia" BROAD [MESH:D016470] synonym: "bacteremia" EXACT [] synonym: "Bacteremia (disorder)" EXACT [] synonym: "Bacteremia NOS (disorder)" EXACT [] synonym: "Bacteremia, NOS" EXACT [] synonym: "Bacteremias" BROAD [MESH:D016470] synonym: "bacterial infectious disease with sepsis" EXACT [] {comment="preferred label from MONDO"} synonym: "bacterial sepsis" RELATED [DOID:0040085] synonym: "symptomatic bacteremia" EXACT [MONDO:cjm] synonym: "Unspecified bacteraemia" EXACT [] synonym: "Unspecified bacteremia" EXACT [] synonym: "Unspecified bacteremia (context-dependent category)" EXACT [] xref: DOID:0040085 {source="MONDO:equivalentTo"} xref: ICD9:790.7 {source="EFO:0003033"} xref: MESH:D016470 {source="EFO:0003033", source="MONDO:equivalentTo"} xref: MeSH:D016470 xref: MONDO:0005229 xref: NCIt:C102993 xref: SCTID:5758002 {source="EFO:0003033", source="MONDO:equivalentTo"} xref: SNOMEDCT:5758002 xref: UMLS:C0004610 {source="MONDO:equivalentTo"} xref: Wikipedia:Bacteremia {source="EFO:0003033"} is_a: EFO:0000771 {source="EFO:0003033", source="MESH:D016470", source="MONDO:Redundant"} ! bacterial disease property_value: exactMatch DOID:0040085 property_value: exactMatch http://identifiers.org/mesh/D016470 property_value: exactMatch http://identifiers.org/snomedct/5758002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004610 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003035 name: cellulitis def: "Cellulitis is a bacterial infection involving the skin. It specifically affects the dermis and subcutaneous fat. Signs and symptoms include an area of redness which increases in size over a couple of days. The borders of the area of redness are generally not sharp and the skin may be swollen. While the redness often turns white when pressure is applied this is not always the case. The area of infection is usually painful. Lymphatic vessels may occasionally be involved and the person may have a fever and feel tired." [] def: "Inflammation of the dermis and subcutaneous tissues caused by a bacterial infection. Symptoms include erythema, edema, and pain to the affected area." [NCIT:C26715] synonym: "cellulitis" EXACT [] {comment="preferred label from MONDO"} synonym: "cellulitis" EXACT [MONDO:ambiguous] synonym: "cellulitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Other cellulitis and abscess" EXACT [] xref: DOID:3488 {source="EFO:0003035", source="MONDO:equivalentTo"} xref: HP:0100658 {source="MONDO:otherHierarchy"} xref: ICD10:L03 xref: ICD9:682.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:682.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10007882 xref: MESH:D002481 {source="EFO:0003035", source="DOID:3488", source="MONDO:equivalentTo"} xref: MeSH:D002481 xref: MONDO:0005230 xref: NCIT:C26715 {source="EFO:0003035", source="DOID:3488", source="MONDO:equivalentTo"} xref: NCIt:C26715 xref: SCTID:128045006 {source="EFO:0003035", source="DOID:3488", source="MONDO:equivalentTo"} xref: SNOMEDCT:128045006 xref: SNOMEDCT:385627004 xref: Wikipedia:Cellulitis {source="EFO:0003035"} is_a: EFO:1000774 ! vesiculobullous skin disease is_a: MONDO:0024295 ! skin disease caused by bacterial infection relationship: EFO:0000784 UBERON:0000014 ! has_disease_location zone of skin property_value: exactMatch DOID:3488 property_value: exactMatch http://identifiers.org/mesh/D002481 property_value: exactMatch http://identifiers.org/snomedct/128045006 property_value: exactMatch NCIT:C26715 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: IAO:0000589 "cellulitis (disease)" xsd:string [Term] id: EFO:0003036 name: clear cell def: "A cell with empty-appearing cytoplasm when viewed with a light microscope." [] synonym: "Clear Cells" EXACT [] xref: NCIt:C12478 is_a: EFO:0000324 ! cell type property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: seeAlso https://github.com/EBISPOT/efo/issues/908 xsd:string [Term] id: EFO:0003037 name: CMK xref: MCC:0000105 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0003025 ! acute megakaryoblastic leukaemia property_value: definition:citation https://www.ncbi.nlm.nih.gov/pubmed/2665839 xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003038 name: obsolete_colon mucosa synonym: "colonic mucosa" EXACT [] xref: BTO:0000271 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000317\nlabel: colonic mucosa" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000317 [Term] id: EFO:0003039 name: EAhy 926 cell def: "The EAhy 926 cell is a hybridoma line derived from human endothelium and A549/8 cells. They display stable endothelial characteristics and may provide an indication of how endothelial cells respond to photodynamic therapy." [] synonym: "EA.hy926 cell" EXACT [] xref: BTO:0000396 xref: RRID:CVCL_3901 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0001071 ! lung carcinoma property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003040 name: embryonic cell line xref: BTO:0000669 is_a: CL:0000010 ! cultured cell property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003041 name: obsolete_esophageal epithelium xref: NCIt:C49221 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with UBERON_0001976" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001976 [Term] id: EFO:0003042 name: H1-hESC def: "H1 human embryonic stem cell line, usually called H1-hESC and on occasion just H1" [] synonym: "H1" EXACT [] xref: PMID:18564034 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0003040 ! embryonic cell line is_a: EFO:0005738 ! ESC derived cell line property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003043 name: NCI-H1299 xref: CLO:0007986 xref: MCC:0000352 xref: RRID:CVCL_0060 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0001071 ! lung carcinoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003044 name: NCI-H460 synonym: "H-460" EXACT [] synonym: "H460" EXACT [] synonym: "NCI-460" EXACT [] synonym: "NCI-HUT-460" EXACT [] xref: BTO:0002207 xref: CLO:0008089 xref: MCC:0000356 xref: NCIt:C117157 xref: RRID:CVCL_0459 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0003050 ! large cell lung carcinoma property_value: definition:citation https://www.atcc.org/Products/All/HTB-177.aspx xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003045 name: H9 def: "This human ES cell line expresses cell surface markers specific to undifferentiated nonhuman primate ES and human EC cells: stage-specific embryonic antigen (SSEA)–3, SSEA-4, TRA-l-60, TRA-1- 81, and alkaline phosphatase. It has a normal 46, XX karyotype. Teratomas are formed upon cell injection into SCID mice. These teratomas include cells from all three germ layers.\n\nIsolation & Growth Conditions\nThis cell line can be cultured using feeder cells or in a feeder-free protocol. When using feeder cells, human ESC culture medium should be compreised of Advanced DMEM/F12 supplemented with knockout serum replacement (20%), non-essential amino acids (1x), L-glutamine (1x), penicillin/streptomycin (1x), β-mercaptoethanol (1x) and FGF-2 (4 ng/ml). Maintain the human ESCs on Matrigel using hESC medium conditioned by mouse embryonic fibroblasts." [] xref: PMID:18564034 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0003040 ! embryonic cell line is_a: EFO:0005738 ! ESC derived cell line property_value: IAO:0000117 "Olamidipupo Ajigboye" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003046 name: heart transplant rejection def: "A body response in rejection to a heart transplant. Your immune system will see your donor heart as a foreign object that's not supposed to be in your body. Your immune system will try to attack your donor heart. Although all people who receive a heart transplant receive immunosuppressants — medications that reduce the activity of the immune system — nearly 25 percent of heart transplant recipients still have some signs of rejection during the first year after transplantation." [] xref: MedDRA:10019315 is_a: GO:0008150 ! biological_process relationship: BFO:0000066 UBERON:0000948 ! occurs in heart property_value: definition:citation http://www.mayoclinic.org/tests-procedures/heart-transplant/basics/risks/prc-20014050 xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003047 name: hepatitis C virus infection def: "A Hepacivirus infectious disease and is_a viral hepatitis that results_in inflammation located_in liver, has_agent Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice." [] def: "A Hepacivirus infectious disease which is a chronic bloodborne infectious disease caused by Hepatitis C virus. The symptoms include fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain and jaundice." [] def: "A viral hepatitis and is_a Hepacivirus infectious disease, that results_in inflammation located_in liver, has_agent Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice." [] def: "A viral infection caused by the hepatitis C virus." [NCIT:C3098] synonym: "acute hepatitis C with hepatic coma" EXACT [] synonym: "chronic hepatitis C" NARROW [DOID:1883] synonym: "HCV infection" EXACT [] synonym: "hepatitis C" EXACT [] synonym: "Hepatitis C (disorder)" EXACT [] synonym: "hepatitis C infection" EXACT [DOID:1883] synonym: "Hepatitis C virus caused hepatitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Hepatitis C virus hepatitis" EXACT [] synonym: "hepatitis C virus infection" EXACT [] {comment="preferred label from MONDO"} synonym: "Hepatitis non-A non-B (disorder)" EXACT [] synonym: "hepatitis Nona nonB" EXACT [DOID:1883] synonym: "hepatitis nonA nonB" EXACT [] synonym: "hepatitis type C" EXACT [DOID:1883, MONDORULE:1] synonym: "NANBH" EXACT ABBREVIATION [DOID:1883, NCIT:C3098] synonym: "non-A, non-B Hepatitis" EXACT [NCIT:C3098] synonym: "Viral hepatitis C" EXACT [] synonym: "viral hepatitis C" EXACT [DOID:1883] synonym: "Viral hepatitis C (disorder)" EXACT [] xref: DOID:1883 {source="MONDO:equivalentTo"} xref: ICD9:070.41 {source="EFO:0003047"} xref: ICD9:070.54 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:070.7 {source="DOID:1883"} xref: MESH:D006526 {source="DOID:1883", source="MONDO:equivalentTo"} xref: MONDO:0005231 xref: NCIT:C3098 {source="EFO:0003047", source="DOID:1883", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIt:C3098 xref: SCTID:128302006 {source="MONDO:equivalentTo"} xref: SNOMEDCT:50711007 xref: UMLS:C0019196 {source="DOID:1883", source="NCIT:C3098", source="MONDO:equivalentTo"} is_a: EFO:0004196 {source="EFO:0003047", source="MESH:D006526", source="MONDO:Redundant", source="NCIT:C3098/inferred"} ! viral human hepatitis infection property_value: exactMatch DOID:1883 property_value: exactMatch http://identifiers.org/mesh/D006526 property_value: exactMatch http://identifiers.org/snomedct/128302006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019196 property_value: exactMatch NCIT:C3098 property_value: excluded_subClassOf MONDO:0005093 {source="DOID:1883", source="MONDO:Redundant"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003048 name: HES2 synonym: "HES-2" EXACT [] xref: PMID:10748519 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0003040 ! embryonic cell line is_a: EFO:0005738 ! ESC derived cell line property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003049 name: obsolete_ilium def: "The broad, dorsal, upper, and widest of the three principal bones composing either half of the pelvis." [] synonym: "Iliac" EXACT [] xref: NCIt:C32765 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001273\nlabel: ilium" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001273 [Term] id: EFO:0003050 name: large cell lung carcinoma alt_id: MONDO:0006024 def: "A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation. There is a male predilection." [NCIT:C4450] synonym: "anaplastic lung carcinoma" EXACT [NCIT:C4450] synonym: "large cell carcinoma of lung" EXACT [NCIT:C4450] synonym: "large cell carcinoma of the lung" EXACT [NCIT:C4450] synonym: "large cell lung cancer" EXACT [NCIT:C4450] synonym: "large cell lung carcinoma" EXACT [DOID:4556, NCIT:C4450] synonym: "large cell undifferentiated lung carcinoma" EXACT [NCIT:C4450] synonym: "LCLC" RELATED ABBREVIATION [ONCOTREE:LCLC] synonym: "lung large cell carcinoma" EXACT [MONDO:patterns/location] synonym: "lung large cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "lung large cell carcinoma" EXACT [] {comment="preferred label from MONDO"} xref: DOID:4556 {source="MONDO:equivalentTo"} xref: EFO:0003050 {source="MONDO:equivalentTo"} xref: EFO:1000016 {source="MONDO:equivalentTo"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="i2s"} xref: MONDO:0003050 xref: NCIT:C4450 {source="DOID:4556", source="MONDO:equivalentTo", source="EFO:1000016"} xref: ONCOTREE:LCLC {source="MONDO:equivalentTo"} xref: SCTID:254629004 {source="DOID:4556", source="MONDO:equivalentTo"} xref: UMLS:C0345958 {source="NCIT:C4450", source="DOID:4556", source="MONDO:equivalentTo", source="EFO:1000016"} is_a: EFO:0003060 {source="DOID:4556", source="EFO:1000016", source="NCIT:C4450", source="ONCOTREE:LCLC"} ! non-small cell lung carcinoma is_a: MONDO:0005232 {source="DOID:4556", source="MONDO:Redundant", source="NCIT:C4450"} ! large cell carcinoma property_value: exactMatch DOID:4556 property_value: exactMatch DOID:4556 property_value: exactMatch http://identifiers.org/snomedct/254629004 property_value: exactMatch http://identifiers.org/snomedct/254629004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345958 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345958 property_value: exactMatch NCIT:C4450 property_value: exactMatch NCIT:C4450 [Term] id: EFO:0003051 name: obsolete_calf property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FMA_24984 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FMA_24984 [Term] id: EFO:0003052 name: obsolete_fibula xref: FMA:24479 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001446\nlabel: fibula" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001446 [Term] id: EFO:0003053 name: obsolete_forearm property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0002386 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002386 [Term] id: EFO:0003054 name: obsolete_tibia xref: FMA:24476 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000979\nlabel: tibia" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000979 [Term] id: EFO:0003055 name: LP1 synonym: "lp-1" EXACT [] xref: PMID:2784066 is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003056 name: M14 def: "The human melanoma cell line M14 has been established from surgically removed melanoma metastases." [] synonym: "M14 cell" EXACT [] xref: BTO:0002805 xref: NCIt:C117183 is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003057 name: obsolete_mediastinum def: "A group of organs surrounded by loose connective tissue, separating the two pleural sacs, between the sternum anteriorly and the vertebral column posteriorly as well as from the thoracic inlet superiorly to the diaphragm inferiorly. The mediastinum contains the heart and pericardium, the bases of the great vessels, the trachea and bronchi, esophagus, thymus, lymph nodes, thoracic duct, phrenic and vagus nerves, and other structures and tissues." [] xref: NCIt:C12748 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0003728\nlabel: mediastinum" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003728 [Term] id: EFO:0003058 name: obsolete_NCIH460 xref: MCC:0000356 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.7.1" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate of EFO_0003044" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0003044 [Term] id: EFO:0003060 name: non-small cell lung carcinoma def: "A group of at least three distinct histological types of lung cancer, including non-small cell squamous cell carcinoma, adenocarcinoma, and large cell carcinoma. Non-small cell lung carcinomas have a poor response to conventional chemotherapy." [NCIT:P378] synonym: "non-small cell cancer of lung" EXACT [NCIT:C2926] synonym: "non-small cell cancer of the lung" EXACT [NCIT:C2926] synonym: "non-small cell carcinoma of lung" EXACT [NCIT:C2926] synonym: "non-small cell carcinoma of the lung" EXACT [NCIT:C2926] synonym: "non-small cell lung cancer" EXACT [DOID:3908, NCIT:C2926] synonym: "non-small cell lung carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "non-small cell lung carcinoma" EXACT [MONDO:ambiguous, NCIT:C2926] synonym: "non-small cell lung carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "non-small cell lung carcinoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "NSCLC" EXACT ABBREVIATION [DOID:3908, NCIT:C2926, Orphanet:488201] synonym: "NSCLC" EXACT ABBREVIATION [CSP2005:4005-0042, DOID:3908, NCIT:C2926] synonym: "NSCLC - non-small cell lung cancer" EXACT [NCIT:C2926] xref: DOID:3908 {source="MONDO:equivalentTo", source="EFO:0003060"} xref: EFO:0003060 {source="DOID:3908", source="MONDO:equivalentTo"} xref: HP:0030358 {source="MONDO:otherHierarchy"} xref: ICD10:C34 {source="DOID:3908"} xref: KEGG:05223 {source="DOID:3908", source="MONDO:relatedTo"} xref: MESH:D002289 {source="DOID:3908", source="MONDO:equivalentTo", source="EFO:0003060"} xref: MONDO:0005233 xref: NCIT:C2926 {source="DOID:3908", source="MONDO:equivalentTo", source="EFO:0003060"} xref: OMIM:211980 xref: ONCOTREE:NSCLC {source="MONDO:equivalentTo"} xref: Orphanet:488201 {source="MONDO:equivalentObsolete"} xref: SCTID:254637007 {source="DOID:3908", source="MONDO:equivalentTo", source="EFO:0003060"} xref: UMLS:C0007131 {source="DOID:3908", source="NCIT:C2926", source="MONDO:equivalentTo"} is_a: EFO:0001071 {source="DOID:3908", source="EFO:0003060", source="NCIT:C2926"} ! lung carcinoma property_value: exactMatch DOID:3908 property_value: exactMatch DOID:3908 property_value: exactMatch http://identifiers.org/mesh/D002289 property_value: exactMatch http://identifiers.org/mesh/D002289 property_value: exactMatch http://identifiers.org/snomedct/254637007 property_value: exactMatch http://identifiers.org/snomedct/254637007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007131 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007131 property_value: exactMatch NCIT:C2926 property_value: exactMatch NCIT:C2926 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000589 "non-small cell lung carcinoma (disease)" xsd:string [Term] id: EFO:0003061 name: OVCAR3 synonym: "NIHOVCAR3" EXACT [] xref: BTO:0000812 xref: CLO:0008279 xref: MCC:0000363 xref: RRID:CVCL_0465 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002394 ! ovarian cancer cell lines is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0001075 ! ovarian carcinoma property_value: definition:citation https://www.atcc.org/Products/All/HTB-161.aspx xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003062 name: obsolete_peroneal nerve def: "Any one of the three (common, deep, and superficial) peroneal nerves." [] xref: MeSH:D010543 xref: NCIt:C52814 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with UBERON_0035652 fibular nerve" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0035652 [Term] id: EFO:0003063 name: polymyositis def: "A rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and elevated muscle enzymes." [https://orcid.org/0000-0001-5208-3432, Orphanet:732] def: "Polymyositis (PM)(\"inflammation of many muscles\") is a type of chronic inflammation of the muscles (inflammatory myopathy) related to dermatomyositis and inclusion body myositis." [] subset: ordo_disease {source="Orphanet:732"} synonym: "multiple myositis" EXACT [] synonym: "Myositis, Multiple" EXACT [] synonym: "PM" EXACT ABBREVIATION [Orphanet:732] synonym: "polymyositis" EXACT [] {comment="preferred label from MONDO"} synonym: "polymyositis" EXACT [MONDO:0005234] synonym: "Polymyositis (disorder)" EXACT [] synonym: "Polymyositis Ossificans" EXACT [] synonym: "Polymyositis, Idiopathic" EXACT [] xref: DOID:0080745 {source="MONDO:equivalentTo"} xref: ICD10CM:M33.2 {source="Orphanet:732", source="MONDO:equivalentTo", source="Orphanet:732/e"} xref: ICD9:710.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0003063"} xref: MedDRA:10036102 {source="Orphanet:732", source="Orphanet:732/e"} xref: MESH:D017285 {source="Orphanet:732", source="MONDO:equivalentTo", source="Orphanet:732/e", source="EFO:0003063"} xref: MeSH:D017285 xref: MONDO:0019127 xref: NCIT:C26925 {source="MONDO:equivalentTo", source="EFO:0003063"} xref: NCIt:C26925 xref: Orphanet:732 {source="MONDO:equivalentTo"} xref: SCTID:31384009 {source="MONDO:equivalentTo", source="EFO:0003063"} xref: SNOMEDCT:31384009 xref: UMLS:C0085655 {source="Orphanet:732", source="MONDO:equivalentTo", source="Orphanet:732/e", source="NCIT:C26925"} xref: Wikipedia:Polymyositis {source="EFO:0003063"} is_a: EFO:0003086 ! kidney disease is_a: EFO:1002003 ! hypersensitivity reaction disease is_a: MONDO:0015923 ! acquired peripheral neuropathy is_a: MONDO:0020122 {source="Orphanet:732", source="https://orcid.org/0000-0001-5208-3432"} ! acquired idiopathic inflammatory myopathy property_value: closeMatch http://identifiers.org/meddra/10036102 property_value: exactMatch DOID:0080745 property_value: exactMatch http://identifiers.org/mesh/D017285 property_value: exactMatch http://identifiers.org/snomedct/31384009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085655 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/M33.2 property_value: exactMatch NCIT:C26925 property_value: exactMatch Orphanet:732 property_value: excluded_subClassOf MONDO:0019724 {source="Orphanet:732"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Gautier Koscielny" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003064 name: primary cell line is_a: CL:0000010 ! cultured cell property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003065 name: obsolete_foot property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0002387 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002387 [Term] id: EFO:0003066 name: obsolete_rib xref: FMA:7574 xref: NCIt:C12782 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with UBERON_0035652" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0035652 [Term] id: EFO:0003067 name: latissimus dorsi xref: FMA:13357 is_a: UBERON:0014892 ! skeletal muscle organ property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003068 name: obsolete_shoulder xref: FMA:25202 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001467\nlabel: shoulder" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001467 [Term] id: EFO:0003069 name: obsolete_elbow synonym: "Cubital region" EXACT [] xref: FMA:24901 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001461\nlabel: elbow" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001461 [Term] id: EFO:0003070 name: obsolete_buttock property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0013691 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0013691 [Term] id: EFO:0003071 name: obsolete_sacrum synonym: "Sacral bone" EXACT [] synonym: "Sacrum [sacral vertebrae I - V]" EXACT [] xref: FMA:16202 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0003690\nlabel: sacrum" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003690 [Term] id: EFO:0003072 name: SK-N-SH synonym: "SKNSH" EXACT [] xref: MCC:0000430 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005214 ! neuroblastoma cell line relationship: has_characteristic EFO:0000621 ! neuroblastoma property_value: definition:citation http://www.atcc.org/products/all/HTB-11.aspx xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003073 name: asymptomatic myeloma def: "A plasma cell myeloma lacking clinical manifestations and organ impairment." [NCIT:C7149] synonym: "asymptomatic myeloma" EXACT [NCIT:C7149] synonym: "asymptomatic plasma cell myeloma" EXACT [NCIT:C7149] synonym: "smoldering multiple myeloma" EXACT [NCIT:C7149] synonym: "smoldering Multiple myeloma/plasma cell myeloma" EXACT [NCIT:C7149] synonym: "smoldering myeloma" EXACT [DOID:9551, NCIT:C7149] synonym: "smoldering plasma cell myeloma" EXACT [NCIT:C7149] synonym: "smoldering plasma cell myeloma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "smoldering plasma cell myeloma" EXACT [] {comment="preferred label from MONDO"} synonym: "smouldering multiple myeloma" EXACT OMO:0003005 [] synonym: "smouldering Multiple myeloma/plasma cell myeloma" EXACT OMO:0003005 [] synonym: "smouldering myeloma" EXACT OMO:0003005 [] xref: DOID:9551 {source="MONDO:equivalentTo", source="EFO:0003073"} xref: EFO:0003073 {source="MONDO:equivalentTo"} xref: MONDO:0005235 xref: NCIT:C7149 {source="MONDO:equivalentTo", source="EFO:0003073"} xref: SCTID:440422002 {source="MONDO:equivalentTo"} is_a: EFO:0001378 {source="DOID:9551", source="EFO:0003073", source="NCIT:C7149"} ! multiple myeloma property_value: closeMatch http://identifiers.org/snomedct/413587002 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1531608 property_value: exactMatch DOID:9551 property_value: exactMatch DOID:9551 property_value: exactMatch http://identifiers.org/snomedct/440422002 property_value: exactMatch http://identifiers.org/snomedct/440422002 property_value: exactMatch NCIT:C7149 property_value: exactMatch NCIT:C7149 [Term] id: EFO:0003074 name: ES cell line def: "Mouse embryonic stem cell line" [] xref: NCIt:C20232 is_a: EFO:0002887 ! mouse cell line property_value: definition:citation "Mikkelsen et al. (2007). Genome-wide maps of chromatin state in pluripotent and lineage-committed cells. Nature 448, 553-560" xsd:string [Term] id: EFO:0003075 name: xanthoma def: "A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues." [NCIT:C4071] def: "A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues. " [] synonym: "Xanthelasma" EXACT [] synonym: "xanthoma" EXACT [] {comment="preferred label from MONDO"} synonym: "xanthoma" EXACT [MONDO:ambiguous] synonym: "xanthoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Xanthomatous deposition (morphologic abnormality)" EXACT [] xref: HP:0001114 {source="MONDO:otherHierarchy"} xref: MedDRA:10048214 xref: MONDO:0005236 xref: NCIT:C4071 {source="MONDO:equivalentTo", source="EFO:0003075"} xref: NCIt:C4071 is_a: EFO:0000589 {source="EFO:0003075", source="https://www.ncbi.nlm.nih.gov/books/NBK562241/"} ! metabolic disease property_value: exactMatch NCIT:C4071 property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: IAO:0000589 "xanthoma (disease)" xsd:string [Term] id: EFO:0003076 name: thyrocyte def: "An epithelial cell lining the thyroid follicle." [] synonym: "thyroid epithelial cell" EXACT [] synonym: "thyroid follicular cell" EXACT [] xref: BTO:0003736 is_a: CL:0000066 ! epithelial cell property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003077 name: trabecular meshwork def: "A porelike structure surrounding the entire circumference of the anterior chamber through which aqueous humor circulates to the canal of Schlemm. (MeSH)" [] xref: MeSH:D014129 xref: NCIt:C12803 is_a: UBERON:0000964 ! cornea property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003078 name: obsolete_yolk sac xref: FMA:87180 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001040\nlabel: yolk sac" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001040 [Term] id: EFO:0003079 name: obsolete_X-linked agammaglobulinemia def: "A B cell deficiency that is caused by a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement." [] def: "X-linked agammaglobulinemia. An immunodeficiency state characterized (usually) by profoundly low concentrations of serum immunoglobulins of all classes, although occasionally significant amounts of one or more isotypes can be found. The fundamental defect in XLA affects early lineage B cells." [] synonym: "Bruton agammaglobulinemia tyrosine kinase deficiency" EXACT [] synonym: "Bruton's agammaglobulinaemia" EXACT [] synonym: "Bruton's Sex-Linked Agammaglobulinemia" EXACT [] synonym: "Bruton's type agammaglobulinemia" EXACT [] synonym: "Bruton's X-Linked Agammaglobulinemia" EXACT [] synonym: "Bruton-type agammaglobulinemia" EXACT [] synonym: "BTK deficiency" EXACT [] synonym: "X-linked agammaglobulinemia (disorder)" EXACT [] xref: DOID:14179 xref: NCIt:C3822 xref: OMIM:300755 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_47' instead.\nNew Label : X-linked agammaglobulinemia" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_47 [Term] id: EFO:0003081 name: SK-MEL-28 xref: MCC:0000426 xref: NCIt:C117189 is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003082 name: COLO205 xref: MCC:0000107 is_a: BTO:0001616 ! colorectal cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003083 name: pleomorphic liposarcoma def: "Pleomorphic liposarcoma (PLS), the rarest subtype of liposarcoma (LS), is an aggressive, fast growing tumor located usually in the deep soft tissues of the lower and upper extremities. It is characterized by a variable number of pleomorphic lipoblasts and, in contrast to dedifferentiated liposarcoma, it lacks any association with well-differentiated liposarcoma." [Orphanet:99969] subset: ordo_histopathological_subtype {source="Orphanet:99969"} synonym: "pleomorphic liposarcoma" EXACT [DOID:5702, NCIT:C3705] synonym: "pleomorphic liposarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "pleomorphic liposarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "pleomorphic liposarcoma (morphologic abnormality)" EXACT [DOID:5702] synonym: "PLLS" RELATED ABBREVIATION [ONCOTREE:PLLS] synonym: "PLS" EXACT ABBREVIATION [Orphanet:99969] xref: DOID:5702 {source="MONDO:equivalentTo", source="EFO:0003083"} xref: EFO:0003083 {source="MONDO:equivalentTo"} xref: ICD10:C49.9 {source="ORDO:99969/ntbt", source="Orphanet:99969"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:8854/3 {source="NCIT:C3705"} xref: MONDO:0020562 xref: NCIT:C3705 {source="DOID:5702", source="MONDO:equivalentTo", source="EFO:0003083", source="MONDO:exact-label-match"} xref: NCIT:C3705 {source="DOID:5702", source="MONDO:equivalentTo", source="EFO:0003083", source="exact-label-match"} xref: ONCOTREE:PLLS {source="MONDO:equivalentTo"} xref: Orphanet:99969 {source="MONDO:equivalentTo"} xref: SCTID:404071006 {source="DOID:5702", source="MONDO:equivalentTo", source="EFO:0003083"} xref: UMLS:C0205825 {source="NCIT:C3705", source="DOID:5702", source="MONDO:equivalentTo", source="Orphanet:99969", source="Orphanet:99969/e"} xref: UMLS:C0205825 {source="NCIT:C3705", source="ORDO:99969/e", source="DOID:5702", source="MONDO:equivalentTo", source="Orphanet:99969"} is_a: EFO:0000569 {source="DOID:5702", source="EFO:0003083", source="NCIT:C3705", source="ONCOTREE:PLLS", source="Orphanet:99969"} ! liposarcoma property_value: closeMatch http://identifiers.org/snomedct/112683004 property_value: exactMatch DOID:5702 property_value: exactMatch DOID:5702 property_value: exactMatch http://identifiers.org/snomedct/404071006 property_value: exactMatch http://identifiers.org/snomedct/404071006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205825 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205825 property_value: exactMatch NCIT:C3705 property_value: exactMatch NCIT:C3705 property_value: exactMatch Orphanet:99969 [Term] id: EFO:0003084 name: round cell liposarcoma def: "A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma." [NCIT:C4252] synonym: "cellular myxoid liposarcoma" EXACT [DOID:5692, NCIT:C4252] synonym: "round cell liposarcoma" EXACT [NCIT:C4252] synonym: "round cell liposarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "round cell liposarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "round cell liposarcoma (morphologic abnormality)" EXACT [DOID:5692] xref: DOID:5692 {source="MONDO:equivalentTo", source="EFO:0003084"} xref: EFO:0003084 {source="MONDO:equivalentTo"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:8853/3 {source="NCIT:C4252"} xref: MONDO:0005238 xref: NCIT:C4252 {source="MONDO:equivalentTo", source="DOID:5692", source="EFO:0003084"} xref: SCTID:404070007 {source="MONDO:equivalentTo", source="DOID:5692", source="EFO:0003084"} xref: UMLS:C0334471 {source="NCIT:C4252", source="MONDO:equivalentTo", source="DOID:5692"} is_a: MONDO:0020561 ! myxoid/round cell liposarcoma property_value: closeMatch http://identifiers.org/snomedct/43296007 property_value: exactMatch DOID:5692 property_value: exactMatch DOID:5692 property_value: exactMatch http://identifiers.org/snomedct/404070007 property_value: exactMatch http://identifiers.org/snomedct/404070007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334471 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334471 property_value: exactMatch NCIT:C4252 property_value: exactMatch NCIT:C4252 [Term] id: EFO:0003085 name: dedifferentiated liposarcoma def: "Dedifferentiated liposarcoma (DDLS) is a high-grade subtype of liposarcoma (LS) that progresses from well-differentiated liposarcoma (WDLS), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS." [Orphanet:99970] subset: ordo_histopathological_subtype {source="Orphanet:99970"} synonym: "DDLS" EXACT ABBREVIATION [ONCOTREE:DDLS, Orphanet:99970] synonym: "Dedifferentiated liposarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "Dedifferentiated liposarcoma" EXACT [NCIT:C3704] synonym: "Dedifferentiated liposarcoma" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0080531 {source="MONDO:equivalentTo"} xref: EFO:0003085 {source="MONDO:equivalentTo"} xref: ICD10:C49.9 {source="ORDO:99970/ntbt", source="Orphanet:99970"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:8858/3 {source="NCIT:C3704"} xref: MONDO:0020563 xref: NCIT:C3704 {source="MONDO:equivalentTo", source="EFO:0003085", source="exact-label-match"} xref: NCIT:C3704 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:0003085"} xref: ONCOTREE:DDLS {source="MONDO:equivalentTo"} xref: Orphanet:99970 {source="MONDO:equivalentTo"} xref: SCTID:404072004 {source="MONDO:equivalentTo", source="EFO:0003085"} xref: UMLS:C0205824 {source="NCIT:C3704", source="Orphanet:99970/e", source="MONDO:equivalentTo", source="Orphanet:99970"} xref: UMLS:C0205824 {source="NCIT:C3704", source="MONDO:equivalentTo", source="ORDO:99970/e", source="Orphanet:99970"} is_a: EFO:0000569 {source="EFO:0003085", source="NCIT:C3704", source="ONCOTREE:DDLS", source="Orphanet:99970"} ! liposarcoma property_value: closeMatch http://identifiers.org/snomedct/67280001 property_value: exactMatch DOID:0080531 property_value: exactMatch DOID:0080531 property_value: exactMatch http://identifiers.org/snomedct/404072004 property_value: exactMatch http://identifiers.org/snomedct/404072004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205824 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205824 property_value: exactMatch NCIT:C3704 property_value: exactMatch NCIT:C3704 property_value: exactMatch Orphanet:99970 [Term] id: EFO:0003086 name: kidney disease def: "A disease affecting the kidneys" [] def: "A disease involving the kidney." [https://orcid.org/0000-0002-6601-2165] synonym: "disease of kidney" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of kidney" EXACT [] synonym: "disorder of kidney" EXACT [MONDO:patterns/location_top] synonym: "kidney disease" EXACT [MONDO:patterns/location] synonym: "kidney disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "kidney diseases" EXACT [] synonym: "Kidney Disorder" EXACT [] synonym: "kidney disorder" EXACT [NCIT:C3149] synonym: "kidney disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "nephropathy" EXACT [] synonym: "nephropathy" RELATED [DOID:557] synonym: "renal disease" EXACT [NCIT:C3149] synonym: "renal disorder" EXACT [NCIT:C3149] synonym: "renal system disease" EXACT [] xref: DOID:557 {source="MONDO:equivalentTo", source="EFO:0003086"} xref: ICD10:N01 xref: ICD10:N26 xref: ICD9:583.81 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10051051 xref: MESH:D007674 {source="DOID:557", source="MONDO:equivalentTo", source="EFO:0003086"} xref: MeSH:D007674 xref: MONDO:0005240 xref: NCIT:C3149 {source="DOID:557", source="MONDO:equivalentTo", source="EFO:0003086"} xref: NCIt:C3149 xref: NCIt:C34843 xref: SCTID:90708001 {source="DOID:557", source="MONDO:equivalentTo", source="EFO:0003086"} xref: SNOMEDCT:90708001 xref: UMLS:C0022658 {source="DOID:557", source="MONDO:equivalentTo"} is_a: EFO:0009690 {source="DOID:557", source="MESH:D007674", source="MONDO:Redundant", source="NCIT:C3149"} ! urinary system disease property_value: exactMatch DOID:557 property_value: exactMatch http://identifiers.org/mesh/D007674 property_value: exactMatch http://identifiers.org/snomedct/90708001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022658 property_value: exactMatch NCIT:C3149 property_value: gwas:trait "true" xsd:boolean created_by: Helen Parkinson [Term] id: EFO:0003087 name: obsolete_atrial myocardium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0002302 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002302 [Term] id: EFO:0003088 name: obsolete_ventricular myocardium xref: UBERON:0001083 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with UBERON_0001083" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001083 [Term] id: EFO:0003089 name: obsolete_spinocerebellar ataxia type 1 xref: OMIM:164400 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_98755' instead.\nNew Label : Spinocerebellar ataxia type 1" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_98755 [Term] id: EFO:0003090 name: obsolete_spinocerebellar ataxia type 7 xref: OMIM:164500 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_94147' instead.\nNew Label : Spinocerebellar ataxia type 7" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_94147 [Term] id: EFO:0003091 name: obsolete_spinocerebellar ataxia type 17 xref: OMIM:607136 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_98759' instead.\nNew Label : Spinocerebellar ataxia type 17" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_98759 [Term] id: EFO:0003092 name: obsolete_neurofibromatosis def: "An autosomal dominant hereditary neoplastic syndrome. Two distinct clinicopathological entities are recognized: neurofibromatosis type 1 and neurofibromatosis type 2. Neurofibromatosis type 1 is associated with the presence of cafe-au-lait cutaneous lesions, multiple neurofibromas, malignant peripheral nerve sheath tumors, optic nerve gliomas, and bone lesions. Neurofibromatosis type 2 is associated with the presence of schwannomas, meningiomas, and gliomas." [] synonym: "Acoustic neurofibromatosis" EXACT [] synonym: "central Neurofibromatosis" EXACT [] synonym: "Neurofibromatosis (morphologic abnormality)" EXACT [] synonym: "Neurofibromatosis 1" EXACT [] synonym: "Neurofibromatosis syndrome (disorder)" EXACT [] synonym: "neurofibromatosis type 1" EXACT [] synonym: "neurofibromatosis type 2" EXACT [] synonym: "neurofibromatosis type 4" EXACT [] synonym: "neurofibromatosis type IV" EXACT [] synonym: "peripheral Neurofibromatosis" EXACT [] synonym: "Recklinghausen's neurofibromatosis" EXACT [] synonym: "type IV neurofibromatosis of riccardi" EXACT [] synonym: "von Reklinghausen disease" EXACT [] xref: DOID:8712 xref: NCIt:C6727 xref: OMIM:162200 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_636' instead.\nNew Label : Neurofibromatosis 1" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_636 [Term] id: EFO:0003093 name: obsolete_adrenocortical carcinoma property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.98" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication\nUse http://www.ebi.ac.uk/efo/EFO_1000796\nLabel : adrenal cortex carcinoma" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_1000796 [Term] id: EFO:0003094 name: ganglioglioma def: "A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. (Adapted from WHO)" [NCIT:C3788] subset: gard_rare {source="GARD:0002430"} subset: ordo_disease {source="Orphanet:251949"} synonym: "adult ganglioglioma" EXACT [DOID:5078] synonym: "adult ganglioglioma" NARROW [DOID:5078] synonym: "childhood ganglioglioma" EXACT [DOID:5078] synonym: "childhood ganglioglioma" NARROW [DOID:5078] synonym: "CNS ganglioglioma" EXACT [DOID:5078] synonym: "ganglioglioma" EXACT [] {comment="preferred label from MONDO"} synonym: "ganglioglioma" EXACT [NCIT:C3788] synonym: "ganglioglioma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "mixed cell tumors containing both neural ganglionic cells and neural glial cell components" RELATED [GARD:0002430] synonym: "mixed cell tumours containing both neural ganglionic cells and neural glial cell components" RELATED OMO:0003005 [] xref: DOID:5078 {source="MONDO:equivalentTo"} xref: EFO:0003094 {source="MONDO:equivalentTo"} xref: GARD:0002430 {source="MONDO:equivalentTo"} xref: ICDO:9505/1 {source="NCIT:C3788"} xref: MedDRA:10017701 {source="Orphanet:251949", source="Orphanet:251949/e"} xref: MedDRA:10017701 {source="ORDO:251949/e", source="Orphanet:251949"} xref: MESH:D018303 {source="MONDO:equivalentTo", source="DOID:5078"} xref: MONDO:0016733 xref: NCIT:C3788 {source="MONDO:equivalentTo", source="DOID:5078"} xref: ONCOTREE:GNG {source="MONDO:equivalentTo"} xref: Orphanet:251949 {source="MONDO:equivalentTo"} xref: SCTID:87191000119100 {source="MONDO:equivalentTo", source="DOID:5078"} xref: UMLS:C0206716 {source="Orphanet:251949", source="MONDO:equivalentTo", source="Orphanet:251949/e", source="NCIT:C3788", source="DOID:5078"} xref: UMLS:C0206716 {source="ORDO:251949/e", source="Orphanet:251949", source="MONDO:equivalentTo", source="NCIT:C3788", source="DOID:5078"} is_a: MONDO:0016729 {source="NCIT:C3788", source="Orphanet:251949"} ! mixed neuronal-glial tumor relationship: has_characteristic MONDO:0024491 ! tumor grade 1, general grading system property_value: closeMatch http://identifiers.org/meddra/10017701 property_value: closeMatch http://identifiers.org/snomedct/89880005 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1332202 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1332969 property_value: closeMatch NCIT:C27362 property_value: closeMatch NCIT:C27363 property_value: exactMatch DOID:5078 property_value: exactMatch DOID:5078 property_value: exactMatch http://identifiers.org/meddra/10017701 property_value: exactMatch http://identifiers.org/mesh/D018303 property_value: exactMatch http://identifiers.org/mesh/D018303 property_value: exactMatch http://identifiers.org/snomedct/87191000119100 property_value: exactMatch http://identifiers.org/snomedct/87191000119100 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206716 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206716 property_value: exactMatch NCIT:C3788 property_value: exactMatch NCIT:C3788 property_value: exactMatch Orphanet:251949 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2430/ganglioglioma xsd:anyURI {source="GARD:0002430"} [Term] id: EFO:0003095 name: non-alcoholic fatty liver disease def: "A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use." [NCIT:C84444] subset: predisposition synonym: "fatty liver disease, nonalcoholic" EXACT [MONDO:0000031] synonym: "fatty liver disease, nonalcoholic, susceptibility to, 1" RELATED [MONDO:Lexical, OMIM:613282] synonym: "liver disease, alcoholic, susceptibility to, 1" RELATED [OMIM:613282] synonym: "NAFLD" EXACT ABBREVIATION [Orphanet:33271] synonym: "NAFLD - Nonalcoholic Fatty Liver Disease" EXACT [] synonym: "NAFLD - nonalcoholic fatty liver disease" RELATED [NCIT:C84444] synonym: "NAFLD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613282] synonym: "non-alcoholic fatty liver" EXACT [MONDO:0007026] synonym: "non-alcoholic fatty liver disease" EXACT [] {comment="preferred label from MONDO"} synonym: "non-alcoholic fatty liver disease" EXACT [DOID:0080208] synonym: "Nonalcoholic Fatty Liver Disease" EXACT [] synonym: "nonalcoholic fatty liver disease" RELATED [NCIT:C84444] xref: DOID:0080208 {source="MONDO:equivalentTo"} xref: DOID:0080546 {source="MONDO:equivalentTo"} xref: EFO:1001248 {source="MONDO:equivalentTo"} xref: ICD9:571.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10029530 {source="EFO:1001248"} xref: MESH:D065626 {source="MONDO:equivalentTo", source="EFO:0003095"} xref: MeSH:D065626 xref: MONDO:0013209 xref: NCIT:C84444 {source="MONDO:equivalentTo", source="EFO:0003095"} xref: NCIt:C84444 xref: OMIM:613282 xref: Orphanet:33271 {source="MONDO:equivalentObsolete", source="OMIM:613282"} xref: SCTID:197315008 {source="MONDO:equivalentTo", source="EFO:1001248"} is_a: MONDO:0004790 {source="DOID:0080208", source="MESH:D065626"} ! fatty liver disease property_value: closeMatch http://identifiers.org/meddra/10029530 property_value: exactMatch DOID:0080208 property_value: exactMatch DOID:0080546 property_value: exactMatch http://identifiers.org/mesh/D065626 property_value: exactMatch http://identifiers.org/snomedct/197315008 property_value: exactMatch NCIT:C84444 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003096 name: Pick disease def: "A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies." [NCIT:P378] synonym: "dementia in Pick's disease" EXACT [DOID:11870] synonym: "Dementia in Pick's disease (disorder)" EXACT [] synonym: "dementia with lobar atrophy and neuronal cytoplasmic inclusions" RELATED [OMIM:172700] synonym: "Frontotemporal degeneration" EXACT [] synonym: "frontotemporal lobar degeneration" EXACT [] synonym: "FTD" EXACT [] synonym: "FTLD" EXACT [] synonym: "LOBAR ATROPHY OF BRAIN" EXACT [] synonym: "lobar atrophy of brain" EXACT [DOID:11870, OMIM:172700] synonym: "lobar atrophy of the brain" RELATED [GARD:0007392] synonym: "Pick disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Pick disease" EXACT [DOID:11870] synonym: "PICK DISEASE OF BRAIN" EXACT [] synonym: "PICK disease of brain" EXACT [DOID:11870, OMIM:172700] synonym: "Pick disease of the brain" EXACT [] synonym: "Pick disease of the brain" RELATED [GARD:0007392] synonym: "Pick's disease" EXACT [] synonym: "Pick's disease" RELATED [DOID:11870] synonym: "Pick's disease (disorder)" EXACT [] synonym: "Picks disease" EXACT [] xref: DOID:11870 {source="MONDO:equivalentTo", source="EFO:0003096"} xref: ICD10CM:G31.01 {source="MONDO:equivalentTo", source="DOID:11870"} xref: ICD9:331.11 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0003096", source="DOID:11870"} xref: MESH:D020774 {source="MONDO:equivalentTo", source="EFO:0003096", source="DOID:11870"} xref: MeSH:D020774 xref: MONDO:0008243 xref: NCIT:C85008 {source="MONDO:equivalentTo", source="EFO:0003096", source="DOID:11870"} xref: NCIt:C85008 xref: OMIM:172700 {source="MONDO:equivalentTo", source="EFO:0003096", source="DOID:11870"} xref: SCTID:13092008 {source="MONDO:equivalentTo", source="EFO:0003096", source="DOID:11870"} xref: SNOMEDCT:13092008 xref: UMLS:C0236642 {source="NCIT:C85008", source="OMIM:172700", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:11870"} is_a: EFO:0005815 ! tauopathy is_a: MONDO:0017276 {source="MESH:D020774", source="Orphanet:282/btnt"} ! frontotemporal dementia is_a: MONDO:0044996 ! cerebral cortex disorder relationship: EFO:0000784 UBERON:0001870 ! has_disease_location frontal cortex relationship: EFO:0000784 UBERON:0001871 ! has_disease_location temporal lobe property_value: exactMatch DOID:11870 property_value: exactMatch http://identifiers.org/mesh/D020774 property_value: exactMatch http://identifiers.org/snomedct/13092008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0236642 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G31.01 property_value: exactMatch https://omim.org/entry/172700 property_value: exactMatch NCIT:C85008 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Gautier Koscielny" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003097 name: empyema def: "An accumulation of pus in a body cavity, usually the pleural space." [NCIT:C34572] def: "An accumulation of pus, usually in a body cavity" [] synonym: "collection of pus" RELATED [] synonym: "empyema" EXACT [] {comment="preferred label from MONDO"} xref: ICD9:510 {source="EFO:0003097"} xref: MedDRA:10014568 xref: MESH:D004653 {source="MONDO:equivalentTo", source="EFO:0003097"} xref: MeSH:D004653 xref: MONDO:0005242 xref: NCIT:C34572 {source="MONDO:equivalentTo", source="EFO:0003097"} xref: NCIt:C34572 xref: SCTID:312682007 {source="MONDO:equivalentTo", source="EFO:0003097"} xref: SNOMEDCT:312682007 xref: SNOMEDCT:66696003 is_a: EFO:0000771 {source="EFO:0003097", source="NCIT:C34572"} ! bacterial disease property_value: exactMatch http://identifiers.org/mesh/D004653 property_value: exactMatch http://identifiers.org/snomedct/312682007 property_value: exactMatch NCIT:C34572 property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003098 name: obsolete_meningioma def: "A tumor of meningothelial cells that are manifested in the central nervous system and arise from the arachnoid \"cap\" cells of the arachnoid villi in the meninges." [] synonym: "meningioma NOS" EXACT [] synonym: "meningioma NOS (morphologic abnormality)" EXACT [] synonym: "meningioma, benign, no ICD-O subtype (morphologic abnormality)" EXACT [] synonym: "meningiomas (morphologic abnormality)" EXACT [] xref: DOID:3565 xref: MeSH:D008579 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_2495' instead.\nNew Label : Meningioma" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_2495 [Term] id: EFO:0003099 name: Cushing syndrome def: "Cushing syndrome is a endocrine syndrome caused by overactivity of the adrenal cortex caused by a tumor of the pituitary gland." [] def: "Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin." [Orphanet:553] comment: Editor mote: DOID merged this into primary hyperaldosteronism but we believe this to be wrong. Update: fixed https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/525; consider adding subclass for inherited form subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:553"} synonym: "adrenal hyperfunction resulting from pituitary ACTH excess" RELATED [GARD:0006224] synonym: "cortisol Excess" EXACT [NCIT:C2969] synonym: "Cushing syndrome" EXACT [DOID:12252] synonym: "Cushing syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Cushing's syndrome" EXACT [Orphanet:553] synonym: "Cushing's syndrome NOS" EXACT [] synonym: "Cushing's syndrome NOS (disorder)" EXACT [] synonym: "ectopic adrenocorticotropic hormone syndrome" RELATED [GARD:0006224] synonym: "hyperadrenocorticism" EXACT [Orphanet:553] synonym: "hypercorticism" EXACT [] synonym: "hypercortisolism" BROAD [Orphanet:553] synonym: "nodular primary adrenocortical dysplasia" RELATED [GARD:0006224] synonym: "pituitary basophilism" EXACT [DOID:12252] synonym: "Suprarenogenic syndrome" EXACT [] synonym: "suprarenogenic syndrome" EXACT [DOID:12252] xref: DOID:12252 xref: ICD10:E24 xref: ICD10CM:E24 {source="MONDO:equivalentTo", source="DOID:12252"} xref: ICD9:255.0 {source="EFO:0003099", source="DOID:12252"} xref: MedDRA:10011652 {source="Orphanet:553/e", source="Orphanet:553"} xref: MedDRA:10020562 {source="Orphanet:553/e", source="Orphanet:553"} xref: MedDRA:10020564 {source="Orphanet:553/e", source="Orphanet:553"} xref: MedDRA:10020610 {source="Orphanet:553/e", source="Orphanet:553"} xref: MESH:D000308 {source="MONDO:relatedTo", source="Orphanet:553/e", source="Orphanet:553"} xref: MESH:D003480 {source="EFO:0003099", source="Orphanet:553/e", source="MONDO:equivalentTo", source="DOID:12252", source="Orphanet:553"} xref: MeSH:D003480 xref: MONDO:0018912 xref: NCIT:C2969 {source="EFO:0003099", source="MONDO:equivalentTo", source="DOID:12252"} xref: NCIt:C2969 xref: OMIM:219090 xref: Orphanet:553 {source="MONDO:equivalentTo"} xref: UMLS:C0001622 {source="MONDO:relatedTo", source="Orphanet:553/e", source="Orphanet:553"} xref: UMLS:C0010481 {source="NCIT:C2969", source="Orphanet:553/e", source="MONDO:equivalentTo", source="DOID:12252", source="Orphanet:553"} is_a: EFO:0005539 {source="Orphanet:553"} ! adrenal gland disease is_a: MONDO:0002254 {source="NCIT:C2969/inferred"} ! syndromic disease property_value: closeMatch http://identifiers.org/meddra/10011652 property_value: closeMatch http://identifiers.org/meddra/10020562 property_value: closeMatch http://identifiers.org/meddra/10020564 property_value: closeMatch http://identifiers.org/meddra/10020610 property_value: exactMatch http://identifiers.org/mesh/D003480 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010481 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E24 property_value: exactMatch NCIT:C2969 property_value: exactMatch Orphanet:553 property_value: excluded_subClassOf MONDO:0006640 {source="DOID:12252", source="MESH:D003480"} property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003100 name: peripheral neuropathy def: "A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs." [NCIT:C119734] comment: Editor note: NCIT draws a distinction between neuropathy and peripheral neuropathy see https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/20 synonym: "neuropathy" EXACT [MONDO:0005337, NCIT:C4731] synonym: "peripheral nerve disorder" EXACT [NCIT:C119734] synonym: "peripheral neuropathy" EXACT [DOID:870, https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/20] synonym: "peripheral neuropathy" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0060053 xref: DOID:870 {source="EFO:0004149", source="MONDO:equivalentTo"} xref: EFO:0004149 {source="MONDO:equivalentTo"} xref: MedDRA:10034606 {source="EFO:0003100"} xref: MedDRA:10080342 xref: MONDO:0005244 xref: NCIT:C119734 {source="EFO:0003100", source="MONDO:equivalentTo"} xref: NCIt:C119734 xref: NCIT:C4731 {source="EFO:0004149", source="MONDO:equivalentTo", source="DOID:870"} xref: SCTID:386033004 {source="EFO:0004149", source="MONDO:equivalentTo", source="DOID:870"} xref: UMLS:C0442874 {source="MONDO:equivalentTo", source="NCIT:C4731", source="DOID:870"} is_a: EFO:0009387 {source="DOID:870", source="NCIT:C119734", source="NCIT:C119734/inferred", source="NCIT:C4731"} ! peripheral nervous system disease is_a: EFO:1001902 {source="ISBN-13:978-1-259-64403-0"} ! neuromuscular disease property_value: closeMatch http://identifiers.org/meddra/10034606 property_value: exactMatch DOID:870 property_value: exactMatch http://identifiers.org/snomedct/386033004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0442874 property_value: exactMatch NCIT:C119734 property_value: exactMatch NCIT:C4731 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003101 name: testicular seminoma def: "A malignant germ cell tumor arising from the testis. It is believed that it is derived from the sexually undifferentiated embryonic gonad. Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma." [NCIT:C7328] subset: gard_rare {source="GARD:0004792"} subset: ordo_disease {source="Orphanet:842"} synonym: "seminoma of testis" EXACT [DOID:5842, NCIT:C7328, Orphanet:842] synonym: "seminoma of the testis" EXACT [NCIT:C7328] synonym: "seminoma testis" EXACT [DOID:5842] synonym: "seminomatous germ cell tumor of testis" EXACT [Orphanet:842] synonym: "seminomatous germ cell tumour of testis" EXACT OMO:0003005 [] synonym: "testicular seminoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "testicular seminoma" EXACT [] {comment="preferred label from MONDO"} synonym: "testicular seminoma" EXACT [MONDO:ambiguous, NCIT:C7328, Orphanet:842] synonym: "testicular seminoma (disease)" EXACT [MONDO:0005245] synonym: "testicular seminoma Pure" EXACT [DOID:5842, NCIT:C7328] synonym: "testicular seminomatous germ cell tumor" EXACT [MONDO:0019400] synonym: "testicular seminomatous germ cell tumour" EXACT OMO:0003005 [] synonym: "testis seminoma" EXACT [MONDO:patterns/location] xref: DOID:5842 {source="MONDO:equivalentTo"} xref: EFO:0003101 {source="MONDO:equivalentTo"} xref: GARD:0004792 {source="MONDO:equivalentTo"} xref: HP:0100617 {source="MONDO:otherHierarchy"} xref: ICD10:C62.9 {source="Orphanet:842", source="ORDO:842/ntbt"} xref: ICD9:186.9 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:186.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MONDO:0003669 xref: NCIT:C7328 {source="EFO:0003101", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C7328 {source="EFO:0003101", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: Orphanet:842 {source="MONDO:equivalentTo"} xref: SCTID:255107005 {source="EFO:0003101", source="DOID:5842", source="MONDO:equivalentTo"} is_a: MONDO:0002874 {source="NCIT:C7328"} ! testicular pure germ cell tumor is_a: MONDO:0003001 {source="DOID:5842", source="MONDO:Redundant", source="NCIT:C7328"} ! seminoma is_a: MONDO:0003510 {source="DOID:5842", source="MONDO:Redundant", source="NCIT:C7328"} ! malignant testicular germ cell tumor relationship: EFO:0000784 UBERON:0000473 ! has_disease_location testis property_value: closeMatch http://identifiers.org/snomedct/154532006 property_value: closeMatch http://identifiers.org/snomedct/188228003 property_value: closeMatch http://identifiers.org/snomedct/189840000 property_value: closeMatch http://identifiers.org/snomedct/189841001 property_value: closeMatch http://identifiers.org/snomedct/269603004 property_value: closeMatch http://identifiers.org/snomedct/36741007 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0036631 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2242808 property_value: exactMatch DOID:5842 property_value: exactMatch DOID:5842 property_value: exactMatch http://identifiers.org/snomedct/255107005 property_value: exactMatch http://identifiers.org/snomedct/255107005 property_value: exactMatch NCIT:C7328 property_value: exactMatch NCIT:C7328 property_value: exactMatch Orphanet:842 property_value: exactMatch Orphanet:842 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4792/testicular-seminoma xsd:anyURI {source="GARD:0004792"} [Term] id: EFO:0003102 name: osteomyelitis def: "A bone inflammation disease that results_from infection located_in bone and located_in bone marrow." [] def: "An acute or chronic inflammation of the bone and its structures due to infection with pyogenic bacteria." [NCIT:P378] synonym: "acute osteomyelitis" EXACT [] synonym: "acute osteomyelitis involving ankle and foot" EXACT [] synonym: "acute osteomyelitis involving hand" EXACT [] synonym: "acute osteomyelitis involving lower leg" EXACT [] synonym: "acute osteomyelitis involving multiple sites" EXACT [] synonym: "acute osteomyelitis involving pelvic region and thigh" EXACT [] synonym: "acute osteomyelitis involving shoulder region" EXACT [] synonym: "acute osteomyelitis involving upper arm" EXACT [] synonym: "acute osteomyelitis of ankle and/or foot (disorder)" EXACT [] synonym: "acute osteomyelitis of the ankle and foot" EXACT [] synonym: "acute osteomyelitis of the ankle and foot (disorder)" EXACT [] synonym: "bone infection NOS, of ankle and foot (disorder)" EXACT [] synonym: "bone infection NOS, of multiple sites (disorder)" EXACT [] synonym: "bone infection NOS, of the forearm (disorder)" EXACT [] synonym: "bone infection NOS, of the hand (disorder)" EXACT [] synonym: "bone infection NOS, of the lower leg (disorder)" EXACT [] synonym: "bone infection NOS, of the shoulder region (disorder)" EXACT [] synonym: "bone infection NOS, of the upper arm (disorder)" EXACT [] synonym: "chronic osteomyelitis" EXACT [] synonym: "chronic osteomyelitis involving ankle and foot" EXACT [] synonym: "chronic osteomyelitis involving hand" EXACT [] synonym: "chronic osteomyelitis involving lower leg" EXACT [] synonym: "chronic osteomyelitis involving multiple sites" EXACT [] synonym: "chronic osteomyelitis involving pelvic region and thigh" EXACT [] synonym: "chronic osteomyelitis involving shoulder region" EXACT [] synonym: "chronic osteomyelitis involving upper arm" EXACT [] synonym: "chronic osteomyelitis of ankle and/or foot (disorder)" EXACT [] synonym: "chronic osteomyelitis of the ankle and foot" EXACT [] synonym: "chronic osteomyelitis of the ankle and foot (disorder)" EXACT [] synonym: "osteomyelitis" EXACT [MONDO:ambiguous] synonym: "osteomyelitis" EXACT [] {comment="preferred label from MONDO"} synonym: "osteomyelitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "osteomyelitis of ankle and foot" EXACT [] synonym: "Osteomyelitis of ankle and/or foot (disorder)" EXACT [] synonym: "osteomyelitis of forearm" EXACT [] synonym: "Osteomyelitis of forearm (disorder)" EXACT [] synonym: "osteomyelitis of hand" EXACT [] synonym: "Osteomyelitis of hand (disorder)" EXACT [] synonym: "osteomyelitis of lower leg" EXACT [] synonym: "Osteomyelitis of lower leg (disorder)" EXACT [] synonym: "osteomyelitis of multiple sites" EXACT [] synonym: "Osteomyelitis of multiple sites (disorder)" EXACT [] synonym: "osteomyelitis of shoulder region" EXACT [] synonym: "Osteomyelitis of shoulder region (disorder)" EXACT [] synonym: "osteomyelitis of upper arm" EXACT [] synonym: "Osteomyelitis of upper arm (disorder)" EXACT [] synonym: "Unspecified infection of bone of shoulder region" EXACT [] synonym: "Unspecified infection of bone, ankle and foot" EXACT [] synonym: "Unspecified infection of bone, forearm" EXACT [] synonym: "Unspecified infection of bone, hand" EXACT [] synonym: "Unspecified infection of bone, lower leg" EXACT [] synonym: "Unspecified infection of bone, upper arm" EXACT [] synonym: "Unspecified osteomyelitis involving multiple sites" EXACT [] synonym: "Unspecified osteomyelitis of multiple sites" EXACT [] synonym: "Unspecified osteomyelitis of multiple sites (disorder)" EXACT [] synonym: "Unspecified osteomyelitis of the ankle and foot" EXACT [] synonym: "Unspecified osteomyelitis of the ankle and foot (disorder)" EXACT [] synonym: "Unspecified osteomyelitis of the forearm (disorder)" EXACT [] synonym: "Unspecified osteomyelitis of the hand" EXACT [] synonym: "Unspecified osteomyelitis of the hand (disorder)" EXACT [] synonym: "Unspecified osteomyelitis of the lower leg (disorder)" EXACT [] synonym: "Unspecified osteomyelitis of the shoulder region" EXACT [] synonym: "Unspecified osteomyelitis of the shoulder region (disorder)" EXACT [] synonym: "Unspecified osteomyelitis of the upper arm (disorder)" EXACT [] xref: DOID:1019 {source="EFO:0003102", source="MONDO:equivalentTo"} xref: HP:0002754 {source="MONDO:otherHierarchy"} xref: ICD10:M86 xref: ICD9:730.0 {source="EFO:0003102"} xref: ICD9:730.01 {source="DOID:1019"} xref: ICD9:730.1 {source="EFO:0003102", source="DOID:1019"} xref: ICD9:730.10 {source="DOID:1019"} xref: ICD9:730.11 {source="DOID:1019"} xref: ICD9:730.20 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:730.28 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:730.92 {source="EFO:0003102"} xref: ICD9:730.93 {source="EFO:0003102"} xref: ICD9:730.94 {source="EFO:0003102"} xref: ICD9:730.96 {source="EFO:0003102"} xref: ICD9:730.97 {source="EFO:0003102"} xref: MedDRA:10031252 xref: MedDRA:10031263 xref: MESH:D010019 {source="EFO:0003102", source="MONDO:equivalentTo"} xref: MeSH:D010019 xref: MONDO:0005246 xref: NCIT:C27577 {source="EFO:0003102", source="MONDO:equivalentTo"} xref: NCIt:C27577 xref: SCTID:60168000 {source="EFO:0003102", source="MONDO:equivalentTo"} xref: SNOMEDCT:60168000 xref: UMLS:C0029443 {source="MONDO:equivalentTo", source="NCIT:C27577"} is_a: EFO:0000771 ! bacterial disease is_a: MONDO:0002614 {source="DOID:1019"} ! bone inflammation disease is_a: MONDO:0003225 ! bone marrow disorder relationship: EFO:0000784 UBERON:0001474 ! has_disease_location bone element relationship: EFO:0000784 UBERON:0002371 ! has_disease_location bone marrow property_value: exactMatch DOID:1019 property_value: exactMatch http://identifiers.org/mesh/D010019 property_value: exactMatch http://identifiers.org/snomedct/60168000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029443 property_value: exactMatch NCIT:C27577 property_value: excluded_subClassOf MONDO:0005113 {source="EFO:0003102"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: IAO:0000589 "osteomyelitis (disease)" xsd:string [Term] id: EFO:0003103 name: urinary tract infection def: "A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine." [] synonym: "INFECTION, URINARY TRACT" EXACT [] synonym: "TRACT, INFECTION OF URINARY" EXACT [] synonym: "urinary tract infection" EXACT [] {comment="preferred label from MONDO"} synonym: "urinary tract infection (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0080784 {source="MONDO:equivalentTo"} xref: ICD10:O23 xref: MedDRA:10046571 xref: MedDRA:10046576 xref: MESH:D014552 {source="MONDO:equivalentTo"} xref: MeSH:D014552 xref: MONDO:0100338 xref: NCIt:C50791 xref: SNOMEDCT:68566005 is_a: EFO:0000771 ! bacterial disease is_a: EFO:0009690 ! urinary system disease property_value: exactMatch DOID:0080784 property_value: exactMatch http://identifiers.org/mesh/D014552 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: IAO:0000589 "urinary tract infection (disease)" xsd:string [Term] id: EFO:0003104 name: adrenocortical adenoma alt_id: MONDO:0005248 def: "A benign neoplasm that can arise from any of the adrenal cortical layers. It can be associated with the overproduction of glucocorticoids (Cushing's syndrome), androgenic or estrogenic steroids (adrenogenital syndrome), or mineralocorticoids (Conn's syndrome). (Sternberg Diagnostic Surgical Pathology, 3rd ed.)" [NCIT:C9003] subset: gard_rare synonym: "adenoma of adrenal cortex" EXACT [NCIT:C9003] synonym: "adenoma of adrenal gland" EXACT [NCIT:C9003] synonym: "adenoma of the adrenal cortex" EXACT [NCIT:C9003] synonym: "adenoma of the adrenal gland" EXACT [DOID:656, NCIT:C3906, NCIT:C9003] synonym: "adenoma, adrenocortical, benign" EXACT [NCIT:C9003] synonym: "adrenal adenoma" EXACT [NCIT:C9003] synonym: "adrenal cortex adenoma" EXACT [MONDO:patterns/location, NCIT:C9003] synonym: "adrenal cortex adenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "adrenal cortex adenoma" EXACT [] {comment="preferred label from MONDO"} synonym: "adrenal cortical adenoma" EXACT [NCIT:C9003] synonym: "adrenal gland adenoma" EXACT [NCIT:C9003] synonym: "adrenal incidentaloma" RELATED [GARD:0005745] synonym: "adrenocortical adenoma" EXACT [GARD:0005745, NCIT:C9003] synonym: "benign adenoma of adrenal gland" EXACT [NCIT:C9003] synonym: "benign adenoma of the adrenal gland" EXACT [NCIT:C9003] synonym: "benign adrenal adenoma" EXACT [NCIT:C9003] synonym: "benign adrenal gland adenoma" EXACT [NCIT:C9003] synonym: "cortical cell adenoma" EXACT [NCIT:C9003] xref: DOID:0050891 {source="EFO:0003104", source="MONDO:equivalentTo"} xref: DOID:656 {source="MONDO:equivalentTo"} xref: EFO:0003104 {source="MONDO:equivalentTo"} xref: GARD:0005745 {source="MONDO:equivalentTo"} xref: HP:0008196 {source="EFO:0003104", source="MONDO:otherHierarchy", source="MONDO:obsolete"} xref: HP:0008256 {source="MONDO:otherHierarchy"} xref: ICDO:8370/0 {source="NCIT:C9003"} xref: MESH:D018246 {source="EFO:0003104", source="MONDO:equivalentTo"} xref: MONDO:0003924 xref: NCIT:C9003 {source="EFO:0003104", source="MONDO:equivalentTo"} xref: ONCOTREE:ACA {source="MONDO:equivalentTo"} xref: Orphanet:463 {source="MONDO:equivalentTo"} xref: Orphanet:463 {source="MONDO:relatedTo"} xref: Orphanet:99888 {source="MONDO:equivalentObsolete"} xref: SCTID:302826002 {source="EFO:0003104", source="MONDO:equivalentTo"} xref: SCTID:302826002 {source="MONDO:subClassOf", source="EFO:0003104", source="MONDO:equivalentTo"} xref: UMLS:C0206667 {source="NCIT:C9003", source="MONDO:equivalentTo"} is_a: EFO:0000232 {source="EFO:0003104", source="MONDO:Redundant", source="NCIT:C9003"} ! adenoma is_a: MONDO:0021511 {source="MONDO:Redundant", source="NCIT:C9003/inferred"} ! benign neoplasm of adrenal gland is_a: MONDO:0036591 ! adrenal cortex neoplasm is_a: MONDO:0036976 ! benign epithelial neoplasm relationship: EFO:0000784 UBERON:0001235 ! has_disease_location adrenal cortex property_value: exactMatch DOID:0050891 property_value: exactMatch DOID:0050891 property_value: exactMatch DOID:656 property_value: exactMatch DOID:656 property_value: exactMatch http://identifiers.org/mesh/D018246 property_value: exactMatch http://identifiers.org/mesh/D018246 property_value: exactMatch http://identifiers.org/snomedct/302826002 property_value: exactMatch http://identifiers.org/snomedct/302826002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206667 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206667 property_value: exactMatch NCIT:C9003 property_value: exactMatch NCIT:C9003 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/adenoma.yaml property_value: relatedMatch Orphanet:463 [Term] id: EFO:0003105 name: spina bifida def: "A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae." [NCIT:C101214] synonym: "neural tube defects, susceptibility to" RELATED [MONDO:Lexical, OMIM:182940] synonym: "NTD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:182940] synonym: "rachischisis" EXACT [NCIT:C101214] synonym: "spina bifida" EXACT [] {comment="preferred label from MONDO"} synonym: "spina bifida" EXACT [MONDO:ambiguous, OMIM:182940] synonym: "spina bifida (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "spinal meningocele" EXACT [NCIT:C101214] synonym: "spinal myelocele" EXACT [NCIT:C101214] synonym: "spinal myelomeningocele" EXACT [NCIT:C101214] xref: DOID:0080016 {source="MONDO:equivalentTo", source="EFO:0003105"} xref: HP:0002414 {source="MONDO:otherHierarchy", source="EFO:0003105"} xref: ICD10:Q05 xref: ICD9:741 {source="EFO:0003105"} xref: MedDRA:10041524 xref: MedDRA:10041532 xref: MedDRA:10041533 xref: MedDRA:10041534 xref: MedDRA:10041535 xref: MESH:D016135 {source="MONDO:equivalentTo"} xref: MONDO:0008449 xref: NCIT:C101214 {source="MONDO:equivalentTo", source="EFO:0003105"} xref: NCIt:C101214 xref: OMIM:182940 xref: SCTID:67531005 {source="MONDO:equivalentTo", source="EFO:0003105"} xref: SNOMEDCT:67531005 is_a: EFO:0000508 ! genetic disorder is_a: EFO:0009488 ! spinal cord disease is_a: MONDO:0002320 {source="NCIT:C101214"} ! congenital nervous system disorder is_a: MONDO:0017059 {source="Orphanet:823"} ! neural tube closure defect relationship: disease_has_feature MONDO:0001147 ! meningocele relationship: EFO:0000784 UBERON:0002240 ! has_disease_location spinal cord property_value: exactMatch DOID:0080016 property_value: exactMatch http://identifiers.org/mesh/D016135 property_value: exactMatch http://identifiers.org/snomedct/67531005 property_value: exactMatch NCIT:C101214 property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: IAO:0000589 "spina bifida (disease)" xsd:string [Term] id: EFO:0003106 name: pneumonia def: "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from infection with bacteria, viruses, fungi or parasites. It is accompanied by fever, chills, cough, and difficulty in breathing." [] def: "An acute, acute and chronic, or chronic inflammation focally or diffusely affecting the lung parenchyma, caused by an infection in one or both of the lungs (by bacteria, viruses, fungi, or mycoplasma.). Symptoms include cough, shortness of breath, fevers, chills, chest pain, headache, sweating, and weakness." [NCIT:P378] synonym: "acute pneumonia" EXACT [] synonym: "acute pneumonia" NARROW [DOID:552] synonym: "chest infection due to pneumonia" EXACT [] synonym: "pneumonia" EXACT [] {comment="preferred label from MONDO"} synonym: "Pneumonia (disorder)" EXACT [] synonym: "Pneumonia (disorder) [Ambiguous]" EXACT [] synonym: "Pneumonia due to other specified organism" EXACT [] synonym: "Pneumonia due to other specified organisms" EXACT [] synonym: "Pneumonia due to other specified organisms (disorder)" EXACT [] synonym: "Pneumonia NOS" EXACT [] synonym: "Pneumonia NOS (disorder)" EXACT [] synonym: "pneumonia with infectious disease" EXACT [] synonym: "Pneumonitis" EXACT [] synonym: "Pneumonitis (disorder)" EXACT [] xref: DOID:552 {source="EFO:0003106", source="MONDO:equivalentTo"} xref: ICD10:J18 xref: ICD10CM:J15 {source="MONDO:relatedTo"} xref: ICD10CM:J18.9 {source="MONDO:equivalentTo"} xref: ICD9:483 {source="EFO:0003106"} xref: ICD9:483.8 {source="EFO:0003106"} xref: ICD9:484.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:486 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10035664 xref: MedDRA:10035739 xref: MESH:D011014 {source="EFO:0003106", source="MONDO:equivalentTo", source="DOID:552"} xref: MeSH:D011014 xref: MONDO:0005249 xref: NCIT:C3333 {source="EFO:0003106", source="MONDO:equivalentTo", source="DOID:552"} xref: NCIt:C3333 xref: SCTID:233604007 {source="EFO:0003106", source="MONDO:equivalentTo", source="DOID:552"} xref: SNOMEDCT:233604007 xref: UMLS:C0032285 {source="MONDO:equivalentTo", source="NCIT:C3333", source="DOID:552"} is_a: EFO:1001991 {source="https://github.com/monarch-initiative/mondo/issues/1439", source="https://www.mayoclinic.org/diseases-conditions/pneumonitis/symptoms-causes/syc-20352623"} ! pneumonitis is_a: MONDO:0024355 ! respiratory tract infectious disorder relationship: EFO:0000784 UBERON:0002048 ! has_disease_location lung property_value: exactMatch DOID:552 property_value: exactMatch http://identifiers.org/mesh/D011014 property_value: exactMatch http://identifiers.org/snomedct/233604007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032285 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/J18.9 property_value: exactMatch NCIT:C3333 property_value: excluded_subClassOf MONDO:0005275 {source="DOID:552", source="MESH:D011014", source="MONDO:Redundant", source="NCIT:C3333/inferred"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3790 xsd:anyURI property_value: relatedMatch http://purl.bioontology.org/ontology/ICD10CM/J15 [Term] id: EFO:0003107 name: obsolete_spinal muscular atrophy with respiratory distress synonym: "SMARD 1" EXACT [] synonym: "spinal muscular atrophy with respiratory distress type 1" EXACT [] xref: OMIM:604320 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_98920' instead.\nNew Label : Spinal muscular atrophy with respiratory distress" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_98920 [Term] id: EFO:0003108 name: essential tremor def: "A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms." [] def: "A relatively common disorder characterized by a fairly specific pattern of tremors which are most prominent in the upper extremities and neck, inducing titubations of the head. The tremor is usually mild, but when severe may be disabling. An autosomal dominant pattern of inheritance may occur in some families (i.e., familial tremor). (Mov Disord 1988;13(1):5-10)" [MESH:D020329] synonym: "benign essential tremor" EXACT [DOID:4990] synonym: "benign essential tremor (disorder) [Ambiguous]" EXACT [] synonym: "essential hereditary tremor" NARROW [DOID:4990] synonym: "essential tremor" EXACT [] {comment="preferred label from MONDO"} synonym: "Essential tremor (finding)" EXACT [] synonym: "shaky hand syndrome" EXACT [DOID:4990] synonym: "tremor, hereditary essential" NARROW [OMIMPS:190300] xref: DOID:4990 {source="MONDO:equivalentTo"} xref: ICD10CM:G25.0 {source="MONDO:equivalentTo", source="DOID:4990"} xref: ICD9:333.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10015496 xref: MESH:D020329 {source="MONDO:equivalentTo", source="DOID:4990"} xref: MeSH:D020329 xref: MONDO:0003233 xref: OMIM:190300 xref: OMIM:614782 xref: OMIM:616736 xref: OMIMPS:190300 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:862 {source="MONDO:equivalentObsolete", source="DOID:4990"} xref: SCTID:609558009 {source="MONDO:equivalentTo", source="DOID:4990"} xref: SNOMEDCT:609558009 xref: UMLS:C0270736 {source="MONDO:equivalentTo", source="DOID:4990"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0004280 {source="DOID:4990", source="MESH:D020329"} ! movement disorder is_a: HP:0000707 ! Abnormality of the nervous system property_value: exactMatch DOID:4990 property_value: exactMatch http://identifiers.org/mesh/D020329 property_value: exactMatch http://identifiers.org/snomedct/609558009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270736 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G25.0 property_value: exactMatch https://omim.org/phenotypicSeries/PS190300 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003109 name: obsolete_alopecia xref: DOID:987 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_79364' instead.\nNew Label : Alopecia" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_79364 [Term] id: EFO:0003110 name: villitis def: "Inflammatory process that involves the chorionic villi (villitis) of the placenta." [EFO:0003110] synonym: "Inflammation of chorionic villi" EXACT [] synonym: "placental villitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Villitis (disorder)" EXACT [] synonym: "Villositis" EXACT [] xref: MONDO:0005250 xref: SCTID:388604008 {source="EFO:0003110", source="MONDO:equivalentTo"} xref: SNOMEDCT:388604008 xref: UMLS:C1270169 {source="MONDO:equivalentTo"} is_a: EFO:0009903 ! inflammatory disease is_a: EFO:0009950 ! disease of extraembryonic membrane property_value: exactMatch http://identifiers.org/snomedct/388604008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1270169 property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003111 name: obsolete_neuronal ceroid lipofuscinosis def: "A group of mostly autosomal recessive inherited neurodegenerative disorders characterized by accumulation of lipofuscin in the neuronal cells and in other tissues including liver, spleen, kidneys, and myocardium. Signs and symptoms include motor disturbances and cognitive decline." [] xref: NCIt:C61257 xref: OMIM:204300 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_216' instead.\nNew Label : Neuronal ceroid lipofuscinosis" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_216 [Term] id: EFO:0003112 name: obsolete_late infantile neuronal ceroid lipofuscinosis def: "Infantile neuronal ceroid lipofuscinosis in which the signs and symptoms appear later in life." [] xref: NCIt:C85864 xref: OMIM:204500 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_168491' instead.\nNew Label : Late infantile neuronal ceroid lipofuscinosis" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_168491 [Term] id: EFO:0003113 name: obsolete_polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy synonym: "Nasu-Hakola disease" EXACT [] synonym: "NHD" EXACT [] synonym: "PLOSL" EXACT [] synonym: "Presenile dementia with bone cyst" EXACT [] xref: OMIM:221770 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_2770' instead.\nNew Label : Nasu-Hakola disease" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_2770 [Term] id: EFO:0003114 name: obsolete_pauciarticular juvenile rheumatoid arthritis property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.106" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use EFO_1002019 'oligoarticular juvenile idiopathic arthritis' instead." xsd:string property_value: IAO:0000117 "Paola Roncaglia" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true [Term] id: EFO:0003115 name: EBC-1 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000708 ! squamous cell lung carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0003116 name: NCI-H125 synonym: "H125" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000233 ! adenosquamous lung carcinoma [Term] id: EFO:0003117 name: NCI-H1334 synonym: "H1334" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0003060 ! non-small cell lung carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0003118 name: NCI-H157 synonym: "H157" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000708 ! squamous cell lung carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0003119 name: NCI-H1648 synonym: "H1648" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0003120 name: NCI-H2279 synonym: "H2279" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0003121 name: NCI-H2882 synonym: "H2882" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0001071 ! lung carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0003122 name: NCI-H2287 synonym: "H2287" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0001071 ! lung carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0003123 name: NCI-H3255 synonym: "H3255" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0003124 name: NCI-H520 synonym: "H-520" EXACT [] synonym: "H520" EXACT [] synonym: "NCI-HUT-520" EXACT [] xref: BTO:0003014 xref: CLO:0008093 xref: RRID:CVCL_1566 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000708 ! squamous cell lung carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0003125 name: NCI-H820 synonym: "H820" EXACT [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0003126 name: HCC1171 synonym: "HCC-1171" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0001000 EFO:0003060 ! derives_from non-small cell lung carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0003127 name: HCC1159 synonym: "HCC-1159" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000708 ! squamous cell lung carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0003128 name: HCC1359 synonym: "HCC-1359" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0003060 ! non-small cell lung carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0003129 name: HCC15 synonym: "HCC-15" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000708 ! squamous cell lung carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0003130 name: HCC193 synonym: "HCC-193" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0003131 name: HCC366 synonym: "HCC-366" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000233 ! adenosquamous lung carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0003132 name: HCC4006 synonym: "HCC-4006" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0003133 name: HCC44 synonym: "HCC-44" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0003134 name: HCC461 synonym: "HCC-461" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0003135 name: HCC515 synonym: "HCC-515" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0003136 name: HCC78 synonym: "HCC-78" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma [Term] id: EFO:0003137 name: HCC827 synonym: "HCC-827" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma [Term] id: EFO:0003138 name: HCC95 synonym: "HCC-95" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0003139 name: HCjE is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0003140 name: LC2/AD is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0003141 name: LK-2 is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0003142 name: Lu130 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000702 ! small cell lung carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0003143 name: CLIP-seq def: "CLIP-Seq also called HITS-CLIP is a method used for finding which RNA species interact with a particular RNA-binding protein (or an RNA). It employs crosslinking between RNA and the protein, followed by immunoprecipitation with antibodies for the protein." [] synonym: "HITS-CLIP" EXACT [] is_a: EFO:0001457 ! RNA assay is_a: EFO:0005032 ! IP-seq relationship: RO:0000057 EFO:0002699 ! has_participant high throughput sequencer property_value: IAO:0000117 "Anna Farne" xsd:string [Term] id: EFO:0003144 name: heart failure def: "Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction." [EFO:0003144] synonym: "cardiac dysfunction" EXACT [] synonym: "cardiac failure" EXACT [NCIT:C50577] synonym: "cardiac insufficiency" EXACT [NCIT:C50577] synonym: "failure, heart" EXACT [NCIT:C50577] synonym: "heart failure" EXACT [Wikipedia:Heart_failure] synonym: "heart failure" EXACT [] {comment="preferred label from MONDO"} synonym: "Heart failure (disorder)" EXACT [] synonym: "Heart failure NOS" EXACT [] synonym: "Heart failure NOS (disorder)" EXACT [] synonym: "Heart failure, unspecified" EXACT [] synonym: "Heart: [weak] or [failure NOS]" EXACT [] synonym: "insufficiency, Cardiac" EXACT [NCIT:C50577] synonym: "Weak heart" EXACT [] xref: ICD10:I50 xref: ICD9:428 {source="EFO:0003144"} xref: ICD9:428.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10007554 xref: MedDRA:10007564 xref: MedDRA:10019279 xref: MedDRA:10019284 xref: MedDRA:10019285 xref: MESH:D006333 {source="EFO:0003144", source="MONDO:equivalentTo"} xref: MeSH:D006333 xref: MONDO:0005252 xref: NCIT:C50577 {source="EFO:0003144", source="MONDO:equivalentTo"} xref: NCIt:C50577 xref: SCTID:84114007 {source="EFO:0003144", source="MONDO:equivalentTo"} xref: SNOMEDCT:84114007 xref: UMLS:CN236639 {source="MONDO:equivalentTo"} is_a: EFO:0003777 {source="MESH:D006333", source="NCIT:C50577/inferred"} ! heart disease relationship: EFO:0000784 UBERON:0000948 ! has_disease_location heart property_value: exactMatch http://identifiers.org/mesh/D006333 property_value: exactMatch http://identifiers.org/snomedct/84114007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN236639 property_value: exactMatch NCIT:C50577 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003145 name: high output heart failure def: "High-output heart failure is a heart condition that occurs when the cardiac output is higher than normal." [EFO:0003145] synonym: "high output cardiac failure" EXACT [] synonym: "high output heart failure" EXACT [] {comment="preferred label from MONDO"} synonym: "High output heart failure (disorder)" EXACT [] xref: MedDRA:10020080 xref: MONDO:0005253 xref: SCTID:10091002 {source="EFO:0003145", source="MONDO:equivalentTo"} xref: SNOMEDCT:10091002 xref: UMLS:C0221045 {source="MONDO:equivalentTo"} xref: Wikipedia:High-output_cardiac_failure {source="EFO:0003145"} is_a: EFO:0003144 {source="EFO:0003145"} ! heart failure property_value: exactMatch http://identifiers.org/snomedct/10091002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221045 property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003146 name: symptomatic heart failure def: "A heart failure which results in symptoms such as shortness of breath, fatigue, inability to exerciseb& etc" [EFO:0003146] def: "A heart failure which results in symptoms such as shortness of breath, fatigue, inability to exercise… etc" [] synonym: "ACC Stage C" EXACT [] synonym: "symptomatic heart failure" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0005254 is_a: EFO:0003144 {source="EFO:0003146"} ! heart failure property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003147 name: mild heart failure def: "Heart failure characterized by mild symptoms (mild shortness of breath and/or angina) and slight limitation during ordinary activity." [EFO:0003147] synonym: "mild heart failure" EXACT [] {comment="preferred label from MONDO"} synonym: "NYHA class II" EXACT [] xref: MONDO:0005255 xref: Wikipedia:New_York_Heart_Association_Functional_Classification {source="EFO:0003147"} is_a: EFO:0003146 {source="EFO:0003147"} ! symptomatic heart failure property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003148 name: moderate heart failure def: "Heart failure characterized by marked limitation in activity due to symptoms, even during less-than-ordinary activity, e.g. walking short distances (20b100 m). Patients with moderate heart failure are comfortable only at rest." [EFO:0003148] def: "Heart failure characterized by marked limitation in activity due to symptoms, even during less-than-ordinary activity, e.g. walking short distances (20–100 m). Patients with moderate heart failure are comfortable only at rest." [] synonym: "moderate heart failure" EXACT [] {comment="preferred label from MONDO"} synonym: "NYHA class III" EXACT [] xref: MONDO:0005256 xref: Wikipedia:New_York_Heart_Association_Functional_Classification {source="EFO:0003148"} is_a: EFO:0003146 {source="EFO:0003148"} ! symptomatic heart failure property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003149 name: advanced heart failure def: "Patients with advanced heart failure have severe limitations, experiences symptoms even while at rest and are mostly bedbound patients." [EFO:0003149] synonym: "ACC Stage D" EXACT [] synonym: "advanced heart failure" EXACT [] {comment="preferred label from MONDO"} synonym: "NYHA class IV" EXACT [] xref: MONDO:0005257 xref: Wikipedia:New_York_Heart_Association_Functional_Classification {source="EFO:0003149"} is_a: EFO:0003146 {source="EFO:0003149"} ! symptomatic heart failure property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003150 name: obsolete_African American def: "A term used in the United States to categorize a population group comprised of persons having origins in any of the black racial groups of Africa. Includes population subgroups (e.g., Kenyan, Nigerian, Haitian). The concept refers also to individuals who classify themselves as described." [] synonym: "Afro American" EXACT [] synonym: "Black" EXACT [] synonym: "BLACK OR AFRICAN AMERICAN" EXACT [] synonym: "Black Populations" EXACT [] xref: NCIt:C16352 xref: SNOMEDCT:15086000 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0568 [Term] id: EFO:0003151 name: obsolete_American xref: UMLS:C0596070 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0463 [Term] id: EFO:0003152 name: obsolete_Asian def: "Denotes a person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including Cambodia, China, India, Japan, Korea, Malaysia, Mongolia, Pakistan, the Philippine Islands, Thailand, and Vietnam." [] synonym: "Asians" EXACT [] xref: NCIt:C41260 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0008 [Term] id: EFO:0003153 name: obsolete_Asian Indian def: "In North America the term is used to distinguish a person having origins in the original peoples of the Indian sub-continent from Native Americans." [] synonym: "Asian Indians" EXACT [] synonym: "Hindu" EXACT [] synonym: "Indian" EXACT [] xref: NCIt:C41262 xref: SNOMEDCT:414481008 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0487 [Term] id: EFO:0003154 name: obsolete_Asian/Pacific Islander def: "Denotes a person having origins in any of the original peoples of Hawaii, Guam, Samoa, or other Pacific Islands. The term covers particularly people who identify themselves as part-Hawaiian, Native Hawaiian, Guamanian or Chamorro, Carolinian, Samoan, Chuukese (Trukese), Fijian, Kosraean, Melanesian, Micronesian, Northern Mariana Islander, Palauan, Papua New Guinean, Pohnpeian, Polynesian, Solomon Islander, Tahitian, Tokelauan, Tongan, Yapese, or Pacific Islander, not specified." [] synonym: "Native Hawaiian or Other Pacific Islander" EXACT [] xref: NCIt:C41219 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0574 [Term] id: EFO:0003155 name: obsolete_British xref: UMLS:C0596227 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0462 [Term] id: EFO:0003156 name: obsolete_Caucasian def: "Denotes person with European, Middle Eastern, or North African ancestral origin who identifies, or is identified, as White." [] synonym: "Caucasians" EXACT [] synonym: "Caucasoid" EXACT [] synonym: "European" EXACT [] synonym: "Occidental" EXACT [] synonym: "White" EXACT [] synonym: "Whites" EXACT [] xref: NCIt:C41261 xref: NCIt:C43851 xref: NCIt:C48325 xref: SNOMEDCT:14045001 xref: SNOMEDCT:413773004 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0005 [Term] id: EFO:0003157 name: obsolete_Chinese def: "Denotes the inhabitants of China, a person from there, or their descendants elsewhere." [] xref: NCIt:C43391 xref: SNOMEDCT:33897005 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0021 [Term] id: EFO:0003158 name: obsolete_Eastern Indian property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0487 [Term] id: EFO:0003159 name: obsolete_European-American property_value: definition:citation http://en.wikipedia.org/wiki/European_American xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0005 [Term] id: EFO:0003160 name: obsolete_Filipino def: "Denotes the inhabitants of the Philippine Islands, a person from there, or their descendants elsewhere." [] xref: NCIt:C43393 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0498 [Term] id: EFO:0003161 name: obsolete_Han Chinese def: "Han Chinese are an ethnic group native to East Asia. Han Chinese constitute about 92% of the population of the People's Republic of China (mainland China)" [] synonym: "CHB" EXACT [] synonym: "Han People" EXACT [] property_value: definition:citation http://en.wikipedia.org/wiki/Han_Chinese xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string property_value: IAO:0000117 "Han Chinese" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0027 [Term] id: EFO:0003162 name: obsolete_Iranian def: "Denotes the inhabitants of Iran, a person from there, or their descendants elsewhere." [] xref: NCIt:C43869 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0438 [Term] id: EFO:0003163 name: obsolete_Irish def: "Denotes the inhabitants of Ireland, a person from there, or their descendants elsewhere." [] xref: NCIt:C43856 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0383 [Term] id: EFO:0003164 name: obsolete_Japanese def: "Denotes the inhabitants of Japan, a person from there, or their descendants elsewhere." [] synonym: "JPT" EXACT [] xref: NCIt:C43392 xref: SNOMEDCT:414551003 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0019 [Term] id: EFO:0003165 name: obsolete_Korean def: "Denotes the inhabitants of Korea, a person from there, or their descendants elsewhere." [] xref: NCIt:C43395 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0022 [Term] id: EFO:0003166 name: obsolete_Latino def: "A person of Mexican, Puerto Rican, Cuban, Central or South American or other Spanish culture or origin, regardless of race. An arbitrary ethnic classification." [] synonym: "Hispanic" EXACT [] synonym: "Hispanic or Latino" EXACT [] synonym: "Hispanic Populations" EXACT [] synonym: "Hispanics or Latinos" EXACT [] synonym: "Latino Population" EXACT [] synonym: "Spanish Origin" EXACT [] xref: NCIt:C17459 xref: SNOMEDCT:414408004 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0014 [Term] id: EFO:0003167 name: obsolete_Pima Indian synonym: "Pima" EXACT [] xref: NCIt:C44085 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0570 [Term] id: EFO:0003168 name: obsolete_Hawaiian def: "Denotes a person having origins in any of the original peoples of Hawaii, a person from there, or their descendants elsewhere." [] synonym: "Native Hawaiian" EXACT [] xref: NCIt:C43394 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0573 [Term] id: EFO:0003169 name: obsolete_Hispanic def: "A person of Mexican, Puerto Rican, Cuban, Central or South American or other Spanish culture or origin, regardless of race. An arbitrary ethnic classification." [] comment: Tomasz Adamusiak synonym: "Hispanic or Latino" EXACT [] synonym: "Hispanic Populations" EXACT [] synonym: "Hispanics or Latinos" EXACT [] synonym: "Latino Population" EXACT [] synonym: "Spanish Origin" EXACT [] xref: NCIt:C17459 xref: SNOMEDCT:414408004 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0014 [Term] id: EFO:0003172 name: pleiotrophin def: "Pleiotrophin (PTN) also known as heparin-binding brain mitogen (HBBM) or heparin-binding growth factor 8 (HBGF-8) or neurite growth-promoting factor 1 (NEGF1) or heparin affinity regulatory peptide (HARP) or heparin binding growth associated molecule (HB-GAM) is a protein that in humans is encoded by the PTN gene.[1] Pleiotrophin is an 18-kDa growth factor that has a high affinity for heparin. It is structurally related to midkine and retinoic acid induced heparin-binding protein." [] xref: CASRN:134034-50-7 xref: DSSTox_Generic_SID:40590 xref: MeSH:C066845 xref: NCIt:C20452 is_a: CHEBI:36080 ! protein property_value: definition:citation http://en.wikipedia.org/wiki/Pleiotrophin xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003183 name: thrombin def: "Thrombin is a \"trypsin-like\" serine protease protein that in humans is encoded by the F2 gene.[2][3] Prothrombin (coagulation factor II) is proteolytically cleaved to form thrombin in the coagulation cascade, which ultimately results in the stemming of blood loss. Thrombin in turn acts as a serine protease that converts soluble fibrinogen into insoluble strands of fibrin, as well as catalyzing many other coagulation-related reactions." [] xref: DSSTox_Generic_SID:40626 xref: MeSH:D013917 xref: NCIt:C87773 xref: OMIM:176930 xref: SNOMEDCT:36176003 xref: SNOMEDCT:415715002 is_a: CHEBI:36080 ! protein property_value: definition:citation http://en.wikipedia.org/wiki/Thrombin xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003191 name: ocimene xref: CASRN:3779-61-1 xref: DSSTox_CID:20567 xref: DSSTox_Generic_SID:40567 xref: STRUCTURE_ChemicalName_IUPAC:(3E)-3\,7-dimethylocta-1\,3\,6-triene xref: STRUCTURE_Formula:C10H16 is_a: CHEBI:36080 ! protein property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003199 name: leptin xref: CASRN:169494-85-3 xref: DSSTox_Generic_SID:39725 xref: MeSH:D020738 xref: NCIt:C46081 xref: SNOMEDCT:414601001 is_a: CHEBI:36080 ! protein relationship: has_role EFO:0001824 ! hormone role property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003200 name: oncostatin M xref: CASRN:106956-32-5 xref: DSSTox_Generic_SID:37070 xref: MeSH:D053683 xref: OMIM:165095 is_a: EFO:0004100 ! interleukin property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003233 name: erythropoietin def: "Erythropoietin, or its alternatives erythropoetin or erthropoyetin (/ɨˌrɪθrɵˈpɔɪ.ɨtɨn/, /ɨˌrɪθrɵˈpɔɪtən/, or /ɨˌriːθrɵ-/) or EPO, is a glycoprotein hormone that controls erythropoiesis, or red blood cell production. It is a cytokine (protein signaling molecule) for erythrocyte (red blood cell) precursors in the bone marrow." [] xref: CASRN:11096-26-7 xref: DSSTox_Generic_SID:39678 xref: MeSH:D004921 xref: NCIt:C20429 xref: OMIM:133170 xref: SNOMEDCT:83042003 is_a: CHEBI:17089 ! glycoprotein relationship: has_role EFO:0001824 ! hormone role property_value: definition:citation http://en.wikipedia.org/wiki/Erythropoietin xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003234 name: follicle stimulating hormone synonym: "FSH" EXACT [] xref: CASRN:9002-68-0 xref: DSSTox_Generic_SID:40483 xref: MeSH:D005640 is_a: CHEBI:36080 ! protein relationship: has_role EFO:0001824 ! hormone role property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003236 name: thrombopoietin def: "Thrombopoietin (THPO) also known as megakaryocyte growth and development factor (MGDF) is a protein that in humans is encoded by the THPO gene. Thrombopoietin is a glycoprotein hormone produced mainly by the liver and the kidney that regulates the production of platelets by the bone marrow. It stimulates the production and differentiation of megakaryocytes, the bone marrow cells that fragment into large numbers of platelets.[1]" [] xref: CASRN:9014-42-0 xref: DSSTox_Generic_SID:40918 xref: MeSH:D013926 xref: NCIt:C20441 xref: OMIM:600044 xref: SNOMEDCT:18617001 is_a: CHEBI:17089 ! glycoprotein relationship: has_role EFO:0001824 ! hormone role property_value: definition:citation http://en.wikipedia.org/wiki/Thrombopoietin xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003237 name: chitin octamer synonym: "chitooctaose" EXACT [] xref: CASRN:98632-70-3 xref: DSSTox_CID:20445 xref: DSSTox_Generic_SID:40445 xref: MeSH:C525074 xref: STRUCTURE_ChemicalName_IUPAC:2-(acetylamino)-2-deoxy-beta-D-glucopyranosyl-(1->4)-2-(acetylamino)-2-deoxy-beta-D-glucopyranosyl-(1->4)-2-(acetylamino)-2-deoxy-beta-D-glucopyranosyl-(1->4)-2-(acetylamino)-2-deoxy-beta-D-glucopyranosyl-(1->4)-2-(acetylamino)-2-deoxy-beta-D-glucopyranosyl-(1->4)-2-(acetylamino)-2-deoxy-beta-D-glucopyranosyl-(1->4)-2-(acetylamino)-2-deoxy-beta-D-glucopyranosyl-(1->4)-2-(acetylamino)-2-deoxy-beta-D-glucopyranose xref: STRUCTURE_Formula:C64H106N8O41 is_a: CHEBI:24431 ! chemical entity property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003241 name: flagellin xref: CASRN:12777-81-0 xref: DSSTox_Generic_SID:40482 xref: MeSH:D005408 xref: SNOMEDCT:428466008 is_a: CHEBI:36080 ! protein property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003266 name: neuromedin U def: "Neuromedin U (or NmU) is a neuropeptide found in the brain of humans and other mammals, which has a number of diverse functions including contraction of smooth muscle, regulation of blood pressure, pain perception, appetite, bone growth, and hormone release. It was first isolated from the spinal cord in 1985, and named after its ability to cause smooth muscle contraction in the uterus." [] xref: CASRN:117505-80-3 xref: DSSTox_Generic_SID:40559 xref: MeSH:C056900 xref: NCIt:C33975 is_a: CHEBI:36080 ! protein property_value: definition:citation "neuromedin U" xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003271 name: tumor necrosis factor-alpha def: "Tumor necrosis factor (TNF, cachexin or cachectin formerly known as tumor necrosis factor-alpha or TNF-α) is a cytokine involved in systemic inflammation and is a member of a group of cytokines that stimulate the acute phase reaction. It is produced chiefly by activated macrophages, although it can be produced by other cell types as well." [] synonym: "TNF-alpha; tumor necrosis factor" EXACT [] xref: CASRN:308079-78-9 xref: DSSTox_CID:40634 xref: MeSH:D014409 xref: OMIM:191160 is_a: EFO:0003786 ! cytokine relationship: has_role EFO:0003787 ! cytokine role property_value: definition:citation http://en.wikipedia.org/wiki/Tumour_necrosis_factor-alpha xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003276 name: vascular endothelial growth factor def: "Vascular endothelial growth factor (VEGF) is a signal protein produced by cells that stimulates vasculogenesis and angiogenesis. It is part of the system that restores the oxygen supply to tissues when blood circulation is inadequate. Serum concentration of VEGF is high in bronchial asthma and low in diabetes mellitus. VEGF's normal function is to create new blood vessels during embryonic development, new blood vessels after injury, muscle following exercise, and new vessels (collateral circulation) to bypass blocked vessels.\nWhen VEGF is overexpressed, it can contribute to disease. Solid cancers cannot grow beyond a limited size without an adequate blood supply; cancers that can express VEGF are able to grow and metastasize. Overexpression of VEGF can cause vascular disease in the retina of the eye and other parts of the body. Drugs such as bevacizumab can inhibit VEGF and control or slow those diseases.\nVEGF is a sub-family of growth factors, to be specific, the platelet-derived growth factor family of cystine-knot growth factors. They are important signaling proteins involved in both vasculogenesis (the de novo formation of the embryonic circulatory system) and angiogenesis (the growth of blood vessels from pre-existing vasculature)." [] synonym: "VEGF" EXACT [] xref: CASRN:127464-60-2 xref: DSSTox_Generic_SID:40639 xref: OMIM:192240 xref: SNOMEDCT:417324009 is_a: CHEBI:36080 ! protein property_value: definition:citation http://en.wikipedia.org/wiki/Vascular_endothelial_growth_factor xsd:string property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003292 name: interleukin-2 (Mus musculus) synonym: "IL-2" EXACT [] xref: CASRN:102524-44-7 xref: DSSTox_Generic_SID:40516 is_a: EFO:0004100 ! interleukin relationship: RO:0001000 NCBITaxon:10090 ! derives_from Mus musculus property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003294 name: listeriolysin xref: CASRN:72270-41-8 xref: DSSTox_Generic_SID:42688 is_a: CHEBI:36080 ! protein relationship: has_role CHEBI:27026 ! toxin property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003296 name: interleukin-4 (Homo sapiens) synonym: "IL-4" EXACT [] xref: CASRN:207137-56-2 xref: DSSTox_CID:37158 is_a: EFO:0004100 ! interleukin relationship: RO:0001000 NCBITaxon:9606 ! derives_from Homo sapiens property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003298 name: epidermal growth factor synonym: "EGF" EXACT [] xref: CASRN:62229-50-9 xref: DSSTox_Generic_SID:40469 xref: MeSH:D004815 xref: NCIt:C20425 xref: OMIM:131530 xref: SNOMEDCT:259616001 is_a: CHEBI:36080 ! protein property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003303 name: hepatocyte growth factor synonym: "HGF" EXACT [] xref: CASRN:67256-21-7 xref: DSSTox_Generic_SID:40491 xref: MeSH:D017228 xref: NCIt:C20428 xref: OMIM:142409 is_a: CHEBI:36080 ! protein property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003304 name: anti-CD28 xref: DSSTox_Generic_SID:40416 is_a: CHEBI:36080 ! protein property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003308 name: heregulin B1 def: "Hereregulin b1 is a signaling protein for ErbB2/ErbB4 receptor heterodimers on the cardiac muscle cells." [] synonym: "HRG" EXACT [] xref: CASRN:155646-83-6 xref: DSSTox_Generic_SID:40493 is_a: CHEBI:36080 ! protein property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003316 name: basic fibroblast growth factor synonym: "bFGF" EXACT [] xref: CASRN:106096-93-9 xref: DSSTox_Generic_SID:40423 xref: OMIM:131220 is_a: CHEBI:36080 ! protein property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003317 name: anti-CD3 xref: DSSTox_Generic_SID:44052 is_a: CHEBI:36080 ! protein property_value: IAO:0000117 "Ele Holloway" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003331 name: zebrafish component is_a: UBERON:0000061 ! anatomical structure property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003332 name: zebrafish embryonic structure is_a: EFO:0003331 ! zebrafish component property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003333 name: Drosophila developmental tissue is_a: EFO:0003334 ! Drosophila component property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003334 name: Drosophila component is_a: UBERON:0000061 ! anatomical structure property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003335 name: Drosophila embryonic structure is_a: EFO:0003334 ! Drosophila component property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003336 name: obsolete_mesectoderm anlage property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00000109 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00000109 [Term] id: EFO:0003337 name: obsolete_head mesoderm property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00000127 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00000127 [Term] id: EFO:0003338 name: obsolete_embryonic optic lobe primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_6000186 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_6000186 [Term] id: EFO:0003339 name: obsolete_posterior spiracle primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00000197 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00000197 [Term] id: EFO:0003340 name: obsolete_posterior endoderm anlage property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00000447 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00000447 [Term] id: EFO:0003341 name: obsolete_ventral thoracic disc property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_6001780 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_6001780 [Term] id: EFO:0003342 name: obsolete_hindgut anlage property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00004202 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00004202 [Term] id: EFO:0003343 name: obsolete_ventral ectoderm anlage property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00004204 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00004204 [Term] id: EFO:0003344 name: obsolete_tracheal primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_6005037 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_6005037 [Term] id: EFO:0003345 name: obsolete_foregut anlage property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005431 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005431 [Term] id: EFO:0003346 name: obsolete_visual anlage property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_6005434 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_6005434 [Term] id: EFO:0003347 name: obsolete_hypopharynx anlage property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005442 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005442 [Term] id: EFO:0003348 name: obsolete_pericardial cell primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005466 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005466 [Term] id: EFO:0003349 name: obsolete_visceral muscle primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005519 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005519 [Term] id: EFO:0003350 name: obsolete_inclusive hindgut primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005523 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005523 [Term] id: EFO:0003351 name: obsolete_gnathal primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005534 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005534 [Term] id: EFO:0003352 name: obsolete_foregut primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005535 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005535 [Term] id: EFO:0003353 name: obsolete_maxillary sensory complex primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005544 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005544 [Term] id: EFO:0003354 name: obsolete_labial sensory complex primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005545 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005545 [Term] id: EFO:0003355 name: obsolete_labral sensory complex primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005546 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005546 [Term] id: EFO:0003356 name: obsolete_head mesoderm anlage property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005548 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005548 [Term] id: EFO:0003357 name: obsolete_proventriculus primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005550 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005550 [Term] id: EFO:0003358 name: obsolete_sensory nervous system primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005551 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005551 [Term] id: EFO:0003359 name: obsolete_ventral sensory complex primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005552 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005552 [Term] id: EFO:0003360 name: obsolete_ventral imaginal precursor property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005834 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005834 [Term] id: EFO:0003361 name: obsolete_head visceral muscle primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00007049 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00007049 [Term] id: EFO:0003362 name: obsolete_central brain anlage property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00015256 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00015256 [Term] id: EFO:0003363 name: obsolete_amnioserosa primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00017000 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00017000 [Term] id: EFO:0003364 name: obsolete_visceral branch primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00017003 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00017003 [Term] id: EFO:0003365 name: obsolete_longitudinal visceral muscle primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00017008 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00017008 [Term] id: EFO:0003366 name: obsolete_primary segmental branch primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00017011 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00017011 [Term] id: EFO:0003367 name: obsolete_oenocyte primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00017020 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00017020 [Term] id: EFO:0003368 name: obsolete_hindgut proper primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00000441 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00000441 [Term] id: EFO:0003369 name: obsolete_Malpighian tubule primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00000442 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00000442 [Term] id: EFO:0003370 name: posterior midgut proper primordium synonym: "P1 antEndoP" EXACT [] synonym: "posterior midgut primordium" EXACT [] synonym: "postMGP2" EXACT [] xref: FBbt:00000448 is_a: EFO:0003335 ! Drosophila embryonic structure property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003371 name: obsolete_embryonic inner optic lobe primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00000461 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00000461 [Term] id: EFO:0003372 name: obsolete_visual primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_6001059 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_6001059 [Term] id: EFO:0003373 name: obsolete_fat body primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005067 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005067 [Term] id: EFO:0003374 name: obsolete_hindgut anlage in statu nascendi property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005424 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005424 [Term] id: EFO:0003375 name: obsolete_visual anlage in statu nascendi property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_6005425 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_6005425 [Term] id: EFO:0003376 name: obsolete_Malpighian tubule main body primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005501 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005501 [Term] id: EFO:0003377 name: obsolete_small intestine primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005504 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005504 [Term] id: EFO:0003378 name: obsolete_large intestine primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005505 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005505 [Term] id: EFO:0003379 name: obsolete_rectum primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005506 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005506 [Term] id: EFO:0003380 name: obsolete_pars intercerebralis primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005511 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005511 [Term] id: EFO:0003381 name: obsolete_salivary gland body primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005512 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005512 [Term] id: EFO:0003382 name: obsolete_somatic muscle primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005518 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005518 [Term] id: EFO:0003383 name: obsolete_midline primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005528 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005528 [Term] id: EFO:0003384 name: obsolete_ventral epidermis primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_6005533 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_6005533 [Term] id: EFO:0003385 name: obsolete_stomatogastric nervous system primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005536 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005536 [Term] id: EFO:0003386 name: obsolete_central brain primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005542 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005542 [Term] id: EFO:0003387 name: obsolete_ventral midline neuroblast property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005565 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005565 [Term] id: EFO:0003388 name: obsolete_embryonic maxillary sensory complex property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005618 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005618 [Term] id: EFO:0003389 name: obsolete_embryonic hindgut property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005630 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005630 [Term] id: EFO:0003390 name: obsolete_embryonic Malpighian tubule tip cell property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005643 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005643 [Term] id: EFO:0003391 name: obsolete_embryonic outer optic lobe primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005822 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005822 [Term] id: EFO:0003392 name: obsolete_hypopharynx anlage in statu nascendi property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00016000 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00016000 [Term] id: EFO:0003393 name: obsolete_hypopharyngeal sense organ primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00016001 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00016001 [Term] id: EFO:0003394 name: obsolete_embryonic stomatogastric nervous system property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00001069 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00001069 [Term] id: EFO:0003395 name: obsolete_ring gland property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_6001722 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_6001722 [Term] id: EFO:0003396 name: obsolete_prothoracic gland property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00001724 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00001724 [Term] id: EFO:0003397 name: hypopharyngeal sense organ def: "Multiply innervated sensillum, composed of an anterior and a posterior sensillum, located on the floor of the larval pharynx. It is innervated by 3 or 4 neurons whose axons join an anteriorly directed bundle that joins the labral nerve." [] synonym: "hpo" EXACT [] synonym: "larval pharyngeal sense organ" EXACT [] synonym: "Organ X" EXACT [] synonym: "posterior pharyngeal sensilla" EXACT [] synonym: "PPS" EXACT [] synonym: "X-organ of Keilin" EXACT [] xref: FBbt:00002665 is_a: EFO:0003334 ! Drosophila component property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003398 name: obsolete_capitellum property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00004784 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00004784 [Term] id: EFO:0003399 name: obsolete_pole plasm property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00004891 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00004891 [Term] id: EFO:0003400 name: obsolete_trunk mesoderm anlage property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_6005436 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_6005436 [Term] id: EFO:0003401 name: obsolete_ventral nerve cord primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005554 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005554 [Term] id: EFO:0003402 name: obsolete_ventral midline neuron property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005566 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005566 [Term] id: EFO:0003403 name: obsolete_ventral midline glia property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00001315 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00001315 [Term] id: EFO:0003404 name: obsolete_embryonic tracheole property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005571 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005571 [Term] id: EFO:0003405 name: obsolete_embryonic proventriculus inner layer property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005608 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005608 [Term] id: EFO:0003406 name: obsolete_embryonic proventriculus intermediate layer property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005609 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005609 [Term] id: EFO:0003407 name: obsolete_embryonic proventriculus outer layer property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005610 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005610 [Term] id: EFO:0003408 name: obsolete_larval labral segment property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_6001734 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_6001734 [Term] id: EFO:0003409 name: obsolete_embryonic labial sensory complex property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005619 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005619 [Term] id: EFO:0003410 name: embryonic midgut interstitial cell xref: FBbt:00005626 is_a: EFO:0003334 ! Drosophila component property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003411 name: obsolete_embryonic hypocerebral ganglion property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005669 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005669 [Term] id: EFO:0003412 name: obsolete_lateral cord glia property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005673 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005673 [Term] id: EFO:0003413 name: obsolete_lateral cord neuron property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005675 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005675 [Term] id: EFO:0003414 name: obsolete_embryonic leading edge cell property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005746 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005746 [Term] id: EFO:0003415 name: obsolete_embryonic ventral apodeme property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005749 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005749 [Term] id: EFO:0003416 name: obsolete_lateral cord surface glia property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00005824 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00005824 [Term] id: EFO:0003417 name: obsolete_ring gland primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00017009 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00017009 [Term] id: EFO:0003418 name: obsolete_cibarium primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00017019 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00017019 [Term] id: EFO:0003419 name: obsolete_forerunner cell group property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/ZFA_0000023 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/ZFA_0000023 [Term] id: EFO:0003420 name: obsolete_olfactory placode def: "Neurogenic placode that gives rise to the olfactory neurons that which convey odor information to the CNS." [] synonym: "olfactory placodes" EXACT [] xref: ZFA:0000048 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0003050\nlabel: olfactory placode" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003050 [Term] id: EFO:0003421 name: obsolete_presumptive segmental plate synonym: "presumptive segmental plates" EXACT [] xref: ZFA:0000053 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0007282\nlabel: presumptive segmental plate" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0007282 [Term] id: EFO:0003422 name: obsolete_polster property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000058 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000058 [Term] id: EFO:0003423 name: obsolete_presumptive forebrain property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0006240 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0006240 [Term] id: EFO:0003424 name: obsolete_presumptive neural plate def: "Region of the gastrula which gives rise to the neural plate." [] synonym: "neurectoderm" EXACT [] synonym: "presumptive central nervous system" EXACT [] synonym: "prospective neuroectoderm" EXACT [] synonym: "prospective vegetal ectoderm" EXACT [] xref: ZFA:0000063 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0007284\nlabel: presumptive neural plate" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0007284 [Term] id: EFO:0003425 name: obsolete_enveloping layer property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0007383 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0007383 [Term] id: EFO:0003426 name: obsolete_axial chorda mesoderm synonym: "chordamesoderm" EXACT [] synonym: "presumptive notochord" EXACT [] xref: ZFA:0000091 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0004880 label : chordamesoderm" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0004880 [Term] id: EFO:0003427 name: obsolete_germ ring xref: ZFA:0000111 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002541\nlabel: germ ring" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002541 [Term] id: EFO:0003428 name: obsolete_liver primordium synonym: "liver bud" EXACT [] xref: ZFA:0000124 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0003894\nlabel: liver primordium" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003894 [Term] id: EFO:0003429 name: obsolete_otic placode def: "Primordium of the ear epithelium before it hollows into the otic vesicle, present beside the hindbrain rudiment in the mid-segmentation period. (Also see Anatomical Atlas entry for ear by T. Whitfield.)" [] def: "Primordium of the ear epithelium before it hollows into the otic vesicle, present beside the hindbrain rudiment in the midsegmentation period. (Also see Anatomical Atlas entry for ear by T. Whitfield.)" [] xref: ZFA:0000138 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0003069\nLabel: otic placode" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003069 [Term] id: EFO:0003430 name: obsolete_pectoral fin bud property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/ZFA_0000141 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/ZFA_0000141 [Term] id: EFO:0003431 name: obsolete_presumptive brain property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0006238 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0006238 [Term] id: EFO:0003432 name: obsolete_presumptive midbrain synonym: "presumptive mesencephalon" EXACT [] xref: ZFA:0000148 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0009616\nlabel: presumptive midbrain" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0009616 [Term] id: EFO:0003433 name: obsolete_trigeminal placode def: "The ectodermal rudiment of the trigeminal ganglion, distinguishable during much of the segmentation period." [] synonym: "trigeminal placodes" EXACT [] xref: ZFA:0000162 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0003070\nlabel: trigeminal placode" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003070 [Term] id: EFO:0003434 name: obsolete_pancreas primordium xref: ZFA:0000254 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0003921\nlabel: pancreas primordium" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003921 [Term] id: EFO:0003435 name: obsolete_presumptive dorsal mesoderm property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/ZFA_0000265 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/ZFA_0000265 [Term] id: EFO:0003436 name: obsolete_presumptive cephalic mesoderm property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000414 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000414 [Term] id: EFO:0003437 name: obsolete_presumptive endoderm xref: ZFA:0000416 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0006595\nlabel: presumptive endoderm" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0006595 [Term] id: EFO:0003438 name: obsolete_presumptive spinal cord synonym: "presumptive spinal cord neural keel" EXACT [] synonym: "presumptive spinal cord neural plate" EXACT [] synonym: "presumptive spinal cord neural rod" EXACT [] xref: ZFA:0000417 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0006241 label : future spinal cord" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0006241 [Term] id: EFO:0003439 name: obsolete_presumptive blood xref: ZFA:0000568 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibr\nary.org/obo/UBERON_0006596\nlabel: presumptive blood" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0006596 [Term] id: EFO:0003440 name: obsolete_presumptive hindbrain synonym: "presumptive rhombencephalon" EXACT [] xref: ZFA:0000569 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0007277\nlabel: presumptive hindbrain" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0007277 [Term] id: EFO:0003441 name: obsolete_presumptive telencephalon property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0014371 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0014371 [Term] id: EFO:0003442 name: obsolete_presumptive diencephalon property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0006222 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0006222 [Term] id: EFO:0003443 name: obsolete_presumptive paraxial mesoderm xref: ZFA:0000591 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0007285\nlabel: presumptive paraxial mesoderm" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0007285 [Term] id: EFO:0003444 name: obsolete_presumptive shield xref: ZFA:0001121 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0007283\nlabel: presumptive shield" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0007283 [Term] id: EFO:0003445 name: obsolete_posterior lateral line placode property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001156 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001156 [Term] id: EFO:0003446 name: obsolete_presumptive midbrain hindbrain boundary synonym: "presumptive midbrain-hindbrain boundary" EXACT [] xref: ZFA:0001187 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0007281\nlabel: presumptive midbrain hindbrain boundary" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0007281 [Term] id: EFO:0003447 name: obsolete_presumptive rhombomere 7 xref: ZFA:0001209 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0007294\nlabel: presumptive rhombomere 7" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0007294 [Term] id: EFO:0003448 name: obsolete_presumptive rhombomere 6 xref: ZFA:0001210 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0007293\nlabel:presumptive rhombomere 6" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0007293 [Term] id: EFO:0003449 name: obsolete_presumptive rhombomere 5 xref: ZFA:0001211 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0007292\nlabel: presumptive rhombomere 5" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0007292 [Term] id: EFO:0003450 name: obsolete_presumptive rhombomere 4 xref: ZFA:0001212 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0007291\nlabel: presumptive rhombomere 4" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0007291 [Term] id: EFO:0003451 name: obsolete_presumptive rhombomere 3 xref: ZFA:0001213 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0007290\nlabel: presumptive rhombomere 3" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0007290 [Term] id: EFO:0003452 name: obsolete_presumptive rhombomere 8 xref: ZFA:0001214 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0007295\nlabel: presumptive rhombomere 8" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0007295 [Term] id: EFO:0003453 name: obsolete_presumptive hypochord xref: ZFA:0001217 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0006599\nlabel; presumptive hypochord" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0006599 [Term] id: EFO:0003454 name: obsolete_presumptive floor plate def: "Part of the neural plate fated to become floor plate." [] xref: ZFA:0001218 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0007286\nlabel: presumptive floor plate" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0007286 [Term] id: EFO:0003455 name: obsolete_epibranchial placode def: "Neurogenic placodes that generate neurons of the distal facial, glossopharyngeal and vagal ganglia, which convey sensation from the viscera, including pharyngeal endoderm structures, to the CNS. The epibranchial placodes are positioned ventrally to the ear and dorsally to the posterior pharyngeal pouches" [] synonym: "epibranchial placodes" EXACT [] xref: ZFA:0001294 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0003078\nlabel: epibranchial placode" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003078 [Term] id: EFO:0003456 name: obsolete_vagal placode 1 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001297 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001297 [Term] id: EFO:0003457 name: obsolete_vagal placode 2 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001298 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001298 [Term] id: EFO:0003458 name: obsolete_vagal placode 3 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001299 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001299 [Term] id: EFO:0003459 name: obsolete_vagal placode 4 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001300 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001300 [Term] id: EFO:0003460 name: obsolete_neurogenic placode def: "Neurogenic placodes are transient ectodermal thickenings that form at the border of the neural plate and epidermis and give rise to sensory neurons of the cranial ganglia" [] def: "Neurogenic placodes are transient ectodermal thickenings that form at the border of the neural plate and epidermis and give rise to sensory neurons of the cranial ganglia." [] synonym: "neurogenic placodes" EXACT [] xref: ZFA:0001309 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0009955\nlabel: neurogenic placode" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0009955 [Term] id: EFO:0003461 name: obsolete_anterior lateral line placode property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001316 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001316 [Term] id: EFO:0003462 name: obsolete_presumptive enteric nervous system xref: ZFA:0001334 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0006600\nlabel: presumptive enteric nervous system" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0006600 [Term] id: EFO:0003463 name: obsolete_presumptive forebrain midbrain boundary xref: ZFA:0001368 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0007288\nlabel: presumptive forebrain midbrain boundary" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0007288 [Term] id: EFO:0003464 name: obsolete_anterior pancreatic bud property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/ZFA_0001369 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/ZFA_0001369 [Term] id: EFO:0003465 name: obsolete_posterior pancreatic bud property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/ZFA_0001370 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/ZFA_0001370 [Term] id: EFO:0003466 name: obsolete_presumptive ectoderm def: "Presumptive structure at the animal poll of the blastula that will develop into ectoderm via the epiblast. Determined by fate mapping." [] synonym: "presumptive epidermis" EXACT [] xref: ZFA:0001376 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0006601\nlabel: presumptive ectoderm" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0006601 [Term] id: EFO:0003467 name: obsolete_presumptive mesoderm xref: ZFA:0001377 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0006603\nlabel: presumptive mesoderm" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0006603 [Term] id: EFO:0003468 name: obsolete_fin bud property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0002531 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002531 [Term] id: EFO:0003469 name: obsolete_pelvic fin bud property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/ZFA_0001384 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/ZFA_0001384 [Term] id: EFO:0003470 name: obsolete_pancreatic bud synonym: "pancreatic buds" EXACT [] xref: ZFA:0001390 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0003922\nlabel: pancreatic bud" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003922 [Term] id: EFO:0003471 name: obsolete_presumptive ventral fin fold property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2005103 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2005103 [Term] id: EFO:0003472 name: obsolete_caudal artery def: "Extension of the dorsal aorta in the tail." [] synonym: "CA" EXACT [] xref: ZFA:0000011 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0003086\nlabel: caudal artery" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003086 [Term] id: EFO:0003473 name: obsolete_floor plate def: "Multi-tissue structure that is the ventral-most aspect of the developing neural tube. The floor plate is a specialized glial structure that spans the rostral-caudal axis from the midbrain to the tail regions." [] synonym: "flexural organ" EXACT [] synonym: "floorplate" EXACT [] synonym: "fp" EXACT [] xref: ZFA:0000022 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0003079\nlabel: floor plate" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003079 [Term] id: EFO:0003474 name: obsolete_macula utricle property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0002214 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002214 [Term] id: EFO:0003475 name: obsolete_hypochord def: "Portion of tissue that arises from the arise from the lateral edges of the shield and is located immediately ventral to the notochord. The hypochord is thought to play a role in positioning the dorsal aorta. Unlike in frogs and axolotl, the hypochord does not appear to be endodermally derived." [] xref: ZFA:0000031 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0003058\nlabel: hypochord" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003058 [Term] id: EFO:0003476 name: obsolete_intermediate cell mass of mesoderm property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000033 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000033 [Term] id: EFO:0003477 name: obsolete_median fin fold property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000040 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000040 [Term] id: EFO:0003478 name: obsolete_postoptic commissure synonym: "POC" EXACT [] synonym: "post optic commissure" EXACT [] synonym: "post-optic commissure" EXACT [] xref: ZFA:0000059 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0003936\nlabel: postoptic commissure" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003936 [Term] id: EFO:0003479 name: obsolete_pronephric mesoderm xref: ZFA:0000067 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0005721\nlabel: pronephric mesoderm" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005721 [Term] id: EFO:0003480 name: obsolete_rhombomere 6 def: "Hindbrain segment or neuromere." [] synonym: "r6" EXACT [] xref: ZFA:0000069 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0005519\nlabel: rhombomere 6" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005519 [Term] id: EFO:0003481 name: obsolete_somite 1 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000072 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000072 [Term] id: EFO:0003482 name: obsolete_somite 5 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000073 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000073 [Term] id: EFO:0003483 name: obsolete_swim bladder def: "The swim bladder is a double-chambered organ located in the coelom and used to maintain buoyancy and may function as an acoustic resonator. The zebrafish does not appear to have a gas gland, but it is not yet clear if there are gas producing cells distributed more widely." [] synonym: "gas bladder" EXACT [] xref: ZFA:0000076 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0006860\nlabel: swim bladder" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0006860 [Term] id: EFO:0003484 name: obsolete_trigeminal neural crest def: "Cranial neural crest which gives rise to the trigeminal ganglion." [] xref: ZFA:0000080 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0005563\nlabel: trigeminal neural crest" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005563 [Term] id: EFO:0003485 name: obsolete_trunk mesenchyme xref: ZFA:0000081 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0005256\nlabel: trunk mesenchyme" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005256 [Term] id: EFO:0003486 name: obsolete_ventral mesoderm property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000083 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000083 [Term] id: EFO:0003487 name: obsolete_apical ectodermal ridge pectoral fin bud property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/ZFA_0000085 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/ZFA_0000085 [Term] id: EFO:0003488 name: obsolete_apical ectodermal ridge dorsal fin property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000090 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000090 [Term] id: EFO:0003489 name: obsolete_blood island def: "Nests of developing blood cells arising late in the segmentation period from the intermediate mass, and located in the anterior-ventral tail, just posterior to the yolk extension." [] synonym: "blood islands" EXACT [] synonym: "caudal hematopoietic tissue" EXACT [] synonym: "posterior blood island" EXACT [] synonym: "posterior ICM" EXACT [] xref: ZFA:0000094 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0003061\nlabel: blood island" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003061 [Term] id: EFO:0003490 name: obsolete_cardinal system property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000096 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000096 [Term] id: EFO:0003491 name: obsolete_brain vasculature xref: ZFA:0000099 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0005284\nlabel: brain vasculature" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005284 [Term] id: EFO:0003492 name: obsolete_head mesenchyme def: "Mesoderm that will give rise, along with cranial neural crest cells, to connective tissue, bone and musculature in the head. (Source: BioGlossary, www.Biology-Text.com)" [] xref: ZFA:0000113 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0005253\nlabel: head mesenchyme" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005253 [Term] id: EFO:0003493 name: obsolete_lateral line ganglion property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000120 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000120 [Term] id: EFO:0003494 name: obsolete_lens placode def: "Ectodermal primordium of the lens of the eye." [] synonym: "lens placodes" EXACT [] xref: ZFA:0000122 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0003073\nlabel: lens placode" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003073 [Term] id: EFO:0003495 name: obsolete_mandibular lateral line neuromast property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000125 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000125 [Term] id: EFO:0003496 name: obsolete_olfactory pit synonym: "nasal canal" EXACT [] synonym: "nasal cavity" EXACT [] synonym: "nasal pit" EXACT [] synonym: "olfactory cavity" EXACT [] xref: ZFA:0000130 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0005870\nlabel: olfactory pit" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005870 [Term] id: EFO:0003497 name: obsolete_neural keel def: "An intermediate stage (between the neural plate and neural rod) during the early segmentation period in the morphogenesis of the central nervous system primordium; the keel is roughly triangular shaped in cross section." [] synonym: "presumptive central nervous system" EXACT [] xref: ZFA:0000131 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0007135\nlabel: neural keel" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0007135 [Term] id: EFO:0003498 name: obsolete_neural rod def: "An intermediate stage in the development of the central nervous system present during the segmentation period; the neural rod is roughly cylindrical in shape, forms from the neural keel, and is not yet hollowed out into the neural tube." [] synonym: "presumptive central nervous system" EXACT [] xref: ZFA:0000133 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0005068\nlabel: neural rod" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005068 [Term] id: EFO:0003499 name: obsolete_otic lateral line neuromast property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000136 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000136 [Term] id: EFO:0003500 name: obsolete_rhombomere 8 def: "Hindbrain segment or neuromere." [] synonym: "r8" EXACT [] xref: ZFA:0000153 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0005527\nlabel: rhombomere 8" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005527 [Term] id: EFO:0003501 name: obsolete_tectal ventricle property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0002289 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002289 [Term] id: EFO:0003502 name: obsolete_ventral mesenchyme property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000164 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000164 [Term] id: EFO:0003503 name: obsolete_basibranchial bone namespace: uberon def: "A basibranchial element that is bone. Basibranchial elements are ventral, median, and associated with a single pharyngeal arch in the pharyngeal arch 3-7 skeleton" [] def: "Median elements that are ossified within copulae and are not assigned to a specific branchial arch number. They articulate posterolaterally with the hypobranchials." [] subset: efo_slim synonym: "basibranchial" EXACT [] synonym: "basibranchial bone" EXACT [] synonym: "basibranchial bones" EXACT [] synonym: "basibranchials" EXACT [] synonym: "copula I bone" EXACT [] xref: AAO:0000686 xref: EFO:0003503 xref: TAO:0000170 xref: ZFA:0000170 property_value: axiom_lost_from_external_ontology "relationship loss: develops_from copula (TAO:0001220)[TAO]" xsd:string property_value: axiom_lost_from_external_ontology "relationship loss: part_of hyoid apparatus skeleton (AAO:0000682)[AAO]" xsd:string property_value: axiom_lost_from_external_ontology "relationship loss: subclass basibranchial element (TAO:0001914)[TAO]" xsd:string property_value: external_definition "Medial element to which other parts of the hyoid apparatus are attached.[AAO]" xsd:string property_value: external_definition "Replacement bone that is ventral, median, and associated with a single pharyngeal arch in the pharyngeal arch 3-7 skeleton.[TAO]" xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0004740 [Term] id: EFO:0003504 name: obsolete_branchial muscle property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0000933 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000933 [Term] id: EFO:0003505 name: obsolete_bulbus arteriosus def: "Multi-tissue structure that consists of three layers and through which the blood exits the heart. The bulbus arteriosus is a pear shaped chamber that functions as a capacitor, maintaining continuous blood flow into the gill arches." [] synonym: "cardiac outflow tract" EXACT [] synonym: "outflow tract" EXACT [] synonym: "truncus" EXACT [] xref: ZFA:0000173 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0004152\nlabel: bulbus arteriosus" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0004152 [Term] id: EFO:0003506 name: obsolete_posterior lateral line nerve property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000175 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000175 [Term] id: EFO:0003507 name: obsolete_cleithrum def: "Transversely oriented bone connecting the occipital region of the skull dorsally and pectoral girdle ventrally; appears near the end of embryogenesis." [] synonym: "cleithra" EXACT [] xref: ZFA:0000184 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0004741\nlabel: cleithrum" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0004741 [Term] id: EFO:0003508 name: obsolete_dentary def: "Dermal bone that forms the antero-lateral part of the lower jaw. It first appears around the anterior end of Meckel's cartilage (5.1 mm NL). In the adult, the dentary meets its counterpart anteriorly at the mandibular symphysis. The dentary abuts the retroarticular posteriorly, and it surround the anguloarticular. The dentary is connected to the maxilla by the maxillo-mandibular ligament. Dentary teeth are absent in cypriniforms, but are present in other ostariophysans." [] synonym: "dentary bone" EXACT [] xref: ZFA:0000191 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0004742\nlabel: dentary" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0004742 [Term] id: EFO:0003509 name: obsolete_granular eminence property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000212 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000212 [Term] id: EFO:0003510 name: obsolete_lateral ethmoid property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/ZFA_0000226 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/ZFA_0000226 [Term] id: EFO:0003511 name: obsolete_mandibular muscle property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0011648 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0011648 [Term] id: EFO:0003512 name: obsolete_metapterygoid property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000240 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000240 [Term] id: EFO:0003513 name: obsolete_neuromast def: "Volcano-shaped lateral line sensory organ located in characteristic positions within the skin epithelium and containing hair cells and their support elements. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.)" [] synonym: "lateral line neuromast" EXACT [] synonym: "lateral line organ" EXACT [] synonym: "neuromasts" EXACT [] xref: ZFA:0000243 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0008904\nlabel: neuromast" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0008904 [Term] id: EFO:0003514 name: obsolete_opercle property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000250 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000250 [Term] id: EFO:0003515 name: obsolete_paraxial mesoderm def: "Mesoderm which is lateral to the neural tube on both sides." [] synonym: "paraxial mesenchyme" EXACT [] xref: ZFA:0000255 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0003077\nlabel: paraxial mesoderm" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003077 [Term] id: EFO:0003516 name: obsolete_pectoral fin cartilage property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/ZFA_0000257 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/ZFA_0000257 [Term] id: EFO:0003517 name: obsolete_preopercle property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000264 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000264 [Term] id: EFO:0003518 name: obsolete_hair cell posterior macula property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/ZFA_0000281 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/ZFA_0000281 [Term] id: EFO:0003519 name: obsolete_subopercle property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000284 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000284 [Term] id: EFO:0003520 name: obsolete_medial octavolateralis nucleus property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000291 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000291 [Term] id: EFO:0003521 name: obsolete_torus lateralis property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000294 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000294 [Term] id: EFO:0003522 name: obsolete_ventral telencephalon def: "Brain structure which is the ventral part of the telencephalon and is consists of periventricular nuclei surrounding the unpaired median ventricle and those which have migrated away from the ependyma. From Neuroanatomy of the Zebrafish Brain." [] synonym: "area ventralis telencephali" EXACT [] synonym: "subpallium" EXACT [] xref: ZFA:0000304 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with UBERON_0000204" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000204 [Term] id: EFO:0003523 name: obsolete_E-YSL property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000309 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000309 [Term] id: EFO:0003524 name: obsolete_cephalic musculature synonym: "head muscles" EXACT [] xref: ZFA:0000328 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0002376 label : muscle of head" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002376 [Term] id: EFO:0003525 name: obsolete_olfactory region def: "Anatomical cluster that is located in the anterior region of the cranium and provides structural support for the peripheral olfactory organ." [] synonym: "ethmoid region" EXACT [] xref: ZFA:0000351 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0003112\nlabel: olfactory region" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003112 [Term] id: EFO:0003526 name: obsolete_heart tube def: "Cavitated compound organ that will become the adult heart following looping morphogenesis and valve formation." [] xref: ZFA:0000360 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0004141\nlabel: heart tube" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0004141 [Term] id: EFO:0003527 name: obsolete_pterosphenoid property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000419 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000419 [Term] id: EFO:0003528 name: obsolete_retroarticular property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000422 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000422 [Term] id: EFO:0003529 name: obsolete_anterior lateral line nerve property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000425 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000425 [Term] id: EFO:0003530 name: obsolete_anguloarticular property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0004744 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0004744 [Term] id: EFO:0003531 name: obsolete_trunk musculature property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0001774 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001774 [Term] id: EFO:0003532 name: obsolete_paraventricular organ property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000475 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000475 [Term] id: EFO:0003533 name: obsolete_caudal tuberal nucleus property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000482 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000482 [Term] id: EFO:0003534 name: obsolete_dorsal telencephalon property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0000203 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000203 [Term] id: EFO:0003535 name: obsolete_periventricular grey zone property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000516 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000516 [Term] id: EFO:0003536 name: obsolete_hyoid muscle synonym: "hyoid muscles" EXACT [] xref: ZFA:0000521 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0005493\nlabel: hyoid muscle" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005493 [Term] id: EFO:0003537 name: obsolete_marginal blastomere property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/ZFA_0000541 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/ZFA_0000541 [Term] id: EFO:0003538 name: obsolete_posttemporal property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000549 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000549 [Term] id: EFO:0003539 name: obsolete_otolith organ def: "Cavitated compound organ that is a fluid filed chamber with a maculae on one surface and associated otolith tethered to the maculae.." [] synonym: "otolith organs" EXACT [] xref: ZFA:0000559 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002518\nlabel: otolith organ" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002518 [Term] id: EFO:0003540 name: obsolete_pectoral fin musculature property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/ZFA_0000563 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/ZFA_0000563 [Term] id: EFO:0003541 name: obsolete_optic primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0003071 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003071 [Term] id: EFO:0003542 name: obsolete_prootic property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0004746 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0004746 [Term] id: EFO:0003543 name: obsolete_statoacoustic (VIII) ganglion property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0002827 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002827 [Term] id: EFO:0003544 name: obsolete_torus semicircularis property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000599 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000599 [Term] id: EFO:0003545 name: obsolete_valvula cerebelli property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000603 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000603 [Term] id: EFO:0003546 name: obsolete_vertical myoseptum property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000610 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000610 [Term] id: EFO:0003547 name: obsolete_quadrate property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0006597 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0006597 [Term] id: EFO:0003548 name: obsolete_epihyal property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000627 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000627 [Term] id: EFO:0003549 name: obsolete_caudal tuberculum property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000633 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000633 [Term] id: EFO:0003550 name: obsolete_descending octaval nucleus property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000645 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000645 [Term] id: EFO:0003551 name: obsolete_dorsal fin musculature xref: ZFA:0000648 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_2000648\nLabel: dorsal fin musculature" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000648 [Term] id: EFO:0003552 name: obsolete_ectopterygoid property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0011634 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0011634 [Term] id: EFO:0003553 name: obsolete_entopterygoid property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000657 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000657 [Term] id: EFO:0003554 name: obsolete_gill filament def: "Portion of tissue that projects outward from the gill and is a thread-like, soft, red respiratory and excretory structure." [] synonym: "gill filaments" EXACT [] xref: ZFA:0000667 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0009120\nlabel: gill filament" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0009120 [Term] id: EFO:0003555 name: obsolete_horizontal myoseptum def: "A connective tissue partition developing at the apex of the chevron-shaped myotome and separating dorsal (epaxial) and ventral (hypaxial) body wall muscle masses." [] synonym: "horizontal septum" EXACT [] xref: ZFA:0000671 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0003901 label : horizontal septum" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003901 [Term] id: EFO:0003556 name: obsolete_hyomandibula property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/ZFA_0000672 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/ZFA_0000672 [Term] id: EFO:0003557 name: obsolete_interopercle property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000674 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000674 [Term] id: EFO:0003558 name: obsolete_segmental intercostal artery synonym: "segmental intercostal arteries" EXACT [] xref: ZFA:0000677 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_2000677\nlabel: segmental intercostal artery" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000677 [Term] id: EFO:0003559 name: obsolete_hair cell anterior macula property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/ZFA_0000678 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/ZFA_0000678 [Term] id: EFO:0003560 name: obsolete_symplectic property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000692 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000692 [Term] id: EFO:0003561 name: obsolete_tangential nucleus property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000693 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000693 [Term] id: EFO:0003562 name: obsolete_telencephalic ventricle synonym: "lateral ventricle" EXACT [] synonym: "telencephalic vesicle" EXACT [] xref: NCIt:C12834 xref: ZFA:0000696 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.74" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use UBERON_0002285" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002285 [Term] id: EFO:0003563 name: obsolete_I-YSL property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000712 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000712 [Term] id: EFO:0003564 name: obsolete_somite 14 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000726 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000726 [Term] id: EFO:0003565 name: obsolete_somite 2 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000728 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000728 [Term] id: EFO:0003566 name: obsolete_somite 3 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000732 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000732 [Term] id: EFO:0003567 name: obsolete_basal plate midbrain region def: "Portion of tissue that is dorsolateral to the floor plate and part of the midbrain." [] synonym: "floor plate midbrain" EXACT [] synonym: "floorplate midbrain" EXACT [] xref: ZFA:0000761 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0010285 label : midbrain basal plate" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0010285 [Term] id: EFO:0003568 name: obsolete_floor plate rhombomere 2 def: "Floor plate that is part of the rhombomere 2." [] synonym: "floor plate r2" EXACT [] synonym: "floorplate r2" EXACT [] xref: ZFA:0000763 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0001015 label : musculature" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0005570 label : rhombomere 2 floor plate" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001015 replaced_by: http://purl.obolibrary.org/obo/UBERON_0005570 [Term] id: EFO:0003569 name: obsolete_floor plate rhombomere 5 def: "Floor plate that is part of the rhombomere 5." [] synonym: "floor plate r5" EXACT [] synonym: "floorplate r5" EXACT [] xref: ZFA:0000764 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0005579 label : rhombomere 5 floor plate" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005579 [Term] id: EFO:0003570 name: obsolete_floor plate rhombomere 8 def: "Floor plate that is part of the rhombomere 8." [] synonym: "floor plate r8" EXACT [] synonym: "floorplate r8" EXACT [] xref: ZFA:0000765 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0005588 label : rhombomere 8 floor plate" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005588 [Term] id: EFO:0003571 name: obsolete_spinal cord interneuron property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/ZFA_0000778 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/ZFA_0000778 [Term] id: EFO:0003572 name: obsolete_mesenchyme derived from head neural crest xref: ZFA:0000787 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0007213\nlabel: mesenchyme derived from head neural crest" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0007213 [Term] id: EFO:0003573 name: obsolete_neural crest diencephalon def: "Cranial neural crest that is part of the diencephalon." [] synonym: "diencephalic neural crest" EXACT [] xref: ZFA:0000811 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0003851 label : diencephalon neural crest" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003851 [Term] id: EFO:0003574 name: obsolete_neural crest telencephalon def: "Cranial neural crest that is part of the telencephalon." [] xref: ZFA:0000812 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0003850 label : telencephalon neural crest" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003850 [Term] id: EFO:0003575 name: obsolete_infraorbital lateral line neuromast property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000813 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000813 [Term] id: EFO:0003576 name: obsolete_opercular lateral line neuromast property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000814 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000814 [Term] id: EFO:0003577 name: obsolete_nucleus of the medial longitudinal fasciculus medulla oblongata xref: ZFA:0000815 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_2000815 label : nucleus of medial longitudinal fasciculus of medulla" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000815 [Term] id: EFO:0003578 name: obsolete_primary neuron hindbrain property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/ZFA_0000821 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/ZFA_0000821 [Term] id: EFO:0003579 name: obsolete_rhombomere 2 def: "Hindbrain segment or neuromere." [] synonym: "r2" EXACT [] xref: ZFA:0000822 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0005569\nlabel: rhombomere 2" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005569 [Term] id: EFO:0003580 name: obsolete_rhombomere 5 def: "Hindbrain segment or neuromere." [] synonym: "r5" EXACT [] xref: ZFA:0000823 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0005515\nlabel: rhombomere 5" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005515 [Term] id: EFO:0003581 name: obsolete_slow muscle cell somite 14 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/ZFA_0000841 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/ZFA_0000841 [Term] id: EFO:0003582 name: obsolete_somite 12 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000851 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000851 [Term] id: EFO:0003583 name: obsolete_somite 4 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000857 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000857 [Term] id: EFO:0003584 name: obsolete_floor plate rhombomere 1 def: "Floor plate that is part of the rhombomere 1." [] synonym: "floor plate r1" EXACT [] xref: ZFA:0000882 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0005566 label : rhombomere 1 floor plate" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005566 [Term] id: EFO:0003585 name: obsolete_floor plate neural rod property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000887 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000887 [Term] id: EFO:0003586 name: obsolete_floor plate rhombomere 3 def: "Floor plate that is part of the rhombomere 3." [] synonym: "floor plate r3" EXACT [] synonym: "floorplate r3" EXACT [] xref: ZFA:0000888 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0005573 label : rhombomere 3 floor plate" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005573 [Term] id: EFO:0003587 name: obsolete_floor plate rhombomere 6 def: "Floor plate that is part of the rhombomere 6." [] synonym: "floor plate r6" EXACT [] synonym: "floorplate r6" EXACT [] xref: ZFA:0000889 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0005582 label : rhombomere 6 floor plate" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005582 [Term] id: EFO:0003588 name: obsolete_floor plate rhombomere 4 def: "Floor plate that is part of the rhombomere 4." [] synonym: "floor plate r4" EXACT [] synonym: "floorplate r4" EXACT [] xref: ZFA:0000893 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0005576 label : rhombomere 4 floor plate" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005576 [Term] id: EFO:0003589 name: obsolete_floor plate rhombomere 7 def: "Floor plate that is part of the rhombomere 7." [] synonym: "floor plate r7" EXACT [] synonym: "floorplate r7" EXACT [] xref: ZFA:0000904 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0005585 label : rhombomere 7 floor plate" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005585 [Term] id: EFO:0003590 name: obsolete_lateral mesenchyme derived from mesoderm xref: ZFA:0000905 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0007683\nlabel: lateral mesenchyme derived from mesoderm" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0007683 [Term] id: EFO:0003591 name: obsolete_neural crest midbrain def: "Neural crest that is part of the midbrain." [] synonym: "mesencephalic neural crest" EXACT [] xref: ZFA:0000935 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0003849 label : mesencephalic neural crest" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003849 [Term] id: EFO:0003592 name: obsolete_middle lateral line neuromast def: "Neuromast that is part of the middle lateral line. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.)" [] synonym: "neuromast middle" EXACT [] synonym: "neuromasts middle" EXACT [] xref: ZFA:0000939 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_2000939\nlabel: middle lateral line neuromast" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000939 [Term] id: EFO:0003593 name: obsolete_posterior lateral line neuromast property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000940 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000940 [Term] id: EFO:0003594 name: obsolete_pectoral fin skeleton def: "Skeleton that consists of the supporting endochondral proximal and distal radials and the dermal fins rays or lepidotrichia. The pectoral fin skeleton is located in the thoracic region of the body and articulates with the scapula and coracoid." [] xref: ZFA:0000943 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0010710\nlabel: pectoral fin skeleton" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0010710 [Term] id: EFO:0003595 name: obsolete_posterior lateral line def: "One of eight distinct lateral lines in the 4-day larva. A sensory system on the surface of the fish, consisting of small sensory patches (neuromasts) distributed in discrete lines over the body surface. The lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance. (See Anatomical Atlas entry for lateral line by T. Whitfield.)" [] synonym: "pll" EXACT [] xref: ZFA:0000944 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0006334\nlabel: posterior lateral line" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0006334 [Term] id: EFO:0003596 name: obsolete_rhombomere 3 def: "Hindbrain segment or neuromere." [] synonym: "r3" EXACT [] xref: ZFA:0000948 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0005507\nlabel: rhombomere 3" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005507 [Term] id: EFO:0003597 name: obsolete_rhombomere 7 def: "Hindbrain segment or neuromere." [] synonym: "r7" EXACT [] xref: ZFA:0000949 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0005523\nlabeel: rhombomere 7" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005523 [Term] id: EFO:0003598 name: obsolete_slow muscle cell somite 1 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/ZFA_0000963 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/ZFA_0000963 [Term] id: EFO:0003599 name: obsolete_slow muscle cell somite 4 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/ZFA_0000972 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/ZFA_0000972 [Term] id: EFO:0003600 name: obsolete_slow muscle cell somite 7 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/ZFA_0000973 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/ZFA_0000973 [Term] id: EFO:0003601 name: obsolete_somite 13 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2000975 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2000975 [Term] id: EFO:0003602 name: obsolete_lateral wall spinal cord xref: ZFA:0000996 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0009582 label : spinal cord lateral wall" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0009582 [Term] id: EFO:0003603 name: obsolete_mesenchyme derived from head mesoderm property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0006904 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0006904 [Term] id: EFO:0003604 name: obsolete_mesenchyme pectoral fin synonym: "mesenchyme pectoral fins" EXACT [] xref: ZFA:0001000 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0003934\nlabel: mesenchyme pectoral fin" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003934 [Term] id: EFO:0003605 name: obsolete_trunk neural crest xref: ZFA:0001024 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0003083\nlabel: trunk neural crest" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003083 [Term] id: EFO:0003606 name: obsolete_occipital lateral line neuromast def: "Neuromast that is part of the occipital lateral line. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.)" [] synonym: "neuromast occipital" EXACT [] synonym: "neuromasts occipital" EXACT [] xref: ZFA:0001025 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_2001025\nlabel: occipital lateral line neuromast" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001025 [Term] id: EFO:0003607 name: obsolete_supraorbital lateral line neuromast def: "Neuromast that is part of the supraorbital lateral line. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.)" [] synonym: "neuromast supraorbital" EXACT [] synonym: "neuromasts supraorbital" EXACT [] xref: ZFA:0001026 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_2001026\nlabel: supraorbital lateral line neuromast" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001026 [Term] id: EFO:0003608 name: obsolete_rhombomere 1 def: "Hindbrain segment or neuromere." [] synonym: "r1" EXACT [] xref: ZFA:0001031 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0005499\nlabel: rhombomere 1" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005499 [Term] id: EFO:0003609 name: obsolete_rhombomere 4 def: "Hindbrain segment or neuromere." [] synonym: "r4" EXACT [] xref: ZFA:0001032 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0005511\nlabel: rhombomere 4" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005511 [Term] id: EFO:0003610 name: obsolete_slow muscle cell somite 10 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/ZFA_0001047 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/ZFA_0001047 [Term] id: EFO:0003611 name: obsolete_caudal division of the internal carotid artery property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001051 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001051 [Term] id: EFO:0003612 name: obsolete_primitive internal carotid artery property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001053 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001053 [Term] id: EFO:0003613 name: obsolete_lateral dorsal aorta property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001054 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001054 [Term] id: EFO:0003614 name: obsolete_cranial division of the internal carotid artery property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001059 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001059 [Term] id: EFO:0003615 name: obsolete_primitive mesencephalic artery def: "Branches dorsally from the cranial division of the internal carotid artery, then curves caudally along the dorsal medial wall of the eye capsule to drain into the PMBC just rostral to the midbrain hindbrain boundary" [] synonym: "PMsA" EXACT [] xref: ZFA:0001062 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_2001062\nlabel: primitive mesencephalic artery" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001062 [Term] id: EFO:0003616 name: obsolete_posterior caudal vein property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001063 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001063 [Term] id: EFO:0003617 name: obsolete_rhombomere def: "A segment of the developing hindbrain." [] synonym: "hindbrain segment" EXACT [] synonym: "neuromere" EXACT [] synonym: "rhombomeres" EXACT [] xref: ZFA:0001064 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001892\nlabel: rhombomere" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001892 [Term] id: EFO:0003618 name: obsolete_neural arch def: "A neural arch encloses the neural canal and typically meets its partner to form a neural spine. The neural arch can be a replacement ossification of the basidorsal cartilage or can form directly in membrane bone." [] synonym: "dorsal arcocentrum" EXACT [] xref: ZFA:0001066 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0003861\nlabel: neural arch" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003861 [Term] id: EFO:0003619 name: obsolete_presumptive pronephric mesoderm synonym: "nephron primordium" EXACT [] xref: ZFA:0001070 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0007297\nlabel: presumptive pronephric mesoderm" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0007297 [Term] id: EFO:0003620 name: obsolete_axial vasculature property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001073 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001073 [Term] id: EFO:0003621 name: obsolete_intestinal bulb property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001076 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001076 [Term] id: EFO:0003622 name: obsolete_thymus primordium def: "A small outgrowth of the pharyngeal epithelium that is the site of lymphocyte cell production." [] synonym: "thymic rudiment" EXACT [] xref: ZFA:0001077 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0005562\nlabel: thymus primodium" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005562 [Term] id: EFO:0003623 name: obsolete_chordo neural hinge def: "Portion of tissue that is posterior to the developing notochord during tail bud extension." [] xref: ZFA:0001082 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0007097\nlabel: chordo neural hinge" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0007097 [Term] id: EFO:0003624 name: obsolete_ventricular zone def: "Proliferative region that is part of the ventricular system." [] synonym: "ventricular zones" EXACT [] xref: ZFA:0001083 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0003053\nlabel: ventricular zone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003053 [Term] id: EFO:0003625 name: obsolete_myoseptum property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001089 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001089 [Term] id: EFO:0003626 name: obsolete_pharyngeal endoderm property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/ZFA_0001104 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/ZFA_0001104 [Term] id: EFO:0003627 name: obsolete_pharyngeal pouch def: "Outpocketings of pharyngeal endoderm that interdigitate with the neural crest derived pharyngeal arches. The pouches later fuse with the surface ectoderm to form the gill slits." [] synonym: "pharyngeal pouches" EXACT [] xref: ZFA:0001106 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0004117\nlabel: pharyngeal pouch" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0004117 [Term] id: EFO:0003628 name: obsolete_granulosa cell layer property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0005170 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005170 [Term] id: EFO:0003629 name: obsolete_thecal cell layer synonym: "thecal cell layers" EXACT [] xref: ZFA:0001113 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0000155 label : theca cell layer" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000155 [Term] id: EFO:0003630 name: obsolete_urogenital papilla property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001118 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001118 [Term] id: EFO:0003631 name: obsolete_pharyngeal pouch 1 synonym: "pharyngeal pouches 1" EXACT [] xref: ZFA:0001128 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0007122\nlabel: pharyngeal pouch 1" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0007122 [Term] id: EFO:0003632 name: obsolete_pharyngeal pouches 2-6 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001129 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001129 [Term] id: EFO:0003633 name: obsolete_pharyngeal pouch 2 synonym: "pharyngeal pouches 2" EXACT [] xref: ZFA:0001130 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0007123\nlabel: pharyngeal pouch 2" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0007123 [Term] id: EFO:0003634 name: obsolete_pharyngeal pouch 3 synonym: "pharyngeal pouches 3" EXACT [] xref: ZFA:0001131 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0007124\nlabel: pharyngeal pouch 3" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0007124 [Term] id: EFO:0003635 name: obsolete_pharyngeal pouch 6 synonym: "pharyngeal pouches 6" EXACT [] xref: ZFA:0001132 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0007127\nlabe: pharyngeal pouch 6" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0007127 [Term] id: EFO:0003636 name: obsolete_pharyngeal pouch 5 synonym: "pharyngeal pouches 5" EXACT [] xref: ZFA:0001133 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0007126\nlabel: pharyngeal pouch 5" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0007126 [Term] id: EFO:0003637 name: obsolete_pharyngeal pouch 4 synonym: "pharyngeal pouches 4" EXACT [] xref: ZFA:0001134 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0007125\nlabel: pharyngeal pouch 4" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0007125 [Term] id: EFO:0003638 name: obsolete_tooth 5V property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001142 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001142 [Term] id: EFO:0003639 name: obsolete_tooth 4V property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001143 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001143 [Term] id: EFO:0003640 name: obsolete_tooth 3V property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001145 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001145 [Term] id: EFO:0003641 name: obsolete_posterior lateral line primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001157 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001157 [Term] id: EFO:0003642 name: obsolete_anal fin property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_4000163 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_4000163 [Term] id: EFO:0003643 name: obsolete_non neural ectoderm synonym: "ventral ectoderm" EXACT [] xref: ZFA:0001178 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0005497 label : non-neural ectoderm" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005497 [Term] id: EFO:0003644 name: obsolete_pelvic fin synonym: "pelvic fins" EXACT [] xref: ZFA:0001184 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000152\nlabel: pelvic fin" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000152 [Term] id: EFO:0003645 name: obsolete_cranial neural crest def: "Neural crest that is part of the head." [] xref: ZFA:0001194 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0003099\nlabel: cranial neural crest" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003099 [Term] id: EFO:0003646 name: obsolete_corpuscles of Stannius property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001200 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001200 [Term] id: EFO:0003647 name: obsolete_axial mesoderm xref: ZFA:0001204 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0003068\nlabel: axial mesoderm" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003068 [Term] id: EFO:0003648 name: obsolete_epibranchial 5 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/ZFA_0001244 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/ZFA_0001244 [Term] id: EFO:0003649 name: obsolete_lateral floor plate property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001256 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001256 [Term] id: EFO:0003650 name: obsolete_ventricular system property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0005281 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005281 [Term] id: EFO:0003651 name: obsolete_gonad primordium def: "Portion of tissue that gives rise to the immature gonad." [] synonym: "gonadal primordium" EXACT [] synonym: "undifferentiated gonad" EXACT [] xref: ZFA:0001262 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0005564\nlabel: gonad primordium" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005564 [Term] id: EFO:0003652 name: obsolete_ovarian follicle stage I property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001263 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001263 [Term] id: EFO:0003653 name: obsolete_ovarian follicle stage IV def: "Stage IV (690-730 microns) are oocyte maturation." [] synonym: "mature ovarian follicle" EXACT [] xref: ZFA:0001264 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0003982 label : mature ovarian follicle" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003982 [Term] id: EFO:0003654 name: obsolete_ovarian follicle stage II property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001265 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001265 [Term] id: EFO:0003655 name: obsolete_ovarian follicle stage III property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001266 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001266 [Term] id: EFO:0003656 name: obsolete_cranial vasculature property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0002200 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002200 [Term] id: EFO:0003657 name: obsolete_regenerating fin property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/ZFA_0001269 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/ZFA_0001269 [Term] id: EFO:0003658 name: obsolete_blastema def: "A regenerating tissue composed of a proliferative mass of undifferentiated progenitor cells from which new differentiated structures arise." [] synonym: "regeneration blastema" EXACT [] xref: ZFA:0001270 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0005306\nlabel: blastema" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005306 [Term] id: EFO:0003659 name: obsolete_palatoquadrate arch def: "The dorsal portion of the first pharyngeal arch, comprising the upper jaw." [] synonym: "dorsal mandibular arch" EXACT [] synonym: "dorsal visceral arch 1" EXACT [] synonym: "upper jaw" EXACT [] synonym: "upper pharyngeal jaw" EXACT [] xref: ZFA:0001272 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0011085\nlabel: palatoquadrate arch" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0011085 [Term] id: EFO:0003660 name: obsolete_ventral mandibular arch property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/ZFA_0001273 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/ZFA_0001273 [Term] id: EFO:0003661 name: obsolete_branchiostegal ray 1 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001279 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001279 [Term] id: EFO:0003662 name: obsolete_branchiostegal ray 3 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001280 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001280 [Term] id: EFO:0003663 name: obsolete_branchiostegal ray 2 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001281 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001281 [Term] id: EFO:0003664 name: obsolete_intersegmental vessel property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0014907 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0014907 [Term] id: EFO:0003665 name: obsolete_caudal vein plexus property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001286 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001286 [Term] id: EFO:0003666 name: obsolete_renal tubule def: "Renal duct that collects filtrate from the renal corpuscle and transports it to the collecting duct. Different parts of the renal tubule reabsorb specific components of the filtrate to leave only waste." [] synonym: "mesonephric tubule" EXACT [] synonym: "renal tubules" EXACT [] xref: ZFA:0001287 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0001231 label : nephron tubule" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001231 [Term] id: EFO:0003667 name: obsolete_renal glomerulus def: "The multi-tissue structure where the glomerular basement membrane supported by mesonephric podocytes, filters blood from the glomerular capillaries." [] synonym: "glomerular capillary tuft" EXACT [] synonym: "renal glomeruli" EXACT [] xref: ZFA:0001288 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0000074\nlabel: renal glomerulus" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000074 [Term] id: EFO:0003668 name: obsolete_ciliary marginal zone def: "Proliferative region at the periphery of the retina where retinal stem cells are located. After 60 hpf, the CMZ is the source of most retinal growth." [] synonym: "circumferential germinal zone" EXACT [] synonym: "CMZ" EXACT [] synonym: "peripheral growth zone" EXACT [] synonym: "retinal ciliary marginal zone" EXACT [] xref: ZFA:0001289 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0003065\nlabel: ciliary marginal zone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003065 [Term] id: EFO:0003669 name: obsolete_facial ganglion def: "The sensory ganglion of the facial nerve." [] synonym: "geniculate ganglion" EXACT [] synonym: "gVII" EXACT [] xref: ZFA:0001291 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0001700 label : geniculate ganglion" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001700 [Term] id: EFO:0003670 name: obsolete_vagal ganglion 1 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001302 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001302 [Term] id: EFO:0003671 name: obsolete_vagal ganglion 2 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001303 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001303 [Term] id: EFO:0003672 name: obsolete_vagal ganglion 3 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001304 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001304 [Term] id: EFO:0003673 name: obsolete_vagal ganglion 4 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001305 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001305 [Term] id: EFO:0003674 name: obsolete_dorsal anterior lateral line ganglion synonym: "anterodorsal lateral line ganglion" EXACT [] xref: ZFA:0001312 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use: http://purl.obolibrary.org/obo/UBERON_2001312\nlabel: dorsal anterior lateral line ganglion" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001312 [Term] id: EFO:0003675 name: obsolete_ventral anterior lateral line ganglion property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001313 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001313 [Term] id: EFO:0003676 name: obsolete_posterior lateral line ganglion property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001314 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001314 [Term] id: EFO:0003677 name: obsolete_neurocranial trabecula synonym: "neurocranial trabeculae" EXACT [] synonym: "trabecula" EXACT [] synonym: "trabecular cartilage" EXACT [] xref: ZFA:0001321 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0005945\nlabel: neurocranial trabecula" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0005945 [Term] id: EFO:0003678 name: obsolete_terminal nerve def: "The terminal nerve, located anterior to cranial nerve I, is comprised of a group of cells with somata adjacent to the olfactory bulb and processes that extend anteriorly to the olfactory epithelium and posteriorly to the telencephalon. In teleost fish an additional group of axons extends along the optic tract and delivers putative neuromodulators to the retina. It is thought to develop from cranial neural crest." [] synonym: "nervus terminalis" EXACT [] xref: ZFA:0001356 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002924\nlabel: terminal nerve" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002924 [Term] id: EFO:0003679 name: obsolete_pineal complex property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0015238 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0015238 [Term] id: EFO:0003680 name: obsolete_axial hypoblast property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001378 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001378 [Term] id: EFO:0003681 name: obsolete_apical ectodermal ridge pelvic fin bud property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/ZFA_0001385 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/ZFA_0001385 [Term] id: EFO:0003682 name: obsolete_regeneration epithelium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/ZFA_0001389 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/ZFA_0001389 [Term] id: EFO:0003683 name: obsolete_anterior lateral line ganglion property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001391 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001391 [Term] id: EFO:0003684 name: obsolete_ventral hyoid arch property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0011153 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0011153 [Term] id: EFO:0003685 name: obsolete_ethmoid cartilage def: "Bilaterally paired neurocranium cartilage which is initially plate-like and formed from the anterior fusion between the bilaterally paired trabecula cranii. It grows dorsally between the laminae orbitonasales to attain a complex shape." [] synonym: "ethmoid plate" EXACT [] xref: ZFA:0001405 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0011242\nlabel: ethmoid cartilage" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0011242 [Term] id: EFO:0003686 name: obsolete_hyosymplectic cartilage def: "Bilaterally paired large cartilage that articulates with the chondrocranium dorsally, the opercle posteriorly, and the palatoquadrate cartilage anteriorly." [] synonym: "hyomandibular cartilage" EXACT [] xref: ZFA:0001422 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0011607 label : hyomandibular cartilage" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0011607 [Term] id: EFO:0003687 name: obsolete_primitive olfactory epithelium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001431 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001431 [Term] id: EFO:0003688 name: obsolete_floor plate neural tube property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0003306 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003306 [Term] id: EFO:0003689 name: obsolete_pharyngeal arch cartilage synonym: "pharyngeal arch cartilages" EXACT [] synonym: "splanchnocranium cartilage" EXACT [] xref: ZFA:0001460 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0011004\nlabel: pharyngeal arch cartilage" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0011004 [Term] id: EFO:0003690 name: obsolete_chondrocranium cartilage synonym: "neurocranium cartilage" EXACT [] xref: ZFA:0001461 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.61" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : http://purl.obolibrary.org/obo/UBERON_0003932 label : cartilage element of chondrocranium" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003932 [Term] id: EFO:0003691 name: obsolete_anterior lateral line system property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001468 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001468 [Term] id: EFO:0003692 name: obsolete_posterior lateral line system property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2001471 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2001471 [Term] id: EFO:0003693 name: obsolete_superficial blastomere property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/ZFA_0001484 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/ZFA_0001484 [Term] id: EFO:0003694 name: obsolete_pharyngeal arch 3-7 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0008896 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0008896 [Term] id: EFO:0003695 name: obsolete_aortic arch def: "Artery that is part of the pharyngeal arches." [] synonym: "aortic arches" EXACT [] synonym: "branchial aortic arches" EXACT [] xref: ZFA:0005004 property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0002526 xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0004363\nlabel: aortic arch" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0004363 [Term] id: EFO:0003696 name: obsolete_mid cerebral vein property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2005010 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2005010 [Term] id: EFO:0003697 name: obsolete_primordial midbrain channel property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2005017 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2005017 [Term] id: EFO:0003698 name: obsolete_dorsal longitudinal anastomotic vessel property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2005025 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2005025 [Term] id: EFO:0003699 name: obsolete_ventral wall of dorsal aorta property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0018549 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0018549 [Term] id: EFO:0003700 name: obsolete_rostral blood island property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2005029 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2005029 [Term] id: EFO:0003701 name: obsolete_parachordal vessel property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2005034 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2005034 [Term] id: EFO:0003702 name: obsolete_anterior lateral mesoderm property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2005039 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2005039 [Term] id: EFO:0003703 name: obsolete_posterior lateral mesoderm property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/ZFA_0005040 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/ZFA_0005040 [Term] id: EFO:0003704 name: obsolete_anterior lateral plate mesoderm synonym: "ALPM" EXACT [] xref: ZFA:0005041 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0009881\nlabel: anterior lateral plate mesoderm" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0009881 [Term] id: EFO:0003705 name: obsolete_posterior lateral plate mesoderm synonym: "PLPM" EXACT [] xref: ZFA:0005042 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0009910\nlabel: posterior lateral plate mesoderm" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0009910 [Term] id: EFO:0003706 name: obsolete_trabecular layer property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0004124 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0004124 [Term] id: EFO:0003707 name: obsolete_atrioventricular ring property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2005073 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2005073 [Term] id: EFO:0003708 name: obsolete_primordial vasculature property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0014903 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0014903 [Term] id: EFO:0003709 name: obsolete_vascular cord def: "The primordial vasculature that will develop into blood vessels by the process of tubulogenesis. The vascular cord is composed of angioblast or vascular endothelial cells in a solid linear mass called a cord. The cord then undergoes tubulogenesis to form the lumen of the vessels." [] xref: ZFA:0005077 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.39" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0006965\nlabel: vascular cord" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0006965 [Term] id: EFO:0003710 name: obsolete_anterior lateral line primordium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_2005117 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_2005117 [Term] id: EFO:0003711 name: obsolete_Rohon-Beard neuron property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/ZFA_0009150 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/ZFA_0009150 [Term] id: EFO:0003712 name: obsolete_liver (Bos taurus) property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002107\nlabel: liver" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002107 [Term] id: EFO:0003713 name: obsolete_liver (Gallus gallus) property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002107\nlabel: liver" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002107 [Term] id: EFO:0003714 name: obsolete_liver (Homo sapiens) property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002107\nlabel: liver" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002107 [Term] id: EFO:0003715 name: obsolete_liver (Macaca fascicularis) property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002107\nlabel; liver" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002107 [Term] id: EFO:0003716 name: obsolete_liver (Macaca mulatta) property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002107\nlabel: liver" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002107 [Term] id: EFO:0003717 name: obsolete_liver (Mus musculus) property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002107\nlabel: liver" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002107 [Term] id: EFO:0003718 name: obsolete_liver (Pan troglodytes) property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002107\nlabel: liver" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002107 [Term] id: EFO:0003719 name: obsolete_liver (Pongo pygmaeus) property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002107\nlabel: liver" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002107 [Term] id: EFO:0003720 name: obsolete_liver (Rattus norvegicus) property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002107\nlabel: liver" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002107 [Term] id: EFO:0003721 name: obsolete_liver (Rattus rattus) property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002107\nlabel: liver" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002107 [Term] id: EFO:0003722 name: obsolete_kidney (Bos taurus) property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002113\nlabel: kidney" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002113 [Term] id: EFO:0003723 name: obsolete_kidney (Homo sapiens) property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002113\nlabel: kidney" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002113 [Term] id: EFO:0003724 name: obsolete_kidney (Mus musculus) property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "\\Use http://purl.obolibrary.org/obo/UBERON_0002113\nlabel: kidney" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002113 [Term] id: EFO:0003725 name: obsolete_kidney (Pan troglodytes) property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002113\nlabel: kidney" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002113 [Term] id: EFO:0003726 name: obsolete_kidney (Pongon pygmaeus) property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002113\nlabel: kidney" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002113 [Term] id: EFO:0003727 name: obsolete_kidney (Rattus norvegicus) property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002113\nlabel: kidney" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002113 [Term] id: EFO:0003728 name: obsolete_kidney (Rattus rattus) property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0002113\nlabel: kidney" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002113 [Term] id: EFO:0003729 name: obsolete_lung (Bos taurus) property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002048\nlabel: lung" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002048 [Term] id: EFO:0003730 name: obsolete_lung (Gallus gallus) property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002048\nlabel: lung" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002048 [Term] id: EFO:0003731 name: obsolete_lung (Homo sapiens) property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002048\nlabel: lung" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002048 [Term] id: EFO:0003732 name: obsolete_lung (Macaca fascicularis) property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002048\nlabel: lung" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002048 [Term] id: EFO:0003733 name: obsolete_lung (Mus musculus) property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002048\nlabel: lung" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002048 [Term] id: EFO:0003734 name: obsolete_lung (Rattus norvegicus) property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002048\nlabel: lung" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002048 [Term] id: EFO:0003735 name: obsolete_lung (Rattus rattus) property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002048\nlabel: lung" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002048 [Term] id: EFO:0003736 name: obsolete_lung (Sus scrofa) property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002048\nlabel: lung" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002048 [Term] id: EFO:0003737 name: RNA-seq of non coding RNA def: "An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, to analyse these and/or to quantitate transcript abundance" [] is_a: EFO:0002770 ! transcription profiling by high throughput sequencing property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0003738 name: RNA-seq of coding RNA def: "An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance" [] is_a: EFO:0002770 ! transcription profiling by high throughput sequencing property_value: IAO:0000117 "Functional Genomics Production team" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0003739 name: sequencer is_a: EFO:0000548 ! instrument [Term] id: EFO:0003740 name: assay by sequencer def: "An assay that exploits a sequencer as the instrument to find results." [] synonym: "sequencing assay" EXACT [] is_a: EFO:0002773 ! assay by instrument intersection_of: OBI:0000070 ! assay intersection_of: RO:0000057 EFO:0003739 ! has_participant sequencer property_value: ArrayExpress:label "Sequencing assay" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0003741 name: pooled clone sequencing def: "An assay in which DNA is the input molecule derived from pooled clones (for example BACs and Fosmids) is sequenced using high throughput technology using shotgun methodology." [] synonym: "clone array pooled shotgun sequencing" EXACT [] is_a: EFO:0001456 ! DNA assay is_a: EFO:0002697 ! assay by high throughput sequencer relationship: RO:0000057 EFO:0002699 ! has_participant high throughput sequencer property_value: ArrayExpress:label "Pooled clone sequencing" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: SRA:label "POOLCLONE (Shotgun of pooled clones (usually BACs and Fosmids))" xsd:string [Term] id: EFO:0003742 name: clone by clone sequencing def: "An assay in which DNA is the input molecule derived from clones which are mapped then sequenced in small fragments." [] synonym: "heirarchical clone based sequencing" EXACT [] is_a: EFO:0001456 ! DNA assay is_a: EFO:0003740 ! assay by sequencer relationship: RO:0000057 EFO:0003739 ! has_participant sequencer property_value: ArrayExpress:label "Clone by clone sequencing" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: SRA:label "genomic clone based sequencing" xsd:string [Term] id: EFO:0003743 name: clone end sequencing def: "An assay in which DNA is the input molecule derived from a clone and 5',3' or both ends of a clone are sequenced" [] synonym: "3' end sequencing" EXACT [] synonym: "5' end sequencing" EXACT [] synonym: "directed end sequencing" EXACT [] is_a: EFO:0001456 ! DNA assay is_a: EFO:0003740 ! assay by sequencer relationship: RO:0000057 EFO:0003739 ! has_participant sequencer property_value: ArrayExpress:label "Clone end sequencing" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0003744 name: whole genome shotgun sequencing def: "An assay in which DNA is the input molecule derived from fragmented whole genome preparation is sequenced" [] synonym: "WGSS" EXACT [] is_a: EFO:0001456 ! DNA assay is_a: EFO:0003740 ! assay by sequencer relationship: RO:0000057 EFO:0003739 ! has_participant sequencer property_value: ArrayExpress:label "WGS sequencing" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: SRA:label "WGS (Random sequencing of the whole genome)" xsd:string [Term] id: EFO:0003745 name: random chromosome sequencing def: "An assay in which DNA is the input molecule derived from chromosome or other replicon is sequenced. The random part refers to the fact the sequence can not be reliably ordered within the known chromosome." [] synonym: "WCS" EXACT [] is_a: EFO:0001456 ! DNA assay is_a: EFO:0003740 ! assay by sequencer relationship: RO:0000057 EFO:0003739 ! has_participant sequencer property_value: ArrayExpress:label "Random chromosome sequencing" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0003746 name: random exon sequencing def: "An assay in which DNA is the input molecule derived from exons is sequenced." [] synonym: "WXS" EXACT [] is_a: EFO:0001456 ! DNA assay is_a: EFO:0003740 ! assay by sequencer relationship: RO:0000057 EFO:0003739 ! has_participant sequencer property_value: ArrayExpress:label "Random exon sequencing" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: SRA:label "WXS (Random sequencing of exonic regions selected from the genome)" xsd:string [Term] id: EFO:0003747 name: amplicon sequencing def: "An assay in which a DNA or RNA input molecule amplified by PCR is sequenced." [] is_a: EFO:0002772 ! assay by molecule is_a: EFO:0003740 ! assay by sequencer relationship: RO:0000057 EFO:0003739 ! has_participant sequencer property_value: ArrayExpress:label "Amplicon sequencing" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: SRA:label "AMPLICON (Sequencing of overlapping or distinct PCR or RT-PCR products)" xsd:string [Term] id: EFO:0003748 name: MRE-seq def: "An assay in which DNA us the input molecule derived from cleavage of DNA by use of methylation sensitive restriction enzymes to fragment DNA at methylation sites before sequencing" [] synonym: "Methylation-Sensitive Restriction Enzyme sequencing" EXACT [] is_a: EFO:0001456 ! DNA assay is_a: EFO:0003740 ! assay by sequencer relationship: RO:0000057 EFO:0003739 ! has_participant sequencer property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: SRA:label "MRE-Seq (Methylation-Sensitive Restriction Enzyme Sequencing strategy)" xsd:string [Term] id: EFO:0003749 name: MeDIP-seq def: "An assay in which DNA is the input molecule derived from an antibody based selection process using antibodies targeting methylated DNA, which is then sequenced using high throughput sequencing technology." [] synonym: "Methylated DNA Immunoprecipitation sequencing" EXACT [] is_a: EFO:0001456 ! DNA assay is_a: EFO:0002697 ! assay by high throughput sequencer relationship: RO:0000057 EFO:0002699 ! has_participant high throughput sequencer property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: SRA:label "MeDIP-Seq (Methylated DNA Immunoprecipitation Sequencing strategy)" xsd:string [Term] id: EFO:0003750 name: MBD-seq def: "An assay in which DNA is the input molecule derived from a selection process using methyl binding domain protein to enrich for methylated fractions of DNA, then sequenced using high throughput sequencing." [] synonym: "methyl binding domain sequencing" EXACT [] is_a: EFO:0001456 ! DNA assay is_a: EFO:0002697 ! assay by high throughput sequencer relationship: RO:0000057 EFO:0002699 ! has_participant high throughput sequencer property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: SRA:label "MBD-Seq (Direct sequencing of methylated fractions sequencing strategy)" xsd:string [Term] id: EFO:0003751 name: MNase-seq def: "An assay in which DNA is the input molecule derived from a micrococcal nuclease digestion followed by high throughput sequencing, A method that distinguishes nucleosome positioning based on the ability of nucleosomes to protect associated DNA from digestion by micrococcal nuclease. Sequenced fragments reveal nucleosome location information about the input DNA." [] is_a: EFO:0001456 ! DNA assay is_a: EFO:0003740 ! assay by sequencer relationship: RO:0000057 EFO:0003739 ! has_participant sequencer property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: SRA:label "MNase-Seq (Direct sequencing following MNase digestion)" xsd:string [Term] id: EFO:0003752 name: DNase-hypersensitivity seq def: "An assay in which DNA is the input molecule derived from a DNase-hypersensitivity digest of chromatin with the aim of identifying regulatory elements." [] synonym: "DNase I hypersensitive sites sequencing" EXACT [] synonym: "DNase-Seq" EXACT [] synonym: "DNaseI-Seq" EXACT [] xref: PMID:18243105 xref: PMID:19305407 xref: Wikipedia:DNase-Seq is_a: EFO:0001456 ! DNA assay is_a: EFO:0003740 ! assay by sequencer relationship: RO:0000057 EFO:0003739 ! has_participant sequencer property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: SRA:label "DNase-Hypersensitivity (Sequencing of hypersensitive sites, or segments of open chromatin that are more readily cleaved by DNaseI)" xsd:string [Term] id: EFO:0003753 name: Bisulfite-seq def: "An assay in which DNA is the input molecule derived from a bisulphite treatment of DNA to convert cytosine residues to uracil to determine methylation status." [] is_a: EFO:0001456 ! DNA assay is_a: EFO:0003740 ! assay by sequencer relationship: RO:0000057 EFO:0003739 ! has_participant sequencer property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: SRA:label "Bisulfite-Seq (Sequencing following treatment of DNA with bisulfite to\nconvert cytosine residues to uracil depending on methylation status)" xsd:string [Term] id: EFO:0003754 name: EST sequencing def: "An assay in which RNA derived from an EST is sequenced" [] is_a: EFO:0001457 ! RNA assay is_a: EFO:0003740 ! assay by sequencer relationship: RO:0000057 EFO:0003739 ! has_participant sequencer property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: SRA:label "EST (Single pass sequencing of cDNA templates)" xsd:string [Term] id: EFO:0003755 name: FL-cDNA def: "An assay in which RNA derived from a full length cDNA template is sequenced" [] synonym: "full length cDNA sequencing" EXACT [] is_a: EFO:0001457 ! RNA assay is_a: EFO:0003740 ! assay by sequencer relationship: RO:0000057 EFO:0003739 ! has_participant sequencer property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: SRA:label "FL-cDNA (Full-length sequencing of cDNA templates)" xsd:string [Term] id: EFO:0003756 name: autism spectrum disorder def: "A pervasive developmental disease that is a spectrum of psychological conditions characterized by widespread abnormalities of social interactions and communication, as well as severely restricted interests and highly repetitive behavior." [] def: "A spectrum of developmental disorders that includes autism, and Asperger syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors." [NCIT:P378] def: "Severe distortions in the development of many basic psychological functions that are not normal for any stage in development. These distortions are manifested in sustained social impairment, speech abnormalities, and peculiar motor movements." [] def: "Wide continuum of associated cognitive and neurobehavioral disorders, including, but not limited to, three core-defining features: impairments in socialization, impairments in verbal and nonverbal communication, and restricted and repetitive patterns of behaviors. (DSM, 1994)" [] synonym: "atypical autism" RELATED [DOID:0060042] synonym: "autism spectrum disease" EXACT [] synonym: "autism spectrum disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "Autism Spectrum Disorders" EXACT [] synonym: "autistic spectrum disorder" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "CHILD DEVELOPMENT DIS PERVASIVE" EXACT [] synonym: "Child Development Disorders, Pervasive" EXACT [] synonym: "Development Disorder, Pervasive" EXACT [] synonym: "Development Disorders, Pervasive" EXACT [] synonym: "Disorder, Autism Spectrum" EXACT [] synonym: "Disorder, Pervasive Development" EXACT [] synonym: "Disorders, Autism Spectrum" EXACT [] synonym: "Disorders, Pervasive Development" EXACT [] synonym: "PERVASIVE CHILD DEVELOPMENT DIS" EXACT [] synonym: "Pervasive Child Development Disorders" EXACT [] synonym: "Pervasive Development Disorder" EXACT [] synonym: "Pervasive Development Disorders" EXACT [] synonym: "pervasive developmental disorder - not otherwise specified" EXACT [MONDO:0005261] synonym: "pervasive developmental disorders" EXACT [NCIT:C88412] synonym: "Spectrum Disorder, Autism" EXACT [] synonym: "Spectrum Disorders, Autism" EXACT [] xref: DOID:0060041 {source="MONDO:equivalentTo", source="EFO:0003756"} xref: DOID:0060042 {source="MONDO:relatedTo", source="EFO:0003759"} xref: EFO:0003759 {source="MONDO:equivalentTo"} xref: MedDRA:10063844 xref: MeSH:D002659 xref: MONDO:0005258 xref: NCIT:C88412 {source="MONDO:equivalentTo", source="EFO:0003756"} xref: NCIt:C88412 xref: OMIM:209850 xref: OMIM:606053 xref: OMIMPS:209850 xref: Orphanet:106 {source="MONDO:equivalentObsolete"} xref: SCTID:231536004 {source="MONDO:relatedTo", source="EFO:0003759"} xref: SCTID:408856003 {source="MONDO:equivalentTo"} is_a: MONDO:0000594 {source="DOID:0060041", source="NCIT:C88412"} ! pervasive developmental disorder relationship: EFO:0000784 EFO:0001903 ! has_disease_location nervous system developmental tissue property_value: exactMatch DOID:0060041 property_value: exactMatch http://identifiers.org/snomedct/408856003 property_value: exactMatch NCIT:C88412 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003757 name: Asperger syndrome def: "A disorder most often diagnosed in the pediatric years in which the individual displays marked impairment in social interaction and a repetitive, stereotyped pattern of behavior. The individual, however, displays no delay in language or cognitive development, which differentiates Asperger Syndrome from autism." [NCIT:C97159] def: "An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development." [] comment: The name Aspergers is controversial, however, it seems to be the community accepted name. {xref="https://github.com/monarch-initiative/mondo/issues/705", xref="https://blogs.scientificamerican.com/observations/the-problem-with-aspergers/", xref="https://github.com/EBISPOT/efo/issues/275"} synonym: "Asperger disorder" EXACT [] synonym: "Asperger syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "asperger syndrome, susceptibility to" RELATED [OMIMPS:608638] synonym: "Asperger's disorder" EXACT [] synonym: "Asperger's syndrome" EXACT [] synonym: "ASPG" BROAD ABBREVIATION [] synonym: "autism spectrum disorder without disorder of intellectual development and with mild or no impairment of functional language" EXACT [https://github.com/monarch-initiative/mondo/issues/705] synonym: "X-linked Asperger syndrome" EXACT [] xref: DOID:0050432 {source="MONDO:equivalentTo", source="EFO:0003757"} xref: MESH:D020817 {source="DOID:0050432", source="MONDO:equivalentTo", source="EFO:0003757"} xref: MeSH:D020817 xref: MONDO:0005259 xref: NCIT:C97159 {source="DOID:0050432", source="MONDO:equivalentTo", source="EFO:0003757"} xref: NCIt:C97159 xref: OMIM:300494 xref: OMIM:300497 xref: Orphanet:1162 {source="DOID:0050432", source="MONDO:equivalentObsolete"} xref: SCTID:23560001 {source="DOID:0050432", source="MONDO:equivalentTo", source="EFO:0003757"} xref: SNOMEDCT:23560001 is_a: EFO:0003756 {source="DOID:0050432", source="EFO:0003757", source="NCIT:C97159"} ! autism spectrum disorder property_value: exactMatch DOID:0050432 property_value: exactMatch http://identifiers.org/mesh/D020817 property_value: exactMatch http://identifiers.org/snomedct/23560001 property_value: exactMatch NCIT:C97159 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003758 name: autism def: "A disorder beginning in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual. (DSM-IV)" [] def: "An autism spectrum disease that is a disorder of neural development characterized by impaired social interaction and communication, and by restricted and repetitive behavior observed in children before a child is three years old." [] def: "Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior." [PMID:28879490] synonym: "autism" EXACT [] {comment="preferred label from MONDO"} synonym: "autism" EXACT [DOID:12849, MONDO:ambiguous, OMIM:209850] synonym: "autism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "autism spectrum disorder" BROAD [OMIM:209850] synonym: "Autism, Early Infantile" EXACT [] synonym: "Autism, Infantile" EXACT [] synonym: "autism, susceptiblity to" NARROW [OMIMPS:209850] synonym: "Autisms" EXACT [] synonym: "Autistic Disorder" EXACT [] synonym: "autistic disorder" RELATED [OMIM:209850] synonym: "autistic disorder of childhood onset" EXACT [DOID:12849] synonym: "Autistic disorder of childhood onset (disorder)" EXACT [] synonym: "childhood autism" EXACT [DOID:12849] synonym: "Disorder, Autistic" EXACT [] synonym: "Disorders, Autistic" EXACT [] synonym: "Early Infantile Autism" EXACT [] synonym: "Infantile Autism" EXACT [] synonym: "infantile autism" EXACT [DOID:12849] synonym: "Infantile autism (disorder)" EXACT [] synonym: "Infantile Autism, Early" EXACT [] synonym: "Infantile psychosis (disorder)" EXACT [] synonym: "Kanner Syndrome" EXACT [] synonym: "Kanner's Syndrome" EXACT [] synonym: "Kanner's syndrome" EXACT [DOID:12849] synonym: "Kanners Syndrome" EXACT [] synonym: "Syndrome, Kanner's" EXACT [] xref: DOID:12849 {source="MONDO:equivalentTo", source="EFO:0003758"} xref: HP:0000717 {source="MONDO:otherHierarchy"} xref: ICD9:299.0 {source="DOID:12849", source="EFO:0003758"} xref: MedDRA:10003805 xref: MESH:D001321 {source="DOID:12849", source="MONDO:equivalentTo", source="EFO:0003758"} xref: MeSH:D001321 xref: MONDO:0005260 xref: NCIT:C97161 {source="DOID:12849", source="MONDO:equivalentTo", source="EFO:0003758"} xref: NCIt:C97161 xref: OMIM:209850 {source="DOID:12849", source="MONDO:equivalentTo"} xref: OMIM:300425 xref: OMIM:300495 xref: OMIM:300830 xref: OMIM:300847 xref: OMIM:300872 xref: OMIM:612100 xref: OMIM:613410 xref: OMIM:613436 xref: OMIM:615032 xref: OMIM:615091 xref: OMIMPS:209850 {source="MONDO:relatedTo"} xref: SNOMEDCT:408856003 xref: SNOMEDCT:408857007 is_a: EFO:0003756 {source="DOID:12849", source="EFO:0003758", source="NCIT:C97161"} ! autism spectrum disorder property_value: exactMatch DOID:12849 property_value: exactMatch http://identifiers.org/mesh/D001321 property_value: exactMatch https://omim.org/entry/209850 property_value: exactMatch NCIT:C97161 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3954 xsd:anyURI property_value: IAO:0000589 "autism (disease)" xsd:string [Term] id: EFO:0003759 name: pervasive developmental disorder - not otherwise specified def: "An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism." [] synonym: "atypical autism" EXACT [] synonym: "PDD-NOS" EXACT [] xref: DOID:0060042 xref: ICD10:F84 xref: SNOMEDCT:231536004 is_a: EFO:0003756 ! autism spectrum disorder property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003760 name: central nervous system cyst def: "A congenital or acquired cyst that is present in the central nervous system." [NCIT:P378] def: "Congenital or acquired cysts of the brain, spinal cord, or meninges which may remain stable in size or undergo progressive enlargement." [] synonym: "central nervous system cyst" EXACT [MONDO:ambiguous] synonym: "central nervous system cyst" EXACT [] {comment="preferred label from MONDO"} synonym: "central nervous system cyst (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Central Nervous System Cysts" EXACT [] synonym: "Cleft Cysts, Rathke's" EXACT [] synonym: "cleft cysts, Rathke's" RELATED [MESH:D020863] synonym: "CNS Cyst" EXACT [] synonym: "CNS cyst" EXACT [NCIT:C4657] synonym: "CNS CYSTS" EXACT [] synonym: "Cyst of Central Nervous System" EXACT [] synonym: "cyst of Central nervous system" EXACT [NCIT:C4657] synonym: "Cyst of CNS" EXACT [] synonym: "cyst of CNS" EXACT [NCIT:C4657] synonym: "Cyst of the Central Nervous System" EXACT [] synonym: "cyst of the Central nervous system" EXACT [NCIT:C4657] synonym: "Cyst of the CNS" EXACT [] synonym: "cyst of the CNS" EXACT [NCIT:C4657] synonym: "Cyst, Suprasellar" EXACT [] synonym: "cyst, suprasellar" RELATED [MESH:D020863] synonym: "CYSTS CNS" EXACT [] synonym: "Cysts, Central Nervous System" EXACT [] synonym: "cysts, central nervous system" RELATED [MESH:D020863] synonym: "Cysts, Rathke Cleft" EXACT [] synonym: "cysts, Rathke cleft" RELATED [MESH:D020863] synonym: "Cysts, Suprasellar" EXACT [] synonym: "cysts, suprasellar" RELATED [MESH:D020863] synonym: "Rathke Cleft Cysts" EXACT [] synonym: "Rathke cleft cysts" RELATED [MESH:D020863] synonym: "Rathke's Cleft Cysts" EXACT [] synonym: "Rathke's cleft cysts" RELATED [MESH:D020863] synonym: "Rathkes Cleft Cysts" EXACT [] synonym: "Rathkes cleft cysts" RELATED [MESH:D020863] synonym: "Suprasellar Cyst" EXACT [] synonym: "suprasellar cyst" RELATED [MESH:D020863] synonym: "Suprasellar Cysts" EXACT [] synonym: "suprasellar cysts" RELATED [MESH:D020863] xref: HP:0030724 {source="MONDO:otherHierarchy"} xref: MESH:D020863 {source="EFO:0003760", source="MONDO:equivalentTo"} xref: MeSH:D020863 xref: MONDO:0005262 xref: NCIT:C4657 {source="EFO:0003760", source="MONDO:equivalentTo", source="MONDO:otherHierarchy"} xref: NCIt:C4657 xref: SCTID:277333006 {source="EFO:0003760", source="MONDO:equivalentTo"} xref: SNOMEDCT:277333006 xref: UMLS:C0349606 {source="MONDO:equivalentTo"} is_a: EFO:0005774 ! brain disease relationship: EFO:0000784 UBERON:0000955 ! has_disease_location brain property_value: exactMatch http://identifiers.org/mesh/D020863 property_value: exactMatch http://identifiers.org/snomedct/277333006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349606 property_value: exactMatch NCIT:C4657 property_value: IAO:0000117 "Tomasz Adamusak" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: IAO:0000589 "central nervous system cyst (disease)" xsd:string [Term] id: EFO:0003761 name: unipolar depression def: "A mood disorder having a clinical course involving one or more episodes of serious psychological depression that last two or more weeks each, do not have intervening episodes of mania or hypomania, and are characterized by a loss of interest or pleasure in almost all activities and by some or all of disturbances of appetite, sleep, or psychomotor functioning, a decrease in energy, difficulties in thinking or making decisions, loss of self-esteem or feelings of guilt, and suicidal thoughts or attempts." [] def: "An episode of depression lasting two or more weeks without an intervening episode of mania." [NCIT:P378] synonym: "Depression" EXACT [] synonym: "Depression, Emotional" EXACT [] synonym: "Depression, Endogenous" EXACT [] synonym: "Depression, Involutional" EXACT [] synonym: "Depression, Neurotic" EXACT [] synonym: "Depression, Unipolar" EXACT [] synonym: "Depressions" EXACT [] synonym: "Depressions, Emotional" EXACT [] synonym: "Depressions, Endogenous" EXACT [] synonym: "Depressions, Neurotic" EXACT [] synonym: "Depressions, Unipolar" EXACT [] synonym: "DEPRESSIVE DIS" EXACT [] synonym: "DEPRESSIVE DIS MAJOR" EXACT [] synonym: "Depressive Disorder" EXACT [] synonym: "Depressive Disorder, Major" EXACT [] synonym: "Depressive Disorders" EXACT [] synonym: "Depressive Disorders, Major" EXACT [] synonym: "Depressive Neuroses" EXACT [] synonym: "Depressive Neurosis" EXACT [] synonym: "Depressive Symptom" EXACT [] synonym: "Depressive Symptoms" EXACT [] synonym: "Depressive Syndrome" EXACT [] synonym: "Depressive Syndromes" EXACT [] synonym: "Disorder, Depressive" EXACT [] synonym: "Disorder, Major Depressive" EXACT [] synonym: "Disorders, Depressive" EXACT [] synonym: "Disorders, Major Depressive" EXACT [] synonym: "Emotional Depression" EXACT [] synonym: "Emotional Depressions" EXACT [] synonym: "Endogenous Depression" EXACT [] synonym: "Endogenous Depressions" EXACT [] synonym: "Involutional Depression" EXACT [] synonym: "Involutional Psychoses" EXACT [] synonym: "Involutional Psychosis" EXACT [] synonym: "major depression" EXACT [NCIT:C35094] synonym: "MAJOR DEPRESSIVE DIS" EXACT [] synonym: "major depressive disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "major depressive disorder" EXACT [NCIT:C35094] synonym: "major depressive disorder 1" BROAD [OMIM:608516, OMIM:genemap2] synonym: "major depressive disorder 2" BROAD [OMIM:608516, OMIM:genemap2] synonym: "major depressive disorder and accelerated response to antidepressant drug treatment" EXACT [OMIM:608516, OMIM:genemap2] synonym: "major depressive disorder, response to citalopram therapy in" EXACT [OMIM:608516, OMIM:genemap2] synonym: "Major Depressive Disorders" EXACT [] synonym: "Neuroses, Depressive" EXACT [] synonym: "Neurosis, Depressive" EXACT [] synonym: "Neurotic Depression" EXACT [] synonym: "Neurotic Depressions" EXACT [] synonym: "Paraphrenia, Involutional" EXACT [] synonym: "Psychoses, Involutional" EXACT [] synonym: "Psychosis, Involutional" EXACT [] synonym: "recurrent major depression" EXACT [DOID:1470] synonym: "single major depressive episode" EXACT [DOID:1470] synonym: "Symptom, Depressive" EXACT [] synonym: "Symptoms, Depressive" EXACT [] synonym: "Syndrome, Depressive" EXACT [] synonym: "Syndromes, Depressive" EXACT [] synonym: "unipolar depression" EXACT [MONDO:0005263] synonym: "unipolar depression, susceptibility to" EXACT [OMIM:608516, OMIM:genemap2] synonym: "Unipolar Depressions" EXACT [] xref: DOID:1470 {source="MONDO:equivalentTo", xref="EFO:0003761"} xref: DOID:1595 xref: DOID:2848 {source="EFO:0003761", source="MONDO:directSiblingOf"} xref: ICD10:F32 xref: ICD10:F33 xref: ICD9:296.2 {source="DOID:1470"} xref: ICD9:296.20 {source="DOID:1470"} xref: ICD9:296.3 {source="DOID:1470"} xref: ICD9:296.30 {source="DOID:1470"} xref: MedDRA:10045543 xref: MESH:D003865 {source="EFO:0003761", source="MONDO:equivalentTo", source="DOID:1470"} xref: MeSH:D003865 xref: MFOMD:0000143 xref: MONDO:0002009 xref: NCIT:C35094 {source="EFO:0003761", source="MONDO:equivalentTo"} xref: NCIt:C35094 xref: OMIM:608516 {source="EFO:0003761", source="MONDO:equivalentTo"} xref: SCTID:300706003 {source="EFO:0003761", source="MONDO:directSiblingOf"} xref: SCTID:370143000 {source="EFO:0003761", source="MONDO:equivalentTo"} xref: SNOMEDCT:300706003 xref: SNOMEDCT:321717001 xref: SNOMEDCT:370143000 is_a: MONDO:0002050 {source="DOID:1470", source="MESH:D003865", source="NCIT:C35094"} ! depressive disorder property_value: closeMatch DOID:2848 property_value: exactMatch DOID:1470 property_value: exactMatch http://identifiers.org/mesh/D003865 property_value: exactMatch http://identifiers.org/snomedct/370143000 property_value: exactMatch https://omim.org/entry/608516 property_value: exactMatch NCIT:C35094 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: EFO:0003762 name: vitamin D deficiency def: "A nutritional condition produced by a deficiency of VITAMIN D in the diet, insufficient production of vitamin D in the skin, inadequate absorption of vitamin D from the diet, or abnormal conversion of vitamin D to its bioactive metabolites. It is manifested clinically as RICKETS in children and OSTEOMALACIA in adults. (From Cecil Textbook of Medicine, 19th ed, p1406)" [] synonym: "Avitaminosis D" EXACT [] synonym: "Avitaminosis D, NOS" EXACT [] synonym: "DEFIC VITAMIN D" EXACT [] synonym: "Deficiencies, Vitamin D" EXACT [] synonym: "Deficiency, Vitamin D" EXACT [] synonym: "VITAMIN D DEFIC" EXACT [] synonym: "Vitamin D Deficiencies" EXACT [] synonym: "Vitamin D deficiency (disorder)" EXACT [] synonym: "Vitamin D deficiency, NOS" EXACT [] synonym: "Vitamin D insufficiency" EXACT [] xref: ICD10:E55 xref: ICD9:268 xref: MedDRA:10047626 xref: MeSH:D014808 xref: NCIt:C114830 xref: SNOMEDCT:34713006 is_a: EFO:0005878 ! vitamin deficiency property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003763 name: cerebrovascular disorder def: "A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction." [NCIT:C2938] def: "A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." [] synonym: "BRAIN VASCULAR DIS" EXACT [] synonym: "Brain Vascular Disorder" EXACT [] synonym: "Brain Vascular Disorders" EXACT [] synonym: "cerebral infarction" NARROW [OMIM:601367] synonym: "cerebrovascular accident" NARROW [DOID:6713] synonym: "CEREBROVASCULAR DIS" EXACT [] synonym: "Cerebrovascular Disease" EXACT [] synonym: "cerebrovascular disease" EXACT [ISBN-13:978-1-259-64403-0, NCIT:C2938] synonym: "cerebrovascular disorder" EXACT [DOID:6713, NCIT:C2938] synonym: "cerebrovascular disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "Cerebrovascular Disorders" EXACT [] synonym: "Cerebrovascular Insufficiencies" EXACT [] synonym: "Cerebrovascular Insufficiency" EXACT [] synonym: "Cerebrovascular Occlusion" EXACT [] synonym: "Cerebrovascular Occlusions" EXACT [] synonym: "CVA" NARROW ABBREVIATION [DOID:6713] synonym: "CVA (cerebral vascular accident)" NARROW [DOID:6713] synonym: "Insufficiencies, Cerebrovascular" EXACT [] synonym: "Insufficiency, Cerebrovascular" EXACT [] synonym: "INTRACRANIAL VASCULAR DIS" EXACT [] synonym: "Intracranial Vascular Disease" EXACT [] synonym: "Intracranial Vascular Diseases" EXACT [] synonym: "Intracranial Vascular Disorder" EXACT [] synonym: "Intracranial Vascular Disorders" EXACT [] synonym: "Occlusion, Cerebrovascular" EXACT [] synonym: "Occlusions, Cerebrovascular" EXACT [] synonym: "stroke" NARROW [DOID:6713] synonym: "VASCULAR DIS INTRACRANIAL" EXACT [] synonym: "Vascular Disease, Intracranial" EXACT [] synonym: "Vascular Diseases, Intracranial" EXACT [] synonym: "Vascular Disorder, Brain" EXACT [] synonym: "Vascular Disorder, Intracranial" EXACT [] synonym: "Vascular Disorders, Brain" EXACT [] synonym: "Vascular Disorders, Intracranial" EXACT [] xref: DOID:6713 {source="EFO:0003763", source="MONDO:equivalentTo"} xref: ICD10:I66 xref: ICD10:I67 xref: ICD10:I69 xref: ICD10CM:I60-I69 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="DOID:6713", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:430-438.99 {source="EFO:0003763", source="DOID:6713"} xref: ICD9:434.91 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:437.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:437.9 {source="MONDO:equivalentTo", source="DOID:6713", source="MONDO:i2s"} xref: MedDRA:10008196 xref: MedDRA:10008200 xref: MESH:D002561 {source="EFO:0003763", source="MONDO:equivalentTo", source="DOID:6713"} xref: MeSH:D002561 xref: MONDO:0011057 xref: NCIT:C2938 {source="EFO:0003763", source="MONDO:equivalentTo", source="DOID:6713"} xref: NCIt:C2938 xref: SCTID:62914000 {source="EFO:0003763", source="MONDO:equivalentTo", source="DOID:6713"} xref: SNOMEDCT:62914000 xref: UMLS:C0007820 {source="NCIT:C2938", source="MONDO:equivalentTo", source="DOID:6713"} is_a: EFO:0005774 {source="DOID:6713", source="MESH:D002561", source="MONDO:Redundant"} ! brain disease is_a: MONDO:0043218 ! neurovascular disorder relationship: EFO:0000784 UBERON:0003499 ! has_disease_location brain blood vessel property_value: exactMatch DOID:6713 property_value: exactMatch http://identifiers.org/mesh/D002561 property_value: exactMatch http://identifiers.org/snomedct/62914000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007820 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/I60-I69 property_value: exactMatch NCIT:C2938 property_value: excluded_subClassOf MONDO:0000473 {source="DOID:6713"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003764 name: transient ischemic attack def: "A brief attack (from a few minutes to an hour) of cerebral dysfunction of vascular origin, with no persistent neurological deficit." [NCIT:C50781] def: "Brief reversible episodes of focal, nonconvulsive ischemic dysfunction of the brain having a duration of less than 24 hours, and usually less than one hour, caused by transient thrombotic or embolic blood vessel occlusion or stenosis. Events may be classified by arterial distribution, temporal pattern, or etiology (e.g., embolic vs. thrombotic). (From Adams et al., Principles of Neurology, 6th ed, pp814-6)" [] synonym: "Anterior Circulation Transient Ischemic Attack" EXACT [] synonym: "attack, transient ischaemic" EXACT OMO:0003005 [] synonym: "Attack, Transient Ischemic" EXACT [] synonym: "attack, transient ischemic" EXACT [NCIT:C50781] synonym: "Attacks, Transient Ischemic" EXACT [] synonym: "Brain Stem Ischemia, Transient" EXACT [] synonym: "Brain Stem Transient Ischemic Attack" EXACT [] synonym: "Brain TIA" EXACT [] synonym: "Brainstem Ischemia, Transient" EXACT [] synonym: "Brainstem Ischemias, Transient" EXACT [] synonym: "Brainstem Transient Ischemic Attack" EXACT [] synonym: "Carotid Circulation Transient Ischemic Attack" EXACT [] synonym: "Cerebral Ischemia, Transient" EXACT [] synonym: "Cerebral Ischemias, Transient" EXACT [] synonym: "Crescendo Transient Ischemic Attacks" EXACT [] synonym: "ischaemic attack, transient" EXACT OMO:0003005 [] synonym: "Ischemia, Transient Brainstem" EXACT [] synonym: "Ischemia, Transient Cerebral" EXACT [] synonym: "Ischemias, Transient Brainstem" EXACT [] synonym: "Ischemias, Transient Cerebral" EXACT [] synonym: "Ischemic Attack, Transient" EXACT [] synonym: "ischemic attack, transient" EXACT [NCIT:C50781] synonym: "Ischemic Attacks, Transient" EXACT [] synonym: "Posterior Circulation Transient Ischemic Attack" EXACT [] synonym: "TIA" EXACT ABBREVIATION [DOID:224, NCIT:C50781] synonym: "TIA (Transient Ischemic Attack)" EXACT [] synonym: "TIA - Transient ischaemic attack" EXACT [] synonym: "TIA - transient ischaemic attack" EXACT OMO:0003005 [] synonym: "TIA - transient ischemic attack" EXACT [DOID:224] synonym: "TIA, Brain" EXACT [] synonym: "TIAs (Transient Ischemic Attack)" EXACT [] synonym: "Transient Brainstem Ischemia" EXACT [] synonym: "Transient cerebral ischaemia" EXACT [] synonym: "transient cerebral ischaemia" EXACT [DOID:224] synonym: "Transient cerebral ischaemia NOS" EXACT [] synonym: "Transient Cerebral Ischemia" EXACT [] synonym: "transient cerebral ischemia" RELATED [DOID:224] synonym: "Transient cerebral ischemia (disorder) [Ambiguous]" EXACT [] synonym: "transient cerebral ischemia (disorder) [ambiguous]" EXACT [DOID:224] synonym: "Transient Cerebral Ischemias" EXACT [] synonym: "transient ischaemic attack (disease)" EXACT OMO:0003005 [] synonym: "transient ischaemic attacks" EXACT OMO:0003005 [] synonym: "transient ischemic attack" EXACT [] {comment="preferred label from MONDO"} synonym: "transient ischemic attack" EXACT [DOID:224, MONDO:ambiguous, MTH:NOCODE, NCIT:C50781] synonym: "transient ischemic attack (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Transient Ischemic Attack, Anterior Circulation" EXACT [] synonym: "Transient Ischemic Attack, Brain Stem" EXACT [] synonym: "Transient Ischemic Attack, Brainstem" EXACT [] synonym: "Transient Ischemic Attack, Carotid Circulation" EXACT [] synonym: "Transient Ischemic Attack, Posterior Circulation" EXACT [] synonym: "Transient Ischemic Attack, Vertebrobasilar Circulation" EXACT [] synonym: "Transient Ischemic Attacks" EXACT [] synonym: "transient ischemic attacks" EXACT [NCIT:C50781] synonym: "Transient ischemic attacks (disorder)" EXACT [] synonym: "Transient Ischemic Attacks, Crescendo" EXACT [] synonym: "Vertebrobasilar Circulation Transient Ischemic Attack" EXACT [] xref: DOID:224 {source="EFO:0003764", source="MONDO:equivalentTo"} xref: HP:0002326 {source="MONDO:otherHierarchy"} xref: ICD10:G45 xref: ICD9:435 {source="EFO:0003764"} xref: ICD9:435.8 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:224"} xref: ICD9:435.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10072760 xref: MESH:D002546 {source="EFO:0003764", source="MONDO:equivalentTo", source="DOID:224"} xref: MeSH:D002546 xref: MONDO:0005264 xref: NCIT:C50781 {source="EFO:0003764", source="MONDO:equivalentTo", source="DOID:224"} xref: NCIt:C50781 xref: SCTID:266257000 {source="EFO:0003764", source="MONDO:equivalentTo", source="DOID:224"} xref: SNOMEDCT:266257000 is_a: MONDO:0005299 {source="DOID:224", source="MESH:D002546", source="MONDO:Redundant", source="NCIT:C50781"} ! brain ischemia property_value: exactMatch DOID:224 property_value: exactMatch http://identifiers.org/mesh/D002546 property_value: exactMatch http://identifiers.org/snomedct/266257000 property_value: exactMatch NCIT:C50781 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: IAO:0000589 "transient ischemic attack (disease)" xsd:string [Term] id: EFO:0003765 name: sign or symptom def: "Clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient." [] def: "Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." [] synonym: "Clinical Finding" EXACT [] synonym: "DESC" EXACT [] synonym: "Diagnostic Findings" EXACT [] synonym: "Finding" EXACT [] synonym: "Signs and Symptoms" EXACT [] synonym: "SIGNS SYMPTOMS" EXACT [] synonym: "Symptoms and Signs" EXACT [] xref: ICD10:R68 xref: MeSH:D012816 xref: NCIt:C100104 xref: NCIt:C3367 is_a: EFO:0000651 ! phenotype property_value: definition:citation "OGMS_0000020" xsd:string property_value: definition:citation "OGMS_0000024" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003766 name: obsolete_pain in abdomen def: "Painful sensation in the abdominal region." [] def: "Sensation of discomfort, distress, or agony in the abdominal region; generally associated with functional disorders, tissue injuries, or diseases." [] synonym: "Abdominal Pain" EXACT [] synonym: "Abdominal Pains" EXACT [] synonym: "Pain, Abdominal" EXACT [] synonym: "Pains, Abdominal" EXACT [] xref: ICD10:R10 xref: MeSH:D015746 xref: NCIt:C26682 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.36.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate.\n\nUse http://purl.obolibrary.org/obo/HP_0002027" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HP_0002027 [Term] id: EFO:0003767 name: inflammatory bowel disease def: "A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. --2003[accessedResource: NCIt:C3138][accessDate: 05-04-2011]" [] def: "A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type." [NCIT:C3138] synonym: "autoimmune bowel disorder" EXACT [NCIT:C3138] synonym: "Bowel Diseases, Inflammatory" EXACT [] synonym: "IBD" EXACT ABBREVIATION [NCIT:C3138] synonym: "INFLAMM BOWEL DIS" EXACT [] synonym: "inflammatory bowel disease" EXACT [] {comment="preferred label from MONDO"} synonym: "inflammatory bowel disease" EXACT [NCIT:C3138] synonym: "Inflammatory Bowel Diseases" EXACT [] xref: DOID:0050589 {source="MONDO:equivalentTo", source="EFO:0003767"} xref: ICD9:558.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10021184 xref: MedDRA:10021972 xref: MESH:D015212 {source="MONDO:equivalentTo", source="DOID:0050589", source="EFO:0003767"} xref: MeSH:D015212 xref: MONDO:0005265 xref: NCIT:C3138 {source="MONDO:equivalentTo", source="DOID:0050589", source="EFO:0003767"} xref: NCIt:C3138 xref: OMIM:608448 xref: OMIM:611081 xref: OMIM:612244 xref: OMIM:612245 xref: OMIM:612261 xref: OMIM:612278 xref: OMIM:618077 xref: OMIMPS:266600 {source="MONDO:equivalentTo", source="DOID:0050589"} xref: SCTID:24526004 {source="MONDO:equivalentTo", source="DOID:0050589", source="EFO:0003767"} xref: SNOMEDCT:24526004 xref: UMLS:C0021390 {source="MONDO:equivalentTo", source="DOID:0050589", source="NCIT:C3138"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0005140 ! autoimmune disease is_a: EFO:0009431 {source="DOID:0050589", source="EFO:0003767", source="MESH:D015212", source="NCIT:C3138/inferred"} ! intestinal disease relationship: EFO:0000784 UBERON:0002405 ! has_disease_location immune system property_value: exactMatch DOID:0050589 property_value: exactMatch http://identifiers.org/mesh/D015212 property_value: exactMatch http://identifiers.org/snomedct/24526004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0021390 property_value: exactMatch https://omim.org/phenotypicSeries/PS266600 property_value: exactMatch NCIT:C3138 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003768 name: nicotine dependence def: "Inhaling and exhaling the smoke of tobacco or something similar to tobacco." [] def: "Physical and psychological dependence on nicotine." [NCIT:C54203] def: "Tobacco used to the detriment of a person's health or social functioning. Tobacco dependence is included." [] synonym: "Cigarette Smoking" EXACT [] synonym: "Dependence, Nicotine" EXACT [] synonym: "Dependence, Tobacco" EXACT [] synonym: "Disorder, Nicotine Use" EXACT [] synonym: "Disorder, Tobacco Use" EXACT [] synonym: "Disorder, Tobacco-Use" EXACT [] synonym: "Nicotine Addiction" EXACT [] synonym: "nicotine addiction" EXACT [NCIT:C54203] synonym: "nicotine dependence" EXACT [] {comment="preferred label from MONDO"} synonym: "NICOTINE USE DIS" EXACT [] synonym: "Nicotine Use Disorder" EXACT [] synonym: "Nicotine Use Disorders" EXACT [] synonym: "smoking" EXACT [] synonym: "Smoking, Cigarette" EXACT [] synonym: "Smoking, Tobacco" EXACT [] synonym: "Smokings, Tobacco" EXACT [] synonym: "Tobacco Dependence" EXACT [] synonym: "Tobacco Dependences" EXACT [] synonym: "Tobacco Smoking" EXACT [] synonym: "Tobacco Smokings" EXACT [] synonym: "TOBACCO USE DIS" EXACT [] synonym: "Tobacco Use Disorder" EXACT [] synonym: "tobacco use disorder" RELATED [DOID:0050742, MESH:D014029] synonym: "Tobacco Use Disorders" EXACT [] synonym: "Tobacco-Use Disorder" EXACT [] synonym: "Use Disorder, Nicotine" EXACT [] xref: DOID:0050742 {source="MONDO:equivalentTo", source="EFO:0003768"} xref: ICD10:F17 xref: ICD10CM:F17 {source="DOID:0050742", source="MONDO:equivalentTo"} xref: ICD9:305.1 {source="EFO:0003768"} xref: MedDRA:10057852 xref: MeSH:D012907 xref: MESH:D014029 {source="DOID:0050742", source="MONDO:equivalentTo", source="EFO:0003768"} xref: MeSH:D014029 xref: MONDO:0008575 xref: NCIT:C54203 {source="DOID:0050742", source="MONDO:equivalentTo", source="EFO:0003768"} xref: NCIt:C54203 xref: SCTID:56294008 {source="DOID:0050742", source="MONDO:equivalentTo", source="EFO:0003768"} xref: SNOMEDCT:56294008 is_a: EFO:0003890 {source="NCIT:C54203"} ! drug dependence property_value: exactMatch DOID:0050742 property_value: exactMatch http://identifiers.org/mesh/D014029 property_value: exactMatch http://identifiers.org/snomedct/56294008 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/F17 property_value: exactMatch NCIT:C54203 property_value: excluded_subClassOf MONDO:0020573 {source="OMIM:188890"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: EFO:0003769 name: endocrine neoplasm def: "A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma." [NCIT:C3010] def: "Tumors or cancer of the ENDOCRINE GLANDS." [] synonym: "Cancer of Endocrine Gland" EXACT [] synonym: "Cancer of the Endocrine Gland" EXACT [] synonym: "Cancer, Endocrine" EXACT [] synonym: "Cancer, Endocrine Gland" EXACT [] synonym: "Cancers, Endocrine" EXACT [] synonym: "Carcinoma of Endocrine Gland" EXACT [] synonym: "Carcinoma, Endocrine Gland" EXACT [] synonym: "Endocrine Cancer" EXACT [] synonym: "Endocrine Cancers" EXACT [] synonym: "Endocrine Gland Cancer" EXACT [] synonym: "Endocrine Gland Carcinoma" EXACT [] synonym: "ENDOCRINE GLAND NEOPL" EXACT [] synonym: "Endocrine Gland Neoplasm" EXACT [] synonym: "endocrine gland neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "endocrine gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "Endocrine Gland Neoplasms" EXACT [] synonym: "endocrine gland tumor" EXACT [MONDO:patterns/neoplasm] synonym: "endocrine gland tumour" EXACT OMO:0003005 [] synonym: "endocrine neoplasm" EXACT [DOID:170, NCIT:C3010] synonym: "endocrine system neoplasm" EXACT [NCIT:C3010] synonym: "endocrine system tumor" EXACT [NCIT:C3010] synonym: "endocrine system tumour" EXACT OMO:0003005 [] synonym: "endocrine tumor" EXACT [DOID:170, NCIT:C3010] synonym: "endocrine tumour" EXACT OMO:0003005 [] synonym: "malignant endocrine tumor" NARROW [DOID:170] synonym: "malignant endocrine tumour" NARROW OMO:0003005 [] synonym: "NEOPL ENDOCRINE GLAND" EXACT [] synonym: "neoplasm of endocrine gland" EXACT [MONDO:patterns/neoplasm] synonym: "Neoplasm, Endocrine Gland" EXACT [] synonym: "Neoplasms, Endocrine Gland" EXACT [] synonym: "tumor of endocrine gland" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of endocrine gland" EXACT OMO:0003005 [] xref: DOID:170 xref: ICD10:D35 xref: ICD10:D44 xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10061121 xref: MeSH:D004701 xref: MONDO:0002082 xref: NCIT:C3010 {source="MONDO:equivalentTo"} xref: NCIt:C3010 xref: SCTID:387922007 {source="MONDO:equivalentTo"} is_a: EFO:0000616 {source="MONDO:Redundant", source="NCIT:C3010/inferred"} ! neoplasm is_a: EFO:0001379 {source="MONDO:Redundant", source="NCIT:C3010"} ! endocrine system disease property_value: exactMatch http://identifiers.org/snomedct/387922007 property_value: exactMatch NCIT:C3010 property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003770 name: diabetic retinopathy def: "A chronic, pathological complication associated with diabetes mellitus, where retinal damages are incurred due to microaneurysms in the vasculature of the retina, progressively leading to abnormal blood vessel growth, and swelling and leaking of fluid from blood vessels, resulting in vision loss or blindness." [NCIT:P378] def: "Disease of the RETINA as a complication of DIABETES MELLITUS. It is characterized by the progressive microvascular complications, such as ANEURYSM, interretinal EDEMA, and intraocular PATHOLOGIC NEOVASCULARIZATION." [] synonym: "Diabetic Retinopathies" EXACT [] synonym: "diabetic retinopathy" EXACT [] {comment="preferred label from MONDO"} synonym: "retinal abnormality - diabetes-related" EXACT [DOID:8947] synonym: "Retinopathies, Diabetic" EXACT [] synonym: "Retinopathy, Diabetic" EXACT [] xref: DOID:8947 {source="EFO:0003770", source="MONDO:equivalentTo"} xref: ICD9:362.0 {source="EFO:0003770", source="DOID:8947"} xref: MedDRA:10012689 xref: MESH:D003930 {source="EFO:0003770", source="DOID:8947", source="MONDO:equivalentTo"} xref: MeSH:D003930 xref: MONDO:0005266 xref: NCIT:C34538 {source="EFO:0003770", source="DOID:8947", source="MONDO:equivalentTo"} xref: NCIt:C34538 xref: OMIM:603933 xref: OMIM:612623 xref: OMIM:612633 xref: OMIM:612635 xref: SCTID:4855003 {source="EFO:0003770", source="DOID:8947", source="MONDO:equivalentTo"} xref: SNOMEDCT:4855003 xref: UMLS:C0011884 {source="DOID:8947", source="MONDO:equivalentTo", source="NCIT:C34538"} is_a: EFO:0000589 {source="EFO:0003770", source="MESH:D003930/inferred"} ! metabolic disease is_a: EFO:0009486 ! diabetic eye disease is_a: MONDO:0002311 {source="DOID:8947", source="NCIT:C34538"} ! retinal vascular disorder intersection_of: EFO:0003839 ! retinopathy intersection_of: disease_arises_from_feature EFO:0000400 ! diabetes mellitus relationship: disease_arises_from_feature EFO:0000400 ! diabetes mellitus relationship: EFO:0000784 UBERON:0000966 ! has_disease_location retina property_value: exactMatch DOID:8947 property_value: exactMatch http://identifiers.org/mesh/D003930 property_value: exactMatch http://identifiers.org/snomedct/4855003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011884 property_value: exactMatch NCIT:C34538 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003771 name: obsolete_abdominal fat def: "Fatty tissue in the region of the ABDOMEN. It includes the ABDOMINAL SUBCUTANEOUS FAT and the INTRA-ABDOMINAL FAT." [] def: "Fatty tissue inside the ABDOMINAL CAVITY, including visceral fat and retroperitoneal fat. It is the most metabolically active fat in the body and easily accessible for LIPOLYSIS. Increased visceral fat is associated with metabolic complications of OBESITY." [] synonym: "Abdominal Adipose Tissue" EXACT [] synonym: "Abdominal Fats" EXACT [] synonym: "Abdominal Visceral Fat" EXACT [] synonym: "Abdominal Visceral Fats" EXACT [] synonym: "Adipose Tissue, Abdominal" EXACT [] synonym: "Adipose Tissue, Intra-Abdominal" EXACT [] synonym: "Adipose Tissue, Retroperitoneal" EXACT [] synonym: "Adipose Tissue, Visceral" EXACT [] synonym: "Fat, Abdominal" EXACT [] synonym: "Fat, Abdominal Visceral" EXACT [] synonym: "Fat, Intra Abdominal" EXACT [] synonym: "Fat, Intra-Abdominal" EXACT [] synonym: "Fat, Retroperitoneal" EXACT [] synonym: "Fat, Visceral" EXACT [] synonym: "Fats, Abdominal" EXACT [] synonym: "Fats, Abdominal Visceral" EXACT [] synonym: "Fats, Intra-Abdominal" EXACT [] synonym: "Fats, Retroperitoneal" EXACT [] synonym: "Fats, Visceral" EXACT [] synonym: "Intra Abdominal Adipose Tissue" EXACT [] synonym: "Intra Abdominal Fat" EXACT [] synonym: "Intra-Abdominal Adipose Tissue" EXACT [] synonym: "intra-abdominal fat" EXACT [] synonym: "Intra-Abdominal Fats" EXACT [] synonym: "Retroperitoneal Adipose Tissue" EXACT [] synonym: "Retroperitoneal Fat" EXACT [] synonym: "Retroperitoneal Fats" EXACT [] synonym: "Visceral Adipose Tissue" EXACT [] synonym: "Visceral Fat" EXACT [] synonym: "visceral fat" EXACT [] synonym: "Visceral Fats" EXACT [] xref: MeSH:D050152 xref: MeSH:D050153 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0007808\nLabel: adipose tissue of abdominal region" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0007808 [Term] id: EFO:0003773 name: obsolete_endocrine system component property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_6007435 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_6007435 [Term] id: EFO:0003774 name: obsolete_hyperlipidemia def: "Abnormally high level of lipids in blood." [] def: "Conditions with excess LIPIDS in the blood." [] synonym: "Hyperlipemia" EXACT [] synonym: "Hyperlipemias" EXACT [] synonym: "Hyperlipidemias" EXACT [] synonym: "Lipemia" EXACT [] synonym: "Lipemias" EXACT [] synonym: "Lipidemia" EXACT [] synonym: "Lipidemias" EXACT [] xref: MedDRA:10020667 xref: MeSH:D006949 xref: NCIt:C34707 xref: OMIM:602491 xref: SNOMEDCT:55822004 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.38.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replaced with Mondo term\nsee https://github.com/ebispot/efo/issues/1381" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/MONDO_0021187 [Term] id: EFO:0003775 name: obsolete_Job's syndrome def: "Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share." [] synonym: "Autosomal Dominant HIES" EXACT [] synonym: "Autosomal Dominant HIESs" EXACT [] synonym: "Autosomal Recessive HIES" EXACT [] synonym: "Autosomal Recessive HIESs" EXACT [] synonym: "HIES, Autosomal Dominant" EXACT [] synonym: "HIES, Autosomal Recessive" EXACT [] synonym: "HIESs, Autosomal Dominant" EXACT [] synonym: "HIESs, Autosomal Recessive" EXACT [] synonym: "Hyper IgE Syndrome" EXACT [] synonym: "Hyper IgE Syndrome, Autosomal Dominant" EXACT [] synonym: "Hyper IgE Syndrome, Autosomal Recessive" EXACT [] synonym: "Hyper Immunoglobulin E Syndrome, Autosomal Dominant" EXACT [] synonym: "Hyper Immunoglobulin E Syndrome, Autosomal Recessive" EXACT [] synonym: "Hyper-IgE Syndrome" EXACT [] synonym: "Hyper-IgE Syndrome, Autosomal Dominant" EXACT [] synonym: "Hyper-IgE Syndrome, Autosomal Recessive" EXACT [] synonym: "Hyper-IgE Syndromes" EXACT [] synonym: "Hyper-Immunoglobulin E Syndrome, Autosomal Dominant" EXACT [] synonym: "Hyper-Immunoglobulin E Syndrome, Autosomal Recessive" EXACT [] synonym: "Hyperimmunoglobulin E Recurrent Infection Syndrome" EXACT [] synonym: "hyperimmunoglobulin E syndrome" EXACT [] synonym: "hyperimmunoglobulin E syndrome (disorder)" EXACT [] synonym: "Hyperimmunoglobulin E, Recurrent Infection Syndrome" EXACT [] synonym: "Hyperimmunoglobulin E-Recurrent Infection Syndrome" EXACT [] synonym: "Hyperimmunoglobulinemia E Syndrome" EXACT [] synonym: "Hyperimmunoglobulinemia E Syndromes" EXACT [] synonym: "Job Syndrome" EXACT [] synonym: "Job's syndrome (disorder)" EXACT [] synonym: "Jobs Syndrome" EXACT [] synonym: "Syndrome, Hyper-IgE" EXACT [] synonym: "Syndrome, Hyperimmunoglobulinemia E" EXACT [] synonym: "Syndrome, Job's" EXACT [] synonym: "Syndromes, Hyperimmunoglobulinemia E" EXACT [] xref: DOID:3261 xref: MeSH:D007589 xref: NCIt:C3144 xref: OMIM:147060 xref: OMIM:615816 xref: SNOMEDCT:50926003 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.98" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication\nUse http://www.orpha.net/ORDO/Orphanet_2314\nLabel : Autosomal dominant hyper-IgE syndrome" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_2314 [Term] id: EFO:0003776 name: coronary artery bypass def: "Surgical therapy of ischemic coronary artery disease achieved by grafting a section of saphenous vein, internal mammary artery, or other substitute between the aorta and the obstructed coronary artery distal to the obstructive lesion." [] synonym: "Aortocoronary Bypass" EXACT [] synonym: "Aortocoronary Bypasses" EXACT [] synonym: "Artery Bypass, Coronary" EXACT [] synonym: "Artery Bypasses, Coronary" EXACT [] synonym: "BYPASS SURG CORONARY ARTERY" EXACT [] synonym: "Bypass Surgery, Coronary Artery" EXACT [] synonym: "Bypass, Aortocoronary" EXACT [] synonym: "Bypass, Coronary Artery" EXACT [] synonym: "Bypasses, Aortocoronary" EXACT [] synonym: "Bypasses, Coronary Artery" EXACT [] synonym: "CABG" EXACT [] synonym: "Coronary Artery Bypass Grafting" EXACT [] synonym: "CORONARY ARTERY BYPASS SURG" EXACT [] synonym: "Coronary Artery Bypass Surgery" EXACT [] synonym: "Coronary Artery Bypasses" EXACT [] xref: MeSH:D001026 xref: NCIt:C51998 is_a: EFO:0002571 ! medical procedure property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003777 name: heart disease def: "A disease involving the heart and/or pericardium." [https://orcid.org/0000-0002-6601-2165] def: "Pathological conditions involving the HEART including its structural and functional abnormalities." [] subset: rare_grouping synonym: "CARDIAC DIS" EXACT [] synonym: "Cardiac Disease" EXACT [] synonym: "cardiac disease" EXACT [DOID:114] synonym: "Cardiac Diseases" EXACT [] synonym: "disease of heart" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of heart" EXACT [] synonym: "Disease, Cardiac" EXACT [] synonym: "Disease, Heart" EXACT [] synonym: "Diseases, Cardiac" EXACT [] synonym: "Diseases, Heart" EXACT [] synonym: "disorder of heart" EXACT [MONDO:patterns/location_top] synonym: "disorder of heart/pericardium" EXACT [https://github.com/monarch-initiative/mondo/issues/1189] synonym: "HEART DIS" EXACT [] synonym: "heart disease" EXACT [MONDO:patterns/location, NCIT:C3079] synonym: "heart disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "Heart Diseases" EXACT [] synonym: "heart disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "heart disorder" EXACT [NCIT:C3079] synonym: "heart trouble" EXACT [NCIT:C3079] synonym: "heart/pericardial disease" EXACT [https://github.com/monarch-initiative/mondo/issues/1189] synonym: "heart/pericardial disease or disorder" EXACT [https://github.com/monarch-initiative/mondo/issues/1189] synonym: "heart/pericardial disorder" EXACT [https://github.com/monarch-initiative/mondo/issues/1189] synonym: "heart/pericardial trouble" EXACT [https://github.com/monarch-initiative/mondo/issues/1189] xref: DOID:114 {source="EFO:0003777", source="MONDO:equivalentTo"} xref: ICD10:I24 xref: ICD10:I51 xref: ICD9:429.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:429.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:114"} xref: ICD9:V47.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10019276 xref: MESH:D006331 {source="EFO:0003777", source="MONDO:equivalentTo", source="DOID:114"} xref: MeSH:D006331 xref: MONDO:0005267 xref: NCIT:C3079 {source="MONDO:equivalentTo", source="DOID:114"} xref: SCTID:56265001 {source="EFO:0003777", source="MONDO:equivalentTo", source="DOID:114"} xref: SNOMEDCT:56265001 xref: UMLS:C0018799 {source="MONDO:equivalentTo", source="NCIT:C3079", source="DOID:114"} xref: UMLS:CN236661 {source="MONDO:equivalentTo"} xref: UMLS:CN239852 {source="MONDO:equivalentTo"} is_a: EFO:0000319 {source="DOID:114", source="EFO:0003777", source="MESH:D006331", source="MONDO:Redundant", source="NCIT:C3079"} ! cardiovascular disease property_value: exactMatch DOID:114 property_value: exactMatch http://identifiers.org/mesh/D006331 property_value: exactMatch http://identifiers.org/snomedct/56265001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018799 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN236661 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239852 property_value: exactMatch NCIT:C3079 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003778 name: psoriatic arthritis def: "A type of inflammatory arthritis associated with PSORIASIS, often involving the axial joints and the peripheral terminal interphalangeal joints. It is characterized by the presence of HLA-B27-associated SPONDYLARTHROPATHY, and the absence of rheumatoid factor." [] def: "Joint inflammation associated with psoriasis." [NCIT:P378] subset: predisposition synonym: "Arthritic Psoriasis" EXACT [] synonym: "arthritis psoriatica" EXACT [DOID:9008] synonym: "Arthritis, Psoriatic" EXACT [] synonym: "arthropathic psoriasis" EXACT [DOID:9008] synonym: "PsA" EXACT [] synonym: "Psoriasis Arthropathica" EXACT [] synonym: "Psoriasis, Arthritic" EXACT [] synonym: "psoriatic arthritis" EXACT [] {comment="preferred label from MONDO"} synonym: "psoriatic arthritis, susceptibility to" RELATED [OMIM:607507] synonym: "psoriatic arthritis, susceptibility to, 1" RELATED [OMIM:607507] synonym: "psoriatic arthropathy" RELATED [DOID:9008] synonym: "susceptibility to psoriatic arthritis" RELATED [OMIM:607507] xref: DOID:9008 {source="MONDO:equivalentTo", source="EFO:0003778"} xref: ICD10:M07 xref: ICD9:696.0 {source="DOID:9008"} xref: MedDRA:10037160 xref: MESH:D015535 {source="DOID:9008", source="MONDO:equivalentTo", source="EFO:0003778"} xref: MeSH:D015535 xref: MONDO:0011849 xref: NCIT:C61277 {source="DOID:9008", source="MONDO:equivalentTo", source="EFO:0003778"} xref: NCIt:C61277 xref: OMIM:607507 {source="MONDO:relatedTo", source="EFO:0003778"} xref: Orphanet:40050 {source="MONDO:equivalentObsolete", source="OMIM:607507"} xref: SCTID:156370009 {source="DOID:9008", source="MONDO:equivalentTo"} xref: UMLS:C0003872 {source="DOID:9008", source="MONDO:equivalentTo", source="NCIT:C61277"} is_a: EFO:0000685 ! rheumatoid arthritis is_a: MONDO:0002254 {source="DOID:9008"} ! syndromic disease relationship: disease_has_major_feature EFO:0000676 ! psoriasis property_value: exactMatch DOID:9008 property_value: exactMatch http://identifiers.org/mesh/D015535 property_value: exactMatch http://identifiers.org/snomedct/156370009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003872 property_value: exactMatch NCIT:C61277 property_value: excluded_subClassOf MONDO:0020573 {source="OMIM:607507"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003779 name: Hashimoto's thyroiditis def: " an autoimmune disease in which the thyroid gland is attacked by a variety of cell- and antibody-mediated immune processes, causing primary hypothyroidism. It was the first disease to be recognized as an autoimmune disease. It was first described by the Japanese specialist Hakaru Hashimoto in a paper published in Germany in 1912.\n\n" [] def: "An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism." [NCIT:C27191] comment: An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism. synonym: "autoimmune thyroiditis" EXACT [] synonym: "autoimmune thyroiditis" RELATED [DOID:7188] synonym: "chronic lymphocytic thyroiditides" RELATED [MESH:D050031] synonym: "chronic lymphocytic thyroiditis" EXACT [DOID:7188] synonym: "disease, Hashimoto" RELATED [MESH:D050031] synonym: "disease, Hashimoto's" RELATED [MESH:D050031] synonym: "Hashimoto disease" EXACT [NCIT:C27191] synonym: "Hashimoto hypothyroidism" EXACT [Orphanet:855] synonym: "Hashimoto struma" RELATED [MESH:D050031, OMIM:140300] synonym: "Hashimoto syndrome" RELATED [MESH:D050031] synonym: "Hashimoto thyroiditides" RELATED [MESH:D050031] synonym: "Hashimoto Thyroiditis" EXACT [] synonym: "Hashimoto thyroiditis" EXACT [] {comment="preferred label from MONDO"} synonym: "Hashimoto thyroiditis" EXACT [DOID:7188, MESH:D050031, OMIM:140300] synonym: "Hashimoto's disease" EXACT [DOID:7188, MESH:D050031] synonym: "Hashimoto's struma" RELATED [MESH:D050031] synonym: "Hashimoto's syndrome" EXACT [DOID:7188, MESH:D050031] synonym: "Hashimoto's syndromes" RELATED [MESH:D050031] synonym: "Hashimoto's thyroiditis" EXACT [DOID:7188, MONDO:0005268] synonym: "Hashimotos disease" RELATED [MESH:D050031] synonym: "Hashimotos syndrome" RELATED [MESH:D050031] synonym: "HT" RELATED ABBREVIATION [MESH:D050031] synonym: "Ht" RELATED [OMIM:140300] synonym: "hypothyroidism, autoimmune" RELATED [OMIM:140300] synonym: "hypothyroidism, autoimmune thyroid autoantibodies, included" RELATED [MESH:D050031] synonym: "Lymphocytic Thyroiditides" EXACT [] synonym: "lymphocytic thyroiditides, chronic" RELATED [MESH:D050031] synonym: "Lymphocytic Thyroiditis" EXACT [] synonym: "lymphocytic thyroiditis" BROAD [DOID:7188, NCIT:C38766] synonym: "lymphocytic thyroiditis, chronic" RELATED [MESH:D050031] synonym: "Lymphomatous Thyroiditides" EXACT [] synonym: "syndrome, Hashimoto's" RELATED [MESH:D050031] synonym: "syndromes, Hashimoto's" RELATED [MESH:D050031] synonym: "thyroid autoantibodies" RELATED [OMIM:140300] synonym: "thyroiditides, chronic lymphocytic" RELATED [MESH:D050031] synonym: "thyroiditides, Hashimoto" RELATED [MESH:D050031] synonym: "Thyroiditides, Lymphocytic" EXACT [] synonym: "Thyroiditides, Lymphomatous" EXACT [] synonym: "thyroiditis, chronic lymphocytic" RELATED [MESH:D050031] synonym: "thyroiditis, Hashimoto" RELATED [MESH:D050031] synonym: "Thyroiditis, Lymphocytic" EXACT [] synonym: "Thyroiditis, Lymphomatous" EXACT [] xref: DOID:7188 {source="MONDO:equivalentTo", source="EFO:0003779"} xref: ICD10CM:E06.3 {source="MONDO:equivalentTo", source="DOID:7188"} xref: ICD9:245.2 {source="EFO:0003779"} xref: MedDRA:10019167 xref: MESH:D050031 {source="MONDO:equivalentTo", source="EFO:0003779"} xref: MeSH:D050031 xref: MONDO:0007699 xref: NCIT:C27191 {source="MONDO:equivalentTo", source="EFO:0003779"} xref: NCIt:C27191 xref: NCIt:C38766 xref: OMIM:140300 {source="MONDO:equivalentTo", source="EFO:0003779"} xref: OMIM:608175 xref: Orphanet:855 {source="MONDO:equivalentObsolete", source="OMIM:140300"} xref: SNOMEDCT:21983002 xref: UMLS:C0677607 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C27191", source="OMIM:140300"} xref: Wikipedia:Hashimoto's_thyroiditis {source="EFO:0003779"} is_a: EFO:0006812 {source="EFO:0003779", source="MESH:D050031"} ! autoimmune thyroid disease property_value: exactMatch DOID:7188 property_value: exactMatch http://identifiers.org/mesh/D050031 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0677607 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E06.3 property_value: exactMatch https://omim.org/entry/140300 property_value: exactMatch NCIT:C27191 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003780 name: Behcet's syndrome def: "A autoimmune disease of cardiovascular system and is_a vasculitis that causes chronic inflammation in blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis." [] def: "A chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations." [Orphanet:117] def: "Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death. SYNOVITIS; THROMBOPHLEBITIS; gastrointestinal ulcerations; RETINAL VASCULITIS; and OPTIC ATROPHY may occur as well." [] subset: ordo_disease {source="Orphanet:117"} synonym: "Adamantiades-Behcet disease" EXACT [DOID:13241] synonym: "BD" RELATED ABBREVIATION [GARD:0000848] synonym: "Bechet syndrome" EXACT [] synonym: "BEHCET DIS" EXACT [] synonym: "Behcet Disease" EXACT [] synonym: "Behcet disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Behcet disease" EXACT [OMIM:109650] synonym: "Behcet syndrome" EXACT [DOID:13241, OMIM:109650] synonym: "Behcet's disease" EXACT [] synonym: "Behcet's disease" RELATED [DOID:13241] synonym: "Behcet's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:13241, ICD9CM:136.1, MONDO:LexicalVariant] synonym: "Behcets Syndrome" EXACT [] synonym: "Behet's syndrome" EXACT [DOID:13241] synonym: "Behet's syndrome (disorder)" EXACT [] synonym: "Behçet disease" EXACT [NCIT:C34416] synonym: "Behçet syndrome" EXACT [NCIT:C34416] synonym: "Behçet's disease" RELATED [GARD:0000848] synonym: "Behçet's syndrome" EXACT [NCIT:C34416] synonym: "Behçet-Adamantiades syndrome" EXACT [NCIT:C34416] synonym: "Behçet’s disease" RELATED [GARD:0000848] synonym: "Morbus Behçet's syndrome" EXACT [NCIT:C34416] synonym: "silk road disease" EXACT [NCIT:C34416] synonym: "triple symptom complex" EXACT [DOID:13241] synonym: "Triple-Symptom Complex" EXACT [] xref: DOID:13241 {source="MONDO:equivalentTo", source="EFO:0003780"} xref: ICD9:136.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13241", source="EFO:0003780"} xref: MedDRA:10004213 {source="Orphanet:117", source="Orphanet:117/e"} xref: MESH:D001528 {source="Orphanet:117", source="MONDO:equivalentTo", source="Orphanet:117/e", source="DOID:13241", source="EFO:0003780"} xref: MeSH:D001528 xref: MONDO:0007191 xref: NCIT:C34416 {source="MONDO:equivalentTo", source="DOID:13241", source="EFO:0003780"} xref: NCIt:C34416 xref: OMIM:109650 {source="Orphanet:117", source="MONDO:equivalentTo", source="Orphanet:117/e", source="DOID:13241", source="EFO:0003780"} xref: Orphanet:117 {source="MONDO:equivalentTo", source="OMIM:109650"} xref: SCTID:310701003 {source="MONDO:equivalentTo", source="DOID:13241", source="EFO:0003780"} xref: SNOMEDCT:310701003 xref: UMLS:C0004943 {source="Orphanet:117", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:117/e", source="DOID:13241", source="NCIT:C34416", source="OMIM:109650"} is_a: EFO:0000474 ! epilepsy is_a: EFO:0003086 ! kidney disease is_a: EFO:0005140 ! autoimmune disease is_a: MONDO:0002254 {source="NCIT:C34416"} ! syndromic disease is_a: MONDO:0019293 {source="MESH:D001528"} ! skin vascular disease relationship: EFO:0000784 UBERON:0001981 ! has_disease_location blood vessel relationship: related_to EFO:0006803 ! vasculitis property_value: closeMatch http://identifiers.org/meddra/10004213 property_value: exactMatch DOID:13241 property_value: exactMatch http://identifiers.org/mesh/D001528 property_value: exactMatch http://identifiers.org/snomedct/310701003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004943 property_value: exactMatch https://omim.org/entry/109650 property_value: exactMatch NCIT:C34416 property_value: exactMatch Orphanet:117 property_value: excluded_subClassOf MONDO:0015488 {source="Orphanet:117"} property_value: excluded_subClassOf MONDO:0015657 {source="Orphanet:117"} property_value: excluded_subClassOf MONDO:0017259 {source="Orphanet:117"} property_value: excluded_subClassOf MONDO:0017260 {source="Orphanet:117"} property_value: excluded_subClassOf MONDO:0017261 {source="Orphanet:117"} property_value: excluded_subClassOf MONDO:0017370 {source="Orphanet:117"} property_value: excluded_subClassOf MONDO:0017957 {source="Orphanet:117"} property_value: excluded_subClassOf MONDO:0019724 {source="Orphanet:117"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003781 name: carotid artery disease def: "A disease involving the carotid artery segment." [https://orcid.org/0000-0002-6601-2165] def: "Pathological conditions involving the CAROTID ARTERIES, including the common, internal, and external carotid arteries. ATHEROSCLEROSIS and TRAUMA are relatively frequent causes of carotid artery pathology." [] synonym: "ARTERIAL DIS CAROTID" EXACT [] synonym: "ARTERIAL DIS COMMON CAROTID" EXACT [] synonym: "ARTERIAL DIS EXTERNAL CAROTID" EXACT [] synonym: "ARTERIAL DIS INTERNAL CAROTID" EXACT [] synonym: "Arterial Disease, Carotid" EXACT [] synonym: "Arterial Diseases, Carotid" EXACT [] synonym: "Arterial Diseases, Common Carotid" EXACT [] synonym: "Arterial Diseases, External Carotid" EXACT [] synonym: "Arterial Diseases, Internal Carotid" EXACT [] synonym: "Artery Disease, Carotid" EXACT [] synonym: "Artery Diseases, Carotid" EXACT [] synonym: "Artery Disorder, Carotid" EXACT [] synonym: "Artery Disorders, Carotid" EXACT [] synonym: "Carotid Arterial Disease" EXACT [] synonym: "Carotid Arterial Diseases" EXACT [] synonym: "CAROTID ARTERY DIS" EXACT [] synonym: "Carotid Artery Diseases" EXACT [] synonym: "Carotid Artery Disorder" EXACT [] synonym: "carotid artery disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "carotid artery disorder" EXACT [NCIT:C84476] synonym: "Carotid Artery Disorders" EXACT [] synonym: "carotid artery segment disease" EXACT [MONDO:patterns/location] synonym: "carotid artery segment disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "COMMON CAROTID ARTERY DIS" EXACT [] synonym: "Common Carotid Artery Diseases" EXACT [] synonym: "disease of carotid artery segment" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of carotid artery segment" EXACT [] synonym: "disorder of carotid artery" EXACT [DOID:3407] synonym: "disorder of carotid artery (disorder)" EXACT [] synonym: "disorder of carotid artery segment" EXACT [MONDO:patterns/location_top] synonym: "Disorders, Carotid Artery" EXACT [] synonym: "EXTERNAL CAROTID ARTERY DIS" EXACT [] synonym: "External Carotid Artery Diseases" EXACT [] synonym: "INTERNAL CAROTID ARTERY DIS" EXACT [] synonym: "Internal Carotid Artery Diseases" EXACT [] xref: DOID:3407 {source="EFO:0003781", source="MONDO:equivalentTo"} xref: ICD9:447.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10061744 xref: MESH:D002340 {source="EFO:0003781", source="MONDO:equivalentTo", source="DOID:3407"} xref: MeSH:D002340 xref: MONDO:0005269 xref: NCIT:C84476 {source="EFO:0003781", source="MONDO:equivalentTo", source="DOID:3407"} xref: NCIt:C84476 xref: SCTID:371160000 {source="MONDO:equivalentTo", source="DOID:3407"} xref: SNOMEDCT:300920004 xref: UMLS:C0007273 {source="MONDO:equivalentTo", source="DOID:3407", source="NCIT:C84476"} is_a: EFO:0003763 {source="DOID:3407", source="MESH:D002340"} ! cerebrovascular disorder is_a: MONDO:0000473 ! arterial disorder relationship: EFO:0000784 UBERON:0005396 ! has_disease_location carotid artery segment property_value: exactMatch DOID:3407 property_value: exactMatch http://identifiers.org/mesh/D002340 property_value: exactMatch http://identifiers.org/snomedct/371160000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007273 property_value: exactMatch NCIT:C84476 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003782 name: motor neuron disease def: "A disease involving the motor neuron." [MONDO:patterns/location_top] def: "Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98503"} synonym: "ANTERIOR HORN CELL DIS" EXACT [] synonym: "Anterior Horn Cell Disease" EXACT [] synonym: "anterior horn cell disease" EXACT [Orphanet:98503] synonym: "disease of motor neuron" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of motor neuron" EXACT [] synonym: "disorder of motor neuron" EXACT [MONDO:patterns/location_top] synonym: "FAMILIAL MOTOR NEURON DIS" EXACT [] synonym: "Familial Motor Neuron Disease" EXACT [] synonym: "Lateral Scleroses" EXACT [] synonym: "Lateral Sclerosis" EXACT [] synonym: "LOWER MOTOR NEURON DIS" EXACT [] synonym: "Lower Motor Neuron Disease" EXACT [] synonym: "MOTOR NEURON DIS" EXACT [] synonym: "MOTOR NEURON DIS FAMILIAL" EXACT [] synonym: "MOTOR NEURON DIS LOWER" EXACT [] synonym: "MOTOR NEURON DIS SECOND" EXACT [] synonym: "MOTOR NEURON DIS UPPER" EXACT [] synonym: "motor neuron disease" EXACT [MONDO:0005270, MONDO:patterns/location] synonym: "motor neuron disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "Motor Neuron Disease, Familial" EXACT [] synonym: "Motor Neuron Disease, Lower" EXACT [] synonym: "Motor Neuron Disease, Secondary" EXACT [] synonym: "Motor Neuron Disease, Upper" EXACT [] synonym: "Motor Neuron Diseases" EXACT [] synonym: "motor neuron disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "MOTOR SYSTEM DIS" EXACT [] synonym: "Motor System Disease" EXACT [] synonym: "Motor System Diseases" EXACT [] synonym: "Neuron Disease, Motor" EXACT [] synonym: "Neuron Diseases, Motor" EXACT [] synonym: "Scleroses, Lateral" EXACT [] synonym: "Scleroses, Primary Lateral" EXACT [] synonym: "Sclerosis, Lateral" EXACT [] synonym: "SECOND MOTOR NEURON DIS" EXACT [] synonym: "Secondary Motor Neuron Disease" EXACT [] synonym: "UPPER MOTOR NEURON DIS" EXACT [] synonym: "Upper Motor Neuron Disease" EXACT [] xref: DOID:231 {source="EFO:0003782", source="MONDO:equivalentTo"} xref: ICD10CM:G12.2 {source="Orphanet:98503", source="MONDO:equivalentTo", source="DOID:231", source="Orphanet:98503/e"} xref: ICD9:335.2 {source="EFO:0003782", source="DOID:231"} xref: ICD9:335.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:335.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10028002 xref: MedDRA:10028003 {source="Orphanet:98503", source="Orphanet:98503/e"} xref: MESH:D016472 {source="EFO:0003782", source="Orphanet:98503", source="MONDO:equivalentTo", source="DOID:231", source="Orphanet:98503/e"} xref: MeSH:D016472 xref: MONDO:0020128 xref: Orphanet:98503 {source="MONDO:equivalentTo"} xref: SCTID:37340000 {source="EFO:0003782", source="MONDO:equivalentTo", source="DOID:231"} xref: SNOMEDCT:37340000 is_a: EFO:0005772 {source="DOID:231", source="EFO:0003782", source="https://github.com/monarch-initiative/mondo/issues/1588"} ! neurodegenerative disease is_a: EFO:1001902 {source="MESH:D016472", source="Orphanet:98503"} ! neuromuscular disease relationship: EFO:0000784 CL:0000100 ! has_disease_location motor neuron property_value: closeMatch http://identifiers.org/meddra/10028003 property_value: exactMatch DOID:231 property_value: exactMatch http://identifiers.org/mesh/D016472 property_value: exactMatch http://identifiers.org/snomedct/37340000 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G12.2 property_value: exactMatch Orphanet:98503 property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003783 name: progressive bulbar palsy def: "A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. The adult form of the disease is marked initially by bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Eventually this condition may become indistinguishable from AMYOTROPHIC LATERAL SCLEROSIS. Fazio-Londe syndrome is an inherited form of this illness which occurs in children and young adults. (Adams et al., Principles of Neurology, 6th ed, p1091; Brain 1992 Dec;115(Pt 6):1889-1900)" [] def: "Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability). Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS). Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms." [https://rarediseases.info.nih.gov/diseases/10928/progressive-bulbar-palsy] subset: gard_rare {source="GARD:0010928"} synonym: "Bulbar Palsies" EXACT [] synonym: "Bulbar Palsies, Progressive" EXACT [] synonym: "Bulbar palsy" EXACT [] synonym: "Bulbar Palsy, Progressive" EXACT [] synonym: "bulbar palsy, progressive, of childhood" NARROW [OMIM:211500] synonym: "Bulbar Paralyses" EXACT [] synonym: "Bulbar Paralysis" EXACT [] synonym: "Childhood Progressive Bulbar Palsy" EXACT [] synonym: "Fazio Londe Syndrome" EXACT [] synonym: "Fazio-Londe disease" NARROW [OMIM:211500] synonym: "Fazio-Londe Syndrome" EXACT [] synonym: "Palsies, Bulbar" EXACT [] synonym: "Palsies, Progressive Bulbar" EXACT [] synonym: "Palsy, Bulbar" EXACT [] synonym: "Palsy, Progressive Bulbar" EXACT [] synonym: "Paralysis, Bulbar" EXACT [] synonym: "progressive bulbar atrophy" RELATED [GARD:0010928] synonym: "Progressive Bulbar Palsies" EXACT [] synonym: "progressive bulbar palsy" EXACT [] {comment="preferred label from MONDO"} synonym: "progressive bulbar palsy (disorder)" EXACT [] synonym: "Progressive Bulbar Palsy of Childhood" EXACT [] synonym: "Syndrome, Fazio-Londe" EXACT [] xref: DOID:681 {source="EFO:0003783", source="MONDO:equivalentTo"} xref: ICD10CM:G12.22 {source="MONDO:equivalentTo", source="DOID:681"} xref: ICD9:335.22 {source="EFO:0003783", source="DOID:681"} xref: MedDRA:10036800 xref: MESH:D010244 {source="EFO:0003783", source="MONDO:equivalentTo", source="DOID:681"} xref: MeSH:D010244 xref: MONDO:0008890 xref: NCIT:C85026 {source="EFO:0003783", source="MONDO:equivalentTo", source="DOID:681"} xref: NCIt:C85026 xref: OMIM:211500 xref: SCTID:54304004 {source="EFO:0003783", source="MONDO:equivalentTo", source="DOID:681"} xref: SNOMEDCT:54304004 xref: UMLS:C0030442 {source="MONDO:equivalentTo", source="DOID:681", source="NCIT:C85026"} is_a: EFO:0005774 ! brain disease is_a: EFO:0009489 {source="NCIT:C85026"} ! cranial nerve palsy is_a: EFO:1000631 {source="EFO:0003783"} ! palsy is_a: MONDO:0008891 {source="https://ghr.nlm.nih.gov/condition/riboflavin-transporter-deficiency-neuronopathy"} ! riboflavin transporter deficiency relationship: EFO:0000784 CL:0000100 ! has_disease_location motor neuron property_value: exactMatch DOID:681 property_value: exactMatch http://identifiers.org/mesh/D010244 property_value: exactMatch http://identifiers.org/snomedct/54304004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030442 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G12.22 property_value: exactMatch NCIT:C85026 property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/127 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10928/progressive-bulbar-palsy xsd:anyURI {source="GARD:0010928"} [Term] id: EFO:0003784 name: skin pigmentation def: "Coloration of the skin." [] synonym: "Pigmentation, Skin" EXACT [] synonym: "Pigmentations, Skin" EXACT [] synonym: "Skin Pigmentations" EXACT [] xref: MedDRA:10040910 xref: MeSH:D012880 xref: NCIt:C35026 xref: SNOMEDCT:370172004 xref: SNOMEDCT:38962007 is_a: EFO:0000651 ! phenotype property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003785 name: obsolete_allergy def: "Allergy is any exaggerated immune response to a foreign antigen regardless of mechanism. Thus it includes atopy.\nSource: Merck Manual" [] def: "Altered reactivity to an antigen, which can result in pathologic reactions upon subsequent exposure to that particular antigen." [] def: "An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." [] synonym: "Allergic Reaction" EXACT [] synonym: "Allergic Reactions" EXACT [] synonym: "Allergies" EXACT [] synonym: "Hypersensitivities" EXACT [] synonym: "hypersensitivity" EXACT [] synonym: "hypersensitivity reaction type I disease" EXACT [] synonym: "Reaction, Allergic" EXACT [] synonym: "Reactions, Allergic" EXACT [] xref: DOID:1205 xref: MedDRA:10001718 xref: MedDRA:10001738 xref: MedDRA:10001752 xref: MeSH:D006967 xref: NCIt:C114476 xref: NCIt:C3114 xref: SNOMEDCT:419076005 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.38.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replaced with Mondo term\nsee https://github.com/ebispot/efo/issues/1381" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/MONDO_0005271 [Term] id: EFO:0003786 name: cytokine xref: NCIt:C20464 xref: SNOMEDCT:75777003 is_a: CHEBI:36080 ! protein relationship: has_role EFO:0003787 ! cytokine role [Term] id: EFO:0003787 name: cytokine role is_a: CHEBI:24432 ! biological role is_a: CHEBI:51086 ! chemical role relationship: characteristic_of EFO:0003786 ! cytokine [Term] id: EFO:0003788 name: gene expression protocol def: "A gene expression protocol is a protocol which is designed to be used in a gene expression experiment performed on arrays or by high throughput sequencing." [] is_a: OBI:0000272 ! protocol property_value: ArrayExpress:label "ArrayExpress protocol" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0003789 name: growth protocol def: "A growth protocol is a protocol which provides instructions on the growth of a biological sample. E.g. the growth of a specific cell line or Drosophila culture" [] is_a: OBI:0000272 ! protocol property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0003790 name: hybridization protocol def: "A hybridization protocol is the set of instructions or plan for performing a nucleic acid hybridization on an microarray such as those provided by Affymetrix" [] synonym: "microarray hybridization protocol" EXACT [] is_a: OBI:0000272 ! protocol property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0003791 name: interleukin (Homo sapiens) is_a: EFO:0004100 ! interleukin relationship: has_role EFO:0003787 ! cytokine role relationship: RO:0001000 NCBITaxon:9606 ! derives_from Homo sapiens [Term] id: EFO:0003792 name: interleukin (Mus musculus) is_a: EFO:0004100 ! interleukin relationship: has_role EFO:0003787 ! cytokine role relationship: RO:0001000 NCBITaxon:10090 ! derives_from Mus musculus property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0003793 name: interleukin (Rattus norvegicus) is_a: EFO:0004100 ! interleukin relationship: has_role EFO:0003787 ! cytokine role relationship: RO:0001000 NCBITaxon:10116 ! derives_from Rattus norvegicus property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0003794 name: interleukin-1 beta (Homo sapiens) synonym: "IL-1beta" EXACT [] is_a: EFO:0004100 ! interleukin relationship: RO:0001000 NCBITaxon:9606 ! derives_from Homo sapiens property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0003795 name: interleukin-1 beta (Mus musculus) synonym: "IL-1beta" EXACT [] synonym: "mIL-1b" EXACT [] is_a: EFO:0004100 ! interleukin relationship: RO:0001000 NCBITaxon:10090 ! derives_from Mus musculus property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0003796 name: interleukin-1 beta (Rattus norvegicus) synonym: "rIL-1b" EXACT [] is_a: EFO:0004100 ! interleukin relationship: RO:0001000 NCBITaxon:10116 ! derives_from Rattus norvegicus property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0003797 name: interleukin-13 (Homo sapiens) synonym: "IL-13" EXACT [] is_a: EFO:0004100 ! interleukin relationship: RO:0001000 NCBITaxon:9606 ! derives_from Homo sapiens property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0003798 name: interleukin-13 (Mus musculus) synonym: "mIL-13" EXACT [] is_a: EFO:0004100 ! interleukin relationship: RO:0001000 NCBITaxon:10090 ! derives_from Mus musculus property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0003799 name: interleukin-14 (Mus musculus) synonym: "mIL-14" EXACT [] is_a: EFO:0004100 ! interleukin relationship: RO:0001000 NCBITaxon:10090 ! derives_from Mus musculus property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0003800 name: interleukin-17 (Mus musculus) synonym: "mIL-17" EXACT [] is_a: EFO:0004100 ! interleukin relationship: RO:0001000 NCBITaxon:10090 ! derives_from Mus musculus property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0003801 name: interleukin-19 (Homo sapiens) synonym: "IL-19" EXACT [] is_a: EFO:0004100 ! interleukin relationship: RO:0001000 NCBITaxon:9606 ! derives_from Homo sapiens property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0003802 name: refractory anemia def: "A myelodysplastic syndrome characterized by dysplasia seen in at least 10% of the early cells of 1 cell type (either red blood cells, white blood cells, or megakaryocytes) in the bone marrow." [doi:10.5772/intechopen.82532, https://orcid.org/0000-0002-4142-7153] def: "A myelodysplastic syndrome characterized mainly by dysplasia of the erythroid series. Refractory anemia is uncommon. It is primarily a disease of older adults. The median survival exceeds 5 years. (WHO, 2001)" [NCIT:C2872] comment: This disease was reclassified by the World Health Organization (WHO) in 2016. It was referred to as refractory cytopenia with unilineage dysplasia (RCUD) in the previous classification system. It includes refractory anemia (unilineage erythroid dysplasia), refractory neutropenia (unilineage dysgranulopoiesis), and refractory thrombocytopenia (unilineage dysmegakaryocytopoiesis). subset: ordo_disease {source="Orphanet:98826"} synonym: "aregenerative anaemia" RELATED OMO:0003005 [] synonym: "aregenerative anemia" EXACT [NCIT:C2872] synonym: "aregenerative anemia" RELATED [NCIT:C2872] synonym: "MDS with single lineage dysplasia" EXACT ABBREVIATION [doi:10.5772/intechopen.82532] synonym: "MDS-SLD" EXACT ABBREVIATION [doi:10.5772/intechopen.82532] synonym: "myelodysplastic syndrome with single lineage dysplasia" EXACT [] {comment="preferred label from MONDO"} synonym: "RA" EXACT ABBREVIATION [NCIT:C2872] synonym: "refractory anaemia" EXACT OMO:0003005 [] synonym: "refractory anemia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "refractory anemia" EXACT [NCIT:C2872] xref: EFO:0003802 {source="MONDO:equivalentTo"} xref: ICD10:D46.7 {source="ORDO:98826/ntbt", source="Orphanet:98826"} xref: ICD9:238.72 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:238.72 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9980/3 {source="NCIT:C2872"} xref: MedDRA:10038269 {source="ORDO:98826/e", source="Orphanet:98826"} xref: MedDRA:10038269 {source="Orphanet:98826", source="Orphanet:98826/e"} xref: MESH:D000753 {source="MONDO:equivalentTo", source="Orphanet:98826", source="Orphanet:98826/e"} xref: MESH:D000753 {source="MONDO:equivalentTo", source="ORDO:98826/e", source="Orphanet:98826"} xref: MONDO:0005272 xref: NCIT:C2872 {source="MONDO:equivalentTo", source="EFO:0003802"} xref: NCIT:C82591 {source="MONDO:equivalentTo"} xref: Orphanet:98826 {source="MONDO:equivalentTo"} xref: SCTID:109996008 {source="MONDO:equivalentTo"} xref: SCTID:109996008 {source="MONDO:mondoIsBroaderThanSource"} xref: SCTID:1153345005 {source="MONDO:equivalentTo"} xref: UMLS:C0002893 {source="NCIT:C2872", source="Orphanet:98826", source="MONDO:mondoIsBroaderThanSource", source="Orphanet:98826/e"} xref: UMLS:C0002893 {source="MONDO:equivalentTo", source="ORDO:98826/e", source="NCIT:C2872", source="Orphanet:98826"} xref: UMLS:C2826318 {source="MONDO:equivalentTo"} is_a: EFO:0000198 {source="EFO:0003802", source="MONDO:Redundant", source="NCIT:C2872/inferred", source="Orphanet:98826/inferred"} ! myelodysplastic syndrome property_value: closeMatch http://identifiers.org/meddra/10038269 property_value: closeMatch http://identifiers.org/snomedct/128845005 property_value: exactMatch http://identifiers.org/meddra/10038269 property_value: exactMatch http://identifiers.org/mesh/D000753 property_value: exactMatch http://identifiers.org/mesh/D000753 property_value: exactMatch http://identifiers.org/snomedct/109996008 property_value: exactMatch http://identifiers.org/snomedct/1153345005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002893 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2826318 property_value: exactMatch NCIT:C2872 property_value: exactMatch NCIT:C2872 property_value: exactMatch NCIT:C82591 property_value: exactMatch Orphanet:98826 property_value: excluded_subClassOf MONDO:0019453 {source="Orphanet:98826"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5268 xsd:anyURI property_value: narrowMatch http://identifiers.org/snomedct/109996008 property_value: narrowMatch http://linkedlifedata.com/resource/umls/id/C0002893 [Term] id: EFO:0003803 name: interleukin-20 (Homo sapiens) synonym: "IL-20" EXACT [] is_a: EFO:0004100 ! interleukin relationship: RO:0001000 NCBITaxon:9606 ! derives_from Homo sapiens property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0003804 name: interleukin-21 (Mus musculus) synonym: "mIL-21" EXACT [] is_a: EFO:0004100 ! interleukin relationship: RO:0001000 NCBITaxon:10090 ! derives_from Mus musculus property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0003805 name: interleukin-24 (Homo sapiens) synonym: "IL-24" EXACT [] is_a: EFO:0004100 ! interleukin relationship: RO:0001000 NCBITaxon:9606 ! derives_from Homo sapiens property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0003806 name: interleukin-26 (Homo sapiens) synonym: "IL-26" EXACT [] is_a: EFO:0004100 ! interleukin relationship: RO:0001000 NCBITaxon:9606 ! derives_from Homo sapiens property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0003807 name: interleukin-33 (Rattus norvegicus) synonym: "rIL-33" EXACT [] is_a: EFO:0004100 ! interleukin relationship: RO:0001000 NCBITaxon:10116 ! derives_from Rattus norvegicus property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0003808 name: labelling protocol def: "A labelling protocol is a set of instructions or plan which is realised" [] synonym: "labeling protocol" EXACT [] is_a: OBI:0000272 ! protocol property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0003809 name: sample treatment protocol def: "A sample treatment protocol is a protocol used in a biological experiment and defines instructions on how a sample should be treated in a given experimental scenario." [] is_a: EFO:0003969 ! treatment protocol property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0003810 name: interleukin-22 (Homo sapiens) synonym: "IL-22" EXACT [] is_a: EFO:0004100 ! interleukin relationship: RO:0001000 NCBITaxon:9606 ! derives_from Homo sapiens property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0003811 name: refractory anemia with excess blasts def: "A myelodysplastic syndrome characterized by the presence of 5-19% myeloblasts in the bone marrow or 2-19% blasts in the peripheral blood. It includes two categories: myelodysplastic syndrome with excess blasts-1 and myelodysplastic syndrome with excess blasts-2." [NCIT:C7506] subset: ordo_disease {source="Orphanet:86839"} synonym: "MDS-EB" EXACT [NCIT:C7506] synonym: "myelodysplastic syndrome with Excess blasts" EXACT [NCIT:C7506] synonym: "myelodysplastic syndrome with excess blasts" EXACT [] {comment="preferred label from MONDO"} synonym: "myelodysplastic syndrome with excess blasts" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "RAEB" EXACT ABBREVIATION [NCIT:C7506] synonym: "refractory Anaemia with an Excess of blasts" EXACT OMO:0003005 [] synonym: "refractory Anaemia with Excess blasts" EXACT OMO:0003005 [] synonym: "refractory Anemia with an Excess of blasts" EXACT [NCIT:C7506] synonym: "refractory Anemia with Excess blasts" EXACT [NCIT:C7506] xref: COHD:136949 {source="MONDO:equivalentTo"} xref: EFO:0003811 {source="MONDO:equivalentTo"} xref: ICD10:D46.2 {source="ORDO:86839/ntbt", source="Orphanet:86839"} xref: ICDO:9983/3 {source="NCIT:C7506"} xref: MedDRA:10038270 {source="Orphanet:86839/e", source="Orphanet:86839"} xref: MedDRA:10038270 {source="ORDO:86839/e", source="Orphanet:86839"} xref: MESH:D000754 {source="MONDO:equivalentTo", source="ORDO:86839/e", source="Orphanet:86839"} xref: MESH:D000754 {source="Orphanet:86839/e", source="MONDO:equivalentTo", source="Orphanet:86839"} xref: MONDO:0019454 xref: NCIT:C7506 {source="MONDO:equivalentTo", source="EFO:0003811"} xref: Orphanet:86839 {source="MONDO:equivalentTo"} xref: SCTID:398623004 {source="MONDO:equivalentTo"} xref: UMLS:C0002894 {source="Orphanet:86839/e", source="MONDO:equivalentTo", source="NCIT:C7506", source="Orphanet:86839"} xref: UMLS:C0002894 {source="MONDO:equivalentTo", source="ORDO:86839/e", source="NCIT:C7506", source="Orphanet:86839"} is_a: EFO:0000198 {source="EFO:0003811", source="NCIT:C7506", source="Orphanet:86839"} ! myelodysplastic syndrome is_a: MONDO:0044881 ! hematopoietic and lymphoid cell neoplasm property_value: closeMatch http://identifiers.org/meddra/10038270 property_value: closeMatch http://identifiers.org/snomedct/128847002 property_value: exactMatch http://identifiers.org/meddra/10038270 property_value: exactMatch http://identifiers.org/mesh/D000754 property_value: exactMatch http://identifiers.org/mesh/D000754 property_value: exactMatch http://identifiers.org/snomedct/398623004 property_value: exactMatch http://identifiers.org/snomedct/398623004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002894 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002894 property_value: exactMatch NCIT:C7506 property_value: exactMatch NCIT:C7506 property_value: exactMatch Orphanet:86839 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5268 xsd:anyURI [Term] id: EFO:0003812 name: refractory anemia with ringed sideroblasts alt_id: MONDO:0005274 def: "Acquired idiopathic sideroblastic anaemia is one of a group of disorders known as the myelodysplastic syndromes (MDS) characterised by ineffective haemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukaemia. Acquired idiopathic sideroblastic anaemia is now more commonly referred to as refractory anaemia with ringed sideroblasts or the acronym RARS." [Orphanet:75564] def: "Acquired idiopathic sideroblastic anemia is one of a group of disorders known as the myelodysplastic syndromes (MDS) characterized by ineffective haemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukemia. Acquired idiopathic sideroblastic anemia is now more commonly referred to as refractory anemia with ringed sideroblasts or the acronym RARS." [Orphanet:75564] subset: ordo_disease {source="Orphanet:75564"} synonym: "acquired idiopathic sideroblastic anaemia" EXACT OMO:0003005 [] synonym: "acquired idiopathic sideroblastic anemia" EXACT [Orphanet:75564] synonym: "acquired idiopathic sideroblastic anemia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "AISA" EXACT ABBREVIATION [Orphanet:75564] synonym: "MDS with ring sideroblasts" EXACT ABBREVIATION [doi:10.5772/intechopen.82532] synonym: "MDS-RS" EXACT [NCIT:C4036] synonym: "MDS-RS" EXACT ABBREVIATION [NCIT:C4036] synonym: "myelodysplastic syndrome with Ring sideroblasts" EXACT [NCIT:C4036] synonym: "myelodysplastic syndrome with ring sideroblasts" EXACT [] {comment="preferred label from MONDO"} synonym: "primary acquired sideroblastic anaemia" EXACT OMO:0003005 [] synonym: "primary acquired sideroblastic anemia" EXACT [Orphanet:75564] synonym: "Pure sideroblastic Anaemia" EXACT OMO:0003005 [] synonym: "Pure sideroblastic Anemia" EXACT [NCIT:C4036] synonym: "RARS" EXACT ABBREVIATION [NCIT:C4036, Orphanet:75564] synonym: "refractory Anaemia with Ring sideroblasts" EXACT OMO:0003005 [] synonym: "refractory Anaemia with ringed sideroblasts" EXACT OMO:0003005 [] synonym: "refractory anaemia with ringed sideroblasts" EXACT OMO:0003005 [] synonym: "refractory Anemia with Ring sideroblasts" EXACT [NCIT:C4036] synonym: "refractory Anemia with ringed sideroblasts" EXACT [NCIT:C4036] synonym: "refractory anemia with ringed sideroblasts" EXACT [Orphanet:75564] xref: EFO:0003812 {source="MONDO:equivalentTo"} xref: ICD10:D64.3 {source="Orphanet:75564", source="ORDO:75564/ntbt"} xref: ICD9:238.72 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:238.72 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9982/3 {source="NCIT:C4036"} xref: MONDO:0019157 xref: NCIT:C4036 {source="MONDO:equivalentTo", source="EFO:0003812"} xref: Orphanet:75564 {source="MONDO:equivalentTo"} xref: SCTID:109998009 {source="MONDO:equivalentTo"} is_a: EFO:0000198 {source="EFO:0003812", source="NCIT:C4036", source="Orphanet:75564"} ! myelodysplastic syndrome is_a: MONDO:0015194 {source="Orphanet:75564"} ! sideroblastic anemia is_a: MONDO:0020099 ! inherited sideroblastic anemia is_a: MONDO:0700007 ! idiopathic disease property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1264195 property_value: exactMatch http://identifiers.org/snomedct/109998009 property_value: exactMatch http://identifiers.org/snomedct/109998009 property_value: exactMatch NCIT:C4036 property_value: exactMatch NCIT:C4036 property_value: exactMatch Orphanet:75564 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5268 xsd:anyURI [Term] id: EFO:0003813 name: nucleic acid labeling protocol def: "A protocol description in which input nucleic acid material is labeled." [] is_a: EFO:0003788 ! gene expression protocol is_a: EFO:0003808 ! labelling protocol relationship: http://www.ebi.ac.uk/efo/is_executed_in EFO:0000562 ! labelling property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003814 name: array scanning and feature extraction protocol def: "A protocol describing an image acquisition process that generates an image and features extracted in numerical form from an array." [] is_a: EFO:0003788 ! gene expression protocol property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003815 name: nucleic acid hybridization to array protocol def: "A protocol describing the hybridisation of the target nucleic acid sample to a fixed probe on the array." [] is_a: EFO:0003788 ! gene expression protocol is_a: EFO:0003790 ! hybridization protocol relationship: http://www.ebi.ac.uk/efo/is_executed_in OBI:0302903 ! nucleic acid hybridization property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003816 name: normalization data transformation protocol def: "A protocol describing a data transformation in which data transformation has the objective normalization." [] is_a: EFO:0003788 ! gene expression protocol relationship: http://www.ebi.ac.uk/efo/is_executed_in OBI:0200169 ! normalization data transformation property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003817 name: laryngeal neoplasm def: "A benign or malignant neoplasm involving the larynx." [NCIT:C3156] def: "Cancers or tumors of the LARYNX or any of its parts: the GLOTTIS; EPIGLOTTIS; LARYNGEAL CARTILAGES; LARYNGEAL MUSCLES; and VOCAL CORDS." [] synonym: "Cancer of Larynx" EXACT [] synonym: "Cancer of the Larynx" EXACT [] synonym: "Cancer, Laryngeal" EXACT [] synonym: "Cancer, Larynx" EXACT [] synonym: "Cancers, Laryngeal" EXACT [] synonym: "Cancers, Larynx" EXACT [] synonym: "Laryngeal Cancer" EXACT [] synonym: "Laryngeal Cancers" EXACT [] synonym: "LARYNGEAL NEOPL" EXACT [] synonym: "laryngeal neoplasm" EXACT [NCIT:C3156] synonym: "laryngeal neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "Laryngeal Neoplasms" EXACT [] synonym: "laryngeal tumor" EXACT [NCIT:C3156] synonym: "laryngeal tumour" EXACT OMO:0003005 [] synonym: "Larynx Cancer" EXACT [] synonym: "Larynx Cancers" EXACT [] synonym: "LARYNX NEOPL" EXACT [] synonym: "Larynx Neoplasm" EXACT [] synonym: "larynx neoplasm" EXACT [NCIT:C3156] synonym: "larynx neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "Larynx Neoplasms" EXACT [] synonym: "larynx tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3156] synonym: "larynx tumour" EXACT OMO:0003005 [] synonym: "NEOPL LARYNGEAL" EXACT [] synonym: "neoplasm of larynx" EXACT [MONDO:patterns/neoplasm, NCIT:C3156] synonym: "neoplasm of the larynx" EXACT [NCIT:C3156] synonym: "Neoplasm, Laryngeal" EXACT [] synonym: "Neoplasm, Larynx" EXACT [] synonym: "Neoplasms, Laryngeal" EXACT [] synonym: "Neoplasms, Larynx" EXACT [] synonym: "tumor of larynx" EXACT [MONDO:patterns/neoplasm, NCIT:C3156] synonym: "tumor of the larynx" EXACT [NCIT:C3156] synonym: "tumour of larynx" EXACT OMO:0003005 [] synonym: "tumour of the larynx" EXACT OMO:0003005 [] xref: DOID:2596 xref: MedDRA:10023841 xref: MedDRA:10028995 xref: MESH:D007822 {source="MONDO:equivalentTo"} xref: MeSH:D007822 xref: MONDO:0021071 xref: NCIT:C3156 {source="MONDO:equivalentTo"} xref: NCIt:C3156 xref: SCTID:126692004 {source="MONDO:equivalentTo"} xref: UMLS:C0023055 {source="MONDO:equivalentTo", source="NCIT:C3156"} is_a: EFO:0003853 ! respiratory system neoplasm is_a: EFO:0009673 {source="MESH:D007822", source="MONDO:Redundant", source="NCIT:C3156"} ! laryngeal disease property_value: exactMatch http://identifiers.org/mesh/D007822 property_value: exactMatch http://identifiers.org/snomedct/126692004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023055 property_value: exactMatch NCIT:C3156 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003818 name: lung disease def: "A disease involving the lung." [https://orcid.org/0000-0002-6601-2165] def: "Pathological processes involving any part of the LUNG." [] synonym: "DIS PULM" EXACT [] synonym: "disease of lung" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of lung" EXACT [] synonym: "Disease, Lung" EXACT [] synonym: "Disease, Pulmonary" EXACT [] synonym: "Diseases, Lung" EXACT [] synonym: "Diseases, Pulmonary" EXACT [] synonym: "disorder of lung" EXACT [MONDO:patterns/location_top] synonym: "LUNG DIS" EXACT [] synonym: "lung disease" EXACT [MONDO:patterns/location] synonym: "lung disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "Lung Diseases" EXACT [] synonym: "lung disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "lung disorders" EXACT [NCIT:C3198] synonym: "PULM DIS" EXACT [] synonym: "Pulmonary Disease" EXACT [] synonym: "pulmonary disease" EXACT [] synonym: "Pulmonary Diseases" EXACT [] synonym: "pulmonary diseases" EXACT [NCIT:C3198] synonym: "pulmonary disorder" EXACT [NCIT:C3198] synonym: "pulmonary disorders" EXACT [NCIT:C3198] xref: DOID:850 {source="MONDO:equivalentTo", source="EFO:0003818"} xref: ICD9:518.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10051054 xref: MESH:D008171 {source="MONDO:equivalentTo", source="EFO:0003818", source="DOID:850"} xref: MeSH:D008171 xref: MONDO:0005275 xref: NCIT:C3198 {source="MONDO:equivalentTo", source="DOID:850"} xref: SCTID:19829001 {source="MONDO:equivalentTo", source="DOID:850"} is_a: EFO:0009433 {source="DOID:850", source="MONDO:Redundant"} ! lower respiratory tract disease property_value: exactMatch DOID:850 property_value: exactMatch http://identifiers.org/mesh/D008171 property_value: exactMatch http://identifiers.org/snomedct/19829001 property_value: exactMatch NCIT:C3198 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003819 name: dental caries def: "Localized destruction of the tooth surface initiated by decalcification of the enamel followed by enzymatic lysis of organic structures and leading to cavity formation. If left unchecked, the cavity may penetrate the enamel and dentin and reach the pulp. The three most prominent theories used to explain the etiology of the disease are that acids produced by bacteria lead to decalcification; that micro-organisms destroy the enamel protein; or that keratolytic micro-organisms produce chelates that lead to decalcification." [] def: "The decay of a tooth, in which it becomes softened, discolored, and/or porous." [NCIT:P378] synonym: "caries" EXACT [] synonym: "CARIES DENT" EXACT [] synonym: "Caries, Dental" EXACT [] synonym: "DECAY DENT" EXACT [] synonym: "Decay, Dental" EXACT [] synonym: "DENT CARIES" EXACT [] synonym: "DENT DECAY" EXACT [] synonym: "DENT WHITE SPOT" EXACT [] synonym: "DENT WHITE SPOTS" EXACT [] synonym: "dental caries" EXACT [] {comment="preferred label from MONDO"} synonym: "dental caries extending into pulp" EXACT [DOID:216] synonym: "dental caries of smooth surface" EXACT [DOID:216] synonym: "dental caries pit and fissure" EXACT [DOID:216] synonym: "Dental Decay" EXACT [] synonym: "Dental White Spot" EXACT [] synonym: "Dental White Spots" EXACT [] synonym: "Spot, White" EXACT [] synonym: "Spots, White" EXACT [] synonym: "White Spot" EXACT [] synonym: "WHITE SPOT DENT" EXACT [] synonym: "White Spot, Dental" EXACT [] synonym: "White Spots" EXACT [] synonym: "WHITE SPOTS DENT" EXACT [] synonym: "White Spots, Dental" EXACT [] xref: DOID:216 {source="EFO:0003819", source="MONDO:equivalentTo"} xref: ICD10:K02 xref: ICD10CM:K02 {source="DOID:216", source="MONDO:equivalentTo"} xref: ICD9:521.0 {source="EFO:0003819", source="DOID:216", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:521.00 {source="DOID:216", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:521.06 {source="DOID:216"} xref: ICD9:521.07 {source="DOID:216"} xref: MedDRA:10012318 xref: MESH:D003731 {source="EFO:0003819", source="DOID:216", source="MONDO:equivalentTo"} xref: MeSH:D003731 xref: MONDO:0005276 xref: NCIt:C52593 xref: SCTID:80967001 {source="EFO:0003819", source="DOID:216", source="MONDO:equivalentTo"} xref: SNOMEDCT:80967001 xref: UMLS:C0011334 {source="DOID:216", source="MONDO:equivalentTo"} is_a: EFO:0000524 ! head and neck disorder is_a: MONDO:0002220 {source="DOID:216"} ! tooth hard tissue disease relationship: EFO:0000784 UBERON:0001091 ! has_disease_location calcareous tooth property_value: exactMatch DOID:216 property_value: exactMatch http://identifiers.org/mesh/D003731 property_value: exactMatch http://identifiers.org/snomedct/80967001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011334 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K02 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003820 name: bone neoplasm def: "A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage." [NCIT:C9343] def: "Tumors or cancer located in bone tissue or specific BONES." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:68411"} synonym: "BONE NEOPL" EXACT [] synonym: "bone neoplasm" EXACT [NCIT:C9343] synonym: "bone neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "Bone Neoplasms" EXACT [] synonym: "bone neoplasms" EXACT [NCIT:C9343] synonym: "bone tissue neoplasm" EXACT [] synonym: "bone tissue tumor" EXACT [MONDO:patterns/neoplasm] synonym: "bone tissue tumour" EXACT OMO:0003005 [] synonym: "bone tumor" EXACT [NCIT:C9343] synonym: "bone tumors" EXACT [NCIT:C9343] synonym: "bone tumour" EXACT OMO:0003005 [] synonym: "bone tumours" EXACT OMO:0003005 [] synonym: "NEOPL BONE" EXACT [] synonym: "neoplasm of bone" EXACT [NCIT:C9343] synonym: "neoplasm of bone tissue" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the bone" EXACT [NCIT:C9343] synonym: "Neoplasm, Bone" EXACT [] synonym: "Neoplasms, Bone" EXACT [] synonym: "osseous neoplasm" EXACT [NCIT:C9343] synonym: "osseous tumor" EXACT [NCIT:C9343] synonym: "osseous tumour" EXACT OMO:0003005 [] synonym: "primary bone cancer" RELATED [GARD:0013223] synonym: "primary malignant neoplasm of bone" RELATED [GARD:0013223] synonym: "rare bone tumor" RELATED [Orphanet:68411] synonym: "rare bone tumour" RELATED OMO:0003005 [] synonym: "tumor of bone" EXACT [NCIT:C9343] synonym: "tumor of bone tissue" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the bone" EXACT [NCIT:C9343] synonym: "tumour of bone" EXACT OMO:0003005 [] synonym: "tumour of bone tissue" EXACT OMO:0003005 [] synonym: "tumour of the bone" EXACT OMO:0003005 [] xref: DOID:184 xref: ICD10:D16 xref: ICD10CM:C40-C41 {source="MONDO:relatedTo", source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: MedDRA:10005995 xref: MeSH:D001859 xref: MONDO:0019060 xref: NCIT:C9343 {source="MONDO:equivalentTo"} xref: NCIt:C9343 xref: ONCOTREE:BONE {source="MONDO:equivalentTo"} xref: Orphanet:68411 {source="MONDO:equivalentTo"} is_a: EFO:0004260 {source="MONDO:Redundant", source="Orphanet:68411"} ! bone disease is_a: MONDO:0021581 ! connective tissue neoplasm relationship: has_characteristic MONDO:0021136 {source="MONDO:0019684", source="MONDO:0020031"} ! rare property_value: exactMatch NCIT:C9343 property_value: exactMatch Orphanet:68411 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: relatedMatch http://purl.bioontology.org/ontology/ICD10CM/C40-C41 [Term] id: EFO:0003821 name: obsolete_migraine disorder def: "A class of disabling primary headache disorders, characterized by recurrent unilateral pulsatile headaches. The two major subtypes are common migraine (without aura) and classic migraine (with aura or neurological symptoms). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)" [] synonym: "Abdominal Migraine" EXACT [] synonym: "Abdominal Migraines" EXACT [] synonym: "Acute Confusional Migraine" EXACT [] synonym: "Acute Confusional Migraines" EXACT [] synonym: "Cervical Migraine Syndrome" EXACT [] synonym: "Cervical Migraine Syndromes" EXACT [] synonym: "Disorder, Migraine" EXACT [] synonym: "Disorders, Migraine" EXACT [] synonym: "Headache, Migraine" EXACT [] synonym: "Headache, Sick" EXACT [] synonym: "Headaches, Migraine" EXACT [] synonym: "Headaches, Sick" EXACT [] synonym: "Hemicrania Migraine" EXACT [] synonym: "Hemicrania Migraines" EXACT [] synonym: "Migraine" EXACT [] synonym: "Migraine Disorders" EXACT [] synonym: "Migraine Headache" EXACT [] synonym: "Migraine Headaches" EXACT [] synonym: "Migraine Syndrome, Cervical" EXACT [] synonym: "Migraine Syndromes, Cervical" EXACT [] synonym: "Migraine Variant" EXACT [] synonym: "Migraine Variants" EXACT [] synonym: "Migraine, Abdominal" EXACT [] synonym: "Migraine, Acute Confusional" EXACT [] synonym: "Migraine, Hemicrania" EXACT [] synonym: "Migraines" EXACT [] synonym: "Migraines, Abdominal" EXACT [] synonym: "Migraines, Acute Confusional" EXACT [] synonym: "Migraines, Hemicrania" EXACT [] synonym: "Sick Headache" EXACT [] synonym: "Sick Headaches" EXACT [] synonym: "Status Migrainosus" EXACT [] synonym: "Variant, Migraine" EXACT [] synonym: "Variants, Migraine" EXACT [] xref: DOID:6364 xref: ICD10:G43 xref: ICD9:346 xref: MeSH:D008881 xref: NCIt:C113482 xref: NCIt:C89715 xref: OMIM:157300 xref: OMIM:613656 xref: SNOMEDCT:193028008 xref: SNOMEDCT:193030005 xref: SNOMEDCT:230467008 xref: SNOMEDCT:37796009 xref: SNOMEDCT:75879005 xref: SNOMEDCT:95653008 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.38.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replaced with Mondo term\nsee https://github.com/ebispot/efo/issues/1381" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/MONDO_0005277 [Term] id: EFO:0003822 name: hyperemia def: "The presence of an increased amount of blood in a body part or an organ leading to congestion or engorgement of blood vessels. Hyperemia can be due to increase of blood flow into the area (active or arterial), or due to obstruction of outflow of blood from the area (passive or venous)." [] def: "The presence of an increased amount of blood in a part or organ; engorgement." [] synonym: "Active Hyperemia" EXACT [] synonym: "Arterial Hyperemia" EXACT [] synonym: "Congestion, Venous" EXACT [] synonym: "Engorgement, Venous" EXACT [] synonym: "Hyperemia, Active" EXACT [] synonym: "Hyperemia, Arterial" EXACT [] synonym: "Hyperemia, Passive" EXACT [] synonym: "Hyperemia, Reactive" EXACT [] synonym: "Hyperemias" EXACT [] synonym: "Hyperemias, Reactive" EXACT [] synonym: "Passive Hyperemia" EXACT [] synonym: "Reactive Hyperemia" EXACT [] synonym: "Reactive Hyperemias" EXACT [] synonym: "Venous Congestion" EXACT [] synonym: "Venous Engorgement" EXACT [] xref: ICD9:362.37 xref: MedDRA:10020619 xref: MeSH:D006940 xref: NCIt:C50588 xref: SNOMEDCT:30098003 is_a: EFO:0003765 ! sign or symptom property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003823 name: obsolete_spinal muscular atrophy def: "A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)" [] synonym: "Adult Onset Spinal Muscular Atrophy" EXACT [] synonym: "Adult Spinal Muscular Atrophy" EXACT [] synonym: "Adult-Onset Spinal Muscular Atrophy" EXACT [] synonym: "Atrophies, Progressive Muscular" EXACT [] synonym: "Atrophy, Myelopathic Muscular" EXACT [] synonym: "Atrophy, Progressive Muscular" EXACT [] synonym: "Atrophy, Spinal Muscular" EXACT [] synonym: "Bulbospinal Neuronopathies" EXACT [] synonym: "Bulbospinal Neuronopathy" EXACT [] synonym: "Distal Spinal Muscular Atrophy" EXACT [] synonym: "Muscular Atrophies, Progressive" EXACT [] synonym: "Muscular Atrophy, Adult Spinal" EXACT [] synonym: "Muscular Atrophy, Myelopathic" EXACT [] synonym: "Muscular Atrophy, Progressive" EXACT [] synonym: "Muscular Atrophy, Spinal" EXACT [] synonym: "Myelopathic Muscular Atrophy" EXACT [] synonym: "Myelopathic Muscular Atrophy, Progressive" EXACT [] synonym: "Neuronopathies, Bulbospinal" EXACT [] synonym: "Neuronopathy, Bulbospinal" EXACT [] synonym: "Oculopharyngeal Spinal Muscular Atrophy" EXACT [] synonym: "Progressive Muscular Atrophies" EXACT [] synonym: "Progressive Muscular Atrophy" EXACT [] synonym: "Progressive Myelopathic Muscular Atrophy" EXACT [] synonym: "Progressive Proximal Myelopathic Muscular Atrophy" EXACT [] synonym: "Proximal Myelopathic Muscular Atrophy, Progressive" EXACT [] synonym: "Scapuloperoneal Form of Spinal Muscular Atrophy" EXACT [] synonym: "Spinal Muscular Atrophy, Distal" EXACT [] synonym: "Spinal Muscular Atrophy, Oculopharyngeal" EXACT [] synonym: "Spinal Muscular Atrophy, Scapuloperoneal Form" EXACT [] xref: MeSH:D009134 xref: OMIM:271220 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Reorganised according to Orphanet hierarchy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0003824 name: eye neoplasm def: "A neoplasm (disease) that involves the eye." [MONDO:patterns/location] def: "Tumors or cancer of the EYE." [] synonym: "Cancer of Eye" EXACT [] synonym: "Cancer of the Eye" EXACT [] synonym: "Cancer, Eye" EXACT [] synonym: "Cancers, Eye" EXACT [] synonym: "Eye Cancer" EXACT [] synonym: "Eye Cancers" EXACT [] synonym: "EYE NEOPL" EXACT [] synonym: "eye neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "eye neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "Eye Neoplasms" EXACT [] synonym: "eye tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3030] synonym: "eye tumour" EXACT OMO:0003005 [] synonym: "eyeball of camera-type eye neoplasm" EXACT [] synonym: "eyeball of camera-type eye tumor" EXACT [MONDO:patterns/neoplasm] synonym: "eyeball of camera-type eye tumour" EXACT OMO:0003005 [] synonym: "NEOPL EYE" EXACT [] synonym: "neoplasm of eye" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of eyeball of camera-type eye" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the eye" EXACT [NCIT:C3030] synonym: "Neoplasm, Eye" EXACT [] synonym: "Neoplasms, Eye" EXACT [] synonym: "ocular neoplasm" EXACT [NCIT:C3030] synonym: "ocular tumor" EXACT [NCIT:C3030] synonym: "ocular tumour" EXACT OMO:0003005 [] synonym: "tumor of eye" EXACT [MONDO:patterns/neoplasm, NCIT:C3030] synonym: "tumor of eyeball of camera-type eye" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the eye" EXACT [NCIT:C3030] synonym: "tumour of eye" EXACT OMO:0003005 [] synonym: "tumour of eyeball of camera-type eye" EXACT OMO:0003005 [] synonym: "tumour of the eye" EXACT OMO:0003005 [] xref: ICD10:C69 xref: ICD10CM:C69-C72 {source="MONDO:relatedTo", source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: MeSH:D005134 xref: MONDO:0021220 xref: NCIT:C3030 {source="MONDO:equivalentTo"} xref: NCIt:C3030 xref: ONCOTREE:EYE {source="MONDO:equivalentTo"} is_a: EFO:0003966 {source="MONDO:Redundant", source="NCIT:C3030"} ! eye disease is_a: EFO:0005950 ! head and neck neoplasia relationship: EFO:0000784 UBERON:0000970 ! has_disease_location eye property_value: exactMatch NCIT:C3030 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: relatedMatch http://purl.bioontology.org/ontology/ICD10CM/C69-C72 [Term] id: EFO:0003825 name: serous adenocarcinoma def: "An adenocarcinoma that is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies may be present. Representative examples include cervical serous adenocarcinoma, endometrial serous adenocarcinoma, ovarian serous adenocarcinoma, and primary peritoneal serous adenocarcinoma." [NCIT:C40101] synonym: "serous adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "serous adenocarcinoma" EXACT [DOID:3114, NCIT:C40101] synonym: "serous adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "serous carcinoma" RELATED [DOID:3114] synonym: "serous cystadenocarcinoma" RELATED [DOID:3114] synonym: "serous cystadenocarcinoma, NOS (morphologic abnormality)" RELATED [DOID:3114] xref: DOID:3114 {source="MONDO:equivalentTo", source="EFO:0003825"} xref: EFO:0003825 {source="MONDO:equivalentTo"} xref: MONDO:0005278 xref: NCIT:C40101 {source="DOID:3114", source="MONDO:equivalentTo", source="EFO:0003825"} xref: UMLS:C0206701 {source="DOID:3114", source="MONDO:equivalentTo"} is_a: EFO:0000228 {source="DOID:3114/inferred", source="EFO:0003825", source="NCIT:C40101"} ! adenocarcinoma property_value: closeMatch http://identifiers.org/mesh/D018284 property_value: closeMatch http://identifiers.org/snomedct/189685001 property_value: closeMatch http://identifiers.org/snomedct/90725004 property_value: exactMatch DOID:3114 property_value: exactMatch DOID:3114 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206701 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206701 property_value: exactMatch NCIT:C40101 property_value: exactMatch NCIT:C40101 property_value: excluded_subClassOf MONDO:0005596 {source="DOID:3114"} [Term] id: EFO:0003826 name: salivary gland neoplasm def: "Tumors of the SALIVARY GLANDS." [] synonym: "Gland Neoplasm, Salivary" EXACT [] synonym: "Gland Neoplasms, Salivary" EXACT [] synonym: "NEOPL SALIVARY GLAND" EXACT [] synonym: "Neoplasm, Salivary Gland" EXACT [] synonym: "Neoplasms, Salivary Gland" EXACT [] synonym: "SALIVARY GLAND NEOPL" EXACT [] synonym: "Salivary Gland Neoplasms" EXACT [] xref: DOID:8850 xref: ICD10:D11 xref: MedDRA:10061497 xref: MeSH:D012468 xref: NCIt:C3361 is_a: EFO:0008581 ! salivary gland disease property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003827 name: pulmonary embolism def: "Blocking of the PULMONARY ARTERY or one of its branches by an EMBOLUS." [] def: "The obstruction of the pulmonary artery or one of its branches by an embolus, sometimes associated with infarction of the lung." [NCIT:P378] synonym: "EMBOLISM PULM" EXACT [] synonym: "Embolism, Pulmonary" EXACT [] synonym: "embolism, pulmonary" EXACT [NCIT:C50713] synonym: "EMBOLISMS PULM" EXACT [] synonym: "Embolisms, Pulmonary" EXACT [] synonym: "PULM EMBOLISM" EXACT [] synonym: "PULM EMBOLISMS" EXACT [] synonym: "PULM THROMBOEMBOLISM" EXACT [] synonym: "PULM THROMBOEMBOLISMS" EXACT [] synonym: "pulmonary artery embolism" EXACT [DOID:9477] synonym: "pulmonary embolism" EXACT [MONDO:ambiguous] synonym: "pulmonary embolism" EXACT [] {comment="preferred label from MONDO"} synonym: "pulmonary embolism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Pulmonary Embolisms" EXACT [] synonym: "pulmonary embolus" EXACT [DOID:9477] synonym: "Pulmonary Thromboembolism" EXACT [] synonym: "Pulmonary Thromboembolisms" EXACT [] synonym: "Thromboembolism, Pulmonary" EXACT [] synonym: "THROMBOEMBOLISMS PULM" EXACT [] synonym: "Thromboembolisms, Pulmonary" EXACT [] xref: DOID:9477 {source="MONDO:equivalentTo", source="EFO:0003827"} xref: HP:0002204 {source="MONDO:otherHierarchy"} xref: ICD10:I26 xref: ICD9:415.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10037377 xref: MESH:D011655 {source="MONDO:equivalentTo", source="EFO:0003827", source="DOID:9477"} xref: MeSH:D011655 xref: MONDO:0005279 xref: NCIT:C50713 {source="MONDO:equivalentTo", source="EFO:0003827", source="DOID:9477"} xref: NCIt:C50713 xref: SCTID:59282003 {source="MONDO:equivalentTo", source="EFO:0003827", source="DOID:9477"} xref: SNOMEDCT:59282003 xref: UMLS:C0034065 {source="NCIT:C50713", source="MONDO:equivalentTo", source="DOID:9477"} is_a: MONDO:0000473 {source="DOID:9477"} ! arterial disorder relationship: EFO:0000784 UBERON:0002012 ! has_disease_location pulmonary artery property_value: exactMatch DOID:9477 property_value: exactMatch http://identifiers.org/mesh/D011655 property_value: exactMatch http://identifiers.org/snomedct/59282003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034065 property_value: exactMatch NCIT:C50713 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: IAO:0000589 "pulmonary embolism (disease)" xsd:string [Term] id: EFO:0003828 name: spinal cord neoplasm def: "A neoplasm (disease) that involves the spinal cord." [MONDO:patterns/location] def: "Benign and malignant neoplasms which occur within the substance of the spinal cord (intramedullary neoplasms) or in the space between the dura and spinal cord (intradural extramedullary neoplasms). The majority of intramedullary spinal tumors are primary CNS neoplasms including ASTROCYTOMA; EPENDYMOMA; and LIPOMA. Intramedullary neoplasms are often associated with SYRINGOMYELIA. The most frequent histologic types of intradural-extramedullary tumors are MENINGIOMA and NEUROFIBROMA." [] synonym: "INTRADURAL EXTRAMEDULLARY SPINAL CORD NEOPL" EXACT [] synonym: "Intradural Extramedullary Spinal Cord Neoplasms" EXACT [] synonym: "Intradural-Extramedullary Spinal Cord Neoplasms" EXACT [] synonym: "INTRAMEDULLARY SPINAL CORD NEOPL" EXACT [] synonym: "Intramedullary Spinal Cord Neoplasms" EXACT [] synonym: "Intramedullary Spinal Cord Neoplasms, Primary" EXACT [] synonym: "NEOPL SPINAL CORD" EXACT [] synonym: "neoplasm of spinal cord" EXACT [MONDO:patterns/neoplasm, NCIT:C3381] synonym: "neoplasm of the spinal cord" EXACT [NCIT:C3381] synonym: "Neoplasm, Spinal Cord" EXACT [] synonym: "Neoplasms, Spinal Cord" EXACT [] synonym: "PRIMARY INTRAMEDULLARY SPINAL CORD NEOPL" EXACT [] synonym: "Primary Intramedullary Spinal Cord Neoplasms" EXACT [] synonym: "PRIMARY SPINAL CORD NEOPL INTRAMEDULLARY" EXACT [] synonym: "Primary Spinal Cord Neoplasms, Intramedullary" EXACT [] synonym: "spinal cancer" EXACT [] synonym: "SPINAL CORD NEOPL" EXACT [] synonym: "SPINAL CORD NEOPL BENIGN" EXACT [] synonym: "SPINAL CORD NEOPL INTRADURAL EXTRAMEDULLARY" EXACT [] synonym: "SPINAL CORD NEOPL INTRAMEDULLARY" EXACT [] synonym: "SPINAL CORD NEOPL MALIGNANT" EXACT [] synonym: "SPINAL CORD NEOPL PRIMARY INTRAMEDULLARY" EXACT [] synonym: "spinal cord neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "spinal cord neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "Spinal Cord Neoplasms" EXACT [] synonym: "Spinal Cord Neoplasms, Benign" EXACT [] synonym: "Spinal Cord Neoplasms, Intradural Extramedullary" EXACT [] synonym: "Spinal Cord Neoplasms, Intradural-Extramedullary" EXACT [] synonym: "Spinal Cord Neoplasms, Intramedullary" EXACT [] synonym: "Spinal Cord Neoplasms, Malignant" EXACT [] synonym: "Spinal Cord Neoplasms, Primary Intramedullary" EXACT [] synonym: "Spinal Cord Tumor" EXACT [] synonym: "spinal cord tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3381] synonym: "Spinal Cord Tumors" EXACT [] synonym: "spinal cord tumour" EXACT OMO:0003005 [] synonym: "tumor of spinal cord" EXACT [MONDO:patterns/neoplasm, NCIT:C3381] synonym: "tumor of the spinal cord" EXACT [NCIT:C3381] synonym: "Tumor, Spinal Cord" EXACT [] synonym: "Tumors, Spinal Cord" EXACT [] synonym: "tumour of spinal cord" EXACT OMO:0003005 [] synonym: "tumour of the spinal cord" EXACT OMO:0003005 [] xref: MedDRA:10062261 xref: MESH:D013120 {source="MONDO:equivalentTo"} xref: MeSH:D013120 xref: MONDO:0021234 xref: NCIT:C3381 {source="MONDO:equivalentTo"} xref: NCIt:C3381 xref: UMLS:C0037930 {source="NCIT:C3381", source="MONDO:equivalentTo"} is_a: EFO:0009488 ! spinal cord disease is_a: EFO:1000158 {source="MONDO:Redundant", source="NCIT:C3381/inferred"} ! Central Nervous System Neoplasm property_value: exactMatch http://identifiers.org/mesh/D013120 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037930 property_value: exactMatch NCIT:C3381 property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003829 name: obsolete_alcohol dependence def: "A primary, chronic disease with genetic, psychosocial, and environmental factors influencing its development and manifestations. The disease is often progressive and fatal. It is characterized by impaired control over drinking, preoccupation with the drug alcohol, use of alcohol despite adverse consequences, and distortions in thinking, most notably denial. Each of these symptoms may be continuous or periodic. (Morse & Flavin for the Joint Commission of the National Council on Alcoholism and Drug Dependence and the American Society of Addiction Medicine to Study the Definition and Criteria for the Diagnosis of Alcoholism: in JAMA 1992;268:1012-4)" [] def: "Disorders related to or resulting from abuse or mis-use of alcohol." [] synonym: "Abuse, Alcohol" EXACT [] synonym: "Alcohol Abuse" EXACT [] synonym: "ALCOHOLIC INTOX CHRONIC" EXACT [] synonym: "Alcoholic Intoxication, Chronic" EXACT [] synonym: "alcoholism" EXACT [] synonym: "Chronic Alcoholic Intoxication" EXACT [] synonym: "Intoxication, Chronic Alcoholic" EXACT [] xref: DOID:0050741 xref: ICD10:F10 xref: ICD9:305.0 xref: MeSH:D000437 xref: MeSH:D019973 xref: MeSH:D020751 xref: NCIt:C93040 xref: OMIM:103780 xref: SNOMEDCT:66590003 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.38.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replaced with Mondo term\nsee https://github.com/ebispot/efo/issues/1381" xsd:string property_value: IAO:0000117 "Gautier Koscielny" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/MONDO_0007079 [Term] id: EFO:0003830 name: prostatitis def: "An infectious or non-infectious inflammatory process affecting the prostate gland." [NCIT:P378] def: "Infiltration of inflammatory cells into the parenchyma of PROSTATE. The subtypes are classified by their varied laboratory analysis, clinical presentation and response to treatment." [] synonym: "Acute Bacterial Prostatitides" EXACT [] synonym: "Acute Bacterial Prostatitis" EXACT [] synonym: "Asymptomatic Inflammatory Prostatitides" EXACT [] synonym: "Asymptomatic Inflammatory Prostatitis" EXACT [] synonym: "Bacterial Prostatitides, Acute" EXACT [] synonym: "Bacterial Prostatitides, Chronic" EXACT [] synonym: "Bacterial Prostatitis, Acute" EXACT [] synonym: "Bacterial Prostatitis, Chronic" EXACT [] synonym: "Chronic Bacterial Prostatitides" EXACT [] synonym: "Chronic Bacterial Prostatitis" EXACT [] synonym: "Chronic Prostatitis with Chronic Pelvic Pain Syndrome" EXACT [] synonym: "inflammation of prostate gland" EXACT [] synonym: "Inflammatory Prostatitis, Asymptomatic" EXACT [] synonym: "prostate gland inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "Prostatitides" EXACT [] synonym: "Prostatitides, Chronic Bacterial" EXACT [] synonym: "prostatitis" EXACT [] {comment="preferred label from MONDO"} synonym: "prostatitis" EXACT [MONDO:ambiguous] synonym: "prostatitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:14654 {source="EFO:0003830", source="MONDO:equivalentTo"} xref: HP:0000024 {source="MONDO:otherHierarchy"} xref: ICD10:N41 xref: ICD9:601 {source="DOID:14654"} xref: ICD9:601.4 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:601.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:601.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14654"} xref: MedDRA:10036978 xref: MedDRA:10036982 xref: MESH:D011472 {source="EFO:0003830", source="MONDO:equivalentTo", source="DOID:14654"} xref: MeSH:D011472 xref: MONDO:0005280 xref: NCIT:C26866 {source="EFO:0003830", source="MONDO:equivalentTo", source="DOID:14654"} xref: NCIt:C26866 xref: SCTID:9713002 {source="EFO:0003830", source="MONDO:equivalentTo", source="DOID:14654"} xref: SNOMEDCT:9713002 xref: UMLS:C0033581 {source="MONDO:equivalentTo", source="NCIT:C26866", source="DOID:14654"} is_a: EFO:0000771 ! bacterial disease is_a: EFO:0009602 {source="DOID:14654", source="MESH:D011472", source="MONDO:Redundant", source="NCIT:C26866/inferred"} ! prostate disease is_a: EFO:0009903 ! inflammatory disease relationship: EFO:0000784 UBERON:0002367 ! has_disease_location prostate gland relationship: RO:0000057 NCBITaxon:2 ! has_participant Bacteria property_value: exactMatch DOID:14654 property_value: exactMatch http://identifiers.org/mesh/D011472 property_value: exactMatch http://identifiers.org/snomedct/9713002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033581 property_value: exactMatch NCIT:C26866 property_value: excluded_subClassOf MONDO:0005113 {source="EFO:0003830"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: IAO:0000589 "prostatitis (disease)" xsd:string [Term] id: EFO:0003831 name: obsolete_chromosome disorder def: "Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)" [] synonym: "AUTOSOMAL CHROMOSOME DIS" EXACT [] synonym: "Autosomal Chromosome Disorder" EXACT [] synonym: "Autosomal Chromosome Disorders" EXACT [] synonym: "CHROMOSOMAL DIS" EXACT [] synonym: "Chromosomal Disorder" EXACT [] synonym: "Chromosomal Disorders" EXACT [] synonym: "CHROMOSOME ABNORM DIS" EXACT [] synonym: "Chromosome Abnormality Disorder" EXACT [] synonym: "Chromosome Abnormality Disorders" EXACT [] synonym: "CHROMOSOME DIS" EXACT [] synonym: "Chromosome Disorder, Autosomal" EXACT [] synonym: "Chromosome Disorders" EXACT [] synonym: "Chromosome Disorders, Autosomal" EXACT [] synonym: "Disorder, Chromosomal" EXACT [] synonym: "Disorder, Chromosome" EXACT [] synonym: "Disorder, Chromosome Abnormality" EXACT [] synonym: "Disorders, Chromosomal" EXACT [] synonym: "Disorders, Chromosome" EXACT [] xref: MeSH:D025063 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Reorganised into the Orphanet hierarchy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_68335 [Term] id: EFO:0003832 name: gallbladder disease def: "A disease involving the gall bladder." [https://orcid.org/0000-0002-6601-2165] def: "Diseases of the GALLBLADDER. They generally involve the impairment of BILE flow, GALLSTONES in the BILIARY TRACT, infections, neoplasms, or other diseases." [] synonym: "Bladder Disease, Gall" EXACT [] synonym: "Bladder Diseases, Gall" EXACT [] synonym: "disease of gall bladder" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of gall bladder" EXACT [] synonym: "Disease, Gall Bladder" EXACT [] synonym: "Disease, Gallbladder" EXACT [] synonym: "Diseases, Gall Bladder" EXACT [] synonym: "Diseases, Gallbladder" EXACT [] synonym: "disorder of gall bladder" EXACT [MONDO:patterns/location_top] synonym: "GALL BLADDER DIS" EXACT [] synonym: "gall bladder disease" EXACT [MONDO:patterns/location] synonym: "gall bladder disease or disorder" EXACT [MONDO:patterns/location] synonym: "Gall Bladder Diseases" EXACT [] synonym: "Gall bladder disorder" EXACT [NCIT:C34631] synonym: "GALLBLADDER DIS" EXACT [] synonym: "Gallbladder Disease" EXACT [] synonym: "Gallbladder Diseases" EXACT [] synonym: "gallbladder disorder" EXACT [NCIT:C34631] synonym: "gallbladder disorder" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0060262 {source="EFO:0003832", source="MONDO:equivalentTo"} xref: ICD10:K82 xref: ICD10CM:K82 {source="MONDO:equivalentTo"} xref: ICD9:575.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:575.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:0060262"} xref: MedDRA:10017641 xref: MESH:D005705 {source="EFO:0003832", source="MONDO:equivalentTo", source="DOID:0060262"} xref: MeSH:D005705 xref: MONDO:0005281 xref: NCIT:C34631 {source="MONDO:equivalentTo", source="DOID:0060262"} xref: OMIM:609919 xref: SCTID:39621005 {source="MONDO:equivalentTo", source="DOID:0060262"} xref: UMLS:C0016977 {source="MONDO:equivalentTo", source="NCIT:C34631", source="DOID:0060262"} is_a: EFO:0009534 ! biliary tract disease property_value: exactMatch DOID:0060262 property_value: exactMatch http://identifiers.org/mesh/D005705 property_value: exactMatch http://identifiers.org/snomedct/39621005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016977 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K82 property_value: exactMatch NCIT:C34631 property_value: excluded_subClassOf MONDO:0003847 {comment="OMIMPS:600803"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6008 xsd:anyURI [Term] id: EFO:0003833 name: brain neoplasm def: "A neoplasm (disease) that involves the brain." [MONDO:patterns/location] def: "Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." [] synonym: "brain neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "brain neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "Brain Neoplasms" EXACT [] synonym: "brain neoplasms" EXACT [NCIT:C2907] synonym: "Brain Tumor" EXACT [] synonym: "brain tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2907] synonym: "Brain Tumor, Recurrent" EXACT [] synonym: "Brain Tumors" EXACT [] synonym: "Brain Tumors, Recurrent" EXACT [] synonym: "brain tumour" EXACT OMO:0003005 [] synonym: "INTRACRANIAL NEOPL" EXACT [] synonym: "Intracranial Neoplasm" EXACT [] synonym: "Intracranial Neoplasms" EXACT [] synonym: "NEOPL BRAIN" EXACT [] synonym: "NEOPL INTRACRANIAL" EXACT [] synonym: "neoplasm of brain" EXACT [MONDO:patterns/neoplasm, NCIT:C2907] synonym: "neoplasm of the brain" EXACT [NCIT:C2907] synonym: "Neoplasm, Brain" EXACT [] synonym: "Neoplasm, Intracranial" EXACT [] synonym: "Neoplasms, Brain" EXACT [] synonym: "Neoplasms, Intracranial" EXACT [] synonym: "PRIMARY BRAIN NEOPL" EXACT [] synonym: "Recurrent Brain Tumor" EXACT [] synonym: "Recurrent Brain Tumors" EXACT [] synonym: "tumor of brain" EXACT [MONDO:patterns/neoplasm, NCIT:C2907] synonym: "tumor of the Brain" EXACT [NCIT:C2907] synonym: "Tumor, Brain" EXACT [] synonym: "Tumors, Brain" EXACT [] synonym: "tumour of brain" EXACT OMO:0003005 [] synonym: "tumour of the Brain" EXACT OMO:0003005 [] xref: DOID:1319 xref: ICD10:C71 xref: MedDRA:10061019 xref: MeSH:D001932 xref: MONDO:0021211 xref: NCIT:C2907 {source="MONDO:equivalentTo"} xref: NCIt:C2907 is_a: EFO:0005774 ! brain disease is_a: EFO:1000158 {source="MONDO:Redundant", source="NCIT:C2907/inferred"} ! Central Nervous System Neoplasm property_value: exactMatch NCIT:C2907 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003834 name: cutaneous lupus erythematosus def: "A form of lupus erythematosus in which the skin may be the only organ involved or in which skin involvement precedes the spread into other body systems. It has been classified into three forms - acute (= LUPUS ERYTHEMATOSUS, SYSTEMIC with skin lesions), subacute, and chronic (= LUPUS ERYTHEMATOSUS, DISCOID)." [] def: "An autoimmune disorder that manifests as different lupus-specific skin disorders; it can occur with systemic lupus erythematosus, or as a singular disease." [NCIT:P378] subset: gard_rare {source="GARD:0006225"} synonym: "cutaneous lupus erythematosus" EXACT [] {comment="preferred label from MONDO"} synonym: "Lupus Erythematosus, Cutaneous" EXACT [] synonym: "lupus erythematosus, cutaneous" RELATED [GARD:0006225] synonym: "Lupus Erythematosus, Cutaneous, Subacute" EXACT [] synonym: "Lupus Erythematosus, Subacute Cutaneous" EXACT [] xref: DOID:0050169 {source="MONDO:equivalentTo", source="EFO:0003834"} xref: MedDRA:10056509 xref: MESH:D008178 {source="MONDO:equivalentTo", source="EFO:0003834"} xref: MeSH:D008178 xref: MONDO:0005282 xref: NCIT:C26819 {source="MONDO:equivalentTo", source="EFO:0003834"} xref: NCIt:C26819 xref: SCTID:7119001 {source="MONDO:equivalentTo", source="EFO:0003834"} xref: SNOMEDCT:7119001 xref: UMLS:C0024137 {source="GARD:0006225", source="NCIT:C26819", source="MONDO:equivalentTo"} is_a: EFO:0005140 ! autoimmune disease is_a: MONDO:0004670 {source="DOID:0050169", source="NCIT:C26819"} ! lupus erythematosus relationship: EFO:0000784 UBERON:0000014 ! has_disease_location zone of skin property_value: exactMatch DOID:0050169 property_value: exactMatch http://identifiers.org/mesh/D008178 property_value: exactMatch http://identifiers.org/snomedct/7119001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024137 property_value: exactMatch NCIT:C26819 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6225/cutaneous-lupus-erythematosus xsd:anyURI {source="GARD:0006225"} [Term] id: EFO:0003835 name: anal neoplasm def: "A benign or malignant neoplasm that affects the anal canal or anal margin. Representative examples of benign neoplasms include squamous papilloma and papillary hidradenoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and melanoma." [NCIT:P378] def: "Tumors of the ANAL CANAL." [] synonym: "ANAL NEOPL" EXACT [] synonym: "anal neoplasm" EXACT [DOID:4551, NCIT:C2877] synonym: "Anal Neoplasms" EXACT [] synonym: "anal neoplasms, benign and malignant" EXACT [NCIT:C2877] synonym: "anal tumor" EXACT [NCIT:C2877] synonym: "anal tumors" EXACT [DOID:4551, NCIT:C2877] synonym: "anal tumour" EXACT OMO:0003005 [] synonym: "anal tumours" EXACT OMO:0003005 [] synonym: "ANUS NEOPL" EXACT [] synonym: "Anus Neoplasm" EXACT [] synonym: "anus neoplasm" EXACT [NCIT:C2877] synonym: "anus neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "anus neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "Anus Neoplasms" EXACT [] synonym: "anus tumor" EXACT [MONDO:patterns/neoplasm] synonym: "anus tumour" EXACT OMO:0003005 [] synonym: "NEOPL ANAL" EXACT [] synonym: "NEOPL ANUS" EXACT [] synonym: "neoplasm of anus" EXACT [DOID:4551, MONDO:patterns/neoplasm, NCIT:C2877] synonym: "neoplasm of the anus" EXACT [NCIT:C2877] synonym: "Neoplasm, Anal" EXACT [] synonym: "Neoplasm, Anus" EXACT [] synonym: "Neoplasms, Anal" EXACT [] synonym: "Neoplasms, Anus" EXACT [] synonym: "tumor of anus" EXACT [MONDO:patterns/neoplasm, NCIT:C2877] synonym: "tumor of the anus" EXACT [NCIT:C2877] synonym: "tumour of anus" EXACT OMO:0003005 [] synonym: "tumour of the anus" EXACT OMO:0003005 [] xref: DOID:14110 xref: DOID:4551 {source="MONDO:equivalentTo"} xref: ICD10:C21 xref: ICD10:D12 xref: MedDRA:10061629 xref: MESH:D001005 {source="DOID:4551", source="MONDO:equivalentTo"} xref: MeSH:D001005 xref: MONDO:0003046 xref: NCIT:C2877 {source="DOID:4551", source="MONDO:equivalentTo"} xref: NCIt:C2877 xref: SCTID:126849006 {source="DOID:4551", source="MONDO:equivalentTo"} xref: UMLS:C0003463 {source="DOID:4551", source="MONDO:equivalentTo", source="NCIT:C2877"} is_a: EFO:0009660 {source="MESH:D001005", source="MONDO:Redundant", source="NCIT:C2877"} ! anus disease is_a: MONDO:0002165 {source="MESH:D001005", source="MONDO:Redundant"} ! rectal neoplasm relationship: EFO:0000784 UBERON:0001353 ! has_disease_location anal region property_value: exactMatch DOID:4551 property_value: exactMatch http://identifiers.org/mesh/D001005 property_value: exactMatch http://identifiers.org/snomedct/126849006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003463 property_value: exactMatch NCIT:C2877 property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003836 name: lipoprotein def: "Lipid-protein complexes involved in the transportation and metabolism of lipids in the body. They are spherical particles consisting of a hydrophobic core of TRIGLYCERIDES and CHOLESTEROL ESTERS surrounded by a layer of hydrophilic free CHOLESTEROL; PHOSPHOLIPIDS; and APOLIPOPROTEINS. Lipoproteins are classified by their varying buoyant density and sizes." [] synonym: "Circulating Lipoproteins" EXACT [] synonym: "Lipoproteins" EXACT [] synonym: "Lipoproteins, Circulating" EXACT [] xref: MeSH:D008074 xref: NCIt:C20029 xref: SNOMEDCT:301861005 is_a: CHEBI:36080 ! protein property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003837 name: calcification def: "Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer." [] def: "Process by which organic tissue becomes hardened by the physiologic deposit of calcium salts." [] synonym: "Bone Mineralization" EXACT [] synonym: "CALCIFICATION PHYSIOL" EXACT [] synonym: "Calcification, Physiologic" EXACT [] synonym: "Calcification, Physiological" EXACT [] synonym: "calcinosis" EXACT [] synonym: "CALCIUM DEPOSIT(S)" EXACT [] synonym: "DEPOSIT(S), CALCIUM" EXACT [] synonym: "macrocalcification" EXACT [] synonym: "Mineralization, Bone" EXACT [] synonym: "PHYSIOL CALCIFICATION" EXACT [] synonym: "Physiologic Calcification" EXACT [] synonym: "Physiological Calcification" EXACT [] xref: DOID:182 xref: MedDRA:10006958 xref: MedDRA:10012367 xref: MeSH:D002113 xref: MeSH:D002114 xref: NCIt:C3672 xref: SNOMEDCT:6595006 is_a: GO:0008150 ! biological_process property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003838 name: obsolete_inflammation def: "A pathological process characterized by injury or destruction of tissues caused by a variety of cytologic and chemical reactions. It is usually manifested by typical signs of pain, heat, redness, swelling, and loss of function." [] synonym: "INFLAMM" EXACT [] synonym: "Inflammations" EXACT [] xref: MeSH:D007249 property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replaced with an import from GO 'inflammatory response' under process." xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/GO_0006954 [Term] id: EFO:0003839 name: retinopathy def: "Any disease or disorder of the retina." [NCIT:C62601] synonym: "eye disease of retina" EXACT [MONDO:design_pattern] synonym: "retina eye disease" EXACT [MONDO:patterns/location] synonym: "retinal disease" EXACT [] synonym: "retinal disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "retinopathy" EXACT [https://orcid.org/0000-0001-5208-3432] xref: DOID:5679 {source="MONDO:equivalentTo", source="EFO:0003839"} xref: HGNC:8002 {source="EFO:0003839"} xref: ICD10:H35 xref: ICD9:362.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:362.9 {source="MONDO:equivalentTo", source="DOID:5679", source="MONDO:i2s"} xref: MedDRA:10038923 xref: MESH:D012164 {source="MONDO:equivalentTo", source="DOID:5679"} xref: MONDO:0005283 xref: NCIT:C26875 {source="MONDO:equivalentTo", source="DOID:5679"} xref: NCIT:C62601 {source="MONDO:equivalentTo", source="DOID:5679", source="EFO:0003839"} xref: NCIt:C62601 xref: OMIM:162080 xref: SCTID:29555009 {source="MONDO:equivalentTo", source="DOID:5679"} xref: SNOMEDCT:399625000 xref: UMLS:C0035309 {source="MONDO:equivalentTo", source="DOID:5679"} is_a: EFO:0000618 ! nervous system disease is_a: EFO:0003966 {source="DOID:5679", source="EFO:0003839", source="MESH:D012164", source="MONDO:Redundant", source="NCIT:C62601/inferred"} ! eye disease relationship: EFO:0000784 UBERON:0000966 ! has_disease_location retina property_value: exactMatch DOID:5679 property_value: exactMatch http://identifiers.org/mesh/D012164 property_value: exactMatch http://identifiers.org/snomedct/29555009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035309 property_value: exactMatch NCIT:C26875 property_value: exactMatch NCIT:C62601 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003840 name: chronic progressive multiple sclerosis def: "A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)" [MESH:D020528] synonym: "chronic progressive multiple sclerosis" EXACT [] {comment="preferred label from MONDO"} synonym: "MS CHRONIC PROGRESSIVE" EXACT [] synonym: "MULTIPLE SCLEROSIS SECOND PROGRESSIVE" EXACT [] synonym: "Multiple Sclerosis, Chronic Progressive" EXACT [] synonym: "Multiple Sclerosis, Primary Progressive" EXACT [] synonym: "Multiple Sclerosis, Progressive Relapsing" EXACT [] synonym: "Multiple Sclerosis, Remittent Progressive" EXACT [] synonym: "Multiple Sclerosis, Secondary Progressive" EXACT [] synonym: "Primary Progressive Multiple Sclerosis" EXACT [] synonym: "Progressive Relapsing Multiple Sclerosis" EXACT [] synonym: "Remittent Progressive Multiple Sclerosis" EXACT [] synonym: "SECOND PROGRESSIVE MULTIPLE SCLEROSIS" EXACT [] synonym: "Secondary Progressive Multiple Sclerosis" EXACT [] xref: DOID:0050783 xref: DOID:0050784 xref: DOID:0050785 xref: MESH:D020528 {source="EFO:0003840", source="MONDO:equivalentTo"} xref: MeSH:D020528 xref: MONDO:0005284 xref: SCTID:230373008 {source="EFO:0003840", source="MONDO:equivalentTo"} xref: SNOMEDCT:230373008 xref: UMLS:C0393665 {source="MONDO:equivalentTo"} is_a: EFO:0009714 ! chronic disease is_a: MONDO:0005301 {source="EFO:0003840", source="MESH:D020528"} ! multiple sclerosis relationship: has_modifier HP:0011010 ! Chronic property_value: exactMatch http://identifiers.org/mesh/D020528 property_value: exactMatch http://identifiers.org/snomedct/230373008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393665 property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003841 name: thyroid neoplasm alt_id: MONDO:0021217 def: "A benign or malignant neoplasm affecting the thyroid gland." [NCIT:P378] comment: Editor note: TODO subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:100087"} synonym: "Adenoma, Thyroid" EXACT [] synonym: "NEOPL THYROID" EXACT [] synonym: "neoplasm of the thyroid" EXACT [NCIT:C3414] synonym: "neoplasm of the thyroid gland" EXACT [NCIT:C3414] synonym: "neoplasm of thyroid" EXACT [NCIT:C3414] synonym: "neoplasm of thyroid gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3414] synonym: "Neoplasm, Thyroid" EXACT [] synonym: "Neoplasms, Thyroid" EXACT [] synonym: "THYROID" RELATED ABBREVIATION [ONCOTREE:THYROID] synonym: "Thyroid Gland Neoplasm" EXACT [] synonym: "thyroid gland neoplasm" EXACT [NCIT:C3414] synonym: "thyroid gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "thyroid gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3414] synonym: "thyroid gland tumour" EXACT OMO:0003005 [] synonym: "THYROID NEOPL" EXACT [] synonym: "thyroid neoplasm" EXACT [NCIT:C3414] synonym: "Thyroid Neoplasms" EXACT [] synonym: "thyroid neoplasms" EXACT [NCIT:C3414] synonym: "thyroid tumor" EXACT [NCIT:C3414] synonym: "thyroid tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "tumor of the thyroid" EXACT [NCIT:C3414] synonym: "tumor of the thyroid gland" EXACT [NCIT:C3414] synonym: "tumor of thyroid" EXACT [NCIT:C3414] synonym: "tumor of thyroid gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3414] synonym: "tumour of the thyroid" EXACT OMO:0003005 [] synonym: "tumour of the thyroid gland" EXACT OMO:0003005 [] synonym: "tumour of thyroid" EXACT OMO:0003005 [] synonym: "tumour of thyroid gland" EXACT OMO:0003005 [] xref: DOID:2891 xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10043744 xref: MeSH:D013964 xref: MONDO:0015074 xref: NCIT:C3414 {source="MONDO:equivalentTo"} xref: NCIt:C3414 xref: ONCOTREE:THYROID {source="MONDO:equivalentTo"} xref: Orphanet:100087 {source="MONDO:equivalentTo"} xref: SCTID:127018007 {source="MONDO:equivalentTo"} is_a: EFO:0003769 ! endocrine neoplasm is_a: EFO:1000627 {source="MONDO:Redundant", source="NCIT:C3414"} ! thyroid disease property_value: exactMatch http://identifiers.org/snomedct/127018007 property_value: exactMatch NCIT:C3414 property_value: exactMatch Orphanet:100087 property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003842 name: obsolete_bone of lower extremity property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0003464 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003464 [Term] id: EFO:0003843 name: pain def: "An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS." [] synonym: "Ache" EXACT [] synonym: "Aches" EXACT [] synonym: "Burning Pain" EXACT [] synonym: "Burning Pains" EXACT [] synonym: "Crushing Pain" EXACT [] synonym: "Crushing Pains" EXACT [] synonym: "Migratory Pain" EXACT [] synonym: "Migratory Pains" EXACT [] synonym: "Pain, Burning" EXACT [] synonym: "Pain, Crushing" EXACT [] synonym: "Pain, Migratory" EXACT [] synonym: "Pain, Radiating" EXACT [] synonym: "Pain, Splitting" EXACT [] synonym: "Pains, Burning" EXACT [] synonym: "Pains, Crushing" EXACT [] synonym: "Pains, Migratory" EXACT [] synonym: "Pains, Radiating" EXACT [] synonym: "Pains, Splitting" EXACT [] synonym: "Physical Suffering" EXACT [] synonym: "Physical Sufferings" EXACT [] synonym: "Radiating Pain" EXACT [] synonym: "Radiating Pains" EXACT [] synonym: "Splitting Pain" EXACT [] synonym: "Splitting Pains" EXACT [] synonym: "Suffering, Physical" EXACT [] synonym: "Sufferings, Physical" EXACT [] xref: ICD10:R07 xref: ICD10:R52 xref: ICD9:338-338.99 xref: MedDRA:10033371 xref: MeSH:D010146 xref: NCIt:C3303 xref: SNOMEDCT:22253000 is_a: EFO:0003765 ! sign or symptom property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003844 name: ureteral neoplasm def: "A benign or malignant neoplasm that affects the ureter." [NCIT:C3427] def: "Tumors of the URETER which may cause obstruction leading to hydroureter, HYDRONEPHROSIS, and PYELONEPHRITIS. HEMATURIA is a common symptom." [] synonym: "NEOPL URETER" EXACT [] synonym: "NEOPL URETERAL" EXACT [] synonym: "neoplasm of the ureter" EXACT [NCIT:C3427] synonym: "neoplasm of ureter" EXACT [MONDO:patterns/neoplasm, NCIT:C3427] synonym: "Neoplasm, Ureteral" EXACT [] synonym: "neoplasms of the ureter" EXACT [NCIT:C3427] synonym: "Neoplasms of Ureter" EXACT [] synonym: "neoplasms of ureter" EXACT [NCIT:C3427] synonym: "Neoplasms, Ureteral" EXACT [] synonym: "tumor of the ureter" EXACT [NCIT:C3427] synonym: "tumor of ureter" EXACT [MONDO:patterns/neoplasm, NCIT:C3427] synonym: "tumour of the ureter" EXACT OMO:0003005 [] synonym: "tumour of ureter" EXACT OMO:0003005 [] synonym: "URETER NEOPL" EXACT [] synonym: "Ureter Neoplasm" EXACT [] synonym: "ureter neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "ureter neoplasm" EXACT [NCIT:C3427] synonym: "ureter neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "Ureter Neoplasms" EXACT [] synonym: "ureter tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3427] synonym: "ureter tumour" EXACT OMO:0003005 [] synonym: "URETERAL NEOPL" EXACT [] synonym: "ureteral neoplasm" EXACT [NCIT:C3427] synonym: "Ureteral Neoplasms" EXACT [] synonym: "ureteral tumor" EXACT [NCIT:C3427] synonym: "ureteral tumour" EXACT OMO:0003005 [] xref: DOID:11819 xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10062221 xref: MeSH:D014516 xref: MONDO:0021111 xref: NCIT:C3427 {source="MONDO:equivalentTo"} xref: NCIt:C3427 xref: OMIM:191600 xref: SCTID:126882009 {source="MONDO:equivalentTo"} is_a: EFO:0003086 ! kidney disease is_a: MONDO:0001926 ! ureteral disorder is_a: MONDO:0021066 {source="MONDO:Redundant", source="NCIT:C3427/inferred"} ! urinary system neoplasm property_value: exactMatch http://identifiers.org/snomedct/126882009 property_value: exactMatch NCIT:C3427 property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003845 name: obsolete_kidney stone property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.22.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate of EFO:0004253 'nephrolithiasis'." xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0004253 [Term] id: EFO:0003846 name: urethral neoplasm def: "A neoplasm (disease) that involves the urethra." [MONDO:patterns/location] def: "Cancer or tumors of the URETHRA. Benign epithelial tumors of the urethra usually consist of squamous and transitional cells. Primary urethral carcinomas are rare and typically of squamous cells. Urethral carcinoma is the only urological malignancy that is more common in females than in males." [] synonym: "Cancer of the Urethra" EXACT [] synonym: "Cancer of Urethra" EXACT [] synonym: "Cancer, Urethra" EXACT [] synonym: "Cancer, Urethral" EXACT [] synonym: "Cancers, Urethra" EXACT [] synonym: "Cancers, Urethral" EXACT [] synonym: "NEOPL URETHRAL" EXACT [] synonym: "neoplasm of the urethra" EXACT [NCIT:C3428] synonym: "neoplasm of urethra" EXACT [MONDO:patterns/neoplasm, NCIT:C3428] synonym: "Neoplasm, Urethra" EXACT [] synonym: "Neoplasm, Urethral" EXACT [] synonym: "Neoplasms, Urethra" EXACT [] synonym: "Neoplasms, Urethral" EXACT [] synonym: "neoplasms. urethra" EXACT [NCIT:C3428] synonym: "tumor of the urethra" EXACT [NCIT:C3428] synonym: "tumor of urethra" EXACT [MONDO:patterns/neoplasm, NCIT:C3428] synonym: "tumors. urethra" EXACT [NCIT:C3428] synonym: "tumour of the urethra" EXACT OMO:0003005 [] synonym: "tumour of urethra" EXACT OMO:0003005 [] synonym: "Urethra Cancer" EXACT [] synonym: "Urethra Cancers" EXACT [] synonym: "URETHRA NEOPL" EXACT [] synonym: "Urethra Neoplasm" EXACT [] synonym: "urethra neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "urethra neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "Urethra Neoplasms" EXACT [] synonym: "urethra neoplasms" EXACT [NCIT:C3428] synonym: "urethra tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3428] synonym: "urethra tumors" EXACT [NCIT:C3428] synonym: "urethra tumour" EXACT OMO:0003005 [] synonym: "urethra tumours" EXACT OMO:0003005 [] synonym: "Urethral Cancer" EXACT [] synonym: "Urethral Cancers" EXACT [] synonym: "URETHRAL NEOPL" EXACT [] synonym: "urethral neoplasm" EXACT [NCIT:C3428] synonym: "Urethral Neoplasms" EXACT [] synonym: "urethral neoplasms" EXACT [NCIT:C3428] synonym: "urethral tumor" EXACT [NCIT:C3428] synonym: "urethral tumors" EXACT [NCIT:C3428] synonym: "urethral tumour" EXACT OMO:0003005 [] synonym: "urethral tumours" EXACT OMO:0003005 [] xref: DOID:734 xref: MedDRA:10046431 xref: MedDRA:10062223 xref: MeSH:D014523 xref: MONDO:0021239 xref: NCIT:C3428 {source="MONDO:equivalentTo"} xref: NCIt:C3428 is_a: EFO:0009689 {source="MONDO:Redundant", source="NCIT:C3428"} ! urethral disease is_a: MONDO:0021066 {source="MONDO:Redundant", source="NCIT:C3428"} ! urinary system neoplasm relationship: EFO:0000784 UBERON:0000057 ! has_disease_location urethra property_value: exactMatch NCIT:C3428 property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003847 name: obsolete_intellectual disability def: "Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual is mentally retarded. IQ scores between 70 and 79 are in the borderline mentally retarded range. Scores below 67 are in the retarded range. (Joynt, Clinical Neurology, 1992, Ch55, p28)" [] synonym: "DEFIC MENTAL" EXACT [] synonym: "Deficiencies, Mental" EXACT [] synonym: "Deficiency, Mental" EXACT [] synonym: "Disabilities, Intellectual" EXACT [] synonym: "Disability, Intellectual" EXACT [] synonym: "Idiocy" EXACT [] synonym: "Intellectual Disabilities" EXACT [] synonym: "Intellectual Disability" EXACT [] synonym: "intellectual disability, Psychosocial" EXACT [] synonym: "MENTAL DEFIC" EXACT [] synonym: "Mental Deficiencies" EXACT [] synonym: "Mental Deficiency" EXACT [] synonym: "Psychosocial intellectual disability" EXACT [] xref: DOID:1059 xref: ICD9:317-319.99 xref: MedDRA:10012131 xref: MedDRA:10027378 xref: MeSH:D008607 xref: NCIt:C84392 xref: OMIM:613671 xref: OMIM:615829 xref: OMIM:616158 xref: OMIM:616393 xref: SNOMEDCT:91138005 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.47.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication of phenotype.\n\nUse: http://purl.obolibrary.org/obo/HP_0001249" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HP_0001249 [Term] id: EFO:0003848 name: obsolete_cardiovascular abnormality def: "Congenital, inherited, or acquired anomalies of the CARDIOVASCULAR SYSTEM, including the HEART and BLOOD VESSELS." [] synonym: "ABNORM CARDIOVASC" EXACT [] synonym: "Abnormalities, Cardiovascular" EXACT [] synonym: "Abnormality, Cardiovascular" EXACT [] synonym: "CARDIOVASC ABNORM" EXACT [] synonym: "Cardiovascular Abnormalities" EXACT [] xref: MeSH:D018376 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32.2" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "organisational class no longer needed (no child classes)" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0003849 name: palatal neoplasm def: "A benign or malignant neoplasm that affects the hard palate, soft palate, or uvula." [NCIT:C4402] synonym: "neoplasm of palate" EXACT [NCIT:C4402] synonym: "neoplasm of secondary palate" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the palate" EXACT [NCIT:C4402] synonym: "palatal neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "palatal neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "palate neoplasm" EXACT [NCIT:C4402] synonym: "palate tumor" EXACT [NCIT:C4402] synonym: "palate tumour" EXACT OMO:0003005 [] synonym: "secondary palate neoplasm" EXACT [] synonym: "secondary palate neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "secondary palate tumor" EXACT [MONDO:patterns/neoplasm] synonym: "secondary palate tumour" EXACT OMO:0003005 [] synonym: "tumor of palate" EXACT [NCIT:C4402] synonym: "tumor of secondary palate" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the palate" EXACT [NCIT:C4402] synonym: "tumour of palate" EXACT OMO:0003005 [] synonym: "tumour of secondary palate" EXACT OMO:0003005 [] synonym: "tumour of the palate" EXACT OMO:0003005 [] xref: EFO:0003849 {source="MONDO:equivalentTo"} xref: MESH:D010157 {source="MONDO:equivalentTo", source="EFO:0003849"} xref: MONDO:0005286 xref: NCIT:C4402 {source="MONDO:equivalentTo", source="EFO:0003849"} xref: SCTID:126805009 {source="MONDO:equivalentTo"} xref: UMLS:C0030215 {source="MONDO:equivalentTo", source="NCIT:C4402"} is_a: EFO:0003868 {source="NCIT:C4402"} ! mouth neoplasm property_value: exactMatch http://identifiers.org/mesh/D010157 property_value: exactMatch http://identifiers.org/mesh/D010157 property_value: exactMatch http://identifiers.org/snomedct/126805009 property_value: exactMatch http://identifiers.org/snomedct/126805009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030215 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030215 property_value: exactMatch NCIT:C4402 property_value: exactMatch NCIT:C4402 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/neoplasm.yaml [Term] id: EFO:0003850 name: adrenal gland neoplasm def: "A neoplasm (disease) that involves the adrenal gland." [MONDO:patterns/location] def: "Tumors or cancer of the ADRENAL GLANDS." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:100091"} synonym: "Adrenal Cancer" EXACT [] synonym: "Adrenal Cancers" EXACT [] synonym: "Adrenal Gland Cancer" EXACT [] synonym: "Adrenal Gland Cancers" EXACT [] synonym: "ADRENAL GLAND NEOPL" EXACT [] synonym: "adrenal gland neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "adrenal gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "Adrenal Gland Neoplasms" EXACT [] synonym: "adrenal gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2859] synonym: "adrenal gland tumour" EXACT OMO:0003005 [] synonym: "Adrenal Neoplasm" EXACT [] synonym: "adrenal neoplasm" EXACT [NCIT:C2859] synonym: "Adrenal Neoplasms" EXACT [] synonym: "adrenal neoplasms" EXACT [NCIT:C2859] synonym: "adrenal tumor" EXACT [NCIT:C2859] synonym: "adrenal tumour" EXACT OMO:0003005 [] synonym: "adrenal/paraganglial tumor" RELATED [] synonym: "adrenal/paraganglial tumour" RELATED OMO:0003005 [] synonym: "ADRENALGLAND" RELATED ABBREVIATION [ONCOTREE:ADRENALGLAND] synonym: "Cancer of the Adrenal Gland" EXACT [] synonym: "Cancer, Adrenal" EXACT [] synonym: "Cancer, Adrenal Gland" EXACT [] synonym: "Cancers, Adrenal" EXACT [] synonym: "Cancers, Adrenal Gland" EXACT [] synonym: "NEOPL ADRENAL GLAND" EXACT [] synonym: "neoplasm of adrenal gland" EXACT [MONDO:patterns/neoplasm, NCIT:C2859] synonym: "neoplasm of the adrenal gland" EXACT [NCIT:C2859] synonym: "Neoplasm, Adrenal" EXACT [] synonym: "Neoplasm, Adrenal Gland" EXACT [] synonym: "Neoplasms, Adrenal" EXACT [] synonym: "Neoplasms, Adrenal Gland" EXACT [] synonym: "tumor of adrenal gland" EXACT [MONDO:patterns/neoplasm, NCIT:C2859] synonym: "tumor of the adrenal gland" EXACT [NCIT:C2859] synonym: "tumour of adrenal gland" EXACT OMO:0003005 [] synonym: "tumour of the adrenal gland" EXACT OMO:0003005 [] xref: DOID:3953 xref: MedDRA:10001376 xref: MedDRA:10028981 xref: MedDRA:10061588 xref: MeSH:D000310 xref: MONDO:0021227 xref: NCIT:C2859 {source="MONDO:equivalentTo"} xref: NCIt:C2859 xref: ONCOTREE:ADRENALGLAND {source="MONDO:equivalentTo"} xref: Orphanet:100091 {source="MONDO:equivalentTo"} xref: UMLS:CN197370 {source="MONDO:equivalentTo"} is_a: EFO:0003769 {source="Orphanet:100091"} ! endocrine neoplasm is_a: EFO:0005539 {source="MONDO:Redundant", source="NCIT:C2859", source="Orphanet:100091"} ! adrenal gland disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197370 property_value: exactMatch NCIT:C2859 property_value: exactMatch Orphanet:100091 property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5166 xsd:anyURI [Term] id: EFO:0003851 name: meningeal neoplasm def: "A benign or malignant neoplasm that affects the meninges. The majority of the neoplasms arise from meningothelial cells and are called meningiomas. Non-meningothelial cell neoplasms include mesenchymal, non-meningothelial tumors, hemangiopericytomas, and melanocytic lesions." [NCIT:C3229] def: "Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:252025"} synonym: "BENIGN MENINGEAL NEOPL" EXACT [] synonym: "Benign Meningeal Neoplasm" EXACT [] synonym: "Benign Meningeal Neoplasms" EXACT [] synonym: "Cancer, Meningeal" EXACT [] synonym: "Cancers, Meningeal" EXACT [] synonym: "INTRACRANIAL MENINGEAL NEOPL" EXACT [] synonym: "Intracranial Meningeal Neoplasm" EXACT [] synonym: "Intracranial Meningeal Neoplasms" EXACT [] synonym: "LEPTOMENINGEAL NEOPL" EXACT [] synonym: "Leptomeningeal Neoplasm" EXACT [] synonym: "Leptomeningeal Neoplasms" EXACT [] synonym: "MALIGNANT MENINGEAL NEOPL" EXACT [] synonym: "Malignant Meningeal Neoplasm" EXACT [] synonym: "Malignant Meningeal Neoplasms" EXACT [] synonym: "Meningeal Cancer" EXACT [] synonym: "Meningeal Cancers" EXACT [] synonym: "meningeal cluster neoplasm" EXACT [] synonym: "meningeal cluster neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "meningeal cluster rare nervous system tumor" EXACT [MONDO:patterns/location] synonym: "meningeal cluster rare nervous system tumour" EXACT OMO:0003005 [] synonym: "meningeal cluster tumor" EXACT [MONDO:patterns/neoplasm] synonym: "meningeal cluster tumour" EXACT OMO:0003005 [] synonym: "MENINGEAL NEOPL" EXACT [] synonym: "MENINGEAL NEOPL BENIGN" EXACT [] synonym: "MENINGEAL NEOPL INTRACRANIAL" EXACT [] synonym: "MENINGEAL NEOPL MALIGNANT" EXACT [] synonym: "meningeal neoplasm" EXACT [NCIT:C3229] synonym: "Meningeal Neoplasm, Benign" EXACT [] synonym: "Meningeal Neoplasm, Intracranial" EXACT [] synonym: "Meningeal Neoplasm, Malignant" EXACT [] synonym: "Meningeal Neoplasm, Spinal" EXACT [] synonym: "Meningeal Neoplasms" EXACT [] synonym: "meningeal neoplasms" EXACT [NCIT:C3229] synonym: "Meningeal Neoplasms, Benign" EXACT [] synonym: "Meningeal Neoplasms, Intracranial" EXACT [] synonym: "Meningeal Neoplasms, Malignant" EXACT [] synonym: "Meningeal Neoplasms, Spinal" EXACT [] synonym: "Meningeal Tumor" EXACT [] synonym: "meningeal tumor" EXACT [NCIT:C3229] synonym: "Meningeal Tumors" EXACT [] synonym: "meningeal tumour" EXACT OMO:0003005 [] synonym: "meninges neoplasm" EXACT [NCIT:C3229] synonym: "meninges tumor" EXACT [NCIT:C3229] synonym: "meninges tumour" EXACT OMO:0003005 [] synonym: "meningothelial tumor" RELATED [ONCOTREE:MNGT] synonym: "meningothelial tumour" RELATED OMO:0003005 [] synonym: "NEOPL LEPTOMENINGEAL" EXACT [] synonym: "NEOPL MENINGEAL" EXACT [] synonym: "neoplasm of meningeal cluster" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of meninges" EXACT [NCIT:C3229] synonym: "neoplasm of the meninges" EXACT [NCIT:C3229] synonym: "Neoplasm, Benign Meningeal" EXACT [] synonym: "Neoplasm, Intracranial Meningeal" EXACT [] synonym: "Neoplasm, Leptomeningeal" EXACT [] synonym: "Neoplasm, Malignant Meningeal" EXACT [] synonym: "Neoplasm, Meningeal" EXACT [] synonym: "Neoplasm, Spinal Meningeal" EXACT [] synonym: "Neoplasms, Benign Meningeal" EXACT [] synonym: "Neoplasms, Intracranial Meningeal" EXACT [] synonym: "Neoplasms, Leptomeningeal" EXACT [] synonym: "Neoplasms, Malignant Meningeal" EXACT [] synonym: "Neoplasms, Meningeal" EXACT [] synonym: "Neoplasms, Spinal Meningeal" EXACT [] synonym: "SPINAL MENINGEAL NEOPL" EXACT [] synonym: "Spinal Meningeal Neoplasm" EXACT [] synonym: "Spinal Meningeal Neoplasms" EXACT [] synonym: "tumor of meningeal cluster" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of meninges" EXACT [NCIT:C3229] synonym: "tumor of meninges" EXACT [] {comment="preferred label from MONDO"} synonym: "tumor of the meninges" EXACT [NCIT:C3229] synonym: "Tumor, Meningeal" EXACT [] synonym: "Tumors, Meningeal" EXACT [] synonym: "tumour of meningeal cluster" EXACT OMO:0003005 [] synonym: "tumour of the meninges" EXACT OMO:0003005 [] xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10061282 {source="Orphanet:252025", source="Orphanet:252025/e"} xref: MeSH:D008577 xref: MONDO:0016743 xref: NCIT:C3229 {source="MONDO:equivalentTo"} xref: NCIt:C3229 xref: ONCOTREE:MNGT {source="MONDO:equivalentTo"} xref: Orphanet:252025 {source="MONDO:equivalentTo"} xref: SCTID:126965008 {source="MONDO:equivalentTo"} xref: SNOMEDCT:409659004 xref: SNOMEDCT:414647009 xref: UMLS:C0025284 {source="MONDO:equivalentTo", source="Orphanet:252025", source="Orphanet:252025/e", source="NCIT:C3229"} is_a: EFO:1000158 ! Central Nervous System Neoplasm relationship: EFO:0000784 UBERON:0010743 ! has_disease_location meningeal cluster relationship: has_characteristic MONDO:0021136 {source="MONDO:0020036"} ! rare property_value: closeMatch http://identifiers.org/meddra/10061282 property_value: exactMatch http://identifiers.org/snomedct/126965008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025284 property_value: exactMatch NCIT:C3229 property_value: exactMatch Orphanet:252025 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003852 name: developmental disability def: "Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)" [MESH:D002658] synonym: "Child Development Deviation" EXACT [] synonym: "Child Development Deviations" EXACT [] synonym: "CHILD DEVELOPMENT DIS" EXACT [] synonym: "CHILD DEVELOPMENT DIS SPECIFIC" EXACT [] synonym: "Child Development Disorder" EXACT [] synonym: "Child Development Disorders" EXACT [] synonym: "Child Development Disorders, Specific" EXACT [] synonym: "Development Deviation, Child" EXACT [] synonym: "Development Deviations, Child" EXACT [] synonym: "DEVELOPMENT DIS CHILD" EXACT [] synonym: "Development Disorder, Child" EXACT [] synonym: "Development Disorders, Child" EXACT [] synonym: "DEVELOPMENTAL DELAY DIS" EXACT [] synonym: "Developmental Delay Disorder" EXACT [] synonym: "Developmental Delay Disorders" EXACT [] synonym: "Developmental Disabilities" EXACT [] synonym: "developmental disability" EXACT [] {comment="preferred label from MONDO"} synonym: "Deviation, Child Development" EXACT [] synonym: "Disabilities, Developmental" EXACT [] synonym: "Disability, Developmental" EXACT [] xref: MESH:D002658 {source="EFO:0003852", source="MONDO:equivalentTo"} xref: MeSH:D002658 xref: MONDO:0005287 is_a: EFO:0000618 {source="EFO:0003852"} ! nervous system disease property_value: exactMatch http://identifiers.org/mesh/D002658 property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003853 name: respiratory system neoplasm def: "A benign or malignant, primary or metastatic neoplasm involving the respiratory tract." [NCIT:C3355] def: "A tumor (abnormal growth of tissue) of the respiratory system." [] synonym: "neoplasm of respiratory tract" EXACT [MONDO:patterns/neoplasm, NCIT:C3355] synonym: "neoplasm of the respiratory tract" EXACT [NCIT:C3355] synonym: "Neoplasm, Respiratory Tract" EXACT [] synonym: "neoplasm, respiratory tract" EXACT [MESH:D012142] synonym: "Neoplasms, Respiratory Tract" EXACT [] synonym: "neoplasms, respiratory tract" EXACT [MESH:D012142] synonym: "respiratory system neoplasm" EXACT [EFO:0003853] synonym: "RESPIRATORY TRACT NEOPL" EXACT [] synonym: "Respiratory Tract Neoplasm" EXACT [] synonym: "respiratory tract neoplasm" EXACT [MESH:D012142, NCIT:C3355] synonym: "respiratory tract neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "Respiratory Tract Neoplasms" EXACT [] synonym: "respiratory tract tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3355] synonym: "respiratory tract tumour" EXACT OMO:0003005 [] synonym: "Tract Neoplasm, Respiratory" EXACT [] synonym: "tract neoplasm, respiratory" EXACT [MESH:D012142] synonym: "Tract Neoplasms, Respiratory" EXACT [] synonym: "tract neoplasms, respiratory" EXACT [MESH:D012142] synonym: "tumor of respiratory tract" EXACT [MONDO:patterns/neoplasm, NCIT:C3355] synonym: "tumor of the respiratory tract" EXACT [NCIT:C3355] synonym: "tumour of respiratory tract" EXACT OMO:0003005 [] synonym: "tumour of the respiratory tract" EXACT OMO:0003005 [] xref: HP:0100606 xref: ICD10:D14 xref: ICD10:D38 xref: ICD10CM:C30-C39 {source="MONDO:relatedTo", source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: MESH:D012142 {source="MONDO:equivalentTo"} xref: MeSH:D012142 xref: MONDO:0020641 xref: NCIT:C3355 {source="MONDO:equivalentTo"} xref: NCIt:C3355 xref: SCTID:126667002 {source="MONDO:equivalentTo"} is_a: EFO:0000616 ! neoplasm is_a: EFO:0000684 {source="MESH:D012142", source="NCIT:C3355"} ! respiratory system disease relationship: EFO:0000784 UBERON:0001004 ! has_disease_location respiratory system property_value: exactMatch http://identifiers.org/mesh/D012142 property_value: exactMatch http://identifiers.org/snomedct/126667002 property_value: exactMatch NCIT:C3355 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: relatedMatch http://purl.bioontology.org/ontology/ICD10CM/C30-C39 [Term] id: EFO:0003854 name: postmenopausal osteoporosis def: "Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency." [MESH:D015663] synonym: "Bone Loss, Perimenopausal" EXACT [] synonym: "Bone Loss, Postmenopausal" EXACT [] synonym: "Bone Losses, Perimenopausal" EXACT [] synonym: "Bone Losses, Postmenopausal" EXACT [] synonym: "bone mineral density quantitative trait locus" RELATED [OMIM:166710] synonym: "Osteoporoses, Post-Menopausal" EXACT [] synonym: "Osteoporoses, Postmenopausal" EXACT [] synonym: "Osteoporosis, Post Menopausal" EXACT [] synonym: "Osteoporosis, Post-Menopausal" EXACT [] synonym: "Osteoporosis, Postmenopausal" EXACT [] synonym: "osteoporosis, postmenopausal" RELATED [OMIM:166710] synonym: "Perimenopausal Bone Loss" EXACT [] synonym: "Perimenopausal Bone Losses" EXACT [] synonym: "Post-Menopausal Osteoporoses" EXACT [] synonym: "Post-Menopausal Osteoporosis" EXACT [] synonym: "Postmenopausal Bone Loss" EXACT [] synonym: "Postmenopausal Bone Losses" EXACT [] synonym: "Postmenopausal Osteoporoses" EXACT [] synonym: "postmenopausal osteoporosis" EXACT [] {comment="preferred label from MONDO"} xref: MESH:D015663 {source="EFO:0003854", source="MONDO:equivalentTo"} xref: MeSH:D015663 xref: MONDO:0008159 xref: OMIM:166710 xref: SCTID:102447009 {source="EFO:0003854", source="MONDO:equivalentTo"} xref: SNOMEDCT:102447009 xref: UMLS:C0029458 {source="MONDO:equivalentTo", source="OMIM:166710"} is_a: EFO:0003882 {source="DC-OMIM:166710", source="EFO:0003854", source="MESH:D015663"} ! osteoporosis property_value: exactMatch http://identifiers.org/mesh/D015663 property_value: exactMatch http://identifiers.org/snomedct/102447009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029458 property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003855 name: intestinal polyp def: "Discrete abnormal tissue masses that protrude into the lumen of the INTESTINE. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base." [] def: "Discrete abnormal tissue masses that protrude into the lumen of the intestine. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base." [MESH:D007417] synonym: "intestinal polyp" EXACT [MONDO:ambiguous] synonym: "intestinal polyp" EXACT [] {comment="preferred label from MONDO"} synonym: "intestinal polyp (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Intestinal Polyps" EXACT [] synonym: "Polyp, Intestinal" EXACT [] synonym: "Polyps, Intestinal" EXACT [] xref: HP:0005266 {source="MONDO:otherHierarchy"} xref: ICD9:569.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10048616 xref: MESH:D007417 {source="MONDO:equivalentTo", source="EFO:0003855"} xref: MeSH:D007417 xref: MONDO:0005288 xref: SCTID:254588001 {source="MONDO:equivalentTo"} is_a: EFO:0000662 {source="EFO:0003855", source="MESH:D007417"} ! polyp is_a: EFO:0009431 ! intestinal disease relationship: EFO:0000784 UBERON:0000160 ! has_disease_location intestine property_value: exactMatch http://identifiers.org/mesh/D007417 property_value: exactMatch http://identifiers.org/snomedct/254588001 property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: IAO:0000589 "intestinal polyp (disease)" xsd:string [Term] id: EFO:0003856 name: dissection def: "The separation and isolation of tissues for surgical purposes, or for the analysis or study of their structures." [] synonym: "Dissections" EXACT [] xref: MeSH:D004210 xref: NCIt:C15227 xref: OBI:0001504 is_a: EFO:0002571 ! medical procedure is_a: OBI:0600005 ! collecting specimen from organism property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003857 name: arthrogryposis def: "A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth." [NCIT:C84572] def: "Persistent flexure or contracture of a joint. (Dorland, 27th ed)" [] synonym: "AMYOPLASIA CONGEN" EXACT [] synonym: "Amyoplasia Congenita" EXACT [] synonym: "Arthrogryposes" EXACT [] synonym: "Arthrogryposes, congenital multiple" EXACT [MESH:D001176] synonym: "arthrogryposis" EXACT [] {comment="preferred label from MONDO"} synonym: "ARTHROMYODYSPLASIA CONGEN" EXACT [] synonym: "Arthromyodysplasia, Congenital" EXACT [] synonym: "Arthromyodysplasias, Congenital" EXACT [] synonym: "CONGEN ARTHROMYODYSPLASIA" EXACT [] synonym: "Congenital Arthromyodysplasia" EXACT [] synonym: "Congenital Arthromyodysplasias" EXACT [] synonym: "congenital multiple Arthrogryposes" EXACT [MESH:D001176] synonym: "congenital multiple arthrogryposis" EXACT [MESH:D001176] synonym: "Guerin Stern Syndrome" EXACT [] synonym: "Guerin-Stern Syndrome" EXACT [] synonym: "Myodystrophia Fetalis Deformans" EXACT [] synonym: "Syndrome, Guerin-Stern" EXACT [] xref: MESH:D001176 {source="MONDO:equivalentTo", source="EFO:0003857"} xref: MeSH:D001176 xref: MONDO:0008779 xref: NCIT:C84572 {source="MONDO:equivalentTo", source="EFO:0003857"} xref: NCIt:C84572 xref: SNOMEDCT:111246005 xref: UMLS:C0003886 {source="MONDO:equivalentTo", source="NCIT:C84572"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: EFO:0004280 {source="EFO:0003857"} ! movement disorder is_a: EFO:0005755 ! rheumatic disease is_a: MONDO:0023603 ! hereditary disorder of connective tissue relationship: EFO:0000784 UBERON:0000982 ! has_disease_location skeletal joint property_value: exactMatch http://identifiers.org/mesh/D001176 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003886 property_value: exactMatch NCIT:C84572 property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003858 name: skeleton structure is_a: UBERON:0000061 ! anatomical structure intersection_of: UBERON:0000061 ! anatomical structure intersection_of: part_of UBERON:0001434 ! skeletal system [Term] id: EFO:0003859 name: uterine neoplasm def: "A neoplasm (disease) that involves the uterus." [MONDO:patterns/location] def: "Tumors of the UTERUS." [] synonym: "NEOPL UTERINE" EXACT [] synonym: "NEOPL UTERUS" EXACT [] synonym: "neoplasm of the uterus" EXACT [NCIT:C3435] synonym: "neoplasm of uterus" EXACT [MONDO:patterns/neoplasm] synonym: "Neoplasm, Uterine" EXACT [] synonym: "Neoplasm, Uterus" EXACT [] synonym: "Neoplasms, Uterine" EXACT [] synonym: "Neoplasms, Uterus" EXACT [] synonym: "tumor of the uterus" EXACT [NCIT:C3435] synonym: "tumor of uterus" EXACT [] {comment="preferred label from MONDO"} synonym: "tumor of uterus" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of the uterus" EXACT OMO:0003005 [] synonym: "UTERINE NEOPL" EXACT [] synonym: "uterine neoplasm" EXACT [NCIT:C3435] synonym: "Uterine Neoplasms" EXACT [] synonym: "uterine neoplasms" EXACT [NCIT:C3435] synonym: "uterine tumor" EXACT [NCIT:C3435] synonym: "uterine tumour" EXACT OMO:0003005 [] synonym: "UTERUS NEOPL" EXACT [] synonym: "Uterus Neoplasm" EXACT [] synonym: "uterus neoplasm" EXACT [ONCOTREE:UTERUS] synonym: "uterus neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "Uterus Neoplasms" EXACT [] synonym: "uterus tumor" EXACT [MONDO:patterns/neoplasm] synonym: "uterus tumour" EXACT OMO:0003005 [] xref: DOID:363 xref: ICD10:D26 xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10046803 xref: MeSH:D014594 xref: MONDO:0021353 xref: NCIT:C3435 {source="MONDO:equivalentTo"} xref: NCIt:C3435 xref: ONCOTREE:UTERUS {source="MONDO:equivalentTo"} xref: SCTID:126908007 {source="MONDO:equivalentTo"} is_a: MONDO:0002654 {source="MONDO:Redundant", source="NCIT:C3435"} ! uterine disorder is_a: MONDO:0021148 {source="MONDO:Redundant", source="NCIT:C3435"} ! female reproductive system neoplasm relationship: EFO:0000784 UBERON:0000995 ! has_disease_location uterus property_value: exactMatch http://identifiers.org/snomedct/126908007 property_value: exactMatch NCIT:C3435 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003860 name: pancreatic neoplasm def: "A benign or malignant neoplasm involving the pancreas." [NCIT:C3305] def: "Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." [] synonym: "NEOPL PANCREATIC" EXACT [] synonym: "neoplasm of pancreas" EXACT [MONDO:patterns/neoplasm, NCIT:C3305] synonym: "neoplasm of the pancreas" EXACT [NCIT:C3305] synonym: "Neoplasm, Pancreas" EXACT [] synonym: "Neoplasm, Pancreatic" EXACT [] synonym: "Neoplasms, Pancreas" EXACT [] synonym: "Neoplasms, Pancreatic" EXACT [] synonym: "pancreas" RELATED [ONCOTREE:PANCREAS] synonym: "PANCREAS NEOPL" EXACT [] synonym: "Pancreas Neoplasm" EXACT [] synonym: "pancreas neoplasm" EXACT [NCIT:C3305] synonym: "pancreas neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "Pancreas Neoplasms" EXACT [] synonym: "pancreas tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3305] synonym: "pancreas tumour" EXACT OMO:0003005 [] synonym: "pancreatic cancer" EXACT [] synonym: "PANCREATIC NEOPL" EXACT [] synonym: "pancreatic neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "pancreatic neoplasm" EXACT [NCIT:C3305] synonym: "Pancreatic Neoplasms" EXACT [] synonym: "pancreatic tumor" EXACT [NCIT:C3305] synonym: "pancreatic tumour" EXACT OMO:0003005 [] synonym: "tumor of pancreas" EXACT [MONDO:patterns/neoplasm, NCIT:C3305] synonym: "tumor of the pancreas" EXACT [NCIT:C3305] synonym: "tumour of pancreas" EXACT OMO:0003005 [] synonym: "tumour of the pancreas" EXACT OMO:0003005 [] xref: DOID:1793 xref: MedDRA:10061902 xref: MESH:D010190 {source="MONDO:equivalentTo"} xref: MeSH:D010190 xref: MONDO:0021040 xref: NCIT:C3305 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIt:C3305 xref: OMIM:260350 xref: ONCOTREE:PANCREAS {source="MONDO:equivalentTo"} xref: SCTID:126859007 {source="MONDO:equivalentTo"} is_a: EFO:0008549 ! digestive system neoplasm is_a: EFO:0009605 ! pancreas disease property_value: exactMatch http://identifiers.org/mesh/D010190 property_value: exactMatch http://identifiers.org/snomedct/126859007 property_value: exactMatch NCIT:C3305 property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003861 name: pancreactic component is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0001264 ! pancreas [Term] id: EFO:0003862 name: obsolete_dementia def: "An acquired organic mental disorder with loss of intellectual abilities of sufficient severity to interfere with social or occupational functioning. The dysfunction is multifaceted and involves memory, behavior, personality, judgment, attention, spatial relations, language, abstract thought, and other executive functions. The intellectual decline is usually progressive, and initially spares the level of consciousness." [] synonym: "Amentia" EXACT [] synonym: "Amentias" EXACT [] synonym: "Dementia, Familial" EXACT [] synonym: "Dementias" EXACT [] synonym: "Dementias, Familial" EXACT [] synonym: "Dementias, Senile Paranoid" EXACT [] synonym: "Familial Dementia" EXACT [] synonym: "Familial Dementias" EXACT [] synonym: "Paranoid Dementia, Senile" EXACT [] synonym: "Paranoid Dementias, Senile" EXACT [] synonym: "Senile Paranoid Dementia" EXACT [] synonym: "Senile Paranoid Dementias" EXACT [] xref: DOID:1307 xref: ICD9:290 xref: MeSH:D003704 xref: NCIt:C4786 xref: SNOMEDCT:52448006 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.85" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use : HP:0000726 label : dementia" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0003863 name: urogenital neoplasm def: "Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." [] synonym: "Cancer, Genito-urinary" EXACT [] synonym: "Cancer, Genitourinary" EXACT [] synonym: "Cancer, Urogenital" EXACT [] synonym: "Cancers, Genito-urinary" EXACT [] synonym: "Cancers, Genitourinary" EXACT [] synonym: "Cancers, Urogenital" EXACT [] synonym: "Genito urinary Cancer" EXACT [] synonym: "GENITO URINARY NEOPL" EXACT [] synonym: "Genito-urinary Cancer" EXACT [] synonym: "Genito-urinary Cancers" EXACT [] synonym: "Genito-urinary Neoplasm" EXACT [] synonym: "Genito-urinary Neoplasms" EXACT [] synonym: "Genitourinary Cancer" EXACT [] synonym: "Genitourinary Cancers" EXACT [] synonym: "GENITOURINARY NEOPL" EXACT [] synonym: "Genitourinary Neoplasm" EXACT [] synonym: "Genitourinary Neoplasms" EXACT [] synonym: "NEOPL GENITOURINARY" EXACT [] synonym: "NEOPL UROGENITAL" EXACT [] synonym: "Neoplasm, Genito-urinary" EXACT [] synonym: "Neoplasm, Genitourinary" EXACT [] synonym: "Neoplasm, Urogenital" EXACT [] synonym: "Neoplasms, Genito-urinary" EXACT [] synonym: "Neoplasms, Genitourinary" EXACT [] synonym: "Neoplasms, Urogenital" EXACT [] synonym: "Urogenital Cancer" EXACT [] synonym: "Urogenital Cancers" EXACT [] synonym: "UROGENITAL NEOPL" EXACT [] synonym: "Urogenital Neoplasms" EXACT [] xref: ICD10:D07 xref: ICD10:D30 xref: ICD10:D41 xref: MedDRA:10046702 xref: MeSH:D014565 is_a: EFO:0000408 ! disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003864 name: obsolete_genitourinary system synonym: "urogenital system" EXACT [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0004122\nlabel: genitourinary system" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0004122 [Term] id: EFO:0003865 name: kidney neoplasm def: "A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma." [NCIT:C3150] def: "Tumors or cancers of the KIDNEY." [] synonym: "Cancer of Kidney" EXACT [] synonym: "Cancer of the Kidney" EXACT [] synonym: "Cancer, Kidney" EXACT [] synonym: "Cancer, Renal" EXACT [] synonym: "Cancers, Kidney" EXACT [] synonym: "Cancers, Renal" EXACT [] synonym: "Kidney Cancer" EXACT [] synonym: "Kidney Cancers" EXACT [] synonym: "KIDNEY NEOPL" EXACT [] synonym: "kidney neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "kidney neoplasm" EXACT [NCIT:C3150] synonym: "kidney neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "Kidney Neoplasms" EXACT [] synonym: "kidney tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3150] synonym: "kidney tumour" EXACT OMO:0003005 [] synonym: "NEOPL KIDNEY" EXACT [] synonym: "neoplasm of kidney" EXACT [MONDO:patterns/neoplasm, NCIT:C3150] synonym: "neoplasm of the kidney" EXACT [NCIT:C3150] synonym: "Neoplasm, Kidney" EXACT [] synonym: "Neoplasm, Renal" EXACT [] synonym: "Neoplasms, Kidney" EXACT [] synonym: "Neoplasms, Renal" EXACT [] synonym: "Renal Cancer" EXACT [] synonym: "Renal Cancers" EXACT [] synonym: "RENAL NEOPL" EXACT [] synonym: "Renal Neoplasm" EXACT [] synonym: "renal neoplasm" EXACT [NCIT:C3150] synonym: "Renal Neoplasms" EXACT [] synonym: "renal tumor" EXACT [NCIT:C3150] synonym: "renal tumors" EXACT [NCIT:C3150] synonym: "renal tumour" EXACT OMO:0003005 [] synonym: "renal tumours" EXACT OMO:0003005 [] synonym: "tumor of kidney" EXACT [MONDO:patterns/neoplasm, NCIT:C3150] synonym: "tumor of the kidney" EXACT [NCIT:C3150] synonym: "tumour of kidney" EXACT OMO:0003005 [] synonym: "tumour of the kidney" EXACT OMO:0003005 [] xref: DOID:263 xref: ICD10:C64 xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MeSH:D007680 xref: MONDO:0021163 xref: NCIT:C3150 {source="MONDO:equivalentTo"} xref: NCIt:C3150 xref: ONCOTREE:KIDNEY {source="MONDO:equivalentTo"} xref: SCTID:126880001 {source="MONDO:equivalentTo"} is_a: EFO:0003086 {source="MONDO:Redundant", source="NCIT:C3150"} ! kidney disease is_a: MONDO:0021066 {source="MONDO:Redundant", source="NCIT:C3150/inferred"} ! urinary system neoplasm property_value: exactMatch http://identifiers.org/snomedct/126880001 property_value: exactMatch NCIT:C3150 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003866 name: paranasal sinus neoplasm def: "A benign or malignant neoplasm that affects the paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." [NCIT:C7488] synonym: "accessory sinus neoplasm" EXACT [NCIT:C7488] synonym: "accessory sinus tumor" EXACT [NCIT:C7488] synonym: "accessory sinus tumour" EXACT OMO:0003005 [] synonym: "neoplasm of accessory sinus" EXACT [DOID:1350, NCIT:C7488] synonym: "neoplasm of paranasal sinus" EXACT [MONDO:patterns/neoplasm, NCIT:C7488] synonym: "neoplasm of the accessory sinus" EXACT [NCIT:C7488] synonym: "neoplasm of the paranasal sinus" EXACT [NCIT:C7488] synonym: "paranasal sinus neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "paranasal sinus neoplasm" EXACT [MONDO:ambiguous, NCIT:C7488] synonym: "paranasal sinus neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "paranasal sinus neoplasm (disease)" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/location] synonym: "paranasal sinus neoplasm (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "paranasal sinus neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "paranasal sinus neoplasms" EXACT [NCIT:C7488] synonym: "paranasal sinus tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C7488] synonym: "paranasal sinus tumour" EXACT OMO:0003005 [] synonym: "tumor of accessory sinus" EXACT [DOID:1350, NCIT:C7488] synonym: "tumor of paranasal sinus" EXACT [MONDO:patterns/neoplasm, NCIT:C7488] synonym: "tumor of the accessory sinus" EXACT [NCIT:C7488] synonym: "tumor of the paranasal sinus" EXACT [NCIT:C7488] synonym: "tumour of accessory sinus" EXACT OMO:0003005 [] synonym: "tumour of paranasal sinus" EXACT OMO:0003005 [] synonym: "tumour of the accessory sinus" EXACT OMO:0003005 [] synonym: "tumour of the paranasal sinus" EXACT OMO:0003005 [] xref: DOID:1350 {source="MONDO:equivalentTo", source="EFO:0003866"} xref: EFO:0003866 {source="MONDO:equivalentTo"} xref: HP:0030072 {source="MONDO:otherHierarchy"} xref: MONDO:0005289 xref: NCIT:C7488 {source="DOID:1350", source="NCIT:C7488", source="MONDO:equivalentTo", source="EFO:0003866"} xref: SCTID:126675008 {source="DOID:1350", source="MONDO:equivalentTo"} xref: UMLS:C0030470 {source="DOID:1350", source="NCIT:C7488", source="MONDO:equivalentTo"} is_a: EFO:0009481 {source="DOID:1350", source="MONDO:Redundant", source="NCIT:C7488"} ! paranasal sinus disease is_a: MONDO:0024653 ! skull neoplasm relationship: EFO:0000784 UBERON:0000004 ! has_disease_location nose property_value: closeMatch http://identifiers.org/mesh/D010255 property_value: exactMatch DOID:1350 property_value: exactMatch DOID:1350 property_value: exactMatch http://identifiers.org/snomedct/126675008 property_value: exactMatch http://identifiers.org/snomedct/126675008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030470 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030470 property_value: exactMatch NCIT:C7488 property_value: exactMatch NCIT:C7488 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/neoplasm.yaml property_value: IAO:0000589 "paranasal sinus neoplasm (disease)" xsd:string [Term] id: EFO:0003867 name: rhabdomyolysis def: "Necrosis or disintegration of skeletal muscle often followed by myoglobinuria." [] synonym: "Rhabdomyolyses" EXACT [] xref: ICD9:728.88 xref: MedDRA:10039020 xref: MeSH:D012206 xref: NCIt:C118318 xref: SNOMEDCT:240131006 xref: SNOMEDCT:89010004 is_a: EFO:0002970 ! muscular disease relationship: EFO:0000784 UBERON:0014892 ! has_disease_location skeletal muscle organ property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003868 name: mouth neoplasm def: "A neoplasm (disease) that involves the oral cavity." [MONDO:patterns/location] def: "Tumors or cancer of the MOUTH." [] synonym: "Cancer of Mouth" EXACT [] synonym: "Cancer of the Mouth" EXACT [] synonym: "Cancer, Mouth" EXACT [] synonym: "Cancer, Oral" EXACT [] synonym: "Cancers, Mouth" EXACT [] synonym: "Cancers, Oral" EXACT [] synonym: "Mouth Cancer" EXACT [] synonym: "Mouth Cancers" EXACT [] synonym: "MOUTH NEOPL" EXACT [] synonym: "mouth neoplasm" EXACT [NCIT:C7606] synonym: "Mouth Neoplasms" EXACT [] synonym: "mouth tumor" EXACT [NCIT:C7606] synonym: "mouth tumour" EXACT OMO:0003005 [] synonym: "NEOPL MOUTH" EXACT [] synonym: "NEOPL ORAL" EXACT [] synonym: "neoplasm of oral cavity" EXACT [MONDO:patterns/neoplasm] synonym: "Neoplasm, Mouth" EXACT [] synonym: "Neoplasm, Oral" EXACT [] synonym: "Neoplasms, Mouth" EXACT [] synonym: "Neoplasms, Oral" EXACT [] synonym: "Oral Cancer" EXACT [] synonym: "Oral Cancers" EXACT [] synonym: "Oral Cavity Neoplasm" EXACT [] synonym: "oral cavity neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "oral cavity neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "oral cavity tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C7606] synonym: "oral cavity tumour" EXACT OMO:0003005 [] synonym: "ORAL NEOPL" EXACT [] synonym: "Oral Neoplasm" EXACT [] synonym: "Oral Neoplasms" EXACT [] synonym: "tumor of mouth" RELATED [] synonym: "tumor of oral cavity" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of mouth" RELATED OMO:0003005 [] synonym: "tumour of oral cavity" EXACT OMO:0003005 [] xref: ICD10:D10 xref: ICD10:K09 xref: ICD10CM:C00-C14 {source="MONDO:relatedTo", source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: MedDRA:10061325 xref: MeSH:D009062 xref: MONDO:0021245 xref: NCIT:C7606 {source="MONDO:equivalentTo"} xref: NCIt:C7606 xref: NCIt:C8989 xref: SCTID:235075007 {source="MONDO:equivalentTo"} xref: UMLS:C0026640 {source="MONDO:equivalentTo", source="NCIT:C7606"} is_a: EFO:0005950 ! head and neck neoplasia is_a: EFO:0008549 ! digestive system neoplasm is_a: EFO:1001047 {source="MONDO:Redundant", source="NCIT:C7606/inferred"} ! mouth disease relationship: EFO:0000784 UBERON:0000165 ! has_disease_location mouth property_value: exactMatch http://identifiers.org/snomedct/235075007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026640 property_value: exactMatch NCIT:C7606 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: relatedMatch http://purl.bioontology.org/ontology/ICD10CM/C00-C14 [Term] id: EFO:0003869 name: breast neoplasm def: "A benign or malignant neoplasm of the breast parenchyma. It can originate from the ducts, lobules or the breast adipose tissue. Breast neoplasms are much more common in females than males." [NCIT:C2910] def: "Abnormal growth located in the breast or mammory gland." [] synonym: "BREAST NEOPL" EXACT [] synonym: "breast neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "breast neoplasm" EXACT [NCIT:C2910] synonym: "breast neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "Breast Neoplasms" EXACT [] synonym: "Breast Tumor" EXACT [] synonym: "breast tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2910] synonym: "Breast Tumors" EXACT [] synonym: "breast tumour" EXACT OMO:0003005 [] synonym: "Human Mammary Neoplasm" EXACT [] synonym: "Human Mammary Neoplasms" EXACT [] synonym: "Mammary Neoplasm, Human" EXACT [] synonym: "Mammary Neoplasms, Human" EXACT [] synonym: "NEOPL BREAST" EXACT [] synonym: "neoplasm of breast" EXACT [MONDO:patterns/neoplasm, NCIT:C2910] synonym: "neoplasm of the breast" EXACT [NCIT:C2910] synonym: "Neoplasm, Breast" EXACT [] synonym: "neoplasm, breast" EXACT [NCIT:C2910] synonym: "Neoplasm, Human Mammary" EXACT [] synonym: "Neoplasms, Breast" EXACT [] synonym: "Neoplasms, Human Mammary" EXACT [] synonym: "tumor of breast" EXACT [MONDO:patterns/neoplasm, NCIT:C2910] synonym: "tumor of the breast" EXACT [NCIT:C2910] synonym: "Tumor, Breast" EXACT [] synonym: "Tumors, Breast" EXACT [] synonym: "tumour of breast" EXACT OMO:0003005 [] synonym: "tumour of the breast" EXACT OMO:0003005 [] xref: HP:0100013 xref: ICD10:C50 xref: ICD10:D24 xref: ICD9:239.3 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10006279 xref: MESH:D001943 {source="MONDO:equivalentTo"} xref: MeSH:D001943 xref: MONDO:0021100 xref: NCIT:C2910 {source="MONDO:equivalentTo"} xref: NCIt:C2910 xref: OMIM:114480 xref: ONCOTREE:BREAST {source="MONDO:equivalentTo"} xref: SCTID:126926005 {source="MONDO:equivalentTo"} xref: UMLS:CN236627 {source="MONDO:equivalentTo"} is_a: EFO:0009483 {source="MESH:D001943", source="MONDO:Redundant", source="NCIT:C2910"} ! breast disease is_a: EFO:0010285 ! integumentary system disease is_a: MONDO:0021350 {source="MONDO:Redundant"} ! neoplasm of thorax property_value: exactMatch http://identifiers.org/mesh/D001943 property_value: exactMatch http://identifiers.org/snomedct/126926005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN236627 property_value: exactMatch NCIT:C2910 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003870 name: brain aneurysm def: "A congenital or acquired aneurysm within the cranium." [NCIT:P378] def: "Abnormal outpouching in the wall of intracranial blood vessels. Most common are the saccular (berry) aneurysms located at branch points in CIRCLE OF WILLIS at the base of the brain. Vessel rupture results in SUBARACHNOID HEMORRHAGE or INTRACRANIAL HEMORRHAGES. Giant aneurysms (>2.5 cm in diameter) may compress adjacent structures, including the OCULOMOTOR NERVE. (From Adams et al., Principles of Neurology, 6th ed, p841)" [] def: "Outpouching of BASILAR ARTERY at the base of the skull. The basilar artery is the most important artery in the posterior cerebral circulation." [] synonym: "Aneurysm, Anterior Cerebral Artery" EXACT [] synonym: "Aneurysm, Anterior Communicating Artery" EXACT [] synonym: "Aneurysm, Basilar Artery" EXACT [] synonym: "Aneurysm, Berry" EXACT [] synonym: "Aneurysm, Brain" EXACT [] synonym: "Aneurysm, Cerebral" EXACT [] synonym: "Aneurysm, Giant Intracranial" EXACT [] synonym: "Aneurysm, Intracranial" EXACT [] synonym: "Aneurysm, Intracranial Mycotic" EXACT [] synonym: "Aneurysm, Middle Cerebral Artery" EXACT [] synonym: "Aneurysm, Posterior Cerebral Artery" EXACT [] synonym: "Aneurysm, Posterior Communicating Artery" EXACT [] synonym: "Aneurysms, Basilar Artery" EXACT [] synonym: "Aneurysms, Berry" EXACT [] synonym: "Aneurysms, Brain" EXACT [] synonym: "Aneurysms, Cerebral" EXACT [] synonym: "Aneurysms, Giant Intracranial" EXACT [] synonym: "Aneurysms, Intracranial" EXACT [] synonym: "Aneurysms, Intracranial Mycotic" EXACT [] synonym: "Anterior Cerebral Artery Aneurysm" EXACT [] synonym: "Anterior Communicating Artery Aneurysm" EXACT [] synonym: "Artery Aneurysm, Basilar" EXACT [] synonym: "Artery Aneurysms, Basilar" EXACT [] synonym: "Basilar Artery Aneurysm" EXACT [] synonym: "Basilar Artery Aneurysms" EXACT [] synonym: "Berry Aneurysm" EXACT [] synonym: "Berry Aneurysms" EXACT [] synonym: "brain aneurysm" EXACT [] {comment="preferred label from MONDO"} synonym: "brain aneurysm" EXACT [DOID:10941] synonym: "Brain Aneurysms" EXACT [] synonym: "Cerebral Aneurysm" EXACT [] synonym: "Cerebral Aneurysms" EXACT [] synonym: "Giant Intracranial Aneurysm" EXACT [] synonym: "Giant Intracranial Aneurysms" EXACT [] synonym: "Intracranial Aneurysm" EXACT [] synonym: "intracranial aneurysm" RELATED [DOID:10941] synonym: "Intracranial Aneurysm, Giant" EXACT [] synonym: "Intracranial Aneurysms" EXACT [] synonym: "Intracranial Aneurysms, Giant" EXACT [] synonym: "Intracranial Mycotic Aneurysm" EXACT [] synonym: "Intracranial Mycotic Aneurysms" EXACT [] synonym: "Middle Cerebral Artery Aneurysm" EXACT [] synonym: "Mycotic Aneurysm, Intracranial" EXACT [] synonym: "Mycotic Aneurysms, Intracranial" EXACT [] synonym: "Posterior Cerebral Artery Aneurysm" EXACT [] synonym: "Posterior Communicating Artery Aneurysm" EXACT [] xref: DOID:10941 {source="EFO:0003870", source="MONDO:equivalentTo"} xref: MESH:D002532 {source="EFO:0003870", source="DOID:10941", source="MONDO:equivalentTo"} xref: MeSH:D002532 xref: MONDO:0005291 xref: NCIt:C27208 xref: SNOMEDCT:125236003 xref: SNOMEDCT:128609009 xref: SNOMEDCT:277196008 xref: UMLS:C0007766 {source="DOID:10941", source="MONDO:equivalentTo"} is_a: EFO:1000859 {source="DOID:10941"} ! cerebral arterial disease relationship: EFO:0000784 UBERON:0003499 ! has_disease_location brain blood vessel property_value: exactMatch DOID:10941 property_value: exactMatch http://identifiers.org/mesh/D002532 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007766 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003871 name: tongue neoplasm def: "A neoplasm (disease) that involves the tongue." [MONDO:patterns/location] def: "Tumors or cancer of the MOUTH." [] def: "Tumors or cancer of the TONGUE." [] synonym: "Cancer of the Tongue" EXACT [] synonym: "Cancer of Tongue" EXACT [] synonym: "Cancer, Oral" EXACT [] synonym: "Cancer, Tongue" EXACT [] synonym: "Cancers, Oral" EXACT [] synonym: "Cancers, Tongue" EXACT [] synonym: "NEOPL ORAL" EXACT [] synonym: "NEOPL TONGUE" EXACT [] synonym: "neoplasm of the tongue" EXACT [NCIT:C3416] synonym: "neoplasm of tongue" EXACT [MONDO:patterns/neoplasm, NCIT:C3416] synonym: "Neoplasm, Oral" EXACT [] synonym: "Neoplasm, Tongue" EXACT [] synonym: "Neoplasms, Oral" EXACT [] synonym: "Neoplasms, Tongue" EXACT [] synonym: "Oral Cancer" EXACT [] synonym: "Oral Cancers" EXACT [] synonym: "ORAL NEOPL" EXACT [] synonym: "Oral Neoplasm" EXACT [] synonym: "Oral Neoplasms" EXACT [] synonym: "Tongue Cancer" EXACT [] synonym: "Tongue Cancers" EXACT [] synonym: "TONGUE NEOPL" EXACT [] synonym: "tongue neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "tongue neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "Tongue Neoplasms" EXACT [] synonym: "tongue tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3416] synonym: "tongue tumour" EXACT OMO:0003005 [] synonym: "tumor of the tongue" EXACT [NCIT:C3416] synonym: "tumor of tongue" EXACT [MONDO:patterns/neoplasm, NCIT:C3416] synonym: "tumour of the tongue" EXACT OMO:0003005 [] synonym: "tumour of tongue" EXACT OMO:0003005 [] xref: DOID:8649 xref: ICD10:C02 xref: MedDRA:10061325 xref: MedDRA:10062129 xref: MeSH:D014062 xref: MONDO:0021240 xref: NCIT:C3416 {source="MONDO:equivalentTo"} xref: NCIt:C3416 xref: SCTID:126778001 {source="MONDO:equivalentTo"} is_a: EFO:0005950 {source="MONDO:Redundant", source="NCIT:C3416/inferred"} ! head and neck neoplasia is_a: EFO:0008549 ! digestive system neoplasm is_a: MONDO:0001165 ! tongue disorder relationship: EFO:0000784 UBERON:0001723 ! has_disease_location tongue property_value: exactMatch http://identifiers.org/snomedct/126778001 property_value: exactMatch NCIT:C3416 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003872 name: colitis def: "Inflammation of the COLON section of the large intestine (INTESTINE, LARGE), usually with symptoms such as DIARRHEA (often with blood and mucus), ABDOMINAL PAIN, and FEVER." [] def: "Inflammation of the colon." [NCIT:P378] synonym: "Colitides" EXACT [] synonym: "colitis" EXACT [MONDO:ambiguous] synonym: "colitis" EXACT [] {comment="preferred label from MONDO"} synonym: "colitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "colon inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "inflammation of colon" EXACT [] xref: DOID:0060180 {source="EFO:0003872", source="MONDO:equivalentTo"} xref: HP:0002583 {source="MONDO:otherHierarchy"} xref: ICD9:558.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10009887 xref: MedDRA:10009902 xref: MESH:D003092 {source="EFO:0003872", source="MONDO:equivalentTo", source="DOID:0060180"} xref: MeSH:D003092 xref: MONDO:0005292 xref: NCIT:C26723 {source="EFO:0003872", source="MONDO:equivalentTo", source="DOID:0060180"} xref: NCIt:C26723 xref: SCTID:64226004 {source="EFO:0003872", source="MONDO:equivalentTo", source="DOID:0060180"} xref: SNOMEDCT:64226004 xref: UMLS:C0009319 {source="MONDO:equivalentTo", source="DOID:0060180", source="NCIT:C26723"} is_a: EFO:0003767 {source="DOID:0060180"} ! inflammatory bowel disease is_a: EFO:1001463 ! gastroenteritis is_a: MONDO:0003409 {source="MESH:D003092", source="MONDO:Redundant"} ! colonic disorder relationship: EFO:0000784 UBERON:0001155 ! has_disease_location colon property_value: exactMatch DOID:0060180 property_value: exactMatch http://identifiers.org/mesh/D003092 property_value: exactMatch http://identifiers.org/snomedct/64226004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009319 property_value: exactMatch NCIT:C26723 property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: IAO:0000589 "colitis (disease)" xsd:string [Term] id: EFO:0003873 name: parotid neoplasm def: "A neoplasm (disease) that involves the parotid gland." [MONDO:patterns/location] synonym: "Cancer of Parotid" EXACT [] synonym: "Cancer of the Parotid" EXACT [] synonym: "Cancer, Parotid" EXACT [] synonym: "Cancers, Parotid" EXACT [] synonym: "NEOPL PAROTID" EXACT [] synonym: "neoplasm of parotid" EXACT [NCIT:C3314] synonym: "neoplasm of parotid gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3314] synonym: "neoplasm of the parotid" EXACT [NCIT:C3314] synonym: "neoplasm of the parotid gland" EXACT [NCIT:C3314] synonym: "Neoplasm, Parotid" EXACT [] synonym: "Neoplasms, Parotid" EXACT [] synonym: "Parotid Cancer" EXACT [] synonym: "Parotid Cancers" EXACT [] synonym: "Parotid Gland Neoplasm" EXACT [] synonym: "parotid gland neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "parotid gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "parotid gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3314] synonym: "parotid gland tumour" EXACT OMO:0003005 [] synonym: "PAROTID NEOPL" EXACT [] synonym: "parotid neoplasm" EXACT [NCIT:C3314] synonym: "Parotid Neoplasms" EXACT [] synonym: "parotid tumor" EXACT [NCIT:C3314] synonym: "parotid tumour" EXACT OMO:0003005 [] synonym: "tumor of parotid" EXACT [NCIT:C3314] synonym: "tumor of parotid gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3314] synonym: "tumor of the parotid" EXACT [NCIT:C3314] synonym: "tumor of the parotid gland" EXACT [NCIT:C3314] synonym: "tumour of parotid" EXACT OMO:0003005 [] synonym: "tumour of parotid gland" EXACT OMO:0003005 [] synonym: "tumour of the parotid" EXACT OMO:0003005 [] synonym: "tumour of the parotid gland" EXACT OMO:0003005 [] xref: MeSH:D010307 xref: MONDO:0021243 xref: NCIT:C3314 {source="MONDO:equivalentTo"} xref: NCIt:C3314 xref: SCTID:126788000 {source="MONDO:equivalentTo"} is_a: EFO:0007422 ! parotid disease is_a: MONDO:0021368 {source="MONDO:Redundant", source="NCIT:C3314"} ! neoplasm of major salivary gland relationship: EFO:0000784 UBERON:0001831 ! has_disease_location parotid gland property_value: exactMatch http://identifiers.org/snomedct/126788000 property_value: exactMatch NCIT:C3314 property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003874 name: flatfoot def: "A condition in which one or more of the arches of the foot have flattened out." [] def: "An anatomic deformity in which the arch of the foot collapses, resulting in the entire sole of the foot coming into complete or near-complete contact with the ground." [NCIT:P378] synonym: "fallen Arch" EXACT [NCIT:C34616] synonym: "Feet, Flat" EXACT [] synonym: "flat feet" EXACT [] synonym: "Flat Foot" EXACT [] synonym: "flat Foot" EXACT [NCIT:C34616] synonym: "Flatfeet" EXACT [] synonym: "flatfoot" EXACT [] {comment="preferred label from MONDO"} synonym: "Foot, Flat" EXACT [] synonym: "Pes Planus" EXACT [] xref: ICD9:734 {source="EFO:0003874"} xref: MESH:D005413 {source="EFO:0003874", source="MONDO:equivalentTo"} xref: MeSH:D005413 xref: MONDO:0005293 xref: NCIT:C34616 {source="EFO:0003874", source="MONDO:equivalentTo"} xref: NCIt:C34616 xref: SCTID:53226007 {source="EFO:0003874", source="MONDO:equivalentTo"} xref: SNOMEDCT:53226007 is_a: EFO:0002461 {source="EFO:0003874"} ! skeletal system disease relationship: EFO:0000784 UBERON:0002387 ! has_disease_location pes property_value: exactMatch http://identifiers.org/mesh/D005413 property_value: exactMatch http://identifiers.org/snomedct/53226007 property_value: exactMatch NCIT:C34616 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003875 name: peripheral vascular disease def: "Any disorder affecting blood flow through the veins or arteries outside of the heart." [NCIT:C35136] def: "Pathological processes involving any one of the BLOOD VESSELS in the vasculature outside the HEART." [] synonym: "Angiopathies, Peripheral" EXACT [] synonym: "Angiopathy, Peripheral" EXACT [] synonym: "arterial occlusive disease" EXACT [DOID:341] synonym: "DIS PERIPHERAL VASCULAR" EXACT [] synonym: "Disease, Peripheral Vascular" EXACT [] synonym: "disease, peripheral vascular" EXACT [NCIT:C35136] synonym: "Diseases, Peripheral Vascular" EXACT [] synonym: "Peripheral Angiopathies" EXACT [] synonym: "Peripheral Angiopathy" EXACT [] synonym: "PERIPHERAL VASCULAR DIS" EXACT [] synonym: "peripheral vascular disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Peripheral Vascular Diseases" EXACT [] synonym: "peripheral vascular disorder" EXACT [NCIT:C35136] synonym: "VASCULAR DIS PERIPHERAL" EXACT [] synonym: "Vascular Disease, Peripheral" EXACT [] synonym: "vascular disease, peripheral" EXACT [NCIT:C35136] synonym: "Vascular Diseases, Peripheral" EXACT [] xref: DOID:341 {source="MONDO:equivalentTo", source="EFO:0003875"} xref: ICD10:I73 xref: ICD9:443.81 {source="DOID:341"} xref: MedDRA:10034633 xref: MedDRA:10034635 xref: MESH:D016481 {source="MONDO:relatedTo", source="DOID:341"} xref: MESH:D016491 {source="MONDO:equivalentTo", source="EFO:0003875"} xref: MeSH:D016491 xref: MONDO:0005294 xref: NCIT:C35136 {source="MONDO:equivalentTo"} xref: SNOMEDCT:400047006 is_a: EFO:0004264 {source="DOID:341", source="EFO:0003875", source="MESH:D016491", source="NCIT:C35136/inferred"} ! vascular disease property_value: exactMatch DOID:341 property_value: exactMatch http://identifiers.org/mesh/D016491 property_value: exactMatch NCIT:C35136 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003876 name: intermittent vascular claudication def: "A symptom complex characterized by pain and weakness in SKELETAL MUSCLE group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial STENOSIS; muscle ISCHEMIA; and accumulation of LACTATE." [] def: "A symptom complex characterized by pain and weakness in skeletal muscle group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial stenosis; muscle ischemia; and accumulation of lactate." [MESH:D007383] synonym: "Charcot's syndrome" EXACT [DOID:3669] synonym: "Claudication, Intermittent" EXACT [] synonym: "Intermittent Claudication" EXACT [] synonym: "intermittent claudication" EXACT [DOID:3669] synonym: "intermittent vascular claudication" EXACT [] {comment="preferred label from MONDO"} xref: DOID:3669 {source="EFO:0003876", source="MONDO:equivalentTo"} xref: ICD9:440.21 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D007383 {source="EFO:0003876", source="MONDO:equivalentTo", source="DOID:3669"} xref: MeSH:D007383 xref: MONDO:0005295 xref: SCTID:63491006 {source="EFO:0003876", source="MONDO:equivalentTo", source="DOID:3669"} xref: SNOMEDCT:63491006 xref: UMLS:C0021775 {source="MONDO:equivalentTo", source="DOID:3669"} is_a: EFO:0003875 {source="EFO:0003876"} ! peripheral vascular disease is_a: MONDO:0002277 {source="DOID:3669", source="MESH:D007383"} ! arteriosclerosis disorder property_value: exactMatch DOID:3669 property_value: exactMatch http://identifiers.org/mesh/D007383 property_value: exactMatch http://identifiers.org/snomedct/63491006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0021775 property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003877 name: sleep apnea def: "A disorder characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep." [MESH:D012891, MONDO:cjm] def: "Disorders characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. Sleep apnea syndromes are divided into central (see SLEEP APNEA, CENTRAL), obstructive (see SLEEP APNEA, OBSTRUCTIVE), and mixed central-obstructive types." [] synonym: "Apnea Syndrome, Sleep" EXACT [] synonym: "apnea syndrome, sleep" RELATED [MESH:D012891] synonym: "Apnea Syndromes, Sleep" EXACT [] synonym: "apnea syndromes, sleep" RELATED [MESH:D012891] synonym: "Apnea, Sleep" EXACT [] synonym: "apnea, sleep" RELATED [MESH:D012891] synonym: "Apneas, Sleep" EXACT [] synonym: "apneas, sleep" RELATED [MESH:D012891] synonym: "Breathing, Sleep-Disordered" EXACT [] synonym: "breathing, sleep-disordered" RELATED [MESH:D012891] synonym: "breathing-related sleep disorder" BROAD [] synonym: "Hypersomnia with Periodic Respiration" EXACT [] synonym: "hypersomnia with periodic respiration" RELATED [MESH:D012891] synonym: "Hypopnea, Sleep" EXACT [] synonym: "hypopnea, sleep" RELATED [MESH:D012891] synonym: "Hypopneas, Sleep" EXACT [] synonym: "hypopneas, sleep" RELATED [MESH:D012891] synonym: "Mixed Central and Obstructive Sleep Apnea" EXACT [] synonym: "mixed central and obstructive sleep apnea" RELATED [MESH:D012891] synonym: "Mixed Sleep Apnea" EXACT [] synonym: "mixed sleep apnea" RELATED [MESH:D012891] synonym: "Mixed Sleep Apneas" EXACT [] synonym: "mixed sleep Apneas" RELATED [MESH:D012891] synonym: "SDB" EXACT ABBREVIATION [NCIT:C148023] synonym: "sleep apnea" EXACT [MESH:D012891, MONDO:ambiguous] synonym: "Sleep Apnea Syndrome" EXACT [] synonym: "sleep apnea syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "sleep apnea syndrome" EXACT [MESH:D012891] synonym: "Sleep Apnea Syndromes" EXACT [] synonym: "Sleep Apnea, Mixed" EXACT [] synonym: "sleep apnea, mixed" RELATED [MESH:D012891] synonym: "Sleep Apnea, Mixed Central and Obstructive" EXACT [] synonym: "sleep apnea, mixed central and obstructive" RELATED [MESH:D012891] synonym: "Sleep Apneas" EXACT [] synonym: "sleep apneas" EXACT [MESH:D012891] synonym: "Sleep Apneas, Mixed" EXACT [] synonym: "sleep apneas, mixed" RELATED [MESH:D012891] synonym: "Sleep Disordered Breathing" EXACT [] synonym: "sleep disordered breathing" EXACT [MESH:D012891, NCIT:C148023] synonym: "Sleep Hypopnea" EXACT [] synonym: "sleep hypopnea" RELATED [MESH:D012891] synonym: "Sleep Hypopneas" EXACT [] synonym: "sleep hypopneas" RELATED [MESH:D012891] synonym: "Sleep-Disordered Breathing" EXACT [] synonym: "sleep-disordered breathing" EXACT [MESH:D012891, NCIT:C148023] xref: DOID:0050847 {source="MONDO:equivalentTo", source="EFO:0003877"} xref: HP:0010535 {source="MONDO:otherHierarchy"} xref: ICD10CM:G47.3 {source="MONDO:equivalentTo"} xref: ICD9:780.57 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10040975 xref: MESH:D012891 {source="MONDO:equivalentTo", source="EFO:0003877"} xref: MeSH:D012891 xref: MONDO:0005296 xref: NCIT:C148023 {source="MONDO:equivalentTo"} xref: NCIt:C26884 xref: SCTID:111489007 {source="MONDO:equivalentTo"} xref: SCTID:73430006 {source="MONDO:equivalentTo", source="EFO:0003877"} xref: SNOMEDCT:73430006 is_a: EFO:0000684 {source="EFO:0003877", source="MESH:D012891/inferred", source="NCIT:C148023/inferred"} ! respiratory system disease is_a: MONDO:0003406 {source="DOID:0050847", source="EFO:0003877", source="ICD10CM:G47.3", source="MESH:D012891/inferred", source="MONDO:Redundant"} ! sleep-wake disorder property_value: exactMatch DOID:0050847 property_value: exactMatch http://identifiers.org/mesh/D012891 property_value: exactMatch http://identifiers.org/snomedct/111489007 property_value: exactMatch http://identifiers.org/snomedct/73430006 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G47.3 property_value: exactMatch NCIT:C148023 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003878 name: urethritis def: "Inflammation involving the URETHRA. Similar to CYSTITIS, clinical symptoms range from vague discomfort to painful urination (DYSURIA), urethral discharge, or both." [] def: "Inflammation of the urethra." [NCIT:P378] synonym: "inflammation of urethra" EXACT [] synonym: "non-gonococcal urethritis" EXACT [DOID:1343, NCIT:C27079] synonym: "Nongonococcal urethritis" NARROW [DOID:1343] synonym: "urethra inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "Urethritides" EXACT [] synonym: "urethritis" EXACT [] {comment="preferred label from MONDO"} synonym: "urethritis" EXACT [MONDO:ambiguous, NCIT:C26904] synonym: "urethritis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:1343 {source="MONDO:equivalentTo", source="EFO:0003878"} xref: HP:0500006 {source="MONDO:otherHierarchy"} xref: ICD10:N34 xref: ICD9:099.40 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:597.80 {source="DOID:1343"} xref: MedDRA:10046480 xref: MedDRA:10046491 xref: MedDRA:10046492 xref: MESH:D014526 {source="DOID:1343", source="MONDO:equivalentTo", source="EFO:0003878"} xref: MeSH:D014526 xref: MONDO:0005297 xref: NCIT:C26904 {source="DOID:1343", source="MONDO:equivalentTo", source="EFO:0003878"} xref: NCIt:C26904 xref: SCTID:84619001 {source="MONDO:equivalentTo"} xref: SNOMEDCT:31822004 is_a: EFO:0009689 {source="DOID:1343", source="MESH:D014526", source="MONDO:Redundant", source="NCIT:C26904/inferred"} ! urethral disease is_a: EFO:0009903 ! inflammatory disease is_a: MONDO:0005247 ! bacterial urinary tract infection relationship: EFO:0000784 UBERON:0000057 ! has_disease_location urethra property_value: exactMatch DOID:1343 property_value: exactMatch http://identifiers.org/mesh/D014526 property_value: exactMatch http://identifiers.org/snomedct/84619001 property_value: exactMatch NCIT:C26904 property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: IAO:0000589 "urethritis (disease)" xsd:string [Term] id: EFO:0003879 name: obsolete_aortic valve def: "The valve between the left ventricle and the ascending aorta which prevents backflow into the left ventricle." [] synonym: "Aortic Valves" EXACT [] synonym: "Valve, Aortic" EXACT [] synonym: "Valves, Aortic" EXACT [] xref: MeSH:D001021 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002137\nlabel: aortic valve" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002137 [Term] id: EFO:0003880 name: appendiceal neoplasm def: "A benign or malignant neoplasm involving the appendix." [NCIT:P378] def: "Tumors of the APPENDIX." [] synonym: "APPENDICEAL NEOPL" EXACT [] synonym: "appendiceal neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "Appendiceal Neoplasms" EXACT [] synonym: "Appendix Neoplasm" EXACT [] synonym: "appendix neoplasm" EXACT [DOID:11240, NCIT:C4434] synonym: "appendix tumor" EXACT [NCIT:C4434] synonym: "appendix tumour" EXACT OMO:0003005 [] synonym: "NEOPL APPENDICEAL" EXACT [] synonym: "neoplasm of appendix" EXACT [NCIT:C4434] synonym: "neoplasm of the appendix" EXACT [NCIT:C4434] synonym: "neoplasm of vermiform appendix" EXACT [MONDO:patterns/neoplasm] synonym: "Neoplasm, Appendiceal" EXACT [] synonym: "Neoplasms, Appendiceal" EXACT [] synonym: "tumor of appendix" EXACT [NCIT:C4434] synonym: "tumor of the appendix" EXACT [NCIT:C4434] synonym: "tumor of vermiform appendix" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of appendix" EXACT OMO:0003005 [] synonym: "tumour of the appendix" EXACT OMO:0003005 [] synonym: "tumour of vermiform appendix" EXACT OMO:0003005 [] synonym: "vermiform appendix neoplasm" EXACT [] synonym: "vermiform appendix neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "vermiform appendix tumor" EXACT [MONDO:patterns/neoplasm] synonym: "vermiform appendix tumour" EXACT OMO:0003005 [] xref: DOID:11240 {source="MONDO:equivalentTo"} xref: MESH:D001063 {source="MONDO:equivalentTo", source="DOID:11240"} xref: MeSH:D001063 xref: MONDO:0001236 xref: NCIT:C4434 {source="MONDO:equivalentTo", source="DOID:11240"} xref: NCIt:C4434 xref: SCTID:126846004 {source="MONDO:equivalentTo", source="DOID:11240"} xref: UMLS:C0003614 {source="MONDO:equivalentTo", source="DOID:11240", source="NCIT:C4434"} is_a: EFO:0009255 {source="MESH:D001063", source="MONDO:Redundant"} ! cecal neoplasm is_a: EFO:0009542 ! disorder of appendix property_value: exactMatch DOID:11240 property_value: exactMatch http://identifiers.org/mesh/D001063 property_value: exactMatch http://identifiers.org/snomedct/126846004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003614 property_value: exactMatch NCIT:C4434 property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003881 name: hysterectomy def: "Excision of the uterus." [] synonym: "Hysterectomies" EXACT [] xref: MeSH:D007044 xref: NCIt:C15256 xref: SNOMEDCT:236886002 is_a: EFO:0002571 ! medical procedure property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003882 name: osteoporosis def: "A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss)." [NCIT:C3298] def: "Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis." [] synonym: "AGE RELAT OSTEOPOROSIS" EXACT [] synonym: "Age Related Osteoporosis" EXACT [] synonym: "Age-Related Bone Loss" EXACT [] synonym: "Age-Related Bone Losses" EXACT [] synonym: "Age-Related Osteoporoses" EXACT [] synonym: "Age-Related Osteoporosis" EXACT [] synonym: "BONE LOSS AGE RELAT" EXACT [] synonym: "Bone Loss, Age Related" EXACT [] synonym: "Bone Loss, Age-Related" EXACT [] synonym: "Bone Losses, Age-Related" EXACT [] synonym: "bone mineral density variation QTL, osteoporosis" EXACT [OMIM:166710, OMIM:genemap2] synonym: "fracture, hip, susceptibility to" RELATED [OMIM:166710] synonym: "Osteoporoses" EXACT [] synonym: "Osteoporoses, Age-Related" EXACT [] synonym: "Osteoporoses, Senile" EXACT [] synonym: "osteoporosis" EXACT [] {comment="preferred label from MONDO"} synonym: "OSTEOPOROSIS AGE RELAT" EXACT [] synonym: "Osteoporosis, Age Related" EXACT [] synonym: "Osteoporosis, Age-Related" EXACT [] synonym: "osteoporosis, involutional" RELATED [OMIM:166710] synonym: "Osteoporosis, Post Traumatic" EXACT [] synonym: "Osteoporosis, Post-Traumatic" EXACT [] synonym: "osteoporosis, postmenopausal" EXACT [OMIM:166710, OMIM:genemap2] synonym: "osteoporosis, postmenopausal, susceptibility" EXACT [OMIM:166710, OMIM:genemap2] synonym: "Osteoporosis, Senile" EXACT [] synonym: "osteoporosis, susceptibility to" EXACT [OMIM:166710, OMIM:genemap2] synonym: "Post-Traumatic Osteoporoses" EXACT [] synonym: "Post-Traumatic Osteoporosis" EXACT [] synonym: "Senile Osteoporoses" EXACT [] synonym: "Senile Osteoporosis" EXACT [] xref: DOID:11476 {source="EFO:0003882", source="MONDO:equivalentTo"} xref: ICD10:M80 xref: ICD10:M81 xref: ICD10:M82 xref: ICD10CM:M81 {source="MONDO:equivalentTo"} xref: ICD9:733.0 {source="EFO:0003882", source="DOID:11476"} xref: ICD9:733.00 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11476"} xref: ICD9:733.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10031282 xref: MedDRA:10031289 xref: MESH:D010024 {source="EFO:0003882", source="MONDO:equivalentTo", source="DOID:11476"} xref: MeSH:D010024 xref: MONDO:0005298 xref: NCIT:C3298 {source="EFO:0003882", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:11476"} xref: NCIt:C3298 xref: OMIM:166710 {source="EFO:0003882", source="MONDO:equivalentTo", source="DOID:11476"} xref: SCTID:64859006 {source="EFO:0003882", source="MONDO:equivalentTo", source="DOID:11476"} xref: SNOMEDCT:64859006 is_a: MONDO:0000837 {source="DOID:11476"} ! bone resorption disease is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. relationship: EFO:0000784 UBERON:0001474 ! has_disease_location bone element property_value: exactMatch DOID:11476 property_value: exactMatch http://identifiers.org/mesh/D010024 property_value: exactMatch http://identifiers.org/snomedct/64859006 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/M81 property_value: exactMatch https://omim.org/entry/166710 property_value: exactMatch NCIT:C3298 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: EFO:0003883 name: obsolete_brain ischemia def: "Localized reduction of blood flow to brain tissue due to arterial obstruction or systemic hypoperfusion. This frequently occurs in conjunction with brain hypoxia (HYPOXIA, BRAIN). Prolonged ischemia is associated with BRAIN INFARCTION." [] synonym: "Brain Ischemias" EXACT [] synonym: "Cerebral Ischemia" EXACT [] synonym: "Cerebral Ischemias" EXACT [] synonym: "ENCEPH ISCHEMIC" EXACT [] synonym: "Encephalopathy, Ischemic" EXACT [] synonym: "Ischemia, Brain" EXACT [] synonym: "Ischemia, Cerebral" EXACT [] synonym: "Ischemias, Cerebral" EXACT [] synonym: "ISCHEMIC ENCEPH" EXACT [] synonym: "Ischemic Encephalopathies" EXACT [] synonym: "Ischemic Encephalopathy" EXACT [] xref: DOID:2316 xref: MeSH:D002545 xref: SNOMEDCT:287731003 xref: SNOMEDCT:389100007 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.74" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use HP_0002637 instead" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HP_0002637 [Term] id: EFO:0003884 name: chronic kidney disease def: "Conditions in which the KIDNEYS perform below the normal level for more than three months. Chronic kidney insufficiency is classified by five stages according to the decline in GLOMERULAR FILTRATION RATE and the degree of kidney damage (as measured by the level of PROTEINURIA). The most severe form is the end-stage renal disease (CHRONIC KIDNEY FAILURE). (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002)" [] def: "Impairment of the renal function secondary to chronic kidney damage persisting for three or more months." [NCIT:C80078] def: "The end-stage of CHRONIC RENAL INSUFFICIENCY. It is characterized by the severe irreversible kidney damage (as measured by the level of PROTEINURIA) and the reduction in GLOMERULAR FILTRATION RATE to less than 15 ml per min (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002). These patients generally require HEMODIALYSIS or KIDNEY TRANSPLANTATION." [] synonym: "chronic kidney disease" EXACT [NCIT:C80078] synonym: "chronic kidney disease" EXACT [] {comment="preferred label from MONDO"} synonym: "chronic kidney failure" EXACT [] synonym: "Chronic Kidney Insufficiencies" EXACT [] synonym: "Chronic Kidney Insufficiency" EXACT [] synonym: "chronic renal disease" EXACT [DOID:784, NCIT:C80078] synonym: "Chronic Renal Failure" EXACT [] synonym: "chronic renal failure syndrome" NARROW [DOID:784] synonym: "Chronic Renal Insufficiencies" EXACT [] synonym: "chronic renal insufficiency" EXACT [] synonym: "chronic renal insufficiency" RELATED [NCIT:C80078] synonym: "CKD" EXACT ABBREVIATION [DOID:784] synonym: "CKD - chronic kidney disease" EXACT [NCIT:C80078] synonym: "Disease, End-Stage Kidney" EXACT [] synonym: "Disease, End-Stage Renal" EXACT [] synonym: "END STAGE KIDNEY DIS" EXACT [] synonym: "End Stage Kidney Disease" EXACT [] synonym: "END STAGE RENAL DIS" EXACT [] synonym: "End Stage Renal Disease" EXACT [] synonym: "End-Stage Kidney Disease" EXACT [] synonym: "End-Stage Renal Disease" EXACT [] synonym: "End-Stage Renal Failure" EXACT [] synonym: "ESRD" EXACT [] synonym: "kidney disease, chronic" EXACT [MONDO:patterns/chronic] synonym: "Kidney Disease, End-Stage" EXACT [] synonym: "Kidney Failure, Chronic" EXACT [] synonym: "Kidney Insufficiencies, Chronic" EXACT [] synonym: "Kidney Insufficiency, Chronic" EXACT [] synonym: "RENAL DIS END STAGE" EXACT [] synonym: "Renal Disease, End Stage" EXACT [] synonym: "Renal Disease, End-Stage" EXACT [] synonym: "renal failure - chronic" EXACT [DOID:784] synonym: "Renal Failure, Chronic" EXACT [] synonym: "Renal Failure, End Stage" EXACT [] synonym: "Renal Failure, End-Stage" EXACT [] synonym: "Renal Insufficiencies, Chronic" EXACT [] synonym: "Renal Insufficiency, Chronic" EXACT [] xref: DOID:784 {source="EFO:0003884", source="MONDO:equivalentTo"} xref: ICD10:N18 xref: ICD10CM:N18.9 {source="MONDO:equivalentTo", source="DOID:784"} xref: ICD9:585 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:585.6 {source="EFO:0003884", source="DOID:784"} xref: MedDRA:10038444 xref: MedDRA:10064848 xref: MESH:D007676 {source="EFO:0003884", source="MONDO:equivalentTo", source="DOID:784"} xref: MeSH:D007676 xref: MeSH:D051436 xref: MONDO:0005300 xref: NCIT:C80078 {source="EFO:0003884", source="MONDO:equivalentTo"} xref: NCIt:C80078 xref: SCTID:709044004 {source="MONDO:equivalentTo"} xref: SNOMEDCT:46177005 xref: SNOMEDCT:90688005 xref: UMLS:C0022661 {source="MONDO:equivalentTo", source="NCIT:C9438", source="DOID:784"} is_a: EFO:0003086 ! kidney disease is_a: EFO:0009714 ! chronic disease intersection_of: EFO:0003086 ! kidney disease intersection_of: has_modifier HP:0011010 ! Chronic property_value: exactMatch DOID:784 property_value: exactMatch http://identifiers.org/mesh/D007676 property_value: exactMatch http://identifiers.org/snomedct/709044004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022661 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/N18.9 property_value: exactMatch NCIT:C80078 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003885 name: obsolete_multiple sclerosis def: "An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur. (Adams et al., Principles of Neurology, 6th ed, p903)" [] synonym: "Disseminated Sclerosis" EXACT [] synonym: "MS" EXACT [] synonym: "MS (Multiple Sclerosis)" EXACT [] synonym: "MULTIPLE SCLEROSIS ACUTE FULMINATING" EXACT [] synonym: "Multiple Sclerosis, Acute Fulminating" EXACT [] synonym: "Sclerosis, Disseminated" EXACT [] synonym: "Sclerosis, Multiple" EXACT [] xref: DOID:2377 xref: ICD10:G35 xref: ICD9:340 xref: MedDRA:10028245 xref: MeSH:D009103 xref: NCIt:C3243 xref: OMIM:126200 xref: OMIM:612595 xref: OMIM:614810 xref: SNOMEDCT:24700007 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.38.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replaced with Mondo term\nsee https://github.com/ebispot/efo/issues/1381" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/MONDO_0005301 [Term] id: EFO:0003886 name: obsolete_metacarpal bone def: "The five cylindrical bones of the METACARPUS, articulating with the CARPAL BONES proximally and the PHALANGES OF FINGERS distally." [] synonym: "Bones, Metacarpal" EXACT [] synonym: "Metacarpal Bones" EXACT [] synonym: "Metacarpals" EXACT [] xref: MeSH:D050279 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002374\nlabel: metacarpal bone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002374 [Term] id: EFO:0003887 name: obsolete_thrombophlebitis property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.57" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/HP_0004418 instead" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HP_0004418 [Term] id: EFO:0003888 name: attention deficit hyperactivity disorder def: "A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolescence although a minority experience the full complement of symptoms into mid-adulthood. (From DSM-IV)" [] def: "A disorder characterized by a marked pattern of inattention and/or hyperactivity-impulsivity that is inconsistent with developmental level and clearly interferes with functioning in at least two settings (e.g. at home and at school). When present, the symptoms of hyperactivity are most often present before the age of 7 years. There are three recognized presentations or subtypes from most to least common: combined type, inattentive/distractible type, hyperactive/impulsive type." [NCIT:C97160] synonym: "ADDH" EXACT [] synonym: "ADHD" EXACT [] synonym: "ADHD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "ATTENTION DEFICIT DIS" EXACT [] synonym: "ATTENTION DEFICIT DIS WITH HYPERACTIVITY" EXACT [] synonym: "Attention Deficit Disorder" EXACT [] synonym: "Attention Deficit Disorder with Hyperactivity" EXACT [] synonym: "Attention Deficit Disorders" EXACT [] synonym: "Attention Deficit Disorders with Hyperactivity" EXACT [] synonym: "ATTENTION DEFICIT HYPERACTIVITY DIS" EXACT [] synonym: "attention deficit hyperactivity disorder" EXACT [NCIT:C97160] synonym: "Attention Deficit Hyperactivity Disorders" EXACT [] synonym: "attention deficit-hyperactivity disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "attention deficit-hyperactivity disorder" EXACT [MONDO:Lexical] synonym: "attention deficit/hyperactivity disorder" EXACT [NCIT:C97160] synonym: "Brain Dysfunction, Minimal" EXACT [] synonym: "Deficit Disorder, Attention" EXACT [] synonym: "Deficit Disorders, Attention" EXACT [] synonym: "Disorder, Attention Deficit" EXACT [] synonym: "Disorders, Attention Deficit" EXACT [] synonym: "Dysfunction, Minimal Brain" EXACT [] synonym: "Hyperkinetic Syndrome" EXACT [] synonym: "Minimal Brain Dysfunction" EXACT [] synonym: "Syndromes, Hyperkinetic" EXACT [] xref: DOID:1094 xref: ICD9:314.01 xref: MedDRA:10003735 xref: MedDRA:10003736 xref: MedDRA:10083622 xref: MeSH:D001289 xref: MONDO:0007743 xref: NCIT:C97160 {source="MONDO:equivalentTo"} xref: NCIt:C97160 xref: OMIM:143465 xref: OMIM:613003 xref: SNOMEDCT:406506008 is_a: MONDO:0000592 {source="DOID:1094"} ! specific developmental disorder property_value: exactMatch NCIT:C97160 property_value: excluded_subClassOf MONDO:0005302 {source="DC-OMIM:143465"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: EFO:0003889 name: functional laterality def: "Behavioral manifestations of cerebral dominance in which there is preferential use and superior functioning of either the left or the right side, as in the preferred use of the right hand or right foot." [] synonym: "Ambidexterity" EXACT [] synonym: "Behavioral Laterality" EXACT [] synonym: "Handedness" EXACT [] synonym: "Laterality of Motor Control" EXACT [] synonym: "Laterality, Behavioral" EXACT [] synonym: "Laterality, Functional" EXACT [] synonym: "Mirror Writing" EXACT [] synonym: "Mirror Writings" EXACT [] synonym: "Motor Control Laterality" EXACT [] synonym: "Writing, Mirror" EXACT [] synonym: "Writings, Mirror" EXACT [] xref: MedDRA:10075305 xref: MeSH:D007839 xref: OMIM:139900 xref: SNOMEDCT:57427004 is_a: HP:0000707 ! Abnormality of the nervous system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003890 name: drug dependence def: "Disorders related to drug abuse, the side effects of a medication, or toxin exposure." [] def: "Drug dependence - replaced the term \"drug addiction\" and is defined as a state, psychic and sometimes also physical, resulting from the interaction between a living organism and a drug, characterized by behavioral and other responses that always include a compulsion to take the drug on a continuous or periodic basis in order to experience its psychic effects, and sometimes to avoid the discomfort of its absence. Tolerance may or may not be present. A person may be dependent on more than one drug." [NCIT:P378] synonym: "Abuse, Drug" EXACT [] synonym: "Addiction, Drug" EXACT [] synonym: "chemical dependence" EXACT [NCIT:C3894] synonym: "Dependence, Drug" EXACT [] synonym: "Disorder, Drug Use" EXACT [] synonym: "Drug Abuse" EXACT [] synonym: "Drug Addiction" EXACT [] synonym: "drug dependence" EXACT [] {comment="preferred label from MONDO"} synonym: "Drug Habituation" EXACT [] synonym: "Drug Usage" EXACT [] synonym: "DRUG USE DIS" EXACT [] synonym: "Drug Use Disorder" EXACT [] synonym: "Drug Use Disorders" EXACT [] synonym: "Habituation, Drug" EXACT [] synonym: "Usage, Drug" EXACT [] xref: DOID:9974 {source="MONDO:equivalentTo", source="EFO:0003890"} xref: ICD10:F13 xref: ICD10:F16 xref: ICD10:F18 xref: ICD9:304 {source="EFO:0003890"} xref: ICD9:304.6 {source="DOID:9974"} xref: ICD9:304.60 {source="DOID:9974", source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:304.90 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10013663 xref: MedDRA:10013675 xref: MedDRA:10013676 xref: MedDRA:10013677 xref: MeSH:D019966 xref: MONDO:0005303 xref: NCIT:C3894 {source="MONDO:equivalentTo", source="EFO:0003890"} xref: NCIt:C3894 xref: SCTID:191816009 {source="MONDO:equivalentTo", source="EFO:0003890"} xref: SNOMEDCT:191816009 is_a: EFO:0000677 ! mental or behavioural disorder is_a: MONDO:0004938 {source="DOID:9974", source="NCIT:C3894"} ! substance dependence property_value: exactMatch DOID:9974 property_value: exactMatch http://identifiers.org/snomedct/191816009 property_value: exactMatch NCIT:C3894 property_value: excluded_subClassOf MONDO:0005084 {source="EFO:0003890"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003891 name: biliary tract neoplasm def: "A neoplasm that involves the biliary tract." [MONDO:patterns/location] synonym: "biliary tract neoplasm" EXACT [MONDO:ambiguous] synonym: "biliary tract neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "biliary tract neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "biliary tract neoplasm (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "biliary tree neoplasm" EXACT [] synonym: "biliary tree neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "biliary tree tumor" EXACT [MONDO:patterns/neoplasm] synonym: "biliary tree tumour" EXACT OMO:0003005 [] synonym: "neoplasm of biliary tree" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of extrahepatic bile ducts" EXACT [DOID:0050625] synonym: "tumor of biliary tree" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of biliary tree" EXACT OMO:0003005 [] synonym: "tumour of the extrahepatic bile duct" RELATED OMO:0003005 [] xref: DOID:0050625 {source="EFO:0003891", source="MONDO:equivalentTo"} xref: EFO:0003891 {source="MONDO:equivalentTo"} xref: HP:0100574 {source="MONDO:otherHierarchy"} xref: MONDO:0005304 xref: ONCOTREE:BILIARYTRACT {source="MONDO:equivalentTo"} xref: SCTID:126853008 {source="MONDO:equivalentTo"} xref: UMLS:C0345913 {source="MONDO:equivalentTo", source="DOID:0050625"} is_a: EFO:0009534 ! biliary tract disease is_a: MONDO:0024477 ! liver and intrahepatic bile duct neoplasm relationship: EFO:0000784 UBERON:0002107 ! has_disease_location liver property_value: closeMatch http://identifiers.org/mesh/D001661 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0005423 property_value: closeMatch NCIT:C12678 property_value: exactMatch DOID:0050625 property_value: exactMatch DOID:0050625 property_value: exactMatch http://identifiers.org/snomedct/126853008 property_value: exactMatch http://identifiers.org/snomedct/126853008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345913 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/neoplasm.yaml property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3673 xsd:anyURI property_value: IAO:0000589 "biliary tract neoplasm (disease)" xsd:string [Term] id: EFO:0003892 name: pulmonary function measurement def: "Measurement of the various processes involved in the act of respiration: inspiration, expiration, oxygen and carbon dioxide exchange, lung volume and compliance, etc." [] synonym: "FUNCTION TEST PULM" EXACT [] synonym: "Function Test, Lung" EXACT [] synonym: "Function Test, Pulmonary" EXACT [] synonym: "Function Test, Respiratory" EXACT [] synonym: "FUNCTION TESTS PULM" EXACT [] synonym: "Function Tests, Lung" EXACT [] synonym: "Function Tests, Pulmonary" EXACT [] synonym: "Function Tests, Respiratory" EXACT [] synonym: "Lung Function Test" EXACT [] synonym: "Lung Function Tests" EXACT [] synonym: "PULM FUNCTION TEST" EXACT [] synonym: "PULM FUNCTION TESTS" EXACT [] synonym: "pulmonary function test" EXACT [] synonym: "Pulmonary Function Tests" EXACT [] synonym: "Respiratory Function Test" EXACT [] synonym: "Respiratory Function Tests" EXACT [] synonym: "TEST PULM FUNCTION" EXACT [] synonym: "Test, Lung Function" EXACT [] synonym: "Test, Pulmonary Function" EXACT [] synonym: "Test, Respiratory Function" EXACT [] synonym: "TESTS PULM FUNCTION" EXACT [] synonym: "Tests, Lung Function" EXACT [] synonym: "Tests, Pulmonary Function" EXACT [] synonym: "Tests, Respiratory Function" EXACT [] xref: MeSH:D012129 xref: NCIt:C38081 is_a: EFO:0001444 ! measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 UBERON:0001004 ! is_about respiratory system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003893 name: ovarian neoplasm def: "A benign, borderline, or malignant neoplasm involving the ovary." [NCIT:C4984] def: "Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." [] synonym: "Cancer of Ovary" EXACT [] synonym: "NEOPL OVARIAN" EXACT [] synonym: "neoplasm of ovary" EXACT [MONDO:patterns/neoplasm, NCIT:C4984] synonym: "neoplasm of the ovary" EXACT [NCIT:C4984] synonym: "Neoplasm, Ovarian" EXACT [] synonym: "Neoplasm, Ovary" EXACT [] synonym: "Neoplasms, Ovarian" EXACT [] synonym: "Neoplasms, Ovary" EXACT [] synonym: "OVARIAN NEOPL" EXACT [] synonym: "ovarian neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "ovarian neoplasm" EXACT [NCIT:C4984] synonym: "Ovarian Neoplasms" EXACT [] synonym: "ovarian tumor" EXACT [NCIT:C4984] synonym: "ovarian tumors" EXACT [NCIT:C4984] synonym: "ovarian tumour" EXACT OMO:0003005 [] synonym: "ovarian tumours" EXACT OMO:0003005 [] synonym: "OVARY NEOPL" EXACT [] synonym: "Ovary Neoplasm" EXACT [] synonym: "ovary neoplasm" EXACT [] synonym: "ovary neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "Ovary Neoplasms" EXACT [] synonym: "ovary tumor" EXACT [MONDO:patterns/neoplasm] synonym: "ovary tumour" EXACT OMO:0003005 [] synonym: "tumor of ovary" EXACT [MONDO:patterns/neoplasm, NCIT:C4984] synonym: "tumor of the ovary" EXACT [NCIT:C4984] synonym: "tumour of ovary" EXACT OMO:0003005 [] synonym: "tumour of the ovary" EXACT OMO:0003005 [] xref: ICD10:C56 xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10061535 xref: MeSH:D010051 xref: MONDO:0021068 xref: NCIT:C4984 {source="MONDO:equivalentTo"} xref: NCIt:C4984 xref: SCTID:123843001 {source="MONDO:equivalentTo"} xref: UMLS:CN236629 {source="MONDO:equivalentTo"} is_a: EFO:0005771 {source="MONDO:Redundant", source="NCIT:C4984"} ! ovarian disease is_a: MONDO:0021148 {source="MONDO:Redundant", source="NCIT:C4984"} ! female reproductive system neoplasm property_value: exactMatch http://identifiers.org/snomedct/123843001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN236629 property_value: exactMatch NCIT:C4984 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003894 name: acne def: "A chronic disorder of the pilosebaceous apparatus associated with an increase in sebum secretion. It is characterized by open comedones (blackheads), closed comedones (whiteheads), and pustular nodules. The cause is unknown, but heredity and age are predisposing factors." [] def: "An inflammatory process of the sebaceous glands which is characterized by comedones, nodules, papules and/or pustules on the skin." [NCIT:P378] synonym: "acne" EXACT [MONDO:ambiguous] synonym: "acne" EXACT [] {comment="preferred label from MONDO"} synonym: "acne (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "acne varioliformis" EXACT [DOID:6543, ICD9CM:706.0] synonym: "Acne Vulgaris" EXACT [] synonym: "acne vulgaris" EXACT [DOID:6543] synonym: "acne, adult" NARROW [OMIM:604324] synonym: "frontalis acne" EXACT [DOID:6543] xref: DOID:6543 {source="EFO:0003894", source="MONDO:equivalentTo"} xref: HP:0001061 {source="MONDO:otherHierarchy"} xref: ICD10:L70 xref: ICD9:706.0 {source="DOID:6543"} xref: MedDRA:10000496 xref: MeSH:D000152 xref: MONDO:0011438 xref: MTH:217 {source="DOID:6543"} xref: NCIT:C27195 {source="DOID:6543", source="EFO:0003894", source="MONDO:equivalentTo"} xref: NCIt:C27195 xref: SNOMEDCT:11381005 is_a: EFO:1000636 ! inflammatory skin disease is_a: EFO:1000763 {source="DOID:6543"} ! sebaceous gland disease is_a: MONDO:0002406 {source="EFO:0003894", source="NCIT:C27195"} ! dermatitis is_a: MONDO:0100118 ! hereditary skin disorder relationship: EFO:0000784 UBERON:0000014 ! has_disease_location zone of skin property_value: exactMatch DOID:6543 property_value: exactMatch NCIT:C27195 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: IAO:0000589 "acne (disease)" xsd:string [Term] id: EFO:0003895 name: epistaxis def: "Bleeding from the nose." [] synonym: "Bleeding, Nasal" EXACT [] synonym: "Bleedings, Nasal" EXACT [] synonym: "Nasal Bleeding" EXACT [] synonym: "Nasal Bleedings" EXACT [] synonym: "Nose Bleed" EXACT [] synonym: "Nose Bleeds" EXACT [] synonym: "Nosebleed" EXACT [] xref: ICD9:784.7 xref: MedDRA:10015090 xref: MeSH:D004844 xref: NCIt:C26766 xref: SNOMEDCT:12441001 is_a: EFO:0004264 ! vascular disease is_a: MP:0001914 ! hemorrhage relationship: EFO:0000784 UBERON:0000004 ! has_disease_location nose property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003896 name: left ventricular hypertrophy def: "Enlargement of the LEFT VENTRICLE of the heart. This increase in ventricular mass is attributed to sustained abnormal pressure or volume loads and is a contributor to cardiovascular morbidity and mortality." [] synonym: "Hypertrophies, Left Ventricular" EXACT [] synonym: "Hypertrophy, Left Ventricular" EXACT [] synonym: "Left Ventricular Hypertrophies" EXACT [] synonym: "Ventricular Hypertrophies, Left" EXACT [] synonym: "Ventricular Hypertrophy, Left" EXACT [] xref: MedDRA:10049773 xref: MeSH:D017379 xref: NCIt:C50631 xref: SNOMEDCT:55827005 is_a: EFO:0002503 ! cardiac hypertrophy relationship: characteristic_of UBERON:0002082 ! cardiac ventricle property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003897 name: stomach neoplasm def: "A benign or malignant neoplasm involving the stomach." [NCIT:C3387] def: "Tumors or cancer of the STOMACH." [] synonym: "Cancer of Stomach" EXACT [] synonym: "Cancer of the Stomach" EXACT [] synonym: "Cancer, Gastric" EXACT [] synonym: "Cancer, Stomach" EXACT [] synonym: "Cancers, Gastric" EXACT [] synonym: "Cancers, Stomach" EXACT [] synonym: "Gastric Cancer" EXACT [] synonym: "Gastric Cancers" EXACT [] synonym: "GASTRIC NEOPL" EXACT [] synonym: "Gastric Neoplasm" EXACT [] synonym: "gastric neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "gastric neoplasm" EXACT [NCIT:C3387] synonym: "Gastric Neoplasms" EXACT [] synonym: "gastric tumor" EXACT [NCIT:C3387] synonym: "gastric tumour" EXACT OMO:0003005 [] synonym: "NEOPL GASTRIC" EXACT [] synonym: "NEOPL STOMACH" EXACT [] synonym: "neoplasm of stomach" EXACT [MONDO:patterns/neoplasm, NCIT:C3387] synonym: "neoplasm of the stomach" EXACT [NCIT:C3387] synonym: "Neoplasm, Gastric" EXACT [] synonym: "Neoplasm, Stomach" EXACT [] synonym: "Neoplasms, Gastric" EXACT [] synonym: "Neoplasms, Stomach" EXACT [] synonym: "Stomach Cancer" EXACT [] synonym: "Stomach Cancers" EXACT [] synonym: "STOMACH NEOPL" EXACT [] synonym: "stomach neoplasm" EXACT [NCIT:C3387] synonym: "stomach neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "Stomach Neoplasms" EXACT [] synonym: "stomach tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3387] synonym: "stomach tumour" EXACT OMO:0003005 [] synonym: "tumor of stomach" EXACT [MONDO:patterns/neoplasm, NCIT:C3387] synonym: "tumor of the stomach" EXACT [NCIT:C3387] synonym: "tumour of stomach" EXACT OMO:0003005 [] synonym: "tumour of the stomach" EXACT OMO:0003005 [] xref: DOID:10534 xref: ICD10:C16 xref: MESH:D013274 {source="MONDO:equivalentTo"} xref: MeSH:D013274 xref: MONDO:0021085 xref: NCIT:C3387 {source="MONDO:equivalentTo"} xref: NCIt:C3387 xref: SCTID:126824007 {source="MONDO:equivalentTo"} xref: UMLS:C0038356 {source="MONDO:equivalentTo", source="NCIT:C3387"} is_a: EFO:0008549 {source="MESH:D013274", source="MONDO:Redundant", source="NCIT:C3387"} ! digestive system neoplasm is_a: EFO:0009608 {source="MESH:D013274", source="MONDO:Redundant", source="NCIT:C3387"} ! stomach disease property_value: exactMatch http://identifiers.org/mesh/D013274 property_value: exactMatch http://identifiers.org/snomedct/126824007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038356 property_value: exactMatch NCIT:C3387 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003898 name: ankylosing spondylitis def: "A chronic inflammatory condition affecting the axial joints, such as the SACROILIAC JOINT and other intervertebral or costovertebral joints. It occurs predominantly in young males and is characterized by pain and stiffness of joints (ANKYLOSIS) with inflammation at tendon insertions." [] def: "An autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints of the spine and sacroiliac joints. It predominantly affects young males. Patients present with stiffness and pain in the spine." [NCIT:P378] synonym: "Ankylosing Spondylarthritides" EXACT [] synonym: "Ankylosing Spondylarthritis" EXACT [] synonym: "ankylosing spondylarthritis" EXACT [Orphanet:825] synonym: "ankylosing spondylitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Ankylosing Spondyloarthritides" EXACT [] synonym: "Ankylosing Spondyloarthritis" EXACT [] synonym: "BECHTEREW DIS" EXACT [] synonym: "Bechterew Disease" EXACT [] synonym: "Bechterew's Disease" EXACT [] synonym: "BECHTEREWS DIS" EXACT [] synonym: "Bechterews Disease" EXACT [] synonym: "Bekhterev syndrome" EXACT [DOID:7147, Orphanet:825] synonym: "Bekhterev's disease" EXACT [DOID:7147] synonym: "MARIE STRUEMPELL DIS" EXACT [] synonym: "Marie Struempell Disease" EXACT [] synonym: "Marie-Struempell Disease" EXACT [] synonym: "Marie-Strumpell disease" EXACT [DOID:7147] synonym: "Rheumatoid Spondylitis" EXACT [] synonym: "Spondylarthritides, Ankylosing" EXACT [] synonym: "Spondylarthritis Ankylopoietica" EXACT [] synonym: "Spondylarthritis, Ankylosing" EXACT [] synonym: "Spondylitis, Ankylosing" EXACT [] synonym: "Spondylitis, Rheumatoid" EXACT [] synonym: "Spondyloarthritides, Ankylosing" EXACT [] synonym: "Spondyloarthritis, Ankylosing" EXACT [] xref: DOID:7147 {source="EFO:0003898", source="MONDO:equivalentTo"} xref: ICD10:M45 xref: ICD10CM:M45 {source="DOID:7147", source="MONDO:equivalentTo"} xref: ICD9:720.0 {source="DOID:7147", source="EFO:0003898", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10002556 xref: MESH:D013167 {source="DOID:7147", source="EFO:0003898", source="MONDO:equivalentTo"} xref: MeSH:D013167 xref: MONDO:0005306 xref: NCIT:C84564 {source="DOID:7147", source="EFO:0003898", source="MONDO:equivalentTo"} xref: NCIt:C84564 xref: Orphanet:825 {source="DOID:7147", source="MONDO:equivalentObsolete"} xref: SCTID:9631008 {source="DOID:7147", source="EFO:0003898", source="MONDO:equivalentTo"} xref: SNOMEDCT:9631008 is_a: EFO:0000685 ! rheumatoid arthritis is_a: EFO:0000706 {source="EFO:0003898", source="MONDO:Redundant"} ! spondyloarthropathy is_a: EFO:0009477 ! vertebral joint disease is_a: MONDO:0003937 {source="MESH:D013167/inferred", source="MONDO:cjm"} ! spondylitis property_value: exactMatch DOID:7147 property_value: exactMatch http://identifiers.org/mesh/D013167 property_value: exactMatch http://identifiers.org/snomedct/9631008 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/M45 property_value: exactMatch NCIT:C84564 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003899 name: contracture def: "Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint." [] synonym: "Contractures" EXACT [] xref: MedDRA:10061785 xref: MeSH:D003286 xref: SNOMEDCT:57048009 is_a: EFO:0002970 ! muscular disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003900 name: ciliopathy def: "A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function." [http://en.wikipedia.org/wiki/Ciliopathy] def: "Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms." [] subset: disease_grouping subset: ordo_group_of_disorders synonym: "Cilia Syndrome, Immotile" EXACT [] synonym: "Cilia Syndromes, Immotile" EXACT [] synonym: "Ciliary Dyskinesia" EXACT [] synonym: "Ciliary Dyskinesias" EXACT [] synonym: "CILIARY MOTILITY DIS" EXACT [] synonym: "Ciliary Motility Disorder" EXACT [] synonym: "Ciliary Motility Disorders" EXACT [] synonym: "ciliopathies" RELATED [GTR:AN0966173] synonym: "ciliopathy" EXACT [] {comment="preferred label from MONDO"} synonym: "Disorder, Ciliary Motility" EXACT [] synonym: "Disorders, Ciliary Motility" EXACT [] synonym: "Dyskinesia, Ciliary" EXACT [] synonym: "Dyskinesias, Ciliary" EXACT [] synonym: "Immotile Cilia Syndrome" EXACT [] synonym: "Immotile Cilia Syndromes" EXACT [] synonym: "Syndrome, Immotile Cilia" EXACT [] synonym: "Syndromes, Immotile Cilia" EXACT [] xref: DOID:0060340 {source="MONDO:equivalentTo", source="EFO:0003900"} xref: GTR:AN0966173 xref: MeSH:D002925 xref: MONDO:0005308 xref: OMIM:244400 xref: Orphanet:363250 {source="MONDO:equivalentTo"} xref: SNOMEDCT:86204009 xref: UMLS:CN580792 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="DOID:0060340", source="EFO:0003900"} ! genetic disorder relationship: EFO:0000784 GO:0005929 ! has_disease_location cilium property_value: exactMatch DOID:0060340 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN580792 property_value: exactMatch Orphanet:363250 property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003901 name: dysuria def: "Painful URINATION. It is often associated with infections of the lower URINARY TRACT." [] xref: ICD10:R30 xref: ICD9:788.1 xref: MedDRA:10013990 xref: MeSH:D053159 xref: NCIt:C2999 xref: SNOMEDCT:49650001 is_a: EFO:0003765 ! sign or symptom property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003902 name: spinal fracture def: "Broken bones in the vertebral column." [] def: "Traumatic or pathological injury to the spine in which the continuity of a vertebral bone is broken. Symptoms include back pain and difficulty bending and twisting." [NCIT:P378] synonym: "bone fracture of vertebral column" EXACT [MONDO:design_pattern] synonym: "Fracture, Spinal" EXACT [] synonym: "fracture, vertebral" EXACT [] synonym: "Fractures, Spinal" EXACT [] synonym: "spinal fracture" EXACT [] {comment="preferred label from MONDO"} synonym: "Spinal Fractures" EXACT [] synonym: "vertebral column bone fracture" EXACT [MONDO:patterns/location] synonym: "vertebral fracture" EXACT [] xref: ICD10:S12 xref: ICD10:S32 xref: ICD10:T08 xref: MedDRA:10041569 xref: MESH:D016103 {source="MONDO:equivalentTo", source="EFO:0003902"} xref: MeSH:D016103 xref: MONDO:0005309 xref: NCIt:C80516 xref: SCTID:50448004 {source="MONDO:equivalentTo"} is_a: EFO:0003931 {source="EFO:0003902", source="MESH:D016103", source="MONDO:Redundant"} ! bone fracture is_a: MONDO:0037747 ! spinal injury relationship: EFO:0000784 EFO:0001369 ! has_disease_location vertebral column structure property_value: exactMatch http://identifiers.org/mesh/D016103 property_value: exactMatch http://identifiers.org/snomedct/50448004 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003903 name: obsolete_Wiskott-Aldrich syndrome def: "A rare, X-linked immunodeficiency syndrome characterized by ECZEMA; LYMPHOPENIA; and, recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IMMUNOGLOBULIN M levels are low and IMMUNOGLOBULIN A and IMMUNOGLOBULIN E levels are elevated. Lymphoreticular malignancies are common." [] synonym: "Aldrich Syndrome" EXACT [] synonym: "Syndrome, Aldrich" EXACT [] synonym: "Syndrome, Wiskott-Aldrich" EXACT [] synonym: "Wiskott Aldrich Syndrome" EXACT [] xref: MeSH:D014923 xref: OMIM:277970 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_906' instead.\nNew Label : Wiskott-Aldrich syndrome" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_906 [Term] id: EFO:0003905 name: obsolete_venous thrombosis property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.57" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/HP_0004936 instead" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HP_0004936 [Term] id: EFO:0003906 name: heart valve prosthesis def: "A device that substitutes for a heart valve. It may be composed of biological material (BIOPROSTHESIS) and/or synthetic material." [] def: "Surgical insertion of synthetic material to repair injured or diseased heart valves." [] synonym: "Cardiac Valve Prostheses" EXACT [] synonym: "Cardiac Valve Prosthesis" EXACT [] synonym: "Heart Valve Prostheses" EXACT [] synonym: "Heart Valve Prosthesis Implantation" EXACT [] synonym: "Implantation, Heart Valve Prosthesis" EXACT [] synonym: "Prostheses, Cardiac Valve" EXACT [] synonym: "Prostheses, Heart Valve" EXACT [] synonym: "Prosthesis, Cardiac Valve" EXACT [] synonym: "Prosthesis, Heart Valve" EXACT [] synonym: "Valve Prostheses, Cardiac" EXACT [] synonym: "Valve Prostheses, Heart" EXACT [] synonym: "Valve Prosthesis, Cardiac" EXACT [] synonym: "Valve Prosthesis, Heart" EXACT [] xref: MeSH:D006350 xref: SNOMEDCT:25510005 is_a: EFO:0002571 ! medical procedure property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003907 name: deep vein thrombosis def: "The formation or presence of a blood clot (THROMBUS) within a deep vein in the lower extremity" [] synonym: "Deep Vein Thromboses" EXACT [] synonym: "Deep Venous Thromboses" EXACT [] synonym: "Deep Venous Thrombosis" EXACT [] synonym: "Deep-Vein Thromboses" EXACT [] synonym: "Deep-Vein Thrombosis" EXACT [] synonym: "Deep-Venous Thromboses" EXACT [] synonym: "Deep-Venous Thrombosis" EXACT [] synonym: "DVT" EXACT [] synonym: "Thromboses, Deep Vein" EXACT [] synonym: "Thromboses, Deep Venous" EXACT [] synonym: "Thromboses, Deep-Vein" EXACT [] synonym: "Thromboses, Deep-Venous" EXACT [] synonym: "Thrombosis, Deep Vein" EXACT [] synonym: "Thrombosis, Deep Venous" EXACT [] synonym: "Thrombosis, Deep-Vein" EXACT [] synonym: "Thrombosis, Deep-Venous" EXACT [] synonym: "Vein Thromboses, Deep" EXACT [] synonym: "Vein Thrombosis, Deep" EXACT [] synonym: "Venous Thromboses, Deep" EXACT [] synonym: "Venous Thrombosis, Deep" EXACT [] xref: MedDRA:10051055 xref: NCIt:C49343 xref: SNOMEDCT:128053003 is_a: HP:0004936 ! Venous thrombosis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003908 name: obsolete_refractive error def: "Deviations from the average or standard indices of refraction of the eye through its dioptric or refractive apparatus." [] synonym: "Ametropia" EXACT [] synonym: "Ametropias" EXACT [] synonym: "Disorder, Refractive" EXACT [] synonym: "Disorders, Refractive" EXACT [] synonym: "Error, Refractive" EXACT [] synonym: "Errors, Refractive" EXACT [] synonym: "REFRACTIVE DIS" EXACT [] synonym: "Refractive Disorder" EXACT [] synonym: "Refractive Disorders" EXACT [] synonym: "REFRACTIVE ERR" EXACT [] synonym: "Refractive Errors" EXACT [] xref: DOID:9835 xref: MeSH:D012030 xref: NCIt:C87145 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.64" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced by 'Abnormality of refraction'" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HP_0000539 [Term] id: EFO:0003909 name: obsolete_heart conduction system property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0002350 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002350 [Term] id: EFO:0003910 name: obsolete_von Willebrand disease def: "Group of hemorrhagic disorders in which the VON WILLEBRAND FACTOR is either quantitatively or qualitatively abnormal. They are usually inherited as an autosomal dominant trait though rare kindreds are autosomal recessive. Symptoms vary depending on severity and disease type but may include prolonged bleeding time, deficiency of factor VIII, and impaired platelet adhesion." [] synonym: "Angiohemophilia" EXACT [] synonym: "Angiohemophilias" EXACT [] synonym: "Hemophilia, Vascular" EXACT [] synonym: "Vascular Hemophilia" EXACT [] synonym: "Vascular Hemophilias" EXACT [] synonym: "VON WILLEBRAND DIS" EXACT [] synonym: "von Willebrand Disease, Recessive Form" EXACT [] synonym: "von Willebrand Diseases" EXACT [] synonym: "von Willebrand's Disease" EXACT [] synonym: "von Willebrand's Diseases" EXACT [] synonym: "VON WILLEBRANDS DIS" EXACT [] synonym: "von Willebrands Disease" EXACT [] synonym: "von Willebrands Diseases" EXACT [] xref: MeSH:D014842 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_903' instead.\nNew Label : Von Willebrand disease" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_903 [Term] id: EFO:0003911 name: atrial flutter def: "A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate of 240-340 beats per minute. Multiple P waves typically appear in the inferior leads in a saw tooth-like pattern between the QRS complexes. (CDISC)" [NCIT:P378] def: "Rapid, irregular atrial contractions caused by a block of electrical impulse conduction in the right atrium and a reentrant wave front traveling up the inter-atrial septum and down the right atrial free wall or vice versa. Unlike ATRIAL FIBRILLATION which is caused by abnormal impulse generation, typical atrial flutter is caused by abnormal impulse conduction. As in atrial fibrillation, patients with atrial flutter cannot effectively pump blood into the lower chambers of the heart (HEART VENTRICLES)." [] synonym: "atrial flutter" EXACT [] {comment="preferred label from MONDO"} synonym: "atrial flutter" EXACT [MONDO:ambiguous] synonym: "atrial flutter (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Atrial Flutters" EXACT [] synonym: "Auricular Flutter" EXACT [] synonym: "Auricular Flutters" EXACT [] synonym: "Flutter, Atrial" EXACT [] synonym: "Flutter, Auricular" EXACT [] synonym: "Flutters, Atrial" EXACT [] synonym: "Flutters, Auricular" EXACT [] xref: HP:0004749 {source="MONDO:otherHierarchy"} xref: ICD9:427.32 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0003911"} xref: MedDRA:10003662 xref: MESH:D001282 {source="MONDO:equivalentTo", source="EFO:0003911"} xref: MeSH:D001282 xref: MONDO:0005310 xref: NCIT:C51224 {source="MONDO:equivalentTo", source="EFO:0003911"} xref: NCIt:C51224 xref: SCTID:5370000 {source="MONDO:equivalentTo", source="EFO:0003911"} xref: SNOMEDCT:5370000 is_a: EFO:0005308 {source="EFO:0003911"} ! atrial tachycardia relationship: EFO:0000784 UBERON:0002081 ! has_disease_location cardiac atrium property_value: exactMatch http://identifiers.org/mesh/D001282 property_value: exactMatch http://identifiers.org/snomedct/5370000 property_value: exactMatch NCIT:C51224 property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: IAO:0000589 "atrial flutter (disease)" xsd:string [Term] id: EFO:0003912 name: ankle brachial index def: "An alternative to the ankle-brachial index." [] def: "Comparison of the BLOOD PRESSURE between the BRACHIAL ARTERY and the POSTERIOR TIBIAL ARTERY. It is a predictor of PERIPHERAL ARTERIAL DISEASE." [] synonym: "ABPI" EXACT [] synonym: "Ankle Brachial Indices" EXACT [] synonym: "ankle brachial pressure index" EXACT [] synonym: "Ankle Brachial Pressure Index (ABPI)" EXACT [] synonym: "Ankle-Brachial Index" EXACT [] synonym: "Ankle-Brachial Indices" EXACT [] synonym: "Brachial Index, Ankle" EXACT [] synonym: "Brachial Index, Toe" EXACT [] synonym: "Brachial Indices, Ankle" EXACT [] synonym: "Brachial Indices, Toe" EXACT [] synonym: "Index, Ankle Brachial" EXACT [] synonym: "Index, Ankle-Brachial" EXACT [] synonym: "Index, Toe Brachial" EXACT [] synonym: "Index, Toe-Brachial" EXACT [] synonym: "Indices, Ankle Brachial" EXACT [] synonym: "Indices, Ankle-Brachial" EXACT [] synonym: "Indices, Toe Brachial" EXACT [] synonym: "Indices, Toe-Brachial" EXACT [] synonym: "Toe Brachial Index" EXACT [] synonym: "Toe Brachial Indices" EXACT [] synonym: "Toe-Brachial Index" EXACT [] synonym: "Toe-Brachial Indices" EXACT [] xref: MedDRA:10062762 xref: MeSH:D055109 xref: NCIt:C87304 xref: SNOMEDCT:401221002 xref: SNOMEDCT:446841001 is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 EFO:0004265 ! is_about peripheral arterial disease relationship: IAO:0000136 UBERON:0004535 ! is_about cardiovascular system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003913 name: angina pectoris def: "The symptom of paroxysmal pain consequent to MYOCARDIAL ISCHEMIA usually of distinctive character, location and radiation. It is thought to be provoked by a transient stressful situation during which the oxygen requirements of the MYOCARDIUM exceed that supplied by the CORONARY CIRCULATION." [] synonym: "angina" EXACT [] synonym: "Angor Pectoris" EXACT [] synonym: "stable angina" EXACT [] synonym: "Stenocardia" EXACT [] synonym: "Stenocardias" EXACT [] xref: ICD10:I20 xref: ICD9:413 xref: MedDRA:10002383 xref: MeSH:D000787 xref: MeSH:D060050 xref: NCIt:C66914 xref: SNOMEDCT:194828000 xref: SNOMEDCT:233819005 is_a: HP:0001626 ! Abnormality of the cardiovascular system relationship: characteristic_of UBERON:0001621 ! coronary artery property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003914 name: atherosclerosis def: "A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA." [] def: "Build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen." [NCIT:C35768] comment: Note that NCIT distinguishes between atherosclerotic cardiovascular disease and atherosclerosis - we merge these here synonym: "Atherogenesis" EXACT [] synonym: "Atheroscleroses" EXACT [] synonym: "atherosclerosis" EXACT [] {comment="preferred label from MONDO"} synonym: "atherosclerosis artery" RELATED [] synonym: "atherosclerosis of artery" EXACT [] synonym: "atherosclerotic cardiovascular disease" EXACT [NCIT:C35771] xref: DOID:1936 {source="MONDO:equivalentTo", source="EFO:0003914"} xref: ICD10:I70 xref: ICD10CM:I70 {source="MONDO:equivalentTo", source="DOID:1936"} xref: ICD9:440 {source="EFO:0003914", source="DOID:1936"} xref: ICD9:440.8 xref: MedDRA:10003601 xref: MESH:D050197 {source="MONDO:equivalentTo", source="EFO:0003914", source="DOID:1936"} xref: MeSH:D050197 xref: MONDO:0005311 xref: NCIT:C35768 {source="MONDO:equivalentTo", source="EFO:0003914", source="DOID:1936"} xref: NCIt:C35768 xref: NCIT:C35771 {source="MONDO:equivalentTo", source="DOID:1936"} xref: SCTID:441574008 {source="MONDO:equivalentTo"} xref: SNOMEDCT:38716007 is_a: EFO:0009086 ! arteriosclerosis is_a: MONDO:0002277 {source="DOID:1936", source="DOID:1936/inferred", source="EFO:0003914", source="MESH:D050197", source="NCIT:C35768", source="NCIT:C35771"} ! arteriosclerosis disorder relationship: disease_has_feature HP:0031678 ! Atherosclerotic lesion relationship: EFO:0000784 UBERON:0001637 ! has_disease_location artery property_value: exactMatch DOID:1936 property_value: exactMatch http://identifiers.org/mesh/D050197 property_value: exactMatch http://identifiers.org/snomedct/441574008 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/I70 property_value: exactMatch NCIT:C35768 property_value: exactMatch NCIT:C35771 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003915 name: obsolete_congenital abnormality def: "Malformations of organs or body parts during development in utero." [] synonym: "ABNORM CONGEN" EXACT [] synonym: "Abnormalities, Congenital" EXACT [] synonym: "Abnormality, Congenital" EXACT [] synonym: "birth defect" EXACT [] synonym: "Birth Defects" EXACT [] synonym: "CONGEN ABNORM" EXACT [] synonym: "CONGEN DEFECTS" EXACT [] synonym: "Congenital Abnormalities" EXACT [] synonym: "Congenital Defect" EXACT [] synonym: "Congenital Defects" EXACT [] synonym: "Defect, Birth" EXACT [] synonym: "Defect, Congenital" EXACT [] synonym: "DEFECTS CONGEN" EXACT [] synonym: "Defects, Birth" EXACT [] synonym: "Defects, Congenital" EXACT [] synonym: "Deformities" EXACT [] synonym: "Deformity" EXACT [] xref: MeSH:D000013 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32.2" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "The class was a mixed bag of disease which have now been moved to more appropriate parent classes. No direct substitute." xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0003916 name: obsolete_cerebral arteriovenous malformation def: "Congenital vascular anomalies in the brain characterized by direct communication between an artery and a vein without passing through the CAPILLARIES. The locations and size of the shunts determine the symptoms including HEADACHES; SEIZURES; STROKE; INTRACRANIAL HEMORRHAGES; mass effect; and vascular steal effect." [] synonym: "Arteriovenous Malformation, Cerebral" EXACT [] synonym: "Arteriovenous Malformation, Intracranial" EXACT [] synonym: "Arteriovenous Malformations, Cerebral" EXACT [] synonym: "Arteriovenous Malformations, Intracranial" EXACT [] synonym: "AVM (Arteriovenous Malformation) Intracranial" EXACT [] synonym: "Cerebral Arteriovenous Malformations" EXACT [] synonym: "CONGEN INTRACRANIAL ARTERIOVENOUS MALFORMATIONS" EXACT [] synonym: "Congenital Intracranial Arteriovenous Malformations" EXACT [] synonym: "Intracranial Arteriovenous Malformation" EXACT [] synonym: "Intracranial Arteriovenous Malformation, Ruptured" EXACT [] synonym: "Intracranial Arteriovenous Malformations" EXACT [] synonym: "INTRACRANIAL ARTERIOVENOUS MALFORMATIONS CONGEN" EXACT [] synonym: "Intracranial Arteriovenous Malformations, Congenital" EXACT [] synonym: "INTRACRANIAL AVM" EXACT [] synonym: "Malformation, Cerebral Arteriovenous" EXACT [] synonym: "Malformation, Intracranial Arteriovenous" EXACT [] synonym: "Malformations, Cerebral Arteriovenous" EXACT [] synonym: "Malformations, Intracranial Arteriovenous" EXACT [] synonym: "Ruptured Intracranial Arteriovenous Malformation" EXACT [] xref: MeSH:D002538 xref: OMIM:108010 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.33" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate of class http://www.orpha.net/ORDO/Orphanet_46724" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_46724 [Term] id: EFO:0003917 name: premature birth def: "CHILDBIRTH before 37 weeks of PREGNANCY (259 days from the first day of the mother's last menstrual period, or 245 days after FERTILIZATION)." [] synonym: "Birth, Premature" EXACT [] synonym: "Birth, Preterm" EXACT [] synonym: "Births, Premature" EXACT [] synonym: "Births, Preterm" EXACT [] synonym: "Premature Births" EXACT [] synonym: "Preterm Birth" EXACT [] synonym: "Preterm Births" EXACT [] xref: ICD10:O60 xref: MedDRA:10036594 xref: MeSH:D047928 xref: NCIt:C92861 is_a: EFO:0000651 ! phenotype property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003918 name: obstructive sleep apnea def: "A disorder characterized by recurrent apneas during sleep despite persistent respiratory efforts. It is due to upper airway obstruction. The respiratory pauses may induce HYPERCAPNIA or HYPOXIA. Cardiac arrhythmias and elevation of systemic and pulmonary arterial pressures may occur. Frequent partial arousals occur throughout sleep, resulting in relative SLEEP DEPRIVATION and daytime tiredness. Associated conditions include OBESITY; ACROMEGALY; MYXEDEMA; micrognathia; MYOTONIC DYSTROPHY; adenotonsilar dystrophy; and NEUROMUSCULAR DISEASES. (From Adams et al., Principles of Neurology, 6th ed, p395)" [] def: "A disorder characterized by recurrent episodic disruptions of breathing during sleep. It is caused by the intermittent relaxation of pharyngeal muscles leading to the narrowing or complete blockage of the upper airway. This results in compensatory arousal from sleep to breathe again. An anatomically narrow airway from body habitus or enlarged pharyngeal structures may also predispose to obstruction. Clinical presentation usually includes snoring, daytime sleepiness, difficulty concentrating and fatigue. Clinical course may progress to chronic hypoxemia with cardiovascular and cerebrovascular sequelae." [] def: "Cessation of air flow during sleep due to upper airway obstruction." [NCIT:P378] synonym: "Apnea, Obstructive Sleep" EXACT [] synonym: "apnea, obstructive sleep" RELATED [MESH:D020181, OMIM:107650] synonym: "Apneas, Obstructive Sleep" EXACT [] synonym: "Apneas, obstructive sleep" RELATED [MESH:D020181] synonym: "obstructive sleep apnea" EXACT [MESH:D020181, MONDO:ambiguous] synonym: "Obstructive Sleep Apnea Syndrome" EXACT [] synonym: "obstructive sleep apnea syndrome" EXACT [DOID:0050848, MESH:D020181, OMIM:107650] synonym: "obstructive sleep apnea syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Obstructive Sleep Apneas" EXACT [] synonym: "obstructive sleep Apneas" RELATED [MESH:D020181] synonym: "Osa" RELATED [OMIM:107650] synonym: "OSAHS" RELATED ABBREVIATION [MESH:D020181] synonym: "sleep apnea hypopnea syndrome" RELATED [MESH:D020181] synonym: "Sleep Apnea Syndrome, Obstructive" EXACT [] synonym: "sleep apnea syndrome, obstructive" RELATED [MESH:D020181] synonym: "Sleep Apnea, Obstructive" EXACT [] synonym: "sleep apnea/hypopnea syndrome" RELATED [OMIM:107650] synonym: "Sleep Apneas, Obstructive" EXACT [] synonym: "sleep Apneas, obstructive" RELATED [MESH:D020181] synonym: "Syndrome, Obstructive Sleep Apnea" EXACT [] synonym: "syndrome, obstructive sleep apnea" RELATED [MESH:D020181] synonym: "Syndrome, Sleep Apnea, Obstructive" EXACT [] synonym: "syndrome, sleep apnea, obstructive" RELATED [MESH:D020181] synonym: "Syndrome, Upper Airway Resistance, Sleep Apnea" EXACT [] synonym: "syndrome, upper airway resistance, sleep apnea" RELATED [MESH:D020181] synonym: "Upper Airway Resistance Sleep Apnea Syndrome" EXACT [] synonym: "upper airway resistance sleep apnea syndrome" RELATED [MESH:D020181] xref: DOID:0050848 {source="EFO:0003918", source="MONDO:equivalentTo"} xref: HP:0002870 {source="MONDO:otherHierarchy"} xref: ICD10CM:G47.33 {source="MONDO:equivalentTo"} xref: ICD9:327.23 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:780.57 {source="DOID:0050848"} xref: MESH:D020181 {source="EFO:0003918", source="MONDO:equivalentTo"} xref: MeSH:D020181 xref: MONDO:0007147 xref: NCIm:CL455363 xref: NCIt:C116337 xref: NCIT:C27168 {source="MONDO:equivalentTo"} xref: NCIt:C27168 xref: OMIM:107650 {source="EFO:0003918", source="MONDO:equivalentTo", source="DOID:0050848"} xref: SCTID:78275009 {source="EFO:0003918", source="MONDO:equivalentTo"} xref: SNOMEDCT:78275009 xref: UMLS:C0520679 {source="OMIM:107650", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0003877 {source="DOID:0050848", source="EFO:0003918", source="ICD10CM:G47.33", source="MESH:D020181"} ! sleep apnea is_a: MONDO:0002254 {source="NCIT:C27168"} ! syndromic disease property_value: exactMatch DOID:0050848 property_value: exactMatch http://identifiers.org/mesh/D020181 property_value: exactMatch http://identifiers.org/snomedct/78275009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0520679 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G47.33 property_value: exactMatch https://omim.org/entry/107650 property_value: exactMatch NCIT:C27168 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003919 name: risk factor def: "An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent." [] def: "Any aspect of an individual's life, behavior, an environmental exposure, or an inborn or inherited characteristic that increases the likelihood of a disease, condition or injury." [] synonym: "Factor, Risk" EXACT [] synonym: "Factors, Risk" EXACT [] synonym: "Risk Factors" EXACT [] xref: MeSH:D012307 xref: NCIt:C17103 xref: SNOMEDCT:80943009 is_a: BFO:0000016 ! disposition property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003920 name: obsolete_cleft palate def: "Congenital fissure of the soft and/or hard palate, due to faulty fusion." [] synonym: "Cleft Palates" EXACT [] synonym: "Palate, Cleft" EXACT [] synonym: "Palates, Cleft" EXACT [] xref: DOID:674 xref: ICD9:749.0 xref: MeSH:D002972 xref: NCIt:C87069 xref: OMIM:119540 xref: OMIM:119570 xref: SNOMEDCT:87979003 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.60" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced by HP class 'cleft palate'" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HP_0000175 [Term] id: EFO:0003921 name: pouchitis def: "Acute INFLAMMATION in the INTESTINAL MUCOSA of the continent ileal reservoir (or pouch) in patients who have undergone ILEOSTOMY and restorative proctocolectomy (PROCTOCOLECTOMY, RESTORATIVE)." [] def: "Acute inflammation in the intestinal mucosa of the continent ileal reservoir (or pouch) in patients who have undergone ileostomy and restorative proctocolectomy (proctocolectomy, restorative)." [MESH:D019449] synonym: "Ileitis, Pouch" EXACT [] synonym: "Pouch Ileitis" EXACT [] synonym: "pouchitis" EXACT [] {comment="preferred label from MONDO"} xref: ICD10CM:K91.850 {source="MONDO:equivalentTo"} xref: ICD9:569.71 {source="EFO:0003921"} xref: MedDRA:10036463 xref: MESH:D019449 {source="MONDO:equivalentTo", source="EFO:0003921"} xref: MeSH:D019449 xref: MONDO:0005312 xref: Orphanet:217067 {source="MONDO:equivalentTo"} xref: UMLS:C0376620 {source="MONDO:equivalentTo"} is_a: MONDO:0024635 ! small intestine disorder relationship: EFO:0000784 UBERON:0002116 ! has_disease_location ileum property_value: exactMatch http://identifiers.org/mesh/D019449 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0376620 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K91.850 property_value: exactMatch Orphanet:217067 property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003922 name: menopause def: "The last menstrual period. Permanent cessation of menses (MENSTRUATION) is usually defined after 6 to 12 months of AMENORRHEA in a woman over 45 years of age. In the United States, menopause generally occurs in women between 48 and 55 years of age." [] synonym: "Change of Life, Female" EXACT [] xref: ICD10:N95 xref: MedDRA:10027308 xref: MeSH:D008593 xref: NCIt:C3231 xref: SNOMEDCT:161712005 is_a: EFO:0003765 ! sign or symptom property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003923 name: bone density def: "The amount of mineral per square centimeter of BONE. This is the definition used in clinical practice. Actual bone density would be expressed in grams per milliliter. It is most frequently measured by X-RAY ABSORPTIOMETRY or TOMOGRAPHY, X RAY COMPUTED. Bone density is an important predictor for OSTEOPOROSIS." [] synonym: "aBMD" EXACT [] synonym: "areal bone mineral density" EXACT [] synonym: "BMD" EXACT [] synonym: "Bone Densities" EXACT [] synonym: "Bone Mineral Densities" EXACT [] synonym: "Bone Mineral Density" EXACT [] synonym: "Density, Bone" EXACT [] synonym: "Density, Bone Mineral" EXACT [] xref: ICD10:M85 xref: MeSH:D015519 xref: NCIt:C96950 is_a: EFO:0004516 ! bone fracture related measurement relationship: IAO:0000136 EFO:0003931 ! is_about bone fracture relationship: IAO:0000136 EFO:0004260 ! is_about bone disease relationship: IAO:0000136 UBERON:0001474 ! is_about bone element property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003924 name: hair color def: "Color of hair or fur." [] synonym: "Color, Hair" EXACT [] synonym: "Colors, Hair" EXACT [] synonym: "Hair Colors" EXACT [] xref: MeSH:D006200 is_a: EFO:0005038 ! hair morphology property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003925 name: cognition def: "Intellectual or mental process whereby an organism becomes aware of or obtains knowledge." [] synonym: "cognitive function" EXACT [] xref: MeSH:D003071 xref: NCIt:C16446 is_a: EFO:0004323 ! mental process property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003926 name: neuropsychological test def: "Tests designed to assess neurological function associated with certain behaviors. They are used in diagnosing brain dysfunction or damage and central nervous system disorders or injury." [] synonym: "Aphasia Test" EXACT [] synonym: "Aphasia Tests" EXACT [] synonym: "cognitive performance" EXACT [] synonym: "cognitive performance test" EXACT [] synonym: "cognitive test performance" EXACT [] synonym: "Memory for Designs Test" EXACT [] synonym: "NEUROPSYCHOL TEST" EXACT [] synonym: "NEUROPSYCHOL TESTS" EXACT [] synonym: "Neuropsychologic Test" EXACT [] synonym: "Neuropsychologic Tests" EXACT [] synonym: "Neuropsychological Tests" EXACT [] synonym: "TEST NEUROPSYCHOL" EXACT [] synonym: "Test, Aphasia" EXACT [] synonym: "Test, Neuropsychologic" EXACT [] synonym: "Test, Neuropsychological" EXACT [] synonym: "TESTS NEUROPSYCHOL" EXACT [] synonym: "Tests, Aphasia" EXACT [] synonym: "Tests, Neuropsychologic" EXACT [] synonym: "Tests, Neuropsychological" EXACT [] xref: MedDRA:10065432 xref: MeSH:D009483 is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder relationship: IAO:0000136 UBERON:0001017 ! is_about central nervous system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003927 name: obsolete_myopia def: "A refractive error in which rays of light entering the EYE parallel to the optic axis are brought to a focus in front of the RETINA when accommodation (ACCOMMODATION, OCULAR) is relaxed. This results from an overly curved CORNEA or from the eyeball being too long from front to back. It is also called nearsightedness." [] synonym: "Myopias" EXACT [] synonym: "Nearsightedness" EXACT [] synonym: "Nearsightednesses" EXACT [] xref: DOID:11830 xref: ICD9:367.1 xref: MeSH:D009216 xref: NCIt:C102533 xref: SNOMEDCT:57190000 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.64" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced by Myopia" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HP_0000545 [Term] id: EFO:0003928 name: necrotizing enterocolitis def: "ENTEROCOLITIS with extensive ulceration (ULCER) and NECROSIS. It is observed primarily in LOW BIRTH WEIGHT INFANT." [] def: "Necrotizing enterocolitis (NEC) is a devastating disease that affects mostly the intestine of premature infants. The wall of the intestine is invaded by bacteria, which cause local infection and inflammation that can ultimately destroy the wall of the bowel (intestine). Such bowel wall destruction can lead to perforation of the intestine and spillage of stool into the infant's abdomen, which can result in an overwhelming infection and death." [https://www.chla.org/necrotizing-enterocolitis] synonym: "Enterocolitis, Necrotizing" EXACT [] synonym: "NEC" EXACT ABBREVIATION [NCIT:C84915] synonym: "necrotizing enterocolitis" EXACT [] {comment="preferred label from MONDO"} synonym: "necrotizing enterocolitis" EXACT [NCIT:C84915] synonym: "necrotizing enterocolitis in fetus or newborn" NARROW [NCIT:C84915] synonym: "necrotizing enterocolitis in foetus or newborn" NARROW OMO:0003005 [] xref: ICD9:777.5 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10055646 xref: MESH:D020345 {source="MONDO:equivalentTo", source="EFO:0003928"} xref: MeSH:D020345 xref: MONDO:0005313 xref: NCIT:C84915 {source="MONDO:equivalentTo", source="EFO:0003928"} xref: NCIt:C84915 xref: Orphanet:391673 {source="MONDO:equivalentTo"} xref: SCTID:2707005 {source="MONDO:equivalentTo"} xref: UMLS:C0520459 {source="MONDO:equivalentTo"} xref: UMLS:C4082937 {source="MONDO:equivalentTo", source="NCIT:C84915"} is_a: EFO:0009431 {source="EFO:0003928", source="MESH:D020345/inferred", source="MONDO:Redundant", source="NCIT:C84915/inferred"} ! intestinal disease is_a: EFO:1001481 {source="EFO:0003928", source="MESH:D020345", source="NCIT:C84915"} ! enterocolitis relationship: EFO:0000784 UBERON:0000160 ! has_disease_location intestine property_value: exactMatch http://identifiers.org/mesh/D020345 property_value: exactMatch http://identifiers.org/snomedct/2707005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0520459 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4082937 property_value: exactMatch NCIT:C84915 property_value: exactMatch Orphanet:391673 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003929 name: relapsing-remitting multiple sclerosis def: "The most common clinical variant of MULTIPLE SCLEROSIS, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see OPTIC NEURITIS), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914)" [] def: "The most common clinical variant of multiple sclerosis, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see optic neuritis), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914)" [MESH:D020529] synonym: "Acute Relapsing Multiple Sclerosis" EXACT [] synonym: "MS RELAPSING REMITTING" EXACT [] synonym: "Multiple Sclerosis, Acute Relapsing" EXACT [] synonym: "Multiple Sclerosis, Relapsing Remitting" EXACT [] synonym: "Multiple Sclerosis, Relapsing-Remitting" EXACT [] synonym: "Multiple Sclerosis, Remitting-Relapsing" EXACT [] synonym: "Relapsing Remitting Multiple Sclerosis" EXACT [] synonym: "Relapsing-remitting MS" EXACT [DOID:2378] synonym: "relapsing-remitting multiple sclerosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Remitting Relapsing Multiple Sclerosis" EXACT [] synonym: "Remitting-Relapsing Multiple Sclerosis" EXACT [] synonym: "RRMS" EXACT ABBREVIATION [DOID:2378] xref: DOID:2378 {source="EFO:0003929", source="MONDO:equivalentTo"} xref: MedDRA:10063399 xref: MESH:D020529 {source="EFO:0003929", source="DOID:2378", source="MONDO:equivalentTo"} xref: MeSH:D020529 xref: MONDO:0005314 xref: NCIT:C165675 {source="MONDO:equivalentTo"} xref: SCTID:426373005 {source="EFO:0003929", source="DOID:2378", source="MONDO:equivalentTo"} xref: SNOMEDCT:230372003 xref: SNOMEDCT:426373005 xref: UMLS:C0751967 {source="DOID:2378", source="MONDO:equivalentTo"} is_a: MONDO:0005301 {source="DOID:2378", source="EFO:0003929", source="MESH:D020529"} ! multiple sclerosis property_value: exactMatch DOID:2378 property_value: exactMatch http://identifiers.org/mesh/D020529 property_value: exactMatch http://identifiers.org/snomedct/426373005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751967 property_value: exactMatch NCIT:C165675 property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003930 name: menarche def: "The first MENSTRUAL CYCLE marked by the initiation of MENSTRUATION." [] xref: MedDRA:10027182 xref: MeSH:D008572 xref: NCIt:C3228 xref: SNOMEDCT:20016009 is_a: EFO:0003765 ! sign or symptom property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003931 name: bone fracture def: "Breaks in bones." [MESH:D050723] subset: other_hierarchy synonym: "bone fracture" EXACT [] {comment="preferred label from MONDO"} synonym: "Bone Fractures" EXACT [] synonym: "Bone, Broken" EXACT [] synonym: "Bones, Broken" EXACT [] synonym: "Broken Bone" EXACT [] synonym: "Broken Bones" EXACT [] synonym: "fracture" EXACT [NCIT:C3046] synonym: "fracture of bone" EXACT [NCIT:C3046] synonym: "fracture(s)" EXACT [NCIT:C3046] synonym: "Fracture, Bone" EXACT [] synonym: "Fractures, Bone" EXACT [] xref: ICD10:S42 xref: ICD10:S52 xref: ICD10:S92 xref: MESH:D050723 {source="EFO:0003931", source="MONDO:equivalentTo"} xref: MeSH:D050723 xref: MONDO:0005315 xref: NCIT:C3046 {source="MONDO:equivalentTo"} xref: SCTID:125605004 {source="MONDO:equivalentTo"} is_a: EFO:0000546 {source="MESH:D050723", source="MONDO:cjm", source="NCIT:C3046/inferred"} ! injury is_a: EFO:0004260 ! bone disease relationship: EFO:0000784 UBERON:0001474 ! has_disease_location bone element property_value: exactMatch http://identifiers.org/mesh/D050723 property_value: exactMatch http://identifiers.org/snomedct/125605004 property_value: exactMatch NCIT:C3046 property_value: excluded_subClassOf MONDO:0005381 {source="MONDO:Redundant"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003932 name: bacterial vaginosis def: "Infection caused by bacterial overgrowth in the vagina. Most affected women are asymptomatic. When symptoms occur, they include foul-smelling vaginal discharge, vaginal itching, and burning. Risk factors include sexual activity with multiple partners and the use of vaginal douches and intrauterine devices. Up to a third of cases resolve without treatment. Antibiotic treatment is recommended when symptoms are present and for women that are pregnant at the time of infection." [NCIT:P378] def: "Polymicrobial, nonspecific vaginitis associated with positive cultures of Gardnerella vaginalis and other anaerobic organisms and a decrease in lactobacilli. It remains unclear whether the initial pathogenic event is caused by the growth of anaerobes or a primary decrease in lactobacilli." [] synonym: "BACT VAGINITIDES" EXACT [] synonym: "BACT VAGINITIS" EXACT [] synonym: "BACT VAGINOSES" EXACT [] synonym: "BACT VAGINOSIS" EXACT [] synonym: "Bacterial Vaginitides" EXACT [] synonym: "Bacterial Vaginitis" EXACT [] synonym: "Bacterial Vaginoses" EXACT [] synonym: "bacterial vaginosis" EXACT [] {comment="preferred label from MONDO"} synonym: "BV" BROAD ABBREVIATION [NCIT:C116973] synonym: "Nonspecific Vaginitis" EXACT [] synonym: "VAGINITIDES BACT" EXACT [] synonym: "Vaginitides, Bacterial" EXACT [] synonym: "VAGINITIS BACT" EXACT [] synonym: "Vaginitis, Bacterial" EXACT [] synonym: "Vaginitis, Nonspecific" EXACT [] synonym: "VAGINOSES BACT" EXACT [] synonym: "Vaginoses, Bacterial" EXACT [] synonym: "VAGINOSIS BACT" EXACT [] synonym: "Vaginosis, Bacterial" EXACT [] xref: DOID:3385 {source="MONDO:equivalentTo", source="EFO:0003932"} xref: MedDRA:10004055 xref: MESH:D016585 {source="DOID:3385", source="MONDO:equivalentTo", source="EFO:0003932"} xref: MeSH:D016585 xref: MONDO:0005316 xref: NCIT:C116973 {source="DOID:3385", source="MONDO:equivalentTo", source="EFO:0003932"} xref: NCIt:C116973 xref: SCTID:419760006 {source="DOID:3385", source="MONDO:equivalentTo", source="EFO:0003932"} xref: SNOMEDCT:419760006 xref: UMLS:C0085166 {source="DOID:3385", source="MONDO:equivalentTo", source="NCIT:C116973"} is_a: EFO:1000873 ! commensal Bifidobacteriales infectious disease is_a: MONDO:0023557 ! infective vaginitis relationship: EFO:0000784 UBERON:0000996 ! has_disease_location vagina property_value: exactMatch DOID:3385 property_value: exactMatch http://identifiers.org/mesh/D016585 property_value: exactMatch http://identifiers.org/snomedct/419760006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085166 property_value: exactMatch NCIT:C116973 property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003933 name: obsolete_mitral valve def: "The valve between the left atrium and left ventricle of the heart." [] synonym: "Bicuspid Valve" EXACT [] synonym: "Bicuspid Valves" EXACT [] synonym: "Mitral Valves" EXACT [] synonym: "Valve, Bicuspid" EXACT [] synonym: "Valve, Mitral" EXACT [] synonym: "Valves, Bicuspid" EXACT [] synonym: "Valves, Mitral" EXACT [] xref: MeSH:D008943 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002135\nlabel: mitral valve" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002135 [Term] id: EFO:0003934 name: obsolete_fatty liver def: "Inflammation of the liver related to lipid accumulation in fatty liver." [] def: "Lipid infiltration of the hepatic parenchymal cells resulting in a yellow-colored liver. The abnormal lipid accumulation is usually in the form of TRIGLYCERIDES, either as a single large droplet or multiple small droplets. Fatty liver is caused by an imbalance in the metabolism of FATTY ACIDS." [] synonym: "Liver Steatoses" EXACT [] synonym: "Liver Steatosis" EXACT [] synonym: "Liver, Fatty" EXACT [] synonym: "Steatohepatitides" EXACT [] synonym: "Steatohepatitis" EXACT [] synonym: "Steatoses, Liver" EXACT [] synonym: "Steatosis of Liver" EXACT [] synonym: "Steatosis, Liver" EXACT [] synonym: "Visceral Steatosis" EXACT [] xref: MeSH:D005234 xref: OMIM:228100 xref: SNOMEDCT:197321007 xref: SNOMEDCT:442191002 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.82" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "obsoletised in favor of phenotype 'hepatic steatosis' http://purl.obolibrary.org/obo/HP_0001397" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HP_0001397 [Term] id: EFO:0003935 name: mental health def: "The state wherein the person is well adjusted." [] synonym: "Health, Mental" EXACT [] synonym: "Hygiene, Mental" EXACT [] synonym: "Mental Hygiene" EXACT [] xref: MeSH:D008603 xref: NCIt:C93187 is_a: BFO:0000016 ! disposition property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003936 name: obsolete_physiological process def: "The activities of living organisms that support life in single- or multi-cellular organisms from their origin through the progression of life." [] xref: GO:0008150 xref: MeSH:D055705 property_value: definition:citation "Adapted from MESH (excluded functions from this definition which is about processes only)" xsd:string property_value: definition:citation http://purl.obolibrary.org/obo/GO_0008150 xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.25" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replaced by an import from GO, biological process in GO is an exact synonym for physiological process" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/GO_0008150 [Term] id: EFO:0003938 name: aphthous ulcer def: "A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval. Two to eight crops of lesions occur per year, lasting for 7 to 14 days and then heal without scarring. (From Jablonski's Dictionary of Dentistry, 1992, p742)" [] def: "A type of stomatitis that is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring. It is a recurrent disease of the oral mucosa of unknown etiology." [NCIT:C62546] synonym: "Aphthae" EXACT [] synonym: "Aphthous Stomatitides" EXACT [] synonym: "Aphthous Stomatitis" EXACT [] synonym: "aphthous stomatitis" RELATED [NCIT:C62546] synonym: "aphthous ulcer" EXACT [NCIT:C62546] synonym: "Aphthous Ulcers" EXACT [] synonym: "aphtous stomatitis" EXACT [] synonym: "Canker Sore" EXACT [] synonym: "canker sore" EXACT [NCIT:C62546] synonym: "canker sore" EXACT [] {comment="preferred label from MONDO"} synonym: "Canker Sores" EXACT [] synonym: "Periadenitis Mucosa Necrotica Recurrens" EXACT [] synonym: "Sore, Canker" EXACT [] synonym: "Sores, Canker" EXACT [] synonym: "Stomatitides, Aphthous" EXACT [] synonym: "Stomatitis, Aphthous" EXACT [] synonym: "Ulcer, Aphthous" EXACT [] synonym: "Ulcers, Aphthous" EXACT [] xref: DOID:9663 xref: HP:0032154 {source="MONDO:otherHierarchy"} xref: MedDRA:10002959 xref: MESH:D013281 {source="MONDO:equivalentTo", source="EFO:0003938"} xref: MeSH:D013281 xref: MONDO:0005318 xref: NCIT:C62546 {source="MONDO:equivalentTo", source="EFO:0003938"} xref: NCIt:C62546 xref: SCTID:427617000 {source="MONDO:equivalentTo"} xref: SNOMEDCT:196535004 is_a: EFO:0009688 {source="MESH:D013281"} ! stomatitis relationship: EFO:0000784 UBERON:0000165 ! has_disease_location mouth property_value: exactMatch http://identifiers.org/mesh/D013281 property_value: exactMatch http://identifiers.org/snomedct/427617000 property_value: exactMatch NCIT:C62546 property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003939 name: energy intake def: "Total number of calories taken in daily whether ingested or by parenteral routes." [] synonym: "Caloric Intake" EXACT [] xref: MeSH:D002149 xref: NCIt:C28135 is_a: GO:0008150 ! biological_process property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003940 name: physical activity def: "The physical activity of a human or an animal as a behavioral phenomenon." [] synonym: "Activities, Locomotor" EXACT [] synonym: "Activities, Motor" EXACT [] synonym: "Activities, Physical" EXACT [] synonym: "Activity, Locomotor" EXACT [] synonym: "Activity, Motor" EXACT [] synonym: "Activity, Physical" EXACT [] synonym: "Locomotor Activities" EXACT [] synonym: "Locomotor Activity" EXACT [] synonym: "Motor Activities" EXACT [] synonym: "Motor Activity" EXACT [] synonym: "Physical Activities" EXACT [] xref: MeSH:D009043 xref: NCIt:C17708 xref: SNOMEDCT:68130003 is_a: GO:0008150 ! biological_process property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003941 name: sex hormone-binding globulin def: "A glycoprotein migrating as a beta-globulin. Its molecular weight, 52,000 or 95,000-115,000, indicates that it exists as a dimer. The protein binds testosterone, dihydrotestosterone, and estradiol in the plasma. Sex hormone-binding protein has the same amino acid sequence as ANDROGEN-BINDING PROTEIN. They differ by their sites of synthesis and post-translational oligosaccharide modifications." [] def: "http://en.wikipedia.org/wiki/Sex_hormone-binding_globulin" [] synonym: "Binding Globulin, Testosterone-Estradiol" EXACT [] synonym: "Globulin, Sex Hormone-Binding" EXACT [] synonym: "Globulin, Testosterone-Estradiol Binding" EXACT [] synonym: "Hormone-Binding Globulin, Sex" EXACT [] synonym: "Sex Hormone Binding Globulin" EXACT [] synonym: "Sex Steroid Binding Protein" EXACT [] synonym: "Sex Steroid-Binding Protein" EXACT [] synonym: "SHBG" EXACT [] synonym: "Steroid-Binding Protein, Sex" EXACT [] synonym: "Testosterone Estradiol Binding Globulin" EXACT [] synonym: "Testosterone-Estradiol Binding Globulin" EXACT [] xref: MeSH:D012738 xref: NCIt:C17128 is_a: CHEBI:17089 ! glycoprotein property_value: definition:citation http://en.wikipedia.org/wiki/Sex_hormone-binding_globulin xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003942 name: Xenograft def: "Transplantation between animals of different species." [] synonym: "Heterograft" EXACT [] synonym: "Heterografts" EXACT [] synonym: "HETEROL TRANSPL" EXACT [] synonym: "heterologous transplantation" EXACT [] synonym: "Heterologous Transplantations" EXACT [] synonym: "TRANSPL HETEROL" EXACT [] synonym: "Transplantation, Heterologous" EXACT [] synonym: "Transplantations, Heterologous" EXACT [] synonym: "Xenografts" EXACT [] synonym: "XENOTRANSPL" EXACT [] synonym: "Xenotransplantation" EXACT [] synonym: "Xenotransplantations" EXACT [] xref: MeSH:D014183 xref: MeSH:D064593 xref: NCIt:C12932 xref: SNOMEDCT:67650000 is_a: EFO:0002571 ! medical procedure property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003943 name: humerus fracture def: "A traumatic or pathologic injury to the humerus in which the continuity of the humerus is broken." [EFO:0003943] subset: other_hierarchy synonym: "Fracture, Humeral" EXACT [] synonym: "fracture, humeral" EXACT [MESH:D006810] synonym: "Fractures, Humeral" EXACT [] synonym: "fractures, humeral" EXACT [MESH:D006810] synonym: "Humeral Fracture" EXACT [] synonym: "humeral fracture" EXACT [MESH:D006810] synonym: "Humeral Fractures" EXACT [] synonym: "humerus fracture" EXACT [] {comment="preferred label from MONDO"} xref: MedDRA:10020462 xref: MESH:D006810 {source="MONDO:equivalentTo", source="EFO:0003943"} xref: MeSH:D006810 xref: MONDO:0005319 xref: NCIt:C26795 xref: SCTID:66308002 {source="MONDO:equivalentTo"} is_a: EFO:0003931 {source="EFO:0003943", source="MESH:D006810"} ! bone fracture is_a: EFO:0009514 ! upper extremity fracture relationship: EFO:0000784 UBERON:0000976 ! has_disease_location humerus property_value: exactMatch http://identifiers.org/mesh/D006810 property_value: exactMatch http://identifiers.org/snomedct/66308002 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003944 name: tibia fracture def: "Traumatic or pathological injury to the tibia in which the continuity of the bone is broken." [EFO:0003944] subset: other_hierarchy synonym: "bone fracture of tibia" EXACT [MONDO:design_pattern] synonym: "Fracture, Tibial" EXACT [] synonym: "Fractures, Tibial" EXACT [] synonym: "tibia bone fracture" EXACT [MONDO:patterns/location] synonym: "tibia fracture" EXACT [] {comment="preferred label from MONDO"} synonym: "Tibial Fracture" EXACT [] synonym: "Tibial Fractures" EXACT [] xref: MedDRA:10043827 xref: MESH:D013978 {source="MONDO:equivalentTo", source="EFO:0003944"} xref: MeSH:D013978 xref: MONDO:0005320 xref: NCIt:C99083 xref: SCTID:31978002 {source="MONDO:equivalentTo"} is_a: EFO:0003931 {source="EFO:0003944", source="MESH:D013978", source="MONDO:Redundant"} ! bone fracture is_a: EFO:0009512 ! lower extremity fracture relationship: EFO:0000784 UBERON:0000979 ! has_disease_location tibia property_value: exactMatch http://identifiers.org/mesh/D013978 property_value: exactMatch http://identifiers.org/snomedct/31978002 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003945 name: obsolete_menorrhagia def: "Excessive uterine bleeding during MENSTRUATION." [] synonym: "Hypermenorrhea" EXACT [] xref: MeSH:D008595 xref: NCIt:C26829 xref: SNOMEDCT:386692008 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.85" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "deprecated in favor of HP_0000132" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HP_0000132 [Term] id: EFO:0003946 name: obsolete_Fuchs' endothelial dystrophy def: "Disorder caused by loss of endothelium of the central cornea. It is characterized by hyaline endothelial outgrowths on Descemet's membrane, epithelial blisters, reduced vision, and pain." [] synonym: "Dystrophy, Fuch's Endothelial" EXACT [] synonym: "Dystrophy, Fuchs' Endothelial" EXACT [] synonym: "Endothelial Dystrophy, Fuch's" EXACT [] synonym: "Endothelial Dystrophy, Fuchs'" EXACT [] synonym: "Fuch Endothelial Dystrophy" EXACT [] synonym: "Fuch's Endothelial Dystrophy" EXACT [] synonym: "Fuchs Endothelial Dystrophy" EXACT [] synonym: "Fuchs' corneal dystrophy" EXACT [] synonym: "Fuchs's corneal dystrophy" EXACT [] xref: DOID:11555 xref: MeSH:D005642 xref: NCIt:C84721 xref: SNOMEDCT:193839007 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication.\n\nUse: http://www.orpha.net/ORDO/Orphanet_98974 Label: Fuchs endothelial corneal dystrophy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_98974 [Term] id: EFO:0003947 name: personality def: "Behavior-response patterns that characterize the individual." [] synonym: "Personalities" EXACT [] xref: MeSH:D010551 xref: NCIt:C38002 xref: SNOMEDCT:71565002 is_a: BFO:0000019 ! quality property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003948 name: gastroesophageal reflux disease def: "A chronic disorder characterized by reflux of the gastric and/or duodenal contents into the distal esophagus. It is usually caused by incompetence of the lower esophageal sphincter. Symptoms include heartburn and acid indigestion. It may cause injury to the esophageal mucosa." [NCIT:C26781] def: "Retrograde flow of gastric juice (GASTRIC ACID) and/or duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the distal ESOPHAGUS, commonly due to incompetence of the LOWER ESOPHAGEAL SPHINCTER." [] synonym: "acid reflux" EXACT [DOID:8534] synonym: "Esophageal Reflux" EXACT [] synonym: "Gastresophageal reflux" EXACT [DOID:8534] synonym: "Gastro Esophageal Reflux" EXACT [] synonym: "Gastro oesophageal Reflux" EXACT [] synonym: "Gastro-Esophageal Reflux" EXACT [] synonym: "gastro-esophageal reflux" EXACT [DOID:8534] synonym: "Gastro-oesophageal Reflux" EXACT [] synonym: "Gastroesophageal Reflux" EXACT [] synonym: "gastroesophageal reflux" EXACT [DOID:8534, MONDO:Lexical, OMIM:109350] synonym: "GASTROESOPHAGEAL REFLUX DIS" EXACT [] synonym: "gastroesophageal reflux disease" EXACT [DOID:8534, MTH:NOCODE, OMIM:109350] synonym: "gastroesophageal reflux disease" EXACT [] {comment="preferred label from MONDO"} synonym: "gastroesophageal reflux, paediatric" RELATED OMO:0003005 [] synonym: "gastroesophageal reflux, pediatric" RELATED [OMIM:109350] synonym: "ger" RELATED [MONDO:Lexical, OMIM:109350] synonym: "GERD" EXACT ABBREVIATION [DOID:8534, NCIT:C26781] synonym: "GERD - gastro-esophageal reflux disease" EXACT [DOID:8534] synonym: "reflux" EXACT [] synonym: "Reflux, Gastro-Esophageal" EXACT [] synonym: "Reflux, Gastro-oesophageal" EXACT [] synonym: "Reflux, Gastroesophageal" EXACT [] xref: DOID:8534 {source="MONDO:equivalentTo", source="EFO:0003948"} xref: HP:0002020 xref: ICD10:K21 xref: ICD9:530.81 {source="DOID:8534", source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0003948"} xref: MedDRA:10038262 xref: MedDRA:10066874 xref: MESH:D005764 {source="DOID:8534", source="MONDO:equivalentTo", source="EFO:0003948"} xref: MeSH:D005764 xref: MONDO:0007186 xref: NCIT:C26781 {source="DOID:8534", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:0003948"} xref: NCIt:C26781 xref: OMIM:109350 {source="DOID:8534", source="MONDO:equivalentTo", source="EFO:0003948"} xref: SCTID:235595009 {source="DOID:8534", source="MONDO:equivalentTo", source="EFO:0003948"} xref: SNOMEDCT:235595009 xref: UMLS:C0017168 {source="DOID:8534", source="NCIT:C26781", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:109350"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: EFO:0009544 {source="MESH:D005764/inferred", source="MONDO:Redundant", source="NCIT:C26781/inferred"} ! esophageal disease is_a: EFO:0009608 ! stomach disease relationship: EFO:0000784 UBERON:0000945 ! has_disease_location stomach relationship: EFO:0000784 UBERON:0001043 ! has_disease_location esophagus property_value: exactMatch DOID:8534 property_value: exactMatch http://identifiers.org/mesh/D005764 property_value: exactMatch http://identifiers.org/snomedct/235595009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017168 property_value: exactMatch https://omim.org/entry/109350 property_value: exactMatch NCIT:C26781 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003949 name: eye color def: "Color of the iris." [] synonym: "Color, Eye" EXACT [] synonym: "Colors, Eye" EXACT [] synonym: "Eye Colors" EXACT [] synonym: "iris color" EXACT [] xref: MeSH:D005127 is_a: EFO:0000651 ! phenotype property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003950 name: ulna fracture def: "Fractures of the larger bone of the forearm." [MESH:D014458] synonym: "bone fracture of ulna" EXACT [MONDO:design_pattern] synonym: "Fracture, Ulna" EXACT [] synonym: "Fractures, Ulna" EXACT [] synonym: "ulna bone fracture" EXACT [MONDO:patterns/location] synonym: "ulna fracture" EXACT [] {comment="preferred label from MONDO"} synonym: "Ulna Fractures" EXACT [] xref: MedDRA:10045375 xref: MESH:D014458 {source="EFO:0003950", source="MONDO:equivalentTo"} xref: MeSH:D014458 xref: MONDO:0005322 xref: SCTID:54556006 {source="MONDO:equivalentTo"} is_a: EFO:0003931 {source="EFO:0003950", source="MESH:D014458", source="MONDO:Redundant"} ! bone fracture is_a: EFO:0009514 ! upper extremity fracture relationship: EFO:0000784 UBERON:0001460 ! has_disease_location arm property_value: exactMatch http://identifiers.org/mesh/D014458 property_value: exactMatch http://identifiers.org/snomedct/54556006 property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003951 name: percutaneous transluminal coronary angioplasty def: "Dilation of an occluded coronary artery (or arteries) by means of a balloon catheter to restore myocardial blood supply." [] synonym: "Angioplasties, Coronary Balloon" EXACT [] synonym: "Angioplasty, Balloon, Coronary" EXACT [] synonym: "Angioplasty, Coronary Balloon" EXACT [] synonym: "Angioplasty, Transluminal, Percutaneous Coronary" EXACT [] synonym: "Balloon Angioplasties, Coronary" EXACT [] synonym: "Balloon Angioplasty, Coronary" EXACT [] synonym: "Balloon Dilation, Coronary Artery" EXACT [] synonym: "Coronary Angioplasty, Transluminal Balloon" EXACT [] synonym: "Coronary Balloon Angioplasties" EXACT [] synonym: "Coronary Balloon Angioplasty" EXACT [] synonym: "Transluminal Coronary Balloon Dilation" EXACT [] xref: MeSH:D015906 xref: NCIt:C38078 xref: SNOMEDCT:11101003 is_a: EFO:0002571 ! medical procedure property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003952 name: fever of unknown origin def: "Fever in which the etiology cannot be ascertained." [] synonym: "Unknown Origin Fever" EXACT [] synonym: "Unknown Origin Fevers" EXACT [] xref: ICD10:R50 xref: MedDRA:10016563 xref: MeSH:D005335 xref: NCIt:C34608 is_a: EFO:0003765 ! sign or symptom property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003953 name: circumcision def: "Excision of the prepuce of the penis (FORESKIN) or part of it." [] synonym: "Circumcision, Male" EXACT [] synonym: "Circumcisions, Male" EXACT [] synonym: "male circumcision" EXACT [] synonym: "Male Circumcisions" EXACT [] xref: ICD9:64.0 xref: MeSH:D002944 xref: NCIt:C87068 xref: SNOMEDCT:72310004 is_a: EFO:0002571 ! medical procedure property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003954 name: obsolete_Treacher-Collins syndrome def: "A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)" [] synonym: "Collins Syndrome, Treacher" EXACT [] synonym: "Dysostoses, Mandibulofacial" EXACT [] synonym: "Dysostosis, Mandibulofacial" EXACT [] synonym: "Mandibulofacial Dysostoses" EXACT [] synonym: "Mandibulofacial Dysostosis" EXACT [] synonym: "Syndrome, Treacher Collins" EXACT [] synonym: "Treacher Collins Syndrome" EXACT [] xref: MeSH:D008342 xref: OMIM:154500 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_861' instead.\nNew Label : Treacher-Collins syndrome" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_861 [Term] id: EFO:0003955 name: bacterial sexually transmitted disease def: "Bacterial diseases that are potentially transmitted or propagated by sexual conduct." [MESH:D015231, MONDO:cjm] def: "Bacterial diseases transmitted or propagated by sexual conduct." [] synonym: "BACT SEX TRANSM DIS" EXACT [] synonym: "BACT VENEREAL DIS" EXACT [] synonym: "bacterial sexually transmitted disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Bacterial Sexually Transmitted Diseases" EXACT [] synonym: "Bacterial Venereal Disease" EXACT [] synonym: "Bacterial Venereal Diseases" EXACT [] synonym: "Disease, Bacterial Venereal" EXACT [] synonym: "Diseases, Bacterial Venereal" EXACT [] synonym: "SEX TRANSM DIS BACT" EXACT [] synonym: "Sexually Transmitted Disease, Bacterial" EXACT [] synonym: "Sexually Transmitted Diseases, Bacterial" EXACT [] synonym: "VENEREAL DIS BACT" EXACT [] synonym: "Venereal Disease, Bacterial" EXACT [] synonym: "Venereal Diseases, Bacterial" EXACT [] xref: ICD10:A63 xref: MESH:D015231 {source="MONDO:equivalentTo", source="EFO:0003955"} xref: MeSH:D015231 xref: MONDO:0005323 xref: UMLS:C0036917 {source="MONDO:equivalentTo"} is_a: EFO:0000771 {source="EFO:0003955", source="MESH:D015231", source="MONDO:Entailed", source="MONDO:Redundant"} ! bacterial disease is_a: EFO:0009549 ! female reproductive system disease is_a: EFO:0009555 ! male reproductive system disease is_a: MONDO:0021681 {source="MESH:D015231", source="MONDO:Redundant"} ! sexually transmitted disease relationship: EFO:0000784 UBERON:0000079 ! has_disease_location male reproductive system relationship: EFO:0000784 UBERON:0000474 ! has_disease_location female reproductive system property_value: exactMatch http://identifiers.org/mesh/D015231 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036917 property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003956 name: seasonal allergic rhinitis def: "Allergic rhinitis caused by outdoor allergens." [NCIT:C92188] def: "Allergic rhinitis that occurs at the same time every year. It is characterized by acute CONJUNCTIVITIS with lacrimation and ITCHING, and regarded as an allergic condition triggered by specific ALLERGENS." [] synonym: "Allergic Rhinitides, Seasonal" EXACT [] synonym: "Allergic Rhinitis, Seasonal" EXACT [] synonym: "Allergies, Pollen" EXACT [] synonym: "Allergy, Pollen" EXACT [] synonym: "Fever, Hay" EXACT [] synonym: "Hay Fever" EXACT [] synonym: "hay fever" EXACT [NCIT:C92188] synonym: "Hayfever" EXACT [] synonym: "Pollen Allergies" EXACT [] synonym: "Pollen Allergy" EXACT [] synonym: "Pollinoses" EXACT [] synonym: "Pollinosis" EXACT [] synonym: "Rhinitides, Seasonal Allergic" EXACT [] synonym: "Rhinitis, Allergic, Seasonal" EXACT [] synonym: "Rhinitis, Seasonal Allergic" EXACT [] synonym: "Seasonal Allergic Rhinitides" EXACT [] synonym: "seasonal allergic rhinitis" EXACT [NCIT:C92188] synonym: "seasonal allergic rhinitis" EXACT [] {comment="preferred label from MONDO"} xref: MedDRA:10019170 xref: MedDRA:10039776 xref: MESH:D006255 {source="MONDO:equivalentTo", source="EFO:0003956"} xref: MeSH:D006255 xref: MONDO:0005324 xref: NCIT:C92188 {source="MONDO:equivalentTo", source="EFO:0003956"} xref: NCIt:C92188 xref: SCTID:367498001 {source="MONDO:equivalentTo", source="EFO:0003956"} xref: SNOMEDCT:367498001 is_a: EFO:0005854 {source="EFO:0003956", source="NCIT:C92188"} ! allergic rhinitis property_value: exactMatch http://identifiers.org/mesh/D006255 property_value: exactMatch http://identifiers.org/snomedct/367498001 property_value: exactMatch NCIT:C92188 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003957 name: radius fracture def: "Traumatic or pathological injury to the radius bone in which the continuity of the bone is broken." [EFO:0003957] synonym: "Fracture, Radius" EXACT [] synonym: "Fractures, Radius" EXACT [] synonym: "radius fracture" EXACT [] {comment="preferred label from MONDO"} synonym: "Radius Fractures" EXACT [] xref: MedDRA:10037802 xref: MESH:D011885 {source="MONDO:equivalentTo", source="EFO:0003957"} xref: MeSH:D011885 xref: MONDO:0005325 xref: NCIt:C99039 xref: SCTID:12676007 {source="MONDO:equivalentTo"} is_a: EFO:0003931 {source="EFO:0003957", source="MESH:D011885"} ! bone fracture is_a: EFO:0009514 ! upper extremity fracture relationship: EFO:0000784 UBERON:0001460 ! has_disease_location arm property_value: exactMatch http://identifiers.org/mesh/D011885 property_value: exactMatch http://identifiers.org/snomedct/12676007 property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003958 name: sunburn def: "An inflammatory reaction from ultraviolet radiation characterized by transient redness, tenderness and occasional blistering." [NCIT:P378] def: "An injury to the skin causing erythema, tenderness, and sometimes blistering and resulting from excessive exposure to the sun. The reaction is produced by the ultraviolet radiation in sunlight." [] synonym: "sunburn" EXACT [] {comment="preferred label from MONDO"} synonym: "Sunburns" EXACT [] xref: ICD10:L55 xref: ICD10CM:L55 {source="MONDO:equivalentTo"} xref: ICD9:692.71 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0003958"} xref: MedDRA:10042496 xref: MESH:D013471 {source="MONDO:equivalentTo", source="EFO:0003958"} xref: MeSH:D013471 xref: MONDO:0005326 xref: NCIt:C3395 xref: SCTID:403194002 {source="MONDO:equivalentTo"} is_a: EFO:0000701 {source="EFO:0003958", source="MESH:D013471/inferred"} ! skin disease is_a: EFO:0009516 ! burn relationship: EFO:0000784 UBERON:0000014 ! has_disease_location zone of skin property_value: exactMatch http://identifiers.org/mesh/D013471 property_value: exactMatch http://identifiers.org/snomedct/403194002 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L55 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003959 name: cleft lip def: "Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region." [] synonym: "Cleft Lips" EXACT [] synonym: "Harelip" EXACT [] synonym: "Harelips" EXACT [] synonym: "Lip, Cleft" EXACT [] synonym: "Lips, Cleft" EXACT [] xref: DOID:9296 xref: ICD10:Q36 xref: ICD9:749.1 xref: MedDRA:10009259 xref: MedDRA:10009264 xref: MedDRA:10009265 xref: MedDRA:10009266 xref: MedDRA:10009267 xref: MedDRA:10009268 xref: MedDRA:10019161 xref: MeSH:D002971 xref: NCIt:C87175 xref: SNOMEDCT:80281008 is_a: HP:0000202 ! Orofacial cleft property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003960 name: computed tomography def: "A computed tomography scan (CT scan) is the output of an imaging technology which produces a 3D iimage of the subject." [] synonym: "computed tomography scan" EXACT [] synonym: "CT scan" EXACT [] xref: NCIt:C17204 is_a: EFO:0001444 ! measurement property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003961 name: hormone replacement therapy def: "Therapeutic use of hormones to alleviate the effects of hormone deficiency." [] synonym: "HORMONE REPLACE THER" EXACT [] synonym: "Hormone Replacement Therapies" EXACT [] synonym: "Hormone Replacement Therapy" EXACT [] synonym: "REPLACE THER HORMONE" EXACT [] synonym: "Replacement Therapies, Hormone" EXACT [] synonym: "Replacement Therapy, Hormone" EXACT [] synonym: "THER HORMONE REPLACE" EXACT [] synonym: "Therapies, Hormone Replacement" EXACT [] synonym: "Therapy, Hormone Replacement" EXACT [] xref: MeSH:D020249 xref: NCIt:C15599 xref: SNOMEDCT:266717002 is_a: EFO:0000727 ! treatment property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003962 name: pulsed doppler echocardiography def: "Echocardiography applying the Doppler effect, with velocity detection combined with range discrimination. Short bursts of ultrasound are transmitted at regular intervals and the echoes are demodulated as they return." [] synonym: "DOPPLER ECHOCARDIOGR PULSED" EXACT [] synonym: "Doppler Echocardiography, Pulsed" EXACT [] synonym: "DOPPLER PULSED ECHOCARDIOGR" EXACT [] synonym: "Doppler Pulsed Echocardiography" EXACT [] synonym: "ECHOCARDIOGR DOPPLER PULSED" EXACT [] synonym: "ECHOCARDIOGR PULSED DOPPLER" EXACT [] synonym: "Echocardiography, Doppler Pulsed" EXACT [] synonym: "Echocardiography, Doppler, Pulsed" EXACT [] synonym: "Echocardiography, Pulsed Doppler" EXACT [] synonym: "PULSED DOPPLER ECHOCARDIOGR" EXACT [] synonym: "PULSED ECHOCARDIOGR DOPPLER" EXACT [] synonym: "Pulsed Echocardiography, Doppler" EXACT [] xref: MeSH:D018619 is_a: EFO:0004311 ! heart function measurement property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003963 name: freckles def: "Disorders of increased melanin pigmentation that develop without preceding inflammatory disease." [] synonym: "Chloasma" EXACT [] synonym: "Chloasmas" EXACT [] synonym: "Freckle" EXACT [] synonym: "freckling" EXACT [] synonym: "Melanism" EXACT [] synonym: "Melanoses" EXACT [] synonym: "Melanosis" EXACT [] synonym: "Melasma" EXACT [] synonym: "Melasmas" EXACT [] xref: MedDRA:10017338 xref: MeSH:D008548 xref: NCIt:C112824 xref: SNOMEDCT:36209000 xref: SNOMEDCT:414662006 xref: SNOMEDCT:48010006 is_a: EFO:0003784 ! skin pigmentation property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003964 name: hip fracture def: "Fractures of the FEMUR HEAD; the FEMUR NECK; (FEMORAL NECK FRACTURES); the trochanters; or the inter- or subtrochanteric region. Excludes fractures of the acetabulum and fractures of the femoral shaft below the subtrochanteric region (FEMORAL FRACTURES)." [] def: "Traumatic or pathological injury to the hip in which the continuity of either the femoral head, femoral neck, intertrochanteric or subtrochanteric regions is broken. Symptoms include pain in the hip or groin, bruising and swelling in and around the hip area. The injured hip is turned outward and the leg appears shorter on that side." [NCIT:P378] synonym: "Fractures, Hip" EXACT [] synonym: "Fractures, Intertrochanteric" EXACT [] synonym: "Fractures, Subtrochanteric" EXACT [] synonym: "Fractures, Trochanteric" EXACT [] synonym: "hip fracture" EXACT [] {comment="preferred label from MONDO"} synonym: "Hip Fractures" EXACT [] synonym: "Intertrochanteric Fractures" EXACT [] synonym: "Subtrochanteric Fractures" EXACT [] synonym: "Trochanteric Fractures" EXACT [] xref: MedDRA:10020MedDRA\:100 xref: MESH:D006620 {source="EFO:0003964", source="MONDO:equivalentTo"} xref: MeSH:D006620 xref: MONDO:0005327 xref: NCIt:C26794 xref: SCTID:263225007 {source="MONDO:equivalentTo"} is_a: EFO:0003931 {source="EFO:0003964", source="MESH:D006620/inferred"} ! bone fracture relationship: EFO:0000784 UBERON:0000981 ! has_disease_location femur property_value: exactMatch http://identifiers.org/mesh/D006620 property_value: exactMatch http://identifiers.org/snomedct/263225007 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003965 name: very low birth weight infant def: "An infant whose weight at birth is less than 1500 grams (3.3 lbs), regardless of gestational age." [] synonym: "INFANT VLBW" EXACT [] synonym: "Infant, Very Low Birth Weight" EXACT [] synonym: "Infant, Very-Low-Birth-Weight" EXACT [] synonym: "Infants, Very-Low-Birth-Weight" EXACT [] synonym: "Very Low Birth Weight" EXACT [] synonym: "Very Low Birth Weight Infant" EXACT [] synonym: "Very-Low-Birth-Weight Infant" EXACT [] synonym: "Very-Low-Birth-Weight Infants" EXACT [] synonym: "VLBW INFANT" EXACT [] xref: MedDRA:10004958 xref: MeSH:D019102 xref: NCIt:C114935 xref: SNOMEDCT:276611006 is_a: EFO:0004344 ! birth weight property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0003966 name: eye disease def: "A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma." [NCIT:C26767] def: "A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma. [NCIt:C26767]" [] def: "An eye and adnexa disease that is located in the eye." [] synonym: "disease of eye" EXACT [MONDO:patterns/location_top] synonym: "disease of eyeball" RELATED [] synonym: "disease of eyeball of camera-type eye" EXACT [MONDO:design_pattern, MONDO:patterns/location_top] synonym: "disease or disorder of eyeball of camera-type eye" EXACT [] synonym: "disorder of eye" EXACT [MONDO:patterns/location_top] synonym: "disorder of eye proper" RELATED [] synonym: "disorder of eyeball" RELATED [] synonym: "disorder of eyeball of camera-type eye" EXACT [MONDO:design_pattern, MONDO:patterns/location_top] synonym: "disorder of globe" RELATED [] synonym: "eye disease" EXACT [MONDO:patterns/location, NCIT:C26767] synonym: "eye disorder" EXACT [NCIT:C26767] synonym: "eye disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "eyeball of camera-type eye disease" EXACT [MONDO:design_pattern] synonym: "eyeball of camera-type eye disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "globe disease" EXACT [MONDO:0001524] xref: DOID:1242 {source="MONDO:equivalentTo"} xref: DOID:5614 {source="MONDO:equivalentTo", source="EFO:0003966"} xref: ICD10:H44 xref: ICD9:360 {source="DOID:5614"} xref: ICD9:360.29 {source="DOID:1242"} xref: ICD9:360.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:360.9 {source="DOID:5614", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:379.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:379.90 {source="DOID:5614", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D005128 {source="DOID:5614", source="MONDO:equivalentTo"} xref: MeSH:D005128 xref: MONDO:0005328 xref: NCIT:C26767 {source="DOID:5614", source="MONDO:equivalentTo"} xref: NCIt:C26767 xref: SCTID:371405004 {source="DOID:5614", source="MONDO:equivalentTo"} xref: UMLS:C0015397 {source="DOID:5614", source="MONDO:equivalentTo", source="NCIT:C26767"} xref: Wikipedia:Eye_disease is_a: EFO:0009664 {source="DOID:5614", source="MONDO:Redundant"} ! disease of orbital region is_a: MONDO:0024458 ! disorder of visual system property_value: exactMatch DOID:1242 property_value: exactMatch DOID:5614 property_value: exactMatch http://identifiers.org/mesh/D005128 property_value: exactMatch http://identifiers.org/snomedct/371405004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015397 property_value: exactMatch NCIT:C26767 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Gautier Koscielny" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5166 xsd:anyURI [Term] id: EFO:0003967 name: vascular sarcoma def: "A sarcoma arising from vascular tissue including arteries, veins, venous sinuses, arterioles and capillaries." [] synonym: "Malignant Blood Vessel Neoplasm" EXACT [] xref: NCIt:C8538 is_a: EFO:0000691 ! sarcoma [Term] id: EFO:0003968 name: angiosarcoma def: "A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma." [NCIT:C3088] subset: ordo_disease {source="Orphanet:263413"} synonym: "angiosarcoma" EXACT [MONDO:ambiguous, NCIT:C3088] synonym: "angiosarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "angiosarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "angiosarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "blood vessel sarcoma" EXACT [] synonym: "hemangiosarcoma" EXACT [DOID:0001816, NCIT:C3088] synonym: "hemangiosarcoma, malignant" EXACT [NCIT:C3088] synonym: "malignant angioendothelioma" EXACT [NCIT:C3088] synonym: "malignant hemangioendothelioma" EXACT [NCIT:C3088] synonym: "sarcoma of blood vessel" EXACT [MONDO:patterns/sarcoma] synonym: "vascular sarcoma" EXACT [] xref: DOID:0001816 {source="MONDO:equivalentTo", source="EFO:0003968"} xref: EFO:0003967 {source="MONDO:equivalentTo"} xref: EFO:0003968 {source="MONDO:equivalentTo"} xref: HP:0200058 {source="MONDO:otherHierarchy"} xref: ICD10:C49.9 {source="ORDO:263413/ntbt", source="Orphanet:263413"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9120/3 {source="NCIT:C3088"} xref: MedDRA:10002476 {source="Orphanet:263413", source="Orphanet:263413/e"} xref: MedDRA:10002476 {source="Orphanet:263413", source="ORDO:263413/e"} xref: MESH:D006394 {source="DOID:0001816", source="MONDO:equivalentTo", source="EFO:0003968"} xref: MONDO:0016982 xref: NCIT:C3088 {source="DOID:0001816", source="MONDO:equivalentTo", source="EFO:0003968"} xref: ONCOTREE:ANGS {source="MONDO:equivalentTo"} xref: Orphanet:263413 {source="MONDO:equivalentTo"} xref: SCTID:403977003 {source="DOID:0001816", source="MONDO:equivalentTo", source="EFO:0003968"} xref: UMLS:C0018923 {source="NCIT:C3088", source="DOID:0001816", source="MONDO:equivalentTo", source="Orphanet:263413"} is_a: EFO:0003967 ! vascular sarcoma is_a: EFO:1001968 {source="Orphanet:263413"} ! soft tissue sarcoma is_a: MONDO:0002095 {source="MESH:D006394", source="MONDO:Redundant", source="NCIT:C3088"} ! vascular cancer property_value: closeMatch http://identifiers.org/meddra/10002476 property_value: closeMatch http://identifiers.org/snomedct/33176006 property_value: closeMatch http://identifiers.org/snomedct/39000009 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0854893 property_value: exactMatch DOID:0001816 property_value: exactMatch DOID:0001816 property_value: exactMatch http://identifiers.org/meddra/10002476 property_value: exactMatch http://identifiers.org/mesh/D006394 property_value: exactMatch http://identifiers.org/mesh/D006394 property_value: exactMatch http://identifiers.org/snomedct/403977003 property_value: exactMatch http://identifiers.org/snomedct/403977003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018923 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018923 property_value: exactMatch NCIT:C3088 property_value: exactMatch NCIT:C3088 property_value: exactMatch Orphanet:263413 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/sarcoma.yaml property_value: IAO:0000589 "angiosarcoma (disease)" xsd:string [Term] id: EFO:0003969 name: treatment protocol def: "A protocol in which the aim is to treat a sample, collection of samples, organism or group of organisms for some experimental analysis of outcome." [] is_a: OBI:0000272 ! protocol property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0003970 name: mouse erythroleukemia cell is_a: EFO:0000324 ! cell type relationship: located_in NCBITaxon:10088 ! Mus [Term] id: EFO:0003971 name: MEL cell line synonym: "MEL" EXACT [] synonym: "Mouse Erythroleukemia cell line" EXACT [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002887 ! mouse cell line property_value: definition:citation https://www.ncbi.nlm.nih.gov/pubmed/21416373 xsd:string [Term] id: EFO:0003972 name: ESHyb def: "A mouse embryonic stem cell hybrid cell line" [] is_a: EFO:0002887 ! mouse cell line property_value: definition:citation "Mikkelsen et al. (2007). Genome-wide maps of chromatin state in pluripotent and lineage-committed cells. Nature 448, 553-560" xsd:string [Term] id: EFO:0004000 name: Mus musculus strain type def: "A designator of mouse strain information indicating the genetic homo or heterogenetity e.g. inbred strain" [] is_a: NCBITaxon:10090 ! Mus musculus property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004001 name: closed colony random bred strain def: "A mouse strain type whereby the strain is propagated by random mating within the stock. No genes are introduced from outside the stock from generation to generation." [] synonym: "CCO" EXACT [] is_a: EFO:0004000 ! Mus musculus strain type property_value: definition:citation http://www.findmice.org/glossary.jsp xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004002 name: coisogenic strain def: "A coisogentic strain is a strain that differs from its progenitor inbred strain at only one locus. A coisogenic strain arises when a mutation occurs in an inbred strain." [] synonym: "COI" EXACT [] is_a: EFO:0004005 ! inbred Mus musculus strain relationship: RO:0000086 EFO:0004429 ! has_quality inbred property_value: definition:citation http://www.findmice.org/glossary.jsp xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004003 name: congenic strain def: "A congenic strain is an inbred strain that contains a small genetic region (ideally a single gene) from another strain, but which is otherwise identical to the original inbred strain. Congenic strains are derived by backcrossing to a parental inbred strain for at least ten generations while selecting for retention of a specific locus from the donor strain. For example, CBACa.C3-KitW-x/J is an inbred strain of CBA/Ca background onto which the KitW-x allele from C3H/HeJ has been placed." [] synonym: "CON" EXACT [] xref: NCIt:C14365 is_a: EFO:0004005 ! inbred Mus musculus strain relationship: RO:0000086 EFO:0004429 ! has_quality inbred property_value: definition:citation http://www.findmice.org/glossary.jsp xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004004 name: consomic strain def: "An inbred strain that contains a single entire chromosome from another strain. Consomic (or Chromosome Substitution Strains) are derived by backcrossing to a parental inbred strain for at least ten generations while selecting for retention of a specific whole chromosome from the donor strain. For example, C57BL/6J-Chr 4A/NaJ is a consomic strain in which the Chromosome 4 from the A/J strain has been placed on a C57BL/6J background." [] synonym: "CSS" EXACT [] xref: NCIt:C14352 is_a: EFO:0004005 ! inbred Mus musculus strain relationship: RO:0000086 EFO:0004429 ! has_quality inbred property_value: definition:citation http://www.findmice.org/glossary.jsp xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004005 name: inbred Mus musculus strain def: "An inbred strain carrying one or more phenotypic mutations. For example, the mutant strain C3H/H3eSn-bc3J/J carries the bouncy 3 Jackson phenotypic mutation." [] is_a: EFO:0004000 ! Mus musculus strain type relationship: RO:0000086 EFO:0004429 ! has_quality inbred property_value: definition:citation http://www.findmice.org/glossary.jsp xsd:string [Term] id: EFO:0004006 name: mutant strain def: "An inbred strain carrying one or more phenotypic mutations. For example, the mutant strain C3H/H3eSn-bc3J/J carries the bouncy 3 Jackson phenotypic mutation." [] synonym: "MSR" EXACT [] is_a: EFO:0004005 ! inbred Mus musculus strain relationship: RO:0000086 EFO:0004429 ! has_quality inbred property_value: definition:citation http://www.findmice.org/glossary.jsp xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004007 name: recombinant congenic strain def: "Strains formed by crossing two inbred strains, followed by a few backcrosses to one of the parental strains, with subsequent inbreeding without selection." [] synonym: "RCS" EXACT [] is_a: EFO:0004003 ! congenic strain property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004008 name: recombinant inbred strain def: "An Inbred strain created by crossing two different inbred strains, followed by brother x sister matings for at least 20 generations. A panel of recombinant inbred strains derived from a cross between the same original parental strains can be used to establish linkage between any marker that is polymorphic between the parental strains and other polymorphic markers that have been typed in each strain in the panel." [] synonym: "RI" EXACT [] xref: NCIt:C14374 is_a: EFO:0004005 ! inbred Mus musculus strain relationship: RO:0000086 EFO:0004429 ! has_quality inbred property_value: definition:citation http://www.findmice.org/glossary.jsp xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004009 name: segregating inbred strain def: "An inbred strain that is kept in forced heterozygosity for one or more loci. For example, the SM/J strain segregates for an agouti allele and animals are either Aw/a (white bellied agouti) or a/a (black) in color." [] synonym: "SEG" EXACT [] is_a: EFO:0004005 ! inbred Mus musculus strain relationship: RO:0000086 EFO:0004429 ! has_quality inbred property_value: definition:citation http://www.findmice.org/glossary.jsp xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004010 name: wild-derived inbred strain def: "Strains formed by brother x sister matings or other inbreeding schemes from mice originally caught in the wild." [] synonym: "WDS" EXACT [] is_a: EFO:0004005 ! inbred Mus musculus strain relationship: RO:0000086 EFO:0004429 ! has_quality inbred property_value: definition:citation http://www.findmice.org/glossary.jsp xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004011 name: major histocompatibility congenic strain def: "A congenic strain in which the donor allele transferred to the host strain background is a major histocompatibility gene." [] synonym: "MAH" EXACT [] is_a: EFO:0004003 ! congenic strain property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004012 name: mating type F xref: MO:717 is_a: EFO:0001268 ! mating type property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0004013 name: balanced reciprocal translocation def: "A reciprocal translocation in which no genetic material is gained or lost in the resulting fusion chromosomes" [] is_a: EFO:0004024 ! translocation created_by: Helen Parkinson [Term] id: EFO:0004014 name: deletion synonym: "DEL" EXACT [] xref: NCIt:C61330 is_a: EFO:0000510 ! genetic modification property_value: definition:citation "A genetic modification in which some nucleic acid is deleted from the genome of an individual" xsd:string property_value: definition:citation http://www.findmice.org/glossary.jsp xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004015 name: duplication def: "A genetic modification in which part of the genome is duplicated" [] synonym: "DP" EXACT [] xref: SNOMEDCT:89049001 is_a: EFO:0000510 ! genetic modification property_value: definition:citation http://www.findmice.org/glossary.jsp xsd:string created_by: Helen Parkinson [Term] id: EFO:0004016 name: insertion synonym: "INS" EXACT [] xref: NCIt:C48685 is_a: EFO:0000510 ! genetic modification property_value: definition:citation http://www.findmice.org/glossary.jsp xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string created_by: Helen Parkinson [Term] id: EFO:0004017 name: inversion synonym: "INV" EXACT [] xref: NCIt:C70653 xref: SNOMEDCT:45027002 is_a: EFO:0000510 ! genetic modification property_value: definition:citation http://www.findmice.org/glossary.jsp xsd:string created_by: A genetic modification in which some portion of the genome is removed and inserted at 180 degrees to the original orientation. created_by: Helen Parkinson [Term] id: EFO:0004018 name: spontaneous mutation def: "A genetic modification which has arisen by a spontaneous mutation in an individual." [] synonym: "SM" EXACT [] is_a: EFO:0000510 ! genetic modification property_value: definition:citation http://www.findmice.org/glossary.jsp xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004019 name: targeted mutation def: "A genetic modification in which a targeted mutation has been introduced into the genome of an individual" [] synonym: "TM" EXACT [] xref: NCIt:C48668 is_a: EFO:0000510 ! genetic modification property_value: definition:citation http://www.findmice.org/glossary.jsp xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004020 name: transgenic def: "A genetic modification in which a transgene has been inserted into an individual" [] synonym: "TG" EXACT [] is_a: EFO:0000510 ! genetic modification property_value: definition:citation http://www.findmice.org/glossary.jsp xsd:string [Term] id: EFO:0004021 name: transposition def: "A genetic modification introduced into an individual as the result of transposase activity" [] synonym: "TP" EXACT [] xref: SNOMEDCT:56591001 is_a: EFO:0000510 ! genetic modification property_value: definition:citation http://www.findmice.org/glossary.jsp xsd:string created_by: Helen Parkinson [Term] id: EFO:0004022 name: reciprocal translocation def: "A type of chromosome rearrangement in which two nonhomologous chromosomes are each broken and then repaired in such a way that the resulting chromosomes each contain material from the other chromosome (a reciprocal translocation)." [] xref: NCIt:C28444 xref: SNOMEDCT:90230001 is_a: EFO:0004024 ! translocation property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004023 name: obsolete_Roberstonian translocation property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication.\n\nUse: http://www.ebi.ac.uk/efo/EFO_0000393 Label: Robertsonian translocation" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000393 [Term] id: EFO:0004024 name: translocation def: "A type of chromosome rearrangement in which two nonhomologous chromosomes are each broken and then repaired" [] synonym: "TL" EXACT [] xref: NCIt:C89777 is_a: EFO:0000336 ! chromosomal aberration property_value: definition:citation http://www.findmice.org/glossary.jsp xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004025 name: AA86 def: "C. elegans Daf-d, weak heterochronic phenotypes in seam, somatic gonad, intestine. Class III allele." [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation https://dbw6.msi.umn.edu/cgcdb/strain.php?id=5448 xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004026 name: AA87 def: "C. elegans Daf-c, gonadal Mig, weak heterochronic phenotypes in intestine and seam. Class VI allele." [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation https://dbw6.msi.umn.edu/cgcdb/strain.php?id=5449 xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004027 name: AA89 def: "C. elegans daf-c. Gonald Mig. Weak heterochronic phenotypes in intestine. Class VI allele." [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation https://dbw6.msi.umn.edu/cgcdb/strain.php?id=5451 xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004028 name: N2 def: "C. elegans wild isolate var Bristol. Generation time is about 3 days. Brood size is about 350. Also CGC reference 257. Isolated from mushroom compost near Bristol, England by L.N. Staniland. Cultured by W.L. Nicholas, identified to genus by Gunther Osche and species by Victor Nigon; subsequently cultured by C.E. Dougherty. Given to Sydney Brenner ca. 1966. Subcultured by Don Riddle in 1973. Caenorhabditis elegans wild isolate. DR subclone of CB original (Tc1 pattern I)." [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation https://dbw6.msi.umn.edu/cgcdb/strain.php?id=10570 xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004029 name: Drosophila simulans HW09 def: "Drosophila simulans isofemale line; siI haplotype; originally collected from Honolulu, Hawaii in 1998" [] is_a: NCBITaxon:7240 ! Drosophila simulans property_value: definition:citation "Ballard JW. Comparative genomics of mitochondrial DNA in Drosophila simulans.\nJ Mol Evol. 2000 Jul;51(1):64-75. PubMed PMID: 10903373 doi:10.1007/s002390010067" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004030 name: gene trap def: "A genetic modification induced by insertion of a nucleic acid construct containing a reporter gene sequence downstream of a splice acceptor site that is capable of integrating into random chromosomal locations Integration of the gene trap into an intron allows the expression of a new mRNA containing one or more upstream exons followed by the reporter gene. The reporter gene is therefore expressed in the same cells and developmental stages as the gene into which the gene trap has inserted." [] synonym: "GT" EXACT [] is_a: EFO:0000510 ! genetic modification property_value: definition:citation "Ballard JW. Comparative genomics of mitochondrial DNA in Drosophila simulans.\nJ Mol Evol. 2000 Jul;51(1):64-75. PubMed PMID: 10903373 doi:10.1007/s002390010067" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004031 name: Drosophila simulans NC48 def: "Crosophila simulans isofemale line; siI haplotype; originally collected from Noumea, New Caledonia in 1991" [] is_a: NCBITaxon:7240 ! Drosophila simulans property_value: definition:citation "Ballard JW. Comparative genomics of mitochondrial DNA in Drosophila simulans.\nJ Mol Evol. 2000 Jul;51(1):64-75. PubMed PMID: 10903373 doi:10.1007/s002390010067" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004032 name: Drosophile simulans MD106 def: "Drosophila simulans isofemale line, siII haplotype; originally collected from Ansirabe, Madagascar in 1998" [] is_a: NCBITaxon:7240 ! Drosophila simulans property_value: definition:citation http://www.findmice.org/glossary.jsp xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004033 name: experiment accession is_a: IAO:0000030 ! information entity [Term] id: EFO:0004034 name: discretized differential expression is_a: IAO:0000030 ! information entity [Term] id: EFO:0004035 name: mating type F minus xref: MO:682 is_a: EFO:0001268 ! mating type property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0004036 name: mating type h plus xref: MO:855 is_a: EFO:0001268 ! mating type property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0004037 name: MEF cell line def: "Mouse embryonic fibroblast cell line" [] is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002887 ! mouse cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004038 name: mouse embryonic stem cell def: "mouse embryonic stem cell" [] is_a: CL:0002321 ! embryonic cell (metazoa) relationship: located_in NCBITaxon:10088 ! Mus relationship: RO:0000056 UBERON:0000922 ! participates_in embryo property_value: definition:citation "Mikkelsen et al. (2007). Genome-wide maps of chromatin state in pluripotent and lineage-committed cells. Nature 448, 553-560" xsd:string [Term] id: EFO:0004039 name: mouse neural progenitor cell synonym: "Mouse NPC" EXACT [] is_a: EFO:0000324 ! cell type relationship: located_in NCBITaxon:10088 ! Mus [Term] id: EFO:0004040 name: mouse embryonic fibroblast cell def: "Mouse embryonic fibroblast cell" [] synonym: "MEF cell" EXACT [] is_a: CL:0000057 ! fibroblast relationship: located_in NCBITaxon:10088 ! Mus property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004041 name: NPC def: "Mouse Neural Progenitor cell line" [] synonym: "Mouse Neural Progenitor cell line" EXACT [] is_a: EFO:0002887 ! mouse cell line property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004042 name: AB1 def: "Strain of C. elegans described with phenotypes such as; increased social feeding, foraging behavior variant, carbon dioxide response variant, bordering" [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=AB1;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004043 name: AB2 def: "Strain of C. elegans" [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=AB2;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004044 name: CB30 def: "Strain of C. elegans described as small, recessive, abnormal bursae, males abnormal with M-MATING-NO SUCCESS." [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=CB30;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004045 name: CB88 def: "Strain of C. elegans" [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=CB88;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004046 name: CB128 def: "C. elegans strain described as \"Small Dpy\"" [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=CB128;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004047 name: CB184 def: "Strain of C. elegans described as \"Semi-dominant Dpy. Mapping marker standard. M-MATING++ 1-10%WT.\"" [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=CB184;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004048 name: CB185 def: "C. elegans strain described with phenotypes \"Long. Abnormal bursae. Epistatic to Small. Recessive. M-MATING-NO SUCCESS.\"" [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=CB185;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004049 name: CB491 def: "Strain of C. elegans described with phenotypes \"Small. Recessive. Males abnormal-abnormal spicules. M-MATING-NO SUCCESS.\"" [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=CB491;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004050 name: CB678 def: "Strain of C. elegans described as \"Long. Mapping marker standard. M-MATING++++ >30%WT.\"" [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=CB678;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004051 name: CB4555 def: "C. elegans strain described with phenotypes; solitary feeding increased, foraging behavior variant." [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=CB4555;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004052 name: CB4853 def: "C. elegans strain with phenotypes; social feeding increased, foraging behavior variant, carbon dioxide response variant, bordering." [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=CB4853;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004053 name: CB4854 def: "C. elegans strain described with phenotypes; social feeding increased, foraging behavior variant, bordering." [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=CB4854;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004054 name: CB4855 def: "C. elegans strain with phenotypes; social feeding increased, foraging behavior variant, bordering." [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=CB4855;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004055 name: CB4856 def: "C. elegans strain with phenotypes; social feeding increased, cryophilic, pathogen susceptibility increased (Esp), biofilm absent head (Bah), carbon dioxide response variant, pathogen load variant" [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=CB4856;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004056 name: CB4857 def: "C. elegans strain described with phenotypes; solitary feeding increased, foraging behavior variant, bordering." [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=CB4857;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004057 name: CB4932 def: "C. elegans strain described with phenotypes; social feeding increased, foraging behavior variant, bordering" [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=CB4932;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004058 name: MT3847 def: "C. elegans strain described as \"long\"." [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=MT3847;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004059 name: RC301 def: "C. elegans strain described with phenotypes; social feeding increased, foraging behavior variant, bordering." [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=RC301;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004060 name: TR389 def: "C. elegans strain with phenotypes; solitary feeding increased, foraging behavior variant." [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=TR389;class=Strain xsd:string [Term] id: EFO:0004061 name: TR403 def: "C. elegans strain with phenotypes; solitary feeding increased, foraging behavior variant." [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=TR403;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004062 name: NL2099 def: "C. elegans strian. Additional remarks include \"Homozygous rrf-3 deletion allele. Increased sensitivity to RNAi when compared to WT animals. Deletion sequence (deletion in lower case letters, flanking undeleted sequence in capital letters): TGCACATATTctacagaatt ------- --------tacccgattaAATGGACAATT (from Plasterk Lab 11/05).\"" [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=NL2099;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004063 name: AF16 def: "Strain of C. briggsae described with phenotypes; biofilm absent head (Bah), carbon dioxide response variant, mate finding defective" [] is_a: NCBITaxon:6238 ! Caenorhabditis briggsae property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=AF16;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004064 name: VT847 def: "Strain of C. briggsae defined as having biofilm absent head (Bah)." [] is_a: NCBITaxon:6238 ! Caenorhabditis briggsae property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=VT847;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004065 name: HK104 def: "Strain of C. briggsae" [] is_a: NCBITaxon:6238 ! Caenorhabditis briggsae property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=HK104;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004066 name: EM464 def: "Strain of C. remanei described as having biofilm absent head (Bah)." [] is_a: NCBITaxon:31234 ! Caenorhabditis remanei property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=EM464;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004067 name: SB146 def: "Strain of R. remanei" [] is_a: NCBITaxon:446304 ! Rhabditis remanei property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=SB146;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004068 name: DF5033 def: "Strain of O dolichura, collected by a Belgian expedition to the Galapagos archipelago." [] is_a: NCBITaxon:473156 ! Oscheius dolichura property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=DF5033;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004069 name: DF5018 def: "Strain of O. dolichuroides, Isolated by W. Sudhaus in April 1978 from decaying matter in a hole in a tree in Malindi, Kenya." [] is_a: NCBITaxon:96645 ! Oscheius dolichuroides property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=DF5018;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004070 name: EM435 def: "Strain of O. myriophila, isolated by D. Fitch in June 1990 from soil in Scott Emmons' compost heap in the Fort Greene section of Brooklyn, NY. A second strain, DF5038, was isolated from the same location one year later from the head and ventral segments of a male pill bug (Armadillidium vulgare). Hermaphroditic. Males are easily isolated by heat shocking L4 or early adult hermaphrodites at 30C for 6-12 hrs. Grows well at 6-25C on OP50. Dauer larvae accumulate under starved or overcrowded conditions. Freezes easily using C. elegans protocols with 90% viability. Previously called Rhabditis sp. See also WBPaper00003418." [] is_a: NCBITaxon:281680 ! Oscheius myriophila property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=EM435;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004071 name: CEW1 def: "Strain of O. tipulae, isolated in 1991 by Carlos E. Winter in soil samples taken at the University of Sao Paulo in Brazil. Hermaphrodite strain. Adults are 1.5mm. The life cycle is a little longer than C. elegans at 22C. Each lays about 300 eggs in the three days following the moult from L4 to adult. Eggs are laid just after being fertilized resulting sometimes in plates with many eggs (much more than C. elegans). See Comp. Biochem. Physiol 103B: 189, 1992. See Nematology 2(1): 89-98, 2000. Can be grown and maintained on NGM. L1s easily frozen and stored in liquid nitrogen." [] is_a: NCBITaxon:141969 ! Oscheius tipulae property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=CEW1;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004072 name: AA120 def: "Strain of C. elegans." [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=AA120;class=Strain xsd:string [Term] id: EFO:0004073 name: CB66 def: "Strain of C. elegans, remarked as a \"twitcher\"." [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?query=CB66;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004074 name: CB120 def: "Strain of C. elegans, remarked as uncoordinated and may contain a weak daf-2 mutation (sa875)." [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?query=%20CB120;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004075 name: CB155 is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=CB155;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004076 name: CB189 def: "Strain of C. elegans, remarked as Coiler Unc, severe, recessive." [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?query=CB189;class=Strain xsd:string [Term] id: EFO:0004077 name: CB205 def: "Strain of C. elegans, remarked as growth slow, Unc and small, revertible." [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?query=CB205;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004078 name: CB306 def: "Strain of C. elegans Levamisole resistant, recessive, Kinky Unc." [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?query=CB306;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004079 name: CB1370 def: "Strain of C. elegans, remarked as temperature sensitive dauer constitutive, maintan at 15C, 100% dauers at 25C. 15% dauer formation at 20C. Long-lived." [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=CB1370;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004080 name: DR20 def: "C. elegans strain remarked as defective dauer formation. Hermaphrodites accumulate oocytes. Males mate poorly." [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?query=DR20;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004081 name: DR26 def: "Strain of C. elegans, described as Dauer defective-leaky. Somewhat small. Suppresses daf-2." [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=DR26;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004082 name: DR40 def: "C. elegans, described as temperature sensitive dauer constitutive. 100% dauers at 25C. Dauer recovery poor at 15C. Maternal effect. Egg retainer." [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?query=DR40;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004083 name: DR47 def: "C. elegans strain, described as temperature sensitive, leaky at 25C. Dauers recover poorly at 15C. Dauers escape plates. Recessive. Chemotaxis defective (Na+)" [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?query=DR47;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004084 name: DR1564 def: "C. elegans strain, described as temperature-sensitive dauer-consitutive, long-lived, intrinsically thermotolerant. Adults slightly shorter than adults of other daf-2 alleles. Up to 6% of L1s arrest at 25.5C. Makes nearly 100% dauers at 25C, 0% dauers at 15C. Good recovery of dauers at 15C." [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?query=DR1564;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004085 name: DR1567 def: "Strain of C. elegans, described as Class 1 allele of daf-2. Temperature sensitive Daf-c. Adults are long-lived (Age) and exhibit extrinsic thermotolerance (Itt)." [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?query=DR1567;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004086 name: DR1572 def: "Strain of C. elegans, described as Class 1 allele of daf-2. Temperature sensitive Daf-c. Adults are long-lived (Age) and exhibit extrinsic thermotolerance (Itt)." [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=DR1572;class=Strain xsd:string [Term] id: EFO:0004087 name: GR1307 is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=GR1307;class=Strain xsd:string property_value: IAO:0000117 "C. elegans strain, described as deficiency completely eliminates daf-16 coding region. Makes partial dauers on pheromone." xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004088 name: JT709 def: "C. elegans strain described as Daf-c at 27C. Weakly Egl and Clumpy." [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=JT709;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004089 name: SS149 def: "C. elegans strain. Remarks include: the embryos from homozygous mutant mothers display defects in the unequal cell divisions of P2 and P3, defects in partitioning of germ granules during these divisions, and defects in formation of the germ-line precursor cell P4. The embryos that lack P4 develop into sterile adults. These defects are incompletely expressed and sensitive to temperature. Homozygous mothers produce about 10% sterile progeny at 16C and 70% sterile progeny at 25C. The temperature sensitive period is early in embryogenesis, from fertilization to about the 28-cell stage." [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=SS149;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004090 name: MQ887 def: "C. elegans strain, described as having slow development and behavior." [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=MQ887;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004091 name: TK22 def: "C. elegans strain, described as Methylviologen (paraquat) sensitive, oxygen sensitive and having a short life span." [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=TK22;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004092 name: VC199 def: "C. elegans strain, described as Superficially wild type. This strain was provided by the C. elegans Reverse Genetics Core Facility at UBC, which is part of the International C. elegans Gene Knockout Consortium" [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?query=VC199;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004093 name: CB4858 def: "Strain of C. elegans." [] is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/db/gene/strain?name=CB4858;class=Strain xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004094 name: scanned image def: "An image prodcued as the result of a scan, such as a medical scanner or array scanner." [] is_a: IAO:0000101 ! image property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004095 name: data file def: "A file stored for use on a computer containing data." [] synonym: "computer data file" EXACT [] synonym: "electronic data file" EXACT [] is_a: IAO:0000030 ! information entity property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004096 name: processed array data file def: "A data file containing array data which has been processed in some way using a data transformation." [] synonym: "derived array data file" EXACT [] is_a: EFO:0004098 ! array data file [Term] id: EFO:0004097 name: MAGE-TAB array data matrix file def: "An array data file which has been transformed into a matrix format as defined by MAGE-TAB specification." [] is_a: EFO:0004098 ! array data file property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004098 name: array data file def: "A data file which contains data produced as the result of running an array." [] is_a: EFO:0004095 ! data file property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004099 name: derived MAGE-TAB array data matrix file def: "AMAGE-TAB array data matrix file which has been transformed using some data processing/transformation method." [] is_a: EFO:0004097 ! MAGE-TAB array data matrix file property_value: IAO:0000117 "james Malone" xsd:string [Term] id: EFO:0004100 name: interleukin def: "An interleukin is a multifunctional cytokine produced by leukocytes for regulating immune responses." [] xref: NCIt:C20497 xref: SNOMEDCT:38476002 is_a: EFO:0003786 ! cytokine relationship: has_role EFO:0003787 ! cytokine role property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004101 name: obsolete_validation type def: "Type of factor that can be used in the Atlas database" [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.96" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0004102 name: obsolete_seq library strategy def: "Sequencing library strategy permitted in Atlas" [] synonym: "seq_library_strategy" EXACT [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.96" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0004103 name: obsolete_seq file type def: "Sequencing file type permitted in Atlas" [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.96" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0004104 name: obsolete_seq library source def: "Sequencing library source permitted in Atlas" [] synonym: "seq_library_source" EXACT [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.96" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0004105 name: obsolete_seq library selection def: "Sequencing library selection permitted in Atlas" [] synonym: "seq_library_selection" EXACT [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.96" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0004106 name: obsolete_seq instrument model def: "Sequencing instrument model included in Atlas" [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.96" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0004107 name: obsolete_Atlas Quality Control type def: "Quality control type permitted in Atlas" [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.96" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0004108 name: obsolete_Atlas experiment type def: "Experiment type permitted in Atlas" [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.96" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0004109 name: obsolete_factor type def: "Factor type permitted in Atlas" [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.29" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "query class, this will be replaced by dynamic query in software that uses it" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0004110 name: obsolete_validation flag def: "Flag to mark any term permitted in Atlas" [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.96" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0004111 name: obsolete_seq file type flag def: "Flag for Atlas sequencing file types" [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.96" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0004112 name: obsolete_seq library strategy flag def: "Flag for Atlas sequencing library strategies" [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.96" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0004113 name: obsolete_seq library source flag def: "Flag for Atlas sequencing library sources" [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.96" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0004114 name: obsolete_seq library selection flag def: "Flag for Atlas sequencing library selections" [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.96" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0004115 name: obsolete_seq instrument model flag def: "Flag for Atlas sequencing instrument models" [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.96" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0004116 name: obsolete_QC type flag def: "Flag for Atlas quality control types" [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.96" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0004117 name: obsolete_Atlas experiment type flag def: "Flag for Atlas experiment types" [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.96" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0004118 name: obsolete_factor type flag def: "Flag for Atlas factor types" [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.96" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0004119 name: obsolete_AE experiment type flag def: "Flag for ArrayExpres experiment types" [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.96" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0004120 name: obsolete_ArrayExpress experiment type def: "Experiment type permitted specifically in ArrayExpress" [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.96" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0004121 name: obsolete_achondroplasia xref: OMIM:100800 property_value: definition:citation http://purl.org/obo/owl/DOID#DOID_4480 xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_15' instead.\nNew Label : Achondroplasia" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_15 [Term] id: EFO:0004122 name: obsolete_neurofibromatosis type II synonym: "neurofibromatosis type 2" EXACT [] xref: MeSH:DO16518 xref: OMIM:101000 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_637' instead.\nNew Label : Neurofibromatosis type 2" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_637 [Term] id: EFO:0004123 name: obsolete_acrocephalosyndactylia def: "A synostosis that results in craniosynostosis and syndactyly." [] xref: DOID:12960 xref: MeSH:D000168 xref: OMIM:101200 xref: OMIM:101400 xref: OMIM:101600 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.98" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication\nUse http://www.orpha.net/ORDO/Orphanet_946\nLabel : Acrocephalosyndactyly" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_946 [Term] id: EFO:0004124 name: obsolete_Darier's disease def: "Darier's disease is an autosomal dominant disorder discovered by French dermatologist Ferdinand-Jean Darier. Darier's is characterized by dark crusty patches on the skin, sometimes containing pus. The crusty patches are also known as keratotic papules, keratosis follicularis or dyskeratosis follicularis." [] synonym: "Keratosis follicularis" EXACT [] xref: DOID:2734 xref: OMIM:101900 xref: SNOMEDCT:48611009 xref: Wikipedia:Darier%27s_disease property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.90" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_218 [Term] id: EFO:0004125 name: growth hormone-secreting pituitary adenoma def: "Mild forms of the disease are the most common, consisting solely of skin rashes that flare-up under certain conditions such as high humidity, high stress or tight-fitting clothes. Even in mild forms, short stature combined with poorly formed fingernails containing vertical striations are diagnostic." [] xref: MeSH:D049912 xref: OMIM:102200 xref: OMIM:300943 is_a: EFO:0000508 ! genetic disorder property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0004126 name: Adie syndrome def: "A rare syndrome characterized by an abnormally dilated pupil, hypoflexia, and diaphoresis. The syndrome is usually caused by a viral or bacterial infection. The abnormally dilated pupil is caused by damage to postganglionic parasympathetic fibers innervating the eye." [NCIT:C34357] def: "A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon. " [] subset: ordo_disease {source="Orphanet:454718"} synonym: "Adie pupil" EXACT [OMIM:103100] synonym: "Adie Syndrome" EXACT [] synonym: "Adie syndrome" EXACT [MONDO:0007069, OMIM:103100, Orphanet:454718] synonym: "Adie's pupil" EXACT [GARD:0005749] synonym: "Adie's pupil or syndrome" EXACT [DOID:11549] synonym: "Adie's pupil syndrome" EXACT [DOID:11549] synonym: "Adie's syndrome" EXACT [DOID:11549] synonym: "Holmes-Adie syndrome" EXACT [DOID:11549, NCIT:C34357, OMIM:103100] synonym: "Holmes-Adie syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "poorly Reacting pupils" RELATED [OMIM:103100] synonym: "Tonic Pupil" EXACT [] synonym: "tonic pupil" EXACT [NCIT:C34357] synonym: "tonic pupil-tendon areflexia syndrome" EXACT [Orphanet:454718] synonym: "tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes" RELATED [GARD:0005749] xref: DOID:11549 {source="EFO:0004126", source="MONDO:equivalentTo"} xref: MESH:D000270 {source="DOID:11549", source="EFO:0004126", source="MONDO:equivalentTo"} xref: MeSH:D000270 xref: MeSH:D015845 xref: MONDO:0018690 xref: NCIT:C34357 {source="DOID:11549", source="MONDO:equivalentTo"} xref: OMIM:103100 {source="DOID:11549", source="EFO:0004126", source="MONDO:equivalentTo", source="Orphanet:454718/ntbt", source="Orphanet:454718"} xref: Orphanet:454718 {source="MONDO:equivalentTo"} xref: SCTID:24225004 {source="DOID:11549", source="MONDO:equivalentTo"} xref: UMLS:C0001519 {source="DOID:11549", source="OMIM:103100", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C34357", source="Orphanet:454718"} is_a: EFO:0000618 ! nervous system disease is_a: MONDO:0002254 {source="DOID:11549", source="NCIT:C34357"} ! syndromic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120"} ! rare property_value: exactMatch DOID:11549 property_value: exactMatch http://identifiers.org/mesh/D000270 property_value: exactMatch http://identifiers.org/snomedct/24225004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001519 property_value: exactMatch https://omim.org/entry/103100 property_value: exactMatch NCIT:C34357 property_value: exactMatch Orphanet:454718 property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0004127 name: hyperthyroxinemia def: "Abnormally elevated THYROXINE level in the BLOOD." [] def: "Abnormally elevated thyroxine level in the blood." [EFO:0004127] synonym: "hyperthyroxinemia" EXACT [] {comment="preferred label from MONDO"} xref: DOID:2855 {source="EFO:0004127", source="MONDO:equivalentTo"} xref: HGNC:399 {source="EFO:0004127"} xref: MESH:D006981 {source="EFO:0004127", source="MONDO:equivalentTo", source="DOID:2855"} xref: MeSH:D006981 xref: MONDO:0005333 xref: OMIM:103600 xref: OMIM:145680 xref: OMIM:615999 xref: UMLS:C0020551 {source="MONDO:equivalentTo", source="DOID:2855"} is_a: EFO:1000627 {source="DOID:2855", source="MESH:D006981"} ! thyroid disease property_value: exactMatch DOID:2855 property_value: exactMatch http://identifiers.org/mesh/D006981 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020551 property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0004128 name: hereditary nephritis def: "A group of inherited conditions characterized initially by HEMATURIA and slowly progressing to RENAL INSUFFICIENCY. The most common form is the Alport syndrome (hereditary nephritis with HEARING LOSS) which is caused by mutations in genes for TYPE IV COLLAGEN and defective GLOMERULAR BASEMENT MEMBRANE." [] def: "A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane." [EFO:0004128] synonym: "familial nephritis" RELATED [MESH:D009394] synonym: "hereditary nephritis" EXACT [MESH:D009394, MONDO:patterns/hereditary] synonym: "hereditary nephritis" EXACT [] {comment="preferred label from MONDO"} synonym: "nephritis, familial" RELATED [MESH:D009394] synonym: "nephritis, hereditary" EXACT [] xref: MESH:D009394 {source="MONDO:equivalentTo", source="EFO:0004128"} xref: MeSH:D009394 xref: MONDO:0005334 xref: SCTID:399340005 {source="MONDO:equivalentTo"} is_a: EFO:1002050 {source="MESH:D009394", source="MONDO:Entailed", source="MONDO:Redundant"} ! nephritis is_a: MONDO:0100191 ! inherited kidney disorder intersection_of: EFO:1002050 ! nephritis intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/mesh/D009394 property_value: exactMatch http://identifiers.org/snomedct/399340005 property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0004129 name: familial amyloid neuropathy def: "Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur." [Orphanet:85447] def: "The familial amyloid neuropathies are a rare group of autosomal dominant neuropathies of autonomic and peripheral nerves." [] subset: ordo_disease {source="Orphanet:85447"} synonym: "amyloid cardiomyopathy, transthyretin-related" RELATED [OMIM:105210] synonym: "amyloid Neuropathies, familial" EXACT [NCIT:C84554] synonym: "amyloid polyneuropathy, familial" RELATED [OMIM:105210] synonym: "amyloidosis transthyretin related" RELATED [GARD:0000656] synonym: "amyloidosis, hereditary, transthyretin-related" EXACT [DOID:0050638] synonym: "amyloidosis, leptomeningeal, transthyretin-related" RELATED [OMIM:105210] synonym: "ATTRV30M amyloidosis" RELATED [Orphanet:85447] synonym: "ATTRV30M-related amyloidosis" EXACT [Orphanet:85447] synonym: "Corino de Andrade's disease" EXACT [DOID:0050638] synonym: "familial amyloid neuropathy" EXACT [] {comment="preferred label from MONDO"} synonym: "familial amyloid polyneuropathy" EXACT [DOID:0050638] synonym: "familial amyloid polyneuropathy type I" EXACT [Orphanet:85447] synonym: "familial amyloid polyneuropathy type I (Portuguese-Swedish-Japanese type)" EXACT [Orphanet:85447] synonym: "familial amyloid polyneuropathy, Portuguese-Swedish-Japanese type" EXACT [Orphanet:85447] synonym: "familial transthyretin amyloidosis" EXACT [DOID:0050638] synonym: "hereditary amyloidosis, transthyretin-related" RELATED [OMIM:105210] synonym: "paramyloidosis" EXACT [https://globalgenes.org/raredaily/today-is-paramyloidosis-observanc-day/] synonym: "transthyretin amyloid neuropathy" EXACT [Orphanet:85447] synonym: "transthyretin amyloid polyneuropathy" EXACT [Orphanet:85447] synonym: "transthyretin amyloidosis" RELATED [OMIM:105210] synonym: "transthyretin-related hereditary amyloidosis" EXACT [DOID:0050638] synonym: "TTR amyloid neuropathy" EXACT [Orphanet:85447] synonym: "TTR amyloidosis" EXACT [DOID:0050638] xref: DOID:0050638 {source="MONDO:equivalentTo"} xref: DOID:0050761 {source="MONDO:equivalentObsolete"} xref: ICD10EXP:E85.1+ {source="Orphanet:85447/inclusion", source="Orphanet:85447", source="Orphanet:85447/ntbt"} xref: ICD10EXP:G63.3* {source="Orphanet:85447/inclusion", source="Orphanet:85447", source="Orphanet:85447/e"} xref: ICD9:277.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C567782 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: MONDO:0007100 xref: NCIT:C84554 {source="EFO:0004129", source="MONDO:equivalentTo"} xref: NCIt:C84554 xref: OMIM:105210 {source="EFO:0004129", source="MONDO:equivalentTo", source="Orphanet:85447", source="DOID:0050638", source="Orphanet:85447/e"} xref: Orphanet:85447 {source="OMIM:105210", source="MONDO:equivalentTo"} xref: SCTID:42295001 {source="MONDO:equivalentTo"} xref: UMLS:C0206245 {source="MONDO:equivalentTo", source="Orphanet:85447", source="NCIT:C84554"} xref: UMLS:C2751492 {source="OMIM:105210", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015923 ! acquired peripheral neuropathy is_a: MONDO:0017132 {source="Orphanet:85447"} ! hereditary ATTR amyloidosis is_a: MONDO:0020127 {source="MONDO:0016134-obsoleted"} ! hereditary peripheral neuropathy property_value: exactMatch DOID:0050638 property_value: exactMatch http://identifiers.org/mesh/C567782 property_value: exactMatch http://identifiers.org/snomedct/42295001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206245 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751492 property_value: exactMatch https://omim.org/entry/105210 property_value: exactMatch NCIT:C84554 property_value: exactMatch Orphanet:85447 [Term] id: EFO:0004130 name: obsolete_Diamond-Blackfan anemia def: "Diamond–Blackfan anemia (DBA), is a congenital erythroid aplasia that usually presents in infancy and results in low red blood cell counts (anemia)." [] xref: MeSH:D029503 xref: OMIM:105650 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.54" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate with Orphanet ontology class which should be used instead:\nhttp://www.orpha.net/ORDO/Orphanet_124" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_124 [Term] id: EFO:0004131 name: obsolete_Angelman syndrome xref: MeSH:D054179 xref: OMIM:106100 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_72' instead.\nNew Label : Angelman syndrome" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_72 [Term] id: EFO:0004132 name: obsolete_aniridia xref: MeSH:D015783 xref: OMIM:106210 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_77' instead.\nNew Label : Aniridia" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_77 [Term] id: EFO:0004133 name: obsolete_angioedemas, hereditary property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0004134 name: tumor size def: "The physical size of a tumor." [] synonym: "size of tumor" EXACT [] xref: NCIt:C120284 xref: SNOMEDCT:263605001 is_a: EFO:0001444 ! measurement property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004135 name: obsolete_Machado-Joseph disease def: "Machado–Joseph disease (MJD) is a rare autosomal, dominantly inherited neurodegenerative disease that causes progressive cerebellar ataxia, which results in a lack of muscle control and coordination of the upper and lower extremities" [] synonym: "Azorean disease" EXACT [] synonym: "Spinocerebellar ataxia type 3 (SCA3)" EXACT [] xref: DOID:1440 xref: MeSH:D017827 xref: OMIM:109150 property_value: definition:citation web:http://en.wikipedia.org/wiki/Machado%E2%80%93Joseph_disease xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.33" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate of class http://purl.obolibrary.org/obo/MONDO_0007182" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/MONDO_0007182 [Term] id: EFO:0004136 name: obsolete_basal cell nevus syndrome def: "Basal cell nevus syndrome is a group of defects, passed down through families, that involve the skin, nervous system, eyes, endocrine glands, and bones. The condition causes an unusual facial appearance and a higher risk of skin cancers." [] xref: MeSH:D001478 xref: OMIM:109400 property_value: definition:citation "NLM MedlinePlus" xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_377' instead.\nNew Label : Gorlin syndrome" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_377 [Term] id: EFO:0004137 name: obsolete_epidermolytic hyperkeratosis def: "A rare skin disease which involves the clumping of keratin filaments and initally presents as a fragile layer of skin which blisters on touch ofen followed by scaling of the skin." [] synonym: "bullous congenital ichthyosiform erythroderma" EXACT [] synonym: "bullous ichthyosiform erythroderma" EXACT [] xref: MeSH:D0017488 xref: OMIM:113800 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_312' instead.\nNew Label : Epidermolytic ichthyosis" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_312 [Term] id: EFO:0004138 name: bundle branch block def: "A bundle branch block refers to a defect of the heart's electrical conduction system in which the bundle branch may cease to conduct electrical impulses appropriately. This results in altered pathways for ventricular depolarization. Since the electrical impulse can no longer use the preferred pathway across the bundle branch, it may move instead through muscle fibers in a way that both slows the electrical movement and changes the directional propagation of the impulses. As a result, there is a loss of ventricular synchrony, ventricular depolarization is prolonged, and there may be a corresponding drop in cardiac output. When heart failure is present, a specialized pacemaker may be used to resynchronize the ventricles" [] synonym: "bundle-branch block" EXACT [] xref: ICD10:I44 xref: MedDRA:10006578 xref: MedDRA:10006583 xref: MedDRA:10006584 xref: MeSH:D002037 xref: OMIM:113900 xref: SNOMEDCT:6374002 is_a: EFO:0005137 ! conduction system disorder property_value: definition:citation "derived from wikipedia http://en.wikipedia.org/wiki/Bundle_branch_block" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004139 name: obsolete_Caffey disease def: "A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has_symptom soft-tissue swelling, has_symptom bone lesions, and has_symptom irritability." [] synonym: "congenital cortical hyperostosis" EXACT [] xref: DOID:4257 xref: MeSH:D006958 xref: OMIM:114000 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_1310' instead.\nNew Label : Caffey disease" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_1310 [Term] id: EFO:0004140 name: obsolete_campomelic dysplasia def: "An osteochondrodysplasia that is caused by a mutation in chromosome 17 which results in bowing in the tibia or femur." [] synonym: "acampomelic campomelic dysplasia" EXACT [] xref: DOID:0050463 xref: MeSH:D055036 xref: OMIM:114290 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_140' instead.\nNew Label : Campomelic dysplasia" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_140 [Term] id: EFO:0004141 name: obsolete_perineum def: "Subdivision of trunk proper, which is demarcated from the pelvis by the inferior surface of the pelvic diaphragm and from the lower limbs by the perineofemoral lines; together with the thorax, and abdomen, it constitutes the trunk proper. Perineum includes the anal and urinary genital region." [] xref: FMA:9579 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0002356\nlabel: perineum" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002356 [Term] id: EFO:0004142 name: colorectal neoplasm alt_id: MONDO:0021236 def: "A benign or malignant neoplasm that affects the colon or rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colorectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." [NCIT:C2956] synonym: "colorectal neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "colorectal neoplasm" EXACT [NCIT:C2956] synonym: "colorectal neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "colorectal tumor" EXACT [NCIT:C2956] synonym: "colorectal tumour" EXACT OMO:0003005 [] synonym: "colorectum neoplasm" EXACT [] synonym: "colorectum neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "colorectum tumor" EXACT [MONDO:patterns/neoplasm] synonym: "colorectum tumour" EXACT OMO:0003005 [] synonym: "large bowel neoplasm" EXACT [NCIT:C2956] synonym: "large bowel tumor" EXACT [NCIT:C2956] synonym: "large bowel tumour" EXACT OMO:0003005 [] synonym: "large intestinal neoplasm" EXACT [NCIT:C2956] synonym: "large intestine neoplasm" EXACT [NCIT:C2956] synonym: "large intestine tumor" EXACT [NCIT:C2956] synonym: "large intestine tumour" EXACT OMO:0003005 [] synonym: "neoplasm of colorectum" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of large bowel" EXACT [NCIT:C2956] synonym: "neoplasm of the large bowel" EXACT [NCIT:C2956] synonym: "tumor of colorectum" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of large bowel" EXACT [NCIT:C2956] synonym: "tumor of the large bowel" EXACT [NCIT:C2956] synonym: "tumour of colorectum" EXACT OMO:0003005 [] synonym: "tumour of large bowel" EXACT OMO:0003005 [] synonym: "tumour of the large bowel" EXACT OMO:0003005 [] xref: EFO:0004142 {source="MONDO:equivalentTo"} xref: MESH:D015179 {source="MONDO:equivalentTo", source="EFO:0004142"} xref: MONDO:0005335 xref: NCIT:C2956 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:0004142"} xref: NCIT:C2956 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:0004142"} xref: OMIM:114500 is_a: MONDO:0021118 {source="MONDO:Redundant", source="NCIT:C2956"} ! intestinal neoplasm is_a: MONDO:0024634 ! large intestine disorder property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0009404 property_value: exactMatch http://identifiers.org/mesh/D015179 property_value: exactMatch http://identifiers.org/mesh/D015179 property_value: exactMatch NCIT:C2956 property_value: exactMatch NCIT:C2956 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/neoplasm.yaml [Term] id: EFO:0004143 name: carpal tunnel syndrome def: "Carpal Tunnel Syndrome (CTS) is an entrapment idiopathic median neuropathy, causing paresthesia, pain, and other symptoms in the distribution of the median nerve due to its compression at the wrist in the carpal tunnel." [] def: "Entrapment of the median nerve in the wrist that is characterized by numbness, tingling and painful movement." [NCIT:P378] synonym: "amyotrophy, thenar, of carpal origin" RELATED [OMIM:115430] synonym: "carpal tunnel median neuropathy" EXACT [DOID:12169] synonym: "carpal tunnel syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "carpal tunnel syndrome" EXACT [DOID:12169, ICD9CM:354.0, MONDO:Lexical, OMIM:115430] synonym: "CTS" RELATED ABBREVIATION [OMIM:115430] synonym: "CTS - carpal tunnel syndrome" EXACT [DOID:12169] synonym: "median nerve entrapment" EXACT [DOID:12169] xref: DOID:12169 {source="MONDO:equivalentTo", source="EFO:0004143"} xref: ICD10:S54 xref: ICD10:S64 xref: ICD10CM:G56.0 {source="MONDO:equivalentTo", source="DOID:12169"} xref: ICD9:354.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0004143", source="DOID:12169"} xref: MedDRA:10007697 xref: MESH:D002349 {source="MONDO:equivalentTo", source="EFO:0004143", source="DOID:12169"} xref: MeSH:D002349 xref: MONDO:0007275 xref: NCIT:C34450 {source="MONDO:equivalentTo", source="EFO:0004143", source="DOID:12169"} xref: NCIt:C34450 xref: OMIM:115430 xref: OMIM:613353 xref: OMIMPS:115430 {source="MONDO:equivalentTo"} xref: Orphanet:50838 {source="MONDO:equivalentObsolete"} xref: SCTID:57406009 {source="MONDO:equivalentTo", source="EFO:0004143", source="DOID:12169"} xref: SNOMEDCT:57406009 xref: UMLS:C0007286 {source="OMIM:115430", source="NCIT:C34450", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:12169"} is_a: EFO:0009487 {source="DOID:12169", source="MESH:D002349"} ! nerve compression syndrome is_a: MONDO:0020127 ! hereditary peripheral neuropathy property_value: definition:citation "web: http://en.wikipedia.org/wiki/Carpal_tunnel_syndrome" xsd:string property_value: exactMatch DOID:12169 property_value: exactMatch http://identifiers.org/mesh/D002349 property_value: exactMatch http://identifiers.org/snomedct/57406009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007286 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G56.0 property_value: exactMatch https://omim.org/phenotypicSeries/PS115430 property_value: exactMatch NCIT:C34450 property_value: excluded_subClassOf MONDO:0002254 {source="NCIT:C34450"} property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004144 name: acatalasia def: "A congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide." [Orphanet:926] def: "Acatalasia is an autosomal recessive peroxisomal disorder caused by a complete lack of catalase. The disorder is relatively benign, although it causes an increased incidence of periodontal infections, and can under rare circumstances lead to gangrene." [] subset: ordo_disease {source="Orphanet:926"} synonym: "acatalasemia" EXACT [OMIM:614097] synonym: "acatalasia" EXACT [OMIM:614097] synonym: "acatalasia" EXACT [] {comment="preferred label from MONDO"} synonym: "catalase deficiency" EXACT [OMIM:614097, Orphanet:926] synonym: "deficiency of catalase" EXACT [DOID:2582] xref: DOID:2582 {source="EFO:0004144", source="MONDO:equivalentTo"} xref: HGNC:1516 {source="EFO:0004144"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D020642 {source="DOID:2582", source="EFO:0004144", source="MONDO:equivalentTo"} xref: MeSH:D020642 xref: MONDO:0013571 xref: NCIT:C84526 {source="DOID:2582", source="MONDO:equivalentTo"} xref: OMIM:115500 xref: OMIM:614097 {source="DOID:2582", source="MONDO:equivalentTo", source="Orphanet:926", source="Orphanet:926/e"} xref: Orphanet:926 {source="MONDO:equivalentTo", source="OMIM:614097"} xref: SCTID:124202004 {source="MONDO:equivalentTo"} xref: UMLS:C0268419 {source="DOID:2582", source="NCIT:C84526", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:926", source="OMIM:614097", source="Orphanet:926/e"} is_a: MONDO:0100306 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of defective peroxisome oxidative status property_value: definition:citation web:http://en.wikipedia.org/wiki/Acatalasia xsd:string property_value: exactMatch DOID:2582 property_value: exactMatch http://identifiers.org/mesh/D020642 property_value: exactMatch http://identifiers.org/snomedct/124202004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268419 property_value: exactMatch https://omim.org/entry/614097 property_value: exactMatch NCIT:C84526 property_value: exactMatch Orphanet:926 property_value: excluded_subClassOf MONDO:0017753 {source="Orphanet:926"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: EFO:0004145 name: myopathy def: "A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness." [Wikipedia:Myopathy] def: "A muscular disease in which the muscle fibers do not function resulting in muscular weakness." [] comment: Editor note: TODO check this, relationship to myotonic disorder/syndrome, also check HP definition synonym: "myopathy" EXACT [] {comment="preferred label from MONDO"} xref: DOID:423 {source="EFO:0004145", source="MONDO:equivalentTo"} xref: ICD9:359.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:359.9 {source="DOID:423", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:728.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10028641 xref: MedDRA:10028649 xref: MONDO:0005336 xref: NCIT:C101216 {source="EFO:0004145", source="DOID:423", source="MONDO:equivalentTo"} xref: NCIt:C101216 xref: OMIM:181430 xref: OMIM:300695 xref: SCTID:129565002 {source="DOID:423", source="MONDO:equivalentTo"} xref: SCTID:75047002 {source="DOID:423", source="MONDO:relatedTo"} xref: UMLS:C0026848 {source="DOID:423", source="MONDO:equivalentTo", source="NCIT:C101216"} is_a: EFO:0002970 ! muscular disease is_a: MONDO:0020120 {source="DOID:423", source="MONDO:Entailed", source="MONDO:Redundant"} ! skeletal muscle disorder property_value: exactMatch DOID:423 property_value: exactMatch http://identifiers.org/snomedct/129565002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026848 property_value: exactMatch NCIT:C101216 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004146 name: obsolete_central core myopathy def: "Central core myopathy, is an autosomal dominant congenital myopathy (inborn muscle disorder) which presents commonly with hypotonia (decreased muscle tone) at birth, mild delay in child development (highly variable between cases), weakness of the facial muscles, and skeletal malformations such as scoliosis and hip dislocation." [] synonym: "central core disease" EXACT [] xref: DOID:3529 xref: MeSH:D020512 xref: OMIM:117000 property_value: definition:citation "derived from wikipedia http://en.wikipedia.org/wiki/Central_core_disease" xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.33" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate of class http://www.orpha.net/ORDO/Orphanet_597" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_597 [Term] id: EFO:0004147 name: obsolete_Sotos syndrome def: "A genetic disorder that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life." [] xref: DOID:14748 xref: MeSH:D058495 xref: OMIM:117550 xref: OMIM:601451 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_821' instead.\nNew Label : Sotos syndrome" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_821 [Term] id: EFO:0004148 name: obsolete_Charcot-Marie-Tooth disease xref: DOID:10595 xref: MeSH:D002607 xref: MeSH:D015417 xref: OMIM:118200 xref: OMIM:118220 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_166' instead.\nNew Label : Charcot-Marie-Tooth disease" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_166 [Term] id: EFO:0004149 name: neuropathy def: "A disorder affecting the nervous system that manifests with pain, tingling, numbness, and/or muscle weakness." [] xref: DOID:870 xref: ICD10:G60 xref: MedDRA:10029328 xref: MedDRA:10062940 xref: NCIt:C4731 xref: OMIM:618184 xref: OMIM:618186 xref: SNOMEDCT:386033004 is_a: EFO:0000618 ! nervous system disease property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004150 name: obsolete_cherubism xref: DOID:1856 xref: MeSH:D002636 xref: OMIM:118400 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_184' instead.\nNew Label : Cherubism" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_184 [Term] id: EFO:0004151 name: obsolete_Alagille syndrome synonym: "Alagille-Watson syndrome" EXACT [] xref: DOID:9245 xref: MeSH:D016738 xref: OMIM:118450 xref: OMIM:610205 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_52' instead.\nNew Label : Alagille syndrome" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_52 [Term] id: EFO:0004152 name: chorea def: "A neurological condition affecting the involuntary movements. It is characterized by brief, non-repetitive irregular muscle contractions. It is seen in patients with Huntington's disease." [NCIT:C84633] def: "Chorea is a movement disease characterized by brief, quasi-purposeful, irregular contractions that are not repetitive or rhythmic, but appear to flow from one muscle to the next." [] subset: ordo_disease {source="Orphanet:1429"} synonym: "Bch" RELATED [OMIM:118700] synonym: "benign familial chorea" EXACT [Orphanet:1429] synonym: "BHC" NARROW ABBREVIATION [OMIM:118700] synonym: "chorea, benign hereditary" NARROW [OMIM:118700] synonym: "choreatic disease" EXACT [] {comment="preferred label from MONDO"} synonym: "choreia" EXACT [] synonym: "hereditary benign chorea" NARROW [Orphanet:1429] synonym: "hereditary chorea" RELATED [DOID:12859] synonym: "hereditary progressive chorea without dementia" NARROW [OMIM:118700] xref: DOID:12859 {source="MONDO:equivalentTo"} xref: HP:0002072 {source="MONDO:otherHierarchy"} xref: ICD9:333.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10008748 xref: MESH:D002819 {source="MONDO:equivalentTo", source="EFO:0004152"} xref: MeSH:D002819 xref: MONDO:0001595 xref: NCIT:C84633 {source="MONDO:equivalentTo", source="EFO:0004152"} xref: NCIt:C84633 xref: OMIM:118700 xref: Orphanet:1429 {source="MONDO:equivalentTo", source="DOID:12859", source="OMIM:118700"} xref: SCTID:230298007 {source="MONDO:equivalentTo"} xref: SCTID:230306001 {source="MONDO:equivalentTo"} xref: SNOMEDCT:271700006 is_a: EFO:0004280 {source="DOID:12859", source="HP:0002072", source="MESH:D002819/inferred", source="MONDO:Redundant", source="NCIT:C84633", source="Orphanet:1429/inferred"} ! movement disorder relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch DOID:12859 property_value: exactMatch http://identifiers.org/mesh/D002819 property_value: exactMatch http://identifiers.org/snomedct/230298007 property_value: exactMatch http://identifiers.org/snomedct/230306001 property_value: exactMatch NCIT:C84633 property_value: exactMatch Orphanet:1429 property_value: excluded_subClassOf MONDO:0015548 {source="Orphanet:1429"} [Term] id: EFO:0004153 name: obsolete_cleidocranial dysplasia def: "An osteochondrodysplasia that is caused by mutations in the RUNX2 gene which results in underveloped or absent clavicle along with delayed closing of fontanels in the skull." [] xref: DOID:13994 xref: MeSH:D002973 xref: OMIM:119600 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_1452' instead.\nNew Label : Cleidocranial dysplasia" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_1452 [Term] id: EFO:0004154 name: Sequence Read Format (SRF) def: "Sequence Read file forma is a generic format for DNA sequence data capable of storing data generated by any DNA sequencing technology." [] synonym: "srf" EXACT [] is_a: IAO:0000098 ! data format specification [Term] id: EFO:0004155 name: FASTQ format def: "FASTQ format is a text-based format for storing both a biological sequence (usually nucleotide sequence) and its corresponding quality scores." [] is_a: IAO:0000098 ! data format specification [Term] id: EFO:0004156 name: Standard Flowgram Format (SFF) def: "Standard flowgram format (SFF) is a binary file format used to encode results of pyrosequencing from the 454 Life Sciences platform for high-throughput sequencing." [] is_a: IAO:0000098 ! data format specification [Term] id: EFO:0004157 name: BAM format def: "BAM is the compressed binary version of the Sequence Alignment/Map (SAM) format" [] is_a: IAO:0000098 ! data format specification [Term] id: EFO:0004158 name: random RNA-Seq across whole transcriptome is_a: EFO:0002770 ! transcription profiling by high throughput sequencing property_value: ArrayExpress:label "Random RNA-Seq" xsd:string property_value: SRA:label "RNA-SEQ (Random sequencing of whole transcriptome)" xsd:string [Term] id: EFO:0004159 name: SOLiD native csfasta format is_a: IAO:0000098 ! data format specification [Term] id: EFO:0004160 name: whole chromosome random sequencing is_a: EFO:0001456 ! DNA assay is_a: EFO:0002697 ! assay by high throughput sequencer property_value: ArrayExpress:label "Whole chromosome random sequencing" xsd:string property_value: SRA:label "WCS (Random sequencing of a whole chromosome or other replicon isolated from a genome)" xsd:string [Term] id: EFO:0004161 name: finishing sequencing assay def: "A sequencing assay which has been used to finish the sequence of an organism or sample, i.e. to finish (close) gaps in existing coverage" [] is_a: EFO:0003740 ! assay by sequencer relationship: RO:0000057 EFO:0003739 ! has_participant sequencer property_value: ArrayExpress:label "Finishing sequencing assay" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: SRA:label "FINISHING (Sequencing intended to finish (close) gaps in existing coverage)" xsd:string [Term] id: EFO:0004162 name: CTS (Concatenated Tag Sequencing) is_a: EFO:0003740 ! assay by sequencer relationship: RO:0000057 EFO:0003739 ! has_participant sequencer property_value: SRA:label "CTS (Concatenated Tag Sequencing)" xsd:string [Term] id: EFO:0004163 name: SOLiD native qual format is_a: IAO:0000098 ! data format specification [Term] id: EFO:0004164 name: Illumina native qseq format is_a: IAO:0000098 ! data format specification [Term] id: EFO:0004165 name: Illumina native scarf format is_a: IAO:0000098 ! data format specification [Term] id: EFO:0004166 name: Illumina native fastq format is_a: IAO:0000098 ! data format specification [Term] id: EFO:0004167 name: RAPD def: "RAPD is a type of PCR reaction in which the segments of DNA are amplified at random using randomly generated primers." [] synonym: "random amplification of polymorphic DNA" EXACT [] synonym: "random PCR" EXACT [] is_a: OBI:0000415 ! polymerase chain reaction relationship: part_of EFO:0004184 ! nucleic acid library construction protocol property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004168 name: hypomethylated partial restriction digest synonym: "HMPR" EXACT [] is_a: EFO:0002694 ! experimental process relationship: part_of EFO:0004184 ! nucleic acid library construction protocol [Term] id: EFO:0004169 name: methyl filtration def: "Methyl-filtration is a cloning strategy that enriches for the coding regions of the genome" [] synonym: "MF" EXACT [] is_a: EFO:0002694 ! experimental process relationship: part_of EFO:0004184 ! nucleic acid library construction protocol property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004170 name: nucleic acid sequencing protocol def: "A protocol describing the processes performed and equipment used to determine the order of nucleotide bases in a nucleic acid sample" [] is_a: OBI:0000272 ! protocol property_value: IAO:0000117 "Anna Farne" xsd:string [Term] id: EFO:0004171 name: cot filtration for single or low copy genomic DNA def: "A type of cot filtration in which single/low copy sequences and the repetitive sequences of a genome to be studied independently of each other." [] is_a: EFO:0004170 ! nucleic acid sequencing protocol relationship: OBI:0000299 CHEBI:16991 ! has_output deoxyribonucleic acid property_value: IAO:0000117 "James Malone" xsd:string property_value: SRA:label "CF-S (Cot-filtered single/low-copy genomic DNA)" xsd:string [Term] id: EFO:0004172 name: cot filtration for moderately repetitive genomic DNA def: "A type of cot filtration in which moderately repetitive sequences and highly repetitive sequences of a genome can be separated to be studied independently of each other." [] is_a: EFO:0004170 ! nucleic acid sequencing protocol property_value: SRA:label "CF-M (Cot-filtered moderately repetitive genomic DNA)" xsd:string [Term] id: EFO:0004173 name: cot filtration for highly repetitive genomic DNA is_a: EFO:0004170 ! nucleic acid sequencing protocol property_value: SRA:label "CF-H (Cot-filtered highly repetitive genomic DNA)" xsd:string [Term] id: EFO:0004174 name: cot filtration for theoretical single copy genomic DNA is_a: EFO:0004170 ! nucleic acid sequencing protocol property_value: SRA:label "CF-T (Cot-filtered theoretical single-copy genomic DNA)" xsd:string [Term] id: EFO:0004175 name: Methylation Spanning Linker Library (MSLL) processing def: "Methylation-spanning linker library (MSLL) processing uses clones which span large methylated DNA blocks and thereby link unmethylated genic regions." [] is_a: EFO:0002694 ! experimental process relationship: part_of EFO:0004184 ! nucleic acid library construction protocol property_value: definition:citation "Yuan et al (2002) Methylation-Spanning Linker Libraries Link Gene-Rich Regions and Identify Epigenetic Boundaries in Zea mays. Genome Res. 2002. 12: 1345-1349" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: SRA:label "MSLL (Methylation Spanning Linker Library)" xsd:string [Term] id: EFO:0004176 name: ChIP def: "Chromatin Immunoprecipitation (ChIP) is an experimental process used to investigate the interaction between proteins and DNA in the cell via the immunoprecipitation of transcriptionally active chromatin from mammalian cells." [] synonym: "Chromatin Immunoprecipitation" EXACT [] xref: MeSH:D047369 xref: NCIt:C106048 is_a: OBI:0001700 ! immunoprecipitation assay relationship: part_of EFO:0004184 ! nucleic acid library construction protocol property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004177 name: Micrococcal Nuclease digestion def: "Micrococcal Nuclease digestion is the process of using an endo-exonuclease in order to digest single-stranded and double-stranded nucleic acids and RNA." [] synonym: "MNAse" EXACT [] is_a: EFO:0004186 ! Deoxyribonuclease digestion property_value: IAO:0000117 "James Malone" xsd:string property_value: SRA:label "MNase (Micrococcal Nuclease (MNase) digestion)" xsd:string [Term] id: EFO:0004178 name: reduced representation preparation def: "An experimental process for producing a reduced target genome often generated by restriction fragment size selection, containing a manageable number of loci to facilitate re-sampling." [] is_a: EFO:0002694 ! experimental process relationship: part_of EFO:0004184 ! nucleic acid library construction protocol property_value: definition:citation "Modified from SRA" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004179 name: restriction digest def: "A restriction digest is an experimental process used to prepare DNA for analysis or other processing by the use of restriction enzymes to cleave DNA at desired sites for extraction." [] is_a: EFO:0002694 ! experimental process relationship: part_of EFO:0004184 ! nucleic acid library construction protocol property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004180 name: DNA selection through 5-methylcytidine antibody def: "An experimental process for selecting DNA which uses 5-methylcytidine antibody." [] is_a: EFO:0002694 ! experimental process relationship: part_of EFO:0004184 ! nucleic acid library construction protocol property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004181 name: cap analysis gene expression def: "Cap analysis gene expression (CAGE) is an experimental process which allows high-throughput identification of sequence tags corresponding to 5′ ends of mRNA at the cap sites and the identification of the transcriptional starting point (TSP)." [] synonym: "CAGE" EXACT [] synonym: "CAGE (cap analysis gene expression)" EXACT [] xref: SNOMEDCT:14108005 is_a: EFO:0002694 ! experimental process relationship: part_of EFO:0004184 ! nucleic acid library construction protocol property_value: definition:citation http://www.pnas.org/content/100/26/15776 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004182 name: Rapid Amplification of cDNA Ends def: "Rapid Amplification of cDNA Ends (RACE) is an experimental process used to obtain the full length sequence of an RNA transcript found within a cell. RACE produces a cDNA copy of the RNA through reverse transcription which is amplified and sequenced." [] synonym: "RACE" EXACT [] xref: NCIt:C17049 xref: SNOMEDCT:103579009 is_a: EFO:0009107 ! nucleic acid amplification relationship: part_of EFO:0004184 ! nucleic acid library construction protocol property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004183 name: size fractionation def: "Size fractionation is a process of selecting targets based on their size." [] is_a: EFO:0002694 ! experimental process relationship: part_of EFO:0004184 ! nucleic acid library construction protocol property_value: IAO:0000117 "James Malone" xsd:string property_value: SRA:label "size fractionation (Physical selection of size appropriate targets)" xsd:string [Term] id: EFO:0004184 name: nucleic acid library construction protocol def: "A protocol describing the processes performed and equipment used to prepare nucleic acid sequencing library." [] synonym: "nucleic acid library preparation protocol" EXACT [] is_a: OBI:0000272 ! protocol property_value: IAO:0000117 "Natalja Kurbatova" xsd:string [Term] id: EFO:0004185 name: enrichment of methylated DNA def: "The isolation and enrichment of methylated DNA by using methyl CpG binding proteins, MBD2b protein in particular.\n\nMethylation of cytosines located 5' to guanosine is known to have a profound effect on the expression of many eukaryotic genes. In normal cells methylation occurs predominantly in CG-poor regions, while CG-rich areas, called CpG-islands remain unmethylated. The exceptions are the extensive methylation of CpG islands associated with transcriptional inactivation of regulatory regions of imprinted genes and genes on the inactive X-chromosome of females. Aberrant methylation of normally unmethylated CpG islands has been documented as a relatively frequent event in immortalized and transformed cells and has been associated with transcriptional inactivation of defined tumor suppressor genes in human cancers.\n\nTo evalute the methylation status of either a specific locus or an entire genome, the isolation and enrichment of methylated DNA can be a useful first step. A high-affinity GST-MBD protein pre-bound to a magnetic bead is used to enable this enrichement (Fraga M.F., et al. (2003). Nuc. Acids Res, 31, 1765–1774)." [] synonym: "Enrichment by methyl-CpG binding domain" EXACT [] synonym: "MBD2 protein methyl-CpG binding domain" EXACT [] is_a: EFO:0009090 ! enrichment process relationship: part_of EFO:0004184 ! nucleic acid library construction protocol property_value: definition:citation http://www.millipore.com/catalogue/item/17-10035&cid=BIOS-A-EPIG-10013-1102-RC xsd:string property_value: IAO:0000117 "Natalja Kurbatova" xsd:string [Term] id: EFO:0004186 name: Deoxyribonuclease digestion def: "Deoxyribonuclease digestion is the process of using an exodeoxyribonuclease or an endodeoxyribonuclease in order to digest single-stranded and double-stranded DNA." [] synonym: "DNAse" EXACT [] is_a: EFO:0002694 ! experimental process relationship: part_of EFO:0004184 ! nucleic acid library construction protocol property_value: IAO:0000117 "Natalja Kurbatova" xsd:string property_value: SRA:label "DNAse (Deoxyribonuclease (MNase) digestion)" xsd:string [Term] id: EFO:0004187 name: cDNA library construction def: "cDNA library is created from a mature mRNAs from eukaryotic cells with the use of an enzyme known as reverse transcriptase." [] synonym: "cDNA" EXACT [] synonym: "cDNA library construction" EXACT [] synonym: "complementary DNA" EXACT [] xref: NCIt:C18685 xref: SNOMEDCT:70016006 is_a: OBI:0000711 ! library preparation relationship: part_of EFO:0004184 ! nucleic acid library construction protocol property_value: definition:citation http://dwb.unl.edu/Teacher/NSF/C08/C08Links/www.dur.ac.uk/~dbl0www/Staff/Croy/cDNAfigs.htm xsd:string property_value: IAO:0000117 "Natalja Kurbatova" xsd:string [Term] id: EFO:0004188 name: hybrid selection of targets def: "The method of preparation of sequencing templates that are enriched for targeted regions of the genome by hybridization in array or solution." [] synonym: "hybrid selection" EXACT [] is_a: EFO:0002694 ! experimental process relationship: part_of EFO:0004184 ! nucleic acid library construction protocol property_value: definition:citation http://www.genomics.agilent.com/generica.aspx?pagetype=science&subpagetype=review&pageid=25&reviewid=46 xsd:string property_value: IAO:0000117 "Natalja Kurbatova" xsd:string [Term] id: EFO:0004189 name: DNA shearing def: "DNA shearing is an experimental process used to prepare DNA for analysis or other processing by the use of mechanical instruments to randomly cleave DNA. DNA is sheared to the desired fragment range.\n\nFor instance, physical shearing can be done by probe sonication and nebulization." [] synonym: "RANDOM" EXACT [] synonym: "Random selection by shearing" EXACT [] xref: NCIt:C60702 xref: SNOMEDCT:255226008 is_a: EFO:0002694 ! experimental process relationship: part_of EFO:0004184 ! nucleic acid library construction protocol property_value: definition:citation http://www.epigentek.com/catalog/episonic-multi-functional-bioprocessor-1000-p-1872.html?currency=gb&height=180&width=500&border=1&modal=true&random=1322838086494 xsd:string property_value: IAO:0000117 "Natalja Kurbatova" xsd:string [Term] id: EFO:0004190 name: open-angle glaucoma def: "Chronic outflow obstruction of the eye's drainage canals that can lead to increased internal eye pressure and optic nerve damage." [NCIT:P378] def: "Glaucoma in which the angle of the anterior chamber is open and the trabecular meshwork does not encroach on the base of the iris." [] synonym: "glaucoma (primary open-angle)" EXACT [] synonym: "glaucoma simplex" EXACT [DOID:1067] synonym: "glaucoma, open-angle" EXACT [] synonym: "glaucoma, primary open angle" EXACT [MONDO:Lexical, OMIM:137760] synonym: "open angle glaucoma" EXACT [DOID:1067, NCIT:C34641] synonym: "open-angle glaucoma" EXACT [] {comment="preferred label from MONDO"} synonym: "pigmentary glaucoma" EXACT [DOID:1067, ICD9CM:365.13] synonym: "POAG" EXACT ABBREVIATION [MONDO:Lexical, OMIM:137760] synonym: "primary open angle glaucoma" EXACT [OMIM:137760] synonym: "wide-angle glaucoma" EXACT [DOID:1067] xref: DOID:1067 {source="EFO:0004190", source="MONDO:equivalentTo"} xref: ICD9:365.1 {source="DOID:1067", source="EFO:0004190"} xref: ICD9:365.10 {source="DOID:1067", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:365.13 {source="DOID:1067", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10030856 xref: MedDRA:10030857 xref: MESH:D005902 {source="DOID:1067", source="EFO:0004190", source="MONDO:equivalentTo"} xref: MeSH:D005902 xref: MONDO:0005338 xref: NCIT:C34641 {source="DOID:1067", source="MONDO:equivalentTo"} xref: OMIM:137760 xref: OMIM:177700 xref: OMIM:603383 xref: OMIM:606657 xref: OMIM:609887 xref: OMIM:613100 xref: SCTID:46168003 {source="DOID:1067", source="MONDO:equivalentTo"} xref: SCTID:84494001 {source="DOID:1067", source="EFO:0004190", source="MONDO:equivalentTo"} xref: SNOMEDCT:84494001 xref: UMLS:C0017612 {source="DOID:1067", source="MONDO:equivalentTo", source="NCIT:C34641"} is_a: MONDO:0005041 {source="DOID:1067", source="EFO:0004190", source="MESH:D005902", source="NCIT:C34641"} ! glaucoma property_value: exactMatch DOID:1067 property_value: exactMatch http://identifiers.org/mesh/D005902 property_value: exactMatch http://identifiers.org/snomedct/46168003 property_value: exactMatch http://identifiers.org/snomedct/84494001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017612 property_value: exactMatch NCIT:C34641 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2507 xsd:anyURI [Term] id: EFO:0004191 name: androgenetic alopecia synonym: "alopecia androgenetica, male pattern baldness" EXACT [DOID:0050801] synonym: "alopecia, androgenetic" EXACT [] synonym: "alopecia, androgenic" EXACT [] synonym: "alopecia, male pattern" EXACT [] synonym: "androgenetic alopecia" EXACT [] {comment="preferred label from MONDO"} synonym: "androgenetic alopecia" EXACT [DOID:0050801] synonym: "androgenic alopecia" EXACT [] synonym: "androgenic alopecia" RELATED [DOID:0050801] synonym: "male pattern baldness" EXACT [] synonym: "male pattern baldness" NARROW [https://ghr.nlm.nih.gov/condition/androgenetic-alopecia] synonym: "male-pattern baldness" EXACT [] xref: DOID:0050801 {source="MONDO:equivalentTo", source="EFO:0004191"} xref: ICD10:L64 xref: ICD9:704.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10068168 xref: MONDO:0005339 xref: SCTID:87872006 {source="MONDO:equivalentTo"} is_a: MONDO:0021034 ! hereditary alopecia is_a: MONDO:0021208 {source="MONDO:Redundant"} ! endocrine alopecia is_a: Orphanet:68346 ! Rare genetic skin disease property_value: exactMatch DOID:0050801 property_value: exactMatch http://identifiers.org/snomedct/87872006 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004192 name: alopecia areata def: "A microscopically inflammatory, usually reversible, patchy hair loss occurring in sharply defined areas and usually involving the beard or scalp. (Dorland, 27th ed)." [] def: "Loss of scalp and body hair involving microscopically inflammatory patchy areas." [MESH:D000506] synonym: "alopecia areata" EXACT [MESH:D000506] synonym: "alopecia areata" EXACT [] {comment="preferred label from MONDO"} synonym: "alopecia circumscripta" RELATED [MESH:D000506] synonym: "circumscribed alopecia" EXACT [DOID:986] synonym: "patchy loss of hair" RELATED [] xref: DOID:986 {source="MONDO:equivalentTo", source="EFO:0004192"} xref: ICD10:L63 xref: ICD10CM:L63 {source="DOID:986", source="MONDO:equivalentTo"} xref: ICD9:704.01 {source="DOID:986", source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0004192"} xref: MedDRA:10001761 xref: MESH:D000506 {source="DOID:986", source="MONDO:equivalentTo", source="EFO:0004192"} xref: MeSH:D000506 xref: MONDO:0005340 xref: SCTID:68225006 {source="DOID:986", source="MONDO:equivalentTo", source="EFO:0004192"} xref: SNOMEDCT:68225006 xref: UMLS:C0002171 {source="DOID:986", source="MONDO:equivalentTo"} is_a: MONDO:0004907 {source="EFO:0004192", source="MESH:D000506"} ! alopecia is_a: MONDO:0021034 ! hereditary alopecia is_a: Orphanet:68346 ! Rare genetic skin disease property_value: exactMatch DOID:986 property_value: exactMatch http://identifiers.org/mesh/D000506 property_value: exactMatch http://identifiers.org/snomedct/68225006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002171 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L63 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004193 name: basal cell carcinoma def: "A carcinoma involving the basal cells." [NCIT:C156767] synonym: "basal cell cancer" EXACT [] synonym: "basal cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "basal cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "epithelioma, basal cell" EXACT [MESH:D002280] synonym: "malignant basal cell neoplasm" EXACT [NCIT:C7586] xref: MESH:D002280 {source="MONDO:equivalentTo"} xref: MONDO:0020804 xref: NCIT:C156767 {source="MONDO:equivalentTo"} xref: NCIT:C7586 {source="MONDO:equivalentTo"} xref: OMIM:605462 xref: OMIM:614740 is_a: EFO:0000313 {source="MESH:D002280", source="NCIT:C156767"} ! carcinoma is_a: EFO:0010176 ! keratinocyte carcinoma is_a: EFO:1001763 {source="MESH:D002280", source="NCIT:C7586"} ! basal cell neoplasm property_value: exactMatch http://identifiers.org/mesh/D002280 property_value: exactMatch http://identifiers.org/mesh/D002280 property_value: exactMatch NCIT:C156767 property_value: exactMatch NCIT:C156767 property_value: exactMatch NCIT:C7586 property_value: exactMatch NCIT:C7586 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004194 name: IGA glomerulonephritis def: "A chronic form of glomerulonephritis characterized by deposits of predominantly immunoglobulin A in the mesangial area (glomerular mesangium). Deposits of complement C3 and immunoglobulin G are also often found. Clinical features may progress from asymptomatic hematuria to end-stage kidney disease." [] def: "Inflammation of a specific segment of glomeruli within the kidney." [NCIT:P378] synonym: "Berger Disease" EXACT [] synonym: "Berger's Disease" EXACT [] synonym: "berger's disease" EXACT [NCIT:C34643] synonym: "berger's IgA or IgG nephropathy" EXACT [DOID:2986] synonym: "focal glomerulonephritis" EXACT [DOID:2986, NCIT:C35280] synonym: "Glomerulonephritis, IGA" EXACT [] synonym: "IgA glomerulonephritis" EXACT [] {comment="preferred label from MONDO"} synonym: "IgA glomerulonephritis" EXACT [DOID:2986] synonym: "IGA Nephropathy" EXACT [] synonym: "IgA nephropathy" EXACT [DOID:2986, Orphanet:34145] synonym: "IgAN" EXACT [] synonym: "Immunoglobulin A Nephropathy" EXACT [] synonym: "Nephropathy, IGA" EXACT [] synonym: "primary IgA nephropathy" EXACT [DOID:2986] synonym: "segmental glomerulonephritis" EXACT [DOID:2986] xref: DOID:2986 {source="MONDO:equivalentTo", source="EFO:0004194"} xref: ICD9:583.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D005922 {source="MONDO:equivalentTo", source="DOID:2986", source="EFO:0004194"} xref: MeSH:D005922 xref: MONDO:0005342 xref: NCIT:C34643 {source="MONDO:equivalentTo", source="DOID:2986", source="EFO:0004194"} xref: NCIt:C34643 xref: OMIM:161950 xref: OMIM:616818 xref: OMIMPS:161950 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:34145 {source="MONDO:equivalentObsolete"} xref: SCTID:68779003 {source="MONDO:equivalentTo", source="DOID:2986"} xref: SNOMEDCT:236407003 xref: UMLS:C0017661 {source="MONDO:equivalentTo", source="DOID:2986", source="NCIT:C34643"} is_a: EFO:0004128 ! hereditary nephritis is_a: MONDO:0002462 {source="DOID:2986", source="MESH:D005922", source="NCIT:C34643"} ! glomerulonephritis property_value: exactMatch DOID:2986 property_value: exactMatch http://identifiers.org/mesh/D005922 property_value: exactMatch http://identifiers.org/snomedct/68779003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017661 property_value: exactMatch https://omim.org/phenotypicSeries/PS161950 property_value: exactMatch NCIT:C34643 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004195 name: LDL cholesterol def: "Cholesterol which is contained in or bound to low density lipoproteins (LDL), including CHOLESTEROL ESTERS and free cholesterol." [] synonym: "cholesterol, LDL" EXACT [] synonym: "High-density lipoprotein cholesterol" EXACT [] synonym: "High-density lipoproteins" EXACT [] synonym: "LDL lipoproteins" EXACT [] synonym: "lipoproteins, LDL" EXACT [] xref: MeSH:D008077 xref: MeSH:D008078 xref: SNOMEDCT:102739008 is_a: CHEBI:16113 ! cholesterol property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004196 name: viral human hepatitis infection def: "An acute or chronic inflammation of the liver parenchyma caused by viruses. Representative examples include hepatitis A, B, and C, cytomegalovirus hepatitis, and herpes simplex hepatitis." [NCIT:P378] def: "INFLAMMATION of the LIVER in humans due to infection by VIRUSES. There are several significant types of human viral hepatitis with infection caused by enteric-transmission ( HEPATITIS A; HEPATITIS E) or blood transfusion ( HEPATITIS B; HEPATITIS C; and HEPATITIS D)." [] comment: Editor note: consider adding term for viral synonym: "Hepatitis viral" EXACT [NCIT:C35124] synonym: "hepatitis, viral, human" EXACT [] synonym: "human viral hepatitis" EXACT [DOID:1884] synonym: "unspecified viral hepatitis with hepatic coma" NARROW [DOID:1884, ICD9CM:070.6] synonym: "viral Hepatitis" EXACT [NCIT:C35124] synonym: "viral hepatitis" EXACT [] {comment="preferred label from MONDO"} synonym: "viral hepatitis with hepatic coma" NARROW [DOID:1884] synonym: "viral human hepatitis" EXACT [MONDO:0005343] synonym: "Viruses caused hepatitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Viruses hepatitis" EXACT [] xref: DOID:1884 {source="MONDO:equivalentTo", source="EFO:0007540"} xref: ICD10CM:B15-B19 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:573.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10019799 xref: MedDRA:10047446 xref: MESH:D006525 {source="MONDO:equivalentTo", source="EFO:0004196"} xref: MeSH:D006525 xref: MONDO:0006011 xref: NCIT:C35124 {source="MONDO:equivalentTo"} xref: SCTID:3738000 {source="MONDO:equivalentTo"} xref: UMLS:C0042721 {source="MONDO:equivalentTo", source="NCIT:C35124"} is_a: EFO:0001421 ! liver disease is_a: EFO:0009903 ! inflammatory disease is_a: MONDO:0043424 ! digestive system infectious disorder is_a: MONDO:0100329 ! primary viral infectious disease property_value: exactMatch DOID:1884 property_value: exactMatch http://identifiers.org/mesh/D006525 property_value: exactMatch http://identifiers.org/snomedct/3738000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042721 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B15-B19 property_value: exactMatch NCIT:C35124 property_value: excluded_synonym "animal viral hepatitis" xsd:string {source="DOID:1884"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004197 name: hepatitis B virus infection def: "A viral infection caused by the hepatitis B virus." [NCIT:C3097] def: "INFLAMMATION of the LIVER in humans caused by a member of the ORTHOHEPADNAVIRUS genus, HEPATITIS B VIRUS. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact." [] synonym: "chronic hepatitis B" NARROW [DOID:2043] synonym: "HBV infection" EXACT [] synonym: "Hepatitis B" EXACT [NCIT:C3097] synonym: "Hepatitis B infection" EXACT [NCIT:C3097] synonym: "hepatitis B infection" EXACT [DOID:2043] synonym: "Hepatitis B virus caused hepatitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Hepatitis B virus hepatitis" EXACT [] synonym: "hepatitis B virus infection" EXACT [] {comment="preferred label from MONDO"} synonym: "hepatitis B, chronic" EXACT [] synonym: "hepatitis type B" EXACT [DOID:2043, MONDORULE:1] synonym: "serum hepatitis" RELATED [DOID:2043] synonym: "viral Hepatitis B" EXACT [NCIT:C3097] synonym: "viral hepatitis B" EXACT [] xref: DOID:2043 {source="MONDO:equivalentTo"} xref: ICD10:B16 xref: ICD9:070.30 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D006509 {source="DOID:2043", source="MONDO:equivalentTo"} xref: MeSH:D019694 xref: MONDO:0005344 xref: NCIT:C3097 {source="DOID:2043", source="MONDO:equivalentTo", source="EFO:0004197"} xref: NCIt:C3097 xref: SCTID:66071002 {source="DOID:2043", source="MONDO:equivalentTo"} xref: UMLS:C0019163 {source="DOID:2043", source="NCIT:C3097", source="MONDO:equivalentTo"} is_a: EFO:0004196 {source="EFO:0004197", source="MESH:D006509", source="MONDO:Redundant", source="NCIT:C3097/inferred"} ! viral human hepatitis infection is_a: EFO:0007301 ! Hepadnaviridae infectious disease property_value: exactMatch DOID:2043 property_value: exactMatch http://identifiers.org/mesh/D006509 property_value: exactMatch http://identifiers.org/snomedct/66071002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019163 property_value: exactMatch NCIT:C3097 property_value: excluded_subClassOf MONDO:0005093 {source="DOID:2043", source="MONDO:Redundant"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004198 name: skin neoplasm def: "A benign or malignant tumor involving the skin. Representative examples of benign skin neoplasms include the benign melanocytic skin nevus, acanthoma, sebaceous adenoma, sweat gland adenoma, lipoma, hemangioma, fibroma, and benign fibrous histiocytoma. Representative examples of malignant skin neoplasms include basal cell carcinoma, squamous cell carcinoma, melanoma, and Kaposi sarcoma." [NCIT:P378] def: "Tumors or cancer of the SKIN." [] synonym: "cancer of the skin" EXACT [] synonym: "neoplasm of skin" EXACT [NCIT:C3372] synonym: "neoplasm of skin by site" EXACT [DOID:3165] synonym: "neoplasm of the skin" EXACT [NCIT:C3372] synonym: "neoplasm of zone of skin" EXACT [MONDO:patterns/neoplasm] synonym: "skin" RELATED [ONCOTREE:SKIN] synonym: "skin benign neoplasm" RELATED [DOID:3165] synonym: "skin cancer" EXACT [] synonym: "skin neoplasm" EXACT [DOID:3165, NCIT:C3372] synonym: "skin neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "skin neoplasms" EXACT [NCIT:C3372] synonym: "skin tumor" EXACT [NCIT:C3372] synonym: "skin tumour" EXACT OMO:0003005 [] synonym: "tumor of skin" EXACT [NCIT:C3372] synonym: "tumor of the skin" EXACT [DOID:3165, NCIT:C3372] synonym: "tumor of zone of skin" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of skin" EXACT OMO:0003005 [] synonym: "tumour of the skin" EXACT OMO:0003005 [] synonym: "tumour of zone of skin" EXACT OMO:0003005 [] synonym: "zone of skin neoplasm" EXACT [] synonym: "zone of skin neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "zone of skin tumor" EXACT [MONDO:patterns/neoplasm] synonym: "zone of skin tumour" EXACT OMO:0003005 [] xref: DOID:3165 {source="MONDO:equivalentTo"} xref: DOID:4159 xref: ICD10:C44 xref: ICD10:D04 xref: ICD10:D23 xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D012878 {source="DOID:3165", source="MONDO:equivalentTo"} xref: MeSH:D012878 xref: MONDO:0002531 xref: NCIT:C3372 {source="DOID:3165", source="MONDO:equivalentTo"} xref: NCIt:C3372 xref: ONCOTREE:SKIN {source="MONDO:equivalentTo"} xref: SCTID:126488004 {source="DOID:3165", source="MONDO:equivalentTo"} xref: UMLS:C0037286 {source="DOID:3165", source="NCIT:C3372", source="MONDO:equivalentTo"} is_a: EFO:0000616 {source="DOID:3165/inferred", source="MESH:D012878/inferred", source="MONDO:Redundant", source="NCIT:C3372/inferred"} ! neoplasm is_a: EFO:0000701 {source="MESH:D012878", source="MONDO:Redundant", source="NCIT:C3372"} ! skin disease property_value: exactMatch DOID:3165 property_value: exactMatch http://identifiers.org/mesh/D012878 property_value: exactMatch http://identifiers.org/snomedct/126488004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037286 property_value: exactMatch NCIT:C3372 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004199 name: dysplastic nevus def: "Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed)" [] synonym: "dysplastic nevi" EXACT [] synonym: "dysplastic nevus syndrome" EXACT [] synonym: "nevus syndrome, dysplastic" EXACT [] xref: DOID:10041 xref: MedDRA:10013961 xref: MeSH:D004416 xref: NCIt:C3694 xref: SNOMEDCT:61814002 is_a: EFO:0004198 ! skin neoplasm property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004200 name: Illumina Genome Analyzer def: "A DNA sequencer developed by Illumina." [] is_a: EFO:0002699 ! high throughput sequencer is_a: OBI:0400103 ! DNA sequencer [Term] id: EFO:0004201 name: Illumina Genome Analyzer II def: "A DNA sequencer developed by Illumina." [] is_a: EFO:0002699 ! high throughput sequencer is_a: OBI:0400103 ! DNA sequencer [Term] id: EFO:0004202 name: Illumina Genome Analyzer IIx def: "A DNA sequencer developed by Illumina." [] is_a: EFO:0002699 ! high throughput sequencer is_a: OBI:0400103 ! DNA sequencer [Term] id: EFO:0004203 name: Illumina HiSeq 2000 def: "The Illumina HiSeq 2000 is a sequencing machine developed by Illumina." [] is_a: EFO:0002699 ! high throughput sequencer property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004204 name: Illumina HiSeq 1000 def: "The Illumina HiSeq 1000 is a sequencing machine developed by Illumina." [] is_a: EFO:0002699 ! high throughput sequencer property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004205 name: Illumina MiSeq def: "The Illumina MiSeq is a high-throughput sequencing machine developed by Illumina. Its primary applications include small whole-genome sequencing, targeted sequencing of a set of genes or gene regions and 16S metagenomic sequencing." [] is_a: EFO:0002699 ! high throughput sequencer property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004206 name: 454 GS 20 sequencer def: "The 454 GS 20 is a GS20 high-throughput sequencing machine developed by 454 Life Sciences." [] is_a: EFO:0002699 ! high throughput sequencer [Term] id: EFO:0004207 name: pathological myopia def: "Excessive axial myopia associated with complications (especially posterior staphyloma and CHOROIDAL NEOVASCULARIZATION) that can lead to BLINDNESS." [] synonym: "degenerative myopia" EXACT [] synonym: "myopia (pathological)" EXACT [] synonym: "myopia, pathological" EXACT [] synonym: "progressive myopia" EXACT [] xref: DOID:11829 is_a: HP:0000545 ! Myopia property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004208 name: Vitiligo def: "A disorder consisting of areas of macular depigmentation, commonly on extensor aspects of extremities, on the face or neck, and in skin folds. Age of onset is often in young adulthood and the condition tends to progress gradually with lesions enlarging and extending until a quiescent state is reached." [] def: "Generalized well circumscribed patches of leukoderma that are generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes." [NCIT:P378] synonym: "vitiligo" EXACT [] {comment="preferred label from MONDO"} xref: DOID:12306 {source="MONDO:equivalentTo", source="EFO:0004208"} xref: ICD10:L80 xref: ICD10CM:L80 {source="DOID:12306", source="MONDO:equivalentTo"} xref: ICD9:709.01 {source="DOID:12306", source="EFO:0004208"} xref: MedDRA:10047642 xref: MESH:D014820 {source="DOID:12306", source="MONDO:equivalentTo", source="EFO:0004208"} xref: MeSH:D014820 xref: MONDO:0008661 xref: NCIT:C26915 {source="DOID:12306", source="MONDO:equivalentTo", source="EFO:0004208"} xref: NCIt:C26915 xref: OMIM:193200 xref: Orphanet:247871 {source="MONDO:equivalentObsolete", source="OMIM:193200"} xref: SNOMEDCT:56727007 xref: UMLS:C0042900 {source="DOID:12306", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C26915"} is_a: EFO:0005140 ! autoimmune disease is_a: EFO:0005809 {source="DC-OMIM:193200", source="DOID:12306", source="EFO:0004208", source="MONDO:Redundant", source="OMIM:193200"} ! type II hypersensitivity reaction disease is_a: MONDO:0002406 {source="NCIT:C26915"} ! dermatitis relationship: EFO:0000784 UBERON:0000014 ! has_disease_location zone of skin property_value: exactMatch DOID:12306 property_value: exactMatch http://identifiers.org/mesh/D014820 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042900 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L80 property_value: exactMatch NCIT:C26915 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004209 name: hypospadias def: "A birth defect due to malformation of the URETHRA in which the urethral opening is below its normal location. In the male, the malformed urethra generally opens on the ventral surface of the PENIS or on the PERINEUM. In the female, the malformed urethral opening is in the VAGINA." [] def: "Hypospadias is the displacement of the urethral meatus on the ventrum of the penis. This abnormality is associated with a varyingly bent, twisted penis and opened dorsal prepuce." [Orphanet:440] subset: ordo_morphological_anomaly {source="Orphanet:440"} synonym: "familial hypospadias" EXACT [DOID:10892] synonym: "hypospadias" EXACT [] {comment="preferred label from MONDO"} synonym: "hypospadias" EXACT [MONDO:ambiguous] synonym: "hypospadias (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "hypospadias familial" RELATED [GARD:0002929] xref: DOID:10892 {source="MONDO:equivalentTo", source="EFO:0004209"} xref: HP:0000047 {source="MONDO:otherHierarchy", source="EFO:0004209"} xref: ICD10:Q54 xref: ICD9:752.61 {source="EFO:0004209"} xref: MedDRA:10021093 xref: MESH:D007021 {source="MONDO:equivalentTo", source="EFO:0004209", source="DOID:10892"} xref: MeSH:D007021 xref: MONDO:0005345 xref: NCIT:C40341 {source="MONDO:equivalentTo", source="EFO:0004209", source="DOID:10892"} xref: NCIt:C40341 xref: OMIMPS:300633 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:440 {source="MONDO:equivalentObsolete", source="DOID:10892"} xref: SCTID:416010008 {source="MONDO:equivalentTo", source="EFO:0004209", source="DOID:10892"} xref: SNOMEDCT:416010008 xref: UMLS:C0848558 {source="MONDO:equivalentTo", source="DOID:10892"} xref: UMLS:CN205090 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0015933 {source="Orphanet:440"} ! non-syndromic urogenital tract malformation of male property_value: exactMatch DOID:10892 property_value: exactMatch http://identifiers.org/mesh/D007021 property_value: exactMatch http://identifiers.org/snomedct/416010008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0848558 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205090 property_value: exactMatch https://omim.org/phenotypicSeries/PS300633 property_value: exactMatch NCIT:C40341 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000589 "hypospadias (disease)" xsd:string [Term] id: EFO:0004210 name: gallstones def: "Solid crystalline precipitates in the BILIARY TRACT, usually formed in the GALLBLADDER, resulting in the condition of CHOLELITHIASIS. Gallstones, derived from the BILE, consist mainly of calcium, cholesterol, or bilirubin." [] def: "Solid crystalline precipitates in the biliary tract, usually formed in the gallbladder, resulting in the condition of cholelithiasis. Gallstones, derived from the bile, consist mainly of calcium, cholesterol, or bilirubin." [MESH:D042882] synonym: "Biliary Calculi" EXACT [] synonym: "Gall Stone" EXACT [] synonym: "Gall Stones" EXACT [] synonym: "gallstones" EXACT [] {comment="preferred label from MONDO"} xref: ICD9:574.20 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10017650 xref: MESH:D042882 {source="EFO:0004210", source="MONDO:equivalentTo"} xref: MeSH:D042882 xref: MONDO:0005346 xref: SCTID:235919008 {source="MONDO:equivalentTo"} is_a: EFO:0003832 {source="EFO:0004210", source="MESH:D042882/inferred"} ! gallbladder disease property_value: exactMatch http://identifiers.org/mesh/D042882 property_value: exactMatch http://identifiers.org/snomedct/235919008 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004211 name: Hypertriglyceridemia def: "A condition of elevated levels of TRIGLYCERIDES in the blood." [] def: "A laboratory test result indicating elevated triglyceride concentration in the blood." [NCIT:P378] synonym: "hypertriglyceridemia" EXACT [] {comment="preferred label from MONDO"} synonym: "hypertriglyceridemia" EXACT [MONDO:ambiguous] synonym: "hypertriglyceridemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0002155 {source="MONDO:otherHierarchy"} xref: MedDRA:10020870 xref: MESH:D015228 {source="EFO:0004211", source="MONDO:equivalentTo"} xref: MeSH:D015228 xref: MONDO:0005347 xref: NCIt:C37971 xref: SCTID:302870006 {source="EFO:0004211", source="MONDO:equivalentTo"} xref: SNOMEDCT:302870006 xref: UMLS:C0020557 {source="MONDO:equivalentTo"} is_a: EFO:0000589 {source="EFO:0004211", source="MESH:D015228/inferred"} ! metabolic disease property_value: exactMatch http://identifiers.org/mesh/D015228 property_value: exactMatch http://identifiers.org/snomedct/302870006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020557 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000589 "hypertriglyceridemia (disease)" xsd:string [Term] id: EFO:0004212 name: Keloid def: "A sharply elevated, irregularly shaped, progressively enlarging scar resulting from formation of excessive amounts of collagen in the dermis during connective tissue repair. It is differentiated from a hypertrophic scar ( CICATRIX, HYPERTROPHIC) in that the former does not spread to surrounding tissues." [] def: "An irregularly shaped, elevated mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It extends beyond the original boundaries of the wound and may enlarge progressively." [NCIT:P378] synonym: "keloid" EXACT [] {comment="preferred label from MONDO"} synonym: "keloids" EXACT [] xref: ICD9:701.4 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10023329 xref: MESH:D007627 {source="EFO:0004212", source="MONDO:equivalentTo"} xref: MeSH:D007627 xref: MONDO:0005348 xref: NCIT:C3145 {source="EFO:0004212", source="MONDO:equivalentTo"} xref: NCIt:C3145 xref: SCTID:33659008 {source="MONDO:equivalentTo"} xref: SNOMEDCT:58405006 is_a: EFO:1000759 {source="NCIT:C3145"} ! reactive cutaneous fibrous lesion relationship: EFO:0000784 UBERON:0000014 ! has_disease_location zone of skin property_value: exactMatch http://identifiers.org/mesh/D007627 property_value: exactMatch http://identifiers.org/snomedct/33659008 property_value: exactMatch NCIT:C3145 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004213 name: otosclerosis def: "Formation of spongy bone in the labyrinth capsule which can progress toward the STAPES (stapedial fixation) or anteriorly toward the COCHLEA leading to conductive, sensorineural, or mixed HEARING LOSS. Several genes are associated with familial otosclerosis with varied clinical signs." [] def: "Formation of spongy bone in the labyrinth capsule which can progress toward the stapes (stapedial fixation) or anteriorly toward the cochlea leading to conductive, sensorineural, or mixed hearing loss. Several genes are associated with familial otosclerosis with varied clinical signs." [MESH:D010040] synonym: "otosclerosis" EXACT [MONDO:ambiguous] synonym: "otosclerosis" EXACT [] {comment="preferred label from MONDO"} synonym: "otosclerosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "otospongiosis" EXACT [] xref: DOID:12185 {source="EFO:0004213", source="MONDO:equivalentTo"} xref: HP:0000362 {source="MONDO:otherHierarchy"} xref: ICD10:H80 xref: ICD9:387 {source="EFO:0004213"} xref: ICD9:387.8 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:12185"} xref: ICD9:387.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10033103 xref: MedDRA:10033107 xref: MedDRA:10033108 xref: MESH:D010040 {source="EFO:0004213", source="MONDO:equivalentTo"} xref: MeSH:D010040 xref: MONDO:0005349 xref: NCIT:C185242 {source="MONDO:equivalentTo"} xref: OMIMPS:166800 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:2794 {source="MONDO:equivalentObsolete", source="DOID:12185"} xref: SCTID:11543004 {source="EFO:0004213", source="MONDO:equivalentTo"} xref: SNOMEDCT:11543004 xref: UMLS:C0029899 {source="MONDO:equivalentTo"} is_a: EFO:0009672 {source="DOID:12185"} ! inner ear disease is_a: MONDO:0018751 ! hereditary otorhinolaryngologic disease is_a: MONDO:0037940 ! inherited auditory system disease property_value: exactMatch DOID:12185 property_value: exactMatch http://identifiers.org/mesh/D010040 property_value: exactMatch http://identifiers.org/snomedct/11543004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029899 property_value: exactMatch https://omim.org/phenotypicSeries/PS166800 property_value: exactMatch NCIT:C185242 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000589 "otosclerosis (disease)" xsd:string [Term] id: EFO:0004214 name: Abdominal Aortic Aneurysm def: "An abnormal balloon- or sac-like dilatation in the wall of the ABDOMINAL AORTA which gives rise to the visceral, the parietal, and the terminal (iliac) branches below the aortic hiatus at the diaphragm." [] def: "Enlargement and ballooning of the vessel that supplies arterial blood to the abdomen, pelvis and legs." [NCIT:P378] synonym: "abdominal aortic aneurysm" EXACT [] {comment="preferred label from MONDO"} synonym: "Aortic Aneurysm, Abdominal" EXACT [] synonym: "aortic aneurysm, familial abdominal 1" NARROW [DOID:7693] xref: DOID:7693 {source="EFO:0004214", source="MONDO:equivalentTo"} xref: MedDRA:10000054 xref: MESH:D017544 {source="EFO:0004214", source="MONDO:equivalentTo", source="DOID:7693"} xref: MeSH:D017544 xref: MONDO:0005350 xref: NCIt:C27000 xref: SCTID:233985008 {source="EFO:0004214", source="MONDO:equivalentTo", source="DOID:7693"} xref: SNOMEDCT:233985008 xref: UMLS:C0162871 {source="MONDO:equivalentTo", source="DOID:7693"} is_a: EFO:0001666 {source="DOID:7693", source="EFO:0004214"} ! aortic aneurysm property_value: exactMatch DOID:7693 property_value: exactMatch http://identifiers.org/mesh/D017544 property_value: exactMatch http://identifiers.org/snomedct/233985008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162871 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004215 name: obsolete_anorexia nervosa def: "An eating disorder that is characterized by the lack or loss of APPETITE, known as ANOREXIA. Other features include excess fear of becoming OVERWEIGHT; BODY IMAGE disturbance; significant WEIGHT LOSS; refusal to maintain minimal normal weight; and AMENORRHEA. This disorder occurs most frequently in adolescent females. (APA, Thesaurus of Psychological Index Terms, 1994)." [] xref: DOID:8689 xref: ICD9:307.1 xref: MedDRA:10002649 xref: MeSH:D000856 xref: NCIt:C34387 xref: OMIM:610269 xref: SNOMEDCT:56882008 property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.51.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicated \nUse: http://purl.obolibrary.org/obo/MONDO_0005351" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/MONDO_0005351 [Term] id: EFO:0004216 name: conduct disorder def: "A disorder diagnosed in childhood or adolescence age group characterized by aggressive behavior, deceitfulness, destruction of property or violation of rules that is persistent and repetitive, and within a one year period." [NCIT:P378] def: "A repetitive and persistent pattern of behavior in which the basic rights of others or major age-appropriate societal norms or rules are violated. These behaviors include aggressive conduct that causes or threatens physical harm to other people or animals, nonaggressive conduct that causes property loss or damage, deceitfulness or theft, and serious violations of rules. The onset is before age 18. (From DSM-IV, 1994)." [] synonym: "conduct dis" EXACT [] synonym: "conduct disorder" EXACT [] {comment="preferred label from MONDO"} xref: DOID:12995 {source="MONDO:equivalentTo", source="EFO:0004216"} xref: ICD10:F91 xref: ICD9:312.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:312.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12995"} xref: MedDRA:10064478 xref: MESH:D019955 {source="MONDO:equivalentTo", source="EFO:0004216", source="DOID:12995"} xref: MeSH:D019955 xref: MONDO:0005352 xref: NCIT:C89329 {source="MONDO:equivalentTo", source="EFO:0004216", source="DOID:12995"} xref: NCIt:C89329 xref: SCTID:430909002 {source="MONDO:equivalentTo", source="EFO:0004216", source="DOID:12995"} xref: SNOMEDCT:430909002 is_a: MONDO:0000592 {source="DOID:12995"} ! specific developmental disorder property_value: exactMatch DOID:12995 property_value: exactMatch http://identifiers.org/mesh/D019955 property_value: exactMatch http://identifiers.org/snomedct/430909002 property_value: exactMatch NCIT:C89329 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004217 name: obsolete_Biliary atresia def: "Progressive destruction or the absence of all or part of the extrahepatic BILE DUCTS, resulting in the complete obstruction of BILE flow. Usually, biliary atresia is found in infants and accounts for one third of the neonatal cholestatic JAUNDICE." [] synonym: "Atresia, Biliary" EXACT [] synonym: "Biliary Atresia, Extrahepatic" EXACT [] synonym: "Familial Extrahepatic Biliary Atresia" EXACT [] synonym: "Idiopathic Extrahepatic Biliary Atresia" EXACT [] xref: MeSH:D001656 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_30391' instead.\nNew Label : Biliary atresia" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_30391 [Term] id: EFO:0004218 name: obsolete_marijuana dependence def: "The excessive use of marijuana with associated psychological symptoms and impairment in social or occupational functioning." [] xref: ICD10:F12 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.97" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use: EFO_0007191 label: cannabis dependence" xsd:string property_value: IAO:0000117 "Zoe May Pendlington" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0007191 [Term] id: EFO:0004219 name: CD8-Positive T-Lymphocytes def: "A critical subpopulation of regulatory T-lymphocytes involved in MHC Class I-restricted interactions. They include both cytotoxic T-lymphocytes ( T-LYMPHOCYTES, CYTOTOXIC) and CD8+ suppressor T-lymphocytes." [] synonym: "CD8-Positive Lymphocytes" EXACT [] synonym: "Suppressor T-Cells, CD8-Positive" EXACT [] synonym: "Suppressor T-Lymphocytes, CD8-Positive" EXACT [] synonym: "T8 cells" EXACT [] synonym: "T8 Lymphocytes" EXACT [] xref: MeSH:D018414 is_a: CL:0000815 ! regulatory T cell property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004220 name: chronic hepatitis C virus infection def: "Chronic form of hepatitis C infection." [MONDO:patterns/chronic] def: "INFLAMMATION of the LIVER in humans that is caused by HEPATITIS C VIRUS lasting six months or more. Chronic hepatitis C can lead to LIVER CIRRHOSIS." [] synonym: "chronic Hepatitis C" EXACT [MESH:D019698] synonym: "Chronic Hepatitis C infection" EXACT [] synonym: "chronic hepatitis C infection" EXACT [] synonym: "chronic hepatitis C virus infection" EXACT [] {comment="preferred label from MONDO"} synonym: "chronic hepatitis C with hepatic coma" EXACT [] synonym: "chronic type C viral hepatitis" EXACT [] synonym: "chronic viral hepatitis C" EXACT [] synonym: "hepatitis C infection, chronic" EXACT [MONDO:patterns/chronic] synonym: "Hepatitis C, Chronic" EXACT [] synonym: "hepatitis C, chronic" EXACT [MONDO:patterns/chronic] xref: ICD9:070.44 {source="EFO:0004220"} xref: MESH:D019698 {source="MONDO:equivalentTo", source="EFO:0004220"} xref: MeSH:D019698 xref: MONDO:0005354 xref: SNOMEDCT:128302006 is_a: EFO:0003047 {source="EFO:0004220", source="MESH:D019698", source="MONDO:Redundant"} ! hepatitis C virus infection is_a: EFO:0009714 ! chronic disease relationship: has_modifier HP:0011010 ! Chronic property_value: exactMatch http://identifiers.org/mesh/D019698 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004221 name: obsolete_External ear def: "The outer part of the hearing system of the body. It includes the shell-like EAR AURICLE which collects sound, and the EXTERNAL EAR CANAL, the TYMPANIC MEMBRANE, and the EXTERNAL EAR CARTILAGES." [] synonym: "ear, external" EXACT [] synonym: "earlobe" EXACT [] synonym: "earlobes" EXACT [] synonym: "outer ear" EXACT [] xref: MeSH:D004431 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001691\nlabel: external ear" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001691 [Term] id: EFO:0004222 name: obsolete_astigmatism def: "Unequal curvature of the refractive surfaces of the eye. Thus a point source of light cannot be brought to a point focus on the retina but is spread over a more or less diffuse area. This results from the radius of curvature in one plane being longer or shorter than the radius at right angles to it. (Dorland, 27th ed)." [] xref: DOID:11782 xref: ICD9:367.2 xref: MeSH:D001251 xref: SNOMEDCT:82649003 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.64" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced by Astigmatism" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HP_0000483 [Term] id: EFO:0004223 name: obsolete_Keratoconus def: "A noninflammatory, usually bilateral protrusion of the cornea, the apex being displaced downward and nasally. It occurs most commonly in females at about puberty. The cause is unknown but hereditary factors may play a role. The -conus refers to the cone shape of the corneal protrusion. (From Dorland, 27th ed)." [] xref: MeSH:D007640 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_156071' instead.\nNew Label : Keratoconus" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_156071 [Term] id: EFO:0004224 name: Coronary Restenosis def: "Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction." [MESH:D023903] synonym: "coronary restenosis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:4247 {source="EFO:0004224", source="MONDO:equivalentTo"} xref: MedDRA:10052789 xref: MESH:D023903 {source="EFO:0004224", source="DOID:4247", source="MONDO:equivalentTo"} xref: MeSH:D023903 xref: MONDO:0005355 xref: UMLS:C0948480 {source="DOID:4247", source="MONDO:equivalentTo"} is_a: MONDO:0006715 {source="DOID:4247", source="MESH:D023903"} ! coronary stenosis property_value: exactMatch DOID:4247 property_value: exactMatch http://identifiers.org/mesh/D023903 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0948480 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004225 name: Coronary Vasospasm def: "Spasm of the large- or medium-sized coronary arteries." [] def: "Sudden coronary artery smooth muscle contraction leading to lumen constriction and decreased blood flow." [NCIT:P378] synonym: "coronary artery spasm" EXACT [DOID:11840] synonym: "Coronary Artery Vasospasm" EXACT [] synonym: "coronary artery vasospasm" RELATED [DOID:11840] synonym: "Coronary spasm" EXACT [] synonym: "coronary vasospasm" EXACT [] {comment="preferred label from MONDO"} synonym: "coronary vasospasm" EXACT [DOID:11840, NCIT:C34515] xref: DOID:11840 {source="EFO:0004225", source="MONDO:equivalentTo"} xref: ICD9:413.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10011110 xref: MESH:D003329 {source="EFO:0004225", source="MONDO:equivalentTo", source="DOID:11840"} xref: MeSH:D003329 xref: MONDO:0005356 xref: NCIt:C34515 xref: SCTID:23687008 {source="MONDO:equivalentTo", source="DOID:11840"} xref: UMLS:C0010073 {source="MONDO:equivalentTo", source="DOID:11840"} is_a: EFO:0001645 {source="DOID:11840", source="EFO:0004225"} ! coronary artery disease property_value: exactMatch DOID:11840 property_value: exactMatch http://identifiers.org/mesh/D003329 property_value: exactMatch http://identifiers.org/snomedct/23687008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010073 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004226 name: Creutzfeldt Jacob Disease def: "A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS. (From N Engl J Med, 1998 Dec 31;339(27))." [] def: "A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease." [NCIT:P378] synonym: "CJD" EXACT ABBREVIATION [DOID:11949] synonym: "CJD (Creutzfeldt Jakob disease)" EXACT [DOID:11949] synonym: "classic Creutzfeldt-Jakob disease" EXACT [NCIT:C26802] synonym: "Creutzfeldt Jacob disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Creutzfeldt Jacob syndrome" EXACT [DOID:11949] synonym: "Creutzfeldt Jakob disease" EXACT [DOID:11949] synonym: "Creutzfeldt-Jacob disease" EXACT [DOID:11949, NCIT:C26802] synonym: "Creutzfeldt-Jakob Disease" EXACT [] synonym: "Creutzfeldt-Jakob disease" RELATED [DOID:11949] synonym: "Creutzfeldt-Jakob Disease, Familial" EXACT [] synonym: "Creutzfeldt-Jakob Syndrome" EXACT [] synonym: "Familial Creutzfeldt-Jakob Disease" EXACT [] synonym: "Jakob-Creutzfeldt disease" EXACT [DOID:11949, ICD9CM:046.1] synonym: "Spongiform Encephalopathy, Subacute" EXACT [] synonym: "Subacute spongiform encephalopathy" EXACT [DOID:11949] synonym: "transmissible virus dementia" EXACT [DOID:11949] xref: DOID:11949 {source="EFO:0004226", source="MONDO:equivalentTo"} xref: ICD9:046.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11949"} xref: ICD9:046.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D007562 {source="EFO:0004226", source="MONDO:equivalentTo", source="DOID:11949"} xref: MeSH:D007562 xref: MONDO:0005357 xref: NCIT:C26802 {source="EFO:0004226", source="MONDO:equivalentTo", source="DOID:11949"} xref: NCIt:C26802 xref: SCTID:792004 {source="MONDO:equivalentTo", source="DOID:11949"} is_a: EFO:0004720 {source="DOID:11949", source="EFO:0004226", source="MESH:D007562"} ! prion disease property_value: exactMatch DOID:11949 property_value: exactMatch http://identifiers.org/mesh/D007562 property_value: exactMatch http://identifiers.org/snomedct/792004 property_value: exactMatch NCIT:C26802 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004227 name: Dengue Hemorrhagic Fever def: "A serious condition caused by Dengue virus infection. Patients present with an acute febrile illness followed by restlessness, irritability, and bleeding. It may lead to hemorrhagic shock and death." [NCIT:P378] def: "A virulent form of dengue characterized by THROMBOCYTOPENIA and an increase in vascular permeability (grades I and II) and distinguished by a positive pain test (e.g., TOURNIQUET PAIN TEST). When accompanied by SHOCK (grades III and IV), it is called dengue shock syndrome." [] synonym: "Dengue haemorrhagic fever" RELATED [DOID:12206] synonym: "Dengue hemorrhagic fever" EXACT [] {comment="preferred label from MONDO"} synonym: "Dengue Shock Syndrome" EXACT [] synonym: "DHF" EXACT ABBREVIATION [DOID:12206] synonym: "Hemorrhagic Dengue" EXACT [] synonym: "Hemorrhagic Fever, Dengue" EXACT [] synonym: "Philippine Hemorrhagic Fever" EXACT [] synonym: "Singapore Hemorrhagic Fever" EXACT [] synonym: "Thai Hemorrhagic Fever" EXACT [] xref: DOID:12206 {source="MONDO:equivalentTo", source="EFO:0004227"} xref: ICD10CM:A91 {source="DOID:12206", source="MONDO:equivalentTo"} xref: MedDRA:10012313 xref: MONDO:0005358 xref: NCIT:C34683 {source="DOID:12206", source="MONDO:equivalentTo", source="EFO:0004227"} xref: NCIt:C34683 xref: SCTID:20927009 {source="DOID:12206", source="MONDO:equivalentTo", source="EFO:0004227"} xref: SNOMEDCT:20927009 is_a: EFO:0005547 {source="DOID:12206", source="EFO:0004227", source="NCIT:C34683"} ! dengue disease is_a: MONDO:0018087 {source="https://github.com/monarch-initiative/mondo/issues/1992"} ! viral hemorrhagic fever property_value: exactMatch DOID:12206 property_value: exactMatch http://identifiers.org/snomedct/20927009 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A91 property_value: exactMatch NCIT:C34683 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004228 name: drug-induced liver injury def: "A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to ACUTE LIVER FAILURE, caused by drugs, drug metabolites, and chemicals from the environment." [] def: "A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to acute liver failure, caused by drugs, drug metabolites, and chemicals from the environment." [MESH:D056486] synonym: "drug induced hepatotoxicity" EXACT [https://orcid.org/0000-0002-8169-9049, OMOP:4144765, SCTID:427399008] synonym: "drug-induced disorder of liver" EXACT [https://orcid.org/0000-0002-8169-9049, OMOP:4144765, SCTID:427399008] synonym: "Drug-Induced Liver Disease" EXACT [] synonym: "drug-induced liver injury" EXACT [] {comment="preferred label from MONDO"} synonym: "Hepatitis, Drug-Induced" EXACT [] synonym: "Hepatitis, Toxic" EXACT [] synonym: "Liver Injury, Drug-Induced" EXACT [] synonym: "Toxic Hepatitis" EXACT [] xref: MedDRA:10072268 xref: MESH:D056486 {source="EFO:0004228", source="MONDO:equivalentTo"} xref: MeSH:D056486 xref: MONDO:0005359 xref: SCTID:197352008 {source="EFO:0004228", source="MONDO:equivalentTo"} xref: SNOMEDCT:197352008 is_a: EFO:0001421 {source="EFO:0004228", source="MESH:D056486", source="MONDO:Redundant"} ! liver disease property_value: exactMatch http://identifiers.org/mesh/D056486 property_value: exactMatch http://identifiers.org/snomedct/197352008 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004229 name: Dupuytren Contracture def: "A fibromatosis of the palmar fascia characterized by thickening and contracture of the fibrous bands on the palmar surfaces of the hand and fingers. It arises most commonly in men between the ages of 30 and 50." [] synonym: "Dupuytren's Contracture" EXACT [] synonym: "Dupuytren's Disease" EXACT [] xref: MeSH:D004387 xref: SNOMEDCT:274142002 xref: SNOMEDCT:410812005 is_a: EFO:0003899 ! contracture property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004230 name: endometrial neoplasm def: "Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells." [] synonym: "endometrial neoplasms" EXACT [] synonym: "ovarian endometrioid neoplasm" EXACT [] xref: DOID:1380 xref: DOID:2871 xref: MedDRA:10014759 xref: MeSH:D016889 xref: NCIt:C3012 xref: OMIM:608089 xref: SNOMEDCT:254878006 is_a: EFO:0003859 ! uterine neoplasm relationship: EFO:0000784 UBERON:0001295 ! has_disease_location endometrium property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004231 name: obsolete_brachial artery def: "The continuation of the axillary artery; it branches into the radial and ulnar arteries." [] xref: MeSH:D001916 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use: http://purl.obolibrary.org/obo/UBERON_0001398\nlabel: brachial artery" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001398 [Term] id: EFO:0004232 name: eosinophilic esophagitis def: "Chronic ESOPHAGITIS characterized by esophageal mucosal EOSINOPHILIA. It is diagnosed when an increase in EOSINOPHILS are present over the entire esophagus. The reflux symptoms fail to respond to PROTON PUMP INHIBITORS treatment, unlike in GASTROESOPHAGEAL REFLUX DISEASE. The symptoms are associated with IgE-mediated hypersensitivity to food or inhalant allergens." [] def: "Eosinophilic esophagitis (EoE) is a chronic, allergic disease of the esophagus characterized clinically by symptoms of esophageal dysfunction (including vomiting, dysphagia, feeding disorders, food impaction and abdominal pain) which persist after treatment with proton pump inhibitors (PPIs)." [Orphanet:73247] subset: ordo_disease {source="Orphanet:73247"} synonym: "chronic esophagitis, eosinophilic" EXACT [] synonym: "EoE" EXACT [Orphanet:73247] synonym: "eosinophilic esophagitis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:13922 {source="EFO:0004232", source="MONDO:equivalentTo"} xref: ICD10CM:K20.0 {source="DOID:13922", source="MONDO:equivalentTo"} xref: ICD9:530.13 {source="EFO:0004232", source="DOID:13922", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10064212 {source="Orphanet:73247", source="Orphanet:73247/e"} xref: MedDRA:10064220 xref: MESH:D057765 {source="EFO:0004232", source="DOID:13922", source="Orphanet:73247", source="MONDO:equivalentTo", source="Orphanet:73247/e"} xref: MeSH:D057765 xref: MONDO:0005361 xref: NCIT:C27105 {source="EFO:0004232", source="DOID:13922", source="MONDO:equivalentTo"} xref: NCIt:C27105 xref: Orphanet:73247 {source="DOID:13922", source="MONDO:equivalentObsolete"} xref: SCTID:235599003 {source="EFO:0004232", source="DOID:13922", source="MONDO:equivalentTo"} xref: SNOMEDCT:235599003 xref: UMLS:C0341106 {source="DOID:13922", source="Orphanet:73247", source="MONDO:equivalentTo", source="NCIT:C27105", source="Orphanet:73247/e"} is_a: MONDO:0001409 {source="DOID:13922", source="MESH:D057765", source="NCIT:C27105"} ! esophagitis is_a: MONDO:0018438 {source="Orphanet:73247"} ! eosinophilic gastrointestinal disease property_value: closeMatch http://identifiers.org/meddra/10064212 property_value: exactMatch DOID:13922 property_value: exactMatch http://identifiers.org/mesh/D057765 property_value: exactMatch http://identifiers.org/snomedct/235599003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341106 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K20.0 property_value: exactMatch NCIT:C27105 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004233 name: leukopenia def: "decrease in no. of leukocytes" [] synonym: "leukocytopenia" EXACT [] xref: DOID:615 xref: MedDRA:10024384 xref: MeSH:D007970 xref: NCIt:C26816 xref: SNOMEDCT:84828003 is_a: HP:0001881 ! Abnormal leukocyte morphology relationship: RO:0002314 UBERON:0002405 ! inheres in part of immune system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004234 name: erectile dysfunction def: "Persistent or recurrent inability to achieve or to maintain an erection during sexual activity." [NCIT:P378] def: "The inability in the male to have a PENILE ERECTION due to psychological or organ dysfunction." [] synonym: "dysfunction, erectile" RELATED [MESH:D007172] synonym: "erectile dysfunction" EXACT [] {comment="preferred label from MONDO"} synonym: "erectile dysfunction" EXACT [DOID:1875, MONDO:ambiguous] synonym: "erectile dysfunction (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "impotence" EXACT [] synonym: "impotence" RELATED [DOID:1875, MESH:D007172] synonym: "impotence, male" RELATED [MESH:D007172] synonym: "impotence, male sexual" RELATED [MESH:D007172] synonym: "male erectile Disorder" EXACT [NCIT:C34801] synonym: "male impotence" EXACT [] synonym: "male impotence" RELATED [MESH:D007172] synonym: "male sexual impotence" EXACT [] synonym: "male sexual impotence" RELATED [MESH:D007172] synonym: "sexual impotence" EXACT [DOID:1875] synonym: "sexual impotence (finding)" EXACT [DOID:1875] synonym: "sexual impotence, Male" RELATED [MESH:D007172] xref: DOID:1875 {source="EFO:0004234", source="MONDO:equivalentTo"} xref: HP:0000802 {source="MONDO:otherHierarchy"} xref: MedDRA:10061461 xref: MESH:D007172 {source="EFO:0004234", source="MONDO:equivalentTo"} xref: MeSH:D007172 xref: MONDO:0005362 xref: NCIt:C3133 xref: NCIT:C34801 {source="MONDO:equivalentTo"} xref: SCTID:397803000 {source="EFO:0004234", source="MONDO:equivalentTo"} xref: SNOMEDCT:397803000 is_a: MONDO:0002036 ! penile disorder is_a: MONDO:0002134 {source="DOID:1875", source="MESH:D007172"} ! physiological sexual disorder relationship: EFO:0000784 UBERON:0000989 ! has_disease_location penis property_value: exactMatch DOID:1875 property_value: exactMatch http://identifiers.org/mesh/D007172 property_value: exactMatch http://identifiers.org/snomedct/397803000 property_value: exactMatch NCIT:C34801 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000589 "erectile dysfunction (disease)" xsd:string [Term] id: EFO:0004235 name: exfoliation syndrome def: "An autosomal dominant disorder caused by mutations in the LOXL1 gene, encoding lysyl oxidase homolog 1. The condition is characterized by abnormal fibrillar extracellular material in anterior segment tissues, and may lead to glaucoma." [NCIT:C129025] def: "The deposition of flaky, translucent fibrillar material most conspicuous on the anterior lens capsule and pupillary margin but also in both surfaces of the iris, the zonules, trabecular meshwork, ciliary body, corneal endothelium, and orbital blood vessels. It sometimes forms a membrane on the anterior iris surface. Exfoliation refers to the shedding of pigment by the iris. (Newell, Ophthalmology, 7th ed, p380)" [] synonym: "exfoliation glaucoma" EXACT [] synonym: "exfoliation syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "exfoliative syndrome" EXACT [] synonym: "Glaucoma Capsulare" EXACT [] synonym: "pseudo-exfoliation syndrome" EXACT [] synonym: "pseudoexfoliation glaucoma" EXACT [DOID:13641, ICD9CM:365.52] synonym: "pseudoexfoliation syndrome" EXACT [DOID:13641, Orphanet:529819] synonym: "XFG" EXACT ABBREVIATION [NCIT:C129025] synonym: "XFS" EXACT ABBREVIATION [MONDO:Lexical, Orphanet:529819] xref: DOID:13641 {source="EFO:0004235", source="MONDO:equivalentTo"} xref: ICD9:365.52 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13641"} xref: MedDRA:10074027 xref: MESH:D017889 {source="EFO:0004235", source="MONDO:equivalentTo", source="DOID:13641"} xref: MeSH:D017889 xref: MONDO:0008327 xref: NCIT:C129025 {source="MONDO:equivalentTo"} xref: OMIM:177650 xref: Orphanet:529819 {source="MONDO:equivalentObsolete"} xref: SCTID:111514006 {source="MONDO:equivalentTo", source="DOID:13641"} xref: UMLS:C0206368 {source="NCIT:C129025", source="MONDO:equivalentTo", source="OMIM:177650", source="MONDO:ncbi_mim2gene_medline", source="DOID:13641"} is_a: MONDO:0001554 {source="DOID:13641"} ! phacogenic glaucoma is_a: MONDO:0002254 {source="NCIT:C129025"} ! syndromic disease is_a: MONDO:0002289 {source="DOID:13641", source="MESH:D017889"} ! iris disorder is_a: MONDO:0018174 ! hereditary glaucoma property_value: exactMatch DOID:13641 property_value: exactMatch http://identifiers.org/mesh/D017889 property_value: exactMatch http://identifiers.org/snomedct/111514006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206368 property_value: exactMatch NCIT:C129025 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4882 xsd:anyURI [Term] id: EFO:0004236 name: focal segmental glomerulosclerosis def: "A clinicopathological syndrome or diagnostic term for a type of glomerular injury that has multiple causes, primary or secondary. Clinical features include PROTEINURIA, reduced GLOMERULAR FILTRATION RATE, and EDEMA. Kidney biopsy initially indicates focal segmental glomerular consolidation (hyalinosis) or scarring which can progress to globally sclerotic glomeruli leading to eventual KIDNEY FAILURE." [] def: "A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure." [NCIT:C37308] synonym: "FGS" EXACT ABBREVIATION [DOID:1312] synonym: "FGS (focal glomerular sclerosis)" EXACT [DOID:1312] synonym: "focal glomerular sclerosis" EXACT [DOID:1312] synonym: "focal glomerulosclerosis" EXACT [DOID:1312] synonym: "focal segmental glomerulosclerosis" EXACT [] {comment="preferred label from MONDO"} synonym: "FSGS" EXACT ABBREVIATION [DOID:1312] synonym: "FSGS - focal segmental glomerulosclerosis" EXACT [NCIT:C37308] synonym: "glomerulonephritis, focal sclerosing" EXACT [] synonym: "glomerulosclerosis" EXACT [] synonym: "glomerulosclerosis, focal" EXACT [] synonym: "glomerulosclerosis, focal segmental" EXACT [] xref: DOID:1312 {source="EFO:0004236", source="MONDO:equivalentTo"} xref: ICD9:582.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10067757 xref: MESH:D005923 {source="EFO:0004236", source="MONDO:equivalentTo", source="DOID:1312"} xref: MeSH:D005923 xref: MONDO:0100313 xref: NCIT:C37308 {source="EFO:0004236", source="MONDO:equivalentTo", source="DOID:1312"} xref: NCIt:C37308 xref: OMIM:603965 xref: OMIM:607832 xref: OMIM:612551 xref: OMIM:613237 xref: OMIM:614131 xref: OMIM:616002 xref: OMIM:616032 xref: OMIM:616220 xref: SCTID:236403004 {source="EFO:0004236", source="MONDO:equivalentTo", source="DOID:1312"} xref: SNOMEDCT:236403004 xref: UMLS:CN043606 {source="MONDO:equivalentTo"} is_a: MONDO:0000490 {source="DOID:1312"} ! glomerulosclerosis property_value: exactMatch DOID:1312 property_value: exactMatch http://identifiers.org/mesh/D005923 property_value: exactMatch http://identifiers.org/snomedct/236403004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN043606 property_value: exactMatch NCIT:C37308 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004237 name: Graves disease def: "A common form of hyperthyroidism with a diffuse hyperplastic GOITER. It is an autoimmune disorder that produces antibodies against the THYROID STIMULATING HORMONE RECEPTOR. These autoantibodies activate the TSH receptor, thereby stimulating the THYROID GLAND and hypersecretion of THYROID HORMONES. These autoantibodies can also affect the eyes ( GRAVES OPHTHALMOPATHY) and the skin (Graves dermopathy)." [] def: "Graves' disease is an autoimmune disorder that leads to overactivity of the thyroid gland (hyperthyroidism).It is caused by an abnormal immune system response that causes the thyroid gland to produce too much thyroid hormones. Graves disease is the most common cause of hyperthyroidism andoccurs mostoften in women over age 20. However, the disorder may occur at any age and may affect males as well.Treatmentmayinclude radioiodine therapy, antithyroid drugs, and/or thyroid surgery." [GARD:0006549] subset: gard_rare {source="GARD:0006549"} synonym: "Basedow disease" EXACT [] synonym: "Basedow disease" RELATED [GARD:0006549] synonym: "Basedow's disease" EXACT [] synonym: "Basedow's disease" RELATED [DOID:12361] synonym: "exophthalmic goiter" EXACT [DOID:12361] synonym: "exophthalmic goitre" EXACT OMO:0003005 [] synonym: "Flajani-Basedow-Graves disease" EXACT [] synonym: "grave's disease" EXACT [DOID:12361] synonym: "Graves disease" EXACT [DOID:12361] synonym: "Graves disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Graves' disease" EXACT [] synonym: "Graves' disease" RELATED [DOID:12361] synonym: "Graves' hyperthyroidism" RELATED [GARD:0006549] synonym: "parry disease" RELATED [GARD:0006549] synonym: "toxic diffuse goiter" EXACT [] xref: DOID:10719 xref: DOID:12361 {source="EFO:0004237", source="MONDO:equivalentTo"} xref: ICD9:242.0 {source="EFO:0004237"} xref: MESH:D006111 {source="EFO:0004237", source="MONDO:equivalentTo", source="DOID:12361"} xref: MeSH:D006111 xref: MONDO:0005364 xref: NCIT:C3071 {source="EFO:0004237", source="MONDO:equivalentTo", source="DOID:12361"} xref: NCIt:C3071 xref: SCTID:353295004 {source="EFO:0004237", source="MONDO:equivalentTo", source="DOID:12361"} xref: SNOMEDCT:267374005 xref: SNOMEDCT:353295004 is_a: EFO:0004283 {source="MESH:D006111", source="NCIT:C3071"} ! goiter is_a: EFO:0006812 {source="EFO:0004237"} ! autoimmune thyroid disease is_a: MONDO:0001104 {source="https://emedicine.medscape.com/article/120140-overview"} ! toxic diffuse goiter property_value: exactMatch DOID:12361 property_value: exactMatch http://identifiers.org/mesh/D006111 property_value: exactMatch http://identifiers.org/snomedct/353295004 property_value: exactMatch NCIT:C3071 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6549/graves-disease xsd:anyURI {source="GARD:0006549"} [Term] id: EFO:0004238 name: hearing loss def: "A general term for the complete or partial loss of the ability to hear from one or both ears." [] def: "A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central." [NCIT:C35731] synonym: "deafness" NARROW [MONDO:cjm] synonym: "hearing impairment" EXACT [] synonym: "hearing impairment" RELATED [MESH:D034381] synonym: "hearing loss" EXACT [NCIT:C35731] synonym: "hearing loss disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "hypoacuses" EXACT [MESH:D034381] synonym: "hypoacusis" EXACT [MESH:D034381] synonym: "loss of hearing" EXACT [NCIT:C35731] synonym: "loss, hearing" EXACT [MESH:D034381] xref: ICD10:H91 xref: ICD10CM:H90 {source="MONDO:equivalentTo"} xref: ICD9:389 {source="EFO:0004238"} xref: ICD9:389.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:389.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10019246 xref: MESH:D034381 {source="MONDO:equivalentTo", source="EFO:0004238"} xref: MeSH:D034381 xref: MONDO:0005365 xref: NCIT:C35731 {source="MONDO:equivalentTo", source="EFO:0004238"} xref: NCIt:C35731 xref: SCTID:15188001 {source="MONDO:equivalentTo", source="EFO:0004238"} xref: SNOMEDCT:15188001 xref: UMLS:C1384666 {source="MONDO:equivalentTo"} is_a: MONDO:0021945 {source="MESH:D034381", source="MONDO:Redundant", source="NCIT:C35731/inferred"} ! hearing disorder property_value: exactMatch http://identifiers.org/mesh/D034381 property_value: exactMatch http://identifiers.org/snomedct/15188001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1384666 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H90 property_value: exactMatch NCIT:C35731 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004239 name: chronic hepatitis B virus infection def: "Chronic form of hepatitis B infection." [MONDO:patterns/chronic] def: "INFLAMMATION of the LIVER in humans caused by HEPATITIS B VIRUS lasting six months or more. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact." [] synonym: "CHB" EXACT [] synonym: "chronic Hepatitis B" EXACT [MESH:D019694] synonym: "chronic hepatitis B infection" EXACT [] synonym: "chronic hepatitis B virus infection" EXACT [] {comment="preferred label from MONDO"} synonym: "hepatitis B infection, chronic" EXACT [MONDO:patterns/chronic] synonym: "hepatitis B, chronic" EXACT [MONDO:patterns/chronic] xref: MedDRA:10008910 xref: MESH:D019694 {source="EFO:0004239", source="MONDO:equivalentTo"} xref: MeSH:D019694 xref: MONDO:0005366 xref: UMLS:C0524909 {source="MONDO:equivalentTo"} is_a: EFO:0004197 {source="EFO:0004239", source="MESH:D019694", source="MONDO:Redundant"} ! hepatitis B virus infection is_a: EFO:0009714 ! chronic disease relationship: has_modifier HP:0011010 ! Chronic property_value: exactMatch http://identifiers.org/mesh/D019694 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0524909 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004240 name: heroin dependence def: "Physical and psychological dependence on the drug heroin." [NCIT:P378] def: "Strong dependence, both physiological and emotional, upon heroin." [] synonym: "heroin abuse" EXACT [] synonym: "Heroin addiction" EXACT [NCIT:C34694] synonym: "heroin addiction" EXACT [] synonym: "heroin dependence" EXACT [] {comment="preferred label from MONDO"} xref: DOID:9976 {source="MONDO:equivalentTo", source="EFO:0004240"} xref: MESH:D006556 {source="DOID:9976", source="MONDO:equivalentTo", source="EFO:0004240"} xref: MeSH:D006556 xref: MONDO:0005367 xref: NCIT:C34694 {source="DOID:9976", source="MONDO:equivalentTo", source="EFO:0004240"} xref: NCIt:C34694 xref: SCTID:231477003 {source="DOID:9976", source="MONDO:equivalentTo", source="EFO:0004240"} xref: SNOMEDCT:231477003 xref: UMLS:CN236651 {source="MONDO:equivalentTo"} is_a: EFO:0005611 {source="DOID:9976", source="EFO:0004240", source="MESH:D006556"} ! opioid dependence property_value: exactMatch DOID:9976 property_value: exactMatch http://identifiers.org/mesh/D006556 property_value: exactMatch http://identifiers.org/snomedct/231477003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN236651 property_value: exactMatch NCIT:C34694 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004241 name: obsolete_Hirschsprung disease def: "Congenital MEGACOLON resulting from the absence of ganglion cells (aganglionosis) in a distal segment of the LARGE INTESTINE. The aganglionic segment is permanently contracted thus causing dilatation proximal to it. In most cases, the aganglionic segment is within the RECTUM and SIGMOID COLON." [] synonym: "colonic aganglionosis" EXACT [] synonym: "congenital megacolon" EXACT [] synonym: "Hirschsprung's disease" EXACT [] xref: MeSH:D006627 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_388' instead.\nNew Label : Hirschsprung disease" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_388 [Term] id: EFO:0004242 name: obsessive-compulsive disorder def: "A disorder characterized by the presence of persistent and recurrent irrational thoughts (obsessions), resulting in marked anxiety and repetitive excessive behaviors (compulsions) as a way to try to decrease that anxiety." [NCIT:P378] def: "An anxiety disorder characterized by recurrent, persistent obsessions or compulsions. Obsessions are the intrusive ideas, thoughts, or images that are experienced as senseless or repugnant. Compulsions are repetitive and seemingly purposeful behavior which the individual generally recognizes as senseless and from which the individual does not derive pleasure although it may provide a release from tension." [] synonym: "Anancastic neurosis" EXACT [DOID:10933] synonym: "obsessive compulsive disorder" EXACT [DOID:10933] synonym: "obsessive-compulsive disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "obsessive-compulsive disorder" EXACT [MONDO:Lexical, OMIM:164230] synonym: "obsessive-compulsive disorder, susceptibility to" EXACT [OMIM:164230, OMIM:genemap2] synonym: "OCD" EXACT [] synonym: "OCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:164230] xref: DOID:10933 {source="MONDO:equivalentTo", source="EFO:0004242"} xref: ICD10CM:F42 {source="DOID:10933", source="MONDO:equivalentTo"} xref: ICD9:300.3 {source="DOID:10933", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10029898 xref: MedDRA:10030029 xref: MESH:D009771 {source="DOID:10933", source="MONDO:equivalentTo", source="EFO:0004242"} xref: MeSH:D009771 xref: MONDO:0008114 xref: NCIT:C88411 {source="DOID:10933", source="MONDO:equivalentTo"} xref: OMIM:164230 {source="MONDO:equivalentTo"} xref: SCTID:191736004 {source="DOID:10933", source="MONDO:equivalentTo", source="EFO:0004242"} xref: SNOMEDCT:191736004 is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: EFO:0006788 {source="DOID:10933", source="MESH:D009771", source="NCIT:C88411"} ! anxiety disorder property_value: exactMatch DOID:10933 property_value: exactMatch http://identifiers.org/mesh/D009771 property_value: exactMatch http://identifiers.org/snomedct/191736004 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/F42 property_value: exactMatch https://omim.org/entry/164230 property_value: exactMatch NCIT:C88411 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: EFO:0004243 name: carcinoid tumor def: "A slow growing neuroendocrine tumor, composed of uniform, round, or polygonal cells having monotonous, centrally located nuclei and small nucleoli, infrequent mitoses, and no necrosis. The tumor may show a variety of patterns, such as solid, trabecular, and acinar. Electron microscopy shows small secretory granules. Immunohistochemical studies reveal NSE, as well as chromogranin immunoreactivity. Malignant histology (cellular pleomorphism, hyperchromatic nuclei, prominent nucleoli, necrosis, and mitoses) can occasionally be seen. Such cases may have an aggressive clinical course. Gastrointestinal tract and lung are common sites of involvement." [NCIT:C2915] comment: Editor note: In NCIT all carcinoid tumors are grade 1, but the name is sometimes used more broadly in other sources synonym: "carcinoid" EXACT [NCIT:C2915] synonym: "carcinoid tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "carcinoid tumor" EXACT [MONDO:ambiguous, NCIT:C2915] synonym: "carcinoid tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "carcinoid tumor (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "carcinoid tumour (disease)" EXACT OMO:0003005 [] synonym: "NET G1" EXACT [MONDO:cjm] synonym: "neuroendocrine neoplasm G1" EXACT [MONDO:cjm] synonym: "neuroendocrine tumor G1" EXACT [MONDO:cjm] synonym: "neuroendocrine tumour G1" EXACT OMO:0003005 [] xref: EFO:0004243 {source="MONDO:equivalentTo"} xref: GARD:0009316 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: HP:0100570 {source="MONDO:otherHierarchy"} xref: ICD9:209.60 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:209.60 {source="MONDO:equivalentTo", source="i2s"} xref: ICDO:8240/3 {source="NCIT:C2915"} xref: ICDO:8241/3 {source="NCIT:C2915"} xref: MESH:D002276 {source="EFO:0004243", source="MONDO:equivalentTo"} xref: MONDO:0005369 xref: NCIT:C2915 {source="EFO:0004243", source="MONDO:equivalentTo"} xref: OMIM:114900 xref: SCTID:443492008 {source="EFO:0004243", source="MONDO:equivalentTo"} is_a: EFO:1001901 {source="MESH:D002276", source="NCIT:C2915"} ! neuroendocrine neoplasm property_value: closeMatch http://identifiers.org/snomedct/81622000 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0007095 property_value: exactMatch http://identifiers.org/mesh/D002276 property_value: exactMatch http://identifiers.org/mesh/D002276 property_value: exactMatch http://identifiers.org/snomedct/443492008 property_value: exactMatch http://identifiers.org/snomedct/443492008 property_value: exactMatch NCIT:C2915 property_value: exactMatch NCIT:C2915 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000589 "carcinoid tumor (disease)" xsd:string [Term] id: EFO:0004244 name: interstitial lung disease def: "A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of PULMONARY ALVEOLI that extends to the interstitium and beyond leading to diffuse PULMONARY FIBROSIS. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features." [] def: "A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of pulmonary alveoli that extends to the interstitium and beyond leading to diffuse pulmonary fibrosis. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features." [MESH:D017563] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:182095"} synonym: "ILD" EXACT ABBREVIATION [DOID:3082, Orphanet:182095] synonym: "interstitial lung disease" EXACT [] {comment="preferred label from MONDO"} synonym: "interstitial lung disease" EXACT [MONDO:0005370] synonym: "lung disease, interstitial" EXACT [] synonym: "lung diseases, interstitial" EXACT [] xref: DOID:3082 {source="EFO:0004244", source="MONDO:equivalentTo"} xref: ICD10:J84 xref: ICD10CM:J80-J84 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: MedDRA:10022611 {source="Orphanet:182095", source="Orphanet:182095/e"} xref: MESH:D017563 {source="EFO:0004244", source="Orphanet:182095", source="MONDO:equivalentTo", source="Orphanet:182095/e", source="DOID:3082"} xref: MeSH:D017563 xref: MONDO:0015925 xref: NCIT:C164315 {source="MONDO:equivalentTo"} xref: OMIM:616414 xref: Orphanet:182095 {source="MONDO:equivalentTo"} xref: SCTID:233703007 {source="EFO:0004244", source="MONDO:equivalentTo", source="DOID:3082"} xref: SNOMEDCT:233703007 xref: UMLS:C0206062 {source="Orphanet:182095", source="MONDO:equivalentTo", source="Orphanet:182095/e", source="DOID:3082"} is_a: EFO:0003818 {source="DOID:3082", source="EFO:0004244", source="MESH:D017563", source="MONDO:Redundant"} ! lung disease relationship: EFO:0000784 UBERON:0002048 ! has_disease_location lung property_value: closeMatch http://identifiers.org/meddra/10022611 property_value: exactMatch DOID:3082 property_value: exactMatch http://identifiers.org/mesh/D017563 property_value: exactMatch http://identifiers.org/snomedct/233703007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206062 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/J80-J84 property_value: exactMatch NCIT:C164315 property_value: exactMatch Orphanet:182095 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004245 name: obsolete_iris def: "The most anterior portion of the uveal layer, separating the anterior chamber from the posterior. It consists of two layers - the stroma and the pigmented epithelium. Color of the iris depends on the amount of melanin in the stroma on reflection from the pigmented epithelium." [] xref: MeSH:D007498 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.38" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://purl.obolibrary.org/obo/UBERON_0001769" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001769 [Term] id: EFO:0004246 name: mucocutaneous lymph node syndrome def: "An acute, febrile, mucocutaneous condition accompanied by swelling of cervical lymph nodes in infants and young children. The principal symptoms are fever, congestion of the ocular conjunctivae, reddening of the lips and oral cavity, protuberance of tongue papillae, and edema or erythema of the extremities." [] def: "Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood." [Orphanet:2331] subset: ordo_disease {source="Orphanet:2331"} synonym: "acute febrile MCLS" EXACT [DOID:13378] synonym: "acute febrile mucocutaneous lymph node syndrome" EXACT [DOID:13378] synonym: "acute febrile mucocutaneous lymph node syndrome [MCLS]" EXACT [DOID:13378, ICD9CM:446.1] synonym: "infantile polyarteritis" RELATED [OMIM:611775] synonym: "infantile polyarteritis nodosa" EXACT [NCIT:C34825] synonym: "Kawasaki disease" EXACT [] synonym: "Kawasaki disease" RELATED [OMIM:611775] synonym: "Kawasaki syndrome" EXACT [] synonym: "Kawasaki syndrome" RELATED [GARD:0006816] synonym: "Kawasaki's disease" EXACT [DOID:13378] synonym: "Kd" RELATED [OMIM:611775] synonym: "MLNS" EXACT ABBREVIATION [DOID:13378] synonym: "mucocutaneous lymph node syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "mucocutaneous lymph node syndrome" EXACT [DOID:13378, OMIM:611775, Orphanet:2331] xref: DOID:13378 {source="EFO:0004246", source="MONDO:equivalentTo"} xref: ICD9:446.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13378"} xref: MedDRA:10023320 {source="Orphanet:2331", source="Orphanet:2331/e"} xref: MedDRA:10028083 xref: MESH:D009080 {source="EFO:0004246", source="MONDO:equivalentTo", source="DOID:13378"} xref: MeSH:D009080 xref: MONDO:0012727 xref: NCIT:C34825 {source="EFO:0004246", source="MONDO:equivalentTo", source="DOID:13378"} xref: NCIt:C34825 xref: OMIM:611775 {source="Orphanet:2331", source="EFO:0004246", source="MONDO:equivalentTo", source="Orphanet:2331/e", source="DOID:13378"} xref: Orphanet:2331 {source="MONDO:equivalentTo", source="OMIM:611775"} xref: SCTID:75053002 {source="MONDO:equivalentTo", source="DOID:13378"} xref: UMLS:C0026691 {source="Orphanet:2331", source="NCIT:C34825", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:611775", source="DOID:13378"} is_a: MONDO:0002052 {source="DOID:13378"} ! lymphadenitis is_a: MONDO:0015489 {source="Orphanet:2331"} ! predominantly medium-vessel vasculitis property_value: closeMatch http://identifiers.org/meddra/10023320 property_value: exactMatch DOID:13378 property_value: exactMatch http://identifiers.org/mesh/D009080 property_value: exactMatch http://identifiers.org/snomedct/75053002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026691 property_value: exactMatch https://omim.org/entry/611775 property_value: exactMatch NCIT:C34825 property_value: exactMatch Orphanet:2331 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004247 name: mood disorder def: "A cognitive disorder a disturbance in which the person's mood is hypothesized to be the main underlying feature." [Wikipedia:Mood_disorder] def: "Those disorders that have a disturbance in mood as their predominant feature." [] synonym: "affective disorders" EXACT [] synonym: "episodic mood disorder" NARROW [] synonym: "major mood disorders" EXACT [] synonym: "mood disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "mood disorders" EXACT [] xref: DOID:3324 {source="EFO:0004247", source="MONDO:equivalentTo"} xref: ICD10:F38 xref: ICD10CM:F30-F39 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="DOID:3324", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:296.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10079614 xref: MESH:D019964 {source="DOID:3324", source="EFO:0004247", source="MONDO:equivalentTo"} xref: MeSH:D019964 xref: MONDO:0005371 xref: NCIT:C92200 {source="DOID:3324", source="EFO:0004247", source="MONDO:equivalentTo"} xref: NCIt:C92200 xref: SCTID:46206005 {source="DOID:3324", source="EFO:0004247", source="MONDO:equivalentTo"} xref: SNOMEDCT:46206005 xref: UMLS:CN236678 {source="MONDO:equivalentTo"} is_a: EFO:0000677 {source="EFO:0004247", source="ICD10CM:F30-F39"} ! mental or behavioural disorder property_value: exactMatch DOID:3324 property_value: exactMatch http://identifiers.org/mesh/D019964 property_value: exactMatch http://identifiers.org/snomedct/46206005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN236678 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/F30-F39 property_value: exactMatch NCIT:C92200 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004248 name: male infertility def: "The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility." [] def: "The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility." [MESH:D007248] synonym: "infertility disorder of male reproductive system" EXACT [MONDO:design_pattern] synonym: "infertility, male" EXACT [] synonym: "male infertility" EXACT [] {comment="preferred label from MONDO"} synonym: "male reproductive system infertility" EXACT [MONDO:patterns/location] synonym: "male reproductive system infertility disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "male sterility" EXACT [] synonym: "sterility, male" EXACT [] xref: DOID:12336 {source="EFO:0004248", source="MONDO:equivalentTo"} xref: ICD10:N46 xref: ICD10CM:N46 {source="DOID:12336", source="MONDO:equivalentTo"} xref: ICD9:606 {source="DOID:12336", source="EFO:0004248", source="MONDO:equivalentTo"} xref: ICD9:606.9 {source="DOID:12336", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10025511 xref: MESH:D007248 {source="DOID:12336", source="EFO:0004248", source="MONDO:equivalentTo"} xref: MeSH:D007248 xref: MONDO:0005372 xref: SCTID:2904007 {source="DOID:12336", source="EFO:0004248", source="MONDO:equivalentTo"} xref: SNOMEDCT:2904007 xref: UMLS:C0021364 {source="DOID:12336", source="MONDO:equivalentTo"} is_a: EFO:0000545 {source="EFO:0004248", source="MESH:D007248", source="MONDO:Entailed", source="MONDO:Redundant"} ! infertility is_a: EFO:0009555 {source="DOID:12336", source="ICD10CM:N46", source="MESH:D007248/inferred", source="MONDO:Redundant"} ! male reproductive system disease property_value: exactMatch DOID:12336 property_value: exactMatch http://identifiers.org/mesh/D007248 property_value: exactMatch http://identifiers.org/snomedct/2904007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0021364 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/N46 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004249 name: meningococcal infection def: "Infections with bacteria of the species NEISSERIA MENINGITIDIS." [] def: "Infections with bacteria of the species neisseria meningitidis." [MESH:D008589] subset: gard_rare {source="GARD:0009547"} synonym: "infections, meningococcal" EXACT [] synonym: "infections, Neisseria meningitidis" RELATED [MONDO:patterns/infectious_disease_by_agent] synonym: "meningococcal disease" EXACT [] synonym: "meningococcal disease" RELATED [GARD:0007169] synonym: "meningococcal infection" EXACT [] {comment="preferred label from MONDO"} synonym: "meningococcal infections" EXACT [] synonym: "Neisseria meningitidis infection" EXACT [MONDO:patterns/infectious_disease_by_agent] xref: ICD10:A39 xref: ICD10CM:A39 {source="MONDO:equivalentTo"} xref: ICD9:036 {source="EFO:0004249"} xref: ICD9:036.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:036.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10027274 xref: MedDRA:10027275 xref: MESH:D008589 {source="MONDO:equivalentTo", source="EFO:0004249"} xref: MeSH:D008589 xref: MONDO:0005373 xref: SCTID:23511006 {source="MONDO:equivalentTo"} xref: UMLS:C0025303 {source="GARD:0009547", source="MONDO:equivalentTo"} is_a: EFO:0000771 {source="EFO:0004249", source="MESH:D008589/inferred", source="MONDO:Redundant"} ! bacterial disease relationship: RO:0000057 NCBITaxon:487 ! has_participant Neisseria meningitidis property_value: exactMatch http://identifiers.org/mesh/D008589 property_value: exactMatch http://identifiers.org/snomedct/23511006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025303 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A39 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9547/meningococcal-infection xsd:anyURI {source="GARD:0009547"} [Term] id: EFO:0004250 name: obsolete_Moyamoya disease def: "A noninflammatory, progressive occlusion of the intracranial CAROTID ARTERIES and the formation of netlike collateral arteries arising from the CIRCLE OF WILLIS. Cerebral angiogram shows the puff-of-smoke (moyamoya) collaterals at the base of the brain. It is characterized by endothelial HYPERPLASIA and FIBROSIS with thickening of arterial walls. This disease primarily affects children but can also occur in adults." [] synonym: "cerebrovascular Moyamoya disease" EXACT [] synonym: "Moya-Moya disease" EXACT [] synonym: "Moyamoya syndrome" EXACT [] synonym: "progressive intracranial occlusive arteropathy (Moyamoya)" EXACT [] xref: MeSH:D009072 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_2573' instead.\nNew Label : Moyamoya disease" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_2573 [Term] id: EFO:0004251 name: myeloproliferative disorder def: "A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. It is primarily a neoplasm of adults. (WHO 2008)" [NCIT:C4345] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98274"} synonym: "chronic myeloproliferative disease" EXACT [DOID:2226, NCIT:C4345] synonym: "chronic myeloproliferative disorder" EXACT [MONDO:0005171, NCIT:C4345] synonym: "chronic myeloproliferative disorders" RELATED [GARD:0009319] synonym: "chronic myeloproliferative neoplasm" EXACT [NCIT:C4345] synonym: "CMPD" EXACT ABBREVIATION [DOID:2226, NCIT:C4345] synonym: "CMPD, U" EXACT [DOID:2226, NCIT:C27350] synonym: "MPD" EXACT ABBREVIATION [NCIT:C4345, Orphanet:98274] synonym: "MPN" EXACT ABBREVIATION [NCIT:C4345, ONCOTREE:MPN, Orphanet:98274] synonym: "myeloproliferative disorder" EXACT [NCIT:C4345, Orphanet:98274] synonym: "myeloproliferative neoplasm" EXACT [NCIT:C4345] synonym: "myeloproliferative neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "myeloproliferative neoplasm, chronic" EXACT [MONDO:patterns/chronic] synonym: "myeloproliferative neoplasms" RELATED [ONCOTREE:MPN] synonym: "myeloproliferative tumor" EXACT [NCIT:C4345] xref: DOID:2226 {source="MONDO:equivalentTo"} xref: EFO:0002428 {source="MONDO:equivalentTo"} xref: EFO:0004251 {source="DOID:4960", source="MONDO:equivalentTo"} xref: GARD:0009319 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: ICD10:D47.1 {source="DOID:2226"} xref: ICD9:238.79 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9960/3 {source="NCIT:C4345"} xref: ICDO:9975/1 {source="NCIT:C4345"} xref: MedDRA:10028576 {source="ORDO:98274/e", source="Orphanet:98274"} xref: NCIT:C4345 {source="DOID:2226", source="MONDO:equivalentTo", source="EFO:0004251"} xref: ONCOTREE:MPN {source="MONDO:equivalentTo"} xref: Orphanet:98274 {source="MONDO:equivalentTo"} xref: SCTID:425333006 {source="MONDO:equivalentTo"} xref: UMLS:C1292778 {source="DOID:2226", source="MONDO:equivalentTo", source="ORDO:98274/e", source="NCIT:C4345", source="Orphanet:98274"} is_a: EFO:0002427 ! myeloid neoplasm is_a: MONDO:0004992 ! cancer is_a: Orphanet:322126 ! Genetic tumor of hematopoietic and lymphoid tissues property_value: closeMatch http://identifiers.org/snomedct/109993000 property_value: closeMatch http://identifiers.org/snomedct/115248004 property_value: closeMatch http://identifiers.org/snomedct/128842008 property_value: closeMatch http://identifiers.org/snomedct/20921005 property_value: exactMatch DOID:2226 property_value: exactMatch http://identifiers.org/meddra/10028576 property_value: exactMatch http://identifiers.org/mesh/D009196 property_value: exactMatch http://identifiers.org/snomedct/425333006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027022 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1292778 property_value: exactMatch NCIT:C103126 property_value: exactMatch NCIT:C4345 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004252 name: nasopharyngeal neoplasm alt_id: MONDO:0021362 def: "A benign or malignant neoplasm affecting the nasopharynx. Representative examples of benign neoplasms include angiofibroma and squamous papilloma. Representative examples of malignant neoplasms include keratinizing squamous cell carcinoma and nonkeratinizing carcinoma." [NCIT:C3257] synonym: "nasopharyngeal neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "nasopharyngeal neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "nasopharyngeal neoplasms" EXACT [NCIT:C3257] synonym: "nasopharyngeal tumor" EXACT [NCIT:C3257] synonym: "nasopharyngeal tumour" EXACT OMO:0003005 [] synonym: "nasopharynx neoplasm" EXACT [] synonym: "nasopharynx neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "nasopharynx tumor" EXACT [MONDO:patterns/neoplasm] synonym: "nasopharynx tumour" EXACT OMO:0003005 [] synonym: "neoplasm of nasopharynx" EXACT [MONDO:patterns/neoplasm, NCIT:C3257] synonym: "neoplasm of the nasopharynx" EXACT [NCIT:C3257] synonym: "tumor of nasopharynx" EXACT [MONDO:patterns/neoplasm, NCIT:C3257] synonym: "tumor of the nasopharynx" EXACT [NCIT:C3257] synonym: "tumour of nasopharynx" EXACT OMO:0003005 [] synonym: "tumour of the nasopharynx" EXACT OMO:0003005 [] xref: EFO:0004252 {source="MONDO:equivalentTo"} xref: MESH:D009303 {source="MONDO:equivalentTo", source="EFO:0004252"} xref: MONDO:0005375 xref: NCIT:C3257 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:0004252"} xref: NCIT:C3257 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:0004252"} xref: OMIM:617075 xref: SCTID:126680004 {source="MONDO:equivalentTo"} xref: UMLS:C0027439 {source="MONDO:equivalentTo", source="NCIT:C3257"} is_a: EFO:0003853 ! respiratory system neoplasm is_a: EFO:0005950 ! head and neck neoplasia is_a: MONDO:0004821 {source="MESH:D009303", source="MONDO:Redundant", source="NCIT:C3257"} ! nasopharyngeal disorder is_a: MONDO:0021246 {source="MONDO:Redundant", source="NCIT:C3257"} ! pharynx neoplasm property_value: closeMatch http://identifiers.org/snomedct/449248000 property_value: exactMatch http://identifiers.org/mesh/D009303 property_value: exactMatch http://identifiers.org/mesh/D009303 property_value: exactMatch http://identifiers.org/snomedct/126680004 property_value: exactMatch http://identifiers.org/snomedct/126680004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027439 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027439 property_value: exactMatch NCIT:C3257 property_value: exactMatch NCIT:C3257 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/neoplasm.yaml [Term] id: EFO:0004253 name: nephrolithiasis def: "Formation of stones in the KIDNEY." [] def: "Stones in the KIDNEY, usually formed in the urine-collecting area of the kidney (KIDNEY PELVIS). Their sizes vary and most contains CALCIUM OXALATE." [] def: "The presence of a calculus in the pelvis of the kidney; this is most often composed of mineral salts and proteins." [NCIT:P378] synonym: "Calculi, Kidney" EXACT [] synonym: "Calculi, Renal" EXACT [] synonym: "calculus of kidney and ureter" EXACT [DOID:585] synonym: "Calculus, Kidney" EXACT [] synonym: "Calculus, Renal" EXACT [] synonym: "CAON" RELATED ABBREVIATION [OMIM:167030] synonym: "Kidney Calculi" EXACT [] synonym: "Kidney Calculus" EXACT [] synonym: "kidney stone" EXACT [NCIT:C114667] synonym: "Kidney Stones" EXACT [] synonym: "Kidney stones" EXACT [] synonym: "kidney stones" EXACT [DOID:585] synonym: "nephrolithiasis" EXACT [] {comment="preferred label from MONDO"} synonym: "nephrolithiasis, calcium oxalate" RELATED [DOID:585, OMIM:167030] synonym: "Renal Calculi" EXACT [] synonym: "Renal calculi" EXACT [] synonym: "renal calculi" EXACT [NCIT:C114667] synonym: "Renal Calculus" EXACT [] synonym: "Renal stones" EXACT [] synonym: "Stone - kidney/ureter" EXACT [DOID:585] synonym: "Stone, Kidney" EXACT [] synonym: "Stones, Kidney" EXACT [] synonym: "urolithiasis, calcium oxalate" RELATED [DOID:585, OMIM:167030] xref: DOID:585 {source="MONDO:equivalentTo", source="EFO:0004253"} xref: EFO:0003845 {source="MONDO:equivalentObsolete"} xref: ICD10:N20 xref: ICD9:592 {source="DOID:585"} xref: MedDRA:10023436 xref: MedDRA:10023437 xref: MedDRA:10029148 xref: MeSH:D007669 xref: MESH:D053040 {source="MONDO:equivalentTo", source="EFO:0004253"} xref: MeSH:D053040 xref: MONDO:0008171 xref: NCIT:C114667 {source="MONDO:equivalentTo", source="EFO:0004253"} xref: NCIt:C114667 xref: OMIM:167030 xref: OMIM:605990 xref: SCTID:266556005 {source="MONDO:equivalentTo", source="DOID:585"} xref: SNOMEDCT:95570007 xref: UMLS:C0156257 {source="MONDO:equivalentTo", source="DOID:585"} xref: UMLS:C0392525 {source="MONDO:equivalentTo", source="NCIT:C114667"} is_a: EFO:0003086 {source="DOID:585", source="EFO:0004253", source="MESH:D053040", source="NCIT:C114667/inferred"} ! kidney disease is_a: MONDO:0024647 {source="https://github.com/monarch-initiative/mondo/issues/11"} ! urolithiasis property_value: exactMatch DOID:585 property_value: exactMatch http://identifiers.org/mesh/D053040 property_value: exactMatch http://identifiers.org/snomedct/266556005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156257 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0392525 property_value: exactMatch NCIT:C114667 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000117 "Gautier Koscielny" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0004254 name: membranous glomerulonephritis def: "A slowly progressive inflammation of the glomeruli characterized by immune complex deposits at the glomerular basement membrane, resulting in a thickened membrane, and nephrotic syndrome." [NCIT:C34645] def: "A type of glomerulonephritis that is characterized by the accumulation of immune deposits ( COMPLEMENT MEMBRANE ATTACK COMPLEX) on the outer aspect of the GLOMERULAR BASEMENT MEMBRANE. It progresses from subepithelial dense deposits, to basement membrane reaction and eventual thickening of the basement membrane." [] synonym: "glomerulonephritis, membranous" EXACT [] synonym: "Heymann nephritis" EXACT [] synonym: "idiopathic membranous nephropathy" EXACT [] synonym: "membranous glomerulonephritis" EXACT [] {comment="preferred label from MONDO"} synonym: "membranous Glomerulonephropathy" EXACT [NCIT:C34645] synonym: "membranous glomerulonephropathy" EXACT [] synonym: "membranous nephropathy" EXACT [DOID:10976] synonym: "nephropathy (idiopathic membranous)" EXACT [] xref: DOID:10976 {source="EFO:0004254", source="MONDO:equivalentTo"} xref: ICD9:582.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:583.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D015433 {source="EFO:0004254", source="DOID:10976", source="MONDO:equivalentTo"} xref: MeSH:D015433 xref: MONDO:0005376 xref: NCIT:C34645 {source="EFO:0004254", source="DOID:10976", source="MONDO:equivalentTo"} xref: NCIt:C34645 xref: SCTID:77182004 {source="EFO:0004254", source="DOID:10976", source="MONDO:equivalentTo"} xref: SNOMEDCT:77182004 xref: UMLS:C0017665 {source="DOID:10976", source="MONDO:equivalentTo", source="NCIT:C34645"} is_a: MONDO:0002462 {source="DOID:10976", source="MESH:D015433", source="NCIT:C34645"} ! glomerulonephritis property_value: exactMatch DOID:10976 property_value: exactMatch http://identifiers.org/mesh/D015433 property_value: exactMatch http://identifiers.org/snomedct/77182004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017665 property_value: exactMatch NCIT:C34645 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004255 name: nephrotic syndrome def: "A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction." [NCIT:C34845] def: "A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction." [] synonym: "nephrosis" RELATED [NCIT:C34845] synonym: "nephrotic syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "nephrotic syndrome" EXACT [NCIT:C34845] synonym: "nephrotic syndrome (acquired)" EXACT [] synonym: "nephrotic syndromes" EXACT [MESH:D009404] synonym: "syndrome, nephrotic" EXACT [MESH:D009404] synonym: "syndromes, nephrotic" EXACT [MESH:D009404] xref: DOID:1184 {source="EFO:0004255", source="MONDO:equivalentTo"} xref: ICD10:N04 xref: ICD9:581 {source="EFO:0004255", source="DOID:1184"} xref: ICD9:581.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10029164 xref: MESH:D009404 {source="EFO:0004255", source="MONDO:equivalentTo", source="DOID:1184"} xref: MeSH:D009404 xref: MONDO:0005377 xref: NCIT:C34845 {source="EFO:0004255", source="MONDO:equivalentTo", source="DOID:1184"} xref: NCIt:C34845 xref: OMIM:615861 xref: OMIM:617783 xref: OMIM:618176 xref: OMIM:618177 xref: OMIM:618178 xref: OMIM:618594 xref: Orphanet:564127 {source="MONDO:mondoIsBroaderThanSource"} xref: SCTID:52254009 {source="EFO:0004255", source="MONDO:equivalentTo", source="DOID:1184"} xref: SNOMEDCT:52254009 xref: UMLS:C0027726 {source="MONDO:equivalentTo", source="DOID:1184", source="NCIT:C34845"} is_a: MONDO:0002254 {source="NCIT:C34845"} ! syndromic disease is_a: MONDO:0002331 {source="DOID:1184", source="MESH:D009404"} ! nephrosis property_value: exactMatch DOID:1184 property_value: exactMatch http://identifiers.org/mesh/D009404 property_value: exactMatch http://identifiers.org/snomedct/52254009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027726 property_value: exactMatch NCIT:C34845 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: narrowMatch Orphanet:564127 [Term] id: EFO:0004256 name: neuromyelitis optica def: "A rare inflammatory disease of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis." [Orphanet:71211] def: "A syndrome characterized by acute OPTIC NEURITIS in combination with acute MYELITIS, TRANSVERSE. Demyelinating and/or necrotizing lesions form in one or both optic nerves and in the spinal cord. The onset of optic neuritis and myelitis may be simultaneous or separated by several months. (J Neurol Neurosurg Psychiatry 1996 Apr;60(4):382-387)." [] subset: gard_rare {source="GARD:0006267"} subset: ordo_disease {source="Orphanet:71211"} synonym: "Devic disease" EXACT [Orphanet:71211] synonym: "Devic syndrome" EXACT [] synonym: "Devic syndrome" RELATED [GARD:0006267] synonym: "Devic's disease" EXACT [DOID:8869, ICD10CM:G36.0] synonym: "Devic's neuromyelitis optica" RELATED [GARD:0006267] synonym: "Devic's syndrome" EXACT [DOID:8869] synonym: "neuromyelitis optica" EXACT [] {comment="preferred label from MONDO"} synonym: "NMO" RELATED ABBREVIATION [GARD:0006267] xref: DOID:8869 {source="EFO:0004256", source="MONDO:equivalentTo"} xref: ICD9:341.0 {source="EFO:0004256", source="MONDO:equivalentTo", source="DOID:8869", source="MONDO:i2s"} xref: MedDRA:10029322 {source="Orphanet:71211", source="Orphanet:71211/e"} xref: MESH:D009471 {source="EFO:0004256", source="Orphanet:71211", source="MONDO:equivalentTo", source="DOID:8869", source="Orphanet:71211/e"} xref: MeSH:D009471 xref: MONDO:0019100 xref: NCIT:C84934 {source="EFO:0004256", source="MONDO:equivalentTo", source="DOID:8869"} xref: NCIt:C84934 xref: Orphanet:71211 {source="MONDO:equivalentTo"} xref: SCTID:25044007 {source="EFO:0004256", source="MONDO:equivalentTo", source="DOID:8869"} xref: SNOMEDCT:25044007 xref: UMLS:C0027873 {source="NCIT:C84934", source="Orphanet:71211", source="MONDO:equivalentTo", source="DOID:8869", source="Orphanet:71211/e"} is_a: EFO:0000618 {source="GARD:0006267", source="https://orcid.org/0000-0001-5208-3432"} ! nervous system disease is_a: MONDO:0005301 ! multiple sclerosis is_a: MONDO:0044685 {source="Orphanet:71211", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune/inflammatory optic neuropathy relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120"} ! rare property_value: closeMatch http://identifiers.org/meddra/10029322 property_value: exactMatch DOID:8869 property_value: exactMatch http://identifiers.org/mesh/D009471 property_value: exactMatch http://identifiers.org/snomedct/25044007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027873 property_value: exactMatch NCIT:C84934 property_value: exactMatch Orphanet:71211 property_value: excluded_subClassOf MONDO:0005301 {source="EFO:0004256"} property_value: excluded_subClassOf MONDO:0016428 {source="Orphanet:71211"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6267/neuromyelitis-optica xsd:anyURI {source="GARD:0006267"} [Term] id: EFO:0004257 name: neurotic disorder def: "A form of functional mental illness that manifests in distressed emotional reactions such as anxiety, obsessive thoughts, compulsive behaviors, or irrational fears." [NCIT:C34848] def: "Disorders in which the symptoms are distressing to the individual and recognized by him or her as being unacceptable. Social relationships may be greatly affected but usually remain within acceptable limits. The disturbance is relatively enduring or recurrent without treatment." [] synonym: "depressive neurosis" NARROW [DOID:4964, MTH:NOCODE] synonym: "disorder, neurotic" RELATED [MESH:D009497] synonym: "disorders, neurotic" RELATED [MESH:D009497] synonym: "neuroses" EXACT [] synonym: "neuroses" RELATED [MESH:D009497] synonym: "neurosis" EXACT [DOID:4964, NCIT:C34848] synonym: "neurotic depression" NARROW [DOID:4964] synonym: "neurotic depression reactive type" NARROW [DOID:4964] synonym: "neurotic depressive state" NARROW [DOID:4964] synonym: "neurotic disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "neurotic disorder" EXACT [MESH:D009497] synonym: "neurotic disorders" EXACT [] synonym: "neuroticism" EXACT [] synonym: "Psychoneuroses" RELATED [MESH:D009497] synonym: "psychoneurosis" EXACT [DOID:4964] synonym: "psychoneurosis NOS" NARROW [DOID:4964] synonym: "reactive depression" NARROW [DOID:4964] xref: DOID:4964 {source="EFO:0004257", source="MONDO:equivalentTo"} xref: ICD10CM:F34.1 {source="MONDO:relatedTo", source="DOID:4964"} xref: ICD9:300.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:300.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MeSH:C564323 xref: MESH:D000275 {source="DOID:4964", source="MONDO:directSiblingOf"} xref: MESH:D003866 {source="MONDO:relatedTo", source="DOID:4964"} xref: MESH:D009497 {source="EFO:0004257", source="MONDO:equivalentTo", source="DOID:4964"} xref: MeSH:D009497 xref: MONDO:0005379 xref: NCIT:C34848 {source="MONDO:equivalentTo", source="DOID:4964"} xref: NCIT:C35369 {source="MONDO:relatedTo", source="DOID:4964"} xref: SCTID:111475002 {source="MONDO:equivalentTo", source="DOID:4964"} xref: SCTID:78667006 {source="MONDO:relatedTo", source="DOID:4964"} is_a: EFO:0006788 {source="DOID:4964", source="MESH:D009497", source="NCIT:C34848"} ! anxiety disorder property_value: exactMatch DOID:4964 property_value: exactMatch http://identifiers.org/mesh/D009497 property_value: exactMatch http://identifiers.org/snomedct/111475002 property_value: exactMatch NCIT:C34848 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004258 name: obsolete_optic nerve property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00001956 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00001956 [Term] id: EFO:0004259 name: osteonecrosis def: "A none disease characterized by death of bone tissue due to a lack of blood supply." [https://www.mayoclinic.org/diseases-conditions/avascular-necrosis/symptoms-causes/syc-20369859] def: "Death of a bone or part of a bone, either atraumatic or posttraumatic." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:399158"} synonym: "aseptic necrosis" EXACT [DOID:10159] synonym: "aseptic necrosis of bone" EXACT [] synonym: "avascular necrosis of bone" EXACT [] synonym: "bone necrosis" EXACT [DOID:10159, NCIT:C34880, Orphanet:399158] synonym: "ischaemic bone disease" EXACT OMO:0003005 [] synonym: "ischemic bone disease" EXACT [MONDO:0000835] synonym: "osteonecrosis" EXACT [NCIT:C34880] synonym: "osteonecrosis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0080008 {source="MONDO:equivalentTo"} xref: DOID:10159 {source="EFO:0004259", source="MONDO:equivalentTo"} xref: ICD10:M87 xref: ICD10CM:M87 {source="DOID:10159", source="MONDO:equivalentTo"} xref: ICD9:732.3 {source="DOID:10159"} xref: ICD9:733.4 {source="EFO:0004259"} xref: ICD9:733.41 {source="DOID:10159"} xref: ICD9:733.42 {source="DOID:10159"} xref: ICD9:733.43 {source="DOID:10159"} xref: ICD9:733.44 {source="DOID:10159"} xref: ICD9:733.49 {source="DOID:10159"} xref: MedDRA:10031264 xref: MESH:D010020 {source="DOID:10159", source="EFO:0004259", source="MONDO:equivalentTo"} xref: MeSH:D010020 xref: MONDO:0005380 xref: NCIt:C34841 xref: NCIT:C34880 {source="DOID:10159", source="MONDO:equivalentTo"} xref: NCIT:C35476 {source="EFO:0004259", source="MONDO:equivalentTo"} xref: NCIt:C35476 xref: Orphanet:399158 {source="MONDO:equivalentTo"} xref: SCTID:240196003 {source="DOID:10159", source="MONDO:equivalentTo"} xref: SNOMEDCT:397758007 xref: SNOMEDCT:398199007 is_a: EFO:0004260 {source="MONDO:Redundant", source="Orphanet:399158"} ! bone disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0019684"} ! rare property_value: exactMatch DOID:0080008 property_value: exactMatch DOID:10159 property_value: exactMatch http://identifiers.org/mesh/D010020 property_value: exactMatch http://identifiers.org/snomedct/240196003 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/M87 property_value: exactMatch NCIT:C34880 property_value: exactMatch NCIT:C35476 property_value: exactMatch Orphanet:399158 property_value: excluded_subClassOf MONDO:0015940 {source="Orphanet:399158"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004260 name: bone disease def: "Diseases of BONES." [] def: "Diseases of bones." [MESH:D001847] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:364803"} synonym: "bone disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "bone element disease" EXACT [MONDO:patterns/location] synonym: "bone element disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "disease of bone element" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of bone element" EXACT [] synonym: "disorder of bone element" EXACT [MONDO:patterns/location_top] synonym: "rare bone disease related to a common gene or pathway defect" RELATED [Orphanet:364803] synonym: "skeletal disease" RELATED [DOID:0080001] xref: DOID:0080001 {source="MONDO:equivalentTo", source="EFO:0004260"} xref: ICD10:M46 xref: ICD10:M48 xref: ICD10:M49 xref: ICD10:M84 xref: ICD10:M89 xref: ICD10:M90 xref: ICD10CM:M80-M85 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:731.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:733.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D001847 {source="DOID:0080001", source="MONDO:equivalentTo"} xref: MONDO:0005381 xref: Orphanet:364803 {source="MONDO:relatedTo"} xref: SCTID:76069003 {source="DOID:0080001", source="MONDO:equivalentTo"} xref: UMLS:C0005940 {source="DOID:0080001", source="MONDO:equivalentTo"} xref: UMLS:CN204768 {source="MONDO:equivalentObsolete"} is_a: EFO:0002461 {source="EFO:0004260", source="MONDO:Redundant"} ! skeletal system disease relationship: EFO:0000784 UBERON:0001474 ! has_disease_location bone element property_value: exactMatch DOID:0080001 property_value: exactMatch http://identifiers.org/mesh/D001847 property_value: exactMatch http://identifiers.org/snomedct/76069003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005940 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/M80-M85 property_value: excluded_subClassOf MONDO:0003900 {source="DOID:0080001"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004261 name: osteitis deformans def: "A disease marked by repeated episodes of increased bone resorption followed by excessive attempts at repair, resulting in weakened, deformed bones of increased mass. The resultant architecture of the bone assumes a mosaic pattern in which the fibers take on a haphazard pattern instead of the normal parallel symmetry." [] def: "A disease of bone that initially results in the excessive resorption of bone (by osteoclasts) followed by the replacement of normal bone marrow with vascular and fibrous tissue." [NCIT:C3292] synonym: "bone Paget disease" EXACT [] {comment="preferred label from MONDO"} synonym: "bone Paget disease" EXACT [NCIT:C3292] synonym: "bone Paget's disease" EXACT [NCIT:C3292] synonym: "familial Paget's disease of bone" RELATED [DOID:5408, MESH:C538098] synonym: "osseous Paget's disease" EXACT [DOID:5408, NCIT:C3292] synonym: "osteitis deformans" EXACT [DOID:5408, NCIT:C3292, Orphanet:280110] synonym: "Paget disease (bone)" EXACT [] synonym: "Paget disease of bone" EXACT [DOID:5408, NCIT:C3292] synonym: "Paget's bone disease" EXACT [DOID:5408, MTH:547] synonym: "Paget's disease" RELATED [NCIT:C3292] synonym: "Paget's disease (bone)" EXACT [] synonym: "Paget's disease of bone" EXACT [NCIT:C3292] synonym: "Paget's disease of the bone" EXACT [NCIT:C3292] synonym: "Pagets disease (bone)" EXACT [NCIT:C3292] xref: DOID:5408 {source="MONDO:equivalentTo"} xref: ICD10:M88 xref: MedDRA:10031151 xref: MeSH:D010001 xref: MONDO:0005382 xref: NCIT:C3292 {source="MONDO:equivalentTo", source="DOID:5408"} xref: OMIM:167250 xref: OMIM:602080 xref: OMIM:616833 xref: OMIMPS:167250 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:280110 {source="MONDO:equivalentObsolete", source="DOID:5408"} xref: SCTID:2089002 {source="MONDO:equivalentTo", source="DOID:5408", source="EFO:0004261"} xref: SNOMEDCT:2089002 xref: UMLS:C0029401 {source="NCIT:C3292", source="MONDO:equivalentTo", source="DOID:5408"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0002185 {source="DOID:5408"} ! hyperostosis property_value: exactMatch DOID:5408 property_value: exactMatch http://identifiers.org/snomedct/2089002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029401 property_value: exactMatch https://omim.org/phenotypicSeries/PS167250 property_value: exactMatch NCIT:C3292 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004262 name: panic disorder def: "A type of anxiety disorder characterized by unexpected panic attacks that last minutes or, rarely, hours. Panic attacks begin with intense apprehension, fear or terror and, often, a feeling of impending doom. Symptoms experienced during a panic attack include dyspnea or sensations of being smothered; dizziness, loss of balance or faintness; choking sensations; palpitations or accelerated heart rate; shakiness; sweating; nausea or other form of abdominal distress; depersonalization or derealization; paresthesias; hot flashes or chills; chest discomfort or pain; fear of dying and fear of not being in control of oneself or going crazy. Agoraphobia may also develop. Similar to other anxiety disorders, it may be inherited as an autosomal dominant trait." [] def: "An anxiety disorder characterized by multiple unexpected panic attacks with persistent concern of recurring attacks. Panic disorder may or may not be accompanied by agoraphobia." [NCIT:P378] synonym: "panic anxiety syndrome" EXACT [DOID:594] synonym: "panic attack" EXACT [] synonym: "panic attacks" EXACT [] synonym: "panic disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "panic disorder syndrome" EXACT [] synonym: "panic syndrome" EXACT [] xref: DOID:594 {source="MONDO:equivalentTo", source="EFO:0004262"} xref: ICD9:300.01 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10033666 xref: MESH:D016584 {source="MONDO:equivalentTo", source="DOID:594", source="EFO:0004262"} xref: MeSH:D016584 xref: MONDO:0005383 xref: NCIT:C34890 {source="MONDO:equivalentTo", source="DOID:594", source="EFO:0004262"} xref: NCIt:C34890 xref: SCTID:371631005 {source="MONDO:equivalentTo", source="DOID:594", source="EFO:0004262"} xref: SNOMEDCT:371631005 xref: UMLS:C0030319 xref: UMLS:CN240645 {source="MONDO:equivalentTo"} xref: Wikipedia:Panic_disorder is_a: EFO:0006788 {source="DOID:594", source="EFO:0004262", source="MESH:D016584", source="NCIT:C34890"} ! anxiety disorder property_value: exactMatch DOID:594 property_value: exactMatch http://identifiers.org/mesh/D016584 property_value: exactMatch http://identifiers.org/snomedct/371631005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN240645 property_value: exactMatch NCIT:C34890 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:0004263 name: partial epilepsy def: "A seizure caused by a localized disorder." [NCIT:P378] def: "Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317)." [] comment: The updated term for partial epilepsy is now focal epilepsy, according to the International League Against Epilepsy Nosology and Definitions Taskforce [PMID:35503725, PMID:28276062]. synonym: "epilepsies, partial" EXACT [] synonym: "focal epilepsy" EXACT [DOID:2234, https://clinicalgenome.org/affiliation/40005/] synonym: "focal epilepsy" EXACT [] {comment="preferred label from MONDO"} synonym: "localisation-related epilepsy" EXACT [DOID:2234] synonym: "partial epilepsies" EXACT [] synonym: "partial epilepsy" EXACT [DOID:2234] xref: DOID:2234 {source="MONDO:equivalentTo", source="EFO:0004263"} xref: ICD9:345.50 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10034058 xref: MedDRA:10034059 xref: MedDRA:10034060 xref: MedDRA:10034061 xref: MedDRA:10034062 xref: MedDRA:10034063 xref: MedDRA:10034064 xref: MedDRA:10065336 xref: MESH:D004828 {source="DOID:2234", source="MONDO:equivalentTo", source="EFO:0004263"} xref: MeSH:D004828 xref: MONDO:0005384 xref: NCIT:C122812 {source="DOID:2234", source="MONDO:equivalentTo"} xref: SCTID:230381009 {source="DOID:2234", source="MONDO:equivalentTo"} xref: UMLS:C0014547 {source="NCIT:C122812", source="DOID:2234", source="MONDO:equivalentTo"} is_a: EFO:0000474 {source="DOID:2234", source="EFO:0004263", source="MESH:D004828", source="NCIT:C122812"} ! epilepsy property_value: exactMatch DOID:2234 property_value: exactMatch http://identifiers.org/mesh/D004828 property_value: exactMatch http://identifiers.org/snomedct/230381009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014547 property_value: exactMatch NCIT:C122812 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5564 xsd:anyURI [Term] id: EFO:0004264 name: vascular disease def: "A general term used to describe any disease affecting blood vessels]. It includes vascular abnormalities caused by degenerative, metabolic and inflammatory conditions, embolic diseases, coagulative disorders, and functional disorders such as posteri or reversible encephalopathy syndrome." [https://doi.org/10.1007/978-3-540-78785-3_7] def: "Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." [] comment: The etiology of vasculopathy is generally unknown and the condition is frequently not pathologically proven. Vasculitis, on the other hand, is a more specific term and is defined as inflammation of the wall of a blood vessel. However, the term vasculopathy is also used for “vasculitis” that has not been pathologically established. subset: rare_grouping synonym: "disease of vasculature" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of vasculature" EXACT [] synonym: "disorder of vasculature" EXACT [MONDO:patterns/location_top] synonym: "vascular diseases" EXACT [] synonym: "vascular disorder" EXACT [NCIT:C35117] synonym: "vascular disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "vascular tissue disease" EXACT [DOID:178] synonym: "vasculature disease" EXACT [MONDO:patterns/location] synonym: "vasculature disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "vasculopathy" RELATED [https://doi.org/10.1007/978-3-540-78785-3_7, https://orcid.org/0000-0002-0736-9199] xref: DOID:178 {source="MONDO:equivalentTo", source="EFO:0004264"} xref: ICD10:I77 xref: ICD10:I78 xref: ICD10:I87 xref: ICD10:K55 xref: ICD10CM:I00-I99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:I70-I79 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:442.9 {source="DOID:178"} xref: MESH:D014652 {source="MONDO:equivalentTo", source="DOID:178", source="EFO:0004264"} xref: MeSH:D014652 xref: MONDO:0005385 xref: NCIT:C35117 {source="MONDO:equivalentTo", source="DOID:178"} xref: SCTID:27550009 {source="MONDO:equivalentTo", source="DOID:178"} xref: UMLS:C0042373 {source="MONDO:equivalentTo", source="NCIT:C35117", source="DOID:178"} is_a: EFO:0000319 {source="DOID:178", source="EFO:0004264", source="MESH:D014652", source="MONDO:Redundant", source="NCIT:C35117"} ! cardiovascular disease property_value: exactMatch DOID:178 property_value: exactMatch http://identifiers.org/mesh/D014652 property_value: exactMatch http://identifiers.org/snomedct/27550009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042373 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/I00-I99 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/I70-I79 property_value: exactMatch NCIT:C35117 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3602 xsd:anyURI [Term] id: EFO:0004265 name: peripheral arterial disease def: "A disorder of the arteries supplying the upper and lower extremity and the visceral organs. This includes the mesenteric arteries, the renal arteries and the aorta and excludes cerebrovascular arterial disease. Patients experience cramping and pain usually in the calves and thighs while walking. The symptoms subside with rest." [NCIT:C84496] def: "Lack of perfusion in the EXTREMITIES resulting from atherosclerosis. It is characterized by INTERMITTENT CLAUDICATION, and an ANKLE BRACHIAL INDEX of 0.9 or less." [] synonym: "Occlusive Peripheral Arterial Disease" EXACT [] synonym: "pad" EXACT [NCIT:C84496] synonym: "peripheral arterial disease" EXACT [] {comment="preferred label from MONDO"} synonym: "peripheral arterial diseases" EXACT [] synonym: "peripheral arterial disorder" EXACT [NCIT:C84496] synonym: "peripheral artery disease" EXACT [] synonym: "peripheral artery disease" RELATED [DOID:0050830] xref: DOID:0050830 {source="EFO:0004265", source="MONDO:equivalentTo"} xref: ICD9:443.81 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10067825 xref: MESH:D058729 {source="EFO:0004265", source="MONDO:equivalentTo"} xref: MeSH:D058729 xref: MONDO:0005386 xref: NCIT:C84496 {source="MONDO:equivalentTo"} xref: SCTID:399957001 {source="MONDO:equivalentTo"} is_a: EFO:0003875 {source="EFO:0004265", source="MESH:D058729", source="NCIT:C84496"} ! peripheral vascular disease is_a: EFO:0003914 ! atherosclerosis is_a: MONDO:0000473 {source="DOID:0050830"} ! arterial disorder property_value: exactMatch DOID:0050830 property_value: exactMatch http://identifiers.org/mesh/D058729 property_value: exactMatch http://identifiers.org/snomedct/399957001 property_value: exactMatch NCIT:C84496 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004266 name: primary ovarian insufficiency def: "Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries." [NCIT:C113352] def: "Cessation of ovarian function after MENARCHE but before the age of 40, without or with OVARIAN FOLLICLE depletion. It is characterized by the presence of OLIGOMENORRHEA or AMENORRHEA, elevated GONADOTROPINS, and low ESTRADIOL levels. It is a state of female HYPERGONADOTROPIC HYPOGONADISM. Etiologies include genetic defects, autoimmune processes, chemotherapy, radiation, and infections." [] synonym: "female hypergonadotropic hypogonadism" RELATED [] synonym: "hypergonadotrophic ovarian failure" RELATED [] synonym: "hypergonadotropic hypogonadism" RELATED [DOID:5426] synonym: "hypergonadotropic hypogonadism (female)" RELATED [NCIT:C113352] synonym: "premature menopause" RELATED [DOID:5426] synonym: "premature ovarian failure" EXACT [] synonym: "premature ovarian failure" RELATED [MESH:D016649, Orphanet:619] synonym: "premature ovarian insufficiency" RELATED [DOID:5426] synonym: "primary female hypogonadism" RELATED [] synonym: "primary ovarian failure" EXACT [NCIT:C113352] synonym: "primary ovarian failure" EXACT [] {comment="preferred label from MONDO"} synonym: "primary ovarian insufficiency" EXACT [DOID:5426, NCIT:C113352] synonym: "resistant ovary syndrome" EXACT [] xref: DOID:5426 {source="EFO:0004266", source="MONDO:equivalentTo"} xref: ICD10CM:E28.3 {source="MONDO:equivalentTo", source="DOID:5426"} xref: ICD9:253.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:256.39 xref: MedDRA:10036602 xref: MESH:D016649 {source="EFO:0004266", source="MONDO:equivalentTo", source="DOID:5426"} xref: MeSH:D016649 xref: MONDO:0005387 xref: NCIT:C113352 {source="MONDO:equivalentTo", source="DOID:5426"} xref: OMIM:300511 xref: OMIM:300604 xref: OMIM:311360 xref: OMIM:608996 xref: OMIM:611548 xref: OMIM:612310 xref: OMIM:612885 xref: OMIM:612964 xref: OMIM:613291 xref: OMIM:615723 xref: OMIM:615724 xref: OMIM:616946 xref: OMIM:616947 xref: Orphanet:619 {source="MONDO:equivalentObsolete", source="DOID:5426"} xref: SCTID:370999003 {source="MONDO:equivalentTo"} xref: SCTID:65846009 {source="MONDO:equivalentTo", source="DOID:5426"} xref: SNOMEDCT:237788002 xref: SNOMEDCT:80956002 xref: UMLS:C0085215 {source="MONDO:equivalentTo", source="DOID:5426"} is_a: EFO:0005771 {source="DOID:5426", source="EFO:0004266/inferred", source="MESH:D016649", source="NCIT:C113352/inferred"} ! ovarian disease is_a: EFO:0009003 ! ovarian dysfunction property_value: exactMatch DOID:5426 property_value: exactMatch http://identifiers.org/mesh/D016649 property_value: exactMatch http://identifiers.org/snomedct/370999003 property_value: exactMatch http://identifiers.org/snomedct/65846009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085215 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E28.3 property_value: exactMatch NCIT:C113352 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004267 name: biliary liver cirrhosis def: "FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow ( CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts ( BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cirrhosis involves the destruction of small intra-hepatic bile ducts and bile secretion. Secondary biliary cirrhosis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes." [] synonym: "biliary cirrhosis" EXACT [] xref: ICD9:571.6 xref: NCIt:C51225 xref: SNOMEDCT:1761006 is_a: EFO:0001422 ! cirrhosis of liver property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004268 name: sclerosing cholangitis def: "A chronic, autoimmune inflammatory liver disorder characterized by narrowing and scarring of the lumen of the bile ducts. It is often seen in patients with ulcerative colitis. Signs and symptoms include jaundice, fatigue, and malabsorption. It may lead to cirrhosis and liver failure." [NCIT:P378] def: "Chronic inflammatory disease of the BILIARY TRACT. It is characterized by fibrosis and hardening of the intrahepatic and extrahepatic biliary ductal systems leading to bile duct strictures, CHOLESTASIS, and eventual BILIARY CIRRHOSIS." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:447771"} synonym: "cholangitis, sclerosing" EXACT [] synonym: "fibrosing cholangitis" EXACT [DOID:14268] synonym: "Primary sclerosing cholangitis" EXACT [NCIT:C4828] synonym: "primary sclerosing cholangitis" EXACT [] synonym: "primary sclerosing cholangitis (PSC)" EXACT [NCIT:C4828] synonym: "sclerosing cholangitis" EXACT [] {comment="preferred label from MONDO"} synonym: "sclerosing cholangitis" EXACT [MONDO:ambiguous] synonym: "sclerosing cholangitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:14268 {source="EFO:0004268", source="MONDO:equivalentTo"} xref: HP:0030991 {source="MONDO:otherHierarchy"} xref: MedDRA:10039717 xref: MeSH:D015209 xref: MONDO:0018646 xref: NCIT:C4828 {source="EFO:0004268", source="MONDO:equivalentTo"} xref: NCIt:C4828 xref: OMIM:617394 xref: Orphanet:447771 {source="MONDO:equivalentTo"} xref: SCTID:235917005 {source="EFO:0004268", source="MONDO:equivalentTo", source="DOID:14268"} xref: SNOMEDCT:235917005 xref: UMLS:C0008313 {source="MONDO:equivalentTo", source="DOID:14268", source="Orphanet:447771"} is_a: EFO:0001421 ! liver disease is_a: MONDO:0004789 {source="DOID:14268", source="NCIT:C4828"} ! cholangitis relationship: EFO:0000784 UBERON:0002294 ! has_disease_location biliary system relationship: has_characteristic MONDO:0021136 {source="MONDO:0015116"} ! rare property_value: exactMatch DOID:14268 property_value: exactMatch http://identifiers.org/snomedct/235917005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008313 property_value: exactMatch NCIT:C4828 property_value: exactMatch Orphanet:447771 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000589 "sclerosing cholangitis (disease)" xsd:string [Term] id: EFO:0004269 name: cardiac arrhythmia def: "Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction." [] synonym: "arrhythmia" EXACT [] synonym: "arrhythmias, cardiac" EXACT [] synonym: "arrythmia" EXACT [] synonym: "cardiac arrhythmias" EXACT [] xref: ICD10:I49 xref: ICD10:R00 xref: MedDRA:10007518 xref: MeSH:D001145 xref: NCIt:C2881 xref: SNOMEDCT:698247007 is_a: EFO:0003777 ! heart disease relationship: RO:0002200 HP:0001657 ! has phenotype Prolonged QT interval property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004270 name: restless legs syndrome def: "A condition that occurs while resting or lying in bed; it is characterized by an irresistible urgency to move the legs to obtain relief from a strange and uncomfortable sensation in the legs." [NCIT:C84501] def: "A disorder characterized by aching or burning sensations in the lower and rarely the upper extremities that occur prior to sleep or may awaken the patient from sleep. Complying with an irresistible urge to move the affected limbs brings temporary relief. Sleep may become disrupted, resulting in excessive daytime hypersomnolence. This condition may be associated with UREMIA; DIABETES MELLITUS; and rheumatoid arthritis. Restless Legs Syndrome differs from NOCTURNAL MYOCLONUS SYNDROME in that in the latter condition the individual does not report adverse sensory stimuli and it is primarily a sleep-associated movement disorder. (Adams et al., Principles of Neurology, 6th ed, p387; Schweiz Rundsch Med Prax 1997 Apr 30;86(18):732-736)." [] synonym: "Ekbom syndrome" EXACT [] synonym: "Ekbom's syndrome" EXACT [] synonym: "restless leg syndrome" EXACT [NCIT:C84501] synonym: "restless legs" EXACT [] synonym: "restless legs syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "RLS" BROAD ABBREVIATION [NCIT:C84501] synonym: "WED" BROAD ABBREVIATION [DOID:0050425] synonym: "Willis-Ekbom disease" EXACT [DOID:0050425] synonym: "Wittmaack-Ekbom syndrome" EXACT [DOID:0050425] xref: DOID:0050425 {source="MONDO:equivalentTo", source="EFO:0004270"} xref: ICD10CM:G25.81 {source="DOID:0050425", source="MONDO:equivalentTo"} xref: ICD9:333.94 {source="DOID:0050425", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:333.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10058920 xref: MESH:D012148 {source="DOID:0050425", source="MONDO:equivalentTo", source="EFO:0004270"} xref: MeSH:D012148 xref: MONDO:0005391 xref: NCIT:C84501 {source="DOID:0050425", source="MONDO:equivalentTo"} xref: OMIM:611185 xref: OMIM:612853 xref: SCTID:32914008 {source="DOID:0050425", source="MONDO:equivalentTo", source="EFO:0004270"} xref: SNOMEDCT:32914008 xref: UMLS:C0035258 {source="NCIT:C84501", source="DOID:0050425", source="MONDO:equivalentTo"} is_a: EFO:0000618 {source="https://github.com/monarch-initiative/mondo/issues/468"} ! nervous system disease property_value: exactMatch DOID:0050425 property_value: exactMatch http://identifiers.org/mesh/D012148 property_value: exactMatch http://identifiers.org/snomedct/32914008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035258 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G25.81 property_value: exactMatch NCIT:C84501 property_value: excluded_subClassOf MONDO:0002254 {source="NCIT:C84501"} property_value: excluded_subClassOf MONDO:0002602 {source="DOID:0050425"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004272 name: anemia (phenotype) def: "A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin." [] xref: DOID:2355 xref: HP:0001903 xref: MeSH:D000740 xref: NCIt:C2869 xref: OMIM:300908 xref: SNOMEDCT:271737000 is_a: HP:0001877 ! Abnormal erythrocyte morphology property_value: definition:citation http://purl.obolibrary.org/obo/HP_0001903 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004273 name: scoliosis def: "A congenital or acquired spinal deformity characterized by lateral curvature of the spine." [NCIT:P378] def: "An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed)" [] synonym: "scoliosis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0060249 {source="MONDO:equivalentTo", source="EFO:0004273"} xref: HP:0002650 {source="MONDO:otherHierarchy", source="DOID:0060249"} xref: ICD10:M41 xref: ICD10CM:M41 {source="MONDO:equivalentTo", source="DOID:0060249"} xref: ICD9:737.43 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10039722 xref: MESH:D012600 {source="MONDO:equivalentTo", source="DOID:0060249", source="EFO:0004273"} xref: MeSH:D012600 xref: MONDO:0005392 xref: NCIT:C78603 {source="MONDO:equivalentTo", source="DOID:0060249", source="EFO:0004273"} xref: NCIt:C78603 xref: SCTID:298382003 {source="MONDO:equivalentTo", source="DOID:0060249"} is_a: MONDO:0000836 {source="DOID:0060249"} ! disease of bone structure property_value: exactMatch DOID:0060249 property_value: exactMatch http://identifiers.org/mesh/D012600 property_value: exactMatch http://identifiers.org/snomedct/298382003 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/M41 property_value: exactMatch NCIT:C78603 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004274 name: gout def: "A condition characterized by painful swelling of the joints, which is caused by deposition of urate crystals." [NCIT:C34650] def: "metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and deposition of sodium urate in and around the joints, sometimes with formation of uric acid calculi. Gout is partly genetic." [] synonym: "articular gout" EXACT [DOID:13189] synonym: "chronic gout" BROAD [https://orcid.org/0000-0002-8169-9049, PMID:26889313] synonym: "gout" EXACT [NCIT:C34650] synonym: "gout" EXACT [] {comment="preferred label from MONDO"} synonym: "gouty arthritis" EXACT [DOID:13189] synonym: "gouty arthropathy" EXACT [DOID:13189, ICD9CM:274.0] synonym: "tophaceous disease" BROAD [https://orcid.org/0000-0002-8169-9049, PMID:26889313] synonym: "tophaceous gout" BROAD [https://orcid.org/0000-0002-8169-9049, PMID:26889313] xref: DOID:13189 {source="MONDO:equivalentTo", source="EFO:0004274"} xref: ICD10:M10 xref: ICD10CM:M10 {source="MONDO:equivalentTo", source="DOID:13189"} xref: ICD9:274 {source="DOID:13189", source="EFO:0004274"} xref: ICD9:274.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13189"} xref: ICD9:274.00 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13189"} xref: ICD9:274.9 {source="DOID:13189"} xref: MedDRA:10018627 xref: MedDRA:10018633 xref: MESH:D006073 {source="MONDO:equivalentTo", source="DOID:13189", source="EFO:0004274"} xref: MeSH:D006073 xref: MONDO:0005393 xref: NCIT:C34650 {source="MONDO:equivalentTo", source="DOID:13189", source="MONDO:exact-label-match", source="EFO:0004274"} xref: NCIt:C34650 xref: SCTID:190828008 {source="MONDO:equivalentTo", source="DOID:13189"} xref: SNOMEDCT:90560007 xref: UMLS:C0003868 {source="MONDO:equivalentTo", source="DOID:13189"} xref: UMLS:C0018099 {source="MONDO:equivalentTo", source="NCIT:C34650", source="DOID:13189"} is_a: EFO:0000589 {source="MESH:D006073/inferred", source="NCIT:C34650"} ! metabolic disease is_a: EFO:0005856 ! arthritis relationship: disease_has_feature MONDO:0003366 {source="MONDO:Wikidata"} ! hydrarthrosis property_value: exactMatch DOID:13189 property_value: exactMatch http://identifiers.org/mesh/D006073 property_value: exactMatch http://identifiers.org/snomedct/190828008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003868 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018099 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/M10 property_value: exactMatch NCIT:C34650 property_value: excluded_subClassOf MONDO:0005578 {source="DOID:13189", source="EFO:0004274", source="MESH:D006073", source="NCIT:C34650"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004275 name: obsolete_sick sinus syndrome def: "A condition caused by dysfunctions related to the SINOATRIAL NODE including impulse generation ( CARDIAC SINUS ARREST) and impulse conduction ( SINOATRIAL EXIT BLOCK). It is characterized by persistent BRADYCARDIA, chronic ATRIAL FIBRILLATION, and failure to resume sinus rhythm following CARDIOVERSION. This syndrome can be congenital or acquired, particularly after surgical correction for heart defects." [] xref: MeSH:D012804 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_166282' instead.\nNew Label : Familial sick sinus syndrome" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_166282 [Term] id: EFO:0004276 name: Stevens-Johnson syndrome def: "A variant of bullous erythema multiforme. It ranges from mild skin and mucous membrane lesions to a severe, sometimes fatal systemic disorder. Ocular symptoms include ulcerative conjunctivitis, keratitis, iritis, uveitis, and sometimes blindness. The cause of the disease is unknown." [] def: "Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area." [Orphanet:36426] subset: ordo_clinical_subtype {source="Orphanet:36426"} synonym: "Dermatostomatitis, Stevens Johnson type" EXACT [Orphanet:36426] synonym: "erythema multiforme major" RELATED [NCIT:C79484] synonym: "hypersensitivity syndrome, carbamazepine-induced, susceptibility to" RELATED [OMIM:608579] synonym: "severe cutaneous adverse reaction, susceptibility to" RELATED [OMIM:608579] synonym: "Stevens Johnson syndrome" EXACT [NCIT:C79484] synonym: "Stevens-Johnson syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Stevens-Johnson syndrome, susceptibility to" RELATED [OMIM:608579] synonym: "toxic Epidermal necrolysis, susceptibility to" RELATED [OMIM:608579] xref: DOID:0050426 {source="EFO:0004276", source="MONDO:equivalentTo"} xref: ICD10CM:L51.1 {source="Orphanet:36426", source="Orphanet:36426/ntbt", source="MONDO:equivalentTo", source="DOID:0050426"} xref: ICD9:695.12 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:695.13 {source="EFO:0004276", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:0050426"} xref: ICD9:695.15 {source="DOID:0050426"} xref: MedDRA:10015218 xref: MedDRA:10042033 {source="Orphanet:36426", source="Orphanet:36426/e"} xref: MESH:D013262 {source="Orphanet:36426", source="EFO:0004276", source="MONDO:equivalentTo", source="Orphanet:36426/e", source="DOID:0050426"} xref: MeSH:D013262 xref: MONDO:0018229 xref: NCIT:C79484 {source="EFO:0004276", source="MONDO:equivalentTo", source="DOID:0050426"} xref: NCIt:C79484 xref: OMIM:608579 {source="Orphanet:36426", source="EFO:0004276", source="Orphanet:36426/ntbt", source="MONDO:equivalentTo"} xref: Orphanet:36426 {source="OMIM:608579", source="MONDO:equivalentTo"} xref: SCTID:73442001 {source="EFO:0004276", source="MONDO:equivalentTo", source="DOID:0050426"} xref: SNOMEDCT:73442001 xref: UMLS:C0038325 {source="Orphanet:36426", source="NCIT:C79484", source="MONDO:equivalentTo", source="Orphanet:36426/e", source="DOID:0050426"} is_a: EFO:0004775 {source="Orphanet:36426"} ! toxic epidermal necrolysis is_a: MONDO:0002254 {source="NCIT:C79484"} ! syndromic disease relationship: EFO:0000784 UBERON:0000014 ! has_disease_location zone of skin property_value: closeMatch http://identifiers.org/meddra/10042033 property_value: exactMatch DOID:0050426 property_value: exactMatch http://identifiers.org/mesh/D013262 property_value: exactMatch http://identifiers.org/snomedct/73442001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038325 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L51.1 property_value: exactMatch https://omim.org/entry/608579 property_value: exactMatch NCIT:C79484 property_value: exactMatch Orphanet:36426 property_value: excluded_subClassOf MONDO:0005594 {source="EFO:0004276"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004277 name: brain infarction def: "Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis." [] def: "Tissue necrosis in any area of the brain, including the cerebral hemispheres, the cerebellum, and the brain stem. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by hypoxia and hypoglycemia in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis." [MESH:D020520] synonym: "ANTERIOR CEREBRAL CIRC INFARCT" EXACT [] synonym: "Anterior Cerebral Circulation Infarction" EXACT [] synonym: "ANTERIOR CIRC BRAIN INFARCT" EXACT [] synonym: "ANTERIOR CIRC INFARCT BRAIN" EXACT [] synonym: "Anterior Circulation Brain Infarction" EXACT [] synonym: "Anterior Circulation Infarction, Brain" EXACT [] synonym: "BRAIN INFARCT" EXACT [] synonym: "BRAIN INFARCT ANTERIOR CIRC" EXACT [] synonym: "BRAIN INFARCT POSTERIOR CIRC" EXACT [] synonym: "BRAIN INFARCT VENOUS" EXACT [] synonym: "Brain Infarction" EXACT [] synonym: "brain infarction" EXACT [] {comment="preferred label from MONDO"} synonym: "Brain Infarction, Anterior Circulation" EXACT [] synonym: "Brain Infarction, Posterior Circulation" EXACT [] synonym: "Brain Infarction, Venous" EXACT [] synonym: "Brain Infarctions" EXACT [] synonym: "Brain Infarctions, Venous" EXACT [] synonym: "Brain Venous Infarction" EXACT [] synonym: "Brain Venous Infarctions" EXACT [] synonym: "INFARCT ANTERIOR CEREBRAL CIRC" EXACT [] synonym: "INFARCT ANTERIOR CIRC BRAIN" EXACT [] synonym: "INFARCT BRAIN ANTERIOR CIRC" EXACT [] synonym: "INFARCT BRAIN POSTERIOR CIRC" EXACT [] synonym: "INFARCT LACUNAR" EXACT [] synonym: "INFARCT POSTERIOR CIRC BRAIN" EXACT [] synonym: "Infarction, Anterior Cerebral Circulation" EXACT [] synonym: "Infarction, Anterior Circulation, Brain" EXACT [] synonym: "Infarction, Brain" EXACT [] synonym: "Infarction, Brain Venous" EXACT [] synonym: "Infarction, Brain, Anterior Circulation" EXACT [] synonym: "Infarction, Brain, Posterior Circulation" EXACT [] synonym: "Infarction, Lacunar" EXACT [] synonym: "Infarction, Posterior Circulation, Brain" EXACT [] synonym: "Infarction, Venous Brain" EXACT [] synonym: "Infarctions, Brain" EXACT [] synonym: "Infarctions, Brain Venous" EXACT [] synonym: "Infarctions, Lacunar" EXACT [] synonym: "Infarctions, Venous Brain" EXACT [] synonym: "Lacunar Infarction" EXACT [] synonym: "Lacunar Infarctions" EXACT [] synonym: "POSTERIOR CIRC BRAIN INFARCT" EXACT [] synonym: "POSTERIOR CIRC INFARCT BRAIN" EXACT [] synonym: "Posterior Circulation Brain Infarction" EXACT [] synonym: "Posterior Circulation Infarction, Brain" EXACT [] synonym: "Venous Brain Infarction" EXACT [] synonym: "Venous Brain Infarctions" EXACT [] synonym: "VENOUS INFARCT BRAIN" EXACT [] synonym: "Venous Infarction, Brain" EXACT [] synonym: "Venous Infarctions, Brain" EXACT [] xref: DOID:3454 {source="EFO:0004277", source="MONDO:equivalentTo"} xref: ICD10:I63 xref: MedDRA:10072154 xref: MESH:D020520 {source="EFO:0004277", source="DOID:3454", source="MONDO:equivalentTo"} xref: MeSH:D020520 xref: MONDO:0005394 xref: SNOMEDCT:230693009 xref: SNOMEDCT:230698000 xref: UMLS:C0751955 {source="DOID:3454", source="MONDO:equivalentTo"} is_a: EFO:0003763 {source="DOID:3454", source="MESH:D020520/inferred"} ! cerebrovascular disorder relationship: EFO:0000784 UBERON:0003499 ! has_disease_location brain blood vessel property_value: exactMatch DOID:3454 property_value: exactMatch http://identifiers.org/mesh/D020520 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751955 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004278 name: sudden cardiac arrest def: "Unexpected rapid natural death due to cardiovascular collapse within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as CHEST PAIN and CARDIAC ARRHYTHMIAS, particularly VENTRICULAR TACHYCARDIA, can lead to the loss of consciousness and cardiac arrest followed by biological death. (from Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 7th ed., 2005)" [] comment: Change to current cardiac arrthymia parent requested and confirmed as a correct use of is-a by James Ware, cardiac expert. synonym: "death, sudden, cardiac" EXACT [] synonym: "sudden cardiac death" EXACT [] xref: MedDRA:10049418 xref: MeSH:D016757 xref: NCIt:C50911 xref: OMIM:115080 xref: OMIM:617222 xref: OMIM:617223 xref: SNOMEDCT:95281009 is_a: EFO:0009492 ! cardiac arrest property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004279 name: suntan def: "An induced skin pigment ( MELANIN) darkening after exposure to SUNLIGHT or ULTRAVIOLET RAYS. The degree of tanning depends on the intensity and duration of UV exposure, and genetic factors." [] xref: MeSH:D055107 xref: SNOMEDCT:238516007 is_a: EFO:0003784 ! skin pigmentation property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004280 name: movement disorder def: "Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement." [NCIT:C116757] def: "Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." [] synonym: "movement disease" EXACT [MONDO:0003151] synonym: "movement disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "movement disorders" EXACT [NCIT:C116757] synonym: "tardive dyskinesia" EXACT [] xref: DOID:480 {source="MONDO:equivalentTo"} xref: ICD10:G25 xref: ICD9:333.90 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:333.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10028035 xref: MESH:D009069 {source="DOID:480", source="MONDO:equivalentTo", source="EFO:0004280"} xref: MeSH:D009069 xref: MONDO:0005395 xref: NCIT:C116757 {source="DOID:480", source="MONDO:equivalentTo", source="EFO:0004280", source="MONDO:exact-label-match"} xref: NCIt:C116757 xref: SCTID:60342002 {source="DOID:480", source="MONDO:equivalentTo", source="EFO:0004280"} xref: SNOMEDCT:60342002 is_a: EFO:0000618 {source="DOID:480/inferred", source="EFO:0004280", source="MESH:D009069/inferred", source="NCIT:C116757/inferred"} ! nervous system disease property_value: exactMatch DOID:480 property_value: exactMatch http://identifiers.org/mesh/D009069 property_value: exactMatch http://identifiers.org/snomedct/60342002 property_value: exactMatch NCIT:C116757 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004281 name: testicular neoplasm def: "Tumors or cancer of the TESTIS. Germ cell tumors ( GERMINOMA) of the testis constitute 95% of all testicular neoplasms." [] synonym: "testicular cancer" EXACT [] synonym: "testicular germ cell cancer" EXACT [] synonym: "testicular germ cell tumor" EXACT [] synonym: "testicular neoplasms" EXACT [] xref: DOID:2998 xref: DOID:5557 xref: MedDRA:10061379 xref: MeSH:C563236 xref: MeSH:D013736 xref: NCIt:C3404 is_a: EFO:0003863 ! urogenital neoplasm property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004282 name: thoracic aortic aneurysm def: "An abnormal balloon- or sac-like dilatation in the wall of the THORACIC AORTA. This proximal descending portion of aorta gives rise to the visceral and the parietal branches above the aortic hiatus at the diaphragm." [] def: "An aneurysm formed in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta." [NCIT:P378] synonym: "aortic aneurysm, thoracic" EXACT [] synonym: "thoracic aortic aneurysm" EXACT [] {comment="preferred label from MONDO"} xref: DOID:14004 {source="MONDO:equivalentTo", source="EFO:0004282"} xref: MedDRA:10043465 xref: MESH:D017545 {source="MONDO:equivalentTo", source="EFO:0004282", source="DOID:14004"} xref: MeSH:D017545 xref: MONDO:0005396 xref: NCIt:C27001 xref: Orphanet:91387 {source="MONDO:relatedTo", source="DOID:14004"} xref: SCTID:433068007 {source="MONDO:equivalentTo", source="DOID:14004"} xref: UMLS:C0162872 {source="MONDO:equivalentTo", source="DOID:14004"} is_a: EFO:0001666 {source="DOID:14004", source="EFO:0004282"} ! aortic aneurysm property_value: exactMatch DOID:14004 property_value: exactMatch http://identifiers.org/mesh/D017545 property_value: exactMatch http://identifiers.org/snomedct/433068007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162872 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004283 name: goiter def: "Enlargement of the THYROID GLAND that may increase from about 20 grams to hundreds of grams in human adults. Goiter is observed in individuals with normal thyroid function (euthyroidism), thyroid deficiency ( HYPOTHYROIDISM), or hormone overproduction ( HYPERTHYROIDISM). Goiter may be congenital or acquired, sporadic or endemic ( GOITER, ENDEMIC)." [] def: "Enlargement of the thyroid gland usually caused by lack of iodine in the diet, hyperthyroidism, or thyroid nodules. Symptoms include difficulty in breathing and swallowing." [NCIT:P378] synonym: "goiter" EXACT [DOID:12176, MONDO:ambiguous] synonym: "goiter" EXACT [] {comment="preferred label from MONDO"} synonym: "goiter (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "goitre (disease)" EXACT OMO:0003005 [] synonym: "Thyromegaly" EXACT [NCIT:C26785] xref: DOID:12176 {source="MONDO:equivalentTo", source="EFO:0004283"} xref: HP:0000853 {source="MONDO:otherHierarchy"} xref: ICD10:E04 xref: ICD9:240.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12176"} xref: MedDRA:10018491 xref: MedDRA:10018496 xref: MedDRA:10018497 xref: MESH:D006042 {source="MONDO:equivalentTo", source="DOID:12176", source="EFO:0004283"} xref: MeSH:D006042 xref: MONDO:0005397 xref: NCIT:C26785 {source="MONDO:equivalentTo", source="DOID:12176", source="EFO:0004283"} xref: NCIt:C26785 xref: SCTID:3716002 {source="MONDO:equivalentTo", source="DOID:12176", source="EFO:0004283"} xref: SNOMEDCT:3716002 is_a: EFO:1000627 {source="DOID:12176", source="MESH:D006042", source="NCIT:C26785/inferred"} ! thyroid disease property_value: exactMatch DOID:12176 property_value: exactMatch http://identifiers.org/mesh/D006042 property_value: exactMatch http://identifiers.org/snomedct/3716002 property_value: exactMatch NCIT:C26785 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000589 "goiter (disease)" xsd:string [Term] id: EFO:0004284 name: upper aerodigestive tract neoplasm def: "Soft tissue tumors or cancer arising from the mucosal surfaces of the lip; oral cavity; pharynx; larynx; and cervical esophagus. Other sites included are the nose and paranasal sinuses; salivary glands; thyroid gland and parathyroid glands; and melanoma and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)" [MESH:D006258] synonym: "upper aerodigestive tract neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "upper aerodigestive tract neoplasm" EXACT [] {comment="preferred label from MONDO"} xref: EFO:0004284 {source="MONDO:equivalentTo"} xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:239.89 {source="MONDO:relatedTo", source="i2s"} xref: MONDO:0005398 xref: SCTID:439361000 {source="MONDO:equivalentTo"} is_a: EFO:0000616 {source="EFO:0004284"} ! neoplasm property_value: closeMatch http://identifiers.org/mesh/D006258 property_value: exactMatch http://identifiers.org/snomedct/439361000 property_value: exactMatch http://identifiers.org/snomedct/439361000 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004285 name: albuminuria def: "The presence of albumin in the urine, an indicator of KIDNEY DISEASES." [] synonym: "urinary albumin excretion" EXACT [] xref: HP:0012592 xref: MedDRA:10001580 xref: MeSH:D000419 xref: SNOMEDCT:274769005 is_a: HP:0000093 ! Proteinuria property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004286 name: venous thromboembolism def: "Obstruction of a vein or VEINS (embolism) by a blood clot ( THROMBUS) in the blood stream." [] def: "Occlusion of the lumen of a vein by a thrombus that has migrated from a distal site via the blood stream." [NCIT:C99537] synonym: "venous thromboembolism" EXACT [] {comment="preferred label from MONDO"} synonym: "venous thromboembolism" EXACT [NCIT:C99537] synonym: "VTE" EXACT [] xref: ICD10:I74 xref: ICD10:I82 xref: MedDRA:10066899 xref: MESH:D054556 {source="MONDO:equivalentTo", source="EFO:0004286"} xref: MeSH:D054556 xref: MONDO:0005399 xref: NCIT:C99537 {source="MONDO:equivalentTo", source="EFO:0004286"} xref: NCIt:C99537 xref: UMLS:C1861172 {source="MONDO:equivalentTo", source="NCIT:C99537"} is_a: EFO:0004264 {source="EFO:0004286", source="MESH:D054556/inferred", source="NCIT:C99537/inferred"} ! vascular disease property_value: exactMatch http://identifiers.org/mesh/D054556 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861172 property_value: exactMatch NCIT:C99537 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004287 name: ventricular fibrillation def: "A disorder characterized by an electrocardiographic finding of a rapid grossly irregular ventricular rhythm with marked variability in QRS cycle length, morphology, and amplitude. The rate is typically greater than 300 bpm. (CDISC)" [NCIT:P378] def: "A potentially lethal cardiac arrhythmia that is characterized by uncoordinated extremely rapid firing of electrical impulses (400-600/min) in HEART VENTRICLES. Such asynchronous ventricular quivering or fibrillation prevents any effective cardiac output and results in unconsciousness ( SYNCOPE). It is one of the major electrocardiographic patterns seen with CARDIAC ARREST." [] synonym: "fibrillation, ventricular" EXACT [NCIT:C50799] synonym: "ventricular fibrillation" EXACT [MONDO:ambiguous] synonym: "ventricular fibrillation" EXACT [] {comment="preferred label from MONDO"} synonym: "ventricular fibrillation (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "VF" EXACT ABBREVIATION [NCIT:C50799] synonym: "VFib" EXACT [NCIT:C50799] xref: HP:0001663 {source="MONDO:otherHierarchy"} xref: ICD9:427.41 {source="EFO:0004287", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10047290 xref: MESH:D014693 {source="EFO:0004287", source="MONDO:equivalentTo"} xref: MeSH:D014693 xref: MONDO:0000190 xref: NCIT:C50799 {source="EFO:0004287", source="MONDO:equivalentTo"} xref: NCIt:C50799 xref: SCTID:71908006 {source="EFO:0004287", source="MONDO:equivalentTo"} xref: SNOMEDCT:71908006 xref: UMLS:C0042510 {source="NCIT:C50799", source="MONDO:equivalentTo"} is_a: EFO:0004269 ! cardiac arrhythmia is_a: MONDO:0007263 {source="EFO:0004287", source="NCIT:C50799"} ! cardiac rhythm disease property_value: exactMatch http://identifiers.org/mesh/D014693 property_value: exactMatch http://identifiers.org/snomedct/71908006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042510 property_value: exactMatch NCIT:C50799 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000589 "ventricular fibrillation (disease)" xsd:string [Term] id: EFO:0004288 name: colonic neoplasm def: "A benign or malignant neoplasm that affects the colon. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colonic adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." [NCIT:C2953] synonym: "colon neoplasm" EXACT [NCIT:C2953] synonym: "colon neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "colon tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2953] synonym: "colon tumour" EXACT OMO:0003005 [] synonym: "colonic neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "colonic neoplasm" EXACT [NCIT:C2953] synonym: "colonic neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "colonic tumor" EXACT [NCIT:C2953] synonym: "colonic tumour" EXACT OMO:0003005 [] synonym: "neoplasm of colon" EXACT [MONDO:patterns/neoplasm, NCIT:C2953] synonym: "neoplasm of the colon" EXACT [NCIT:C2953] synonym: "tumor of colon" EXACT [MONDO:patterns/neoplasm, NCIT:C2953] synonym: "tumor of the colon" EXACT [NCIT:C2953] synonym: "tumour of colon" EXACT OMO:0003005 [] synonym: "tumour of the colon" EXACT OMO:0003005 [] xref: EFO:0004288 {source="MONDO:equivalentTo"} xref: MESH:D003110 {source="EFO:0004288", source="DOID:219", source="MONDO:equivalentTo"} xref: MONDO:0005401 xref: NCIT:C2953 {source="EFO:0004288", source="MONDO:equivalentTo"} xref: UMLS:C0009375 {source="MONDO:equivalentTo", source="NCIT:C2953"} is_a: EFO:0004142 {source="MESH:D003110", source="NCIT:C2953"} ! colorectal neoplasm is_a: MONDO:0003409 {source="MESH:D003110/inferred", source="MONDO:Redundant"} ! colonic disorder property_value: exactMatch http://identifiers.org/mesh/D003110 property_value: exactMatch http://identifiers.org/mesh/D003110 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009375 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009375 property_value: exactMatch NCIT:C2953 property_value: exactMatch NCIT:C2953 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/neoplasm.yaml [Term] id: EFO:0004289 name: lymphoid leukemia def: "A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias." [NCIT:C7539] synonym: "leukemia, LYMPHOCYTIC, malignant" EXACT [NCIT:C7539] synonym: "lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "lymphocytic leukemia" EXACT [NCIT:C7539] synonym: "lymphogenous leukaemia" EXACT OMO:0003005 [] synonym: "lymphogenous leukemia" EXACT [NCIT:C7539] synonym: "lymphoid leukaemia (disease)" EXACT OMO:0003005 [] synonym: "lymphoid leukemia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "lymphoid leukemia" EXACT [] {comment="preferred label from MONDO"} synonym: "lymphoid leukemia" EXACT [MONDO:ambiguous, NCIT:C7539] synonym: "lymphoid leukemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "subacute lymphoid leukaemia" EXACT OMO:0003005 [] synonym: "subacute lymphoid leukemia" EXACT [DOID:10747] xref: DOID:1037 {source="MONDO:equivalentTo"} xref: DOID:10747 {source="EFO:0004289", source="MONDO:equivalentObsolete"} xref: DOID:10747 {source="EFO:0004289", source="MONDO:equivalentTo"} xref: EFO:0004289 {source="MONDO:equivalentTo"} xref: HP:0005526 {source="MONDO:otherHierarchy"} xref: ICD9:204 {source="EFO:0004289"} xref: ICD9:204.2 {source="DOID:10747"} xref: ICD9:204.20 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:204.20 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:981-983 {source="NCIT:C7539"} xref: ICDO:9820/3 {source="NCIT:C7539"} xref: MESH:D007945 {source="EFO:0004289", source="MONDO:equivalentTo"} xref: MONDO:0005402 xref: NCIT:C7539 {source="EFO:0004289", source="MONDO:equivalentTo", source="DOID:1037"} xref: SCTID:188726003 {source="MONDO:equivalentTo", source="DOID:10747"} xref: UMLS:C0023448 {source="MONDO:equivalentTo", source="NCIT:C7539"} xref: UMLS:C0152271 {source="MONDO:equivalentTo", source="DOID:10747"} is_a: EFO:0000565 {source="DOID:10747/inferred", source="EFO:0004289", source="MESH:D007945", source="MONDO:Redundant", source="NCIT:C7539"} ! leukemia is_a: EFO:0001642 {source="EFO:0004289/inferred", source="MONDO:Redundant", source="NCIT:C7539"} ! lymphoid neoplasm property_value: closeMatch http://identifiers.org/snomedct/154590001 property_value: closeMatch http://identifiers.org/snomedct/188725004 property_value: closeMatch http://identifiers.org/snomedct/190035004 property_value: closeMatch http://identifiers.org/snomedct/32280000 property_value: closeMatch http://identifiers.org/snomedct/33560006 property_value: closeMatch http://identifiers.org/snomedct/95274002 property_value: exactMatch DOID:1037 property_value: exactMatch DOID:10747 property_value: exactMatch http://identifiers.org/mesh/D007945 property_value: exactMatch http://identifiers.org/mesh/D007945 property_value: exactMatch http://identifiers.org/snomedct/188726003 property_value: exactMatch http://identifiers.org/snomedct/188726003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023448 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023448 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152271 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152271 property_value: exactMatch NCIT:C7539 property_value: exactMatch NCIT:C7539 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000589 "lymphoid leukemia (disease)" xsd:string [Term] id: EFO:0004290 name: obsolete_sneezing def: "The sudden, forceful, involuntary expulsion of air from the NOSE and MOUTH caused by irritation to the MUCOUS MEMBRANES of the upper RESPIRATORY TRACT." [] xref: MeSH:D012912 xref: NCIt:C50746 xref: SNOMEDCT:76067001 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.84" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use : HP_0025095 label : Sneeze" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HP_0025095 [Term] id: EFO:0004291 name: braces def: "Orthopedic appliances used to support, align, or hold parts of the body in correct position. (Dorland, 28th ed)." [] xref: MeSH:D001915 is_a: EFO:0000548 ! instrument property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004292 name: vaccination def: "A process that involves adding vaccine into a host (e.g., human, mouse) in vivo with the intent to invoke a protective immune response." [] synonym: "active immunization" EXACT [] xref: ICD10:Z24 xref: ICD10:Z25 xref: ICD10:Z26 xref: ICD10:Z27 xref: MeSH:D014611 xref: NCIt:C15346 xref: obo:VO_0000002 xref: SNOMEDCT:33879002 is_a: EFO:0004542 ! planned process property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004293 name: recombination def: "Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses." [] synonym: "genetic recombination" EXACT [] synonym: "recombination, genetic" EXACT [] xref: MeSH:D011995 xref: SNOMEDCT:816009 is_a: EFO:0000510 ! genetic modification property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004294 name: left atrial function def: "The hemodynamic and electrophysiological action of the LEFT ATRIUM." [] synonym: "atrial function, left" EXACT [] xref: MeSH:D016279 is_a: BFO:0000034 ! function property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004295 name: left ventricular function def: "The hemodynamic and electrophysiological action of the left HEART VENTRICLE. Its measurement is an important aspect of the clinical evaluation of patients with heart disease to determine the effects of the disease on cardiac performance." [] synonym: "ventricular function, left" EXACT [] xref: MeSH:D016277 xref: SNOMEDCT:250907009 is_a: BFO:0000034 ! function property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004296 name: thyroid function def: "Physiological activity and functions of the highly vascular thyroid gland, such as producing the thyroid hormones which are concerned in regulating the metabolic rate of the body." [] is_a: BFO:0000034 ! function property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004297 name: clinical laboratory measurement def: "A clinical laboratory measurement is a measurement of some entity e.g. erythrocyte count or metabolite panel which is used in the process of clinical diagnosis in human patients" [] synonym: "clinical laboratory techniques" EXACT [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004298 name: cardiovascular measurement def: "A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used in the process of disease diagnosis in human patients." [] synonym: "cardiovascular diagnostic technique" EXACT [] synonym: "Diagnostic Techniques, Cardiovascular" EXACT [] xref: MeSH:D003935 xref: SNOMEDCT:113021009 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004299 name: life expectancy def: "Based on known statistical data, the number of years which any person of a given age may reasonably be expected to live." [] xref: MeSH:D008017 is_a: EFO:0000719 ! temporal measurement property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004300 name: longevity def: "The length of time of an organism's life." [] comment: Combine with age, or move? synonym: "length of life" EXACT [] xref: MeSH:D008136 xref: SNOMEDCT:111951006 is_a: EFO:0000719 ! temporal measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004301 name: blood viscosity def: "The internal resistance of the BLOOD to shear forces. The in vitro measure of whole blood viscosity is of limited clinical utility because it bears little relationship to the actual viscosity within the circulation, but an increase in the viscosity of circulating blood can contribute to morbidity in patients suffering from disorders such as SICKLE CELL ANEMIA and POLYCYTHEMIA." [] xref: MeSH:D001809 xref: SNOMEDCT:85015001 is_a: EFO:0004503 ! hematological measurement is_a: EFO:0004872 ! inflammatory biomarker measurement relationship: IAO:0000136 EFO:0001941 ! is_about blood component relationship: IAO:0000136 GO:0006954 ! is_about inflammatory response property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004302 name: anthropometric measurement def: "Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." [] synonym: "anthropometric traits" EXACT [] synonym: "anthropometry" EXACT [] xref: MeSH:D000886 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004303 name: vital signs def: "The signs of life that may be monitored or measured, namely pulse rate, respiratory rate, body temperature, and blood pressure." [] xref: MeSH:D055986 xref: SNOMEDCT:46680005 is_a: EFO:0001444 ! measurement property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004304 name: blood sedimentation def: "Measurement of rate of settling of erythrocytes in anticoagulated blood." [] synonym: "erythrocyte sedimentation" EXACT [] synonym: "erythrocyte sedimentation rate" EXACT [] xref: MeSH:D001799 xref: SNOMEDCT:416560009 is_a: EFO:0004503 ! hematological measurement is_a: EFO:0004872 ! inflammatory biomarker measurement relationship: IAO:0000136 CL:0000081 ! is_about blood cell relationship: IAO:0000136 EFO:0001941 ! is_about blood component relationship: IAO:0000136 GO:0006954 ! is_about inflammatory response property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004305 name: erythrocyte count def: "The number of red blood cells per unit volume in a sample of venous blood." [] synonym: "erythrocyte number" EXACT [] synonym: "RBC" EXACT [] synonym: "red blood cell count" EXACT [] xref: MeSH:D004906 xref: NCIt:C51946 xref: SNOMEDCT:14089001 is_a: EFO:0004306 ! erythrocyte indices is_a: EFO:0004586 ! complete blood cell count relationship: IAO:0000136 CL:0000081 ! is_about blood cell relationship: IAO:0000136 CL:0000232 ! is_about erythrocyte property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004306 name: erythrocyte indices def: "ERYTHROCYTE size and HEMOGLOBIN content or concentration, usually derived from ERYTHROCYTE COUNT; BLOOD hemoglobin concentration; and HEMATOCRIT. The indices include the mean corpuscular volume (MCV), the mean corpuscular hemoglobin (MCH), and the mean corpuscular hemoglobin concentration (MCHC)." [] synonym: "erythrocyte index" EXACT [] synonym: "erythrocyte indexes" EXACT [] synonym: "erythrocyte size determination" EXACT [] synonym: "RBC count" EXACT [] synonym: "red cell index" EXACT [] synonym: "red cell indices" EXACT [] xref: MeSH:D004909 is_a: EFO:0005047 ! erythrocyte measurement relationship: IAO:0000136 CL:0000081 ! is_about blood cell relationship: IAO:0000136 CL:0000232 ! is_about erythrocyte relationship: IAO:0000136 EFO:0001941 ! is_about blood component property_value: definition:citation http://www.nlm.nih.gov/medlineplus/ency/article/003644.htm xsd:string property_value: definition:citation http://www.nlm.nih.gov/medlineplus/ency/article/003648.htm xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004307 name: glucose tolerance test def: "A test to determine the ability of an individual to maintain homeostatis of blood glucose. It includes measuring blood glucose levels in a fasting state, and at prescribed intervals before and after oral glucose intake (75 or 100 g) or intravenous infusion (0.5 g/kg)." [] xref: MedDRA:10018432 xref: MeSH:D005951 xref: NCIt:C45946 xref: SNOMEDCT:113076002 is_a: EFO:0004468 ! glucose measurement relationship: IAO:0000136 CHEBI:17234 ! is_about glucose property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004308 name: leukocyte count def: "The number of WHITE BLOOD CELLS per unit volume in venous BLOOD. A differential leukocyte count measures the relative numbers of the different types of white cells." [] synonym: "WBC" EXACT [] synonym: "white blood cell count" EXACT [] synonym: "white cell count" EXACT [] xref: MedDRA:10080703 xref: MeSH:D007958 xref: NCIt:C51948 xref: SNOMEDCT:767002 is_a: EFO:0004586 ! complete blood cell count relationship: IAO:0000136 CL:0000081 ! is_about blood cell relationship: IAO:0000136 EFO:0001941 ! is_about blood component property_value: definition:citation http://www.nlm.nih.gov/medlineplus/ency/article/003643.htm xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004309 name: platelet count def: "The number of PLATELETS per unit volume in a sample of venous BLOOD." [] synonym: "blood platelet number" EXACT [] xref: MedDRA:10035525 xref: MeSH:D010976 xref: NCIt:C51951 xref: SNOMEDCT:61928009 is_a: EFO:0004586 ! complete blood cell count is_a: EFO:0005036 ! platelet measurement relationship: IAO:0000136 CL:0000081 ! is_about blood cell relationship: IAO:0000136 CL:0000233 ! is_about platelet relationship: IAO:0000136 EFO:0001941 ! is_about blood component property_value: definition:citation http://www.nlm.nih.gov/medlineplus/ency/article/003647.htm xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004310 name: partial thromboplastin time def: "The time required for the appearance of FIBRIN strands following the mixing of PLASMA with phospholipid platelet substitute (e.g., crude cephalins, soybean phosphatides). It is a test of the intrinsic pathway (factors VIII, IX, XI, and XII) and the common pathway (fibrinogen, prothrombin, factors V and X) of BLOOD COAGULATION. It is used as a screening test and to monitor HEPARIN therapy." [] synonym: "activated partial thromboplastin time" EXACT [] synonym: "Cephalin-Kaolin coagulation time" EXACT [] xref: MeSH:D010314 xref: NCIt:C38462 is_a: EFO:0004503 ! hematological measurement relationship: IAO:0000136 EFO:0001941 ! is_about blood component property_value: definition:citation http://www.nlm.nih.gov/medlineplus/ency/article/003653.htm xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004311 name: heart function measurement def: "A heart function measurement is a measurement of some heart function or process typically used to establish normal heart function or in process of diagnosis" [] synonym: "cardiac function tests" EXACT [] synonym: "heart function tests" EXACT [] xref: MeSH:D006334 is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease relationship: IAO:0000136 UBERON:0004535 ! is_about cardiovascular system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004312 name: vital capacity def: "The volume of air that is exhaled by a maximal expiration following a maximal inspiration." [] synonym: "forced vital capacity" EXACT [] synonym: "FVC" EXACT [] xref: MedDRA:10047579 xref: MeSH:D014797 xref: NCIt:C111361 xref: SNOMEDCT:268379003 is_a: EFO:0003892 ! pulmonary function measurement relationship: IAO:0000136 UBERON:0001004 ! is_about respiratory system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004313 name: maximal midexpiratory flow rate def: "Measurement of rate of airflow over the middle half of a FORCED VITAL CAPACITY determination (from the 25 percent level to the 75 percent level). Common abbreviations are MMFR and FEF 25%-75%." [] synonym: "FEF25-75%" EXACT [] xref: MeSH:D008450 is_a: EFO:0003892 ! pulmonary function measurement is_a: EFO:0006841 ! respiratory disease biomarker relationship: IAO:0000136 EFO:0000684 ! is_about respiratory system disease relationship: IAO:0000136 UBERON:0001004 ! is_about respiratory system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004314 name: forced expiratory volume def: "Measure of the maximum amount of air that can be expelled in a given number of seconds during a FORCED VITAL CAPACITY determination . It is usually given as FEV followed by a subscript indicating the number of seconds over which the measurement is made, although it is sometimes given as a percentage of forced vital capacity." [] synonym: "FEV1" EXACT [] synonym: "FEVt" EXACT [] synonym: "timed vital capacity" EXACT [] xref: MedDRA:10016984 xref: MeSH:D005541 xref: NCIt:C120933 is_a: EFO:0003892 ! pulmonary function measurement is_a: EFO:0006841 ! respiratory disease biomarker relationship: IAO:0000136 EFO:0000684 ! is_about respiratory system disease relationship: IAO:0000136 UBERON:0001004 ! is_about respiratory system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004315 name: drinking behavior def: "Behaviors associated with the ingesting of water and other liquids; includes rhythmic patterns of drinking (time intervals - onset and duration), frequency and satiety." [] xref: MeSH:D004327 is_a: GO:0007610 ! behavior property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004316 name: exploratory behavior def: "The tendency to explore or investigate a novel environment. It is considered a motivation not clearly distinguishable from curiosity." [] synonym: "curosity" EXACT [] synonym: "novelty-seeking behavior" EXACT [] xref: MeSH:D005106 is_a: GO:0007610 ! behavior property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004317 name: extraversion def: "A state in which attention is largely directed outward from the self." [] synonym: "extraversion (psychology)" EXACT [] synonym: "extroversion" EXACT [] xref: MeSH:D005120 is_a: GO:0007610 ! behavior property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004318 name: smoking behavior def: "Inhaling and exhaling the smoke of tobacco or something similar to tobacco." [] synonym: "smoking" EXACT [] xref: MeSH:D012907 xref: NCIt:C20134 is_a: GO:0007610 ! behavior property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004319 name: smoking cessation def: "Discontinuation of the habit of smoking, the inhaling and exhaling of tobacco smoke." [] xref: MeSH:D016540 xref: NCIt:C17427 is_a: GO:0007610 ! behavior property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004320 name: suicidal ideation def: "A risk factor for suicide attempts and completions, it is the most common of all suicidal behavior, but only a minority of ideators engage in overt self-harm." [] synonym: "suicidal thought" EXACT [] xref: ICD9:V62.84 xref: MedDRA:10042458 xref: MeSH:D059020 xref: NCIt:C80102 is_a: EFO:0007623 ! suicide behaviour property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004321 name: attempted suicide def: "The unsuccessful attempt to kill oneself." [] synonym: "suicide, attempted" EXACT [] xref: MedDRA:10003728 xref: MeSH:D013406 is_a: EFO:0007623 ! suicide behaviour property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004323 name: mental process def: "Conceptual functions or thinking in all its forms." [] synonym: "human information processing" EXACT [] synonym: "Mental Processes" EXACT [] synonym: "mental processes" EXACT [] xref: MeSH:D008606 xref: NCIt:C16840 is_a: GO:0008150 ! biological_process property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004324 name: body weights and measures def: "Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." [] synonym: "body measures" EXACT [] xref: MeSH:D001837 is_a: EFO:0004302 ! anthropometric measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004325 name: blood pressure def: "PRESSURE of the BLOOD on the ARTERIES and other BLOOD VESSELS." [] xref: MedDRA:10005727 xref: MeSH:D001794 xref: NCIt:C54706 xref: SNOMEDCT:75367002 is_a: EFO:0004303 ! vital signs property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004326 name: heart rate def: "The number of times the HEART VENTRICLES contract per unit of time, usually per minute." [] synonym: "cardiac chronotropy" EXACT [] synonym: "pulse rate" EXACT [] xref: MedDRA:10019299 xref: MeSH:D006339 xref: NCIt:C49677 xref: SNOMEDCT:364075005 is_a: EFO:0004303 ! vital signs is_a: EFO:0004311 ! heart function measurement relationship: IAO:0000136 UBERON:0000948 ! is_about heart property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004327 name: electrocardiography def: "Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY." [] synonym: "EKG" EXACT [] synonym: "electrocardiogram" EXACT [] xref: ICD9:89.52 xref: MeSH:D004562 xref: NCIt:C38053 is_a: EFO:0004311 ! heart function measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004328 name: exercise test def: "Controlled physical activity, more strenuous than at rest, which is performed in order to allow assessment of physiological functions, particularly cardiovascular and pulmonary, but also aerobic capacity. Maximal (most intense) exercise is usually required but submaximal exercise is also used. The intensity of exercise is often graded, using criteria such as rate of work done, oxygen consumption, and heart rate." [] synonym: "stress test" EXACT [] xref: MedDRA:10015652 xref: MeSH:D005080 is_a: EFO:0004311 ! heart function measurement property_value: definition:citation http://www.nlm.nih.gov/medlineplus/ency/article/003878.htm xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004329 name: alcohol drinking def: "Behaviors associated with the ingesting of alcoholic beverages, including social drinking." [] synonym: "alcohol consumption" EXACT [] xref: MeSH:D000428 xref: NCIt:C16273 is_a: EFO:0004315 ! drinking behavior property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004330 name: coffee consumption def: "Behaviors associated with the ingesting of coffee" [] synonym: "caffeine consumption" EXACT [] is_a: EFO:0004315 ! drinking behavior property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004331 name: obsolete_tooth eruption def: "The emergence of a tooth from within its follicle in the ALVEOLAR PROCESS of the MAXILLA or MANDIBLE into the ORAL CAVITY. (Boucher's Clinical Dental Terminology, 4th ed)" [] synonym: "permanent tooth development" EXACT [] synonym: "teething" EXACT [] xref: MeSH:D014078 property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Now imported from GO" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/GO_0044691 [Term] id: EFO:0004333 name: episodic memory def: "Type of declarative memory, consisting of personal memory in contrast to general knowledge." [] synonym: "autobiographical memory" EXACT [] synonym: "Memory, Episodic" EXACT [] synonym: "prospective memory" EXACT [] xref: MeSH:D061212 xref: SNOMEDCT:311553000 is_a: EFO:0004323 ! mental process property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004334 name: intuition def: "Knowing or understanding without conscious use of reasoning. (Thesaurus of ERIC Descriptors, 1994)" [] xref: MeSH:D019545 xref: SNOMEDCT:85721008 is_a: EFO:0003925 ! cognition property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004335 name: short-term memory def: "Remembrance of information for a few seconds to hours." [] synonym: "immediate recall" EXACT [] synonym: "memory (short-term)" EXACT [] synonym: "memory, short-term" EXACT [] synonym: "working memory" EXACT [] xref: MeSH:D008570 xref: NCIt:C88418 is_a: EFO:0004323 ! mental process property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004336 name: speech perception def: "The process whereby an utterance is decoded into a representation in terms of linguistic units (sequences of phonetic segments which combine to form lexical and grammatical morphemes)." [] synonym: "speech discrimination" EXACT [] xref: MeSH:D013067 is_a: EFO:0003925 ! cognition property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004337 name: intelligence def: "The ability to learn and to deal with new situations and to deal effectively with tasks involving abstractions." [] synonym: "cognitive ability" EXACT [] synonym: "general cognitive ability" EXACT [] synonym: "general cognitive function" EXACT [] xref: MeSH:D007360 xref: SNOMEDCT:22851009 is_a: EFO:0003925 ! cognition property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004338 name: body weight def: "The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms." [] synonym: "weight" EXACT [] xref: MeSH:D001835 xref: NCIt:C81328 xref: SNOMEDCT:27113001 is_a: EFO:0004324 ! body weights and measures property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004339 name: body height def: "The distance from the sole to the crown of the head with body standing on a flat surface and fully extended." [] synonym: "height" EXACT [] xref: MedDRA:10005891 xref: MeSH:D001827 xref: NCIt:C25347 is_a: EFO:0004324 ! body weights and measures property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004340 name: body mass index def: "An indicator of body density as determined by the relationship of BODY WEIGHT to BODY HEIGHT. BMI=weight (kg)/height squared (m2). BMI correlates with body fat (ADIPOSE TISSUE). Their relationship varies with age and gender. For adults, BMI falls into these categories: below 18.5 (underweight); 18.5-24.9 (normal); 25.0-29.9 (overweight); 30.0 and above (obese). (National Center for Health Statistics, Centers for Disease Control and Prevention)" [] synonym: "BMI" EXACT [] synonym: "Quetelet's Index" EXACT [] xref: ICD9:V85-V85.99 xref: MedDRA:10005894 xref: MeSH:D015992 xref: NCIt:C16358 xref: SNOMEDCT:60621009 is_a: EFO:0004324 ! body weights and measures relationship: IAO:0000136 EFO:0001073 ! is_about obesity property_value: definition:citation https://en.wikipedia.org/wiki/Body_mass_index xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004341 name: body fat distribution def: "Deposits of ADIPOSE TISSUE throughout the body. The pattern of fat deposits in the body regions is an indicator of health status. Excess ABDOMINAL FAT increases health risks more than excess fat around the hips or thighs, therefore, WAIST-HIP RATIO is often used to determine health risks." [] synonym: "body fat patterning" EXACT [] xref: MeSH:D050218 is_a: EFO:0005106 ! body composition measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004342 name: waist circumference def: "The measurement around the body at the level of the ABDOMEN and just above the hip bone. The measurement is usually taken immediately after exhalation." [] xref: MedDRA:10074998 xref: MeSH:D055105 xref: NCIt:C100948 xref: SNOMEDCT:276361009 is_a: EFO:0004324 ! body weights and measures property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004343 name: waist-hip ratio def: "The waist circumference measurement divided by the hip circumference measurement. For both men and women, a waist-to-hip ratio (WHR) of 1.0 or higher is considered \"at risk\" for undesirable health consequences, such as heart disease and ailments associated with OVERWEIGHT. A healthy WHR is 0.90 or less for men, and 0.80 or less for women. (National Center for Chronic Disease Prevention and Health Promotion, 2004)" [] xref: MeSH:D049629 xref: NCIt:C17651 is_a: EFO:0007861 ! body ratio measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004344 name: birth weight def: "The mass or quantity of heaviness of an individual at BIRTH. It is expressed by units of pounds or kilograms." [] synonym: "birthweight" EXACT [] xref: MeSH:D001724 xref: NCIt:C76325 xref: SNOMEDCT:364589006 is_a: EFO:0004338 ! body weight property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004345 name: corneal topography def: "The measurement of curvature and shape of the anterior surface of the cornea using techniques such as keratometry, keratoscopy, photokeratoscopy, profile photography, computer-assisted image processing and videokeratography. This measurement is often applied in the fitting of contact lenses and in diagnosing corneal diseases or corneal changes including keratoconus, which occur after keratotomy and keratoplasty." [] synonym: "videokeratography" EXACT [] xref: MedDRA:10011052 xref: MeSH:D019781 xref: SNOMEDCT:252830007 is_a: EFO:0004731 ! eye measurement relationship: IAO:0000136 EFO:0003966 ! is_about eye disease relationship: IAO:0000136 UBERON:0000970 ! is_about eye property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004346 name: neuroimaging measurement def: "Non-invasive methods of visualizing and measuring the CENTRAL NERVOUS SYSTEM, especially the brain, by various imaging modalities e.g. CT scan" [] comment: is about MeSH:D059906 synonym: "brain imaging" EXACT [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 UBERON:0001017 ! is_about central nervous system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004347 name: addictive behaviour def: "The observable, measurable, and often pathological activity of an organism that portrays its inability to overcome a habit resulting in an insatiable craving for a substance or for performing certain acts. The addictive behavior includes the emotional and physical overdependence on the object of habit in increasing amount or frequency." [] synonym: "addictive behavior" EXACT [] synonym: "behavior, addictive" EXACT [] xref: MedDRA:10079410 xref: MeSH:D016739 is_a: GO:0007610 ! behavior property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004348 name: hematocrit def: "The volume of packed RED BLOOD CELLS in a blood specimen. The volume is measured by centrifugation in a tube with graduated markings, or with automated blood cell counters. It is an indicator of erythrocyte status in disease. For example, ANEMIA shows a low value; POLYCYTHEMIA, a high value." [] synonym: "Ht" EXACT [] synonym: "packed erythrocyte volume" EXACT [] synonym: "packed red-cell volume" EXACT [] xref: MedDRA:10019422 xref: MeSH:D006400 is_a: EFO:0004503 ! hematological measurement relationship: IAO:0000136 CL:0000081 ! is_about blood cell relationship: IAO:0000136 EFO:0001941 ! is_about blood component property_value: definition:citation http://www.nlm.nih.gov/medlineplus/ency/article/003646.htm xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004350 name: reasoning def: "Thinking that is coherent and logical, using knowledge to evaluate the truth value of a proposition." [] xref: NCIt:C86584 is_a: EFO:0003925 ! cognition property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004351 name: resting heart rate def: "quantification of the number of times the heart beats in a given time interval, usually a minute, while the body is at rest" [] xref: SNOMEDCT:444981005 is_a: EFO:0004326 ! heart rate property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004352 name: mortality def: "Quantification of the number of deaths in a population." [] synonym: "mortality measurement" EXACT [] synonym: "mortality rate" EXACT [] xref: MeSH:D009026 xref: MeSH:Q000401 xref: NCIt:C16880 xref: SNOMEDCT:409651001 is_a: EFO:0004557 ! population measurement relationship: IAO:0000136 OBI:0000181 ! is_about population property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004354 name: circadian rhythm def: "The regular recurrence, in cycles of about 24 hours, of biological processes or activities, such as sensitivity to drugs and stimuli, hormone secretion, sleeping, and feeding." [] synonym: "diurnal rhythm" EXACT [] synonym: "twenty-four hour rhythm" EXACT [] xref: MeSH:D002940 xref: SNOMEDCT:30920001 is_a: GO:0008150 ! biological_process property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004355 name: obsolete_sensation def: "The process in which specialized SENSORY RECEPTOR CELLS transduce peripheral stimuli (physical or chemical) into NERVE IMPULSES which are then transmitted to the various sensory centers in the CENTRAL NERVOUS SYSTEM." [] xref: MeSH:D012677 property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced by GO import, sensory perception" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/GO_0007600 [Term] id: EFO:0004356 name: obsolete_taste def: "The ability to detect chemicals through gustatory receptors in the mouth, including those on the TONGUE; the PALATE; the PHARYNX; and the EPIGLOTTIS." [] synonym: "taste sense" EXACT [] xref: MeSH:D013649 property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced by sensory perception of taste, imported from GO" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/GO_0050909 [Term] id: EFO:0004357 name: electroencephalogram measurement def: "Am electroencephalogram measurement measures the wave-like oscillations of electric potential between parts of the brain." [] synonym: "brain oscillations" EXACT [] synonym: "brain waves" EXACT [] synonym: "brainwaves" EXACT [] synonym: "electroencephalogram traits" EXACT [] xref: MeSH:D058256 is_a: EFO:0004464 ! brain measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004358 name: event-related brain oscillation def: "The measurement of wave-like oscillations of electric potential between parts of the brain recorded by EEG that are the result of a specific stimulus" [] synonym: "event-related brain oscillations" EXACT [] xref: PERSON: Dani Welter is_a: EFO:0004357 ! electroencephalogram measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004359 name: telomere def: "A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs." [] synonym: "telomeres" EXACT [] xref: MeSH:D016615 xref: NCIt:C13295 is_a: BFO:0000040 ! material entity property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004362 name: psychomotor performance def: "The coordination of a sensory or ideational (cognitive) process and a motor activity." [] synonym: "perceptual motor performance" EXACT [] synonym: "sensory motor performance" EXACT [] xref: MeSH:D011597 is_a: GO:0008150 ! biological_process property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004363 name: information processing speed def: "time taken to analyse or transform input information in order to produce information as output" [] synonym: "processing speed" EXACT [] xref: SNOMEDCT:304685003 is_a: EFO:0003925 ! cognition property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004364 name: neurobehavioral manifestations def: "Signs and symptoms of higher cortical dysfunction caused by organic conditions. These include certain behavioral alterations and impairments of skills involved in the acquisition, processing, and utilization of knowledge or information." [] synonym: "cognitive manifestations" EXACT [] synonym: "cognitive symptoms" EXACT [] synonym: "neurobehavioral signs and symptoms" EXACT [] xref: MeSH:D019954 is_a: HP:0000708 ! Atypical behavior property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004365 name: personality trait def: "The characteristics in behavior that a certain person has." [] synonym: "personality dimension" EXACT [] synonym: "personality dimensions" EXACT [] xref: NCIt:C17713 is_a: BFO:0000019 ! quality property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004366 name: social desirability def: "A personality trait rendering the individual acceptable in social or interpersonal relations. It is related to social acceptance, social approval, popularity, social status, leadership qualities, or any quality making him a socially desirable companion." [] synonym: "social worth" EXACT [] xref: MeSH:D012928 is_a: EFO:0004365 ! personality trait property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004367 name: induces sterile inflammation is_a: CHEBI:24432 ! biological role [Term] id: EFO:0004368 name: Number of molecules is_a: UO:0000000 ! unit [Term] id: EFO:0004369 name: obsolete_microgram per milliliter property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicated" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UO_0000274 [Term] id: EFO:0004370 name: microgram per square centimeter xref: NCIt:C67311 is_a: UO:0000051 ! concentration unit [Term] id: EFO:0004371 name: gram per kilogram per day xref: NCIt:C66975 is_a: UO:0000051 ! concentration unit [Term] id: EFO:0004373 name: milligram per square meter xref: NCIt:C67402 is_a: UO:0000051 ! concentration unit [Term] id: EFO:0004374 name: milligram per deciliter xref: NCIt:C67015 is_a: UO:0000051 ! concentration unit [Term] id: EFO:0004378 name: microgram per day xref: NCIt:C71205 is_a: UO:0000051 ! concentration unit [Term] id: EFO:0004379 name: milli-International Unit per milliliter is_a: UO:0000000 ! unit [Term] id: EFO:0004381 name: mole per liter xref: NCIt:C48555 is_a: UO:0000055 ! molar mass unit [Term] id: EFO:0004382 name: nanogram per liter xref: NCIt:C67327 is_a: UO:0000051 ! concentration unit [Term] id: EFO:0004383 name: nanogram per microliter is_a: UO:0000051 ! concentration unit [Term] id: EFO:0004384 name: weight percent by volume is_a: UO:0000051 ! concentration unit [Term] id: EFO:0004385 name: picogram per milliliter is_a: UO:0000051 ! concentration unit [Term] id: EFO:0004386 name: total particulate matter per liter is_a: UO:0000051 ! concentration unit [Term] id: EFO:0004387 name: inch xref: NCIt:C48500 is_a: UO:0000001 ! length unit [Term] id: EFO:0004388 name: picomole per 10^6 cells is_a: UO:0000051 ! concentration unit [Term] id: EFO:0004389 name: UCH-1 def: "Human chordoma cell line." [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line property_value: definition:citation https://www.atcc.org/Products/All/CRL-3217.aspx xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004390 name: mouse postnatal is_a: EFO:0002948 ! postnatal [Term] id: EFO:0004391 name: Theiler stage 27 def: "Theiler stage 27 is a newborn mouse." [] is_a: EFO:0004390 ! mouse postnatal property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004393 name: Theiler stage 1 is_a: EFO:0002543 ! mouse prenatal [Term] id: EFO:0004394 name: Theiler stage 2 is_a: EFO:0002543 ! mouse prenatal [Term] id: EFO:0004395 name: Theiler stage 3 is_a: EFO:0002543 ! mouse prenatal [Term] id: EFO:0004396 name: Theiler stage 4 is_a: EFO:0002543 ! mouse prenatal [Term] id: EFO:0004397 name: Theiler stage 5 is_a: EFO:0002543 ! mouse prenatal [Term] id: EFO:0004398 name: Theiler stage 6 is_a: EFO:0002543 ! mouse prenatal [Term] id: EFO:0004399 name: Theiler stage 7 is_a: EFO:0002543 ! mouse prenatal [Term] id: EFO:0004400 name: Theiler stage 8 is_a: EFO:0002543 ! mouse prenatal [Term] id: EFO:0004401 name: Theiler stage 9 is_a: EFO:0002543 ! mouse prenatal [Term] id: EFO:0004402 name: Theiler stage 10 is_a: EFO:0002543 ! mouse prenatal [Term] id: EFO:0004403 name: Theiler stage 12 is_a: EFO:0002543 ! mouse prenatal [Term] id: EFO:0004404 name: Theiler stage 13 is_a: EFO:0002543 ! mouse prenatal [Term] id: EFO:0004405 name: Theiler stage 14 is_a: EFO:0002543 ! mouse prenatal [Term] id: EFO:0004406 name: Theiler stage 15 is_a: EFO:0002543 ! mouse prenatal [Term] id: EFO:0004407 name: Theiler stage 16 is_a: EFO:0002543 ! mouse prenatal [Term] id: EFO:0004408 name: Theiler stage 18 is_a: EFO:0002543 ! mouse prenatal [Term] id: EFO:0004409 name: Theiler stage 19 is_a: EFO:0002543 ! mouse prenatal [Term] id: EFO:0004410 name: Theiler stage 20 is_a: EFO:0002543 ! mouse prenatal [Term] id: EFO:0004411 name: Theiler stage 23 is_a: EFO:0002543 ! mouse prenatal [Term] id: EFO:0004412 name: Theiler stage 25 is_a: EFO:0002543 ! mouse prenatal [Term] id: EFO:0004413 name: microliter per liter synonym: "ul/l" EXACT [] is_a: UO:0000051 ! concentration unit property_value: IAO:0000117 "Jon Ison" xsd:string [Term] id: EFO:0004414 name: joule per square meter synonym: "J/m^[2]" EXACT [] is_a: UO:0000007 ! luminous intensity unit property_value: IAO:0000117 "Jon Ison" xsd:string [Term] id: EFO:0004415 name: ionic salt def: "An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." [] is_a: CHEBI:24431 ! chemical entity property_value: IAO:0000117 "Jon Ison" xsd:string [Term] id: EFO:0004416 name: acid xref: NCIt:C48057 xref: SNOMEDCT:34957004 is_a: CHEBI:24431 ! chemical entity [Term] id: EFO:0004417 name: amide xref: SNOMEDCT:31414002 is_a: CHEBI:24431 ! chemical entity [Term] id: EFO:0004418 name: unit of flow rate def: "A unit which measures substance that passes through or onto a given area per unit of time." [] xref: NCIt:C48567 is_a: UO:0000046 ! derived unit property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004419 name: milligram per day def: "A unit of mass flow rate equivalent to the rate at which one thousandth of a gram of matter crosses a given surface or is delivered to a given object or space over a period of time equal to twenty four hours. Milligram per twenty four hours is also a dose administration rate unit equal to the rate at which one thousandth of a gram of a product is administered per unit of time equal to twenty four hours." [] synonym: "mg per day" EXACT [] synonym: "Milligram per 24 Hours" EXACT [] xref: NCIt:C67399 is_a: EFO:0004418 ! unit of flow rate property_value: definition:citation http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Milligram_per_24_Hours xsd:string [Term] id: EFO:0004420 name: genome def: "A genome is the full genetic content of an organism, contained in either DNA or RNA (such as for viruses)." [] synonym: "whole genome" EXACT [] xref: MeSH:D016678 xref: NCIt:C16629 xref: SNOMEDCT:18470003 is_a: BFO:0000040 ! material entity property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004421 name: transcriptome def: "The transcriptome is the set of all RNA molecules, including mRNA, rRNA, tRNA, and other non-coding RNA produced in one or a population of cells." [] synonym: "whole transcriptome" EXACT [] xref: MeSH:D059467 is_a: BFO:0000040 ! material entity property_value: definition:citation http://en.wikipedia.org/wiki/Transcriptome xsd:string [Term] id: EFO:0004422 name: exome def: "The exome is the part of the genome formed by the complete content of exons, coding portions of genes in the genome that are expressed." [] synonym: "whole exome" EXACT [] xref: MeSH:D059472 xref: NCIt:C101296 is_a: BFO:0000040 ! material entity relationship: part_of EFO:0004420 ! genome property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004423 name: exon def: "An exon is a nucleic acid sequence that is represented in the mature form of an RNA molecule either after portions of a precursor RNA (introns) have been removed by cis-splicing or when two or more precursor RNA molecules have been ligated by trans-splicing." [] synonym: "exonic region" EXACT [] xref: NCIt:C13231 xref: SNOMEDCT:33091005 is_a: BFO:0000040 ! material entity relationship: part_of EFO:0004422 ! exome [Term] id: EFO:0004424 name: family relationship is_a: BFO:0000016 ! disposition [Term] id: EFO:0004425 name: initial time point def: "The first time point measured at the start of some process." [] synonym: "initial timepoint" EXACT [] is_a: EFO:0000724 ! timepoint property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004426 name: karyotype def: "A karyotype is the number and appearance of chromosomes in the nucleus of a eukaryotic cell." [] xref: MeSH:D059785 xref: NCIt:C25215 is_a: BFO:0000019 ! quality property_value: definition:citation http://en.wikipedia.org/wiki/Karyotype xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004427 name: joule per square centimeter synonym: "J/cm^[2]" EXACT [] xref: NCIt:C67357 is_a: UO:0000007 ! luminous intensity unit property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004428 name: FAIRE-seq def: "FAIRE-Seq (Formaldehyde-Assisted Isolation of Regulatory Elements) is an assay used for determining the sequences of DNA regions associated with regulatory activity. This is enabled by the isolation of nucleosome-depleted DNA from total genomic dna to access actively transcribed dna." [] xref: NCIt:C106051 is_a: EFO:0001456 ! DNA assay is_a: EFO:0003740 ! assay by sequencer relationship: RO:0000057 EFO:0003739 ! has_participant sequencer property_value: definition:citation "Giresi, PG; Kim, J, McDaniell, RM, Iyer, VR, Lieb, JD (2007 Jun). FAIRE (Formaldehyde-Assisted Isolation of Regulatory Elements) isolates active regulatory elements from human chromatin.. Genome research 17 (6): 877–85. doi:10.1101/gr.5533506." xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004429 name: inbred def: "Property of an organism which indicates that the organism's parents were genetically related (potentially for several generations). Inbreeding results in closer homozygosity." [] is_a: BFO:0000019 ! quality property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004430 name: outbred def: "Propety of an organism which indicates that the organism's parents are not closely related (e.g. family members)." [] is_a: BFO:0000019 ! quality [Term] id: EFO:0004431 name: 454 GS sequencer def: "The 454 GS is a GS high-throughput sequencing machine developed by 454 Life Sciences." [] is_a: EFO:0002699 ! high throughput sequencer [Term] id: EFO:0004432 name: 454 GS FLX sequencer is_a: EFO:0002699 ! high throughput sequencer [Term] id: EFO:0004433 name: 454 GS FLX Titanium sequencer def: "The 454 GS FLX Titanium sequencer is a GS high-throughput sequencing machine developed by 454 Life Sciences." [] is_a: EFO:0002699 ! high throughput sequencer [Term] id: EFO:0004434 name: 454 GS Junior sequencer def: "The 454 GS Junior is a GS high-throughput sequencing machine developed by 454 Life Sciences." [] is_a: EFO:0002699 ! high throughput sequencer [Term] id: EFO:0004435 name: AB SOLiD System is_a: EFO:0002699 ! high throughput sequencer [Term] id: EFO:0004436 name: AB SOLiD 5500xl is_a: EFO:0002699 ! high throughput sequencer [Term] id: EFO:0004437 name: AB SOLiD PI System is_a: EFO:0002699 ! high throughput sequencer [Term] id: EFO:0004438 name: AB SOLiD 4 System is_a: EFO:0002699 ! high throughput sequencer [Term] id: EFO:0004439 name: AB SOLiD System 3.0 is_a: EFO:0002699 ! high throughput sequencer [Term] id: EFO:0004440 name: AB SOLiD 5500 is_a: EFO:0002699 ! high throughput sequencer [Term] id: EFO:0004441 name: AB SOLiD 4hq System is_a: EFO:0002699 ! high throughput sequencer [Term] id: EFO:0004442 name: AB SOLiD System 2.0 is_a: EFO:0002699 ! high throughput sequencer [Term] id: EFO:0004443 name: material supplier def: "An organization which has supplied material to another individual or organization, such as to be used in a biomedical investigation." [] synonym: "biosource provider" EXACT [] is_a: OBI:0000245 ! organization property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004444 name: environmental history def: "Information concerning the envinonrment a material entity has been exposed to, such as an organism from a lake." [] is_a: IAO:0000030 ! information entity property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004445 name: cohort def: "A cohort is a collection of material entities grouped together based on some common property of interest, such as age or disease stage." [] xref: NCIt:C61512 is_a: OBI:0000181 ! population property_value: IAO:0000117 "Functional Genomics group" xsd:string [Term] id: EFO:0004446 name: biological macromolecule def: "Anatomical structure which has as its parts one or more ordered aggregates of nucleotide, amino acid fatty acid or sugar molecules bonded to one another." [] is_a: BFO:0000040 ! material entity [Term] id: EFO:0004447 name: peer review quality control role def: "The role of a material which has been reviewed under peer review for quality control purposes." [] is_a: BFO:0000023 ! role property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004451 name: obsolete_Arabidopsis Growth Stage 6.30 def: "30% of flowers to be produced have opened" [] property_value: definition:citation "Boyes DC et al, (2001) Growth Stage–Based Phenotypic Analysis of Arabidopsis: A Model for High Throughput Functional Genomics in Plants. The Plant Cell 13, 1499-1510." xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Class is an EFO specific synonym of a PO term which replaces this term. FL.01 1/4 of flowers open stage, PO:000703\n" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_000703 [Term] id: EFO:0004452 name: obsolete_Arabidopsis Growth Stage 6.50 def: "50% of flowers to be produced have opened" [] property_value: definition:citation "Boyes DC et al, (2001) Growth Stage–Based Phenotypic Analysis of Arabidopsis: A Model for High Throughput Functional Genomics in Plants. The Plant Cell 13, 1499-1510." xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "EFO class is a synonym of a PO term which replaces this class.\nFL.02 1/2 of flowers open stage, PO:0007053" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0007053 [Term] id: EFO:0004453 name: obsolete_Arabidopsis Growth Stage 8.00 property_value: definition:citation "Boyes DC et al, (2001) Growth Stage–Based Phenotypic Analysis of Arabidopsis: A Model for High Throughput Functional Genomics in Plants. The Plant Cell 13, 1499-1510." xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "EFO term is PO synonym. Replaced by term beginning of whole fruit ripening PO:0007036" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0007036 [Term] id: EFO:0004454 name: obsolete_Arabidopsis Growth Stage 9.70 def: "Senescence complete; ready for seed harvest." [] property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "EFO term is a synonym of a PO term, sporophyte senescent stage PO:0007017" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0007017 [Term] id: EFO:0004455 name: cot filtration def: "Cot filtration is an experimental process that uses DNA renaturation kinetics (i.e. Cot analysis) to separate repetitive DNA sequences that dominate many eukaryotic genomes from low-copy sequences which are more gene rich." [] is_a: EFO:0002694 ! experimental process property_value: definition:citation "Peterson DG (2005) Reduced representation strategies and their application to plant genomes. In: The Handbook of Plant Genome Mapping: Genetic and Physical Mapping. Edited by: Meksem K, Kahl G. WILEY-VCH Verlag pp. 307-335." xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004456 name: reduce cholesterol levels is_a: EFO:0001899 ! drug role [Term] id: EFO:0004457 name: carcinogen role def: "Any chemical, biological or physical agents that increase the risk of neoplasms in humans or animals. Carcinogens include natural or synthesized compounds, certain viruses, and various sources of radiation. A carcinogen may directly alter the genetic material of cells (genotoxic), thereby initiating or promoting the process of malignant transformation; it also may induce cancers by mechanisms that do not involve a direct alteration of cellular genetic material (non-genotoxic). (NCI04)" [] synonym: "Carcinogen" EXACT [] synonym: "carcinogenic agent" EXACT [] xref: NCIt:C347 is_a: BFO:0000023 ! role property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004458 name: C-reactive protein measurement def: "C-reactive protein (CRP) measurement is a measurement of the level of C-reactive protein in the blood. Levels are known to rise in response to inflammation, CRP is therefore used as a clinical measure of inflammation. The measurement is used in the process of clinical diagnosis as high levels of CRP are associated with cardiovascular disease, diabetes and hypertension and in some cancers." [] comment: is about MeSH:D002097 synonym: "C-reactive protein level" EXACT [] xref: NCIt:C64548 xref: SNOMEDCT:55235003 is_a: EFO:0004747 ! protein measurement is_a: EFO:0004872 ! inflammatory biomarker measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 GO:0006954 ! is_about inflammatory response property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004459 name: ferritin measurement def: "A ferritin measurement a is measurement of ferritin level in serum as an indicator of iron metabolism" [] synonym: "ferritin level" EXACT [] xref: NCIt:C74737 xref: SNOMEDCT:489004 is_a: EFO:0004461 ! iron biomarker measurement relationship: IAO:0000136 HP:0011031 ! is_about Abnormality of iron homeostasis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004460 name: soluble transferrin receptor measurement def: "A soluble transferrin receptor measurement (sTfR) is a measure of the level of the Soluble transferrin receptor protein in blood as a measure of iron metabolism." [] synonym: "soluble transferrin receptor level" EXACT [] synonym: "sTfR level" EXACT [] xref: NCIt:C100438 is_a: EFO:0004461 ! iron biomarker measurement is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 HP:0011031 ! is_about Abnormality of iron homeostasis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004461 name: iron biomarker measurement def: "An iron biomarker measurement is a measurement of some molecule e.g. protein or metabolite which is used as a measure of iron metabolism" [] synonym: "iron biomarker level" EXACT [] synonym: "iron status biomarkers" EXACT [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004462 name: PR interval def: "A PR interval is an electrocardiography measurement which measures from the beginning of the P wave to the beginning of the QRS complex in the heart's electrical cycle" [] synonym: "PQ interval" EXACT [] xref: https://biobank.ndph.ox.ac.uk/showcase/field.cgi?id=22330 xref: NCIt:C83502 is_a: EFO:0004327 ! electrocardiography relationship: IAO:0000136 UBERON:0004535 ! is_about cardiovascular system property_value: definition:citation https://en.wikipedia.org/wiki/PR_interval xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004463 name: angiotensin converting enzyme activity measurement def: "ACE activity level" [] def: "An angiotensin converting enzyme (ACE) activity measurement measures the ACE activity in the blood. ACE mediates extracellular volume by participation in the renin-angiotensin system and is a therefore target for ACE inhibitors which aim to reduce blood pressure. Variants in the ACE gene are associated with ischemic stroke, intracerebral hemorrhage, tubular dygenesis and microvascular complications of diabetes." [] def: "angiotensin converting ezyme activity level" [] synonym: "ACE activity measurement" EXACT [] synonym: "Angiotensin-converting enzyme activity" EXACT [] is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 OBI:0000427 ! is_about enzyme property_value: definition:citation http://www.nlm.nih.gov/medlineplus/ency/article/003567.htm xsd:string property_value: definition:citation http://www.uniprot.org/uniprot/J3KRQ0 xsd:string property_value: definition:citation https://en.wikipedia.org/wiki/Angiotensin-converting_enzyme xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004464 name: brain measurement is_a: EFO:0001444 ! measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004465 name: fasting blood glucose measurement def: "An fasting blood glucose measurement is a measurement of glucose in the blood of a patient at some defined time point after eating." [] synonym: "fasting blood glucose level" EXACT [] synonym: "fasting glucose-related traits" EXACT [] synonym: "fasting plasma glucose" EXACT [] xref: SNOMEDCT:271062006 is_a: EFO:0004468 ! glucose measurement relationship: IAO:0000136 CHEBI:17234 ! is_about glucose relationship: IAO:0000136 MONDO:0005148 ! is_about type 2 diabetes mellitus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004466 name: fasting blood insulin measurement def: "A fasting blood insulin measurement is a measurement of insulin in the blood at a predetermined point after the patient has fasted" [] synonym: "fasting blood insulin" EXACT [] synonym: "fasting blood insulin level" EXACT [] synonym: "fasting insulin-related traits" EXACT [] is_a: EFO:0004467 ! insulin measurement relationship: IAO:0000136 CHEBI:5931 ! is_about insulin (human) property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004467 name: insulin measurement def: "An insulin measurement is a measure of insulin typically performed in the diagnosis of patients" [] synonym: "insulin level" EXACT [] xref: NCIt:C74788 xref: SNOMEDCT:16890009 is_a: EFO:0004730 ! hormone measurement is_a: EFO:0004747 ! protein measurement is_a: EFO:0006842 ! diabetes mellitus biomarker intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 CHEBI:5931 ! is_about insulin (human) relationship: IAO:0000136 CHEBI:5931 ! is_about insulin (human) relationship: IAO:0000136 EFO:0000400 ! is_about diabetes mellitus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004468 name: glucose measurement def: "Is any quantification of glucose." [] synonym: "glucose level" EXACT [] xref: ICD10:R73 xref: NCIt:C105585 xref: SNOMEDCT:36048009 is_a: EFO:0006842 ! diabetes mellitus biomarker intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 CHEBI:17234 ! is_about glucose relationship: IAO:0000136 MONDO:0005148 ! is_about type 2 diabetes mellitus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004469 name: HOMA-B def: "The HOMA-B measurement employs the homeostatic model assessment (HOMA) to quantify beta-cell function." [] synonym: "homeostasis model assessment B cell function" EXACT [] is_a: EFO:0004467 ! insulin measurement is_a: EFO:0004468 ! glucose measurement relationship: IAO:0000136 CHEBI:17234 ! is_about glucose relationship: IAO:0000136 CHEBI:5931 ! is_about insulin (human) relationship: IAO:0000136 CL:0000168 ! is_about insulin secreting cell property_value: definition:citation https://en.wikipedia.org/wiki/Homeostatic_model_assessment xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004471 name: insulin sensitivity measurement def: "An insulin sensitivity measurement is a measurement of insulin metabolism, which can be measured in a number of ways, for example using the HOMA model or via a glucose tolerance test." [] synonym: "insulin sensitivity test" EXACT [] is_a: EFO:0004467 ! insulin measurement relationship: IAO:0000136 CHEBI:5931 ! is_about insulin (human) property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004472 name: obsolete_C57BL/6 def: "C57BL/6 is a mouse strain as described in Jackson Laboratory strain index" [] synonym: "B6" EXACT [] synonym: "C57" EXACT [] synonym: "C57 Black/6" EXACT [] synonym: "C57/B6" EXACT [] synonym: "C57/BL6" EXACT [] synonym: "C57B/6" EXACT [] synonym: "C57Bl," EXACT [] synonym: "C57BL6" EXACT [] synonym: "C57Bl\\6" EXACT [] synonym: "C57Black" EXACT [] synonym: "C57Black/6" EXACT [] synonym: "C57Black6" EXACT [] synonym: "CB57" EXACT [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.12.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "This is not actually a mouse strain, just a short-form for several separate substrains. See https://www.jax.org/news-and-insights/jax-blog/2016/june/there-is-no-such-thing-as-a-b6-mouse" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true [Term] id: EFO:0004500 name: radiation induced mutation is_a: EFO:0005315 ! induced mutation property_value: definition:citation "A mutation induced by irradiation usually gamma-ray or X-ray." xsd:string property_value: definition:citation http://www.findmice.org/glossary.jsp#radiation_induced xsd:string [Term] id: EFO:0004501 name: HOMA-IR def: "The HOMA-IR measurement employs the homeostatic model assessment (HOMA) to quantify insulin resistance." [] synonym: "homeostasis model assessment insulin resistance" EXACT [] is_a: EFO:0004467 ! insulin measurement is_a: EFO:0004468 ! glucose measurement relationship: IAO:0000136 CHEBI:17234 ! is_about glucose relationship: IAO:0000136 CHEBI:5931 ! is_about insulin (human) property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004502 name: adiponectin measurement def: "Adiponectin measurement is a measurement of the circulating hormone adiponectin in serum. Adiponectin regulated modulates glucose regulation and fatty acid catabolism. Low circulating adiponectin concentrations (hypoadiponectinemia; <4 μg/mL) are associated with a variety of diseases, including dysmetabolism (type 2 diabetes, insulin resistance, hypertension, dyslipidemia, metabolic syndrome, hyperuricemia), atherosclerosis (coronary artery disease, stroke, peripheral artery disease), sleep apnea, non-alcoholic fatty liver disease, gastritis and gastro-esophageal reflux disease, inflammatory bowel diseases, pancreatitis, osteoporosis, and cancer (endometrial cancer, postmenopausal breast cancer, leukemia, colon cancer, gastric cancer, prostate cancer). Hyperadiponectinemia is associated with cardiac, renal and pulmonary diseases." [] synonym: "adiponectin levels" EXACT [] xref: NCIt:C74839 is_a: EFO:0004730 ! hormone measurement is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 CHEBI:24621 ! is_about hormone relationship: IAO:0000136 CHEBI:36080 ! is_about protein property_value: definition:citation http://www.sciencedirect.com/science/article/pii/S1521690X13001188 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004503 name: hematological measurement def: "A measurement quantifying some blood cell, or component." [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004504 name: serum hepcidin measurement def: "A serum hepcidin measurement is a measurement of the peptide hormone hepcidin. Hepcidin is secreted by the liver and regulates iron metabolism." [] synonym: "hepcidin levels" EXACT [] synonym: "serum hepcidin" EXACT [] is_a: EFO:0004461 ! iron biomarker measurement is_a: EFO:0004730 ! hormone measurement relationship: IAO:0000136 CHEBI:24621 ! is_about hormone relationship: IAO:0000136 HP:0001891 ! is_about Iron deficiency anemia property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004505 name: telomere length def: "A measurement of telomere length measures the number of TTAGGG repeats at the end of the chromosome. As cell division proceeds telomeres shorten, telomere length is measure of cellular aging." [] is_a: EFO:0004554 ! genomic measurement relationship: IAO:0000136 EFO:0004359 ! is_about telomere relationship: IAO:0000136 EFO:0004420 ! is_about genome relationship: IAO:0000136 GO:0007568 ! is_about aging property_value: definition:citation http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3370421/ xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004506 name: monocyte early outgrowth colony forming unit def: "A monocyte early outgrowth colony forming unit measurement is the result of a cell culture assay in which monocytes are plated on fibronectin plates and morphology and growth assessed in an assay which correlates circulating cells and vascular function. The output of the assay is a measure of how many colonies were formed, at what point and their morphology." [] synonym: "early outgrowth endothelial progenitor cell colony forming units" EXACT [] synonym: "monocyte early outgrowth colony forming units" EXACT [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 CL:0000576 ! is_about monocyte property_value: definition:citation http://www.stemcell.com/~/media/Technical%20Resources/3/29012_CFUHill_3_0_1.ashx xsd:string property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004507 name: D dimer measurement def: "A D dimer measurement is a quantification of a fibrinogen degradation product in blood used in the diagnosis of thrombosis." [] synonym: "D-dimer levels" EXACT [] synonym: "fibrin D-dimer levels" EXACT [] synonym: "plasma D-dimer levels" EXACT [] is_a: EFO:0004747 ! protein measurement is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease property_value: definition:citation http://en.wikipedia.org/wiki/D-dimer xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004508 name: spine bone size def: "Spine bone size is a measurement of the dimensions of the spine." [] is_a: EFO:0004512 ! bone measurement relationship: IAO:0000136 UBERON:0001474 ! is_about bone element property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004509 name: hemoglobin measurement def: "hemoglobin levels" [] def: "Hemoglobin measurement is a measure of the quantity of the metallo protein hemoglobin in blood often used in the diagnosis of anaemia." [] synonym: "haemoglobin measurement" EXACT [] synonym: "Hb" EXACT [] synonym: "hemoglobin count" EXACT [] xref: NCIt:C64848 is_a: EFO:0004503 ! hematological measurement is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 EFO:0001941 ! is_about blood component property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004510 name: HPV seropositivity def: "HPV seropositivity is the result of a measurement of circulating human papilloma virus specific antibodies used in the diagnosis of HPV infection." [] is_a: EFO:0006843 ! infectious disease biomarker is_a: EFO:0007034 ! seropositivity measurement relationship: IAO:0000136 EFO:0001668 ! is_about human papilloma virus infection property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004511 name: femoral neck bone geometry def: "Femoral neck bone geometry is the quantification of the dimensions of the femoral neck bone of the femur. Femoral neck bone geometry is used in determining risk of hip fracture." [] is_a: EFO:0004513 ! bone geometry property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004512 name: bone measurement is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004513 name: bone geometry def: "Bone geometry is the measure of the dimensions of some bone. Bone geometry is used as a predictive indicator of fracture risk." [] is_a: EFO:0004302 ! anthropometric measurement is_a: EFO:0004516 ! bone fracture related measurement relationship: IAO:0000136 EFO:0003931 ! is_about bone fracture relationship: IAO:0000136 UBERON:0001474 ! is_about bone element property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/16822403 xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004514 name: bone quantitative ultrasound measurement def: "A bone quantitative ultrasound measurement is the output of a an ultrasound process in which bones are assayed using ultrasound and information about bone density, cortical thickness, elasticity and microarchitecture may be returned." [] synonym: "bone quantitative ultrasound" EXACT [] synonym: "broadband ultrasound attenuation" EXACT [] is_a: EFO:0004516 ! bone fracture related measurement relationship: IAO:0000136 EFO:0003931 ! is_about bone fracture relationship: IAO:0000136 UBERON:0001474 ! is_about bone element property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004515 name: muscle measurement def: "A muscle mass measurement is the quantification of the mass of a muscle e.g. skeletal muscle for an individual." [] synonym: "muscle mass" EXACT [] synonym: "muscle mass measurement" EXACT [] is_a: EFO:0004302 ! anthropometric measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 UBERON:0001015 ! is_about musculature relationship: IAO:0000136 UBERON:0001015 ! is_about musculature property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004516 name: bone fracture related measurement def: "A fracture related measurement is a measure of some bone or muscular entity which collectively are used to determine the risk of bone fracture e.g. bone density, muscle mass etc." [] synonym: "fracture-related traits" EXACT [] is_a: EFO:0004512 ! bone measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 EFO:0003931 ! is_about bone fracture property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004517 name: arterial stiffness measurement def: "An Arterial stiffness measurement is the information output of a non invasive pulse wave velocity assay. Arterial stiffness is a predictor of cardiovascular mortality" [] synonym: "arterial stiffness" EXACT [] is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease relationship: IAO:0000136 UBERON:0004535 ! is_about cardiovascular system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004518 name: creatinine measurement def: "A creatinine measurement is a measure of the metabolite creatinine in a sample. For example, in the serum, where it can be used in assessment of kidney function." [] synonym: "creatinine levels" EXACT [] synonym: "serum creatinine levels" EXACT [] synonym: "serum creatinine measurement" EXACT [] xref: NCIt:C61023 is_a: EFO:0004725 ! metabolite measurement is_a: EFO:0004742 ! renal system measurement relationship: IAO:0000136 CHEBI:16737 ! is_about creatinine relationship: IAO:0000136 EFO:0003086 ! is_about kidney disease relationship: IAO:0000136 UBERON:0002113 ! is_about kidney property_value: definition:citation http://labtestsonline.org.uk/understanding/analytes/creatinine/ xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004519 name: soluble P-selectin measurement def: "The measurement of the soluble component of the P-selectin adhesion molecule. Soluble P-selection is associated with adverse cardiovascular events. Alternative terms include:\nCD62 antigen-like family member P\nGranule membrane protein 140\nGMP-140\nLeukocyte-endothelial cell adhesion molecule 3\nLECAM3\nPlatelet activation dependent granule-external membrane protein\nPADGEM" [] synonym: "soluble P-selectin level" EXACT [] synonym: "sP-selectin" EXACT [] xref: NCIt:C120650 is_a: EFO:0004522 ! adhesion molecule measurement is_a: EFO:0004747 ! protein measurement is_a: EFO:0004872 ! inflammatory biomarker measurement is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease relationship: IAO:0000136 EFO:0004521 ! is_about adhesion factor relationship: IAO:0000136 GO:0006954 ! is_about inflammatory response property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004520 name: ICAM-1 measurement def: "A soluble ICAM-1 measurement is the quantification of the ICAM-1 protein. ICAM-1 levels are associated with adverse cardiovascular events." [] synonym: "sICAM-1" EXACT [] synonym: "soluble ICAM1 measurement" EXACT [] synonym: "soluble intercellular adhesion molecule-1" EXACT [] is_a: EFO:0004522 ! adhesion molecule measurement is_a: EFO:0004747 ! protein measurement is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease relationship: IAO:0000136 EFO:0004521 ! is_about adhesion factor property_value: definition:citation https://en.wikipedia.org/wiki/ICAM-1 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004521 name: adhesion factor def: "A biological macromolecule that has an adhesion disposition." [] synonym: "adhesion molecule" EXACT [] is_a: EFO:0004446 ! biological macromolecule property_value: definition:citation http://purl.obolibrary.org/obo/IDO_0000557 xsd:string [Term] id: EFO:0004522 name: adhesion molecule measurement def: "A soluble adhesion molecule measurement is a quantification of the soluble compoment (as opposed to membrane bound) a molecule known to participate in the process of adhesion, levels of which may be implicated in cardiovascular adverse events." [] synonym: "soluble adhesion molecule measurement" EXACT [] is_a: EFO:0001444 ! measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 EFO:0004521 ! is_about adhesion factor property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004523 name: obsolete_hemoglobin E disease def: "Hemoglobin E disease is an autosomal recessive genetic disorder caused by a single point mutation in the hemoglobin molecule." [] synonym: "Beta thalassemia/hemoglobin E disease" EXACT [] synonym: "HbE disease" EXACT [] xref: NCIt:C35287 property_value: definition:citation http://en.wikipedia.org/wiki/Hemoglobin_E xsd:string property_value: definition:citation http://www.orpha.net/ORDO/Orphanet_2133 xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_2133' instead.\nNew Label : Hemoglobin E disease" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_2133 [Term] id: EFO:0004525 name: obsolete_bitter taste sensitivity def: "Any measurable or observable characteristic related to the ability to perceive a particular flavor or suggestion of something bitter by the chemoreceptors of the gustatory system." [] synonym: "bitter taste sensitivity trait" EXACT [] property_value: definition:citation http://purl.bioontology.org/ontology/VT/VT_0004210 xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced by sensory perception of bitter taste imported from Go" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/GO_0050913 [Term] id: EFO:0004526 name: mean corpuscular volume def: "A mean corpuscular volume is the result of calculation of the mean volume of erythrocytes in a blood sample." [] synonym: "MCV" EXACT [] synonym: "mean cell volume" EXACT [] xref: MedDRA:10027008 is_a: EFO:0004306 ! erythrocyte indices relationship: IAO:0000136 CL:0000081 ! is_about blood cell relationship: IAO:0000136 CL:0000232 ! is_about erythrocyte property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004527 name: mean corpuscular hemoglobin def: "The MCH is the average mass of hemoglobin per red blood cell in a sample of blood and is calculated by dividing the total mass of hemoglobin by the RBC count" [] synonym: "MCH" EXACT [] synonym: "mean corpuscular haemoglobin" EXACT [] xref: MedDRA:10055624 is_a: EFO:0004306 ! erythrocyte indices relationship: IAO:0000136 CL:0000081 ! is_about blood cell property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004528 name: mean corpuscular hemoglobin concentration def: "The mean corpuscular hemoglobin concentration is a measure of the concentration of hemoglobin in a given volume of packed red blood cell" [] synonym: "CHCM" EXACT [] synonym: "Corpuscular Hemoglobin Concentration Mean" EXACT [] synonym: "Corpuscular HGB Concentration Mean" EXACT [] synonym: "Erythrocyte Corpuscular Hemoglobin Concentration Mean" EXACT [] synonym: "MCHC" EXACT [] synonym: "mean corpuscular haemoglobin concentration" EXACT [] xref: NCIt:C139067 is_a: EFO:0004306 ! erythrocyte indices is_a: EFO:0004509 ! hemoglobin measurement relationship: IAO:0000136 CL:0000081 ! is_about blood cell property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004529 name: lipid measurement def: "A measure of circulating lipid" [] xref: NCIt:C74949 is_a: EFO:0005105 ! lipid or lipoprotein measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 CHEBI:18059 ! is_about lipid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004530 name: triglyceride measurement def: "A triglyceride measurement is a quantification of triglycerides in some body fluid, used as a biomarker for cardiovascular disease." [] synonym: "triglyceride levels" EXACT [] xref: NCIt:C64812 is_a: EFO:0004529 ! lipid measurement relationship: IAO:0000136 CHEBI:17855 ! is_about triglyceride relationship: IAO:0000136 CHEBI:18059 ! is_about lipid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004531 name: urate measurement def: "A urate measurement is the quantification of some urate in body fluid" [] synonym: "urate levels" EXACT [] xref: NCIt:C64814 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004532 name: serum gamma-glutamyl transferase measurement def: "Serum gamma-glutamyl transferase level measurement is the quantification of gamma-glutamyl transferase in blood. Gamma-glutamyl transferase is used as a marker for liver/bile duct problems and alcohol abuse." [] synonym: "Gamma gluatamyl transferase levels" EXACT [] synonym: "gamma glutamyl transferase measurement" EXACT [] synonym: "Gamma glutamyl transpeptidase levels" EXACT [] synonym: "GGT measurement" EXACT [] xref: SNOMEDCT:313849004 is_a: EFO:0004582 ! liver enzyme measurement relationship: IAO:0000136 EFO:0003861 ! is_about pancreactic component relationship: IAO:0000136 OBI:0000427 ! is_about enzyme relationship: IAO:0000136 UBERON:0002107 ! is_about liver relationship: IAO:0000136 UBERON:0002423 ! is_about hepatobiliary system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004533 name: alkaline phosphatase measurement def: "Alkaline phosphatase measurement is a quantification of alkaline phosphatase in blood. AP is a marker for bone and liver disease." [] synonym: "AP" EXACT [] xref: NCIt:C64432 xref: SNOMEDCT:88810008 is_a: EFO:0004512 ! bone measurement is_a: EFO:0004582 ! liver enzyme measurement is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 OBI:0000427 ! is_about enzyme relationship: IAO:0000136 UBERON:0001474 ! is_about bone element relationship: IAO:0000136 UBERON:0002107 ! is_about liver property_value: definition:citation http://www.nlm.nih.gov/medlineplus/ency/article/003470.htm xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004534 name: creatine kinase measurement def: "A creatine kinase measurement is a quantification of creatine kinase in blood. Creatine kinase is a marker for tissue damage and is assayed in blood tests as a marker of myocardial infarction (heart attack), rhabdomyolysis (severe muscle breakdown), muscular dystrophy, the autoimmune myositides and in acute renal failure." [] xref: NCIt:C64489 xref: SNOMEDCT:397798009 is_a: EFO:0004298 ! cardiovascular measurement is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 EFO:0002970 ! is_about muscular disease relationship: IAO:0000136 OBI:0000427 ! is_about enzyme relationship: IAO:0000136 UBERON:0002113 ! is_about kidney relationship: IAO:0000136 UBERON:0004535 ! is_about cardiovascular system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004535 name: serum albumin measurement def: "An albumin measurement is a quantification of albumin in blood. Serum albumin, the main protein of plasma, has a good binding capacity for water, Ca2+, Na+, K+, fatty acids, hormones, bilirubin and drugs. Its main function is the regulation of the colloidal osmotic pressure of blood. Major zinc transporter in plasma, typically binds about 80% of all plasma zinc. Low levels of albumin in the blood may indicate liver disease." [] synonym: "blood albumin" EXACT [] xref: NCIt:C61015 is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 EFO:0001421 ! is_about liver disease relationship: IAO:0000136 PR:000003918 ! is_about serum albumin property_value: definition:citation http://en.wikipedia.org/wiki/Serum_albumin xsd:string property_value: definition:citation http://labtestsonline.org.uk/understanding/analytes/albumin/tab/test/ xsd:string property_value: definition:citation http://www.uniprot.org/uniprot/P02768 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004536 name: total blood protein measurement def: "A total blood protein measurement is a quantification of protein in a blood sample. It is used as a marker for disease and nutrition. It is performed in the liquid portion of blood and typically measures albumin and globulin." [] synonym: "serum total protein" EXACT [] synonym: "TBP" EXACT [] is_a: EFO:0004503 ! hematological measurement relationship: IAO:0000136 EFO:0001941 ! is_about blood component property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004537 name: neonatal systemic lupus erythematosus def: "A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis." [NCIT:C99236] subset: ordo_disease {source="Orphanet:398124"} synonym: "congenital lupus" RELATED [GARD:0009563] synonym: "congenital lupus erythematosus" RELATED [GARD:0009563] synonym: "neonatal lupus" EXACT [] synonym: "neonatal lupus" RELATED [GARD:0009563] synonym: "Neonatal Lupus Erythematosus" EXACT [] synonym: "neonatal lupus erythematosus" EXACT [] {comment="preferred label from MONDO"} synonym: "neonatal lupus syndrome" EXACT [] synonym: "neonatal lupus syndrome" RELATED [GARD:0009563] synonym: "neonatal SLE" RELATED [GARD:0009563] synonym: "neonatal systemic lupus erythematosus" RELATED [GARD:0009563] xref: MESH:C536397 {source="MONDO:equivalentTo"} xref: MONDO:0018360 xref: NCIT:C99236 {source="MONDO:equivalentTo", source="EFO:0004537"} xref: NCIt:C99236 xref: Orphanet:398124 {source="MONDO:equivalentTo"} xref: SCTID:95609003 {source="MONDO:equivalentTo", source="EFO:0004537"} xref: SNOMEDCT:95609003 xref: UMLS:C0409979 {source="Orphanet:398124", source="MONDO:equivalentTo", source="NCIT:C99236"} is_a: MONDO:0007915 {source="EFO:0004537", source="NCIT:C99236"} ! systemic lupus erythematosus is_a: MONDO:0018356 {source="Orphanet:398124"} ! secondary neonatal autoimmune disease property_value: definition:citation "C536397" xsd:string property_value: exactMatch http://identifiers.org/mesh/C536397 property_value: exactMatch http://identifiers.org/snomedct/95609003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0409979 property_value: exactMatch NCIT:C99236 property_value: exactMatch Orphanet:398124 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004538 name: obsolete_bronchopulmonary dysplasia property_value: definition:citation "D001997" xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_70589' instead.\nNew Label : Bronchopulmonary dysplasia" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_70589 [Term] id: EFO:0004540 name: chronic fatigue syndrome def: "A medical condition characterized by long-term fatigue and other symptoms that limit a person's ability to carry out ordinary daily activities." [http://en.wikipedia.org/wiki/Chronic_fatigue_syndrome] def: "A syndrome characterized by persistent or recurrent fatigue, diffuse musculoskeletal pain, sleep disturbances, and subjective cognitive impairment of 6 months duration or longer. Symptoms are not caused by ongoing exertion; are not relieved by rest; and result in a substantial reduction of previous levels of occupational, educational, social, or personal activities. Minor alterations of immune, neuroendocrine, and autonomic function may be associated with this syndrome. There is also considerable overlap between this condition and FIBROMYALGIA. (From Semin Neurol 1998;18(2):237-42; Ann Intern Med 1994 Dec 15;121(12): 953-9)" [] synonym: "CFS" EXACT ABBREVIATION [Wikipedia:Chronic_fatigue_syndrome#Naming] synonym: "chronic fatigue immune dysfunction syndrome" EXACT [Orphanet:1983] synonym: "chronic fatigue syndrome" EXACT [DOID:8544] synonym: "myalgic encephalitis" EXACT [DOID:8544, Wikipedia:Chronic_fatigue_syndrome#Naming] synonym: "myalgic encephalomeyelitis/chronic fatigue syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Myalgic Encephalomyelitis" EXACT [] synonym: "myalgic encephalomyelitis" EXACT [DOID:8544, Orphanet:1983, Wikipedia:Chronic_fatigue_syndrome#Naming] synonym: "Postviral fatigue syndrome" EXACT [DOID:8544] synonym: "systemic exertion intolerance disease" EXACT [Wikipedia:Chronic_fatigue_syndrome#Naming] xref: DOID:8544 {source="EFO:0004540", source="MONDO:equivalentTo"} xref: ICD9:780.71 {source="DOID:8544", source="EFO:0004540"} xref: ICD9:780.79 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10008874 xref: MESH:D015673 {source="DOID:8544", source="MONDO:equivalentTo"} xref: MeSH:D015673 xref: MONDO:0005404 xref: NCIT:C3037 {source="DOID:8544", source="EFO:0004540", source="MONDO:equivalentTo"} xref: NCIt:C3037 xref: Orphanet:1983 {source="MONDO:equivalentObsolete"} xref: SCTID:51771007 {source="DOID:8544", source="MONDO:equivalentTo"} xref: SNOMEDCT:52702003 xref: UMLS:C0015674 {source="DOID:8544", source="MONDO:equivalentTo", source="NCIT:C3037"} xref: Wikipedia:Chronic_fatigue_syndrome is_a: EFO:0000618 {source="ISBN-13:978-1-259-64403-0"} ! nervous system disease is_a: EFO:0002970 ! muscular disease is_a: EFO:0009714 ! chronic disease is_a: MONDO:0002254 {source="DOID:8544", source="MONDO:Redundant", source="NCIT:C3037/inferred"} ! syndromic disease is_a: MONDO:0003939 {source="EFO:0004540", source="MESH:D015673", source="MONDO:Redundant"} ! muscle tissue disorder is_a: MONDO:0021094 {source="NCIT:C3037"} ! immunodeficiency disease relationship: EFO:0000784 UBERON:0014892 ! has_disease_location skeletal muscle organ relationship: has_modifier HP:0011010 ! Chronic property_value: definition:citation "D015673" xsd:string property_value: exactMatch DOID:8544 property_value: exactMatch http://identifiers.org/mesh/D015673 property_value: exactMatch http://identifiers.org/snomedct/51771007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015674 property_value: exactMatch NCIT:C3037 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Gautier Koscielny" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004541 name: HbA1c measurement def: "A quantification of glycated A1c hemoglobin in blood used as an index for blood glucose level over several months." [] synonym: "A1C measurement" EXACT [] synonym: "A1c measurement" EXACT [] synonym: "glycated hemoglobin levels" EXACT [] synonym: "glycosylated Haemoglobin A level" EXACT [] synonym: "Glycosylated Hemoglobin" EXACT [] synonym: "glycosylated Hemoglobin A level" EXACT [] synonym: "Glycosylated Hemoglobin Measurement" EXACT [] synonym: "HBA1C" EXACT [] synonym: "HbA1c levels" EXACT [] synonym: "Hemoglobin A1C" EXACT [] xref: NCIt:C64849 is_a: EFO:0004468 ! glucose measurement is_a: EFO:0004509 ! hemoglobin measurement is_a: EFO:0004555 ! glycoprotein measurement relationship: IAO:0000136 CHEBI:17089 ! is_about glycoprotein relationship: IAO:0000136 CHEBI:17234 ! is_about glucose property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000116 "Glycated hemoglobin is preferred over glycosylated hemoglobin to reflect the correct (non-enyzmatic) process. Early literature often used glycosylated as it was unclear which process was involved until further research was performed. The terms are still sometimes used interchangeably in English language literature. (See https://en.wikipedia.org/wiki/Glycated_hemoglobin)" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0004542 name: planned process def: "A processual entity that realizes a plan which is the concretization of a plan specification." [] is_a: BFO:0000015 ! process property_value: definition:citation "OBI_0000011" xsd:string property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004550 name: amygdala reactivity measurement def: "Is the quantification of amygdala response to stimulus using MRI. The amygdala is implicated in many mental and behavioual disorders." [] is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder relationship: IAO:0000136 UBERON:0001876 ! is_about amygdala property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/22856363 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004554 name: genomic measurement def: "Is a quantification of some aspect of the genome, e.g. copy number variation at some locus." [] is_a: EFO:0001444 ! measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 EFO:0004420 ! is_about genome property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004555 name: glycoprotein measurement def: "Is the quantification of some glycoprotein." [] is_a: EFO:0004747 ! protein measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 CHEBI:17089 ! is_about glycoprotein property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004556 name: antibody measurement def: "Is the quantification of some antibody" [] xref: SNOMEDCT:3527003 is_a: EFO:0001444 ! measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 EFO:0000264 ! is_about antibody property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004557 name: population measurement def: "Is the quantification of some measureable quality of a population e.g. birth rate." [] is_a: EFO:0001444 ! measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 OBI:0000181 ! is_about population property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004561 name: obsolete_African def: "Denotes a person with African ancestral origins who self identifies, or is identified, as African. The concept does not refer to those of other ancestry, for example, European and South Asian. In practice, the term mainly refers to people originated from forty-eight sub-Saharan Africa nations; and excudes individuals from North Africa countries, e.g. such as Algeria, Morocco, Egypt, Tunisia with Arab and Berber ethnicity." [] xref: NCIt:C42331 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0010 [Term] id: EFO:0004562 name: cryptorchidism def: "Cryptorchidism (derived from the Greek κρυπτός, kryptos, meaning hidden and ὄρχις, orchis, meaning testicle) is the absence of one or both testes from the scrotum. It is the most common birth defect regarding male genitalia. In unique cases, cryptorchidism can develop later in life, often as late as young adulthood. About 3% of full-term and 30% of premature infant boys are born with at least one undescended testis. However, about 80% of cryptorchid testes descend by the first year of life (the majority within three months), making the true incidence of cryptorchidism around 1% overall. Cryptorchidism is distinct from monorchism the condition of having only one testicle." [] def: "The failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life." [NCIT:P378] synonym: "cryptorchidism" EXACT [MONDO:ambiguous] synonym: "cryptorchidism" EXACT [] {comment="preferred label from MONDO"} synonym: "cryptorchidism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "cryptorchidism, unilateral or bilateral" RELATED [OMIM:219050] synonym: "cryptorchism" EXACT [DOID:11383] synonym: "undescended testes" EXACT [NCIT:C12326] synonym: "undescended testicle" EXACT [DOID:11383] synonym: "undescended testicles" EXACT [DOID:11383, NCIT:C12326] synonym: "undescended testis" EXACT [DOID:11383, ICD9CM:752.51, OMIM:219050] xref: DOID:11383 {source="EFO:0004562", source="MONDO:equivalentTo"} xref: HP:0000028 {source="MONDO:otherHierarchy"} xref: ICD9:752.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:752.51 {source="EFO:0004562", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11383"} xref: MedDRA:10056600 xref: MESH:D003456 {source="EFO:0004562", source="MONDO:equivalentTo", source="DOID:11383"} xref: MeSH:D003456 xref: MONDO:0009047 xref: NCIT:C12326 {source="EFO:0004562", source="MONDO:equivalentTo", source="DOID:11383"} xref: NCIt:C12326 xref: OMIM:219050 {source="EFO:0004562", source="MONDO:equivalentTo", source="DOID:11383"} xref: SCTID:204878001 {source="MONDO:equivalentTo", source="DOID:11383"} xref: SNOMEDCT:127907005 is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: EFO:0009555 {source="MESH:D003456/inferred", source="MONDO:Redundant", source="NCIT:C12326/inferred"} ! male reproductive system disease relationship: EFO:0000784 UBERON:0000079 ! has_disease_location male reproductive system property_value: definition:citation http://en.wikipedia.org/wiki/Cryptorchidism xsd:string property_value: exactMatch DOID:11383 property_value: exactMatch http://identifiers.org/mesh/D003456 property_value: exactMatch http://identifiers.org/snomedct/204878001 property_value: exactMatch https://omim.org/entry/219050 property_value: exactMatch NCIT:C12326 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: IAO:0000589 "cryptorchidism (disease)" xsd:string [Term] id: EFO:0004563 name: Sigma 1278b def: "A Saccharomyces cerevisiae commercially available strain used in pseudohyphal growth studies.\nGranek and Magwene, PLoS Genet. 2010 Jan 22;6(1):e1000823, established that certain lineages of the Sigma1278B background contain a nonsense mutation in RIM15, a G-to-T transversion at position 1216 that converts a Gly codon to an opal stop codon. This rim15 mutation interacts epistatically with mutations in certain other genes to affect colony morphology." [] synonym: "sigma 1278b" EXACT [] synonym: "Sigma1278b" EXACT [] synonym: "sigma1278b" EXACT [] synonym: "Σ1278b" EXACT [] is_a: NCBITaxon:4932 ! Saccharomyces cerevisiae property_value: definition:citation http://wiki.yeastgenome.org/index.php/Commonly_used_strains xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004564 name: obsolete_pericardial fat property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0035814 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0035814 [Term] id: EFO:0004565 name: serum IgG measurement def: "A serum immunoglobulin G measurement is the measurement of the IgG antibody isotype produced by plasma cells in response to an immunogen and which function as antibodies, measured in serum" [] synonym: "IgG level" EXACT [] synonym: "immunoglobulin G level" EXACT [] is_a: EFO:0004556 ! antibody measurement relationship: IAO:0000136 EFO:0000264 ! is_about antibody property_value: definition:citation http://labtestsonline.org.uk/understanding/analytes/immunoglobulins/tab/test/ xsd:string property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004566 name: body weight gain def: "The process of increasing the mass of an organism over time." [] is_a: HP:0004323 ! Abnormality of body weight property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004567 name: antipsychotic drug related weight gain def: "The process of increasing body mass during treatment with an antipsychotic drug. http://ajp.psychiatryonline.org/article.aspx?articleid=173781" [] is_a: EFO:0004566 ! body weight gain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004568 name: serum non-albumin protein measurement def: "The measurement of the non-albumin portion of blood protein (globulin) in serum" [] is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004569 name: brain serotonin transporter measurement def: "A serotonin transported measurement is the quantification of serotonin transporter. Serotonin transporter regulates the levels of extracellular serotonin. The 5-HTT levels in brain can be measured using PET." [] synonym: "5-HTT brain serotonin transporter levels" EXACT [] is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 CHEBI:28790 ! is_about serotonin relationship: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder relationship: IAO:0000136 UBERON:0001017 ! is_about central nervous system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004570 name: bilirubin measurement def: "A bilirubin measurement is a quantification of bilirubin typically measured in serum." [] synonym: "bilirubin levels" EXACT [] xref: SNOMEDCT:302787001 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 CHEBI:16990 ! is_about bilirubin IXalpha relationship: IAO:0000136 EFO:0001421 ! is_about liver disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004571 name: butyrylcholinesterase measurement def: "A butyrylcholinesterase measurement is a quanitification of butyrylcholinesterase a non-specific cholinesterase enzyme that hydrolyses many different choline esters. It is found in liver in humans." [] synonym: "butyrylcholinesterase levels" EXACT [] xref: NCIt:C111142 is_a: EFO:0004582 ! liver enzyme measurement is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 OBI:0000427 ! is_about enzyme relationship: IAO:0000136 UBERON:0002107 ! is_about liver property_value: definition:citation http://en.wikipedia.org/wiki/Butyrylcholinesterase xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004572 name: C4BP measurement def: "A C4BP measurement is the quantification of C4BP, it controls the classical pathway of complement activation. It binds as a cofactor to C3b/C4b inactivator (C3bINA), which then hydrolyzes the complement fragment C4b. It also accelerates the degradation of the C4bC2a complex (C3 convertase) by dissociating the complement fragment C2a. Alpha chain binds C4b. It interacts also with anticoagulant protein S and with serum amyloid P component. (Uniprot defintion).\nBuil et al, 2010 propose that C4BP may be a susceptibility locus for venous thrombosis based on GWAS and gene expression studies. " [] synonym: "C4b binding protein levels" EXACT [] synonym: "C4b-binding protein levels" EXACT [] synonym: "C4b-binding protein measurement" EXACT [] is_a: EFO:0004555 ! glycoprotein measurement is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 CHEBI:17089 ! is_about glycoprotein relationship: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease property_value: definition:citation http://en.wikipedia.org/wiki/C4b-binding_protein xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004573 name: chemerin measurement def: "A chemerin measurement is a quantification of chemerin typically in serum. Chemerin is an adipokine with important regulatory roles in adipogenesis. In humans, serum total chemerin (i.e. prochemerin plus chemerin) levels are positively associated with body mass index and metabolic syndrome (http://www.ncbi.nlm.nih.gov/pubmed/20363880)" [] synonym: "chemerin levels" EXACT [] synonym: "RAR-responsive protein TIG2 measurement" EXACT [] synonym: "Retinoic acid receptor responder protein 2 measurement" EXACT [] synonym: "Tazarotene-induced gene 2 protein measurement" EXACT [] is_a: EFO:0004730 ! hormone measurement is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 CHEBI:24621 ! is_about hormone relationship: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004574 name: total cholesterol measurement def: "A total cholesterol measurement is the quantification of cholesterol in blood, total cholesterol is defined as the sum of HDL, LDL, and VLDL." [] synonym: "cholesterol, total" EXACT [] synonym: "total cholesterol levels" EXACT [] xref: SNOMEDCT:121868005 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0004732 ! lipoprotein measurement relationship: IAO:0000136 CHEBI:16113 ! is_about cholesterol property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004575 name: e-selectin measurement def: "An e-selectin measurement is the quantification of e-selectin typically measured in serum. E-selectin is a cell adhesion molecule expressed only on endothelial cells activated by cytokines. Like other selectins, it plays an important part in inflammation. In humans. It is also used as a cancer biomarker." [] synonym: "CD62 antigen-like family member E measurement" EXACT [] synonym: "E-selectin levels" EXACT [] synonym: "endothelial-leukocyte adhesion molecule 1measurement" EXACT [] synonym: "eukocyte-endothelial cell adhesion molecule 2 measurement" EXACT [] synonym: "soluble e-selectin levels" EXACT [] is_a: EFO:0004522 ! adhesion molecule measurement is_a: EFO:0004747 ! protein measurement is_a: EFO:0004872 ! inflammatory biomarker measurement is_a: EFO:0005127 ! cancer biomarker measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 EFO:0004521 ! is_about adhesion factor relationship: IAO:0000136 GO:0006954 ! is_about inflammatory response property_value: definition:citation "doi:10.1093/jjco/hyq095. PMID 20576794." xsd:string property_value: definition:citation http://en.wikipedia.org/wiki/E-selectin xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004576 name: fetal hemoglobin measurement def: "A fetal hemoglobin measurement is the quantification of fetal hemoglobin typically measured in the blood of children for diagnosis of congenital disease." [] synonym: "fetal haemoglobin measurement" EXACT [] synonym: "Fetal Hemoglobin" EXACT [] synonym: "fetal hemoglobin levels" EXACT [] synonym: "HbF levels" EXACT [] synonym: "Hemoglobin F" EXACT [] synonym: "HGBF" EXACT [] xref: NCIt:C92262 xref: UMLS:C0200695 is_a: EFO:0004509 ! hemoglobin measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 EFO:0001941 ! is_about blood component property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004577 name: infant head circumference def: "The infant head circumference is the measurement of the diameter of the head and is a routine measure made during human development as a broad indicator of child development. It can be used as a proxy for brain development" [] is_a: EFO:0005114 ! head circumference property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004578 name: homocysteine measurement def: "A homocysteine measurement is the quantification of homocsyteine in blood or urine and is used in the diagnosis of B12 and/or folate deficiency, and as part of a cardiac risk assessment." [] synonym: "homocysteine levels" EXACT [] xref: SNOMEDCT:104733005 is_a: EFO:0004298 ! cardiovascular measurement is_a: EFO:0005134 ! amino acid measurement relationship: IAO:0000136 CHEBI:17230 ! is_about homocysteine relationship: IAO:0000136 UBERON:0004535 ! is_about cardiovascular system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004579 name: serum IgE measurement def: "A serum immunoglobulin E measurement is the measurement of the IgE antibody isotype produced by plasma cells in response to an immunogen and which function as antibodies, measured in serum. IgE's main function is immunity to parasites such as parasitic worms and it plays an essential role in the allergy disorder, and is especially associated with type I hypersensitivity." [] synonym: "IgE levels" EXACT [] is_a: EFO:0004556 ! antibody measurement relationship: IAO:0000136 EFO:0000264 ! is_about antibody relationship: IAO:0000136 MONDO:0005271 ! is_about allergic disease property_value: definition:citation http://en.wikipedia.org/wiki/IgE xsd:string property_value: definition:citation http://labtestsonline.org.uk/understanding/analytes/immunoglobulins/tab/test/ xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004580 name: interleukin 18 (Homo sapiens) def: "Interleukin-18 (IL18, also known as interferon-gamma inducing factor) is a protein which in humans is encoded by the IL18 gene.[1][2] The protein encoded by this gene is a proinflammatory cytokine." [] synonym: "IL-18" EXACT [] is_a: EFO:0004100 ! interleukin property_value: definition:citation http://en.wikipedia.org/wiki/Interleukin_18 xsd:string property_value: definition:citation http://www.uniprot.org/uniprot/Q14116 xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004581 name: interleukin 18 measurement def: "An IL-18 measurement is the quantification of IL-18, typically in blood." [] synonym: "IL-18 levels" EXACT [] synonym: "IL-18 measurement" EXACT [] synonym: "Interleukin-18 levels" EXACT [] xref: NCIt:C74814 is_a: EFO:0004872 ! inflammatory biomarker measurement is_a: EFO:0004873 ! cytokine measurement relationship: IAO:0000136 EFO:0004580 ! is_about interleukin 18 (Homo sapiens) relationship: IAO:0000136 GO:0006954 ! is_about inflammatory response property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004582 name: liver enzyme measurement def: "A quantification of liver enzymes, typically in blood, used by clinicians to determine liver injury, disease and function." [] synonym: "liver enzyme levels" EXACT [] is_a: EFO:0001444 ! measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 OBI:0000427 ! is_about enzyme intersection_of: IAO:0000136 UBERON:0002107 ! is_about liver property_value: definition:citation http://en.wikipedia.org/wiki/Liver_enzyme xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004583 name: obsolete_alanine transaminase measurement def: "An alanine transaminase measurement is the quantification of this liver enzyme typically measured in blood." [] synonym: "alanine aminotransferase measurement" EXACT [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.34" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate with http://www.ebi.ac.uk/efo/EFO_0004735 serum alanine aminotransferase measurement" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0004735 [Term] id: EFO:0004584 name: mean platelet volume def: "A measurement of mean platelet volume is a machine-calculated measurement of the average size of platelets found in blood" [] xref: MedDRA:10050539 xref: MeSH:D063847 is_a: EFO:0005036 ! platelet measurement is_a: EFO:0006846 ! autoimmune disease biomarker relationship: IAO:0000136 CL:0000233 ! is_about platelet relationship: IAO:0000136 EFO:0001941 ! is_about blood component property_value: definition:citation http://en.wikipedia.org/wiki/Mean_platelet_volume xsd:string property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/11280550 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004585 name: naphthyl-keratin adduct measurement def: "A quantification of the naphthyl-keratin adduct levels. naphthyl-keratin adduct is used as a marker for exposure to the xenobiotic napthalene." [] synonym: "naphthyl-keratin adduct levels" EXACT [] is_a: EFO:0001444 ! measurement property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/22391508 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004586 name: complete blood cell count def: "A complete blood cell count quantifies specific blood components. " [] synonym: "blood cell count" EXACT [] synonym: "CBC" EXACT [] synonym: "Complete Blood Count" EXACT [] synonym: "FBC" EXACT [] synonym: "Full Blood Count" EXACT [] synonym: "full blood count" EXACT [] xref: NCIt:C28133 xref: UMLS:C0005771 is_a: EFO:0004503 ! hematological measurement relationship: IAO:0000136 EFO:0001941 ! is_about blood component property_value: definition:citation http://en.wikipedia.org/wiki/Complete_blood_cell_count xsd:string property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004587 name: lymphocyte count def: "A quantification of lymphocytes in blood." [] synonym: "lymphocyte counts" EXACT [] xref: MedDRA:10025251 xref: MeSH:D018655 xref: NCIt:C51949 xref: SNOMEDCT:74765001 is_a: EFO:0004308 ! leukocyte count is_a: EFO:0006843 ! infectious disease biomarker is_a: EFO:0803546 ! lymphocyte measurement relationship: IAO:0000136 CL:0000081 ! is_about blood cell relationship: IAO:0000136 CL:0000542 ! is_about lymphocyte relationship: IAO:0000136 EFO:0001378 ! is_about multiple myeloma relationship: IAO:0000136 EFO:0005741 ! is_about infectious disease property_value: definition:citation http://www.nlm.nih.gov/medlineplus/ency/article/003657.htm xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: owl:incompatibleWith "true" xsd:string [Term] id: EFO:0004588 name: obsolete_gamma glutamyl transpeptidase measurement def: "the quantification of gamma glutamyl transpeptidase, typically in blood, used as a diagnotic test of liver function and disease." [] synonym: "gamma glutamyl transferase measurement" EXACT [] synonym: "Gamma glutamyl transpeptidase levels" EXACT [] synonym: "GGT measurement" EXACT [] property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0004589 name: brachial circumference def: "bachial circumference (BC) is a measurement of the diameter of the upper arm and can be used as an indicator of muscle mass and fat tissue." [] synonym: "mid arm circumference" EXACT [] synonym: "upper arm circumference" EXACT [] is_a: EFO:0004324 ! body weights and measures is_a: EFO:0004515 ! muscle measurement property_value: definition:citation "Helen Parkinson" xsd:string property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004590 name: obsolete_aspirin induced asthma def: "Aspirin induced asthma is caused by an anomaly in the arachidonic acid cascade, which causes increased production of cysteinyl leukotrienes, a series of chemicals involved in the body's inflammatory response. When medications like NSAIDs or aspirin block the COX-1 enzyme, prostaglandin and thromboxane production is decreased, which causes the overproduction of leukotrienes and produces the severe asthma and allergy-like effects. Although the underlying cause is not fully understood, the attachment of platelets to certain leukocytes in the blood may contribute to the overproduction of leukotrienes" [] property_value: definition:citation http://en.wikipedia.org/wiki/Aspirin-induced_asthma xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced by an import from HPO - http://purl.obolibrary.org/obo/HP_0012042" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HP_0012042 [Term] id: EFO:0004591 name: obsolete_childhood onset asthma def: "Asthma that starts in childhood." [] synonym: "childhood-onset asthma" EXACT [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.38.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replaced with Mondo term\nsee https://github.com/ebispot/efo/issues/1381" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/MONDO_0005405 [Term] id: EFO:0004592 name: obsolete_thyroid stimulating hormone measurement def: "Is a quantification of thyroid-stimulating hormone (also known as TSH or thyrotropin). a hormone that stimulates the thyroid gland to produce thyroxine (T4), and then triiodothyronine (T3) which stimulates the metabolism of almost every tissue in the body.[1] It is a glycoprotein hormone synthesized and secreted by thyrotrope cells in the anterior pituitary gland, which regulates the endocrine function of the thyroid gland. A TSH test is used in the diagnosis and monitoring of thyroid conditions." [] property_value: definition:citation http://en.wikipedia.org/wiki/Thyroid_stimulating_hormone xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0004593 name: gestational diabetes def: "Carbohydrate intolerance first diagnosed during pregnancy." [NCIT:P378] def: "Gestational diabetes is a condition in which women without previously diagnosed diabetes exhibit high blood glucose levels during pregnancy (especially during third trimester). Gestational diabetes is caused when the body of a pregnant woman does not secrete enough insulin required during pregnancy, leading to increased blood sugar levels." [] synonym: "diabetes in pregnancy" EXACT [NCIT:C34942] synonym: "GDM" EXACT ABBREVIATION [DOID:11714] synonym: "gestational diabetes" EXACT [] {comment="preferred label from MONDO"} synonym: "gestational diabetes mellitus" EXACT [DOID:11714] synonym: "maternal gestational diabetes mellitus" EXACT [DOID:11714] xref: DOID:11714 {source="MONDO:equivalentTo", source="EFO:0004593"} xref: ICD10:O24 xref: MedDRA:10018209 xref: MESH:D016640 {source="DOID:11714", source="MONDO:equivalentTo"} xref: MONDO:0005406 xref: NCIT:C34942 {source="DOID:11714", source="MONDO:equivalentTo", source="EFO:0004593"} xref: NCIt:C34942 xref: SCTID:11687002 {source="DOID:11714", source="MONDO:equivalentTo", source="EFO:0004593"} xref: SNOMEDCT:11687002 xref: UMLS:C0085207 {source="DOID:11714", source="MONDO:equivalentTo", source="NCIT:C34942"} is_a: EFO:0000400 {source="DOID:11714", source="EFO:0004593", source="MESH:D016640", source="MONDO:Redundant", source="NCIT:C34942"} ! diabetes mellitus is_a: EFO:0009682 {source="MESH:D016640", source="MONDO:Redundant", source="MONDO:cjm"} ! pregnancy disorder intersection_of: EFO:0000400 ! diabetes mellitus intersection_of: EFO:0009682 ! pregnancy disorder property_value: definition:citation http://en.wikipedia.org/wiki/Gestational_diabetes xsd:string property_value: exactMatch DOID:11714 property_value: exactMatch http://identifiers.org/mesh/D016640 property_value: exactMatch http://identifiers.org/snomedct/11687002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085207 property_value: exactMatch NCIT:C34942 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004594 name: childhood eosinophilic esophagitis def: "An eosinophilic esophagitis that starts in childhood." [EFO:0004594] synonym: "childhood eosinophilic esophagitis" EXACT [] {comment="preferred label from MONDO"} synonym: "eosinophilic esophagitis of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "paediatric eosinophilic esophagitis" EXACT OMO:0003005 [] synonym: "pediatric eosinophilic esophagitis" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] xref: MONDO:0005407 is_a: EFO:0004232 {source="EFO:0004594", source="MONDO:Redundant"} ! eosinophilic esophagitis property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0004595 name: HIV mother to child transmission def: "The process of transmission of HIV infection from mother to child during pregnancy, birth or breastfeeding." [] synonym: "HIV MTCT" EXACT [] is_a: GO:0008150 ! biological_process property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004596 name: diabetes mellitus type 2 associated cataract def: "Diabetic cataracts are thought to be caused by hyperglycemia associated with disturbed glucose metabolism" [EFO:0004596] synonym: "diabetes mellitus type 2 associated cataract" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0005408 is_a: EFO:0009486 ! diabetic eye disease is_a: MONDO:0005129 {source="EFO:0004596", source="MONDO:Redundant"} ! cataract intersection_of: MONDO:0005129 ! cataract intersection_of: disease_arises_from_feature MONDO:0005148 ! type 2 diabetes mellitus relationship: disease_arises_from_feature MONDO:0005148 ! type 2 diabetes mellitus relationship: EFO:0000784 UBERON:0000970 ! has_disease_location eye property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/8996641 xsd:string property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004597 name: obsolete_variant Creutzfeld Jacob disease property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.12.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate of EFO:0004597 variant Creutzfeld Jacob disease http://www.ebi.ac.uk/efo/EFO_0004597." xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_1001233 [Term] id: EFO:0004599 name: acute graft vs. host disease def: "Graft-versus-host disease (GVHD) is a common complication following an allogeneic tissue transplant. It is commonly associated with stem cell or bone marrow transplant but the term also applies to other forms of tissue graft." [] is_a: EFO:0000540 ! immune system disease property_value: definition:citation http://en.wikipedia.org/wiki/Graft-versus-host_disease xsd:string property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004600 name: genomic data def: "Genomic data is data about the genomes of an organism." [] synonym: "genomic profiling" BROAD [] synonym: "genomic profiling data" EXACT [] is_a: IAO:0000100 ! data set property_value: IAO:0000117 "James Malone" xsd:string property_value: seeAlso https://github.com/EBISPOT/efo/issues/1552 xsd:string [Term] id: EFO:0004601 name: transcriptomic data def: "Transcriptomic data is data about RNA transcribed by a cell, cells or organism. This includes mRNA, tRNA and cDNA." [] is_a: IAO:0000100 ! data set property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004602 name: metagenomic data def: "Metagenomic data is data about the genomes of a sample or samples containing mixed material such as from genetic material recovered directly from environmental samples." [] is_a: IAO:0000100 ! data set property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004603 name: metatranscriptomic data def: "Metatranscriptomic data is data about transcriptomic data from groups of organisms." [] is_a: IAO:0000100 ! data set property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004604 name: synthetic DNA data def: "Synthetic DNA data is data about DNA that has been artificially created without initial template DNA such as from naturally occuring genomic sequences in an organism." [] is_a: EFO:0022043 ! synthetic data property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004605 name: viral RNA data def: "Viral RNA data is data about a virus which stores its genetic information in RNA." [] is_a: IAO:0000100 ! data set property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004606 name: gallbladder neoplasm def: "A neoplasm (disease) that involves the gall bladder." [MONDO:patterns/location] synonym: "gall bladder neoplasm" EXACT [] synonym: "gall bladder neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "gall bladder tumor" EXACT [MONDO:patterns/neoplasm] synonym: "gall bladder tumour" EXACT OMO:0003005 [] synonym: "gallbladder neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "gallbladder neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "gallbladder tumor" EXACT [NCIT:C3048] synonym: "gallbladder tumour" EXACT OMO:0003005 [] synonym: "neoplasm of gall bladder" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of gallbladder" EXACT [NCIT:C3048] synonym: "neoplasm of the gallbladder" EXACT [NCIT:C3048] synonym: "tumor of gall bladder" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of gallbladder" EXACT [NCIT:C3048] synonym: "tumor of the gallbladder" EXACT [NCIT:C3048] synonym: "tumour of gall bladder" EXACT OMO:0003005 [] synonym: "tumour of gallbladder" EXACT OMO:0003005 [] synonym: "tumour of the gallbladder" EXACT OMO:0003005 [] xref: MESH:D005706 {source="MONDO:equivalentTo"} xref: MeSH:D005706 xref: MONDO:0021253 xref: NCIT:C3048 {source="MONDO:equivalentTo"} xref: UMLS:C0016978 {source="MONDO:equivalentTo", source="NCIT:C3048"} is_a: EFO:0003832 {source="MONDO:Redundant", source="NCIT:C3048"} ! gallbladder disease is_a: EFO:0008550 {source="MONDO:Redundant", source="NCIT:C3048"} ! Hepatobiliary Neoplasm property_value: exactMatch http://identifiers.org/mesh/D005706 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016978 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016978 property_value: exactMatch NCIT:C3048 property_value: exactMatch NCIT:C3048 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/neoplasm.yaml [Term] id: EFO:0004607 name: duodenal ulcer def: "A peptic ulcer arising in the small intestine." [] def: "An ulcer in the duodenal wall." [NCIT:P378] synonym: "curling Ulcer" EXACT [DOID:1724] synonym: "curling's ulcers" EXACT [DOID:1724] synonym: "duodenal ulcer" EXACT [] {comment="preferred label from MONDO"} synonym: "duodenal ulcer (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "stress Ulcer" NARROW [DOID:1724, NCIT:C35263] xref: DOID:1724 {source="MONDO:equivalentTo", source="EFO:0004607"} xref: HP:0002588 {source="MONDO:otherHierarchy"} xref: ICD10:K26 xref: ICD10CM:K26 {source="MONDO:equivalentTo", source="DOID:1724"} xref: ICD9:532 {source="DOID:1724", source="EFO:0004607"} xref: MedDRA:10013836 xref: MedDRA:10013854 xref: MedDRA:10013855 xref: MedDRA:10013856 xref: MedDRA:10013857 xref: MedDRA:10013858 xref: MedDRA:10013859 xref: MedDRA:10055243 xref: MedDRA:10055785 xref: MESH:D004381 {source="MONDO:equivalentTo", source="DOID:1724", source="EFO:0004607"} xref: MeSH:D004381 xref: MONDO:0005412 xref: NCIT:C26755 {source="MONDO:equivalentTo", source="DOID:1724", source="EFO:0004607"} xref: NCIt:C26755 xref: SCTID:39755000 {source="MONDO:equivalentTo", source="DOID:1724"} is_a: MONDO:0002866 {source="MESH:D004381/inferred", source="MONDO:Redundant"} ! duodenal disorder is_a: MONDO:0004247 {source="DOID:1724", source="MESH:D004381", source="NCIT:C26755"} ! peptic ulcer disease relationship: EFO:0000784 UBERON:0002114 ! has_disease_location duodenum property_value: definition:citation "D004381" xsd:string property_value: exactMatch DOID:1724 property_value: exactMatch http://identifiers.org/mesh/D004381 property_value: exactMatch http://identifiers.org/snomedct/39755000 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K26 property_value: exactMatch NCIT:C26755 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: IAO:0000589 "duodenal ulcer (disease)" xsd:string [Term] id: EFO:0004608 name: cystic fibrosis associated meconium ileus def: "Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis. In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosis. The presence of meconium ileus is not related to the severity of the cystic fibrosis." [EFO:0004608] def: "Cystic fibrosis associated meconium ileus is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis. In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosis The presence of meconium ileus is not related to the severity of the cystic fibrosis." [] synonym: "cystic fibrosis associated meconium ileum" EXACT [EFO:0004608] synonym: "cystic fibrosis associated meconium ileus" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0005413 is_a: EFO:0010238 {source="https://github.com/monarch-initiative/mondo/issues/685"} ! perinatal disease is_a: MONDO:0004567 ! ileus relationship: EFO:0000784 UBERON:0000160 ! has_disease_location intestine property_value: definition:citation http://en.wikipedia.org/wiki/Meconium_ileus#Meconium_ileus xsd:string property_value: excluded_subClassOf MONDO:0009061 {source="EFO:0004608"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004609 name: treatment refractory schizophrenia def: "Schizophrenia which does not respond to commonly used treatments." [EFO:0004609] synonym: "refractory schizophrenia" EXACT [] synonym: "treatment resistant schizophrenia" EXACT [] synonym: "treatment-refractory schizophrenia" EXACT [PMID:22034144] synonym: "treatment-refractory schizophrenia" EXACT [] {comment="preferred label from MONDO"} synonym: "TRS" BROAD ABBREVIATION [PMID:22034144] xref: MONDO:0005414 is_a: MONDO:0005090 {source="EFO:0004609"} ! schizophrenia property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/11025914 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004610 name: acute lung injury def: "A condition of lung damage that is characterized by bilateral pulmonary infiltrates (pulmonary edema) rich in neutrophils, and in the absence of clinical heart failure. This can represent a spectrum of pulmonary lesions, endothelial and epithelial, due to numerous factors (physical, chemical, or biological)." [MESH:D055371] def: "Acute lung injury (ALI) is a diffuse heterogeneous lung injury characterized by hypoxemia, non cardiogenic pulmonary edema, low lung compliance and widespread capillary leakage. ALI is caused by any stimulus of local or systemic inflammation, principally sepsis." [] subset: ordo_clinical_situation {source="Orphanet:178320"} synonym: "acute lung injury" EXACT [] {comment="preferred label from MONDO"} synonym: "ALI" EXACT [] xref: MedDRA:10069351 {source="Orphanet:178320", source="Orphanet:178320/e"} xref: MESH:D055371 {source="Orphanet:178320", source="EFO:0004610", source="MONDO:equivalentTo", source="Orphanet:178320/e"} xref: MeSH:D055371 xref: MONDO:0015796 xref: NCIT:C155766 {source="MONDO:equivalentTo"} xref: Orphanet:178320 {source="MONDO:equivalentTo"} xref: SCTID:315345002 {source="EFO:0004610", source="MONDO:equivalentTo"} xref: SNOMEDCT:315345002 is_a: EFO:0000546 {source="https://orcid.org/0000-0001-5493-2602"} ! injury is_a: EFO:0003818 {source="EFO:0004610", source="MESH:D055371/inferred"} ! lung disease is_a: MONDO:0020683 ! acute disease property_value: closeMatch http://identifiers.org/meddra/10069351 property_value: definition:citation http://en.wikipedia.org/wiki/Acute_lung_injury xsd:string property_value: exactMatch http://identifiers.org/mesh/D055371 property_value: exactMatch http://identifiers.org/snomedct/315345002 property_value: exactMatch NCIT:C155766 property_value: exactMatch Orphanet:178320 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004611 name: low density lipoprotein cholesterol measurement def: "The measurement of LDL cholesterol in blood used as a risk indicator for heart disease." [] synonym: "LDL measurement" EXACT [] xref: NCIt:C105588 xref: SNOMEDCT:113079009 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0004732 ! lipoprotein measurement is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 CHEBI:18059 ! is_about lipid relationship: IAO:0000136 EFO:0001645 ! is_about coronary artery disease relationship: IAO:0000136 EFO:0004195 ! is_about LDL cholesterol property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004612 name: high density lipoprotein cholesterol measurement def: "The measurement of HDL cholesterol in blood used as a risk indicator for heart disease." [] synonym: "HDL measurement" EXACT [] xref: MedDRA:10020060 xref: NCIt:C105587 xref: SNOMEDCT:28036006 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0004732 ! lipoprotein measurement relationship: IAO:0000136 CHEBI:18059 ! is_about lipid relationship: IAO:0000136 CHEBI:47775 ! is_about high-density lipoprotein cholesterol property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004613 name: obsolete_triglyceride measurement def: "The measurement of triglycerides in blood used as a risk indicator for heart disease." [] property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplication" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0004530 [Term] id: EFO:0004614 name: apolipoprotein A 1 measurement def: "Is a quantification of apolipoprotein A 1 in a sample. It is encoded in humans by the APOA1 gene and is the major protein component of high density lipoprotein (HDL) in plasma. Apolipoprotein A 1 relates to lower observational risk of coronary artery disease." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32113648"} synonym: "apo-AI levels" EXACT [] synonym: "apoA-I levels" EXACT [] synonym: "apolipoprotein A-1 levels" EXACT [] synonym: "apolipoprotein A-I levels" EXACT [] synonym: "apolipoprotein A1 levels" EXACT [] xref: https://www.uniprot.org/uniprotkb/P02647/entry is_a: EFO:0004732 ! lipoprotein measurement is_a: EFO:0004872 ! inflammatory biomarker measurement is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 EFO:0003836 ! is_about lipoprotein relationship: IAO:0000136 GO:0006954 ! is_about inflammatory response property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004615 name: apolipoprotein B measurement def: "The measurement of ApoB in blood. Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). Apo B-100 functions as a recognition signal for the cellular binding and internalization of LDL particles by the apoB/E receptor, and is upregulated in response to enterovirus 71." [] xref: NCIt:C74734 is_a: EFO:0004732 ! lipoprotein measurement relationship: IAO:0000136 EFO:0003836 ! is_about lipoprotein property_value: definition:citation http://www.uniprot.org/uniprot/P04114 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004616 name: osteoarthritis, knee def: "Knee osteoarthritis is a degenerative disease of the knee joint" [] def: "Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019)" [MESH:D020370] synonym: "Knee Osteoarthritides\n" EXACT [] synonym: "Knee Osteoarthritis\n" EXACT [] synonym: "Knee, Osteoarthritis Of\n" EXACT [] synonym: "Knees, Osteoarthritis Of\n" EXACT [] synonym: "Osteoarthritides, Knee\n" EXACT [] synonym: "Osteoarthritis Of Knee\n" EXACT [] synonym: "Osteoarthritis Of Knees" EXACT [] synonym: "osteoarthritis of the knee" EXACT [] synonym: "osteoarthritis, knee" EXACT [] {comment="preferred label from MONDO"} xref: ICD10:M17 xref: MESH:D020370 {source="MONDO:equivalentTo", source="EFO:0004616"} xref: MeSH:D020370 xref: MONDO:0005416 is_a: MONDO:0005178 {source="EFO:0004616", source="MESH:D020370"} ! osteoarthritis property_value: definition:citation http://en.wikipedia.org/wiki/Knee_osteoarthritis xsd:string property_value: exactMatch http://identifiers.org/mesh/D020370 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004617 name: cystatin C measurement def: "is a quantification of serum cystatin C C (formerly gamma trace, post-gamma-globulin or neuroendocrine basic polypeptide),[1] a protein encoded by the CST3 gene, is mainly used as a biomarker of kidney function and kidney disease." [] xref: NCIt:C92290 is_a: EFO:0004742 ! renal system measurement is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 EFO:0003086 ! is_about kidney disease relationship: IAO:0000136 UBERON:0002113 ! is_about kidney property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004618 name: vitamin K measurement def: "is a quantification of Vitamin K or Phylloquinone, a polycyclic aromatic ketone, based on 2-methyl-1,4-naphthoquinone, with a 3-phytyl substituent. It is a fat-soluble vitamin that is stable to air and moisture but decomposes in sunlight. It is found naturally in a wide variety of green plants, particularly leaves, since it functions as an electron acceptor during photosynthesis, forming part of the electron transport chain of Photosystem I." [] synonym: "phylloquinone measurement" EXACT [] xref: NCIt:C74907 xref: SNOMEDCT:105030006 is_a: EFO:0004729 ! vitamin measurement relationship: IAO:0000136 CHEBI:33229 ! is_about vitamin (role) property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004619 name: factor VII measurement def: "Is a quantification of factor VII in serum, (formerly known as proconvertin) is one of the proteins that causes blood to clot in the coagulation cascade. It is an enzyme (EC 3.4.21.21) of the serine protease class. Abnormal measurements of factor VII may be associated with congenital deficiency of factor VII, disseminated intravascular coagulation (DIC), fat malabsorption, liver disease (such as cirrhosis). Vitamin K deficiency, Warfarin (Coumadin) use." [] xref: NCIt:C81960 is_a: EFO:0004634 ! coagulation factor measurement is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 OBI:0000427 ! is_about enzyme property_value: definition:citation http://www.nlm.nih.gov/medlineplus/ency/article/003676.htm xsd:string property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004620 name: vitamin B12 measurement def: "is a quantification of Vitamin B12, vitamin B12 or vitamin B-12, is a water-solublevitamin with a key role in the normal functioning of the brain and nervous system, and for the formation of blood. It is one of the eight B vitamins. It is normally involved in themetabolism of every cell of the human body, especially affecting DNA synthesis and regulation, but also fatty acid synthesis and energy production. It is the largest and most structurally complicated vitamin and can be produced industrially only through bacterial fermentation-synthesis." [] synonym: "vitamin B12 levels" EXACT [] xref: NCIt:C64817 xref: SNOMEDCT:14598005 is_a: EFO:0004843 ! vitamin B measurement relationship: IAO:0000136 CHEBI:33229 ! is_about vitamin (role) property_value: definition:citation http://en.wikipedia.org/wiki/Vitamin_B12 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004621 name: vitamin B6 measurement def: "is a quantification of Vitamin B6 a water soluble vitamin" [] synonym: "vitamin B6 levels" EXACT [] xref: NCIt:C74901 xref: SNOMEDCT:11829003 is_a: EFO:0004843 ! vitamin B measurement relationship: IAO:0000136 CHEBI:33229 ! is_about vitamin (role) property_value: definition:citation http://en.wikipedia.org/wiki/Vitamin_B12 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004622 name: sphingolipid measurement def: "Is a quantification of sphingolipids - molecules playing a role in signal transmission." [] synonym: "Sphingolipid assay" EXACT [] is_a: EFO:0004529 ! lipid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004623 name: fibrinogen measurement def: "is a quantification of circulating fibrinogen (factor I) is a soluble plasma glycoprotein, synthesised by the liver, that is converted by thrombin into fibrin during blood coagulation." [] synonym: "fibrinogen levels" EXACT [] xref: NCIt:C64606 xref: SNOMEDCT:250346004 is_a: EFO:0004503 ! hematological measurement is_a: EFO:0004634 ! coagulation factor measurement is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 EFO:0001941 ! is_about blood component property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004624 name: prostate specific antigen measurement def: "A PSA measurement is the quantification of prostate specific antigen typically in blood used in the diagnosis of prostate cancer." [] synonym: "prostate specific antigen levels" EXACT [] synonym: "PSA levels" EXACT [] synonym: "PSA measurement" EXACT [] xref: NCIt:C17634 xref: SNOMEDCT:63476009 is_a: EFO:0004747 ! protein measurement is_a: EFO:0005127 ! cancer biomarker measurement relationship: IAO:0000136 UBERON:0002367 ! is_about prostate gland property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004625 name: progranulin measurement def: "A progranulin measurement is a quantification of progranulin, typically in blood. Progranulins are secreted glycosylated peptides implicated in frontotemporal disease, and low levels of progranulin are a risk factor for frontotemporal disease" [] synonym: "progranulin levels" EXACT [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 UBERON:0001017 ! is_about central nervous system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004626 name: IGFBP-3 measurement def: "Is the quantification of IGFBP-3, a member of the insulin-like growth factor-binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. Decreased IIGFBP3 protein levels are used as a biomarker for prostate cancer progression." [] synonym: "Insulin-Like Growth Factor Binding Protein 3 levels" EXACT [] is_a: EFO:0004747 ! protein measurement is_a: EFO:0005127 ! cancer biomarker measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004627 name: IGF-1 measurement def: "Is the quantification of Insulin-like growth factor 1 (IGF-1), also called somatomedin C. IGF-1 is a hormone similar in molecular structure to insulin. It plays an important role in childhood growth and continues to have anabolic effects in adults. Levels of IGF-1 are known to increase in some cancers." [] synonym: "Insulin-Like Growth Factor 1 levels" EXACT [] is_a: EFO:0004730 ! hormone measurement is_a: EFO:0004747 ! protein measurement is_a: EFO:0005127 ! cancer biomarker measurement relationship: IAO:0000136 CHEBI:24621 ! is_about hormone relationship: IAO:0000136 CHEBI:36080 ! is_about protein property_value: definition:citation http://en.wikipedia.org/wiki/IGF-1 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004628 name: insulin like growth factor measurement def: "Is a quantification of any of the insulin like growth factors" [] is_a: EFO:0001444 ! measurement property_value: definition:citation "n.wikipedia.org/wiki/Insulin-like_growth_factor" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004629 name: von Willebrand factor measurement def: "Is a quantification of von Willebrand factor (vWF) is a blood glycoprotein involved in hemostasis. It is deficient or defective in von Willebrand disease and is involved in a large number of other diseases, including thrombotic thrombocytopenic purpura, Heyde's syndrome, and possibly hemolytic-uremic syndrome.[1] Increased plasma levels in a large number of cardiovascular, neoplastic, and connective tissue diseases are presumed to arise from adverse changes to the endothelium, and may contribute to an increased risk of thrombosis." [] synonym: "von Willebrand factor levels" EXACT [] synonym: "vWF" EXACT [] xref: NCIt:C98799 is_a: EFO:0004503 ! hematological measurement is_a: EFO:0004634 ! coagulation factor measurement is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 EFO:0001941 ! is_about blood component property_value: definition:citation http://en.wikipedia.org/wiki/Von_Willebrand_factor xsd:string property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004630 name: factor VIII measurement def: "Is a quantification of factor VIII in serum, Factor VIII (FVIII) is an essential blood clotting protein, also known as anti-hemophilic factor (AHF). In humans, Factor VIII is encoded by the F8 gene.[1][2] Defects in this gene results in hemophilia A." [] synonym: "factor VIII levels" EXACT [] xref: NCIt:C81961 is_a: EFO:0004503 ! hematological measurement is_a: EFO:0004634 ! coagulation factor measurement is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 EFO:0001941 ! is_about blood component property_value: definition:citation http://en.wikipedia.org/wiki/Factor_viii xsd:string property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004631 name: vitamin D measurement def: "A quantification of Vitamin D levels, typically in blood. Vitamin D includes both CHOLECALCIFEROLS and ERGOCALCIFEROLS, which have the common effect of preventing or curing RICKETS in animals. It can also be viewed as a hormone since it can be formed in SKIN by action of ULTRAVIOLET RAYS upon the precursors, 7-dehydrocholesterol and ERGOSTEROL, and acts on VITAMIN D RECEPTORS to regulate CALCIUM in opposition to PARATHYROID HORMONE (MeSH).\n25-hydroxyvitamin D or calcifediol, a prehormone precursor of vitamin D, is widely used as a proxy to quanitfy vitamin D levels in blood." [] comment: is about MeSH:D014807 xref: NCIt:C84818 xref: SNOMEDCT:83729008 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0004729 ! vitamin measurement relationship: IAO:0000136 CHEBI:27300 ! is_about vitamin D relationship: IAO:0000136 CHEBI:33229 ! is_about vitamin (role) property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004632 name: nevus count def: "A nevus count is the quantification of nevi on the skin." [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 UBERON:0000014 ! is_about zone of skin property_value: definition:citation https://labtestsonline.org/understanding/analytes/differential/tab/test xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004633 name: protein C measurement def: "Is a quantification of Protein C, also known as autoprothrombin IIA and blood coagulation factor XIV,] is a zymogenic (inactive) protein, the activated form of which plays an important role in regulating blood clotting, inflammation, cell death and maintaining the permeability of blood vessel walls in humans and other animals." [] synonym: "coagulation factor XIV" EXACT [] is_a: EFO:0004503 ! hematological measurement is_a: EFO:0004634 ! coagulation factor measurement is_a: EFO:0004813 ! alpha globulin measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 EFO:0001941 ! is_about blood component property_value: definition:citation http://en.wikipedia.org/wiki/Protein_c xsd:string property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004634 name: coagulation factor measurement def: "A coagulation factor measurement is the quantification of any of the entities involved in the process of coagulation or regulation of coagulation. Abnormal coagulation may result in thrombosis or hemorrhage." [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 GO:0007596 ! is_about blood coagulation relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004635 name: leptin receptor measurement def: "is a quantification of circulating soluble leptin receptor levels, these are inversely associated with diabetes risk factors, including adiposity and insulin resistance, and highly correlated with the expression levels of leptin receptor. Variations in the leptin receptor gene are reported to be associated with obesity." [] synonym: "leptin receptor levels" EXACT [] synonym: "soluble leptin receptor levels" EXACT [] is_a: EFO:0004730 ! hormone measurement is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 EFO:0001073 ! is_about obesity relationship: IAO:0000136 EFO:0003199 ! is_about leptin property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004637 name: protein S measurement def: "is a quantification of protein S, a vitamin K-dependent plasma glycoprotein synthesized in the endothelium involved in anticoagulation and used in the diagnosis of thrombosis." [] xref: NCIt:C100436 is_a: EFO:0004503 ! hematological measurement is_a: EFO:0004634 ! coagulation factor measurement is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 EFO:0001941 ! is_about blood component property_value: definition:citation http://en.wikipedia.org/wiki/Protein_s xsd:string property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004639 name: phospholipid measurement def: "Is a quantification of phospholipids, typically in blood used as a biomarker in diet studies." [] synonym: "plasma phospholipid levels" EXACT [] xref: NCIt:C96623 xref: SNOMEDCT:18284006 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0010968 ! phosphate measurement relationship: IAO:0000136 CHEBI:16247 ! is_about phospholipid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004640 name: haptoglobin measurement synonym: "haptoglobin levels" EXACT [] is_a: EFO:0004503 ! hematological measurement is_a: EFO:0004813 ! alpha globulin measurement relationship: IAO:0000136 EFO:0001941 ! is_about blood component property_value: definition:citation http://www.nlm.nih.gov/medlineplus/ency/article/003634.htm xsd:string property_value: definition:citation "Is a quantifictaion of blood haptoglobin. This test is used as in the diagnosis of tranfusion reaction and haemolytic anaemia." xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004641 name: white matter integrity def: "White matter integrity is a measure of brain white matter using brain imaging and quantification techniques. White matter integrity is used as a measure of CNS function." [] is_a: EFO:0004464 ! brain measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004642 name: cortisol secretion measurement def: "iI a quantification of secreted cortisol, typically in the blood. Some studies report increased cortisol in depressive patients." [] is_a: EFO:0004529 ! lipid measurement is_a: EFO:0004730 ! hormone measurement is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 CHEBI:26764 ! is_about steroid hormone relationship: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder relationship: IAO:0000136 EFO:0001379 ! is_about endocrine system disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004643 name: obsolete_coronory artery calcification def: "Is a quantification of `Calcification` (PATO:0001447) affecting the `coronary arteries` (FMA:3800) (dtefined by the HPO) typically measured by tomography . Calcification of vasculature is is associated with myocardial infarction." [] property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate class, use http://www.ebi.ac.uk/efo/EFO_0004723 instead" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0004723 [Term] id: EFO:0004644 name: TPE interval measurement def: "Is a measurement of the T-peak to T-end (TPE) interval on an electrocardiogram, is a measure of myocardial dispersion of repolarization and is associated with an increased risk of ventricular arrhythmias." [] is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 EFO:0004269 ! is_about cardiac arrhythmia relationship: IAO:0000136 UBERON:0004535 ! is_about cardiovascular system property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/22342860 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004645 name: response to vaccine def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vaccine. A vaccine is a preparationcontaining substances with antigenic properties administered to activate the immune system, thereby inducing an immune response." [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004647 name: response to platinum based chemotherapy def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a platinum based chemotherapy stimulus." [] is_a: GO:0097327 ! response to antineoplastic agent property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004653 name: response to TNF antagonist def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a TNF antagonist." [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004655 name: obsolete_response to methylphenidate property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced by a GO imported term" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/GO_0036271 [Term] id: EFO:0004661 name: obsolete_response to flurouracil property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "imported from GO" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/GO_0036275 [Term] id: EFO:0004663 name: processed genotype data file def: "A processed genotype data file is a data file which stores information about genotypeswhich has been processed by some form of analysis method, for example normalization or noise reduction." [] is_a: EFO:0004095 ! data file [Term] id: EFO:0004664 name: binding site identification design def: "A binding site identification design type investigates protein binding sites on nucleic acids. Non-exact synonym: ChIP, chromatin immunoprecipitation, chromatin IP." [] synonym: "binding_site_identification_design" EXACT [] xref: MO:933 is_a: EFO:0004665 ! biomolecular annotation design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string [Term] id: EFO:0004665 name: biomolecular annotation design def: "Biomolecular annotation study design types are those which are designed to investigate functions, processes, locations and identity at the molecular level e.g. genotyping." [] xref: MO:213 is_a: EFO:0001426 ! study design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string [Term] id: EFO:0004666 name: cellular modification design def: "A cellular modification design type is where a modification of the transcriptome, proteome (not genome) is made, for example RNAi, antibody targeting." [] synonym: "cellular_modification_design" EXACT [] xref: MO:392 is_a: EFO:0004667 ! biological variation design property_value: IAO:0000117 "Jon Ison" xsd:string property_value: IAO:0000117 "Natalja Kurbatova" xsd:string [Term] id: EFO:0004667 name: biological variation design def: "A biological variation study design type investigates differences caused by intrinsic characteristics of an organism(s) or biological system; epidemiological reasons (history of biosources); manipulation, treatment or modification of an organism(s)." [] is_a: EFO:0001426 ! study design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string [Term] id: EFO:0004668 name: array specific design def: "Methodological variation study design specific for array technology" [] is_a: EFO:0004669 ! methodological variation design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string [Term] id: EFO:0004669 name: methodological variation design def: "A methodological variation study design type investigates differences caused by application of protocols, hardware, software and bioassay relationships." [] is_a: EFO:0001426 ! study design property_value: IAO:0000117 "Natalja Kurbatova" xsd:string [Term] id: EFO:0004670 name: beta-amyloid 1-42 measurement def: "Is the quantification of Beta-amyloid 1-42 in cerebrospinal fluid typically used as a biomarker for Alzheimer's Disease" [] synonym: "amyloid-beta 1-42 measurement" EXACT [] synonym: "CSF AB1-42 levels" EXACT [] synonym: "CSF Aβ1-42 levels" EXACT [] is_a: EFO:0004747 ! protein measurement is_a: EFO:0006514 ! Alzheimer's disease biomarker measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 MONDO:0004975 ! is_about Alzheimer disease property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004672 name: obsolete_response to gemcitabine property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "imported from GO" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/GO_0036272 [Term] id: EFO:0004673 name: obsolete_response to lapatinib property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "imported from GO" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/GO_0036274 [Term] id: EFO:0004675 name: obsolete_response to antidepressant property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "imported from GO" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/GO_0036276 [Term] id: EFO:0004676 name: obsolete_response to diruetic property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "imported from GO" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/GO_0036270 [Term] id: EFO:0004677 name: obsolete_response to anticonvulsant property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "imported from GO" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/GO_0036277 [Term] id: EFO:0004678 name: obsolete_response to statin property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "imported from GO" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/GO_0036273 [Term] id: EFO:0004679 name: obsolete_response to glucocorticoid property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "imported from GO" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/GO_0051384 [Term] id: EFO:0004680 name: obsolete_response to interferon beta property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "imported from GO" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/GO_0035456 [Term] id: EFO:0004681 name: obsolete_response to lithium property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "imported from GO" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/GO_0010226 [Term] id: EFO:0004682 name: QT interval def: "The QT interval is a measure of the time between the start of the Q wave and the end of the T wave in the heart's electrical cycle" [] xref: MedDRA:10037701 xref: NCIt:C83501 is_a: EFO:0000719 ! temporal measurement is_a: EFO:0004327 ! electrocardiography relationship: IAO:0000136 UBERON:0004535 ! is_about cardiovascular system property_value: definition:citation http://en.wikipedia.org/wiki/QT_interval xsd:string property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004683 name: wet macular degeneration def: "A form of RETINAL DEGENERATION in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision." [] def: "A form of RETINAL degeneration in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision." [MESH:D057135] synonym: "choroidal neovascularization" EXACT [] synonym: "exudative senile macular degeneration of retina" EXACT [DOID:10873, ICD9CM:362.52] synonym: "Kuhnt-Junius degeneration" EXACT [] synonym: "Kuhnt-Junius degeneration" RELATED [DOID:10873] synonym: "neovascular age-related macular degeneration" EXACT [DOID:10873] synonym: "Senile macular degeneration, wet" EXACT [DOID:10873] synonym: "wet age related macular degeneration" EXACT [MedDRA:10075568, PMID:16178119] synonym: "wet AMD" EXACT [MedDRA:10075568, PMID:16178119] synonym: "wet ARMD" EXACT [MedDRA:10075568, PMID:16178119] synonym: "wet macular degeneration" EXACT [] {comment="preferred label from MONDO"} synonym: "wet senile macular retinal degeneration" EXACT [DOID:10873] xref: DOID:10873 {source="EFO:0004683", source="MONDO:equivalentTo"} xref: ICD9:362.52 {source="DOID:10873", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10067791 xref: MESH:D057135 {source="EFO:0004683", source="MONDO:equivalentTo"} xref: MeSH:D057135 xref: MONDO:0005417 xref: SCTID:414173003 {source="DOID:10873", source="MONDO:equivalentTo"} xref: UMLS:C0271084 {source="DOID:10873", source="MONDO:equivalentTo"} xref: UMLS:C2237660 {source="MONDO:equivalentTo"} is_a: EFO:0001365 {source="EFO:0004683"} ! age-related macular degeneration property_value: definition:citation "D057135" xsd:string property_value: exactMatch DOID:10873 property_value: exactMatch http://identifiers.org/mesh/D057135 property_value: exactMatch http://identifiers.org/snomedct/414173003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271084 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2237660 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004684 name: tumor necrosis factor-alpha measurement def: "Is a quantification of tumor necrosis factor-alpha, a cytokine involved in systemic inflammation and is a member of a group of cytokines that stimulate the acute phase reaction. It is produced chiefly by activated macrophages, although it can be produced by other cell types as well. The measurement is used as a biomarker for inflammation and is typically performed on a blood sample." [] is_a: EFO:0004872 ! inflammatory biomarker measurement is_a: EFO:0004873 ! cytokine measurement relationship: IAO:0000136 EFO:0003271 ! is_about tumor necrosis factor-alpha relationship: IAO:0000136 GO:0006954 ! is_about inflammatory response property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004685 name: hip geometry def: "Measurements of the hip." [] is_a: EFO:0004324 ! body weights and measures is_a: EFO:0004512 ! bone measurement relationship: IAO:0000136 UBERON:0001474 ! is_about bone element property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004686 name: non-compaction cardiomyopathy def: "Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates." [EFO:0004686] synonym: "ncCM" EXACT [] synonym: "non-compaction cardiomyopathy" EXACT [] {comment="preferred label from MONDO"} xref: MedDRA:10079253 xref: MONDO:0005418 is_a: EFO:0000318 {source="EFO:0004686"} ! cardiomyopathy property_value: definition:citation http://purl.obolibrary.org/obo/HP_0011664 xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004687 name: obsolete_inherited arrhythmia def: "A cardiac arrthythmia with a genetic cause." [] synonym: "inherited cardiac arrthythmia" EXACT [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Reorganised into Orphanet hierarchy" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0004688 name: obsolete_long QT syndrome def: "Increased time between the start of the Q wave and the end of the T wave." [] synonym: "LQTS" EXACT [] synonym: "Prolonged QT interval on EKG" EXACT [] property_value: definition:citation http://purl.obolibrary.org/obo/HP_0001657 xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_768' instead.\nNew Label : Familial long QT syndrome" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_768 [Term] id: EFO:0004689 name: obsolete_Jervell and Lange-Nielsen syndrome def: "A form of long QT syndrome that is associated with congenital deafness. It is characterized by abnormal cardioelectrophysiology involving the VOLTAGE-GATED POTASSIUM CHANNEL. It results from mutation of KCNQ1 gene (Subtype 1 or JLN1) or the KCNE1 gene (Subtype 2 or JLN2)." [] synonym: "Cardioauditory Syndrome of Jervell and Lange Nielsen" EXACT [] synonym: "Cardioauditory Syndrome of Jervell and Lange-Nielsen" EXACT [] synonym: "Deafness, Congenital, and Functional Heart Disease" EXACT [] synonym: "Jervell and Lange Nielsen Syndrome" EXACT [] synonym: "Jervell and Lange-Nielsen Syndrome" EXACT [] synonym: "Jervell Lange Nielsen Syndrome" EXACT [] synonym: "JLNS" EXACT [] synonym: "Prolonged QT Interval in EKG and Sudden Death" EXACT [] synonym: "Surdo Cardiac Syndrome" EXACT [] synonym: "Surdo-Cardiac Syndrome" EXACT [] synonym: "Surdo-Cardiac Syndromes" EXACT [] synonym: "Syndrome, Jervell-Lange Nielsen" EXACT [] synonym: "Syndrome, Surdo-Cardiac" EXACT [] property_value: definition:citation http://purl.bioontology.org/ontology/MSH/D029593 xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_90647' instead.\nNew Label : Jervell and Lange-Nielsen syndrome" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_90647 [Term] id: EFO:0004690 name: obsolete_short QT syndrome def: "Ventricular tachyarrhythmias occurring in association with short QT syndrome" [] synonym: "SQTS" EXACT [] property_value: definition:citation http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Short_QT_Syndrome xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_51083' instead.\nNew Label : Familial short QT syndrome" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_51083 [Term] id: EFO:0004691 name: obsolete_Brugada syndrome def: "A condition characterized by a pattern of right bundle branch block (RBBB) and ST-segment elevation within electrocardiogram (ECG) leads V1-V3. This pattern emerges as a result of a defect in ion channel genes, resulting in abnormal electrophysiological activity in the right ventricle and a propensity to malignant tachyarrhythmias." [] property_value: definition:citation "BrS" xsd:string property_value: definition:citation http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Brugada_Syndrome xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_130' instead.\nNew Label : Brugada syndrome" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_130 [Term] id: EFO:0004692 name: obsolete_Catecholaminergic polymorphic ventricular tachycardia def: "Ventricular Tachycardia associated with syncope and/or cardiac arrest triggered by emotion or exercise in patients whose baseline ECG is normal. (ACC)" [] synonym: "CPVT" EXACT [] property_value: definition:citation http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Catecholaminergic_Polymorphic_Ventricular_Tachycardia xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_3286' instead.\nNew Label : Catecholaminergic polymorphic ventricular tachycardia" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_3286 [Term] id: EFO:0004693 name: obsolete_fetal hemoglobin measurement def: "Is a quantification of fetal hemoglobin in blood." [] synonym: "HbF level" EXACT [] synonym: "hemoglobin F measurement" EXACT [] property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0004576 [Term] id: EFO:0004694 name: factor XI measurement def: "Is a quantification of Factor XI, typically in blood. Factor Xi is a serine protease involved in the process of coagulation." [] is_a: EFO:0004503 ! hematological measurement is_a: EFO:0004634 ! coagulation factor measurement is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 EFO:0001941 ! is_about blood component relationship: IAO:0000136 OBI:0000427 ! is_about enzyme property_value: definition:citation http://en.wikipedia.org/wiki/Factor_XI xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004695 name: intraocular pressure measurement def: "Is a quantification of intraocular pressure. Increased intraocular pressure is a heritable risk factor for primary open angle glaucoma." [] is_a: EFO:0004731 ! eye measurement relationship: IAO:0000136 MONDO:0005041 ! is_about glaucoma relationship: IAO:0000136 UBERON:0000970 ! is_about eye property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004696 name: sex hormone-binding globulin measurement def: "Is a quantification of sex hormone binding globulin. In men the test is used in when investigating testosterone deficiency. The SHBG glycoprotein binds to circulating estradiol and testosterone, low levels of SHBG may be implicated in breast cancer etiology." [] synonym: "SHBG level" EXACT [] synonym: "SHBG levels" EXACT [] is_a: EFO:0004555 ! glycoprotein measurement is_a: EFO:0011008 ! sex hormone measurement relationship: IAO:0000136 CHEBI:50112 ! is_about sex hormone relationship: IAO:0000136 EFO:0000660 ! is_about polycystic ovary syndrome relationship: IAO:0000136 EFO:0003941 ! is_about sex hormone-binding globulin property_value: definition:citation http://labtestsonline.org.uk/understanding/analytes/shbg/tab/test/ xsd:string property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/22675492 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004697 name: estradiol measurement def: "Is a quantification of circulating estradiol a circulating steriod sex hormone." [] synonym: "estradiol levels" EXACT [] synonym: "oestrogen level" EXACT [] synonym: "oestrogen levels" EXACT [] xref: NCIt:C74782 xref: SNOMEDCT:37538009 is_a: EFO:0011007 ! estrogen measurement relationship: IAO:0000136 CHEBI:50112 ! is_about sex hormone property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004698 name: insomnia def: "A sleep disorder characterized by difficulty in falling asleep and/or remaining asleep." [NCIT:P378] def: "Disorders characterized by impairment of the ability to initiate or maintain sleep. This may occur as a primary disorder or in association with another medical or psychiatric condition" [] synonym: "delayed sleep phase disorder, susceptibility to" RELATED [OMIM:614163] synonym: "delayed sleep phase syndrome, susceptibility to" RELATED [MONDO:Lexical, OMIM:614163] synonym: "DSPD" RELATED ABBREVIATION [OMIM:614163] synonym: "DSPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614163] synonym: "insomnia" EXACT [MONDO:ambiguous] synonym: "insomnia" EXACT [] {comment="preferred label from MONDO"} synonym: "insomnia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0100785 {source="EFO:0004698", source="MONDO:otherHierarchy"} xref: ICD10CM:G47.0 {source="MONDO:equivalentTo"} xref: ICD10WHO:G47.0 {source="MONDO:equivalentTo"} xref: ICD9:780.52 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10022437 xref: MESH:D007319 {source="MONDO:equivalentTo"} xref: MONDO:0013600 xref: NCIT:C28286 {source="EFO:0004698", source="MONDO:equivalentTo"} xref: NCIt:C28286 xref: OMIM:614163 xref: SCTID:193462001 {source="EFO:0004698", source="MONDO:equivalentTo"} xref: SNOMEDCT:193462001 xref: UMLS:C0393770 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:directSiblingOf"} is_a: EFO:0008568 {source="https://github.com/monarch-initiative/mondo/issues/531"} ! Sleep Disorder relationship: EFO:0000784 UBERON:0000955 ! has_disease_location brain property_value: definition:citation "D007319" xsd:string property_value: exactMatch http://identifiers.org/mesh/D007319 property_value: exactMatch http://identifiers.org/snomedct/193462001 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G47.0 property_value: exactMatch https://icd.who.int/browse10/2019/en#/G47.0 property_value: exactMatch NCIT:C28286 property_value: excluded_subClassOf MONDO:0003406 {source="EFO:0004698", source="ICD10CM:G47.0", source="MESH:D007319/inferred", source="NCIT:C28286"} property_value: excluded_subClassOf MONDO:0005084 {source="EFO:0004698", source="EFO:0004698/inferred"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: IAO:0000589 "insomnia (disease)" xsd:string [Term] id: EFO:0004699 name: gambling behaviour def: "An activity distinguished primarily by an element of risk in trying to obtain a desired goal, e.g., playing a game of chance for money." [] synonym: "gambling" EXACT [] xref: MeSH:D005715 xref: SNOMEDCT:105523009 is_a: GO:0007610 ! behavior property_value: definition:citation "D005715" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004701 name: methamphetamine dependence def: "A drug dependence that is a psychological dependency on the regular use of metamphetamine." [EFO:0004701] def: "A drug dependence that is a psychological dependency on the regular use of methamphetamine." [] synonym: "Amphetamine-Related Disorders" EXACT [] synonym: "metamphetamine addiction" EXACT [] synonym: "metamphetamine dependence" EXACT [] {comment="preferred label from MONDO"} xref: MeSH:D019969 xref: MONDO:0005419 is_a: EFO:0003890 {source="EFO:0004701"} ! drug dependence property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Gautier Koscielny" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:0004702 name: obsolete_response to iloperidone def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) in response to iloperidone, an atypical antipsychotic used in the treatment of schizophrenia." [] comment: Awaiting a GO import property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Imported from GO." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/GO_0036287 [Term] id: EFO:0004703 name: age at menarche def: "The age of onset of (human) menarche, the beginning of the first menstrual cycle in an individual" [] xref: NCIt:C19666 xref: SNOMEDCT:398700009 is_a: EFO:0000246 ! age relationship: IAO:0000136 EFO:0003930 ! is_about menarche property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004704 name: age at menopause def: "The age of onset of (human) menopause, the beginning of the first menstrual cycle in an individual" [] xref: NCIt:C106497 is_a: EFO:0000246 ! age relationship: IAO:0000136 EFO:0003922 ! is_about menopause property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004705 name: hypothyroidism def: "A deficiency of thyroid hormone." [] def: "Abnormally low levels of thyroid hormone." [NCIT:P378] synonym: "hypothyroid" RELATED [] synonym: "hypothyroidism" EXACT [] {comment="preferred label from MONDO"} synonym: "thyroid deficiency" EXACT [DOID:1459] synonym: "thyroid insufficiency" EXACT [DOID:1459] synonym: "underactive thyroid" EXACT [NCIT:C26800] xref: DOID:1459 {source="MONDO:equivalentTo", source="EFO:0004705"} xref: ICD10:E03 xref: ICD9:244.9 {source="DOID:1459"} xref: MedDRA:10021114 xref: MESH:D007037 {source="MONDO:equivalentTo", source="EFO:0004705", source="DOID:1459"} xref: MeSH:D007037 xref: MONDO:0005420 xref: NCIT:C26800 {source="MONDO:equivalentTo", source="EFO:0004705", source="DOID:1459"} xref: NCIt:C26800 xref: SCTID:40930008 {source="MONDO:equivalentTo", source="EFO:0004705", source="DOID:1459"} xref: SNOMEDCT:40930008 is_a: EFO:1000627 {source="DOID:1459", source="MESH:D007037", source="NCIT:C26800/inferred"} ! thyroid disease relationship: EFO:0000784 UBERON:0002046 ! has_disease_location thyroid gland property_value: definition:citation http://purl.obolibrary.org/obo/HP_0000821 xsd:string property_value: exactMatch DOID:1459 property_value: exactMatch http://identifiers.org/mesh/D007037 property_value: exactMatch http://identifiers.org/snomedct/40930008 property_value: exactMatch NCIT:C26800 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004707 name: infantile hypertrophic pyloric stenosis def: "An abnormality characterized by thickening of the muscle in the wall of the pylorus. It results in the narrowing of the pyloric channel. The overlying mucosa may appear hypertrophic as well. Clinical signs and symptoms appear early in life and include projectile vomiting and dehydration." [NCIT:P378] def: "This condition is caused by diffuse hypertrophy and hyperplasia of the smooth muscle of the antrum of the stomach and pylorus. It usually occurs in infants aged 2-8 weeks. The pyloric muscle hypertrophy results in narrowing of the pyloric canal, which can then become easily obstructed. Genetic studies have identified susceptibility loci for infantile hypertrophic pyloric stenosis (IHPS) and molecular studies have concluded that smooth muscle cells are not properly innervated in this condition." [] synonym: "congenital constriction of the pylorus" EXACT [NCIT:C98952] synonym: "congenital hypertrophic pyloric stenosis" EXACT [DOID:12638] synonym: "congenital Hypertrophy of the pylorus" EXACT [NCIT:C98952] synonym: "congenital or infantile stricture of pylorus" EXACT [DOID:12638] synonym: "congenital pyloric stenosis" EXACT [NCIT:C98952] synonym: "congenital stricture of the pylorus" EXACT [NCIT:C98952] synonym: "hypertrophic pyloric stenosis" EXACT [] {comment="preferred label from MONDO"} synonym: "IHPS" EXACT ABBREVIATION [] synonym: "infantile constriction of the pylorus" EXACT [NCIT:C98952] synonym: "infantile hypertrophic pyloric stenosis" EXACT [MONDO:0005421] synonym: "infantile Hypertrophy of the pylorus" EXACT [NCIT:C98952] synonym: "infantile pyloric stenosis" EXACT [NCIT:C98952] synonym: "infantile stricture of the pylorus" EXACT [NCIT:C98952] synonym: "pyloric stenosis, infantile" EXACT [MONDO:0000092] xref: DOID:12638 {source="MONDO:equivalentTo"} xref: ICD10CM:Q40.0 {source="DOID:12638", source="MONDO:equivalentTo"} xref: ICD9:750.5 {source="DOID:12638", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D046248 {source="DOID:12638", source="MONDO:equivalentTo"} xref: MONDO:0001560 xref: NCIT:C98952 {source="DOID:12638", source="MONDO:equivalentTo"} xref: SCTID:48644003 {source="DOID:12638", source="MONDO:equivalentTo"} is_a: EFO:0009431 {source="EFO:0004707"} ! intestinal disease is_a: EFO:0009626 {source="DOID:12638", source="DOID:12638/inferred", source="MESH:D046248", source="MESH:D046248/inferred", source="NCIT:C98952"} ! pyloric stenosis property_value: definition:citation "Panteli C; New insights into the pathogenesis of infantile pyloric stenosis. Pediatr Surg Int. 2009 Dec;25(12):1043-52. Epub 2009 Sep 16. [abstract]" xsd:string property_value: exactMatch DOID:12638 property_value: exactMatch http://identifiers.org/mesh/D046248 property_value: exactMatch http://identifiers.org/snomedct/48644003 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q40.0 property_value: exactMatch NCIT:C98952 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004708 name: nodular sclerosis Hodgkin lymphoma def: "A subtype of classical Hodgkin lymphoma characterized by collagen bands that surround at least one nodule, and Hodgkin and Reed-Sternberg cells with lacunar type morphology. (WHO, 2008)" [NCIT:C3518] synonym: "classical Hodgkin lymphoma, nodular sclerosis" EXACT [DOID:8838] synonym: "Hodgkin lymphoma, nodular sclerosis" EXACT [DOID:8838] synonym: "Hodgkin's disease nodular sclerosis" EXACT [DOID:8838] synonym: "Hodgkin's disease, nodular sclerosis" RELATED [DOID:8838] synonym: "Hodgkin's disease, nodular sclerosis NOS (morphologic abnormality)" EXACT [DOID:8838] synonym: "Hodgkin's disease, nodular sclerosis of unspecified site" EXACT [DOID:8838] synonym: "Hodgkin's lymphoma, nodular sclerosis" RELATED [DOID:8838] synonym: "Hodgkin's nodular sclerosis" EXACT [NCIT:C3518] synonym: "nodular sclerosis Classic Hodgkin lymphoma" EXACT [NCIT:C3518] synonym: "nodular sclerosis classical Hodgkin lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "nodular sclerosis classical Hodgkin lymphoma" EXACT [] {comment="preferred label from MONDO"} synonym: "nodular sclerosis classical Hodgkin lymphoma" EXACT [NCIT:C3518] synonym: "nodular sclerosis Hodgkin lymphoma" EXACT [MONDO:0005422, NCIT:C3518] synonym: "nodular sclerosis Hodgkin's disease" EXACT [NCIT:C3518] synonym: "nodular sclerosis Hodgkin's lymphoma" EXACT [NCIT:C3518] synonym: "NSCHL" EXACT ABBREVIATION [NCIT:C3518] synonym: "NSHD" EXACT ABBREVIATION [NCIT:C3518] synonym: "NSHL" EXACT ABBREVIATION [DOID:8838, NCIT:C3518] xref: COHD:4038842 {source="MONDO:equivalentTo"} xref: DOID:8838 {source="MONDO:equivalentTo"} xref: EFO:0004708 {source="MONDO:equivalentTo"} xref: http://www.ncbi.nlm.nih.gov/pubmed/22086417 xref: ICD10:C81.1 {source="DOID:8838"} xref: ICD9:201.5 {source="DOID:8838"} xref: ICDO:9663/3 {source="NCIT:C3518"} xref: MONDO:0004665 xref: NCIT:C3518 {source="MONDO:equivalentTo", source="DOID:8838", source="EFO:0004708"} xref: ONCOTREE:NSCHL {source="MONDO:equivalentTo"} xref: SCTID:118608000 {source="MONDO:equivalentTo", source="DOID:8838"} is_a: MONDO:0009348 {source="NCIT:C3518", source="ONCOTREE:NSCHL"} ! classic Hodgkin lymphoma property_value: closeMatch http://identifiers.org/snomedct/134178004 property_value: closeMatch http://identifiers.org/snomedct/188564003 property_value: closeMatch http://identifiers.org/snomedct/188573006 property_value: closeMatch http://identifiers.org/snomedct/52248008 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152268 property_value: exactMatch DOID:8838 property_value: exactMatch DOID:8838 property_value: exactMatch http://identifiers.org/snomedct/118608000 property_value: exactMatch http://identifiers.org/snomedct/118608000 property_value: exactMatch NCIT:C3518 property_value: exactMatch NCIT:C3518 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004709 name: obsolete_orofacial cleft def: "A cleft resulting from incomplete merging or fusion of embryonic facial processes normally uniting in the formation of the face, cleft lip or cleft palate." [] property_value: definition:citation http://www.medilexicon.com/medicaldictionary.php?t=18132 xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32.2" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "using orphanet orofacial clefting syndrome instead" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_139039 [Term] id: EFO:0004710 name: pelvic organ prolapse def: "Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines." [] def: "Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Symptoms often include vaginal discomfort, dyspareunia; urinary stress incontinence; and fecal incontinence." [MESH:D056887] comment: Text of OMIM 613088 points to OMIM 176780 for disease description. synonym: "Organ Prolapse, Pelvic" EXACT [] synonym: "Organ Prolapses, Pelvic" EXACT [] synonym: "pelvic organ prolapse" EXACT [] {comment="preferred label from MONDO"} synonym: "Pelvic Organ Prolapses" EXACT [] synonym: "POP" EXACT [] synonym: "Prolapse, Pelvic Organ" EXACT [] synonym: "Prolapse, Urogenital" EXACT [] synonym: "Prolapse, Vaginal Vault" EXACT [] synonym: "Prolapses, Pelvic Organ" EXACT [] synonym: "Prolapses, Urogenital" EXACT [] synonym: "Prolapses, Vaginal Vault" EXACT [] synonym: "Urogenital Prolapse" EXACT [] synonym: "Urogenital Prolapses" EXACT [] synonym: "Vaginal Vault Prolapse" EXACT [] synonym: "Vaginal Vault Prolapses" EXACT [] synonym: "Vault Prolapse, Vaginal" EXACT [] synonym: "Vault Prolapses, Vaginal" EXACT [] xref: MESH:D056887 {source="EFO:0004710", source="MONDO:equivalentTo"} xref: MeSH:D056887 xref: MONDO:0000082 xref: SCTID:237113009 {source="EFO:0004710", source="MONDO:equivalentTo"} xref: SNOMEDCT:237113009 xref: UMLS:C0877015 {source="MONDO:equivalentTo"} is_a: EFO:0000512 {source="EFO:0004710"} ! reproductive system disease property_value: definition:citation "D056887" xsd:string property_value: exactMatch http://identifiers.org/mesh/D056887 property_value: exactMatch http://identifiers.org/snomedct/237113009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0877015 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004711 name: elephantiasis def: "Elephantiasis is a result of a complex interplay between several factors: the worm, the symbiotic Wolbachia bacteria within the worm, the host’s immune response, and the numerous opportunistic infections and disorders that arise." [] def: "Enlargement of an area of the body due to obstruction within the lymphatic system and the resulting accumulation of lymph." [NCIT:P378] synonym: "elephantiasis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:4976 {source="MONDO:equivalentTo", source="EFO:0004711"} xref: MedDRA:10014472 xref: MESH:D004604 {source="DOID:4976", source="MONDO:equivalentTo", source="EFO:0004711"} xref: MeSH:D004604 xref: MONDO:0005424 xref: NCIt:C34569 xref: SCTID:240820001 {source="MONDO:relatedTo", source="DOID:4976"} xref: UMLS:C0013882 {source="DOID:4976", source="MONDO:equivalentTo"} is_a: MONDO:0019297 {source="DOID:4976", source="MESH:D004604"} ! lymphedema property_value: exactMatch DOID:4976 property_value: exactMatch http://identifiers.org/mesh/D004604 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013882 [Term] id: EFO:0004712 name: podoconiosis def: "A disease of the lymphatic vessels of the lower extremities that is caused by chronic exposure to irritant soils." [Wikipedia:Podoconiosis] def: "A form of elephantiasis in which no parasitic infection is detected." [] synonym: "elephantiasis from soil" EXACT [] synonym: "non-filarial elephantiasis" EXACT [Wikipedia:Podoconiosis] synonym: "nonfilarial elephantiasis" EXACT [Wikipedia:Podoconiosis] synonym: "podoconiosis" EXACT [] {comment="preferred label from MONDO"} synonym: "soil elephantiasis" EXACT [MONDO:patterns/environmental_stimulus] xref: DOID:0050138 {source="EFO:0004712", source="MONDO:equivalentTo"} xref: ICD9:457.1 xref: MONDO:0005425 xref: SCTID:47595008 {source="EFO:0004712", source="MONDO:equivalentTo"} xref: SNOMEDCT:47595008 is_a: EFO:0004711 {source="DOID:0050138", source="EFO:0004712", source="MONDO:Redundant"} ! elephantiasis property_value: definition:citation http://en.wikipedia.org/wiki/Elephantiasis xsd:string property_value: exactMatch DOID:0050138 property_value: exactMatch http://identifiers.org/snomedct/47595008 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004713 name: FEV/FEC ratio synonym: "FEV/FVC" EXACT [] synonym: "FEV1/FVC" EXACT [] is_a: EFO:0003892 ! pulmonary function measurement is_a: EFO:0006841 ! respiratory disease biomarker relationship: IAO:0000136 EFO:0000684 ! is_about respiratory system disease relationship: IAO:0000136 UBERON:0001004 ! is_about respiratory system property_value: definition:citation "Is the measurement of the ratio of forced expiratory volume (FEV) to forced vital capacity (FCV), used as a measure of pulmonary function." xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004714 name: sexual dysfunction def: "Disturbances in sexual desire and the psychophysiologic changes that characterize the sexual response cycle and cause marked distress and interpersonal difficulty." [] xref: DOID:1876 xref: ICD10:F52 xref: MedDRA:10040477 xref: NCIt:C3347 is_a: HP:0000708 ! Atypical behavior property_value: definition:citation http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Sexual_Dysfunction xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004715 name: MRI defined brain infarct def: "An infarct detected by MRI and not determined to be clinically significant" [EFO:0004715] comment: This term represents a finding not a disease, it may be obsoleted in future synonym: "covert MRI infarct" EXACT [] synonym: "MRI defined brain infarct" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0005426 is_a: EFO:0004277 {source="EFO:0004715"} ! brain infarction property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004716 name: obsolete_thyrotoxic periodic paralysis def: "Thyrotoxic periodic paralysis (TPP) is a condition featuring attacks of muscle weakness in the presence of hyperthyroidism (overactivity of the thyroid gland). Hypokalemia (a decreased potassium level in the blood) is usually present during attacks. The condition may be life-threatening if weakness of the breathing muscles leads to respiratory failure, or if the low potassium levels lead to cardiac arrhythmias (irregularities in the heart rate). If untreated, it is typically recurrent in nature. The condition has been linked with genetic mutations in genes that code for certain ion channels that transport electrolytes (sodium and potassium) across cell membranes. The main ones are the L-type calcium channel α1-subunit and potassium inward rectifier 2.6 it is therefore classified as a channelopathy The abnormality in the channel is thought to lead to shifts of potassium into cells, under conditions of high thyroxine (thyroid hormone) levels, usually with an additional precipitant.\nTreatment of the hypokalemia, followed by correction of the hyperthyroidism, leads to complete resolution of the attacks. It occurs predominantly in males of Chinese, Japanese, Vietnamese, Filipino, and Korean descent. TPP is one of several conditions that can cause periodic paralysis." [] synonym: "TPP" EXACT [] property_value: definition:citation http://en.wikipedia.org/wiki/Thyrotoxic_periodic_paralysis xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_79102' instead.\nNew Label : Thyrotoxic periodic paralysis" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_79102 [Term] id: EFO:0004718 name: vascular dementia def: "A degenerative vascular disorder affecting the brain. It is caused by the blockage of the blood supply to the brain. It is manifested with decline of memory and cognitive functions." [NCIT:C34525] def: "An imprecise term referring to dementia associated with CEREBROVASCULAR DISORDERS, including CEREBRAL INFARCTION (single or multiple), and conditions associated with chronic BRAIN ISCHEMIA. Diffuse, cortical, and subcortical subtypes have been described. (From Gerontol Geriatr 1998 Feb;31(1):36-44)" [] synonym: "Arteriosclerotic Dementias" EXACT [] synonym: "Dementias, Vascular" EXACT [] synonym: "multi infarct dementia" NARROW [DOID:8725, MTH:NOCODE, NCIT:C34522] synonym: "multifocal dementia" RELATED [DOID:8725] synonym: "vascular dementia" EXACT [] {comment="preferred label from MONDO"} synonym: "vascular dementia" EXACT [NCIT:C34525] synonym: "Vascular Dementias" EXACT [] xref: DOID:8725 {source="MONDO:equivalentTo"} xref: ICD9:290.4 {source="DOID:8725"} xref: MedDRA:10047055 xref: MedDRA:10047056 xref: MedDRA:10047057 xref: MedDRA:10047058 xref: MedDRA:10057678 xref: MESH:D015140 {source="DOID:8725", source="MONDO:equivalentTo"} xref: MONDO:0004648 xref: NCIT:C34525 {source="DOID:8725", source="MONDO:equivalentTo"} xref: SCTID:429998004 {source="DOID:8725", source="MONDO:equivalentTo"} xref: UMLS:C0011269 {source="DOID:8725", source="MONDO:equivalentTo", source="NCIT:C34525"} is_a: EFO:0003763 {source="MESH:D015140", source="MESH:D015140/inferred"} ! cerebrovascular disorder is_a: MONDO:0001627 {source="DOID:8725", source="MESH:D015140", source="NCIT:C34525"} ! dementia relationship: EFO:0000784 UBERON:0003499 ! has_disease_location brain blood vessel property_value: definition:citation "D015140" xsd:string property_value: exactMatch DOID:8725 property_value: exactMatch http://identifiers.org/mesh/D015140 property_value: exactMatch http://identifiers.org/snomedct/429998004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011269 property_value: exactMatch NCIT:C34525 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004719 name: pemphigus vulgaris def: "An autoimmune blistering disorder. It is characterized by the presence of painful blisters and erosions in the skin and mucous membranes." [] def: "Pemphigus is a group of chronic autoimmune skin diseases characterized by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterized, of which pemphigus vulgaris is the most frequent (75%)." [Orphanet:704] def: "Pemphigus vulgaris is a rare chronic blistering skin disease and the most common form of pemphigus." [] comment: Editor note: check familial vs acquired subset: gard_rare subset: ordo_disease {source="Orphanet:704"} synonym: "familial pemphigus vulgaris" EXACT [DOID:0060851] synonym: "pemphigus vulgaris" EXACT [] {comment="preferred label from MONDO"} synonym: "pemphigus vulgaris, familial" RELATED [OMIM:169610] synonym: "PV" EXACT [] xref: DOID:0060851 {source="MONDO:equivalentTo"} xref: ICD10CM:L10.0 {source="DOID:0060851", source="MONDO:equivalentTo", source="Orphanet:704", source="Orphanet:704/e"} xref: MedDRA:10052802 {source="Orphanet:704", source="Orphanet:704/e"} xref: MESH:C536645 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: MONDO:0008219 xref: NCIT:C34910 {source="MONDO:equivalentTo", source="EFO:0004719"} xref: NCIt:C34910 xref: OMIM:169610 {source="DOID:0060851", source="MONDO:equivalentTo", source="Orphanet:704", source="GARD:0004270", source="Orphanet:704/btnt"} xref: Orphanet:704 {source="DOID:0060851", source="MONDO:equivalentTo", source="GARD:0004270", source="OMIM:169610"} xref: SCTID:49420001 {source="MONDO:equivalentTo", source="EFO:0004719"} xref: SNOMEDCT:49420001 xref: UMLS:C0030809 {source="DOID:0060851", source="MONDO:equivalentTo", source="Orphanet:704", source="NCIT:C34910", source="Orphanet:704/e"} xref: Wikipedia:Pemphigus_vulgaris is_a: EFO:1000749 {source="DOID:0060851", source="EFO:0004719", source="ICD10CM:L10.0", source="NCIT:C34910"} ! pemphigus property_value: closeMatch http://identifiers.org/meddra/10052802 property_value: definition:citation http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Pemphigus_Vulgaris xsd:string property_value: exactMatch DOID:0060851 property_value: exactMatch http://identifiers.org/mesh/C536645 property_value: exactMatch http://identifiers.org/snomedct/49420001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030809 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L10.0 property_value: exactMatch https://omim.org/entry/169610 property_value: exactMatch NCIT:C34910 property_value: exactMatch Orphanet:704 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004720 name: prion disease def: "A group of genetic, infectious, or sporadic degenerative human and animal nervous system disorders associated with abnormal PRIONS. These diseases are characterized by conversion of the normal prion protein to an abnormal configuration via a post-translational process. In humans, these conditions generally feature DEMENTIA; ATAXIA; and a fatal outcome. Pathologic features include a spongiform encephalopathy without evidence of inflammation. The older literature occasionally refers to these as unconventional SLOW VIRUS DISEASES. (From Proc Natl Acad Sci USA 1998 Nov 10;95(23):13363-83)" [] def: "A transmissible disease that is caused by a protein that is able to induce abnormal folding of normal cellular proteins, leading to characteristic spongiform brain changes, which are associated with neuronal loss without an inflammatory response. Such disorders have typically long incubation periods, but are then generally rapidly progressive and are uniformly fatal." [NCIT:C128346-modified] comment: Editor note: check relationship to spongiform encephalopathy NCIT:C27585 synonym: "prion disease" EXACT [] {comment="preferred label from MONDO"} synonym: "prion disease pathway" EXACT [DOID:649, NCIT:C38853] synonym: "prion induced disorder" EXACT [DOID:649] synonym: "prion protein disease" EXACT [DOID:649] synonym: "spongiform encephalopathy" EXACT [DOID:649, NCIT:C27585] xref: DOID:649 {source="EFO:0004720", source="MONDO:equivalentTo"} xref: ICD9:046.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10079301 xref: MedDRA:10080750 xref: MESH:D017096 {source="MONDO:equivalentTo", source="DOID:649"} xref: MONDO:0005429 xref: NCIT:C128346 {source="MONDO:equivalentTo"} xref: OMIM:245300 xref: OMIM:606688 xref: SCTID:230284004 {source="MONDO:equivalentTo", source="DOID:649"} xref: SNOMEDCT:20484008 is_a: EFO:0005774 {source="DOID:649"} ! brain disease is_a: EFO:1001456 {source="MESH:D017096", source="NCIT:C128346"} ! central nervous system infection property_value: definition:citation "D017096" xsd:string property_value: exactMatch DOID:649 property_value: exactMatch http://identifiers.org/mesh/D017096 property_value: exactMatch http://identifiers.org/snomedct/230284004 property_value: exactMatch NCIT:C128346 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004721 name: obsolete_Gaucher disease def: "Gaucher's disease" [] def: "Gaucher's disease is a genetic disease in which lipid accumulates in cells and certain organs. Gaucher's disease is the most common of the lysosomal storage diseases It is a form of sphingolipidosis (a subgroup of lysosomal storage diseases), as it involves dysfunctional metabolism of sphingolipids. The disorder is characterized by bruising, fatigue, anemia, low blood platelets, and enlargement of the liver and spleen. It is caused by a hereditary deficiency of the enzyme glucosylceramidase. The enzyme acts on the fatty acid glucosylceramide. When the enzyme is defective, glucosylceramide accumulates, particularly in white blood cells, most often macrophages (mononuclear leukocytes). Glucosylceramidase can collect in the spleen, liver, kidneys, lungs, brain and bone marrow.\nSymptoms may include enlarged spleen and liver, liver malfunction, skeletal disorders and bone lesions that may be painful, severe neurologic complications, swelling of lymph nodes and (occasionally) adjacent joints, distended abdomen, a brownish tint to the skin, anemia, low blood platelets and yellow fatty deposits on the white of the eye (sclera). Persons affected most seriously may also be more susceptible to infection. Some forms of Gaucher's disease may be treated with enzyme replacement therapy.\nThe disease is caused by a recessive mutation in a gene located on chromosome 1 and affects both males and females. About 1 in 100 people in the United States are carriers of the most common type of Gaucher disease. The carrier rate among Ashkenazi Jews is 8.9% while the birth incidence is 1 in 450" [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_355' instead.\nNew Label : Gaucher disease" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_355 [Term] id: EFO:0004723 name: coronary artery calcification def: "Calcification of the coronary artery, used as a measure of coronary atherosclerosis, a risk factor for myocardial infarction." [] xref: MedDRA:10064747 is_a: HP:0001626 ! Abnormality of the cardiovascular system relationship: RO:0002314 UBERON:0001621 ! inheres in part of coronary artery property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004724 name: carotid-femoral pulse wave velocity def: "Carotid-femoral pulse wave velocity (CFPWV) is a heritable measure of aortic stiffness that is strongly associated with increased risk for major cardiovascular disease events." [] is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease relationship: IAO:0000136 UBERON:0004535 ! is_about cardiovascular system property_value: definition:citation https://www.google.com/calendar/render?tab=mc xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004725 name: metabolite measurement def: "The quantification of some metabolite." [] def: "This is an annotation class for metabolite measurements where the exact metabolite measurements are unknown. Do not annotate to this class." [] synonym: "metabolite levels" EXACT [] synonym: "metabolite traits" EXACT [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004727 name: obsolete_metabolite def: "Any intermediate or product resulting from metabolism." [] xref: NCIt:C61154 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.48.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication.\n\nUse: http://purl.obolibrary.org/obo/CHEBI_25212" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/CHEBI_25212 [Term] id: EFO:0004728 name: serum amyloid A protein measurement def: "Is the quantification of serum amyloid A protein in serum and is a family of apolipoproteins associated with high-density lipoprotein (HDL) in plasma. Different isoforms of SAA are expressed constitutively (constitutive SAAs) at different levels or in response to inflammatory stimuli (acute phase SAAs)." [] is_a: EFO:0004732 ! lipoprotein measurement is_a: EFO:0004813 ! alpha globulin measurement is_a: EFO:0004872 ! inflammatory biomarker measurement relationship: IAO:0000136 EFO:0003836 ! is_about lipoprotein relationship: IAO:0000136 GO:0006954 ! is_about inflammatory response relationship: IAO:0000136 MONDO:0004992 ! is_about cancer property_value: definition:citation http://en.wikipedia.org/wiki/Amyloid_A xsd:string property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/22593464 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004729 name: vitamin measurement def: "The quantification of some vitamin, typically from a body fluid such as blood. A vitamin is an organic compound required by an organism as a vital nutrient in limited amounts. An organic chemical compound (or related set of compounds) is called a vitamin when it cannot be synthesized in sufficient quantities by an organism, and must be obtained from the diet." [] synonym: "vitamin levels" EXACT [] xref: NCIt:C74803 xref: SNOMEDCT:122446006 is_a: EFO:0001444 ! measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 CHEBI:33229 ! is_about vitamin (role) property_value: definition:citation http://en.wikipedia.org/wiki/Vitamin xsd:string property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004730 name: hormone measurement def: "The determination of the amount of hormone present in a sample." [] xref: NCIt:C74742 xref: SNOMEDCT:122445005 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004731 name: eye measurement def: "Is a quantification of some eye structure or property of an eye structure, such as corneal thickness." [] is_a: EFO:0001444 ! measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 UBERON:0000970 ! is_about eye property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004732 name: lipoprotein measurement def: "Is the quantification of some lipoprotein" [] is_a: EFO:0004747 ! protein measurement is_a: EFO:0005105 ! lipid or lipoprotein measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 EFO:0003836 ! is_about lipoprotein property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004733 name: anti-cyclic citrullinated peptide antibody measurement def: "Is a quantification of anti-cyclic citrullinated peptide antibody, these are associated with rheumatoid arthritis." [] is_a: EFO:0004556 ! antibody measurement is_a: EFO:0004747 ! protein measurement is_a: EFO:0006846 ! autoimmune disease biomarker relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 EFO:0000264 ! is_about antibody property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004735 name: serum alanine aminotransferase measurement def: "Is a quantification of serum alanine aminotransferase, most commonly found in liver, the test is used in ascertainment of liver function." [] synonym: "alanine aminotransferase measurement" EXACT [] synonym: "alanine transaminase measurement" EXACT [] xref: NCIt:C61017 xref: SNOMEDCT:34608000 is_a: EFO:0004582 ! liver enzyme measurement is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 EFO:0001421 ! is_about liver disease relationship: IAO:0000136 OBI:0000427 ! is_about enzyme relationship: IAO:0000136 UBERON:0002107 ! is_about liver property_value: definition:citation http://labtestsonline.org.uk/understanding/analytes/alt/tab/test/ xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004736 name: aspartate aminotransferase measurement def: "Is a quantification of aspartate aminotransferase, and is commonly used as a marker for liver function." [] synonym: "Aspartate transaminase measurement" EXACT [] xref: NCIt:C64467 xref: SNOMEDCT:45896001 is_a: EFO:0004582 ! liver enzyme measurement is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 EFO:0001421 ! is_about liver disease relationship: IAO:0000136 OBI:0000427 ! is_about enzyme relationship: IAO:0000136 UBERON:0002107 ! is_about liver property_value: definition:citation http://en.wikipedia.org/wiki/Aspartate_transaminase xsd:string property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004737 name: carotenoid measurement def: "Is a quantification of some carotenoid, typically in blood. These are lipid based compounds derived from chloroplasts and chromoplasts of plants and some other photosynthetic organisms. Consumption of a diet rich in carotenoids is reported to have health benefits for human populations." [] is_a: EFO:0001444 ! measurement property_value: definition:citation http://en.wikipedia.org/wiki/Carotenoid xsd:string property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004738 name: tocopherol measurement def: "Is a quantification of some tocopherol, typically in blood. Some tocopherols have Vitamin E function (note that tocotrienols also have vitamin E function)." [] is_a: EFO:0004867 ! vitamin E measurement relationship: IAO:0000136 CHEBI:33229 ! is_about vitamin (role) property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004739 name: circulating cell free DNA measurement def: "Is a quantification of circulating cell free DNA measured in blood used as an indicator of cell death and as an indicator of disease, for example some tumour types release this." [] synonym: "circulating cell free DNA level" EXACT [] synonym: "circulating cell free DNA levels" EXACT [] is_a: EFO:0005127 ! cancer biomarker measurement relationship: IAO:0000136 CHEBI:16991 ! is_about deoxyribonucleic acid property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/21990379 xsd:string property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/22511988 xsd:string property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/24553385 xsd:string property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004741 name: blood urea nitrogen measurement def: "Is a quantification of blood urea nitrogen used in the measure of renal function." [] xref: NCIt:C61019 xref: SNOMEDCT:105011006 is_a: EFO:0009795 ! serum urea measurement relationship: IAO:0000136 EFO:0003086 ! is_about kidney disease relationship: IAO:0000136 UBERON:0001008 ! is_about renal system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004742 name: renal system measurement def: "Is a quantification of some renal system biomarker" [] is_a: EFO:0001444 ! measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 UBERON:0001008 ! is_about renal system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004743 name: facial morphology def: "Any measurable or observable characteristic related to the shape, structure, color or pattern of the region of the body that includes the front part of the head from the chin to the top of the forehead, where the mouth, eyes, nose, and other features are located." [] is_a: EFO:0000651 ! phenotype property_value: definition:citation http://purl.obolibrary.org/obo/VT_0003743 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004744 name: matrix metalloproteinase measurement def: "Is a quantification of matrix metalloproteinases, Collectively, they are capable of degrading all kinds of extracellular matrix proteins, but also can process a number of bioactive molecules. They are known to be involved in the cleavage of cell surface receptors, the release of apoptotic ligands (such as the FAS ligand), and chemokine/cytokine in/activation.[3] MMPs are also thought to play a major role on cell behaviors such as cell proliferation, migration (adhesion/dispersion), differentiation, angiogenesis, apoptosis, and host defense." [] is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein property_value: definition:citation http://en.wikipedia.org/wiki/Matrix_metalloproteinase xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004745 name: NT-proBNP measurement def: "Is a quantification of NT-proBNP (N-terminal prohormone of brain natriuretic peptide) which is associated with acute congestive heart failure." [] is_a: EFO:0004747 ! protein measurement is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease property_value: definition:citation http://en.wikipedia.org/wiki/NT-proBNP xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004746 name: lipoprotein-associated phospholipase A(2) measurement def: "Is a quantification of Lipoprotein-associated phospholipase A(2). It is involved in the process of arthrosclerosis and is a cardiovascular disease biomarker." [] synonym: "Lipoprotein-associated phospholipase A(2) level" EXACT [] synonym: "Lipoprotein-associated phospholipase A(2) levels" EXACT [] is_a: EFO:0004732 ! lipoprotein measurement is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease relationship: IAO:0000136 EFO:0003836 ! is_about lipoprotein relationship: IAO:0000136 OBI:0000427 ! is_about enzyme relationship: IAO:0000136 UBERON:0004535 ! is_about cardiovascular system property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/20442857 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004747 name: protein measurement def: "Is a quantification of some protein, typically obtained from an individual with the intention of using the measurement in some diagnostic process." [] def: "This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." [] synonym: "protein levels" EXACT [] xref: SNOMEDCT:74040009 is_a: EFO:0001444 ! measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 CHEBI:36080 ! is_about protein property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004748 name: thyroid stimulating hormone measurement def: "Is a quantification of thyroid-stimulating hormone, a glycoprotein and hormone secreted from the pituitary which regulates the thryoid." [] synonym: "thyroid stimulating hormone level" EXACT [] synonym: "thyroid stimulating hormone levels" EXACT [] synonym: "thyrotropin measurement" EXACT [] xref: NCIt:C64813 xref: SNOMEDCT:61167004 is_a: EFO:0004730 ! hormone measurement is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 CHEBI:24621 ! is_about hormone relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 UBERON:0002046 ! is_about thyroid gland property_value: definition:citation http://en.wikipedia.org/wiki/Thyrotropin xsd:string property_value: definition:citation http://labtestsonline.org.uk/understanding/analytes/tsh/tab/test/ xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004749 name: CCL2 measurement def: "Is the quantification of Chemokine (C-C motif) ligand 2, involved in response to infection and inflammation. Chemotactic factor that attracts monocytes and basophils but not neutrophils or eosinophils. Augments monocyte anti-tumor activity. Has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, like psoriasis, rheumatoid arthritis or atherosclerosis. May be involved in the recruitment of monocytes into the arterial wall during the disease process of atherosclerosis.\nCCL2 is reported to be associated with Alzheimer's disease e.g. http://www.ncbi.nlm.nih.gov/pubmed/22303443 and http://europepmc.org/abstract/MED/25340798" [] synonym: "chemokine CCL2 level" EXACT [] synonym: "chemokine CCL2 levels" EXACT [] synonym: "MCP-1 measurement" EXACT [] synonym: "MCP1 measurement" EXACT [] synonym: "monocyte chemoattractant protein-1 measurement" EXACT [] synonym: "monocyte chemotactic protein-1 level" EXACT [] synonym: "monocyte chemotactic protein-1 levels" EXACT [] synonym: "monocyte chemotactic protein-1 measurement" EXACT [] is_a: EFO:0004873 ! cytokine measurement is_a: EFO:0006514 ! Alzheimer's disease biomarker measurement relationship: IAO:0000136 EFO:0003786 ! is_about cytokine relationship: IAO:0000136 MONDO:0004975 ! is_about Alzheimer disease property_value: definition:citation http://en.wikipedia.org/wiki/CCL2 xsd:string property_value: definition:citation http://www.uniprot.org/uniprot/P13500 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004750 name: interleukin 10 measurement def: "interleukin 10 levels" [] def: "Is a quantification of interleukin 10, typically in blood. Inhibits the synthesis of a number of cytokines, including IFN-gamma, IL-2, IL-3, TNF and GM-CSF produced by activated macrophages and by helper T-cells." [] xref: NCIt:C74806 is_a: EFO:0004872 ! inflammatory biomarker measurement is_a: EFO:0004873 ! cytokine measurement relationship: IAO:0000136 EFO:0003786 ! is_about cytokine relationship: IAO:0000136 EFO:0004100 ! is_about interleukin relationship: IAO:0000136 GO:0006954 ! is_about inflammatory response property_value: definition:citation http://www.uniprot.org/uniprot/P22301 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004751 name: CCL4 measurement def: "Is the quantification of Chemokine (C-C motif) ligand 4, involved in response to infection and inflammation, chemoattractant for natural killer cells, monocytes and a variety of other immune cells." [] synonym: "Chemokine (C-C motif) ligand 4 level" EXACT [] synonym: "Chemokine (C-C motif) ligand 4 levels" EXACT [] synonym: "Chemokine (C-C motif) ligand 4 measurement" EXACT [] synonym: "macrophage inflammatory protein-1b" EXACT [] is_a: EFO:0004873 ! cytokine measurement relationship: IAO:0000136 EFO:0003786 ! is_about cytokine property_value: definition:citation http://en.wikipedia.org/wiki/CCL4 xsd:string property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004752 name: parathyroid hormone measurement def: "Is the quantification of parathyroid hormone, typically in blood. The protein encoded by this gene is a hormone secreted by parathyroid cells. This hormone elevates blood Ca2+ level by dissolving the salts in bone and preventing their renal excretion. Defects in this gene are a cause of familial isolated hypoparathyroidism (FIH) (RefSeq), High level s of parathyroid hormone are also used in the diagnostics for hypo and hyper calcemia, primary and secondary hyper parathyroidism. Low values are used in the diagnostics of hypoparathyroidism." [] xref: SNOMEDCT:3352000 is_a: EFO:0004730 ! hormone measurement relationship: IAO:0000136 CHEBI:24621 ! is_about hormone property_value: definition:citation http://www.acb.org.uk/Nat%20Lab%20Med%20Hbk/Parathyroid%20hormone.pdf xsd:string property_value: definition:citation http://www.ncbi.nlm.nih.gov/nuccore/NM_000315.2 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004753 name: interleukin 12 measurement def: "Is a quantification of interleukin 12. Interleukin 12 (IL-12) is an interleukin that is naturally produced by dendritic cells, macrophages and human B-lymphoblastoid cells (NC-37) in response to antigenic stimulation." [] xref: NCIt:C74808 is_a: EFO:0004873 ! cytokine measurement relationship: IAO:0000136 EFO:0003786 ! is_about cytokine relationship: IAO:0000136 EFO:0004100 ! is_about interleukin property_value: definition:citation http://en.wikipedia.org/wiki/Interleukin_12 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004754 name: interleukin 1 receptor antagonist measurement def: "Is a quantification of Interleukin 1 Receptor Antagonist (IL1-RA). Inhibits the activity of interleukin-1 by binding to receptor IL1R1 and preventing its association with the coreceptor IL1RAP for signaling. Has no interleukin-1 like activity. Binds functional interleukin-1 receptor IL1R1 with greater affinity than decoy receptor IL1R2; however, the physiological relevance of the latter association is unsure" [] xref: NCIt:C112324 is_a: EFO:0004872 ! inflammatory biomarker measurement is_a: EFO:0004873 ! cytokine measurement relationship: IAO:0000136 EFO:0003786 ! is_about cytokine relationship: IAO:0000136 GO:0006954 ! is_about inflammatory response property_value: definition:citation http://www.uniprot.org/uniprot/P18510 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004760 name: t-tau measurement def: "Is a quantification of total tau protein, a biomarker for Alzheimer's disease." [] is_a: EFO:0004747 ! protein measurement is_a: EFO:0006514 ! Alzheimer's disease biomarker measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 MONDO:0004975 ! is_about Alzheimer disease relationship: IAO:0000136 UBERON:0001017 ! is_about central nervous system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004761 name: uric acid measurement def: "Is a quantification of uric acid, typically in blood. Uric acid is associated with gout, insulin resistance and cardivascular disease." [] synonym: "uric acid level" EXACT [] synonym: "uric acid levels" EXACT [] xref: SNOMEDCT:86228006 is_a: EFO:0004298 ! cardiovascular measurement is_a: EFO:0004742 ! renal system measurement relationship: IAO:0000136 CHEBI:27226 ! is_about uric acid relationship: IAO:0000136 EFO:0002614 ! is_about insulin resistance relationship: IAO:0000136 UBERON:0001008 ! is_about renal system relationship: IAO:0000136 UBERON:0004535 ! is_about cardiovascular system property_value: definition:citation http://labtestsonline.org.uk/understanding/analytes/uric-acid/tab/test xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004762 name: vascular endothelial growth factor measurement def: "Is a quantification of VEGF, a growth factor involved in angiogenesis and a biomarker for cancer." [] xref: NCIt:C92514 is_a: EFO:0005127 ! cancer biomarker measurement is_a: EFO:0006900 ! endothelial growth factor measurement relationship: IAO:0000136 EFO:0003276 ! is_about vascular endothelial growth factor property_value: definition:citation http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2813747/ xsd:string property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004763 name: p-tau measurement def: "Is a quantification of phosphorylated tau protein, used as a biomarker for Alzheimer's disease." [] is_a: EFO:0004747 ! protein measurement is_a: EFO:0006514 ! Alzheimer's disease biomarker measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 MONDO:0004975 ! is_about Alzheimer disease relationship: IAO:0000136 UBERON:0001017 ! is_about central nervous system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004764 name: adipose tissue measurement def: "Is a quantification of some aspect of adipose tissue, for example used in the diagnosis and research into obesity." [] is_a: EFO:0004302 ! anthropometric measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 UBERON:0001013 ! is_about adipose tissue property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004765 name: visceral adipose tissue measurement def: "Is a quantification of a particular location of adipose tissue." [] is_a: EFO:0004764 ! adipose tissue measurement relationship: IAO:0000136 UBERON:0001013 ! is_about adipose tissue property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004766 name: subcutaneous adipose tissue measurement def: "Is a quantification of adipose tissue located beneath the skin." [] is_a: EFO:0004764 ! adipose tissue measurement relationship: IAO:0000136 UBERON:0002190 ! is_about subcutaneous adipose tissue property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004767 name: visceral:subcutaneous adipose tissue ratio def: "Is a quantification of visceral to subcutaneous adipose tissue." [] is_a: EFO:0004764 ! adipose tissue measurement relationship: IAO:0000136 UBERON:0001013 ! is_about adipose tissue property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004768 name: follicle stimulating hormone measurement def: "Is a quantification of follicle stimulating hormone. ollicle-stimulating hormone (FSH) is a hormone found in humans and other animals. It is synthesized and secreted by gonadotrophs of the anterior pituitary gland. FSH regulates the development, growth, pubertal maturation, and reproductive processes of the body. FSH and luteinizing hormone (LH) act synergistically in reproduction. Specifically, an increase in FSH secretion by the anterior pituitary causes ovulation. FSH measurements are used as a biomarker of oocyte reserve." [] synonym: "follicle stimulating hormone level" EXACT [] synonym: "follicle stimulating hormone levels" EXACT [] synonym: "FSH level" EXACT [] synonym: "FSH levels" EXACT [] xref: NCIt:C74783 xref: SNOMEDCT:31003009 is_a: EFO:0004730 ! hormone measurement is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 CHEBI:24621 ! is_about hormone relationship: IAO:0000136 EFO:0003234 ! is_about follicle stimulating hormone relationship: IAO:0000136 EFO:0004770 ! is_about ovarian reserve relationship: IAO:0000136 UBERON:0000474 ! is_about female reproductive system relationship: IAO:0000136 UBERON:0000474 ! is_about female reproductive system property_value: definition:citation http://en.wikipedia.org/wiki/Follicle-stimulating_hormone xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004769 name: anti-Mullerian hormone measurement def: "Is a quantification of anti_Mullerian hormone, and is used as a biomarker of ovarian reserve. The AMH is produced by the granulosa cells of the early developing antral follicles. These are the immature eggs that wake up from their dormant state and develop into mature eggs. As the number of oocytes decline, the number of small antral follicles decline in number and the serum Anti-Mullerian hormone level falls." [] synonym: "anti-Mullerian hormone level" EXACT [] synonym: "anti-Mullerian hormone levels" EXACT [] xref: NCIt:C120625 is_a: EFO:0004730 ! hormone measurement is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 CHEBI:24621 ! is_about hormone relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 EFO:0004770 ! is_about ovarian reserve relationship: IAO:0000136 UBERON:0000474 ! is_about female reproductive system property_value: definition:citation http://www.repromed.com.au/custom/files/AMH%20Information%20Sheet%20for%20Doctors%203.4.09.pdf xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004770 name: ovarian reserve def: "Ovarian reserve is a term that is used to determine the capacity of the ovary to provide oocytes that are capable of fertilization resulting in a healthy and successful pregnancy. Ovarian reserve is correlated with levels of FSH and anti-Mullerian hormones." [] xref: MeSH:D065851 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 UBERON:0000474 ! is_about female reproductive system property_value: definition:citation http://en.wikipedia.org/wiki/Ovarian_reserve xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004771 name: visual cortical surface area measurement def: "quantification of the surface area of the visual cortex. The visual cortex is located in the occipital lobe at the back of the brain. It is variable and heritable, and is correlated with visual acuity and visual perception." [] xref: PMID:22343285 is_a: EFO:0010736 ! cortical surface area measurement relationship: IAO:0000136 UBERON:0000411 ! is_about visual cortex relationship: IAO:0000136 UBERON:0001017 ! is_about central nervous system property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004772 name: early onset hypertension def: "A form of hypertension with early onset relative to normal range for a given population." [EFO:0004772] synonym: "early onset hypertension" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0005430 is_a: EFO:0000537 {source="EFO:0004772"} ! hypertension property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004774 name: chewing tobacco behavior def: "Mastication of tobacco, correlated with an increased risk of oral cancers." [] is_a: GO:0007610 ! behavior property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004775 name: toxic epidermal necrolysis def: "An exfoliative disease of skin seen primarily in adults and characterized by flaccid bullae and spreading erythema so that the skin has the appearance of being scalded. It results primarily from a toxic reaction to various drugs, but occasionally occurs as a result of infection, neoplastic conditions, or other exposure." [] def: "Toxic epidermal necrolysis (TEN) is an acute and severe skin disease with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes." [Orphanet:95455] subset: gard_rare {source="GARD:0007743"} subset: ordo_disease {source="Orphanet:95455"} synonym: "Lyell syndrome" NARROW [NCIT:C79777] synonym: "Lyell's syndrome" NARROW [NCIT:C79777] synonym: "SJS-TEN" EXACT [Orphanet:95455] synonym: "Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum" RELATED [Orphanet:95455] synonym: "TEN" EXACT ABBREVIATION [NCIT:C79777] synonym: "toxic epidermal necrolysis" EXACT [] {comment="preferred label from MONDO"} synonym: "toxic epidermolysis" EXACT [Orphanet:95455] xref: ICD9:695.15 {source="EFO:0004775", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10043221 xref: MedDRA:10044223 {source="Orphanet:95455", source="Orphanet:95455/e"} xref: MONDO:0019810 xref: NCIT:C79777 {source="EFO:0004775", source="MONDO:equivalentTo"} xref: NCIt:C79777 xref: Orphanet:95455 {source="MONDO:equivalentTo"} xref: SCTID:23067006 {source="MONDO:equivalentTo"} xref: UMLS:C0014518 {source="Orphanet:95455", source="MONDO:equivalentTo", source="NCIT:C79777", source="Orphanet:95455/e"} is_a: EFO:0006346 ! severe cutaneous adverse reaction is_a: MONDO:0017396 {source="Orphanet:95455"} ! toxic dermatosis relationship: EFO:0000784 UBERON:0000014 ! has_disease_location zone of skin property_value: closeMatch http://identifiers.org/meddra/10044223 property_value: exactMatch http://identifiers.org/snomedct/23067006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014518 property_value: exactMatch NCIT:C79777 property_value: exactMatch Orphanet:95455 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7743/toxic-epidermal-necrolysis xsd:anyURI {source="GARD:0007743"} [Term] id: EFO:0004776 name: alcohol and nicotine codependence def: "A drug dependence that is the physiological result of being addicted to alcohol and nicotine." [EFO:0004776] synonym: "alcohol and nicotine codependence" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0005432 is_a: EFO:0003890 {source="EFO:0004776"} ! drug dependence property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/22488850 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004777 name: alcohol withdrawal synonym: "alcohol withdrawal" EXACT [] {comment="preferred label from MONDO"} synonym: "alcohol withdrawal syndrome" EXACT [] xref: ICD9:291.81 {source="MONDO:equivalentTo", source="EFO:0004777", source="MONDO:i2s"} xref: MONDO:0005433 xref: SCTID:191480000 {source="MONDO:equivalentTo", source="EFO:0004777"} xref: SNOMEDCT:191480000 xref: UMLS:C0236663 {source="MONDO:equivalentTo"} is_a: EFO:0003890 ! drug dependence is_a: EFO:0005800 {source="MONDO:cjm"} ! substance withdrawal syndrome property_value: definition:citation http://purl.obolibrary.org/obo/DOID_13843 xsd:string property_value: exactMatch http://identifiers.org/snomedct/191480000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0236663 property_value: excluded_subClassOf MONDO:0005303 {source="EFO:0004777"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004778 name: self rated health def: "The process of questioning an individual, usually by means of a survey to determine general health." [] synonym: "self reported health" EXACT [] is_a: EFO:0004542 ! planned process property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004779 name: CHAOS measure def: "The CHAOS (Confusion, Hubbub and Order) scale is a questionnaire filled out by parents that is designed to assess the level of confusion and disorganization in the child’s home environment." [] synonym: "CHAOS score" EXACT [] is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder property_value: definition:citation "CHAOS scale" xsd:string property_value: definition:citation http://www.acf.hhs.gov/programs/opre/ehs/perf_measures/reports/resources_measuring/res_meas_phih.html xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004780 name: DSM-IV-based social scale is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder relationship: IAO:0000136 GO:0007610 ! is_about behavior property_value: definition:citation "A measure of social behaviour used in behavioral studies to examine autistic like traits." xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004781 name: DSM-IV-based non-social scale def: "A measure of non social behaviour used in behavioral studies to examine autistic like traits." [] is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder property_value: definition:citation http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2797846/? xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004782 name: behavior or behavioral disorder measurement def: "Measurements used to quantify, or assess individual or population behaviour or disorderd behaviours, e.g. by adminsistration of a questionaire." [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004783 name: TEMPS-A questionnaire def: "Temperament Evaluation of Memphis, Pisa, Paris, and San Diego Autoquestionnaire (TEMPS-A). The TEMPS-A is designed to assess lifelong, milder aspects of bipolar symptomatology and defines five temperaments: hyperthymic, dysthymic, cyclothymic, irritable, and anxious." [] is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder relationship: IAO:0000136 GO:0007610 ! is_about behavior property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/22365631 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004784 name: self reported educational attainment def: "A measure of educational progress reported using a questionnaire based approach, often used as a proxy for cognitive performance as the two are correlated." [] is_a: EFO:0011015 ! educational attainment property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004785 name: South Texas Assessment of Neurocognition def: "The South Texas Assessment of Neurocognition (STAN) is a 90-min primarily computerized battery of standard and experimental neuropsychological tests. The STAN combines software developed for psychological experimentation (E-Prime) and database software (Microsoft ACCESS) with a user interface developed in visual basic to provide a fully automated testing environment which logs subject information, administers tests in a pre-defined order and databases subject performance at the completion of each test." [] is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder property_value: definition:citation http://www.glahngroup.org/research/neuropsychology/ xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004786 name: Mini-International Neuropsychiatric Interview def: "The Mini-international neuropsychiatric interview is a short structured clinical interview which enables researchers to make diagnoses of psychiatric disorders according to DSM-IV (Diagnostic and Statistical Manual of Mental Disorders) or ICD-10. The administration time of the interview is approximately 15 minutes and was designed for epidemiological studies and multicenter clinical trials." [] is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder property_value: definition:citation http://en.wikipedia.org/wiki/Mini-international_neuropsychiatric_interview xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004789 name: atrial natriuretic factor measurement def: "Is a quantification of the 126-amino acid C-terminal fragment of the ANP precursor, an approximately 150-amino acid polypeptide in a number of species. It is formed by the removal of the N-terminal signal sequence ANP (1-24). This prohormone contains various active ANF sequences.\nANF is is a powerful vasodilator, and a protein (polypeptide) hormone secreted by heart muscle cells.[1][2][3] It is involved in the homeostatic control of body water, sodium, potassium and fat (adipose tissue). Increased levels of ANP are associated with heart failure." [] comment: is about MeSH:D017461 is_a: EFO:0004730 ! hormone measurement is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 CHEBI:24621 ! is_about hormone relationship: IAO:0000136 EFO:0003144 ! is_about heart failure relationship: IAO:0000136 UBERON:0004535 ! is_about cardiovascular system property_value: definition:citation http://en.wikipedia.org/wiki/Atrial_natriuretic_factor xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004790 name: CD40 ligand measurement def: "Is a quantification of CD40 ligand, primarily expressed on activated CD4+ T lymphocytes. Protein function - mediates B-cell proliferation in the absence of co-stimulus as well as IgE production in the presence of IL-4. Involved in immunoglobulin class switching.1 Publication\nRelease of soluble CD40L from platelets is partially regulated by GP IIb/IIIa, actin polymerization, and an matrix metalloproteinases (MMP) inhibitor-sensitive pathway." [] synonym: "CD154 ligand measurement" EXACT [] xref: NCIt:C82007 is_a: EFO:0004872 ! inflammatory biomarker measurement relationship: IAO:0000136 GO:0006954 ! is_about inflammatory response property_value: definition:citation "D023201" xsd:string property_value: definition:citation http://en.wikipedia.org/wiki/CD40_ligand xsd:string property_value: definition:citation http://www.uniprot.org/uniprot/P29965 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004791 name: tissue plasminogen activator measurement def: "Is a quantification of tissue plasminogen activator, an enzyme which converts the abundant, but inactive, zymogen plasminogen to plasmin by hydrolyzing a single Arg-Val bond in plasminogen. By controlling plasmin-mediated proteolysis, it plays an important role in tissue remodeling and degradation, in cell migration and many other physiopathological events. Play a direct role in facilitating neuronal migration." [] is_a: EFO:0004747 ! protein measurement is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 EFO:0000612 ! is_about myocardial infarction property_value: definition:citation http://europepmc.org/abstract/MED/24578379 xsd:string property_value: definition:citation http://www.uniprot.org/uniprot/P00750 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004792 name: plasminogen activator inhibitor 1 measurement def: "Is a quantification of plasminogen activator inhibitor 1 a serine protease inhibitor. This inhibitor acts as 'bait' for tissue plasminogen activator, urokinase, protein C and matriptase-3/TMPRSS7. Its rapid interaction with PLAT may function as a major control point in the regulation of fibrinolysis" [] synonym: "PAI-1 measurement" EXACT [] synonym: "PAI1 measurement" EXACT [] is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein property_value: definition:citation http://www.uniprot.org/uniprot/P05121 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004795 name: skin sensitivity to sun def: "The response of human skin to sun exposure." [EFO:0004795] comment: Editor note: TODO https://github.com/EnvironmentOntology/envo/issues/587 synonym: "skin sensitivity to sun" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0005434 is_a: EFO:1000752 {source="EFO:0004795"} ! photosensitivity disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004796 name: obsolete_freckling def: "Development of pigmented spots on the skin due to accumulation of melanin resulting from exposure to sunlight" [] xref: HP:0001480 property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0003963 [Term] id: EFO:0004797 name: obsolete_Li-Fraumeni syndrome def: "Li-Fraumeni syndrome is a rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. MUTATION of the p53 tumor suppressor gene, a component of the DNA DAMAGE response pathway, apparently predisposes family members who inherit it to develop certain cancers. The spectrum of cancers in the syndrome was shown to include, in addition to BREAST CANCER and soft tissue sarcomas (SARCOMA); BRAIN TUMORS; OSTEOSARCOMA; LEUKEMIA; and ADRENOCORTICAL CARCINOMA." [] xref: MeSH:D016158 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_524' instead.\nNew Label : Li-Fraumeni syndrome" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_524 [Term] id: EFO:0004798 name: copy number variation def: "A quantification of a genomic variation that increases or decreases the copy number of a given region." [] is_a: EFO:0004554 ! genomic measurement relationship: IAO:0000136 EFO:0004420 ! is_about genome property_value: definition:citation http://purl.org/obo/owl/SO#SO_0001019 xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004799 name: cholelithiasis def: "Presence or formation of GALLSTONES in the BILIARY TRACT, usually in the gallbladder (CHOLECYSTOLITHIASIS) or the common bile duct (CHOLEDOCHOLITHIASIS)." [] def: "The presence of calculi in the gallbladder." [NCIT:C122822] synonym: "cholelithiasis" EXACT [] {comment="preferred label from MONDO"} synonym: "gallbladder disease 4" RELATED [MONDO:Lexical, OMIM:611465] synonym: "gallbladder disease type 4" EXACT [MONDORULE:1, OMIM:611465] synonym: "gallstones" BROAD [NCIT:C122822] synonym: "GBD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611465] xref: DOID:10211 {source="MONDO:equivalentTo", source="EFO:0004799"} xref: ICD10:K80 xref: ICD9:574 {source="EFO:0004799"} xref: ICD9:574.20 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:574.5 {source="DOID:10211"} xref: MedDRA:10008629 xref: MESH:D002769 {source="MONDO:equivalentTo", source="EFO:0004799"} xref: MeSH:D002769 xref: MONDO:0012672 xref: NCIT:C122822 {source="MONDO:equivalentTo"} xref: OMIM:611465 {source="MONDO:equivalentTo", source="EFO:0004799"} xref: SCTID:266474003 {source="MONDO:equivalentTo"} xref: UMLS:C0008350 {source="MONDO:equivalentTo"} xref: UMLS:C0947622 {source="MONDO:directSiblingOf", source="NCIT:C122822"} is_a: EFO:1000018 {source="EFO:0004799"} ! bladder disease is_a: MONDO:0700225 ! hereditary gallbladder disorder relationship: EFO:0000784 UBERON:0002110 ! has_disease_location gallbladder property_value: exactMatch DOID:10211 property_value: exactMatch http://identifiers.org/mesh/D002769 property_value: exactMatch http://identifiers.org/snomedct/266474003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008350 property_value: exactMatch https://omim.org/entry/611465 property_value: exactMatch NCIT:C122822 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004800 name: frontal theta oscillation measurement def: "Is a quantification of frontal theta event related oscillations, determined by target processing in an oddball paradigm." [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 UBERON:0001017 ! is_about central nervous system property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/22554406 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004802 name: family size def: "Is a quantification of family size, also used as a measure of male fertility." [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:0004803 ! is_about male fertility property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004803 name: male fertility def: "A fertility quality of inhering in a male by virtue of the bearer's disposition to initiate, sustain, or support reproduction." [] is_a: EFO:0000651 ! phenotype property_value: definition:citation http://purl.obolibrary.org/obo/PATO_0000277 xsd:string property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004804 name: birth rate def: "Is a quantification of birth rate, te ratio of live births in an area to the population of that area, expressed per 1000 people in the population per year. Also used as a measure of male fertility" [] xref: MeSH:D001723 xref: NCIt:C53345 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:0004803 ! is_about male fertility property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004805 name: formal thought disorder def: "Formal thought disorder (FTD), or disorganized speech, is one of the central signs of schizophrenia" [] is_a: HP:0000708 ! Atypical behavior property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/22648509 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004806 name: asbestos exposure measurement def: "Is a quantification of some asbestos exposure," [] is_a: EFO:0006841 ! respiratory disease biomarker is_a: EFO:0008360 ! environmental exposure measurement relationship: IAO:0000136 CHEBI:46661 ! is_about asbestos relationship: IAO:0000136 EFO:0003818 ! is_about lung disease property_value: definition:citation http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Asbestos_Exposure xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004807 name: short sleep def: "Is a quantification of sleep time in humans where average sleep time was less than five hours." [] is_a: EFO:0000719 ! temporal measurement is_a: EFO:0004870 ! sleep measurement property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/22322875 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004808 name: L lactate dehydrogenase measurement def: "Is a quantification of L lactate dehydrodgenase, typically measured in serum, used as a marker of tissue breakdown as LDH is abundant in red blood cells and can function as a marker for hemolysis" [] is_a: EFO:0004503 ! hematological measurement relationship: IAO:0000136 CL:0000081 ! is_about blood cell relationship: IAO:0000136 OBI:0000427 ! is_about enzyme property_value: definition:citation http://en.wikipedia.org/wiki/Lactate_dehydrogenase xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004809 name: fructose-bisphosphate aldolase measurement def: "Is a quantification of Fructose-Bisphosphate Aldolase,is an enzyme catalyzing a reversible reaction that splits the aldol, fructose 1,6-bisphosphate, into the triose phosphates dihydroxyacetone phosphate (DHAP) and glyceraldehyde 3-phosphate (GAP)." [] xref: SNOMEDCT:104670006 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 OBI:0000427 ! is_about enzyme property_value: definition:citation http://en.wikipedia.org/wiki/Fructose-bisphosphate_aldolase xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004810 name: interleukin-6 measurement def: "Is a quantification of interleukin-6, a pro-inflammatory and anti-inflammatory cytokine." [] synonym: "IL-6 level" EXACT [] synonym: "IL-6 levels" EXACT [] synonym: "IL-6 measurement" EXACT [] is_a: EFO:0004872 ! inflammatory biomarker measurement is_a: EFO:0004873 ! cytokine measurement relationship: IAO:0000136 EFO:0003786 ! is_about cytokine relationship: IAO:0000136 EFO:0004100 ! is_about interleukin relationship: IAO:0000136 GO:0006954 ! is_about inflammatory response property_value: definition:citation http://en.wikipedia.org/wiki/Interleukin-6 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004811 name: interleukin-8 measurement def: "Is a quantification of interleukin-8, is a chemokine produced by macrophages and other cell types such as epithelial cells. It is also synthesized by endothelial cells, which store IL-8 in their storage vesicles, the Weibel-Palade bodies. IL-8 is secreted and is an important mediator of the immune reaction in the innate immune system response." [] synonym: "IL-8 level" EXACT [] synonym: "IL-8 levels" EXACT [] synonym: "IL-8 measurement" EXACT [] is_a: EFO:0004872 ! inflammatory biomarker measurement is_a: EFO:0004873 ! cytokine measurement relationship: IAO:0000136 EFO:0003786 ! is_about cytokine relationship: IAO:0000136 EFO:0004100 ! is_about interleukin relationship: IAO:0000136 GO:0006954 ! is_about inflammatory response property_value: definition:citation http://en.wikipedia.org/wiki/Interleukin_8 xsd:string property_value: definition:citation http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2893518/ xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004812 name: interleukin-1 beta measurement def: "Is a quantification of interleukin-1 beta, an IL-1 cytokine family protein, secreted by macrophages and a mediator of inflammatory response." [] synonym: "interleukin 1 beta measurement" EXACT [] is_a: EFO:0004872 ! inflammatory biomarker measurement is_a: EFO:0004873 ! cytokine measurement relationship: IAO:0000136 EFO:0003786 ! is_about cytokine relationship: IAO:0000136 EFO:0003794 ! is_about interleukin-1 beta (Homo sapiens) relationship: IAO:0000136 GO:0006954 ! is_about inflammatory response property_value: definition:citation http://en.wikipedia.org/wiki/Interleukin-1_beta xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004813 name: alpha globulin measurement def: "Is a quantification of any of the alpha globulin class of proteins, typically in serum." [] comment: is about MeSH:D000510 comment: This is a container class for the alpha globulins, which will be child terms of it. E.g. haptoglobin, see also:\nα1-antitrypsin\nAlpha 1-antichymotrypsin\nOrosomucoid (acid glycoprotein)\nSerum amyloid A\nAlpha 1-lipoprotein\n[edit]Alpha 2 globulins\nHaptoglobin\nAlpha-2u globulin\nα2-macroglobulin\nCeruloplasmin\nThyroxine-binding globulin\nAlpha 2-antiplasmin\nProtein C\nAlpha 2-lipoprotein\nAngiotensinogen is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004814 name: interleukin-6 receptor measurement def: "Is a quantification of the IL-6 receptor (CD126), activation may lead to the regulation of the immune response, acute-phase reactions and hematopoiesis. Cytokine with a wide variety of biological functions. It is a potent inducer of the acute phase response. Plays an essential role in the final differentiation of B-cells into Ig-secreting cells Involved in lymphocyte and monocyte differentiation. Acts on B-cells, T-cells, hepatocytes, hematopoietic progenitor cells and cells of the CNS. Required for the generation of T(H)17 cells. Also acts as a myokine. It is discharged into the bloodstream after muscle contraction and acts to increase the breakdown of fats and to improve insulin resistance. It induces myeloma and plasmacytoma growth and induces nerve cells differentiation." [] is_a: EFO:0004872 ! inflammatory biomarker measurement is_a: EFO:0004873 ! cytokine measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 EFO:0003786 ! is_about cytokine relationship: IAO:0000136 GO:0006954 ! is_about inflammatory response property_value: definition:citation http://en.wikipedia.org/wiki/Interleukin-6_receptor xsd:string property_value: definition:citation http://www.uniprot.org/uniprot/P05231 xsd:string property_value: definition:citation http://www.uniprot.org/uniprot/P08887 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004815 name: alpha macroglobulin measurement def: "Is a quantification of alphamacroglobulins 1 and/or 2, glycoproteins with a molecular weight of approximately 620,000 to 680,000. Precipitation by electrophoresis is in the alpha region. They include alpha 1-macroglobulins and alpha 2-macroglobulins. These proteins exhibit trypsin-, chymotrypsin-, thrombin-, and plasmin-binding activity and function as hormonal transporters. Chronic kidney disease can result in the leakage of alphamacroglobulins into the blood." [] is_a: EFO:0004742 ! renal system measurement relationship: IAO:0000136 EFO:0003086 ! is_about kidney disease relationship: IAO:0000136 UBERON:0002113 ! is_about kidney property_value: definition:citation http://en.wikipedia.org/wiki/Alpha-macroglobulin xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004818 name: transforming growth factor beta measurement def: "Is a quantification of any of the TF1b isoforms, TGF-beta acts as an antiproliferative factor in normal epithelial cells and at early stages of oncogenesis." [] is_a: EFO:0004872 ! inflammatory biomarker measurement relationship: IAO:0000136 GO:0006954 ! is_about inflammatory response property_value: definition:citation http://en.wikipedia.org/wiki/Transforming_growth_factor_beta xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004819 name: resistin measurement def: "Is a quantification of resistin, a cytokine secreted by immune and epithelial cells in human and associated with obseity and type II diabetes by some studies" [] synonym: "resistin level" EXACT [] synonym: "resistin levels" EXACT [] xref: NCIt:C80205 is_a: EFO:0004873 ! cytokine measurement is_a: EFO:0006842 ! diabetes mellitus biomarker relationship: IAO:0000136 EFO:0003786 ! is_about cytokine property_value: definition:citation http://www.uniprot.org/uniprot/Q9HD89 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004820 name: sex ratio def: "The number of males per 100 females, usually counted for live births but sometimes applied at a later life stage" [] xref: MeSH:D012744 is_a: EFO:0004557 ! population measurement relationship: IAO:0000136 OBI:0000181 ! is_about population property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004823 name: perception of facial expression def: "The perception of facial expression" [] is_a: EFO:0003925 ! cognition property_value: definition:citation http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3410629/ xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004824 name: obsolete_behavior or behavioral disorder measurement def: "Measurements used to quantify, or assess human behaviour or disorderd behaviours." [] property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicated by 'mental or behavioral disorder measurement' (EFO_0004782)" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0004782 [Term] id: EFO:0004825 name: temperament and character inventory def: "An inventory for personality traits devised by Cloninger et al. Traits scored include:\nNovelty Seeking (NS)\nHarm Avoidance (HA)\nReward Dependence (RD)\nPersistence (PS)\nSelf-Directedness (SD)\nCooperativeness (CO)\nSelf-Transcendence (ST)" [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:0004365 ! is_about personality trait property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004826 name: anti-neutrophil antibody associated vasculitis def: "Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls." [EFO:0004826] synonym: "anti-neutrophil antibody associated vasculitis" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0005435 is_a: EFO:0005140 ! autoimmune disease is_a: EFO:0005809 {source="EFO:0004826"} ! type II hypersensitivity reaction disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004827 name: economic and social preference def: "Human economic and social preferences determined by application of a survey or questionnaire." [] is_a: BFO:0000019 ! quality property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004828 name: genetic variation def: "The genetic variation of individuals in a population." [] xref: MeSH:D014644 xref: NCIt:C17248 xref: SNOMEDCT:64195000 is_a: EFO:0004554 ! genomic measurement is_a: EFO:0004557 ! population measurement relationship: IAO:0000136 EFO:0004420 ! is_about genome relationship: IAO:0000136 OBI:0000181 ! is_about population property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004829 name: response to irinotecan def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an irinotecan stimulus. Irinotecan prevents DNA from unwinding by inhibition of topoisomerase 1. In chemical terms, it is a semisynthetic analogue of the natural alkaloid camptothecin\nts main use is in colon cancer, in particular, in combination with other chemotherapy agents. This includes the regimen FOLFIRI, which consists of infusional 5-fluorouracil, leucovorin, and irinotecan." [] is_a: GO:0097327 ! response to antineoplastic agent property_value: definition:citation http://en.wikipedia.org/wiki/Irinotecan xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004830 name: caudate nucleus volume def: "The volume of the caudate nucleus, a brain structure implicated in many common neurological and psychiatric disorders" [] is_a: EFO:0006514 ! Alzheimer's disease biomarker measurement is_a: EFO:0006930 ! brain volume measurement relationship: IAO:0000136 EFO:0001715 ! is_about volume relationship: IAO:0000136 MONDO:0004975 ! is_about Alzheimer disease relationship: IAO:0000136 UBERON:0000955 ! is_about brain relationship: IAO:0000136 UBERON:0001017 ! is_about central nervous system relationship: IAO:0000136 UBERON:0001873 ! is_about caudate nucleus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004831 name: RR interval def: "A RR interval is an electrocardiography measurement - R wave to R wave interval (RR interval) and is the inverse of the heart rate." [] is_a: EFO:0004327 ! electrocardiography relationship: IAO:0000136 UBERON:0004535 ! is_about cardiovascular system property_value: definition:citation https://en.wikipedia.org/wiki/Heart_rate#Electronic_measurement xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004832 name: optic disc size measurement def: "Is a quantification of the optic disk size" [] is_a: EFO:0006936 ! optic disc measurement relationship: IAO:0000136 MONDO:0005041 ! is_about glaucoma relationship: IAO:0000136 UBERON:0001017 ! is_about central nervous system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004833 name: neutrophil count def: "Is a quantification of neutrophils in blood." [] def: "The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." [] synonym: "blood neutrophil count" EXACT [] xref: CMO:0000030 xref: MedDRA:10029363 xref: NCIt:C51950 xref: SNOMEDCT:30630007 is_a: EFO:0007987 ! granulocyte count is_a: EFO:0803548 ! neutrophil measurement relationship: IAO:0000136 CL:0000081 ! is_about blood cell relationship: IAO:0000136 CL:0000775 ! is_about neutrophil property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004836 name: obsolete_alcohol consumption def: "Is a quantification of alcohol consumed by a human." [] property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0004329 [Term] id: EFO:0004838 name: calcium measurement def: "Is a quantification of calcium, typically in serum. Calcium (Ca2+) plays a pivotal role in the physiology and biochemistry of organisms and the cell. It plays an important role in signal transduction pathways, where it acts as a second messenger, in neurotransmitter release from neurons, contraction of all muscle cell types, and fertilization. Many enzymes require calcium ions as a cofactor, those of the blood-clotting cascade being notable examples. Extracellular calcium is also important for maintaining the potential difference across excitable cell membranes, as well as proper bone formation." [] synonym: "calcium levels" EXACT [] xref: NCIt:C64488 xref: SNOMEDCT:71878006 is_a: EFO:0001444 ! measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 CHEBI:22984 ! is_about calcium atom property_value: definition:citation http://en.wikipedia.org/wiki/Blood_calcium#Measurement xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004839 name: CD4:CD8 lymphocyte ratio def: "Is the ratio of CD4 vs. CD8 lymphocytes, abormal ratios may reflect an infection such as HIV and the measurement may be used as an indicator of disease progression." [] is_a: EFO:0004872 ! inflammatory biomarker measurement relationship: IAO:0000136 CL:0000542 ! is_about lymphocyte relationship: IAO:0000136 GO:0006954 ! is_about inflammatory response property_value: definition:citation http://europepmc.org/abstract/MED/26130226 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004840 name: cortical thickness def: "Is a quantification of the thickness of brain cortex, e.g. measured by MRI, used in the diagnosis of Alzheimer's disease and other neurological conditions" [] is_a: EFO:0004464 ! brain measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain relationship: IAO:0000136 UBERON:0000956 ! is_about cerebral cortex property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/21810643 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004841 name: digit length ratio def: "Is the ratio of 2D:4D used a a marker for prenatal androgen exposure." [] is_a: EFO:0007861 ! body ratio measurement property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/20303062 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004842 name: eosinophil count def: "Is a quantification of eosinphils in blood." [] def: "The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." [] synonym: "blood eosinophil count" EXACT [] xref: CMO:0000033 xref: MedDRA:10014941 xref: NCIt:C64550 xref: SNOMEDCT:71960002 is_a: EFO:0007987 ! granulocyte count is_a: EFO:0803540 ! eosinophil measurement relationship: IAO:0000136 CL:0000081 ! is_about blood cell relationship: IAO:0000136 CL:0000771 ! is_about eosinophil property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004843 name: vitamin B measurement def: "Is a quantification of any or all of the B vitamins" [] is_a: EFO:0004729 ! vitamin measurement relationship: IAO:0000136 CHEBI:33229 ! is_about vitamin (role) property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004844 name: hip bone size def: "Is a quantification of the size of a human hip bone." [] is_a: EFO:0004324 ! body weights and measures is_a: EFO:0004512 ! bone measurement relationship: IAO:0000136 UBERON:0001474 ! is_about bone element property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004845 name: magnesium measurement def: "Is a quantification of magnesium in serum." [] xref: NCIt:C64840 xref: SNOMEDCT:38151008 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 CHEBI:25107 ! is_about magnesium atom property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004846 name: serotonin measurement def: "Is the quantification of circulating serotonin (5HT), a monoamine neurotransmitter" [] xref: NCIt:C74872 xref: SNOMEDCT:50880007 is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 CHEBI:28790 ! is_about serotonin relationship: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder relationship: IAO:0000136 EFO:0004243 ! is_about carcinoid tumor relationship: IAO:0000136 UBERON:0001017 ! is_about central nervous system property_value: definition:citation https://labtestsonline.org/understanding/analytes/serotonin/tab/test xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004847 name: age at onset def: "The age at which some process, or disease started in a human individual." [] is_a: EFO:0000246 ! age property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004857 name: vitamin A measurement def: "Is the quantification of any vitamin A compound." [] xref: NCIt:C74895 xref: SNOMEDCT:76609004 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0004729 ! vitamin measurement relationship: IAO:0000136 CHEBI:12777 ! is_about vitamin A property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004859 name: abdominal aortic artery calcification def: "Calcification of the abdominal aortic artery, used as an indicator of sub clinical athrosclerosis" [] is_a: HP:0001626 ! Abnormality of the cardiovascular system relationship: RO:0002314 UBERON:0001637 ! inheres in part of artery property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004860 name: common carotid intimal medial thickness def: "Is a quantification of the common carotid intimal medial thickness." [] is_a: EFO:0005278 ! cardiovascular disease biomarker measurement is_a: EFO:0007117 ! carotid artery intima media thickness relationship: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease relationship: IAO:0000136 UBERON:0001981 ! is_about blood vessel property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004861 name: phosphorus measurement def: "Is the quantification of serum phosphorus used in the diagnosis of hyper or hypophosphatemia, and used in the diagnosis of disease." [] xref: SNOMEDCT:8364005 is_a: EFO:0001444 ! measurement property_value: definition:citation http://www.nlm.nih.gov/medlineplus/ency/article/003478.htm xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004862 name: phytosterol measurement def: "Is the quantification of phytosterol, plant derived cholesterol like compounds." [] is_a: EFO:0004529 ! lipid measurement relationship: IAO:0000136 CHEBI:28824 ! is_about stigmasterol property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004863 name: recombination rate def: "Is the genome wide recombination rate." [] is_a: EFO:0005919 ! recombination measurement relationship: IAO:0000136 EFO:0004293 ! is_about recombination relationship: IAO:0000136 EFO:0004420 ! is_about genome property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004864 name: renal sinus adipose tissue measurement def: "Is the quantification of adipose tissue located in the renal sinus(es), correlated with chronic kidney disease and obesity." [] is_a: EFO:0004742 ! renal system measurement is_a: EFO:0004764 ! adipose tissue measurement relationship: IAO:0000136 EFO:0001073 ! is_about obesity relationship: IAO:0000136 EFO:0003086 ! is_about kidney disease relationship: IAO:0000136 UBERON:0001008 ! is_about renal system relationship: IAO:0000136 UBERON:0001013 ! is_about adipose tissue property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004865 name: thyroid volume def: "Is a quantification of the volume of the thyroid." [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 UBERON:0002046 ! is_about thyroid gland property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004866 name: autoantibody measurement def: "Is a quantification of an autoantibody, an antibody produced by the immune system and directed against an individual's own protein. e.g. anti-islet autoantibodies." [] xref: SNOMEDCT:314067002 is_a: EFO:0004556 ! antibody measurement is_a: EFO:0006846 ! autoimmune disease biomarker relationship: IAO:0000136 EFO:0000264 ! is_about antibody property_value: definition:citation http://en.wikipedia.org/wiki/Autoantibody xsd:string property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/21829393 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004867 name: vitamin E measurement def: "Is a quantification of vitamin E." [] xref: NCIt:C74906 xref: SNOMEDCT:7557006 is_a: EFO:0004729 ! vitamin measurement relationship: IAO:0000136 CHEBI:33229 ! is_about vitamin (role) property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004868 name: volumetric brain MRI def: "Is a quantification of brain volume using magnetic resonance imaging." [] is_a: EFO:0006930 ! brain volume measurement relationship: IAO:0000136 EFO:0001715 ! is_about volume relationship: IAO:0000136 UBERON:0000955 ! is_about brain relationship: IAO:0000136 UBERON:0001017 ! is_about central nervous system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004869 name: YKL40 measurement def: "Is a quantification of the secreted glycoprotein YKL-40 (Chitinase-3-like protein 1) YKL-40 has been associated with asthma, inflammatory disease and cancer progression." [] synonym: "CHI3L1 levels" EXACT [] synonym: "CHI3L1 measurement" EXACT [] synonym: "Chitinase-3-like protein 1 levels" EXACT [] synonym: "Chitinase-3-like protein 1 measurement" EXACT [] synonym: "YKL-40 levels" EXACT [] is_a: EFO:0004555 ! glycoprotein measurement is_a: EFO:0004872 ! inflammatory biomarker measurement is_a: EFO:0004873 ! cytokine measurement relationship: IAO:0000136 CHEBI:17089 ! is_about glycoprotein relationship: IAO:0000136 EFO:0003786 ! is_about cytokine relationship: IAO:0000136 GO:0006954 ! is_about inflammatory response property_value: definition:citation http://en.wikipedia.org/wiki/CHI3L1 xsd:string property_value: definition:citation http://europepmc.org/abstract/MED/25592985 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004870 name: sleep measurement def: "Is a quantification of some sleep parameter." [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 GO:0030431 ! is_about sleep property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004872 name: inflammatory biomarker measurement def: "Is a quantification of any molecule involved in the process of inflammatory response." [] comment: A container class for inflammatory biomarker measurements, populated by selecting all human proteins annotated with inflammatory response, or a child term, and including measurements of these proteins in this class. Only protein-GO term associations with a curated evidence code were considered, so IEA for e.g. were excluded. synonym: "inflammatory marker measurement" EXACT [] is_a: EFO:0001444 ! measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 GO:0006954 ! is_about inflammatory response property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004873 name: cytokine measurement def: "Is a quantification of some cytokine, secreted cell signalling molecules." [] xref: NCIt:C74804 is_a: EFO:0004747 ! protein measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 EFO:0003786 ! is_about cytokine property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004874 name: memory performance def: "Is a quantification of a subject's activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. Memory performance is typically assessed by some clinical memory test and is used in the diagnosis of diseases such as Alzheimer's disease." [] xref: SNOMEDCT:363888004 is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder relationship: IAO:0000136 UBERON:0001017 ! is_about central nervous system property_value: definition:citation http://purl.bioontology.org/ontology/SNOMEDCT/363888004 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004875 name: mathematical ability def: "Is the mental process necessary to acquire knowledge or skill in the measurement, properties, and relationships of quantities and sets, using numbers and symbols (mathematics)" [] is_a: EFO:0003925 ! cognition property_value: definition:citation http://purl.bioontology.org/ontology/CSP/2483-1658 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004880 name: urinary arsenic measurement def: "Is the quantification of arsenic urine." [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 CHEBI:27563 ! is_about arsenic atom property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004881 name: asparaginase hypersensitivity def: "Is an allergy to asaparaginase. Asparaginase is an enzyme isolated from the bacterium Escherichia coli or the bacterium Erwinia carotovora with antileukemic activity" [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004882 name: obsolete_avelline corneal dystrophy def: "Is a rare form of human corneal dystrophy. It is caused by mutations in the TGFBI gene encoding the protein keratoepithelin, and is inherited in an autosomal dominant pattern" [] synonym: "Granular corneal dystrophy type II" EXACT [] property_value: definition:citation http://en.wikipedia.org/wiki/Granular_corneal_dystrophy_type_II xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_98963' instead.\nNew Label : Granular corneal dystrophy type II" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_98963 [Term] id: EFO:0004883 name: obsolete_Blepharophimosis-Ptosis-Epicanthus inversus syndrome def: "A rare genetic disorder in which the eyelids are abnormally shaped" [] property_value: definition:citation http://purl.obolibrary.org/obo/DOID_14778 xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_126' instead.\nNew Label : Blepharophimosis-epicanthus inversus-ptosis" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_126 [Term] id: EFO:0004884 name: breast size def: "Is a quantification of some aspect of breast size" [] synonym: "mammary gland size" EXACT [] xref: SNOMEDCT:248808008 is_a: EFO:0004324 ! body weights and measures relationship: IAO:0000136 UBERON:0001911 ! is_about mammary gland property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004885 name: early cardiac repolarization measurement def: "Early repolarization pattern (ERP) is a common ECG variant, characterized by J point elevation manifested either as terminal QRS slurring (the transition from the QRS segment to the ST segment) or notching (a positive deflection inscribed on terminal QRS complex) associated with concave upward ST-segment elevation and prominent T waves in at least two contiguous leads." [] is_a: EFO:0004298 ! cardiovascular measurement relationship: IAO:0000136 UBERON:0004535 ! is_about cardiovascular system property_value: definition:citation http://circ.ahajournals.org/content/124/20/2185 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004886 name: intracranial volume measurement def: "Is a quantification of intracranial volume." [] synonym: "intra cranial volume measurement" EXACT [] is_a: EFO:0006930 ! brain volume measurement relationship: IAO:0000136 EFO:0001715 ! is_about volume relationship: IAO:0000136 UBERON:0000955 ! is_about brain relationship: IAO:0000136 UBERON:0001017 ! is_about central nervous system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004887 name: maximal oxygen uptake measurement def: "Is the quantification of is the maximum capacity of an individual's body to transport and use oxygen during incremental exercise, and is used as an indicator of physical fitness" [] synonym: "maximal aerobic capacity" EXACT [] synonym: "maximal oxygen consumption" EXACT [] synonym: "maximal oxygen uptake" EXACT [] synonym: "peak oxygen uptake" EXACT [] synonym: "VO2 max" EXACT [] is_a: EFO:0003892 ! pulmonary function measurement relationship: IAO:0000136 UBERON:0001004 ! is_about respiratory system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004888 name: post operative nausea and vomiting def: "Emesis and queasiness occurring after anesthesia." [] synonym: "Postoperative Nausea and Vomiting" EXACT [] xref: MeSH:D020250 is_a: EFO:0005323 ! post-operative sign or symptom is_a: HP:0002017 ! Nausea and vomiting property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004889 name: postoperative ventricular dysfunction def: "Postoperative ventricular dysfunction (VnD) occurs in 9-20% of coronary artery bypass graft (CABG) surgical patients and is associated with increased postoperative morbidity and mortality." [EFO:0004889] synonym: "postoperative ventricular dysfunction" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0005436 is_a: EFO:0001645 {source="EFO:0004889", source="EFO:0004889/inferred"} ! coronary artery disease is_a: MONDO:0045001 ! cardiac ventricle disorder relationship: EFO:0000784 UBERON:0002082 ! has_disease_location cardiac ventricle relationship: EFO:0000784 UBERON:0004535 ! has_disease_location cardiovascular system property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/21980348 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004890 name: anti-social behavior is_a: GO:0007610 ! behavior property_value: definition:citation http://purl.bioontology.org/ontology/RCD/X765z xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004891 name: callous character def: "Consistent lack of empathy" [] xref: SNOMEDCT:286734003 is_a: GO:0007610 ! behavior property_value: definition:citation http://purl.bioontology.org/ontology/RCD/Xa3ZI xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004892 name: Sasang constitutional medicine def: "Sasang constitutional medicine (SCM) is a unique form of traditional Korean medicine that divides human beings into four constitutional types (Tae-Yang: TY, Tae-Eum: TE, So-Yang: SY, and So-Eum: SE), which differ in inherited characteristics, such as external appearance, personality traits, susceptibility to particular diseases, drug responses, and equilibrium among internal organ functions." [] is_a: EFO:0004542 ! planned process property_value: definition:citation http://www.biomedcentral.com/1472-6882/12/85/abstract xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004893 name: testicular dysgenesis syndrome def: "A syndrome comprising testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis." [] def: "A syndrome comprising testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis." [EFO:0004893] synonym: "testicular dysgenesis syndrome" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0005437 xref: SCTID:445338005 {source="EFO:0004893", source="MONDO:equivalentTo"} xref: SNOMEDCT:445338005 xref: UMLS:C2919755 {source="MONDO:equivalentTo"} is_a: EFO:0009601 ! testicular disease is_a: MONDO:0001967 ! gonadal dysgenesis relationship: EFO:0000784 UBERON:0000473 ! has_disease_location testis property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/22140272 xsd:string property_value: exactMatch http://identifiers.org/snomedct/445338005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2919755 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004894 name: obsolete_tetralogy of fallot def: "A combination of congenital heart defects consisting of four key features including VENTRICULAR SEPTAL DEFECTS; PULMONARY STENOSIS; RIGHT VENTRICULAR HYPERTROPHY; and a dextro-positioned AORTA. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing CYANOSIS.)" [] xref: DOID:6419 xref: ICD9:745.2 xref: MeSH:D013771 xref: NCIt:C84505 xref: SNOMEDCT:86299006 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.60" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with the HP class 'tetraology of fallot'" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HP_0001636 [Term] id: EFO:0004895 name: Tourette syndrome def: "A neurologic disorder caused by defective metabolism of the neurotransmitters in the brain. It is characterized by repeated involuntary movements (motor tics) and uncontrollable vocal sounds (vocal tics). The symptoms are usually manifested before the age of eighteen." [NCIT:P378] def: "A neuropsychological disorder related to alterations in DOPAMINE metabolism and neurotransmission involving frontal-subcortical neuronal circuits. Both multiple motor and one or more vocal tics need to be present with TICS occurring many times a day, nearly daily, over a period of more than one year. The onset is before age 18 and the disturbance is not due to direct physiological effects of a substance or a general medical condition. The disturbance causes marked distress or significant impairment in social, occupational, or other important areas of functioning. (From DSM-IV, 1994; Neurol Clin 1997 May;15(2):357-79)" [] synonym: "chronic motor tics" RELATED [OMIM:137580] synonym: "Gilles De 50A Tourette syndrome" RELATED [OMIM:137580] synonym: "Gilles de la Tourette syndrome" RELATED [MONDO:Lexical, OMIM:137580, Orphanet:856] synonym: "GTS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:137580, Orphanet:856] synonym: "Guinon's disease" EXACT [DOID:11119] synonym: "motor-verbal tic disorder" EXACT [DOID:11119] synonym: "psychogenic tics" EXACT [DOID:11119] synonym: "Tourette disease" EXACT [Orphanet:856] synonym: "Tourette disorder" RELATED [OMIM:137580] synonym: "Tourette syndrome" EXACT [DOID:11119, OMIM:137580] synonym: "Tourette syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Tourette's syndrome" EXACT [NCIT:C35078] xref: DOID:11119 {source="MONDO:equivalentTo"} xref: ICD9:307.23 {source="DOID:11119"} xref: MedDRA:10044125 xref: MESH:D005879 {source="EFO:0004895", source="DOID:11119", source="MONDO:equivalentTo"} xref: MeSH:D005879 xref: MONDO:0007661 xref: NCIT:C35078 {source="EFO:0004895", source="DOID:11119", source="MONDO:equivalentTo"} xref: NCIt:C35078 xref: OMIM:137580 {source="EFO:0004895", source="DOID:11119", source="MONDO:equivalentTo"} xref: Orphanet:856 {source="MONDO:equivalentObsolete", source="OMIM:137580"} xref: SCTID:5158005 {source="DOID:11119", source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="MESH:D005879/inferred"} ! genetic disorder is_a: EFO:0004280 {source="MESH:D005879/inferred", source="NCIT:C35078"} ! movement disorder is_a: MONDO:0002254 {source="NCIT:C35078"} ! syndromic disease is_a: MONDO:0002420 {source="DOID:11119", source="MESH:D005879"} ! tic disorder property_value: exactMatch DOID:11119 property_value: exactMatch http://identifiers.org/mesh/D005879 property_value: exactMatch http://identifiers.org/snomedct/5158005 property_value: exactMatch https://omim.org/entry/137580 property_value: exactMatch NCIT:C35078 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: EFO:0004900 name: obsolete_Yoruba def: "The Yoruba people are one of the largest ethnic groups in West Africa." [] synonym: "YRI" EXACT [] xref: SNOMEDCT:440659006 property_value: definition:citation http://en.wikipedia.org/wiki/Yoruba_people xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0575 [Term] id: EFO:0004901 name: obsolete_Northern and Western European def: "Population of northern and western European ancestry." [] synonym: "CEU" EXACT [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0005 [Term] id: EFO:0004902 name: European HapMap cell line is_a: EFO:0002933 ! HapMap cell line intersection_of: OBI:0000295 EFO:0002924 ! is_specified_input_of HapMap haplotype mapping intersection_of: RO:0001000 HANCESTRO:0005 ! derives_from European relationship: OBI:0000295 EFO:0002924 ! is_specified_input_of HapMap haplotype mapping [Term] id: EFO:0004903 name: probe design element def: "The probe which is used in an assay such as an array for detecting sequence or gene expression levels." [] is_a: EFO:0000548 ! instrument property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004904 name: obsolete_hereditary genetic disorder def: "A hereditary genetic disorder is a genetic disorder in which an abnormality, i.e. mutation, of a gene or gene has occurred resulting in a diseased state which is directly inherited." [] property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "superceded by orphanet import" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000508 [Term] id: EFO:0004905 name: induced pluripotent stem cell def: "Induced pluripotent stem cells (iPS cells or iPSCs) are a type of pluripotent stem cell artificially derived from a non-pluripotent cell. Various methods exist to revert cells to pluripotency such as reprogramming mediated through a mature metaphase II oocyte as in somatic cell nuclear transfer." [] comment: Submitted by Nancy Mah synonym: "iPS cell" EXACT [] synonym: "iPSC" EXACT [] is_a: CL:0002248 ! pluripotent stem cell is_a: EFO:0002958 ! experimental cell relationship: RO:0000056 EFO:0002694 ! participates_in experimental process property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0004906 name: lymph node metastatic carcinoma def: "The spread of a malignant neoplasm to the lymph nodes." [NCIT:C4904] synonym: "Metastases to lymph nodes" EXACT [NCIT:C4904] synonym: "metastasis to lymph node" EXACT [NCIT:C4904] synonym: "metastatic malignant neoplasm in the lymph nodes" EXACT [] {comment="preferred label from MONDO"} synonym: "metastatic malignant neoplasm in the lymph nodes" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "metastatic malignant neoplasm to the lymph nodes" EXACT [NCIT:C4904] synonym: "metastatic neoplasm to the lymph node" EXACT [NCIT:C4904] synonym: "metastatic tumor to lymph node" EXACT [NCIT:C4904] synonym: "metastatic tumour to lymph node" EXACT OMO:0003005 [] xref: EFO:0004906 {source="MONDO:equivalentTo"} xref: MONDO:0005438 xref: NCIT:C4904 {source="MONDO:equivalentTo", source="EFO:0004906"} xref: UMLS:C0686619 {source="NCIT:C4904", source="MONDO:equivalentTo"} is_a: MONDO:0001082 {source="MONDO:Redundant", source="NCIT:C4904"} ! lymph node cancer relationship: EFO:0000784 UBERON:0000029 ! has_disease_location lymph node property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0686619 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0686619 property_value: exactMatch NCIT:C4904 property_value: exactMatch NCIT:C4904 property_value: excluded_subClassOf MONDO:0004993 {source="EFO:0004906"} [Term] id: EFO:0004908 name: testosterone measurement def: "is a quantification of testosterone, typically in serum. Testosterone is a steroid hormone.Testosterone measurement is used in the diagnosis of\nprecocious or delayed puberty, infertility (in men and women), ovarian tumours, adrenal tumours and pituitary disorders.\n" [] synonym: "testosterone level" EXACT [] synonym: "testosterone levels" EXACT [] xref: NCIt:C75378 xref: SNOMEDCT:104957004 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0011008 ! sex hormone measurement relationship: IAO:0000136 CHEBI:17347 ! is_about testosterone relationship: IAO:0000136 CHEBI:50112 ! is_about sex hormone relationship: IAO:0000136 EFO:0001382 ! is_about puberty property_value: definition:citation http://labtestsonline.org.uk/understanding/analytes/testosterone/tab/test/ xsd:string property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004909 name: dihydrotestosterone measurement def: "is a quantification of dihydrotestosterone (DHT), typically in serum. Dihydrotestosterone is a steroid hormone, a small percentage of testosterone is reduced to DHT which has a greater affinity for androgen receptors." [] synonym: "dihydrotestosterone levels" EXACT [] xref: NCIt:C74853 is_a: EFO:0004730 ! hormone measurement relationship: IAO:0000136 CHEBI:24621 ! is_about hormone property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004910 name: CYP3A4 activity def: "is a quantification of cytochrome P450 3A4 activity. CP4503A4 is a heme-thiolate monooxygenases induced in response to drugs, pesticides and carcinogens (Uniprot definition)." [] synonym: "CYP3A4 enzyme activity. " EXACT [] is_a: EFO:0004582 ! liver enzyme measurement relationship: IAO:0000136 OBI:0000427 ! is_about enzyme relationship: IAO:0000136 UBERON:0002107 ! is_about liver property_value: definition:citation http://www.uniprot.org/uniprot/P08684 xsd:string property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004911 name: familial hypercholesterolemia def: "An inheritable form of hyperlipidemia, in which there are excess lipids in the blood." [NCIT:C34704] def: "Familial hypercholesterolaemia is an autosomal inherited disorder characterized by markedly elevated LDL-cholesterol levels and an increased risk of premature atherosclerotic cardiovascular disease" [] def: "Familial hypercholesterolemia is is an autosomal dominant disorder characterized by elevation of serum cholesterol bound to low density lipoprotein (OMIM)" [] comment: Editor note: TODO check xrefs comment: PMID:26076948 synonym: "familial hyperbetalipoproteinaemia" EXACT [DOID:13810] synonym: "familial hypercholesteremia" EXACT [DOID:13810] synonym: "familial hypercholesterolaemia" EXACT [] synonym: "familial hypercholesterolemia" EXACT [] {comment="preferred label from MONDO"} synonym: "Fredrickson type IIa hyperlipoproteinemia" EXACT [DOID:13810] synonym: "Fredrickson type IIa lipidaemia" EXACT [DOID:13810] synonym: "hyperbetalipoproteinemia" EXACT [DOID:13810] synonym: "Hyperlipoproteinemia Type II" EXACT [] synonym: "hyperlipoproteinemia type II" EXACT [NCIT:C34704] synonym: "type II hyperlipidemia" RELATED [DOID:13810, NCIT:C34704] xref: DOID:13810 {source="MONDO:equivalentTo", source="EFO:0004911"} xref: ICD9:V19.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10054380 xref: MeSH:D006938 xref: MONDO:0005439 xref: NCIT:C34704 {source="DOID:13810", source="MONDO:equivalentTo"} xref: OMIM:143890 xref: OMIM:144010 xref: OMIM:603776 xref: OMIMPS:143890 {source="MONDO:equivalentTo"} xref: Orphanet:477811 {source="MONDO:relatedTo"} xref: SCTID:190773008 {source="DOID:13810", source="MONDO:equivalentTo"} xref: SNOMEDCT:398036000 xref: UMLS:CN118841 {source="MONDO:equivalentTo"} is_a: MONDO:0001336 ! familial hyperlipidemia is_a: MONDO:0037748 {source="NCIT:C34704"} ! hyperlipoproteinemia property_value: exactMatch DOID:13810 property_value: exactMatch http://identifiers.org/snomedct/190773008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN118841 property_value: exactMatch https://omim.org/phenotypicSeries/PS143890 property_value: exactMatch NCIT:C34704 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0004912 name: serum IgA measurement def: "Is a quantification of immunoglobulin A, an antibody with a role in mucosal immunity. Reduced levels of IgA may indicate a congenital deficiency and increased levels may indicate multiple myeloma." [] synonym: "IgA levels" EXACT [] synonym: "serum immunoglobulin A measurement" EXACT [] is_a: EFO:0004556 ! antibody measurement relationship: IAO:0000136 EFO:0000264 ! is_about antibody property_value: definition:citation http://labtestsonline.org.uk/understanding/analytes/immunoglobulins/tab/test/ xsd:string property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004913 name: lentiform nucleus measurement def: "Is a quantification of the lentiform nucleus (or lenticular nucleus) volume, typically by MRI. Deficits in lentiform nucleus volume and morphometry are implicated in a number of genetically influenced disorders, including Parkinson’s disease, schizophrenia, and ADH." [] synonym: "lenticular nucleus measurement" EXACT [] synonym: "lentiform nucleus volume" EXACT [] is_a: EFO:0006848 ! mental or behavioural disorder biomarker is_a: EFO:0006930 ! brain volume measurement relationship: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder relationship: IAO:0000136 EFO:0001715 ! is_about volume relationship: IAO:0000136 UBERON:0000955 ! is_about brain relationship: IAO:0000136 UBERON:0001017 ! is_about central nervous system property_value: definition:citation http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3779070/ xsd:string property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004914 name: facial neural processing def: "Is a quantification of the ability of humans to process different facial expressions, measured by MRI." [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 UBERON:0001017 ! is_about central nervous system property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004915 name: vaspin measurement def: "Is a quantification of vaspin, commonly termed Serpin A12 (visceral adipose tissue-derived serine protease inhibitor) , typically in serum an adipokine which may modulate insulin activity in white adipose tissue (Uniprot)." [] synonym: "Serpin A12 measurement" EXACT [] synonym: "vaspin levels" EXACT [] is_a: EFO:0001444 ! measurement property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/22139797 xsd:string property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004917 name: high throughput sequence alignment protocol def: "Is a protocol which provides instructions on the alignment of sequencing reads to reference genome" [] is_a: EFO:0003788 ! gene expression protocol property_value: IAO:0000117 "Natalja Kurbatova" xsd:string [Term] id: EFO:0004918 name: age at diagnosis def: "The age, measured from some defined time point e.g. birth at which a subject (e.g. a human patient) is diagnosed with some disease e.g. breast cancer." [] xref: SNOMEDCT:423493009 is_a: EFO:0004949 ! clinical temporal measurement property_value: definition:citation http://purl.bioontology.org/ontology/SNOMEDCT/423493009 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004919 name: metastasis free survival def: "The percentage of subjects in a study who have survived without cancer spread for a defined period of time. Usually reported as time since diagnosis or treatment. Can be reported for an individual or a study population." [] synonym: "metastasis free survival time" EXACT [] is_a: EFO:0000482 ! event free survival time property_value: definition:citation "www.oncura.net/glossary.php" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004920 name: progression free survival def: "Progression free survival is a measurement from a defined time point e.g. diagnosis and indicates that the disease did not progress i.e. tumours did not increase in size and new incidences did not occur. PFS is usually used in analyzing results of treatment for advanced disease." [] synonym: "time before disease progression" EXACT [] is_a: EFO:0000409 ! disease free survival property_value: definition:citation http://cancerguide.org/scurve_basic.html xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004921 name: GM00038 def: "Apparently health human non-fetal tissue." [] xref: http://ccr.coriell.org/Sections/Search/Sample_Detail.aspx?Ref=GM00038&PgId=166 is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004922 name: GM00719 def: "ATAXIA-TELANGIECTASIA; AT" [] synonym: "GM00719 cell" EXACT [] xref: OMIM:208900 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0004923 name: peripheral vein def: "Any vein not in the chest or abdomen." [] is_a: UBERON:0001638 ! vein property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004924 name: obsolete_ataxia telangiectasia property_value: definition:citation "Louis–Bar syndrome" xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.32" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'http://www.orpha.net/ORDO/Orphanet_100' instead.\nNew Label : Ataxia-telangiectasia" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_100 [Term] id: EFO:0004925 name: tumor stage def: "Tumor stage as classified by the TNM system. T describes the size of the tumor and whether it has invaded nearby tissue, N describes regional lymph nodes that are involved, M describes distant metastasis (spread of cancer from one body part to another)." [] comment: All child terms imported from RadLex, with Radlex Xrefs. Closest classification to ArrayExpress type data. synonym: "tumour stage" EXACT [] xref: SNOMEDCT:371508000 is_a: EFO:0000410 ! disease staging property_value: definition:citation http://en.wikipedia.org/wiki/TNM_staging_system xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004926 name: M stage synonym: "distant metastasis stage" EXACT [] synonym: "metastasis stage" EXACT [] synonym: "metastatic stage" EXACT [] xref: NCIt:C25727 is_a: EFO:0004925 ! tumor stage property_value: definition:citation http://purl.bioontology.org/ontology/RID/RID39276 xsd:string [Term] id: EFO:0004927 name: N stage def: "regional lymph node stage" [] synonym: "lymph node stage" EXACT [] xref: NCIt:C25580 is_a: EFO:0004925 ! tumor stage property_value: definition:citation http://purl.bioontology.org/ontology/RID/RID39275 xsd:string property_value: definition:citation http://purl.bioontology.org/ontology/RID/RID39278 xsd:string [Term] id: EFO:0004928 name: T stage def: "primary tumor staging" [] synonym: "primary tumor stage" EXACT [] synonym: "primary tumour stage" EXACT [] xref: NCIt:C25728 is_a: EFO:0004925 ! tumor stage property_value: definition:citation http://purl.bioontology.org/ontology/RID/RID39274 xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004929 name: M0 distant metastasis stage is_a: EFO:0004926 ! M stage property_value: definition:citation http://purl.bioontology.org/ontology/RID/RID39294 xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004930 name: M1 distant metastasis stage is_a: EFO:0004926 ! M stage property_value: definition:citation http://purl.bioontology.org/ontology/RID/RID39295 xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004931 name: MX distant metastasis stage is_a: EFO:0004926 ! M stage property_value: definition:citation http://purl.bioontology.org/ontology/RID/RID39294 xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004932 name: N0 lymph node stage is_a: EFO:0004927 ! N stage property_value: definition:citation http://purl.bioontology.org/ontology/RID/RID39289 xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004933 name: N1 lymph node stage is_a: EFO:0004927 ! N stage property_value: definition:citation http://purl.bioontology.org/ontology/RID/RID39293 xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004934 name: N2 lymph node stage is_a: EFO:0004927 ! N stage property_value: definition:citation http://purl.bioontology.org/ontology/RID/RID39291 xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004935 name: N3 lymph node stage is_a: EFO:0004927 ! N stage property_value: definition:citation http://purl.bioontology.org/ontology/RID/RID39292 xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004936 name: NX lymph node stage is_a: EFO:0004927 ! N stage property_value: definition:citation http://purl.bioontology.org/ontology/RID/RID39290 xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004937 name: T0 stage is_a: EFO:0004928 ! T stage property_value: definition:citation http://purl.bioontology.org/ontology/RID/RID39278 xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004938 name: T1 tumor stage is_a: EFO:0004928 ! T stage property_value: definition:citation http://purl.bioontology.org/ontology/RID/RID39280 xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004939 name: T2 tumor stage is_a: EFO:0004928 ! T stage property_value: definition:citation http://purl.bioontology.org/ontology/RID/RID39281 xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004940 name: T3 tumor stage is_a: EFO:0004928 ! T stage property_value: definition:citation http://purl.bioontology.org/ontology/RID/RID39282 xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004941 name: T3a tumor stage is_a: EFO:0004940 ! T3 tumor stage property_value: definition:citation http://purl.bioontology.org/ontology/RID/RID39284 xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004942 name: T3b tumor stage is_a: EFO:0004940 ! T3 tumor stage property_value: definition:citation http://purl.bioontology.org/ontology/RID/RID39285 xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004943 name: T3c tumor stage is_a: EFO:0004940 ! T3 tumor stage property_value: definition:citation http://purl.bioontology.org/ontology/RID/RID39286 xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004944 name: T4 tumor stage is_a: EFO:0004928 ! T stage property_value: definition:citation http://purl.bioontology.org/ontology/RID/RID39283 xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004945 name: T4a tumor stage is_a: EFO:0004944 ! T4 tumor stage property_value: definition:citation http://purl.bioontology.org/ontology/RID/RID39287 xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004946 name: T4b tumor stage is_a: EFO:0004944 ! T4 tumor stage property_value: definition:citation http://purl.bioontology.org/ontology/RID/RID39288 xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004947 name: Tis def: "Carcinoma in situ (CIS; abnormal cells are present but have not spread to neighboring tissue; although not cancer, CIS may become cancer and is sometimes called preinvasive cancer)" [] is_a: EFO:0004928 ! T stage property_value: definition:citation http://purl.bioontology.org/ontology/RID/RID39279 xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004948 name: TX def: "A stage in which the tumor cannot be evaluated" [] is_a: EFO:0004941 ! T3a tumor stage property_value: definition:citation http://purl.bioontology.org/ontology/RID/RID39277 xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004949 name: clinical temporal measurement def: "A temporal measurement related to disease progression" [] synonym: "clinical event" EXACT [] is_a: EFO:0000719 ! temporal measurement property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004950 name: date of birth def: "The point in time at which an individual was born." [] xref: SNOMEDCT:184099003 is_a: EFO:0000724 ! timepoint property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004951 name: alive at endpoint def: "A clinical temporal measurement indicating that the subject is alive at the end of the clinical investigation." [] is_a: EFO:0004949 ! clinical temporal measurement property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004952 name: disease recurrence def: "The recurrence of a disease after treatment" [] synonym: "relapse" EXACT [] xref: MedDRA:10061819 is_a: EFO:0004949 ! clinical temporal measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004953 name: date of diagnosis def: "The point at which a clinical diagnosis is made." [] xref: SNOMEDCT:432213005 is_a: EFO:0000724 ! timepoint is_a: EFO:0004949 ! clinical temporal measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004954 name: melanoma staging def: "Staging information for melanoma." [] is_a: EFO:0000410 ! disease staging property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004955 name: Breslow thickness def: "The measurement in millimeters of the vertical thickness of primary cutaneous melanoma. Breslow thickness is measured from the granular layer of the epidermis, or the ulcer base (if ulcerated), to the deepest tumor cells. It is used in staging of melanoma. (NCI)" [] synonym: "Breslow's thickness" EXACT [] xref: NCIt:C25734 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:0004954 ! is_about melanoma staging property_value: definition:citation http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Breslow_Thickness xsd:string property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0004956 name: Clark level def: "A morphologic finding indicating the cutaneous melanoma depth of invasion into the dermis and subcutaneous tissue. OR A system for describing how deep melanoma has spread into the skin. Levels I-V describe the layers of skin involved.NCI-GLOSS" [] xref: SNOMEDCT:260763001 is_a: EFO:0004954 ! melanoma staging property_value: definition:citation http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Clark_Level xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004957 name: Clark level I def: "A morphologic finding indicating that the cutaneous melanoma is confined to the epidermis and does not invade the dermis." [] synonym: "Clark level I melanoma" EXACT [] xref: ICD10:D03 xref: NCIt:C94812 is_a: EFO:0004956 ! Clark level property_value: definition:citation http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Clark_Level_I xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004958 name: Clark level II def: "A morphologic finding indicating that the cutaneous melanoma has invaded part of the papillary dermis but the malignant cellular infiltrate has not reached the papillary-reticular dermis interface." [] synonym: "Clark level II melanoma" EXACT [] xref: NCIt:C94813 is_a: EFO:0004956 ! Clark level property_value: definition:citation http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Clark_Level_II xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004959 name: Clark level III def: "A morphologic finding indicating that the cutaneous melanoma has invaded the entire thickness of the papillary dermis but the malignant cellular infiltrate does not extend into the reticular dermis." [] synonym: "Clark level 1 melanoma" EXACT [] xref: NCIt:C94814 is_a: EFO:0004956 ! Clark level property_value: definition:citation http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Clark_Level_III xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004960 name: Clark level IV def: "A morphologic finding indicating that the cutaneous melanoma has invaded the reticular dermis" [] xref: NCIt:C94815 is_a: EFO:0004956 ! Clark level property_value: definition:citation http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Clark_Level_IV xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004961 name: Clark level V def: "A morphologic finding indicating that the cutaneous melanoma has invaded the subcutaneous tissue." [] synonym: "Clark level V melanoma" EXACT [] xref: NCIt:C94816 is_a: EFO:0004956 ! Clark level property_value: definition:citation http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Clark_Level_V xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004963 name: gene knock in def: "a genetic transformation that involves the insertion of a protein coding cDNA sequence at a particular locus in an organism's chromosome. Typically, this is done in mice since the technology for this process is more refined, and because mouse embryonic stem cells are easily manipulated. The difference between knock-in technology and transgenic technology is that a knock-in involves a gene inserted into a specific locus, and is a \"targeted\" insertion." [] is_a: EFO:0000510 ! genetic modification property_value: definition:citation http://purl.obolibrary.org/obo/OBI_0001149 xsd:string [Term] id: EFO:0004964 name: total RNA def: "An RNA extract that is the output of an extraction process in which total RNA from either whole cells or from specific cellular compartment(s)/organelle(s) are isolated from a specimen." [] synonym: "total RNA extract" EXACT [] is_a: CHEBI:33697 ! ribonucleic acid property_value: definition:citation http://purl.obolibrary.org/obo/OBI_0000895 xsd:string property_value: definition:citation "Modified from original OBI term to include more than just organelle RNA." xsd:string [Term] id: EFO:0004967 name: Alexa Fluor 647 xref: MeSH:C569686 is_a: CHEBI:24431 ! chemical entity [Term] id: EFO:0004968 name: Alexa Fluor 555 is_a: CHEBI:24431 ! chemical entity [Term] id: EFO:0004972 name: somatic genotype def: "The total sum of the genetic information of an organism's somatic cells" [] is_a: EFO:0000513 ! genotype property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004973 name: germline genotype def: "The total sum of the genetic information of an organism's germline" [] is_a: EFO:0000513 ! genotype property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004979 name: comprehensive strength index def: "Compressive strength index (CSI) is a predictive measure for hip fracture risk that integrates multiple parameters including hip BMD, femur neck area, and weight." [] is_a: EFO:0004302 ! anthropometric measurement property_value: definition:citation http://www.sciencedirect.com/science/article/pii/S8756328212011635 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004980 name: appendicular lean mass def: "Appendicular lean mass is a measurement of skeletal strength of lower limbs and is used as a predictive measure of hip fracture." [] is_a: EFO:0004302 ! anthropometric measurement is_a: EFO:0004516 ! bone fracture related measurement relationship: IAO:0000136 EFO:0003964 ! is_about hip fracture property_value: definition:citation http://www.sciencedirect.com/science/article/pii/S8756328212011635 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004981 name: peridontal microbiome def: "The peridontal microbiome is a collection of collectivity of microorganisms isolated from human gum." [] is_a: EFO:0004982 ! microbiome property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004982 name: microbiome def: "A collection or collectivity of microorganisms." [] xref: NCIt:C68564 is_a: OBI:0000181 ! population property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004983 name: complement C3 measurement def: "Complement C3 measurement is a quantification of the C3 glycoprotein typically in serum, that is central in both the classical and the alternative pathway of complement activation . Complement activation, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes." [] synonym: "complement C3 levels" EXACT [] xref: NCIt:C80174 is_a: EFO:0004555 ! glycoprotein measurement is_a: EFO:0006846 ! autoimmune disease biomarker relationship: IAO:0000136 CHEBI:17089 ! is_about glycoprotein property_value: definition:citation http://www.nlm.nih.gov/medlineplus/ency/article/003539.htm xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004984 name: complement C4 measurement def: "Complement C4 measurement is a quantification of the C4 glycoprotein, typically in serum, that is central in both the classical and the alternative pathway of complement activation . Complement activation, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes." [] synonym: "complement C4 levels" EXACT [] xref: NCIt:C80177 is_a: EFO:0004555 ! glycoprotein measurement is_a: EFO:0006846 ! autoimmune disease biomarker relationship: IAO:0000136 CHEBI:17089 ! is_about glycoprotein property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004985 name: platelet reactivity measurement def: "A platelet reactivity measurement is the quantification of platelet reactivity e.g. by measuring platelet induced agglutination. High levels of platelet reactivity are reported to be associated with cardiovascular events." [] is_a: EFO:0005036 ! platelet measurement is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 CL:0000233 ! is_about platelet relationship: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0004986 name: embryonal carcinoma def: "A non-seminomatous malignant germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum)." [NCIT:C3752] comment: Editor note: TODO check classification w.r.t carcinoma subset: gard_rare {source="GARD:0005140"} subset: ordo_disease {source="Orphanet:180226"} synonym: "carcinoma, embryonal, malignant" EXACT [NCIT:C3752] synonym: "embryonal carcinoma" EXACT [MONDO:0015862, NCIT:C3752] synonym: "embryonal carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "embryonal carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "primary extragonadal embryonal carcinoma" NARROW [DOID:3308] xref: DOID:3308 {source="MONDO:equivalentTo", source="EFO:0004986"} xref: EFO:0004986 {source="MONDO:equivalentTo"} xref: GARD:0005140 {source="MONDO:equivalentTo"} xref: ICD10:C22.7 {source="ORDO:180226/btnt", source="Orphanet:180226"} xref: ICD10:C71.9 {source="ORDO:180226/btnt", source="Orphanet:180226"} xref: ICDO:9070/3 {source="NCIT:C3752"} xref: MESH:D018236 {source="Orphanet:180226/e", source="MONDO:equivalentTo", source="DOID:3308", source="Orphanet:180226"} xref: MESH:D018236 {source="MONDO:equivalentTo", source="DOID:3308", source="Orphanet:180226", source="ORDO:180226/e"} xref: MONDO:0005440 xref: NCIT:C3752 {source="MONDO:equivalentTo", source="EFO:0004986", source="DOID:3308"} xref: ONCOTREE:EMBCA {source="MONDO:equivalentTo"} xref: Orphanet:180226 {source="MONDO:equivalentTo"} xref: UMLS:C0206659 {source="Orphanet:180226/e", source="MONDO:equivalentTo", source="NCIT:C3752", source="DOID:3308", source="Orphanet:180226"} xref: UMLS:C0206659 {source="MONDO:equivalentTo", source="NCIT:C3752", source="DOID:3308", source="Orphanet:180226", source="ORDO:180226/e"} is_a: MONDO:0003578 ! extragonadal nonseminomatous germ cell tumor property_value: closeMatch http://identifiers.org/snomedct/189843003 property_value: closeMatch http://identifiers.org/snomedct/28047004 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0855159 property_value: closeMatch NCIT:C8880 property_value: exactMatch DOID:3308 property_value: exactMatch DOID:3308 property_value: exactMatch http://identifiers.org/mesh/D018236 property_value: exactMatch http://identifiers.org/mesh/D018236 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206659 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206659 property_value: exactMatch NCIT:C3752 property_value: exactMatch NCIT:C3752 property_value: exactMatch Orphanet:180226 property_value: excluded_subClassOf MONDO:0004993 {source="EFO:0004986"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5140/embryonal-carcinoma xsd:anyURI {source="GARD:0005140"} [Term] id: EFO:0004987 name: embryonal carcinoma cell def: "A cell which bears embryonal carcinoma." [] is_a: CL:0002321 ! embryonic cell (metazoa) is_a: EFO:0005934 ! disease cell type relationship: has_characteristic EFO:0004986 ! embryonal carcinoma property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004988 name: obsolete_embryoid body def: "Embryoid bodies (EBs) are three-dimensional aggregates of pluripotent stem cells." [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with UBERON_0014374" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0014374 [Term] id: EFO:0004990 name: J1 def: "J1 is an embryonic cell line." [] xref: SNOMEDCT:260248003 is_a: EFO:0003040 ! embryonic cell line [Term] id: EFO:0004991 name: Myasthenia gravis def: "A disorder of neuromuscular transmission characterized by weakness of cranial and skeletal muscles. Autoantibodies directed against acetylcholine receptors damage the motor endplate portion of the neuromuscular junction, impairing the transmission of impulses to skeletal muscles. Clinical manifestations may include diplopia, ptosis, and weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles. THYMOMA is commonly associated with this condition. (Adams et al., Principles of Neurology, 6th ed, p1459)" [] def: "Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles." [Orphanet:589] subset: gard_rare {source="GARD:0007122"} subset: ordo_disease {source="Orphanet:589"} synonym: "acquired myasthenia" EXACT [Orphanet:589] synonym: "autoimmune myasthenia gravis" EXACT [Orphanet:589] synonym: "MG" RELATED ABBREVIATION [MONDO:Lexical, OMIM:254200] synonym: "myasthenia gravis" EXACT [] {comment="preferred label from MONDO"} synonym: "myasthenia gravis" EXACT [MONDO:Lexical, NCIT:C60989, OMIM:254200] xref: DOID:437 {source="EFO:0004991", source="MONDO:equivalentTo"} xref: ICD10:G70 xref: ICD10CM:G70.0 {source="DOID:437", source="Orphanet:589", source="MONDO:equivalentTo", source="Orphanet:589/e"} xref: ICD9:358.0 {source="EFO:0004991", source="DOID:437", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:358.00 {source="DOID:437", source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10028417 {source="Orphanet:589", source="Orphanet:589/e"} xref: MESH:D009157 {source="EFO:0004991", source="DOID:437", source="Orphanet:589", source="MONDO:equivalentTo", source="Orphanet:589/e"} xref: MeSH:D009157 xref: MONDO:0009688 xref: NCIT:C60989 {source="EFO:0004991", source="DOID:437", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIt:C60989 xref: OMIM:254200 {source="DOID:437", source="Orphanet:589", source="MONDO:equivalentTo", source="Orphanet:589/e"} xref: Orphanet:589 {source="MONDO:equivalentTo", source="OMIM:254200"} xref: SCTID:91637004 {source="EFO:0004991", source="DOID:437", source="MONDO:equivalentTo"} xref: SNOMEDCT:91637004 xref: UMLS:C0026896 {source="DOID:437", source="Orphanet:589", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C60989", source="OMIM:254200", source="Orphanet:589/e"} is_a: EFO:0005140 ! autoimmune disease is_a: MONDO:0000590 {source="DOID:437", source="MONDO:Entailed", source="MONDO:indirect"} ! autoimmune disorder of peripheral nervous system is_a: MONDO:0015923 ! acquired peripheral neuropathy is_a: MONDO:0018743 {source="Orphanet:589"} ! immune-mediated acquired neuromuscular junction disease property_value: closeMatch http://identifiers.org/meddra/10028417 property_value: exactMatch DOID:437 property_value: exactMatch http://identifiers.org/mesh/D009157 property_value: exactMatch http://identifiers.org/snomedct/91637004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026896 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G70.0 property_value: exactMatch https://omim.org/entry/254200 property_value: exactMatch NCIT:C60989 property_value: exactMatch Orphanet:589 property_value: gwas:trait "true" xsd:boolean property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7122/myasthenia-gravis xsd:anyURI {source="GARD:0007122"} [Term] id: EFO:0004992 name: Otitis media def: "An acute or chronic inflammatory process affecting the middle ear." [] def: "Inflammation of the anatomical structures of the middle ear, which is most often caused by an infectious process. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever." [NCIT:C34885] synonym: "AOM" EXACT [] synonym: "inflammation of middle ear" EXACT [] synonym: "medial otitis" EXACT [NCIT:C34885] synonym: "middle Ear Inflammation" EXACT [NCIT:C34885] synonym: "middle ear inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site, NCIT:C34885] synonym: "otitis Media" EXACT [NCIT:C34885] synonym: "otitis media" EXACT [] {comment="preferred label from MONDO"} synonym: "otitis media (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:10754 {source="EFO:0004992", source="MONDO:equivalentTo"} xref: HP:0000388 {source="MONDO:otherHierarchy"} xref: ICD9:382.9 {source="DOID:10754", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10033078 xref: MESH:D010033 {source="EFO:0004992", source="DOID:10754", source="MONDO:equivalentTo"} xref: MeSH:D010033 xref: MONDO:0005441 xref: NCIT:C34885 {source="EFO:0004992", source="DOID:10754", source="MONDO:equivalentTo"} xref: NCIt:C34885 xref: SCTID:65363002 {source="EFO:0004992", source="DOID:10754", source="MONDO:equivalentTo"} xref: SNOMEDCT:65363002 xref: UMLS:C0029882 {source="DOID:10754", source="MONDO:equivalentTo", source="NCIT:C34885"} is_a: EFO:0000524 ! head and neck disorder is_a: EFO:0009903 {source="MONDO:Redundant"} ! inflammatory disease is_a: MONDO:0003276 {source="DOID:10754", source="MONDO:Redundant", source="NCIT:C34885"} ! middle ear disorder relationship: EFO:0000784 UBERON:0001756 ! has_disease_location middle ear property_value: exactMatch DOID:10754 property_value: exactMatch http://identifiers.org/mesh/D010033 property_value: exactMatch http://identifiers.org/snomedct/65363002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029882 property_value: exactMatch NCIT:C34885 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000589 "otitis media (disease)" xsd:string [Term] id: EFO:0004993 name: serum IgM measurement def: "Is a quantification of immunoglobulin M, an antibody produced by B cells. IgM measurements are useful for detecting or monitoring of monoclonal gammopathies and immune deficiencies." [] synonym: "IgM levels" EXACT [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:0002616 ! is_about macroglobulinemia property_value: definition:citation http://labtestsonline.org.uk/understanding/analytes/immunoglobulins/tab/test/ xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004994 name: lumbar disc degeneration def: "Any disease of a degenerative nature that affects the intervertebral disk." [NCIT:C26983] def: "lumbar disc degeneration is a degeneration of one or more intervertebral disc(s) of the spine." [] synonym: "cervical disc degenerative disease" NARROW OMO:0003005 [] synonym: "cervical disk degenerative disease" NARROW [DOID:90, NCIT:C27156] synonym: "degenerative disc disease" EXACT OMO:0003005 [] synonym: "degenerative disc disorder" EXACT [] synonym: "degenerative disk disease" EXACT [DOID:90] synonym: "degenerative disorder of intervertebral disc" EXACT OMO:0003005 [] synonym: "degenerative disorder of intervertebral disk" EXACT [MONDO:design_pattern] synonym: "IDD" EXACT ABBREVIATION [OMIM:603932] synonym: "intervertebral Disc Degeneration" EXACT [NCIT:C26983] synonym: "intervertebral disc degeneration" EXACT OMO:0003005 [] synonym: "intervertebral Disc degenerative disease" EXACT [NCIT:C26983] synonym: "intervertebral Disc degenerative disorder" EXACT [NCIT:C26983] synonym: "intervertebral disc disease" EXACT OMO:0003005 [] synonym: "intervertebral disk degeneration" EXACT [DOID:90] synonym: "intervertebral disk degenerative disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "intervertebral disk degenerative disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "intervertebral disk disease" EXACT [MONDO:Lexical, OMIM:603932] synonym: "lumbar disc degeneration" NARROW OMO:0003005 [] synonym: "lumbar disk degeneration" NARROW [DOID:90] synonym: "vertebral Disc degenerative disease" EXACT [NCIT:C26983] synonym: "vertebral Disc degenerative disorder" EXACT [NCIT:C26983] synonym: "vertebral disc disease" EXACT OMO:0003005 [] synonym: "vertebral disk disease" EXACT [DOID:90] xref: DOID:90 {source="EFO:0004994", source="MONDO:equivalentTo"} xref: ICD9:722.6 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10024991 xref: MeSH:C535531 xref: MESH:D055959 {source="MONDO:equivalentTo"} xref: MONDO:0011385 xref: NCIT:C26983 {source="MONDO:equivalentTo"} xref: OMIM:603932 {source="MONDO:equivalentTo"} xref: SCTID:77547008 {source="MONDO:equivalentTo"} xref: UMLS:C0158266 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: EFO:0009477 ! vertebral joint disease is_a: MONDO:0000812 {source="MESH:D055959"} ! vertebral column disorder property_value: exactMatch DOID:90 property_value: exactMatch http://identifiers.org/mesh/D055959 property_value: exactMatch http://identifiers.org/snomedct/77547008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0158266 property_value: exactMatch https://omim.org/entry/603932 property_value: exactMatch NCIT:C26983 property_value: excluded_subClassOf MONDO:0000834 {source="DOID:90"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5633 xsd:anyURI [Term] id: EFO:0004995 name: lean body mass def: "The weight of all organs and tissue in an individual less the weight of the individual's body fat." [] xref: NCIt:C71258 xref: SNOMEDCT:248362003 is_a: EFO:0004302 ! anthropometric measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004996 name: type 1 diabetes nephropathy def: "Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 1 diabetes hyperglycaemia starts in the first decades of life and is usually the only recognized cause of nephropathy." [] is_a: EFO:0000401 ! diabetic nephropathy is_a: EFO:1002003 ! hypersensitivity reaction disease property_value: definition:citation "Ruggenenti P and Remuzzi G (2000) Nephropathy of type 1 and type 2 diabetes: diverse pathophysiology, same treatment? Nephrology Dialysis Transplantation Volume 15, Issue 12Pp. 1900-1902." xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004997 name: type 2 diabetes nephropathy def: "Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 2 diabetes hyperglycaemia starts after the forties, usually when the kidneys have already suffered the long‐term consequences of ageing and of other recognized promoters of chronic renal injury such as arterial hypertension, obesity, dyslipidaemia, and smoking." [] is_a: EFO:0000401 ! diabetic nephropathy property_value: definition:citation "Ruggenenti P and Remuzzi G (2000) Nephropathy of type 1 and type 2 diabetes: diverse pathophysiology, same treatment? Nephrology Dialysis Transplantation Volume 15, Issue 12Pp. 1900-1902." xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0004998 name: carbohydrate measurement def: "The quantification of some carbohydrate, typically obtained from an individual with the intention of using the measurement in some diagnostic process." [] xref: SNOMEDCT:5638008 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0004999 name: N-glycan measurement def: "The quantification of N-glycans in a plasma sample." [] synonym: "N-glycan level" EXACT [] is_a: EFO:0004998 ! carbohydrate measurement relationship: IAO:0000136 CHEBI:18154 ! is_about polysaccharide property_value: definition:citation "Dani Welter" xsd:string property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0005000 name: leptin measurement def: "Quantification of leptin, a hormone made by adipocytes with a role in the regulation of energy balance. " [] xref: NCIt:C74866 xref: SNOMEDCT:117694008 is_a: EFO:0004730 ! hormone measurement is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 EFO:0001073 ! is_about obesity relationship: IAO:0000136 EFO:0003199 ! is_about leptin property_value: definition:citation https://en.wikipedia.org/wiki/Leptin xsd:string property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0005001 name: phenylalanine measurement def: "The quantification of some phenylalanine, typically obtained from an individual with the intention of using the measurement in some diagnostic process. For example in the diagnosis of phenylkenonuria (PKU)" [] xref: NCIt:C81280 xref: SNOMEDCT:76819007 is_a: EFO:0005134 ! amino acid measurement relationship: IAO:0000136 CHEBI:28044 ! is_about phenylalanine property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005002 name: lysine measurement def: "The quantification of some lysine, typically obtained from an individual with the intention of using the measurement in some diagnostic process." [] xref: SNOMEDCT:104796004 is_a: EFO:0005134 ! amino acid measurement relationship: IAO:0000136 CHEBI:25094 ! is_about lysine property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005016 name: 454 Sequencing def: "454 sequencing is a DNA sequencing using 454 technology from Roche, which allows sequencing of a single strand of DNA by synthesizing the complementary strand along it, one base pair at a time, and detecting which base was actually added at each step. The template DNA is immobilized, and solutions of A, C, G, and T nucleotides are added and removed after the reaction, sequentially. Light is produced only when the nucleotide solution complements the first unpaired base of the template. The sequence of solutions which produce chemiluminescent signals allows the determination of the sequence of the template. ssDNA template is hybridized to a sequencing primer and incubated with the enzymes DNA polymerase, ATP sulfurylase, luciferase and apyrase, and with the substrates adenosine 5-prime phosphosulfate (APS) and luciferin." [] synonym: "pyrosequencing" EXACT [] xref: NCIt:C99481 is_a: EFO:0001456 ! DNA assay is_a: EFO:0003740 ! assay by sequencer relationship: RO:0000057 EFO:0003739 ! has_participant sequencer property_value: definition:citation http://purl.obolibrary.org/obo/OBI_0000730 xsd:string [Term] id: EFO:0005017 name: non polyA RNA def: "A RNA extract that is the output of an extraction process in which RNA molecules without poly A tail at its 3’ end are purified." [] synonym: "non poly adenylated RNA" EXACT [] is_a: CHEBI:33697 ! ribonucleic acid property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0005018 name: long non polyA RNA def: "A fractionylated RNA separated on the basis of length of the RNA molecule and adenylation state, typically 'long' refers to a transcript of 200nt plus in length (Meijer et al, http://genomebiology.com/2011/12/2/R16)" [] is_a: EFO:0005017 ! non polyA RNA property_value: definition:citation "Meijer et al, http://genomebiology.com/2011/12/2/R16" xsd:string property_value: definition:citation "poly(A)+ RNA" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0005019 name: long poly A RNA def: "A fraction of poly-adenylated RNA separated on the basis of length of the RNA molecule and adenylation state, typically 'long' refers to a transcript of 200nt plus in length (Meijer et al, http://genomebiology.com/2011/12/2/R16)" [] synonym: "poly(A)- RNA" EXACT [] is_a: OBI:0000869 ! polyA RNA property_value: definition:citation "Meijer et al, http://genomebiology.com/2011/12/2/R16" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0005020 name: collection latitude def: "The latitude at which a sample was obtained. For example a sea water sample." [] is_a: OBI:0001620 ! latitude property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0005021 name: collection longitude def: "The longitude at which a sample was obtained. For example a sea water sample." [] is_a: OBI:0001621 ! longitude property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0005023 name: adipose tissue derived mesenchymal stem cell def: "An adult mesenchymal stem cell derived from adipose tisssue." [] synonym: "hMSC-AT" EXACT [] synonym: "human mesenchymal stem cell from adipose tissue" EXACT [] is_a: EFO:0000586 ! mesenchymal stem cell relationship: RO:0001000 UBERON:0001013 ! derives_from adipose tissue property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0005024 name: placental pericyte def: "A pericyte derived from the placenta." [] synonym: "hPC-PL" EXACT [] synonym: "human pericytes from placenta" EXACT [] is_a: CL:0000669 ! pericyte property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0005027 name: anti-Bcl11a def: "Anti-Bcl11a Antibody is used as B-cell lymphoma/leukemia 11A antibody\nSpecies: Human, Vertebrates\nGene: BCL11A ENSG00000119866" [] synonym: "Bcl11a" EXACT [] is_a: EFO:0000541 ! immunoprecipitate property_value: definition:citation http://www.bethyl.com/product/A300-380A/Bcl11a_Antibody?referrer=Bcl11a xsd:string property_value: IAO:0000117 "Natalja Kurbatova" xsd:string [Term] id: EFO:0005028 name: anti-H3K27-3Me def: "Anti-trimethyl-Histone H3 (Lys27) Antibody\nSpecies: Human, Mouse\nGene: HIST3H3 ENSG00000168148" [] synonym: "H3K27-3Me" EXACT [] is_a: EFO:0000541 ! immunoprecipitate property_value: definition:citation http://www.millipore.com/catalogue/item/07-449 xsd:string property_value: IAO:0000117 "Natalja Kurbatova" xsd:string [Term] id: EFO:0005029 name: anti-H3k4-3Me def: "Anti-trimethyl-Histone H3 (Lys4) Antibody\nSpecies: Human, Vertebrates\nGene: HIST3H3 ENSG00000168148" [] synonym: "H3k4-3Me" EXACT [] is_a: EFO:0000541 ! immunoprecipitate property_value: definition:citation http://www.millipore.com/catalogue/item/07-473 xsd:string property_value: IAO:0000117 "Natalja Kurbatova" xsd:string [Term] id: EFO:0005030 name: anti-IgG def: "Anti-IgG Antibody. Immunoglobulin G antibodies are available in different forms on the market. General features: activate mammalian complements, bind to protein A or protein G." [] synonym: "IgG" EXACT [] xref: MeSH:C048844 xref: NCIt:C568 is_a: EFO:0000541 ! immunoprecipitate property_value: IAO:0000117 "Natalja Kurbatova" xsd:string [Term] id: EFO:0005031 name: input DNA def: "Label for the immunoprecipitate when control assays are used for ChIP-seq experiments. Means that non-ChIP genomic DNA has been used to identify and adjust for sequencing biases." [] is_a: EFO:0000541 ! immunoprecipitate property_value: definition:citation http://www.biomedcentral.com/1741-7007/8/56 xsd:string property_value: IAO:0000117 "Natalja Kurbatova" xsd:string [Term] id: EFO:0005032 name: IP-seq def: "IP-seq is an assay in which immunoprecipitation with high throughput sequencing is used to identify the DNA/RNA-associated proteins or protein complexes.\nAs an immunoprecipitation it can be ChIP, RIP or another immunoprecipitation process." [] is_a: EFO:0002697 ! assay by high throughput sequencer is_a: OBI:0001700 ! immunoprecipitation assay relationship: RO:0000057 EFO:0002699 ! has_participant high throughput sequencer property_value: IAO:0000117 "Natalja Kurbatova" xsd:string [Term] id: EFO:0005033 name: RIP def: "RNA Immunoprecipitation (RIP) is an experimental process used to investigate the interaction between proteins and RNA in the cell via the immunoprecipitation with an antibody that targets the protein of interest.\nBy isolating the protein, the RNA will also be isolated as it is bound to the protein. The purified RNA-protein complexes can be separated by performing an RNA extraction and the identity of the RNA can be determined by cDNA sequencing or RT-PCR." [] synonym: "RNA immunoprecipitation" EXACT [] synonym: "RNA-IP" EXACT [] is_a: OBI:0001700 ! immunoprecipitation assay relationship: part_of EFO:0004184 ! nucleic acid library construction protocol property_value: definition:citation http://en.wikipedia.org/wiki/Immunoprecipitation xsd:string property_value: IAO:0000117 "Natalja Kurbatova" xsd:string [Term] id: EFO:0005034 name: anti-CTCF def: "Anti-CTCF antibody\nSpecies: Human, Mouse, Rat, Primate, Canine (depends on vendor)\nGene: CTCF ENSG00000102974" [] is_a: EFO:0000541 ! immunoprecipitate property_value: definition:citation http://www.millipore.com/catalogue/item/07-729 xsd:string property_value: IAO:0000117 "Natalja Kurbatova" xsd:string [Term] id: EFO:0005035 name: hippocampal volume def: "Measurement of the volume of the hippocampus" [] is_a: EFO:0006848 ! mental or behavioural disorder biomarker is_a: EFO:0006930 ! brain volume measurement relationship: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder relationship: IAO:0000136 EFO:0001715 ! is_about volume relationship: IAO:0000136 MA:0000191 ! is_about hippocampus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005036 name: platelet measurement def: "A measurement quantifying some platelet" [] is_a: EFO:0004503 ! hematological measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 CL:0000233 ! is_about platelet property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005037 name: aortic root size def: "The aortic root size is the size of the part of the ascending aorta beginning at the aortic annulus and extending to the sinotubular junction" [] is_a: EFO:0005278 ! cardiovascular disease biomarker measurement is_a: EFO:0020865 ! aortic measurement relationship: IAO:0000136 EFO:0005775 ! is_about aortic disease relationship: IAO:0000136 UBERON:0000947 ! is_about aorta property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005038 name: hair morphology def: "Any measurable or observable characteristic related to the shape, structure, color, or pattern of the fine, keratinized filamentous growths arising from the epidermis of mammals." [] is_a: EFO:0000651 ! phenotype property_value: definition:citation http://purl.obolibrary.org/obo/VT_0000367 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005039 name: hippocampal atrophy def: "Atrophy of the hippocampus as a result of some external stress or disease" [] xref: MedDRA:10081973 is_a: EFO:0009386 ! central nervous system disease is_a: EFO:1000096 ! Atrophy relationship: EFO:0000784 MA:0000191 ! has_disease_location hippocampus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005040 name: obsolete_response to temozolomide def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a temozolomide stimulus. temozolomide is a an alkyalting/methylating agent used in the treatment of glioblastoma multiforme and melanoma." [] property_value: definition:citation http://en.wikipedia.org/wiki/Temozolomide xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replaced by a GO import" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/GO_1990054 [Term] id: EFO:0005043 name: cardiac troponin T measurement def: "Is a quantification of cardiac troponin T, typically measured in blood. Cardiac troponin T measurements are used as a marker of cardiac muscle damage and used in the diagnosis of myocardial infarction." [] synonym: "cardiac troponin T level" EXACT [] synonym: "cardiac troponin T levels" EXACT [] synonym: "hs-cTnT levels" EXACT [] is_a: EFO:0004311 ! heart function measurement is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease relationship: IAO:0000136 UBERON:0000948 ! is_about heart property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0005044 name: Leishmaniasis def: "Infectious disease that is transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration)." [Orphanet:507] def: "Leishmaniasis is a disease caused by protozoan parasites that belong to the genus Leishmania and is transmitted by the bite of certain species of sand fly (subfamily Phlebotominae)." [] subset: ordo_disease {source="Orphanet:507"} synonym: "cutaneous leishmaniasis (subtype)" RELATED [GARD:0006881] synonym: "leishmaniasis" EXACT [] {comment="preferred label from MONDO"} synonym: "post kala-Azar dermal leishmaniasis" RELATED [DOID:9065, NCIT:C34936] synonym: "post-kala-azar dermal infectious disease by leishmaniasis" RELATED [DOID:9065] synonym: "post-kala-azar dermal leishmaniasis" RELATED [DOID:9065] synonym: "visceral leishmaniasis (subtype)" RELATED [GARD:0006881] xref: DOID:9065 {source="MONDO:equivalentTo", source="EFO:0005044"} xref: ICD10:B55 xref: ICD10CM:B55 {source="MONDO:equivalentTo", source="DOID:9065"} xref: ICD9:085 {source="DOID:9065", source="EFO:0005044"} xref: ICD9:085.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9065"} xref: MedDRA:10024198 {source="Orphanet:507", source="Orphanet:507/e"} xref: MedDRA:10024201 xref: MESH:D007896 {source="MONDO:equivalentTo", source="DOID:9065", source="Orphanet:507", source="EFO:0005044", source="Orphanet:507/e"} xref: MeSH:D007896 xref: MONDO:0011989 xref: NCIT:C34767 {source="MONDO:equivalentTo", source="DOID:9065", source="EFO:0005044"} xref: NCIt:C34767 xref: Orphanet:507 {source="OMIM:608207", source="MONDO:equivalentTo"} xref: SCTID:80612004 {source="MONDO:equivalentTo", source="DOID:9065", source="EFO:0005044"} xref: SNOMEDCT:80612004 xref: UMLS:C0023281 {source="MONDO:equivalentTo", source="DOID:9065", source="Orphanet:507", source="NCIT:C34767", source="Orphanet:507/e"} is_a: MONDO:0002428 {source="DOID:9065", source="MESH:D007896/inferred"} ! protozoa infectious disease is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare property_value: closeMatch http://identifiers.org/meddra/10024198 property_value: definition:citation http://en.wikipedia.org/wiki/Leishmaniasis xsd:string property_value: exactMatch DOID:9065 property_value: exactMatch http://identifiers.org/mesh/D007896 property_value: exactMatch http://identifiers.org/snomedct/80612004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023281 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B55 property_value: exactMatch NCIT:C34767 property_value: exactMatch Orphanet:507 property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0005045 name: visceral Leishmaniasis def: "A severe form of leishmaniasis characterized by irregular bouts of fever, substantial weight loss, swelling of the spleen and liver, and anemia (which may be serious). If left untreated it may lead to death. Two species of Leishmania are known to give rise to the visceral form of the disease. The species commonly found in East Africa and the Indian subcontinent is L. donovani and the species found in Europe, North Africa, and Latin America is L. infantum, also known as L. chagasi." [https://www.who.int/leishmaniasis/visceral_leishmaniasis/en/, Wikipedia:Visceral_leishmaniasis] def: "Is a parasitic infection caused by protozoan parasites of the Leishmania genus. The parasites migrate to internal organs causing a severe form of the disease." [] comment: Editor note: split out susceptibility/PS synonym: "infection by visceral leishmaniasis" EXACT [DOID:9146] synonym: "kala-azar" EXACT [DOID:9146, NCIT:C34771] synonym: "kala-azar susceptibility" RELATED [OMIMPS:608207] synonym: "kala-azar, susceptibility to" RELATED [OMIMPS:608207] synonym: "visceral leishmaniasis" EXACT [] {comment="preferred label from MONDO"} synonym: "viscus leishmaniasis" EXACT [MONDO:patterns/location] synonym: "VL" EXACT [] xref: DOID:9146 {source="MONDO:equivalentTo", source="EFO:0005045"} xref: ICD10CM:B55.0 {source="MONDO:equivalentTo", source="DOID:9146"} xref: ICD9:085.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9146"} xref: MedDRA:10047505 xref: MESH:D007898 {source="MONDO:equivalentTo", source="DOID:9146"} xref: MONDO:0005445 xref: NCIT:C34771 {source="MONDO:equivalentTo", source="DOID:9146"} xref: OMIMPS:608207 {source="MONDO:equivalentTo"} xref: SCTID:186803007 {source="MONDO:equivalentTo", source="DOID:9146", source="EFO:0005045"} xref: SNOMEDCT:186803007 xref: UMLS:C0023290 {source="MONDO:equivalentTo", source="NCIT:C34771", source="DOID:9146"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0005044 {source="DOID:9146", source="EFO:0005045", source="ICD10CM:B55.0", source="MESH:D007898", source="MONDO:Redundant", source="NCIT:C34771"} ! Leishmaniasis property_value: exactMatch DOID:9146 property_value: exactMatch http://identifiers.org/mesh/D007898 property_value: exactMatch http://identifiers.org/snomedct/186803007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023290 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B55.0 property_value: exactMatch https://omim.org/phenotypicSeries/PS608207 property_value: exactMatch NCIT:C34771 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0005046 name: cutaneous Leishmaniasis def: "Is a parasitic infection of the skin caused by the Leishmania protozoan parasite" [] def: "Leishmaniasis affecting the skin. It is the most common form of leishmaniasis. It presents with erythematous macules and papules, and nodules which may eventually ulcerate. The lesions appear in the bite site in the exposed skin areas." [NCIT:P378] synonym: "Asian desert cutaneous leishmaniasis" EXACT [DOID:9111, NCIT:C34770] synonym: "cutaneous leishmaniasis" EXACT [] {comment="preferred label from MONDO"} synonym: "leproid leishmaniasis" EXACT [DOID:9111] synonym: "zone of skin leishmaniasis" EXACT [MONDO:patterns/location] xref: DOID:9111 {source="EFO:0005046", source="MONDO:equivalentTo"} xref: ICD10CM:B55.1 {source="MONDO:equivalentTo", source="DOID:9111"} xref: ICD9:085.2 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10011668 xref: MedDRA:10011669 xref: MedDRA:10011670 xref: MedDRA:10011671 xref: MedDRA:10011672 xref: MESH:D016773 {source="MONDO:equivalentTo", source="DOID:9111"} xref: MONDO:0005446 xref: NCIT:C34768 {source="EFO:0005046", source="MONDO:equivalentTo", source="DOID:9111"} xref: NCIt:C34768 xref: NCIT:C34770 {source="MONDO:equivalentTo"} xref: SCTID:186807008 {source="MONDO:equivalentTo"} xref: SNOMEDCT:240637006 xref: UMLS:C0023283 {source="MONDO:equivalentTo", source="DOID:9111"} is_a: EFO:0005044 {source="DOID:9111", source="EFO:0005046", source="ICD10CM:B55.1", source="MESH:D016773", source="MONDO:Redundant", source="NCIT:C34770/inferred"} ! Leishmaniasis is_a: MONDO:0024610 ! parasitic skin disorder property_value: exactMatch DOID:9111 property_value: exactMatch http://identifiers.org/mesh/D016773 property_value: exactMatch http://identifiers.org/snomedct/186807008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023283 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B55.1 property_value: exactMatch NCIT:C34768 property_value: exactMatch NCIT:C34770 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0005047 name: erythrocyte measurement def: "Is a quantification of some aspect of erythrocyte function, quantity, or composition." [] synonym: "red blood cell measurement" EXACT [] is_a: EFO:0004503 ! hematological measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 CL:0000232 ! is_about erythrocyte property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0005051 name: 454 GS 20 standard manufacturer's protocol def: "The standard protocol supplied by the manufacturer of the 454 GS 20 sequencer for nucleic acid sequencing protocol." [] is_a: EFO:0004170 ! nucleic acid sequencing protocol relationship: IAO:0000136 EFO:0004206 ! is_about 454 GS 20 sequencer [Term] id: EFO:0005052 name: nervous system measurement is_a: EFO:0001444 ! measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 UBERON:0001016 ! is_about nervous system [Term] id: EFO:0005053 name: internal carotid intimal medial thickness def: "Is a quantification of the internal carotid intimal medial thickness." [] is_a: EFO:0005278 ! cardiovascular disease biomarker measurement is_a: EFO:0007117 ! carotid artery intima media thickness relationship: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005054 name: QRS complex def: "A QRS complex is a combination of the three electrocardiographical measurements of the Q, R and S waves in the heart's electrical cycle. It corresponds to the depolarization of the right and left ventricles of the human heart. The QRS complex can be further classified into a set of parameters, including QRS duration, QRS amplitude and ventricular activation time (VAT)." [] xref: MedDRA:10037693 xref: MedDRA:10058099 xref: NCIt:C41329 is_a: EFO:0004327 ! electrocardiography relationship: IAO:0000136 UBERON:0004535 ! is_about cardiovascular system property_value: definition:citation https://en.wikipedia.org/wiki/QRS_complex xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005055 name: QRS duration def: "QRS duration is a measurement of the combined duration of the Q, R and S waves of the human heart's electric cycle" [] synonym: "QRS interval" EXACT [] is_a: EFO:0000719 ! temporal measurement is_a: EFO:0004327 ! electrocardiography relationship: IAO:0000136 UBERON:0004535 ! is_about cardiovascular system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005056 name: age at death def: "The age at which death occurs." [] is_a: EFO:0000246 ! age property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005057 name: myoglobin measurement def: "The determination of the amount of myoglobin present in a sample, usually blood" [] xref: NCIt:C79436 xref: SNOMEDCT:33606006 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005058 name: tyrosine measurement def: "The quantification of some tyrosine, typically obtained from an individual with the intention of using the measurement in some diagnostic process." [] xref: SNOMEDCT:84796003 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005059 name: acylcarnitine measurement def: "The quantification of some acylcarnitine, typically obtained from the blood of an individual with the intention of using the measurement in some diagnostic process. The test is used in the diagnosis of iherited fatty acid metabolic disorders. " [] xref: SNOMEDCT:104465009 is_a: EFO:0004725 ! metabolite measurement property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/21207283 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005060 name: instrument part def: "Any component which is used as part of an instrument. The part may be considered an instrument in it's own right (such as a thermometer which is part of a kiln) - instrument parts are not disjoint from instruments." [] synonym: "instrument component" EXACT [] is_a: BFO:0000040 ! material entity property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0005061 name: substrate def: "A substrate is the surface on which material, such as an organism, is grown or attached." [] xref: NCIt:C120264 is_a: EFO:0005060 ! instrument part property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0005062 name: glass substrate def: "A subtrate made of glass." [] is_a: EFO:0005061 ! substrate [Term] id: EFO:0005063 name: nylon substrate def: "A substrate made on a nylon membrane." [] is_a: EFO:0005061 ! substrate [Term] id: EFO:0005064 name: nitrocellulose substrate def: "A substrate made of nitrocellulose." [] is_a: EFO:0005061 ! substrate [Term] id: EFO:0005065 name: silicon substrate def: "Substrate made of silicon." [] is_a: EFO:0005061 ! substrate [Term] id: EFO:0005066 name: collection of material def: "A grouping of some materials, including whole organisms or samples. Does not necessitate that the grouping is related in some way, so can include any arbitrary collection of materials." [] is_a: BFO:0000040 ! material entity property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0005067 name: block def: "A block or batch is an experimental unit arrangement into a group which is similar to one another. Typically, a blocking factor is a source of variability that is not of primary interest to the experimenter. An example of a blocking factor might be the sex of a patient; by blocking on sex, this source of variability is controlled for, thus leading to greater accuracy." [] synonym: "batch" EXACT [] xref: NCIt:C25436 xref: NCIt:C48949 xref: NCIt:C61286 xref: NCIt:C86947 is_a: EFO:0005066 ! collection of material property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0005069 name: array surface coating def: "The surface used to coat the array substrate." [] xref: MO:198 is_a: EFO:0005060 ! instrument part property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0005070 name: aminosilane substrate coating def: "An array substrate coating formed using aminosilane." [] xref: MO:747 is_a: EFO:0005069 ! array surface coating property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0005071 name: polylysine substrate coating def: "An array substrate coating formed using polylysine." [] xref: MO:569 is_a: EFO:0005069 ! array surface coating property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0005072 name: array reporter def: "A reporter (sometimes 'probe' or 'oligo') is material such as single stranded DNA or an antibody, usually at a particular location on an array, onto which target material of interest is hybridized and quantified." [] synonym: "array oligo" EXACT [] synonym: "array probe" EXACT [] is_a: EFO:0005060 ! instrument part relationship: part_of EFO:0002698 ! array property_value: IAO:0000117 "Eleanor Williams" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0005073 name: in situ oligo def: "A type of reporter which is created using in situ methods." [] synonym: "in situ oligo probe" EXACT [] xref: MO:514 is_a: EFO:0005072 ! array reporter [Term] id: EFO:0005074 name: spotted antibody reporter def: "Type of array reporter which is formed from antibodies being spotted directly on to the array surface." [] xref: MO:483 is_a: EFO:0005077 ! spotted protein reporter [Term] id: EFO:0005075 name: spotted colony reporter def: "Type of array reporter formed from colonies (such as bacteria) are spotted directly on to the array surface." [] xref: MO:618 is_a: EFO:0005072 ! array reporter [Term] id: EFO:0005076 name: spotted double stranded DNA reporter def: "An array reporter formed from directly spotting double stranded DNA on to the array surface." [] xref: MO:499 is_a: EFO:0005072 ! array reporter [Term] id: EFO:0005077 name: spotted protein reporter def: "Type of array reporter which is formed from proteins being spotted directly on to the array surface." [] xref: MO:996 is_a: EFO:0005072 ! array reporter [Term] id: EFO:0005078 name: spotted single stranded DNA PCR amplicon reporter def: "An array reporter created by directly spotting a single stranded DNA PCR product on to the array surface." [] xref: MO:921 is_a: EFO:0005072 ! array reporter [Term] id: EFO:0005079 name: spotted single stranded oligo reporter def: "An array reporter created by directly spotting single stranded oligonucleotides on to the array surface." [] xref: MO:579 is_a: EFO:0005072 ! array reporter [Term] id: EFO:0005080 name: CC16 measurement def: "Quantification of the pneumoprotein CC16 or clara cell secreted protein . CC16 plays an important protective role in the respiratory tract against oxidative stress and inflammatory response. CC16 is used peripheral lung marker for assessing the cellular integrity or the permeability of the lung epithelium and serum CC16 is increased serum in acute or chronic lung disorders characterized by an increased airways permeability." [] synonym: "Clara cell secretory protein" EXACT [] is_a: EFO:0006841 ! respiratory disease biomarker relationship: IAO:0000136 EFO:0000684 ! is_about respiratory system disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005081 name: surfactant protein D measurement def: "quantification of the pneumoprotein surfactant protein D. This protein is an innate immune protein and plays a role in pulmonary host defence and the modulation of allergic responses. Several human lung diseases are characterized by decreased levels of bronchoalveolar SP-D." [] synonym: "SP-D measurement" EXACT [] xref: NCIt:C111322 is_a: EFO:0006841 ! respiratory disease biomarker relationship: IAO:0000136 EFO:0003818 ! is_about lung disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005082 name: Illumina Genome Analyzer standard manufacturer's protocol def: "The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer sequencer for nucleic acid sequencing protocol." [] is_a: EFO:0004170 ! nucleic acid sequencing protocol relationship: IAO:0000136 EFO:0004200 ! is_about Illumina Genome Analyzer [Term] id: EFO:0005083 name: Illumina Genome Analyzer II standard manufacturer's protocol def: "The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer II sequencer for nucleic acid sequencing protocol." [] is_a: EFO:0004170 ! nucleic acid sequencing protocol relationship: IAO:0000136 EFO:0004201 ! is_about Illumina Genome Analyzer II [Term] id: EFO:0005084 name: Illumina Genome Analyzer IIx standard manufacturer's protocol def: "The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer IIx sequencer for nucleic acid sequencing protocol." [] is_a: EFO:0004170 ! nucleic acid sequencing protocol relationship: IAO:0000136 EFO:0004202 ! is_about Illumina Genome Analyzer IIx [Term] id: EFO:0005085 name: Illumina HiSeq 1000 standard manufacturer's protocol def: "The standard protocol supplied by the manufacturer of the Illumina HiSeq 1000 sequencer for nucleic acid sequencing protocol." [] is_a: EFO:0004170 ! nucleic acid sequencing protocol relationship: IAO:0000136 EFO:0004204 ! is_about Illumina HiSeq 1000 [Term] id: EFO:0005086 name: Illumina HiSeq 2000 standard manufacturer's protocol def: "The standard protocol supplied by the manufacturer of the Illumina HiSeq 2000 sequencer for nucleic acid sequencing protocol." [] is_a: EFO:0004170 ! nucleic acid sequencing protocol relationship: IAO:0000136 EFO:0004203 ! is_about Illumina HiSeq 2000 [Term] id: EFO:0005087 name: Illumina MiSeq standard manufacturer's protocol def: "The standard protocol supplied by the manufacturer of the Illumina MiSeq sequencer for nucleic acid sequencing protocol." [] is_a: EFO:0004170 ! nucleic acid sequencing protocol relationship: IAO:0000136 EFO:0004205 ! is_about Illumina MiSeq [Term] id: EFO:0005088 name: testicular carcinoma def: "A carcinoma affecting the testis." [] def: "A primary or metastatic malignant neoplasm that affects the testis. Representative examples include seminoma, embryonal carcinoma, sarcoma, leukemia, and lymphoma." [NCIT:C7251] synonym: "cancer of testis" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of testis" EXACT [MONDO:patterns/cancer, NCIT:C7251] synonym: "malignant neoplasm of the testis" EXACT [NCIT:C7251] synonym: "malignant testicular neoplasm" EXACT [NCIT:C7251] synonym: "malignant testicular tumor" EXACT [NCIT:C7251] synonym: "malignant testicular tumour" EXACT OMO:0003005 [] synonym: "malignant testis neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of testis" EXACT [NCIT:C7251] synonym: "malignant tumor of the testis" EXACT [NCIT:C7251] synonym: "malignant tumour of testis" EXACT OMO:0003005 [] synonym: "malignant tumour of the testis" EXACT OMO:0003005 [] synonym: "paediatric testicular neoplasm" RELATED OMO:0003005 [] synonym: "testicular cancer" EXACT [] {comment="preferred label from MONDO"} synonym: "testicular tumor" BROAD [DOID:2998, NCIT:C3404] synonym: "testicular tumour" BROAD OMO:0003005 [] synonym: "testis cancer" EXACT [DOID:2998, MONDO:patterns/location] synonym: "testis neoplasm" BROAD [DOID:2998] xref: DOID:2998 {source="MONDO:equivalentTo", source="EFO:0005088"} xref: ICD10:C62 xref: ICD9:186 {source="DOID:2998"} xref: ICD9:186.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D013736 {source="MONDO:equivalentTo", source="DOID:2998"} xref: MONDO:0005447 xref: NCIT:C5053 {source="DOID:2998", source="MONDO:directSiblingOf"} xref: NCIT:C7251 {source="MONDO:equivalentTo", source="DOID:2998"} xref: SCTID:363449006 {source="MONDO:equivalentTo", source="DOID:2998"} is_a: EFO:0000313 ! carcinoma is_a: EFO:0007355 {source="DOID:2998", source="MESH:D013736", source="MONDO:Redundant", source="NCIT:C7251"} ! male reproductive organ cancer is_a: MONDO:0021348 {source="MONDO:Redundant", source="NCIT:C7251"} ! neoplasm of testis property_value: exactMatch DOID:2998 property_value: exactMatch http://identifiers.org/mesh/D013736 property_value: exactMatch http://identifiers.org/snomedct/363449006 property_value: exactMatch NCIT:C7251 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005089 name: whole-brain volume def: "quantification of the total volume of the brain" [] is_a: EFO:0006930 ! brain volume measurement relationship: IAO:0000136 EFO:0001715 ! is_about volume relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005090 name: basophil count def: "quantification of basophils in the blood" [] def: "The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." [] synonym: "blood basophil count" EXACT [] xref: CMO:0000034 xref: CMO:0000111 xref: MedDRA:10049695 xref: SNOMEDCT:42351005 is_a: EFO:0004872 ! inflammatory biomarker measurement is_a: EFO:0007987 ! granulocyte count is_a: EFO:0803539 ! basophil measurement relationship: IAO:0000136 CL:0000081 ! is_about blood cell relationship: IAO:0000136 CL:0000767 ! is_about basophil relationship: IAO:0000136 GO:0006954 ! is_about inflammatory response property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005091 name: monocyte count def: "quantification of monocytes in the blood" [] xref: MedDRA:10027876 xref: NCIt:C64823 xref: SNOMEDCT:67776007 is_a: EFO:0004308 ! leukocyte count is_a: EFO:0803547 ! monocyte measurement relationship: IAO:0000136 CL:0000081 ! is_about blood cell relationship: IAO:0000136 CL:0000576 ! is_about monocyte property_value: definition:citation http://www.nlm.nih.gov/medlineplus/ency/article/003657.htm xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005092 name: entorhinal cortical volume def: "quantification of the volume of the entorhinal cortex" [] is_a: EFO:0006930 ! brain volume measurement relationship: IAO:0000136 EFO:0001715 ! is_about volume relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005093 name: hip circumference def: "circumferential measurement of the largest part of the hip" [] xref: NCIt:C100947 xref: SNOMEDCT:284472007 is_a: EFO:0004324 ! body weights and measures is_a: EFO:0004512 ! bone measurement relationship: IAO:0000136 UBERON:0001474 ! is_about bone element property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005094 name: P wave duration def: "measurement of the time from start to finish of the P wave, in the electrocardiograph illustrating the initial deflection of the cardiac cycle, representing the excitation of the atria." [] xref: SNOMEDCT:251204004 is_a: EFO:0004327 ! electrocardiography relationship: IAO:0000136 UBERON:0004535 ! is_about cardiovascular system property_value: definition:citation https://en.wikipedia.org/wiki/P_wave_(electrocardiography) xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005095 name: PR segment def: "measurement of the interval from the offset of the P wave to the onset of the QRS wave complex" [] is_a: EFO:0004327 ! electrocardiography relationship: IAO:0000136 UBERON:0004535 ! is_about cardiovascular system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005096 name: obsolete_abdominal wall property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0003697 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0003697 [Term] id: EFO:0005097 name: obsolete_bronchiole property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0002186 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002186 [Term] id: EFO:0005098 name: obsolete_cortical collecting duct def: "The cortical collecting duct is the portion of the collecting duct that resides in the renal cortex" [] property_value: definition:citation http://purl.obolibrary.org/obo/UBERON_0004203 xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with UBERON_0004203" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0004203 [Term] id: EFO:0005099 name: obsolete_stele def: "A cardinal organ part that is the central column of a plant axis that consists of the primary vascular tissue and associated ground tissue." [] property_value: definition:citation http://purl.obolibrary.org/obo/PO_0025197 xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with PO_0025197" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0025197 [Term] id: EFO:0005100 name: obsolete_flag leaf def: "The last mature leaf before the inflorescence in a cereal crop plant." [] property_value: definition:citation http://purl.obolibrary.org/obo/PO_0020103 xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with PO_0020103" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0020103 [Term] id: EFO:0005101 name: obsolete_anther def: "A collective plant organ structure (PO:0025007) that is the pollen-bearing part of a stamen (PO:0009029)" [] xref: NCIt:C79614 property_value: definition:citation http://purl.obolibrary.org/obo/PO_0009066 xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with PO_0009066" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0009066 [Term] id: EFO:0005102 name: obsolete_filament property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/PO_0009067 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0009067 [Term] id: EFO:0005103 name: obsolete_antennal disc property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_6001767 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_6001767 [Term] id: EFO:0005104 name: obsolete_eye disc property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/FBbt_00001768 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/FBbt_00001768 [Term] id: EFO:0005105 name: lipid or lipoprotein measurement def: "quantification of some lipid or lipoprotein" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005106 name: body composition measurement def: "measurement of the percentages of fat, bone and muscle in human bodies" [] is_a: EFO:0004324 ! body weights and measures property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005107 name: obsolete_collective leaf structure synonym: "leaf whorl" EXACT [] synonym: "rosette" EXACT [] xref: PO:0025022 xref: SNOMEDCT:12170000 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.71" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "migrate to PO, refactored to use PO_0025022" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0025022 [Term] id: EFO:0005108 name: arm span def: "Distance between the tips of the longest fingers with the arms maximally outstretched laterally." [] is_a: EFO:0004324 ! body weights and measures property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005109 name: energy expenditure def: "energy expenditure is generally considered to be the sum of internal heat produced and external work through physical activity" [] xref: SNOMEDCT:251833007 is_a: GO:0008150 ! biological_process property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005110 name: fatty acid measurement def: "The determination of the amount of fatty acids present in a sample." [] xref: NCIt:C80157 xref: SNOMEDCT:313406008 is_a: EFO:0004529 ! lipid measurement relationship: IAO:0000136 CHEBI:35366 ! is_about fatty acid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005111 name: folic acid measurement def: "A measurement of the folic acid in a biological sample" [] synonym: "folate measurement" EXACT [] synonym: "vitamin B9 measurement" EXACT [] xref: NCIt:C74676 xref: SNOMEDCT:104660009 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:27470 ! is_about folic acid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005112 name: gestational age def: "The age of the conceptus, beginning from the time of FERTILIZATION. In clinical obstetrics, the gestational age is often estimated as the time from the last day of the last MENSTRUATION which is about 2 weeks before OVULATION and fertilization." [] xref: MeSH:D005865 is_a: EFO:0000246 ! age property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005114 name: head circumference def: "A circumferential measurement of the head at the widest point, which is traditionally above the eyebrow" [] xref: MedDRA:10060025 xref: NCIt:C81255 xref: SNOMEDCT:363812007 is_a: EFO:0004324 ! body weights and measures property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005115 name: metabolic rate measurement def: "a quantification of metabolic rate" [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 GO:0008152 ! is_about metabolic process property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005116 name: urinary metabolite measurement def: "quantification of some metabolite in urine" [] is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005117 name: CCL5 measurement def: "Is the quantification of Chemokine (C-C motif) ligand 5.\nCCL5 is a Chemoattractant for blood monocytes, memory T-helper cells and eosinophils. Causes the release of histamine from basophils and activates eosinophils. May activate several chemokine receptors including CCR1, CCR3, CCR4 and CCR5. One of the major HIV-suppressive factors produced by CD8+ T-cells. Recombinant RANTES protein induces a dose-dependent inhibition of different strains of HIV-1, HIV-2, and simian immunodeficiency virus (SIV). The processed form RANTES(3-68) acts as a natural chemotaxis inhibitor and is a more potent inhibitor of HIV-1-infection. The second processed form RANTES(4-68) exhibits reduced chemotactic and HIV-suppressive activity compared with RANTES(1-68) and RANTES(3-68) and is generated by an unidentified enzyme associated with monocytes and neutrophils (PubMed:16791620, PubMed:1380064, PubMed:8525373, PubMed:9516414, PubMed:15923218). May also be an agonist of the G protein-coupled receptor GPR75, stimulating inositol trisphosphate production and calcium mobilization through its activation. Together with GPR75, may play a role in neuron survival through activation of a downstream signaling pathway involving the PI3, Akt and MAP kinases. By activating GPR75 may also play a role in insulin secretion by islet cells (PubMed:23979485).\n" [] synonym: "RANTES" EXACT [] synonym: "Regulated on Activation, Normal T cell Expressed and Secreted" EXACT [] is_a: EFO:0004872 ! inflammatory biomarker measurement is_a: EFO:0004873 ! cytokine measurement property_value: definition:citation http://www.uniprot.org/uniprot/P13501 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005118 name: IGFBP-1 measurement def: "IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors. Promotes cell migration." [] is_a: EFO:0001444 ! measurement property_value: definition:citation http://www.uniprot.org/uniprot/P08833 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005119 name: antioxidant measurement def: "quantification of some antioxidant in a biological sample" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005121 name: freeze dried specimen def: "a specimen which is the output of some freeze drying process applied with the aim of perserving the specimen" [] is_a: OBI:0100051 ! specimen property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005125 name: RNAlater specimen def: "a specimen which has been treated with RNAlater, with the aim of preserving specimen RNA prior to extraction" [] is_a: OBI:0100051 ! specimen property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005126 name: arylesterase enzyme measurement def: "quantification of the activity of enzymes from the arylesterase family. Low measurements have been associated with cardiovascular risk - http://europepmc.org/abstract/MED/22982463" [] synonym: "paraoxonase enzyme measurement" EXACT [] is_a: EFO:0004747 ! protein measurement is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease relationship: IAO:0000136 OBI:0000427 ! is_about enzyme property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005127 name: cancer biomarker measurement def: "cancer biomarkers, such as cancer antigen 19-9, carcinoembryonic antigen and α fetoprotein, are used as indicators for cancer screening and as predictors for therapeutic responses and prognoses in cancer patient" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005128 name: albumin:globulin ratio measurement def: "quantification of the ratio of the protein albumin to globulin in the blood serum" [] synonym: "ALBGLOB" EXACT [] synonym: "Albumin to Globulin Ratio Measurement" EXACT [] synonym: "albumin-globulin ratio measurement" EXACT [] synonym: "Albumin/Globulin" EXACT [] xref: http://www.ebi.ac.uk/efo/EFO_0005128 xref: PMID:29403010 is_a: EFO:0004311 ! heart function measurement is_a: EFO:0004503 ! hematological measurement is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 EFO:0001421 ! is_about liver disease relationship: IAO:0000136 PR:000003918 ! is_about serum albumin relationship: IAO:0000136 UBERON:0000948 ! is_about heart property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005129 name: hepatitis C induced liver cirrhosis def: "liver injury resulting from hepatitis C infection" [] def: "Liver injury resulting from hepatitis C infection." [EFO:0005129] synonym: "hepatitis C induced liver cirrhosis" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0005448 is_a: EFO:0001422 {source="MONDO:Redundant", source="MONDO:cjm"} ! cirrhosis of liver is_a: MONDO:0017341 ! virus associated tumor intersection_of: EFO:0001422 ! cirrhosis of liver intersection_of: disease_arises_from_feature EFO:0003047 ! hepatitis C virus infection relationship: disease_arises_from_feature EFO:0003047 ! hepatitis C virus infection property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005130 name: thyroxine measurement def: "quantification of the thyroid hormone thyroxine (T4) in the blood, usually as an indicator of thyroid function" [] synonym: "FT4 levels" EXACT [] xref: SNOMEDCT:72765002 is_a: EFO:0004730 ! hormone measurement is_a: EFO:0005134 ! amino acid measurement relationship: IAO:0000136 CHEBI:30660 ! is_about thyroxine relationship: IAO:0000136 UBERON:0002046 ! is_about thyroid gland property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005131 name: HVA measurement def: "quantification of homovanillic acid (HVA) in cerebrospinal fluid. HVA/5-HIAA ratios may be used as biomarkers for suicidial behavior." [] def: "quantification of homovanillic acid in cerebrospinal fluid" [] is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder relationship: IAO:0000136 UBERON:0001017 ! is_about central nervous system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005132 name: 5-HIAA measurement def: "quantification of 5-hydroxyindoleacetic acid in cerebrospinal fluid or urine. 5-HIAA is a metabolite of serotonin.\n This measurement is performed during diagnosis of serotonin secreting neuroendocrine tumours.\nLow levels of 5-HIAA in the cerebrospinal fluid have been associated with aggressive behavior and suicide by violent means, correlating with diminished serotonin levels.\nElevated serotonin (hyperserotonemia) is one of the most common biological findings in autism[3] and 5-HIAA may be elevated in patients with autistic spectrum disorders." [] synonym: "5-Hydroxyindoleacetic acid measurement" EXACT [] xref: NCIt:C112217 xref: SNOMEDCT:104741005 is_a: EFO:0004725 ! metabolite measurement is_a: EFO:0005127 ! cancer biomarker measurement relationship: IAO:0000136 CHEBI:27823 ! is_about (5-hydroxyindol-3-yl)acetic acid relationship: IAO:0000136 UBERON:0001017 ! is_about central nervous system property_value: definition:citation https://en.wikipedia.org/wiki/5-Hydroxyindoleacetic_acid xsd:string property_value: definition:citation "www.ncbi.nlm.nih.gov/pubmed/25140149" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter, Helen Parkinson" xsd:string [Term] id: EFO:0005133 name: MHPG measurement def: "quantification of 3-methoxy-4-hydroxyphenylglycol in measured in urine, plasma or cerebrospinal fluid. MHPG is reported to be associated with neuropsychiatric disorders." [] is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder relationship: IAO:0000136 UBERON:0001017 ! is_about central nervous system property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/25709459 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005134 name: amino acid measurement def: "quantification of some amino acid in a biological assay" [] xref: NCIt:C81183 is_a: EFO:0001444 ! measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 CHEBI:33709 ! is_about amino acid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005135 name: strain def: "A population of organisms that is geneticaly different from others of the same species and possessing a set of defined characteristics." [] xref: NCIt:C95501 is_a: OBI:0000181 ! population property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0005136 name: cultivar def: "A cultivated plant variety selected and given a name because it has desirable characteristics that distinguish it from otherwise similar plants of the same species." [] is_a: OBI:0000181 ! population [Term] id: EFO:0005137 name: conduction system disorder def: "A conduction system disorder, or disease is a form of heart disease in which the electrical conduction system of the heart is disrupted, for example branch block" [] def: "A disease involving the conducting system of heart." [MONDO:patterns/location_top] comment: requested by James Ware synonym: "conducting system of heart disease" EXACT [MONDO:patterns/location] synonym: "conducting system of heart disease or disorder" EXACT [MONDO:patterns/location] synonym: "conduction system disease" EXACT [] synonym: "conduction system disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "disease of conducting system of heart" EXACT [MONDO:cjm, MONDO:patterns/location_top] synonym: "disease or disorder of conducting system of heart" EXACT [] synonym: "disorder of conducting system of heart" EXACT [MONDO:patterns/location_top] synonym: "heart conduction system disease" EXACT [] xref: ICD10:I45 xref: MONDO:0005449 is_a: MONDO:0003939 ! muscle tissue disorder is_a: MONDO:0024643 ! myocardial disorder property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0005138 name: acquired long QT syndrome def: "A form of long QT syndrome in which malfunction of the cardiac ion channels is caused by drugs or metabolic abnormalities. Common genetic variation may influence susceptibility to acquired long QT syndrome." [] comment: requested by James Ware xref: SNOMEDCT:442946007 is_a: EFO:0005137 ! conduction system disorder property_value: definition:citation http://ceaccp.oxfordjournals.org/content/8/2/67.full xsd:string property_value: IAO:0000117 "Helen Parkinson, James Ware" xsd:string [Term] id: EFO:0005139 name: serum ceruloplasmin measurement def: "Quantification of some ceruloplasmin in the blood. " [] def: "Quantification of some ceruloplasmin in the blood. Ceruloplasmin is a copper containing enzyme synthesized in tge liver that plays a role in iron metabolism and Copper ion transport. It is measured in combination with copper tests in the diagnosis of Wilson's disease. Ceruloplasmin is a copper containing enzyme that plays a role in iron metabolism measured in combination with copper tests in the diagnosis of Wilson's disease." [] synonym: "serum ceruloplasmin levels" EXACT [] xref: SNOMEDCT:270975004 is_a: EFO:0004742 ! renal system measurement is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 MONDO:0010200 ! is_about Wilson disease relationship: IAO:0000136 OBI:0000427 ! is_about enzyme property_value: definition:citation http://labtestsonline.org.uk/understanding/analytes/caeruloplasmin xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005140 name: autoimmune disease def: "Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." [] synonym: "autoimmunity" EXACT [] xref: http://purl.obolibrary.org/obo/OBI_1110054 xref: MedDRA:10003814 xref: NCIt:C2889 xref: OBI:OBI_1110054 xref: OMIM:613551 xref: OMIM:615952 xref: OMIM:617006 xref: SNOMEDCT:85828009 is_a: EFO:0000540 ! immune system disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0005147 name: Columbia ecotype def: "The Col or Columbia ecotype is an Arabidopsis thaliana ecotype, selected, by Redei, as it was a particularly fertile and vigorous plant that responded well to changes in photoperiod. The ecotype was selected from within a (nonirradiated) population of seeds named Landsberg he received from Laibach. Columbia is the ecotype sequenced in the Arabidopsis Genome Initiative." [] synonym: "Col" EXACT [] synonym: "Col ecotype" EXACT [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana relationship: part_of EFO:0000434 ! ecotype property_value: definition:citation http://arabidopsis.info/CollectionInfo?id=94 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0005148 name: Col-0 def: "Col-0 is an Arabidopsis ecotype and a direct descendant of Col-1 donated via AIS." [] synonym: "Columbia-0" EXACT [] is_a: EFO:0005147 ! Columbia ecotype property_value: definition:citation http://arabidopsis.info/CollectionInfo?id=94 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0005149 name: Col-1 def: "Col-1 is an Arabidopsis ecotype and the original AIS donation of Columbia (isolate 5-13) from George Redei." [] synonym: "Columbia-1" EXACT [] is_a: EFO:0005147 ! Columbia ecotype property_value: definition:citation http://arabidopsis.info/CollectionInfo?id=94 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0005150 name: Col-2 def: "Col-2 is an Arabidopsis ecotype and is a line that has been single seed selected from Col-1 and propagated through 5 generations of single seed descent by Shauna Somerville." [] synonym: "Columbia-2" EXACT [] is_a: EFO:0005147 ! Columbia ecotype property_value: definition:citation http://arabidopsis.info/CollectionInfo?id=94 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0005151 name: Col-3 def: "Col-3 is an Arabidopsis ecotype and a line that Elliot Meyerowitz used for the RFLP mapping data and has shown polymorphisms in the hands of Chris Somerville to Col-2. It is also one of the female parents used by Jim Beynon, Eric Holub and Ian Crute for the generation of their RI population (the other being glabrous Col-5)." [] synonym: "Columbia-3" EXACT [] is_a: EFO:0005147 ! Columbia ecotype property_value: definition:citation http://arabidopsis.info/CollectionInfo?id=94 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0005152 name: Col-4 def: "Col-4 is an Arabidopsis ecotype and is the line used as the parental for the recombinant inbred population of Caroline Dean." [] synonym: "Columbia-4" EXACT [] is_a: EFO:0005147 ! Columbia ecotype property_value: definition:citation http://arabidopsis.info/CollectionInfo?id=94 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0005153 name: Col-5 def: "Col-5 is an Arabidopsis ecotype and the glabrous (gl1-1) Columbia line used by Jim Beynon, Eric Holub and Ian Crute as one of the female parents (the other being Col-3) for the generation of their RI population." [] synonym: "Columbia-5" EXACT [] is_a: EFO:0005147 ! Columbia ecotype property_value: definition:citation http://arabidopsis.info/CollectionInfo?id=94 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0005154 name: Landsberg ecotype def: "Landsberg erecta ecotype is an Arabidopsis thaliana ecotype. It was originally selected by Rédei from within a Landsberg population on which he had performed some X-ray mutagenesis experiments." [] synonym: "Landsberg erecta" EXACT [] synonym: "Ler" EXACT [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana relationship: part_of EFO:0000434 ! ecotype property_value: definition:citation http://arabidopsis.info/CollectionInfo?id=94 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0005155 name: Ler-1 def: "Ler-1 is an Arabidopsis ecotype." [] is_a: EFO:0005154 ! Landsberg ecotype [Term] id: EFO:0005156 name: Wassilewskija ecotype def: "Wassilewskija is an Arabidopsis ecotype." [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana relationship: part_of EFO:0000434 ! ecotype [Term] id: EFO:0005157 name: Ws-1 def: "Ws-1 is an Arabidopsis ecotype." [] synonym: "Wassilewskija-1" EXACT [] is_a: EFO:0005156 ! Wassilewskija ecotype [Term] id: EFO:0005158 name: Ws-2 def: "Ws-2 is an Arabidopsis ecotype." [] synonym: "Wassilewskija-2" EXACT [] is_a: EFO:0005156 ! Wassilewskija ecotype [Term] id: EFO:0005159 name: Ws-3 def: "Ws-3 is an Arabidopsis ecotype." [] synonym: "Wassilewskija-3" EXACT [] is_a: EFO:0005156 ! Wassilewskija ecotype [Term] id: EFO:0005160 name: Umkirch ecotype def: "Umkirch is an Arabidopsis ecotype." [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana relationship: part_of EFO:0000434 ! ecotype [Term] id: EFO:0005161 name: Uk-1 def: "Uk-1 is an Arabidopsis ecotype." [] synonym: "Umkirch-1" EXACT [] is_a: EFO:0005160 ! Umkirch ecotype [Term] id: EFO:0005162 name: Uk-2 def: "Uk-2 is an Arabidopsis ecotype" [] synonym: "Umkirch-2" EXACT [] is_a: EFO:0005160 ! Umkirch ecotype [Term] id: EFO:0005163 name: Uk-3 def: "Uk-3 is an Arabidopsis ecotype." [] synonym: "Umkirch-3" EXACT [] is_a: EFO:0005160 ! Umkirch ecotype [Term] id: EFO:0005164 name: Calver ecotype def: "Calver is an Arabidopsis ecotype." [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana relationship: part_of EFO:0000434 ! ecotype [Term] id: EFO:0005165 name: Cal-0 def: "Cal-0 is an Arabidopsis ecotype." [] synonym: "Calver-0" EXACT [] is_a: EFO:0005164 ! Calver ecotype [Term] id: EFO:0005166 name: Blanes ecotype def: "Blanes is an Arabidopsis ecotype." [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana relationship: part_of EFO:0000434 ! ecotype [Term] id: EFO:0005167 name: Bla-1 def: "Bla-1 is an Arabidopsis ecotype." [] synonym: "Blanes-1" EXACT [] is_a: EFO:0005166 ! Blanes ecotype [Term] id: EFO:0005168 name: wild type genotype is_a: EFO:0000513 ! genotype [Term] id: EFO:0005169 name: Burren ecotype def: "Burren is an Arabidopsis ecotype." [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana relationship: part_of EFO:0000434 ! ecotype [Term] id: EFO:0005170 name: Bur-0 def: "Bur-0 is an Arabidopsis ecotype." [] synonym: "Burren-0" EXACT [] is_a: EFO:0005169 ! Burren ecotype [Term] id: EFO:0005171 name: Bologna ecotype def: "Bologna is an Arabidopsis ecotype." [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana relationship: part_of EFO:0000434 ! ecotype [Term] id: EFO:0005172 name: Bl-0 def: "Bl-0 is an Arabidopsis ecotype." [] synonym: "Bologna-0" EXACT [] is_a: EFO:0005171 ! Bologna ecotype [Term] id: EFO:0005173 name: Bl-1 def: "Bl-1 is an Arabidopsis ecotype." [] synonym: "Bologna-1" EXACT [] is_a: EFO:0005171 ! Bologna ecotype [Term] id: EFO:0005174 name: Bayreuth ecotype def: "Bayreuth is an Arabidopsis ecotype." [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana relationship: part_of EFO:0000434 ! ecotype [Term] id: EFO:0005175 name: Bay-0 def: "Bay-0 is an Arabidopsis ecotype." [] synonym: "Bayreuth-0" EXACT [] is_a: EFO:0005174 ! Bayreuth ecotype [Term] id: EFO:0005176 name: Coimbra ecotype def: "Coimbra is an Arabidopsis ecotype." [] synonym: "Co" EXACT [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana relationship: part_of EFO:0000434 ! ecotype [Term] id: EFO:0005177 name: Co-1 def: "Co-1 is an Arabidopsis ecotype." [] synonym: "Coimbra-1" EXACT [] is_a: EFO:0005176 ! Coimbra ecotype [Term] id: EFO:0005178 name: San Eleno ecotype def: "San Eleno is an Arabidopsis ecotype." [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana relationship: part_of EFO:0000434 ! ecotype [Term] id: EFO:0005179 name: Se-0 def: "Se-0 is an Arabidopsis ecotype" [] synonym: "San Eleno-0" EXACT [] is_a: EFO:0005178 ! San Eleno ecotype [Term] id: EFO:0005180 name: CD1 mus strain def: "The original group of Swiss mice that served as progenitors of this stock consisted of two male and seven female albino mice derived from a non-inbred stock in the laboratory of Dr. de Coulon, Centre Anticancereux Romand, Lausanne, Switzerland." [] synonym: "CD-1 mus" EXACT [] is_a: NCBITaxon:10090 ! Mus musculus property_value: definition:citation http://www.criver.com/en-US/ProdServ/ByType/ResModOver/ResMod/Pages/CD-1Mouse.aspx xsd:string [Term] id: EFO:0005181 name: C57BL def: "An inbred strain of mouse created in 1921 by C. C. Little at the Bussey Institute for Research in Applied Biology." [] is_a: NCBITaxon:10090 ! Mus musculus [Term] id: EFO:0005182 name: N'Dama def: "N'Dama are a breed of cattle from West Africa, of the Bos taurus-type. Other names for them include Boenca or Boyenca (Guinea-Bissau), Fouta Jallon, Fouta Longhorn, Fouta Malinke, Futa, Malinke, Mandingo (Liberia), N'Dama Petite (Senegal). Originating in the Guinea highlands they are also found in southern Senegal, Guinea-Bissau, Gambia, Mali, Côte d'Ivoire, Liberia, Nigeria and Sierra Leone. They are trypanotolerant, allowing them to be kept in tsetse fly infested areas. They also show superior resistance to ticks and the diseases they carry and to Haemonchus contortus stomach worms." [] synonym: "Boenca" EXACT [] is_a: NCBITaxon:9913 ! Bos taurus property_value: definition:citation http://en.wikipedia.org/wiki/N'Dama xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0005183 name: Boran cattle def: "Boran cattle are a popular Zebu beef breed in eastern Africa." [] xref: SNOMEDCT:133599002 is_a: NCBITaxon:9913 ! Bos taurus property_value: definition:citation http://en.wikipedia.org/wiki/Boran_cattle xsd:string [Term] id: EFO:0005184 name: DBA/2J def: "Inbred Strain TJL Mating System: Sibling x Sibling (Female x Male) Species: laboratory mouse H2 Haplotype: d Generation: F219p (14-DEC-06) Appearance: dilute brown Related Genotype: a/a Tyrp1b/Tyrp1b Myo5ad/Myo5ad Important Note This strain is homozygous for Cdh23ahl, the age related hearing loss 1 mutation, which on this background results in progressive hearing loss that is already severe by 3 months of age. Strain Description DBA/2J is a widely used inbred strain that is valuable in a wide number of research areas including cardiovascular biology, neurobiology, and sensorineural research." [] synonym: "D2" EXACT [] synonym: "D2J" EXACT [] synonym: "DBA2" EXACT [] is_a: NCBITaxon:10090 ! Mus musculus property_value: definition:citation "Beck, J.A., et al., Genealogies of mouse inbred strains (2000), Nature, Jan2000, v24, p23" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0005185 name: terminal ileum def: "The terminal ileum is the most distal part of the small intestine. It connects to the cecum, the pouch between the small and the large intestine, via the ileocecal valve." [] xref: NCIt:C33757 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0002108 ! small intestine [Term] id: EFO:0005186 name: uterus fundus def: "The fundus of the uterus is the top portion, opposite from the cervix.\nFundal height, measured from the top of the pubic bone, is routinely measured in pregnancy to determine growth rates." [] is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000995 ! uterus property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0005187 name: C-peptide measurement def: "A measurement of the connecting peptide, or C-peptide - a short 31-amino-acid polypeptide that connects insulin's A-chain to its B-chain in the proinsulin molecule. C-peptide measurements may be made for clinical diagnostics.\n\nAs a means of distinguishing type 1 diabetes from type 2 diabetes or Maturity onset diabetes of the young (MODY).\n\nTo determine how much of their own natural insulin a person is producing as C-peptide is secreted in equimolar amounts to insulin.\n\nC-peptide may be used for determining the possibility of gastrinomas associated with Multiple Endocrine Neoplasm syndromes.\n\nC-peptide levels may be checked in women with Polycystic Ovarian Syndrome (PCOS) to help determine degree of insulin resistance" [] xref: NCIt:C74736 is_a: EFO:0005127 ! cancer biomarker measurement is_a: EFO:0008001 ! insulin secretion measurement property_value: definition:citation https://en.wikipedia.org/wiki/C-peptide xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter, Helen Parkinson" xsd:string [Term] id: EFO:0005188 name: CCL11 measurement def: "A quantification of C-C motif chemokine 11, also known as Eotaxin,\nEosinophil chemotactic protein and\nSmall-inducible cytokine A11.\n In response to the presence of allergens, this protein directly promotes the accumulation of eosinophils, a prominent feature of allergic inflammatory reactions. Binds to CCR3" [] is_a: EFO:0004872 ! inflammatory biomarker measurement is_a: EFO:0004873 ! cytokine measurement relationship: IAO:0000136 EFO:0003786 ! is_about cytokine relationship: IAO:0000136 GO:0006954 ! is_about inflammatory response property_value: definition:citation http://www.uniprot.org/uniprot/P51671 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005189 name: respiratory quotient def: "The respiratory quotient (or RQ or respiratory coefficient), is a dimensionless number used in calculations of basal metabolic rate (BMR) when estimated from carbon dioxide production. Such measurements, like measurements of oxygen uptake, are forms of indirect calorimetry." [] xref: SNOMEDCT:74427007 is_a: EFO:0005115 ! metabolic rate measurement relationship: IAO:0000136 GO:0008152 ! is_about metabolic process property_value: definition:citation https://en.wikipedia.org/wiki/Respiratory_quotient xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005190 name: urinary nitrogen measurement is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005191 name: waist height ratio def: "A quantification of the waist-height WHtR - a measurement of body fat distribution. " [] is_a: EFO:0007861 ! body ratio measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005192 name: obsolete_red blood cell distribution width def: "measure of the variation of red blood cell (RBC) volume" [] synonym: "RDW" EXACT [] property_value: definition:citation "erthrocyte distribution width" xsd:string property_value: definition:citation https://en.wikipedia.org/wiki/Red_blood_cell_distribution_width xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.58.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0009188 [Term] id: EFO:0005193 name: serum IgG glycosylation measurement def: "quantification of N-linked IgG glycans in a serum sample" [] is_a: EFO:0004565 ! serum IgG measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005194 name: amyloid-beta measurement def: "quantification of the amyloid-beta, either in a sample of cerebro-spinal fluid or via PET scan, used as a biomarker for Alzheimer's disease" [] synonym: "Ab measurement" EXACT [] synonym: "cortical Ab measurement" EXACT [] is_a: EFO:0004747 ! protein measurement is_a: EFO:0006514 ! Alzheimer's disease biomarker measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 CHEBI:64645 ! is_about amyloid-beta relationship: IAO:0000136 MONDO:0004975 ! is_about Alzheimer disease property_value: definition:citation https://en.wikipedia.org/wiki/Amyloid_beta xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005195 name: response to cholinesterase inhibitor def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cholinesterase inhbitor stimulus." [] is_a: GO:0009410 ! response to xenobiotic stimulus relationship: IAO:0000136 CHEBI:37733 ! is_about EC 3.1.1.8 (cholinesterase) inhibitor property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005196 name: vasoactive peptide measurement def: "quantification of some peptide with a vasodilating or vasoconstricting effect in a blood sample, usually as an indicator of cardiovascular disease" [] is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease property_value: definition:citation http://europepmc.org/abstract/MED/23381795 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005197 name: beta-2 microglobulin measurement def: "A quantification of the MHC component beta-2 microglobulin, typically in a blood sample. Used as progostic indicator in multiple myeloma, and diseases associated with increased cell turnover. Levels are also elevated in several benign conditions such as chronic inflammation, liver disease, renal dysfunction, some acute viral infections, and a number of malignancies, especially hematologic malignancies associated with the B-lymphocyte lineage." [] xref: NCIt:C81980 is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein property_value: definition:citation http://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/9234 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005198 name: transplant outcome measurement xref: ICD10:T86 xref: ICD10:Z94 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005199 name: renal transplant outcome measurement def: "quantification of the outcome of a kidney transplant" [] is_a: EFO:0004742 ! renal system measurement is_a: EFO:0005198 ! transplant outcome measurement relationship: IAO:0000136 UBERON:0001008 ! is_about renal system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005200 name: antiphospholipid antibody measurement def: "Quantification of antiphospholipid antibodies in a biological sample, usually a blood sample. Antiphospholipid antibodies include anticardiolipin antibodies (ACL), lupus anticoagulant (LAC), and anti- β 2 glycoprotein I antibodies (anti- β 2GPI).They can be an indicator of antiphospholipid syndrome" [] xref: NCIt:C102258 xref: SNOMEDCT:82886000 is_a: EFO:0004556 ! antibody measurement is_a: EFO:0006846 ! autoimmune disease biomarker relationship: IAO:0000136 EFO:0000264 ! is_about antibody property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005201 name: height growth measurement def: "growth is measured as the difference in body height between two time points" [] is_a: EFO:0004324 ! body weights and measures property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005202 name: response to hydrochlorothiazide def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hydrochlorothiazide stimulus. " [] synonym: "response to HCTZ" EXACT [] is_a: EFO:0007981 ! response to thiazide property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005203 name: eating disorder def: "A broad group of psychological disorders with abnormal eating behaviors leading to physiological effects from overeating or insufficient food intake." [NCIT:C89332] def: "A group of disorders characterized by physiological and psychological disturbances in appetite or food intake." [] synonym: "eating disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "eating disorder" EXACT [NCIT:C89332] synonym: "feeding and eating disorder" EXACT [ISBN-13:978-1-259-64403-0] xref: DOID:8670 {source="EFO:0005203", source="MONDO:equivalentTo"} xref: ICD10:F50 xref: ICD9:307.50 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8670"} xref: ICD9:307.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10014062 xref: MedDRA:10014066 xref: MONDO:0005451 xref: NCIT:C89332 {source="EFO:0005203", source="MONDO:equivalentTo", source="DOID:8670", source="MONDO:exact-label-match"} xref: NCIt:C89332 xref: SCTID:72366004 {source="EFO:0005203", source="MONDO:equivalentTo", source="DOID:8670"} xref: SNOMEDCT:72366004 is_a: EFO:0000677 ! mental or behavioural disorder is_a: EFO:0001069 {source="NCIT:C89332"} ! nutritional disorder is_a: MONDO:0002025 {source="ISBN-13:978-1-259-64403-0"} ! psychiatric disorder property_value: exactMatch DOID:8670 property_value: exactMatch http://identifiers.org/snomedct/72366004 property_value: exactMatch NCIT:C89332 property_value: excluded_subClassOf MONDO:0000592 {source="DOID:8670"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005204 name: bulimia nervosa def: "A disorder characterized by recurrent episodes of binge-eating over which the individual feels a lack of control; these episodes of binge-eating are followed by recurrent compensatory behavior to prevent weight gain, usually self-induced vomiting. In addition, self-evaluation is unduly influenced by body image." [NCIT:C34440] def: "An eating disorder that is characterized by a cycle of binge eating (BULIMIA or bingeing) followed by inappropriate acts (purging) to avert weight gain. Purging methods often include self-induced VOMITING, use of LAXATIVES or DIURETICS, excessive exercise, and FASTING." [] synonym: "bulimia" EXACT [NCIT:C34440] synonym: "bulimia nervosa" EXACT [] {comment="preferred label from MONDO"} synonym: "hyperorexia nervosa" EXACT [DOID:12129] xref: DOID:12129 {source="EFO:0005204", source="MONDO:equivalentTo"} xref: ICD10CM:F50.2 {source="DOID:12129", source="MONDO:equivalentTo"} xref: ICD9:307.51 {source="EFO:0005204", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10006550 xref: MESH:D002032 {source="DOID:12129", source="MONDO:directSiblingOf"} xref: MESH:D052018 {source="EFO:0005204", source="MONDO:equivalentTo"} xref: MeSH:D052018 xref: MONDO:0005452 xref: NCIT:C34440 {source="EFO:0005204", source="MONDO:equivalentTo"} xref: NCIt:C34440 xref: NCIT:C97162 {source="DOID:12129", source="MONDO:directSiblingOf"} xref: OMIM:610269 xref: SCTID:78004001 {source="DOID:12129", source="EFO:0005204", source="MONDO:equivalentTo"} xref: SNOMEDCT:78004001 is_a: EFO:0005203 {source="DOID:12129", source="EFO:0005204", source="NCIT:C34440"} ! eating disorder property_value: exactMatch DOID:12129 property_value: exactMatch http://identifiers.org/mesh/D052018 property_value: exactMatch http://identifiers.org/snomedct/78004001 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/F50.2 property_value: exactMatch NCIT:C34440 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005205 name: response to dabigatran etexilate def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with dabigatran etexilate, an anticoagulant from the class of direct thrombin inhibitors. Dabigatran is used to prevent strokes in patients with atrial fibrillations due to causes other than heart valve disease, and at least one additional risk factor for stroke,and to prevent the formation of blood clots in the veins in adults who have had an operation to replace a hip or knee." [] is_a: GO:0061476 ! response to anticoagulant property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005206 name: oligoclonal band measurement def: "detection or quantification of bands of immunoglobulins in blood serum or cerebrospinal fluid, usually as an indicator of central nervous system disorders such as multiple sclerosis, Lyme disease, systemic lupus erythematosus or neurosarcoidosis" [] is_a: EFO:0001444 ! measurement property_value: definition:citation https://en.wikipedia.org/wiki/Oligoclonal_band xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005207 name: congenital heart disease def: "A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale." [NCIT:P378] def: "any form of heart disease that is present at birth, including defects to the structure and function of the heart and great vessels" [] synonym: "abnormalities, heart" RELATED [MESH:D006330] synonym: "Abnormality, heart" RELATED [MESH:D006330] synonym: "CHD" EXACT [] synonym: "congenital anomaly of heart" EXACT [DOID:1682] synonym: "congenital heart defect" EXACT [DOID:1682, MESH:D006330] synonym: "congenital heart defects" EXACT [DOID:1682, MESH:D006330, MTH:NOCODE] synonym: "congenital heart disease" EXACT [] {comment="preferred label from MONDO"} synonym: "defect, congenital heart" RELATED [MESH:D006330] synonym: "defects, congenital heart" RELATED [MESH:D006330] synonym: "heart abnormalities" RELATED [MESH:D006330] synonym: "heart abnormality" RELATED [MESH:D006330] synonym: "heart defect" EXACT [DOID:1682] synonym: "heart defect, congenital" RELATED [MESH:D006330] synonym: "heart malformation" BROAD [DOID:1682, NCIT:C34666] synonym: "heart, malformation Of" RELATED [MESH:D006330] synonym: "heart-congenital defect" RELATED [DOID:1682] xref: DOID:1682 {source="EFO:0005207", source="MONDO:equivalentTo"} xref: ICD9:746.84 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:746.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:746.9 {source="DOID:1682", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D006330 {source="DOID:1682", source="MONDO:equivalentTo"} xref: MONDO:0005453 xref: NCIT:C95834 {source="EFO:0005207", source="MONDO:equivalentTo"} xref: NCIt:C95834 xref: OMIM:106700 xref: OMIM:615779 xref: SCTID:13213009 {source="DOID:1682", source="EFO:0005207", source="MONDO:equivalentTo"} xref: SNOMEDCT:13213009 xref: UMLS:CN169364 {source="MONDO:equivalentTo"} is_a: EFO:0003777 {source="DOID:1682", source="EFO:0005207", source="MESH:D006330", source="NCIT:C95834/inferred"} ! heart disease is_a: MONDO:0024239 {source="NCIT:C95834"} ! congenital anomaly of cardiovascular system property_value: exactMatch DOID:1682 property_value: exactMatch http://identifiers.org/mesh/D006330 property_value: exactMatch http://identifiers.org/snomedct/13213009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN169364 property_value: exactMatch NCIT:C95834 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005208 name: glomerular filtration rate def: "measurement of the flow rate of filtered fluid through the kidney, calculated either by comparative measurements of substances in the blood and urine, or estimated from a blood test" [] synonym: "GFR" EXACT [] xref: MedDRA:10018355 xref: MeSH:D005919 xref: NCIt:C90505 xref: SNOMEDCT:80274001 is_a: EFO:0004742 ! renal system measurement relationship: IAO:0000136 EFO:0003086 ! is_about kidney disease relationship: IAO:0000136 UBERON:0002113 ! is_about kidney property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005210 name: brain connectivity measurement def: "quantification of the pattern of links between distinct units within a nervous system through neuroimaging techniques such a MRI" [] is_a: EFO:0004346 ! neuroimaging measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005211 name: aspirin hydrolysis measurement def: "quantification of the rate of hydrolysis of aspirin in blood as an indicator of the therapeutic effectiveness of aspirin" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005212 name: atmosphere unit def: "The standard atmosphere is an international reference pressure defined as 101325 Pa and formerly used as a unit of pressure." [] is_a: UO:0000109 ! pressure unit [Term] id: EFO:0005213 name: central corneal thickness def: "A measure of the corneal thickness (CCT). This can be measured by contact e.g. ultrasound, confocal microscpy or non contact methods e.g. biometry. Reduced central corneal thickness is used as an indicator for glaucoma." [] xref: SNOMEDCT:422162007 is_a: EFO:0004731 ! eye measurement relationship: IAO:0000136 EFO:0003966 ! is_about eye disease relationship: IAO:0000136 UBERON:0000970 ! is_about eye property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0005214 name: neuroblastoma cell line def: "A cell line which is a model for neuroblastoma." [] is_a: EFO:0001639 ! cancer cell line intersection_of: CL:0000010 ! cultured cell intersection_of: has_characteristic EFO:0000621 ! neuroblastoma [Term] id: EFO:0005215 name: breast adenocarcinoma cell line def: "A cell line which is a model for breast adenocarcinoma." [] is_a: EFO:0002885 ! breast cancer cell line intersection_of: CL:0000010 ! cultured cell intersection_of: has_characteristic EFO:0000304 ! breast adenocarcinoma [Term] id: EFO:0005216 name: hepatoma cell line def: "A cell line used as model for hepatocellular carcinoma." [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line intersection_of: CL:0000010 ! cultured cell intersection_of: has_characteristic EFO:0000182 ! hepatocellular carcinoma [Term] id: EFO:0005217 name: cervical adenocarcinoma cell line def: "A cell line used as a model for cervical adenocarcinoma." [] is_a: EFO:0005218 ! cervical carcinoma cell line intersection_of: CL:0000010 ! cultured cell intersection_of: has_characteristic EFO:0001416 ! cervical adenocarcinoma [Term] id: EFO:0005218 name: cervical carcinoma cell line def: "A cell line which is used as a model for cervical carcinoma." [] is_a: BTO:0001967 ! cervical cancer cell line intersection_of: CL:0000010 ! cultured cell intersection_of: has_characteristic EFO:0001061 ! cervical carcinoma [Term] id: EFO:0005219 name: TraDIS sequencing def: "Tra-DIS or Transposon Directed Insertion Site Sequencing is a sequencing technology developed at the Sanger Institute. The technique involves insertingtransposons into the genome to generate large numbers of mutants." [] is_a: EFO:0001456 ! DNA assay is_a: EFO:0002697 ! assay by high throughput sequencer relationship: RO:0000057 EFO:0002699 ! has_participant high throughput sequencer property_value: definition:citation http://www.sanger.ac.uk/about/press/2009/091016.html xsd:string [Term] id: EFO:0005220 name: pulmonary neuroendocrine tumor def: "A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma." [NCIT:C5670] synonym: "lung NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "lung neuroendocrine neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "lung neuroendocrine neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "lung neuroendocrine neoplasm" EXACT [MONDO:patterns/location, NCIT:C5670] synonym: "lung neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm] synonym: "lung neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "lung neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "neuroendocrine neoplasm of lung" EXACT [MONDO:patterns/neuroendocrine_neoplasm, NCIT:C5670] synonym: "neuroendocrine neoplasm of the lung" EXACT [NCIT:C5670] synonym: "pulmonary neuroendocrine neoplasm" EXACT [NCIT:C5670] synonym: "pulmonary neuroendocrine tumor" RELATED [DOID:5410] synonym: "pulmonary neuroendocrine tumour" RELATED OMO:0003005 [] xref: DOID:5410 {source="MONDO:equivalentTo", source="EFO:0005220"} xref: EFO:0005220 {source="MONDO:equivalentTo"} xref: ICD9:209.61 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:209.61 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MONDO:0005454 xref: NCIT:C5670 {source="DOID:5410", source="MONDO:equivalentTo", source="EFO:0005220"} xref: ONCOTREE:LNET {source="MONDO:equivalentTo"} xref: SCTID:707594002 {source="DOID:5410", source="MONDO:equivalentTo", source="EFO:0005220"} xref: UMLS:C1334452 {source="DOID:5410", source="NCIT:C5670", source="MONDO:equivalentTo"} is_a: EFO:1001901 {source="EFO:0005220", source="MONDO:Redundant", source="NCIT:C5670"} ! neuroendocrine neoplasm is_a: MONDO:0021117 {source="MONDO:Redundant", source="NCIT:C5670", source="ONCOTREE:LNET"} ! lung neoplasm property_value: exactMatch DOID:5410 property_value: exactMatch DOID:5410 property_value: exactMatch http://identifiers.org/snomedct/707594002 property_value: exactMatch http://identifiers.org/snomedct/707594002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334452 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334452 property_value: exactMatch NCIT:C5670 property_value: exactMatch NCIT:C5670 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml property_value: http://purl.org/dc/terms/conformsTo neuroendocrine:neoplasm.yaml [Term] id: EFO:0005221 name: cholangiocarcinoma def: "A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." [NCIT:C4436] subset: ordo_disease {source="Orphanet:70567"} synonym: "adult primary cholangiocarcinoma" EXACT [DOID:4947, NCIT:C8265] synonym: "adult primary cholangiocellular carcinoma" EXACT [DOID:4947] synonym: "bile duct cancer" BROAD [Orphanet:70567] synonym: "bile duct cancer" EXACT [Orphanet:70567] synonym: "CC" EXACT ABBREVIATION [NCIT:C4436] synonym: "CCA" EXACT ABBREVIATION [Orphanet:70567] synonym: "Cholangiocar.- intra/extrahepatic" EXACT [NCIT:C4436] synonym: "cholangiocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "cholangiocarcinoma" EXACT [NCIT:C4436] synonym: "cholangiocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "cholangiocarcinoma, intrahepatic and extrahepatic bile ducts (adenocarcinoma)" EXACT [NCIT:C4436] synonym: "cholangiocarcinoma, malignant" EXACT [NCIT:C4436] synonym: "Cholangiocellular carcinoma" EXACT [NCIT:C4436] synonym: "cholangiosarcoma" EXACT [DOID:4947, NCIT:C4436] synonym: "intrahepatic bile duct cancer (cholangiocarcinoma)" BROAD [NCIT:C4436] synonym: "intrahepatic bile duct cancer (cholangiocarcinoma)" EXACT [NCIT:C4436] xref: DOID:4947 {source="MONDO:equivalentTo", source="EFO:0005221"} xref: EFO:0005221 {source="MONDO:equivalentTo"} xref: GARD:0009304 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10:C22.1 {source="ORDO:70567/e", source="Orphanet:70567", source="DOID:4947"} xref: ICD10:C24.0 {source="ORDO:70567/btnt", source="Orphanet:70567"} xref: ICD10:C24.8 {source="ORDO:70567/btnt", source="Orphanet:70567"} xref: ICD10:C24.9 {source="ORDO:70567/btnt", source="Orphanet:70567"} xref: ICDO:8160/3 {source="NCIT:C4436"} xref: MedDRA:10004593 {source="ORDO:70567/e", source="Orphanet:70567"} xref: MedDRA:10004593 {source="Orphanet:70567", source="Orphanet:70567/e"} xref: MedDRA:10008593 {source="ORDO:70567/e", source="Orphanet:70567"} xref: MedDRA:10008593 {source="Orphanet:70567", source="Orphanet:70567/e"} xref: MESH:D018281 {source="MONDO:equivalentTo", source="Orphanet:70567", source="DOID:4947", source="EFO:0005221", source="Orphanet:70567/e"} xref: MESH:D018281 {source="MONDO:equivalentTo", source="ORDO:70567/e", source="Orphanet:70567", source="DOID:4947", source="EFO:0005221"} xref: MONDO:0019087 xref: NCIT:C4436 {source="MONDO:equivalentTo", source="DOID:4947", source="EFO:0005221"} xref: ONCOTREE:CHOL {source="MONDO:equivalentTo"} xref: Orphanet:70567 {source="MONDO:equivalentTo"} xref: SCTID:312104005 {source="MONDO:equivalentTo", source="DOID:4947"} xref: UMLS:C0206698 {source="MONDO:equivalentTo", source="Orphanet:70567", source="DOID:4947", source="NCIT:C4436", source="Orphanet:70567/e"} xref: UMLS:C0206698 {source="MONDO:equivalentTo", source="ORDO:70567/e", source="Orphanet:70567", source="DOID:4947", source="NCIT:C4436"} is_a: MONDO:0018536 ! adenocarcinoma of gallbladder and extrahepatic biliary tract property_value: closeMatch http://identifiers.org/meddra/10004593 property_value: closeMatch http://identifiers.org/meddra/10008593 property_value: closeMatch http://identifiers.org/snomedct/70179006 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0280725 property_value: closeMatch NCIT:C8265 property_value: exactMatch DOID:4947 property_value: exactMatch DOID:4947 property_value: exactMatch http://identifiers.org/meddra/10004593 property_value: exactMatch http://identifiers.org/meddra/10008593 property_value: exactMatch http://identifiers.org/mesh/D001650 property_value: exactMatch http://identifiers.org/mesh/D018281 property_value: exactMatch http://identifiers.org/mesh/D018281 property_value: exactMatch http://identifiers.org/snomedct/312104005 property_value: exactMatch http://identifiers.org/snomedct/312104005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206698 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206698 property_value: exactMatch NCIT:C4436 property_value: exactMatch NCIT:C4436 property_value: exactMatch Orphanet:70567 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0005222 name: avian influenza def: "An influenza that results_in infection located_in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted_by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress." [] def: "Infection of domestic and wild fowl and other birds with influenza A virus. Avian influenza usually does not sicken birds, but can be highly pathogenic and fatal in domestic poultry." [MESH:D005585] subset: ordo_disease {source="Orphanet:454836"} synonym: "avian flu" EXACT [DOID:4492] synonym: "avian influenza" EXACT [] {comment="preferred label from MONDO"} synonym: "bird flu" EXACT [DOID:4492] xref: DOID:4492 {source="EFO:0005222", source="MONDO:equivalentTo"} xref: MedDRA:10064097 xref: MESH:D005585 {source="MONDO:equivalentTo", source="DOID:4492"} xref: MONDO:0018695 xref: Orphanet:454836 {source="MONDO:equivalentTo"} xref: SCTID:55604004 {source="EFO:0005222", source="MONDO:equivalentTo", source="DOID:4492"} xref: SNOMEDCT:55604004 xref: UMLS:C0016627 {source="MONDO:equivalentTo", source="DOID:4492"} xref: UMLS:CN237762 {source="MONDO:equivalentTo"} is_a: EFO:0007328 {source="DOID:4492", source="EFO:0005222"} ! influenza property_value: exactMatch DOID:4492 property_value: exactMatch http://identifiers.org/mesh/D005585 property_value: exactMatch http://identifiers.org/snomedct/55604004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016627 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237762 property_value: exactMatch Orphanet:454836 property_value: excluded_subClassOf MONDO:0005087 {source="Orphanet:454836"} property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005223 name: acute stress reaction def: "An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by dissociative symptoms; vivid recollections of the traumatic event; avoidance of stimuli associated with the traumatic event; and a constant state of hyperarousal for no more than one month." [NCIT:C92621] synonym: "Acute Stress Disorder" EXACT [] synonym: "acute stress disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "acute stress disorders" EXACT [] synonym: "acute stress reaction" EXACT [MONDO:0005457] synonym: "acute stress reactions" EXACT [] synonym: "acute traumatic stress disorder" EXACT [] synonym: "mixed disorder as reaction to stress" EXACT [] synonym: "traumatic stress disorder" EXACT [DOID:6088] xref: DOID:6088 {source="MONDO:equivalentTo"} xref: ICD10CM:F43.0 {source="MONDO:equivalentTo"} xref: ICD9:308.3 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:6088"} xref: ICD9:308.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10001085 xref: MESH:D000068099 {source="MONDO:equivalentTo"} xref: MeSH:D040701 xref: MONDO:0003763 xref: NCIT:C92621 {source="EFO:0005223", source="MONDO:equivalentTo"} xref: NCIt:C92621 xref: SCTID:67195008 {source="MONDO:equivalentTo"} xref: UMLS:C0236816 xref: Wikipedia:Acute_stress_reaction {source="EFO:0005223"} is_a: EFO:0006788 {source="DOID:6088", source="NCIT:C92621"} ! anxiety disorder is_a: EFO:0010098 ! stress-related disorder is_a: MONDO:0020683 ! acute disease property_value: exactMatch DOID:6088 property_value: exactMatch http://identifiers.org/mesh/D000068099 property_value: exactMatch http://identifiers.org/snomedct/67195008 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/F43.0 property_value: exactMatch NCIT:C92621 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:0005224 name: Q fever def: " bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness." [] def: "A bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness." [NCIT:C34970] subset: gard_rare {source="GARD:0007515"} subset: ordo_disease {source="Orphanet:781"} synonym: "Coxiella burnetii caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Coxiella burnetii disease or disorder" EXACT [] synonym: "Coxiella burnetii fever" RELATED [GARD:0007515] synonym: "Coxiella burnetii infectious disease" EXACT [] synonym: "Coxiellosis" EXACT [Orphanet:781] synonym: "infection due to Coxiella burnetii" EXACT [Orphanet:781] synonym: "nine Mile fever" EXACT [Orphanet:781] synonym: "Q fever" EXACT [] {comment="preferred label from MONDO"} synonym: "Q fever pneumonia" RELATED [GARD:0007515] synonym: "quadrilateral fever" EXACT [Orphanet:781] synonym: "query fever" EXACT [Orphanet:781] xref: DOID:11100 {source="EFO:0005224", source="MONDO:equivalentTo"} xref: ICD10CM:A78 {source="Orphanet:781/e", source="MONDO:equivalentTo", source="DOID:11100", source="Orphanet:781"} xref: ICD9:083.0 {source="EFO:0005224", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11100"} xref: MedDRA:10037688 {source="Orphanet:781/e", source="Orphanet:781"} xref: MedDRA:10037731 {source="Orphanet:781/e", source="Orphanet:781"} xref: MESH:D011778 {source="EFO:0005224", source="Orphanet:781/e", source="MONDO:equivalentTo", source="DOID:11100", source="Orphanet:781"} xref: MeSH:D011778 xref: MONDO:0019186 xref: NCIT:C34970 {source="EFO:0005224", source="MONDO:equivalentTo", source="DOID:11100"} xref: NCIt:C34970 xref: Orphanet:781 {source="MONDO:equivalentTo"} xref: SCTID:186788009 {source="EFO:0005224", source="MONDO:equivalentTo", source="DOID:11100"} xref: SNOMEDCT:186788009 xref: UMLS:C0034362 {source="Orphanet:781/e", source="MONDO:equivalentTo", source="NCIT:C34970", source="DOID:11100", source="Orphanet:781"} is_a: MONDO:0000314 {source="DOID:11100"} ! primary bacterial infectious disease is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease relationship: disease_has_feature EFO:1001869 {source="MONDO:Wikidata"} ! dysentery relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare relationship: RO:0000057 NCBITaxon:777 ! has_participant Coxiella burnetii property_value: closeMatch http://identifiers.org/meddra/10037688 property_value: closeMatch http://identifiers.org/meddra/10037731 property_value: exactMatch DOID:11100 property_value: exactMatch http://identifiers.org/mesh/D011778 property_value: exactMatch http://identifiers.org/snomedct/186788009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034362 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A78 property_value: exactMatch NCIT:C34970 property_value: exactMatch Orphanet:781 property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7515/q-fever xsd:anyURI {source="GARD:0007515"} [Term] id: EFO:0005225 name: human african trypanosomiasis alt_id: MONDO:0018073 def: "A parasitic disorder caused by protozoa of the Trypanosoma brucei species. It is transmitted by flies and is endemic in various regions of Sub-Saharan Africa. Signs and symptoms include fever, joint pain, headache, and significant swelling of the lymph nodes. If left untreated, the parasitic infection causes anemia, heart, kidney, and endocrine failure, and neurologic damage. Subsequently patients develop confusion, disruption of the sleep cycle, and mental deterioration. The infection may lead to coma and death." [NCIT:P378] subset: ordo_disease {source="Orphanet:3385"} synonym: "Africam sleeping sickness" EXACT [MONDO:cjm] synonym: "African sleeping sickness" EXACT [DOID:10112] synonym: "African Trypanosomiasis" EXACT [] synonym: "African trypanosomiasis" EXACT [DOID:10112, MTH:NOCODE] synonym: "HAT" EXACT [] synonym: "human African trypanosomiasis" EXACT [] {comment="preferred label from MONDO"} synonym: "sleeping sickness" EXACT [DOID:10112, Orphanet:3385] xref: DOID:10112 {source="EFO:0005225", source="MONDO:equivalentTo"} xref: ICD9:086.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10112"} xref: MedDRA:10001461 {source="Orphanet:3385/e", source="Orphanet:3385"} xref: MESH:D014353 {source="MONDO:relatedTo", source="Orphanet:3385/e", source="Orphanet:3385", source="DOID:10112"} xref: MONDO:0005459 xref: NCIT:C84541 {source="EFO:0005225", source="MONDO:equivalentTo", source="DOID:10112"} xref: NCIt:C84541 xref: Orphanet:3385 {source="MONDO:equivalentTo"} xref: SCTID:27031003 {source="EFO:0005225", source="MONDO:equivalentTo", source="DOID:10112"} xref: SNOMEDCT:27031003 xref: UMLS:C0041228 {source="Orphanet:3385/e", source="MONDO:equivalentTo", source="NCIT:C84541", source="Orphanet:3385", source="DOID:10112"} is_a: DOID:10113 {source="DOID:10112", source="EFO:0005225"} ! trypanosomiasis is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease relationship: disease_has_feature MONDO:0002280 {source="MONDO:Wikidata"} ! anemia relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare property_value: closeMatch http://identifiers.org/meddra/10001461 property_value: exactMatch DOID:10112 property_value: exactMatch http://identifiers.org/snomedct/27031003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041228 property_value: exactMatch NCIT:C84541 property_value: exactMatch Orphanet:3385 property_value: relatedMatch http://identifiers.org/mesh/D014353 [Term] id: EFO:0005226 name: swine influenza def: "An acute viral respiratory infection caused by a strain of influenza virus which is endemic in swine (pigs). Rarely reported in humans prior to 2009, the disease is caused by a mutated strain of swine influenza A (H1N1) virus. It is highly contagious and spreads mainly through coughing and sneezing. Signs and symptoms include fever, chills, coughing, sore throat headache, muscle ache, and generalized weakness. Antiviral medications are most effective in the first two days of the illness." [NCIT:C80444] def: "An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea." [] comment: A viral infectious disease caused by swine influenza virus, NCBI taxon - http://purl.bioontology.org/ontology/NCBITAXON/12845 synonym: "H1N1 flu" EXACT [NCIT:C80444] synonym: "H1N1 Influenza" EXACT [NCIT:C80444] synonym: "H1N1 Virus infection" EXACT [NCIT:C80444] synonym: "Influenza A (H1N1)" EXACT [NCIT:C80444] synonym: "Influenza A (H1N1) Virus infection" EXACT [NCIT:C80444] synonym: "SIV" EXACT [] synonym: "swine flu" EXACT [NCIT:C80444] synonym: "swine influenza" EXACT [] {comment="preferred label from MONDO"} synonym: "Swine influenza virus caused influenza" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Swine influenza virus influenza" EXACT [] xref: DOID:0050211 {source="EFO:0005226", source="MONDO:equivalentTo"} xref: MedDRA:10069500 xref: MONDO:0005460 xref: NCIT:C80444 {source="MONDO:equivalentTo"} xref: SCTID:442696006 {source="MONDO:equivalentTo"} is_a: EFO:0007328 {source="DOID:0050211", source="EFO:0005226", source="MONDO:Redundant", source="NCIT:C80444"} ! influenza property_value: definition:citation http://en.wikipedia.org/wiki/Swine_influenza xsd:string property_value: exactMatch DOID:0050211 property_value: exactMatch http://identifiers.org/snomedct/442696006 property_value: exactMatch NCIT:C80444 [Term] id: EFO:0005227 name: GRO-seq def: "GRO-seq or Genomic run-on sequencing or sometimes Global run-on sequencing is a sequencing assay based on traditional nuclear run-on assays, but instead of looking at a few loci at a time, this is a high-throughput method that allows for the calculation of transcription rates of all genes across the genome. Please note that the starting materials for sequencing are RNAs, not genomic DNA because nascent transcripts are studied." [] synonym: "Genomic run-on sequencing" EXACT [] synonym: "Global run-on sequencing" EXACT [] is_a: EFO:0001457 ! RNA assay is_a: EFO:0003740 ! assay by sequencer relationship: RO:0000057 EFO:0003739 ! has_participant sequencer property_value: IAO:0000117 "Amy Tang" xsd:string [Term] id: EFO:0005228 name: plant population def: "A plant population is a grouping of plants consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." [] is_a: OBI:0000181 ! population property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0005229 name: reading def: "reading is the complex cognitive process of decoding symbols in order to construct or derive meaning" [] xref: MeSH:D011932 xref: NCIt:C48356 xref: SNOMEDCT:50360004 is_a: EFO:0003925 ! cognition property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005230 name: anxiety def: "Apprehension of danger and dread accompanied by restlessness, tension, tachycardia, and dyspnea unattached to a clearly identifiable stimulus." [] xref: MedDRA:10002855 xref: MeSH:D001007 xref: NCIt:C26696 xref: SNOMEDCT:48694002 is_a: HP:0000708 ! Atypical behavior property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005231 name: ECC-1 def: "An established epithelial cell line derived from an adenocarcinoma of human endometrial lining." [] synonym: "ECC-1 cell" EXACT [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0005232 ! endometrium adenocarcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation "BTO_0005365" xsd:string [Term] id: EFO:0005232 name: endometrium adenocarcinoma def: "An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma." [NCIT:C7359] synonym: "adenocarcinoma of endometrium" EXACT [NCIT:C7359] synonym: "adenocarcinoma of the endometrium" EXACT [DOID:2870, NCIT:C7359] synonym: "adenocarcinoma of uterus" EXACT [DOID:2870] synonym: "adenocarcinoma, endometrial, malignant" EXACT [NCIT:C7359] synonym: "endometrial adenoacanthoma" EXACT [DOID:2870] synonym: "endometrial adenocarcinoma" EXACT [NCIT:C7359] synonym: "endometrial endometrioid adenocarcinoma" RELATED [DOID:2870] synonym: "endometrial endometrioid adenocarcinoma with squamous differentiation" EXACT [DOID:2870, NCIT:C8027] synonym: "endometrioid adenoma or carcinoma" EXACT [DOID:2870] synonym: "endometrioid adenoma or carcinoma NOS (morphologic abnormality)" EXACT [DOID:2870] synonym: "endometrioid adenomas and carcinomas" EXACT [DOID:2870] synonym: "endometrioid adenomas and carcinomas (morphologic abnormality)" EXACT [DOID:2870] synonym: "endometrioid carcinoma of endometrium" BROAD [DOID:2870, NCIT:C6287] synonym: "endometrioid carcinoma of endometrium" EXACT [DOID:2870, NCIT:C6287] synonym: "endometrium adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "endometrium adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "endometrium adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:2870 {source="MONDO:equivalentTo", source="EFO:0005232"} xref: EFO:0005232 {source="MONDO:equivalentTo"} xref: MONDO:0005461 xref: NCIT:C6287 {source="DOID:2870", source="MONDO:directSiblingOf"} xref: NCIT:C7359 {source="DOID:2870", source="MONDO:equivalentTo", source="EFO:0005232"} xref: UMLS:C0279763 {source="DOID:2870", source="MONDO:equivalentTo"} xref: UMLS:C1153706 {source="DOID:2870", source="MONDO:equivalentTo", source="NCIT:C7359"} xref: UMLS:C1336905 {source="DOID:2870", source="MONDO:directSiblingOf"} is_a: EFO:0000228 {source="DOID:2870", source="EFO:0005232", source="MONDO:Redundant", source="NCIT:C7359"} ! adenocarcinoma is_a: EFO:1001512 {source="DOID:2870", source="MONDO:Redundant", source="NCIT:C7359"} ! endometrial carcinoma relationship: EFO:0000784 UBERON:0001295 ! has_disease_location endometrium property_value: closeMatch http://identifiers.org/snomedct/123845008 property_value: closeMatch http://identifiers.org/snomedct/189649001 property_value: closeMatch http://identifiers.org/snomedct/189652009 property_value: closeMatch http://identifiers.org/snomedct/309245001 property_value: closeMatch NCIT:C6290 property_value: exactMatch DOID:2870 property_value: exactMatch DOID:2870 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279763 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279763 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1153706 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1153706 property_value: exactMatch NCIT:C7359 property_value: exactMatch NCIT:C7359 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/adenocarcinoma.yaml [Term] id: EFO:0005233 name: CH12.LX def: "The CH12.LX B cell line derived from the murine CH12 B cell lymphoma." [] synonym: "CH12.LX cell" EXACT [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002887 ! mouse cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000574 ! lymphoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation "BTO_0002493" xsd:string [Term] id: EFO:0005234 name: PFSK-1 def: "Neuroectodermal cell line derived from a cerebral brain tumor." [] synonym: "PFSK-1 cell" EXACT [] is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0005235 ! primitive neuroectodermal tumor relationship: RO:0000086 HANCESTRO:0005 ! has_quality European relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation "[PMID: 1316433] [CLO:0008425]" xsd:string [Term] id: EFO:0005235 name: primitive neuroectodermal tumor def: "A malignant neoplasm that originates in the neuroectoderm. The neuroectoderm constitutes the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems and includes some glial cell precursors." [NCIT:C3716] comment: Editor note: TODO check relationship to neuroepithelioma synonym: "neuroectodermal neoplasm" EXACT [NCIT:C3716] synonym: "neuroectodermal tumor" EXACT [MONDO:0002084, NCIT:C3716] synonym: "neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "neuroepithelioma" RELATED [NCIT:C3716] synonym: "PNET" EXACT ABBREVIATION [NCIT:C3716] synonym: "primitive neuroectodermal neoplasm" EXACT [DOID:171, NCIT:C3716] synonym: "primitive neuroectodermal tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "primitive neuroectodermal tumor" EXACT [NCIT:C3716] synonym: "primitive neuroectodermal tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "primitive neuroectodermal tumor (PNET)" EXACT [NCIT:C3716] synonym: "primitive neuroectodermal tumour (PNET)" EXACT OMO:0003005 [] xref: DOID:171 {source="MONDO:equivalentTo"} xref: EFO:0005235 {source="MONDO:equivalentTo"} xref: ICDO:9473/3 {source="NCIT:C3716"} xref: ICDO:9503/3 {source="NCIT:C3716"} xref: MESH:D017599 {source="MONDO:equivalentTo", source="DOID:171"} xref: MONDO:0005462 xref: NCIT:C3716 {source="EFO:0005235", source="MONDO:equivalentTo", source="ONCOTREE:PNET"} xref: ONCOTREE:PNET {source="MONDO:equivalentTo"} is_a: EFO:0009386 ! central nervous system disease is_a: MONDO:0016708 ! embryonal tumor of neuroepithelial tissue property_value: closeMatch http://identifiers.org/snomedct/253096008 property_value: closeMatch http://identifiers.org/snomedct/39781001 property_value: closeMatch http://identifiers.org/snomedct/699028006 property_value: closeMatch http://identifiers.org/snomedct/73676002 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0206093 property_value: exactMatch DOID:171 property_value: exactMatch DOID:171 property_value: exactMatch http://identifiers.org/mesh/D017599 property_value: exactMatch http://identifiers.org/mesh/D017599 property_value: exactMatch NCIT:C3716 property_value: exactMatch NCIT:C3716 property_value: excluded_subClassOf MONDO:0002510 {source="MESH:D017599"} property_value: excluded_subClassOf MONDO:0005872 {source="DOID:171"} [Term] id: EFO:0005236 name: NT2/D1 def: " The NTERA-2 cl.D1 cell line is a pluripotent human testicular embryonal carcinoma cell line derived by cloning the NTERA-2 cell line. Derived from metastatic site: lung" [] synonym: "NT2/D1 cell" EXACT [] synonym: "NTERA-2 cl.D1 cell" EXACT [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0004986 ! embryonal carcinoma relationship: RO:0000086 HANCESTRO:0005 ! has_quality European relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation [BTO:0000946] xsd:string [Term] id: EFO:0005237 name: U-87 MG def: "A human epithelial cell derived from subject with grade IV glioblastoma; astrocytoma." [] synonym: "U-87 cell" EXACT [] synonym: "U-87 MG cell" EXACT [] synonym: "U-87-MG cell" EXACT [] synonym: "U-87MG cell" EXACT [] synonym: "U87" EXACT [] synonym: "U87 cell" EXACT [] synonym: "U87-MG cell" EXACT [] synonym: "U87MG cell" EXACT [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000272 ! astrocytoma relationship: RO:0000086 HANCESTRO:0005 ! has_quality European relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0005238 name: breed def: "A breed is a specific group of domestic animals or plants having homogeneous appearance, homogeneous behavior, and other characteristics that distinguish it from other animals or plants of the same species and that were arrived at through selective breeding." [] synonym: "animal breed" EXACT [] xref: NCIt:C53692 is_a: OBI:0000181 ! population property_value: IAO:0000112 "Afghan Hound" xsd:string [Term] id: EFO:0005239 name: aortic valve calcification def: "Calcification of the aortic valve" [EFO:0005239] def: "calcification of the aortic valve" [] synonym: "aortic valve calcification" EXACT [] {comment="preferred label from MONDO"} synonym: "aortic valve calcification" EXACT [MONDO:ambiguous] synonym: "aortic valve calcification (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0004380 {source="MONDO:otherHierarchy"} xref: MedDRA:10050559 xref: MONDO:0005463 xref: SCTID:250978003 {source="MONDO:equivalentTo", source="EFO:0005239"} xref: SNOMEDCT:250978003 xref: UMLS:C0428791 {source="MONDO:equivalentTo"} is_a: EFO:0009531 ! aortic valve disease relationship: EFO:0000784 UBERON:0002137 ! has_disease_location aortic valve property_value: exactMatch http://identifiers.org/snomedct/250978003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0428791 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000589 "aortic valve calcification (disease)" xsd:string [Term] id: EFO:0005240 name: rhegmatogenous retinal detachment def: "A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium." [] def: "Retinal detachment secondary to retinal tear or break." [NCIT:P378] synonym: "rhegmatogenous retinal detachment" EXACT [] {comment="preferred label from MONDO"} xref: MedDRA:10065569 xref: MONDO:0005464 xref: NCIT:C118755 {source="MONDO:equivalentTo", source="EFO:0005240"} xref: NCIt:C118755 xref: SCTID:19620000 {source="MONDO:equivalentTo", source="EFO:0005240"} xref: SNOMEDCT:19620000 xref: UMLS:C0271055 {source="MONDO:equivalentTo", source="NCIT:C118755"} is_a: EFO:0005773 {source="EFO:0005240", source="NCIT:C118755"} ! retinal detachment relationship: EFO:0000784 UBERON:0000966 ! has_disease_location retina property_value: exactMatch http://identifiers.org/snomedct/19620000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271055 property_value: exactMatch NCIT:C118755 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005241 name: employment status def: "quantification of an individual's occupation, both in terms of employment vs unemployment and in terms of nature of employment, eg self-employment" [] xref: SNOMEDCT:224362002 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005242 name: methamphetamine-induced psychosis def: "Abnormal mental state resulting from an abuse of methamphetamine" [EFO:0005242] def: "abnormal mental state resulting from an abuse of methamphetamine" [] synonym: "methamphetamine-induced psychosis" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0005465 is_a: EFO:0005407 {source="MONDO:cjm"} ! psychosis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005243 name: myeloperoxidase measurement def: "quantification of the enzyme myeloperoxidase in the blood, for example as an indicator of coronary artery disease" [] xref: NCIt:C80198 is_a: EFO:0004747 ! protein measurement is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease relationship: IAO:0000136 OBI:0000427 ! is_about enzyme property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005244 name: gastric bypass def: "any of a group of similar operations that first divides the stomach into a small upper pouch and a much larger lower \"remnant\" pouch and then re-arranges the small intestine to connect to bot" [] xref: MeSH:D015390 is_a: EFO:0020979 ! digestive system surgery property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005245 name: body weight loss def: "the process of decreasing the mass of an organsim over time" [] is_a: HP:0004323 ! Abnormality of body weight property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005246 name: hypersomnia def: "a large group of disorders characterized by excessive daytime sleepiness" [] def: "A sleep disorder characterized by excessive sleepiness." [NCIT:P378] synonym: "hypersomnia" EXACT [MONDO:ambiguous] synonym: "hypersomnia" EXACT [] {comment="preferred label from MONDO"} synonym: "hypersomnia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0100786 {source="MONDO:otherHierarchy"} xref: ICD9:780.54 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10020765 xref: MONDO:0005466 xref: NCIT:C78346 {source="EFO:0005246", source="MONDO:equivalentTo"} xref: NCIt:C78346 xref: SCTID:77692006 {source="EFO:0005246", source="MONDO:equivalentTo"} xref: SNOMEDCT:77692006 xref: UMLS:C0917799 {source="MONDO:equivalentTo", source="NCIT:C78346"} is_a: MONDO:0003406 {source="EFO:0005246", source="NCIT:C78346"} ! sleep-wake disorder property_value: exactMatch http://identifiers.org/snomedct/77692006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0917799 property_value: exactMatch NCIT:C78346 property_value: excluded_subClassOf MONDO:0005071 {source="EFO:0005246"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000589 "hypersomnia (disease)" xsd:string [Term] id: EFO:0005247 name: anti-Helicobacter pylori serum IgG measurement def: "measurement of the IgG antibody isotype produced by plasma cells in response to a Heliobacter pylori infection" [] is_a: EFO:0004565 ! serum IgG measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005250 name: occupation-related stress disorder def: "The response people may have when presented with work demands and pressures that are not matched to their knowledge and abilities and which challenge their ability to cope." [EFO:0005250] synonym: "occupation-related stress disorder" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0005467 xref: SCTID:10586006 {source="MONDO:equivalentTo", source="EFO:0005250"} xref: SNOMEDCT:10586006 xref: Wikipedia:Occupational_stress {source="EFO:0005250"} is_a: EFO:0000677 ! mental or behavioural disorder is_a: MONDO:0100366 {source="https://orcid.org/0000-0002-0736-9199"} ! occupational disorder property_value: exactMatch http://identifiers.org/snomedct/10586006 property_value: excluded_subClassOf MONDO:0005084 {source="EFO:0005250"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3061 xsd:anyURI [Term] id: EFO:0005251 name: hypotension def: "Blood pressure that is abnormally low." [NCIT:P378] synonym: "hypotension" EXACT [MONDO:ambiguous] synonym: "hypotension (disease)" EXACT [https://github.com/monarch-initiative/mondo/issues/1030] synonym: "hypotensive disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "low blood pressure" EXACT [] xref: HP:0002615 {source="MONDO:otherHierarchy"} xref: ICD10:I95 xref: ICD9:458 {source="EFO:0005251"} xref: ICD9:458.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:458.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10021097 xref: MedDRA:10021106 xref: MESH:D007022 {source="MONDO:equivalentTo", source="EFO:0005251"} xref: MeSH:D007022 xref: MONDO:0005468 xref: NCIt:C3128 xref: SCTID:45007003 {source="MONDO:equivalentTo", source="EFO:0005251"} xref: SNOMEDCT:45007003 is_a: MONDO:0000473 {source="https://github.com/monarch-initiative/mondo/issues/1030"} ! arterial disorder property_value: exactMatch http://identifiers.org/mesh/D007022 property_value: exactMatch http://identifiers.org/snomedct/45007003 property_value: excluded_subClassOf MONDO:0004995 {source="EFO:0005251", source="MESH:D007022/inferred"} property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0005252 name: orthostatic hypotension def: "Sudden fall of the blood pressure of at least 20/10 mm Hg when a person stands up." [NCIT:P378] synonym: "orthostatic hypotension" EXACT [MONDO:ambiguous] synonym: "orthostatic hypotension" EXACT [] {comment="preferred label from MONDO"} synonym: "orthostatic hypotension (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "postural hypotension" EXACT [] xref: HP:0001278 {source="MONDO:otherHierarchy"} xref: ICD9:458.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0005252"} xref: MedDRA:10031127 xref: MONDO:0005469 xref: NCIt:C84970 xref: OMIM:618182 xref: SCTID:28651003 {source="MONDO:equivalentTo", source="EFO:0005252"} xref: SNOMEDCT:28651003 is_a: EFO:0005251 {source="EFO:0005252"} ! hypotension property_value: exactMatch http://identifiers.org/snomedct/28651003 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000589 "orthostatic hypotension (disease)" xsd:string [Term] id: EFO:0005253 name: postprandial hypotension def: "drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous sytem for the diversion of blood to the intestines " [] def: "Drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous sytem for the diversion of blood to the intestines." [EFO:0005253] synonym: "postprandial hypotension" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0005470 is_a: EFO:0005251 {source="EFO:0005253"} ! hypotension property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005254 name: neurally mediated hypotension def: "Neurally mediated hypotension is a sudden drop in blood pressure while an individual stands up. It occurs when there is an abnormal reflex interaction between the heart and the brain, both of which usually are structurally normal" [EFO:0005254] synonym: "neurally mediated hypotension" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0005471 is_a: EFO:0005251 {source="EFO:0005254"} ! hypotension property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005257 name: response to anthracycline-based chemotherapy def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an anthracycline-based chemotherapy stimulus." [] is_a: GO:0097327 ! response to antineoplastic agent property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0005260 name: response to antimicrotubule agent def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antimicrotubule agent stimulus." [] is_a: GO:0097327 ! response to antineoplastic agent property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0005262 name: mitral annular calcification def: "degenerative calcification of the mitral valve ring, often used as a marker of severe coronary artery disease " [] synonym: "MAC" EXACT [] is_a: HP:0001626 ! Abnormality of the cardiovascular system relationship: RO:0002314 UBERON:0002135 ! inheres in part of mitral valve property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005263 name: TOV-112D def: "TOV-112D is a human epithelial cell line initiated in October of 1992 from a patient with early onset ovarian cancer. The patient was of French-Canadian descent with an unknown family history of ovarian cancer." [] synonym: "TOV112D" EXACT [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000466 ! endometrioid carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.lgcstandards-atcc.org/products/all/CRL-11731.aspx?geo_country=gb#characteristics xsd:string [Term] id: EFO:0005264 name: Ect1 def: "The ectocervical Ect1/E6E7 (ATCC CRL-2614) and endocervical End1/E6E7 (ATCC CRL-2615) cell lines were established in 1996 from normal epithelial tissue taken from a premenopausal woman undergoing hysterectomy for endometriosis." [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0001065 ! endometriosis relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.lgcstandards-atcc.org/products/all/CRL-2614.aspx?geo_country=gb#characteristics xsd:string [Term] id: EFO:0005265 name: MOLT-3 def: "MOLT-3 is a male human malignant T-lymphoblastic cell line." [] synonym: "MOLT3" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line is_a: EFO:0005292 ! lymphoblastoid cell line relationship: has_characteristic EFO:0000220 ! acute lymphoblastic leukemia relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0005266 name: serum selenium measurement def: "quantification of selenium in blood" [] xref: SNOMEDCT:166759002 is_a: EFO:0006331 ! selenium measurement relationship: IAO:0000136 CHEBI:27568 ! is_about selenium atom property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005267 name: serum copper measurement def: "quantification of copper in blood used in the diagnosis of Wilson's disease (in combination with ceruloplasmin measurement) or copper deficiences. Low levels may indicate Wilson's disease, high levels may indicate liver disease." [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 CHEBI:28694 ! is_about copper atom property_value: definition:citation http://labtestsonline.org.uk/understanding/analytes/copper/ xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005268 name: serum zinc measurement def: "quantification of zinc in blood" [] xref: SNOMEDCT:273975003 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 CHEBI:27363 ! is_about zinc atom property_value: definition:citation https://en.wikipedia.org/wiki/Zinc_deficiency xsd:string property_value: definition:citation https://ods.od.nih.gov/factsheets/Zinc-Consumer/#h6 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005269 name: congenital heart malformation def: "A disease that has its basis in the disruption of heart development." [MONDO:patterns/basis_in_disruption_of_process] def: "any structural anomly of the heart that is present from birth" [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:88991"} synonym: "congenital heart malformation" EXACT [] {comment="preferred label from MONDO"} synonym: "congenital heart malformation" EXACT [MONDO:0005472] synonym: "congenital non-syndromic heart malformation" RELATED [Orphanet:88991] synonym: "disorder of heart development" EXACT [MONDO:patterns/basis_in_disruption_of_process] synonym: "heart development disease" EXACT [MONDO:design_pattern] synonym: "rare congenital non-syndromic heart malformation" RELATED [Orphanet:88991] xref: ICD10:Q20 xref: ICD10:Q24 xref: MONDO:0019512 xref: OMIM:306955 xref: OMIM:614980 xref: Orphanet:88991 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0005207 ! congenital heart disease relationship: EFO:0000784 UBERON:0004535 ! has_disease_location cardiovascular system relationship: has_characteristic MONDO:0021136 {source="MONDO:0020003"} ! rare property_value: exactMatch Orphanet:88991 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005271 name: sleep duration def: "duration of sleep, measured either via a self-reporting questionnaire, interview or through obversation in a sleep lab" [] is_a: EFO:0004870 ! sleep measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005272 name: sleep quality def: "quantification of some aspect of sleep quality, such as number of awakenings during a sleep interval or time taken to get to sleep. Sleep quality can be evaluated either through self-reporting, observation in a sleep lab or using a sleep monitoring device" [] xref: NCIt:C121705 is_a: EFO:0004870 ! sleep measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005273 name: sleep depth def: "self-reported assessment of how difficult an individual is to wake" [] is_a: EFO:0004870 ! sleep measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005274 name: sleep time def: "measurement of the time at which sleep begins" [] is_a: EFO:0004870 ! sleep measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005275 name: dihydroxy docosatrienoic acid measurement def: "the quantification of dihydroxy docosatrienoic acid, a metabolite significantly associated with increased risk of heart failure" [] is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005276 name: hydroxy-leucine measurement def: "the quantification of hydroxy-leucine, a metabolite significantly associated with increased risk of heart failure" [] synonym: "hydroxy-isoleucine measurement" EXACT [] synonym: "X-11787 measurement" EXACT [] is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005278 name: cardiovascular disease biomarker measurement def: "cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" [] is_a: EFO:0004298 ! cardiovascular measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005279 name: temporomandibular joint disorder def: "A variety of conditions affecting the anatomic and functional characteristics of the temporomandibular joint. Factors contributing to the complexity of temporomandibular diseases are its relation to dentition and mastication and the symptomatic effects in other areas which account for referred pain to the joint and the difficulties in applying traditional diagnostic procedures to temporomandibular joint pathology where tissue is rarely obtained and x-rays are often inadequate or nonspecific. Common diseases are developmental abnormalities, trauma, subluxation, luxation, arthritis, and neoplasia." [] def: "Any condition affecting the anatomic and functional characteristics of the temporomandibular joint." [NCIT:P378] synonym: "temporomandibular joint disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "TMD" EXACT ABBREVIATION [NCIT:C63709] xref: ICD9:524.60 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:524.69 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10043216 xref: MESH:D013705 {source="MONDO:equivalentTo"} xref: MONDO:0005473 xref: NCIT:C63709 {source="EFO:0005279", source="MONDO:equivalentTo"} xref: NCIt:C63709 xref: SCTID:41888000 {source="EFO:0005279", source="MONDO:equivalentTo"} xref: SNOMEDCT:41888000 is_a: EFO:0000524 ! head and neck disorder is_a: EFO:1000999 {source="MESH:D013705", source="NCIT:C63709"} ! joint disease property_value: exactMatch http://identifiers.org/mesh/D013705 property_value: exactMatch http://identifiers.org/snomedct/41888000 property_value: exactMatch NCIT:C63709 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0005280 name: sleep latency def: "amount of time, usually recorded in minutes, between going to bed and falling asleep" [] is_a: EFO:0004870 ! sleep measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005282 name: HS-5 def: "Established from human bone marrow stromal cells transformed by HPV-16 E6/E7." [] synonym: "HS-5 cell" EXACT [] is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male relationship: RO:0001000 HANCESTRO:0005 ! derives_from European property_value: definition:citation https://www.atcc.org/Products/All/CRL-11882.aspx xsd:string [Term] id: EFO:0005283 name: HS-27A def: "Established from human bone marrow stromal cells transformed by HPV-16 E6/E7." [] synonym: "HS-27A cell" EXACT [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male relationship: RO:0001000 HANCESTRO:0005 ! derives_from European property_value: definition:citation https://www.atcc.org/products/all/CRL-2496.aspx xsd:string [Term] id: EFO:0005284 name: L-1210 def: "Mouse lymphocytic leukemia established from the methylcholanthrene-induced tumor in a DBA strain mouse (subline 212, 8-month-old female) in 1949; the cells were propagated by heterotransplantation into DBA/2 mice; an in-vitro suspension culture was first reported in 1966; cells are used for cytotoxicity studies.[BTO:0000702]" [] synonym: "L-1210 cell" EXACT [] synonym: "L1210" EXACT [] synonym: "L1210 cell" EXACT [] is_a: EFO:0002887 ! mouse cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line is_a: EFO:0005292 ! lymphoblastoid cell line relationship: has_characteristic EFO:0004289 ! lymphoid leukemia relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0005285 name: A20 def: "Murine B-lymphoma cell line. PMID: 14738152 [BTO:0001930]" [] synonym: "A-20" EXACT [] synonym: "A20 cell" EXACT [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002887 ! mouse cell line relationship: has_characteristic EFO:0005287 ! reticulum cell sarcoma [Term] id: EFO:0005286 name: BALB/cAnN def: "Albino inbred mus musculus strain." [] is_a: NCBITaxon:10090 ! Mus musculus [Term] id: EFO:0005287 name: reticulum cell sarcoma def: "An antiquated term that refers to a non-Hodgkin lymphoma composed of diffuse infiltrates of large, often anaplastic lymphocytes." [NCIT:C27824] comment: Editor note: check this subset: ordo_disease {source="Orphanet:86900"} synonym: "histiocytic lymphoma" EXACT [DOID:8538] synonym: "histiocytic lymphoma" EXACT [CSP2005:2004-7036, DOID:8538] synonym: "interdigitating cell sarcoma" EXACT [Orphanet:86900] synonym: "large-cell Lymphomas" EXACT [DOID:8538, MTH:NOCODE] synonym: "reticular cell sarcoma" EXACT [MONDO:patterns/location] synonym: "reticulosarcoma" EXACT [DOID:8538, NCIT:C27824] synonym: "Reticulum cell sarcoma" EXACT [Orphanet:86900] synonym: "reticulum cell sarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "reticulum cell sarcoma" EXACT [OMIM:267730] synonym: "reticulum cell sarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "sarcoma of reticular cell" EXACT [MONDO:patterns/sarcoma] xref: DOID:8538 {source="MONDO:equivalentTo", source="EFO:0005287"} xref: EFO:0005287 {source="MONDO:equivalentTo"} xref: ICD10:C96.4 {source="ORDO:86900/ntbt", source="Orphanet:86900"} xref: ICD9:200.0 {source="DOID:8538", source="EFO:0005287"} xref: ICD9:200.00 {source="MONDO:equivalentTo", source="i2s"} xref: ICD9:200.00 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:200.7 {source="DOID:8538"} xref: MedDRA:10038804 {source="Orphanet:86900", source="Orphanet:86900/e"} xref: MedDRA:10038804 {source="ORDO:86900/e", source="Orphanet:86900"} xref: MESH:D008228 {source="MONDO:relatedTo", source="DOID:8538"} xref: MESH:D054739 {source="MONDO:relatedTo", source="Orphanet:86900", source="Orphanet:86900/e"} xref: MONDO:0009975 xref: NCIT:C27824 {source="DOID:8538", source="MONDO:equivalentTo", source="EFO:0005287"} xref: OMIM:267730 {source="DOID:8538", source="ORDO:86900/e", source="MONDO:equivalentTo", source="Orphanet:86900"} xref: OMIM:267730 {source="DOID:8538", source="MONDO:equivalentTo", source="Orphanet:86900", source="Orphanet:86900/e"} xref: Orphanet:86900 {source="MONDO:equivalentTo", source="OMIM:267730"} xref: SCTID:373168002 {source="DOID:8538", source="MONDO:equivalentTo", source="EFO:0005287"} is_a: EFO:0000691 {source="EFO:0005287"} ! sarcoma is_a: MONDO:0000612 {source="DOID:8538"} ! lymphatic system cancer is_a: MONDO:0020082 {source="Orphanet:86900"} ! dendritic cell tumor property_value: closeMatch http://identifiers.org/meddra/10038804 property_value: closeMatch http://identifiers.org/snomedct/118604003 property_value: closeMatch http://identifiers.org/snomedct/154579006 property_value: closeMatch http://identifiers.org/snomedct/188488003 property_value: closeMatch http://identifiers.org/snomedct/188497004 property_value: closeMatch http://identifiers.org/snomedct/189982000 property_value: closeMatch http://identifiers.org/snomedct/189983005 property_value: closeMatch http://identifiers.org/snomedct/189986002 property_value: closeMatch http://identifiers.org/snomedct/190012002 property_value: closeMatch http://identifiers.org/snomedct/40152000 property_value: exactMatch DOID:8538 property_value: exactMatch DOID:8538 property_value: exactMatch http://identifiers.org/meddra/10038804 property_value: exactMatch http://identifiers.org/mesh/D054739 property_value: exactMatch http://identifiers.org/omim/267730 property_value: exactMatch http://identifiers.org/snomedct/373168002 property_value: exactMatch http://identifiers.org/snomedct/373168002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024302 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1260326 property_value: exactMatch https://omim.org/entry/267730 property_value: exactMatch NCIT:C27824 property_value: exactMatch NCIT:C27824 property_value: exactMatch Orphanet:86900 [Term] id: EFO:0005288 name: non-small cell lung adenocarcinoma def: "Type of epithelial lung cancer arising from glandular origin." [] synonym: "Lung Adenocarcinoma" EXACT [] xref: DOID:3910 xref: NCIt:C3512 is_a: EFO:0000228 ! adenocarcinoma is_a: EFO:0003060 ! non-small cell lung carcinoma [Term] id: EFO:0005289 name: mural granulosa cell def: "The mural granulosa cells form during antral folliculogenesis, process in which a single antral cavity is formed, separating two functionally distinct granulosa cell populations. The mural granulosa cells line the wall of the follicle and are critical for steroidogenesis and ovulation." [] is_a: CL:0000501 ! granulosa cell property_value: IAO:0000117 "Drashtti Vasant" xsd:string [Term] id: EFO:0005290 name: Brown Norway xref: RGD:60985 is_a: NCBITaxon:10116 ! Rattus norvegicus property_value: IAO:0000117 "Drashtti Vasant" xsd:string [Term] id: EFO:0005291 name: Dark agouti xref: RGD:1357345 is_a: NCBITaxon:10116 ! Rattus norvegicus property_value: IAO:0000117 "Drashtti Vasant" xsd:string [Term] id: EFO:0005292 name: lymphoblastoid cell line is_a: CL:0000010 ! cultured cell [Term] id: EFO:0005293 name: B-lymphoblast synonym: "B cell lymphoblast" EXACT [] is_a: EFO:0000572 ! lymphoblast [Term] id: EFO:0005294 name: chronic myelogenous leukemia cell line is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line intersection_of: CL:0000010 ! cultured cell intersection_of: has_characteristic EFO:0000339 ! chronic myelogenous leukemia [Term] id: EFO:0005295 name: obsolete_migraine with aura def: "A type of `migraine` in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession." [] xref: DOID:10024 xref: HP:0002077 xref: ICD9:346.0 xref: MedDRA:10027607 xref: MeSH:D020325 xref: NCIt:C117005 xref: SNOMEDCT:4473006 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.38.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replaced with Mondo term\nsee https://github.com/ebispot/efo/issues/1381" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/MONDO_0005475 [Term] id: EFO:0005296 name: obsolete_migraine without aura def: "Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia. The definition of this term is based on the definition in the International Classification of Headache Disorders by the International Headache Society (pmid:15304572), which additionally stipulate that such headaches must have occurred at least five times and not other secondary cause must be apparent in order to make the diagnosis." [] xref: DOID:12783 xref: HP:0002083 xref: ICD9:346.1 xref: MedDRA:10052787 xref: MeSH:D020326 xref: NCIt:C117004 xref: SNOMEDCT:56097005 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.38.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replaced with Mondo term\nsee https://github.com/ebispot/efo/issues/1381" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/MONDO_0100431 [Term] id: EFO:0005297 name: Granulomatosis with Polyangiitis def: "A rare, autoimmune, systemic medium and small size vasculitis. It is characterized by the formation of necrotizing granulomas in the respiratory tract, necrotizing angiitis, and glomerulonephritis." [] def: "A small-vessel necrotizing vasculitis characterized by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis." [Orphanet:900] subset: ordo_disease {source="Orphanet:900"} synonym: "ANCA-associated vasculitis" BROAD [PMID:16887845, PMID:28148583] synonym: "GPA" EXACT ABBREVIATION [Orphanet:900] synonym: "granulomatosis - Wegener's" EXACT DEPRECATED [DOID:12132] synonym: "granulomatosis with polyangiitis" EXACT [OMIM:608710] synonym: "granulomatosis with polyangiitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Midline granulomatosis" RELATED [GARD:0007880] synonym: "necrotizing respiratory granulomatosis" EXACT [DOID:12132] synonym: "pauci-immune glomerulonephritis associated with granulomatosis with polyangiitis" EXACT [NCIT:C123111] synonym: "Wegener Granulomatosis" EXACT [] synonym: "Wegener granulomatosis" EXACT DEPRECATED [DOID:12132, OMIM:608710, Orphanet:900] synonym: "Wegener's granulomatosis" EXACT DEPRECATED [Orphanet:900] synonym: "Wegener's syndrome" EXACT [DOID:12132] synonym: "Wg" BROAD DEPRECATED [OMIM:608710] xref: DOID:12132 {source="MONDO:equivalentTo", source="EFO:0005297"} xref: ICD10:M31.3 xref: ICD10CM:M31.3 {source="Orphanet:900", source="MONDO:equivalentTo", source="Orphanet:900/e", source="DOID:12132"} xref: ICD9:446.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12132", source="EFO:0005297"} xref: MedDRA:10047888 {source="Orphanet:900", source="Orphanet:900/e"} xref: MedDRA:10072579 xref: MESH:D014890 {source="Orphanet:900", source="MONDO:equivalentTo", source="Orphanet:900/e", source="DOID:12132", source="EFO:0005297"} xref: MeSH:D014890 xref: MONDO:0012105 xref: NCIT:C123111 {source="MONDO:equivalentTo"} xref: NCIT:C3444 {source="MONDO:equivalentTo", source="DOID:12132", source="EFO:0005297"} xref: NCIt:C3444 xref: OMIM:608710 {source="Orphanet:900", source="MONDO:equivalentTo", source="Orphanet:900/e", source="DOID:12132"} xref: Orphanet:900 {source="MONDO:equivalentTo", source="OMIM:608710"} xref: SCTID:195353004 {source="MONDO:equivalentTo", source="DOID:12132", source="EFO:0005297"} xref: SNOMEDCT:195353004 xref: UMLS:C3495801 {source="Orphanet:900", source="MONDO:equivalentTo", source="DOID:12132"} xref: UMLS:C4050407 {source="MONDO:equivalentTo", source="NCIT:C123111"} is_a: EFO:0000540 {source="MONDO:Entailed"} ! immune system disease is_a: EFO:0005140 ! autoimmune disease is_a: MONDO:0002462 {source="NCIT:C123111"} ! glomerulonephritis is_a: MONDO:0015492 {source="MESH:D014890", source="Orphanet:900"} ! anti-neutrophil cytoplasmic antibody-associated vasculitis property_value: closeMatch http://identifiers.org/meddra/10047888 property_value: exactMatch DOID:12132 property_value: exactMatch http://identifiers.org/mesh/D014890 property_value: exactMatch http://identifiers.org/snomedct/195353004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3495801 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4050407 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/M31.3 property_value: exactMatch https://omim.org/entry/608710 property_value: exactMatch NCIT:C123111 property_value: exactMatch NCIT:C3444 property_value: exactMatch Orphanet:900 property_value: excluded_subClassOf MONDO:0019724 {source="Orphanet:900"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5261 xsd:anyURI [Term] id: EFO:0005298 name: allergic sensitization measurement def: "quantification of allergic sensitization status, for example through measurement of allergen-specific IgE in the blood or skin reaction after puncture of skin through a droplet of allergen extract (skin prick test)" [] is_a: EFO:0007008 ! allergy measurement relationship: IAO:0000136 MONDO:0005271 ! is_about allergic disease property_value: definition:citation http://europepmc.org/abstract/MED/23817571 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005299 name: non-word reading def: "non-word reading is the complex cognitive process of decoding symbols in order to derive that they do not form meaningful words" [] synonym: "non-word repetition" EXACT [] xref: NCIt:C92461 is_a: EFO:0005229 ! reading property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005300 name: word reading def: "word reading is the complex cognitive process of decoding symbols in order to construct or derive meaningful words" [] is_a: EFO:0005229 ! reading property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005301 name: reading and spelling ability def: "reading and spelling ability refers to the complex cognitive processes involved in assembling and decoding symbols in order to construct or derive words" [] is_a: EFO:0005229 ! reading property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005302 name: ChIP-exo def: "ChIP-exo is a chromatin immunoprecipitation based method for mapping the locations at which a protein of interest (transcription factor) binds to the genome. It is a modification of the ChIP-seq protocol, improving the resolution of binding sites from hundreds of base pairs to less than one base pair." [] is_a: EFO:0001456 ! DNA assay is_a: EFO:0005032 ! IP-seq relationship: RO:0000057 EFO:0002699 ! has_participant high throughput sequencer property_value: definition:citation http://en.wikipedia.org/wiki/ChIP-exo xsd:string [Term] id: EFO:0005303 name: sudden infant death syndrome def: "Unexpected death in infancy which remains unexplained following autopsy, review of the medical history, and investigation of the death circumstances and death scene." [] synonym: "crib death" EXACT [] synonym: "SIDS" EXACT [] xref: DOID:9007 xref: ICD9:798.0 xref: MedDRA:10042439 xref: MedDRA:10042440 xref: NCIt:C85173 xref: OMIM:272120 xref: SNOMEDCT:51178009 is_a: EFO:0000408 ! disease relationship: part_of EFO:0001355 ! infant relationship: RO:0002200 PATO:0001422 ! has phenotype dead property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005304 name: atrial conduction disease def: "atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted" [] def: "Atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted." [EFO:0005304] subset: ordo_disease {source="Orphanet:436242"} synonym: "atrial conduction disease" EXACT [] {comment="preferred label from MONDO"} synonym: "CARDIAC conduction disease with or without dilated cardiomyopathy" RELATED [MONDO:Lexical, OMIM:616117] synonym: "CCDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616117] synonym: "familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease" RELATED [Orphanet:436242] xref: MONDO:0014500 xref: OMIM:616117 {source="Orphanet:436242/e", source="EFO:0005304", source="MONDO:equivalentTo", source="Orphanet:436242"} xref: Orphanet:436242 {source="MONDO:equivalentTo"} xref: UMLS:C4015285 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0005137 {source="EFO:0005304"} ! conduction system disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015285 property_value: exactMatch https://omim.org/entry/616117 property_value: exactMatch Orphanet:436242 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005305 name: atrioventricular node disease def: "A disease involving the atrioventricular node." [MONDO:patterns/location_top] def: "atrioventricular node disease is a form of heart disease in which the conduction of the atrioventricular nodes is disrupted" [] synonym: "atrioventricular conduction block" EXACT [] synonym: "atrioventricular conduction disease" EXACT [] synonym: "atrioventricular node disease" EXACT [MONDO:patterns/location] synonym: "atrioventricular node disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "atrioventricular node disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "disease of atrioventricular node" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of atrioventricular node" EXACT [] synonym: "disorder of atrioventricular node" EXACT [MONDO:patterns/location_top] xref: MONDO:0005476 is_a: EFO:0002970 ! muscular disease is_a: EFO:0005137 {source="EFO:0005305", source="MONDO:Entailed", source="MONDO:Redundant"} ! conduction system disorder relationship: EFO:0000784 UBERON:0002352 ! has_disease_location atrioventricular node property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005306 name: ventricular tachycardia def: "A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC)" [NCIT:P378] synonym: "ventricular tachycardia" EXACT [] {comment="preferred label from MONDO"} xref: ICD10CM:I47.2 {source="MONDO:equivalentTo"} xref: MedDRA:10047302 xref: MESH:D017180 {source="MONDO:equivalentTo"} xref: MONDO:0005477 xref: NCIT:C50802 {source="EFO:0005306", source="MONDO:equivalentTo"} xref: NCIt:C50802 xref: SCTID:25569003 {source="EFO:0005306", source="MONDO:equivalentTo"} xref: SNOMEDCT:25569003 xref: UMLS:C0042514 {source="NCIT:C50802", source="MONDO:equivalentTo"} is_a: EFO:0004269 ! cardiac arrhythmia is_a: MONDO:0007263 {source="EFO:0005306", source="NCIT:C50802"} ! cardiac rhythm disease property_value: exactMatch http://identifiers.org/mesh/D017180 property_value: exactMatch http://identifiers.org/snomedct/25569003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042514 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/I47.2 property_value: exactMatch NCIT:C50802 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005307 name: torsades de pointes def: "A malignant form of polymorphic ventricular tachycardia that is characterized by heart rate between 200 and 250 beats per minute, and qrs complexes with changing amplitude and twisting of the points. The term also describes the syndrome of tachycardia with prolonged ventricular repolarization, long qt intervals exceeding 500 milliseconds or bradycardia. Torsades de pointes may be self-limited or may progress to ventricular fibrillation." [MESH:D016171] def: "A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG." [] synonym: "torsade de pointes" EXACT [] synonym: "torsades de pointes" EXACT [] {comment="preferred label from MONDO"} xref: HP:0001664 {source="MONDO:otherHierarchy", source="EFO:0005307"} xref: MedDRA:10044067 xref: MESH:D016171 {source="MONDO:equivalentTo", source="EFO:0005307"} xref: MeSH:D016171 xref: MONDO:0005478 xref: SCTID:31722008 {source="MONDO:equivalentTo", source="EFO:0005307"} xref: SNOMEDCT:31722008 xref: UMLS:C0040479 {source="MONDO:equivalentTo"} is_a: EFO:0005306 {source="EFO:0005307", source="MESH:D016171"} ! ventricular tachycardia property_value: exactMatch http://identifiers.org/mesh/D016171 property_value: exactMatch http://identifiers.org/snomedct/31722008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040479 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005308 name: atrial tachycardia def: "A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate between 101 and 240 beats per minute. The P wave morphology must be distinct from the sinus P wave morphology. (CDISC)" [NCIT:P378] synonym: "atrial tachycardia" EXACT [] {comment="preferred label from MONDO"} xref: ICD9:427.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10003668 xref: MONDO:0005479 xref: NCIT:C35481 {source="MONDO:equivalentTo", source="EFO:0005308"} xref: NCIt:C35481 xref: SCTID:276796006 {source="MONDO:equivalentTo", source="EFO:0005308"} xref: SNOMEDCT:276796006 is_a: EFO:0004269 ! cardiac arrhythmia is_a: MONDO:0007263 {source="EFO:0005308", source="NCIT:C35481/inferred"} ! cardiac rhythm disease property_value: exactMatch http://identifiers.org/snomedct/276796006 property_value: exactMatch NCIT:C35481 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005309 name: Ta stage def: "Ta stage is a bladder carcinoma stage characterised by non-invasive papillary carcinoma, sometimes called superficial bladder carcinoma. These are early stage cancers that are found only in the lining of the innermost layer of bladder and are considered one of the more treatable forms of bladder cancer." [] is_a: EFO:0004928 ! T stage [Term] id: EFO:0005310 name: RIP-seq def: "A method used for finding which RNA species interact with a particular RNA-binding protein. It involves immunoprecipitation with antibodies for the protein and then isolation of the RNAs associated with the protein. Unlike CLIP-seq, no cross-linking of RNAs and proteins is carried out prior to immunoprecipitation." [] is_a: EFO:0005032 ! IP-seq property_value: IAO:0000117 "Amy Tang" xsd:string [Term] id: EFO:0005313 name: picomole per microliter synonym: "pmol/ul" EXACT [] is_a: UO:0000051 ! concentration unit property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005314 name: femtomole per nanogram synonym: "fmol/ng" EXACT [] is_a: UO:0000051 ! concentration unit property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005315 name: induced mutation def: "A genetic transformation that the modification of the genetic material (either coding or non-coding) of an organism is caused by mutagenic compounds or irradiation" [] xref: NCIt:C40987 is_a: EFO:0000510 ! genetic modification property_value: definition:citation "OBI_0001154" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005316 name: sample pooling def: "Physical combination of several instances of like material, eg RNA extracted from samples or dishes of cell cultures into one big aliquot of cells." [] synonym: "pooling of specimens" EXACT [] is_a: EFO:0002694 ! experimental process property_value: definition:citation "OBI_0600016" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005318 name: axial length measurement def: "quantification of the distance between the anterior surface of the cornea and the fovea, usually measured by A-scan ultrasonography or optical coherence biometry" [] synonym: "AL" EXACT [] synonym: "axial length" EXACT [] synonym: "ocular axial length" EXACT [] xref: SNOMEDCT:251692002 is_a: EFO:0004731 ! eye measurement relationship: IAO:0000136 UBERON:0000970 ! is_about eye property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005319 name: contact dermatitis def: "a type of skin inflammation (dermatitis) that results from exposure to allergens (allergic contact dermatitis) or irritants (irritant contact dermatitis)" [] def: "An inflammatory skin condition caused by direct contact between the skin and either an irritating substance or an allergen." [NCIT:C26743] synonym: "contact dermatitis" EXACT [] {comment="preferred label from MONDO"} synonym: "contact dermatitis" EXACT [NCIT:C26743] synonym: "contact dermatitis/eczema" EXACT [DOID:2773] synonym: "contact eczema" NARROW [DOID:2773] synonym: "dermatitis venenata" EXACT [DOID:2773] synonym: "dermatitis, venenata" EXACT [DOID:2773] xref: DOID:2773 {source="MONDO:equivalentTo", source="EFO:0005319"} xref: ICD10:L25 xref: ICD9:692.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:692.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10010790 xref: MedDRA:10012442 xref: MESH:D003877 {source="DOID:2773", source="MONDO:equivalentTo"} xref: MONDO:0005480 xref: NCIT:C26743 {source="DOID:2773", source="MONDO:equivalentTo", source="EFO:0005319"} xref: NCIt:C26743 xref: SCTID:40275004 {source="DOID:2773", source="MONDO:equivalentTo", source="EFO:0005319"} xref: SNOMEDCT:40275004 xref: UMLS:C0011616 {source="DOID:2773", source="MONDO:equivalentTo", source="NCIT:C26743"} is_a: MONDO:0002406 {source="DOID:2773", source="MESH:D003877", source="NCIT:C26743"} ! dermatitis is_a: MONDO:0005271 ! allergic disease property_value: exactMatch DOID:2773 property_value: exactMatch http://identifiers.org/mesh/D003877 property_value: exactMatch http://identifiers.org/snomedct/40275004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011616 property_value: exactMatch NCIT:C26743 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005320 name: contact dermatitis due to nickel def: "A form of allergic contact dermatitis that results from exposure to nickel" [EFO:0005320] def: "a form of allergic contact dermatitis that results from exposure to nickel" [] synonym: "contact dermatitis due to nickel" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0005481 xref: SCTID:93419003 {source="MONDO:equivalentTo", source="EFO:0005320"} xref: SNOMEDCT:93419003 xref: UMLS:C0684345 {source="MONDO:equivalentTo"} is_a: EFO:0005319 {source="EFO:0005320", source="MONDO:Redundant"} ! contact dermatitis property_value: exactMatch http://identifiers.org/snomedct/93419003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0684345 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005321 name: molar-incisor hypomineralization def: "A hypomineralisation of systemic origin of one to four permanent first molars frequently associated with affected incisors." [] synonym: "MIH" EXACT [] is_a: EFO:0000524 ! head and neck disorder is_a: EFO:1001216 ! tooth disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005322 name: callous-unemotional behaviour def: "bavioural manifestation including low levels of empathy, absence of guilt and emotional unresponsiveness" [] is_a: GO:0007610 ! behavior property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005323 name: post-operative sign or symptom def: "clinical manifestation that occurs as a result of a surgical intervention" [] is_a: EFO:0003765 ! sign or symptom property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005324 name: post-operative sensory disturbance def: "sensory disturbance, such as hypoesthesia or dysesthesia, that occurs as a result of a surgical intervention, possibly but not necessarily due to a nerve injury" [] is_a: EFO:0005323 ! post-operative sign or symptom property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005325 name: response to angiotensin-converting enzyme inhibitor def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antiotensin-converting enzyme inhibitor." [] is_a: GO:0009410 ! response to xenobiotic stimulus relationship: IAO:0000136 CHEBI:35457 ! is_about EC 3.4.15.1 (peptidyl-dipeptidase A) inhibitor property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005332 name: GM18505 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000383 ! has_quality female relationship: RO:0001000 HANCESTRO:0575 ! derives_from Yoruban [Term] id: EFO:0005333 name: GM08714 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000383 ! has_quality female relationship: RO:0001000 HANCESTRO:0005 ! derives_from European [Term] id: EFO:0005334 name: GM10248 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000384 ! has_quality male relationship: RO:0001000 HANCESTRO:0005 ! derives_from European [Term] id: EFO:0005335 name: GM10266 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000384 ! has_quality male relationship: RO:0001000 HANCESTRO:0005 ! derives_from European [Term] id: EFO:0005336 name: GM10847 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000383 ! has_quality female relationship: RO:0001000 HANCESTRO:0005 ! derives_from European [Term] id: EFO:0005337 name: GM12864 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000384 ! has_quality male relationship: RO:0001000 HANCESTRO:0005 ! derives_from European [Term] id: EFO:0005338 name: GM12865 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000383 ! has_quality female relationship: RO:0001000 HANCESTRO:0005 ! derives_from European [Term] id: EFO:0005339 name: GM12866 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000384 ! has_quality male relationship: RO:0001000 HANCESTRO:0005 ! derives_from European [Term] id: EFO:0005340 name: GM12867 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000383 ! has_quality female relationship: RO:0001000 HANCESTRO:0005 ! derives_from European [Term] id: EFO:0005341 name: GM12868 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000383 ! has_quality female relationship: RO:0001000 HANCESTRO:0005 ! derives_from European [Term] id: EFO:0005342 name: GM12869 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000383 ! has_quality female relationship: RO:0001000 HANCESTRO:0005 ! derives_from European [Term] id: EFO:0005343 name: GM12870 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000384 ! has_quality male relationship: RO:0001000 HANCESTRO:0005 ! derives_from European [Term] id: EFO:0005344 name: GM12871 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000384 ! has_quality male relationship: RO:0001000 HANCESTRO:0005 ! derives_from European [Term] id: EFO:0005345 name: GM13976 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000383 ! has_quality female relationship: RO:0001000 HANCESTRO:0005 ! derives_from European [Term] id: EFO:0005346 name: GM13977 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000383 ! has_quality female relationship: RO:0001000 HANCESTRO:0005 ! derives_from European [Term] id: EFO:0005347 name: GM15510 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping [Term] id: EFO:0005348 name: GM18526 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000383 ! has_quality female relationship: RO:0001000 HANCESTRO:0027 ! derives_from Han Chinese [Term] id: EFO:0005349 name: GM18951 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000383 ! has_quality female relationship: RO:0001000 HANCESTRO:0019 ! derives_from Japanese [Term] id: EFO:0005350 name: GM19099 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000383 ! has_quality female relationship: RO:0001000 HANCESTRO:0575 ! derives_from Yoruban [Term] id: EFO:0005351 name: GM19193 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000383 ! has_quality female relationship: RO:0001000 HANCESTRO:0575 ! derives_from Yoruban [Term] id: EFO:0005352 name: GM20000 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0005353 name: GM12801 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000384 ! has_quality male relationship: RO:0001000 HANCESTRO:0005 ! derives_from European [Term] id: EFO:0005354 name: milligram per kilogram body weight synonym: "mg/kg body weight" EXACT [] xref: SNOMEDCT:228920005 is_a: UO:0000051 ! concentration unit property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005355 name: HUES1 def: "A human embryonic stem cell line" [] synonym: "HUES-1" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0003040 ! embryonic cell line is_a: EFO:0005738 ! ESC derived cell line property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005356 name: CAL120 synonym: "CAL-120" EXACT [] is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005357 name: CAL148 synonym: "CAL-148" EXACT [] is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005358 name: CAL51 synonym: "CAL-51" EXACT [] is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005359 name: CAL851 synonym: "CAL-85-1" EXACT [] is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005360 name: CCD-11Lu synonym: "http://www.lgcstandards-atcc.org/products/all/CCL-202.aspx" EXACT [] is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002922 ! normal cell line relationship: RO:0000086 PATO:0000461 ! has_quality normal property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005361 name: CCD-13Lu synonym: "http://www.lgcstandards-atcc.org/products/all/CCL-200.aspx" EXACT [] is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002922 ! normal cell line relationship: RO:0000086 PATO:0000461 ! has_quality normal property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005362 name: CCD-16Lu is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002922 ! normal cell line relationship: RO:0000086 PATO:0000461 ! has_quality normal property_value: definition:citation http://www.lgcstandards-atcc.org/products/all/CCL-204.aspx xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005363 name: CCD-19Lu is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002922 ! normal cell line relationship: RO:0000086 PATO:0000461 ! has_quality normal property_value: definition:citation http://www.lgcstandards-atcc.org/products/all/CCL-210.aspx xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005364 name: CCD-25Lu is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line property_value: definition:citation http://www.lgcstandards-atcc.org/products/all/CCL-215.aspx xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005365 name: CCD-29Lu is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line property_value: definition:citation http://www.lgcstandards-atcc.org/products/all/CRL-1478.aspx xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005366 name: CCD-33Lu is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002922 ! normal cell line relationship: RO:0000086 PATO:0000461 ! has_quality normal property_value: definition:citation http://www.lgcstandards-atcc.org/products/all/CRL-1490.aspx xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005367 name: CCD-8Lu is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002922 ! normal cell line relationship: RO:0000086 PATO:0000461 ! has_quality normal property_value: definition:citation http://www.lgcstandards-atcc.org/products/all/CCL-201.aspx xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005368 name: HFL1 synonym: "CCL-153" EXACT [] xref: BTO:0002582 xref: CLO:0003734 xref: RRID:CVCL_0298 is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005369 name: Granta-519 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000574 ! lymphoma property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005370 name: HCC2998 synonym: "HCC-2998" EXACT [] xref: NCIt:C117160 is_a: BTO:0003250 ! colonic epithelium cell line is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000228 ! adenocarcinoma property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005371 name: HCC1195 synonym: "HCC-1195" EXACT [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000313 ! carcinoma property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005372 name: HCC1419 synonym: "HCC-1419" EXACT [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005215 ! breast adenocarcinoma cell line relationship: has_characteristic EFO:0006318 ! breast ductal adenocarcinoma property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005373 name: HCC1806 synonym: "HCC-1806" EXACT [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000707 ! squamous cell carcinoma property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005374 name: HCC227 synonym: "HCC-2279" EXACT [] xref: PMID:10353731 xref: PMID:20679594 xref: PMID:25485619 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000313 ! carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005375 name: HCC2935 synonym: "HCC-2935" EXACT [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000228 ! adenocarcinoma property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005376 name: UACC-257 synonym: "UACC.257" EXACT [] xref: NCIt:C117191 is_a: BTO:0000849 ! melanoma cell line relationship: has_characteristic EFO:0000756 ! melanoma property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005377 name: UACC-62 synonym: "UACC.62" EXACT [] xref: NCIt:C117192 is_a: BTO:0000849 ! melanoma cell line relationship: has_characteristic EFO:0000756 ! melanoma property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005382 name: HepG3 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005216 ! hepatoma cell line relationship: has_characteristic EFO:0000182 ! hepatocellular carcinoma relationship: RO:0001000 EFO:0001187 ! derives_from HepG2 [Term] id: EFO:0005383 name: HMEC1 synonym: "HMEC-1" EXACT [] synonym: "Hmec-1" EXACT [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002888 ! Homo sapiens cell line [Term] id: EFO:0005384 name: HuH-7 def: "HuH-7 is a well differentiated hepatocyte derived cellular carcinoma cell line that was originally taken from a liver tumor in a 57-year-old Japanese male in 1982. The line was established by Nakabayshi, H. and Sato, J. HuH-7 is an immortal cell line of epithelial-like tumorigenic cells. It usually grow in 2D monolayers." [] synonym: "Huh-7" EXACT [] synonym: "Huh7" EXACT [] xref: BTO:0001950 xref: CLO:0009989 xref: RRID:CVCL_0336 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005216 ! hepatoma cell line relationship: has_characteristic EFO:0000182 ! hepatocellular carcinoma relationship: part_of HANCESTRO:0019 ! Japanese relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://cellbank.nibio.go.jp/legacy/celldata/jcrb0403.htm xsd:string [Term] id: EFO:0005385 name: IGROV-1 synonym: "Igrov-1" EXACT [] is_a: EFO:0002394 ! ovarian cancer cell lines is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0001075 ! ovarian carcinoma [Term] id: EFO:0005386 name: INA-6 is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000565 ! leukemia [Term] id: EFO:0005387 name: JeKo-1 synonym: "JEKO-1" EXACT [] xref: RRID:CVCL_1865 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line is_a: EFO:0005292 ! lymphoblastoid cell line relationship: has_characteristic EFO:0000574 ! lymphoma relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0005388 name: JIMT-1 def: "Source : Pleural effusion, Ductal breast cancer (grade 3 invasive, T2N1M0)\nKaryotype : Highly rearranged hyperdiploid karyotype with 6% polyploidy\nCarry an amplified HER-2 oncogene and to be insensitive to HER-2-inhibiting drugs" [] synonym: "JIMT1" EXACT [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation " http://bioinfoweb.com/CLDB-JIMT-1.htm" xsd:string property_value: definition:citation http://www.broadinstitute.org/ccle/cell%20lines/JIMT1_BREAST xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0005389 name: KARPAS 231 synonym: "KARPAS-231" EXACT [] synonym: "Karpas-231" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000094 ! B-cell acute lymphoblastic leukemia relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0005390 name: KARPAS 299 synonym: "KARPAS-299" EXACT [] synonym: "Karpas-299" EXACT [] xref: BTO:0002829 xref: CLO:0007065 xref: RRID:CVCL_1324 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000574 ! lymphoma relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0005391 name: LA-N-1 synonym: "LAN-1" EXACT [] synonym: "LAN1" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005214 ! neuroblastoma cell line relationship: has_characteristic EFO:0000621 ! neuroblastoma relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0005392 name: LAPC-4 synonym: "LAPC4" EXACT [] is_a: BTO:0001033 ! prostate cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0001663 ! prostate carcinoma [Term] id: EFO:0005393 name: LAPC-9 synonym: "LAPC9" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line [Term] id: EFO:0005394 name: MLO-Y4 is_a: EFO:0002887 ! mouse cell line [Term] id: EFO:0005395 name: MUTZ-3 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000222 ! acute myeloid leukemia [Term] id: EFO:0005396 name: exome sequencing def: "Exome sequencing, also known as whole exome sequencing (WES), is a genomic technique for sequencing all of the protein-coding regions of genes in a genome (known as the exome). Exons (the subset of DNA that encodes proteins) are selected, and the exonic DNA is then sequenced using any high-throughput DNA sequencing technology." [https://orcid.org/0000-0002-2825-0621, WikipediaVersioned:Exome_sequencing&oldid=1000635953] synonym: "targeted exome capture" EXACT [] synonym: "WES" RELATED [] synonym: "whole exome sequencing" EXACT [] is_a: EFO:0001456 ! DNA assay is_a: EFO:0002697 ! assay by high throughput sequencer property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0005397 name: high content analysis of cells def: "An image analysis technique combining automated microscopy, robotic handling, and quantitative image analysis for the large scale study of cells." [] comment: Elenor Williams' note: Is high content analysis the same as high content screen? You could have high content analysis of only a few cells, but high content screen indicates that many cells or perturbations are analysed simultaneously\n\nSira's response: seperate out HCA and HCS. This is different from ERO where HCA and HCS are seen synonymous. HCS is thus a subclass of HCA in EFO. synonym: "HCA" EXACT [] is_a: EFO:0002694 ! experimental process property_value: IAO:0000117 "Ian Streeter, Hipsci project" xsd:string [Term] id: EFO:0005398 name: high content analysis of cells by molecular content def: "An image analysis technique to characterise the molecular content of cells by combining automated microscopy, robotic handling, and quantitative image analysis." [] synonym: "protein screen" EXACT [] synonym: "protein screening" EXACT [] is_a: EFO:0005397 ! high content analysis of cells property_value: IAO:0000117 "Ian Streeter, Hipsci project" xsd:string [Term] id: EFO:0005399 name: high content analysis of cells by morphological and physical properties def: "An image analysis technique to characterise the morphological and physical properties of cells by combining automated microscopy, robotic handling, and quantitative image analysis." [] is_a: EFO:0005397 ! high content analysis of cells property_value: IAO:0000117 "Ian Streeter, Hipsci project" xsd:string [Term] id: EFO:0005400 name: chemotherapy-induced alopecia def: "hair loss as a result of chemotherapy treatment" [] def: "Hair loss as a result of chemotherapy treatment." [EFO:0005400] synonym: "chemotherapy-induced alopecia" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0005483 xref: NCIT:C164162 {source="MONDO:equivalentTo"} is_a: EFO:0000524 ! head and neck disorder is_a: MONDO:0004907 {source="EFO:0005400"} ! alopecia is_a: MONDO:0021034 ! hereditary alopecia is_a: Orphanet:68346 ! Rare genetic skin disease relationship: EFO:0000784 UBERON:0000033 ! has_disease_location head property_value: exactMatch NCIT:C164162 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005401 name: response to high sodium diet def: "physiological response of an organism, eg in terms of blood pressure, to being fed a diet high in sodium" [] is_a: EFO:0010757 ! response to diet property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005402 name: response to low sodium diet def: "physiological response of an organism, eg in terms of blood pressure, to being fed a diet low in sodium" [] is_a: EFO:0010757 ! response to diet property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005403 name: response to dietary potassium supplementation def: "Physiological response of an organism to being given potassium as a dietary supplement." [] is_a: EFO:0010757 ! response to diet relationship: IAO:0000136 CHEBI:26216 ! is_about potassium atom property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005404 name: response to cold pressor test def: "physiological response, in terms of blood pressure, heart rate or pain, to a cardiovascular test performed by immersing the hand into ice water, usually for one minute " [] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005405 name: response to antihypertensive drug def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antihypertensive drug." [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005406 name: colorectal adenoma alt_id: MONDO:0000529 def: "An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis." [NCIT:C5673] comment: We follow NCIT in treating colorectal adenoma and large intestine adenoma as equivalent. synonym: "adenoma of large bowel" EXACT [NCIT:C5673] synonym: "adenoma of large intestine" EXACT [NCIT:C5673] synonym: "adenoma of the large bowel" EXACT [NCIT:C5673] synonym: "adenoma of the large intestine" EXACT [NCIT:C5673] synonym: "colorectal adenoma" EXACT [] {comment="preferred label from MONDO"} synonym: "colorectal adenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "colorectal adenoma" EXACT [NCIT:C5673] synonym: "colorectum adenoma" EXACT [MONDO:patterns/location] synonym: "large bowel adenoma" EXACT [NCIT:C5673] synonym: "large intestine adenoma" EXACT [NCIT:C5673] xref: DOID:0050860 {source="MONDO:equivalentTo", source="EFO:0005406"} xref: DOID:0050914 {source="MONDO:equivalentTo"} xref: EFO:0005406 {source="MONDO:equivalentTo"} xref: MONDO:0005484 xref: NCIT:C5673 {source="MONDO:equivalentTo", source="EFO:0005406"} xref: SCTID:399432003 {source="MONDO:equivalentTo"} xref: UMLS:C1302401 {source="NCIT:C5673", source="MONDO:equivalentTo"} is_a: EFO:0004142 {source="EFO:0005406", source="MONDO:Redundant", source="NCIT:C5673"} ! colorectal neoplasm is_a: EFO:1000217 {source="MONDO:Redundant", source="NCIT:C5673"} ! Digestive System Adenoma property_value: exactMatch DOID:0050860 property_value: exactMatch DOID:0050860 property_value: exactMatch DOID:0050914 property_value: exactMatch DOID:0050914 property_value: exactMatch http://identifiers.org/snomedct/399432003 property_value: exactMatch http://identifiers.org/snomedct/399432003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1302401 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1302401 property_value: exactMatch NCIT:C5673 property_value: exactMatch NCIT:C5673 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/adenoma.yaml [Term] id: EFO:0005407 name: psychosis def: "A disorder characterized by personality change, impaired functioning, and loss of touch with reality. It may be a manifestation of schizophrenia, bipolar disorder or brain tumor." [] def: "An abnormal condition of the mind that involves a loss of contact with reality. People experiencing psychosis may exhibit personality changes and thought disorder. Depending on its severity, this may be accompanied by unusual or bizarre behavior, as well as difficulty with social interaction and impairment in carrying out daily life activities." [Wikipedia:Psychosis] synonym: "mental or behavioral disorder" BROAD [DOID:2468] synonym: "mental or behavioural disorder" BROAD OMO:0003005 [] synonym: "psychosis" EXACT [MONDO:ambiguous] synonym: "psychotic disorder" EXACT [] {comment="preferred label from MONDO"} xref: DOID:2468 {source="MONDO:equivalentTo"} xref: HP:0000709 {source="MONDO:otherHierarchy"} xref: ICD9:298.8 {source="DOID:2468"} xref: ICD9:298.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10037234 xref: MedDRA:10061920 xref: MONDO:0005485 xref: NCIT:C78576 {source="MONDO:equivalentTo", source="EFO:0005407"} xref: NCIt:C78576 xref: SCTID:69322001 {source="MONDO:equivalentTo"} is_a: EFO:0000677 {source="EFO:0005407"} ! mental or behavioural disorder is_a: MONDO:0002039 {source="DOID:2468"} ! cognitive disorder property_value: exactMatch DOID:2468 property_value: exactMatch http://identifiers.org/snomedct/69322001 property_value: exactMatch NCIT:C78576 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005408 name: pyroglutamine measurement def: "the quantification of pyroglutamine, a metabolite significantly associated with increased risk of heart failure" [] is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005409 name: fat body mass def: "The weight of the individual's body fat." [] synonym: "total body fat measurement" EXACT [] is_a: EFO:0004302 ! anthropometric measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005410 name: tooth agenesis def: "A rare developmental dental anomaly in humans characterized by the absence of six or more teeth." [https://orcid.org/0000-0001-5208-3432, Orphanet:99798] def: "Failure of some or all of an individual's teeth to develop.It occurs most often in the third molar (wisdom tooth)." [] subset: ordo_morphological_anomaly {source="Orphanet:99798"} synonym: "familial tooth agenesis" EXACT [DOID:0050591] synonym: "hypodontia" EXACT [DOID:0050591, Orphanet:2227] synonym: "oligodontia" EXACT [DOID:0050591] synonym: "selective tooth agenesis" EXACT [DOID:0050591, Orphanet:99798] synonym: "tooth agenesis" EXACT [] {comment="preferred label from MONDO"} synonym: "tooth agenesis, selective" RELATED [OMIMPS:106600] xref: DOID:0050591 {source="EFO:0005410", source="MONDO:equivalentTo"} xref: ICD10:K00 xref: ICD10CM:K00.0 {source="Orphanet:99798/ntbt", source="Orphanet:99798", source="DOID:0050591", source="MONDO:directSiblingOf", source="Orphanet:99798/inclusion"} xref: ICD9:520.0 {source="DOID:0050591"} xref: MESH:D000848 {source="DOID:0050591", source="MONDO:directSiblingOf"} xref: MONDO:0005486 xref: OMIM:617275 xref: OMIMPS:106600 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:2227 {source="MONDO:equivalentObsolete", source="DOID:0050591"} xref: Orphanet:99798 {source="MONDO:equivalentTo", source="DOID:0050591"} xref: SCTID:16958000 {source="DOID:0050591", source="MONDO:directSiblingOf"} xref: SCTID:64969001 {source="MONDO:equivalentTo"} xref: UMLS:CN169366 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0000524 ! head and neck disorder is_a: EFO:1001216 {source="DOID:0050591"} ! tooth disease property_value: exactMatch DOID:0050591 property_value: exactMatch http://identifiers.org/snomedct/64969001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN169366 property_value: exactMatch https://omim.org/phenotypicSeries/PS106600 property_value: exactMatch Orphanet:99798 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005411 name: schizoaffective disorder def: "A disorder in which the individual suffers from both symptoms that qualify as schizophrenia and symptoms that qualify as a mood disorder (e.g., depression or bipolar disorder) for a substantial portion (but not all) of the active period of the illness; for the remainder of the active period of the illness, the individual suffers from delusions or hallucinations in the absence of prominent mood symptoms." [NCIT:P378] synonym: "schizoaffective disorder" EXACT [] {comment="preferred label from MONDO"} xref: DOID:5418 {source="EFO:0005411", source="MONDO:equivalentTo"} xref: ICD10:F25 xref: ICD9:295.7 {source="EFO:0005411", source="DOID:5418"} xref: MedDRA:10039621 xref: MONDO:0005487 xref: NCIT:C94378 {source="EFO:0005411", source="MONDO:equivalentTo", source="DOID:5418"} xref: NCIt:C94378 xref: SNOMEDCT:68890003 is_a: EFO:0005407 {source="DOID:5418", source="MONDO:cjm"} ! psychosis property_value: exactMatch DOID:5418 property_value: exactMatch NCIT:C94378 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005412 name: functional impairment measurement def: "quantification of the effect of persistent interference in daily life activities and role performance by psychiatric conditions or related symptoms, usually established through a combination of medical assessments and questionnaires " [] is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005413 name: joint damage measurement def: "quantification of the level of joint damage, eg through radiological analysis" [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:0000685 ! is_about rheumatoid arthritis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005414 name: airway hyperresponsiveness def: "one of the primary characteristics of asthma, characterised by easily triggered increased airway smooth muscle contractility" [] xref: MP:0001952 is_a: HP:0002086 ! Abnormality of the respiratory system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005415 name: serum alpha-1-antitrypsin measurement def: "quantification of the protease inhibitor alpha-1-antitrypsin in the blood. The test is used in the diagnosis of early onset emphysema and liver disease." [] synonym: "serum AAT measurement" EXACT [] is_a: EFO:0004813 ! alpha globulin measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein property_value: definition:citation http://labtestsonline.org.uk/understanding/analytes/alpha1-antitrypsin/ xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005416 name: serum ST2 measurement def: "A soluble ST2 measurement is the quantification of the ST2 protein, also known as Interleukin-1 receptor-like 1 or IL1RL1. The protein ST2 levels are associated with adverse cardiovascular events." [] synonym: "soluble ST2 measurement" EXACT [] synonym: "soluble suppression of tumorigenicity 2 measurement" EXACT [] synonym: "sST2 measurement" EXACT [] is_a: EFO:0004747 ! protein measurement is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease property_value: definition:citation http://europepmc.org/abstract/MED/25802475 xsd:string property_value: definition:citation http://europepmc.org/abstract/MED/25949827 xsd:string property_value: definition:citation http://www.uniprot.org/uniprot/Q01638 xsd:string property_value: definition:citation https://en.wikipedia.org/wiki/ST2_cardiac_biomarker xsd:string property_value: definition:citation "IL1Rl1 measurement" xsd:string property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0005417 name: response to mTOR inhibitor def: "response to treatment with an inhibitor of mTOR (mammalian Target Of Rapamycin), such as everolimus or rapamycin" [] is_a: GO:0097327 ! response to antineoplastic agent property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005418 name: serum dimethylarginine measurement def: "quantification of symmetric or asymmetric dimethylarginine in the blood" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005419 name: contrast sensitivity measurement def: "quantificiation of ability to detect sharp boundaries (stimuli) and to detect slight changes in luminance at regions without distinct contours. Psychophysical measurements of this visual function are used to evaluate visual acuity and to detect eye disease." [] is_a: EFO:0004731 ! eye measurement relationship: IAO:0000136 EFO:0003966 ! is_about eye disease relationship: IAO:0000136 UBERON:0000970 ! is_about eye property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005420 name: grey matter volume measurement def: "quantification of the volume of grey matter in the brain, usuallly through an MRI scan. Grey matter volume is associated with schizophrenia." [] is_a: EFO:0006848 ! mental or behavioural disorder biomarker is_a: EFO:0006930 ! brain volume measurement relationship: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder relationship: IAO:0000136 EFO:0001715 ! is_about volume relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005421 name: serum homoarginine measurement def: "quantification of the amino acid derivate homoarginine in the blood. Low levels are associated with cardiovascular disease risk and for stroke in patients undergoing coronoary angiograpahy and decreased kidney function" [] synonym: "serum homoarginine levels" EXACT [] is_a: EFO:0001444 ! measurement property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/21311067 xsd:string property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/24398889 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005422 name: skin aging def: "The gradual irreversible changes in structure of skin that occur as a result of the passage of time.. In humans, skin aging can be precipitated as a result of weather and sun exposure, and expresses through the appearance of wrinkles and localised changes in skin pigmentation" [] xref: MeSH:D015595 xref: SNOMEDCT:26065007 is_a: GO:0007568 ! aging property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0005423 name: adolescent idiopathic scoliosis def: "A scoliosis with no known cause arising in adolescent." [EFO:0005423] synonym: "adolescent idiopathic scoliosis" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0005488 xref: OMIM:608765 xref: Orphanet:3153 {source="MONDO:equivalentObsolete"} xref: SCTID:203646004 {source="EFO:0005423", source="MONDO:equivalentTo"} xref: SNOMEDCT:203646004 is_a: MONDO:0000726 {source="MONDO:pnr", source="https://github.com/monarch-initiative/mondo/issues/484"} ! idiopathic scoliosis property_value: exactMatch http://identifiers.org/snomedct/203646004 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005424 name: dyslexia def: "A learning disorder characterized by an impairment in processing written words. Reading difficulties can include distortions, omissions or substitutions of characters. Oral and silent reading difficulties can include faulty and slow comprehension." [NCIT:P378] synonym: "dyslexia" EXACT [] {comment="preferred label from MONDO"} synonym: "dyslexia" EXACT [MONDO:ambiguous] synonym: "dyslexia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:4428 {source="EFO:0005424", source="MONDO:equivalentTo"} xref: HP:0010522 {source="MONDO:otherHierarchy"} xref: MedDRA:10013932 xref: MESH:D004410 {source="https://orcid.org/0000-0003-1967-3726", source="EFO:0005424", source="MONDO:equivalentTo", source="DOID:4428"} xref: MeSH:D004410 xref: MONDO:0005489 xref: NCIT:C96410 {source="EFO:0005424", source="MONDO:equivalentTo", source="DOID:4428"} xref: NCIt:C96410 xref: OMIM:127700 xref: OMIM:600202 xref: SNOMEDCT:59770006 is_a: MONDO:0001697 {source="DOID:4428"} ! reading disorder property_value: exactMatch DOID:4428 property_value: exactMatch http://identifiers.org/mesh/D004410 property_value: exactMatch NCIT:C96410 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000589 "dyslexia (disease)" xsd:string [Term] id: EFO:0005425 name: language impairment def: "A communication disorder that involves the processing of linguistic information." [] synonym: "disorder of language" EXACT [] synonym: "language disorder" EXACT [] synonym: "SLI5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615432] synonym: "specific language impairment 5" EXACT [] {comment="preferred label from MONDO"} synonym: "specific language impairment 5" EXACT [OMIM:615432] synonym: "specific language impairment type 5" EXACT [MONDORULE:1, OMIM:615432] xref: DOID:93 xref: MONDO:0014184 xref: OMIM:615432 {source="EFO:0005425", source="MONDO:equivalentTo"} xref: SNOMEDCT:62305002 xref: UMLS:C3809483 {source="OMIM:615432", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:1001510 {source="DC-OMIM:615432", source="OMIM:615432"} ! specific language impairment property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809483 property_value: exactMatch https://omim.org/entry/615432 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005426 name: autism spectrum disorder symptom def: "Symptom associated with autism spectrum disorder such as impairment in verbal and nonverbal communication, social interactions, and/or imaginative play." [] is_a: HP:0000708 ! Atypical behavior relationship: IAO:0000136 EFO:0003756 ! is_about autism spectrum disorder property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005427 name: social communication impairment def: "Significant problems using verbal and nonverbal communication for social purposes, leading to impairments in their ability to effectively communicate, participate socially, maintain social relationships, or otherwise perform academically or occupationally." [] is_a: EFO:0005426 ! autism spectrum disorder symptom property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005429 name: borderline personality disorder symptom def: "Symptom associated with borderline personality disorder such as unstable self-image and mood together with volatile interpersonal relationships, self-damaging impulsivity, recurrent suicidal threats or gestures and/or self-mutilating behavior" [] is_a: EFO:0003765 ! sign or symptom property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005430 name: nicotine use is_a: GO:0007610 ! behavior property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0005431 name: illegal drug consumption def: "The consumption of illegal drug such as heroine. Note that some drug like cannabis are illegal in some countries but legal in others." [] is_a: GO:0007610 ! behavior property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005432 name: non-substance related disinhibited behaviour def: "A disinhibited behaviour non-substance related as opposed to disinhibited behaviour due to alcohol consumption for example." [] is_a: GO:0007610 ! behavior property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0005433 name: array control biosequence def: "An array design in which a reporter on an array associated with a BioSequence that has a context dependent predicted signal. e.g. a yeast reporter on a human array, is a control biosequence expected to be of low signal if no spikes are used. If spikes are used, the signal is expected to be high." [] xref: MO:940 is_a: EFO:0005440 ! array control design [Term] id: EFO:0005434 name: array control buffer def: "An array design in which an array contains a reporter where only buffer was deposited on the array, acting as a control." [] xref: MO:505 is_a: EFO:0005440 ! array control design [Term] id: EFO:0005435 name: array control empty def: "An array design in which a reporter on an array has no material or buffer was deposited on the array." [] is_a: EFO:0005440 ! array control design property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0005436 name: array control genomic DNA def: "An array design in which a reporter has genomic DNA deposited on it; the genomic DNA may be fragmented, e.g. salmon sperm DNA, Cot1DNA." [] xref: MO:449 is_a: EFO:0005440 ! array control design [Term] id: EFO:0005437 name: array control hybridization quality def: "An array design in which a reporter is included that could be used to determine the quality and general performance of the labeled extract. An example is a pool of BioSequences representing widely-expressed genes (i.e., housekeeping genes)." [] xref: MO:385 is_a: EFO:0005440 ! array control design [Term] id: EFO:0005438 name: array control label def: "An array design in which a reporter is used as a control where some label has been deposited. This includes fluor and radioactively labeled oligos and fluors alone." [] xref: MO:708 is_a: EFO:0005440 ! array control design [Term] id: EFO:0005439 name: array control reporter size def: "An array design in which a Reporter is included on an array of whose BioSequence is of known length used as a methodological control for hybridization efficiency.\n" [] xref: MO:431 is_a: EFO:0005440 ! array control design [Term] id: EFO:0005440 name: array control design def: "An array design in which a reporter is used a control for reasons such as quality or result verifcation. " [] is_a: EFO:0000269 ! array design [Term] id: EFO:0005441 name: DU 145 def: "A cell line derived from human prostate carcinoma. The patient was a 69-year-old male, and the sample was derived from brain metastasis." [] synonym: "DU-145" EXACT [] synonym: "DU145" EXACT [] synonym: "Duke University 145" EXACT [] xref: BTO:0001332 xref: CLO:0002840 xref: https://www.atcc.org/products/all/HTB-81.aspx xref: NCIt:C93036 xref: RRID:CVCL_0105 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000313 ! carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male relationship: RO:0001000 UBERON:0002367 ! derives_from prostate gland [Term] id: EFO:0005442 name: OVCAR4 synonym: "OVCAR-4" EXACT [] synonym: "OVCAR.4" EXACT [] xref: NCIt:C117206 is_a: EFO:0002394 ! ovarian cancer cell lines is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0001075 ! ovarian carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0005443 name: OVCAR5 synonym: "OVCAR-5" EXACT [] synonym: "OVCAR.5" EXACT [] xref: NCIt:C117207 is_a: EFO:0002394 ! ovarian cancer cell lines is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0001075 ! ovarian carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0005444 name: OVCAR8 synonym: "OVCAR-8" EXACT [] synonym: "OVCAR.8" EXACT [] xref: BTO:0003054 xref: NCIt:C117208 xref: RRID:CVCL_1629 is_a: EFO:0002394 ! ovarian cancer cell lines is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0001075 ! ovarian carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0005445 name: PEO1 def: "PEO1 is an adherent cell line derived from a malignant effusion from the peritoneal ascites of a patient with a poorly differentiated serous adenocarcinoma. The patient previously received cisplatin, 5-fluorouracil and chlorambucil treatment. PEO1 is tumourigenic in immunologically-deprived CBA mice. PEO1 exhibits good growth in semi-solid medium (agar). PEO1 is from the same patient as the PEO4 and PEO6 cell lines (Sigma Catalogue numbers 10032309 & 10032310).This cell line is one of nine from the PE ovarian adenocarcinoma panel (derived from 4 patients at varying stages of ovarian cancer, isolated from various malignant sites, and at various treatment stages) available at ECACC which provides a model system for research into the mechanism of oestrogen action on ovarian adenocarcinoma tumour cells, and for the study of efficacy and toxicity of oestrogen protagonists. (Sigma-Aldrich catalog number 10032308)" [] synonym: "PE01" EXACT [] is_a: EFO:0002394 ! ovarian cancer cell lines is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0001075 ! ovarian carcinoma relationship: has_characteristic EFO:0002917 ! ovarian serous adenocarcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/10032308 xsd:string [Term] id: EFO:0005446 name: PEO14 is_a: EFO:0002394 ! ovarian cancer cell lines is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0001075 ! ovarian carcinoma [Term] id: EFO:0005447 name: PEO23 is_a: EFO:0002394 ! ovarian cancer cell lines is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0001075 ! ovarian carcinoma [Term] id: EFO:0005448 name: PEO4 is_a: EFO:0002394 ! ovarian cancer cell lines is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0001075 ! ovarian carcinoma [Term] id: EFO:0005449 name: PEO6 is_a: EFO:0002394 ! ovarian cancer cell lines is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0001075 ! ovarian carcinoma [Term] id: EFO:0005450 name: SF126 synonym: "SF-126" EXACT [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000519 ! glioblastoma multiforme relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0005451 name: SF268 synonym: "SF-268" EXACT [] xref: NCIt:C117169 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002499 ! anaplastic astrocytoma relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0005452 name: SF295 synonym: "SF-295" EXACT [] xref: NCIt:C117170 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000519 ! glioblastoma multiforme relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0005453 name: SF539 synonym: "SF-539" EXACT [] xref: NCIt:C117174 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000326 ! central nervous system cancer relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0005454 name: SHEF-1 synonym: "Shef-1" EXACT [] synonym: "SHEF1" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0003040 ! embryonic cell line [Term] id: EFO:0005455 name: SHEF-3 synonym: "Shef-3" EXACT [] synonym: "SHEF3" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0003040 ! embryonic cell line [Term] id: EFO:0005456 name: SHEP-2 is_a: EFO:0002888 ! Homo sapiens cell line [Term] id: EFO:0005457 name: SK-MM-1 synonym: "SKMM1" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line [Term] id: EFO:0005458 name: SK-MM-2 synonym: "SKMM2" EXACT [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line [Term] id: EFO:0005459 name: obsolete_SK-N-F1 synonym: "SKNF1" EXACT [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.56" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate with EFO_0002338" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0002338 [Term] id: EFO:0005460 name: SKI-DCLC is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000403 ! diffuse large B-cell lymphoma [Term] id: EFO:0005461 name: SUDHL1 synonym: "SU-DHL-1" EXACT [] synonym: "SUDHL-1" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0003032 ! anaplastic large cell lymphoma relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0005462 name: SW527 synonym: "SW 527" EXACT [] synonym: "SW-527" EXACT [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0005475 name: BL-2 is_a: BTO:0000164 ! Burkitt lymphoma cell is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000309 ! Burkitts lymphoma relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0005476 name: JVM-2 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line is_a: EFO:0005292 ! lymphoblastoid cell line relationship: has_characteristic EFO:0000574 ! lymphoma relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0005477 name: obsolete_KARPAS 422 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.55" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate with: http://www.ebi.ac.uk/efo/EFO_0005719" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0005719 [Term] id: EFO:0005478 name: obsolete_U-266 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.65" xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "use EFO_0001254 label : U266" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:0005479 name: Z-138 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line is_a: EFO:0005292 ! lymphoblastoid cell line relationship: has_characteristic EFO:0000574 ! lymphoma relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0005480 name: MEL-GATA-1-ER def: "This is a mouse suspension cell line derived from MEL cells by stable transfection with a GATA-1-ER fusion protein construct as described by Choe et al., 2003 (Cancer Res 63, 6363–6369, 2003). These cells can be terminally differentiated into mature erythroid cells with β-estradiol treatment, while GATA-1 alone can induce MEL cells to differentiate and to lose their tumorigenic properties. [PMID: 14559825]" [] xref: PMID:14559825 is_a: EFO:0003971 ! MEL cell line [Term] id: EFO:0005481 name: Patski def: "Mouse Embryonic Kidney Fibroblast. As described in Lingenfelter et al., 1998 (Nat Genet. 1998 18:212-3) and Yang et al., 2010 (Genome Res. 2010 20:614-22), PATSKI is a female interspecific mouse fibroblast that was derived from the embryonic kidney of an M.spretus x C57BL/6J hybrid mouse such that the C57Bl/6J X chromosome (maternal) is always the inactive X. This is an adherent cell line." [] is_a: EFO:0001643 ! kidney derived cell line is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002887 ! mouse cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0005482 name: 416B def: "Mouse hematopoietic suspension cell line positive for CD34. The cells have a diploid complement of chromosomes, are non-tumorigenic and bipotential (can be induced to differentiate in vivo into two distinct haematopoietic lineages), and which in appropriate circumstances protect mice from potentially lethal radiation. [PMID: 763330]" [] xref: PMID:763330 is_a: EFO:0002887 ! mouse cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0005483 name: ES-Bruce4 def: "An embryonic cell line isolated from C57BL/6 mouse strain. Injection of Bruce4 cells into C57BL/6 blastocysts will produce agouti chimeras." [] is_a: EFO:0002887 ! mouse cell line is_a: EFO:0003040 ! embryonic cell line is_a: EFO:0005738 ! ESC derived cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0005484 name: 46C def: "46C is an embryonic stem cell line, constructed in the laboratory of Austin Smith, in which a drug resistance gene is placed under the control of a Sox1 promoter. Cells were isolated from the 129a mouse strain. [PMID: 12524553]" [] xref: PMID:12524553 is_a: EFO:0002887 ! mouse cell line is_a: EFO:0003040 ! embryonic cell line is_a: EFO:0005738 ! ESC derived cell line relationship: RO:0000086 PATO:0000384 ! has_quality male relationship: RO:0001000 CL:0002322 ! derives_from embryonic stem cell [Term] id: EFO:0005485 name: TT2 def: "ES-cells isolated from C57BL/6xCBA" [] is_a: EFO:0002887 ! mouse cell line is_a: EFO:0003040 ! embryonic cell line is_a: EFO:0005738 ! ESC derived cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0005486 name: J185a def: "Fetal myoblast Desmin+" [] is_a: BTO:0000256 ! myoblast cell line is_a: EFO:0002887 ! mouse cell line is_a: EFO:0003040 ! embryonic cell line [Term] id: EFO:0005487 name: DZ685 is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/species/c_elegans/strain/DZ685#02--10 xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005488 name: NW1229 is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/species/c_elegans/strain/NW1229#02--10 xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005489 name: LX837 is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/species/c_elegans/strain/LX837#02--10 xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005490 name: BA671 is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/species/c_elegans/strain/BA671#02--10 xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005491 name: CB1489 is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/species/c_elegans/strain/CB1489#02--10 xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005492 name: JK1107 is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/species/c_elegans/strain/JK1107#02--10 xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005493 name: MT10430 is_a: NCBITaxon:6239 ! Caenorhabditis elegans property_value: definition:citation http://www.wormbase.org/species/c_elegans/strain/MT10430#02--10 xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005494 name: obsolete_gonad def: "organ producing either sperm or ova" [] xref: NCIt:C12725 xref: WBbt:0005175 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with UBERON_0000991" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0000991 [Term] id: EFO:0005495 name: NSM def: "Neuron class of two pharyngeal neurosecretory-motor neurons." [] synonym: "neurosecretory-motor neuron" EXACT [] xref: WBbt:0003666 is_a: CL:0000165 ! neuroendocrine cell property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005496 name: Caenorhabditis component is_a: UBERON:0000061 ! anatomical structure property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005497 name: pharyngeal muscle cell def: "type of cells that make up muscle layers in the pharynx in worms such as C. elegans" [] xref: WBbt:0005451 is_a: CL:0000187 ! muscle cell property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005498 name: newly molted young adult hermaphrodite def: "C. elegans at 20 Centigrade: 0-24 hours after L4-adult molt" [] xref: WBls:0000063 is_a: EFO:0001272 ! adult property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005499 name: 3-fold embryo Ce def: "C. elegans 520-620min after first cleavage at 20 Centigrade. Cell number remains at ~560 cells, with some new cells generated and some cells go through programmed cell death. The shape of embryo is elongated and tripple fold. A stage between 2-fold embryo and fully-elongated embryo. Also called pretzel embryo or pretzel stage. " [] synonym: "3-fold embryo" EXACT [] xref: WBls:0000020 is_a: EFO:0005858 ! C. elegans embryo stage relationship: part_of WBls:0000003 ! embryo Ce property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005500 name: 4-cell embryo Ce def: "C. elegans 20-40min after first cleavage at 20 Centigrade. Contains 4 cells." [] synonym: "4-cell embryo" EXACT [] xref: WBls:0000008 is_a: EFO:0005858 ! C. elegans embryo stage relationship: part_of WBls:0000003 ! embryo Ce property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005501 name: proliferating embryo Ce def: "C. elegans 0-350min after first cleavage at 20 Centigrade. Proliferate from 1 cell to 560 cells. From start of first cleavage till cleavage is over." [] synonym: "proliferating embryo" EXACT [] xref: WBls:0000004 is_a: EFO:0005858 ! C. elegans embryo stage relationship: part_of WBls:0000003 ! embryo Ce property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005502 name: late cleavage stage embryo Ce def: "C. elegans 210-350min after first cleavage at 20 Centigrade. Proliferate from 421 cells to 560 cells. The stage before the fast cleavage of cells finishes." [] synonym: "late cleavage stage embryo" EXACT [] xref: WBls:0000014 is_a: EFO:0005501 ! proliferating embryo Ce property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005503 name: gastrulating embryo Ce def: "C. elegans 100-290min after first cleavage at 20 Centigrade. Proliferate from 28 cells to 421 cells. Referring to the whole period of gastrulation." [] synonym: "gastrulating embryo" EXACT [] xref: WBls:0000010 is_a: EFO:0005501 ! proliferating embryo Ce property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005504 name: fully-elongated embryo Ce def: "C. elegans 620-800min(hatch) after first cleavage at 20 Centigrade. Cell number remains at ~560 cells, with some new cells generated and some cells go through programmed cell death. A stage after elongation is over. The last stage of embryogenesis. Also called pre-hatched embryo, late embryo or morphogenetic embryo." [] synonym: "fully-elongated embryo" EXACT [] xref: WBls:0000021 is_a: EFO:0005858 ! C. elegans embryo stage relationship: part_of WBls:0000003 ! embryo Ce property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005505 name: enclosing embryo Ce def: "C. elegans 290-350min after first cleavage at 20 Centigrade. Proliferate from 421 cells to 560 cells. The stage when embryo just finished gastulation and is enclosing." [] synonym: "enclosing embryo" EXACT [] xref: WBls:0000013 is_a: EFO:0005502 ! late cleavage stage embryo Ce property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005506 name: elongating embryo Ce def: "C. elegans 350-620min after first cleavage at 20 Centigrade. Cell number remains at ~560 cells, with some new cells generated and some cells go through programmed cell death. The stage that embryo starts elongation till elongation is over." [] synonym: "elongating embryo" EXACT [] xref: WBls:0000015 is_a: EFO:0005858 ! C. elegans embryo stage relationship: part_of WBls:0000003 ! embryo Ce property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005507 name: dauer larva def: "C. elegans third stage larva specialized for dispersal and long term survival." [] xref: WBls:0000032 is_a: EFO:0007694 ! Caenorhabditis elegans larval stage property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005508 name: L1 larva def: "C. elegans first stage larva. At 25 Centigrade, it ranges 14-25.5 hours after fertilization, 0-11.5 hours after hatch." [] xref: WBls:0000024 is_a: EFO:0007694 ! Caenorhabditis elegans larval stage property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005509 name: L4 larva def: "C. elegans fourth stage larva. At 25 Centigrade, it ranges 40-49.5 hours after fertilization, 26-35.5 hours after hatch." [] xref: WBls:0000038 is_a: EFO:0007694 ! Caenorhabditis elegans larval stage property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005510 name: L2d-dauer molt def: "C. elegans stage when the larval shifts from L2d larva to dauer larva. It includes the synthesis of new cuticle, cease of phrayngeal pumping during a lethargus stage, and the shed off of old cuticle. " [] xref: WBls:0000031 is_a: EFO:0007694 ! Caenorhabditis elegans larval stage property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005511 name: post dauer stage def: "C. elegans stage right after a larva recovered from dauer but has not started transformation to L4 larva yet." [] xref: WBls:0000052 is_a: EFO:0007694 ! Caenorhabditis elegans larval stage property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005512 name: estrogen receptor status def: "quantification of the level of estrogen receptors in a tumor" [] xref: ICD9:V86 xref: ICD9:V86-V86.99 xref: NCIt:C16150 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:0000305 ! is_about breast carcinoma property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005513 name: progesterone receptor status def: "quantification of progesterone receptors in breast cancer. PR status is used in the classification of breast cancers." [] xref: NCIt:C16149 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:0000305 ! is_about breast carcinoma property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005514 name: HER2 status def: "quantification of the level of human epidermal growth factor receptor 2 (HER2) in a tumor. Amplification or overexpression of the HER2 oncogene plays a role in the development and progression of some breast cancers. " [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:0000305 ! is_about breast carcinoma property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005517 name: RIP-Chip by array def: "RIP-Chip refers to the immunoprecipitation of RNPs from cell extracts and the subsequent microarray analysis of associated RNA molecules." [] is_a: EFO:0001457 ! RNA assay is_a: EFO:0002696 ! assay by array is_a: OBI:0001700 ! immunoprecipitation assay property_value: IAO:0000117 "Drashtti Vasant" xsd:string [Term] id: EFO:0005518 name: sample collection protocol def: "Describes the procedure whereby biological samples for an experiment are sourced." [] is_a: OBI:0000272 ! protocol property_value: IAO:0000112 "collection of clinical samples from patients, collection of plant materials in a forest, collection of larvae from lab-grown Drosophila flies." xsd:string property_value: IAO:0000117 "Drashtti Vasant" xsd:string [Term] id: EFO:0005519 name: dissection protocol def: "describes the procedure for dissection." [] def: "Describes the procedure which dissects biological materials into anatomical sub-components, e.g. specific organs or tissues." [] is_a: OBI:0000272 ! protocol relationship: http://www.ebi.ac.uk/efo/is_executed_in EFO:0003856 ! dissection property_value: IAO:0000117 "Drashtti Vasant" xsd:string [Term] id: EFO:0005520 name: conversion protocol def: "Describes the conversion of samples (e.g. RNA samples) to another form (e.g. complementary DNA) with no prior dedicated extraction step of the former form, and no labeling of the converted product with chemical tags or dyes during the process. Other examples of such conversions are bisulphite conversion for DNA methylation analysis, various RNA modifications prior to immunoprecipitation." [] is_a: OBI:0000272 ! protocol [Term] id: EFO:0005521 name: technology type def: "The technology type or platform of the reporters on the array." [] is_a: IAO:0000030 ! information entity property_value: definition:citation "MGED ontology" xsd:string [Term] id: EFO:0005522 name: substrate type def: "Controlled terms for descriptors of types of array substrates." [] is_a: IAO:0000030 ! information entity property_value: definition:citation "MGED ontology" xsd:string [Term] id: EFO:0005523 name: surface type def: "Controlled terms for descriptors for coating of the substrate." [] is_a: IAO:0000030 ! information entity property_value: definition:citation "MGED ontology" xsd:string [Term] id: EFO:0005524 name: large artery stroke def: "stroke caused by the blockage of blood flow in one of the large arteries feeding the brain" [] def: "Stroke caused by the blockage of blood flow in one of the large arteries feeding the brain." [EFO:0005524] comment: Editor note: check this synonym: "atherosclerotic stroke" EXACT [] synonym: "large artery stroke" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0005490 xref: PMID:7678184 is_a: EFO:0000712 {source="EFO:0005524"} ! stroke is_a: MONDO:0000473 ! arterial disorder property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0005526 name: response to alcohol def: "physiological response of an organism, eg in terms of flushing, to consuming alcohol" [] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005527 name: ejection fraction measurement def: "quantification of the volumetric fraction of blood pumped out of the left and right ventricle with each heartbeat or cardiac cycle" [] is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease relationship: IAO:0000136 UBERON:0004535 ! is_about cardiovascular system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005528 name: parasitemia measurement def: "quantification of the content of parasites in the blood, used as a measurement of parasite load in the organism and an indication of the degree of an active parasitic infection" [] is_a: EFO:0006843 ! infectious disease biomarker relationship: IAO:0000136 EFO:0005741 ! is_about infectious disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005529 name: Chagas cardiomyopathy def: "A disease of the cardiac muscle developed subsequent to the initial protozoan infection by trypanosoma cruzi. After infection, less than 10% develop acute illness such as myocarditis (mostly in children). The disease then enters a latent phase without clinical symptoms until about 20 years later. Myocardial symptoms of advanced chagas disease include conduction defects (heart block) and cardiomegaly." [MESH:D002598] def: "a form of cardiomyopathy that develops as a result of Chagas disease, an infection with the protozoan parasite Trypanosoma Cruzi" [] synonym: "Chagas cardiomyopathy" EXACT [] {comment="preferred label from MONDO"} synonym: "Trypanosoma cruzi cardiomyopathy" EXACT [] synonym: "Trypanosoma cruzi caused cardiomyopathy" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] xref: ICD9:086.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D002598 {source="MONDO:equivalentTo", source="EFO:0005529"} xref: MeSH:D002598 xref: MONDO:0005491 xref: SCTID:998008 {source="MONDO:equivalentTo"} is_a: EFO:0000318 {source="EFO:0005529", source="MESH:D002598", source="MONDO:Entailed", source="MONDO:Redundant"} ! cardiomyopathy is_a: EFO:0008559 ! American trypanosomiasis is_a: MONDO:0021669 ! post-infectious disorder intersection_of: EFO:0000318 ! cardiomyopathy intersection_of: disease_arises_from_feature MONDO:0001444 ! Chagas disease relationship: disease_arises_from_feature MONDO:0001444 ! Chagas disease property_value: exactMatch http://identifiers.org/mesh/D002598 property_value: exactMatch http://identifiers.org/snomedct/998008 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005530 name: Trypanosoma cruzi seropositivity def: "Trypanosoma cruzi seropositivity is the result of a measurement of circulating T. cruzi specific antibodies " [] is_a: EFO:0006843 ! infectious disease biomarker is_a: EFO:0007034 ! seropositivity measurement relationship: IAO:0000136 DOID:10113 ! is_about trypanosomiasis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005531 name: urticaria def: "A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress." [MESH:D014581] def: "Urticaria is a kind of skin rash notable for pale red, raised, itchy bumps that might also cause a burning or stinging sensation. It is often but not necessarily caused by an allergic reaction." [] synonym: "hives" EXACT [MESH:D014581, NCIT:C3432] synonym: "urticaria" EXACT [] {comment="preferred label from MONDO"} synonym: "urticaria" EXACT [NCIT:C3432] synonym: "urticaria (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Urticarias" RELATED [MESH:D014581] xref: DOID:1555 {source="EFO:0005531", source="MONDO:equivalentTo"} xref: HP:0001025 {source="MONDO:otherHierarchy"} xref: ICD10:L50 xref: ICD10CM:L50 {source="MONDO:equivalentTo"} xref: ICD9:708 {source="EFO:0005531"} xref: ICD9:708.8 {source="MONDO:relatedTo", source="DOID:1555", source="MONDO:i2s"} xref: ICD9:708.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10046735 xref: MedDRA:10046756 xref: MESH:D014581 {source="EFO:0005531", source="MONDO:equivalentTo"} xref: MeSH:D014581 xref: MONDO:0005492 xref: NCIT:C3432 {source="EFO:0005531", source="MONDO:equivalentTo"} xref: NCIt:C3432 xref: SCTID:126485001 {source="EFO:0005531", source="MONDO:equivalentTo"} xref: SNOMEDCT:126485001 xref: SNOMEDCT:64305001 xref: UMLS:C0042109 {source="MONDO:equivalentTo", source="NCIT:C3432"} is_a: MONDO:0002406 {source="NCIT:C3432"} ! dermatitis relationship: EFO:0000784 UBERON:0000014 ! has_disease_location zone of skin property_value: exactMatch DOID:1555 property_value: exactMatch http://identifiers.org/mesh/D014581 property_value: exactMatch http://identifiers.org/snomedct/126485001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042109 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L50 property_value: exactMatch NCIT:C3432 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000589 "urticaria (disease)" xsd:string [Term] id: EFO:0005532 name: angioedema def: "Condition similar to urticaria but with swelling occuring in a lower layer of the dermis as well as in the subcutis." [] def: "Swelling involving the deep dermis, subcutaneous, or submucosal tissues, representing localized edema. Angioedema often occurs in the face, lips, tongue, and larynx." [MESH:D000799] synonym: "angioedema" EXACT [] {comment="preferred label from MONDO"} synonym: "angioedemas" EXACT [MESH:D000799] synonym: "angioneurotic edema" NARROW [DOID:1558, MESH:D000799] synonym: "angioneurotic Edemas" EXACT [MESH:D000799] synonym: "angioneurotic oedema" NARROW OMO:0003005 [] synonym: "edema, angioneurotic" EXACT [MESH:D000799] synonym: "edema, Quincke's" EXACT [MESH:D000799] synonym: "Edemas, angioneurotic" EXACT [MESH:D000799] synonym: "giant urticaria" EXACT [DOID:1558, MESH:D000799] synonym: "giant Urticarias" EXACT [MESH:D000799] synonym: "Quincke edema" EXACT [MESH:D000799] synonym: "Quincke oedema" EXACT OMO:0003005 [] synonym: "Quincke's edema" EXACT [DOID:1558, MESH:D000799] synonym: "Quincke's oedema" EXACT OMO:0003005 [] synonym: "Quinckes edema" EXACT [MESH:D000799] synonym: "Quinckes oedema" EXACT OMO:0003005 [] synonym: "urticaria, giant" EXACT [MESH:D000799] synonym: "Urticarias, giant" EXACT [MESH:D000799] xref: CSP:2716-7007 {source="DOID:1558"} xref: DOID:1558 {source="EFO:0005532", source="MONDO:equivalentTo"} xref: HP:0100665 {source="MONDO:otherHierarchy"} xref: ICD9:995.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10002424 xref: MedDRA:10002471 xref: MedDRA:10002472 xref: MedDRA:10014212 xref: MESH:D000799 {source="EFO:0005532", source="MONDO:equivalentTo", source="DOID:1558"} xref: MeSH:D000799 xref: MONDO:0010481 xref: NCIt:C112175 xref: OMIM:300909 xref: SCTID:400075008 {source="MONDO:equivalentTo", source="DOID:1558"} xref: SNOMEDCT:41291007 is_a: EFO:0005531 {source="MESH:D000799", source="MONDO:Redundant"} ! urticaria is_a: MONDO:0019293 {source="MESH:D000799/inferred"} ! skin vascular disease relationship: EFO:0000784 UBERON:0000014 ! has_disease_location zone of skin property_value: exactMatch DOID:1558 property_value: exactMatch http://identifiers.org/mesh/D000799 property_value: exactMatch http://identifiers.org/snomedct/400075008 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005533 name: response to non-steroidal anti-inflammatory def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a non-steroidal anti-inflammatory." [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005534 name: delayed encephalopathy after acute carbon monoxide poisoning def: "Anoxic encephalopathy resulting from acute CO intoxication, developing within 2-6 weeks of the poisoning event" [EFO:0005534] def: "anoxic encephalopathy resulting from acute CO intoxication, developing within 2-6 weeks of the poisoning event" [] synonym: "carbon monoxide-induced delayed encephalopathy" EXACT [] {comment="preferred label from MONDO"} synonym: "delayed encephalopathy after acute carbon monoxide poisoning" EXACT [EFO:0005534] xref: MONDO:0005493 is_a: EFO:0005774 ! brain disease is_a: MONDO:0800373 {source="https://orcid.org/0000-0001-5208-3432"} ! carbon monoxide poisoning relationship: EFO:0000784 UBERON:0000955 ! has_disease_location brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4632 xsd:anyURI [Term] id: EFO:0005535 name: specimen vial def: "A vial is a unique aliquot of biological material e.g. iPSC." [] xref: SNOMEDCT:434746001 is_a: OBI:0100051 ! specimen property_value: createdBy "Drashtti Vasant" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0005536 name: nitric oxide exhalation measurement def: "Quantification of the fraction of nitric oxide in the total exhalation volume, used as a non-invasive biomarker of eosinophilic airway inflammation. Higher Feno values are associated with childhood asthma symptoms, exacerbations, physician-diagnosed asthma and atopy." [] synonym: "FENO" EXACT [] synonym: "fraction of exhaled nitric oxide" EXACT [] is_a: EFO:0001444 ! measurement property_value: definition:citation https://en.wikipedia.org/wiki/Nitric_oxide xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005537 name: triple-negative breast cancer def: "An invasive breast carcinoma which is negative for expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2)." [NCIT:P378] synonym: "TNBC" EXACT [] synonym: "triple-negative breast cancer" EXACT [NCIT:C71732] synonym: "triple-negative breast carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "triple-negative breast carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "triple-negative breast carcinoma" EXACT [NCIT:C71732] synonym: "triple-receptor negative breast cancer" EXACT [MONDO:0000619] xref: DOID:0060081 {source="MONDO:equivalentTo"} xref: EFO:0005537 {source="MONDO:equivalentTo"} xref: MESH:D064726 {source="MONDO:equivalentTo"} xref: MONDO:0005494 xref: NCIT:C71732 {source="MONDO:equivalentTo"} xref: SCTID:706970001 {source="EFO:0005537", source="MONDO:equivalentTo"} xref: UMLS:C3539878 {source="NCIT:C71732", source="MONDO:equivalentTo"} is_a: EFO:0009780 ! HER2 negative breast carcinoma is_a: EFO:0009781 ! progesterone-receptor negative breast cancer is_a: EFO:1000650 ! estrogen-receptor negative breast cancer property_value: exactMatch DOID:0060081 property_value: exactMatch DOID:0060081 property_value: exactMatch http://identifiers.org/mesh/D064726 property_value: exactMatch http://identifiers.org/mesh/D064726 property_value: exactMatch http://identifiers.org/snomedct/706970001 property_value: exactMatch http://identifiers.org/snomedct/706970001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3539878 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3539878 property_value: exactMatch NCIT:C71732 property_value: exactMatch NCIT:C71732 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0005538 name: thrombin generation potential measurement def: "quantification of the capacity of a given individual to generate thrombin, measured in plasma and shown to associate with thrombotic disorders" [] synonym: "TGP measurement" EXACT [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 HP:0001871 ! is_about Abnormality of blood and blood-forming tissues property_value: definition:citation http://europepmc.org/abstract/MED/24357727 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005539 name: adrenal gland disease def: "A disease involving the adrenal gland." [https://orcid.org/0000-0002-6601-2165] def: "An endocrine system disease that is located_in the adrenal gland." [] synonym: "adrenal gland disease" EXACT [MONDO:patterns/location, NCIT:C26690] synonym: "adrenal gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "adrenal gland diseases" EXACT [NCIT:C26690] synonym: "adrenal gland disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "adrenal gland disorder" EXACT [NCIT:C26690] synonym: "adrenal gland disorders" EXACT [NCIT:C26690] synonym: "disease of adrenal gland" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of adrenal gland" EXACT [] synonym: "disorder of adrenal gland" EXACT [MONDO:patterns/location_top] xref: DOID:9553 {source="MONDO:equivalentTo", source="EFO:0005539"} xref: ICD10:E27 xref: ICD9:255 {source="DOID:9553"} xref: ICD9:255.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:255.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9553"} xref: MESH:D000307 {source="MONDO:equivalentTo", source="DOID:9553"} xref: MONDO:0005495 xref: NCIT:C26690 {source="MONDO:equivalentTo", source="DOID:9553"} xref: SCTID:30171000 {source="MONDO:equivalentTo", source="DOID:9553"} is_a: EFO:0001379 {source="DOID:9553", source="EFO:0005539", source="MESH:D000307", source="MONDO:Redundant"} ! endocrine system disease property_value: exactMatch DOID:9553 property_value: exactMatch http://identifiers.org/mesh/D000307 property_value: exactMatch http://identifiers.org/snomedct/30171000 property_value: exactMatch NCIT:C26690 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0005540 name: bile duct carcinoma def: "A carcinoma that arises from epithelial cells of the bile duct" [MONDO:DesignPattern] def: "A carcinoma that arises from epithelial cells of the bile duct" [https://orcid.org/0000-0002-6601-2165] synonym: "bile duct cancer" BROAD [NCIT:C27814] synonym: "bile duct cancer (including cholangiocarcinoma)" EXACT [NCIT:C27814] synonym: "bile duct carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "bile duct carcinoma" EXACT [MONDO:patterns/location, NCIT:C27814] synonym: "bile duct carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "carcinoma of bile duct" EXACT [MONDO:patterns/carcinoma] xref: DOID:4897 {source="MONDO:equivalentTo", source="EFO:0005540"} xref: EFO:0005540 {source="MONDO:equivalentTo"} xref: MONDO:0005496 xref: NCIT:C27814 {source="DOID:4897", source="MONDO:equivalentTo", source="EFO:0005540"} xref: UMLS:C0740277 {source="DOID:4897", source="MONDO:equivalentTo", source="NCIT:C27814"} is_a: MONDO:0003059 {source="DOID:4897", source="MONDO:Redundant"} ! bile duct cancer is_a: MONDO:0018531 ! carcinoma of liver and intrahepatic biliary tract relationship: EFO:0000784 UBERON:0002394 ! has_disease_location bile duct property_value: closeMatch http://identifiers.org/snomedct/70179006 property_value: exactMatch DOID:4897 property_value: exactMatch DOID:4897 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0740277 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0740277 property_value: exactMatch NCIT:C27814 property_value: exactMatch NCIT:C27814 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:0005541 name: bone development disease def: "A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage." [] def: "A disease involving the bone development." [MONDO:patterns/location_top] synonym: "bone development disease" EXACT [MONDO:patterns/location] synonym: "bone development disease" EXACT [] {comment="preferred label from MONDO"} synonym: "bone development disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "disease of bone development" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of bone development" EXACT [] synonym: "disorder of bone development" EXACT [MONDO:patterns/location_top] xref: DOID:0080006 {source="EFO:0005541", source="MONDO:equivalentTo"} xref: ICD10:Q68 xref: MONDO:0005497 xref: SCTID:371521007 {source="MONDO:equivalentTo"} is_a: EFO:0004260 {source="DOID:0080006", source="EFO:0005541"} ! bone disease is_a: MONDO:0021147 ! disorder of development or morphogenesis property_value: exactMatch DOID:0080006 property_value: exactMatch http://identifiers.org/snomedct/371521007 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0005542 name: botulism def: "A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located_in neuromuscular junction, resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F." [] def: "A serious bacterial infection caused by botulinum toxin which is produced by Clostridium botulinum. Patients are infected usually by ingestion of contaminated food or wound contamination. It leads to muscle paralysis which may result in respiratory failure." [NCIT:C84599] subset: gard_rare {source="GARD:0000943"} subset: ordo_disease {source="Orphanet:1267"} synonym: "botulism" EXACT [NCIT:C84599] synonym: "botulism" EXACT [] {comment="preferred label from MONDO"} synonym: "botulism poisoning" EXACT [DOID:11976] synonym: "food poisoning due to Clostridium botulinum" NARROW [DOID:11976] synonym: "foodborne botulism" NARROW [DOID:11976] synonym: "foodborne botulism (subtype)" RELATED [GARD:0000943] synonym: "infant botulism (subtype)" RELATED [GARD:0000943] synonym: "infection due to Clostridium botulinum" EXACT [DOID:11976] synonym: "intoxication with Clostridium botulinum toxin" NARROW [DOID:11976] synonym: "wound botulism (subtype)" NARROW [GARD:0000943] xref: CSP:5000-0060 {source="DOID:11976"} xref: DOID:11976 {source="EFO:0005542", source="MONDO:equivalentTo"} xref: MedDRA:10006041 {source="Orphanet:1267", source="Orphanet:1267/e"} xref: MESH:D001906 {source="EFO:0005542", source="DOID:11976", source="Orphanet:1267", source="MONDO:equivalentTo", source="Orphanet:1267/e"} xref: MeSH:D001906 xref: MONDO:0005498 xref: NCIT:C84599 {source="EFO:0005542", source="DOID:11976", source="MONDO:equivalentTo"} xref: NCIt:C84599 xref: Orphanet:1267 {source="MONDO:equivalentTo"} xref: SCTID:398565003 {source="EFO:0005542", source="DOID:11976", source="MONDO:equivalentTo"} xref: SNOMEDCT:398565003 xref: SNOMEDCT:414531002 xref: UMLS:C0006057 {source="DOID:11976", source="Orphanet:1267", source="MONDO:equivalentTo", source="Orphanet:1267/e", source="NCIT:C84599"} is_a: EFO:1000874 ! commensal Clostridium infectious disease is_a: MONDO:0000314 {source="DOID:11976"} ! primary bacterial infectious disease is_a: MONDO:0020010 ! infectious disorder of the nervous system is_a: MONDO:0020125 {source="Orphanet:1267"} ! acquired neuromuscular junction disease property_value: closeMatch http://identifiers.org/meddra/10006041 property_value: exactMatch DOID:11976 property_value: exactMatch http://identifiers.org/mesh/D001906 property_value: exactMatch http://identifiers.org/snomedct/398565003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006057 property_value: exactMatch NCIT:C84599 property_value: exactMatch Orphanet:1267 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/943/botulism xsd:anyURI {source="GARD:0000943"} [Term] id: EFO:0005543 name: glioma def: "A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas." [NCIT:C3059] synonym: "glial neoplasm" EXACT [NCIT:C3059] synonym: "glial tumor" EXACT [NCIT:C3059] synonym: "glial tumour" EXACT OMO:0003005 [] synonym: "glioma" EXACT [NCIT:C3059] synonym: "glioma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "glioma" EXACT [] {comment="preferred label from MONDO"} synonym: "neoplasm of neuroglia" EXACT [NCIT:C3059] synonym: "neoplasm of the neuroglia" EXACT [NCIT:C3059] synonym: "neuroglial neoplasm" EXACT [NCIT:C3059] synonym: "neuroglial tumor" EXACT [NCIT:C3059] synonym: "neuroglial tumour" EXACT OMO:0003005 [] synonym: "tumor of neuroglia" EXACT [NCIT:C3059] synonym: "tumor of the neuroglia" EXACT [NCIT:C3059] synonym: "tumour of neuroglia" EXACT OMO:0003005 [] synonym: "tumour of the neuroglia" EXACT OMO:0003005 [] xref: GARD:0006513 {source="MONDO:equivalentTo"} xref: MESH:D005910 {source="MONDO:equivalentTo"} xref: MONDO:0021042 xref: NCIT:C3059 {source="MONDO:equivalentTo"} xref: OMIM:613028 xref: OMIM:613029 xref: Orphanet:182067 {source="https://github.com/monarch-initiative/mondo/issues/2932", source="MONDO:equivalentTo"} xref: SCTID:393564001 {source="MONDO:equivalentTo"} xref: UMLS:C0017638 {source="MONDO:equivalentTo", source="NCIT:C3059"} is_a: EFO:0009386 ! central nervous system disease is_a: MONDO:0021193 {source="MESH:D005910", source="NCIT:C3059"} ! neuroepithelial neoplasm property_value: exactMatch http://identifiers.org/mesh/D005910 property_value: exactMatch http://identifiers.org/mesh/D005910 property_value: exactMatch http://identifiers.org/snomedct/393564001 property_value: exactMatch http://identifiers.org/snomedct/393564001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017638 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017638 property_value: exactMatch NCIT:C3059 property_value: exactMatch NCIT:C3059 property_value: exactMatch Orphanet:182067 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0005545 name: congenital disorder of glycosylation type I def: "A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor." [DOID:0050570, http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification] synonym: "ALG1-CDG" RELATED [DOID:0050570] synonym: "ALG1-CDG (CDG-1k)" RELATED [DOID:0050570] synonym: "ALG11-CDG" RELATED [DOID:0050570] synonym: "ALG11-CDG (CDG-1p)" RELATED [DOID:0050570] synonym: "ALG12-CDG" RELATED [DOID:0050570] synonym: "ALG12-CDG (CDG-1g)" RELATED [DOID:0050570] synonym: "ALG2-CDG" RELATED [DOID:0050570] synonym: "ALG2-CDG (CDG-1i)" RELATED [DOID:0050570] synonym: "ALG3-CDG" RELATED [DOID:0050570] synonym: "ALG3-CDG (CDG-1d)" RELATED [DOID:0050570] synonym: "ALG6-CDG" RELATED [DOID:0050570] synonym: "ALG6-CDG (CDG-1c)" RELATED [DOID:0050570] synonym: "ALG8-CDG" RELATED [DOID:0050570] synonym: "ALG8-CDG (CDG-1h)" RELATED [DOID:0050570] synonym: "ALG9-CDG" RELATED [DOID:0050570] synonym: "ALG9-CDG (CDG-1l)" RELATED [DOID:0050570] synonym: "congenital disorder of glycosylation type I" EXACT [] {comment="preferred label from MONDO"} synonym: "congenital disorders of glycosylation, type I" EXACT [OMIMPS:212065] synonym: "DOLK-CDG" RELATED [DOID:0050570] synonym: "DOLK-CDG (CDG-1m)" RELATED [DOID:0050570] synonym: "DPAGT1-CDG" RELATED [DOID:0050570] synonym: "DPAGT1-CDG (CDG-1j)" RELATED [DOID:0050570] synonym: "DPM1-CDG" RELATED [DOID:0050570] synonym: "DPM1-CDG (CDG-1e)" RELATED [DOID:0050570] synonym: "DPM2-CDG" RELATED [DOID:0050570] synonym: "DPM2-CDG (CDG-1u)" RELATED [DOID:0050570] synonym: "DPM3-CDG" RELATED [DOID:0050570] synonym: "DPM3-CDG (CDG-1o)" RELATED [DOID:0050570] synonym: "MPDU1-CDG" RELATED [DOID:0050570] synonym: "MPDU1-CDG (CDG-1f)" RELATED [DOID:0050570] synonym: "MPI-CDG" RELATED [DOID:0050570] synonym: "MPI-CDG (CDG-1b)" RELATED [DOID:0050570] synonym: "PMM2-CDG" RELATED [DOID:0050570] synonym: "PMM2-CDG (CDG-1a)" RELATED [DOID:0050570] synonym: "RFT1-CDG" RELATED [DOID:0050570] synonym: "RFT1-CDG (CDG-1n)" RELATED [DOID:0050570] synonym: "SRD5A3-CDG" RELATED [DOID:0050570] synonym: "SRD5A3-CDG (CDG-1q)" RELATED [DOID:0050570] xref: DOID:0050570 {source="EFO:0005545", source="MONDO:equivalentTo"} xref: MONDO:0005500 xref: OMIM:301031 xref: OMIM:616457 xref: OMIM:617082 xref: OMIMPS:212065 {source="MONDO:equivalentTo"} is_a: MONDO:0015286 {source="DOID:0050570"} ! congenital disorder of glycosylation property_value: exactMatch DOID:0050570 property_value: exactMatch https://omim.org/phenotypicSeries/PS212065 [Term] id: EFO:0005546 name: congenital disorder of glycosylation type II def: "A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain." [DOID:0050571, http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification] synonym: "B4GALT1-CDG" RELATED [DOID:0050571] synonym: "B4GALT1-CDG (CDG-2d)" RELATED [DOID:0050571] synonym: "congenital disorder of glycosylation type II" EXACT [] {comment="preferred label from MONDO"} synonym: "congenital disorders of glycosylation, type II" EXACT [OMIMPS:212066] synonym: "MGAT2-CDG" RELATED [DOID:0050571] synonym: "MGAT2-CDG (CDG-2a)" RELATED [DOID:0050571] synonym: "MOGS-CDG" RELATED [DOID:0050571] synonym: "MOGS-CDG (CDG-2b)" RELATED [DOID:0050571] xref: DOID:0050571 {source="EFO:0005546", source="MONDO:equivalentTo"} xref: MESH:C535747 {source="EFO:0005546", source="MONDO:equivalentTo"} xref: MeSH:C535747 xref: MONDO:0005501 xref: OMIM:301045 xref: OMIM:616721 xref: OMIM:616828 xref: OMIM:616829 xref: OMIM:617395 xref: OMIMPS:212066 {source="MONDO:cjm", source="MONDO:equivalentTo"} is_a: MONDO:0015286 {source="DOID:0050571", source="MESH:C535747"} ! congenital disorder of glycosylation property_value: exactMatch DOID:0050571 property_value: exactMatch http://identifiers.org/mesh/C535747 property_value: exactMatch https://omim.org/phenotypicSeries/PS212066 [Term] id: EFO:0005547 name: dengue disease def: "A viral infectious disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom severe headache, has_symptom severe pain behind the eyes, has_symptom joint pain, has_symptom muscle and bone pain, has_symptom rash, and has_symptom mild bleeding." [] def: "Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS)." [Orphanet:99828] subset: ordo_disease {source="Orphanet:99828"} synonym: "break bone fever" EXACT [NCIT:C34528] synonym: "breakbone fever" EXACT [DOID:12205] synonym: "classic dengue" EXACT [DOID:12205] synonym: "classical dengue" RELATED [DOID:12205] synonym: "Dengue" EXACT [NCIT:C34528] synonym: "dengue disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Dengue Fever" EXACT [] synonym: "Dengue fever" EXACT [DOID:12205, NCIT:C34528] synonym: "Dengue virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Dengue virus disease or disorder" EXACT [] synonym: "Dengue virus infection" EXACT [Orphanet:99828] synonym: "Dengue virus infectious disease" EXACT [] synonym: "DENV infection" EXACT [] synonym: "DF" EXACT ABBREVIATION [Orphanet:99828] synonym: "hemorrhagic dengue" RELATED [GARD:0006254] synonym: "Philippine hemorrhagic fever" RELATED [GARD:0006254] synonym: "Singapore hemorrhagic fever" RELATED [GARD:0006254] synonym: "Thai hemorrhagic fever" RELATED [GARD:0006254] xref: DOID:12205 {source="MONDO:equivalentTo", source="EFO:0005547"} xref: ICD9:061 {source="DOID:12205", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10012310 {source="Orphanet:99828/e", source="Orphanet:99828"} xref: MESH:D003715 {source="DOID:12205", source="Orphanet:99828/e", source="MONDO:equivalentTo", source="Orphanet:99828"} xref: MONDO:0005502 xref: NCIT:C34528 {source="DOID:12205", source="MONDO:equivalentTo", source="EFO:0005547"} xref: NCIt:C34528 xref: Orphanet:99828 {source="MONDO:equivalentTo"} xref: SCTID:38362002 {source="DOID:12205", source="MONDO:equivalentTo"} xref: UMLS:C0011311 {source="DOID:12205", source="NCIT:C34528", source="Orphanet:99828/e", source="MONDO:equivalentTo", source="Orphanet:99828"} is_a: EFO:0007274 {source="MESH:D003715/inferred", source="MONDO:Redundant"} ! Flaviviridae infectious disease is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease property_value: closeMatch http://identifiers.org/meddra/10012310 property_value: exactMatch DOID:12205 property_value: exactMatch http://identifiers.org/mesh/D003715 property_value: exactMatch http://identifiers.org/snomedct/38362002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011311 property_value: exactMatch NCIT:C34528 property_value: exactMatch Orphanet:99828 property_value: excluded_subClassOf MONDO:0018093 {source="Orphanet:99828"} [Term] id: EFO:0005548 name: developmental disorder of mental health def: "A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development." [EFO:0005548] synonym: "developmental disorder of mental health" EXACT [] {comment="preferred label from MONDO"} synonym: "developmental mental disorder" RELATED [] xref: DOID:0060037 {source="EFO:0005548", source="MONDO:equivalentTo"} xref: ICD9:315.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MONDO:0005503 xref: SCTID:129104009 {source="MONDO:equivalentTo"} is_a: EFO:0000677 {source="EFO:0005548"} ! mental or behavioural disorder property_value: exactMatch DOID:0060037 property_value: exactMatch http://identifiers.org/snomedct/129104009 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3719 xsd:anyURI [Term] id: EFO:0005549 name: diphtheria def: "A Gram-positive bacterial infection caused by Corynebacterium diphtheriae. It usually involves the oral cavity, pharynx, and nasal cavity. Patients develop pseudomembranes in the affected areas and manifest signs and symptoms of an upper respiratory infection. The diphtheria toxin may cause myocarditis, polyneuritis, and other systemic effects." [NCIT:P378] def: "A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys." [] subset: gard_rare {source="GARD:0001875"} subset: ordo_disease {source="Orphanet:1679"} synonym: "Corynebacterium infection" EXACT [DOID:11405] synonym: "corynebacterium infection" EXACT [] synonym: "diphtheria" EXACT [] {comment="preferred label from MONDO"} xref: DOID:11405 {source="MONDO:equivalentTo", source="EFO:0005549"} xref: ICD10CM:A36 {source="MONDO:equivalentTo"} xref: ICD10CM:A36.3 {source="MONDO:relatedTo", source="Orphanet:1679", source="Orphanet:1679/btnt"} xref: ICD9:032 {source="EFO:0005549"} xref: ICD9:032.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10013023 {source="Orphanet:1679", source="Orphanet:1679/e"} xref: MedDRA:10013025 xref: MESH:D004165 {source="DOID:11405", source="MONDO:equivalentTo", source="Orphanet:1679", source="EFO:0005549", source="Orphanet:1679/e"} xref: MeSH:D004165 xref: MONDO:0005504 xref: NCIT:C34541 {source="MONDO:equivalentTo", source="EFO:0005549"} xref: NCIt:C34541 xref: Orphanet:1679 {source="MONDO:equivalentTo"} xref: SCTID:397428000 {source="MONDO:equivalentTo", source="EFO:0005549"} xref: SNOMEDCT:397428000 xref: UMLS:C0012546 {source="MONDO:equivalentTo", source="NCIT:C34541", source="Orphanet:1679", source="Orphanet:1679/e"} is_a: MONDO:0000314 {source="DOID:11405"} ! primary bacterial infectious disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare relationship: RO:0000057 NCBITaxon:1717 ! has_participant Corynebacterium diphtheriae property_value: closeMatch http://identifiers.org/meddra/10013023 property_value: exactMatch DOID:11405 property_value: exactMatch http://identifiers.org/mesh/D004165 property_value: exactMatch http://identifiers.org/snomedct/397428000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0012546 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A36 property_value: exactMatch NCIT:C34541 property_value: exactMatch Orphanet:1679 property_value: gwas:trait "true" xsd:boolean property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1875/diphtheria xsd:anyURI {source="GARD:0001875"} [Term] id: EFO:0005551 name: dysembryoplastic neuroepithelial tumor def: "A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface.B" [EFO:0005551] subset: gard_rare {source="GARD:0010640"} subset: ordo_disease {source="Orphanet:251946"} synonym: "DNET" EXACT ABBREVIATION [Orphanet:251946] synonym: "DNT" EXACT ABBREVIATION [NCIT:C9505, ONCOTREE:DNT] synonym: "dysembryoplastic neuroepithelial neoplasm" EXACT [DOID:2679, NCIT:C9505] synonym: "dysembryoplastic neuroepithelial tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "dysembryoplastic neuroepithelial tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "dysembryoplastic neuroepithelial tumor (morphologic abnormality)" EXACT [DOID:2679] synonym: "dysembryoplastic neuroepithelial tumour (morphologic abnormality)" EXACT OMO:0003005 [] xref: DOID:2679 {source="MONDO:equivalentTo", source="EFO:0005551"} xref: EFO:0005551 {source="MONDO:equivalentTo"} xref: GARD:0010640 {source="MONDO:equivalentTo"} xref: ICDO:9413/0 {source="NCIT:C9505"} xref: MONDO:0005505 xref: NCIT:C9505 {source="MONDO:equivalentTo", source="DOID:2679", source="exact-label-match", source="EFO:0005551"} xref: NCIT:C9505 {source="MONDO:equivalentTo", source="DOID:2679", source="MONDO:exact-label-match", source="EFO:0005551"} xref: ONCOTREE:DNT {source="MONDO:equivalentTo"} xref: Orphanet:251946 {source="MONDO:equivalentTo"} xref: SCTID:87211000119104 {source="MONDO:equivalentTo", source="DOID:2679"} xref: UMLS:C1266177 {source="MONDO:equivalentTo", source="DOID:2679", source="NCIT:C9505", source="Orphanet:251946", source="ORDO:251946/e"} xref: UMLS:C1266177 {source="Orphanet:251946/e", source="MONDO:equivalentTo", source="DOID:2679", source="NCIT:C9505", source="Orphanet:251946"} is_a: EFO:0003833 ! brain neoplasm is_a: MONDO:0016729 {source="NCIT:C9505", source="Orphanet:251946"} ! mixed neuronal-glial tumor relationship: disease_has_feature MONDO:0100035 {source="https://orcid.org/0000-0001-8486-0558"} ! structural epilepsy relationship: EFO:0000784 UBERON:0000955 ! has_disease_location brain property_value: closeMatch http://identifiers.org/snomedct/128788005 property_value: exactMatch DOID:2679 property_value: exactMatch DOID:2679 property_value: exactMatch http://identifiers.org/snomedct/87211000119104 property_value: exactMatch http://identifiers.org/snomedct/87211000119104 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266177 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266177 property_value: exactMatch NCIT:C9505 property_value: exactMatch NCIT:C9505 property_value: exactMatch Orphanet:251946 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10640/dysembryoplastic-neuroepithelial-tumor xsd:anyURI {source="GARD:0010640"} [Term] id: EFO:0005553 name: eccrine sweat gland cancer def: "An cancer with eccrine differentiation arising from the sweat glands.B" [EFO:0005553] synonym: "cancer of eccrine sweat gland" EXACT [MONDO:patterns/cancer] synonym: "eccrine sweat gland cancer" EXACT [] {comment="preferred label from MONDO"} synonym: "eccrine sweat gland cancer" EXACT [MONDO:patterns/location] synonym: "eccrine sweat gland cancer" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "malignant eccrine neoplasm" EXACT [NCIT:C5559] synonym: "malignant eccrine neoplasm of skin" EXACT [NCIT:C5559] synonym: "malignant eccrine neoplasm of the skin" EXACT [NCIT:C5559] synonym: "malignant eccrine skin neoplasm" EXACT [DOID:4921, NCIT:C5559] synonym: "malignant eccrine skin tumor" EXACT [NCIT:C5559] synonym: "malignant eccrine skin tumour" EXACT OMO:0003005 [] synonym: "malignant eccrine sweat gland neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant eccrine tumor" EXACT [DOID:4921, NCIT:C5559] synonym: "malignant eccrine tumor of skin" EXACT [NCIT:C5559] synonym: "malignant eccrine tumor of the skin" EXACT [NCIT:C5559] synonym: "malignant eccrine tumour" EXACT OMO:0003005 [] synonym: "malignant eccrine tumour of skin" EXACT OMO:0003005 [] synonym: "malignant eccrine tumour of the skin" EXACT OMO:0003005 [] synonym: "malignant neoplasm of eccrine sweat gland" EXACT [MONDO:patterns/cancer] xref: DOID:4921 {source="EFO:0005553", source="MONDO:equivalentTo"} xref: EFO:0005553 {source="MONDO:equivalentTo"} xref: MONDO:0005506 xref: NCIT:C5559 {source="DOID:4921", source="MONDO:equivalentTo"} xref: UMLS:C1334577 {source="DOID:4921", source="MONDO:equivalentTo", source="NCIT:C5559"} is_a: MONDO:0002090 {source="MONDO:Redundant", source="NCIT:C5559"} ! eccrine sweat gland neoplasm is_a: MONDO:0002206 {source="DOID:4921", source="MONDO:Redundant", source="NCIT:C5559"} ! sweat gland cancer relationship: EFO:0000784 UBERON:0000014 ! has_disease_location zone of skin relationship: EFO:0000784 UBERON:0002530 ! has_disease_location gland property_value: exactMatch DOID:4921 property_value: exactMatch DOID:4921 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334577 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334577 property_value: exactMatch NCIT:C5559 property_value: exactMatch NCIT:C5559 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/cancer.yaml [Term] id: EFO:0005555 name: gamma chain deficiency def: "A severe combined immunodeficiency that is a X-linked SCID caused by mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells." [] def: "Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." [Orphanet:276] subset: ordo_disease {source="Orphanet:276"} synonym: "immunodeficiency 4" RELATED [OMIM:300400] synonym: "SCID, X-linked" RELATED [OMIM:300400] synonym: "SCID-X1" EXACT [DOID:0060013] synonym: "SCIDX" RELATED ABBREVIATION [OMIM:300400] synonym: "SCIDX1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300400, Orphanet:276] synonym: "severe combined immunodeficiency T- B+ due to gamma chain deficiency" RELATED [GARD:0005618] synonym: "severe combined immunodeficiency T- B+, X-linked" RELATED [GARD:0005618] synonym: "severe combined immunodeficiency, X-linked" RELATED [MONDO:Lexical, OMIM:300400] synonym: "severe combined immunodeficiency, X-linked, T cell-negative, B cell-positive, NK cell-negative" RELATED [OMIM:300400] synonym: "severe combined immunodeficiency, X-linked, X-linked recessive" EXACT [OMIM:300400, OMIM:genemap2] synonym: "T-B+ SCID due to gamma chain deficiency" EXACT [Orphanet:276] synonym: "T-B+ severe combined immunodeficiency due to gamma chain deficiency" EXACT [] {comment="preferred label from MONDO"} synonym: "T-B+ severe combined immunodeficiency due to gamma chain deficiency" EXACT [Orphanet:276] synonym: "T-B+ severe combined immunodeficiency, X-linked" EXACT [Orphanet:276] synonym: "thymic epithelial hypoplasia" EXACT [DOID:0060013] synonym: "X-linked SCID" RELATED [GARD:0005618] synonym: "X-Linked Severe Combined Immunodeficiency" EXACT [] synonym: "X-linked severe combined immunodeficiency" EXACT [DOID:0060013, NCIT:C4682] synonym: "X-SCID" RELATED [GARD:0005618] synonym: "XSCID" EXACT ABBREVIATION [DOID:0060013] xref: DOID:0060013 {source="EFO:0005555", source="MONDO:equivalentTo"} xref: MONDO:0010315 xref: NCIT:C4682 {source="DOID:0060013", source="EFO:0005555", source="MONDO:equivalentTo"} xref: NCIt:C4682 xref: OMIM:300400 {source="DOID:0060013", source="Orphanet:276/e", source="MONDO:equivalentTo", source="Orphanet:276"} xref: Orphanet:276 {source="MONDO:equivalentTo", source="OMIM:300400"} xref: SCTID:203592006 {source="DOID:0060013", source="EFO:0005555", source="MONDO:equivalentTo"} xref: SNOMEDCT:203592006 is_a: MONDO:0031520 {source="DOID:0060013", source="MONDO:0010315/inferred", source="MONDO:Redundant", source="NCIT:C4682", source="OMIM:300400", source="Orphanet:276/inferred"} ! familial severe combined immunodeficiency is_a: MONDO:0044200 {source="Orphanet:276", source="PMID:31953710"} ! T-B+ severe combined immunodeficiency property_value: exactMatch DOID:0060013 property_value: exactMatch http://identifiers.org/snomedct/203592006 property_value: exactMatch https://omim.org/entry/300400 property_value: exactMatch NCIT:C4682 property_value: exactMatch Orphanet:276 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: EFO:0005556 name: Gilbert syndrome def: "A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity." [] def: "An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice." [NCIT:P378] synonym: "Constitutional hyperbilirubinemia" EXACT [] synonym: "constitutional hyperbilirubinemia" EXACT [DOID:2739] synonym: "familial cholemia" EXACT [Orphanet:357] synonym: "Gilbert Disease" EXACT [] synonym: "Gilbert disease" EXACT [NCIT:C84729] synonym: "Gilbert syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Gilbert syndrome" EXACT [OMIM:143500, OMIM:genemap2] synonym: "Gilbert's disease" EXACT [DOID:2739] synonym: "Gilbert's syndrome" EXACT [DOID:2739] synonym: "Gilbert-Meulengracht syndrome" EXACT [DOID:2739] synonym: "hereditary nonhemolytic jaundice" EXACT [DOID:2739] synonym: "hyperbilirubinemia 1" RELATED [OMIM:143500] synonym: "hyperbilirubinemia type 1" EXACT [Orphanet:357] synonym: "hyperbilirubinemia, Arias type" RELATED [OMIM:143500] synonym: "hyperbilirubinemia, Gilbert type" RELATED [OMIM:143500] xref: DOID:2739 {source="EFO:0005556", source="MONDO:equivalentTo"} xref: ICD10CM:E80.4 {source="MONDO:equivalentTo", source="DOID:2739"} xref: MESH:D005878 {source="EFO:0005556", source="MONDO:equivalentTo", source="DOID:2739"} xref: MeSH:D005878 xref: MONDO:0007745 xref: NCIT:C84729 {source="EFO:0005556", source="MONDO:equivalentTo", source="DOID:2739"} xref: NCIt:C84729 xref: OMIM:143500 {source="EFO:0005556", source="MONDO:equivalentTo", source="DOID:2739"} xref: Orphanet:357 {source="MONDO:equivalentObsolete", source="OMIM:143500"} xref: SCTID:27503000 {source="MONDO:equivalentTo", source="DOID:2739"} is_a: MONDO:0002254 {source="NCIT:C84729"} ! syndromic disease is_a: MONDO:0002408 {source="DC-OMIM:143500", source="DOID:2739", source="MESH:D005878", source="NCIT:C84729", source="OMIM:143500"} ! hereditary hyperbilirubinemia relationship: located_in CHEBI:16990 ! bilirubin IXalpha property_value: exactMatch DOID:2739 property_value: exactMatch http://identifiers.org/mesh/D005878 property_value: exactMatch http://identifiers.org/snomedct/27503000 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E80.4 property_value: exactMatch https://omim.org/entry/143500 property_value: exactMatch NCIT:C84729 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: EFO:0005557 name: gum cancer def: "A primary or metastatic malignant neoplasm that affects the gums." [NCIT:C9317] synonym: "cancer of gingiva" EXACT [MONDO:patterns/cancer] synonym: "gingiva cancer" EXACT [MONDO:patterns/location] synonym: "gingival cancer" EXACT [] {comment="preferred label from MONDO"} synonym: "gingival cancer" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "gum cancer" RELATED [DOID:8602] synonym: "malignant gingiva neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant gingival neoplasm" EXACT [NCIT:C9317] synonym: "malignant gingival tumor" EXACT [DOID:8602, NCIT:C9317] synonym: "malignant gingival tumour" EXACT OMO:0003005 [] synonym: "malignant gum neoplasm" EXACT [NCIT:C9317] synonym: "malignant gum tumor" EXACT [NCIT:C9317] synonym: "malignant gum tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of gingiva" EXACT [MONDO:patterns/cancer, NCIT:C9317] synonym: "malignant neoplasm of gum" EXACT [DOID:8602, ICD9CM_2006:143, NCIT:C9317] synonym: "malignant neoplasm of gum" EXACT [DOID:8602, ICD9CM:143, NCIT:C9317] synonym: "malignant neoplasm of other sites of gum" EXACT [DOID:8602] synonym: "malignant neoplasm of the gingiva" EXACT [NCIT:C9317] synonym: "malignant neoplasm of the gum" EXACT [NCIT:C9317] synonym: "malignant tumor of gingiva" EXACT [DOID:8602, NCIT:C9317] synonym: "malignant tumor of gingiva" EXACT [NCIT:C9317] synonym: "malignant tumor of gum" EXACT [NCIT:C9317] synonym: "malignant tumor of the gingiva" EXACT [NCIT:C9317] synonym: "malignant tumor of the gum" EXACT [NCIT:C9317] synonym: "malignant tumour of gingiva" EXACT [DOID:8602] synonym: "malignant tumour of gingiva" EXACT OMO:0003005 [] synonym: "malignant tumour of gum" EXACT OMO:0003005 [] synonym: "malignant tumour of the gingiva" EXACT OMO:0003005 [] synonym: "malignant tumour of the gum" EXACT OMO:0003005 [] xref: DOID:8602 {source="EFO:0005557", source="MONDO:equivalentTo"} xref: EFO:0005557 {source="MONDO:equivalentTo"} xref: ICD10:C03 {source="DOID:8602"} xref: ICD10:C03.9 {source="DOID:8602"} xref: ICD9:143 {source="DOID:8602", source="EFO:0005557"} xref: ICD9:143.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:143.8 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:143.9 {source="DOID:8602", source="MONDO:equivalentTo", source="i2s"} xref: ICD9:143.9 {source="DOID:8602", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10067807 {source="EFO:0005557"} xref: MONDO:0005507 xref: NCIT:C9317 {source="DOID:8602", source="EFO:0005557", source="MONDO:equivalentTo"} xref: SCTID:363382005 {source="DOID:8602", source="MONDO:equivalentTo"} xref: UMLS:C0153364 {source="DOID:8602", source="MONDO:equivalentTo", source="NCIT:C9317"} is_a: EFO:0005570 {source="DOID:8602", source="NCIT:C9317"} ! oral cavity cancer is_a: EFO:1000350 ! Malignant Bone Neoplasm is_a: MONDO:0021086 {source="MONDO:Redundant", source="NCIT:C9317"} ! gingival neoplasm relationship: EFO:0000784 UBERON:0001828 ! has_disease_location gingiva property_value: closeMatch http://identifiers.org/meddra/10067807 property_value: closeMatch http://identifiers.org/meddra/10067807 property_value: closeMatch http://identifiers.org/snomedct/187651005 property_value: closeMatch http://identifiers.org/snomedct/93819009 property_value: exactMatch DOID:8602 property_value: exactMatch DOID:8602 property_value: exactMatch http://identifiers.org/snomedct/363382005 property_value: exactMatch http://identifiers.org/snomedct/363382005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153364 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153364 property_value: exactMatch NCIT:C9317 property_value: exactMatch NCIT:C9317 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/cancer.yaml [Term] id: EFO:0005558 name: hemolytic anemia def: "Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies." [] def: "Hemolytic anemia that is not mediated by immune mechanisms." [NCIT:C34853] synonym: "Non-Autoimmune Hemolytic Anaemia" RELATED OMO:0003005 [] synonym: "Non-autoimmune hemolytic anaemia" RELATED OMO:0003005 [] synonym: "Non-Autoimmune Hemolytic Anemia" RELATED [NCIT:C34853] synonym: "Non-autoimmune hemolytic anemia" RELATED [UMLS:C0028283] synonym: "non-autoimmune hemolytic anemia" EXACT [] {comment="preferred label from MONDO"} synonym: "non-autoimmune hemolytic anemia" EXACT [NCIT:C34853] xref: DOID:583 xref: ICD10:D59 xref: ICD9:283.10 xref: ICD9:283.19 xref: MedDRA:10018916 xref: MedDRA:10019493 xref: MedDRA:10054397 xref: MONDO:0021559 xref: NCIt:C34376 xref: NCIT:C34853 {source="MONDO:equivalentTo", source="UMLS:C0028283"} xref: SCTID:191216004 {source="MONDO:equivalentTo", source="UMLS:C0028283"} xref: SCTID:61261009 xref: SNOMEDCT:61261009 xref: UMLS:C0028283 {source="MONDO:equivalentTo"} is_a: EFO:0004272 ! anemia (phenotype) is_a: MONDO:0004139 ! normocytic anemia disjoint_from: EFO:1001264 ! Anemia, Hemolytic, Autoimmune property_value: exactMatch http://identifiers.org/snomedct/191216004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0028283 property_value: exactMatch NCIT:C34853 property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005560 name: hereditary multiple exostoses def: "An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results_in multiple bony spurs throughout a child's growth." [] synonym: "Multiple congenital exostosis" EXACT [] synonym: "Multiple exostosis syndromes" EXACT [] xref: DOID:206 xref: NCIt:C5183 xref: OMIM:133701 xref: SNOMEDCT:254044004 is_a: EFO:0004260 ! bone disease [Term] id: EFO:0005561 name: histiocytoma def: "A mesenchymal tumor composed of fibroblastic and histiocytic cells." [NCIT:C35765] synonym: "histiocytoma" EXACT [] {comment="preferred label from MONDO"} synonym: "histiocytoma" EXACT [NCIT:C35765] synonym: "histiocytoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: DOID:4231 {source="MONDO:equivalentTo", source="EFO:0005561"} xref: EFO:0005561 {source="MONDO:equivalentTo"} xref: ICDO:8831/0 {source="NCIT:C35765"} xref: MESH:D051642 {source="MONDO:equivalentTo", source="DOID:4231", source="EFO:0005561"} xref: MONDO:0005509 xref: NCIT:C35765 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:4231", source="EFO:0005561"} xref: NCIT:C35765 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4231", source="EFO:0005561"} xref: OMIM:612160 xref: SCTID_2010_1_31:128741006 {source="EFO:0005561"} xref: SCTID_2010_1_31:154614002 {source="EFO:0005561"} xref: SCTID_2010_1_31:189773000 {source="EFO:0005561"} xref: SCTID_2010_1_31:302843004 {source="EFO:0005561"} xref: SCTID_2010_1_31:72079004 {source="EFO:0005561"} xref: UMLS:C1509147 {source="MONDO:equivalentTo", source="NCIT:C35765", source="DOID:4231", source="EFO:0005561"} is_a: EFO:0000616 {source="DOID:4231/inferred", source="EFO:0005561/inferred", source="MESH:D051642/inferred", source="NCIT:C35765/inferred"} ! neoplasm property_value: closeMatch http://identifiers.org/snomedct/128741006 property_value: closeMatch http://identifiers.org/snomedct/154614002 property_value: closeMatch http://identifiers.org/snomedct/189773000 property_value: closeMatch http://identifiers.org/snomedct/302843004 property_value: closeMatch http://identifiers.org/snomedct/72079004 property_value: exactMatch DOID:4231 property_value: exactMatch DOID:4231 property_value: exactMatch http://identifiers.org/mesh/D051642 property_value: exactMatch http://identifiers.org/mesh/D051642 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1509147 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1509147 property_value: exactMatch NCIT:C35765 property_value: exactMatch NCIT:C35765 [Term] id: EFO:0005562 name: hydronephrosis def: "Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces. It is caused by obstruction of urine flow, nephrolithiasis, or vesicoureteral reflux. Signs and symptoms include flank pain, nausea, vomiting, fever, and dysuria." [EFO:0005562] synonym: "hydronephrosis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:11111 {source="MONDO:equivalentTo", source="EFO:0005562"} xref: ICD9:591 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11111", source="EFO:0005562"} xref: MedDRA:10020524 xref: MESH:D006869 {source="MONDO:equivalentTo", source="DOID:11111", source="EFO:0005562"} xref: MeSH:D006869 xref: MONDO:0005510 xref: NCIT:C26796 {source="MONDO:equivalentTo", source="DOID:11111", source="EFO:0005562"} xref: NCIt:C26796 xref: SCTID:43064006 {source="MONDO:equivalentTo", source="DOID:11111", source="EFO:0005562"} xref: SNOMEDCT:43064006 xref: UMLS:C0020295 {source="MONDO:equivalentTo", source="NCIT:C26796", source="DOID:11111"} is_a: EFO:0003086 {source="EFO:0005562", source="MESH:D006869"} ! kidney disease is_a: EFO:0009571 {source="DOID:11111", source="NCIT:C26796"} ! urinary tract obstruction property_value: exactMatch DOID:11111 property_value: exactMatch http://identifiers.org/mesh/D006869 property_value: exactMatch http://identifiers.org/snomedct/43064006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020295 property_value: exactMatch NCIT:C26796 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005563 name: obsolete_hypercalcemia def: "An homeostasis disorder leading to an abnormally increased calcium concentration in the blood." [] synonym: "hypercalcaemia" EXACT [] xref: DOID:12678 xref: ICD9:275.42 xref: MeSH:D006934 xref: NCIt:C3112 xref: SNOMEDCT:66931009 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.62" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use HP_0003072 instead" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HP_0003072 [Term] id: EFO:0005565 name: janus kinase-3 deficiency def: "Deficiency of janus kinase-3 causing the near absence of T lymphocytes and Natural killer cells; and normal or elevated B lymphocytes due to an autosomal recessive variant of severe combined immunodeficiency." [EFO:0005565] synonym: "JAK3 deficiency" EXACT [] synonym: "janus kinase-3 deficiency" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0060008 {source="EFO:0005565", source="MONDO:equivalentTo"} xref: MONDO:0005511 xref: Wikipedia:Janus_kinase_3_deficiency {source="EFO:0005565"} is_a: MONDO:0015974 {source="DOID:0060008"} ! severe combined immunodeficiency property_value: exactMatch DOID:0060008 property_value: IAO:0000117 "Catehrine Leroy" xsd:string [Term] id: EFO:0005567 name: malignant peritoneal mesothelioma def: "An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites." [EFO:0005567] subset: ordo_disease {source="Orphanet:168811"} synonym: "advanced malignant mesothelioma of peritoneum" EXACT [DOID:1788, NCIT:C8704] synonym: "advanced malignant mesothelioma of the peritoneum" EXACT [NCIT:C8704] synonym: "advanced malignant peritoneal mesothelioma" EXACT [DOID:1788] synonym: "advanced peritoneal malignant mesothelioma" EXACT [NCIT:C8704] synonym: "diffuse malignant peritoneal mesothelioma" EXACT [Orphanet:168811] synonym: "malignant mesothelioma (disease) of peritoneum" EXACT [] synonym: "malignant mesothelioma of peritoneum" EXACT [DOID:1788] synonym: "malignant peritoneal mesothelioma" EXACT [] {comment="preferred label from MONDO"} synonym: "malignant peritoneal mesothelioma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "malignant peritoneal mesothelioma, advanced" EXACT [NCIT:C8704] synonym: "peritoneal mesothelioma" RELATED [DOID:1788] synonym: "peritoneal mesothelioma (disease), malignant" EXACT [MONDO:patterns/malignant] synonym: "peritoneum malignant mesothelioma (disease)" EXACT [MONDO:patterns/location] synonym: "primary malignant peritoneal mesothelioma" EXACT [Orphanet:168811] xref: DOID:1788 {source="EFO:0005567", source="MONDO:equivalentTo"} xref: EFO:0005567 {source="MONDO:equivalentTo"} xref: ICD10:C45.1 {source="Orphanet:168811", source="ORDO:168811/e"} xref: MedDRA:10056558 {source="Orphanet:168811", source="ORDO:168811/e"} xref: MedDRA:10056558 {source="Orphanet:168811", source="Orphanet:168811/e"} xref: MONDO:0005512 xref: NCIT:C8704 {source="MONDO:equivalentTo"} xref: NCIT:C8704 {source="DesignPattern", source="MONDO:equivalentTo"} xref: Orphanet:168811 {source="MONDO:equivalentTo"} is_a: EFO:1000355 {source="DOID:1788", source="MONDO:Redundant", source="NCIT:C8704/inferred"} ! Malignant Mesothelioma is_a: EFO:1000467 {source="MONDO:Redundant", source="MONDO:cjm", source="NCIT:C8704/inferred"} ! Peritoneal Mesothelioma is_a: MONDO:0002087 {source="DOID:1788", source="MONDO:Redundant", source="NCIT:C8704/inferred"} ! peritoneum cancer relationship: EFO:0000784 UBERON:0002358 ! has_disease_location peritoneum property_value: closeMatch http://identifiers.org/meddra/10056558 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0854886 property_value: closeMatch NCIT:C9350 property_value: exactMatch DOID:1788 property_value: exactMatch DOID:1788 property_value: exactMatch http://identifiers.org/meddra/10056558 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346109 property_value: exactMatch NCIT:C8704 property_value: exactMatch NCIT:C8704 property_value: exactMatch Orphanet:168811 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:0005568 name: methylmalonic aciduria and homocystinuria type cblE def: "Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.intellectual deficit and seizures." [] xref: DOID:0050732 is_a: EFO:0000508 ! genetic disorder property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005569 name: microphthalmia def: "An eye disease where one or both eyeballs are abnormally small." [] def: "Congenital or developmental anomaly in which the eyeballs are abnormally small." [MESH:D008850] synonym: "microphthalmia" EXACT [MONDO:ambiguous] synonym: "microphthalmia" EXACT [] {comment="preferred label from MONDO"} synonym: "microphthalmos" EXACT [] synonym: "microphthalmos" NARROW [DOID:10629] synonym: "nanophthalmos" NARROW [DOID:10629] synonym: "simple microphthalmos" EXACT [DOID:10629] xref: DOID:10629 {source="MONDO:equivalentTo", source="EFO:0005569"} xref: HP:0000568 {source="MONDO:otherHierarchy"} xref: ICD9:743.1 {source="EFO:0005569", source="DOID:10629"} xref: ICD9:743.10 {source="DOID:10629"} xref: ICD9:743.11 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10629"} xref: MedDRA:10027547 xref: MESH:D008850 {source="MONDO:equivalentTo", source="EFO:0005569", source="DOID:10629"} xref: MeSH:D008850 xref: MONDO:0021129 xref: NCIT:C98989 {source="MONDO:equivalentTo", source="EFO:0005569", source="DOID:10629"} xref: NCIt:C98989 xref: OMIM:614402 xref: OMIM:615972 xref: SCTID:204108000 {source="MONDO:equivalentTo", source="DOID:10629"} xref: SNOMEDCT:61142002 is_a: EFO:0003966 {source="DOID:10629", source="EFO:0005569", source="MESH:D008850/inferred", source="NCIT:C98989/inferred"} ! eye disease property_value: exactMatch DOID:10629 property_value: exactMatch http://identifiers.org/mesh/D008850 property_value: exactMatch http://identifiers.org/snomedct/204108000 property_value: exactMatch NCIT:C98989 property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4626 xsd:anyURI [Term] id: EFO:0005570 name: oral cavity cancer def: "A primary or metastatic malignant neoplasm involving the oral cavity. The majority are squamous cell carcinomas." [NCIT:C9314] synonym: "cancer of oral cavity" EXACT [MONDO:patterns/cancer] synonym: "malignant mouth neoplasm" EXACT [NCIT:C9314] synonym: "malignant mouth tumor" EXACT [NCIT:C9314] synonym: "malignant mouth tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of anterior portion of floor of mouth" NARROW [DOID:8618] synonym: "malignant neoplasm of floor of mouth" NARROW [DOID:8618, MTH:NOCODE] synonym: "malignant neoplasm of lateral floor of mouth" NARROW [DOID:8618, MTH:U001372] synonym: "malignant neoplasm of lateral portion of floor of mouth" NARROW [DOID:8618] synonym: "malignant neoplasm of mouth" EXACT [NCIT:C9314] synonym: "malignant neoplasm of oral cavity" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the mouth" EXACT [NCIT:C9314] synonym: "malignant oral cavity neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9314] synonym: "malignant oral cavity tumor" EXACT [NCIT:C9314] synonym: "malignant oral cavity tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of anterior floor of mouth" EXACT [DOID:8618] synonym: "malignant tumor of lateral floor of mouth" EXACT [DOID:8618] synonym: "malignant tumor of mouth" EXACT [NCIT:C9314] synonym: "malignant tumor of oral cavity" EXACT [] synonym: "malignant tumor of the floor of the mouth" NARROW [DOID:8618, NCIT:C9318] synonym: "malignant tumor of the mouth" EXACT [NCIT:C9314] synonym: "malignant tumour of anterior floor of mouth" EXACT OMO:0003005 [] synonym: "malignant tumour of lateral floor of mouth" EXACT OMO:0003005 [] synonym: "malignant tumour of mouth" EXACT OMO:0003005 [] synonym: "malignant tumour of oral cavity" EXACT OMO:0003005 [] synonym: "malignant tumour of the floor of the mouth" NARROW OMO:0003005 [] synonym: "malignant tumour of the mouth" EXACT OMO:0003005 [] synonym: "mouth cancer" RELATED [] synonym: "oral cavity cancer" EXACT [MONDO:patterns/location] synonym: "oral cavity cancer" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "oral cavity cancer" EXACT [] {comment="preferred label from MONDO"} xref: COHD:25189 {source="MONDO:equivalentTo"} xref: DOID:8618 {source="MONDO:equivalentTo", source="EFO:0005570"} xref: EFO:0005570 {source="MONDO:equivalentTo"} xref: ICD10:C04 {source="DOID:8618"} xref: ICD10:C04.0 {source="DOID:8618"} xref: ICD10:C04.1 {source="DOID:8618"} xref: ICD10:C04.9 {source="DOID:8618"} xref: ICD9:144 {source="DOID:8618", source="EFO:0005570"} xref: ICD9:144.0 {source="DOID:8618"} xref: ICD9:144.1 {source="DOID:8618"} xref: ICD9:144.9 {source="MONDO:relatedTo", source="DOID:8618"} xref: ICD9:145.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:145.8 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:145.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:145.9 {source="MONDO:equivalentTo", source="i2s"} xref: ICD9:149.8 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:149.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10025923 xref: MedDRA:10025930 xref: MedDRA:10025931 xref: MedDRA:10025932 xref: MedDRA:10025933 xref: MedDRA:10025934 xref: MedDRA:10025935 xref: MedDRA:10025936 xref: MONDO:0005515 xref: NCIT:C9314 {source="MONDO:equivalentTo", source="EFO:0005570"} xref: SCTID:363385007 {source="MONDO:relatedTo", source="DOID:8618"} xref: SCTID:363505006 {source="MONDO:equivalentTo"} is_a: EFO:0003868 {source="MONDO:Redundant", source="NCIT:C9314"} ! mouth neoplasm is_a: EFO:0006859 ! head and neck malignant neoplasia is_a: MONDO:0002516 {source="DOID:8618", source="MONDO:Entailed", source="MONDO:Redundant"} ! digestive system cancer relationship: EFO:0000784 UBERON:0003679 ! has_disease_location mouth floor property_value: closeMatch http://identifiers.org/snomedct/187652003 property_value: closeMatch http://identifiers.org/snomedct/187653008 property_value: closeMatch http://identifiers.org/snomedct/187656000 property_value: closeMatch http://identifiers.org/snomedct/93672006 property_value: closeMatch http://identifiers.org/snomedct/93802007 property_value: closeMatch http://identifiers.org/snomedct/93860002 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153368 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153369 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153381 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0496758 property_value: exactMatch DOID:8618 property_value: exactMatch DOID:8618 property_value: exactMatch http://identifiers.org/snomedct/363505006 property_value: exactMatch http://identifiers.org/snomedct/363505006 property_value: exactMatch NCIT:C9314 property_value: exactMatch NCIT:C9314 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/cancer.yaml [Term] id: EFO:0005571 name: osteochondrodysplasia def: "A bone development disease that results_in defective development of cartilage or bone." [] def: "A term referring to disorders characterized by abnormalities in the development of bones and cartilage." [NCIT:C84978] synonym: "Cartilage Development disorder" EXACT [] synonym: "cartilage development disorder" NARROW [DOID:2256, NCIT:C34466] synonym: "chondrodystrophy" EXACT [] synonym: "Congenital anomaly of cartilage" EXACT [] synonym: "congenital anomaly of cartilage" NARROW [DOID:2256] synonym: "congenital skeletal dysplasia" EXACT [NCIT:C84978] synonym: "osteochondrodysplasia" EXACT [NCIT:C84978] synonym: "osteochondrodysplasia" EXACT [] {comment="preferred label from MONDO"} synonym: "osteochondrodysplasia syndrome" EXACT [DOID:2256] synonym: "skeletal dysplasia" RELATED [NCIT:C84978] xref: DOID:2256 {source="MONDO:equivalentTo", source="EFO:0005571"} xref: ICD10:Q77 xref: ICD9:756.4 {source="DOID:2256", source="EFO:0005571"} xref: MESH:D010009 {source="DOID:2256", source="MONDO:equivalentTo"} xref: MONDO:0005516 xref: NCIT:C84978 {source="DOID:2256", source="MONDO:equivalentTo", source="EFO:0005571"} xref: NCIt:C84978 xref: OMIM:616897 xref: SCTID:105985007 {source="DOID:2256", source="MONDO:equivalentTo"} xref: SNOMEDCT:240190009 xref: UMLS:C0029422 {source="DOID:2256", source="NCIT:C84978", source="MONDO:equivalentTo"} is_a: EFO:0005541 {source="DOID:2256", source="EFO:0005571"} ! bone development disease property_value: exactMatch DOID:2256 property_value: exactMatch http://identifiers.org/mesh/D010009 property_value: exactMatch http://identifiers.org/snomedct/105985007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029422 property_value: exactMatch NCIT:C84978 [Term] id: EFO:0005575 name: obsolete_penis carcinoma def: "A penile cancer that is located_in the skin or tissues of the penis." [] synonym: "Penile carcinoma" EXACT [] xref: DOID:3449 xref: NCIt:C9061 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.70" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use EFO_1000465 Penile Carcinoma instead" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_1000465 [Term] id: EFO:0005576 name: pernicious anemia def: "Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells or caused by defective production of intrinsic factor (a carrier protein) by the gastric mucosa." [] def: "Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells." [NCIT:P378] synonym: "acquired pernicious anaemia" EXACT OMO:0003005 [] synonym: "acquired pernicious anemia" EXACT [Orphanet:120] synonym: "Addison anaemia" EXACT OMO:0003005 [] synonym: "Addison anemia" EXACT [] synonym: "Addison's anaemia" EXACT OMO:0003005 [] synonym: "Addison's anemia" EXACT [DOID:13381] synonym: "Addison-Biermer anaemia" EXACT OMO:0003005 [] synonym: "Addison-Biermer anemia" EXACT [Orphanet:120] synonym: "anaemia pernicious" EXACT OMO:0003005 [] synonym: "anemia pernicious" EXACT [DOID:13381, MTH:NOCODE] synonym: "Biermer anaemia" EXACT OMO:0003005 [] synonym: "Biermer anemia" EXACT [Orphanet:120] synonym: "Biermer disease" EXACT [Orphanet:120] synonym: "Biermer's anaemia" EXACT OMO:0003005 [] synonym: "Biermer's anemia" EXACT [DOID:13381] synonym: "intrinsic factor deficiency" EXACT [NCIT:C2871] synonym: "juvenile onset pernicious anaemia" EXACT OMO:0003005 [] synonym: "juvenile onset pernicious anemia" EXACT [Orphanet:120] synonym: "pernicious anemia" EXACT [] {comment="preferred label from MONDO"} synonym: "pernicious anemia" EXACT [OMIM:170900] xref: DOID:13381 {source="EFO:0005576", source="MONDO:equivalentTo"} xref: ICD9:281.0 {source="EFO:0005576", source="DOID:13381", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10034697 xref: MedDRA:10070438 xref: MESH:D000752 {source="DOID:13381", source="MONDO:equivalentTo"} xref: MeSH:D000752 xref: MONDO:0008228 xref: NCIT:C2871 {source="EFO:0005576", source="DOID:13381", source="MONDO:equivalentTo"} xref: NCIt:C2871 xref: OMIM:170900 {source="DOID:13381", source="MONDO:equivalentTo"} xref: Orphanet:120 {source="MONDO:equivalentObsolete", source="OMIM:170900"} xref: SCTID:84027009 {source="EFO:0005576", source="DOID:13381", source="MONDO:equivalentTo"} xref: SNOMEDCT:84027009 xref: UMLS:C0002892 {source="DOID:13381", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:170900", source="NCIT:C2871"} is_a: EFO:0000508 {source="MONDO:Redundant", source="MONDO:indirect"} ! genetic disorder is_a: EFO:0010283 ! blood disease is_a: EFO:1001067 {source="DOID:13381", source="MESH:D000752/inferred"} ! nutritional deficiency disease is_a: MONDO:0001700 {source="NCIT:C2871"} ! megaloblastic anemia is_a: MONDO:0019052 ! inborn errors of metabolism relationship: EFO:0000784 UBERON:0000178 ! has_disease_location blood property_value: exactMatch DOID:13381 property_value: exactMatch http://identifiers.org/mesh/D000752 property_value: exactMatch http://identifiers.org/snomedct/84027009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002892 property_value: exactMatch https://omim.org/entry/170900 property_value: exactMatch NCIT:C2871 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:0005577 name: pharynx cancer def: "A primary or metastatic malignant neoplasm that affects the pharynx." [NCIT:C7545] synonym: "cancer of chordate pharynx" EXACT [MONDO:patterns/cancer] synonym: "cancer of pharynx" EXACT [MONDO:patterns/cancer] synonym: "chordate pharynx cancer" EXACT [] synonym: "malignant chordate pharynx neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of chordate pharynx" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of pharynx" EXACT [MONDO:patterns/cancer] synonym: "malignant pharyngeal neoplasm" EXACT [NCIT:C7545] synonym: "malignant pharyngeal tumor" EXACT [NCIT:C7545] synonym: "malignant pharyngeal tumour" EXACT OMO:0003005 [] synonym: "malignant pharynx neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7545] synonym: "malignant pharynx tumor" EXACT [NCIT:C7545] synonym: "malignant pharynx tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of pharynx" EXACT [NCIT:C7545] synonym: "malignant tumor of the pharynx" EXACT [NCIT:C7545] synonym: "malignant tumour of pharynx" EXACT OMO:0003005 [] synonym: "malignant tumour of the pharynx" EXACT OMO:0003005 [] synonym: "pharyngeal cancer" RELATED [DOID:0060119] synonym: "pharyngeal neoplasm" EXACT [DOID:0060119] synonym: "pharynx cancer" EXACT [MONDO:patterns/location] synonym: "pharynx cancer" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "pharynx cancer" EXACT [] {comment="preferred label from MONDO"} synonym: "pharynx neoplasm" BROAD [DOID:0060119] xref: DOID:0060119 {source="EFO:0005577", source="MONDO:equivalentTo"} xref: EFO:0005577 {source="MONDO:equivalentTo"} xref: MESH:D010610 {source="MONDO:equivalentTo", source="DOID:0060119"} xref: MONDO:0005517 xref: NCIT:C7545 {source="EFO:0005577", source="MONDO:equivalentTo"} is_a: MONDO:0000376 ! respiratory system cancer is_a: MONDO:0002516 {source="DOID:0060119", source="MONDO:Entailed", source="MONDO:Redundant"} ! digestive system cancer is_a: MONDO:0020592 ! disorder of pharynx is_a: MONDO:0021246 {source="MONDO:Redundant", source="NCIT:C7545"} ! pharynx neoplasm is_a: MONDO:0021310 {source="NCIT:C7545"} ! malignant tumor of neck relationship: EFO:0000784 UBERON:0001042 ! has_disease_location chordate pharynx property_value: closeMatch http://identifiers.org/snomedct/126685009 property_value: closeMatch http://identifiers.org/snomedct/363507003 property_value: closeMatch http://identifiers.org/snomedct/95001001 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0031347 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153405 property_value: exactMatch DOID:0060119 property_value: exactMatch DOID:0060119 property_value: exactMatch http://identifiers.org/mesh/D010610 property_value: exactMatch http://identifiers.org/mesh/D010610 property_value: exactMatch NCIT:C7545 property_value: exactMatch NCIT:C7545 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/cancer.yaml [Term] id: EFO:0005578 name: pituitary cancer def: "A primary or metastatic malignant neoplasm affecting the pituitary gland. Representative examples include functioning or non-functioning carcinomas arising from the anterior lobe of the pituitary gland, chordomas, chondrosarcomas, and metastatic carcinomas from the breast, lung, and gastrointestinal tract." [NCIT:C4769] def: "An endocrine gland cancer located_in the pituitary gland located at the base of the brain." [] synonym: "cancer of pituitary gland" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of pituitary" EXACT [NCIT:C4769] synonym: "malignant neoplasm of pituitary gland" EXACT [MONDO:patterns/cancer, NCIT:C4769] synonym: "malignant neoplasm of the pituitary" EXACT [NCIT:C4769] synonym: "malignant neoplasm of the pituitary gland" EXACT [NCIT:C4769] synonym: "malignant pituitary gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4769] synonym: "malignant pituitary gland tumor" EXACT [NCIT:C4769] synonym: "malignant pituitary gland tumour" EXACT OMO:0003005 [] synonym: "malignant Pituitary neoplasm" EXACT [] synonym: "malignant pituitary neoplasm" EXACT [DOID:1785, NCIT:C4769] synonym: "malignant pituitary tumor" EXACT [NCIT:C4769] synonym: "malignant pituitary tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of pituitary" EXACT [NCIT:C4769] synonym: "malignant tumor of pituitary gland" EXACT [NCIT:C4769] synonym: "malignant tumor of the pituitary" EXACT [NCIT:C4769] synonym: "malignant tumor of the pituitary gland" EXACT [NCIT:C4769] synonym: "malignant tumour of pituitary" EXACT OMO:0003005 [] synonym: "malignant tumour of pituitary gland" EXACT OMO:0003005 [] synonym: "malignant tumour of the pituitary" EXACT OMO:0003005 [] synonym: "malignant tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "pituitary cancer" EXACT [] {comment="preferred label from MONDO"} synonym: "pituitary gland cancer" EXACT [DOID:1785] synonym: "Pituitary gland neoplasm" EXACT [] synonym: "pituitary gland neoplasm" BROAD [DOID:1785, NCIT:C3330] synonym: "pituitary neoplasm" BROAD [DOID:1785] synonym: "pituitary neoplasms, malignant" EXACT [NCIT:C4769] synonym: "pituitary tumor, malignant" EXACT [NCIT:C4769] xref: DOID:1785 {source="MONDO:equivalentTo"} xref: MONDO:0002109 xref: NCIt:C3330 xref: NCIT:C4769 {source="MONDO:equivalentTo", source="DOID:1785"} xref: SCTID:363482009 {source="MONDO:equivalentTo", source="DOID:1785"} xref: UMLS:C0496842 {source="MONDO:equivalentTo", source="DOID:1785", source="NCIT:C4769"} is_a: MONDO:0002132 ! skull cancer is_a: MONDO:0003766 ! thalamic cancer is_a: MONDO:0017611 {source="MONDO:Redundant", source="NCIT:C4769"} ! pituitary tumor is_a: MONDO:0021069 ! malignant endocrine neoplasm relationship: EFO:0000784 UBERON:0000007 ! has_disease_location pituitary gland property_value: exactMatch DOID:1785 property_value: exactMatch http://identifiers.org/snomedct/363482009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0496842 property_value: exactMatch NCIT:C4769 [Term] id: EFO:0005579 name: pseudohermaphroditism def: "A condition consisting of possessing the internal reproductive organs of one sex while exhibiting some of the secondary sex characteristics of the opposite sex." [NCIT:C124575] def: "Condition in which an organism is born with primary sex characteristics of one sex but develops the secondary sex characteristics that are different from what would be expected on the basis of the gonadal tissue (ovary ortestis)." [] synonym: "Indeterminate sex and pseudohermaphroditism" EXACT [] synonym: "indeterminate sex and pseudohermaphroditism" RELATED [DOID:3765] synonym: "pseudohermaphroditism" EXACT [] {comment="preferred label from MONDO"} xref: DOID:3765 {source="EFO:0005579", source="MONDO:equivalentTo"} xref: ICD10CM:Q56 {source="MONDO:relatedTo", source="DOID:3765"} xref: ICD10CM:Q56.3 {source="MONDO:equivalentToOther", source="DOID:3765"} xref: ICD9:752.7 {source="EFO:0005579", source="DOID:3765"} xref: MedDRA:10037122 xref: MONDO:0005518 xref: NCIT:C124575 {source="MONDO:equivalentTo"} xref: SCTID:75164001 {source="EFO:0005579", source="MONDO:equivalentTo", source="DOID:3765"} xref: SNOMEDCT:75164001 xref: Wikipedia:Pseudohermaphroditism {source="EFO:0005579"} is_a: MONDO:0024665 {source="ICD10CM:Q56.3"} ! indeterminate sex and/or pseudohermaphroditism property_value: exactMatch DOID:3765 property_value: exactMatch http://identifiers.org/snomedct/75164001 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q56.3 property_value: exactMatch NCIT:C124575 property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005580 name: red color blindness def: "Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males." [EFO:0005580] synonym: "CBP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:303900] synonym: "colorblindness, partial, protan series" RELATED [MONDO:Lexical, OMIM:303900] synonym: "colorblindness, protan" EXACT [OMIM:303900, OMIM:genemap2] synonym: "DOID:13910" EXACT [] synonym: "partial achromatopsia, protan type" EXACT [Orphanet:319691] synonym: "Protan defect" EXACT [] synonym: "protan defect" EXACT [DOID:13910, ICD9CM:368.51] synonym: "protanomaly" RELATED [OMIM:303900] synonym: "Protanopia" EXACT [] synonym: "protanopia" EXACT [DOID:13910, OMIM:303900] synonym: "red color blindness" EXACT [] {comment="preferred label from MONDO"} synonym: "red colorblindness" RELATED [OMIM:303900] synonym: "red colour blindness" EXACT [] xref: DOID:13910 {source="MONDO:equivalentTo", source="EFO:0005580"} xref: ICD10CM:H53.54 {source="DOID:13910", source="MONDO:equivalentTo"} xref: ICD9:368.51 {source="DOID:13910", source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0005580"} xref: MONDO:0010565 xref: OMIM:303900 {source="DOID:13910", source="MONDO:equivalentTo"} xref: Orphanet:319691 {source="MONDO:equivalentObsolete", source="OMIM:303900"} xref: SCTID:51445007 {source="DOID:13910", source="MONDO:equivalentTo", source="EFO:0005580"} xref: SNOMEDCT:51445007 xref: Wikipedia:Color_blindness is_a: EFO:0003966 {source="DOID:13910/inferred", source="EFO:0005580/inferred", source="MONDO:Redundant", source="OMIM:303900/inferred"} ! eye disease is_a: MONDO:0001703 {source="MONDO:cjm"} ! color vision disorder is_a: Orphanet:98658 ! Color-vision disease relationship: EFO:0000784 UBERON:0000970 ! has_disease_location eye property_value: exactMatch DOID:13910 property_value: exactMatch http://identifiers.org/snomedct/51445007 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H53.54 property_value: exactMatch https://omim.org/entry/303900 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: EFO:0005581 name: red-green color blindness def: "Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population." [EFO:0005581] synonym: "CBD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:303800] synonym: "colorblindness, deutan" EXACT [OMIM:303800, OMIM:genemap2] synonym: "colorblindness, partial, DEUTAN series" RELATED [MONDO:Lexical, OMIM:303800] synonym: "Deutan colorblindness" RELATED [OMIM:303800] synonym: "Deutan defect" EXACT [DOID:13909, ICD9CM:368.52] synonym: "Deuteranomaly" RELATED [OMIM:303800] synonym: "Deuteranopia" EXACT [] synonym: "deuteranopia" EXACT [DOID:13909, OMIM:303800, Orphanet:319698] synonym: "Green colorblindness" RELATED [OMIM:303800] synonym: "partial achromatopsia, deutan type" EXACT [Orphanet:319698] synonym: "red-green color blindness" EXACT [] {comment="preferred label from MONDO"} synonym: "red-green colour blindness" EXACT [] synonym: "reduced red-green discrimination" EXACT [DOID:13909] xref: DOID:13909 {source="MONDO:equivalentTo", source="EFO:0005581"} xref: ICD10CM:H53.53 {source="MONDO:equivalentTo", source="DOID:13909"} xref: ICD9:368.52 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13909", source="EFO:0005581"} xref: MONDO:0010564 xref: OMIM:303800 {source="MONDO:equivalentTo", source="DOID:13909", source="EFO:0005581"} xref: OMIM:303900 xref: Orphanet:319698 {source="MONDO:equivalentObsolete", source="OMIM:303800", source="DOID:13909"} xref: SCTID:77479002 {source="MONDO:equivalentTo", source="DOID:13909", source="EFO:0005581"} xref: SNOMEDCT:77479002 xref: UMLS:C0155016 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:303800", source="DOID:13909"} xref: Wikipedia:Color_blindness is_a: MONDO:0000014 {source="DC-OMIM:303800"} ! colorblindness, partial is_a: Orphanet:98658 ! Color-vision disease property_value: exactMatch DOID:13909 property_value: exactMatch http://identifiers.org/snomedct/77479002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155016 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H53.53 property_value: exactMatch https://omim.org/entry/303800 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: EFO:0005582 name: renal pelvis carcinoma def: "A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas." [EFO:0005582] synonym: "cancer of renal pelvis" BROAD [MONDO:patterns/cancer] synonym: "cancer of renal pelvis" EXACT [MONDO:patterns/cancer] synonym: "carcinoma of kidney pelvis" EXACT [DOID:4919, NCIT:C6142] synonym: "carcinoma of renal pelvis" EXACT [MONDO:patterns/carcinoma, NCIT:C6142] synonym: "carcinoma of the kidney pelvis" EXACT [NCIT:C6142] synonym: "carcinoma of the renal pelvis" EXACT [NCIT:C6142] synonym: "kidney pelvis carcinoma" EXACT [NCIT:C6142] synonym: "kidney renal pelvis cancer" EXACT [NCIT:C6142] synonym: "malignant neoplasm of renal pelvis" BROAD [DOID:4919, ICD9CM:189.1, MONDO:patterns/cancer] synonym: "malignant neoplasm of renal pelvis" EXACT [DOID:4919, ICD9CM_2006:189.1, MONDO:patterns/cancer] synonym: "malignant renal pelvis neoplasm" BROAD [DOID:4919, MONDO:patterns/cancer, NCIT:C7525] synonym: "malignant renal pelvis neoplasm" EXACT [DOID:4919, MONDO:patterns/cancer, NCIT:C7525] synonym: "malignant tumour of renal pelvis" BROAD OMO:0003005 [] synonym: "renal pelvis cancer" BROAD [DOID:4919, MONDO:patterns/location] synonym: "renal pelvis cancer" EXACT [DOID:4919, MONDO:patterns/location] synonym: "renal pelvis carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "renal pelvis carcinoma" EXACT [NCIT:C6142] synonym: "renal pelvis carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: DOID:4919 {source="MONDO:equivalentTo", source="EFO:0005582"} xref: EFO:0005582 {source="MONDO:equivalentTo"} xref: ICD10:C65 {source="DOID:4919", source="MONDO:equivalentTo"} xref: ICD10CM:C65 {source="DOID:4919", source="MONDO:equivalentTo"} xref: ICD9:189.1 {source="DOID:4919", source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0005582"} xref: ICD9:189.1 {source="DOID:4919", source="MONDO:equivalentTo", source="i2s", source="EFO:0005582"} xref: MONDO:0005519 xref: NCIT:C6142 {source="DOID:4919", source="MONDO:equivalentTo", source="EFO:0005582"} xref: SCTID:363457009 {source="DOID:4919", source="MONDO:equivalentTo"} xref: UMLS:C0153618 {source="DOID:4919", source="MONDO:equivalentTo"} xref: UMLS:C1335749 {source="DOID:4919", source="MONDO:equivalentTo"} is_a: EFO:0002890 {source="MONDO:Redundant", source="NCIT:C6142"} ! renal carcinoma is_a: MONDO:0044919 ! malignant renal pelvis neoplasm relationship: EFO:0000784 UBERON:0002113 ! has_disease_location kidney property_value: closeMatch http://identifiers.org/snomedct/188254006 property_value: closeMatch http://identifiers.org/snomedct/93985007 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3163938 property_value: exactMatch DOID:4919 property_value: exactMatch DOID:4919 property_value: exactMatch http://identifiers.org/snomedct/363457009 property_value: exactMatch http://identifiers.org/snomedct/363457009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153618 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153618 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335749 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335749 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/C65 property_value: exactMatch NCIT:C6142 property_value: exactMatch NCIT:C6142 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:0005583 name: rickets def: "A bone remodeling disease that has_material_basis_in a vitamin D deficiency in children which results_in softening and deformity located_in bone." [] def: "Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities." [NCIT:P378] subset: gard_rare synonym: "active rickets" EXACT [] synonym: "active rickets" RELATED [DOID:10609] synonym: "hypovitaminosis D" RELATED [GARD:0005700] synonym: "nutritional rickets" RELATED [GARD:0005700] synonym: "rachitis" EXACT [NCIT:C26878] synonym: "rickets" EXACT [] {comment="preferred label from MONDO"} synonym: "rickets" EXACT [MONDO:ambiguous] synonym: "rickets (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "vitamin D deficiency disease" RELATED [GARD:0005700] synonym: "vitamin D hydroxylation-deficient rickets" EXACT [DOID:10609] synonym: "vitamin D-dependent rickets" EXACT [] synonym: "vitamin-D deficiency rickets" RELATED [GARD:0005700] xref: DOID:10609 {source="MONDO:equivalentTo", source="EFO:0005583"} xref: HP:0002748 {source="MONDO:otherHierarchy"} xref: ICD9:268.0 {source="DOID:10609"} xref: MedDRA:10039119 xref: MedDRA:10039124 xref: MedDRA:10039125 xref: MESH:D012279 {source="MONDO:equivalentTo", source="DOID:10609", source="EFO:0005583"} xref: MeSH:D012279 xref: MONDO:0005520 xref: NCIT:C26878 {source="MONDO:equivalentTo", source="DOID:10609", source="EFO:0005583"} xref: NCIt:C26878 xref: SCTID:41345002 {source="MONDO:equivalentTo", source="DOID:10609", source="EFO:0005583"} xref: SCTID:68295002 {source="MONDO:relatedTo", source="DOID:10609"} xref: SNOMEDCT:41345002 xref: UMLS:C0035579 {source="MONDO:equivalentTo", source="DOID:10609", source="NCIT:C26878"} xref: UMLS:C0221468 {source="MONDO:relatedTo", source="DOID:10609"} is_a: MONDO:0000833 {source="DOID:10609", source="PMID:20936937"} ! bone remodeling disease relationship: RO:0001000 EFO:0003762 ! derives_from vitamin D deficiency property_value: exactMatch DOID:10609 property_value: exactMatch http://identifiers.org/mesh/D012279 property_value: exactMatch http://identifiers.org/snomedct/41345002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035579 property_value: exactMatch NCIT:C26878 property_value: IAO:0000589 "rickets (disease)" xsd:string [Term] id: EFO:0005584 name: seborrheic keratosis def: "A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions." [NCIT:P378] def: "seborrheic keratosis is a noncancerous benign skin growth that originates in keratinocytes. Like liver spots, seborrheic keratoses are seen more often as people age. In fact, they are sometimes humorously referred to as the \"barnacles of old age\".\n\nThe lesions appear in various colors, from light tan to black. They are round or oval, feel flat or slightly elevated (like the scab from a healing wound), and range in size from very small to more than 2.5 centimetres (1 in) across. They can resemble warts,[4] though they have no viral origins. They can also resemble melanoma skin cancer, though they are unrelated to melanoma. Because only the top layers of the epidermis are involved, seborrheic keratoses are often described as having a \"pasted on\" appearance." [] synonym: "basal cell papilloma" EXACT [NCIT:C9006] synonym: "keratosis Seborrheica" EXACT [NCIT:C9006] synonym: "keratosis, seborrheic" EXACT [] synonym: "keratosis, seborrheic" RELATED [OMIM:182000] synonym: "keratosis, seborrheic, somatic" EXACT [OMIM:182000, OMIM:genemap2] synonym: "seborrheic keratosis" EXACT [] {comment="preferred label from MONDO"} synonym: "seborrheic verruca" EXACT [] synonym: "senile wart" EXACT [] xref: DOID:6498 {source="MONDO:equivalentTo", source="EFO:0005584"} xref: ICD10:L82 xref: ICD10CM:L82 {source="DOID:6498", source="MONDO:equivalentTo"} xref: ICD9:702.1 {source="DOID:6498", source="EFO:0005584"} xref: MedDRA:10039791 xref: MESH:D017492 {source="DOID:6498", source="MONDO:equivalentTo", source="EFO:0005584"} xref: MeSH:D017492 xref: MONDO:0008420 xref: NCIT:C9006 {source="DOID:6498", source="MONDO:equivalentTo", source="EFO:0005584"} xref: NCIt:C9006 xref: OMIM:182000 {source="DOID:6498", source="MONDO:equivalentTo", source="EFO:0005584"} xref: SCTID:398838000 {source="DOID:6498", source="MONDO:relatedTo", source="EFO:0005584"} xref: SNOMEDCT:25499005 xref: SNOMEDCT:398838000 xref: UMLS:C0022603 {source="DOID:6498", source="NCIT:C9006", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:182000"} xref: Wikipedia:Seborrheic_keratosis {source="EFO:0005584"} is_a: EFO:1000720 {source="DOID:6498", source="MESH:D017492"} ! keratosis is_a: MONDO:0100118 ! hereditary skin disorder relationship: EFO:0000784 UBERON:0000014 ! has_disease_location zone of skin property_value: exactMatch DOID:6498 property_value: exactMatch http://identifiers.org/mesh/D017492 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022603 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L82 property_value: exactMatch https://omim.org/entry/182000 property_value: exactMatch NCIT:C9006 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: relatedMatch http://identifiers.org/snomedct/398838000 [Term] id: EFO:0005585 name: shigellosis def: "A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces." [] def: "Shigellosis is a bacterial infection leading to dysentery and is caused by Shigella, which are small, ubiquitous Gram-negative bacteria belonging to the enterobacteria family. There are four species: S. dysenteriae, S. flexneri, S. boydii and S. sonnei, all of which cause bacillary dysentery and are strictly limited to human hosts." [Orphanet:810] subset: gard_rare {source="GARD:0004818"} subset: ordo_disease {source="Orphanet:810"} synonym: "bacillary dysentery" EXACT [DOID:12385] synonym: "flexner's dysentery" RELATED [] synonym: "japanese dysentery" RELATED [] synonym: "Shigella boydii infectious disease" EXACT [] synonym: "Shigella boydii infectious disease" NARROW [DOID:12385] synonym: "Shigella dysentery" RELATED [] synonym: "Shigella flexneri infectious disease" EXACT [] synonym: "Shigella flexneri infectious disease" NARROW [DOID:12385] synonym: "Shigella gastroenteritis" EXACT [DOID:12385] synonym: "Shigella sonnei infectious disease" EXACT [] synonym: "Shigella sonnei infectious disease" NARROW [DOID:12385] synonym: "shigellosis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:12385 {source="EFO:0005585", source="MONDO:equivalentTo"} xref: ICD10:A03 xref: ICD10CM:A03 {source="MONDO:equivalentTo", source="DOID:12385"} xref: ICD9:004 {source="EFO:0005585", source="DOID:12385"} xref: ICD9:004.0 {source="DOID:12385"} xref: ICD9:004.1 {source="DOID:12385"} xref: ICD9:004.2 {source="DOID:12385"} xref: ICD9:004.3 {source="DOID:12385"} xref: ICD9:004.9 {source="DOID:12385"} xref: MedDRA:10017915 {source="Orphanet:810", source="Orphanet:810/e"} xref: MedDRA:10040553 xref: MedDRA:10040554 xref: MedDRA:10054178 {source="Orphanet:810", source="Orphanet:810/e"} xref: MESH:D004405 {source="MONDO:equivalentTo", source="DOID:12385"} xref: MONDO:0019345 xref: NCIT:C157978 {source="MONDO:equivalentTo"} xref: Orphanet:810 {source="MONDO:equivalentTo"} xref: SCTID:36188001 {source="EFO:0005585", source="MONDO:equivalentTo", source="DOID:12385"} xref: SNOMEDCT:36188001 is_a: EFO:1001869 {source="EFO:0005585", source="MESH:D004405"} ! dysentery is_a: MONDO:0000314 {source="DOID:12385"} ! primary bacterial infectious disease is_a: MONDO:0024634 ! large intestine disorder relationship: EFO:0000784 UBERON:0000059 ! has_disease_location large intestine relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare property_value: closeMatch http://identifiers.org/meddra/10017915 property_value: closeMatch http://identifiers.org/meddra/10054178 property_value: exactMatch DOID:12385 property_value: exactMatch http://identifiers.org/mesh/D004405 property_value: exactMatch http://identifiers.org/snomedct/36188001 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A03 property_value: exactMatch NCIT:C157978 property_value: exactMatch Orphanet:810 property_value: gwas:trait "true" xsd:boolean property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4818/shigellosis xsd:anyURI {source="GARD:0004818"} [Term] id: EFO:0005588 name: small intestine carcinoma def: "A carcinoma that arises from epithelial cells of the small intestine" [https://orcid.org/0000-0002-6601-2165] def: "A carcinoma that arises from epithelial cells of the small intestine" [MONDO:DesignPattern] synonym: "cancer of small bowel" BROAD [NCIT:C7724] synonym: "cancer of the small bowel" BROAD [DOID:4907, NCIT:C7724] synonym: "carcinoma of small bowel" EXACT [NCIT:C7724] synonym: "carcinoma of small intestine" EXACT [MONDO:patterns/carcinoma, NCIT:C7724] synonym: "carcinoma of the small bowel" EXACT [NCIT:C7724] synonym: "carcinoma of the small intestine" EXACT [NCIT:C7724] synonym: "small bowel cancer" BROAD [DOID:4907, NCIT:C7724] synonym: "small bowel carcinoma" EXACT [NCIT:C7724] synonym: "small intestinal cancer" BROAD [NCIT:C7724] synonym: "small intestinal carcinoma" EXACT [DOID:4907, NCIT:C7724] synonym: "small intestine cancer" BROAD [NCIT:C7724] synonym: "small intestine cancer, NOS" EXACT [NCIT:C7724] synonym: "small intestine carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "small intestine carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "small intestine carcinoma" EXACT [MONDO:patterns/location] xref: DOID:4907 {source="EFO:0005588", source="MONDO:equivalentTo"} xref: EFO:0005588 {source="MONDO:equivalentTo"} xref: MONDO:0005522 xref: NCIT:C7724 {source="EFO:0005588", source="MONDO:equivalentTo", source="ONCOTREE:SIC", source="DOID:4907"} xref: ONCOTREE:SIC {source="MONDO:equivalentTo"} xref: SCTID:448664009 {source="MONDO:equivalentTo"} is_a: EFO:1000218 {source="MONDO:Redundant", source="NCIT:C7724"} ! Digestive System Carcinoma is_a: MONDO:0000956 {source="DOID:4907", source="MONDO:Redundant", source="NCIT:C7724"} ! small intestine cancer relationship: EFO:0000784 UBERON:0002108 ! has_disease_location small intestine property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0238196 property_value: exactMatch DOID:4907 property_value: exactMatch DOID:4907 property_value: exactMatch http://identifiers.org/snomedct/448664009 property_value: exactMatch http://identifiers.org/snomedct/448664009 property_value: exactMatch NCIT:C7724 property_value: exactMatch NCIT:C7724 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:0005590 name: steroid inherited metabolic disorder def: "A lipid metabolism disorder that involves defects in steroid metabolism." [] def: "Errors in metabolic processing of steroids resulting from inborn genetic mutations that are inherited or acquired in utero." [MESH:D043202] synonym: "steroid inherited metabolic disorder" EXACT [] {comment="preferred label from MONDO"} xref: DOID:1701 {source="MONDO:equivalentTo", source="EFO:0005590"} xref: MESH:D043202 {source="MONDO:equivalentTo", source="DOID:1701"} xref: MONDO:0005523 xref: UMLS:C1257809 {source="MONDO:equivalentTo", source="DOID:1701"} is_a: MONDO:0002525 {source="DOID:1701"} ! inherited lipid metabolism disorder property_value: exactMatch DOID:1701 property_value: exactMatch http://identifiers.org/mesh/D043202 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1257809 [Term] id: EFO:0005591 name: sweat gland carcinoma def: "A carcinoma arising from the sweat glands. Representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma." [EFO:0005591] synonym: "carcinoma of sweat gland" EXACT [MONDO:patterns/carcinoma, NCIT:C6938] synonym: "carcinoma of the sweat gland" EXACT [DOID:5667, NCIT:C6938] synonym: "carcinoma, sweat gland, malignant" EXACT [NCIT:C6938] synonym: "sweat gland carcinoma" EXACT [MONDO:patterns/location, NCIT:C6938] synonym: "sweat gland carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "sweat gland carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "sweat gland carcinoma/apocrine eccrine carcinoma" RELATED [ONCOTREE:AECA] xref: DOID:5667 {source="MONDO:equivalentTo", source="EFO:0005591"} xref: EFO:0005591 {source="MONDO:equivalentTo"} xref: ICDO:8400/3 {source="NCIT:C6938"} xref: MONDO:0005524 xref: NCIT:C6938 {source="DOID:5667", source="MONDO:equivalentTo", source="EFO:0005591", source="MONDO:exact-label-match"} xref: NCIT:C6938 {source="DOID:5667", source="MONDO:equivalentTo", source="EFO:0005591", source="exact-label-match"} xref: ONCOTREE:AECA {source="MONDO:equivalentTo"} xref: UMLS:C1412016 {source="NCIT:C6938", source="DOID:5667", source="MONDO:equivalentTo"} is_a: EFO:0000228 {source="NCIT:C6938"} ! adenocarcinoma is_a: EFO:1001183 {source="MONDO:Redundant", source="NCIT:C6938"} ! skin appendage carcinoma is_a: MONDO:0002206 {source="DOID:5667", source="MONDO:Redundant", source="NCIT:C6938"} ! sweat gland cancer relationship: EFO:0000784 UBERON:0000014 ! has_disease_location zone of skin property_value: closeMatch http://identifiers.org/snomedct/254707006 property_value: closeMatch http://identifiers.org/snomedct/32272007 property_value: exactMatch DOID:5667 property_value: exactMatch DOID:5667 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1412016 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1412016 property_value: exactMatch NCIT:C6938 property_value: exactMatch NCIT:C6938 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:0005592 name: T-cell leukemia def: "A malignant disease of the T-lymphocytes in the bone marrow, thymus, and/or blood." [MESH:D015458] synonym: "leukaemia (disease) of T cell" EXACT OMO:0003005 [] synonym: "leukemia (disease) of T cell" EXACT [] synonym: "T cell leukaemia (disease)" EXACT OMO:0003005 [] synonym: "T cell leukemia (disease)" EXACT [MONDO:patterns/location] synonym: "T-cell leukemia" EXACT [] {comment="preferred label from MONDO"} synonym: "T-cell leukemia" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: DOID:715 {source="MONDO:equivalentObsolete", source="EFO:0005592"} xref: DOID:715 {source="MONDO:equivalentTo", source="EFO:0005592"} xref: EFO:0005592 {source="MONDO:equivalentTo"} xref: MESH:D015458 {source="MONDO:equivalentTo", source="DOID:715", source="EFO:0005592"} xref: MONDO:0005525 xref: NCIT:C8694 {source="MONDO:relatedTo", source="EFO:0005592"} xref: UMLS:C0023492 {source="MONDO:equivalentTo", source="DOID:715"} is_a: EFO:0004289 {source="DOID:715", source="EFO:0005592", source="MESH:D015458"} ! lymphoid leukemia is_a: MONDO:0004805 {source="DOID:715", source="MONDO:Entailed", source="MONDO:Redundant"} ! leukocyte disorder property_value: closeMatch http://identifiers.org/snomedct/703821009 property_value: exactMatch DOID:715 property_value: exactMatch http://identifiers.org/mesh/D015458 property_value: exactMatch http://identifiers.org/mesh/D015458 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023492 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023492 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:0005593 name: tetanus def: "A primary bacterial infectious disease that results_in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli." [] def: "A serious infectious disorder that follows wound contamination by the Gram-positive bacterium Clostridium tetani. The bacteria produce a neurotoxin called tetanospasmin, which causes muscle spasm in the jaw and other anatomic sites." [NCIT:P378] comment: We treat tetanus and infection due to Clostridium tetani as synonymous subset: gard_rare {source="GARD:0005144"} subset: ordo_disease {source="Orphanet:3299"} synonym: "clostridial tetanus" EXACT [DOID:11338] synonym: "Clostridium tetani caused infectious disease of the nervous system" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Clostridium tetani infectious disease of the nervous system" EXACT [] synonym: "infection due to Clostridium tetani" EXACT [DOID:11338] synonym: "lockjaw" RELATED [GARD:0005144] synonym: "tetanus" EXACT [] {comment="preferred label from MONDO"} xref: DOID:11338 {source="MONDO:equivalentTo", source="EFO:0005593"} xref: ICD9:037 {source="DOID:11338", source="EFO:0005593"} xref: MedDRA:10043376 {source="Orphanet:3299", source="Orphanet:3299/e"} xref: MESH:D013742 {source="Orphanet:3299", source="DOID:11338", source="MONDO:equivalentTo", source="Orphanet:3299/e", source="EFO:0005593"} xref: MeSH:D013742 xref: MONDO:0005526 xref: NCIT:C85185 {source="DOID:11338", source="MONDO:equivalentTo", source="EFO:0005593"} xref: NCIt:C85185 xref: Orphanet:3299 {source="MONDO:equivalentTo"} xref: SCTID:276202003 {source="DOID:11338", source="MONDO:equivalentTo"} xref: SCTID:76902006 {source="DOID:11338", source="MONDO:equivalentTo", source="EFO:0005593"} xref: SNOMEDCT:76902006 xref: UMLS:C0039614 {source="Orphanet:3299", source="DOID:11338", source="MONDO:equivalentTo", source="NCIT:C85185", source="Orphanet:3299/e"} is_a: EFO:1000874 ! commensal Clostridium infectious disease is_a: MONDO:0000314 {source="DOID:11338"} ! primary bacterial infectious disease is_a: MONDO:0020010 {source="MONDO:Redundant", source="Orphanet:3299"} ! infectious disorder of the nervous system relationship: RO:0000057 NCBITaxon:1513 ! has_participant Clostridium tetani property_value: closeMatch http://identifiers.org/meddra/10043376 property_value: exactMatch DOID:11338 property_value: exactMatch http://identifiers.org/mesh/D013742 property_value: exactMatch http://identifiers.org/snomedct/276202003 property_value: exactMatch http://identifiers.org/snomedct/76902006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039614 property_value: exactMatch NCIT:C85185 property_value: exactMatch Orphanet:3299 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5144/tetanus xsd:anyURI {source="GARD:0005144"} [Term] id: EFO:0005595 name: toxic encephalopathy def: "A group of neurologic disorders caused by damage to the nervous system following exposure to pharmacologic, biologic, and chemical agents. Examples of neurotoxins include chemotherapy agents, radiation treatment, heavy metals, pesticides, and food additives." [NCIT:P378] def: "Toxic encephalopathy is a degenerative neurologic disorder caused by exposure to toxic substances like organic solvents. Exposure to toxic substances can lead to a variety of symptoms, characterized by an altered mental status, memory loss, and visual problems. Toxic encephalopathy can be caused by various chemicals, some of which are commonly used in everyday life. Toxic encephalopathy can permanently damage the brain and currently, treatment is mainly just for the symptoms." [] synonym: "neurotoxicity" EXACT [DOID:3602, NCIT:C27961] synonym: "neurotoxicity syndrome" EXACT [DOID:3602] synonym: "neurotoxicity syndromes" RELATED [GARD:0007199] synonym: "toxic encephalopathy" EXACT [] {comment="preferred label from MONDO"} xref: DOID:3602 {source="MONDO:equivalentTo", source="EFO:0005595"} xref: ICD10CM:G92 {source="MONDO:equivalentTo"} xref: ICD9:349.82 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0005595"} xref: MedDRA:10044221 xref: MESH:D020258 {source="MONDO:equivalentTo", source="DOID:3602"} xref: MONDO:0005527 xref: NCIT:C27961 {source="MONDO:equivalentTo", source="DOID:3602", source="EFO:0005595"} xref: NCIt:C27961 xref: SCTID:28394000 {source="MONDO:equivalentTo", source="EFO:0005595"} xref: SNOMEDCT:28394000 xref: Wikipedia:Toxic_encephalopathy {source="EFO:0005595"} is_a: EFO:0000546 ! injury is_a: EFO:0000618 {source="DOID:3602", source="EFO:0005595", source="ICD10CM:G92/inferred", source="MESH:D020258", source="NCIT:C27961/inferred"} ! nervous system disease property_value: exactMatch DOID:3602 property_value: exactMatch http://identifiers.org/mesh/D020258 property_value: exactMatch http://identifiers.org/snomedct/28394000 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G92 property_value: exactMatch NCIT:C27961 property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005596 name: vitamin metabolic disorder def: "An inherited metabolic disease that is has its basis in the disruption of vitamin metabolic process." [MONDO:patterns/inborn_metabolic] def: "An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." [] synonym: "inborn error of vitamin metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn vitamin metabolic disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "inborn vitamin metabolic process disorder" EXACT [] synonym: "rare inborn error of vitamin metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "vitamin metabolic disorder" RELATED [DOID:0050718] xref: DOID:0050718 {source="EFO:0005596", source="MONDO:equivalentTo"} xref: MONDO:0005528 is_a: MONDO:0019052 {source="DOID:0050718", source="MONDO:Redundant"} ! inborn errors of metabolism is_a: MONDO:0024298 {source="MONDO:cjm"} ! vitamin deficiency disorder property_value: exactMatch DOID:0050718 [Term] id: EFO:0005597 name: methylmalonic aciduria and homocystinuria type cblG def: "Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.intellectual deficit and seizures." [] xref: DOID:0050733 is_a: EFO:0000508 ! genetic disorder property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005600 name: abdominal aortic fatty streak def: "A fatty streak is the first grossly visible (visible to the naked eye) lesion in the development of atherosclerosis. It appears as an irregular yellow-white discoloration on the luminal surface of an artery. It consists of aggregates of foam cells, which are lipoprotein-loaded macrophages located beneath[ambiguous] the inner, endothelial layer of an artery. Fatty streaks may also include T cells, aggregated platelets, and smooth muscle cells. It is the precursor lesion of atheromas that may become atheromatous plaques" [] synonym: "abdominal aortic fatty streaks" EXACT [] is_a: HP:0001679 ! Abnormal aortic morphology property_value: createdBy "Helen Parkinson" xsd:string property_value: definition:citation http://en.wikipedia.org/wiki/Fatty_streak xsd:string [Term] id: EFO:0005601 name: abdominal aortic raised atherosclerotic lesion def: "An atherosclerotic abnormality of the abdominal aorta used as a container term for fibrous plaques, complicated lesions, and calcified lesions." [] synonym: "abdominal aortic raised lesions" EXACT [] is_a: HP:0001679 ! Abnormal aortic morphology property_value: createdBy "Helen Parkinson" xsd:string property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/1841782 xsd:string property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/22015179 xsd:string [Term] id: EFO:0005602 name: age at alcohol diagnosis comment: The age at which an alcohol diagnosis was made in a human patient is_a: EFO:0004918 ! age at diagnosis property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0005603 name: age at breast cancer diagnosis comment: The age at which a breast cancer diagnosis was made in a human patient is_a: EFO:0004918 ! age at diagnosis property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0005606 name: family history of breast cancer def: "A reported family history of breast cancer in one or more family members." [] synonym: "breast cancer family history" EXACT [] synonym: "family history of breast carcinoma" EXACT [] is_a: EFO:0009640 ! family history of cancer relationship: IAO:0000136 MONDO:0007254 ! is_about breast cancer property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0005607 name: breast cancer stage def: "A staging of breast cancer for example by the American Joint Committee on Cancer, stage 7, or other coding system." [] is_a: EFO:0000410 ! disease staging property_value: dc-creator "Helen Parkinson" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0005608 name: cortical opacity measurement def: "A measure of cortical opacity used in the diagnosis of cataract." [] is_a: EFO:0004731 ! eye measurement relationship: IAO:0000136 MONDO:0005129 ! is_about cataract relationship: IAO:0000136 UBERON:0000970 ! is_about eye property_value: dc-creator "Helen Parkinson" xsd:string [Term] id: EFO:0005611 name: opioid dependence def: "Disorders related or resulting from abuse or mis-use of opioids." [MESH:D009293] def: "Strong dependence, both physiological and emotional, upon opioids, a class of drugs derived from opium or created to emulate opium" [] synonym: "narcotism" RELATED [] synonym: "opiate abuse" EXACT [] synonym: "opiate addiction" EXACT [] synonym: "opiate dependence" EXACT [] {comment="preferred label from MONDO"} synonym: "opioid abuse" EXACT [] synonym: "opioid dependence" EXACT [] synonym: "opioid type dependence" EXACT [DOID:2559, ICD9CM:304.0] synonym: "Opioid-Related Disorders" EXACT [] xref: DOID:2559 {source="EFO:0005611", source="MONDO:equivalentTo"} xref: ICD10:F11 xref: ICD9:304.0 {source="DOID:2559"} xref: ICD9:304.00 {source="DOID:2559"} xref: MESH:D009293 {source="MONDO:equivalentTo", source="DOID:2559"} xref: MeSH:D009293 xref: MONDO:0005530 xref: SCTID:75544000 {source="MONDO:equivalentTo", source="DOID:2559"} is_a: EFO:0003890 {source="DOID:2559", source="EFO:0005611"} ! drug dependence property_value: exactMatch DOID:2559 property_value: exactMatch http://identifiers.org/mesh/D009293 property_value: exactMatch http://identifiers.org/snomedct/75544000 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Gautier Koscielny" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0005612 name: morphine dependence def: "Strong dependence, both physiological and emotional, upon morphine." [MESH:D009021] synonym: "morphine abuse" EXACT [] synonym: "morphine addiction" EXACT [] synonym: "morphine dependence" EXACT [] {comment="preferred label from MONDO"} xref: DOID:2560 {source="EFO:0005612", source="MONDO:equivalentTo"} xref: MESH:D009021 {source="DOID:2560", source="EFO:0005612", source="MONDO:equivalentTo"} xref: MeSH:D009021 xref: MONDO:0005531 xref: SCTID:231479000 {source="DOID:2560", source="EFO:0005612", source="MONDO:equivalentTo"} xref: SNOMEDCT:231479000 is_a: EFO:0005611 {source="DOID:2560", source="EFO:0005612", source="MESH:D009021"} ! opioid dependence property_value: exactMatch DOID:2560 property_value: exactMatch http://identifiers.org/mesh/D009021 property_value: exactMatch http://identifiers.org/snomedct/231479000 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005615 name: prostate cancer staging def: "A classification of prostate cancer stage e.g. Gleason grade finding" [] synonym: "prostate cancer stage" EXACT [] is_a: EFO:0000410 ! disease staging property_value: dc-creator "Helen Parkinson" xsd:string [Term] id: EFO:0005616 name: coronary artery raised atherosclerotic lesion def: "An atherosclerotic abnormality of the coronary artery used as a container term for fibrous plaques, complicated lesions, and calcified lesions." [] def: "coronary artery raised lesion" [] synonym: "coronary artery raised lesions" EXACT [] is_a: HP:0001626 ! Abnormality of the cardiovascular system property_value: dc-creator "Helen Parkinson" xsd:string [Term] id: EFO:0005617 name: thoracic aortic fatty streak def: "A fatty streak is the first grossly visible (visible to the naked eye) lesion in the development of atherosclerosis. It appears as an irregular yellow-white discoloration on the luminal surface of an artery. It consists of aggregates of foam cells, which are lipoprotein-loaded macrophages located beneath[ambiguous] the inner, endothelial layer of an artery. Fatty streaks may also include T cells, aggregated platelets, and smooth muscle cells. It is the precursor lesion of atheromas that may become atheromatous plaques" [] synonym: "thoracic aorta fatty streaks" EXACT [] synonym: "thoracic aortic fatty streaks" EXACT [] is_a: HP:0001679 ! Abnormal aortic morphology property_value: createdBy "Helen Parkinson" xsd:string property_value: definition:citation http://en.wikipedia.org/wiki/Fatty_streak xsd:string [Term] id: EFO:0005618 name: thoracic aortic raised atherosclerotic lesion def: "An atherosclerotic abnormality of the thoracic aorta used as a container term for fibrous plaques, complicated lesions, and calcified lesions." [] synonym: "thoracic aortic raised lesions" EXACT [] is_a: HP:0001679 ! Abnormal aortic morphology property_value: createdBy "Helen Parkinson" xsd:string property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/1841782 xsd:string property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/22015179 xsd:string [Term] id: EFO:0005620 name: lung adenocarcinoma grade is_a: OBI:0600002 ! tumor grading [Term] id: EFO:0005622 name: Crohn's colitis def: "Crohn's colitis is a type of Crohn's disease that affects the large intestine." [] def: "Crohn's disease affecting the colon." [NCIT:C35211] synonym: "Crohn colitis" EXACT [NCIT:C35211] synonym: "Crohn's colitis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0060192 {source="EFO:0005622", source="MONDO:equivalentTo"} xref: ICD9:555.1 {source="DOID:0060192"} xref: MedDRA:10011400 xref: MONDO:0005532 xref: NCIT:C35211 {source="MONDO:equivalentTo", source="DOID:0060192"} is_a: EFO:0000384 {source="DOID:0060192", source="EFO:0005622", source="NCIT:C35211"} ! Crohn's disease is_a: MONDO:0024634 ! large intestine disorder relationship: EFO:0000784 UBERON:0000059 ! has_disease_location large intestine property_value: exactMatch DOID:0060192 property_value: exactMatch NCIT:C35211 [Term] id: EFO:0005623 name: distal colitis def: "Particular variety of ulcerative colitis where only the left half of the colon is inflamed." [EFO:0005623] synonym: "distal colitis" EXACT [] {comment="preferred label from MONDO"} synonym: "inflammation of left colon" EXACT [] synonym: "left colon inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: ICD9:558.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10013473 xref: MONDO:0005533 xref: SCTID:373639002 {source="EFO:0005623", source="MONDO:equivalentTo"} xref: SNOMEDCT:373639002 xref: UMLS:C0860168 {source="MONDO:equivalentTo"} is_a: EFO:0000729 {source="EFO:0005623"} ! ulcerative colitis property_value: exactMatch http://identifiers.org/snomedct/373639002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0860168 property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005624 name: ileocolitis def: "Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon." [EFO:0005624] def: "Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon. " [] synonym: "ileal crohn's" EXACT [] synonym: "ileocolic Crohn's" EXACT [] synonym: "ileocolitis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0060190 {source="MONDO:equivalentTo", source="EFO:0005624"} xref: MedDRA:10062647 {source="DOID:0060190"} xref: MONDO:0005534 xref: UMLS:C0949272 {source="MONDO:equivalentTo"} is_a: EFO:0003872 ! colitis is_a: MONDO:0000709 ! Crohn ileitis relationship: EFO:0000784 UBERON:0001155 ! has_disease_location colon relationship: EFO:0000784 UBERON:0002116 ! has_disease_location ileum property_value: closeMatch http://identifiers.org/meddra/10062647 property_value: exactMatch DOID:0060190 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0949272 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0005625 name: oral Crohn's disease def: "Crohn's disease affecting the mouth." [EFO:0005625] synonym: "oral Crohn disease" EXACT [] {comment="preferred label from MONDO"} synonym: "oral Crohn's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] xref: MONDO:0005535 xref: SCTID:196578009 {source="MONDO:equivalentTo"} xref: UMLS:C0399497 {source="MONDO:equivalentTo"} is_a: EFO:0000384 {source="EFO:0005625"} ! Crohn's disease is_a: EFO:1001047 ! mouth disease relationship: EFO:0000784 UBERON:0000165 ! has_disease_location mouth property_value: exactMatch http://identifiers.org/snomedct/196578009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0399497 [Term] id: EFO:0005626 name: pancolitis def: "Pancolitis is a severe form of ulcerative colitis." [] def: "Ulcerative colitis that involves the entire colon." [https://www.medicinenet.com/script/main/art.asp?articlekey=7366] synonym: "pan-ulcerative colitis" EXACT [https://www.medicinenet.com/script/main/art.asp?articlekey=7366] synonym: "pancolitis" EXACT [] {comment="preferred label from MONDO"} synonym: "universal colitis" EXACT [https://www.medicinenet.com/script/main/art.asp?articlekey=7366] xref: MedDRA:10033573 xref: MONDO:0005536 is_a: EFO:0000729 {source="EFO:0005626"} ! ulcerative colitis [Term] id: EFO:0005627 name: perianal Crohn's disease def: "An Crohn disease involving a pathogenic inflammatory response in the anal canal." [MONDO:patterns/specific_inflammatory_disease_by_site] def: "Perianal Crohn's disease is a type of Crohn's disease affecting the anus." [] synonym: "perianal Crohn disease" EXACT [] {comment="preferred label from MONDO"} synonym: "perianal Crohn's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] xref: MONDO:0005537 xref: SCTID:235796008 {source="MONDO:equivalentTo", source="EFO:0005627"} xref: SNOMEDCT:235796008 xref: UMLS:C0341395 {source="MONDO:equivalentTo"} is_a: EFO:0000384 {source="EFO:0005627", source="MONDO:Entailed", source="MONDO:Redundant"} ! Crohn's disease is_a: EFO:1001463 ! gastroenteritis is_a: MONDO:0024634 ! large intestine disorder relationship: EFO:0000784 UBERON:0001353 ! has_disease_location anal region property_value: exactMatch http://identifiers.org/snomedct/235796008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341395 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0005628 name: proctitis def: "An inflammatory process affecting the anus. It is usually caused by sexually transmitted infectious agents and/or inflammatory bowel disease." [NCIT:P378] def: "Proctitis is an inflammation of the rectum." [] synonym: "anus inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "inflammation of anus" EXACT [] synonym: "proctitis" EXACT [] {comment="preferred label from MONDO"} synonym: "rectitis" EXACT [NCIT:C38011] xref: DOID:3127 {source="MONDO:equivalentTo", source="EFO:0005628"} xref: ICD9:569.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10036774 xref: MESH:D011349 {source="MONDO:equivalentTo", source="DOID:3127", source="EFO:0005628"} xref: MeSH:D011349 xref: MONDO:0005538 xref: NCIT:C38011 {source="MONDO:equivalentTo", source="DOID:3127", source="EFO:0005628"} xref: NCIt:C38011 xref: SCTID:3951002 {source="MONDO:equivalentTo", source="DOID:3127", source="EFO:0005628"} xref: SNOMEDCT:3951002 xref: UMLS:C0033246 {source="NCIT:C38011", source="MONDO:equivalentTo", source="DOID:3127"} is_a: EFO:0003767 {source="EFO:0005628"} ! inflammatory bowel disease is_a: EFO:0009660 {source="MONDO:Redundant", source="NCIT:C38011/inferred"} ! anus disease is_a: EFO:0009903 {source="MONDO:Redundant"} ! inflammatory disease relationship: EFO:0000784 UBERON:0001052 ! has_disease_location rectum property_value: exactMatch DOID:3127 property_value: exactMatch http://identifiers.org/mesh/D011349 property_value: exactMatch http://identifiers.org/snomedct/3951002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033246 property_value: exactMatch NCIT:C38011 [Term] id: EFO:0005629 name: small bowel Crohn's disease def: "An Crohn disease involving a pathogenic inflammatory response in the small intestine." [MONDO:patterns/specific_inflammatory_disease_by_site] def: "Small bowel Crohn's disease is a chronic inflammatory bowel disease affecting the small instestine." [] synonym: "small bowel Crohn disease" EXACT [] {comment="preferred label from MONDO"} synonym: "small bowel Crohn's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] xref: MONDO:0005539 is_a: EFO:0000384 {source="EFO:0005629", source="MONDO:Entailed", source="MONDO:Redundant"} ! Crohn's disease is_a: MONDO:0043579 ! enteritis relationship: EFO:0000784 UBERON:0002108 ! has_disease_location small intestine [Term] id: EFO:0005630 name: CEL data file format def: "CEL data file format describes the format used in a CEL file for storing the results of the intensity calculations on the pixel values of a DAT file. This includes an intensity value, standard deviation of the intensity, the number of pixels used to calculate the intensity value, a flag to indicate an outlier as calculated by the algorithm and a user defined flag indicating the feature should be excluded from future analysis. The file stores the previously stated data for each feature on the probe array." [] is_a: IAO:0000098 ! data format specification property_value: definition:citation http://media.affymetrix.com/support/developer/powertools/changelog/gcos-agcc/cel.html xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0005631 name: rectal adenocarcinoma def: "An adenocarcinoma arising from the rectum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectal adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." [NCIT:C9383] synonym: "adenocarcinoma - rectum" EXACT [NCIT:C9383] synonym: "adenocarcinoma of rectum" EXACT [DOID:1996, NCIT:C9383] synonym: "adenocarcinoma of the rectum" EXACT [NCIT:C9383] synonym: "read" RELATED [ONCOTREE:READ] synonym: "rectal adenocarcinoma" EXACT [DOID:1996, MONDO:0005540, NCIT:C9383] synonym: "rectum adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "rectum adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "rectum adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:1996 {source="MONDO:equivalentTo"} xref: EFO:0005631 {source="MONDO:equivalentTo"} xref: MONDO:0002169 xref: NCIT:C9383 {source="EFO:0005631", source="MONDO:equivalentTo", source="DOID:1996"} xref: ONCOTREE:READ {source="MONDO:equivalentTo"} xref: SCTID:254582000 {source="EFO:0005631", source="MONDO:equivalentTo", source="DOID:1996"} xref: UMLS:C0149978 {source="MONDO:equivalentTo", source="DOID:1996", source="NCIT:C9383"} is_a: EFO:0000365 {source="DOID:1996", source="MONDO:Redundant", source="NCIT:C9383", source="ONCOTREE:READ"} ! colorectal adenocarcinoma is_a: MONDO:0044937 ! rectal carcinoma relationship: EFO:0000784 UBERON:0001052 ! has_disease_location rectum property_value: exactMatch DOID:1996 property_value: exactMatch DOID:1996 property_value: exactMatch http://identifiers.org/snomedct/254582000 property_value: exactMatch http://identifiers.org/snomedct/254582000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149978 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149978 property_value: exactMatch NCIT:C9383 property_value: exactMatch NCIT:C9383 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/adenocarcinoma.yaml [Term] id: EFO:0005632 name: intestinal necrosis def: "The presence of necrosis affecting the intestine." [] xref: MedDRA:10022686 is_a: HP:0011024 ! Abnormality of the gastrointestinal tract [Term] id: EFO:0005633 name: ATC Code A Alimentary tract and metabolism def: "Classification of drugs affecting the alimentary tract and metabolism." [] comment: A ALIMENTARY TRACT AND METABOLISM\n\nA01 STOMATOLOGICAL PREPARATIONS\nA02 DRUGS FOR ACID RELATED DISORDERS\nA03 DRUGS FOR FUNCTIONAL GASTROINTESTINAL DISORDERS\n\nA major part of the preparations in this group are combined preparations. Preparations containing e.g. analgesics and antispasmodics could be classified either in this group or in N02 - Analgesics. Combinations of psycholeptics and antispasmodics could be classified in A03 or in N05 - Psycholeptics etc. The main indication for the use of the combination will, together with the relative effect of the active components, decide the classification. In the treatment of pain caused by spasms, the spasmolytic component must be judged as more important than the analgesic component. Accordingly, analgesic/antispasmodic combinations should be classified in A03 if the main effect of the preparation is the antispasmodic action.\nCombined preparations are classified in:\n\nA03C - Antispasmodics in combination with psycholeptics\nA03D - Antispasmodics in combination with analgesics\nA03E - Antispasmodics and anticholinergics in combination with other drugs\n\nAntispasmodics, which are used specifically in the urogenital tractus, are classified in G04BD - Drugs for urinary frequency and incontinence.\n\nThe DDD is equal for different routes of administration (oral, parenteral or rectal) of the same compound and is based on the oral dose.\n\nA04 ANTIEMETICS AND ANTINAUSEANTS\nA05 BILE AND LIVER THERAPY\nA06 DRUGS FOR CONSTIPATION\nA07 ANTIDIARRHEALS, INTESTINAL ANTIINFLAMMATORY/ANTIINFECTIVE AGENTS\nA08 ANTIOBESITY PREPARATIONS, EXCL. DIET PRODUCTS\nA09 DIGESTIVES, INCL. ENZYMES\nA10 DRUGS USED IN DIABETES\nA11 VITAMINS\n\nVitamins constitute a comprehensive group of therapeutic and prophylactic preparations. Before classifying any product it is important to be familiar with the main subdivision of the group.\n\nIt may be necessary to consider whether a product is a vitamin preparation with iron or an iron preparation with vitamins, a mineral preparation with vitamins or a vitamin preparation with minerals, or if the product should be regarded as a tonic etc. As an aid to such considerations, guidelines are given at each sublevel.\nVitamin B12 is classified in B03 - Antianemic preparations.\nVitamin K is classified in B02 - Antihemorrhagics.\n\nVitamins administered as i.v. solution additives, see B05XC.\n\nSome definitions:\n\nMultivitamins: Products containing minimum vitamins A, B, C and D. One B-vitamin is sufficient.\n\nB-complex: Products containing minimum thiamine, riboflavine, pyridoxine, nicotinamide. The products may contain other B-vitamins.\n\nA12 MINERAL SUPPLEMENTS\n\nThis group contains mineral supplements used for treatment of mineral deficiency. Magnesium carbonate used for treatment of mineral deficiency is classified in A02AA01.\n\nA13 TONICS\nA14 ANABOLIC AGENTS FOR SYSTEMIC USE\nA15 APPETITE STIMULANTS\n\nThis group comprises preparations only used as appetite stimulants.\nA number of drugs with other main actions may have appetite stimulating properties.\n\nCyproheptadine, also used as an appetite stimulant in children, is classified in R06AX. Pizotifen is classified in N02CX.\n\nNo DDDs are established in this group.\n\nA16 OTHER ALIMENTARY TRACT AND METABOLISM PRODUCTS xref: ATC_code:A is_a: EFO:0005634 ! ATC Classification System relationship: IAO:0000136 GO:0008152 ! is_about metabolic process property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0005634 name: ATC Classification System def: "The Anatomical Therapeutic Chemical (ATC) Classification System is used for the classification of active ingredients of drugs according to the organ or system on which they act and their therapeutic, pharmacological and chemical properties. It is controlled by the World Health Organization Collaborating Centre for Drug Statistics Methodology (WHOCC), and was first published in 1976." [] comment: In the Anatomical Therapeutic Chemical (ATC) classification system, the active substances are divided into different groups according to the organ or system on which they act and their therapeutic, pharmacological and chemical properties. Drugs are classified in groups at five different levels. The drugs are divided into fourteen main groups (1st level), with pharmacological/therapeutic subgroups (2nd level). The 3rd and 4th levels are chemical/pharmacological/therapeutic subgroups and the 5th level is the chemical substance. The 2nd, 3rd and 4th levels are often used to identify pharmacological subgroups when that is considered more appropriate than therapeutic or chemical subgroups. synonym: "Anatomical Therapeutic Chemical Classification System" EXACT [] is_a: IAO:0000030 ! information entity property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0005635 name: ATC Code B Blood and blood forming organs def: "Classification of drugs affecting the blood and blood forming organs of the body." [] comment: B BLOOD AND BLOOD FORMING ORGANS\n\nB01 ANTITHROMBOTIC AGENTS\nB02 ANTIHEMORRHAGICS\nB03 ANTIANEMIC PREPARATIONS\nB05 BLOOD SUBSTITUTES AND PERFUSION SOLUTIONS\n\nSee also:\n\nV07AB - Solvents and diluting agents, incl. irrigating solutions\nV07AC - Blood transfusion, auxiliary products\n\nNo DDDs are established in this group. It is considered difficult to establish DDDs, because of the great variations in dosages given.\n\nB06 OTHER HEMATOLOGICAL AGENTS\n\nNo DDDs are established in this group. xref: ATC_code:B is_a: EFO:0005634 ! ATC Classification System relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0005636 name: ATC Code C Cardiovascular system def: "Classification of drugs affecting the cardiovascular system." [] comment: C CARDIOVASCULAR SYSTEM\n\nC01 CARDIAC THERAPY\nC02 ANTIHYPERTENSIVES\n\nSee also C03 - Diuretics, C07 - Beta blocking agents, C08 - Calcium channel blockers and C09 - Agents acting on the renin-angiotensin system.\n\nAntihypertensives are mainly classified at 3rd levels according to the mechanism of action. Most headings are self-explanatory:\n\nC02A Antiadrenergic agents, centrally acting\nC02B Antiadrenergic agents, ganglion-blocking\nC02C Antiadrenergic agents, peripherally acting\nC02D Arteriolar smooth muscle, agents acting on\nC02K Other antihypertensives\nC02L Antihypertensives and diuretics in combination\nC02N Combinations of antihypertensives in ATC gr. C02\n\nThe oral DDDs are based on the average doses needed to reduce the blood pressure to a normal level in patients with mild-moderate hypertension.\n\nParenteral DDDs are based on dosages used for the treatment of hypertensive crises and are based on the content of the active ingredient pr. vial (ampoule).\n\nC03 DIURETICS\n\nThis group comprises diuretics, plain and in combination with potassium or other agents. Vasopressin antagonists are also included in this group. Potassium-sparing agents are classified in C03D and C03E.\n\nCombinations with digitalis glycosides, see C01AA.\n\nCombinations with antihypertensives, see C02L - Antihypertensives and diuretics in combination.\n\nCombinations with beta blocking agents, see C07B - C07D.\n\nCombinations with calcium channel blockers, see C08.\n\nCombinations with agents acting on the renin angiotensin system, see C09B and C09D.\n\n\nThe DDDs for diuretics are based on monotherapy. Most diuretics are used both for the treatment of edema and hypertension in similar doses and the DDDs are therefore based on both indications.\n\nThe DDDs for combinations correspond to the DDD for the diuretic component, except for ATC group C03E, see comments under this level.\n\nC04 PERIPHERAL VASODILATORS\nC05 VASOPROTECTIVES\n\nNo DDDs are established in this group, since most of the drugs in this group are for topical use.\n\nC07 BETA BLOCKING AGENTS\nC08 CALCIUM CHANNEL BLOCKERS\n\nThe calcium channel blockers are classified according to selectivity of calcium channel activity and direct cardiac effects. The ATC 4th levels are subdivided according to chemical structure.\n\nCombinations with ergot alkaloids (C04AE) are classified in this group by using the 50-series.\n\nCombinations with diuretics are classified in C08G.\n\nCombinations with ACE inhibitors are classified in C09BB.\n\nCombinations with beta blocking agents are classified in C07F.\n\nThe DDDs for calcium channel blockers are based on the treatment of mild-moderate hypertension, although some are used for other indications (e.g. angina pectoris).\n\nThe DDDs for oral and parenteral preparations are equal and are based on the oral dose, since oral preparations represent the major fraction of the total consumption.\n\nC09 AGENTS ACTING ON THE RENIN-ANGIOTENSIN SYSTEM\n\nThe DDDs are based on the treatment of mild-moderate hypertension.\n\nSee comments to C02L concerning the principles for assignment of DDDs for combined preparations.\n\nC10 LIPID MODIFYING AGENTS\n\nThe DDDs are based on the treatment of hypercholesterolemia. xref: ATC_code:C is_a: EFO:0005634 ! ATC Classification System relationship: IAO:0000136 UBERON:0004535 ! is_about cardiovascular system property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0005637 name: ATC Code D Dermatologicals def: "Classification of drugs affecting skin, hair and nails." [] comment: D DERMATOLOGICALS\n\nMost of the drugs in this group are preparations for topical use. Some few preparations for systemic use with clear dermatological applications, e.g. griseofulvin (antimycotic), retinoids (for treatment of acne) and psoralens and retinoids (for treatment of psoriasis) are classified in this group.\n\nOnly oral preparations in ATC group D are given DDDs. Most products in this group are for topical use, and no DDDs are assigned because the amount given per day can vary very much according to the intensity and distribution of the disease. Consumption figures for these dermatological preparations can be expressed in grams of preparations regardless of strength.\n\n\nD01 ANTIFUNGALS FOR DERMATOLOGICAL USE\n\nThis group comprises preparations for topical and systemic treatment of dermatological mycoses. Preparations with systemic antimycotic effect, see also J02A - Antimycotics for systemic use.\n\nTopical preparations used especially in gynecological infections are classified in G01A - Antiinfectives and antiseptics, excl. combinations with corticosteroids or G01B - Antiinfectives/antiseptics in combination with corticosteroids. Preparations for local treatment of fungal infections in the mouth, see A01AB - Antiinfectives and antiseptics for local oral treatment.\n\nD02 EMOLLIENTS AND PROTECTIVES\nD03 PREPARATIONS FOR TREATMENT OF WOUNDS AND ULCERS\n\nTopical preparations used in the treatment of wounds and ulcers, e.g. leg ulcers, are classified in this group. Protective ointments are classified in D02A - Emollients and protectives.\n\nSee also\nD06 - Antibiotic and chemotherapeutics for dermatological use.\nD08 - Antiseptics and disinfectants.\nD09 - Medicated dressings.\n\nD04 ANTIPRURITICS, INCL. ANTIHISTAMINES, ANESTHETICS, ETC.\nD05 ANTIPSORIATICS\nD06 ANTIBIOTICS AND CHEMOTHERAPEUTICS FOR DERMATOLOGICAL USE\n\nThis group comprises products for topical use in skin infections etc.\n\nD07 CORTICOSTEROIDS, DERMATOLOGICAL PREPARATIONS\n\nAs a main rule, all topical corticosteroid preparations should be classified in this group. There are, however, some few exceptions:\n\nCombinations of corticosteroids and antiinfectives for gynaecological use, see G01B.\n\nCorticosteroids for local oral treatment, see A01AC.\n\nAnti-acne preparations, see D10A.\n\nAntihemorrhoidals with corticosteroids, see C05AA.\n\nCorticosteroids for ophthalmological or otological use, see S - Sensory organs.\n\nD08 ANTISEPTICS AND DISINFECTANTS\nD09 MEDICATED DRESSINGS\nD10 ANTI-ACNE PREPARATIONS\n\nThe DDDs are based on the treatment of severe acne.\n\nD11 OTHER DERMATOLOGICAL PREPARATIONS xref: ATC_code:D is_a: EFO:0005634 ! ATC Classification System relationship: IAO:0000136 UBERON:0000014 ! is_about zone of skin relationship: IAO:0000136 UBERON:0001037 ! is_about strand of hair relationship: IAO:0000136 UBERON:0001705 ! is_about nail property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0005638 name: ATC Code G Genito-urinary system and sex hormones def: "Classification of drugs affecting the genito-urinary system and sex hormones." [] comment: G GENITO URINARY SYSTEM AND SEX HORMONES\n\nG01 GYNECOLOGICAL ANTIINFECTIVES AND ANTISEPTICS\n\nThis group comprises gynecological antiinfectives and antiseptics mainly for local use. See also:\n\nJ - Antiinfectives for systemic use\nD06 - Antibiotics and chemotherapeutics for dermatological use\nP01AB - Nitroimidazole derivatives\n\nThe DDDs are based on the treatment of vaginal infections.\n\nG02 OTHER GYNECOLOGICALS\n\nAnalgesics used in dysmenorrhea, see N02B - Other analgesics and antipyretics and M01A - Antiinflammatory and antirheumatic products, non-steroids.\n\nG03 SEX HORMONES AND MODULATORS OF THE GENITAL SYSTEM\n\nOther hormones, see H - Systemic hormonal preparations, excl. sex hormones and insulins.\n\nSex hormones used only in the treatment of cancer (often selected strengths) are classified in L - Antineoplastic and immunomodulating agents.\n\nThe DDDs of many of the hormone preparations may vary considerably with the route of administration due to substantial differences in bioavailability. The DDDs of depot preparations are calculated as the dose divided by the dosing interval.\n\nG04 UROLOGICALS\n\nAntiseptic and antiinfective preparations for systemic use specifically used in urinary tract infections, see J01.\n\nAntiinfectives for systemic use, see group J.\n\nGynecological antiinfectives and antiseptics, see G01. xref: ATC_code:G is_a: EFO:0005634 ! ATC Classification System relationship: IAO:0000136 CHEBI:50112 ! is_about sex hormone relationship: IAO:0000136 UBERON:0004122 ! is_about genitourinary system property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0005639 name: ATC Code H Systemic hormonal preparations, excluding sex hormones and insulins def: "Classification of drugs affecting hormones expect for sexual hormones and insulin." [] comment: H SYSTEMIC HORMONAL PREPARATIONS, EXCL. SEX HORMONES AND INSULINS\n\nThis group comprises all hormonal preparations for systemic use, except:\n\n- Insulins, see A10.\n- Anabolic steroids, see A14.\n- Catecholamines, see C01C and R03C.\n- Sex hormones, see G03.\n- Sex hormones used in treatment of neoplastic diseases, see L02.\n\nThe DDDs are generally based on the treatment or diagnosis of endocrine disorders.\n\n\nH01 PITUITARY AND HYPOTHALAMIC HORMONES AND ANALOGUES\nH02 CORTICOSTEROIDS FOR SYSTEMIC USE\n\nAs a main rule, systemic corticosteroids should be classified in this group. There is, however, one exception: M01BA - Antiinflam-matory/antirheumatic agents in combination with corticosteroids.\n\nCorticosteroids for local oral treatment, see A01AC.\n\nEnemas and rectal foams for local treatment of e.g. ulcerative colitis, see A07E.\n\nCorticosteroids for topical use, see D07.\n\nCombined corticosteroid preparations for local treatment of acne, see D10AA.\n\nCorticosteroids in combination with antiinfectives/antiseptics for local treatment of gynecological infections, see G01B.\n\nCorticosteroids for nasal use, see R01AD.\nCorticosteroids for inhalation, see R03BA.\n\nCorticosteroids, eye/ear preparations, see S.\n\nH03 THYROID THERAPY\nH04 PANCREATIC HORMONES\nH05 CALCIUM HOMEOSTASIS\n\nDrugs acting on calcium homeostasis are classified in this group.\n\nVitamin-D preparations, see A11CC. xref: ATC_code:H is_a: EFO:0005634 ! ATC Classification System property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0005640 name: ATC Code J Antiinfectives for systemic use def: "Classification of drugs which are anti inefctive agents." [] comment: J ANTIINFECTIVES FOR SYSTEMIC USE\n\nAntiinfectives are also classified in the following groups:\n\nA01AB Antiinfectives and antiseptics for local oral treatment\nA02BD Combinations for eradication of Helicobacter pylori\nA07A Intestinal antiinfectives\nD01 Antifungals for dermatological use\nD06 Antibiotics and chemotherapeutics for dermatological use\nD07C Corticosteroids, combinations with antibiotics\nD09AA Ointment dressings with antiinfectives\nD10AF Antiinfectives for treatment of acne\nG01 Gynecological antiinfectives and antiseptics\nP Antiparasitic products, insecticides and repellents\nR02AB Antibiotics\nR05X Other cold preparations\nS01/\nS02/\nS03 Eye and ear preparations with antiinfectives\n\nEven systemically administered antibacterials and antimycotics may be classified in other groups if their target is exclusively local, e.g. the skin - D01 - Antifungals for dermatological use\n\nInhaled antiinfectives are classified in J.\n\nThe DDDs for the antiinfectives are as a main rule based on the use in infections of moderate severity. However, some antiinfectives are only used in severe infections and their DDDs are assigned accordingly. The DDDs assigned are based on daily treatment. The duration of the treatment periods is not taken into consideration. For antiinfectives given in a high initially starting dose followed by a lower daily "maintenance" dose, the DDDs are based on the "maintenance" dose if the total duration of the treat-ment course is more than one week. If, however, the treatment course is 7 days or less, the DDDs are assigned according to the average daily dose i.e. the total course dose divided by the number of treatment days (e.g azithromycin).\n\n\nJ01 ANTIBACTERIALS FOR SYSTEMIC USE\n\nThis group comprises antibacterials for systemic use, except antimycobacterials, which are classified in J04. The antibacterials are classified according to their mode of action and chemistry.\n\nCombinations of two or more systemic antibacterials from different third levels are classified in J01R, except combinations of sulfonamides and trimethoprim, which are classified at a separate 4th level, J01EE.\n\nCombinations of antibacterials with other drugs, including local anesthetics or vitamins, are classified at separate 5th levels in the respective antibacterial group by using the 50-series. Common cold preparations containing minimal amounts of antibacterials are classified in R05X.\n\nInhaled antiinfectives are classified here based on the fact that preparations for inhalation can not be separated from preparations for injection.\n\nJ02 ANTIMYCOTICS FOR SYSTEMIC USE\nJ04 ANTIMYCOBACTERIALS\n\nThis group comprises drugs mainly used for the treatment of tuberculosis or lepra. However, streptomycins are classified in J01G - Aminoglycoside antibacterials. Streptomycin in combination with antimycobacterials are classified in J04AM.\n\nJ05 ANTIVIRALS FOR SYSTEMIC USE\n\nThis group comprises specific antiviral agents, excl. vaccines.\n\nAntivirals for dermatological use, see D06BB.\nAntivirals for ophthalmological use, see S01A - Antiinfectives.\n\nAmantadine, which is also used as an antiviral agent, is classified in N04BB.\n\nJ06 IMMUNE SERA AND IMMUNOGLOBULINS\n\nNo DDDs have been assigned, except for nebacumab in J06BC01.\n\nJ07 VACCINES\n\nThe vaccines are divided in bacterial, viral and combinations of bacterial and viral at separate ATC 3rd levels. Subdivision at the 4th level is made mainly according to indication, while subdivision at the 5th level is mainly related to the manufacturing process. Combinations of vaccines within the same 3rd level are given separate 5th levels using the 50-series. 5th levels may contain adjuvans.\n\nSee comments under the 4th levels.\n\nNo DDDs have been assigned. xref: ATC_code:J is_a: EFO:0005634 ! ATC Classification System property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0005641 name: ATC Code L Antineoplastic and immunomodulating agents def: "Classification of drugs comprising preparations used in the treatment of malignant neoplastic diseases, and immunomodulating agents." [] comment: L ANTINEOPLASTIC AND IMMUNOMODULATING AGENTS\n\nThis group comprises preparations used in the treatment of malignant neoplastic diseases, and immunomodulating agents.\n\nCorticosteroids for systemic use, see H02.\n\nL01 ANTINEOPLASTIC AGENTS\n\nCombination products are classified in L01XY - Combinations of antineoplastic agents.\n\nDetoxifying agents used in connection with high dose treatment of antineoplastic agents are classified in V03AF (e.g. calcium folinate)\n\nNo DDDs have been established because of highly individualised use and wide dosage ranges. The doses used vary substantially because of various types and severity of neoplastic diseases, and also because of the extensive use of combination therapy.\n\nThe consumption of the antineoplastic agents is in some countries measured in grams. This is recommended as a method to be used internationally for these particular agents.\n\nL02 ENDOCRINE THERAPY\n\nEstrogens and progestogens used specifically in the treatment of neoplastic diseases are classified in this group. This means that some strengths may be classified in this group, while remaining strengths are classified in G03 - Sex hormones and modulators of the genital system.\n\nThe DDDs are based on the treatment of cancer (breast-, endometrial, and prostatic).\n\nL03 IMMUNOSTIMULANTS\n\nImmunosuppressants, see L04A.\n\nL04 IMMUNOSUPPRESSANTS\n\nImmunosuppressants are defined as agents that completely or partly suppress one or more factors in the immunosystem. xref: ATC_code:L is_a: EFO:0005634 ! ATC Classification System property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0005642 name: ATC Code M Musculo-skeletal system def: "Classification of drugs affecting musculo-sketal system." [] comment: M MUSCULO-SKELETAL SYSTEM\n\nM01 ANTIINFLAMMATORY AND ANTIRHEUMATIC PRODUCTS\nM02 TOPICAL PRODUCTS FOR JOINT AND MUSCULAR PAIN\nM03 MUSCLE RELAXANTS\n\nThis group comprises peripherally, centrally and directly acting muscle relaxants.\n\nSee also G04BD - Drugs for urinary frequency and incontinence.\n\nM04 ANTIGOUT PREPARATIONS\nM05 DRUGS FOR TREATMENT OF BONE DISEASES\n\nDrugs used for the treatment of bone diseases, see also:\n\nA11CC - Vitamin D and analogues\nA12A - Calcium\nA12AX - Calcium, combinations with vitamin D and/or other drugs\nA12CD - Fluoride\nG03C/G03F - Estrogens/Progestogens and estrogens in combination\nH05BA - Calcitonins\n\nM09 OTHER DRUGS FOR DISORDERS OF THE MUSCULO-SKELETAL SYSTEM xref: ATC_code:M is_a: EFO:0005634 ! ATC Classification System relationship: IAO:0000136 UBERON:0000383 ! is_about musculature of body property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0005643 name: ATC Code N Nervous system def: "Classification of drugs affecting the nervous system such as anesthetics." [] comment: N NERVOUS SYSTEM\n\nN01 ANESTHETICS\n\nNo DDDs have been established in this group because the doses used vary substantially.\n\nN02 ANALGESICS\n\nThis group comprises general analgesics and antipyretics.\n\nAll salicylic acid derivatives except combinations with corticosteroids are classified in N02BA - Salicylic acid and derivatives, as it is difficult to differentiate between the use of salicylates in rheumatic conditions and other therapeutic uses of salicylates.\n\nAll plain ibuprofen preparations are classified in M01A, even if they are only intended for use as pain relief.\n\nSalicylic acid derivatives in combination with corticosteroids are classified in M01B.\n\nThere are a number of combined preparations, which contain analgesics and psycholeptics. These are classified in N02, as pain relief must be regarded as the main indication. Analgesics used for specific indications are classified in the respective ATC groups. E.g.:\n\nA03D/\nA03EA - Antispasmodic/psycholeptics/analgesic combinations\nM01 - Antiinflammatory and antirheumatic products\nM02A - Topical products for joint and muscular pain\nM03 - Muscle relaxants\n\nSee comments to these groups.\n\nLidocaine indicated for postherpetic pain is classified in N01BB.\n\nN03 ANTIEPILEPTICS\nN04 ANTI-PARKINSON DRUGS\n\nThis group comprises preparations used in the treatment of Parkinson's disease and related conditions, including drug-induced parkinsonism.\n\nThe DDDs are based on recommended doses for the long-term treatment of symptoms of Parkinson's disease.\n\nNo separate DDDs are established for oral depot formulations.\n\nN05 PSYCHOLEPTICS\n\nThe group is divided into therapeutic subgroups:\n\nN05A - Antipsychotics\nN05B - Anxiolytics\nN05C - Hypnotics and sedatives\n\nN06 PSYCHOANALEPTICS\n\nThis group comprises antidepressants, psychostimulants, nootropics anti-dementia drugs and combinations with psycholeptics.\n\nAntiobesity preparations are classified in A08 - Antiobesity preparations, excl. diet products.\n\nN07 OTHER NERVOUS SYSTEM DRUGS\n\nThis group comprises other nervous system drugs, which cannot be classified in the preceding 2nd levels in ATC group N. xref: ATC_code:N is_a: EFO:0005634 ! ATC Classification System relationship: IAO:0000136 UBERON:0001016 ! is_about nervous system property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0005644 name: ATC Code P Antiparasitic products, insecticides and repellents comment: P ANTIPARASITIC PRODUCTS, INSECTICIDES AND REPELLENTS\n\nThe group is subdivided according to types of parasites.\n\nP01 ANTIPROTOZOALS\nP02 ANTHELMINTICS\n\nThe anthelmintics are subdivided according to the main type of worms (i.e. trematodes, nematodes and cestodes) causing the infections.\n\nP03 ECTOPARASITICIDES, INCL. SCABICIDES, INSECTICIDES AND REPELLENTS\n\nNo DDDs are assigned in this group. Substances classified in this group are for topical use and the consumption figures for these preparations could be expressed in e.g. grams of preparations regardless of strength. xref: ATC_code:P is_a: EFO:0005634 ! ATC Classification System property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0005645 name: ATC Code R Respiratory system def: "Classification of drugs affecting the respiratory system." [] comment: R RESPIRATORY SYSTEM\n\nInhaled antiinfectives are classified in ATC group J - Antiinfectives for systemic use.\n\nR01 NASAL PREPARATIONS\nR02 THROAT PREPARATIONS\nR03 DRUGS FOR OBSTRUCTIVE AIRWAY DISEASES\nR05 COUGH AND COLD PREPARATIONS\n\nThis group comprises a large number of preparations, most of which are combined preparations.\n\nCold preparations containing therapeutic levels of antiinfectives should be classified in ATC group J - Antiinfectives for systemic use.\n\nCold preparations with therapeutic levels of analgesics/anti-inflammatory agents should be classified in the respective N02/M01 groups, at separate 5th levels by using the 50-series.\n\n\n\nCold preparations with both antiinfectives and analgesics should be classified in ATC group J - Antiinfectives for systemic use.\n\nCold preparations with minimal amounts of antiinfectives or analgesics are classified in R05X - Other cold preparations.\n\nSee also R01 - Nasal preparations, R02 - Throat preparations, and R03D - Other systemic drugs for obstructive airway diseases.\n\n\nFixed DDDs are assigned for combinations. These DDDs are based on an average dose regimen of three times daily, and dosages in the upper area of the recommended dose ranges are chosen. The strengths of the various components are not taken into consideration. E.g. 6 UD (= 30 ml) is the fixed DDD for products where the recommended dose is 5-10 ml.\n\nR06 ANTIHISTAMINES FOR SYSTEMIC USE\nR07 OTHER RESPIRATORY SYSTEM PRODUCTS xref: ATC_code:R is_a: EFO:0005634 ! ATC Classification System relationship: IAO:0000136 UBERON:0001004 ! is_about respiratory system property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0005646 name: ATC Code S Sensory organs def: "Classification of drugs affecting the sensory organs." [] comment: S SENSORY ORGANS\n\nA formulation approved both for use in the eye/ear is classified in S03, while formulations only licensed for use in the eye or the ear are classified in S01 and S02, respectively.\n\nS01 OPHTHALMOLOGICALS\n\nSmall amounts of antiseptics in eye preparations do not influence the classification, e.g. benzalconium.\n\nSee also S03 - Ophthalmological and otological preparations.\n\nDDDs have been assigned for antiglaucoma preparations only.\n\nS02 OTOLOGICALS\n\nSmall amounts of antiseptics in otological preparations do not influence the classification, e.g. benzalconium.\n\nSee also S03 - Ophthalmological and otological preparations.\n\nNo DDDs are assigned in this group.\n\nS03 OPHTHALMOLOGICAL AND OTOLOGICAL PREPARATIONS\n\nThis group comprises preparations which can be used in both eye and ear.\n\nSmall amounts of antiseptics (e.g. benzalconium) in eye/ear preparations do not influence the classification.\n\nNo DDDs are assigned in this group.\n\n xref: ATC_code:S is_a: EFO:0005634 ! ATC Classification System relationship: IAO:0000136 UBERON:0001032 ! is_about sensory system property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0005647 name: ATC Code V Various def: "classification of drugs not specified elsewhere" [] comment: V VARIOUS\n\nThis group comprises many different types of drugs, and assigning DDDs are difficult. Very few DDDs are assigned in this group.\n\n\nV01 ALLERGENS\nV03 ALL OTHER THERAPEUTIC PRODUCTS\nV04 DIAGNOSTIC AGENTS\nV06 GENERAL NUTRIENTS\n\nThis group comprises nutrients for oral use, incl. preparations used in feeding with stomach tube. Solutions for parenteral nutrition are classified in B05BA.\n\nV07 ALL OTHER NON-THERAPEUTIC PRODUCTS\nV08 CONTRAST MEDIA\n\nThis group comprises X-ray, MRI and Ultrasound contrast media. The X-ray contrast media are subdivided into iodinated and non-iodinated compounds, and are further classified according to water solubility, osmolarity and nephrotropic/hepatotropic properties. High osmolar substances correspond mainly to ionic substances, except from ioxaglic acid, which is classified together with the non-ionic substances. MRI contrast media are subdivided according to magnetic properties.\n\nV09 DIAGNOSTIC RADIOPHARMACEUTICALS\n\nAn expert group consisting of Dik Blok (the Netherlands), Per Oscar Bremer (Norway) and Trygve Bringhammar (Sweden) is responsible for the ATC classification of radiopharmaceuticals in V09 and V10. The group has also prepared the guidelines for classification of these products.\n\nRadiopharmaceuticals for diagnostic use are classified in this group, while radiopharmaceuticals for therapeutic use are classified in V10. In general, the 3rd level are subdivided according to site of action or organ system, the 4th level according to radionuclide and the 5th level specifies the chemical substance. The ATC 5th level defines the actual form essential in nuclear medicine procedures, which includes radionuclide and carrier molecule. Therefore, products on the market, that can often be regarded as intermediate products rather than ready-to-use radiopharmaceuticals, can be given more than one (5th level) ATC code, e.g. Technetium (99mTc) exametazime (V09AA01) and technetium (99mTc) exametazime labelled cells (V09HA02).\n\nATC codes are not assigned for radionuclide precursors which are used only in the radiolabelling of another substance prior to administration.\n\nNo DDDs have been assigned for radiopharmaceuticals.\n\nV10 THERAPEUTIC RADIOPHARMACEUTICALS\n\nRadiopharmaceuticals for therapeutic use are classified in this group, while radiopharmaceuticals for diagnostic use are classified in V09 - Diagnostic radiopharmaceuticals.\n\nSee comments to V09.\n\nV20 SURGICAL DRESSINGS\n\nA detailed classification of surgical dressings is prepared and maintained by the Ministry of Defence in the UK.\n\n xref: ATC_code:V is_a: EFO:0005634 ! ATC Classification System property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0005648 name: 1182-4H def: "This line was haploid when it was established. Like other lines, it may go back in forth in ploidy (by factors of two), depending on the growth conditions and the general health of the cells." [] synonym: "1180 4H" EXACT [] synonym: "11824H" EXACT [] xref: PMID:21177962 xref: PMID:98714 is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0002935 ! Drosophila melanogaster cell line is_a: EFO:0003040 ! embryonic cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping property_value: definition:citation "FBtc0000177" xsd:string [Term] id: EFO:0005649 name: spondylolysis def: "A bone structure disease that involves a defect in the lumbar vertebral column." [] def: "A defect in the pars interarticularis of a vertebral bone." [NCIT:P378] synonym: "spondylolysis" EXACT [] {comment="preferred label from MONDO"} synonym: "spondylolysis" EXACT [MONDO:ambiguous] synonym: "spondylolysis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:2300 {source="MONDO:equivalentTo", source="EFO:0005649"} xref: HP:0003304 {source="MONDO:otherHierarchy"} xref: MedDRA:10041676 xref: MedDRA:10052013 xref: MESH:D013169 {source="DOID:2300", source="MONDO:equivalentTo", source="EFO:0005649"} xref: MeSH:D013169 xref: MONDO:0005541 xref: NCIT:C35034 {source="DOID:2300", source="MONDO:equivalentTo", source="EFO:0005649"} xref: NCIt:C35034 xref: SCTID:240221008 {source="DOID:2300", source="MONDO:equivalentTo", source="EFO:0005649"} xref: SNOMEDCT:240221008 xref: UMLS:C0038018 {source="NCIT:C35034", source="DOID:2300", source="MONDO:equivalentTo", source="EFO:0005649"} is_a: MONDO:0000836 {source="DOID:2300"} ! disease of bone structure is_a: MONDO:0045002 ! vertebral disorder relationship: EFO:0000784 UBERON:0001434 ! has_disease_location skeletal system property_value: definition:citation http://purl.obolibrary.org/obo/DOID_2300 xsd:string property_value: exactMatch DOID:2300 property_value: exactMatch http://identifiers.org/mesh/D013169 property_value: exactMatch http://identifiers.org/snomedct/240221008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038018 property_value: exactMatch NCIT:C35034 property_value: IAO:0000589 "spondylolysis (disease)" xsd:string [Term] id: EFO:0005650 name: CME-L1 def: "Cells are from the ventral leg imaginal disc of the third instar larval stage. Transcriptome analysis suggests similarity to cells in the tibia or femur region of a leg disc (Cherbas et al., 2011)." [] is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0002935 ! Drosophila melanogaster cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping [Term] id: EFO:0005651 name: drosophila developmental stage is_a: EFO:0000399 ! developmental stage [Term] id: EFO:0005653 name: serum metabolite measurement def: "quantification of some metabolite in serum" [] is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005654 name: velocity of sound measurement def: "quantification of the speed at which sound travels through bone as an indicator of the physical and structural properties of the bone" [] is_a: EFO:0004516 ! bone fracture related measurement relationship: IAO:0000136 EFO:0003931 ! is_about bone fracture relationship: IAO:0000136 UBERON:0001474 ! is_about bone element property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005655 name: response to cytosine arabinoside def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytosine arabinoside stimulus. Cytosine arabinoside is a cytidine analogue used as a drug in the treatment of various carcinomas." [] is_a: GO:0097327 ! response to antineoplastic agent property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0005657 name: response to protease inhibitor def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a protease inhibitor, a class of antiviral drugs" [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005658 name: response to selective serotonin reuptake inhibitor def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a selective serotonin reuptake inhibitor stimulus, a mood-stimulating drug." [] is_a: GO:0036276 ! response to antidepressant property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0005659 name: plasma beta-amyloid 1-40 measurement def: "Is the quantification of Beta-amyloid 1-40 in plasma, typically used as a biomarker for Alzheimer's Disease" [] is_a: EFO:0006514 ! Alzheimer's disease biomarker measurement relationship: IAO:0000136 MONDO:0004975 ! is_about Alzheimer disease property_value: definition:citation https://en.wikipedia.org/wiki/Amyloid_beta xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005660 name: plasma beta-amyloid 1-42 measurement def: "Is the quantification of Beta-amyloid 1-42 in plasma, typically used as a biomarker for Alzheimer's Disease" [] is_a: EFO:0006514 ! Alzheimer's disease biomarker measurement relationship: IAO:0000136 MONDO:0004975 ! is_about Alzheimer disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005661 name: Child Behaviour Checklist assessment def: "The CBCL is a widely used checklist of between 100 and 120 questions (depending on target age group) for identifying problem behaviour in children." [] synonym: "CBCL" EXACT [] is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005663 name: urinary uromodulin measurement def: "quantification of the glycoprotein uromodulin in urine" [] synonym: "urinary Tamm-Horsfall glycoprotein measurement" EXACT [] is_a: EFO:0005116 ! urinary metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005664 name: blood metabolite measurement def: "quantification of some metabolite in blood" [] is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005665 name: white matter hyperintensity measurement def: "quantification of white matter hyperintensity, usually measured by MRI" [] is_a: EFO:0004464 ! brain measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005666 name: thyroid peroxidase antibody measurement def: "quantification of the antibodies to the enzyme thyroid peroxidase in blood, usually as an indicator for autoimmune thyroid disease" [] is_a: EFO:0004556 ! antibody measurement is_a: EFO:0006846 ! autoimmune disease biomarker relationship: IAO:0000136 EFO:0000264 ! is_about antibody property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005667 name: urinary albumin excretion rate def: "quantification of the amount of albumin excreted in urine, measured as an indicator for kidney malfunctions such as diabetic nephropathy" [] is_a: EFO:0005116 ! urinary metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005668 name: anterior chamber depth measurement def: "quantification of the depth of the anterior chamber of the eye as an indicator for eye disease such as primary angle closure glaucoma" [] is_a: EFO:0004731 ! eye measurement relationship: IAO:0000136 MONDO:0005041 ! is_about glaucoma relationship: IAO:0000136 UBERON:0000970 ! is_about eye property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005669 name: intracerebral hemorrhage def: "Bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma." [MESH:D002543] def: "stroke subtype classified by the rupture of blood vessels in the lobar or nonlobar regions of the brain" [] comment: Editor note: consider separate subclass for OMIM ID synonym: "hemorrhage, intracerebral, susceptibility to" RELATED [MONDO:Lexical, OMIM:614519] synonym: "ich" RELATED [MONDO:Lexical, OMIM:614519] synonym: "intracerebral hemorrhage" EXACT [] {comment="preferred label from MONDO"} synonym: "stroke, hemorrhagic" EXACT [OMIM:614519, OMIM:genemap2] synonym: "stroke, hemorrhagic, susceptibility to" RELATED [OMIM:614519] xref: ICD10:I61 xref: ICD9:431 {source="EFO:0005669"} xref: MedDRA:10022754 xref: MESH:D002543 {source="MONDO:equivalentTo"} xref: MONDO:0013792 xref: OMIM:614519 {source="EFO:0005669", source="MONDO:equivalentTo"} xref: SCTID:274100004 {source="MONDO:equivalentTo"} is_a: EFO:0000551 ! intracranial hemorrhage property_value: exactMatch http://identifiers.org/mesh/D002543 property_value: exactMatch http://identifiers.org/snomedct/274100004 property_value: exactMatch https://omim.org/entry/614519 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: EFO:0005670 name: smoking initiation def: "initation of the habit of smoking, the inhaling and exhaling of tobacco smoke." [] is_a: GO:0007610 ! behavior property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005671 name: smoking behaviour measurement def: "the quantification of some smoking or smoking-related behaviour, usually self-reported via a questionnaire" [] is_a: EFO:0001444 ! measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 EFO:0004318 ! is_about smoking behavior property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005672 name: acute coronary syndrome def: "A disorder characterized by signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction." [] def: "Signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction." [NCIT:C53652] synonym: "acute coronary syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "acute coronary syndrome" EXACT [NCIT:C53652] synonym: "acute coronary syndromes" RELATED [MESH:D054058] synonym: "coronary syndrome, acute" RELATED [MESH:D054058] synonym: "coronary syndromes, acute" RELATED [MESH:D054058] synonym: "syndrome, acute coronary" RELATED [MESH:D054058] synonym: "syndromes, acute coronary" RELATED [MESH:D054058] xref: MedDRA:10051592 xref: MESH:D054058 {source="MONDO:equivalentTo", source="EFO:0005672"} xref: MeSH:D054058 xref: MONDO:0005542 xref: NCIT:C53652 {source="MONDO:equivalentTo", source="EFO:0005672"} xref: NCIt:C53652 xref: SCTID:394659003 {source="MONDO:equivalentTo", source="EFO:0005672"} xref: SNOMEDCT:394659003 xref: UMLS:C0948089 {source="MONDO:equivalentTo", source="NCIT:C53652"} is_a: EFO:1001375 {source="MESH:D054058"} ! Myocardial Ischemia is_a: MONDO:0002254 {source="NCIT:C53652"} ! syndromic disease is_a: MONDO:0020683 ! acute disease relationship: disease_arises_from_feature EFO:0001645 ! coronary artery disease relationship: EFO:0000784 UBERON:0000948 ! has_disease_location heart property_value: exactMatch http://identifiers.org/mesh/D054058 property_value: exactMatch http://identifiers.org/snomedct/394659003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0948089 property_value: exactMatch NCIT:C53652 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0005673 name: chronic mucus hypersecretion xref: SNOMEDCT:360470001 is_a: EFO:0003765 ! sign or symptom relationship: has_modifier HP:0011010 ! Chronic property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0005674 name: white matter microstructure measurement def: "quantification of the microstructre of the white matter of the brain" [] is_a: EFO:0004464 ! brain measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005675 name: vitamin D-binding protein measurement def: "the quantification of vitamin D-binding protein in blood as a biomarker for vitamin D-related diseases such as osteoporosis, arthritis, cardiovascular disease and cancer" [] is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005676 name: Autoimmune Hepatitis def: "Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma." [NCIT:C27029] subset: gard_rare subset: ordo_disease {source="Orphanet:2137"} synonym: "AIH" EXACT [] synonym: "AIH" RELATED ABBREVIATION [GARD:0005871] synonym: "autoimmune chronic active hepatitis" NARROW [DOID:2048, https://emedicine.medscape.com/article/172356-overview#a3] synonym: "autoimmune chronic hepatitis" RELATED [GARD:0005871] synonym: "autoimmune hepatitis" EXACT [DOID:2048, NCIT:C27029] synonym: "autoimmune hepatitis" EXACT [] {comment="preferred label from MONDO"} synonym: "autoimmune hepatitis with centrilobular necrosis" NARROW [DOID:2048] synonym: "autoimmune liver disease" BROAD [https://emedicine.medscape.com/article/172356-overview#a3] synonym: "autoimmune-like hepatitis" EXACT [] synonym: "chronic autoimmune hepatitis" NARROW [Orphanet:2137] xref: DOID:2048 {source="EFO:0005676", source="MONDO:equivalentTo"} xref: ICD10CM:K75.4 {source="DOID:2048", source="Orphanet:2137", source="MONDO:equivalentTo", source="Orphanet:2137/e"} xref: ICD9:571.42 {source="EFO:0005676", source="DOID:2048", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10003827 {source="Orphanet:2137", source="Orphanet:2137/e"} xref: MESH:D019693 {source="DOID:2048", source="MONDO:equivalentTo"} xref: MONDO:0016264 xref: NCIT:C27029 {source="EFO:0005676", source="DOID:2048", source="MONDO:equivalentTo"} xref: NCIt:C27029 xref: Orphanet:2137 {source="MONDO:equivalentTo"} xref: SCTID:408335007 {source="EFO:0005676", source="DOID:2048", source="MONDO:equivalentTo"} xref: SNOMEDCT:408335007 xref: UMLS:C0241910 {source="DOID:2048", source="Orphanet:2137", source="MONDO:equivalentTo", source="NCIT:C27029", source="Orphanet:2137/e", source="GARD:0005871"} xref: UMLS:C1332355 {source="DOID:2048", source="MONDO:equivalentTo"} is_a: EFO:0001421 ! liver disease is_a: EFO:0005140 ! autoimmune disease is_a: EFO:0009903 ! inflammatory disease is_a: MONDO:0000569 ! autoimmune disorder of endocrine system is_a: MONDO:0000586 ! autoimmune disorder of exocrine system is_a: MONDO:0000588 {source="DOID:2048", source="MONDO:Entailed"} ! autoimmune disorder of gastrointestinal tract relationship: EFO:0000784 UBERON:0002107 ! has_disease_location liver relationship: has_characteristic MONDO:0021136 {source="MONDO:0015114"} ! rare relationship: RO:0002200 HP:0012115 ! has phenotype Hepatitis property_value: closeMatch http://identifiers.org/meddra/10003827 property_value: exactMatch DOID:2048 property_value: exactMatch http://identifiers.org/mesh/D019693 property_value: exactMatch http://identifiers.org/snomedct/408335007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0241910 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332355 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K75.4 property_value: exactMatch NCIT:C27029 property_value: exactMatch Orphanet:2137 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0005677 name: puberty onset measurement def: "quantification of the onset of puberty in human males and females through a series of proxy measurements such as genital enlargement (males) or breast development (females). These characteristics are assessed based on pre-defined scales either through self-reporting or through assessment by a medical professional." [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:0001382 ! is_about puberty property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005678 name: hippocampal sclerosis of aging def: "Age-related neuropathological condition with severe neuronal cell loss and gliosis in the hippocampus" [EFO:0005678] def: "age-related neuropathological condition with severe neuronal cell loss and gliosis in the hippocampus" [] synonym: "hippocampal sclerosis of aging" EXACT [] {comment="preferred label from MONDO"} synonym: "HS" EXACT [] xref: MONDO:0005544 is_a: MONDO:0044996 ! cerebral cortex disorder relationship: disease_has_feature MONDO:0100035 {source="https://orcid.org/0000-0001-8486-0558"} ! structural epilepsy property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005679 name: obsolete_conotruncal heart defect def: "conotruncal and related malformations account for around a third of all congential heart defects and include a range of conditions including but not limited to tetralogy of Fallot, D-transposition of the great arteries, ventricular septal defects (conoventricular, posterior malalignment and conoseptal hypoplasia), double outlet right ventricle, aortic arch anomalies, truncus arteriosus, and interrupted aortic arch." [] property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://www.orpha.net/ORDO/Orphanet_2445\nlabel: 'Conotruncal heart malformations'" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_2445 [Term] id: EFO:0005680 name: omega-6 polyunsaturated fatty acid measurement def: "The determination of the amount of omega-6 polyunsaturated fatty acids present in a sample." [] is_a: EFO:0005110 ! fatty acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005681 name: Staphylococcus aureus infection def: "An infectious process in which the bacteria Staphylococcus aureus is present." [NCIT:C122576] def: "Staphylococcus aureus infection is a bacterial disease caused by infection from the Staphylococcus aureus bacteria." [] synonym: "Staphylococcal Infection" EXACT [] synonym: "staphylococcus aureus infection" EXACT [] {comment="preferred label from MONDO"} xref: MedDRA:10075981 xref: MONDO:0005545 xref: NCIT:C122576 {source="MONDO:equivalentTo"} xref: NCIt:C35038 xref: SCTID:406602003 {source="MONDO:equivalentTo"} is_a: EFO:1001849 {source="MONDO:Redundant", source="NCIT:C122576"} ! staphylococcal skin infections relationship: RO:0000057 NCBITaxon:1280 ! has_participant Staphylococcus aureus property_value: exactMatch http://identifiers.org/snomedct/406602003 property_value: exactMatch NCIT:C122576 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0005682 name: oxygen saturation measurement def: "quantification of the relative amount of oxygen that is dissolved or carried in a given medium" [] xref: NCIt:C60832 xref: SNOMEDCT:104847001 is_a: EFO:0003892 ! pulmonary function measurement relationship: IAO:0000136 UBERON:0001004 ! is_about respiratory system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005683 name: obsolete_plant callus def: "A portion of plant tissue that consists of mass of undifferentiated plant cells. Consists primarily of parenchyma cells but may contain other cell types as the callus begins to differentiate. May be formed as a result of wounding or may develop in culture." [] xref: PO:0005052 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with PO_0005052" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0005052 [Term] id: EFO:0005684 name: RNA-seq of coding RNA from single cells def: "An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." [] is_a: EFO:0003738 ! RNA-seq of coding RNA is_a: EFO:0008913 ! single-cell RNA sequencing relationship: OBI:0000293 EFO:0007831 ! has_input single cell specimen property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005685 name: RNA-seq of non coding RNA from single cells def: "An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." [] is_a: EFO:0003737 ! RNA-seq of non coding RNA is_a: EFO:0008913 ! single-cell RNA sequencing relationship: OBI:0000293 EFO:0007831 ! has_input single cell specimen property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005686 name: receptive language perception def: "Receptive language means the ability to understand or comprehend language heard or read" [] is_a: EFO:0003925 ! cognition property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005687 name: fibromyalgia def: "A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation." [NCIT:C87497] synonym: "fibromyalgia" EXACT [NCIT:C87497] synonym: "fibromyalgia" EXACT [] {comment="preferred label from MONDO"} synonym: "fibromyalgia syndrome" EXACT [NCIT:C87497] synonym: "FM" EXACT [] xref: DOID:631 {source="EFO:0005687", source="MONDO:equivalentTo"} xref: ICD10CM:M79.7 {source="MONDO:equivalentTo", source="DOID:631"} xref: ICD9:729.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10048439 xref: MESH:D005356 {source="EFO:0005687", source="MONDO:equivalentTo", source="DOID:631"} xref: MeSH:D005356 xref: MONDO:0005546 xref: NCIT:C87497 {source="EFO:0005687", source="MONDO:equivalentTo", source="DOID:631"} xref: NCIt:C87497 xref: Orphanet:41842 {source="MONDO:equivalentObsolete"} xref: SCTID:203082005 {source="MONDO:equivalentTo", source="DOID:631"} xref: SCTID:24693007 {source="MONDO:relatedTo", source="DOID:631"} xref: UMLS:C0016053 {source="MONDO:equivalentTo", source="NCIT:C87497", source="DOID:631"} is_a: EFO:0002970 ! muscular disease is_a: MONDO:0002254 {source="NCIT:C87497"} ! syndromic disease is_a: MONDO:0024317 {source="MONDO:cjm"} ! chronic pain syndrome is_a: MONDO:0700007 {source="NCIT:C87497"} ! idiopathic disease relationship: EFO:0000784 UBERON:0014892 ! has_disease_location skeletal muscle organ property_value: exactMatch DOID:631 property_value: exactMatch http://identifiers.org/mesh/D005356 property_value: exactMatch http://identifiers.org/snomedct/203082005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016053 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/M79.7 property_value: exactMatch NCIT:C87497 property_value: excluded_subClassOf MONDO:0021167 {source="DOID:631", source="https://orcid.org/0000-0002-4142-7153"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3170 xsd:anyURI [Term] id: EFO:0005688 name: NHDL cholesterol def: "non-high-density lipoprotein cholesterol (NHDL), calculated by subtracting the amount of cholesterol in the HDL fraction from total cholesterol, quantifies almost all potentially atherogenic apolipoprotein B containing lipoproteins encompassing cholesterol bound to low-density lipoproteins (LDL), very low-density lipoproteins, intermediate-density lipoproteins, lipoprotein(a), chylomicrons, and chylomicron remnants" [] synonym: "non-high density lipoprotein cholesterol" EXACT [] is_a: CHEBI:16113 ! cholesterol property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005689 name: non-high density lipoprotein cholesterol measurement def: "The quantification of NHDL cholesterol in blood, calculated by subtracting the amount of cholesterol in the HDL fraction from total cholesterol and used as an indicator for cardiovascular disease risk" [] synonym: "NHDL cholesterol measurement" EXACT [] xref: NCIt:C116204 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0004732 ! lipoprotein measurement is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 CHEBI:18059 ! is_about lipid relationship: IAO:0000136 EFO:0001645 ! is_about coronary artery disease relationship: IAO:0000136 EFO:0005688 ! is_about NHDL cholesterol property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005690 name: musical aptitude is_a: EFO:0003925 ! cognition property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0005691 name: plasma trimethylamine N-oxide measurement def: "The quantification in blood of trimethylamine N-oxide, a product of gut microbiome and hepatic-mediated metabolism of dietary choline and L-carnitine" [] synonym: "TMAO measurement" EXACT [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005692 name: transposable element identification design def: "transposable element identification design type aims to discover non-reference transposable element (TE) insertions from whole genome sequencing data." [] comment: RetroSeq (as cited in the source definition citation) is one of the available softwares for TE identification. Other tools include (but not limited to) VariationHunter (Hormozdiari et al. 2010), Hydra (Quinlan et al. 2011), and Tea (Lee et al., 2012). synonym: "transposable element insertion identification design" EXACT [] is_a: EFO:0004665 ! biomolecular annotation design property_value: definition:citation http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3562067/ xsd:string property_value: definition:citation https://github.com/tk2/RetroSeq xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0005693 name: mobile element identification design def: "mobile element identification design type aims to discover the mobile element (ME) insertions from whole genome sequencing data. The methodology may include the translation of read-pair and split-read mapping signals to detect ME insertions (MEIs)." [] comment: Tangram (as indicated in the source definition citation) is one of the softwares that aim to detect MEIs. There may be other available softwares that apply the same principle of MEI identification. synonym: "mobile element insertion identification design" EXACT [] is_a: EFO:0004665 ! biomolecular annotation design property_value: definition:citation http://www.biomedcentral.com/1471-2164/15/795 xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0005694 name: KMS-11 def: "KMS-11 cell line was derived from four patients with multiple myeloma. These cells represent a later stage of B-cell differentiation, and shows characteristics of plasma cells by secreting surface kappa chain immunoglobulins." [] synonym: "KMS11" EXACT [] synonym: "KMS_11" EXACT [] xref: PMID:2519219 is_a: CL:0000010 ! cultured cell relationship: RO:0000086 PATO:0000383 ! has_quality female relationship: RO:0001000 HANCESTRO:0019 ! derives_from Japanese property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/2768132 xsd:string [Term] id: EFO:0005696 name: D721Med def: "Medulloblastoma (aka D721), surgical resection from a patient with medulloblastoma as described by Darrell Bigner (1997)" [] synonym: "D-721" EXACT [] synonym: "D-721 Med" EXACT [] synonym: "D-721Med" EXACT [] synonym: "D721" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002939 ! medulloblastoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://cellfinder.org/ontology?id=CELDA_00006808 xsd:string [Term] id: EFO:0005697 name: M059J def: "M059J cells were isolated from a tumor specimen taken from a 33 year old male with untreated malignant glioblastoma. The cells were isolated concurrently from the same tumor specimen as M059K (see CRL-2365)." [] synonym: "CRL_2366" EXACT [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000519 ! glioblastoma multiforme relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.atcc.org/products/all/CRL-2366.aspx#generalinformation xsd:string [Term] id: EFO:0005698 name: Daoy def: "The Daoy cell line was established in 1985 by P. F Jacobsen of the Royal Perth Hospital in Western Australia. The line was derived from biopsy material taken from a tumor in the posterior fossa of a 4 year old boy." [] synonym: "D-324 Med" EXACT [] synonym: "D-324MED" EXACT [] synonym: "D324" EXACT [] synonym: "D324 MED" EXACT [] synonym: "HTB186" EXACT [] xref: BTO:0004328 xref: CLO:0002699 xref: RRID:CVCL_1167 is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0005699 ! desmoplastic medulloblastoma relationship: RO:0000086 PATO:0000384 ! has_quality male relationship: RO:0001000 HANCESTRO:0005 ! derives_from European property_value: definition:citation http://www.atcc.org/Products/All/HTB-186.aspx xsd:string [Term] id: EFO:0005699 name: desmoplastic medulloblastoma def: "A medulloblastoma characterized by the presence of nodular, collagenous areas which do not contain reticulin, surrounded by hypercellular areas which contain an intercellular reticulin fiber network." [NCIT:P378] synonym: "desmoplastic medulloblastoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:0005699 {source="MONDO:equivalentTo"} xref: http://www.ajnr.org/content/18/7/1364.full.pdf is_a: EFO:0002939 ! medulloblastoma property_value: closeMatch http://identifiers.org/snomedct/32456001 [Term] id: EFO:0005700 name: TTC549 def: "This is an adherent cell line derived from a hepatic rhabdoid tumor. Hepatic rhabdoid tumors are extremely rare. This cell line has a large deletion on 22q, which indicates numerous genes in addition to SNF5 are deleted." [] synonym: "MRTTTC549" EXACT [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0005701 ! malignant rhabdoid tumour relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/12973738 xsd:string property_value: definition:citation https://genome.ucsc.edu/ENCODE/protocols/cell/human/MRTTTC549_Crawford_protocol.pdf xsd:string [Term] id: EFO:0005701 name: malignant rhabdoid tumour def: "An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor." [NCIT:C3808] subset: ordo_disease {source="Orphanet:69077"} synonym: "malignant rhabdoid tumor" EXACT [DOID:3672, MONDO:0005548, Orphanet:69077] synonym: "malignant rhabdoid tumor" EXACT [Orphanet:69077] synonym: "malignant rhabdoid tumour" EXACT OMO:0003005 [] synonym: "malignant rhabdoid tumour" EXACT [DOID:3672, MONDO:0005548] synonym: "rhabdoid cancer" RELATED [DOID:3672] synonym: "rhabdoid sarcoma" EXACT [DOID:3672, NCIT:C3808] synonym: "rhabdoid tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "rhabdoid tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "rhabdoid tumor" EXACT [DOID:3672, MONDO:0019069, NCIT:C3808] xref: DOID:3672 {source="MONDO:equivalentTo"} xref: EFO:0005701 {source="MONDO:equivalentTo"} xref: GARD:0007572 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10:C49.9 {source="ORDO:69077/ntbt", source="Orphanet:69077"} xref: ICDO:8963/3 {source="NCIT:C3808"} xref: MESH:D018335 {source="DOID:3672", source="MONDO:equivalentTo", source="EFO:0005701", source="Orphanet:69077", source="Orphanet:69077/e"} xref: MESH:D018335 {source="DOID:3672", source="MONDO:equivalentTo", source="EFO:0005701", source="ORDO:69077/e", source="Orphanet:69077"} xref: MONDO:0002728 xref: NCIT:C3808 {source="DOID:3672", source="MONDO:equivalentTo", source="EFO:0005701"} xref: ONCOTREE:MRT {source="MONDO:equivalentTo"} xref: Orphanet:69077 {source="MONDO:equivalentTo"} xref: UMLS:C0206743 {source="DOID:3672", source="NCIT:C3808", source="MONDO:equivalentTo", source="Orphanet:69077", source="Orphanet:69077/e"} xref: UMLS:C0206743 {source="DOID:3672", source="NCIT:C3808", source="MONDO:equivalentTo", source="ORDO:69077/e", source="Orphanet:69077"} is_a: EFO:0003086 ! kidney disease is_a: EFO:0005784 {source="EFO:0005701", source="NCIT:C3808"} ! embryonal neoplasm is_a: EFO:1001968 {source="Orphanet:69077"} ! soft tissue sarcoma property_value: closeMatch http://identifiers.org/snomedct/189812005 property_value: closeMatch http://identifiers.org/snomedct/83118000 property_value: exactMatch DOID:3672 property_value: exactMatch DOID:3672 property_value: exactMatch http://identifiers.org/mesh/D018335 property_value: exactMatch http://identifiers.org/mesh/D018335 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206743 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206743 property_value: exactMatch NCIT:C3808 property_value: exactMatch NCIT:C3808 property_value: exactMatch Orphanet:69077 [Term] id: EFO:0005702 name: A204.1 def: "A malignant rhabdoid tumor diploid cell population cloned from the A204 ATCC cell line. [PMID: 16897758]" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002918 ! rhabdomyosarcoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.atcc.org/products/all/HTB-82.aspx xsd:string property_value: definition:citation http://www.jbc.org/content/257/15/9016.full.pdf xsd:string [Term] id: EFO:0005703 name: G401.6 def: "This is an adherent cell line that represents the prototypical renal rhabdoid tumor [PMID: 16897758]. G401.6 is a diploid, 6-thioguanine-resistant clonal variant of the G401 cell line isolated by Weissman et al., Science, 236:175-180 (1986). The parental cell line, G401, can be ordered from the ATCC (CRL1441)." [] synonym: "MRT_G401.6" EXACT [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0001643 ! kidney derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male relationship: RO:0001000 HANCESTRO:0005 ! derives_from European property_value: definition:citation http://genome.ucsc.edu/ENCODE/protocols/cell/human/MRTG401.6_Crawford_protocol.pdf xsd:string [Term] id: EFO:0005704 name: HuH-7.5 def: "HuH-7 is a well differentiated hepatocyte derived cellular carcinoma cell line that was originally taken from a liver tumor in a 57-year-old Japanese male in 1982. The line was established by Nakabayshi, H. and Sato, J. HuH-7 is an immortal cell line of epithelial-like tumorigenic cells. It usually grow in 2D monolayers. HuH7.5 developed from HuH7." [] xref: BTO:0004126 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005216 ! hepatoma cell line relationship: develops_from EFO:0005384 ! HuH-7 relationship: has_characteristic EFO:0000182 ! hepatocellular carcinoma relationship: part_of HANCESTRO:0019 ! Japanese relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0005705 name: olfactory neurosphere cell line def: "Nasal biopsies were collected from volunteer donors as an outpatient procedure as described (Feron et al., 1998). This was done by a registered otolaryngologist via an endoscopic procedure to ensure biopsy samples were taken from the superior, posterior region of the nasal septum close to the cribriform plate. Pieces of olfactory mucosa were obtained which contain stem cells in the olfactory epithelium. The stem cell population derived from human olfactory mucosa has been described as ecto-mesenchymal (Delorme et al., 2010) because it has characteristics of both neural and mesenchymal stem cells, suggesting a neural crest origin." [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002922 ! normal cell line relationship: has_characteristic PATO:0000461 ! normal [Term] id: EFO:0005706 name: Mel-2183 def: " in the Surgery Branch of the NCI.\">This cell line was from a melanoma metastasis tumor taken from the subcutaneous shoulder of an individual. Cell line was derived by Dr. Yardena Samuels (samuelsy[at]mail.nih.gov)" [] synonym: "Mel 2183" EXACT [] synonym: "Mel_2183" EXACT [] synonym: "Melanoma Mel-2183" EXACT [] xref: BTO:0000849 is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3947167/ xsd:string [Term] id: EFO:0005707 name: 786-0 def: "This line was derived from a primary clear cell adenocarcinoma. The karyotype is hypertriploid; Y was present in 60% the cells examined. The cells display both microvilli and desmosomes, and can be grown in soft agar. The cells produce a PTH like peptides that is identical to peptides produced by breast and lung tumors." [] synonym: "786_0" EXACT [] synonym: "CRL-1932" EXACT [] synonym: "RCC 7860" EXACT [] synonym: "RCC7860" EXACT [] synonym: "RCC_7860" EXACT [] xref: BTO:0003781 xref: NCIt:C117211 xref: RRID:CVCL_1051 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0001643 ! kidney derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0005708 ! renal cell adenocarcinoma relationship: part_of HANCESTRO:0005 ! European relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed?cmd=Retrieve&list_uids=721102&dopt=AbstractPlus xsd:string [Term] id: EFO:0005708 name: renal cell adenocarcinoma def: "A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy." [EFO:0005708] comment: Editor note: check relationship to RCC synonym: "adenocarcinoma of kidney" EXACT [NCIT:C9385] synonym: "adenocarcinoma of the kidney" EXACT [NCIT:C9385] synonym: "carcinoma, renal cell, malignant" EXACT [NCIT:C9385] synonym: "kidney adenocarcinoma" EXACT [NCIT:C9385] synonym: "RCC" EXACT ABBREVIATION [NCIT:C9385] synonym: "renal cell adenocarcinoma" EXACT [NCIT:C9385] synonym: "renal cell adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "renal cell adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "renal cell cancer" EXACT [NCIT:C9385] synonym: "renal cell carcinoma" BROAD [NCIT:C9385] synonym: "renal cell carcinoma" EXACT [NCIT:C9385] synonym: "renal cell carcinoma, stage unspecified" EXACT [NCIT:C9385] xref: EFO:0005708 {source="MONDO:equivalentTo"} xref: ICDO:8311/1 {source="NCIT:C9385"} xref: ICDO:8312/3 {source="NCIT:C9385"} xref: MedDRA:10001174 xref: MONDO:0005549 xref: NCIT:C9385 {source="MONDO:equivalentTo"} is_a: EFO:0000681 ! renal cell carcinoma relationship: EFO:0000784 UBERON:0002113 ! has_disease_location kidney property_value: exactMatch NCIT:C9385 property_value: exactMatch NCIT:C9385 [Term] id: EFO:0005709 name: HTR8/SVneo def: "First trimester human trophoblast cells established by immortalizing a physiologic extravillous trophoblast cell via transfection with a plasmid containing the simian virus 40 large T antigen (SV40) (see Graham et al., 1993). Cells are a thin layer of ectoderm that forms the wall of many mammalian blastulas and functions in the nutrition and implantation of the embryo." [] synonym: "HTR-8-SVNEO" EXACT [] synonym: "HTR-8/SVneo" EXACT [] synonym: "HTR8-SVNEO" EXACT [] synonym: "htr_8_svneo" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.sciencedirect.com/science/article/pii/S0014482783711390# xsd:string [Term] id: EFO:0005710 name: HFF-Myc def: "This is an adherent cell line. HFF-Myc are human foreskin fibroblasts containing a virally integrated vector expressing the canine cMyc gene. Cells were received from Dr. Beverly Torok-Storb, Fred Hutchison Cancer Research Center, Seattle, WA." [] synonym: "HFF cMyc" EXACT [] synonym: "HFF Myc" EXACT [] synonym: "HFF-cMyc" EXACT [] synonym: "HFF_cMyc" EXACT [] synonym: "HFF_Myc" EXACT [] is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0005951 xsd:string [Term] id: EFO:0005711 name: HPDE6-E6E7 def: "Normal benign adult human pancreatic duct cells immortalized with E6E7 gene of HPV-16. HPDE6-E6E7 cells demonstrated a near normal genotype and phenotype of pancreatic duct epithelial cells. [PMC1861644]" [] synonym: "HPDE-6/E6E7" EXACT [] synonym: "HPDE-6_E6E7" EXACT [] synonym: "HPDE-6E6E7" EXACT [] synonym: "HPDE6-E6E7-HPV" EXACT [] synonym: "Pancreatic duct cells E6E7" EXACT [] xref: BTO:0002362 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002922 ! normal cell line relationship: has_characteristic PATO:0000461 ! normal relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1885733/ xsd:string [Term] id: EFO:0005712 name: RPMI-7951 def: "Human skin malignant melanoma cells that can be ordered from ATCC. This is a hyperdiploid human cell line with the modal chromosome number of 49, occurring in 24% of cells. Polyploid cells occurred at 22%, which is high. Cells are adherent, and were first harvested in 1971 from a metastatic site in a lymph node." [] synonym: "RPMI 7951" EXACT [] synonym: "RPMI7951" EXACT [] synonym: "RPMI_7951" EXACT [] xref: BTO:0003508 is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma relationship: part_of HANCESTRO:0005 ! European relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0005713 name: 8988T def: "Human pancreas adenocarcinoma (PA-TU-8988T), \"established in 1985 from the liver metastasis of a primary pancreatic adenocarcinoma from a 64-year-old woman; sister cell line of PA-TU-8988S\" - DSMZ." [] synonym: "8988 T" EXACT [] synonym: "8988-T" EXACT [] synonym: "ACC 162" EXACT [] synonym: "PA-TU-8988T" EXACT [] xref: BTO:0001521 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002618 ! pancreatic carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/1348891 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0005714 name: LHCN-M2 def: "Skeletal myoblasts derived from satellite cells from the pectoralis major muscle of a 41 year old caucasian heart transplant donor, immortalized with lox-hygro-hTERT (LH), and Cdk4-neo (CN), Zhu et al. (2007) in Aging Cell, vol. 6, pp 515-523. M2 is an extremely well-differentiating subclone of LHCN (thus \"LHCN-M2\")." [] synonym: "LHCN M2" EXACT [] synonym: "LHCNM2" EXACT [] xref: BTO:0000023 xref: BTO:0005046 xref: RRID:CVCL_8890 is_a: BTO:0000256 ! myoblast cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: part_of HANCESTRO:0005 ! European relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/17559502 xsd:string [Term] id: EFO:0005715 name: WERI-Rb-1 def: "The WERI-Rb-1 line is one of two human retinoblastoma cell lines established in 1974 by R.M. McFall and T.W. Sery. This is a near diploid line. The modal chromosome number is 47 occurring at 38%, and the rate of polyploidy is 9%. Cells are grape-like clusters of round cells in suspension." [] synonym: "WERI Rb 1" EXACT [] synonym: "WERI_Rb_1" EXACT [] xref: BTO:0001178 xref: PMID:844036 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0005717 ! retinoblastoma (nonhereditary) relationship: part_of HANCESTRO:0005 ! European relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0005716 name: retinal cancer def: "A malignant neoplasm involving the retina." [MONDO:DesignPattern] def: "A malignant neoplasm involving the retina." [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of retina" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of retina" EXACT [DOID:4645, MONDO:patterns/cancer, NCIT:C3216] synonym: "malignant neoplasm of the retina" EXACT [NCIT:C3216] synonym: "malignant retina neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3216] synonym: "malignant retina tumor" EXACT [NCIT:C3216] synonym: "malignant retina tumour" EXACT OMO:0003005 [] synonym: "malignant retinal neoplasm" EXACT [DOID:4645, NCIT:C3216] synonym: "malignant retinal tumor" EXACT [NCIT:C3216] synonym: "malignant retinal tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of retina" EXACT [NCIT:C3216] synonym: "malignant tumor of the retina" EXACT [NCIT:C3216] synonym: "malignant tumour of retina" EXACT OMO:0003005 [] synonym: "malignant tumour of the retina" EXACT OMO:0003005 [] synonym: "retina cancer" EXACT [MONDO:patterns/location] synonym: "retinal cancer" EXACT [] {comment="preferred label from MONDO"} synonym: "retinal cancer" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "retinal tumor" BROAD [DOID:4645, NCIT:C4800] synonym: "retinal tumor" EXACT [DOID:4645, NCIT:C4800] synonym: "retinal tumour" BROAD OMO:0003005 [] xref: DOID:4645 {source="MONDO:equivalentTo"} xref: EFO:0005716 {source="MONDO:equivalentTo"} xref: ICD10:C69.2 {source="DOID:4645"} xref: ICD9:190.5 {source="MONDO:equivalentTo", source="DOID:4645", source="i2s"} xref: ICD9:190.5 {source="MONDO:equivalentTo", source="DOID:4645", source="MONDO:i2s"} xref: MESH:D019572 {source="MONDO:equivalentTo", source="DOID:4645"} xref: MONDO:0003072 xref: NCIT:C3216 {source="MONDO:equivalentTo", source="DOID:4645"} xref: SCTID:363465007 {source="MONDO:equivalentTo", source="DOID:4645"} is_a: EFO:1000509 {source="MONDO:Redundant", source="NCIT:C3216"} ! Retinal Neoplasm is_a: MONDO:0002236 {source="DOID:4645", source="MESH:D019572", source="MONDO:Redundant", source="NCIT:C3216"} ! ocular cancer property_value: closeMatch http://identifiers.org/snomedct/127002001 property_value: closeMatch http://identifiers.org/snomedct/93987004 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0024622 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0524801 property_value: exactMatch DOID:4645 property_value: exactMatch DOID:4645 property_value: exactMatch http://identifiers.org/mesh/D019572 property_value: exactMatch http://identifiers.org/mesh/D019572 property_value: exactMatch http://identifiers.org/snomedct/363465007 property_value: exactMatch http://identifiers.org/snomedct/363465007 property_value: exactMatch NCIT:C3216 property_value: exactMatch NCIT:C3216 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/cancer.yaml [Term] id: EFO:0005717 name: retinoblastoma (nonhereditary) subset: ordo_clinical_subtype {source="Orphanet:357034"} synonym: "non-hereditary retinoblastoma" EXACT [] {comment="preferred label from MONDO"} synonym: "non-hereditary retinoblastoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: ICD10:C69.2 {source="ORDO:357034/attributed", source="ORDO:357034/ntbt", source="Orphanet:357034"} xref: MONDO:0018161 xref: OMIM:180200 xref: Orphanet:357034 {source="MONDO:equivalentTo"} xref: UMLS:CN204600 {source="MONDO:equivalentTo"} is_a: MONDO:0008380 {source="Orphanet:357034"} ! retinoblastoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204600 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204600 property_value: exactMatch Orphanet:357034 [Term] id: EFO:0005718 name: Ishikawa def: "\"The cell line Ishikawa was established from an endometrial adenocarcinoma of a 39 year old woman. Cells can be commercially obtained from Sigma (99040201-1VL). However, it should be noted that the original source of these cells (M. Nashide, Japan) can spontaneously lose the progesterone and\nestrogen receptor. For details, see Nishida M., The Ishikawa cells from birth to the\npresent. Hum Cell. 2002 Sep;15(3):104-17.\"" [] synonym: "Ishikawa cell" EXACT [] xref: BTO:0003041 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0005232 ! endometrium adenocarcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0005719 name: Karpas 422 def: "Established from a pleural effusion of 73 year-old woman diagnosed with B-cell non-Hodgkin lymphoma (intra-abdominal, diffuse large cell lymphoma, refractory, terminal). Cells are available from Dr Abraham Karpas, Department of Haematology, University of Cambridge, and are round and polygonal, growing in suspension. [PMID: 2297573]" [] synonym: "Karpas 422 cell" EXACT [] synonym: "Karpas-422" EXACT [] is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000403 ! diffuse large B-cell lymphoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation https://ximbio.com/reagent/152419/karpas-422-cell-line xsd:string [Term] id: EFO:0005720 name: SK-MEL-5 def: "This melanoma cell line was derived from a metastatic axillary node of the skin of a 24 year old female. It is a hyperpentaploid human cell line with the modal chromosome number of 120, occurring in 9% of cells. [PMID: 1067619]" [] synonym: "AA-Mel" EXACT [] synonym: "Mel-5" EXACT [] synonym: "SK MEL 5" EXACT [] synonym: "SK-MEL-5 cell" EXACT [] synonym: "SK_MEL_5" EXACT [] synonym: "SKMEL5" EXACT [] xref: BTO:0002134 xref: CLO:0009047 xref: NCIt:C117190 xref: PMID:12828737 xref: RRID:CVCL_0527 is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma relationship: part_of HANCESTRO:0005 ! European relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0005721 name: SK-N-DZ def: "SK-N-DZ is a neuroblastoma cell line derived in 1978 from a bone marrow metastasis from a child with poorly differentiated embryonal neuroblastoma." [] synonym: "SK N DZ" EXACT [] synonym: "SK-N-DZ cell" EXACT [] synonym: "SK_N_DZ" EXACT [] synonym: "SKNDZ" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005214 ! neuroblastoma cell line relationship: has_characteristic EFO:0000621 ! neuroblastoma relationship: part_of HANCESTRO:0005 ! European relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://cancerres.aacrjournals.org/content/47/20/5433.full.pdf xsd:string [Term] id: EFO:0005722 name: SJCRH30 def: "The line was established from cells from the bone marrow of a child with rhabdomyosarcoma. Derived from a metastatic site of the bone marrow. The cells show ultrastructural elements of primitive skeletal muscle differentiation." [] synonym: "CRL-2061" EXACT [] synonym: "RH30" EXACT [] synonym: "RMS 13" EXACT [] synonym: "RMS13" EXACT [] xref: BTO:0005379 xref: CLO:0037074 xref: RRID:CVCL_0041 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002918 ! rhabdomyosarcoma relationship: part_of HANCESTRO:0005 ! European relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation https://www.encodeproject.org/documents/f714cd44-747e-4a56-9c0f-ae7ea5715783/@@download/attachment/SJCRH30_SOP_V1.pdf xsd:string [Term] id: EFO:0005723 name: GM23248 def: "Fibroblasts taken from a skin punch of the arm" [] synonym: "GM23248 cell" EXACT [] is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: part_of HANCESTRO:0005 ! European relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation "http://wiki.encodedcc.org/index.php/Scenario_9:_Personal_Genomes#PGP1_Fibroblasts.2C_iPSC_and_Derived_Samples http://cellfinder.de/ontology?id=CF_193910" xsd:string property_value: definition:citation https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM23248&product=CC xsd:string [Term] id: EFO:0005724 name: MM.1S def: "MM.1S is a B lymphoblast cell line derived in 1986. The parent cell line, MM.1, was established from peripheral blood of a multiple myeloma patient who had become resistant to steroid-based therapy. provide critical information about disease progression and the development of drug resistance. This cell line represents a valuable tool for elucidating the mechanisms of action of glucocorticoids and the development of new therapeutics. [PMID: 2926241]" [] synonym: "MM.1 S" EXACT [] synonym: "MM.1-S" EXACT [] synonym: "MM.1S cell" EXACT [] xref: PMID:12691914 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: part_of HANCESTRO:0568 ! African American relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation https://www.atcc.org/Products/All/CRL-2974.aspx xsd:string [Term] id: EFO:0005725 name: BE(2)-C def: "BE(2)-C is a clone of the SK-N-BE(2) neuroblastoma cell line (ATCC CRL-2271) that was established in November of 1972 from a bone marrow biopsy taken from child with disseminated neuroblastoma after repeated courses of chemotherapy and radiotherapy. The cells grow as clusters of flattened neuroblastic cells with occasional fine cell processes (neurites). Unlike the parent line, they generally do not detach and float." [] synonym: "BE(2) C" EXACT [] synonym: "BE(2)-C cell" EXACT [] synonym: "BE(2)_C" EXACT [] synonym: "BE2-C" EXACT [] synonym: "BE2_C" EXACT [] synonym: "BE2C" EXACT [] xref: BTO:0000932 xref: PMID:PMC1531688 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005214 ! neuroblastoma cell line relationship: has_characteristic EFO:0000621 ! neuroblastoma relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0005726 name: LNCaP clone FGC def: "LNCaP clone FGC was isolated in 1977 by J.S. Horoszewicz, et al., from a needle aspiration biopsy of the left supraclavicular lymph node of a 50-year-old Caucasian male (blood type B+) with confirmed diagnosis of metastatic prostate carcinoma. This is a hypotetraploid human cell line. The modal chromosome number was 84, occurring in 22% of cells. However, cells with chromosome counts of 86 (20%) and 87 (18%) also occurred at high frequencies. These cells are responsive to 5-alpha-dihydrotestosterone (growth modulation and acid phosphatase production)." [] synonym: "CRL-1740" EXACT [] synonym: "LNCaP clone FGC cell" EXACT [] synonym: "LNCaP-FGC" EXACT [] synonym: "LNCaP_FGC" EXACT [] xref: PMID:2660395 is_a: BTO:0001033 ! prostate cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002891 ! prostate derived cell line relationship: has_characteristic EFO:0000196 ! metastatic prostate cancer relationship: part_of HANCESTRO:0005 ! European relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0005728 name: bronchial epithelial cell derived cell line def: "A cell line derived from airway epithelial cells." [] synonym: "small airway epithelial cell derived cell line" EXACT [] xref: BTO:0002022 xref: Wikipedia:Bronchiole is_a: EFO:0001641 ! epithelial cell derived cell line relationship: RO:0001000 UBERON:0002031 ! derives_from epithelium of bronchus property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0005730 name: endothelial cell derived cell line def: "An endothelial cell derived cell line is defined as a cell line that derives from an endothelial cell." [] xref: BTO:0001519 xref: CLO:0000091 is_a: EFO:0001641 ! epithelial cell derived cell line property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0005731 name: cardiac myocyte cell derived cell line def: "A cardiac myocyte cell derived cell line is defined as a cell lineage that derives from cardiac myocyte cell" [] synonym: "cardiac muscle cell line" EXACT [] synonym: "heart muscle cell line" EXACT [] xref: BTO:0003265 is_a: EFO:0005734 ! muscle cell derived cell line relationship: RO:0001000 EFO:0001955 ! derives_from heart component property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0005734 name: muscle cell derived cell line def: "This cell line refers to a model cell line derived from muscle cells" [] xref: CLO:0000076 is_a: CL:0000010 ! cultured cell property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0005735 name: smooth muscle cell derived cell line def: "A cell line that derives from smooth muscle cell" [] xref: BTO:0004576 xref: CLO:0000078 is_a: EFO:0005734 ! muscle cell derived cell line property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0005736 name: bronchial smooth muscle cell derived cell line def: "A cell line that derives from bronchial smooth muscle cell" [] xref: BTO:0004402 is_a: EFO:0005735 ! smooth muscle cell derived cell line property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0005738 name: ESC derived cell line def: "ESC derived cell line is a cell line that derives from an embryonic stem cell." [] comment: "To date, human embryonic stem cell (hESC) lines have been obtained from fresh and frozen embryos of varying quality at morula and blastocyst stages of development (Hoffman and Carpenter, 2005a)."\n\nDifferences between human embryonic stem cell lines\nC.Allergrucci and L.E.Young\n\nHum. Reprod. Update (March/April 2007) 13 (2): 103-120. doi: 10.1093/humupd/dml041 First published online: August 26, 2006\n\n\nhttp://humupd.oxfordjournals.org/content/13/2/103.full synonym: "embryonic stem cell derived cell line" EXACT [] synonym: "ESC cell line" EXACT [] is_a: EFO:0002886 ! stem cell derived cell line property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0005739 name: obsolete_induced pluripotent stem cell def: "Induced pluripotent stem cells (iPSCs) are adult cells that have been genetically reprogrammed to an embryonic stem cell–like state by being forced to express genes and factors important for maintaining the defining properties of embryonic stem cells. " [] synonym: "iPS cell" EXACT [] synonym: "iPSC" EXACT [] property_value: definition:citation http://stemcells.nih.gov/info/basics/pages/basics10.aspx xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.56" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate with previously-created EFO_0004905" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0004905 [Term] id: EFO:0005740 name: iPSC derived cell line def: "iPSC derived cell line is a cell line that derives from iPS cells (induced pluripotent stem cell)." [] synonym: "induced pluripotent stem cell derived cell line" EXACT [] is_a: EFO:0002886 ! stem cell derived cell line property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0005741 name: infectious disease def: "A disease whose physical basis is an infectious agent" [] def: "A disorder directly resulting from the presence and activity of a microbial, viral, or parasitic agent in humans. It can be transmitted by direct or indirect contact." [NCIT:C26726] comment: Replaces 'infection' in disease hierarchy. OBI imported term infection is moved to pathologic process. This class is a container class for infectious diseases, not the process of infection itself. {source="EFO:0005741"} subset: rare_grouping synonym: "clinical infection" NARROW [NCIT:C26726] synonym: "communicable disease" EXACT [doi:10.1007/978-1-4020-5614-7_3557, https://www.merriam-webster.com/medical/communicable%20disease] synonym: "disease by infectious agent" EXACT [] synonym: "disease by infectious agent" RELATED [DOID:0050117] synonym: "disorder due to infection" EXACT [] synonym: "infection" EXACT [NCIT:C26726] synonym: "infectious" EXACT [NCIT:C26726] synonym: "infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "infectious disease" EXACT [DOID:0050117, NCIT:C26726] synonym: "infectious diseases and manifestations" EXACT [NCIT:C26726] synonym: "infectious disorder" EXACT [NCIT:C26726] synonym: "transmissible disease" EXACT [doi:10.1007/978-1-4020-5614-7_3557] xref: DOID:0050117 {source="EFO:0005741", source="MONDO:equivalentTo"} xref: ICD10:Z22 xref: ICD10CM:A00-B99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:079.0 {source="DOID:0050117"} xref: ICD9:136.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:136.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: IDO:0000436 {source="EFO:0005741"} xref: IDO:IDO_0000436 xref: MESH:D003141 {source="MONDO:equivalentTo"} xref: MONDO:0005550 xref: NCIT:C26726 {source="MONDO:equivalentTo"} xref: SCTID:40733004 {source="EFO:0005741", source="MONDO:equivalentTo"} xref: SNOMEDCT:40733004 is_a: EFO:0000408 ! disease property_value: exactMatch DOID:0050117 property_value: exactMatch http://identifiers.org/mesh/D003141 property_value: exactMatch http://identifiers.org/snomedct/40733004 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A00-B99 property_value: exactMatch NCIT:C26726 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0005742 name: lung fibroblast derived cell line is_a: EFO:0002009 ! fibroblast derived cell line [Term] id: EFO:0005743 name: CME-W1-Cl.8+ def: "This cell line was cloned from CME W1 in the Milner lab. The line was derived from L3 dorsal mesothoracic disc (Currie et al., 1988). Transcriptome analysis suggests similarity to cells along the A/P boundary of the wing blade primordium, possibly at the D/V boundary (Cherbas et al., 2011). The sex is male, based on roX expression - (L. Cherbas)." [] synonym: "CME W1" EXACT [] xref: FBtc:FBtc0000151 xref: http://flybase.org/reports/FBtc0000151.html xref: PMID:21177962 xref: PMID:25262759 is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0002935 ! Drosophila melanogaster cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation "Cl.8" xsd:string property_value: definition:citation "cl.8+" xsd:string property_value: definition:citation "clone8" xsd:string property_value: definition:citation "CME W1 cl.8+" xsd:string property_value: definition:citation "CME-W1-cl.8+ " xsd:string property_value: definition:citation "CME_W1_Cl.8+ " xsd:string property_value: definition:citation "CME_W1_Cl.8plus" xsd:string [Term] id: EFO:0005744 name: CME-W2 def: "The line was made from L3 prothoracic leg discs in the Milner lab (Currie et al., 1988)." [] synonym: "CME W2" EXACT [] synonym: "CME_W2" EXACT [] synonym: "W2" EXACT [] xref: FBtc:FBtc0000155 xref: http://flybase.org/reports/FBtc0000155.html xref: PMID:21177962 xref: PMID:25262759 is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0002935 ! Drosophila melanogaster cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping [Term] id: EFO:0005745 name: fGS/OSS def: "This stable cell line is a mix of female germ-line stem cells/ovarian somatic sheet, which contains both germ-line and somatic cells." [] synonym: "fGS.OSS" EXACT [] synonym: "fGS_OSS" EXACT [] xref: FBtc:FBtc0000191 xref: http://flybase.org/reports/FBtc0000191.html xref: PMID:17056713 is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0002935 ! Drosophila melanogaster cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0005746 name: G2 def: "Cells are made by W. Gehring from 6-10 hr embryos of cross y w f x In(3LR)C269, e mwh" [] xref: PMID:24985917 is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0002935 ! Drosophila melanogaster cell line is_a: EFO:0003040 ! embryonic cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping [Term] id: EFO:0005747 name: GM2 def: "Cells are of embryonic line made by Mosna and Dolfini. GM2 line was characterized by XO cells showing two “new” telocentric chromosomes while an autosome of the II pair was missing (Mosna and Dolfini, 1972). XO Drosophila are sterile males (http://www.ncbi.nlm.nih.gov/books/NBK10025/)." [] xref: PMID:21177962 is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0002935 ! Drosophila melanogaster cell line is_a: EFO:0003040 ! embryonic cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0005751 name: eye allergy def: "An allergic disease involving a pathogenic inflammatory response in the camera-type eye." [MONDO:patterns/specific_inflammatory_disease_by_site] synonym: "eye allergy" EXACT [] {comment="preferred label from MONDO"} xref: MedDRA:10015907 xref: MONDO:0005551 is_a: EFO:0003966 {source="EFO:0005751", source="MONDO:Entailed"} ! eye disease is_a: MONDO:0005271 {source="EFO:0005751", source="MONDO:Entailed", source="MONDO:Redundant"} ! allergic disease property_value: IAO:0000117 "Allergy that occurs in the eye." xsd:string [Term] id: EFO:0005752 name: eye inflammation def: "an inflammation in the eye(s)" [] xref: MedDRA:10015943 is_a: MP:0001845 ! inflammation relationship: BFO:0000066 UBERON:0000970 ! occurs in eye property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0005753 name: ocular vascular disease def: "a disease that occurs in the vasculature of the eye" [] def: "A disorder that is caused by pathologic changes in the ocular vasculature." [NCIT:P378] synonym: "disease of vasculature of eye" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of vasculature of eye" EXACT [] synonym: "disorder of the ocular vasculature" EXACT [] synonym: "disorder of vasculature of eye" EXACT [MONDO:patterns/location_top] synonym: "ocular vascular disorder" EXACT [NCIT:C35664] synonym: "ocular vascular disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "vasculature of eye disease" EXACT [MONDO:patterns/location] synonym: "vasculature of eye disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: MONDO:0005552 xref: NCIT:C35664 {source="EFO:0005753", source="MONDO:equivalentTo"} xref: NCIt:C35664 is_a: EFO:0003966 {source="EFO:0005753", source="MONDO:Entailed", source="NCIT:C35664"} ! eye disease is_a: EFO:0004264 ! vascular disease relationship: EFO:0000784 UBERON:0002203 ! has_disease_location vasculature of eye property_value: exactMatch NCIT:C35664 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0005754 name: parathyroid disease def: "A disease involving the parathyroid gland." [https://orcid.org/0000-0002-6601-2165] def: "a disease that occurs in the parathyroid" [] synonym: "disease of parathyroid gland" EXACT [MONDO:patterns/location_top] synonym: "disease of parathyroid glands" EXACT [DOID:11201] synonym: "disease or disorder of parathyroid gland" EXACT [] synonym: "disorder of parathyroid gland" EXACT [MONDO:patterns/location_top] synonym: "parathyroid disease" EXACT [MONDO:0005553] synonym: "parathyroid disorder" EXACT [] synonym: "parathyroid gland disease" EXACT [MONDO:patterns/location, NCIT:C26844] synonym: "parathyroid gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "parathyroid gland diseases" EXACT [NCIT:C26844] synonym: "parathyroid gland disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "parathyroid gland disorder" EXACT [NCIT:C26844] synonym: "parathyroid gland disorders" EXACT [NCIT:C26844] xref: DOID:11201 {source="MONDO:equivalentTo"} xref: ICD9:252 {source="DOID:11201"} xref: ICD9:252.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:252.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11201"} xref: MESH:D010279 {source="MONDO:equivalentTo", source="DOID:11201"} xref: MONDO:0001223 xref: NCIT:C26844 {source="MONDO:equivalentTo", source="DOID:11201"} xref: SCTID:73132005 {source="MONDO:equivalentTo", source="DOID:11201"} xref: UMLS:C0030517 {source="MONDO:equivalentTo", source="NCIT:C26844", source="DOID:11201"} is_a: EFO:0001379 {source="DOID:11201", source="MESH:D010279", source="MONDO:Redundant"} ! endocrine system disease relationship: EFO:0000784 UBERON:0001132 ! has_disease_location parathyroid gland relationship: RO:0000056 GO:0055074 ! participates_in calcium ion homeostasis property_value: exactMatch DOID:11201 property_value: exactMatch http://identifiers.org/mesh/D010279 property_value: exactMatch http://identifiers.org/snomedct/73132005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030517 property_value: exactMatch NCIT:C26844 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0005755 name: rheumatic disease def: "A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue." [] def: "Inflammatory and degenerative diseases of connective tissue structures, such as arthritis." [NCIT:C27204] comment: This is an umbrella term encompassing conditions causing chronic, often intermittent pain affecting the joints and/or connective tissue synonym: "collagen disease" RELATED [NCIT:C27204] synonym: "collagen vascular disease" RELATED [NCIT:C27204] synonym: "connective tissue disease" RELATED [NCIT:C27204] synonym: "disease, rheumatic" RELATED [MESH:D012216] synonym: "diseases, rheumatic" RELATED [MESH:D012216] synonym: "enthesopathies" RELATED [MESH:D012216] synonym: "enthesopathy" RELATED [MESH:D012216] synonym: "inflammatory rheumatism" RELATED [NCIT:C27204] synonym: "musculoskeletal pain disorder" RELATED [NCIT:C27204] synonym: "rheumatic disease" EXACT [MESH:D012216, NCIT:C27204] synonym: "rheumatic disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "rheumatism" EXACT [] synonym: "rheumatism" RELATED [MESH:D012216, NCIT:C27204] synonym: "rheumatologic disorder" EXACT [NCIT:C27204] xref: DOID:1575 {source="EFO:0005755", source="MONDO:equivalentTo"} xref: ICD9:729.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D012216 {source="MONDO:equivalentTo"} xref: MONDO:0005554 xref: NCIT:C27204 {source="MONDO:equivalentTo"} xref: SCTID:396332003 {source="EFO:0005755", source="MONDO:equivalentTo"} xref: SNOMEDCT:396332003 xref: UMLS:C0035435 {source="MONDO:equivalentTo", source="NCIT:C27204"} xref: Wikipedia:Rheumatism {source="EFO:0005755"} is_a: EFO:0002461 ! skeletal system disease is_a: EFO:1001986 {source="DOID:1575", source="MESH:D012216"} ! connective tissue disease property_value: exactMatch DOID:1575 property_value: exactMatch http://identifiers.org/mesh/D012216 property_value: exactMatch http://identifiers.org/snomedct/396332003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035435 property_value: exactMatch NCIT:C27204 property_value: excluded_subClassOf MONDO:0000589 {source="DOID:1575"} property_value: excluded_subClassOf MONDO:0002081 {source="MESH:D012216"} property_value: excluded_subClassOf MONDO:0005046 {source="MONDO:Redundant", source="NCIT:C27204"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Rheumatism or rheumatic disorder is a non-specific term for medical problems affecting the joints and/or connective tissue." xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0005756 name: skin wound def: "an injury to the skin caused by a cut, blow, or other impact." [] xref: ICD10:S51 xref: ICD10:S61 xref: ICD10:S91 xref: MedDRA:10072170 is_a: EFO:0003765 ! sign or symptom property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0005757 name: vaginal inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the vagina" [] synonym: "vaginitis" EXACT [] xref: DOID:2170 xref: ICD10:N76 xref: MedDRA:10046916 xref: MedDRA:10046950 xref: MeSH:D014627 xref: MP:0003541 xref: NCIt:C26911 xref: SNOMEDCT:30800001 is_a: MP:0001845 ! inflammation relationship: characteristic_of UBERON:0000996 ! vagina property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0005758 name: cycloplegia def: "Cycloplegia is paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation." [EFO:0005758] synonym: "accommodative paresis" RELATED [] synonym: "ciliary muscle paresis" EXACT [DOID:10033] synonym: "cycloplegia" EXACT [] {comment="preferred label from MONDO"} synonym: "cycloplegic paralysis of accommodation" EXACT [DOID:10033] synonym: "loss of accommodation" RELATED [] synonym: "paralysis of accommodation" RELATED [] synonym: "paresis of accommodation" EXACT [DOID:10033, ICD9CM:367.51] synonym: "visual accommodation paralysis" RELATED [] xref: DOID:10033 {source="MONDO:equivalentTo", source="EFO:0005758"} xref: ICD9:367.51 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0005758", source="DOID:10033"} xref: MedDRA:10011719 xref: MONDO:0005555 xref: SCTID:68158006 {source="MONDO:equivalentTo", source="EFO:0005758", source="DOID:10033"} xref: SNOMEDCT:232141000 xref: SNOMEDCT:255335004 xref: SNOMEDCT:68158006 xref: UMLS:C0235238 {source="MONDO:equivalentTo", source="EFO:0005758", source="DOID:10033"} xref: Wikipedia:Cycloplegia {source="EFO:0005758"} is_a: MONDO:0000926 {source="DOID:10033"} ! eye accommodation disease property_value: exactMatch DOID:10033 property_value: exactMatch http://identifiers.org/snomedct/68158006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0235238 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0005760 name: serum carcinoembryonic antigen measurement def: "Quantification of carcinoembryonic antigen in serum. Carcinoembryonic antigen is a cancer-specific antigen associated with both tumors and the developing fetus. The main use of this antigen is as a tumor marker, especially with respect to intestinal cancers. Production of the antigen ceases shortly before birth, but may reappear in people who develop certain types of cancer." [] is_a: EFO:0001444 ! measurement property_value: definition:citation http://labtestsonline.org.uk/understanding/analytes/cea/tab/test/ xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005761 name: lupus nephritis def: "Glomerulonephritis associated with autoimmune disease SYSTEMIC LUPUS ERYTHEMATOSUS. Lupus nephritis is histologically classified into 6 classes: class I - normal glomeruli, class II - pure mesangial alterations, class III - focal segmental glomerulonephritis, class IV - diffuse glomerulonephritis, class V - diffuse membranous glomerulonephritis, and class VI - advanced sclerosing glomerulonephritis (The World Health Organization classification 1982)." [] def: "Glomerulonephritis in the context of systemic lupus erythematosus." [NCIT:C34789] subset: gard_rare {source="GARD:0010747"} synonym: "Glomerulonephritides, lupus" RELATED [MESH:D008181] synonym: "glomerulonephritis, lupus" RELATED [MESH:D008181] synonym: "lupus Glomerulonephritides" RELATED [MESH:D008181] synonym: "lupus glomerulonephritis" EXACT [MESH:D008181, NCIT:C34789] synonym: "lupus Nephritides" RELATED [MESH:D008181] synonym: "lupus nephritis" EXACT [NCIT:C34789] synonym: "lupus nephritis" EXACT [] {comment="preferred label from MONDO"} synonym: "Nephritides, lupus" RELATED [MESH:D008181] synonym: "nephritis, lupus" RELATED [MESH:D008181] synonym: "SLE nephritis" EXACT [NCIT:C34789] xref: DOID:0080162 {source="MONDO:equivalentTo"} xref: MedDRA:10025140 xref: MESH:D008181 {source="DOID:0080162", source="EFO:0005761", source="MONDO:equivalentTo"} xref: MeSH:D008181 xref: MONDO:0005556 xref: NCIT:C34789 {source="EFO:0005761", source="MONDO:equivalentTo"} xref: NCIt:C34789 xref: SCTID:68815009 {source="MONDO:equivalentTo"} xref: UMLS:C0024143 {source="MONDO:equivalentTo", source="NCIT:C34789", source="GARD:0010747"} is_a: EFO:1002003 ! hypersensitivity reaction disease is_a: MONDO:0002462 {source="DOID:0080162", source="MESH:D008181", source="MONDO:Entailed", source="NCIT:C34789"} ! glomerulonephritis intersection_of: MONDO:0002462 ! glomerulonephritis intersection_of: disease_arises_from_feature MONDO:0007915 ! systemic lupus erythematosus relationship: disease_arises_from_feature MONDO:0007915 ! systemic lupus erythematosus relationship: IAO:0000136 MONDO:0007915 ! is_about systemic lupus erythematosus property_value: definition:citation MeSH:D008181 xsd:string property_value: exactMatch DOID:0080162 property_value: exactMatch http://identifiers.org/mesh/D008181 property_value: exactMatch http://identifiers.org/snomedct/68815009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024143 property_value: exactMatch NCIT:C34789 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10747/lupus-nephritis xsd:anyURI {source="GARD:0010747"} [Term] id: EFO:0005762 name: neuropathic pain def: "Chronic pain caused by damage to nerve fibers. It is usually associated with tissue injury." [] xref: MedDRA:10054095 xref: NCIt:C96210 xref: SNOMEDCT:247398009 is_a: EFO:0003843 ! pain property_value: definition:citation NCIt:C96210 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005763 name: pulse pressure measurement def: "quantification of the difference between systolic blood pressure and diastolic blood pressure. Higher PP is associated with left ventricle hypertrophy and the increased intimal thickness of the carotid artery, which represent early target organ damage in cardiovascular diseases" [] is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 EFO:0000275 ! is_about atrial fibrillation relationship: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005765 name: obsolete_response to haloperidol def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a haloperidol stimulus." [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.71" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use : GO_1905119 label : response to haloperidol" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/GO_1905119 [Term] id: EFO:0005766 name: skin fluorescence measurement def: "quantification of the level of fluorescence of the skin, measured by spectromemeter and used as a non-invasive marker of advanced glycation end product (AGE) accumulation. Skin fluorescence (SF) is a non-invasive marker of AGEs and is associated with the long-term complications of diabetes. SF increases with age and is also greater among individuals with diabetes" [] is_a: EFO:0006842 ! diabetes mellitus biomarker relationship: IAO:0000136 EFO:0000400 ! is_about diabetes mellitus property_value: definition:citation http://europepmc.org/abstract/MED/24934506 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005767 name: rheumatoid factor measurement def: "quantification of rheumatoid factors, antibodies in the serum of individuals with rheumatoid arthritis that react with antigenic determinants or immunoglobulins that enhance agglutination of suspended particles coated with pooled human gamma -globulin. Rheumatoid factors also occur in other autoimmune and certain infectious diseases." [] xref: NCIt:C74717 xref: SNOMEDCT:54921001 is_a: EFO:0004556 ! antibody measurement relationship: IAO:0000136 EFO:0000264 ! is_about antibody property_value: definition:citation https://en.wikipedia.org/wiki/Rheumatoid_factor xsd:string property_value: definition:citation NCIt:C805 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005768 name: response to rate control therapy def: "physiological response to treatment with rate control medication such as B blockers, calcium channel antagonists or digitalis" [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005769 name: calcium metabolic disease def: "Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization." [MESH:D002128] def: "Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." [] comment: Consider relocating this as a sibling of metabolic disease. comment: Defined in terms of GO calcium ion homeostatis. Also consistent with HPO. Note advice from GO as calcium ions are neither created or destroyed is not metabolic process in terms of go, but name retained for purposes of consistency with e.g. Snomed and Mesh comment: Defined in terms of GO calcium ion homeostatis. Also consistent with HPO. Note advice from GO as calcium ions are neither created or destroyed is not metabolic process in terms of go, but name retained for purposes of consistency with e.g. Snomed and Mesh, Consider relocating this as a sibling of metabolic disease. {source="EFO:0005769"} synonym: "calcium metabolic disease" EXACT [] {comment="preferred label from MONDO"} synonym: "calcium metabolic disorder" EXACT [] synonym: "calcium metabolism disease" EXACT [] synonym: "calcium metabolism disease" RELATED [DOID:10575] synonym: "calcium metabolism disorder" EXACT [] synonym: "calcium metabolism disorder" RELATED [] synonym: "Calcium Metabolism Disorders" EXACT [] synonym: "disorder of calcium metabolism" EXACT [] xref: DOID:10575 {source="MONDO:equivalentTo", source="EFO:0005769"} xref: ICD9:275.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0005769", source="DOID:10575"} xref: ICD9:275.40 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0005769", source="DOID:10575"} xref: ICD9:275.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9CM:275.4 xref: ICD9CM:275.40 xref: MESH:D002128 {source="MONDO:equivalentTo", source="EFO:0005769", source="DOID:10575"} xref: MeSH:D002128 xref: MONDO:0005557 xref: SCTID:71638002 {source="MONDO:equivalentTo", source="EFO:0005769", source="DOID:10575"} xref: SNOMEDCT:190863003 xref: SNOMEDCT:190874007 xref: SNOMEDCT:267442002 xref: SNOMEDCT:71638002 xref: UMLS:C0006705 {source="MONDO:equivalentTo", source="EFO:0005769", source="DOID:10575"} is_a: EFO:0009556 {source="DOID:10575"} ! mineral metabolism disease relationship: participates_in GO:0055074 ! calcium ion homeostasis relationship: RO:0000056 GO:0008152 ! participates_in metabolic process property_value: definition:citation DOID:10575 xsd:string property_value: definition:citation http://en.wikipedia.org/wiki/Disorders_of_calcium_metabolism xsd:string property_value: exactMatch DOID:10575 property_value: exactMatch http://identifiers.org/mesh/D002128 property_value: exactMatch http://identifiers.org/snomedct/71638002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006705 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0005771 name: ovarian disease def: "A disease involving the ovary." [https://orcid.org/0000-0002-6601-2165] def: "A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." [] synonym: "disease of ovary" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of ovary" EXACT [] synonym: "disease ovarian" EXACT [] synonym: "disorder of ovary" EXACT [MONDO:patterns/location_top] synonym: "ovarian disease" EXACT [NCIT:C26841] synonym: "Ovarian Disorder" EXACT [] synonym: "ovarian disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "ovarian disorder" EXACT [NCIT:C26841] synonym: "ovary disease" EXACT [MONDO:patterns/location] synonym: "ovary disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:1100 {source="MONDO:equivalentTo", source="EFO:0005771"} xref: MESH:D010049 {source="DOID:1100", source="MONDO:equivalentTo"} xref: MONDO:0005558 xref: NCIT:C26841 {source="DOID:1100", source="MONDO:equivalentTo", source="EFO:0005771"} xref: NCIt:C26841 xref: SCTID:5552004 {source="DOID:1100", source="MONDO:equivalentTo"} xref: UMLS:C0029928 {source="DOID:1100", source="MONDO:equivalentTo", source="NCIT:C26841"} is_a: EFO:0009549 {source="DOID:1100", source="MESH:D010049/inferred", source="MONDO:Redundant", source="NCIT:C26841"} ! female reproductive system disease is_a: MONDO:0002259 {source="DOID:1100", source="MESH:D010049", source="MONDO:Redundant"} ! gonadal disorder property_value: exactMatch DOID:1100 property_value: exactMatch http://identifiers.org/mesh/D010049 property_value: exactMatch http://identifiers.org/snomedct/5552004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029928 property_value: exactMatch NCIT:C26841 property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0005772 name: neurodegenerative disease def: "A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." [NCIT:C4802] comment: Editor notes: DO treats this as two diseases comment: Note this is a more general definition than the DO, which defines in terms of neuronal death. subset: merged_class synonym: "brain degeneration" EXACT [DOID:1443] synonym: "central nervous system degenerative disorder" EXACT [MONDO:patterns/location, NCIT:C4802] synonym: "central nervous system neurodegenerative disorder" EXACT [NCIT:C4802] synonym: "cerebral degeneration disease" NARROW [MONDO:0001963] synonym: "degenerative disease" BROAD [DOID:1289] synonym: "degenerative disorder of central nervous system" EXACT [MONDO:design_pattern] synonym: "neurodegenerative disease" EXACT [DOID:1289, NCIT:C4802] synonym: "neurodegenerative disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Neurodegenerative Diseases" EXACT [] synonym: "neurodegenerative disorder" EXACT [] synonym: "neurodegenerative disorders" EXACT [] xref: DOID:1289 {source="EFO:0005772", source="MONDO:equivalentTo"} xref: ICD9:349.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D019636 {source="EFO:0005772", source="DOID:1289", source="MONDO:equivalentTo"} xref: MeSH:D019636 xref: MONDO:0005559 xref: NCIT:C4802 {source="EFO:0005772", source="MONDO:equivalentTo"} xref: NCIt:C4802 xref: SCTID:80690008 {source="MONDO:equivalentTo"} xref: SNOMEDCT:362975008 xref: UMLS:C0524851 xref: UMLS:C1285162 is_a: EFO:0009386 {source="https://github.com/monarch-initiative/mondo/issues/528", source="https://orcid.org/0000-0001-5208-3432"} ! central nervous system disease property_value: dc-creator "Helen Parkinson" xsd:string property_value: definition:citation "NCIT" xsd:string property_value: exactMatch DOID:1289 property_value: exactMatch http://identifiers.org/mesh/D019636 property_value: exactMatch http://identifiers.org/snomedct/80690008 property_value: exactMatch NCIT:C4802 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0005773 name: retinal detachment def: "An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision." [NCIT:P378] def: "Retinal detachment is a disorder of the eye in which the retina peels away from its underlying layer of support tissue. Initial detachment may be localized or broad, but without rapid treatment the entire retina may detach, leading to vision loss and blindness." [] synonym: "detached retina" EXACT [NCIT:C26874] synonym: "retina, detached" EXACT [NCIT:C26874] synonym: "retinal detachment" EXACT [] {comment="preferred label from MONDO"} synonym: "retinal detachment" EXACT [OMIM:180050] xref: DOID:5327 {source="EFO:0005773", source="MONDO:equivalentTo"} xref: ICD10:H33 xref: ICD9:361.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:361.9 {source="EFO:0005773", source="MONDO:equivalentTo", source="DOID:5327", source="MONDO:i2s"} xref: ICD9:362.40 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9CM:361.9 xref: MedDRA:10038848 xref: MESH:D012163 {source="EFO:0005773", source="MONDO:equivalentTo", source="DOID:5327"} xref: MeSH:D012163 xref: MONDO:0008375 xref: NCIT:C26874 {source="EFO:0005773", source="MONDO:equivalentTo", source="DOID:5327"} xref: NCIt:C26874 xref: OMIM:180050 {source="MONDO:equivalentTo"} xref: OMIM:312530 {source="EFO:0005773", source="MONDO:equivalentObsolete"} xref: SCTID:42059000 {source="EFO:0005773", source="MONDO:equivalentTo", source="DOID:5327"} xref: SNOMEDCT:155103005 xref: SNOMEDCT:193347002 xref: SNOMEDCT:42059000 xref: UMLS:C0035305 {source="EFO:0005773", source="MONDO:equivalentTo", source="NCIT:C26874", source="DOID:5327", source="MONDO:ncbi_mim2gene_medline", source="OMIM:180050"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: EFO:0003839 {source="DOID:5327", source="MESH:D012163", source="MONDO:Redundant"} ! retinopathy relationship: EFO:0000784 UBERON:0000966 ! has_disease_location retina property_value: definition:citation http://en.wikipedia.org/wiki/Retinal_detachment xsd:string property_value: exactMatch DOID:5327 property_value: exactMatch http://identifiers.org/mesh/D012163 property_value: exactMatch http://identifiers.org/snomedct/42059000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035305 property_value: exactMatch https://omim.org/entry/180050 property_value: exactMatch NCIT:C26874 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0005774 name: brain disease def: "A disease affecting the brain or part of the brain." [EFO:0005774] comment: Editor note: NCIT has different classes for brain disease and encephalopathy synonym: "brain disease" EXACT [MONDO:patterns/location] synonym: "brain disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "brain disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "disease of brain" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of brain" EXACT [] synonym: "disorder of brain" EXACT [MONDO:patterns/location_top] synonym: "encephalopathy" NARROW [DOID:936, NCIT:C26920] xref: DOID:936 {source="EFO:0005774", source="MONDO:equivalentTo"} xref: ICD10:G93 xref: ICD9:348.3 {source="DOID:936", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:348.30 {source="DOID:936", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:348.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:348.9 {source="DOID:936", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D001927 {source="DOID:936", source="MONDO:equivalentTo"} xref: MONDO:0005560 xref: NCIT:C96413 {source="DOID:936", source="MONDO:equivalentTo"} xref: SCTID:81308009 {source="DOID:936", source="MONDO:equivalentTo"} xref: UMLS:C0006111 {source="DOID:936", source="MONDO:equivalentTo"} xref: UMLS:C0085584 {source="DOID:936", source="MONDO:equivalentTo", source="NCIT:C26920"} is_a: EFO:0009386 {source="DOID:936", source="MESH:D001927", source="MONDO:Redundant", source="NCIT:C26920/inferred"} ! central nervous system disease property_value: exactMatch DOID:936 property_value: exactMatch http://identifiers.org/mesh/D001927 property_value: exactMatch http://identifiers.org/snomedct/81308009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006111 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085584 property_value: exactMatch NCIT:C96413 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string [Term] id: EFO:0005775 name: aortic disease def: "An artery disease that is characterized by degeneration of the cells composing the aortic wall." [] def: "Pathology involving the thoracic, thoracoabdominal, or abdominal aorta (including aneurysms). (ACC)" [NCIT:P378] synonym: "aorta disease" EXACT [MONDO:patterns/location] synonym: "aorta disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "aortic disorder" EXACT [DOID:520] synonym: "aortic disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "disease of aorta" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of aorta" EXACT [] synonym: "disorder of aorta" EXACT [MONDO:patterns/location_top] synonym: "disorder of the aorta" EXACT [DOID:520] xref: DOID:520 {source="EFO:0005775", source="MONDO:equivalentTo"} xref: ICD9:447.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D001018 {source="MONDO:equivalentTo", source="DOID:520"} xref: MONDO:0005561 xref: NCIT:C101253 {source="MONDO:equivalentTo", source="DOID:520"} xref: SCTID:47040006 {source="MONDO:equivalentTo", source="DOID:520"} xref: UMLS:C0003493 {source="MONDO:equivalentTo", source="DOID:520"} is_a: MONDO:0000473 {source="DOID:520", source="NCIT:C101253"} ! arterial disorder relationship: EFO:0000784 UBERON:0000947 ! has_disease_location aorta property_value: exactMatch DOID:520 property_value: exactMatch http://identifiers.org/mesh/D001018 property_value: exactMatch http://identifiers.org/snomedct/47040006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003493 property_value: exactMatch NCIT:C101253 property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005782 name: age-related hearing impairment def: "Age-related hearing impairment is characterized by a symmetric sensorineural hearing loss that is most pronounced in the high frequencies. Age of onset, progression, and severity of age-related hearing impairment (ARHI) show great variation in the population, but with a demonstrable increased prevalence in males." [EFO:0005782] comment: Editor note: check classification sensorineural vs conductive synonym: "age-related hearing impairment" EXACT [] {comment="preferred label from MONDO"} synonym: "age-related hearing loss" EXACT [] synonym: "ARHI" EXACT ABBREVIATION [MONDO:cjm] xref: MONDO:0005562 xref: PMID:24939585 is_a: EFO:1001176 {source="MONDO:cjm"} ! sensorineural hearing loss property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0005783 name: NUT midline carcinoma def: "A rare, highly aggressive and lethal carcinoma that affects children and young adults. It arises from midline epithelial structures, most commonly the head, neck, and mediastinum. It is a poorly differentiated carcinoma and is characterized by mutations and rearrangement of the NUT gene. A balanced translocation t(15;19) is present that results in the creation of a fusion gene involving the NUT gene, most commonly BRD4-NUT fusion gene." [NCIT:C45716] subset: ordo_disease {source="Orphanet:443167"} synonym: "carcinoma with t(15;19)(q13;p13.1) translocation" EXACT [NCIT:C45716] synonym: "Midline carcinoma of children and Young adults with NUT rearrangement" EXACT [NCIT:C45716] synonym: "NMC" EXACT ABBREVIATION [Orphanet:443167] synonym: "nuclear protein in testis midline carcinoma" EXACT [DOID:0060463] synonym: "NUT carcinoma" EXACT [NCIT:C45716] synonym: "NUT Midline carcinoma" EXACT [NCIT:C45716] synonym: "nut midline carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "nut midline carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "NUT midline carcinoma of the head and neck" RELATED [ONCOTREE:NMCHN] xref: DOID:0060463 {source="MONDO:equivalentTo"} xref: EFO:0005783 {source="MONDO:equivalentTo"} xref: ICD10:C80.9 {source="Orphanet:443167", source="ORDO:443167/ntbt"} xref: MONDO:0005563 xref: NCIT:C45716 {source="EFO:0005783", source="DOID:0060463", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C45716 {source="EFO:0005783", source="DOID:0060463", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:NMCHN {source="MONDO:equivalentTo"} xref: Orphanet:443167 {source="MONDO:equivalentTo"} xref: UMLS:C1707291 {source="NCIT:C45716", source="DOID:0060463", source="MONDO:equivalentTo"} xref: UMLS:CN237663 {source="MONDO:equivalentTo"} xref: Wikipedia:NUT_midline_carcinoma {source="EFO:0005783"} is_a: EFO:0006772 {source="NCIT:C45716"} ! undifferentiated carcinoma relationship: EFO:0000784 CL:0000066 ! has_disease_location epithelial cell relationship: has_characteristic MONDO:0021136 {source="MONDO:0020031"} ! rare property_value: exactMatch DOID:0060463 property_value: exactMatch DOID:0060463 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1707291 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1707291 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237663 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237663 property_value: exactMatch NCIT:C45716 property_value: exactMatch NCIT:C45716 property_value: exactMatch Orphanet:443167 [Term] id: EFO:0005784 name: embryonal neoplasm def: "A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003" [NCIT:C3264] synonym: "embryo neoplasm" EXACT [DOID:688] synonym: "embryonal cancer" RELATED [DOID:688] synonym: "embryonal neoplasm" EXACT [NCIT:C3264] synonym: "embryonal neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "embryonal neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "embryonal tumor" EXACT [NCIT:C3264] synonym: "embryonal tumour" EXACT OMO:0003005 [] synonym: "EMBT" RELATED ABBREVIATION [ONCOTREE:EMBT] xref: DOID:688 {source="MONDO:equivalentTo"} xref: EFO:0005784 {source="MONDO:equivalentTo"} xref: MESH:D009373 {source="DOID:688", source="MONDO:relatedTo"} xref: MONDO:0005564 xref: NCIT:C3264 {source="EFO:0005784", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C3264 {source="EFO:0005784", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:EMBT {source="MONDO:equivalentTo"} xref: UMLS:C0027654 {source="DOID:688", source="NCIT:C3264", source="MONDO:equivalentTo"} is_a: EFO:0000616 {source="DOID:688/inferred", source="EFO:0005784", source="NCIT:C3264/inferred"} ! neoplasm property_value: exactMatch DOID:688 property_value: exactMatch DOID:688 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027654 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027654 property_value: exactMatch NCIT:C3264 property_value: exactMatch NCIT:C3264 [Term] id: EFO:0005785 name: blastoma def: "A malignant neoplasm composed of undifferentiated cells." [NCIT:C8997] comment: We follow NCIT and treat embryoma and colorectal cancer as equivalent. synonym: "blastoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "blastoma" EXACT [] {comment="preferred label from MONDO"} synonym: "blastoma" EXACT [DOID:0070003, NCIT:C8997] synonym: "embryoma" EXACT [NCIT:C8997] synonym: "embryoma" EXACT [DOID:4766, NCIT:C8997] xref: DOID:0070003 {source="EFO:0005785", source="MONDO:equivalentTo"} xref: DOID:4766 {source="MONDO:equivalentTo"} xref: EFO:0005785 {source="MONDO:equivalentTo"} xref: ICDO:8981/3 {source="NCIT:C8997"} xref: MONDO:0005565 xref: NCIT:C8997 {source="EFO:0005785", source="MONDO:equivalentTo", source="DOID:4766"} xref: UMLS:C0936282 {source="MONDO:equivalentTo", source="NCIT:C8997"} is_a: EFO:0005784 {source="DOID:4766", source="NCIT:C8997"} ! embryonal neoplasm is_a: MONDO:0004992 {source="DOID:0070003", source="DOID:0070003/inferred"} ! cancer property_value: exactMatch DOID:0070003 property_value: exactMatch DOID:0070003 property_value: exactMatch DOID:4766 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0936282 property_value: exactMatch NCIT:C8997 property_value: exactMatch NCIT:C8997 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4206 xsd:anyURI [Term] id: EFO:0005792 name: obsolete_Arabidopsis Growth Stage 6.10 def: "10% of flowers to be produced have opened" [] property_value: definition:citation "Boyes DC et al, (2001) Growth Stage–Based Phenotypic Analysis of Arabidopsis: A Model for High Throughput Functional Genomics in Plants. The Plant Cell 13, 1499-1510." xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replaced by a PO term for which this EFO term was a synonym. FL.00 first flower(s) open stage" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/PO_0007026 [Term] id: EFO:0005793 name: FL.01 1/4 of flowers open stage def: "30% of flowers to be produced have opened" [] synonym: "'Arabidopsis Growth Stage 6.30'" EXACT [] is_a: PO:0007016 ! whole plant flowering stage property_value: definition:citation "Boyes DC et al, (2001) Growth Stage–Based Phenotypic Analysis of Arabidopsis: A Model for High Throughput Functional Genomics in Plants. The Plant Cell 13, 1499-1510." xsd:string [Term] id: EFO:0005799 name: neonatal abstinence syndrome def: "A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors." [NCIT:P378] synonym: "drug withdrawal syndrome in newborn" EXACT [DOID:9828] synonym: "NAS" EXACT ABBREVIATION [NCIT:C87101] synonym: "neonatal abstinence syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "neonatal narcotic withdrawal syndrome" EXACT [NCIT:C87101] synonym: "neonatal withdrawal" RELATED [Wikipedia:Neonatal_withdrawal] xref: DOID:9828 {source="EFO:0005799", source="MONDO:equivalentTo"} xref: ICD9:760.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:779.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9828"} xref: MedDRA:10074192 xref: MESH:D009357 {source="EFO:0005799", source="MONDO:equivalentTo", source="DOID:9828"} xref: MeSH:D009357 xref: MONDO:0005566 xref: NCIT:C87101 {source="EFO:0005799", source="MONDO:equivalentTo", source="DOID:9828"} xref: NCIt:C87101 xref: SCTID:414819007 {source="EFO:0005799", source="MONDO:equivalentTo", source="DOID:9828"} xref: SNOMEDCT:414819007 xref: UMLS:C0027609 {source="MONDO:equivalentTo", source="NCIT:C87101", source="DOID:9828"} is_a: EFO:0005800 {source="DOID:9828", source="EFO:0005799", source="NCIT:C87101"} ! substance withdrawal syndrome property_value: definition:citation DOID:9828 xsd:string property_value: exactMatch DOID:9828 property_value: exactMatch http://identifiers.org/mesh/D009357 property_value: exactMatch http://identifiers.org/snomedct/414819007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027609 property_value: exactMatch NCIT:C87101 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0005800 name: substance withdrawal syndrome def: "A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of a substance (including alcohol, prescribed medications and recreational drugs). Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions." [https://orcid.org/0000-0002-4142-7153, NCIT:C35046] def: "A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of an addictive substance, e.g. opioids, barbiturates and alcohol; amphetamines or similarly acting sympathomimetics; cocaine; nicotine; sedatives, hypnotics, or anxiolytics. Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions." [] synonym: "drug withdrawal" EXACT [NCIT:C35046] synonym: "drug withdrawal syndrome" EXACT [] synonym: "substance withdrawal" EXACT [] synonym: "substance withdrawal disorder" EXACT [MONDO:0000566] synonym: "substance withdrawal syndrome" EXACT [NCIT:C35046] synonym: "substance withdrawal syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "withdrawal disorder" RELATED [DOID:0060001] synonym: "withdrawal syndrome" EXACT [NCIT:C35046] xref: DOID:0060001 {source="MONDO:equivalentTo"} xref: ICD9:292.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D013375 {source="MONDO:equivalentTo", source="EFO:0005800"} xref: MeSH:D013375 xref: MONDO:0005567 xref: NCIT:C35046 {source="MONDO:equivalentTo", source="EFO:0005800"} xref: NCIt:C35046 xref: SCTID:363101005 {source="MONDO:equivalentTo"} xref: UMLS:C0152128 {source="MONDO:equivalentTo"} is_a: EFO:0000677 ! mental or behavioural disorder is_a: MONDO:0002254 {source="NCIT:C35046"} ! syndromic disease is_a: MONDO:0002494 {source="DOID:0060001", source="MESH:D013375"} ! substance-related disorder property_value: exactMatch DOID:0060001 property_value: exactMatch http://identifiers.org/mesh/D013375 property_value: exactMatch http://identifiers.org/snomedct/363101005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152128 property_value: exactMatch NCIT:C35046 property_value: excluded_subClassOf MONDO:0005084 {source="EFO:0005800"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5544 xsd:anyURI [Term] id: EFO:0005801 name: cholesterol embolism def: "A vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream." [] def: "Blocking of a blood vessel by cholesterol-rich atheromatous deposits, generally occurring in the flow from a large artery to small arterial branches. It is also called arterial-arterial embolization or atheroembolism which may be spontaneous or iatrogenic. Patients with spontaneous atheroembolism often have painful, cyanotic digits of acute onset." [MESH:D017700] synonym: "atheroembolism" EXACT [DOID:1461] synonym: "cholesterol crystal embolism" EXACT [DOID:1461] synonym: "cholesterol embolism" EXACT [] {comment="preferred label from MONDO"} synonym: "purple toe syndrome" EXACT [DOID:1461] synonym: "trash foot" EXACT [DOID:1461] synonym: "warfarin blue toe syndrome" EXACT [DOID:1461] xref: DOID:1461 {source="EFO:0005801", source="MONDO:equivalentTo"} xref: ICD9:445 {source="DOID:1461", source="EFO:0005801"} xref: ICD9:459.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D017700 {source="DOID:1461", source="MONDO:equivalentTo"} xref: MONDO:0005568 xref: SCTID:307406004 {source="EFO:0005801", source="MONDO:equivalentTo"} xref: SNOMEDCT:307406004 xref: UMLS:C0149649 {source="DOID:1461", source="MONDO:equivalentTo"} xref: UMLS:C0585266 {source="MONDO:equivalentTo"} is_a: EFO:0004264 {source="DOID:1461", source="MESH:D017700/inferred"} ! vascular disease relationship: EFO:0000784 UBERON:0001981 ! has_disease_location blood vessel property_value: definition:citation CD9CM:445 xsd:string property_value: definition:citation DOID:1461 xsd:string property_value: definition:citation MeSH:D017700 xsd:string property_value: definition:citation SNOMEDCT:10690002 xsd:string property_value: exactMatch DOID:1461 property_value: exactMatch http://identifiers.org/mesh/D017700 property_value: exactMatch http://identifiers.org/snomedct/307406004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149649 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0585266 [Term] id: EFO:0005802 name: cartilage disease def: "Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE)." [] synonym: "Cartilage Diseases" EXACT [] synonym: "Cartilage disorder" EXACT [] synonym: "Chondropathy (disorder)" EXACT [] xref: DOID:1222 xref: ICD10:M94 xref: MeSH:D002357 xref: SNOMEDCT:50927007 is_a: EFO:0002461 ! skeletal system disease relationship: EFO:0000784 EFO:0000949 ! has_disease_location cartilage property_value: definition:citation DOID:1222 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005803 name: hematologic disease def: "A disease involving the hematopoietic system." [https://orcid.org/0000-0002-6601-2165] def: "Disorders of the blood and blood forming tissues." [] comment: placeholder for lymphoid disease {source="EFO:0005803"} subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:97992"} subset: rare_grouping synonym: "blood disease" EXACT [DOID:74] synonym: "blood disorder" EXACT [DOID:74, NCIT:C26323] synonym: "blood dyscrasia" EXACT [DOID:74] synonym: "disease of haematopoietic system" EXACT OMO:0003005 [] synonym: "disease of hematopoietic system" EXACT [DOID:74, MONDO:patterns/location_top] synonym: "disease of the blood and blood-forming organs" EXACT [DOID:74, ICD9CM:280-289.99] synonym: "disease or disorder of haematopoietic system" EXACT OMO:0003005 [] synonym: "disease or disorder of hematopoietic system" EXACT [] synonym: "disorder of haematopoietic system" EXACT OMO:0003005 [] synonym: "disorder of hematopoietic system" EXACT [MONDO:patterns/location_top] synonym: "haematological disease" EXACT OMO:0003005 [] synonym: "haematological disorder" EXACT OMO:0003005 [] synonym: "haematological disorders and malignancies" RELATED OMO:0003005 [] synonym: "haematological system disease" EXACT OMO:0003005 [] synonym: "haematological system disorder" EXACT [] synonym: "haematopoietic disease" EXACT OMO:0003005 [] synonym: "haematopoietic system disease" EXACT OMO:0003005 [] synonym: "haematopoietic system disease or disorder" EXACT OMO:0003005 [] synonym: "hematologic and lymphocytic disorder" EXACT [NCIT:C26323] synonym: "hematologic disease" EXACT [] synonym: "Hematologic Diseases" EXACT [] synonym: "hematologic disorder" EXACT [NCIT:C26323] synonym: "hematologic disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "hematological disease" EXACT [DOID:74, MTH:NOCODE] synonym: "hematological disorder" EXACT [MONDO:cjm, NCIT:C26323] synonym: "hematological disorders and malignancies" RELATED [GTR:AN1320635] synonym: "hematological system disease" EXACT [https://orcid.org/0000-0002-0736-9199] synonym: "hematological system disorder" EXACT [] synonym: "hematopoietic disease" EXACT [DOID:74] synonym: "hematopoietic system disease" EXACT [MONDO:patterns/location] synonym: "hematopoietic system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "rare hematologic disease" EXACT [MONDO:0020006] xref: DOID:74 {source="MONDO:equivalentTo", source="EFO:0005803"} xref: GTR:AN1320635 xref: ICD10:D75 xref: ICD10CM:D50-D89 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:280-289.99 {source="DOID:74"} xref: ICD9:289.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:289.9 {source="DOID:74", source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D006402 {source="DOID:74", source="MONDO:equivalentTo", source="EFO:0005803"} xref: MeSH:D006402 xref: MONDO:0005570 xref: NCIT:C26323 {source="DOID:74", source="MONDO:equivalentTo"} xref: Orphanet:97992 {source="MONDO:equivalentTo"} xref: SCTID:414022008 {source="MONDO:equivalentTo"} xref: UMLS:C0018939 {source="DOID:74", source="MONDO:equivalentTo", source="NCIT:C26323"} xref: UMLS:CN206939 {source="MONDO:equivalentTo"} xref: UMLS:CN882913 {source="MONDO:equivalentTo"} is_a: EFO:0000408 ! disease relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch DOID:74 property_value: exactMatch http://identifiers.org/mesh/D006402 property_value: exactMatch http://identifiers.org/snomedct/414022008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018939 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206939 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN882913 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D50-D89 property_value: exactMatch NCIT:C26323 property_value: exactMatch Orphanet:97992 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI [Term] id: EFO:0005804 name: polycythemia def: "Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume." [NCIT:C26863] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98427"} synonym: "Erythrocythemia" EXACT [] synonym: "erythrocythemia" EXACT [DOID:8432] synonym: "polycythemia" EXACT [NCIT:C26863] synonym: "polycythemia" EXACT [] {comment="preferred label from MONDO"} synonym: "polycythemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:8432 {source="MONDO:equivalentTo", source="EFO:0005804"} xref: HP:0001901 {source="MONDO:otherHierarchy"} xref: MedDRA:10036051 {source="Orphanet:98427", source="Orphanet:98427/e"} xref: MedDRA:10036058 xref: MedDRA:10036062 xref: MESH:D011086 {source="MONDO:equivalentTo", source="Orphanet:98427", source="EFO:0005804", source="Orphanet:98427/e", source="DOID:8432"} xref: MeSH:D011086 xref: MONDO:0005571 xref: NCIT:C26863 {source="MONDO:equivalentTo", source="EFO:0005804", source="MONDO:exact-label-match", source="DOID:8432"} xref: NCIt:C26863 xref: Orphanet:98427 {source="MONDO:equivalentTo"} xref: UMLS:C0032461 {source="MONDO:equivalentTo", source="NCIT:C26863", source="Orphanet:98427", source="Orphanet:98427/e", source="DOID:8432"} is_a: MONDO:0003225 {source="DOID:8432"} ! bone marrow disorder property_value: closeMatch http://identifiers.org/meddra/10036051 property_value: exactMatch DOID:8432 property_value: exactMatch http://identifiers.org/mesh/D011086 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032461 property_value: exactMatch NCIT:C26863 property_value: exactMatch Orphanet:98427 property_value: IAO:0000589 "polycythemia (disease)" xsd:string [Term] id: EFO:0005805 name: polycythemia due to hypoxia def: "polycythemia due to hypoxia istypically caused by is usually due to increased erythropoietin due to low blood oxygen level, for example in cases of COPD, chronic heart disease or pulmonary hypertension" [] def: "Polycythemia resulting from hypoxia." [NCIT:P378] synonym: "polycythemia due to hypoxia" EXACT [] {comment="preferred label from MONDO"} xref: DOID:2835 {source="MONDO:equivalentTo", source="EFO:0005805"} xref: MedDRA:10054559 xref: MONDO:0005572 xref: NCIT:C27312 {source="MONDO:equivalentTo", source="DOID:2835", source="EFO:0005805"} xref: NCIt:C27312 xref: UMLS:C0856818 {source="NCIT:C27312", source="MONDO:equivalentTo", source="DOID:2835"} is_a: MONDO:0016541 ! acquired secondary polycythemia property_value: definition:citation DOID:2835 xsd:string property_value: exactMatch DOID:2835 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0856818 property_value: exactMatch NCIT:C27312 property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0005809 name: type II hypersensitivity reaction disease def: "A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis)." [NCIT:C2889] def: "Type II hypersenstivity disease is an immune system disease in which an abnormal inflammatory response results in disease." [] comment: Editor note: check OMIM synonym: "autoimmune disease" EXACT [] {comment="preferred label from MONDO"} synonym: "autoimmune disease" EXACT [EFO:0005140, NCIT:C2889, OMIM:109100] synonym: "autoimmune disease or disorder" EXACT [] synonym: "autoimmune disorder" EXACT [NCIT:C2889] synonym: "autoimmune hypersensitivity disease" RELATED [DOID:417] synonym: "disease, autoimmune" EXACT [NCIT:C2889] synonym: "hypersensitivity reaction type II disease" RELATED [DOID:417] xref: DOID:417 {source="MONDO:equivalentTo"} xref: EFO:0005140 {source="MONDO:equivalentTo"} xref: ICD9:279.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:279.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:720 {source="DOID:417"} xref: MESH:D001327 {source="MONDO:equivalentTo"} xref: MONDO:0007179 xref: NCIT:C2889 {source="MONDO:equivalentTo", source="EFO:0005140"} xref: OBI:1110054 {source="MONDO:equivalentTo", source="EFO:0005140"} xref: OMIM:109100 {source="DOID:417", source="MONDO:equivalentTo"} xref: SCTID:85828009 {source="MONDO:equivalentTo", source="EFO:0005140"} xref: UMLS:C0004364 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C2889", source="OMIM:109100"} is_a: EFO:0000540 {source="DOID:417/inferred", source="EFO:0005140", source="MESH:D001327", source="MONDO:Redundant", source="NCIT:C2889"} ! immune system disease is_a: EFO:1002003 ! hypersensitivity reaction disease property_value: exactMatch DOID:417 property_value: exactMatch http://identifiers.org/mesh/D001327 property_value: exactMatch http://identifiers.org/snomedct/85828009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004364 property_value: exactMatch https://omim.org/entry/109100 property_value: exactMatch NCIT:C2889 property_value: excluded_subClassOf MONDO:0000605 {source="DOID:417", source="MONDO:Entailed"} [Term] id: EFO:0005815 name: tauopathy def: "Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (tau proteins) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with alzheimer disease; dementia; parkinsonian disorders; progressive supranuclear palsy (supranuclear palsy, progressive); and corticobasal degeneration." [MESH:D024801] def: "Tauopathies are heterogeneous neurodegenerative diseases characterized by the deposition of abnormal tau protein in the brain." [] synonym: "tauopathy" EXACT [] {comment="preferred label from MONDO"} xref: DOID:680 {source="MONDO:equivalentTo", source="EFO:0005815"} xref: MESH:D024801 {source="MONDO:equivalentTo", source="DOID:680"} xref: MONDO:0005574 xref: UMLS:C0949664 {source="MONDO:equivalentTo", source="DOID:680"} is_a: EFO:0005772 {source="DOID:680", source="EFO:0005815", source="MESH:D024801"} ! neurodegenerative disease property_value: definition:citation DOID:680 xsd:string property_value: definition:citation "DOID_680" xsd:string property_value: definition:citation http://europepmc.org/abstract/MED/25495175 xsd:string property_value: exactMatch DOID:680 property_value: exactMatch http://identifiers.org/mesh/D024801 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0949664 [Term] id: EFO:0005816 name: microtubule-associated protein tau xref: NCIt:C75652 is_a: CHEBI:36080 ! protein property_value: definition:citation http://www.uniprot.org/uniprot/P10636 xsd:string [Term] id: EFO:0005819 name: Kc167 def: "Kc line established from 6-12 hr embryos of cross se x e. Clone 167 isolated in Goldschmitt-Clermont laboratory. Selected for growth in high-pH medium by Bourouis and Jarry. Restored to normal medium in Cherbas laboratory" [] def: "Kc line established from 6-12 hr embryos of cross se x e. Clone 167 isolated in Goldschmitt-Clermont laboratory. Selected for growth in high-pH medium by Bourouis and Jarry. Restored to normal medium in Cherbas laboratory. Karytopye information revealed XO-haplo-IV pseudodiploid (Cherbas lab, unpublished). Cells have e/se genotype and are female, by criterion of dsx splicing (Lynch and Maniatis, 1996). Transcriptome analysis suggests plasmatocyte-like properties for Kc167 cells (Cherbas et al., 2011)" [] xref: PMID:21177962 xref: PMID:25262759 is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation https://dgrc.cgb.indiana.edu/product/View?product=1 xsd:string [Term] id: EFO:0005820 name: mbn2 def: "A tumorous blood cell line made from flies homozygous for the malignant blood neoplasm mutation l(2)mbn (Gateff, 1980)." [] xref: PMID:21177962 is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0002935 ! Drosophila melanogaster cell line is_a: EFO:0003040 ! embryonic cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping [Term] id: EFO:0005821 name: ML-DmBG1-c1 def: "This cell line was made from the L3 (y v f mal) central nervous system (Ui et al., 1994).). Cells were cloned from their parent line ML-DmBG1 in the Miyake lab." [] synonym: "BG1 c1" EXACT [] synonym: "BG1-c1" EXACT [] synonym: "DmBG1-c1" EXACT [] synonym: "DmBG1_c1" EXACT [] synonym: "ML DmBG1 c1" EXACT [] synonym: "ML_DmBG1_c1" EXACT [] xref: PMID:21177962 is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0002935 ! Drosophila melanogaster cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping [Term] id: EFO:0005822 name: ML-DmBG2-c2 def: "This cell line was made from the L3 (y v f mal) central nervous system (Ui et al., 1994).) and was cloned from their parent line ML-DmBG2 in the Miyake lab. Cells are male, by criterion of roX1 and roX2 expression (DGRC unpublished). They express acetylcholine, substance P, proctolin, and somatostatin, and stains with anti-HRP (Ui-Tei et al., 1994, 1995)." [] synonym: "BG1 c2" EXACT [] synonym: "BG1-c2" EXACT [] synonym: "DmBG2-c2" EXACT [] synonym: "DmBG2_c2" EXACT [] synonym: "ML DmBG2 c2" EXACT [] synonym: "ML_DmBG2_c2" EXACT [] xref: PMID:21177962 is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0002935 ! Drosophila melanogaster cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0005823 name: ML-DmBG3-c2 def: "ML-DmBG3-c2 cells were made from the brain ventral ganglion of late L3 (y v f mal). Cloned from their parent line ML-DMBG3 in the Miyake lab." [] synonym: "BG3 c2" EXACT [] synonym: "BG3-c2" EXACT [] synonym: "DmBG3-c2" EXACT [] synonym: "DmBG3_c2" EXACT [] synonym: "ML DmBG3 c2" EXACT [] synonym: "ML_DmBG3_c2" EXACT [] xref: PMID:21177962 xref: PMID:25262759 is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0002935 ! Drosophila melanogaster cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping [Term] id: EFO:0005824 name: ML-DmD11 def: "These cells are from the third instar larval stage, made from eye-antenna discs of late L3 (y v f mal) in the Miyake lab." [] synonym: "D11" EXACT [] synonym: "DmD11" EXACT [] synonym: "ML_DmD11" EXACT [] xref: PMID:21177962 is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0002935 ! Drosophila melanogaster cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping [Term] id: EFO:0005825 name: ML-DmD16-c3 def: "The line was derived from L3 wing discs (Ui et al., 1987). Transcriptome analysis suggests similarity to cells in the notal region, but not to adepithelial cells (Cherbas et al., 2011). Cells are also female, by criterion of Rox expression." [] synonym: "D16-c3" EXACT [] synonym: "DmD16-c3" EXACT [] synonym: "DmD16_c3" EXACT [] synonym: "ML DmD16 c3" EXACT [] synonym: "ML_DmD16_c3" EXACT [] xref: PMID:21177962 xref: PMID:25262759 is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0002935 ! Drosophila melanogaster cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0005826 name: ML-DmD17-c3 def: "This cell line was derived from the third instar larval stage (y v f mal) of dorsal metathoracic discs. Originated from the Miyake lab and cloned from its parent ML-DMD17 cell line." [] synonym: "D17-c3" EXACT [] synonym: "DmD17-c3" EXACT [] synonym: "DmD17_c3" EXACT [] synonym: "ML DmD17 c3" EXACT [] synonym: "ML_DmD17_c3" EXACT [] xref: PMID:21177962 xref: PMID:25262759 is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0002935 ! Drosophila melanogaster cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping [Term] id: EFO:0005827 name: ML-DmD20-c2 def: "This cell line was derived from the third instar larval stage (y v f mal) of antennal discs. Originated from the Miyake lab and cloned from its parent ML-DMD20 cell line. Cells are male, by criterion of roX expression." [] synonym: "D20-c2" EXACT [] synonym: "DmD20-c2" EXACT [] synonym: "DmD20_c2" EXACT [] synonym: "ML DmD20 c2" EXACT [] synonym: "ML_DmD20_c2" EXACT [] xref: PMID:21177962 xref: PMID:25262759 is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0002935 ! Drosophila melanogaster cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0005828 name: ML-DmD20-c5 def: "This cell line was derived from the third instar larval stage (y v f mal) of antennal discs. Originated from the Miyake lab and cloned from its parent ML-DMD20 cell line. Cells are male, by criterion of roX expression." [] synonym: "D20-c5" EXACT [] synonym: "DmD20-c5" EXACT [] synonym: "DmD20_c5" EXACT [] synonym: "ML DmD20 c5" EXACT [] synonym: "ML_DmD20_c5" EXACT [] xref: PMID:21177962 xref: PMID:25262759 is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0002935 ! Drosophila melanogaster cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0005829 name: ML-DmD21 def: "This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. The cells originated from the Miyake lab, and are male by criterion of roX expression (DGRC, unpublished)." [] synonym: "D21" EXACT [] synonym: "DmD21" EXACT [] synonym: "ML DmD21" EXACT [] synonym: "ML_DmD21" EXACT [] xref: PMID:21177962 is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0002935 ! Drosophila melanogaster cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0005830 name: ML-DmD32 def: "This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. Originated from the Miyake lab." [] synonym: "D32" EXACT [] synonym: "DmD32" EXACT [] synonym: "ML DmD32" EXACT [] synonym: "ML_DmD32" EXACT [] xref: PMID:21177962 is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0002935 ! Drosophila melanogaster cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping [Term] id: EFO:0005831 name: ML-DmD4-c1 def: "This cell line was derived from the third instar larval stage (y v f mal) of imaginal discs. Originated from the Miyake lab and cloned from its parent ML-DMD4 cell line." [] synonym: "D4-c1" EXACT [] synonym: "DmD4-c1" EXACT [] synonym: "DmD4_c1" EXACT [] synonym: "ML DmD4 c1" EXACT [] synonym: "ML_DmD4_c1" EXACT [] xref: PMID:21177962 xref: PMID:25262759 is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0002935 ! Drosophila melanogaster cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping [Term] id: EFO:0005832 name: ML-DmD8 def: "This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. Originated from the Miyake lab." [] synonym: "D8" EXACT [] synonym: "DmD8" EXACT [] synonym: "ML DmD8" EXACT [] synonym: "ML_DmD8" EXACT [] xref: PMID:21177962 xref: PMID:25262759 is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0002935 ! Drosophila melanogaster cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping [Term] id: EFO:0005833 name: ML-DmD9 def: "This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. Originated from the Miyake lab." [] synonym: "D9" EXACT [] synonym: "DmD9" EXACT [] synonym: "ML DmD9" EXACT [] synonym: "ML_DmD9" EXACT [] xref: PMID:21177962 xref: PMID:25262759 is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0002935 ! Drosophila melanogaster cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping [Term] id: EFO:0005834 name: OSC def: "Ovarian somatic adult stage cells originated in the Siomi lab." [] synonym: "Ovarian somatic cells" EXACT [] xref: PMID:19812547 is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0002935 ! Drosophila melanogaster cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0005835 name: OSS def: "This cell line comes from removing the stem cells from its parent fGS/OSS (female germ-line stem cells/ovarian somatic sheet), which contains both germ-line and somatic cells. Since stem cells express the Vasa protein, selected subpopulations consisting of only somatic cells was checked for vas-Egfp expression to ensure homogeneity. Cells show cytoplasmic processes like epithelial cells. This OSS line would be very useful as a cell feeder layer for culturing various types of genetically marked germ-line cells including primordial germ cells." [] synonym: "ovarian somatic sheet cells" EXACT [] xref: PMID:17056713 xref: SNOMEDCT:258333005 is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0002935 ! Drosophila melanogaster cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0005836 name: S2-DRSC def: "This S2 isolate is the one routinely used for RNAi screens at the DRSC; it is referred to at the DRSC as \"S2\". Its relationship to the line we call \"S2\" (catalog #006) is not known." [] synonym: "S2" EXACT [] synonym: "S2_DRSC" EXACT [] synonym: "Schneider's 2" EXACT [] synonym: "Schneider's line 2" EXACT [] synonym: "SL2" EXACT [] xref: NCIt:C111071 xref: PMID:21177962 xref: PMID:25262759 is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0002935 ! Drosophila melanogaster cell line is_a: EFO:0003040 ! embryonic cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0005837 name: S2R+ def: "An isolate of S2 cells that was found in the Miyake laboratory freezer. It was contributed to the Miyake lab by Imogene Schneider and is likely to be very similar to the original S2 line. an isolate of S2 that has receptors for wg signalling." [] synonym: "S2 receptor plus" EXACT [] synonym: "S2Rplus" EXACT [] xref: PMID:21177962 xref: PMID:25262759 is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0002935 ! Drosophila melanogaster cell line is_a: EFO:0003040 ! embryonic cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0005838 name: S3 def: "These cells were made from Oregon R embryos on the verge of hatching in the late embryonic stage. Originated in the Schneider lab." [] xref: NCIt:C111072 xref: PMID:21177962 xref: PMID:25262759 is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0002935 ! Drosophila melanogaster cell line is_a: EFO:0003040 ! embryonic cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping [Term] id: EFO:0005839 name: Sg4 def: "Clone of S2. Differs from the S2 cell distributed by the DGRC in many transcriptional properties, among them a higher expression of Abd-B in Sg4, and a much higher expression of defensins in S2." [] synonym: "SG4" EXACT [] xref: PMID:21177962 xref: PMID:25262759 is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0002935 ! Drosophila melanogaster cell line is_a: EFO:0003040 ! embryonic cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0005840 name: Pyruvate kinase hyperactivity def: "Autosomal dominant phenotype characterized by increase of red blood cell ATP." [EFO:0005840] synonym: "adenosine triphosphate, elevated, of erythrocytes" EXACT [] synonym: "adenosine triphosphate, elevated, of erythrocytes" RELATED [OMIM:102900] synonym: "PKHYP" EXACT [] synonym: "pyruvate kinase hyperactivity" EXACT [OMIM:102900] synonym: "pyruvate kinase hyperactivity" EXACT [] {comment="preferred label from MONDO"} xref: MESH:C566310 {source="EFO:0005840", source="MONDO:equivalentTo"} xref: MeSH:C566310 xref: MONDO:0007067 xref: OMIM:102900 {source="EFO:0005840", source="MONDO:equivalentTo"} xref: UMLS:C1863224 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:102900"} xref: UniProt:P30613 is_a: MONDO:0016789 {source="EFO:0005840"} ! pyruvate metabolism disorder is_a: Orphanet:79200 ! Disorder of energy metabolism property_value: exactMatch http://identifiers.org/mesh/C566310 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863224 property_value: exactMatch https://omim.org/entry/102900 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0005842 name: obsolete_colorectal cancer alt_id: MONDO:0003576 alt_id: MONDO:0021307 def: "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." [NCIT:C4978] comment: Editor note: some sources make distinct classes for colorectal vs large intestine. We follow NCIT and make these equivalent subset: clingen synonym: "cancer of colorectum" EXACT [MONDO:patterns/cancer] synonym: "cancer of large bowel" EXACT [NCIT:C2955] synonym: "cancer of large intestine" EXACT [NCIT:C2955] synonym: "cancer of the large bowel" EXACT [NCIT:C2955] synonym: "colon cancer" RELATED [OMIM:114500] synonym: "colorectal cancer" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "colorectal cancer" EXACT [MONDO:Lexical, OMIM:114500] synonym: "colorectum cancer" EXACT [MONDO:patterns/location] synonym: "CRC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:114500] synonym: "large intestine cancer" RELATED [DOID:5672] synonym: "malignant colorectal neoplasm" EXACT [NCIT:C4978] synonym: "malignant colorectal tumor" EXACT [NCIT:C4978] synonym: "malignant colorectum neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant large bowel neoplasm" EXACT [NCIT:C4978] synonym: "malignant large bowel tumor" EXACT [NCIT:C4978] synonym: "malignant large intestine neoplasm" EXACT [NCIT:C4978] synonym: "malignant large intestine tumor" EXACT [NCIT:C4978] synonym: "malignant neoplasm of colorectum" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of large bowel" EXACT [NCIT:C4978] synonym: "malignant neoplasm of large intestine" EXACT [NCIT:C4978] synonym: "malignant neoplasm of the large bowel" EXACT [NCIT:C4978] synonym: "malignant neoplasm of the large intestine" EXACT [NCIT:C4978] synonym: "malignant tumor of large bowel" EXACT [NCIT:C4978] synonym: "malignant tumor of large intestine" EXACT [NCIT:C4978] synonym: "malignant tumor of the large bowel" EXACT [NCIT:C4978] synonym: "malignant tumor of the large intestine" EXACT [NCIT:C4978] xref: DOID:5672 {source="MONDO:equivalentTo"} xref: DOID:9256 {source="EFO:0005842", source="MONDO:equivalentTo"} xref: EFO:0005842 {source="MONDO:equivalentTo"} xref: ICD10:C18.9 {source="DOID:5672"} xref: KEGG:05210 {source="MONDO:relatedTo", source="DOID:9256"} xref: NCIT:C4978 {source="EFO:0005842", source="MONDO:equivalentTo", source="DOID:5672"} xref: OMIM:114500 {source="MONDO:equivalentTo", source="DOID:9256"} xref: SCTID:363510005 {source="MONDO:equivalentTo", source="DOID:5672"} xref: UMLS:C1527249 {source="MONDO:equivalentTo", source="OMIM:114500", source="DOID:9256"} property_value: closeMatch http://identifiers.org/snomedct/93854002 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0009402 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0346629 property_value: exactMatch DOID:5672 property_value: exactMatch DOID:9256 property_value: exactMatch http://identifiers.org/omim/114500 property_value: exactMatch http://identifiers.org/snomedct/363510005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1527249 property_value: exactMatch NCIT:C4978 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/cancer.yaml property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.57.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicated Use:\nhttp://purl.obolibrary.org/obo/MONDO_0005575" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/MONDO_0005575 [Term] id: EFO:0005843 name: cortisol measurement def: "quantification of the hormone cortisol in blood or urine" [] xref: NCIt:C74781 xref: SNOMEDCT:62037009 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0004730 ! hormone measurement is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 CHEBI:17650 ! is_about cortisol relationship: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder relationship: IAO:0000136 EFO:0001379 ! is_about endocrine system disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005844 name: response to dietary antigen def: "Physiological response (usually immune system response) of an organism to contact with a dietary antigen" [] is_a: EFO:0010757 ! response to diet property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005845 name: hemoglobin A2 measurement def: "Hemoglobin A2 measurement is a measure of the quantity of the metallo protein hemoglobin A2, a tetramer of alpha- and delta-globin chains, in blood" [] def: "The determination of the amount of hemoglobin A2 present in a sample. [ NCI ]" [] synonym: "HbA2 levels" EXACT [] synonym: "Hemoglobin A2" EXACT [] synonym: "hemoglobin A2 levels" EXACT [] synonym: "HGBA2" EXACT [] xref: NCIt:C92259 xref: SNOMEDCT:269822005 xref: UMLS:C0474543 is_a: EFO:0004509 ! hemoglobin measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein property_value: definition:citation https://en.wikipedia.org/wiki/Hemoglobin_A2 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0005846 name: cryoglobulinemia def: "A condition characterized by the presence of cryoglobulins in the blood. Cryoglobulins are abnormal proteins that precipitate within the microvasculature on exposure to cold; microvasculature effects of cryoglobulinemia may result in restricted tissue blood flow, tissue hypoxia, and tissue necrosis. --2004" [] def: "Cryoglobulinemia is a type of vasculitis that is caused by abnormal proteins (antibodies) in the blood called 'cryoglobulins.' At cold temperatures, these proteins become solid or gel-like, which can block blood vessels and cause a variety of health problems. Many people affected by this condition will not experience any unusual signs or symptoms. When present, symptoms vary but may include breathing problems; fatigue; glomerulonephritis ; joint or muscle pain; purpura ; Raynaud's phenomenon ; skin death; and/or skin ulcers. In some cases, the exact underlying cause is unknown; however, cryoglobulinemia can be associated with a variety of conditions including certain types of infection; chronic inflammatory diseases (such as autoimmune disease); and/or cancers of the blood or immune system. Treatment varies based on the severity of the condition, the symptoms present in each person and the underlying cause." [https://rarediseases.info.nih.gov/diseases/6217/cryoglobulinemia] subset: gard_rare {source="GARD:0006217"} synonym: "cryoglobulin-related vasculitis" EXACT [] synonym: "cryoglobulinemia" EXACT [] {comment="preferred label from MONDO"} synonym: "cryoglobulinemia" EXACT [DOID:2917, MTH:NOCODE] synonym: "Cryoimmunoglobulinaemia" EXACT [DOID:2917] xref: DOID:2917 {source="MONDO:equivalentTo", source="EFO:0005846"} xref: ICD10CM:D89.1 {source="DOID:2917", source="MONDO:equivalentTo"} xref: ICD9:273.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10011475 xref: MESH:D003449 {source="DOID:2917", source="MONDO:equivalentTo", source="EFO:0005846"} xref: MeSH:D003449 xref: MONDO:0005576 xref: NCIT:C26736 {source="DOID:2917", source="MONDO:equivalentTo", source="EFO:0005846"} xref: NCIt:C26736 xref: SCTID:30911005 {source="DOID:2917", source="MONDO:equivalentTo", source="EFO:0005846"} xref: SNOMEDCT:30911005 xref: UMLS:C0010403 {source="DOID:2917", source="MONDO:equivalentTo", source="NCIT:C26736"} is_a: EFO:0005140 ! autoimmune disease is_a: EFO:0005809 {source="EFO:0005846", source="MONDO:indirect"} ! type II hypersensitivity reaction disease is_a: MONDO:0002459 {source="DOID:2917"} ! type IV hypersensitivity disease property_value: exactMatch DOID:2917 property_value: exactMatch http://identifiers.org/mesh/D003449 property_value: exactMatch http://identifiers.org/snomedct/30911005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010403 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D89.1 property_value: exactMatch NCIT:C26736 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6217/cryoglobulinemia xsd:anyURI {source="GARD:0006217"} [Term] id: EFO:0005847 name: increased risk def: "An increase in the probability of an event occuring, as compared to a background risk such as the normal risk in a given population. For intsance, the increased risk of getting breast cancer given a Brca1 mutation." [] synonym: "increase in risk" EXACT [] is_a: EFO:0003919 ! risk factor [Term] id: EFO:0005849 name: serum lipase activity measurement def: "quantification of some lipase activity in blood. It is used as a diagnostic test for pancreatitis, pancreatic cancer and and in the diagnosis and monitoring of coelic disease, Chrohn's disease and cystic fibrosis." [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 OBI:0000427 ! is_about enzyme property_value: definition:citation http://labtestsonline.org.uk/understanding/analytes/lipase/tab/test/ xsd:string property_value: definition:citation http://www.nlm.nih.gov/medlineplus/ency/article/000221.htm xsd:string property_value: definition:citation https://en.wikipedia.org/wiki/Lipase xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005850 name: emphysema pattern measurement def: "quantification by computed tomography scans of distinct pathologic patterns in the lungs that occur in emphysema" [] is_a: EFO:0007626 ! emphysema imaging measurement relationship: IAO:0000136 EFO:0000464 ! is_about emphysema property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005851 name: height-adjusted body mass index def: "height-adjusted version of BMI calculated as BMI[x] = weight(kg)/height(m)^x), where x is derived to give the lowest Pearson's correlation coefficient of BMI[x] with height within a study cohort" [] synonym: "height-adjusted BMI" EXACT [] is_a: EFO:0004340 ! body mass index property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005852 name: Heschl's gyrus morphology measurement def: "quantification of the morphology (eg thickness and surface area) of Heschl's gyrus, a core region of the auditory cortex with highly variable morphology" [] is_a: EFO:0004464 ! brain measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: definition:citation http://europepmc.org/abstract/MED/25130324 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005853 name: response to silica exposure def: "short or long term physiological response of an organism, eg in terms of deposits of silica particles in lung tissues, to exposure to silica, usually of occupational or environment origin" [] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005854 name: allergic rhinitis def: "Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life." [NCIT:C79532] synonym: "allergic form of rhinitis" EXACT [MONDO:patterns/allergic_form_of_disease] synonym: "allergic rhinitis" EXACT [] {comment="preferred label from MONDO"} synonym: "allergic rhinitis" EXACT [NCIT:C79532, OMIM:607154] synonym: "Alrh" RELATED [OMIM:607154] synonym: "AR" EXACT [] synonym: "atopic rhinitis" NARROW [DOID:4481] synonym: "non-seasonal allergic rhinitis" NARROW [DOID:4481] synonym: "Perenial allergic rhinitis" NARROW [DOID:4481] synonym: "perennial allergic rhinitis" NARROW [DOID:4481] synonym: "pollenosis" EXACT [DOID:4481] synonym: "seasonal allergic rhinitis" NARROW [DOID:4481] xref: DOID:4481 {source="EFO:0005854", source="MONDO:equivalentTo"} xref: HP:0003193 {source="EFO:0005854", source="MONDO:otherHierarchy"} xref: ICD9:477 {source="EFO:0005854"} xref: ICD9:477.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:477.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10001723 xref: MedDRA:10001727 xref: MONDO:0011786 xref: NCIT:C79532 {source="EFO:0005854", source="MONDO:equivalentTo"} xref: NCIt:C79532 xref: OMIM:607154 xref: SCTID:61582004 {source="EFO:0005854", source="MONDO:equivalentTo"} xref: SNOMEDCT:61582004 xref: UMLS:C2607914 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C79532", source="OMIM:607154"} is_a: EFO:0008521 {source="DOID:4481", source="MONDO:Redundant", source="NCIT:C79532"} ! rhinitis is_a: MONDO:0000771 ! allergic respiratory disease property_value: exactMatch DOID:4481 property_value: exactMatch http://identifiers.org/snomedct/61582004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2607914 property_value: exactMatch NCIT:C79532 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: EFO:0005855 name: narcolepsy without cataplexy def: "A condition characterized by recurrent episodes of daytime somnolence and lapses in consciousness (microsomnias). People who have narcolepsy without cataplexy have sleepiness but no emotionally triggered muscle weakness, and generally have less severe symptoms. " [] def: "Narcolepsy without cataplexy is characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and sometimes paralysis at sleep, hypnagogic hallucinations and automatic behavior." [Orphanet:83465] subset: ordo_disease {source="Orphanet:83465"} synonym: "Narcolepsy (disorder)" EXACT [] synonym: "narcolepsy without cataplexy" EXACT [] {comment="preferred label from MONDO"} synonym: "Narcolepsy, without cataplexy" EXACT [] synonym: "Narcoleptic Syndrome" EXACT [] synonym: "Narcoleptic Syndromes" EXACT [] synonym: "Paroxysmal Sleep" EXACT [] synonym: "Sleep, Paroxysmal" EXACT [] synonym: "Syndromes, Narcoleptic" EXACT [] xref: ICD10CM:G47.4 {source="Orphanet:83465/ntbt", source="Orphanet:83465", source="MONDO:directSiblingOf"} xref: ICD10CM:G47.419 {source="MONDO:equivalentTo"} xref: ICD9:347.00 {source="EFO:0005855"} xref: MONDO:0019371 xref: Orphanet:83465 {source="MONDO:equivalentTo"} xref: SCTID:91521000119104 {source="MONDO:equivalentTo", source="EFO:0005855"} xref: SNOMEDCT:91521000119104 xref: UMLS:C1456240 {source="MONDO:equivalentTo"} xref: UMLS:CN206062 {source="MONDO:equivalentTo"} is_a: MONDO:0021107 {source="https://orcid.org/0000-0001-5208-3432"} ! narcolepsy relationship: EFO:0000784 UBERON:0000955 ! has_disease_location brain relationship: has_characteristic MONDO:0021136 {source="MONDO:0019045"} ! rare property_value: exactMatch http://identifiers.org/snomedct/91521000119104 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1456240 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206062 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G47.419 property_value: exactMatch Orphanet:83465 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0005856 name: arthritis def: "An inflammatory process affecting a joint. Causes include infection, autoimmune processes, degenerative processes, and trauma. Signs and symptoms may include swelling around the affected joint and pain." [NCIT:C2883] def: "Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints." [] comment: Editor note: osteoarthritis is primarily non-inflammatory which causes issues if we classify arthritis as inflammatory. synonym: "arthritic joint disease" EXACT [] {comment="preferred label from MONDO"} synonym: "arthritides" EXACT [] synonym: "arthritis" EXACT [DOID:848, NCIT:C2883] synonym: "inflammation of skeletal joint" EXACT [] synonym: "inflammatory disorder of joint" NARROW [DOID:848] synonym: "skeletal joint inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:848 {source="EFO:0005856", source="MONDO:equivalentTo"} xref: ICD10:M13 xref: MedDRA:10003246 xref: MESH:D001168 {source="DOID:848", source="EFO:0005856", source="MONDO:equivalentTo"} xref: MeSH:D001168 xref: MONDO:0005578 xref: NCIT:C2883 {source="DOID:848", source="EFO:0005856", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIt:C2883 xref: SCTID:3723001 {source="DOID:848", source="EFO:0005856", source="MONDO:equivalentTo"} xref: SNOMEDCT:3723001 xref: UMLS:C0003864 {source="DOID:848", source="MONDO:equivalentTo", source="NCIT:C2883"} xref: Wikipedia:Arthritis {source="EFO:0005856"} is_a: EFO:0005755 ! rheumatic disease is_a: EFO:0009903 {source="MONDO:Redundant"} ! inflammatory disease is_a: EFO:1000999 {source="MESH:D001168", source="MONDO:Redundant", source="NCIT:C2883"} ! joint disease is_a: MONDO:0002614 {source="DOID:848", source="MONDO:Redundant"} ! bone inflammation disease property_value: exactMatch DOID:848 property_value: exactMatch http://identifiers.org/mesh/D001168 property_value: exactMatch http://identifiers.org/snomedct/3723001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003864 property_value: exactMatch NCIT:C2883 property_value: excluded_subClassOf MONDO:0005554 {source="EFO:0005856"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0005857 name: mouse embryo stage def: "An embryo stage for the mouse species." [] synonym: "embryonic mouse stage" EXACT [] synonym: "mouse embryonic stage" EXACT [] xref: MmusDv:0000002 is_a: EFO:0007725 ! embryo stage relationship: only_in_taxon NCBITaxon:10088 ! Mus property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005858 name: C. elegans embryo stage def: "The whole period of embryogenesis, from the formation of an egg till its hatch. [ http://www.wormbase.org/db/gene/gene?name=wjc ] " [] synonym: "Caenorhabditis elegans embryo stage" EXACT [] synonym: "embryo Ce" EXACT [] xref: WBls:0000003 is_a: EFO:0007725 ! embryo stage relationship: only_in_taxon NCBITaxon:6239 ! Caenorhabditis elegans property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005859 name: Drosophila embryo stage def: "The stage of the Drosophila life-cycle from fertilization to hatching. [ FBC:DOS ]\n" [] synonym: "Drosophila embryonic stage" EXACT [] xref: FBdv:00005289 is_a: EFO:0007725 ! embryo stage relationship: only_in_taxon NCBITaxon:7215 ! Drosophila property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005860 name: embryonic stage 1 def: "The embryonic stage that lasts from the end of fertilization to the end of the second nuclear division. Duration at 25 degrees C\\: approximately 25 minutes (0-25 minutes after egg laying)." [] comment: Temporal ordering number - 40. xref: FBdv:00005291 is_a: EFO:0005859 ! Drosophila embryo stage property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005861 name: embryonic stage 2 def: "Nuclear divisions 3-8. The egg cytoplasm contracts producing a clear separation from the vitelline membrane and empty spaces at the anterior and posterior. The cleavage nuclei migrate towards the periphery. Duration at 25 degrees C approximately 40 minutes (25-65 minutes AEL). Temporal ordering number - 70." [] comment: Temporal ordering number - 70. xref: FBdv:00005293 is_a: EFO:0005859 ! Drosophila embryo stage property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005862 name: embryonic stage 3 def: "Nuclear division 9. The cleavage nuclei complete their migration to the periphery. Polar buds form at the posterior pole and divide once. Duration at 25 degrees C: approximately 15 minutes (65-80 minutes after egg laying)." [] comment: Temporal ordering number - 140. xref: FBdv:00005301 is_a: EFO:0005859 ! Drosophila embryo stage [Term] id: EFO:0005863 name: embryonic stage 4 def: "Nuclear division 10-13. Polar buds divide twice and become tightly grouped at the posterior pole by the end of this stage. Nuclei visible at the rim of the embryo. Stage 4 ends with the beginning of cellularization. Duration at 25 degrees C: approx. 50 minutes (80-130 minutes after egg laying)." [] comment: Temporal ordering number - 170. xref: FBdv:00005306 is_a: EFO:0005859 ! Drosophila embryo stage property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005864 name: embryonic stage 5 def: "Cellularization. Stage 5 begins when cellularization starts. Near the end of this stage the pole cells begin to migrate dorsally and ventral midline cells acquire an irregular, wavy appearance. Stage 5 ends when ventral furrow formation becomes apparent. Duration at 25 degrees: approximately 40 minutes (130-170 minutes after egg laying)." [] comment: Temporal ordering number - 210. xref: FBdv:00005311 is_a: EFO:0005859 ! Drosophila embryo stage property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005865 name: embryonic stage 6 def: "Stage 6 begins when the ventral furrow becomes apparent, an event which is followed rapidly by the formation of the cephalic furrow. Stage 6 ends when the pole cells have adopted a dorsal (horizontal) position at the posterior. Duration at 25 degrees C: approximately 10 minutes (170-180 minutes after egg laying)." [] comment: Temporal ordering number - 230. xref: FBdv:00005318 is_a: EFO:0005859 ! Drosophila embryo stage property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005866 name: embryonic stage 7 def: "Stage 7 begins when the pole cells have adopted a dorsal (horizontal) position at the posterior. Invagination of the anterior and posterior midgut and hindgut follows. The 'discoid plate' that carries the pole cells forms a pocket. Transverse furrows (dorsal folds) form on the dorsal surface. This stage ends when the anterior wall of the amnioproctodeal invagination starts moving anteriorly and the pole cells are no longer visible externally. Duration at 25 degrees C: approximately 10 minutes (180-190 minutes after egg laying)." [] comment: Temporal ordering number - 240. xref: FBdv:00005319 is_a: EFO:0005859 ! Drosophila embryo stage property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005868 name: embryonic stage 8 def: "Stage 8 starts with the rapid phase of germ band extension and ends with the beginning of mesodermal segmentation. By the end of this stage germ band extension has progressed to the point where the proctodeal opening is at about 60% egg length and the dorsal folds (transverse furrows) are no longer visible. Duration at 25 degrees C: approximately 30 minutes (190-220 minutes after egg laying)." [] comment: Temporal ordering number - 250. xref: FBdv:00005322 is_a: EFO:0005859 ! Drosophila embryo stage property_value: IAO:0000117 "Catehrine Leroy" xsd:string [Term] id: EFO:0005869 name: embryonic stage 9 def: "Stage 9 begins when mesodermal segmentation becomes (transiently) visible\\, and ends with the appearance of the stomodeal invagination slightly ventral to the anterior pole. Duration at 25 degrees C: approximately 40 minutes (220-260 minutes after egg laying)." [] comment: Temporal ordering number - 280. xref: FBdv:00005323 is_a: EFO:0005859 ! Drosophila embryo stage property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005870 name: embryonic stage 10 def: "Stage 10 begins with the appearance of the stomodeal invagination, slightly ventral to the anterior pole. Periodic furrows appear in the embryonic epidermis around the middle of the stage. The germ band continues to extend, reaching its maximum extent of 75% egg length towards the end of the stage. The end of the stage is marked by the beginning of invagination of the tracheal placodes. Duration at 25 degrees : approximately 60 minutes (260-320 minutes after egg laying)." [] comment: Temporal ordering number - 290. xref: FBdv:00005324 is_a: EFO:0005859 ! Drosophila embryo stage property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005871 name: embryonic stage 11 def: "Stage 11 begins with the invagination of the tracheal placodes. Para-segmental furrow form and segment boundary furrows become deep folds. Within the head, gnathal protuberances become apparent. The end of this stage is signaled by the appearance of a distinct cleft at the posterior pole of the embryo, which becomes detached from the vitelline membrane. This marks the beginning of germ-band retraction. Duration at 25 degrees C: approximately 120 minutes (320-440 minutes after egg laying)." [] comment: Temporal ordering number - 310. xref: FBdv:00005325 is_a: EFO:0005859 ! Drosophila embryo stage property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005872 name: embryonic stage 12 def: "Germ band retraction. Stage 12 begins when germ-band retraction starts and ends when this process is complete so that the prospective anal plate occupies the posterior pole. During this stage the posterior and anterior midgut primordia meet and fuse and the tracheal pits fuse to form the tracheal tree. Duration at 25 degrees C: approximately 120 minutes (440-560 minutes after egg laying)." [] comment: Temporal ordering number - 320. xref: FBdv:00005327 is_a: EFO:0005859 ! Drosophila embryo stage property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005873 name: embryonic stage 13 def: "Stage 13 begins at the completion of germ-band retraction, when the prospective anal plate occupy the posterior pole. The dorsal ridge becomes apparent externally; the clypeolabrum retracts, leaving a triangular shaped gap at the anterior pole; the labium moves to the ventral midline. This stage ends when head involution begins. Duration at 25 degrees C: Approximately 60 minutes (560-620 minutes after egg laying)." [] comment: Temporal ordering number - 340. xref: FBdv:00005328 is_a: EFO:0005859 ! Drosophila embryo stage property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005874 name: embryonic stage 14 def: "Stage 14 begins with the initiation of head involution. Closure of the midgut around the yolk and dorsal closure continue. Dorsal closure is 80% complete by the end of this stage. This stage ends with the appearance of the second midgut constriction. Duration at 25 degrees C: approximately 60 minutes (620-680 minutes after egg laying)" [] comment: Temporal ordering number - 350. xref: FBdv:00005330 is_a: EFO:0005859 ! Drosophila embryo stage property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005875 name: embryonic stage 15 def: "Stage 15 begins with the appearance of the second midgut constriction. During this stage the 1st and 3rd midgut constrictions form, dorsal closure is completed, and epidermal segmentation is accomplished. This stage ends when the intersegmental grooves can be distinguished at mid-dorsal level. Duration at 25 degrees C: approximately 100 minutes (680-780 minutes after egg laying)." [] comment: Temporal ordering number - 360. xref: FBdv:00005332 is_a: EFO:0005859 ! Drosophila embryo stage property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005876 name: embryonic stage 16 def: "Stage 16 begins when the intersegmental grooves can be distinguished at mid-dorsal level, and ends when the dorsal ridge (frontal sac) has overgrown the tip of the cylpeolabrum, which is thereby enclosed in the atrium. During this stage the ventral cord retracts to about 60% egg length. Duration at 25 degrees C: approximately 180 minutes (780-960 minutes after egg laying)." [] comment: Temporal ordering number - 380. xref: FBdv:00005334 is_a: EFO:0005859 ! Drosophila embryo stage property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005877 name: embryonic stage 17 def: "Stage 17 begins when the dorsal ridge (frontal sac) has overgrown the tip of the cylpeolabrum, which is thereby enclosed in the atrium. It lasts until hatching of the embryo (approximately 24 hours after egg laying), during which time much terminal differentiation occurs, the tracheal tree fills with air, so becoming completely visible, and the ventral cord continues to retract. Duration at 25 degrees C: approximately 8 hours (16-24 hours after egg laying)." [] comment: Temporal ordering number - 390. xref: FBdv:00005335 is_a: EFO:0005859 ! Drosophila embryo stage property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005878 name: vitamin deficiency def: "A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency." [] synonym: "Avitaminosis" EXACT [] synonym: "Hypovitaminosis" EXACT [] synonym: "Vitamin deficiency (disorder)" EXACT [] synonym: "Vitamin Deficiency Disorder" EXACT [] xref: ICD10:E56 xref: MedDRA:10047628 xref: MeSH:D001361 xref: NCIt:C34406 xref: NCIt:C35772 xref: SNOMEDCT:85670002 is_a: HP:0100508 ! Abnormality of vitamin metabolism property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005879 name: cholesterol homeostasis def: "Any process involved in the maintenance of an internal steady state of cholesterol within an organism or cell." [] xref: GO:0042632 xref: NCIt:C29885 is_a: EFO:0005880 ! lipid homeostasis property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005880 name: lipid homeostasis def: "Any process involved in the maintenance of an internal steady state of lipid within an organism or cell." [] xref: GO:0055088 is_a: GO:0042592 ! homeostatic process property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005881 name: triglyceride homeostasis def: "Any process involved in the maintenance of an internal steady state of triglyceride within an organism or cell." [] xref: GO:0070328 is_a: EFO:0005880 ! lipid homeostasis property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005882 name: iron ion homeostasis def: "Any process involved in the maintenance of an internal steady state of iron ions within an organism or cell." [] synonym: "iron homeostasis" EXACT [] xref: GO:0055072 is_a: GO:0042592 ! homeostatic process property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005883 name: obsolete_atrial appendage property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0006618 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0006618 [Term] id: EFO:0005884 name: obsolete_right atrium property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://purl.obolibrary.org/obo/UBERON_0002078 instead." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002078 [Term] id: EFO:0005885 name: obsolete_left atrium def: "The left atrium receives oxygenated blood back from the lungs and pumps it down into the left ventricle for relatively high-pressure delivery to the body." [] xref: BTO:0001702 xref: NCIt:C12869 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with UBERON_0002079" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002079 [Term] id: EFO:0005890 name: osteoarthritis biomarker measurement def: "osteoarthritis biomarkers, such as serum cartilage oligomeric protein (sCOMP) and urinary C-telopeptide of type II collagen (uCTX-II), are used as indicators for osteoarthritis screening and as predictors for therapeutic responses and prognoses in patients" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005891 name: obsolete_renal cortex def: "The renal cortex is the outer portion of the kidney between the renal capsule and the renal medulla. In the adult, it forms a continuous smooth outer zone with a number of projections (cortical columns) that extend down between the pyramids. It contains the renal corpuscles and the renal tubules except for parts of the loop of Henle which descend into the renal medulla. It also contains blood vessels and cortical collecting ducts. The renal cortex is the part of the kidney where ultrafiltration occurs. Erythropoietin is produced in the renal cortex." [] synonym: "Cortical" EXACT [] synonym: "Cortical Portion of Kidney" EXACT [] synonym: "Cortical Portion of the Kidney" EXACT [] synonym: "KIDNEY, CORTEX" EXACT [] xref: BTO:0001166 xref: NCIt:C12739 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.64" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use UBERON_0001225 instead" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001225 [Term] id: EFO:0005895 name: ossification of the posterior longitudinal ligament of the spine def: "A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms." [NCIT:P378] synonym: "OPLL" EXACT ABBREVIATION [DOID:0060887, MONDO:Lexical, OMIM:602475] synonym: "Ossification of Posterior Longitudinal Ligament" EXACT [] synonym: "ossification of Posterior longitudinal ligament" EXACT [NCIT:C84975] synonym: "ossification of the POSTERIOR longitudinal ligament of spine" RELATED [MONDO:Lexical, OMIM:602475] synonym: "ossification of the posterior longitudinal ligament of the spine" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0060887 {source="MONDO:equivalentTo"} xref: MESH:C537143 {source="EFO:0005895", source="MONDO:equivalentTo"} xref: MeSH:C537143 xref: MONDO:0011230 xref: NCIT:C84975 {source="EFO:0005895", source="MONDO:equivalentTo"} xref: NCIt:C84975 xref: OMIM:602475 {source="EFO:0005895", source="MONDO:equivalentTo", source="DOID:0060887"} xref: SCTID:90448008 {source="EFO:0005895", source="MONDO:equivalentTo"} xref: SNOMEDCT:90448008 xref: UMLS:C1865343 {source="OMIM:602475", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0002461 {source="EFO:0005895"} ! skeletal system disease is_a: MONDO:0023603 ! hereditary disorder of connective tissue property_value: exactMatch DOID:0060887 property_value: exactMatch http://identifiers.org/mesh/C537143 property_value: exactMatch http://identifiers.org/snomedct/90448008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865343 property_value: exactMatch https://omim.org/entry/602475 property_value: exactMatch NCIT:C84975 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005896 name: obsolete_gastroesophageal junction def: "The junction between the stomach and the esophagus; the place where the esophagus connects to the stomach." [] synonym: "Esophagogastric junction" EXACT [] synonym: "Gastro-esophageal junction" EXACT [] synonym: "Gastro-oesophageal junction" EXACT [] synonym: "Gastrooesophageal junction" EXACT [] synonym: "Oesophagogastric junction" EXACT [] xref: BTO:0004364 xref: MeSH:D004943 xref: NCIt:C32668 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with UBERON_0007650" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0007650 [Term] id: EFO:0005900 name: obsolete_auxin xref: SNOMEDCT:28539009 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.48.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication.\n\nUse: http://purl.obolibrary.org/obo/CHEBI_22676" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/CHEBI_22676 [Term] id: EFO:0005901 name: ELF-1 def: "Human embryonic stem cell line ELF-1 was derived from a human embryo in the Ellison Stem Cell Core at the University of Washington, Seattle, WA." [] synonym: "ELF-1 cell" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0003040 ! embryonic cell line is_a: EFO:0005738 ! ESC derived cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000383 ! has_quality female relationship: RO:0001000 CL:0000034 ! derives_from stem cell property_value: definition:citation https://www.wicell.org/home/stem-cells/catalog-of-stem-cell-lines/elf1.cmsx?closable=true xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005903 name: KBM-7 def: "KBM-7 cells were derived from a 39-year-old man with chronic myeloid leukemia in blast crisis. The original cell line contained both near haploid and hyperdiploid clones. Subsequent subcloning yielded a pure near-haploid cell line.Genome analysis has revealed that besides the disomic chromosome 8 also a 30 megabase fragment of chromosome 15 is present in two copies. Like other CML cells lines (e.g., K562) KBM-7 cells are positive for the Philadelphia chromosome harboring the BCR-ABL oncogenic fusion. KBM-7 cells have been reprogrammed to yield the HAP1 cell line which is also haploid for chromosome 8." [] xref: PMID:3466682 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0005294 ! chronic myelogenous leukemia cell line relationship: has_characteristic EFO:0000339 ! chronic myelogenous leukemia relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005904 name: H7-hESC def: "Undifferentiated embryonic stem cells" [] synonym: "H7" EXACT [] synonym: "H7 cell" EXACT [] synonym: "H7-ES" EXACT [] synonym: "WA07" EXACT [] xref: https://www.wicell.org/home/stem-cells/catalog-of-stem-cell-lines/wa07.cmsx?closable=true xref: NCIt:C20309 xref: PMID:9804556 xref: SNOMEDCT:264834000 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0003040 ! embryonic cell line is_a: EFO:0005738 ! ESC derived cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005905 name: obsolete_Oci-Ly-7 synonym: "Oci-Ly-7 cell" EXACT [] xref: PMID:11807979 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.65" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : EFO_0006711 label : OCI-LY7" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Established from the peripheral blood sample of a 48-year-old man with B-cell Non-Hodgkin lymphoma (B-NHL, diffuse large cell lymphoma, DLCL, stage 2A, at relapse) in 1984." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0006711 [Term] id: EFO:0005906 name: B-cell non-Hodgkin lymphoma cell line def: "non-Hodgkin lymphoma derived cell lines" [] is_a: EFO:0001639 ! cancer cell line property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005907 name: OCI-LY1 def: "Established from the bone marrow of a 44-year-old man with B-cell Non-Hodgkin lymphoma (B-NHL; diffuse large cell), stage 4B at relapse in 1983." [] xref: PMID:11807979 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0005906 ! B-cell non-Hodgkin lymphoma cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000384 ! has_quality male relationship: RO:0001000 UBERON:0002371 ! derives_from bone marrow property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005908 name: obsolete_Oci-Ly-3 def: "Oci-Ly-3- Immortalized diffuse large B cell lymphoma cell line developed at the Ontario Cancer Institute." [] synonym: "Oci-Ly-3 cell" EXACT [] xref: PMID:11807979 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.65" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : EFO_0006710 label : OCI-LY3" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0006710 [Term] id: EFO:0005909 name: HGADFN167 def: "Dermal fibroblasts from an 8 year old male with Hutchinson-Gilford progeria syndrome (cell line HGPS, HGADFN167, progeria research foundation)." [] synonym: "HGADFN167 cell" EXACT [] synonym: "HGPS" EXACT [] synonym: "HGPS cell" EXACT [] xref: PMID:23027899 is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line relationship: has_characteristic MONDO:0008310 ! Hutchinson-Gilford progeria syndrome relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000384 ! has_quality male relationship: RO:0001000 UBERON:0002067 ! derives_from dermis property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005910 name: ES-D3 def: "The clonal embryonic stem cell line ES-D3 was derived from blastocysts of a male 129S2/SvPas strain mouse. The cells spontaneously differentiate into embryonic structures in the absence of a feeder layer or conditioned medium." [] synonym: "ATCC CRL-1934" EXACT [] synonym: "D3" EXACT [] synonym: "D3 cell" EXACT [] synonym: "ES-D3 cell" EXACT [] xref: ATCC:CRL-1934 xref: PMID: 3897439 is_a: EFO:0002887 ! mouse cell line is_a: EFO:0002926 ! ENCODE cell line is_a: EFO:0003040 ! embryonic cell line is_a: EFO:0005738 ! ESC derived cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000384 ! has_quality male relationship: RO:0001000 UBERON:0000358 ! derives_from blastocyst property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005912 name: hTERT-HM def: "An immortalized cell line from hTERT-infected myometrial cells (hTERT-HM). Cells were isolated from myometrial tissue obtained from women undergoing hysterectomy, and retroviral infection was used to express the catalytic subunit of telomerase in myometrial cells." [] synonym: "myometrial cells" EXACT [] xref: PMID:12135889 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000383 ! has_quality female relationship: RO:0001000 UBERON:0001296 ! derives_from myometrium [Term] id: EFO:0005913 name: urothelium cell line def: "Primary ureter cell culture of urothelial cells derived from a 12 year-old girl and immortalized by transfection with a temperature-sensitive SV-40 large T antigen gene." [] synonym: "human ureter cell" EXACT [] synonym: "urothelial cell" EXACT [] synonym: "UROtsa cell" EXACT [] xref: NCIt:C33841 xref: PMID: 8788275 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002926 ! ENCODE cell line relationship: OBI:0000295 EFO:0002925 ! is_specified_input_of ENCODE functional genome mapping relationship: RO:0000086 PATO:0000383 ! has_quality female relationship: RO:0001000 UBERON:0000365 ! derives_from urothelium property_value: definition:citation "PMCID: PMC1240407" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005914 name: ZHBTc4-mESC def: "ZHBTc4 undifferentiated mouse embryonic stem cells originated from a male mouse of the 129/Ola strain, and received as frozen ampoules from D. Levasseur (University of Iowa). These cells lack functional endogenous Oct4 alleles and harbor a regulatable Oct4 transgene." [] synonym: "ZHBTc4" EXACT [] synonym: "ZHBTc4 cell" EXACT [] synonym: "ZHBTc4 ES" EXACT [] synonym: "ZHBTc4 ES cell" EXACT [] xref: http://genome.ucsc.edu/ENCODE/protocols/cell/mouse/ZhBTc4_Stam_protocol.pdf is_a: EFO:0002887 ! mouse cell line is_a: EFO:0003040 ! embryonic cell line is_a: EFO:0005738 ! ESC derived cell line relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation PMCID:PMC2259027 xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005915 name: WW6 def: "Embryonic stem cells isolated from mix of ~20% C57/B6J, ~75% 129/Sv and ~5% SJL all male strains." [] synonym: "WW6 cell" EXACT [] xref: PMID:7638196 is_a: EFO:0002887 ! mouse cell line is_a: EFO:0003040 ! embryonic cell line is_a: EFO:0005738 ! ESC derived cell line relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005916 name: ES-CJ7 def: "Undifferentiated embryonic stem cells were originally isolated from 129S1/SVImJ strain mice by Swiatek PJ et al. in 1993." [] synonym: "CJ7 cell" EXACT [] synonym: "ES-CJ7 cell" EXACT [] xref: http://genome.ucsc.edu/ENCODE/protocols/cell/mouse/ES-CJ7_Stam_protocol.pdf xref: PMID:8224839 is_a: EFO:0002887 ! mouse cell line is_a: EFO:0003040 ! embryonic cell line is_a: EFO:0005738 ! ESC derived cell line relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005917 name: generalised epilepsy def: "A chronic condition characterized by recurrent generalized seizures." [NCIT:P378] def: "An epilepsy syndrome that is characterised by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain" [] synonym: "EIG" EXACT ABBREVIATION [MONDO:cjm] synonym: "epilepsy, idiopathic generalized" EXACT [] {comment="preferred label from MONDO"} synonym: "epilepsy, idiopathic generalized" EXACT [MONDO:Lexical, OMIM:600669] synonym: "generalised epilepsy" EXACT OMO:0003005 [] synonym: "generalized epilepsy" EXACT [DOID:1827, NCIT:C3021] synonym: "idiopathic generalised epilepsy" EXACT OMO:0003005 [] synonym: "idiopathic generalized epilepsy" EXACT [DOID:1827, OMIM:600669] xref: DOID:1827 {source="MONDO:equivalentTo", source="EFO:0005917"} xref: MESH:C562694 {source="MONDO:equivalentTo"} xref: MONDO:0005579 xref: NCIT:C3021 {source="MONDO:equivalentTo", source="DOID:1827"} xref: OMIM:600669 {source="MONDO:equivalentTo", source="DOID:1827"} xref: OMIM:612899 xref: OMIM:614847 xref: OMIM:616685 xref: OMIM:618357 xref: OMIM:618596 xref: OMIMPS:600669 {source="MONDO:equivalentTo"} xref: SCTID:19598007 {source="MONDO:equivalentTo", source="DOID:1827"} is_a: MONDO:0015653 ! monogenic epilepsy is_a: MONDO:0700007 ! idiopathic disease intersection_of: EFO:0000474 ! epilepsy intersection_of: has_characteristic MONDO:0700005 ! idiopathic property_value: exactMatch DOID:1827 property_value: exactMatch http://identifiers.org/mesh/C562694 property_value: exactMatch http://identifiers.org/snomedct/19598007 property_value: exactMatch https://omim.org/entry/600669 property_value: exactMatch https://omim.org/phenotypicSeries/PS600669 property_value: exactMatch NCIT:C3021 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2543 xsd:anyURI [Term] id: EFO:0005918 name: osteoprotegerin measurement def: "quantification of osteoprotegerin in a sample" [] synonym: "OPG measurement" EXACT [] synonym: "Osteoclastogenesis Inhibitory Factor measurement" EXACT [] synonym: "TNFRS11B measurement" EXACT [] synonym: "Tumor Necrosis Factor Receptor Superfamily Member 11b measurement" EXACT [] xref: NCIt:C116206 is_a: EFO:0004747 ! protein measurement is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease property_value: definition:citation http://atvb.ahajournals.org/content/30/9/1684.full xsd:string property_value: definition:citation http://europepmc.org/abstract/MED/25080503 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005919 name: recombination measurement def: "quantification of any recombination-related factor, such as hotspot usage, African enchrichment and recombination rate" [] is_a: EFO:0004554 ! genomic measurement relationship: IAO:0000136 EFO:0004293 ! is_about recombination relationship: IAO:0000136 EFO:0004420 ! is_about genome property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005921 name: FEV change measurement def: "quantification of the rate of change in FEV of an individual over the course of time, used as an indicator of improvement or decay of pulmonary function" [] synonym: "FEV1 change measurement" EXACT [] is_a: EFO:0003892 ! pulmonary function measurement is_a: EFO:0006841 ! respiratory disease biomarker relationship: IAO:0000136 EFO:0000684 ! is_about respiratory system disease relationship: IAO:0000136 UBERON:0001004 ! is_about respiratory system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0005922 name: esophageal squamous cell carcinoma def: "Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC) that can affect any part of the esophagus, but is usually located in the upper or middle third." [Orphanet:99977] subset: ordo_disease {source="Orphanet:99977"} synonym: "ESCC" EXACT ABBREVIATION [NCIT:C4024, ONCOTREE:ESCC, Orphanet:99977] synonym: "esophageal epidermoid carcinoma" EXACT [NCIT:C4024, Orphanet:99977] synonym: "esophageal scc" EXACT [NCIT:C4024] synonym: "esophageal squamous cell cancer" EXACT [NCIT:C4024] synonym: "esophageal squamous cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "esophageal squamous cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "esophageal squamous cell carcinoma" EXACT [NCIT:C4024, Orphanet:99977] synonym: "esophagus scc" EXACT [NCIT:C4024] synonym: "esophagus squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C4024] synonym: "oesophagus scc" EXACT OMO:0003005 [] synonym: "oesophagus squamous cell carcinoma" EXACT OMO:0003005 [] synonym: "scc of esophagus" EXACT [DOID:3748, NCIT:C4024] synonym: "scc of oesophagus" EXACT OMO:0003005 [] synonym: "scc of the esophagus" EXACT [NCIT:C4024] synonym: "scc of the oesophagus" EXACT OMO:0003005 [] synonym: "squamous cell car. - esophagus" EXACT [NCIT:C4024] synonym: "squamous cell car. - oesophagus" EXACT OMO:0003005 [] synonym: "squamous cell carcinoma of esophagus" EXACT [DOID:3748, NCIT:C4024] synonym: "squamous cell carcinoma of oesophagus" EXACT OMO:0003005 [] synonym: "squamous cell carcinoma of the esophagus" EXACT [NCIT:C4024] synonym: "squamous cell carcinoma of the oesophagus" EXACT OMO:0003005 [] xref: DOID:3748 {source="EFO:0005922", source="MONDO:equivalentTo"} xref: EFO:0005922 {source="MONDO:equivalentTo"} xref: ICD10:C15.0 {source="Orphanet:99977", source="ORDO:99977/btnt"} xref: ICD10:C15.1 {source="Orphanet:99977", source="ORDO:99977/btnt"} xref: ICD10:C15.3 {source="Orphanet:99977", source="ORDO:99977/btnt"} xref: ICD10:C15.4 {source="Orphanet:99977", source="ORDO:99977/btnt"} xref: MESH:C562729 {source="EFO:0005922", source="MONDO:equivalentTo", source="DOID:3748"} xref: MESH:D000077277 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: MESH:D000077277 {source="EFO:0005922", source="MONDO:equivalentTo", source="DOID:3748"} xref: MONDO:0005580 xref: NCIT:C4024 {source="EFO:0005922", source="MONDO:equivalentTo", source="DOID:3748", source="exact-label-match"} xref: NCIT:C4024 {source="EFO:0005922", source="MONDO:equivalentTo", source="DOID:3748", source="MONDO:exact-label-match"} xref: OMIM:133239 xref: ONCOTREE:ESCC {source="MONDO:equivalentTo"} xref: Orphanet:99977 {source="MONDO:equivalentTo"} xref: SCTID:276804009 {source="MONDO:equivalentTo", source="DOID:3748"} xref: UMLS:C0279626 {source="Orphanet:99977", source="EFO:0005922", source="MONDO:equivalentTo", source="NCIT:C4024", source="DOID:3748"} is_a: EFO:0000707 {source="DOID:3748", source="EFO:0005922", source="MESH:C562729", source="MONDO:Redundant", source="NCIT:C4024"} ! squamous cell carcinoma is_a: EFO:0002916 {source="DOID:3748", source="EFO:0005922", source="MONDO:Redundant", source="NCIT:C4024", source="Orphanet:99977"} ! esophageal carcinoma relationship: EFO:0000784 UBERON:0001043 ! has_disease_location esophagus property_value: exactMatch DOID:3748 property_value: exactMatch DOID:3748 property_value: exactMatch http://identifiers.org/mesh/C562729 property_value: exactMatch http://identifiers.org/mesh/D000077277 property_value: exactMatch http://identifiers.org/mesh/D000077277 property_value: exactMatch http://identifiers.org/snomedct/276804009 property_value: exactMatch http://identifiers.org/snomedct/276804009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279626 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279626 property_value: exactMatch NCIT:C4024 property_value: exactMatch NCIT:C4024 property_value: exactMatch Orphanet:99977 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/squamous_cell_carcinoma.yaml [Term] id: EFO:0005923 name: AVL induced bursal lymphoma def: "Malignant lymphoma of the bursa of Fabricius, induced by avian leukosis virus occuring in birds." [EFO:0005923] synonym: "avian leukosis virus induced bursal lymphoma" EXACT [] synonym: "AVL induced bursal lymphoma" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0005581 is_a: MONDO:0024905 ! bird disease is_a: MONDO:0700102 ! lymphoma, non-human animal relationship: only_in_taxon NCBITaxon:9031 ! Gallus gallus property_value: definition:citation "Neimann et al (1980) Journal of Viroligy 34: 178-186, " xsd:string [Term] id: EFO:0005924 name: binge eating def: "binge eating with or without purging" [] def: "Recurrent episodes of over-eating." [NCIT:C97162] synonym: "binge eating" EXACT [NCIT:C97162] synonym: "binge eating disorder" EXACT [] {comment="preferred label from MONDO"} xref: MedDRA:10004716 xref: MESH:D002032 {source="MONDO:equivalentTo"} xref: MONDO:0005582 xref: NCIT:C97162 {source="MONDO:equivalentTo", source="EFO:0005924"} xref: NCIt:C97162 xref: SCTID:439960005 {source="MONDO:equivalentTo"} is_a: EFO:0005203 {source="EFO:0005924", source="NCIT:C97162"} ! eating disorder property_value: exactMatch http://identifiers.org/mesh/D002032 property_value: exactMatch http://identifiers.org/snomedct/439960005 property_value: exactMatch NCIT:C97162 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0005932 name: animal disease def: "A disease that occurs in animals." [EFO:0005932] synonym: "animal disease" EXACT [MESH:D000820] synonym: "diseases, animal" EXACT [MESH:D000820] synonym: "non-human animal disease" EXACT [] {comment="preferred label from MONDO"} xref: MESH:D000820 {source="MONDO:equivalentTo"} xref: MONDO:0005583 xref: UMLS:C0003047 {source="MONDO:equivalentTo"} is_a: EFO:0000408 {source="EFO:0005932"} ! disease relationship: never_in_taxon NCBITaxon:9606 ! Homo sapiens property_value: exactMatch http://identifiers.org/mesh/D000820 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003047 property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0005934 name: disease cell type is_a: EFO:0000324 ! cell type intersection_of: EFO:0000324 ! cell type intersection_of: has_characteristic EFO:0000408 ! disease [Term] id: EFO:0005935 name: overweight body mass index status def: "quantification of weight/height relationships above a certain threshold that classes an individual as overweight. This threshold may vary based on an individual's ethnicity but is commonly considered to correspond in European populations to a 251. " [] synonym: "PAE" EXACT [] xref: PMID:25101718 is_a: EFO:0003765 ! sign or symptom relationship: EFO:0006351 EFO:0006348 ! has_about_it pulmonary artery-aorta diameter ratio measurement relationship: IAO:0000136 UBERON:0000947 ! is_about aorta relationship: IAO:0000136 UBERON:0002012 ! is_about pulmonary artery relationship: IAO:0000136 UBERON:0004535 ! is_about cardiovascular system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006348 name: pulmonary artery-aorta diameter ratio measurement def: "The ratio of the diameter of the pulmonary artery to the diameter of the aorta (PA/A) as measured using CT." [] synonym: "PA/A" EXACT [] xref: PMID:25101718 is_a: EFO:0006841 ! respiratory disease biomarker is_a: EFO:0020865 ! aortic measurement relationship: IAO:0000136 UBERON:0000947 ! is_about aorta relationship: IAO:0000136 UBERON:0002012 ! is_about pulmonary artery relationship: IAO:0000136 UBERON:0004535 ! is_about cardiovascular system property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006352 name: laryngeal squamous cell carcinoma def: "A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx." [NCIT:C4044] subset: ordo_disease synonym: "epidermoid carcinoma of larynx" EXACT [NCIT:C4044] synonym: "epidermoid carcinoma of the larynx" EXACT [DOID:2876, NCIT:C4044] synonym: "laryngeal epidermoid carcinoma" EXACT [NCIT:C4044] synonym: "laryngeal squamous cell carcinoma" EXACT [NCIT:C4044] synonym: "laryngeal squamous cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "laryngeal squamous cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "laryngeal throat squamous cell cancer" EXACT [NCIT:C4044] synonym: "larynx epidermoid carcinoma" EXACT [NCIT:C4044] synonym: "larynx squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C4044] synonym: "LSCC" EXACT [] synonym: "LXSC" RELATED ABBREVIATION [ONCOTREE:LXSC] synonym: "squamous cell carcinoma of larynx" EXACT [NCIT:C4044] synonym: "squamous cell carcinoma of the larynx" EXACT [NCIT:C4044] xref: DOID:2876 {source="MONDO:equivalentTo", source="EFO:0006352"} xref: EFO:0006352 {source="MONDO:equivalentTo"} xref: MONDO:0005595 xref: NCIT:C4044 {source="MONDO:equivalentTo", source="DOID:2876", source="MONDO:exact-label-match", source="EFO:0006352"} xref: NCIT:C4044 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:2876", source="EFO:0006352", source="exact-label-match"} xref: ONCOTREE:LXSC {source="MONDO:equivalentTo"} xref: Orphanet:494550 {source="MONDO:equivalentTo"} xref: SCTID:405822008 {source="MONDO:equivalentTo", source="DOID:2876", source="EFO:0006352"} xref: UMLS:C0280324 {source="NCIT:C4044", source="MONDO:equivalentTo", source="DOID:2876"} is_a: EFO:0000181 {source="EFO:0006352", source="NCIT:C4044", source="ONCOTREE:LXSC"} ! head and neck squamous cell carcinoma is_a: MONDO:0002358 {source="DOID:2876", source="MONDO:Redundant", source="NCIT:C4044"} ! laryngeal carcinoma property_value: closeMatch http://identifiers.org/snomedct/707358000 property_value: exactMatch DOID:2876 property_value: exactMatch DOID:2876 property_value: exactMatch http://identifiers.org/snomedct/405822008 property_value: exactMatch http://identifiers.org/snomedct/405822008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280324 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280324 property_value: exactMatch NCIT:C4044 property_value: exactMatch NCIT:C4044 property_value: exactMatch Orphanet:494550 property_value: excluded_subClassOf MONDO:0020035 {source="Orphanet:494550"} property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/squamous_cell_carcinoma.yaml [Term] id: EFO:0006354 name: 105KC def: "Human chondrosarcoma cell line." [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000333 ! chondrosarcoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation "PMID: 2045389" xsd:string [Term] id: EFO:0006355 name: 143B def: "Human osteosarcoma cell line. ATCC catalog number CRL-8308" [] synonym: "GM05887" EXACT [] synonym: "GM05887A" EXACT [] synonym: "HOS-143b" EXACT [] xref: BTO:0003167 xref: CLO:0001088 xref: RRID:CVCL_2270 is_a: BTO:0000407 ! osteosarcoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000637 ! osteosarcoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.atcc.org/products/all/CRL-8303.aspx xsd:string [Term] id: EFO:0006356 name: 501A def: "Human melanoma cell line" [] synonym: "mel501a" EXACT [] is_a: BTO:0000849 ! melanoma cell line relationship: has_characteristic EFO:0000756 ! melanoma property_value: definition:citation "PMID: 25485619" xsd:string [Term] id: EFO:0006357 name: 537 MEL def: "Human melanoma cell line" [] synonym: "537-mel" EXACT [] is_a: BTO:0000849 ! melanoma cell line relationship: has_characteristic EFO:0000756 ! melanoma property_value: definition:citation "PMID: 25485619" xsd:string [Term] id: EFO:0006358 name: 59M def: "Human ovarian carcinoma cell line. (Sigma-Aldrich catalog number 89081802)" [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002394 ! ovarian cancer cell lines is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0001075 ! ovarian carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/89081802 xsd:string [Term] id: EFO:0006359 name: 624 mel def: "Human melanoma cell line" [] synonym: "624-mel" EXACT [] is_a: BTO:0000849 ! melanoma cell line relationship: has_characteristic EFO:0000756 ! melanoma property_value: definition:citation "PMID: 25485619" xsd:string [Term] id: EFO:0006360 name: 928 mel def: "Human melanoma cell line" [] synonym: "928-mel" EXACT [] is_a: BTO:0000849 ! melanoma cell line relationship: has_characteristic EFO:0000756 ! melanoma property_value: definition:citation "PMID: 25485619" xsd:string [Term] id: EFO:0006361 name: A2058 def: "Human melanoma cell line from 43-year-old male patient. ATCC catalog number CRL-11147." [] xref: BTO:0002975 xref: CLO:0001566 xref: RRID:CVCL_1059 is_a: BTO:0000849 ! melanoma cell line relationship: has_characteristic EFO:0000756 ! melanoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.atcc.org/products/all/CRL-11147.aspx xsd:string [Term] id: EFO:0006362 name: A2780 def: "Human ovarian carcinoma cell line. (Sigma-Aldrich catalog number 93112519)" [] is_a: EFO:0002394 ! ovarian cancer cell lines relationship: has_characteristic EFO:0001075 ! ovarian carcinoma property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/93112519 xsd:string [Term] id: EFO:0006363 name: C170 def: "Human colorectal carcinoma cell line" [] is_a: BTO:0001616 ! colorectal cancer cell line relationship: has_characteristic MONDO:0005575 ! colorectal cancer property_value: definition:citation "PMID: 25485619" xsd:string [Term] id: EFO:0006364 name: C32 def: "Human melanoma cell line. ATCC catalog number CRL-1585" [] is_a: BTO:0000849 ! melanoma cell line relationship: has_characteristic EFO:0000756 ! melanoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.atcc.org/products/all/CRL-1585.aspx xsd:string [Term] id: EFO:0006365 name: C4-2B def: "Human prostate cancer cell line derived from subcutaneous LNCaP xenografts in castrated nude mice." [] is_a: BTO:0001033 ! prostate cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002891 ! prostate derived cell line relationship: has_characteristic EFO:0001663 ! prostate carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation "PMID: 8169003" xsd:string [Term] id: EFO:0006366 name: CAL 27 def: "Human squamous cell carcinoma cell line" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000707 ! squamous cell carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.atcc.org/products/all/CRL-2095.aspx xsd:string [Term] id: EFO:0006367 name: CI-1 def: "Human non-Hodgkin's lymphoma cell line (DSMZ catalog number ACC 570)" [] is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000574 ! lymphoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-570.html xsd:string [Term] id: EFO:0006368 name: CL-11 def: "Human colon carcinoma cell line (DSMZ catalog number ACC 467)" [] is_a: BTO:0001616 ! colorectal cancer cell line relationship: has_characteristic MONDO:0005575 ! colorectal cancer property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-467.html xsd:string [Term] id: EFO:0006369 name: CL-34 def: "Human colon carcinoma cell line (DSMZ catalog number ACC 520)" [] is_a: BTO:0001616 ! colorectal cancer cell line relationship: has_characteristic MONDO:0005575 ! colorectal cancer relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-520.html xsd:string [Term] id: EFO:0006370 name: CL-40 def: "Human colon carcinoma cell line (DSMZ catalog number ACC 535)" [] is_a: BTO:0001616 ! colorectal cancer cell line relationship: has_characteristic MONDO:0005575 ! colorectal cancer relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.dsmz.de/de/kataloge/catalogue/culture/ACC-535.html xsd:string [Term] id: EFO:0006371 name: COLO 678 def: "Human colon carcinoma cell line (DSMZ catalog number ACC 194)" [] synonym: "COLO-678" EXACT [] is_a: BTO:0001616 ! colorectal cancer cell line relationship: has_characteristic MONDO:0005575 ! colorectal cancer relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-194.html xsd:string [Term] id: EFO:0006372 name: COLO 679 def: "Human melanoma cell line (Sigma-Aldrich catalog number 87061210)" [] synonym: "COLO-679" EXACT [] is_a: BTO:0000849 ! melanoma cell line relationship: has_characteristic EFO:0000756 ! melanoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/87061210 xsd:string [Term] id: EFO:0006373 name: COLO 680N def: "Human squamous cell carcinoma cell line (DSMZ catalog number ACC 182)" [] synonym: "COLO-680N" EXACT [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000707 ! squamous cell carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.dsmz.de/de/kataloge/catalogue/culture/ACC-182.html xsd:string [Term] id: EFO:0006374 name: COLO 699 def: "Human lung adenocarcinoma cell line (DSMZ catalog number ACC196)" [] synonym: "COLO-699" EXACT [] is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-196.html xsd:string [Term] id: EFO:0006375 name: COLO 741 def: "Derived from a pelvic wall metastasis of a 69 year old female with colon carcinoma. (Sigma-Aldrich catalog number 93052621)" [] synonym: "COLO-783" EXACT [] is_a: BTO:0001616 ! colorectal cancer cell line relationship: has_characteristic MONDO:0005575 ! colorectal cancer relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/93052621 xsd:string [Term] id: EFO:0006376 name: COLO 783 def: "Human melanoma cell line (DSMZ catalog number ACC257)" [] synonym: "COLO-783" EXACT [] is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.dsmz.de/de/kataloge/catalogue/culture/ACC-257.html xsd:string [Term] id: EFO:0006377 name: COLO 792 def: "Derived from a brain metastasis of a 62 year old male with melanoma. The cells bleb during culture. (Sigma-Aldrich catalog number 93052616)" [] synonym: "COLO-792" EXACT [] is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/93052616 xsd:string [Term] id: EFO:0006378 name: COLO 800 def: "Derived from a subcutaneous nodule of a tumour from a 14-year-old male. Cells display remarkable blebbing. (Sigma-Aldrich catalog number 93051123)" [] synonym: "COLO 818" EXACT [] synonym: "COLO-800" EXACT [] synonym: "COLO-818" EXACT [] is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://en.wikipedia.org/wiki/List_of_contaminated_cell_lines xsd:string property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/93051123 xsd:string [Term] id: EFO:0006379 name: COLO 849 def: "derived in 1992 from right axillary lymph nodes of a 43-year-old Caucasian man with metastatic maligant melanoma (DSMZ catalog number ACC 216)" [] synonym: "COLO-849" EXACT [] is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-216.html xsd:string [Term] id: EFO:0006380 name: COLO 853 def: "Derived from the right axilla lymph node of a 43 year old male with melanoma. (Sigma-Aldrich catalog number 93052606)" [] synonym: "COLO-853" EXACT [] is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/93052606 xsd:string [Term] id: EFO:0006381 name: COLO 857 def: "Derived from a right axilla lymph node of a 43 year old male with melanoma. The biopsy material was obtained post chemotherapy. (Sigma-Aldrich catalog number 93051120)" [] synonym: "COLO-857" EXACT [] is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/93051120 xsd:string [Term] id: EFO:0006382 name: COV318 def: "A human ovarian epithelial-serous carcinoma cell line established from a peritoneal ascites. Anchorage-independent growth in agar has been reported. (Sigma-Aldrich catalog number 07071903)" [] is_a: EFO:0002394 ! ovarian cancer cell lines is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002917 ! ovarian serous adenocarcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/07071903 xsd:string [Term] id: EFO:0006383 name: COV362 def: "A human ovarian epithelial-endometroid carcinoma cell line established from a pleural effusion. Anchorage-independent growth in agar has been reported. (Sigma-Aldrich catalog number 07071910)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000466 ! endometrioid carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/07071910 xsd:string [Term] id: EFO:0006384 name: COV434 def: "Human ovarian granulosa tumour cell line established from a solid primary tumour (Sigma-Aldrich catalog number 07071909)" [] is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0006461 ! ovarian granulosa tumour relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/07071909 xsd:string [Term] id: EFO:0006385 name: COV504 def: "A human ovarian epithelial-serous carcinoma cell line established from a pleural effusion. Anchorage-independent growth in agar has been reported. (Sigma-Aldrich catalog number 07071902)" [] is_a: EFO:0002394 ! ovarian cancer cell lines is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002917 ! ovarian serous adenocarcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/07071902 xsd:string [Term] id: EFO:0006386 name: COV644 def: "Human ovarian epithelial-mucinous carcinoma cell line established from a solid primary tumour. Anchorage-independent growth in agar has been reported. (Sigma-Aldrich catalog number 07071908)" [] is_a: EFO:0002394 ! ovarian cancer cell lines is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0006462 ! ovarian mucinous adenocarcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/07071908 xsd:string [Term] id: EFO:0006387 name: cystadenocarcinoma def: "A malignant cystic epithelial neoplasm arising from the glandular epithelium. The malignant epithelial cells invade the stroma. The cystic spaces contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenocarcinomas." [NCIT:C2971] synonym: "cystadenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "cystadenocarcinoma" EXACT [NCIT:C2971] synonym: "cystadenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "cystadenocarcinoma (morphologic abnormality)" EXACT [DOID:3111] synonym: "cystadenocarcinoma NOS (morphologic abnormality)" EXACT [DOID:3111] synonym: "cystadenocarcinoma, malignant" EXACT [NCIT:C2971] xref: DOID:3111 {source="MONDO:equivalentTo", source="EFO:0006387"} xref: EFO:0006387 {source="MONDO:equivalentTo"} xref: ICDO:8440/3 {source="NCIT:C2971"} xref: MESH:D003536 {source="DOID:3111", source="MONDO:equivalentTo", source="EFO:0006387"} xref: MONDO:0005596 xref: NCIT:C2971 {source="DOID:3111", source="MONDO:equivalentTo", source="exact-label-match", source="EFO:0006387"} xref: NCIT:C2971 {source="DOID:3111", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:0006387"} xref: UMLS:C0010631 {source="DOID:3111", source="MONDO:equivalentTo", source="NCIT:C2971"} is_a: EFO:0000228 {source="DOID:3111", source="EFO:0006387", source="MESH:D003536", source="NCIT:C2971"} ! adenocarcinoma is_a: MONDO:0021077 {source="NCIT:C2971"} ! cystic neoplasm property_value: closeMatch http://identifiers.org/snomedct/189681005 property_value: closeMatch http://identifiers.org/snomedct/21008007 property_value: exactMatch DOID:3111 property_value: exactMatch DOID:3111 property_value: exactMatch http://identifiers.org/mesh/D003536 property_value: exactMatch http://identifiers.org/mesh/D003536 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010631 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010631 property_value: exactMatch NCIT:C2971 property_value: exactMatch NCIT:C2971 [Term] id: EFO:0006388 name: cystic renal cell carcinoma def: "Cystic renal cell carcinoma includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination. The clinical features of cystic renal cell carcinoma are similar to those which are solid. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of renal cell carcinoma which are predominantly solid. There are four basic pathologic mechanisms resulting in cystic renal cell carcinoma: intrinsic multiloculated growth; intrinsic unilocular growth (cystadenocarcinoma); cystic necrosis; and origin from the epithelial lining of a preexisting simple cyst. There are three basic radiologic patterns of cystic renal cell carcinoma: unilocular cystic mass, multiloculated cystic mass, and discrete mural nodule in a cystic mass. Cystic renal cell carcinoma is often extremely difficult to differentiate from non-neoplastic, benign neoplastic, and other malignant neoplastic masses utilizing radiologic studies alone. This review presents the clinical, pathologic, and radiographic features of cystic renal cell carcinoma and discusses its radiologic differential diagnosis." [EFO:0006388] synonym: "cystic renal cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "cystic renal cell carcinoma" EXACT [] {comment="preferred label from MONDO"} xref: EFO:0006388 {source="MONDO:equivalentTo"} xref: MONDO:0005597 xref: PMID:3739121 {source="EFO:0006388"} is_a: EFO:0000681 {source="EFO:0006388"} ! renal cell carcinoma [Term] id: EFO:0006389 name: DLD1 def: "Dukes' Type C, Colorectal Adenocarcinoma cell line. ATCC catalog number CCL-221" [] synonym: "CoCL3" EXACT [] synonym: "DLD-1" EXACT [] xref: BTO:0000391 xref: CLO:0002785 xref: RRID:CVCL_0248 is_a: BTO:0001616 ! colorectal cancer cell line is_a: BTO:0003250 ! colonic epithelium cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.atcc.org/Products/All/CCL-221.aspx xsd:string [Term] id: EFO:0006390 name: DMS 454 def: "The small cell carcinoma DMS 454 was isolated in 1981 from lung tissue of a male patient at time of autopsy. (Sigma-Aldrich catalog number 95062832)" [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000702 ! small cell lung carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/95062832 xsd:string [Term] id: EFO:0006391 name: dopaminergic neuroblastoma def: "A neuroblastoma associated with increased dopamine excretion." [EFO:0006391] def: "a neuroblastoma associated with increased dopamine excretion." [] synonym: "dopaminergic neuroblastoma" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0005598 xref: PMID:3385588 {source="EFO:0006391"} is_a: EFO:0000621 {source="EFO:0006391"} ! neuroblastoma property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0006392 name: FA6 def: "A woman with exocrine pancreatic cancer presented a syndrome of humoral hypercalcemia of malignancy. Supraclavicular lymph node was biopsied. The fragments of the biopsied specimen were transplanted and grown in athymic nude mice for several generations before being extracted and cultured." [] synonym: "FA-6" EXACT [] is_a: EFO:0001639 ! cancer cell line relationship: has_characteristic EFO:0002517 ! pancreatic ductal adenocarcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation "PMID: 2543550" xsd:string [Term] id: EFO:0006393 name: Farage def: "The Farage cell line was adapted to culture in 1990 from a lymph node biopsy of a patient with diffuse large cell non-Hodgkin's lymphoma (DLCL). (ATCC catalog number CRL-2630)" [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000574 ! lymphoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.atcc.org/products/all/CRL-2630.aspx xsd:string [Term] id: EFO:0006394 name: G-361 def: "Human malignant melanoma cell line (ATCC catalog number CRL-1424)" [] synonym: "G361-mel" EXACT [] synonym: "G361mel" EXACT [] xref: BTO:0001584 xref: CLO:0003433 xref: RRID:CVCL_1220 is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma property_value: definition:citation http://www.atcc.org/products/all/CRL-1424.aspx xsd:string [Term] id: EFO:0006395 name: G111 def: "Human glioma cell line" [] is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0005543 ! glioma property_value: definition:citation "PMID: 25485619" xsd:string [Term] id: EFO:0006396 name: G112 def: "Human glioma cell line" [] is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0005543 ! glioma property_value: definition:citation "PMID: 25485619" xsd:string [Term] id: EFO:0006397 name: G118 def: "Human glioma cell line" [] is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0005543 ! glioma property_value: definition:citation "PMID: 25485619" xsd:string [Term] id: EFO:0006398 name: G120 def: "Human glioma cell line" [] is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0005543 ! glioma property_value: definition:citation "PMID: 25485619" xsd:string [Term] id: EFO:0006399 name: G121 def: "Human glioma cell line" [] is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0005543 ! glioma property_value: definition:citation "PMID: 25485619" xsd:string [Term] id: EFO:0006400 name: G122 def: "Human glioma cell line" [] is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0005543 ! glioma property_value: definition:citation "PMID: 25485619" xsd:string [Term] id: EFO:0006401 name: G124 def: "Human glioma cell line" [] is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0005543 ! glioma property_value: definition:citation "PMID: 25485619" xsd:string [Term] id: EFO:0006402 name: G130 def: "Human glioma cell line" [] is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0005543 ! glioma property_value: definition:citation "PMID: 25485619" xsd:string [Term] id: EFO:0006403 name: G140 def: "Human glioma cell line" [] is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0005543 ! glioma property_value: definition:citation "PMID: 25485619" xsd:string [Term] id: EFO:0006404 name: G141 def: "Human glioma cell line" [] is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0005543 ! glioma property_value: definition:citation "PMID: 25485619" xsd:string [Term] id: EFO:0006405 name: G142 def: "Human glioma cell line" [] is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0005543 ! glioma property_value: definition:citation "PMID: 25485619" xsd:string [Term] id: EFO:0006406 name: G22 def: "Human glioma cell line" [] is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0005543 ! glioma property_value: definition:citation "PMID: 25485619" xsd:string [Term] id: EFO:0006407 name: G28T def: "Human glioma cell line" [] is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0005543 ! glioma property_value: definition:citation "PMID: 25485619" xsd:string [Term] id: EFO:0006408 name: G44 def: "Human glioma cell line" [] is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0005543 ! glioma property_value: definition:citation "PMID: 25485619" xsd:string [Term] id: EFO:0006409 name: G59 def: "Human glioma cell line" [] is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0005543 ! glioma property_value: definition:citation "PMID: 25485619" xsd:string [Term] id: EFO:0006410 name: G61 def: "Human glioma cell line" [] is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0005543 ! glioma property_value: definition:citation "PMID: 25485619" xsd:string [Term] id: EFO:0006411 name: G84 def: "Human glioma cell line" [] is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0005543 ! glioma property_value: definition:citation "PMID: 25485619" xsd:string [Term] id: EFO:0006412 name: G96 def: "Human glioma cell line" [] is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0005543 ! glioma property_value: definition:citation "PMID: 25485619" xsd:string [Term] id: EFO:0006413 name: obsolete_H322T def: "Human non small cell lung carcinoma cell line" [] property_value: definition:citation "PMID: 25485619" xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.65" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : EFO_0006691 label : NCI-H322T" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0006691 [Term] id: EFO:0006414 name: HC11 def: "a prolactin (PRL) responsive clone of the COMMA-1D mouse (Balb/c) mammary epithelial cell line" [] synonym: "HC-11" EXACT [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002887 ! mouse cell line relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation "PMID: 19523745" xsd:string [Term] id: EFO:0006415 name: HCA-7 def: "The human colon cancer cell line, HCA-7 Colony 29 expresses Cox-2. An interesting feature of this cell line is that it forms polarised epithelial sheets which allows examination of the trafficking and release of biomolecules in vitro. Cyclooxygenases (COXs) are key enzymes in the conversion of arachidonic acid to prostaglandins and other eicosanoids. It has been found that colonic polyps and cancers overexpress Cox-2 and that the inhibition of this enzyme by nonsteroidal anti-inflammatory drugs decreases the risk of colonic neoplasia. This cell line is useful for studying the role of Cox-2 in cancer cell biology and the investigation of colorectal epithelial cell polarity. Imperial College Innovations has stated that this cell line is not to be supplied to commercial organisations. (Sigma-Aldrich catalog number 02091238)" [] is_a: BTO:0001616 ! colorectal cancer cell line is_a: BTO:0003250 ! colonic epithelium cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic MONDO:0005575 ! colorectal cancer property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/02091238 xsd:string [Term] id: EFO:0006416 name: HCC0012 def: "Human renal cell carcinoma cell line from 45-year-old female patient" [] synonym: "HCC12" EXACT [] is_a: EFO:0001639 ! cancer cell line relationship: has_characteristic EFO:0000681 ! renal cell carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.utsouthwestern.edu/about-us/administrative-offices/technology-development/industry/human-cancer-cell-lines.html xsd:string [Term] id: EFO:0006417 name: HCC0033 def: "Human small cell lung carcinoma cell line from a 53-year-old Caucasian male patient" [] synonym: "HCC33" EXACT [] is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000702 ! small cell lung carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.utsouthwestern.edu/about-us/administrative-offices/technology-development/industry/human-cancer-cell-lines.html xsd:string [Term] id: EFO:0006418 name: HCC0060 def: "Human cystoadenocarcinoma cell line from a 26-year-old Black female patient" [] synonym: "HCC60" EXACT [] is_a: EFO:0001639 ! cancer cell line relationship: has_characteristic EFO:0006387 ! cystadenocarcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.utsouthwestern.edu/about-us/administrative-offices/technology-development/industry/human-cancer-cell-lines.html xsd:string [Term] id: EFO:0006419 name: HCC0089 def: "Human renal cell carcinoma cell line from a 64-year-old Caucasian female patient" [] synonym: "HCC89" EXACT [] is_a: EFO:0001639 ! cancer cell line relationship: has_characteristic EFO:0000681 ! renal cell carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.utsouthwestern.edu/about-us/administrative-offices/technology-development/industry/human-cancer-cell-lines.html xsd:string [Term] id: EFO:0006420 name: HCC0364 def: "Human lung adenocarcinoma cell line from a 76-year-old male patient" [] synonym: "HCC364" EXACT [] is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.utsouthwestern.edu/about-us/administrative-offices/technology-development/industry/human-cancer-cell-lines.html xsd:string [Term] id: EFO:0006421 name: HCC0630 def: "Human ovarian carcinoma cell line from a 32-year-old Hispanic female patient" [] synonym: "HCC630" EXACT [] is_a: EFO:0002394 ! ovarian cancer cell lines relationship: has_characteristic EFO:0001075 ! ovarian carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.utsouthwestern.edu/about-us/administrative-offices/technology-development/industry/human-cancer-cell-lines.html xsd:string [Term] id: EFO:0006422 name: HCC1011 def: "Human cystic renal cell carcinoma cell line from 37-year-old Hispanic male" [] is_a: EFO:0001639 ! cancer cell line relationship: has_characteristic EFO:0006388 ! cystic renal cell carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.utsouthwestern.edu/about-us/administrative-offices/technology-development/industry/human-cancer-cell-lines.html xsd:string [Term] id: EFO:0006423 name: HCC1162 def: "Human uterine adenocarcinoma cell line from 48-year-old Black female" [] is_a: EFO:0001639 ! cancer cell line relationship: has_characteristic EFO:0002919 ! uterine carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.utsouthwestern.edu/about-us/administrative-offices/technology-development/industry/human-cancer-cell-lines.html xsd:string [Term] id: EFO:0006424 name: HCC1263 def: "Human colorectal adenocarcinoma cell line from 20-year-old Black female" [] is_a: BTO:0001616 ! colorectal cancer cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.utsouthwestern.edu/about-us/administrative-offices/technology-development/industry/human-cancer-cell-lines.html xsd:string [Term] id: EFO:0006425 name: HCC1319 def: "Human renal cell carcinoma cell line from 68-year-old Caucasian male" [] is_a: EFO:0001639 ! cancer cell line relationship: has_characteristic EFO:0000681 ! renal cell carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.utsouthwestern.edu/about-us/administrative-offices/technology-development/industry/human-cancer-cell-lines.html xsd:string [Term] id: EFO:0006426 name: HCC1482 def: "Human uterine adenocarcinoma cell line from 62-year-old Caucasian female" [] is_a: EFO:0001639 ! cancer cell line relationship: has_characteristic EFO:0002919 ! uterine carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.utsouthwestern.edu/about-us/administrative-offices/technology-development/industry/human-cancer-cell-lines.html xsd:string [Term] id: EFO:0006427 name: HCC1493 def: "Human breast adenocarcinoma cell line from 43-year-old male patient" [] is_a: EFO:0005215 ! breast adenocarcinoma cell line relationship: has_characteristic EFO:0000304 ! breast adenocarcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.utsouthwestern.edu/about-us/administrative-offices/technology-development/industry/human-cancer-cell-lines.html xsd:string [Term] id: EFO:0006428 name: HCC1534 def: "Human lung adenocarcinoma cell line" [] is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: definition:citation http://www.utsouthwestern.edu/about-us/administrative-offices/technology-development/industry/human-cancer-cell-lines.html xsd:string [Term] id: EFO:0006429 name: HCC1576 def: "Human adrenal gland tumour cell line" [] is_a: CL:0000010 ! cultured cell relationship: has_characteristic EFO:0003850 ! adrenal gland neoplasm property_value: definition:citation http://www.utsouthwestern.edu/about-us/administrative-offices/technology-development/industry/human-cancer-cell-lines.html xsd:string [Term] id: EFO:0006430 name: HCC2270 def: "Human lung adenocarcinoma cell line from 64-year-old Caucasian female patient" [] is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.utsouthwestern.edu/about-us/administrative-offices/technology-development/industry/human-cancer-cell-lines.html xsd:string [Term] id: EFO:0006431 name: HCC2279 def: "Human lung adenocarcinoma cell line from 52-year-old Asian female patient" [] is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.utsouthwestern.edu/about-us/administrative-offices/technology-development/industry/human-cancer-cell-lines.html xsd:string [Term] id: EFO:0006432 name: HCC2302 def: "Human lung adenocarcinoma cell line" [] is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: definition:citation http://www.utsouthwestern.edu/about-us/administrative-offices/technology-development/industry/human-cancer-cell-lines.html xsd:string [Term] id: EFO:0006433 name: HCC2688 def: "Human breast ductal carcinoma cell line from a female patient" [] is_a: EFO:0005215 ! breast adenocarcinoma cell line relationship: has_characteristic EFO:0006318 ! breast ductal adenocarcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.utsouthwestern.edu/about-us/administrative-offices/technology-development/industry/human-cancer-cell-lines.html xsd:string [Term] id: EFO:0006434 name: HCC2885 def: "Human non small cell lung carcinoma cell line" [] is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0003060 ! non-small cell lung carcinoma property_value: definition:citation http://www.utsouthwestern.edu/about-us/administrative-offices/technology-development/industry/human-cancer-cell-lines.html xsd:string [Term] id: EFO:0006435 name: HCC2911 def: "Human breast carcinoma cell line" [] is_a: EFO:0002885 ! breast cancer cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: definition:citation "PMID: 25485619" xsd:string [Term] id: EFO:0006436 name: HCC4011 def: "Human lung adenocarcinoma cell line from a 53-year-old Caucasian male patient" [] is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.utsouthwestern.edu/about-us/administrative-offices/technology-development/industry/human-cancer-cell-lines.html xsd:string [Term] id: EFO:0006437 name: HCC4017 def: "Human non small cell lung carcinoma cell line from a 62-year-old Caucasian female patient" [] is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0003060 ! non-small cell lung carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.utsouthwestern.edu/about-us/administrative-offices/technology-development/industry/human-cancer-cell-lines.html xsd:string [Term] id: EFO:0006438 name: HEp-2 def: "Cells of this line contain HeLa marker chromosomes, and were derived via HeLa contamination. This line was originally thought to be derived from an epidermoid carcinoma of the larynx, but was subsequently found, based on isoenzyme analysis, HeLa marker chromosomes, and DNA fingerprinting, to have been established via HeLa cell contamination. The cells are positive for keratin by immunoperoxidase staining. ATCC confirmed this cell line is positive for the presence of human papilloma viral DNA sequences via PCR." [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005218 ! cervical carcinoma cell line relationship: has_characteristic EFO:0001061 ! cervical carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.utsouthwestern.edu/about-us/administrative-offices/technology-development/industry/human-cancer-cell-lines.html xsd:string [Term] id: EFO:0006439 name: HOP62 def: "Human non small cell lung carcinoma cell line" [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0003060 ! non-small cell lung carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation "PMID: 25485619" xsd:string [Term] id: EFO:0006440 name: HOP92 def: "Human large cell carcinoma cell line" [] is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0003050 ! large cell lung carcinoma property_value: definition:citation "PMID: 25485619" xsd:string [Term] id: EFO:0006441 name: Hs 683 def: "Human glioma cell line (ATCC catalog number HTB-138)" [] synonym: "Hs 683.T" EXACT [] synonym: "HS 683T" EXACT [] synonym: "Hs683T" EXACT [] xref: BTO:0002139 xref: CLO:0004046 xref: RRID:CVCL_0844 is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0005543 ! glioma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.atcc.org/products/all/HTB-138.aspx xsd:string [Term] id: EFO:0006442 name: HT115 def: "Human colon carcinoma cell line. Cells possess Ca antigen as defined by the Ca1 antibody. The Ca antigen has been shown to be absent in non-malignant human cell strains and is considered to be a marker linked with malignancy. Island cell growth will degenerate if left more than 9 days between passages. (Sigma-Aldrich catalog number 85061104)" [] synonym: "HT-115" EXACT [] is_a: BTO:0001616 ! colorectal cancer cell line is_a: BTO:0003250 ! colonic epithelium cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic MONDO:0005575 ! colorectal cancer property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/85061104 xsd:string [Term] id: EFO:0006443 name: HT144 def: "Human malignant melanoma cell line derived from metastatis in subcutaneous tissue from a 29-year-old male Caucasian patient. (ATCC catalog number HTB-63)" [] synonym: "HT-144" EXACT [] synonym: "HT144-mel" EXACT [] synonym: "HT144mel" EXACT [] xref: BTO:0001406 xref: CLO:0004280 xref: RRID:CVCL_0318 is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.atcc.org/products/all/HTB-63.aspx xsd:string [Term] id: EFO:0006444 name: HT55 def: "Human colon carcinoma cell line (Sigma-Aldrich catalog number 85061105)" [] synonym: "HT-55" EXACT [] is_a: BTO:0001616 ! colorectal cancer cell line is_a: BTO:0003250 ! colonic epithelium cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic MONDO:0005575 ! colorectal cancer property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/85061105 xsd:string [Term] id: EFO:0006445 name: huH-1 def: "Human hepatocellular carcinoma cell line" [] xref: BTO:0005773 xref: CLO:0009988 xref: RRID:CVCL_2956 is_a: EFO:0005216 ! hepatoma cell line relationship: has_characteristic EFO:0000182 ! hepatocellular carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://lincs.hms.harvard.edu/db/cells/50256/ xsd:string [Term] id: EFO:0006446 name: IM-95 def: "Human adenocarcinoma cell line from a 63-year-old Japanese male patient with moderately differentiated adenocarcinoma of the stomach" [] synonym: "IM95" EXACT [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000503 ! gastric adenocarcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://cellbank.nibio.go.jp/legacy/celldata/jcrb1075.0.htm xsd:string [Term] id: EFO:0006447 name: IPC-298 def: "Human melanoma cell line established from the primary tumor (right cervical) of a 64-year-old woman with cutaneous melanoma. (DSMZ catalog number ACC 251)" [] synonym: "IPC298" EXACT [] is_a: BTO:0000849 ! melanoma cell line relationship: has_characteristic EFO:0000756 ! melanoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.dsmz.de/de/kataloge/catalogue/culture/ACC-251.html xsd:string [Term] id: EFO:0006448 name: JL-1 def: "Human malignant epithelioid mesothelioma cell line established from the untreated malignant epithelioid mesothelioma of the pleura of a 54-year-old man with asbestos cancer in 2003 (DSMZ catalog number ACC 596)" [] synonym: "JL1" EXACT [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0006452 ! malignant epithelioid mesothelioma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-596.html xsd:string [Term] id: EFO:0006449 name: KARPAS-620 def: "human plasma cell leukemia established from the peripheral blood of a 77-year-old woman at diagnosis of plasma cell leukemia (IgGkappa) in 1987; plasma cell leukemia is related to multiple myeloma confirmed as human by cytogenetics" [] synonym: "Karpas 620" EXACT [] synonym: "KARPAS-620" EXACT [] is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0006475 ! plasma cell leukemia relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.cabri.org/CABRI/srs-bin/wgetz?-newId+-e+-page+qResult+[DSMZ_MUTZ-id:%27ACC%20514%27] xsd:string [Term] id: EFO:0006450 name: L-363 def: "human plasma cell leukemia cell line established from the peripheral blood of a 36-year-old woman with plasma cell leukemia (IgG) in 1977; cells were described to be EBNA-negative and to express mRNA for proto-oncogene BCL2; plasma cell leukemia is related to multiple myeloma. (DSMZ catalog number ACC 49)" [] is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0006475 ! plasma cell leukemia relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-49.html xsd:string [Term] id: EFO:0006451 name: M059K def: "M059K cells were isolated from a tumor specimen from a 33 year-old male patient with untreated glioblastoma. (ATCC catalog number CRL-2365)" [] xref: CLO:0007446 xref: RRID:CVCL_0401 is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0005543 ! glioma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.atcc.org/products/all/CRL-2365.aspx xsd:string [Term] id: EFO:0006452 name: malignant epithelioid mesothelioma def: "A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic cells with an epithelioid appearance. In the majority of cases, the neoplastic epithelioid cells lack significant cytologic atypia; mitotic figures are infrequently seen. In a minority of cases, the neoplastic cells are poorly differentiated and there is evidence of nuclear atypia and increased mitotic activity." [NCIT:C7985] synonym: "epithelial mesothelioma" EXACT [NCIT:C7985] synonym: "epithelioid mesothelioma" EXACT [NCIT:C7985] synonym: "epithelioid mesothelioma, malignant" EXACT [DOID:4489] synonym: "epithelioid mesothelioma, malignant (morphologic abnormality)" EXACT [DOID:4489] synonym: "malignant epithelial mesothelioma" EXACT [NCIT:C7985] synonym: "malignant epithelioid mesothelioma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "malignant epithelioid mesothelioma" EXACT [] {comment="preferred label from MONDO"} xref: DOID:4489 {source="MONDO:equivalentTo", source="EFO:0006452"} xref: EFO:0006452 {source="MONDO:equivalentTo"} xref: ICDO:9052/3 {source="NCIT:C7985"} xref: MONDO:0005599 xref: NCIT:C7985 {source="MONDO:0021037", source="DOID:4489", source="MONDO:equivalentTo", source="EFO:0006452"} xref: UMLS:C0862312 {source="DOID:4489", source="MONDO:equivalentTo", source="NCIT:C7985"} is_a: EFO:1000355 {source="DOID:4489", source="NCIT:C7985/inferred"} ! Malignant Mesothelioma property_value: closeMatch http://identifiers.org/snomedct/65278006 property_value: exactMatch DOID:4489 property_value: exactMatch DOID:4489 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0862312 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0862312 property_value: exactMatch NCIT:C7985 property_value: exactMatch NCIT:C7985 [Term] id: EFO:0006453 name: MCAS def: "Human ovarian adenocarcinoma cell line" [] is_a: EFO:0002394 ! ovarian cancer cell lines relationship: has_characteristic EFO:0006460 ! ovarian adenocarcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation "PMID: 25485619" xsd:string [Term] id: EFO:0006454 name: MDA-MB-330 def: "Human breast carcinoma cell line (ATCC catalog number HTB-127)" [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.atcc.org/products/all/HTB-127.aspx xsd:string [Term] id: EFO:0006455 name: MN9D def: "Model of a dopaminergic cell, generated by somatic cell fusion of primary neurons from mouse embryonic Day 14 rostral mesencephalic tegmentum and the neuroblastoma cell line, N18TG2." [] is_a: EFO:0002887 ! mouse cell line is_a: EFO:0005214 ! neuroblastoma cell line relationship: has_characteristic EFO:0006391 ! dopaminergic neuroblastoma property_value: definition:citation "PMID: 1913182" xsd:string [Term] id: EFO:0006456 name: MS751 def: "Human cervical epidermoid carcinoma cell line derived from metastatis in lymph node (ATCC catalog number HTB-34)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000707 ! squamous cell carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.atcc.org/products/all/HTB-34.aspx xsd:string [Term] id: EFO:0006457 name: MX-1 def: "Human breast carcinoma cell line" [] is_a: EFO:0002885 ! breast cancer cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma property_value: definition:citation "PMID: 25485619" xsd:string [Term] id: EFO:0006458 name: OV56 def: "The OV56 cell line was established from ascitic fluid derived from a 46-year-old female patient diagnosed with ovarian cancer. The tumour was characterised as stage IV, poorly differentiated. Immunocytochemical staining of the cells was reported to show strong staining for cytokeratin (CK), weak staining for carcinoembryonic antigen (CEA) and strong staining for human milk fat globulin (HMFG-2). Production of vascular endothelial growth factor (VEGF) has been detected by ELISA. The patient had received sequential treatment with cisplatin and cyclophosphamide, cisplatin and etoposide and subsequently tamoxifen. (Sigma-Aldrich catalog number 96020759)" [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002394 ! ovarian cancer cell lines is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0001075 ! ovarian carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/96020759?lang=en®ion=GB xsd:string [Term] id: EFO:0006459 name: OV7 def: "The OV7 cell line was established from solid ovarian tumour tissue taken from a 78-year-old female patient. The tumour was characterised as stage III, mixed tumour type and poorly differentiated. Immunocytochemical staining of the cells was reported to show strong staining for cytokeratin (CK), no staining for carcinoembryonic antigen (CEA) and strong staining for human milk fat globulin (HMFG-2). Detection of mRNA expression of vascular endothelial growth factor (VEGF) and its receptors flt and KDR has been reported. The patient had received treatment with chlorambucil. (Sigma-Aldrich catalog number 96020764)" [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002394 ! ovarian cancer cell lines is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0001075 ! ovarian carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/96020764 xsd:string [Term] id: EFO:0006460 name: ovarian adenocarcinoma def: "An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma." [NCIT:C7700] subset: ordo_disease {source="Orphanet:213504"} synonym: "adenocarcinoma of ovary" EXACT [MONDO:0016246, NCIT:C7700] synonym: "adenocarcinoma of the ovary" EXACT [DOID:3713, NCIT:C7700] synonym: "ovarian adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "ovarian adenocarcinoma" EXACT [DOID:3713, MONDO:0005600, NCIT:C7700, Orphanet:213504] synonym: "ovarian adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "ovary adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:3713 {source="MONDO:equivalentTo"} xref: EFO:0006460 {source="MONDO:equivalentTo"} xref: ICD10:C56 {source="ORDO:213504/ntbt", source="Orphanet:213504"} xref: MedDRA:10051938 {source="Orphanet:213504", source="Orphanet:213504/e"} xref: MedDRA:10051938 {source="Orphanet:213504", source="ORDO:213504/e"} xref: MONDO:0002752 xref: NCIT:C7700 {source="MONDO:equivalentTo", source="DOID:3713", source="EFO:0006460"} xref: Orphanet:213504 {source="MONDO:equivalentTo"} is_a: EFO:0000228 {source="DOID:3713", source="EFO:0006460", source="MONDO:Redundant", source="NCIT:C7700"} ! adenocarcinoma is_a: EFO:0001075 {source="DOID:3713", source="EFO:0006460", source="MONDO:Entailed", source="NCIT:C7700"} ! ovarian carcinoma property_value: closeMatch http://identifiers.org/meddra/10051938 property_value: exactMatch DOID:3713 property_value: exactMatch DOID:3713 property_value: exactMatch http://identifiers.org/meddra/10051938 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0948216 property_value: exactMatch NCIT:C7700 property_value: exactMatch NCIT:C7700 property_value: exactMatch Orphanet:213504 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/adenocarcinoma.yaml [Term] id: EFO:0006461 name: ovarian granulosa tumour def: "A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis." [] synonym: "granulosa cell neoplasm of ovary" EXACT [] synonym: "granulosa cell neoplasm of the ovary" EXACT [] synonym: "granulosa cell tumor of ovary" EXACT [] synonym: "granulosa cell tumor of the ovary" EXACT [] synonym: "ovarian granulosa cell neoplasm" EXACT [] synonym: "ovarian granulosa cell tumor" EXACT [] xref: MeSH:C537296 xref: NCIt:C6261 xref: SNOMEDCT:254863004 is_a: EFO:0003893 ! ovarian neoplasm property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0006462 name: ovarian mucinous adenocarcinoma def: "An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations." [NCIT:C5243] subset: ordo_disease {source="Orphanet:398961"} synonym: "mucinous adenocarcinoma of ovary" EXACT [MONDO:0018366, NCIT:C5243] synonym: "mucinous adenocarcinoma of the ovary" EXACT [NCIT:C5243] synonym: "mucinous carcinoma of ovary" EXACT [DOID:3606, NCIT:C5243] synonym: "mucinous carcinoma of the ovary" EXACT [NCIT:C5243] synonym: "ovarian mucinous adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "ovarian mucinous adenocarcinoma" EXACT [NCIT:C5243, Orphanet:398961] synonym: "ovarian mucinous adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "ovarian mucinous carcinoma" EXACT [NCIT:C5243] synonym: "ovary mucinous adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:3606 {source="MONDO:equivalentTo", source="EFO:0006462"} xref: EFO:0006462 {source="MONDO:equivalentTo"} xref: ICD10:C56 {source="Orphanet:398961", source="ORDO:398961/ntbt"} xref: MONDO:0005601 xref: NCIT:C5243 {source="MONDO:equivalentTo", source="EFO:0006462", source="DOID:3606"} xref: Orphanet:398961 {source="MONDO:equivalentTo"} xref: UMLS:C1335167 {source="NCIT:C5243", source="MONDO:equivalentTo", source="DOID:3606"} xref: UMLS:CN205033 {source="MONDO:equivalentTo"} is_a: EFO:0000197 {source="EFO:0006462", source="MONDO:Redundant", source="NCIT:C5243"} ! mucinous carcinoma is_a: EFO:0006460 {source="DOID:3606", source="MONDO:Redundant", source="NCIT:C5243"} ! ovarian adenocarcinoma is_a: MONDO:0024282 {source="NCIT:C5243"} ! mucinous ovarian cancer property_value: exactMatch DOID:3606 property_value: exactMatch DOID:3606 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335167 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335167 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205033 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205033 property_value: exactMatch NCIT:C5243 property_value: exactMatch NCIT:C5243 property_value: exactMatch Orphanet:398961 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0006463 name: ovarian teratoma def: "A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor." [NCIT:C8110] synonym: "germ cell teratoma of ovary" EXACT [DOID:5567, NCIT:C8110] synonym: "germ cell teratoma of the ovary" EXACT [NCIT:C8110] synonym: "ovarian germ cell teratoma" EXACT [NCIT:C8110] synonym: "ovarian teratoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "ovarian teratoma" EXACT [NCIT:C8110] synonym: "ovarian teratoma" EXACT [] {comment="preferred label from MONDO"} synonym: "teratoma of ovary" EXACT [NCIT:C8110] synonym: "teratoma of the ovary" EXACT [NCIT:C8110] xref: DOID:5567 {source="MONDO:equivalentTo", source="EFO:0006463"} xref: EFO:0006463 {source="MONDO:equivalentTo"} xref: MONDO:0005602 xref: NCIT:C8110 {source="DOID:5567", source="MONDO:equivalentTo", source="exact-label-match", source="EFO:0006463"} xref: NCIT:C8110 {source="DOID:5567", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:0006463"} xref: SCTID:716077006 {source="MONDO:equivalentTo"} xref: UMLS:C0280131 {source="NCIT:C8110", source="DOID:5567", source="MONDO:equivalentTo"} is_a: EFO:1000282 {source="MONDO:Redundant", source="NCIT:C8110"} ! Gonadal Teratoma is_a: EFO:1000419 {source="DOID:5567", source="NCIT:C8110"} ! Ovarian Germ Cell Tumor relationship: EFO:0000784 UBERON:0000992 ! has_disease_location ovary property_value: exactMatch DOID:5567 property_value: exactMatch DOID:5567 property_value: exactMatch http://identifiers.org/snomedct/716077006 property_value: exactMatch http://identifiers.org/snomedct/716077006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280131 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280131 property_value: exactMatch NCIT:C8110 property_value: exactMatch NCIT:C8110 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql [Term] id: EFO:0006464 name: obsolete_OVCAR433 def: "Human ovarian carcinoma cell line" [] property_value: definition:citation "PMID: 25485619" xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.65" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : EFO_0006723 label : OVCA433" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0006723 [Term] id: EFO:0006465 name: PA-1 def: "Human ovarian teratocarcinoma cell line derived from metastasis in ascites (ATCC catalog number CRL-1572)" [] synonym: "PA1" EXACT [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0006463 ! ovarian teratoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.atcc.org/products/all/CRL-1572.aspx xsd:string [Term] id: EFO:0006466 name: Panc 02.03 def: "Panc 02.03 is a pancreatic adenocarcinoma epithelial cell line derived in 1995 from a primary tumor removed from the head-of-the-pancreas of a female with pancreatic adenocarcinoma. (ATCC catalog number CRL-2553)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002618 ! pancreatic carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.atcc.org/products/all/CRL-2553.aspx xsd:string [Term] id: EFO:0006467 name: Panc 03.27 def: "Panc 03.27 is a pancreatic adenocarcinoma epithelial cell line derived in 1995 from a primary tumor removed from the head-of-the-pancreas of a female with pancreatic adenocarcinoma. (ATCC catalog number CRL-2549)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002618 ! pancreatic carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.atcc.org/products/all/CRL-2549.aspx xsd:string [Term] id: EFO:0006468 name: Panc 04.03 def: "Panc 04.03 is a pancreatic adenocarcinoma epithelial cell line derived, in 1995, from a primary tumor removed from the head-of-the-pancreas of a male with pancreatic adenocarcinoma. (ATCC catalog number CRL-2555)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002618 ! pancreatic carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.atcc.org/products/all/CRL-2555.aspx xsd:string [Term] id: EFO:0006469 name: Panc 05.04 def: "Panc 05.04 is a pancreatic adenocarcinoma epithelial cell line derived, in 1995, from a primary tumor removed from the head-of-the-pancreas of a female with pancreatic adenocarcinoma. (ATCC catalog number CRL-2557)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002618 ! pancreatic carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.atcc.org/products/all/CRL-2557.aspx xsd:string [Term] id: EFO:0006470 name: Panc 08.13 def: "Panc 08.13 is a pancreatic adenocarcinoma epithelial cell line derived in 1995 from a primary tumor removed from the head-of-the-pancreas of a male with pancreatic adenocarcinoma. (ATCC catalog number CRL-2551)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002618 ! pancreatic carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.atcc.org/products/all/CRL-2551.aspx xsd:string [Term] id: EFO:0006471 name: pancreatic tubular adenocarcinoma def: "A tubular adenocarcinoma that involves the pancreas." [MONDO:patterns/location] synonym: "pancreas tubular adenocarcinoma" EXACT [MONDO:patterns/location] synonym: "pancreatic tubular adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "pancreatic tubular adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:0006471 {source="MONDO:equivalentTo"} xref: MONDO:0005603 is_a: EFO:0006500 {source="EFO:0006471", source="MONDO:Redundant"} ! tubular adenocarcinoma is_a: EFO:1000044 ! pancreatic adenocarcinoma relationship: EFO:0000784 UBERON:0001264 ! has_disease_location pancreas [Term] id: EFO:0006472 name: Pfeiffer def: "The Pfeiffer cell line was established in 1992 from a patient in the leukemic phase of diffuse large cell lymphoma (DLCL) with cleaved and non-cleaved nuclei. (ATCC catalog number CRL-2632)" [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line is_a: EFO:0005292 ! lymphoblastoid cell line relationship: has_characteristic EFO:0000574 ! lymphoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.atcc.org/products/all/CRL-2632.aspx xsd:string [Term] id: EFO:0006473 name: PL-21 def: "Human acute myeloid leukemia cell line established from the peripheral blood of a 24-year-old man with refractory acute promyelocytic leukemia after mediastinal granulocytic sarcoma. (DSMZ catalog number ACC 536)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000222 ! acute myeloid leukemia relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-536.html xsd:string [Term] id: EFO:0006474 name: PL45 def: "PL45 is a pancreatic adenocarcinoma epithelial cell line derived in 1992 from a primary tumor removed from the pancreas of a man with poorly differentiated pancreatic adenocarcinoma of ductal origin. (ATCC catalog number CRL-2558)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002618 ! pancreatic carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.atcc.org/products/all/CRL-2558.aspx xsd:string [Term] id: EFO:0006475 name: plasma cell leukemia def: "An aggressive plasma cell neoplasm characterized by the presence of neoplastic plasma cells in the peripheral blood. It is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count." [NCIT:C3180] subset: gard_rare {source="GARD:0009373"} subset: ordo_disease {source="Orphanet:454714"} synonym: "leukaemia plasmacytic" EXACT OMO:0003005 [] synonym: "leukemia plasmacytic" EXACT [NCIT:C3180] synonym: "leukemia, plasma cell" RELATED [GARD:0009373] synonym: "PCL" EXACT ABBREVIATION [Orphanet:454714] synonym: "plasma cell leukemia" EXACT [NCIT:C3180] synonym: "plasma cell leukemia" EXACT [] {comment="preferred label from MONDO"} synonym: "plasma cell leukemia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "plasmacytic leukaemia" EXACT OMO:0003005 [] synonym: "plasmacytic leukemia" EXACT [NCIT:C3180] xref: COHD:133154 {source="MONDO:equivalentTo"} xref: DOID:9513 {source="MONDO:equivalentTo", source="EFO:0006475"} xref: EFO:0006475 {source="MONDO:equivalentTo"} xref: GARD:0009373 {source="MONDO:equivalentTo"} xref: ICD10:C90.1 {source="DOID:9513", source="Orphanet:454714", source="ORDO:454714/e"} xref: ICD10:C90.10 {source="DOID:9513"} xref: ICD9:203.1 {source="DOID:9513", source="EFO:0006475"} xref: ICD9:203.10 {source="MONDO:equivalentTo", source="i2s"} xref: ICD9:203.10 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICDO:9733/3 {source="NCIT:C3180"} xref: MESH:D007952 {source="DOID:9513", source="MONDO:equivalentTo"} xref: MONDO:0018689 xref: NCIT:C3180 {source="DOID:9513", source="MONDO:equivalentTo", source="EFO:0006475"} xref: Orphanet:454714 {source="MONDO:equivalentTo"} xref: SCTID:95210003 {source="DOID:9513", source="MONDO:equivalentTo", source="EFO:0006475"} xref: UMLS:C0023484 {source="DOID:9513", source="MONDO:equivalentTo", source="Orphanet:454714", source="NCIT:C3180"} is_a: EFO:0000200 {source="EFO:0006475", source="MESH:D007952/inferred", source="NCIT:C3180", source="Orphanet:454714"} ! plasma cell neoplasm is_a: EFO:0000220 {source="DOID:9513", source="MONDO:Redundant", source="MONDO:indirect"} ! acute lymphoblastic leukemia is_a: EFO:1001938 ! B-cell non-Hodgkins lymphoma property_value: closeMatch http://identifiers.org/snomedct/128922003 property_value: closeMatch http://identifiers.org/snomedct/154586003 property_value: closeMatch http://identifiers.org/snomedct/188722001 property_value: closeMatch http://identifiers.org/snomedct/190038002 property_value: closeMatch http://identifiers.org/snomedct/190039005 property_value: closeMatch http://identifiers.org/snomedct/269630009 property_value: closeMatch http://identifiers.org/snomedct/39193004 property_value: exactMatch DOID:9513 property_value: exactMatch DOID:9513 property_value: exactMatch http://identifiers.org/mesh/D007952 property_value: exactMatch http://identifiers.org/mesh/D007952 property_value: exactMatch http://identifiers.org/snomedct/95210003 property_value: exactMatch http://identifiers.org/snomedct/95210003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023484 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023484 property_value: exactMatch NCIT:C3180 property_value: exactMatch NCIT:C3180 property_value: exactMatch Orphanet:454714 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9373/plasma-cell-leukemia xsd:anyURI {source="GARD:0009373"} [Term] id: EFO:0006476 name: RCM-1 def: "Human colorectal adenocarcinoma cell line" [] is_a: BTO:0001616 ! colorectal cancer cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation "PMID: 25485619" xsd:string [Term] id: EFO:0006477 name: RI-1 def: "Human lymphoma cell line established from the peripheral blood of a 57-year-old woman with B-cell non-Hodgkin lymphoma (B-NHL, lymphocytic, small cell type progressing to large non-convoluted cell type) in the refractory terminal stage in 1977; assigned to ABC-like lymphoma subtype (activated B-cell); cell line also known as Riva. (DSMZ catalog number ACC 585)" [] synonym: "Riva" EXACT [] is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000574 ! lymphoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-585.htm xsd:string [Term] id: EFO:0006478 name: RPMI 2650 def: "Human squamous cell carcinoma derived from metastatis in pleural effusion (ATCC catalog number CCL-30)" [] xref: CLO:0008876 xref: RRID:CVCL_1664 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000707 ! squamous cell carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.atcc.org/products/all/CCL-30.aspx xsd:string [Term] id: EFO:0006479 name: RT-112 def: "Human carcinoma cell line established from the transitional cell carcinoma (histological grade G2) excised from a woman (age unknown) with untreated primary urinary bladder carcinoma in 1973; described to form tumors in nude mice (DSMZ catalog number ACC 418)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic MONDO:0004986 ! urinary bladder carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-418.html xsd:string [Term] id: EFO:0006480 name: RT4 def: "Human transitional cell papilloma cell line (ATCC catalog number HTB-2)" [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0006497 ! transitional cell papilloma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.atcc.org/products/all/HTB-2.aspx xsd:string [Term] id: EFO:0006481 name: SC-1 def: "Human B-cell lymphoma cell line from a 67-year-old male patient" [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000574 ! lymphoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation "PMID: 25485619" xsd:string [Term] id: EFO:0006482 name: SCC-15 def: "Human squamous cell carcinoma cell line from the tongue of a 55-year-old male patient. (ATCC catalog number CRL-1623)" [] is_a: EFO:0001639 ! cancer cell line relationship: has_characteristic EFO:0000707 ! squamous cell carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.atcc.org/products/all/CRL-1623.aspx xsd:string [Term] id: EFO:0006483 name: SCC-25 def: "Human squamous cell carcinoma cell line from the tongue of a 70-year-old male patient. (ATCC catalog number CRL-1628)" [] is_a: EFO:0001639 ! cancer cell line relationship: has_characteristic EFO:0000707 ! squamous cell carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.atcc.org/products/all/CRL-1628.aspx xsd:string [Term] id: EFO:0006484 name: SCC-3 def: "Human non-Hodgkin's lymphoma cell line." [] is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000574 ! lymphoma property_value: definition:citation "PMID: 3095281" xsd:string [Term] id: EFO:0006485 name: SCC-9 def: "Human squamous cell carcinoma cell line from the tongue of a 25-year-old male patient. (ATCC catalog number CRL-1629)" [] xref: BTO:0005855 xref: CLO:0008969 xref: RRID:CVCL_1685 is_a: EFO:0001639 ! cancer cell line relationship: has_characteristic EFO:0000707 ! squamous cell carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.atcc.org/products/all/CRL-1629.aspx xsd:string [Term] id: EFO:0006486 name: SET-2 def: "Human essential thrombocythemia cell line established from the peripheral blood of a 71-year-old woman with essential thrombocythemia at megakaryoblastic leukemic transformation in 1995. (DSMZ catalog number ACC 608)" [] xref: BTO:0004766 xref: RRID:CVCL_2187 is_a: EFO:0001639 ! cancer cell line relationship: has_characteristic EFO:0000479 ! essential thrombocythemia relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-608.html xsd:string [Term] id: EFO:0006487 name: SK-MEL-24 def: "Human melanoma cell line derived from metastasis in lymph node (ATCC catalog number HTB-71)" [] is_a: BTO:0000849 ! melanoma cell line relationship: has_characteristic EFO:0000756 ! melanoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.atcc.org/products/all/HTB-71.aspx xsd:string [Term] id: EFO:0006488 name: SK-MEL-30 def: "Human melanoma cell line derived from tumor tissue (subcutis metastasis) of a 67-year-old Caucasian man with malignant melanoma in 1975 (DSMZ catalog number ACC 151)" [] is_a: BTO:0000849 ! melanoma cell line relationship: has_characteristic EFO:0000756 ! melanoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.dsmz.de/de/kataloge/catalogue/culture/ACC-151.html xsd:string [Term] id: EFO:0006489 name: SK-MEL-31 def: "Human melanoma cell line derived from a female patient with malignant melanoma (ATCC catalog number HTB-73)" [] is_a: BTO:0000849 ! melanoma cell line relationship: has_characteristic EFO:0000756 ! melanoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.atcc.org/products/all/HTB-73.aspx xsd:string [Term] id: EFO:0006490 name: SK23 def: "Human melanoma cell line" [] synonym: "SK23-mel" EXACT [] is_a: BTO:0000849 ! melanoma cell line relationship: has_characteristic EFO:0000756 ! melanoma property_value: definition:citation "PMID: 25485619" xsd:string [Term] id: EFO:0006491 name: SR-786 def: "Human anaplastic large T cell lymphoma cell line established from the pleural effusion an 11-year-old boy with CD30+ (Ki-1) large T cell lymphoma in 1983 (also described as \"SR\"); described to express the NPM1-ALK (NPM-ALK) fusion gene (DSMZ catalog number ACC 369)" [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000574 ! lymphoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-369.html xsd:string [Term] id: EFO:0006492 name: SU-DHL-4 def: "Human lymphoma cell line isolated from peritoneal effusion in a 38-year-old male Caucasian patient. (ATCC catalog number CRL-2957)" [] xref: ATCC:CRL-2957 xref: BTO:0006462 xref: CLO:0037061 xref: RRID:CVCL_0539 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000574 ! lymphoma relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0006493 name: SU-DHL-8 def: "Human large cell lymphoma cel line derived from peritoneal effusion in a 59-year-old male Caucasian patient (ATCC catalog number CRL-2961)." [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000574 ! lymphoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.atcc.org/products/all/CRL-2961.aspx xsd:string [Term] id: EFO:0006494 name: SU.86.86 def: "Human pancreatic ductal carcinoma derived from metastasis in liver. (ATCC catalog number CRL-1837)" [] is_a: EFO:0001639 ! cancer cell line relationship: has_characteristic EFO:0002517 ! pancreatic ductal adenocarcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.atcc.org/products/all/CRL-1837.aspx xsd:string [Term] id: EFO:0006495 name: SUIT-2 def: "Human pancreatic tubular adenocarcinoma derived from metastasis in the liver of a 73-year-old male Japanese patient." [] synonym: "SUIzo Tumor-2" EXACT [] xref: BTO:0003493 xref: CLO:0037114 xref: RRID:CVCL_3172 is_a: EFO:0001639 ! cancer cell line relationship: has_characteristic EFO:0006471 ! pancreatic tubular adenocarcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation "PMID: 25485619" xsd:string [Term] id: EFO:0006496 name: TMD8 def: "Human diffuse large B cell lymphoma cell line derived from a 62-year-old male patient." [] xref: CLO:0037272 xref: RRID:CVCL_A442 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000403 ! diffuse large B-cell lymphoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation "PMID: 25485619" xsd:string [Term] id: EFO:0006497 name: transitional cell papilloma def: "A benign papillary neoplasm composed of transitional cells which show preservation of the nuclear polarity." [NCIT:C4115] synonym: "papilloma, transitional cell, benign" EXACT [NCIT:C4115] synonym: "transitional cell papilloma" EXACT [DOID:2670, NCIT:C4115] synonym: "transitional cell papilloma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "transitional cell papilloma" EXACT [] {comment="preferred label from MONDO"} synonym: "transitional cell papilloma NOS (morphologic abnormality)" EXACT [DOID:2670] synonym: "transitional cell papilloma, benign" EXACT [DOID:2670] synonym: "transitional cell papilloma, benign (morphologic abnormality)" EXACT [DOID:2670] synonym: "transitional papilloma" EXACT [NCIT:C4115] xref: DOID:2670 {source="MONDO:equivalentTo", source="EFO:0006497"} xref: EFO:0006497 {source="MONDO:equivalentTo"} xref: ICDO:8120/0 {source="NCIT:C4115"} xref: MONDO:0005605 xref: NCIT:C4115 {source="DOID:2670", source="MONDO:equivalentTo", source="exact-label-match", source="EFO:0006497"} xref: NCIT:C4115 {source="DOID:2670", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:0006497"} xref: UMLS:C0334266 {source="DOID:2670", source="MONDO:equivalentTo", source="NCIT:C4115"} is_a: MONDO:0002363 {source="DOID:2670", source="MONDO:Redundant", source="NCIT:C4115"} ! papilloma property_value: closeMatch http://identifiers.org/snomedct/189575005 property_value: closeMatch http://identifiers.org/snomedct/44342003 property_value: closeMatch http://identifiers.org/snomedct/45083001 property_value: exactMatch DOID:2670 property_value: exactMatch DOID:2670 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334266 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334266 property_value: exactMatch NCIT:C4115 property_value: exactMatch NCIT:C4115 [Term] id: EFO:0006498 name: U-251 MG def: "Human glioblastoma cell line (Sigma-Aldrich catalog number 09063001)" [] is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0005543 ! glioma property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/09063001 xsd:string [Term] id: EFO:0006499 name: U-2932 def: "Human diffuse large B cell lymphoma cell line established in 1996 from the ascites of a 29-year-old woman with diffuse large B cell lymphoma, who 16 years earlier was diagnosed with advanced stage Hodgkin lymphoma, and relapsed several times after multiple chemo- and radiotharapy regimens to complete remissions; cells were described to overexpress BCL2, BCL6 and p53; assigned to ABC-like lymphoma subtype (activated B-cell) (DSMZ catalog number ACC 633)" [] is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000403 ! diffuse large B-cell lymphoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-633.html xsd:string [Term] id: EFO:0006500 name: tubular adenocarcinoma def: "An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma." [NCIT:C65192] synonym: "carcinoma, tubular cell, malignant" EXACT [NCIT:C65192] synonym: "tubular adenocarcinoma" EXACT [NCIT:C65192] synonym: "tubular adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "tubular adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "tubular adenocarcinoma (morphologic abnormality)" EXACT [DOID:4929] synonym: "tubular carcinoma" EXACT [DOID:4929, NCIT:C3682] xref: DOID:4929 {source="EFO:0006500", source="MONDO:equivalentTo"} xref: EFO:0006500 {source="MONDO:equivalentTo"} xref: ICDO:8211/3 {source="NCIT:C65192"} xref: MONDO:0005606 xref: NCIT:C65192 {source="EFO:0006500", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4929"} xref: NCIT:C65192 {source="EFO:0006500", source="MONDO:equivalentTo", source="exact-label-match", source="DOID:4929"} xref: UMLS:C0205645 {source="NCIT:C65192", source="MONDO:equivalentTo", source="DOID:4929"} is_a: EFO:0000228 {source="DOID:4929", source="EFO:0006500", source="NCIT:C65192"} ! adenocarcinoma property_value: closeMatch http://identifiers.org/snomedct/4631006 property_value: exactMatch DOID:4929 property_value: exactMatch DOID:4929 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205645 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205645 property_value: exactMatch NCIT:C65192 property_value: exactMatch NCIT:C65192 [Term] id: EFO:0006501 name: carotid plaque build def: "quantification of the build-up of atheroscleortic plaque, expressed as the sum of plaque areas over the segments in common and internal carotid arteries and bifurcation" [] synonym: "carotid plaque burden" EXACT [] synonym: "CPB" EXACT [] xref: PMID:24954085 is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 EFO:0003763 ! is_about cerebrovascular disorder relationship: IAO:0000136 UBERON:0005396 ! is_about carotid artery segment property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006502 name: mammographic density percentage def: "proportion of the total breast area that is dense" [] xref: PMID:25342443 is_a: EFO:0005941 ! mammographic density measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006503 name: dense area measurement def: "quantification of the area of the breast tissue that is dense, expressed in cm2" [] xref: PMID:25342443 is_a: EFO:0005941 ! mammographic density measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006504 name: non-dense area measurement def: "quantification of the area of the breast tissue that is non-dense, expressed in cm2" [] xref: PMID:25342443 is_a: EFO:0005941 ! mammographic density measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006505 name: chronic bronchitis def: "A type of chronic obstructive pulmonary disease characterized by chronic inflammation in the bronchial tree that results in edema, mucus production, obstruction, and reduced airflow to and from the lung alveoli. The most common cause is tobacco smoking. Signs and symptoms include coughing with excessive mucus production, and shortness of breath." [NCIT:C26722] synonym: "bronchitis, chronic" EXACT [MONDO:patterns/chronic] synonym: "chronic bronchitis" EXACT [] {comment="preferred label from MONDO"} xref: ICD9:491 {source="EFO:0006505"} xref: ICD9:491.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:491.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10008841 xref: MedDRA:10008843 xref: MESH:D029481 {source="MONDO:equivalentTo"} xref: MONDO:0005607 xref: NCIT:C26722 {source="EFO:0006505", source="MONDO:equivalentTo"} xref: NCIt:C26722 xref: SCTID:63480004 {source="EFO:0006505", source="MONDO:equivalentTo"} xref: SNOMEDCT:63480004 xref: UMLS:C0008677 {source="MONDO:equivalentTo", source="NCIT:C26722"} is_a: EFO:0000341 {source="EFO:0006505", source="NCIT:C26722"} ! chronic obstructive pulmonary disease is_a: EFO:0009661 {source="MONDO:Redundant", source="NCIT:C26722"} ! bronchitis relationship: has_modifier HP:0011010 ! Chronic property_value: exactMatch http://identifiers.org/mesh/D029481 property_value: exactMatch http://identifiers.org/snomedct/63480004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008677 property_value: exactMatch NCIT:C26722 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0006506 name: hepatic lipid content measurement def: "quantification of the lipid content of the liver, through medical imaging or from histological samples" [] is_a: EFO:0004529 ! lipid measurement relationship: IAO:0000136 CHEBI:18059 ! is_about lipid relationship: IAO:0000136 UBERON:0002107 ! is_about liver property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006507 name: nicotine glucuronidation measurement def: "quantification of nicotine metabolisation via the glucuronidation pathway, usually via analysis of a urine sample" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006508 name: cotinine glucuronidation measurement def: "quantification of cotinine metabolisation via the glucuronidation pathway, usually via analysis of a urine sample" [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 CHEBI:18723 ! is_about nicotine property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006509 name: Varicella Zoster infection def: "A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox." [NCIT:C96407] synonym: "varicella zoster infection" EXACT [NCIT:C96407] synonym: "varicella zoster infection" EXACT [] {comment="preferred label from MONDO"} synonym: "Varicella-zoster Virus infection" EXACT [NCIT:C96407] xref: ICD9:052.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MONDO:0005608 xref: NCIT:C96407 {source="MONDO:equivalentTo", source="EFO:0006509"} xref: NCIt:C96407 xref: SCTID:309465005 {source="MONDO:equivalentTo"} xref: UMLS:C0586989 {source="NCIT:C96407", source="MONDO:equivalentTo"} is_a: EFO:0007309 ! Herpesviridae infectious disease property_value: exactMatch http://identifiers.org/snomedct/309465005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0586989 property_value: exactMatch NCIT:C96407 [Term] id: EFO:0006510 name: Herpes Zoster def: "A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area." [NCIT:C71079] synonym: "herpes zona" EXACT [DOID:8536] synonym: "herpes Zoster" EXACT [NCIT:C71079] synonym: "herpes zoster" EXACT [] {comment="preferred label from MONDO"} synonym: "HZ" EXACT [] synonym: "postherpetic neuralgia" RELATED [] synonym: "shingles" EXACT [DOID:8536, NCIT:C71079] synonym: "Zoster" EXACT [NCIT:C71079] synonym: "zoster" EXACT [] xref: DOID:8536 {source="EFO:0006510", source="MONDO:equivalentTo"} xref: ICD10:B02 xref: ICD10CM:B02 {source="DOID:8536", source="MONDO:equivalentTo"} xref: ICD9:053 {source="EFO:0006510", source="DOID:8536"} xref: MedDRA:10019974 xref: MESH:D006562 {source="EFO:0006510", source="DOID:8536", source="MONDO:equivalentTo"} xref: MeSH:D006562 xref: MONDO:0005609 xref: NCIT:C71079 {source="EFO:0006510", source="DOID:8536", source="MONDO:equivalentTo"} xref: NCIt:C71079 xref: SCTID:4740000 {source="EFO:0006510", source="DOID:8536", source="MONDO:equivalentTo"} xref: SNOMEDCT:4740000 xref: UMLS:C0019360 {source="DOID:8536", source="MONDO:equivalentTo", source="NCIT:C71079"} is_a: EFO:0006509 {source="EFO:0006510", source="MONDO:Redundant", source="NCIT:C71079"} ! Varicella Zoster infection is_a: EFO:1000774 ! vesiculobullous skin disease is_a: MONDO:0021674 {source="MONDO:Redundant"} ! post-viral disorder is_a: MONDO:0024294 ! skin disorder caused by infection is_a: MONDO:0100330 ! disease arising from reactivation of latent virus relationship: disease_arises_from_feature EFO:0006509 {source="EFO:0006510-isa"} ! Varicella Zoster infection relationship: disease_causes_feature MONDO:0021677 ! post-infectious neuralgia relationship: disease_has_feature EFO:0009430 ! neuralgia property_value: exactMatch DOID:8536 property_value: exactMatch http://identifiers.org/mesh/D006562 property_value: exactMatch http://identifiers.org/snomedct/4740000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019360 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B02 property_value: exactMatch NCIT:C71079 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0006511 name: Kashin-Beck disease def: "Disabling osteochondrodysplasia with OSTEOSCLEROSIS, cone-shaped METAPHYSIS, and shortening of the DIAPHYSIS. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology." [] def: "Disabling osteochondrodysplasia with osteosclerosis, cone-shaped metaphysis, and shortening of the diaphysis. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology." [MESH:D057767] synonym: "Kashin-Beck disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Urov disease" EXACT [] xref: ICD9:716.00 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:716.06 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:716.08 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D057767 {source="EFO:0006511", source="MONDO:equivalentTo"} xref: MeSH:D057767 xref: MONDO:0005610 xref: SCTID:270505009 {source="MONDO:equivalentTo"} xref: UMLS:C2745963 {source="MONDO:equivalentTo"} is_a: EFO:0005571 {source="EFO:0006511", source="MESH:D057767"} ! osteochondrodysplasia property_value: exactMatch http://identifiers.org/mesh/D057767 property_value: exactMatch http://identifiers.org/snomedct/270505009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2745963 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0006512 name: angiographic measurement def: "quantification of some heart-related structural phenotype via the medical imaging technique of angiography, for example to determine the number or type of coronary artery lesions in coronary artery disease" [] is_a: EFO:0004298 ! cardiovascular measurement relationship: IAO:0000136 UBERON:0004535 ! is_about cardiovascular system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006513 name: hereditary hemochromatosis type 1 def: "Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease" [EFO:0006513, https://github.com/EBISPOT/efo/issues/58] subset: ordo_disease synonym: "C282Y/C282Y hemochromatosis" EXACT [EFO:0006513, Orphanet:139498] synonym: "classic hemochromatosis" EXACT [EFO:0006513, Orphanet:139498] synonym: "hemochromatosis" EXACT [OMIM:235200, OMIM:genemap2] synonym: "hemochromatosis type 1" EXACT [] {comment="preferred label from MONDO"} synonym: "hemochromatosis, type 1" EXACT [OMIM:235200] synonym: "hereditary hemochromatosis" EXACT [] synonym: "hfe hemochromatosis, modifier of" EXACT [OMIM:235200, OMIM:genemap2] synonym: "HFE-associated Hereditary hemochromatosis" EXACT [] synonym: "HFE-associated hereditary hemochromatosis" EXACT [EFO:0006513] synonym: "HFE-related hemochromatosis" EXACT [EFO:0006513, Orphanet:139498] synonym: "HFE1" EXACT ABBREVIATION [DOID:0111029, MONDO:Lexical, OMIM:235200] synonym: "symptomatic form of classic hemochromatosis" NARROW [DOID:0111029, Orphanet:465508] synonym: "symptomatic form of hemochromatosis type 1" EXACT [DOID:0111029] synonym: "symptomatic form of HFE-related hereditary hemochromatosis" NARROW [DOID:0111029, Orphanet:465508] xref: DOID:0111029 {source="MONDO:equivalentTo"} xref: ICD9:275.01 {source="EFO:0006513"} xref: MONDO:0021001 xref: NCIT:C84764 {source="EFO:0006513", source="MONDO:equivalentTo"} xref: NCIt:C84764 xref: OMIM:235200 {source="DOID:0111029", source="EFO:0006513", source="MONDO:equivalentTo", source="Orphanet:465508"} xref: Orphanet:139498 {source="MONDO:equivalentObsolete"} xref: Orphanet:465508 {source="DOID:0111029", source="MONDO:mondoIsBroaderThanSource"} xref: SCTID:35400008 {source="EFO:0006513", source="MONDO:directSiblingOf"} xref: SNOMEDCT:35400008 xref: UMLS:CN242134 {source="MONDO:equivalentTo"} is_a: EFO:0010284 ! hepatobiliary disease is_a: MONDO:0006507 {source="DOID:0111029", source="NCIT:C84764", source="OMIM:235200"} ! hereditary hemochromatosis relationship: EFO:0000784 UBERON:0002423 ! has_disease_location hepatobiliary system relationship: has_characteristic MONDO:0021137 ! not rare relationship: RO:0000057 CHEBI:18248 ! has_participant iron atom property_value: exactMatch DOID:0111029 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242134 property_value: exactMatch https://omim.org/entry/235200 property_value: exactMatch NCIT:C84764 property_value: excluded_subClassOf MONDO:0016363 {source="Orphanet:465508"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: EFO:0006514 name: Alzheimer's disease biomarker measurement def: "Alzheimer's disease biomarkers are used as indicators for Alzheimer's disease screening and as predictors for therapeutic responses and prognoses in Alzheimer patients" [] is_a: EFO:0006848 ! mental or behavioural disorder biomarker intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 MONDO:0004975 ! is_about Alzheimer disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006515 name: angiotensin-converting enzyme measurement def: "quantification of the amount of angiotension-converting enzyme in a sample, eg in cerebro-spinal fluid or blood" [] synonym: "ACE measurement" EXACT [] is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 OBI:0000427 ! is_about enzyme property_value: definition:citation https://en.wikipedia.org/wiki/Angiotensin-converting_enzyme xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006516 name: superior frontal gyrus grey matter volume measurement def: "quantification of the volume of grey matter in the superior frontal gyrus, usuallly through an MRI scan" [] is_a: EFO:0005420 ! grey matter volume measurement relationship: IAO:0000136 EFO:0001715 ! is_about volume relationship: IAO:0000136 UBERON:0000955 ! is_about brain relationship: IAO:0000136 UBERON:0002769 ! is_about superior temporal gyrus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006517 name: interferon alpha measurement def: "quantification of interferon alpha in a sample" [] xref: NCIt:C81994 is_a: EFO:0004873 ! cytokine measurement relationship: IAO:0000136 EFO:0003021 ! is_about interferon alpha property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006518 name: response to losartan def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with losartan, an angiotensin II receptor antagonist drug used mainly to treat hypertension" [] is_a: EFO:0005405 ! response to antihypertensive drug relationship: IAO:0000136 CHEBI:6541 ! is_about losartan property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006519 name: MMR-related febrile seizures def: "febrile seizures that occur in a risk window of 9 to 14 days following the date of MMR vaccination" [] xref: PMID:25344690 is_a: HP:0002373 ! Febrile seizure (within the age range of 3 months to 6 years) property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0006520 name: carbon monoxide exhalation measurement def: "Quantification of the amount of carbon monoxide in a person's exhalation, usually measured using a breath CO monitor. Breath CO can be used for evaluation of smoking status or assessment of carbon monoxide poisoning" [] synonym: "breath carbon monoxide measurement" EXACT [] is_a: EFO:0005671 ! smoking behaviour measurement relationship: IAO:0000136 EFO:0004318 ! is_about smoking behavior property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006521 name: calcium intake measurement def: "Quantification of the amount of calcium consumed from dietary and supplemental sources" [] is_a: EFO:0004838 ! calcium measurement is_a: EFO:0008111 ! diet measurement relationship: IAO:0000136 CHEBI:22984 ! is_about calcium atom property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006522 name: asymmetrical dimethylarginine measurement def: "quantification of the amount of asymmetrical dimethylarginine in blood. Asymmetric dimethylarginine (ADMA) is an independent risk factor for coronary heart disease in patients with heart disease, type II diabetes or kidney disease. ADMA inhibits nitric oxide (NO) synthesis and is elevated in diseases related to endothelial dysfunction including hypertension, hyperlipidemia, and type-II diabetes mellitus. Elevation in ADMA and subsequent NO synthesis inhibition leads to vasoconstriction, reduced peripheral blood flow, and reduced cardiac output." [] synonym: "ADMA measurement" EXACT [] is_a: EFO:0005134 ! amino acid measurement is_a: EFO:0005278 ! cardiovascular disease biomarker measurement is_a: EFO:0005418 ! serum dimethylarginine measurement relationship: IAO:0000136 CHEBI:17929 ! is_about N(omega),N(omega)-dimethyl-L-arginine relationship: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease property_value: definition:citation https://en.wikipedia.org/wiki/Asymmetric_dimethylarginine xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006523 name: symmetrical dimethylarginine measurement def: "quantification of the amount of asymmetrical dimethylarginine in blood. It is a structural isomer of asymmetric dimethyl argigine. It has been reported to be a marker for kidney disease, often used a predictor of all-cause mortality after ischemic stroke" [] synonym: "SDMA measurement" EXACT [] is_a: EFO:0005134 ! amino acid measurement is_a: EFO:0005278 ! cardiovascular disease biomarker measurement is_a: EFO:0005418 ! serum dimethylarginine measurement relationship: IAO:0000136 CHEBI:25682 ! is_about N(omega),N'(omega)-dimethyl-L-arginine relationship: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease property_value: definition:citation http://europepmc.org/abstract/MED/25245031 xsd:string property_value: definition:citation http://jasn.asnjournals.org/content/17/4/1128.abstract xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006524 name: L-arginine measurement def: "quantification of the amount of L-arginine in a sample, eg in blood" [] is_a: EFO:0020990 ! arginine measurement relationship: IAO:0000136 CHEBI:16467 ! is_about L-arginine property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006525 name: cigarettes per day measurement def: "the quantification of the number of cigarettes that a subject smoked on average per day" [] synonym: "CPD measurement" EXACT [] is_a: EFO:0005671 ! smoking behaviour measurement relationship: IAO:0000136 EFO:0004318 ! is_about smoking behavior property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006526 name: pack-years measurement def: "the quantification of the average number of packs smoked per day\ntimes the total number of years a subject smoked during his/\nher lifetime" [] is_a: EFO:0005671 ! smoking behaviour measurement relationship: IAO:0000136 EFO:0004318 ! is_about smoking behavior property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006527 name: smoking status measurement def: "self-reported binary measure, used to denote whether an individual is currently or has ever been a smoker" [] is_a: EFO:0005671 ! smoking behaviour measurement relationship: IAO:0000136 EFO:0004318 ! is_about smoking behavior property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006528 name: 23132/87 def: "human gastric adenocarcinoma cell line established from the primary tumor of a 72-year-old man with gastric adenocarcinoma in 1987 confirmed as human with IEF of AST, MDH" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000178 ! gastric carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.cabri.org/CABRI/srs-bin/wgetz?-newId+-e+-page+qResult+[DSMZ_MUTZ-id:%27ACC%20201%27] xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006529 name: 2TS22C def: "mouse embryonic stem cells derived from 129/01a male mouse. Feeder-free cell line" [] is_a: EFO:0002887 ! mouse cell line relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation https://database.riken.jp/sw/en/2TS22C/cria322s1ria322u400000000125i/ xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006530 name: 5T33MM def: "mouse multiple myeloma cell line" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002887 ! mouse cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0001378 ! multiple myeloma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation "PMID: 11920212" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006531 name: 888-mel def: "human melanoma cell line designated 888-mel has been developed from the resected tumor of a 26-year old Caucasian female (patient 888) diagnosed with metastatic melanoma - See more at: https://ttc.nci.nih.gov/opportunities/opportunity.php?opp_id=34826089312#sthash.to7UCByK.dpuf" [] is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation https://ttc.nci.nih.gov/opportunities/opportunity.php?opp_id=34826089312 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006532 name: A3/KAW def: "human lymphoma cell line from a 68 year old female Japanese patient with stomach cancer and lymphoma" [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000574 ! lymphoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://cellbank.nibio.go.jp/legacy/celldata/jcrb0101.htm xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006533 name: A4/Fuk def: "human lymphoma cell line from a 52 year old female Japanese patient with malignant melanoma" [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000574 ! lymphoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://cellbank.nibio.go.jp/legacy/celldata/jcrb0097.htm xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006534 name: AMO-1 def: "human plasmacytoma cell line from a 64 year old female patient (DSMZ catalog number ACC 583)" [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0006738 ! plasmacytoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.dsmz.de/de/kataloge/catalogue/culture/ACC-538.html xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006535 name: ATRFLOX def: "human colorectal carcinoma cell line from an adult male patient (ATCC CRL-2780)" [] is_a: BTO:0001616 ! colorectal cancer cell line is_a: BTO:0003250 ! colonic epithelium cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.lgcstandards-atcc.org/products/all/CRL-2780.aspx?geo_country=gb xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006537 name: BEN def: "human carcinoma cell line established from the supraclavicular tumor cells-containing lymph node of a 71-year-old man with poorly differentiated carcinoma of the lung (DSMZ calatog number: ACC 254)" [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0001071 ! lung carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.cabri.org/CABRI/srs-bin/wgetz?-newId+-e+-page+qResult+[DSMZ_MUTZ-id:'ACC%20254'] xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006538 name: BFTC-909 def: "human cell carcinoma established from the sarcomatoid component of a grade III transitional cell carcinoma of the renal pelvis of a 64-year-old man in 1990; patient lived in a blackfoot disease endemic area in Taiwan (DSMZ catalog number ACC 367)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0001643 ! kidney derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0003017 ! transitional cell carcinoma of kidney relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://purl.obolibrary.org/obo/CLO_0001949 xsd:string property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-367.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006539 name: BHY def: "human oral squamous cell carcinoma established from the tumor of a 52-year-old Japanese man with highly differentiated squamous cell carcinoma of the lower alveolus which was highly invasive to the mandibular bone and the muscle layer of the oral floor (DSMZ catalog number ACC 404)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000199 ! oral squamous cell carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-404.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006540 name: BICR 10 def: "human recurrent squamous cell carcinoma of the buccal mucosa of a Caucasian female (Sigma catalog number 04072103)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000199 ! oral squamous cell carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/04072103?lang=en®ion= xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006541 name: BICR 22 def: "human cell line derived from a lymph node metastasis squamous cell carcinoma of the tongue of a Caucasian male (Sigma catalog number 04072106)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000707 ! squamous cell carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/04072106?lang=en®ion= xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006542 name: BICR 31 def: "human cell line derived from a lymph node metastasis squamous cell carcinoma of the tongue of a Caucasian male (Sigma catalog number 04072107)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000707 ! squamous cell carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/04072107?lang=en®ion= xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006543 name: BICR 78 def: "human cell line derived from a squamous cell carcinoma of the oral alveolus of a Caucasian male (Sigma catalog number 04072111)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000707 ! squamous cell carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/04072111?lang=en®ion= xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006544 name: bladder transitional cell carcinoma def: "The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival." [NCIT:P378] synonym: "bladder transitional cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "bladder transitional cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "bladder transitional cell carcinoma" EXACT [DOID:4006, NCIT:C39851] synonym: "bladder urothelial cancer" EXACT [NCIT:C39851] synonym: "bladder urothelial carcinoma" EXACT [NCIT:C39851] synonym: "BLCA" RELATED ABBREVIATION [ONCOTREE:BLCA] synonym: "transitional cell carcinoma of bladder" EXACT [DOID:4006] synonym: "transitional cell carcinoma of the urinary bladder" EXACT [NCIT:C39851] synonym: "urinary bladder transitional cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C39851] synonym: "urinary bladder urothelial carcinoma" EXACT [DOID:4006, NCIT:C39851] synonym: "urothelial bladder carcinoma" EXACT [DOID:4006] synonym: "urothelial carcinoma of the urinary bladder" EXACT [NCIT:C39851] xref: DOID:4006 {source="EFO:0006544", source="MONDO:equivalentTo"} xref: EFO:0006544 {source="MONDO:equivalentTo"} xref: MONDO:0005611 xref: NCIT:C39851 {source="EFO:0006544", source="DOID:4006", source="MONDO:equivalentTo"} xref: ONCOTREE:BLCA {source="MONDO:equivalentTo"} xref: SCTID:255109008 {source="DOID:4006", source="MONDO:equivalentTo"} xref: UMLS:C0279680 {source="EFO:0006544", source="DOID:4006", source="NCIT:C39851", source="MONDO:equivalentTo"} is_a: EFO:0008528 ! urothelial carcinoma is_a: MONDO:0004986 {source="DOID:4006", source="EFO:0006544", source="MONDO:Redundant", source="NCIT:C39851"} ! urinary bladder carcinoma property_value: closeMatch http://identifiers.org/snomedct/393562002 property_value: exactMatch DOID:4006 property_value: exactMatch DOID:4006 property_value: exactMatch http://identifiers.org/snomedct/255109008 property_value: exactMatch http://identifiers.org/snomedct/255109008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279680 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279680 property_value: exactMatch NCIT:C39851 property_value: exactMatch NCIT:C39851 [Term] id: EFO:0006545 name: brain glioblastoma def: "A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor." [NCIT:C4642] synonym: "brain glioblastoma" EXACT [] {comment="preferred label from MONDO"} synonym: "brain glioblastoma" EXACT [DOID:3073, NCIT:C4642] synonym: "brain glioblastoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "brain glioblastoma (disease)" EXACT [MONDO:patterns/location] synonym: "brain glioblastoma multiforme" EXACT [NCIT:C4642] synonym: "brain glioblastoma multiforme (disease)" EXACT [MONDO:patterns/location] synonym: "glioblastoma (disease) of brain" EXACT [] synonym: "glioblastoma multiforme of brain" EXACT [DOID:3073, NCIT:C4642] synonym: "glioblastoma multiforme of the brain" EXACT [NCIT:C4642] synonym: "grade IV astrocytic neoplasm of brain" EXACT [NCIT:C4642] synonym: "grade IV astrocytic neoplasm of the brain" EXACT [NCIT:C4642] synonym: "grade IV astrocytic tumor of brain" EXACT [NCIT:C4642] synonym: "grade IV astrocytic tumor of the brain" EXACT [NCIT:C4642] synonym: "grade IV astrocytic tumour of brain" EXACT OMO:0003005 [] synonym: "grade IV astrocytic tumour of the brain" EXACT OMO:0003005 [] synonym: "grade IV brain astrocytic neoplasm" EXACT [NCIT:C4642] synonym: "grade IV brain astrocytic tumor" EXACT [NCIT:C4642] synonym: "grade IV brain astrocytic tumour" EXACT OMO:0003005 [] xref: DOID:3073 {source="MONDO:equivalentTo"} xref: EFO:0006545 {source="MONDO:equivalentTo"} xref: MONDO:0002501 xref: NCIT:C4642 {source="MONDO:equivalentTo", source="DOID:3073"} xref: SCTID:276828006 {source="MONDO:equivalentTo", source="DOID:3073"} xref: UMLS:C0349543 {source="MONDO:equivalentTo", source="NCIT:C4642", source="DOID:3073"} is_a: EFO:0000519 {source="DOID:3073", source="MONDO:Redundant", source="NCIT:C4642"} ! glioblastoma multiforme is_a: MONDO:0005499 {source="DOID:3073", source="EFO:0006545/inferred", source="MONDO:Redundant"} ! brain glioma property_value: exactMatch DOID:3073 property_value: exactMatch DOID:3073 property_value: exactMatch http://identifiers.org/snomedct/276828006 property_value: exactMatch http://identifiers.org/snomedct/276828006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349543 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349543 property_value: exactMatch NCIT:C4642 property_value: exactMatch NCIT:C4642 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:0006546 name: C2BBe1 def: "human colorectal carcinoma cell line from a 72 year old male patient (ATCC CRL-2102)" [] is_a: BTO:0001616 ! colorectal cancer cell line is_a: BTO:0003250 ! colonic epithelium cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.lgcstandards-atcc.org/products/all/CRL-2102.aspx?geo_country=gb xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006547 name: CAL-12T def: "human cell lung carcinoma line established from a male patient with a non-small cell lung carcinoma in 1981 (DSMZ catalog number ACC 443)" [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0001071 ! lung carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-443.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006548 name: CaR-1 def: "human rectal carcinoma cell line establish from a metastatic lymph node of a 70-year-old male patient with primary rectal adenocarcinoma" [] is_a: BTO:0001616 ! colorectal cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://cellbank.nibio.go.jp/~cellbank/en/search_res_det.cgi?RNO=jcrb0207 xsd:string property_value: definition:citation "PMID: 2253219" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006549 name: CaSki def: "human cervical epidermoid carcinoma cell line from a 40 year old female Caucasian patient (ATCC CRL-1550)" [] xref: ATCC:CRL-1550 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000707 ! squamous cell carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.lgcstandards-atcc.org/products/all/CRL-1550.aspx?geo_country=gb xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006550 name: CCRF-SB def: "human lymphoma cell line from a 11.5 year old male Caucasian patient (ATCC CCL-120)" [] xref: ATCC:CCL-120 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000220 ! acute lymphoblastic leukemia relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.lgcstandards-atcc.org/products/all/CCL-120.aspx?geo_country=gb xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006551 name: CFPAC-1 def: "human ductal pancreatic adenocarcinoma derived by differential trypsinisation of explant cultures from a metastatic lesion in the liver of a 26 year old caucasian male with cystic fibrosis (Sigma catalog number 91112501)" [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005215 ! breast adenocarcinoma cell line relationship: has_characteristic EFO:0006318 ! breast ductal adenocarcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/91112501?lang=en®ion= xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006552 name: CMA-03 def: "human myeloma cell line derived from a peritoneal effusion of a patient with refractory myeloma" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0001378 ! multiple myeloma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation "PMID: 16266902" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006553 name: CMA-03/06 def: "human myeloma cell line derived from CMA03" [] is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0001000 EFO:0006552 ! derives_from CMA-03 property_value: definition:citation "PMID: 24327544" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006554 name: COLO 206F def: "human colon adenocarcinoma cell line established from the ascites fluid obtained from a 70-year-old male patient with adenocarcinoma of the colon (Sigma catalog number 93052620)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000228 ! adenocarcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/93052620?lang=en®ion=GB xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006555 name: COR-L26 def: "human large cell lung cancer bone marrow aspirate derived cell line established from a female patient (Sigma catalog number 96020740)" [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0003050 ! large cell lung carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/96020740?lang=en®ion=GB xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006556 name: COR-L47 def: "human lung cancer cell line derived from the bone marrow aspirate of a 67-year-old Caucasian male suffering from small cell lung carcinoma (Sigma catalog number 92031915)" [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000702 ! small cell lung carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/92031915?lang=en®ion=GB xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006557 name: COV413A def: "human ovarian epithelial-serous carcinoma cell line established from a metastasis of the sigmoid colon (Sigma catalog number 07071905)" [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002394 ! ovarian cancer cell lines is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0001075 ! ovarian carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/07071905?lang=en®ion=GB xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006558 name: COV413B def: "human ovarian epithelial-serous carcinoma cell line established from an intraperitoneal metastasis of the bladder dome (Sigma catalog number 07071906)" [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002394 ! ovarian cancer cell lines is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0001075 ! ovarian carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/07071906?lang=en®ion=GB xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006559 name: CPC-N def: "human small lung carcinoma cell line established from the pleural effusion metastasis of a patient with small cell lung carcinoma in 1987 (DSMZ catalog number ACC 306)" [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000702 ! small cell lung carcinoma property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-306.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006560 name: CW-2 def: "human colon carcinoma cell line" [] is_a: BTO:0001616 ! colorectal cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma property_value: definition:citation https://database.riken.jp/sw/en/CW-2/cria322s1ria322u100000000778i/ xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006561 name: CX-1 def: "human colon adenocarcinoma cell line established from the tumor tissue of a 44-year-old woman with well-differentiated colon adenocarcinoma in 1984 (DSMZ catalog number ACC 129)" [] is_a: BTO:0001616 ! colorectal cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-129.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006562 name: DAN-G def: "human pancreas carcinoma cell line established from a human individual with pancreas carcinoma in 1985 (DSMZ catalog number ACC 249)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002618 ! pancreatic carcinoma property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-249.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006563 name: DEOC-1 def: "human malignant melanoma cell line established from the heel lesion of a 59-year-old Japanese man" [] is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation "PMID: 17547717" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006564 name: DOK def: "human dysplastic oral keratinocyte cell line isolated from a piece of dorsal tongue from a 57 year old Caucasian man (Sigma catalog number 94122104)" [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0006566 ! dysplastic oral keratinocyte relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/94122104?lang=en®ion=GB xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006565 name: DV-90 def: "human lung adenocarcinoma established from the pleural effusion of a stage IV lung adenocarcinoma" [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: definition:citation "PMID: 7839470" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006566 name: dysplastic oral keratinocyte def: "Premalignant or precancerous (also referred to as “potentially malignant”) oral lesions involve the skin lining of the mouth (known as the epithelium) and may be at risk for becoming (transforming into) an oral cancer, although it is difficult to predict which lesions will transform and how long it will take." [] synonym: "oral cavity dysplasia" EXACT [] synonym: "oral epithelial dysplasia" EXACT [] synonym: "premalignant oral lesion" EXACT [] synonym: "premalignant oral lesions" EXACT [] is_a: EFO:0004199 ! dysplastic nevus property_value: definition:citation http://www.aaom.com/index.php?option=com_content&view=article&id=138:premalignant-oral-lesions&catid=22:patient-condition-information&Itemid=120 xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0006567 name: obsolete_E14Tg2a def: "mouse embryonic stem cell, blastocyst derived (ATCC CRL-1821)" [] synonym: "ES-E14TG2a" EXACT [] property_value: definition:citation http://www.lgcstandards-atcc.org/products/all/CRL-1821.aspx?geo_country=gb xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.65" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : EFO_0006275 label : ES-E14TG2a" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0006275 [Term] id: EFO:0006568 name: EFM-192A def: "human breast carcinoma cell line established from the pleural effusion of the left side (14 days after EFM-192A) of a 46-year-old Caucasian woman with breast adenocarcinoma (DSMZ catalog number ACC 311)" [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-311.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006569 name: EFM-192B def: "human breast carcinoma cell line established from the pleural effusion of the left side (14 days after EFM-192A) of a 46-year-old Caucasian woman with breast adenocarcinoma (DSMZ catalog number ACC 308)" [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-308.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006570 name: EFM-192C def: "human breast carcinoma cell line human breast carcinoma cell line established from the pleural effusion of the left side from a 46-year-old Caucasian woman with metastasizing breast adenocarcinoma in 1985 (DSMZ catalog number ACC 258)" [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-258.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006571 name: EFO-27 def: "human ovarian adenocarcinoma cell line established from the solid omental metastasis of a mucinous papillary adenocarcinoma of the ovary of a 36-year-old woman in 1979 (DSMZ catalog number ACC 191)" [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002394 ! ovarian cancer cell lines is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0006460 ! ovarian adenocarcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-191.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006572 name: EJM def: "human multiple myeloma cell line established from the peritoneal fluid of a 58-year-old woman with IgG lambda myeloma in 1988 at her terminal refractory stage (DSMZ catalog number ACC 560)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0001378 ! multiple myeloma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-560.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006573 name: EPLC-272H def: "human lung adenocarcinoma cell line established from a surgical lung specimen of a 57-year-old Caucasian man who underwent surgery for undifferentiated squamous cell carcinoma of the lung (without having received prior radiation or chemotherapy) in 1986 (DSMZ catalog number ACC 383)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000228 ! adenocarcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-383.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006574 name: EVSA-T def: "human breast carcinoma cell line established from the malignant ascitic effusion from a woman with metastatic breast carcinoma; described as being estrogen receptor-negative and progesterone receptor-positive (DSMZ catalog number ACC 433)" [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-433.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006575 name: GP2d def: "human colon adenocarcinoma cell line derived from a local recurrence of Duke′s grade B, poorly differentiated carcinoma of the colon from a 71 year old female at surgical resection (SIgma catalog number 95090714)" [] is_a: BTO:0003250 ! colonic epithelium cell line is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000228 ! adenocarcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/95090714?lang=en®ion=GB xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006576 name: GP5d def: "human colon adenocarcinoma cell line derived from a local recurrence of Duke′s grade B, poorly differentiated carcinoma of the colon from a 71 year old female at surgical resection (SIgma catalog number 95090715)" [] is_a: BTO:0003250 ! colonic epithelium cell line is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000228 ! adenocarcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/95090715?lang=en®ion=GB xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006577 name: GR-M def: "human melanoma obtained from the thorax of a 36 year old male with skin metastases having received no treatment at the time of the biopsy (Sigma catalog number 95032301)" [] is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/95032301?lang=en®ion=GB xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006578 name: GTL-16 def: "human gastric carcinoma cell line with amplification of the MET oncogene (Motoyama et al., 1986)" [] xref: RRID:CVCL_7668 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000178 ! gastric carcinoma property_value: definition:citation "PMID: 3962675" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006579 name: HEL def: "human erythroleukemia cell line derived from peripheral blood of a patient with Hodgkin's disease who later developed erythroleukemia" [] def: "Human erythroleukemia, established from the peripheral blood of a 30-year-old man with erythroleukemia (AML M6) in relapse (after treatment for Hodgkin's disease) in 1980; cells were described to be capable of spontaneous and induced globin synthesis" [] synonym: " GM06141" EXACT [] synonym: "GM06141B" EXACT [] xref: BTO:0000565 xref: RRID:CVCL_0001 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000218 ! acute erythroleukemia property_value: definition:citation "PMID: 6177045" xsd:string property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006580 name: HEY def: "human ovarian carcinoma cell line was derived from a human ovarian cancer xenograft (HX-62) originally grown from a peritoneal deposit of a patient with moderately differentiated papillary cystadenocarcinoma of the ovary (catalog number AKR-205)" [] is_a: EFO:0002394 ! ovarian cancer cell lines is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0001075 ! ovarian carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.cellbiolabs.com/sites/default/files/AKR-205-gfp-hey-cell-line.pdf xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006581 name: HGC-27 def: "human gastric carcinoma cell line established by culture of the metastatic lymph node from a gastric cancer patient diagnosed histologically as undifferentiated carcinoma" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000178 ! gastric carcinoma property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/94042256?lang=en®ion=GB xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006582 name: HMY-1 def: "human melanoma cell line established from metastasised lymph node of a 62 year old Japanese man" [] is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://cellbank.nibio.go.jp/legacy/celldata/jcrb1018.htm xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006583 name: HNT-34 def: "human acute myeloid leukemia cell line established in 1994 from the peripheral blood of a 47-year-old woman with acute myeloid leukemia (AML FAB M4) secondary to previous myelodysplastic syndromes (MDS), specifically chronic myelomonocytic leukemia (CMML) (DSMZ catalog number ACC-600)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000222 ! acute myeloid leukemia relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-600.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006584 name: Hs 255.T def: "human colon adenocarcinoma cell line from a 46 year old Caucasian woman (ATCC CRL-7213)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000228 ! adenocarcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.lgcstandards-atcc.org/products/all/CRL-7213.aspx?geo_country=gb xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006585 name: Hs 294T def: "human melanoma cell line from a 56 year old Caucasian male (ATCC HTB-140)" [] is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.lgcstandards-atcc.org/Products/All/HTB-140.aspx xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006586 name: Hs 38.T def: "human ovarian teratoma cell line from a female (ATCC CRL-7826)" [] is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0006463 ! ovarian teratoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://purl.obolibrary.org/obo/CLO_0003936 xsd:string property_value: definition:citation http://www.lgcstandards-atcc.org/Products/All/CRL-7826.aspx xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006587 name: Hs 675.T def: "human colorectal cancer cell line from a Caucasian male (ATCC CRL-7400)" [] is_a: BTO:0001616 ! colorectal cancer cell line is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic MONDO:0005575 ! colorectal cancer relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.lgcstandards-atcc.org/Products/All/CRL-7400.aspx xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006588 name: Hs 695T def: "human melanoma cell line from a 26 year old Caucasian male (ATCC HTB-137)" [] is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.lgcstandards-atcc.org/Products/All/HTB-137.aspx xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006589 name: Hs 746T def: "human gastric carcinoma cell line from a 74 year old Caucasian male (ATCC HTB-135)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000178 ! gastric carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.lgcstandards-atcc.org/Products/All/HTB-135.aspx xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006590 name: Hs 766T def: "human pancreatic carcinoma from a 46 year old Caucasian male (ATCC HTB-134)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002618 ! pancreatic carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.lgcstandards-atcc.org/Products/All/HTB-134.aspx xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006591 name: Hs 839.T def: "human melanoma cell line from a 42 year old Caucasian female (ATCC CRL-7572)" [] is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.lgcstandards-atcc.org/Products/All/CRL-7572.aspx xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006592 name: Hs 852.T def: "human melanoma cell line from a 53 year old Asian male (ATCC CRL-7585)" [] is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.lgcstandards-atcc.org/Products/All/CRL-7585.aspx xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006593 name: Hs 895.T def: "human melanoma cell line from a 48 year old Caucasian female (ATCC CRL-7637)" [] is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.lgcstandards-atcc.org/Products/All/CRL-7637.aspx xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006594 name: Hs 936.T def: "human melanoma cell line from a male (ATCC CRL-7686)" [] is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.lgcstandards-atcc.org/Products/All/CRL-7686_FL.aspx xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006595 name: Hs 940.T def: "human melanoma cell line from a 57 year old Caucasian male (ATCC CRL-7691)" [] is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.lgcstandards-atcc.org/Products/All/CRL-7691.aspx xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006596 name: HuP-T3 def: "human pancreatic adenocarcinoma cell line derived from an ascites sample taken from a 66 year old Japanese male with a poorly differentiated pancreatic adenocarcinoma (Sigma catlaog number 93121055)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002618 ! pancreatic carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/93121055?lang=en®ion=GB xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006597 name: IGR-37 def: "human melanoma established from the lymph node metastasis (groin) of a 26-year-old man with malignant melanoma (primary tumor histology: SSM level IV) (DSMZ catalog number ACC 237)" [] is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-237.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006598 name: IM95m def: "human stomach adenocarcinoma cell line from a 63 year old Japanese male with moderately differentiated adenocarcinoma of stomach" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000503 ! gastric adenocarcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://cellbank.nibio.go.jp/legacy/celldata/jcrb1075.1.htm xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006599 name: JHH-1 def: "human hepatocellular carcinoma cell line from a 50 year old Japanese male with complication of hepatic cirrhosis and hepatocellular carcinoma" [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005216 ! hepatoma cell line relationship: has_characteristic EFO:0000182 ! hepatocellular carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://cellbank.nibio.go.jp/legacy/celldata/jcrb1062.htm xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006600 name: JHH-2 def: "human hepatocellular carcinoma cell line from a 57 year old Japanese male with hepatocellular carcinoma" [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005216 ! hepatoma cell line relationship: has_characteristic EFO:0000182 ! hepatocellular carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://cellbank.nibio.go.jp/legacy/celldata/jcrb1028.htm xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006601 name: JHH-4 def: "human hepatocellular carcinoma cell line from a 51 year old Japanese male with hepatocellular carcinoma" [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005216 ! hepatoma cell line relationship: has_characteristic EFO:0000182 ! hepatocellular carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://cellbank.nibio.go.jp/legacy/celldata/jcrb0435.htm xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006602 name: JHH-5 def: "human hepatocellular carcinoma cell line from a 50 year old male with small liver cancer observed in the chronic hepatitis" [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005216 ! hepatoma cell line relationship: has_characteristic EFO:0000182 ! hepatocellular carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://cellbank.nibio.go.jp/legacy/celldata/jcrb1029.htm xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006603 name: JHH-7 def: "human hepatocellular carcinoma cell line from a 53 year old male with HBs-Ag positive hepato cellular carcinoma (Ed.III) with liver cirrhosis" [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005216 ! hepatoma cell line relationship: has_characteristic EFO:0000182 ! hepatocellular carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://cellbank.nibio.go.jp/legacy/celldata/jcrb1031.htm xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006604 name: JJ012 def: "human chondrosarcoma cell line" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000333 ! chondrosarcoma property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006605 name: JJN-3 def: "human leukemia cell line established from the bone marrow of a 57-year-old woman with plasma cell leukemia (IgA1kappa) at diagnosis in 1987 (DSMZ catalog number ACC 541)" [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0006475 ! plasma cell leukemia relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-541.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006606 name: KARPAS 1106P def: "human B-cell lymphoma cell line established from a pleural effusion of a 23 year old women with mediastinal lymphoblastic B-cell non-Hodgkin′s lymphoma (Sigma catalog number 06072607)" [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line is_a: EFO:0005292 ! lymphoblastoid cell line relationship: has_characteristic EFO:0000096 ! neoplasm of mature B-cells relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/06072607?lang=en®ion=GB xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006607 name: Kasumi-1 def: "human acute myeloid leukemia cell line established from the peripheral blood of a 7-year-old Japanese boy with acute myeloid leukemia (AML FAB M2) (in 2nd relapse after bone marrow transplantation) in 1989 (DSMZ catalog number AAC 2200" [] xref: BTO:0004136 xref: CLO:0007069 xref: RRID:CVCL_0589 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000222 ! acute myeloid leukemia relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-220.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006608 name: KCI-MOH1 def: "human pancreatic adenocarcinoma cell line from the moderately differentiated adenocarcinoma of the head of the pancreas from a 74-year-old African-American man in 1996 (DSMZ catalog number ACC 498)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002618 ! pancreatic carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-498.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006609 name: KHM-1B def: "human multiple myeloma cell line established from a pleural effusion of a 53 year old man with IgA lambda multiple myeloma with hyperamylasemia" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0001378 ! multiple myeloma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://bioinfoweb.com/CLDB-KHM-1B.htm xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006610 name: KLM-1 def: "human pancreatic carcinoma cell line" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002618 ! pancreatic carcinoma property_value: definition:citation https://database.riken.jp/sw/en/KLM-1/cria322s1ria322u100000002138i/ xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006611 name: KMM-1 def: "human multiple myeloma cell line from a 62 year old Japanese male" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0001378 ! multiple myeloma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://bioinfoweb.com/CLDB-KMM-1.htm xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006612 name: KMS-12-BM def: "human multiple myeloma cell line established from the bone marrow of a 64-year-old woman with multiple myeloma in 1988 (DSMZ catalog number ACC 551)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0001378 ! multiple myeloma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-551.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006613 name: KMS-12-PE def: "human multiple myeloma cell line established from the bone marrow of a 64-year-old woman with multiple myeloma in 1988" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0001378 ! multiple myeloma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation "PMID: 2479409" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006614 name: KMS-21-BM def: "human multiple myeloma cell line from a 62 year old Japanese male" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0001378 ! multiple myeloma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://bioinfoweb.com/CLDB-KMS-21BM.htm xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006615 name: KMS-26 def: "human multiple myeloma cell line from a 50 year old Japanese male" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0001378 ! multiple myeloma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://bioinfoweb.com/CLDB-KMS-26.htm xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006616 name: KMS-27 def: "human multiple myeloma cell line from a 52 year old Japanese male" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0001378 ! multiple myeloma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://cellbank.nibio.go.jp/~cellbank/en/search_res_det.cgi?RNO=jcrb1188 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006617 name: KMS-28BM def: "human multiple myeloma cell line from a 77 year old female" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0001378 ! multiple myeloma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://bioinfoweb.com/CLDB-KMS-28BM.htm xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006618 name: KMS-28PE def: "human multiple myeloma cell line from a 77 year old Japanese female" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0001378 ! multiple myeloma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://cellbank.nibio.go.jp/~cellbank/en/search_res_det.cgi?RNO=jcrb1191 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006619 name: KMS-34 def: "human multiple myeloma cell line from a 60 year old Japanese female" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0001378 ! multiple myeloma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://cellbank.nibio.go.jp/~cellbank/en/search_res_det.cgi?RNO=jcrb1195 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006620 name: KNS-62 def: "human non-small cell lung carcinoma line established from a 49 year old male patient with a non-small cell lung carcinoma" [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0003060 ! non-small cell lung carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006621 name: KP-2 def: "human pancreatic carcinoma cell line established from a 50 year old Japanese male with pancreatic ductal cell carcinoma" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002618 ! pancreatic carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://cellbank.nibio.go.jp/legacy/celldata/jcrb0182.htm xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006622 name: KP-3 def: "human pancreatic adenosquamous carcinoma cell line from a 75 year old Japanese male" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0006732 ! pancreatic adenosquamous carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation "PMID: 25485618" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006623 name: KP-4 def: "human pancreatic ductal carcinoma cell line from a 50 year old Japanese male" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002517 ! pancreatic ductal adenocarcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://bioinfoweb.com/CLDB-KP-4.htm xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006624 name: KPL-4 def: "human breast ductal adenocarcinoma cell line from a 52 year old Japanese female" [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005215 ! breast adenocarcinoma cell line relationship: has_characteristic EFO:0006318 ! breast ductal adenocarcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006625 name: KURAMOCHI def: "human ovarian carcinoma from a Japanese female with ovarian cancer, undifferentiated carcinoma" [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002394 ! ovarian cancer cell lines is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0001075 ! ovarian carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://cellbank.nibio.go.jp/legacy/celldata/jcrb0098.htm xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006626 name: KYSE-140 def: "human esophageal squamous carcinoma cell line derived from the moderately differentiated invasive esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 54-year-old Japanese man prior to treatment (DSMZ catalog number ACC 348)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0005922 ! esophageal squamous cell carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-348.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006627 name: KYSE-150 def: "human esophageal squamous carcinoma cell line established from the poorly differentiated esophageal squamous cell carcinoma resected from upper (cervical) esophagus of a 49-year-old Japanese woman after receiving radiotherapy (DSMZ catalog number ACC 375)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0005922 ! esophageal squamous cell carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-375.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006628 name: KYSE-180 def: "human esophageal squamous carcinoma cell line established from the well differentiated esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 53-year-old Japanese man prior to treatment (DSMZ catalog number ACC 379)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0005922 ! esophageal squamous cell carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-379.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006629 name: KYSE-270 def: "human esophageal squamous carcinoma cell line derived from well differentiated invasive esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 79-year-old Japanese man prior to treatment (DSMZ catalog number ACC 380)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0005922 ! esophageal squamous cell carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-380.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006630 name: KYSE-450 def: "human esophageal squamous carcinoma cell line established from the well differentiated invasive eosphageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 59-year-old Japanese man prior to treatment (DSMZ catalog number ACC 387)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0005922 ! esophageal squamous cell carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-387.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006631 name: KYSE-510 def: "human esophageal squamous carcinoma cell line established from the well-differentiated eosphageal squamous cell carcinoma with moderate invasion of the adventitia resected from cervical esophagus of a 67-year-old Japanese woman after cisplatin and radiotherapy (DSMZ catalog number ACC 374)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0005922 ! esophageal squamous cell carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-374.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006632 name: KYSE-520 def: "human esophageal squamous carcinoma cell line established from the moderately differentiated invasive eosphageal squamous cell carcinoma resected from lower intra-thoracic esophagus of a 58-year-old Japanese woman prior to treatment (DSMZ catalog number ACC 371)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0005922 ! esophageal squamous cell carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-371.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006633 name: KYSE-70 def: "human esophageal squamous carcinoma cell line established from the poorly differentiated invasive esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 77-year-old Japanese man prior to treatment (DSMZ catalog number ACC 363)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0005922 ! esophageal squamous cell carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-363.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006634 name: LCLC-103H def: "human large cell lung carcinoma cell line established from the pleural effusion of a 61-year-old Caucasian man with large cell lung carcinoma with giant cells who had received chemo- and radiotherapy (DSMZ catalog number ACC 384)" [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0003050 ! large cell lung carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-384.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006635 name: LCLC-97TM1 def: "human large cell lung carcinoma cell line that represents the xenotransplant of a primary tumor which was obtained from a 44-year-old Caucasian man with large cell lung carcinoma who did not have any prior therapy (DSMZ catalog number ACC 388)" [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0003050 ! large cell lung carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-388.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006636 name: LN-18 def: "human brain glioblastoma cell line from a 65 year old male of white ethnicity (ATCC CRL-2610)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0006545 ! brain glioblastoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.lgcstandards-atcc.org/products/all/CRL-2610.aspx?geo_country=gb xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006637 name: LN-229 def: "human brain glioblastoma cell line from a 60 year old female of white ethnicity (ATCC CRL-2611)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0006545 ! brain glioblastoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.lgcstandards-atcc.org/Products/All/CRL-2611.aspx xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006638 name: LOU-NH91 def: "human lung squamous carcinoma cell line established from the lower right lung lobe removed two months after diagnosis of highly differentiated squamous cell lung carcinoma with metastasis to one lymph node (no visceral involvement) in a 64-year-old woman (DSMZ catalog number ACC 393)" [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000708 ! squamous cell lung carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-393.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006639 name: LoVo def: "human colorectal adenocarcinoma cell line established from the metastatic nodule resected from a 56-year-old Caucasian man with colon adenocarcinoma in 1972 (DSMZ catalog number ACC 350)" [] is_a: BTO:0001616 ! colorectal cancer cell line is_a: BTO:0003250 ! colonic epithelium cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-350.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006640 name: LS 180 def: "human colorectal adenocarcinoma cell line from a 58 year old Caucasian female (ATCC CL-187)" [] is_a: BTO:0001616 ! colorectal cancer cell line is_a: BTO:0003250 ! colonic epithelium cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.lgcstandards-atcc.org/products/all/CL-187.aspx?geo_country=gb xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006641 name: LXF-289 def: "human lung adenocarcinoma established from the lung adenocarcinoma of a 63 year old male (DSMZ catalog number ACC 265)" [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-265.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006642 name: LXFL529 def: "human non-small cell lung carcinoma cell line" [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0003060 ! non-small cell lung carcinoma property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006643 name: MCF10DCIS.COM def: "clonal breast cancer cell line derived from a xenograft originating from premalignant MCF10AT cells" [] is_a: EFO:0002888 ! Homo sapiens cell line property_value: definition:citation "PMID: 23401782" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006644 name: MDST8 def: "human colon carcinoma cell line establlished from human colorectal tumor explants (Sigma catalog number 99011801)" [] is_a: BTO:0001616 ! colorectal cancer cell line is_a: BTO:0003250 ! colonic epithelium cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/99011801?lang=en®ion=GB xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006645 name: ME-1 def: "human acute myeloid leukemia cell line established from the peripheral blood of a 40-year-old Japanese man with acute myeloid leukemia (AML) FAB M4eo at second relapse in 1988 (DSMZ catalog number ACC 357)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000222 ! acute myeloid leukemia relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-537.html xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006646 name: ME-180 def: "human epidermoid carcinoma cell line from a 66 year old Caucasian female (ATCC HTB-33)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000707 ! squamous cell carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.lgcstandards-atcc.org/products/all/HTB-33.aspx?geo_country=gb xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006647 name: MEL-HO def: "human skin melanoma cell line established from the primary tumor of a woman with melanoma in 1976 (DSMZ catalog number ACC 62)" [] is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-62.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006648 name: MeWo def: "human skin melanoma cell line from a 78 year old Caucasian male" [] is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.lgcstandards-atcc.org/products/all/HTB-65.aspx?geo_country=gb xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006649 name: MFM-223 def: "human mammary carcinoma cell line obtained from the pleural effusion of a postmenopausal breast cancer patient (Sigma catalog number 98050130)" [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005215 ! breast adenocarcinoma cell line relationship: has_characteristic EFO:0000304 ! breast adenocarcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/98050130?lang=en®ion=GB xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006650 name: MHH-ES-1 def: "human Ewings' sarcoma cell line established from the ascites of a 12-year-old Turkish boy with Ewing's sarcoma of the left pelvis (with peritoneal metastasis) (DSMZ catalog number ACC 167)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000174 ! Ewing sarcoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-167.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006651 name: MHH-NB-11 def: "human brain neuroblastoma cell line established from a neuroblastoma metastasis at an adrenal site of a 4-year-old white boy in 1986 (DSMZ catalog number ACC 157)" [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005214 ! neuroblastoma cell line relationship: has_characteristic EFO:0000621 ! neuroblastoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-157.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006652 name: MOLM-16 def: "human acute myeloid leukemia cell line established in 1999 from the peripheral blood of a 77-year-old Japanese woman at relapse of acute myeloid leukemia (DSMZ catalog number ACC 555)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000222 ! acute myeloid leukemia relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-555.html xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006653 name: MOLP-2 def: "human multiple myeloma cell line established from the peripheral blood of a 55-year-old man with IgD lambda type multiple myeloma in 1991 (DSMZ catalog number ACC 607)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0001378 ! multiple myeloma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-607.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006654 name: MOLP-8 def: "human multiple myeloma cell line established from the peripheral blood of a 52-year-old Japanese man with multiple myeloma (stage IIIA, type IgD lambda) in 2002 (DSMZ catalog number ACC 569)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0001378 ! multiple myeloma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-569.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006655 name: MOR def: "human lung adenocarcinoma cell line (Sigma catalog number 84112312)" [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/84112312?lang=en®ion=GB xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006656 name: mPAC L20 def: "mouse cell line produced from pancreatic islets isolated from juvenile but not aging adult mice, when infected with a retrovirus carrying polyomavirus middle T oncogene" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002887 ! mouse cell line relationship: has_characteristic EFO:0002517 ! pancreatic ductal adenocarcinoma property_value: definition:citation http://purl.obolibrary.org/obo/BCGO_0000121 xsd:string property_value: definition:citation "PMID: 7521578" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006657 name: NCI-H1373 def: "human lung adenocarcinoma cell line from a 56 year old African male" [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006658 name: NCI-H1435 def: "human non-small cell lung carcinoma cell line from a 35 year old female (ATCC CRL-5870)" [] xref: ATCC:CRL-5870 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0003060 ! non-small cell lung carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.lgcstandards-atcc.org/products/all/CRL-5870.aspx?geo_country=gb xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006659 name: NCI-H146 def: "human small cell lung carcinoma cell line established from a 59 year old Caucasian male (ATCC HTB-173)" [] xref: ATCC:HTB-173 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000702 ! small cell lung carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.lgcstandards-atcc.org/products/all/HTB-173.aspx?geo_country=gb xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006660 name: NCI-H1568 def: "human non-small cell lung carcinoma cell line from a 48 year old Caucasian female (ATCC CRL-5876)" [] xref: ATCC:CRL-5876 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0003060 ! non-small cell lung carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.lgcstandards-atcc.org/Products/All/CRL-5876.aspx xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006661 name: NCI-H1693 def: "human non-small cell lung carcinoma cell line from a 55 year old Caucasian female (ATCC CRL-5887)" [] xref: ATCC:CRL-5887 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0003060 ! non-small cell lung carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.lgcstandards-atcc.org/Products/All/CRL-5887.aspx xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006662 name: NCI-H1734 def: "human non-small cell lung carcinoma cell line from a 56 year old female (ATCC CRL-5891)" [] xref: ATCC:CRL-5891 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0003060 ! non-small cell lung carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.lgcstandards-atcc.org/Products/All/CRL-5891.aspx xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006663 name: NCI-H1781 def: "human lung adenocarcinoma cell line from a 66 year old Caucasian female (ATCC CRL-5894)" [] xref: ATCC:CRL-5894 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.lgcstandards-atcc.org/Products/All/CRL-5894.aspx xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006664 name: NCI-H1869 def: "human non-small cell lung carcinoma cell line from a 58 year old Caucasian male ATCC CRL-5900)" [] xref: ATCC:CRL-5900 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0003060 ! non-small cell lung carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.lgcstandards-atcc.org/Products/All/CRL-5900.aspx xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006665 name: NCI-H1882 def: "human small cell lung carcinoma cell line from a 59 year old Caucasian male (ATCC CRL-5903)" [] xref: ATCC:CRL-5903 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000702 ! small cell lung carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.lgcstandards-atcc.org/Products/All/CRL-5903.aspx xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006666 name: NCI-H1915 def: "human non-small cell lung carcinoma cell line from a 61 year old Caucasian female (ATCC CRL-5904)" [] xref: ATCC:CRL-5904 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0003060 ! non-small cell lung carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.lgcstandards-atcc.org/Products/All/CRL-5904.aspx xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006667 name: NCI-H1944 def: "human non-small cell lung carcinoma cell line from a 62 year old Caucasian female (ATCC CRL-5907)" [] xref: ATCC:CRL-5907 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0003060 ! non-small cell lung carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.lgcstandards-atcc.org/Products/All/CRL-5907.aspx xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006668 name: NCI-H196 def: "human small cell lung carcinoma cell line from a 68 year old Caucasian male (ATCC CRL-5823)" [] xref: ATCC:CRL-5823 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000702 ! small cell lung carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.lgcstandards-atcc.org/Products/All/CRL-5823.aspx xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006669 name: NCI-H2023 def: "human non-small cell lung carcinoma cell line from a 26 year old Caucasian male (ATCC CRL-5912)" [] xref: ATCC:CRL-5912 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0003060 ! non-small cell lung carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.lgcstandards-atcc.org/Products/All/CRL-5912.aspx xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006670 name: NCI-H2073 def: "human lung adenocarcinoma cell line from a 47 year old Caucasian female (ATCC CRL-5918)" [] xref: ATCC:CRL-5918 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.lgcstandards-atcc.org/Products/All/CRL-5918.aspx xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006671 name: NCI-H209 def: "human small cell lung carcinoma cell line from a Caucasian male (ATCC HTB-172)" [] synonym: "H209" EXACT [] xref: ATCC:HTB-172 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000702 ! small cell lung carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.lgcstandards-atcc.org/Products/All/HTB-172.aspx xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006672 name: NCI-H2106 def: "human non-small cell lung carcinoma cell line from a 58 year old Caucasian male (ATCC CRL-5923)" [] xref: ATCC:CRL-5923 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0003060 ! non-small cell lung carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.lgcstandards-atcc.org/Products/All/CRL-5923.aspx xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006673 name: NCI-H2110 def: "human non-small cell lung carcinoma cell line (ATCC CRL-5924)" [] xref: ATCC:CRL-5924 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0003060 ! non-small cell lung carcinoma property_value: definition:citation http://www.lgcstandards-atcc.org/Products/All/CRL-5924.aspx xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006674 name: NCI-H2135 def: "human non-small cell lung carcinoma cell line (ATCC CRL-5926)" [] xref: ATCC:CRL-5926 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0003060 ! non-small cell lung carcinoma property_value: definition:citation http://www.lgcstandards-atcc.org/Products/All/CRL-5926.aspx xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006675 name: NCI-H2172 def: "human non-small cell lung carcinoma cell line established from a female (ATCC CRL-5930)" [] xref: ATCC:CRL-5930 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0003060 ! non-small cell lung carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.lgcstandards-atcc.org/Products/All/CRL-5930.aspx xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006676 name: NCI-H2196 def: "human small cell lung carcinoma cell line from a 67 year old Caucasian male (ATCC CRL-5932)" [] xref: ATCC:CRL-5932 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000702 ! small cell lung carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.lgcstandards-atcc.org/Products/All/CRL-5932.aspx xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006677 name: NCI-H2198 def: "human small cell lung carcinoma cell line from a 67 year old Caucasian male (ATCC CRL-5933)" [] xref: ATCC:CRL-5933 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000702 ! small cell lung carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.lgcstandards-atcc.org/Products/All/CRL-5933.aspx xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006678 name: NCI-H2369 def: "human lung mesothelioma cell line" [] is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000588 ! mesothelioma property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006679 name: NCI-H2373 def: "human lung mesothelioma cell line" [] is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000588 ! mesothelioma property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006680 name: NCI-H2452 def: "human lung mesothelioma cell line (ATCC CRL-5946)" [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000588 ! mesothelioma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.lgcstandards-atcc.org/products/all/CRL-5946.aspx?geo_country=gb xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006681 name: NCI-H2461 def: "human lung mesothelioma cell line" [] is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000588 ! mesothelioma property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006682 name: NCI-H2595 def: "human lung mesothelioma cell line" [] is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000588 ! mesothelioma property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006683 name: NCI-H2596 def: "human lung mesothelioma cell line" [] is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000588 ! mesothelioma property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006684 name: NCI-H2722 def: "human lung mesothelioma cell line" [] is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000588 ! mesothelioma property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006685 name: NCI-H2795 def: "human lung mesothelioma cell line" [] is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000588 ! mesothelioma property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006686 name: NCI-H28 def: "Human lung carcinoma" [] def: "human lung mesothelioma cell line from a 48 year old Caucasian male (ATCC CRL-5820)" [] synonym: "HUT-28" EXACT [] xref: ATCC:CRL-5820 xref: CLO:0008079 xref: RRID:CVCL_1555 is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000588 ! mesothelioma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.lgcstandards-atcc.org/products/all/CRL-5820.aspx?geo_country=gb xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006687 name: NCI-H2803 def: "human lung mesothelioma cell line" [] is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000588 ! mesothelioma property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006688 name: NCI-H2804 def: "human lung mesothelioma cell line" [] is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000588 ! mesothelioma property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006689 name: NCI-H2810 def: "human lung mesothelioma cell line" [] is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000588 ! mesothelioma property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006690 name: NCI-H292 def: "human pulmonary mucoepidermoid carcinoma cell line derived from a cervical node metastasis of a pulmonary mucoepidermoid carcinoma from a 32 year old female (SIGMA catalog number 91091815)" [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0006740 ! pulmonary mucoepidermoid carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/91091815?lang=en®ion=GB xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006691 name: NCI-H322T def: "human non-small cell lung carcinoma cell line" [] synonym: "H322T" EXACT [] synonym: "NCI-H322" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0003060 ! non-small cell lung carcinoma property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006692 name: NCI-H345 def: "human small cell lung carcinoma cell line from a 64 year old Caucasian male (ATCC HTB-180)" [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000702 ! small cell lung carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.lgcstandards-atcc.org/products/all/HTB-180.aspx?geo_country=gb xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006693 name: NCI-H510A def: "human small cell lung carcinoma cell line from a 56 year old Caucasian male (ATCC HTB-184)" [] xref: ATCC:HTB-184 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000702 ! small cell lung carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.lgcstandards-atcc.org/Products/All/HTB-184.aspx xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006694 name: NCI-H596 def: "human adenosquamous lung carcinoma cell line from a 73 year old Caucasian male (ATCC HTB-178)" [] xref: ATCC:HTB-178 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000233 ! adenosquamous lung carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.lgcstandards-atcc.org/Products/All/HTB-178.aspx xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006695 name: NCI-H727 def: "human non-small cell lung carcinoma cell line from the lung of a 65 year old Caucasian female with a non-small cell lung carcinoma, prior to treatment (SIGMA catalog number 94060303)" [] synonym: "H-727" EXACT [] synonym: "H727" EXACT [] xref: BTO:0005915 xref: CLO:0008111 xref: RRID:CVCL_1584 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0003060 ! non-small cell lung carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/94060303?lang=en®ion=GB xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006696 name: NCI-H847 def: "human small cell lung carcinoma cell line from a 63 year old Caucasian male (ATCC CRL-5846)" [] xref: ATCC:CRL-5846 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000702 ! small cell lung carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.lgcstandards-atcc.org/Products/All/CRL-5846.aspx xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006697 name: NCI-H889 def: "human small cell lung carcinoma cell line from a 69 year old Caucasian female (ATCC CRL-5817)" [] xref: ATCC:CRL-5817 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000702 ! small cell lung carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.lgcstandards-atcc.org/Products/All/CRL-5817.aspx xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006698 name: NCI-H920 def: "human non-small cell lung carcinoma cell line from a 43 year old Caucasian male (ATCC CRL-5850)" [] xref: ATCC:CRL-5850 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0003060 ! non-small cell lung carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.lgcstandards-atcc.org/Products/All/CRL-5850.aspx xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006699 name: NOF151 def: "human normal ovarian fibroblast cell line" [] is_a: EFO:0002888 ! Homo sapiens cell line property_value: definition:citation "PMID: 17060621" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006700 name: NU-DUL-1 def: "human B-cell non-Hodgkin lymphoma cell line established in 1982 from the cerebrospinal fluid of a 43-year-old Caucasian man with B-cell non-Hodgkin lymphoma (DSMZ catalog number ACC 579)" [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000096 ! neoplasm of mature B-cells relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-579.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006701 name: NUGC-2 def: "human stomach adenocarcinoma cell line from a 56 year old female" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000503 ! gastric adenocarcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://cellbank.nibio.go.jp/legacy/celldata/jcrb0821.htm xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006702 name: NUGC-3 def: "human stomach adenocarcinoma cell line from a 72 year old male" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000503 ! gastric adenocarcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://cellbank.nibio.go.jp/legacy/celldata/jcrb0822.htm xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006703 name: NUGC-4 def: "human stomach adenocarcinoma cell line from a 35 year old female" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000503 ! gastric adenocarcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://cellbank.nibio.go.jp/legacy/celldata/jcrb0834.htm xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006704 name: OAW28 def: "human ovarian serous cystadenocarcinoma cell line from an ascites of patient with ovarian cystadenocarcinoma (Sigma catalog number 85101601)" [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002510 ! serous cystadenofibroma property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/85101601?lang=en®ion=GB xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006705 name: OAW42 def: "human ovarian serous cystadenocarcinoma cell line from an ascites of patient with ovarian cystadenocarcinoma (Sigma catalog number 85073102)" [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002510 ! serous cystadenofibroma property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/85073102?lang=en®ion=GB xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006706 name: OCI-AML2 def: "human acute myeloid leukemia cell line established from the peripheral blood of a 65-year-old man with acute myeloid leukemia (AML FAB M4) in 1986 (DSMZ catalog number ACC 99)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000222 ! acute myeloid leukemia relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.dsmz.de/de/kataloge/catalogue/culture/ACC-99.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006707 name: OCI-AML5 def: "human acute myeloid leukemia cell line established from the peripheral blood of a 77-year-old man with acute myeloid leukemia (AML M4) in relapse in 1990 (DSMZ catalog number ACC 247)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000222 ! acute myeloid leukemia relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-247.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006708 name: OCI-LY10 def: "human B-cell non-Hodgkin lymphoma cell line established from the bone marrow of a 44-year-old man with B-cell non-Hodgkin lymphoma (B-NHL; diffuse large cell), stage 4B at relapse in 1983 (DSMZ catalog number ACC 722)" [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000096 ! neoplasm of mature B-cells relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-722.html xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006709 name: OCI-LY19 def: "human B-cell non-Hodgkin lymphoma cell line established from the bone marrow of a 27-year-old woman with B-cell non-Hodgkin lymphoma (B-NHL) in 1987 (DSMZ catalog number ACC 528)" [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000096 ! neoplasm of mature B-cells relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-528.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006710 name: OCI-LY3 def: "human B-cell non-Hodgkin lymphoma cell line established in 1983 from the bone marrow sample of a 52-year-old man with B-cell non-Hodgkin lymphoma (DSMZ catalog number Acc 761)" [] synonym: "Oci-Ly-3" EXACT [] synonym: "Oci-Ly-3 cell" EXACT [] xref: PMID:11807979 xref: RRID:CVCL_8800 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line is_a: EFO:0005906 ! B-cell non-Hodgkin lymphoma cell line relationship: has_characteristic EFO:0000096 ! neoplasm of mature B-cells relationship: RO:0000086 PATO:0000384 ! has_quality male relationship: RO:0001000 UBERON:0002371 ! derives_from bone marrow property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-761.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006711 name: OCI-LY7 def: "human B-cell non-Hodgkin lymphoma cell line established from the peripheral blood sample of a 48-year-old man with B-cell non-Hodgkin lymphoma in 1984 (DSMZ catalog number ACC 688)" [] xref: PMID:11807979 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line is_a: EFO:0005906 ! B-cell non-Hodgkin lymphoma cell line relationship: has_characteristic EFO:0000096 ! neoplasm of mature B-cells relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-688.html xsd:string property_value: definition:citation https://www.dsmz.de/catalogues/details/culture/ACC-688.html xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006712 name: OCI-M1 def: "human acute myeloid leukemia cell line established from erythroleukemia blasts (AML M6) of a 62-year-old patient following a 7-year chlorambucil treatment for chronic lymphocytic leukemia (DSMZ catalog number ACC 529)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000222 ! acute myeloid leukemia property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-529.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006713 name: OCI-M2 def: "human acute myeloid leukemia cell line established in 1984 from the leukemic cells of a 56-year-old patient with erythroleukemia (DSMZ catalog number ACC 619)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000222 ! acute myeloid leukemia property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-619.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006714 name: OCUM-1 def: "human stomach adenocarcinoma cell line from a 38 year old Japanese adult" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000503 ! gastric adenocarcinoma property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006715 name: Okajima def: "human stomach adenocarcinoma cell line" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000503 ! gastric adenocarcinoma property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006716 name: OPM-2 def: "human multiple myeloma cell line established from the peripheral blood of a 56-year-old woman with multiple myeloma (IgG lambda) in leukemic phase (relapse, terminal) in 1982 (DSMZ catalog number ACC 50)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0001378 ! multiple myeloma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-50.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006717 name: OUMS-23 def: "human colon adenocarcinoma cell line established from a male" [] is_a: BTO:0001616 ! colorectal cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006718 name: ovarian leiomyosarcoma def: "An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C5234] synonym: "leiomyosarcoma of ovary" EXACT [DOID:5263, NCIT:C5234] synonym: "leiomyosarcoma of the ovary" EXACT [NCIT:C5234] synonym: "ovarian leiomyosarcoma" EXACT [MONDO:0005612, NCIT:C5234] synonym: "ovary leiomyosarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "ovary leiomyosarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "ovary leiomyosarcoma" EXACT [MONDO:patterns/location] xref: DOID:5263 {source="MONDO:equivalentTo"} xref: EFO:0006718 {source="MONDO:equivalentTo"} xref: MONDO:0003355 xref: NCIT:C5234 {source="MONDO:equivalentTo", source="EFO:0006718", source="DOID:5263"} xref: UMLS:C1335163 {source="MONDO:equivalentTo", source="NCIT:C5234", source="EFO:0006718", source="DOID:5263"} is_a: EFO:0000564 {source="DOID:5263", source="EFO:0006718", source="MONDO:Redundant", source="NCIT:C5234/inferred"} ! leiomyosarcoma is_a: MONDO:0002225 {source="DOID:5263", source="MONDO:Redundant", source="NCIT:C5234"} ! ovarian sarcoma relationship: EFO:0000784 UBERON:0000992 ! has_disease_location ovary property_value: exactMatch DOID:5263 property_value: exactMatch DOID:5263 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335163 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335163 property_value: exactMatch NCIT:C5234 property_value: exactMatch NCIT:C5234 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/leiomyosarcoma.yaml property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:0006719 name: mesonephric adenocarcinoma def: "An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants." [NCIT:C4072] synonym: "malignant Mesonephroma" EXACT [NCIT:C4072] synonym: "malignant mesonephroma" EXACT [NCIT:C4072] synonym: "mesonephric adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "mesonephric adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:0006719 {source="MONDO:equivalentTo"} xref: ICDO:9110/3 {source="NCIT:C4072"} xref: MONDO:0005613 xref: NCIT:C4072 {source="MONDO:equivalentTo", source="EFO:0006719"} is_a: EFO:0000228 {source="EFO:0006719", source="NCIT:C4072"} ! adenocarcinoma is_a: EFO:0005771 ! ovarian disease relationship: EFO:0000784 UBERON:0000992 ! has_disease_location ovary property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0025490 property_value: exactMatch NCIT:C4072 property_value: exactMatch NCIT:C4072 [Term] id: EFO:0006720 name: OVCA420 def: "human ovarian carcinoma cell line established from a female" [] xref: BTO:0002563 xref: RRID:CVCL_3935 is_a: EFO:0002394 ! ovarian cancer cell lines is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0001075 ! ovarian carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006721 name: OVCA429 def: "human ovarian adenocarcinoma cell line established from a female" [] is_a: EFO:0002394 ! ovarian cancer cell lines is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0006460 ! ovarian adenocarcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006722 name: OVCA432 def: "human ovarian carcinoma cell line established from a female" [] xref: BTO:0002565 xref: CLO:0008278 xref: RRID:CVCL_3769 is_a: EFO:0002394 ! ovarian cancer cell lines is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0001075 ! ovarian carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006723 name: OVCA433 def: "human ovarian carcinoma cell line" [] synonym: "OV433" EXACT [] synonym: "OVCAR433" EXACT [] synonym: "SK-OV-433" EXACT [] synonym: "SKOV-433" EXACT [] xref: BTO:0002566 xref: PMID:25485619 xref: RRID:CVCL_0475 is_a: EFO:0002394 ! ovarian cancer cell lines is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0001075 ! ovarian carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation "PMCID: PMC370929" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006724 name: OVISE def: "human ovarian carcinoma cell line from a 40 year old Japanese female" [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002394 ! ovarian cancer cell lines is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0001075 ! ovarian carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://cellbank.nibio.go.jp/legacy/celldata/jcrb1043.htm xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006725 name: OVKATE def: "human ovarian adenocarcinoma cell line from a 40 year old Japanese female" [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002394 ! ovarian cancer cell lines is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0006460 ! ovarian adenocarcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://cellbank.nibio.go.jp/legacy/celldata/jcrb1044.htm xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006726 name: OVMANA def: "human ovarian adenocarcinoma cell line from a 51 year old Japanese female" [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002394 ! ovarian cancer cell lines is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0006460 ! ovarian adenocarcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://cellbank.nibio.go.jp/legacy/celldata/jcrb1045.htm xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006727 name: OVSAHO def: "human ovarian adenocarcinoma cell line from a 56 year old Japanese female" [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002394 ! ovarian cancer cell lines is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0006460 ! ovarian adenocarcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://cellbank.nibio.go.jp/legacy/celldata/jcrb1046.htm xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006728 name: OVTOKO def: "human ovarian adenocarcinoma cell line from a 78 year old Japanese female" [] is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002394 ! ovarian cancer cell lines is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0006460 ! ovarian adenocarcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://cellbank.nibio.go.jp/legacy/celldata/jcrb1048.htm xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006729 name: PA-TU-8902 def: "human pancreatic adenocarcinoma cell line" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002618 ! pancreatic carcinoma property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006730 name: PA-TU-8988S def: "human pancreatic adenocarcinoma cell line from a 64 year old female" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002618 ! pancreatic carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006731 name: obsolete_PA-TU-8988T def: "human pancreatic adenocarcinoma cell line established in 1985 from the liver metastasis of a primary pancreatic adenocarcinoma from a 64-year-old woman (DSMZ catalog number ACC 162)" [] property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-162.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.65" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : EFO_0005713 label : 8988T" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0005713 [Term] id: EFO:0006732 name: pancreatic adenosquamous carcinoma def: "A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma." [NCIT:C5721] synonym: "adenosquamous carcinoma of pancreas" EXACT [DOID:5637, NCIT:C5721] synonym: "adenosquamous carcinoma of the pancreas" EXACT [DOID:5637, NCIT:C5721] synonym: "adenosquamous pancreas carcinoma" EXACT [MONDO:0003560] synonym: "PAASC" RELATED ABBREVIATION [ONCOTREE:PAASC] synonym: "pancreas adenosquamous carcinoma" EXACT [MONDO:patterns/location] synonym: "pancreatic adenoacanthoma" EXACT [NCIT:C5721] synonym: "pancreatic adenosquamous cancer" EXACT [NCIT:C5721] synonym: "pancreatic adenosquamous carcinoma" EXACT [NCIT:C5721] synonym: "pancreatic adenosquamous carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "pancreatic adenosquamous carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "pancreatic mixed squamous and adenocarcinoma" EXACT [NCIT:C5721] synonym: "pancreatic mucoepidermoid carcinoma" EXACT [NCIT:C5721] xref: DOID:5637 {source="MONDO:equivalentTo"} xref: EFO:0006732 {source="MONDO:equivalentTo"} xref: MONDO:0005614 xref: NCIT:C5721 {source="EFO:0006732", source="MONDO:equivalentTo", source="DOID:5637"} xref: ONCOTREE:PAASC {source="MONDO:equivalentTo"} xref: UMLS:C1335299 {source="MONDO:equivalentTo", source="NCIT:C5721", source="DOID:5637"} is_a: EFO:1000073 {source="DOID:5637", source="MONDO:Redundant", source="NCIT:C5721"} ! Adenosquamous Carcinoma is_a: MONDO:0018521 ! squamous cell carcinoma of pancreas property_value: exactMatch DOID:5637 property_value: exactMatch DOID:5637 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335299 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335299 property_value: exactMatch NCIT:C5721 property_value: exactMatch NCIT:C5721 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: excluded_subClassOf MONDO:0005184 {source="DOID:5637"} property_value: http://purl.org/dc/terms/conformsTo adenosquamous:carcinoma.yaml [Term] id: EFO:0006733 name: PE/CA-PJ15 def: "human oral squamous carcinoma cell line established from tongue tissue of a 45 year old male patient with oral squamous cell carcinoma (Sigma catalog number 96121230)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000199 ! oral squamous cell carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/96121230?lang=en®ion=GB xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006734 name: PK-45H def: "human pancreatic carcinoma cell line" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002618 ! pancreatic carcinoma property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006735 name: PK-45P def: "human pancreatic carcinoma cell line" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002618 ! pancreatic carcinoma property_value: definition:citation http://www2.idac.tohoku.ac.jp/dep/ccr/TKGdate/TKGvo104/0493.html xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006736 name: PK-59 def: "human pancreatic carcinoma cell line" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002618 ! pancreatic carcinoma property_value: definition:citation http://www2.idac.tohoku.ac.jp/dep/ccr/TKGdate/TKGvo104/0492.html xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006737 name: PK-8 def: "human pancreatic carcinoma cell line" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002618 ! pancreatic carcinoma property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006738 name: plasmacytoma def: "Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of the soft tissues. Of the extramedullary plasmacytomas, 80% occur in the head and neck, usually in the upper respiratory tract. The median age at diagnosis is 50 years and the male to female ratio is 3:1. Long-term survival is possible following local radiotherapy, particularly for soft tissue presentations." [Orphanet:86855] comment: alternative definition: A type of cancer that begins in plasma cells (white blood cells that produce antibodies). A plasmacytoma may turn into multiple myeloma. {source="EFO:0006738"} subset: ordo_disease {source="Orphanet:86855"} synonym: "anaplastic plasmacytoma" RELATED [GARD:0007404] synonym: "anaplastic skeletal plasmacytoma (type)" RELATED [GARD:0007404] synonym: "anaplastic solitary extramedullary plasmacytoma of the cecum (type)" RELATED [GARD:0007404] synonym: "extramedullary anaplastic plasmacytoma (type)" RELATED [GARD:0007404] synonym: "myeloma - solitary" RELATED [DOID:3721] synonym: "myeloma, solitary" RELATED [DOID:3721] synonym: "plasmacytoma" EXACT [] {comment="preferred label from MONDO"} synonym: "plasmacytoma" EXACT [NCIT:C9349] synonym: "plasmacytoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "solitary myeloma" RELATED [DOID:3721, MTHICD9_2006:238.6] synonym: "solitary myeloma" RELATED [DOID:3721] synonym: "solitary plasmacytoma" NARROW [DOID:3721, NCIT:C6932, Orphanet:86855] xref: DOID:3721 {source="MONDO:equivalentTo", source="EFO:0006738"} xref: EFO:0006738 {source="MONDO:equivalentTo"} xref: GARD:0007404 {source="MONDO:equivalentTo"} xref: ICD10:C90.2 {source="MONDO:superClassOf", source="Orphanet:86855", source="ORDO:86855/btnt"} xref: ICD10:C90.3 {source="DOID:3721", source="Orphanet:86855", source="ORDO:86855/btnt"} xref: ICD10:C90.30 {source="DOID:3721"} xref: ICD9:238.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:238.6 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9731/3 {source="NCIT:C9349"} xref: MedDRA:10035484 {source="Orphanet:86855", source="Orphanet:86855/e"} xref: MedDRA:10035484 {source="ORDO:86855/e", source="Orphanet:86855"} xref: MESH:D010954 {source="MONDO:equivalentTo", source="DOID:3721", source="Orphanet:86855", source="EFO:0006738", source="Orphanet:86855/e"} xref: MESH:D010954 {source="ORDO:86855/e", source="MONDO:equivalentTo", source="DOID:3721", source="Orphanet:86855", source="EFO:0006738"} xref: MONDO:0005615 xref: NCIT:C9349 {source="MONDO:equivalentTo", source="DOID:3721", source="EFO:0006738"} xref: Orphanet:86855 {source="MONDO:equivalentTo"} xref: SCTID:415112005 {source="MONDO:equivalentTo", source="DOID:3721", source="EFO:0006738"} xref: UMLS:C0032131 {source="MONDO:equivalentTo", source="NCIT:C9349", source="DOID:3721", source="Orphanet:86855", source="EFO:0006738", source="Orphanet:86855/e"} xref: UMLS:C0032131 {source="ORDO:86855/e", source="MONDO:equivalentTo", source="NCIT:C9349", source="DOID:3721", source="Orphanet:86855", source="EFO:0006738"} is_a: EFO:0000200 {source="DOID:3721", source="EFO:0006738", source="MESH:D010954", source="NCIT:C9349", source="Orphanet:86855"} ! plasma cell neoplasm property_value: closeMatch http://identifiers.org/meddra/10035484 property_value: closeMatch http://identifiers.org/snomedct/10639003 property_value: closeMatch http://identifiers.org/snomedct/109987008 property_value: closeMatch http://identifiers.org/snomedct/154644004 property_value: closeMatch http://identifiers.org/snomedct/188719003 property_value: closeMatch http://identifiers.org/snomedct/188720009 property_value: closeMatch http://identifiers.org/snomedct/189507001 property_value: closeMatch http://identifiers.org/snomedct/190016004 property_value: closeMatch http://identifiers.org/snomedct/190017008 property_value: closeMatch http://identifiers.org/snomedct/190019006 property_value: closeMatch http://identifiers.org/snomedct/269652000 property_value: closeMatch http://identifiers.org/snomedct/274907000 property_value: closeMatch http://identifiers.org/snomedct/302852008 property_value: closeMatch http://identifiers.org/snomedct/308122007 property_value: closeMatch NCIT:C6932 property_value: exactMatch DOID:3721 property_value: exactMatch DOID:3721 property_value: exactMatch http://identifiers.org/meddra/10035484 property_value: exactMatch http://identifiers.org/mesh/D010954 property_value: exactMatch http://identifiers.org/mesh/D010954 property_value: exactMatch http://identifiers.org/snomedct/415112005 property_value: exactMatch http://identifiers.org/snomedct/415112005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032131 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032131 property_value: exactMatch NCIT:C9349 property_value: exactMatch NCIT:C9349 property_value: exactMatch Orphanet:86855 [Term] id: EFO:0006739 name: PSN1 def: "human pancreatic adenocarcinoma cell line (Sigma catalog number 94060601)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002618 ! pancreatic carcinoma property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/94060601?lang=en®ion=GB xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006740 name: pulmonary mucoepidermoid carcinoma def: "A lung carcinoma characterized by the presence of malignant non-keratinizing squamoid cells, mucin-producing cells and intermediate type cells." [NCIT:C45544] synonym: "lung mucoepidermoid cancer" EXACT [NCIT:C45544] synonym: "lung mucoepidermoid carcinoma" EXACT [MONDO:patterns/location, NCIT:C45544] synonym: "mucoepidermoid carcinoma of the lung" RELATED [ONCOTREE:LUMEC] synonym: "pulmonary mucoepidermoid carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "pulmonary mucoepidermoid carcinoma" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0050932 {source="EFO:0006740", source="MONDO:equivalentTo"} xref: EFO:0006740 {source="MONDO:equivalentTo"} xref: MONDO:0005616 xref: NCIT:C45544 {source="EFO:0006740", source="MONDO:equivalentTo"} xref: ONCOTREE:LUMEC {source="MONDO:equivalentTo"} xref: UMLS:C1708778 {source="EFO:0006740", source="MONDO:equivalentTo", source="NCIT:C45544"} is_a: MONDO:0003036 {source="DOID:0050932", source="MONDO:Redundant", source="NCIT:C45544"} ! mucoepidermoid carcinoma is_a: MONDO:0027772 ! lung colloid adenocarcinoma property_value: exactMatch DOID:0050932 property_value: exactMatch DOID:0050932 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1708778 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1708778 property_value: exactMatch NCIT:C45544 property_value: exactMatch NCIT:C45544 property_value: http://purl.org/dc/terms/conformsTo mucoepidermoid:carcinoma.yaml [Term] id: EFO:0006741 name: QGP-1 def: "human pancreatic carcinoma cell line of islet cell origin" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002618 ! pancreatic carcinoma property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006742 name: RC-K8 def: "human B-cell lymphoma cell line established from the peritoneal effusion of a patient with lymphoma, described at the time as true histiocytic lymphoma, in 1984 (DSMZ catalog number ACC 561)" [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000096 ! neoplasm of mature B-cells property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-561.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006743 name: RERF-GC-1B def: "human stomach carcinoma cell line from a 41 year old Japanese male" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000178 ! gastric carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006744 name: RERF-LC-OK def: "human lung adenocarcinoma cell line" [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006745 name: RKN def: "human ovarian leiomyosarcoma from a 45 year old Japanese female" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0006718 ! ovarian leiomyosarcoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006746 name: RMG-I def: "human ovarian mesonephroid adenocarcinoma cell line from a 34 year old Japanese female" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0006719 ! mesonephric adenocarcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://cellbank.nibio.go.jp/legacy/celldata/jcrb0172.htm xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006747 name: RMUG-S def: "human ovarian adenocarcinoma cell line from a 62 year old Japanese female" [] is_a: EFO:0002394 ! ovarian cancer cell lines is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0006460 ! ovarian adenocarcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006748 name: RTS3b def: "spontaneously immortalised human epidermal keratinocytes" [] is_a: EFO:0002888 ! Homo sapiens cell line property_value: definition:citation "PMID: 8221669" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006749 name: SCLC-21H def: "human small cell lung carcinoma cell line established from the pleural effusion of a 46-year-old Caucasian man with small cell lung carcinoma (DSMZ catalog number ACC 372)" [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000702 ! small cell lung carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-372.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006750 name: SCLC-22H def: "human small cell lung carcinoma cell line established from the pericardial effusion of a 46-year-old Caucasian man with small cell lung carcinoma (DSMZ catalog number ACC 373)" [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000702 ! small cell lung carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-373.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006751 name: SIG-M5 def: "human acute myeloid leukemia cell line established in 1995 from the bone marrow of a 63-year-old man with acute myeloid leukemia of monocytic origin (DSMZ ACC 468)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000222 ! acute myeloid leukemia relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-468.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006752 name: SK-CO-1 def: "human colorectal adenocarcinoma from a 65 year old Caucasian male (ATCC HTB-39)" [] xref: ATCC:HTB-39 is_a: BTO:0001616 ! colorectal cancer cell line is_a: BTO:0003250 ! colonic epithelium cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.lgcstandards-atcc.org/products/all/HTB-39.aspx?geo_country=gb xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006753 name: SKM-1 def: "human myelodysplasic cell line established from the peripheral blood of a 76-year-old Japanese man with acute monoblastic leukemia (AML M5) in 1989 following myelodysplastic syndromes (DSMZ catalog number ACC 547)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000222 ! acute myeloid leukemia relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-547.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006754 name: SNU-216 def: "human stomach carcinoma cell line from a 46 year old female" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000178 ! gastric carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006755 name: SNU-484 def: "human stomach carcinoma cell line from a 53 year old male" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000178 ! gastric carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006756 name: SNU-601 def: "human stomach carcinoma cell line from a 34 year old male" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000178 ! gastric carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006757 name: SNU-620 def: "human stomach carcinoma cell line from a 59 year old female" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000178 ! gastric carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006758 name: SNU-638 def: "human stomach carcinoma cell line from a 48 year old male" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000178 ! gastric carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006759 name: SNU-668 def: "human stomach carcinoma cell line from a 68 year old male" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000178 ! gastric carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006760 name: SNU-719 def: "human stomach carcinoma cell line from a 53 year old male" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000178 ! gastric carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006761 name: SNU-C1 def: "human colon adenocarcinoma cell line from a 71 year old Asian male (ATCC CRL-5972)" [] xref: ATCC:CRL-5972 is_a: BTO:0001616 ! colorectal cancer cell line is_a: BTO:0003250 ! colonic epithelium cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000365 ! colorectal adenocarcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.lgcstandards-atcc.org/products/all/CRL-5972.aspx?geo_country=gb xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006762 name: SUM229PE def: "human breast carcinoma cell line established from a female" [] synonym: "SUM 229" EXACT [] synonym: "SUM 229PE" EXACT [] synonym: "SUM-229" EXACT [] synonym: "SUM-229PE" EXACT [] synonym: "SUM229" EXACT [] xref: BTO:0005479 xref: PMID:10604729 xref: PMID:10718481 xref: PMID:25485619 xref: RRID:CVCL_5594 is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: IAO:0000117 "Laura Huerta" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0006763 name: SUP-B15 def: "human acute lymphoblastic leukemia cell line from a 8 year old Caucasian boy (ATCC CRL-1929)" [] xref: ATCC:CRL-1929 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line is_a: EFO:0005292 ! lymphoblastoid cell line relationship: has_characteristic EFO:0000220 ! acute lymphoblastic leukemia relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.lgcstandards-atcc.org/products/all/CRL-1929.aspx?geo_country=gb xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006764 name: TCC-PAN2 def: "human pancreatic carcinoma cell line from a 68 year old Japanese female" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002618 ! pancreatic carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006765 name: TK-10 def: "human carcinoma cell line from kidney of a 46 year old male" [] xref: NCIt:C117217 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001643 ! kidney derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002890 ! renal carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006766 name: TYK-nu def: "human ovarian carcinoma cell line" [] is_a: EFO:0002394 ! ovarian cancer cell lines is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0001075 ! ovarian carcinoma property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006767 name: TYK-nu.CP-r def: "human undifferentiated carcinoma cell line" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0006772 ! undifferentiated carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://cellbank.nibio.go.jp/legacy/celldata/jcrb0234.1.htm xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006768 name: U-698-M def: "human B-cell lymphoma cell line established from the involved tonsil of a 7-year-old boy with lymphoblastic lymphoma at diagnosis prior to therapy in 1972 (DSMZ catalog number ACC 4)" [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000096 ! neoplasm of mature B-cells relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-4.html xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006769 name: UCSD-242l def: "human skin melanoma cell line" [] is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006770 name: UM-UC-1 def: "human bladder transitional carcinoma cell line derived from a bladder cancer metastasis of a black male (Sigma catalog number 06080301)" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0006544 ! bladder transitional cell carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/06080301?lang=en®ion=GB xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006771 name: UM-UC-3 def: "human bladder transitional carcinoma cell line from the urinary bladder of a male (ATCC CRL-1749)" [] synonym: "UMUC3" EXACT [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0006544 ! bladder transitional cell carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.lgcstandards-atcc.org/products/all/CRL-1749.aspx?geo_country=gb xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006772 name: undifferentiated carcinoma def: "A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation." [NCIT:C3692] synonym: "anaplastic carcinoma" EXACT [NCIT:C3692] synonym: "carcinoma, undifferentiated" EXACT [NCIT:C3692] synonym: "carcinoma, undifferentiated, malignant" EXACT [NCIT:C3692] synonym: "undifferentiated carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "undifferentiated carcinoma" EXACT [NCIT:C3692] synonym: "undifferentiated carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:0006772 {source="MONDO:equivalentTo"} xref: ICDO:8020/3 {source="NCIT:C3692"} xref: ICDO:8021/3 {source="NCIT:C3692"} xref: MONDO:0005617 xref: NCIT:C3692 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:0006772"} xref: NCIT:C3692 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:0006772"} xref: UMLS:C0205698 {source="NCIT:C3692", source="MONDO:equivalentTo", source="EFO:0006772"} is_a: EFO:0000313 {source="EFO:0006772", source="NCIT:C3692"} ! carcinoma property_value: closeMatch http://identifiers.org/snomedct/38549000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205698 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205698 property_value: exactMatch NCIT:C3692 property_value: exactMatch NCIT:C3692 [Term] id: EFO:0006773 name: VMRC-LCD def: "human lung adenocarcinoma cell line from a male" [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://cellbank.nibio.go.jp/legacy/celldata/jcrb0814.htm xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006774 name: WM-266-4 def: "human skin melanoma cell line from a 58 year old female (ATCC CRL-1676)" [] xref: ATCC:CRL-1676 is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.lgcstandards-atcc.org/products/all/CRL-1676.aspx?geo_country=gb xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006775 name: WSU-DLCL2 def: "human B-cell lymphoma cell line derived from the pleural effusion of a 41-year-old Caucasian man with B-cell non-Hodgkin lymphoma (DSMZ catalog number ACC 575)" [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000096 ! neoplasm of mature B-cells relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-575 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006776 name: WSU-FSCCL def: "human B-cell lymphoma cell line established from the peripheral blood of a 37-year-old white man with low-grade follicular small cleaved cell lymphoma (DSMZ catalog number ACC 612)" [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000096 ! neoplasm of mature B-cells relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-612.html xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006777 name: WSU-NHL def: "human B-cell lymphoma cell line established from the pleural effusion of a 46-year-old woman with nodular histiocytic lymphoma (refractory, progressive) in 1986 (DSMZ ACC 58)" [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000096 ! neoplasm of mature B-cells relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.dsmz.de/catalogues/details/culture/ACC-58.html?tx_dsmzresources_pi5%5BreturnPid%5D=192 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006778 name: YAPC def: "human pancreatic carcinoma cell line from a 43 year old Japanese male" [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002618 ! pancreatic carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006779 name: YMB-1 def: "human breast carcinoma cell line from a 55 year old female" [] is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006780 name: YMB-1-E def: "human breast carcinoma cell line from a 55 year old female" [] is_a: EFO:0002885 ! breast cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000305 ! breast carcinoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation "PMID: 25485619" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0006781 name: coffee consumption measurement def: "the quantification of some coffee consumption or coffee consumption-related behaviour, usually self-reported via a questionnaire" [] is_a: EFO:0010089 ! bitter beverage consumption measurement relationship: IAO:0000136 CHEBI:27732 ! is_about caffeine relationship: IAO:0000136 EFO:0004330 ! is_about coffee consumption property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006782 name: cups of coffee per day measurement def: "the quantification of the number of cups of coffee that a subject consumes on average per day" [] is_a: EFO:0006781 ! coffee consumption measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006783 name: psychosocial stress measurement def: "the quantification of psychosocial stress factors such as financial strain, marital problems, work-related difficulties or health problems, usually assessed through self-reporting via standardised questionnaires." [] xref: ICD10:F43 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006784 name: body height at birth def: "The distance from the sole to the crown of the head of a newborn right after birth" [] synonym: "birth length" EXACT [] xref: SNOMEDCT:169886007 is_a: EFO:0004339 ! body height property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006785 name: infant body height def: "The distance from the sole to the crown of the head of an infant, which can be used as a proxy for skeletal growth in early life" [] synonym: "infant length" EXACT [] xref: SNOMEDCT:276351002 is_a: EFO:0004339 ! body height property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0006786 name: EKVX xref: NCIt:C117131 xref: PMID:22355448 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000228 ! adenocarcinoma property_value: IAO:0000117 "Laura Huerta" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0006787 name: HM7 def: "human colon adenocarcinoma cell line" [] xref: PMID:25485619 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000228 ! adenocarcinoma property_value: IAO:0000117 "Laura Huerta" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0006788 name: anxiety disorder def: "A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety." [NCIT:C2878] synonym: "anxiety" BROAD [DOID:2030, NCIT:C2878] synonym: "anxiety disorder" EXACT [NCIT:C2878] synonym: "anxiety disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "anxiety disorders" EXACT [] synonym: "anxiety neuroses" EXACT [] synonym: "anxiety neurosis" EXACT [] synonym: "anxiety state" EXACT [DOID:2030] synonym: "anxiety/mood disorders" EXACT [] synonym: "chronic stress" EXACT [] synonym: "mood and anxiety disorder" EXACT [] synonym: "mood and anxiety disorders" EXACT [] synonym: "neurotic anxiety states" EXACT [] xref: DOID:2030 {source="EFO:0006788", source="MONDO:equivalentTo"} xref: ICD10:F41 xref: ICD9:300.09 {source="DOID:2030"} xref: MedDRA:10057666 xref: MESH:D001008 {source="MONDO:equivalentTo", source="DOID:2030"} xref: MeSH:D001008 xref: MONDO:0005618 xref: NCIT:C2878 {source="EFO:0006788", source="MONDO:equivalentTo", source="DOID:2030"} xref: NCIt:C2878 xref: SCTID:197480006 {source="EFO:0006788", source="MONDO:equivalentTo", source="DOID:2030"} xref: SNOMEDCT:197480006 xref: UMLS:C0003469 xref: Wikipedia:Anxiety_disorder is_a: EFO:0000677 {source="EFO:0006788"} ! mental or behavioural disorder property_value: exactMatch DOID:2030 property_value: exactMatch http://identifiers.org/mesh/D001008 property_value: exactMatch http://identifiers.org/snomedct/197480006 property_value: exactMatch NCIT:C2878 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:0006789 name: typhoid fever alt_id: MONDO:0020486 def: "A bacterial infectious disorder contracted by consumption of food or drink contaminated with Salmonella typhi. This disorder is common in developing countries and can be treated with antibiotics." [NCIT:P378] def: "A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia." [] subset: ordo_disease {source="Orphanet:99745"} synonym: "enteric fever" EXACT [] synonym: "typhoid" EXACT [DOID:13258] synonym: "typhoid fever" EXACT [Orphanet:99745] synonym: "typhoid fever" EXACT [] {comment="preferred label from MONDO"} synonym: "typhoid infection" EXACT [] synonym: "typhoidal salmonellosis" EXACT [Orphanet:99745] xref: DOID:13258 {source="EFO:0006789", source="MONDO:equivalentTo"} xref: ICD9:002.0 {source="EFO:0006789", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13258"} xref: MedDRA:10045275 xref: MESH:D014435 {source="EFO:0006789", source="MONDO:equivalentTo", source="DOID:13258"} xref: MeSH:D014435 xref: MONDO:0005619 xref: NCIT:C35089 {source="EFO:0006789", source="MONDO:equivalentTo", source="DOID:13258"} xref: NCIt:C35089 xref: Orphanet:99745 {source="MONDO:equivalentTo"} xref: SCTID:4834000 {source="EFO:0006789", source="MONDO:equivalentTo", source="DOID:13258"} xref: SNOMEDCT:4834000 xref: UMLS:C0041466 {source="NCIT:C35089", source="Orphanet:99745", source="MONDO:equivalentTo", source="DOID:13258"} is_a: MONDO:0000827 {source="Orphanet:99745"} ! salmonellosis disjoint_from: EFO:0009117 ! typhus relationship: disease_has_feature EFO:1000697 {source="MONDO:Wikidata"} ! exanthem relationship: disease_has_feature EFO:1000987 {source="MONDO:Wikidata"} ! intestinal perforation relationship: disease_has_feature MONDO:0002203 {source="MONDO:Wikidata"} ! constipation disorder property_value: exactMatch DOID:13258 property_value: exactMatch http://identifiers.org/mesh/D014435 property_value: exactMatch http://identifiers.org/snomedct/4834000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041466 property_value: exactMatch NCIT:C35089 property_value: exactMatch Orphanet:99745 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0006790 name: cerebral amyloid angiopathy def: "A disorder characterized by the deposition of amyloid in the wall of the vessels in the brain." [] def: "Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia." [Orphanet:85458] subset: ordo_disease {source="Orphanet:85458"} synonym: "CAA" EXACT [] synonym: "CAA, familial" RELATED [GARD:0010266] synonym: "cerebral amyloid angiopathy" EXACT [] {comment="preferred label from MONDO"} synonym: "cerebral amyloid angiopathy, familial" RELATED [GARD:0010266] synonym: "cerebral amyloid angiopathy, genetic" RELATED [GARD:0010266] synonym: "dutch hereditary cerebral amyloid angiopathy" EXACT [DOID:9246] synonym: "HCHWA" EXACT ABBREVIATION [Orphanet:85458] synonym: "hereditary cerebral haemorrhage with amyloidosis - Dutch type" EXACT OMO:0003005 [] synonym: "hereditary cerebral hemorrhage with amyloidosis - Dutch type" EXACT [DOID:9246] xref: DOID:9246 {source="MONDO:equivalentTo", source="EFO:0006790"} xref: ICD10CM:I68.0 {source="MONDO:equivalentTo"} xref: ICD10EXP:E85.4+ {source="Orphanet:85458", source="Orphanet:85458/attributed", source="Orphanet:85458/ntbt"} xref: ICD10EXP:I68.0* {source="Orphanet:85458", source="Orphanet:85458/attributed", source="Orphanet:85458/ntbt"} xref: ICD9:277.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10068044 xref: MESH:D016657 {source="MONDO:equivalentTo", source="EFO:0006790"} xref: MeSH:D016657 xref: MONDO:0005620 xref: NCIT:C84625 {source="MONDO:equivalentTo", source="EFO:0006790"} xref: NCIt:C84625 xref: Orphanet:85458 {source="MONDO:equivalentTo", source="DOID:9246"} xref: SCTID:230724001 {source="MONDO:equivalentTo", source="EFO:0006790"} xref: SNOMEDCT:230724001 is_a: EFO:0003763 {source="EFO:0006790", source="ICD10CM:I68.0/inferred", source="MESH:D016657/inferred", source="NCIT:C84625", source="Orphanet:85458/inferred"} ! cerebrovascular disorder is_a: MONDO:0015547 ! hereditary dementia is_a: MONDO:0018634 {source="Orphanet:85458"} ! hereditary amyloidosis is_a: MONDO:0020144 {source="Orphanet:85458"} ! cerebrovascular dementia property_value: exactMatch DOID:9246 property_value: exactMatch http://identifiers.org/mesh/D016657 property_value: exactMatch http://identifiers.org/snomedct/230724001 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/I68.0 property_value: exactMatch NCIT:C84625 property_value: exactMatch Orphanet:85458 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0006791 name: vascular brain injury def: "Damage to the blood vessels of the brain" [EFO:0006791] def: "damage to the blood vessels of the brain" [] synonym: "Brain injury, Vascular" RELATED [MESH:D020214] synonym: "Brain Vascular injury" RELATED [MESH:D020214] synonym: "Brain Vascular trauma" RELATED [MESH:D020214] synonym: "injury, Brain Vascular" RELATED [MESH:D020214] synonym: "injury, Vascular Brain" RELATED [MESH:D020214] synonym: "injury, Vascular, Brain" RELATED [MESH:D020214] synonym: "trauma, Brain Vascular" RELATED [MESH:D020214] synonym: "trauma, cerebrovascular" RELATED [MESH:D020214] synonym: "Vascular Brain Injuries" RELATED [MESH:D020214] synonym: "Vascular Brain injury" RELATED [MESH:D020214] synonym: "vascular brain injury" EXACT [] {comment="preferred label from MONDO"} synonym: "Vascular injury, Brain" RELATED [MESH:D020214] synonym: "Vascular trauma, Brain" RELATED [MESH:D020214] synonym: "Vascular Traumas, Brain" RELATED [MESH:D020214] xref: MESH:D020214 {source="MONDO:equivalentTo"} xref: MONDO:0005621 is_a: EFO:0003763 {source="MESH:D020214"} ! cerebrovascular disorder is_a: MONDO:0043510 {source="https://orcid.org/0000-0001-5208-3432"} ! brain injury property_value: exactMatch http://identifiers.org/mesh/D020214 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006792 name: Lewy body dementia def: "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." [NCIT:P378] synonym: "cortical Lewy body disease" EXACT [Orphanet:1648] synonym: "dementia with Lewy bodies" EXACT [DOID:12217, ICD9CM:331.82, ISBN-13:978-1-259-64403-0] synonym: "dementia, Lewy body" RELATED [MONDO:Lexical, OMIM:127750] synonym: "diffuse Lewy body disease" RELATED [OMIM:127750, Orphanet:1648] synonym: "diffuse Lewy body disease with gaze palsy" RELATED [OMIM:127750] synonym: "DLB" EXACT ABBREVIATION [MONDO:Lexical, OMIM:127750, Orphanet:1648] synonym: "Lewy body dementia" EXACT [OMIM:127750, Orphanet:1648] synonym: "Lewy body dementia" EXACT [] {comment="preferred label from MONDO"} synonym: "lewy body dementia, susceptibility to" EXACT [OMIM:127750, OMIM:genemap2] synonym: "Lewy body disease" EXACT [DOID:12217] synonym: "Lewy body variant of Alzheimer disease" RELATED [OMIM:127750] synonym: "Senile dementia of the Lewy body type" EXACT [DOID:12217] xref: DOID:12217 {source="MONDO:equivalentTo"} xref: ICD10CM:G31.83 {source="DOID:12217", source="MONDO:equivalentTo"} xref: ICD9:331.82 {source="DOID:12217"} xref: MeSH:D020961 xref: MONDO:0007488 xref: NCIT:C84826 {source="DOID:12217", source="MONDO:equivalentTo"} xref: NCIt:C84826 xref: OMIM:127750 {source="DOID:12217", source="MONDO:equivalentTo"} xref: Orphanet:1648 {source="OMIM:127750", source="MONDO:equivalentObsolete"} xref: SCTID:312991009 {source="DOID:12217", source="MONDO:equivalentTo"} xref: UMLS:C0752347 {source="OMIM:127750", source="DOID:12217", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C84826"} is_a: DOID:0050890 {source="DOID:12217"} ! synucleinopathy is_a: MONDO:0001627 {source="DOID:12217", source="MONDO:Redundant", source="NCIT:C84826"} ! dementia relationship: disease_has_feature MONDO:0001627 ! dementia property_value: exactMatch DOID:12217 property_value: exactMatch http://identifiers.org/snomedct/312991009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0752347 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G31.83 property_value: exactMatch https://omim.org/entry/127750 property_value: exactMatch NCIT:C84826 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: EFO:0006793 name: left inferior lateral ventricle volume measurement def: "quantification of the volume of the left inferior lateral ventricle, usuallly through an MRI scan" [] is_a: EFO:0006514 ! Alzheimer's disease biomarker measurement is_a: EFO:0008487 ! lateral ventricle volume measurement relationship: IAO:0000136 EFO:0001715 ! is_about volume relationship: IAO:0000136 MONDO:0004975 ! is_about Alzheimer disease relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006794 name: cerebrospinal fluid biomarker measurement def: "A cerebrospinal fluid biomarker measurement is a quantification in cerebrospinal fluid of some molecule e.g. protein or metabolite that acts as a biomarker for some disease, eg Alzheimer's disease" [] is_a: BFO:0000040 ! material entity is_a: EFO:0001444 ! measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 UBERON:0001359 {all_some="true"} ! is_about cerebrospinal fluid property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0006795 name: serum VEGFR2 concentration measurement def: "quantification in blood of the transmembrane receptor tyrosine kinase VEGFR2, expressed by endothelial cells. Tyrosine-protein kinase that acts as a cell-surface receptor for VEGFA, VEGFC and VEGFD. Plays an essential role in the regulation of angiogenesis, vascular development, vascular permeability, and embryonic hematopoiesis. Promotes proliferation, survival, migration and differentiation of endothelial cells. Promotes reorganization of the actin cytoskeleton. Isoforms lacking a transmembrane domain, such as isoform 2 and isoform 3, may function as decoy receptors for VEGFA, VEGFC and/or VEGFD. Isoform 2 plays an important role as negative regulator of VEGFA- and VEGFC-mediated lymphangiogenesis by limiting the amount of free VEGFA and/or VEGFC and preventing their binding to FLT4. Modulates FLT1 and FLT4 signaling by forming heterodimers. Binding of vascular growth factors to isoform 1 leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate and the activation of protein kinase C. Mediates activation of MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Mediates phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, reorganization of the actin cytoskeleton and activation of PTK2/FAK1. Required for VEGFA-mediated induction of NOS2 and NOS3, leading to the production of the signaling molecule nitric oxide (NO) by endothelial cells. Phosphorylates PLCG1. Promotes phosphorylation of FYN, NCK1, NOS3, PIK3R1, PTK2/FAK1 and SRC (Uniprot). Variations in this gene are associated with Hemangioma, capillary infantile (OMIM label)." [] is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 MONDO:0011191 ! is_about capillary infantile hemangioma property_value: definition:citation http://www.uniprot.org/uniprot/P35968 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006796 name: very long-chain saturated fatty acid measurement def: "The determination of the amount of very long-chain saturated fatty acids present in a sample. VLSFAs are fatty acids with 20 or more carbons." [] is_a: EFO:0005110 ! fatty acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006797 name: neurofibrillary tangles measurement def: "quantification of the presence and amount of neurofibrillary tangles, pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau" [] is_a: EFO:0004464 ! brain measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006798 name: neuritic plaque measurement def: "quantification of neuritic (senile) plaques in the brain, Senile plaques (also known as neuritic plaques, senile druse and braindruse) are extracellular deposits of amyloid beta in the grey matter of the brain.[1][2] Degenerative neural structures and an abundance of microglia and astrocytes can be associated with senile plaque deposits. These deposits can also be a byproduct of senescence (ageing). However, large numbers of senile plaques and neurofibrillary tangles are characteristic features of Alzheimer's disease. Abnormal neurites in senile plaques are composed primarily of paired helical filaments, a component of neurofibrillary tangles.[3] The plaques are variable in shape and size, but are on average 50 µm in size.[4] In Alzheimer's disease they are primarily composed of amyloid beta peptides." [] synonym: "senile plaque measurement" EXACT [] is_a: EFO:0006514 ! Alzheimer's disease biomarker measurement relationship: IAO:0000136 HP:0100256 ! is_about Senile plaques relationship: IAO:0000136 MONDO:0004975 ! is_about Alzheimer disease property_value: definition:citation https://en.wikipedia.org/wiki/Senile_plaques xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006799 name: Lewy body dementia measurement def: "quantification of the amount and location of Lewy bodies in patients with symptoms of Lewy body dementia" [] is_a: EFO:0006848 ! mental or behavioural disorder biomarker is_a: EFO:0007021 ! Lewy body measurement relationship: IAO:0000136 EFO:0006792 ! is_about Lewy body dementia relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: definition:citation https://en.wikipedia.org/wiki/Dementia_with_Lewy_bodies xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006800 name: vascular brain injury measurement def: "quantification of the location and the amount of injuries to the blood vessels of the brain" [] is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 EFO:0006791 ! is_about vascular brain injury property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006801 name: Alzheimer's disease neuropathologic change def: "degenerative change that occurs in individuals with Alzheimer's disease, such as amyloid plaques, cerebral amyloid angiopathy, neurofibrillary tangles, neuronal loss or synaptic loss" [] is_a: EFO:0003765 ! sign or symptom is_a: EFO:0009386 ! central nervous system disease relationship: EFO:0000784 UBERON:0000955 ! has_disease_location brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006802 name: response to red blood cell transfusion def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a red blood cell transfusion" [] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006803 name: vasculitis def: "A group of disorders that destroy blood vessels by inflammation. Both arteries and veins are affected. " [] def: "Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. BehC'et disease) to relatively minor skin disease." [Orphanet:52759] comment: see infosheet: http://www.vasculitis.org.uk/content/downloads/understanding-vasculitis-factsheet-june-2014.pdf subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:52759"} synonym: "angiitis" RELATED [DOID:865] synonym: "systemic vasculitis" NARROW [Orphanet:52759] synonym: "vasculitis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:865 {source="MONDO:equivalentTo", source="EFO:0006803"} xref: ICD10:M31 xref: MedDRA:10036023 {source="Orphanet:52759/e", source="Orphanet:52759"} xref: MedDRA:10047115 {source="Orphanet:52759/e", source="Orphanet:52759"} xref: MESH:D014657 {source="Orphanet:52759/e", source="DOID:865", source="MONDO:equivalentTo", source="EFO:0006803", source="Orphanet:52759"} xref: MeSH:D014657 xref: MONDO:0018882 xref: NCIT:C26912 {source="DOID:865", source="MONDO:equivalentTo", source="EFO:0006803", source="MONDO:exact-label-match"} xref: NCIt:C26912 xref: OMIM:615688 xref: Orphanet:280369 {source="MONDO:mondoIsBroaderThanSource"} xref: Orphanet:52759 {source="MONDO:equivalentTo"} xref: SCTID:31996006 {source="DOID:865", source="MONDO:equivalentTo", source="EFO:0006803"} xref: SNOMEDCT:31996006 xref: UMLS:C0042384 {source="Orphanet:52759/e", source="DOID:865", source="MONDO:equivalentTo", source="Orphanet:52759", source="NCIT:C26912"} xref: Wikipedia:Vasculitis {source="EFO:0006803"} is_a: EFO:0004264 {source="Orphanet:52759"} ! vascular disease is_a: EFO:0009903 ! inflammatory disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0019048"} ! rare relationship: RO:0002200 MP:0001845 ! has phenotype inflammation property_value: closeMatch http://identifiers.org/meddra/10036023 property_value: closeMatch http://identifiers.org/meddra/10047115 property_value: exactMatch DOID:865 property_value: exactMatch http://identifiers.org/mesh/D014657 property_value: exactMatch http://identifiers.org/snomedct/31996006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042384 property_value: exactMatch NCIT:C26912 property_value: exactMatch Orphanet:52759 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: narrowMatch Orphanet:280369 [Term] id: EFO:0006804 name: alloimmunization def: "An immune response to foreign (donor) antigens." [] synonym: "alloimmunisation" EXACT [] xref: MedDRA:10054308 xref: NCIt:C6527 is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0006805 name: word list delayed recall measurement def: "Word list delayed recall is a verabl declarative memory test using visually or verbally presented word lists, with or without semantic relatedness between words, with articipants being asked to remember as many words as possible after a specified delay interval, The test is used to quanitfy memory performance." [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:0004874 ! is_about memory performance property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006806 name: paragraph delayed recall measurement def: "Paragraph delayed recall is a verabl declarative memory test using one or two verbally presented stories, with articipants being asked to remember as many paragraph elements as possible after a specified delay interval, The test is used to quanitfy memory performance." [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:0004874 ! is_about memory performance property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006807 name: linoleic acid measurement def: "The determination of the amount of linoleic acid present in a sample." [] is_a: EFO:0005680 ! omega-6 polyunsaturated fatty acid measurement relationship: IAO:0000136 CHEBI:17351 ! is_about linoleic acid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006808 name: arachidonic acid measurement def: "The determination of the amount of arachidonic acid present in a sample." [] xref: NCIt:C102259 xref: SNOMEDCT:430749000 is_a: EFO:0005680 ! omega-6 polyunsaturated fatty acid measurement relationship: IAO:0000136 CHEBI:15843 ! is_about arachidonic acid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006809 name: docosapentaenoic acid measurement def: "The determination of the amount of docosapentaenoic acid present in a sample." [] is_a: EFO:0005110 ! fatty acid measurement relationship: IAO:0000136 CHEBI:61204 ! is_about docosapentaenoic acid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006810 name: oleic acid measurement def: "The determination of the amount of oleic acid present in a sample." [] is_a: EFO:0005110 ! fatty acid measurement relationship: IAO:0000136 CHEBI:16196 ! is_about oleic acid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006811 name: linolenic acid measurement def: "The determination of the amount of linolenic acid present in a sample." [] is_a: EFO:0005110 ! fatty acid measurement relationship: IAO:0000136 CHEBI:25048 ! is_about linolenic acid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006812 name: autoimmune thyroid disease def: "a disease in which the body interprets the thyroid glands and its hormone products T3, T4 and TSH as threats, therefore producing special antibodies that target the thyroid’s cells, thereby destroying it.\n\nIt presents with hypothyroidism or hyperthyroidism and the presence or absence of goiters." [] def: "Inflammatory disease of the thyroid gland due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-cells and thyroid autoantibodies. The clinical signs can range from hypothyroidism to thyrotoxicosis depending on the type of autoimmune thyroiditis." [MESH:D013967] comment: Disease of the thyroid gland due to autoimmunity in which the patient's immune system attacks and damages their thyroid. It can be either hyper- or hypothyroidism. (http://www.medicinenet.com/script/main/art.asp?articlekey=24314 - accessed 20th July, 2015) {source="EFO:0006812"} synonym: "autoimmune thyroid disease" EXACT [] {comment="preferred label from MONDO"} synonym: "autoimmune thyroid gland inflammation" EXACT [] synonym: "Autoimmune Thyroiditides" EXACT [] synonym: "autoimmune thyroiditides" RELATED [MESH:D013967] synonym: "Autoimmune Thyroiditis" EXACT [] synonym: "autoimmune thyroiditis" EXACT [] synonym: "autoimmune thyroiditis" RELATED [MESH:D013967] synonym: "lymphocytic thyroiditides" RELATED [MESH:D013967] synonym: "lymphocytic thyroiditis" RELATED [MESH:D013967] synonym: "lymphomatous thyroiditides" RELATED [MESH:D013967] synonym: "lymphomatous thyroiditis" RELATED [MESH:D013967] synonym: "Thyroiditides, Autoimmune" EXACT [] synonym: "thyroiditides, autoimmune" RELATED [MESH:D013967] synonym: "thyroiditides, lymphocytic" RELATED [MESH:D013967] synonym: "thyroiditides, lymphomatous" RELATED [MESH:D013967] synonym: "thyroiditis, lymphocytic" RELATED [MESH:D013967] synonym: "thyroiditis, lymphomatous" RELATED [MESH:D013967] xref: DOID:7188 xref: MedDRA:10049046 xref: MESH:D013967 {source="MONDO:equivalentTo", source="EFO:0006812"} xref: MeSH:D013967 xref: MONDO:0005623 xref: SNOMEDCT:66944004 xref: Wikipedia:Autoimmune_thyroiditis {source="EFO:0006812"} is_a: EFO:0005140 ! autoimmune disease is_a: MONDO:0000569 ! autoimmune disorder of endocrine system is_a: MONDO:0004126 {source="MESH:D013967", source="MONDO:Redundant"} ! thyroiditis property_value: exactMatch http://identifiers.org/mesh/D013967 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0006813 name: atrophic thyroiditis def: "Atrophic thyroiditis is an organ-specific autoimmune disease characterized by thyroid autoantibodies, functional hypothyroidism, and absence of goiter." [doi:10.1007/978-1-60327-285-8_42] def: "Atrophic thyroiditis is an organ-specific autoimmune disease characterized by thyroid autoantibodies, functional hypothyroidism, and absence of goiter. Atrophic thyroiditis is a rare entity, which occurs between the ages of 40–60 years especially in elderly women. Immunogenetical analysis suggests that atrophic thyroiditis may be a distinct entity from Hashimoto’s disease." [] comment: It has been suggested that Hashimoto's thyroiditis, primary myxedema or AT, and Graves’ disease are different expressions of a basically similar autoimmune process, and that the clinical appearance reflects the spectrum of the immune response in the particular patient synonym: "atrophic thyroiditis" EXACT [] {comment="preferred label from MONDO"} xref: MedDRA:10077172 xref: MONDO:0005624 xref: SCTID:83664006 {source="MONDO:equivalentTo"} xref: UMLS:C0238183 {source="MONDO:equivalentTo"} is_a: EFO:0006812 {source="EFO:0006813"} ! autoimmune thyroid disease property_value: definition:citation "Diagnostic Criteria in Autoimmune Diseases 2008, pp 221-225\nISBN 978-1-60327-285-8" xsd:string property_value: exactMatch http://identifiers.org/snomedct/83664006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238183 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0006814 name: caryopsis def: "Simple, dry, indehiscent fruit with a single seed that is fused to the ovary wall, example: wheat." [] synonym: "grain" EXACT [] xref: BTO:0000208 xref: NCIt:C48497 xref: SNOMEDCT:264331002 is_a: EFO:0000998 ! plant reproductive system structure property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0006815 name: tiller def: "A tiller is a stem produced by grass plants, and refers to all shoots that grow after the initial parent shoot grows from a seed." [] synonym: "adventitious shoot" EXACT [] is_a: EFO:0000992 ! shoot is_a: PO:0009006 ! shoot system property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0006816 name: response to heparin def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a heparin stimulus." [] is_a: GO:0061476 ! response to anticoagulant property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006817 name: yang deficiency def: "Yang deficiency is a concept from traditional Chinese medicine. Yang-deficiency constitution is characterized by yang-qi deficiency and asthenia cold manifestation, and is mainly caused by genetic and environment factors. In terms of genetic factors, offsprings are affected by this defect through inheritance from yang deficiency constitution parents and as a result of poor healthcare during pregnancy. Environmental factors include adverse social conditions, unhealthy lifestyle, diseases, and medical misdiagnosis and inappropriate treatments." [] xref: MeSH:D016711 xref: PMID:25533513 xref: SNOMEDCT:370534002 is_a: EFO:0003765 ! sign or symptom property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006818 name: stricture def: "abnormal narrowing in a blood vessel or other tubular organ or structure" [] synonym: "stenosis" EXACT [] xref: NCIt:C50754 xref: SNOMEDCT:27551008 xref: Wikipedia:stenosis is_a: EFO:0003765 ! sign or symptom property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006819 name: mild disease course def: "progression of a disease with symptoms at the milder end of the spectrum for that condition" [] synonym: "MDC" EXACT [] is_a: OGMS:0000063 ! disease course property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006820 name: complicated disease course def: "progression of a disease with severe or complex symptoms within the spectrum of that condition" [] synonym: "CDC" EXACT [] is_a: OGMS:0000063 ! disease course property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006821 name: trans fatty acid measurement def: "The determination of the amount of trans fatty acids, a kind of unsaturated fatty acids, present in a sample." [] is_a: EFO:0005110 ! fatty acid measurement is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 EFO:0001645 ! is_about coronary artery disease property_value: definition:citation http://www.nejm.org/doi/full/10.1056/NEJMra054035 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006822 name: trans-16:1n-7 fatty acid measurement def: "The determination of the amount of trans fatty acids with 16 carbons and 1 double bond at the seventh N-terminal carbon present in a sample." [] is_a: EFO:0006821 ! trans fatty acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006823 name: total trans-18:1 fatty acid measurement def: "The determination of the amount of trans fatty acids with 18 carbons and 1 double bond present in a sample." [] is_a: EFO:0006821 ! trans fatty acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006824 name: cis/trans-18:2 fatty acid measurement def: "The determination of the amount of trans fatty acids with 18 carbons and 2 double bonds, with the first one in cis configuration and the 2nd one in trans configuration, present in a sample." [] is_a: EFO:0006821 ! trans fatty acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006825 name: trans/cis-18:2 fatty acid measurement def: "The determination of the amount of fatty acids with 18 carbons and 2 double bonds, with the first one in trans configuration and the 2nd one in cis configuration, present in a sample." [] is_a: EFO:0006821 ! trans fatty acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006826 name: trans/trans-18:2 fatty acid measurement def: "The determination of the amount of trans fatty acids with 18 carbons and 2 double bonds, both of which are in trans configuration, present in a sample." [] is_a: EFO:0006821 ! trans fatty acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006827 name: renin–angiotensin–aldosterone system measurement def: "quantification of some part of the renin-angiotensin-aldosterone system (RAAS), a central pathway in cardiovascular and renal physiology, critical for regulation of blood pressure and fluid balance and influencing cardiovascular remodeling" [] synonym: "RAAS measurement" EXACT [] is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 EFO:0000537 ! is_about hypertension property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006828 name: plasma renin activity measurement def: "Quantification of the activity of the enzyme renin in the blood. Renin activates the renin-angiotensin system by cleaving angiotensinogen, produced by the liver, to yield angiotensin I, which is further converted into angiotensin II by ACE, the angiotensin-converting enzyme primarily within the capillaries of the lungs." [] is_a: EFO:0006827 ! renin–angiotensin–aldosterone system measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006829 name: GFR change measurement def: "A quantification of the variation in an individual's glomerular filtration rate (GFR) over a period of time used in assessment of kidney function and diagnosis of kidney disease." [] is_a: EFO:0005208 ! glomerular filtration rate relationship: IAO:0000136 EFO:0003086 ! is_about kidney disease relationship: IAO:0000136 UBERON:0002113 ! is_about kidney property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006830 name: insulin metabolic clearance rate measurement def: "quantification of the rate at which insulin is cleared from some part of the metabolism, eg from the blood" [] is_a: EFO:0004467 ! insulin measurement relationship: IAO:0000136 CHEBI:5931 ! is_about insulin (human) relationship: IAO:0000136 MONDO:0005148 ! is_about type 2 diabetes mellitus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006831 name: acute insulin response measurement def: "quantification of insulin release in response to a controlled glucose intake, generally calculated as the increase in insulin concentrations at 2–8 min above the basal (fasting) insulin level after the bolus glucose injection at 0–1 min" [] is_a: EFO:0004467 ! insulin measurement relationship: IAO:0000136 CHEBI:5931 ! is_about insulin (human) relationship: IAO:0000136 MONDO:0005148 ! is_about type 2 diabetes mellitus property_value: definition:citation http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2128254/ xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006832 name: disposition index measurement def: "quantification of the disposition index, the product of measures of insulin sensitivity and firstphase insulin secretion, shown to predict conversion to diabetes" [] synonym: "insulin disposition index measurement" EXACT [] is_a: EFO:0004467 ! insulin measurement relationship: IAO:0000136 CHEBI:5931 ! is_about insulin (human) relationship: IAO:0000136 MONDO:0005148 ! is_about type 2 diabetes mellitus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006833 name: glucose effectiveness measurement def: "quantification of glucose effectiveness, the capacity of glucose to enhance its own cellular uptake and to suppress endogenous glucose production" [] is_a: EFO:0004468 ! glucose measurement relationship: IAO:0000136 CHEBI:17234 ! is_about glucose relationship: IAO:0000136 MONDO:0005148 ! is_about type 2 diabetes mellitus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006834 name: septic shock def: "Shock caused by infection; frequently caused by gram negative bacteria, although some cases have been caused by other bacteria, viruses, fungi, and protozoa; characterized by fever, chills, tachycardia, tachypnea, and hypotension. Shock is a state of acute circulatory failure characterized by persistent arterial hypotension despite adequate fluid resuscitation or by tissue hypoperfusion unexplained by other causes. " [] xref: ICD9:785.52 xref: MedDRA:10040070 xref: NCIt:C35018 xref: SNOMEDCT:76571007 is_a: HP:0001626 ! Abnormality of the cardiovascular system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006835 name: pyoderma gangrenosum def: "An idiopathic, rapidly evolving, and severely debilitating disease occurring most commonly in association with chronic ulcerative colitis. It is characterized by the presence of boggy, purplish ulcers with undermined borders, appearing mostly on the legs. The majority of cases are in people between 40 and 60 years old. Its etiology is unknown." [] xref: DOID:8553 xref: ICD10:L88 xref: ICD9:686.01 xref: MedDRA:10037635 xref: MedDRA:10084537 xref: MeSH:D017511 xref: SNOMEDCT:74578003 is_a: HP:0000951 ! Abnormality of the skin relationship: RO:0002314 UBERON:0000014 ! inheres in part of zone of skin property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006836 name: rapid kidney function decline def: "decline in kidney function defined as a decline in glomerular filtration rate in one year of > 3 ml/min per 1.73m2 " [] xref: PMID:25493955 is_a: EFO:0000651 ! phenotype property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006841 name: respiratory disease biomarker def: "The quantitation of a biomarker used in the measurement of lung fuction used in diagnosis or management of a clinical condition." [] is_a: EFO:0001444 ! measurement property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0006842 name: diabetes mellitus biomarker is_a: EFO:0001444 ! measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 EFO:0000400 ! is_about diabetes mellitus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: IAO:0000117 "The quantification of a biomarker used in the diagnosis or management of diabetes mellitus" xsd:string [Term] id: EFO:0006843 name: infectious disease biomarker def: "A quantification of some biomarker used in the diagnosis or management of infectious disease." [] is_a: EFO:0001444 ! measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 EFO:0005741 ! is_about infectious disease property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0006845 name: liver disease biomarker def: "The quantification of biomarkers used in the diagnosis or management of liver disease" [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:0001421 ! is_about liver disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0006846 name: autoimmune disease biomarker def: "Is a quantification of some substance or anatomical feature used as an indicator of biological state" [] is_a: EFO:0001444 ! measurement property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0006848 name: mental or behavioural disorder biomarker def: "Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." [] is_a: EFO:0001444 ! measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0006851 name: malignant def: "Refers to abnormal cell activity manifested by decreased control over growth and function, causing tumor growth or spread into surrounding tissue and adverse effects to the host" [] xref: NCIt:C14143 xref: SNOMEDCT:21594007 is_a: EFO:0010569 ! clinical modifier property_value: definition:citation "C14143" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0006852 name: metastatic def: "A term referring the clinical or pathological observation of a tumor extension from its original site of growth to another anatomic site." [] xref: NCIt:C14174 is_a: EFO:0010569 ! clinical modifier property_value: definition:citation "C14174" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:0006856 name: leucine-induced hypoglycemia def: "Rare cause of hypoglycemia and is described as a condition in which symptomatic hypoglycemia is provoked by high protein feedings. Hypoglycemia is also elicited by administration of oral or intravenous infusions of a single amino acid, leucine. [http://www.uniprot.org/diseases/DI-01896]" [] synonym: "hypoglycemia, leucine-induced" EXACT [] synonym: "LIH" EXACT [] xref: MeSH:C537150 xref: OMIM:240800 xref: SNOMEDCT:62151007 is_a: HP:0001943 ! Hypoglycemia property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0006857 name: cerebral malaria def: "A sequestration of Plasmodium falciparum in the brain, which can cause coma and/or seizures." [NCIT:C128373] def: "Individuals with cerebral malaria frequently exhibit neurological symptoms, including abnormal posturing, nystagmus, conjugate gaze palsy (failure of the eyes to turn together in the same direction), opisthotonus, seizures, or coma" [] synonym: "cerebral malaria" EXACT [] {comment="preferred label from MONDO"} synonym: "malarial encephalitis" EXACT [DOID:14069] xref: DOID:14069 {source="EFO:0006857", source="MONDO:equivalentTo"} xref: ICD9:084.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10063094 xref: MESH:D016779 {source="MONDO:equivalentTo", source="DOID:14069"} xref: MONDO:0005625 xref: NCIT:C128373 {source="MONDO:equivalentTo"} xref: SCTID:53622003 {source="EFO:0006857", source="MONDO:equivalentTo", source="DOID:14069"} xref: SNOMEDCT:53622003 xref: UMLS:C0024534 {source="NCIT:C128373", source="MONDO:equivalentTo", source="DOID:14069"} xref: Wikipedia:Malaria {source="EFO:0006857"} is_a: EFO:0001068 {source="DOID:14069", source="EFO:0006857", source="MESH:D016779", source="MONDO:Redundant", source="NCIT:C128373"} ! malaria is_a: EFO:0005774 ! brain disease is_a: EFO:1001456 ! central nervous system infection property_value: exactMatch DOID:14069 property_value: exactMatch http://identifiers.org/mesh/D016779 property_value: exactMatch http://identifiers.org/snomedct/53622003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024534 property_value: exactMatch NCIT:C128373 [Term] id: EFO:0006858 name: epithelial neoplasm def: "A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas." [NCIT:C3709] synonym: "epithelial neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "epithelial neoplasm" EXACT [NCIT:C3709] synonym: "epithelial neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "epithelioma" EXACT [NCIT:C3709] xref: EFO:0006858 {source="MONDO:equivalentTo"} xref: MedDRA:10015105 xref: MESH:D009375 {source="MONDO:equivalentTo"} xref: MONDO:0005626 xref: NCIT:C3709 {source="MONDO:equivalentTo", source="EFO:0006858"} xref: SCTID:118285006 {source="MONDO:equivalentTo", source="EFO:0006858"} is_a: EFO:0000616 {source="EFO:0006858", source="MESH:D009375/inferred", source="MONDO:Redundant", source="NCIT:C3709/inferred"} ! neoplasm relationship: EFO:0000784 CL:0000066 ! has_disease_location epithelial cell property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1368683 property_value: exactMatch http://identifiers.org/mesh/D009375 property_value: exactMatch http://identifiers.org/mesh/D009375 property_value: exactMatch http://identifiers.org/snomedct/118285006 property_value: exactMatch http://identifiers.org/snomedct/118285006 property_value: exactMatch NCIT:C3709 property_value: exactMatch NCIT:C3709 [Term] id: EFO:0006859 name: head and neck malignant neoplasia def: "A primary or metastatic malignant neoplasm affecting the head and neck. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." [NCIT:C4013] synonym: "cancer of craniocervical region" EXACT [MONDO:patterns/cancer] synonym: "cancer of head and neck" EXACT [NCIT:C4013] synonym: "cancer of the head and neck" EXACT [NCIT:C4013] synonym: "craniocervical region cancer" EXACT [MONDO:patterns/location] synonym: "head and neck cancer" EXACT [] {comment="preferred label from MONDO"} synonym: "head and neck cancer" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "head and neck cancer" EXACT [NCIT:C4013] synonym: "head and neck malignant neoplasia" EXACT [MONDO:patterns/cancer] synonym: "head and neck neoplasm" BROAD [DOID:11934, MTH:NOCODE] synonym: "head and neck neoplasm" EXACT [DOID:11934, MTH:NOCODE] synonym: "head and neck tumors" BROAD [DOID:11934] synonym: "head and neck tumours" BROAD OMO:0003005 [] synonym: "head and neck tumours" EXACT [DOID:11934] synonym: "head/neck neoplasm" BROAD [DOID:11934] synonym: "head/neck neoplasm" EXACT [CSP2005:2005-4325, DOID:11934] synonym: "malignant craniocervical region neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant head and neck neoplasm" EXACT [NCIT:C4013] synonym: "malignant head and neck tumor" EXACT [NCIT:C4013] synonym: "malignant head and neck tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of craniocervical region" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of head and neck" EXACT [NCIT:C4013] synonym: "malignant neoplasm of the head and neck" EXACT [NCIT:C4013] synonym: "malignant tumor of head and neck" EXACT [NCIT:C4013] synonym: "malignant tumor of the head and neck" EXACT [NCIT:C4013] synonym: "malignant tumour of head and neck" EXACT OMO:0003005 [] synonym: "malignant tumour of the head and neck" EXACT OMO:0003005 [] synonym: "tumour of head and neck" BROAD OMO:0003005 [] xref: DOID:11934 {source="MONDO:equivalentTo", source="EFO:0006859"} xref: EFO:0006859 {source="MONDO:equivalentTo"} xref: MedDRA:10067821 xref: MONDO:0005627 xref: NCIT:C4013 {source="MONDO:equivalentTo", source="EFO:0006859"} xref: UMLS:C0278996 {source="MONDO:equivalentTo", source="NCIT:C4013"} is_a: EFO:0005950 {source="EFO:0006859", source="MONDO:Redundant", source="NCIT:C4013"} ! head and neck neoplasia is_a: MONDO:0004992 {source="DOID:11934", source="DOID:11934/inferred", source="MONDO:Redundant"} ! cancer property_value: closeMatch http://identifiers.org/mesh/D006258 property_value: closeMatch http://identifiers.org/snomedct/255056009 property_value: exactMatch DOID:11934 property_value: exactMatch DOID:11934 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278996 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278996 property_value: exactMatch NCIT:C4013 property_value: exactMatch NCIT:C4013 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/cancer.yaml [Term] id: EFO:0006860 name: obsolete_major depressive disorder xref: SNOMEDCT:370143000 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.67" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use EFO_0003761 label : unipolar depression " xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0003761 [Term] id: EFO:0006861 name: male breast carcinoma def: "A malignant neoplasm involving the male breast." [https://orcid.org/0000-0002-6601-2165] def: "A malignant neoplasm involving the male breast." [MONDO:DesignPattern] synonym: "breast cancer in men" RELATED [GARD:0009312] synonym: "breast cancer, male" RELATED [GARD:0009312] synonym: "carcinoma of Male breast" EXACT [NCIT:C3862] synonym: "carcinoma of male breast" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of the Male breast" EXACT [NCIT:C3862] synonym: "Male breast cancer" EXACT [NCIT:C3862] synonym: "male breast cancer" EXACT [NCIT:C3862] synonym: "Male breast carcinoma" EXACT [NCIT:C3862] synonym: "male breast carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "male breast carcinoma" EXACT [MONDO:patterns/location] synonym: "male breast carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "malignant neoplasm of male breast" EXACT [DOID:1614] synonym: "neoplasm of male breast" EXACT [DOID:1614] xref: DOID:1614 {source="EFO:0006861", source="MONDO:equivalentTo"} xref: EFO:0006861 {source="MONDO:equivalentTo"} xref: GARD:0009312 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: ICD9:175.9 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:1614"} xref: ICD9:175.9 {source="MONDO:relatedTo", source="i2s", source="DOID:1614"} xref: MESH:D018567 {source="MONDO:equivalentTo", source="DOID:1614"} xref: MONDO:0005628 xref: NCIT:C3862 {source="EFO:0006861", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C3862 {source="EFO:0006861", source="MONDO:equivalentTo", source="exact-label-match"} xref: SCTID:372095001 {source="MONDO:equivalentTo"} xref: UMLS:C0238033 {source="MONDO:equivalentTo", source="NCIT:C3862"} xref: UMLS:C0242787 {source="MONDO:equivalentTo"} xref: UMLS:C0242788 {source="MONDO:equivalentTo", source="DOID:1614"} is_a: EFO:0000305 {source="EFO:0006861", source="MONDO:Redundant", source="NCIT:C3862"} ! breast carcinoma property_value: closeMatch http://identifiers.org/snomedct/126937006 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153559 property_value: exactMatch DOID:1614 property_value: exactMatch DOID:1614 property_value: exactMatch http://identifiers.org/mesh/D018567 property_value: exactMatch http://identifiers.org/mesh/D018567 property_value: exactMatch http://identifiers.org/snomedct/372095001 property_value: exactMatch http://identifiers.org/snomedct/372095001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238033 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238033 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242787 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242787 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242788 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242788 property_value: exactMatch NCIT:C3862 property_value: exactMatch NCIT:C3862 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:0006862 name: Meniere disease def: "A disease of the inner ear (labyrinth) that is characterized by fluctuating sensorineural hearing loss; tinnitus; episodic vertigo; and aural fullness. It is the most common form of endolymphatic hydrops." [MESH:D008575] def: "A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss." [] synonym: "Meniere disease" EXACT [DOID:9849, OMIM:156000] synonym: "Meniere disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Meniere's disease" EXACT [] synonym: "Meniere's disease" RELATED [DOID:9849] synonym: "Mnire's vertigo" EXACT [DOID:9849] synonym: "otogenic vertigo" EXACT [DOID:9849] xref: DOID:9849 {source="EFO:0006862", source="MONDO:equivalentTo"} xref: ICD9:386.0 {source="DOID:9849"} xref: ICD9:386.00 {source="DOID:9849", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D008575 {source="EFO:0006862", source="DOID:9849", source="MONDO:equivalentTo"} xref: MeSH:D008575 xref: MONDO:0007972 xref: NCIT:C185243 {source="MONDO:equivalentTo"} xref: OMIM:156000 {source="DOID:9849", source="MONDO:equivalentTo"} xref: Orphanet:45360 {source="MONDO:equivalentObsolete", source="OMIM:156000"} xref: SCTID:13445001 {source="DOID:9849", source="MONDO:equivalentTo"} xref: UMLS:C0025281 {source="OMIM:156000", source="DOID:9849", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0000524 ! head and neck disorder is_a: EFO:1000918 {source="DOID:9849", source="MESH:D008575"} ! endolymphatic hydrops is_a: MONDO:0018751 ! hereditary otorhinolaryngologic disease is_a: MONDO:0037940 ! inherited auditory system disease property_value: exactMatch DOID:9849 property_value: exactMatch http://identifiers.org/mesh/D008575 property_value: exactMatch http://identifiers.org/snomedct/13445001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025281 property_value: exactMatch https://omim.org/entry/156000 property_value: exactMatch NCIT:C185243 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0006863 name: obsolete_longissimus dorsi def: "the muscle lateral to the semispinalis. It is the longest subdivision of the sacrospinalis that extends forward into the transverse processes of the posterior cervical vertebrae." [] xref: FMA:77178 xref: Wikipedia:Longissimus property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.73" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "replaced with UBERON_0001401" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001401 [Term] id: EFO:0006864 name: breastfeeding duration def: "breastfeeding duration is a measurement of the mean number of months each mother breastfed each child, averaged across all live births and standardized to a Z-score" [] xref: PMID:25475840 is_a: EFO:0000719 ! temporal measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006865 name: urgency urinary incontinence def: "urgency urinary incontinence is a form of urinary incontinence whereby the involuntary leakage of urine is immediately preceeded by an acute and compelling urge to urinate" [] comment: Involuntary discharge of URINE that is associated with an abrupt and strong desire to void. It is usually related to the involuntary contractions of the detrusor muscle of the bladder (detrusor hyperreflexia or detrusor instability). synonym: "urinary incontinence, urge" EXACT [] xref: MedDRA:10046494 xref: MeSH:D053202 xref: PMID:25524241 xref: SNOMEDCT:87557004 is_a: HP:0000020 ! Urinary incontinence property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006866 name: electrodermal activity measurement def: "quantification of the change in the heat and electricity passed through the skin by nerves and sweat. Skin conduction increases in certain emotional states and during hot flashes that happen with menopause." [] synonym: "galvanic skin response measurement" EXACT [] xref: PMID:25387706 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006867 name: skin conductance level def: "The skin conductance level is a baseline measure that changes slowly with altered arousal state. SCL is measured as the median response during a 5-min relaxation period." [] xref: PMID:25387706 is_a: EFO:0006866 ! electrodermal activity measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006868 name: skin conductance response amplitude def: "quantification of the difference in microsiemens between peak and baseline of the change in skin conductance that occurs in response to a discrete stimulus" [] xref: PMID:25387706 is_a: EFO:0006866 ! electrodermal activity measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006869 name: skin conductance response frequency def: "quantification of the number of valid skin conductance change responses, used to gauge an individual's resistance to habituation" [] xref: PMID:25387706 is_a: EFO:0006866 ! electrodermal activity measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006870 name: alpha wave measurement def: "quantification of the wave-like oscillations in the alpha band (8-13 Hz) of electric potential between parts of the brain" [] xref: PMID:25387704 is_a: EFO:0004357 ! electroencephalogram measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006871 name: beta wave measurement def: "quantification of the wave-like oscillations in the beta band (13-30 Hz) of electric potential between parts of the brain" [] xref: PMID:25387704 is_a: EFO:0004357 ! electroencephalogram measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006872 name: delta wave measurement def: "quantification of the wave-like oscillations in the delta band (0.1-4 Hz) of electric potential between parts of the brain" [] xref: PMID:25387704 is_a: EFO:0004357 ! electroencephalogram measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006873 name: theta wave measurement def: "quantification of the wave-like oscillations in the theta band (4-8 Hz) of electric potential between parts of the brain" [] xref: PMID:25387704 is_a: EFO:0004357 ! electroencephalogram measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006874 name: antisaccade response measurement def: "Quantification of the error rate reflecting the proportion of trials in an antisaccade task that resulted in a prosaccade response. An antisaccade task invovles the suppression of the involuntary saccade towards a stimulus (prosaccade response) following a period of fixation on a motionless target." [] xref: PMID:25387707 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006875 name: acoustic startle blink response measurement def: "quantification of an individual's eye blink response to a startling acoustic stimulus, measured via electrodes placed on the orbicularis oculi muscle" [] xref: PMID:25387708 is_a: EFO:0004731 ! eye measurement relationship: IAO:0000136 UBERON:0000970 ! is_about eye property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006876 name: seasonality measurement def: "Quantification of the seasonal changes in mood and behaviour, usually evaluated through a questionnaire such as the \"Seasonal Pattern Assessment Questionnaire\" (SPAQ). The resulting score is used as an indictaor to determine the potential presence of seasonal affective disorder SAD." [] xref: PMID:25562672 is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006882 name: suicide behaviour measurement def: "quantification of some aspect of suicide behaviour, eg suicide behaviour severity, assessed via a self-reported questionnaire or semi-structured interview" [] xref: PMID:25917933 is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006883 name: alpha peak frequency measurement def: "quantification of the dominant frequency of the alpha band" [] xref: PMID:25387704 is_a: EFO:0006870 ! alpha wave measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006884 name: mouth mucous membrane leukoplakia def: "A clinical term that indicates the presence of a white patch on the mucous membrane in the mouth which cannot be characterized as any other disease. It may be a precancerous condition and in most cases histologic examination reveals keratosis." [] synonym: "leukoplakia of mouth mucous membrane" EXACT [] xref: NCIt:C7743 is_a: HP:0002745 ! Oral leukoplakia relationship: RO:0002314 UBERON:0003729 ! inheres in part of mouth mucosa property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0006885 name: leukoplakia of tongue def: "A clinical term that indicates the presence of a white patch on the surface of the tongue which cannot be characterized as any other disease. It may be a precancerous condition and in most cases histologic examination reveals keratosis." [] synonym: "tongue leukoplakia" EXACT [] xref: NCIt:C3886 is_a: HP:0002745 ! Oral leukoplakia relationship: RO:0002314 UBERON:0001723 ! inheres in part of tongue property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0006886 name: pancreaticobiliary malunion def: "An abnormality of the pancreatic and biliary ducts in which their junction occurs above the duodenal wall." [] xref: NCIt:C121970 is_a: HP:0001438 ! Abnormal abdomen morphology property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0006887 name: radiologic finding def: "Imaging results obtained through a radiology procedure." [] xref: NCIt:C35869 is_a: EFO:0003765 ! sign or symptom property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0006888 name: vascular malformation def: "A congenital abnormality of the arteries and veins, lymph vessels or veins and lymph vessels." [] def: "A non-neoplastic disorder that is the result of defects of vascular morphogenesis." [https://www.bsir.org/patients/vascular-malformations/] comment: The majority are present at birth. Some can be acquired. synonym: "malformation, vascular" RELATED [MESH:D054079] synonym: "malformations, vascular" RELATED [MESH:D054079] synonym: "vascular malformation" EXACT [] {comment="preferred label from MONDO"} synonym: "vascular malformation" EXACT [MESH:D054079] xref: MedDRA:10074979 xref: MESH:D054079 {source="MONDO:equivalentTo"} xref: MONDO:0024291 xref: NCIt:C112117 is_a: HP:0002597 ! Abnormality of the vasculature is_a: MONDO:0019063 {source="MONDO:Redundant", source="MONDO:cjm"} ! vascular anomaly is_a: MONDO:0024239 ! congenital anomaly of cardiovascular system relationship: RO:0002314 UBERON:0001637 ! inheres in part of artery property_value: exactMatch http://identifiers.org/mesh/D054079 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0006889 name: monoclonal B-cell lymphocytosis def: "A monoclonal expansion of B-lymphocytes with or without the characteristic immunophenotype of chronic lymphocytic leukemia." [] xref: MedDRA:10074668 xref: NCIt:C80310 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues relationship: RO:0002314 CL:0000945 ! inheres in part of lymphocyte of B lineage property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0006890 name: fibrosis def: "the formation of excess fibrous connective tissue in an organ or tissue in a reparative or reactive process. This can be a reactive, benign, or pathological state." [] xref: MedDRA:10016642 xref: NCIt:C3044 xref: Wikipedia:Fibrosis is_a: EFO:0000616 ! neoplasm property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0006891 name: breast adenosis def: "A non-neoplastic disorder characterized by epithelial and/or myoepithelial tissue growth in the breast lobules. It may be associated with apocrine changes or sclerosis." [] def: "A non-neoplastic disorder characterized by epithelial and/or myoepithelial tissue growth in the breast lobules. It may be associated with apocrine changes or sclerosis." [NCIT:C3484] synonym: "adenosis" BROAD [NCIT:C3484] synonym: "adenosis - breast" EXACT [DOID:5998] synonym: "adenosis of breast" EXACT [NCIT:C3484] synonym: "adenosis of the breast" EXACT [DOID:5998, NCIT:C3484] synonym: "breast adenosis" EXACT [] {comment="preferred label from MONDO"} synonym: "breast adenosis" EXACT [NCIT:C3484] synonym: "microglandular adenosis" RELATED [DOID:5998] xref: DOID:5998 {source="MONDO:equivalentTo"} xref: MESH:D005348 {source="MONDO:relatedTo", source="DOID:5998"} xref: MONDO:0003725 xref: NCIT:C3484 {source="MONDO:equivalentTo", source="DOID:5998"} xref: NCIt:C3484 xref: UMLS:C0085750 {source="NCIT:C3484", source="MONDO:equivalentTo", source="DOID:5998"} is_a: EFO:0009483 {source="DOID:5998", source="NCIT:C3484/inferred"} ! breast disease property_value: exactMatch DOID:5998 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085750 property_value: exactMatch NCIT:C3484 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0006892 name: cutaneous precancerous condition def: "A skin disease marked by scaly or thickened patches on the skin, and often caused by prolonged exposure to arsenic. The patches often occur on sunexposed areas of the skin and in older white men. These patches may become malignant (cancerous)." [] synonym: "cutaneous premalignant condition" EXACT [] synonym: "precancerous dermatosis" EXACT [] synonym: "precancerous skin lesion" EXACT [] xref: NCIt:C8957 is_a: HP:0000951 ! Abnormality of the skin relationship: RO:0002314 UBERON:0000014 ! inheres in part of zone of skin property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0006893 name: proliferative inflammatory atrophy def: "A lesion in the prostate gland characterized by glandular atrophy, chronic inflammation, and epithelial hyperplasia. It has been suggested that it is a precancerous lesion and it may lead to the development of prostatic intraepithelial neoplasia and prostatic carcinoma." [] xref: NCIt:C97114 is_a: EFO:1000096 ! Atrophy property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0006896 name: glucose homeostasis measurement def: "quantification of some aspect of glucose homeostasis" [] xref: PMID:25524916 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 GO:0042593 ! is_about glucose homeostasis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006897 name: airway responsiveness measurement def: "quantification of airway responsiveness, calculated as the concentration of methacholine at which a greater than 20% decresase in FEV1 is achieved during a bronchial challenge test" [] xref: PMID:25514360 is_a: EFO:0003892 ! pulmonary function measurement relationship: IAO:0000136 UBERON:0001004 ! is_about respiratory system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006898 name: airway wall thickness measurement def: "Quantification of the thickness of the walls of different parts of the respiratory tract, calculated from cross-sectional CT images. This measure can be used as an indicator of airway obstruction severity in COPD." [] xref: PMID:25517131 is_a: EFO:0003892 ! pulmonary function measurement relationship: IAO:0000136 UBERON:0001004 ! is_about respiratory system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006899 name: PCSK9 protein measurement def: "quantification of PCSK9 protein in the blood" [] xref: PMID:25089948 is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006900 name: endothelial growth factor measurement def: "quantification of some circulating endothelial growth factor in blood" [] xref: PMID:25552591 is_a: EFO:0004747 ! protein measurement is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease relationship: IAO:0000136 MONDO:0004992 ! is_about cancer property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006901 name: angiopoietin-2 measurement def: "quantification of circulating angiotensin-2 in blood" [] xref: PMID:25552591 is_a: EFO:0006900 ! endothelial growth factor measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 CHEBI:48432 ! is_about angiotensin II relationship: IAO:0000136 MONDO:0004992 ! is_about cancer property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006902 name: angiopoietin-2 receptor measurement def: "quantification of circulating angiopoietin-2 receptor in blood" [] synonym: "soluble receptor Tie-2 measurement" EXACT [] synonym: "sTie-2 measurement" EXACT [] xref: PMID:25552591 is_a: EFO:0006900 ! endothelial growth factor measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 MONDO:0004992 ! is_about cancer property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006903 name: hepatocyte growth factor measurement def: "quantification of circulating hepatocyte growth factor in blood" [] synonym: "HGF measurement" EXACT [] xref: PMID:25552591 is_a: EFO:0006900 ! endothelial growth factor measurement relationship: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease relationship: IAO:0000136 EFO:0003303 ! is_about hepatocyte growth factor relationship: IAO:0000136 MONDO:0004992 ! is_about cancer property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006904 name: response to efavirenz def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with efavirenz, a non-nucleoside reverse transcriptase inhibitor used in treatment of HIV/AIDS." [] is_a: GO:0061479 ! response to reverse transcriptase inhibitor property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0006905 name: response to abacavir def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with abacavir, a nucleoside reverse transcriptase inhibitor used in treatment of HIV/AIDS." [] is_a: GO:0061479 ! response to reverse transcriptase inhibitor property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0006906 name: virologic response measurement def: "quantification of the change in viral disease status in response to treatment" [] xref: PMID:25461247 is_a: EFO:0006843 ! infectious disease biomarker relationship: IAO:0000136 EFO:0000763 ! is_about viral disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006907 name: HPL1A xref: PMID:9354455 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0006908 name: HPL1C xref: PMID:9354455 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0006909 name: HPL1D xref: PMID:9354455 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0006910 name: HPL1E xref: PMID:9354455 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0006911 name: Chemotherapy-induced nausea and vomiting synonym: "Chemotherapy induced vomiting" EXACT [] synonym: "Chemotherapy sickness (disorder)" EXACT [] xref: SNOMEDCT:236084000 is_a: HP:0002017 ! Nausea and vomiting property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0006912 name: Radiation-induced nausea and vomiting synonym: "Radiation-induced nausea and vomiting (disorder)" EXACT [] xref: SNOMEDCT:91173007 is_a: HP:0002017 ! Nausea and vomiting property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0006913 name: prefrontal cortex cytoarchtiectural measurement def: "quantification of the cytoarchitecture, ie the cellular composition, of the prefrontal cortex of the brain" [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 UBERON:0000451 ! is_about prefrontal cortex property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006916 name: response to dalcetrapib def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with dalcetrapib, a cholesterylester transfer protein (CETP) inhibitor aimed at raising blood levels of HDL cholesterol" [] xref: PMID:25583994 is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006917 name: spontaneous preterm birth def: "any birth that occurs spontaneously prior to 37 weeks of gestation, eg due to fetal membrane rupture or spontaneous onset of uterine contractions" [] xref: ICD10:O42 xref: PMID:25599974 is_a: EFO:0003917 ! premature birth property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006918 name: female fertility def: "A fertility quality of inhering in a female by virtue of the bearer's disposition to initiate, sustain, or support reproduction." [] xref: PMID:25599974 is_a: EFO:0000651 ! phenotype property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006919 name: cardiovascular event measurement def: "quantification of some cardiovascular event such as nonfatal myocardial infarction or atherothrombotic stroke" [] is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease property_value: definition:citation PMID:25583994 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006920 name: BNP measurement def: "quantification of B-type natriuretic peptide in a sample, eg in blood" [] synonym: "B-type natriuretic peptide measurement" EXACT [] synonym: "brain natriuretic peptide measurement" EXACT [] is_a: EFO:0004747 ! protein measurement is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease property_value: definition:citation PMID:25581431 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006921 name: birth measurement def: "quantification of some aspect of birth, eg whether it preterm or full term" [] is_a: EFO:0001444 ! measurement property_value: definition:citation PMID:25599974 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006922 name: delivery measurement def: "quantification of some aspect of delivery, eg whether it occured preterm or at full term" [] is_a: EFO:0001444 ! measurement property_value: definition:citation PMID:25599974 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006923 name: fertility measurement def: "quantification of some aspect of fertility, eg number of children or number of births" [] is_a: EFO:0001444 ! measurement property_value: definition:citation PMID:25742292 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006924 name: household air pollution measurement def: "quantification of some aspect of air pollution in the home, eg from coal burning for cooking and heating, used as an environmental risk factor for lung cancer" [] is_a: EFO:0006841 ! respiratory disease biomarker is_a: EFO:0008360 ! environmental exposure measurement relationship: IAO:0000136 EFO:0000684 ! is_about respiratory system disease property_value: definition:citation PMID:25566987 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006925 name: lipoprotein A measurement def: "quantification of some lipoprotein A in a sample" [] synonym: "Lp(a) measurement" EXACT [] is_a: EFO:0004732 ! lipoprotein measurement relationship: IAO:0000136 EFO:0003836 ! is_about lipoprotein property_value: definition:citation PMID:25575512 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006926 name: acquired aplastic anemia def: "Acquired aplastic anemia is a rare, serious blood disorder, due to failure of the bone marrow to produce blood cells." [] synonym: "idiopathic aplastic anemia" EXACT [] xref: MedDRA:10083870 is_a: HP:0001915 ! Aplastic anemia property_value: definition:citation https://rarediseases.org/rare-diseases/acquired-aplastic-anemia/ xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0006927 name: severe aplastic anemia def: "Severe aplastic anemia (SAA) is a disease in which the bone marrow does not make enough blood cells for the body." [] synonym: "SAA" EXACT [] is_a: HP:0001915 ! Aplastic anemia property_value: definition:citation https://bethematch.org/for-patients-and-families/learning-about-your-disease/severe-aplastic-anemia/ xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0006928 name: motion sickness def: "sympton caused by motion, as sea sickness, train sickness, car sickness, air sickness, or space motion sickness. It may include nausea, vomiting and dizziness." [] synonym: "travel sickness" EXACT [] xref: MedDRA:10027990 xref: NCIt:C34824 is_a: EFO:0003765 ! sign or symptom relationship: RO:0002314 UBERON:0001690 ! inheres in part of ear property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006929 name: IgG index def: "the IgG index (or CSF index) is the cerebrospinal fluid (CSF) IgG to CSF albumin ration compared to the serum IgG to serum albumin ratio. It is an indicator of the relative amount IgG in CSF compared to serum" [] is_a: EFO:0004565 ! serum IgG measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006930 name: brain volume measurement def: "quantification of the volume of the brain or of a part of the brain" [] is_a: EFO:0004464 ! brain measurement is_a: EFO:0005052 ! nervous system measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 EFO:0001715 {all_some="true"} ! is_about volume property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006931 name: nucleus accumbens volume def: "quantification of the volume of the nucleus accumbens, a region of the basal forebrain rostral to the preoptic area of the hypothalamus and which together with the olfactory tubercle forms the ventral striatum" [] is_a: EFO:0006930 ! brain volume measurement relationship: IAO:0000136 EFO:0001715 ! is_about volume relationship: IAO:0000136 UBERON:0000955 ! is_about brain relationship: IAO:0000136 UBERON:0001882 ! is_about nucleus accumbens property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006932 name: putamen volume def: "quantification of the volume of the putamen, a round structure located at the base of the forebrain" [] is_a: EFO:0006930 ! brain volume measurement relationship: IAO:0000136 EFO:0001715 ! is_about volume relationship: IAO:0000136 UBERON:0000955 ! is_about brain relationship: IAO:0000136 UBERON:0001874 ! is_about putamen property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006933 name: pallidum volume def: "quantification of the volume of the pallidum or globus pallidus, a sub-cortical structure of the brain that is part of the telencephalon" [] is_a: EFO:0006930 ! brain volume measurement relationship: IAO:0000136 EFO:0001715 ! is_about volume relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006934 name: amygdala volume def: "quantification of the volume of the amygdala, an almond-shaped group of nuclei located deep and medially within each temporal lobe of the brain" [] is_a: EFO:0006930 ! brain volume measurement relationship: IAO:0000136 EFO:0001715 ! is_about volume relationship: IAO:0000136 UBERON:0000955 ! is_about brain relationship: IAO:0000136 UBERON:0001876 ! is_about amygdala property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006935 name: thalamus volume def: "quantification of the volume of the thalamus, a midline symmetrical structure of two halves, within the vertebrate brain, situated between the cerebral cortex and the midbrain" [] is_a: EFO:0006930 ! brain volume measurement relationship: IAO:0000136 EFO:0001715 ! is_about volume relationship: IAO:0000136 UBERON:0000955 ! is_about brain relationship: IAO:0000136 UBERON:0001897 ! is_about dorsal plus ventral thalamus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006936 name: optic disc measurement def: "Is a quantification of some aspect of the optic disk" [] def: "optic nerve head measurement" [] is_a: EFO:0004731 ! eye measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006937 name: optic disc area measurement def: "Is a quantification of the area of the optic disc" [] is_a: EFO:0006936 ! optic disc measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006938 name: optic rim area measurement def: "Is a quantification of the rim of the optic disc" [] is_a: EFO:0006936 ! optic disc measurement property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006939 name: cup-to-disc ratio measurement def: "Is a quantification of the ratio between optic cup and optic disc, used in the diagnosis of glaucoma" [] is_a: EFO:0006936 ! optic disc measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006940 name: optic cup area measurement def: "Is a quantification of the area of the optic cup" [] is_a: EFO:0006936 ! optic disc measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006941 name: grip strength measurement def: "quantification of the force applied by the hand to pull on or suspend from objects" [] is_a: EFO:0004302 ! anthropometric measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006942 name: facial pigmentation measurement def: "quantification of some aspect of facial pigmentation, such as the number, size or location of pigmentation spots" [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:0003784 ! is_about skin pigmentation property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006943 name: blood pressure change measurement def: "quantification of any change in an indiviual's blood pressure, for example in response to treatment with a antihypertensive agent" [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:0004325 ! is_about blood pressure property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006944 name: systolic blood pressure change measurement def: "quantification of any change in an indiviual's systolic blood pressure" [] is_a: EFO:0006943 ! blood pressure change measurement relationship: IAO:0000136 EFO:0006335 ! is_about systolic blood pressure property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006945 name: diastolic blood pressure change measurement def: "quantification of any change in an indiviual's diastolic blood pressure" [] is_a: EFO:0006943 ! blood pressure change measurement relationship: IAO:0000136 EFO:0006336 ! is_about diastolic blood pressure property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006946 name: behavioural disinhibition measurement def: "quantification of some aspect of behavioural disinhibition, including risky and impulsive behaviours. Behavioural disinhibition can be a marker for certain kinds of mental or behavioural disorders." [] is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006947 name: red wine liking measurement def: "quantification of an individual's appreciation of red wine" [] is_a: EFO:0006949 ! wine liking measurement relationship: IAO:0000136 GO:0050909 ! is_about sensory perception of taste property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006948 name: white wine liking measurement def: "quantification of an individual's appreciation of white wine" [] is_a: EFO:0006949 ! wine liking measurement relationship: IAO:0000136 GO:0050909 ! is_about sensory perception of taste property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006949 name: wine liking measurement def: "quantification of an individual's appreciation of wine" [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 GO:0050909 ! is_about sensory perception of taste property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006950 name: response to vincristine def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vincristine stimulus." [] is_a: EFO:0005260 ! response to antimicrotubule agent property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0006951 name: ototoxicity def: "damage to the ear, specifically the cochlea or auditory nerve as a result of some toxic stimulus, eg from a drug. Ototoxicity can result in hearing loss." [] xref: MedDRA:10033109 xref: NCIt:C66929 is_a: HP:0000364 ! Hearing abnormality property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006952 name: cytotoxicity measurement def: "quantification of some aspect of cytotoxity such as survival time or cell viability" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006953 name: family history of lung cancer def: "A reported family history of lung cancer in one or more family members." [] synonym: "family history of lung carcinoma" EXACT [] synonym: "lung cancer family history" EXACT [] is_a: EFO:0006841 ! respiratory disease biomarker is_a: EFO:0009640 ! family history of cancer relationship: IAO:0000136 MONDO:0008903 ! is_about lung cancer property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0006954 name: response to triamcinolone acetonide def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with triamcinolone acetonide" [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006955 name: ADAMTS13 activity measurement def: "quantification of the activity of the von Willebrand factor-cleaving protease ADAMTS13" [] synonym: "disintegrin and metalloproteinase with thrombospondin motifs 13 activity measurement" EXACT [] xref: PMID:25934476 is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006956 name: intraocular pressure change measurement def: "quantification of the difference in intraocular pressure between two time points" [] xref: PMID:25813999 is_a: EFO:0004731 ! eye measurement relationship: IAO:0000136 UBERON:0000970 ! is_about eye property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006957 name: X12063 measurement def: "quantification of the unknown substance X12063 in blood" [] xref: PMID:25898920 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006958 name: mannose measurement def: "quantification of mannose in a sample" [] xref: PMID:25898920 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006959 name: gene methylation measurement def: "quantification of the amount of DNA methylation in a target gene" [] xref: PMID:25713168 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 GO:0006306 ! is_about DNA methylation property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006960 name: Martuba ecotype def: "Martuba is an Arabidopsis ecotype." [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana relationship: part_of EFO:0000434 ! ecotype property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0006961 name: Tossa de Mar ecotype def: "An Arabidopsis ecotype." [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana relationship: part_of EFO:0000434 ! ecotype property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0006962 name: Mt-0 def: "An Arabidopsis ecotype." [] synonym: "Martuba-0" EXACT [] is_a: EFO:0006960 ! Martuba ecotype [Term] id: EFO:0006963 name: Ts-1 def: "An Arabidopsis ecotype." [] is_a: EFO:0006961 ! Tossa de Mar ecotype [Term] id: EFO:0006964 name: Hohenlieth ecotype def: "An Arabidopsis ecotype." [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana relationship: part_of EFO:0000434 ! ecotype property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0006965 name: Hh-0 def: "An Arabidopsis ecotype" [] is_a: EFO:0006964 ! Hohenlieth ecotype property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0006966 name: Kindalville ecotype def: "An arabidopsis ecotype." [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana relationship: part_of EFO:0000434 ! ecotype property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0006967 name: Kin-0 def: "An arabidopsis ecotype." [] is_a: EFO:0006966 ! Kindalville ecotype property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0006968 name: Estland ecotype def: "An arabidopsis ecotype." [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana relationship: part_of EFO:0000434 ! ecotype property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0006969 name: San Feliu ecotype def: "An Arabidopsis ecotype." [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana relationship: part_of EFO:0000434 ! ecotype property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0006970 name: Sf-2 def: "An arabidopsis ecotype." [] is_a: EFO:0006969 ! San Feliu ecotype property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0006971 name: Poppelsdorf ecotype def: "An arabidopsis ecotype." [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana relationship: part_of EFO:0000434 ! ecotype property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0006972 name: Po-0 def: "An arabidopsis ecotype." [] is_a: EFO:0006971 ! Poppelsdorf ecotype property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0006973 name: Oystese ecotype def: "An arabidopsis ecotype." [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana relationship: part_of EFO:0000434 ! ecotype property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0006974 name: Oy-0 def: "An arabidopsis ecotype." [] is_a: EFO:0006973 ! Oystese ecotype property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0006975 name: Nossen ecotype def: "An arabidopsis ecotype." [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana relationship: part_of EFO:0000434 ! ecotype property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0006976 name: No-0 def: "An arabidopsis ecotype." [] is_a: EFO:0006975 ! Nossen ecotype property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0006977 name: Kaunas ecotype def: "An arabidopsis ecotype." [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana relationship: part_of EFO:0000434 ! ecotype property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0006978 name: Kn-0 def: "An arabidopsis ecotype." [] is_a: EFO:0006977 ! Kaunas ecotype property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0006979 name: Hilversum ecotype def: "An Arabidopsis ecotype." [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana relationship: part_of EFO:0000434 ! ecotype property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0006980 name: Hi-0 def: "An arabidopsis ecotype." [] is_a: EFO:0006979 ! Hilversum ecotype property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0006981 name: Catania ecotype def: "An arabidopsis ecotype." [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana relationship: part_of EFO:0000434 ! ecotype property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0006982 name: Ct-1 def: "An arabidopsis ecotype." [] is_a: EFO:0006981 ! Catania ecotype property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0006983 name: Antwerpen ecotype def: "An arabidopsis ecotype." [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana relationship: part_of EFO:0000434 ! ecotype property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0006984 name: An-1 def: "An arabidopis ecotype." [] is_a: EFO:0006983 ! Antwerpen ecotype property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0006985 name: Col-7 def: "An arabidopsis ecotype directly descended from Col-1." [] comment: Laura Huerta Martinez tells us that this is directly derived from Col-1.\nSee ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= is_a: EFO:0005147 ! Columbia ecotype relationship: RO:0001000 EFO:0005149 ! derives_from Col-1 property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0006986 name: Est def: "An arabidopsis ecotype" [] is_a: EFO:0006968 ! Estland ecotype property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0006987 name: C24 ecotype def: "An arabidopsis ecotype." [] synonym: "C24" EXACT [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0006988 name: endophenotype def: "Measurable biological (physiological, biochemical, and anatomical features), behavioral (psychometric pattern) or cognitive markers that are found more often in individuals with a disease than in the general population. Because many endophenotypes are present before the disease onset and in individuals with heritable risk for disease such as unaffected family members, they can be used to help diagnose and search for causative genes." [] xref: MeSH:D058068 is_a: EFO:0000651 ! phenotype property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0006992 name: response to biological dust exposure def: "short or long term physiological response of an organism, eg in terms of deposits of dust particles in lung tissues, to exposure to biological dust, usually of occupational or environment origin" [] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006993 name: response to mineral dust exposure def: "short or long term physiological response of an organism, eg in terms of deposits of dust particles in lung tissues, to exposure to mineral dust, usually of occupational or environment origin" [] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006994 name: response to gases and fumes exposure def: "short or long term physiological response of an organism, eg in terms of deposits of particles in lung tissues, to exposure to gases and fumes, usually of occupational or environment origin" [] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006995 name: response to diisocyanate def: "short or long term physiological response of an organism, eg in terms of deposits of particles in lung tissues, to exposure to diisocyanate, usually of occupational or environment origin" [] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006996 name: response to homoharringtonine def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with the antineoplastic drug homoharringtonine, also known as omacetaxine mepesuccinate" [] synonym: "response to HHT" EXACT [] synonym: "response to omacetaxine mepesuccinate" EXACT [] is_a: GO:0097327 ! response to antineoplastic agent property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006997 name: response to cold medicine def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with any medication intended to treat or relieve symptoms of the common cold" [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006998 name: response to stavudine def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with stavudine, a nucleoside analog reverse transcriptase inhibitor used in treatment of HIV/AIDS." [] is_a: GO:0061479 ! response to reverse transcriptase inhibitor property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0006999 name: cancer aggressiveness measurement def: "quantification of the agressiveness of a (usually malignant) cancer" [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 MONDO:0004992 ! is_about cancer property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007000 name: Gleason score measurement def: "Quantification of the cytoarchitecture of a prostate cancer sample, used in the evaluation of cancer prognosis. Cancers with a higher Gleason score are generally more aggressive and have a worse prognosis." [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:0001663 ! is_about prostate carcinoma property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007001 name: dehydroepiandrosterone sulphate measurement def: "Quantification of dehydroepiandrosterone sulfate (DHEA-S) in a sample. DHEA-S is a metabolite of dehydroepiandrosterone (DHEA), the most abundant circulating steroid hormone in humans." [] synonym: "DHEA-S measurement" EXACT [] is_a: EFO:0004529 ! lipid measurement is_a: EFO:0004725 ! metabolite measurement is_a: EFO:0004730 ! hormone measurement relationship: IAO:0000136 CHEBI:16814 ! is_about dehydroepiandrosterone sulfate property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007002 name: luteinizing hormone measurement def: "Quantification of luteinizing hormone (LH) in a sample. In females, an acute rise of LH (\"LH surge\") triggers ovulation and development of the corpus luteum. In males, where LH had also been called interstitial cell–stimulating hormone (ICSH), it stimulates Leydig cell production of testosterone. It acts synergistically with FSH." [] synonym: "LH measurement" EXACT [] is_a: EFO:0004730 ! hormone measurement is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 CHEBI:24621 ! is_about hormone relationship: IAO:0000136 CHEBI:36080 ! is_about protein property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007003 name: prolactin measurement def: "quantification of prolactin in a sample" [] is_a: EFO:0004730 ! hormone measurement relationship: IAO:0000136 CHEBI:24621 ! is_about hormone property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007004 name: progesterone measurement def: "quantification of progesterone in a sample" [] is_a: EFO:0004529 ! lipid measurement is_a: EFO:0004730 ! hormone measurement relationship: IAO:0000136 CHEBI:17026 ! is_about progesterone property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007005 name: free androgen index def: "Quantification of abnormal androgen status in humans, calculated as the ratio of the total level of testosterone divided by the SHBG level, multiplied by a constant (usually 100) " [] xref: MedDRA:10073182 is_a: EFO:0011008 ! sex hormone measurement relationship: IAO:0000136 CHEBI:50113 ! is_about androgen property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007006 name: depressive symptom measurement def: "quantification of the existence and severity of depressive symptoms, usually via a questionnaire such as the Center for Epidemiological Studies Depression Scale (CES-D) " [] is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007007 name: ticagrelor measurement def: "Quantification of the amount of ticagrelor in a sample. Ticagrelor is a platelet aggregation inhibitor used for the prevention of thrombotic events in people with acute coronary syndrome or myocardial infarction with ST elevation." [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007008 name: allergy measurement def: "quantification of some aspect of an allergy, for example whether an allergy is present or its severity. Allergies are commonly quantified through measurement of allergen-specific IgE in the blood or skin reaction after puncture of skin through a droplet of allergen extract (skin prick test)" [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 MONDO:0005271 ! is_about allergic disease property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007009 name: skin pigmentation measurement def: "quantification of some aspect of skin pigmentation, such as saturation, darkness or skin sensitivity to sun" [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:0003784 ! is_about skin pigmentation property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007010 name: drug use measurement def: "quantification of some aspect of drug use, such as whether drug use occured, over what period of time it occured and what dosage was used" [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 CHEBI:23888 ! is_about drug property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007011 name: SSRI use measurement def: "quantification of some aspect of SSRI use" [] synonym: "selective serotonin reuptake inhibitor use measurement" EXACT [] is_a: EFO:0007010 ! drug use measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007012 name: NSAID use measurement def: "quantification of some aspect of NSAID use" [] synonym: "non-steroid anti-inflammatory drug use measurement" EXACT [] is_a: EFO:0007010 ! drug use measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007013 name: aspirin use measurement def: "quantification of some aspect of aspirin use" [] is_a: EFO:0007012 ! NSAID use measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007014 name: 3-hydroxypropylmercapturic acid measurement def: "quantification in a urine sample of 3-hydroxypropylmercapturic acid, one of the main metabolites of acrolein, an important constituent of cigarette smoke with well documented toxic effects" [] synonym: "3-HPMA measurement" EXACT [] is_a: EFO:0005116 ! urinary metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007015 name: 3-hydroxy-1-methylpropylmercapturic acid measurement def: "quantification in a urine sample of 3-hydroxy-1-methylpropylmercapturic acid, one of the main metabolites of crotonaldehyde, an important constituent of cigarette smoke with well documented toxic effects" [] synonym: "HMPMA measurement" EXACT [] is_a: EFO:0005116 ! urinary metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007016 name: food allergy measurement def: "quantification of the presence or severity of an allergy to some food" [] is_a: EFO:0007008 ! allergy measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007017 name: peanut allergy measurement def: "quantification of the presence or severity of an allergy to peanuts" [] is_a: EFO:0007016 ! food allergy measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007018 name: egg allergy measurement def: "quantification of the presence or severity of an allergy to eggs" [] is_a: EFO:0007016 ! food allergy measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007019 name: milk allergy measurement def: "quantification of the presence or severity of an allergy to milk or other dairy products" [] is_a: EFO:0007016 ! food allergy measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007020 name: AR-C124910XX measurement def: "Quantification of the amount of AR-C124910XX in a sample. AR-C124910XX is the active metabolite of ticagrelor formed by O-deethylation." [] is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007021 name: Lewy body measurement def: "quantification of the amount and location of Lewy bodies in a brain biopsy sample" [] is_a: EFO:0004464 ! brain measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007022 name: Zea mays cv. B73 def: "B73 is a maize inbred line. The complete genome sequence of Zea mays cv. B73 (RefGen_v1) was published in 2009 by the NSF-funded Maize Genome Sequencing Project (Schnable et al, 2009)." [] synonym: "B73 inbred line" EXACT [] synonym: "Zea mays B73 inbred line" EXACT [] synonym: "Zea mays, B73 inbred line" EXACT [] is_a: NCBITaxon:4577 ! Zea mays property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0007023 name: Glycine max cv. Williams 82. def: "Williams 82 is the soybean cultivar used to produce the reference genome sequence. It was derived from backcrossing a Phytophthora root rot resistance locus from the donor parent Kingwa into the recurrent parent Williams (PMID: 21115807)" [] is_a: NCBITaxon:3847 ! Glycine max property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0007024 name: yeast media def: "A medium to grow and maintain yeast - typically, a yeast culture medium includes peptone, yeast extract, and dextrose or glucose. Even slight differences in media composition can yield yeasts with distinct growth characteristics." [] synonym: "yeast culture media" EXACT [] synonym: "yeast growth media" EXACT [] is_a: EFO:0000579 ! media property_value: definition:citation http://www.sigmaaldrich.com/technical-documents/articles/biology/Introduction-yeast-media.html xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007025 name: YEPD def: "A complex media used for routine yeast growth. It contains yeast extract, peptone, glucose and distilled water. It can be used as a solid medium with the incusion of agar." [] synonym: "yeast extract peptone dextrose" EXACT [] synonym: "YPD" EXACT [] xref: Wikipedia:YEPD is_a: EFO:0007024 ! yeast media property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/12073320 xsd:string [Term] id: EFO:0007026 name: YEPG def: "A complex media containing a non-fermentable carbon source (glycerol), that requires respiration competence for yeast growth. It contains yeast extract, peptone, glycerol and distilled water. It can be used as a solid medium with the incusion of agar." [] synonym: "yeast extract peptone glycerol" EXACT [] synonym: "YPG" EXACT [] is_a: EFO:0007024 ! yeast media property_value: definition:citation http://openwetware.org/wiki/YPD_and_YPAD_medium xsd:string property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/12073320 xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007027 name: SD def: "A synthetic minimal media used for yeast growth; It contains a nitrogen source (Bacto-yeast nitrogen base with ammonium sulfate), glucose, distilled water, salts, trace elements and vitamins, to which various growth supplements can be added back, such as one or more amino acids. It can be used as a solid medium with the incusion of agar." [] synonym: "synthetic defined medium" EXACT [] synonym: "synthetic dextrose" EXACT [] synonym: "synthetic dextrose minimal medium" EXACT [] is_a: EFO:0007024 ! yeast media property_value: definition:citation http://openwetware.org/wiki/SD xsd:string property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/12073320 xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007028 name: SD minus nitrogen def: "A synthetic minimal media used for yeast nitrogen starvation experiments; It contains yeast nitrogen base (lacking ammonium sulfate), glucose, distilled water, salts, trace elements and vitamins, to which various growth supplements can be added back, such as one or more amino acids. It can be used as a solid medium with the incusion of agar." [] synonym: "synthetic dextrose minimal medium minus nitrogen" EXACT [] synonym: "synthetic dextrose minus nitrogen" EXACT [] is_a: EFO:0007027 ! SD property_value: definition:citation http://openwetware.org/wiki/SD xsd:string property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/12073320 xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007029 name: SC def: "A synthetic minimal media used for yeast growth. It contains a nitrogen source (Bacto-yeast nitrogen base with ammonium sulfate), glucose, distilled water, salts, trace elements and vitamins, and generally includes all amino acid supplements. It can be used as a solid medium with the incusion of agar." [] synonym: "CM" EXACT [] synonym: "CSM" EXACT [] synonym: "synthetic complete" EXACT [] is_a: EFO:0007024 ! yeast media property_value: definition:citation http://openwetware.org/wiki/SC xsd:string property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/12073320 xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007030 name: SCIM def: "A complex fatty acid induction media for yeast. It contains yeast extract, peptone, Tween 40, complete synthetic medium, ammonium sulfate, distilled water and oleic acid as carbon source." [] synonym: "S. cerevisiae induction media" EXACT [] is_a: EFO:0007024 ! yeast media property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/?term=23349476 xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007031 name: SL def: "A synthetic minimal media containing a non-fermentable carbon source (lactate) used for yeast growth. It contains yeast nitrogen base, lactate, auxotrophic requirements, distilled water and vitamins as required." [] synonym: "synthetic lactate media" EXACT [] is_a: EFO:0007024 ! yeast media property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/?term=23870129 xsd:string property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/?term=24240771 xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007032 name: F1 def: "A synthetic defined minimal media for yeast containing potassium phosphate, magnesium sulfate, sodium chloride, calcium chloride, zinc sulfate, iron (III) chloride, copper sulfate, potassium iodide, inositol, thiamine hydrochloride, pyridoxine, calcium pantothenate, biotin, uracil, glucose and distilled water." [] synonym: "F1 medium" EXACT [] is_a: EFO:0007024 ! yeast media property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/?term=12054884 xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007033 name: SPO def: "A poor media used to induce sporulation in yeast. It contains potassium acetate, yeast extract, glucose and distilled water. It can be used as a solid medium with the incusion of agar." [] synonym: "sporulation media" EXACT [] is_a: EFO:0007024 ! yeast media property_value: definition:citation http://openwetware.org/wiki/Springer_Lab:_Sporulation xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007034 name: seropositivity measurement def: "a seropositivity measurement is the quantification of an individual's exposure to a certain pathogen through the presence or absence in blood of pathogen specific circulating antibodies" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007035 name: Chlamydia pneumoniae seropositivity def: "Chlamydia pneumoniae seropositivity is the result of a measurement of circulating C. pneumoniae specific antibodies " [] is_a: EFO:0006843 ! infectious disease biomarker is_a: EFO:0007034 ! seropositivity measurement relationship: IAO:0000136 EFO:0000771 ! is_about bacterial disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007036 name: herpes virus seropositivity def: "herpes virus seropositivity is the result of a measurement of circulating herpes virus specific antibodies " [] is_a: EFO:0006843 ! infectious disease biomarker is_a: EFO:0007034 ! seropositivity measurement relationship: IAO:0000136 EFO:0000763 ! is_about viral disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007037 name: cytomegalovirus seropositivity def: "cytomegalovirus seropositivity is the result of a measurement of circulating cytomegalovirus specific antibodies " [] is_a: EFO:0006843 ! infectious disease biomarker is_a: EFO:0007034 ! seropositivity measurement relationship: IAO:0000136 EFO:0001062 ! is_about cytomegalovirus infection property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007038 name: Influenza A seropositivity def: "Influenza A seropositivity is the result of a measurement of circulating Influenza A specific antibodies " [] is_a: EFO:0007034 ! seropositivity measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007039 name: human herpesvirus 8 seropositivity def: "human herpesvirus 8 seropositivity is the result of a measurement of circulating human herpesvirus 8 specific antibodies " [] is_a: EFO:0006843 ! infectious disease biomarker is_a: EFO:0007034 ! seropositivity measurement relationship: IAO:0000136 EFO:0002612 ! is_about human herpesvirus 8 infection property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007040 name: blood lead measurement def: "Quantification of lead in a blood sample" [] is_a: EFO:0007574 ! blood toxic metal measurement relationship: IAO:0000136 CHEBI:25016 ! is_about lead atom property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007041 name: obese body mass index status def: "quantification of weight/height relationships above a certain threshold that classes an individual as overweight. This threshold may vary based on an individual's ethnicity but is commonly considered to correspond in European populations to a BMI > 30." [] synonym: "obese BMI status" EXACT [] is_a: EFO:0004340 ! body mass index property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007042 name: polychlorinated biphenyls measurement def: "quantification in a sample of some polychlorinated biphenyls, a group of man-made environmental pollutants which accumulate in humans with adverse health effects" [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 CHEBI:35446 ! is_about chlorobiphenyl property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007043 name: response to transplant def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a transplant, generally of some form of tissue" [] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007044 name: response to allogeneic hematopoietic stem cell transplant def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an allogeneic hematopoietic stem cell transplant" [] is_a: EFO:0007043 ! response to transplant property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007045 name: ATAC-seq def: "Assay for transposase-accessible chromatin using sequencing (ATAC-seq), is a method based on direct in vitro transposition of sequencing adaptors into native chromatin, and is a rapid and sensitive method for integrative epigenomic analysis. ATAC-seq captures open chromatin sites using a simple two-step protocol." [] is_a: EFO:0002693 ! DNA-seq is_a: OBI:0000711 ! library preparation property_value: definition:citation http://www.nature.com/nmeth/journal/v10/n12/full/nmeth.2688.html xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007046 name: executive function def: "A set of mental processes that controls and manages the cognitive functions." [] synonym: "executive control" EXACT [] xref: MeSH:C0935584 xref: NCIt:C88419 is_a: EFO:0004323 ! mental process property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007047 name: Toxoplasma gondii seropositivity def: "Toxoplasma gondii seropositivity is the result of a measurement of circulating T. gondii specific antibodies. T. gondii is a parasitic protozoan that causes toxoplasmosis" [] is_a: EFO:0007034 ! seropositivity measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007048 name: human herpesvirus 6 seropositivity def: "human herpesvirus 6 seropositivity is the result of a measurement of circulating human herpesvirus 6 specific antibodies" [] is_a: EFO:0007034 ! seropositivity measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007049 name: gliadin seropositivity def: "gliadim seropositivity is the result of a measurement of circulating antibodies specific to the food antigen gliadin" [] is_a: EFO:0007034 ! seropositivity measurement property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007050 name: HSV1 seropositivity def: "HSV1 seropositivity is the result of a measurement of circulating herpes simplex virus type 1 specific antibodies " [] synonym: "herpes simplex type 1 seropositivity" EXACT [] is_a: EFO:0007034 ! seropositivity measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007051 name: vein graft stenosis def: "abnormal narrowing of a vein graft site following a coronary artery bypass " [] synonym: "vein graft stricture" EXACT [] is_a: EFO:0006818 ! stricture property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007052 name: antisocial behaviour measurement def: "quantification of some aspect of adult antisocial behaviour (AAB), a form of disordered behaviour that is moderately heritable, relatively common and has adverse consequences for individuals and society. AAB is generally measured via questionnaires and psychological assessments, e.g. using a count of the number of Antisocial Personality Disorder criteria endorsed under criterion A from the Diagnostic and Statistical Manual of Mental Disorders, 4th Edition (DSM-IV)" [] synonym: "adult antisocial behaviour measurement" EXACT [] xref: PMID:25918995 is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder relationship: IAO:0000136 EFO:0004890 ! is_about anti-social behavior property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007053 name: myelosuppression def: "Myelosuppression or bone marrow suppression is a condition in which bone marrow activity is decreased, resulting in fewer red blood cells, white blood cells, and platelets. Myelosuppression is a side effect of some cancer treatments. When myelosuppression is severe, it is called myeloablation." [] synonym: "bone marrow suppression" EXACT [] xref: MedDRA:10028584 xref: NCIt:C9230 xref: SCTID:370569000 xref: SNOMEDCT:C0854467 is_a: HP:0000924 ! Abnormality of the skeletal system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007054 name: microsatellite instability measurement def: "quantification of microsatellite instability" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007055 name: microgram per gram body weight synonym: "mg/g body weight" EXACT [] is_a: UO:0000051 ! concentration unit property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0007056 name: clinical treatment def: "Where a drug or surgery has been used to treat an individual with a particular condition." [] is_a: EFO:0000727 ! treatment property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0007057 name: miotic rate def: "A measure of how fast cancer cells are dividing and growing. To find the mitotic rate, the number of cells dividing in a certain amount of cancer tissue is counted. Mitotic rate is used to help find the stage of melanoma (a type of skin cancer) and other types of cancer. Higher mitotic rates are linked with lower survival rates." [] comment: Definition taken from : http://www.cancer.gov/publications/dictionaries/cancer-terms?cdrid=681122 synonym: "MR" EXACT [] is_a: EFO:0001444 ! measurement property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0007058 name: last follow up def: "The date or time of the last check of a patient by a medical professional." [] is_a: EFO:0004949 ! clinical temporal measurement property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0007059 name: germplasm def: "Germplasm is the living genetic resources such as seeds or tissue that is maintained for the purpose of animal and plant breeding, preservation, and other research uses. These resources may take the form of seed collections stored in seed banks, trees growing in nurseries, animal breeding lines maintained in animal breeding programs or gene banks, etc. Germplasm collections can range from collections of wild species to elite, domesticated breeding lines that have undergone extensive human selection." [] xref: Wikipedia:Germplasm is_a: OBI:0000181 ! population property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0007060 name: Weiss grade def: "Grade of adrenocortical carcinoma based on the scoring system of Weiss (Weiss LM. Comparative histologic study of 43 metastasizing and nonmetastasizing adrenocortical tumors. Am J Surg Pathol 1984;8:163-9.)" [] synonym: "Weiss score" EXACT [] is_a: OBI:0600002 ! tumor grading property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0007061 name: passage number def: "The number of times a cell culture has been passaged (sub-cultured or split). " [] is_a: EFO:0001444 ! measurement property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0007062 name: tumor mass def: "The mass of a tumor." [] is_a: PATO:0000125 ! mass property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0007063 name: organism status def: "The stage premortem or postmortem at which the sample was processed for extraction of biomaterials. (from MGED ontology MO_871)." [] comment: Created that term for Atlas, as viability is not the same concept. is_a: BFO:0000019 ! quality property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0007064 name: cell cycle phase def: "Any one of the major conceptual divisions of the eukaryotic cell cycle, based on characteristic cytological and biochemical events, that occur in the order G1 (Gap 1)-S (Synthesis)-G2 (Gap 2)-M (Mitosis) and lead to cell division." [] synonym: "cell cycle stage" EXACT [] xref: NCIT:C20180 is_a: GO:0007049 ! cell cycle property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EFO:0007066 name: chronic ulcer of skin def: "Chronic skin ulceration is a common complication of diabetes, peripheral vascular disease, and disorders that decrease mobility. Local ulcer care will be successful only if the underlying cause is correctly identified and steps are taken to reverse it." [] synonym: "callous ulcer" EXACT [] synonym: "indolent ulcer" EXACT [] xref: DOID:8549 xref: MedDRA:10009155 xref: MedDRA:10009156 xref: MedDRA:10009157 xref: PMID:1425405 is_a: HP:0200042 ! Skin ulcer relationship: has_modifier HP:0011010 ! Chronic relationship: RO:0002314 UBERON:0000014 ! inheres in part of zone of skin property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007067 name: decubitus ulcer def: "Decubitus ulcer is a chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure." [] synonym: "bed sore" EXACT [] synonym: "pressure sore" EXACT [] synonym: "pressure ulcer" EXACT [] xref: DOID:8717 xref: ICD10:L89 xref: MedDRA:10011985 is_a: EFO:0007066 ! chronic ulcer of skin property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007068 name: ulcer of lower limb def: "Ulcer of lower limbs is a chronic ulcer of skin where the ulcer is not a decubitus ulcer." [] synonym: "ulcer of lower limbs" EXACT [] xref: DOID:8529 xref: ICD10:L97 is_a: EFO:0007066 ! chronic ulcer of skin property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007069 name: 3134 def: "Mouse 3134 is a murine mammary adenocarcinoma cell line generated in Dr. Gordon Hager’s laboratory at the National Institutes of Health, Bethesda, MD." [] is_a: CL:0000010 ! cultured cell relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation https://genome.ucsc.edu/ENCODE/protocols/cell/mouse/3134_Stam_protocol.pdf xsd:string [Term] id: EFO:0007070 name: ACC112 def: "ACC112 was established from a salivary glad tumor of a 70-year-old male. Adenoid cystic carcinoma cell line supplied by Lurdes Queimado, M.D., Ph.D. Phone: 405-271-4232 (office); 405-271-4279 (lab); cells immortalized by infection with a retrovirus expressing HPV16 E6 and E7" [] synonym: "UTSW-ACC112" EXACT [] is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000231 ! adenoid cystic carcinoma relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/10328235 xsd:string [Term] id: EFO:0007071 name: BG01 def: "The hES line BG01 with a normal 46XY karyotype was derived from fibroblasts of an embryonic male human." [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0003040 ! embryonic cell line is_a: EFO:0005738 ! ESC derived cell line relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.iscr-admin.com/Default.aspx?Action=viewsc&StemCellLine=62&StemCelName=BG01 xsd:string [Term] id: EFO:0007072 name: C0202 def: "A B-lymphoblastoid cell line derived from a randomly selected Caucasian blood donor whose parents and grandparents were born in the UK or Ireland. The cell line was generated by Epstein-Barr Virus (EBV) transformation of peripheral blood lymphocytes. This cell line is part of the European Collection of Cell Cultures (ECACC) Human Random Control (HRC) collection." [] is_a: EFO:0005292 ! lymphoblastoid cell line relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.sigmaaldrich.com/catalog/product/sigma/94060845?lang=en®ion=US xsd:string [Term] id: EFO:0007073 name: CyT49 def: "This hESC line was isolated using human feeder cells under good manufacturing process (GMP) conditions. NIH registration: 0041." [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0003040 ! embryonic cell line is_a: EFO:0005738 ! ESC derived cell line property_value: definition:citation http://discovery.lifemapsc.com/stem-cell-differentiation/in-vitro-cells/inner-cell-mass-homo-sapiens-cyt49-viacyte-novocell-san-diego-ca xsd:string [Term] id: EFO:0007074 name: DND-41 def: "DND-41 was established from the peripheral blood of 13-year-old boy with T-acute lymphoblastic leukemia (T-ALL; type III cortical) in 1977; described to carry CDKN2B (p15INK4B) and CDKN2A (p16INK4A) deletions and TP53 (p53)mutation." [] synonym: "ACC525" EXACT [] xref: CLO:0009834 xref: RRID:CVCL_2022 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000209 ! T-cell acute lymphoblastic leukemia relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation https://www.dsmz.de/catalogues/details/culture/ACC-525.html xsd:string [Term] id: EFO:0007075 name: ES-E14 def: "Mouse embryonic stem cell line E14." [] is_a: EFO:0002887 ! mouse cell line is_a: EFO:0003040 ! embryonic cell line is_a: EFO:0005738 ! ESC derived cell line relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSM1014154 xsd:string [Term] id: EFO:0007076 name: ES-I3 def: "The I3 stem cell line was derived from donated blastocysts by removal of the trophoblast layer and further culturing of the intact inner cell mass on mitotically inactivated mouse embryonic fibroblast (MEF) feeder cells. Following injection into SCID mice, the I3 line formed teratomas that contained tissues from all three embryonic germ layers. This line exhibits a normal XX karyotype. These cells were provided by Alex Meissner and maintained in mTeSR medium." [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0003040 ! embryonic cell line is_a: EFO:0005738 ! ESC derived cell line relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSM537624 xsd:string [Term] id: EFO:0007077 name: GM06999 def: "Lymphoblastoid cells taken from the blood of a female human." [] is_a: EFO:0005292 ! lymphoblastoid cell line relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSM659931 xsd:string [Term] id: EFO:0007078 name: HUES13 def: "Human embryonic stem cell line with a normal 46XY karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on 10% KOSR (Invitrogen) medium." [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0003040 ! embryonic cell line is_a: EFO:0005738 ! ESC derived cell line relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.nejm.org/doi/full/10.1056/NEJMsr040330 xsd:string [Term] id: EFO:0007079 name: HUES28 def: "Human embryonic stem cell line with a normal 46XX karyotype, pluripotency tested in vivo (teratoma). The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [PMCID: PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0003040 ! embryonic cell line is_a: EFO:0005738 ! ESC derived cell line relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3335201/ xsd:string [Term] id: EFO:0007080 name: HUES3 def: "Human embryonic stem cell line with a normal 46XY karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0003040 ! embryonic cell line is_a: EFO:0005738 ! ESC derived cell line relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.nejm.org/doi/full/10.1056/NEJMsr040330 xsd:string [Term] id: EFO:0007081 name: HUES44 def: "Human embryonic stem cell line derived from human blastocysts. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on 10% KOSR (Invitrogen) medium." [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0003040 ! embryonic cell line is_a: EFO:0005738 ! ESC derived cell line relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3335201/ xsd:string [Term] id: EFO:0007082 name: HUES45 def: "Human embryonic stem cell line derived from human blastocysts. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on 10% KOSR (Invitrogen) medium." [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0003040 ! embryonic cell line is_a: EFO:0005738 ! ESC derived cell line relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3335201/ xsd:string [Term] id: EFO:0007083 name: HUES48 def: "Human embryonic stem cell line with a normal 46XX karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, NANOG, and TRA-1-81. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0003040 ! embryonic cell line is_a: EFO:0005738 ! ESC derived cell line relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3335201/ xsd:string [Term] id: EFO:0007084 name: HUES49 def: "Human embryonic stem cell line with a normal 46XX karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0003040 ! embryonic cell line is_a: EFO:0005738 ! ESC derived cell line relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3335201/ xsd:string [Term] id: EFO:0007085 name: HUES53 def: "Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, TRA1-60, TRA1-81 and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0003040 ! embryonic cell line is_a: EFO:0005738 ! ESC derived cell line relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3335201/ xsd:string [Term] id: EFO:0007086 name: HUES6 def: "Human embryonic stem cell line with a normal 46XX karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0003040 ! embryonic cell line is_a: EFO:0005738 ! ESC derived cell line relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.nejm.org/doi/full/10.1056/NEJMsr040330 xsd:string [Term] id: EFO:0007087 name: HUES62 def: "Human embryonic stem cell line with a normal 46XX karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0003040 ! embryonic cell line is_a: EFO:0005738 ! ESC derived cell line relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3335201/ xsd:string [Term] id: EFO:0007088 name: HUES63 def: "Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0003040 ! embryonic cell line is_a: EFO:0005738 ! ESC derived cell line relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3335201/ xsd:string [Term] id: EFO:0007089 name: HUES64 def: "Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0003040 ! embryonic cell line is_a: EFO:0005738 ! ESC derived cell line relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3335201/ xsd:string [Term] id: EFO:0007090 name: HUES64-derived CD184+ def: "HUES64 cells were differentiated into CD184+ endothelial cells in feeder free conditions, using RPMI containing 100ng/mL of Activin A and 50ng/mL of Wnt3a, for 5 days. On day 5, the CD184 positive population was sorted via FACS. Cells come from a healthy male embryo provided by Harvard University." [] is_a: EFO:0005730 ! endothelial cell derived cell line relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSM772725 xsd:string [Term] id: EFO:0007091 name: HUES65 def: "Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0003040 ! embryonic cell line is_a: EFO:0005738 ! ESC derived cell line relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3335201/ xsd:string [Term] id: EFO:0007092 name: HUES66 def: "Human embryonic stem cell line derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, NANOG, and TRA-1-60. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0003040 ! embryonic cell line is_a: EFO:0005738 ! ESC derived cell line relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3335201/ xsd:string [Term] id: EFO:0007093 name: HUES8 def: "Human embryonic stem cell line with a normal 46XY karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0003040 ! embryonic cell line is_a: EFO:0005738 ! ESC derived cell line relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.nejm.org/doi/full/10.1056/NEJMsr040330 xsd:string [Term] id: EFO:0007094 name: HUES9 def: "Human embryonic stem cell line with an abnormal 46XX, Inv9 karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0003040 ! embryonic cell line is_a: EFO:0005738 ! ESC derived cell line relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.nejm.org/doi/full/10.1056/NEJMsr040330 xsd:string [Term] id: EFO:0007095 name: iPS DF 19.7 def: "IPS DF 19.7 cell line is an induced pluripotent stem cell line, derived from newborn foreskin fibroblasts. Cells were received from the James Thomson laboratory, who originally reprogrammed the cells from fibroblasts provided by ATCC (Cat# CRL-2097TM). The first set of numbers before the period refer to different clones, the number after the period indicates the sub-clone. The differentiation method is described here: http://www.sciencemag.org/cgi/content/full/324/5928/797?rss=1" [] xref: PMID:19325077 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005740 ! iPSC derived cell line property_value: definition:citation http://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSM665800 xsd:string [Term] id: EFO:0007096 name: iPS DF 19.11 def: "Human induced pluripotent stem cell line line derived from foreskin fibroblasts, isolated as described by Yu, J. et al. Human induced pluripotent stem cell lines free of vector and transgene sequences. Science 324, 797-801 (2009). Cells were received from the James Thomson laboratory, who originally reprogrammed the cells from fibroblasts provided by ATCC. The first set of numbers before the period refer to different clones, the number after the period indicates the sub-clone. Cells were maintained on mTeSR medium." [] xref: PMID:19325077 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005740 ! iPSC derived cell line relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSM752965 xsd:string [Term] id: EFO:0007097 name: iPS DF 4.7 def: "IPS DF 4.7 cell line is an induced pluripotent stem cell line, derived from newborn foreskin fibroblasts. Cells were received from the James Thomson laboratory, who originally reprogrammed the cells from fibroblasts provided by ATCC (Cat# CRL-2097TM). The first set of numbers before the period refer to different clones, the number after the period indicates the sub-clone. The differentiation method is described here: http://www.sciencemag.org/cgi/content/full/324/5928/797?rss=1" [] xref: PMID:19325077 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005740 ! iPSC derived cell line property_value: definition:citation http://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSM665803 xsd:string [Term] id: EFO:0007098 name: iPS DF 6.9 def: "Human induced pluripotent stem cell line line derived from foreskin fibroblasts, isolated as described by Yu, J. et al. Human induced pluripotent stem cell lines free of vector and transgene sequences. Science 324, 797-801 (2009). Cells were received from the James Thomson laboratory, who originally reprogrammed the cells from fibroblasts provided by ATCC. The first set of numbers before the period refer to different clones, the number after the period indicates the sub-clone. Cells were maintained on mTeSR medium." [] xref: PMID:19325077 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005740 ! iPSC derived cell line relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSM706073 xsd:string [Term] id: EFO:0007099 name: iPS-11a def: "Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: normal, 46XY [90%]; abnormal, extra marker chr [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4. [PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005740 ! iPSC derived cell line relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/21293464 xsd:string [Term] id: EFO:0007100 name: iPS-11b def: "Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: normal, 46XY [95%]; abnormal, 47XY +1 [5%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4. [PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005740 ! iPSC derived cell line relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/21293464 xsd:string [Term] id: EFO:0007101 name: iPS-11c def: "Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: normal, 46XY [75%]; abnormal, 46 XY del in chr 2 [25%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on 10% KOSR medium." [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005740 ! iPSC derived cell line relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/21293464 xsd:string [Term] id: EFO:0007102 name: iPS-15b def: "Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX [55%]; Abnormal, +(1)(q25.3) [40%]; trisomy X, +(1)(q25.3) [5%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005740 ! iPSC derived cell line relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/21293464 xsd:string [Term] id: EFO:0007103 name: iPS-17a def: "Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4. [PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005740 ! iPSC derived cell line relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/21293464 xsd:string [Term] id: EFO:0007104 name: iPS-17b def: "Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005740 ! iPSC derived cell line relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/21293464 xsd:string [Term] id: EFO:0007105 name: iPS-18a def: "Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX [90%]; Abnormal, 45XO [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005740 ! iPSC derived cell line relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/21293464 xsd:string [Term] id: EFO:0007106 name: iPS-18b def: "Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005740 ! iPSC derived cell line relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/21293464 xsd:string [Term] id: EFO:0007107 name: iPS-18c def: "Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005740 ! iPSC derived cell line relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/21293464 xsd:string [Term] id: EFO:0007108 name: iPS-20b def: "Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XY [90%]; Abnormal, non clonal tetraploid [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005740 ! iPSC derived cell line relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/21293464 xsd:string [Term] id: EFO:0007109 name: iPS-27b def: "Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Abnormal, 47XX +17, addition to 9 [80%]; Normal, 46XX [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on 10% KOSR medium." [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005740 ! iPSC derived cell line relationship: has_characteristic MONDO:0004976 ! amyotrophic lateral sclerosis relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/21293464 xsd:string [Term] id: EFO:0007110 name: iPS-27e def: "Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX [95%]; Abnormal, 47XX +17 [5%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on 10% KOSR medium." [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005740 ! iPSC derived cell line relationship: has_characteristic MONDO:0004976 ! amyotrophic lateral sclerosis relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/21293464 xsd:string [Term] id: EFO:0007111 name: iPS-5 def: "This induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts, by viral transduction of OCT4, SOX2, KLF4, MYC, hTERT, and SV40 large T (hTERT and SV40 large T did not integrate)." [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005740 ! iPSC derived cell line relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation http://discovery.lifemapsc.com/stem-cell-differentiation/in-vitro-cells/inner-cell-mass-homo-sapiens-ips5-childrens-hospital-corporationboston' xsd:string [Term] id: EFO:0007112 name: Loucy def: "Loucy was established in 1987 from the peripheral blood of a 38-year-old female patient with T-cell acute lymphoblastic leukemia (T-ALL) obtained two months prior to her death. May be of value in evaluating the role of t(16;20) in the etiology of T-ALL." [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000209 ! T-cell acute lymphoblastic leukemia relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed?cmd=Retrieve&list_uids=2208060 xsd:string [Term] id: EFO:0007113 name: ML-DmD23 def: "This cell line was derived from the third instar larval stage of dorsal mesothoracic discs. Originated from the Mikyake lab." [] synonym: "D23" EXACT [] synonym: "DmD23" EXACT [] synonym: "ML DmD23" EXACT [] synonym: "ML_DmD23" EXACT [] is_a: EFO:0003040 ! embryonic cell line relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation https://dgrc.bio.indiana.edu/product/View?product=121 xsd:string [Term] id: EFO:0007114 name: ML-DmD23-c4 def: "This cell line was cloned from ML-DmD23 cell line, which was derived from the third instar larval stage of dorsal mesothoracic discs. ML-DmD23-C4 cells are male, by criteria of roX gene expression and Sxl splicing (Stoiber et al., 2016, G3, in press). Originated from the Mikyake lab." [] synonym: "D23-c4" EXACT [] synonym: "DmD23-c4" EXACT [] synonym: "DmD_c4" EXACT [] synonym: "ML DmD23 c4" EXACT [] synonym: "ML_DmD23_c4" EXACT [] is_a: EFO:0003040 ! embryonic cell line relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation https://dgrc.bio.indiana.edu/product/View?product=89 xsd:string [Term] id: EFO:0007115 name: NC-NC def: "Human B-lymphoblastoid cells established from peripheral blood lymphocytes of a 27-year-old white Caucasian woman by Epstein-Barr virus (EBV) transformation in 1990; suitable normal control cell line for toxicity or radiosensitivity assays confirmed as human with IEF of AST, NP." [] synonym: "ACC120" EXACT [] is_a: EFO:0005292 ! lymphoblastoid cell line relationship: has_characteristic EFO:0000769 ! Epstein-Barr virus infection relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://bioinformatics.hsanmartino.it/cldb/cl3650.html xsd:string [Term] id: EFO:0007116 name: UCSF4 def: "The hESC line UCSF4 with a normal 46XX karyotype was derived from a blastocyst-stage embryo on human foreskin fibroblasts." [] synonym: "UCSF-4" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0003040 ! embryonic cell line is_a: EFO:0005738 ! ESC derived cell line relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation http://grants.nih.gov/stem_cells/registry/current.htm?id=200 xsd:string [Term] id: EFO:0007117 name: carotid artery intima media thickness def: "quantification of the thickness of tunica intima and tunica media, the innermost two layers of the wall of the carotid artery, usually by carotid ultrasound" [] is_a: EFO:0007717 ! carotid artery geometry measurement relationship: IAO:0000136 UBERON:0001981 ! is_about blood vessel relationship: IAO:0000136 UBERON:0005396 ! is_about carotid artery segment property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007118 name: sitting height ratio def: "ratio of sitting height to total body height" [] is_a: EFO:0007861 ! body ratio measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007119 name: Sasang constitutional medicine type def: "one of four constitutional types used to classify individuals in traditional Korean medicine" [] is_a: BFO:0000019 ! quality relationship: IAO:0000136 EFO:0004892 ! is_about Sasang constitutional medicine property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007120 name: Tae-Yang def: "Constitutional type in traditional Korean medicine. Individuals classed under this type are supposed to have large lungs and a small liver. They have superiority in function, and are born with inferiority." [] xref: PMID:25888059 xref: Wikipedia:Sasang_typology is_a: EFO:0007119 ! Sasang constitutional medicine type property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007121 name: So-Yang def: "Constitutional type in traditional Korean medicine. Individuals classed under this type are supposed to have a large spleen, and small kidneys. They have whitish skin. Like So-Eum, many of this type are skinny." [] xref: PMID:25888059 xref: Wikipedia:Sasang_typology is_a: EFO:0007119 ! Sasang constitutional medicine type property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007122 name: Tae-Eum def: "Constitutional type in traditional Korean medicine. Individuals classed under this type are supposed to have have a large liver and small lungs. They are tall and the majority gain a lot of weight. They are patient and have a reserved personality. Therefore, if they are given a task, they will not give up, no matter what task it is. Because of this personality, they are prone to gambling." [] xref: PMID:25888059 xref: Wikipedia:Sasang_typology is_a: EFO:0007119 ! Sasang constitutional medicine type property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007123 name: So-Eum def: "Constitutional type in traditional Korean medicine. Individuals classed under this type are supposed to have large kidneys and a small spleen. They are short and many are skinny. Due to weak intestines, they very often have digestive problem. Many enjoy a meat diet." [] xref: PMID:25888059 xref: Wikipedia:Sasang_typology is_a: EFO:0007119 ! Sasang constitutional medicine type property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007124 name: salivary gland lesion def: "lesion occuring in or on the salivary gland" [] xref: SNOMEDCT:300257000 is_a: HP:0000153 ! Abnormality of the mouth property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007125 name: lachrymal gland lesion def: "lesion occuring in or on the lacrimal gland" [] synonym: "lacrimal gland lesion" EXACT [] is_a: HP:0000478 ! Abnormality of the eye property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007126 name: Acanthamoeba keratitis def: "A parasitic protozoa infectious disease that involves infection of the cornea of the eye with Acanthamoeba in people wearing contact lenses. The symptoms include eye pain, eye redness, blurred vision, sensitivity to light, excessive tearing and sensation of something in the eye." [] def: "Keratitis due to infection by acanthamoeba; it is usually associated with soft contact lens wear, particularly overnight wear." [NCIT:C50450] subset: gard_rare {source="GARD:0009285"} subset: ordo_disease {source="Orphanet:67043"} synonym: "Acanthameba keratitis" EXACT [] synonym: "Acanthamoeba caused keratitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Acanthamoeba Keratitis" EXACT [] synonym: "Acanthamoeba keratitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Acanthamoeba keratitis (disorder)" EXACT [] synonym: "keratitis, Acanthamoeba" EXACT [NCIT:C50450] xref: DOID:11896 xref: ICD10EXP:B60.1+ {source="Orphanet:67043/ntbt", source="Orphanet:67043"} xref: ICD10EXP:H19.2* {source="Orphanet:67043/ntbt", source="Orphanet:67043"} xref: ICD9:370.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10069408 {source="Orphanet:67043/e", source="Orphanet:67043"} xref: MESH:D015823 {source="EFO:0007126", source="Orphanet:67043/e", source="MONDO:equivalentTo", source="Orphanet:67043"} xref: MeSH:D015823 xref: MONDO:0005629 xref: NCIT:C50450 {source="MONDO:equivalentTo"} xref: Orphanet:67043 {source="MONDO:equivalentTo"} xref: SCTID:231896005 {source="MONDO:equivalentTo"} xref: UMLS:C0000880 {source="Orphanet:67043/e", source="MONDO:equivalentTo", source="NCIT:C50450", source="Orphanet:67043"} is_a: MONDO:0002428 {source="MESH:D015823/inferred", source="NCIT:C50450"} ! protozoa infectious disease is_a: MONDO:0021747 ! Acanthamoeba infectious disease is_a: MONDO:0023865 ! corneal infection is_a: MONDO:0024315 ! parasitic endophthalmitis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare property_value: closeMatch http://identifiers.org/meddra/10069408 property_value: exactMatch http://identifiers.org/mesh/D015823 property_value: exactMatch http://identifiers.org/snomedct/231896005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0000880 property_value: exactMatch NCIT:C50450 property_value: exactMatch Orphanet:67043 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9285/acanthamoeba-keratitis xsd:anyURI {source="GARD:0009285"} [Term] id: EFO:0007127 name: actinobacillosis def: "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinobacillus ureae, which is a commensal of the human respiratory tract. The pathogen causes meningitis, endocarditis, bacteremia, atrophic rhinitis, bronchitis, pneumonia, conjunctivitis, peritonitis, and otitis media." [] synonym: "Actinobacillosis" EXACT [] synonym: "Actinobacillosis, NOS" EXACT [] xref: DOID:4974 xref: MeSH:D000187 is_a: EFO:0000771 ! bacterial disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007128 name: actinomycosis def: "A commensal bacterial infectious disease that results_in infection, which is characterized by contiguous spread, suppurative and granulomatous inflammation, and formation of multiple abscesses and sinus tracts that may discharge sulfur granules, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces gerencseriae, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus, has_material_basis_in Actinomyces meyeri, has_material_basis_in Propionibacterium propionicum, which require a break in the integrity of the mucous membranes and the presence of devitalized tissue to invade deeper body structures." [] def: "Actinomycosis is a chronic bacterial infection that commonly affects the face and neck. It is usually caused by an anaerobic bacteria called Actinomyces israelii. Actinomyces are normal inhabitants of the mouth, gastrointestinal tract, and female genital tract, and do not cause an infection unless there is a break in the skin or mucosa. The infection usually occurs in the face and neck, but can sometimes occur in the chest, abdomen, pelvis, or other areas of the body. The infection is not contagious." [https://rarediseases.info.nih.gov/diseases/5728/actinomycosis] subset: gard_rare {source="GARD:0005728"} subset: ordo_disease {source="Orphanet:457095"} synonym: "Actinomyces infection" EXACT [MONDO:patterns/infectious_disease_by_agent] synonym: "Actinomyces israeli" RELATED [GARD:0005728] synonym: "Actinomycetes" RELATED [GARD:0005728] synonym: "actinomycetoma" RELATED [DOID:8478] synonym: "Actinomycosis" EXACT [] synonym: "actinomycosis" EXACT [] {comment="preferred label from MONDO"} synonym: "actinomycotic infection" EXACT [] synonym: "actinomycotic madura foot" EXACT [DOID:8478] synonym: "Actinomycotic madura foot (disorder)" EXACT [] synonym: "Actinomycotic mycetema" EXACT [] synonym: "actinomycotic mycetema" EXACT [DOID:8478] synonym: "Actinomycotic mycetoma of foot" EXACT [] synonym: "actinomycotic mycetoma of foot" EXACT [DOID:8478] synonym: "anaerobic Actinomyces infection" RELATED [GARD:0005728] synonym: "boil" RELATED [DOID:8478] synonym: "canaliculitis" RELATED [GARD:0005728] synonym: "infections, Actinomyces" RELATED [MONDO:patterns/infectious_disease_by_agent] synonym: "Keratoactinomycosis" RELATED [GARD:0005728] synonym: "Madura foot due to Actinomadura" EXACT [DOID:8478] synonym: "Madura foot due to Actinomadura (disorder)" EXACT [] xref: DOID:8478 {source="EFO:0007128", source="MONDO:equivalentTo"} xref: ICD10:A42 xref: ICD9:039 {source="DOID:8478"} xref: ICD9:039.9 {source="DOID:8478", source="MONDO:directSiblingOf"} xref: MedDRA:10000620 xref: MedDRA:10000625 xref: MedDRA:10000626 xref: MESH:D000196 {source="DOID:8478", source="EFO:0007128", source="MONDO:equivalentTo"} xref: MeSH:D000196 xref: MONDO:0005631 xref: NCIT:C34350 {source="DOID:8478", source="MONDO:equivalentTo"} xref: Orphanet:457095 {source="MONDO:equivalentTo"} xref: SCTID:11817007 {source="DOID:8478", source="MONDO:directSiblingOf"} xref: UMLS:C0001261 {source="DOID:8478", source="NCIT:C34350", source="MONDO:equivalentTo"} is_a: EFO:1001122 ! primary Actinomycetales infectious disease is_a: MONDO:0000315 {source="DOID:8478"} ! commensal bacterial infectious disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare property_value: exactMatch DOID:8478 property_value: exactMatch http://identifiers.org/mesh/D000196 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001261 property_value: exactMatch NCIT:C34350 property_value: exactMatch Orphanet:457095 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5728/actinomycosis xsd:anyURI {source="GARD:0005728"} [Term] id: EFO:0007129 name: acute chest syndrome def: "A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph." [] def: "A vaso-occlusive crisis of the pulmonary vasculature occurring in patients with sickle cell disease. It is characterized by the presence of a new radiodensity on a chest radiograph accompanied by fever, cough, sputum production, dyspnea, or hypoxia." [NCIT:C138179] synonym: "ACS" EXACT ABBREVIATION [NCIT:C138179] synonym: "Acute Chest Syndrome" EXACT [] synonym: "acute chest syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "acute chest syndrome in sickle cell disease" EXACT [DOID:1584] xref: DOID:1584 {source="EFO:0007129", source="MONDO:equivalentTo"} xref: ICD9:517.3 {source="DOID:1584", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10051895 xref: MESH:D056586 {source="DOID:1584", source="EFO:0007129", source="MONDO:equivalentTo"} xref: MeSH:D056586 xref: MONDO:0005632 xref: NCIT:C138179 {source="MONDO:equivalentTo"} xref: SCTID:372146004 {source="DOID:1584", source="MONDO:equivalentTo"} xref: UMLS:C0742343 {source="DOID:1584", source="MONDO:equivalentTo"} is_a: EFO:0003818 {source="DOID:1584", source="EFO:0007129", source="MESH:D056586"} ! lung disease is_a: MONDO:0002254 {source="NCIT:C138179"} ! syndromic disease is_a: MONDO:0020683 ! acute disease relationship: disease_arises_from_feature MONDO:0011382 ! sickle cell anemia property_value: exactMatch DOID:1584 property_value: exactMatch http://identifiers.org/mesh/D056586 property_value: exactMatch http://identifiers.org/snomedct/372146004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0742343 property_value: exactMatch NCIT:C138179 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007130 name: acute disseminated encephalomyelitis def: "Acute disseminated encephalomyelitis (ADEM) is a demyelinating disorder of the central nervous system." [Orphanet:83597] def: "An encephalomyelitis characterized by inflammation located_in brain and located_in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection." [] subset: gard_rare {source="GARD:0008639"} subset: ordo_disease {source="Orphanet:83597"} synonym: "acute disseminated encephalitis" EXACT [DOID:639, Orphanet:83597] synonym: "acute Disseminated Encephalomyelitis" EXACT [] synonym: "acute disseminated encephalomyelitis" EXACT [DOID:639, NCIT:C34578] synonym: "acute disseminated encephalomyelitis" EXACT [] {comment="preferred label from MONDO"} synonym: "acute disseminated encephalomyelitis (disorder)" EXACT [] synonym: "ADE" RELATED ABBREVIATION [GARD:0008639] synonym: "ADEM" EXACT ABBREVIATION [DOID:639, ICD9:323.61, Orphanet:83597] synonym: "Encephalomyelitis, Acute Disseminated" EXACT [] xref: DOID:639 {source="MONDO:equivalentTo", source="EFO:0007130"} xref: ICD9:136.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10000709 xref: MESH:D004673 {source="DOID:639", source="MONDO:equivalentTo", source="EFO:0007130"} xref: MeSH:D004673 xref: MONDO:0019383 xref: NCIT:C34578 {source="DOID:639", source="MONDO:equivalentTo"} xref: Orphanet:83597 {source="MONDO:equivalentTo"} xref: SCTID:83942000 {source="DOID:639", source="MONDO:equivalentTo"} xref: UMLS:C0014059 {source="Orphanet:83597", source="DOID:639", source="MONDO:equivalentTo", source="NCIT:C34578"} is_a: MONDO:0016428 {source="Orphanet:83597"} ! multiple sclerosis variant is_a: MONDO:0020068 {source="Orphanet:83597"} ! postinfectious encephalitis property_value: exactMatch DOID:639 property_value: exactMatch http://identifiers.org/mesh/D004673 property_value: exactMatch http://identifiers.org/snomedct/83942000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014059 property_value: exactMatch NCIT:C34578 property_value: exactMatch Orphanet:83597 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8639/acute-disseminated-encephalomyelitis xsd:anyURI {source="GARD:0008639"} [Term] id: EFO:0007131 name: acute hemorrhagic conjunctivitis def: "A viral infectious disease that results_in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 or has_material_basis_in Human enterovirus 70, which are transmitted_by contaminated fomites or transmitted_by contact with contaminated hands. The infection has_symptom vascular dilation, has_symptom eyelid edema, has_symptom photophobia, has_symptom redness of the eyes, has_symptom watering of the eye, has_symptom conjunctival congestion, and has_symptom superficial punctate epithelial keratitis." [] def: "Acute conjunctivitis that is characterized by bleeding into the conjunctiva." [NCIT:P378] synonym: "acute hemorrhagic conjunctivitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Apollo disease" EXACT [DOID:11227] synonym: "Conjunctivitis, Acute Hemorrhagic" EXACT [] synonym: "Epidemic hemorrhagic conjunctivitis" EXACT [] synonym: "epidemic hemorrhagic conjunctivitis" EXACT [DOID:11227, ICD9CM:077.4] synonym: "viral conjunctivitis" RELATED [DOID:11227] xref: DOID:11227 {source="MONDO:equivalentTo", source="EFO:0007131"} xref: ICD9:077.4 {source="DOID:11227"} xref: MedDRA:10067818 xref: MESH:D003232 {source="DOID:11227", source="MONDO:equivalentTo", source="EFO:0007131"} xref: MeSH:D003232 xref: MONDO:0005634 xref: NCIT:C34505 {source="DOID:11227", source="MONDO:equivalentTo"} xref: SCTID:398264003 {source="DOID:11227", source="MONDO:equivalentTo"} xref: UMLS:C0009765 {source="DOID:11227", source="MONDO:equivalentTo", source="NCIT:C34505"} is_a: EFO:0008571 ! viral conjunctivitis is_a: MONDO:0001214 {source="NCIT:C34505"} ! acute conjunctivitis property_value: exactMatch DOID:11227 property_value: exactMatch http://identifiers.org/mesh/D003232 property_value: exactMatch http://identifiers.org/snomedct/398264003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009765 property_value: exactMatch NCIT:C34505 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007132 name: acute hemorrhagic leukoencephalitis def: "A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema." [] def: "Acute hemorrhagic leukoencephalitis(AHL) is a veryrareform of acute disseminated encephalomyelitis that usuallyresults indeath. It is characterized by a brief but intense attack of inflammation in the brain and spinal cord that damages the myelin -- the protective covering of the nerve fibers. It may also cause bleeding in the brain, leading to damage of the white matter. Symptoms usually come on quickly, beginning with symptoms such as fever, neck stiffness, fatigue, headache, nausea vomiting,seizures, and coma.AHL has a very poor prognosis, with rapid deterioration and death usually occurring within days to one week after onset of symptoms because of severe inflammation in the brain. Although the exact cause is unclear,AHL usually followsaviral infection, or less often, vaccination for measles, mumps, or rubella. Some researchers think that an infection or vaccination can initiate an autoimmune process in the body thus leading to AHL." [https://rarediseases.info.nih.gov/diseases/8629/acute-hemorrhagic-leukoencephalitis] subset: gard_rare {source="GARD:0008629"} synonym: "acute haemorrhagic leucoencephalitis of Weston Hurst" EXACT [DOID:10992] synonym: "acute hemorrhagic encephalomyelitis" EXACT [DOID:10992] synonym: "acute hemorrhagic leukoencephalitis" EXACT [OMIM:606752] synonym: "acute hemorrhagic leukoencephalitis" EXACT [] {comment="preferred label from MONDO"} synonym: "acute necrotizing hemorrhagic leukoencephalitis" EXACT [DOID:10992] synonym: "AHL" EXACT ABBREVIATION [DOID:10992, OMIM:606752] synonym: "Ahl" RELATED [OMIM:606752] synonym: "AHLE" RELATED ABBREVIATION [GARD:0008629] synonym: "Leukoencephalitis, Acute Hemorrhagic" EXACT [] synonym: "Weston-Hurst syndrome" EXACT [DOID:10992] xref: DOID:10992 {source="MONDO:equivalentTo", source="EFO:0007132"} xref: ICD9:136.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10058993 xref: MESH:D004684 {source="MONDO:equivalentTo", source="EFO:0007132", source="DOID:10992"} xref: MeSH:D004684 xref: MONDO:0011716 xref: NCIT:C84535 {source="MONDO:equivalentTo", source="DOID:10992"} xref: OMIM:606752 {source="MONDO:equivalentTo", source="DOID:10992"} xref: SCTID:72986009 {source="MONDO:equivalentTo", source="DOID:10992"} xref: UMLS:C0014077 {source="NCIT:C84535", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:606752", source="DOID:10992"} is_a: EFO:0007130 {source="DOID:10992", source="MESH:D004684"} ! acute disseminated encephalomyelitis is_a: MONDO:0003337 {source="NCIT:C84535"} ! acute hemorrhagic encephalitis relationship: RO:0000056 GO:0006954 ! participates_in inflammatory response property_value: exactMatch DOID:10992 property_value: exactMatch http://identifiers.org/mesh/D004684 property_value: exactMatch http://identifiers.org/snomedct/72986009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014077 property_value: exactMatch https://omim.org/entry/606752 property_value: exactMatch NCIT:C84535 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8629/acute-hemorrhagic-leukoencephalitis xsd:anyURI {source="GARD:0008629"} [Term] id: EFO:0007133 name: adenomyoma def: "A benign neoplasm characterized by the presence of a glandular and a mesenchymal (fibromyomatous) component. It occurs in the uterine corpus and the cervix. A variant of adenomyoma associated with glandular architectural complexity is called atypical polypoid adenomyoma. Simple polypectomy is usually curative. Atypical polypoid adenomyoma may recur following polypectomy." [NCIT:C3726] synonym: "adenomyoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "adenomyoma" EXACT [NCIT:C3726] synonym: "adenomyoma" EXACT [] {comment="preferred label from MONDO"} synonym: "adenomyoma (morphologic abnormality)" EXACT [DOID:2609] synonym: "adenomyoma, benign" EXACT [NCIT:C3726] xref: DOID:2609 {source="MONDO:equivalentTo", source="EFO:0007133"} xref: EFO:0007133 {source="MONDO:equivalentTo"} xref: ICDO:8932/0 {source="NCIT:C3726"} xref: MESH:D018194 {source="DOID:2609", source="MONDO:equivalentTo", source="EFO:0007133"} xref: MONDO:0005635 xref: NCIT:C3726 {source="DOID:2609", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C3726 {source="DOID:2609", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C0206622 {source="DOID:2609", source="NCIT:C3726", source="MONDO:equivalentTo"} is_a: MONDO:0000624 {source="NCIT:C3726"} ! benign female reproductive system neoplasm property_value: closeMatch http://identifiers.org/snomedct/40293003 property_value: exactMatch DOID:2609 property_value: exactMatch DOID:2609 property_value: exactMatch http://identifiers.org/mesh/D018194 property_value: exactMatch http://identifiers.org/mesh/D018194 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206622 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206622 property_value: exactMatch NCIT:C3726 property_value: exactMatch NCIT:C3726 property_value: excluded_subClassOf MONDO:0002928 {source="DOID:2609"} [Term] id: EFO:0007134 name: adenosarcoma def: "A low grade malignant neoplasm characterized by the presence of a benign epithelial component (tubular and cleft-like glands) and a low grade sarcomatous component that contains varying amounts of fibrous and smooth muscle tissues. In a minority of cases, the sarcomatous component contains heterologous elements including striated muscle, cartilage, and fat. It occurs in the uterine corpus, ovary, fallopian tube, cervix, and vagina. It may recur and in a minority of cases may metastasize to distant anatomic sites." [NCIT:C9474] synonym: "adenosarcoma" EXACT [NCIT:C9474] synonym: "adenosarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "adenosarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "adenosarcoma (morphologic abnormality)" EXACT [DOID:1974] synonym: "Mullerian adenosarcoma" EXACT [NCIT:C9474] synonym: "mullerian adenosarcoma" EXACT [DOID:1974, NCIT:C9474] synonym: "Müllerian adenosarcoma" EXACT [NCIT:C9474] xref: DOID:1974 {source="MONDO:equivalentTo", source="EFO:0007134"} xref: EFO:0007134 {source="MONDO:equivalentTo"} xref: ICDO:8933/3 {source="NCIT:C9474"} xref: MESH:D018195 {source="MONDO:equivalentTo", source="DOID:1974", source="EFO:0007134"} xref: MONDO:0005636 xref: NCIT:C9474 {source="MONDO:equivalentTo", source="DOID:1974", source="exact-label-match"} xref: NCIT:C9474 {source="MONDO:equivalentTo", source="DOID:1974", source="MONDO:exact-label-match"} xref: UMLS:C0001442 {source="NCIT:C9474", source="MONDO:equivalentTo", source="DOID:1974"} is_a: EFO:1000356 {source="DOID:1974/inferred", source="NCIT:C9474"} ! Malignant Mixed Neoplasm is_a: EFO:1001331 {source="NCIT:C9474"} ! Genital neoplasm, female property_value: closeMatch http://identifiers.org/snomedct/189804002 property_value: closeMatch http://identifiers.org/snomedct/31470003 property_value: exactMatch DOID:1974 property_value: exactMatch DOID:1974 property_value: exactMatch http://identifiers.org/mesh/D018195 property_value: exactMatch http://identifiers.org/mesh/D018195 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001442 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001442 property_value: exactMatch NCIT:C9474 property_value: exactMatch NCIT:C9474 [Term] id: EFO:0007135 name: adult-onset Still's disease def: "A rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash." [Orphanet:829] def: "An arthritis that is a rare from of inflammatory arthritis characterized by fevers, rash, and joint pain." [] subset: gard_rare {source="GARD:0000436"} subset: ordo_disease {source="Orphanet:829"} synonym: "adult onset Still's disease" EXACT [DOID:14256] synonym: "adult Still's disease" RELATED [GARD:0000436] synonym: "adult-onset Still disease" EXACT [DOID:14256] synonym: "adult-onset Still disease" EXACT [] {comment="preferred label from MONDO"} synonym: "adult-onset Still's disease" EXACT [MONDO:0005637] synonym: "AOSD" EXACT ABBREVIATION [Orphanet:829] synonym: "Still's disease adult onset" RELATED [GARD:0000436] synonym: "Still's Disease, Adult-Onset" EXACT [] synonym: "Wissler-Fanconi syndrome" EXACT [Orphanet:829] xref: DOID:14256 {source="MONDO:equivalentTo", source="EFO:0007135"} xref: ICD9:714.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10058493 {source="Orphanet:829/e", source="Orphanet:829"} xref: MedDRA:10064056 {source="Orphanet:829/e", source="Orphanet:829"} xref: MESH:D014924 {source="Orphanet:829/e", source="MONDO:relatedTo", source="Orphanet:829"} xref: MESH:D016706 {source="Orphanet:829/e", source="MONDO:equivalentTo", source="DOID:14256", source="Orphanet:829", source="EFO:0007135"} xref: MeSH:D016706 xref: MONDO:0019355 xref: Orphanet:829 {source="MONDO:equivalentTo", source="GARD:0000436"} xref: SCTID:239920006 {source="MONDO:equivalentTo", source="DOID:14256"} xref: SCTID:68190001 {source="MONDO:equivalentTo"} xref: UMLS:C0043195 {source="Orphanet:829/e", source="MONDO:relatedTo", source="Orphanet:829"} xref: UMLS:C0085253 {source="Orphanet:829/e", source="MONDO:equivalentTo", source="DOID:14256", source="Orphanet:829"} xref: UMLS:CN206037 {source="MONDO:equivalentTo"} is_a: EFO:0005856 {source="DOID:14256", source="EFO:0007135", source="MESH:D016706/inferred"} ! arthritis is_a: MONDO:0019751 {source="PMID:23827249"} ! autoinflammatory syndrome relationship: disease_has_feature MONDO:0002258 {source="MONDO:Wikidata"} ! pharyngitis relationship: disease_has_feature MONDO:0015540 {source="MONDO:Wikidata"} ! hemophagocytic syndrome property_value: closeMatch http://identifiers.org/meddra/10058493 property_value: closeMatch http://identifiers.org/meddra/10064056 property_value: exactMatch DOID:14256 property_value: exactMatch http://identifiers.org/mesh/D016706 property_value: exactMatch http://identifiers.org/snomedct/239920006 property_value: exactMatch http://identifiers.org/snomedct/68190001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085253 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206037 property_value: exactMatch Orphanet:829 property_value: excluded_subClassOf MONDO:0005554 {source="Orphanet:829"} property_value: excluded_subClassOf MONDO:0019724 {source="Orphanet:829"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/436/adult-onset-stills-disease xsd:anyURI {source="GARD:0000436"} [Term] id: EFO:0007136 name: agnosia def: "A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss." [] def: "A rare disorder characterized by the lack of ability to recognize individuals, objects, shapes, sounds, or smells. There is no loss of memory. It is caused by neurological damage in the brain, specifically in the occipital or parietal lobes." [NCIT:C84542] subset: gard_rare {source="GARD:0000008"} synonym: "Agnosia" EXACT [] synonym: "agnosia" EXACT [NCIT:C84542] synonym: "agnosia" EXACT [] {comment="preferred label from MONDO"} synonym: "Dyspraxia (finding)" EXACT [] synonym: "dyspraxia (finding)" RELATED [DOID:4090] synonym: "Dyspraxia syndrome" EXACT [] synonym: "dyspraxia syndrome" RELATED [DOID:4090] synonym: "Monomodal visual amnesia" NARROW [GARD:0000008] synonym: "primary visual agnosia" NARROW [GARD:0000008] synonym: "visual amnesia" NARROW [GARD:0000008] xref: DOID:4090 {source="EFO:0007136", source="MONDO:equivalentTo"} xref: ICD10CM:R48.1 {source="MONDO:equivalentTo", source="DOID:4090"} xref: ICD10CM:R48.2 {source="DOID:4090", source="MONDO:directSiblingOf"} xref: MedDRA:10013976 xref: MedDRA:10048663 xref: MESH:D000377 {source="EFO:0007136", source="MONDO:equivalentTo", source="DOID:4090"} xref: MeSH:D000377 xref: MESH:D001072 {source="DOID:4090", source="MONDO:directSiblingOf"} xref: MONDO:0005638 xref: NCIT:C84542 {source="MONDO:equivalentTo", source="DOID:4090"} xref: SCTID:68345001 {source="MONDO:equivalentTo", source="DOID:4090"} is_a: EFO:0000677 ! mental or behavioural disorder is_a: MONDO:0024417 {source="MESH:D000377", source="MONDO:Entailed", source="MONDO:Redundant"} ! perceptual disorders relationship: EFO:0000784 UBERON:0001017 ! has_disease_location central nervous system property_value: exactMatch DOID:4090 property_value: exactMatch http://identifiers.org/mesh/D000377 property_value: exactMatch http://identifiers.org/snomedct/68345001 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/R48.1 property_value: exactMatch NCIT:C84542 property_value: excluded_subClassOf MONDO:0002182 {source="DOID:4090"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8/agnosia xsd:anyURI {source="GARD:0000008"} [Term] id: EFO:0007137 name: AIDS related complex def: "A Human immunodeficiency virus infectious disease that results_in infection with mild symptoms, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom swollen lymph glands, has_symptom fever, has_symptom diarrhea, and has_symptom weight loss." [] def: "A prodromal phase of infection with the human immunodeficiency virus (HIV). Laboratory criteria separating aids-related complex (ARC) from aids include elevated or hyperactive B-cell humoral immune responses, compared to depressed or normal antibody reactivity in aids; follicular or mixed hyperplasia in arc lymph nodes, leading to lymphocyte degeneration and depletion more typical of aids; evolving succession of histopathological lesions such as localization of Kaposi's sarcoma, signaling the transition to the full-blown aids." [MESH:D000386] synonym: "acquired immune deficiency syndrome (& [ARC])" EXACT [] synonym: "AIDS related complex" EXACT [] {comment="preferred label from MONDO"} synonym: "AIDS-like syndrome" EXACT [] synonym: "AIDS-Related Complex" EXACT [] xref: DOID:1308 xref: MedDRA:10001513 xref: MESH:D000386 {source="EFO:0007137", source="MONDO:equivalentTo"} xref: MeSH:D000386 xref: MONDO:0005639 xref: UMLS:C0001857 {source="MONDO:equivalentTo"} is_a: EFO:0000764 {source="EFO:0007137", source="MESH:D000386"} ! HIV infection property_value: exactMatch http://identifiers.org/mesh/D000386 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001857 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007138 name: akinetic mutism def: "A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness." [] def: "A syndrome characterized by a silent and inert state without voluntary motor activity despite preserved sensorimotor pathways and vigilance. Bilateral frontal lobe dysfunction involving the anterior cingulate gyrus and related brain injuries are associated with this condition. This may result in impaired abilities to communicate and initiate motor activities. (From Adams et al., Principles of Neurology, 6th ed, p348; Fortschr Neurol Psychiatr 1995 Feb;63(2):59-67)" [MESH:D000405] synonym: "Akinetic Mutism" EXACT [] synonym: "akinetic mutism" EXACT [] {comment="preferred label from MONDO"} synonym: "Coma vigilans" EXACT [DOID:4267] synonym: "Coma vigilans (finding)" EXACT [DOID:4267] xref: DOID:4267 {source="EFO:0007138", source="MONDO:equivalentTo"} xref: MedDRA:10001542 xref: MESH:D000405 {source="DOID:4267", source="EFO:0007138", source="MONDO:equivalentTo"} xref: MeSH:D000405 xref: MONDO:0005640 xref: SCTID:53333005 {source="DOID:4267", source="MONDO:equivalentTo"} xref: UMLS:C0001889 {source="DOID:4267", source="MONDO:equivalentTo"} is_a: EFO:0005774 {source="DOID:4267", source="EFO:0007138", source="MESH:D000405"} ! brain disease property_value: exactMatch DOID:4267 property_value: exactMatch http://identifiers.org/mesh/D000405 property_value: exactMatch http://identifiers.org/snomedct/53333005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001889 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007139 name: aleutian mink disease def: "A slow progressive disease of mink caused by the aleutian mink disease virus. It is characterized by poor reproduction, weight loss, autoimmunity, hypergammaglobulinemia, increased susceptibility to bacterial infections, and death from renal failure. The disease occurs in all color types, but mink which are homozygous recessive for the Aleutian gene for light coat color are particularly susceptible." [MESH:D000453] def: "A viral infectious disease that results_in inflammatory destruction located_in blood vessels of minks and rarely in humans, which has_material_basis_in Aleutian mink disease virus. The infection has_symptom weight loss, has_symptom hepatomegaly, has_symptom enlarged spleen, and has_symptom anemia." [] synonym: "Aleutian disease" EXACT [DOID:2934] synonym: "Aleutian disease (disorder)" EXACT [] synonym: "Aleutian Mink Disease" EXACT [] synonym: "aleutian mink disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Aleutian mink disease virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Aleutian mink disease virus disease or disorder" EXACT [] synonym: "Aleutian mink disease virus infectious disease" EXACT [] xref: DOID:2934 {source="EFO:0007139", source="MONDO:equivalentTo"} xref: ICD9:079.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D000453 {source="EFO:0007139", source="MONDO:equivalentTo", source="DOID:2934"} xref: MeSH:D000453 xref: MONDO:0005641 xref: SCTID:62251004 {source="MONDO:equivalentTo", source="DOID:2934"} xref: UMLS:C0002016 {source="MONDO:equivalentTo", source="DOID:2934"} is_a: MONDO:0025371 ! Parvoviridae infectious disease is_a: MONDO:0100329 ! primary viral infectious disease property_value: exactMatch DOID:2934 property_value: exactMatch http://identifiers.org/mesh/D000453 property_value: exactMatch http://identifiers.org/snomedct/62251004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002016 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007140 name: allergic bronchopulmonary aspergillosis def: "Allergic bronchopulmonary aspergillosis (ABPA) is a rare immunologic pulmonary disorder caused by hypersensitivity to Aspergillus fumigatus, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates." [Orphanet:1164] def: "An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has_symptom cough, has_symptom wheezing and has_symptom fever." [] subset: gard_rare {source="GARD:0000602"} subset: ordo_disease {source="Orphanet:1164"} synonym: "ABPA" EXACT ABBREVIATION [Orphanet:1164] synonym: "allergic aspergillosis" EXACT [Orphanet:1164] synonym: "allergic bronchopulmonary aspergillosis" EXACT [] {comment="preferred label from MONDO"} synonym: "allergic bronchopulmonary aspergillosis, familial" RELATED [OMIM:103920] synonym: "allergic bronchopulmonary mycosis" RELATED [GARD:0000602] synonym: "Aspergillosis, Allergic Bronchopulmonary" EXACT [] synonym: "aspergillosis, allergic bronchopulmonary" RELATED [GARD:0000602] synonym: "Hinson-Pepys disease" EXACT [Orphanet:1164] synonym: "pulmonary aspergillus disease" EXACT [DOID:13166] xref: DOID:13166 {source="MONDO:equivalentTo", source="EFO:0007140"} xref: ICD10CM:B44.81 {source="MONDO:equivalentTo", source="DOID:13166"} xref: ICD10EXP:B44.1+ {source="Orphanet:1164", source="Orphanet:1164/ntbt"} xref: ICD10EXP:J99.8* {source="Orphanet:1164", source="Orphanet:1164/ntbt"} xref: ICD9:518.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13166"} xref: MedDRA:10001707 xref: MedDRA:10006474 {source="Orphanet:1164", source="Orphanet:1164/e"} xref: MESH:D001229 {source="Orphanet:1164", source="MONDO:equivalentTo", source="Orphanet:1164/e", source="EFO:0007140", source="DOID:13166"} xref: MeSH:D001229 xref: MONDO:0015243 xref: NCIT:C84547 {source="MONDO:equivalentTo", source="DOID:13166"} xref: OMIM:103920 {source="Orphanet:1164", source="Orphanet:1164/btnt", source="MONDO:equivalentTo", source="DOID:13166"} xref: Orphanet:1164 {source="MONDO:equivalentTo", source="OMIM:103920"} xref: SCTID:37981002 {source="MONDO:equivalentTo", source="DOID:13166"} xref: UMLS:C0004031 {source="Orphanet:1164", source="NCIT:C84547", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1164/e", source="DOID:13166"} is_a: EFO:0007157 {source="DOID:13166", source="EFO:0007140", source="ICD10CM:B44.81", source="ICD10CM:B44.81/inferred", source="MESH:D001229", source="MONDO:Redundant", source="NCIT:C84547"} ! aspergillosis is_a: MONDO:0000771 {source="MONDO:Redundant", source="Orphanet:1164"} ! allergic respiratory disease property_value: closeMatch http://identifiers.org/meddra/10006474 property_value: exactMatch DOID:13166 property_value: exactMatch http://identifiers.org/mesh/D001229 property_value: exactMatch http://identifiers.org/snomedct/37981002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004031 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B44.81 property_value: exactMatch https://omim.org/entry/103920 property_value: exactMatch NCIT:C84547 property_value: exactMatch Orphanet:1164 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/602/allergic-bronchopulmonary-aspergillosis xsd:anyURI {source="GARD:0000602"} [Term] id: EFO:0007141 name: allergic conjunctivitis def: "A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant." [] def: "Conjunctivitis due to hypersensitivity to various allergens." [MESH:D003233] synonym: "allergic conjunctivitis" EXACT [MONDO:ambiguous, NCIT:C34506] synonym: "allergic conjunctivitis (disease)" EXACT [] synonym: "allergic form of conjunctivitis (disease)" EXACT [MONDO:patterns/allergic_form_of_disease] synonym: "Atopic conjunctivitis" EXACT [NCIT:C34506] synonym: "atopic conjunctivitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Conjunctivitis, Allergic" EXACT [] xref: DOID:11204 {source="MONDO:equivalentTo", source="EFO:0007141"} xref: HP:0007879 {source="MONDO:otherHierarchy"} xref: ICD9:372.14 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10001709 xref: MeSH:D003233 xref: MONDO:0005642 xref: NCIT:C34506 {source="DOID:11204", source="MONDO:equivalentTo"} xref: SCTID:473460002 {source="DOID:11204", source="MONDO:equivalentTo"} xref: UMLS:C0009766 {source="DOID:11204", source="NCIT:C34506", source="MONDO:equivalentTo"} is_a: EFO:0005751 ! eye allergy is_a: MONDO:0002314 {source="DOID:11204"} ! chronic conjunctivitis property_value: exactMatch DOID:11204 property_value: exactMatch http://identifiers.org/snomedct/473460002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009766 property_value: exactMatch NCIT:C34506 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007142 name: Alphavirus infectious disease def: "A Togaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Alphavirus, which is transmitted_by mosquito bite." [] def: "Virus diseases caused by members of the alphavirus genus of the family togaviridae." [MESH:D018354] synonym: "Alphavirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Alphavirus disease or disorder" EXACT [] synonym: "Alphavirus Infections" EXACT [] synonym: "Alphavirus infectious disease" EXACT [] {comment="preferred label from MONDO"} xref: DOID:5029 xref: MESH:D018354 {source="MONDO:equivalentTo", source="EFO:0007142"} xref: MeSH:D018354 xref: MONDO:0005643 xref: UMLS:C0206752 {source="MONDO:equivalentTo"} is_a: EFO:0007513 ! Togaviridae infectious disease property_value: exactMatch http://identifiers.org/mesh/D018354 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206752 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007143 name: alveolar soft part sarcoma def: "An alveolar soft part sarcoma occurring in adults. The most common site of involvement is the extremity, particularly the deep soft tissues of the thigh." [NCIT:C7943] subset: ordo_disease {source="Orphanet:163699"} synonym: "adult alveolar soft Part sarcoma" EXACT [NCIT:C7943] synonym: "adult alveolar soft part sarcoma" EXACT [DOID:4239] synonym: "adult alveolar soft-Part sarcoma" EXACT [NCIT:C7943] synonym: "alveolar soft PART sarcoma" RELATED [MONDO:Lexical, OMIM:606243] synonym: "alveolar soft Part sarcoma" EXACT [DOID:4239, NCIT:C3750, NCIT:C7943] synonym: "alveolar soft part sarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "alveolar soft part sarcoma" EXACT [MONDO:ambiguous, NCIT:C3750] synonym: "alveolar soft part sarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "alveolar soft part sarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "alveolar soft tissue sarcoma" RELATED [Orphanet:163699] synonym: "alveolar soft-part sarcoma" EXACT [Orphanet:163699] synonym: "alveolar soft-tissue sarcoma" RELATED [Orphanet:163699] synonym: "ASPS" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C3750, OMIM:606243, Orphanet:163699] synonym: "childhood alveolar soft part sarcoma" NARROW [DOID:4239] synonym: "paediatric alveolar soft Part sarcoma" NARROW OMO:0003005 [] synonym: "pediatric alveolar soft Part sarcoma" NARROW [DOID:4239, NCIT:C8092] xref: DOID:4239 {source="MONDO:equivalentTo", source="EFO:0007143"} xref: EFO:0007143 {source="MONDO:equivalentTo"} xref: GARD:0005654 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: HP:0012218 {source="MONDO:otherHierarchy"} xref: ICD10:C49.9 {source="ORDO:163699/ntbt", source="Orphanet:163699"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9581/3 {source="NCIT:C3750"} xref: MedDRA:10001882 {source="ORDO:163699/e", source="Orphanet:163699"} xref: MedDRA:10001882 {source="Orphanet:163699/e", source="Orphanet:163699"} xref: MESH:D018234 {source="DOID:4239", source="MONDO:equivalentTo", source="ORDO:163699/e", source="Orphanet:163699", source="EFO:0007143"} xref: MESH:D018234 {source="Orphanet:163699/e", source="DOID:4239", source="MONDO:equivalentTo", source="Orphanet:163699", source="EFO:0007143"} xref: MONDO:0011655 xref: NCIT:C3750 {source="DOID:4239", source="MONDO:equivalentTo"} xref: NCIT:C7943 {source="DOID:4239", source="MONDO:equivalentTo"} xref: OMIM:606243 {source="Orphanet:163699/e", source="DOID:4239", source="MONDO:equivalentTo", source="Orphanet:163699"} xref: OMIM:606243 {source="DOID:4239", source="MONDO:equivalentTo", source="ORDO:163699/e", source="Orphanet:163699"} xref: ONCOTREE:ASPS {source="MONDO:equivalentTo"} xref: Orphanet:163699 {source="MONDO:equivalentTo", source="OMIM:606243"} xref: SCTID:404056007 {source="DOID:4239", source="MONDO:equivalentTo"} xref: UMLS:C0206657 {source="NCBI:mim2gene_medline", source="DOID:4239", source="MONDO:equivalentTo", source="NCIT:C3750", source="ORDO:163699/e", source="Orphanet:163699", source="OMIM:606243"} xref: UMLS:C0206657 {source="Orphanet:163699/e", source="DOID:4239", source="MONDO:equivalentTo", source="NCIT:C3750", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:163699", source="OMIM:606243"} xref: UMLS:C0279544 {source="DOID:4239", source="MONDO:equivalentTo", source="NCIT:C7943"} is_a: EFO:1001968 {source="NCIT:C3750", source="NCIT:C7943/inferred", source="Orphanet:163699"} ! soft tissue sarcoma property_value: closeMatch http://identifiers.org/meddra/10001882 property_value: closeMatch http://identifiers.org/snomedct/302839003 property_value: closeMatch http://identifiers.org/snomedct/88195001 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0279985 property_value: closeMatch NCIT:C8092 property_value: exactMatch DOID:4239 property_value: exactMatch DOID:4239 property_value: exactMatch http://identifiers.org/meddra/10001882 property_value: exactMatch http://identifiers.org/mesh/D018234 property_value: exactMatch http://identifiers.org/mesh/D018234 property_value: exactMatch http://identifiers.org/omim/606243 property_value: exactMatch http://identifiers.org/snomedct/404056007 property_value: exactMatch http://identifiers.org/snomedct/404056007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206657 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206657 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279544 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279544 property_value: exactMatch https://omim.org/entry/606243 property_value: exactMatch NCIT:C3750 property_value: exactMatch NCIT:C3750 property_value: exactMatch NCIT:C7943 property_value: exactMatch NCIT:C7943 property_value: exactMatch Orphanet:163699 property_value: excluded_subClassOf MONDO:0002847 {source="DOID:4239"} property_value: IAO:0000589 "alveolar soft part sarcoma (disease)" xsd:string [Term] id: EFO:0007144 name: amebiasis def: "A parasitic infectious disorder caused by amoebas. The parasite may cause colitis which is manifested with bloody diarrhea, abdominal pain, nausea and fever. In rare cases it may spread to the liver, brain and lungs." [NCIT:P378] def: "A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs." [] synonym: "Amebiasis" EXACT [] synonym: "amebiasis" EXACT [] {comment="preferred label from MONDO"} synonym: "amoebiasis" EXACT [DOID:9181] synonym: "chronic intestinal amebiasis" RELATED [DOID:9181] synonym: "entamoebiasis" EXACT [DOID:9181] xref: DOID:9181 {source="MONDO:equivalentTo", source="EFO:0007144"} xref: ICD10:A06 xref: ICD9:006 {source="DOID:9181"} xref: ICD9:006.9 {source="DOID:9181"} xref: MedDRA:10001916 xref: MedDRA:10001918 xref: MESH:D000562 {source="DOID:9181", source="MONDO:equivalentTo", source="EFO:0007144"} xref: MeSH:D000562 xref: MONDO:0005644 xref: NCIT:C84551 {source="DOID:9181", source="MONDO:equivalentTo"} xref: UMLS:C0002438 {source="DOID:9181", source="MONDO:equivalentTo", source="NCIT:C84551"} is_a: MONDO:0002428 {source="DOID:9181", source="MESH:D000562"} ! protozoa infectious disease property_value: exactMatch DOID:9181 property_value: exactMatch http://identifiers.org/mesh/D000562 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002438 property_value: exactMatch NCIT:C84551 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007145 name: ancylostomiasis def: "A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma caninum. The larvae cause lesions on the skin at the site of penetration. The infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition." [] def: "Infection by hookworms of the genus Ancylostoma." [NCIT:P378] subset: ordo_disease {source="Orphanet:78"} synonym: "Ancylostoma caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Ancylostoma disease or disorder" EXACT [] synonym: "Ancylostoma duodenale infection" RELATED [GARD:0009742] synonym: "Ancylostoma infectious disease" EXACT [] synonym: "Ancylostomiasis" EXACT [] synonym: "ancylostomiasis" EXACT [] {comment="preferred label from MONDO"} synonym: "Ancylostomiasis (disorder)" EXACT [] synonym: "Ancylostomosis" EXACT [] synonym: "hookworm infection" BROAD [Orphanet:78] xref: DOID:12841 {source="MONDO:equivalentTo", source="EFO:0007145"} xref: ICD10CM:B76.1 {source="Orphanet:78", source="Orphanet:78/btnt", source="MONDO:directSiblingOf"} xref: ICD9:126.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:126.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10002255 {source="Orphanet:78", source="Orphanet:78/e"} xref: MedDRA:10020376 {source="Orphanet:78", source="Orphanet:78/e"} xref: MESH:D000724 {source="Orphanet:78", source="MONDO:equivalentTo", source="Orphanet:78/e", source="MONDO:directSiblingOf", source="DOID:12841", source="EFO:0007145"} xref: MeSH:D000724 xref: MONDO:0005645 xref: NCIT:C35805 {source="MONDO:equivalentTo", source="MONDO:directSiblingOf", source="DOID:12841"} xref: Orphanet:78 {source="MONDO:equivalentTo"} xref: SCTID:63479002 {source="MONDO:equivalentTo", source="DOID:12841"} xref: UMLS:C0002831 {source="NCIT:C35805", source="Orphanet:78", source="MONDO:equivalentTo", source="Orphanet:78/e", source="MONDO:directSiblingOf", source="DOID:12841"} is_a: EFO:0007500 ! Strongylida infectious disease property_value: closeMatch http://identifiers.org/meddra/10002255 property_value: closeMatch http://identifiers.org/meddra/10020376 property_value: exactMatch DOID:12841 property_value: exactMatch http://identifiers.org/mesh/D000724 property_value: exactMatch http://identifiers.org/snomedct/63479002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002831 property_value: exactMatch NCIT:C35805 property_value: exactMatch Orphanet:78 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007146 name: anisakiasis def: "A parasitic helminthiasis infectious disease that results_in infection located_in intestinal mucosa with larvae of the nematodes transmitted_by ingestion of raw or poorly cooked saltwater fish, has_material_basis_in Anisakis simplex or has_material_basis_in Pseudoterranova decipiens and has_symptom abdominal pain, has_symptom nausea and vomiting. Invasive anisakiasis results in the infection of omentum, pancreas, liver, and lung." [] def: "Infection with roundworms of the genus anisakis. Human infection results from the consumption of fish harboring roundworm larvae. The worms may cause acute nausea; vomiting; or penetrate into the wall of the digestive tract where they give rise to eosinophilic granuloma in the stomach; intestines; or the omentum." [MESH:D017129] subset: gard_rare {source="GARD:0000693"} subset: ordo_disease {source="Orphanet:1070"} synonym: "Anisakiases" RELATED [MESH:D017129] synonym: "Anisakiasis" EXACT [] synonym: "anisakiasis" EXACT [] {comment="preferred label from MONDO"} synonym: "Anisakiasis (disorder)" EXACT [] synonym: "Anisakis infection" RELATED [GARD:0000693] synonym: "Anisakis simplex infection" EXACT [MONDO:patterns/infectious_disease_by_agent] synonym: "Infection by Anisakis larva" EXACT [] synonym: "infection by Anisakis larva" EXACT [DOID:7033] synonym: "Infection by Anisakis larva (disorder) [Ambiguous]" EXACT [] synonym: "infections, Anisakis simplex" RELATED [MONDO:patterns/infectious_disease_by_agent] synonym: "Pseudoterranova infection" RELATED [GARD:0000693] xref: DOID:7033 {source="MONDO:equivalentTo", source="EFO:0007146"} xref: ICD10CM:B81.0 {source="Orphanet:1070/e", source="MONDO:equivalentTo", source="Orphanet:1070", source="DOID:7033"} xref: ICD9:127.1 {source="DOID:7033"} xref: MedDRA:10002533 {source="Orphanet:1070/e", source="Orphanet:1070"} xref: MESH:D017129 {source="Orphanet:1070/e", source="MONDO:equivalentTo", source="Orphanet:1070", source="DOID:7033", source="EFO:0007146"} xref: MeSH:D017129 xref: MONDO:0015200 xref: NCIT:C128393 {source="MONDO:equivalentTo"} xref: Orphanet:1070 {source="MONDO:equivalentTo"} xref: SCTID:442652006 {source="MONDO:equivalentTo"} xref: UMLS:C0162576 {source="Orphanet:1070/e", source="MONDO:equivalentTo", source="Orphanet:1070", source="DOID:7033"} is_a: EFO:0007156 ! Ascaridida infectious disease is_a: MONDO:0024271 ! intestinal helminthiasis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare property_value: closeMatch http://identifiers.org/meddra/10002533 property_value: exactMatch DOID:7033 property_value: exactMatch http://identifiers.org/mesh/D017129 property_value: exactMatch http://identifiers.org/snomedct/442652006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162576 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B81.0 property_value: exactMatch NCIT:C128393 property_value: exactMatch Orphanet:1070 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/693/anisakiasis xsd:anyURI {source="GARD:0000693"} [Term] id: EFO:0007147 name: anogenital venereal wart def: "A sexually transmitted papillary growth caused by the human papillomavirus. It usually arises in the skin and mucous membranes of the perianal region and external genitalia." [NCIT:P378] def: "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, and throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts." [] synonym: "anogenital Human papilloma Virus infection" EXACT [NCIT:C4820] synonym: "Anogenital Human papilloma Virus Infectious Disease" EXACT [] synonym: "anogenital Human papilloma Virus infectious disease" EXACT [DOID:11168, NCIT:C4820] synonym: "anogenital Human Papillomavirus infection" EXACT [NCIT:C4820] synonym: "anogenital human papillomavirus infection" EXACT [] {comment="preferred label from MONDO"} synonym: "anogenital venereal wart" EXACT [DOID:11168] synonym: "anogenital Warts" EXACT [DOID:11168] synonym: "Anogenital warts (disorder)" EXACT [] synonym: "condyloma acuminatum" RELATED [DOID:11168, ICD9CM:078.11] synonym: "Condylomata Acuminata" EXACT [] synonym: "genital wart virus infectious disease" EXACT [DOID:11168] synonym: "Genital warts" EXACT [] synonym: "genital Warts" EXACT [DOID:11168] synonym: "venereal wart" EXACT [DOID:11168] xref: DOID:11168 {source="EFO:0007147", source="MONDO:equivalentTo"} xref: ICD9:078.11 {source="DOID:11168"} xref: MESH:D003218 {source="EFO:0007147", source="MONDO:equivalentTo", source="DOID:11168"} xref: MeSH:D003218 xref: MONDO:0005647 xref: NCIT:C4820 {source="MONDO:equivalentTo", source="DOID:11168"} xref: SCTID:266113007 {source="MONDO:equivalentTo", source="DOID:11168"} is_a: EFO:0001668 {source="NCIT:C4820"} ! human papilloma virus infection is_a: MONDO:0021682 {source="MESH:D003218"} ! viral sexually transmitted disease property_value: exactMatch DOID:11168 property_value: exactMatch http://identifiers.org/mesh/D003218 property_value: exactMatch http://identifiers.org/snomedct/266113007 property_value: exactMatch NCIT:C4820 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007148 name: aortic valve insufficiency def: "An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle." [] def: "Dysfunction of the aortic valve characterized by incomplete valve closure." [NCIT:P378] synonym: "aortic incompetence" EXACT [DOID:57] synonym: "aortic insufficiency" EXACT [DOID:57] synonym: "aortic regurgitation" EXACT [DOID:57] synonym: "Aortic Valve Insufficiency" EXACT [] synonym: "aortic valve insufficiency" EXACT [] {comment="preferred label from MONDO"} synonym: "Corrigan's disease" RELATED [DOID:57] synonym: "Rheumatic aortic insufficiency" EXACT [] synonym: "rheumatic aortic insufficiency" EXACT [DOID:57, ICD9CM:395.1] synonym: "Rheumatic aortic regurgitation" EXACT [] synonym: "rheumatic aortic regurgitation" EXACT [DOID:57] synonym: "rheumatic aortic valve insufficiency" EXACT [DOID:57] synonym: "Rheumatic aortic valve regurgitation" EXACT [] synonym: "rheumatic aortic valve regurgitation" EXACT [DOID:57] xref: DOID:57 {source="EFO:0007148", source="MONDO:equivalentTo"} xref: ICD10CM:I06.1 {source="DOID:57", source="MONDO:equivalentTo"} xref: ICD9:395.1 {source="DOID:57", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:396.3 {source="DOID:57"} xref: MedDRA:10052839 xref: MESH:D001022 {source="EFO:0007148", source="DOID:57", source="MONDO:equivalentTo"} xref: MeSH:D001022 xref: MONDO:0005648 xref: NCIT:C51223 {source="DOID:57", source="MONDO:equivalentTo"} xref: SCTID:78031003 {source="DOID:57", source="MONDO:equivalentTo"} xref: UMLS:C0003504 {source="DOID:57", source="MONDO:equivalentTo", source="NCIT:C51223"} xref: UMLS:C0155568 {source="DOID:57", source="MONDO:equivalentTo"} is_a: EFO:0009531 {source="DOID:57", source="NCIT:C51223"} ! aortic valve disease is_a: MONDO:0020674 ! vascular insufficiency disorder property_value: exactMatch DOID:57 property_value: exactMatch http://identifiers.org/mesh/D001022 property_value: exactMatch http://identifiers.org/snomedct/78031003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003504 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155568 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/I06.1 property_value: exactMatch NCIT:C51223 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007149 name: appendicitis def: "A gastrointestinal system infectious disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever." [] def: "Acute inflammation of the vermiform appendix." [NCIT:P378] synonym: "acute appendicitis" EXACT [] synonym: "acute appendicitis" NARROW [DOID:8337] synonym: "acute appendicitis with generalised peritonitis" NARROW OMO:0003005 [] synonym: "acute appendicitis with generalized peritonitis" EXACT [] synonym: "acute appendicitis with generalized peritonitis" NARROW [DOID:8337] synonym: "acute appendicitis with generalized peritonitis (disorder)" EXACT [] synonym: "acute appendicitis with peritoneal abscess" EXACT [] synonym: "acute appendicitis with peritoneal abscess" NARROW [DOID:8337] synonym: "acute appendicitis with peritoneal abscess (disorder)" EXACT [] synonym: "Appendicitis" EXACT [] synonym: "appendicitis" EXACT [] {comment="preferred label from MONDO"} synonym: "inflammation of vermiform appendix" EXACT [] synonym: "vermiform appendix inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:8337 {source="EFO:0007149", source="MONDO:equivalentTo"} xref: ICD10:K35 xref: ICD10:K37 xref: ICD9:540-543.99 {source="DOID:8337"} xref: ICD9:541 {source="DOID:8337"} xref: MedDRA:10003011 xref: MedDRA:10003014 xref: MESH:D001064 {source="DOID:8337", source="EFO:0007149", source="MONDO:equivalentTo"} xref: MeSH:D001064 xref: MONDO:0005649 xref: NCIT:C35145 {source="DOID:8337", source="MONDO:equivalentTo"} xref: SCTID:74400008 {source="DOID:8337", source="MONDO:equivalentTo"} xref: UMLS:C0003615 {source="DOID:8337", source="MONDO:equivalentTo"} is_a: EFO:0003767 ! inflammatory bowel disease is_a: EFO:0009542 ! disorder of appendix is_a: EFO:1001460 ! diverticulitis is_a: MONDO:0002031 {source="DOID:8337", source="MESH:D001064", source="MONDO:Entailed", source="MONDO:Redundant"} ! cecal disorder property_value: exactMatch DOID:8337 property_value: exactMatch http://identifiers.org/mesh/D001064 property_value: exactMatch http://identifiers.org/snomedct/74400008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003615 property_value: exactMatch NCIT:C35145 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007150 name: Arenaviridae infectious disease def: "A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Arenaviridae viruses." [] def: "Virus diseases caused by the arenaviridae." [MESH:D001117] synonym: "Arenaviridae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Arenaviridae disease or disorder" EXACT [] synonym: "Arenaviridae infection" RELATED [MESH:D001117] synonym: "Arenaviridae Infections" EXACT [] synonym: "Arenaviridae infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "arenavirus infection" RELATED [MESH:D001117] synonym: "arenavirus infections" RELATED [MESH:D001117] synonym: "arenavirus infectious disease" EXACT [MONDO:0024385] synonym: "disease caused by arenavirus" RELATED [] synonym: "disease due to arenavirus" EXACT [] synonym: "infection, Arenaviridae" RELATED [MESH:D001117] synonym: "infection, arenavirus" RELATED [MESH:D001117] synonym: "infections, Arenaviridae" RELATED [MESH:D001117] synonym: "infections, arenavirus" RELATED [MESH:D001117] xref: DOID:3944 {source="MONDO:equivalentTo", source="EFO:0007150", source="MONDO:obsolete"} xref: ICD9:078.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D001117 {source="MONDO:equivalentTo", source="EFO:0007150"} xref: MeSH:D001117 xref: MONDO:0005650 xref: SCTID:3303004 {source="MONDO:equivalentTo"} is_a: MONDO:0100329 ! primary viral infectious disease property_value: exactMatch DOID:3944 property_value: exactMatch http://identifiers.org/mesh/D001117 property_value: exactMatch http://identifiers.org/snomedct/3303004 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007151 name: Arenavirus hemorrhagic fever alt_id: MONDO:0024384 def: "A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus." [EFO:0007151] synonym: "american hemorrhagic fever" EXACT [] synonym: "arenaviral hemorrhagic fever" EXACT [] synonym: "arenavirus hemorrhagic fever" EXACT [] {comment="preferred label from MONDO"} synonym: "Hemorrhagic Fever, American" EXACT [] xref: DOID:9535 xref: ICD9:078.7 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MeSH:D006478 xref: MONDO:0005651 xref: SCTID:73730005 {source="MONDO:equivalentTo"} xref: UMLS:C0153112 {source="MONDO:equivalentTo"} is_a: EFO:0007150 ! Arenaviridae infectious disease is_a: MONDO:0018087 {source="MONDO:Redundant"} ! viral hemorrhagic fever property_value: exactMatch http://identifiers.org/snomedct/73730005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153112 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007152 name: Arterivirus infectious disease def: "A Arteriviridae infectious disease that results_in infection in animals, has_material_basis_in Arterivirus." [] def: "Infections caused by viruses of the family arteriviridae." [MESH:D018174] synonym: "Arterivirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Arterivirus disease or disorder" EXACT [] synonym: "Arterivirus Infections" EXACT [] synonym: "Arterivirus infectious disease" EXACT [] {comment="preferred label from MONDO"} xref: DOID:3718 xref: MESH:D018174 {source="MONDO:equivalentTo", source="EFO:0007152"} xref: MeSH:D018174 xref: MONDO:0005652 xref: UMLS:C0206604 {source="MONDO:equivalentTo"} is_a: EFO:0007396 ! Nidovirales infectious disease property_value: exactMatch http://identifiers.org/mesh/D018174 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206604 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007153 name: asbestosis def: "A lung disorder caused by inhalation of asbestos fibers. It results in fibrosis of the lung parenchyma. Signs and symptoms include coughing, shortness of breath and chest pain." [NCIT:C84573] def: "A pneumoconiosis caused by inhalation and retention of asbestos fibers." [] subset: gard_rare subset: ordo_disease {source="Orphanet:2302"} synonym: "asbestos dust pneumoconiosis" EXACT [MONDO:patterns/environmental_stimulus] synonym: "asbestos intoxication" RELATED [Orphanet:2302] synonym: "asbestos intoxination" EXACT [Orphanet:2302] synonym: "asbestos pneumoconiosis" EXACT [MONDO:cjm] synonym: "Asbestosis" EXACT [] synonym: "asbestosis" EXACT [] {comment="preferred label from MONDO"} synonym: "asbestosis" EXACT [MONDO:0005653] synonym: "Asbestosis NOS (disorder)" EXACT [] synonym: "idiopathic interstitial pneumonitis - from asbestos exposure" RELATED [GARD:0005852] synonym: "pneumoconiosis from asbestos dust" EXACT [] synonym: "pulmonary fibrosis - from asbestos exposure" RELATED [GARD:0005852] xref: CSP:2596-4484 {source="DOID:10320"} xref: DOID:10320 {source="MONDO:equivalentTo", source="EFO:0007153"} xref: ICD9:501 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10320"} xref: MedDRA:10003441 xref: MESH:D001195 {source="MONDO:equivalentTo", source="EFO:0007153", source="DOID:10320"} xref: MeSH:D001195 xref: MONDO:0016466 xref: NCIT:C84573 {source="MONDO:equivalentTo", source="NCIT:C84573", source="DOID:10320"} xref: Orphanet:2302 {source="MONDO:equivalentTo"} xref: SCTID:22607003 {source="MONDO:equivalentTo", source="DOID:10320"} xref: UMLS:C0003949 {source="Orphanet:2302", source="MONDO:equivalentTo", source="NCIT:C84573", source="DOID:10320"} is_a: MONDO:0015926 {source="DOID:10320", source="EFO:0007153", source="MESH:D001195", source="MONDO:Redundant", source="NCIT:C84573", source="Orphanet:2302"} ! pneumoconiosis property_value: exactMatch DOID:10320 property_value: exactMatch http://identifiers.org/mesh/D001195 property_value: exactMatch http://identifiers.org/snomedct/22607003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003949 property_value: exactMatch NCIT:C84573 property_value: exactMatch Orphanet:2302 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007154 name: ascariasis def: "A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation." [] def: "An infection that is caused by the roundworm Ascaris lumbricoides, many cases of which remain asymptomatic. During the transient larval migratory phase, shortness of breath, fever, and eosinophilia can occur. Depending on the intestinal worm burden, a spectrum of gastrointestinal tract symptoms can occur." [NCIT:C128392] synonym: "Ascariasis" EXACT [] synonym: "ascariasis" EXACT [] {comment="preferred label from MONDO"} synonym: "Ascariasis - roundworm" EXACT [] synonym: "ascariasis - roundworm" EXACT [DOID:456] synonym: "Ascaris lumbricoides caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Ascaris lumbricoides disease or disorder" EXACT [] synonym: "Ascaris lumbricoides infection" RELATED [DOID:456] synonym: "Ascaris lumbricoides infectious disease" EXACT [] xref: CSP:1248-7284 {source="DOID:456"} xref: DOID:456 {source="MONDO:equivalentTo", source="EFO:0007154"} xref: ICD10:B77 xref: ICD10CM:B77 {source="DOID:456", source="MONDO:equivalentTo"} xref: ICD9:127.0 {source="DOID:456", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10003442 xref: MESH:D001196 {source="DOID:456", source="MONDO:equivalentTo", source="EFO:0007154"} xref: MeSH:D001196 xref: MONDO:0005654 xref: NCIT:C128392 {source="MONDO:equivalentTo"} xref: SCTID:2435008 {source="DOID:456", source="MONDO:equivalentTo"} xref: UMLS:C0003950 {source="DOID:456", source="MONDO:equivalentTo", source="NCIT:C128392"} is_a: EFO:0007156 ! Ascaridida infectious disease is_a: EFO:0010282 ! gastrointestinal disease property_value: exactMatch DOID:456 property_value: exactMatch http://identifiers.org/mesh/D001196 property_value: exactMatch http://identifiers.org/snomedct/2435008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003950 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B77 property_value: exactMatch NCIT:C128392 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007155 name: ascaridiasis def: "A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia." [] def: "Infection with nematodes of the genus ascaridia. This condition usually occurs in fowl, often manifesting diarrhea." [MESH:D001198] synonym: "Ascaridia caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Ascaridia disease or disorder" EXACT [] synonym: "Ascaridia infectious disease" EXACT [] synonym: "Ascaridiasis" EXACT [] synonym: "ascaridiasis" EXACT [] {comment="preferred label from MONDO"} synonym: "ascaridiosis" RELATED [] synonym: "infection by Ascaridia" EXACT [] synonym: "infection caused by Ascaridia" RELATED [] xref: DOID:3108 {source="MONDO:equivalentTo", source="EFO:0007155"} xref: ICD10CM:B77 {source="DOID:3108", source="MONDO:directSiblingOf"} xref: MESH:D001198 {source="MONDO:equivalentTo", source="DOID:3108", source="EFO:0007155"} xref: MeSH:D001198 xref: MONDO:0005655 xref: SCTID:2435008 {source="DOID:3108", source="MONDO:directSiblingOf"} xref: SCTID:76160002 {source="MONDO:equivalentTo", source="DOID:3108"} xref: UMLS:C0003952 {source="MONDO:equivalentTo", source="DOID:3108"} is_a: EFO:0007156 ! Ascaridida infectious disease is_a: EFO:0010282 ! gastrointestinal disease property_value: exactMatch DOID:3108 property_value: exactMatch http://identifiers.org/mesh/D001198 property_value: exactMatch http://identifiers.org/snomedct/76160002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003952 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007156 name: Ascaridida infectious disease def: "A Chromadorea infectious disease that involves infection of humans and domestic animals by parasitic roundworms with three lips on the anteriour end." [] def: "Infections with nematodes of the order ascaridida." [MESH:D017191] synonym: "Ascaridida caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Ascaridida disease or disorder" EXACT [] synonym: "Ascaridida infection" RELATED [MESH:D017191] synonym: "Ascaridida Infections" EXACT [] synonym: "Ascaridida infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "infection, Ascaridida" RELATED [MESH:D017191] synonym: "infections, Ascaridida" RELATED [MESH:D017191] xref: DOID:457 xref: MESH:D017191 {source="MONDO:equivalentTo", source="EFO:0007156"} xref: MeSH:D017191 xref: MONDO:0005656 is_a: EFO:0007468 ! Rhabditida infectious disease property_value: exactMatch http://identifiers.org/mesh/D017191 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007157 name: aspergillosis def: "An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney,heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system." [] def: "Aspergillosis is an infection, growth, or allergic response caused by the Aspergillus fungus. There are several different kinds of aspergillosis. One kind is allergic bronchopulmonary aspergillosis (also called ABPA), a condition where the fungus causes allergic respiratory symptoms similar to asthma, such as wheezing and coughing, but does not actually invade and destroy tissue. Another kind of aspergillosis is invasive aspergillosis. This infection usually affects people with weakened immune systems due to cancer, AIDS, leukemia, organ transplantation, chemotherapy, or other conditions or events that reduce the number of normal white blood cells. In this condition, the fungus invades and damages tissues in the body. Invasive aspergillosis most commonly affects the lungs, but can also cause infection in many other organs and can spread throughout the body (commonly affecting the kidneys and brain). Aspergilloma, a growth (fungus ball) that develops in an area of previous lung disease such as tuberculosis or lung abscess, is a third kind of aspergillosis. This type of aspergillosis is composed of a tangled mass of fungus fibers, blood clots, and white blood cells. The fungus ball gradually enlarges, destroying lung tissue in the process, but usually does not spread to other areas." [https://rarediseases.info.nih.gov/diseases/5856/aspergillosis] subset: gard_rare {source="GARD:0005856"} subset: ordo_disease {source="Orphanet:1163"} synonym: "Aspergillosis" EXACT [] synonym: "aspergillosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Infection due to Aspergillus" EXACT [] synonym: "infection due to Aspergillus" EXACT [DOID:13564] xref: CSP:1988-4002 {source="DOID:13564"} xref: DOID:13564 {source="MONDO:equivalentTo", source="EFO:0007157"} xref: ICD10:B44 xref: ICD10CM:B44 {source="MONDO:equivalentTo", source="DOID:13564"} xref: ICD9:117.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13564"} xref: MedDRA:10003488 {source="Orphanet:1163/e", source="Orphanet:1163"} xref: MESH:D001228 {source="Orphanet:1163/e", source="MONDO:equivalentTo", source="DOID:13564", source="EFO:0007157", source="Orphanet:1163"} xref: MeSH:D001228 xref: MONDO:0005657 xref: NCIT:C2886 {source="MONDO:equivalentTo", source="DOID:13564"} xref: Orphanet:1163 {source="MONDO:equivalentTo"} xref: SCTID:65553006 {source="MONDO:equivalentTo", source="DOID:13564"} xref: UMLS:C0004030 {source="Orphanet:1163/e", source="MONDO:equivalentTo", source="DOID:13564", source="NCIT:C2886", source="Orphanet:1163"} is_a: MONDO:0002312 {source="DOID:13564", source="MONDO:Redundant"} ! opportunistic mycosis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015578"} ! rare property_value: closeMatch http://identifiers.org/meddra/10003488 property_value: exactMatch DOID:13564 property_value: exactMatch http://identifiers.org/mesh/D001228 property_value: exactMatch http://identifiers.org/snomedct/65553006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004030 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B44 property_value: exactMatch NCIT:C2886 property_value: exactMatch Orphanet:1163 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5856/aspergillosis xsd:anyURI {source="GARD:0005856"} [Term] id: EFO:0007158 name: Astroviridae infectious disease def: "A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Astroviridae viruses." [] def: "Infections with astrovirus, causing gastroenteritis in human infants, calves, lambs, and piglets." [MESH:D019350] synonym: "Astroviridae Infections" EXACT [] synonym: "Astroviridae infectious disease" EXACT [] {comment="preferred label from MONDO"} xref: DOID:4412 xref: MESH:D019350 {source="EFO:0007158", source="MONDO:equivalentTo"} xref: MeSH:D019350 xref: MONDO:0005658 xref: UMLS:C0376550 {source="MONDO:equivalentTo"} is_a: MONDO:0100329 ! primary viral infectious disease property_value: exactMatch http://identifiers.org/mesh/D019350 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0376550 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007159 name: atrophic rhinitis def: "A chronic inflammation in which the nasal mucosa gradually changes from a functional to a non-functional lining without mucociliary clearance. It is often accompanied by degradation of the bony turbinates, and the foul-smelling mucus which forms a greenish crust (ozena)." [MESH:D012222] def: "A rhinitis which involves inflammation of the nose characterised by atrophy of nasal mucosa including the glands, turbinate bones, and the nerve elements supplying the nose that is caused by heredity factors, endocrine imbalance, nutritional deficiency, bacterial infection and autoimmune issues." [] synonym: "atrophic rhinitis" EXACT [] {comment="preferred label from MONDO"} synonym: "atrophic rhinitis (disorder)" EXACT [] synonym: "dry rhinitis" EXACT [DOID:4731] synonym: "Ozaena" EXACT [DOID:4731] synonym: "ozena" EXACT [DOID:4731] synonym: "rhinitis sicca" RELATED [DOID:4731] synonym: "Rhinitis, Atrophic" EXACT [] synonym: "Rhinitis, atrophic" EXACT [] synonym: "rhinitis, atrophic" EXACT [DOID:4731] xref: DOID:4731 {source="EFO:0007159", source="MONDO:equivalentTo"} xref: MedDRA:10003689 xref: MESH:D012222 {source="EFO:0007159", source="DOID:4731", source="MONDO:equivalentTo"} xref: MeSH:D012222 xref: MONDO:0005659 xref: SCTID:69646003 {source="MONDO:equivalentTo"} xref: UMLS:C0030105 {source="MONDO:equivalentTo"} xref: UMLS:C0035459 {source="DOID:4731", source="MONDO:equivalentTo"} is_a: EFO:0008521 {source="DOID:4731", source="MESH:D012222"} ! rhinitis property_value: exactMatch DOID:4731 property_value: exactMatch http://identifiers.org/mesh/D012222 property_value: exactMatch http://identifiers.org/snomedct/69646003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030105 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035459 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007160 name: autoimmune thrombocytopenic purpura def: "A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies." [] def: "An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin." [NCIT:P378] subset: ordo_disease {source="Orphanet:3002"} synonym: "AITP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:188030] synonym: "Autoimmune thrombocytopenic purpura" EXACT [] synonym: "autoimmune thrombocytopenic purpura" EXACT [] {comment="preferred label from MONDO"} synonym: "autoimmune thrombocytopenic purpura" EXACT [DOID:8924] synonym: "ideopath thrombocytopenic pur" RELATED [DOID:8924] synonym: "idiopathic purpura" RELATED [DOID:8924] synonym: "idiopathic thrombocytopenia" EXACT [NCIT:C3446] synonym: "idiopathic thrombocytopenia purpura" EXACT [NCIT:C3446] synonym: "idiopathic thrombocytopenic purpura" EXACT [DOID:8924, OMIM:188030] synonym: "immune thrombocytopenia" EXACT [Orphanet:3002] synonym: "immune thrombocytopenic purpura" RELATED [OMIM:188030] synonym: "Immune thrombocytopenic purpura (disorder)" EXACT [] synonym: "ITP" EXACT ABBREVIATION [Orphanet:3002] synonym: "primary thrombocytopenic purpura" EXACT [DOID:8924] synonym: "Purpura, Thrombocytopenic, Idiopathic" EXACT [] synonym: "thrombocytopenic purpura autoimmune" RELATED [GARD:0005194] synonym: "thrombocytopenic purpura, autoimmune" EXACT [MONDO:Lexical, OMIM:188030, Orphanet:3002] synonym: "Werlhof's disease" RELATED [DOID:8924] xref: DOID:8924 {source="EFO:0007160", source="MONDO:equivalentTo"} xref: ICD9:287.31 {source="DOID:8924"} xref: MedDRA:10021245 {source="Orphanet:3002", source="Orphanet:3002/e"} xref: MedDRA:10083842 xref: MeSH:D016553 xref: MONDO:0008558 xref: NCIT:C3446 {source="MONDO:equivalentTo", source="DOID:8924"} xref: OMIM:188030 {source="Orphanet:3002", source="MONDO:equivalentTo", source="Orphanet:3002/e", source="DOID:8924"} xref: Orphanet:3002 {source="OMIM:188030", source="MONDO:equivalentTo"} xref: SCTID:2897005 is_a: EFO:0005140 ! autoimmune disease is_a: MONDO:0004680 {source="DOID:8924"} ! primary thrombocytopenia is_a: MONDO:0019098 {source="MONDO:Redundant", source="Orphanet:3002"} ! autoimmune thrombocytopenia is_a: MONDO:0043768 {source="NCIT:C3446"} ! thrombocytopenic purpura relationship: EFO:0000784 CL:0000233 ! has_disease_location platelet property_value: closeMatch http://identifiers.org/meddra/10021245 property_value: exactMatch DOID:8924 property_value: exactMatch https://omim.org/entry/188030 property_value: exactMatch NCIT:C3446 property_value: exactMatch Orphanet:3002 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007161 name: Avulavirus infectious disease def: "A Paramyxoviridae infectious disease that results_in infection in birds and rarely humans, has_material_basis_in Avulavirus, which is transmitted_by direct contact with droppings and secretions from the nose, mouth, and eyes." [] def: "Infections with viruses of the genus avulavirus, family paramyxoviridae. This includes newcastle disease and other infections of domestic fowl." [MESH:D045463] synonym: "Avulavirus Infections" EXACT [] synonym: "Avulavirus infectious disease" EXACT [] {comment="preferred label from MONDO"} xref: DOID:2930 xref: MESH:D045463 {source="MONDO:equivalentTo", source="EFO:0007161"} xref: MeSH:D045463 xref: MONDO:0005660 xref: UMLS:C1258034 {source="MONDO:equivalentTo"} is_a: EFO:0007419 ! Paramyxoviridae infectious disease property_value: exactMatch http://identifiers.org/mesh/D045463 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1258034 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007162 name: babesiosis def: "A parasitic protozoa infectious disease that has_symptommild fevers and has_symptom anemia described as malaria-like symptoms caused by a protozoan of genus Babesia, which reproduce in red blood cells and cause hemolytic anemia. They are transmitted by Ixodid ticks or by blood transfusion. Babesiosis is a zoonotic disease." [] def: "Babesiosis refers to a condition caused by microscopic parasites that infect the red blood cells. Many people who are infected with Babesia parasites do not experience any symptoms of the condition. When present, signs and symptoms may include flu-like symptoms such as fever, chills, headache, body aches, nausea and fatigue. In severe cases, babesiosis can be associated with hemolytic anemia. Babesia parasites are primarily spread by infected ticks. Treatment is generally only required in people who develop symptoms of the condition. When necessary, affected people are often prescribed a combination of antimicrobial medications along with supportive care to manage symptoms." [https://rarediseases.info.nih.gov/diseases/5878/babesiosis] subset: gard_rare {source="GARD:0005878"} subset: ordo_disease {source="Orphanet:108"} synonym: "Babesia caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Babesia disease or disorder" EXACT [] synonym: "Babesia infectious disease" EXACT [] synonym: "Babesia parasite infection" RELATED [GARD:0005878] synonym: "Babesiasis" EXACT [] synonym: "babesiasis" EXACT [DOID:9643] synonym: "Babesiosis" EXACT [] synonym: "babesiosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Human babesiosis" RELATED [GARD:0005878] synonym: "Infection by babesia" EXACT [] synonym: "infection by Babesia" EXACT [DOID:9643] synonym: "piroplasmosis" EXACT [DOID:9643] xref: DOID:9643 {source="MONDO:equivalentTo", source="EFO:0007162"} xref: ICD10CM:B60.0 {source="Orphanet:108", source="MONDO:equivalentTo", source="Orphanet:108/e", source="DOID:9643"} xref: ICD9:088.82 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9643"} xref: MedDRA:10003965 {source="Orphanet:108", source="Orphanet:108/e"} xref: MESH:D001404 {source="Orphanet:108", source="MONDO:equivalentTo", source="EFO:0007162", source="Orphanet:108/e", source="DOID:9643"} xref: MeSH:D001404 xref: MONDO:0005661 xref: NCIT:C84581 {source="MONDO:equivalentTo", source="DOID:9643"} xref: Orphanet:108 {source="MONDO:equivalentTo"} xref: SCTID:21061004 {source="MONDO:equivalentTo", source="DOID:9643"} xref: UMLS:C0004576 {source="Orphanet:108", source="MONDO:equivalentTo", source="NCIT:C84581", source="Orphanet:108/e", source="DOID:9643"} is_a: MONDO:0002428 {source="DOID:9643", source="MESH:D001404/inferred"} ! protozoa infectious disease relationship: disease_has_feature EFO:0003761 {source="MONDO:Wikidata"} ! unipolar depression relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare property_value: closeMatch http://identifiers.org/meddra/10003965 property_value: exactMatch DOID:9643 property_value: exactMatch http://identifiers.org/mesh/D001404 property_value: exactMatch http://identifiers.org/snomedct/21061004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004576 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B60.0 property_value: exactMatch NCIT:C84581 property_value: exactMatch Orphanet:108 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5878/babesiosis xsd:anyURI {source="GARD:0005878"} [Term] id: EFO:0007163 name: balantidiasis def: "A parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath." [] def: "Infection by parasites of the genus balantidium. The presence of Balantidium in the large intestine leads to diarrhea; dysentery; and occasionally ulcer." [MESH:D001447] subset: gard_rare {source="GARD:0000809"} subset: ordo_disease {source="Orphanet:1223"} synonym: "B coli infection" RELATED [GARD:0000809] synonym: "Balantidiases" RELATED [MESH:D001447] synonym: "Balantidiasis" EXACT [] synonym: "balantidiasis" EXACT [] {comment="preferred label from MONDO"} synonym: "Balantidiasis (disorder)" EXACT [] synonym: "balantidiosis" EXACT [Orphanet:1223] synonym: "Balantidium coli infection" RELATED [GARD:0000809] synonym: "ciliary dysentery" EXACT [Orphanet:1223] synonym: "disease due to Balantidiidae (disorder)" EXACT [] synonym: "Human balantidiasis" RELATED [GARD:0000809] synonym: "large-intestinal infection with Balantidium coli" RELATED [GARD:0000809] xref: DOID:12386 {source="MONDO:equivalentTo", source="EFO:0007163"} xref: ICD10CM:A07.0 {source="Orphanet:1223", source="MONDO:equivalentTo", source="DOID:12386", source="Orphanet:1223/e"} xref: ICD9:007.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12386"} xref: MedDRA:10004080 {source="Orphanet:1223", source="Orphanet:1223/e"} xref: MESH:D001447 {source="Orphanet:1223", source="MONDO:equivalentTo", source="DOID:12386", source="EFO:0007163", source="Orphanet:1223/e"} xref: MeSH:D001447 xref: MONDO:0005662 xref: NCIT:C84583 {source="MONDO:equivalentTo", source="DOID:12386"} xref: Orphanet:1223 {source="MONDO:equivalentTo"} xref: SCTID:57725006 {source="MONDO:equivalentTo", source="DOID:12386"} xref: UMLS:C0004692 {source="Orphanet:1223", source="MONDO:equivalentTo", source="DOID:12386", source="NCIT:C84583", source="Orphanet:1223/e"} is_a: EFO:0007209 ! Ciliophora infectious disease is_a: EFO:0009561 {source="MESH:D001447"} ! parasitic intestinal disease is_a: MONDO:0002428 {source="DOID:12386", source="MESH:D001447/inferred"} ! protozoa infectious disease relationship: disease_has_feature EFO:1001869 {source="MONDO:Wikidata"} ! dysentery relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare property_value: closeMatch http://identifiers.org/meddra/10004080 property_value: exactMatch DOID:12386 property_value: exactMatch http://identifiers.org/mesh/D001447 property_value: exactMatch http://identifiers.org/snomedct/57725006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004692 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A07.0 property_value: exactMatch NCIT:C84583 property_value: exactMatch Orphanet:1223 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/809/balantidiasis xsd:anyURI {source="GARD:0000809"} [Term] id: EFO:0007164 name: Balkan nephropathy def: "A chronic tubulointerstitial nephropathy that affects people in certain rural areas along the Danube river in the Balkans. It leads to end-stage renal disease." [NCIT:P378] def: "An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria." [] synonym: "AAN" RELATED ABBREVIATION [GARD:0008576] synonym: "aristolochic acid nephropathy" EXACT [NCIT:C123025] synonym: "Balkan endemic nephropathy" EXACT [DOID:3052, OMIM:124100] synonym: "Balkan Nephropathy" EXACT [] synonym: "Balkan nephropathy" EXACT [] {comment="preferred label from MONDO"} synonym: "BEN" RELATED ABBREVIATION [GARD:0008576] synonym: "Chinese herb endemic nephropathy" EXACT [NCIT:C123025] synonym: "Danubian endemic familial nephropathy" EXACT [DOID:3052, OMIM:124100] synonym: "DEFN" RELATED ABBREVIATION [DOID:3052, OMIM:124100] synonym: "endemic nephropathy" EXACT [NCIT:C123025] synonym: "nephropathia epidemica" RELATED [OMIM:124100] xref: DOID:3052 {source="MONDO:equivalentTo", source="EFO:0007164"} xref: ICD10CM:N15.0 {source="MONDO:equivalentTo", source="DOID:3052"} xref: ICD9:583.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D001449 {source="MONDO:equivalentTo", source="EFO:0007164", source="DOID:3052"} xref: MeSH:D001449 xref: MONDO:0007416 xref: NCIT:C123025 {source="MONDO:equivalentTo"} xref: OMIM:124100 {source="MONDO:equivalentTo", source="DOID:3052"} xref: SCTID:26121002 {source="MONDO:equivalentTo", source="DOID:3052"} xref: UMLS:C0004698 {source="OMIM:124100", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C123025", source="DOID:3052"} xref: UMLS:C4049993 {source="MONDO:equivalentTo"} xref: Wikipedia:Balkan_endemic_nephropathy is_a: EFO:0004128 ! hereditary nephritis is_a: MONDO:0001085 {source="DOID:3052", source="MESH:D001449"} ! interstitial nephritis property_value: exactMatch DOID:3052 property_value: exactMatch http://identifiers.org/mesh/D001449 property_value: exactMatch http://identifiers.org/snomedct/26121002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004698 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4049993 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/N15.0 property_value: exactMatch https://omim.org/entry/124100 property_value: exactMatch NCIT:C123025 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007165 name: Barre-Lieou syndrome def: "A neurologic syndrome following injury of the spinal sympathetic nerves of the neck. The injury usually results from arthritis or pinching by the adjacent vertebrae. Symptoms include facial pain, chronic allergies, dizziness, neck pain, ear pain and vertigo." [NCIT:P378] def: "A syndrome that involves occipital head aches, nystagmus on head movement, tinnitus, spasms, blurred vision, corneal hyperaesthesia, and corneal ulcers." [] synonym: "Barre-Lieou syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Cervicocranial syndrome" EXACT [DOID:6692, ICD9CM:723.2, NCIT:C34411] synonym: "Cervicocranial syndrome (disorder)" EXACT [] synonym: "Posterior Cervical Sympathetic Syndrome" EXACT [] synonym: "Posterior cervical sympathetic syndrome" EXACT [] synonym: "posterior cervical sympathetic syndrome" EXACT [DOID:6692] xref: DOID:6692 {source="MONDO:equivalentTo", source="EFO:0007165"} xref: ICD10CM:M53.0 {source="MONDO:equivalentTo", source="DOID:6692"} xref: ICD9:723.2 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10068282 xref: MESH:D055010 {source="MONDO:equivalentTo", source="DOID:6692", source="EFO:0007165"} xref: MeSH:D055010 xref: MONDO:0005663 xref: NCIT:C34411 {source="MONDO:equivalentTo", source="DOID:6692"} xref: SCTID:17300000 {source="MONDO:equivalentTo", source="DOID:6692"} xref: UMLS:C0376378 {source="MONDO:equivalentTo", source="NCIT:C34411", source="DOID:6692"} xref: UMLS:C2355645 {source="MONDO:equivalentTo"} is_a: EFO:0000618 {source="EFO:0007165"} ! nervous system disease is_a: MONDO:0002254 {source="DOID:6692", source="NCIT:C34411"} ! syndromic disease relationship: disease_arises_from_feature MONDO:0037747 ! spinal injury property_value: exactMatch DOID:6692 property_value: exactMatch http://identifiers.org/mesh/D055010 property_value: exactMatch http://identifiers.org/snomedct/17300000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0376378 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2355645 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/M53.0 property_value: exactMatch NCIT:C34411 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007166 name: bartonellosis def: "A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella." [] def: "An infectious disease produced by bacteria of the genus Bartonella." [https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/33, Wikipedia:Bartonellosis] synonym: "Bartonella caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Bartonella disease or disorder" EXACT [] synonym: "Bartonella infection" EXACT [NCIT:C84586] synonym: "Bartonella Infections" EXACT [] synonym: "Bartonella infectious disease" EXACT [DOID:11102] synonym: "bartonelliasis" EXACT [DOID:11102] synonym: "bartonellosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Rochalimaea infection" RELATED [MESH:D001474] synonym: "Rochalimaea infection (disorder)" EXACT DEPRECATED [DOID:11102, https://medical-dictionary.thefreedictionary.com/Rochalimaea] synonym: "Rochalimaea infections" RELATED [MESH:D001474] xref: DOID:11102 {source="MONDO:equivalentTo", source="EFO:0007166"} xref: ICD10CM:A44 {source="MONDO:equivalentTo", source="DOID:11102"} xref: ICD9:088.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11102"} xref: MedDRA:10004145 xref: MESH:D001474 {source="MONDO:equivalentTo", source="EFO:0007166", source="DOID:11102"} xref: MeSH:D001474 xref: MONDO:0005664 xref: NCIT:C84586 {source="MONDO:equivalentTo", source="DOID:11102"} xref: SCTID:266123003 {source="MONDO:equivalentTo", source="DOID:11102"} xref: UMLS:C0004771 {source="MONDO:equivalentTo", source="NCIT:C84586", source="DOID:11102"} is_a: EFO:1001125 {source="MESH:D001474", source="MONDO:Entailed", source="MONDO:Redundant"} ! primary Bartonellaceae infectious disease is_a: MONDO:0000314 {source="DOID:11102"} ! primary bacterial infectious disease property_value: exactMatch DOID:11102 property_value: exactMatch http://identifiers.org/mesh/D001474 property_value: exactMatch http://identifiers.org/snomedct/266123003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004771 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A44 property_value: exactMatch NCIT:C84586 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007167 name: Bell's palsy def: "A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve)." [] def: "Partial or complete paralysis of the facial muscles of one side of a person's face. It is caused by damage to the seventh cranial nerve. It is usually temporary but it may recur." [NCIT:C26769] synonym: "Bell Palsy" EXACT [] synonym: "Bell palsy" EXACT [DOID:12506, Orphanet:2810] synonym: "Bell's (facial) palsy" EXACT [DOID:12506] synonym: "Bell's palsy" EXACT [] {comment="preferred label from MONDO"} synonym: "facial nerve palsy" EXACT [MONDO:patterns/location, NCIT:C26769] synonym: "facial nerve paralysis" EXACT [NCIT:C26769] synonym: "facial palsy" RELATED [NCIT:C26769] synonym: "nerve paralysis, Facial" EXACT [NCIT:C26769] synonym: "palsy of facial nerve" EXACT [MONDO:design_pattern] synonym: "paralysis Of Facial nerve" EXACT [NCIT:C26769] xref: DOID:12506 {source="MONDO:equivalentTo", source="EFO:0007167"} xref: ICD10CM:G51.0 {source="DOID:12506", source="MONDO:equivalentTo"} xref: ICD9:351.0 {source="DOID:12506", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10004223 xref: MedDRA:10016060 xref: MESH:D020330 {source="DOID:12506", source="MONDO:equivalentTo", source="EFO:0007167"} xref: MeSH:D020330 xref: MONDO:0005665 xref: NCIT:C26769 {source="MONDO:equivalentTo"} xref: Orphanet:2810 {source="MONDO:equivalentObsolete"} xref: SCTID:193093009 {source="DOID:12506", source="MONDO:equivalentTo"} xref: UMLS:C0376175 {source="DOID:12506", source="MONDO:equivalentTo", source="NCIT:C26769"} is_a: EFO:0009489 {source="NCIT:C26769"} ! cranial nerve palsy is_a: EFO:1002051 {source="DOID:12506/inferred", source="ICD10CM:G51.0", source="MESH:D020330", source="MONDO:Redundant", source="NCIT:C26769"} ! facial nerve disease is_a: MONDO:0001835 {source="DOID:12506"} ! facial paralysis property_value: exactMatch DOID:12506 property_value: exactMatch http://identifiers.org/mesh/D020330 property_value: exactMatch http://identifiers.org/snomedct/193093009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0376175 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G51.0 property_value: exactMatch NCIT:C26769 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007168 name: berylliosis def: "A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds." [] def: "Chronic beryllium disease (CBD) is a granulomatous, interstitial lung disease that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea." [Orphanet:133] subset: ordo_disease {source="Orphanet:133"} synonym: "acute berylliosis" RELATED [GARD:0000867] synonym: "Berylliosis" EXACT [] synonym: "berylliosis" EXACT [MONDO:0005666, Orphanet:133] synonym: "Berylliosis (disorder)" EXACT [] synonym: "beryllium disease" RELATED [GARD:0000867] synonym: "beryllium poisoning" EXACT [DOID:10322] synonym: "Beryllliosis" RELATED [GARD:0000867] synonym: "chronic berylliosis" EXACT [Orphanet:133] synonym: "chronic beryllium disease" EXACT [] {comment="preferred label from MONDO"} synonym: "chronic beryllium lung disease" EXACT [Orphanet:133] synonym: "chronic pulmonary berylliosis" RELATED [GARD:0000867] synonym: "reversible berylliosis" RELATED [GARD:0000867] synonym: "Subacute berylliosis" RELATED [GARD:0000867] xref: DOID:10322 {source="MONDO:equivalentTo", source="EFO:0007168"} xref: ICD9:503 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10004485 {source="Orphanet:133/e", source="Orphanet:133"} xref: MESH:D001607 {source="Orphanet:133/e", source="MONDO:equivalentTo", source="Orphanet:133", source="DOID:10322", source="EFO:0007168"} xref: MeSH:D001607 xref: MONDO:0015274 xref: Orphanet:133 {source="MONDO:equivalentTo"} xref: SCTID:18121009 {source="MONDO:equivalentTo"} is_a: MONDO:0015926 {source="DOID:10322", source="EFO:0007168", source="MESH:D001607", source="MONDO:Redundant", source="Orphanet:133"} ! pneumoconiosis property_value: closeMatch http://identifiers.org/meddra/10004485 property_value: exactMatch DOID:10322 property_value: exactMatch http://identifiers.org/mesh/D001607 property_value: exactMatch http://identifiers.org/snomedct/18121009 property_value: exactMatch Orphanet:133 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007169 name: biliary dyskinesia def: "A gallbladder disease characterized by altered tonus of the sphincter of Oddi, disturbance in the coordination of contraction of the biliary ducts, and/or reduction in the speed of emptying of the biliary tree." [] def: "A motility disorder characterized by biliary colic, absence of gallstones, and an abnormal gallbladder ejection fraction. It is caused by gallbladder dyskinesia and/or sphincter of oddi dysfunction." [MESH:D001657] comment: Editor note: consider ciliary classification synonym: "Biliary Dyskinesia" EXACT [] synonym: "biliary dyskinesia" EXACT [] {comment="preferred label from MONDO"} synonym: "sphincter of Oddi dysfunction" EXACT [DOID:4140] synonym: "sphincter of oddi dysfunction" EXACT [] xref: DOID:4140 {source="EFO:0007169", source="MONDO:equivalentTo"} xref: HP:0012396 {source="MONDO:otherHierarchy", source="DOID:4140"} xref: ICD9:575.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10056529 xref: MESH:D001657 {source="EFO:0007169", source="MONDO:equivalentTo", source="DOID:4140"} xref: MeSH:D001657 xref: MONDO:0005667 xref: SCTID:197432008 {source="MONDO:equivalentTo", source="DOID:4140"} xref: UMLS:C0005416 {source="MONDO:equivalentTo", source="DOID:4140"} is_a: EFO:0003832 {source="DOID:4140", source="EFO:0007169"} ! gallbladder disease is_a: MONDO:0002866 ! duodenal disorder is_a: MONDO:0002886 {source="MESH:D001657", source="MONDO:Redundant"} ! common bile duct disorder property_value: exactMatch DOID:4140 property_value: exactMatch http://identifiers.org/mesh/D001657 property_value: exactMatch http://identifiers.org/snomedct/197432008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005416 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007170 name: bird fancier's lung def: "An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen." [] def: "Hypersensitivity granulomatous pneumonitis caused by the inhalation of avian antigens that are present in the dust of the droppings and feathers of many species of birds. In the acute phase it manifests as fever, chills, dyspnea, cough, and chest tightness. Chronic exposure may lead to interstitial lung fibrosis." [NCIT:C34425] subset: ordo_disease {source="Orphanet:99908"} synonym: "Avian hypersensitivity Pneumonitis" EXACT [] synonym: "Avian hypersensitivity pneumonitis" EXACT [DOID:13891, NCIT:C34425] synonym: "bird breeder's lung" EXACT [DOID:13891] synonym: "bird fancier lung" EXACT [DOID:13891, Orphanet:99908] synonym: "Bird Fancier's Lung" EXACT [] synonym: "bird fancier's lung" EXACT [NCIT:C34425] synonym: "bird fancier's lung" EXACT [] {comment="preferred label from MONDO"} synonym: "bird-breeder's lung" RELATED [NCIT:C34425] synonym: "bird-fancier's lung" EXACT [DOID:13891] synonym: "Bird-fancier's lung NOS (disorder)" EXACT [] synonym: "Bird-fanciers' lung" EXACT [] synonym: "bird-fanciers' lung" EXACT [DOID:13891, ICD9CM:495.2] synonym: "Bird-fanciers' lung (disorder)" EXACT [] synonym: "pigeon breeder's lung" EXACT [DOID:13891] synonym: "pigeon-breeder lung disease" EXACT [MONDO:0020536] synonym: "pigeon-breeder's lung" EXACT [NCIT:C34425] synonym: "poultry worker's lung" EXACT [] synonym: "poultry worker's lung" RELATED [DOID:13891] xref: DOID:13891 {source="MONDO:equivalentTo", source="EFO:0007170"} xref: ICD10CM:J67.2 {source="MONDO:equivalentTo", source="DOID:13891", source="Orphanet:99908/ntbt", source="Orphanet:99908"} xref: ICD9:495.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13891"} xref: MedDRA:10004941 {source="Orphanet:99908/e", source="Orphanet:99908"} xref: MESH:D001716 {source="Orphanet:99908/e", source="MONDO:equivalentTo", source="EFO:0007170", source="DOID:13891", source="Orphanet:99908"} xref: MeSH:D001716 xref: MONDO:0005668 xref: NCIT:C34425 {source="MONDO:equivalentTo", source="DOID:13891"} xref: Orphanet:99908 {source="MONDO:equivalentTo"} xref: SCTID:69339004 {source="MONDO:equivalentTo", source="DOID:13891"} xref: UMLS:C0005592 {source="MONDO:equivalentTo", source="DOID:13891", source="NCIT:C34425"} is_a: MONDO:0020537 {source="Orphanet:99908"} ! occupational allergic alveolitis property_value: closeMatch http://identifiers.org/meddra/10004941 property_value: exactMatch DOID:13891 property_value: exactMatch http://identifiers.org/mesh/D001716 property_value: exactMatch http://identifiers.org/snomedct/69339004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005592 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/J67.2 property_value: exactMatch NCIT:C34425 property_value: exactMatch Orphanet:99908 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007171 name: black piedra def: "A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Piedraia hortae, an ascomycetous fungus forming hard black nodules on the shafts of the scalp, beard, moustache and pubic hair." [] def: "A superficial mycosis that is caused by Piedraia hortae and is manifested by a small firm black nodule involving the hair shaft." [https://www.ncbi.nlm.nih.gov/books/NBK7902] synonym: "black piedra" EXACT [] {comment="preferred label from MONDO"} synonym: "Piedra" EXACT [] xref: DOID:12711 {source="EFO:0007171", source="MONDO:equivalentTo"} xref: ICD10CM:B36.3 {source="DOID:12711", source="MONDO:equivalentTo"} xref: ICD9:111.3 {source="DOID:12711", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10004975 xref: MeSH:D010854 xref: MONDO:0005669 xref: SCTID:33666009 {source="DOID:12711", source="MONDO:equivalentTo"} xref: UMLS:C0153249 {source="DOID:12711", source="MONDO:equivalentTo"} is_a: MONDO:0000253 {source="DOID:12711"} ! piedra property_value: exactMatch DOID:12711 property_value: exactMatch http://identifiers.org/snomedct/33666009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153249 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B36.3 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007172 name: blackwater fever def: "A complication of malaria resulting from hemolysis." [NCIT:C34426] def: "A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax." [] synonym: "Black water fever" EXACT [DOID:14068] synonym: "Black water fever (disorder)" EXACT [] synonym: "Blackwater Fever" EXACT [] synonym: "Blackwater fever" EXACT [] synonym: "blackwater fever" EXACT [] {comment="preferred label from MONDO"} synonym: "blackwater fever" EXACT [DOID:14068, ICD9CM:084.8, NCIT:C34426] synonym: "Hemoglobinuric, malaria" EXACT [] synonym: "hemoglobinuric, malaria" EXACT [DOID:14068] synonym: "Malarial Hemoglobinuria" EXACT [] synonym: "malarial hemoglobinuria" EXACT [DOID:14068, NCIT:C34426] xref: DOID:14068 {source="MONDO:equivalentTo", source="EFO:0007172"} xref: ICD9:084.8 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14068"} xref: MedDRA:10004984 xref: MESH:D001742 {source="MONDO:equivalentTo", source="EFO:0007172", source="DOID:14068"} xref: MeSH:D001742 xref: MONDO:0005670 xref: NCIT:C34426 {source="MONDO:equivalentTo", source="DOID:14068"} xref: SCTID:56625005 {source="MONDO:equivalentTo", source="DOID:14068"} xref: UMLS:C0005681 {source="MONDO:equivalentTo", source="DOID:14068", source="NCIT:C34426"} is_a: EFO:0001068 {source="DOID:14068", source="EFO:0007172", source="MESH:D001742/inferred", source="NCIT:C34426"} ! malaria property_value: exactMatch DOID:14068 property_value: exactMatch http://identifiers.org/mesh/D001742 property_value: exactMatch http://identifiers.org/snomedct/56625005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005681 property_value: exactMatch NCIT:C34426 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007173 name: Blastocystis hominis infectious disease def: "A parasitic stramenopiles infectious disease that involves infection of the intestine with a pathogenic heterokont Blastocystis hominis. The symptoms include watery diarrhea, abdominal pain, perianal pruritus, and excessive flatulence." [] def: "Infections with organisms of the genus blastocystis. The species B. hominis is responsible for most infections. Parasitologic surveys have generally found small numbers of this species in human stools, but higher positivity rates and organism numbers in aids patients and other immunosuppressed patients (immunocompromised host). Symptoms include abdominal pain; diarrhea; constipation; vomiting; and fatigue." [MESH:D016776] synonym: "Blastocystis infection" EXACT [MESH:D016776, MONDO:patterns/infectious_disease_by_agent] synonym: "Blastocystis Infections" EXACT [] synonym: "Blastocystis infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "infection, Blastocystis" RELATED [MESH:D016776] synonym: "infections, Blastocystis" RELATED [MESH:D016776, MONDO:patterns/infectious_disease_by_agent] xref: DOID:11897 xref: MESH:D016776 {source="MONDO:equivalentTo", source="EFO:0007173"} xref: MeSH:D016776 xref: MONDO:0005671 xref: SCTID:721809007 {source="MONDO:equivalentTo"} is_a: EFO:0007144 {source="MESH:D016776"} ! amebiasis is_a: EFO:0009561 {source="MESH:D016776"} ! parasitic intestinal disease property_value: exactMatch http://identifiers.org/mesh/D016776 property_value: exactMatch http://identifiers.org/snomedct/721809007 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007174 name: blastomycosis def: "A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening." [] def: "Blastomycosis is a rare infection that may develop when people inhale a fungus called Blastomyces dermatitidis, a fungus that is found in moist soil, particularly where there is rotting vegetation. The fungus enters the body through the lungs, infecting them. The fungus then spreads to other areas of the body.The infection may affect the skin, bones and joints, and other areas. The disease usually affects people with weakened immune systems, such as those with HIV or who have had an organ transplant." [https://rarediseases.info.nih.gov/diseases/5931/blastomycosis] subset: gard_rare {source="GARD:0005931"} synonym: "Blastomyces dermatitidis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Blastomyces dermatitidis disease or disorder" EXACT [] synonym: "Blastomyces Dermatitidis Infection" EXACT [] synonym: "Blastomyces dermatitidis infection" EXACT [DOID:12663, NCIT:C34429] synonym: "Blastomyces dermatitidis infectious disease" EXACT [] synonym: "Blastomycosis" EXACT [] synonym: "blastomycosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Blastomycosis (& [Chicago disease] or [Gilchrists disease] or [North American])" EXACT [] synonym: "Blastomycosis NOS (disorder)" EXACT [] synonym: "Blastomycosis, unspecified (disorder)" EXACT [] synonym: "Blastomycotic infection" EXACT [] synonym: "blastomycotic infection" EXACT [DOID:12663, ICD9CM:116] synonym: "Chicago disease" EXACT [DOID:12663] synonym: "Chicago disease (disorder)" EXACT [] synonym: "Gilchrist's disease" EXACT [DOID:12663] synonym: "Gilchrist's disease (disorder)" EXACT [] synonym: "infection by Blastomyces dermatitidis" EXACT [DOID:12663] synonym: "Infection by Blastomyces dermatitidis (disorder)" EXACT [] synonym: "North American blastomycosis" EXACT [DOID:12663, MTH:NOCODE] xref: CSP:1988-4119 {source="DOID:12663"} xref: DOID:12663 {source="MONDO:equivalentTo", source="EFO:0007174"} xref: ICD10CM:B40 {source="MONDO:equivalentTo", source="DOID:12663"} xref: ICD9:116 {source="DOID:12663"} xref: ICD9:116.0 {source="DOID:12663"} xref: MedDRA:10005098 xref: MESH:D001759 {source="MONDO:equivalentTo", source="EFO:0007174", source="DOID:12663"} xref: MeSH:D001759 xref: MONDO:0005672 xref: NCIT:C34428 {source="MONDO:equivalentTo", source="DOID:12663"} xref: NCIT:C34429 {source="MONDO:equivalentTo", source="DOID:12663"} xref: SCTID:191950004 {source="MONDO:equivalentTo", source="DOID:12663"} xref: UMLS:C0005716 {source="MONDO:equivalentTo", source="DOID:12663"} xref: UMLS:C0005717 {source="NCIT:C34429", source="MONDO:equivalentTo"} is_a: MONDO:0000308 {source="DOID:12663"} ! primary systemic mycosis property_value: exactMatch DOID:12663 property_value: exactMatch http://identifiers.org/mesh/D001759 property_value: exactMatch http://identifiers.org/snomedct/191950004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005716 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005717 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B40 property_value: exactMatch NCIT:C34428 property_value: exactMatch NCIT:C34429 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5931/blastomycosis xsd:anyURI {source="GARD:0005931"} [Term] id: EFO:0007175 name: blind loop syndrome def: "A disorder affecting the small intestine. It is caused by the stasis of food and subsequent overgrowth of bacteria in a portion of the small intestine that is unintentionally bypassed as a complication of abdominal surgery or as a sequela of gastrointestinal disorders which impede effective motility. Clinical signs include bloating, abdominal pain, diarrhea and weight loss. If untreated, the clinical course progresses to malabsorption of fats, vitamin B12 and calcium, the latter which predisposes to nephrolithiasis and osteoporosis." [NCIT:P378] def: "An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption." [] synonym: "bacterial overgrowth syndrome" EXACT [DOID:10606] synonym: "Bacterial overgrowth syndrome (disorder)" EXACT [] synonym: "Blind Loop Syndrome" EXACT [] synonym: "Blind loop syndrome" EXACT [] synonym: "blind loop syndrome" EXACT [DOID:10606, ICD9CM:579.2] synonym: "blind loop syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Blind loop syndrome (disorder)" EXACT [] synonym: "stasis (blind loop) syndrome" EXACT [NCIT:C34431] synonym: "stasis syndrome" EXACT [NCIT:C34431] xref: DOID:10606 {source="MONDO:equivalentTo", source="EFO:0007175"} xref: ICD9:579.2 {source="DOID:10606"} xref: MedDRA:10005166 xref: MESH:D001765 {source="MONDO:equivalentTo", source="DOID:10606", source="EFO:0007175"} xref: MeSH:D001765 xref: MONDO:0005673 xref: NCIT:C34431 {source="MONDO:equivalentTo", source="DOID:10606"} xref: SCTID:66379009 {source="MONDO:equivalentTo", source="DOID:10606"} xref: UMLS:C0005750 {source="MONDO:equivalentTo", source="NCIT:C34431", source="DOID:10606"} is_a: EFO:0009554 ! malabsorption syndrome property_value: exactMatch DOID:10606 property_value: exactMatch http://identifiers.org/mesh/D001765 property_value: exactMatch http://identifiers.org/snomedct/66379009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005750 property_value: exactMatch NCIT:C34431 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007176 name: bone giant cell tumor alt_id: MONDO:0018219 def: "A benign but locally aggressive tumor that arises from the bone and is composed of mononuclear cells admixed with macrophages and osteoclast-like giant cells. It usually arises from the ends of long bones or the vertebrae. Clinical presentation includes pain, edema, and decreased range of motion in the affected joint." [NCIT:C121932] subset: ordo_disease {source="Orphanet:363976"} synonym: "benign bone giant cell tumor" EXACT [NCIT:C121932] synonym: "benign bone giant cell tumour" EXACT OMO:0003005 [] synonym: "bone giant cell tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "bone giant cell tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "GCT of bone" EXACT [Orphanet:363976] synonym: "giant cell myeloma" RELATED [DOID:4305] synonym: "giant cell neoplasm of bone" EXACT [DOID:4305, NCIT:C3738] synonym: "giant cell tumor of bone" EXACT [MONDO:ambiguous] synonym: "giant cell tumor of bone (morphologic abnormality)" EXACT [DOID:4305] synonym: "giant cell tumor of bone NOS (morphologic abnormality)" EXACT [DOID:4305] synonym: "giant cell tumor of the bone" EXACT [NCIT:C121932] synonym: "giant cell tumor, benign" EXACT [NCIT:C121932] synonym: "giant cell tumour of bone" EXACT OMO:0003005 [] synonym: "giant cell tumour of bone (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "giant cell tumour of bone NOS (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "giant cell tumour of the bone" EXACT OMO:0003005 [] synonym: "osteoclastoma" RELATED [DOID:4305] synonym: "Osteoclastoma, benign" EXACT [NCIT:C121932] xref: DOID:4305 {source="MONDO:equivalentTo", source="EFO:0007176"} xref: EFO:0007176 {source="MONDO:equivalentTo"} xref: GARD:0013046 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0011847 {source="MONDO:otherHierarchy"} xref: ICD10:D48.0 {source="ORDO:363976/ntbt", source="Orphanet:363976"} xref: MESH:D018212 {source="DOID:4305", source="MONDO:equivalentTo", source="EFO:0007176"} xref: MONDO:0005674 xref: NCIT:C121932 {source="DOID:4305", source="MONDO:equivalentTo"} xref: ONCOTREE:GCTB {source="MONDO:equivalentTo"} xref: Orphanet:363976 {source="MONDO:equivalentTo"} xref: SCTID:697970009 {source="DOID:4305", source="MONDO:equivalentTo"} xref: UMLS:C0206638 {source="NCIT:C121932", source="DOID:4305", source="MONDO:equivalentTo", source="Orphanet:363976"} is_a: MONDO:0021054 {source="Orphanet:363976"} ! bone sarcoma property_value: closeMatch http://identifiers.org/snomedct/189891002 property_value: closeMatch http://identifiers.org/snomedct/57500000 property_value: exactMatch DOID:4305 property_value: exactMatch DOID:4305 property_value: exactMatch http://identifiers.org/mesh/D018212 property_value: exactMatch http://identifiers.org/mesh/D018212 property_value: exactMatch http://identifiers.org/snomedct/697970009 property_value: exactMatch http://identifiers.org/snomedct/697970009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206638 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206638 property_value: exactMatch NCIT:C121932 property_value: exactMatch NCIT:C121932 property_value: exactMatch Orphanet:363976 [Term] id: EFO:0007177 name: border disease def: "A viral infectious disease that results_in infection in sheep and goats, has_material_basis_in Border disease virus, which is transmitted_by congenital method. The infection has_symptom abortion, has_symptom stillbirth, has_symptom hairy fleece in lambs, and has_symptom abnormal body conformation." [] def: "Congenital disorder of lambs caused by a virus closely related to or identical with certain strains of bovine viral diarrhea virus." [MESH:D001882] synonym: "Border Disease" EXACT [] synonym: "border disease" EXACT [] {comment="preferred label from MONDO"} synonym: "hairy shaker disease" EXACT [] xref: DOID:4804 xref: MESH:D001882 {source="MONDO:equivalentTo", source="EFO:0007177"} xref: MeSH:D001882 xref: MONDO:0005675 xref: UMLS:C0006008 {source="MONDO:equivalentTo"} is_a: MONDO:0024985 ! sheep disease property_value: exactMatch http://identifiers.org/mesh/D001882 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006008 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: RO:0002175 NCBITaxon:9940 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"} [Term] id: EFO:0007178 name: borna disease def: "A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus, which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment." [] def: "An encephalomyelitis of horses, sheep and cattle caused by borna disease virus." [MESH:D001890] synonym: "Borna Disease" EXACT [] synonym: "borna disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Enzootic encephalomyelitis" EXACT [] synonym: "enzootic encephalomyelitis" EXACT [DOID:5154] xref: DOID:5154 {source="MONDO:equivalentTo", source="EFO:0007178"} xref: MESH:D001890 {source="MONDO:equivalentTo", source="DOID:5154", source="EFO:0007178"} xref: MeSH:D001890 xref: MONDO:0005676 xref: UMLS:C0006023 {source="MONDO:equivalentTo", source="DOID:5154"} is_a: EFO:0001423 {source="EFO:0007178"} ! encephalomyelitis is_a: EFO:0007376 ! Mononegavirales infectious disease is_a: MONDO:0024318 ! viral infection of central nervous system property_value: exactMatch DOID:5154 property_value: exactMatch http://identifiers.org/mesh/D001890 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006023 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007179 name: boutonneuse fever def: "A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities." [] synonym: "african tick typhus" EXACT [] synonym: "African tick typhus (disorder)" EXACT [] synonym: "Boutonneuse Fever" EXACT [] synonym: "kenya tick typhus" EXACT [] synonym: "marseilles fever" EXACT [] synonym: "Rickettsia conorii infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Rickettsia conorii spotted fever" EXACT [] synonym: "South African tick-bite fever (disorder)" EXACT [] xref: DOID:14095 xref: MedDRA:10006045 xref: MeSH:D001907 xref: MONDO:0005677 is_a: EFO:1002047 ! spotted fever property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007180 name: bovine respiratory disease complex def: "A multifactorial disease of cattle resulting from complex interactions between environmental factors, host factors, and pathogens. The environmental factors act as stressors adversely affecting the immune system and other host defenses and enhancing transmission of infecting agents." [MESH:D048090] def: "A pneumonia which has a multifactorial etiology and develops as a result of complex interactions between environmental factors, host factors, and pathogens leading to pulmonary lesions caused by various micro organisms ( essentially viruses and bacteria). Environmental factors (eg, weaning, transport, commingling, crowding, and inadequate ventilation) serve as stressors that adversely affect the immune and nonimmune defense mechanisms of the host. In addition, certain environmental factors (eg, crowding and inadequate ventilation) can enhance the transmission of infectious agents among animals." [] synonym: "Bovine Respiratory Disease Complex" EXACT [] synonym: "bovine respiratory disease complex" EXACT [] {comment="preferred label from MONDO"} xref: DOID:3732 xref: MESH:D048090 {source="EFO:0007180", source="MONDO:equivalentTo"} xref: MeSH:D048090 xref: MONDO:0005678 xref: UMLS:C1449809 {source="MONDO:equivalentTo"} is_a: MONDO:0024913 {source="MESH:D048090"} ! cattle disease is_a: MONDO:0700104 ! respiratory system disorder, non-human animal property_value: exactMatch http://identifiers.org/mesh/D048090 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1449809 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007181 name: bovine virus diarrhea-mucosal disease def: "A viral infectious disease that results_in infection in cattle, located_in intestine, has_material_basis_in Bovine viral diarrhea virus 1, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom lesions in the mucosa of digestive tract, has_symptom necrosis of lymphoid tissue, has_symptom hoof inflammation and dermatitis, and has_symptom diarrhea." [] def: "Acute disease of cattle caused by the bovine viral diarrhea viruses (diarrhea viruses, bovine viral). Often mouth ulcerations are the only sign but fever, diarrhea, drop in milk yield, and loss of appetite are also seen. Severity of clinical disease varies and is strain dependent. Outbreaks are characterized by low morbidity and high mortality." [MESH:D001912] synonym: "bovine hemorrhagic syndrome" EXACT [MESH:D030243] synonym: "Bovine Virus Diarrhea-Mucosal Disease" EXACT [] synonym: "bovine virus diarrhea-mucosal disease" EXACT [] {comment="preferred label from MONDO"} synonym: "hemorrhagic syndrome, bovine" EXACT [MONDO:0025155] xref: DOID:5115 {source="MONDO:equivalentObsolete", source="EFO:0007181"} xref: MESH:D001912 {source="MONDO:equivalentTo", source="EFO:0007181"} xref: MeSH:D001912 xref: MESH:D030243 {source="MONDO:equivalentTo"} xref: MONDO:0005679 xref: UMLS:C0006075 {source="MONDO:equivalentTo"} xref: UMLS:C0950112 {source="MONDO:equivalentTo"} is_a: MONDO:0024913 {source="MESH:D030243"} ! cattle disease is_a: MONDO:0700203 {source="MESH:D030243"} ! pestivirus infectious disease, non-human animal property_value: exactMatch http://identifiers.org/mesh/D001912 property_value: exactMatch http://identifiers.org/mesh/D030243 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006075 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0950112 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5294 xsd:anyURI [Term] id: EFO:0007182 name: Brill-Zinsser disease def: "A delayed relapse of epidemic typhus, caused by Rickettsia prowazekii." [Wikipedia:Brill%E2%80%93Zinsser_disease] def: "An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses." [] subset: ordo_clinical_subtype {source="Orphanet:99990"} synonym: "Brill disease" EXACT [Orphanet:99990] synonym: "Brill Zinsser disease" EXACT [DOID:11254] synonym: "Brill's disease" EXACT [DOID:11254, ICD9CM:081.1] synonym: "Brill-Zinsser disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Brill-Zinsser disease (disorder)" EXACT [] synonym: "latent typhus" RELATED [DOID:11254] synonym: "Recrudescent typhus" EXACT [] synonym: "recrudescent typhus" EXACT [DOID:11254, Orphanet:99990] synonym: "sporadic typhus" RELATED [DOID:11254] synonym: "Typhus, Epidemic Louse-Borne" EXACT [] xref: DOID:11254 {source="EFO:0007182", source="MONDO:equivalentTo"} xref: ICD9:081.1 {source="DOID:11254"} xref: MeSH:D014438 xref: MONDO:0005680 xref: Orphanet:99990 {source="MONDO:equivalentTo"} xref: SCTID:47761007 {source="MONDO:equivalentTo", source="DOID:11254"} xref: UMLS:C0006181 {source="MONDO:equivalentTo", source="DOID:11254", source="Orphanet:99990"} is_a: MONDO:0019362 {source="DOID:11254", source="Orphanet:99990"} ! epidemic louse-borne typhus property_value: exactMatch DOID:11254 property_value: exactMatch http://identifiers.org/snomedct/47761007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006181 property_value: exactMatch Orphanet:99990 property_value: excluded_subClassOf MONDO:0005619 {source="EFO:0007182", source="https://github.com/EBISPOT/efo/issues/171"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007183 name: bronchiolitis obliterans def: "A lung disorder that is mainly associated with chronic allograft dysfunction after lung transplantation and that is characterized by inflammation and fibrosis of bronchiolar walls that reduce the diameter of the bronchioles and result in progressive and irreversible airflow obstruction." [https://orcid.org/0000-0001-5208-3432, Orphanet:1303] def: "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults." [] comment: This is restricted to lung transplant patients. subset: gard_rare subset: ordo_disease {source="Orphanet:1303"} synonym: "BO" RELATED ABBREVIATION [NCIT:C62580] synonym: "BOOP" EXACT ABBREVIATION [Orphanet:1303] synonym: "Bronchiolitis exudativa" EXACT [] synonym: "bronchiolitis exudativa" RELATED [DOID:2799] synonym: "bronchiolitis fibrosa obliterans" EXACT [DOID:2799] synonym: "Bronchiolitis fibrosa obliterans (disorder)" EXACT [] synonym: "Bronchiolitis Obliterans" EXACT [] synonym: "bronchiolitis obliterans" RELATED [MONDO:ambiguous] synonym: "bronchiolitis obliterans syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "bronchiolitis obliterans with obstructive pulmonary disease" NARROW [Orphanet:1303] synonym: "constrictive bronchiolitis" EXACT [Orphanet:1303] synonym: "Obliterative bronchiolitis" EXACT [] synonym: "obliterative bronchiolitis" RELATED [DOID:2799, Orphanet:1303] synonym: "organised pneumonia" EXACT OMO:0003005 [] synonym: "organising pneumonia" RELATED OMO:0003005 [] synonym: "organized pneumonia" EXACT [] synonym: "organizing pneumonia" RELATED [GARD:0005961] xref: DOID:2799 {source="MONDO:equivalentTo", source="EFO:0007183"} xref: HP:0011946 {source="MONDO:otherHierarchy"} xref: ICD9:466.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:491.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10049202 xref: MeSH:D001989 xref: MONDO:0015265 xref: Orphanet:1303 {source="GARD:0005961", source="MONDO:equivalentTo"} xref: SCTID:40100001 {source="MONDO:equivalentTo", source="DOID:2799"} xref: UMLS:CN199179 {source="MONDO:equivalentTo"} is_a: EFO:0004244 {source="DOID:2799", source="EFO:0007183"} ! interstitial lung disease is_a: MONDO:0002465 {source="NCIT:C62580"} ! bronchiolitis property_value: exactMatch DOID:2799 property_value: exactMatch http://identifiers.org/snomedct/40100001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199179 property_value: exactMatch Orphanet:1303 property_value: excluded_subClassOf MONDO:0005249 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5260 xsd:anyURI [Term] id: EFO:0007184 name: bronchopneumonia def: "A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses." [] def: "Acute inflammation of the walls of the terminal bronchioles that spreads into the peribronchial alveoli and alveolar ducts. It results in the creation of foci of consolidation, which are surrounded by normal parenchyma. It affects one or more lobes, and is frequently bilateral and basal. It is usually caused by bacteria (e.g., Staphylococcus, Streptococcus, Haemophilus influenzae). Signs and symptoms include fever, cough with production of brown-red sputum, dyspnea, and chest pain." [NCIT:P378] synonym: "bronchial pneumonia" EXACT [DOID:12375] synonym: "Bronchopneumonia" EXACT [] synonym: "bronchopneumonia" EXACT [] {comment="preferred label from MONDO"} synonym: "chest infection - bronchopneumonia" EXACT [DOID:12375] synonym: "Chest infection - unspecified bronchopneumonia" EXACT [] synonym: "chest infection - unspecified bronchopneumonia" EXACT [DOID:12375] synonym: "lobular pneumonia" EXACT [DOID:12375] xref: DOID:12375 {source="MONDO:equivalentTo", source="EFO:0007184"} xref: ICD9:485 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12375"} xref: MedDRA:10006469 xref: MedDRA:10006471 xref: MESH:D001996 {source="MONDO:equivalentTo", source="EFO:0007184", source="DOID:12375"} xref: MeSH:D001996 xref: MONDO:0005682 xref: NCIT:C26710 {source="MONDO:equivalentTo", source="DOID:12375"} xref: SCTID:396285007 {source="MONDO:equivalentTo", source="DOID:12375"} xref: UMLS:C0006285 {source="MONDO:equivalentTo", source="NCIT:C26710", source="DOID:12375"} is_a: EFO:0003106 {source="DOID:12375", source="EFO:0007184", source="MESH:D001996", source="NCIT:C26710"} ! pneumonia property_value: exactMatch DOID:12375 property_value: exactMatch http://identifiers.org/mesh/D001996 property_value: exactMatch http://identifiers.org/snomedct/396285007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006285 property_value: exactMatch NCIT:C26710 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007185 name: brucellosis def: "A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue." [] def: "Brucellosis is a bacterial infection that spreads from animals to people via unpasteurized dairy products or by exposure to contaminated animal products or infected animals. Animals that are most commonly infected include sheep, cattle, goats, pigs, and dogs. Brucellosis can cause of range of signs and symptoms, some of which may persist or recur. Initial symptoms may include fever, sweats, malaise, anorexia, headache, fatigue, and/or pain in the muscles, joints, and/or back. Symptoms that may persist or recur include fevers, arthritis, swelling of the testicle and scrotum, swelling of the heart (endocarditis), neurologic symptoms (in up to 5% of cases), chronic fatigue, depression, and/or swelling of the liver or spleen. People who are in jobs or settings that increase exposure to the bacteria are at increased risk for infection. Antibiotics are used to treat brucellosis. Recovery may take a few weeks to several months, and relapses are common. Death from brucellosis is rare, occurring in no more than 2% of cases." [https://rarediseases.info.nih.gov/diseases/5966/brucellosis] subset: gard_rare {source="GARD:0005966"} subset: ordo_disease {source="Orphanet:1304"} synonym: "bang's disease" RELATED [DOID:11077] synonym: "Brucellosis" EXACT [] synonym: "brucellosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Cyprus fever" RELATED [GARD:0005966] synonym: "Gibraltar fever" RELATED [DOID:11077] synonym: "Malta fever" RELATED [DOID:11077] synonym: "Maltese fever" EXACT [DOID:11077] synonym: "Mediterranean fever" RELATED [DOID:11077] synonym: "Rock fever" RELATED [GARD:0005966] synonym: "undulant fever" EXACT [DOID:11077] xref: DOID:11077 {source="MONDO:equivalentTo", source="EFO:0007185"} xref: ICD10CM:A23 {source="MONDO:equivalentTo", source="DOID:11077"} xref: ICD9:023 {source="DOID:11077"} xref: ICD9:023.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11077"} xref: MedDRA:10006500 {source="Orphanet:1304", source="Orphanet:1304/e"} xref: MedDRA:10006501 xref: MESH:D002006 {source="MONDO:equivalentTo", source="Orphanet:1304", source="DOID:11077", source="EFO:0007185", source="Orphanet:1304/e"} xref: MeSH:D002006 xref: MONDO:0005683 xref: NCIT:C84602 {source="MONDO:equivalentTo", source="DOID:11077"} xref: Orphanet:1304 {source="MONDO:equivalentTo"} xref: SCTID:75702008 {source="MONDO:equivalentTo", source="DOID:11077"} xref: UMLS:C0006309 {source="NCIT:C84602", source="MONDO:equivalentTo", source="Orphanet:1304", source="DOID:11077", source="Orphanet:1304/e"} is_a: MONDO:0000314 {source="DOID:11077"} ! primary bacterial infectious disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare property_value: closeMatch http://identifiers.org/meddra/10006500 property_value: exactMatch DOID:11077 property_value: exactMatch http://identifiers.org/mesh/D002006 property_value: exactMatch http://identifiers.org/snomedct/75702008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006309 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A23 property_value: exactMatch NCIT:C84602 property_value: exactMatch Orphanet:1304 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5966/brucellosis xsd:anyURI {source="GARD:0005966"} [Term] id: EFO:0007186 name: bulbar polio def: "A form of paralytic poliomyelitis affecting neurons of the medulla oblongata of the brain stem. Clinical features include impaired respiration, hypertension, alterations of vasomotor control, and dysphagia. Weakness and atrophy of the limbs and trunk due to spinal cord involvement is usually associated. (From Adams et al., Principles of Neurology, 6th ed, p765)" [MESH:D011052] def: "A paralytic poliomyelitis that results_in destruction located_in motor neurons of brainstem, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, has_symptom difficulty speaking, has_symptom difficulty swallowing, and has_symptom difficulty chewing." [] synonym: "bulbar polio" EXACT [] {comment="preferred label from MONDO"} synonym: "bulbar polio" EXACT [MESH:D011052] synonym: "bulbar poliomyelitis" EXACT [DOID:9786, MESH:D011052] synonym: "medullary involvement poliomyelitis" RELATED [MESH:D011052] synonym: "polio, bulbar" RELATED [MESH:D011052] synonym: "Poliomyelitis, Bulbar" EXACT [] synonym: "poliomyelitis, medullary involvement" RELATED [MESH:D011052] xref: DOID:9786 {source="MONDO:equivalentTo", source="EFO:0007186"} xref: ICD9:045.0 {source="DOID:9786"} xref: MedDRA:10006544 xref: MESH:D011052 {source="MONDO:equivalentTo", source="EFO:0007186", source="DOID:9786"} xref: MeSH:D011052 xref: MONDO:0005684 xref: UMLS:C0032372 {source="MONDO:equivalentTo", source="DOID:9786"} is_a: MONDO:0000341 {source="DOID:9786"} ! paralytic poliomyelitis is_a: MONDO:0015141 ! disorder of medulla oblongata relationship: EFO:0000784 CL:0000100 ! has_disease_location motor neuron property_value: exactMatch DOID:9786 property_value: exactMatch http://identifiers.org/mesh/D011052 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032372 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007187 name: bullous pemphigoid def: "An autoimmune disease of skin and connective tissue characterized by large blisters." [] def: "Bullous pemphigoid (BP) is the most common form of autoimmune bullous dermatosis." [Orphanet:703] subset: ordo_disease {source="Orphanet:703"} synonym: "benign pemphigus" RELATED [GARD:0005972] synonym: "Bullous pemphigoid" EXACT [] synonym: "bullous pemphigoid" EXACT [] {comment="preferred label from MONDO"} synonym: "bullous pemphigoid" EXACT [DOID:8506, MONDO:0005685, MTH:NOCODE] synonym: "Bullous pemphigoid (disorder)" EXACT [] synonym: "Old Age pemphigus" RELATED [GARD:0005972] synonym: "Parapemphigus" RELATED [GARD:0005972] synonym: "Pemphigoid, Bullous" EXACT [] synonym: "senile dermatitis herpetiformis" RELATED [GARD:0005972] xref: DOID:8506 {source="MONDO:equivalentTo", source="EFO:0007187"} xref: ICD10:L12 xref: ICD10CM:L12.0 {source="MONDO:equivalentTo", source="DOID:8506", source="Orphanet:703", source="Orphanet:703/e"} xref: ICD9:694.5 {source="DOID:8506"} xref: MedDRA:10006567 xref: MESH:D010391 {source="MONDO:equivalentTo", source="DOID:8506", source="Orphanet:703", source="EFO:0007187", source="Orphanet:703/e"} xref: MeSH:D010391 xref: MONDO:0019082 xref: NCIT:C84389 {source="MONDO:equivalentTo", source="DOID:8506"} xref: Orphanet:703 {source="MONDO:equivalentTo"} xref: SCTID:77090002 {source="MONDO:equivalentTo", source="DOID:8506"} xref: UMLS:C0030805 {source="MONDO:equivalentTo", source="DOID:8506", source="Orphanet:703", source="Orphanet:703/e", source="NCIT:C84389"} is_a: EFO:0008598 {source="EFO:0007187", source="Orphanet:703"} ! autoimmune bullous skin disease property_value: exactMatch DOID:8506 property_value: exactMatch http://identifiers.org/mesh/D010391 property_value: exactMatch http://identifiers.org/snomedct/77090002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030805 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L12.0 property_value: exactMatch NCIT:C84389 property_value: exactMatch Orphanet:703 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007188 name: Bunyaviridae infectious disease def: "A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Bunyaviridae viruses, which are transmitted_by arthropod vectors." [] def: "Virus diseases caused by the bunyaviridae." [MESH:D002044] synonym: "Bunyaviridae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Bunyaviridae disease or disorder" EXACT [] synonym: "Bunyaviridae infection" RELATED [MESH:D002044] synonym: "Bunyaviridae Infections" EXACT [] synonym: "Bunyaviridae infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Bunyaviridae infectious disease" EXACT [MONDO:0005686] synonym: "Bunyavirus infection" RELATED [MESH:D002044] synonym: "Bunyavirus infections" RELATED [MESH:D002044] synonym: "disease caused by Bunyaviridae" RELATED [] synonym: "disease caused by Bunyavirus" RELATED [] synonym: "disease due to Bunyaviridae" EXACT [] synonym: "disease due to Bunyavirus" RELATED [] synonym: "infections, Bunyaviridae" RELATED [MESH:D002044] synonym: "infections, Bunyavirus" RELATED [MESH:D002044] xref: DOID:1332 xref: MESH:D002044 {source="MONDO:equivalentTo", source="EFO:0007188"} xref: MeSH:D002044 xref: MONDO:0021641 xref: SCTID:105632002 {source="MONDO:equivalentTo"} is_a: MONDO:0100329 ! primary viral infectious disease property_value: exactMatch http://identifiers.org/mesh/D002044 property_value: exactMatch http://identifiers.org/snomedct/105632002 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007189 name: Caliciviridae infectious disease def: "A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Caliciviridae viruses." [] def: "Virus diseases caused by caliciviridae. They include hepatitis E; vesicular exanthema of swine; acute respiratory infections in felines, rabbit hemorrhagic disease, and some cases of gastroenteritis in humans." [MESH:D017250] synonym: "Caliciviridae infection" RELATED [MESH:D017250] synonym: "Caliciviridae Infections" EXACT [] synonym: "Caliciviridae infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Calicivirus infection" RELATED [MESH:D017250] synonym: "Calicivirus infections" RELATED [MESH:D017250] synonym: "infection, Caliciviridae" RELATED [MESH:D017250] synonym: "infection, Calicivirus" RELATED [MESH:D017250] synonym: "infections, Caliciviridae" RELATED [MESH:D017250] synonym: "infections, Calicivirus" RELATED [MESH:D017250] xref: DOID:4091 xref: MESH:D017250 {source="MONDO:equivalentTo", source="EFO:0007189"} xref: MeSH:D017250 xref: MONDO:0005687 is_a: MONDO:0100329 ! primary viral infectious disease property_value: exactMatch http://identifiers.org/mesh/D017250 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007190 name: campylobacteriosis def: "A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever." [] def: "Infections with bacteria of the genus campylobacter." [MESH:D002169] synonym: "(Campylobacter GIT infection (& [diarrhea] or [enteritis]) or (helicobacter gastritis)" EXACT [] synonym: "Campylobacter Infections" EXACT [] synonym: "campylobacteriosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Campylobacteriosis (disorder)" EXACT [] xref: DOID:13622 {source="EFO:0007190", source="MONDO:equivalentTo"} xref: MESH:D002169 {source="EFO:0007190", source="MONDO:equivalentTo", source="DOID:13622"} xref: MeSH:D002169 xref: MONDO:0005688 xref: SCTID:86500004 {source="MONDO:equivalentTo", source="DOID:13622"} xref: UMLS:C0006818 {source="MONDO:equivalentTo", source="DOID:13622"} is_a: EFO:1001463 {source="https://orcid.org/0000-0002-5316-1399"} ! gastroenteritis is_a: MONDO:0000314 {source="DOID:13622"} ! primary bacterial infectious disease is_a: MONDO:0043424 ! digestive system infectious disorder property_value: exactMatch DOID:13622 property_value: exactMatch http://identifiers.org/mesh/D002169 property_value: exactMatch http://identifiers.org/snomedct/86500004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006818 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007191 name: cannabis dependence def: "A drug dependence that involves the continued use of cannabis despite problems related to use of the substance." [] def: "Physical and psychological dependence on the drug cannabis." [NCIT:C34445] synonym: "Cannabis Abuse" EXACT [] synonym: "cannabis abuse" EXACT [MONDO:0004809] synonym: "Cannabis Dependence" EXACT [] synonym: "cannabis dependence" EXACT [] {comment="preferred label from MONDO"} synonym: "Cannabis-Related Disorder" EXACT [] synonym: "Hashish Abuse" EXACT [] synonym: "Marihuana Abuse" EXACT [] synonym: "marijuana abuse" EXACT [DOID:9505] synonym: "Marijuana Dependence" EXACT [] synonym: "marijuana dependence" EXACT [MONDO:0005353] xref: DOID:1849 {source="EFO:0007191", source="MONDO:equivalentTo", source="EFO:0004218"} xref: DOID:9505 {source="MONDO:equivalentTo", source="EFO:0004218"} xref: ICD9:304.3 {source="EFO:0004218", source="DOID:1849"} xref: ICD9:304.30 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:305.2 {source="DOID:9505", source="EFO:0004218"} xref: MedDRA:10007177 xref: MedDRA:10007178 xref: MedDRA:10007179 xref: MedDRA:10007180 xref: MedDRA:10007181 xref: MESH:D002189 {source="EFO:0007191", source="DOID:9505", source="MONDO:equivalentTo", source="DOID:1849"} xref: MeSH:D002189 xref: MONDO:0005689 xref: NCIT:C34445 {source="MONDO:equivalentTo", source="EFO:0004218", source="DOID:1849"} xref: NCIt:C34445 xref: SCTID:37344009 {source="DOID:9505", source="MONDO:equivalentTo", source="EFO:0004218"} xref: SCTID:85005007 {source="MONDO:equivalentTo", source="EFO:0004218", source="DOID:1849"} xref: SNOMEDCT:37344009 xref: SNOMEDCT:85005007 is_a: EFO:0003890 {source="DOID:1849/inferred", source="EFO:0004218", source="EFO:0004218/inferred", source="EFO:0007191", source="MONDO:Redundant", source="NCIT:C34445"} ! drug dependence property_value: exactMatch DOID:1849 property_value: exactMatch DOID:9505 property_value: exactMatch http://identifiers.org/mesh/D002189 property_value: exactMatch http://identifiers.org/snomedct/37344009 property_value: exactMatch http://identifiers.org/snomedct/85005007 property_value: exactMatch NCIT:C34445 property_value: excluded_subClassOf MONDO:0002491 {source="DOID:9505"} property_value: excluded_subClassOf MONDO:0004939 {source="DOID:1849"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007192 name: Caplan's syndrome def: "A combination of rheumatoid arthritis (RA) and pneumoconiosis that manifests as intrapulmonary nodules, which appear homogenous and well-defined on chest X-ray." [Wikipedia:Caplan%27s_syndrome] def: "A pneumoconiosis that results_in humans that also have rheumatoid arthritis." [] synonym: "Caplan Syndrome" EXACT [] synonym: "Caplan syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Caplan syndrome" EXACT [DOID:10326] synonym: "Caplan's disease" EXACT [DOID:10326] synonym: "Caplan's syndrome" RELATED [DOID:10326] synonym: "Caplans syndrome" EXACT [DOID:10326] synonym: "Rheumatoid pneumoconiosis" EXACT [] synonym: "rheumatoid pneumoconiosis" EXACT [DOID:10326] xref: DOID:10326 {source="MONDO:equivalentTo", source="EFO:0007192"} xref: MedDRA:10065917 xref: MESH:D002205 {source="DOID:10326", source="MONDO:equivalentTo", source="EFO:0007192"} xref: MeSH:D002205 xref: MONDO:0005690 xref: SCTID:398640008 {source="DOID:10326", source="MONDO:equivalentTo"} xref: UMLS:C0006915 {source="DOID:10326", source="MONDO:equivalentTo"} is_a: MONDO:0015926 {source="DOID:10326", source="EFO:0007192", source="MESH:D002205"} ! pneumoconiosis property_value: exactMatch DOID:10326 property_value: exactMatch http://identifiers.org/mesh/D002205 property_value: exactMatch http://identifiers.org/snomedct/398640008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006915 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007193 name: carbamoyl phosphate synthetase I deficiency disease def: "An amino acid metabolic disorder that involves accumulation of ammonia in the blood." [] def: "Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia." [Orphanet:147] subset: ordo_disease {source="Orphanet:147"} synonym: "carbamoyl phosphate synthetase 1 deficiency" RELATED [OMIM:237300] synonym: "carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to" RELATED [OMIM:237300] synonym: "carbamoyl phosphate synthetase deficiency" EXACT [NCIT:C84612] synonym: "carbamoyl phosphate synthetase I deficiency disease" EXACT [] {comment="preferred label from MONDO"} synonym: "carbamoyl phosphate synthetase I deficiency, hyperammonemia due to" RELATED [OMIM:237300] synonym: "carbamoyl-phosphate synthase" EXACT [NCIT:C84612] synonym: "Carbamoyl-Phosphate Synthase I Deficiency Disease" EXACT [] synonym: "carbamoyl-phosphate synthetase 1 deficiency" RELATED [Orphanet:147] synonym: "carbamoyl-phosphate synthetase deficiency" EXACT [Orphanet:147] synonym: "carbamoyl-phosphate synthetase I deficiency" EXACT [Orphanet:147] synonym: "carbamoylphosphate synthetase I deficiency" EXACT [OMIM:237300, OMIM:genemap2] synonym: "carbamyl phosphate synthetase (CPS) deficiency" RELATED [GARD:0007269] synonym: "CPS 1 deficiency" RELATED [OMIM:237300] synonym: "CPS I deficiency" EXACT [DOID:9280] synonym: "CPS1 deficiency" EXACT [Orphanet:147] synonym: "CPS1D" EXACT ABBREVIATION [Orphanet:147] synonym: "deficiency disease" EXACT [NCIT:C84612] synonym: "hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency" RELATED [GARD:0007269] xref: DOID:9280 {source="EFO:0007193", source="MONDO:equivalentTo"} xref: MedDRA:10058297 {source="Orphanet:147", source="Orphanet:147/e"} xref: MESH:D020165 {source="DOID:9280", source="EFO:0007193", source="MONDO:equivalentTo"} xref: MeSH:D020165 xref: MONDO:0009376 xref: NCIT:C84612 {source="DOID:9280", source="MONDO:equivalentTo"} xref: OMIM:237300 {source="Orphanet:147", source="DOID:9280", source="MONDO:equivalentTo", source="Orphanet:147/e"} xref: Orphanet:147 {source="OMIM:237300", source="MONDO:equivalentTo"} xref: SCTID:62522004 {source="DOID:9280", source="MONDO:equivalentTo"} is_a: MONDO:0800153 {source="PMID:33340416"} ! urea cycle disorder or inherited hyperammonemia property_value: closeMatch http://identifiers.org/meddra/10058297 property_value: exactMatch DOID:9280 property_value: exactMatch http://identifiers.org/mesh/D020165 property_value: exactMatch http://identifiers.org/snomedct/62522004 property_value: exactMatch https://omim.org/entry/237300 property_value: exactMatch NCIT:C84612 property_value: exactMatch Orphanet:147 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: EFO:0007194 name: Cardiovirus infectious disease def: "A Picornaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Cardiovirus." [] def: "Infections caused by viruses of the genus cardiovirus, family picornaviridae." [MESH:D018188] synonym: "Cardiovirus infection" RELATED [MESH:D018188] synonym: "Cardiovirus Infections" EXACT [] synonym: "cardiovirus infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "infection, Cardiovirus" RELATED [MESH:D018188] synonym: "infections, Cardiovirus" RELATED [MESH:D018188] xref: DOID:3667 xref: MESH:D018188 {source="MONDO:equivalentTo", source="EFO:0007194"} xref: MeSH:D018188 xref: MONDO:0005691 xref: UMLS:C0206617 {source="MONDO:equivalentTo"} is_a: EFO:0007438 ! Picornaviridae infectious disease property_value: exactMatch http://identifiers.org/mesh/D018188 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206617 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007195 name: cat-scratch disease def: "A bartonellosis that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain." [] def: "Cat scratch disease is an infectious illness caused by the bacteria bartonella (Bartonella henselae). It is believed to be transmitted by cat scratches, bites, or exposure to cat saliva. This self-limiting infectious diseaseis characterized by a bump or blister at the site of the bite or scratch and swelling and pain in the lymph nodes. Other features may include fatigue, headache, achiness, and fever. Although cat-scratch disease usually subsides without treatment, antibiotic and/or antimicrobial therapy may help speed recovery." [https://rarediseases.info.nih.gov/diseases/27/cat-scratch-disease] subset: gard_rare {source="GARD:0000027"} subset: ordo_disease {source="Orphanet:50839"} synonym: "bartonellosis due to Bartonella henselae infection" EXACT [Orphanet:50839] synonym: "benign lymphoreticulosis" EXACT [DOID:11258] synonym: "Cat scratch disease" RELATED [GARD:0000027] synonym: "cat scratch fever" EXACT [DOID:11258] synonym: "Cat-Scratch Disease" EXACT [] synonym: "cat-scratch disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Cat-scratch fever" EXACT [NCIT:C84620] synonym: "Debre's Syndrome" EXACT [] synonym: "debre's syndrome" EXACT [DOID:11258] synonym: "Debre-Mollaret Syndrome" EXACT [] synonym: "debre-Mollaret syndrome" EXACT [DOID:11258] synonym: "Foshay-Mollaret Cat Scratch Fever" EXACT [] synonym: "Foshay-Mollaret Cat scratch fever" EXACT [DOID:11258] xref: DOID:11258 {source="MONDO:equivalentTo", source="EFO:0007195"} xref: ICD10CM:A28.1 {source="DOID:11258", source="Orphanet:50839/e", source="MONDO:equivalentTo", source="Orphanet:50839"} xref: ICD9:078.3 {source="DOID:11258", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10007729 {source="Orphanet:50839/e", source="Orphanet:50839"} xref: MedDRA:10007731 xref: MESH:D002372 {source="DOID:11258", source="Orphanet:50839/e", source="MONDO:equivalentTo", source="EFO:0007195", source="Orphanet:50839"} xref: MeSH:D002372 xref: MONDO:0005692 xref: NCIT:C84620 {source="DOID:11258", source="MONDO:equivalentTo"} xref: Orphanet:50839 {source="MONDO:equivalentTo"} xref: SCTID:79974007 {source="DOID:11258", source="MONDO:equivalentTo"} xref: UMLS:C0007361 {source="DOID:11258", source="Orphanet:50839/e", source="MONDO:equivalentTo", source="Orphanet:50839", source="NCIT:C84620"} xref: UMLS:CN205187 {source="MONDO:equivalentTo"} is_a: EFO:0007166 {source="DOID:11258", source="MESH:D002372", source="MONDO:Redundant"} ! bartonellosis is_a: MONDO:0002052 {source="MESH:D002372"} ! lymphadenitis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare property_value: closeMatch http://identifiers.org/meddra/10007729 property_value: exactMatch DOID:11258 property_value: exactMatch http://identifiers.org/mesh/D002372 property_value: exactMatch http://identifiers.org/snomedct/79974007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007361 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205187 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A28.1 property_value: exactMatch NCIT:C84620 property_value: exactMatch Orphanet:50839 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/27/cat-scratch-disease xsd:anyURI {source="GARD:0000027"} [Term] id: EFO:0007196 name: Cauda equina syndrome def: "A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord." [] def: "Cauda equina syndrome refers to a group of symptoms that occur when some of the nerves in the cauda equina (the bundle of nerves that spread out from the bottom of the spinal cord) become compressed and/or damaged. Signs and symptoms of this condition include pain, numbness, or tingling in the lower back and/or legs; ' foot drop '; problems with bowel and/or bladder control; and sexual dysfunction. Cauda equina syndrome may be caused by a herniated disk, tumor, infection, fracture, or spinal stenosis. Treatment usually targets the underlying cause of the condition and often includes surgery to remove the material that is pressing on the nerves. Physical therapy, occupational therapy, and/or other services may be required if symptoms persist following surgery." [https://rarediseases.info.nih.gov/diseases/10987/cauda-equina-syndrome] subset: gard_rare {source="GARD:0010987"} synonym: "cauda equina syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "cauda equina syndromic disease" EXACT [MONDO:patterns/location] synonym: "Polyradiculopathy" EXACT [] synonym: "syndromic disease of cauda equina" EXACT [MONDO:design_pattern] xref: DOID:11577 {source="MONDO:equivalentTo", source="EFO:0007196"} xref: ICD10CM:G83.4 {source="DOID:11577", source="MONDO:equivalentTo"} xref: ICD9:344.6 {source="DOID:11577"} xref: MedDRA:10007821 xref: MESH:D000077684 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: MESH:D011128 {source="DOID:11577", source="MONDO:relatedTo", source="EFO:0007196"} xref: MeSH:D011128 xref: MONDO:0005693 xref: NCIT:C35436 {source="DOID:11577", source="MONDO:equivalentTo"} xref: SCTID:192970008 {source="DOID:11577", source="MONDO:equivalentTo"} xref: UMLS:C0392548 {source="DOID:11577", source="MONDO:equivalentTo", source="NCIT:C35436"} is_a: EFO:0009387 {source="DOID:11577", source="NCIT:C35436/inferred"} ! peripheral nervous system disease is_a: MONDO:0002254 {source="DOID:11577", source="MONDO:Redundant", source="NCIT:C35436"} ! syndromic disease property_value: exactMatch DOID:11577 property_value: exactMatch http://identifiers.org/mesh/D000077684 property_value: exactMatch http://identifiers.org/snomedct/192970008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0392548 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G83.4 property_value: exactMatch NCIT:C35436 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10987/cauda-equina-syndrome xsd:anyURI {source="GARD:0010987"} [Term] id: EFO:0007197 name: cecal benign neoplasm def: "An intestinal benign neoplasm that is located_in the cecum." [] synonym: "benign cecal neoplasm" EXACT [] synonym: "benign cecum tumor" EXACT [] synonym: "benign neoplasm of the cecum" EXACT [] synonym: "benign tumor of cecum" EXACT [] synonym: "neoplasm of the cecum benign" EXACT [] xref: DOID:1517 xref: MeSH:D002430 xref: NCIt:C4772 is_a: EFO:0002422 ! benign neoplasm is_a: EFO:0009255 ! cecal neoplasm property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007198 name: central nervous system AIDS arteritis def: "A Human immunodeficiency virus infectious disease that results_in inflammation located_in wall of artery of the central nervous system, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2." [] def: "Inflammation of arteries in the central nervous system that occurs in patients with acquired immunodeficiency syndrome or aids-related opportunistic infections." [MESH:D020943] synonym: "AIDS Arteritis, Central Nervous System" EXACT [] synonym: "AIDS associated cerebral aneurysmal arteriopathy" EXACT [MESH:D020943] synonym: "AIDS-associated cerebral aneurysmal arteriopathy" EXACT [MESH:D020943] synonym: "central nervous system AIDS arteritis" EXACT [MESH:D020943] synonym: "central nervous system AIDS arteritis" EXACT [] {comment="preferred label from MONDO"} synonym: "cerebral aneurysmal arteriopathy, AIDS associated" EXACT [MESH:D020943] synonym: "cerebral aneurysmal arteriopathy, AIDS-associated" EXACT [MESH:D020943] synonym: "CNS Vasculitides, HIV-1-associated" EXACT [MESH:D020943] synonym: "CNS Vasculitides, HIV-associated" EXACT [MESH:D020943] synonym: "CNS vasculitis, HIV associated" EXACT [MESH:D020943] synonym: "CNS vasculitis, HIV-1-associated" EXACT [MESH:D020943] synonym: "CNS vasculitis, HIV-associated" EXACT [MESH:D020943] synonym: "HIV 1 associated CNS vasculitis" EXACT [MESH:D020943] synonym: "HIV associated vasculitis of the central nervous system" EXACT [MESH:D020943] synonym: "HIV-1-associated CNS Vasculitides" EXACT [MESH:D020943] synonym: "HIV-1-associated CNS vasculitis" EXACT [MESH:D020943] synonym: "HIV-associated CNS Vasculitides" EXACT [MESH:D020943] synonym: "HIV-associated CNS vasculitis" EXACT [MESH:D020943] synonym: "HIV-associated vasculitis of the central nervous system" EXACT [MESH:D020943] synonym: "Vasculitides, HIV-1-associated CNS" EXACT [MESH:D020943] synonym: "Vasculitides, HIV-associated CNS" EXACT [MESH:D020943] synonym: "vasculitis of the central nervous system, HIV associated" EXACT [MESH:D020943] synonym: "vasculitis of the central nervous system, HIV-associated" EXACT [MESH:D020943] synonym: "vasculitis, HIV-1-associated CNS" EXACT [MESH:D020943] synonym: "vasculitis, HIV-associated CNS" EXACT [MESH:D020943] xref: DOID:524 xref: MESH:D020943 {source="MONDO:equivalentTo", source="EFO:0007198"} xref: MeSH:D020943 xref: MONDO:0005695 xref: UMLS:C0752329 {source="MONDO:equivalentTo"} xref: UMLS:C0752330 {source="MONDO:equivalentTo"} xref: UMLS:C0752331 {source="MONDO:equivalentTo"} is_a: EFO:0000764 {source="EFO:0007198", source="MESH:D020943"} ! HIV infection is_a: MONDO:0003346 {source="MESH:D020943"} ! central nervous system vasculitis is_a: MONDO:0024318 ! viral infection of central nervous system property_value: exactMatch http://identifiers.org/mesh/D020943 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0752329 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0752330 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0752331 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007199 name: central nervous system tuberculosis def: "A well-circumscribed mass composed of tuberculous granulation tissue that may occur in the cerebral hemispheres, cerebellum, brain stem, or perimeningeal spaces. Multiple lesions are quite common. Management of intracranial manifestations vary with lesion site. Intracranial tuberculomas may be associated with seizures, focal neurologic deficits, and intracranial hypertension. Spinal cord tuberculomas may be associated with localized or radicular pain, weakness, sensory loss, and incontinence. Tuberculomas may arise as opportunistic infections, but also occur in immunocompetent individuals." [MESH:D016862] def: "An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord." [] comment: Tuberculosis of the brain, spinal cord, or meninges (TUBERCULOSIS, MENINGEAL), most often caused by MYCOBACTERIUM TUBERCULOSIS and rarely by MYCOBACTERIUM BOVIS. The infection may be limited to the nervous system or coexist in other organs (e.g., TUBERCULOSIS, PULMONARY). The organism tends to seed the meninges causing a diffuse meningitis and leads to the formation of TUBERCULOMA, which may occur within the brain, spinal cord, or perimeningeal spaces. Tuberculous involvement of the vertebral column (TUBERCULOSIS, SPINAL) may result in nerve root or spinal cord compression. (From Adams et al., Principles of Neurology, 6th ed, pp717-20) synonym: "central nervous system tuberculosis" EXACT [] {comment="preferred label from MONDO"} synonym: "central nervous system tuberculosis" EXACT [MONDO:patterns/location] synonym: "intracranial tuberculoma" EXACT [DOID:1638] synonym: "tuberculoma of brain" EXACT [DOID:1638] synonym: "Tuberculoma, Intracranial" EXACT [] synonym: "tuberculosis of central nervous system" EXACT [] synonym: "tuberculosis of meninges and central nervous system" EXACT [DOID:1638] synonym: "Tuberculosis of meninges and central nervous system (disorder)" EXACT [] synonym: "Tuberculosis, Central Nervous System" EXACT [] synonym: "tuberculous abscess of brain" EXACT [DOID:1638] xref: DOID:1638 {source="MONDO:equivalentTo", source="EFO:0007199"} xref: ICD10:A17 xref: ICD9:013.2 {source="DOID:1638"} xref: ICD9:013.20 {source="DOID:1638"} xref: ICD9:013.35 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10061391 xref: MeSH:D016862 xref: MeSH:D020306 xref: MONDO:0005696 xref: Orphanet:641396 {source="MONDO:equivalentTo"} xref: SCTID:186217006 {source="MONDO:equivalentTo"} xref: SNOMEDCT:10706006 xref: UMLS:C0275904 {source="MONDO:equivalentTo", source="Orphanet:641396"} is_a: EFO:1001456 ! central nervous system infection is_a: MONDO:0000368 {source="DOID:1638", source="MONDO:Redundant"} ! extrapulmonary tuberculosis property_value: exactMatch DOID:1638 property_value: exactMatch http://identifiers.org/snomedct/186217006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0275904 property_value: exactMatch Orphanet:641396 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007200 name: cerebral toxoplasmosis def: "A toxoplasmosis that occurs in patients with AIDS or weakened immune system, who develop the infection due to reactivation, present with ring-enhancing intracranial mass lesions or encephalitis. The symptoms include headache, altered mental status, seizures, coma, fever, motor or sensory loss, cranial nerve palsies, visual abnormalities, and focal seizures." [] def: "Infections of the brain caused by the protozoan toxoplasma gondii that primarily arise in individuals with immunologic deficiency syndromes (see also aids-related opportunistic infections). The infection may involve the brain diffusely or form discrete abscesses. Clinical manifestations include seizures, altered mentation, headache, focal neurologic deficits, and intracranial hypertension. (From Joynt, Clinical Neurology, 1998, Ch27, pp41-3)" [MESH:D016781] synonym: "cerebral toxoplasmosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Encephalitis due to acquired toxoplasmosis" EXACT [] synonym: "encephalitis due to acquired toxoplasmosis" RELATED [DOID:10551] synonym: "Meningoencephalitis due to acquired toxoplasmosis (disorder)" EXACT [] synonym: "Meningoencephalitis due to toxoplasmosis" EXACT [] synonym: "meningoencephalitis due to toxoplasmosis" RELATED [DOID:10551] synonym: "Toxoplasma encephalitis" EXACT [DOID:10551] synonym: "Toxoplasma encephalitis (disorder)" EXACT [] synonym: "Toxoplasmosis, Cerebral" EXACT [] xref: DOID:10551 {source="MONDO:equivalentObsolete", source="EFO:0007200"} xref: ICD9:130.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10057854 xref: MESH:D016781 {source="MONDO:equivalentTo", source="EFO:0007200"} xref: MeSH:D016781 xref: MONDO:0005697 xref: SCTID:192701001 {source="MONDO:equivalentTo"} is_a: EFO:0000540 ! immune system disease is_a: EFO:0007517 {source="https://orcid.org/0000-0001-5208-3432"} ! toxoplasmosis is_a: EFO:0009386 ! central nervous system disease property_value: exactMatch http://identifiers.org/mesh/D016781 property_value: exactMatch http://identifiers.org/snomedct/192701001 property_value: excluded_subClassOf MONDO:0005046 {source="EFO:0007200"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007201 name: cerebral ventricle cancer def: "A cerebrum cancer that is located_in the cerebral ventricles." [] def: "A neoplasm that involves a brain ventricle. It may be a primary neoplasm arising from a brain ventricle, a metastasis from a distant anatomic site, or an extension of an invasive neoplasm from an adjacent brain structure." [NCIT:C2937] subset: gard_rare {source="GARD:0006025"} synonym: "brain neoplasms, intraventricular" EXACT [NCIT:C2937] synonym: "brain ventricle cancer" EXACT [MONDO:patterns/location] synonym: "cancer of brain ventricle" EXACT [MONDO:patterns/cancer] synonym: "cerebral ventricle cancer" EXACT [] {comment="preferred label from MONDO"} synonym: "cerebral ventricle neoplasm" EXACT [DOID:3541] synonym: "Cerebral Ventricle Neoplasms" EXACT [] synonym: "intraventricular brain neoplasm" EXACT [NCIT:C2937] synonym: "intraventricular brain neoplasms" EXACT [NCIT:C2937] synonym: "intraventricular brain tumor" EXACT [NCIT:C2937] synonym: "intraventricular brain tumour" EXACT OMO:0003005 [] synonym: "intraventricular neoplasm of brain" EXACT [NCIT:C2937] synonym: "intraventricular neoplasm of the brain" EXACT [NCIT:C2937] synonym: "intraventricular neoplasms" EXACT [NCIT:C2937] synonym: "Intraventricular tumor of brain" EXACT [] synonym: "intraventricular tumor of brain" EXACT [DOID:3541, NCIT:C2937] synonym: "intraventricular tumor of the brain" EXACT [NCIT:C2937] synonym: "intraventricular tumour of brain" EXACT OMO:0003005 [] synonym: "intraventricular tumour of the brain" EXACT OMO:0003005 [] synonym: "malignant brain ventricle neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of brain ventricle" EXACT [MONDO:patterns/cancer] xref: DOID:3541 {source="MONDO:equivalentTo"} xref: ICD9:191.5 {source="DOID:3541"} xref: MESH:D002551 {source="DOID:3541", source="MONDO:equivalentTo"} xref: MeSH:D002551 xref: MONDO:0002682 xref: NCIT:C2937 {source="DOID:3541", source="MONDO:equivalentTo"} xref: SCTID:126958000 {source="DOID:3541", source="MONDO:equivalentTo"} is_a: MONDO:0001657 ! brain cancer property_value: exactMatch DOID:3541 property_value: exactMatch http://identifiers.org/mesh/D002551 property_value: exactMatch http://identifiers.org/snomedct/126958000 property_value: exactMatch NCIT:C2937 property_value: excluded_subClassOf MONDO:0002731 {source="DOID:3541"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6025/cerebral-ventricle-cancer xsd:anyURI {source="GARD:0006025"} [Term] id: EFO:0007202 name: cervical incompetence def: "A cervix disease that is characterized by the beginning of dilation and effacement of a pregnant woman's cervix before her pregnancy has reached term." [] def: "A clinical diagnosis presenting with painless cervical dilatation and spontaneous mid-trimester birth in recurrent pregnancies in the absence of spontaneous membrane rupture, bleeding or clinical chorioamnionitis." [NCIT:P378] synonym: "cervical incompetence" EXACT [] {comment="preferred label from MONDO"} synonym: "Uterine Cervical Incompetence" EXACT [] xref: DOID:9681 {source="EFO:0007202", source="MONDO:equivalentTo"} xref: ICD9:622.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9681"} xref: ICD9:654.50 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10008267 xref: MedDRA:10008270 xref: MedDRA:10008271 xref: MedDRA:10008272 xref: MedDRA:10008273 xref: MedDRA:10008274 xref: MESH:D002581 {source="EFO:0007202", source="MONDO:equivalentTo", source="DOID:9681"} xref: MeSH:D002581 xref: MONDO:0005698 xref: SCTID:17382005 {source="MONDO:equivalentTo", source="DOID:9681"} is_a: MONDO:0002256 {source="DOID:9681", source="MESH:D002581"} ! cervix disorder property_value: exactMatch DOID:9681 property_value: exactMatch http://identifiers.org/mesh/D002581 property_value: exactMatch http://identifiers.org/snomedct/17382005 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007203 name: cervicofacial actinomycosis def: "A form of actinomycosis characterized by slow-growing inflammatory lesions of the lymph nodes that drain the mouth (lumpy jaw), reddening of the overlying skin, and intraperitoneal abscesses." [MESH:D000197] def: "An actinomycosis that involves invasion and infiltration located_in head and located_in neck, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of abscesses following oral surgery or in patients with poor dental hygiene." [] synonym: "Actinomycosis, Cervicofacial" EXACT [] synonym: "cervicofacial actinomycosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Cervicofacial actinomycotic infection" EXACT [] synonym: "cervicofacial actinomycotic infection" RELATED [DOID:12633] synonym: "Lumpy jaw" EXACT [] synonym: "lumpy jaw" RELATED [DOID:12633] xref: DOID:12633 xref: ICD10CM:A42.2 {source="MONDO:equivalentTo"} xref: ICD9:039.3 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D000197 {source="EFO:0007203", source="MONDO:equivalentTo"} xref: MeSH:D000197 xref: MONDO:0005699 xref: NCIT:C34351 {source="MONDO:equivalentTo"} xref: SCTID:23014006 {source="MONDO:equivalentTo"} xref: UMLS:C0001264 {source="MONDO:equivalentTo"} is_a: EFO:0000524 ! head and neck disorder is_a: EFO:0007128 {source="MESH:D000197", source="NCIT:C34351"} ! actinomycosis property_value: exactMatch http://identifiers.org/mesh/D000197 property_value: exactMatch http://identifiers.org/snomedct/23014006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001264 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A42.2 property_value: exactMatch NCIT:C34351 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007204 name: chickenpox def: "A contagious childhood disorder caused by the varicella zoster virus. It is transmitted via respiratory secretions and contact with chickenpox blister contents. It presents with a vesicular skin rash, usually associated with fever, headache, and myalgias. The pruritic fluid-filled vesicles occur 10-21 days after exposure and last for 3-4 days. An additional 3-4 days of malaise follows before the affected individual feels better. An individual is contagious 1-2 days prior to the appearance of the blisters until all blisters are crusted over. Generally, healthy individuals recover without complications." [NCIT:C97132] def: "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters." [] synonym: "chicken pox" EXACT [NCIT:C97132] synonym: "chicken pox infection" EXACT [NCIT:C97132] synonym: "Chickenpox" EXACT [] synonym: "chickenpox" EXACT [] {comment="preferred label from MONDO"} synonym: "chickenpox" EXACT [NCIT:C97132] synonym: "Varicella" EXACT [NCIT:C97132] synonym: "varicella" EXACT [DOID:8659] xref: DOID:8659 {source="EFO:0007204", source="MONDO:equivalentTo"} xref: ICD10:B01 xref: ICD9:052 {source="DOID:8659"} xref: ICD9:052.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10008505 xref: MESH:D002644 {source="EFO:0007204", source="DOID:8659", source="MONDO:equivalentTo"} xref: MeSH:D002644 xref: MONDO:0005700 xref: NCIT:C97132 {source="DOID:8659", source="MONDO:equivalentTo"} xref: SCTID:38907003 {source="DOID:8659", source="MONDO:equivalentTo"} xref: UMLS:C0008049 {source="DOID:8659", source="MONDO:equivalentTo", source="NCIT:C97132"} is_a: EFO:0006509 {source="MONDO:Redundant", source="NCIT:C97132"} ! Varicella Zoster infection is_a: EFO:1000774 ! vesiculobullous skin disease is_a: MONDO:0024294 ! skin disorder caused by infection relationship: disease_has_feature EFO:1000697 {source="MONDO:Wikidata"} ! exanthem property_value: exactMatch DOID:8659 property_value: exactMatch http://identifiers.org/mesh/D002644 property_value: exactMatch http://identifiers.org/snomedct/38907003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008049 property_value: exactMatch NCIT:C97132 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007205 name: Chlamydia trachomatis infectious disease def: "A commensal Chlamydiaceae infectious disease that is caused by a member of the genus Chlamydia, specifically C. trachomatis." [] def: "An infection that is caused by Chlamydia trachomatis." [NCIT:C34463] synonym: "chlamydia" RELATED [DOID:11263] synonym: "Chlamydia Infections" EXACT [] synonym: "Chlamydia trachomatis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Chlamydia trachomatis disease or disorder" EXACT [] synonym: "Chlamydia trachomatis infectious disease" EXACT [DOID:11263] synonym: "chlamydia trachomatis infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "chlamydial disease" EXACT [DOID:11263] synonym: "Chlamydial Infection" EXACT [] synonym: "Chlamydial infection" EXACT [DOID:11263, NCIT:C34463] xref: DOID:11263 {source="EFO:0007205", source="MONDO:equivalentTo"} xref: ICD9:078.88 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:079.88 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:079.98 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D002690 {source="EFO:0007205", source="MONDO:relatedTo"} xref: MeSH:D002690 xref: MONDO:0005701 xref: NCIT:C34463 {source="MONDO:equivalentTo"} xref: NCIt:C34463 xref: SCTID:105629000 {source="MONDO:equivalentTo"} xref: SNOMEDCT:105629000 is_a: EFO:1000863 ! Chlamydophila infectious disease is_a: MONDO:0000315 {source="DOID:11263"} ! commensal bacterial infectious disease property_value: exactMatch DOID:11263 property_value: exactMatch http://identifiers.org/snomedct/105629000 property_value: exactMatch NCIT:C34463 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007206 name: choroid plexus cancer def: "A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain." [] def: "A malignant neoplasm involving the choroid plexus" [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of choroid plexus" EXACT [MONDO:patterns/cancer] synonym: "choroid plexus cancer" EXACT [MONDO:patterns/location] synonym: "choroid plexus cancer" EXACT [] {comment="preferred label from MONDO"} synonym: "choroid plexus neoplasm" BROAD [DOID:3540] synonym: "Choroid Plexus Neoplasms" EXACT [] synonym: "malignant choroid plexus neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4533] synonym: "malignant choroid plexus neoplasms" EXACT [NCIT:C4533] synonym: "malignant choroid plexus tumor" EXACT [NCIT:C4533] synonym: "malignant choroid plexus tumors" EXACT [NCIT:C4533] synonym: "malignant choroid plexus tumour" EXACT OMO:0003005 [] synonym: "malignant choroid plexus tumours" EXACT OMO:0003005 [] synonym: "malignant neoplasm of choroid plexus" EXACT [MONDO:patterns/cancer, NCIT:C4533] synonym: "malignant neoplasm of the choroid plexus" EXACT [NCIT:C4533] synonym: "malignant tumor of choroid plexus" EXACT [NCIT:C4533] synonym: "malignant tumor of the choroid plexus" EXACT [NCIT:C4533] synonym: "malignant tumour of choroid plexus" EXACT OMO:0003005 [] synonym: "malignant tumour of the choroid plexus" EXACT OMO:0003005 [] synonym: "tumor of choroid plexus" BROAD [DOID:3540] synonym: "tumor of choroid plexus (disorder)" EXACT [] synonym: "tumor of the Choroid Plexus" EXACT [] synonym: "tumour of choroid plexus" BROAD OMO:0003005 [] synonym: "tumour of the choroid plexus" BROAD OMO:0003005 [] xref: DOID:3540 {source="MONDO:equivalentTo"} xref: MeSH:D016545 xref: MONDO:0002681 xref: NCIT:C4533 {source="MONDO:equivalentTo"} is_a: EFO:0007201 ! cerebral ventricle cancer is_a: MONDO:0002095 ! vascular cancer is_a: MONDO:0016717 {source="NCIT:C4533"} ! choroid plexus neoplasm is_a: MONDO:0043218 ! neurovascular disorder property_value: exactMatch DOID:3540 property_value: exactMatch NCIT:C4533 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/16 xsd:anyURI [Term] id: EFO:0007207 name: chromoblastomycosis def: "A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection." [] def: "Chromomycosis is a chronic cutaneous and subcutaneous fungal infection, found mainly in subtropical and tropical areas (in soil and plant debris and transmitted by traumatic inoculation), and characterized clinically by slow growing, verrucous nodules, squamous plaques, or chronic limited lesions which are most commonly found on the lower limbs and which are characterized histologically by the presence of muriform cells. It is caused by dematiaceous fungi, with the main etiological agents being Fonsecaea pedrosoi, Phialophora verrucosa and Cladophialophora carrionii. Rarely, it can be caused by Rhinocladiella aquaspersa." [Orphanet:182] comment: Editor note: check cutaneous vs subcutaneous subset: ordo_disease {source="Orphanet:182"} synonym: "Chromoblastomycoses" RELATED [MESH:D002862] synonym: "Chromoblastomycosis" EXACT [] synonym: "chromoblastomycosis" EXACT [MONDO:0005702, Orphanet:182] synonym: "Chromomycoses" RELATED [MESH:D002862] synonym: "Chromomycosis" EXACT [DOID:1562] synonym: "chromomycosis" EXACT [MESH:D002862] synonym: "chromomycosis" EXACT [] {comment="preferred label from MONDO"} synonym: "dermatitis Verrucosa" RELATED [MESH:D002862] synonym: "mossy foot disease" EXACT [DOID:1562] synonym: "Mossy foot disease (disorder)" EXACT [] xref: DOID:1562 {source="EFO:0007207", source="MONDO:equivalentTo"} xref: ICD9:117.2 {source="DOID:1562", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10008803 {source="Orphanet:182", source="Orphanet:182/e"} xref: MESH:D002862 {source="DOID:1562", source="EFO:0007207", source="MONDO:equivalentTo", source="Orphanet:182", source="Orphanet:182/e"} xref: MeSH:D002862 xref: MONDO:0015908 xref: Orphanet:182 {source="MONDO:equivalentTo"} xref: SCTID:187079000 {source="DOID:1562", source="MONDO:equivalentTo"} xref: UMLS:C0008582 {source="DOID:1562", source="MONDO:equivalentTo", source="Orphanet:182", source="Orphanet:182/e"} xref: UMLS:C3245522 {source="MONDO:equivalentTo"} is_a: MONDO:0000255 {source="DOID:1562", source="https://www.ncbi.nlm.nih.gov/books/NBK7902/"} ! subcutaneous mycosis is_a: MONDO:0002040 {source="MESH:D002862"} ! dermatomycosis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015578"} ! rare property_value: closeMatch http://identifiers.org/meddra/10008803 property_value: exactMatch DOID:1562 property_value: exactMatch http://identifiers.org/mesh/D002862 property_value: exactMatch http://identifiers.org/snomedct/187079000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008582 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3245522 property_value: exactMatch Orphanet:182 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007208 name: Churg-Strauss syndrome def: "A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding." [] def: "Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a systemic vasculitis of small-to medium vessels, characterized by asthma, transient pulmonary infiltrates, and hypereosinophilia." [Orphanet:183] subset: ordo_disease {source="Orphanet:183"} synonym: "allergic angiitides" EXACT [MESH:D015267] synonym: "allergic angiitides, granulomatous" EXACT [MESH:D015267] synonym: "allergic angiitis" EXACT [MESH:D015267] synonym: "allergic angiitis and granulomatosis" EXACT [MESH:D015267] synonym: "allergic angiitis, granulomatous" EXACT [MESH:D015267] synonym: "allergic granulomatoses" EXACT [MESH:D015267] synonym: "Allergic Granulomatosis" EXACT [] synonym: "allergic granulomatosis" EXACT [MESH:D015267, NCIT:C34481] synonym: "allergic granulomatosis angiitis" EXACT [DOID:3049] synonym: "Allergic granulomatosis angiitis (disorder)" EXACT [] synonym: "allergic granulomatous and angiitis" EXACT [MESH:D015267] synonym: "allergic granulomatous Angiitides" EXACT [MESH:D015267] synonym: "Allergic Granulomatous Angiitis" EXACT [] synonym: "allergic granulomatous angiitis" EXACT [DOID:3049, MESH:D015267, NCIT:C34481] synonym: "angiitides, allergic" EXACT [MESH:D015267] synonym: "angiitides, allergic granulomatous" EXACT [MESH:D015267] synonym: "angiitides, granulomatous allergic" EXACT [MESH:D015267] synonym: "angiitis, allergic" EXACT [MESH:D015267] synonym: "angiitis, allergic granulomatous" EXACT [MESH:D015267] synonym: "angiitis, granulomatous allergic" EXACT [MESH:D015267] synonym: "Churg Strauss syndrome" EXACT [MESH:D015267] synonym: "Churg-Strauss Syndrome" EXACT [] synonym: "Churg-Strauss syndrome" EXACT [MONDO:0005703, NCIT:C34481, Orphanet:183] synonym: "Churg-Strauss vasculitis" EXACT [DOID:3049, MESH:D015267] synonym: "CSS" EXACT ABBREVIATION [https://orcid.org/0000-0002-8719-7760] synonym: "EGPA" EXACT ABBREVIATION [Orphanet:183] synonym: "Eosinophilic Granulomatosis with Polyangiitis" EXACT [] synonym: "eosinophilic granulomatosis with polyangiitis" EXACT [] {comment="preferred label from MONDO"} synonym: "eosinophilic granulomatous Vasculitides" EXACT [MESH:D015267] synonym: "eosinophilic granulomatous vasculitis" EXACT [MESH:D015267] synonym: "granulomatoses, allergic" EXACT [MESH:D015267] synonym: "granulomatosis, allergic" EXACT [MESH:D015267] synonym: "granulomatous allergic Angiitides" EXACT [MESH:D015267] synonym: "Granulomatous allergic angiitis" EXACT [] synonym: "granulomatous allergic angiitis" EXACT [MESH:D015267, Orphanet:183] synonym: "granulomatous angiitides, allergic" EXACT [MESH:D015267] synonym: "granulomatous angiitis, allergic" EXACT [MESH:D015267] synonym: "granulomatous vasculitides, eosinophilic" EXACT [MESH:D015267] synonym: "granulomatous vasculitis, eosinophilic" EXACT [MESH:D015267] synonym: "Polyarteritis with lung involvement" EXACT [] synonym: "syndrome, Churg-Strauss" EXACT [MESH:D015267] synonym: "vasculitides, eosinophilic granulomatous" EXACT [MESH:D015267] synonym: "vasculitis, Churg Strauss" EXACT [MESH:D015267] synonym: "vasculitis, Churg-Strauss" EXACT [MESH:D015267] synonym: "vasculitis, eosinophilic granulomatous" EXACT [MESH:D015267] xref: DOID:3049 {source="MONDO:equivalentTo", source="EFO:0007208"} xref: MedDRA:10048594 {source="Orphanet:183", source="Orphanet:183/e"} xref: MESH:D015267 {source="DOID:3049", source="MONDO:equivalentTo", source="EFO:0007208", source="Orphanet:183", source="Orphanet:183/e"} xref: MeSH:D015267 xref: MONDO:0015943 xref: NCIT:C34481 {source="DOID:3049", source="MONDO:equivalentTo"} xref: NCIt:C34481 xref: ORDO:183 xref: Orphanet:183 {source="MONDO:equivalentTo"} xref: SCTID:82275008 {source="DOID:3049", source="MONDO:equivalentTo"} xref: UMLS:C0008728 {source="NCIT:C34481", source="DOID:3049", source="MONDO:equivalentTo", source="Orphanet:183", source="Orphanet:183/e"} is_a: EFO:0003777 ! heart disease is_a: EFO:0003818 ! lung disease is_a: EFO:0005297 {source="https://github.com/monarch-initiative/mondo/issues/1214"} ! Granulomatosis with Polyangiitis is_a: EFO:0009386 ! central nervous system disease is_a: MONDO:0002254 {source="NCIT:C34481"} ! syndromic disease property_value: closeMatch http://identifiers.org/meddra/10048594 property_value: exactMatch DOID:3049 property_value: exactMatch http://identifiers.org/mesh/D015267 property_value: exactMatch http://identifiers.org/snomedct/82275008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008728 property_value: exactMatch NCIT:C34481 property_value: exactMatch Orphanet:183 property_value: excluded_subClassOf MONDO:0016177 {source="Orphanet:183"} property_value: excluded_subClassOf MONDO:0017952 {source="Orphanet:183"} property_value: excluded_subClassOf MONDO:0019724 {source="Orphanet:183"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5261 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5625 xsd:anyURI [Term] id: EFO:0007209 name: Ciliophora infectious disease def: "An Alveolata infectious disease that involves infection caused by the members of the phylum Ciliophora, which are characterized by the presence of hair-like organelles called cilia." [] def: "Infections with protozoa of the phylum ciliophora." [MESH:D016770] synonym: "Ciliophora caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Ciliophora disease or disorder" EXACT [] synonym: "Ciliophora Infections" EXACT [] synonym: "Ciliophora infectious disease" EXACT [] {comment="preferred label from MONDO"} xref: DOID:2788 xref: MESH:D016770 {source="EFO:0007209", source="MONDO:equivalentTo"} xref: MeSH:D016770 xref: MONDO:0005704 xref: UMLS:C0085308 {source="MONDO:equivalentTo"} is_a: EFO:0005741 {source="EFO:0007209", source="MONDO:Redundant"} ! infectious disease property_value: exactMatch http://identifiers.org/mesh/D016770 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085308 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007210 name: clonorchiasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop." [] def: "Infection of the biliary passages with clonorchis sinensis, also called Opisthorchis sinensis. It may lead to inflammation of the biliary tract, proliferation of biliary epithelium, progressive portal fibrosis, and sometimes bile duct carcinoma. Extension to the liver may lead to fatty changes and cirrhosis. (From Dorland, 27th ed)" [MESH:D003003] synonym: "Clonorchiasis" EXACT [] synonym: "clonorchiasis" EXACT [] {comment="preferred label from MONDO"} synonym: "Clonorchiasis (disorder)" EXACT [] synonym: "Oriental liver fluke disease" EXACT [DOID:13767] xref: DOID:13767 {source="MONDO:equivalentTo", source="EFO:0007210"} xref: ICD10CM:B66.1 {source="DOID:13767", source="MONDO:equivalentTo"} xref: ICD9:121.1 {source="DOID:13767", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10009344 xref: MESH:D003003 {source="DOID:13767", source="MONDO:equivalentTo", source="EFO:0007210"} xref: MeSH:D003003 xref: MONDO:0005705 xref: SCTID:11938002 {source="DOID:13767", source="MONDO:equivalentTo"} xref: UMLS:C0009021 {source="DOID:13767", source="MONDO:equivalentTo"} is_a: EFO:0001421 ! liver disease is_a: EFO:1001342 {source="DOID:13767", source="ICD10CM:B66.1/inferred", source="MESH:D003003/inferred"} ! Helminthiasis property_value: exactMatch DOID:13767 property_value: exactMatch http://identifiers.org/mesh/D003003 property_value: exactMatch http://identifiers.org/snomedct/11938002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009021 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B66.1 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007211 name: coccidioidomycosis def: "A fungal infection caused by Coccidioides immitis. Affected individuals usually have mild flu-like symptoms. However, pneumonia and systemic involvement with the formation of abscesses may develop as complications of the disease." [NCIT:P378] def: "A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules." [] subset: ordo_disease {source="Orphanet:228123"} synonym: "California disease" EXACT [Orphanet:228123] synonym: "Coccidioides immitis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Coccidioides immitis disease or disorder" EXACT [] synonym: "Coccidioides immitis infectious disease" EXACT [] synonym: "Coccidioides infection" EXACT [Orphanet:228123] synonym: "Coccidioidomycosis" EXACT [] synonym: "coccidioidomycosis" EXACT [] {comment="preferred label from MONDO"} synonym: "desert fever" EXACT [Orphanet:228123] synonym: "desert rheumatism" EXACT [Orphanet:228123] synonym: "primary extrapulmonary coccidioidomycosis" EXACT [DOID:13450] synonym: "primary extrapulmonary coccidioidomycosis (disorder)" EXACT [] synonym: "San Joaquin valley fever" EXACT [Orphanet:228123] synonym: "Valley fever" EXACT [Orphanet:228123] xref: DOID:13450 {source="MONDO:equivalentTo", source="EFO:0007211"} xref: ICD10CM:B38 {source="MONDO:equivalentTo", source="DOID:13450"} xref: ICD9:114 {source="DOID:13450"} xref: ICD9:114.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:114.9 {source="DOID:13450"} xref: MedDRA:10009825 {source="Orphanet:228123/e", source="Orphanet:228123"} xref: MedDRA:10009826 xref: MESH:D003047 {source="Orphanet:228123/e", source="MONDO:equivalentTo", source="DOID:13450", source="Orphanet:228123", source="EFO:0007211"} xref: MeSH:D003047 xref: MONDO:0005706 xref: NCIT:C84642 {source="MONDO:equivalentTo", source="DOID:13450"} xref: Orphanet:228123 {source="MONDO:equivalentTo"} xref: SCTID:23247008 {source="MONDO:equivalentTo"} xref: UMLS:C0009186 {source="Orphanet:228123/e", source="MONDO:equivalentTo", source="DOID:13450", source="Orphanet:228123", source="NCIT:C84642"} xref: UMLS:C0700644 {source="MONDO:equivalentTo"} xref: UMLS:CN201384 {source="MONDO:equivalentTo"} is_a: EFO:0001067 {source="Orphanet:228123"} ! parasitic infection is_a: MONDO:0000308 {source="DOID:13450"} ! primary systemic mycosis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare property_value: closeMatch http://identifiers.org/meddra/10009825 property_value: exactMatch DOID:13450 property_value: exactMatch http://identifiers.org/mesh/D003047 property_value: exactMatch http://identifiers.org/snomedct/23247008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009186 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0700644 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201384 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B38 property_value: exactMatch NCIT:C84642 property_value: exactMatch Orphanet:228123 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007212 name: coccidiosis def: "A parasitic infection caused by Coccidia. It affects livestock, birds and humans. In humans the parasite infests the intestinal tract and may cause watery diarrhea, abdominal pain, fever, nausea and vomiting." [NCIT:P378] def: "A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection." [] synonym: "Coccidiosis" EXACT [] synonym: "coccidiosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Coccidiosis (& [intestinal])" EXACT [] synonym: "coccidiosis (& [intestinal])" EXACT [DOID:2113] synonym: "intestinal coccidiosis" RELATED [DOID:2113] xref: DOID:2113 {source="MONDO:equivalentTo", source="EFO:0007212"} xref: ICD9:007.2 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10009827 xref: MESH:D003048 {source="DOID:2113", source="MONDO:equivalentTo", source="EFO:0007212"} xref: MeSH:D003048 xref: MONDO:0005707 xref: NCIT:C34493 {source="DOID:2113", source="MONDO:equivalentTo"} xref: SCTID:62005008 {source="DOID:2113", source="MONDO:equivalentTo"} xref: UMLS:C0009187 {source="NCIT:C34493", source="DOID:2113", source="MONDO:equivalentTo"} is_a: EFO:0010282 ! gastrointestinal disease is_a: MONDO:0002428 {source="DOID:2113", source="MESH:D003048", source="NCIT:C34493"} ! protozoa infectious disease property_value: exactMatch DOID:2113 property_value: exactMatch http://identifiers.org/mesh/D003048 property_value: exactMatch http://identifiers.org/snomedct/62005008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009187 property_value: exactMatch NCIT:C34493 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007213 name: Colorado tick fever def: "A febrile illness characterized by chills, aches, vomiting, leukopenia, and sometimes encephalitis. It is caused by the colorado tick fever virus, a reovirus transmitted by the tick Dermacentor andersoni." [MESH:D003121] def: "A viral infectious disease that results_in infection, has_material_basis_in Colorado tick fever virus, which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever for 2-3 days, followed by an afebrile period of similar duration and then another 2-3 days of fever, has_symptom headache, has_symptom myalgia, and has_symptom fatigue." [] comment: Editor note: we follow Orphanet in classifying as enphalitis, but this is not always a feature subset: ordo_disease {source="Orphanet:83595"} synonym: "American mountain fever" EXACT [Orphanet:83595] synonym: "Colorado tick encephalitis" EXACT [Orphanet:83595] synonym: "Colorado Tick Fever" EXACT [] synonym: "Colorado tick fever" EXACT [] {comment="preferred label from MONDO"} synonym: "Colorado tick fever virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Colorado tick fever virus disease or disorder" EXACT [] synonym: "Colorado tick fever virus infectious disease" EXACT [] synonym: "Colorado tick-borne disease" EXACT [Orphanet:83595] synonym: "Mountain fever" EXACT [Orphanet:83595] synonym: "Mountain tick fever" EXACT [Orphanet:83595] synonym: "Tick fever, American mountain" EXACT [DOID:4885] xref: DOID:4885 {source="EFO:0007213", source="MONDO:equivalentTo"} xref: ICD10CM:A93.2 {source="Orphanet:83595/ntbt", source="Orphanet:83595", source="DOID:4885", source="MONDO:equivalentTo"} xref: ICD9:066.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10010022 {source="Orphanet:83595", source="Orphanet:83595/e"} xref: MedDRA:100MedDRA\:10022 xref: MESH:D003121 {source="EFO:0007213", source="Orphanet:83595", source="DOID:4885", source="MONDO:equivalentTo", source="Orphanet:83595/e"} xref: MeSH:D003121 xref: MONDO:0005708 xref: Orphanet:83595 {source="MONDO:equivalentTo"} xref: SCTID:6452009 {source="DOID:4885", source="MONDO:equivalentTo"} xref: UMLS:C0009400 {source="Orphanet:83595", source="DOID:4885", source="MONDO:equivalentTo", source="Orphanet:83595/e"} is_a: EFO:0007538 {source="MONDO:Redundant", source="Orphanet:83595"} ! viral encephalitis is_a: MONDO:0100120 ! vector-borne disease property_value: closeMatch http://identifiers.org/meddra/10010022 property_value: exactMatch DOID:4885 property_value: exactMatch http://identifiers.org/mesh/D003121 property_value: exactMatch http://identifiers.org/snomedct/6452009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009400 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A93.2 property_value: exactMatch Orphanet:83595 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007214 name: common cold def: "An inflammatory process affecting the nasal mucosa, usually caused by viruses (e.g., rhinovirus, adenovirus, parainfluenza virus, and coronavirus). It is characterized by chills, headaches, mucopurulent nasal discharge, coughing, and facial pain." [NCIT:P378] def: "An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus." [] synonym: "acute coryza" EXACT [DOID:10459] synonym: "acute Nasopharyngitis" EXACT [] synonym: "acute nasopharyngitis" EXACT [DOID:10459, NCIT:C34500] synonym: "acute nasopharyngitis [common cold]" EXACT [DOID:10459, ICD9CM:460] synonym: "acute rhinitis" EXACT [DOID:10459] synonym: "Acute viral rhinopharyngitis" EXACT [] synonym: "acute viral rhinopharyngitis" EXACT [DOID:10459] synonym: "Common Cold" EXACT [] synonym: "common cold" EXACT [] {comment="preferred label from MONDO"} synonym: "Nasopharyngitis - acute" EXACT [] synonym: "nasopharyngitis - acute" EXACT [DOID:10459] synonym: "Nasopharyngitis, acute" EXACT [] synonym: "nasopharyngitis, acute" EXACT [DOID:10459] synonym: "rhino-sinusitis" EXACT [DOID:10459] xref: DOID:10459 {source="EFO:0007214", source="MONDO:equivalentTo"} xref: ICD9:460 {source="DOID:10459", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10010106 xref: MESH:D003139 {source="EFO:0007214", source="DOID:10459", source="MONDO:equivalentTo"} xref: MeSH:D003139 xref: MONDO:0005709 xref: NCIT:C34500 {source="DOID:10459", source="MONDO:equivalentTo"} xref: SCTID:82272006 {source="DOID:10459", source="MONDO:equivalentTo"} xref: UMLS:C0009443 {source="DOID:10459", source="MONDO:equivalentTo", source="NCIT:C34500"} is_a: MONDO:0001040 {source="NCIT:C34500"} ! nasopharyngitis relationship: has_characteristic MONDO:0021137 ! not rare property_value: exactMatch DOID:10459 property_value: exactMatch http://identifiers.org/mesh/D003139 property_value: exactMatch http://identifiers.org/snomedct/82272006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009443 property_value: exactMatch NCIT:C34500 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007215 name: composite lymphoma def: "Coexistence of Hodgkin and non-Hodgkin lymphoma in the same anatomic site." [NCIT:C38661] subset: ordo_disease {source="Orphanet:168966"} synonym: "composite Hodgkin and non-Hodgkin lymphoma" EXACT [Orphanet:168966] synonym: "composite lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "composite lymphoma" EXACT [] {comment="preferred label from MONDO"} synonym: "composite lymphoma" EXACT [NCIT:C38661] xref: DOID:5820 {source="EFO:0007215", source="MONDO:equivalentTo"} xref: EFO:0007215 {source="MONDO:equivalentTo"} xref: ICDO:9596/3 {source="NCIT:C38661"} xref: MESH:D058617 {source="EFO:0007215", source="DOID:5820", source="MONDO:equivalentTo", source="Orphanet:168966", source="Orphanet:168966/e"} xref: MESH:D058617 {source="EFO:0007215", source="DOID:5820", source="MONDO:equivalentTo", source="ORDO:168966/e", source="Orphanet:168966"} xref: MONDO:0005710 xref: NCIT:C38661 {source="DOID:5820", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C38661 {source="DOID:5820", source="MONDO:equivalentTo", source="exact-label-match"} xref: Orphanet:168966 {source="MONDO:equivalentTo"} xref: UMLS:C0545080 {source="NCIT:C38661", source="DOID:5820", source="MONDO:equivalentTo", source="ORDO:168966/e", source="Orphanet:168966"} xref: UMLS:C0545080 {source="NCIT:C38661", source="DOID:5820", source="MONDO:equivalentTo", source="Orphanet:168966", source="Orphanet:168966/e"} xref: UMLS:C1266191 {source="MONDO:equivalentTo", source="ORDO:168966/e", source="Orphanet:168966"} xref: UMLS:C1266191 {source="MONDO:equivalentTo", source="Orphanet:168966", source="Orphanet:168966/e"} is_a: EFO:0000574 {source="DOID:5820/inferred", source="EFO:0007215", source="MESH:D058617", source="NCIT:C38661", source="Orphanet:168966"} ! lymphoma property_value: exactMatch DOID:5820 property_value: exactMatch DOID:5820 property_value: exactMatch http://identifiers.org/mesh/D058617 property_value: exactMatch http://identifiers.org/mesh/D058617 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0545080 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0545080 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266191 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266191 property_value: exactMatch NCIT:C38661 property_value: exactMatch NCIT:C38661 property_value: exactMatch Orphanet:168966 [Term] id: EFO:0007216 name: congenital diaphragmatic hernia def: "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs." [] def: "A posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality." [Orphanet:2140] subset: ordo_morphological_anomaly {source="Orphanet:2140"} synonym: "agenesis of hemidiaphragm" RELATED [GARD:0001481] synonym: "CDH" EXACT ABBREVIATION [Orphanet:2140] synonym: "congenital diaphragmatic defect" RELATED [GARD:0001481] synonym: "congenital diaphragmatic hernia" EXACT [] {comment="preferred label from MONDO"} synonym: "Diaphragmatic Hernia" EXACT [] synonym: "diaphragmatic hernia" BROAD [DOID:3827, NCIT:C34687] synonym: "Hernia, Hiatal" EXACT [] synonym: "unilateral agenesis of diaphragm" RELATED [GARD:0001481] xref: DOID:3827 {source="EFO:0007216", source="MONDO:equivalentTo"} xref: MedDRA:10010439 {source="Orphanet:2140/e", source="Orphanet:2140"} xref: MedDRA:10019914 xref: MedDRA:10020024 xref: MESH:D006551 {source="EFO:0007216", source="MONDO:relatedTo"} xref: MeSH:D006551 xref: MONDO:0005711 xref: NCIT:C98893 {source="MONDO:equivalentTo"} xref: OMIMPS:142340 {xref="MONDO:equivalentTo"} xref: Orphanet:2140 {source="MONDO:equivalentTo", source="DOID:3827"} xref: UMLS:C0235833 {source="Orphanet:2140/e", source="MONDO:equivalentTo", source="Orphanet:2140"} is_a: EFO:0007233 {source="DOID:3827", source="EFO:0007216", source="EFO:0007216/inferred"} ! diaphragm disease is_a: MONDO:0700223 ! hereditary skeletal muscle disorder relationship: disease_has_feature EFO:0008561 ! diaphragmatic hernia property_value: closeMatch http://identifiers.org/meddra/10010439 property_value: exactMatch DOID:3827 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0235833 property_value: exactMatch https://omim.org/phenotypicSeries/PS142340 property_value: exactMatch NCIT:C98893 property_value: exactMatch Orphanet:2140 property_value: excluded_subClassOf MONDO:0005087 {source="Orphanet:2140"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: EFO:0007217 name: congenital nystagmus def: "A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction." [] def: "Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with albinism and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)" [MESH:D020417] synonym: "congenital idiopathic nystagmus" EXACT [Orphanet:651] synonym: "congenital nystagmus" EXACT [] {comment="preferred label from MONDO"} synonym: "congenital pathologic nystagmus" EXACT [MONDO:patterns/congenital] synonym: "motor congenital nystagmus" EXACT [Orphanet:651] synonym: "nystagmus" BROAD [MONDO:ambiguous] synonym: "Nystagmus, Congenital" EXACT [] synonym: "nystagmus, congenital" EXACT [OMIMPS:310700] xref: DOID:9649 {source="EFO:0007217", source="MONDO:equivalentTo"} xref: HP:0000639 {source="MONDO:otherHierarchy"} xref: ICD10CM:H55.01 {source="DOID:9649", source="MONDO:equivalentTo"} xref: ICD9:379.51 {source="DOID:9649", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10010562 xref: MESH:D020417 {source="DOID:9649", source="EFO:0007217", source="MONDO:equivalentTo"} xref: MeSH:D020417 xref: MONDO:0005712 xref: OMIMPS:310700 {source="MONDO:equivalentTo"} xref: Orphanet:651 {source="DOID:9649", source="MONDO:equivalentObsolete"} xref: SCTID:64635004 {source="DOID:9649", source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0004843 {source="DOID:9649", source="MESH:D020417"} ! pathologic nystagmus intersection_of: MONDO:0004843 ! pathologic nystagmus intersection_of: has_characteristic MONDO:0021140 ! congenital property_value: exactMatch DOID:9649 property_value: exactMatch http://identifiers.org/mesh/D020417 property_value: exactMatch http://identifiers.org/snomedct/64635004 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H55.01 property_value: exactMatch https://omim.org/phenotypicSeries/PS310700 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: EFO:0007218 name: congenital rubella def: "A rubella that results_in infection has_material_basis_in Rubella virus, which is transmitted_by congenital method to the developing fetus of a pregnant woman who has contracted rubella during her first trimester." [] def: "An infectious embryofetopathy that may present in an infant as a result of maternal infection and subsequent fetal infection with rubella virus. CRS can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects." [Orphanet:290] subset: ordo_disease {source="Orphanet:290"} synonym: "Congenital Rubella" EXACT [] synonym: "congenital rubella" EXACT [MONDO:patterns/congenital] synonym: "Congenital Rubella syndrome" EXACT [] synonym: "Congenital rubella syndrome" EXACT [] synonym: "congenital rubella syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "congenital rubella syndrome" EXACT [NCIT:C34992] synonym: "CRS" EXACT ABBREVIATION [Orphanet:290] synonym: "fetal rubella syndrome" EXACT [Orphanet:290] synonym: "foetal rubella syndrome" EXACT OMO:0003005 [] synonym: "Gestational rubella syndrome (disorder)" EXACT [] synonym: "mother-to-child transmission of rubella syndrome" EXACT [Orphanet:290] synonym: "rubella congenital" EXACT [GARD:0004744] synonym: "Rubella Syndrome, Congenital" EXACT [] xref: DOID:9228 xref: ICD10CM:P35.0 {source="Orphanet:290", source="MONDO:equivalentTo", source="Orphanet:290/e"} xref: ICD9:771.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10010618 {source="Orphanet:290", source="Orphanet:290/e"} xref: MESH:D012410 {source="EFO:0007218", source="Orphanet:290", source="MONDO:equivalentTo", source="Orphanet:290/e"} xref: MeSH:D012410 xref: MONDO:0017361 xref: NCIT:C34992 {source="MONDO:equivalentTo"} xref: Orphanet:290 {source="MONDO:equivalentTo"} xref: SCTID:1857005 {source="MONDO:equivalentTo"} xref: UMLS:C0035921 {source="Orphanet:290", source="MONDO:equivalentTo", source="NCIT:C34992", source="Orphanet:290/e"} is_a: EFO:1002026 {source="NCIT:C34992"} ! rubella is_a: MONDO:0016511 {source="Orphanet:290"} ! infectious embryofetopathy intersection_of: EFO:1002026 ! rubella intersection_of: has_characteristic MONDO:0021140 ! congenital relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: closeMatch http://identifiers.org/meddra/10010618 property_value: exactMatch http://identifiers.org/mesh/D012410 property_value: exactMatch http://identifiers.org/snomedct/1857005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035921 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/P35.0 property_value: exactMatch NCIT:C34992 property_value: exactMatch Orphanet:290 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: EFO:0007219 name: congenital syphilis def: "A life-threatening bacterial infection of the newborn caused by Treponema pallidum. It is transmitted to the infant from a mother with syphilis through the placenta during pregnancy. Signs and symptoms include irritability, fever, failure to thrive, saddle nose, cutaneous rash, and pneumonia." [NCIT:P378] def: "A syphilis that results_in a multisystem infection in the fetus via the placenta." [] subset: ordo_disease synonym: "congenital syphilis" EXACT [MONDO:patterns/congenital] synonym: "congenital syphilis" EXACT [] {comment="preferred label from MONDO"} synonym: "mother-to-child transmission of syphilis" EXACT [Orphanet:499009] synonym: "MTCT of syphilis" EXACT [Orphanet:499009] synonym: "Syphilis, Congenital" EXACT [] xref: DOID:9856 {source="MONDO:equivalentTo", source="EFO:0007219"} xref: ICD10CM:A50 {source="DOID:9856", source="MONDO:equivalentTo"} xref: ICD9:090 {source="DOID:9856"} xref: ICD9:090.9 {source="DOID:9856", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10010641 xref: MedDRA:10010642 xref: MESH:D013590 {source="DOID:9856", source="MONDO:equivalentTo", source="EFO:0007219"} xref: MeSH:D013590 xref: MONDO:0005714 xref: NCIT:C84649 {source="DOID:9856", source="MONDO:equivalentTo"} xref: Orphanet:499009 {source="MONDO:equivalentTo"} xref: SCTID:35742006 {source="DOID:9856", source="MONDO:equivalentTo"} xref: UMLS:C0039131 {source="DOID:9856", source="NCIT:C84649", source="MONDO:equivalentTo"} is_a: EFO:0007504 {source="DOID:9856", source="EFO:0007219", source="MESH:D013590", source="NCIT:C84649"} ! syphilis is_a: MONDO:0016511 {source="Orphanet:499009"} ! infectious embryofetopathy intersection_of: EFO:0007504 ! syphilis intersection_of: has_characteristic MONDO:0021140 ! congenital relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch DOID:9856 property_value: exactMatch http://identifiers.org/mesh/D013590 property_value: exactMatch http://identifiers.org/snomedct/35742006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039131 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A50 property_value: exactMatch NCIT:C84649 property_value: exactMatch Orphanet:499009 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: EFO:0007220 name: congenital toxoplasmosis def: "A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur." [] def: "Toxoplasma infection that is present from birth." [NCIT:P378] subset: ordo_disease {source="Orphanet:858"} synonym: "Congenital toxoplasmosis" EXACT [] synonym: "congenital toxoplasmosis" EXACT [DOID:13336, MONDO:patterns/congenital] synonym: "congenital toxoplasmosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Congenital toxoplasmosis (disorder)" EXACT [] synonym: "mother-to-child transmission of toxoplasmosis" EXACT [Orphanet:858] synonym: "Toxoplasma embryofetopathy" EXACT [Orphanet:858] synonym: "Toxoplasma embryopathy" EXACT [Orphanet:858] synonym: "Toxoplasmosis - congen." EXACT [] synonym: "toxoplasmosis - congen." EXACT [DOID:13336] synonym: "Toxoplasmosis, Congenital" EXACT [] synonym: "toxoplasmosis, congenital" EXACT [NCIT:C50503] xref: DOID:13336 {source="MONDO:equivalentTo", source="EFO:0007220"} xref: ICD10CM:P37.1 {source="MONDO:equivalentTo", source="Orphanet:858", source="Orphanet:858/e", source="DOID:13336"} xref: ICD9:771.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10010652 {source="Orphanet:858", source="Orphanet:858/e"} xref: MESH:D014125 {source="MONDO:equivalentTo", source="Orphanet:858", source="Orphanet:858/e", source="EFO:0007220", source="DOID:13336"} xref: MeSH:D014125 xref: MONDO:0005715 xref: NCIT:C50503 {source="MONDO:equivalentTo", source="DOID:13336"} xref: Orphanet:858 {source="MONDO:equivalentTo"} xref: SCTID:73893000 {source="MONDO:equivalentTo", source="DOID:13336"} xref: UMLS:C0040560 {source="NCIT:C50503", source="MONDO:equivalentTo", source="Orphanet:858", source="Orphanet:858/e", source="DOID:13336"} is_a: EFO:0000540 ! immune system disease is_a: EFO:0007517 {source="DOID:13336", source="MESH:D014125", source="NCIT:C50503"} ! toxoplasmosis is_a: EFO:1001456 {source="MESH:D014125/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! central nervous system infection is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0016511 {source="Orphanet:858"} ! infectious embryofetopathy intersection_of: EFO:0007517 ! toxoplasmosis intersection_of: has_characteristic MONDO:0021140 ! congenital property_value: closeMatch http://identifiers.org/meddra/10010652 property_value: exactMatch DOID:13336 property_value: exactMatch http://identifiers.org/mesh/D014125 property_value: exactMatch http://identifiers.org/snomedct/73893000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040560 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/P37.1 property_value: exactMatch NCIT:C50503 property_value: exactMatch Orphanet:858 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: EFO:0007221 name: contagious pleuropneumonia def: "A mycoplasmal pneumonia that is a highly contagious infection usually associated with pleurisy of cattle, goats, and sheep, which is caused by bacteria of the genus Mycoplasma (especially M. mycoides)." [] def: "A pleuropneumonia of cattle and goats caused by species of mycoplasma." [MESH:D011002] synonym: "contagious pleuropneumonia" EXACT [] {comment="preferred label from MONDO"} synonym: "Pleuropneumonia, Contagious" EXACT [] xref: DOID:5460 xref: MESH:D011002 {source="MONDO:equivalentTo", source="EFO:0007221"} xref: MeSH:D011002 xref: MONDO:0005716 xref: UMLS:C0032243 {source="MONDO:equivalentTo"} is_a: EFO:0003106 {source="EFO:0007221"} ! pneumonia property_value: exactMatch http://identifiers.org/mesh/D011002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032243 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007222 name: contagious pustular dermatitis def: "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Orf virus, which is transmitted_by contact with infected or recently vaccinated animals, or transmitted_by fomites carrying the virus. The infection has_symptom lesions on the finger, hand, arm, face, and penis." [] def: "An infectious dermatitis of sheep and goats, affecting primarily the muzzle and lips. It is caused by a poxvirus and may be transmitted to humans." [MESH:D004474] synonym: "contagious pustular dermatitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Ecthyma contagiosum" EXACT [] synonym: "ecthyma contagiosum" EXACT [DOID:8771] synonym: "Ecthyma, Contagious" EXACT [] synonym: "ecthyma, Contagious" EXACT [DOID:8771, MTH:NOCODE] synonym: "Orf" EXACT [DOID:8771] synonym: "scabby mouth" EXACT [DOID:8771] synonym: "sheep pox" EXACT [DOID:8771] synonym: "thistle disease" EXACT [DOID:8771] xref: DOID:8771 {source="MONDO:equivalentTo", source="EFO:0007222"} xref: ICD9:051.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8771"} xref: MedDRA:10010806 xref: MESH:D004474 {source="MONDO:equivalentTo", source="DOID:8771", source="EFO:0007222"} xref: MeSH:D004474 xref: MONDO:0005717 xref: SCTID:74050005 {source="MONDO:equivalentTo", source="DOID:8771"} xref: UMLS:C0013570 {source="MONDO:equivalentTo", source="DOID:8771"} is_a: EFO:0000763 {source="DOID:8771", source="EFO:0007222", source="MESH:D004474/inferred"} ! viral disease property_value: exactMatch DOID:8771 property_value: exactMatch http://identifiers.org/mesh/D004474 property_value: exactMatch http://identifiers.org/snomedct/74050005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013570 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007223 name: Coronaviridae infectious disease def: "A Nidovirales infectious disease that results_in infection in animals and humans, has_material_basis_in Coronaviridae viruses, which is transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food." [] def: "Virus diseases caused by coronaviridae." [MESH:D003333] synonym: "Coronaviridae Infections" EXACT [] synonym: "Coronaviridae infectious disease" EXACT [] {comment="preferred label from MONDO"} xref: DOID:2948 xref: MeSH:D003333 xref: MONDO:0005718 xref: UMLS:C0010078 {source="MONDO:equivalentTo"} is_a: EFO:0007396 ! Nidovirales infectious disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010078 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007224 name: coronavirus infectious disease def: "A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in coronaviruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food." [] def: "Virus diseases caused by the coronavirus genus. Some specifics include transmissible enteritis of turkeys (enteritis, transmissible, of turkeys); feline infectious peritonitis; and transmissible gastroenteritis of swine (gastroenteritis, transmissible, of swine)." [MESH:D018352] synonym: "Coronavinae infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "coronavirus disease" EXACT [] synonym: "Coronavirus Infections" EXACT [] xref: DOID:2946 xref: MESH:D018352 {source="EFO:0007224", source="MONDO:equivalentTo"} xref: MeSH:D018352 xref: MONDO:0005719 is_a: EFO:0007223 ! Coronaviridae infectious disease property_value: exactMatch http://identifiers.org/mesh/D018352 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007225 name: cowpox def: "A mild, eruptive skin disease of milk cows caused by cowpox virus, with lesions occurring principally on the udder and teats. Human infection may occur while milking an infected animal." [MESH:D015605] def: "A viral infectious disease that results_in infection in rodents, cows, and humans, located_in skin, has_material_basis_in Cowpox virus, which is transmitted_by contact with an infected animal. The infection results_in_formation_of vesicopustular lesions on the hands or face." [] synonym: "Cowpox" EXACT [] synonym: "cowpox" EXACT [] {comment="preferred label from MONDO"} synonym: "yaba" EXACT [DOID:8956] xref: DOID:8956 {source="EFO:0007225", source="MONDO:equivalentTo"} xref: ICD10CM:B08.010 {source="DOID:8956", source="MONDO:equivalentTo"} xref: ICD9:051.01 {source="DOID:8956"} xref: MedDRA:10011242 xref: MESH:D015605 {source="EFO:0007225", source="DOID:8956", source="MONDO:equivalentTo"} xref: MeSH:D015605 xref: MONDO:0005720 xref: SCTID:70090004 {source="DOID:8956", source="MONDO:equivalentTo"} xref: UMLS:C0010232 {source="DOID:8956", source="MONDO:equivalentTo"} is_a: MONDO:0100329 ! primary viral infectious disease property_value: exactMatch DOID:8956 property_value: exactMatch http://identifiers.org/mesh/D015605 property_value: exactMatch http://identifiers.org/snomedct/70090004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010232 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B08.010 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007226 name: coxsackievirus infectious disease def: "A heterogeneous group of infections produced by coxsackieviruses, including herpangina, aseptic meningitis (meningitis, aseptic), a common-cold-like syndrome, a non-paralytic poliomyelitis-like syndrome, epidemic pleurodynia (pleurodynia, epidemic) and a serious myocarditis." [MESH:D003384] def: "An Enterovirus infectious disease that results_in infection, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom paralysis, has_symptom myositis, and has_symptom degeneration of neuronal tissue." [] synonym: "Coxsackievirus Infections" EXACT [] synonym: "coxsackievirus infectious disease" EXACT [] {comment="preferred label from MONDO"} xref: DOID:10545 {source="MONDO:equivalentObsolete"} xref: MESH:D003384 {source="EFO:0007226", source="MONDO:equivalentTo"} xref: MeSH:D003384 xref: MONDO:0005721 xref: UMLS:C0010246 {source="MONDO:equivalentTo"} is_a: EFO:0007255 ! Enterovirus infectious disease property_value: exactMatch http://identifiers.org/mesh/D003384 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010246 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3205 xsd:anyURI [Term] id: EFO:0007227 name: croup def: "A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus." [] def: "Acute upper respiratory airways infection that results in the swelling of the larynx. It is usually caused by parainfluenza viruses. Signs include a characteristic barking cough and stridor." [NCIT:C26735] synonym: "acute laryngotracheitis" RELATED [] synonym: "acute laryngotracheobronchitis" EXACT [DOID:9395, http://cmr.asm.org/content/16/2/242.full] synonym: "acute Obstructive Laryngitis" EXACT [] synonym: "acute obstructive laryngitis" EXACT [DOID:9395, NCIT:C26735] synonym: "Croup" EXACT [] synonym: "croup" EXACT [] {comment="preferred label from MONDO"} synonym: "Croup (disorder)" EXACT [] synonym: "Croup syndrome" EXACT [] synonym: "croup syndrome" EXACT [DOID:9395] synonym: "Laryngotracheobronchitis" EXACT [] xref: DOID:9395 {source="EFO:0007227", source="MONDO:equivalentTo"} xref: ICD9:464.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9395"} xref: MedDRA:10011415 xref: MESH:D003440 {source="EFO:0007227", source="MONDO:equivalentTo", source="DOID:9395"} xref: MeSH:D003440 xref: MONDO:0005722 xref: NCIT:C26735 {source="MONDO:equivalentTo", source="DOID:9395"} xref: SCTID:71186008 {source="MONDO:equivalentTo", source="DOID:9395"} xref: UMLS:C0010380 {source="MONDO:equivalentTo", source="DOID:9395", source="NCIT:C26735"} is_a: EFO:0009661 ! bronchitis is_a: MONDO:0000263 ! laryngotracheitis is_a: MONDO:0004777 {source="NCIT:C26735"} ! acute laryngitis property_value: exactMatch DOID:9395 property_value: exactMatch http://identifiers.org/mesh/D003440 property_value: exactMatch http://identifiers.org/snomedct/71186008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010380 property_value: exactMatch NCIT:C26735 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007228 name: cryptococcal meningitis def: "A cryptococcosis that results_in inflammation located_in meninges, has_material_basis_in Cryptococcus neoformans and has_symptom headache, has_symptom nausea, has_symptom staggering gait, has_symptom dementia, has_symptom blurred vision and has_symptom confusion." [] def: "Meningeal inflammation produced by cryptococcus neoformans, an encapsulated yeast that tends to infect individuals with acquired immunodeficiency syndrome and other immunocompromised states. The organism enters the body through the respiratory tract, but symptomatic infections are usually limited to the lungs and nervous system. The organism may also produce parenchymal brain lesions (torulomas). Clinically, the course is subacute and may feature headache; nausea; photophobia; focal neurologic deficits; seizures; cranial neuropathies; and hydrocephalus. (From Adams et al., Principles of Neurology, 6th ed, pp721-2)" [MESH:D016919] synonym: "Cryptococcal meningitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Cryptococcal meningitis (disorder)" EXACT [] synonym: "Cryptococcus neoformans caused infectious meningitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Cryptococcus neoformans infectious meningitis" EXACT [] synonym: "Meningitis, Cryptococcal" EXACT [] xref: DOID:0080159 {source="MONDO:equivalentTo"} xref: DOID:12052 xref: ICD9:321.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10011487 xref: MESH:D016919 {source="EFO:0007228", source="MONDO:equivalentTo", source="DOID:0080159"} xref: MeSH:D016919 xref: MONDO:0005723 xref: NCIT:C174113 {source="MONDO:equivalentTo"} xref: SCTID:14232007 {source="MONDO:equivalentTo"} is_a: EFO:0007229 ! cryptococcosis is_a: EFO:1000942 {source="DOID:0080159", source="MESH:D016919", source="MONDO:Redundant"} ! fungal meningitis property_value: exactMatch DOID:0080159 property_value: exactMatch http://identifiers.org/mesh/D016919 property_value: exactMatch http://identifiers.org/snomedct/14232007 property_value: exactMatch NCIT:C174113 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007229 name: cryptococcosis def: "An acute or chronic, localized or disseminated infection by Cryptococcus neoformans. Sites of involvement include the lungs, central nervous system and meninges, skin, and visceral organs.--2004" [NCIT:P378] def: "An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii." [] subset: gard_rare {source="GARD:0006218"} subset: ordo_disease {source="Orphanet:1546"} synonym: "Busse-Buschke's disease" EXACT [DOID:12053] synonym: "Cryptococcal infection" EXACT [DOID:12053] synonym: "cryptococcal infection" EXACT [] synonym: "Cryptococcosis" EXACT [] synonym: "cryptococcosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Cryptococcus neoformans caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Cryptococcus neoformans disease or disorder" EXACT [] synonym: "cryptococcus neoformans infection" RELATED [DOID:12053] synonym: "Cryptococcus neoformans infectious disease" EXACT [] synonym: "European cryptococcosis" EXACT [DOID:12053] synonym: "torula" EXACT [DOID:12053] synonym: "torulosis" EXACT [DOID:12053] xref: DOID:12053 {source="EFO:0007229", source="MONDO:equivalentTo"} xref: ICD10:B45 xref: ICD10CM:B45 {source="MONDO:equivalentTo", source="DOID:12053"} xref: ICD9:117.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12053"} xref: MedDRA:10011490 {source="Orphanet:1546", source="Orphanet:1546/e"} xref: MESH:D003453 {source="EFO:0007229", source="MONDO:equivalentTo", source="DOID:12053", source="Orphanet:1546", source="Orphanet:1546/e"} xref: MeSH:D003453 xref: MONDO:0005724 xref: NCIT:C2967 {source="MONDO:equivalentTo", source="DOID:12053"} xref: Orphanet:1546 {source="MONDO:equivalentTo"} xref: SCTID:42386007 {source="MONDO:equivalentTo", source="DOID:12053"} xref: UMLS:C0010414 {source="NCIT:C2967", source="MONDO:equivalentTo", source="DOID:12053", source="Orphanet:1546"} is_a: EFO:0001067 {source="Orphanet:1546"} ! parasitic infection is_a: MONDO:0002312 {source="DOID:12053", source="MONDO:Redundant"} ! opportunistic mycosis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare relationship: RO:0000056 EFO:0000544 ! participates_in infection property_value: closeMatch http://identifiers.org/meddra/10011490 property_value: exactMatch DOID:12053 property_value: exactMatch http://identifiers.org/mesh/D003453 property_value: exactMatch http://identifiers.org/snomedct/42386007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010414 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B45 property_value: exactMatch NCIT:C2967 property_value: exactMatch Orphanet:1546 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6218/cryptococcosis xsd:anyURI {source="GARD:0006218"} [Term] id: EFO:0007230 name: cyclosporiasis def: "A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue." [] def: "A protozoan infection that is caused by Cyclospora cayetanensis, which is most commonly acquired from contaminated food or water, and which is characterized by watery diarrhea and abdominal pain." [NCIT:C128409] subset: ordo_disease {source="Orphanet:210"} synonym: "Cyclospora caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Cyclospora cayetanensis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Cyclospora cayetanensis disease or disorder" EXACT [] synonym: "Cyclospora cayetanensis infectious disease" EXACT [] synonym: "Cyclospora disease or disorder" EXACT [] synonym: "Cyclospora infection" RELATED [GARD:0009528] synonym: "Cyclospora infectious disease" EXACT [] synonym: "Cyclosporiasis" EXACT [] synonym: "cyclosporiasis" EXACT [] {comment="preferred label from MONDO"} synonym: "cyclosporosis" EXACT [MONDO:0016212] synonym: "infection of intestine caused by Cyclospora cayetanensis" EXACT [] synonym: "intestinal infection caused by Cyclospora cayetanensis" EXACT [] xref: DOID:12750 {source="MONDO:equivalentTo", source="EFO:0007230"} xref: ICD10CM:A07.3 {source="Orphanet:210/ntbt", source="Orphanet:210", source="MONDO:directSiblingOf"} xref: ICD10CM:A07.4 {source="MONDO:equivalentTo", source="DOID:12750"} xref: ICD9:007.5 {source="DOID:12750"} xref: MedDRA:10066411 xref: MESH:D021866 {source="MONDO:equivalentTo", source="EFO:0007230", source="DOID:12750"} xref: MeSH:D021866 xref: MONDO:0005725 xref: NCIT:C128409 {source="MONDO:equivalentTo"} xref: Orphanet:210 {source="MONDO:equivalentTo"} xref: SCTID:240372001 {source="MONDO:equivalentTo", source="DOID:12750"} xref: SCTID:716860005 {source="MONDO:equivalentTo"} xref: UMLS:C0343398 {source="MONDO:equivalentTo", source="DOID:12750", source="NCIT:C128409"} xref: UMLS:C4274225 {source="MONDO:equivalentTo"} is_a: EFO:0007212 {source="DOID:12750", source="MESH:D021866"} ! coccidiosis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare property_value: exactMatch DOID:12750 property_value: exactMatch http://identifiers.org/mesh/D021866 property_value: exactMatch http://identifiers.org/snomedct/240372001 property_value: exactMatch http://identifiers.org/snomedct/716860005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343398 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274225 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A07.4 property_value: exactMatch NCIT:C128409 property_value: exactMatch Orphanet:210 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3694 xsd:anyURI [Term] id: EFO:0007231 name: cysticercosis def: "A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions." [] def: "Cysticercosis is a parasitic infectious disease characterized by cyst formation in the target tissue of Taenia solium (tapeworm) parasite larvae ingested via the feces of a human with a tapeworm (human-to-human fecal-oral transmission) leading to variable clinical manifestations in muscle, the brain, spinal cord, and eyes. Infection of muscle tissue is generally asymptomatic. Cyst development in the brain and spinal cord is known as neurocysticercosis (NCC) and may cause seizures and headache. NCC can follow a serious course and may be life-threatening. Severe cases of cysticercosis are treated with albendazole and anti-inflammatory drugs." [Orphanet:1560] subset: ordo_disease {source="Orphanet:1560"} synonym: "Cysticercosis" EXACT [] synonym: "cysticercosis" EXACT [] {comment="preferred label from MONDO"} synonym: "intestinal taenia solium infection" EXACT [DOID:10079] synonym: "neurocysticercosis" EXACT [] synonym: "neurocysticercosis" RELATED [DOID:10079] synonym: "Pork tapeworm infection" EXACT [] synonym: "pork tapeworm infection" EXACT [DOID:10079] synonym: "Tapeworm infection: [intestinal taenia solium] or [pork]" EXACT [] synonym: "tapeworm infection: [intestinal taenia solium] or [pork]" EXACT [DOID:10079] synonym: "tapeworm infection: intestinal taenia solum" EXACT [DOID:10079] synonym: "tapeworm infection: pork" EXACT [DOID:10079] synonym: "tenia solium infectious disease" EXACT [DOID:10079] xref: DOID:10079 {source="MONDO:equivalentTo", source="EFO:0007231"} xref: ICD10CM:B69 {source="MONDO:equivalentTo", source="DOID:10079"} xref: ICD9:123.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10079"} xref: MedDRA:10011775 {source="Orphanet:1560", source="Orphanet:1560/e"} xref: MESH:D003551 {source="Orphanet:1560", source="MONDO:equivalentTo", source="Orphanet:1560/e", source="EFO:0007231", source="DOID:10079"} xref: MeSH:D003551 xref: MONDO:0015484 xref: NCIT:C34520 {source="MONDO:equivalentTo", source="DOID:10079"} xref: Orphanet:1560 {source="MONDO:equivalentTo"} xref: SCTID:59051007 {source="MONDO:equivalentTo", source="DOID:10079"} xref: UMLS:C0010678 {source="Orphanet:1560", source="MONDO:equivalentTo", source="Orphanet:1560/e", source="NCIT:C34520", source="DOID:10079"} xref: UMLS:C0338437 {source="MONDO:equivalentTo"} is_a: EFO:1001433 {source="DOID:10079", source="MESH:D003551"} ! Taeniasis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare property_value: closeMatch http://identifiers.org/meddra/10011775 property_value: exactMatch DOID:10079 property_value: exactMatch http://identifiers.org/mesh/D003551 property_value: exactMatch http://identifiers.org/snomedct/59051007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010678 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0338437 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B69 property_value: exactMatch NCIT:C34520 property_value: exactMatch Orphanet:1560 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007232 name: cystoisosporiasis def: "A coccidiosis that involves infection of the epithelial cells of the small intestine with Cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss." [] def: "An intestinal infection with Isospora belli." [NCIT:C4076] subset: ordo_disease {source="Orphanet:472"} synonym: "Cystoisospora belli caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Cystoisospora belli disease or disorder" EXACT [] synonym: "Cystoisospora belli infectious disease" EXACT [] synonym: "cystoisosporiasis" EXACT [MONDO:0005727, Orphanet:472] synonym: "Infection by Isospora belli and Isospora hominis" EXACT [] synonym: "infection by Isospora belli and Isospora hominis" RELATED [DOID:2112] synonym: "Isosporiasis" EXACT [] synonym: "isosporiasis" EXACT [] {comment="preferred label from MONDO"} synonym: "Isosporosis" EXACT [DOID:2112] xref: DOID:2112 {source="MONDO:equivalentTo", source="EFO:0007232"} xref: ICD10CM:A07.3 {source="Orphanet:472/e", source="DOID:2112", source="MONDO:equivalentTo", source="Orphanet:472"} xref: MedDRA:10023076 {source="Orphanet:472/e", source="Orphanet:472"} xref: MESH:D021865 {source="Orphanet:472/e", source="DOID:2112", source="MONDO:equivalentTo", source="Orphanet:472", source="EFO:0007232"} xref: MeSH:D021865 xref: MONDO:0018769 xref: NCIT:C4076 {source="DOID:2112", source="MONDO:equivalentTo"} xref: Orphanet:472 {source="MONDO:equivalentTo"} xref: SCTID:371423007 {source="DOID:2112", source="MONDO:equivalentTo"} xref: UMLS:C0311386 {source="Orphanet:472/e", source="DOID:2112", source="NCIT:C4076", source="MONDO:equivalentTo", source="Orphanet:472"} is_a: EFO:0007212 {source="DOID:2112", source="MESH:D021865"} ! coccidiosis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare property_value: closeMatch http://identifiers.org/meddra/10023076 property_value: exactMatch DOID:2112 property_value: exactMatch http://identifiers.org/mesh/D021865 property_value: exactMatch http://identifiers.org/snomedct/371423007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0311386 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A07.3 property_value: exactMatch NCIT:C4076 property_value: exactMatch Orphanet:472 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007233 name: diaphragm disease def: "a disease in diaphragm" [] def: "A disease involving the diaphragm." [https://orcid.org/0000-0002-6601-2165] synonym: "diaphragm disease" EXACT [MONDO:patterns/location] synonym: "diaphragm disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "diaphragm disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "diaphragmatic disease" RELATED [] synonym: "diaphragmatic disorder" RELATED [] synonym: "disease of diaphragm" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of diaphragm" EXACT [] synonym: "disorder of diaphragm" EXACT [MONDO:patterns/location_top] xref: DOID:10481 {source="MONDO:equivalentTo"} xref: ICD9:519.4 {source="DOID:10481"} xref: MeSH:NoID xref: MONDO:0005728 xref: SCTID:48475001 {source="MONDO:equivalentTo", source="DOID:10481"} xref: UMLS:C0152097 {source="MONDO:equivalentTo", source="DOID:10481"} is_a: EFO:0000684 {source="MONDO:Redundant"} ! respiratory system disease is_a: EFO:0002970 ! muscular disease is_a: MONDO:0020120 {source="DOID:10481", source="EFO:0007233", source="MONDO:Entailed", source="MONDO:indirect"} ! skeletal muscle disorder property_value: exactMatch DOID:10481 property_value: exactMatch http://identifiers.org/snomedct/48475001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152097 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007234 name: dicrocoeliasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain." [] def: "Infection with flukes of the genus Dicrocoelium." [MESH:D004011] synonym: "Dicrocoeliasis" EXACT [] synonym: "dicrocoeliasis" EXACT [] {comment="preferred label from MONDO"} synonym: "Dicrocoeliasis (disorder)" EXACT [] synonym: "Dicrocoelium caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Dicrocoelium disease or disorder" EXACT [] synonym: "Dicrocoelium infectious disease" EXACT [] synonym: "disease due to Dicrocoeliidae" EXACT [DOID:1219] synonym: "disease due to Dicrocoeliidae (disorder)" EXACT [] xref: DOID:1219 {source="MONDO:equivalentTo", source="EFO:0007234"} xref: ICD9:121.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10080485 xref: MESH:D004011 {source="MONDO:equivalentTo", source="DOID:1219", source="EFO:0007234"} xref: MeSH:D004011 xref: MONDO:0005729 xref: SCTID:105668007 {source="MONDO:equivalentTo"} xref: UMLS:C0012102 {source="MONDO:equivalentTo", source="DOID:1219"} xref: UMLS:C1737210 {source="MONDO:equivalentTo"} is_a: EFO:0000405 ! digestive system disease is_a: EFO:1001342 {source="DOID:1219", source="MESH:D004011/inferred"} ! Helminthiasis property_value: exactMatch DOID:1219 property_value: exactMatch http://identifiers.org/mesh/D004011 property_value: exactMatch http://identifiers.org/snomedct/105668007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0012102 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1737210 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007235 name: Dictyocaulus infectious disease alt_id: MONDO:0025190 def: "A trichostrongyloidiasis that involves parasitic infection of the bronchial tree of horses, sheep, goats, deer, and cattle by nematodes of the genus Dictyocaulus." [] def: "Infection with nematodes of the genus dictyocaulus. In deer, cattle, sheep, and horses the bronchi are the site of infestation." [MESH:D004022] synonym: "Dictyocauliases" RELATED [MESH:D004022] synonym: "Dictyocauliasis" RELATED [MESH:D004022] synonym: "Dictyocaulus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Dictyocaulus disease or disorder" EXACT [] synonym: "Dictyocaulus infection" RELATED [MESH:D004022] synonym: "Dictyocaulus Infections" EXACT [] synonym: "Dictyocaulus infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Infection by Dictyocaulus (disorder)" EXACT [] synonym: "infection, Dictyocaulus" RELATED [MESH:D004022] synonym: "infections, Dictyocaulus" RELATED [MESH:D004022] xref: DOID:4754 xref: MESH:D004022 {source="EFO:0007235", source="MONDO:equivalentTo"} xref: MeSH:D004022 xref: MONDO:0005730 xref: UMLS:C0012118 {source="MONDO:equivalentTo"} is_a: MONDO:0700204 {source="MESH:D004022", source="MONDO:Redundant"} ! trichostrongyloidiasis, non-human animal property_value: exactMatch http://identifiers.org/mesh/D004022 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0012118 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: RO:0002175 NCBITaxon:9796 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} property_value: RO:0002175 NCBITaxon:9850 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} property_value: RO:0002175 NCBITaxon:9913 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} property_value: RO:0002175 NCBITaxon:9940 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} [Term] id: EFO:0007236 name: diffuse idiopathic skeletal hyperostosis def: "A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine." [] def: "This syndrome is characterized by the association of ankylosing vertebral hyperostosis with hyperkeratosis of the soles and palms." [Orphanet:2206] subset: ordo_malformation_syndrome {source="Orphanet:2206"} synonym: "Ankylosing vertebral hyperostosis" EXACT [] synonym: "ankylosing vertebral hyperostosis" EXACT [DOID:6652, ICD9CM:721.6] synonym: "ankylosing vertebral hyperostosis with tylosis" RELATED [OMIM:106400] synonym: "diffuse idiopathic skeletal hyperostosis" EXACT [OMIM:106400] synonym: "diffuse idiopathic skeletal hyperostosis" EXACT [] {comment="preferred label from MONDO"} synonym: "DISH" EXACT [] synonym: "dish" EXACT [DOID:6652] synonym: "disseminated idiopathic skeletal hyperostosis" EXACT [DOID:6652] synonym: "Disseminated idiopathic skeletal hyperostosis (disorder)" EXACT [] synonym: "Forestier disease" RELATED [DOID:6652] synonym: "Forestier's disease" EXACT [NCIT:C84671] synonym: "Hyperostosis, Diffuse Idiopathic Skeletal" EXACT [] xref: DOID:6652 {source="EFO:0007236", source="MONDO:equivalentTo"} xref: ICD9:721.6 {source="DOID:6652", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:733.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10080059 xref: MESH:D004057 {source="EFO:0007236", source="DOID:6652", source="MONDO:equivalentTo"} xref: MeSH:D004057 xref: MONDO:0007127 xref: NCIT:C84671 {source="DOID:6652", source="MONDO:equivalentTo"} xref: Orphanet:2206 {source="OMIM:106400", source="MONDO:equivalentTo"} xref: SCTID:31487001 {source="DOID:6652", source="MONDO:equivalentTo"} xref: UMLS:C0020498 {source="DOID:6652", source="OMIM:106400", source="MONDO:equivalentTo", source="NCIT:C84671"} is_a: MONDO:0002185 {source="MESH:D004057", source="NCIT:C84671"} ! hyperostosis is_a: MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin is_a: MONDO:0700007 ! idiopathic disease property_value: exactMatch DOID:6652 property_value: exactMatch http://identifiers.org/mesh/D004057 property_value: exactMatch http://identifiers.org/snomedct/31487001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020498 property_value: exactMatch NCIT:C84671 property_value: exactMatch Orphanet:2206 property_value: excluded_subClassOf MONDO:0002123 {source="DOID:6652"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007237 name: dipetalonemiasis def: "A filariasis that is a zoonotic infection caused by the nematode of the genus Dipetalonema, which is transmitted accidentally to humans from porcupines, beavers and other mammals by mosquitoes. The adult worms live subcutaneously or in body cavities or in the eyes of humans. Dead worms cause hypersensitivity necrosis with eosinophils, followed by granulomatous reaction and fibrosis." [] def: "A parasitic infection caused by genus of filarial worms called Dipetalonema. It produces microfilariae in the blood and body fluids." [NCIT:P378] comment: Editor note: check taxonomy; Acanthocheilonema perstans and Dipetalonema perstans appear to be synonyms subset: gard_rare synonym: "Acanthocheilonema perstans infection" RELATED [GARD:0000004] synonym: "Acanthocheilonemiasis" RELATED [GARD:0000004] synonym: "Dipetalonema infection" EXACT [NCIT:C34540] synonym: "Dipetalonema Infections" EXACT [] synonym: "Dipetalonema infections" EXACT [GARD:0000004, NCIT:C34540] synonym: "Dipetalonema infectious disease" EXACT [DOID:14422] synonym: "dipetalonema infectious disease" EXACT [] synonym: "dipetalonemiasis" EXACT [GARD:0000004] synonym: "dipetalonemiasis" EXACT [] {comment="preferred label from MONDO"} synonym: "infection by Dipetalonema" EXACT [DOID:14422] synonym: "Infection by Dipetalonema (disorder)" EXACT [] synonym: "Infection by Dipetalonema perstans" EXACT [] synonym: "infection by Dipetalonema perstans" EXACT [DOID:14422] synonym: "Infection by Dipetalonema perstans (disorder)" EXACT [] synonym: "Infection by Dipetalonema perstans (disorder) [Ambiguous]" EXACT [] synonym: "infection by Dipetalonema perstans (disorder) [ambiguous]" EXACT [DOID:14422] synonym: "Mansonella perstans" RELATED [GARD:0000004] synonym: "Mansonella perstans caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Mansonella perstans disease or disorder" EXACT [] synonym: "Mansonella perstans infectious disease" EXACT [] xref: DOID:14422 {source="EFO:0007237", source="MONDO:equivalentTo"} xref: ICD9:125.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14422"} xref: MedDRA:10013022 xref: MESH:D004154 {source="EFO:0007237", source="MONDO:equivalentTo", source="DOID:14422"} xref: MeSH:D004154 xref: MONDO:0005731 xref: NCIT:C34540 {source="MONDO:equivalentTo", source="DOID:14422"} xref: SCTID:15629006 {source="MONDO:equivalentTo", source="DOID:14422"} xref: UMLS:C0012517 {source="MONDO:equivalentTo", source="NCIT:C34540", source="DOID:14422"} is_a: EFO:0000701 ! skin disease is_a: EFO:0007468 ! Rhabditida infectious disease is_a: MONDO:0016075 {source="DOID:14422", source="MESH:D004154"} ! filariasis property_value: exactMatch DOID:14422 property_value: exactMatch http://identifiers.org/mesh/D004154 property_value: exactMatch http://identifiers.org/snomedct/15629006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0012517 property_value: exactMatch NCIT:C34540 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007238 name: diphyllobothriasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia." [] def: "Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anemia caused by vitamin B12 deficiency that resembles Biermer anemia (anemia characterized by abnormally large red blood cells)." [Orphanet:128] subset: ordo_disease {source="Orphanet:128"} synonym: "Bothriocephalosis" EXACT [Orphanet:128] synonym: "Diphyllobothriasis" EXACT [] synonym: "diphyllobothriasis" EXACT [] {comment="preferred label from MONDO"} synonym: "Diphyllobothrium caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Diphyllobothrium disease or disorder" EXACT [] synonym: "Diphyllobothrium infection" EXACT [DOID:10075] synonym: "Diphyllobothrium infectious disease" EXACT [] synonym: "fish tapeworm" EXACT [DOID:10075] xref: DOID:10075 {source="EFO:0007238", source="MONDO:equivalentTo"} xref: ICD10CM:B70.0 {source="Orphanet:128", source="MONDO:equivalentTo", source="Orphanet:128/e", source="DOID:10075"} xref: ICD9:123.4 {source="DOID:10075"} xref: MedDRA:10013029 {source="Orphanet:128", source="Orphanet:128/e"} xref: MedDRA:10013030 xref: MESH:D004169 {source="EFO:0007238", source="MONDO:equivalentTo", source="DOID:10075"} xref: MeSH:D004169 xref: MONDO:0015260 xref: NCIT:C128391 {source="MONDO:equivalentTo"} xref: Orphanet:128 {source="MONDO:equivalentTo"} xref: SCTID:187151009 {source="MONDO:equivalentTo", source="DOID:10075"} xref: UMLS:C0012561 {source="Orphanet:128", source="MONDO:equivalentTo", source="DOID:10075", source="NCIT:C128391"} is_a: MONDO:0042488 ! Cestode infectious disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare property_value: closeMatch http://identifiers.org/meddra/10013029 property_value: exactMatch DOID:10075 property_value: exactMatch http://identifiers.org/mesh/D004169 property_value: exactMatch http://identifiers.org/snomedct/187151009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0012561 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B70.0 property_value: exactMatch NCIT:C128391 property_value: exactMatch Orphanet:128 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007239 name: dirofilariasis def: "A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions." [] def: "Infection with nematodes of the genus dirofilaria, usually in animals, especially dogs, but occasionally in humans." [MESH:D004184] subset: gard_rare {source="GARD:0011908"} subset: ordo_disease {source="Orphanet:166291"} synonym: "Dirofilaria caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Dirofilaria disease or disorder" EXACT [] synonym: "Dirofilaria infectious disease" EXACT [DOID:1082] synonym: "Dirofilariasis" EXACT [] synonym: "dirofilariasis" EXACT [] {comment="preferred label from MONDO"} synonym: "infection by Dirofilaria" EXACT [DOID:1082] synonym: "Infection by Dirofilaria (disorder)" EXACT [] xref: DOID:1082 {source="EFO:0007239", source="MONDO:equivalentTo"} xref: ICD9:125.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10080290 xref: MESH:D004184 {source="Orphanet:166291/e", source="EFO:0007239", source="MONDO:equivalentTo", source="Orphanet:166291", source="DOID:1082"} xref: MeSH:D004184 xref: MONDO:0015636 xref: Orphanet:166291 {source="MONDO:equivalentTo"} xref: SCTID:73328005 {source="MONDO:equivalentTo", source="DOID:1082"} xref: UMLS:C0012602 {source="Orphanet:166291/e", source="MONDO:equivalentTo", source="Orphanet:166291", source="DOID:1082"} is_a: EFO:0000701 ! skin disease is_a: EFO:0007468 ! Rhabditida infectious disease is_a: MONDO:0016075 {source="DOID:1082", source="MESH:D004184", source="Orphanet:166291"} ! filariasis property_value: exactMatch DOID:1082 property_value: exactMatch http://identifiers.org/mesh/D004184 property_value: exactMatch http://identifiers.org/snomedct/73328005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0012602 property_value: exactMatch Orphanet:166291 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11908/dirofilariasis xsd:anyURI {source="GARD:0011908"} [Term] id: EFO:0007240 name: dourine def: "A disease of horses and donkeys caused by Trypanosoma equiperdum. The disease occurs in Africa, the Americas, and Asia." [MESH:D004313] def: "A trypanosomiasis that is a chronic, sexually transmitted disease of horses and other equids, caused by the protozoan parasite Trypanosoma equiperdum, which is characterized by swelling of the genitalia, cutaneous plaques and neurological signs." [] synonym: "Covering disease" EXACT [] synonym: "Dourine" EXACT [] synonym: "dourine" EXACT [] {comment="preferred label from MONDO"} synonym: "Infection by Trypanosoma equiperdum (disorder)" EXACT [] xref: DOID:13763 xref: MESH:D004313 {source="MONDO:equivalentTo", source="EFO:0007240"} xref: MeSH:D004313 xref: MONDO:0005734 xref: SCTID:15566009 {source="MONDO:equivalentTo"} xref: UMLS:C0013076 {source="MONDO:equivalentTo"} is_a: MONDO:0024950 ! horse disease property_value: exactMatch http://identifiers.org/mesh/D004313 property_value: exactMatch http://identifiers.org/snomedct/15566009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013076 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: RO:0002175 NCBITaxon:9793 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} property_value: RO:0002175 NCBITaxon:9796 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} [Term] id: EFO:0007241 name: dracunculiasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection." [] def: "Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the Dracunculus medinensis parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods (Cyclops spp., microcrustacea also called water fleas)." [Orphanet:231] subset: gard_rare {source="GARD:0006286"} subset: ordo_disease {source="Orphanet:231"} synonym: "Dracontiasis" EXACT [] synonym: "dracontiasis" EXACT [DOID:14418, ICD9CM:125.7] synonym: "Dracunculiasis" EXACT [] synonym: "dracunculiasis" EXACT [] {comment="preferred label from MONDO"} synonym: "Dracunculosis" EXACT [Orphanet:231] synonym: "Dracunculus medinensis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Dracunculus medinensis disease or disorder" EXACT [] synonym: "Dracunculus medinensis infectious disease" EXACT [] synonym: "Guinea worm disease" EXACT [Orphanet:231] synonym: "Guinea worm infection" RELATED [GARD:0006286] synonym: "GWD" RELATED ABBREVIATION [GARD:0006286] synonym: "Infection by Dracunculus medinensis" EXACT [] synonym: "infection by Dracunculus medinensis" EXACT [DOID:14418] synonym: "Infection by Dracunculus medinensis (disorder)" EXACT [] synonym: "Medina worm disease" EXACT [Orphanet:231] synonym: "medinensis" EXACT [Orphanet:231] synonym: "parasitic infection caused by Dracunculus medinensis" RELATED [GARD:0006286] xref: DOID:14418 {source="MONDO:equivalentTo", source="EFO:0007241"} xref: ICD10CM:B72 {source="DOID:14418", source="Orphanet:231/e", source="MONDO:equivalentTo", source="Orphanet:231"} xref: ICD9:125.7 {source="DOID:14418", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10013618 {source="Orphanet:231/e", source="Orphanet:231"} xref: MESH:D004320 {source="DOID:14418", source="Orphanet:231/e", source="MONDO:equivalentTo", source="EFO:0007241", source="Orphanet:231"} xref: MeSH:D004320 xref: MONDO:0016472 xref: NCIT:C84677 {source="DOID:14418", source="MONDO:equivalentTo"} xref: Orphanet:231 {source="MONDO:equivalentTo"} xref: SCTID:396334002 {source="DOID:14418", source="MONDO:equivalentTo"} xref: UMLS:C0013100 {source="NCIT:C84677", source="DOID:14418", source="Orphanet:231/e", source="MONDO:equivalentTo", source="Orphanet:231"} is_a: EFO:0007468 ! Rhabditida infectious disease is_a: MONDO:0016075 {source="Orphanet:231"} ! filariasis property_value: closeMatch http://identifiers.org/meddra/10013618 property_value: exactMatch DOID:14418 property_value: exactMatch http://identifiers.org/mesh/D004320 property_value: exactMatch http://identifiers.org/snomedct/396334002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013100 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B72 property_value: exactMatch NCIT:C84677 property_value: exactMatch Orphanet:231 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6286/dracunculiasis xsd:anyURI {source="GARD:0006286"} [Term] id: EFO:0007242 name: Eastern equine encephalitis def: "A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, which is transmitted_by Aedes, transmitted_by Coquillettidia, and transmitted_by Culex species of mosquitoes. The infection has_symptom sudden onset of headache, has_symptom high fever, has_symptom chills, has_symptom vomiting, has_symptom disorientation, has_symptom seizures, and has_symptom coma." [] def: "Eastern equine encephalitis (EEE) is an acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that is characterized by the onset of flulike symptoms including fever, chills, weakness, headache, vomiting, abdominal pain with diarrhea, myalgia, leucocytosis, and hematuria, rapidly progressing to diffuse central nervous system (CNS) involvement with confusion, somnolence, or even coma. Seizures, which may progress to status epilepticus and neurologic sequelae, cranial nerve palsies, and photophobia may occur. EEE is associated with a high rate of morbidity and mortality." [Orphanet:83594] subset: gard_rare {source="GARD:0010821"} subset: ordo_disease {source="Orphanet:83594"} synonym: "eastern equine encephalitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Eastern equine encephalomyelitis" EXACT [Orphanet:83594] synonym: "EEE" RELATED ABBREVIATION [DOID:10841] synonym: "Encephalomyelitis, Eastern Equine" EXACT [] synonym: "Neuroinvasive Eastern equine encephalitis virus infection" EXACT [DOID:10841] xref: DOID:10841 {source="MONDO:equivalentTo", source="EFO:0007242"} xref: ICD10CM:A83.2 {source="DOID:10841", source="Orphanet:83594", source="Orphanet:83594/ntbt", source="MONDO:equivalentTo"} xref: ICD9:062.2 {source="DOID:10841"} xref: MedDRA:10014060 xref: MedDRA:10014587 {source="Orphanet:83594", source="Orphanet:83594/e"} xref: MESH:D020242 {source="DOID:10841", source="MONDO:equivalentTo", source="EFO:0007242"} xref: MeSH:D020242 xref: MONDO:0005736 xref: Orphanet:83594 {source="MONDO:equivalentTo"} xref: UMLS:C0153065 {source="DOID:10841", source="Orphanet:83594", source="MONDO:equivalentTo"} is_a: EFO:0007538 {source="DOID:10841", source="Orphanet:83594"} ! viral encephalitis property_value: closeMatch http://identifiers.org/meddra/10014587 property_value: exactMatch DOID:10841 property_value: exactMatch http://identifiers.org/mesh/D020242 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153065 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A83.2 property_value: exactMatch Orphanet:83594 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10821/eastern-equine-encephalitis xsd:anyURI {source="GARD:0010821"} [Term] id: EFO:0007243 name: Ebola hemorrhagic fever def: "A viral hemorrhagic fever that is caused by the Ebola virus, which is transmitted by contact with infected animals or humans; it is characterized by high fever, unexplained bleeding, and a high mortality rate." [NCIT:P378] def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Zaire ebolavirus, has_material_basis_in Sudan ebolavirus, has_material_basis_in Cote d'Ivoire ebolavirus, or has_material_basis_in Bundibugyo ebolavirus, which are transmitted_by contact with the body fluids of an infected animal or person, transmitted_by contaminated fomites, or transmitted_by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding." [] subset: ordo_disease {source="Orphanet:319218"} synonym: "Ebola" EXACT [NCIT:C36171] synonym: "Ebola fever" EXACT [Orphanet:319218] synonym: "Ebola hemorrhagic fever" EXACT [] {comment="preferred label from MONDO"} synonym: "Ebola virus disease" EXACT [DOID:4325, Orphanet:319218] synonym: "Ebolavirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Ebolavirus disease or disorder" EXACT [] synonym: "Ebolavirus infectious disease" EXACT [] synonym: "EHF" EXACT ABBREVIATION [Orphanet:319218] synonym: "Hemorrhagic Fever, Ebola" EXACT [] xref: DOID:4325 {source="MONDO:equivalentTo", source="EFO:0007243"} xref: MedDRA:10014071 {source="Orphanet:319218", source="Orphanet:319218/e"} xref: MedDRA:10055245 xref: MESH:D019142 {source="DOID:4325", source="MONDO:equivalentTo", source="EFO:0007243"} xref: MeSH:D019142 xref: MONDO:0005737 xref: NCIT:C36171 {source="DOID:4325", source="MONDO:equivalentTo"} xref: Orphanet:319218 {source="MONDO:equivalentTo"} xref: SCTID:37109004 {source="DOID:4325", source="MONDO:equivalentTo"} xref: UMLS:C0282687 {source="Orphanet:319218", source="DOID:4325", source="MONDO:equivalentTo", source="Orphanet:319218/e", source="NCIT:C36171"} is_a: EFO:0007273 ! Filoviridae infectious disease is_a: MONDO:0018087 {source="MESH:D019142", source="NCIT:C36171", source="Orphanet:319218"} ! viral hemorrhagic fever relationship: disease_has_feature EFO:0009450 {source="MONDO:Wikidata"} ! conjunctivitis relationship: disease_has_feature EFO:1001869 {source="MONDO:Wikidata"} ! dysentery property_value: closeMatch http://identifiers.org/meddra/10014071 property_value: exactMatch DOID:4325 property_value: exactMatch http://identifiers.org/mesh/D019142 property_value: exactMatch http://identifiers.org/snomedct/37109004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0282687 property_value: exactMatch NCIT:C36171 property_value: exactMatch Orphanet:319218 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007244 name: Ebstein anomaly def: "A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart." [] def: "Ebstein's malformation is a rare congenital cardiac anomaly characterized by rotational displacement of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction." [Orphanet:1880] subset: ordo_morphological_anomaly {source="Orphanet:1880"} synonym: "Ebstein Anomaly" EXACT [] synonym: "Ebstein anomaly" EXACT [] {comment="preferred label from MONDO"} synonym: "Ebstein anomaly" EXACT [OMIM:224700] synonym: "Ebstein anomaly (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Ebstein anomaly of the tricuspid valve" EXACT [Orphanet:1880] synonym: "Ebstein malformation" RELATED [Orphanet:1880] synonym: "Ebstein's anomaly" EXACT [DOID:14289, ICD9CM:746.2] synonym: "Ebstein's anomaly (disorder) [Ambiguous]" EXACT [] synonym: "Ebstein's anomaly (disorder) [ambiguous]" EXACT [DOID:14289] synonym: "Ebstein's anomaly of common atrioventricular valve" EXACT [DOID:14289] synonym: "Ebstein's anomaly of common atrioventricular valve (disorder)" EXACT [] synonym: "Ebstein's anomaly of right atrioventricular valve" EXACT [DOID:14289] synonym: "Ebstein's anomaly of right atrioventricular valve (disorder)" EXACT [] synonym: "Ebstein's anomaly of tricuspid valve" EXACT [NCIT:C84681] synonym: "Ebstein's anomaly of tricuspid valve (disorder)" EXACT [] synonym: "Ebstein's malformation" RELATED [GARD:0006313] xref: DOID:14289 {source="MONDO:equivalentTo", source="EFO:0007244"} xref: ICD9:746.2 {source="DOID:14289"} xref: MedDRA:10014075 {source="Orphanet:1880", source="Orphanet:1880/e"} xref: MESH:D004437 {source="MONDO:equivalentTo", source="DOID:14289", source="EFO:0007244"} xref: MeSH:D004437 xref: MONDO:0009144 xref: NCIT:C84681 {source="MONDO:equivalentTo", source="DOID:14289"} xref: OMIM:224700 {source="Orphanet:1880", source="MONDO:equivalentTo", source="Orphanet:1880/e", source="DOID:14289"} xref: Orphanet:1880 {source="MONDO:equivalentTo", source="OMIM:224700"} xref: UMLS:C0013481 {source="Orphanet:1880", source="MONDO:equivalentTo", source="Orphanet:1880/e", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C84681", source="DOID:14289", source="OMIM:224700"} is_a: EFO:0009531 ! aortic valve disease is_a: MONDO:0020289 {source="Orphanet:1880"} ! congenital tricuspid malformation property_value: closeMatch http://identifiers.org/meddra/10014075 property_value: exactMatch DOID:14289 property_value: exactMatch http://identifiers.org/mesh/D004437 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013481 property_value: exactMatch https://omim.org/entry/224700 property_value: exactMatch NCIT:C84681 property_value: exactMatch Orphanet:1880 property_value: excluded_subClassOf MONDO:0005561 {source="EFO:0007244"} property_value: excluded_subClassOf MONDO:0018797 {source="Orphanet:3384"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000589 "Ebstein anomaly (disease)" xsd:string [Term] id: EFO:0007245 name: echinococcosis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys." [] def: "A parasitic infection caused by tapeworm larvae of Echinococcus. It affects livestock and humans. It is characterized by the formation of hydatid cysts mainly in the liver, lungs, spleen, and kidneys. Rupture of the cysts may lead to shock." [NCIT:P378] synonym: "echinococcal disease" EXACT [] synonym: "echinococcal disease" NARROW [DOID:1496] synonym: "echinococciasis" RELATED [] synonym: "Echinococcosis" EXACT [] synonym: "echinococcosis" EXACT [] {comment="preferred label from MONDO"} synonym: "echinococcosis of liver" EXACT [DOID:1496] synonym: "Echinococcosis of liver (disorder)" EXACT [] synonym: "Echinococcosis, unspecified, of liver" EXACT [] synonym: "echinococcosis, unspecified, of liver" NARROW [DOID:1496, ICD9CM:122.8] synonym: "Echinococcosis, unspecified, of liver (disorder)" EXACT [] synonym: "Echinococcus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "echinococcus disease" RELATED [] synonym: "Echinococcus disease or disorder" EXACT [] synonym: "Echinococcus infectious disease" EXACT [] synonym: "hepatic echinococcosis" EXACT [] synonym: "hepatic echinococcosis" NARROW [DOID:1496] synonym: "hydatid disease" EXACT [] synonym: "hydatid disease" NARROW [DOID:1496] synonym: "hydatidosis" EXACT [] synonym: "hydatidosis" NARROW [DOID:1496] synonym: "liver echinococcus" EXACT [DOID:1496] synonym: "Liver echinococcus unspecified (disorder)" EXACT [] synonym: "pulmonary echinococcosis" EXACT [] synonym: "pulmonary echinococcosis" NARROW [DOID:1496] xref: DOID:1496 {source="MONDO:equivalentTo", source="EFO:0007245"} xref: ICD10:B67 xref: ICD10CM:B67 {source="DOID:1496", source="MONDO:equivalentTo"} xref: ICD9:122 {source="DOID:1496"} xref: ICD9:122.9 xref: MedDRA:10014097 xref: MedDRA:10014098 xref: MedDRA:10014099 xref: MESH:D004443 {source="DOID:1496", source="MONDO:equivalentTo", source="EFO:0007245"} xref: MeSH:D004443 xref: MONDO:0005738 xref: NCIT:C84682 {source="DOID:1496", source="MONDO:equivalentTo"} xref: SCTID:74942003 {source="DOID:1496", source="MONDO:equivalentTo"} xref: UMLS:C0013502 {source="DOID:1496", source="MONDO:equivalentTo", source="NCIT:C84682"} is_a: MONDO:0042488 ! Cestode infectious disease property_value: exactMatch DOID:1496 property_value: exactMatch http://identifiers.org/mesh/D004443 property_value: exactMatch http://identifiers.org/snomedct/74942003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013502 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B67 property_value: exactMatch NCIT:C84682 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007246 name: echinostomiasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain." [] def: "Infection by flukes of the genus Echinostoma." [MESH:D004451] synonym: "Echinostomatoidea caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Echinostomatoidea disease or disorder" EXACT [] synonym: "Echinostomatoidea infectious disease" EXACT [] synonym: "Echinostomiasis" EXACT [] synonym: "echinostomiasis" EXACT [] {comment="preferred label from MONDO"} synonym: "Echinostomiasis (disorder)" EXACT [] synonym: "infection by Echinochasmus" EXACT [DOID:1218] synonym: "Infection by Echinochasmus (disorder)" EXACT [] xref: DOID:1218 {source="EFO:0007246", source="MONDO:equivalentTo"} xref: ICD9:121.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D004451 {source="EFO:0007246", source="MONDO:equivalentTo", source="DOID:1218"} xref: MeSH:D004451 xref: MONDO:0005739 xref: SCTID:52918004 {source="MONDO:equivalentTo", source="DOID:1218"} xref: UMLS:C0013514 {source="MONDO:equivalentTo", source="DOID:1218"} is_a: EFO:0010282 ! gastrointestinal disease is_a: EFO:1001342 {source="DOID:1218", source="MESH:D004451/inferred"} ! Helminthiasis property_value: exactMatch DOID:1218 property_value: exactMatch http://identifiers.org/mesh/D004451 property_value: exactMatch http://identifiers.org/snomedct/52918004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013514 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007247 name: echovirus infectious disease def: "An Enterovirus infectious disease that results_in infection located_in gastrointestinal tract, or located_in skin, has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites." [] def: "Infectious disease processes, including meningitis, diarrhea, and respiratory disorders, caused by echoviruses." [MESH:D004457] synonym: "echo Virus infection" RELATED [MESH:D004457] synonym: "echo Virus infections" RELATED [MESH:D004457] synonym: "Echovirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Echovirus disease or disorder" EXACT [] synonym: "Echovirus infection" RELATED [MESH:D004457] synonym: "Echovirus Infections" EXACT [] synonym: "Echovirus infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "infection, echo Virus" RELATED [MESH:D004457] synonym: "infection, Echovirus" RELATED [MESH:D004457] synonym: "infections, echo Virus" RELATED [MESH:D004457] synonym: "infections, Echovirus" RELATED [MESH:D004457] xref: DOID:10911 xref: MESH:D004457 {source="EFO:0007247", source="MONDO:equivalentTo"} xref: MeSH:D004457 xref: MONDO:0005740 xref: SCTID:271532008 {source="MONDO:equivalentTo"} xref: UMLS:C0013533 {source="MONDO:equivalentTo"} is_a: EFO:0007255 {source="MESH:D004457", source="MONDO:Redundant"} ! Enterovirus infectious disease property_value: exactMatch http://identifiers.org/mesh/D004457 property_value: exactMatch http://identifiers.org/snomedct/271532008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013533 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007248 name: egg allergy def: "A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms." [] synonym: "Allergy to eggs (disorder)" EXACT [] synonym: "Egg allergy" EXACT [] synonym: "Egg Hypersensitivity" EXACT [] xref: DOID:4377 xref: MedDRA:10014315 xref: MeSH:D021181 is_a: EFO:1001890 ! food allergy property_value: IAO:0000117 "Gautier Koscielny" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007249 name: emphysematous cholecystitis def: "Cholecystitis resulting from infection by gas producing organisms." [NCIT:P378] def: "Emphysematous cholecystitis is a bacterial infectious disease consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues." [] synonym: "Emphysematous Cholecystitis" EXACT [] synonym: "emphysematous cholecystitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Gaseous pericholecystitis" EXACT [] synonym: "gaseous pericholecystitis" EXACT [DOID:9765] xref: DOID:9765 {source="EFO:0007249", source="MONDO:equivalentTo"} xref: MedDRA:10056668 xref: MESH:D041882 {source="DOID:9765", source="EFO:0007249", source="MONDO:equivalentTo"} xref: MeSH:D041882 xref: MONDO:0005742 xref: NCIT:C35592 {source="DOID:9765", source="MONDO:equivalentTo"} xref: SCTID:95558008 {source="DOID:9765", source="MONDO:equivalentTo"} xref: UMLS:C0521610 {source="DOID:9765", source="NCIT:C35592", source="MONDO:equivalentTo"} is_a: EFO:0003832 ! gallbladder disease is_a: EFO:1000025 {source="EFO:0007249"} ! cystitis is_a: MONDO:0004789 ! cholangitis property_value: exactMatch DOID:9765 property_value: exactMatch http://identifiers.org/mesh/D041882 property_value: exactMatch http://identifiers.org/snomedct/95558008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0521610 property_value: exactMatch NCIT:C35592 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007250 name: encephalitozoonosis def: "A microsporidiosis that is a zoonotic infectious disease results_in disseminated fungal infection in dogs, cats, hamsters, guinea pigs, rats, mice and humans, has_material_basis_in Encephalitozoon cuniculi, has_material_basis_in Encephalitozoon intestinalis or has_material_basis_in Encephalitozoon hellem." [] def: "Infection with fungi of the genus encephalitozoon. Lesions commonly occur in the brain and kidney tubules. Other sites of infection in mammals are the liver; adrenal glands; optic nerves; retina; and myocardium." [MESH:D016890] synonym: "Encephalitozoonosis" EXACT [] synonym: "encephalitozoonosis" EXACT [] {comment="preferred label from MONDO"} synonym: "infection by Encephalitozoon" EXACT [DOID:4270] synonym: "Infection by Encephalitozoon (disorder)" EXACT [] xref: DOID:4270 {source="MONDO:equivalentTo", source="EFO:0007250"} xref: ICD9:136.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D016890 {source="MONDO:equivalentTo", source="EFO:0007250", source="DOID:4270"} xref: MeSH:D016890 xref: MONDO:0005743 xref: SCTID:12825006 {source="MONDO:equivalentTo", source="DOID:4270"} xref: UMLS:C0085412 {source="MONDO:equivalentTo", source="DOID:4270"} is_a: EFO:0007366 {source="DOID:4270", source="MESH:D016890"} ! microsporidiosis property_value: exactMatch DOID:4270 property_value: exactMatch http://identifiers.org/mesh/D016890 property_value: exactMatch http://identifiers.org/snomedct/12825006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085412 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007251 name: endocardial fibroelastosis def: "An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers." [] def: "Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia." [Orphanet:2022] comment: Editor notes: ORDO classifies as both familial and non-familial subset: gard_rare {source="GARD:0006336"} subset: ordo_disease {source="Orphanet:2022"} synonym: "EFE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:226000] synonym: "Elastomyofibrosis" EXACT [DOID:12929] synonym: "Endocardial Fibroelastosis" EXACT [] synonym: "endocardial fibroelastosis" EXACT [] {comment="preferred label from MONDO"} synonym: "endocardial fibroelastosis" EXACT [MONDO:Lexical, OMIM:226000] synonym: "endomyocardial fibroelastosis" RELATED [Orphanet:2022] xref: DOID:12929 {source="MONDO:equivalentTo", source="EFO:0007251"} xref: ICD10CM:I42.4 {source="Orphanet:2022", source="MONDO:equivalentTo", source="Orphanet:2022/e", source="DOID:12929", source="Orphanet:2022/specific"} xref: ICD9:425.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12929"} xref: MedDRA:10014663 {source="Orphanet:2022", source="Orphanet:2022/e"} xref: MESH:D004695 {source="MONDO:equivalentTo", source="DOID:12929", source="EFO:0007251"} xref: MeSH:D004695 xref: MONDO:0009169 xref: NCIT:C98922 {source="MONDO:equivalentTo", source="DOID:12929"} xref: OMIM:226000 {source="Orphanet:2022", source="MONDO:equivalentTo", source="Orphanet:2022/e", source="DOID:12929"} xref: Orphanet:2022 {source="OMIM:226000", source="MONDO:equivalentTo"} xref: SCTID:65457005 {source="MONDO:equivalentTo", source="DOID:12929"} xref: UMLS:C0014117 {source="OMIM:226000", source="NCIT:C98922", source="Orphanet:2022", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2022/e", source="DOID:12929"} is_a: MONDO:0000470 {source="DOID:12929"} ! endocardium disorder property_value: closeMatch http://identifiers.org/meddra/10014663 property_value: exactMatch DOID:12929 property_value: exactMatch http://identifiers.org/mesh/D004695 property_value: exactMatch http://identifiers.org/snomedct/65457005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014117 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/I42.4 property_value: exactMatch https://omim.org/entry/226000 property_value: exactMatch NCIT:C98922 property_value: exactMatch Orphanet:2022 property_value: excluded_subClassOf MONDO:0016333 {source="MONDO:Redundant", source="Orphanet:2022"} property_value: excluded_subClassOf MONDO:0016340 {source="MONDO:Redundant", source="Orphanet:2022"} property_value: excluded_subClassOf MONDO:0016345 {source="Orphanet:2022"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6336/endocardial-fibroelastosis xsd:anyURI {source="GARD:0006336"} [Term] id: EFO:0007252 name: endodermal sinus tumor def: "A non-seminomatous malignant germ cell tumor composed of primitive germ cells. It is the most common malignant germ cell tumor in the pediatric population. It occurs in the infant testis, ovary, sacrococcygeal region, vagina, uterus, prostate, abdomen, liver, retroperitoneum, thorax, and pineal/third ventricle. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). Treatment includes: surgical resection, radiation, and chemotherapy. This tumor is very responsive to chemotherapy regimens that include cisplatinum." [NCIT:P378] subset: ordo_disease {source="Orphanet:876"} synonym: "endodermal sinus neoplasm" EXACT [NCIT:C3011] synonym: "endodermal sinus tumor" EXACT [NCIT:C3011, Orphanet:876] synonym: "endodermal sinus tumour" EXACT OMO:0003005 [] synonym: "hepatoid yolk sac tumor" EXACT [DOID:1911] synonym: "hepatoid yolk sac tumour" EXACT [DOID:1911] synonym: "hepatoid yolk sac tumour" EXACT OMO:0003005 [] synonym: "infantile embryonal carcinoma" NARROW [DOID:1911] synonym: "yolk Sac neoplasm" EXACT [DOID:1911, NCIT:C3011] synonym: "yolk Sac tumor" EXACT [NCIT:C3011] synonym: "yolk sac tumor" EXACT [DOID:1911, MONDO:0019495] synonym: "yolk sac tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "yolk sac tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "yolk Sac tumor site unspecified" EXACT [NCIT:C3011] synonym: "yolk SAC tumor, malignant" EXACT [NCIT:C3011] synonym: "yolk Sac tumour" EXACT OMO:0003005 [] synonym: "yolk Sac tumour site unspecified" EXACT OMO:0003005 [] synonym: "yolk Sac tumour site unspecified" EXACT [NCIT:C3011] xref: DOID:1911 {source="MONDO:equivalentTo", source="EFO:0007252"} xref: EFO:0007252 {source="MONDO:equivalentTo"} xref: ICD10:C56 {source="Orphanet:876", source="ORDO:876/btnt"} xref: ICD10:C62.9 {source="Orphanet:876", source="ORDO:876/btnt"} xref: ICDO:9071/3 {source="NCIT:C3011"} xref: MedDRA:10048251 {source="ORDO:876/e", source="Orphanet:876"} xref: MedDRA:10048251 {source="Orphanet:876", source="Orphanet:876/e"} xref: MONDO:0005744 xref: NCIT:C3011 {source="MONDO:equivalentTo", source="DOID:1911"} xref: ONCOTREE:BYST {source="MONDO:equivalentTo"} xref: Orphanet:876 {source="MONDO:equivalentTo"} xref: SCTID:404081005 {source="MONDO:equivalentTo", source="DOID:1911"} xref: UMLS:C0014145 {source="Orphanet:876", source="NCIT:C3011", source="MONDO:equivalentTo", source="Orphanet:876/e", source="DOID:1911"} xref: UMLS:C0014145 {source="ORDO:876/e", source="Orphanet:876", source="NCIT:C3011", source="MONDO:equivalentTo", source="DOID:1911"} is_a: MONDO:0003578 ! extragonadal nonseminomatous germ cell tumor property_value: closeMatch http://identifiers.org/meddra/10048251 property_value: closeMatch http://identifiers.org/mesh/D018240 property_value: closeMatch http://identifiers.org/snomedct/74409009 property_value: exactMatch DOID:1911 property_value: exactMatch DOID:1911 property_value: exactMatch http://identifiers.org/meddra/10048251 property_value: exactMatch http://identifiers.org/snomedct/404081005 property_value: exactMatch http://identifiers.org/snomedct/404081005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014145 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014145 property_value: exactMatch NCIT:C3011 property_value: exactMatch NCIT:C3011 property_value: exactMatch Orphanet:876 [Term] id: EFO:0007253 name: Enoplea infectious disease def: "A Nematoda infectious disease that involves infection by parasitic worms of the class Enoplea, characterized by no body annules, no elaborate amphids, and five or more esophageal glands." [] def: "Infections with nematodes of the order enoplida." [MESH:D017189] synonym: "Enoplea caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Enoplea disease or disorder" EXACT [] synonym: "Enoplea infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Enoplida Infections" EXACT [] synonym: "enoplida infectious disease" EXACT [] xref: DOID:1253 xref: MESH:D017189 {source="MONDO:equivalentTo", source="EFO:0007253"} xref: MeSH:D017189 xref: MONDO:0005745 is_a: EFO:0007391 ! Nematoda infectious disease property_value: exactMatch http://identifiers.org/mesh/D017189 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007254 name: enterobiasis def: "A parasitic helminthiasis infectious disease that involves infection of the anus by the pinworm Enterobius vermicularis. The major symptom is perianal itching. Infected people experience perianal pruritus and excoriations from scratching." [] def: "An infection that is caused by the nematode Enterobius vermicularis; it is characterized predominantly by perianal pruritus." [NCIT:C128396] synonym: "enterobiasis" EXACT [] {comment="preferred label from MONDO"} synonym: "Enterobius vermicularis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Enterobius vermicularis disease or disorder" EXACT [] synonym: "Enterobius vermicularis infection" RELATED [DOID:7457] synonym: "Enterobius vermicularis infectious disease" EXACT [] synonym: "Oxyuriasis" EXACT [] synonym: "oxyuriasis" RELATED [DOID:7457] synonym: "Oxyuris vermicularis infection" EXACT [DOID:7457] synonym: "Oxyuris vermicularis infection (disorder)" EXACT [] synonym: "pinworm infection" RELATED [DOID:7457] synonym: "Threadworm infection" EXACT [] synonym: "threadworm infection" EXACT [DOID:7457] xref: DOID:7457 {source="MONDO:equivalentTo", source="EFO:0007254"} xref: ICD10:B80 xref: ICD10CM:B80 {source="DOID:7457", source="MONDO:equivalentTo"} xref: ICD9:127.4 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10014881 xref: MeSH:D010123 xref: MESH:D017229 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: MeSH:D017229 xref: MONDO:0005746 xref: NCIT:C128396 {source="MONDO:equivalentTo"} xref: SCTID:266162007 {source="DOID:7457", source="MONDO:equivalentTo"} xref: SNOMEDCT:266162007 xref: UMLS:C0030100 {source="DOID:7457", source="MONDO:equivalentTo"} xref: UMLS:C0086227 {source="NCIT:C128396", source="MONDO:equivalentTo"} is_a: EFO:0007468 ! Rhabditida infectious disease relationship: disease_has_feature MONDO:0002203 {source="MONDO:Wikidata"} ! constipation disorder property_value: exactMatch DOID:7457 property_value: exactMatch http://identifiers.org/mesh/D017229 property_value: exactMatch http://identifiers.org/snomedct/266162007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030100 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0086227 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B80 property_value: exactMatch NCIT:C128396 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007255 name: Enterovirus infectious disease def: "A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Enterovirus, which is transmitted_by direct contact with secretions from an infected person, transmitted_by fomites, transmitted_by droplet spread of oronasal secretions from an infected person, or transmitted_by ingestion of contaminated food." [] def: "An disease caused by infection with Enterovirus." [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "disease caused by enterovirus" RELATED [] synonym: "disease due to enterovirus" EXACT [] synonym: "enteroviral infection" RELATED [] synonym: "Enterovirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Enterovirus disease or disorder" EXACT [] synonym: "Enterovirus infection" RELATED [MESH:D004769] synonym: "enterovirus infection" RELATED [] synonym: "Enterovirus Infections" EXACT [] synonym: "Enterovirus infectious disease" EXACT [] synonym: "enterovirus infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "infection, Enterovirus" RELATED [MESH:D004769] synonym: "infections, Enterovirus" RELATED [MESH:D004769] xref: DOID:4808 xref: ICD9:079.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D004769 {source="MONDO:equivalentTo", source="EFO:0007255"} xref: MeSH:D004769 xref: MONDO:0005747 xref: SCTID:53648006 {source="MONDO:equivalentTo"} xref: UMLS:C0014378 {source="MONDO:equivalentTo"} is_a: EFO:0007438 ! Picornaviridae infectious disease property_value: exactMatch http://identifiers.org/mesh/D004769 property_value: exactMatch http://identifiers.org/snomedct/53648006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014378 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007256 name: enzootic pneumonia of calves def: "A bovine respiratory disease complex which is an infectious disease in calves involving stress and possibly an initial respiratory viral infection followed by a secondary bacterial infection of the lower respiratory tract. Mycoplasmal and bacterial agents including Pasteurella multocida, Mannheimia haemolytica, and Mycoplasma bovis represent the most frequently isolated pathogenic organisms." [] synonym: "Enzootic pneumonia of calves (disorder)" EXACT [] synonym: "Pneumonia of Calves, Enzootic" EXACT [] xref: DOID:13274 xref: MeSH:D048089 is_a: EFO:0003106 ! pneumonia property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007257 name: eosinophilic pneumonia def: "A pneumonia in which certain type of white blood cell called an eosinophil accumulates in the lung. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. It is caused by certain medications or environmental triggers, parasitic infections, and cancer. The most common symptoms include cough, fever, difficulty breathing, and sweating at night." [] def: "An inflammatory lung disorder characterized by an increased number of eosinophils in the lungs. The majority of cases are idiopathic, without identifiable cause. In a minority of cases, medications, fungal infections, and environmental triggers have been implicated. It manifests as acute or chronic. Acute eosinophilic pneumonia is a severe and rapidly progressing pneumonia that may lead to respiratory failure requiring mechanical ventilation. Chronic eosinophilic pneumonia follows a slower course and manifests as fever, dyspnea, cough, and weight loss." [NCIT:C35150] synonym: "eosinophilic pneumonia" EXACT [] {comment="preferred label from MONDO"} synonym: "eosinophilic pneumonia" EXACT [NCIT:C35150] synonym: "Pneumonia, eosinophilic" EXACT [] synonym: "pneumonia, eosinophilic" EXACT [DOID:5870] synonym: "Pulmonary Eosinophilia" EXACT [] xref: DOID:5870 {source="EFO:0007257", source="MONDO:equivalentTo"} xref: MedDRA:10014962 xref: MESH:D011657 {source="EFO:0007257", source="MONDO:relatedTo", source="DOID:5870"} xref: MeSH:D011657 xref: MONDO:0005749 xref: NCIT:C35150 {source="MONDO:equivalentTo", source="DOID:5870"} xref: SCTID:367542003 {source="MONDO:relatedTo", source="DOID:5870"} xref: UMLS:C1527407 {source="NCIT:C35150", source="MONDO:equivalentTo", source="DOID:5870"} is_a: EFO:0003106 {source="DOID:5870", source="EFO:0007257"} ! pneumonia property_value: exactMatch DOID:5870 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1527407 property_value: exactMatch NCIT:C35150 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007258 name: ephemeral fever def: "A viral infectious disease that results_in infection in cattle, has_material_basis_in Bovine ephemeral fever virus, which is transmitted_by Culex, transmitted_by Anopheles, and transmitted_by Culicoides arthropods. The infection has_symptom fever, has_symptom stiffness, has_symptom lameness, has_symptom nasal discharge, has_symptom ocular discharge, has_symptom depression, has_symptom cessation of rumination, and has_symptom constipation." [] def: "An Ephemerovirus infection of cattle caused by bovine ephemeral fever virus (ephemeral fever virus, bovine). It is characterized by respiratory symptoms, increased oropharyngeal secretions and lacrimation, joint pains, tremor, and stiffness." [MESH:D004810] synonym: "Bovine ephemeral fever" EXACT [] synonym: "Ephemeral Fever" EXACT [] synonym: "ephemeral fever" EXACT [] {comment="preferred label from MONDO"} synonym: "Ephemeral fever of cattle" EXACT [] synonym: "Three-Day Sickness" EXACT [] synonym: "Three-Day Stiffsickness" EXACT [] xref: DOID:5215 xref: MESH:D004810 {source="EFO:0007258", source="MONDO:equivalentTo"} xref: MeSH:D004810 xref: MONDO:0005750 xref: UMLS:C0014481 {source="MONDO:equivalentTo"} is_a: MONDO:0024913 ! cattle disease property_value: exactMatch http://identifiers.org/mesh/D004810 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014481 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: RO:0002175 NCBITaxon:9913 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"} [Term] id: EFO:0007259 name: epidemic pleurodynia def: "A viral infectious disease that results_in necrosis located_in intercostal muscle, has_material_basis_in Human enterovirus B. The infection has_symptom severe chest pain, has_symptom fever, has_symptom malaise, has_symptom pleuritis, and has_symptom headache." [] def: "An acute, febrile, infectious disease generally occurring in epidemics. It is usually caused by coxsackieviruses B and sometimes by coxsackieviruses A; echoviruses; or other enteroviruses." [MESH:D011000] synonym: "Bamble disease" EXACT [DOID:10882] synonym: "Bornholm disease" EXACT [DOID:10882] synonym: "devil's grip" EXACT [DOID:10882] synonym: "epidemic myalgia" EXACT [DOID:10882] synonym: "Epidemic pleurisy" EXACT [] synonym: "epidemic pleurisy" EXACT [DOID:10882] synonym: "epidemic pleurodynia" EXACT [] {comment="preferred label from MONDO"} synonym: "Epidemic, myositis" EXACT [] synonym: "epidemic, myositis" EXACT [DOID:10882] synonym: "Pleurodynia, Epidemic" EXACT [] xref: DOID:10882 {source="EFO:0007259", source="MONDO:equivalentTo"} xref: ICD10CM:B33.0 {source="MONDO:equivalentTo", source="DOID:10882"} xref: ICD9:074.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10882"} xref: MedDRA:10014978 xref: MESH:D011000 {source="EFO:0007259", source="MONDO:equivalentTo", source="DOID:10882"} xref: MeSH:D011000 xref: MONDO:0005751 xref: SCTID:83264000 {source="MONDO:equivalentTo", source="DOID:10882"} xref: UMLS:C0032238 {source="MONDO:equivalentTo", source="DOID:10882"} is_a: EFO:0000763 {source="DOID:10882", source="EFO:0007259", source="MESH:D011000/inferred", source="MONDO:Redundant"} ! viral disease property_value: exactMatch DOID:10882 property_value: exactMatch http://identifiers.org/mesh/D011000 property_value: exactMatch http://identifiers.org/snomedct/83264000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032238 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B33.0 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007260 name: epidural abscess def: "Circumscribed collections of suppurative material occurring in the spinal or intracranial epidural space. The majority of epidural abscesses occur in the spinal canal and are associated with osteomyelitis of a vertebral body; analgesia, epidural; and other conditions. Clinical manifestations include local and radicular pain, weakness, sensory loss, urinary incontinence, and fecal incontinence. Cranial epidural abscesses are usually associated with osteomyelitis of a cranial bone, sinusitis, or otitis media. (From Adams et al., Principles of Neurology, 6th ed, p710 and pp1240-1; J Neurol Neurosurg Psychiatry 1998 Aug;65(2):209-12)" [MESH:D020802] synonym: "abscess epidural" EXACT [DOID:11387] synonym: "epidural abscess" EXACT [] {comment="preferred label from MONDO"} synonym: "epidural abscess" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "extradural intraspinal abscess" EXACT [https://orcid.org/0000-0002-8169-9049, OMOP:4270778, SCTID:63627007] synonym: "intraspinal epidural abscess" EXACT [https://orcid.org/0000-0002-8169-9049, OMOP:4270778, SCTID:63627007] synonym: "intraspinal extradural abscess" EXACT [https://orcid.org/0000-0002-8169-9049, OMOP:4270778, SCTID:63627007] synonym: "spinal epidural abscess" EXACT [https://orcid.org/0000-0002-8169-9049, OMOP:4270778, SCTID:63627007] synonym: "spinal epidural abscess (disorder)" EXACT [https://orcid.org/0000-0002-8169-9049, OMOP:4270778, SCTID:63627007] synonym: "spinal extradural abscess" EXACT [https://orcid.org/0000-0002-8169-9049, OMOP:4270778, SCTID:63627007] xref: DOID:11387 {source="MONDO:equivalentTo", source="EFO:0007260"} xref: EFO:0007260 {source="MONDO:equivalentTo"} xref: MESH:D020802 {source="MONDO:equivalentTo", source="EFO:0007260", source="DOID:11387"} xref: MONDO:0005752 xref: SCTID:61974008 {source="MONDO:equivalentTo", source="DOID:11387"} xref: UMLS:C0270629 {source="MONDO:equivalentTo", source="DOID:11387"} is_a: EFO:0003030 {source="https://orcid.org/0000-0001-5208-3432"} ! abscess is_a: EFO:1000158 {source="EFO:0007260"} ! Central Nervous System Neoplasm is_a: EFO:1001456 ! central nervous system infection property_value: closeMatch http://identifiers.org/snomedct/192752004 property_value: closeMatch http://identifiers.org/snomedct/310671007 property_value: exactMatch DOID:11387 property_value: exactMatch DOID:11387 property_value: exactMatch http://identifiers.org/mesh/D020802 property_value: exactMatch http://identifiers.org/mesh/D020802 property_value: exactMatch http://identifiers.org/snomedct/61974008 property_value: exactMatch http://identifiers.org/snomedct/61974008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270629 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270629 [Term] id: EFO:0007261 name: epiglottitis def: "An upper respiratory tract disease which involves inflammation of the epiglottis due to infection. Haemophilus influenzae type B is the most common bacterial causative agent, although some cases are attributable to Streptococcus pneumoniae or Streptococcus pyogenes. The infection can cause the epiglottis to either obstruct or completely close off the windpipe. Epiglottitis typically affects children, and is associated with fever, difficulty in swallowing, drooling, hoarseness of voice, and stridor." [] def: "Inflammation of the epiglottis." [NCIT:P378] synonym: "acute epiglottitis" EXACT [] synonym: "acute epiglottitis (disorder)" EXACT [] synonym: "acute epiglottitis and supraglottitis" EXACT [DOID:9398] synonym: "acute epiglottitis NOS (disorder)" EXACT [] synonym: "acute epiglottitis with obstruction" EXACT [] synonym: "acute epiglottitis with obstruction (disorder)" EXACT [] synonym: "acute epiglottitis without mention of obstruction" EXACT [] synonym: "acute epiglottitis without obstruction" EXACT [] synonym: "acute epiglottitis without obstruction (disorder)" EXACT [] synonym: "Epiglottitis" EXACT [] synonym: "epiglottitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Epiglottitis (disorder)" EXACT [] synonym: "inflammation of mucosa of epiglottis" EXACT [] synonym: "mucosa of epiglottis inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "supraglottitis" EXACT [NCIT:C116007] xref: DOID:9398 {source="MONDO:equivalentTo", source="EFO:0007261"} xref: ICD9:464.3 {source="DOID:9398"} xref: MedDRA:10015030 xref: MESH:D004826 {source="MONDO:equivalentTo", source="EFO:0007261", source="DOID:9398"} xref: MeSH:D004826 xref: MONDO:0005753 xref: NCIT:C116007 {source="MONDO:equivalentTo", source="DOID:9398"} xref: SCTID:80384002 {source="MONDO:equivalentTo", source="DOID:9398"} xref: UMLS:C0014541 {source="MONDO:equivalentTo", source="NCIT:C116007", source="DOID:9398"} is_a: EFO:0009903 ! inflammatory disease is_a: MONDO:0004867 {source="DOID:9398"} ! upper respiratory tract disorder is_a: MONDO:0020592 ! disorder of pharynx property_value: exactMatch DOID:9398 property_value: exactMatch http://identifiers.org/mesh/D004826 property_value: exactMatch http://identifiers.org/snomedct/80384002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014541 property_value: exactMatch NCIT:C116007 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007262 name: epilepsy with generalized tonic-clonic seizures def: "A generalized tonic-clonic seizure." [NCIT:P378] def: "An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type." [] synonym: "epilepsy with generalized tonic-clonic seizures" EXACT [] {comment="preferred label from MONDO"} synonym: "Epilepsy, Tonic-Clonic" EXACT [] synonym: "Epileptic seizures, tonic-clonic" EXACT [] synonym: "epileptic seizures, tonic-clonic" EXACT [DOID:7725] synonym: "Grand Mal epilepsy" EXACT [] synonym: "grand Mal epilepsy" EXACT [DOID:7725, NCIT:C3022] synonym: "tonic-clonic epilepsy" EXACT [DOID:7725] synonym: "Tonic-clonic epilepsy (disorder)" EXACT [] xref: DOID:7725 {source="MONDO:equivalentTo", source="EFO:0007262"} xref: ICD9:345.10 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D004830 {source="MONDO:equivalentTo", source="DOID:7725", source="EFO:0007262"} xref: MeSH:D004830 xref: MONDO:0005754 xref: NCIT:C3022 {source="MONDO:equivalentTo", source="DOID:7725"} xref: SCTID:352818000 {source="MONDO:equivalentTo", source="DOID:7725"} xref: UMLS:C0014549 {source="NCIT:C3022", source="MONDO:equivalentTo", source="DOID:7725"} is_a: MONDO:0000415 {source="DOID:7725"} ! adolescence-adult electroclinical syndrome is_a: MONDO:0100030 {source="https://orcid.org/0000-0001-8486-0558"} ! adolescent/adult-onset epilepsy syndrome property_value: exactMatch DOID:7725 property_value: exactMatch http://identifiers.org/mesh/D004830 property_value: exactMatch http://identifiers.org/snomedct/352818000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014549 property_value: exactMatch NCIT:C3022 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007263 name: equine infectious anemia def: "A viral infectious disease that results_in breakdown of red blood cells in horses, has_material_basis_in Equine infectious anemia virus, which is transmitted_by horse fly bite, transmitted_by deer fly bite, transmitted_by contact with saliva, milk, and body secretions, and transmitted_by contaminated needles and surgical equipment. The infection has_symptom anemia, has_symptom weakness, has_symptom swelling of the lower abdomen and legs, has_symptom weak pulse, and has_symptom irregular heartbeat." [] def: "Viral disease of horses caused by the equine infectious anemia virus (eiav; infectious anemia virus, equine). It is characterized by intermittent fever, weakness, and anemia. Chronic infection consists of acute episodes with remissions." [MESH:D004859] synonym: "Equine Infectious Anemia" EXACT [] synonym: "equine infectious anemia" EXACT [] {comment="preferred label from MONDO"} synonym: "Fever, swamp" EXACT [] xref: DOID:5002 xref: MESH:D004859 {source="MONDO:equivalentTo", source="EFO:0007263"} xref: MeSH:D004859 xref: MONDO:0005755 xref: NCIT:C84694 {source="MONDO:equivalentTo"} xref: UMLS:C0014661 {source="MONDO:equivalentTo"} is_a: EFO:0000763 ! viral disease is_a: MONDO:0700053 {source="EFO:0007263", source="MESH:D004859/inferred"} ! viral infectious disease, non-human animal is_a: MONDO:0700170 {source="https://orcid.org/0000-0002-4142-7153"} ! equine neoplasm property_value: exactMatch http://identifiers.org/mesh/D004859 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014661 property_value: exactMatch NCIT:C84694 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4420 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5252 xsd:anyURI [Term] id: EFO:0007264 name: ethmoid sinusitis def: "A sinusitis which involves infection of ethmoid sinuses that causes pain or pressure behind and between the eyes, tearing, and headache over the forehead." [] def: "An acute or chronic inflammatory process affecting the mucous membrane of the ethmoid sinus." [NCIT:P378] synonym: "ethmoid bone sinusitis" EXACT [MONDO:patterns/location] synonym: "Ethmoid Sinusitis" EXACT [] synonym: "ethmoid sinusitis" EXACT [] {comment="preferred label from MONDO"} synonym: "ethmoidal sinusitis" EXACT [DOID:9507, NCIT:C34597] synonym: "ethmoiditis" EXACT [DOID:9507] synonym: "sinusitis of ethmoid bone" EXACT [MONDO:design_pattern] xref: DOID:9507 {source="MONDO:equivalentTo", source="EFO:0007264"} xref: MESH:D015521 {source="MONDO:equivalentTo", source="DOID:9507", source="EFO:0007264"} xref: MeSH:D015521 xref: MONDO:0005756 xref: NCIT:C34597 {source="MONDO:equivalentTo", source="DOID:9507"} xref: SCTID:18643000 {source="MONDO:equivalentTo", source="DOID:9507"} xref: UMLS:C0015029 {source="MONDO:equivalentTo", source="DOID:9507", source="NCIT:C34597"} is_a: EFO:0007486 {source="DOID:9507", source="EFO:0007264", source="MESH:D015521", source="MONDO:Redundant", source="NCIT:C34597"} ! sinusitis is_a: MONDO:0023369 ! disorder of facial skeleton property_value: exactMatch DOID:9507 property_value: exactMatch http://identifiers.org/mesh/D015521 property_value: exactMatch http://identifiers.org/snomedct/18643000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015029 property_value: exactMatch NCIT:C34597 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007265 name: eumycotic mycetoma def: "A chronic granulomatous inflammation involving the deep dermis and the subcutaneous tissues. It is caused by fungi and actinomycetes." [NCIT:P378] def: "A dermatomycosis that effects skin and subcutaneous tissue located_in foot, located_in trunk, located_in buttocks, located_in eyelids, located_in lacrimal glands, located_in paranasal sinuses, located_in mandible, located_in scalp, located_in neck, located_in perineum, or located_in testes and has_symptom sinus discharge and results_in_formation_of nodules." [] synonym: "eumycetoma" EXACT [DOID:13078] synonym: "eumycotic mycetoma" EXACT [] {comment="preferred label from MONDO"} synonym: "Madura foot" BROAD [DOID:13078, ICD9CM:039.4] synonym: "Madura foot" EXACT [] synonym: "maduromycosis" EXACT [DOID:13078] synonym: "Maduromycosis, mycotic" EXACT [DOID:13078] synonym: "Mycetoma" EXACT [] synonym: "mycotic mycetoma" EXACT [DOID:13078] synonym: "Mycotic mycetoma (disorder)" EXACT [] xref: DOID:13078 {source="MONDO:equivalentTo", source="EFO:0007265"} xref: ICD10:B47 xref: ICD10CM:B47 {source="MONDO:relatedTo", source="DOID:13078"} xref: ICD9:117.4 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D008271 {source="MONDO:relatedTo", source="DOID:13078", source="EFO:0007265"} xref: MeSH:D008271 xref: MONDO:0005757 xref: NCIT:C85505 {source="MONDO:relatedTo", source="DOID:13078"} xref: SCTID:410038006 {source="MONDO:equivalentTo"} xref: SCTID:410039003 {source="MONDO:relatedTo", source="DOID:13078"} xref: UMLS:C0024449 {source="MONDO:relatedTo", source="DOID:13078"} is_a: EFO:0007510 ! tinea is_a: MONDO:0002040 {source="DOID:13078"} ! dermatomycosis property_value: exactMatch DOID:13078 property_value: exactMatch http://identifiers.org/snomedct/410038006 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007266 name: eunuchism def: "A hypogonadism that is characterized by the lack of mature male germ cells and testicular hormones." [] def: "The state of being a eunuch, a male without testes or whose testes failed to develop. It is characterized by the lack of mature male germ cells and testicular hormones." [MESH:D005058] synonym: "Eunuchism" EXACT [] synonym: "eunuchism" EXACT [] {comment="preferred label from MONDO"} synonym: "Eunuchism (disorder)" EXACT [] synonym: "hypergonadotropic hypogonadism (Male)" RELATED [NCIT:C131195] synonym: "Male hypergonadotropic hypogonadism" RELATED [NCIT:C131195] synonym: "Primary testicular failure" EXACT [NCIT:C131195] xref: DOID:5003 {source="MONDO:equivalentTo", source="EFO:0007266"} xref: ICD9:257.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D005058 {source="DOID:5003", source="MONDO:equivalentTo", source="EFO:0007266"} xref: MeSH:D005058 xref: MONDO:0005758 xref: NCIT:C131195 {source="MONDO:equivalentTo"} xref: SCTID:267403002 {source="DOID:5003", source="MONDO:equivalentTo"} xref: UMLS:C0238117 {source="DOID:5003", source="MONDO:equivalentTo"} is_a: EFO:0009555 ! male reproductive system disease is_a: MONDO:0002146 {source="DOID:5003", source="MESH:D005058"} ! hypogonadism property_value: exactMatch DOID:5003 property_value: exactMatch http://identifiers.org/mesh/D005058 property_value: exactMatch http://identifiers.org/snomedct/267403002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238117 property_value: exactMatch NCIT:C131195 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007267 name: obsolete_factor VIII deficiency def: "An X-linked disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait." [] synonym: "Congenital factor VIII disorder" EXACT [] synonym: "Hemophilia A" EXACT [] synonym: "Hemophilia A (disorder)" EXACT [] synonym: "Subhemophilia" EXACT [] xref: DOID:12134 xref: MeSH:D006467 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.98" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication\nUse http://www.orpha.net/ORDO/Orphanet_98878\nLabel : Hemophilia A" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_98878 [Term] id: EFO:0007268 name: fascioloidiasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by Fascioloides magna." [] def: "Infection of cattle and other herbivores with the giant liver fluke Fascioloides magna. It is characterized by extensive destruction of the liver parenchyma." [MESH:D005213] synonym: "Fascioloidiasis" EXACT [] synonym: "fascioloidiasis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:1217 {source="EFO:0007268", source="MONDO:equivalentTo"} xref: MESH:D005213 {source="EFO:0007268", source="MONDO:equivalentTo", source="DOID:1217"} xref: MeSH:D005213 xref: MONDO:0005759 xref: SCTID:69550000 {source="MONDO:equivalentTo", source="DOID:1217"} xref: UMLS:C0015655 {source="MONDO:equivalentTo", source="DOID:1217"} is_a: EFO:0001421 ! liver disease is_a: EFO:1001342 {source="DOID:1217", source="MESH:D005213/inferred"} ! Helminthiasis property_value: exactMatch DOID:1217 property_value: exactMatch http://identifiers.org/mesh/D005213 property_value: exactMatch http://identifiers.org/snomedct/69550000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015655 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007269 name: Felty's syndrome def: "A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia." [] def: "Felty syndrome (FS), also known as ''super rheumatoid'' disease, is a severe form of rheumatoid arthritis (RA), characterized by a triad of RA, splenomegaly and neutropenia, resulting in susceptibility to bacterial infections." [Orphanet:47612] subset: gard_rare {source="GARD:0008234"} subset: ordo_disease {source="Orphanet:47612"} synonym: "familial Felty's syndrome" RELATED [GARD:0008234] synonym: "Felty Syndrome" EXACT [] synonym: "Felty syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Felty syndrome" EXACT [DOID:11042, OMIM:134750] synonym: "Felty's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] synonym: "Rheumatoid arthritis with splenoadenomegaly and leukopenia" EXACT [] synonym: "rheumatoid arthritis with splenoadenomegaly and leukopenia" EXACT [DOID:11042] synonym: "rheumatoid arthritis, splenomegaly and neutropenia" RELATED [GARD:0008234] synonym: "splenomegaly-neutropenia-rheumatoid arthritis syndrome" EXACT [Orphanet:47612] xref: DOID:11042 {source="EFO:0007269", source="MONDO:equivalentTo"} xref: ICD9:714.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11042"} xref: MedDRA:10016386 {source="Orphanet:47612", source="Orphanet:47612/e"} xref: MESH:D005258 {source="EFO:0007269", source="Orphanet:47612", source="MONDO:equivalentTo", source="Orphanet:47612/e", source="DOID:11042"} xref: MeSH:D005258 xref: MONDO:0007603 xref: NCIT:C84712 {source="MONDO:equivalentTo", source="DOID:11042"} xref: OMIM:134750 {source="Orphanet:47612", source="MONDO:equivalentTo", source="Orphanet:47612/e", source="DOID:11042"} xref: Orphanet:47612 {source="MONDO:equivalentTo", source="OMIM:134750"} xref: SCTID:57160007 {source="MONDO:equivalentTo", source="DOID:11042"} xref: UMLS:C0015773 {source="Orphanet:47612", source="NCIT:C84712", source="MONDO:equivalentTo", source="OMIM:134750", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:47612/e", source="DOID:11042"} is_a: EFO:0000685 {source="EFO:0007269", source="MESH:D005258"} ! rheumatoid arthritis is_a: MONDO:0002254 {source="DOID:11042", source="NCIT:C84712"} ! syndromic disease is_a: MONDO:0015822 {source="Orphanet:47612"} ! acquired neutropenia property_value: closeMatch http://identifiers.org/meddra/10016386 property_value: exactMatch DOID:11042 property_value: exactMatch http://identifiers.org/mesh/D005258 property_value: exactMatch http://identifiers.org/snomedct/57160007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015773 property_value: exactMatch https://omim.org/entry/134750 property_value: exactMatch NCIT:C84712 property_value: exactMatch Orphanet:47612 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8234/feltys-syndrome xsd:anyURI {source="GARD:0008234"} [Term] id: EFO:0007270 name: femoral cancer def: "A bone cancer that is located_in the femur." [] synonym: "Femoral Neoplasms" EXACT [] synonym: "neoplasm of femur" EXACT [] xref: DOID:5546 xref: MeSH:D005266 is_a: EFO:0003820 ! bone neoplasm property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007271 name: fibroepithelial neoplasm def: "A benign, borderline, or malignant neoplasm characterized by the presence of an epithelial and a fibrous component. Representative examples are fibroadenoma and phyllodes tumor." [NCIT:C3743] synonym: "fibroepithelial neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "fibroepithelial neoplasm" EXACT [MONDO:0005760, NCIT:C3743] synonym: "fibroepithelial neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "fibroepithelial tumor" EXACT [NCIT:C3743] synonym: "fibroepithelial tumour" EXACT OMO:0003005 [] xref: EFO:0007271 {source="MONDO:equivalentTo"} xref: MESH:D018225 {source="MONDO:equivalentTo", source="EFO:0007271"} xref: MONDO:0021045 xref: NCIT:C3743 {source="MONDO:equivalentTo"} xref: UMLS:C0206649 {source="MONDO:equivalentTo", source="NCIT:C3743"} is_a: MONDO:0021043 {source="NCIT:C3743"} ! mixed neoplasm property_value: closeMatch DOID:153 property_value: exactMatch http://identifiers.org/mesh/D018225 property_value: exactMatch http://identifiers.org/mesh/D018225 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206649 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206649 property_value: exactMatch NCIT:C3743 property_value: exactMatch NCIT:C3743 [Term] id: EFO:0007272 name: filarial elephantiasis def: "A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi or Brugia timori, which inhabit the lymphatics. These nematodes are transmitted by mosquitoes. Acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. Chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis." [] def: "Parasitic infestation of the human lymphatic system by wuchereria bancrofti or brugia malayi. It is also called lymphatic filariasis." [MESH:D004605] subset: ordo_disease {source="Orphanet:2035"} synonym: "Bancroftian elephantiasis" EXACT [DOID:12211] synonym: "Bancroftian elephantiasis (disorder)" EXACT [] synonym: "Bancroftian filarial chyluria" EXACT [DOID:12211] synonym: "Bancroftian filariasis" RELATED [GARD:0003321] synonym: "elephantiasis" BROAD [GARD:0003321, NCIT:C128360] synonym: "elephantiasis of eyelid" EXACT [DOID:12211] synonym: "Elephantiasis of eyelid (disorder)" EXACT [] synonym: "Elephantiasis, Filarial" EXACT [] synonym: "eyelid elephantiasis" EXACT [MONDO:patterns/location] synonym: "filarial elephantiasis" EXACT [] {comment="preferred label from MONDO"} synonym: "Lymphatic filariasis (disorder)" EXACT [] synonym: "Malayi tropical eosinphilia" RELATED [GARD:0003321] synonym: "Wuchereria Bancrofti infection" RELATED [GARD:0003321] synonym: "Wuchereriasis" RELATED [GARD:0003321] xref: DOID:12211 {source="MONDO:equivalentTo", source="EFO:0007272"} xref: ICD9:374.83 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10016675 {source="Orphanet:2035", source="Orphanet:2035/e"} xref: MESH:D004605 {source="MONDO:equivalentTo", source="EFO:0007272", source="DOID:12211"} xref: MeSH:D004605 xref: MONDO:0005761 xref: NCIT:C128360 {source="MONDO:equivalentTo"} xref: Orphanet:2035 {source="MONDO:equivalentTo"} xref: SCTID:14100003 {source="MONDO:equivalentTo"} xref: SCTID:240820001 {source="MONDO:equivalentTo", source="DOID:12211"} is_a: EFO:0000701 ! skin disease is_a: EFO:0004711 {source="DOID:12211", source="MONDO:Entailed", source="MONDO:Redundant"} ! elephantiasis is_a: MONDO:0001812 ! parasitic eyelid infestation is_a: MONDO:0016075 {source="DOID:12211", source="MESH:D004605", source="NCIT:C128360", source="Orphanet:2035"} ! filariasis is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease relationship: disease_has_feature EFO:0004711 {source="MONDO:Wikidata"} ! elephantiasis property_value: closeMatch http://identifiers.org/meddra/10016675 property_value: exactMatch DOID:12211 property_value: exactMatch http://identifiers.org/mesh/D004605 property_value: exactMatch http://identifiers.org/snomedct/14100003 property_value: exactMatch http://identifiers.org/snomedct/240820001 property_value: exactMatch NCIT:C128360 property_value: exactMatch Orphanet:2035 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007273 name: Filoviridae infectious disease def: "A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Filoviridae viruses." [] def: "Infections with viruses of the family filoviridae. The infections in humans consist of a variety of clinically similar viral hemorrhagic fevers but the natural reservoir host is unknown." [MESH:D018702] synonym: "Filoviridae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Filoviridae disease or disorder" EXACT [] synonym: "Filoviridae Infections" EXACT [] synonym: "Filoviridae infectious disease" EXACT [] {comment="preferred label from MONDO"} xref: DOID:4326 xref: MESH:D018702 {source="MONDO:equivalentTo", source="EFO:0007273"} xref: MeSH:D018702 xref: MONDO:0005762 xref: UMLS:C0242917 {source="MONDO:equivalentTo"} is_a: EFO:0007376 ! Mononegavirales infectious disease property_value: exactMatch http://identifiers.org/mesh/D018702 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242917 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007274 name: Flaviviridae infectious disease def: "A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Flaviviridae viruses, which are transmitted_by arthropod vectors." [] def: "Infections with viruses of the family flaviviridae." [MESH:D018178] synonym: "Flaviviridae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Flaviviridae disease or disorder" EXACT [] synonym: "Flaviviridae Infections" EXACT [] synonym: "Flaviviridae infectious disease" EXACT [] {comment="preferred label from MONDO"} xref: DOID:1886 xref: MESH:D018178 {source="MONDO:equivalentTo", source="EFO:0007274"} xref: MeSH:D018178 xref: MONDO:0005763 xref: SCTID:111865007 {source="MONDO:equivalentTo"} is_a: MONDO:0100329 ! primary viral infectious disease property_value: exactMatch http://identifiers.org/mesh/D018178 property_value: exactMatch http://identifiers.org/snomedct/111865007 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007275 name: focal epithelial hyperplasia def: "A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity." [] def: "Hyperplasia characterized by the presence of a focal proliferation of epithelial cells." [NCIT:P378] synonym: "FEH, oral" RELATED [OMIM:229045] synonym: "Focal Epithelial Hyperplasia" EXACT [] synonym: "focal epithelial hyperplasia" EXACT [] {comment="preferred label from MONDO"} synonym: "focal epithelial hyperplasia, oral" RELATED [OMIM:229045] synonym: "Heck disease" EXACT [] synonym: "heck disease" EXACT [DOID:5362, OMIM:229045] synonym: "Heck's disease" EXACT [] synonym: "heck's disease" EXACT [DOID:5362] synonym: "Multifocal epithelial hyperplasia" EXACT [] synonym: "multifocal epithelial hyperplasia" EXACT [DOID:5362] xref: DOID:5362 {source="MONDO:equivalentTo", source="EFO:0007275"} xref: ICD9:528.79 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10076576 xref: MESH:D017573 {source="MONDO:equivalentTo", source="DOID:5362", source="EFO:0007275"} xref: MeSH:D017573 xref: MONDO:0009237 xref: NCIT:C97083 {source="MONDO:equivalentTo", source="DOID:5362"} xref: OMIM:229045 {source="MONDO:equivalentTo", source="DOID:5362"} xref: SCTID:6121001 {source="MONDO:equivalentTo", source="DOID:5362"} xref: UMLS:C0206067 {source="NCIT:C97083", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:5362", source="OMIM:229045"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: EFO:0000536 {source="NCIT:C97083"} ! hyperplasia is_a: EFO:0000763 {source="DOID:5362", source="EFO:0007275", source="MONDO:Redundant"} ! viral disease property_value: exactMatch DOID:5362 property_value: exactMatch http://identifiers.org/mesh/D017573 property_value: exactMatch http://identifiers.org/snomedct/6121001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206067 property_value: exactMatch https://omim.org/entry/229045 property_value: exactMatch NCIT:C97083 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007276 name: follicular dendritic cell sarcoma def: "A neoplasm composed of spindle to ovoid cells which have morphologic and immunophenotypic characteristics of follicular dendritic cells. It affects lymph nodes and other sites including the tonsils, gastrointestinal tract, spleen, liver, soft tissues, skin, and oral cavity. It usually behaves as a low grade sarcoma. Treatment options include complete surgical removal of the tumor with or without adjuvant chemotherapy or radiotherapy. Recurrences have been reported in up to half of the cases." [NCIT:C9281] subset: ordo_disease {source="Orphanet:86902"} synonym: "follicular Dendritic cell sarcoma" EXACT [DOID:6262, NCIT:C9281] synonym: "follicular dendritic cell sarcoma" EXACT [MONDO:patterns/location] synonym: "follicular dendritic cell sarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "follicular dendritic cell sarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "follicular Dendritic cell sarcoma/tumor" EXACT [NCIT:C9281] synonym: "follicular dendritic cell tumor" EXACT [DOID:6262] synonym: "follicular dendritic cell tumour" EXACT OMO:0003005 [] synonym: "follicular dendritic cell tumour" EXACT [DOID:6262] synonym: "sarcoma of follicular dendritic cell" EXACT [MONDO:patterns/sarcoma] xref: DOID:6262 {source="MONDO:equivalentTo", source="EFO:0007276"} xref: EFO:0007276 {source="MONDO:equivalentTo"} xref: ICD10:C96.4 {source="ORDO:86902/ntbt", source="Orphanet:86902", source="DOID:6262"} xref: ICDO:9758/1 {source="NCIT:C9281"} xref: ICDO:9758/3 {source="NCIT:C9281"} xref: MESH:D054740 {source="MONDO:equivalentTo", source="Orphanet:86902", source="DOID:6262", source="EFO:0007276", source="Orphanet:86902/e"} xref: MESH:D054740 {source="MONDO:equivalentTo", source="ORDO:86902/e", source="Orphanet:86902", source="DOID:6262", source="EFO:0007276"} xref: MONDO:0005764 xref: NCIT:C9281 {source="MONDO:equivalentTo", source="DOID:6262"} xref: ONCOTREE:FDCS {source="MONDO:equivalentTo"} xref: Orphanet:86902 {source="MONDO:equivalentTo"} xref: UMLS:C1260325 {source="MONDO:equivalentTo", source="ORDO:86902/e", source="Orphanet:86902", source="DOID:6262", source="NCIT:C9281"} xref: UMLS:C1260325 {source="MONDO:equivalentTo", source="Orphanet:86902", source="DOID:6262", source="NCIT:C9281", source="Orphanet:86902/e"} is_a: MONDO:0004380 {source="DOID:6262", source="MONDO:Redundant"} ! dendritic cell sarcoma is_a: MONDO:0017345 {source="Orphanet:86902"} ! Epstein-Barr virus-associated mesenchymal tumor is_a: MONDO:0020082 {source="Orphanet:86902"} ! dendritic cell tumor relationship: EFO:0000784 CL:0000451 ! has_disease_location dendritic cell property_value: closeMatch http://identifiers.org/snomedct/128816008 property_value: exactMatch DOID:6262 property_value: exactMatch DOID:6262 property_value: exactMatch http://identifiers.org/mesh/D054740 property_value: exactMatch http://identifiers.org/mesh/D054740 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1260325 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1260325 property_value: exactMatch NCIT:C9281 property_value: exactMatch NCIT:C9281 property_value: exactMatch Orphanet:86902 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/sarcoma.yaml [Term] id: EFO:0007277 name: foot and mouth disease def: "A viral infectious disease that results in infection in cattle and swine, has material basis in foot-and-mouth disease virus, which is transmitted by contaminated fomites, or transmitted by ingestion of food contaminated with infected meat or animal products. The infection results in formation of vesicles in the mouth, or on the feet and has symptom lameness." [EFO:0007277] def: "A viral infectious disease that results_in infection in cattle and swine, has_material_basis_in Foot-and-mouth disease virus, which is transmitted_by contaminated fomites, or transmitted_by ingestion of food contaminated with infected meat or animal products. The infection results_in_formation_of vesicles in the mouth, or on the feet and has_symptom lameness." [] synonym: "Epizootic stomatitis" EXACT [] synonym: "foot and mouth disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Foot-and-Mouth Disease" EXACT [] xref: DOID:11261 xref: MedDRA:10016961 xref: MESH:D005536 {source="MONDO:equivalentTo", source="EFO:0007277"} xref: MeSH:D005536 xref: MONDO:0005765 xref: UMLS:C0016514 {source="MONDO:equivalentTo"} is_a: MONDO:0024913 ! cattle disease is_a: MONDO:0024990 ! swine disease is_a: MONDO:0700053 {source="https://orcid.org/0000-0002-4142-7153"} ! viral infectious disease, non-human animal property_value: exactMatch http://identifiers.org/mesh/D005536 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016514 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: RO:0002175 NCBITaxon:9823 {source="ISBN-13:978-0323088398", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} property_value: RO:0002175 NCBITaxon:9913 {source="ISBN-13:978-0323088398", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} [Term] id: EFO:0007278 name: fungal lung infectious disease def: "A lung disease that is a mycosis caused by fungal growth in the lungs." [] def: "Pulmonary diseases caused by fungal infections, usually through hematogenous spread." [MESH:D008172] synonym: "fungal disease, pulmonary" RELATED [MESH:D008172] synonym: "fungal diseases, pulmonary" RELATED [MESH:D008172] synonym: "fungal infection, pulmonary" RELATED [MESH:D008172] synonym: "fungal infections, pulmonary" RELATED [MESH:D008172] synonym: "fungal lung disease" RELATED [MESH:D008172] synonym: "fungal lung diseases" RELATED [MESH:D008172] synonym: "fungal lung infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Fungi caused lung disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Fungi lung disease" EXACT [] synonym: "lung disease, fungal" RELATED [MESH:D008172] synonym: "Lung Diseases, Fungal" EXACT [] synonym: "pulmonary fungal disease" RELATED [MESH:D008172] synonym: "pulmonary fungal diseases" RELATED [MESH:D008172] synonym: "pulmonary fungal infection" RELATED [MESH:D008172] synonym: "pulmonary fungal infections" RELATED [MESH:D008172] xref: DOID:11341 xref: MESH:D008172 {source="MONDO:equivalentTo", source="EFO:0007278"} xref: MeSH:D008172 xref: MONDO:0005766 xref: UMLS:C0024116 {source="MONDO:equivalentTo"} is_a: EFO:0003818 {source="EFO:0007278", source="MESH:D008172", source="MONDO:Redundant"} ! lung disease is_a: MONDO:0002041 {source="MESH:D008172", source="MONDO:Redundant"} ! fungal infectious disease is_a: MONDO:0024355 {source="MESH:D008172", source="MONDO:Redundant"} ! respiratory tract infectious disorder property_value: exactMatch http://identifiers.org/mesh/D008172 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024116 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007279 name: gas gangrene def: "A commensal bacterial infectious disease that results_in infection, located_in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually develops after injuries or surgery. The infection has_symptom large blisters, has_symptom pain in the infected area, has_symptom myonecrosis, has_symptom gas production, and has_symptom sepsis." [] def: "A severe condition resulting from bacteria invading healthy muscle from adjacent traumatized muscle or soft tissue. The infection originates in a wound contaminated with bacteria of the genus clostridium. C. perfringens accounts for the majority of cases (over eighty percent), while C. noyvi, C. septicum, and C. histolyticum cause most of the other cases." [MESH:D005738] synonym: "(Gas gangrene) or (Clostridium infection)" EXACT [] synonym: "Gas bacillus infection" EXACT [] synonym: "gas bacillus infection" EXACT [DOID:9159] synonym: "Gas bacillus infection or gangrene" EXACT [] synonym: "Gas Gangrene" EXACT [] synonym: "gas gangrene" EXACT [DOID:9159] synonym: "gas gangrene" EXACT [] {comment="preferred label from MONDO"} synonym: "Gas gangrene (disorder)" EXACT [] synonym: "Myonecrosis" EXACT [] synonym: "myonecrosis" EXACT [DOID:9159] xref: DOID:9159 {source="EFO:0007279", source="MONDO:equivalentTo"} xref: ICD10CM:A48.0 {source="MONDO:equivalentTo", source="DOID:9159"} xref: ICD9:040.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9159"} xref: MedDRA:10017737 xref: MESH:D005738 {source="EFO:0007279", source="MONDO:equivalentTo", source="DOID:9159"} xref: MeSH:D005738 xref: MONDO:0005767 xref: SCTID:80466000 {source="MONDO:equivalentTo", source="DOID:9159"} xref: UMLS:C0017105 {source="MONDO:equivalentTo", source="DOID:9159"} is_a: EFO:0003033 ! bacteriemia is_a: EFO:1000774 ! vesiculobullous skin disease is_a: MONDO:0000315 {source="DOID:9159"} ! commensal bacterial infectious disease is_a: MONDO:0023149 ! infection due to clostridium perfringens is_a: MONDO:0024295 ! skin disease caused by bacterial infection property_value: exactMatch DOID:9159 property_value: exactMatch http://identifiers.org/mesh/D005738 property_value: exactMatch http://identifiers.org/snomedct/80466000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017105 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A48.0 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007280 name: gastrointestinal tuberculosis def: "An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom change in bowel habits, has_symptom nausea, and has_symptom vomiting." [] def: "Tuberculosis that involves any region of the gastrointestinal tract, mostly in the distal ileum and the cecum. In most cases, mycobacterium tuberculosis is the pathogen. Clinical features include abdominal pain; fever; and palpable mass in the ileocecal area." [MESH:D014385] synonym: "gastrointestinal tuberculosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Tuberculosis of gastrointestinal tract" EXACT [] synonym: "tuberculosis of gastrointestinal tract" EXACT [DOID:404] synonym: "Tuberculosis of gastrointestinal tract (disorder)" EXACT [] synonym: "Tuberculosis of gastrointestinal tract NOS (disorder)" EXACT [] synonym: "tuberculosis of intestines, peritoneum and mesenteric glands" EXACT [DOID:404] synonym: "Tuberculosis of intestines, peritoneum and mesenteric glands (disorder)" EXACT [] synonym: "Tuberculosis of intestines, peritoneum, and mesenteric glands" EXACT [] synonym: "tuberculosis of intestines, peritoneum, and mesenteric glands" EXACT [DOID:404, ICD9CM:014] synonym: "Tuberculosis, Gastrointestinal" EXACT [] xref: DOID:404 {source="MONDO:equivalentTo", source="EFO:0007280"} xref: ICD9:014.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:014.81 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:014.86 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D014385 {source="DOID:404", source="MONDO:equivalentTo", source="EFO:0007280"} xref: MeSH:D014385 xref: MONDO:0005768 xref: SCTID:186225008 {source="MONDO:equivalentTo"} xref: UMLS:C0041312 {source="DOID:404", source="MONDO:equivalentTo"} xref: UMLS:C0152717 {source="MONDO:equivalentTo"} is_a: MONDO:0000368 {source="https://orcid.org/0000-0002-6670-9157"} ! extrapulmonary tuberculosis is_a: MONDO:0043424 ! digestive system infectious disorder relationship: EFO:0000784 UBERON:0001007 ! has_disease_location digestive system property_value: exactMatch DOID:404 property_value: exactMatch http://identifiers.org/mesh/D014385 property_value: exactMatch http://identifiers.org/snomedct/186225008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041312 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152717 property_value: excluded_subClassOf MONDO:0000369 {source="DOID:404"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4143 xsd:anyURI [Term] id: EFO:0007281 name: geniculate herpes zoster def: "A viral ear infection caused by the spread of varicella-zoster virus to the facial nerves. It is characterized by intense otalgia and a cutaneous vesicular eruption." [NCIT:C84763] def: "A viral infectious disease that results_in inflammation located_in facial nerve, which leads to paralysis of one side of the face, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The infection has_symptom vesicular rash of the ear or mouth, has_symptom tinnitus, has_symptom vertigo, has_symptom otalgia, and has_symptom headache." [] subset: ordo_disease {source="Orphanet:3020"} synonym: "(Geniculate herpes zoster) or (Ramsey Hunt syndrome)" EXACT [] synonym: "facial nerve palsy due to herpes zoster infection" EXACT [MONDO:0017606] synonym: "facial nerve palsy due to VZV" EXACT [Orphanet:3020] synonym: "facial nerve paralysis due to VZV" EXACT [Orphanet:3020] synonym: "geniculate herpes zoster" EXACT [] {comment="preferred label from MONDO"} synonym: "geniculate neuralgia" EXACT [DOID:9210] synonym: "Herpes zoster auricularis" EXACT [DOID:9210] synonym: "Herpes zoster auricularis (disorder)" EXACT [] synonym: "Herpes Zoster Oticus" EXACT [DOID:9210, MTH:NOCODE, NCIT:C84763] synonym: "Herpetic geniculate ganglionitis" EXACT [] synonym: "herpetic geniculate ganglionitis" EXACT [DOID:9210] synonym: "Hunt syndrome (formerly)" RELATED [GARD:0007525] synonym: "Hunt's syndrome (formerly)" RELATED [GARD:0007525] synonym: "nervus intermedius neuralgia" EXACT [DOID:9210] synonym: "Ramsay Hunt syndrome" EXACT [Orphanet:3020] synonym: "Ramsay Hunt syndrome type 2" EXACT [] synonym: "Ramsay Hunt syndrome type 2" RELATED [DOID:9210] synonym: "Ramsay Hunt syndrome type 2 (formerly)" RELATED [GARD:0007525] synonym: "Ramsay Hunt syndrome type II" EXACT [] synonym: "Ramsay Hunt syndrome type II" RELATED [DOID:9210] synonym: "Ramsey Hunt syndrome" EXACT [DOID:9210] xref: DOID:9210 {source="EFO:0007281", source="MONDO:equivalentTo"} xref: ICD10EXP:B02.2+ {source="Orphanet:3020/ntbt", source="Orphanet:3020"} xref: ICD10EXP:G53.0* {source="Orphanet:3020/ntbt", source="Orphanet:3020"} xref: ICD9:053.11 {source="DOID:9210"} xref: ICD9:351.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10018141 xref: MeSH:D016697 xref: MONDO:0005769 xref: NCIT:C84763 {source="MONDO:equivalentTo", source="DOID:9210"} xref: Orphanet:3020 {source="MONDO:equivalentTo"} xref: SCTID:95670000 {source="MONDO:equivalentTo"} xref: UMLS:C0017409 {source="MONDO:relatedTo", source="DOID:9210", source="Orphanet:3020", source="NCIT:C84763"} xref: UMLS:C0458220 {source="MONDO:equivalentTo"} is_a: EFO:0006510 {source="EFO:0007281"} ! Herpes Zoster is_a: EFO:0007167 ! Bell's palsy is_a: MONDO:0021666 {source="NCIT:C84763"} ! ear infection is_a: MONDO:0024318 ! viral infection of central nervous system property_value: exactMatch DOID:9210 property_value: exactMatch http://identifiers.org/snomedct/95670000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0458220 property_value: exactMatch NCIT:C84763 property_value: exactMatch Orphanet:3020 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4637 xsd:anyURI property_value: relatedMatch http://linkedlifedata.com/resource/umls/id/C0017409 [Term] id: EFO:0007282 name: genital herpes def: "A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands." [] def: "Herpes simplex infection of the genitals, most commonly caused by the herpes simplex-2 virus." [NCIT:C14364] synonym: "genital herpes" EXACT [] {comment="preferred label from MONDO"} synonym: "genital herpes simplex" EXACT [DOID:8704] synonym: "Genital herpes simplex (disorder)" EXACT [] synonym: "HERPES GENITALIA" EXACT [] synonym: "herpes genitalia" EXACT [DOID:8704, MTH:363] synonym: "Herpes Genitalis" EXACT [] synonym: "herpes genitalis" EXACT [DOID:8704, MTH:328] synonym: "venereal herpes" EXACT [DOID:8704] synonym: "Virus-Genital Herpes" EXACT [] synonym: "virus-genital herpes" EXACT [DOID:8704, NCIT:C14364] xref: DOID:8704 {source="MONDO:equivalentTo", source="EFO:0007282"} xref: ICD10:A60 xref: ICD9:054.1 {source="DOID:8704"} xref: ICD9:054.10 {source="MONDO:equivalentTo", source="DOID:8704", source="MONDO:i2s"} xref: ICD9:054.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10018150 xref: MedDRA:10018151 xref: MESH:D006558 {source="MONDO:equivalentTo", source="DOID:8704", source="EFO:0007282"} xref: MeSH:D006558 xref: MONDO:0005770 xref: NCIT:C14364 {source="MONDO:equivalentTo", source="DOID:8704"} xref: SCTID:33839006 {source="MONDO:equivalentTo", source="DOID:8704"} xref: UMLS:C0019342 {source="NCIT:C14364", source="MONDO:equivalentTo", source="DOID:8704"} is_a: EFO:1002022 {source="DOID:8704", source="MESH:D006558", source="MONDO:Redundant"} ! Herpes simplex infection is_a: MONDO:0021682 {source="MESH:D006558"} ! viral sexually transmitted disease is_a: MONDO:0100330 ! disease arising from reactivation of latent virus property_value: exactMatch DOID:8704 property_value: exactMatch http://identifiers.org/mesh/D006558 property_value: exactMatch http://identifiers.org/snomedct/33839006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019342 property_value: exactMatch NCIT:C14364 property_value: excluded_subClassOf MONDO:0003150 {source="MESH:D006558", source="MESH:D006558/inferred"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3348 xsd:anyURI [Term] id: EFO:0007283 name: geographic tongue def: "A benign condition characterized by the development of irregular patches in the surface of the tongue resulting in a map-like appearance. The patches migrate from day to day and usually resolve without treatment." [NCIT:P378] def: "An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface." [] synonym: "benign migratory glossitis" EXACT [DOID:1455] synonym: "geographic tongue" EXACT [] {comment="preferred label from MONDO"} synonym: "Glossitis areata exfoliativa" EXACT [] synonym: "glossitis areata exfoliativa" EXACT [DOID:1455] synonym: "Glossitis, Benign Migratory" EXACT [] synonym: "Pityriasis linguae" EXACT [DOID:1455] xref: DOID:1455 {source="MONDO:equivalentTo", source="EFO:0007283"} xref: ICD10CM:K14.1 {source="MONDO:equivalentTo", source="DOID:1455"} xref: ICD9:529.1 {source="MONDO:equivalentTo", source="DOID:1455", source="MONDO:i2s"} xref: MedDRA:10018201 xref: MeSH:D005929 xref: MONDO:0005771 xref: NCIT:C84588 {source="MONDO:equivalentTo", source="DOID:1455"} xref: SCTID:59032001 {source="MONDO:equivalentTo", source="DOID:1455"} xref: UMLS:C0017677 {source="MONDO:equivalentTo", source="DOID:1455"} is_a: MONDO:0001989 {source="DOID:1455"} ! atrophic glossitis relationship: RO:0000056 GO:0006954 ! participates_in inflammatory response property_value: exactMatch DOID:1455 property_value: exactMatch http://identifiers.org/snomedct/59032001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017677 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K14.1 property_value: exactMatch NCIT:C84588 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007284 name: geotrichosis def: "An opportunistic mycosis that has_material_basis_in Galactomyces geotrichum, results_in systemic infection in immunocompromised people." [] def: "Infection due to the fungus Geotrichum." [MESH:D005847] synonym: "Geotrichosis" EXACT [] synonym: "geotrichosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Geotrichosis (disorder)" EXACT [] xref: DOID:2832 {source="MONDO:equivalentTo", source="EFO:0007284"} xref: ICD10CM:B48.3 {source="MONDO:equivalentTo", source="DOID:2832"} xref: ICD9:117.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D005847 {source="MONDO:equivalentTo", source="DOID:2832", source="EFO:0007284"} xref: MeSH:D005847 xref: MONDO:0005772 xref: SCTID:13969006 {source="MONDO:equivalentTo", source="DOID:2832"} xref: UMLS:C0017455 {source="MONDO:equivalentTo", source="DOID:2832"} is_a: EFO:0000540 ! immune system disease is_a: MONDO:0002312 {source="DOID:2832"} ! opportunistic mycosis property_value: exactMatch DOID:2832 property_value: exactMatch http://identifiers.org/mesh/D005847 property_value: exactMatch http://identifiers.org/snomedct/13969006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017455 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B48.3 property_value: excluded_subClassOf MONDO:0005046 {source="EFO:0007284"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007285 name: Gerstmann syndrome def: "A nervous system disease that results_from damage located_in left parietal lobe, has_symptom agraphia, has_symptom acalculia, has_symptom finger agnosia." [] def: "Gerstmann syndrome is a very rare neurological disorder characterized by the specific association of acalculia, finger agnosia, left-right disorientation, and agraphia, which is supposed to be secondary to a focal subcortical white matter damage in the parietal lobe." [Orphanet:221117] subset: gard_rare {source="GARD:0008660"} subset: ordo_disease {source="Orphanet:221117"} synonym: "aphasia-angular gyrus syndrome" EXACT [DOID:4969] synonym: "Aphasia-angular gyrus syndrome (disorder)" EXACT [] synonym: "developmental Gerstmann syndrome" RELATED [GARD:0008660] synonym: "Gerstmann Badal syndrome" RELATED [GARD:0008660] synonym: "Gerstmann Syndrome" EXACT [] synonym: "Gerstmann syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Gerstmann tetrad" RELATED [GARD:0008660] synonym: "GS" RELATED ABBREVIATION [GARD:0008660] xref: DOID:4969 {source="MONDO:equivalentTo", source="EFO:0007285"} xref: ICD9:784.69 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10048608 {source="Orphanet:221117", source="DOID:4969", source="Orphanet:221117/e"} xref: MESH:D005862 {source="MONDO:equivalentTo", source="Orphanet:221117", source="DOID:4969", source="EFO:0007285", source="Orphanet:221117/e"} xref: MeSH:D005862 xref: MONDO:0005773 xref: Orphanet:221117 {source="MONDO:equivalentTo", source="DOID:4969"} xref: SCTID:36785009 {source="MONDO:equivalentTo", source="DOID:4969"} is_a: EFO:0000618 {source="Orphanet:221117"} ! nervous system disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0020009"} ! rare property_value: closeMatch http://identifiers.org/meddra/10048608 property_value: exactMatch DOID:4969 property_value: exactMatch http://identifiers.org/mesh/D005862 property_value: exactMatch http://identifiers.org/snomedct/36785009 property_value: exactMatch Orphanet:221117 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8660/gerstmann-syndrome xsd:anyURI {source="GARD:0008660"} [Term] id: EFO:0007286 name: glanders def: "A condition resulting from infection by Burkholderia mallei, which mainly affects horses." [NCIT:P378] def: "A primary bacterial infectious disease that results_in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted_by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has_symptom fever, has_symptom chills, has_symptom sweating, has_symptom muscle aches, has_symptom chest pain, has_symptom muscle tightness, has_symptom headache, has_symptom mucopurulent nasal discharge, and has_symptom nodular lesions in the lungs." [] subset: gard_rare {source="GARD:0009536"} synonym: "Burkholderia mallei" RELATED [GARD:0009536] synonym: "Burkholderia mallei caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Burkholderia mallei disease or disorder" EXACT [] synonym: "Burkholderia mallei infection" RELATED [GARD:0009536] synonym: "Burkholderia mallei infectious disease" EXACT [] synonym: "Farcy pipes" EXACT [] synonym: "farcy pipes" EXACT [DOID:13444] synonym: "Glanders" EXACT [] synonym: "glanders" EXACT [] {comment="preferred label from MONDO"} synonym: "glanders (disorder)" EXACT [] synonym: "Infection due to Pseudomonas mallei" EXACT [] synonym: "infection due to Pseudomonas mallei" EXACT [DOID:13444] xref: DOID:13444 {source="MONDO:equivalentTo", source="EFO:0007286"} xref: ICD10CM:A24.0 {source="MONDO:equivalentTo", source="DOID:13444"} xref: ICD9:024 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13444"} xref: MedDRA:10018298 xref: MESH:D005896 {source="MONDO:equivalentTo", source="DOID:13444", source="EFO:0007286"} xref: MeSH:D005896 xref: MONDO:0005774 xref: NCIT:C34638 {source="MONDO:equivalentTo", source="DOID:13444"} xref: SCTID:4639008 {source="MONDO:equivalentTo", source="DOID:13444"} xref: UMLS:C0017589 {source="NCIT:C34638", source="MONDO:equivalentTo", source="DOID:13444"} is_a: MONDO:0000314 {source="DOID:13444"} ! primary bacterial infectious disease is_a: MONDO:0043953 ! burkholderia infectious disease property_value: exactMatch DOID:13444 property_value: exactMatch http://identifiers.org/mesh/D005896 property_value: exactMatch http://identifiers.org/snomedct/4639008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017589 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A24.0 property_value: exactMatch NCIT:C34638 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9536/glanders xsd:anyURI {source="GARD:0009536"} [Term] id: EFO:0007287 name: glucosephosphate dehydrogenase deficiency def: "A carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH)." [] def: "An X-linked genetic condition caused by alterations in the gene G6PD that result in moderately to severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Most individuals with G6PD deficiency are asymptomatic. Individuals with G6PD variants that cause G6PD deficiency are at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans." [https://www.clinicalgenome.org/affiliation/40026] synonym: "deficiency of G-6PD" EXACT [DOID:2862] synonym: "G-6-PD variant enzyme deficiency Anaemia" EXACT OMO:0003005 [] synonym: "G-6-PD variant enzyme deficiency Anemia" EXACT [NCIT:C98933] synonym: "G6PD" EXACT ABBREVIATION [NCIT:C98933] synonym: "G6PD deficiency" EXACT [NCIT:C98933] synonym: "G6PD deficiency" EXACT [] {comment="preferred label from MONDO"} synonym: "Glucose-6-phosphate dehydrogenase deficiency" EXACT [] synonym: "glucose-6-phosphate dehydrogenase deficiency" EXACT [DOID:2862] synonym: "Glucosephosphate Dehydrogenase Deficiency" EXACT [] synonym: "glucosephosphate dehydrogenase deficiency" EXACT [https://github.com/monarch-initiative/mondo/issues/1117] synonym: "inborn error of glucose-6-phosphate dehydrogenase activity" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn glucose-6-phosphate dehydrogenase activity disorder" EXACT [] synonym: "rare inborn error of glucose-6-phosphate dehydrogenase activity" EXACT [MONDO:patterns/inborn_metabolic] xref: DOID:2862 {source="MONDO:equivalentTo", source="EFO:0007287"} xref: MESH:D005955 {source="DOID:2862", source="MONDO:equivalentTo", source="EFO:0007287"} xref: MeSH:D005955 xref: MONDO:0005775 xref: NCIT:C98933 {source="DOID:2862", source="MONDO:equivalentTo"} xref: SCTID:62403005 {source="DOID:2862", source="MONDO:equivalentTo"} xref: UMLS:C2939465 {source="NCIT:C98933", source="DOID:2862", source="MONDO:equivalentTo"} is_a: MONDO:0019214 {source="DOID:2862", source="EFO:0007287", source="MESH:D005955"} ! inborn carbohydrate metabolic disorder is_a: Orphanet:79161 ! Disorder of carbohydrate metabolism property_value: exactMatch DOID:2862 property_value: exactMatch http://identifiers.org/mesh/D005955 property_value: exactMatch http://identifiers.org/snomedct/62403005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2939465 property_value: exactMatch NCIT:C98933 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6252 xsd:anyURI [Term] id: EFO:0007288 name: obsolete_glycogen storage disease I def: "A glycogen storage disease that has_material_basis_in deficiency of the glucose-6-phosphatase enzyme which impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis and is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly." [] synonym: "deficiency of glucose-6-phosphatase" EXACT [] synonym: "Glycogen Storage Disease Type I" EXACT [] synonym: "glycogen storage disease type I" EXACT [] synonym: "Glycogen storage disease, type I (disorder)" EXACT [] synonym: "glycogenosis type I" EXACT [] synonym: "von Gierke disease" EXACT [] synonym: "von Gierke's disease" EXACT [] xref: DOID:2749 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.70" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate. Use Orphanet_364 Glycogen storage disease due to glucose-6-phosphatase deficiency." xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_364 [Term] id: EFO:0007289 name: gnathomiasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis." [] def: "An infection that is caused by nematodes of the genus Gnathostoma, which is commonly found in Southeast Asia, and which is transmitted via the consumption of contaminated raw/undercooked birds, eels, fish, frogs, or reptiles. The pattern of symptoms is species-dependent, and extraintestinal manifestations are due to larval migration (e.g., pulmonary infiltrates, eosinophilic meningitis, or painful, pruritic subcutaneous swellings, and peripheral blood eosinophilia)." [NCIT:C128395] synonym: "gnathomiasis" EXACT [] {comment="preferred label from MONDO"} synonym: "Gnathostoma infection" RELATED [GARD:0009286] synonym: "Gnathostomiasis" EXACT [DOID:11379, ICD9CM:128.1] synonym: "infectious disease by Gnathostoma" EXACT [DOID:11379] synonym: "Infectious Disease by Gnathostoma (disorder)" EXACT [] xref: DOID:11379 {source="MONDO:equivalentTo", source="EFO:0007289"} xref: ICD10CM:B83.1 {source="DOID:11379", source="MONDO:equivalentTo"} xref: ICD9:128.1 {source="DOID:11379", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D058429 {source="DOID:11379", source="MONDO:equivalentTo", source="EFO:0007289"} xref: MeSH:D058429 xref: MONDO:0005776 xref: NCIT:C128395 {source="MONDO:equivalentTo"} xref: SCTID:44086001 {source="DOID:11379", source="MONDO:equivalentTo"} xref: UMLS:C0018013 {source="DOID:11379", source="NCIT:C128395", source="MONDO:equivalentTo"} is_a: EFO:1001342 {source="DOID:11379", source="ICD10CM:B83.1/inferred", source="MESH:D058429/inferred"} ! Helminthiasis property_value: exactMatch DOID:11379 property_value: exactMatch http://identifiers.org/mesh/D058429 property_value: exactMatch http://identifiers.org/snomedct/44086001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018013 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B83.1 property_value: exactMatch NCIT:C128395 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007290 name: Goodpasture syndrome def: "A hypersensitivity reaction type II disease that is characterized by glomerulonephritis located_in kidney and hemorrhaging located_in lung." [] def: "An autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis. Some use the term 'Goodpasture syndrome' for the findings of glomerulonephritis and pulmonary hemorrhage and the term 'Goodpasture disease' for those patients with glomerulonephritis, pulmonary hemorrhage, and anti-GBM antibodies. Currently, the preferred term for both conditions is “ anti-GBM antibody disease ”. Circulating antibodies are directed against the collagen of the part of the kidney known as the glomerular basement membrane (GBM), resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveoli) resulting in bleeding of the lung (pulmonary hemorrhage). Symptoms may include general body discomfort or pain, bleeding from the nose and/or blood in the urine, respiratory problems, anemia, chest pain, and kidney failure. Anti-GBM disease is thought to result from an environmental insult (smoking, infections, exposure to certain drugs) in a person with genetic susceptibility, such as a specific human leukocyte antigen (HLA) type. Diagnosis is confirmed with the presence of anti-GBM antibody in the blood or in the kidney. The treatment of choice is plasmapheresis in conjunction with prednisone and cyclophosphamide." [https://rarediseases.info.nih.gov/diseases/2551/goodpasture-syndrome] subset: gard_rare {source="GARD:0002551"} subset: ordo_disease {source="Orphanet:375"} synonym: "anti-GBM syndrome" EXACT [Orphanet:375] synonym: "anti-glomerular basement membrane antibody disease" RELATED [GARD:0002551] synonym: "Anti-Glomerular Basement Membrane Disease" EXACT [] synonym: "anti-glomerular basement membrane disease" EXACT [] {comment="preferred label from MONDO"} synonym: "anti-glomerular basement membrane disease" EXACT [DOID:9808] synonym: "glomerulonephritis - pulmonary haemorrhage" RELATED OMO:0003005 [] synonym: "glomerulonephritis - pulmonary hemorrhage" RELATED [GARD:0002551] synonym: "Goodpasture syndrome" EXACT [OMIM:233450, Orphanet:375] synonym: "pulmonary renal syndrome" RELATED [GARD:0002551] synonym: "rapidly progressive glomerulonephritis with pulmonary haemorrhage" RELATED OMO:0003005 [] synonym: "rapidly progressive glomerulonephritis with pulmonary hemorrhage" RELATED [GARD:0002551] xref: DOID:9808 {source="EFO:0007290", source="MONDO:equivalentTo"} xref: ICD10EXP:M31.0+ {source="Orphanet:375/e", source="Orphanet:375"} xref: ICD10EXP:N08.5* {source="Orphanet:375/e", source="Orphanet:375"} xref: ICD9:446.21 {source="DOID:9808"} xref: MedDRA:10018620 {source="Orphanet:375/e", source="Orphanet:375"} xref: MESH:D019867 {source="EFO:0007290", source="MONDO:equivalentTo", source="DOID:9808"} xref: MeSH:D019867 xref: MONDO:0009303 xref: NCIT:C84566 {source="MONDO:equivalentTo", source="DOID:9808"} xref: OMIM:233450 {source="Orphanet:375/e", source="MONDO:equivalentTo", source="DOID:9808", source="Orphanet:375"} xref: Orphanet:375 {source="OMIM:233450", source="MONDO:equivalentTo"} xref: SCTID:236432001 {source="MONDO:equivalentTo"} xref: UMLS:C0403529 {source="Orphanet:375/e", source="OMIM:233450", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:9808", source="Orphanet:375", source="NCIT:C84566"} is_a: EFO:0005809 {source="DOID:9808", source="EFO:0007290", source="MESH:D019867", source="MONDO:Redundant", source="NCIT:C84566"} ! type II hypersensitivity reaction disease property_value: closeMatch http://identifiers.org/meddra/10018620 property_value: exactMatch DOID:9808 property_value: exactMatch http://identifiers.org/mesh/D019867 property_value: exactMatch http://identifiers.org/snomedct/236432001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0403529 property_value: exactMatch https://omim.org/entry/233450 property_value: exactMatch NCIT:C84566 property_value: exactMatch Orphanet:375 property_value: excluded_subClassOf MONDO:0015490 {source="Orphanet:375"} property_value: excluded_subClassOf MONDO:0017035 {source="Orphanet:375"} property_value: excluded_subClassOf MONDO:0019724 {source="Orphanet:375"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2551/goodpasture-syndrome xsd:anyURI {source="GARD:0002551"} [Term] id: EFO:0007291 name: granuloma inguinale def: "A condition resulting from infection by Klebsiella granulomati, which is characterized by ulcerative lesions of the genitalia." [NCIT:P378] def: "A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers." [] subset: gard_rare {source="GARD:0009532"} synonym: "(Granuloma inguinale) or (donovanosis) or (pudendal ulcer)" EXACT [] synonym: "donovanosis" EXACT [DOID:9113] synonym: "Granuloma Inguinale" EXACT [] synonym: "granuloma inguinale" EXACT [DOID:9113, NCIT:C3065] synonym: "granuloma inguinale" EXACT [] {comment="preferred label from MONDO"} synonym: "Granuloma inguinale (disorder)" EXACT [] synonym: "Pudendal ulcer" EXACT [] synonym: "pudendal ulcer" EXACT [DOID:9113] xref: DOID:9113 {source="MONDO:equivalentTo", source="EFO:0007291"} xref: ICD10:A58 xref: ICD10CM:A58 {source="MONDO:equivalentTo", source="DOID:9113"} xref: ICD9:099.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9113"} xref: MedDRA:10018693 xref: MESH:D006100 {source="MONDO:equivalentTo", source="EFO:0007291", source="DOID:9113"} xref: MeSH:D006100 xref: MONDO:0005777 xref: NCIT:C3065 {source="MONDO:equivalentTo", source="DOID:9113"} xref: SCTID:28867007 {source="MONDO:equivalentTo", source="DOID:9113"} xref: UMLS:C0018190 {source="NCIT:C3065", source="MONDO:equivalentTo", source="DOID:9113"} is_a: EFO:0003955 {source="MESH:D006100"} ! bacterial sexually transmitted disease is_a: MONDO:0000314 {source="DOID:9113"} ! primary bacterial infectious disease is_a: MONDO:0030603 ! Klebsiella infectious disease property_value: exactMatch DOID:9113 property_value: exactMatch http://identifiers.org/mesh/D006100 property_value: exactMatch http://identifiers.org/snomedct/28867007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018190 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A58 property_value: exactMatch NCIT:C3065 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9532/granuloma-inguinale xsd:anyURI {source="GARD:0009532"} [Term] id: EFO:0007292 name: Guillain-Barre syndrome def: "A spectrum of rare post-infectious neuropathies that usually occur in otherwise healthy patients. GBS is clinically heterogeneous and encompasses acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), Miller-Fisher syndrome (MFS) and some other regional variants." [Orphanet:2103] def: "An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:2103"} synonym: "acute autoimmune peripheral neuropathy" RELATED [GARD:0006554] synonym: "acute immune-mediated polyneuropathy" RELATED [GARD:0006554] synonym: "acute inf. polyneuritis" EXACT [] synonym: "acute Infective Polyneuritis" EXACT [] synonym: "acute infective polyneuritis" EXACT [] synonym: "acute infective polyneuritis (disorder)" EXACT [] synonym: "acute infective polyneuritis NOS (disorder)" EXACT [] synonym: "acute inflammatory demyelinating polyneuropathy" RELATED [GARD:0006554] synonym: "acute inflammatory neuropathy" RELATED [GARD:0006554] synonym: "acute postinfectious polyneuropathy" EXACT [DOID:12842] synonym: "GBS" EXACT ABBREVIATION [Orphanet:2103] synonym: "Guillain Barre syndrome" EXACT [NCIT:C116345] synonym: "Guillain Barré syndrome" EXACT [NCIT:C116345] synonym: "Guillain-Barre Syndrome" EXACT [] synonym: "Guillain-Barre syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Guillain-Barre syndrome (disorder)" EXACT [] synonym: "Guillain-Barre-Strohl syndrome" EXACT [Orphanet:2103] synonym: "Guillain-Barré syndrome" EXACT [Orphanet:2103] synonym: "Guillain-Barré-Strohl syndrome" EXACT [Orphanet:2103] synonym: "Infectious neuronitis (disorder)" EXACT [] synonym: "Landry's ascending paralysis" RELATED [GARD:0006554] synonym: "Landry-Guillain-Barre-Strohl syndrome" RELATED [GARD:0006554] synonym: "post-infectious polyneuritis" NARROW [DOID:12842] synonym: "Post-infectious polyneuritis (disorder)" EXACT [] synonym: "post-infective polyneuritis" NARROW [GARD:0006554] synonym: "Postinfectious polyneuritis" EXACT [] synonym: "postinfectious polyneuritis" NARROW [DOID:12842] xref: DOID:12842 {source="EFO:0007292", source="MONDO:equivalentTo"} xref: ICD10CM:G61.0 {source="DOID:12842", source="Orphanet:2103", source="MONDO:equivalentTo", source="Orphanet:2103/e"} xref: MedDRA:10018767 {source="Orphanet:2103", source="Orphanet:2103/e"} xref: MESH:D020275 {source="DOID:12842", source="Orphanet:2103", source="EFO:0007292", source="MONDO:equivalentTo", source="Orphanet:2103/e"} xref: MeSH:D020275 xref: MONDO:0016218 xref: NCIT:C116345 {source="DOID:12842", source="MONDO:equivalentTo"} xref: Orphanet:2103 {source="MONDO:equivalentTo"} xref: SCTID:40956001 {source="MONDO:equivalentTo"} xref: UMLS:C0018378 {source="DOID:12842", source="Orphanet:2103", source="MONDO:equivalentTo", source="NCIT:C116345", source="Orphanet:2103/e", source="OMIM:139393"} is_a: EFO:0005140 ! autoimmune disease is_a: MONDO:0000590 {source="DOID:12842", source="MONDO:Entailed", source="MONDO:indirect"} ! autoimmune disorder of peripheral nervous system is_a: MONDO:0002254 {source="NCIT:C116345"} ! syndromic disease property_value: closeMatch http://identifiers.org/meddra/10018767 property_value: definition:citation http://www.orpha.net/ORDO/Orphanet_2103 xsd:string property_value: exactMatch DOID:12842 property_value: exactMatch http://identifiers.org/mesh/D020275 property_value: exactMatch http://identifiers.org/snomedct/40956001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018378 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G61.0 property_value: exactMatch NCIT:C116345 property_value: exactMatch Orphanet:2103 property_value: excluded_subClassOf MONDO:0016137 {source="Orphanet:2103"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007293 name: haemonchiasis def: "A trichostrongyloidiasis that involves parasitic infection of the ruminant abomasum by nematodes of the genus Haemonchus resulting in anemia, dehydration, diarrhea and accumulation of fluid in the abdomen, gut wall, thoracic cavity and submandibular tissue." [] def: "Infection with nematodes of the genus haemonchus, characterized by digestive abnormalities and anemia similar to that from hookworm infestation." [MESH:D006188] synonym: "Haemonchiasis" EXACT [] synonym: "haemonchiasis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:3332 {source="MONDO:equivalentTo", source="EFO:0007293"} xref: MESH:D006188 {source="DOID:3332", source="MONDO:equivalentTo", source="EFO:0007293"} xref: MeSH:D006188 xref: MONDO:0005778 xref: UMLS:C0018477 {source="DOID:3332", source="MONDO:equivalentTo"} is_a: EFO:0007522 {source="DOID:3332", source="MESH:D006188"} ! trichostrongyloidiasis property_value: exactMatch DOID:3332 property_value: exactMatch http://identifiers.org/mesh/D006188 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018477 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007294 name: hand, foot and mouth disease def: "A clinical syndrome that is usually caused by enterovirus infection, and that is characterized by fever, anorexia, and painful sores in the mouth, distal extremities, and/or other sites, including the buttocks." [NCIT:C128439] def: "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human coxsackievirus A16 or has_material_basis_in Human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet." [] synonym: "hand foot and mouth disease" EXACT [NCIT:C128439] synonym: "Hand, Foot and Mouth Disease" EXACT [] synonym: "hand, foot and mouth disease" EXACT [] {comment="preferred label from MONDO"} synonym: "hand, foot, and mouth disease" EXACT [NCIT:C128439] synonym: "HFMD" EXACT ABBREVIATION [NCIT:C128439] synonym: "Vesicular stomatitis and exanthem" EXACT [] synonym: "vesicular stomatitis and exanthem" EXACT [DOID:10881] xref: DOID:10881 {source="MONDO:equivalentTo", source="EFO:0007294"} xref: ICD9:074.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10881"} xref: MESH:D006232 {source="MONDO:equivalentTo", source="EFO:0007294", source="DOID:10881"} xref: MeSH:D006232 xref: MONDO:0005779 xref: NCIT:C128439 {source="MONDO:equivalentTo"} xref: SCTID:266108008 {source="MONDO:equivalentTo", source="DOID:10881"} xref: UMLS:C0018572 {source="MONDO:equivalentTo", source="NCIT:C128439", source="DOID:10881"} is_a: EFO:0007226 {source="UMLS:C0018572"} ! coxsackievirus infectious disease is_a: MONDO:0024294 ! skin disorder caused by infection property_value: exactMatch DOID:10881 property_value: exactMatch http://identifiers.org/mesh/D006232 property_value: exactMatch http://identifiers.org/snomedct/266108008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018572 property_value: exactMatch NCIT:C128439 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3205 xsd:anyURI [Term] id: EFO:0007295 name: Hantavirus infectious disease alt_id: MONDO:0042492 def: "A viral infectious disease that results_in infection, located_in lungs or located_in kidney, has_material_basis_in Hantavirus, which is transmitted_by rodents. The infection has_symptom renal failure, has_symptom hemorrhagic manifestations, and has_symptom pulmonary edema." [] def: "Any infection caused by a virus of the genus Hantavirus, which is transmitted by aerosolized rodent excreta or rodent bites, that can result in a variety of clinical manifestations from hemorrhagic fever with renal syndrome to a pulmonary syndrome." [NCIT:C3899] synonym: "disease caused by hantavirus" RELATED [] synonym: "disease due to hantavirus" EXACT [] synonym: "Hantavirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Hantavirus disease or disorder" EXACT [] synonym: "Hantavirus infection" EXACT [MESH:D018778, NCIT:C3899] synonym: "Hantavirus Infections" EXACT [] synonym: "Hantavirus infectious disease" EXACT [] synonym: "hantavirus infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "infections, Hantavirus" RELATED [MESH:D018778] xref: DOID:2880 xref: ICD9:079.81 xref: MESH:D018778 {source="MONDO:equivalentTo", source="EFO:0007295"} xref: MeSH:D018778 xref: MONDO:0005780 xref: NCIT:C3899 {source="MONDO:equivalentTo"} xref: SCTID:359761005 {source="MONDO:equivalentTo"} xref: UMLS:C0242994 {source="MONDO:equivalentTo", source="NCIT:C3899"} is_a: EFO:0007188 {source="MESH:D018778", source="MONDO:Redundant"} ! Bunyaviridae infectious disease property_value: exactMatch http://identifiers.org/mesh/D018778 property_value: exactMatch http://identifiers.org/snomedct/359761005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242994 property_value: exactMatch NCIT:C3899 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007296 name: hantavirus pulmonary syndrome def: "A viral infectious disease that results_in infection located_in lung, has_material_basis_in Sin Nombre virus, transmitted_by deer mouse (Myodes glareolus), has_material_basis_in Black Creek Canal virus, transmitted_by cotton rat (Sigmodon hispidus), has_material_basis_in Bayou virus, transmitted_by marsh rice rat (Oryzomys palustris), has_material_basis_in Laguna Negra virus, transmitted_by small vesper mouse (Calomys laucha), or has_material_basis_in Andes virus, transmitted_by rice rat (Oligoryzomys longicaudatus). The infection has_symptom fever, has_symptom muscle pain, has_symptom headache, has_symptom cough, has_symptom vomiting, has_symptom chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications." [] def: "An infection caused by Hantaviruses. It manifests with flu-like symptoms but it rapidly progresses to life-threatening respiratory problems." [NCIT:P378] subset: gard_rare subset: ordo_disease {source="Orphanet:319247"} synonym: "four corners hantavirus" RELATED [GARD:0000069] synonym: "Hantavirus" RELATED [GARD:0000069] synonym: "Hantavirus Pulmonary Syndrome" EXACT [] synonym: "hantavirus pulmonary syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Hantavirus-associated respiratory distress syndrome" RELATED [GARD:0000069] synonym: "HARDS" RELATED ABBREVIATION [GARD:0000069] xref: DOID:14472 {source="MONDO:equivalentTo", source="EFO:0007296"} xref: ICD10EXP:B33.4+ {source="Orphanet:319247/e", source="Orphanet:319247"} xref: ICD10EXP:J17.1* {source="Orphanet:319247/e", source="Orphanet:319247"} xref: ICD9:480.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10019143 {source="Orphanet:319247/e", source="Orphanet:319247"} xref: MedDRA:10056320 xref: MESH:D018804 {source="DOID:14472", source="MONDO:equivalentTo", source="EFO:0007296"} xref: MeSH:D018804 xref: MONDO:0017879 xref: NCIT:C84747 {source="DOID:14472", source="MONDO:equivalentTo"} xref: Orphanet:319247 {source="MONDO:equivalentTo"} xref: SCTID:120639003 {source="DOID:14472", source="MONDO:equivalentTo"} xref: UMLS:C0243025 {source="Orphanet:319247/e", source="GARD:0000069", source="NCIT:C84747", source="DOID:14472", source="MONDO:equivalentTo", source="Orphanet:319247"} is_a: EFO:0003818 ! lung disease is_a: EFO:0007295 {source="MESH:D018804", source="MONDO:Redundant", source="NCIT:C84747"} ! Hantavirus infectious disease is_a: MONDO:0002254 {source="NCIT:C84747"} ! syndromic disease is_a: MONDO:0018087 {source="Orphanet:319247"} ! viral hemorrhagic fever is_a: MONDO:0024352 ! viral respiratory tract infection is_a: MONDO:0100120 ! vector-borne disease property_value: closeMatch http://identifiers.org/meddra/10019143 property_value: exactMatch DOID:14472 property_value: exactMatch http://identifiers.org/mesh/D018804 property_value: exactMatch http://identifiers.org/snomedct/120639003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0243025 property_value: exactMatch NCIT:C84747 property_value: exactMatch Orphanet:319247 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007297 name: HELLP syndrome def: "A life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: H emolysis, E levated L iver enzyme levels, and L ow P latelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue; malaise; fluid retention and excess weight gain; headache; nausea and vomiting; pain in the upper right or middle of the abdomen; blurry vision; and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia. If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby.The main treatment is to deliver the baby as soon as possible, even if premature. Treatment may also include medications needed for the mother or baby, and blood transfusion for severe bleeding problems." [https://rarediseases.info.nih.gov/diseases/8528/hellp-syndrome] def: "A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count." [] subset: gard_rare {source="GARD:0008528"} subset: ordo_disease {source="Orphanet:244242"} synonym: "HELLP Syndrome" EXACT [] synonym: "HELLP syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "HELLP syndrome (disorder)" EXACT [] synonym: "hemolysis, elevated liver enzymes, and low platelet count" RELATED [OMIM:189800] synonym: "hemolysis, elevated liver enzymes, low platelets in pregnancy" EXACT [Orphanet:244242] synonym: "hemolysis, elevated liver enzymes, lowered platelets" RELATED [GARD:0008528] synonym: "hemolysis-elevated liver enzymes-low platelet count syndrome" EXACT [NCIT:C84750] synonym: "hemolysis-elevated liver enzymes-low platelets syndrome" EXACT [Orphanet:244242] synonym: "hypertension, pregnancy-induced" RELATED [OMIM:189800] synonym: "PEE1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:189800] synonym: "PREECLAMPSIA/eclampsia 1" RELATED [MONDO:Lexical, OMIM:189800] synonym: "PREG1" RELATED [OMIM:189800] synonym: "syndrome of haemolysis, elevated liver enzymes and low platelet" EXACT [] synonym: "toxaemia of pregnancy" RELATED OMO:0003005 [] synonym: "toxemia of pregnancy" RELATED [OMIM:189800] xref: DOID:13133 {source="MONDO:equivalentTo", source="EFO:0007297"} xref: MedDRA:10049058 {source="Orphanet:244242", source="Orphanet:244242/e"} xref: MESH:D017359 {source="Orphanet:244242", source="MONDO:equivalentTo", source="Orphanet:244242/e", source="DOID:13133", source="EFO:0007297"} xref: MeSH:D017359 xref: MONDO:0008585 xref: NCIT:C84750 {source="MONDO:equivalentTo", source="DOID:13133"} xref: Orphanet:244242 {source="MONDO:equivalentTo"} xref: UMLS:C0162739 {source="Orphanet:244242", source="MONDO:equivalentTo", source="Orphanet:244242/e", source="DOID:13133", source="OMIM:189800", source="NCIT:C84750"} is_a: MONDO:0001641 {source="DOID:13133"} ! severe pre-eclampsia is_a: MONDO:0002254 {source="NCIT:C84750"} ! syndromic disease property_value: closeMatch http://identifiers.org/meddra/10049058 property_value: exactMatch DOID:13133 property_value: exactMatch http://identifiers.org/mesh/D017359 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162739 property_value: exactMatch NCIT:C84750 property_value: exactMatch Orphanet:244242 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8528/hellp-syndrome xsd:anyURI {source="GARD:0008528"} [Term] id: EFO:0007298 name: hemopericardium def: "A pericardial effusion that results from blood in the pericardial sac." [] def: "An accumulation of blood within the pericardial sac." [NCIT:P378] synonym: "Haemopericardium" EXACT [] synonym: "haemopericardium" EXACT [DOID:11482] synonym: "hemopericardium" EXACT [] {comment="preferred label from MONDO"} synonym: "hemopericardium" EXACT [MONDO:ambiguous] synonym: "hemopericardium (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Pericardial Effusion" EXACT [] xref: DOID:11482 {source="MONDO:equivalentTo", source="EFO:0007298"} xref: HP:0011851 {source="MONDO:otherHierarchy"} xref: ICD9:423.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11482"} xref: MedDRA:10019517 xref: MeSH:D010490 xref: MONDO:0005783 xref: SCTID:23412002 {source="MONDO:equivalentTo", source="DOID:11482"} xref: UMLS:C0019064 {source="MONDO:equivalentTo", source="DOID:11482"} is_a: MONDO:0001370 {source="DOID:11482"} ! pericardial effusion property_value: exactMatch DOID:11482 property_value: exactMatch http://identifiers.org/snomedct/23412002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019064 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000589 "hemopericardium (disease)" xsd:string [Term] id: EFO:0007299 name: hemorrhagic fever with renal syndrome def: "A viral infectious disease that is a hemorrhagic fever, located_in kidney, has_material_basis_in Hantaan virus, has_material_basis_in Dobrava-Belgrade virus, has_material_basis_in Seoul virus, or has_material_basis_in Puumala virus, which are carried and transmitted_by rodents. The infection has_symptom headache, has_symptom fever, has_symptom muscle pains, has_symptom facial flush, has_symptom petechiae, has_symptom hemorrhagic features, has_symptom proteinuria, and has_symptom renal failure." [] synonym: "Hemorrhagic Fever with Renal Syndrome" EXACT [] synonym: "Hemorrhagic fever, Russian" EXACT [] synonym: "Hemorrhagic nephrosonephritis" EXACT [] synonym: "HFRS" EXACT [] synonym: "Puumala virus nephropathy (disorder)" EXACT [] xref: DOID:11266 xref: MedDRA:10075020 xref: MeSH:D006480 is_a: EFO:0003086 ! kidney disease is_a: MONDO:0018087 ! viral hemorrhagic fever property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007300 name: Henipavirus infectious disease def: "A Paramyxoviridae infectious disease that results_in infection in domestic animals and humans, has_material_basis_in Henipavirus, which is transmitted_by direct contact with the urine, feces, and nasal secretions of an infected animal." [] def: "Infections with viruses of the genus henipavirus, family paramyxoviridae." [MESH:D045464] synonym: "Henipavirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Henipavirus disease or disorder" EXACT [] synonym: "Henipavirus Infections" EXACT [] synonym: "Henipavirus infectious disease" EXACT [] synonym: "henipavirus infectious disease" EXACT [] {comment="preferred label from MONDO"} xref: DOID:4393 xref: MESH:D045464 {source="MONDO:equivalentTo", source="EFO:0007300"} xref: MeSH:D045464 xref: MONDO:0005785 is_a: EFO:0007419 ! Paramyxoviridae infectious disease property_value: exactMatch http://identifiers.org/mesh/D045464 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007301 name: Hepadnaviridae infectious disease def: "A dsDNA-RT virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepadnaviridae viruses." [] def: "Virus diseases caused by the hepadnaviridae." [MESH:D018347] synonym: "Hepadnaviridae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Hepadnaviridae disease or disorder" EXACT [] synonym: "Hepadnaviridae Infections" EXACT [] synonym: "Hepadnaviridae infectious disease" EXACT [] {comment="preferred label from MONDO"} xref: DOID:5497 xref: MESH:D018347 {source="EFO:0007301", source="MONDO:equivalentTo"} xref: MeSH:D018347 xref: MONDO:0005786 xref: UMLS:C0206746 {source="MONDO:equivalentTo"} is_a: MONDO:0100329 ! primary viral infectious disease property_value: exactMatch http://identifiers.org/mesh/D018347 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206746 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007302 name: hepatic tuberculosis def: "A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice." [] def: "Infection of the liver with species of mycobacterium, most often mycobacterium tuberculosis. It is characterized by localized small tuberculous miliary lesions or tumor-like mass (tuberculoma), and abnormalities in liver function tests." [MESH:D014386] synonym: "hepatic tuberculosis" EXACT [] {comment="preferred label from MONDO"} synonym: "tuberculosis of liver" EXACT [DOID:407] synonym: "Tuberculosis of liver (disorder)" EXACT [] synonym: "Tuberculosis, Hepatic" EXACT [] xref: DOID:407 {source="EFO:0007302", source="MONDO:equivalentTo"} xref: ICD9:017.90 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D014386 {source="EFO:0007302", source="MONDO:equivalentTo", source="DOID:407"} xref: MeSH:D014386 xref: MONDO:0005787 xref: SCTID:186273003 {source="MONDO:equivalentTo", source="DOID:407"} xref: UMLS:C0041313 {source="MONDO:equivalentTo", source="DOID:407"} is_a: EFO:0001421 ! liver disease is_a: EFO:0007280 {source="DOID:407", source="EFO:0007302"} ! gastrointestinal tuberculosis is_a: EFO:0009903 ! inflammatory disease is_a: EFO:1000917 ! endocrine tuberculosis is_a: MONDO:0000369 ! abdominal tuberculosis property_value: exactMatch DOID:407 property_value: exactMatch http://identifiers.org/mesh/D014386 property_value: exactMatch http://identifiers.org/snomedct/186273003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041313 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007303 name: hepatitis E virus infection def: "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis E virus, which is transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom dark urine, has_symptom joint pain, and has_symptom jaundice." [] def: "Acute inflammation of the liver in humans; caused by hepatitis E virus, a non-enveloped single-stranded rna virus. Similar to hepatitis A, its incubation period is 15-60 days and is enterically transmitted, usually by fecal-oral transmission." [MESH:D016751] subset: gard_rare {source="GARD:0009541"} synonym: "hepatitis E" EXACT [] synonym: "Hepatitis E virus caused hepatitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Hepatitis E virus hepatitis" EXACT [] synonym: "hepatitis E virus infection" EXACT [] {comment="preferred label from MONDO"} synonym: "hepatitis type E" EXACT [DOID:4411, EFO:0007303, MONDORULE:1] xref: DOID:4411 {source="EFO:0007303", source="MONDO:equivalentTo"} xref: MESH:D016751 {source="DOID:4411", source="EFO:0007303", source="MONDO:equivalentTo"} xref: MeSH:D016751 xref: MONDO:0005788 xref: SCTID:7111000119109 {source="DOID:4411", source="MONDO:equivalentTo"} xref: UMLS:C0085293 {source="DOID:4411", source="MONDO:equivalentTo"} is_a: EFO:0004196 {source="EFO:0007303", source="MESH:D016751", source="MONDO:Redundant"} ! viral human hepatitis infection property_value: exactMatch DOID:4411 property_value: exactMatch http://identifiers.org/mesh/D016751 property_value: exactMatch http://identifiers.org/snomedct/7111000119109 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085293 property_value: excluded_subClassOf MONDO:0005093 {source="DOID:4411", source="MONDO:Redundant"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9541/hepatitis-e xsd:anyURI {source="GARD:0009541"} [Term] id: EFO:0007304 name: hepatitis D virus infection def: "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis delta virus, which is an incomplete virus that requires the helper function of Hepatitis B virus to replicate and only occurs among people who are infected with the Hepatitis B virus. The infection has_symptom fatigue, has_symptom lethargy, has_symptom anorexia, has_symptom nausea, has_symptom jaundice, has_symptom clay-colored stools, has_symptom dark urine, has_symptom changes in personality, has_symptom disturbances in sleep, has_symptom confusion, has_symptom abnormal behavior, has_symptom somnolence, and has_symptom coma." [] def: "Inflammation of the liver in humans caused by hepatitis delta virus, a defective RNA virus that can only infect hepatitis B patients. For its viral coating, hepatitis delta virus requires the hepatitis B surface antigens produced by these patients. Hepatitis D can occur either concomitantly with (coinfection) or subsequent to (superinfection) hepatitis B infection. Similar to hepatitis B, it is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact." [MESH:D003699] subset: ordo_disease {source="Orphanet:402823"} synonym: "delta hepatitis" EXACT [DOID:2047] synonym: "HDV" EXACT ABBREVIATION [Orphanet:402823] synonym: "hepatitis D" EXACT [] synonym: "Hepatitis D virus" EXACT [Orphanet:402823] synonym: "hepatitis D virus infection" EXACT [] {comment="preferred label from MONDO"} synonym: "hepatitis delta" EXACT [MONDO:0018441] synonym: "Hepatitis delta virus caused hepatitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Hepatitis delta virus hepatitis" EXACT [] synonym: "hepatitis type D" EXACT [DOID:2047, EFO:0007304, MONDORULE:1] xref: DOID:2047 {source="EFO:0007304", source="MONDO:equivalentTo"} xref: ICD9:070.52 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D003699 {source="EFO:0007304", source="DOID:2047", source="MONDO:equivalentTo"} xref: MeSH:D003699 xref: MONDO:0005789 xref: Orphanet:402823 {source="MONDO:equivalentTo"} xref: SCTID:707341005 {source="DOID:2047", source="MONDO:equivalentTo"} is_a: EFO:0004196 ! viral human hepatitis infection is_a: MONDO:0021674 ! post-viral disorder relationship: disease_arises_from_feature EFO:0004197 ! hepatitis B virus infection relationship: has_characteristic MONDO:0021136 {source="MONDO:0015576", source="MONDO:0018928"} ! rare property_value: exactMatch DOID:2047 property_value: exactMatch http://identifiers.org/mesh/D003699 property_value: exactMatch http://identifiers.org/snomedct/707341005 property_value: exactMatch Orphanet:402823 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007305 name: hepatitis A virus infection def: "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice." [] def: "Acute inflammation of the liver caused by the hepatitis A virus. It is highly contagious and usually contracted through close contact with an infected individual or their feces, contaminated food or water." [NCIT:P378] synonym: "Hepatitis A" EXACT [NCIT:C3096] synonym: "Hepatitis A infection" EXACT [NCIT:C3096] synonym: "hepatitis A virus infection" EXACT [] {comment="preferred label from MONDO"} synonym: "hepatitis type A" EXACT [DOID:12549, EFO:0007305, MONDORULE:1] synonym: "viral hepatitis A" RELATED [DOID:12549] synonym: "viral hepatitis, type A" EXACT [DOID:12549] synonym: "Viral hepatitis, type A (disorder)" EXACT [] xref: DOID:12549 {source="EFO:0007305", source="MONDO:equivalentTo"} xref: ICD10:B15 xref: MESH:D006506 {source="DOID:12549", source="EFO:0007305", source="MONDO:equivalentTo"} xref: MeSH:D006506 xref: MONDO:0005790 xref: NCIT:C3096 {source="DOID:12549", source="MONDO:equivalentTo"} xref: SCTID:40468003 {source="DOID:12549", source="MONDO:equivalentTo"} xref: UMLS:C0019159 {source="NCIT:C3096", source="DOID:12549", source="MONDO:equivalentTo"} is_a: EFO:0004196 {source="EFO:0007305", source="MESH:D006506", source="MONDO:Redundant", source="NCIT:C3096"} ! viral human hepatitis infection property_value: exactMatch DOID:12549 property_value: exactMatch http://identifiers.org/mesh/D006506 property_value: exactMatch http://identifiers.org/snomedct/40468003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019159 property_value: exactMatch NCIT:C3096 property_value: excluded_subClassOf MONDO:0005093 {source="DOID:12549", source="MONDO:Redundant"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007306 name: herpangina def: "A viral infectious disease that results in infection located in mouth, has material basis in Human coxsackievirus A16, has material basis in Human enterovirus 71, has material basis in group B coxsackievirus, or has material basis in echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars." [DOID:10883, http://emedicine.medscape.com/article/218502-overview, http://en.wikipedia.org/wiki/Herpangina, http://www.nlm.nih.gov/medlineplus/ency/article/000969.htm] def: "A viral infectious disease that results_in infection located_in mouth, has_material_basis_in Human coxsackievirus A16, has_material_basis_in Human enterovirus 71, has_material_basis_in group B coxsackievirus, or has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom sore throat, and has_symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars." [] synonym: "Herpangina" EXACT [] synonym: "herpangina" EXACT [] {comment="preferred label from MONDO"} synonym: "Vesicular pharyngitis" EXACT [] synonym: "vesicular pharyngitis" EXACT [DOID:10883] xref: DOID:10883 {source="EFO:0007306", source="MONDO:equivalentTo"} xref: ICD9:074.0 {source="DOID:10883"} xref: MedDRA:10019936 xref: MESH:D006557 {source="EFO:0007306", source="MONDO:equivalentTo", source="DOID:10883"} xref: MeSH:D006557 xref: MONDO:0005791 xref: SCTID:274102007 {source="MONDO:equivalentTo", source="DOID:10883"} xref: UMLS:C0019338 {source="MONDO:equivalentTo", source="DOID:10883"} is_a: EFO:0000763 {source="DOID:10883", source="EFO:0007306", source="MESH:D006557/inferred", source="MONDO:Redundant"} ! viral disease property_value: exactMatch DOID:10883 property_value: exactMatch http://identifiers.org/mesh/D006557 property_value: exactMatch http://identifiers.org/snomedct/274102007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019338 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007307 name: Herpes simplex virus gingivostomatitis def: "A Simplexvirus infectious disease that results_in inflammation located_in mucosa of mouth, has_material_basis_in Human herpesvirus 1, and has_symptom cold sores, has_symptom bad breath, and has_symptom fever." [] def: "Stomatitis caused by Herpesvirus hominis. It usually occurs as acute herpetic stomatitis (or gingivostomatitis), an oral manifestation of primary herpes simplex seen primarily in children and adolescents." [MESH:D013283] synonym: "Gingivostomatitides, herpetic" RELATED [MESH:D013283] synonym: "Gingivostomatitis, herpetic" RELATED [MESH:D013283] synonym: "herpes simplex virus gingivostomatitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Herpes simplex, oral" RELATED [MESH:D013283] synonym: "herpetic Gingivostomatitides" RELATED [MESH:D013283] synonym: "herpetic Gingivostomatitis" RELATED [MESH:D013283] synonym: "herpetic gingivostomatitis" EXACT [] synonym: "herpetic Stomatitides" RELATED [MESH:D013283] synonym: "herpetic stomatitis" RELATED [MESH:D013283] synonym: "oral Herpes simplex" RELATED [MESH:D013283] synonym: "primary herpetic gingivostomatitis" EXACT [] synonym: "simplex, oral Herpes" RELATED [MESH:D013283] synonym: "Simplexvirus caused stomatitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Simplexvirus stomatitis" EXACT [] synonym: "Stomatitides, herpetic" RELATED [MESH:D013283] synonym: "Stomatitis, Herpetic" EXACT [] xref: DOID:9059 xref: MESH:D013283 {source="MONDO:equivalentTo", source="EFO:0007307"} xref: MeSH:D013283 xref: MONDO:0005792 xref: SCTID:57920007 {source="MONDO:equivalentTo"} is_a: EFO:0009688 {source="MESH:D013283", source="MONDO:Redundant"} ! stomatitis is_a: EFO:1002022 {source="EFO:0007307", source="MESH:D013283", source="MONDO:Redundant"} ! Herpes simplex infection property_value: exactMatch http://identifiers.org/mesh/D013283 property_value: exactMatch http://identifiers.org/snomedct/57920007 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007308 name: Herpes simplex virus keratitis def: "A Simplexvirus infectious disease that results_in inflammation located_in cornea of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom photophobia, has_symptom blurred vision, has_symptom tearing, has_symptom pain, and has_symptom redness." [] def: "A superficial, epithelial Herpesvirus hominis infection of the cornea, characterized by the presence of small vesicles which may break down and coalesce to form dendritic ulcers (keratitis, dendritic). (Dictionary of Visual Science, 3d ed)" [MESH:D016849] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:137586"} synonym: "Dendritic Keratitis" EXACT [] synonym: "dendritic keratitis" EXACT [DOID:0080158] synonym: "herpes simplex disciform keratitis" EXACT [] synonym: "herpes simplex virus keratitis" EXACT [] {comment="preferred label from MONDO"} synonym: "herpetic keratitis" EXACT [Orphanet:137586] synonym: "HSV keratitis" EXACT [Orphanet:137586] synonym: "Keratitis, Dendritic" EXACT [] synonym: "Keratitis, Herpetic" EXACT [] synonym: "Keratitis, herpetic" EXACT [] synonym: "ocular herpes simplex" EXACT [] synonym: "Simplexvirus caused keratitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Simplexvirus keratitis" EXACT [] xref: DOID:0080158 {source="MONDO:equivalentTo"} xref: ICD10EXP:B00.5+ {source="Orphanet:137586", source="Orphanet:137586/e"} xref: ICD10EXP:H19.1* {source="Orphanet:137586", source="Orphanet:137586/e"} xref: MeSH:D016849 xref: MONDO:0015288 xref: NCIT:C34743 {source="MONDO:equivalentTo"} xref: Orphanet:137586 {source="MONDO:equivalentObsolete"} xref: SCTID:9389005 {source="MONDO:equivalentTo"} xref: UMLS:C0019357 {source="Orphanet:137586", source="MONDO:equivalentTo"} xref: UMLS:C0022570 {source="MONDO:equivalentTo"} is_a: EFO:1002022 ! Herpes simplex infection is_a: MONDO:0020950 ! viral eye infection is_a: MONDO:0023865 ! corneal infection property_value: exactMatch DOID:0080158 property_value: exactMatch http://identifiers.org/snomedct/9389005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019357 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022570 property_value: exactMatch NCIT:C34743 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007309 name: Herpesviridae infectious disease def: "A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Herpesviridae viruses." [] def: "Virus diseases caused by the herpesviridae." [MESH:D006566] synonym: "herpes infection" RELATED [] synonym: "Herpesviridae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Herpesviridae disease" EXACT [] synonym: "Herpesviridae disease or disorder" EXACT [] synonym: "Herpesviridae infection" RELATED [MESH:D006566] synonym: "Herpesviridae Infections" EXACT [] synonym: "Herpesviridae infections" EXACT [MONDO:0024460] synonym: "Herpesviridae infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Herpesvirus infection" RELATED [MESH:D006566] synonym: "herpesvirus infection" EXACT [] synonym: "Herpesvirus infection (disorder)" EXACT [] synonym: "Herpesvirus infections" RELATED [MESH:D006566] synonym: "infection, Herpesviridae" RELATED [MESH:D006566] synonym: "infection, Herpesvirus" RELATED [MESH:D006566] synonym: "infections, Herpesviridae" RELATED [MESH:D006566] synonym: "infections, Herpesvirus" RELATED [MESH:D006566] xref: DOID:2939 xref: MESH:D006566 {source="MONDO:equivalentTo", source="EFO:0007309"} xref: MeSH:D006566 xref: MONDO:0005794 xref: SCTID:23513009 {source="MONDO:equivalentTo"} is_a: MONDO:0100329 ! primary viral infectious disease property_value: exactMatch http://identifiers.org/mesh/D006566 property_value: exactMatch http://identifiers.org/snomedct/23513009 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007310 name: histoplasmosis def: "A disease caused by the fungus Histoplasma capsulatum. It primarily affects the lungs but can also occur as a disseminated disease that affects additional organs. The acute respiratory disease has symptoms similar to those of a cold or flu and it usually resolves without treatment in healthy individuals. The disseminated form is generally fatal if untreated." [NCIT:C77201] def: "A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum or has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains." [] subset: ordo_disease {source="Orphanet:390"} synonym: "darling disease" EXACT [Orphanet:390] synonym: "Histoplasma caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Histoplasma disease or disorder" EXACT [] synonym: "Histoplasma infectious disease" EXACT [] synonym: "Histoplasmosis" EXACT [] synonym: "histoplasmosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Reticuloendothelial hyperplasia" EXACT [] synonym: "reticuloendotheliosis" EXACT [] xref: DOID:1731 {source="MONDO:equivalentTo", source="EFO:0007310"} xref: ICD10:B39 xref: ICD10CM:B39 {source="DOID:1731", source="MONDO:equivalentTo"} xref: ICD9:115 {source="DOID:1731"} xref: ICD9:115.9 {source="DOID:1731"} xref: ICD9:115.90 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:115.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10020141 {source="Orphanet:390", source="Orphanet:390/e"} xref: MedDRA:10020151 xref: MedDRA:10020152 xref: MedDRA:10020153 xref: MedDRA:10021808 {source="Orphanet:390", source="Orphanet:390/e"} xref: MESH:C538362 {source="MONDO:relatedTo", source="DOID:1731"} xref: MESH:D006660 {source="DOID:1731", source="MONDO:equivalentTo", source="Orphanet:390", source="Orphanet:390/e", source="EFO:0007310"} xref: MeSH:D006660 xref: MONDO:0018312 xref: NCIT:C77201 {source="DOID:1731", source="MONDO:equivalentTo"} xref: Orphanet:390 {source="MONDO:equivalentTo"} xref: SCTID:12962009 {source="DOID:1731", source="MONDO:equivalentTo"} xref: UMLS:C0019655 {source="DOID:1731", source="MONDO:equivalentTo", source="Orphanet:390", source="NCIT:C77201", source="Orphanet:390/e"} xref: UMLS:C0035288 {source="MONDO:relatedTo", source="DOID:1731"} is_a: MONDO:0000308 {source="DOID:1731"} ! primary systemic mycosis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015578"} ! rare property_value: closeMatch http://identifiers.org/meddra/10020141 property_value: closeMatch http://identifiers.org/meddra/10021808 property_value: exactMatch DOID:1731 property_value: exactMatch http://identifiers.org/mesh/D006660 property_value: exactMatch http://identifiers.org/snomedct/12962009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019655 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B39 property_value: exactMatch NCIT:C77201 property_value: exactMatch Orphanet:390 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007311 name: HIV enteropathy def: "A Human immunodeficiency virus infectious disease that results_in infection characterized by chronic diarrhea lasting longer than 1 month, without an identified infectious cause after thorough evaluation, in an HIV-positive individual, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. It is observed that HIV-infected individuals have histologic abnormalities of the gastrointestinal mucosa, malabsorption, and lymphocyte depletion causing diarrhea, increased gastrointestinal inflammation, increased intestinal permeability, and malabsorption of bile acid and vitamin B12." [] def: "A syndrome characterized by chronic, well-established diarrhea (greater than one month in duration) without an identified infectious cause after thorough evaluation, in an hiv-positive individual. It is thought to be due to direct or indirect effects of hiv on the enteric mucosa. hiv enteropathy is a diagnosis of exclusion and can be made only after other forms of diarrheal illness have been ruled out. (Harrison's Principles of Internal Medicine, 13th ed, pp1607-8; Haubrich et al., Bockus Gastroenterology, 5th ed, p1155)" [MESH:D019053] synonym: "HIV Enteropathy" EXACT [] synonym: "HIV enteropathy" EXACT [] {comment="preferred label from MONDO"} xref: DOID:13251 xref: MedDRA:10069691 xref: MESH:D019053 {source="MONDO:equivalentTo", source="EFO:0007311"} xref: MeSH:D019053 xref: MONDO:0005796 xref: UMLS:C0282616 {source="MONDO:equivalentTo"} is_a: EFO:0009528 ! AIDS-related disease intersection_of: EFO:0009528 ! AIDS-related disease intersection_of: disease_has_feature EFO:0009431 ! intestinal disease relationship: disease_has_feature EFO:0009431 ! intestinal disease property_value: exactMatch http://identifiers.org/mesh/D019053 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0282616 property_value: excluded_subClassOf MONDO:0005020 {source="MESH:D019053"} property_value: excluded_subClassOf MONDO:0005109 {source="EFO:0007311", source="MESH:D019053"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007312 name: HIV wasting syndrome def: "An acquired immunodeficiency syndrome that results_in involuntary loss of more than 10% of body weight, plus more than 30 days of either diarrhea, or weakness and fever, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2." [] def: "Involuntary weight loss of greater than 10 percent associated with intermittent or constant fever and chronic diarrhea or fatigue for more than 30 days in the absence of a defined cause other than hiv infection. A constant feature is major muscle wasting with scattered myofiber degeneration. A variety of etiologies, which vary among patients, contributes to this syndrome. (From Harrison's Principles of Internal Medicine, 13th ed, p1611)." [MESH:D019247] synonym: "HIV Wasting Syndrome" EXACT [] synonym: "HIV wasting syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Human immunodeficiency virus infection wasting syndrome" EXACT [] xref: DOID:1313 xref: MedDRA:10050309 xref: MESH:D019247 {source="EFO:0007312", source="MONDO:equivalentTo"} xref: MeSH:D019247 xref: MONDO:0005797 xref: Orphanet:90081 {source="MONDO:equivalentTo"} xref: UMLS:C0343755 {source="MONDO:equivalentTo"} is_a: EFO:0000764 {source="EFO:0007312", source="MESH:D019247"} ! HIV infection is_a: EFO:0009528 ! AIDS-related disease property_value: exactMatch http://identifiers.org/mesh/D019247 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343755 property_value: exactMatch Orphanet:90081 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007313 name: HIV-associated nephropathy def: "A renal infectious disease and is_a Human immunodeficiency virus infectious disease that results_in infection located_in kidney, has_material_basis_in has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom nephrotic-range proteinuria (>3.5 g/d), has_symptom azotemia, has_symptom hypoalbuminemia, and has_symptom hyperlipidemia." [] def: "Renal disease in human immunodeficiency virus (HIV)-infected patients. It is characterized by nephrotic syndrome, azotemia, normal to large kidneys on ultrasound images, and focal segmental glomerulosclerosis on renal biopsy findings." [NCIT:C26918] synonym: "AIDS nephropathy" EXACT [] synonym: "AIDS-Associated Nephropathy" EXACT [] synonym: "AIDS-associated nephropathy" EXACT [NCIT:C26918] synonym: "AIDS-Related nephropathy" EXACT [] synonym: "AIDS-related nephropathy" EXACT [NCIT:C26918] synonym: "HIV nephropathy" EXACT [NCIT:C26918] synonym: "HIV-associated nephropathy" EXACT [] {comment="preferred label from MONDO"} synonym: "HIVAN" EXACT ABBREVIATION [NCIT:C26918] xref: DOID:1311 xref: MESH:D016263 {source="EFO:0007313", source="MONDO:equivalentTo"} xref: MeSH:D016263 xref: MONDO:0005798 xref: NCIT:C26918 {source="MONDO:equivalentTo"} xref: UMLS:C0078911 {source="NCIT:C26918", source="MONDO:equivalentTo"} is_a: EFO:0009528 ! AIDS-related disease is_a: MONDO:0005363 {source="NCIT:C26918"} ! inherited focal segmental glomerulosclerosis intersection_of: EFO:0009528 ! AIDS-related disease intersection_of: disease_has_feature EFO:0003086 ! kidney disease relationship: disease_has_feature EFO:0003086 ! kidney disease property_value: exactMatch http://identifiers.org/mesh/D016263 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0078911 property_value: exactMatch NCIT:C26918 property_value: excluded_subClassOf MONDO:0005108 {source="EFO:0007313", source="MESH:D016263/inferred", source="MONDO:Redundant"} property_value: excluded_subClassOf MONDO:0005109 {source="MESH:D016263"} property_value: excluded_subClassOf MONDO:0005240 {source="MESH:D016263", source="MONDO:Redundant"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007314 name: hookworm infectious disease def: "A Strongylida infectious disease that involves infection of the small intestine of mammals, cats and dogs by the parasitic nematodes of genus Ancylostoma, Necator and Uncinaria." [] def: "Infection of humans or animals with hookworms other than those caused by the genus Ancylostoma or Necator, for which the specific terms ancylostomiasis and necatoriasis are available." [MESH:D006725] comment: Editor note: TODO synonym: "ancylostomiasis and necatoriasis" EXACT [] synonym: "Bunostomiases" RELATED [MESH:D006725] synonym: "Bunostomiasis" RELATED [MESH:D006725] synonym: "hookworm infection" RELATED [MESH:D006725] synonym: "Hookworm Infections" EXACT [] synonym: "hookworm infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "infection, hookworm" RELATED [MESH:D006725] synonym: "infections, hookworm" RELATED [MESH:D006725] xref: DOID:2791 xref: ICD10:B76 xref: MedDRA:10020376 xref: MeSH:D006725 xref: MONDO:0005799 is_a: EFO:0005741 {source="EFO:0007314"} ! infectious disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007315 name: hordeolum def: "An acute, localized swelling of the eyelid that may be external or internal and usually is a pyogenic (typically staphylococcal) infection or abscess." [https://www.merckmanuals.com/professional/eye-disorders/eyelid-and-lacrimal-disorders/chalazion-and-hordeolum-stye] def: "Hordeolum is a sequelae of infectious and parasitic disease consisting of an infection of the sebaceous glands at the base of the eyelashes. Styes are generally caused by a Staphylococcus aureus bacterial infection." [] synonym: "blepharitis of eyelid gland" EXACT [MONDO:design_pattern] synonym: "Boil of eyelid" EXACT [] synonym: "boil of eyelid" EXACT [DOID:9909] synonym: "eyelid gland blepharitis" EXACT [MONDO:patterns/location] synonym: "Furuncle of eyelid" EXACT [] synonym: "furuncle of eyelid" EXACT [DOID:9909] synonym: "Hordeolum" EXACT [] synonym: "hordeolum" EXACT [] {comment="preferred label from MONDO"} synonym: "Stye" EXACT [DOID:9909, NCIT:C118722] xref: DOID:9909 {source="EFO:0007315", source="MONDO:equivalentTo"} xref: ICD10:H00 xref: MedDRA:10020377 xref: MESH:D006726 {source="EFO:0007315", source="MONDO:equivalentTo", source="DOID:9909"} xref: MeSH:D006726 xref: MONDO:0005800 xref: NCIT:C118722 {source="MONDO:equivalentTo", source="DOID:9909"} xref: SCTID:397513003 {source="MONDO:equivalentTo", source="DOID:9909"} xref: UMLS:C0019917 {source="MONDO:equivalentTo", source="NCIT:C118722", source="DOID:9909"} is_a: EFO:0005681 ! Staphylococcus aureus infection is_a: EFO:0009536 ! blepharitis is_a: MONDO:0024295 ! skin disease caused by bacterial infection is_a: MONDO:0043885 ! eye infectious disorder relationship: disease_has_feature EFO:0009536 ! blepharitis property_value: exactMatch DOID:9909 property_value: exactMatch http://identifiers.org/mesh/D006726 property_value: exactMatch http://identifiers.org/snomedct/397513003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019917 property_value: exactMatch NCIT:C118722 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007316 name: Human T-lymphotropic virus 1 infectious disease def: "A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has material basis in Human T-lymphotropic virus 1, which is transmitted by sexual contact, transmitted by contaminated needles used by intravenous-drug users, and transmitted by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder." [EFO:0007316] def: "A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder." [] subset: gard_rare synonym: "HTLV-1" RELATED [GARD:0009645] synonym: "HTLV-1 infectious disease" EXACT [] synonym: "HTLV-I Infections" EXACT [] synonym: "HTLV-I infectious disease" EXACT [] synonym: "Human T lymphotropic virus type 1" RELATED [GARD:0009645] synonym: "Human T-lymphotropic virus 1 caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Human T-lymphotropic virus 1 disease or disorder" EXACT [] synonym: "Human T-lymphotropic virus 1 infectious disease" EXACT [] synonym: "human T-lymphotropic virus 1 infectious disease" EXACT [] {comment="preferred label from MONDO"} xref: DOID:323 xref: MESH:D015490 {source="EFO:0007316", source="MONDO:equivalentTo"} xref: MeSH:D015490 xref: MONDO:0005801 xref: UMLS:C0020097 {source="MONDO:equivalentTo"} is_a: EFO:0000763 {source="EFO:0007316", source="MESH:D015490/inferred", source="MONDO:Redundant"} ! viral disease property_value: exactMatch http://identifiers.org/mesh/D015490 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020097 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007317 name: hymenolepiasis def: "A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness." [] def: "A parasitic infection caused by tapeworms. Most infected individuals do not have symptoms. When symptoms appear, they include diarrhea, abdominal pain, restlessness, and irritability." [NCIT:C84768] subset: gard_rare {source="GARD:0002787"} subset: ordo_disease {source="Orphanet:401"} synonym: "dwarf tapeworm infection" EXACT [DOID:10074] synonym: "Hymenolepiasis" EXACT [] synonym: "hymenolepiasis" EXACT [] {comment="preferred label from MONDO"} synonym: "hymenolepiasis" EXACT [NCIT:C84768] synonym: "Hymenolepis infectious disease" EXACT [DOID:10074] synonym: "Hymenolepsis infection" RELATED [GARD:0002787] xref: DOID:10074 {source="EFO:0007317", source="MONDO:equivalentTo"} xref: ICD10CM:B71.0 {source="Orphanet:401", source="MONDO:equivalentTo", source="Orphanet:401/e", source="DOID:10074"} xref: ICD9:123.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10074"} xref: MedDRA:10020546 {source="Orphanet:401", source="Orphanet:401/e"} xref: MESH:D006925 {source="Orphanet:401", source="EFO:0007317", source="MONDO:equivalentTo", source="Orphanet:401/e", source="DOID:10074"} xref: MeSH:D006925 xref: MONDO:0005802 xref: NCIT:C84768 {source="MONDO:equivalentTo", source="DOID:10074"} xref: Orphanet:401 {source="MONDO:equivalentTo"} xref: SCTID:44917000 {source="MONDO:equivalentTo", source="DOID:10074"} xref: UMLS:C0020413 {source="Orphanet:401", source="NCIT:C84768", source="MONDO:equivalentTo", source="Orphanet:401/e", source="DOID:10074"} xref: UMLS:C0277045 {source="MONDO:equivalentTo"} is_a: EFO:0000405 ! digestive system disease is_a: EFO:1001342 {source="DOID:10074", source="ICD10CM:B71.0/inferred", source="MESH:D006925/inferred"} ! Helminthiasis relationship: disease_has_feature MONDO:0002280 {source="MONDO:Wikidata"} ! anemia relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare property_value: closeMatch http://identifiers.org/meddra/10020546 property_value: exactMatch DOID:10074 property_value: exactMatch http://identifiers.org/mesh/D006925 property_value: exactMatch http://identifiers.org/snomedct/44917000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020413 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0277045 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B71.0 property_value: exactMatch NCIT:C84768 property_value: exactMatch Orphanet:401 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2787/hymenolepiasis xsd:anyURI {source="GARD:0002787"} [Term] id: EFO:0007318 name: hyperinsulinemic hypoglycemia def: "A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin." [] def: "An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene kcnj11 or the atp-binding cassette transporter gene abcc8, both on chromosome 11." [MESH:D046768] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:443095"} synonym: "hyperinsulinemia hypoglycemia" EXACT [OMIMPS:256450] synonym: "hyperinsulinemic hypoglycemia" EXACT [] {comment="preferred label from MONDO"} synonym: "hyperinsulinemic hypoglycemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Islet cell hyperplasia" EXACT [] synonym: "islet cell hyperplasia" EXACT [DOID:13317] synonym: "Nesidioblastosis" EXACT [] synonym: "nesidioblastosis" EXACT [] synonym: "nesidioblastosis" RELATED [DOID:13317] synonym: "persistent hyperinsulinemia hypoglycemia of infancy" EXACT [DOID:13317] xref: DOID:13317 {source="MONDO:equivalentTo", source="EFO:0007318"} xref: HP:0000825 {source="MONDO:otherHierarchy"} xref: MedDRA:10077227 xref: MeSH:D046768 xref: MONDO:0005803 xref: NCIT:C4375 {source="DOID:13317", source="MONDO:relatedTo"} xref: OMIMPS:256450 {source="MONDO:equivalentTo"} xref: Orphanet:443095 {source="MONDO:equivalentTo"} xref: SCTID:42681006 {source="DOID:13317", source="MONDO:equivalentTo"} is_a: EFO:0001379 {source="Orphanet:443095"} ! endocrine system disease is_a: MONDO:0019214 {source="DOID:13317", source="EFO:0007318"} ! inborn carbohydrate metabolic disorder is_a: Orphanet:79161 ! Disorder of carbohydrate metabolism relationship: has_characteristic MONDO:0021136 {source="MONDO:0020005"} ! rare property_value: exactMatch DOID:13317 property_value: exactMatch http://identifiers.org/snomedct/42681006 property_value: exactMatch https://omim.org/phenotypicSeries/PS256450 property_value: exactMatch Orphanet:443095 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3649 xsd:anyURI property_value: IAO:0000589 "hyperinsulinemic hypoglycemia (disease)" xsd:string [Term] id: EFO:0007319 name: hyperprolactinemia def: "Abnormally high level of prolactin in the blood." [NCIT:P378] def: "An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood." [] synonym: "Chiari-Frommel Syndrome" EXACT [] synonym: "Chiari-Frommel syndrome" EXACT [] synonym: "hyperprolactinaemia" EXACT [MESH:D006966] synonym: "hyperprolactinemia" EXACT [] {comment="preferred label from MONDO"} synonym: "hyperprolactinemia" EXACT [MONDO:ambiguous] synonym: "hyperprolactinemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "hyperprolactinemias" RELATED [MESH:D006966] synonym: "hypersecretion syndrome, prolactin" RELATED [MESH:D006966] synonym: "inappropriate prolactin secretion" RELATED [MESH:D006966] synonym: "inappropriate prolactin secretion syndrome" RELATED [MESH:D006966] synonym: "inappropriate secretion prolactin" RELATED [MESH:D006966] synonym: "Pregnancy-related A-G syndrome (disorder)" EXACT [] synonym: "prolactin hypersecretion syndrome" RELATED [MESH:D006966] synonym: "prolactin secretion, inappropriate" RELATED [MESH:D006966] synonym: "prolactin, inappropriate secretion" RELATED [MESH:D006966] synonym: "secretion prolactin, inappropriate" RELATED [MESH:D006966] synonym: "secretion, inappropriate prolactin" RELATED [MESH:D006966] synonym: "syndrome, prolactin hypersecretion" RELATED [MESH:D006966] xref: DOID:12700 {source="MONDO:relatedTo", source="EFO:0007319"} xref: HP:0000870 {source="MONDO:otherHierarchy"} xref: ICD10CM:E22.1 {source="MONDO:equivalentTo"} xref: ICD9:253.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10020737 xref: MedDRA:10020739 xref: MedDRA:10063930 xref: MeSH:D002640 xref: MESH:D006966 {source="MONDO:equivalentTo"} xref: MONDO:0005804 xref: SCTID:237662005 {source="MONDO:equivalentTo"} xref: UMLS:C0020514 {source="MONDO:equivalentTo"} is_a: EFO:0000589 ! metabolic disease is_a: EFO:0010283 ! blood disease is_a: EFO:1000973 {source="MESH:D006966"} ! hyperpituitarism property_value: exactMatch http://identifiers.org/mesh/D006966 property_value: exactMatch http://identifiers.org/snomedct/237662005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020514 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E22.1 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000589 "hyperprolactinemia (disease)" xsd:string [Term] id: EFO:0007320 name: hypodermyiasis def: "A myiasis that involves parasitic infestation of warble flies of the genus Hypoderma, on cattle and deer and Dermatobia hominis on humans. The larvae of human botfly, Dermatobia hominis, feed in a subdermal cavity causing cutaneous swellings on the body or scalp that may produce discharges and be painful." [] def: "Infestation with larvae of the genus Hypoderma, the warble fly." [MESH:D007000] synonym: "Hypodermyiasis" EXACT [] synonym: "hypodermyiasis" EXACT [] {comment="preferred label from MONDO"} synonym: "Oestridae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Oestridae disease or disorder" EXACT [] synonym: "Oestridae infectious disease" EXACT [] xref: DOID:12926 {source="MONDO:equivalentTo", source="EFO:0007320"} xref: MESH:D007000 {source="DOID:12926", source="MONDO:equivalentTo", source="EFO:0007320"} xref: MeSH:D007000 xref: MONDO:0005805 xref: Orphanet:430 {source="MONDO:equivalentObsolete"} xref: UMLS:C0020607 {source="DOID:12926", source="MONDO:equivalentTo"} is_a: EFO:0007389 {source="DOID:12926", source="MESH:D007000"} ! myiasis property_value: exactMatch DOID:12926 property_value: exactMatch http://identifiers.org/mesh/D007000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020607 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007321 name: hypopharynx cancer def: "A primary or metastatic malignant neoplasm that affects the hypopharynx." [NCIT:P378] synonym: "hypopharyngeal cancer" EXACT [DOID:8533, MTH:NOCODE] synonym: "hypopharynx cancer" EXACT [] {comment="preferred label from MONDO"} synonym: "hypopharynx cancer" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "hypopharynx pharynx cancer" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "hypural pharynx cancer" EXACT [MONDO:patterns/location] synonym: "malignant hypopharyngeal neoplasm" EXACT [NCIT:C7190] synonym: "malignant hypopharyngeal tumor" EXACT [DOID:8533, NCIT:C7190] synonym: "malignant hypopharyngeal tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of hypopharynx" EXACT [DOID:8533, ICD9CM:148, NCIT:C7190] synonym: "malignant neoplasm of hypopharynx" EXACT [DOID:8533, ICD9CM_2006:148, NCIT:C7190] synonym: "malignant neoplasm of ill-defined sites within the lip and oral cavity" EXACT [DOID:8533] synonym: "malignant neoplasm of other specified hypopharyngeal site" EXACT [DOID:8533] synonym: "malignant neoplasm of other specified sites of hypopharynx" EXACT [DOID:8533] synonym: "malignant neoplasm of posterior hypopharyngeal wall" EXACT [DOID:8533] synonym: "malignant neoplasm of posterior wall of hypopharynx" EXACT [DOID:8533, MTH:U001377] synonym: "malignant neoplasm of the hypopharynx" EXACT [NCIT:C7190] synonym: "malignant tumor of hypopharynx" EXACT [DOID:8533, NCIT:C7190] synonym: "malignant tumor of hypopharynx" EXACT [NCIT:C7190] synonym: "malignant tumor of posterior wall of hypopharynx" EXACT [DOID:8533] synonym: "malignant tumor of the hypopharynx" EXACT [NCIT:C7190] synonym: "malignant tumour of hypopharynx" EXACT [DOID:8533] synonym: "malignant tumour of hypopharynx" EXACT OMO:0003005 [] synonym: "malignant tumour of posterior wall of hypopharynx" EXACT OMO:0003005 [] synonym: "malignant tumour of the hypopharynx" EXACT OMO:0003005 [] synonym: "pharynx cancer of hypopharynx" EXACT [MONDO:design_pattern] xref: DOID:8533 {source="MONDO:equivalentTo", source="EFO:0007321"} xref: EFO:0007321 {source="MONDO:equivalentTo"} xref: GARD:0009334 {source="MONDO:equivalentTo"} xref: ICD10:C13 {source="DOID:8533", source="MONDO:equivalentTo"} xref: ICD10:C13.2 {source="DOID:8533"} xref: ICD10:C13.9 {source="DOID:8533"} xref: ICD10CM:C13 {source="DOID:8533", source="MONDO:equivalentTo"} xref: ICD9:148 {source="DOID:8533"} xref: ICD9:148.3 {source="DOID:8533", source="MONDO:equivalentTo", source="i2s"} xref: ICD9:148.3 {source="DOID:8533", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:148.9 {source="DOID:8533"} xref: MedDRA:10021042 xref: MESH:D007012 {source="DOID:8533", source="MONDO:equivalentTo", source="EFO:0007321"} xref: MONDO:0005806 xref: NCIT:C7190 {source="DOID:8533", source="MONDO:equivalentTo"} xref: SCTID:303012000 {source="DOID:8533", source="MONDO:equivalentTo"} is_a: EFO:0005577 {source="DOID:8533", source="EFO:0007321", source="MESH:D007012", source="MONDO:Redundant", source="NCIT:C7190"} ! pharynx cancer is_a: MONDO:0021358 ! neoplasm of hypopharynx property_value: closeMatch http://identifiers.org/snomedct/187712005 property_value: closeMatch http://identifiers.org/snomedct/187717004 property_value: closeMatch http://identifiers.org/snomedct/363399006 property_value: closeMatch http://identifiers.org/snomedct/93831006 property_value: closeMatch http://identifiers.org/snomedct/93968005 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153398 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0496770 property_value: exactMatch DOID:8533 property_value: exactMatch DOID:8533 property_value: exactMatch http://identifiers.org/mesh/D007012 property_value: exactMatch http://identifiers.org/mesh/D007012 property_value: exactMatch http://identifiers.org/snomedct/303012000 property_value: exactMatch http://identifiers.org/snomedct/303012000 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/C13 property_value: exactMatch NCIT:C7190 property_value: exactMatch NCIT:C7190 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:0007322 name: idiopathic CD4-positive T-lymphocytopenia def: "A lymphopenia that is caused by a reduction of CD4+ T lymphocytes." [] def: "A rare immunodeficiency syndrome characterized by the decrease of the CD4-positive lymphocytes below 300 per cubic millimeter in the absence of identifiable immunodeficiency causes. Patients with this syndrome are at an increased risk of opportunistic infections." [NCIT:P378] synonym: "idiopathic CD4-positive T-lymphocytopenia" EXACT [] {comment="preferred label from MONDO"} synonym: "T-Lymphocytopenia, Idiopathic CD4-Positive" EXACT [] xref: DOID:3109 {source="MONDO:equivalentTo", source="EFO:0007322"} xref: MESH:D018344 {source="MONDO:equivalentTo", source="DOID:3109", source="EFO:0007322"} xref: MeSH:D018344 xref: MONDO:0005807 xref: NCIT:C84780 {source="MONDO:equivalentTo", source="DOID:3109"} xref: UMLS:C0206744 {source="MONDO:equivalentTo", source="NCIT:C84780", source="DOID:3109"} is_a: MONDO:0003780 {source="NCIT:C84780"} ! T-cell immunodeficiency is_a: MONDO:0003783 {source="DOID:3109", source="MESH:D018344"} ! lymphopenia is_a: MONDO:0700007 ! idiopathic disease property_value: exactMatch DOID:3109 property_value: exactMatch http://identifiers.org/mesh/D018344 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206744 property_value: exactMatch NCIT:C84780 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007323 name: inclusion body myositis def: "A myositis that is characterized by slowly progressive weakness and wasting of both distal and proximal muscles, most apparent in the muscles of the arms and legs that can occur in a sporadic or hereditary forms." [] def: "A slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features." [https://orcid.org/0000-0001-5208-3432, Orphanet:611] subset: ordo_disease {source="Orphanet:611"} synonym: "Distal Myopathy with Rimmed Vacuoles (DMRV)" EXACT [] synonym: "Distal myopathy, Nonaka type" EXACT [] synonym: "Hereditary Inclusion Body Myopathy" EXACT [] synonym: "HIBM" EXACT [] synonym: "IBM" EXACT ABBREVIATION [Orphanet:611] synonym: "Ibm" RELATED [OMIM:147421] synonym: "IBM-3" EXACT [] synonym: "IBM2" EXACT [] synonym: "inclusion body myopathy 2" EXACT [] synonym: "inclusion body myopathy 3" EXACT [] synonym: "inclusion body myositis" EXACT [] {comment="preferred label from MONDO"} synonym: "inclusion body myositis" EXACT [OMIM:147421] synonym: "inflammatory myopathy" RELATED [GARD:0003896] synonym: "Myositis, Inclusion Body" EXACT [] synonym: "Nonaka Myopathy" EXACT [] synonym: "Nonaka myopathy" EXACT [] synonym: "sIBM" EXACT [Orphanet:611] synonym: "sporadic inclusion body myositis" EXACT [Orphanet:611] xref: DOID:3429 {source="EFO:0007323", source="MONDO:equivalentTo"} xref: ICD9:359.71 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:3429"} xref: ICD9:729.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10066407 {source="Orphanet:611", source="Orphanet:611/e"} xref: MESH:D018979 {source="EFO:0007323", source="MONDO:equivalentTo", source="DOID:3429"} xref: MeSH:D018979 xref: MONDO:0007827 xref: NCIT:C84786 {source="MONDO:equivalentTo", source="DOID:3429"} xref: OMIM:147421 {source="Orphanet:611", source="MONDO:equivalentTo", source="Orphanet:611/e", source="DOID:3429"} xref: Orphanet:611 {source="MONDO:equivalentTo", source="OMIM:147421"} xref: SCTID:72315009 {source="MONDO:equivalentTo", source="DOID:3429"} xref: UMLS:C0238190 {source="Orphanet:611", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:147421", source="Orphanet:611/e", source="DOID:3429", source="NCIT:C84786"} is_a: EFO:0000783 {source="DOID:3429", source="EFO:0007323", source="MESH:D018979", source="NCIT:C84786"} ! myositis property_value: closeMatch http://identifiers.org/meddra/10066407 property_value: exactMatch DOID:3429 property_value: exactMatch http://identifiers.org/mesh/D018979 property_value: exactMatch http://identifiers.org/snomedct/72315009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238190 property_value: exactMatch https://omim.org/entry/147421 property_value: exactMatch NCIT:C84786 property_value: exactMatch Orphanet:611 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007324 name: inclusion conjunctivitis def: "A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus." [] def: "Inflammation of the conjunctiva in a newborn due to Chlamydia trachomatis which was acquired during labor and delivery." [NCIT:C116817] subset: gard_rare {source="GARD:0006777"} synonym: "adult inclusion conjunctivitis" EXACT [DOID:13800] synonym: "Chlamydial conjunctivitis" EXACT [DOID:13800] synonym: "Conjunctivitis, Inclusion" EXACT [] synonym: "Inclusion blennorrhoea" EXACT [] synonym: "inclusion blennorrhoea" EXACT [DOID:13800] synonym: "inclusion blenorrhea" EXACT [DOID:13800] synonym: "inclusion conjunctivitis" EXACT [] {comment="preferred label from MONDO"} synonym: "neonatal Chlamydia conjunctivitis" EXACT [NCIT:C116817] synonym: "Paratrachoma" RELATED [DOID:13800] synonym: "Trachoma" EXACT [NCIT:C116817] xref: DOID:13800 {source="EFO:0007324", source="MONDO:equivalentTo"} xref: ICD10CM:A74.0 {source="DOID:13800", source="MONDO:equivalentTo"} xref: ICD9:077.0 {source="DOID:13800"} xref: ICD9:077.98 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10021629 xref: MESH:D003235 {source="DOID:13800", source="EFO:0007324", source="MONDO:equivalentTo"} xref: MeSH:D003235 xref: MONDO:0005808 xref: NCIT:C116817 {source="MONDO:equivalentTo"} xref: SCTID:231861005 {source="DOID:13800", source="MONDO:equivalentTo"} xref: UMLS:C0009770 {source="DOID:13800", source="MONDO:equivalentTo"} is_a: EFO:0007205 ! Chlamydia trachomatis infectious disease is_a: EFO:1000829 {source="MESH:D003235", source="NCIT:C116817"} ! bacterial conjunctivitis property_value: exactMatch DOID:13800 property_value: exactMatch http://identifiers.org/mesh/D003235 property_value: exactMatch http://identifiers.org/snomedct/231861005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009770 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A74.0 property_value: exactMatch NCIT:C116817 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6777/inclusion-conjunctivitis xsd:anyURI {source="GARD:0006777"} [Term] id: EFO:0007325 name: infectious ectromelia def: "A viral infection of mice, causing edema and necrosis followed by limb loss." [MESH:D004482] def: "A viral infectious disease that results_in infection located in skin of mice, has_material_basis_in Ectromelia virus. The infection has_symptom swelling of the feet, has_symptom gangrene, and has_symptom lesions on the skin." [] synonym: "Ectromelia, Infectious" EXACT [] synonym: "infectious ectromelia" EXACT [] {comment="preferred label from MONDO"} synonym: "Mousepox (disorder)" EXACT [] xref: DOID:3296 xref: MESH:D004482 {source="EFO:0007325", source="MONDO:equivalentTo"} xref: MeSH:D004482 xref: MONDO:0005809 xref: UMLS:C0013591 {source="MONDO:equivalentTo"} is_a: MONDO:0700053 {source="MESH:D004482"} ! viral infectious disease, non-human animal property_value: exactMatch http://identifiers.org/mesh/D004482 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013591 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007326 name: infectious mononucleosis def: "A condition characterized by an increase in mononuclear white blood cells and swollen lymph nodes, which is usually caused by infection with the Epstein-Barr virus." [NCIT:P378] def: "A viral infectious disease that results_in inflammation, located_in pharynx, has_material_basis_in Human herpesvirus 4 and has_symptom fever, has_symptom fatigue, has_symptom lymphadenopathy, and has_symptom splenomegaly." [] synonym: "Filatov's disease" EXACT [DOID:8568] synonym: "Gammaherpesviral mononucleosis" EXACT [DOID:8568] synonym: "Gammaherpesviral mononucleosis (disorder)" EXACT [] synonym: "glandular fever" EXACT [DOID:8568] synonym: "Infectious Mononucleosis" EXACT [] synonym: "infectious mononucleosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Mono" EXACT [NCIT:C34726] synonym: "Monocytic angina" EXACT [] synonym: "monocytic angina" EXACT [DOID:8568] synonym: "mononucleosis" EXACT [DOID:8568] synonym: "Pfeiffer's disease" EXACT [DOID:8568] synonym: "Pfeiffer's disease (disorder)" EXACT [] xref: DOID:8568 {source="EFO:0007326", source="MONDO:equivalentTo"} xref: ICD10:B27 xref: ICD9:075 {source="DOID:8568"} xref: MedDRA:10021914 xref: MESH:D007244 {source="EFO:0007326", source="DOID:8568", source="MONDO:equivalentTo"} xref: MeSH:D007244 xref: MONDO:0005810 xref: NCIT:C34726 {source="DOID:8568", source="MONDO:equivalentTo"} xref: SCTID:186668002 {source="DOID:8568", source="MONDO:equivalentTo"} xref: UMLS:C0021345 {source="NCIT:C34726", source="DOID:8568", source="MONDO:equivalentTo"} is_a: EFO:0000769 {source="MESH:D007244", source="MONDO:Redundant", source="NCIT:C34726"} ! Epstein-Barr virus infection property_value: exactMatch DOID:8568 property_value: exactMatch http://identifiers.org/mesh/D007244 property_value: exactMatch http://identifiers.org/snomedct/186668002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0021345 property_value: exactMatch NCIT:C34726 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007327 name: infectious myxomatosis def: "A viral infectious disease that results in infection located in eyes or located in upper respiratory tract of domestic rabbits, has material basis in Myxoma virus, which is transmitted by mosquitos, transmitted by biting flies or transmitted by direct contact. The infection has symptom conjunctivitis with a milky discharge from the inflamed eye and has symptom breathing difficulties." [EFO:0007327] def: "A viral infectious disease that results_in infection located_in eyes or located_in upper respiratory tract of domestic rabbits, has_material_basis_in Myxoma virus, which is transmitted_by mosquitos, transmitted_by biting flies or transmitted_by direct contact. The infection has_symptom conjunctivitis with a milky discharge from the inflamed eye and has_symptom breathing difficulties." [] synonym: "infectious myxomatosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Myxomatosis, Infectious" EXACT [] xref: DOID:3297 xref: MESH:D009234 {source="EFO:0007327", source="MONDO:equivalentTo"} xref: MeSH:D009234 xref: MONDO:0005811 xref: UMLS:C0027152 {source="MONDO:equivalentTo"} is_a: MONDO:0700053 {source="EFO:0007327"} ! viral infectious disease, non-human animal property_value: exactMatch http://identifiers.org/mesh/D009234 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027152 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007328 name: influenza def: "A viral infectious disease that results_in infection, located_in respiratory tract, has_material_basis_in Influenzavirus A, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness." [] def: "An acute viral infection of the respiratory tract, occurring in isolated cases, in epidemics, or in pandemics; it is caused by serologically different strains of viruses (influenzaviruses) designated A, B, and C, has a 3-day incubation period, and usually lasts for 3 to 10 days. It is marked by inflammation of the nasal mucosa, pharynx, and conjunctiva; headache; myalgia; often fever, chills, and prostration; and occasionally involvement of the myocardium or central nervous system." [NCIT:P378] synonym: "flu" EXACT [DOID:8469] synonym: "influenza" EXACT [] {comment="preferred label from MONDO"} synonym: "influenza infection" EXACT [MONDO:0005162] synonym: "influenza virus infection" EXACT [] synonym: "influenza with non-respiratory manifestation" EXACT [DOID:8469] synonym: "Influenza with non-respiratory manifestation (disorder)" EXACT [] synonym: "Influenza with other manifestations" EXACT [DOID:8469, ICD9CM:487.8] synonym: "Influenza with other manifestations (disorder)" EXACT [] synonym: "Influenza with other manifestations NOS (disorder)" EXACT [] synonym: "Influenza, Human" EXACT [] synonym: "orthomyxoviridae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "orthomyxoviridae disease or disorder" EXACT [] synonym: "orthomyxoviridae infectious disease" EXACT [MONDO:0005889] xref: DOID:8469 {source="EFO:0007328", source="MONDO:equivalentTo", source="EFO:0001669"} xref: EFO:0007411 {source="MONDO:equivalentTo"} xref: ICD9:487 {source="DOID:8469", source="EFO:0001669"} xref: ICD9:487.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10022000 xref: MESH:D007251 {source="DOID:8469", source="EFO:0007328", source="MONDO:equivalentTo"} xref: MeSH:D007251 xref: MESH:D009976 {source="EFO:0007411", source="MONDO:equivalentTo"} xref: MONDO:0005812 xref: NCIT:C53482 {source="DOID:8469", source="MONDO:equivalentTo", source="EFO:0001669"} xref: NCIt:C53482 xref: SCTID:61700007 {source="MONDO:equivalentTo"} xref: SNOMEDCT:6142004 is_a: MONDO:0024352 ! viral respiratory tract infection is_a: MONDO:0100329 ! primary viral infectious disease relationship: EFO:0000784 UBERON:0001004 ! has_disease_location respiratory system property_value: exactMatch DOID:8469 property_value: exactMatch http://identifiers.org/mesh/D007251 property_value: exactMatch http://identifiers.org/mesh/D009976 property_value: exactMatch http://identifiers.org/snomedct/61700007 property_value: exactMatch NCIT:C53482 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007329 name: interdigitating dendritic cell sarcoma def: "A neoplastic proliferation of spindle to ovoid cells which show phenotypic features similar to those of interdigitating dendritic cells. The clinical course is generally aggressive. (WHO, 2008)" [NCIT:C9282] synonym: "interdigitating cell sarcoma" BROAD [DOID:7848, NCIT:C9282] synonym: "interdigitating cell sarcoma" EXACT [DOID:7848, NCIT:C9282] synonym: "interdigitating cell sarcoma/tumor" EXACT [NCIT:C9282] synonym: "interdigitating Dendritic cell sarcoma" EXACT [NCIT:C9282] synonym: "interdigitating dendritic cell sarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "interdigitating dendritic cell sarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "interdigitating Dendritic cell sarcoma/tumor" EXACT [NCIT:C9282] xref: DOID:7848 {source="MONDO:equivalentTo", source="EFO:0007329"} xref: EFO:0007329 {source="MONDO:equivalentTo"} xref: ICD10:C96.4 {source="DOID:7848"} xref: ICDO:9757/1 {source="NCIT:C9282"} xref: ICDO:9757/3 {source="NCIT:C9282"} xref: MESH:D054739 {source="MONDO:equivalentTo", source="EFO:0007329", source="DOID:7848"} xref: MONDO:0005813 xref: NCIT:C9282 {source="MONDO:equivalentTo", source="DOID:7848", source="MONDO:exact-label-match"} xref: NCIT:C9282 {source="MONDO:equivalentTo", source="DOID:7848", source="exact-label-match"} xref: ONCOTREE:IDCS {source="MONDO:equivalentTo"} xref: SCTID:715664005 {source="MONDO:equivalentTo"} is_a: MONDO:0004380 {source="https://orcid.org/0000-0001-5208-3432"} ! dendritic cell sarcoma relationship: EFO:0000784 CL:0000451 ! has_disease_location dendritic cell property_value: closeMatch http://identifiers.org/snomedct/128815007 property_value: exactMatch DOID:7848 property_value: exactMatch DOID:7848 property_value: exactMatch http://identifiers.org/mesh/D054739 property_value: exactMatch http://identifiers.org/mesh/D054739 property_value: exactMatch http://identifiers.org/snomedct/715664005 property_value: exactMatch http://identifiers.org/snomedct/715664005 property_value: exactMatch NCIT:C9282 property_value: exactMatch NCIT:C9282 [Term] id: EFO:0007330 name: intestinal cancer def: "A malignant neoplasm involving the intestine" [https://orcid.org/0000-0002-6601-2165] def: "A malignant neoplasm involving the intestine" [MONDO:DesignPattern] synonym: "bowel cancer" EXACT [NCIT:C4572] synonym: "cancer of intestine" EXACT [MONDO:patterns/cancer, NCIT:C4572] synonym: "cancer of the intestine" EXACT [NCIT:C4572] synonym: "intestinal cancer" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "intestinal cancer" EXACT [NCIT:C4572] synonym: "intestinal cancer" EXACT [] {comment="preferred label from MONDO"} synonym: "intestinal neoplasms, malignant" EXACT [NCIT:C4572] synonym: "intestinal tumors, malignant" EXACT [NCIT:C4572] synonym: "intestine cancer" EXACT [MONDO:patterns/location] synonym: "malignant intestinal neoplasm" EXACT [NCIT:C4572] synonym: "malignant intestinal neoplasms" EXACT [NCIT:C4572] synonym: "malignant intestinal tumor" EXACT [NCIT:C4572] synonym: "malignant intestinal tumors" EXACT [DOID:10155, NCIT:C4572] synonym: "malignant intestinal tumour" EXACT OMO:0003005 [] synonym: "malignant intestinal tumours" EXACT OMO:0003005 [] synonym: "malignant intestine neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4572] synonym: "malignant intestine tumor" EXACT [NCIT:C4572] synonym: "malignant intestine tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of intestine" EXACT [DOID:10155, MONDO:patterns/cancer, NCIT:C4572] synonym: "malignant neoplasm of the intestine" EXACT [NCIT:C4572] synonym: "malignant tumor of intestine" EXACT [NCIT:C4572] synonym: "malignant tumor of the intestine" EXACT [NCIT:C4572] synonym: "malignant tumour of intestine" EXACT OMO:0003005 [] synonym: "malignant tumour of the intestine" EXACT OMO:0003005 [] xref: DOID:10155 {source="MONDO:equivalentTo", source="EFO:0007330"} xref: EFO:0007330 {source="MONDO:equivalentTo"} xref: ICD10:C26.0 {source="DOID:10155"} xref: ICD9:159.0 {source="DOID:10155"} xref: MESH:D007414 {source="MONDO:equivalentTo", source="DOID:10155", source="EFO:0007330"} xref: MONDO:0005814 xref: NCIT:C4572 {source="MONDO:equivalentTo", source="DOID:10155"} xref: SCTID:363508008 {source="MONDO:equivalentTo", source="DOID:10155"} xref: UMLS:C0346627 {source="NCIT:C4572", source="MONDO:equivalentTo", source="DOID:10155"} is_a: MONDO:0002516 {source="DOID:10155", source="MONDO:Redundant", source="NCIT:C4572"} ! digestive system cancer is_a: MONDO:0021118 {source="MONDO:Redundant", source="NCIT:C4572"} ! intestinal neoplasm property_value: closeMatch http://identifiers.org/snomedct/187819006 property_value: closeMatch http://identifiers.org/snomedct/190089002 property_value: closeMatch http://identifiers.org/snomedct/93838000 property_value: exactMatch DOID:10155 property_value: exactMatch DOID:10155 property_value: exactMatch http://identifiers.org/mesh/D007414 property_value: exactMatch http://identifiers.org/mesh/D007414 property_value: exactMatch http://identifiers.org/snomedct/363508008 property_value: exactMatch http://identifiers.org/snomedct/363508008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346627 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346627 property_value: exactMatch NCIT:C4572 property_value: exactMatch NCIT:C4572 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/cancer.yaml [Term] id: EFO:0007331 name: islet cell tumor def: "A neoplasm with neuroendocrine differentiation that arises from the pancreas. It includes neuroendocrine tumors (low and intermediate grade) and neuroendocrine carcinomas (high grade)." [NCIT:C27031] def: "A pancreatic cancer that is located_in the pancreatic islet cells." [] comment: Editor note: classified as carcinoma in EFO subset: disease_grouping subset: ordo_group_of_disorders synonym: "Adenoma, Islet Cell" EXACT [] synonym: "endocrine pancreas cancer" EXACT [] synonym: "endocrine pancreas cancer" NARROW [DOID:1799] synonym: "endocrine pancreas neoplasm" EXACT [] synonym: "endocrine pancreas neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "endocrine pancreas tumor" EXACT [MONDO:patterns/neoplasm] synonym: "endocrine pancreas tumour" EXACT OMO:0003005 [] synonym: "Islet cell neoplasm" EXACT [] synonym: "islet cell neoplasm" NARROW [DOID:1799] synonym: "Islet cell tumor" EXACT [] synonym: "islet cell tumor" NARROW [DOID:1799] synonym: "Islet cell tumors" NARROW [GARD:0007311] synonym: "Islet cell tumour" EXACT [] synonym: "islet cell tumour" NARROW OMO:0003005 [] synonym: "Islet cell tumours" NARROW OMO:0003005 [] synonym: "Islet of Langerhans tumor" RELATED [GARD:0007311] synonym: "Islet of Langerhans tumour" RELATED OMO:0003005 [] synonym: "malignant pancreatic Endocrine tumor" EXACT [] synonym: "malignant pancreatic endocrine tumor" NARROW [DOID:1799, NCIT:C3770] synonym: "malignant pancreatic endocrine tumour" NARROW OMO:0003005 [] synonym: "malignant tumor of endocrine pancreas" EXACT [DOID:1799] synonym: "malignant tumor of endocrine pancreas (disorder)" EXACT [] synonym: "malignant tumour of endocrine pancreas" EXACT OMO:0003005 [] synonym: "neoplasm of endocrine pancreas" EXACT [MONDO:patterns/neoplasm] synonym: "neuroendocrine neoplasm of pancreas" RELATED [Orphanet:506052] synonym: "pancreatic Endocrine neoplasm" EXACT [] synonym: "pancreatic endocrine neoplasm" EXACT [DOID:1799, NCIT:C27031] synonym: "pancreatic NEN" EXACT [Orphanet:506052] synonym: "pancreatic neuroendocrine neoplasm" EXACT [NCIT:C27031, Orphanet:506052] synonym: "pancreatic neuroendocrine neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "PNEN" EXACT ABBREVIATION [Orphanet:506052] synonym: "tumor of endocrine pancreas" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of endocrine pancreas" EXACT OMO:0003005 [] xref: DOID:1799 {source="MONDO:equivalentTo", source="EFO:0007331"} xref: ICDO:8150/1 {source="NCIT:C27031"} xref: MeSH:D007516 xref: MONDO:0005815 xref: NCIT:C27031 {source="MONDO:equivalentTo", source="DOID:1799"} xref: Orphanet:506052 {source="MONDO:equivalentTo"} xref: SCTID:254611009 {source="MONDO:equivalentTo", source="DOID:1799"} is_a: EFO:0003860 {source="EFO:0007331", source="MONDO:0018520-obsoleted", source="MONDO:Entailed", source="NCIT:C27031"} ! pancreatic neoplasm is_a: MONDO:0001933 {source="DOID:1799", source="MONDO:Redundant", source="NCIT:C27031"} ! endocrine pancreas disorder is_a: MONDO:0024503 {source="Orphanet:506052"} ! digestive system neuroendocrine neoplasm property_value: exactMatch DOID:1799 property_value: exactMatch http://identifiers.org/snomedct/254611009 property_value: exactMatch NCIT:C27031 property_value: exactMatch Orphanet:506052 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007332 name: Japanese encephalitis def: "A disease due to a virus transmitted by an arthropod)." [Orphanet:79139] def: "A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis." [] subset: gard_rare {source="GARD:0006797"} subset: ordo_disease {source="Orphanet:79139"} synonym: "Encephalitis, Japanese" EXACT [] synonym: "Japanese B encephalitis" EXACT [DOID:10844] synonym: "Japanese encephalitis" EXACT [] {comment="preferred label from MONDO"} synonym: "JE" RELATED ABBREVIATION [GARD:0006797] xref: DOID:10844 {source="MONDO:equivalentTo", source="EFO:0007332"} xref: ICD9:062.0 {source="DOID:10844", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10014596 {source="Orphanet:79139", source="Orphanet:79139/e"} xref: MedDRA:10023123 xref: MESH:D004672 {source="Orphanet:79139", source="DOID:10844", source="MONDO:equivalentTo", source="Orphanet:79139/e", source="EFO:0007332"} xref: MeSH:D004672 xref: MONDO:0019209 xref: NCIT:C34577 {source="DOID:10844", source="MONDO:equivalentTo"} xref: Orphanet:79139 {source="MONDO:equivalentTo"} xref: SCTID:52947006 {source="DOID:10844", source="MONDO:equivalentTo"} xref: UMLS:C0014057 {source="Orphanet:79139", source="DOID:10844", source="MONDO:equivalentTo", source="Orphanet:79139/e"} is_a: MONDO:0020601 ! mosquito-borne viral encephalitis property_value: closeMatch http://identifiers.org/meddra/10014596 property_value: exactMatch DOID:10844 property_value: exactMatch http://identifiers.org/mesh/D004672 property_value: exactMatch http://identifiers.org/snomedct/52947006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014057 property_value: exactMatch NCIT:C34577 property_value: exactMatch Orphanet:79139 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6797/japanese-encephalitis xsd:anyURI {source="GARD:0006797"} [Term] id: EFO:0007333 name: jaw cancer def: "A bone cancer and jaw disease that is located_in the jaw and results_in a swollen jaw, results_in numbness or a tingling sensation in jaw, and results_in an abnormal growth of the jaw bone." [] def: "A malignant neoplasm involving the jaw skeleton" [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of jaw skeleton" EXACT [MONDO:patterns/cancer] synonym: "jaw cancer" EXACT [] {comment="preferred label from MONDO"} synonym: "jaw neoplasm" BROAD [DOID:1862] synonym: "Jaw Neoplasms" EXACT [] synonym: "jaw skeleton cancer" EXACT [MONDO:patterns/location] synonym: "malignant jaw skeleton neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of jaw skeleton" EXACT [MONDO:patterns/cancer] synonym: "neoplasm of jaw" BROAD [DOID:1862] synonym: "neoplasm of jaw (disorder)" EXACT [] xref: DOID:1862 {source="MONDO:equivalentTo"} xref: MESH:D007573 {source="MONDO:equivalentTo", source="DOID:1862"} xref: MeSH:D007573 xref: MONDO:0002131 xref: SCTID:126634001 {source="MONDO:relatedTo", source="DOID:1862"} is_a: EFO:0009468 ! jaw disease is_a: MONDO:0002132 ! skull cancer is_a: MONDO:0002516 ! digestive system cancer is_a: MONDO:0021580 ! neoplasm of jaw property_value: exactMatch DOID:1862 property_value: exactMatch http://identifiers.org/mesh/D007573 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007334 name: obsolete_Klippel-Trenaunay syndrome def: "A rare congenital syndrome characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues." [] synonym: "angioosteohypertrophy syndrome" EXACT [] synonym: "Haemangiectatic hypertrophy" EXACT [] synonym: "Klippel-Trenaunay-Weber Syndrome" EXACT [] synonym: "Klippel-Trenaunay-Weber syndrome" EXACT [] xref: DOID:2926 xref: MeSH:D007715 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.98" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication\nUse http://www.orpha.net/ORDO/Orphanet_90308\nLabel : Klippel-Trénaunay syndrome" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_90308 [Term] id: EFO:0007335 name: Kluver-Bucy syndrome alt_id: MONDO:0015527 def: "An impulse control disorder that involves abnormalities in memory, social and sexual functioning and idiosyncratic behaviors resulting from damage from trauma or infection to both temporal lobes causing individuals to put objects in their mouths and engage in inappropriate sexual behavior." [] def: "Kluver Bucy syndrome is a rare behavioral impairment characterized byinappropriate sexual behaviors and mouthing of objects. Other signs and symptoms, includea diminished ability to visually recognize objects,loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. It is associated with damage to the anterior temporal lobes of the brain. Cases have been reported in association with herpes encephalitis and head trauma. Treatment is symptomatic and may include the use of psychotropic medications." [https://rarediseases.info.nih.gov/diseases/6840/kluver-bucy-syndrome] subset: gard_rare {source="GARD:0006840"} subset: ordo_clinical_syndrome {source="Orphanet:157823"} synonym: "bilateral temporal lobe disorder" RELATED [GARD:0006840] synonym: "KLuever-Bucy syndrome" RELATED [] synonym: "Kluver Bucy syndrome" RELATED [GARD:0006840, MESH:D020232] synonym: "Kluver-Bucy Syndrome" EXACT [] synonym: "Kluver-Bucy syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Klver-Bucy syndrome" EXACT [DOID:2510] synonym: "KLüver-Bucy syndrome" EXACT [Orphanet:157823] synonym: "memory loss, extreme sexual behavior, placidity, and visual distractibility" RELATED [GARD:0006840] synonym: "post-encephalitic Kluver Bucy syndrome (type)" RELATED [GARD:0006840] synonym: "post-traumatic Kluver Bucy syndrome (type)" RELATED [GARD:0006840] synonym: "syndrome, Kluver-Bucy" RELATED [MESH:D020232] synonym: "temporal lobectomy behavior syndrome" RELATED [MESH:D020232] synonym: "temporal lobectomy behaviour syndrome" RELATED OMO:0003005 [] xref: DOID:2510 {source="EFO:0007335", source="MONDO:equivalentTo"} xref: MedDRA:10066431 {source="Orphanet:157823", source="Orphanet:157823/e"} xref: MESH:D020232 {source="EFO:0007335", source="DOID:2510", source="MONDO:equivalentTo", source="Orphanet:157823", source="Orphanet:157823/e"} xref: MeSH:D020232 xref: MONDO:0005817 xref: NCIT:C84802 {source="DOID:2510", source="MONDO:equivalentTo"} xref: Orphanet:157823 {source="MONDO:equivalentTo"} xref: SCTID:10651001 {source="DOID:2510", source="MONDO:equivalentTo"} is_a: EFO:0000677 ! mental or behavioural disorder is_a: MONDO:0001162 {source="DOID:2510"} ! impulse control disorder is_a: MONDO:0002254 {source="NCIT:C84802"} ! syndromic disease is_a: MONDO:0020067 {source="Orphanet:157823"} ! infectious encephalitis property_value: closeMatch http://identifiers.org/meddra/10066431 property_value: exactMatch DOID:2510 property_value: exactMatch http://identifiers.org/mesh/D020232 property_value: exactMatch http://identifiers.org/snomedct/10651001 property_value: exactMatch NCIT:C84802 property_value: exactMatch Orphanet:157823 property_value: excluded_subClassOf MONDO:0005084 {source="EFO:0007335"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6840/kluver-bucy-syndrome xsd:anyURI {source="GARD:0006840"} [Term] id: EFO:0007336 name: Langerhans cell sarcoma def: "A neoplastic proliferation of Langerhans cells with overtly malignant cytologic features. It can be considered a higher grade variant of Langerhans cell histiocytosis (LCH) and it can present de novo or progress from antecedent LCH. (WHO, 2001)" [NCIT:C6921] subset: gard_rare {source="GARD:0010491"} subset: ordo_disease {source="Orphanet:86897"} synonym: "Langerhans cell sarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "Langerhans cell sarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "Langerhans cell sarcoma" EXACT [MONDO:patterns/location, NCIT:C6921] synonym: "LCS" RELATED ABBREVIATION [ONCOTREE:LCS] synonym: "malignant Langerhans cell sarcoma" RELATED [GARD:0010491] synonym: "sarcoma of Langerhans cell" EXACT [MONDO:patterns/sarcoma] xref: DOID:7146 {source="EFO:0007336", source="MONDO:equivalentTo"} xref: EFO:0007336 {source="MONDO:equivalentTo"} xref: GARD:0010491 {source="MONDO:equivalentTo"} xref: ICD10:C96.4 {source="Orphanet:86897", source="ORDO:86897/ntbt", source="DOID:7146"} xref: ICDO:9756/3 {source="NCIT:C6921"} xref: MESH:D054752 {source="EFO:0007336", source="Orphanet:86897", source="MONDO:equivalentTo", source="Orphanet:86897/e", source="DOID:7146"} xref: MESH:D054752 {source="ORDO:86897/e", source="EFO:0007336", source="Orphanet:86897", source="MONDO:equivalentTo", source="DOID:7146"} xref: MONDO:0019480 xref: NCIT:C6921 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:7146"} xref: NCIT:C6921 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7146"} xref: ONCOTREE:LCS {source="MONDO:equivalentTo"} xref: Orphanet:86897 {source="MONDO:equivalentTo"} xref: SCTID:724649000 {source="MONDO:equivalentTo"} xref: UMLS:C1260327 {source="ORDO:86897/e", source="Orphanet:86897", source="MONDO:equivalentTo", source="NCIT:C6921", source="DOID:7146"} xref: UMLS:C1260327 {source="Orphanet:86897", source="MONDO:equivalentTo", source="NCIT:C6921", source="Orphanet:86897/e", source="DOID:7146"} is_a: MONDO:0004380 {source="DOID:7146", source="MONDO:Entailed", source="MONDO:Redundant"} ! dendritic cell sarcoma is_a: MONDO:0020082 {source="Orphanet:86897"} ! dendritic cell tumor relationship: EFO:0000784 CL:0000453 ! has_disease_location Langerhans cell property_value: closeMatch http://identifiers.org/snomedct/128814006 property_value: exactMatch DOID:7146 property_value: exactMatch DOID:7146 property_value: exactMatch http://identifiers.org/mesh/D054752 property_value: exactMatch http://identifiers.org/mesh/D054752 property_value: exactMatch http://identifiers.org/snomedct/724649000 property_value: exactMatch http://identifiers.org/snomedct/724649000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1260327 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1260327 property_value: exactMatch NCIT:C6921 property_value: exactMatch NCIT:C6921 property_value: exactMatch Orphanet:86897 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/sarcoma.yaml property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10491/langerhans-cell-sarcoma xsd:anyURI {source="GARD:0010491"} [Term] id: EFO:0007337 name: laryngeal tuberculosis def: "A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia." [] def: "Extrapulmonary tuberculosis involving the larynx. Signs and symptoms include hoarseness, cough, and odynophagia. The condition is rare." [NCIT:C26895] synonym: "laryngeal tuberculosis" EXACT [] {comment="preferred label from MONDO"} synonym: "larynx tuberculosis" EXACT [MONDO:patterns/location] synonym: "Tuberculosis, Laryngeal" EXACT [] synonym: "tuberculous laryngitis" EXACT [NCIT:C26895] xref: DOID:1583 {source="EFO:0007337", source="MONDO:equivalentTo"} xref: ICD9:012.3 {source="DOID:1583"} xref: ICD9:012.30 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:012.31 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:012.32 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D014387 {source="EFO:0007337", source="DOID:1583", source="MONDO:equivalentTo"} xref: MeSH:D014387 xref: MONDO:0005819 xref: NCIT:C26895 {source="DOID:1583", source="MONDO:equivalentTo"} xref: SCTID:70341005 {source="DOID:1583", source="MONDO:equivalentTo"} xref: UMLS:C0041315 {source="DOID:1583", source="MONDO:equivalentTo"} is_a: MONDO:0000368 {source="https://orcid.org/0000-0002-6670-9157"} ! extrapulmonary tuberculosis is_a: MONDO:0002647 {source="DOID:1583", source="NCIT:C26895"} ! laryngitis is_a: MONDO:0024355 ! respiratory tract infectious disorder property_value: exactMatch DOID:1583 property_value: exactMatch http://identifiers.org/mesh/D014387 property_value: exactMatch http://identifiers.org/snomedct/70341005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041315 property_value: exactMatch NCIT:C26895 property_value: excluded_subClassOf MONDO:0018076 {source="EFO:0007337", source="MESH:D014387", source="MONDO:Redundant", source="NCIT:C26895"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4143 xsd:anyURI [Term] id: EFO:0007338 name: Lassa fever def: "A viral hemorrhagic fever that is caused by the Lassa virus, which is transmitted by contact with infected rodents; it is characterized by fever, headache, malaise, myalgia, and hearing loss." [NCIT:C128418] def: "A viral infectious disease that results_in infection, has_material_basis_in Lassa virus, which is transmitted_by multimammate rat of the genus Mastomys. The infection has_symptom fever, has_symptom retrosternal pain, has_symptom sore throat, has_symptom back pain, has_symptom cough, has_symptom abdominal pain, has_symptom vomiting, has_symptom diarrhea, has_symptom conjunctivitis, has_symptom facial swelling, has_symptom proteinuria (protein in the urine), and has_symptom mucosal bleeding." [] subset: ordo_disease {source="Orphanet:99824"} synonym: "Lassa Fever" EXACT [] synonym: "Lassa fever" EXACT [] {comment="preferred label from MONDO"} synonym: "Lassa hemorrhagic fever" EXACT [Orphanet:99824] synonym: "LF" EXACT ABBREVIATION [Orphanet:99824] xref: DOID:9537 {source="EFO:0007338", source="MONDO:equivalentTo"} xref: ICD10CM:A96.2 {source="DOID:9537", source="MONDO:equivalentTo", source="Orphanet:99824", source="Orphanet:99824/e"} xref: ICD9:078.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10023927 {source="Orphanet:99824", source="Orphanet:99824/e"} xref: MESH:D007835 {source="DOID:9537", source="EFO:0007338", source="MONDO:equivalentTo", source="Orphanet:99824", source="Orphanet:99824/e"} xref: MeSH:D007835 xref: MONDO:0005820 xref: NCIT:C128418 {source="MONDO:equivalentTo"} xref: Orphanet:99824 {source="MONDO:equivalentTo"} xref: SCTID:19065005 {source="DOID:9537", source="MONDO:equivalentTo"} xref: UMLS:C0023092 {source="DOID:9537", source="MONDO:equivalentTo", source="Orphanet:99824", source="NCIT:C128418", source="Orphanet:99824/e"} is_a: EFO:0007151 ! Arenavirus hemorrhagic fever is_a: MONDO:0044750 ! lassa virus infectious disease is_a: MONDO:0100120 ! vector-borne disease property_value: closeMatch http://identifiers.org/meddra/10023927 property_value: exactMatch DOID:9537 property_value: exactMatch http://identifiers.org/mesh/D007835 property_value: exactMatch http://identifiers.org/snomedct/19065005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023092 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A96.2 property_value: exactMatch NCIT:C128418 property_value: exactMatch Orphanet:99824 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007339 name: late congenital syphilis def: "A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities." [] synonym: "juvenile neurosyphilis" EXACT [] synonym: "juvenile neurosyphilis" RELATED [DOID:10039] synonym: "juvenile syphilis" RELATED [] synonym: "late congenital syphilis" EXACT [] {comment="preferred label from MONDO"} synonym: "late congenital syphilis (2 years or more)" EXACT [] synonym: "late congenital syphilis, symptomatic (2 years or more)" RELATED [] synonym: "Neurosyphilis" EXACT [] xref: DOID:10039 {source="EFO:0007339", source="MONDO:equivalentTo"} xref: ICD9:090.4 {source="DOID:10039"} xref: ICD9:090.40 {source="DOID:10039"} xref: ICD9:090.5 {source="DOID:10039", source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:090.7 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10023934 xref: MedDRA:10023935 xref: MeSH:D009494 xref: MONDO:0005821 xref: SCTID:82323002 {source="DOID:10039", source="MONDO:equivalentTo"} is_a: EFO:0007219 {source="DOID:10039", source="EFO:0007339"} ! congenital syphilis property_value: exactMatch DOID:10039 property_value: exactMatch http://identifiers.org/snomedct/82323002 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007340 name: latent syphilis def: "A stage of syphilis characterized by the serologic evidence of infection by Treponema pallidum without evidence of accompanying signs or symptoms related to the disease." [NCIT:P378] def: "A syphilis that is characterized as having serologic proof of infection without signs or symptoms of disease." [] synonym: "latent syphilis" EXACT [] {comment="preferred label from MONDO"} synonym: "Syphilis, Latent" EXACT [] xref: DOID:9531 {source="MONDO:equivalentTo", source="EFO:0007340"} xref: ICD9:097.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9531"} xref: MedDRA:10024026 xref: MedDRA:10070738 xref: MESH:D013592 {source="MONDO:equivalentTo", source="EFO:0007340", source="DOID:9531"} xref: MeSH:D013592 xref: MONDO:0005822 xref: NCIT:C35056 {source="MONDO:equivalentTo", source="DOID:9531"} xref: SCTID:444150000 {source="MONDO:equivalentTo", source="DOID:9531"} xref: UMLS:C0039133 {source="NCIT:C35056", source="MONDO:equivalentTo", source="DOID:9531"} is_a: EFO:0007504 {source="DOID:9531", source="EFO:0007340", source="MESH:D013592", source="NCIT:C35056"} ! syphilis property_value: exactMatch DOID:9531 property_value: exactMatch http://identifiers.org/mesh/D013592 property_value: exactMatch http://identifiers.org/snomedct/444150000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039133 property_value: exactMatch NCIT:C35056 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007341 name: obsolete_Legg-Calve-Perthes Disease def: "An osteochondrosis that results_in death and fracture located_in hip joint." [] synonym: "Calve - Perthes' disease" EXACT [] synonym: "Coxa plana" EXACT [] synonym: "Juvenile osteochond-hip/pelvis" EXACT [] synonym: "juvenile osteochondrosis of hip and pelvis" EXACT [] synonym: "Juvenile osteochondrosis of hip and/or pelvis (disorder)" EXACT [] synonym: "Legg-Calve-Perthes Disease" EXACT [] synonym: "Osteochondrosis of Legg-Calve-Perthes" EXACT [] synonym: "Perthe's disease" EXACT [] synonym: "Perthes disease" EXACT [] synonym: "Pseudocoxalgia" EXACT [] synonym: "pseudocoxalgia" EXACT [] xref: DOID:14415 xref: ICD10:M91 xref: MeSH:D007873 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.98" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication\nUse http://www.orpha.net/ORDO/Orphanet_2380\nLabel : Leg-Calvé-Perthes disease" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_2380 [Term] id: EFO:0007342 name: legionellosis def: "A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea." [] def: "Any disease caused by Legionella bacteria." [NCIT:C128334] subset: ordo_disease {source="Orphanet:549"} synonym: "Legionella infection" EXACT [DOID:10458] synonym: "Legionella infection (disorder)" EXACT [] synonym: "Legionellosis" EXACT [] synonym: "legionellosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Legionnaires disease" EXACT [Orphanet:549] xref: DOID:10458 {source="MONDO:equivalentTo", source="EFO:0007342"} xref: MedDRA:10035718 {source="Orphanet:549", source="Orphanet:549/e"} xref: MedDRA:10061266 {source="Orphanet:549", source="Orphanet:549/e"} xref: MESH:D007876 {source="DOID:10458", source="MONDO:equivalentTo", source="Orphanet:549", source="EFO:0007342", source="Orphanet:549/e"} xref: MeSH:D007876 xref: MONDO:0005823 xref: NCIT:C128334 {source="MONDO:equivalentTo"} xref: Orphanet:549 {source="MONDO:equivalentTo"} xref: Orphanet:600832 {source="MONDO:equivalentTo"} xref: SCTID:26726000 {source="DOID:10458", source="MONDO:equivalentTo"} xref: UMLS:C0023240 {source="DOID:10458", source="NCIT:C128334", source="MONDO:equivalentTo", source="Orphanet:549", source="Orphanet:549/e"} xref: UMLS:CN205282 {source="MONDO:equivalentTo"} is_a: MONDO:0000314 {source="DOID:10458"} ! primary bacterial infectious disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare property_value: closeMatch http://identifiers.org/meddra/10035718 property_value: closeMatch http://identifiers.org/meddra/10061266 property_value: exactMatch DOID:10458 property_value: exactMatch http://identifiers.org/mesh/D007876 property_value: exactMatch http://identifiers.org/snomedct/26726000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023240 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205282 property_value: exactMatch NCIT:C128334 property_value: exactMatch Orphanet:549 property_value: exactMatch Orphanet:600832 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007343 name: Legionnaires' disease def: "A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough." [] def: "A pneumonia caused by Legionella pneumophila and other Legionella species, which is characterized by fever, cough, progressive respiratory distress, and which is often accompanied by extrapulmonary manifestations." [NCIT:C128339] synonym: "(Legionella) or (Legionnaire's disease)" EXACT [] synonym: "infection by Legionella pneumophilia" EXACT [DOID:10457] synonym: "Infection by Legionella pneumophilia (disorder)" EXACT [] synonym: "Legionella" EXACT [DOID:10457] synonym: "Legionella pneumonia" EXACT [NCIT:C128339] synonym: "Legionella pneumonia (disorder)" EXACT [] synonym: "legionnaire's disease" EXACT [DOID:10457] synonym: "Legionnaires' Disease" EXACT [] synonym: "Legionnaires' disease" EXACT [] {comment="preferred label from MONDO"} xref: DOID:10457 {source="MONDO:equivalentTo", source="EFO:0007343"} xref: ICD9:482.84 {source="DOID:10457", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D007877 {source="DOID:10457", source="MONDO:equivalentTo", source="EFO:0007343"} xref: MeSH:D007877 xref: MONDO:0005824 xref: NCIT:C128339 {source="MONDO:equivalentTo"} xref: SCTID:195889001 {source="DOID:10457", source="MONDO:equivalentTo"} is_a: EFO:0007342 {source="DOID:10457", source="MESH:D007877"} ! legionellosis is_a: EFO:1001272 {source="NCIT:C128339"} ! bacterial pneumonia property_value: exactMatch DOID:10457 property_value: exactMatch http://identifiers.org/mesh/D007877 property_value: exactMatch http://identifiers.org/snomedct/195889001 property_value: exactMatch NCIT:C128339 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007344 name: leptospirosis def: "A contagious bacterial infection caused by spirochetes of the genus Leptospira. Humans are infected by contact with water and soil which have been contaminated with animal waste products. The signs and symptoms include an initial flu-like phase, followed by a second phase in which patients may develop meningitis, liver failure and renal failure." [NCIT:P378] def: "A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted_by contact with water, food, or soil containing urine from the infected animals. The infection has_symptom jaundice, has_symptom chills, has_symptom fever, has_symptom muscle pain, and has_symptom hepatomegaly." [] subset: gard_rare {source="GARD:0007881"} subset: ordo_disease {source="Orphanet:509"} synonym: "cane cutter's fever" RELATED [] synonym: "cane-cutter fever" RELATED [GARD:0007881] synonym: "canicola fever" RELATED [GARD:0007881] synonym: "Fort Bragg fever" EXACT [] synonym: "fort Bragg fever" EXACT [DOID:2297] synonym: "harvest fever" RELATED [] synonym: "hemorrhagic jaundice" RELATED [GARD:0007881] synonym: "Icterohemorrhagic fever" RELATED [GARD:0007881] synonym: "infection due to Leptospira" RELATED [] synonym: "japanese autumnal fever" RELATED [] synonym: "Leptospira caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Leptospira disease or disorder" EXACT [] synonym: "Leptospira infectious disease" EXACT [] synonym: "Leptospiral or spirochetal jaundice" EXACT [] synonym: "Leptospirosis" EXACT [] synonym: "leptospirosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Leptospirosis icterohaemorrhagica" EXACT [] synonym: "leptospirosis icterohaemorrhagica" EXACT [DOID:2297] synonym: "Leptospirosis icterohemorrhagica" EXACT [] synonym: "Leptospirosis icterohemorrhagica (disorder)" EXACT [] synonym: "mud fever" RELATED [GARD:0007881] synonym: "nanukayami fever" EXACT [DOID:2297] synonym: "Queensland fever" RELATED [] synonym: "Rat Catcher's Yellows" EXACT [] synonym: "rat catcher's yellows" EXACT [DOID:2297] synonym: "rice-field fever" RELATED [GARD:0007881] synonym: "rice-field worker's disease" RELATED [] synonym: "seven day fever" RELATED [] synonym: "spirochetal jaundice" EXACT [DOID:2297] synonym: "Stuttgart disease" RELATED [GARD:0007881] synonym: "swamp fever" RELATED [GARD:0007881] synonym: "swineherd's disease" RELATED [GARD:0007881] synonym: "Weil disease" RELATED [GARD:0007881] synonym: "Weil's disease" EXACT [] synonym: "Weil's disease (disorder)" EXACT [] xref: DOID:2297 {source="MONDO:equivalentTo", source="EFO:0007344"} xref: ICD10:A27 xref: ICD10CM:A27 {source="DOID:2297", source="MONDO:equivalentTo"} xref: ICD9:100 {source="DOID:2297"} xref: ICD9:100.0 {source="DOID:2297"} xref: ICD9:100.89 xref: ICD9:100.9 {source="DOID:2297"} xref: MedDRA:10024238 {source="Orphanet:509/e", source="Orphanet:509"} xref: MedDRA:10024241 xref: MESH:D007922 {source="DOID:2297", source="Orphanet:509/e", source="MONDO:equivalentTo", source="Orphanet:509", source="EFO:0007344"} xref: MeSH:D007922 xref: MONDO:0005825 xref: NCIT:C84825 {source="DOID:2297", source="MONDO:equivalentTo"} xref: Orphanet:509 {source="MONDO:equivalentTo"} xref: SCTID:77377001 {source="DOID:2297", source="MONDO:equivalentTo"} xref: UMLS:C0023364 {source="DOID:2297", source="Orphanet:509/e", source="NCIT:C84825", source="MONDO:equivalentTo", source="Orphanet:509"} is_a: EFO:0009567 ! Spirochaetales Infections is_a: MONDO:0000314 {source="DOID:2297"} ! primary bacterial infectious disease property_value: closeMatch http://identifiers.org/meddra/10024238 property_value: exactMatch DOID:2297 property_value: exactMatch http://identifiers.org/mesh/D007922 property_value: exactMatch http://identifiers.org/snomedct/77377001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023364 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A27 property_value: exactMatch NCIT:C84825 property_value: exactMatch Orphanet:509 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7881/leptospirosis xsd:anyURI {source="GARD:0007881"} [Term] id: EFO:0007345 name: lipid pneumonia def: "An aspiration pneumonitis resulting from the aspiration of lipids. It is the result of a foreign body-type reaction to the presence of lipid material within the lung parenchyma. It is caused by inhalation of nasal drops with oil base or cosmetic oil and aspiration of mineral oil when used as a laxative agent." [] def: "Pneumonia due to aspiration or inhalation of various oily or fatty substances." [MESH:D011017] synonym: "cholesterol pneumonia" RELATED [https://orcid.org/0000-0003-0113-912X] synonym: "Exogenous lipoid pneumonia" EXACT [] synonym: "exogenous lipoid pneumonia" EXACT [DOID:3241] synonym: "lipid pneumonia" EXACT [] {comment="preferred label from MONDO"} synonym: "lipoid pneumonitis" EXACT [DOID:3241, https://orcid.org/0000-0003-0113-912X] synonym: "Lipoid pneumonitis (disorder)" EXACT [] synonym: "lipoidpneumonitis" EXACT [https://orcid.org/0000-0003-0113-912X] synonym: "pneumonia lipid" RELATED [GARD:0006394] synonym: "Pneumonia, Lipid" EXACT [] synonym: "Pneumonitis due to inhalation of oils (disorder) [Ambiguous]" EXACT [] synonym: "pneumonitis due to inhalation of oils and essences" EXACT [] xref: DOID:3241 {source="EFO:0007345", source="MONDO:equivalentTo"} xref: MedDRA:10024583 xref: MESH:D011017 {source="EFO:0007345", source="MONDO:equivalentTo", source="DOID:3241"} xref: MeSH:D011017 xref: MONDO:0005826 xref: SCTID:707449006 {source="MONDO:equivalentTo", source="DOID:3241"} xref: UMLS:C0032298 {source="MONDO:equivalentTo", source="DOID:3241"} is_a: EFO:1001399 {source="DOID:3241"} ! Pneumonia, Aspiration property_value: exactMatch DOID:3241 property_value: exactMatch http://identifiers.org/mesh/D011017 property_value: exactMatch http://identifiers.org/snomedct/707449006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032298 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007346 name: lipoatrophic diabetes def: "A rare syndrome characterized by almost complete absence of body fat, accentuated muscularity, insulin-resistant diabetes, hyperlipidemia, hepatomegaly, and hypermetabolism." [NCIT:P378] def: "A type 2 diabetes that involves severe lipodystrophy in addition to the traditional signs of diabetes." [] synonym: "diabete, lipoatrophic" EXACT [MESH:D003923] synonym: "Diabetes Mellitus, Lipoatrophic" EXACT [] synonym: "diabetes, lipoatrophic" RELATED [MESH:D003923] synonym: "lipoatrophic diabete" RELATED [MESH:D003923] synonym: "lipoatrophic diabetes" EXACT [] {comment="preferred label from MONDO"} synonym: "lipoatrophic diabetes" EXACT [MESH:D003923] synonym: "lipoatrophic diabetes mellitus" RELATED [MESH:D003923] xref: DOID:11712 {source="EFO:0007346", source="MONDO:equivalentTo"} xref: MedDRA:10024603 xref: MESH:D003923 {source="EFO:0007346", source="DOID:11712", source="MONDO:equivalentTo"} xref: MeSH:D003923 xref: MONDO:0005827 xref: NCIT:C34537 {source="DOID:11712", source="MONDO:equivalentTo"} xref: SCTID:127012008 {source="DOID:11712", source="MONDO:equivalentTo"} xref: SCTID:71325002 {source="DOID:11712", source="MONDO:relatedTo"} is_a: MONDO:0005148 {source="DOID:11712", source="EFO:0007346", source="MESH:D003923"} ! type 2 diabetes mellitus property_value: exactMatch DOID:11712 property_value: exactMatch http://identifiers.org/mesh/D003923 property_value: exactMatch http://identifiers.org/snomedct/127012008 property_value: exactMatch NCIT:C34537 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007347 name: listeriosis def: "A bacterial infection caused by Listeria monocytogenes. It occurs in newborns, elderly, and immunocompromised patients. The bacteria are transmitted through ingestion of contaminated food. Clinical manifestations include fever, muscle pain, respiratory distress, nausea, diarrhea, neck stiffness, irritability, seizures, and lethargy." [NCIT:P378] def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth." [] subset: ordo_disease {source="Orphanet:533"} synonym: "Infection by Listeria monocytogenes" EXACT [] synonym: "infection by Listeria monocytogenes" EXACT [DOID:11573] synonym: "Infection due to Listeria monocytogenes (disorder)" EXACT [] synonym: "Listeria infection" EXACT [DOID:11573] synonym: "Listeria monocytogenes caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Listeria monocytogenes disease or disorder" EXACT [] synonym: "Listeria monocytogenes infection" RELATED [GARD:0006915] synonym: "Listeria monocytogenes infectious disease" EXACT [] synonym: "Listeriosis" EXACT [] synonym: "listeriosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Listeriosis (disorder)" EXACT [] synonym: "Listeriosis NOS (disorder)" EXACT [] synonym: "Listeriosis, unspecified (disorder)" EXACT [] xref: DOID:11573 {source="EFO:0007347", source="MONDO:equivalentTo"} xref: ICD10:A32 xref: ICD10CM:A32 {source="MONDO:equivalentTo", source="DOID:11573"} xref: ICD9:027.0 {source="DOID:11573"} xref: MedDRA:10024641 {source="Orphanet:533", source="Orphanet:533/e"} xref: MESH:D008088 {source="Orphanet:533", source="EFO:0007347", source="MONDO:equivalentTo", source="Orphanet:533/e", source="DOID:11573"} xref: MeSH:D008088 xref: MONDO:0005828 xref: NCIT:C82994 {source="MONDO:equivalentTo", source="DOID:11573"} xref: Orphanet:533 {source="MONDO:equivalentTo"} xref: UMLS:C0023860 {source="Orphanet:533", source="NCIT:C82994", source="MONDO:equivalentTo", source="Orphanet:533/e", source="DOID:11573"} is_a: MONDO:0000314 {source="DOID:11573"} ! primary bacterial infectious disease is_a: MONDO:0100120 ! vector-borne disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare property_value: closeMatch http://identifiers.org/meddra/10024641 property_value: exactMatch DOID:11573 property_value: exactMatch http://identifiers.org/mesh/D008088 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023860 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A32 property_value: exactMatch NCIT:C82994 property_value: exactMatch Orphanet:533 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007348 name: louping ill def: "A viral infectious disease that results_in infection in sheep and rarely humans, has_material_basis_in Louping ill virus, which is transmitted_by sheep tick, Ixodes ricinus. The infection has_symptom lethargy, has_symptom muscle pains, has_symptom fever, and has_symptom focal neurological signs." [] def: "An acute tick-borne arbovirus infection causing meningoencephalomyelitis of sheep." [MESH:D008146] synonym: "Louping Ill" EXACT [] synonym: "Louping ill" EXACT [DOID:10250, ICD9CM:063.1] synonym: "louping ill" EXACT [] {comment="preferred label from MONDO"} xref: DOID:10250 {source="EFO:0007348", source="MONDO:equivalentTo"} xref: ICD9:063.1 {source="DOID:10250"} xref: MedDRA:10024887 xref: MESH:D008146 {source="EFO:0007348", source="MONDO:equivalentTo", source="DOID:10250"} xref: MeSH:D008146 xref: MONDO:0005829 xref: UMLS:C0024025 {source="MONDO:equivalentTo", source="DOID:10250"} is_a: MONDO:0024985 ! sheep disease is_a: MONDO:0700053 {source="DOID:10250", source="MESH:D008146/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! viral infectious disease, non-human animal property_value: exactMatch DOID:10250 property_value: exactMatch http://identifiers.org/mesh/D008146 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024025 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: RO:0002175 NCBITaxon:9940 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"} [Term] id: EFO:0007349 name: lumpy skin disease def: "A poxvirus infection of cattle characterized by the appearance of nodules on all parts of the skin." [MESH:D008166] def: "A viral infectious disease that results_in infection located_in skin and located_in mucous membrane of cattle, has_material_basis_in Lumpy skin disease virus, which results_in_formation_of nodules on the skin particularly on the head, neck, udder, genitalia, perineum and legs, has_symptom fever, and has_symptom lymphadenopathy." [] synonym: "Lumpy Skin Disease" EXACT [] synonym: "lumpy skin disease" EXACT [] {comment="preferred label from MONDO"} xref: DOID:3293 xref: MESH:D008166 {source="EFO:0007349", source="MONDO:equivalentTo"} xref: MeSH:D008166 xref: MONDO:0005830 xref: UMLS:C0024106 {source="MONDO:equivalentTo"} is_a: EFO:0000763 {source="EFO:0007349", source="MESH:D008166/inferred"} ! viral disease property_value: exactMatch http://identifiers.org/mesh/D008166 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024106 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007350 name: lymph node tuberculosis def: "An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough." [] def: "Tuberculosis of the lymph node." [NCIT:P378] synonym: "king's evil" EXACT [DOID:4889] synonym: "Lymph Node Tuberculosis" EXACT [] synonym: "lymph node tuberculosis" EXACT [DOID:4889, MONDO:patterns/location, NCIT:C26896] synonym: "lymph node tuberculosis" EXACT [] {comment="preferred label from MONDO"} synonym: "scrofula" EXACT [DOID:4889] synonym: "Tuberculosis, Lymph Node" EXACT [] synonym: "Tuberculous adenitis" EXACT [] synonym: "tuberculous adenitis" EXACT [DOID:4889] synonym: "Tuberculous lymphadenopathy" EXACT [] synonym: "tuberculous lymphadenopathy" EXACT [DOID:4889] xref: DOID:4889 {source="MONDO:equivalentTo", source="EFO:0007350"} xref: MedDRA:10025183 xref: MESH:D014388 {source="MONDO:equivalentTo", source="DOID:4889", source="EFO:0007350"} xref: MeSH:D014388 xref: MONDO:0005831 xref: NCIT:C26896 {source="MONDO:equivalentTo", source="DOID:4889"} xref: SCTID:10893003 {source="MONDO:equivalentTo", source="DOID:4889"} is_a: MONDO:0000368 {source="DOID:4889"} ! extrapulmonary tuberculosis is_a: MONDO:0004928 {source="DOID:4889", source="MONDO:Redundant"} ! lymph node disorder relationship: EFO:0000784 UBERON:0000029 ! has_disease_location lymph node property_value: exactMatch DOID:4889 property_value: exactMatch http://identifiers.org/mesh/D014388 property_value: exactMatch http://identifiers.org/snomedct/10893003 property_value: exactMatch NCIT:C26896 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007351 name: lymphangitis def: "A lymphatic system disease that is characterized by inflammation of the lymphatic channels which occurs as a result of infection at a site distal to the channel. It is caused by Streptococcus pyogenes (Group A strep) or Staphylococcus aureus. Lymphangitis is also sometimes called blood poisoning." [] def: "Inflammation of the lymphatic vessels." [NCIT:P378] synonym: "inflammation of lymphatic vessel" EXACT [] synonym: "Lymphangitis" EXACT [] synonym: "lymphangitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Lymphangitis (disorder)" EXACT [] synonym: "Lymphangitis NOS" EXACT [] synonym: "lymphatic vessel inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:9317 {source="MONDO:equivalentTo", source="EFO:0007351"} xref: ICD10CM:I89.1 {source="DOID:9317", source="MONDO:equivalentTo"} xref: ICD9:457.2 {source="DOID:9317", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10025226 xref: MESH:D008205 {source="DOID:9317", source="MONDO:equivalentTo", source="EFO:0007351"} xref: MeSH:D008205 xref: MONDO:0005832 xref: NCIT:C34790 {source="DOID:9317", source="MONDO:equivalentTo"} xref: SCTID:1415005 {source="DOID:9317", source="MONDO:equivalentTo"} xref: UMLS:C0024225 {source="DOID:9317", source="NCIT:C34790", source="MONDO:equivalentTo"} is_a: EFO:0005803 ! hematologic disease is_a: EFO:0006803 ! vasculitis is_a: EFO:0007352 {source="DOID:9317", source="MESH:D008205", source="MONDO:Redundant"} ! lymphatic system disease property_value: exactMatch DOID:9317 property_value: exactMatch http://identifiers.org/mesh/D008205 property_value: exactMatch http://identifiers.org/snomedct/1415005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024225 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/I89.1 property_value: exactMatch NCIT:C34790 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007352 name: lymphatic system disease def: "a disease in lymphatic system" [] def: "A disease involving the lymphatic part of lymphoid system." [https://orcid.org/0000-0002-6601-2165] comment: Editor note: check alignment to anatomy, consider lymphoid system disease synonym: "adenopathy" RELATED [DOID:75] synonym: "disease of lymphatic part of lymphoid system" EXACT [MONDO:patterns/location_top] synonym: "disease of lympoid system" RELATED [DOID:75] synonym: "disease or disorder of lymphatic part of lymphoid system" EXACT [] synonym: "disorder of lymph node and lymphatics" EXACT [DOID:75] synonym: "disorder of lymphatic part of lymphoid system" EXACT [MONDO:patterns/location_top] synonym: "disorder of lymphatic system" EXACT [DOID:75] synonym: "disorder of lymphoid system" RELATED [DOID:75] synonym: "glands, swollen" EXACT [NCIT:C50764] synonym: "lymphadenopathy" NARROW [NCIT:C50764] synonym: "lymphangiopathy" NARROW [DOID:75] synonym: "lymphatic disease" EXACT [DOID:75, MTH:461, MTH:NOCODE] synonym: "lymphatic disorder" EXACT [DOID:75, NCIT:C3206] synonym: "lymphatic part of lymphoid system disease" EXACT [MONDO:patterns/location] synonym: "lymphatic part of lymphoid system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "lymphatic system disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "lympoid system disease" RELATED [DOID:75] synonym: "swollen gland" EXACT [NCIT:C50764] synonym: "swollen glands" EXACT [NCIT:C50764] xref: DOID:75 {source="MONDO:equivalentTo"} xref: ICD10:I89 xref: ICD10:J35 xref: MESH:D008206 {source="DOID:75", source="MONDO:equivalentTo"} xref: MONDO:0005833 xref: NCIT:C50764 {source="MONDO:equivalentTo"} xref: SCTID:362971004 {source="DOID:75", source="MONDO:equivalentTo"} xref: UMLS:C0024228 {source="DOID:75", source="MONDO:equivalentTo"} is_a: MONDO:0044986 ! lymphoid system disorder property_value: exactMatch DOID:75 property_value: exactMatch http://identifiers.org/mesh/D008206 property_value: exactMatch http://identifiers.org/snomedct/362971004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024228 property_value: exactMatch NCIT:C50764 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007353 name: lymphogranuloma venereum def: "A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis." [] def: "Infection with the organism Mycobacterium." [NCIT:P378] subset: gard_rare {source="GARD:0009545"} synonym: "Climatic or tropical bubo" EXACT [] synonym: "climatic or tropical bubo" EXACT [DOID:13819] synonym: "Durand-Nicolas-Favre disease" EXACT [DOID:13819] synonym: "LGV" RELATED ABBREVIATION [GARD:0009545] synonym: "lymph granuloma inguinale" EXACT [MONDO:patterns/location] synonym: "Lymphogranuloma inguinale" EXACT [] synonym: "lymphogranuloma inguinale" EXACT [DOID:13819] synonym: "Lymphogranuloma Venereum" EXACT [] synonym: "lymphogranuloma venereum" EXACT [] {comment="preferred label from MONDO"} synonym: "Poradenitis inguinale" EXACT [DOID:13819] synonym: "Strumous bubo" EXACT [] synonym: "strumous bubo" EXACT [DOID:13819] xref: DOID:13819 {source="MONDO:equivalentTo", source="EFO:0007353"} xref: ICD9:099.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13819"} xref: MedDRA:10025297 xref: MESH:D008219 {source="MONDO:equivalentTo", source="DOID:13819", source="EFO:0007353"} xref: MeSH:D008219 xref: MONDO:0005834 xref: NCIT:C26822 {source="MONDO:equivalentTo", source="DOID:13819"} xref: SCTID:186946009 {source="MONDO:equivalentTo", source="DOID:13819"} xref: UMLS:C0024286 {source="MONDO:equivalentTo", source="DOID:13819", source="NCIT:C26822"} is_a: EFO:0007205 {source="MONDO:Redundant"} ! Chlamydia trachomatis infectious disease is_a: EFO:0007291 {source="DOID:13819", source="MONDO:Entailed", source="MONDO:Redundant"} ! granuloma inguinale is_a: EFO:0007352 ! lymphatic system disease property_value: exactMatch DOID:13819 property_value: exactMatch http://identifiers.org/mesh/D008219 property_value: exactMatch http://identifiers.org/snomedct/186946009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024286 property_value: exactMatch NCIT:C26822 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9545/lymphogranuloma-venereum xsd:anyURI {source="GARD:0009545"} [Term] id: EFO:0007354 name: obsolete_Lynch syndrome def: "An autosomal dominant disease that is characterized by \\nand has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers. and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers.\"" [] synonym: "COCA 1" EXACT [] synonym: "Colorectal Neoplasms, Hereditary Nonpolyposis" EXACT [] synonym: "Hereditary Defective Mismatch Repair syndrome" EXACT [] synonym: "hereditary non-polyposis colon cancer type 1" EXACT [] synonym: "hereditary nonpolyposis colorectal cancer" EXACT [] synonym: "hereditary nonpolyposis colorectal neoplasm" EXACT [] synonym: "HNPCC - hereditary nonpolyposis colon cancer" EXACT [] xref: DOID:3883 xref: MeSH:D003123 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.77" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use orphanet_144" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_144 [Term] id: EFO:0007355 name: male reproductive organ cancer def: "A primary or metastatic malignant neoplasm involving the male reproductive system. Representative examples include prostate carcinoma, penile carcinoma, testicular seminoma, and testicular embryonal carcinoma." [NCIT:C8561] synonym: "cancer of male reproductive organ" EXACT [MONDO:patterns/cancer] synonym: "male genital cancer" EXACT [DOID:3856] synonym: "male genital neoplasm" BROAD [DOID:3856] synonym: "male reproductive organ cancer" EXACT [] {comment="preferred label from MONDO"} synonym: "male reproductive organ cancer" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "male reproductive organ cancer" EXACT [MONDO:patterns/location] synonym: "male reproductive system neoplasm" BROAD [CSP2005:2016-2462, DOID:3856] synonym: "male reproductive system neoplasm" BROAD [DOID:3856] synonym: "malignant male reproductive organ neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant Male reproductive system neoplasm" EXACT [NCIT:C8561] synonym: "malignant Male reproductive system tumor" EXACT [NCIT:C8561] synonym: "malignant Male reproductive system tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of male genital organ" EXACT [DOID:3856] synonym: "malignant neoplasm of male genital organ or tract" EXACT [DOID:3856] synonym: "malignant neoplasm of male genital organ, site unspecified" EXACT [DOID:3856, ICD9CM:187.9] synonym: "malignant neoplasm of male genital organ, site unspecified" EXACT [DOID:3856, ICD9CM_2006:187.9] synonym: "malignant neoplasm of male genital organs" EXACT [DOID:3856] synonym: "malignant neoplasm of male reproductive organ" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of Male reproductive system" EXACT [NCIT:C8561] synonym: "malignant neoplasm of the Male reproductive system" EXACT [NCIT:C8561] synonym: "malignant tumor of male genital organ" EXACT [DOID:3856, MTH:U001031] synonym: "malignant tumor of Male reproductive system" EXACT [NCIT:C8561] synonym: "malignant tumor of male reproductive system" EXACT [DOID:3856, NCIT:C8561] synonym: "malignant tumor of the Male reproductive system" EXACT [NCIT:C8561] synonym: "malignant tumour of male genital organ" EXACT OMO:0003005 [] synonym: "malignant tumour of Male reproductive system" EXACT OMO:0003005 [] synonym: "malignant tumour of male reproductive system" EXACT OMO:0003005 [] synonym: "malignant tumour of the Male reproductive system" EXACT OMO:0003005 [] synonym: "neoplasm of male genital organ" BROAD [DOID:3856] synonym: "tumor of male reproductive system" BROAD [DOID:3856, NCIT:C3054] synonym: "tumour of male reproductive system" BROAD OMO:0003005 [] xref: DOID:3856 {source="MONDO:equivalentTo", source="EFO:0007355"} xref: EFO:0007355 {source="MONDO:equivalentTo"} xref: ICD10:C60-C63 {source="DOID:3856"} xref: ICD10:C63.9 {source="DOID:3856"} xref: ICD9:187.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:187.8 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:187.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:3856"} xref: ICD9:187.9 {source="MONDO:equivalentTo", source="DOID:3856", source="i2s"} xref: MESH:D005834 {source="MONDO:equivalentTo", source="DOID:3856", source="EFO:0007355"} xref: MONDO:0005836 xref: NCIT:C8561 {source="MONDO:equivalentTo", source="DOID:3856"} xref: SCTID:363515000 {source="MONDO:equivalentTo", source="DOID:3856"} is_a: MONDO:0002149 {source="DOID:3856", source="MONDO:Redundant", source="NCIT:C8561"} ! reproductive system cancer is_a: MONDO:0024582 {source="MONDO:Redundant", source="NCIT:C8561"} ! male reproductive system neoplasm property_value: closeMatch http://identifiers.org/snomedct/190127000 property_value: closeMatch http://identifiers.org/snomedct/190130007 property_value: closeMatch http://identifiers.org/snomedct/93885006 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0017417 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153606 property_value: exactMatch DOID:3856 property_value: exactMatch DOID:3856 property_value: exactMatch http://identifiers.org/mesh/D005834 property_value: exactMatch http://identifiers.org/mesh/D005834 property_value: exactMatch http://identifiers.org/snomedct/363515000 property_value: exactMatch http://identifiers.org/snomedct/363515000 property_value: exactMatch NCIT:C8561 property_value: exactMatch NCIT:C8561 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/cancer.yaml [Term] id: EFO:0007356 name: mandibular cancer def: "A malignant neoplasm involving the mandible" [https://orcid.org/0000-0002-6601-2165] def: "A malignant neoplasm involving the mandible" [MONDO:DesignPattern] synonym: "cancer of mandible" EXACT [MONDO:patterns/cancer] synonym: "malignant mandible neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of inferior maxilla" EXACT [DOID:2338, MTHICD9_2006:170.1] synonym: "malignant neoplasm of inferior maxilla" EXACT [DOID:2338] synonym: "malignant neoplasm of lower jaw bone" EXACT [DOID:2338, NCIT:C35178] synonym: "malignant neoplasm of mandible" EXACT [DOID:2338, MONDO:patterns/cancer] synonym: "mandible cancer" EXACT [DOID:2338, MONDO:patterns/location] synonym: "mandibular cancer" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "mandibular cancer" EXACT [] {comment="preferred label from MONDO"} synonym: "mandibular neoplasm" BROAD [DOID:2338] synonym: "neoplasm of mandible" BROAD [DOID:2338] xref: COHD:40490993 {source="MONDO:equivalentTo"} xref: DOID:2338 {source="EFO:0007356", source="MONDO:equivalentTo"} xref: EFO:0007356 {source="MONDO:equivalentTo"} xref: ICD10:C41.1 {source="DOID:2338"} xref: ICD9:170.1 {source="MONDO:equivalentTo", source="DOID:2338", source="i2s"} xref: ICD9:170.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2338"} xref: MESH:D008339 {source="EFO:0007356", source="MONDO:equivalentTo", source="DOID:2338"} xref: MONDO:0005837 xref: NCIT:C35178 {source="MONDO:equivalentTo", source="DOID:2338"} xref: SCTID:448668007 {source="MONDO:equivalentTo", source="DOID:2338"} is_a: EFO:0007333 {source="DOID:2338", source="MESH:D008339", source="MONDO:Entailed", source="MONDO:Redundant"} ! jaw cancer property_value: closeMatch http://identifiers.org/snomedct/126551000 property_value: closeMatch http://identifiers.org/snomedct/187915001 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0024694 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153511 property_value: exactMatch DOID:2338 property_value: exactMatch DOID:2338 property_value: exactMatch http://identifiers.org/mesh/D008339 property_value: exactMatch http://identifiers.org/mesh/D008339 property_value: exactMatch http://identifiers.org/snomedct/448668007 property_value: exactMatch http://identifiers.org/snomedct/448668007 property_value: exactMatch NCIT:C35178 property_value: exactMatch NCIT:C35178 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/cancer.yaml [Term] id: EFO:0007357 name: mansonelliasis def: "A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies." [] def: "A parasitic infection caused by the nematode Mansonella. Signs and symptoms include pruritus, headache, fever, arthralgias, and eosinophilia." [NCIT:P378] subset: gard_rare {source="GARD:0008216"} subset: ordo_disease {source="Orphanet:2459"} synonym: "Mansonella perstans infections" RELATED [GARD:0008216] synonym: "Mansonelliasis" EXACT [] synonym: "mansonelliasis" EXACT [] {comment="preferred label from MONDO"} synonym: "Mansonelliasis (disorder)" EXACT [] synonym: "Mansonellosis" EXACT [Orphanet:2459] xref: DOID:1081 {source="EFO:0007357", source="MONDO:equivalentTo"} xref: ICD10CM:B74.4 {source="MONDO:equivalentTo", source="Orphanet:2459", source="DOID:1081", source="Orphanet:2459/e"} xref: MESH:D008368 {source="EFO:0007357", source="MONDO:equivalentTo", source="DOID:1081"} xref: MeSH:D008368 xref: MONDO:0005838 xref: NCIT:C84882 {source="MONDO:equivalentTo", source="DOID:1081"} xref: Orphanet:2459 {source="MONDO:equivalentTo"} xref: SCTID:240849009 {source="MONDO:equivalentTo", source="DOID:1081"} xref: UMLS:C0024759 {source="MONDO:equivalentTo", source="Orphanet:2459", source="DOID:1081", source="NCIT:C84882"} is_a: EFO:0000701 ! skin disease is_a: MONDO:0016075 {source="DOID:1081", source="ICD10CM:B74.4", source="MESH:D008368", source="Orphanet:2459"} ! filariasis property_value: exactMatch DOID:1081 property_value: exactMatch http://identifiers.org/mesh/D008368 property_value: exactMatch http://identifiers.org/snomedct/240849009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024759 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B74.4 property_value: exactMatch NCIT:C84882 property_value: exactMatch Orphanet:2459 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8216/mansonelliasis xsd:anyURI {source="GARD:0008216"} [Term] id: EFO:0007358 name: Marburg hemorrhagic fever def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Marburgvirus, which is transmitted_by contact with the body fluids of an infected person. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash on the trunk, has_symptom nausea, has_symptom vomiting, has_symptom chest pain, has_symptom sore throat, has_symptom abdominal pain, has_symptom diarrhea, and has_symptom bleeding." [] def: "Marburg hemorrhagic fever (MHF), caused by Marburg virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure." [Orphanet:99826] subset: gard_rare {source="GARD:0009444"} subset: ordo_disease {source="Orphanet:99826"} synonym: "Green monkey disease" EXACT [Orphanet:99826] synonym: "Marburg disease" EXACT [DOID:4327] synonym: "Marburg hemorrhagic fever" EXACT [] {comment="preferred label from MONDO"} synonym: "Marburg Virus Disease" EXACT [] synonym: "Marburg virus disease" EXACT [DOID:4327, Orphanet:99826] synonym: "MHF" EXACT ABBREVIATION [Orphanet:99826] xref: DOID:4327 {source="EFO:0007358", source="MONDO:equivalentTo"} xref: ICD9:078.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10026822 {source="Orphanet:99826", source="Orphanet:99826/e"} xref: MESH:D008379 {source="EFO:0007358", source="DOID:4327", source="MONDO:equivalentTo"} xref: MeSH:D008379 xref: MONDO:0020500 xref: NCIT:C84883 {source="DOID:4327", source="MONDO:equivalentTo"} xref: Orphanet:99826 {source="MONDO:equivalentTo"} xref: SCTID:77503002 {source="DOID:4327", source="MONDO:equivalentTo"} xref: UMLS:C0024788 {source="DOID:4327", source="MONDO:equivalentTo", source="Orphanet:99826", source="NCIT:C84883"} is_a: MONDO:0018087 {source="MESH:D008379", source="Orphanet:99826"} ! viral hemorrhagic fever property_value: closeMatch http://identifiers.org/meddra/10026822 property_value: exactMatch DOID:4327 property_value: exactMatch http://identifiers.org/mesh/D008379 property_value: exactMatch http://identifiers.org/snomedct/77503002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024788 property_value: exactMatch NCIT:C84883 property_value: exactMatch Orphanet:99826 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9444/marburg-hemorrhagic-fever xsd:anyURI {source="GARD:0009444"} [Term] id: EFO:0007359 name: mast-cell leukemia def: "Mast cell leukemia is a malignant form of systemic mastocytosis (SM) characterized, most of the time, by the presence of circulating mast cells." [Orphanet:98851] subset: disease_grouping subset: ordo_disease {source="Orphanet:158799"} subset: ordo_group_of_disorders {source="Orphanet:98851"} synonym: "aleukemic mast cell leukaemia" EXACT OMO:0003005 [] synonym: "aleukemic mast cell leukemia" EXACT [MONDO:0015561] synonym: "Mast cell leukaemia" EXACT OMO:0003005 [] synonym: "Mast cell leukemia" EXACT [NCIT:C3169] synonym: "mast cell leukemia" EXACT [] {comment="preferred label from MONDO"} synonym: "mast cell leukemia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "mast-cell leukaemia" EXACT OMO:0003005 [] synonym: "mast-cell leukemia" EXACT [MONDO:0005840] synonym: "SMMCL" RELATED ABBREVIATION [ONCOTREE:SMMCL] xref: DOID:9254 {source="EFO:0007359", source="MONDO:equivalentTo"} xref: EFO:0007359 {source="MONDO:equivalentTo"} xref: ICD10:C94.3 {source="Orphanet:98851", source="Orphanet:158799", source="ORDO:158799/ntbt", source="DOID:9254", source="ORDO:98851/e"} xref: ICD10:C94.30 {source="DOID:9254"} xref: ICDO:9742/3 {source="NCIT:C3169"} xref: MedDRA:10056450 {source="Orphanet:98851", source="ORDO:98851/e"} xref: MedDRA:10056450 {source="Orphanet:98851", source="Orphanet:98851/e"} xref: MESH:D007946 {source="Orphanet:98851", source="EFO:0007359", source="MONDO:equivalentTo", source="Orphanet:98851/e", source="DOID:9254"} xref: MESH:D007946 {source="Orphanet:98851", source="EFO:0007359", source="MONDO:equivalentTo", source="DOID:9254", source="ORDO:98851/e"} xref: MONDO:0020334 xref: NCIT:C3169 {source="MONDO:equivalentTo", source="DOID:9254"} xref: ONCOTREE:SMMCL {source="MONDO:equivalentTo"} xref: Orphanet:158799 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:158799 {source="MONDO:equivalentObsolete"} xref: Orphanet:98851 {source="MONDO:equivalentTo"} xref: SCTID:110002002 {source="MONDO:equivalentTo", source="DOID:9254"} xref: UMLS:C0023461 {source="Orphanet:98851", source="MONDO:equivalentTo", source="NCIT:C3169", source="DOID:9254", source="ORDO:98851/e"} xref: UMLS:C0023461 {source="Orphanet:98851", source="MONDO:equivalentTo", source="Orphanet:98851/e", source="NCIT:C3169", source="DOID:9254"} is_a: EFO:0000565 {source="DOID:9254", source="EFO:0007359", source="MESH:D007946", source="MESH:D007946/inferred", source="NCIT:C3169"} ! leukemia is_a: MONDO:0016586 {source="NCIT:C3169/inferred", source="ONCOTREE:SMMCL", source="Orphanet:98851"} ! systemic mastocytosis property_value: closeMatch http://identifiers.org/meddra/10056450 property_value: closeMatch http://identifiers.org/snomedct/128924002 property_value: closeMatch http://identifiers.org/snomedct/188755006 property_value: closeMatch http://identifiers.org/snomedct/70798001 property_value: exactMatch DOID:9254 property_value: exactMatch DOID:9254 property_value: exactMatch http://identifiers.org/meddra/10056450 property_value: exactMatch http://identifiers.org/mesh/D007946 property_value: exactMatch http://identifiers.org/mesh/D007946 property_value: exactMatch http://identifiers.org/snomedct/110002002 property_value: exactMatch http://identifiers.org/snomedct/110002002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023461 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023461 property_value: exactMatch NCIT:C3169 property_value: exactMatch NCIT:C3169 property_value: exactMatch Orphanet:98851 [Term] id: EFO:0007360 name: maxillary neoplasm def: "Cancer or tumors of the maxilla or upper jaw." [MESH:D008441] synonym: "bone of upper jaw neoplasm" EXACT [] synonym: "bone of upper jaw neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "bone of upper jaw tumor" EXACT [MONDO:patterns/neoplasm] synonym: "bone of upper jaw tumour" EXACT OMO:0003005 [] synonym: "maxillary cancer" RELATED [DOID:4618] synonym: "maxillary neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "maxillary neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "maxillary neoplasm" EXACT [DOID:4618] synonym: "neoplasm of bone of upper jaw" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of bone of upper jaw" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of bone of upper jaw" EXACT OMO:0003005 [] synonym: "upper jaw bone cancer" RELATED [DOID:4618] xref: DOID:4618 {source="MONDO:equivalentTo", source="EFO:0007360"} xref: EFO:0007360 {source="MONDO:equivalentTo"} xref: MESH:D008441 {source="MONDO:equivalentTo", source="EFO:0007360", source="DOID:4618"} xref: MONDO:0005841 xref: SCTID:126550004 {source="MONDO:equivalentTo", source="DOID:4618"} xref: UMLS:C0024954 {source="MONDO:equivalentTo", source="DOID:4618"} is_a: MONDO:0021580 ! neoplasm of jaw property_value: exactMatch DOID:4618 property_value: exactMatch DOID:4618 property_value: exactMatch http://identifiers.org/mesh/D008441 property_value: exactMatch http://identifiers.org/mesh/D008441 property_value: exactMatch http://identifiers.org/snomedct/126550004 property_value: exactMatch http://identifiers.org/snomedct/126550004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024954 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024954 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/neoplasm.yaml [Term] id: EFO:0007361 name: maxillary sinusitis def: "A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache." [] def: "An acute or chronic inflammatory process affecting the mucous membrane of the maxillary sinus." [NCIT:P378] synonym: "Maxillary Sinusitis" EXACT [] synonym: "maxillary sinusitis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:2051 {source="MONDO:equivalentTo", source="EFO:0007361"} xref: MedDRA:10056475 xref: MESH:D015523 {source="MONDO:equivalentTo", source="EFO:0007361", source="DOID:2051"} xref: MeSH:D015523 xref: MONDO:0005842 xref: NCIT:C34809 {source="MONDO:equivalentTo", source="DOID:2051"} xref: SCTID:88348008 {source="MONDO:equivalentTo", source="DOID:2051"} xref: UMLS:C0024959 {source="MONDO:equivalentTo", source="NCIT:C34809", source="DOID:2051"} is_a: EFO:0007486 {source="DOID:2051", source="EFO:0007361", source="MESH:D015523", source="MONDO:Redundant", source="NCIT:C34809"} ! sinusitis is_a: EFO:1001047 ! mouth disease is_a: MONDO:0023369 ! disorder of facial skeleton property_value: exactMatch DOID:2051 property_value: exactMatch http://identifiers.org/mesh/D015523 property_value: exactMatch http://identifiers.org/snomedct/88348008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024959 property_value: exactMatch NCIT:C34809 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007362 name: mediastinal cancer def: "A malignant neoplasm involving the mediastinum" [MONDO:DesignPattern] def: "A malignant neoplasm involving the mediastinum" [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of mediastinum" EXACT [MONDO:patterns/cancer, NCIT:C3549] synonym: "cancer of the mediastinum" EXACT [NCIT:C3549] synonym: "malignant mediastinal neoplasm" EXACT [NCIT:C3549] synonym: "malignant mediastinal tumor" EXACT [NCIT:C3549] synonym: "malignant mediastinal tumour" EXACT OMO:0003005 [] synonym: "malignant mediastinum neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of mediastinum" EXACT [MONDO:patterns/cancer, NCIT:C3549] synonym: "malignant neoplasm of the mediastinum" EXACT [NCIT:C3549] synonym: "malignant tumor of mediastinum" EXACT [NCIT:C3549] synonym: "malignant tumor of the mediastinum" EXACT [NCIT:C3549] synonym: "malignant tumour of mediastinum" EXACT OMO:0003005 [] synonym: "malignant tumour of the mediastinum" EXACT OMO:0003005 [] synonym: "mediastinal cancer" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "mediastinal cancer" EXACT [] {comment="preferred label from MONDO"} synonym: "mediastinal cancer" EXACT [NCIT:C3549] synonym: "mediastinal tumor" BROAD [DOID:5559, NCIT:C3221] synonym: "mediastinal tumour" BROAD OMO:0003005 [] synonym: "mediastinum cancer" EXACT [DOID:5559, MONDO:patterns/location] synonym: "tumor of mediastinum" BROAD [DOID:5559] synonym: "tumour of mediastinum" BROAD OMO:0003005 [] synonym: "tumour of mediastinum" BROAD [DOID:5559] xref: DOID:5559 {source="MONDO:equivalentTo", source="EFO:0007362"} xref: EFO:0007362 {source="MONDO:equivalentTo"} xref: ICD10:C38.3 {source="DOID:5559"} xref: ICD9:164.9 {source="DOID:5559", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:164.9 {source="DOID:5559", source="MONDO:equivalentTo", source="i2s"} xref: MESH:D008479 {source="DOID:5559", source="MONDO:equivalentTo", source="EFO:0007362"} xref: MONDO:0005843 xref: NCIT:C3549 {source="DOID:5559", source="MONDO:equivalentTo"} xref: SCTID:363494000 {source="DOID:5559", source="MONDO:equivalentTo"} is_a: MONDO:0003274 {source="DOID:5559", source="MONDO:Redundant", source="NCIT:C3549"} ! thoracic cancer is_a: MONDO:0021386 {source="MONDO:Redundant", source="NCIT:C3549"} ! neoplasm of mediastinum property_value: closeMatch http://identifiers.org/snomedct/187889002 property_value: closeMatch http://identifiers.org/snomedct/190097009 property_value: closeMatch http://identifiers.org/snomedct/93891008 property_value: closeMatch http://identifiers.org/snomedct/94147001 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0025063 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153504 property_value: exactMatch DOID:5559 property_value: exactMatch DOID:5559 property_value: exactMatch http://identifiers.org/mesh/D008479 property_value: exactMatch http://identifiers.org/mesh/D008479 property_value: exactMatch http://identifiers.org/snomedct/363494000 property_value: exactMatch http://identifiers.org/snomedct/363494000 property_value: exactMatch NCIT:C3549 property_value: exactMatch NCIT:C3549 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/cancer.yaml [Term] id: EFO:0007363 name: meibomian cyst def: "A blepharitis that is characterized as a cyst in the eyelid that is caused by inflammation of a blocked meibomian gland, usually on the upper eyelid." [] def: "An eyelid cyst caused by the blockage of a meibomian gland." [NCIT:C26717] synonym: "chalazia" RELATED [MESH:D017043] synonym: "Chalazion" EXACT [] synonym: "chalazion" EXACT [DOID:9903, ICD9CM:373.2, NCIT:C26717] synonym: "chalazion" EXACT [] {comment="preferred label from MONDO"} synonym: "cyst, Meibomian" RELATED [MESH:D017043] synonym: "Meibomian cyst" RELATED [MESH:D017043] synonym: "meibomian gland lipogranuloma" EXACT [DOID:9903] xref: DOID:9903 {source="MONDO:equivalentTo", source="EFO:0007363"} xref: ICD10CM:H00.1 {source="MONDO:equivalentTo", source="DOID:9903"} xref: ICD9:373.2 {source="MONDO:equivalentTo", source="DOID:9903", source="MONDO:i2s"} xref: MedDRA:10027134 xref: MESH:D017043 {source="MONDO:equivalentTo", source="DOID:9903", source="EFO:0007363"} xref: MeSH:D017043 xref: MONDO:0005844 xref: NCIT:C26717 {source="MONDO:equivalentTo", source="DOID:9903"} xref: SCTID:1482004 {source="MONDO:equivalentTo", source="DOID:9903"} xref: UMLS:C0007933 {source="MONDO:equivalentTo", source="DOID:9903", source="NCIT:C26717"} is_a: MONDO:0004917 ! internal hordeolum property_value: exactMatch DOID:9903 property_value: exactMatch http://identifiers.org/mesh/D017043 property_value: exactMatch http://identifiers.org/snomedct/1482004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007933 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H00.1 property_value: exactMatch NCIT:C26717 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007364 name: meningoencephalitis def: "A central nervous system disease that involves encephalitis which occurs along with meningitis." [] def: "Inflammation of the meninges and brain, generally secondary to an infectious cause. Pathogens may be bacterial, viral, fungal, or protozoan." [NCIT:P378] synonym: "Meningoencephalitis" EXACT [] synonym: "meningoencephalitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Meningoencephalitis (disorder)" EXACT [] xref: DOID:10554 {source="MONDO:equivalentTo", source="EFO:0007364"} xref: ICD10:G04 xref: MedDRA:10027282 xref: MESH:D008590 {source="DOID:10554", source="MONDO:equivalentTo", source="EFO:0007364"} xref: MeSH:D008590 xref: MONDO:0005845 xref: NCIT:C34813 {source="DOID:10554", source="MONDO:equivalentTo"} xref: SCTID:7125002 {source="DOID:10554", source="MONDO:equivalentTo"} xref: UMLS:C0025309 {source="DOID:10554", source="MONDO:equivalentTo", source="NCIT:C34813"} is_a: MONDO:0019956 {source="MESH:D008590", source="MONDO:Entailed"} ! encephalitis property_value: exactMatch DOID:10554 property_value: exactMatch http://identifiers.org/mesh/D008590 property_value: exactMatch http://identifiers.org/snomedct/7125002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025309 property_value: exactMatch NCIT:C34813 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007365 name: mesoblastic nephroma def: "A kidney cancer that is found in the kidney and is usually found before birth by ultrasound or within the first 3 months of life." [] def: "A solid, unencapsulated tumor of the kidney composed of spindle mesenchymal cells that resemble fibroblasts or muscle cells. The homogeneous mass typically extends into the renal parenchyma and replaces most of the kidney. In most cases, mesoblastic nephroma is benign and occurs in the fetus or newborn, and rarely in the older child or the adult." [MESH:D018201] synonym: "Mesoblastic Nephroma" EXACT [] synonym: "mesoblastic nephroma" EXACT [DOID:4772, NCIT:C3731] synonym: "mesoblastic nephroma" EXACT [] {comment="preferred label from MONDO"} synonym: "Mesoblastic nephroma (disorder)" EXACT [] synonym: "Mesoblastic nephroma (morphologic abnormality)" EXACT [] synonym: "mesoblastic nephroma (morphologic abnormality)" EXACT [DOID:4772] synonym: "Nephroma, Mesoblastic" EXACT [] xref: DOID:4772 {source="MONDO:equivalentObsolete"} xref: ICD9:236.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10070665 xref: MESH:D018201 {source="DOID:4772", source="MONDO:equivalentTo"} xref: MeSH:D018201 xref: MONDO:0003130 xref: SCTID:307604008 {source="DOID:4772", source="MONDO:equivalentTo"} xref: UMLS:C0206628 {source="DOID:4772", source="MONDO:equivalentTo"} is_a: MONDO:0002367 {source="DOID:4772", source="MESH:D018201"} ! kidney cancer property_value: exactMatch http://identifiers.org/mesh/D018201 property_value: exactMatch http://identifiers.org/snomedct/307604008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206628 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007366 name: microsporidiosis def: "A fungal infection caused by Microsporidia. It occurs in immunocompromised patients, causing diarrhea and wasting." [NCIT:P378] def: "An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members." [] subset: gard_rare {source="GARD:0003655"} subset: ordo_disease {source="Orphanet:2552"} synonym: "infection by Microspora" EXACT [DOID:4271] synonym: "Infection by Microspora (disorder)" EXACT [] synonym: "infection by Microsporea" EXACT [DOID:4271] synonym: "Infection by Microsporea (disorder)" EXACT [] synonym: "infection by Microsporida" EXACT [DOID:4271] synonym: "Infection by Microsporida (disorder)" EXACT [] synonym: "Microsporidia caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Microsporidia disease or disorder" EXACT [] synonym: "Microsporidia infection" EXACT [NCIT:C84891] synonym: "Microsporidia infectious disease" EXACT [] synonym: "Microsporidiasis" RELATED [GARD:0003655] synonym: "Microsporidiosis" EXACT [] synonym: "microsporidiosis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:4271 {source="MONDO:equivalentTo", source="EFO:0007366"} xref: ICD9:117.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10053982 {source="Orphanet:2552", source="Orphanet:2552/e"} xref: MESH:D016881 {source="Orphanet:2552", source="MONDO:equivalentTo", source="Orphanet:2552/e", source="DOID:4271", source="EFO:0007366"} xref: MeSH:D016881 xref: MONDO:0005846 xref: NCIT:C84891 {source="MONDO:equivalentTo", source="DOID:4271"} xref: Orphanet:2552 {source="MONDO:equivalentTo"} xref: SCTID:699676006 {source="MONDO:equivalentTo", source="DOID:4271"} xref: UMLS:C0085407 {source="Orphanet:2552", source="MONDO:equivalentTo", source="Orphanet:2552/e", source="DOID:4271", source="NCIT:C84891"} is_a: EFO:0001067 {source="Orphanet:2552"} ! parasitic infection is_a: MONDO:0002312 {source="DOID:4271"} ! opportunistic mycosis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare relationship: RO:0000056 EFO:0000544 ! participates_in infection property_value: closeMatch http://identifiers.org/meddra/10053982 property_value: exactMatch DOID:4271 property_value: exactMatch http://identifiers.org/mesh/D016881 property_value: exactMatch http://identifiers.org/snomedct/699676006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085407 property_value: exactMatch NCIT:C84891 property_value: exactMatch Orphanet:2552 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3655/microsporidiosis xsd:anyURI {source="GARD:0003655"} [Term] id: EFO:0007367 name: middle lobe syndrome def: "A lung disease that is defined as a recurrent or chronic collapse of the right middle lobe, right upper lobe or lingula of the lung. It is caused by endobronchial tumour, granulomatous infections, lymphadenopathy, foreign bodies, endobronchial silicotic nodules, inspissated mucus associated with cystic fibrosis or inflammation as a result of an infection." [] def: "Atelectasis of the right middle pulmonary lobe, with chronic pneumonitis. (Dorland, 27th ed)" [MESH:D008878] synonym: "Middle Lobe Syndrome" EXACT [] synonym: "middle lobe syndrome" EXACT [] {comment="preferred label from MONDO"} xref: DOID:2810 {source="EFO:0007367", source="MONDO:equivalentTo"} xref: MedDRA:10056652 xref: MESH:D008878 {source="EFO:0007367", source="MONDO:equivalentTo", source="DOID:2810"} xref: MeSH:D008878 xref: MONDO:0005847 xref: SCTID:28295001 {source="MONDO:equivalentTo", source="DOID:2810"} xref: UMLS:C0026069 {source="MONDO:equivalentTo", source="DOID:2810"} is_a: EFO:0003818 {source="DOID:2810", source="EFO:0007367", source="MESH:D008878/inferred"} ! lung disease property_value: exactMatch DOID:2810 property_value: exactMatch http://identifiers.org/mesh/D008878 property_value: exactMatch http://identifiers.org/snomedct/28295001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026069 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007368 name: miliary tuberculosis def: "An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs." [] def: "I would say the hematogenous widespread dissemination of tuberculosis in the body. The term derives from the chest X-ray image of the tiny (1-5 mm) tuberculosis lesions which are seen through out the lung parenchyma." [NCIT:P378] synonym: "acute miliary tuberculosis" EXACT [DOID:9861, ICD9CM:018.0] synonym: "disseminated tuberculosis" EXACT [DOID:9861] synonym: "Disseminated tuberculosis (disorder)" EXACT [] synonym: "generalised tuberculosis" EXACT OMO:0003005 [] synonym: "generalized tuberculosis" EXACT [DOID:9861] synonym: "miliary tuberculosis" EXACT [] {comment="preferred label from MONDO"} synonym: "tuberculosis miliaris disseminata" EXACT [DOID:9861] synonym: "Tuberculosis miliaris disseminata (disorder)" EXACT [] synonym: "Tuberculosis, Miliary" EXACT [] xref: DOID:9861 {source="EFO:0007368", source="MONDO:equivalentTo"} xref: ICD10:A19 xref: ICD10CM:A19 {source="MONDO:equivalentTo", source="DOID:9861"} xref: ICD9:018 {source="DOID:9861"} xref: ICD9:018.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:018.9 {source="DOID:9861"} xref: ICD9:018.90 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9861"} xref: MedDRA:10027630 xref: MedDRA:10027631 xref: MedDRA:10027632 xref: MESH:D014391 {source="EFO:0007368", source="MONDO:equivalentTo", source="DOID:9861"} xref: MeSH:D014391 xref: MONDO:0005848 xref: NCIT:C35086 {source="MONDO:equivalentTo", source="DOID:9861"} xref: SCTID:47604008 {source="MONDO:equivalentTo", source="DOID:9861"} xref: UMLS:C0041321 {source="NCIT:C35086", source="MONDO:equivalentTo", source="DOID:9861"} xref: UMLS:C0152915 {source="MONDO:equivalentTo"} is_a: MONDO:0000368 {source="DOID:9861"} ! extrapulmonary tuberculosis property_value: exactMatch DOID:9861 property_value: exactMatch http://identifiers.org/mesh/D014391 property_value: exactMatch http://identifiers.org/snomedct/47604008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041321 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152915 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A19 property_value: exactMatch NCIT:C35086 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007369 name: milk allergic reaction def: "A food allergy that results in adverse immune reaction to one or more of the proteins in cow's milk and/or the milk of other animals, which are normally harmless to the non-allergic individual." [] synonym: "Milk Hypersensitivity" EXACT [] xref: DOID:4376 xref: MeSH:D016269 is_a: EFO:1001890 ! food allergy property_value: IAO:0000117 "Gautier Koscielny" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007370 name: milker's nodule def: "A viral infectious disease that results_in infection of cattle and humans, located_in skin, has_material_basis_in Pseudocowpox virus, which is transmitted_by contact with the infected cow teats, or transmitted_by fomites. The infection results_in_formation_of lesions on the fingers, hands, and forearms and has_symptom fever, has_symptom lymphangitis, and has_symptom lymphadenopathy." [] def: "Virus diseases caused by the poxviridae." [MESH:D011213] synonym: "milker nodule" EXACT [DOID:8729] synonym: "milker's nodule" EXACT [] {comment="preferred label from MONDO"} synonym: "Milkers' node" EXACT [] synonym: "milkers' node" EXACT [DOID:8729] synonym: "Paravaccinia" EXACT [DOID:8729] synonym: "Paravaccinia NOS (disorder)" EXACT [] synonym: "Poxviridae Infections" EXACT [] synonym: "Pseudocowpox" RELATED [DOID:8729, ICD9CM:051.1] xref: DOID:8729 {source="MONDO:equivalentTo", source="EFO:0007370"} xref: ICD9:051.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8729"} xref: ICD9:051.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8729"} xref: MESH:D011213 {source="MONDO:equivalentTo", source="DOID:8729", source="EFO:0007370"} xref: MeSH:D011213 xref: MONDO:0005850 xref: SCTID:27240009 {source="MONDO:equivalentTo", source="DOID:8729"} xref: UMLS:C0026143 {source="MONDO:equivalentTo", source="DOID:8729"} is_a: EFO:0000763 {source="DOID:8729", source="EFO:0007370", source="MESH:D011213/inferred"} ! viral disease property_value: exactMatch DOID:8729 property_value: exactMatch http://identifiers.org/mesh/D011213 property_value: exactMatch http://identifiers.org/snomedct/27240009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026143 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007371 name: Miller Fisher syndrome def: "A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia." [] def: "An autoimmune process characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia." [NCIT:P378] subset: ordo_disease {source="Orphanet:98919"} synonym: "cranial variant of GBS" EXACT [Orphanet:98919] synonym: "cranial variant of Guillain-Barre syndrome" EXACT [Orphanet:98919] synonym: "cranial variant of Guillain-Barré syndrome" EXACT [Orphanet:98919] synonym: "Fisher syndrome" EXACT [MESH:D019846, Orphanet:98919] synonym: "Fisher's syndrome" EXACT [DOID:12889] synonym: "Fisher's syndrome (disorder)" EXACT [] synonym: "Guillain Barre syndrome, Miller Fisher variant" EXACT [MESH:D019846] synonym: "Guillain-Barre syndrome, Miller Fisher variant" EXACT [MESH:D019846] synonym: "Miller Fisher Syndrome" EXACT [] synonym: "Miller Fisher syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Miller Fisher variant of Guillain Barre syndrome" EXACT [MESH:D019846] synonym: "Miller-Fisher syndrome" EXACT [MESH:D019846, MONDO:0020350] synonym: "Miller-Fisher variant of Guillain-Barre syndrome" EXACT [DOID:12889] synonym: "ophthalmoplegia, ataxia and areflexia syndrome" EXACT [MESH:D019846] synonym: "syndrome, Fisher" EXACT [MESH:D019846] synonym: "syndrome, Miller Fisher" EXACT [MESH:D019846] synonym: "syndrome, Miller-Fisher" EXACT [MESH:D019846] xref: DOID:12889 {source="MONDO:equivalentTo", source="EFO:0007371"} xref: MedDRA:10049567 {source="Orphanet:98919/e", source="Orphanet:98919"} xref: MESH:D019846 {source="DOID:12889", source="Orphanet:98919/e", source="MONDO:equivalentTo", source="EFO:0007371", source="Orphanet:98919"} xref: MeSH:D019846 xref: MONDO:0005851 xref: NCIT:C116958 {source="DOID:12889", source="MONDO:equivalentTo"} xref: Orphanet:98919 {source="MONDO:equivalentTo"} xref: SCTID:1767005 {source="DOID:12889", source="MONDO:equivalentTo"} xref: UMLS:C0393799 {source="DOID:12889", source="Orphanet:98919/e", source="MONDO:equivalentTo", source="Orphanet:98919"} is_a: EFO:0020092 ! neuroinflammatory disorder is_a: MONDO:0002427 {source="MESH:D019846"} ! cerebellar disorder is_a: MONDO:0016494 {source="Orphanet:98919"} ! regional variant of Guillain-Barre syndrome property_value: closeMatch http://identifiers.org/meddra/10049567 property_value: exactMatch DOID:12889 property_value: exactMatch http://identifiers.org/mesh/D019846 property_value: exactMatch http://identifiers.org/snomedct/1767005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393799 property_value: exactMatch NCIT:C116958 property_value: exactMatch Orphanet:98919 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007372 name: mitral valve stenosis def: "A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart." [] def: "Narrowing of the left atrioventricular mitral orifice." [NCIT:P378] synonym: "mitral stenoses" RELATED [MESH:D008946] synonym: "Mitral stenosis" EXACT [] synonym: "mitral stenosis" EXACT [DOID:1754, MESH:D008946] synonym: "mitral valve stenoses" RELATED [MESH:D008946] synonym: "Mitral Valve Stenosis" EXACT [] synonym: "mitral valve stenosis" EXACT [] {comment="preferred label from MONDO"} synonym: "stenoses, mitral" RELATED [MESH:D008946] synonym: "stenoses, mitral valve" RELATED [MESH:D008946] synonym: "stenosis, mitral" RELATED [MESH:D008946] synonym: "stenosis, mitral valve" RELATED [MESH:D008946] synonym: "valve stenoses, mitral" RELATED [MESH:D008946] synonym: "valve stenosis, mitral" RELATED [MESH:D008946] xref: DOID:1754 {source="MONDO:equivalentTo", source="EFO:0007372"} xref: MedDRA:10027733 xref: MESH:D008946 {source="MONDO:equivalentTo", source="DOID:1754", source="EFO:0007372"} xref: MeSH:D008946 xref: MONDO:0005852 xref: NCIT:C50654 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:1754"} xref: SCTID:79619009 {source="MONDO:equivalentTo", source="DOID:1754"} xref: UMLS:C0026269 {source="MONDO:equivalentTo", source="DOID:1754"} is_a: EFO:0009557 {source="DOID:1754"} ! mitral valve disease property_value: exactMatch DOID:1754 property_value: exactMatch http://identifiers.org/mesh/D008946 property_value: exactMatch http://identifiers.org/snomedct/79619009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026269 property_value: exactMatch NCIT:C50654 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007373 name: mixed cell type cancer def: "A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from two germinal layers of tissue." [] synonym: "malignant mixed cancer" EXACT [] synonym: "malignant mixed neoplasm" EXACT [] synonym: "mixed tumor" EXACT [] synonym: "Mixed Tumor, Malignant" EXACT [] synonym: "mixed tumor, malignant (morphologic abnormality)" EXACT [] synonym: "mixed tumor, malignant, NOS (morphologic abnormality)" EXACT [] xref: DOID:154 xref: MeSH:D018198 is_a: EFO:0000313 ! carcinoma property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007374 name: mixed connective tissue disease def: "A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen." [] def: "Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresivedrugsmay help manage the symptoms." [https://rarediseases.info.nih.gov/diseases/7051/mixed-connective-tissue-disease] subset: gard_rare {source="GARD:0007051"} subset: ordo_disease {source="Orphanet:809"} synonym: "connective tissue disease overlap syndrome" EXACT [DOID:3492] synonym: "Connective tissue disease overlap syndrome (disorder)" EXACT [] synonym: "MCTD" EXACT ABBREVIATION [Orphanet:809] synonym: "mixed collagen vascular disease" EXACT [DOID:3492] synonym: "mixed collagen vascular disease (disorder)" EXACT [] synonym: "Mixed Connective Tissue Disease" EXACT [] synonym: "mixed connective tissue disease" EXACT [] {comment="preferred label from MONDO"} synonym: "sharp syndrome" EXACT [Orphanet:809] xref: DOID:3492 {source="MONDO:equivalentTo", source="EFO:0007374"} xref: MedDRA:10027754 {source="Orphanet:809/e", source="Orphanet:809"} xref: MESH:D008947 {source="Orphanet:809/e", source="MONDO:equivalentTo", source="DOID:3492", source="Orphanet:809", source="EFO:0007374"} xref: MeSH:D008947 xref: MONDO:0005854 xref: NCIT:C84892 {source="MONDO:equivalentTo", source="DOID:3492"} xref: Orphanet:809 {source="MONDO:equivalentTo"} xref: SCTID:398049005 {source="MONDO:equivalentTo", source="DOID:3492"} xref: UMLS:C0026272 {source="Orphanet:809/e", source="MONDO:equivalentTo", source="NCIT:C84892", source="DOID:3492", source="Orphanet:809"} is_a: EFO:0005755 {source="NCIT:C84892"} ! rheumatic disease is_a: MONDO:0016663 {source="Orphanet:809"} ! overlapping connective tissue disease relationship: EFO:0000784 UBERON:0002384 ! has_disease_location connective tissue property_value: closeMatch http://identifiers.org/meddra/10027754 property_value: exactMatch DOID:3492 property_value: exactMatch http://identifiers.org/mesh/D008947 property_value: exactMatch http://identifiers.org/snomedct/398049005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026272 property_value: exactMatch NCIT:C84892 property_value: exactMatch Orphanet:809 property_value: excluded_subClassOf MONDO:0005172 {source="EFO:0007374"} property_value: excluded_subClassOf MONDO:0019724 {source="Orphanet:809"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7051/mixed-connective-tissue-disease xsd:anyURI {source="GARD:0007051"} [Term] id: EFO:0007375 name: molluscum contagiosum def: "A common, benign, usually self-limited viral infection of the skin and occasionally the conjunctivae by a poxvirus (molluscum contagiosum virus). (Dorland, 27th ed)" [MESH:D008976] def: "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus, which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center." [] synonym: "Molluscum Contagiosum" EXACT [] synonym: "molluscum contagiosum" EXACT [] {comment="preferred label from MONDO"} xref: DOID:8867 {source="MONDO:equivalentTo", source="EFO:0007375"} xref: ICD10CM:B08.1 {source="DOID:8867", source="MONDO:equivalentTo"} xref: ICD9:078.0 {source="DOID:8867", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10027807 xref: MESH:D008976 {source="DOID:8867", source="MONDO:equivalentTo", source="EFO:0007375"} xref: MeSH:D008976 xref: MONDO:0005855 xref: SCTID:40070004 {source="DOID:8867", source="MONDO:equivalentTo"} xref: UMLS:C0026393 {source="DOID:8867", source="MONDO:equivalentTo"} is_a: EFO:0000763 {source="DOID:8867", source="EFO:0007375", source="MESH:D008976/inferred"} ! viral disease property_value: exactMatch DOID:8867 property_value: exactMatch http://identifiers.org/mesh/D008976 property_value: exactMatch http://identifiers.org/snomedct/40070004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026393 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B08.1 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007376 name: Mononegavirales infectious disease def: "A (-)ssRNA virus infectious disease that results_in infection in humans, has_material_basis_in Mononegavirales viruses." [] def: "Infections with viruses of the order mononegavirales. The concept includes filoviridae infections; paramyxoviridae infections; and rhabdoviridae infections." [MESH:D018701] synonym: "Mononegavirales caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Mononegavirales disease or disorder" EXACT [] synonym: "Mononegavirales Infections" EXACT [] synonym: "Mononegavirales infectious disease" EXACT [] {comment="preferred label from MONDO"} xref: DOID:1983 xref: MESH:D018701 {source="MONDO:equivalentTo", source="EFO:0007376"} xref: MeSH:D018701 xref: MONDO:0005856 xref: UMLS:C0242916 {source="MONDO:equivalentTo"} is_a: MONDO:0100329 ! primary viral infectious disease property_value: exactMatch http://identifiers.org/mesh/D018701 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242916 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007377 name: Morbillivirus infectious disease def: "A Paramyxoviridae infectious disease that results_in infection in dogs, seals, cattle and humans, has_material_basis_in Morbillivirus." [] def: "Infections with viruses of the genus morbillivirus, family paramyxoviridae. Infections mainly cause acute disease in their hosts, although in some cases infection is persistent and leads to degenerative conditions." [MESH:D018185] synonym: "Morbillivirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Morbillivirus disease or disorder" EXACT [] synonym: "Morbillivirus Infections" EXACT [] synonym: "Morbillivirus infectious disease" EXACT [] synonym: "morbillivirus infectious disease" EXACT [] {comment="preferred label from MONDO"} xref: DOID:3533 xref: MESH:D018185 {source="MONDO:equivalentTo", source="EFO:0007377"} xref: MeSH:D018185 xref: MONDO:0005857 xref: UMLS:C0206614 {source="MONDO:equivalentTo"} is_a: EFO:0007419 ! Paramyxoviridae infectious disease property_value: exactMatch http://identifiers.org/mesh/D018185 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206614 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007378 name: mucinous cystadenocarcinoma def: "An invasive adenocarcinoma characterized by cystic changes and the presence of malignant glandular cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung." [NCIT:C3776] synonym: "mucinous cystadenocarcinoma" EXACT [NCIT:C3776] synonym: "mucinous cystadenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "mucinous cystadenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "mucinous cystadenocarcinoma (morphologic abnormality)" EXACT [DOID:3603] synonym: "mucinous cystadenocarcinoma NOS (morphologic abnormality)" EXACT [DOID:3603] synonym: "Pseudomucinous adenocarcinoma" EXACT [NCIT:C3776] synonym: "Pseudomucinous cystadenocarcinoma" EXACT [DOID:3603, NCIT:C3776] xref: DOID:3603 {source="EFO:0007378", source="MONDO:equivalentTo"} xref: EFO:0007378 {source="MONDO:equivalentTo"} xref: ICDO:8470/3 {source="NCIT:C3776"} xref: MESH:D018282 {source="EFO:0007378", source="MONDO:equivalentTo", source="DOID:3603"} xref: MONDO:0005858 xref: NCIT:C3776 {source="MONDO:equivalentTo", source="DOID:3603", source="exact-label-match"} xref: NCIT:C3776 {source="MONDO:equivalentTo", source="DOID:3603", source="MONDO:exact-label-match"} xref: UMLS:C0206699 {source="MONDO:equivalentTo", source="DOID:3603", source="NCIT:C3776"} is_a: EFO:0000197 {source="NCIT:C3776"} ! mucinous carcinoma is_a: EFO:0006387 {source="DOID:3603", source="EFO:0007378", source="MESH:D018282", source="NCIT:C3776"} ! cystadenocarcinoma property_value: closeMatch http://identifiers.org/snomedct/189692006 property_value: closeMatch http://identifiers.org/snomedct/79143006 property_value: exactMatch DOID:3603 property_value: exactMatch DOID:3603 property_value: exactMatch http://identifiers.org/mesh/D018282 property_value: exactMatch http://identifiers.org/mesh/D018282 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206699 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206699 property_value: exactMatch NCIT:C3776 property_value: exactMatch NCIT:C3776 [Term] id: EFO:0007379 name: mucocutaneous Leishmaniasis def: "A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa." [] def: "The most common form of leishmaniasis that is transmitted through the bite of female phlebotomine sand flies or after exposure to leishmania parasites. It is characterized by skin lesions at the site of insect bite which typically develop within weeks or months after exposure. The lesions typically progress from small papules to open sores with raised borders and central ulcers which can be covered with scales or crust." [NCIT:C34769] synonym: "American Cutaneous Leishmaniasis" EXACT [] synonym: "American cutaneous leishmaniasis" EXACT [DOID:9155, NCIT:C34769] synonym: "American mucocutaneous leishmaniasis" EXACT [DOID:9155] synonym: "American mucocutaneous leishmaniasis (disorder)" EXACT [] synonym: "Cutaneous leishmaniasis, American" EXACT [] synonym: "cutaneous leishmaniasis, American" EXACT [DOID:9155, ICD9CM:085.4] synonym: "Leishmaniasis, Mucocutaneous" EXACT [] synonym: "mucocutaneous leishmaniasis" EXACT [] {comment="preferred label from MONDO"} synonym: "Mucocutaneous leishmaniasis, (American)" EXACT [] synonym: "mucocutaneous leishmaniasis, (American)" EXACT [DOID:9155, ICD9CM:085.5] synonym: "Mucocutaneous leishmaniasis, American" EXACT [] synonym: "mucocutaneous leishmaniasis, American" EXACT [DOID:9155] synonym: "New World cutaneous leishmaniasis" EXACT [DOID:9155] xref: DOID:9155 {source="EFO:0007379", source="MONDO:equivalentTo"} xref: ICD10CM:B55.2 {source="MONDO:equivalentTo", source="DOID:9155"} xref: ICD9:085.5 {source="DOID:9155"} xref: MedDRA:10028081 xref: MedDRA:10054165 xref: MESH:D007897 {source="EFO:0007379", source="MONDO:equivalentTo", source="DOID:9155"} xref: MeSH:D007897 xref: MONDO:0005859 xref: NCIT:C34769 {source="MONDO:equivalentTo"} xref: UMLS:C1328252 {source="MONDO:equivalentTo", source="DOID:9155"} xref: UMLS:C3495436 {source="MONDO:equivalentTo", source="NCIT:C34769"} is_a: EFO:0005044 {source="DOID:9155", source="EFO:0007379", source="ICD10CM:B55.2", source="MESH:D007897/inferred", source="NCIT:C34769/inferred"} ! Leishmaniasis property_value: exactMatch DOID:9155 property_value: exactMatch http://identifiers.org/mesh/D007897 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1328252 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3495436 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B55.2 property_value: exactMatch NCIT:C34769 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007380 name: mucormycosis def: "An opportunistic fungi incertae sedis mycosis that results_in fungal infection located_in sinuses, located_in brain, or located_in lungs of immunocompromised people, has_material_basis_in Mucorales molds." [] def: "Any infection due to a fungus of the Zygomycota phylum. The disease typically involves the rhino-facial-cranial area, lungs, gastrointestinal tract, skin, or less commonly other organ systems. The infecting fungi have a predilection for invading vessels of the arterial system, causing embolization and subsequent necrosis of surrounding tissue." [NCIT:C77212] subset: gard_rare {source="GARD:0010224"} subset: ordo_disease {source="Orphanet:73263"} synonym: "disseminated mucormycosis" EXACT [] synonym: "Mucormycosis" EXACT [] synonym: "mucormycosis" EXACT [Orphanet:73263] synonym: "Mucormycosis (disorder)" EXACT [] synonym: "Mucormycosis, unspecified" EXACT [] synonym: "Mucormycosis, unspecified (disorder)" EXACT [] synonym: "Phycomycosis or Mucormycosis" EXACT [] synonym: "Zygomycosis" EXACT [] {comment="preferred label from MONDO"} synonym: "zygomycosis" EXACT [] synonym: "Zygomycosis (disorder)" EXACT [] synonym: "Zygomycosis [Phycomycosis or Mucormycosis]" EXACT [] synonym: "Zygomycosis, unspecified (disorder)" EXACT [] synonym: "Zygomycota infectious disease" EXACT [] xref: DOID:50085 xref: DOID:8485 {source="EFO:0007380", source="MONDO:equivalentTo", source="MONDO:obsolete"} xref: ICD10CM:B46 {source="MONDO:equivalentTo"} xref: ICD9:117.7 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10028098 {source="Orphanet:73263/e", source="Orphanet:73263"} xref: MedDRA:10061418 {source="Orphanet:73263/e", source="Orphanet:73263"} xref: MESH:D009091 {source="MONDO:relatedTo", source="Orphanet:73263/e", source="EFO:0007380", source="Orphanet:73263"} xref: MeSH:D009091 xref: MESH:D020096 {source="Orphanet:73263/e", source="MONDO:equivalentTo", source="Orphanet:73263"} xref: MeSH:D020096 xref: MONDO:0019136 xref: NCIT:C77212 {source="MONDO:equivalentTo"} xref: Orphanet:73263 {source="MONDO:equivalentTo"} xref: SCTID:59277005 {source="MONDO:equivalentTo"} xref: SCTID:76627001 {source="MONDO:equivalentTo"} xref: UMLS:C0043541 {source="Orphanet:73263/e", source="MONDO:equivalentTo", source="NCIT:C77212", source="Orphanet:73263"} is_a: MONDO:0002312 ! opportunistic mycosis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015578"} ! rare property_value: closeMatch http://identifiers.org/meddra/10028098 property_value: closeMatch http://identifiers.org/meddra/10061418 property_value: exactMatch DOID:8485 property_value: exactMatch http://identifiers.org/mesh/D020096 property_value: exactMatch http://identifiers.org/snomedct/59277005 property_value: exactMatch http://identifiers.org/snomedct/76627001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043541 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B46 property_value: exactMatch NCIT:C77212 property_value: exactMatch Orphanet:73263 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: relatedMatch http://identifiers.org/mesh/D009091 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10224/zygomycosis xsd:anyURI {source="GARD:0010224"} [Term] id: EFO:0007381 name: multidrug-resistant tuberculosis def: "A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs." [] def: "A type of drug-resistant tuberculosis that is resistant to both rifampicin and isoniazid, the two most powerful anti-TB drugs." [https://orcid.org/0000-0002-6670-9157, PMID:25918181] synonym: "MDR-TB" EXACT [NCIT:C128415] synonym: "multidrug-resistant TB" EXACT [NCIT:C128415] synonym: "multidrug-resistant tuberculosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Tuberculosis, Multidrug-Resistant" EXACT [] xref: DOID:401 {source="MONDO:equivalentTo", source="EFO:0007381"} xref: MESH:D018088 {source="DOID:401", source="MONDO:equivalentTo", source="EFO:0007381"} xref: MeSH:D018088 xref: MONDO:0005861 xref: NCIT:C128415 {source="MONDO:equivalentTo"} xref: SCTID:423092005 {source="DOID:401", source="MONDO:equivalentTo"} xref: UMLS:C0206526 {source="DOID:401", source="MONDO:equivalentTo", source="NCIT:C128415"} is_a: MONDO:0041806 {source="https://orcid.org/0000-0001-5208-3432"} ! drug-resistant tuberculosis property_value: exactMatch DOID:401 property_value: exactMatch http://identifiers.org/mesh/D018088 property_value: exactMatch http://identifiers.org/snomedct/423092005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206526 property_value: exactMatch NCIT:C128415 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007382 name: multiple chemical sensitivity def: "A syndrome that is an adverse physical reaction to low levels of many common chemicals." [] synonym: "20th century disease" EXACT [] synonym: "chemical AIDS" EXACT [] synonym: "environmental illness" EXACT [] synonym: "idiopathic environmental illness" EXACT [] synonym: "Multiple Chemical Sensitivity" EXACT [] synonym: "total allergy syndrome" EXACT [] xref: DOID:4661 xref: MedDRA:10057865 xref: MeSH:D018777 is_a: EFO:0000540 ! immune system disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007383 name: Mumps virus infectious disease alt_id: MONDO:0005863 def: "A contagious viral infection caused by the mumps virus. Symptoms include swollen and tender parotid glands, fever, muscle aches and fatigue. Due to vaccination programs, mumps has become a rare disease." [NCIT:C29888] def: "A viral infectious disease that results_in infection in humans, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person." [] subset: gard_rare {source="GARD:0007116"} synonym: "epidemic parotitis" EXACT [NCIT:C29888] synonym: "mumps" EXACT [NCIT:C29888] synonym: "mumps infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Mumps virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Mumps virus disease or disorder" EXACT [] synonym: "Mumps virus infectious disease" EXACT [] synonym: "mumps virus infectious disease" RELATED [] synonym: "Rubulavirus Infections" EXACT [] synonym: "Rubulavirus infectious disease" EXACT [] xref: DOID:10264 {source="MONDO:equivalentTo"} xref: DOID:10304 xref: ICD10CM:B26 {source="MONDO:equivalentTo", source="DOID:10264"} xref: ICD9:072 {source="DOID:10264"} xref: MESH:D009107 {source="MONDO:equivalentTo", source="DOID:10264"} xref: MESH:D019351 {source="MONDO:equivalentTo", source="EFO:0007383"} xref: MeSH:D019351 xref: MONDO:0000989 xref: NCIT:C29888 {source="MONDO:equivalentTo", source="DOID:10264"} xref: SCTID:36989005 {source="MONDO:equivalentTo", source="DOID:10264"} xref: UMLS:C0026780 {source="MONDO:equivalentTo", source="NCIT:C29888", source="DOID:10264"} is_a: EFO:0007419 ! Paramyxoviridae infectious disease property_value: exactMatch DOID:10264 property_value: exactMatch http://identifiers.org/mesh/D009107 property_value: exactMatch http://identifiers.org/mesh/D019351 property_value: exactMatch http://identifiers.org/snomedct/36989005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026780 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B26 property_value: exactMatch NCIT:C29888 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7116/mumps xsd:anyURI {source="GARD:0007116"} [Term] id: EFO:0007384 name: muscle cancer def: "A malignant neoplasm affecting the skeletal or smooth muscles. Malignant neoplasms arising from the skeletal muscles are called rhabdomyosarcomas. Malignant neoplasms arising from the smooth muscles are called leiomyosarcomas." [NCIT:P378] synonym: "cancer of muscle structure" EXACT [MONDO:patterns/cancer] synonym: "malignant muscle neoplasm" EXACT [NCIT:C4883] synonym: "malignant muscle structure neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant muscle tumor" EXACT [NCIT:C4883] synonym: "malignant muscle tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of muscle" EXACT [DOID:4045, NCIT:C4883] synonym: "malignant neoplasm of muscle structure" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the muscle" EXACT [NCIT:C4883] synonym: "malignant tumor of muscle" EXACT [DOID:4045, NCIT:C4883] synonym: "malignant tumor of the muscle" EXACT [DOID:4045, NCIT:C4883] synonym: "malignant tumour of muscle" EXACT OMO:0003005 [] synonym: "malignant tumour of the muscle" EXACT OMO:0003005 [] synonym: "muscle cancer" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "muscle cancer" EXACT [] {comment="preferred label from MONDO"} synonym: "muscle structure cancer" EXACT [MONDO:patterns/location] synonym: "myosarcoma" EXACT [DOID:4045, NCIT:C4883] xref: DOID:4045 {source="MONDO:equivalentTo", source="EFO:0007384"} xref: EFO:0007384 {source="MONDO:equivalentTo"} xref: ICD10:C49 {source="DOID:4045"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:8895/3 {source="NCIT:C4883"} xref: MONDO:0005864 xref: NCIT:C4883 {source="DOID:4045", source="MONDO:equivalentTo"} xref: SCTID:363495004 {source="DOID:4045", source="MONDO:equivalentTo"} xref: UMLS:C0027095 {source="DOID:4045", source="MONDO:equivalentTo"} xref: UMLS:C0684743 {source="DOID:4045", source="MONDO:equivalentTo", source="NCIT:C4883"} is_a: MONDO:0000637 {source="DOID:4045"} ! musculoskeletal system cancer property_value: closeMatch http://identifiers.org/mesh/D009217 property_value: closeMatch http://identifiers.org/snomedct/20667008 property_value: closeMatch http://identifiers.org/snomedct/93913006 property_value: exactMatch DOID:4045 property_value: exactMatch DOID:4045 property_value: exactMatch http://identifiers.org/snomedct/363495004 property_value: exactMatch http://identifiers.org/snomedct/363495004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027095 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027095 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0684743 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0684743 property_value: exactMatch NCIT:C4883 property_value: exactMatch NCIT:C4883 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/cancer.yaml [Term] id: EFO:0007385 name: mushroom workers' lung def: "An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes." [DOID:2708, http://www.ncbi.nlm.nih.gov/pmc/articles/PMC470139/pdf/thorax00134-0122.pdf] synonym: "bunashimeji worker's lung" NARROW [https://orcid.org/0000-0001-5208-3432] synonym: "Farmer's Lung" EXACT [] synonym: "mushroom workers lung" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "mushroom workers' lung" EXACT [] {comment="preferred label from MONDO"} synonym: "Mushroom workers' lung (disorder)" EXACT [] synonym: "pholiota worker's lung" NARROW [https://orcid.org/0000-0001-5208-3432] synonym: "pleurotus worker's lung" NARROW [https://orcid.org/0000-0001-5208-3432] synonym: "shiitaki worker's lung" NARROW [https://orcid.org/0000-0001-5208-3432] synonym: "shimeji worker's lung" NARROW [https://orcid.org/0000-0001-5208-3432] xref: DOID:2708 {source="MONDO:equivalentTo", source="EFO:0007385"} xref: ICD9:495.5 {source="DOID:2708", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10028397 xref: MeSH:D005203 xref: MONDO:0005865 xref: SCTID:52333004 {source="DOID:2708", source="MONDO:equivalentTo"} xref: UMLS:C0155889 {source="DOID:2708", source="MONDO:equivalentTo"} is_a: MONDO:0017853 {source="DOID:2708"} ! hypersensitivity pneumonitis property_value: exactMatch DOID:2708 property_value: exactMatch http://identifiers.org/snomedct/52333004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155889 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007386 name: Mycobacterium avium complex disease def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons." [] def: "An infection that is caused by Mycobacterium avium." [NCIT:P378] subset: gard_rare synonym: "disseminated infection with mycobacterium avium complex" RELATED [GARD:0009236] synonym: "DMAC" RELATED ABBREVIATION [GARD:0009236] synonym: "Infection due to Mycobacterium intracellulare" EXACT [] synonym: "infection due to Mycobacterium intracellulare" EXACT [DOID:2755] synonym: "Infection due to Mycobacterium intracellulare (disorder)" EXACT [] synonym: "MAC disease" EXACT [DOID:2755] synonym: "Mycobacterium avium Complex" EXACT [DOID:2755] synonym: "Mycobacterium avium complex caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "mycobacterium avium complex disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Mycobacterium avium complex disease or disorder" EXACT [] synonym: "Mycobacterium avium complex infectious disease" EXACT [] synonym: "Mycobacterium Avium Infection" EXACT [] synonym: "Mycobacterium avium infection" EXACT [DOID:2755, NCIT:C36197] synonym: "Mycobacterium avium-intracellulare Infection" EXACT [] xref: DOID:2755 {source="MONDO:equivalentTo", source="EFO:0007386"} xref: ICD9:031.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D015270 {source="MONDO:equivalentTo", source="DOID:2755", source="EFO:0007386"} xref: MeSH:D015270 xref: MONDO:0005866 xref: NCIT:C36197 {source="MONDO:equivalentTo", source="DOID:2755"} xref: SCTID:373436002 {source="MONDO:equivalentTo", source="DOID:2755"} xref: UMLS:C0026916 {source="NCIT:C36197", source="MONDO:equivalentTo", source="DOID:2755"} is_a: MONDO:0000314 {source="DOID:2755"} ! primary bacterial infectious disease is_a: MONDO:0020590 ! mycobacterial infectious disease is_a: MONDO:0100120 ! vector-borne disease property_value: exactMatch DOID:2755 property_value: exactMatch http://identifiers.org/mesh/D015270 property_value: exactMatch http://identifiers.org/snomedct/373436002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026916 property_value: exactMatch NCIT:C36197 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9236/disseminated-infection-with-mycobacterium-avium-complex xsd:anyURI {source="GARD:0009236"} [Term] id: EFO:0007387 name: Mycoplasma pneumoniae pneumonia def: "A mycoplasmal pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat." [] def: "Interstitial pneumonia caused by extensive infection of the lungs (lung) and bronchi, particularly the lower lobes of the lungs, by mycoplasma pneumoniae in humans. In sheep, it is caused by mycoplasma ovipneumoniae. In cattle, it may be caused by mycoplasma dispar." [MESH:D011019] synonym: "cold agglutinin positive pneumonia" EXACT [] synonym: "Mycoplasma pneumonia" EXACT [DOID:13276] synonym: "Mycoplasma pneumoniae pneumonia" EXACT [] {comment="preferred label from MONDO"} synonym: "Mycoplasmal pneumonia" EXACT [] synonym: "Pneumonia due to Eaton's agent" EXACT [] synonym: "pneumonia due to Eaton's agent" EXACT [] synonym: "Pneumonia due to Mycoplasma pneumoniae" EXACT [] synonym: "pneumonia due to Mycoplasma pneumoniae" EXACT [ICD9CM:483.0] synonym: "Pneumonia due to Mycoplasma pneumoniae (disorder)" EXACT [] synonym: "pneumonia due to Mycoplasma pneumoniae (disorder)" EXACT [] synonym: "Pneumonia, Mycoplasma" EXACT [] xref: DOID:13276 {source="MONDO:equivalentTo", source="MONDO:obsolete", source="EFO:0007387"} xref: ICD9:483.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13276"} xref: MedDRA:10028472 xref: MESH:D011019 {source="MONDO:equivalentTo", source="DOID:13276", source="EFO:0007387"} xref: MeSH:D011019 xref: MONDO:0005867 xref: NCIT:C122526 {source="MONDO:equivalentTo"} xref: SCTID:46970008 {source="MONDO:equivalentTo"} is_a: EFO:1001272 {source="DOID:13276", source="MESH:D011019", source="NCIT:C122526"} ! bacterial pneumonia property_value: exactMatch DOID:13276 property_value: exactMatch http://identifiers.org/mesh/D011019 property_value: exactMatch http://identifiers.org/snomedct/46970008 property_value: exactMatch NCIT:C122526 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007388 name: myelophthisic anemia def: "A laboratory test result indicating an abnormal amount of circulating nucleated red blood cells and immature red blood cells." [NCIT:P378] def: "A myeloma and anemia that is located_in some people with diseases that affect the bone marrow." [] synonym: "anaemia LEUKOERYTHROBLASTIC" EXACT OMO:0003005 [] synonym: "ANEMIA LEUKOERYTHROBLASTIC" EXACT [] synonym: "anemia LEUKOERYTHROBLASTIC" EXACT [DOID:2354, MTH:NOCODE] synonym: "Anemia, leukoerythroblastic" EXACT [] synonym: "anemia, leukoerythroblastic" EXACT [DOID:2354] synonym: "Anemia, Myelophthisic" EXACT [] synonym: "leukoerythroblastic reaction" EXACT [NCIT:C36218] synonym: "Leukoerythroblastosis" EXACT [] synonym: "leukoerythroblastosis" EXACT [DOID:2354, NCIT:C36218] synonym: "myelophthisic anemia" EXACT [] {comment="preferred label from MONDO"} synonym: "Myelophthisic anemia (disorder)" EXACT [] synonym: "myelophthisis" RELATED [DOID:2354] xref: DOID:2354 {source="MONDO:equivalentTo", source="EFO:0007388"} xref: ICD10CM:D61.82 {source="DOID:2354", source="MONDO:equivalentTo"} xref: ICD9:285.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D000750 {source="DOID:2354", source="MONDO:equivalentTo", source="EFO:0007388"} xref: MeSH:D000750 xref: MONDO:0005868 xref: NCIT:C36218 {source="DOID:2354", source="MONDO:equivalentTo", source="MONDO:otherHierarchy"} xref: SCTID:2694001 {source="DOID:2354", source="MONDO:equivalentTo"} xref: UMLS:C0002890 {source="DOID:2354", source="MONDO:equivalentTo"} is_a: MONDO:0012197 {source="DOID:2354"} ! idiopathic aplastic anemia property_value: exactMatch DOID:2354 property_value: exactMatch http://identifiers.org/mesh/D000750 property_value: exactMatch http://identifiers.org/snomedct/2694001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002890 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D61.82 property_value: exactMatch NCIT:C36218 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007389 name: myiasis def: "A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue." [] def: "The infection of a fly larva (maggot) in human tissue, which most commonly occurs in tropical climates. Affected tissues most commonly include skin, especially if open wounds are present, nasal passages, ears, and eyes." [NCIT:C128400] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:75110"} synonym: "infestation by fly larvae" EXACT [DOID:11080] synonym: "Infestation by fly larvae (disorder)" EXACT [] synonym: "Infestation by maggots" EXACT [] synonym: "infestation by maggots" EXACT [DOID:11080] synonym: "Maggot infestation" EXACT [] synonym: "maggot infestation" EXACT [DOID:11080] synonym: "Myiasis" EXACT [] synonym: "myiasis" EXACT [] {comment="preferred label from MONDO"} synonym: "Myiasis, unspecified" EXACT [] synonym: "myiasis, unspecified" EXACT [DOID:11080] synonym: "Myiasis, unspecified (disorder)" EXACT [] xref: DOID:11080 {source="EFO:0007389", source="MONDO:equivalentTo"} xref: ICD10:B87 xref: ICD9:134.0 {source="DOID:11080", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10028586 {source="Orphanet:75110/e", source="Orphanet:75110"} xref: MESH:D009198 {source="EFO:0007389", source="DOID:11080", source="Orphanet:75110/e", source="MONDO:equivalentTo", source="Orphanet:75110"} xref: MeSH:D009198 xref: MONDO:0019147 xref: NCIT:C128400 {source="MONDO:equivalentTo"} xref: Orphanet:75110 {source="MONDO:equivalentTo"} xref: SCTID:60412004 {source="DOID:11080", source="MONDO:equivalentTo"} xref: UMLS:C0027030 {source="DOID:11080", source="NCIT:C128400", source="Orphanet:75110/e", source="MONDO:equivalentTo", source="Orphanet:75110"} is_a: MONDO:0002875 {source="DOID:11080", source="MESH:D009198"} ! parasitic ectoparasitic infectious disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare property_value: closeMatch http://identifiers.org/meddra/10028586 property_value: exactMatch DOID:11080 property_value: exactMatch http://identifiers.org/mesh/D009198 property_value: exactMatch http://identifiers.org/snomedct/60412004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027030 property_value: exactMatch NCIT:C128400 property_value: exactMatch Orphanet:75110 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007390 name: necatoriasis def: "A disorder caused by an infection with hookworms of the genus Necator, which settle in the host's small intestine, and cause abdominal pain, diarrhea, weight loss, and anemia." [NCIT:P378] def: "A parasitic helminthiasis infectious disease that involves infection of the small intestine of humans, dogs and cats by the nematode Necator americanus causing abdominal pain, diarrhea, cramps, weight loss and anemia. Cutaneous larvae migrans in humans is characterized by skin ruptures and severe itching." [] synonym: "Necatoriasis" EXACT [] synonym: "necatoriasis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:2790 {source="MONDO:equivalentTo", source="EFO:0007390"} xref: ICD10CM:B76.1 {source="MONDO:equivalentTo", source="DOID:2790"} xref: ICD9:126.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D009332 {source="MONDO:equivalentTo", source="EFO:0007390", source="DOID:2790"} xref: MeSH:D009332 xref: MONDO:0005870 xref: NCIT:C34838 {source="MONDO:equivalentTo", source="DOID:2790"} xref: SCTID:36667009 {source="MONDO:equivalentTo", source="DOID:2790"} xref: UMLS:C0027528 {source="NCIT:C34838", source="MONDO:equivalentTo", source="DOID:2790"} is_a: EFO:0010282 ! gastrointestinal disease is_a: EFO:1001342 {source="DOID:2790", source="ICD10CM:B76.1/inferred", source="MESH:D009332/inferred"} ! Helminthiasis property_value: exactMatch DOID:2790 property_value: exactMatch http://identifiers.org/mesh/D009332 property_value: exactMatch http://identifiers.org/snomedct/36667009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027528 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B76.1 property_value: exactMatch NCIT:C34838 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007391 name: Nematoda infectious disease alt_id: MONDO:0021556 def: "A parasitic helminthiasis infectious disease that involves infection by parasitic roundworms including ascarids, filarids, hookworms, pinworms, and whipworms." [] def: "Infections caused by nematode larvae which never develop into the adult stage and migrate through various body tissues. They commonly infect the skin, eyes, and viscera in humans. Ancylostoma brasiliensis causes cutaneous larva migrans. Toxocara causes visceral larva migrans." [MESH:D007815] synonym: "creeping eruption" EXACT [] synonym: "Disease due to Nematoda" RELATED [UMLS:C0027583] synonym: "disease due to nematoda" EXACT [] synonym: "Infection, Nematode" RELATED [MESH:D009349] synonym: "Infections, Nematode" RELATED [MESH:D009349] synonym: "Larva Migrans" EXACT [] synonym: "larva migrans" EXACT [] synonym: "Nematoda caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Nematoda disease or disorder" EXACT [] synonym: "Nematoda infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Nematode Infection" RELATED [MESH:D009349] synonym: "Nematode infection" EXACT [] synonym: "Nematode infection" RELATED [UMLS:C0027583] synonym: "nematode infection" RELATED [] synonym: "Nematode Infections" RELATED [MESH:D009349] synonym: "Nematodiasis" RELATED [UMLS:C0027583] synonym: "nematodiasis" RELATED [] synonym: "Roundworm" EXACT [] synonym: "Roundworm infection" EXACT [] xref: DOID:3106 xref: MESH:D007815 {source="MONDO:relatedTo", source="EFO:0007391"} xref: MeSH:D007815 xref: MESH:D009349 {source="UMLS:C0027583", source="MONDO:equivalentTo"} xref: MONDO:0005871 xref: SCTID:84706005 {source="UMLS:C0027583", source="MONDO:equivalentTo"} xref: UMLS:C0027583 {source="MONDO:equivalentTo"} is_a: EFO:1001342 {source="MESH:D009349"} ! Helminthiasis property_value: exactMatch http://identifiers.org/mesh/D009349 property_value: exactMatch http://identifiers.org/snomedct/84706005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027583 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007392 name: nervous system cancer def: "A primary or metastatic malignant neoplasm involving the nervous system." [NCIT:C4788] synonym: "cancer of nervous system" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of nervous system" EXACT [DOID:3093, MONDO:patterns/cancer, NCIT:C4788] synonym: "malignant neoplasm of the nervous system" EXACT [NCIT:C4788] synonym: "malignant nervous system neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4788] synonym: "malignant nervous system tumor" EXACT [NCIT:C4788] synonym: "malignant nervous system tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of nervous system" EXACT [NCIT:C4788] synonym: "malignant tumor of the nervous system" EXACT [NCIT:C4788] synonym: "malignant tumour of nervous system" EXACT OMO:0003005 [] synonym: "malignant tumour of the nervous system" EXACT OMO:0003005 [] synonym: "nervous system cancer" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "nervous system cancer" EXACT [MONDO:patterns/location] synonym: "nervous system cancer" EXACT [] {comment="preferred label from MONDO"} synonym: "nervous system neoplasm" BROAD [DOID:3093] synonym: "nervous system neoplasm" EXACT [CSP2005:2012-5157, DOID:3093] synonym: "nervous system neoplasms, malignant" EXACT [NCIT:C4788] synonym: "neural neoplasm" BROAD [DOID:3093] synonym: "neural neoplasm" EXACT [DOID:3093] synonym: "neural tumor" BROAD [DOID:3093] synonym: "neural tumor" EXACT [DOID:3093] synonym: "neural tumour" BROAD OMO:0003005 [] synonym: "tumor of the nervous system" BROAD [DOID:3093, NCIT:C3268] synonym: "tumor of the nervous system" EXACT [DOID:3093, NCIT:C3268] synonym: "tumour of the nervous system" BROAD OMO:0003005 [] xref: DOID:3093 {source="MONDO:equivalentTo", source="EFO:0007392"} xref: EFO:0007392 {source="MONDO:equivalentTo"} xref: ICD9:192 {source="DOID:3093"} xref: ICD9:192.8 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:192.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:192.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:3093"} xref: ICD9:192.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:3093"} xref: MESH:D009423 {source="MONDO:equivalentTo"} xref: MONDO:0005872 xref: NCIT:C4788 {source="MONDO:equivalentTo"} xref: SCTID:372063002 {source="MONDO:equivalentTo"} is_a: MONDO:0004992 {source="DOID:3093", source="DOID:3093/inferred", source="EFO:0007392/inferred", source="MONDO:Redundant"} ! cancer is_a: MONDO:0021248 {source="MONDO:Redundant", source="NCIT:C4788"} ! nervous system neoplasm property_value: closeMatch http://identifiers.org/mesh/D009380 property_value: closeMatch http://identifiers.org/snomedct/188306000 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0027665 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153643 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0497549 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1334956 property_value: closeMatch NCIT:C35562 property_value: exactMatch DOID:3093 property_value: exactMatch DOID:3093 property_value: exactMatch http://identifiers.org/mesh/D009423 property_value: exactMatch http://identifiers.org/mesh/D009423 property_value: exactMatch http://identifiers.org/snomedct/372063002 property_value: exactMatch http://identifiers.org/snomedct/372063002 property_value: exactMatch NCIT:C4788 property_value: exactMatch NCIT:C4788 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/cancer.yaml [Term] id: EFO:0007393 name: neuroaspergillosis def: "An aspergillosis that involves fungal infection of the central nervous system in immunocompromised patients caused by Aspergillus, presenting as a space-occupying lesion." [] def: "Infections of the nervous system caused by fungi of the genus aspergillus, most commonly aspergillus fumigatus. Aspergillus infections may occur in immunocompetent hosts, but are more prevalent in individuals with immunologic deficiency syndromes. The organism may spread to the nervous system from focal infections in the lung, mastoid region, sinuses, inner ear, bones, eyes, gastrointestinal tract, and heart. Sinus infections may be locally invasive and enter the intracranial compartment, producing meningitis, fungal; cranial neuropathies; and abscesses in the frontal lobes of the brain. (From Joynt, Clinical Neurology, 1998, Ch 27, pp62-3)" [MESH:D020953] synonym: "Neuroaspergillosis" EXACT [] synonym: "neuroaspergillosis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:13565 {source="MONDO:equivalentTo", source="EFO:0007393"} xref: MESH:D020953 {source="MONDO:equivalentTo", source="EFO:0007393", source="DOID:13565"} xref: MeSH:D020953 xref: MONDO:0005873 xref: UMLS:C0752342 {source="MONDO:equivalentTo", source="DOID:13565"} is_a: EFO:0007157 {source="DOID:13565", source="MESH:D020953"} ! aspergillosis is_a: EFO:0009386 ! central nervous system disease property_value: exactMatch DOID:13565 property_value: exactMatch http://identifiers.org/mesh/D020953 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0752342 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007394 name: neuroschistosomiasis def: "A schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure." [] def: "Schistosomiasis of the brain, spinal cord, or meninges caused by infections with trematodes of the genus schistosoma (primarily schistosoma japonicum; schistosoma mansoni; and schistosoma haematobium in humans). S. japonicum infections of the nervous system may cause an acute meningoencephalitis or a chronic encephalopathy. S. mansoni and S. haematobium nervous system infections are associated with acute transverse myelitis involving the lower portions of the spinal cord. (From Joynt, Clinical Neurology, 1998, Ch27, pp61-2)" [MESH:D020818] synonym: "Neuroschistosomiasis" EXACT [] synonym: "neuroschistosomiasis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:13722 {source="MONDO:equivalentTo", source="EFO:0007394"} xref: MESH:D020818 {source="DOID:13722", source="MONDO:equivalentTo", source="EFO:0007394"} xref: MeSH:D020818 xref: MONDO:0005874 xref: UMLS:C0752191 {source="DOID:13722", source="MONDO:equivalentTo"} is_a: EFO:1001456 ! central nervous system infection is_a: EFO:1001475 {source="DOID:13722", source="MESH:D020818", source="MONDO:Redundant"} ! schistosomiasis property_value: exactMatch DOID:13722 property_value: exactMatch http://identifiers.org/mesh/D020818 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0752191 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007395 name: Newcastle disease def: "A condition caused by infection by the Newcastle disease virus, which may be characterized by conjunctivitis, respiratory illness, and diarrhea." [NCIT:P378] def: "Newcastle disease is a contagious bird disease affecting many domestic and wild avian species; it is transmissible to humans. It was first identified in Java, Indonesia, in 1926, and in 1927, in Newcastle-upon-Tyne, England (whence it got its name). However, it may have been prevalent as early as 1898, when a disease wiped out all the domestic fowl in northwest Scotland. Its effects are most notable in domestic poultry due to their high susceptibility and the potential for severe impacts of an epizootic on the poultry industries. It is endemic to many countries." [] comment: A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Newcastle disease virus, which is transmitted_by contact with feces and urine of an infected bird, or transmitted_by fomites. The infection has_symptom conjunctivitis, has_symptom headache, and has_symptom lacrimation in humans, and has_symptom gasping, has_symptom coughing, has_symptom twisting of head and neck, has_symptom circling, has_symptom complete paralysis, has_symptom watery diarrhea, and has_symptom reduced egg production in birds. synonym: "Newcastle Disease" EXACT [] synonym: "Newcastle disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Newcastle disease (disorder)" EXACT [] synonym: "Newcastle disease [Ambiguous]" EXACT [] synonym: "Newcastle's disease" EXACT [DOID:2929] synonym: "Pseudo-fowlpest" EXACT [] synonym: "pseudo-fowlpest" EXACT [DOID:2929] xref: DOID:2929 {source="MONDO:equivalentTo", source="EFO:0007395"} xref: MedDRA:10029393 xref: MESH:D009521 {source="DOID:2929", source="MONDO:equivalentTo", source="EFO:0007395"} xref: MeSH:D009521 xref: MONDO:0005875 xref: NCIT:C34849 {source="DOID:2929", source="MONDO:equivalentTo"} xref: UMLS:C0027983 {source="DOID:2929", source="NCIT:C34849", source="MONDO:equivalentTo"} xref: Wikipedia:Newcastle_disease is_a: EFO:0000763 {source="DOID:2929", source="EFO:0007395", source="MESH:D009521/inferred", source="NCIT:C34849"} ! viral disease property_value: exactMatch DOID:2929 property_value: exactMatch http://identifiers.org/mesh/D009521 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027983 property_value: exactMatch NCIT:C34849 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007396 name: Nidovirales infectious disease def: "A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Nidovirales viruses." [] def: "Infections with viruses of the order nidovirales. The concept includes arterivirus infections and coronaviridae infections." [MESH:D030341] synonym: "Nidovirales caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Nidovirales disease or disorder" EXACT [] synonym: "Nidovirales Infections" EXACT [] synonym: "Nidovirales infectious disease" EXACT [] {comment="preferred label from MONDO"} xref: DOID:2949 xref: MESH:D030341 {source="MONDO:equivalentTo", source="EFO:0007396"} xref: MeSH:D030341 xref: MONDO:0005876 xref: UMLS:C0969753 {source="MONDO:equivalentTo"} is_a: MONDO:0100329 ! primary viral infectious disease property_value: exactMatch http://identifiers.org/mesh/D030341 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0969753 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007397 name: nocardiosis def: "An opportunistic bacterial infectious disease that results_in disseminated infection in immunocompromised hosts, has_material_basis_in Nocardia asteroides. The infection has_symptom pneumonia, has_symptom cellulitis, has_symptom lesions in the brain or meninges, and has_symptom ascending regional lymphadenopathy." [] def: "Nocardiosis is a local (skin, lung, brain) or disseminated (whole body) acute, subacute, or chronic bacterial infection." [Orphanet:31204] subset: gard_rare {source="GARD:0007210"} subset: ordo_disease {source="Orphanet:31204"} synonym: "lung nocardiosis" RELATED [GARD:0007210] synonym: "Nocardia caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Nocardia disease or disorder" EXACT [] synonym: "Nocardia infection" RELATED [GARD:0007210] synonym: "Nocardia Infections" EXACT [] synonym: "Nocardia infectious disease" EXACT [DOID:2312] synonym: "nocardiosis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:2312 {source="MONDO:equivalentTo", source="EFO:0007397"} xref: ICD10CM:A43 {source="DOID:2312", source="MONDO:equivalentTo"} xref: MedDRA:10029444 {source="Orphanet:31204", source="Orphanet:31204/e"} xref: MESH:D009617 {source="DOID:2312", source="MONDO:equivalentTo", source="EFO:0007397"} xref: MeSH:D009617 xref: MONDO:0017776 xref: NCIT:C171147 {source="MONDO:equivalentTo"} xref: Orphanet:31204 {source="MONDO:equivalentTo"} xref: SCTID:29227009 {source="DOID:2312", source="MONDO:equivalentTo"} is_a: MONDO:0000316 {source="DOID:2312"} ! opportunistic bacterial infectious disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare property_value: closeMatch http://identifiers.org/meddra/10029444 property_value: exactMatch DOID:2312 property_value: exactMatch http://identifiers.org/mesh/D009617 property_value: exactMatch http://identifiers.org/snomedct/29227009 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A43 property_value: exactMatch NCIT:C171147 property_value: exactMatch Orphanet:31204 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7210/nocardiosis xsd:anyURI {source="GARD:0007210"} [Term] id: EFO:0007398 name: ocular onchocerciasis def: "A onchocerciasis that involves parasitic infection of the eye by the larvae of Onchocerca volvulus. The microfilariae migrate to the surface of the cornea. Punctate keratitis occurs in the infected area. In severe infection, sclerosing keratitis occurs, making the affected area become opaque leading to blindness." [] def: "Onchocerciasis affecting the eye." [NCIT:C34862] synonym: "eyeball of camera-type eye onchocerciasis" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "Ocular Onchocerciasis" EXACT [] synonym: "ocular onchocerciasis" EXACT [] {comment="preferred label from MONDO"} synonym: "Ocular onchocerciasis (disorder)" EXACT [] synonym: "onchocerciasis of eyeball of camera-type eye" EXACT [MONDO:design_pattern] synonym: "Onchocerciasis, Ocular" EXACT [] synonym: "river blindness" EXACT [] xref: DOID:11680 xref: MESH:D015827 {source="MONDO:equivalentTo", source="EFO:0007398"} xref: MeSH:D015827 xref: MONDO:0005878 xref: NCIT:C34862 {source="MONDO:equivalentTo"} xref: SCTID:240842000 {source="MONDO:equivalentTo"} xref: UMLS:C0029002 {source="MONDO:equivalentTo", source="NCIT:C34862"} is_a: EFO:0007402 {source="MESH:D015827", source="MONDO:Redundant", source="NCIT:C34862"} ! onchocerciasis is_a: MONDO:0020947 ! parasitic eye infection property_value: exactMatch http://identifiers.org/mesh/D015827 property_value: exactMatch http://identifiers.org/snomedct/240842000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029002 property_value: exactMatch NCIT:C34862 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007399 name: ocular toxoplasmosis def: "A toxoplasmosis that results from reactivation of congenital toxoplasmosis, but rarely with acquired infection. Focal necrotizing retinitis and a secondary granulomatous inflammation of the choroid occur. The symptoms include conjunctivitis, ocular pain, blurred vision, and blindness." [] def: "Ocular toxoplasmosis is an infection in the eye caused by the parasite, Toxoplasm a gondii. Toxoplasmosis is the most common cause of eye inflammation in the world. Toxoplamosis can beacquired or present at birth (congenital), having crossed the placenta from a newly infected mother to her fetus. Most humans acquire toxoplasmosis by eating raw or undercooked meat, vegetables or milk products, or by coming into contact with infected cat litterbox or sandboxes.In humans,the infectionusually causes no symptoms, and resolves without treatment in a few months. In individuals with compromised immune systems, Toxoplasm a gondii can reactivate to cause disease. Reactivation of a congenital infection was traditionally thought to be the most common cause ofocular toxoplasmosis, but an acquired infection is now considered to be more common. A toxoplasmosis infection that affects the eye usually attacks the retina andinitially resolves without symptoms. However,the inactive parasite maylaterreactivate causing eyepain, blurred vision, and possibly permanent damage, including blindness. Although most cases of toxoplasmosis resolve on their own,for some,inflammation can be treated with antibiotics and steroids." [https://rarediseases.info.nih.gov/diseases/7238/ocular-toxoplasmosis] subset: gard_rare {source="GARD:0007238"} synonym: "Chorioretinitis due to toxoplasmosis" EXACT [] synonym: "Conjunctivitis due to acquired toxoplasmosis (disorder)" EXACT [] synonym: "Conjunctivitis due to toxoplasmosis" EXACT [] synonym: "ocular toxoplasmosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Ocular toxoplasmosis (disorder)" EXACT [] synonym: "Toxoplasma chorioretinitis" EXACT [] synonym: "Toxoplasma conjunctivitis" EXACT [] synonym: "Toxoplasmosis chorioretinitis (disorder)" EXACT [] synonym: "Toxoplasmosis, Ocular" EXACT [] xref: DOID:13343 xref: ICD9:130.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10067246 xref: MESH:D014126 {source="MONDO:equivalentTo", source="EFO:0007399"} xref: MeSH:D014126 xref: MONDO:0005879 xref: SCTID:416481006 {source="MONDO:equivalentTo"} xref: UMLS:C0040561 {source="GARD:0007238", source="MONDO:equivalentTo"} is_a: EFO:0007517 ! toxoplasmosis is_a: MONDO:0020947 ! parasitic eye infection property_value: exactMatch http://identifiers.org/mesh/D014126 property_value: exactMatch http://identifiers.org/snomedct/416481006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040561 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7238/ocular-toxoplasmosis xsd:anyURI {source="GARD:0007238"} [Term] id: EFO:0007400 name: oesophagostomiasis def: "A parasitic helminthiasis infectious disease that involves infection of the intestine in goats, pigs and humans by the nematode Oesophagostomum bifurcum. The symptoms are a low-grade fever, tenderness in the lower-right quadrant and painless cutaneous masses in the lower abdominal region. Rarely, Oesophagostomum spp will perforate the bowel wall, causing purulent peritonitis or migrate to the skin, producing cutaneous nodules." [] def: "Infection of the intestinal tract with worms of the genus oesophagostomum. This condition occurs mainly in animals other than humans." [MESH:D009814] synonym: "Infection by Oesophagostomum" EXACT [] synonym: "infection by Oesophagostomum" EXACT [DOID:3983] synonym: "Oesophagostomiasis" EXACT [] synonym: "oesophagostomiasis" EXACT [] {comment="preferred label from MONDO"} synonym: "Oesophagostomum caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Oesophagostomum disease or disorder" EXACT [] synonym: "Oesophagostomum infectious disease" EXACT [] xref: DOID:3983 {source="EFO:0007400", source="MONDO:equivalentTo"} xref: ICD9:127.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D009814 {source="EFO:0007400", source="DOID:3983", source="MONDO:equivalentTo"} xref: MeSH:D009814 xref: MONDO:0005880 xref: SCTID:22500005 {source="DOID:3983", source="MONDO:equivalentTo"} xref: UMLS:C0028887 {source="DOID:3983", source="MONDO:equivalentTo"} is_a: EFO:0007500 ! Strongylida infectious disease is_a: EFO:0010282 ! gastrointestinal disease property_value: exactMatch DOID:3983 property_value: exactMatch http://identifiers.org/mesh/D009814 property_value: exactMatch http://identifiers.org/snomedct/22500005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0028887 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007401 name: oligohydramnios def: "A lower than normal quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of less than 5 cm or a single maximum vertical pocket (MVP) of less than 2 cm." [NCIT:P378] def: "A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion." [] comment: Consider obsoleting as represents a finding synonym: "antepartum oligohydramnios" EXACT [DOID:12215] synonym: "delivered oligohydramnios" EXACT [DOID:12215] synonym: "Oligohydramnios" EXACT [] synonym: "oligohydramnios" EXACT [MONDO:ambiguous] synonym: "oligohydramnios" EXACT [] {comment="preferred label from MONDO"} synonym: "oligohydramnios (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "oligohydramnios - delivered" EXACT [DOID:12215] synonym: "Oligohydramnios - delivered (disorder)" EXACT [] xref: DOID:12215 {source="EFO:0007401", source="MONDO:equivalentTo"} xref: HP:0001562 {source="MONDO:otherHierarchy"} xref: ICD9:658.0 {source="DOID:12215"} xref: ICD9:658.00 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10030289 xref: MedDRA:10030291 xref: MedDRA:10030292 xref: MedDRA:10030293 xref: MESH:D016104 {source="EFO:0007401", source="DOID:12215", source="MONDO:equivalentTo"} xref: MeSH:D016104 xref: MONDO:0005881 xref: SCTID:59566000 {source="DOID:12215", source="MONDO:equivalentTo"} is_a: EFO:0007441 {source="DOID:12215", source="EFO:0007401"} ! placenta disease property_value: exactMatch DOID:12215 property_value: exactMatch http://identifiers.org/mesh/D016104 property_value: exactMatch http://identifiers.org/snomedct/59566000 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000589 "oligohydramnios (disease)" xsd:string [Term] id: EFO:0007402 name: onchocerciasis def: "A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy." [] def: "Onchocerciasis is a form of filariasis, caused by the parasitic worm Onchocerca volvulus, transmitted by the black fly. The infection can either be asymptomatic or manifest as an ocular disease (river blindness) with itchy eyes, erythema, photophobia, onchodermatitis or onchocercal skin disease (classified into acute papular, chronic papular, lichenified, atrophic, and depigmentated) and onchocercomas (over bony prominences). Other classic clinical manifestations are ichthyosis-like lesions (''lizard skin'') and ''hanging groin'', which may be associated with lymphadenopathy." [Orphanet:2737] subset: gard_rare {source="GARD:0007252"} subset: ordo_disease {source="Orphanet:2737"} synonym: "infection by Onchocerca volvulus" EXACT [] synonym: "Infection by Onchocerca volvulus (disorder)" EXACT [] synonym: "infection caused by Onchocerca volvulus" RELATED [] synonym: "Onchocerca volvulus infection" EXACT [DOID:11678] synonym: "Onchocerciasis" EXACT [] synonym: "onchocerciasis" EXACT [] {comment="preferred label from MONDO"} synonym: "onchocercosis" RELATED [] synonym: "River blindness" RELATED [GARD:0007252] synonym: "Robles' disease" RELATED [GARD:0007252] synonym: "volvulosis" EXACT [DOID:11678] xref: DOID:11678 {source="EFO:0007402", source="MONDO:equivalentTo"} xref: ICD10CM:B73 {source="Orphanet:2737/e", source="DOID:11678", source="MONDO:equivalentTo", source="Orphanet:2737"} xref: ICD9:125.3 {source="DOID:11678"} xref: MedDRA:10030314 {source="Orphanet:2737/e", source="Orphanet:2737"} xref: MedDRA:10039202 {source="Orphanet:2737/e", source="Orphanet:2737"} xref: MESH:D009855 {source="Orphanet:2737/e", source="DOID:11678", source="EFO:0007402", source="MONDO:equivalentTo", source="Orphanet:2737"} xref: MeSH:D009855 xref: MONDO:0017137 xref: NCIT:C34861 {source="DOID:11678", source="MONDO:equivalentTo"} xref: Orphanet:2737 {source="MONDO:equivalentTo"} xref: SCTID:38539003 {source="DOID:11678", source="MONDO:equivalentTo"} xref: UMLS:C0029001 {source="Orphanet:2737/e", source="DOID:11678", source="MONDO:equivalentTo", source="NCIT:C34861", source="Orphanet:2737"} is_a: EFO:0000701 ! skin disease is_a: EFO:0007468 ! Rhabditida infectious disease is_a: MONDO:0016075 {source="DOID:11678", source="MESH:D009855", source="Orphanet:2737"} ! filariasis is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease relationship: disease_has_feature EFO:1000697 {source="MONDO:Wikidata"} ! exanthem relationship: disease_has_feature MONDO:0001941 {source="MONDO:Wikidata"} ! blindness (disorder) property_value: closeMatch http://identifiers.org/meddra/10030314 property_value: closeMatch http://identifiers.org/meddra/10039202 property_value: exactMatch DOID:11678 property_value: exactMatch http://identifiers.org/mesh/D009855 property_value: exactMatch http://identifiers.org/snomedct/38539003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029001 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B73 property_value: exactMatch NCIT:C34861 property_value: exactMatch Orphanet:2737 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7252/onchocerciasis xsd:anyURI {source="GARD:0007252"} [Term] id: EFO:0007403 name: ophthalmic herpes zoster def: "A Varicellovirus infectious disease that results_in infection located_in eye, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection." [] def: "Virus infection of the Gasserian ganglion and its nerve branches characterized by pain and vesicular eruptions with much swelling. Ocular involvement is usually heralded by a vesicle on the tip of the nose. This area is innervated by the nasociliary nerve." [MESH:D006563] synonym: "Herpes Zoster Ophthalmicus" EXACT [] synonym: "Herpes zoster ophthalmicus" EXACT [] synonym: "herpes zoster ophthalmicus" EXACT [] synonym: "Herpes zoster ophthalmicus (disorder)" EXACT [] synonym: "Herpes zoster ophthalmicus (HZO)" RELATED [GARD:0009721] synonym: "Herpes zoster with ophthalmic complication (disorder)" EXACT [] synonym: "Herpes zoster with other ophthalmic complication (disorder)" EXACT [] synonym: "herpes zoster with other ophthalmic complications" EXACT [] synonym: "HZO" RELATED ABBREVIATION [GARD:0009721] synonym: "ophthalmic herpes zoster" EXACT [] {comment="preferred label from MONDO"} synonym: "Ophthalmic herpes zoster infection" EXACT [] xref: DOID:8535 xref: ICD9:053.29 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10030865 xref: MESH:D006563 {source="EFO:0007403", source="MONDO:equivalentTo"} xref: MeSH:D006563 xref: MONDO:0005883 xref: SCTID:87513003 {source="MONDO:equivalentTo"} xref: UMLS:C0019364 {source="MONDO:equivalentTo"} is_a: EFO:0006510 {source="EFO:0007403", source="MESH:D006563"} ! Herpes Zoster is_a: EFO:0009569 ! trigeminal nerve disease is_a: MONDO:0020010 {source="MONDO:Redundant"} ! infectious disorder of the nervous system property_value: exactMatch http://identifiers.org/mesh/D006563 property_value: exactMatch http://identifiers.org/snomedct/87513003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019364 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007404 name: opisthorchiasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma." [] def: "Infection with flukes of the genus Opisthorchis." [MESH:D009889] subset: gard_rare {source="GARD:0009746"} synonym: "Infection by Opisthorchis" EXACT [] synonym: "infection by Opisthorchis" EXACT [DOID:13768] synonym: "infection due to cat liver fluke" RELATED [GARD:0009746] synonym: "infection due to Opisthorchis (felineus)(viverrini)" RELATED [GARD:0009746] synonym: "Opisthorchiasis" EXACT [] synonym: "opisthorchiasis" EXACT [] {comment="preferred label from MONDO"} synonym: "Opisthorchiasis (& [cat liver fluke infection])" EXACT [] synonym: "Opisthorchiasis (disorder)" EXACT [] xref: DOID:13768 {source="EFO:0007404", source="MONDO:equivalentTo"} xref: ICD10CM:B66.0 {source="DOID:13768", source="MONDO:equivalentTo"} xref: ICD9:121.0 {source="DOID:13768", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10030897 xref: MESH:D009889 {source="DOID:13768", source="EFO:0007404", source="MONDO:equivalentTo"} xref: MeSH:D009889 xref: MONDO:0005884 xref: SCTID:1059007 {source="DOID:13768", source="MONDO:equivalentTo"} xref: UMLS:C0029106 {source="DOID:13768", source="MONDO:equivalentTo"} is_a: EFO:1001342 {source="DOID:13768", source="ICD10CM:B66.0/inferred", source="MESH:D009889/inferred"} ! Helminthiasis property_value: exactMatch DOID:13768 property_value: exactMatch http://identifiers.org/mesh/D009889 property_value: exactMatch http://identifiers.org/snomedct/1059007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029106 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B66.0 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9746/opisthorchiasis xsd:anyURI {source="GARD:0009746"} [Term] id: EFO:0007405 name: optic neuritis def: "An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision." [] def: "Optic neuritis is inflammation of the optic nerve, the nerve that carries the visual signal from the eye to the brain.The conditionmay cause sudden, reduced vision in the affected eye(s). While the cause of optic neuritis is unknown, it has been associated with autoimmune diseases, infections, multiple sclerosis, drug toxicity and deficiency of vitamin B-12. Vision often returns to normal within 2-3 weeks without treatment. In some cases, corticosteroids are given to speed recovery. If known, the underlying cause should be treated." [https://rarediseases.info.nih.gov/diseases/7320/optic-neuritis] subset: gard_rare {source="GARD:0007320"} synonym: "Optic Neuritis" EXACT [] synonym: "optic neuritis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:1210 {source="EFO:0007405", source="MONDO:equivalentTo"} xref: ICD10:H46 xref: ICD10CM:H46 {source="DOID:1210", source="MONDO:equivalentTo"} xref: ICD9:377.3 {source="DOID:1210"} xref: ICD9:377.30 {source="DOID:1210", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:377.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10030942 xref: MedDRA:10030946 xref: MESH:D009902 {source="DOID:1210", source="EFO:0007405", source="MONDO:equivalentTo"} xref: MeSH:D009902 xref: MONDO:0005885 xref: NCIT:C84950 {source="DOID:1210", source="MONDO:equivalentTo"} xref: SCTID:66760008 {source="DOID:1210", source="MONDO:equivalentTo"} is_a: EFO:0001423 ! encephalomyelitis is_a: EFO:0003966 {source="EFO:0007405", source="MESH:D009902/inferred"} ! eye disease is_a: MONDO:0002135 {source="DOID:1210", source="MESH:D009902", source="MONDO:Redundant", source="NCIT:C84950/inferred"} ! optic nerve disorder property_value: exactMatch DOID:1210 property_value: exactMatch http://identifiers.org/mesh/D009902 property_value: exactMatch http://identifiers.org/snomedct/66760008 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H46 property_value: exactMatch NCIT:C84950 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7320/optic-neuritis xsd:anyURI {source="GARD:0007320"} [Term] id: EFO:0007406 name: oral candidiasis def: "A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes." [] def: "Infection of the mucosal lining of the mouth with the fungus Candida albicans." [NCIT:P378] synonym: "Candidiasis of mouth" EXACT [] synonym: "candidiasis of mouth" EXACT [DOID:14262, ICD9CM:112.0] synonym: "Candidiasis of mouth (disorder)" EXACT [] synonym: "Candidiasis, Oral" EXACT [] synonym: "mouth candidiasis" EXACT [MONDO:patterns/location] synonym: "oral candidiasis" EXACT [] {comment="preferred label from MONDO"} synonym: "Oral moniliasis" EXACT [] synonym: "oral moniliasis" EXACT [DOID:14262] synonym: "thrush" BROAD [DOID:14262, NCIT:C28137] synonym: "thrush" EXACT [] synonym: "thrush (disorder)" EXACT [] synonym: "Thrush, oral" EXACT [] synonym: "thrush, oral" EXACT [DOID:14262] xref: DOID:14262 {source="MONDO:equivalentTo", source="EFO:0007406"} xref: ICD9:112.0 {source="MONDO:equivalentTo", source="DOID:14262", source="MONDO:i2s"} xref: MedDRA:10030963 xref: MESH:D002180 {source="MONDO:equivalentTo", source="DOID:14262", source="EFO:0007406"} xref: MeSH:D002180 xref: MONDO:0005886 xref: NCIT:C28137 {source="MONDO:equivalentTo", source="DOID:14262"} xref: SCTID:79740000 {source="MONDO:equivalentTo", source="DOID:14262"} xref: UMLS:C0006849 {source="NCIT:C28137", source="MONDO:equivalentTo", source="DOID:14262"} is_a: EFO:1001047 {source="DOID:14262", source="MESH:D002180", source="MONDO:Redundant"} ! mouth disease is_a: MONDO:0002026 {source="DOID:14262", source="MESH:D002180", source="MONDO:Redundant", source="NCIT:C28137"} ! candidiasis property_value: exactMatch DOID:14262 property_value: exactMatch http://identifiers.org/mesh/D002180 property_value: exactMatch http://identifiers.org/snomedct/79740000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006849 property_value: exactMatch NCIT:C28137 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007407 name: oral tuberculosis def: "A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located_in tongue, located_in palate, located_in maxilla or located_in mandible." [] def: "Tuberculosis of the mouth, tongue, and salivary glands." [MESH:D014393] synonym: "oral tuberculosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Oral tuberculosis (disorder)" EXACT [] synonym: "Tuberculosis, Oral" EXACT [] xref: DOID:402 {source="EFO:0007407", source="MONDO:equivalentTo"} xref: ICD9:017.90 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:528.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10076879 xref: MESH:D014393 {source="DOID:402", source="EFO:0007407", source="MONDO:equivalentTo"} xref: MeSH:D014393 xref: MONDO:0005887 xref: SCTID:235067001 {source="DOID:402", source="MONDO:equivalentTo"} xref: UMLS:C0041323 {source="DOID:402", source="MONDO:equivalentTo"} is_a: EFO:0007280 {source="DOID:402", source="EFO:0007407"} ! gastrointestinal tuberculosis is_a: EFO:0009903 ! inflammatory disease is_a: EFO:1001047 ! mouth disease property_value: exactMatch DOID:402 property_value: exactMatch http://identifiers.org/mesh/D014393 property_value: exactMatch http://identifiers.org/snomedct/235067001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041323 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007408 name: orbital cancer def: "A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis." [] def: "A primary or metastatic malignant neoplasm involving the orbit." [NCIT:P378] synonym: "cancer of orbit of skull" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of orbit" EXACT [DOID:4143, ICD9CM:190.1] synonym: "malignant neoplasm of orbit of skull" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the orbit" EXACT [NCIT:C3562] synonym: "malignant orbit neoplasm" EXACT [NCIT:C3562] synonym: "malignant orbit of skull neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant orbit tumor" EXACT [NCIT:C3562] synonym: "malignant orbit tumour" EXACT OMO:0003005 [] synonym: "malignant orbital neoplasm" EXACT [NCIT:C3562] synonym: "malignant orbital tumor" EXACT [NCIT:C3562] synonym: "malignant orbital tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of orbit" EXACT [NCIT:C3562] synonym: "malignant tumor of the orbit" EXACT [NCIT:C3562] synonym: "malignant tumour of orbit" EXACT OMO:0003005 [] synonym: "malignant tumour of the orbit" EXACT OMO:0003005 [] synonym: "neoplasm of orbit proper" BROAD [DOID:4143] synonym: "neoplasm of orbit proper (disorder)" EXACT [] synonym: "orbit cancer" EXACT [DOID:4143] synonym: "orbit of skull cancer" EXACT [MONDO:patterns/location] synonym: "orbital cancer" EXACT [] {comment="preferred label from MONDO"} synonym: "Orbital Neoplasms" EXACT [] synonym: "orbital tumor" BROAD [DOID:4143, NCIT:C3290] synonym: "orbital tumor" EXACT [] synonym: "orbital tumour" BROAD OMO:0003005 [] xref: DOID:4143 {source="MONDO:equivalentTo"} xref: ICD9:190.1 {source="DOID:4143"} xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MeSH:D009918 xref: MONDO:0002889 xref: NCIT:C3290 {source="MONDO:relatedTo", source="DOID:4143"} xref: NCIT:C3562 {source="MONDO:equivalentTo", source="DOID:4143"} xref: SCTID:127003006 {source="MONDO:equivalentTo", source="DOID:4143"} is_a: MONDO:0002132 ! skull cancer is_a: MONDO:0024611 ! orbit neoplasm property_value: exactMatch DOID:4143 property_value: exactMatch http://identifiers.org/snomedct/127003006 property_value: exactMatch NCIT:C3562 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007409 name: ornithine carbamoyltransferase deficiency name: Ornithine transcarbamylase deficiency def: "An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase." [] def: "Ornithine carbamyl transferase deficiency is a disorder or urea cycle metabolism which clinical presentaton depends on the amount of residual enzyme activity, ranging from very severe neonatal hyperammonemic coma in males with no enzyme activity, to juvenile or adult hyperammonemic coma in males with residual enzyme activity. Females can be either asymptomatic or present with dislike for proteins to chronic vomiting, growth retardation, hypotonia, psychomotor retardation, hyperammonemic coma, or psychiatric disorders." [] def: "Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications." [Orphanet:664] subset: clingen subset: ordo_disease {source="Orphanet:664"} synonym: "deficiency of citrulline phosphorylase" EXACT [DOID:9271] synonym: "OCT deficiency" EXACT [Orphanet:664] synonym: "Ornithine carbamoyltransferase deficiency" EXACT [] synonym: "ornithine carbamoyltransferase deficiency" EXACT [] {comment="preferred label from MONDO"} synonym: "ornithine carbamoyltransferase deficiency" EXACT [OMIM:311250, Orphanet:664] synonym: "Ornithine Carbamoyltransferase Deficiency Disease" EXACT [] synonym: "ornithine carbamoyltransferase deficiency disease" EXACT [NCIT:C84957] synonym: "ornithine transcarbamylase deficiency" EXACT [DOID:9271] synonym: "ornithine transcarbamylase deficiency, hyperammonemia due to" RELATED [OMIM:311250] synonym: "OTC deficiency" EXACT [OMIM:311250, Orphanet:664] synonym: "OTCD" EXACT ABBREVIATION [GARD:0008391] synonym: "valproate sensitivity" RELATED [OMIM:311250] xref: DOID:9271 {source="MONDO:equivalentTo", source="EFO:0007409"} xref: ICD10:E72.2 xref: MedDRA:10052450 {source="Orphanet:664", source="Orphanet:664/e"} xref: MedDRA:10052513 xref: MESH:D020163 {source="Orphanet:664", source="MONDO:equivalentTo", source="DOID:9271", source="Orphanet:664/e", source="EFO:0007409"} xref: MeSH:D020163 xref: MONDO:0010703 xref: NCIT:C84957 {source="MONDO:equivalentTo", source="DOID:9271"} xref: OMIM:311250 {source="Orphanet:664", source="MONDO:equivalentTo", source="DOID:9271", source="Orphanet:664/e"} xref: Orphanet:664 {source="OMIM:311250", source="MONDO:equivalentTo"} xref: SCTID:80908008 {source="MONDO:equivalentTo", source="DOID:9271"} xref: UMLS:C0268542 {source="OMIM:311250", source="Orphanet:664", source="NCIT:C84957", source="MONDO:equivalentTo", source="DOID:9271", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:664/e"} is_a: EFO:0007531 ! urogenital tuberculosis is_a: MONDO:0800153 {source="PMID:33340416"} ! urea cycle disorder or inherited hyperammonemia is_a: Orphanet:182076 ! Syndromic neurometabolic disease with X-linked intellectual disability is_a: Orphanet:79167 ! Disorder of urea cycle metabolism and ammonia detoxification property_value: closeMatch http://identifiers.org/meddra/10052450 property_value: definition:citation "orphanet" xsd:string property_value: exactMatch DOID:9271 property_value: exactMatch http://identifiers.org/mesh/D020163 property_value: exactMatch http://identifiers.org/snomedct/80908008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268542 property_value: exactMatch https://omim.org/entry/311250 property_value: exactMatch NCIT:C84957 property_value: exactMatch Orphanet:664 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: EFO:0007410 name: ornithosis def: "A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia." [] def: "Disease caused by the Chlamydophila psittaci bacteria, usually transmitted from birds to humans." [NCIT:P378] synonym: "ornithosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Psittacosis" EXACT [] synonym: "psittacosis" EXACT [DOID:11262] xref: DOID:11262 {source="MONDO:equivalentTo", source="EFO:0007410"} xref: ICD9:073 {source="DOID:11262"} xref: ICD9:073.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11262"} xref: MedDRA:10031088 xref: MedDRA:10031092 xref: MESH:D009956 {source="MONDO:equivalentTo", source="DOID:11262", source="EFO:0007410"} xref: MeSH:D009956 xref: MONDO:0005888 xref: NCIT:C34873 {source="MONDO:equivalentTo", source="DOID:11262"} xref: SCTID:75116005 {source="MONDO:equivalentTo", source="DOID:11262"} xref: UMLS:C0029291 {source="MONDO:equivalentTo", source="DOID:11262", source="NCIT:C34873"} is_a: MONDO:0000314 {source="DOID:11262"} ! primary bacterial infectious disease property_value: exactMatch DOID:11262 property_value: exactMatch http://identifiers.org/mesh/D009956 property_value: exactMatch http://identifiers.org/snomedct/75116005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029291 property_value: exactMatch NCIT:C34873 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007411 name: Orthomyxoviridae infectious disease def: "A (-)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Orthomyxoviridae family viruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by contaminated fomites." [] synonym: "disease due to Orthomyxoviridae (disorder)" EXACT [] synonym: "Orthomyxoviridae disease" EXACT [] synonym: "Orthomyxoviridae Infections" EXACT [] xref: DOID:4493 xref: MeSH:D009976 is_a: EFO:0000763 ! viral disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007412 name: ossifying fibroma def: "A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma." [] synonym: "Fibro-osteoma (disorder)" EXACT [] synonym: "Fibroma, Ossifying" EXACT [] synonym: "Ossifying fibroma (calcified structure)" EXACT [] synonym: "Ossifying fibroma (morphologic abnormality)" EXACT [] xref: DOID:180 xref: MeSH:D018214 is_a: EFO:0003820 ! bone neoplasm property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007413 name: osteitis fibrosa def: "A bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone." [] def: "A disorder that is characterized by bone cysts and fractures, resulting from hyperparathyroidism." [NCIT:P378] synonym: "hyperparathyroid bone disease" EXACT [DOID:3341] synonym: "osteitis fibrosa" EXACT [] {comment="preferred label from MONDO"} synonym: "Osteitis Fibrosa Cystica" EXACT [] synonym: "osteitis fibrosa cystica" EXACT [NCIT:C34875] synonym: "osteitis fibrosa cystica generalisata" EXACT [DOID:3341] synonym: "Osteitis fibrosa cystica generalisata (disorder)" EXACT [] synonym: "Von Recklinghausen disease of Bone" EXACT [NCIT:C34875] synonym: "Von Recklinghausen's bone disease" EXACT [DOID:3341] synonym: "Von Recklinghausen's disease of Bone" EXACT [NCIT:C34875] xref: DOID:3341 {source="EFO:0007413", source="MONDO:equivalentTo"} xref: MESH:D010002 {source="DOID:3341", source="EFO:0007413", source="MONDO:equivalentTo"} xref: MeSH:D010002 xref: MONDO:0005890 xref: NCIT:C34875 {source="DOID:3341", source="MONDO:equivalentTo"} xref: SCTID:84727000 {source="DOID:3341", source="MONDO:equivalentTo"} xref: UMLS:C0029405 {source="DOID:3341", source="MONDO:equivalentTo"} is_a: MONDO:0000837 {source="DOID:3341"} ! bone resorption disease property_value: exactMatch DOID:3341 property_value: exactMatch http://identifiers.org/mesh/D010002 property_value: exactMatch http://identifiers.org/snomedct/84727000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029405 property_value: exactMatch NCIT:C34875 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007414 name: ostertagiasis def: "A disease of herbivorous mammals, particularly cattle and sheep, caused by stomach worms of the genus ostertagia." [MESH:D010029] def: "A trichostrongyloidiasis that involves parasitic infection of the ruminant gastrointestinal tract by nematodes of the genus Ostertagia." [] synonym: "Ostertagiasis" EXACT [] synonym: "ostertagiasis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:3985 {source="EFO:0007414", source="MONDO:equivalentTo"} xref: MESH:D010029 {source="EFO:0007414", source="MONDO:equivalentTo", source="DOID:3985"} xref: MeSH:D010029 xref: MONDO:0005891 xref: UMLS:C0029471 {source="MONDO:equivalentTo", source="DOID:3985"} is_a: EFO:0007522 {source="DOID:3985", source="MESH:D010029"} ! trichostrongyloidiasis property_value: exactMatch DOID:3985 property_value: exactMatch http://identifiers.org/mesh/D010029 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029471 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007415 name: otitis media with effusion def: "A non-suppurative otitis media which is a collection of fluid that occurs in the middle ear space as a result of the negative pressure produced by altered Eustachian tube function. This can occur from viral upper respiratory infection or bacterial infection, or it can precede and/or follow acute bacterial otitis media." [] def: "Otitis media associated with accumulation of fluid in the middle ear." [NCIT:C34886] synonym: "Glue ear" EXACT [] synonym: "Mucoid otitis media" EXACT [] synonym: "Mucoid otitis media NOS (disorder)" EXACT [] synonym: "OME" EXACT ABBREVIATION [NCIT:C34886] synonym: "Otitis Media with Effusion" EXACT [] synonym: "Otitis media with effusion" EXACT [] synonym: "otitis media with effusion" EXACT [] {comment="preferred label from MONDO"} synonym: "Otitis media with effusion - mucoid" EXACT [] synonym: "Otitis media, transudative" EXACT [] synonym: "Secretory Otitis Media" EXACT [] synonym: "secretory otitis Media" EXACT [NCIT:C34886] synonym: "serous otitis Media" EXACT [NCIT:C34886] synonym: "Transudative otitis media" EXACT [] xref: DOID:11179 xref: ICD10:H65 xref: ICD9:381.20 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:381.29 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10081113 xref: MESH:D010034 {source="EFO:0007415", source="MONDO:equivalentTo"} xref: MeSH:D010034 xref: MONDO:0005892 xref: NCIT:C34886 {source="MONDO:equivalentTo"} xref: SCTID:78868004 {source="MONDO:equivalentTo"} is_a: MONDO:0021206 ! chronic non-suppurative otitis media property_value: exactMatch http://identifiers.org/mesh/D010034 property_value: exactMatch http://identifiers.org/snomedct/78868004 property_value: exactMatch NCIT:C34886 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007416 name: pancreatic endocrine carcinoma def: "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma." [NCIT:C3770] subset: ordo_disease synonym: "carcinoma of endocrine pancreas" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma, islet cell, malignant" EXACT [NCIT:C3770] synonym: "endocrine pancreas carcinoma" EXACT [MONDO:patterns/location] synonym: "high grade pancreatic neuroendocrine carcinoma" EXACT [NCIT:C3770] synonym: "high-grade pancreatic neuroendocrine carcinoma" EXACT [NCIT:C3770] synonym: "islet cell cancer" EXACT [NCIT:C3770] synonym: "islet cell carcinoma" EXACT [NCIT:C3770] synonym: "islet cell carcinoma (morphologic abnormality)" EXACT [DOID:1798] synonym: "malignant islet cell tumor" EXACT [NCIT:C3770] synonym: "malignant islet cell tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of islets of Langerhans" EXACT [DOID:1798] synonym: "malignant pancreatic endocrine tumor" EXACT [NCIT:C3770] synonym: "malignant pancreatic endocrine tumour" EXACT OMO:0003005 [] synonym: "neuroendocrine carcinoma of pancreas" RELATED [Orphanet:506098] synonym: "pancreatic endocrine cancer" EXACT [NCIT:C3770] synonym: "pancreatic endocrine carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "pancreatic endocrine carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "pancreatic endocrine carcinoma" EXACT [NCIT:C3770] synonym: "pancreatic NEC" EXACT [NCIT:C3770, Orphanet:506098] synonym: "pancreatic NEC G3" EXACT [NCIT:C3770] synonym: "Pancreatic Neuroendocrine cancer" EXACT [NCIT:C3770] synonym: "pancreatic neuroendocrine carcinoma" EXACT [DOID:1798, NCIT:C3770, Orphanet:506098] synonym: "poorly differentiated pancreatic endocrine carcinoma" EXACT [NCIT:C3770] synonym: "poorly-differentiated NEN of pancreas" EXACT [Orphanet:506098] synonym: "poorly-differentiated neuroendocrine neoplasm of pancreas" EXACT [Orphanet:506098] synonym: "poorly-differentiated pancreatic NEN" EXACT [Orphanet:506098] synonym: "poorly-differentiated pancreatic neuroendocrine neoplasm" EXACT [Orphanet:506098] xref: DOID:1798 {source="EFO:0007416", source="MONDO:equivalentTo"} xref: EFO:0007416 {source="MONDO:equivalentTo"} xref: ICD10:C25.4 {source="MONDO:equivalentTo", source="DOID:1798"} xref: ICD10CM:C25.4 {source="MONDO:equivalentTo", source="DOID:1798"} xref: ICD9:157.4 {source="DOID:1798"} xref: ICDO:8150/3 {source="NCIT:C3770"} xref: MESH:D018273 {source="EFO:0007416", source="MONDO:equivalentTo", source="DOID:1798"} xref: MONDO:0005893 xref: NCIT:C3770 {source="MONDO:equivalentTo", source="DOID:1798"} xref: Orphanet:506098 {source="MONDO:equivalentTo"} xref: SCTID:254612002 {source="MONDO:equivalentTo", source="DOID:1798"} xref: UMLS:C1328479 {source="NCIT:C3770", source="MONDO:equivalentTo", source="DOID:1798"} is_a: EFO:0007331 {source="DOID:1798", source="MONDO:Redundant", source="NCIT:C3770", source="Orphanet:506098"} ! islet cell tumor is_a: EFO:1000218 {source="MONDO:Redundant", source="NCIT:C3770/inferred"} ! Digestive System Carcinoma is_a: EFO:1000359 {source="DOID:1798/inferred", source="MONDO:Redundant", source="NCIT:C3770"} ! Malignant Pancreatic Neoplasm is_a: MONDO:0002120 ! neuroendocrine carcinoma property_value: closeMatch http://identifiers.org/snomedct/187794005 property_value: closeMatch http://identifiers.org/snomedct/60346004 property_value: closeMatch http://identifiers.org/snomedct/93843007 property_value: exactMatch DOID:1798 property_value: exactMatch DOID:1798 property_value: exactMatch http://identifiers.org/mesh/D018273 property_value: exactMatch http://identifiers.org/mesh/D018273 property_value: exactMatch http://identifiers.org/snomedct/254612002 property_value: exactMatch http://identifiers.org/snomedct/254612002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1328479 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1328479 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/C25.4 property_value: exactMatch NCIT:C3770 property_value: exactMatch NCIT:C3770 property_value: exactMatch Orphanet:506098 property_value: exactMatch Orphanet:506098 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:0007417 name: paracoccidioidomycosis def: "A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis." [] def: "A systemic fungal infection caused by Paracoccidioides brasiliensis that is most often seen in immunocompromised patients. It affects the mucous membranes, lymph nodes, lungs and bones." [NCIT:P378] subset: gard_rare {source="GARD:0007323"} subset: ordo_disease {source="Orphanet:73260"} synonym: "lobo disease" RELATED [GARD:0007323] synonym: "Lutz-Splendore-Almeida disease" RELATED [GARD:0007323] synonym: "Mucocutaneous-lymphangitic paracoccidioidomycosis" EXACT [] synonym: "mucocutaneous-lymphangitic paracoccidioidomycosis" EXACT [DOID:12662] synonym: "Mucocutaneous-lymphangitic paracoccidioidomycosis (disorder)" EXACT [] synonym: "Paracoccidioidal granuloma" RELATED [GARD:0007323] synonym: "paracoccidioidal mycosis" EXACT [DOID:12662] synonym: "Paracoccidioidomycosis" EXACT [] synonym: "paracoccidioidomycosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Paracoccidioidomycosis (disorder)" EXACT [] synonym: "Paracoccidioidomycosis NOS (disorder)" EXACT [] synonym: "Paracoccidioidomycosis, unspecified (disorder)" EXACT [] synonym: "PCM" RELATED ABBREVIATION [GARD:0007323] synonym: "South American blastomycosis" RELATED [GARD:0007323] xref: DOID:12662 {source="MONDO:equivalentTo", source="EFO:0007417"} xref: ICD10CM:B41 {source="MONDO:equivalentTo", source="DOID:12662"} xref: ICD9:116.1 {source="DOID:12662"} xref: MedDRA:10033768 xref: MedDRA:10061906 {source="Orphanet:73260/e", source="Orphanet:73260"} xref: MESH:D010229 {source="Orphanet:73260/e", source="MONDO:equivalentTo", source="EFO:0007417", source="DOID:12662", source="Orphanet:73260"} xref: MeSH:D010229 xref: MONDO:0005894 xref: NCIT:C34891 {source="MONDO:equivalentTo", source="DOID:12662"} xref: Orphanet:73260 {source="MONDO:equivalentTo"} xref: SCTID:36866003 {source="MONDO:equivalentTo", source="DOID:12662"} xref: UMLS:C0030409 {source="Orphanet:73260/e", source="NCIT:C34891", source="MONDO:equivalentTo", source="DOID:12662", source="Orphanet:73260"} is_a: MONDO:0000308 {source="DOID:12662"} ! primary systemic mycosis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015578"} ! rare property_value: closeMatch http://identifiers.org/meddra/10061906 property_value: exactMatch DOID:12662 property_value: exactMatch http://identifiers.org/mesh/D010229 property_value: exactMatch http://identifiers.org/snomedct/36866003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030409 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B41 property_value: exactMatch NCIT:C34891 property_value: exactMatch Orphanet:73260 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7323/paracoccidioidomycosis xsd:anyURI {source="GARD:0007323"} [Term] id: EFO:0007418 name: paragonimiasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected." [] def: "A parasitic infection caused by trematodes of the Paragonimus genus. Humans are infected from ingestion of raw or undercooked food. It results in chronic lung infection and eosinophilia." [NCIT:P378] subset: gard_rare {source="GARD:0009815"} synonym: "infection by Paragonimus" EXACT [DOID:10699] synonym: "Infection by Paragonimus (disorder)" EXACT [] synonym: "lung fluke disease" EXACT [DOID:10699] synonym: "lung fluke infection" EXACT [DOID:10699] synonym: "Paragonimiasis" EXACT [] synonym: "paragonimiasis" EXACT [] {comment="preferred label from MONDO"} synonym: "Paragonimus westermani caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Paragonimus westermani disease or disorder" EXACT [] synonym: "Paragonimus westermani infection" RELATED [GARD:0009815] synonym: "Paragonimus westermani infectious disease" EXACT [] synonym: "pulmonary paragonimiasis" EXACT [DOID:10699] xref: DOID:10699 {source="EFO:0007418", source="MONDO:equivalentTo"} xref: ICD10CM:B66.4 {source="DOID:10699", source="MONDO:equivalentTo"} xref: ICD9:121.2 {source="DOID:10699", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10033794 xref: MESH:D010237 {source="DOID:10699", source="EFO:0007418", source="MONDO:equivalentTo"} xref: MeSH:D010237 xref: MONDO:0005895 xref: NCIT:C84995 {source="DOID:10699", source="MONDO:equivalentTo"} xref: SCTID:30369007 {source="DOID:10699", source="MONDO:equivalentTo"} xref: UMLS:C0030424 {source="DOID:10699", source="MONDO:equivalentTo", source="NCIT:C84995"} is_a: EFO:1001342 {source="DOID:10699", source="ICD10CM:B66.4/inferred", source="MESH:D010237/inferred"} ! Helminthiasis property_value: exactMatch DOID:10699 property_value: exactMatch http://identifiers.org/mesh/D010237 property_value: exactMatch http://identifiers.org/snomedct/30369007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030424 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B66.4 property_value: exactMatch NCIT:C84995 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9815/paragonimiasis xsd:anyURI {source="GARD:0009815"} [Term] id: EFO:0007419 name: Paramyxoviridae infectious disease def: "A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Paramyxoviridae viruses." [] def: "Infections with viruses of the family paramyxoviridae. This includes morbillivirus infections; respirovirus infections; pneumovirus infections; henipavirus infections; avulavirus infections; and rubulavirus infections." [MESH:D018184] synonym: "Paramyxoviridae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Paramyxoviridae disease or disorder" EXACT [] synonym: "Paramyxoviridae Infections" EXACT [] synonym: "Paramyxoviridae infectious disease" EXACT [] {comment="preferred label from MONDO"} xref: DOID:3056 xref: MESH:D018184 {source="MONDO:equivalentTo", source="EFO:0007419"} xref: MeSH:D018184 xref: MONDO:0005896 is_a: EFO:0007376 ! Mononegavirales infectious disease property_value: exactMatch http://identifiers.org/mesh/D018184 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007420 name: paratyphoid fever def: "A condition resembling typhoid fever that is caused by infection by Salmonella enterica serovar Parathyphi." [NCIT:P378] def: "A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly." [] subset: ordo_disease {source="Orphanet:443227"} synonym: "Paratyphoid" EXACT [] synonym: "paratyphoid" RELATED [DOID:3055] synonym: "paratyphoid a" EXACT [] synonym: "paratyphoid a" RELATED [DOID:3055] synonym: "paratyphoid A fever" RELATED [DOID:3055] synonym: "Paratyphoid A fever (disorder)" EXACT [] synonym: "paratyphoid b" EXACT [] synonym: "paratyphoid b" RELATED [DOID:3055] synonym: "paratyphoid B fever" RELATED [DOID:3055] synonym: "Paratyphoid B fever (disorder)" EXACT [] synonym: "paratyphoid c" EXACT [] synonym: "paratyphoid c" RELATED [DOID:3055] synonym: "paratyphoid C fever" RELATED [DOID:3055] synonym: "Paratyphoid C fever (disorder)" EXACT [] synonym: "Paratyphoid Fever" EXACT [] synonym: "paratyphoid fever" EXACT [] {comment="preferred label from MONDO"} synonym: "Paratyphoid Fever A" EXACT [] synonym: "Paratyphoid fever A" EXACT [] synonym: "paratyphoid fever A" RELATED [DOID:3055, ICD9CM:002.1, NCIT:C34894] synonym: "Paratyphoid Fever B" EXACT [] synonym: "Paratyphoid fever B" EXACT [] synonym: "paratyphoid fever B" RELATED [DOID:3055, ICD9CM:002.2, NCIT:C34895] synonym: "Paratyphoid Fever C" EXACT [] synonym: "Paratyphoid fever C" EXACT [] synonym: "paratyphoid fever C" RELATED [DOID:3055, ICD9CM:002.3, NCIT:C34896] xref: DOID:3055 {source="MONDO:equivalentTo", source="EFO:0007420"} xref: ICD9:002.1 {source="DOID:3055"} xref: ICD9:002.2 {source="DOID:3055"} xref: ICD9:002.3 {source="DOID:3055", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:002.9 {source="DOID:3055"} xref: MedDRA:10033971 xref: MedDRA:10033975 xref: MESH:D010284 {source="DOID:3055", source="MONDO:equivalentTo", source="EFO:0007420"} xref: MeSH:D010284 xref: MONDO:0018626 xref: NCIT:C34897 {source="DOID:3055", source="MONDO:equivalentTo"} xref: Orphanet:443227 {source="MONDO:equivalentTo"} xref: SCTID:51254007 {source="DOID:3055", source="MONDO:equivalentTo"} xref: UMLS:C0030528 {source="DOID:3055", source="MONDO:equivalentTo", source="Orphanet:443227", source="NCIT:C34897"} xref: UMLS:C0343375 {source="DOID:3055", source="MONDO:equivalentTo"} xref: UMLS:C0343376 {source="DOID:3055", source="MONDO:equivalentTo"} xref: UMLS:C0343377 {source="DOID:3055", source="MONDO:equivalentTo"} is_a: EFO:0010282 ! gastrointestinal disease is_a: MONDO:0000827 {source="Orphanet:443227"} ! salmonellosis property_value: exactMatch DOID:3055 property_value: exactMatch http://identifiers.org/mesh/D010284 property_value: exactMatch http://identifiers.org/snomedct/51254007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030528 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343375 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343376 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343377 property_value: exactMatch NCIT:C34897 property_value: exactMatch Orphanet:443227 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007421 name: paronychia def: "An acute or chronic infection of the soft tissues around the nail. Symptoms include pain, tenderness, erythema, and swelling around the nail. Acute infection results from minor trauma to the fingertip and Staphylococcus aureus is usually the causative agent. Chronic infection is usually caused by Candida albicans." [NCIT:P378] def: "Paronychia is a nail infectious disease where there is an often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate." [] synonym: "fungal nail infection" EXACT [DOID:13117] synonym: "Infected nailfold" EXACT [] synonym: "infected nailfold" EXACT [DOID:13117] synonym: "Onychia and paronychia of finger" EXACT [] synonym: "onychia and paronychia of finger" EXACT [DOID:13117] synonym: "Onychia and paronychia of toe" EXACT [] synonym: "onychia and paronychia of toe" EXACT [DOID:13117] synonym: "Paronychia" EXACT [] synonym: "paronychia" EXACT [MONDO:ambiguous] synonym: "paronychia" EXACT [] {comment="preferred label from MONDO"} synonym: "paronychia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "paronychia inflammation" RELATED [DOID:13117] xref: DOID:13117 {source="MONDO:equivalentTo", source="EFO:0007421"} xref: HP:0001818 {source="MONDO:otherHierarchy"} xref: ICD9:681.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10034016 xref: MESH:D010304 {source="DOID:13117", source="MONDO:equivalentTo", source="EFO:0007421"} xref: MeSH:D010304 xref: MONDO:0005898 xref: NCIT:C79702 {source="DOID:13117", source="MONDO:equivalentTo"} xref: SCTID:71906005 {source="DOID:13117", source="MONDO:equivalentTo"} xref: UMLS:C0030578 {source="DOID:13117", source="MONDO:equivalentTo", source="NCIT:C79702"} is_a: EFO:0000701 {source="EFO:0007421", source="MESH:D010304/inferred"} ! skin disease is_a: MONDO:0002884 {source="DOID:13117", source="MESH:D010304"} ! nail disorder property_value: exactMatch DOID:13117 property_value: exactMatch http://identifiers.org/mesh/D010304 property_value: exactMatch http://identifiers.org/snomedct/71906005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030578 property_value: exactMatch NCIT:C79702 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000589 "paronychia (disease)" xsd:string [Term] id: EFO:0007422 name: parotid disease def: "a disease in parotid gland" [] def: "A disease involving the parotid gland." [https://orcid.org/0000-0002-6601-2165] synonym: "disease of parotid gland" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of parotid gland" EXACT [] synonym: "disorder of parotid gland" EXACT [MONDO:patterns/location_top] synonym: "parotid disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "parotid gland disease" EXACT [MONDO:patterns/location] synonym: "parotid gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:10302 {source="MONDO:equivalentTo"} xref: MESH:D010305 {source="DOID:10302", source="MONDO:equivalentTo"} xref: MeSH:NoID xref: MONDO:0005899 xref: UMLS:C0030579 {source="DOID:10302", source="MONDO:equivalentTo"} is_a: EFO:0008581 {source="DOID:10302", source="EFO:0007422", source="MESH:D010305", source="MONDO:Entailed", source="MONDO:Redundant"} ! salivary gland disease property_value: exactMatch DOID:10302 property_value: exactMatch http://identifiers.org/mesh/D010305 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030579 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007423 name: parotitis def: "A parotid disease characterized by the inflammation of one or both parotid glands." [] def: "Inflammation of the parotid glands." [NCIT:P378] synonym: "inflammation of parotid gland" EXACT [] synonym: "parotid gland inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "Parotitis" EXACT [] synonym: "parotitis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:10301 {source="EFO:0007423", source="MONDO:equivalentTo"} xref: MedDRA:10034038 xref: MESH:D010309 {source="EFO:0007423", source="DOID:10301", source="MONDO:equivalentTo"} xref: MeSH:D010309 xref: MONDO:0005900 xref: NCIT:C114281 {source="DOID:10301", source="MONDO:equivalentTo"} xref: SCTID:14756005 {source="DOID:10301", source="MONDO:equivalentTo"} xref: UMLS:C0030583 {source="DOID:10301", source="MONDO:equivalentTo", source="NCIT:C114281"} is_a: EFO:0007422 {source="DOID:10301", source="EFO:0007423", source="MESH:D010309", source="MONDO:Entailed", source="MONDO:Redundant"} ! parotid disease is_a: EFO:0009903 {source="MONDO:Redundant"} ! inflammatory disease relationship: RO:0000056 GO:0006954 ! participates_in inflammatory response property_value: exactMatch DOID:10301 property_value: exactMatch http://identifiers.org/mesh/D010309 property_value: exactMatch http://identifiers.org/snomedct/14756005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030583 property_value: exactMatch NCIT:C114281 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007424 name: pasteurellosis def: "A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Pasteurella multocida, which is transmitted_by animal bite, scratch, or lick. The infection has_symptom joint pain has_symptom fever, has_symptom rigors, has_symptom pneumonia, has_symptom meningeal irritation, and has_symptom tachycardia." [] def: "Infections with bacteria of the genus pasteurella." [MESH:D010326] synonym: "Pasteurella caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Pasteurella disease or disorder" EXACT [] synonym: "Pasteurella infection" EXACT [DOID:11055] synonym: "Pasteurella Infections" EXACT [] synonym: "Pasteurella infectious disease" EXACT [DOID:11055] synonym: "pasteurellosis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:11055 {source="EFO:0007424", source="MONDO:equivalentTo"} xref: ICD10CM:A28.0 {source="MONDO:equivalentTo", source="DOID:11055"} xref: ICD9:027.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11055"} xref: MedDRA:10034113 xref: MESH:D010326 {source="EFO:0007424", source="MONDO:equivalentTo", source="DOID:11055"} xref: MeSH:D010326 xref: MONDO:0005901 xref: SCTID:83172007 {source="MONDO:equivalentTo", source="DOID:11055"} xref: UMLS:C0030636 {source="MONDO:equivalentTo", source="DOID:11055"} is_a: EFO:0000771 {source="DOID:11055/inferred", source="EFO:0007424", source="MESH:D010326/inferred", source="MONDO:Redundant"} ! bacterial disease property_value: exactMatch DOID:11055 property_value: exactMatch http://identifiers.org/mesh/D010326 property_value: exactMatch http://identifiers.org/snomedct/83172007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030636 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A28.0 property_value: excluded_subClassOf MONDO:0000314 {source="DOID:11055"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007425 name: peanut allergic reaction def: "A food allergy that is an allergy or hypersensitivity to dietary substances from peanuts causing an overreaction of the immune system which in a small percentage of people may lead to severe physical symptoms." [] synonym: "Allergy to peanuts (disorder)" EXACT [] synonym: "Peanut allergy" EXACT [] synonym: "Peanut Hypersensitivity" EXACT [] xref: DOID:4378 xref: MeSH:D021183 is_a: EFO:1001890 ! food allergy property_value: IAO:0000117 "Gautier Koscielny" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007426 name: pericardial tuberculosis def: "An extrapulmonary tuberculosis that is located_in pericardium resulting in acute pericarditis, chronic pericardial effusion, cardiac tamponade or pericardial constriction." [] def: "Inflammation of the sac surrounding the heart (pericardium) due to mycobacterium tuberculosis infection. Pericarditis can lead to swelling (pericardial effusion), compression of the heart (cardiac tamponade), and preventing normal beating of the heart." [MESH:D010495] synonym: "pericardial tuberculosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Pericarditis, Tuberculous" EXACT [] synonym: "tuberculous pericarditis" EXACT [DOID:4962] xref: DOID:4962 {source="EFO:0007426", source="MONDO:equivalentTo"} xref: ICD9:017.90 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D010495 {source="DOID:4962", source="EFO:0007426", source="MONDO:equivalentTo"} xref: MeSH:D010495 xref: MONDO:0005903 xref: SCTID:67256000 {source="DOID:4962", source="MONDO:equivalentTo"} xref: UMLS:C0031049 {source="DOID:4962", source="MONDO:equivalentTo"} is_a: EFO:0007427 ! pericarditis is_a: MONDO:0000368 {source="DOID:4962"} ! extrapulmonary tuberculosis relationship: EFO:0000784 UBERON:0002407 ! has_disease_location pericardium property_value: exactMatch DOID:4962 property_value: exactMatch http://identifiers.org/mesh/D010495 property_value: exactMatch http://identifiers.org/snomedct/67256000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031049 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007427 name: pericarditis def: "A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain." [] def: "An inflammatory process affecting the pericardium." [NCIT:P378] synonym: "inflammation of pericardium" EXACT [] synonym: "Pericarditis" EXACT [] synonym: "pericarditis" EXACT [] {comment="preferred label from MONDO"} synonym: "pericarditis" EXACT [MONDO:ambiguous] synonym: "pericarditis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "pericardium inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:1787 {source="EFO:0007427", source="MONDO:equivalentTo"} xref: HP:0001701 {source="MONDO:otherHierarchy"} xref: ICD10:I30 xref: ICD10:I31 xref: MedDRA:10034484 xref: MESH:D010493 {source="EFO:0007427", source="MONDO:equivalentTo", source="DOID:1787"} xref: MeSH:D010493 xref: MONDO:0005904 xref: NCIT:C34915 {source="MONDO:equivalentTo", source="DOID:1787"} xref: Orphanet:58208 {source="MONDO:equivalentObsolete"} xref: SCTID:3238004 {source="MONDO:equivalentTo", source="DOID:1787"} xref: UMLS:C0031046 {source="NCIT:C34915", source="MONDO:equivalentTo", source="DOID:1787"} is_a: EFO:0009903 ! inflammatory disease is_a: MONDO:0000474 {source="DOID:1787", source="MONDO:Redundant"} ! pericardium disorder property_value: exactMatch DOID:1787 property_value: exactMatch http://identifiers.org/mesh/D010493 property_value: exactMatch http://identifiers.org/snomedct/3238004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031046 property_value: exactMatch NCIT:C34915 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000589 "pericarditis (disease)" xsd:string [Term] id: EFO:0007428 name: periodic limb movement disorder def: "A sleep disorder that involves involuntary limb movement during sleep." [] def: "Excessive periodic leg movements during sleep that cause micro-arousals and interfere with the maintenance of sleep. This condition induces a state of relative sleep deprivation which manifests as excessive daytime hypersomnolence. The movements are characterized by repetitive contractions of the tibialis anterior muscle, extension of the toe, and intermittent flexion of the hip, knee and ankle. (Adams et al., Principles of Neurology, 6th ed, p387)" [MESH:D020189] synonym: "nocturnal myoclonus" EXACT [DOID:9207] synonym: "Nocturnal Myoclonus Syndrome" EXACT [] synonym: "periodic limb movement disorder" EXACT [] {comment="preferred label from MONDO"} xref: DOID:9207 {source="MONDO:equivalentTo", source="EFO:0007428"} xref: ICD10CM:G47.61 {source="DOID:9207", source="MONDO:equivalentTo"} xref: ICD9:327.51 {source="DOID:9207", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10064600 xref: MeSH:D020189 xref: MONDO:0005905 xref: SCTID:418763003 {source="DOID:9207", source="MONDO:equivalentTo"} xref: UMLS:C0751774 {source="DOID:9207", source="MONDO:equivalentTo"} is_a: EFO:0004280 ! movement disorder is_a: MONDO:0003406 {source="DOID:9207", source="ICD10CM:G47.61", source="MONDO:Redundant"} ! sleep-wake disorder property_value: exactMatch DOID:9207 property_value: exactMatch http://identifiers.org/snomedct/418763003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751774 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G47.61 property_value: excluded_subClassOf MONDO:0005084 {source="EFO:0007428"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007429 name: peritonsillar abscess def: "A tonsillitis which involves collection of pus beside the tonsil (peritonsillar space). It is caused by both aerobic and anaerobic bacteria. Commonly involved species include streptococci, staphylococci and hemophilus. Progressively worsening unilateral sore throat and pain during swallowing usually are the earliest symptoms. As the abscess develops, persistent pain in the peritonsillar area, fever, malaise, headache and a distortion of vowels informally known as \"\\hot potato voice\\\" may appear. Neck pain associated with tender, swollen lymph nodes, referred ear pain and halitosis are also common." [] def: "An abscess that develops in the space surrounding one or both palatine tonsils." [NCIT:C128322] synonym: "Peritonsillar Abscess" EXACT [] synonym: "Peritonsillar abscess" EXACT [] synonym: "peritonsillar abscess" EXACT [] {comment="preferred label from MONDO"} synonym: "Peritonsillar abscess (disorder)" EXACT [] synonym: "Quinsy" EXACT [] synonym: "quinsy" EXACT [NCIT:C128322] xref: DOID:12765 xref: ICD10:J36 xref: ICD10CM:J36 {source="MONDO:equivalentTo"} xref: ICD9:475 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10034686 xref: MESH:D000039 {source="EFO:0007429", source="MONDO:equivalentTo"} xref: MeSH:D000039 xref: MONDO:0005906 xref: NCIT:C128322 {source="MONDO:equivalentTo"} xref: SCTID:15033003 {source="MONDO:equivalentTo"} xref: UMLS:C0031157 {source="NCIT:C128322", source="MONDO:equivalentTo"} is_a: EFO:0000771 {source="EFO:0007429", source="MONDO:Redundant", source="MONDO:indirect"} ! bacterial disease is_a: EFO:0003030 {source="MESH:D000039", source="MONDO:Redundant", source="NCIT:C128322"} ! abscess is_a: MONDO:0020592 ! disorder of pharynx is_a: MONDO:0044986 ! lymphoid system disorder property_value: exactMatch http://identifiers.org/mesh/D000039 property_value: exactMatch http://identifiers.org/snomedct/15033003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031157 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/J36 property_value: exactMatch NCIT:C128322 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007430 name: persian gulf syndrome def: "A syndrome affecting returning military veterans and civilian workers of the Gulf War." [] def: "Unexplained symptoms reported by veterans of the Persian Gulf War with Iraq in 1991. The symptoms reported include fatigue, skin rash, muscle and joint pain, headaches, loss of memory, shortness of breath, gastrointestinal and respiratory symptoms, and extreme sensitivity to commonly occurring chemicals. (Nature 1994 May 5;369(6475):8)" [MESH:D018923] synonym: "Gulf war syndrome" EXACT [DOID:4491] synonym: "Gulf war syndrome (disorder)" EXACT [] synonym: "Persian Gulf Syndrome" EXACT [] synonym: "persian gulf syndrome" EXACT [] {comment="preferred label from MONDO"} xref: DOID:4491 {source="MONDO:equivalentTo", source="EFO:0007430"} xref: ICD9:300.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D018923 {source="MONDO:equivalentTo", source="DOID:4491", source="EFO:0007430"} xref: MeSH:D018923 xref: MONDO:0005907 xref: SCTID:95877004 {source="MONDO:equivalentTo", source="DOID:4491"} xref: UMLS:C0282550 {source="MONDO:equivalentTo", source="DOID:4491"} is_a: MONDO:0002254 {source="DOID:4491"} ! syndromic disease property_value: exactMatch DOID:4491 property_value: exactMatch http://identifiers.org/mesh/D018923 property_value: exactMatch http://identifiers.org/snomedct/95877004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0282550 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007431 name: peste des petits ruminants infectious disease def: "A viral infectious disease that results_in infection in ruminants, has_material_basis_in Peste-des-petits-ruminants virus, which is transmitted_by contact with oronasal and ocular secretions, urine, and feces. The infection results_in_formation_of lesions on the gums, lips and palate." [] synonym: "Goat plague" EXACT [] synonym: "Ovine rinderpest" EXACT [] synonym: "Peste-des-Petits-Ruminants" EXACT [] synonym: "PPR" EXACT [] synonym: "Pseudorinderpest" EXACT [] synonym: "Stomatitis-Pneumoenteritis Syndrome" EXACT [] xref: DOID:3532 xref: MeSH:D029021 is_a: EFO:0000763 ! viral disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007432 name: Pestivirus infectious disease def: "A viral infectious disease that results_in infection in mammals, has_material_basis_in Pestivirus, which is transmitted_by contact with nasal secretions of an infected animal. The infection has_symptom diarrhea, has_symptom respiratory problems, and has_symptom bleeding disorder." [] def: "Infections with viruses of the genus pestivirus, family flaviviridae." [MESH:D018182] synonym: "infection, Pestivirus" RELATED [MESH:D018182] synonym: "infections, Pestivirus" RELATED [MESH:D018182] synonym: "Pestivirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Pestivirus disease or disorder" EXACT [] synonym: "Pestivirus infection" RELATED [MESH:D018182] synonym: "Pestivirus Infections" EXACT [] synonym: "Pestivirus infectious disease" EXACT [] synonym: "pestivirus infectious disease" EXACT [] {comment="preferred label from MONDO"} xref: DOID:4274 xref: MESH:D018182 {source="MONDO:equivalentTo", source="EFO:0007432"} xref: MeSH:D018182 xref: MONDO:0005909 xref: UMLS:C0206611 {source="MONDO:equivalentTo"} is_a: EFO:0007274 ! Flaviviridae infectious disease property_value: exactMatch http://identifiers.org/mesh/D018182 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206611 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007433 name: phagocyte bactericidal dysfunction def: "A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection." [] def: "Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas." [MESH:D010585] synonym: "Phagocyte Bactericidal Dysfunction" EXACT [] synonym: "phagocyte bactericidal dysfunction" EXACT [] {comment="preferred label from MONDO"} synonym: "phagocytic dysfunction" EXACT [DOID:3262] xref: DOID:3262 {source="EFO:0007433", source="MONDO:equivalentTo"} xref: MESH:D010585 {source="EFO:0007433", source="MONDO:equivalentTo", source="DOID:3262"} xref: MeSH:D010585 xref: MONDO:0005910 xref: UMLS:C0031306 {source="MONDO:equivalentTo", source="DOID:3262"} is_a: MONDO:0003778 {source="DOID:3262", source="MESH:D010585"} ! inborn error of immunity is_a: MONDO:0004805 {source="MESH:D010585"} ! leukocyte disorder is_a: MONDO:0024627 ! phagocytic cell dysfunction property_value: exactMatch DOID:3262 property_value: exactMatch http://identifiers.org/mesh/D010585 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031306 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007434 name: pharyngoconjunctival fever def: "A condition characterized by fever, conjunctivitis, and pharyngitis resulting from infection by adenovirus." [NCIT:C34924] def: "A viral infectious disease that results_in infection located_in pharynx or located_in conjunctiva, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7, which are transmitted_by droplet spread of respiratory secretions or transmitted_by fomites. The infection has_symptom fever, has_symptom lymphadenopathy of the neck, and has_symptom headache." [] synonym: "Adenoviral pharyngoconjunctivitis" EXACT [DOID:13801] synonym: "Adenoviral pharyngoconjunctivitis (disorder)" EXACT [] synonym: "Adenovirus Infections, Human" EXACT [] synonym: "pharyngo-conjunctival fever" EXACT [DOID:13801] synonym: "Pharyngoconjunctival Fever" EXACT [] synonym: "Pharyngoconjunctival fever" EXACT [] synonym: "pharyngoconjunctival fever" EXACT [] {comment="preferred label from MONDO"} synonym: "pharyngoconjunctival fever" EXACT [DOID:13801, ICD9CM:077.2, NCIT:C34924] xref: DOID:13801 {source="EFO:0007434", source="MONDO:equivalentTo"} xref: ICD9:077.2 {source="DOID:13801", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10034842 xref: MESH:D000258 {source="EFO:0007434", source="DOID:13801", source="MONDO:equivalentTo"} xref: MeSH:D000258 xref: MONDO:0005911 xref: NCIT:C34924 {source="DOID:13801", source="MONDO:equivalentTo"} xref: SCTID:70385007 {source="DOID:13801", source="MONDO:equivalentTo"} xref: UMLS:C0031351 {source="NCIT:C34924", source="DOID:13801", source="MONDO:equivalentTo"} is_a: EFO:0000763 {source="DOID:13801", source="EFO:0007434", source="MESH:D000258/inferred", source="NCIT:C34924"} ! viral disease relationship: disease_has_feature EFO:0009450 ! conjunctivitis relationship: disease_has_feature MONDO:0002258 ! pharyngitis property_value: exactMatch DOID:13801 property_value: exactMatch http://identifiers.org/mesh/D000258 property_value: exactMatch http://identifiers.org/snomedct/70385007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031351 property_value: exactMatch NCIT:C34924 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007435 name: obsolete_pharynx property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.71" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use UBERON_0001042 chordate pharynx" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001042 [Term] id: EFO:0007436 name: phencyclidine abuse def: "A substance abuse that involves the recurring use of phencyclidine (PCP) drugs despite negative consequences." [] def: "The misuse of phencyclidine with associated psychological symptoms and impairment in social or occupational functioning." [MESH:D010623] synonym: "PCP abuse" EXACT [DOID:5062] synonym: "PCP abuse (disorder)" EXACT [] synonym: "Phencyclidine Abuse" EXACT [] synonym: "Phencyclidine abuse" EXACT [] synonym: "phencyclidine abuse" EXACT [DOID:5062] synonym: "phencyclidine abuse" EXACT [] {comment="preferred label from MONDO"} xref: DOID:5062 {source="EFO:0007436", source="MONDO:equivalentTo"} xref: ICD9:305.90 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D010623 {source="EFO:0007436", source="MONDO:equivalentTo", source="DOID:5062"} xref: MeSH:D010623 xref: MONDO:0005912 xref: SCTID:7071007 {source="MONDO:equivalentTo", source="DOID:5062"} is_a: EFO:0003890 {source="EFO:0007436"} ! drug dependence is_a: MONDO:0002491 {source="DOID:5062", source="MONDO:Redundant"} ! substance abuse property_value: exactMatch DOID:5062 property_value: exactMatch http://identifiers.org/mesh/D010623 property_value: exactMatch http://identifiers.org/snomedct/7071007 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007437 name: Phlebotomus fever def: "A viral infectious disease that results_in infection, has_material_basis_in Sandfly fever Naples virus, or has_material_basis_in Sandfly fever sicilian virus, which are transmitted_by Phlebotomus papatasi sandfly. The infection has_symptom fever, has_symptom severe frontal headaches, has_symptom muscle ache, has_symptom joint aches, has_symptom flushing of the face, and has_symptom tachycardia." [] def: "Influenza-like febrile viral disease caused by several members of the bunyaviridae family and transmitted mostly by the bloodsucking sandfly Phlebotomus papatasii." [MESH:D010217] synonym: "pappataci fever" EXACT [DOID:11360] synonym: "Phlebotomus Fever" EXACT [] synonym: "phlebotomus fever" EXACT [] {comment="preferred label from MONDO"} synonym: "Sandfly fever" EXACT [DOID:11360] synonym: "Sandfly-borne arboviral fever" EXACT [DOID:11360] synonym: "Sandfly-borne Bunyavirus fever" EXACT [DOID:11360] synonym: "Sandfly-borne bunyavirus fever (disorder)" EXACT [] synonym: "Sandfly-borne phleboviral disease" EXACT [DOID:11360] xref: DOID:11360 {source="EFO:0007437", source="MONDO:equivalentTo"} xref: ICD10CM:A93.1 {source="MONDO:equivalentTo", source="DOID:11360"} xref: ICD9:066.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11360"} xref: MedDRA:10034905 xref: MESH:D010217 {source="EFO:0007437", source="MONDO:equivalentTo", source="DOID:11360"} xref: MeSH:D010217 xref: MONDO:0005913 xref: SCTID:407476002 {source="MONDO:equivalentTo", source="DOID:11360"} xref: UMLS:C0030372 {source="MONDO:equivalentTo", source="DOID:11360"} is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease is_a: MONDO:0100329 ! primary viral infectious disease property_value: exactMatch DOID:11360 property_value: exactMatch http://identifiers.org/mesh/D010217 property_value: exactMatch http://identifiers.org/snomedct/407476002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030372 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A93.1 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007438 name: Picornaviridae infectious disease def: "A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Picornaviridae viruses." [] def: "Virus diseases caused by the picornaviridae." [MESH:D010850] synonym: "infections, Picornaviridae" RELATED [MONDO:patterns/infectious_disease_by_agent] synonym: "Picornaviridae infection" EXACT [MONDO:patterns/infectious_disease_by_agent] synonym: "Picornaviridae Infections" EXACT [] synonym: "Picornaviridae infectious disease" EXACT [] {comment="preferred label from MONDO"} xref: DOID:3668 xref: MESH:D010850 {source="EFO:0007438", source="MONDO:equivalentTo"} xref: MeSH:D010850 xref: MONDO:0005914 xref: UMLS:C0031887 {source="MONDO:equivalentTo"} is_a: MONDO:0100329 ! primary viral infectious disease property_value: exactMatch http://identifiers.org/mesh/D010850 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031887 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007439 name: pityriasis versicolor def: "A superficial mycosis that is a chronic, superficial fungal infection of the skin caused by Malassezia furfur, which is characterized by well-demarcated white, pink, fawn, or brownish lesions, often coalescing, and covered with thin furfuraceous scales." [] def: "A yeast infection usually manifested as a superficial skin infection. It may also present as a systemic infection in patients who are receiving total parenteral nutrition." [NCIT:C82981] synonym: "Infection by Pityrosporum furfur" EXACT [] synonym: "infection by Pityrosporum furfur" EXACT [DOID:9060] synonym: "infections, Malassezia furfur" RELATED [MONDO:patterns/infectious_disease_by_agent] synonym: "Malassezia furfur infection" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK7902, MONDO:patterns/infectious_disease_by_agent, NCIT:C82981] synonym: "pityriasis versicolor" EXACT [] {comment="preferred label from MONDO"} synonym: "Pityriasis versicolor (disorder)" EXACT [] synonym: "tinea flava" RELATED [] synonym: "Tinea Versicolor" EXACT [] synonym: "tinea versicolor" RELATED [MESH:D014010] xref: DOID:9060 {source="MONDO:equivalentTo", source="EFO:0007439"} xref: ICD10CM:B36.0 {source="DOID:9060", source="MONDO:equivalentTo"} xref: ICD9:111.0 {source="DOID:9060", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10035117 xref: MESH:D014010 {source="DOID:9060", source="MONDO:equivalentTo", source="EFO:0007439"} xref: MeSH:D014010 xref: MONDO:0005915 xref: NCIT:C82981 {source="DOID:9060", source="MONDO:equivalentTo"} xref: SCTID:56454009 {source="DOID:9060", source="MONDO:equivalentTo"} xref: UMLS:C0040262 {source="DOID:9060", source="MONDO:equivalentTo"} is_a: EFO:0007510 ! tinea is_a: EFO:1000697 {source="MONDO:cjm"} ! exanthem is_a: MONDO:0024268 {source="DOID:9060", source="https://www.ncbi.nlm.nih.gov/books/NBK7902"} ! superficial mycosis property_value: exactMatch DOID:9060 property_value: exactMatch http://identifiers.org/mesh/D014010 property_value: exactMatch http://identifiers.org/snomedct/56454009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040262 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B36.0 property_value: exactMatch NCIT:C82981 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007440 name: placenta accreta def: "A placenta disease that is characterized by an abnormally deep attachment of the placenta, through the endometrium and into the myometrium." [] def: "The clinical condition in which any part of the placenta invades and is inseparable from the uterine wall. (reVITALize)" [NCIT:C26856] synonym: "accreta, placenta" RELATED [MESH:D010921] synonym: "Increta, placenta" RELATED [MESH:D010921] synonym: "Percreta, placenta" RELATED [MESH:D010921] synonym: "Placenta Accreta" EXACT [] synonym: "placenta accreta" EXACT [] {comment="preferred label from MONDO"} synonym: "placenta Increta" RELATED [MESH:D010921] synonym: "placenta Percreta" RELATED [MESH:D010921] xref: DOID:4744 {source="MONDO:equivalentTo", source="EFO:0007440"} xref: MedDRA:10062936 xref: MESH:D010921 {source="MONDO:equivalentTo", source="DOID:4744", source="EFO:0007440"} xref: MeSH:D010921 xref: MONDO:0005916 xref: NCIT:C26856 {source="MONDO:equivalentTo", source="DOID:4744"} xref: SCTID:70129008 {source="MONDO:equivalentTo", source="DOID:4744"} is_a: EFO:0007441 {source="DOID:4744", source="EFO:0007440", source="MESH:D010921", source="NCIT:C26856/inferred"} ! placenta disease property_value: exactMatch DOID:4744 property_value: exactMatch http://identifiers.org/mesh/D010921 property_value: exactMatch http://identifiers.org/snomedct/70129008 property_value: exactMatch NCIT:C26856 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007441 name: placenta disease def: "A disease involving the placenta." [https://orcid.org/0000-0002-6601-2165] def: "a disease located in the placenta" [] synonym: "disease of placenta" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of placenta" EXACT [] synonym: "disease, placenta" RELATED [MESH:D010922] synonym: "disease, placental" RELATED [MESH:D010922] synonym: "diseases, placenta" RELATED [MESH:D010922] synonym: "diseases, placental" RELATED [MESH:D010922] synonym: "disorder of placenta" EXACT [MONDO:patterns/location_top] synonym: "disorder, placenta" RELATED [MESH:D010922] synonym: "disorders, placenta" RELATED [MESH:D010922] synonym: "placenta disease" EXACT [MESH:D010922, MONDO:patterns/location] synonym: "placenta disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "placenta diseases" EXACT [NCIT:C26857] synonym: "placenta disorder" EXACT [MESH:D010922, NCIT:C26857] synonym: "placenta disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "placenta disorders" EXACT [MESH:D010922, NCIT:C26857] synonym: "placental disease" RELATED [MESH:D010922] synonym: "placental diseases" RELATED [MESH:D010922] synonym: "placental disorder" EXACT [NCIT:C26857] xref: DOID:780 {source="MONDO:equivalentTo"} xref: ICD9:646.9 {source="DOID:780"} xref: ICD9:656.70 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D010922 {source="MONDO:equivalentTo", source="DOID:780"} xref: MeSH:NoID xref: MONDO:0005917 xref: NCIT:C26857 {source="MONDO:equivalentTo", source="DOID:780"} xref: SCTID:125586008 {source="MONDO:equivalentTo", source="DOID:780"} is_a: EFO:0009682 {source="MESH:D010922", source="NCIT:C26857"} ! pregnancy disorder is_a: MONDO:0002654 {source="DOID:780"} ! uterine disorder property_value: exactMatch DOID:780 property_value: exactMatch http://identifiers.org/mesh/D010922 property_value: exactMatch http://identifiers.org/snomedct/125586008 property_value: exactMatch NCIT:C26857 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007442 name: placenta praevia def: "A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix." [] def: "Abnormal placentation in which the placenta implants in the lower segment of the uterus (the zone of dilation) and may cover part or all of the opening of the cervix. It is often associated with serious antepartum bleeding and premature labor." [MESH:D010923] synonym: "placenta praevia" EXACT [MESH:D010923] synonym: "placenta praevia" EXACT [] {comment="preferred label from MONDO"} synonym: "Placenta Previa" EXACT [] synonym: "placenta previa" EXACT [NCIT:C26858] xref: DOID:11060 {source="MONDO:equivalentTo", source="EFO:0007442"} xref: ICD10:O44 xref: MedDRA:10035119 xref: MESH:D010923 {source="DOID:11060", source="MONDO:equivalentTo", source="EFO:0007442"} xref: MeSH:D010923 xref: MONDO:0005918 xref: NCIT:C26858 {source="DOID:11060", source="MONDO:equivalentTo"} xref: SCTID:36813001 {source="DOID:11060", source="MONDO:equivalentTo"} is_a: EFO:0007441 {source="DOID:11060", source="EFO:0007442", source="MESH:D010923", source="NCIT:C26858/inferred"} ! placenta disease property_value: exactMatch DOID:11060 property_value: exactMatch http://identifiers.org/mesh/D010923 property_value: exactMatch http://identifiers.org/snomedct/36813001 property_value: exactMatch NCIT:C26858 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007443 name: placental insufficiency def: "A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy." [] def: "Failure of the placenta to deliver an adequate supply of nutrients and oxygen to the fetus." [MESH:D010927] subset: ordo_clinical_syndrome {source="Orphanet:439167"} synonym: "insufficiency, placental" RELATED [MESH:D010927] synonym: "Placental Insufficiency" EXACT [] synonym: "placental insufficiency" EXACT [] {comment="preferred label from MONDO"} synonym: "uteroplacental vascular insufficiency" EXACT [Orphanet:439167] xref: DOID:3891 {source="MONDO:equivalentTo", source="EFO:0007443"} xref: ICD9:762.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10035138 xref: MESH:D010927 {source="DOID:3891", source="MONDO:equivalentTo", source="EFO:0007443"} xref: MeSH:D010927 xref: MONDO:0005919 xref: Orphanet:439167 {source="MONDO:equivalentTo"} xref: SCTID:237292005 {source="DOID:3891", source="MONDO:equivalentTo"} xref: UMLS:C0032051 {source="DOID:3891", source="MONDO:equivalentTo", source="Orphanet:439167"} is_a: EFO:0007441 {source="DOID:3891", source="EFO:0007443", source="MESH:D010927"} ! placenta disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015582"} ! rare property_value: exactMatch DOID:3891 property_value: exactMatch http://identifiers.org/mesh/D010927 property_value: exactMatch http://identifiers.org/snomedct/237292005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032051 property_value: exactMatch Orphanet:439167 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007444 name: Plasmodium falciparum malaria def: "A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever." [] def: "Malaria resulting from infection by Plasmodium falciparum." [NCIT:P378] synonym: "Falciparum Malaria" EXACT [] synonym: "falciparum malaria" EXACT [DOID:14067, NCIT:C34798] synonym: "Falciparum malaria (disorder)" EXACT [] synonym: "Falciparum malaria [malignant tertian]" EXACT [] synonym: "falciparum malaria [malignant tertian]" EXACT [DOID:14067, ICD9CM:084.0] synonym: "Malaria fever, subtertian" EXACT [] synonym: "malaria fever, subtertian" EXACT [DOID:14067] synonym: "Malaria, Falciparum" EXACT [] synonym: "malignant tertian fever" EXACT [DOID:14067] synonym: "malignant tertian fever (finding)" EXACT [DOID:14067] synonym: "Plasmodium falciparum malaria" EXACT [] {comment="preferred label from MONDO"} synonym: "Plasmodium falciparum malaria, unspecified" EXACT [DOID:14067] synonym: "Plasmodium falciparum malaria, unspecified (disorder)" EXACT [] xref: DOID:14067 {source="EFO:0007444", source="MONDO:equivalentTo"} xref: ICD10:B50 xref: ICD9:084.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14067"} xref: ICD9:084.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D016778 {source="EFO:0007444", source="MONDO:equivalentTo", source="DOID:14067"} xref: MeSH:D016778 xref: MONDO:0005920 xref: NCIT:C34798 {source="MONDO:equivalentTo", source="DOID:14067"} xref: SCTID:62676009 {source="MONDO:equivalentTo", source="DOID:14067"} xref: UMLS:C0024535 {source="MONDO:equivalentTo", source="DOID:14067", source="NCIT:C34798"} is_a: EFO:0001068 {source="DOID:14067", source="EFO:0007444", source="MESH:D016778", source="MONDO:Redundant", source="NCIT:C34798"} ! malaria property_value: exactMatch DOID:14067 property_value: exactMatch http://identifiers.org/mesh/D016778 property_value: exactMatch http://identifiers.org/snomedct/62676009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024535 property_value: exactMatch NCIT:C34798 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007445 name: Plasmodium vivax malaria def: "A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals." [] def: "Malaria resulting from infection by Plasmodium vivax." [NCIT:P378] synonym: "Malaria by Plasmodium vivax" EXACT [] synonym: "malaria by Plasmodium vivax" EXACT [DOID:12978] synonym: "Malaria, Vivax" EXACT [] synonym: "Plasmodium vivax malaria" EXACT [] {comment="preferred label from MONDO"} synonym: "Vivax Malaria" EXACT [] synonym: "vivax malaria" EXACT [DOID:12978, NCIT:C34800] synonym: "Vivax malaria (disorder)" EXACT [] synonym: "Vivax malaria [benign tertian]" EXACT [] xref: DOID:12978 {source="EFO:0007445", source="MONDO:equivalentTo"} xref: ICD10:B51 xref: ICD10CM:B51 {source="DOID:12978", source="MONDO:equivalentTo"} xref: ICD9:084.1 {source="DOID:12978", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D016780 {source="EFO:0007445", source="DOID:12978", source="MONDO:equivalentTo"} xref: MeSH:D016780 xref: MONDO:0005921 xref: NCIT:C34800 {source="DOID:12978", source="MONDO:equivalentTo"} xref: SCTID:27052006 {source="DOID:12978", source="MONDO:equivalentTo"} xref: UMLS:C0024537 {source="DOID:12978", source="MONDO:equivalentTo", source="NCIT:C34800"} is_a: EFO:0001068 {source="DOID:12978", source="EFO:0007445", source="MESH:D016780", source="MONDO:Redundant", source="NCIT:C34800"} ! malaria property_value: exactMatch DOID:12978 property_value: exactMatch http://identifiers.org/mesh/D016780 property_value: exactMatch http://identifiers.org/snomedct/27052006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024537 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B51 property_value: exactMatch NCIT:C34800 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007446 name: pleural tuberculosis def: "An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac." [] def: "Inflammation of the pleura secondary to an infection with Mycobacterium tuberculosis." [NCIT:P378] synonym: "pearly disease" EXACT [DOID:106] synonym: "Pearly disease (disorder)" EXACT [] synonym: "pleura tuberculosis" EXACT [MONDO:patterns/location] synonym: "pleural tuberculosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Tuberculosis of Pleura" EXACT [] synonym: "Tuberculosis of pleura" EXACT [] synonym: "tuberculosis of pleura" EXACT [DOID:106] synonym: "Tuberculosis of pleura (disorder)" EXACT [] synonym: "Tuberculosis of pleura (disorder) [Ambiguous]" EXACT [] synonym: "Tuberculosis, Pleural" EXACT [] synonym: "Tuberculous pleurisy" EXACT [] synonym: "tuberculous pleurisy" EXACT [DOID:106, ICD9CM:012.0] synonym: "tuberculous pleurisy in primary progressive tuberculosis" EXACT [DOID:106] synonym: "Tuberculous pleurisy NOS (disorder)" EXACT [] synonym: "Tuberculous pleurisy, unspecified examination" EXACT [] synonym: "tuberculous pleuritis" EXACT [DOID:106] synonym: "Tuberculous pleuritis (disorder)" EXACT [] xref: DOID:106 {source="EFO:0007446", source="MONDO:equivalentTo"} xref: ICD10CM:A15.6 {source="DOID:106", source="MONDO:equivalentTo"} xref: ICD9:010.1 {source="DOID:106"} xref: ICD9:010.10 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:010.12 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:010.16 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:012.0 {source="DOID:106"} xref: ICD9:012.00 {source="DOID:106"} xref: MESH:D014396 {source="DOID:106", source="EFO:0007446", source="MONDO:equivalentTo"} xref: MeSH:D014396 xref: MONDO:0005922 xref: NCIT:C26898 {source="DOID:106", source="MONDO:equivalentTo"} xref: SCTID:186172004 {source="DOID:106", source="MONDO:equivalentTo"} is_a: EFO:1001825 {source="NCIT:C26898"} ! pleurisy is_a: MONDO:0000368 {source="DOID:106"} ! extrapulmonary tuberculosis is_a: MONDO:0024355 ! respiratory tract infectious disorder property_value: exactMatch DOID:106 property_value: exactMatch http://identifiers.org/mesh/D014396 property_value: exactMatch http://identifiers.org/snomedct/186172004 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A15.6 property_value: exactMatch NCIT:C26898 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007447 name: Pneumocystis infectious disease def: "An opportunistic mycosis that has_material_basis_in Pneumocystis jirovecii, located_in lymph node, located_in spleen, located_in liver and located_in bone marrow, results_in_formation_of lesions." [] def: "Infections with species in the genus pneumocystis, a fungus causing interstitial plasma cell pneumonia (pneumonia, pneumocystis) and other infections in humans and other mammals. Immunocompromised patients, especially those with aids, are particularly susceptible to these infections. Extrapulmonary sites are rare but seen occasionally." [MESH:D016720] synonym: "Infection by Pneumocystis carinii (disorder)" EXACT [] synonym: "infections, Pneumocystis" RELATED [MONDO:patterns/infectious_disease_by_agent] synonym: "Pneumocystis infection" EXACT [MONDO:patterns/infectious_disease_by_agent] synonym: "Pneumocystis Infections" EXACT [] synonym: "Pneumocystis infectious disease" EXACT [] {comment="preferred label from MONDO"} xref: DOID:11340 xref: MESH:D016720 {source="EFO:0007447", source="MONDO:equivalentTo"} xref: MeSH:D016720 xref: MONDO:0005923 xref: UMLS:C0851886 {source="MONDO:equivalentTo"} is_a: MONDO:0002041 ! fungal infectious disease property_value: exactMatch http://identifiers.org/mesh/D016720 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0851886 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007448 name: pneumocystosis def: "An opportunistic mycosis that is located_in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has_symptom nonproductive cough, has_symptom shortness of breath, and has_symptom fever." [] def: "Human pneumocystosis is caused by an infectious agent, which (after recent nomenclature and taxonomy revisions) is now classed as the fungus Pneumocystis jiroveci. The prevalence is unknown. Pneumocystis jiroveci is an opportunistic infectious agent, developing in immunosuppressed patients. It is an air-borne infection, localized to the lungs. However, extrapulmonary involvement is seen in AIDS patients. The disease manifests progressively with coughing, respiratory problems (dyspnea) and fever, followed by acute respiratory insufficiency and death within a few weeks in untreated cases. The most reliable diagnostic method is bronchoalveolar lavage. The treatment of choice is cotrimoxazole." [https://rarediseases.info.nih.gov/diseases/4386/pneumocystosis] subset: gard_rare {source="GARD:0004386"} subset: ordo_disease {source="Orphanet:723"} synonym: "PCP" EXACT ABBREVIATION [NCIT:C3334] synonym: "PJP" EXACT ABBREVIATION [NCIT:C3334] synonym: "Pneumocystis" EXACT [NCIT:C3334] synonym: "Pneumocystis carinii pneumonia" EXACT [DOID:11339] synonym: "Pneumocystis jirovecii pneumonia" EXACT [DOID:11339] synonym: "Pneumocystis pneumonia" EXACT [DOID:11339] synonym: "Pneumocystosis" EXACT [] synonym: "pneumocystosis" EXACT [DOID:11339, ICD9CM:136.3] synonym: "pneumocystosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Pneumocystosis pneumonia" EXACT [] synonym: "pneumocystosis pneumonia" EXACT [DOID:11339] synonym: "Pneumonia, Pneumocystis" EXACT [] synonym: "pulmonary pneumocystosis" EXACT [DOID:11339] synonym: "pulmonary pneumocystosis (disorder)" EXACT [] xref: DOID:11339 {source="EFO:0007448", source="MONDO:equivalentTo"} xref: ICD10CM:B59 {source="DOID:11339", source="MONDO:equivalentTo"} xref: ICD10EXP:B59+ {source="Orphanet:723", source="Orphanet:723/e"} xref: ICD10EXP:J17.3* {source="Orphanet:723/ntbt", source="Orphanet:723"} xref: ICD9:136.3 {source="DOID:11339"} xref: MedDRA:10035662 xref: MESH:D011020 {source="DOID:11339", source="EFO:0007448", source="MONDO:equivalentTo"} xref: MeSH:D011020 xref: MONDO:0019121 xref: NCIT:C3334 {source="DOID:11339", source="MONDO:equivalentTo"} xref: Orphanet:723 {source="MONDO:equivalentTo"} xref: SCTID:415125002 {source="DOID:11339", source="MONDO:equivalentTo"} xref: UMLS:C1535939 {source="DOID:11339", source="Orphanet:723", source="MONDO:equivalentTo", source="NCIT:C3334"} is_a: EFO:0003106 {source="MESH:D011020", source="NCIT:C3334"} ! pneumonia is_a: EFO:0007278 ! fungal lung infectious disease is_a: EFO:0007447 ! Pneumocystis infectious disease is_a: MONDO:0002312 {source="DOID:11339"} ! opportunistic mycosis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015578"} ! rare property_value: exactMatch DOID:11339 property_value: exactMatch http://identifiers.org/mesh/D011020 property_value: exactMatch http://identifiers.org/snomedct/415125002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1535939 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B59 property_value: exactMatch NCIT:C3334 property_value: exactMatch Orphanet:723 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4386/pneumocystosis xsd:anyURI {source="GARD:0004386"} [Term] id: EFO:0007449 name: pneumonic pasteurellosis def: "A Pasteurella infectious disease that involves infection by the bacterium Mannheimia haemolytica and less frequently by Pasteurella multocida and Histophilus somni. After stress or viral infection, the replication rate of M. haemolytica in the upper respiratory tract increases rapidly, followed by inhalation and colonization of the lungs due to suppression of the host's defense mechanism. The bacterium produces exotoxin called leukotxin which interacts with the host's defense mechanism resulting in tissue damage with charactersistic necrosis, thrombosis, and exudation and the development of pneumonia." [] def: "Bovine respiratory disease found in animals that have been shipped or exposed to cattle recently transported. The major agent responsible for the disease is mannheimia haemolytica and less commonly, pasteurella multocida or haemophilus somnus. All three agents are normal inhabitants of the bovine nasal pharyngeal mucosa but not the lung. They are considered opportunistic pathogens following stress, physiological and/or a viral infection. The resulting bacterial fibrinous bronchopneumonia is often fatal." [MESH:D012766] synonym: "Pasteurellosis, Pneumonic" EXACT [] synonym: "Pneumonic pasteurellosis" EXACT [] synonym: "pneumonic pasteurellosis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:3730 xref: MESH:D012766 {source="EFO:0007449", source="MONDO:equivalentTo"} xref: MeSH:D012766 xref: MONDO:0005925 xref: UMLS:C0036969 {source="MONDO:equivalentTo"} is_a: EFO:0000771 {source="EFO:0007449", source="MESH:D012766/inferred"} ! bacterial disease property_value: exactMatch http://identifiers.org/mesh/D012766 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036969 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007450 name: poliomyelitis def: "A viral infectious disease that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, has_symptom muscle spasms, and has_symptom acute flaccid paralysis." [] def: "An acute infectious disorder that affects the nervous system. It is caused by the poliovirus. The virus spreads by direct contact, and can be prevented by prophylaxis with the polio vaccine." [NCIT:C35550] subset: ordo_disease {source="Orphanet:2912"} synonym: "acute poliomyelitis" EXACT [MONDO:cjm, NCIT:C35550] synonym: "infantile paralysis" RELATED [GARD:0007413] synonym: "Polia" EXACT [NCIT:C35550] synonym: "polio" EXACT [MESH:D011051, NCIT:C35550] synonym: "Poliomyelitis" EXACT [] synonym: "poliomyelitis" EXACT [MONDO:0005926, NCIT:C35550] synonym: "poliomyelitis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:4953 {source="MONDO:equivalentTo", source="EFO:0007450"} xref: ICD10:A80 xref: ICD9:045 {source="DOID:4953"} xref: ICD9:045.9 {source="DOID:4953"} xref: ICD9:045.90 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:045.92 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10036012 {source="Orphanet:2912/e", source="Orphanet:2912"} xref: MESH:D011051 {source="Orphanet:2912/e", source="MONDO:equivalentTo", source="DOID:4953", source="EFO:0007450", source="Orphanet:2912"} xref: MeSH:D011051 xref: MONDO:0017373 xref: NCIT:C35550 {source="MONDO:equivalentTo", source="DOID:4953"} xref: Orphanet:2912 {source="MONDO:equivalentTo"} xref: SCTID:398102009 {source="MONDO:equivalentTo", source="DOID:4953"} xref: UMLS:C0032371 {source="Orphanet:2912/e", source="NCIT:C35550", source="MONDO:equivalentTo", source="DOID:4953", source="Orphanet:2912"} is_a: EFO:1001472 {source="MESH:D011051"} ! Myelitis is_a: MONDO:0003182 {source="Wikipedia:Anterior_horn_disease"} ! anterior horn disorder is_a: MONDO:0020129 {source="Orphanet:2912"} ! acquired motor neuron disease is_a: MONDO:0020683 ! acute disease is_a: MONDO:0024318 {source="MONDO:Redundant"} ! viral infection of central nervous system is_a: MONDO:0024618 {source="MONDO:Redundant"} ! poliovirus infection property_value: closeMatch http://identifiers.org/meddra/10036012 property_value: exactMatch DOID:4953 property_value: exactMatch http://identifiers.org/mesh/D011051 property_value: exactMatch http://identifiers.org/snomedct/398102009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032371 property_value: exactMatch NCIT:C35550 property_value: exactMatch Orphanet:2912 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007451 name: Polyomavirus infectious disease def: "A Polyomaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomavirus, which cause respiratory symptoms, cystitis or skin cancer." [] def: "Infections with polyomavirus, which are often cultured from the urine of kidney transplant patients. Excretion of bk virus is associated with ureteral strictures and cystitis, and that of jc virus with progressive multifocal leukoencephalopathy (leukoencephalopathy, progressive multifocal)." [MESH:D027601] synonym: "Polyomavirus Infections" EXACT [] synonym: "polyomavirus infectious disease" EXACT [] {comment="preferred label from MONDO"} xref: DOID:647 xref: MESH:D027601 {source="MONDO:equivalentTo", source="EFO:0007451"} xref: MeSH:D027601 xref: MONDO:0005927 xref: UMLS:C0949804 {source="MONDO:equivalentTo"} is_a: MONDO:0100329 ! primary viral infectious disease property_value: exactMatch http://identifiers.org/mesh/D027601 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0949804 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007452 name: post-thrombotic syndrome def: "A condition caused by one or more episodes of DEEP VEIN THROMBOSIS, usually the blood clots are lodged in the legs. Clinical features include EDEMA; PAIN; aching; heaviness; and MUSCLE CRAMP in the leg. When severe leg swelling leads to skin breakdown, it is called venous STASIS ULCER." [] def: "A condition characterized by a chronically swollen limb, often a leg with stasis dermatitis and ulcerations. This syndrome can appear soon after phlebitis or years later. Postphlebitic syndrome is the result of damaged or incompetent venous valves in the limbs. Distended, tortuous varicose veins are usually present. Leg pain may occur after long period of standing." [MESH:D011186] def: "A venous insufficiency that is characterized by aching pain, heaviness, swelling, cramps, itching, or tingling in the affected limb and is a chronic complication of deep venous thrombosis." [] synonym: "post-thrombotic syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "postphlebetic syndrome with inflammation" EXACT [DOID:2364] synonym: "postphlebetic syndrome with ulcer" EXACT [DOID:2364] synonym: "postphlebetic syndrome with ulcer and inflammation" EXACT [DOID:2364] synonym: "postphlebitic syndrome" EXACT [DOID:2364] synonym: "Postthrombotic Syndrome" EXACT [] synonym: "venous stress disorder" EXACT [DOID:2364] xref: DOID:2364 {source="MONDO:equivalentTo", source="EFO:0007452"} xref: ICD10CM:I87.0 {source="DOID:2364", source="MONDO:equivalentTo"} xref: ICD9:459.1 {source="DOID:2364", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:459.10 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:459.11 {source="DOID:2364"} xref: ICD9:459.12 {source="DOID:2364"} xref: ICD9:459.13 {source="DOID:2364"} xref: MESH:D011186 {source="DOID:2364", source="MONDO:equivalentTo", source="EFO:0007452"} xref: MeSH:D054070 xref: MONDO:0005928 xref: SCTID:20427003 {source="DOID:2364", source="MONDO:equivalentTo"} is_a: MONDO:0000945 {source="DOID:2364", source="MESH:D011186"} ! venous insufficiency property_value: exactMatch DOID:2364 property_value: exactMatch http://identifiers.org/mesh/D011186 property_value: exactMatch http://identifiers.org/snomedct/20427003 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/I87.0 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007453 name: postpartum depression def: "A type of clinical depression that occurs after childbirth." [NCIT:P378] def: "An endogenous depression that involves intense, sustained and sometimes disabling depression experienced by women after giving birth." [] synonym: "depression, post-Natal" RELATED [MESH:D019052] synonym: "depression, post-partum" RELATED [MESH:D019052] synonym: "depression, postnatal" RELATED [MESH:D019052] synonym: "Depression, Postpartum" EXACT [] synonym: "depressive episode with postpartum onset" EXACT [NCIT:C92852] synonym: "major depressive episode with peripartum onset" EXACT [NCIT:C92852] synonym: "maternity blues" EXACT [DOID:9478] synonym: "Maternity blues (disorder)" EXACT [] synonym: "post Natal depression" RELATED [MESH:D019052] synonym: "post partum depression" RELATED [MESH:D019052] synonym: "post-Natal depression" RELATED [MESH:D019052] synonym: "post-partum depression" RELATED [MESH:D019052] synonym: "postnatal depression" EXACT [DOID:9478, MESH:D019052] synonym: "postpartum depression" EXACT [] {comment="preferred label from MONDO"} synonym: "postpartum depression" EXACT [MESH:D019052] xref: DOID:9478 {source="MONDO:equivalentTo", source="EFO:0007453"} xref: ICD10CM:F53 {source="MONDO:relatedTo", source="DOID:9478"} xref: MedDRA:10056393 xref: MESH:D019052 {source="MONDO:equivalentTo", source="DOID:9478", source="EFO:0007453"} xref: MeSH:D019052 xref: MONDO:0005929 xref: NCIT:C92852 {source="MONDO:equivalentTo", source="DOID:9478"} xref: SCTID:279225001 {source="MONDO:equivalentTo"} is_a: EFO:0003761 ! unipolar depression is_a: EFO:0009683 ! puerperal disorder is_a: MONDO:0002050 {source="DOID:9478/inferred", source="MESH:D019052", source="NCIT:C92852"} ! depressive disorder property_value: exactMatch DOID:9478 property_value: exactMatch http://identifiers.org/mesh/D019052 property_value: exactMatch http://identifiers.org/snomedct/279225001 property_value: exactMatch NCIT:C92852 property_value: excluded_subClassOf MONDO:0012048 {source="DOID:9478"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007454 name: postpoliomyelitis syndrome def: "A poliomyelitis that results_in atrophy located_in muscle, many years after the initial infection, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3. It is characterized by new weakening in muscles that were previously affected by the polio infection and in muscles that were unaffected. The infection has_symptom muscle weakness, has_symptom muscle pain, has_symptom sleep apnea, and has_symptom breathing problems." [] def: "Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis, 15-40 years after recovery from the disease, and that is unexplained by other medical causes. Other manifestations that can occur gradually include generalized fatigue, muscle atrophy, muscle and joint pain, intolerance to cold, and difficulties sleeping, swallowing or breathing." [Orphanet:2942] subset: ordo_disease {source="Orphanet:2942"} synonym: "polio late effects" RELATED [GARD:0004454] synonym: "post polio syndrome" RELATED [GARD:0004454] synonym: "post-polio muscular atrophy" RELATED [GARD:0004454] synonym: "post-polio sequelae" RELATED [GARD:0004454] synonym: "post-poliomyelitic syndrome" RELATED [GARD:0004454] synonym: "postpolio sequelae" EXACT [Orphanet:2942] synonym: "Postpolio syndrome" EXACT [] synonym: "postpolio syndrome" EXACT [DOID:4952, Orphanet:2942] synonym: "postpoliomyelitic syndrome" EXACT [Orphanet:2942] synonym: "postpoliomyelitis sequelae" EXACT [Orphanet:2942] synonym: "Postpoliomyelitis Syndrome" EXACT [] synonym: "postpoliomyelitis syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "postpoliomyelitis syndrome" EXACT [MONDO:0005930] xref: DOID:4952 {source="MONDO:equivalentTo", source="EFO:0007454"} xref: ICD10:G14 xref: MESH:D016262 {source="DOID:4952", source="MONDO:equivalentTo", source="EFO:0007454"} xref: MeSH:D016262 xref: MONDO:0017416 xref: Orphanet:2942 {source="MONDO:equivalentTo"} xref: SCTID:31097004 {source="DOID:4952", source="MONDO:equivalentTo"} xref: UMLS:C0080040 {source="DOID:4952", source="MONDO:equivalentTo", source="Orphanet:2942"} is_a: EFO:0007450 {source="DOID:4952", source="MESH:D016262"} ! poliomyelitis relationship: EFO:0000784 CL:0000187 ! has_disease_location muscle cell relationship: RO:0000056 EFO:1000096 ! participates_in Atrophy property_value: exactMatch DOID:4952 property_value: exactMatch http://identifiers.org/mesh/D016262 property_value: exactMatch http://identifiers.org/snomedct/31097004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0080040 property_value: exactMatch Orphanet:2942 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007455 name: progressive multifocal leukoencephalopathy def: "A viral infectious disease that involves reactivation of JC polyomavirus in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the surrounds and protects nerve fibers) in multiple areas of the brain. The symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma." [] def: "Progressive multifocal leukoencephalopathy (PML) is a neurological disorder that damages the myelin that covers and protects nerves in the white matter of the brain. It is caused by the JC virus (JCV). By age 10, most people have been infected with this virus, but itrarelycauses symptoms unless the immune system becomes severely weakened.The disease occurs, rarely, in organ transplant patients; people undergoing chronic corticosteroid or immunosuppressive therapy; and individuals with cancer, such as Hodgkins disease, lymphoma, and sarcoidosis. PML is most common among individuals with acquired immune deficiency syndrome (AIDS)." [https://rarediseases.info.nih.gov/diseases/7468/progressive-multifocal-leukoencephalopathy] subset: gard_rare {source="GARD:0007468"} subset: ordo_disease {source="Orphanet:217260"} synonym: "Leukoencephalopathy, Progressive Multifocal" EXACT [] synonym: "leukoencephalopathy, progressive multifocal" RELATED [GARD:0007468] synonym: "PML" EXACT ABBREVIATION [DOID:643, Orphanet:217260] synonym: "progressive multifocal leukoencephalitis" EXACT [Orphanet:217260] synonym: "progressive multifocal leukoencephalopathy" EXACT [] {comment="preferred label from MONDO"} xref: DOID:643 {source="EFO:0007455", source="MONDO:equivalentTo"} xref: ICD10CM:A81.2 {source="DOID:643", source="MONDO:equivalentTo", source="Orphanet:217260", source="Orphanet:217260/e"} xref: ICD9:046.3 {source="DOID:643", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10036807 {source="Orphanet:217260", source="Orphanet:217260/e"} xref: MESH:D007968 {source="DOID:643", source="EFO:0007455", source="MONDO:equivalentTo", source="Orphanet:217260", source="Orphanet:217260/e"} xref: MeSH:D007968 xref: MONDO:0016318 xref: NCIT:C26815 {source="DOID:643", source="MONDO:equivalentTo"} xref: Orphanet:217260 {source="MONDO:equivalentTo"} xref: SCTID:22255007 {source="DOID:643", source="MONDO:equivalentTo"} xref: UMLS:C0023524 {source="DOID:643", source="MONDO:equivalentTo", source="Orphanet:217260", source="Orphanet:217260/e", source="NCIT:C26815"} is_a: EFO:0000763 ! viral disease is_a: MONDO:0020067 {source="MESH:D007968/inferred", source="Orphanet:217260"} ! infectious encephalitis property_value: closeMatch http://identifiers.org/meddra/10036807 property_value: exactMatch DOID:643 property_value: exactMatch http://identifiers.org/mesh/D007968 property_value: exactMatch http://identifiers.org/snomedct/22255007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023524 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A81.2 property_value: exactMatch NCIT:C26815 property_value: exactMatch Orphanet:217260 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7468/progressive-multifocal-leukoencephalopathy xsd:anyURI {source="GARD:0007468"} [Term] id: EFO:0007456 name: pseudomyxoma peritonei def: "An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis." [] synonym: "mucinous Ascites" EXACT [] synonym: "Pseudomyxoma Peritonei" EXACT [] synonym: "Pseudomyxoma peritonei (disorder)" EXACT [] synonym: "Pseudomyxoma peritonei (morphologic abnormality)" EXACT [] xref: DOID:3559 xref: MedDRA:10037138 xref: MeSH:D011553 is_a: EFO:0003880 ! appendiceal neoplasm property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007457 name: pseudorabies def: "A highly contagious herpesvirus infection affecting the central nervous system of swine, cattle, dogs, cats, rats, and other animals." [MESH:D011557] def: "A Varicellovirus infectious disease that results_in infection located_in peripheral nervous system in swine, cattle, sheep, dogs and raccoons, has_material_basis_in Suid herpesvirus 1 and has_symptom abortion, has_symptom coughing, has_symptom sneezing, has_symptom fever, has_symptom constipation, has_symptom depression, has_symptom seizures, has_symptom ataxia, has_symptom circling, has_symptom excess salivation in piglets, and has_symptom intense itching in cattle." [] synonym: "Aujeszky's disease" EXACT [] synonym: "mad itch" EXACT [] synonym: "Pseudorabies" EXACT [] synonym: "pseudorabies" EXACT [] {comment="preferred label from MONDO"} xref: DOID:3902 xref: MESH:D011557 {source="EFO:0007457", source="MONDO:equivalentTo"} xref: MeSH:D011557 xref: MONDO:0005932 xref: UMLS:C0033839 {source="MONDO:equivalentTo"} is_a: EFO:0000763 {source="EFO:0007457", source="MESH:D011557/inferred"} ! viral disease is_a: EFO:0009387 ! peripheral nervous system disease property_value: exactMatch http://identifiers.org/mesh/D011557 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033839 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007458 name: pulmonary blastoma def: "A malignant neoplasm of the lung composed of tubular structures and immature mesenchymal elements, which may differentiate towards skeletal and smooth muscle, cartilage or a combination of muscle and cartilage. This is a nodular tumor found in the periphery of the lung. It can occur at any age. The prognosis is related to the stage of the disease at the time of resection. Pulmonary blastoma is divided into two subtypes: epithelial predominant and biphasic." [NCIT:C3732] subset: ordo_disease {source="Orphanet:64741"} synonym: "blastoma of lung" EXACT [DOID:4765, NCIT:C3732] synonym: "blastoma of the lung" EXACT [NCIT:C3732] synonym: "lung blastoma" EXACT [MONDO:patterns/location, NCIT:C3732] synonym: "Pneumoblastoma" EXACT [NCIT:C3732, Orphanet:64741] synonym: "pulmonary blastoma" EXACT [NCIT:C3732] synonym: "pulmonary blastoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "pulmonary blastoma" EXACT [] {comment="preferred label from MONDO"} xref: DOID:4765 {source="EFO:0007458", source="MONDO:equivalentTo"} xref: EFO:0007458 {source="MONDO:equivalentTo"} xref: ICD10:C34.1 {source="Orphanet:64741", source="ORDO:64741/nd"} xref: ICD10:C34.2 {source="Orphanet:64741", source="ORDO:64741/nd"} xref: ICD10:C34.3 {source="Orphanet:64741", source="ORDO:64741/nd"} xref: ICD10:C34.8 {source="Orphanet:64741", source="ORDO:64741/nd"} xref: ICD10:C34.9 {source="Orphanet:64741", source="ORDO:64741/nd"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8972/3 {source="NCIT:C3732"} xref: MESH:D018202 {source="EFO:0007458", source="Orphanet:64741", source="DOID:4765", source="MONDO:equivalentTo", source="ORDO:64741/e"} xref: MESH:D018202 {source="EFO:0007458", source="Orphanet:64741", source="DOID:4765", source="MONDO:equivalentTo", source="Orphanet:64741/e"} xref: MONDO:0005933 xref: NCIT:C3732 {source="DOID:4765", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C3732 {source="DOID:4765", source="MONDO:equivalentTo", source="exact-label-match"} xref: Orphanet:64741 {source="MONDO:equivalentTo"} xref: SCTID:189815007 {source="DOID:4765", source="MONDO:equivalentTo"} xref: UMLS:C0206629 {source="Orphanet:64741", source="DOID:4765", source="MONDO:equivalentTo", source="Orphanet:64741/e", source="NCIT:C3732"} xref: UMLS:C0206629 {source="Orphanet:64741", source="DOID:4765", source="MONDO:equivalentTo", source="NCIT:C3732", source="ORDO:64741/e"} is_a: EFO:0005785 {source="DOID:4765", source="MONDO:Redundant", source="NCIT:C3732"} ! blastoma is_a: EFO:1000336 {source="NCIT:C3732"} ! Lung Sarcomatoid Carcinoma property_value: closeMatch http://identifiers.org/snomedct/43149009 property_value: exactMatch DOID:4765 property_value: exactMatch DOID:4765 property_value: exactMatch http://identifiers.org/mesh/D018202 property_value: exactMatch http://identifiers.org/mesh/D018202 property_value: exactMatch http://identifiers.org/snomedct/189815007 property_value: exactMatch http://identifiers.org/snomedct/189815007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206629 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206629 property_value: exactMatch NCIT:C3732 property_value: exactMatch NCIT:C3732 property_value: exactMatch Orphanet:64741 [Term] id: EFO:0007459 name: pyruvate decarboxylase deficiency def: "A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex." [] synonym: "deficiency of pyruvic dehydrogenase" EXACT [] synonym: "Pyruvate Dehydrogenase Complex Deficiency Disease" EXACT [] synonym: "pyruvate dehydrogenase complex deficiency disease" EXACT [] synonym: "pyruvate dehydrogenase deficiency" EXACT [] xref: DOID:3649 xref: MeSH:D015325 is_a: Orphanet:79161 ! Disorder of carbohydrate metabolism property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007460 name: reactive arthritis def: "An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body." [] def: "Reactive arthritis (ReA) is an autoimmune disorder belonging to the group of seronegative spondyloarthropathies and is characterized by the classic triad of arthritis, urethritis and conjunctivitis." [Orphanet:29207] subset: gard_rare {source="GARD:0005693"} subset: ordo_disease {source="Orphanet:29207"} synonym: "arthritis urethritica" EXACT [Orphanet:29207] synonym: "Arthritis, Reactive" EXACT [] synonym: "Fiessinger Leroy Reiter syndrome" EXACT DEPRECATED [DOID:6196] synonym: "Fiessinger-Leroy disease" EXACT [Orphanet:29207] synonym: "Fiessinger-Leroy-Reiter syndrome" EXACT DEPRECATED [Orphanet:29207] synonym: "PIRA" RELATED ABBREVIATION [GARD:0005693] synonym: "polyarthritis enterica" EXACT [Orphanet:29207] synonym: "Post-bacterial arthropathy" EXACT [] synonym: "post-bacterial arthropathy" EXACT [DOID:6196] synonym: "post-infectious arthritis" RELATED [GARD:0005693] synonym: "post-infectious reactive arthropathy" RELATED [GARD:0005693] synonym: "postdysenteric arthropathy" EXACT [DOID:6196] synonym: "Reactive arthritis" EXACT [] synonym: "reactive arthritis" EXACT [] {comment="preferred label from MONDO"} synonym: "reactive arthritis" EXACT [DOID:6196] synonym: "Reiter disease" EXACT DEPRECATED [DOID:6196, Orphanet:29207] synonym: "Reiter syndrome" EXACT DEPRECATED [Orphanet:29207] synonym: "Reiter's disease" EXACT DEPRECATED [DOID:6196, ICD9CM:099.3] synonym: "Reiter's syndrome" EXACT DEPRECATED [GARD:0005693] synonym: "venereal arthritis" EXACT [Orphanet:29207] xref: DOID:6196 {source="MONDO:equivalentTo", source="EFO:0007460"} xref: ICD10:M03 xref: ICD9:099.3 {source="DOID:6196"} xref: ICD9:711.3 {source="DOID:6196"} xref: ICD9:711.30 {source="DOID:6196"} xref: ICD9:711.40 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10003267 {source="Orphanet:29207/e", source="Orphanet:29207"} xref: MedDRA:10037994 xref: MedDRA:10038294 {source="Orphanet:29207/e", source="Orphanet:29207"} xref: MESH:D016918 {source="Orphanet:29207/e", source="MONDO:equivalentTo", source="DOID:6196", source="EFO:0007460", source="Orphanet:29207"} xref: MeSH:D016918 xref: MONDO:0017376 xref: NCIT:C128332 {source="MONDO:equivalentTo"} xref: Orphanet:29207 {source="MONDO:equivalentTo"} xref: SCTID:129133005 {source="MONDO:equivalentTo"} xref: UMLS:C0035012 {source="Orphanet:29207/e", source="MONDO:equivalentTo", source="DOID:6196", source="Orphanet:29207"} xref: UMLS:C0085435 {source="NCIT:C128332", source="Orphanet:29207/e", source="MONDO:equivalentTo", source="Orphanet:29207"} xref: UMLS:CN203069 {source="MONDO:equivalentTo"} is_a: EFO:0005140 ! autoimmune disease is_a: EFO:0005755 {source="Orphanet:29207"} ! rheumatic disease is_a: EFO:0005856 {source="DOID:6196", source="EFO:0007460", source="MESH:D016918/inferred", source="NCIT:C128332"} ! arthritis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015940"} ! rare property_value: closeMatch http://identifiers.org/meddra/10003267 property_value: closeMatch http://identifiers.org/meddra/10038294 property_value: exactMatch DOID:6196 property_value: exactMatch http://identifiers.org/mesh/D016918 property_value: exactMatch http://identifiers.org/snomedct/129133005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035012 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085435 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203069 property_value: exactMatch NCIT:C128332 property_value: exactMatch Orphanet:29207 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5693/reactive-arthritis xsd:anyURI {source="GARD:0005693"} [Term] id: EFO:0007461 name: recurrent pneumonia def: "Infections with nontuberculous mycobacteria (atypical mycobacteria): M. kansasii, M. marinum, M. scrofulaceum, M. flavescens, M. gordonae, M. obuense, M. gilvum, M. duvali, M. szulgai, M. intracellulare (see mycobacterium avium complex;), M. xenopi (littorale), M. ulcerans, M. buruli, M. terrae, M. fortuitum (minetti, giae), M. chelonae." [MESH:D009165] def: "recurrent pneumonia due to nontuberculous mycobacterium infections" [] synonym: "Mycobacterium Infections, Nontuberculous" EXACT [] synonym: "recurrent pneumonia" EXACT [] {comment="preferred label from MONDO"} synonym: "recurrent pneumonia" EXACT [MONDO:ambiguous] synonym: "recurrent pneumonia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:412 xref: HP:0006532 {source="MONDO:otherHierarchy"} xref: MeSH:D009165 xref: MONDO:0005936 xref: SCTID:699014000 {source="MONDO:equivalentTo"} is_a: EFO:0003106 {source="EFO:0007461"} ! pneumonia is_a: EFO:0009429 ! Mycobacterium infection property_value: exactMatch http://identifiers.org/snomedct/699014000 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000589 "recurrent pneumonia (disease)" xsd:string [Term] id: EFO:0007462 name: REM sleep behavior disorder def: "A disorder characterized by episodes of vigorous and often violent motor activity during rem sleep (sleep, rem). The affected individual may inflict self injury or harm others, and is difficult to awaken from this condition. Episodes are usually followed by a vivid recollection of a dream that is consistent with the aggressive behavior. This condition primarily affects adult males. (From Adams et al., Principles of Neurology, 6th ed, p393)" [MESH:D020187] def: "A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement." [] synonym: "Rapid eye movement sleep behavior disorder" EXACT [] synonym: "rapid eye movement sleep behavior disorder" EXACT [DOID:9091] synonym: "rapid eye movement sleep behaviour disorder" EXACT OMO:0003005 [] synonym: "REM Sleep Behavior Disorder" EXACT [] synonym: "REM sleep behavior disorder" EXACT [] {comment="preferred label from MONDO"} xref: DOID:9091 {source="MONDO:equivalentTo", source="EFO:0007462"} xref: ICD10CM:G47.52 {source="DOID:9091", source="MONDO:equivalentTo"} xref: ICD9:327.42 {source="DOID:9091", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:780.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10078725 xref: MESH:D020187 {source="DOID:9091", source="MONDO:equivalentTo", source="EFO:0007462"} xref: MeSH:D020187 xref: MONDO:0005937 xref: SCTID:415238003 {source="DOID:9091", source="MONDO:equivalentTo"} is_a: MONDO:0003406 {source="DOID:9091", source="EFO:0007462", source="ICD10CM:G47.52", source="MESH:D020187/inferred", source="MONDO:Redundant"} ! sleep-wake disorder property_value: exactMatch DOID:9091 property_value: exactMatch http://identifiers.org/mesh/D020187 property_value: exactMatch http://identifiers.org/snomedct/415238003 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G47.52 property_value: excluded_subClassOf MONDO:0005084 {source="EFO:0007462"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007463 name: renal tuberculosis def: "An urogenital tuberculosis that results_in formation of granulomas located_in kidney." [] def: "Infection of the kidney due to mycobacteria." [NCIT:P378] synonym: "kidney tuberculosis" EXACT [MONDO:patterns/location] synonym: "renal tuberculosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Tuberculosis of kidney" EXACT [] synonym: "tuberculosis of kidney" EXACT [DOID:9733, ICD9CM:016.0] synonym: "Tuberculosis, Renal" EXACT [] xref: DOID:9733 {source="MONDO:equivalentTo", source="EFO:0007463"} xref: ICD9:016.0 {source="DOID:9733"} xref: ICD9:016.00 {source="DOID:9733", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10038534 xref: MESH:D014398 {source="DOID:9733", source="MONDO:equivalentTo", source="EFO:0007463"} xref: MeSH:D014398 xref: MONDO:0005938 xref: NCIT:C123020 {source="DOID:9733", source="MONDO:equivalentTo"} xref: SCTID:44323002 {source="DOID:9733", source="MONDO:equivalentTo"} xref: UMLS:C0041328 {source="DOID:9733", source="NCIT:C123020", source="MONDO:equivalentTo"} is_a: EFO:0003086 {source="DOID:9733", source="MESH:D014398", source="MONDO:Redundant"} ! kidney disease is_a: EFO:0007531 {source="DOID:9733", source="MESH:D014398", source="MONDO:Redundant"} ! urogenital tuberculosis is_a: MONDO:0000369 ! abdominal tuberculosis is_a: MONDO:0005247 ! bacterial urinary tract infection property_value: exactMatch DOID:9733 property_value: exactMatch http://identifiers.org/mesh/D014398 property_value: exactMatch http://identifiers.org/snomedct/44323002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041328 property_value: exactMatch NCIT:C123020 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007464 name: Reoviridae infectious disease def: "A dsRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Reoviridae viruses." [] def: "Infections produced by reoviruses, general or unspecified." [MESH:D012088] synonym: "disease due to Orthoreovirus" EXACT [] synonym: "disease due to Reoviridae (disorder)" EXACT [] synonym: "disease due to Reovirus (disorder)" EXACT [] synonym: "infection, Reoviridae" RELATED [MESH:D012088] synonym: "infection, Reovirus" RELATED [MESH:D012088] synonym: "infections, Reoviridae" RELATED [MESH:D012088] synonym: "infections, Reovirus" RELATED [MESH:D012088] synonym: "Reoviridae disease" EXACT [] synonym: "Reoviridae infection" RELATED [MESH:D012088] synonym: "Reoviridae Infections" EXACT [] synonym: "Reoviridae infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Reovirus infection" RELATED [MESH:D012088] synonym: "Reovirus infections" RELATED [MESH:D012088] xref: DOID:1334 xref: MESH:D012088 {source="MONDO:equivalentTo", source="EFO:0007464"} xref: MeSH:D012088 xref: MONDO:0005939 xref: UMLS:C0035112 {source="MONDO:equivalentTo"} is_a: EFO:0000763 {source="EFO:0007464", source="MESH:D012088/inferred", source="MONDO:Redundant"} ! viral disease property_value: exactMatch http://identifiers.org/mesh/D012088 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035112 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007465 name: Respirovirus infectious disease def: "A Paramyxoviridae infectious disease that results_in infection, has_material_basis_in Respirovirus, which is transmitted_by contact with the respiratory secretions of an infected person." [] def: "Infections with viruses of the genus respirovirus, family paramyxoviridae. Host cell infection occurs by adsorption, via hemagglutinin, to the cell surface." [MESH:D010253] synonym: "disease due to Paramyxovirus (disorder)" EXACT [] synonym: "infections, Respirovirus" RELATED [MESH:D010253] synonym: "Respirovirus Infections" EXACT [] synonym: "respirovirus infectious disease" EXACT [] {comment="preferred label from MONDO"} xref: DOID:3729 xref: MESH:D010253 {source="MONDO:equivalentTo", source="EFO:0007465"} xref: MeSH:D010253 xref: MONDO:0005940 xref: UMLS:C3714630 {source="MONDO:equivalentTo"} is_a: EFO:0007419 ! Paramyxoviridae infectious disease property_value: exactMatch http://identifiers.org/mesh/D010253 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3714630 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007466 name: retroperitoneal cancer def: "A primary or metastatic malignant neoplasm involving the retroperitoneum. The vast majority of cases are carcinomas, lymphomas, or sarcomas." [NCIT:P378] synonym: "cancer of retroperitoneal space" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of retroperitoneal space" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of retroperitoneum" RELATED [DOID:5875, ICD9CM:158.0] synonym: "malignant neoplasm of retroperitoneum" RELATED [DOID:5875, ICD9CM_2006:158.0] synonym: "malignant neoplasm of retroperitoneum and peritoneum" EXACT [DOID:5875, ICD9CM_2006:158] synonym: "malignant neoplasm of retroperitoneum and peritoneum" EXACT [DOID:5875, ICD9CM:158] synonym: "malignant retroperitoneal cancer" RELATED [DOID:5875] synonym: "malignant retroperitoneal neoplasm" EXACT [NCIT:C3537] synonym: "malignant retroperitoneal space neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of peritoneum and retroperitoneum" EXACT [DOID:5875] synonym: "malignant tumour of peritoneum and retroperitoneum" EXACT OMO:0003005 [] synonym: "neoplasm of retroperitoneum" BROAD [DOID:5875] synonym: "neoplasm of retroperitoneum" EXACT [DOID:5875] synonym: "neoplasm of the retroperitoneum" BROAD [DOID:5875] synonym: "neoplasm of the retroperitoneum" EXACT [DOID:5875] synonym: "retroperitoneal cancer" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "retroperitoneal cancer" EXACT [] {comment="preferred label from MONDO"} synonym: "retroperitoneal neoplasm" BROAD [DOID:5875, NCIT:C3357] synonym: "retroperitoneal neoplasm" EXACT [CSP2005:2005-3788, DOID:5875, NCIT:C3357] synonym: "retroperitoneal space cancer" EXACT [] synonym: "tumor of retroperitoneum" BROAD [DOID:5875] synonym: "tumor of retroperitoneum" EXACT [DOID:5875] synonym: "tumour of retroperitoneum" BROAD OMO:0003005 [] xref: DOID:5875 {source="EFO:0007466", source="MONDO:equivalentTo"} xref: EFO:0007466 {source="MONDO:equivalentTo"} xref: ICD10:C48 {source="DOID:5875"} xref: ICD10:C48.0 {source="DOID:5875"} xref: ICD9:158 {source="DOID:5875"} xref: ICD9:158.0 {source="DOID:5875"} xref: MESH:D012186 {source="EFO:0007466", source="DOID:5875", source="MONDO:equivalentTo"} xref: MONDO:0005941 xref: NCIT:C3357 {source="MONDO:relatedTo", source="DOID:5875"} xref: NCIT:C3537 {source="DOID:5875", source="MONDO:equivalentTo"} xref: SCTID:126872008 {source="DOID:5875", source="MONDO:equivalentTo"} is_a: MONDO:0004992 {source="DOID:5875", source="DOID:5875/inferred", source="EFO:0007466/inferred", source="MONDO:Redundant"} ! cancer is_a: MONDO:0024645 ! retroperitoneal neoplasm property_value: closeMatch http://identifiers.org/snomedct/187801002 property_value: closeMatch http://identifiers.org/snomedct/187805006 property_value: closeMatch http://identifiers.org/snomedct/187817008 property_value: closeMatch http://identifiers.org/snomedct/254617008 property_value: closeMatch http://identifiers.org/snomedct/359767009 property_value: closeMatch http://identifiers.org/snomedct/359770008 property_value: closeMatch http://identifiers.org/snomedct/363420003 property_value: closeMatch http://identifiers.org/snomedct/94092006 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0035358 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153464 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153465 property_value: exactMatch DOID:5875 property_value: exactMatch DOID:5875 property_value: exactMatch http://identifiers.org/mesh/D012186 property_value: exactMatch http://identifiers.org/mesh/D012186 property_value: exactMatch http://identifiers.org/snomedct/126872008 property_value: exactMatch http://identifiers.org/snomedct/126872008 property_value: exactMatch NCIT:C3537 property_value: exactMatch NCIT:C3537 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/cancer.yaml [Term] id: EFO:0007467 name: Reye syndrome def: "A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use." [] def: "An acute and potentially fatal metabolic disorder characterized by cerebral edema, fatty liver and hypoglycemia. It occurs primarily in children and has been associated with the use of aspirin for the treatment of viral infections. However, it can also occur in the absence of aspirin use." [NCIT:C34983] subset: ordo_disease {source="Orphanet:3096"} synonym: "Reye Syndrome" EXACT [] synonym: "Reye syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Reye's syndrome" EXACT [DOID:14525] synonym: "Reye's syndrome (disorder)" EXACT [] xref: DOID:14525 {source="EFO:0007467", source="MONDO:equivalentTo"} xref: ICD9:331.81 {source="DOID:14525", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10039012 {source="Orphanet:3096/e", source="Orphanet:3096"} xref: MESH:D012202 {source="EFO:0007467", source="DOID:14525", source="Orphanet:3096/e", source="MONDO:equivalentTo", source="Orphanet:3096"} xref: MeSH:D012202 xref: MONDO:0005942 xref: NCIT:C34983 {source="DOID:14525", source="MONDO:equivalentTo"} xref: Orphanet:3096 {source="MONDO:equivalentTo"} xref: SCTID:74351001 {source="DOID:14525", source="MONDO:equivalentTo"} xref: UMLS:C0035400 {source="DOID:14525", source="Orphanet:3096/e", source="MONDO:equivalentTo", source="NCIT:C34983", source="Orphanet:3096"} is_a: EFO:0005755 {source="https://orcid.org/0000-0002-1780-5230"} ! rheumatic disease is_a: EFO:0005774 {source="EFO:0007467", source="MESH:D012202/inferred"} ! brain disease is_a: MONDO:0002254 {source="DOID:14525", source="NCIT:C34983"} ! syndromic disease property_value: closeMatch http://identifiers.org/meddra/10039012 property_value: exactMatch DOID:14525 property_value: exactMatch http://identifiers.org/mesh/D012202 property_value: exactMatch http://identifiers.org/snomedct/74351001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035400 property_value: exactMatch NCIT:C34983 property_value: exactMatch Orphanet:3096 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3608 xsd:anyURI [Term] id: EFO:0007468 name: Rhabditida infectious disease def: "A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Rhabditida, characterized by oral aperture with 2, 3 or 6 lips." [] def: "Infections with nematodes of the order rhabditida." [MESH:D017196] synonym: "infection, Rhabditida" RELATED [MESH:D017196] synonym: "infections, Rhabditida" RELATED [MESH:D017196] synonym: "Rhabditida infection" RELATED [MESH:D017196] synonym: "Rhabditida Infections" EXACT [] synonym: "Rhabditida infections" RELATED [GARD:0008203] synonym: "Rhabditida infectious disease" EXACT [] {comment="preferred label from MONDO"} xref: DOID:2906 xref: MESH:D017196 {source="EFO:0007468", source="MONDO:equivalentTo"} xref: MeSH:D017196 xref: MONDO:0005943 xref: UMLS:C0162631 {source="MONDO:equivalentTo"} is_a: EFO:0007391 ! Nematoda infectious disease property_value: exactMatch http://identifiers.org/mesh/D017196 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162631 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007469 name: Rhabdoviridae infectious disease def: "A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Rhabdoviridae viruses." [] def: "Virus diseases caused by rhabdoviridae. Important infections include rabies; ephemeral fever; and vesicular stomatitis." [MESH:D018353] synonym: "infection, Rhabdoviridae" RELATED [MESH:D018353] synonym: "infections, Rhabdoviridae" RELATED [MESH:D018353] synonym: "rabies" EXACT [] synonym: "Rhabdoviridae infection" RELATED [MESH:D018353] synonym: "Rhabdoviridae Infections" EXACT [] synonym: "Rhabdoviridae infectious disease" EXACT [] {comment="preferred label from MONDO"} xref: DOID:1982 xref: MESH:D018353 {source="EFO:0007469", source="MONDO:equivalentTo"} xref: MeSH:D018353 xref: MONDO:0005944 xref: UMLS:C0206751 {source="MONDO:equivalentTo"} is_a: EFO:0007376 ! Mononegavirales infectious disease property_value: exactMatch http://identifiers.org/mesh/D018353 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206751 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007470 name: rhinoscleroma def: "A granulomatous disease caused by klebsiella rhinoscleromatis infection. Despite its name, this disease is not limited to the nose and nasopharynx but may affect any part of the respiratory tract, sometimes with extension to the lip and the skin." [MESH:D012226] def: "A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis." [] synonym: "Rhinoscleroma" EXACT [] synonym: "rhinoscleroma" EXACT [] {comment="preferred label from MONDO"} synonym: "Rhinoscleroma (disorder)" EXACT [] xref: DOID:11336 {source="MONDO:equivalentTo", source="EFO:0007470"} xref: ICD9:040.1 {source="DOID:11336", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10039102 xref: MESH:D012226 {source="DOID:11336", source="MONDO:equivalentTo", source="EFO:0007470"} xref: MeSH:D012226 xref: MONDO:0005945 xref: SCTID:72409005 {source="DOID:11336", source="MONDO:equivalentTo"} xref: UMLS:C0035468 {source="DOID:11336", source="MONDO:equivalentTo"} is_a: EFO:0000684 ! respiratory system disease is_a: MONDO:0000314 {source="DOID:11336"} ! primary bacterial infectious disease is_a: MONDO:0030603 ! Klebsiella infectious disease property_value: exactMatch DOID:11336 property_value: exactMatch http://identifiers.org/mesh/D012226 property_value: exactMatch http://identifiers.org/snomedct/72409005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035468 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007471 name: rhinosporidiosis def: "A parasitic Ichthyosporea infectious disease that is a chronic granulomatous infection of the mucous membranes caused by the parasite Rhinosporidium seeberi, which manifests as vascular friable polyps that arise from the nasal mucosa or external structures of the eye. Disease of the skin, mouth, upper airways, ear, genitals, and rectum has also been observed." [] def: "Chronic, localized granulomatous infection of mucocutaneous tissues, especially the nose, and characterized by hyperplasia and the development of polyps. It is found in humans and other animals and is caused by the mesomycetozoean organism rhinosporidium seeberi." [MESH:D012227] subset: clingen synonym: "Infection by Rhinosporidium seeberi" EXACT [] synonym: "infection by Rhinosporidium seeberi" EXACT [DOID:2409] synonym: "Rhinosporidioses" RELATED [MESH:D012227] synonym: "Rhinosporidiosis" EXACT [] synonym: "rhinosporidiosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Rhinosporidiosis (disorder)" EXACT [] synonym: "Rhinosporidium seeberi caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Rhinosporidium seeberi disease or disorder" EXACT [] synonym: "Rhinosporidium seeberi infectious disease" EXACT [] xref: DOID:2409 {source="MONDO:equivalentTo", source="EFO:0007471"} xref: ICD10CM:B48.1 {source="MONDO:equivalentTo", source="DOID:2409"} xref: ICD9:117.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2409"} xref: MedDRA:10039104 xref: MESH:D012227 {source="MONDO:equivalentTo", source="EFO:0007471", source="DOID:2409"} xref: MeSH:D012227 xref: MONDO:0005946 xref: SCTID:18140003 {source="MONDO:equivalentTo", source="DOID:2409"} xref: UMLS:C0035469 {source="MONDO:equivalentTo", source="DOID:2409"} is_a: MONDO:0000307 {source="DOID:2409", source="MONDO:Entailed", source="MONDO:Redundant"} ! parasitic Ichthyosporea infectious disease property_value: exactMatch DOID:2409 property_value: exactMatch http://identifiers.org/mesh/D012227 property_value: exactMatch http://identifiers.org/snomedct/18140003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035469 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B48.1 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007472 name: rickettsial pneumonia def: "A pneumonia that is caused by the bacterial genus Rickettsia. This infection results in pleural effusions and pulmonary edema." [] def: "Pneumonia caused by infection with bacteria of the family rickettsiaceae." [MESH:D011022] synonym: "Pneumonia, Rickettsial" EXACT [] synonym: "Rickettsiaceae caused pneumonia" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Rickettsiaceae pneumonia" EXACT [] synonym: "rickettsial pneumonia" EXACT [] {comment="preferred label from MONDO"} synonym: "Rickettsial pneumonia (disorder)" EXACT [] xref: DOID:13275 xref: ICD9:484.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D011022 {source="MONDO:equivalentTo", source="EFO:0007472"} xref: MeSH:D011022 xref: MONDO:0005947 xref: SCTID:233621003 {source="MONDO:equivalentTo"} xref: UMLS:C0032307 {source="MONDO:equivalentTo"} is_a: EFO:1001128 ! Rickettsiaceae infectious disease is_a: MONDO:0041850 ! pneumonia caused by gram negative bacteria property_value: exactMatch http://identifiers.org/mesh/D011022 property_value: exactMatch http://identifiers.org/snomedct/233621003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032307 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007473 name: Ritter's disease def: "A blistering skin disorder caused by exfoliative toxins produced by Staphylococcus aureus infection. The toxins cause the formation of bullae and diffuse skin desquamation. The lesions may be localized or generalized, far away from the initial site of infection." [NCIT:C85077] def: "A commensal bacterial infectious disease that is characterized by widespread erythema, peeling, and necrosis of the skin, that is caused by a toxin produced by a bacterium of the genus Staphylococcus (S. aureus). The infection has_symptoms redness of skin, has_symptom fluid-filled blister formation, has_symptom fever and has_symptom irritability." [] subset: ordo_disease {source="Orphanet:36236"} synonym: "Dermatitis exfoliativa neonatorum" EXACT [] synonym: "dermatitis exfoliativa neonatorum" EXACT [DOID:9063] synonym: "generalised exfoliative disease" EXACT OMO:0003005 [] synonym: "generalized exfoliative disease" EXACT [Orphanet:36236] synonym: "Pemphigus neonatorum" EXACT [] synonym: "pemphigus neonatorum" EXACT [DOID:9063] synonym: "Ritter disease" EXACT [DOID:9063, MONDO:0005948] synonym: "Ritter's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] synonym: "Scalded skin syndrome" EXACT [] synonym: "scalded skin syndrome" EXACT [DOID:9063] synonym: "SSSS" EXACT ABBREVIATION [Orphanet:36236] synonym: "Staphylococcal Scalded Skin Syndrome" EXACT [] synonym: "staphylococcal scalded skin syndrome" EXACT [DOID:9063] synonym: "staphylococcal scalded skin syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Staphylococcal scalded skin syndrome (disorder)" EXACT [] synonym: "toxic epidermal necrolysis, subcorneal type" EXACT [DOID:9063] synonym: "Toxic epidermal necrolysis, subcorneal type (disorder)" EXACT [] xref: DOID:9063 {source="MONDO:equivalentTo", source="EFO:0007473"} xref: ICD10CM:L00 {source="Orphanet:36236/e", source="DOID:9063", source="MONDO:equivalentTo", source="Orphanet:36236"} xref: ICD9:695.81 {source="DOID:9063", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10039199 xref: MedDRA:10041929 {source="Orphanet:36236/e", source="Orphanet:36236"} xref: MESH:D013206 {source="Orphanet:36236/e", source="DOID:9063", source="MONDO:equivalentTo", source="EFO:0007473", source="Orphanet:36236"} xref: MeSH:D013206 xref: MONDO:0018181 xref: NCIT:C85077 {source="DOID:9063", source="MONDO:equivalentTo"} xref: Orphanet:36236 {source="MONDO:equivalentTo"} xref: SCTID:200946001 {source="DOID:9063", source="MONDO:equivalentTo"} xref: SCTID:277475006 {source="MONDO:equivalentTo"} xref: UMLS:C0038165 {source="Orphanet:36236/e", source="DOID:9063", source="MONDO:equivalentTo", source="NCIT:C85077", source="Orphanet:36236"} xref: UMLS:C0678185 {source="MONDO:equivalentTo"} is_a: EFO:0005681 ! Staphylococcus aureus infection is_a: MONDO:0000315 {source="DOID:9063"} ! commensal bacterial infectious disease is_a: MONDO:0017592 {source="Orphanet:36236"} ! staphylococcal toxemia is_a: MONDO:0024295 ! skin disease caused by bacterial infection property_value: closeMatch http://identifiers.org/meddra/10041929 property_value: exactMatch DOID:9063 property_value: exactMatch http://identifiers.org/mesh/D013206 property_value: exactMatch http://identifiers.org/snomedct/200946001 property_value: exactMatch http://identifiers.org/snomedct/277475006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038165 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0678185 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L00 property_value: exactMatch NCIT:C85077 property_value: exactMatch Orphanet:36236 property_value: excluded_subClassOf MONDO:0002254 {source="NCIT:C85077"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007474 name: Roseolovirus infectious disease def: "A Herpesviridae infectious disease that results_in infection in children, has_material_basis_in Human herpesvirus 6 and has_material_basis_in Human herpesvirus 7." [] def: "Infection with roseolovirus, the most common in humans being exanthema subitum, a benign disease of infants and young children." [MESH:D019349] synonym: "Roseolovirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Roseolovirus disease or disorder" EXACT [] synonym: "Roseolovirus Infections" EXACT [] synonym: "Roseolovirus infectious disease" EXACT [] synonym: "roseolovirus infectious disease" EXACT [] {comment="preferred label from MONDO"} xref: DOID:5120 xref: MESH:D019349 {source="MONDO:equivalentTo", source="EFO:0007474"} xref: MeSH:D019349 xref: MONDO:0005949 xref: UMLS:C0376549 {source="MONDO:equivalentTo"} is_a: EFO:0007309 ! Herpesviridae infectious disease property_value: exactMatch http://identifiers.org/mesh/D019349 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0376549 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007475 name: Salmonella gastroenteritis def: "A Salmonella infectious disease that involves inflammation of the stomach and intestines caused by Salmonella infection. The symptoms include diarrhea, vomiting, abdominal pain, fever and weakness." [] def: "Poisoning caused by ingestion of food harboring species of salmonella. Conditions of raising, shipping, slaughtering, and marketing of domestic animals contribute to the spread of this bacterium in the food supply." [MESH:D012478] synonym: "Enteric paratyphosis" EXACT [] synonym: "Salmonella caused gastroenteritis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Salmonella Food Poisoning" EXACT [] synonym: "Salmonella food poisoning" EXACT [] synonym: "Salmonella food poisoning (disorder)" EXACT [] synonym: "Salmonella gastroenteritis" EXACT [] {comment="preferred label from MONDO"} synonym: "Salmonella gastroenteritis (disorder)" EXACT [] synonym: "Salmonella gastroenteritis [Ambiguous]" EXACT [] synonym: "Salmonellosis" EXACT [] synonym: "Salmonellosis (& [gastroenteritis] or [food poisoning])" EXACT [] xref: DOID:11092 xref: ICD9:003.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10039434 xref: MESH:D012478 {source="MONDO:equivalentTo", source="EFO:0007475"} xref: MeSH:D012478 xref: MONDO:0005950 xref: SCTID:42338000 {source="MONDO:equivalentTo"} is_a: EFO:1001463 ! gastroenteritis is_a: MONDO:0000827 ! salmonellosis is_a: MONDO:0043424 ! digestive system infectious disorder property_value: exactMatch http://identifiers.org/mesh/D012478 property_value: exactMatch http://identifiers.org/snomedct/42338000 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007476 name: sarcocystosis def: "A coccidiosis that involves infection of the intestine and muscles of humans and animals caused by an intracellular protozoan parasite of genus Sarcocystis. The symptoms include mild fever, diarrhea, chills, vomiting, muscle swelling, erythema, muscle tenderness,cough, arthralgia, transient pruritic rashes, headache, malaise and lymphadenopathy." [] def: "Infection of the striated muscle of mammals by parasites of the genus sarcocystis. Disease symptoms such as vomiting, diarrhea, muscle weakness, and paralysis are produced by sarcocystin, a toxin produced by the organism." [MESH:D012523] subset: ordo_disease {source="Orphanet:54368"} synonym: "Sarcocystosis" EXACT [] synonym: "sarcocystosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Sarcosporidiosis" EXACT [] synonym: "sarcosporidiosis" EXACT [DOID:9640, ICD9CM:136.5, Orphanet:54368] xref: DOID:9640 {source="MONDO:equivalentTo", source="EFO:0007476"} xref: ICD9:136.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9640"} xref: MedDRA:10039483 {source="Orphanet:54368", source="Orphanet:54368/e"} xref: MESH:D012523 {source="Orphanet:54368", source="MONDO:equivalentTo", source="Orphanet:54368/e", source="DOID:9640", source="EFO:0007476"} xref: MeSH:D012523 xref: MONDO:0018903 xref: Orphanet:54368 {source="MONDO:equivalentTo"} xref: SCTID:88905005 {source="MONDO:equivalentTo", source="DOID:9640"} xref: UMLS:C0036231 {source="Orphanet:54368", source="MONDO:equivalentTo", source="Orphanet:54368/e", source="DOID:9640"} is_a: EFO:0007212 {source="DOID:9640", source="MESH:D012523"} ! coccidiosis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare property_value: closeMatch http://identifiers.org/meddra/10039483 property_value: exactMatch DOID:9640 property_value: exactMatch http://identifiers.org/mesh/D012523 property_value: exactMatch http://identifiers.org/snomedct/88905005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036231 property_value: exactMatch Orphanet:54368 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007477 name: scarlet fever def: "A streptococcal infection, mainly occurring among children, that is characterized by a red skin rash, sore throat, and fever." [NCIT:P378] def: "An upper respiratory tract disease described as an acute contagious disease caused by Group A bacteria of the genus Streptococcus (especially various strains of S. pyogenes) and characterized by inflammation of the nose, throat, and mouth, generalized toxemia, and a red rash." [] synonym: "Scarlatina" EXACT [] synonym: "scarlatina" EXACT [DOID:8596] synonym: "Scarlet Fever" EXACT [] synonym: "scarlet fever" EXACT [] {comment="preferred label from MONDO"} xref: DOID:8596 {source="EFO:0007477", source="MONDO:equivalentTo"} xref: ICD10:A38 xref: ICD10CM:A38 {source="MONDO:equivalentTo", source="DOID:8596"} xref: ICD9:034 {source="DOID:8596"} xref: ICD9:034.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8596"} xref: MedDRA:10039587 xref: MESH:D012541 {source="EFO:0007477", source="MONDO:equivalentTo", source="DOID:8596"} xref: MeSH:D012541 xref: MONDO:0005952 xref: NCIT:C94575 {source="MONDO:equivalentTo", source="DOID:8596"} xref: SCTID:30242009 {source="MONDO:equivalentTo", source="DOID:8596"} xref: UMLS:C0036285 {source="MONDO:equivalentTo", source="DOID:8596", source="NCIT:C94575"} is_a: EFO:0000684 ! respiratory system disease is_a: EFO:1001476 ! streptococcal infection relationship: disease_has_feature EFO:1000697 {source="MONDO:Wikidata"} ! exanthem property_value: exactMatch DOID:8596 property_value: exactMatch http://identifiers.org/mesh/D012541 property_value: exactMatch http://identifiers.org/snomedct/30242009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036285 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A38 property_value: exactMatch NCIT:C94575 property_value: excluded_subClassOf MONDO:0004867 {source="DOID:8596"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007478 name: scirrhous adenocarcinoma def: "An infiltrating adenocarcinoma characterized by the presence of desmoplastic stromal reaction." [NCIT:C2928] synonym: "adenocarcinoma with productive fibrosis" EXACT [DOID:4024, NCIT:C2928] synonym: "FIBROADENOCARCINOMA, malignant" EXACT [NCIT:C2928] synonym: "fibrocarcinoma" EXACT [NCIT:C2928] synonym: "scirrhous adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "scirrhous adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "scirrhous adenocarcinoma" EXACT [NCIT:C2928] synonym: "scirrhous adenocarcinoma (morphologic abnormality)" EXACT [DOID:4024] synonym: "scirrhous carcinoma" EXACT [NCIT:C2928] xref: DOID:4024 {source="EFO:0007478", source="MONDO:equivalentTo"} xref: EFO:0007478 {source="MONDO:equivalentTo"} xref: ICDO:8141/3 {source="NCIT:C2928"} xref: MESH:D002293 {source="DOID:4024", source="EFO:0007478", source="MONDO:equivalentTo"} xref: MONDO:0005953 xref: NCIT:C2928 {source="DOID:4024", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C2928 {source="DOID:4024", source="MONDO:equivalentTo", source="exact-label-match"} xref: UMLS:C0007135 {source="DOID:4024", source="NCIT:C2928", source="MONDO:equivalentTo"} is_a: EFO:0000228 {source="DOID:4024", source="EFO:0007478", source="MESH:D002293", source="NCIT:C2928"} ! adenocarcinoma is_a: MONDO:0021581 ! connective tissue neoplasm relationship: EFO:0000784 CL:0000499 ! has_disease_location stromal cell property_value: closeMatch http://identifiers.org/snomedct/4584002 property_value: exactMatch DOID:4024 property_value: exactMatch DOID:4024 property_value: exactMatch http://identifiers.org/mesh/D002293 property_value: exactMatch http://identifiers.org/mesh/D002293 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007135 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007135 property_value: exactMatch NCIT:C2928 property_value: exactMatch NCIT:C2928 [Term] id: EFO:0007479 name: screw worm infectious disease def: "A myiasis that involves parasitic infestation of Cochliomyia hominivorax or Chrysomya bezziana larvae, which feed on the living tissues of warm-blooded animals. In Cochliomyia infestation, larvae migrate from the subdermis to other tissues in the body, causing extreme damage in the process. Chrysomya bezziana larvae feed and can cause permanent tissue damage." [] def: "Infection with larvae of the blow fly Cochliomyia hominivorax (Callitroga americanum), a common cause of disease in livestock in the southern and southwestern U.S.A." [MESH:D012610] synonym: "Cochliomyia hominivorax caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Cochliomyia hominivorax disease or disorder" EXACT [] synonym: "Cochliomyia hominivorax infectious disease" EXACT [] synonym: "infection, screw worm" RELATED [MESH:D012610] synonym: "infections, screw worm" RELATED [MESH:D012610] synonym: "Screw Worm Infection" EXACT [] synonym: "screw worm infections" RELATED [MESH:D012610] synonym: "screw worm infectious disease" EXACT [] {comment="preferred label from MONDO"} xref: DOID:12927 {source="EFO:0007479", source="MONDO:equivalentTo"} xref: MESH:D012610 {source="EFO:0007479", source="MONDO:equivalentTo", source="DOID:12927"} xref: MeSH:D012610 xref: MONDO:0005954 is_a: EFO:0007389 {source="DOID:12927", source="MESH:D012610"} ! myiasis property_value: exactMatch DOID:12927 property_value: exactMatch http://identifiers.org/mesh/D012610 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007480 name: scrub typhus def: "A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted_by trombiculid mites (Leptotrombidium deliense). The infection has_symptom fever, has_symptom headache, has_symptom muscle pain, has_symptom cough, has_symptom maculopapular rash, has_symptom eschar, has_symptom splenomegaly and has_symptom lymphadenopathy." [] def: "Scrub typhus is a rare dust mite-borne infectious disease caused by the Orientia tsutsugamushi bacterium and characterized clinically by an eruptive fever which is potentially serious." [Orphanet:83317] subset: ordo_disease {source="Orphanet:83317"} synonym: "chigger-borne rickettsiosis" RELATED [DOID:13371] synonym: "chigger-borne typhus" RELATED [DOID:13371] synonym: "Japanese river fever" EXACT [DOID:13371] synonym: "Japanese river fever (disorder)" EXACT [] synonym: "Kedani fever" EXACT [DOID:13371] synonym: "Kedani fever (disorder)" EXACT [] synonym: "Mite-borne rickettsiosis" RELATED [DOID:13371] synonym: "Mite-borne typhus" RELATED [DOID:13371] synonym: "scrub (mite-borne) typhus" RELATED [DOID:13371] synonym: "scrub mite-borne typhus" EXACT [DOID:13371] synonym: "Scrub mite-borne typhus (& various types)" EXACT [] synonym: "Scrub Typhus" EXACT [] synonym: "Scrub typhus" EXACT [] synonym: "scrub typhus" EXACT [] {comment="preferred label from MONDO"} synonym: "Scrub typhus (disorder)" EXACT [] synonym: "Scrub typhus (disorder) [Ambiguous]" EXACT [] synonym: "tropical typhus" RELATED [DOID:13371] synonym: "Tsutsugamushi" EXACT [] synonym: "tsutsugamushi" EXACT [DOID:13371] synonym: "tsutsugamushi disease" EXACT [DOID:13371, Orphanet:83317] synonym: "Tsutsugamushi disease (disorder)" EXACT [] synonym: "tsutsugamushi fever" EXACT [DOID:13371, Orphanet:83317] synonym: "typhus fever due to Rickettsia tsutsugamushi" RELATED [DOID:13371] xref: DOID:13371 {source="MONDO:equivalentTo", source="EFO:0007480"} xref: ICD9:081.2 {source="MONDO:equivalentTo", source="DOID:13371", source="MONDO:i2s"} xref: MedDRA:10039766 {source="Orphanet:83317/e", source="Orphanet:83317"} xref: MESH:D012612 {source="Orphanet:83317/e", source="MONDO:equivalentTo", source="DOID:13371", source="EFO:0007480", source="Orphanet:83317"} xref: MeSH:D012612 xref: MONDO:0019365 xref: Orphanet:83317 {source="MONDO:equivalentTo"} xref: SCTID:271425001 {source="MONDO:equivalentTo", source="DOID:13371"} xref: UMLS:C0036472 {source="Orphanet:83317/e", source="MONDO:equivalentTo", source="DOID:13371", source="Orphanet:83317"} is_a: EFO:0009117 {source="DOID:13371", source="MONDO:Redundant"} ! typhus is_a: MONDO:0600003 {source="https://science.jrank.org/pages/3289/Hemorrhagic-Fevers-Diseases.html"} ! bacterial hemorrhagic fever property_value: closeMatch http://identifiers.org/meddra/10039766 property_value: exactMatch DOID:13371 property_value: exactMatch http://identifiers.org/mesh/D012612 property_value: exactMatch http://identifiers.org/snomedct/271425001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036472 property_value: exactMatch Orphanet:83317 property_value: excluded_subClassOf MONDO:0005619 {source="EFO:0007480", source="https://github.com/EBISPOT/efo/issues/171"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007481 name: septicemic plague def: "A form of plague (i.e. infection from Yersinia pestis); an infection of the blood, most commonly spread by bites from infected fleas. Bacterial endotoxins may cause coagulation, which leads to formation of tiny clots throughout the body. Symptom include fever, chills, prostration, abdominal pain, shock and bleeding." [] def: "A plague in which the bacteria have entered the bloodstream." [https://www.healthline.com/health/plague#types] synonym: "septicemic plague" EXACT [] {comment="preferred label from MONDO"} synonym: "Septicemic plague (disorder)" EXACT [] xref: DOID:3481 {source="MONDO:equivalentTo", source="EFO:0007481"} xref: ICD10CM:A20.7 {source="MONDO:equivalentTo", source="DOID:3481"} xref: ICD9:020.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:3481"} xref: MedDRA:10040097 xref: MeSH:D010930 xref: MONDO:0005956 xref: SCTID:9012003 {source="MONDO:equivalentTo", source="DOID:3481"} xref: UMLS:C0152936 {source="MONDO:equivalentTo", source="DOID:3481"} xref: Wikipedia:Septicemic_plague is_a: EFO:0009425 {source="DOID:3481", source="ICD10CM:A20.7", source="MONDO:Redundant"} ! Yersinia pestis infectious disease is_a: EFO:0010283 ! blood disease property_value: exactMatch DOID:3481 property_value: exactMatch http://identifiers.org/snomedct/9012003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152936 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A20.7 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007482 name: setariasis def: "A filariasis that involves parasitic infection of the abdomen in cattle, horses and sheep by nematodes of the genus Setaria." [] def: "Infection with nematodes of the genus Setaria. This condition is usually seen in cattle and equines and is of little pathogenic significance, although migration of the worm to the eye may lead to blindness." [MESH:D012719] synonym: "infectious disease by Setaria" EXACT [DOID:1079] synonym: "Infectious Disease by Setaria (disorder)" EXACT [] synonym: "Setaria caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Setaria disease or disorder" EXACT [] synonym: "Setaria infectious disease" EXACT [] synonym: "Setariasis" EXACT [] synonym: "setariasis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:1079 {source="MONDO:equivalentTo", source="EFO:0007482"} xref: MESH:D012719 {source="DOID:1079", source="MONDO:equivalentTo", source="EFO:0007482"} xref: MeSH:D012719 xref: MONDO:0005957 xref: SCTID:4414005 {source="DOID:1079", source="MONDO:equivalentTo"} xref: UMLS:C0036850 {source="DOID:1079", source="MONDO:equivalentTo"} is_a: EFO:0000701 ! skin disease is_a: EFO:0007468 ! Rhabditida infectious disease is_a: MONDO:0016075 {source="DOID:1079", source="MESH:D012719"} ! filariasis property_value: exactMatch DOID:1079 property_value: exactMatch http://identifiers.org/mesh/D012719 property_value: exactMatch http://identifiers.org/snomedct/4414005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036850 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007483 name: obsolete_sex cord-gonadal stromal tumor property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.46.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication. Use http://www.ebi.ac.uk/efo/EFO_1000052." xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_1000052 [Term] id: EFO:0007484 name: sick building syndrome def: "A group of symptoms that are two- to three-fold more common in those who work in large, energy-efficient buildings, associated with an increased frequency of headaches, lethargy, and dry skin. Clinical manifestations include hypersensitivity pneumonitis (alveolitis, extrinsic allergic); allergic rhinitis (rhinitis, allergic, perennial); asthma; infections, skin eruptions, and mucous membrane irritation syndromes. Current usage tends to be less restrictive with regard to the type of building and delineation of complaints. (From Segen, Dictionary of Modern Medicine, 1992)" [MESH:D018877] def: "An extrinsic allergic alveolitis that is characterized by a set of symptoms such as headache, fatigue, eye irritation, and breathing difficulties that affect workers in modern airtight office buildings. The disease is caused by indoor pollutants (as formaldehyde fumes, particulate matter, or microorganisms), and the symptoms tend to disappear when affected individuals leave the building." [] synonym: "Sick Building Syndrome" EXACT [] synonym: "sick building syndrome" EXACT [] {comment="preferred label from MONDO"} xref: DOID:2710 {source="MONDO:equivalentTo", source="EFO:0007484"} xref: MedDRA:10040634 xref: MESH:D018877 {source="DOID:2710", source="MONDO:equivalentTo", source="EFO:0007484"} xref: MeSH:D018877 xref: MONDO:0005959 xref: SCTID:19076009 {source="DOID:2710", source="MONDO:equivalentTo"} xref: UMLS:C0037050 {source="DOID:2710", source="MONDO:equivalentTo"} is_a: MONDO:0017853 {source="DOID:2710"} ! hypersensitivity pneumonitis property_value: exactMatch DOID:2710 property_value: exactMatch http://identifiers.org/mesh/D018877 property_value: exactMatch http://identifiers.org/snomedct/19076009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037050 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007485 name: silicosis def: "A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles." [] def: "Silicosis is a respiratory disease caused by breathing in (inhaling) silica dust. There are three types of silicosis: Simple chronic silicosis, the most common type of silicosis, results from long-term exposure (usually more than 20years) to low amounts of silica dust. Simple chronic silicosismay causepeople to have difficulty breathing. Accelerated silicosis occurs after 5 to 15 yearsof exposure of higher levels of silica.Swelling of the lungsand other symptoms occur faster in this type of silicosis than in the simple chronic form. Acute silicosis results from short-term exposure (weeks or months) of large amounts of silica.The lungs become very inflamed and can fill with fluid, causing severe shortness of breath and low blood oxygen levels. A cough, weight loss, and fatigue may also be present. Acute silicosis progresses rapidly and can be fatal within months. People who work in jobs where they are exposed to silica dust (mining, quarrying, construction, sand blasting, stone cutting) are at risk of developing this condition." [https://rarediseases.info.nih.gov/diseases/7647/silicosis] subset: gard_rare {source="GARD:0007647"} synonym: "accelerated silicosis" RELATED [GARD:0007647] synonym: "acute silicosis" RELATED [GARD:0007647] synonym: "chronic silicosis" RELATED [GARD:0007647] synonym: "experimental silicosis" RELATED [GARD:0007647] synonym: "nodular silicosis" RELATED [] synonym: "pneumoconiosis caused by silica" RELATED [] synonym: "Pneumoconiosis due to other silica or silicates" EXACT [] synonym: "pneumoconiosis due to silica" EXACT [] synonym: "Pneumoconiosis due to silica (disorder)" EXACT [] synonym: "pneumoconiosis due to silicates" EXACT [DOID:10325] synonym: "Pneumoconiosis due to silicates (disorder)" EXACT [] synonym: "silica pneumoconiosis" EXACT [DOID:10325] synonym: "Silica pneumoconiosis NOS (disorder)" EXACT [] synonym: "silicatosis" RELATED [] synonym: "Silicosis" EXACT [] synonym: "silicosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Silicotic fibrosis of lung" EXACT [] synonym: "silicotic fibrosis of lung" EXACT [DOID:10325] synonym: "silicotuberculosis" EXACT [] synonym: "silicotuberculosis" NARROW [DOID:10325] xref: DOID:10325 {source="MONDO:equivalentTo", source="EFO:0007485"} xref: ICD9:502 {source="DOID:10325", source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10040678 xref: MESH:D012829 {source="DOID:10325", source="MONDO:equivalentTo", source="EFO:0007485"} xref: MeSH:D012829 xref: MONDO:0005960 xref: NCIT:C3369 {source="DOID:10325", source="MONDO:equivalentTo"} xref: SCTID:805002 {source="DOID:10325", source="MONDO:equivalentTo"} xref: UMLS:C0037116 {source="DOID:10325", source="MONDO:equivalentTo", source="NCIT:C3369"} is_a: MONDO:0015926 {source="DOID:10325", source="EFO:0007485", source="MESH:D012829", source="MONDO:Redundant", source="NCIT:C3369"} ! pneumoconiosis property_value: exactMatch DOID:10325 property_value: exactMatch http://identifiers.org/mesh/D012829 property_value: exactMatch http://identifiers.org/snomedct/805002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037116 property_value: exactMatch NCIT:C3369 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7647/silicosis xsd:anyURI {source="GARD:0007647"} [Term] id: EFO:0007486 name: sinusitis def: "A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip." [] def: "An acute or chronic inflammatory process affecting the mucous membranes of any sinus cavity." [NCIT:C35024] synonym: "sinusitis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0050127 {source="MONDO:equivalentTo", source="EFO:0007486"} xref: ICD10:J01 xref: ICD10:J32 xref: ICD9:461 {source="DOID:0050127"} xref: ICD9:461.9 {source="DOID:0050127"} xref: MedDRA:10040753 xref: MESH:D012852 {source="MONDO:equivalentTo", source="EFO:0007486"} xref: MeSH:D012852 xref: MONDO:0005961 xref: NCIT:C35024 {source="MONDO:equivalentTo"} xref: SCTID:36971009 {source="MONDO:equivalentTo"} xref: UMLS:C0037199 {source="MONDO:equivalentTo", source="NCIT:C35024"} is_a: EFO:0009481 {source="DOID:0050127", source="MESH:D012852", source="MONDO:Redundant", source="NCIT:C35024/inferred"} ! paranasal sinus disease is_a: EFO:0009903 ! inflammatory disease property_value: exactMatch DOID:0050127 property_value: exactMatch http://identifiers.org/mesh/D012852 property_value: exactMatch http://identifiers.org/snomedct/36971009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037199 property_value: exactMatch NCIT:C35024 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007487 name: skeletal tuberculosis def: "An extrapulmonary tuberculosis that results in formation of lesions located_in bone." [] def: "Tuberculosis of the bones or joints." [MESH:D014394] synonym: "osteoarticular tuberculosis" EXACT [DOID:1639] synonym: "skeletal tuberculosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Tuberculosis, Osteoarticular" EXACT [] xref: DOID:1639 {source="MONDO:equivalentTo", source="EFO:0007487"} xref: ICD9:015 {source="DOID:1639"} xref: ICD9:015.9 {source="DOID:1639"} xref: MESH:D014394 {source="MONDO:equivalentTo", source="EFO:0007487", source="DOID:1639"} xref: MeSH:D014394 xref: MONDO:0005962 xref: SCTID:17653001 {source="MONDO:equivalentTo", source="DOID:1639"} xref: UMLS:C0041324 {source="MONDO:equivalentTo", source="DOID:1639"} is_a: EFO:0004260 ! bone disease is_a: MONDO:0000368 {source="DOID:1639"} ! extrapulmonary tuberculosis relationship: EFO:0000784 UBERON:0001474 ! has_disease_location bone element property_value: exactMatch DOID:1639 property_value: exactMatch http://identifiers.org/mesh/D014394 property_value: exactMatch http://identifiers.org/snomedct/17653001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041324 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007488 name: sparganosis def: "A condition resulting from infection with the second stage larvae of the parasite Spirometra." [NCIT:P378] def: "A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected." [] synonym: "Infection by Sparganum" EXACT [] synonym: "infection by sparganum" EXACT [DOID:10080] synonym: "Sparganosis" EXACT [] synonym: "sparganosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Sparganosis [larval diphyllobothriasis]" EXACT [] synonym: "sparganosis [larval diphyllobothriasis]" EXACT [DOID:10080, ICD9CM:123.5] synonym: "Spirometra caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Spirometra disease or disorder" EXACT [] synonym: "Spirometra infectious disease" EXACT [] xref: DOID:10080 {source="EFO:0007488", source="MONDO:equivalentTo"} xref: ICD10CM:B70.1 {source="DOID:10080", source="MONDO:equivalentTo"} xref: ICD9:123.5 {source="DOID:10080", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D013031 {source="EFO:0007488", source="DOID:10080", source="MONDO:equivalentTo"} xref: MeSH:D013031 xref: MONDO:0005963 xref: NCIT:C35030 {source="DOID:10080", source="MONDO:equivalentTo"} xref: SCTID:31659000 {source="DOID:10080", source="MONDO:equivalentTo"} xref: UMLS:C0037753 {source="NCIT:C35030", source="DOID:10080", source="MONDO:equivalentTo"} is_a: MONDO:0042488 ! Cestode infectious disease property_value: exactMatch DOID:10080 property_value: exactMatch http://identifiers.org/mesh/D013031 property_value: exactMatch http://identifiers.org/snomedct/31659000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037753 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B70.1 property_value: exactMatch NCIT:C35030 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007489 name: sphenoid sinusitis def: "A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head." [] def: "An acute or chronic inflammatory process affecting the mucous membrane of the sphenoid sinus." [NCIT:P378] synonym: "sinusitis of sphenoid bone" EXACT [MONDO:design_pattern] synonym: "sphenoid bone sinusitis" EXACT [MONDO:patterns/location] synonym: "Sphenoid Sinusitis" EXACT [] synonym: "sphenoid sinusitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Sphenoidal sinusitis" EXACT [] synonym: "sphenoidal sinusitis" EXACT [DOID:10794, NCIT:C35031] synonym: "Sphenoidal sinusitis (disorder)" EXACT [] xref: DOID:10794 {source="EFO:0007489", source="MONDO:equivalentTo"} xref: MESH:D015524 {source="EFO:0007489", source="MONDO:equivalentTo", source="DOID:10794"} xref: MeSH:D015524 xref: MONDO:0005964 xref: NCIT:C35031 {source="MONDO:equivalentTo", source="DOID:10794"} xref: SCTID:13266007 {source="MONDO:equivalentTo", source="DOID:10794"} xref: UMLS:C0037886 {source="NCIT:C35031", source="MONDO:equivalentTo", source="DOID:10794"} is_a: EFO:0007486 {source="DOID:10794", source="EFO:0007489", source="MESH:D015524", source="MONDO:Redundant", source="NCIT:C35031"} ! sinusitis is_a: MONDO:0023369 ! disorder of facial skeleton property_value: exactMatch DOID:10794 property_value: exactMatch http://identifiers.org/mesh/D015524 property_value: exactMatch http://identifiers.org/snomedct/13266007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037886 property_value: exactMatch NCIT:C35031 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007490 name: spinal stenosis def: "A bone deterioration disease that has_material_basis_in bony spurs, disc degeneration, or thickened ligaments which results_in narrowing located_in spinal cord." [] def: "Narrowing of the spinal canal." [MESH:D013130] synonym: "cervical spinal stenosis" EXACT [] synonym: "cervical spinal stenosis" NARROW [DOID:6725] synonym: "lumbar spinal stenosis" EXACT [] synonym: "lumbar spinal stenosis" NARROW [DOID:6725] synonym: "Spinal Stenosis" EXACT [] synonym: "spinal stenosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Spinal stenosis of lumbar region" EXACT [] synonym: "spinal stenosis of lumbar region" NARROW [DOID:6725, ICD9CM:724.02] xref: DOID:6725 {source="EFO:0007490", source="MONDO:equivalentTo"} xref: HP:0003416 {source="MONDO:otherHierarchy"} xref: ICD9:723.0 {source="DOID:6725"} xref: ICD9:724.00 {source="DOID:6725", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:724.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10041601 xref: MedDRA:10082214 xref: MESH:D013130 {source="DOID:6725", source="EFO:0007490", source="MONDO:equivalentTo"} xref: MeSH:D013130 xref: MONDO:0005965 xref: NCIT:C177444 {source="MONDO:equivalentTo"} xref: SCTID:18347007 {source="MONDO:relatedTo", source="DOID:6725"} xref: SCTID:76107001 {source="DOID:6725", source="MONDO:equivalentTo"} xref: UMLS:C0158288 {source="MONDO:relatedTo", source="DOID:6725"} is_a: MONDO:0000812 ! vertebral column disorder is_a: MONDO:0000836 {source="DOID:6725"} ! disease of bone structure property_value: exactMatch DOID:6725 property_value: exactMatch http://identifiers.org/mesh/D013130 property_value: exactMatch http://identifiers.org/snomedct/76107001 property_value: exactMatch NCIT:C177444 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007491 name: spleen cancer def: "A malignant neoplasm involving the spleen" [MONDO:DesignPattern] def: "A malignant neoplasm involving the spleen" [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of spleen" EXACT [MONDO:patterns/cancer] synonym: "cancer of the spleen" EXACT [NCIT:C3539] synonym: "malignant neoplasm of spleen" EXACT [MONDO:patterns/cancer, NCIT:C3539] synonym: "malignant neoplasm of the spleen" EXACT [NCIT:C3539] synonym: "malignant spleen neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant splenic neoplasm" EXACT [NCIT:C3539] synonym: "malignant splenic tumor" EXACT [DOID:672, NCIT:C3539] synonym: "malignant splenic tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of spleen" EXACT [NCIT:C3539] synonym: "malignant tumor of spleen" EXACT [DOID:672, NCIT:C3539] synonym: "malignant tumor of the spleen" EXACT [NCIT:C3539] synonym: "malignant tumour of spleen" EXACT [DOID:672] synonym: "malignant tumour of spleen" EXACT OMO:0003005 [] synonym: "malignant tumour of the spleen" EXACT OMO:0003005 [] synonym: "spleen cancer" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "spleen cancer" EXACT [] {comment="preferred label from MONDO"} synonym: "spleen cancer" EXACT [MONDO:patterns/location, NCIT:C3539] synonym: "spleen neoplasm" BROAD [DOID:672] synonym: "spleen neoplasm" EXACT [CSP2005:2004-6589, DOID:672] synonym: "splenic cancer" EXACT [NCIT:C3539] synonym: "splenic neoplasm" BROAD [DOID:672, NCIT:C3383] synonym: "splenic neoplasm" EXACT [DOID:672, NCIT:C3383] xref: DOID:672 {source="MONDO:equivalentTo", source="EFO:0007491"} xref: EFO:0007491 {source="MONDO:equivalentTo"} xref: ICD10:C26.1 {source="MONDO:equivalentTo", source="DOID:672"} xref: ICD10CM:C26.1 {source="MONDO:equivalentTo", source="DOID:672"} xref: MESH:D013160 {source="MONDO:equivalentTo", source="EFO:0007491", source="DOID:672"} xref: MONDO:0005966 xref: NCIT:C3383 {source="MONDO:relatedTo", source="DOID:672"} xref: NCIT:C3539 {source="MONDO:equivalentTo", source="DOID:672"} xref: SCTID:127230005 {source="MONDO:equivalentTo", source="DOID:672"} is_a: MONDO:0000612 {source="DOID:672", source="MONDO:Entailed", source="MONDO:Redundant"} ! lymphatic system cancer is_a: MONDO:0002516 {source="ICD10CM:C26.1/inferred", source="MONDO:Redundant"} ! digestive system cancer is_a: MONDO:0036696 ! spleen neoplasm property_value: closeMatch http://identifiers.org/snomedct/187823003 property_value: closeMatch http://identifiers.org/snomedct/254616004 property_value: closeMatch http://identifiers.org/snomedct/363499005 property_value: closeMatch http://identifiers.org/snomedct/94071006 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0037999 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153470 property_value: exactMatch DOID:672 property_value: exactMatch DOID:672 property_value: exactMatch http://identifiers.org/mesh/D013160 property_value: exactMatch http://identifiers.org/mesh/D013160 property_value: exactMatch http://identifiers.org/snomedct/127230005 property_value: exactMatch http://identifiers.org/snomedct/127230005 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/C26.1 property_value: exactMatch NCIT:C3539 property_value: exactMatch NCIT:C3539 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/cancer.yaml [Term] id: EFO:0007492 name: splenic tuberculosis def: "An abdominal tuberculosis that results_in formation of granulomas or abscesses located_in spleen." [] def: "Infection of the spleen with species of mycobacterium." [MESH:D014400] synonym: "splenic tuberculosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Tuberculosis, Splenic" EXACT [] xref: DOID:9305 {source="MONDO:equivalentTo", source="EFO:0007492"} xref: ICD9:017.7 {source="DOID:9305"} xref: MESH:D014400 {source="DOID:9305", source="MONDO:equivalentTo", source="EFO:0007492"} xref: MeSH:D014400 xref: MONDO:0005967 xref: SCTID:28399005 {source="DOID:9305", source="MONDO:equivalentTo"} xref: UMLS:C0041331 {source="DOID:9305", source="MONDO:equivalentTo"} is_a: EFO:0009002 ! splenic disease is_a: MONDO:0000369 ! abdominal tuberculosis property_value: exactMatch DOID:9305 property_value: exactMatch http://identifiers.org/mesh/D014400 property_value: exactMatch http://identifiers.org/snomedct/28399005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041331 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007493 name: spondylolisthesis def: "A bone structure disease that has_material_basis_in displacement located_in set of vertebrae." [] def: "A condition in which there is forward displacement of a vertebral bone over the on below it." [NCIT:P378] synonym: "Spondylolisthesis" EXACT [] synonym: "spondylolisthesis" EXACT [] {comment="preferred label from MONDO"} synonym: "spondylolisthesis" EXACT [MONDO:ambiguous, OMIM:184200] synonym: "spondylolisthesis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:6682 {source="MONDO:equivalentTo", source="EFO:0007493"} xref: HP:0003302 {source="MONDO:otherHierarchy"} xref: MedDRA:10041675 xref: MedDRA:10063550 xref: MESH:D013168 {source="MONDO:equivalentTo", source="EFO:0007493", source="DOID:6682"} xref: MeSH:D013168 xref: MONDO:0008475 xref: NCIT:C35033 {source="MONDO:equivalentTo", source="DOID:6682"} xref: OMIM:184200 {source="MONDO:equivalentTo", source="DOID:6682"} xref: SCTID:274152003 {source="MONDO:equivalentTo", source="DOID:6682"} xref: UMLS:C0038016 {source="NCIT:C35033", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:6682", source="OMIM:184200"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: MONDO:0000836 {source="DOID:6682"} ! disease of bone structure property_value: exactMatch DOID:6682 property_value: exactMatch http://identifiers.org/mesh/D013168 property_value: exactMatch http://identifiers.org/snomedct/274152003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038016 property_value: exactMatch https://omim.org/entry/184200 property_value: exactMatch NCIT:C35033 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000589 "spondylolisthesis (disease)" xsd:string [Term] id: EFO:0007494 name: sporotrichosis def: "A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Sporothrix schenckii in animals and humans and results_in_formation_of red papule at the site of inoculation." [] def: "The commonest and least serious of the deep mycoses, characterized by nodular lesions of the cutaneous and subcutaneous tissues. It is caused by inhalation of contaminated dust or by infection of a wound." [MESH:D013174] subset: gard_rare {source="GARD:0007692"} subset: ordo_disease {source="Orphanet:826"} synonym: "rose gardener's disease" RELATED [GARD:0007692] synonym: "Sporotrichosis" EXACT [] synonym: "sporotrichosis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:14484 {source="MONDO:equivalentTo", source="EFO:0007494"} xref: ICD10CM:B42 {source="MONDO:equivalentTo", source="DOID:14484"} xref: ICD9:117.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14484"} xref: MedDRA:10041736 {source="Orphanet:826", source="Orphanet:826/e"} xref: MESH:D013174 {source="MONDO:equivalentTo", source="DOID:14484", source="Orphanet:826", source="EFO:0007494", source="Orphanet:826/e"} xref: MeSH:D013174 xref: MONDO:0005968 xref: Orphanet:826 {source="MONDO:equivalentTo"} xref: SCTID:42094007 {source="MONDO:equivalentTo", source="DOID:14484"} xref: UMLS:C0038034 {source="MONDO:equivalentTo", source="DOID:14484", source="Orphanet:826", source="Orphanet:826/e"} is_a: MONDO:0002041 {source="DOID:14484/inferred", source="ICD10CM:B42", source="MESH:D013174/inferred", source="Orphanet:826"} ! fungal infectious disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015578"} ! rare property_value: closeMatch http://identifiers.org/meddra/10041736 property_value: exactMatch DOID:14484 property_value: exactMatch http://identifiers.org/mesh/D013174 property_value: exactMatch http://identifiers.org/snomedct/42094007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038034 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B42 property_value: exactMatch Orphanet:826 property_value: excluded_subClassOf MONDO:0000308 {source="DOID:14484"} property_value: excluded_subClassOf MONDO:0002040 {source="MESH:D013174"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7692/sporotrichosis xsd:anyURI {source="GARD:0007692"} [Term] id: EFO:0007495 name: St. Louis encephalitis def: "A viral encephalitis caused by the St. Louis encephalitis virus (encephalitis virus, st. louis), a flavivirus. It is transmitted to humans and other vertebrates primarily by mosquitoes of the genus culex. The primary animal vectors are wild birds and the disorder is endemic to the midwestern and southeastern United States. Infections may be limited to an influenza-like illness or present as an aseptic meningitis or encephalitis. Clinical manifestations of the encephalitic presentation may include seizures, lethargy, myoclonus, focal neurologic signs, coma, and death. (From Adams et al., Principles of Neurology, 6th ed, p750)" [MESH:D004674] def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis." [] subset: ordo_disease {source="Orphanet:83484"} synonym: "Encephalitis, St. Louis" EXACT [] synonym: "Neuroinvasive St. Louis encephalitis virus infection" EXACT [DOID:10845] synonym: "Saint Louis encephalitis" EXACT [Orphanet:83484] synonym: "st. Louis encephalitis" EXACT [] {comment="preferred label from MONDO"} synonym: "St. Louis encephalitis virus caused infectious encephalitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "St. Louis encephalitis virus infectious encephalitis" EXACT [] xref: DOID:10845 {source="MONDO:equivalentTo", source="EFO:0007495"} xref: ICD10CM:A83.3 {source="Orphanet:83484", source="DOID:10845", source="Orphanet:83484/ntbt", source="MONDO:equivalentTo"} xref: ICD9:062.3 {source="DOID:10845", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10041896 {source="Orphanet:83484", source="Orphanet:83484/e"} xref: MESH:D004674 {source="Orphanet:83484", source="DOID:10845", source="MONDO:equivalentTo", source="Orphanet:83484/e", source="EFO:0007495"} xref: MeSH:D004674 xref: MONDO:0005969 xref: Orphanet:83484 {source="MONDO:equivalentTo"} xref: SCTID:417607009 {source="DOID:10845", source="MONDO:equivalentTo"} xref: UMLS:C0014060 {source="Orphanet:83484", source="DOID:10845", source="MONDO:equivalentTo", source="Orphanet:83484/e"} is_a: EFO:0007274 {source="MESH:D004674/inferred", source="MONDO:Redundant"} ! Flaviviridae infectious disease is_a: MONDO:0020601 ! mosquito-borne viral encephalitis property_value: closeMatch http://identifiers.org/meddra/10041896 property_value: exactMatch DOID:10845 property_value: exactMatch http://identifiers.org/mesh/D004674 property_value: exactMatch http://identifiers.org/snomedct/417607009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014060 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A83.3 property_value: exactMatch Orphanet:83484 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007496 name: staphylococcal pneumonia def: "A staphylococcal infectious disease that is caused due to the infection by Gram-positive bacterium Staphylococcus aureus, which is an important cause of hospital-acquired infection that results in the formation of abscesses, empyema, pneumothorax, and cyst." [] def: "Pneumonia caused by infections with bacteria of the genus staphylococcus, usually with staphylococcus aureus." [MESH:D011023] synonym: "pneumonia due to staphylococcus aureus" EXACT [] synonym: "Pneumonia, Staphylococcal" EXACT [] synonym: "staphylococcal pneumonia" EXACT [] {comment="preferred label from MONDO"} synonym: "Staphylococcus aureus pneumonia" EXACT [] synonym: "Staphylococcus caused pneumonia" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Staphylococcus pneumonia" EXACT [] xref: DOID:12608 xref: ICD9:482.4 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:482.40 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:482.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10041928 xref: MESH:D011023 {source="MONDO:equivalentTo", source="EFO:0007496"} xref: MeSH:D011023 xref: MONDO:0005970 xref: SCTID:22754005 {source="MONDO:equivalentTo"} is_a: EFO:1001272 ! bacterial pneumonia is_a: EFO:1001849 ! staphylococcal skin infections property_value: exactMatch http://identifiers.org/mesh/D011023 property_value: exactMatch http://identifiers.org/snomedct/22754005 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007497 name: staphyloenterotoxemia def: "A primary bacterial infectious disease that results_in infection located_in intestine caused by eating food contaminated with enterotoxins produced by bacteria, has_material_basis_in Staphylococcus aureus. The infection has_symptom diarrhea, has_symptom vomiting, has_symptom nausea, has_symptom cramps, and has_symptom weakness." [] def: "Food poisoning that is caused by Staphylococcal infection." [NCIT:C35037] synonym: "Staphylococcal Food Poisoning" EXACT [] synonym: "Staphylococcal food poisoning" EXACT [] synonym: "staphylococcal food poisoning" EXACT [DOID:96, ICD9CM:005.0, NCIT:C35037] synonym: "Staphylococcal toxaemia due to food" EXACT [] synonym: "staphylococcal toxaemia due to food" EXACT OMO:0003005 [] synonym: "staphylococcal toxemia due to food" EXACT [DOID:96] synonym: "staphyloenterotoxemia" EXACT [] {comment="preferred label from MONDO"} synonym: "staphyloenterotoxicosis" EXACT [DOID:96] xref: DOID:96 {source="MONDO:equivalentTo", source="EFO:0007497"} xref: ICD9:005.0 {source="DOID:96", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D013202 {source="DOID:96", source="MONDO:equivalentTo", source="EFO:0007497"} xref: MeSH:D013202 xref: MONDO:0005971 xref: NCIT:C35037 {source="DOID:96", source="MONDO:equivalentTo"} xref: SCTID:84622004 {source="DOID:96", source="MONDO:equivalentTo"} xref: UMLS:C0038159 {source="DOID:96", source="MONDO:equivalentTo", source="NCIT:C35037"} is_a: EFO:0010282 ! gastrointestinal disease is_a: EFO:1001849 {source="MESH:D013202", source="NCIT:C35037"} ! staphylococcal skin infections is_a: MONDO:0000314 {source="DOID:96"} ! primary bacterial infectious disease property_value: exactMatch DOID:96 property_value: exactMatch http://identifiers.org/mesh/D013202 property_value: exactMatch http://identifiers.org/snomedct/84622004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038159 property_value: exactMatch NCIT:C35037 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007498 name: Stiff-Person syndrome def: "A movement disease that is of unknown etiology characterized by progressive rigidity." [] def: "Stiff-man syndrome (SMS) is a rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis." [Orphanet:3198] subset: ordo_disease {source="Orphanet:3198"} synonym: "Moersch-Woltman syndrome" EXACT [Orphanet:3198] synonym: "Morsch Woltman syndrome" RELATED [GARD:0005023] synonym: "progressive encephalomyelitis with rigidity" RELATED [OMIM:184850] synonym: "SMS" RELATED ABBREVIATION [Orphanet:3198] synonym: "SPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:184850, Orphanet:3198] synonym: "Stiff man syndrome" EXACT [Orphanet:3198] synonym: "stiff man syndrome" EXACT [DOID:13366] synonym: "Stiff Person syndrome" EXACT [NCIT:C85170] synonym: "Stiff person syndrome and related disorders" RELATED [Orphanet:3198] synonym: "Stiff-Man syndrome" RELATED [OMIM:184850] synonym: "Stiff-man syndrome" EXACT [DOID:13366, ICD9CM:333.91] synonym: "Stiff-man syndrome (disorder)" EXACT [] synonym: "STIFF-PERSON syndrome" RELATED [OMIM:184850] synonym: "Stiff-Person Syndrome" EXACT [] synonym: "stiff-person syndrome" EXACT [MONDO:Lexical, OMIM:184850] synonym: "stiff-person syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Stiff-trunk syndrome" RELATED [OMIM:184850] xref: DOID:13366 {source="MONDO:equivalentTo", source="EFO:0007498"} xref: ICD9:333.91 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13366"} xref: MedDRA:10042044 {source="Orphanet:3198/e", source="Orphanet:3198"} xref: MESH:D016750 {source="MONDO:equivalentTo", source="DOID:13366", source="EFO:0007498"} xref: MeSH:D016750 xref: MONDO:0008491 xref: NCIT:C85170 {source="MONDO:equivalentTo", source="DOID:13366"} xref: OMIM:184850 {source="Orphanet:3198/e", source="MONDO:equivalentTo", source="DOID:13366", source="Orphanet:3198"} xref: Orphanet:3198 {source="MONDO:equivalentTo", source="OMIM:184850"} xref: SCTID:5217008 {source="MONDO:equivalentTo", source="DOID:13366"} xref: UMLS:C0085292 {source="NCIT:C85170", source="Orphanet:3198/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:184850", source="DOID:13366", source="Orphanet:3198"} is_a: EFO:0000618 {source="MONDO:0015916-obsoleted"} ! nervous system disease is_a: EFO:0004280 ! movement disorder is_a: MONDO:0002254 {source="NCIT:C85170"} ! syndromic disease property_value: closeMatch http://identifiers.org/meddra/10042044 property_value: exactMatch DOID:13366 property_value: exactMatch http://identifiers.org/mesh/D016750 property_value: exactMatch http://identifiers.org/snomedct/5217008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085292 property_value: exactMatch https://omim.org/entry/184850 property_value: exactMatch NCIT:C85170 property_value: exactMatch Orphanet:3198 property_value: excluded_subClassOf MONDO:0005015 {source="MONDO:0015888-obsoleted"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5723 xsd:anyURI [Term] id: EFO:0007499 name: streptococcal pneumonia def: "A bacterial pneumonia caused due to the infection by Gram-positive bacteria of genus Streptococcus which are the most common cause of community-acquired pneumonias." [] def: "A febrile disease caused by streptococcus pneumoniae." [MESH:D011018] synonym: "pneumococcal pneumonia" EXACT [] synonym: "pneumonia caused by streptococcus" RELATED [] synonym: "pneumonia due to streptococcus" EXACT [] synonym: "Pneumonia, Pneumococcal" EXACT [] synonym: "streptococcal pneumonia" EXACT [] {comment="preferred label from MONDO"} synonym: "Streptococcus pneumonia" RELATED [DOID:0040084] synonym: "Streptococcus pneumoniae caused pneumonia" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Streptococcus pneumoniae pneumonia" EXACT [] xref: DOID:0040084 {source="MONDO:equivalentTo"} xref: DOID:10532 xref: ICD10CM:J13 {source="MONDO:equivalentTo", source="DOID:0040084"} xref: ICD9:481 {source="DOID:0040084"} xref: ICD9:482.30 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:482.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D011018 {source="EFO:0007499", source="MONDO:equivalentTo"} xref: MeSH:D011018 xref: MONDO:0005972 xref: SCTID:233607000 {source="MONDO:equivalentTo"} xref: UMLS:C0155862 {source="MONDO:equivalentTo"} is_a: EFO:0000772 {source="MESH:D011018", source="MONDO:Redundant"} ! pneumococcal infection is_a: EFO:1001272 {source="DOID:0040084", source="MESH:D011018", source="MONDO:Redundant"} ! bacterial pneumonia property_value: exactMatch DOID:0040084 property_value: exactMatch http://identifiers.org/mesh/D011018 property_value: exactMatch http://identifiers.org/snomedct/233607000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155862 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/J13 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007500 name: Strongylida infectious disease def: "A Rhabditida infectious disease that involves parasitic infection of gastrointestinal tracts of ruminants, horses, cats, dogs, swine and humans by nematodes belonging to the suborder Strongylida." [] def: "Infections with nematodes of the order strongylida." [MESH:D017206] synonym: "Strongylida Infections" EXACT [] synonym: "Strongylida infectious disease" EXACT [] {comment="preferred label from MONDO"} xref: DOID:1845 xref: MESH:D017206 {source="EFO:0007500", source="MONDO:equivalentTo"} xref: MeSH:D017206 xref: MONDO:0005973 is_a: EFO:0007391 ! Nematoda infectious disease property_value: exactMatch http://identifiers.org/mesh/D017206 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007501 name: strongyloidiasis def: "A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis." [] def: "An infection that is caused by nematodes of the genus Strongyloides, most commonly Strongyloides stercoralis, which is a soil-transmitted helminth, and which is characterized by a variety of gastrointestinal, dermatologic, and, occasionally, pulmonary manifestations. The worm's autoinfective life cycle can lead to hyper-infection and life-threatening dissemination in immunocompromised hosts decades after initial infection." [NCIT:C128398] subset: ordo_disease {source="Orphanet:76"} synonym: "Anguilluliasis" EXACT [Orphanet:76] synonym: "Anguillulosis" EXACT [Orphanet:76] synonym: "disseminated strongyloidiasis" EXACT [DOID:10955] synonym: "infection by Strongyloides" EXACT [DOID:10955] synonym: "Infection by Strongyloides (disorder)" EXACT [] synonym: "Strongyloidiasis" EXACT [] synonym: "strongyloidiasis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:10955 {source="EFO:0007501", source="MONDO:equivalentTo"} xref: ICD10:B78 xref: ICD9:127.2 {source="DOID:10955"} xref: MedDRA:10042254 {source="Orphanet:76", source="Orphanet:76/e"} xref: MESH:D013322 {source="Orphanet:76", source="EFO:0007501", source="DOID:10955", source="MONDO:equivalentTo", source="Orphanet:76/e"} xref: MeSH:D013322 xref: MONDO:0005974 xref: NCIT:C128398 {source="MONDO:equivalentTo"} xref: Orphanet:76 {source="MONDO:equivalentTo"} xref: SCTID:187176005 {source="MONDO:equivalentTo"} xref: UMLS:C0038463 {source="Orphanet:76", source="NCIT:C128398", source="DOID:10955", source="MONDO:equivalentTo", source="Orphanet:76/e"} xref: UMLS:C0085810 {source="Orphanet:76", source="MONDO:equivalentTo"} xref: UMLS:C0348996 {source="MONDO:equivalentTo"} is_a: EFO:0007468 {source="MESH:D013322", source="MONDO:indirect"} ! Rhabditida infectious disease is_a: EFO:0007500 ! Strongylida infectious disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare property_value: closeMatch http://identifiers.org/meddra/10042254 property_value: exactMatch DOID:10955 property_value: exactMatch http://identifiers.org/mesh/D013322 property_value: exactMatch http://identifiers.org/snomedct/187176005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038463 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085810 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0348996 property_value: exactMatch NCIT:C128398 property_value: exactMatch Orphanet:76 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007502 name: subacute sclerosing panencephalitis def: "A chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex." [Orphanet:2806] def: "A viral infectious disease that results_in infection located_in brain, has_material_basis_in Measles virus which is immune resistant (which can be a result of a mutation of the virus itself)." [] subset: gard_rare {source="GARD:0007708"} subset: ordo_disease {source="Orphanet:2806"} synonym: "Dawson disease" RELATED [GARD:0007708] synonym: "Dawson encephalitis" RELATED [GARD:0007708] synonym: "Dawson's encephalitis" EXACT [Orphanet:2806] synonym: "Immunosuppressive measles encephalitis" EXACT [DOID:8970] synonym: "panencephalitis, SUBACUTE sclerosing" RELATED [OMIM:260470] synonym: "SSPE" EXACT ABBREVIATION [Orphanet:2806] synonym: "Subacute inclusion body encephalitis" EXACT [Orphanet:2806] synonym: "Subacute sclerosing leukoencephalitis" RELATED [Orphanet:2806] synonym: "subacute sclerosing leukoencephalopathy" EXACT [DOID:8970] synonym: "Subacute Sclerosing Panencephalitis" EXACT [] synonym: "Subacute sclerosing panencephalitis" EXACT [DOID:8970, MTH:NOCODE, Orphanet:2806] synonym: "subacute sclerosing panencephalitis" EXACT [] {comment="preferred label from MONDO"} synonym: "subacute sclerosing panencephalitis" EXACT [OMIM:260470] synonym: "Subacute sclerosing panencephalitis (disorder)" EXACT [] synonym: "Subacute sclerosing panencephalitis (disorder) [Ambiguous]" EXACT [] synonym: "Subacute sclerosing panencephalitis (disorder) [ambiguous]" EXACT [DOID:8970] synonym: "Van Bogaert disease" EXACT [Orphanet:2806] synonym: "Van Bogaert encephalitis" EXACT [Orphanet:2806] synonym: "Van Bogaert's sclerosing leukoencephalitis" EXACT [DOID:8970] synonym: "Van Bogaert's sclerosing leukoencephalitis (disorder)" EXACT [] xref: DOID:8970 {source="EFO:0007502", source="MONDO:equivalentTo"} xref: ICD10CM:A81.1 {source="MONDO:equivalentTo", source="Orphanet:2806/ntbt", source="DOID:8970", source="Orphanet:2806"} xref: ICD9:046.2 {source="DOID:8970"} xref: MedDRA:10042297 xref: MESH:D013344 {source="EFO:0007502", source="MONDO:equivalentTo", source="DOID:8970"} xref: MeSH:D013344 xref: MONDO:0009835 xref: NCIT:C85171 {source="MONDO:equivalentTo", source="DOID:8970"} xref: OMIM:260470 {source="Orphanet:2806/e", source="MONDO:equivalentTo", source="DOID:8970", source="Orphanet:2806"} xref: Orphanet:2806 {source="MONDO:equivalentTo", source="OMIM:260470"} xref: UMLS:C0038522 {source="NCIT:C85171", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:260470", source="DOID:8970", source="Orphanet:2806"} is_a: EFO:0007538 {source="MONDO:Redundant", source="NCIT:C85171"} ! viral encephalitis is_a: MONDO:0020069 {source="Orphanet:2806"} ! chronic encephalitis property_value: exactMatch DOID:8970 property_value: exactMatch http://identifiers.org/mesh/D013344 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038522 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A81.1 property_value: exactMatch https://omim.org/entry/260470 property_value: exactMatch NCIT:C85171 property_value: exactMatch Orphanet:2806 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7708/subacute-sclerosing-panencephalitis xsd:anyURI {source="GARD:0007708"} [Term] id: EFO:0007503 name: suppurative otitis media def: "A otitis media which involves inflammation of the middle ear with infected effusion containing pus." [] def: "Inflammation of the middle ear with purulent discharge." [MESH:D010035] synonym: "Otitis media with effusion - purulent" EXACT [] synonym: "otitis media with effusion - purulent" EXACT [DOID:11506] synonym: "Otitis Media, Suppurative" EXACT [] synonym: "purulent otitis media" EXACT [DOID:11506] synonym: "Purulent otitis media (disorder)" EXACT [] synonym: "Purulent otitis media NOS" EXACT [] synonym: "Purulent otitis media NOS (disorder)" EXACT [] synonym: "Suppurative and unspecified otitis media" EXACT [] synonym: "Suppurative and unspecified otitis media (disorder)" EXACT [] synonym: "Suppurative otitis med." EXACT [] synonym: "Suppurative otitis media" EXACT [] synonym: "suppurative otitis media" EXACT [] {comment="preferred label from MONDO"} synonym: "Suppurative otitis media &/or ([left] or [right]) &/or purulent otitis media" EXACT [] synonym: "Unspecified suppurative otitis media" EXACT [] xref: DOID:11506 {source="EFO:0007503", source="MONDO:equivalentTo"} xref: ICD10:H66 xref: ICD9:382 {source="DOID:11506"} xref: ICD9:382.4 {source="MONDO:equivalentTo", source="DOID:11506", source="MONDO:i2s"} xref: MESH:D010035 {source="EFO:0007503", source="MONDO:equivalentTo", source="DOID:11506"} xref: MeSH:D010035 xref: MONDO:0005975 xref: SCTID:39288006 {source="MONDO:equivalentTo", source="DOID:11506"} xref: UMLS:C0029888 {source="MONDO:equivalentTo", source="DOID:11506"} is_a: EFO:0004992 {source="DOID:11506", source="EFO:0007503", source="MESH:D010035"} ! Otitis media property_value: exactMatch DOID:11506 property_value: exactMatch http://identifiers.org/mesh/D010035 property_value: exactMatch http://identifiers.org/snomedct/39288006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029888 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007504 name: syphilis def: "A contagious bacterial infection caused by the spirochete Treponema pallidum. It is a sexually transmitted disorder, although it can also be transmitted from the mother to the fetus in utero. Typically, it is initially manifested with a single sore which heals without treatment. If the infection is left untreated, the initial stage is followed by skin rash and mucous membrane lesions. A late stage follows, which is characterized by damage of the internal organs, including the nervous system." [NCIT:P378] def: "A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years." [] comment: A contagious venereal disease caused by the spirochete TREPONEMA PALLIDUM. synonym: "syphilis" EXACT [] {comment="preferred label from MONDO"} synonym: "syphilitic chancre" EXACT [DOID:4166] synonym: "Treponema pallidum caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Treponema pallidum disease or disorder" EXACT [] synonym: "Treponema pallidum infectious disease" EXACT [] xref: DOID:4166 {source="EFO:0007504", source="MONDO:equivalentTo"} xref: ICD10:A51 xref: ICD10:A53 xref: ICD9:097.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10042894 xref: MedDRA:10042895 xref: MedDRA:10042896 xref: MedDRA:10042901 xref: MedDRA:10062120 {source="EFO:0007504"} xref: MESH:D013587 {source="EFO:0007504", source="MONDO:equivalentTo"} xref: MeSH:D013587 xref: MONDO:0005976 xref: NCIT:C35055 {source="EFO:0007504", source="MONDO:equivalentTo"} xref: NCIt:C35055 xref: SCTID:76272004 {source="EFO:0007504", source="MONDO:equivalentTo"} xref: SNOMEDCT:76272004 is_a: EFO:1001217 {source="MESH:D013587", source="MONDO:Redundant", source="NCIT:C35055"} ! Treponema infectious disease is_a: MONDO:0000314 {source="DOID:4166", source="MONDO:Redundant"} ! primary bacterial infectious disease property_value: closeMatch http://identifiers.org/meddra/10062120 property_value: exactMatch DOID:4166 property_value: exactMatch http://identifiers.org/mesh/D013587 property_value: exactMatch http://identifiers.org/snomedct/76272004 property_value: exactMatch NCIT:C35055 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007505 name: tabes dorsalis def: "A form of neurosyphilis characterized by slowly progressive degeneration of the spinal cord. Signs and symptoms include pain, ataxia, loss of coordination, personality changes, blindness, urinary incontinence, dementia, and degeneration of the joints." [NCIT:P378] def: "A tertiary neurosyphilis that results_in slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The infection has_symptom intense, stabbing pain in the back and legs that recurs irregularly, has_symptom gait ataxia, has_symptom hyperesthesia, has_symptom paresthesia, has_symptom loss of bladder sensation leading to urine retention, has_symptom erectile dysfunction." [] synonym: "Posterior spinal sclerosis" EXACT [] synonym: "posterior spinal sclerosis" EXACT [DOID:10027] synonym: "syphilitic myelopathy" RELATED [GARD:0008730] synonym: "Tabes Dorsalis" EXACT [] synonym: "tabes dorsalis" EXACT [] {comment="preferred label from MONDO"} synonym: "Tabes dorsalis - neurosyphilis" EXACT [] synonym: "tabes dorsalis - neurosyphilis" EXACT [DOID:10027] xref: DOID:10027 {source="MONDO:equivalentTo", source="EFO:0007505"} xref: ICD10CM:A52.11 {source="DOID:10027", source="MONDO:equivalentTo"} xref: ICD9:094.0 {source="DOID:10027", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10043069 xref: MESH:D013606 {source="DOID:10027", source="MONDO:equivalentTo", source="EFO:0007505"} xref: MeSH:D013606 xref: MONDO:0005977 xref: NCIT:C35057 {source="DOID:10027", source="MONDO:equivalentTo"} xref: SCTID:316841006 {source="DOID:10027", source="MONDO:equivalentTo"} xref: UMLS:C0039223 {source="DOID:10027", source="MONDO:equivalentTo", source="NCIT:C35057"} is_a: MONDO:0004944 {source="DOID:10027", source="NCIT:C35057"} ! neurosyphilis is_a: MONDO:0020010 {source="MONDO:Redundant"} ! infectious disorder of the nervous system property_value: exactMatch DOID:10027 property_value: exactMatch http://identifiers.org/mesh/D013606 property_value: exactMatch http://identifiers.org/snomedct/316841006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039223 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A52.11 property_value: exactMatch NCIT:C35057 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007506 name: theileriasis def: "A parasitic protozoa infectious disease that involves infection of humans and cattle caused by a genus of parasitic protozoa Theileria, which is transmitted by ixodid ticks." [] def: "Infection of cattle, sheep, or goats with protozoa of the genus theileria. This infection results in an acute or chronic febrile condition." [MESH:D013801] synonym: "infection by Theileria" EXACT [DOID:3733] synonym: "Infection by Theileria (disorder)" EXACT [] synonym: "Theileriasis" EXACT [] synonym: "theileriasis" EXACT [] {comment="preferred label from MONDO"} synonym: "theileriosis" EXACT [DOID:3733] xref: DOID:3733 {source="EFO:0007506", source="MONDO:equivalentTo"} xref: ICD9:136.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D013801 {source="DOID:3733", source="EFO:0007506", source="MONDO:equivalentTo"} xref: MeSH:D013801 xref: MONDO:0005978 xref: SCTID:68771000 {source="DOID:3733", source="MONDO:equivalentTo"} xref: UMLS:C0039753 {source="DOID:3733", source="MONDO:equivalentTo"} is_a: MONDO:0002428 {source="DOID:3733", source="MESH:D013801/inferred"} ! protozoa infectious disease property_value: exactMatch DOID:3733 property_value: exactMatch http://identifiers.org/mesh/D013801 property_value: exactMatch http://identifiers.org/snomedct/68771000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039753 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007507 name: thoracic outlet syndrome def: "A syndrome resulting from the compression of the blood vessels or nerves in the space between the clavicle and first rib (thoracic outlet). It is caused by car accident injuries or repetitive job or sport-related injuries. Signs and symptoms include pain in the shoulders and neck, numbness in the fingers, and weakening grip." [NCIT:P378] def: "A vascular disease that is characterized by compression at the superior thoracic outlet[1] resulting from excess pressure placed on a neurovascular bundle passing between the anterior scalene and middle scalene muscles." [] subset: ordo_disease {source="Orphanet:97330"} synonym: "thoracic outlet compression syndrome" EXACT [Orphanet:97330] synonym: "Thoracic Outlet Syndrome" EXACT [] synonym: "thoracic outlet syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "TOS" EXACT ABBREVIATION [Orphanet:97330] synonym: "TOS - Thoracic outlet syndrome" EXACT [] synonym: "TOS - thoracic outlet syndrome" EXACT [DOID:3103] xref: DOID:3103 {source="MONDO:equivalentTo", source="EFO:0007507"} xref: MedDRA:10048627 {source="Orphanet:97330/e", source="Orphanet:97330"} xref: MESH:D013901 {source="DOID:3103", source="Orphanet:97330/e", source="MONDO:equivalentTo", source="EFO:0007507", source="Orphanet:97330"} xref: MeSH:D013901 xref: MONDO:0005979 xref: NCIT:C85188 {source="DOID:3103", source="MONDO:equivalentTo"} xref: Orphanet:97330 {source="MONDO:equivalentTo"} xref: SCTID:128210009 {source="DOID:3103", source="MONDO:equivalentTo"} xref: UMLS:C0039984 {source="DOID:3103", source="Orphanet:97330/e", source="MONDO:equivalentTo", source="NCIT:C85188", source="Orphanet:97330"} is_a: EFO:0000618 ! nervous system disease is_a: EFO:0004264 {source="DOID:3103", source="EFO:0007507", source="MESH:D013901", source="MONDO:Redundant"} ! vascular disease is_a: MONDO:0002254 {source="NCIT:C85188"} ! syndromic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0020002"} ! rare property_value: closeMatch http://identifiers.org/meddra/10048627 property_value: exactMatch DOID:3103 property_value: exactMatch http://identifiers.org/mesh/D013901 property_value: exactMatch http://identifiers.org/snomedct/128210009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039984 property_value: exactMatch NCIT:C85188 property_value: exactMatch Orphanet:97330 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007508 name: tick infestation def: "A parasitic ectoparasitic infectious disease that involves parasitic infestation of blood feeding ticks of the families Ixodidae and Argasidae on animals and humans. Ticks are vectors of a number diseases, including Lyme disease, Q fever, Colorado tick fever, tularemia, tick-borne relapsing fever, babesiosis, ehrlichiosis and tick-borne meningoencephalitis, as well as anaplasmosis in cattle and canine jaundice." [] def: "Infestations with soft-bodied (Argasidae) or hard-bodied (Ixodidae) ticks." [MESH:D013984] synonym: "Ixodoidea caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Ixodoidea disease or disorder" EXACT [] synonym: "Ixodoidea infectious disease" EXACT [] synonym: "tick infestation" EXACT [] {comment="preferred label from MONDO"} synonym: "Tick Infestations" EXACT [] xref: DOID:4109 {source="MONDO:equivalentTo", source="EFO:0007508"} xref: MESH:D013984 {source="MONDO:equivalentTo", source="DOID:4109", source="EFO:0007508"} xref: MeSH:D013984 xref: MONDO:0005980 xref: UMLS:C0040196 {source="MONDO:equivalentTo", source="DOID:4109"} is_a: MONDO:0002875 {source="DOID:4109", source="MESH:D013984"} ! parasitic ectoparasitic infectious disease property_value: exactMatch DOID:4109 property_value: exactMatch http://identifiers.org/mesh/D013984 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040196 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007509 name: tick paralysis def: "A tick infestation that is characterized by an acute, ascending, flaccid motor paralysis, which is caused by the introduction of a neurotoxin into humans during attachment and feeding by the females of several tick species such as Dermacentor andersoni, Dermacentor variabilis, Amblyomma americanum, Amblyomma maculatum, Ixodes scapularis, Ixodes pacificus, Ixodes holocyclus, Rhipicephalus sanguineus and Otobius megnini. The symptoms include local inflammation, edema and hemorrhage." [] def: "Paralysis caused by a neurotropic toxin secreted by the salivary glands of ticks." [MESH:D013985] subset: gard_rare {source="GARD:0007771"} synonym: "Tick Paralysis" EXACT [] synonym: "Tick paralysis" EXACT [] synonym: "tick paralysis" EXACT [] {comment="preferred label from MONDO"} synonym: "Tick paralysis (disorder)" EXACT [] xref: DOID:11285 {source="MONDO:equivalentTo", source="EFO:0007509"} xref: MedDRA:10077336 xref: MESH:D013985 {source="MONDO:equivalentTo", source="DOID:11285", source="EFO:0007509"} xref: MeSH:D013985 xref: MONDO:0005981 xref: SCTID:74225001 {source="MONDO:equivalentTo", source="DOID:11285"} xref: UMLS:C0040197 {source="MONDO:equivalentTo", source="DOID:11285"} is_a: EFO:0007508 {source="DOID:11285", source="MONDO:Redundant"} ! tick infestation is_a: MONDO:0020010 ! infectious disorder of the nervous system property_value: exactMatch DOID:11285 property_value: exactMatch http://identifiers.org/mesh/D013985 property_value: exactMatch http://identifiers.org/snomedct/74225001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040197 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7771/tick-paralysis xsd:anyURI {source="GARD:0007771"} [Term] id: EFO:0007510 name: tinea def: "A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair, and located_in nail, has_material_basis_in Epidermophyton, has_material_basis_in Microsporum, or has_material_basis_in Trichophyton, which invade the dead keratin and has_symptom itchy patches, and has_symptom red rash on the skin." [] def: "A skin infection caused by a fungus." [NCIT:C112181] comment: Editor note: consider obsoleting as this is a loose grouping synonym: "Dermatophytosis-tinea/ringworm" EXACT [] synonym: "Microsporic tinea, NOS" EXACT [] synonym: "ringworm" EXACT [] synonym: "ringworm" RELATED [Wikipedia:Tinea] synonym: "Tinea" EXACT [NCIT:C112181] synonym: "Tinea caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Tinea disease or disorder" EXACT [] synonym: "Tinea infection" EXACT [NCIT:C112181] synonym: "tinea infection" EXACT [] {comment="preferred label from MONDO"} synonym: "Tinea infectious disease" EXACT [] xref: DOID:12404 {source="EFO:0007510", source="MONDO:equivalentObsolete"} xref: MedDRA:10043864 xref: MeSH:D014005 xref: MONDO:0005982 xref: NCIT:C112181 {source="MONDO:equivalentTo"} xref: UMLS:C0040247 {source="NCIT:C112181", source="MONDO:equivalentTo"} is_a: MONDO:0000254 ! cutaneous mycosis is_a: MONDO:0021201 {source="NCIT:C112181"} ! skin infection property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040247 property_value: exactMatch NCIT:C112181 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007511 name: tinea favosa def: "A severe, chronic fungal skin infection, usually of the scalp, characterized by the development of thick, yellow cup-shaped crusts and scarring over hair follicles." [NCIT:C35072] def: "A tinea capitis that results_in fungal infection located_in scalp, located_in glabrous skin or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and results_in_formation_of scutula, yellowish cup-shaped crusts of dense masses of mycelium and epithelial debris, which develop at the surface of a hair follicle with the shaft in the center of the raised lesion. Removal of these crusts reveals an oozing, moist, red base. Later, atrophy of the skin occurs leaving a cicatricial alopecia and scarring." [] synonym: "Favus" EXACT [] synonym: "favus" EXACT [DOID:4336, NCIT:C35072] synonym: "Favus NOS" EXACT [] synonym: "Tinea Favosa" EXACT [] synonym: "tinea favosa" EXACT [] {comment="preferred label from MONDO"} synonym: "Tinea favosa (disorder)" EXACT [] xref: DOID:4336 {source="EFO:0007511", source="MONDO:equivalentTo"} xref: ICD10CM:B35 {source="MONDO:relatedTo", source="DOID:4336"} xref: MESH:D014007 {source="EFO:0007511", source="DOID:4336", source="MONDO:equivalentTo"} xref: MeSH:D014007 xref: MONDO:0005983 xref: NCIT:C35072 {source="DOID:4336", source="MONDO:equivalentTo"} xref: SCTID:85375000 {source="DOID:4336", source="MONDO:equivalentTo"} xref: UMLS:C0040254 {source="DOID:4336", source="MONDO:equivalentTo", source="NCIT:C35072"} is_a: EFO:0007510 ! tinea property_value: exactMatch DOID:4336 property_value: exactMatch http://identifiers.org/mesh/D014007 property_value: exactMatch http://identifiers.org/snomedct/85375000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040254 property_value: exactMatch NCIT:C35072 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007512 name: tinea pedis def: "A dermatophytosis that results_in fungal infection located_in skin of foot, especially between the toes, has_material_basis_in Trichophyton or has_material_basis_in Epidermophyton and has_symptom fissures, has_symptom scaling, has_symptom maceration, and eroded areas between the toes and on the plantar surface of the foot." [] def: "Dermatological pruritic lesion in the feet, caused by Trichophyton rubrum, T. mentagrophytes, or Epidermophyton floccosum." [MESH:D014008] synonym: "Athlete's foot" EXACT [] synonym: "athlete's foot" EXACT [DOID:12403] synonym: "Dermatophytosis of foot" EXACT [] synonym: "dermatophytosis of foot" EXACT [DOID:12403, ICD9CM:110.4] synonym: "Dermatophytosis of foot (& tinea pedis)" EXACT [] synonym: "Dermatophytosis of foot (disorder)" EXACT [] synonym: "dermatophytosis of pes" EXACT [MONDO:design_pattern] synonym: "pes dermatophytosis" EXACT [MONDO:patterns/location] synonym: "ringworm of foot" RELATED [DOID:12403] synonym: "Tinea Pedis" EXACT [] synonym: "Tinea pedis" EXACT [] synonym: "tinea pedis" EXACT [] {comment="preferred label from MONDO"} synonym: "Tinea pedis (disorder)" EXACT [] xref: DOID:12403 {source="EFO:0007512", source="MONDO:equivalentTo"} xref: ICD10CM:B35.3 {source="DOID:12403", source="MONDO:equivalentTo"} xref: ICD9:110.4 {source="DOID:12403", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10043873 xref: MESH:D014008 {source="DOID:12403", source="EFO:0007512", source="MONDO:equivalentTo"} xref: MeSH:D014008 xref: MONDO:0005984 xref: SCTID:6020002 {source="DOID:12403", source="MONDO:equivalentTo"} xref: UMLS:C0040259 {source="DOID:12403", source="MONDO:equivalentTo"} is_a: MONDO:0004678 {source="DOID:12403", source="ICD10CM:B35.3", source="MONDO:Redundant"} ! dermatophytosis property_value: exactMatch DOID:12403 property_value: exactMatch http://identifiers.org/mesh/D014008 property_value: exactMatch http://identifiers.org/snomedct/6020002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040259 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B35.3 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007513 name: Togaviridae infectious disease def: "A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Togaviridae viruses." [] def: "Virus diseases caused by the togaviridae." [MESH:D014036] synonym: "Togaviridae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Togaviridae disease or disorder" EXACT [] synonym: "Togaviridae Infections" EXACT [] synonym: "Togaviridae infectious disease" EXACT [] {comment="preferred label from MONDO"} xref: DOID:4865 xref: MESH:D014036 {source="EFO:0007513", source="MONDO:equivalentTo"} xref: MeSH:D014036 xref: MONDO:0005985 xref: UMLS:C0040361 {source="MONDO:equivalentTo"} is_a: MONDO:0100329 ! primary viral infectious disease property_value: exactMatch http://identifiers.org/mesh/D014036 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040361 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007514 name: Torovirus infectious disease def: "A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Torovirus, which is transmitted_by ingestion of food contaminated with feces." [] def: "Infections with viruses of the genus torovirus, family coronaviridae." [MESH:D018176] synonym: "Torovirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Torovirus disease or disorder" EXACT [] synonym: "Torovirus Infections" EXACT [] synonym: "Torovirus infectious disease" EXACT [] synonym: "torovirus infectious disease" EXACT [] {comment="preferred label from MONDO"} xref: DOID:4088 xref: MESH:D018176 {source="EFO:0007514", source="MONDO:equivalentTo"} xref: MeSH:D018176 xref: MONDO:0005986 xref: UMLS:C0206607 {source="MONDO:equivalentTo"} is_a: EFO:0007396 ! Nidovirales infectious disease property_value: exactMatch http://identifiers.org/mesh/D018176 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206607 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007515 name: toxascariasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of dogs, cats and foxes with Toxascaris leonina causing damage to the lining of the intestine. The symptoms include diarrhea, vomiting and loss of appetite." [] def: "Infections with nematodes of the genus toxascaris." [MESH:D017227] synonym: "Toxascariasis" EXACT [] synonym: "toxascariasis" EXACT [] {comment="preferred label from MONDO"} synonym: "Toxascaris caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Toxascaris disease or disorder" EXACT [] synonym: "Toxascaris infectious disease" EXACT [] xref: DOID:3107 {source="EFO:0007515", source="MONDO:equivalentTo"} xref: MESH:D017227 {source="EFO:0007515", source="MONDO:equivalentTo", source="DOID:3107"} xref: MeSH:D017227 xref: MONDO:0005987 xref: UMLS:C0040522 {source="MONDO:equivalentTo", source="DOID:3107"} is_a: EFO:0007156 ! Ascaridida infectious disease property_value: exactMatch DOID:3107 property_value: exactMatch http://identifiers.org/mesh/D017227 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040522 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007516 name: toxocariasis def: "A parasitic helminthiasis infectious disease that involves zoonotic infection of humans by the larvae of Toxocara canis or Toxocara cati. The larvae invade multiple tissues like liver, heart, lungs, brain, muscle and eyes causing various symptoms including fever, anorexia, weight loss, cough, wheezing, rashes, hepatosplenomegaly, hypereosinophilia and ophthalmologic lesions." [] def: "A parasitic infection caused by worms found in domestic animals. In humans nematode larvae enter the portal system from the small intestine and disseminate in visceral organs causing inflammatory reactions. Signs and symptoms include eosinophilia, hepatomegaly, splenomegaly, and lung infections." [NCIT:P378] subset: ordo_disease {source="Orphanet:3343"} synonym: "infection by Toxascaris" EXACT [DOID:9790] synonym: "Infection by Toxascaris (disorder)" EXACT [] synonym: "Larva Migrans, Visceral" EXACT [] synonym: "Toxocara caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Toxocara disease or disorder" EXACT [] synonym: "Toxocara infection" EXACT [DOID:9790] synonym: "Toxocara infectious disease" EXACT [] synonym: "toxocariasis" EXACT [] {comment="preferred label from MONDO"} synonym: "visceral larva migrans" EXACT [DOID:9790] xref: DOID:9790 {source="MONDO:equivalentTo", source="EFO:0007516"} xref: ICD9:128.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10044269 {source="Orphanet:3343", source="Orphanet:3343/e"} xref: MeSH:D007816 xref: MESH:D014120 {source="Orphanet:3343", source="MONDO:equivalentTo", source="Orphanet:3343/e"} xref: MONDO:0005988 xref: NCIT:C34758 {source="MONDO:equivalentTo", source="DOID:9790"} xref: NCIT:C85194 {source="MONDO:equivalentTo"} xref: Orphanet:3343 {source="MONDO:equivalentTo"} xref: SCTID:406619001 {source="MONDO:equivalentTo"} xref: UMLS:C0040553 {source="Orphanet:3343", source="MONDO:equivalentTo", source="Orphanet:3343/e"} is_a: EFO:0007156 ! Ascaridida infectious disease relationship: disease_has_feature MONDO:0001941 {source="MONDO:Wikidata"} ! blindness (disorder) relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare property_value: closeMatch http://identifiers.org/meddra/10044269 property_value: exactMatch DOID:9790 property_value: exactMatch http://identifiers.org/mesh/D014120 property_value: exactMatch http://identifiers.org/snomedct/406619001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040553 property_value: exactMatch NCIT:C34758 property_value: exactMatch NCIT:C85194 property_value: exactMatch Orphanet:3343 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007517 name: toxoplasmosis def: "A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia." [] def: "A parasitic disease contracted by the ingestion or fetal transmission of toxoplasma gondii." [NCIT:P378] synonym: "disseminated toxoplasmosis" EXACT [DOID:9965] synonym: "T. gondii infection" EXACT [] synonym: "Toxoplasma gondii caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Toxoplasma gondii disease or disorder" EXACT [] synonym: "Toxoplasma gondii infectious disease" EXACT [] synonym: "Toxoplasmosis" EXACT [] synonym: "toxoplasmosis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:9965 {source="EFO:0007517", source="MONDO:equivalentTo"} xref: ICD10:B58 xref: ICD10CM:B58 {source="DOID:9965", source="MONDO:equivalentTo"} xref: ICD9:130 {source="DOID:9965"} xref: ICD9:130.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:130.9 {source="DOID:9965", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10044272 xref: MedDRA:10044275 xref: MESH:D014123 {source="DOID:9965", source="EFO:0007517", source="MONDO:equivalentTo"} xref: MeSH:D014123 xref: MONDO:0005989 xref: NCIT:C3418 {source="DOID:9965", source="MONDO:equivalentTo"} xref: SCTID:187192000 {source="DOID:9965", source="MONDO:equivalentTo"} xref: UMLS:C0040558 {source="NCIT:C3418", source="DOID:9965", source="MONDO:equivalentTo"} is_a: EFO:0007212 {source="DOID:9965", source="MESH:D014123"} ! coccidiosis property_value: exactMatch DOID:9965 property_value: exactMatch http://identifiers.org/mesh/D014123 property_value: exactMatch http://identifiers.org/snomedct/187192000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040558 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B58 property_value: exactMatch NCIT:C3418 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007518 name: tracheitis alt_id: MONDO:0020691 def: "A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions." [DOID:9392] synonym: "acute tracheitis" EXACT [DOID:9392, ICD9CM:464.1] synonym: "acute tracheitis (disorder)" EXACT [] synonym: "acute tracheitis NOS (disorder)" EXACT [] synonym: "chronic tracheitis" EXACT [DOID:9392] synonym: "inflammation of tracheal mucosa" EXACT [] synonym: "tracheal Inflammation" EXACT [NCIT:C78643] synonym: "tracheal mucosa inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "Tracheitis" EXACT [] synonym: "tracheitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Tracheitis (disorder)" EXACT [] synonym: "Tracheitis, NOS" EXACT [] xref: DOID:9392 {source="MONDO:equivalentTo", source="EFO:0007518"} xref: ICD10CM:J04.1 {source="MONDO:equivalentTo", source="DOID:9392"} xref: ICD9:464.1 {source="DOID:9392"} xref: MedDRA:10044302 xref: MESH:D014136 {source="MONDO:equivalentTo", source="DOID:9392", source="EFO:0007518"} xref: MeSH:D014136 xref: MONDO:0005990 xref: NCIT:C78643 {source="MONDO:equivalentTo", source="DOID:9392"} xref: SCTID:62994001 {source="MONDO:equivalentTo", source="DOID:9392"} xref: UMLS:C0040584 {source="MONDO:equivalentTo", source="DOID:9392", source="NCIT:C78643"} xref: UMLS:C0149513 {source="MONDO:equivalentTo", source="DOID:9392"} xref: UMLS:C0264322 {source="MONDO:equivalentTo"} is_a: EFO:0000771 {source="EFO:0007518"} ! bacterial disease is_a: MONDO:0002567 {source="DOID:9392", source="MESH:D014136", source="NCIT:C78643/inferred"} ! tracheal disorder is_a: MONDO:0021925 ! tracheobronchitis is_a: MONDO:0024355 ! respiratory tract infectious disorder property_value: exactMatch DOID:9392 property_value: exactMatch http://identifiers.org/mesh/D014136 property_value: exactMatch http://identifiers.org/snomedct/62994001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040584 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149513 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264322 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/J04.1 property_value: exactMatch NCIT:C78643 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007519 name: trench fever def: "A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted_by body lice (Pediculus humanus corporis). The infection has_symptom relapsing fever, has_symptom headache, has_symptom shin pain, and has_symptom soreness of the muscles of the legs and back." [] def: "An intermittent fever characterized by intervals of chills, fever, and splenomegaly each of which may last as long as 40 hours. It is caused by bartonella quintana and transmitted by the human louse." [MESH:D014205] subset: ordo_disease {source="Orphanet:64694"} synonym: "Bartonella quintana caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Bartonella quintana disease or disorder" EXACT [] synonym: "Bartonella quintana infectious disease" EXACT [] synonym: "bartonellosis due to Bartonella quintana infection" EXACT [Orphanet:64694] synonym: "fever, trench" RELATED [MESH:D014205] synonym: "fevers, trench" RELATED [MESH:D014205] synonym: "His-Werner disease" EXACT [DOID:11101] synonym: "Quintan fever" EXACT [] synonym: "quintan fever" EXACT [DOID:11101] synonym: "shin bone fever" EXACT [DOID:11101] synonym: "tibialgic fever" EXACT [DOID:11101] synonym: "Trench Fever" EXACT [] synonym: "Trench fever" EXACT [] synonym: "trench fever" EXACT [] {comment="preferred label from MONDO"} synonym: "trench fever" EXACT [DOID:11101, ICD9CM:083.1] synonym: "Trench fever (disorder)" EXACT [] synonym: "trench fevers" RELATED [MESH:D014205] synonym: "Wolhynian fever" EXACT [DOID:11101] xref: DOID:11101 {source="MONDO:equivalentTo", source="EFO:0007519"} xref: ICD10CM:A79.0 {source="Orphanet:64694/e", source="MONDO:equivalentTo", source="DOID:11101", source="Orphanet:64694"} xref: ICD9:083.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11101"} xref: MedDRA:10044582 {source="Orphanet:64694/e", source="Orphanet:64694"} xref: MESH:D014205 {source="Orphanet:64694/e", source="MONDO:equivalentTo", source="EFO:0007519", source="DOID:11101", source="Orphanet:64694"} xref: MeSH:D014205 xref: MONDO:0005991 xref: Orphanet:64694 {source="MONDO:equivalentTo"} xref: SCTID:82214002 {source="MONDO:equivalentTo", source="DOID:11101"} xref: UMLS:C0040830 {source="Orphanet:64694/e", source="MONDO:equivalentTo", source="DOID:11101", source="Orphanet:64694"} is_a: EFO:0007166 {source="DOID:11101", source="MESH:D014205", source="MONDO:Entailed", source="MONDO:Redundant"} ! bartonellosis is_a: MONDO:0100120 ! vector-borne disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare property_value: closeMatch http://identifiers.org/meddra/10044582 property_value: exactMatch DOID:11101 property_value: exactMatch http://identifiers.org/mesh/D014205 property_value: exactMatch http://identifiers.org/snomedct/82214002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040830 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A79.0 property_value: exactMatch Orphanet:64694 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007520 name: trichinosis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by Trichinella spiralis, Trichinella nativa or Trichinella britovi . Intestinal invasion causes diarrhea, abdominal pain and vomiting. Larval migration into muscle tissues can cause periorbital and facial edema, conjunctivitis, fever, myalgias, splinter hemorrhages, rashes, and blood eosinophilia. Myocarditis, central nervous system involvement, and pneumonitis can also occur." [] synonym: "Trichinella spiralis infection" EXACT [] synonym: "Trichinellosis" EXACT [] xref: DOID:9784 xref: MedDRA:10044609 xref: MeSH:D014235 is_a: EFO:0001067 ! parasitic infection property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007521 name: Trichomonas vaginitis def: "A sexually transmitted parasitic infection caused by Trichomonas vaginalis. Symptoms include vaginal discharge, vaginal odor, vaginal itching, and discomfort during intercourse." [NCIT:C35083] def: "A Trichomonas vaginalis trichomoniasis that involves inflammation of the vagina caused by Trichomonas vaginalis. The symptoms include foul vaginal odor, burning during urination, vaginal discharge and irritation of the genital area." [] synonym: "Leukorrhoea vaginalis - trichomonal" EXACT [] synonym: "Trichomonal leukorrhoea" EXACT [] synonym: "Trichomonal vaginitis &/or vulvovaginitis" EXACT [] synonym: "Trichomonal vaginitis (disorder)" EXACT [] synonym: "Trichomonal vulvovaginitis" EXACT [] synonym: "Trichomonal vulvovaginitis (disorder)" EXACT [] synonym: "Trichomonas vaginalis caused disease of genitourinary system" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Trichomonas vaginalis disease of genitourinary system" EXACT [] synonym: "Trichomonas vaginalis trichomoniasis" RELATED [DOID:0050269] synonym: "Trichomonas Vaginitis" EXACT [] synonym: "Trichomonas vaginitis" EXACT [NCIT:C35083] synonym: "Trichomonas vaginitis urogenital infection" EXACT [] {comment="preferred label from MONDO"} synonym: "urogenital infection by Trichomonas vaginalis" EXACT [] synonym: "urogenital infection caused by Trichomonas vaginalis" RELATED [] synonym: "urogenital Trichomonas" EXACT [DOID:0050269] synonym: "urogenital trichomoniasis" RELATED [] synonym: "vaginal trichomoniasis (disorder)" EXACT [] xref: DOID:0050269 {source="MONDO:equivalentTo"} xref: DOID:11943 xref: ICD10CM:A59.0 {source="MONDO:equivalentTo"} xref: ICD9:131.00 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:131.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D014247 {source="EFO:0007521", source="DOID:0050269", source="MONDO:equivalentTo"} xref: MeSH:D014247 xref: MONDO:0005993 xref: NCIT:C35083 {source="DOID:0050269", source="MONDO:equivalentTo"} xref: SCTID:35089004 {source="MONDO:equivalentTo"} is_a: DOID:1947 {source="DOID:0050269", source="EFO:0007521", source="ICD10CM:A59.0", source="MESH:D014247", source="MONDO:Redundant", source="NCIT:C35083"} ! trichomoniasis is_a: EFO:0003103 ! urinary tract infection is_a: EFO:0009549 ! female reproductive system disease is_a: MONDO:0021681 {source="ICD10CM:A59.0/inferred"} ! sexually transmitted disease property_value: exactMatch DOID:0050269 property_value: exactMatch http://identifiers.org/mesh/D014247 property_value: exactMatch http://identifiers.org/snomedct/35089004 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A59.0 property_value: exactMatch NCIT:C35083 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007522 name: trichostrongyloidiasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea." [] def: "Infection by roundworms of the superfamily trichostrongyloidea, including the genera trichostrongylus; ostertagia; Cooperia, haemonchus; Nematodirus, Hyostrongylus, and dictyocaulus." [MESH:D014252] synonym: "Trichostrongyloidea caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Trichostrongyloidea disease or disorder" EXACT [] synonym: "Trichostrongyloidea infectious disease" EXACT [] synonym: "Trichostrongyloidiasis" EXACT [] synonym: "trichostrongyloidiasis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:1255 {source="EFO:0007522", source="MONDO:equivalentTo"} xref: MESH:D014252 {source="EFO:0007522", source="DOID:1255", source="MONDO:equivalentTo"} xref: MeSH:D014252 xref: MONDO:0005994 xref: UMLS:C0040947 {source="DOID:1255", source="MONDO:equivalentTo"} is_a: EFO:0007500 ! Strongylida infectious disease property_value: exactMatch DOID:1255 property_value: exactMatch http://identifiers.org/mesh/D014252 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040947 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007523 name: trichostrongylosis def: "A trichostrongyloidiasis that involves infection of the small intestine with Trichostrongylus colubriformis or Trichostrongylus axei, which results in abdominal pain, diarrhea, anorexia, headache, fatigue, anemia and eosinophilia." [] def: "Infestation with nematode worms of the genus trichostrongylus. Humans become infected by swallowing larvae, usually with contaminated food or drink, although the larvae may penetrate human skin." [MESH:D014253-modified] synonym: "Infection by Trichostrongylus" EXACT [] synonym: "infection by Trichostrongylus" EXACT [DOID:1254] synonym: "Infection by Trichostrongylus species" EXACT [] synonym: "infection by Trichostrongylus species" EXACT [DOID:1254] synonym: "Trichostrongyliasis" EXACT [DOID:1254, ICD9CM:127.6] synonym: "Trichostrongylosis" EXACT [] synonym: "trichostrongylosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Trichostrongylus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Trichostrongylus disease or disorder" EXACT [] synonym: "Trichostrongylus infectious disease" EXACT [] xref: DOID:1254 {source="EFO:0007523", source="MONDO:equivalentTo"} xref: ICD10CM:B81.2 {source="DOID:1254", source="MONDO:equivalentTo"} xref: ICD9:127.6 {source="DOID:1254", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D014253 {source="DOID:1254", source="EFO:0007523", source="MONDO:equivalentTo"} xref: MeSH:D014253 xref: MONDO:0005995 xref: SCTID:33710003 {source="DOID:1254", source="MONDO:equivalentTo"} xref: UMLS:C0040948 {source="DOID:1254", source="MONDO:equivalentTo"} is_a: EFO:0007522 {source="DOID:1254", source="MESH:D014253", source="MONDO:Redundant"} ! trichostrongyloidiasis property_value: exactMatch DOID:1254 property_value: exactMatch http://identifiers.org/mesh/D014253 property_value: exactMatch http://identifiers.org/snomedct/33710003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040948 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B81.2 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007524 name: trichuriasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation." [] def: "An infection that is caused by the nematode Trichuris trichiura, a soil-transmitted helminth, which is transmitted via food and/or water contaminated with the eggs of the worm. Symptoms are usually mild and include abdominal pain, diarrhea, fatigue, and possibly anemia secondary to blood loss in diarrhea." [NCIT:C128399] subset: gard_rare {source="GARD:0010720"} synonym: "Infection by Trichuris trichura" EXACT [] synonym: "infection by Trichuris trichura" EXACT [DOID:1252] synonym: "trichocephaliasis" RELATED [GARD:0010720] synonym: "Trichuriasis" EXACT [] synonym: "trichuriasis" EXACT [] {comment="preferred label from MONDO"} synonym: "Trichuriasis (disorder)" EXACT [] synonym: "Trichuriasis infection" EXACT [] synonym: "trichuriasis infection" EXACT [DOID:1252, ICD9CM:127.3] synonym: "Trichuris trichiura caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Trichuris trichiura disease or disorder" EXACT [] synonym: "Trichuris trichiura infection" EXACT [DOID:1252] synonym: "trichuris trichiura infection" EXACT [] synonym: "Trichuris trichiura infectious disease" EXACT [] synonym: "Whipworm disease" EXACT [] synonym: "whipworm disease" EXACT [DOID:1252] synonym: "whipworm infection" RELATED [GARD:0010720] xref: DOID:1252 {source="EFO:0007524", source="MONDO:equivalentTo"} xref: ICD10CM:B79 {source="DOID:1252", source="MONDO:equivalentTo"} xref: ICD9:127.3 {source="DOID:1252", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10044630 xref: MESH:D014257 {source="DOID:1252", source="EFO:0007524", source="MONDO:equivalentTo"} xref: MeSH:D014257 xref: MONDO:0005996 xref: NCIT:C128399 {source="MONDO:equivalentTo"} xref: SCTID:3752003 {source="DOID:1252", source="MONDO:equivalentTo"} xref: UMLS:C0040954 {source="DOID:1252", source="NCIT:C128399", source="MONDO:equivalentTo"} is_a: EFO:0007253 ! Enoplea infectious disease is_a: EFO:0010282 ! gastrointestinal disease relationship: disease_has_feature EFO:1001869 {source="MONDO:Wikidata"} ! dysentery relationship: disease_has_feature MONDO:0001357 {source="MONDO:Wikidata"} ! hypochromic anemia property_value: exactMatch DOID:1252 property_value: exactMatch http://identifiers.org/mesh/D014257 property_value: exactMatch http://identifiers.org/snomedct/3752003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040954 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B79 property_value: exactMatch NCIT:C128399 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10720/trichuriasis xsd:anyURI {source="GARD:0010720"} [Term] id: EFO:0007525 name: tricuspid valve stenosis def: "A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve." [] def: "Narrowing or stricture of the tricuspid orifice of the heart." [NCIT:P378] synonym: "Tricuspid stenosis" EXACT [] synonym: "tricuspid stenosis" EXACT [DOID:4078] synonym: "Tricuspid Valve Stenosis" EXACT [] synonym: "tricuspid valve stenosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Tricuspid valve stenosis (disorder)" EXACT [] xref: DOID:4078 {source="EFO:0007525", source="MONDO:equivalentTo"} xref: HP:0010446 {source="MONDO:otherHierarchy"} xref: MedDRA:10044642 xref: MESH:D014264 {source="DOID:4078", source="EFO:0007525", source="MONDO:equivalentTo"} xref: MeSH:D014264 xref: MONDO:0005997 xref: NCIT:C50783 {source="DOID:4078", source="MONDO:equivalentTo", source="MONDO:otherHierarchy"} xref: SCTID:49915006 {source="DOID:4078", source="MONDO:equivalentTo"} xref: UMLS:C0040963 {source="DOID:4078", source="MONDO:equivalentTo"} is_a: EFO:0005775 {source="EFO:0007525"} ! aortic disease is_a: EFO:0009531 ! aortic valve disease is_a: EFO:0009568 {source="DOID:4078"} ! tricuspid valve disease property_value: exactMatch DOID:4078 property_value: exactMatch http://identifiers.org/mesh/D014264 property_value: exactMatch http://identifiers.org/snomedct/49915006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040963 property_value: exactMatch NCIT:C50783 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007526 name: trombiculiasis def: "A mite infestation that involves rash caused by Leptotrombidium deliense." [] def: "Infestation with mites of the genus Trombiculidae, whose larvae carry the rickettsial agent of scrub typhus." [MESH:D014323-modified] synonym: "Trombiculiasis" EXACT [] synonym: "trombiculiasis" EXACT [] {comment="preferred label from MONDO"} synonym: "Trombiculidae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Trombiculidae disease or disorder" EXACT [] synonym: "Trombiculidae infectious disease" EXACT [] xref: DOID:8399 {source="EFO:0007526", source="MONDO:equivalentTo"} xref: MESH:D014323 {source="EFO:0007526", source="MONDO:equivalentTo", source="DOID:8399"} xref: MeSH:D014323 xref: MONDO:0005998 xref: UMLS:C0041170 {source="MONDO:equivalentTo", source="DOID:8399"} is_a: MONDO:0004389 {source="DOID:8399", source="MESH:D014323"} ! mite infestation property_value: exactMatch DOID:8399 property_value: exactMatch http://identifiers.org/mesh/D014323 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041170 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007527 name: tropical spastic paraparesis def: "A viral infectious disease that results_in inflammation located_in spinal cord, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, and transmitted_by breast feeding. The infection has_symptom spastic weakness of both legs, has_symptom muscle stiffness, has_symptom sensory disturbance, and has_symptom spasms." [] def: "Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection." [Orphanet:289326] subset: ordo_disease {source="Orphanet:289326"} synonym: "familial spastic paraparesis, HTLV-1-associated" RELATED [OMIM:159580] synonym: "ham" RELATED [MONDO:Lexical, OMIM:159580] synonym: "ham/TSP" EXACT [Orphanet:289326] synonym: "HTLV-1 associated myelopathy/tropical spastic paraparesis" RELATED [GARD:0008208] synonym: "HTLV-1-associated myelopathy/tropical spastic paraparesis" EXACT [Orphanet:289326] synonym: "HTLV-associated myelopathy" EXACT [DOID:321] synonym: "Human T-cell leukaemia virus type 1 associated myelopathy/tropical spastic paraparesis" RELATED OMO:0003005 [] synonym: "Human T-cell leukemia virus type 1 associated myelopathy/tropical spastic paraparesis" RELATED [GARD:0008208] synonym: "Human T-lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis" EXACT [Orphanet:289326] synonym: "Human T-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis" EXACT [Orphanet:289326] synonym: "myelopathy, HTLV-1-associated" RELATED [MONDO:Lexical, OMIM:159580] synonym: "Paraparesis, Tropical Spastic" EXACT [] synonym: "Tropical spastic paralysis" EXACT [] synonym: "tropical spastic paralysis" EXACT [DOID:321] synonym: "tropical spastic paraparesis" EXACT [] {comment="preferred label from MONDO"} synonym: "tropical spastic paraparesis (formerly)" RELATED [GARD:0008208] synonym: "Tropical spastic paraplegia" EXACT [] synonym: "tropical spastic paraplegia" EXACT [DOID:321] synonym: "TSP" EXACT ABBREVIATION [Orphanet:289326] xref: DOID:321 {source="MONDO:equivalentTo", source="EFO:0007527"} xref: ICD9:323.01 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10044696 {source="Orphanet:289326", source="Orphanet:289326/e"} xref: MedDRA:10067606 xref: MESH:D015493 {source="MONDO:equivalentTo", source="EFO:0007527", source="DOID:321"} xref: MeSH:D015493 xref: MONDO:0008039 xref: OMIM:159580 {source="MONDO:equivalentTo", source="Orphanet:289326", source="DOID:321", source="Orphanet:289326/e"} xref: Orphanet:289326 {source="MONDO:equivalentTo", source="OMIM:159580"} xref: SCTID:714279000 {source="MONDO:equivalentTo", source="DOID:321"} xref: UMLS:C0030481 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:289326", source="DOID:321", source="Orphanet:289326/e", source="OMIM:159580"} is_a: EFO:0007316 ! Human T-lymphotropic virus 1 infectious disease is_a: EFO:0009488 ! spinal cord disease is_a: MONDO:0020010 {source="MONDO:Redundant", source="Orphanet:289326"} ! infectious disorder of the nervous system property_value: closeMatch http://identifiers.org/meddra/10044696 property_value: exactMatch DOID:321 property_value: exactMatch http://identifiers.org/mesh/D015493 property_value: exactMatch http://identifiers.org/snomedct/714279000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030481 property_value: exactMatch https://omim.org/entry/159580 property_value: exactMatch Orphanet:289326 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007528 name: tuberculous empyema def: "A pleural empyema which involves presence of pus in the pleural cavity and calcified visceral pleura. It results from a large number of mycobacteria spilling into the pleural space, usually from rupture of a cavity or an adjacent paranchymal focus via a bronchopleural fistula." [] def: "An empyema resulting from infection by Mycobacterium tuberculosis." [NCIT:P378] synonym: "Empyema, Tuberculous" EXACT [] synonym: "Tuberculous Empyema" EXACT [] synonym: "Tuberculous empyema" EXACT [] synonym: "tuberculous empyema" EXACT [] {comment="preferred label from MONDO"} synonym: "Tuberculous empyema (& pleural)" EXACT [] synonym: "tuberculous empyema (& pleural)" EXACT [DOID:14305] synonym: "Tuberculous empyema (disorder)" EXACT [] xref: DOID:14305 {source="EFO:0007528", source="MONDO:equivalentTo"} xref: MedDRA:10045056 xref: MESH:D004654 {source="DOID:14305", source="EFO:0007528", source="MONDO:equivalentTo"} xref: MeSH:D004654 xref: MONDO:0005999 xref: NCIT:C34575 {source="DOID:14305", source="MONDO:equivalentTo"} xref: SCTID:14527007 {source="DOID:14305", source="MONDO:equivalentTo"} xref: UMLS:C0014014 {source="DOID:14305", source="MONDO:equivalentTo", source="NCIT:C34575"} is_a: EFO:0003097 {source="EFO:0007528", source="MESH:D004654/inferred", source="MONDO:Redundant", source="NCIT:C34575"} ! empyema is_a: EFO:0007446 {source="MESH:D004654", source="MONDO:Redundant"} ! pleural tuberculosis is_a: EFO:0009680 {source="DOID:14305"} ! pleural empyema property_value: exactMatch DOID:14305 property_value: exactMatch http://identifiers.org/mesh/D004654 property_value: exactMatch http://identifiers.org/snomedct/14527007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014014 property_value: exactMatch NCIT:C34575 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007529 name: tuberculous peritonitis def: "A form of peritonitis seen in patients with tuberculosis, characterized by lesion either as a miliary form or as a pelvic mass on the peritoneal surfaces. Most patients have ascites, abdominal swelling, abdominal pain, and other systemic symptoms such as fever; weight loss; and anemia." [MESH:D014395] def: "A gastrointestinal tuberculosis that results_in inflammation located_in peritoneum, which results in formation of tubercles. The infection has_symptom abdominal discomfort, has_symptom pain, has_symptom distention from gas or fluid, has_symptom digestive disturbances and has_symptom emaciation." [] synonym: "Mycobacterium tuberculosis caused peritonitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Mycobacterium tuberculosis peritonitis" EXACT [] synonym: "Peritonitis, Tuberculous" EXACT [] synonym: "tuberculous peritonitis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:9801 {source="MONDO:equivalentTo", source="EFO:0007529"} xref: ICD10CM:A18.31 {source="DOID:9801", source="MONDO:equivalentTo"} xref: ICD9:014.0 {source="DOID:9801"} xref: ICD9:014.00 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:014.01 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10045096 xref: MedDRA:10045097 xref: MedDRA:10045098 xref: MedDRA:10045099 xref: MedDRA:10045101 xref: MedDRA:10045102 xref: MedDRA:10045103 xref: MedDRA:10045MedDRA\:100 xref: MESH:D014395 {source="DOID:9801", source="MONDO:equivalentTo", source="EFO:0007529"} xref: MeSH:D014395 xref: MONDO:0006000 xref: SCTID:44572005 {source="DOID:9801", source="MONDO:equivalentTo"} xref: UMLS:C0041325 {source="DOID:9801", source="MONDO:equivalentTo"} is_a: EFO:0007280 {source="DOID:9801", source="EFO:0007529"} ! gastrointestinal tuberculosis is_a: EFO:0008588 ! peritonitis is_a: MONDO:0000369 ! abdominal tuberculosis property_value: exactMatch DOID:9801 property_value: exactMatch http://identifiers.org/mesh/D014395 property_value: exactMatch http://identifiers.org/snomedct/44572005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041325 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A18.31 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007530 name: urinary schistosomiasis def: "A bladder infection that occurs as a manifetation of a systemic infection with one or more species of the parasitic worms of the Schistosoma type; this can progress to bladder cancer in time." [NCIT:P378] def: "A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer." [] synonym: "bladder Schistosomiasis" EXACT [] synonym: "bladder schistosomiasis" EXACT [DOID:1394, NCIT:C35362] synonym: "cystitis with bilharziasis" EXACT [DOID:1394] synonym: "cystitis with bilharziasis (disorder)" EXACT [] synonym: "Schistosoma haematobium" EXACT [DOID:1394] synonym: "Schistosoma haematobium (& vesical schistosomiasis)" EXACT [DOID:1394] synonym: "Schistosoma haematobium infection" RELATED [DOID:1394] synonym: "Schistosoma Hematobium Infection" EXACT [] synonym: "Schistosoma hematobium infection" EXACT [DOID:1394, NCIT:C39294] synonym: "Schistosoma hematobium infection (disorder)" EXACT [] synonym: "Schistosoma hematobium infectious disease" EXACT [DOID:1394] synonym: "Schistosomiasis due to schistosoma haematobium" EXACT [] synonym: "schistosomiasis due to Schistosoma haematobium" EXACT [DOID:1394, ICD9CM:120.0] synonym: "Schistosomiasis haematobia" EXACT [] synonym: "schistosomiasis of bladder" EXACT [DOID:1394] synonym: "Schistosomiasis of bladder [Ambiguous]" EXACT [] synonym: "urinary bladder schistosomiasis" EXACT [MONDO:patterns/location] synonym: "urinary schistosomiasis" EXACT [] {comment="preferred label from MONDO"} synonym: "urinary schistosomiasis (disorder)" EXACT [] synonym: "vesical schistosomiasis" EXACT [DOID:1394] synonym: "Vesical schistosomiasis NOS" EXACT [] xref: DOID:1394 {source="MONDO:equivalentTo", source="EFO:0007530"} xref: ICD9:120.0 {source="DOID:1394"} xref: MESH:D012553 {source="DOID:1394", source="MONDO:equivalentTo", source="EFO:0007530"} xref: MeSH:D012553 xref: MONDO:0006001 xref: NCIT:C39294 {source="DOID:1394", source="MONDO:equivalentTo"} xref: SCTID:236706006 {source="MONDO:equivalentTo"} xref: UMLS:C0276926 {source="DOID:1394", source="MONDO:equivalentTo"} xref: UMLS:C1704430 {source="MONDO:equivalentTo"} is_a: EFO:0003103 ! urinary tract infection is_a: EFO:1000018 {source="DOID:1394", source="MONDO:Entailed", source="MONDO:Redundant"} ! bladder disease is_a: EFO:1001475 {source="DOID:1394", source="MESH:D012553", source="MONDO:Redundant", source="NCIT:C39294"} ! schistosomiasis property_value: exactMatch DOID:1394 property_value: exactMatch http://identifiers.org/mesh/D012553 property_value: exactMatch http://identifiers.org/snomedct/236706006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0276926 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1704430 property_value: exactMatch NCIT:C39294 property_value: excluded_subClassOf MONDO:0005247 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007531 name: urogenital tuberculosis def: "A general term for mycobacterium infections of any part of the urogenital system in either the male or the female." [MESH:D014401] def: "An extrapulmonary tuberculosis that is located_in urogenital system." [] comment: Editor note: in ORDO this is classified 'rare disorder with obstructive azoospermia' but this is male specific, so we move to the male-specific subclass synonym: "genitourinary system tuberculosis" EXACT [MONDO:patterns/location] synonym: "genitourinary tuberculosis" RELATED [DOID:2149] synonym: "Tuberculosis, Urogenital" EXACT [] synonym: "urogenital tuberculosis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:2149 {source="MONDO:equivalentTo", source="EFO:0007531"} xref: ICD9:016 {source="DOID:2149"} xref: ICD9:016.9 {source="DOID:2149"} xref: ICD9:016.90 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:016.92 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D014401 {source="DOID:2149", source="MONDO:equivalentTo", source="EFO:0007531"} xref: MeSH:D014401 xref: MONDO:0006002 xref: SCTID:4445009 {source="DOID:2149", source="MONDO:equivalentTo"} xref: UMLS:C0041333 {source="DOID:2149", source="MONDO:equivalentTo"} is_a: EFO:0003863 ! urogenital neoplasm is_a: MONDO:0000368 {source="DOID:2149"} ! extrapulmonary tuberculosis relationship: EFO:0000784 UBERON:0004122 ! has_disease_location genitourinary system property_value: exactMatch DOID:2149 property_value: exactMatch http://identifiers.org/mesh/D014401 property_value: exactMatch http://identifiers.org/snomedct/4445009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041333 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007532 name: uterine corpus cancer def: "A malignant neoplasm involving the body of uterus." [MONDO:DesignPattern] def: "A malignant neoplasm involving the body of uterus." [https://orcid.org/0000-0002-6601-2165] comment: Editor note: NCIT has terms for both UC malignant neoplasm (NCIT:C3556) and cancer comment: Editor note: NCIT has terms for both UC malignant neoplasm (NCIT:C3556) and cancer. synonym: "body of uterus cancer" EXACT [MONDO:patterns/location] synonym: "cancer of body of uterus" EXACT [MONDO:patterns/cancer] synonym: "cancer of the corpus uteri" EXACT [NCIT:C61574] synonym: "corpus uteri cancer" EXACT [DOID:9460, NCIT:C61574] synonym: "endometrial cancer" EXACT [NCIT:C61574] synonym: "endometrial cancer" RELATED [NCIT:C61574] synonym: "malignant body of uterus neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of body of uterus" EXACT [MONDO:patterns/cancer] synonym: "uterine (including endometrial) cancer" EXACT [NCIT:C61574] synonym: "uterine corpus cancer" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "uterine corpus cancer" EXACT [] {comment="preferred label from MONDO"} synonym: "uterine corpus cancer" EXACT [NCIT:C61574] xref: COHD:4156113 {source="MONDO:equivalentTo"} xref: DOID:9460 {source="MONDO:equivalentTo"} xref: EFO:0007532 {source="MONDO:equivalentTo"} xref: ICD10:C54 {source="DOID:9460"} xref: ICD10:C54.9 {source="DOID:9460"} xref: ICD9:182 {source="DOID:9460"} xref: MONDO:0006003 xref: NCIT:C61574 {source="MONDO:equivalentTo"} xref: SCTID:371972005 {source="MONDO:equivalentTo", source="DOID:9460"} is_a: MONDO:0002715 {source="DOID:9460", source="MONDO:Redundant", source="NCIT:C61574/inferred"} ! uterine cancer is_a: MONDO:0021254 {source="MONDO:Redundant", source="NCIT:C61574/inferred"} ! corpus uteri neoplasm property_value: closeMatch http://identifiers.org/snomedct/154526001 property_value: closeMatch http://identifiers.org/snomedct/188194001 property_value: closeMatch http://identifiers.org/snomedct/188200009 property_value: closeMatch http://identifiers.org/snomedct/269600001 property_value: closeMatch http://identifiers.org/snomedct/363442002 property_value: closeMatch http://identifiers.org/snomedct/93718007 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153574 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1883486 property_value: closeMatch NCIT:C3556 property_value: exactMatch DOID:9460 property_value: exactMatch DOID:9460 property_value: exactMatch http://identifiers.org/snomedct/371972005 property_value: exactMatch http://identifiers.org/snomedct/371972005 property_value: exactMatch NCIT:C61574 property_value: exactMatch NCIT:C61574 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/cancer.yaml [Term] id: EFO:0007533 name: vasomotor rhinitis def: "A rhinitis which involves a hypersensitive reaction to various potentially irritating stimuli such as changes in weather, temperature, or barometric pressure, chemical irritants such as smoke, ozone, pollution, perfumes, and aerosol sprays, psychological stress and emotional shocks, medications, alcohol, and spicy food." [] def: "Inflammation in the nasal cavity mucosa that results from the abnormal regulation of the blood flow in the nose. It may be caused by temperature fluctuations, air pollution, strong odors, and tobacco smoke. It results in chronic nasal congestion, sneezing, and running nose." [NCIT:P378] synonym: "Rhinitis, Vasomotor" EXACT [] synonym: "Vasomotor Rhinitis" EXACT [] synonym: "Vasomotor rhinitis" EXACT [] synonym: "vasomotor rhinitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Vasomotor rhinitis (disorder)" EXACT [] xref: DOID:4730 {source="EFO:0007533", source="MONDO:equivalentTo"} xref: ICD10CM:J30.0 {source="DOID:4730", source="MONDO:equivalentTo"} xref: MedDRA:10047145 xref: MESH:D012223 {source="EFO:0007533", source="DOID:4730", source="MONDO:equivalentTo"} xref: MeSH:D012223 xref: MONDO:0006004 xref: NCIT:C34988 {source="DOID:4730", source="MONDO:equivalentTo"} xref: SCTID:8229003 {source="DOID:4730", source="MONDO:equivalentTo"} xref: UMLS:C0035460 {source="DOID:4730", source="MONDO:equivalentTo", source="NCIT:C34988"} is_a: EFO:0005854 {source="EFO:0007533"} ! allergic rhinitis property_value: exactMatch DOID:4730 property_value: exactMatch http://identifiers.org/mesh/D012223 property_value: exactMatch http://identifiers.org/snomedct/8229003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035460 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/J30.0 property_value: exactMatch NCIT:C34988 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007534 name: Venezuelan equine encephalitis def: "A condition caused by infection by the Venezuelan equine encephalitis virus, which is characterized by headache, fever, myalgia, nausea, and vomiting." [NCIT:P378] def: "A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Venezuelan equine encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom severe headache, has_symptom photophobia, and has_symptom myalgia in the legs and lumbosacral region." [] subset: gard_rare {source="GARD:0006355"} synonym: "Encephalomyelitis, Venezuelan Equine" EXACT [] synonym: "Venezuelan equine encephalitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Venezuelan equine encephalitis virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Venezuelan equine encephalitis virus disease or disorder" EXACT [] synonym: "Venezuelan equine encephalitis virus infectious disease" EXACT [] synonym: "Venezuelan equine fever" RELATED [DOID:9584, ICD9CM:066.2] xref: DOID:9584 {source="EFO:0007534", source="MONDO:equivalentTo"} xref: ICD10CM:A92.2 {source="MONDO:equivalentTo", source="DOID:9584"} xref: ICD9:066.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9584"} xref: MedDRA:10047204 xref: MESH:D004685 {source="EFO:0007534", source="MONDO:equivalentTo", source="DOID:9584"} xref: MeSH:D004685 xref: MONDO:0006005 xref: NCIT:C35121 {source="MONDO:equivalentTo", source="DOID:9584"} xref: SCTID:417067005 {source="MONDO:equivalentTo", source="DOID:9584"} xref: UMLS:C0014078 {source="NCIT:C35121", source="MONDO:equivalentTo", source="DOID:9584"} is_a: EFO:0001423 {source="EFO:0007534", source="MESH:D004685/inferred"} ! encephalomyelitis is_a: EFO:0007142 ! Alphavirus infectious disease is_a: MONDO:0018087 {source="NCIT:C35121"} ! viral hemorrhagic fever is_a: MONDO:0024318 ! viral infection of central nervous system is_a: MONDO:0100120 ! vector-borne disease property_value: exactMatch DOID:9584 property_value: exactMatch http://identifiers.org/mesh/D004685 property_value: exactMatch http://identifiers.org/snomedct/417067005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014078 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A92.2 property_value: exactMatch NCIT:C35121 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6355/venezuelan-equine-encephalitis xsd:anyURI {source="GARD:0006355"} [Term] id: EFO:0007535 name: verrucous carcinoma def: "A well differentiated squamous cell carcinoma characterized by a papillary growth pattern, acanthosis, mild cytologic atypia, and pushing tumor margins. The most commonly affected anatomic sites are the oral cavity, nasal cavity, larynx, esophagus, anus, vagina, vulva, and the plantar region of the foot." [NCIT:C3781] synonym: "verrucous carcinoma" EXACT [NCIT:C3781] synonym: "verrucous carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "verrucous carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "verrucous carcinoma NOS (morphologic abnormality)" EXACT [DOID:3737] synonym: "verrucous epidermoid carcinoma" EXACT [NCIT:C3781] synonym: "verrucous epidermoid cell carcinoma" EXACT [NCIT:C3781] synonym: "verrucous squamous carcinoma" EXACT [DOID:3737, NCIT:C3781] synonym: "verrucous squamous cell carcinoma" EXACT [NCIT:C3781] synonym: "warty carcinoma" EXACT [DOID:3737] synonym: "warty carcinoma" RELATED [DOID:3737] xref: DOID:3737 {source="EFO:0007535", source="MONDO:equivalentTo"} xref: EFO:0007535 {source="MONDO:equivalentTo"} xref: ICD9:199.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:199.1 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:8051/3 {source="NCIT:C3781"} xref: MESH:D018289 {source="EFO:0007535", source="MONDO:equivalentTo", source="DOID:3737"} xref: MONDO:0006006 xref: NCIT:C3781 {source="MONDO:equivalentTo", source="DOID:3737", source="MONDO:exact-label-match"} xref: NCIT:C3781 {source="MONDO:equivalentTo", source="DOID:3737", source="exact-label-match"} xref: SCTID:403904009 {source="MONDO:equivalentTo", source="DOID:3737"} xref: UMLS:C0206706 {source="NCIT:C3781", source="MONDO:equivalentTo", source="DOID:3737"} is_a: MONDO:0002979 {source="NCIT:C3781"} ! papillary squamous carcinoma property_value: closeMatch http://identifiers.org/snomedct/189563000 property_value: closeMatch http://identifiers.org/snomedct/89906000 property_value: exactMatch DOID:3737 property_value: exactMatch DOID:3737 property_value: exactMatch http://identifiers.org/mesh/D018289 property_value: exactMatch http://identifiers.org/mesh/D018289 property_value: exactMatch http://identifiers.org/snomedct/403904009 property_value: exactMatch http://identifiers.org/snomedct/403904009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206706 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206706 property_value: exactMatch NCIT:C3781 property_value: exactMatch NCIT:C3781 [Term] id: EFO:0007536 name: vesicoureteral reflux def: "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." [] def: "Abnormal flow of urine from the urinary bladder back into the ureters." [NCIT:P378] synonym: "Vesico-Ureteral Reflux" EXACT [] synonym: "vesico-ureteral reflux" EXACT [DOID:9620] synonym: "vesicoureteral reflux" EXACT [] {comment="preferred label from MONDO"} synonym: "vesicoureteral reflux" EXACT [MONDO:ambiguous] synonym: "vesicoureteral reflux (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "vesicoureteric reflux" EXACT [] xref: DOID:9620 {source="EFO:0007536", source="MONDO:equivalentTo"} xref: HP:0000076 {source="MONDO:otherHierarchy"} xref: ICD9:593.7 {source="DOID:9620"} xref: MedDRA:10047371 xref: MESH:D014718 {source="EFO:0007536", source="MONDO:equivalentTo", source="DOID:9620"} xref: MeSH:D014718 xref: MONDO:0006007 xref: Orphanet:289365 {source="MONDO:relatedTo", source="DOID:9620"} xref: SCTID:197811007 {source="MONDO:equivalentTo", source="DOID:9620"} xref: UMLS:C0042580 {source="MONDO:equivalentTo", source="DOID:9620"} is_a: EFO:0003086 ! kidney disease is_a: EFO:1000018 {source="EFO:0007536", source="MESH:D014718"} ! bladder disease is_a: MONDO:0001926 {source="DOID:9620"} ! ureteral disorder property_value: exactMatch DOID:9620 property_value: exactMatch http://identifiers.org/mesh/D014718 property_value: exactMatch http://identifiers.org/snomedct/197811007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042580 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000589 "vesicoureteral reflux (disease)" xsd:string [Term] id: EFO:0007537 name: vestibular neuronitis def: "A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent." [] def: "Idiopathic inflammation of the vestibular nerve, characterized clinically by the acute or subacute onset of vertigo; nausea; and imbalance. The cochlear nerve is typically spared and hearing loss and tinnitus do not usually occur. Symptoms usually resolve over a period of days to weeks. (Adams et al., Principles of Neurology, 6th ed, p304)" [MESH:D020338] synonym: "Epidemic neurolabyrinthitis" EXACT [] synonym: "epidemic neurolabyrinthitis" EXACT [DOID:12683] synonym: "Vestibular neuritis" EXACT [] synonym: "vestibular neuritis" EXACT [DOID:12683] synonym: "Vestibular Neuronitis" EXACT [] synonym: "vestibular neuronitis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:12683 {source="EFO:0007537", source="MONDO:equivalentTo"} xref: ICD10CM:H81.2 {source="MONDO:equivalentTo", source="DOID:12683"} xref: ICD9:078.81 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12683"} xref: ICD9:386.12 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12683"} xref: MedDRA:10047393 xref: MESH:D020338 {source="EFO:0007537", source="MONDO:equivalentTo", source="DOID:12683"} xref: MeSH:D020338 xref: MONDO:0006008 xref: SCTID:186738001 {source="MONDO:equivalentTo", source="DOID:12683"} xref: UMLS:C0751908 {source="MONDO:equivalentTo", source="DOID:12683"} is_a: EFO:0000524 ! head and neck disorder is_a: MONDO:0001563 {source="DOID:12683", source="MESH:D020338", source="MONDO:Redundant"} ! vestibulocochlear nerve disorder is_a: MONDO:0002122 ! neuritis property_value: exactMatch DOID:12683 property_value: exactMatch http://identifiers.org/mesh/D020338 property_value: exactMatch http://identifiers.org/snomedct/186738001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751908 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H81.2 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007538 name: viral encephalitis def: "An encephalitis that involves inflammation of the brain caused by viral infection." [] def: "Encephalitis resulting from viral infection." [NCIT:C35302] comment: Editor note: we place the Orphanet class here as it is implicitly viral synonym: "Arbovirus encephalitis" EXACT [] synonym: "arbovirus encephalitis" EXACT [] synonym: "Arbovirus encephalitis (disorder)" EXACT [] synonym: "Arbovirus encephalitis (disorder) [Ambiguous]" EXACT [] synonym: "Arthropod-borne viral encephalitis, vector unknown" EXACT [] synonym: "Arthropod-borne viral encephalitis, vector unknown (disorder)" EXACT [] synonym: "Encephalitis - viral" EXACT [] synonym: "Encephalitis in viral disease NOS (disorder)" EXACT [] synonym: "Encephalitis, Arbovirus" EXACT [] synonym: "Epidemic Encephalitis" EXACT [] synonym: "Epidemic encephalitis" EXACT [] synonym: "epidemic encephalitis" EXACT [] synonym: "Epidemic encephalitis (disorder)" EXACT [] synonym: "mosquito-borne viral encephalitis" EXACT [] synonym: "tick-borne viral encephalitis" EXACT [] synonym: "Unspecified viral encephalitis (disorder)" EXACT [] synonym: "Viral Encephalitis" EXACT [] synonym: "viral encephalitis" EXACT [] {comment="preferred label from MONDO"} synonym: "viral encephalitis" EXACT [NCIT:C35302] synonym: "Viral encephalitis (disorder)" EXACT [] synonym: "Viral encephalitis NOS" EXACT [] synonym: "Viruses caused encephalitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Viruses encephalitis" EXACT [] xref: DOID:646 {source="MONDO:equivalentTo", source="EFO:0007538"} xref: ICD10:A83 xref: ICD10:A84 xref: MedDRA:10047439 xref: MedDRA:10058805 {source="Orphanet:98252/e", source="Orphanet:98252"} xref: MeSH:D004671 xref: MONDO:0006009 xref: NCIT:C35302 {source="MONDO:equivalentTo"} xref: Orphanet:98252 {source="MONDO:equivalentTo"} xref: SCTID:34476008 {source="MONDO:equivalentTo"} xref: UMLS:C0243010 {source="MONDO:equivalentTo", source="NCIT:C35302"} is_a: MONDO:0020067 {source="MONDO:Redundant", source="NCIT:C35302"} ! infectious encephalitis is_a: MONDO:0024318 ! viral infection of central nervous system is_a: MONDO:0100329 ! primary viral infectious disease property_value: closeMatch http://identifiers.org/meddra/10058805 property_value: exactMatch DOID:646 property_value: exactMatch http://identifiers.org/snomedct/34476008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0243010 property_value: exactMatch NCIT:C35302 property_value: exactMatch Orphanet:98252 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007539 name: viral hemorrhagic septicemia def: "A systemic infection of various salmonid and a few nonsalmonid fishes caused by Viral hemorrhagic septicemia virus (see novirhabdovirus)," [MESH:D031941] def: "A viral infectious disease that results_in infection in fish, has_material_basis_in Viral hemorrhagic septicemia virus, which is transmitted_by contact with the contaminated water, or transmitted_by direct contact. The infection has_symptom hemorrhages in the internal organs, skin, and muscle, has_symptom bulging eyes, and has_symptom bloated abdomens." [] synonym: "Egtved Disease" EXACT [] synonym: "Hemorrhagic Septicemia, Viral" EXACT [] synonym: "salmonid viral hemorrhagic septicemia" EXACT [] {comment="preferred label from MONDO"} xref: DOID:3568 xref: MESH:D031941 {source="EFO:0007539", source="MONDO:equivalentTo"} xref: MeSH:D031941 xref: MONDO:0006010 xref: UMLS:C1135869 {source="MONDO:equivalentTo"} is_a: MONDO:0024934 {source="MESH:D031941"} ! fish disease is_a: MONDO:0700072 {source="MESH:D031941"} ! Rhabdoviridae infectious disease, non-human animal property_value: exactMatch http://identifiers.org/mesh/D031941 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1135869 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: RO:0002175 NCBITaxon:32443 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} [Term] id: EFO:0007540 name: animal viral hepatitis def: "A hepatitis that involves viral infection of an animal causing inflammation of the liver." [] synonym: "Hepatitis, Viral, Animal" EXACT [] synonym: "Unspecified viral hepatitis with hepatic coma" EXACT [] synonym: "viral hepatitis" EXACT [] synonym: "viral hepatitis with hepatic coma" EXACT [] synonym: "Viral hepatitis with hepatic coma (disorder)" EXACT [] xref: DOID:1884 xref: ICD10:B18 xref: MeSH:D006524 is_a: EFO:0000763 ! viral disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007541 name: viral pneumonia def: "A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus." [] def: "Inflammation of the lung parenchyma that is caused by a viral infection." [MESH:D011024] synonym: "Pneumonia, Viral" EXACT [] synonym: "viral pneumonia" EXACT [] {comment="preferred label from MONDO"} synonym: "Viruses caused pneumonia" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Viruses pneumonia" EXACT [] xref: DOID:10533 {source="MONDO:equivalentTo", source="EFO:0007541"} xref: ICD9:480 {source="DOID:10533"} xref: ICD9:480.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:480.9 {source="DOID:10533", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10047474 xref: MedDRA:10047475 xref: MESH:D011024 {source="DOID:10533", source="MONDO:equivalentTo", source="EFO:0007541"} xref: MeSH:D011024 xref: MONDO:0006012 xref: SCTID:75570004 {source="DOID:10533", source="MONDO:equivalentTo"} xref: UMLS:C0032310 {source="DOID:10533", source="MONDO:equivalentTo"} is_a: EFO:0003106 {source="DOID:10533", source="EFO:0007541", source="MESH:D011024", source="MONDO:Redundant"} ! pneumonia is_a: MONDO:0024352 ! viral respiratory tract infection is_a: MONDO:0100329 ! primary viral infectious disease property_value: exactMatch DOID:10533 property_value: exactMatch http://identifiers.org/mesh/D011024 property_value: exactMatch http://identifiers.org/snomedct/75570004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032310 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007542 name: visna def: "A viral infectious disease that results_in infection located_in brain in sheep and goats, has_material_basis_in Visna/Maedi virus , which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated water, milk or colostrum. The infection has_symptom hindlimb weakness, has_symptom head tilt, has_symptom ataxia, has_symptom incoordination, has_symptom muscle tremors, has_symptom paresis, and has_symptom paraplegia." [] synonym: "Ovine encephalomyelitis" EXACT [] synonym: "Visna" EXACT [] xref: DOID:4318 xref: MeSH:D016182 is_a: EFO:0005932 ! animal disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007543 name: vulvovaginal candidiasis def: "A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge." [] def: "Infection of the vulva and vagina with a fungus of the genus CANDIDA. It is a disease associated with HIV infection." [NCIT:P378] synonym: "Candidal vulvovaginitis" EXACT [] synonym: "candidal vulvovaginitis" EXACT [DOID:2272] synonym: "Candidal vulvovaginitis (disorder)" EXACT [] synonym: "Candidal vulvovaginitis NOS (disorder)" EXACT [] synonym: "Candidal: [vulvovaginitis NOS] or [cervix]" EXACT [] synonym: "candidal: [vulvovaginitis NOS] or [cervix]" EXACT [DOID:2272] synonym: "candidal: cervix" EXACT [DOID:2272] synonym: "Candidiasis of vulva and vagina" EXACT [] synonym: "candidiasis of vulva and vagina" EXACT [DOID:2272, ICD9CM:112.1] synonym: "Candidiasis, Vulvovaginal" EXACT [] synonym: "Monilial vulvovaginitis" EXACT [] synonym: "monilial vulvovaginitis" EXACT [DOID:2272] synonym: "vaginal candidiasis" EXACT [NCIT:C2914] synonym: "Vulvovaginal Candidiasis" EXACT [] synonym: "vulvovaginal candidiasis" EXACT [DOID:2272, NCIT:C2914] synonym: "vulvovaginal candidiasis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:2272 {source="EFO:0007543", source="MONDO:equivalentTo"} xref: ICD10CM:B37.3 {source="MONDO:equivalentTo", source="DOID:2272"} xref: ICD9:112.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2272"} xref: MedDRA:10047784 xref: MESH:D002181 {source="EFO:0007543", source="MONDO:equivalentTo", source="DOID:2272"} xref: MeSH:D002181 xref: MONDO:0006014 xref: NCIT:C2914 {source="MONDO:equivalentTo", source="DOID:2272"} xref: SCTID:72605008 {source="MONDO:equivalentTo", source="DOID:2272"} xref: UMLS:C0700345 {source="MONDO:equivalentTo", source="DOID:2272"} is_a: EFO:1001240 ! vulvovaginitis is_a: MONDO:0000879 ! cutaneous candidiasis is_a: MONDO:0023557 ! infective vaginitis property_value: exactMatch DOID:2272 property_value: exactMatch http://identifiers.org/mesh/D002181 property_value: exactMatch http://identifiers.org/snomedct/72605008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0700345 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B37.3 property_value: exactMatch NCIT:C2914 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007544 name: Waterhouse-Friderichsen syndrome def: "A serious disorder characterized by massive adrenal gland hemorrhage secondary to a bacterial infection, most often Neisseria meningitidis infection. It is manifested with decreased blood pressure, shock, disseminated intravascular coagulation, and adrenocortical insufficiency." [NCIT:P378] def: "An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland." [] subset: ordo_clinical_subtype {source="Orphanet:100067"} synonym: "fatal pneumococcal Waterhouse-Friderichsen syndrome" RELATED [GARD:0009449] synonym: "Meningococcal hemorrhagic adrenalitis" EXACT [] synonym: "meningococcal hemorrhagic adrenalitis" EXACT [DOID:9931] synonym: "Waterhouse-Friderichsen Syndrome" EXACT [] synonym: "Waterhouse-Friderichsen syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Waterhouse–Friderichsen syndrome" RELATED [GARD:0009449] synonym: "WFS" EXACT ABBREVIATION [DOID:9931] xref: DOID:9931 {source="EFO:0007544", source="MONDO:equivalentTo"} xref: ICD10CM:A39.1 {source="MONDO:equivalentTo"} xref: ICD10EXP:A39.1+ {source="Orphanet:100067", source="Orphanet:100067/e"} xref: ICD10EXP:E35.1* {source="Orphanet:100067", source="Orphanet:100067/e"} xref: ICD9:036.3 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10047846 xref: MedDRA:10047847 {source="Orphanet:100067", source="Orphanet:100067/e"} xref: MESH:D014884 {source="DOID:9931", source="EFO:0007544", source="Orphanet:100067", source="MONDO:equivalentTo", source="Orphanet:100067/e"} xref: MeSH:D014884 xref: MONDO:0006015 xref: NCIT:C85225 {source="DOID:9931", source="MONDO:equivalentTo"} xref: Orphanet:100067 {source="MONDO:equivalentTo"} xref: SCTID:36102002 {source="MONDO:equivalentTo"} xref: UMLS:C0043068 {source="DOID:9931", source="Orphanet:100067", source="MONDO:equivalentTo", source="Orphanet:100067/e", source="NCIT:C85225"} is_a: MONDO:0002254 {source="NCIT:C85225"} ! syndromic disease is_a: MONDO:0019801 {source="Orphanet:100067"} ! acute adrenal insufficiency property_value: closeMatch http://identifiers.org/meddra/10047847 property_value: exactMatch DOID:9931 property_value: exactMatch http://identifiers.org/mesh/D014884 property_value: exactMatch http://identifiers.org/snomedct/36102002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043068 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A39.1 property_value: exactMatch NCIT:C85225 property_value: exactMatch Orphanet:100067 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007545 name: West Nile encephalitis def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in West Nile virus, which is transmitted_by Culex, transmitted_by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom high fever, has_symptom headache, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, has_symptom muscle weakness, has_symptom vision loss, has_symptom numbness, and has_symptom paralysis." [] def: "An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, that is asymptomatic in the majority of cases but that can present in rare occasions with mild flulike symptoms such as low-grade fever, arthralgia, myalgia, and/or rash, or with neurologic manifestations including meningitis, encephalitis with mental confusion or disorientation, tremors and acute flaccid paralysis/poliomyelitis." [Orphanet:83476] subset: ordo_disease {source="Orphanet:83476"} synonym: "West Nile encephalitis" EXACT [MONDO:0006016] synonym: "West Nile Fever" EXACT [] synonym: "West Nile fever encephalitis" EXACT [DOID:2365] synonym: "West Nile Fever with encephalitis" EXACT [] synonym: "West Nile fever with encephalitis" EXACT [DOID:2365, ICD9CM:066.41] synonym: "West Nile virus caused infectious encephalitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "West Nile virus infectious encephalitis" EXACT [] synonym: "West-Nile encephalitis" EXACT [] {comment="preferred label from MONDO"} synonym: "West-Nile fever" EXACT [Orphanet:83476] xref: DOID:2365 {source="EFO:0007545", source="MONDO:equivalentTo"} xref: ICD9:066.41 {source="DOID:2365", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D014901 {source="DOID:2365", source="EFO:0007545", source="MONDO:directSiblingOf"} xref: MeSH:D014901 xref: MONDO:0019376 xref: Orphanet:83476 {source="MONDO:equivalentTo"} xref: SCTID:392662004 {source="DOID:2365", source="MONDO:equivalentTo"} is_a: MONDO:0002282 ! West Nile fever is_a: MONDO:0020601 ! mosquito-borne viral encephalitis relationship: RO:0000057 NCBITaxon:11082 ! has_participant West Nile virus property_value: exactMatch DOID:2365 property_value: exactMatch http://identifiers.org/snomedct/392662004 property_value: exactMatch Orphanet:83476 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007546 name: Western equine encephalitis def: "A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus, which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness." [] def: "An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flulike symptoms (fever, chills, headache, nausea, vomiting, and anorexia) but that can progress to weakness, altered mental status, photophobia, mental confusion, seizures, somnolence, coma and/or even death. The disease can leave neurological sequelae, mainly in infants and children, such as seizures, spasticity or behavioral disorders." [Orphanet:83593] subset: gard_rare {source="GARD:0007888"} subset: ordo_disease {source="Orphanet:83593"} synonym: "Encephalomyelitis, Western Equine" EXACT [] synonym: "WEE" RELATED ABBREVIATION [DOID:10843] synonym: "western equine encephalitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Western equine encephalitis virus caused infectious encephalitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Western equine encephalitis virus infectious encephalitis" EXACT [] synonym: "Western equine encephalomyelitis" EXACT [Orphanet:83593] xref: DOID:10843 {source="EFO:0007546", source="MONDO:equivalentTo"} xref: ICD10CM:A83.1 {source="Orphanet:83593", source="DOID:10843", source="Orphanet:83593/ntbt", source="MONDO:equivalentTo"} xref: ICD9:062.1 {source="DOID:10843", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10014614 {source="Orphanet:83593", source="Orphanet:83593/e"} xref: MedDRA:10047915 xref: MESH:D020241 {source="DOID:10843", source="EFO:0007546", source="MONDO:equivalentTo"} xref: MeSH:D020241 xref: MONDO:0019380 xref: NCIT:C85227 {source="DOID:10843", source="MONDO:equivalentTo"} xref: Orphanet:83593 {source="MONDO:equivalentTo"} xref: SCTID:47523006 {source="DOID:10843", source="MONDO:equivalentTo"} xref: UMLS:C0153064 {source="NCIT:C85227", source="Orphanet:83593", source="DOID:10843", source="MONDO:equivalentTo"} is_a: EFO:0007142 ! Alphavirus infectious disease is_a: MONDO:0020601 ! mosquito-borne viral encephalitis property_value: closeMatch http://identifiers.org/meddra/10014614 property_value: exactMatch DOID:10843 property_value: exactMatch http://identifiers.org/mesh/D020241 property_value: exactMatch http://identifiers.org/snomedct/47523006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153064 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A83.1 property_value: exactMatch NCIT:C85227 property_value: exactMatch Orphanet:83593 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7888/western-equine-encephalitis xsd:anyURI {source="GARD:0007888"} [Term] id: EFO:0007547 name: Wissler's syndrome def: "A rheumatic syndrome of possibly allergic origin, usually affecting children and adolescents, and characterized by high fever, exanthema, arthralgia, leukocytosis, and increased sedimentation rate." [MESH:D014924] def: "A syndrome that is characterized by four typical symptoms: polymorphous exanthemas, recurrent high fever, leucocytosis and arthralgia." [] synonym: "Wissler syndrome" EXACT [DOID:3047] synonym: "Wissler syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Wissler's subsepsis allergica" EXACT [DOID:3047] synonym: "Wissler's Syndrome" EXACT [] synonym: "Wissler's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] synonym: "Wissler-Fanconi syndrome (finding)" EXACT [DOID:3047] xref: DOID:3047 {source="EFO:0007547", source="MONDO:equivalentTo"} xref: MESH:D014924 {source="DOID:3047", source="EFO:0007547", source="MONDO:equivalentTo"} xref: MeSH:D014924 xref: MONDO:0006018 xref: SCTID:68190001 {source="DOID:3047", source="MONDO:relatedTo"} xref: UMLS:C0043195 {source="DOID:3047", source="MONDO:equivalentTo"} is_a: EFO:0005755 {source="PMID:27843372"} ! rheumatic disease is_a: MONDO:0002254 {source="DOID:3047"} ! syndromic disease property_value: exactMatch DOID:3047 property_value: exactMatch http://identifiers.org/mesh/D014924 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043195 property_value: excluded_subClassOf MONDO:0017767 {source="MESH:D014924"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007548 name: yaws def: "A primary bacterial infectious disease that results_in infection located_in skin, located_in joint or located_in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted_by direct skin contact with an infected person. The infection has_symptom skin lesions." [] def: "An endemic, infectious, nonvenereal disease in humans that presents mainly in children younger than 15 years. The disease occurs primarily in warm, humid, tropical areas of Africa, Asia, South America, and Oceania, among poor rural populations where conditions of overcrowding and poor sanitation prevail. Infection with Treponema pertenue, a subspecies of Treponema pallidum, causes the disease." [NCIT:P378] subset: gard_rare {source="GARD:0007913"} synonym: "Bouba" EXACT [DOID:10371] synonym: "endemic treponematoses" RELATED [GARD:0007913] synonym: "frambesia" EXACT [DOID:10371] synonym: "frambesia tropica" EXACT [DOID:10371] synonym: "frambosie" EXACT [DOID:10371] synonym: "polypapilloma tropicum" EXACT [DOID:10371] synonym: "thymosis" EXACT [DOID:10371] synonym: "Treponema pallidum subsp. pertenue caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Treponema pallidum subsp. pertenue disease or disorder" EXACT [] synonym: "Treponema pallidum subsp. pertenue infectious disease" EXACT [] synonym: "Treponema pertenue infection" RELATED [GARD:0007913] synonym: "Yaws" EXACT [] synonym: "yaws" EXACT [] {comment="preferred label from MONDO"} xref: DOID:10371 {source="EFO:0007548", source="MONDO:equivalentTo"} xref: ICD10:A66 xref: ICD10CM:A66 {source="MONDO:equivalentTo", source="DOID:10371"} xref: ICD9:102 {source="DOID:10371"} xref: ICD9:102.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:102.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10371"} xref: MedDRA:10048234 xref: MedDRA:10048237 xref: MESH:D015001 {source="EFO:0007548", source="MONDO:equivalentTo", source="DOID:10371"} xref: MeSH:D015001 xref: MONDO:0006019 xref: NCIT:C41353 {source="MONDO:equivalentTo", source="DOID:10371"} xref: SCTID:70647001 {source="MONDO:equivalentTo", source="DOID:10371"} xref: UMLS:C0043388 {source="MONDO:equivalentTo", source="DOID:10371", source="NCIT:C41353"} is_a: EFO:0007504 ! syphilis property_value: exactMatch DOID:10371 property_value: exactMatch http://identifiers.org/mesh/D015001 property_value: exactMatch http://identifiers.org/snomedct/70647001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043388 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A66 property_value: exactMatch NCIT:C41353 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7913/yaws xsd:anyURI {source="GARD:0007913"} [Term] id: EFO:0007549 name: Zollinger-Ellison Syndrome def: "Zollinger-Ellison syndrome (ZES) is characterized by severe peptic disease (ulcers/esophageal disease) caused by hypergastrinemia secondary to a gastrinoma resulting in increased gastric acid secretion." [Orphanet:913] subset: ordo_disease {source="Orphanet:913"} synonym: "gastrinoma" RELATED [Orphanet:913] synonym: "pancreatic ulcerogenic tumor syndrome" RELATED [GARD:0007918] synonym: "pancreatic ulcerogenic tumour syndrome" RELATED OMO:0003005 [] synonym: "Z E syndrome" RELATED [GARD:0007918] synonym: "Z-E syndrome" RELATED [] synonym: "ZES" RELATED ABBREVIATION [GARD:0007918] synonym: "Zollinger Ellison syndrome" EXACT [NCIT:C3453] synonym: "Zollinger-Ellison syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Zollinger-Ellison syndrome" EXACT [MONDO:ambiguous, NCIT:C3453] synonym: "Zollinger-Ellison syndrome" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "Zollinger-Ellison syndrome (disease)" EXACT [MONDO:0006020] xref: DOID:0050782 {source="MONDO:equivalentTo", source="EFO:0007549"} xref: EFO:0007549 {source="MONDO:equivalentTo"} xref: GARD:0007918 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0002044 {source="MONDO:otherHierarchy"} xref: ICD10:C25.4 {source="MONDO:relatedTo", source="ORDO:913/ntbt", source="Orphanet:913"} xref: ICD10:D37.7 {source="ORDO:913/ntbt", source="Orphanet:913"} xref: ICD10:E16.4 {source="DOID:0050782", source="ORDO:913/ntbt", source="Orphanet:913"} xref: ICD10CM:C25.4 {source="MONDO:relatedTo", source="Orphanet:913", source="Orphanet:913/ntbt"} xref: MedDRA:10017852 {source="Orphanet:913", source="Orphanet:913/e"} xref: MedDRA:10017852 {source="ORDO:913/e", source="Orphanet:913"} xref: MESH:D015043 {source="DOID:0050782", source="MONDO:equivalentTo", source="Orphanet:913", source="EFO:0007549", source="Orphanet:913/e"} xref: MESH:D015043 {source="DOID:0050782", source="ORDO:913/e", source="MONDO:equivalentTo", source="Orphanet:913", source="EFO:0007549"} xref: MESH:D015408 {source="Orphanet:913", source="Orphanet:913/e", source="MONDO:directSiblingOf"} xref: MONDO:0019610 xref: NCIT:C3453 {source="DOID:0050782", source="MONDO:equivalentTo"} xref: Orphanet:913 {source="MONDO:equivalentTo"} xref: SCTID:302824004 {source="MONDO:relatedTo"} xref: SCTID:53132006 {source="DOID:0050782", source="MONDO:equivalentTo"} xref: UMLS:C0043515 {source="DOID:0050782", source="MONDO:equivalentTo", source="NCIT:C3453", source="Orphanet:913", source="Orphanet:913/e"} xref: UMLS:C0043515 {source="DOID:0050782", source="ORDO:913/e", source="MONDO:equivalentTo", source="NCIT:C3453", source="Orphanet:913"} is_a: MONDO:0001770 ! gastrin secretion abnormality is_a: MONDO:0021058 {source="NCIT:C3453"} ! neoplastic syndrome relationship: disease_has_feature EFO:0009454 ! gastric ulcer relationship: disease_has_feature EFO:1000045 {source="Orphanet:913", source="Orphanet:913/inferred"} ! pancreatic neuroendocrine tumor relationship: disease_has_feature MONDO:0015063 {source="Orphanet:913"} ! duodenal neuroendocrine tumor, well differentiated, low or intermediate grade property_value: closeMatch http://identifiers.org/meddra/10017852 property_value: closeMatch http://identifiers.org/snomedct/154694003 property_value: closeMatch http://identifiers.org/snomedct/190443003 property_value: closeMatch http://identifiers.org/snomedct/267477002 property_value: closeMatch http://identifiers.org/snomedct/302824004 property_value: exactMatch DOID:0050782 property_value: exactMatch DOID:0050782 property_value: exactMatch http://identifiers.org/meddra/10017852 property_value: exactMatch http://identifiers.org/mesh/D015043 property_value: exactMatch http://identifiers.org/mesh/D015043 property_value: exactMatch http://identifiers.org/snomedct/53132006 property_value: exactMatch http://identifiers.org/snomedct/53132006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017150 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043515 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043515 property_value: exactMatch NCIT:C3453 property_value: exactMatch NCIT:C3453 property_value: exactMatch Orphanet:913 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: excluded_subClassOf MONDO:0005070 {source="EFO:0007549", source="MESH:D015043/inferred"} property_value: relatedMatch http://identifiers.org/snomedct/302824004 [Term] id: EFO:0007550 name: high content screen def: "An image analysis technique combining automated fluorescence microscopy with multi-parameter quantitative image analysis for the large scale study of cells (cellomics)." [] synonym: "HCS" EXACT [] synonym: "high content screening" EXACT [] xref: ERO:0001655 xref: Wikipedia:High-content_screening is_a: EFO:0005397 ! high content analysis of cells property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007551 name: high content screen of cells treated with library of siRNAs def: "High throughput sample analysis of RNAi molecules for potential application in gene knockdown or gene silencing of target genes." [] synonym: "RNAi screen" EXACT [] synonym: "RNAi screening" EXACT [] xref: ERO:0001688 is_a: EFO:0007550 ! high content screen property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007552 name: high content screen of cells in a gene deletion library synonym: "gene deletion screen" EXACT [] synonym: "gene deletion screening" EXACT [] is_a: EFO:0007550 ! high content screen property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007553 name: high content screen of cells in treated with a compound library def: "High throughput sample analysis of collections of compounds that provide a variety of chemically diverse structures that can be used to identify structure types that have affinity with pharmacological targets. " [] synonym: "compound library screen" EXACT [] synonym: "compound library screening" EXACT [] synonym: "compound screen" EXACT [] xref: ERO:0001686 is_a: EFO:0007550 ! high content screen property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007554 name: experimental stage def: "An experimental stage is spatiotemporal region encompassing some part of a scientic experimental process; e.g. primary, or secondary." [] is_a: BFO:0000015 ! process property_value: IAO:0000117 "Sirarat Sarntivjai" xsd:string [Term] id: EFO:0007555 name: high content screening stage def: "An experimental stage describing stages of high content screen analysis" [] is_a: EFO:0007554 ! experimental stage relationship: IAO:0000136 EFO:0005397 ! is_about high content analysis of cells property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007556 name: primary high content screen def: "an initial, exploratory screen" [] synonym: "primary high content screening" EXACT [] synonym: "primary screen" EXACT [] synonym: "primary screening" EXACT [] is_a: EFO:0007555 ! high content screening stage property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007557 name: secondary high content screen def: "a screen to investigate further potential genes or phenotypes of interest. This screen may target orthologous genes in another species. " [] synonym: "secondar high content screening" EXACT [] synonym: "secondary screen" EXACT [] synonym: "secondary screening" EXACT [] is_a: EFO:0007555 ! high content screening stage property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007558 name: validation high content screen def: "a screen to check whether the results in another screen are reproducible. Usually a different reagent targetting genes of interest are used. " [] synonym: "validation high content screening" EXACT [] synonym: "validation screen" EXACT [] synonym: "validation screening" EXACT [] is_a: EFO:0007555 ! high content screening stage property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007559 name: screening library def: "A screening library is a collection of materials engineered to identify qualities of a subset of its members during a screening process." [] xref: OBI:0100064 is_a: EFO:0005066 ! collection of material property_value: definition:citation http://web.mit.edu/dvp/Public/euj72wc9a8l23dtu.pdf xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007560 name: gene deletion library def: "A collection of sets of cells in which a different target gene has been deleted in each set'" [] comment: A nucleic acid library that consists of a collection of gene knockdown reagents, which are capable of reducing the expression of target genes in a biological system. synonym: "gene knockdown library" EXACT [] synonym: "Gene repression library" EXACT [] synonym: "Gene silencing library" EXACT [] xref: ERO:0001198 is_a: EFO:0007559 ! screening library property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007561 name: haploid deletion library def: "a collection of sets of haploid cells in which a different gene has been deleted in each set" [] is_a: EFO:0007560 ! gene deletion library property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007562 name: diploid homozygous deletion library def: "a collection of sets of diploid cells in which a different gene has been deleted in each set, such that both copies of the gene has been deleted" [] is_a: EFO:0007560 ! gene deletion library property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007563 name: RNAi library def: "Nucleic acid library that is comprised of small interfering RNA molecules." [] xref: ERO:0000280 is_a: EFO:0007559 ! screening library property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007564 name: siRNA library def: "RNAi library that is comprised of small (20-25 nucleotides) interfering RNA or silencing RNA that targets mRNA for degradation. siRNAs are synthetic double-stranded RNA. siRNA libraries are NOT in expression vectors. The siRNAs are directly transfected into cells." [] comment: a collection of sets of cells in which a different siRNA has been used to knock down a target gene in each set?\n\n\nExample of usage - An siRNA library may be used to knockdown gene expression to study the function of that gene. xref: ERO:0000283 is_a: EFO:0007563 ! RNAi library property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007565 name: tag protein fusion library def: "a collection of sets of cells in which a different gene is targetted in each set such that it results in a recombinant protein with a polypeptide fusion partner or tag which can be used for protein detection " [] xref: Wikipedia:Fusion_protein is_a: EFO:0007559 ! screening library property_value: definition:citation http://www.biopharminternational.com/fusion-tags-protein-expression-and-purification xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007566 name: GFP protein fusion library def: "a collection of sets of cells in which a different gene is targetted in each set such that it results in a protein fused with the GFP protein" [] synonym: "green fluorescent protein fusion library" EXACT [] is_a: EFO:0007565 ! tag protein fusion library property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007567 name: YFP protein fusion library def: "a collection of sets of cells in which a different gene is targetted in each set such that it results in a protein fused with the YFP protein" [] synonym: "yellow fluorescent protein fusion library" EXACT [] is_a: EFO:0007565 ! tag protein fusion library property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007568 name: HA-Flag protein fusion library def: "a collection of sets of cells in which a different gene is targetted in each set such that it results in a protein fused with HA and FLAG protein epitopes" [] xref: Wikipedia:Tandem_affinity_purification is_a: EFO:0007565 ! tag protein fusion library property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007569 name: compound library def: " The name of a small molecule collection from one source, which can be either commercial or academic, e.g., MLSMR, LOPAC, etc. This collection is generally diverse and contains compounds that modulate diverse biological targets." [] xref: BAO:0000648 is_a: EFO:0007559 ! screening library [Term] id: EFO:0007570 name: HCS protocol def: "A protocol which describes a part of the process in performing a High Content Screen experiment" [] synonym: "high content screen protocol" EXACT [] synonym: "high content screening protocol" EXACT [] is_a: OBI:0000272 ! protocol [Term] id: EFO:0007571 name: HCS library protocol def: "A protocol which provides instructions on how to create the library used in an High Content Screen experiment." [] synonym: "high content screen library protocol" EXACT [] synonym: "high content screening protocol" EXACT [] is_a: EFO:0007570 ! HCS protocol property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007572 name: HCS image acquistion and feature extraction protocol def: "A protocol which provides instructions on how to obtain images and extract features from the images in an High Content Screen experiment." [] synonym: "high content screen image acquistion and feature extraction protocol" EXACT [] synonym: "high content screening image acquistion and feature extraction protocol" EXACT [] is_a: EFO:0007570 ! HCS protocol property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007573 name: HCS data analysis protocol def: "A protocol which provides instructions on how to analyse or interpret the results from images or feature profiles in a High Content Screen experiment" [] synonym: "high content screen data analysis protocol" EXACT [] synonym: "high content screening data analysis protocol" EXACT [] is_a: EFO:0007570 ! HCS protocol property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007574 name: blood toxic metal measurement def: "Quantification of toxic metal in a blood sample" [] is_a: EFO:0001444 ! measurement property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007575 name: blood aluminium measurement def: "Quantification of aluminium in a blood sample" [] is_a: EFO:0007574 ! blood toxic metal measurement relationship: IAO:0000136 CHEBI:28984 ! is_about aluminium atom property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007576 name: blood cadmium measurement def: "Quantification of cadmium in a blood sample" [] is_a: EFO:0007574 ! blood toxic metal measurement relationship: IAO:0000136 CHEBI:22977 ! is_about cadmium atom property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007577 name: blood cobalt measurement def: "Quantification of cobalt in a blood sample" [] is_a: EFO:0007574 ! blood toxic metal measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007578 name: blood copper measurement def: "Quantification of copper in a blood sample" [] is_a: EFO:0007574 ! blood toxic metal measurement relationship: IAO:0000136 CHEBI:28694 ! is_about copper atom property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007579 name: blood chromium measurement def: "Quantification of chromium in a blood sample" [] is_a: EFO:0007574 ! blood toxic metal measurement relationship: IAO:0000136 CHEBI:28073 ! is_about chromium atom property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007580 name: blood mercury measurement def: "Quantification of mercury in a blood sample" [] is_a: EFO:0007574 ! blood toxic metal measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007581 name: blood manganese measurement def: "Quantification of manganese in a blood sample" [] is_a: EFO:0007574 ! blood toxic metal measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007582 name: blood molybdenum measurement def: "Quantification of molybdenum in a blood sample" [] is_a: EFO:0007574 ! blood toxic metal measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007583 name: blood nickel measurement def: "Quantification of nickel in a blood sample" [] is_a: EFO:0007574 ! blood toxic metal measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007584 name: blood zinc measurement def: "Quantification of zinc in a blood sample" [] is_a: EFO:0007574 ! blood toxic metal measurement relationship: IAO:0000136 CHEBI:27363 ! is_about zinc atom property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007585 name: Cannabis use def: "The consumption of the recreational drug cannabis (also known as marijuna and a number of other colloquial names). Cannabis use is illegal in some countries but not in others." [] synonym: "Cannabis consumption" EXACT [] synonym: "Cannabis use behaviour" EXACT [] xref: MedDRA:10070996 is_a: GO:0007610 ! behavior property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007586 name: Cannabis use initiation def: "initiation of the use of cannabis, either regular or occasional" [] is_a: GO:0007610 ! behavior property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007587 name: Oryza sativa cv. Nipponbare def: "An Oryza sativa culivar that is an updated assembly of \"Os-Nipponbare-Reference-IRGSP-1.0\" signifying that it is from rice (Oryza sativa), the Nipponbare cultivar, a high quality reference assembly, from the IRGSP, and version 1.0. We envision that future assemblies of rice will be of draft quality and from other entities, and as is the case with the Nipponbare rice genome, will be updated as new sequencing datasets become available in the future. We are proposing this nomenclature for other rice genome assemblies as an informative way for the community to readily interpret the origin, quality, and iteration of rice genome sequences. One objective in this study was to provide a single unified set of pseudomolecules for two parallel annotation efforts, the RAP (Tanaka et al. 2008, http://​rapdb.​dna.​affrc.​go.​jp/​) and the MSU Rice Genome Annotation Project (Ouyang et al. 2007, http://​rice.​plantbiology.​msu.​edu/​) in which both annotation projects have now updated their annotation with the underlying Os-Nipponbare-Reference-IRGSP-1.0 pseudomolecules and provided this via their project websites." [] comment: Improvement of the Oryza sativa Nipponbare reference genome using next generation sequence and optical map data\n\nYoshihiro Kawahara, Melissa de la Bastide, John P Hamilton, Hiroyuki Kanamori, W Richard McCombie, Shu Ouyang, David C Schwartz, Tsuyoshi Tanaka, Jianzhong Wu, Shiguo Zhou, Kevin L Childs, Rebecca M Davidson, Haining Lin, Lina Quesada-Ocampo, Brieanne Vaillancourt, Hiroaki Sakai, Sung Shin Lee, Jungsok Kim, Hisataka Numa, Takeshi ItohEmail author, C Robin Buell and Takashi Matsumoto\n\nRice20136:4\n\nDOI: 10.1186/1939-8433-6-4\n\n© Kawahara et al.; licensee Springer. 2013\n\nReceived: 6 November 2012\n\nAccepted: 30 January 2013\n\nPublished: 6 February 2013 synonym: "Nipponbare" EXACT [] synonym: "Oryza sativa cultivar Nipponbare" EXACT [] synonym: "Oryza sativa Nipponbare" EXACT [] synonym: "Oryza sativa, Nipponbare" EXACT [] is_a: NCBITaxon:39947 ! Oryza sativa Japonica Group property_value: definition:citation http://thericejournal.springeropen.com/articles/10.1186/1939-8433-6-4 xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007588 name: Triticum aestivum cv. Chinese Spring def: "This Ensembl Plants pre-site contains the first release of the TGACv1 genome assembly of Triticum aestivum cv. Chinese Spring, generated by The Genome Analysis Centre, Norwich, as part of the BBSRC-funded project, Triticeae Genomics for Sustainable Agriculture. The assembly has an N50 of 88 Kb and a total length of 13.4 Gb in contigs greater than 500 bp.\n\nA total of 98,974 genes (99% of the total) annotated on the previously released assembly have been located on the new assembly. Alignments of RNA-seq data from 3 different studies across 18 samples have additionally been located on the new assembly. Data can be searched via gene identifier in the text search box, or via BLAST. Further annotation will be progressively available over the coming months.\n\nThe main Ensembl Plants site (http://plants.ensembl.org/Triticum_aestivum/Info/Index) continues to offer a more mature set of annotation on an assembly comprising the IWGSC Chromosome Survey Sequence data (IWGSC et al. 2015) supplemented by the chromosome 3B assembly (Choulet et al. 2015)." [] synonym: "Chinese Spring" EXACT [] synonym: "Triticum aestivum cultivar Chinese Spring" EXACT [] synonym: "Triticum aestivum, Chinese Spring" EXACT [] is_a: NCBITaxon:4565 ! Triticum aestivum property_value: definition:citation http://pre.plants.ensembl.org/Triticum_aestivum/Info/Index xsd:string property_value: IAO:0000117 http://plants.ensembl.org/Triticum_aestivum/Info/Annotation xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007589 name: etiolation def: "Etiolation: growth habit adopted by germinating seedlings in the dark. Involves rapid extension of shoot and/or hypocotyl and suppression of chlorophyll formation and leaf growth. [database_cross_reference: Online_Medical_Dictionary:http://cancerweb.ncl.ac.uk/]" [] comment: BTO also lists 'culture condition:dark-grown cell' as has_related_synonym to BTO_0003385 (etiolated plant tissue) synonym: "etiolated plant tissue" EXACT [] xref: BTO:0003385 is_a: EFO:0000523 ! growth condition property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007590 name: Zea mays Mo17 inbred line def: " In the late 1980s, use of the inbred line Mo 17 originating from the USA, which carries gene Ht for resistance to NCLB, effectively controlled this disease" [] synonym: "inbred line Mo17" EXACT [] synonym: "Mo17 inbred line" EXACT [] is_a: NCBITaxon:4577 ! Zea mays property_value: definition:citation http://www.sciencedirect.com/science/article/pii/S2214514114000348 xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007591 name: bone mineral accretion measurement def: "quantification of the accruel of bone mineral density over time" [] synonym: "BMA measurement" EXACT [] synonym: "bone density increase measurement" EXACT [] synonym: "bone mineral density change measurement" EXACT [] is_a: EFO:0004512 ! bone measurement relationship: IAO:0000136 EFO:0003923 ! is_about bone density relationship: IAO:0000136 UBERON:0001474 ! is_about bone element property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007592 name: response to bleomycin def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a bleomycin stimulus. Bleomycin acts by induction of DNA strand breaks" [] is_a: GO:0097327 ! response to antineoplastic agent relationship: IAO:0000136 CHEBI:22907 ! is_about bleomycin property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007593 name: chromatid break measurement def: "Quantification of the level of DNA strand breaks in a cell, for example induced by an antineoplastic agent such a bleomycin. Chromatid breaks can be assessed under the microscope in dividing cells during metaphase." [] is_a: EFO:0004554 ! genomic measurement relationship: IAO:0000136 CHEBI:16991 ! is_about deoxyribonucleic acid relationship: IAO:0000136 EFO:0004420 ! is_about genome property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007598 name: HAP-1 def: "HAP1 is a near-haploid human cell line that was derived from the male chronic myelogenous leukemia (CML) cell line KBM-7. HAP1 cells are adherent with fibroblast-like morphology." [] synonym: "HAP1" EXACT [] xref: PMID:3466682 is_a: EFO:0005903 ! KBM-7 relationship: has_characteristic EFO:0000339 ! chronic myelogenous leukemia relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation https://www.horizondiscovery.com/knowledge-base/faqs-hap1-knockout-cell-lines#B xsd:string [Term] id: EFO:0007599 name: L1-S8 def: "L1-S8 is a partially reprogrammed cell line generated from human bone marrow mononuclear cells (BMMCs) after prestimulation with early cytokines (TPO, FL, SCF, IL-3) and transduced with Sendai viruses expressing the four factors OCT4, SOX2, KLF4 and cMYC. It originated from a single colony manually picked and clonal expanded." [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005740 ! iPSC derived cell line property_value: definition:citation https://www.encodeproject.org/biosamples/ENCBS259CUZ/ xsd:string [Term] id: EFO:0007600 name: L1-S8R def: "L1-S8R is a human iPSC line derived from L1-S8 after transduction with lentiviral vector pLM-fSV2A (Papapetrou et al NBT 2011) expressing OCT4, SOX2, KLF4 and cMYC." [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005740 ! iPSC derived cell line property_value: definition:citation https://www.encodeproject.org/biosamples/ENCBS023FES/ xsd:string [Term] id: EFO:0007601 name: MN1 def: "MN1 is a cholinergic motor neuron cell line derived from a fusion of N18TG2 with embryonic mouse spinal cord motor neurons (clone 2F1.10.14.7)" [] is_a: EFO:0002887 ! mouse cell line property_value: definition:citation http://www.jbc.org/content/271/52/33358.full xsd:string [Term] id: EFO:0007602 name: total ventricular volume measurement def: "quantification of the total volume of a brain's four ventricles, usuallly through an MRI scan" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007605 name: Blackmount ecotype def: "Arabidopsis thaliana ecotype of geographical location Blackmount, UK" [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007606 name: Ba-1 def: "Common Name thale cress, thale-cress, mouse-ear cress\nClass ecotype\nType Brassicaceae\nDescription Blackmount, UK" [] synonym: "Arabidopsis thalia ecotype Ba-1" EXACT [] synonym: "Arabidopsis thaliana Ba-1" EXACT [] is_a: EFO:0007605 ! Blackmount ecotype property_value: definition:citation http://www.pathoplant.de/detail.php?accNo=PL000029 xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007607 name: Lipowiec ecotype def: "Arabidopsis thaliana of geographical location Lipowiec/Chrzanow Poland" [] synonym: "Arabidopsis thaliana Lipowiec ecotype" EXACT [] synonym: "Lip-0" EXACT [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation https://www.arabidopsis.org/servlets/TairObject?type=species_variant&id=235 xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007608 name: T1080 def: "Country Sweden\nLocation Staff 11\nLatitude (min/max) 55.6561 / 55.6561 " [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation https://www.arabidopsis.org/servlets/TairObject?type=species_variant&id=1500501314 xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007609 name: Pedriza ecotype def: "Arabidopsis thaliana of geographical location Pedriza Spain" [] synonym: "Arabidopsis thaliana Pedriza ecotype" EXACT [] synonym: "Ped-0" EXACT [] is_a: NCBITaxon:3702 ! Arabidopsis thaliana property_value: definition:citation https://www.arabidopsis.org/servlets/TairObject?type=species_variant&id=1500501426 xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007610 name: RWPE2 def: "RWPE-2 cells were derived from RWPE-1 cells (ATCC CRL-11609) by transformation with Ki-ras using the Kirsten murine sarcoma virus (Ki-MuSV)." [] synonym: "CRL-11610" EXACT [] synonym: "RWPE 2" EXACT [] synonym: "RWPE_2" EXACT [] xref: ATCC:CRL-11610 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002891 ! prostate derived cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0007611 name: SU-DHL-2 def: "Human anaplastic large cell lymphoma cell line, established from the pleural effusion of a 73-year-old female. Most of these cells were hyperdiploid, with a sharp modal number of 51 chromosomes; occasional cells in the hypertetraploid range were also seen. A minute marker chromosome was consistently observed, and increased numbers of chromosomes were seen in the A, B, C, and F groups" [] synonym: "CRL-2956" EXACT [] synonym: "DHL-2" EXACT [] synonym: "SUDHL-2" EXACT [] xref: ATCC:CRL-2956 xref: BTO:0006463 xref: RRID:CVCL_9550 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000574 ! lymphoma relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007612 name: response to montelukast def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with montelukast, a leukotriene receptor antagonist used for the maintenance treatment of asthma and to relieve symptoms of seasonal allergies" [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007613 name: response to endocrine therapy def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of endocrine therapy. Endocrine therapy, also called hormone therapy, adds, blocks or removes the body's natural hormones to treat a disease, most commonly breast cancer" [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007614 name: asthma exacerbation measurement def: "quantification of acute asthma exacerbations in an individual, generally defined by short courses of treatment with medication such as oral steroids." [] xref: PMID:26073756 is_a: EFO:0010049 ! asthma symptoms measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007615 name: thrombus formation measurement def: "quantification of some aspect of thrombus formation, ie the formation of a blood clot inside a blood vessel through the aggregation of platelets and fibrin" [] xref: PMID:22550155 is_a: EFO:0005036 ! platelet measurement relationship: IAO:0000136 CL:0000233 ! is_about platelet property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007616 name: hearing measurement def: "quantification of some aspect of hearing" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007617 name: pure tone hearing measurement def: "quantification of an individual's hearing thresholds through exposure to pure tone stimuli" [] synonym: "pure tone audiometry" EXACT [] is_a: EFO:0007616 ! hearing measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007618 name: hearing threshold measurement def: "quantification of the highest and/or lowest frequency of sound perceived by an individual" [] is_a: EFO:0007616 ! hearing measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007619 name: suicide ideation measurement def: "quantification of suicide ideation " [] is_a: EFO:0006882 ! suicide behaviour measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007620 name: volumetric bone mineral density def: "quantification of the mineral mass per unit volume of bone, generally expressed in grams per cubic centimeter or per ml. This is not to be confused with bone mineral density as calculated per unit area of bone (grams per square centimeter), which is the definition most commonly used in clinical practice." [] is_a: EFO:0004516 ! bone fracture related measurement relationship: IAO:0000136 EFO:0003931 ! is_about bone fracture relationship: IAO:0000136 EFO:0004260 ! is_about bone disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007621 name: bone mineral content measurement def: "quantification of the form or content of one or more of the mineral components of bone" [] synonym: "BMC measurement" EXACT [] is_a: EFO:0004516 ! bone fracture related measurement relationship: IAO:0000136 EFO:0003931 ! is_about bone fracture relationship: IAO:0000136 EFO:0004260 ! is_about bone disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007622 name: sRAGE measurement def: "quantification in a plasma sample of the levels of soluble Receptor for Advanced Glycation End-products (sRAGE). sRAGE is a strong markers of vascular outcomes" [] synonym: "soluble receptor for advanced glycation end-products measurement" EXACT [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007623 name: suicide behaviour def: "Any behaviour related to suicide, including suicide ideation and self-harm" [] is_a: GO:0007610 ! behavior property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007624 name: suicide def: "the process of deliberately and successfully terminating one's life" [] xref: MedDRA:10042462 is_a: EFO:0007623 ! suicide behaviour property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007625 name: asthenia def: "Clinical sign or symptom manifested as debility, or lack or loss of strength and energy." [] xref: MedDRA:10003549 xref: MeSH:D001247 xref: NCIt:C28132 xref: SNOMEDCT:13791008 is_a: EFO:0003765 ! sign or symptom property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007626 name: emphysema imaging measurement def: "Quantification of some aspect, eg the presence/absence or severity of emphysema through the use of imaging techniques such as CT scans" [] is_a: EFO:0007627 ! airway imaging measurement relationship: IAO:0000136 EFO:0000684 ! is_about respiratory system disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007627 name: airway imaging measurement def: "Quantification of the size of or level of damage to a person's airways using medical imaging techniques such as CT scans. This approach is used in the diagnosis and assessment of respiratory disorders such as COPD and emphysema" [] is_a: EFO:0006841 ! respiratory disease biomarker relationship: IAO:0000136 EFO:0000684 ! is_about respiratory system disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007628 name: gas trapping measurement def: "Quantification of the amount of air that is abnormally retained in the lungs at the end of an exhalation. " [] is_a: EFO:0006841 ! respiratory disease biomarker relationship: IAO:0000136 EFO:0000684 ! is_about respiratory system disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007629 name: hemoglobin A1 measurement def: "Hemoglobin A1 measurement is a measure of the quantity of the metallo protein hemoglobin A. Hemoglobin A (HbA), also known as adult hemoglobin or a2b2, is the most common human hemoglobin tetramer, comprising over 97% of the total red blood cell hemoglobin. It consists of two alpha chains and two beta chains." [] synonym: "HbA levels" EXACT [] synonym: "HbA1 levels" EXACT [] synonym: "hemoglobin A measurement" EXACT [] synonym: "hemoglobin A1 levels" EXACT [] xref: NCIt:C92258 xref: SNOMEDCT:313995005 is_a: EFO:0004509 ! hemoglobin measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein property_value: definition:citation https://en.wikipedia.org/wiki/Hemoglobin_A xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007630 name: glycerophospholipid measurement def: "Is a quantification, typically in blood, of glycerophospholipids, a group of glycerol-based phospholipids" [] is_a: EFO:0004639 ! phospholipid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007631 name: hexose measurement def: "Is a quantification of the monosaccharide hexose in a sample, typically in blood" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007632 name: postprandial hyperlipidemia def: "elevated levels of blood lipids as a result of a high-fat meal" [] synonym: "postprandial lipidemia" EXACT [] is_a: MONDO:0021187 ! hyperlipidemia property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007633 name: response to thioamide def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a thioamide stimulus. Thioamides are generally used as anti-thyroid drugs" [] synonym: "response to thionamide" EXACT [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007634 name: major depressive episode def: "period of major depressive symptoms that occurs as part of a wider mental or psychiatric disorder such as bipolar disorder" [] is_a: HP:0000708 ! Atypical behavior property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007635 name: concentration dose ratio def: "Quantification of the metabolism rate of drugs such as psychotropic drugs, defined as the quotient of a drug's serum concentration (in nmol/L) by its prescribed daily dosage (in mg/day). This measure can also be standardised to allow comparison across multiple drugs by dividing individual CDR values by a reference CDR for the specific drug. " [] synonym: "CDR measurement" EXACT [] xref: PMID:25944848 is_a: EFO:0005115 ! metabolic rate measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007636 name: attention function measurement def: "quantification of an individual's attention function through administration of one or more standardised tests such as the Connors Continuous Performance Test-II (CPT-II)" [] is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0003888 ! is_about attention deficit hyperactivity disorder property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007637 name: traditional Chinese medicine type def: "one of several constitutional types used to classify individuals in traditional Chinese medicine" [] synonym: "TCM type" EXACT [] is_a: BFO:0000019 ! quality property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007638 name: Yu-Zhi constitution type def: "One of the constitution types used in TCM. The Yu-Zhi (YZ) constitution in TCM indicates stasis and stagnation, which expressed dull, lusterless skin color; dry, cracked, scaly or tough skin; dull purple lips or tongue; localized pain or numb- ness; knotted, intermittent, or uneven pulse. It is one of the body constitutions that tend to express blood stasis syndrome (BSS), a morbid state caused by blood circula- tion disturbance, included extravasated blood, blood circulating sluggishly, or blood congested in viscera, that may turn into pathogenic factors." [] xref: PMID:26169365 is_a: EFO:0007637 ! traditional Chinese medicine type property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0007639 name: minimal erythema dose def: "quantification of an individual's sensitity to UV radiation, defined as the shortest exposure to ultraviolet radiation that produces reddening of the skin within 1 to 6 hr and disappears in 24 hr" [] synonym: "MED" EXACT [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007640 name: embryonic day 12 def: "mouse embryo stage at age 12 days" [] is_a: EFO:0005857 ! mouse embryo stage property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007641 name: embryonic day 9.5 def: "mouse embryo stage at age 9.5 days" [] is_a: EFO:0005857 ! mouse embryo stage property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007642 name: embryonic day 13 def: "mouse embryo stage at age 13 days" [] is_a: EFO:0005857 ! mouse embryo stage property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007643 name: embryonic day 10.5 def: "mouse embryo stage at age 10.5 days" [] is_a: EFO:0005857 ! mouse embryo stage property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007644 name: embryonic day 9 def: "mouse embryo stage at age 9 days" [] is_a: EFO:0005857 ! mouse embryo stage property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007645 name: longitudinal alcohol consumption measurement def: "quantification of some aspect of alcohol consumption over a long period of time (typically several years)" [] xref: PMID:26081443 is_a: EFO:0007878 ! alcohol consumption measurement relationship: IAO:0000136 EFO:0004329 ! is_about alcohol drinking property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007646 name: amyloid plaque accumulation rate def: "quantification of accumulation of amyloid plaques in the brain over a long period of time (typically several years), measured by using PET scan imaging technology. The accumulation of amyloid plaques can be a biomarker for Alzheimer's disease" [] xref: PMID:26268530 is_a: EFO:0004464 ! brain measurement is_a: EFO:0006514 ! Alzheimer's disease biomarker measurement relationship: IAO:0000136 MONDO:0004975 ! is_about Alzheimer disease relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007647 name: response to vancomycin def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus with vancomycin, an antibiotic used to fight infections by gram-positive bacteria unresponsive to other antibiotics" [] is_a: GO:0046677 ! response to antibiotic property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007648 name: vancomycin trough measurement def: "quantification of the lowest concentration of vancomycin in a patient's blood during the course of treatment. Trough measurements are used to calculate the rate of absorption of the drug and determine the optimum time for administering the next dose" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007649 name: renal elimination rate measurement def: "quantification of the rate at which the kidneys eliminate a substance from the blood stream" [] is_a: EFO:0004742 ! renal system measurement relationship: IAO:0000136 EFO:0003086 ! is_about kidney disease relationship: IAO:0000136 UBERON:0001008 ! is_about renal system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007650 name: soluble interleukin-2 receptor subunit alpha measurement def: "quantification of the amount of soluble interleukin-2 receptor subunit alpha in a sample" [] synonym: "sIL-2Ra measurement" EXACT [] is_a: EFO:0004873 ! cytokine measurement relationship: IAO:0000136 EFO:0004100 ! is_about interleukin property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007651 name: urinary S-phenylmercapturic acid measurement def: "quantification in a urine sample of S-phenylmercapturic acid, a specific biomarker of benzene uptake in smokers" [] synonym: "urinary SPMA measurement" EXACT [] is_a: EFO:0005116 ! urinary metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007652 name: health trait def: "The characteristics in health that a certain person has." [] is_a: BFO:0000019 ! quality property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007653 name: clinical ideal cardiovascular health def: "the characteristics of a person's cardiovascular health based on a number of factors including cholesterol levels in the absence of treatment, blood pressure and diabetes status" [] xref: PMID:27179730 is_a: EFO:0007652 ! health trait property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007654 name: clinical and behavioural ideal cardiovascular health def: "the characteristics of a person's cardiovascular health based on a number of factors including cholesterol levels in the absence of treatment, blood pressure, diabetes status, BMI and smoking status" [] xref: PMID:27179730 is_a: EFO:0007652 ! health trait property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007655 name: clusterin measurement def: "quantification of the amount of the glycoprotein clusterin in a sample. Clusterin is also known as apolipoprotein J and plays a role in several cellular processes including apoptosis, proliferation, and clearance of misfolded proteins" [] synonym: "apolipoprotein J measurement" EXACT [] synonym: "CLU measurement" EXACT [] is_a: EFO:0004555 ! glycoprotein measurement is_a: EFO:0004732 ! lipoprotein measurement relationship: IAO:0000136 CHEBI:17089 ! is_about glycoprotein relationship: IAO:0000136 EFO:0003836 ! is_about lipoprotein property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007656 name: plasma clusterin measurement def: "quantification of the amount of the clusterin in a sample of blood plasma" [] is_a: EFO:0007655 ! clusterin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007657 name: cerebrospinal fluid clusterin measurement def: "quantification of the amount of the clusterin in a sample of cerebrospinal fluid" [] synonym: "CSF clusterin measurement" EXACT [] is_a: EFO:0007655 ! clusterin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007658 name: carrier status def: "quantification of the presence or absence of a marker, eg a gene or a substance, in a sample" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007659 name: APOE carrier status def: "quantification of the presence or absence of apolipoprotein E (APOE) in an individual" [] is_a: EFO:0007658 ! carrier status property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007660 name: neuroticism measurement def: "Quantification of some aspect of neuroticism or neurotic behaviour, such as severity or frequency of neurotic behaviour. This is usually assessed via a standardised questionnaire." [] is_a: EFO:0006848 ! mental or behavioural disorder biomarker is_a: EFO:0007911 ! personality trait measurement relationship: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007661 name: response to lamotrigine def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lamotrigine stimulus, an anti-epileptic drug." [] is_a: GO:0036277 ! response to anticonvulsant property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0007662 name: response to triptolide def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a triptolide stimulus. Triptolide is a therapeutic diterpenoid derived from the Chinese herb Tripterygium wilfordii and has been shown to induce apoptosis by activation of pro-apoptotic proteins, inhibiting NFkB and c-KIT pathways, suppressing the Jak2 transcription, activating MAPK8/JNK signaling and modulating the heat shock responses." [] xref: PMID:26121980 is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007663 name: childhood aggressive behaviour measurement def: "quantification of some aspect of aggressive behaviour during childhood, usually assessed through the use of standardised questionnaires. Childhood aggressive behaviour is a criterion for disruptive behavior disorders such as oppositional defiant disorder (ODD) and conduct disorder (CD) [American Psychiatric Association, 2013]. Aggressive behavior is also implicated in neurodevelopmental disorders such as attention deficit hyperactivity disorder (ADHD) [Hamshere et al., 2013], autism spectrum disorder (ASD) [Mandy et al., 2013], dysregulated behavior [Pope and Bierman, 1999], substance use disorders [White et al., 2013], antisocial personality disorder [Schaeffer et al., 2003], and schizophrenia [Volavka, 2013] later in life." [] xref: PMID:26087016 is_a: EFO:0006848 ! mental or behavioural disorder biomarker is_a: EFO:0007826 ! aggressive behaviour measurement relationship: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder relationship: IAO:0000136 EFO:0003015 ! is_about aggressive behavior property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007664 name: outer ear morphology trait def: "Any measurable or observable characteristic related to the shape, structure, color, or pattern of the fine, keratinized filamentous growths arising from the epidermis of mammals." [] is_a: EFO:0000651 ! phenotype property_value: definition:citation http://purl.obolibrary.org/obo/VT_0002177 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007665 name: ear protrusion def: "the physical distance from the outer edge of the outer ear to the head" [] synonym: "outer ear prominence" EXACT [] is_a: EFO:0007664 ! outer ear morphology trait property_value: definition:citation http://purl.obolibrary.org/obo/VT_0000021 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007666 name: lobe size def: "Any measurable or observable characteristic related to the physical magnitude of the soft tissue at the base of the outer ear; consists of fat and fibrous tissue not reinforced by the auricular cartilage." [] is_a: EFO:0007664 ! outer ear morphology trait property_value: definition:citation http://purl.obolibrary.org/obo/VT_0003679 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007667 name: lobe attachment def: "Any measurable or observable characteristic related to the physical attachment of the soft tissue at the base of the outer ear to the head. If an earlobe hangs free, it is referred to as \"detached\". If it connects directly to the side of the head, it is referred to as \"attached\". Earlobe attachment is a continuous trait: while most earlobes can be neatly categorised as attached or detached, some are in-between." [] synonym: "earlobe attachment" EXACT [] is_a: EFO:0007664 ! outer ear morphology trait property_value: definition:citation http://purl.obolibrary.org/obo/VT_0000367 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007668 name: tragus size def: "Any measurable or observable characteristic related to the size of the tragus, a small pointed eminence of the external ear, situated in front of the concha, and projecting backward over the meatus" [] is_a: EFO:0007664 ! outer ear morphology trait property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007669 name: antitragus size def: "Any measurable or observable characteristic related to the size of the antitragus, a feature of human ear anatomy. It is a small tubercle that points anteriorly. It is separated from the tragus by the intertragic notch." [] is_a: EFO:0007664 ! outer ear morphology trait property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007670 name: helix rolling def: "Any measurable or observable characteristic related to the shape and structure of the helix, the outer rim of the ear. The border of the helix usually forms a rolled rim but it is highly variable in shape." [] is_a: EFO:0007664 ! outer ear morphology trait property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007671 name: folding of antihelix def: "Any measurable or observable characteristic related to the shape and structure of the antihelix, a Y-shaped curved cartilaginous ridge arising from the antitragus and separating the concha, triangular fossa, and scapha. The antihelix represents a folding of the conchal cartilage and it usually has similar prominence to a well-developed helix. The stem (the part below the bifurcation) of the normal antihelix is gently curved and branches about two thirds of the way along its course to form the broad fold of the superior (posterior) antihelical crus, and the more sharply folded inferior (anterior) crus. The inferior and superior crura of the antihelix can vary both in volume and degree of folding." [] is_a: EFO:0007664 ! outer ear morphology trait property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007672 name: crus helix expression def: "Any measurable or observable characteristic related to the shape and structure of the crus helix, the continuation of the anteroinferior ascending helix, which extends in a posteroinferior direction into the cavity of the concha above the external auditory meatus. The average crus helix extends about one half to two thirds the distance across the concha. " [] is_a: EFO:0007664 ! outer ear morphology trait property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007673 name: superior crus of antihelix expression def: "Any measurable or observable characteristic related to the shape and structure of the upper cartilaginous ridge arising at the bifurcation of the antihelix that separates the scapha from the triangular fossa. The superior crus runs in a superior and slightly anterior direction and is usually less sharply folded than the lower portion and inferior crus. " [] is_a: EFO:0007664 ! outer ear morphology trait property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007674 name: Darwin's tubercule def: "a congenital ear condition which often presents as a thickening on the helix at the junction of the upper and middle thirds." [] is_a: EFO:0007664 ! outer ear morphology trait property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007675 name: metastasis measurement def: "quantification of some aspect of cancer metastases, incl presence/abscence, size, location or origin" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007676 name: response to zileuton def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with zileuton, a leukotriene inhibitor used for the maintenance treatment of asthma " [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007677 name: LDL peak particle diameter measurement def: "peak distance between two specified opposite points on the periphery of blood-derived low-density lipoprotein (LDL) particles" [] synonym: "low density lipoprotein peak particle diameter measurement" EXACT [] is_a: EFO:0004732 ! lipoprotein measurement relationship: IAO:0000136 EFO:0003836 ! is_about lipoprotein property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007678 name: total fat intake measurement def: "quantification of the total amount of dietary fat consumed by an individual" [] is_a: EFO:0008111 ! diet measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007679 name: oppositional defiant disorder measurement def: "quantification of some aspect of oppositional defiant disorder such as irritability or number of temper tantrums, usually assessed by means of standardised questionnaires" [] is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder relationship: IAO:0000136 HP:0010865 ! is_about Oppositional defiant disorder property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007680 name: gait measurement def: "quantification of some aspect of a person's gait such as rhythm, variability or step length" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007681 name: triglyceride change measurement def: "quantification of the change in triglyceride levels in an individual over time, eg over the course of several hours after a high-fat meal " [] is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007682 name: response to cetuximab def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus with the epithelial growth factor inhibitor cetuximab." [] is_a: GO:0097327 ! response to antineoplastic agent property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007683 name: response to CAPOX-B def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus with a combination of the chemotherapy drugs capecitabine, oxaliplatin and bevacizumab, known as the CAPOX-B cocktail" [] is_a: GO:0097327 ! response to antineoplastic agent property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007684 name: response to high fat food intake def: "physiological response of an organism, eg in terms of blood lipid levels, to the ingestition of high fat food" [] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007685 name: trichloroethylene-induced hypersensitivity def: "physiological response of an organism to trichloroethylene, an industrial chemical which has been identified with neurotoxicity, hepatotoxicity, kidney toxicity, and immunotoxicity. Trichloroethylene induced hypersensitivity is a serious occupational health issue. The main clinical symptoms of this condition are cutaneous lesions, which ranges from mild forms such as multiform erythema to severe condition such as exfoliative dermatitis, Stevens-Johnson syndrome, and toxic epidermal necrolysis accompanying hepatitis, fever, leukocytosis and lymphadenopathy" [] xref: PMID:26190474 is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007686 name: surgical shock def: "A type of shock that occurs as a result of a surgical procedure." [] synonym: "shock, surgical" EXACT [] xref: MedDRA:10049519 xref: MeSH:D012773 is_a: EFO:0003765 ! sign or symptom property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007687 name: microRNA profiling by RT-PCR def: "An assay in which a set of microRNAs of a biological sample is analysed by reverse transcription PCR (RT-PCR)" [] is_a: EFO:0001457 ! RNA assay is_a: EFO:0002696 ! assay by array is_a: EFO:0002943 ! transcription profiling by RT-PCR relationship: RO:0000057 EFO:0002698 ! has_participant array property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007688 name: chromosome conformation capture assay def: "Chromosome conformation capture techniques were designed to analyse the 3-dimensional organisation and interaction of chromatin in a cell. This class of techniques always begin with cross-linking of chromatin, to preserve interactions with genomic loci. Next, DNA is fragmented. Traditional chromosome conformation capture techniques rely on a subsequent proximity ligation step, although ligation-free chromosome conformation assays have also been developed." [] is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007689 name: 3C def: "3C stands for \"chromosome conformation capture\", which is the original method developed for the class of techniques later collectively also called \"chromosome conformation capture\". A 3C experiment quantifies interactions between a single pair of genomic loci, which can be used, for example, to detect promoter-enhancer interactions. Ligated fragments are detected using PCR with known primers." [] synonym: "3-C" EXACT [] is_a: EFO:0002696 ! assay by array is_a: EFO:0007688 ! chromosome conformation capture assay relationship: RO:0000057 EFO:0002698 ! has_participant array property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007690 name: 4C def: "Chromosome conformation capture-on-chip (4C) is an extension of the 3C (Chromosome conformation capture) technique that studies 3-dimensional organisation and interaction of chromatin in a cell. 4C captures interactions between one specific locus and all other genomic loci. It involves a second ligation step, to create self-circularized DNA fragments, which are used to perform inverse PCR. Inverse PCR allows the known sequence to be used to amplify the unknown sequence ligated to it. In contrast to 3C and 5C, the 4C technique does not require the prior knowledge of both interacting chromosomal regions. Results obtained using 4C are highly reproducible with most of the interactions that are detected between regions proximal to one another. On a single microarray, approximately a million interactions can be analyzed." [] synonym: "4-C" EXACT [] is_a: EFO:0002696 ! assay by array is_a: EFO:0009967 ! ligation-mediated chromosome conformation capture assay relationship: RO:0000057 EFO:0002698 ! has_participant array property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007691 name: Capture-C def: "Capture-C combines 3C and next-gen sequencing with oligonucleotide capture technology (OCT). OCT allows for hundreds of regions of interest to be isolated from a sample using specially designed RNA in solution. In Capture-C, a standard 3C experiment is performed; however the 3C ligated fragments are sonicated at the end. This allows the OCT protocol to enrich for the selected regions of interest. These enriched fragments are then sequenced. By performing an OCT, the cost and scale of the sequencing is greatly reduced, allowing many more samples to be processed, hence higher-throughput and improves the genomic resolution" [] is_a: EFO:0003740 ! assay by sequencer is_a: EFO:0007688 ! chromosome conformation capture assay relationship: RO:0000057 EFO:0003739 ! has_participant sequencer property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007692 name: 5C def: "5C stands for \"Chromosome conformation capture carbon copy\". It is an extension of the original 3C technique that studies 3-dimensional organisation and interaction of chromatin in a cell. It detects interactions among all loci by ligating universal primers to all fragments. As a result, the whole genome is covered, albeit at a relatively low coverage. The 5C technique overcomes the junctional problems at the intramolecular ligation step and is useful for constructing complex interactions of specific loci of interest. " [] synonym: "5-C" EXACT [] is_a: EFO:0003740 ! assay by sequencer is_a: EFO:0009967 ! ligation-mediated chromosome conformation capture assay relationship: RO:0000057 EFO:0003739 ! has_participant sequencer property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007693 name: Hi-C def: "Hi-C is a method for analysing 3-dimensional organisation and interaction of chromatin, belonging to the class of techniques collectively called \"Chromosome Conformation Capture\", in which chromatin is crosslinked, then digested, and re-ligated in such a way that only DNA fragments that are covalently linked together form ligation products. Together with 5C, Hi-C does not limit to the study to a specific locus in the genome, and can be used to study chromatin interaction across the genome. To achieve high-throughput, a biotin-labeled nucleotide is incorporated at the ligation junction, enabling selective purification of chimeric DNA ligation junctions followed by deep sequencing. Mapping the sequenced reads back to genome will reveal the origin of the fragments involved in the ligation events." [] is_a: EFO:0003740 ! assay by sequencer is_a: EFO:0009967 ! ligation-mediated chromosome conformation capture assay relationship: RO:0000057 EFO:0003739 ! has_participant sequencer property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007694 name: Caenorhabditis elegans larval stage def: "Under environmental conditions which are favourable for reproduction, hatched larvae develop through four stages or molts, designated as L1 to L4. When conditions are stressed as in food insufficiency, C. elegans can enter an alternative third larval stage called the dauer state. Dauer is German for permanent. Dauer larvae are stress-resistant; they are thin and their mouths are sealed and cannot take in food, and they can remain in this stage for a few months.[14] Hermaphrodites produce all their sperm in the L4 stage (150 sperm per gonadal arm) and then produce only oocytes. The sperm cells are stored in the same area of the gonad as the oocytes until the first oocyte pushes the sperm into the spermatheca (a chamber wherein the oocytes become fertilized by the sperm)." [] synonym: "C. elegans larval stage" EXACT [] synonym: "larva Ce" EXACT [] xref: WBls:0000023 xref: Wikipedia:Caenorhabditis_elegans is_a: UBERON:0000069 ! larval stage property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007695 name: Danio rerio larval stage def: "Zebrafish have the ability to regenerate their fins, skin, heart, lateral line hair cells, and, during their larval stages, brain." [] synonym: "D. rerio larval stage" EXACT [] synonym: "zebrafish larval stage" EXACT [] xref: Wikipedia:Zebrafish xref: ZFS:0000048 is_a: UBERON:0000069 ! larval stage property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007696 name: larval protruding mouth def: "Protruding-mouth stage (72 h):\n\nModified from: Kimmel et al., 1995. Developmental Dynamics 203:253-310. Copyright © 1995 Wiley-Liss, Inc. Reprinted only by permission of Wiley-Liss, a subsidiary of John Wiley & Sons, Inc.\n\nEL = 3.5 mm, HTA = 25 degrees. The mouth is wide open and it protrudes anteriorly just beyond the eye.\n\nThe blade of the pectoral fin continues to expand, now extending posteriorly over most of the length of the diminishing yolk ball " [] synonym: "larval protruding-mouth stage" EXACT [] synonym: "Larval: Protruding-mouth" EXACT [] xref: ZFS:0000035 is_a: EFO:0007695 ! Danio rerio larval stage property_value: definition:citation https://www.zfin.org/zf_info/zfbook/stages/larv_stgs.html xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007697 name: left superior temporal gyrus grey matter volume measurement def: "quantification of the volume of grey matter in the left superior temporal gyrus, usuallly through an MRI scan" [] is_a: EFO:0005420 ! grey matter volume measurement relationship: IAO:0000136 MONDO:0005090 ! is_about schizophrenia relationship: IAO:0000136 UBERON:0000955 ! is_about brain relationship: IAO:0000136 UBERON:0002769 ! is_about superior temporal gyrus property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007698 name: GBA carrier status def: "quantification of the presence or absence of a mutation in the gene for Glucocerebrosidase (GBA) in an individual" [] is_a: EFO:0007658 ! carrier status relationship: IAO:0000136 MONDO:0005180 ! is_about Parkinson disease property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007699 name: eye movement measurement def: "quantification of some aspect of eye movement" [] is_a: EFO:0004731 ! eye measurement relationship: IAO:0000136 UBERON:0000970 ! is_about eye property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007700 name: exploratory eye movement measurement def: "quantification of a participant’s eye tracking while viewing stationary S-shaped figures" [] is_a: EFO:0006848 ! mental or behavioural disorder biomarker is_a: EFO:0007699 ! eye movement measurement relationship: IAO:0000136 MONDO:0005090 ! is_about schizophrenia property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007701 name: spine bone mineral density def: "mineral density of the spine bones" [] is_a: EFO:0003923 ! bone density relationship: IAO:0000136 UBERON:0002412 ! is_about vertebra property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007702 name: hip bone mineral density def: "mineral density of the hip bone" [] is_a: EFO:0003923 ! bone density relationship: IAO:0000136 UBERON:0000981 ! is_about femur property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007703 name: hystidil-tRNA synthetase autoantibody measurement def: "quantification in a sample of autoantibodies against hystidil-tRNA synthetase, an enzyme which in humans is encoded by the HARS gene" [] synonym: "Jo-1 autoantibody measurement" EXACT [] is_a: EFO:0004866 ! autoantibody measurement property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007704 name: depressive episode measurement def: "quantification of some aspect, eg frequency or severity, of depressive episodes in patients with mental or behavioural disorders such as bipolar disorder or clinical depression" [] is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007705 name: manic episode measurement def: "quantification of some aspect, eg frequency or severity, of manic episodes in patients with bipolar disorder" [] is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 MONDO:0004985 ! is_about bipolar disorder property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007706 name: manic or hypomanic episode def: "period of manic or hypomanic symptoms that occurs as part of a wider mental or psychiatric disorder such as bipolar disorder" [] xref: ICD10:F30 is_a: HP:0000708 ! Atypical behavior property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007707 name: cerebral amyloid deposition measurement def: "quantification by PET scan imaging or other techniques of the deposition of amyloid proteins in any part of the cerebral cortex" [] xref: PMID:26252872 is_a: EFO:0004747 ! protein measurement is_a: EFO:0006514 ! Alzheimer's disease biomarker measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 MONDO:0004975 ! is_about Alzheimer disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007708 name: t-tau:beta-amyloid 1-42 ratio measurement def: "quantification of the ratio of t-tau protein to beta-amyloid 1-42 protein in a sample" [] xref: PMID:26252872 is_a: EFO:0004747 ! protein measurement is_a: EFO:0006514 ! Alzheimer's disease biomarker measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 MONDO:0004975 ! is_about Alzheimer disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007709 name: p-tau:beta-amyloid 1-42 ratio measurement def: "quantification of the ratio of p-tau protein to beta-amyloid 1-42 protein in a sample" [] xref: PMID:26252872 is_a: EFO:0006514 ! Alzheimer's disease biomarker measurement relationship: IAO:0000136 MONDO:0004975 ! is_about Alzheimer disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007710 name: cognitive decline measurement def: "quantification of some aspect of cognitive decline such as the rate at which it occurs or its severity, for example in patients with dementia or Alzheimer's disease. Cognitive decline is ususally assessed using a structured-interview protocol covering a number of standardised areas." [] is_a: EFO:0007998 ! cognitive impairment measurement relationship: IAO:0000136 HP:0001268 ! is_about Mental deterioration property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007711 name: Platyhelminthes life stage def: "Any developmental stage in Platyhelminthes (flatworms)" [] synonym: "flatworm developmental stage" EXACT [] synonym: "flatworm life stage" EXACT [] synonym: "platyhelminth developmental stage" EXACT [] synonym: "Platyhelminthes developmental stage" EXACT [] xref: WBls:0000704 is_a: EFO:0000399 ! developmental stage property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007712 name: cercarium def: "An infectious life-cycle stage, which can infect by direct skin penetration (e.g. Schistosoma sp.) or ingestion (e.g. Fasciola sp.). Cercariae develop in and emerge from the intermediate invertebrate (snail) host. In Schistosoma sp., the cercarium attaches to the skin of the definitive host and secretes proteolytic enzymes helping it to enter into cutaneous capillary vessel; upon the penetration the cercarium sheds its tail and transforms into a schistosomulum. In Fasciola sp., cercariae encyst on vegetation as dormant metacercariae until ingestion by the definitive host." [] synonym: "cercariae" EXACT [] xref: WBls:0000708 is_a: EFO:0007711 ! Platyhelminthes life stage property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007713 name: 3 hr schistosomulum def: "A tailless cercarium of Schistosoma sp, 3 hours post-infection by skin penetration of the definitive host." [] synonym: "3 hour schistosomulum" EXACT [] synonym: "3 hour somule" EXACT [] synonym: "3 hr somule" EXACT [] xref: WBls:0000724 is_a: EFO:0007711 ! Platyhelminthes life stage property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007714 name: 24 hr schistosomulum def: "A tailless cercarium of Schistosoma sp, 24 hours post-infection by skin penetration of the definitive host. " [] synonym: "24 hour schistosomulum" EXACT [] synonym: "24 hour somule" EXACT [] synonym: "24 hr somule" EXACT [] xref: WBls:0000725 is_a: EFO:0007711 ! Platyhelminthes life stage property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007715 name: Platyhelminthes adult def: "he mature, fully developed life stage of Platyhelminthes, usually capable of sexual reproduction. " [] synonym: "platyhelminth adult" EXACT [] xref: WBls:0000710 is_a: EFO:0007711 ! Platyhelminthes life stage property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007716 name: carotid artery measurement def: "Quantification of some aspect of the carotid artery, eg its size, diameter or stiffness" [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 UBERON:0005396 ! is_about carotid artery segment property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007717 name: carotid artery geometry measurement def: "Quantification of some aspect of the carotid artery geometry" [] is_a: EFO:0007716 ! carotid artery measurement property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007718 name: carotid artery stiffness measurement def: "Quantification of the stiffness of the carotid artery" [] xref: PMID:26160806 is_a: EFO:0007716 ! carotid artery measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007719 name: carotid artery external diameter measurement def: "Quantification of the external diameter of the carotid artery" [] xref: PMID:26160806 is_a: EFO:0007717 ! carotid artery geometry measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007720 name: carotid artery internal diameter measurement def: "Quantification of the internal diameter of the carotid artery" [] xref: PMID:26160806 is_a: EFO:0007717 ! carotid artery geometry measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007721 name: carotid artery central pulse pressure measurement def: "Quantification of the central pulse pressure in the carotid artery" [] xref: PMID:26160806 is_a: EFO:0007716 ! carotid artery measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007722 name: carotid artery wall cross sectional area measurement def: "Quantification of the area of a cross section of the carotid artery's wall" [] xref: PMID:26160806 is_a: EFO:0007717 ! carotid artery geometry measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007723 name: carotid artery mean blood pressure measurement def: "Quantification of mean blood pressure in the carotid artery" [] xref: PMID:26160806 is_a: EFO:0007716 ! carotid artery measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007724 name: carotid artery circumferential wall stress measurement def: "Quantification of the circumferential wall stress of the carotid artery, an indicator for carotid artery stiffness" [] xref: PMID:26160806 is_a: EFO:0007716 ! carotid artery measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007725 name: embryo stage def: "A life cycle stage that starts with fertilization and ends with the fully formed embryo." [] synonym: "embryo Ce" EXACT [] synonym: "embryogenesis" EXACT [] synonym: "embryonic stage" EXACT [] xref: BilaDO:0000002 xref: EV:0300001 xref: FBDV:00005289 xref: FMA:72652 xref: HsapDv:0000002 xref: MmusDv:0000002 xref: OGES:000022 xref: SNOMEDCT:296280003 xref: UBERON:0000068 xref: WBls:0000003 xref: WBls:0000092 xref: WBls:0000102 xref: XAO:1000012 is_a: EFO:0000399 ! developmental stage property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007726 name: AKR/J def: "Originally inbred at the Rockefeller Institute, AKR mice are widely used in cancer research for their high leukemia incidence (60-90%) and in immunology as a source of the Thy1.1 (theta AKR) antigen. AKR/J mice are viremic from birth, and express the ecotropic retrovirus AKV in all tissues. The hair interior defect (hid) mutation, a strain characteristic of AKR mice, causes alterations in hair development that is only evident microscopically. Adrenocortical lipid depletion (ald) in AKR mice is caused by a mutation in sterol O-acyltransferase 1 (Soat1), and leads to a truncated SOAT1 protein. AKR/J mice are relatively resistant to aortic lesion formation on a semi-synthetic high fat diet and are hyporesponsive to diets containing high levels of fat and cholesterol." [] synonym: "AK" EXACT [] synonym: "AKR" EXACT [] is_a: NCBITaxon:10090 ! Mus musculus property_value: definition:citation https://www.jax.org/strain/000648 xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007727 name: CAST/EiJ def: "\n\nBoth CAST/EiJ and CASA/RkJ (Stock No. 000735) were derived from wild mice trapped in Thailand. CAST is often combined with the common laboratory strains to generate F1 hybrids with high levels of heterozygosity for use in genetic mapping. Unlike the wild-derived strain SPRET, male F1 mice from a CAST cross are fertile.\n\nLike CASA, CAST is resistant to flavivirus infection. The flavivirus family includes pathogens responsible for dengue, yellow fever and several forms of encephalitis. Most common laboratory mice are sensitive to flavivirus infection. Resistance/sensitivity is conferred through the oligoA synthase Oas1b locus. In a comparison of multiple strains, CASA and CAST exhibit reduced numbers of retinal ganglion cells as compared to common laboratory strains and other wild-derived strains. In a 2015 study comparing CAST/Ei and the other Collaborative Cross inbred strains (A/J, C3H/HeJ, C57BL/6J, DBA/2J, 129S1/SvImJ, NOD/LtJ, NZO/HlLtJ, and WSB/EiJ), dorsal root ganglion neurons from CAST/Ei mice demonstrate a significantly improved ability to regenerate axons in an inhibitory environment as determined by an increase in number of neurons with neurites and longer axonal process per neuron under both naive and pre-injured conditions. In addition, as compared to neurons from C57BL/6 mice, CAST/Ei neurons exhibit more extensive axonal regeneration in the spinal cord and optic nerve following injury and show greater sprouting following ischemic stroke.\n\nWild-derived mice are genetically distinct from common laboratory mice for a number of complex phenotypic characteristics and are valuable tools for genetic mapping, evolution and systematics research.\n" [] synonym: "CAST" EXACT [] is_a: NCBITaxon:10090 ! Mus musculus property_value: definition:citation https://www.jax.org/strain/000928 xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007728 name: FVB/NJ def: "FVB/NJ was inbred for the Fv1b allele which confers sensitivity to the Friend leukemia virus B strain. Due to the prominent pronuclei in their fertilized eggs and the large litter size, FVB/NJ mice are commonly used for transgenic injection. Compared to many other inbred strains, FVB/NJ is highly susceptible to asthma-like airway responsiveness with significant generation of antigen-specific IgE. Despite having the H2q MHC haplotype, FVB/NJ are resistant to collagen-induced arthritis. This resistance stems from coding polymorphisms in Tcra-V11.1 and a genomic deletion of some Tcrb-V genes that includes Tcrb-V8.2. FVB/NJ have higher than average activity, anxiety, and basal body temperature, low stress-induced hyperthermia, and are homozygous for the Pde6brd1 allele, which results in early onset retinal degeneration. Although FVB/N typically do not develop spontaneous tumors, they are highly susceptible to chemically induced squamous cell carcinomas with a high rate of malignant conversion from papilloma to carcinoma. " [] synonym: "Friend Virus B NIH Jackson" EXACT [] synonym: "FVB" EXACT [] is_a: NCBITaxon:10090 ! Mus musculus property_value: definition:citation https://www.jax.org/strain/001800 xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007729 name: NZO/HlLtJ def: "NZO mice of both sexes exhibit high birth weights and are significantly heavier at weaning age. Severe obesity (including both visceral and subcuatneous fat depots) develops even when mice are maintained on a standard diet containing 4.5% fat. Both males and females of the NZO/Hl substrain exhibit impaired glucose tolerance (IGT), but subsequent type 2 maturity onset (NIDDM) diabetes development is limited to males, with a phenotype penetrance of 50% or less. NZO/Hl mice also show anti-insulin receptor antibodies, a defect in leptin transport, and hypertension. The genetic lesion appears to be within the islets of Langerhans as transfer of pancreatic islets from normal mice returns body weights and blood glucose levels to within normal range. Ovarian granulosa cell tumors, lymphomas, duodenal, and lung tumors have also been noted to occur in NZO mice at an elevated frequency. F1 hybrids of NON/ShiLt and NZO/Hl provide a new model of obesity-induced diabetes. Male (NON/ShiLt x NZO/Hl)F1 hybrids are obese (BW = 53.5 g by 16 weeks) and almost all develop maturity onset NIDDM. F1 males on a 4% diet will develop hyperglycemia around 20 to 24 weeks of age; increasing the fat content of the diet accelerates diabetes onset to 16 to 20 weeks of age. (NZO/Hl x NON/ShiLt)F1 hybrids will develop diabetes slightly faster than their reciprocal cross due to the NZO maternal environment; however this cross is difficult to produce due to the inherently poor breeding performance of NZO/HlJ female mice. F1 females exhibit a weight gain similar to the NZO parent, and have impaired glucose tolerance but are resistant to diabetes development. Diabetes development can be accelerated to eight to 12 weeks by fostering onto an F1 dam. Reciprocal backcrosses to the parental strains and analysis of (NON/ShiLt x NZO/Hl)F2 mice has led to the identification of a number of complex diabetes-predisposing (\"diabesity\") QTLs. Dr. Leiter's research group at The Jackson Laboratory is currently developing a series of nine recombinant congenic strains (RCS) made by backcrossing the (NZO/Hl x NON/ShiLt)F1 for two generations onto the NON/ShiLt background before inbreeding (~12% NZO/Hl, 88% NON/ShiLt genomes). Preliminary analysis indicates that body weight gains of all RCS are higher than NON/ShiLt, but none are as obese as NZO/Hl; some of these RCS develop NIDDM while others are resistant. These new strains will be useful to further analyze diabesity QTLs and as new models for type 2 (NIDDM) diabetes. An additional benefit of the RCS is better breeding performance than NZO/Hl." [] synonym: "New Zealand Obese" EXACT [] is_a: NCBITaxon:10090 ! Mus musculus property_value: definition:citation https://www.jax.org/strain/002105 xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007730 name: PWK/PhJ def: "PWK was derived from wild mice trapped near Prague, Czech Republic. PWK has a biochemical profile that is similar to the inbred strain PWD (also originating from the Czech Republic - Stock No. 004660) with the exception of the isoenzyme variant esterase 13 (Es13b). Wild-derived mice are genetically distinct from common laboratory mice for a number of complex phenotypic characteristics and are valuable tools for genetic mapping, evolution and systematics research." [] is_a: NCBITaxon:10090 ! Mus musculus property_value: definition:citation https://www.jax.org/strain/003715 xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007731 name: WSB/EiJ def: "Watkins Star Line B (WSB) was derived from wild mice trapped in Eastern Shore, Maryland. WSB is characterized by a distinct and consistent white head blaze, variable ventral spotting and a slight coat dilution on the agouti background. The variation in pigment is the result of the spontaneous mutation blaze (Kitlblz).Wild-derived mice are genetically distinct from common laboratory mice for a number of complex phenotypic characteristics and are valuable tools for genetic mapping, evolution and systematics research." [] is_a: NCBITaxon:10090 ! Mus musculus property_value: definition:citation https://www.jax.org/strain/001145 xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007732 name: C57BL/6NJ def: "This is an NIH subline of C57BL/6. It was separated from C57BL/6J in 1951. 5 SNP differences have been identified that distinguish C57BL/6J from C57BL/6ByJ and C57BL/6NJ. Both C57BL/6ByJ and C57BL/6NJ type as follows: 08-015199792-M (rs3709624) is C; 11-004367508-M (rs3659787) is A; 13-041017317-M (rs3722313) is C; 15-057561875-M (rs3702158) is G; 19-049914266-M (rs3724876) is T. C57BL/6J types as follows: 08-015199792-M is T; 11-004367508-M is G; 13-041017317-M is T; 15-057561875-M is A; 19-049914266-M is G (Petkov and Wiles 2005.) This strain does not have the deletion in the Nnt gene that has been found in the C57BL/6J strain (Stock No. 000664). C57BL/6NJ mice are homozygous for Cyfip2M1N, a spontaneous mutation in the cytoplasmic FMR1 interacting protein 2 that results in an amino acid substitution of phenylalanine for serine at position 968 (S968F). The mutation is found in all C57BL/6N substrains but is not present in the C57BL/6J strain or substrains. The mutation results in 45% lower acute response to cocaine as measured by locomotor hyperactivity." [] synonym: "B6N" EXACT [] synonym: "Black 6N" EXACT [] is_a: EFO:0005181 ! C57BL property_value: definition:citation https://www.jax.org/strain/005304 xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007733 name: LP/J def: "LP/J mice display a high susceptibility to audiogenic seizures. This strain is also reported to have a fairly high incidence of tumors that develop later in life, including mammary tumors, lymphoma, lung and soft-tissue sarcomas. LP/J mice are also homozygous for the spontaneous mutation piebald in the endothelin receptor type B gene (Ednrbs). The piebald spontaneous mutation is the result of a mutation in the endothelin receptor type B gene, Ednrb. Mice show irregular white spotting, the amount of which is greatly influenced by minor modifying genes. They also have dark eyes. The white areas of the coat are completely lacking in neural crest-derived melanocytes, and there is a reduction in the number of melanocytes in the choroid layer of the eye." [] synonym: "LP" EXACT [] is_a: NCBITaxon:10090 ! Mus musculus property_value: definition:citation https://www.jax.org/strain/000676 xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007734 name: SPRET/EiJ def: "The wild-derived inbred strain SPRET/Ei is often used in crosses with common inbred strains to create highly polymorphic panels for genetic mapping. SPRET/Ei mice are resistant to high doses of tumor necrosis factor alpha (TNFa) (Staelens et al 2002). Mice from a C57BL/6 x SPRET/Ei F1 cross were protected from TNFa-induced arthritis and partially protected against induced allergic asthma (Staelens et al 2004). SPRET/Ei may be useful in understanding certain inflammatory diseases." [https://orcid.org/0000-0002-3110-8220] synonym: "SPRET/Ei" EXACT [] is_a: NCBITaxon:10096 ! Mus spretus property_value: definition:citation https://www.jax.org/strain/001146 xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007735 name: CBA/J def: "CBA/J inbred mice are widely used as a general purpose strain. CBA/J strain is the only CBA substrain that carries the Pde6brd1 mutation, which causes blindness by wean age. CBA/J mice are not histocompatible with the CBA/CaJ (Stock No. 000654) substrain (Green and Kaufer, 1965).\n\nThe CBA/J inbred mouse strain is used to study granulomatous experimental autoimmune thyroiditis (G-EAT), are relatively resistant to diet-induced atherosclerosis (Paigen et al. 1990), and develop a mild hearing loss late in life, with most of the hearing loss occurring in the higher frequencies (Sweet et al. 1988). Renal tubulointerstitial lesions have been observed in this strain at a high frequency (Rudofsky 1978). Some CBA/J mice spontaneously develop exocrine pancreatic insufficiency syndrome (Eppig and Leiter 1977, Leiter et al. 1977).\n" [] synonym: "CBA Jackson" EXACT [] is_a: NCBITaxon:10090 ! Mus musculus property_value: definition:citation https://www.jax.org/strain/000656 xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007736 name: NOD/ShiLtJ def: "Diabetes in NOD/ShiLtJ mice is characterized by insulitis, a leukocytic infiltrate of the pancreatic islets. Marked decreases in pancreatic insulin content occur in females at about 12 weeks of age and several weeks later in males. Onset of diabetes is marked by moderate glycosuria and by a non-fasting plasma glucose higher than 250 mg/dl. Diabetic mice are hypoinsulinemic and hyperglucagonemic, indicating a selective destruction of pancreatic islet beta cells. Susceptibility to IDDM in NOD/ShiLtJ mice is polygenic, and environment, including housing conditions, health status, and diet, exerts a strong effect on penetrance. NOD/ShiLtJ females are more widely used than males because the onset of IDDM symptoms occurs earlier and with a higher incidence (90-100% by 30 weeks of age). NOD/ShiLtJ males develop IDDM at a frequency of between 40-60% by 30-40 weeks of age. Male mice are useful for certain applications, including pharmaceutical studies, \"accelerated transfer\" of IDDM, and some in vitro studies. The major component of diabetes susceptibility in NOD mice is the unique MHC haplotype (H2g7 = Kd, Aad, Abg7, Enull, Db). NOD mice also exhibit multiple aberrant immunophenotypes including defective antigen presenting cell immunoregulatory functions, defects in the regulation of theT lymphocyte repertoire, defective NK cell function, defective cytokine production from macrophages (Fan et al., 2004) and impaired wound healing. They also lack hemolytic complement, C5. NOD/ShiLtJ mice also are severely hearing-impaired. A variety of mutations causing immunodeficiencies, targeted mutations in cytokine genes, as well as transgenes affecting immune functions, have been backcrossed into the NOD/ShiLt inbred strain background.\n\nDiabetes onset was monitored weekly between the ages of 3 and 30 weeks in 120 male and 120 female NOD/ShiLtJ bred in the Bar Harbor and Sacramento facilities. Mice were fed a 6% fat diet (LabDiet 5K0Q, St. Louis MO), ad libitum. Diabetes was defined by a non-fasting blood glucose level exceeding 250 mg/dL. Blood was sampled from the submandibular route and analyzed using a OneTouch Ultra 2 handheld glucometer that was validated using a control solution on each measurement day. Data were combined from three independent studies, each involving 40 males and 40 females. The median female onset was 17 weeks in each study, and the Kaplan-Meier curves from the individual studies did not differ significantly. " [] synonym: "NOD" EXACT [] synonym: "Non-obese Diabetic" EXACT [] is_a: EFO:0002547 ! NOD mouse property_value: definition:citation https://www.jax.org/strain/001976 xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007737 name: BMI-adjusted adiponectin measurement def: "Adiponection measurement that has been adjusted by subjects’ body mass index by performing linear regressions for adiponectin against BMI " [] xref: PMID:26299439 is_a: EFO:0004502 ! adiponectin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007738 name: cingulate cortex measurement def: "quantification of some aspect of the cingulate cortex, a part of the brain situated in the medial aspect of the cerebral cortex" [] is_a: EFO:0004464 ! brain measurement relationship: IAO:0000136 UBERON:0003027 ! is_about cingulate cortex property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007739 name: left superior temporal gyrus thickness measurement def: "quantification of the thickness of the grey matter in the left superior temporal gyrus" [] is_a: EFO:0004840 ! cortical thickness relationship: IAO:0000136 UBERON:0002769 ! is_about superior temporal gyrus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007740 name: S wave amplitude def: "The magnitude of the S wave, the downward deflection of the QRS complex following the R wave representing late depolarization of the ventricles as illustrated in an electrocardiograph." [] xref: CMO:0000272 is_a: EFO:0004327 ! electrocardiography relationship: IAO:0000136 UBERON:0004535 ! is_about cardiovascular system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007741 name: R wave amplitude def: "The magnitude of the R wave, which is the initial upward deflection of the QRS complex following the Q wave representing early depolarization of the ventricles as illustrated by an electrocardiograph. " [] xref: CMO:0000270 is_a: EFO:0004327 ! electrocardiography relationship: IAO:0000136 UBERON:0004535 ! is_about cardiovascular system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007742 name: QRS amplitude def: "The magnitude of the portion of the electrocardiograph comprising the Q, R, and S waves which together represent ventricular depolarization." [] xref: CMO:0000268 is_a: EFO:0004327 ! electrocardiography relationship: IAO:0000136 UBERON:0004535 ! is_about cardiovascular system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007743 name: influenza A severity measurement def: "quantification of the severity of an infection with the influenza type A virus" [] xref: PMID:26379185 is_a: EFO:0006841 ! respiratory disease biomarker is_a: EFO:0006843 ! infectious disease biomarker relationship: IAO:0000136 EFO:0007328 ! is_about influenza property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007744 name: lung disease severity measurement def: "quantification of the severity of lung disease, eg cystic fibrosis, through comparison of an individual's FEV1 score to the average age-specific percentile values of FEV1 for each patient in a study\n\n\n" [] xref: PMID:26417704 is_a: EFO:0006841 ! respiratory disease biomarker relationship: IAO:0000136 EFO:0003818 ! is_about lung disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007745 name: lactate measurement def: "quantification of lactate in a sample" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007746 name: white matter lesion progression measurement def: "quantification of the progression of lesions in white matter of the brain using magnetic resonance imaging" [] is_a: EFO:0004464 ! brain measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007747 name: postburn hypertrophic scarring severity measurement def: "quantification of the severity of hypertrophic scarring in burn patients, usually using the Vancouver Scar Scale (VSS) " [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007748 name: EH def: "Non-transformed BJ cells expressing hTERT and SV40 early region." [] synonym: "BJ-EH, BJ EH" EXACT [] is_a: EFO:0002009 ! fibroblast derived cell line relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation "https://www.atcc.org/Products/All/CRL-2522, http://www.sciencedirect.com/science/article/pii/S1535610810000693" xsd:string [Term] id: EFO:0007749 name: EL def: "Non-transformed BJ cells expressing hTERT." [] synonym: "BJ-EL, BJ EL" EXACT [] is_a: EFO:0002009 ! fibroblast derived cell line relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation "https://www.atcc.org/Products/All/CRL-2522, http://www.sciencedirect.com/science/article/pii/S1535610810000693" xsd:string [Term] id: EFO:0007750 name: ELR def: "Transformed BJ cells expressing hTERT, SV40 early region and RAS." [] synonym: "BJ-ELR, BJ ELR" EXACT [] is_a: EFO:0002009 ! fibroblast derived cell line relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation "http://mcb.asm.org/content/25/15/6464.full, https://www.atcc.org/Products/All/CRL-2522" xsd:string [Term] id: EFO:0007751 name: ES-E14TG2a.4 def: "Feeder free cell line derived from E14TG2a." [] synonym: "E14TG2a.4" EXACT [] is_a: EFO:0005738 ! ESC derived cell line relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation https://www.mmrrc.org/catalog/cellLineSDS.php?mmrrc_id=15890 xsd:string [Term] id: EFO:0007752 name: VCaP def: "Human prostate cancer cell line." [] xref: BTO:0003215 xref: CLO:0037117 xref: RRID:CVCL_2235 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002891 ! prostate derived cell line relationship: has_characteristic MONDO:0004992 ! cancer relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation https://www.atcc.org/products/all/CRL-2876.aspx#generalinformation xsd:string [Term] id: EFO:0007753 name: seasonal gut microbiome measurement def: "quantification of some aspect of the seasonal variation in the micrbiome of the gut" [] is_a: EFO:0007874 ! gut microbiome measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007754 name: response to immunochemotherapy def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an immunochemotherapy stimulus." [] is_a: GO:0097327 ! response to antineoplastic agent property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0007755 name: atopic march def: "sequential manifestations of different allergic diseases such as eczema, asthma and rhinitis. Typically, eczema is the first allergic disease in infancy, followed by asthma and/or rhinitis in childhood. " [] is_a: OGMS:0000063 ! disease course property_value: definition:citation PMID:26542096 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007756 name: Staphylococcus aureus carrier status def: "quantification of the presence or absence of Staphylococcus aureus colonies in an individual. Positive carrier status should not be equated with infection." [] is_a: EFO:0007658 ! carrier status property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007757 name: persistent Staphylococcus aureus carrier status def: "quantification of the consistent presence or absence of Staphylococcus aureus colonies in an individual at at least two separate points in time" [] is_a: EFO:0007756 ! Staphylococcus aureus carrier status property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007758 name: intermittent Staphylococcus aureus carrier status def: "quantification of the change in presence or absence of Staphylococcus aureus colonies in an individual at two different points in time, from positive to negative or negative to positve" [] is_a: EFO:0007756 ! Staphylococcus aureus carrier status property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007759 name: alpha-linolenic acid measurement def: "The determination of the amount of alpha-linolenic acid present in a sample." [] is_a: EFO:0006811 ! linolenic acid measurement relationship: IAO:0000136 CHEBI:27432 ! is_about alpha-linolenic acid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007760 name: eicosapentaenoic acid measurement def: "The determination of the amount of eicosapentaenoic acid present in a sample." [] synonym: "icosapentaenoic acid measurement" EXACT [] is_a: EFO:0005110 ! fatty acid measurement relationship: IAO:0000136 CHEBI:36006 ! is_about icosapentaenoic acid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007761 name: docosahexaenoic acid measurement def: "The determination of the amount of docosahexaenoic acid present in a sample." [] is_a: EFO:0005110 ! fatty acid measurement relationship: IAO:0000136 CHEBI:36005 ! is_about docosahexaenoic acid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007762 name: gamma-linolenic acid measurement def: "The determination of the amount of gamma-linolenic acid present in a sample." [] is_a: EFO:0006811 ! linolenic acid measurement relationship: IAO:0000136 CHEBI:28661 ! is_about gamma-linolenic acid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007763 name: dihomo-gamma-linolenic acid measurement def: "The determination of the amount of dihomo-gamma-linolenic acid present in a sample." [] is_a: EFO:0005680 ! omega-6 polyunsaturated fatty acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007764 name: delta-5 desaturase measurement def: "The determination of the amount of delta-5 desaturase in a sample, generally estimated as the ratio of arachidonic acid:diohomo-gamma-linolenic acid" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007765 name: delta-6 desaturase measurement def: "The determination of the amount of delta-5 desaturase in a sample, generally estimated as the ratio of diohomo-gamma-linolenic acid:linolenic acid" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007766 name: response to beta blocker def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a beta blocker stimulus" [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007767 name: response to calcium channel blocker def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcium channel blocker stimulus" [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007768 name: response to exercise def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of undertaking regular physical activity" [] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007769 name: thoracic-to-hip circumference ratio measurement def: "quantification of the ratio of thoracic circumference to hip circumference, used as an indicator of type 2 diabetes risk" [] is_a: EFO:0007861 ! body ratio measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007770 name: post-operative fentanyl consumption measurement def: "quantification of the amount of fentanyl, an opiate, consumed within the first 24hrs after a surgical intervention" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007771 name: pathologic complete response measurement def: "quantification of the absence of residual invasive disease in the breast and in the axillary lymph nodes at the completion of the neoadjuvant treatment" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007772 name: calcaneal bone quantitative ultrasound measurement def: "bone quantitiave ultrasound of the main bone in the heel, recognized as a non-invasive method for evaluation of bone strength and prediction of osteoporotic fracture" [] is_a: EFO:0004514 ! bone quantitative ultrasound measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007773 name: cutaneous psoriasis measurement def: "quantification of the presence or absence of psoriatic arthritis in patients with psoriasis vulgaris" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007774 name: thrombomodulin measurement def: "quantification of the amount of thrombomodulin in a sample" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007775 name: thrombin-antithrombin complex measurement def: "quantification of the amount of thrombin-antithrombin complex in a sample" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007776 name: prothrombin fragments F1+2 measurement def: "quantification of the amount of prothrombin fragments F1+2 in a sample" [] synonym: "coagulation factor II measurement" EXACT [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007777 name: base metabolic rate measurement def: "quantification of an individual's base metabolic rate, the minimum amount of energy required to sustain life while at complete rest, including the body being in a post-absorptive state (ie the digestive system is inactive). BMR differs from RMR because BMR measurements must meet total physiological equilibrium whereas RMR conditions of measurement can be altered and defined by the contextual limitations." [] synonym: "basal metabolic rate measurement" EXACT [] synonym: "BMR measurement" EXACT [] is_a: EFO:0005115 ! metabolic rate measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007778 name: urinary albumin to creatinine ratio def: "quantification of the ratio of albumin to creatinine in a urine sample" [] is_a: EFO:0005116 ! urinary metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007779 name: response to pazopanib def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus with pazopanib, a multi-targeted receptor tyrosine kinase inhibitor that blocks tumour growth and inhibits angiogenesis, used to treat renal cell carcinoma and soft tissue sarcoma" [] is_a: GO:0097327 ! response to antineoplastic agent property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0007780 name: periodontal measurement def: "quantification of some aspect of periodontitis or periodontal examinations, including acute vs chronic status, interproximal clincial attachement level and others" [] xref: PMID:27601451 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007781 name: stressful life event measurement def: "Quantification of some aspect of stressful life events, such as the presence or absence thereof, the severity of the event or their impact on general health or pre-existing conditions. Data is generally captured via questionnaires and interviews by qualified mental health care professionals." [] is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007783 name: mosaic loss of chromosome Y measurement is_a: EFO:0004554 ! genomic measurement relationship: IAO:0000136 CHEBI:16991 ! is_about deoxyribonucleic acid relationship: IAO:0000136 EFO:0004420 ! is_about genome relationship: IAO:0000136 Orphanet:68335 ! is_about Chromosomal anomaly property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007784 name: functional decline measurement def: "quantification of some aspect of muscle function deterioration such as the rate at which it occurs or its severity, for example in patients with neurodegenerative conditions such as ALS. Functional decline is ususally assessed using a combination of physical exams and structured-interview protocols covering a number of standardised areas." [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007785 name: femoral neck bone mineral density def: "mineral density of the neck of the femur, the region just below the ball of the hip joint" [] is_a: EFO:0007702 ! hip bone mineral density property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007786 name: menstrual cycle measurement def: "quantification of some aspect's of a female's menstrual cycle such as its length" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007787 name: plasma betaine measurement def: "quantification in a plasma sample of betaine, an amino acid derived from glycine. Betaine has been identified as a potential biomarker for coronary artery disease" [] synonym: "plasma glycine betaine measurement" EXACT [] synonym: "plasma N,N,N-Trimethylglycine measurement" EXACT [] synonym: "plasma trimethylaminoacetate measurement" EXACT [] synonym: "plasma trimethylammonioacetate measurement" EXACT [] is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 EFO:0001645 ! is_about coronary artery disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007788 name: BMI-adjusted waist-hip ratio def: "waist-hip ratio that has been adjusted by subjects’ body mass index" [] xref: PMID:26785701 is_a: EFO:0004343 ! waist-hip ratio property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007789 name: BMI-adjusted waist circumference def: "waist circumference measurement that has been adjusted by subjects’ body mass index" [] xref: PMID:26785701 is_a: EFO:0004342 ! waist circumference property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007790 name: Epstein Barr virus nuclear antigen 1 IgG measurement def: "measurement of the IgG antibody isotype produced by plasma cells in response to an Epstein Barr virus infection, specifically to the Epstein–Barr virus nuclear antigen 1" [] synonym: "EBNA1 IgG measurement" EXACT [] is_a: EFO:0004565 ! serum IgG measurement is_a: EFO:0006843 ! infectious disease biomarker relationship: IAO:0000136 EFO:0000769 ! is_about Epstein-Barr virus infection property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007791 name: rheumatoid factor seropositivity measurement def: "rheumatoid factor seropositivity is the result of a measurement of circulating autoantibodies called rheumatoid factors that contribute to a number of autoimmune diseases including rheumatoid arthritis" [] is_a: EFO:0007034 ! seropositivity measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007792 name: antipsychotic drug use measurement def: "quantification of some aspect of antipsychotic drug use such as drug dosage" [] is_a: EFO:0007010 ! drug use measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007793 name: BMI-adjusted leptin measurement def: "leptin measurement that has been adjusted for subjects' body mass index " [] xref: PMID:26833098 is_a: EFO:0005000 ! leptin measurement relationship: IAO:0000136 EFO:0003199 ! is_about leptin property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007794 name: nicotine metabolite ratio def: "quantification of the ratio of 3’-trans-hydroxycotinine to cotinine in a sample, typically in a urine or blood sample" [] xref: PMID:26921259 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 CHEBI:18723 ! is_about nicotine property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007795 name: anxiety disorder measurement def: "quantification of some aspect of anxiety disorder such as its presence or absence in an individual or its severity" [] is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0006788 ! is_about anxiety disorder property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007796 name: parental longevity def: "length of an individual's parents' life, either taken individually (paternal or maternal longevity) or in combination and sometimes used as an indicator of an individual longevity" [] is_a: EFO:0004300 ! longevity property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007797 name: language measurement def: "quantification of some aspect of language or language development" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007798 name: linguistic error measurement def: "quantification of an individual's linguistic error rate, generally through the administration of standardised tests or the analysis of language samples by a specialist" [] is_a: EFO:0006848 ! mental or behavioural disorder biomarker is_a: EFO:0007797 ! language measurement relationship: IAO:0000136 EFO:0005425 ! is_about language impairment property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007799 name: syntactic complexity measurement def: "quantification of an individual's ability to form syntactically complex language constructs, generally through the administration of standardised tests or the analysis of language samples by a specialist" [] is_a: EFO:0006848 ! mental or behavioural disorder biomarker is_a: EFO:0007797 ! language measurement relationship: IAO:0000136 EFO:0005425 ! is_about language impairment property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007800 name: body fat percentage def: "Quantification of the amount of body fat as a percentage of total body mass, calculated as either total mass of fat divided by total body mass or one of a number of more complex weighted equations. Body fat includes essential body fat and storage body fat. " [] is_a: EFO:0005106 ! body composition measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007801 name: lycopene measurement def: "quantification in a sample (eg blood) of lycopene, a bright red carotene and carotenoid pigment and phytochemical found in tomatoes and other red fruits and vegetables, such as red carrots, watermelons and papayas" [] is_a: EFO:0004737 ! carotenoid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007802 name: obsessive-compulsive symptom measurement def: "quantification of some aspect of obsessive-compulsive symptoms, such as their existence and severity, usually via a standardised questionnaire or interview with a qualified mental health professional" [] is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0004242 ! is_about obsessive-compulsive disorder property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007803 name: emotional symptom measurement def: "quantification of some aspect of emotional problem symptoms, such as their existence and severity, usually via a standardised questionnaire such as the emotional symptoms subscale of the Strengths and Difficulties Questionnaire or interview with a qualified mental health professional" [] is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007804 name: LDL cholesterol change measurement def: "quantification of the change in LDL cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" [] is_a: EFO:0004611 ! low density lipoprotein cholesterol measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007805 name: HDL cholesterol change measurement def: "quantification of the change in HDL cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" [] is_a: EFO:0004612 ! high density lipoprotein cholesterol measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007806 name: total cholesterol change measurement def: "quantification of the change in total cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" [] is_a: EFO:0004574 ! total cholesterol measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007807 name: erythrocyte cadmium measurement def: "Quantification of the amount of cadmium present in erythrocytes. Cadmium in erythrocytes is a valid biomarker of exposure and body burden of cadmium, a non-essential toxic metal with multiple adverse health effects" [] xref: PMID:27005419 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 CHEBI:22977 ! is_about cadmium atom property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007808 name: response to bortezomib def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a bortezomib stimulus. Bortezomib is a therapeutic proteasome inhibitor approved for treating relapsed multiple myeloma and mantle cell lymphoma." [] is_a: GO:0097327 ! response to antineoplastic agent property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007809 name: response to flupirtine def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a flupirtine stimulus. Flupirtine is an aminopyridine that functions as a centrally acting non-opioid analgesic that was originally used as an analgesic for acute and chronic pain but due to issues with liver toxicity, the European Medicines Agency restricted its use to acute pain, for no more than two weeks, and only for people who cannot use other painkillers" [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007810 name: Plasmodium falciparum antigen IgG1 measurement def: "measurement of the IgG1 antibody isotype produced by plasma cells in response to a Plasmodium falciparum infection" [] is_a: EFO:0007812 ! Plasmodium falciparum antigen IgG measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007811 name: Plasmodium falciparum antigen IgG3 measurement def: "measurement of the IgG3 antibody isotype produced by plasma cells in response to a Plasmodium falciparum infection" [] is_a: EFO:0007812 ! Plasmodium falciparum antigen IgG measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007812 name: Plasmodium falciparum antigen IgG measurement def: "measurement of the IgG antibody isotype produced by plasma cells in response to a Plasmodium falciparum infection" [] is_a: EFO:0004565 ! serum IgG measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007813 name: cotinine measurement def: "quantification of cotinine in a sample" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007814 name: refractive error measurement def: "quantification of some aspect of refractive errors, which occur when the shape of the eye prevents light from focusing directly on the retina. The length of the eyeball (longer or shorter), changes in the shape of the cornea, or aging of the lens can cause refractive errors. Quantification of an individual's refractive error allows the establishemnt of a number of corrective parameters such as spherical equivalent, lens decentration and transposition" [] is_a: EFO:0004731 ! eye measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 MONDO:0004892 ! is_about refractive error property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007815 name: response to dabrafenib def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a dabrafenib stimulus." [] is_a: GO:0097327 ! response to antineoplastic agent property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007816 name: response to trametinib def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a trametinib stimulus." [] is_a: GO:0097327 ! response to antineoplastic agent property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007817 name: sleep apnea measurement def: "quantification of some aspect of obstructive sleep apnea, such as oxygen desaturation levels during an apnea event or severity, duration or frequency of apnea events" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007818 name: athletic endurance measurement def: "quantification of some aspect of athletic endurance " [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007819 name: advanced glycation end-product measurement def: "quantification in a sample of advanced glycation end-products (AGEs), a diverse group of molecules produced by the non-enzymatic addition of glucose to proteins, lipids, and nucleic acids, possibly associated with hyperglycemia and diabetic complications" [] synonym: "AGE measurement" EXACT [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007820 name: cognitive behavioural therapy def: "CBT is a psychosocial intervention that is the most widely used evidence-based practice for treating mental disorders. Guided by empirical research, CBT focuses on the development of personal coping strategies that target solving current problems and changing unhelpful patterns in cognitions (e.g., thoughts, beliefs, and attitudes), behaviors, and emotional regulation. It was originally designed to treat depression, and is now used for a number of mental health conditions." [] synonym: "CBT" EXACT [] xref: Wikipedia:Cognitive_behavioral_therapy is_a: EFO:0000727 ! treatment property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007821 name: hair morphology measurement def: "quantification of some aspect of hair morphology such as hair density, colour, thickness or growth pattern" [] xref: PMID:26926045 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:0005038 ! is_about hair morphology property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007822 name: hair colour measurement def: "quantification of some aspect of hair colour, such as whether greying occurs, how advanced greying is or qualification to what colour family hair belongs" [] xref: PMID:26926045 is_a: EFO:0007821 ! hair morphology measurement relationship: IAO:0000136 EFO:0003924 ! is_about hair color property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007823 name: facial hair thickness measurement def: "quantification of the thickness or density of facial air, including beards and eyebrows" [] xref: PMID:26926045 is_a: EFO:0007821 ! hair morphology measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007824 name: hair shape measurement def: "quantification of some aspect of hair shape, eg whether it is curly or straight" [] xref: PMID:26926045 is_a: EFO:0007821 ! hair morphology measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007825 name: balding measurement def: "quantification of the amount of balding in an individual" [] xref: PMID:26926045 is_a: EFO:0007821 ! hair morphology measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007826 name: aggressive behaviour measurement def: "quantification of some aspect of aggressive behaviour" [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:0003015 ! is_about aggressive behavior property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007827 name: nighttime rest measurement def: "quantification of some aspect of nighttime rest such as duration or quality" [] xref: PMID:27126917 is_a: EFO:0004870 ! sleep measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007828 name: daytime rest measurement def: "quantification of some aspect of daytime rest such as duration, frequency or quality" [] xref: PMID:27126917 is_a: EFO:0004870 ! sleep measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007829 name: eating behaviour def: "Behaviors associated with the ingesting of food; includes rhythmic patterns of eating (time intervals - onset and duration), frequency and satiety as well as the types of food chosen" [] is_a: GO:0007610 ! behavior property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007830 name: food addiction measurement def: "quantification of some aspect of food addiction such as presence or absence or severity of symptoms, usually assessed through a standarised questionnaire or structured interview with a mental health professional" [] is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0005203 ! is_about eating disorder relationship: IAO:0000136 EFO:0007829 ! is_about eating behaviour property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007831 name: single cell specimen def: "a sample specimen consisting of exactly 1 cell" [] comment: Axiom to be added - single cell specimen is_a (cell specimen and (has_part exactly 1 cell)) is_a: OBI:0001468 ! cell specimen property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007832 name: single cell sequencing def: "Single cell sequencing examines the sequence information from individual cells with optimized next generation sequencing (NGS) technologies, providing a higher resolution of cellular differences and a better understanding of the function of an individual cell in the context of its microenvironment." [] xref: Wikipedia:Single_cell_sequencing is_a: EFO:0003740 ! assay by sequencer intersection_of: EFO:0003740 ! assay by sequencer intersection_of: OBI:0000293 EFO:0007831 ! has_input single cell specimen relationship: has_part EFO:0010183 ! single cell library construction property_value: definition:citation http://www.nature.com/nrg/journal/v14/n9/full/nrg3542.html xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007833 name: C3H/HeOuJ def: "C3H/HeOuJ mice are used as a general purpose strain in a wide variety of research areas including cancer and sensorineural, research. C3H/HeOuJ mice and all other C3H substrains at The Jackson Laboratory are homozygous for the retinal degeneration 1 mutation (Pde6brd1), causing blindness by weaning age. There is also a high incidence of hepatomas in C3H mice. This strain does not carry mouse mammary tumor virus (MMTV), but virgin and breeding females may still develop some mammary tumors later in life. " [] synonym: "C3H Outzen" EXACT [] synonym: "C3Ou" EXACT [] xref: JAX:000635 is_a: NCBITaxon:10090 ! Mus musculus property_value: definition:citation https://www.jax.org/strain/000635 xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007834 name: liver dysplastic nodule def: "A premalignant neoplastic nodular lesion of the liver that usually measures less than 15 mm. It is found during microscopic examination of liver tissues, usually in cirrhotic livers. Based on the degree of atypia, it is classified as low or high grade. " [] synonym: "DN" EXACT [] synonym: "Dysplastic Nodule of Liver" EXACT [] synonym: "Dysplastic Nodule of the Liver" EXACT [] synonym: "Hepatic DN" EXACT [] synonym: "Hepatic Dysplastic Nodule" EXACT [] xref: NCIt:C7656 is_a: EFO:1001513 ! liver neoplasm property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007835 name: alcohol dependence measurement def: "quantification of some aspect of alcohol dependence or misuse, eg using a cummulative symptom score to determine the severity of a case of alcohol dependence" [] synonym: "alcohol misuse measurement" EXACT [] xref: PMID:27151647 is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 MONDO:0007079 ! is_about alcohol dependence property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007836 name: coenzyme Q10 measurement def: "quantification in a sample of the amount of coenzyme Q10, a lipophilic redox molecule that is present in membranes of almost all cells in human tissues, is essential for the respiratory transport chain and is a modulator of inflammatory processes and gene expression" [] synonym: "CoQ10 measurement" EXACT [] xref: PMID:27149984 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007837 name: anti-citrullinated protein antibody seropositivity def: "anti-citrullinated protein antibody seropositivity is the result of a measurement of circulating anti-cyclic citrullinated peptide antibodies" [] is_a: EFO:0007034 ! seropositivity measurement relationship: IAO:0000136 EFO:0004733 ! is_about anti-cyclic citrullinated peptide antibody measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007838 name: response to anti-thyroid drug def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus with an anti-thyroid drug, used to treat hyperthyroidism by reducing the excessive production of thyroid hormones." [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007839 name: CAROLI/EiJ def: "CAROLI was derived from wild mice trapped in Thailand and is from the species Mus caroli, which is distantly related to laboratory mice and does not breed with laboratory mice. These mice are characterized by black feet. This wild derived mouse strain is genetically distinct from common laboratory mice for a number of complex phenotypic characteristics and is a valuable tool for sequence comparison, evolution and systematics research. " [https://orcid.org/0000-0002-3110-8220] xref: JAX:000926 is_a: NCBITaxon:10089 ! Mus caroli property_value: definition:citation https://www.jax.org/strain/000926 xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0007840 name: pesticide exposure measurement def: "quantification of some aspect of pesticide exposure such as frequency, duration or severity" [] is_a: EFO:0008360 ! environmental exposure measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007841 name: facial morphology measurement def: "quantification of some aspect of facial morphology such as lip thickness, forehead height or chin protrusion" [] xref: PMID:27193062 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:0004743 ! is_about facial morphology property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007842 name: chin morphology measurement def: "quantification of some aspect of chin morphology such as chin shape or chin protrusion" [] xref: PMID:27193062 is_a: EFO:0010948 ! lower face morphology measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007843 name: nose morphology measurement def: "quantification of some aspect of nose morphology such as nose wing breadth, nose tip shape or nose profile" [] xref: PMID:27193062 is_a: EFO:0007841 ! facial morphology measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007844 name: forehead morphology measurement def: "quantification of some aspect of forehead morphology such as forehead profile, forehead height or brow-ridge protrusion" [] xref: PMID:27193062 is_a: EFO:0010949 ! upper face morphology measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007845 name: lip morphology measurement def: "quantification of some aspect of lip morphology such as upper lip or lower lip thickness or lip curvature" [] xref: PMID:27193062 is_a: EFO:0010948 ! lower face morphology measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007847 name: cheekbone morphology measurement def: "quantification of some aspect of cheekbone morphology such as cheekbone protrusion" [] xref: PMID:27193062 is_a: EFO:0007841 ! facial morphology measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007848 name: apolipoprotein A-IV measurement def: "quantification of serum lipoprotein A-IV. Apolipoprotein A-IV, encoded in humans by the APOA4 gene, a 376-residue mature O-linked glycoprotein." [] synonym: "lipoprotein A-IV levels" EXACT [] is_a: EFO:0004732 ! lipoprotein measurement relationship: IAO:0000136 EFO:0003836 ! is_about lipoprotein property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007849 name: functional brain measurement def: "quantification of brain function, usually via functional magnetic resonance imaging (MRI), for example using blood-oxygen-level dependent contrast imaging (BOLD), often measured in response to a stimulus such as performing a task or exposure to images, sounds or smells" [] synonym: "brain activation measurement" EXACT [] is_a: EFO:0004346 ! neuroimaging measurement is_a: EFO:0004464 ! brain measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007850 name: solar lentigines measurement def: "quantification of the amount or severity of solar lentigines, flat tan to brown spots sometimes called liver spots, on an individual's skin. Lentigines are associated with skin aging and sun exposure" [] is_a: EFO:0007009 ! skin pigmentation measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007851 name: seroconversion def: "Seroconversion is the process during which a specific antibody develops and becomes detectable in the blood. During infection or immunisation, antigenes enter the blood and the immune system begins to produce antibodies in response. Before seroconversion, the antigen itself may or may not be detectable but the antibody is, by definition, absent. During seroconversion, the antibody is present but not yet detectable. After seroconversion has occurred, the antibodies can be detected, indicating prior or current infection." [] xref: Wikipedia:Seroconversion is_a: GO:0008150 ! biological_process property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007852 name: thiopurine methyltransferase activity measurement def: "quantification of the activity of the enzyme thiopurine methyltransferase in a sample" [] is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 OBI:0000427 ! is_about enzyme property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007853 name: response to mercaptopurine def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with mercaptopurine" [] is_a: EFO:0006317 ! response to thiopurine property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007854 name: knee peak torque measurement def: "quantification of peak torque values of the knee flexor muscles" [] is_a: EFO:0004302 ! anthropometric measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007855 name: facial width measurement def: "quantification of some aspect of facial width, such a the cranial base width" [] xref: PMID:27560520 is_a: EFO:0007841 ! facial morphology measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007856 name: facial height measurement def: "quantification of some aspect of facial height, such a the height of the entire face or the height of the upper half of the face" [] xref: PMID:27560520 is_a: EFO:0007841 ! facial morphology measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007857 name: facial depth measurement def: "quantification of some aspect of facial depth, such as the distance from the tip of the nose to the tip of the ear lobe" [] xref: PMID:27560520 is_a: EFO:0007841 ! facial morphology measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007858 name: eye morphology measurement def: "quantification of some aspect of eye morphology, such as the width of the eye socket" [] xref: PMID:27560520 is_a: EFO:0004731 ! eye measurement is_a: EFO:0010949 ! upper face morphology measurement relationship: IAO:0000136 UBERON:0000970 ! is_about eye property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007859 name: response to interferon def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of any interferon stimulus" [] is_a: GO:0034097 ! response to cytokine property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007860 name: ADHD symptom measurement def: "quantification of some aspect of ADHD symptoms such as presence/absence or severity, usually through administration of standardised questionnaires or evaluation by a qualified professional" [] xref: PMID:27663945 is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0003888 ! is_about attention deficit hyperactivity disorder property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007861 name: body ratio measurement def: "quantification of the ratio between two body measures, eg waist-hip ratio" [] is_a: EFO:0004324 ! body weights and measures property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007862 name: reproductive behaviour measurement def: "quantification of some aspect of reproductive behaviour such as age at first birth or number of children" [] xref: PMID:27798627 is_a: EFO:0001444 ! measurement property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007863 name: illness severity status def: "quantification of the severity of a patient's illness, eg critical or mild" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007864 name: sulfate measurement def: "Quantification of the amount of sulfate, an inorganic polyatomic anion, in a sample. Sulfate is critical in many organisms in the biotransformation of multiple compounds via sulfotransferase-mediated sulfate conjugation (sulfation)." [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007865 name: loneliness measurement def: "Quantification of some aspect of loneliness, such as severity or presence/absence, generally through administration of a standardised questionnaire such as the 3-Item Leave Behind Questionnaire (LBQ)." [] is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007866 name: response to rifampicin def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus with rifampicin, an antibiotic used to fight several types of bacterial infections, including tuberculosis, leprosy and Legionnaire's disease" [] is_a: GO:0046677 ! response to antibiotic relationship: IAO:0000136 CHEBI:28077 ! is_about rifampicin property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007867 name: response to gefitinib def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a gefitinib stimulus." [] is_a: GO:0097327 ! response to antineoplastic agent relationship: IAO:0000136 CHEBI:49668 ! is_about gefitinib property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007868 name: response to erlotinib def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an erlotinib stimulus." [] is_a: GO:0097327 ! response to antineoplastic agent relationship: IAO:0000136 CHEBI:114785 ! is_about erlotinib property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007869 name: wellbeing measurement def: "quantification of some aspect of wellbeing such as life satisfaction or emotional wellbeing, usually self-reported and quantified through the use of a structured questionnaire" [] xref: PMID:27089181 is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007870 name: response to norepinephrine-dopamine reuptake inhibitor def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a norepinephrine-dopamine reuptake inhibitor stimulus. Norepinephrine–dopamine reuptake inhibitors (NDRI) are a class of drugs that act as a reuptake inhibitor for the neurotransmitters norepinephrine and dopamine by blocking the action of the norepinephrine transporter (NET) and the dopamine transporter (DAT), respectively. This in turn leads to increased extracellular concentrations of both norepinephrine and dopamine and, therefore, an increase in adrenergic and dopaminergic neurotransmission." [] is_a: GO:0036276 ! response to antidepressant property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007871 name: response to escitalopram def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a escitalopram stimulus. Escitalopram is the (S)-stereoisomer (Left-enantiomer) of the earlier Lundbeck drug citalopram, hence the name escitalopram. Whether escitalopram exhibits superior therapeutic properties to citalopram or merely represents an example of \"evergreening\" is controversial." [] is_a: EFO:0005658 ! response to selective serotonin reuptake inhibitor property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007872 name: caffeine metabolite measurement def: "quantification of caffeine (1,3,7 trimethylxanthine) or any metabolite derived from caffeine, including paraxanthine (1,7 dimethylxanthine), theophylline (1,3 dimethylxanthine), and theobromine (3,7 dimethylxanthine) in a sample" [] xref: PMID:27702941 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:27732 ! is_about caffeine property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007873 name: cartilage thickness measurement def: "Quantification of the thickness of cartilage in a joint, most commonly the hip joint, for example using minimal joint space width (mJSW) as a proxy measure. Cartilage thickness is an indicator of joint health, which makes it a suitable biomarker for osteoarthritis." [] xref: PMID:27701424 is_a: EFO:0005890 ! osteoarthritis biomarker measurement relationship: IAO:0000136 EFO:0000949 ! is_about cartilage property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007874 name: gut microbiome measurement def: "quantification of some aspect of an individual's micrbiome of the gut" [] is_a: EFO:0007882 ! microbiome measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007875 name: excessive daytime sleepiness measurement def: "quantification of excessive daytime sleepiness such as how often it occurs and its severity" [] is_a: EFO:0004870 ! sleep measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007876 name: insomnia measurement def: "quantification of insomnia such as how often it occurs and its severity" [] is_a: EFO:0004870 ! sleep measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007877 name: risky sexual behaviour measurement def: "quantification of some aspect of risky sexual behaviour such as frequency of unprotected sexual intercourse and number of sexual partners within a given time frame" [] xref: PMID:27531626 is_a: EFO:0006946 ! behavioural disinhibition measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007878 name: alcohol consumption measurement def: "quantification of some aspect of alcohol consumption such as frequency or quantity" [] xref: PMID:26081443 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:0004329 ! is_about alcohol drinking property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007879 name: petaloid toenail def: "physical trait of the small toe, where a minuscule \"sixth toenail\" is present in the outer corner of the nail situated on the smallest toe" [] synonym: "accessory nail of the fifth toe" EXACT [] xref: Wikipedia:Accessory_nail_of_the_fifth_toe is_a: HP:0008388 ! Abnormal toenail morphology property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007880 name: response to dendritic cell-based immunotherapy def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vaccination treatment with dendritic cell-based immunotherapy. Dendritic cells (DCs) play a crucial role in the induction of antigen-specific T-cell responses, and their use for the active immunotherapy of malignancies and HIV is showing promising results." [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007881 name: job-related exhaustion measurement def: "quantification of some aspect of job-related exhaustion such as severity or duration" [] xref: PMID:27748236 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007882 name: microbiome measurement def: "quantification of some aspect of an individual's microbiome" [] is_a: EFO:0004557 ! population measurement relationship: IAO:0000136 EFO:0004982 ! is_about microbiome property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007883 name: taxonomic microbiome measurement def: "quantification of the taxonomic variation in a microbiome sample" [] is_a: EFO:0007882 ! microbiome measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007884 name: functional microbiome measurement def: "quantification of the functional variation in a microbiome" [] is_a: EFO:0007882 ! microbiome measurement property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007885 name: JT interval def: "measurement of the repolarisation phase of the heart's electrical cycle, defined as the difference between the duration of the QT interval and duration of the QRS interval" [] xref: PMID:27958378 is_a: EFO:0004327 ! electrocardiography property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007886 name: DDT metabolite measurement def: "quantification in a sample of the organochlorine pesticide dichlorodiphenyltrichloroethane (DDT) or any metabolite derived from DDT, eg 2, 2-bis (4-chlorophenyl)-1, 1-dichloroethene (p,p′-DDE)" [] xref: PMID:27839851 is_a: EFO:0004725 ! metabolite measurement is_a: EFO:0007960 ! organochlorine pesticide measurement relationship: IAO:0000136 CHEBI:25705 ! is_about organochlorine insecticide property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007887 name: autosomal dominant compelling helio-ophthalmic outburst syndrome def: "condition that causes variable difficulty to control sneezing in response to numerous stimuli, such as looking at bright lights or periocular (surrounding the eyeball) injection" [] synonym: "Peroutka sneeze" EXACT [] synonym: "photic sneeze reflex" EXACT [] xref: MeSH:C535300 xref: Wikipedia:Photic_sneeze_reflex is_a: HP:0025095 ! Sneeze property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007888 name: age at voice drop def: "The age of onset of (human) voice drop, the deepening of the voice of adolescents as they reach puberty" [] is_a: EFO:0000246 ! age property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007889 name: dysmenorrheic pain measurement def: "quantification of some aspect of dysmenorrheic pain (menstrual cramps), such as their severity or duration" [] xref: PMID:27454463 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007890 name: pericardial adipose tissue measurement def: "quantification of adipose tissue located around the heart" [] is_a: EFO:0004764 ! adipose tissue measurement relationship: IAO:0000136 UBERON:0035814 ! is_about pericardial fat property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007891 name: skin barrier function measurement def: "quantification of epidermal permeability barrier status, for example using transepidermal water loss, the passive diffusion of water from the hydrated layers of the dermis and epidermis towards those layers with a lower water content" [] xref: PMID:28011148 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007892 name: donor genotype effect measurement def: "quantification of the effect of the donor genotype on the success of an organ or tissue transplant" [] xref: PMID:27595289 is_a: EFO:0007958 ! genotype effect measurement relationship: IAO:0000136 EFO:0000513 ! is_about genotype property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007893 name: alpha-carotene measurement def: "quantification in a sample (eg blood) of alpha-carotene, the second most common form of carotene, with a β-ionone ring at one end and an α-ionone ring at the opposite end" [] is_a: EFO:0004737 ! carotenoid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007894 name: beta-carotene measurement def: "quantification in a sample (eg blood) of beta-carotene, an organic, strongly colored red-orange pigment abundant in plants and fruits. Among the carotenes, β-carotene is distinguished by having beta-rings at both ends of the molecule. β-Carotene is biosynthesized from geranylgeranyl pyrophosphate." [] is_a: EFO:0004737 ! carotenoid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007895 name: lutein measurement def: "quantification in a sample (eg blood) of lutein, a xanthophyll and one of 600 known naturally occurring carotenoids. Lutein is synthesized only by plants and like other xanthophylls is found in high quantities in green leafy vegetables such as spinach, kale and yellow carrots." [] is_a: EFO:0004737 ! carotenoid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007896 name: zeaxanthin measurement def: "quantification in a sample (eg blood) of zeaxanthin, one of the most common carotenoid alcohols found in nature and the pigment that gives paprika, corn, saffron, wolfberries, and many other plants and microbes their characteristic color" [] is_a: EFO:0004737 ! carotenoid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007897 name: cryptoxanthin measurement def: "quantification in a sample (eg blood) of cryptoxanthin, a carotenoid closely related in terms of structure to beta-carotene and that has been isolated from a variety of sources including the petals and flowers of plants in the genus Physalis, orange rind, papaya, egg yolk, butter, apples, and bovine blood serum" [] is_a: EFO:0004737 ! carotenoid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007898 name: alpha-tocopherol measurement def: "quantification in a sample of alpha-tocopherol, a form of vitamin E that is preferentially absorbed and accumulated in humans" [] is_a: EFO:0004738 ! tocopherol measurement relationship: IAO:0000136 CHEBI:22470 ! is_about alpha-tocopherol property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007899 name: gamma-tocopherol measurement def: "quantification in a sample of gamma-tocopherol" [] is_a: EFO:0004738 ! tocopherol measurement relationship: IAO:0000136 CHEBI:18185 ! is_about gamma-tocopherol property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007900 name: retinol measurement def: "quantification in a sample (eg blood) of retinol, a vitamin A retinoid synthesized from the breakdown of β-carotene" [] synonym: "vitamin A1 measurement" EXACT [] is_a: EFO:0004857 ! vitamin A measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007901 name: hepcidin:ferritin ratio def: "quantification of the ratio of hepcidin to ferritin in a sample" [] is_a: EFO:0004461 ! iron biomarker measurement relationship: IAO:0000136 HP:0011031 ! is_about Abnormality of iron homeostasis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007902 name: hepcidin:transferrin saturation ratio def: "quantification of the ratio of hepcidin to transferrin saturation, the amount of iron bound to transferrin, in a sample" [] is_a: EFO:0004461 ! iron biomarker measurement relationship: IAO:0000136 HP:0011031 ! is_about Abnormality of iron homeostasis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007903 name: magnesium:calcium ratio def: "quantification of the ratio of magnesium to calcium in a sample, typically a urine sample, a proxy measure for the differential handling by the renal tubule and excretion of Ca2+ and Mg2+" [] is_a: EFO:0004838 ! calcium measurement relationship: IAO:0000136 CHEBI:22984 ! is_about calcium atom relationship: IAO:0000136 CHEBI:25107 ! is_about magnesium atom property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007904 name: susceptibility to childhood ear infection measurement def: "quantification of an individual's susceptibility to childhood ear infections, generally as a count of number of infections suffered or a binary scale of presence or absence of childhood ear infections" [] is_a: EFO:0008422 ! susceptibility to infectious disease measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007905 name: joint hypermobility measurement def: "quantification of the severity of joint hypermobility, for example using the Beighton score, a score ranging from 0 to 9 based on 9 different measurements regarding the hypermobility of finger, knee, elbow, thumb and hip hypermobility" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007906 name: synophrys measurement def: "quantification of some aspect of unibrows, such as their presence or absence, or their severity" [] synonym: "monobrow measurement" EXACT [] synonym: "unibrow measurement" EXACT [] is_a: EFO:0007821 ! hair morphology measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007907 name: methadone dose measurement def: "quantification of some aspect of methadone dosage" [] xref: PMID:28115739 is_a: EFO:0007010 ! drug use measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007908 name: traffic air pollution measurement def: "quantification of some aspect of air pollution through traffic, such as annual average NO2 exposure estimates derived using land use regression modeling" [] xref: PMID:27901618 is_a: EFO:0008360 ! environmental exposure measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007909 name: CHGA cleavage product measurement def: "quantification of the amount of chromogranin A cleavage product in a sample" [] synonym: "chromogranin A cleavage product measurement" EXACT [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007910 name: CHGB cleavage product measurement def: "quantification of the amount of chromogranin B cleavage product in a sample" [] synonym: "chromogranin B cleavage product measurement" EXACT [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007911 name: personality trait measurement def: "quantification of some aspect of personality traits, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:0004365 ! is_about personality trait property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007912 name: conscientiousness measurement def: "quantification of conscientiousness, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" [] xref: PMID:27918536 is_a: EFO:0007911 ! personality trait measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007913 name: extraversion measurement def: "quantification of extraversion, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" [] xref: PMID:27918536 is_a: EFO:0007911 ! personality trait measurement relationship: IAO:0000136 EFO:0004317 ! is_about extraversion property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007914 name: openness measurement def: "quantification of openness, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" [] xref: PMID:27918536 is_a: EFO:0007911 ! personality trait measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007915 name: agreeableness measurement def: "quantification of agreeableness, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" [] xref: PMID:27918536 is_a: EFO:0007911 ! personality trait measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007916 name: response to tricyclic antidepressant def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tricyclic antidepressant stimulus" [] is_a: GO:0036276 ! response to antidepressant property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007917 name: response to tetracyclic antidepressant def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tetracyclic antidepressant stimulus" [] is_a: GO:0036276 ! response to antidepressant property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007918 name: response to anti-tuberculosis drug def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an anti-tuberculosis drug stimulus" [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007919 name: response to diclofenac def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a diclofenac stimulus" [] is_a: EFO:0005533 ! response to non-steroidal anti-inflammatory property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007920 name: response to fluoroquinolones def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a fluoroquinolone stimulus. Fluoroquinolones are broad-spectrum antibiotics (effective for both gram-negative and gram-positive bacteria) that play an important role in treatment of serious bacterial infections, especially hospital-acquired infections and others in which resistance to older antibacterial classes is suspected." [] is_a: GO:0046677 ! response to antibiotic property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007921 name: response to nitrofurantoin def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrofurantoin stimulus. Nitrofurantoin is an antibiotic used to treat bladder infections." [] is_a: GO:0046677 ! response to antibiotic property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007922 name: response to sulfonylurea def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a sulfonyurea stimulus. Sulfonylureas are a class of organic compounds used in medicine and agriculture. They are antidiabetic drugs widely used in the management of diabetes mellitus type." [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007923 name: response to terbinafine def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a terbinafine stimulus. Terbinafine is an antifungal medication used to treat ringworm, pityriasis versicolor, and fungal nail infections." [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007924 name: tonsillectomy risk measurement def: "Quantification an individual's risk of undergoing tonsillectomy. Some individuals experience recurrent, severe tonsillitis and massive hypertrophy of the tonsils in which case surgical removal of the tonsils may be considered. There are a number of genetic variants that may reduce the risk of tonsillectomy by conferring a protective effect." [] xref: PMID:27182965 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007925 name: response to paliperidone def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a paliperidone stimulus. Paliperidone, also known as 9-hydroxyrisperidone, is a dopamine antagonist and 5-HT2A antagonist of the atypical antipsychotic class of medications." [] is_a: GO:0097332 ! response to antipsychotic drug property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0007926 name: hyper-inflammatory immune response def: "extreme pathological inflammatory response of an organism to an infection, for example seen in certain types of leprosy" [] is_a: GO:0006954 ! inflammatory response property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007927 name: schizophrenia symptom severity measurement def: "quantification of the severity of schizophrenia symptoms, for example as a result of treatment. Schizophrenia symptom severity can be evaluated via a range of measures, including the the Positive and Negative Syndrome Scale (PANSS), a medical scale used for measuring symptom severity of patients with schizophrenia, the PANSS sub-component PANSS positive Marder factor score and PANSS negative Marder factor score and the Clinical Global Impression – Severity scale (CGI-S), a 7-point scale that requires the clinician to rate the severity of the patient's illness at the time of assessment, relative to the clinician's past experience with patients who have the same diagnosis." [] xref: PMID:27846195 is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 MONDO:0005090 ! is_about schizophrenia property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007928 name: ventricular rate measurement def: "quantification in an electrocardiogram of the number of QRS complexes per minute" [] is_a: EFO:0004326 ! heart rate relationship: IAO:0000136 EFO:0005054 ! is_about QRS complex property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007929 name: triglyceride:HDL cholesterol ratio def: "quantification of the ratio of triglyceride to HDL cholesterol in a sample" [] xref: PMID:28046027 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0004732 ! lipoprotein measurement relationship: IAO:0000136 CHEBI:17855 ! is_about triglyceride relationship: IAO:0000136 CHEBI:47775 ! is_about high-density lipoprotein cholesterol property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007930 name: LDL cholesterol:HDL cholesterol ratio def: "quantification of the ratio of LDL cholesterol to HDL cholesterol in a sample" [] xref: PMID:28046027 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0004732 ! lipoprotein measurement relationship: IAO:0000136 CHEBI:47775 ! is_about high-density lipoprotein cholesterol relationship: IAO:0000136 EFO:0004195 ! is_about LDL cholesterol property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007931 name: non-HDL cholesterol:HDL cholesterol ratio def: "quantification of the ratio of non-HDL cholesterol to HDL cholesterol in a sample" [] xref: PMID:28046027 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0004732 ! lipoprotein measurement relationship: IAO:0000136 CHEBI:47775 ! is_about high-density lipoprotein cholesterol property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007932 name: multiple keratinocyte carcinoma susceptibility measurement def: "Quantification of the susceptibility of developing multiple keratinocyte carcinomas (mKC), which is defined as the presence of more than one basal cell carcinoma (BCC) or squamous cell carcinoma (SCC)." [] xref: PMID:28081215 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007933 name: radius bone mineral density def: "mineral density of the radial bone" [] is_a: EFO:0003923 ! bone density relationship: IAO:0000136 UBERON:0001423 ! is_about radius bone property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007934 name: creatinine clearance measurement def: "The clearance rate of creatinine, that is, the volume of plasma that is cleared of creatinine by the kidneys per unit time. Creatinine clearance is calculated using the level of creatinine in a sample of urine, usually one collected over a period of 24 hours, the corresponding plasma creatinine level, and the volume of urine excreted. It is used as an approximation of the glomerular filtration rate (GFR)." [] xref: CMO:0000765 is_a: EFO:0004742 ! renal system measurement relationship: IAO:0000136 EFO:0003086 ! is_about kidney disease relationship: IAO:0000136 UBERON:0001008 ! is_about renal system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007935 name: urinary uric acid to creatinine ratio def: "quantification of the ratio of uric acid to creatinine in a urine sample" [] is_a: EFO:0005116 ! urinary metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007936 name: disease prognosis measurement def: "quantification of some aspect of disease prognosis" [] xref: PMID:28067912 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007937 name: blood protein measurement def: "quantification of the levels of some protein in a blood sample" [] is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007938 name: coronary atherosclerosis measurement def: "Quantification of coronary atherosclerosis as the number\nof diseased coronary vessels at the time of a catheterization procedure. The variable describes the number (0–3) of vessels with significant (> 75%) blockage while taking into account the location of the vessels as well as the left or right dominance of the patient" [] xref: PMID:28355232 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007939 name: respiratory symptom measurement def: "quantification of the range and severity of respiratory symptoms, either through clinical examination or through a standardised questionnaire assessing variables such as presence and severity of cough, pleghm and dyspnea" [] xref: PMID:28073367 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007940 name: chronic venous insufficiency def: "morphological and functional abnormalities of the venous system of long duration manifested either by symptoms and/or signs indicating the need for investigation and/or care" [] xref: MedDRA:10066682 xref: PMID:28374850 is_a: HP:0002624 ! Abnormal venous morphology relationship: has_modifier HP:0011010 ! Chronic property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007941 name: LDH-related sciatica symptom severity measurement def: "Quantification of the severity of sciatica symptoms in patients with lumbar disc herniation. In the case of persistent progressive severe sciatica symptoms, patients may require surgical intervention via microdiscectomy, a minimally invasive spinal surgery for removal of herniated lumbar disc tissue." [] synonym: "lumbar disc herniation-related sciatica symptom severity measurement" EXACT [] xref: PMID:28223688 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:1002005 ! is_about lumbar disc herniation relationship: IAO:0000136 HP:0011868 ! is_about Sciatica property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007942 name: hip osteoarthritis symptom severity measurement def: "Quantification of the hip osteoarthritis symptoms. In the case severe hip osteoarthritis, patients may require surgical intervention via a total hip replacement." [] xref: PMID:28319091 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:1000786 ! is_about osteoarthritis, hip property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007943 name: response to platinum-based neoadjuvant chemotherapy def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a platinum based neoadjuvant chemotherapy stimulus. Neoadjuvant chemotherapy is given as a first step to shrink a tumor before the main treatment, which is usually surgery, is given." [] is_a: EFO:0004647 ! response to platinum based chemotherapy property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007944 name: allergen exposure measurement def: "Quantification of an individual's level of exposure to an allergen such as a food allergen or dust mites. The level of exposure is defined as units of allergen in a sample, eg microgram of dust mites in a gram of dust." [] is_a: EFO:0008360 ! environmental exposure measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007945 name: agoraphobia symptom measurement def: "quantification of some aspect of agoraphobia symptoms such as their frequency or severity, usually via a structured questionnaire such as the Agoraphobia Cognition Questionnaire (ACQ)" [] is_a: EFO:0007795 ! anxiety disorder measurement relationship: IAO:0000136 EFO:1001872 ! is_about agoraphobia property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007946 name: tiredness measurement def: "Quantification an individual's level of tiredness, generally via a standardised questionnaire or structured interview." [] xref: PMID:28194004 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007947 name: serum galactose-deficient IgA1 measurement def: "Quantification of the galactose-deficient immunoglobulin A1, a form of immunoglobulin A1 deficient in the 3-6 O-glycans usually present in the hinge-region segments of the heavy chains of immunoglobulin A1. Galactose-deficient IgA1 (Gd-IgA1) glycoforms are significantly more abundant in individuals with IgA nephropathy than in healthy individuals." [] is_a: EFO:0004742 ! renal system measurement is_a: EFO:0004912 ! serum IgA measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007948 name: HIV-associated neurocognitive disorder def: "HIV-associated neurocognitive disorder (HAND) remains a common complication of HIV infection in the combination antiretroviral therapy (ART) era. Although modern ART has substantially improved life expectancy and reduced the incidence of HIVassociated dementia (HAD), milder forms of HAND remain prevalent, including asymptomatic neurocognitive impairment (ANI) and mild neurocognitive disorder (MND). The overall\nprevalence of HAND is 30–50% among unselected HIV-infected\npersons." [] synonym: "HAND" EXACT [] xref: MedDRA:10078164 xref: PMID:28447399 is_a: HP:0100543 ! Cognitive impairment relationship: IAO:0000136 EFO:0000764 ! is_about HIV infection property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007949 name: acute-on-chronic liver failure def: "Acute-on-chronic liver failure (ACLF) is an extreme condition during the natural history of chronic HBV infection, with a relatively high short-term mortality." [] xref: PMID:28130311 is_a: EFO:0001421 ! liver disease is_a: HP:0001392 ! Abnormality of the liver relationship: EFO:0000784 UBERON:0002107 ! has_disease_location liver relationship: RO:0002201 EFO:0004239 ! phenotype of chronic hepatitis B virus infection property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007950 name: GM23338 def: "Induced pluripotent stem cell line; Participant #1 (hu43860C) in the Personal Genome Project: http://www.personalgenomes.org Fibroblast culture from this same subject from which this cell line was made is GM23248and a matching lymphoblast line from this same subject is GM20431." [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005740 ! iPSC derived cell line relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation https://catalog.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM23338 xsd:string [Term] id: EFO:0007951 name: hFib2-iPS4 def: "This induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts, by viral transduction of OCT4, SOX2, KLF4, c-MYC, hTERT, and SV40 Large T antigen transgenes. Cells express pluripotent markers and have a normal karyotype, 46XY." [] synonym: "hFib2 iPS4" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005740 ! iPSC derived cell line relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation https://discovery.lifemapsc.com/stem-cell-differentiation/in-vitro-cells/inner-cell-mass-homo-sapiens-ips4-childrens-hospital-corporationboston xsd:string [Term] id: EFO:0007952 name: iPS-NIHi11 def: "Induced pluripotent stem cell line isolated from skin sample AG20443." [] synonym: "iPS NIHi11" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005740 ! iPSC derived cell line relationship: has_characteristic MONDO:0005180 ! Parkinson disease relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation "http://www.sciencedirect.com/science/article/pii/S1873506112000888, https://catalog.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=AG20443&PgId=166" xsd:string [Term] id: EFO:0007953 name: iPS-NIHi7 def: "Induced pluripotent stem cell line isolated from skin sample AG08395." [] synonym: "iPS NIHi7" EXACT [] is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005740 ! iPSC derived cell line relationship: has_characteristic MONDO:0005180 ! Parkinson disease relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation "http://www.sciencedirect.com/science/article/pii/S1873506112000888, https://catalog.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=AG08395&PgId=166" xsd:string [Term] id: EFO:0007955 name: mouth morphology measurement def: "quantification of some aspect of mouth morphology such as mouth width" [] xref: PMID:28441456 is_a: EFO:0010948 ! lower face morphology measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007956 name: monocyte:lymphocyte ratio def: "quantification of the ratio between absolute monocyte count and absolute lymphocyte count" [] synonym: "MLR" EXACT [] is_a: EFO:0004503 ! hematological measurement relationship: IAO:0000136 CL:0000542 ! is_about lymphocyte relationship: IAO:0000136 CL:0000576 ! is_about monocyte property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007957 name: urinary 1,3-butadiene measurement def: "quantification in a urine sample of 1,3-butadiene, a metabolite found in tobacco smoke and which is known to have carcinogenic properties" [] is_a: EFO:0005116 ! urinary metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007958 name: genotype effect measurement def: "quantification of the effect of an external genotype, eg from a parent/fetus during pregnancy or organ donor, on some aspect of an individual's metabolic processes" [] is_a: EFO:0001444 ! measurement property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007959 name: fetal genotype effect measurement def: "quantification of the effect of the fetal genotype on the metabolic processes of the mother during pregnancy" [] xref: PMID:28235828 is_a: EFO:0007958 ! genotype effect measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007960 name: organochlorine pesticide measurement def: "quantification of organochlorine pesticides or metabolites derived from organochloride pesticides in a sample" [] xref: PMID:28235828 is_a: EFO:0001444 ! measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 CHEBI:25705 ! is_about organochlorine insecticide property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007961 name: polybrominated biphenyl measurement def: "quantification in a sample of some polybrominated biphenyls, a group of man-made environmental pollutants which accumulate in humans with adverse health effects" [] synonym: "polybromobiphenyl measurement" EXACT [] xref: PMID:28235828 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007962 name: polybrominated diphenyl ether measurement def: "quantification in a sample of some polybrominated diphenyl ethers, a group of man-made environmental pollutants which accumulate in humans with adverse health effects" [] synonym: "polybromodiphenyl ether measurement" EXACT [] xref: PMID:28235828 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007963 name: abnormal paneth cell measurement def: "quantification of some aspect of Paneth cell abnormality, such as abnormal morphology or abnormal number of cells. Paneth cells, along with goblet cells, enterocytes, and enteroendocrine cells, represent the principal cell types of the epithelium of the small intestine." [] xref: PMID:28352666 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 CL:0000510 ! is_about paneth cell property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007964 name: gestational serum measurement def: "quantification of some chemical compound such as a metabolite or environmental pollutant in a serum sample taken from a women at some stage during pregnancy" [] xref: PMID:28235828 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007965 name: response to combination chemotherapy def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a combination of chemotherapeutic agents. Chemotherapeutic drugs are often administered in combination in order to maximise treatment effect." [] is_a: GO:0097327 ! response to antineoplastic agent property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007966 name: clopidogrel metabolite measurement def: "quantification of the activate metabolite of the platelet aggregation inhibitor clopidogrel in a sample" [] xref: PMID:28207573 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007967 name: blood osmolality measurement def: "quantification of the concentration of ions in blood, often expressed as a function of sodium and glucose concentrations" [] xref: PMID:28360221 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007968 name: tissue factor pathway inhibitor measurement def: "quantification of the amount of tissue factor pathway inhibitor in a sample" [] xref: PMID:28421636 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007969 name: cognitive inhibition measurement def: "quantification of cognitive inhibition or executive inhibition in an individual with ADHD, measured for example using the Stroop test" [] synonym: "executive inhibition measurement" EXACT [] xref: PMID:28416812 is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0003888 ! is_about attention deficit hyperactivity disorder relationship: IAO:0000136 EFO:0007046 ! is_about executive function property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007970 name: estrone measurement def: "quantification of the amount of estrone in a sample" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007971 name: estrone conjugate measurement def: "quantification of the amount of estrone conjugates, such as sulphate and glucuronide conjugates, in a sample" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007972 name: androstenedione measurement def: "quantification of androstenedione in a sample" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007973 name: palmitoleic acid measurement def: "The determination of the amount of palmitoleic acid present in a sample." [] is_a: EFO:0005110 ! fatty acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007974 name: vaccenic acid measurement def: "The determination of the amount of vaccenic acid present in a sample." [] is_a: EFO:0005110 ! fatty acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007975 name: gondoic acid measurement def: "The determination of the amount of gondoic acid present in a sample." [] is_a: EFO:0005110 ! fatty acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007976 name: erucic acid measurement def: "The determination of the amount of erucic acid present in a sample." [] is_a: EFO:0005110 ! fatty acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007977 name: nervonic acid measurement def: "The determination of the amount of nervonic acid present in a sample." [] is_a: EFO:0005110 ! fatty acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007978 name: red blood cell density measurement def: "quantification of the density of a red blood cell (DRBC). DRBC is affected by the hydration level of the cell, with dehydrated cells being dense and deformed. Increased DRBC may be an indicator of disease severity in sickle cell anemia" [] xref: PMID:28552477 is_a: EFO:0005047 ! erythrocyte measurement relationship: IAO:0000136 CL:0000232 ! is_about erythrocyte property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007979 name: childhood trauma measurement def: "quantification of some aspect of childhood trauma such as type, severity or duration. Childhood trauma can be reliably assessed through the Childhood Trauma Questionnaire (CTQ), a 28-item self-report inventory of early life adverse events. " [] xref: PMID:28453389 is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007980 name: cerebral blood flow measurement def: "quantification of the flow of blood through vessels in the brain, including flow rate and flow velocity through the vessel. Cerebral blood flow can be assessed using magnetic resonance imaging." [] xref: PMID:28627999 is_a: EFO:0004464 ! brain measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007981 name: response to thiazide def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a thiazide stimulus. Thiazides are a class of diuretics used primarily to treat hypertension and edema." [] is_a: EFO:0005405 ! response to antihypertensive drug is_a: GO:0036270 ! response to diuretic property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007982 name: mild neurocognitive disorder def: "mild neurocognitive disorder (MND) is a mild form of HIV-associated neurocognitive disorder (HAND), defined as mild neuropsychological impairment in two or more domains with at least mildly decreased everyday functioning" [] synonym: "MND" EXACT [] xref: MedDRA:10077808 xref: PMID:28447399 is_a: EFO:0007948 ! HIV-associated neurocognitive disorder property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007983 name: asymptomatic neurocognitive impairment def: "asymptomatic neurocognitive impairment (ANI) is a mild form of HIV-associated neurocognitive disorder (HAND), defined as mild neuropsychological impairment in two or more domains but no decrease in everyday functioning" [] synonym: "ANI" EXACT [] xref: PMID:28447399 is_a: EFO:0007948 ! HIV-associated neurocognitive disorder property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007984 name: platelet component distribution width def: "Measure of variation in platelet size." [] def: "The determination of the amount of platelet shape changes present in a sample. [ NCI ]" [] synonym: "PCDW" EXACT [] synonym: "Platelet Component Distribution Width Measurement" EXACT [] synonym: "Platelet distribution width" EXACT [] xref: CMO:0001350 xref: NCIt:C111294 is_a: EFO:0005036 ! platelet measurement relationship: IAO:0000136 CL:0000081 ! is_about blood cell relationship: IAO:0000136 CL:0000233 ! is_about platelet relationship: IAO:0000136 EFO:0001941 ! is_about blood component property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007985 name: platelet crit def: "The proportion of blood volume that is occupied by platelets, expressed as a percentage. " [] synonym: "PCT" EXACT [] synonym: "platelet crit (PCT)" EXACT [] synonym: "plateletcrit" EXACT [] synonym: "plateletcrit (PCT)" EXACT [] xref: CMO:0001349 is_a: EFO:0005036 ! platelet measurement relationship: IAO:0000136 CL:0000081 ! is_about blood cell relationship: IAO:0000136 CL:0000233 ! is_about platelet relationship: IAO:0000136 EFO:0001941 ! is_about blood component property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007986 name: reticulocyte count def: "The number of reticulocytes per unit volume of blood. Reticulocytes are immature red blood cells and typically compose aoubt 1% of red blood cells in the human body." [] xref: MedDRA:10038787 is_a: EFO:0010700 ! reticulocyte measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007987 name: granulocyte count def: "The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." [] synonym: "blood granulocyte count" EXACT [] xref: CMO:0000111 xref: MedDRA:10018678 is_a: EFO:0007988 ! myeloid white cell count relationship: IAO:0000136 CL:0000094 ! is_about granulocyte property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007988 name: myeloid white cell count def: "The number of myeloid leukocytes in a specified volume of blood, usually 1 cubic millimeter." [] synonym: "myeloid leukocyte count" EXACT [] is_a: EFO:0004308 ! leukocyte count relationship: IAO:0000136 CL:0000766 ! is_about myeloid leukocyte property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007989 name: monocyte percentage of leukocytes def: "A calculated measurement in which the number of monocytes in a specified sample of blood is divided by the total number of white blood cells in the sample, and the result presented as a ratio, fraction, quotient or percentage. " [] synonym: "blood monocyte count to total leukocyte count ratio" EXACT [] synonym: "monocyte count as percentage of total white blood cells" EXACT [] synonym: "monocyte count to total WBC count ratio" EXACT [] synonym: "monocyte percentage" EXACT [] synonym: "monocyte percentage of white cells" EXACT [] xref: CMO:0000374 is_a: EFO:0005091 ! monocyte count property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007990 name: neutrophil percentage of leukocytes def: "A calculated measurement in which the number of neutrophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. A neutrophil is, or is in the process of becoming, a granular leucocyte having a nucleus with three to five lobes connected by threads of chromatin, cytoplasm containing very fine granules, and which is readily stainable with neutral dyes." [] synonym: "blood neutrophil count to total leukocyte count ratio" EXACT [] synonym: "neutrophil count as percentage of total white blood cells" EXACT [] synonym: "neutrophil count to total WBC count ratio" EXACT [] synonym: "neutrophil percentage" EXACT [] synonym: "neutrophil percentage of white cells" EXACT [] xref: CMO:0000370 is_a: EFO:0004833 ! neutrophil count property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007991 name: eosinophil percentage of leukocytes def: "A calculated measurement in which the number of eosinophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. An eosinophil is a granular leukocyte having a nucleus with two lobes connected by a thread of chromatin, and cytoplasm containing coarse, round granules of uniform size that stain readily with eosin and other acid dyes." [] synonym: "blood eosinophil count to total leukocyte count ratio" EXACT [] synonym: "eosinophil count as percentage of total white blood cells" EXACT [] synonym: "eosinophil count to total WBC count ratio" EXACT [] synonym: "eosinophil percentage" EXACT [] synonym: "eosinophil percentage of white cells" EXACT [] xref: CMO:0000369 is_a: EFO:0004842 ! eosinophil count property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007992 name: basophil percentage of leukocytes def: "A calculated measurement in which the number of basophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. A basophil is a granular leukocyte with an irregularly shaped, relatively pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm containing coarse granules of variable size that stain bluish-black when exposed to basic dyes." [] synonym: "basophil count as percentage of total white blood cells" EXACT [] synonym: "basophil count to total WBC count ratio" EXACT [] synonym: "basophil percentage" EXACT [] synonym: "basophil percentage of white cells" EXACT [] synonym: "blood basophil count to total leukocyte count ratio" EXACT [] xref: CMO:0000368 is_a: EFO:0005090 ! basophil count property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007993 name: lymphocyte percentage of leukocytes def: "A calculated measurement in which the number of lymphocytes in a specified sample of blood is divided by the total number of white blood cells in the sample, and the result presented as a ratio, fraction, quotient or percentage. " [] synonym: "blood lymphocyte count to total leukocyte count ratio" EXACT [] synonym: "lymphocyte count as percentage of total white blood cells" EXACT [] synonym: "lymphocyte count to total WBC count ratio" EXACT [] synonym: "lymphocyte percentage" EXACT [] synonym: "lymphocyte percentage of white cells" EXACT [] xref: CMO:0000371 is_a: EFO:0004587 ! lymphocyte count property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007994 name: neutrophil percentage of granulocytes def: "A calculated measurement in which the number of neutrophil granulocytes is divided by the number of all granulocytes in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." [] is_a: EFO:0004833 ! neutrophil count property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007995 name: basophil percentage of granulocytes def: "A calculated measurement in which the number of basophil granulocytes is divided by the number of all granulocytes in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." [] is_a: EFO:0005090 ! basophil count property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007996 name: eosinophil percentage of granulocytes def: "A calculated measurement in which the number of eosinophil granulocytes is divided by the number of all granulocytes in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." [] is_a: EFO:0004842 ! eosinophil count property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007997 name: granulocyte percentage of myeloid white cells def: "A calculated measurement in which the number of granulocytes is divided by the number of all myeloid white cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." [] is_a: EFO:0007987 ! granulocyte count property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007998 name: cognitive impairment measurement def: "quantification of some aspect of cognitive impairment such as its severity or rate of progression" [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 HP:0100543 ! is_about Cognitive impairment property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0007999 name: lower body strength measurement def: "quantification of the force that can be exerted by the lower body" [] is_a: EFO:0004302 ! anthropometric measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008000 name: peak insulin response measurement def: "quantification of the time point at which insulin secretion is highest" [] is_a: EFO:0004467 ! insulin measurement relationship: IAO:0000136 CHEBI:5931 ! is_about insulin (human) property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008001 name: insulin secretion measurement def: "Measurement of compounds, generally C-peptide or mature insulin, whose levels quantify insulin secretion from the pancreas." [] synonym: "insulin secretion rate measurement" EXACT [] xref: http://orcid.org/0000-0001-9043-693X is_a: EFO:0004467 ! insulin measurement relationship: IAO:0000136 CHEBI:5931 ! is_about insulin (human) property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008002 name: physical activity measurement def: "quantification of some aspect of physical activity such as frequency or intensity" [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:0003940 ! is_about physical activity property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008003 name: heart rate variability measurement def: "Quantification of heart rate variability, the physiological phenomenon of variation in the time interval between heartbeats." [] is_a: EFO:0004326 ! heart rate property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008004 name: resting metabolic rate measurement def: "quantification of an individual's resting metabolic rate, the minimum amount of energy required to sustain life during a time period of steady resting conditions. RMR differs from BMR because BMR measurements must meet total physiological equilibrium whereas RMR conditions of measurement can be altered and defined by the contextual limitations." [] synonym: "RMR measurement" EXACT [] is_a: EFO:0005115 ! metabolic rate measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008005 name: energy expenditure measurement def: "quantification of an individual's energy expenditure, generally considered to be the sum of internal heat produced and external work through physical activity" [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:0005109 ! is_about energy expenditure property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008006 name: skin aging measurement def: "quantification of some aspect of skin aging such as wrinkling or photoaging. Skin aging can be assessed using teh 6-point Beagley and Gibson (BG6) microtopography scoring system of skin patterning regularity and complexity" [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:0005422 ! is_about skin aging property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008007 name: age at assessment def: "The age of an individual at the time an assessment takes place" [] xref: PMID:20634892 is_a: EFO:0000246 ! age property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008008 name: lower urinary tract symptom def: "Symptoms that result from pathologic processes affecting the urinary bladder and/or urethra. They include urinary frequency, nocturia; urgency, incomplete voiding, and urinary incontinence. They are often associated with overactive bladder; urinary incompetence; and interstitial cystitis. Lower urinary tract symptoms in males were traditionally called prostatism." [] xref: MeSH:D059411 xref: NCIt:C94773 xref: SNOMEDCT:307541003 is_a: EFO:0003765 ! sign or symptom property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008009 name: 1,5 anhydroglucitol measurement def: "quantification of the amount of 1,5 anydroglucitol in a sample" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008010 name: [Pyruvate dehydrogenase acetyl-transferring] kinase isozyme 1, mitochondrial measurement def: "quantification of the amount of [Pyruvate dehydrogenase acetyl-transferring] kinase isozyme 1, mitochondrial in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008011 name: a disintegrin and metalloproteinase with thrombospondin motifs 13 measurement def: "quantification of the amount of a disintegrin and metalloproteinase with thrombospondin motifs 13 in a sample" [] synonym: "ADAMTS-13 measurement" EXACT [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008012 name: Abelson tyrosine-protein kinase 2 measurement def: "quantification of the amount of Abelson tyrosine-protein kinase 2 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008013 name: acid sphingomyelinase-like phosphodiesterase 3a measurement def: "quantification of the amount of acid sphingomyelinase-like phosphodiesterase 3a in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008014 name: ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 measurement def: "quantification of the amount of ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008015 name: afamin measurement def: "quantification of the amount of afamin in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008016 name: Agouti-related protein measurement def: "quantification of the amount of Agouti-related protein in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008017 name: alcohol dehydrogenase [NADP+] measurement def: "quantification of the amount of alcohol dehydrogenase [NADP+] in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008018 name: alpha-1-antichymotrypsin complex measurement def: "quantification of the amount of alpha-1-antichymotrypsin complex in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008019 name: alpha-1-antichymotrypsin measurement def: "quantification of the amount of alpha-1-antichymotrypsin in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008020 name: alpha-2-HS-glycoprotein measurement def: "quantification of the amount of alpha-2-HS-glycoprotein in a sample" [] synonym: "fetuin-A protein measurement" EXACT [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008021 name: alpha-2-macroglobulin receptor-associated protein measurement def: "quantification of the amount of alpha-2-macroglobulin receptor-associated protein in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008022 name: angiogenin measurement def: "quantification of the amount of angiogenin in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008023 name: angiopoietin-1 receptor, soluble measurement def: "quantification of the amount of angiopoietin-1 receptor, soluble in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008024 name: angiostatin measurement def: "quantification of the amount of angiostatin in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008025 name: angiotensinogen measurement def: "quantification of the amount of angiotensinogen in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008026 name: annexin A1 measurement def: "quantification of the amount of annexin A1 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008027 name: annexin A2 measurement def: "quantification of the amount of annexin A2 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008028 name: apolipoprotein E isoform E2 measurement def: "quantification of the amount of apolipoprotein E isoform E2 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008029 name: apolipoprotein E measurement def: "quantification of the amount of apolipoprotein E in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008030 name: arylsulfatase B measurement def: "quantification of the amount of arylsulfatase B in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008031 name: aspartate aminotransferase, cytoplasmic measurement def: "quantification of the amount of aspartate aminotransferase, cytoplasmic in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008032 name: basal cell adhesion molecule measurement def: "quantification of the amount of basal Cell Adhesion Molecule in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008033 name: beta-Ala-His dipeptidase measurement def: "quantification of the amount of beta-Ala-His dipeptidase in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008034 name: beta-endorphin measurement def: "quantification of the amount of beta-endorphin in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008035 name: beta-nerve growth factor measurement def: "quantification of the amount of beta-nerve growth factor in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008036 name: BMI-adjusted fasting blood glucose measurement def: "fasting blood glucose measurement that has been adjusted for subjects' body mass index" [] is_a: EFO:0004465 ! fasting blood glucose measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008037 name: BMI-adjusted fasting blood insulin measurement def: "fasting insulin measurement that has been adjusted for subjects' body mass index" [] is_a: EFO:0004466 ! fasting blood insulin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008038 name: BMI-adjusted hip bone size def: "hip bone size measurement that has been adjusted for subjects' body mass index" [] is_a: EFO:0004844 ! hip bone size property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008039 name: BMI-adjusted hip circumference def: "hip circumference measurement that has been adjusted for subjects' body mass index" [] is_a: EFO:0005093 ! hip circumference property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008040 name: breast cancer anti-estrogen resistance protein 3 measurement def: "quantification of the amount of breast cancer anti-estrogen resistance protein 3 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008041 name: C-C motif chemokine 1 measurement def: "quantification of the amount of C-C motif chemokine 1 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008042 name: C-C motif chemokine 14 measurement def: "quantification of the amount of C-C motif chemokine 14 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008043 name: C-C motif chemokine 15 measurement def: "quantification of the amount of C-C motif chemokine 15 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008044 name: C-C motif chemokine 16 measurement def: "quantification of the amount of C-C motif chemokine 16 in a sample" [] synonym: "chemokine CC-4 (HCC-4) measurement" EXACT [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008045 name: C-C motif chemokine 17 measurement def: "quantification of the amount of C-C motif chemokine 17 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008046 name: C-C motif chemokine 18 measurement def: "quantification of the amount of C-C motif chemokine 18 in a sample" [] synonym: "pulmonary and activation-regulated chemokine (PARC) measurement" EXACT [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008047 name: C-C motif chemokine 19 measurement def: "quantification of the amount of C-C motif chemokine 19 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008048 name: C-C motif chemokine 21 measurement def: "quantification of the amount of C-C motif chemokine 21 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008049 name: C-C motif chemokine 23 measurement def: "quantification of the amount of C-C motif chemokine 23 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008050 name: C-C motif chemokine 25 measurement def: "quantification of the amount of C-C motif chemokine 25 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008051 name: C-C motif chemokine 3 measurement def: "quantification of the amount of C-C motif chemokine 3 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008052 name: C-C motif chemokine 3-like 1 measurement def: "quantification of the amount of C-C motif chemokine 3-like 1 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008053 name: C-C motif chemokine 5 measurement def: "quantification of the amount of C-C motif chemokine 5 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008054 name: C-C motif chemokine 7 measurement def: "quantification of the amount of C-C motif chemokine 7 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008055 name: C-C motif chemokine 8 measurement def: "quantification of the amount of C-C motif chemokine 8 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008056 name: C-X-C motif chemokine 10 measurement def: "quantification of the amount of C-X-C motif chemokine 10 in a sample" [] synonym: "Interferon gamma-induced protein 10 measurement" EXACT [] synonym: "IP-10 measurement" EXACT [] synonym: "IP10 measurement" EXACT [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008057 name: C-X-C motif chemokine 11 measurement def: "quantification of the amount of C-X-C motif chemokine 11 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008058 name: C-X-C motif chemokine 5 measurement def: "quantification of the amount of C-X-C motif chemokine 5 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008059 name: C-X-C motif chemokine 6 measurement def: "quantification of the amount of C-X-C motif chemokine 6 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008060 name: cadherin-5 measurement def: "quantification of the amount of cadherin-5 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008061 name: calcineurin measurement def: "quantification of the amount of calcineurin in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008062 name: calcium/calmodulin-dependent protein kinase type 1 measurement def: "quantification of the amount of calcium/calmodulin-dependent protein kinase type 1 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008063 name: calcium/calmodulin-dependent protein kinase type 1D measurement def: "quantification of the amount of calcium/calmodulin-dependent protein kinase type 1D in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008064 name: calpain I measurement def: "quantification of the amount of calpain I in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008065 name: calpastatin measurement def: "quantification of the amount of calpastatin in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008066 name: carbohydrate sulfotransferase 15 measurement def: "quantification of the amount of carbohydrate sulfotransferase 15 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008067 name: carbonic anhydrase 13 measurement def: "quantification of the amount of carbonic anhydrase 13 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008068 name: carbonic anhydrase 6 measurement def: "quantification of the amount of carbonic anhydrase 6 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008069 name: carboxypeptidase B2 measurement def: "quantification of the amount of carboxypeptidase B2 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008070 name: caspase-3 measurement def: "quantification of the amount of caspase-3 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008071 name: catalase measurement def: "quantification of the amount of catalase in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008072 name: cathepsin B measurement def: "quantification of the amount of cathepsin B in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008073 name: cathepsin S measurement def: "quantification of the amount of cathepsin S in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008074 name: cathepsin Z measurement def: "quantification of the amount of cathepsin Z in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008075 name: cation-independent mannose-6-phosphate receptor measurement def: "quantification of the amount of cation-independent mannose-6-phosphate receptor in a sample" [] is_a: EFO:0007937 ! blood protein measurement is_a: EFO:0010968 ! phosphate measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008076 name: CD109 antigen measurement def: "quantification of the amount of CD109 antigen in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008077 name: CD209 antigen measurement def: "quantification of the amount of CD209 antigen in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008078 name: CD27 antigen measurement def: "quantification of the amount of CD27 antigen in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008079 name: cell adhesion molecule-related/down-regulated by oncogenes measurement def: "quantification of the amount of cell adhesion molecule-related/down-regulated by oncogenes in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008080 name: cerebrospinal fluid volume measurement def: "quantification of the volume of cerebrospinal fluid in the brain, usually through an MRI scan" [] is_a: EFO:0006930 ! brain volume measurement relationship: IAO:0000136 EFO:0001715 ! is_about volume relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008081 name: cGMP-specific 3',5'-cyclic phosphodiesterase measurement def: "quantification of the amount of cGMP-specific 3',5'-cyclic phosphodiesterase in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008082 name: chemokine (C-C motif) ligand 27 measurement def: "quantification of the amount of chemokine (C-C motif) ligand 27 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008083 name: chemokine (C-X-C motif) ligand 1 measurement def: "quantification of the amount of chemokine (C-X-C motif) ligand 1 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008084 name: chitotriosidase-1 measurement def: "quantification of the amount of chitotriosidase-1 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008085 name: Ck-beta-8-1 measurement def: "quantification of the amount of Ck-beta-8-1 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008086 name: CMRF35-like molecule 6 measurement def: "quantification of the amount of CMRF35-like molecule 6 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008087 name: coagulation factor V measurement def: "quantification of the amount of coagulation Factor V in a sample" [] is_a: EFO:0004634 ! coagulation factor measurement is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 GO:0007596 ! is_about blood coagulation property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008088 name: collectin-11 measurement def: "quantification of the amount of collectin-11 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008089 name: complement C1q subcomponent measurement def: "quantification of the amount of complement C1q subcomponent in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008090 name: complement C1r subcomponent measurement def: "quantification of the amount of complement C1r subcomponent in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008091 name: complement C1s subcomponent measurement def: "quantification of the amount of complement C1s subcomponent in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008092 name: complement C4b measurement def: "quantification of the amount of complement C4b in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008093 name: complement component C7 measurement def: "quantification of the amount of complement component C7 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008094 name: complement component C8 measurement def: "quantification of the amount of complement component C8 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008095 name: complement decay-accelerating factor measurement def: "quantification of the amount of complement decay-accelerating factor in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008096 name: complement factor B measurement def: "quantification of the amount of complement factor B in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008097 name: complement factor H measurement def: "quantification of the amount of complement factor H in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008098 name: complement factor H-related protein 5 measurement def: "quantification of the amount of complement factor H-related protein 5 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008099 name: complement factor I measurement def: "quantification of the amount of complement factor I in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008100 name: contactin-2 measurement def: "quantification of the amount of contactin-2 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008101 name: contactin-5 measurement def: "quantification of the amount of contactin-5 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008102 name: copine-1 measurement def: "quantification of the amount of copine-1 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008103 name: cystatin-D measurement def: "quantification of the amount of cystatin-D in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008104 name: cystatin-F measurement def: "quantification of the amount of cystatin-F in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008105 name: cystatin-SA measurement def: "quantification of the amount of cystatin-SA in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008106 name: cystatin-SN measurement def: "quantification of the amount of cystatin-SN in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008107 name: death-associated protein kinase 2 measurement def: "quantification of the amount of death-associated protein kinase 2 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008108 name: dermatopontin measurement def: "quantification of the amount of dermatopontin in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008109 name: Dickkopf-related protein 3 measurement def: "quantification of the amount of Dickkopf-related protein 3 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008110 name: Dickkopf-related protein 4 measurement def: "quantification of the amount of Dickkopf-related protein 4 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008111 name: diet measurement def: "quantification of some aspect of diet, including diet patterns, balance of nutrient consumption and glycemic load" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008112 name: dual specificity mitogen-activated protein kinase kinase 2 measurement def: "quantification of the amount of dual specificity mitogen-activated protein kinase kinase 2 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008113 name: dual specificity mitogen-activated protein kinase kinase 4 measurement def: "quantification of the amount of dual specificity mitogen-activated protein kinase kinase 4 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008114 name: dynein light chain roadblock-type 1 measurement def: "quantification of the amount of dynein light chain roadblock-type 1 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008115 name: ectonucleoside triphosphate diphosphohydrolase 5 measurement def: "quantification of the amount of ectonucleoside triphosphate diphosphohydrolase 5 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008116 name: EGF-like module-containing mucin-like hormone receptor-like 2 measurement def: "quantification of the amount of EGF-like module-containing mucin-like hormone receptor-like 2 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008117 name: elafin measurement def: "quantification of the amount of elafin in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008118 name: endoglin measurement def: "quantification of the amount of endoglin in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008119 name: endoplasmic reticulum aminopeptidase 1 measurement def: "quantification of the amount of endoplasmic reticulum aminopeptidase 1 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008120 name: endothelial cell-selective adhesion molecule measurement def: "quantification of the amount of endothelial cell-selective adhesion molecule in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008121 name: endothelin-converting enzyme 1 measurement def: "quantification of the amount of endothelin-converting enzyme 1 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008122 name: eotaxin measurement def: "quantification of the amount of eotaxin in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008123 name: ephrin type-A receptor 1 measurement def: "quantification of the amount of ephrin type-A receptor 1 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008124 name: ephrin type-B receptor 2 measurement def: "quantification of the amount of ephrin type-B receptor 2 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008125 name: estrogen receptor measurement def: "quantification of the amount of estrogen receptor in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008126 name: extracellular matrix protein 1 measurement def: "quantification of the amount of extracellular matrix protein 1 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008127 name: Fc receptor-like protein 3 measurement def: "quantification of the amount of Fc receptor-like protein 3 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008128 name: fetuin-B measurement def: "quantification of the amount of fetuin-B in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008129 name: fibroblast growth factor 2 measurement def: "quantification of the amount of fibroblast growth factor 2 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008130 name: fibroblast growth factor basic measurement def: "quantification of the amount of fibroblast growth factor basic in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008131 name: fibronectin fragment 3 measurement def: "quantification of the amount of fibronectin Fragment 3 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008132 name: fibronectin fragment 4 measurement def: "quantification of the amount of fibronectin Fragment 4 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008133 name: fibronectin measurement def: "quantification of the amount of fibronectin in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008134 name: ficolin-1 measurement def: "quantification of the amount of ficolin-1 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008135 name: ficolin-2 measurement def: "quantification of the amount of ficolin-2 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008136 name: galactoside 34-L-fucosyltransferase measurement def: "quantification of the amount of galactoside 34-L-fucosyltransferase in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008137 name: galectin-3 measurement def: "quantification of the amount of galectin-3 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008138 name: GDNF family receptor alpha-2 measurement def: "quantification of the amount of GDNF family receptor alpha-2 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008139 name: glypican-5 measurement def: "quantification of the amount of glypican-5 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008140 name: gp41 C34 peptide, HIV measurement def: "quantification of the amount of gp41 C34 peptide, HIV in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008141 name: granulins measurement def: "quantification of the amount of granulins in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008142 name: granulocyte colony-stimulating factor measurement def: "quantification of the amount of granulocyte colony-stimulating factor in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008143 name: obsolete_granulocyte-colony stimulating factor measurement def: "quantification of the amount of granulocyte-colony stimulating factor in a sample" [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.88" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://www.ebi.ac.uk/efo/EFO_0008142\nlabel: granulocyte colony-stimulating factor measurement" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0008142 [Term] id: EFO:0008144 name: granulysin measurement def: "quantification of the amount of granulysin in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008145 name: granzyme A measurement def: "quantification of the amount of granzyme A in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008146 name: growth-regulated alpha protein measurement def: "quantification of the amount of growth-regulated alpha protein in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008148 name: hemojuvelin measurement def: "quantification of the amount of hemojuvelin in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008149 name: hemopexin measurement def: "quantification of the amount of hemopexin in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008150 name: heparin cofactor 2 measurement def: "quantification of the amount of heparin cofactor 2 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008151 name: hepatitis A virus cellular receptor 2 measurement def: "quantification of the amount of hepatitis A virus cellular receptor 2 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008152 name: hepatocyte growth factor activator measurement def: "quantification of the amount of hepatocyte growth factor activator in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008153 name: hepatocyte growth factor receptor measurement def: "quantification of the amount of hepatocyte growth factor receptor in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008154 name: hepatocyte growth factor-like protein measurement def: "quantification of the amount of hepatocyte growth factor-like protein in a sample" [] synonym: "macrophage-stimulating protein (MSP) measurement" EXACT [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008155 name: histidine-rich glycoprotein measurement def: "quantification of the amount of histidine-rich glycoprotein in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008156 name: human Chorionic Gonadotropin measurement def: "quantification of the amount of human Chorionic Gonadotropin in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008157 name: inorganic pyrophosphatase measurement def: "quantification of the amount of inorganic pyrophosphatase in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008158 name: inosine-5'-monophosphate dehydrogenase 1 measurement def: "quantification of the amount of inosine-5'-monophosphate dehydrogenase 1 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008159 name: inosine-5'-monophosphate dehydrogenase 2 measurement def: "quantification of the amount of inosine-5'-monophosphate dehydrogenase 2 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008160 name: insulin receptor measurement def: "quantification of the amount of insulin receptor in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008161 name: insulin-like growth factor-binding protein 7 measurement def: "quantification of the amount of insulin-like growth factor-binding protein 7 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008162 name: integrin alpha-I: beta-1 complex measurement def: "quantification of the amount of integrin alpha-I: beta-1 complex in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008163 name: intercellular adhesion molecule 2 measurement def: "quantification of the amount of intercellular adhesion molecule 2 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008164 name: intercellular adhesion molecule 5 measurement def: "quantification of the amount of intercellular adhesion molecule 5 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008165 name: interferon gamma measurement def: "quantification of the amount of interferon gamma in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008166 name: obsolete_interleukin 1 beta measurement def: "quantification of the amount of interleukin 1 beta in a sample" [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.5.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication, use http://www.ebi.ac.uk/efo/EFO_0004812" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0004812 [Term] id: EFO:0008167 name: interleukin 1 Receptor accessory protein measurement def: "quantification of the amount of interleukin 1 Receptor accessory protein in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008168 name: interleukin 1 receptor-like 1 measurement def: "quantification of the amount of interleukin 1 receptor-like 1 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008169 name: interleukin 1 receptor-like 2 measurement def: "quantification of the amount of interleukin 1 receptor-like 2 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008170 name: obsolete_interleukin 12 receptor subunit beta-1 measurement def: "quantification of the amount of interleukin 12 receptor subunit beta-1 in a sample" [] property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.58.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0801715 [Term] id: EFO:0008171 name: interleukin 13 measurement def: "quantification of the amount of interleukin 13 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008172 name: interleukin 15 receptor subunit alpha measurement def: "quantification of the amount of interleukin 15 receptor subunit alpha in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008173 name: interleukin 16 measurement def: "quantification of the amount of interleukin 16 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008174 name: interleukin 17 measurement def: "quantification of the amount of interleukin 17 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008175 name: interleukin 17 receptor A measurement def: "quantification of the amount of interleukin 17 receptor A in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008176 name: interleukin 17 receptor B measurement def: "quantification of the amount of interleukin 17 receptor B in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008177 name: interleukin 17 receptor D measurement def: "quantification of the amount of interleukin 17 receptor D in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008178 name: interleukin 18 receptor 1 measurement def: "quantification of the amount of interleukin 18 receptor 1 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008179 name: interleukin 18 receptor accessory protein measurement def: "quantification of the amount of interleukin 18 receptor accessory protein in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008180 name: interleukin 19 measurement def: "quantification of the amount of interleukin 19 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008181 name: interleukin 23 receptor measurement def: "quantification of the amount of interleukin 23 receptor in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008182 name: interleukin 25 measurement def: "quantification of the amount of interleukin 25 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008183 name: interleukin 27 receptor subunit alpha measurement def: "quantification of the amount of interleukin 27 receptor subunit alpha in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008184 name: interleukin 4 measurement def: "quantification of the amount of interleukin 4 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008185 name: interleukin 5 measurement def: "quantification of the amount of interleukin 5 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008186 name: interleukin 5 receptor subunit alpha measurement def: "quantification of the amount of interleukin 5 receptor subunit alpha in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008187 name: interleukin 6 receptor subunit alpha measurement def: "quantification of the amount of interleukin 6 receptor subunit alpha in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008188 name: interleukin 6 receptor subunit beta measurement def: "quantification of the amount of interleukin 6 receptor subunit beta in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008189 name: interleukin 7 measurement def: "quantification of the amount of interleukin 7 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008190 name: interleukin 7 receptor subunit alpha measurement def: "quantification of the amount of interleukin 7 receptor subunit alpha in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008191 name: interleukin 8 measurement def: "quantification of the amount of interleukin 8 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008192 name: interleukin 9 measurement def: "quantification of the amount of interleukin 9 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008193 name: interstitial collagenase measurement def: "quantification of the amount of interstitial collagenase in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008194 name: kallikrein-12 measurement def: "quantification of the amount of kallikrein-12 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008195 name: kallikrein-7 measurement def: "quantification of the amount of kallikrein-7 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008196 name: kallistatin measurement def: "quantification of the amount of kallistatin in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008197 name: killer cell immunoglobulin-like receptor 2DL4 measurement def: "quantification of the amount of killer cell immunoglobulin-like receptor 2DL4 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008198 name: kininogen-1 measurement def: "quantification of the amount of kininogen-1 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008199 name: Kunitz-type protease inhibitor 1 measurement def: "quantification of the amount of Kunitz-type protease inhibitor 1 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008200 name: Kunitz-type protease inhibitor 2 measurement def: "quantification of the amount of Kunitz-type protease inhibitor 2 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008201 name: kynureninase measurement def: "quantification of the amount of kynureninase in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008202 name: L-Selectin measurement def: "quantification of the amount of L-Selectin in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008203 name: lactadherin measurement def: "quantification of the amount of lactadherin in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008204 name: left ventricular diastolic function measurement def: "quantification of some aspect of the diastolic function of the left cardiac ventricle such as peak velocity of mitral waves, isovolumetric relaxation time or diastolic dysfunction with preserved ejection fraction" [] is_a: EFO:0004298 ! cardiovascular measurement relationship: IAO:0000136 UBERON:0002082 ! is_about cardiac ventricle property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008205 name: left ventricular structural measurement def: "quantification of some aspect of the structure of the left cardiac ventricle such as wall thickness, mass or atrial atero-posterior diameter" [] is_a: EFO:0004298 ! cardiovascular measurement relationship: IAO:0000136 UBERON:0002082 ! is_about cardiac ventricle property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008206 name: left ventricular systolic function measurement def: "quantification of some aspect of the systolic function of the left cardiac ventricle such as ventricular fractional shortening or systolic dysfunction" [] is_a: EFO:0004298 ! cardiovascular measurement relationship: IAO:0000136 UBERON:0002082 ! is_about cardiac ventricle property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008207 name: leucine carboxyl methyltransferase 1 measurement def: "quantification of the amount of leucine carboxyl methyltransferase 1 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008208 name: leukocyte immunoglobulin-like receptor subfamily B member 1 measurement def: "quantification of the amount of leukocyte immunoglobulin-like receptor subfamily B member 1 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008209 name: leukocyte immunoglobulin-like receptor subfamily B member 2 measurement def: "quantification of the amount of leukocyte immunoglobulin-like receptor subfamily B member 2 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008210 name: low affinity immunoglobulin epsilon Fc receptor measurement def: "quantification of the amount of low affinity immunoglobulin epsilon Fc receptor in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008211 name: low affinity immunoglobulin gamma Fc region receptor II-a/b measurement def: "quantification of the amount of low affinity immunoglobulin gamma Fc region receptor II-a/b in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008212 name: low affinity immunoglobulin gamma Fc region receptor III-B measurement def: "quantification of the amount of low affinity immunoglobulin gamma Fc region receptor III-B in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008213 name: low molecular weight phosphotyrosine protein phosphatase measurement def: "quantification of the amount of low molecular weight phosphotyrosine protein phosphatase in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008214 name: lymphotactin measurement def: "quantification of the amount of lymphotactin in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008215 name: lysosomal protective protein measurement def: "quantification of the amount of lysosomal protective protein in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008216 name: lysozyme C measurement def: "quantification of the amount of lysozyme C in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008217 name: macrophage colony stimulating factor measurement def: "quantification of the amount of macrophage colony stimulating factor in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008218 name: macrophage inflammatory protein 1a measurement def: "quantification of the amount of macrophage inflammatory protein 1a in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008219 name: macrophage inflammatory protein 1b measurement def: "quantification of the amount of macrophage inflammatory protein 1b in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008220 name: macrophage metalloelastase measurement def: "quantification of the amount of macrophage metalloelastase in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008221 name: macrophage migration inhibitory factor measurement def: "quantification of the amount of macrophage migration inhibitory factor in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008222 name: macrophage scavenger receptor types I and II measurement def: "quantification of the amount of macrophage scavenger receptor types I and II in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008223 name: mannan-binding lectin serine protease 1 measurement def: "quantification of the amount of mannan-binding lectin serine protease 1 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008224 name: mannose-binding protein C measurement def: "quantification of the amount of mannose-binding protein C in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008225 name: MAP kinase-activated protein kinase 2 measurement def: "quantification of the amount of MAP kinase-activated protein kinase 2 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008226 name: MAP kinase-activated protein kinase 3 measurement def: "quantification of the amount of MAP kinase-activated protein kinase 3 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008227 name: matrilysin measurement def: "quantification of the amount of matrilysin in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008228 name: mediator of RNA polymerase II transcription subunit 1 measurement def: "quantification of the amount of mediator of RNA polymerase II transcription subunit 1 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008229 name: melanoma-derived growth regulatory protein measurement def: "quantification of the amount of melanoma-derived growth regulatory protein in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008230 name: mental development measurement def: "quantification of some aspect of mental development, including cognition, expressive language and receptive language" [] is_a: EFO:0008245 ! neurodevelopmental measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008231 name: metalloproteinase inhibitor 3 measurement def: "quantification of the amount of metalloproteinase inhibitor 3 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008232 name: methionine aminopeptidase 2 measurement def: "quantification of the amount of methionine aminopeptidase 2 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008233 name: MHC class I polypeptide-related sequence A measurement def: "quantification of the amount of MHC class I polypeptide-related sequence A in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008234 name: MHC class I polypeptide-related sequence B measurement def: "quantification of the amount of MHC class I polypeptide-related sequence B in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008235 name: monocyte chemotactic protein 3 measurement def: "quantification of the amount of monocyte chemotactic protein 3 in a sample" [] synonym: "CCL7 measurement" EXACT [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008236 name: monokine induced by gamma interferon measurement def: "quantification of the amount of monokine induced by gamma interferon in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008237 name: motor development measurement def: "quantification of some aspect of motor development, including fine and gross motor skills" [] is_a: EFO:0008245 ! neurodevelopmental measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008238 name: myeloid cell surface antigen CD33 measurement def: "quantification of the amount of myeloid cell surface antigen CD33 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008239 name: N-acetyl-D-glucosamine kinase measurement def: "quantification of the amount of N-acetyl-D-glucosamine kinase in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008240 name: N-acylethanolamine-hydrolyzing acid amidase measurement def: "quantification of the amount of N-acylethanolamine-hydrolyzing acid amidase in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008241 name: NAD-dependent protein deacetylase sirtuin-2 measurement def: "quantification of the amount of NAD-dependent protein deacetylase sirtuin-2 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008242 name: NADPH--cytochrome P450 reductase measurement def: "quantification of the amount of NADPH--cytochrome P450 reductase in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008243 name: natural cytotoxicity triggering receptor 3 measurement def: "quantification of the amount of natural cytotoxicity triggering receptor 3 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008244 name: neurexophilin-1 measurement def: "quantification of the amount of neurexophilin-1 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008245 name: neurodevelopmental measurement def: "quantification of some aspect of neurodevelopment, such as language development or fine motor skills development. Neurodevelopment scores can used as an indicator of neurodevelopmental delays." [] is_a: EFO:0001444 ! measurement property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008246 name: neurogenic locus notch homolog protein 1 measurement def: "quantification of the amount of neurogenic locus notch homolog protein 1 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008247 name: neutral ceramidase measurement def: "quantification of the amount of neutral ceramidase in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008248 name: neutrophil collagenase measurement def: "quantification of the amount of neutrophil collagenase in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008249 name: nidogen-1 measurement def: "quantification of the amount of nidogen-1 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008250 name: NKG2-D type II integral membrane protein measurement def: "quantification of the amount of NKG2-D type II integral membrane protein in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008251 name: non-receptor tyrosine-protein kinase TYK2 measurement def: "quantification of the amount of non-receptor tyrosine-protein kinase TYK2 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008252 name: OCIA domain-containing protein 1 measurement def: "quantification of the amount of OCIA domain-containing protein 1 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008253 name: OX-2 membrane glycoprotein measurement def: "quantification of the amount of OX-2 membrane glycoprotein in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008254 name: P-Selectin measurement def: "quantification of the amount of P-Selectin in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008255 name: particulate matter air pollution measurement def: "quantification of some aspect of particulate matter air pollution, such as daily levels of exposure" [] is_a: EFO:0008360 ! environmental exposure measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008256 name: peptidyl-prolyl cis-trans isomerase D measurement def: "quantification of the amount of peptidyl-prolyl cis-trans isomerase D in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008257 name: peptidyl-prolyl cis-trans isomerase E measurement def: "quantification of the amount of peptidyl-prolyl cis-trans isomerase E in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008258 name: persulfide dioxygenase ETHE1, mitochondrial measurement def: "quantification of the amount of persulfide dioxygenase ETHE1, mitochondrial in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008259 name: phospholipase A2, membrane associated measurement def: "quantification of the amount of phospholipase A2, membrane associated in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008260 name: plasma kallikrein measurement def: "quantification of the amount of plasma kallikrein in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008261 name: plasma protease C1 inhibitor measurement def: "quantification of the amount of plasma protease C1 inhibitor in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008262 name: platelet glycoprotein 4 measurement def: "quantification of the amount of platelet glycoprotein 4 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008263 name: platelet glycoprotein VI measurement def: "quantification of the amount of platelet glycoprotein VI in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008264 name: platelet-derived growth factor BB measurement def: "quantification of the amount of platelet-derived growth factor BB in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008265 name: platelet-derived growth factor receptor beta measurement def: "quantification of the amount of platelet-derived growth factor receptor beta in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008266 name: plexin-C1 measurement def: "quantification of the amount of plexin-C1 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008267 name: polymeric immunoglobulin receptor measurement def: "quantification of the amount of polymeric immunoglobulin receptor in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008268 name: programmed cell death 1 ligand 2 measurement def: "quantification of the amount of programmed cell death 1 ligand 2 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008269 name: properdin measurement def: "quantification of the amount of properdin in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008270 name: proprotein convertase subtilisin/kexin type 7 measurement def: "quantification of the amount of proprotein convertase subtilisin/kexin type 7 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008271 name: protein jagged-1 measurement def: "quantification of the amount of protein jagged-1 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008272 name: proto-oncogene tyrosine-protein kinase receptor Ret measurement def: "quantification of the amount of proto-oncogene tyrosine-protein kinase receptor Ret in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008273 name: repulsive guidance molecule A measurement def: "quantification of the amount of repulsive guidance molecule A in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008274 name: retinoic acid receptor responder protein 2 measurement def: "quantification of the amount of retinoic acid receptor responder protein 2 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008275 name: S-formylglutathione hydrolase measurement def: "quantification of the amount of S-formylglutathione hydrolase in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008276 name: scavenger receptor class F member 1 measurement def: "quantification of the amount of scavenger receptor class F member 1 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008277 name: Secreted frizzled-related protein 3 measurement def: "quantification of the amount of Secreted frizzled-related protein 3 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008278 name: semaphorin-3A measurement def: "quantification of the amount of semaphorin-3A in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008279 name: semaphorin-3E measurement def: "quantification of the amount of semaphorin-3E in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008280 name: serine protease 27 measurement def: "quantification of the amount of serine protease 27 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008281 name: serine/threonine-protein kinase 17B measurement def: "quantification of the amount of serine/threonine-protein kinase 17B in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008282 name: serum amyloid A-1 protein measurement def: "quantification of the amount of serum amyloid A-1 protein in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008283 name: serum amyloid P-component measurement def: "quantification of the amount of serum amyloid P-component in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008284 name: sialic acid-binding Ig-like lectin 14 measurement def: "quantification of the amount of sialic acid-binding Ig-like lectin 14 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008285 name: sialic acid-binding Ig-like lectin 6 measurement def: "quantification of the amount of sialic acid-binding Ig-like lectin 6 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008286 name: sialic acid-binding Ig-like lectin 9 measurement def: "quantification of the amount of sialic acid-binding Ig-like lectin 9 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008287 name: SLAM family member 7 measurement def: "quantification of the amount of SLAM family member 7 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008288 name: small nuclear ribonucleoprotein F measurement def: "quantification of the amount of small nuclear ribonucleoprotein F in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008289 name: SPARC-like protein 1 measurement def: "quantification of the amount of SPARC-like protein 1 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008290 name: spondin-1 measurement def: "quantification of the amount of spondin-1 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008291 name: stem Cell Factor measurement def: "quantification of the amount of stem Cell Factor in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008292 name: stem Cell Growth Factor beta measurement def: "quantification of the amount of stem Cell Growth Factor beta in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008293 name: stromal cell-derived factor 1 alpha measurement def: "quantification of the amount of stromal cell-derived factor 1 alpha in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008294 name: superoxide dismutase [Mn], mitochondrial measurement def: "quantification of the amount of superoxide dismutase [Mn], mitochondrial in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008295 name: T-lymphocyte surface antigen Ly-9 measurement def: "quantification of the amount of T-lymphocyte surface antigen Ly-9 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008296 name: tenascin measurement def: "quantification of the amount of tenascin in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008297 name: teratocarcinoma-derived growth factor 1 measurement def: "quantification of the amount of teratocarcinoma-derived growth factor 1 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008298 name: thioredoxin domain-containing protein 12 measurement def: "quantification of the amount of thioredoxin domain-containing protein 12 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008299 name: thrombospondin-2 measurement def: "quantification of the amount of thrombospondin-2 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008300 name: TNF-related apoptosis-inducing ligand measurement def: "quantification of the amount of TNF-related apoptosis-inducing ligand in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008301 name: toll-like receptor 4:Lymphocyte antigen 96 complex measurement def: "quantification of the amount of toll-like receptor 4:Lymphocyte antigen 96 complex in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008302 name: transforming growth factor-beta-induced protein ig-h3 measurement def: "quantification of the amount of transforming growth factor-beta-induced protein ig-h3 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008303 name: transmembrane glycoprotein NMB measurement def: "quantification of the amount of transmembrane glycoprotein NMB in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008304 name: trefoil factor 3 measurement def: "quantification of the amount of trefoil factor 3 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008305 name: trypsin-2 measurement def: "quantification of the amount of trypsin-2 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008306 name: tryptase beta-2 measurement def: "quantification of the amount of tryptase beta-2 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008307 name: tuberculin skin test reactivity measurement def: "quantification of the severity of the skin reaction in response to the injection of TB antigen" [] synonym: "TST reactivity measurement" EXACT [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008308 name: tumor necrosis factor beta measurement def: "quantification of the amount of tumor necrosis factor beta in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008309 name: tumor necrosis factor receptor superfamily member 19L measurement def: "quantification of the amount of tumor necrosis factor receptor superfamily member 19L in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008310 name: tumor necrosis factor receptor superfamily member EDAR measurement def: "quantification of the amount of tumor necrosis factor receptor superfamily member EDAR in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008311 name: tumor necrosis factor-inducible gene 6 protein measurement def: "quantification of the amount of tumor necrosis factor-inducible gene 6 protein in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008312 name: tyrosine-protein kinase receptor Tie-1, soluble measurement def: "quantification of the amount of tyrosine-protein kinase receptor Tie-1, soluble in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008313 name: UMP-CMP kinase measurement def: "quantification of the amount of UMP-CMP kinase in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008314 name: vascular endothelial growth factor receptor 2 measurement def: "quantification of the amount of vascular endothelial growth factor receptor 2 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008315 name: vascular endothelial growth factor receptor 3 measurement def: "quantification of the amount of vascular endothelial growth factor receptor 3 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008316 name: vaso-occlusive pain measurement def: "quantification of some aspect of vaso-occlusive pain, or vas-occlusive crises, such as severity or frequency of occurences" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008317 name: very low density lipoprotein cholesterol measurement def: "quantification of the amount of very low density lipoprotein cholesterol in a sample" [] synonym: "vLDL cholesterol measurement" EXACT [] is_a: EFO:0004529 ! lipid measurement relationship: IAO:0000136 CHEBI:18059 ! is_about lipid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008318 name: vitamin K-dependent protein C measurement def: "quantification of the amount of vitamin K-dependent protein C in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008319 name: WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2 measurement def: "quantification of the amount of WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008320 name: white matter volume measurement def: "quantification of the volume of white matter in the brain, usually through an MRI scan" [] is_a: EFO:0006930 ! brain volume measurement relationship: IAO:0000136 EFO:0001715 ! is_about volume relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008321 name: WNT1-inducible-signaling pathway protein 1 measurement def: "quantification of the amount of WNT1-inducible-signaling pathway protein 1 in a sample" [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008322 name: decreased susceptibility to bacterial infection def: "reduced likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria" [] xref: MP:0002411 is_a: HP:0002715 ! Abnormality of the immune system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008323 name: hypocretin deficiency def: "lack of production by brain cells of hypocretin, also called orexin, a neuropeptide that regulates arousal, wakefulness and appetite. Hypocretin deficiency causes the most common form of narcolepsy" [] synonym: "orexion deficiency" EXACT [] is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008324 name: response to sulfasalazine def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a sulfasalazine stimulus. Sulfasalazine is a drug used to treat rheumatoid arthritis, ulcerative colitis and Crohn's disease." [] is_a: GO:0009410 ! response to xenobiotic stimulus relationship: OBI:0000293 CHEBI:9334 ! has_input sulfasalazine property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008325 name: response to sotalol def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a sotalol stimulus. Sotalol is a beta-adrenergic receptor blocker that is used to treat heart arrhythmias" [] is_a: EFO:0007766 ! response to beta blocker property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008326 name: a disintegrin and metalloproteinase with thrombospondin motifs 5 measurement def: "quantification of the amount of a disintegrin and metalloproteinase with thrombospondin motifs 5 in a sample" [] synonym: "ADAMTS5 measurement" EXACT [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008327 name: alpha-1-antitrypsin measurement def: "quantification of the amount of alpha-1-antitrypsin in a sample" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008328 name: chronotype measurement def: "quantification of some aspect of chronotype such as ease of getting up in the morning" [] is_a: EFO:0004870 ! sleep measurement relationship: IAO:0000136 EFO:0004354 ! is_about circadian rhythm property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008329 name: facial emotion recognition measurement def: "quantification of some aspect of facial emotion recognition such as ability to differentiate between different emotions" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008330 name: fear of pain measurement def: "quantification of some aspect of fear of pain, generallly through the use of a structured questionnaire" [] xref: PMID:28701861 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008331 name: interleukin 2 measurement def: "quantification of the amount of interleukin 2 in a sample" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008332 name: interleukin 2 receptor antagonist measurement def: "quantification of the amount of interleukin 2 receptor antagonist in a sample" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008333 name: T wave amplitude def: "quantification of the magnitude of the T wave, the part of the electrocardiograph that represents the repolarisation or recovery of the ventricles" [] is_a: EFO:0004327 ! electrocardiography relationship: IAO:0000136 UBERON:0004535 ! is_about cardiovascular system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008334 name: TpTe measurement def: "quantification of the duration of the T wave from its peak to its end" [] synonym: "T weave peak to T wave end measurement" EXACT [] is_a: EFO:0004327 ! electrocardiography relationship: IAO:0000136 UBERON:0004535 ! is_about cardiovascular system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008335 name: ventricular repolarisation duration measurement def: "quantification of the duration of ventricular repolarisation or a change therein" [] is_a: EFO:0004327 ! electrocardiography relationship: IAO:0000136 UBERON:0004535 ! is_about cardiovascular system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008336 name: disease progression measurement def: "quantification of some aspect of disease progression such as speed or symptom variability. Disease progression can be quantified in a number of ways, for example as a correlated measure of progression scores from different symptom areas" [] xref: PMID:28642124 is_a: EFO:0004949 ! clinical temporal measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008337 name: psychosis predisposition measurement def: "quantification of the level of an individual's predisposition of a psychotic disorder, based on a range of psychometric measures such as Hypomanic Personality, Perceptual Aberration, Physical and Social Anhedonia (also known as Chapman’s Schizotypia scales), and Schizoidia scales. " [] xref: PMID:28525603 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008338 name: fear of severe pain measurement def: "quantification of some aspect of fear of severe pain, generallly assessed through the use of a structured questionnaire" [] xref: PMID:28701861 is_a: EFO:0008330 ! fear of pain measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008339 name: fear of medical pain measurement def: "quantification of some aspect of fear of pain related to medical treatments such as dental treatments. FoP is generallly assessed through the use of a structured questionnaire" [] xref: PMID:28701861 is_a: EFO:0008330 ! fear of pain measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008340 name: fear of minor pain measurement def: "quantification of some aspect of fear of minor pain, generally assessed through the use of a structured questionnaire" [] xref: PMID:28701861 is_a: EFO:0008330 ! fear of pain measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008341 name: snoring measurement def: "quantification of some aspect of snoring such as frequency or severity" [] xref: PMID:28604731 is_a: EFO:0004870 ! sleep measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008342 name: parental emotion expression measurmement def: "quantification of some aspect parental emotion expression, such as the level of warmth expressed by a parent towards a child or the amount of criticism directed by a parent at a child. Emotion expression is evaluated by qualified professionals on the basis of parental responses during the clinical assessment" [] xref: PMID:18846501 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008343 name: sex interaction measurement def: "quantification of the interaction between some phenotype and biological sex" [] xref: PMID:21253498 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008344 name: response to placebo def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a placebo stimulus. A placebo is a substance or treatment with no active therapeutic effect and which may be given to a person in order to deceive the recipient into thinking that it is an active treatment. " [] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008345 name: response to duloxetine def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an duloxetine stimulus. Duloxetine is a medication mostly used for major depressive disorder, generalized anxiety disorder, fibromyalgia and neuropathic pain." [] is_a: EFO:0006325 ! response to serotonin-norephinephrine reuptake inhibitor property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008346 name: family history of upper gastrointestinal cancer def: "A reported family history of upper gastrointestinal cancer in one or more family members." [] synonym: "upper gastrointestinal cancer family history" EXACT [] xref: PMID:28680059 is_a: EFO:0009640 ! family history of cancer property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008347 name: response to trastuzumab def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a trastuzumab stimulus. Trastuzumab, sold under the brand name Herceptin among others, is a monoclonal antibody used to treat breast cancer." [] is_a: GO:0097327 ! response to antineoplastic agent property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008348 name: response to ranibizumab def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a randibizumab stimulus. Randibizumab is a monoclonal antibody fragment used to treat the \"wet\" type of age-related macular degeneration." [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008349 name: thiazide-induced hyponatremia def: "A type of hyponatremia related to ingestion of the diuretic thiazide" [] is_a: HP:0002902 ! Hyponatremia property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008350 name: alpha-linoleic acid measurement def: "quantification of the amount of alpha-linoleic acid in a sample" [] is_a: EFO:0005110 ! fatty acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008351 name: amyloid deposition measurement def: "quantification of some aspect of the deposition of amyloid proteins in an organ" [] is_a: EFO:0001444 ! measurement property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008352 name: C9orf72 mutation status def: "quantification of the presence or absence of C9orf72 mutations in a tissue sample or an individual" [] is_a: EFO:0001444 ! measurement property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008353 name: cellular adhesion molecule measurement def: "quantification of the amount cellular adhesion molecule in a sample" [] synonym: "CAM measurement" EXACT [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008354 name: cognitive function measurement def: "quantification of some aspect of cognitive function" [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:0003925 ! is_about cognition property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008355 name: dietary heme iron intake measurement def: "quantification of the amount of heme iron acquired through dietary intake" [] xref: PMID:23386860 is_a: EFO:0008111 ! diet measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008356 name: dihomo-gamma-linoleic acid measurement def: "quantification of the amount of dihomo-gamma-linoleic acid in a sample" [] is_a: EFO:0005110 ! fatty acid measurement property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008357 name: docosatetranoic acid measurement def: "quantification of the amount of docosatetranoic acid in a sample" [] is_a: EFO:0005110 ! fatty acid measurement property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008358 name: dorsolateral prefrontal cortex functional measurement def: "quantification of the function of the dorsolateral prefrontal cortex, an area of the prefrontal cortex strongly implicated in schizophrenia." [] is_a: EFO:0007849 ! functional brain measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008359 name: eicosadienoic acid measurement def: "quantification of the amount of eicosadienoic acid in a sample" [] is_a: EFO:0005110 ! fatty acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008360 name: environmental exposure measurement def: "quantification of some aspect of exposure to an environmental factor such as pollutants" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008361 name: environmental tobacco smoke exposure measurement def: "quantification of some aspect of environmental tobacco smoke exposure" [] synonym: "second-hand tobacco smoke exposure measurement" EXACT [] xref: PMID:28738859 is_a: EFO:0008360 ! environmental exposure measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008362 name: farm exposure measurement def: "quantification of some aspect of an individual's exposure to a farm environment such as frequeny or duration. Farm exposure may have a beneficial or protective effect against certain conditions such as asthma" [] xref: PMID:21211648 is_a: EFO:0008360 ! environmental exposure measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008363 name: gamma-linoleic acid measurement def: "quantification of the amount of gamma-linoleic acid in a sample" [] is_a: EFO:0005110 ! fatty acid measurement property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008364 name: generational effect measurement def: "quantification of the effect of belonging to a specific generation on a genotype effect" [] xref: PMID:23942779 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008365 name: heart amyloid deposition measurement def: "quantification of some aspect of the deposition of amyloid proteins in the heart" [] xref: PMID:28679651 is_a: EFO:0004311 ! heart function measurement is_a: EFO:0008351 ! amyloid deposition measurement relationship: IAO:0000136 UBERON:0000948 ! is_about heart property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008366 name: IgG isotype profile measurement def: "quantification of immunoglobulin G in a sample as light chain or heavy chain or kappy type or lambda type" [] xref: PMID:28679651 is_a: EFO:0004565 ! serum IgG measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008367 name: infant cerebrospinal fluid volume measurement def: "quantification of the volume of cerebrospinal fluid in an infant's brain" [] xref: PMID:28763065 is_a: EFO:0008080 ! cerebrospinal fluid volume measurement relationship: IAO:0000136 UBERON:0001359 ! is_about cerebrospinal fluid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008368 name: infant grey matter volume measurement def: "quantification of the volume of grey matter in an infant's brain" [] xref: PMID:28763065 is_a: EFO:0005420 ! grey matter volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008369 name: infant intracranial volume measurement def: "quantification of an infant's intracranial volume" [] xref: PMID:28763065 is_a: EFO:0004886 ! intracranial volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008370 name: infant white matter volume measurement def: "quantification of the volume of white matter in an infant's brain" [] xref: PMID:28763065 is_a: EFO:0008320 ! white matter volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008371 name: kidney amyloid deposition measurement def: "quantification of some aspect of the deposition of amyloid proteins in the kidney" [] xref: PMID:28679651 is_a: EFO:0008351 ! amyloid deposition measurement relationship: IAO:0000136 UBERON:0002113 ! is_about kidney property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008372 name: laterality measurement def: "quantification of some aspect of laterality such as scoring concepts as unilateral or bilateral" [] xref: PMID:28775256 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008373 name: left ventricular ejection fraction measurement def: "quantification of the volumetric fraction of blood pumped out of the left ventricle" [] xref: PMID:28763429 is_a: EFO:0005527 ! ejection fraction measurement relationship: IAO:0000136 UBERON:0002084 ! is_about heart left ventricle property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008374 name: liver amyloid deposition measurement def: "quantification of some aspect of the deposition of amyloid proteins in the liver" [] xref: PMID:28679651 is_a: EFO:0008351 ! amyloid deposition measurement relationship: IAO:0000136 UBERON:0002107 ! is_about liver property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008375 name: macula measurement def: "quantification of some aspect of the macula" [] xref: PMID:28835685 is_a: EFO:0004731 ! eye measurement relationship: IAO:0000136 UBERON:0000970 ! is_about eye property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008376 name: mosquito bite measurement def: "quantification of some aspect of mosquito bites" [] xref: PMID:28199695 is_a: EFO:0001444 ! measurement property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008377 name: mosquito bite reaction itch intensity measurement def: "quanitifcation of the itch intensity of a mosquito bite reaction, generally through the use of a standardised questionnaire" [] xref: PMID:28199695 is_a: EFO:0008376 ! mosquito bite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008378 name: mosquito bite reaction size measurement def: "quantification of the size of a mosquito bite reaction, generally through the use of a standardised questionnaire" [] xref: PMID:28199695 is_a: EFO:0008376 ! mosquito bite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008379 name: P wave terminal force measurement def: "quantification of P wave terminal force, the product of the duration and the amplitude of the terminal negative part of the P-wave" [] is_a: EFO:0004327 ! electrocardiography property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008380 name: perceived unattractiveness to mosquitos measurement def: "quantification of an individual's perceived unattractiveness to mosquitos, generally through the use of a standardised questionnaire" [] xref: PMID:28199695 is_a: EFO:0008376 ! mosquito bite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008381 name: total cortical area measurement def: "quantification of the surface area of the cerebral cortex, the largest region of the mammalian brain" [] xref: PMID:22343285 is_a: EFO:0010736 ! cortical surface area measurement relationship: IAO:0000136 UBERON:0000956 ! is_about cerebral cortex property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008382 name: TP53 mutation status def: "quantification of some aspect of TP53 mutation, such as the number of accummulated mutations, determined either through immunohistochemistry or DNA sequencing" [] xref: PMID:28179588 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008383 name: treatment outcome measurement def: "quantification of some treatment outcome" [] is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008384 name: tumor necrosis factor receptor II measurement def: "quantification of the amount of tumor necrosis factor receptor II in a sample" [] synonym: "TNF-receptor-II measurement" EXACT [] is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008385 name: visual acuity measurement def: "quantification of visual acuity" [] xref: PMID:28835685 is_a: EFO:0004731 ! eye measurement relationship: IAO:0000136 UBERON:0000970 ! is_about eye property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008386 name: body odor measurement def: "Quantification of body odor, a perceived unpleasant smell given off by the body" [] synonym: "body odour measurement" EXACT [] xref: PMID:28753643 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008387 name: caudate nucleus measurement def: "Quantification of some aspect of the caudate nucleus, part of the basal ganglia of the brain, primarily associated with voluntary movement and reward." [] synonym: "caudate measurement" EXACT [] xref: PMID:28927378 xref: Wikipedia:Caudate_nucleus is_a: EFO:0004464 ! brain measurement relationship: IAO:0000136 UBERON:0001873 ! is_about caudate nucleus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008388 name: gamma wave measurement def: "Quantification of the wave-like oscillations in the alpha band (8-13 Hz) of electric potential between parts of the brain" [] xref: PMID:28922980 is_a: EFO:0004464 ! brain measurement is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0003925 ! is_about cognition relationship: IAO:0000136 MONDO:0005090 ! is_about schizophrenia property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0008389 name: putamen measurement def: "Quantification of some aspect of the putamen, part of the basal ganglia of the brain, primarily associated with voluntary movement and reward." [] xref: PMID:28927378 xref: Wikipedia:Putamen is_a: EFO:0004464 ! brain measurement relationship: IAO:0000136 UBERON:0005383 ! is_about caudate-putamen property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008390 name: prothrombin time measurement def: "Quantification of the clotting tendency of blood plasma following the addition of tissue factor. Prothrombin time requires the presence of factors I, II, V, VII, and X. It measures the extrinsic pathway of coagulation and can be used in conjunction with the activated partial thromboplastin time (aPTT) which measures the intrinsic pathway. It is used as a screening test and can be affected by vitamin K deficiency, liver disease, warfarin therapy or intestinal problems." [] synonym: "International normalized ratio of prothrombin time measurement" EXACT [] synonym: "ProTime INR measurement" EXACT [] synonym: "PT/INR measurement" EXACT [] xref: PMID:22703881 xref: Wikipedia:Prothrombin_time is_a: EFO:0004503 ! hematological measurement relationship: IAO:0000136 EFO:0001421 ! is_about liver disease relationship: IAO:0000136 UBERON:0001969 ! is_about blood plasma property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008391 name: erythropoetin measurement def: "Quantification of the glycoprotein erythropoetin typically in the blood" [] xref: PMID:18464913 is_a: CHEBI:24431 ! chemical entity is_a: EFO:0004555 ! glycoprotein measurement relationship: has_role EFO:0001824 ! hormone role property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008392 name: triiodothyronine measurement def: "Quantification of the thyroid hormone triiodothyronine (T3) typically in the blood, usually as an indicator of thyroid function" [] synonym: "T3 measurement" EXACT [] xref: PMID:18464913 is_a: CHEBI:24431 ! chemical entity is_a: EFO:0004730 ! hormone measurement is_a: EFO:0005134 ! amino acid measurement relationship: has_role EFO:0001824 ! hormone role relationship: IAO:0000136 CHEBI:18258 ! is_about 3,3',5-triiodo-L-thyronine relationship: IAO:0000136 UBERON:0002046 ! is_about thyroid gland property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008393 name: reaction time measurement def: "In psychology, the quantification of the interval of time between the presentation of a stimulus to a subject and the beginning of the subject's response to that stimulus. Several categories of reaction time, such as simple reaction time and choice reaction time, have been established and studied in experimental psychology to assess general alertness and motor speed." [] xref: PMID:28746715 is_a: EFO:0008354 ! cognitive function measurement relationship: IAO:0000136 EFO:0003925 ! is_about cognition property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008394 name: verbal-numerical reasoning measurement def: "Quantification of verbal and/or numerical reasoning, typically based on a written or multiple choice test" [] xref: PMID:28746715 is_a: EFO:0008354 ! cognitive function measurement relationship: IAO:0000136 EFO:0003925 ! is_about cognition property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008395 name: response to darapladib def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of darapladib stimulus. Darapladib is a lipoprotein-associated phospholipase A2 inhibitor, developed for the treatment of cardiovascular disease." [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008396 name: response to reward def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a reward stimulus such as food or recreational drugs." [] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008397 name: response to disappointment def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of anticipating a reward stimulus such as food or recreational drugs, which is subsequently withheld." [] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008398 name: T wave morphology measurement def: "Quantification of the morphology of the T wave, the part of the electrocardiograph that represents the repolarisation or recovery of the ventricles" [] xref: PMID:28800628 is_a: EFO:0004327 ! electrocardiography relationship: IAO:0000136 UBERON:0000948 ! is_about heart property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0008399 name: mean fractional anisotropy measurement def: "quantification of some aspects of brain connectivity that can be derived from the diffusion tensor imaging (DTI) dataset." [] xref: PMID:28924203 is_a: EFO:0006848 ! mental or behavioural disorder biomarker is_a: EFO:0006930 ! brain volume measurement relationship: IAO:0000136 EFO:0003925 ! is_about cognition relationship: IAO:0000136 MONDO:0005090 ! is_about schizophrenia relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0008400 name: susceptibility to chickenpox measurement def: "Quantification of an individual's susceptibility to chickenpox, resulting from results from primary Varicella zoster virus infection, typically occurring in childhood." [] synonym: "susceptibility to varicella zoster virus infection measurement" EXACT [] xref: PMID:28928442 is_a: EFO:0006843 ! infectious disease biomarker is_a: EFO:0008422 ! susceptibility to infectious disease measurement relationship: IAO:0000136 EFO:0000544 ! is_about infection relationship: IAO:0000136 EFO:0007204 ! is_about chickenpox property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008401 name: susceptibility to shingles measurement def: "Quantification of an individual's susceptibility to shingles, a pinaful rash resultin from reactivation of latent Varicella zoster virus infection within a dorsal root ganglion, typically occuring in later life." [] synonym: "susceptibility to herpes zoster measurement" EXACT [] xref: PMID:28928442 is_a: EFO:0006843 ! infectious disease biomarker is_a: EFO:0008422 ! susceptibility to infectious disease measurement relationship: IAO:0000136 EFO:0000544 ! is_about infection relationship: IAO:0000136 EFO:0006510 ! is_about Herpes Zoster property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008402 name: susceptibility to cold sores measurement def: "Quantification of an individual's susceptibility to cold sores, vesicular lesions of the lips and mouth caused by another member of the human herpesvirus family, herpes simplex virus type 1 (HSV-1)" [] xref: PMID:28928442 is_a: EFO:0006843 ! infectious disease biomarker is_a: EFO:0008422 ! susceptibility to infectious disease measurement relationship: IAO:0000136 EFO:0000544 ! is_about infection relationship: IAO:0000136 EFO:1002022 ! is_about Herpes simplex infection property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008403 name: susceptibility to mononucleosis measurement def: "Quantification of an individual's susceptibility to infectious mononucleosis, a syndrome of fever, tonsillitis, swollen lymph nodes, and persistent fatigue resulting from primary infection with the Epstein-Barr virus." [] synonym: "susceptibility to glandular fever measurement" EXACT [] synonym: "susceptibility to infectious mononucleosis measurement" EXACT [] xref: PMID:28928442 is_a: EFO:0006843 ! infectious disease biomarker is_a: EFO:0008422 ! susceptibility to infectious disease measurement relationship: IAO:0000136 EFO:0000544 ! is_about infection relationship: IAO:0000136 EFO:0007326 ! is_about infectious mononucleosis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008404 name: susceptibility to mumps measurement def: "Quantification of an individual's susceptibility to mumps, a syndrome of low-grade fever, malaise, headache, and characteristic swelling of the parotid glands that is caused by the mumps virus" [] xref: PMID:28928442 is_a: EFO:0006843 ! infectious disease biomarker is_a: EFO:0008422 ! susceptibility to infectious disease measurement relationship: IAO:0000136 EFO:0000544 ! is_about infection relationship: IAO:0000136 EFO:0007383 ! is_about Mumps virus infectious disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008405 name: susceptibility to hepatitis B infection measurement def: "Quantification of an individual's susceptibility to hepatitis B" [] xref: PMID:28928442 is_a: EFO:0006843 ! infectious disease biomarker is_a: EFO:0008422 ! susceptibility to infectious disease measurement relationship: IAO:0000136 EFO:0000544 ! is_about infection relationship: IAO:0000136 EFO:0004197 ! is_about hepatitis B virus infection property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008406 name: susceptibility to plantar warts measurement def: "Quantification of an individual's susceptibility to plantar warts" [] xref: PMID:28928442 is_a: EFO:0006843 ! infectious disease biomarker is_a: EFO:0008422 ! susceptibility to infectious disease measurement relationship: IAO:0000136 EFO:0000544 ! is_about infection relationship: IAO:0000136 EFO:1002023 ! is_about plantar wart property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008407 name: susceptibility to Mycobacterium tuberculosis infection measurement def: "Quantification of an individual's susceptibility to infection with Mycobacterium tuberculosis" [] xref: PMID:28928442 is_a: EFO:0008422 ! susceptibility to infectious disease measurement relationship: IAO:0000136 EFO:0000544 ! is_about infection property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008408 name: susceptibility to strep throat measurement def: "Quantification of an individual's susceptibility to throat symptoms and fever caused by Group A Streptococcal infection" [] xref: PMID:28928442 is_a: EFO:0006843 ! infectious disease biomarker is_a: EFO:0008422 ! susceptibility to infectious disease measurement relationship: IAO:0000136 EFO:0000544 ! is_about infection relationship: IAO:0000136 EFO:1002024 ! is_about streptococcal pharyngitis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008409 name: susceptibility to scarlet fever measurement def: "Quantification of an individual's susceptibility to scarlet fever, a syndrome of rash, sore throat and fever caused by Group A Streptococcal infection" [] xref: PMID:28928442 is_a: EFO:0006841 ! respiratory disease biomarker is_a: EFO:0006843 ! infectious disease biomarker is_a: EFO:0008422 ! susceptibility to infectious disease measurement relationship: IAO:0000136 EFO:0000544 ! is_about infection relationship: IAO:0000136 EFO:0007477 ! is_about scarlet fever property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008410 name: susceptibility to pneumonia measurement def: "Quantification of an individual's susceptibility to pneumonia, an infection of the lung tissue, typically by bacteria or viruses" [] xref: PMID:28928442 is_a: EFO:0006841 ! respiratory disease biomarker is_a: EFO:0006843 ! infectious disease biomarker is_a: EFO:0008422 ! susceptibility to infectious disease measurement relationship: IAO:0000136 EFO:0000544 ! is_about infection relationship: IAO:0000136 EFO:0003106 ! is_about pneumonia property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008411 name: susceptibility to bacterial meningitis measurement def: "Quantification of an individual's susceptibility to bacterial meningitis" [] xref: PMID:28928442 is_a: EFO:0006843 ! infectious disease biomarker is_a: EFO:0008422 ! susceptibility to infectious disease measurement relationship: IAO:0000136 EFO:0000544 ! is_about infection relationship: IAO:0000136 EFO:1000831 ! is_about bacterial meningitis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008412 name: susceptibility to vaginal yeast infection measurement def: "Quantification of an individual's susceptibility to vaginal yeast infection or thrush, typically by Candida albicans or other Candida species." [] synonym: "susceptibility to Candida vulvovaginitis measurement" EXACT [] synonym: "susceptibility to thrush measurement" EXACT [] xref: PMID:28928442 is_a: EFO:0006843 ! infectious disease biomarker is_a: EFO:0008422 ! susceptibility to infectious disease measurement relationship: IAO:0000136 EFO:0000544 ! is_about infection relationship: IAO:0000136 EFO:0007543 ! is_about vulvovaginal candidiasis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008413 name: susceptibility to urinary tract infection measurement def: "Quantification of an individual's susceptibility to infactions of the urinary tract, typically caused by Escherichia coli, Staphylococcus saprophyticus, or other fecal flora." [] synonym: "susceptibility to cystitis" EXACT [] xref: PMID:28928442 is_a: EFO:0006843 ! infectious disease biomarker is_a: EFO:0008422 ! susceptibility to infectious disease measurement relationship: IAO:0000136 EFO:0000544 ! is_about infection relationship: IAO:0000136 EFO:0003103 ! is_about urinary tract infection property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008414 name: susceptibility to measles measurement def: "Quantification of an individual's susceptibility to measles" [] xref: PMID:28928442 is_a: EFO:0006843 ! infectious disease biomarker is_a: EFO:0008422 ! susceptibility to infectious disease measurement relationship: IAO:0000136 EFO:0000544 ! is_about infection relationship: IAO:0000136 EFO:1002025 ! is_about measles property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008415 name: susceptibility to hepatitis A infection measurement def: "Quantification of an individual's susceptibility to hepatitis A" [] xref: PMID:28928442 is_a: EFO:0006843 ! infectious disease biomarker is_a: EFO:0008422 ! susceptibility to infectious disease measurement relationship: IAO:0000136 EFO:0000544 ! is_about infection relationship: IAO:0000136 EFO:0007305 ! is_about hepatitis A virus infection property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008416 name: susceptibility to rheumatic fever measurement def: "Quantification of an individual's susceptibility to rheumatic fever, arising as a complication of primary infection with Group A Streptococcus" [] xref: PMID:28928442 is_a: EFO:0008422 ! susceptibility to infectious disease measurement relationship: IAO:0000136 EFO:0000544 ! is_about infection relationship: IAO:0000136 EFO:1001160 ! is_about rheumatic fever property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008417 name: susceptibility to common cold measurement def: "Quantification of an individual's susceptibility to the common cold" [] xref: PMID:28928442 is_a: EFO:0006841 ! respiratory disease biomarker is_a: EFO:0008422 ! susceptibility to infectious disease measurement relationship: IAO:0000136 EFO:0000544 ! is_about infection relationship: IAO:0000136 EFO:0007214 ! is_about common cold property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008418 name: susceptibility to rubella infection measurement def: "Quantification of an individual's susceptibility to shingles" [] xref: PMID:28928442 is_a: EFO:0006843 ! infectious disease biomarker is_a: EFO:0008422 ! susceptibility to infectious disease measurement relationship: IAO:0000136 EFO:0000544 ! is_about infection relationship: IAO:0000136 EFO:1002026 ! is_about rubella property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008419 name: susceptibility to chronic sinus infection measurement def: "Quantification of an individual's susceptibility to chronic sinus infections, requiring surgery." [] xref: PMID:28928442 is_a: EFO:0006841 ! respiratory disease biomarker is_a: EFO:0008422 ! susceptibility to infectious disease measurement relationship: IAO:0000136 EFO:0000544 ! is_about infection relationship: IAO:0000136 EFO:0007486 ! is_about sinusitis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008420 name: parietal cortex measurement def: "quantification of the parietal cortex, a part of the brain situated in the medial aspect of the cerebral cortex" [] xref: PMID:28924203 is_a: EFO:0006848 ! mental or behavioural disorder biomarker is_a: EFO:0006930 ! brain volume measurement relationship: IAO:0000136 EFO:0003925 ! is_about cognition relationship: IAO:0000136 MONDO:0005090 ! is_about schizophrenia relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0008421 name: non-alcoholic fatty liver disease severity measurement def: "Quantification of the severity of non-alcoholic fatty liver disease, typically by a histological grading." [] xref: PMID:28918882 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:0003095 ! is_about non-alcoholic fatty liver disease relationship: IAO:0000136 UBERON:0002107 ! is_about liver property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008422 name: susceptibility to infectious disease measurement is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0008423 name: IgG monogalactosylation measurement def: "Quantification of monogalactosylated N-glycans of IgG in a biological sample, typically serum" [] synonym: "IgG mono-galactosylation measurement" EXACT [] xref: PMID:28878392 is_a: EFO:0005193 ! serum IgG glycosylation measurement relationship: IAO:0000136 CHEBI:18154 ! is_about polysaccharide relationship: IAO:0000136 GO:0006487 ! is_about protein N-linked glycosylation property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008424 name: IgG digalactosylation measurement def: "Quantification of digalactosylated N-glycans of IgG in a biological sample, typically serum" [] synonym: "IgG di-galactosylation measurement" EXACT [] xref: PMID:28878392 is_a: EFO:0005193 ! serum IgG glycosylation measurement relationship: IAO:0000136 CHEBI:18154 ! is_about polysaccharide relationship: IAO:0000136 GO:0006487 ! is_about protein N-linked glycosylation property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008425 name: IgG galactosylation measurement def: "Quantification of galactosylated N-glycans of IgG in a biological sample, typically serum" [] xref: PMID:28878392 is_a: EFO:0005193 ! serum IgG glycosylation measurement relationship: IAO:0000136 CHEBI:18154 ! is_about polysaccharide relationship: IAO:0000136 GO:0006487 ! is_about protein N-linked glycosylation property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008426 name: IgG bisecting N-acetyl glucosamine measurement def: "Quantification of bisecting N-acetyl glucosamine-containing N-glycans of IgG in a biological sample, typically serum" [] synonym: "IgG GlcNAc measurement" EXACT [] xref: PMID:28878392 is_a: EFO:0005193 ! serum IgG glycosylation measurement relationship: IAO:0000136 CHEBI:18154 ! is_about polysaccharide relationship: IAO:0000136 GO:0006487 ! is_about protein N-linked glycosylation property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008427 name: IgG fucosylation measurement def: "Quantification of fucosylated N-glycans of IgG in a biological sample, typically serum" [] xref: PMID:28878392 is_a: EFO:0005193 ! serum IgG glycosylation measurement relationship: IAO:0000136 CHEBI:18154 ! is_about polysaccharide relationship: IAO:0000136 GO:0006487 ! is_about protein N-linked glycosylation property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008428 name: IgG sialylation measurement def: "Quantification of sialylated N-glycans of IgG in a biological sample, typically serum" [] xref: PMID:28878392 is_a: EFO:0005193 ! serum IgG glycosylation measurement relationship: IAO:0000136 CHEBI:18154 ! is_about polysaccharide relationship: IAO:0000136 GO:0006487 ! is_about protein N-linked glycosylation property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008429 name: IgG disialylation measurement def: "Quantification of disialylated N-glycans of IgG in a biological sample, typically serum" [] synonym: "IgG di-sialylation measurement" EXACT [] xref: PMID:28878392 is_a: EFO:0005193 ! serum IgG glycosylation measurement relationship: IAO:0000136 CHEBI:18154 ! is_about polysaccharide relationship: IAO:0000136 GO:0006487 ! is_about protein N-linked glycosylation property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008430 name: IgG monosialylation measurement def: "Quantification of monosialylated N-glycans of IgG in a biological sample, typically serum" [] synonym: "IgG mono-sialylation measurement" EXACT [] xref: PMID:28878392 is_a: EFO:0005193 ! serum IgG glycosylation measurement relationship: IAO:0000136 CHEBI:18154 ! is_about polysaccharide relationship: IAO:0000136 GO:0006487 ! is_about protein N-linked glycosylation property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008431 name: maximal voluntary ventilation def: "Qunatification of the maximum volume of air that an organism can breathe in and out during a specified period of time, often 1 minute." [] xref: MedDRA:10026958 xref: PMID:29095316 is_a: EFO:0003892 ! pulmonary function measurement relationship: IAO:0000136 HP:0002086 ! is_about Abnormality of the respiratory system relationship: IAO:0000136 UBERON:0002048 ! is_about lung property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0008432 name: lipoprotein-associated phospholipase A(2) change measurement def: "Quantification of the rate of change in lipoprotein-associated phospholipase A(2) over the course of time, used as an indicator of risk of cardiovascular events, and a target for certain cardiovascular drugs." [] xref: PMID:28753643 is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease relationship: IAO:0000136 UBERON:0004535 ! is_about cardiovascular system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008433 name: pursuit maintenance gain measurement def: "Quantification of the accuracy of matching eye velocity to target velocity during sustained pursuit, typically measured using a video-based eye tracker. Abnormalities of this system have been observed in psychiatric disoreders such as aschizophrenia." [] xref: PMID:29064472 xref: Wikipedia:Smooth_pursuit is_a: EFO:0006848 ! mental or behavioural disorder biomarker is_a: EFO:0007699 ! eye movement measurement relationship: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder relationship: IAO:0000136 EFO:0004362 ! is_about psychomotor performance relationship: IAO:0000136 UBERON:0000970 ! is_about eye property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008434 name: initial pursuit acceleration def: "Quantification of the rate of change of eye velocity during the first 100ms of pursuit, typically measured using a video-based eye-tracker. Abnormalities of this sysmtem have been observed in psychiatric disorders such as schizophrenia." [] xref: PMID:29064472 xref: Wikipedia:Smooth_pursuit is_a: EFO:0006848 ! mental or behavioural disorder biomarker is_a: EFO:0007699 ! eye movement measurement relationship: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder relationship: IAO:0000136 EFO:0004362 ! is_about psychomotor performance relationship: IAO:0000136 UBERON:0000970 ! is_about eye property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008435 name: gestational weight gain measurement def: "Quantification of the amount of weight gained by a woman during pregnancy." [] xref: PMID:28990592 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008436 name: late gestational weight gain def: "Quantification of the amount of weight gained by a woman during late pregnancy." [] xref: PMID:28990592 is_a: EFO:0008435 ! gestational weight gain measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008437 name: early gestational weight gain def: "Quantification of the amount of weight gained by a woman during early pregnancy." [] xref: PMID:28990592 is_a: EFO:0008435 ! gestational weight gain measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008438 name: growth hormone measurement def: "Quantification of the amount of growth hormone in a sample, typically blood." [] xref: PMID:29065906 is_a: CHEBI:24431 ! chemical entity is_a: EFO:0004730 ! hormone measurement relationship: has_role CHEBI:37845 ! growth hormone relationship: IAO:0000136 CHEBI:24621 ! is_about hormone relationship: IAO:0000136 UBERON:0000949 ! is_about endocrine system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008439 name: single cell nucleic acid sequencing protocol def: "A protocol describing the processes performed and equipment used to determine the order of nucleotide bases in a nucleic acid sample from a single cell specimen" [] is_a: EFO:0004170 ! nucleic acid sequencing protocol property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008440 name: tag based single cell RNA sequencing def: "Single cell sequencing process using an approach where only a short fragment (tag) at a defined position in each RNA molecule is sequenced" [] is_a: EFO:0008913 ! single-cell RNA sequencing property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008441 name: full length single cell RNA sequencing def: "Single cell sequencing process using an approach where the full length of each RNA molecule is sequenced" [] is_a: EFO:0008913 ! single-cell RNA sequencing property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008442 name: Smart-seq2 protocol def: "The standard protocol supplied by Illumina for single cell nucleic acid sequencing" [] is_a: EFO:0008439 ! single cell nucleic acid sequencing protocol property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008443 name: 10x sequencing protocol def: "The standard protocol supplied by 10x Genomics for single cell nucleic acid sequencing" [] is_a: EFO:0008439 ! single cell nucleic acid sequencing protocol property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008444 name: Drop-seq sequencing protocol def: "The standard protocol defined by Macosko et al for isolating and sequencing the nucleic acid material from single cell specimens" [] xref: PMID:26000488 is_a: EFO:0008439 ! single cell nucleic acid sequencing protocol property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008446 name: platelet-to-lymphocyte ratio def: "The ratio of platelet count to lymphocyte count, quantified in a blood sample. Both neutrophil-to-lymphocyte ratio and platelet-to-lymphocyte ratio have been proposed as biomarkers for the diagnosis or prognostic prediction of disease." [] synonym: "platelet:lymphocyte ratio" EXACT [] xref: PMID:29066854 is_a: EFO:0004503 ! hematological measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008447 name: neutrophil-to-lymphocyte ratio def: "The ratio of neutrophil count to lymphocyte count, quantified in a blood sample. Both neutrophil-to-lymphocyte ratio and platelet-to-lymphocyte ratio have been proposed as biomarkers for the diagnosis or prognostic prediction of disease." [] synonym: "neutrophil:lymphocyte ratio" EXACT [] xref: PMID:29066854 is_a: EFO:0004503 ! hematological measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008449 name: magnesium:creatinine ratio measurement def: "quantification of the ratio of magnesium to creatinine in a sample, typically a urine sample, a proxy measure for Mg2+ homeostasis" [] xref: PMID:29093028 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 CHEBI:25107 ! is_about magnesium atom relationship: IAO:0000136 GO:0010960 ! is_about magnesium ion homeostasis relationship: IAO:0000136 UBERON:0002113 ! is_about kidney property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0008450 name: fractional excretion of magnesium measurement def: "quantification of fractional excretion of magnesium based on the calculation of serum and urinary levels of magneiusm and creatinine. Used as a marker of renal tubular function." [] synonym: "FEMg" EXACT [] xref: PMID:29093028 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 CHEBI:25107 ! is_about magnesium atom relationship: IAO:0000136 GO:0010960 ! is_about magnesium ion homeostasis relationship: IAO:0000136 UBERON:0002113 ! is_about kidney property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0008451 name: activities of daily living score measurement def: "quantification of ability to perform daily living activities independently. A proxy to assess functional status in the elderly." [] synonym: "ADL" EXACT [] synonym: "Katz ADL index" EXACT [] xref: PMID:29158487 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0008452 name: mid-arm muscle circumference measurement def: "quatification of the muscle circumference of the mid arm. A proxy for muscle mass of the arm." [] synonym: "MAMC" EXACT [] xref: PMID:29158487 is_a: EFO:0004515 ! muscle measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0008453 name: calf circumference measurement def: "quatification of the muscle circumference of the calf. A proxy for muscle mass of the leg." [] synonym: "CC" EXACT [] xref: PMID:29158487 is_a: EFO:0004515 ! muscle measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0008454 name: short physical performance battery score measurement def: "quantification of physical performance. A proxy to assess lower extremity function in the elderly." [] synonym: "SPPB" EXACT [] xref: PMID:29158487 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0008455 name: sleep apnea measurement during REM sleep def: "A pause in breathing or shallow breaths during REM sleep." [] is_a: EFO:0007817 ! sleep apnea measurement relationship: IAO:0000136 GO:0042747 ! is_about circadian sleep/wake cycle, REM sleep property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0008456 name: sleep apnea measurement during non-REM sleep def: "A pause in breathing or shallow breaths during non-REM sleep." [] is_a: EFO:0007817 ! sleep apnea measurement relationship: IAO:0000136 GO:0042748 ! is_about circadian sleep/wake cycle, non-REM sleep property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0008457 name: cannabis dependence measurement def: "Quantification of the degree to which an individual is dependent on cannabis, for example based on the number of DSM-IV criteria met for cannabis dependence." [] xref: PMID:29112194 is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 CHEBI:67194 ! is_about cannabinoid relationship: IAO:0000136 EFO:0007191 ! is_about cannabis dependence property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008458 name: tacrolimus measurement def: "Quantification of the amount of tacrolimus in a sample. Tacrolimus (TAC) is a common immunosuppressive agent that potently inhibits T-cell function and proliferation through inhibition of calcineurin by binding to FKB12." [] synonym: "tacrolimus hydrate measurement" EXACT [] xref: PMID:29160300 is_a: CHEBI:61057 ! tacrolimus hydrate is_a: EFO:0001444 ! measurement relationship: IAO:0000136 CHEBI:35705 ! is_about immunosuppressive agent property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0008459 name: response to mepolizumab def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of mepolizumab stimulus. Mepolizumab is a humanized monoclonal antibody used for the treatment of severe eosinophilic asthma." [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0008460 name: colorectal health def: "The characteristics of a person’s colorectal health, assessed for example by colonoscopy." [] is_a: EFO:0007652 ! health trait property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0008462 name: pregnancy induced alloimmunization def: "An immune response to foreign (donor) antigens due to fetomaternal hemorrhage (ie, transplacental passage of fetal erythrocytes) associated with delivery, trauma, spontaneous or induced abortion, ectopic pregnancy, or invasive obstetric procedures." [] synonym: "maternal alloimmunization" EXACT [] synonym: "Rh-isoimmunization" EXACT [] is_a: EFO:0006804 ! alloimmunization property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0008463 name: glucagon measurement def: "The quantification of glucagon, a hormone involved in glucose homeostasis." [] xref: PMID:29093273 is_a: EFO:0004730 ! hormone measurement is_a: EFO:0004747 ! protein measurement is_a: EFO:0006842 ! diabetes mellitus biomarker relationship: IAO:0000136 EFO:0000400 ! is_about diabetes mellitus relationship: IAO:0000136 GO:0042593 ! is_about glucose homeostasis relationship: IAO:0000136 UBERON:0000016 ! is_about endocrine pancreas property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0008464 name: glucose-dependent insulinotropic peptide measurement def: "The quantification of glucose-dependent insulinotropic peptide, an incretin hormone secreted in response to nutrient stimulation that acts to increase insulin secretion." [] xref: PMID:29093273 is_a: EFO:0004730 ! hormone measurement is_a: EFO:0004747 ! protein measurement is_a: EFO:0006842 ! diabetes mellitus biomarker relationship: IAO:0000136 EFO:0000400 ! is_about diabetes mellitus relationship: IAO:0000136 GO:0042593 ! is_about glucose homeostasis relationship: IAO:0000136 UBERON:0000949 ! is_about endocrine system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0008465 name: glucagon-like peptide-1 measurement def: "The quantification of glucagon-like peptide 1, an incretin hormone secreted in response to nutrient stimulation that acts to increase insulin secretion." [] xref: PMID:29093273 is_a: EFO:0004730 ! hormone measurement is_a: EFO:0004747 ! protein measurement is_a: EFO:0006842 ! diabetes mellitus biomarker relationship: IAO:0000136 EFO:0000400 ! is_about diabetes mellitus relationship: IAO:0000136 GO:0042593 ! is_about glucose homeostasis relationship: IAO:0000136 UBERON:0000949 ! is_about endocrine system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0008466 name: matrix metalloproteinase 8 measurement def: "The determination of the amount of matrix metalloproteinase 8 present in a sample" [] synonym: "matrix metalloproteinase 8" EXACT [] synonym: "matrix metalloproteinase 8 measurement" EXACT [] synonym: "MMP8" EXACT [] synonym: "neutrophil collagenase" EXACT [] xref: NCIt:C80196 xref: PMID:29212897 is_a: EFO:0004744 ! matrix metalloproteinase measurement is_a: EFO:0004872 ! inflammatory biomarker measurement relationship: IAO:0000136 GO:0006954 ! is_about inflammatory response relationship: IAO:0000136 HP:0001626 ! is_about Abnormality of the cardiovascular system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0008467 name: behavioural inhibitory control measurement def: "Some quantification of the ability to inhibit maladaptive or inappropriate behavior." [] synonym: "inhibitory control measurement" EXACT [] xref: PMID:29251981 is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder relationship: IAO:0000136 GO:0007610 ! is_about behavior property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0008468 name: midregional pro atrial natriuretic peptide measurement def: "Quantification of the levels of midregional pro atrial natriuretic peptide." [] synonym: "MR-proANP" EXACT [] xref: PMID:29237677 is_a: EFO:0004311 ! heart function measurement is_a: EFO:0004730 ! hormone measurement is_a: EFO:0004747 ! protein measurement is_a: EFO:0008471 ! cardiac stress biomarker measurement relationship: IAO:0000136 UBERON:0000948 ! is_about heart property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0008469 name: B-type natriuretic peptide to N-terminal pro B-type natriuretic peptide ratio def: "Quantification of the ratio of B-type natriuretic levels to N-terminal pro B-type natriuretic peptide levels." [] synonym: "BNP:NT-proBNP ratio" EXACT [] xref: PMID:29237677 is_a: EFO:0004311 ! heart function measurement is_a: EFO:0004730 ! hormone measurement is_a: EFO:0004747 ! protein measurement is_a: EFO:0008471 ! cardiac stress biomarker measurement relationship: IAO:0000136 UBERON:0000948 ! is_about heart property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0008470 name: dietary potassium intake measurement def: "Quatification of dietary potassium intake by measuring 24 hr urinary potassium levels." [] xref: PMID:29212900 is_a: EFO:0008111 ! diet measurement is_a: EFO:0009283 ! potassium measurement relationship: IAO:0000136 CHEBI:26216 ! is_about potassium atom property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0008471 name: cardiac stress biomarker measurement def: "A measurement of some protein which is used as a measure of heart failure." [] is_a: EFO:0001444 ! measurement property_value: IAO:0000117 "Trish Whetzel" xsd:string [Term] id: EFO:0008473 name: insulin response measurement def: "Quantification of some aspect of insulin response, typically measuring insulin levels in the blood following a glucose challenge" [] xref: PMID:24699409 is_a: EFO:0004467 ! insulin measurement relationship: IAO:0000136 EFO:0000400 ! is_about diabetes mellitus relationship: IAO:0000136 GO:0042593 ! is_about glucose homeostasis relationship: IAO:0000136 UBERON:0000016 ! is_about endocrine pancreas property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008474 name: spine bone mineral density change measurement def: "Quantification of a change in mineral density of the spine bones" [] synonym: "lumbar spine bone mineral density change measurement" EXACT [] xref: PMID:29266176 is_a: EFO:0007701 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! spine bone mineral density relationship: IAO:0000136 UBERON:0001474 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! is_about bone element relationship: IAO:0000136 UBERON:0002412 ! is_about vertebra property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008475 name: mood instability measurement def: "Quantifiication of some aspect of mood instability." [] xref: PMID:29187730 is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0008476 name: delayed reward discounting measurement def: "Quantification of some aspect of impulsivity related to the increased perceived value of immediate gratification as compared to a larger future reward. The more remote the future reward, the lower its perceived present value (the more it is discounted) and the less likely it is to be chosen." [] synonym: "delay discounting measurement" EXACT [] xref: PMID:29230059 is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0000677 ! is_about mental or behavioural disorder relationship: IAO:0000136 EFO:0001073 ! is_about obesity relationship: IAO:0000136 EFO:0003888 ! is_about attention deficit hyperactivity disorder property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0008479 name: genomic DNA def: "The DNA that is part of the normal chromosomal complement of an organism." [] synonym: "gDNA" EXACT [] xref: BAO:0000316 xref: NCIm:C3272453 xref: NCIt:C95940 is_a: CHEBI:16991 ! deoxyribonucleic acid property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008480 name: mitochondrial DNA def: "Typically small, circular, intronless, and maternally inherited, mitochondrial DNA (mtDNA) is the multicopy deoxyribonucleic acid genome of mitochondria, intracellular organelles responsible for vital respiratory chain and oxidative phosphorylation reactions in higher eukaryotes. Replicated and transcribed by a separate enzymatic machinery from that of nuclear DNA, mtDNA encodes only a subset of mitochondrial functions." [] synonym: "mtDNA" EXACT [] xref: NCIm:C0012929 xref: NCIt:C28512 is_a: CHEBI:16991 ! deoxyribonucleic acid property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008481 name: cDNA def: "cDNA or complementary DNA is complementary in sequence to a particular messenger RNA (mRNA). It is synthesized from mRNA in a reverse transcription reaction by reverse transcriptase enzyme. cDNA can be cloned in a vector and introduced into cells to bring about the expression of that particular gene in those cells." [] synonym: "complementary DNA" EXACT [] xref: BAO:0000315 xref: NCIt:C324 is_a: CHEBI:16991 ! deoxyribonucleic acid property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008483 name: response to trauma exposure def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of exposure to traumatic events." [] synonym: "post traumatic response" EXACT [] synonym: "post-traumatic response" EXACT [] synonym: "response to trauma" EXACT [] synonym: "response to traumatic event" EXACT [] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0008484 name: response to carbamazepine def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbamazepine stimulus, an anti-epileptic drug." [] is_a: GO:0036277 ! response to anticonvulsant relationship: IAO:0000136 CHEBI:3387 ! is_about carbamazepine property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0008485 name: homosexuality def: "A sexual attraction to members of the same sex." [] xref: MedDRA:10020375 xref: NCIt:C84363 is_a: EFO:0000651 ! phenotype property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0008486 name: male homosexuality is_a: EFO:0008485 ! homosexuality property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "A sexual attraction to members of the same sex (male)." xsd:string property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0008487 name: lateral ventricle volume measurement def: "Quantification of the volume of the lateral ventricle, the largest cavity of the ventricular system of the human brain which contains cerebrospinal fluid (CSF)." [] xref: https://en.wikipedia.org/wiki/Lateral_ventricles xref: PMID:29187748 is_a: EFO:0006930 ! brain volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain relationship: IAO:0000136 UBERON:0002285 ! is_about telencephalic ventricle property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0008490 name: ampulla of Vater adenocarcinoma def: "A carcinoma that arises from glandular epithelial cells of the hepatopancreatic ampulla" [MONDO:DesignPattern] def: "A carcinoma that arises from glandular epithelial cells of the hepatopancreatic ampulla" [https://orcid.org/0000-0002-6601-2165] synonym: "adenocarcinoma of ampulla of Vater" EXACT [NCIT:C6650] synonym: "adenocarcinoma of ampulla of vater" RELATED [DOID:3502] synonym: "ampulla of Vater adenocarcinoma" EXACT [NCIT:C6650] synonym: "ampulla of vater adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "ampulla of vater adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "ampullary adenocarcinoma" EXACT [DOID:3502, NCIT:C6650] synonym: "hepatopancreatic ampulla adenocarcinoma" EXACT [MONDO:patterns/location] synonym: "invasive adenocarcinoma of the ampullary region" EXACT [NCIT:C6650] xref: DOID:3502 {source="MONDO:equivalentTo"} xref: EFO:0008490 {source="MONDO:equivalentTo"} xref: MONDO:0002670 xref: NCIT:C6650 {source="DOID:3502", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C6650 {source="DOID:3502", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1332243 {source="NCIT:C6650", source="DOID:3502", source="MONDO:equivalentTo"} is_a: EFO:1000079 {source="DOID:3502", source="EFO:0008490", source="MONDO:Redundant", source="NCIT:C6650"} ! Ampulla of Vater Carcinoma is_a: EFO:1000223 {source="DOID:3502", source="MONDO:Entailed", source="MONDO:Redundant"} ! Duodenal Adenocarcinoma is_a: MONDO:0002665 ! extrahepatic bile duct adenocarcinoma property_value: exactMatch DOID:3502 property_value: exactMatch DOID:3502 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332243 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332243 property_value: exactMatch NCIT:C6650 property_value: exactMatch NCIT:C6650 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/adenocarcinoma.yaml [Term] id: EFO:0008491 name: atypical ductal hyperplasia def: "Atypical ductal hyperplasia is an atypical proliferative lesion that falls in between the continuum from normal hyperplasia to low grade ductal carcinoma in situ." [] comment: Atypical ductal hyperplasia is the term used for a benign lesion of the breast that indicates an increased risk of breast cancer. synonym: "atypical breast ductal hyperplasia" EXACT [] synonym: "atypical ductal breast hyperplasia" EXACT [] synonym: "atypical ductal hyperplasia" EXACT [] synonym: "atypical ductal hyperplasia of breast" EXACT [] synonym: "atypical ductal hyperplasia of the breast" EXACT [] synonym: "DIN 1B" EXACT [] synonym: "ductal intraepithelial neoplasia, Grade 1B" EXACT [] xref: MedDRA:10068781 xref: NCIt:C8436 xref: SNOMEDCT:264505003 xref: UMLS:C1332347 is_a: EFO:0008500 ! ductal breast hyperplasia property_value: definition:citation https://doi.org/10.1155/2012/297832 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0008492 name: breast hyperplasia def: "Breast hyperplasia refers to hyperplastic proliferations of the epithelial cells in the breast parenchyma." [] xref: MedDRA:10006256 xref: NCIt:C4804 xref: UMLS:C0542028 is_a: EFO:0003869 ! breast neoplasm property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0008493 name: cerebral small vessel disease def: "Cerebral small vessel disease is the term currently used to pathological processes that affect the brain parenchymal circulation (arterioles, capillaries, and veins). It is a major contributor to stroke, and a leading cause of cognitive impairment and dementia." [] synonym: "small vessel cerebrovascular disease" EXACT [] xref: OMIM:618360 xref: SNOMEDCT:443929000 is_a: EFO:0003763 ! cerebrovascular disorder property_value: definition:citation https://doi.org/10.3389/fphar.2016.00061 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0008494 name: Chikungunya encephalitis def: "A viral infectious disease that results in inflammation of the brain caused by Chikungunya virus. The disease is usually manifested as fever, arthralgia and rash." [] synonym: "Chikungunya associated encephalitis" EXACT [] xref: MESH:D065632 {http://www.w3.org/2004/02/skos/core#closeMatch=""} is_a: EFO:0000763 ! viral disease property_value: definition:citation https://doi.org/10.1212/WNL.0000000000002234 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0008495 name: childhood supratentorial ependymoma def: "An ependymoma that arises from the supratentorial region of the brain and occurs during childhood." [NCIT:P378] synonym: "childhood supratentorial ependymoma" EXACT [NCIT:C9043] synonym: "paediatric cerebral ependymoma" EXACT OMO:0003005 [] synonym: "paediatric supratentorial ependymoblastoma" EXACT OMO:0003005 [] synonym: "pediatric cerebral ependymoma" EXACT [DOID:7502, NCIT:C6268] synonym: "pediatric supratentorial ependymoblastoma" EXACT [DOID:7502, NCIT:C6772] synonym: "pediatric supratentorial ependymoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "pediatric supratentorial ependymoma" EXACT [] {comment="preferred label from MONDO"} synonym: "supratentorial ependymoma" BROAD [NCIT:C9043] synonym: "supratentorial ependymoma" EXACT [NCIT:C9043] xref: DOID:7502 {source="MONDO:equivalentTo"} xref: EFO:0008495 {source="MONDO:equivalentTo"} xref: https://doi.org/10.1093/neuonc/noq074 xref: MONDO:0004249 xref: NCIT:C9043 {source="DOID:7502", source="MONDO:equivalentTo"} xref: UMLS:C0278650 {source="DOID:7502", source="MONDO:equivalentTo", source="NCIT:C9043"} is_a: EFO:1000654 ! childhood cancer is_a: MONDO:0003478 {source="NCIT:C9043"} ! childhood ependymoma is_a: MONDO:0020687 {source="NCIT:C9043"} ! supratentorial ependymal tumor property_value: closeMatch NCIT:C6268 property_value: closeMatch NCIT:C6772 property_value: exactMatch DOID:7502 property_value: exactMatch DOID:7502 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278650 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278650 property_value: exactMatch NCIT:C9043 property_value: exactMatch NCIT:C9043 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: excluded_subClassOf MONDO:0002071 {source="DOID:7502"} property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/childhood.yaml [Term] id: EFO:0008496 name: chronic hepatitis def: "An active inflammatory process affecting the liver for more than six months. Causes include viral infections, autoimmune disorders, drugs, and metabolic disorders." [] comment: Acute cases of hepatitis are seen to be resolved well within a six-month period. When hepatitis is continued for more than six months it is termed chronic hepatitis. xref: MedDRA:10008909 xref: MedDRA:10008915 xref: NCIt:C82978 xref: SNOMEDCT:76783007 xref: UMLS:C0019189 is_a: HP:0012115 ! Hepatitis relationship: has_modifier HP:0011010 ! Chronic property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0008497 name: chronic lung allograft dysfunction def: "Chronic lung allograft dysfunction encompasses a range of pathologies that cause a transplanted lung to not achieve or maintain normal function. It manifests as airflow restriction and/or obstruction and is predominantly a result of chronic rejection." [] is_a: EFO:0009910 ! chronic lung disease relationship: has_modifier HP:0011010 ! Chronic property_value: definition:citation https://doi.org/10.1007/s40472-016-0112-y xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0008498 name: clear cell sarcoma def: "A rare malignant neoplasm with melanocytic differentiation characterized by the presence of polygonal or spindle shaped clear cells. This sarcoma usually affects the tendons and aponeuroses and is associated with a poor prognosis due to recurrences and metastases." [NCIT:P378] synonym: "adult soft part clear cell sarcoma" EXACT [DOID:4233] synonym: "chordoid sarcoma" EXACT [NCIT:C3745] synonym: "clear cell sarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "clear cell sarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "clear cell sarcoma (morphologic abnormality)" EXACT [DOID:4233] synonym: "clear cell sarcoma - not kidney" EXACT [NCIT:C3745] synonym: "clear cell sarcoma of soft parts" EXACT [DOID:4233, NCIT:C3745] synonym: "clear cell sarcoma of soft tissue" EXACT [NCIT:C3745] synonym: "clear cell sarcoma/malignant melanoma of soft parts (excluding clear cell sarcoma of the kidney)" EXACT [NCIT:C3745] synonym: "malignant melanoma of soft parts" RELATED [DOID:4233] synonym: "malignant melanoma of soft tissues" EXACT [DOID:4233] synonym: "malignant melanoma of the soft parts" EXACT [NCIT:C3745] synonym: "melanoma, malignant, of soft parts" EXACT [DOID:4233] xref: DOID:4233 {source="MONDO:equivalentTo"} xref: EFO:0008498 {source="MONDO:equivalentTo"} xref: https://doi.org/10.1016/j.ijscr.2017.05.034 xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9044/3 {source="NCIT:C3745"} xref: MESH:D018227 {source="DOID:4233", source="MONDO:equivalentTo"} xref: MONDO:0002926 xref: NCIT:C3745 {source="DOID:4233", source="MONDO:equivalentTo"} xref: ONCOTREE:CCS {source="MONDO:equivalentTo"} xref: SCTID:402561003 {source="DOID:4233", source="MONDO:equivalentTo"} xref: UMLS:C0206651 {source="DOID:4233", source="MONDO:equivalentTo", source="NCIT:C3745"} is_a: EFO:1001968 {source="EFO:0008498", source="NCIT:C3745"} ! soft tissue sarcoma property_value: closeMatch http://identifiers.org/snomedct/12622007 property_value: closeMatch http://identifiers.org/snomedct/271944004 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1332198 property_value: closeMatch NCIT:C27370 property_value: exactMatch DOID:4233 property_value: exactMatch DOID:4233 property_value: exactMatch http://identifiers.org/mesh/D018227 property_value: exactMatch http://identifiers.org/mesh/D018227 property_value: exactMatch http://identifiers.org/snomedct/402561003 property_value: exactMatch http://identifiers.org/snomedct/402561003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206651 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206651 property_value: exactMatch NCIT:C3745 property_value: exactMatch NCIT:C3745 [Term] id: EFO:0008499 name: DNA repair deficiency def: "A disease that has its basis in the disruption of DNA repair." [MONDO:patterns/basis_in_disruption_of_process] def: "DNA repair deficiency refers to any mutation in the repair mechanisms that leads to accumulation of DNA errors and carcinogenesis." [] comment: A DNA repair-deficiency disorder is a medical condition due to reduced functionality of DNA repair. synonym: "chromosome instability syndrome" RELATED [MESH:D049914] synonym: "chromosome instability syndromes" RELATED [MESH:D049914] synonym: "deficiency of DNA repair" EXACT [] synonym: "deficient DNA repair" RELATED [MESH:D049914] synonym: "deficient DNA Repairs" RELATED [MESH:D049914] synonym: "disorder of DNA repair" EXACT [MONDO:patterns/basis_in_disruption_of_process] synonym: "disorder, DNA repair-deficiency" RELATED [MESH:D049914] synonym: "disorders, DNA repair-deficiency" RELATED [MESH:D049914] synonym: "DNA repair deficiency" RELATED [MESH:D049914] synonym: "DNA repair deficiency disorders" RELATED [MESH:D049914] synonym: "DNA repair disease" EXACT [] {comment="preferred label from MONDO"} synonym: "DNA repair disorder" EXACT [] synonym: "DNA repair, deficient" RELATED [MESH:D049914] synonym: "DNA repair-deficiencies" RELATED [MESH:D049914] synonym: "DNA repair-deficiency" RELATED [MESH:D049914] synonym: "DNA repair-deficiency disorder" RELATED [MESH:D049914] synonym: "DNA Repairs, deficient" RELATED [MESH:D049914] synonym: "repair, deficient DNA" RELATED [MESH:D049914] synonym: "Repairs, deficient DNA" RELATED [MESH:D049914] synonym: "syndrome, chromosome instability" RELATED [MESH:D049914] synonym: "syndromes, chromosome instability" RELATED [MESH:D049914] xref: MESH:D049914 {source="MONDO:equivalentTo"} xref: MONDO:0021190 xref: NCIT:C7757 {source="MONDO:equivalentTo"} xref: NCIt:C7757 xref: UMLS:C0268134 is_a: MONDO:0019052 ! inborn errors of metabolism property_value: definition:citation https://doi.org/10.1007/s10689-016-9883-7 xsd:string property_value: exactMatch http://identifiers.org/mesh/D049914 property_value: exactMatch NCIT:C7757 property_value: IAO:0000117 "Laura Huerta" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5666 xsd:anyURI [Term] id: EFO:0008500 name: ductal breast hyperplasia def: "Hyperplasia of the epithelial cells in the breast ducts. It includes the atypical ductal hyperplasia, papillary intraductal hyperplasia, intraductal myoepitheliosis, and ductal hyperplasia of the usual type." [] synonym: "breast epithelial hyperplasia" EXACT [] synonym: "ductal hyperplasia of breast" EXACT [] synonym: "ductal hyperplasia of the breast" EXACT [] synonym: "epithelial hyperplasia of breast" EXACT [] synonym: "epithelial hyperplasia of the breast" EXACT [] xref: NCIt:C9492 xref: UMLS:C0741698 is_a: EFO:0008492 ! breast hyperplasia property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0008501 name: dysplasia def: "A usually neoplastic transformation of the cell, associated with altered architectural tissue patterns. The cellular changes include nuclear and cytoplasmic abnormalities. Molecular genetic abnormalities are also often found and, in some instances, may lead to cancer." [] comment: Dysplasia is a term used in pathology to refer to an abnormality of development or an epithelial anomaly of growth and differentiation (epithelial dysplasia). synonym: "dyscrasia" EXACT [] synonym: "dysplasia" EXACT [] synonym: "dysplastic" EXACT [] xref: MedDRA:10058314 xref: NCIt:C4086 xref: SNOMEDCT:25723000 xref: UMLS:C0334044 is_a: EFO:0000616 ! neoplasm property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0008502 name: gastric non-cardia carcinoma def: "Non-cardia gastric carcinoma is a gastric carcinoma arising from distal regions of the stomach." [] synonym: "non-cardia gastric carcinoma" EXACT [] synonym: "noncardia gastric carcinoma" EXACT [] is_a: EFO:0000178 ! gastric carcinoma property_value: definition:citation http://dx.doi.org/10.1136/gutjnl-2014-308915 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0008503 name: hepatitis B virus induced hepatocellular carcinoma def: "A hepatocellular carcinoma that develops following hepatitis B virus exposure and injury of the liver parenchyma." [] synonym: "hepatitis B virus related hepatocellular carcinoma" EXACT [] synonym: "hepatitis B virus-related hepatocellular carcinoma" EXACT [] xref: NCIt:C27687 xref: UMLS:C1333977 is_a: EFO:0008505 ! hepatitis virus-related hepatocellular carcinoma property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0008504 name: hepatitis C virus induced hepatocellular carcinoma def: "A hepatocellular carcinoma that develops following hepatitis C virus exposure and injury of the liver parenchyma." [] synonym: "hepatitis C virus related hepatocellular carcinoma" EXACT [] synonym: "hepatitis C virus-related hepatocellular carcinoma" EXACT [] xref: NCIt:C27688 xref: UMLS:C1333978 is_a: EFO:0008505 ! hepatitis virus-related hepatocellular carcinoma property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0008505 name: hepatitis virus-related hepatocellular carcinoma def: "A hepatocellular carcinoma that develops following hepatitis virus exposure and injury of the liver parenchyma." [] synonym: "hepatitis virus-related hepatocellular cancer" EXACT [] xref: NCIt:C27686 xref: UMLS:C1333979 is_a: EFO:0000182 ! hepatocellular carcinoma property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0008506 name: hyperparathyroidism def: "Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary." [] def: "Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes." [NCIT:C48259] comment: Hyperparathyroidism is an increased parathyroid hormone levels in the blood. synonym: "hyperparathyroidism" EXACT [] {comment="preferred label from MONDO"} synonym: "hyperparathyroidism" EXACT [NCIT:C48259] xref: DOID:13543 {source="MONDO:equivalentTo"} xref: ICD10:E21 xref: ICD10:E21.3 xref: ICD9:252.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13543"} xref: ICD9:252.00 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13543"} xref: MedDRA:10020705 xref: MESH:D006961 {source="MONDO:equivalentTo", source="DOID:13543"} xref: MeSH:D006961 xref: MONDO:0001741 xref: NCIT:C48259 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:13543"} xref: NCIt:C48259 xref: ORDO:99879 xref: SCTID:66999008 {source="MONDO:equivalentTo", source="DOID:13543"} xref: SNOMEDCT:66999008 xref: UMLS:C0020502 {source="MONDO:equivalentTo", source="NCIT:C48259", source="DOID:13543"} is_a: EFO:0005754 {source="DOID:13543", source="EFO:0008506", source="MESH:D006961", source="NCIT:C48259"} ! parathyroid disease property_value: exactMatch DOID:13543 property_value: exactMatch http://identifiers.org/mesh/D006961 property_value: exactMatch http://identifiers.org/snomedct/66999008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020502 property_value: exactMatch NCIT:C48259 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0008507 name: interstitial cystitis def: "A rare chronic debilitating urogenital disease characterized by urinary frequency, urgency, and pelvic pain." [Orphanet:37202] def: "Interstitial cystitis, or bladder pain syndrome, is a debilitating chronic disease characterized by discomfort or recurrent abdominal and pelvic pains in the absence of urinary tract infections." [] comment: Interstitial cystitis, also known as bladder pain syndrome, is a type of chronic pain that affects the bladder. Symptoms include feeling the need to urinate right away, needing to urinate often, and pain with sex. subset: ordo_disease {source="Orphanet:37202"} synonym: "bladder pain syndrome" EXACT [Orphanet:37202] synonym: "chronic interstitial cystitis" EXACT [MONDO:0006703] synonym: "IC/BPS" EXACT [Orphanet:37202] synonym: "IC/PBS" EXACT [Orphanet:37202] synonym: "interstitial cystitis" EXACT [] {comment="preferred label from MONDO"} synonym: "interstitial cystitis, chronic" EXACT [MONDO:patterns/chronic] synonym: "interstitial cystitis/bladder pain syndrome" EXACT [Orphanet:37202] synonym: "interstitial cystitis/painful bladder syndrome" EXACT [Orphanet:37202] synonym: "painful bladder syndrome" EXACT [Orphanet:37202] synonym: "ulcerative cystitis" EXACT [DOID:13949] xref: DOID:13949 {source="MONDO:equivalentTo"} xref: DOID:1678 {source="MONDO:equivalentTo", source="EFO:1000869"} xref: EFO:1000869 {source="MONDO:equivalentTo"} xref: ICD9:595.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1678", source="EFO:1000869"} xref: MedDRA:10008927 {source="EFO:1000869"} xref: MedDRA:10011796 {source="Orphanet:37202/e", source="Orphanet:37202"} xref: MESH:D018856 {source="Orphanet:37202/e", source="DOID:13949", source="MONDO:equivalentTo", source="DOID:1678", source="Orphanet:37202", source="EFO:1000869"} xref: MONDO:0018301 xref: NCIT:C27189 {source="MONDO:cjm", source="DOID:13949", source="MONDO:equivalentTo"} xref: NCIt:C27189 xref: Orphanet:37202 {source="MONDO:equivalentTo"} xref: SCTID:111409009 {source="DOID:13949", source="MONDO:equivalentTo"} xref: SCTID:197834003 {source="DOID:13949", source="MONDO:equivalentTo", source="DOID:1678", source="EFO:1000869"} xref: UMLS:C0282488 {source="NCIT:C27189", source="Orphanet:37202/e", source="DOID:13949", source="MONDO:equivalentTo", source="Orphanet:37202"} xref: UMLS:C0600040 {source="MONDO:equivalentTo", source="DOID:1678", source="Orphanet:37202"} xref: UMLS:C1720830 {source="MONDO:equivalentTo", source="Orphanet:37202"} xref: UMLS:CN204884 {source="MONDO:equivalentTo"} is_a: EFO:1000023 {source="DOID:1678", source="EFO:1000869", source="NCIT:C27189"} ! chronic cystitis is_a: EFO:1001986 {source="DOID:1678"} ! connective tissue disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015106"} ! rare property_value: closeMatch http://identifiers.org/meddra/10008927 property_value: closeMatch http://identifiers.org/meddra/10011796 property_value: definition:citation https://doi.org/10.3978/j.issn.2223-4683.2015.11.04 xsd:string property_value: exactMatch DOID:13949 property_value: exactMatch DOID:1678 property_value: exactMatch http://identifiers.org/mesh/D018856 property_value: exactMatch http://identifiers.org/snomedct/111409009 property_value: exactMatch http://identifiers.org/snomedct/197834003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0282488 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0600040 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1720830 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204884 property_value: exactMatch NCIT:C27189 property_value: exactMatch Orphanet:37202 property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0008508 name: large cell medulloblastoma def: "A medulloblastoma composed of large cells with prominent nucleoli and a larger amount of cytoplasm in contrast with the cells of the classic medulloblastoma." [NCIT:C6904] synonym: "large cell medulloblastoma" EXACT [] {comment="preferred label from MONDO"} synonym: "large cell medulloblastoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "large cell medulloblastoma" EXACT [DOID:3857, NCIT:C6904] synonym: "large cell medulloblastoma (morphologic abnormality)" EXACT [DOID:3857] xref: DOID:3857 {source="MONDO:equivalentTo"} xref: EFO:0008508 {source="MONDO:equivalentTo"} xref: https://doi.org/10.1177/0883073815600866 xref: ICDO:9474/3 {source="NCIT:C6904"} xref: MONDO:0002791 xref: NCIT:C6904 {source="MONDO:equivalentTo", source="DOID:3857", source="MONDO:exact-label-match"} xref: NCIT:C6904 {source="MONDO:equivalentTo", source="DOID:3857", source="exact-label-match"} xref: UMLS:C1266180 {source="MONDO:equivalentTo", source="DOID:3857", source="NCIT:C6904"} is_a: EFO:0002939 {source="DOID:3857", source="EFO:0008508", source="NCIT:C6904"} ! medulloblastoma property_value: closeMatch http://identifiers.org/snomedct/128790006 property_value: exactMatch DOID:3857 property_value: exactMatch DOID:3857 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266180 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266180 property_value: exactMatch NCIT:C6904 property_value: exactMatch NCIT:C6904 [Term] id: EFO:0008509 name: lobular breast carcinoma def: "An adenocarcinoma of the breast arising from the lobules. This is a relatively uncommon carcinoma, represents approximately 10% of the breast adenocarcinomas and is often bilateral or multifocal." [NCIT:C3771] synonym: "breast lobular carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "breast lobular carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "carcinoma of lobule of mammary gland" EXACT [MONDO:patterns/carcinoma] synonym: "lobular adenocarcinoma" EXACT [NCIT:C3771] synonym: "lobular breast carcinoma" EXACT [NCIT:C3771] synonym: "lobular carcinoma" EXACT [NCIT:C3771] synonym: "lobular carcinoma of breast" EXACT [NCIT:C3771] synonym: "lobular carcinoma of the breast" EXACT [NCIT:C3771] synonym: "lobule of mammary gland carcinoma" EXACT [MONDO:patterns/location] xref: DOID:0050938 {source="MONDO:equivalentTo"} xref: EFO:0008509 {source="MONDO:equivalentTo"} xref: ICDO:8520/3 {source="NCIT:C3771"} xref: MONDO:0000552 xref: NCIT:C3771 {source="MONDO:equivalentTo"} xref: SCTID:278054005 {source="MONDO:equivalentTo"} is_a: EFO:0000304 {source="NCIT:C3771"} ! breast adenocarcinoma property_value: exactMatch DOID:0050938 property_value: exactMatch DOID:0050938 property_value: exactMatch http://identifiers.org/snomedct/278054005 property_value: exactMatch http://identifiers.org/snomedct/278054005 property_value: exactMatch NCIT:C3771 property_value: exactMatch NCIT:C3771 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:0008510 name: Lyme disease def: "Lyme disease (named after the towns in the USA where the disease was first identified) is a bacterial infection caused by Borrelia burgdorferi." [Orphanet:91546] def: "Lyme disease is an infectious disease caused by the bacteria Borrelia burgdorferi. The first symptom is usually a red rash, which may look like a bull's eye." [] comment: Lyme disease is an infectious disease caused by bacteria of the Borrelia type which is spread by ticks. subset: ordo_disease {source="Orphanet:91546"} synonym: "Bannwarth syndrome" EXACT [DOID:11729] synonym: "Bannworth's syndrome" EXACT [DOID:11729] synonym: "Borrelia" EXACT [NCIT:C45161] synonym: "Borrelia burgdorferi infection" EXACT [NCIT:C45161] synonym: "Borreliella burgdorferi caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Borreliella burgdorferi disease or disorder" EXACT [] synonym: "Borreliella burgdorferi infectious disease" EXACT [] synonym: "Lyme borreliosis" EXACT [DOID:11729, Orphanet:91546] synonym: "Lyme disease" EXACT [NCIT:C45161] synonym: "Lyme disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Lyme neuroborreliosis" EXACT [DOID:11729] synonym: "neuroborreliosis" EXACT [DOID:11729] synonym: "neurological Lyme disease" EXACT [DOID:11729] synonym: "Steere's disease" EXACT [] xref: DOID:11729 {source="MONDO:equivalentTo"} xref: ICD10:A69.2 xref: ICD10CM:A69.2 {source="Orphanet:91546/e", source="MONDO:equivalentTo", source="DOID:11729", source="Orphanet:91546"} xref: ICD9:088.81 {source="DOID:11729"} xref: MedDRA:10025169 {source="Orphanet:91546/e", source="Orphanet:91546"} xref: MESH:D008193 {source="Orphanet:91546/e", source="MONDO:equivalentTo", source="DOID:11729", source="Orphanet:91546"} xref: MONDO:0019632 xref: NCIT:C45161 {source="MONDO:equivalentTo", source="DOID:11729"} xref: NCIt:C45161 xref: Orphanet:91546 {source="MONDO:equivalentTo"} xref: SCTID:48982009 {source="MONDO:equivalentTo", source="DOID:11729"} xref: SNOMEDCT:23502006 xref: UMLS:C0024198 {source="NCIT:C45161", source="Orphanet:91546/e", source="MONDO:equivalentTo", source="DOID:11729", source="Orphanet:91546"} is_a: EFO:1000842 ! Borrelia infectious disease is_a: MONDO:0000314 {source="DOID:11729"} ! primary bacterial infectious disease is_a: MONDO:0025294 ! tick-borne infectious disease property_value: closeMatch http://identifiers.org/meddra/10025169 property_value: exactMatch DOID:11729 property_value: exactMatch http://identifiers.org/mesh/D008193 property_value: exactMatch http://identifiers.org/snomedct/48982009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024198 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A69.2 property_value: exactMatch NCIT:C45161 property_value: exactMatch Orphanet:91546 property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0008511 name: metopic craniosynostosis def: "Metopic craniosynostosis is the early fusion of the forehead (frontal) bones. It accounts for 5%–15% of all craniosynostosis cases. This premature fusion of the frontal bones results in a characteristically altered skull shape, termed trigonocephaly, that usually requires surgical correction." [] synonym: "interfrontal craniofaciosynostosis" EXACT [] synonym: "metopic synostosis" EXACT [] xref: SNOMEDCT:109409003 is_a: Orphanet:183524 ! Rare genetic bone disease is_a: Orphanet:183542 ! Genetic cranial malformation is_a: Orphanet:404584 ! Rare genetic bone development disorder property_value: definition:citation https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3413823/ xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0008512 name: micropapillary urothelial carcinoma def: "An infiltrating bladder transitional cell carcinoma exhibiting micropapillary growth pattern. -- 2003" [NCIT:P378] synonym: "infiltrating bladder urothelial carcinoma, micropapillary variant" EXACT [NCIT:C27202] synonym: "micropapillary variant infiltrating bladder urothelial carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: DOID:6976 {source="MONDO:equivalentTo"} xref: EFO:0008512 {source="MONDO:equivalentTo"} xref: https://doi.org/10.4103/1742-6413.107986 xref: NCIT:C27202 {source="DOID:6976", source="MONDO:equivalentTo"} xref: UMLS:C1517579 {source="DOID:6976", source="NCIT:C27202", source="MONDO:equivalentTo"} is_a: EFO:0006544 ! bladder transitional cell carcinoma property_value: exactMatch DOID:6976 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1517579 property_value: exactMatch NCIT:C27202 [Term] id: EFO:0008513 name: morphologic finding def: "A light microscopic finding that describes the cellular characteristics and architectural patterns of cell populations in a tissue sample." [] xref: NCIt:C35867 xref: UMLS:C0700329 is_a: EFO:0003765 ! sign or symptom property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0008514 name: neurofibromatosis def: "A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist." [MONDO:cjm, NCIT:C6727, Wikipedia:Neurofibromatosis] def: "Neurofibromatosis, which was first described in 1882 by Von Recklinghausen, is a genetic disease characterized by a neuroectodermal abnormality and by clinical manifestations of systemic and progressive involvement which mainly affect the skin, nervous system, bones, eyes and possibly other organs." [] comment: Neurofibromatosis is a group of three conditions in which tumors grow in the nervous system. The three types are neurofibromatosis type 1, neurofibromatosis type 2 and schwannomatosis. synonym: "acoustic neurofibromatosis" EXACT [DOID:8712] synonym: "central Neurofibromatosis" EXACT [DOID:8712] synonym: "neurofibromatosis" EXACT [NCIT:C6727] synonym: "neurofibromatosis" EXACT [] {comment="preferred label from MONDO"} synonym: "neurofibromatosis syndrome" EXACT [NCIT:C6727] synonym: "neurofibromatosis type 2" NARROW [DOID:8712] synonym: "neurofibromatosis type 4" NARROW [DOID:8712] synonym: "neurofibromatosis type IV" NARROW [DOID:8712] synonym: "peripheral Neurofibromatosis" EXACT [DOID:8712] synonym: "Recklinghausen's neurofibromatosis" EXACT [DOID:8712] synonym: "type IV neurofibromatosis of riccardi" EXACT [DOID:8712] synonym: "von Reklinghausen disease" EXACT [DOID:8712] xref: DOID:8712 {source="MONDO:equivalentTo"} xref: ICD10:Q85.00 xref: ICD9:237.7 {source="DOID:8712"} xref: ICD9:237.70 {source="DOID:8712", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:237.71 {source="DOID:8712"} xref: ICD9:237.72 {source="DOID:8712"} xref: ICD9CM:237.7 xref: ICDO:9540/1 {source="NCIT:C6727"} xref: MedDRA:10029268 xref: MedDRA:10029270 xref: MedDRA:10029271 xref: MedDRA:10029272 xref: MESH:D017253 {source="MONDO:equivalentTo"} xref: MONDO:0021061 xref: NCIT:C6727 {source="MONDO:equivalentTo"} xref: NCIt:C6727 xref: SCTID:19133005 {source="DOID:8712", source="MONDO:equivalentTo"} xref: SNOMEDCT:81669005 xref: UMLS:C0162678 {source="DOID:8712", source="MONDO:equivalentTo", source="NCIT:C6727"} is_a: MONDO:0000426 {source="DOID:8712", source="Wikipedia:Neurofibromatosis"} ! autosomal dominant disease is_a: MONDO:0015356 {source="MESH:D017253", source="NCIT:C6727/inferred", source="NCIT:C84348"} ! hereditary neoplastic syndrome is_a: MONDO:0016756 {source="Wikipedia:Neurofibromatosis"} ! inherited nervous system cancer-predisposing syndrome is_a: MONDO:0042983 {source="MESH:D017253", source="NCIT:C6727", source="https://www.hopkinsmedicine.org"} ! neurocutaneous syndrome property_value: definition:citation https://doi.org/10.1590/abd1806-4841.20132125 xsd:string property_value: exactMatch DOID:8712 property_value: exactMatch http://identifiers.org/mesh/D017253 property_value: exactMatch http://identifiers.org/snomedct/19133005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162678 property_value: exactMatch NCIT:C6727 property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0008515 name: nodular melanoma def: "An aggressive form of melanoma, frequently metastasizing to the lymph nodes. It presents as a papular or nodular raised skin lesion. It comprises approximately 10-15% of melanomas. Morphologically, it often displays an epithelioid appearance." [NCIT:P378] synonym: "nodular cutaneous (skin) melanoma" EXACT [NCIT:C4225] synonym: "nodular malignant melanoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "nodular malignant melanoma" EXACT [] {comment="preferred label from MONDO"} synonym: "nodular malignant melanoma of skin" EXACT [NCIT:C4225] synonym: "nodular malignant melanoma of the skin" EXACT [NCIT:C4225] synonym: "nodular malignant skin melanoma" EXACT [NCIT:C4225] synonym: "nodular melanoma" EXACT [NCIT:C4225] synonym: "nodular melanoma (morphologic abnormality)" EXACT [DOID:10047] xref: DOID:10047 {source="MONDO:equivalentTo"} xref: EFO:0008515 {source="MONDO:equivalentTo"} xref: GARD:0009961 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: https://doi.org/10.5826/dpc.0402a15 xref: ICDO:8721/3 {source="NCIT:C4225"} xref: MONDO:0000930 xref: NCIT:C4225 {source="MONDO:equivalentTo", source="DOID:10047"} xref: SCTID:254731001 {source="MONDO:equivalentTo", source="DOID:10047"} xref: UMLS:C0334424 {source="MONDO:equivalentTo", source="NCIT:C4225", source="DOID:10047"} is_a: EFO:0000389 {source="DOID:10047", source="EFO:0008515", source="NCIT:C4225"} ! cutaneous melanoma property_value: closeMatch http://identifiers.org/snomedct/2142002 property_value: exactMatch DOID:10047 property_value: exactMatch DOID:10047 property_value: exactMatch http://identifiers.org/snomedct/254731001 property_value: exactMatch http://identifiers.org/snomedct/254731001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334424 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334424 property_value: exactMatch NCIT:C4225 property_value: exactMatch NCIT:C4225 [Term] id: EFO:0008516 name: non-functioning pituitary adenoma def: "A hormone producing or non-producing pituitary gland adenoma not associated with a hormonal syndrome." [NCIT:C4348] subset: ordo_disease {source="Orphanet:91349"} synonym: "functionless adenoma of pituitary" EXACT [NCIT:C4348] synonym: "functionless adenoma of pituitary gland" EXACT [NCIT:C4348] synonym: "functionless adenoma of the pituitary" EXACT [NCIT:C4348] synonym: "functionless adenoma of the pituitary gland" EXACT [NCIT:C4348] synonym: "functionless pituitary adenoma" EXACT [NCIT:C4348] synonym: "functionless pituitary gland adenoma" EXACT [NCIT:C4348] synonym: "NFPA" EXACT ABBREVIATION [Orphanet:91349] synonym: "non-functioning adenoma of pituitary" EXACT [NCIT:C4348] synonym: "non-functioning adenoma of pituitary gland" EXACT [NCIT:C4348] synonym: "non-functioning adenoma of the pituitary" EXACT [NCIT:C4348] synonym: "non-functioning adenoma of the pituitary gland" EXACT [NCIT:C4348] synonym: "non-functioning pituitary adenoma" EXACT [NCIT:C4348] synonym: "non-functioning pituitary adenoma" EXACT [] {comment="preferred label from MONDO"} synonym: "non-functioning pituitary adenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "non-functioning pituitary gland adenoma" EXACT [NCIT:C4348] synonym: "non-secretory adenoma of pituitary" EXACT [NCIT:C4348] synonym: "non-secretory adenoma of pituitary gland" EXACT [NCIT:C4348] synonym: "non-secretory adenoma of the pituitary" EXACT [NCIT:C4348] synonym: "non-secretory adenoma of the pituitary gland" EXACT [NCIT:C4348] synonym: "non-secretory pituitary adenoma" EXACT [NCIT:C4348] synonym: "non-secretory pituitary gland adenoma" EXACT [NCIT:C4348] synonym: "nonfunctional pituitary gland adenoma" EXACT [NCIT:C4348] synonym: "silent pituitary gland adenoma" EXACT [NCIT:C4348] xref: DOID:5715 {source="MONDO:equivalentTo"} xref: EFO:0008516 {source="MONDO:equivalentTo"} xref: https://doi.org/10.14791/btrt.2016.4.1.1 xref: ICD10:D35.2 {source="MONDO:relatedTo", source="ORDO:91349/ntbt", source="Orphanet:91349"} xref: ICD10CM:D35.2 {source="MONDO:relatedTo", source="Orphanet:91349/ntbt", source="Orphanet:91349"} xref: MONDO:0019613 xref: NCIT:C4348 {source="MONDO:equivalentTo", source="DOID:5715"} xref: Orphanet:91349 {source="MONDO:equivalentTo"} xref: SCTID:254962005 {source="MONDO:equivalentTo", source="DOID:5715"} is_a: EFO:1000478 {source="DOID:5715", source="EFO:0008516", source="MONDO:Redundant", source="NCIT:C4348", source="Orphanet:91349"} ! Pituitary Gland Adenoma is_a: MONDO:0003603 {source="MONDO:Entailed", source="NCIT:C4348"} ! non-functioning pituitary gland neoplasm property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0338078 property_value: exactMatch DOID:5715 property_value: exactMatch DOID:5715 property_value: exactMatch http://identifiers.org/snomedct/254962005 property_value: exactMatch http://identifiers.org/snomedct/254962005 property_value: exactMatch NCIT:C4348 property_value: exactMatch NCIT:C4348 property_value: exactMatch Orphanet:91349 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql [Term] id: EFO:0008517 name: oral lichen planus def: "Oral lichen planus is a chronic inflammatory oral condition of unknown aetiology characterized by T-cell-mediated chronic immune response and abnormal epithelial keratinization cycle." [] synonym: "OLP" EXACT [] xref: MedDRA:10030983 xref: NCIt:C7406 xref: SNOMEDCT:235049008 xref: UMLS:C0206139 is_a: EFO:1000726 ! lichen planus property_value: definition:citation https://doi.org/10.1155/2012/759626 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0008518 name: polymyalgia rheumatica def: "A syndrome characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck. There is no muscle atrophy and muscle biopsies do not reveal pathologic changes. Additional signs and symptoms include low grade fever, fatigue and depression." [NCIT:P378] def: "Polymyalgia rheumatica is a common inflammatory condition that often affects people over the age of 50 years. Characteristic symptoms are shoulder and hip girdle pain and prolonged morning stiffness. Markers of inflammation are often elevated." [] comment: Polymyalgia rheumatica is a syndrome with pain or stiffness, usually in the neck, shoulders, upper arms, and hips, but which may occur all over the body. subset: ordo_disease {source="Orphanet:93569"} synonym: "polymyalgia rheumatica" EXACT [DOID:853, ICD9CM:725] synonym: "polymyalgia rheumatica" EXACT [] {comment="preferred label from MONDO"} synonym: "rhizomelic pseudopolyarthritis" EXACT [Orphanet:93569] xref: DOID:853 {source="MONDO:equivalentTo"} xref: ICD10:M35.3 xref: ICD9:725 {source="DOID:853", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10036099 xref: MedDRA:10068240 {source="Orphanet:93569/e", source="Orphanet:93569"} xref: MESH:D011111 {source="DOID:853", source="MONDO:equivalentTo"} xref: MeSH:D011111 xref: MONDO:0019735 xref: NCIT:C85018 {source="DOID:853", source="MONDO:equivalentTo"} xref: NCIt:C85018 xref: Orphanet:93569 {source="MONDO:equivalentTo"} xref: SCTID:65323003 {source="DOID:853", source="MONDO:equivalentTo"} xref: SNOMEDCT:65323003 xref: UMLS:C0032533 {source="DOID:853", source="NCIT:C85018", source="MONDO:equivalentTo", source="Orphanet:93569"} xref: UMLS:C1527406 {source="Orphanet:93569/e", source="MONDO:equivalentTo", source="Orphanet:93569"} is_a: EFO:0004145 ! myopathy is_a: EFO:0005755 {source="MESH:D011111", source="MONDO:Redundant", source="NCIT:C85018", source="Orphanet:93569"} ! rheumatic disease is_a: MONDO:0002254 {source="NCIT:C85018"} ! syndromic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015940"} ! rare property_value: closeMatch http://identifiers.org/meddra/10068240 property_value: definition:citation https://doi.org/10.1177/1759720X13512450 xsd:string property_value: exactMatch DOID:853 property_value: exactMatch http://identifiers.org/mesh/D011111 property_value: exactMatch http://identifiers.org/snomedct/65323003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032533 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1527406 property_value: exactMatch NCIT:C85018 property_value: exactMatch Orphanet:93569 property_value: excluded_subClassOf MONDO:0005336 {source="DOID:853"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0008519 name: primary hyperparathyroidism def: "Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones." [NCIT:P378] def: "Primary hyperparathyroidism is a common disorder in which parathyroid hormone is excessively secreted from one or more of the four parathyroid glands." [] comment: Editor note: check relationship to parent and familiar form synonym: "primary hyperparathyroidism" EXACT [MONDO:ambiguous, NCIT:C48280] synonym: "primary hyperparathyroidism" EXACT [] {comment="preferred label from MONDO"} synonym: "primary hyperparathyroidism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:11202 {source="MONDO:equivalentTo"} xref: HP:0008200 {source="MONDO:otherHierarchy"} xref: ICD10:E21.0 xref: ICD9:252.01 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11202"} xref: MedDRA:10036693 xref: MESH:D049950 {source="MONDO:equivalentTo", source="DOID:11202"} xref: MeSH:D049950 xref: MONDO:0010837 xref: NCIT:C48280 {source="MONDO:equivalentTo", source="DOID:11202"} xref: NCIt:C48280 xref: OMIM:600166 xref: ORDO:99878 xref: Orphanet:99878 {source="MONDO:relatedTo", source="DOID:11202"} xref: SCTID:36348003 {source="MONDO:equivalentTo", source="DOID:11202"} xref: SNOMEDCT:36348003 xref: UMLS:C0221002 is_a: EFO:0008506 {source="DOID:11202", source="EFO:0008519", source="MESH:D049950", source="MONDO:Redundant", source="NCIT:C48280"} ! hyperparathyroidism property_value: definition:citation https://doi.org/10.1038/nrdp.2016.33 xsd:string property_value: exactMatch DOID:11202 property_value: exactMatch http://identifiers.org/mesh/D049950 property_value: exactMatch http://identifiers.org/snomedct/36348003 property_value: exactMatch NCIT:C48280 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Huerta" xsd:string property_value: IAO:0000589 "primary hyperparathyroidism (disease)" xsd:string property_value: relatedMatch Orphanet:99878 [Term] id: EFO:0008520 name: primary progressive multiple sclerosis def: "A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous." [DOID:0050784, http://www.mayoclinic.org/multiple-sclerosis/types.html, http://www.nationalmssociety.org/about-multiple-sclerosis/progressive-ms/primary-progressive-ms/index.aspx] def: "Primary progressive multiple sclerosis is the form of the multiple sclerosis in which clinical disability progression occurs continuously without remissions." [] synonym: "multiple sclerosis primary progressive" EXACT [] synonym: "PPMS" EXACT ABBREVIATION [DOID:0050784] synonym: "primary progressive multiple sclerosis" EXACT [] {comment="preferred label from MONDO"} synonym: "primary-progressive MS" EXACT [DOID:0050784] synonym: "primary-progressive multiple sclerosis" EXACT [] xref: DOID:0050784 {source="MONDO:equivalentTo"} xref: MedDRA:10063401 xref: MeSH:D020528 xref: MONDO:0000451 xref: SCTID:428700003 {source="DOID:0050784", source="MONDO:equivalentTo"} xref: SNOMEDCT:428700003 xref: UMLS:C0751964 {source="DOID:0050784", source="MONDO:equivalentTo"} is_a: EFO:0003840 ! chronic progressive multiple sclerosis property_value: definition:citation https://doi.org/10.2147/NDT.S132079 xsd:string property_value: exactMatch DOID:0050784 property_value: exactMatch http://identifiers.org/snomedct/428700003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751964 property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0008521 name: rhinitis def: "An inflammation of the mucous membrane lining the nose, usually associated with nasal discharge." [NCIT:C34986] def: "Rhinitis is an inflammation of the lining of the nose. It is defined clinically as symptoms of runny nose itching, sneezing and nasal blockage (congestion)." [] comment: Rhinitis, also known as coryza, is irritation and inflammation of the mucous membrane inside the nose. Common symptoms are a stuffy nose, runny nose, sneezing, and post-nasal drip. synonym: "inflammation of nasal cavity mucosa" EXACT [] synonym: "nasal cavity mucosa inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "rhinitis" EXACT [] {comment="preferred label from MONDO"} synonym: "runny nose" RELATED [DOID:4483] xref: DOID:4483 {source="MONDO:equivalentTo"} xref: ICD10:J31 xref: ICD10CM:J30 {source="MONDO:equivalentTo"} xref: MedDRA:10039083 xref: MESH:D012220 {source="MONDO:equivalentTo", source="DOID:4483"} xref: MeSH:D012220 xref: MONDO:0003014 xref: NCIT:C34986 {source="MONDO:equivalentTo", source="DOID:4483"} xref: NCIt:C34986 xref: SCTID:70076002 {source="MONDO:equivalentTo", source="DOID:4483"} xref: SNOMEDCT:70076002 xref: UMLS:C0035455 {source="MONDO:equivalentTo", source="NCIT:C34986", source="DOID:4483"} is_a: EFO:0009903 ! inflammatory disease is_a: MONDO:0002232 {source="DOID:4483", source="NCIT:C34986/inferred"} ! nasal cavity disorder property_value: definition:citation http://www.bsaci.org/resources/rhinitis xsd:string property_value: exactMatch DOID:4483 property_value: exactMatch http://identifiers.org/mesh/D012220 property_value: exactMatch http://identifiers.org/snomedct/70076002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035455 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/J30 property_value: exactMatch NCIT:C34986 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0008522 name: secondary progressive multiple sclerosis def: "A multiple sclerosis with a clinical course characterized by a progressive accumulation of neurological disability, independent of relapses, following an initial relapsing-remitting (RR) phase." [PMID:27166830] def: "Secondary progressive multiple sclerosis is the form of the multiple sclerosis in which an initial relapsing-remitting phase is followed by a progressive phase – defined as an accumulation of disability regardless of relapses, with or without persistence of superimposed relapses." [] synonym: "multiple sclerosis secondary progressive" EXACT [] synonym: "secondary progressive multiple sclerosis" EXACT [] {comment="preferred label from MONDO"} synonym: "secondary-progressive MS" EXACT [DOID:0050783, PMID:27166830] synonym: "secondary-progressive multiple sclerosis" EXACT [] synonym: "SPMS" EXACT ABBREVIATION [DOID:0050783, PMID:27166830] xref: DOID:0050783 {source="MONDO:equivalentTo"} xref: MedDRA:10063400 xref: MeSH:D020528 xref: MONDO:0000450 xref: SCTID:425500002 {source="DOID:0050783", source="MONDO:equivalentTo"} xref: SNOMEDCT:425500002 xref: UMLS:C0751965 {source="DOID:0050783", source="MONDO:equivalentTo"} is_a: EFO:0003840 ! chronic progressive multiple sclerosis property_value: definition:citation https://doi.org/10.2147/NDT.S132079 xsd:string property_value: exactMatch DOID:0050783 property_value: exactMatch http://identifiers.org/snomedct/425500002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751965 property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0008523 name: sessile serrated polyp def: "A sessile serrated polyp is a serrated polyp that demonstrates abnormal cellular proliferation characterized by a proximally displaced proliferative zone, epithelial serrations, and characteristic distorted basilar crypt architecture with crypt dilation, branching, and lateral growth along the muscularis mucosa." [] comment: A sessile serrated adenoma, also known as sessile serrated polyp, is a premalignant flat (or sessile) lesion of the colon, predominantly seen in the cecum and ascending colon. synonym: "serrated adenoma type I" EXACT [] synonym: "serrated polyp with abnormal proliferation" EXACT [] synonym: "sessile serrated adenoma/polyp" EXACT [] synonym: "sessile serrated polyp/adenoma" EXACT [] xref: NCIt:C96414 xref: SNOMEDCT:443157008 xref: UMLS:C2732618 is_a: EFO:1000217 ! Digestive System Adenoma property_value: definition:citation https://doi.org/10.1038/ctg.2016.60 xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0008524 name: small cell carcinoma def: "A neuroendocrine carcinoma composed of small malignant cells which are often said to resemble \"oat cells\" under the microscope. Small cell carcinoma most often affects the lungs. Clinically, this is often a rapidly growing cancer that spreads to distant sites early." [NCIT:C3915] synonym: "intermediate cell small cell carcinoma" RELATED [DOID:0050685] synonym: "oat cell cancer" EXACT [NCIT:C3915] synonym: "oat cell carcinoma" EXACT [NCIT:C3915] synonym: "small cell cancer" EXACT [NCIT:C3915] synonym: "small cell car. (extrapulmonary)" EXACT [NCIT:C3915] synonym: "small cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "small cell carcinoma" EXACT [NCIT:C3915] synonym: "small cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "small cell carcinoma (extrapulmonary)" EXACT [NCIT:C3915] synonym: "small cell carcinoma - intermediate cell" RELATED [DOID:0050685] synonym: "small cell carcinoma, intermediate cell" RELATED [DOID:0050685] synonym: "small cell carcinoma, intermediate cell (morphologic abnormality)" RELATED [DOID:0050685] synonym: "small cell NEC" EXACT [NCIT:C3915] synonym: "small cell neuroendocrine carcinoma" EXACT [NCIT:C3915] xref: DOID:0050685 {source="MONDO:equivalentTo"} xref: EFO:0008524 {source="MONDO:equivalentTo"} xref: https://doi.org/10.1186/2162-3619-4-2 xref: ICDO:8041/3 {source="NCIT:C3915"} xref: ICDO:8042/3 {source="NCIT:C3915"} xref: MESH:D018288 {source="MONDO:equivalentTo"} xref: MONDO:0000402 xref: NCIT:C3915 {source="MONDO:equivalentTo"} xref: NCIT:C4099 {source="DOID:0050685", source="MONDO:relatedTo"} xref: SCTID:11010461000119101 {source="MONDO:equivalentTo"} xref: UMLS:C0334239 {source="DOID:0050685", source="MONDO:equivalentTo"} is_a: MONDO:0002120 {source="NCIT:C3915"} ! neuroendocrine carcinoma property_value: closeMatch http://identifiers.org/snomedct/189557009 property_value: closeMatch http://identifiers.org/snomedct/5958006 property_value: closeMatch NCIT:C4099 property_value: exactMatch DOID:0050685 property_value: exactMatch DOID:0050685 property_value: exactMatch http://identifiers.org/mesh/D018288 property_value: exactMatch http://identifiers.org/mesh/D018288 property_value: exactMatch http://identifiers.org/snomedct/11010461000119101 property_value: exactMatch http://identifiers.org/snomedct/11010461000119101 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334239 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334239 property_value: exactMatch NCIT:C3915 property_value: exactMatch NCIT:C3915 property_value: relatedMatch NCIT:C4099 [Term] id: EFO:0008525 name: spinal muscular atrophy def: "Spinal muscular atrophy (SMA) refers to a group of inherited conditions that affect the muscles. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with SMA experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1, BICD2, or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/7674/spinal-muscular-atrophy] def: "Spinal muscular atrophy is a disorder of spinal motor neurons characterized clinically by the development of muscle weakness and atrophy." [] subset: gard_rare {source="GARD:0007674"} synonym: "spinal muscular atrophy" EXACT [] {comment="preferred label from MONDO"} xref: DOID:12377 {source="MONDO:equivalentTo"} xref: ICD10:G12.9 xref: ICD9:335.1 {source="DOID:12377"} xref: ICD9:335.10 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12377"} xref: ICD9:335.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10041582 xref: MedDRA:10041583 xref: MedDRA:10080264 xref: MESH:D009134 {source="MONDO:equivalentTo", source="DOID:12377"} xref: MeSH:D009134 xref: MONDO:0001516 xref: NCIT:C85075 {source="MONDO:equivalentTo", source="DOID:12377"} xref: NCIt:C85075 xref: SCTID:5262007 {source="MONDO:equivalentTo", source="DOID:12377"} xref: SNOMEDCT:5262007 xref: UMLS:C0026847 {source="MONDO:equivalentTo", source="NCIT:C85075", source="DOID:12377"} is_a: EFO:0003782 {source="DOID:12377", source="EFO:0008525", source="MESH:D009134"} ! motor neuron disease is_a: MONDO:0003182 {source="Wikipedia:Anterior_horn_disease"} ! anterior horn disorder property_value: definition:citation https://doi.org/10.1093/brain/awr229 xsd:string property_value: exactMatch DOID:12377 property_value: exactMatch http://identifiers.org/mesh/D009134 property_value: exactMatch http://identifiers.org/snomedct/5262007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026847 property_value: exactMatch NCIT:C85075 property_value: excluded_subClassOf MONDO:0005336 {source="NCIT:C85075"} property_value: IAO:0000117 "Laura Huerta" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7674/spinal-muscular-atrophy xsd:anyURI {source="GARD:0007674"} [Term] id: EFO:0008526 name: status epilepticus def: "A life-threatening situation in which the brain is in a continuous state of seizure." [NCIT:P378] def: "Status epilepticus is defined as a continuous seizure lasting more than 30 min, or two or more seizures without full recovery of consciousness between any of them." [] comment: Status epilepticus is a single epileptic seizure lasting more than five minutes or two or more seizures within a five-minute period without the person returning to normal between them. subset: gard_rare {source="GARD:0010191"} synonym: "GCSE" RELATED ABBREVIATION [GARD:0010191] synonym: "generalised convulsive status epilepticus" RELATED OMO:0003005 [] synonym: "generalized convulsive status epilepticus" RELATED [GARD:0010191] synonym: "grand mal status" EXACT [DOID:1824] synonym: "SE" RELATED ABBREVIATION [GARD:0010191] synonym: "status epilepticus" EXACT [] {comment="preferred label from MONDO"} xref: DOID:1824 {source="MONDO:equivalentTo"} xref: ICD10:G41 xref: MedDRA:10041962 xref: MESH:D013226 {source="MONDO:equivalentTo", source="DOID:1824"} xref: MeSH:D013226 xref: MONDO:0002125 xref: NCIT:C85079 {source="MONDO:equivalentTo", source="DOID:1824"} xref: NCIt:C85079 xref: SCTID:230456007 {source="MONDO:equivalentTo", source="DOID:1824"} xref: SNOMEDCT:230456007 xref: UMLS:C0038220 {source="MONDO:equivalentTo", source="NCIT:C85079", source="DOID:1824"} is_a: EFO:0000474 {source="DOID:1824", source="EFO:0008526", source="MESH:D013226"} ! epilepsy property_value: definition:citation https://doi.org/10.4103/0972-2327.56312 xsd:string property_value: exactMatch DOID:1824 property_value: exactMatch http://identifiers.org/mesh/D013226 property_value: exactMatch http://identifiers.org/snomedct/230456007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038220 property_value: exactMatch NCIT:C85079 property_value: IAO:0000117 "Laura Huerta" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10191/status-epilepticus xsd:anyURI {source="GARD:0010191"} [Term] id: EFO:0008527 name: steatosis def: "Increased lipid within the cytoplasm of cells." [] comment: Steatosis, also called fatty change, is the process describing the abnormal retention of lipids within a cell. It reflects an impairment of the normal processes of synthesis and elimination of triglyceride fat. Excess lipid accumulates in vesicles that displace the cytoplasm. synonym: "fatty change" EXACT [] xref: NCIt:C36185 xref: UMLS:C0152254 is_a: EFO:0008513 ! morphologic finding property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:0008528 name: urothelial carcinoma def: "A malignant neoplasm derived from the transitional epithelium of the urinary tract (urinary bladder, ureter, urethra, or renal pelvis). It is frequently papillary." [NCIT:C4030] synonym: "transitional cell car. -uroth." EXACT [NCIT:C4030] synonym: "transitional cell carcinoma of the urinary tract" EXACT [NCIT:C4030] synonym: "transitional cell carcinoma of the urothelial tract" EXACT [NCIT:C4030] synonym: "Uroepithelial carcinoma" EXACT [NCIT:C4030] synonym: "urothelial carcinoma" EXACT [NCIT:C4030] synonym: "urothelial carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "urothelial carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:0008528 {source="MONDO:equivalentTo"} xref: MONDO:0040679 xref: NCIT:C4030 {source="MONDO:equivalentTo"} xref: UMLS:C2145472 {source="NCIT:C4030", source="MONDO:equivalentTo"} is_a: EFO:1000363 {source="MONDO:Redundant", source="NCIT:C4030"} ! Malignant Urinary System Neoplasm is_a: EFO:1000601 {source="EFO:0008528", source="MONDO:Redundant", source="NCIT:C4030"} ! Transitional Cell Carcinoma is_a: MONDO:0024337 {source="NCIT:C4030"} ! urothelial neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2145472 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2145472 property_value: exactMatch NCIT:C4030 property_value: exactMatch NCIT:C4030 [Term] id: EFO:0008529 name: kynurenine measurement def: "Quatification of plasma levels of kynurenine, a ketone that is alanine in which one of the methyl hydrogens is substituted by a 2-aminobenzoyl group." [] synonym: "KYN" EXACT [] xref: PMID:29317604 is_a: EFO:0005134 ! amino acid measurement relationship: IAO:0000136 CHEBI:28683 ! is_about kynurenine property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0008530 name: kynurenine:tryptophan ratio def: "Quantification of the ration of kynurenine to tryptophan in plasma." [] synonym: "KYN:TRP" EXACT [] xref: PMID:29317604 is_a: EFO:0008529 ! kynurenine measurement relationship: IAO:0000136 CHEBI:27897 ! is_about tryptophan property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0008531 name: GLP-1-stimulated insulin response def: "Quantification of insulin release in response to stimulation with GLP-1, typically measured under hyperglycemic clamp." [] synonym: "glucagon-like-peptide-1-stimulated insulin response" EXACT [] xref: PMID:29293525 is_a: EFO:0004467 ! insulin measurement relationship: IAO:0000136 GO:0042593 ! is_about glucose homeostasis relationship: IAO:0000136 MONDO:0005148 ! is_about type 2 diabetes mellitus relationship: IAO:0000136 UBERON:0000016 ! is_about endocrine pancreas property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008532 name: clinically amyopathic dermatomyositis def: "Subset of dermatomyositis that lacks distinct muscle features and often manifests rapidly progressive interstitial pneumonia (RPIP)." [] synonym: "CADM" EXACT [] xref: PMID:29331962 is_a: EFO:0000398 ! dermatomyositis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0008533 name: dyspepsia def: "An uncomfortable, often painful feeling in the stomach, resulting from impaired digestion. Symptoms include burning stomach pain, bloating, heartburn, nausea, and vomiting. Causes include gastritis, gastric ulcer, gastroesophageal reflux disease, pancreatic disease, and gallbladder disease." [NCIT:C26756] def: "An uncomfortable, often painful feeling in the stomach, resulting from impaired digestion. Symptoms include burning stomach pain, bloating, heartburn, nausea, and vomiting. Causes include gastritis, gastric ulcer, gastroesophageal reflux disease, pancreatic disease, and gallbladder disease. [ NCIt:C26756 ]" [] synonym: "dyspepsia" EXACT [] {comment="preferred label from MONDO"} synonym: "dyspepsia, indigestion" EXACT [DOID:2321] synonym: "indigestion" EXACT [DOID:2321] synonym: "indigestion NOS" EXACT [] xref: DOID:2321 {source="MONDO:equivalentObsolete"} xref: ICD10:K30 xref: ICD10:R10.13 xref: ICD10:R12 xref: MedDRA:10013946 xref: MESH:D004415 {source="DOID:2321", source="MONDO:equivalentTo"} xref: MeSH:D004415 xref: MONDO:0002268 xref: NCIT:C26756 {source="DOID:2321", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="MONDO:exact-label-match"} xref: NCIt:C26756 xref: SNOMEDCT:139299007 xref: SNOMEDCT:155722007 xref: SNOMEDCT:162031009 xref: SNOMEDCT:196752002 xref: SNOMEDCT:249510006 xref: SNOMEDCT:266505001 xref: SNOMEDCT:87548005 xref: UMLS:C0013395 is_a: MONDO:0001318 {source="DOID:2321"} ! functional gastric disease property_value: exactMatch http://identifiers.org/mesh/D004415 property_value: exactMatch NCIT:C26756 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0008534 name: tryptophan measurement def: "Quantification of the levels of tryptophan in a sample, typically cerebrospinal fluid or blood" [] xref: PMID:29395996 is_a: EFO:0004725 ! metabolite measurement is_a: EFO:0005134 ! amino acid measurement relationship: IAO:0000136 CHEBI:27897 ! is_about tryptophan property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008535 name: post-traumatic stress disorder symptom measurement def: "Quantification of the severity of post-traumatic stress disorder symptoms, typically quantified as the sum score of items of a diagnostic instrument such as the Semi-Structured Assessment for the Genetics of Alcoholism" [] synonym: "PTSD symptom measurement" EXACT [] xref: PMID:28262088 is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0001358 ! is_about post-traumatic stress disorder property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008536 name: anti-centromere-antibody-positive systemic scleroderma def: "A sub-type of systemic scleroderma characterised by the presence of antibodies to centromere proteins" [] synonym: "ACA-positive systemic scleroderma" EXACT [] synonym: "ACA-positive systemic sclerosis" EXACT [] synonym: "anti-centromere-antibody-positive systemic sclerosis" EXACT [] is_a: EFO:0000717 ! systemic scleroderma property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008537 name: anti-topoisomerase-I-antibody-positive systemic scleroderma def: "A sub-type of systemic scleroderma characterised by the presence of antibodies to topoisomerase-1 protein" [] synonym: "anti-topoisomerase-1-antibody-positive systemic scleroderma" EXACT [] synonym: "anti-topoisomerase-1-antibody-positive systemic sclerosis" EXACT [] synonym: "anti-topoisomerase-I-antibody-positive systemic sclerosis" EXACT [] synonym: "ATA-positive systemic scleroderma" EXACT [] synonym: "ATA-positive systemic sclerosis" EXACT [] is_a: EFO:0000717 ! systemic scleroderma property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008538 name: helping behavior measurement def: "Quantification of some aspect of helping behavior, for example helping others without being paid. Helping behavior is an example of prosocial behavior." [] synonym: "helpfulness measurement" EXACT [] xref: PMID:29324852 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:0008540 ! is_about helping behaviour property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0008539 name: vitamin D dietary intake measurement def: "Quantification of dietary vitamin D intake." [] xref: PMID:29343764 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0008111 ! diet measurement relationship: IAO:0000136 CHEBI:27300 ! is_about vitamin D property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0008540 name: helping behaviour def: "Some aspect of helping behavior, for example helping others without being paid. Helping behavior is an example of prosocial behavior." [] is_a: GO:0007610 ! behavior property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0008541 name: response to opioid def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an opioid stimulus. Opioids include opiates, an older term that refers to such drugs derived from opium, including morphine itself. Other opioids are semi-synthetic and synthetic drugs such as hydrocodone, oxycodone and fentanyl; antagonist drugs such as naloxone; and endogenous peptides such as the endorphins." [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008542 name: complement C3d subcomponent measurement def: "Quantification of the amount of complement C3d subcomponent in a blood sample." [] xref: PMID:29398083 is_a: EFO:0004503 ! hematological measurement is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 BTO:0000133 ! is_about blood serum property_value: IAO:0000117 "Annalisa buniello" xsd:string [Term] id: EFO:0008543 name: c3d:C3 ratio def: "Quantification of the ratio of complement C3d to C3 in a blood sample. This measure is a biomarker for systemic complement activation." [] xref: PMID:29398083 is_a: EFO:0004503 ! hematological measurement is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 BTO:0000133 ! is_about blood serum property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa buniello" xsd:string [Term] id: EFO:0008544 name: analgesia requirement measurement def: "Quantification of the amount of analgesic drug required during a painful procedure such as surgery." [] xref: PMID:29207912 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:0003843 ! is_about pain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008545 name: Malignant Breast Phyllodes Tumor def: "A phyllodes tumor of the breast characterized by infiltrative margins and a sarcomatous stromal component. The sarcomatous stroma usually displays features of fibrosarcoma. Liposarcomatous, osteosarcomatous, or rhabdomyosarcomatous elements may also be present." [NCIT:C4504] synonym: "breast malignant phyllodes tumor" RELATED [DOID:3016] synonym: "breast malignant phyllodes tumour" RELATED OMO:0003005 [] synonym: "breast phyllodes tumor, malignant" EXACT [MONDO:patterns/malignant] synonym: "malignant breast phyllodes neoplasm" EXACT [NCIT:C4504] synonym: "malignant breast phyllodes tumor" EXACT [NCIT:C4504] synonym: "malignant breast phyllodes tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "malignant breast phyllodes tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "malignant cystosarcoma phyllodes" RELATED [DOID:3016] synonym: "malignant cystosarcoma phyllodes (morphologic abnormality)" RELATED [DOID:3016] synonym: "malignant cystosarcoma phyllodes of breast" EXACT [NCIT:C4504] synonym: "malignant cystosarcoma phyllodes of the breast" EXACT [NCIT:C4504] synonym: "malignant mammary phyllodes neoplasm" EXACT [NCIT:C4504] synonym: "malignant mammary phyllodes tumor" EXACT [DOID:3016, NCIT:C4504] synonym: "malignant mammary phyllodes tumour" EXACT OMO:0003005 [] synonym: "malignant phyllodes breast neoplasm" EXACT [NCIT:C4504] synonym: "malignant phyllodes neoplasm" BROAD [DOID:3016] synonym: "malignant phyllodes neoplasm of breast" EXACT [NCIT:C4504] synonym: "malignant phyllodes neoplasm of the breast" EXACT [NCIT:C4504] synonym: "malignant phyllodes tumor (morphologic abnormality)" EXACT [DOID:3016] synonym: "malignant phyllodes tumor of breast" EXACT [NCIT:C4504] synonym: "malignant phyllodes tumor of the breast" EXACT [NCIT:C4504] synonym: "malignant phyllodes tumour" RELATED OMO:0003005 [] synonym: "malignant phyllodes tumour (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "malignant phyllodes tumour of breast" EXACT OMO:0003005 [] synonym: "malignant phyllodes tumour of the breast" EXACT OMO:0003005 [] synonym: "phyllodes breast neoplasm" BROAD [DOID:3016] synonym: "phyllodes breast neoplasm" EXACT [DOID:3016] synonym: "phyllodes breast tumor" BROAD [DOID:3016] synonym: "phyllodes breast tumor" EXACT [DOID:3016] synonym: "phyllodes breast tumour" BROAD OMO:0003005 [] synonym: "phyllodes tumor, malignant (morphologic abnormality)" BROAD [DOID:3016] xref: DOID:3016 {source="MONDO:equivalentTo"} xref: EFO:0008545 {source="https://github.com/EBISPOT/efo/issues/51", source="MONDO:equivalentTo"} xref: MONDO:0002489 xref: NCIT:C4504 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C4504 {source="MONDO:equivalentTo", source="exact-label-match"} xref: ONCOTREE:MPT {source="MONDO:equivalentTo"} xref: SCTID:254844000 {source="DOID:3016", source="MONDO:equivalentTo"} is_a: MONDO:0007254 {source="DOID:3016", source="MONDO:Redundant", source="NCIT:C4504"} ! breast cancer is_a: MONDO:0021047 {source="MONDO:Redundant", source="NCIT:C4504", source="ONCOTREE:MPT"} ! breast phyllodes tumor is_a: MONDO:0037003 {source="MONDO:Redundant", source="NCIT:C4504"} ! malignant phyllodes tumor relationship: EFO:0000784 UBERON:0001911 ! has_disease_location mammary gland property_value: closeMatch http://identifiers.org/snomedct/134331008 property_value: closeMatch http://identifiers.org/snomedct/189826001 property_value: closeMatch http://identifiers.org/snomedct/87913009 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0238031 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0346154 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0600066 property_value: exactMatch DOID:3016 property_value: exactMatch DOID:3016 property_value: exactMatch http://identifiers.org/snomedct/254844000 property_value: exactMatch http://identifiers.org/snomedct/254844000 property_value: exactMatch NCIT:C4504 property_value: exactMatch NCIT:C4504 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/malignant.yaml [Term] id: EFO:0008546 name: poisoning def: "A condition or physical state produced by the ingestion, injection, inhalation of or exposure to a deleterious agent." [MESH:D011041] subset: harrisons_view subset: rare_grouping synonym: "intoxication" RELATED [] synonym: "poisoning" EXACT [] {comment="preferred label from MONDO"} synonym: "poisoning syndrome" RELATED [] synonym: "Poisonings" RELATED [MESH:D011041] xref: ICD10:T39 xref: ICD10:T40 xref: ICD10:T42 xref: ICD10:T43 xref: ICD10:T50 xref: ICD10:T97 xref: ICD10:T98 xref: MedDRA:10061355 xref: MESH:D011041 {source="MONDO:equivalentTo"} xref: MeSH:D011041 xref: MONDO:0029000 xref: NCIt:C34933 xref: SCTID:75478009 {source="MONDO:equivalentTo"} xref: UMLS:C0032343 xref: UMLS:C0302332 {source="MONDO:equivalentTo"} is_a: EFO:0000408 ! disease property_value: exactMatch http://identifiers.org/mesh/D011041 property_value: exactMatch http://identifiers.org/snomedct/75478009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0302332 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0008549 name: digestive system neoplasm def: "A neoplasm (disease) that involves the digestive system." [MONDO:patterns/location] synonym: "digestive neoplasm" EXACT [NCIT:C3052] synonym: "digestive system neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "digestive system neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "digestive system neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "digestive system tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3052] synonym: "digestive system tumour" EXACT OMO:0003005 [] synonym: "digestive tumor" EXACT [NCIT:C3052] synonym: "digestive tumour" EXACT OMO:0003005 [] synonym: "gastrointestinal neoplasm" EXACT [NCIT:C3052] synonym: "gastrointestinal system neoplasm" EXACT [NCIT:C3052] synonym: "gastrointestinal system tumor" EXACT [NCIT:C3052] synonym: "gastrointestinal system tumour" EXACT OMO:0003005 [] synonym: "gastrointestinal tumor" EXACT [NCIT:C3052] synonym: "gastrointestinal tumour" EXACT OMO:0003005 [] synonym: "GI neoplasm" EXACT [NCIT:C3052] synonym: "GI system neoplasm" EXACT [NCIT:C3052] synonym: "GI system tumor" EXACT [NCIT:C3052] synonym: "GI system tumour" EXACT OMO:0003005 [] synonym: "GI tumor" EXACT [NCIT:C3052] synonym: "GI tumour" EXACT OMO:0003005 [] synonym: "neoplasm of digestive system" EXACT [MONDO:patterns/neoplasm, NCIT:C3052] synonym: "neoplasm of gastrointestinal system" EXACT [NCIT:C3052] synonym: "neoplasm of GI system" EXACT [NCIT:C3052] synonym: "neoplasm of the digestive system" EXACT [NCIT:C3052] synonym: "neoplasm of the gastrointestinal system" EXACT [NCIT:C3052] synonym: "neoplasm of the GI system" EXACT [NCIT:C3052] synonym: "tumor of digestive system" EXACT [MONDO:patterns/neoplasm, NCIT:C3052] synonym: "tumor of gastrointestinal system" EXACT [NCIT:C3052] synonym: "tumor of GI system" EXACT [NCIT:C3052] synonym: "tumor of the digestive system" EXACT [NCIT:C3052] synonym: "tumor of the gastrointestinal system" EXACT [NCIT:C3052] synonym: "tumor of the GI system" EXACT [NCIT:C3052] synonym: "tumour of digestive system" EXACT OMO:0003005 [] synonym: "tumour of gastrointestinal system" EXACT OMO:0003005 [] synonym: "tumour of GI system" EXACT OMO:0003005 [] synonym: "tumour of the digestive system" EXACT OMO:0003005 [] synonym: "tumour of the gastrointestinal system" EXACT OMO:0003005 [] synonym: "tumour of the GI system" EXACT OMO:0003005 [] xref: EFO:0008549 {source="MONDO:equivalentTo"} xref: MESH:D005770 {source="MONDO:equivalentTo"} xref: MONDO:0021223 xref: NCIT:C3052 {source="MONDO:equivalentTo"} is_a: EFO:0000616 {source="EFO:0008549", source="MESH:D005770/inferred", source="MONDO:Redundant", source="NCIT:C3052/inferred"} ! neoplasm property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0017185 property_value: exactMatch http://identifiers.org/mesh/D005770 property_value: exactMatch http://identifiers.org/mesh/D005770 property_value: exactMatch NCIT:C3052 property_value: exactMatch NCIT:C3052 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/neoplasm.yaml created_by: paolaroncaglia creation_date: 2018-03-14T10:10:48Z [Term] id: EFO:0008550 name: Hepatobiliary Neoplasm def: "A benign or malignant neoplasm that affects the liver parenchyma, bile ducts, and gallbladder. Representative examples of benign neoplasms include hepatocellular adenoma, bile duct adenoma, and gallbladder lipoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic and extrahepatic cholangiocarcinoma, and gallbladder carcinoma." [NCIT:C8614] synonym: "hepatic and biliary neoplasms" EXACT [NCIT:C8614] synonym: "hepatic and biliary tumors" EXACT [NCIT:C8614] synonym: "hepatic and biliary tumours" EXACT OMO:0003005 [] synonym: "hepatic, biliary, and gallbladder neoplasms" EXACT [NCIT:C8614] synonym: "hepato-biliary neoplasm" EXACT [NCIT:C8614] synonym: "hepato-biliary tumor" EXACT [NCIT:C8614] synonym: "hepato-biliary tumour" EXACT OMO:0003005 [] synonym: "hepatobiliary benign neoplasm" NARROW [DOID:3117] synonym: "hepatobiliary benign neoplasm" RELATED [DOID:3117] synonym: "hepatobiliary neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "hepatobiliary neoplasm" EXACT [NCIT:C8614] synonym: "hepatobiliary neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "hepatobiliary system neoplasm" EXACT [] synonym: "hepatobiliary system neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "hepatobiliary system tumor" EXACT [MONDO:patterns/neoplasm] synonym: "hepatobiliary system tumour" EXACT OMO:0003005 [] synonym: "hepatobiliary tumor" EXACT [NCIT:C8614] synonym: "hepatobiliary tumors" EXACT [NCIT:C8614] synonym: "hepatobiliary tumors" EXACT [DOID:3117, NCIT:C8614] synonym: "hepatobiliary tumour" EXACT OMO:0003005 [] synonym: "hepatobiliary tumours" EXACT OMO:0003005 [] synonym: "liver and biliary neoplasm" EXACT [NCIT:C8614] synonym: "liver and biliary system neoplasm" EXACT [NCIT:C8614] synonym: "neoplasm of hepatobiliary system" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of hepatobiliary system" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of hepatobiliary system" EXACT OMO:0003005 [] xref: DOID:0080355 {source="MONDO:equivalentTo"} xref: DOID:3117 {source="MONDO:equivalentTo"} xref: DOID:3117 {source="MONDO:mondoIsBroaderThanSource"} xref: EFO:0008550 {source="MONDO:equivalentTo"} xref: MONDO:0002514 xref: NCIT:C8614 {source="DOID:3117", source="MONDO:equivalentTo"} xref: UMLS:C0854196 {source="DOID:3117", source="MONDO:equivalentTo", source="NCIT:C8614"} is_a: EFO:0008549 {source="EFO:0008550", source="MONDO:Redundant", source="NCIT:C8614"} ! digestive system neoplasm is_a: EFO:0010284 ! hepatobiliary disease relationship: EFO:0000784 UBERON:0002423 ! has_disease_location hepatobiliary system property_value: exactMatch DOID:0080355 property_value: exactMatch DOID:3117 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0854196 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0854196 property_value: exactMatch NCIT:C8614 property_value: exactMatch NCIT:C8614 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/neoplasm.yaml created_by: paolaroncaglia creation_date: 2018-03-14T10:31:16Z [Term] id: EFO:0008553 name: femur fracture def: "A traumatic or pathologic injury to the femur in which the continuity of the femur is broken. [ NCI ]" [] synonym: "Fracture of Femur" EXACT [] xref: ICD10:S72 xref: MedDRA:10016454 xref: NCIt:C26774 xref: UMLS:C0015802 is_a: EFO:0009512 ! lower extremity fracture relationship: EFO:0000784 UBERON:0000981 ! has_disease_location femur property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0008555 name: Methicillin-Resistant Staphylococcus Aureus Infection def: "A bacterial infection that is caused by Staphylococcus aureus and is resistant to methicillin treatment. [ NCI ]" [] def: "Infections caused by a strain of Staphylococcus aureus that is non-susceptible to the action of the antibiotic, methicillin. The mechanism of resistance usually involves modification of normal or the presence of acquired penicillin binding proteins." [https://orcid.org/0000-0002-1382-4768, MESH:D055624] synonym: "infection by MRSA" EXACT [] synonym: "Infection, MRSA" EXACT [] synonym: "Methicillin-resistant Staphylococcus aureus (MRSA) infection" EXACT [] synonym: "methicillin-resistant Staphylococcus aureus (MSSA) bacteremia" EXACT [] synonym: "methicillin-resistant staphylococcus aureus infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "MRSA" EXACT ABBREVIATION [] synonym: "MRSA bacteremia" EXACT [] synonym: "MRSA bacteremias" EXACT [] synonym: "MRSA infection" EXACT [] xref: MedDRA:10027508 xref: MONDO:0100073 xref: NCIt:C115248 is_a: EFO:0005681 ! Staphylococcus aureus infection property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0008556 name: Methicillin-Resistant Staphylococcus Aureus Pneumonia def: "Pneumonia that is caused by Staphylococcus aureus and is resistant to methicillin treatment. [ NCI ]" [] synonym: "Methicillin-Resistant Staphylococcus Aureus Pneumonia" EXACT [] synonym: "Methicillin-Resistant Staphylococcus aureus Pneumonia" EXACT [] synonym: "MRSA Pneumonia" EXACT [] xref: MedDRA:10058931 xref: NCIt:C122523 is_a: EFO:0003106 ! pneumonia is_a: EFO:0008555 ! Methicillin-Resistant Staphylococcus Aureus Infection property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0008557 name: Methicillin-Susceptible Staphylococcus Aureus Infection def: "A bacterial infection that is caused by Staphylococcus aureus and can be treated by methicillin class antibiotics." [] synonym: "infection by MSSA" EXACT [] synonym: "methicillin-susceptible S. aureus (MSSA) infection" EXACT [] synonym: "methicillin-susceptible Staphylococcus aureus (MSSA) bacteremia" EXACT [] synonym: "Methicillin-susceptible Staphylococcus aureus (MSSA) infection" EXACT [] synonym: "MSSA" EXACT [] synonym: "MSSA bacteremia" EXACT [] synonym: "MSSA bacteremias" EXACT [] synonym: "MSSA infection" EXACT [] is_a: EFO:0005681 ! Staphylococcus aureus infection property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0008558 name: Vancomycin-Resistant Staphylococcus Aureus Infection def: "A bacterial infection that is caused by Staphylococcus aureus and is resistant to vancomycin treatment." [] synonym: "infection by VRSA" EXACT [] synonym: "slow-intermediate vancomycin-resistant S. aureus (sVISA)" EXACT [] synonym: "Vancomycin-Resistant S. Aureus (VRSA) infection" EXACT [] synonym: "vancomycin-resistant Staphylococcus aureus (VRSA)" EXACT [] synonym: "Vancomycin-Resistant Staphylococcus aureus (VRSA) bacteremia" EXACT [] synonym: "Vancomycin-Resistant Staphylococcus aureus (VRSA) infection" EXACT [] synonym: "VRSA" EXACT [] synonym: "VRSA bacteremia" EXACT [] synonym: "VRSA bacteremias" EXACT [] synonym: "VRSA infection" EXACT [] is_a: EFO:0005681 ! Staphylococcus aureus infection property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0008559 name: American trypanosomiasis def: "A parasitic infection caused by Trypanosoma cruzi. It is transmitted by insect bites. It is characterized by an acute and chronic phase; in the acute phase patients may have fever, malaise, and swelling at the site of the insect bite. In the chronic phase patients develop hepatosplenomegaly, lymphadenopathy, cardiomyopathy and arrhythmias. [ NCI ]" [] def: "American trypanosomiasis, commonly known as Chagas disease (ChD), is a tropical disease mainly found in latin America and transmitted by triatomine insects (mostly Triatoma infestans and Rhodnius prolixus and Panstrongylus megistus) harboring the hemoflagellate protozoan parasite Trypanosoma cruzi. The disease is characterized by an acute phase which is either asymptomatic or manifest with fever, inflammation at the inoculation site (inoculation chancre or chagoma), unilateral palpebral edema called the Romaña sign (when the triatomine bite occurs near the eye), enlarged lymph nodes, and splenomegaly. The chronic phase is lifelong and development of chagasic cardiomyopathy (30%; complex arrhythmias, heart failure, and thromboembolic events), digestive (10%; megaoesophagus and megacolon), neurological (10%; stroke, peripheral neuropathy and autonomic dysfunction), or mixed alterations (10%) may be observed. These can all lead to high morbidity and mortality rates. [ ORDO ]" [] synonym: "Chagas disease" EXACT [] synonym: "Chagas' Disease" EXACT [] synonym: "human American trypanosomiasis" EXACT [] synonym: "South American trypanosomiasis" EXACT [] synonym: "Trypanosoma cruzi Infection" EXACT [] xref: DOID:12140 xref: ICD10:B57.0 xref: ICD10:B57.1 xref: ICD10:B57.2 xref: ICD10:B57.3 xref: ICD10:B57.4 xref: ICD10:B57.5 xref: ICD9:086.2 xref: MedDRA:10001935 xref: MedDRA:10044706 xref: MeSH:D014355 xref: NCIt:C84629 xref: ORDO:Orphanet_3386 xref: UMLS:C0007932 xref: UMLS:C0041234 is_a: DOID:10113 ! trypanosomiasis property_value: definition:citation KEGG:05142 xsd:string [Term] id: EFO:0008560 name: female infertility def: "Diminished or absent ability of a female to achieve conception." [MESH:D007247] def: "Diminished or absent ability of a female to achieve conception. [ MeSH:D007247 ]" [] synonym: "female infertility" EXACT [MESH:D007247] synonym: "female infertility" EXACT [] {comment="preferred label from MONDO"} synonym: "female reproductive system infertility" EXACT [MONDO:patterns/location] synonym: "female reproductive system infertility disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "female sterility" RELATED [MESH:D007247] synonym: "female sub-fertility" RELATED [MESH:D007247] synonym: "female subfertility" RELATED [MESH:D007247] synonym: "infertility disorder of female reproductive system" EXACT [MONDO:design_pattern] synonym: "postpartum sterility" RELATED [MESH:D007247] synonym: "sterility, female" RELATED [MESH:D007247] synonym: "sterility, postpartum" RELATED [MESH:D007247] synonym: "sub fertility, female" RELATED [MESH:D007247] synonym: "sub-fertility, female" RELATED [MESH:D007247] synonym: "subfertility, female" RELATED [MESH:D007247] xref: HP:0008222 xref: ICD10:N97 xref: ICD10CM:N97 {source="MONDO:equivalentTo"} xref: ICD9:628.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:628.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10016398 xref: MESH:D007247 {source="MONDO:equivalentTo"} xref: MeSH:D007247 xref: MONDO:0021124 xref: MP:0001926 xref: SCTID:6738008 {source="MONDO:equivalentTo"} xref: SNOMEDCT:6738008 xref: UMLS:C0021361 xref: UMLS:C0341869 {source="MONDO:equivalentTo"} is_a: EFO:0000545 {source="EFO:0008560", source="MESH:D007247", source="MONDO:Entailed", source="MONDO:Redundant"} ! infertility is_a: EFO:0009549 {source="MESH:D007247/inferred", source="MONDO:Redundant"} ! female reproductive system disease property_value: exactMatch http://identifiers.org/mesh/D007247 property_value: exactMatch http://identifiers.org/snomedct/6738008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341869 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/N97 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0008561 name: diaphragmatic hernia def: "A congenital or acquired weakness or opening in the diaphragm which allows abdominal contents to protrude into the chest cavity; congenital diaphragmatic hernias are caused when the embryonic diaphragm fails to fuse. [ NCI ]" [] xref: ICD10:K44 xref: MedDRA:10012713 xref: MedDRA:10012723 xref: MeSH:D006548 xref: MP:0003924 xref: NCIt:C34687 is_a: HP:0100790 ! Hernia property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0008562 name: postpartum def: "The period of time immediately after labor and delivery." [] xref: NCIt:C92851 is_a: EFO:0002948 ! postnatal [Term] id: EFO:0008563 name: Illumina HiSeq 4000 def: "The Illumina HiSeq 4000 is a high-throughput sequencing machine developed by Illumina." [] is_a: EFO:0002699 ! high throughput sequencer property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008564 name: Illumina HiSeq 3000 def: "The Illumina HiSeq 3000 is a high-throughput sequencing machine developed by Illumina." [] is_a: EFO:0002699 ! high throughput sequencer property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008565 name: Illumina HiSeq 2500 def: "The Illumina HiSeq 2500 is a sequencing machine developed by Illumina." [] is_a: EFO:0002699 ! high throughput sequencer property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008566 name: Illumina NextSeq 550 def: "The Illumina NextSeq 550 is a benchtop high-throughput sequencing machine developed by Illumina. Its primary applications include exome sequencing, targeted gene sequencing (amplicon, gene panel), whole-transcriptome sequencing and cytogenomic arrays." [] is_a: EFO:0002699 ! high throughput sequencer property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008567 name: Illumina HiSeq X def: "The Illumina HiSeq X is an ultra-high-throughput sequencing machine developed by Illumina. Sets of 5 or 10 HiSeq X instruments make up the Illumina HiSeq X Five and Illumina HiSeq X Ten systems, respectively." [] is_a: EFO:0002699 ! high throughput sequencer property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008568 name: Sleep Disorder def: "A change from the patient's baseline sleeping pattern, in the hours slept and/or an alteration/dysfunction in the stages of sleep." [NCIT:C3376] def: "A change from the patient's baseline sleeping pattern, in the hours slept and/or an alteration/dysfunction in the stages of sleep. [ NCI ]" [] synonym: "Disturbances, Sleep" EXACT [] synonym: "disturbances, sleep" EXACT [NCIT:C3376] synonym: "parasomnia" EXACT [] synonym: "parasomnia" RELATED [NCIT:C3376] synonym: "sleep disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "Sleep Disorders" EXACT [] synonym: "Sleep Disturbance" EXACT [] synonym: "sleep disturbance" EXACT [NCIT:C3376] synonym: "Sleep Disturbances" EXACT [] synonym: "sleep disturbances" EXACT [NCIT:C3376] xref: ICD10:G47 xref: MedDRA:10040984 xref: MONDO:0100081 xref: NCIT:C3376 {source="MONDO:equivalentTo"} xref: NCIt:C3376 is_a: EFO:0000677 ! mental or behavioural disorder property_value: exactMatch NCIT:C3376 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: EFO:0008569 name: Thiamine deficiency def: "Thiamine deficiency is a condition that occurs due to not enough thiamine (vitamin B1)." [] xref: ICD10:E51 xref: Wikipedia:Thiamine_deficiency is_a: EFO:0005878 ! vitamin deficiency property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0008570 name: Vitamin B3 deficiency def: "Vitamin B3 deficiency is a condition that occurs due to not enough niacin (vitamin B3)." [] synonym: "niacin (vitamin B3) deficiency" EXACT [] synonym: "Niacin Deficiency" EXACT [] synonym: "Pellagra" EXACT [] synonym: "vitamin B3 niacin deficiency" EXACT [] xref: ICD10:E52 xref: MedDRA:10080738 is_a: EFO:0005878 ! vitamin deficiency property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0008571 name: viral conjunctivitis def: "Conjunctivitis resulting from viral infection." [NCIT:C34509] def: "Inflammation, often mild, of the conjunctiva caused by a variety of viral agents. Conjunctival involvement may be part of a systemic infection [MeSH]" [] synonym: "Conjunctivitides, viral" RELATED [MESH:D003236] synonym: "viral Conjunctivitides" RELATED [MESH:D003236] synonym: "viral conjunctivitis" EXACT [MESH:D003236, NCIT:C34509] synonym: "viral conjunctivitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Viruses caused conjunctivitis (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Viruses conjunctivitis (disease)" EXACT [] xref: ICD10:B30 xref: MedDRA:10047437 xref: MESH:D003236 {source="MONDO:equivalentTo"} xref: MeSH:D003236 xref: MONDO:0043541 xref: NCIT:C34509 {source="MONDO:equivalentTo"} xref: SCTID:45261009 {source="MONDO:equivalentTo"} xref: UMLS:C0009774 {source="NCIT:C34509", source="MONDO:equivalentTo"} is_a: EFO:0009450 {source="MESH:D003236", source="MONDO:Redundant", source="NCIT:C34509/inferred"} ! conjunctivitis is_a: MONDO:0020950 ! viral eye infection property_value: exactMatch http://identifiers.org/mesh/D003236 property_value: exactMatch http://identifiers.org/snomedct/45261009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009774 property_value: exactMatch NCIT:C34509 property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0008572 name: malnutrition def: "Inadequate nutrition resulting from poor diet, malabsorption, or abnormal nutrient distribution. [ NCI ]" [] synonym: "Lack of food" EXACT [] xref: HP:0004395 xref: ICD10:X53 xref: MedDRA:10061273 xref: MeSH:D044342 xref: NCIt:C3669 is_a: EFO:0001069 ! nutritional disorder property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0008573 name: alcoholic liver disease def: "A disorder caused by damage to the liver parenchyma due to alcohol consumption. It may present with an acute onset or follow a chronic course, leading to cirrhosis." [NCIT:C34783] def: "A disorder caused by damage to the liver parenchyma due to alcohol consumption. It may present with an acute onset or follow a chronic course, leading to cirrhosis. [ NCI ]" [] synonym: "alcoholic liver damage" NARROW [] synonym: "alcoholic liver disease" EXACT [MESH:D008108, NCIT:C34783] synonym: "Alcoholic Liver Diseases" EXACT [] synonym: "alcoholic liver diseases" EXACT [] {comment="preferred label from MONDO"} synonym: "alcoholic liver diseases" EXACT [MESH:D008108] synonym: "liver disease, alcoholic" RELATED [MESH:D008108] xref: ICD10:K70 xref: MedDRA:10001627 xref: MESH:D008108 {source="MONDO:equivalentTo"} xref: MeSH:D008108 xref: MONDO:0043693 xref: NCIT:C34783 {source="MONDO:equivalentTo"} xref: NCIt:C34783 xref: SCTID:41309000 {source="MONDO:equivalentTo"} xref: UMLS:C0023896 is_a: EFO:0001421 {source="EFO:0008573", source="MESH:D008108", source="MONDO:Redundant", source="NCIT:C34783/inferred"} ! liver disease is_a: MONDO:0021699 {source="MESH:D008108"} ! alcohol-induced disorders property_value: exactMatch http://identifiers.org/mesh/D008108 property_value: exactMatch http://identifiers.org/snomedct/41309000 property_value: exactMatch NCIT:C34783 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0008574 name: gangrene def: "Death of tissue, usually in considerable mass and generally associated with loss of vascular (nutritive) supply and followed by bacterial invasion and putrefaction. [ NCI ]" [] xref: HP:0100758 xref: ICD10:R02 xref: MedDRA:10017711 xref: MeSH:D005734 xref: NCIt:C50573 xref: UMLS:C0017086 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0008575 name: obsolete_Osteochondrosis def: "A condition that is characterized by defective bone growth that affects the growth centers of bone. [ NCI ]" [] xref: MeSH:D055034 xref: NCIt:C34879 xref: UMLS:C0029429 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.15.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication of phenotype term. Use http://purl.obolibrary.org/obo/HP_0040188" xsd:string property_value: IAO:0000117 "Zoe May Pendlington" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HP_0040188 [Term] id: EFO:0008576 name: Spinal Osteochondrosis def: "A bone disorder involving ossification centers (EPIPHYSES) of the VERTEBRAL COLUMN. [ MeSH ]" [] xref: ICD10:M42 xref: MeSH:D055035 is_a: EFO:0004260 ! bone disease property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0008577 name: Juvenile Osteochondrosis def: "Defective bone growth that affects the growth centers of bone in children. [ NCI ]" [] xref: MedDRA:10023259 xref: NCIt:C35313 xref: UMLS:C0729346 is_a: EFO:0004260 ! bone disease property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0008578 name: sperm motility measurement def: "Quantification of sperm motility, measured as the percentage of motile sperm in ejaculated sperms ([number of motile sperm in the ejaculate]/[number of sperm in the ejaculate])×100." [] xref: PMID:29453196 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 GO:0000003 ! is_about reproduction relationship: IAO:0000136 UBERON:0000991 ! is_about gonad property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0008579 name: risk-taking behaviour def: "The tendency to take risks. Risk-taking behaviour is a characteristic of several psychiatric disorders such as ADHD and bipolar disorder, as well as problem behaviours such as smoking and drug abuse." [] is_a: GO:0007610 ! behavior property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008580 name: response to taxane def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of taxane, an antineoplastic agent." [] is_a: EFO:0005260 ! response to antimicrotubule agent relationship: OBI:0000293 CHEBI:36064 ! has_input taxane property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0008581 name: salivary gland disease def: "A disease involving the saliva-secreting gland." [https://orcid.org/0000-0002-6601-2165] def: "A non-neoplastic or neoplastic (benign or malignant) disorder involving a salivary gland. [ NCI ]" [] synonym: "disease of saliva-secreting gland" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of saliva-secreting gland" EXACT [] synonym: "disorder of saliva-secreting gland" EXACT [MONDO:patterns/location_top] synonym: "non-neoplastic salivary gland disease" NARROW [DOID:10854, NCIT:C27662] synonym: "saliva-secreting gland disease" EXACT [MONDO:patterns/location] synonym: "saliva-secreting gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "salivary gland disease" EXACT [DOID:10854, NCIT:C26879] synonym: "Salivary Gland Disorder" EXACT [] synonym: "salivary gland disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "salivary gland disorder" EXACT [NCIT:C26879] xref: DOID:10854 {source="MONDO:equivalentTo"} xref: ICD10:K11 xref: ICD9:527.8 {source="DOID:10854", source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:527.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D012466 {source="MONDO:equivalentTo"} xref: MeSH:D012466 xref: MONDO:0001142 xref: NCIT:C26879 {source="MONDO:equivalentTo"} xref: NCIt:C26879 xref: SCTID:10890000 {source="MONDO:equivalentTo"} xref: UMLS:C0036093 {source="MONDO:equivalentTo", source="NCIT:C26879"} is_a: EFO:1001047 {source="DOID:10854", source="EFO:0008581", source="MESH:D012466", source="MONDO:Redundant"} ! mouth disease property_value: exactMatch DOID:10854 property_value: exactMatch http://identifiers.org/mesh/D012466 property_value: exactMatch http://identifiers.org/snomedct/10890000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036093 property_value: exactMatch NCIT:C26879 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0008582 name: thrombin activatable fibrinolysis inhibitor activation peptide measurement def: "Quantification of the amount of the activation peptide of thrombin activatable fibrinolysis inhibitor in a blood sample, typically as a marker of the extent of TAFI activation. Cleavage of the activation peptide from the intact peptide makes the active site accesible to substrates." [] synonym: "carboxypeptidase B2 measurement" EXACT [] synonym: "TAFI activation peptide levels" EXACT [] synonym: "TAFI-AP levels" EXACT [] xref: PMID:29378355 is_a: EFO:0004503 ! hematological measurement is_a: EFO:0004634 ! coagulation factor measurement is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 GO:0007596 ! is_about blood coagulation relationship: IAO:0000136 UBERON:0001969 ! is_about blood plasma property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008583 name: acute myocardial infarction def: "Necrosis of the myocardium, as a result of interruption of the blood supply to the area. It is characterized by a severe and rapid onset of symptoms that may include chest pain, often radiating to the left arm and left side of the neck, dyspnea, sweating, and palpitations." [NCIT:P378] def: "Necrosis of the myocardium, as a result of interruption of the blood supply to the area. It is characterized by a severe and rapid onset of symptoms that may include chest pain, often radiating to the left arm and left side of the neck, dyspnea, sweating, and palpitations. [ NCI ]" [] synonym: "acute myocardial infarction" EXACT [] {comment="preferred label from MONDO"} synonym: "acute myocardial infarction (disease)" EXACT [] synonym: "AMI" EXACT [] synonym: "myocardial infarction (disease), acute" EXACT [MONDO:patterns/acute] xref: DOID:9408 {source="MONDO:equivalentTo"} xref: ICD10:I21 xref: ICD10CM:I21.9 {source="https://doi.org/10.1186/1472-6963-13-468", source="MONDO:equivalentTo"} xref: ICD9:410 {source="DOID:9408"} xref: ICD9:410.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:410.81 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:410.82 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:410.9 {source="DOID:9408"} xref: ICD9:410.90 {source="MONDO:equivalentTo", source="DOID:9408", source="MONDO:i2s"} xref: ICD9:410.91 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:410.92 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10000891 xref: MedDRA:10000892 xref: MedDRA:10000893 xref: MedDRA:10000894 xref: MedDRA:10000895 xref: MedDRA:10000896 xref: MedDRA:10000897 xref: MedDRA:10000898 xref: MedDRA:10000899 xref: MedDRA:10000900 xref: MedDRA:10000901 xref: MedDRA:10000902 xref: MedDRA:10000903 xref: MedDRA:10000904 xref: MedDRA:10000905 xref: MedDRA:10000906 xref: MedDRA:10000907 xref: MedDRA:10000908 xref: MedDRA:10000909 xref: MedDRA:10000910 xref: MedDRA:10000911 xref: MedDRA:10000912 xref: MedDRA:10000913 xref: MedDRA:10000914 xref: MedDRA:10000915 xref: MedDRA:10000916 xref: MedDRA:10000917 xref: MedDRA:10000918 xref: MedDRA:10000919 xref: MedDRA:10000920 xref: MedDRA:10000921 xref: MedDRA:10000922 xref: MedDRA:10000923 xref: MedDRA:10000924 xref: MedDRA:10000925 xref: MedDRA:10000926 xref: MedDRA:10000927 xref: MedDRA:10000928 xref: MedDRA:10000929 xref: MedDRA:10000930 xref: MedDRA:10000931 xref: MedDRA:10066641 xref: MONDO:0004781 xref: NCIT:C35204 {source="MONDO:equivalentTo", source="DOID:9408"} xref: NCIt:C35204 xref: SCTID:57054005 {source="MONDO:equivalentTo", source="DOID:9408"} xref: UMLS:C0155626 {source="MONDO:equivalentTo", source="DOID:9408", source="NCIT:C35204"} is_a: EFO:0000612 {source="DOID:9408", source="EFO:0008583", source="ICD10CM:I21.9", source="MONDO:Redundant", source="NCIT:C35204"} ! myocardial infarction is_a: MONDO:0020683 ! acute disease property_value: exactMatch DOID:9408 property_value: exactMatch http://identifiers.org/snomedct/57054005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155626 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/I21.9 property_value: exactMatch NCIT:C35204 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0008584 name: Subsequent ST elevation (STEMI) and non-ST elevation (NSTEMI) myocardial infarction xref: ICD10:I22 is_a: EFO:0000612 ! myocardial infarction property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0008585 name: ST Elevation Myocardial Infarction def: "A myocardial infarction that produces elevation in the ST segments of the ECG. [ NCI ]" [] synonym: "ST Elevation Myocardial Infarction by ECG Finding" EXACT [] synonym: "ST Elevation Myocardial Infarction by EKG Finding" EXACT [] synonym: "STEMI" EXACT [] xref: NCIt:C101888 is_a: EFO:0008584 ! Subsequent ST elevation (STEMI) and non-ST elevation (NSTEMI) myocardial infarction property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0008586 name: Non-ST Elevation Myocardial Infarction def: "An electrocardiographic finding of a myocardial infarction that does not produce elevations in the ST segment of the EKG. [ NCI ]" [] synonym: "Non-ST Elevation Myocardial Infarction by ECG Finding" EXACT [] synonym: "Non-ST Elevation Myocardial Infarction by EKG Finding" EXACT [] synonym: "NON-STEMI" EXACT [] synonym: "NSTEMI" EXACT [] xref: NCIt:C80383 is_a: EFO:0008584 ! Subsequent ST elevation (STEMI) and non-ST elevation (NSTEMI) myocardial infarction property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0008587 name: gender identity disorder def: "A disorder characterized by a strong and persistent cross-gender identification (such as stating a desire to be the other sex or frequently passing as the other sex) coupled with persistent discomfort with his or her sex (manifested in adults, for example, as a preoccupation with altering primary and secondary sex characteristics through hormonal manipulation or surgery)." [NCIT:C94362] def: "A disorder characterized by a strong and persistent cross-gender identification (such as stating a desire to be the other sex or frequently passing as the other sex) coupled with persistent discomfort with his or her sex (manifested in adults, for example, as a preoccupation with altering primary and secondary sex characteristics through hormonal manipulation or surgery). [ NCI ]" [] comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: - subset: obsoletion_candidate synonym: "gender identity disorder" EXACT [] {comment="preferred label from MONDO"} xref: DOID:1234 {source="MONDO:equivalentTo"} xref: ICD10:F64 xref: ICD9:302.6 {source="DOID:1234"} xref: ICD9:302.8 {source="DOID:1234"} xref: ICD9:302.85 {source="DOID:1234"} xref: ICD9:302.89 {source="DOID:1234"} xref: MedDRA:10061976 xref: MONDO:0001500 xref: NCIT:C94362 {source="MONDO:equivalentTo"} xref: NCIt:C94362 xref: SCTID:87991007 {source="MONDO:equivalentTo"} xref: UMLS:C0017250 is_a: EFO:0000677 ! mental or behavioural disorder is_a: MONDO:0002025 {source="DOID:1234", source="NCIT:C94362/inferred"} ! psychiatric disorder property_value: exactMatch DOID:1234 property_value: exactMatch http://identifiers.org/snomedct/87991007 property_value: exactMatch NCIT:C94362 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Zoe May Pendlington" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6585 xsd:anyURI property_value: IAO:0006012 "2023-11-01" xsd:string [Term] id: EFO:0008588 name: peritonitis def: "Inflammation of the peritoneum due to infection by bacteria or fungi. Causes include liver disease, perforation of the gastrointestinal tract or biliary tract, and peritoneal dialysis. Patients usually present with abdominal pain and tenderness, fever, chills, and nausea and vomiting. It is an emergency medical condition that requires prompt medical attention and treatment." [NCIT:C26849] def: "Inflammation of the peritoneum due to infection by bacteria or fungi. Causes include liver disease, perforation of the gastrointestinal tract or biliary tract, and peritoneal dialysis. Patients usually present with abdominal pain and tenderness, fever, chills, and nausea and vomiting. It is an emergency medical condition that requires prompt medical attention and treatment. [ NCI ]" [] synonym: "acute generalised peritonitis" EXACT OMO:0003005 [] synonym: "acute generalized peritonitis" EXACT [DOID:8283] synonym: "inflammation of peritoneum" EXACT [] synonym: "peritoneum inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "peritonitis" EXACT [] {comment="preferred label from MONDO"} synonym: "primary bacterial peritonitis" EXACT [DOID:8283] synonym: "retractile mesenteritis" EXACT [DOID:8283] xref: DOID:8283 {source="MONDO:equivalentTo"} xref: HP:0002586 xref: ICD10:K65 xref: ICD9:567.8 {source="DOID:8283"} xref: ICD9:567.82 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:567.89 {source="DOID:8283"} xref: MedDRA:10034674 xref: MedDRA:10034685 xref: MESH:D010538 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: MeSH:D010538 xref: MONDO:0004522 xref: NCIT:C26849 {source="MONDO:equivalentTo"} xref: NCIt:C26849 xref: SCTID:86422009 {source="MONDO:equivalentTo"} xref: UMLS:C0031154 is_a: EFO:0000405 {source="DOID:8283", source="EFO:0008588"} ! digestive system disease is_a: EFO:0009541 ! disease of peritoneum is_a: MONDO:0043786 ! serositis property_value: exactMatch DOID:8283 property_value: exactMatch http://identifiers.org/mesh/D010538 property_value: exactMatch http://identifiers.org/snomedct/86422009 property_value: exactMatch NCIT:C26849 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0008589 name: esterified cholesterol measurement def: "Quantification of the amount of esterified cholesterol in a sample." [] synonym: "cholesterol ester measurement" EXACT [] xref: PMID:29084231 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0004732 ! lipoprotein measurement relationship: IAO:0000136 CHEBI:17002 ! is_about cholesteryl ester relationship: IAO:0000136 EFO:0005879 ! is_about cholesterol homeostasis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008590 name: Status Asthmaticus def: "An acute exacerbation of asthma, characterized by inadequate response to initial bronchodilators." [NCIT:P378] def: "An acute exacerbation of asthma, characterized by inadequate response to initial bronchodilators. [ NCI ]" [] synonym: "Asthma with status asthmaticus" EXACT [] synonym: "asthma with status asthmaticus" EXACT [DOID:9362] synonym: "Severe asthma attack" EXACT [] synonym: "severe asthma attack" EXACT [DOID:9362] synonym: "status asthmaticus" EXACT [] {comment="preferred label from MONDO"} xref: DOID:9362 {source="MONDO:equivalentTo"} xref: HP:0012653 xref: ICD10:J46 xref: ICD9:493.91 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9362"} xref: MedDRA:10041961 xref: MESH:D013224 {source="MONDO:equivalentTo", source="DOID:9362"} xref: MONDO:0004766 xref: NCIT:C122577 {source="MONDO:equivalentTo", source="DOID:9362"} xref: NCIt:C122577 xref: SCTID:708090002 {source="MONDO:equivalentTo", source="DOID:9362"} xref: UMLS:C0038218 {source="MONDO:equivalentTo", source="DOID:9362", source="NCIT:C122577"} is_a: MONDO:0004979 {source="DOID:9362", source="EFO:0008590", source="MESH:D013224", source="NCIT:C122577"} ! asthma property_value: exactMatch DOID:9362 property_value: exactMatch http://identifiers.org/mesh/D013224 property_value: exactMatch http://identifiers.org/snomedct/708090002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038218 property_value: exactMatch NCIT:C122577 property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0008591 name: free cholesterol measurement def: "Quantification of the amount of free cholesterol in a sample." [] xref: PMID:29084231 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0004732 ! lipoprotein measurement relationship: IAO:0000136 CHEBI:16113 ! is_about cholesterol relationship: IAO:0000136 EFO:0005879 ! is_about cholesterol homeostasis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008592 name: high density lipoprotein particle size measurement def: "Quantification of the size of HDL particles, typically their diameter." [] synonym: "HDL particle size measurement" EXACT [] xref: PMID:29084231 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0004732 ! lipoprotein measurement relationship: IAO:0000136 CHEBI:47775 ! is_about high-density lipoprotein cholesterol relationship: IAO:0000136 EFO:0005879 ! is_about cholesterol homeostasis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008593 name: low density lipoprotein particle size measurement def: "Quantification of the size of LDL particles, typically their diameter." [] synonym: "LDL particle size measurement" EXACT [] xref: PMID:29084231 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0004732 ! lipoprotein measurement relationship: IAO:0000136 EFO:0004195 ! is_about LDL cholesterol relationship: IAO:0000136 EFO:0005879 ! is_about cholesterol homeostasis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008594 name: very low density lipoprotein particle size measurement def: "Quantification of the size of VLDL particles, typically their diameter." [] synonym: "VLDL particle size measurement" EXACT [] xref: PMID:29084231 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0004732 ! lipoprotein measurement relationship: IAO:0000136 EFO:0005688 ! is_about NHDL cholesterol relationship: IAO:0000136 EFO:0005879 ! is_about cholesterol homeostasis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008595 name: intermediate density lipoprotein measurement def: "Quantification of the amount of intermediate density lipoprotein in a sample." [] synonym: "IDL measurement" EXACT [] xref: PMID:29084231 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0004732 ! lipoprotein measurement relationship: IAO:0000136 EFO:0005688 ! is_about NHDL cholesterol relationship: IAO:0000136 EFO:0005879 ! is_about cholesterol homeostasis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008596 name: chylomicron measurement def: "Quantification of the amount of chylomicrons in a sample. Chylomicrons are lipoprotein particles that consist of triglycerides (85–92%), phospholipids (6–12%), cholesterol (1–3%), and proteins (1–2%)." [] xref: PMID:29084231 xref: Wikipedia:Chylomicron is_a: EFO:0004732 ! lipoprotein measurement relationship: IAO:0000136 EFO:0003836 ! is_about lipoprotein relationship: IAO:0000136 EFO:0005879 ! is_about cholesterol homeostasis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0008597 name: anti-p200 pemphigoid def: "Anti-p200 pemphigoid is a rare subepidermal blistering skin disease. Clinically, anti-p200 pemphigoid is characterized by tense blisters and vesicles, erosions, and urticarial plaques, closely resembling bullous pemphigoid and the inflammatory variant of epidermolysis bullosa acquisita. [ PMID:24767733 ]" [] subset: ordo_disease {source="Orphanet:454710"} synonym: "anti-laminin-γ1 pemphigoid" EXACT [] synonym: "anti-p200 pemphigoid" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0018688 xref: ORDO:Orphanet_454710 xref: Orphanet:454710 {source="MONDO:equivalentTo"} xref: UMLS:CN237754 {source="MONDO:equivalentTo"} is_a: EFO:0008598 {source="EFO:0008597/inferred", source="Orphanet:454710"} ! autoimmune bullous skin disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237754 property_value: exactMatch Orphanet:454710 [Term] id: EFO:0008598 name: autoimmune bullous skin disease def: "An autoimmune disease characterized by blisters on the skin." [MONDO:cjm] def: "Subepidermal autoimmune bullous diseases of the skin and mucosae comprise a large group of chronic diseases, including bullous pemphigoid, pemphigoid gestationis, mucous membrane pemphigoid, linear IgA bullous dermatosis, epidermolysis bullosa acquisita, and anti-p200 pemphigoid. These diseases are characterized by an antibody response toward structural components of the basement membrane zone, resulting in subepidermal blistering. [ PMID:29159697 ]" [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79669"} synonym: "autoimmune bullous skin disease" EXACT [] {comment="preferred label from MONDO"} synonym: "autoimmune diseases of the skin and mucous membrane" EXACT [] synonym: "bullous dermatosis" RELATED [] synonym: "bullous skin disease" BROAD [MONDO:0006529] synonym: "subepidermal autoimmune blistering disease" EXACT [] synonym: "subepidermal autoimmune bullous disease" EXACT [] synonym: "subepidermal autoimmune bullous diseases of the skin and mucosae" EXACT [] xref: DOID:8502 {source="MONDO:equivalentTo", source="EFO:1000673"} xref: EFO:1000673 {source="MONDO:equivalentTo"} xref: ICD9:694.8 {source="DOID:8502", source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:694.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MONDO:0019337 xref: Orphanet:79669 {source="MONDO:equivalentTo"} xref: SCTID:7231009 {source="MONDO:equivalentTo"} xref: UMLS:CN206006 {source="MONDO:equivalentTo"} is_a: EFO:0005140 ! autoimmune disease is_a: EFO:0005809 ! type II hypersensitivity reaction disease is_a: EFO:1000774 ! vesiculobullous skin disease is_a: MONDO:0002406 {source="DOID:8502"} ! dermatitis property_value: exactMatch DOID:8502 property_value: exactMatch http://identifiers.org/snomedct/7231009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206006 property_value: exactMatch Orphanet:79669 [Term] id: EFO:0008601 name: pemphigus foliaceus def: "Pemphigus foliaceous is a rare superficial pemphigus disease characterized by multiple, pruritic, scaly, crusted cutaneous erosions, with flaky circumscribed patches, localized mostly on the face, scalp, trunk and extremities, often presenting an erythematous base. Mucosal involvement is rarely observed." [Orphanet:79481] def: "Pemphigus foliaceus is an autoimmune blistering disease of the skin with characteristic lesions that are scaly, crusted erosions, often on an erythematous base. [Wikipedia]" [] subset: gard_rare {source="GARD:0007354"} subset: ordo_disease {source="Orphanet:79481"} synonym: "pemphigus foliaceus" EXACT [] {comment="preferred label from MONDO"} synonym: "PF" EXACT [] synonym: "PF" RELATED ABBREVIATION [GARD:0007354] xref: DOID:0080850 {source="MONDO:equivalentTo"} xref: HGNC:3050 {source="GARD:0007354"} xref: MedDRA:10057069 {source="Orphanet:79481", source="Orphanet:79481/e"} xref: MONDO:0019324 xref: ORDO:Orphanet_79481 xref: Orphanet:79481 {source="MONDO:equivalentTo"} xref: SCTID:35154004 {source="MONDO:equivalentTo"} xref: UMLS:C0263313 {source="MONDO:equivalentTo", source="Orphanet:79481", source="Orphanet:79481/e"} is_a: EFO:1000749 ! pemphigus is_a: MONDO:0018745 {source="Orphanet:79481"} ! superficial pemphigus property_value: closeMatch http://identifiers.org/meddra/10057069 property_value: exactMatch DOID:0080850 property_value: exactMatch http://identifiers.org/snomedct/35154004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263313 property_value: exactMatch Orphanet:79481 property_value: gwas:trait "true" xsd:boolean property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7354/pemphigus-foliaceus xsd:anyURI {source="GARD:0007354"} [Term] id: EFO:0008602 name: paraneoplastic pemphigus def: "Paraneoplastic pemphigus is an autoimmune disorder stemming from an underlying tumor." [] def: "Pemphigus is a group of chronic autoimmune skin diseases characterized by blisters formation on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterized, of which paraneoplastic pemphigus is extremely rare." [Orphanet:63455] subset: ordo_disease {source="Orphanet:63455"} synonym: "paraneoplastic bullous pemphigoid" EXACT [] synonym: "paraneoplastic pemphigoid" EXACT [] synonym: "paraneoplastic pemphigus" EXACT [] {comment="preferred label from MONDO"} synonym: "PNP" EXACT [] xref: DOID:0080852 {source="MONDO:equivalentTo"} xref: ICD10CM:L10.81 {source="MONDO:equivalentTo"} xref: MedDRA:10057056 {source="Orphanet:63455", source="Orphanet:63455/e"} xref: MONDO:0018974 xref: ORDO:Orphanet_63455 xref: Orphanet:63455 {source="MONDO:equivalentTo"} xref: UMLS:C1112570 {source="Orphanet:63455", source="MONDO:equivalentTo", source="Orphanet:63455/e"} xref: Wikipedia:Paraneoplastic_pemphigus is_a: EFO:0008598 {source="EFO:0008602/inferred", source="Orphanet:63455"} ! autoimmune bullous skin disease is_a: EFO:1000749 ! pemphigus is_a: MONDO:0021073 {source="MONDO:cjm"} ! paraneoplastic syndrome property_value: closeMatch http://identifiers.org/meddra/10057056 property_value: exactMatch DOID:0080852 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1112570 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L10.81 property_value: exactMatch Orphanet:63455 [Term] id: EFO:0008603 name: pemphigus erythematosus def: "Pemphigus erythematosus (also known as \"Senear–Usher syndrome\") is simply a localized form of pemphigus foliaceus with features of lupus erythematosus. [ Wikipedia ]" [] def: "Pemphigus erythematosus is a rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed." [Orphanet:79480] subset: ordo_disease {source="Orphanet:79480"} synonym: "pemphigus erythematosus" EXACT [] {comment="preferred label from MONDO"} synonym: "seborrheic pemphigoid" EXACT [] synonym: "seborrheic pemphigus" EXACT [Orphanet:79480] synonym: "Senear-Usher syndrome" EXACT [Orphanet:79480] xref: ICD10CM:L10.4 {source="MONDO:equivalentTo", source="Orphanet:79480", source="Orphanet:79480/ntbt"} xref: MedDRA:10058917 {source="Orphanet:79480", source="Orphanet:79480/e"} xref: MONDO:0019323 xref: ORDO:Orphanet_79480 xref: Orphanet:79480 {source="MONDO:equivalentTo"} xref: SCTID:36739006 {source="MONDO:equivalentTo"} xref: UMLS:C0263312 {source="MONDO:equivalentTo", source="Orphanet:79480", source="Orphanet:79480/e"} is_a: EFO:1000749 ! pemphigus is_a: MONDO:0018745 {source="Orphanet:79480"} ! superficial pemphigus property_value: closeMatch http://identifiers.org/meddra/10058917 property_value: exactMatch http://identifiers.org/snomedct/36739006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263312 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L10.4 property_value: exactMatch Orphanet:79480 [Term] id: EFO:0008604 name: IgA pemphigus def: "Immunoglobulin A (IgA) pemphigus is a group of newly characterized immune-mediated intraepidermal blistering skin diseases. Unlike typical immunoglobulin G (IgG)–mediated pemphigus, IgA pemphigus is characterized by tissue-bound and circulating IgA autoantibodies that target the desmosomal proteins of the epidermis [ https://emedicine.medscape.com/article/1063776-overview ]" [] synonym: "immunoglobulin A (IgA) pemphigus" EXACT [] synonym: "immunoglobulin A (IgA)-mediated pemphigus" EXACT [] synonym: "immunoglobulin A mediated pemphigus" EXACT [] synonym: "immunoglobulin A pemphigus" EXACT [] synonym: "subcorneal pustular dermatosis and monoclonal IgA" EXACT [] is_a: EFO:1000749 ! pemphigus property_value: definition:citation https://emedicine.medscape.com/article/1063776-overview xsd:string [Term] id: EFO:0008605 name: IgG/IgA pemphigus def: "IgG/IgA pemphigus is defined by the presence of IgG and IgA cell surface deposits upon direct immunofluorescence (DIF) and/or circulating IgG and IgA autoantibodies upon indirect immunofluorescence. Previous reports of patients with IgG/IgA pemphigus are sparse [ PMID:26566588 ]" [] is_a: EFO:1000749 ! pemphigus [Term] id: EFO:0008606 name: pemphigus herpetiformis def: "Pemphigus herpetiformis is a rare autoimmune bullous skin disorder that is considered a clinical variant of pemphigus. Classically, it combines the clinical features of dermatitis herpetiformis with the immunopathologic features of pemphigus." [] xref: MedDRA:10065983 is_a: EFO:1000749 ! pemphigus property_value: definition:citation https://emedicine.medscape.com/article/1064550-overview xsd:string [Term] id: EFO:0008607 name: drug-induced pemphigus def: "Pemphigus is an autoimmune bullous disease characterized by blisters and erosions of the skin and mucous membranes. Several variants of the disease exist, including pemphigus vulgaris, pemphigus foliaceous, and drug-induced pemphigus. Patients with drug-induced pemphigus have autoantibodies that are either circulating or tissue bound." [] synonym: "amoxicillin/clavulanic acid-induced pemphigus vulgaris" EXACT [] synonym: "biologic therapy-induced pemphigus" EXACT [] synonym: "bucillamine-induced pemphigus foliaceus" EXACT [] synonym: "drug-induced pemphigoid" EXACT [] synonym: "drug-related pemphigus" EXACT [] synonym: "drug-triggered pemphigus" EXACT [] synonym: "pemphigus herpetiformis-type drug reaction" EXACT [] is_a: EFO:1000749 ! pemphigus property_value: definition:citation https://emedicine.medscape.com/article/1063684-overview xsd:string [Term] id: EFO:0008608 name: radiotherapy-induced pemphigus def: "Pemphigus induced by radiotherapy." [] synonym: "paraneoplastic pemphigus triggered by radiotherapy" EXACT [] synonym: "pemphigus induced by radiotherapy" EXACT [] synonym: "pemphigus vulgaris induced by radiotherapy" EXACT [] synonym: "radiation-induced pemphigus" EXACT [] synonym: "radiation-induced pemphigus vulgaris" EXACT [] synonym: "radiotherapy-induced pemphigus" EXACT [] synonym: "radiotherapy-induced pemphigus vulgaris" EXACT [] synonym: "X-ray-induced pemphigus" EXACT [] is_a: EFO:1000749 ! pemphigus [Term] id: EFO:0008610 name: ocular cicatricial pemphigoid def: "Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders ) that affects the eyes. In the early stages, people with OCPgenerally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. If left untreated, OCP can progress to severe conjunctiva scarring and vision loss. Involvement of other mucosal sites and the skin may also occur in OCP. The exact underlying cause is currently unknown. The treatment of OCP aims to slow disease progression and prevent complications. This usually involves long-term use of medications called immunomodulators which help regulate or normalize the immune system.[9044][9045] [ https://rarediseases.info.nih.gov/diseases/8759/ocular-cicatricial-pemphigoid ]" [] def: "Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. In the early stages, people with OCPgenerally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. If left untreated, OCP can progress to severe conjunctiva scarring and vision loss. Involvement of other mucosal sites and the skin may also occur in OCP. The exact underlying cause is currently unknown. The treatment of OCP aims to slow disease progression and prevent complications. This usually involves long-term use of medications called immunomodulators which help regulate or normalize the immune system." [https://rarediseases.info.nih.gov/diseases/8759/ocular-cicatricial-pemphigoid] subset: gard_rare {source="GARD:0008759"} synonym: "cicatricial pemphigoid, ocular" RELATED [GARD:0008759] synonym: "OCP" EXACT [] synonym: "OCP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:164185] synonym: "ocular cicatricial pemphigoid" EXACT [] {comment="preferred label from MONDO"} synonym: "ocular cicatricial pemphigoid" EXACT [MONDO:Lexical, OMIM:164185] synonym: "pemphigoid, ocular cicatricial" RELATED [GARD:0008759] xref: MONDO:0008109 xref: NCIT:C84939 {source="MONDO:equivalentTo"} xref: NCIt:C84939 xref: OMIM:164185 {source="MONDO:equivalentTo"} xref: SCTID:314757003 {source="MONDO:equivalentTo"} xref: UMLS:C1282359 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:164185", source="NCIT:C84939"} is_a: EFO:1000680 {source="EFO:0008610", source="MONDO:cjm", source="NCIT:C84939"} ! mucous membrane pemphigoid property_value: exactMatch http://identifiers.org/snomedct/314757003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1282359 property_value: exactMatch https://omim.org/entry/164185 property_value: exactMatch NCIT:C84939 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8759/ocular-cicatricial-pemphigoid xsd:anyURI {source="GARD:0008759"} [Term] id: EFO:0008611 name: localised cicatricial pemphigoid def: "Localized cicatricial pemphigoid (also known as \"Brunsting–Perry cicatricial pemphigoid\") refers to a localised variant of cutaneous cicatricial pemphigoid involving the head and the neck without mucosal involvement." [] synonym: "Brunsting Perry Syndrome" EXACT [] synonym: "Brunsting-Perry cicatricial pemphigoid" EXACT [] synonym: "Brunsting-Perry syndrome" EXACT [] synonym: "cicatricial pemphigoid of the Brunsting-Perry Type" EXACT [] synonym: "localised cicatricial pemphigoid" EXACT [] synonym: "localized cicatricial pemphigoid" EXACT [] xref: Wikipedia:Cicatricial_pemphigoid is_a: EFO:1000680 ! mucous membrane pemphigoid [Term] id: EFO:0008612 name: vegetating cicatricial pemphigoid def: "Cicatricial pemphigoid that may be not fully manifested." [] is_a: EFO:1000680 ! mucous membrane pemphigoid [Term] id: EFO:0008613 name: pemphigus vegetans def: "Pemphigus vegetans (P Veg) is a rare clinical form of pemphigus." [] subset: ordo_clinical_subtype {source="Orphanet:79479"} synonym: "pemphigus vegetans" EXACT [] {comment="preferred label from MONDO"} xref: ICD10CM:L10.1 {source="Orphanet:79479", source="MONDO:equivalentTo", source="Orphanet:79479/e"} xref: MedDRA:10057053 {source="Orphanet:79479", source="Orphanet:79479/e"} xref: MONDO:0019322 xref: Orphanet:79479 {source="MONDO:equivalentTo"} xref: SCTID:81285006 {source="MONDO:equivalentTo"} xref: UMLS:C0263316 {source="Orphanet:79479", source="MONDO:equivalentTo", source="Orphanet:79479/e"} xref: UMLS:CN205981 {source="MONDO:equivalentTo"} is_a: EFO:0004719 {source="EFO:0008613", source="Orphanet:79479"} ! pemphigus vulgaris property_value: closeMatch http://identifiers.org/meddra/10057053 property_value: exactMatch http://identifiers.org/snomedct/81285006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263316 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205981 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L10.1 property_value: exactMatch Orphanet:79479 [Term] id: EFO:0008614 name: Iodine Deficiency Hypothyroidism def: "Hypothyroidism due to insufficient intake of iodine. [ NCI ]" [] synonym: "Hypothyroidism due to Iodine Deficiency" EXACT [] synonym: "Subclinical iodine deficiency hypothyroidism" EXACT [] xref: ICD10:E02 xref: NCIt:C132053 xref: UMLS:CL520437 is_a: EFO:0004705 ! hypothyroidism property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0008615 name: Cystic Kidney Disease def: "A congenital or acquired kidney disorder characterized by the presence of renal cysts." [NCIT:C34750] def: "A congenital or acquired kidney disorder characterized by the presence of renal cysts. [ NCI ]" [] synonym: "cystic kidney disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Cystic Kidney Diseases" EXACT [] synonym: "cystic renal disease" EXACT [PMID:15271365] synonym: "Cystic Renal Diseases" EXACT [] synonym: "kidney cyst" EXACT [DOID:2975, MTH:646] synonym: "Kidney, Cystic" EXACT [] synonym: "renal cyst" EXACT [DOID:2975, NCIT:C3970] xref: DOID:2975 {source="MONDO:equivalentTo"} xref: ICD10:Q61 xref: ICD10CM:Q61 {source="MONDO:equivalentTo"} xref: MedDRA:10011771 xref: MedDRA:10011772 xref: MESH:D052177 {source="MONDO:equivalentTo", source="DOID:2975"} xref: MeSH:D052177 xref: MONDO:0002473 xref: NCIT:C34750 {source="MONDO:equivalentTo"} xref: NCIt:C34750 xref: SCTID:722223000 {source="MONDO:equivalentTo"} xref: UMLS:C0022679 {source="MONDO:equivalentTo", source="DOID:2975"} xref: UMLS:C1691228 is_a: EFO:0003086 {source="DOID:2975", source="MESH:D052177", source="MONDO:Redundant", source="NCIT:C34750/inferred"} ! kidney disease property_value: exactMatch DOID:2975 property_value: exactMatch http://identifiers.org/mesh/D052177 property_value: exactMatch http://identifiers.org/snomedct/722223000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022679 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q61 property_value: exactMatch NCIT:C34750 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0008616 name: Complex Cyst of Kidney def: "A heterogeneous and/or septated cyst located in the kidney. [ NICHD NCI ]" [] xref: NCIt:C123170 xref: UMLS:C0748283 is_a: EFO:0008615 ! Cystic Kidney Disease property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0008617 name: Medullary Cystic Kidney Disease Type I def: "An inherited form of cystic kidney disease that leads to fibrosis and impaired renal function as a result of defects in the MUC1 gene, which encodes mucin 1. [ NICHD NCI ]" [] synonym: "Autosomal Dominant Interstitial Kidney Disease" EXACT [] xref: NCIt:C123171 xref: UMLS:C4054549 is_a: EFO:0008615 ! Cystic Kidney Disease property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0008618 name: Medullary Cystic Kidney Disease Type II def: "An inherited form of cystic kidney disease leading to fibrosis and impaired renal function that is caused by mutations in the UMOD gene, which encodes uromodulin/Tamm-Horsfall mucoprotein. [ NICHD NCI ]" [] xref: NCIt:C123172 xref: UMLS:C4054550 is_a: EFO:0008615 ! Cystic Kidney Disease property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0008619 name: Simple Cyst of Kidney def: "A homogenous cyst located in the kidney. [ NCI NICHD ]" [] xref: NCIt:C123173 xref: UMLS:C0268800 is_a: EFO:0008615 ! Cystic Kidney Disease property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0008620 name: Polycystic Kidney Disease def: "A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis." [NCIT:C75464] def: "A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis. [ NCI ]" [] synonym: "Fibrocystic Renal Disease" EXACT [] synonym: "fibrocystic renal disease" EXACT [NCIT:C75464] synonym: "PKD - Polycystic Kidney Disease" EXACT [] synonym: "PKD - polycystic kidney disease" EXACT [NCIT:C75464] synonym: "polycystic kidney disease" EXACT [] {comment="preferred label from MONDO"} synonym: "polycystic kidney disease" EXACT [NCIT:C75464, OMIMPS:173900] xref: DOID:0080322 {source="MONDO:equivalentTo"} xref: MESH:D007690 {source="MONDO:equivalentTo"} xref: MONDO:0020642 xref: NCIT:C75464 {source="MONDO:equivalentTo"} xref: NCIt:C75464 xref: OMIMPS:173900 {source="DOID:898", source="MONDO:equivalentTo"} xref: SCTID:82525005 {source="MONDO:equivalentTo"} xref: UMLS:C0022680 is_a: MONDO:0019741 ! familial cystic renal disease property_value: exactMatch DOID:0080322 property_value: exactMatch http://identifiers.org/mesh/D007690 property_value: exactMatch http://identifiers.org/snomedct/82525005 property_value: exactMatch https://omim.org/phenotypicSeries/PS173900 property_value: exactMatch NCIT:C75464 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3532 xsd:anyURI [Term] id: EFO:0008621 name: Microcystic Renal Disease def: "A congenital renal disorder characterized by the presence of small cysts in the renal cortex and/or renal medulla. [ NCI ]" [] xref: NCIt:C103918 xref: UMLS:C0266312 is_a: EFO:0008620 ! Polycystic Kidney Disease property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0008622 name: female genital tract polyp def: "A soft and painless polypoid mass that arises from the female genital tract." [] synonym: "polyp in the female reproductive tract" EXACT [] synonym: "Polyp of female genital tract" EXACT [] synonym: "polyps in female reproductive organs" EXACT [] xref: ICD10:N84 is_a: EFO:0000662 ! polyp is_a: EFO:0009549 ! female reproductive system disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0008623 name: dysthymic disorder def: "A chronic mood disorder in which the symptoms are similar to, though milder than, those diagnosed in depression." [NCIT:P378] def: "A chronic mood disorder in which the symptoms are similar to, though milder than, those diagnosed in depression. [ NCI ]" [] synonym: "dysthymia" EXACT [DOID:12139] synonym: "dysthymic disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "Persistent depressive disorder" EXACT [] synonym: "persistent mood" EXACT [] xref: DOID:12139 {source="MONDO:equivalentTo"} xref: ICD10:F34 xref: ICD10CM:F34.1 {source="DOID:12139", source="MONDO:equivalentTo"} xref: ICD9:300.4 {source="DOID:12139", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10013982 xref: MESH:D019263 {source="DOID:12139", source="MONDO:equivalentTo"} xref: MeSH:D019263 xref: MONDO:0001442 xref: NCIT:C34562 {source="DOID:12139", source="MONDO:equivalentTo"} xref: NCIt:C34562 xref: SCTID:78667006 {source="DOID:12139", source="MONDO:equivalentTo"} xref: UMLS:C0013415 is_a: EFO:0004247 {source="DOID:12139", source="EFO:0008623", source="ICD10CM:F34.1/inferred", source="MESH:D019263/inferred", source="NCIT:C34562"} ! mood disorder property_value: exactMatch DOID:12139 property_value: exactMatch http://identifiers.org/mesh/D019263 property_value: exactMatch http://identifiers.org/snomedct/78667006 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/F34.1 property_value: exactMatch NCIT:C34562 property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0008624 name: vitreous body disease def: "Any disease affecting the vitreous body of the eye." [NCIT:C45256] def: "Any disease affecting the vitreous body of the eye. [ NCI ]" [] synonym: "disease of vitreous body" EXACT [MONDO:design_pattern, MONDO:patterns/location_top] synonym: "disease or disorder of vitreous body" EXACT [] synonym: "disorder of vitreous body" EXACT [MONDO:patterns/location_top] synonym: "vitreous body disease" EXACT [MONDO:design_pattern] synonym: "vitreous body disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "vitreous body disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "vitreous body disorder" EXACT [NCIT:C45256] xref: ICD10:H43 xref: ICD10:H45 xref: ICD9:379.29 xref: MONDO:0044137 xref: NCIT:C45256 {source="MONDO:equivalentTo"} xref: NCIt:C45256 xref: SCTID:76682005 {source="MONDO:equivalentTo"} xref: UMLS:C0155365 {source="MONDO:equivalentTo", source="NCIT:C45256"} is_a: EFO:0003966 {source="EFO:0008624", source="MONDO:Redundant", source="NCIT:C45256"} ! eye disease property_value: exactMatch http://identifiers.org/snomedct/76682005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155365 property_value: exactMatch NCIT:C45256 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0008625 name: vitreous prolapse def: "Prolapse of the vitreous material through the defect in the zonule around the lens and into the anterior chamber." [] synonym: "intraocular content prolapse" EXACT [] synonym: "prolapse of the intraocular contents" EXACT [] synonym: "prolapse of vitreous body" EXACT [] xref: ICD10:H43.0 xref: MedDRA:10047661 is_a: EFO:0008624 ! vitreous body disease property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0008626 name: vitreous hemorrhage def: "Blood extravasation in the vitreous humor. Causes include neovascularization, retinal tear, retinal detachment, and rupture of a blood vessel aneurysm in the eye. [ NCI ]" [] synonym: "Blood In Vitreous" EXACT [] synonym: "Blood In Vitreous Fluid," EXACT [] synonym: "vitreous body hemorrhage" EXACT [] synonym: "Vitreous Fluid, Blood In" EXACT [] synonym: "Vitreous Hemorrhage Fluid" EXACT [] xref: HP:0007902 xref: ICD10:H43.1 xref: MedDRA:10047656 xref: MeSH:D014823 xref: MP:0006202 xref: NCIt:C50469 is_a: EFO:0008624 ! vitreous body disease is_a: EFO:0008627 ! eye hemorrhage property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0008627 name: eye hemorrhage def: "Bleeding from vessels of the various tissues of the eye. [ DDD:akelly ]" [] synonym: "Bleeding from the eye" EXACT [] synonym: "Hemorrhage of the eye" EXACT [] xref: HP:0011885 xref: MedDRA:10015928 xref: MeSH:D005130 xref: MP:0006203 xref: SNOMEDCT:417244000 xref: SNOMEDCT:93478000 xref: UMLS:C0015402 is_a: EFO:0003966 ! eye disease property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0008628 name: Hyalitis def: "Inflammatory intraocular reaction with clouding and cells in vitreous; often accompanies inflammation of ciliary body, iris, choroid, or retina. [ NCI ]" [] synonym: "Hyaloiditis" EXACT [] synonym: "Vitreitis" EXACT [] synonym: "Vitritis" EXACT [] xref: MedDRA:10054835 xref: NCIt:C50587 xref: UMLS:C0235812 is_a: EFO:0008624 ! vitreous body disease property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0008630 name: PacBio Sequel system def: "The PacBio Sequel system is a high-throughput sequencing machine developed by PacBio. Its primary applications are rapid and cost-effective de novo genome assembly and structural variation analysis." [] is_a: EFO:0002699 ! high throughput sequencer property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008631 name: PacBio RS II def: "The PacBio RS II is a high-throughput sequencing machine developed by PacBio. Its primary applications are whole genome sequencing of smaller organisms and targeted sequencing of DNA and RNA." [] is_a: EFO:0002699 ! high throughput sequencer property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008632 name: ONT MinION def: "The ONT MinION is a pocket-sized sequencing machine developed by Oxford Nanopore Technologies." [] is_a: EFO:0002699 ! high throughput sequencer property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008633 name: ONT GridION X5 def: "The ONT GridION X5 is a sequencing machine developed by Oxford Nanopore Technologies." [] is_a: EFO:0002699 ! high throughput sequencer property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008634 name: ONT PromethION def: "The ONT PromethION is a high-throughput, high-sample number benchtop sequencing machine developed by Oxford Nanopore Technologies." [https://nanoporetech.com/products/promethion] is_a: EFO:0002699 ! high throughput sequencer property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008635 name: Illumina iSeq 100 def: "The Illumina iSeq 100 is a benchtop sequencing machine developed by Illumina. Its primary applications include small whole-genome sequencing, targeted sequencing of a set of genes or gene regions, gene expression analysis and 16S metagenomic sequencing." [] is_a: EFO:0002699 ! high throughput sequencer property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008636 name: Illumina MiniSeq def: "The Illumina MiniSeq is a benchtop sequencing machine developed by Illumina." [] is_a: EFO:0002699 ! high throughput sequencer property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008637 name: Illumina NovaSeq 6000 def: "The Illumina NovaSeq 6000 is a high-throughput sequencing machine developed by Illumina." [] is_a: EFO:0002699 ! high throughput sequencer property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008638 name: 2b-RAD def: "Genotyping technique for population structure inferences" [] xref: PMID:22609625 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008639 name: 2P-Seq def: "Poly(A)-primed sequencing (2P-seq) to quantify usage of known poly(A) sites" [] xref: PMID:24072873 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008640 name: 3'T-fill def: "Strand-specific 3’-end RNA-seq" [] xref: PMID:23295673 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008641 name: 3’-end-seq def: "3’-end regions of transcripts (3’-end-seq)" [] xref: PMID:22467213 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008642 name: 3’NT method def: "3’ End of nascent transcripts (3’NT)" [] xref: PMID:24606920 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008643 name: 3′-Seq def: "3’-Seq to detect 3’ UTR isoforms" [] xref: PMID:24145798 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008644 name: 3P-Seq def: "Poly(A)-position profiling by sequencing (3P-Seq)" [] xref: PMID:21085120 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008645 name: 3-Seq def: "3’-end sequencing for expression quantification (3SEQ) from FFPE samples" [] synonym: "3Seq" EXACT [] xref: PMID:20098735 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008646 name: 4sUDRB-seq def: "Gene-specific differences in elongation rates in vivo (4sUDRB-seq)" [] xref: PMID:24887486 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008647 name: 5’-GRO-seq def: "Detect nascent RNA with a 5’ 7-methylguanylated cap (5’-GRO-seq)" [] xref: PMID:23728303 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008648 name: 5PSeq def: "Profiles the genome-wide abundance of mRNA degradation intermediates by their 5′-phosphorylated ends (5PSeq)" [] xref: PMID:26820793 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008649 name: Aba-seq def: "AbaSI coupled with sequencing (Aba-seq)" [] xref: PMID:23352666 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008650 name: Advanved Chia-PET def: "Advanced or long read ChIA-PET uses Tn5 transposases" [] xref: PMID:26686651 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008651 name: AGO-CLIP def: "Map miRNA binding to AGO sites in C. elegans" [] xref: PMID:24857550 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008652 name: AHT-ChIP-Seq def: "Automated high-throughput ChIP-seq (AHT-ChIP-seq)" [] xref: PMID:24200198 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008653 name: ARS-Seq def: "Autonomously replicating sequence assay (ARS-seq)" [] xref: PMID:23241746 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008654 name: Bar-Seq def: "Multiplexed barcode sequencing (Bar-seq)" [] xref: PMID:19622793 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008655 name: Barcode-Seq def: "Characterize phenotypes of hundreds of different AAV strains" [] xref: PMID:24435020 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008656 name: BisChIP-Seq def: "Bisulfite-treated chromatin immuno-precipitated DNA (BisChIP-seq), to correlate protein modifications with DNA methylation" [] xref: PMID:22466171 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008657 name: BLESS def: "Breaks labeling, enrichment on streptavidin and sequencing (BLESS)" [] xref: PMID:23503052 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008658 name: BrdU-CLIP def: "iCLIP with BrdU affinity purification (BrdU-CLIP)" [] xref: PMID:24613350 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008659 name: Break-seq def: "Double-stranded break labeling to map chromosome breaks (Break-seq)" [] xref: PMID:25609572 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008660 name: BRIC-seq def: "5’-Bromo-uridine immunoprecipitation chase (BRIC-Seq)" [] xref: PMID:22369889 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008661 name: Bru-Seq def: "Bromouridine labeling and sequencing (Bru-seq) is a method for probing RNA synthesis by pulling down bromouridine residues in nascent transcripts followed by sequencing." [] synonym: "Bromouride labeling and sequencing" EXACT [] xref: PMID:23345452 is_a: EFO:0001457 ! RNA assay is_a: EFO:0005032 ! IP-seq property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008662 name: BruChase-Seq def: "Bromouridine pulse-chase and sequencing (BruChase-Seq)" [] xref: PMID:23345452 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008663 name: BruDRB-seq def: "BruDRB-seq— to reveal gene-specific differences in elongation rates" [] xref: PMID:24714810 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008664 name: BruUV-Seq def: "an approach that complements the Bru-seq technique by enhancing nascent RNA signal around promoters and enhancers genome-wide in intact cells" [] xref: PMID:26656874 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008665 name: BS-Seq def: "Bisulfite conversion of genomic DNA (bs-Seq)" [] xref: PMID:19829295 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008666 name: BSAS def: "Bisulfite amplicon sequencing (BSAS)" [] xref: PMID:24279302 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008667 name: BSPP def: "Bisulfite sequencing with padlock probes (BSPP)" [] xref: PMID:19330000 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008668 name: CAB-Seq def: "Chemical modification-assisted bisulfite sequencing (CAB-Seq) for 5caC detection" [] xref: PMID:23758547 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008669 name: CAGEscan def: "CAGEscan: a mate-pair adaptation of nanoCAGE that captures the transcript 5′ ends linked to a downstream region" [] xref: PMID:20543846 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008670 name: caMAB-seq def: "5caC methylase-assisted bisulfite sequencing (caMAB-seq)" [] xref: PMID:27172168 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008671 name: CAP-seq def: "CXXC affinity purification plus deep sequencing (CAP-seq)" [] xref: PMID:20885785 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008672 name: Capp-Seq def: "Cancer personalized profiling by deep sequencing (CAPP-Seq)" [] xref: PMID:24705333 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008673 name: CapSeq def: "5’ anchored profiling of Pol II transcripts (CapSeq). Identifies pre-mRNAs, transspliced mRNAs, miRNAs, and noncoding RNAs" [] synonym: "Cap-Seq" EXACT [] xref: PMID:23260138 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008674 name: Capture-HiC def: "Capture Hi-C is a type of Hi-C assay in which a selection step is performed on ligated fragments in order to select for ligation products containing specific regions, often used to enrich for promoter regions." [] xref: PMID:24413732 is_a: EFO:0007693 ! Hi-C property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008675 name: CaptureSeq def: "RNA capture sequencing (CaptureSeq)" [] xref: PMID:24705597 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008676 name: CAST-ChIP def: "Chromatin affinity purification from specific cell types by chromatin immunoprecipitation (CAST-ChIP)" [] xref: PMID:24095734 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008677 name: CATCH-IT def: "Covalent attachment of tags to capture histones (CATCH‑IT)" [] xref: PMID:20508129 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008678 name: CATCH-seq def: "Capture of Associated Targets on CHromatin (CATCH)" [] xref: PMID:27634217 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008679 name: CEL-seq def: "Cell expression by linear amplification and sequencing (CEL-Seq)." [] xref: PMID:22939981 is_a: EFO:0001457 ! RNA assay is_a: EFO:0010183 ! single cell library construction property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008680 name: ChAP-seq def: "Chromatin affinity precipitation (ChAP)-seq" [] xref: PMID:26789284 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008681 name: CHART def: "Capture hybridization analysis of RNA targets (CHART)" [] xref: PMID:22143764 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008682 name: ChEC-seq def: "Chromatin endogenous cleavage" [] xref: PMID:26490019 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008683 name: Chem-Seq def: "Chem-seq: to identify the sites bound by small chemical molecules" [] xref: PMID:24336317 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008684 name: Chia-PET def: "ChIA-PET (chromatin interaction analysis by paired-end tag sequencing) is a type of chromosome conformation capture assay that uses chromatin immunoprecipitation to enrich for protein-specific chromatin complexes after digestion, followed by nuclear proximity ligation and high-throughput paired-end-tag sequencing." [] synonym: "chromatin interaction analysis by paired-end tag sequencing" EXACT [] xref: PMID:20181287 is_a: EFO:0005032 ! IP-seq is_a: EFO:0009967 ! ligation-mediated chromosome conformation capture assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008685 name: ChIP-BS-seq def: "Bisulfite-treated chromatin immunoprecipitated DNA (ChIP-BS-seq), to correlate protein modifications with DNA methylation" [] xref: PMID:22466170 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008686 name: ChIPmentation def: "Fast, robust, low-input ChIP-seq for histones and transcription factors" [] xref: PMID:26280331 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008687 name: ChIRP def: "Chromatin Isolation by RNA Purification (ChIRP)" [] xref: PMID:21963238 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008688 name: CIP-TAP def: "CIP-TAP for identifying capped small RNA (csRNA) species" [] xref: PMID:23260138 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008689 name: Circle-Seq def: "Extrachromosomal circular DNA sequencing (Circle-Seq)" [] xref: PMID:26038577 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008690 name: CIRS-seq def: "Chemical inference of RNA structures (CIRS-seq)" [] xref: PMID:25323333 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008691 name: CirSeq def: "Identify low abundance RNA viruses with circular sequencing (CirSeq)" [] xref: PMID:24284629 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008692 name: CLaP def: "Cell labeling via photobleaching (CLaP)" [] xref: PMID:27198043 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008693 name: CLASH def: "Crosslinking, ligation, and sequencing of hybrids (CLASH)" [] xref: PMID:21610164 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008694 name: ClickSeq def: "Generate RNAseq libraries from stochastically terminated 3’-azido-blocked cDNA fragments (ClickSeq)" [] xref: PMID:26116762 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008695 name: CNV-Seq def: "Copy number variation sequencing (CNV-Seq)" [] xref: PMID:19267900 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008696 name: COPRO-seq def: "Community profiling by sequencing" [] xref: PMID:26430127 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008697 name: cP-RNA-Seq def: "2',3'-cyclic phosphate (cP) RNA sequencing (cP-RNA-Seq)" [] xref: PMID:26124144 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008698 name: CPT-seq def: "Contiguity-preserving transposition sequencing (CPT-seq)" [] xref: PMID:25326703 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008699 name: CRE-Seq def: "Cis-regulatory elements (CREs) sequencing" [] xref: PMID:23129659 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008700 name: CREST-seq def: "Cis-regulatory element scan by tiling-deletion and sequencing (CREST-seq)" [] xref: PMID:28417999 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008701 name: CROP-Seq def: "CRISPR droplet sequencing (CROP-seq)" [] xref: PMID:28099430 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008702 name: CrY2H-seq def: "Massively multiplexed assay for deep-coverage interactome mapping (CrY2H-seq)" [] xref: PMID:28650476 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008703 name: CytoSeq def: "Gene expression cytometry (CytoSeq)" [] xref: PMID:25657253 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008704 name: DamID def: "DamID (DNA adenine methyltransferase interaction detection) is an assay for identifying DNA binding sites for a protein by fusing it to Dam methylase, and expressing it so that bound DNA gets methylated. The methylated DNA can then be isolated and analyzed." [] synonym: "DNA adenine methyltransferase interaction detection" EXACT [] xref: PMID:17545983 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008705 name: DAP-seq def: "DNA affinity purification sequencing" [] xref: PMID:28726847 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008706 name: DArTSeq def: "SNP genotyping-by-sequencing with double-enzymatic digestion of DArT markers (DArTSeq)" [] xref: PMID:28533412 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008707 name: ddRADseq def: "Double digest restriction-site associated DNA marker generation (ddRADseq)" [] xref: PMID:22675423 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008708 name: DeepCAGE def: "High throughput Cap-analysis gene expression (CAGE)" [] xref: PMID:19074369 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008709 name: Digenome-seq def: "In vitro Cas9-digested whole-genome sequencing to profile genome-wide Cas9 off-target effects (Digenome-seq)" [] xref: PMID:25664545 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008710 name: Digital RNA def: "Digital RNA: unique molecular barcodes are added after cDNA synthesis" [] synonym: "Digital RNA Sequencing" EXACT [] xref: PMID:22232676 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008711 name: DIP-seq def: "DNA immunoprecipitation followed by high throughput sequencing (DIP-seq))" [] xref: PMID:23602152 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008712 name: DLAF def: "Directly ligate sequencing adaptors to the first-strand cDNA (DLAF)" [] xref: PMID:25607527 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008713 name: DMS-MapSeq def: "Dimethyl Sulfate Mutational Profiling with Sequencing" [] xref: PMID:27819661 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008714 name: DMS-Seq def: "DMS treatment coupled to a massively parallel sequencing (DMS-seq)" [] xref: PMID:24336214 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008715 name: Dnase I SIM def: "Dnase I simplified in-nucleus method (Dnase I SIM) for plants" [] xref: PMID:26339280 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008716 name: obsolete_DNase-Seq property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.14.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate of http://www.ebi.ac.uk/efo/EFO_0003752." xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0003752 [Term] id: EFO:0008717 name: obsolete_DNaseI-Seq property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.14.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate of http://www.ebi.ac.uk/efo/EFO_0003752." xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0003752 [Term] id: EFO:0008718 name: DP-Seq def: "Designed Primer-based RNA-sequencing strategy (DP-seq)" [] xref: PMID:23624976 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008719 name: dRNA-Seq def: "Differential RNA-Seq (dRNA-Seq)" [] xref: PMID:27519343 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008720 name: DroNc-seq def: "Massively parallel sNuc-Seq with droplet technology." [] xref: PMID:28846088 is_a: EFO:0001457 ! RNA assay is_a: EFO:0010183 ! single cell library construction property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008721 name: Drop-ChIP def: "Droplet-based single-cell ChIP-seq (Drop-ChIP)" [] xref: PMID:26458175 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008722 name: Drop-seq def: "Analyze mRNA transcripts from individual cells in droplets (Drop-seq)." [] xref: PMID:26000488 is_a: EFO:0001457 ! RNA assay is_a: EFO:0010183 ! single cell library construction property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008723 name: Droplet-CirSeq def: "Ultra-precise detection of mutations by droplet-based amplification of circularized DNA" [] xref: PMID:26960407 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008724 name: DSB-seq def: "Map DNA double-strand breaks" [] xref: PMID:25056547 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008725 name: DSBCapture def: "Mapping of double-steand DNA breaks" [] xref: PMID:27525976 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008726 name: dsRNA-Seq def: "Double-stranded RNA sequencing (dsRNA-Seq)" [] xref: PMID:20941385 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008727 name: Duplex-Seq def: "Duplex sequencing detects very rare mutations by sequencing and aligning both strands of the DNA" [] xref: PMID:22853953 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008728 name: EC-seq def: "Excision circle sequencing (EC-seq)" [] xref: PMID:25367293 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008729 name: END-seq def: "DNA end resection and DSB discovery" [] xref: PMID:27477910 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008730 name: EnIGMA def: "Enzyme-assisted Identification of Genome Modification Assay" [] xref: PMID:28204635 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008731 name: EPIG-Seq def: "Extracting patterns and identifying genes methodology for RNA-Seq (EPIG-Seq)" [] xref: PMID:27004791 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008732 name: epiGBS def: "Reference-free reduced representation bisulfite sequencing (epiGBS)" [] xref: PMID:26855363 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008733 name: eWGA def: "Emulsion Whole-Genome Amplification" [] xref: PMID:26340991 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008734 name: ezRAD def: "Reduce costs of the original RAD-seq protocol (ezRAD-seq)" [] xref: PMID:24282669 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008735 name: FACS-seq def: "Fluorescence-activated cell sorting and deep sequencing" [] xref: PMID:26816383 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008736 name: Fast-ATAC def: "ATAC-seq optimized for blood cells" [] xref: PMID:27526324 is_a: EFO:0007045 ! ATAC-seq property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008737 name: FAST-iCLIP def: "Integrated pipeline with improved CLIP biochemistry and an automated informatic pipeline (FAST-iCLIP)" [] xref: PMID:25411354 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008738 name: FAST-SeqS def: "Efficient method for the detection of aneuploidy by massively parallel sequencing" [] xref: PMID:22815955 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008739 name: fC-CET def: "Whole-genome analysis of 5fC based on selective chemical labeling (fC-CET)" [] xref: PMID:26344045 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008740 name: fC-Seal def: "A 5-formylcytosine-selective chemical labeling (fC-Seal) approach for genome-wide profiling of 5fC" [] xref: PMID:23602153 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008741 name: fCAB-Seq def: "5fC chemical modification-assisted bisulfite sequencing (fCAB-seq)" [] xref: PMID:23602153 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008742 name: obsolete_FISSEQ def: "Fluorescent in situ RNA sequencing (FISSEQ)" [] xref: PMID:24578530 property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0008990 [Term] id: EFO:0008743 name: FiT-Seq def: "Fixed-tissue chromatin immunoprecipitation sequencing (FiT-Seq)" [] xref: PMID:27111282 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008744 name: FlowSeq def: "FACS followed by DNA extraction, SD-sequence amplification and sequencing (Flow-seq)." [] xref: PMID:23924614 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008745 name: Frag-seq def: "Fragmentation sequencing (Frag-seq)" [] xref: PMID:21057495 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008746 name: FREQ-Seq def: "Quantitative allele frequency detection with the use of barcodes (FREQ-Seq)" [] xref: PMID:23118913 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008747 name: FRISCR def: "Fixed and recovered intact single-cell RNA (FRISCR)" [] xref: PMID:26524239 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008748 name: FRT-Seq def: "Flowcell reverse transcription sequencing (FRT-seq) for strand-specific RNA-Seq" [] xref: PMID:22015844 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008749 name: Fusion-seq def: "Identify fusion transcripts from paired-end RNA-sequencing" [] xref: PMID:20964841 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008750 name: G4 ChIP-seq def: "Antibody-based G4 chromatin immunoprecipitation and high-throughput sequencing" [] xref: PMID:27618450 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008751 name: G4-seq def: "Determine the location of potential G-quadruplexes in DNA (G4-seq)" [] xref: PMID:26192317 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008752 name: GMUCT 1.0 def: "Genome-wide mapping of uncapped transcripts (GMUCT)" [] xref: PMID:18486559 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008753 name: GMUCT 2.0 def: "Genome-wide mapping of uncapped transcripts (GMUCT)" [] xref: PMID:23867340 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008754 name: GRIL-seq def: "Global small non-coding RNA target identification by ligation and sequencing (GRIL-seq)" [] xref: PMID:28005055 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008755 name: GRIP def: "Gamma-retrovirus integration profiling (GRIP)" [] xref: PMID:27097319 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008756 name: GRO-CAP def: "Global run-on protocol called GRO-cap, which captures TSSs for both stable and unstable transcripts" [] xref: PMID:25383968 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008757 name: gSELEX-Seq def: "Genomic systematic evolution of ligands by exponential enrichment (gSELEX-Seq)" [] xref: PMID:27411092 is_a: EFO:0001457 ! RNA assay is_a: EFO:0008918 ! SELEX-seq property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008758 name: GT-seq def: "Genotyping-in-Thousands by sequencing (GT-seq)" [] xref: PMID:25476721 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008759 name: GTI-Seq def: "Ribo-Seq: Ribosome profiling Global translation initiation sequencing (GTI-Seq)" [] xref: PMID:24203712 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008760 name: GUIDE-seq def: "Genome-wide, unbiased identification of DSBs enabled by sequencing (GUIDE-seq), to profile off-target cleavage by CRISPR-Cas nucleases" [] xref: PMID:25513782 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008761 name: HELP-Seq def: "HpaII tiny fragment enrichment by ligation-mediated PCR (HELP-Seq)" [] xref: PMID:19386619 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008762 name: hi-CLIP def: "RNA hybrid and individual-nucleotide resolution ultraviolet crosslinking and immunoprecipitation (hiCLIP)" [] xref: PMID:25799984 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008763 name: Hi-SCL def: "High-throughput Single-Cell Labeling in drop-based microfluidics followed by RNA-seq" [] xref: PMID:26000628 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008764 name: Histone meth. def: "ChIP-Seq of methylated histones (Histone methylation)" [] xref: PMID:17512414 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008765 name: HiTS-Flip def: "High-throughput sequencing: fluorescent ligand interaction profiling (HiTS-FLIP)" [] xref: PMID:21706015 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008766 name: HITS-RAP def: "High-throughput sequencing–RNA affinity profiling (HiTS-RAP)" [] xref: PMID:24809628 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008767 name: hMeDIP-seq def: "Hydroxymethylated DNA immunoprecipitation combined with next generation DNA sequencing (hMeDIP-seq)" [] xref: PMID:21514197 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008768 name: HT-ChIP def: "High-throughput chromatin immunoprecipitation (HT-ChIP)" [] xref: PMID:23429716 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008769 name: HT-SELEX def: "High-throughput systematic evolution of ligands by exponential enrichment (HT-SELEX)" [] xref: PMID:20378718 is_a: EFO:0008918 ! SELEX-seq property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008770 name: HTGTS def: "High-throughput genome-wide translocation sequencing (HTGTS)" [] xref: PMID:21962511 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008771 name: HydEn-seq def: "Hydrolytic end sequencing (HydEn-seq) to reveal replicase- and strand-specific patterns of ribonucleotides in the genome" [] xref: PMID:25622295 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008772 name: hyRAD def: "Hybridization RAD (hyRAD)" [] xref: PMID:26999359 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008773 name: ICE def: "Inosine chemical erasing (ICE)" [] xref: PMID:20835228 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008774 name: iCLIP def: "Individual nucleotide resolution CLIP (iCLIP)" [] xref: PMID:20601959 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008775 name: icSHAPE def: "In vivo click selective 2’-hydroxyl acylation and profiling experiment (icSHAPE)" [] xref: PMID:25799993 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008776 name: iDES def: "Integrated digital error suppression (iDES)" [] xref: PMID:27018799 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008777 name: Ig-Seq def: "DNA sequencing of immunoglobulin genes (Ig-seq) for antibody repertoire determination" [] xref: PMID:23898164 is_a: EFO:0001456 ! DNA assay is_a: EFO:0030014 ! bulk immune repertoire sequencing property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008778 name: IMS-MDA def: "Immunomagnetic separation for targeted bacterial enrichment for MDA (IMS-MDA)" [] xref: PMID:24202554 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008779 name: in-cell SHAPE-Seq def: "Combines in-cell probing of RNA structure with a measurement of gene expression to simultaneously characterize RNA structure and function in bacterial cells" [] xref: PMID:26350218 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008780 name: inDrop def: "Indexing droplets (inDrop)." [] xref: PMID:26000487 is_a: EFO:0001457 ! RNA assay is_a: EFO:0010183 ! single cell library construction property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008781 name: ini-seq def: "Initiation site sequencing" [] xref: PMID:27587586 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008782 name: INSeq def: "Insertion sequencing (INSeq)" [] xref: PMID:19748469 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008783 name: IVT-SAPAS def: "In-vitro transcription SAPAS" [] xref: PMID:26710068 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008784 name: LAM-HTGTS def: "Linear amplification-mediated high-throughput genome-wide sequencing (LAM-HTGTS)" [] xref: PMID:27031497 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008785 name: LIANTI def: "Single-cell whole-genome analyses by Linear Amplification via Transposon Insertion" [] xref: PMID:28408603 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008786 name: LM-Seq def: "Ligation mediated RNA sequencing" [] xref: PMID:25831155 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008787 name: Look-Seq def: "determine the genomic consequences of DNA damage in ruptured micronuclei" [] xref: PMID:26017310 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008788 name: m1A mapping def: "High-throughput sequencing for 1-methyladenosine (m1A) mapping in RNA" [] xref: PMID:26922842 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008789 name: M6A-RIP def: "m6A-specific methylated RNA immunoprecipitation (M6A-RIP)" [] xref: PMID:25456834 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008790 name: m6A-seq def: "m6A-specific methylated RNA immunoprecipitation (m6A-seq)" [] xref: PMID:22575960 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008791 name: MAF def: "Molecular amplification fingerprinting" [] xref: PMID:26998518 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008792 name: MAINE-Seq def: "MNase-assisted isolation of nucleosomes (MAINE-Seq)." [] xref: PMID:20054063 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008793 name: MALBAC def: "Multiple annealing and looping-based amplification cycles (MALBAC)" [] xref: PMID:23258894 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008794 name: MARDI def: "Mutation Analysis With Random DNA Identifiers (MARDI)" [] xref: PMID:26683280 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008795 name: MARIO def: "Mapping RNA interactome in vivo (MARIO)" [] xref: PMID:27338251 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008796 name: MARS-seq def: "Massively parallel RNA single-cell sequencing framework." [] xref: PMID:24531970 is_a: EFO:0001457 ! RNA assay is_a: EFO:0010183 ! single cell library construction property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008797 name: MATQ-seq def: "Multiple annealing and dC-tailing-based quantitative single-cell RNA-seq (MATQ-seq)" [] xref: PMID:28092691 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008798 name: MBDCap-Seq def: "Methyl-CpG binding domain-based capture and sequencing (MDBCap-seq)" [] xref: PMID:22968699 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008799 name: MCC-Seq def: "MethylC-capture sequencing" [] xref: PMID:26021296 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008800 name: MDA def: "Multiple displacement amplification (MDA)" [PMID:11381035, Wikipedia:Multiple_displacement_amplification] is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008801 name: MDS def: "Maximum-Depth sequencing" [] xref: PMID:27338792 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008802 name: ME-Scan-SVA def: "A mobile element scanning protocol (ME-Scan-SVA)" [] xref: PMID:27478512 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008803 name: MeRIP-Seq def: "m6A-specific methylated RNA immunoprecipitation with nextgeneration sequencing (MeRIP-Seq)" [] xref: PMID:22608085 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008804 name: Methyl-seq def: "Methyl-seq: uses methyl-sensitive enzymes to identify methylation patterns" [] xref: PMID:19273619 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008805 name: MethylCap-Seq def: "Capture of methylated DNA using the MBD domain of MeCP2 (MethylCap-Seq)" [] xref: PMID:20542119 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008806 name: miCLIP-m5A def: "A customized version of the individual-nucleotide-resolution crosslinking and immunoprecipitation (iCLIP) method (miCLIP)" [] xref: PMID:23871666 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008807 name: miCLIP-m6A def: "m6A individual-nucleotide-resolution cross-linking and immunoprecipitation (miCLIP)" [] xref: PMID:26121403 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008808 name: Micro-C XL def: "Micro-C is a type of Hi-C assay which uses micrococcal nuclease digestion in place of the restriction enzyme digestion step." [] xref: PMID:27723753 is_a: EFO:0002697 ! assay by high throughput sequencer is_a: EFO:0007693 ! Hi-C relationship: RO:0000057 EFO:0002699 ! has_participant high throughput sequencer property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008809 name: MIDAS def: "Massively parallel polymerase cloning and genome sequencing of single cells using nanoliter microwells." [] synonym: "microwell displacement amplification system" EXACT [] xref: PMID:24213699 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008810 name: middRAD def: "ddRAD optimized for plants (middRAD)" [] xref: PMID:27493679 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008811 name: MiGS def: "MBD-isolated Genome Sequencing (MiGS)" [] xref: PMID:19906696 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008812 name: MINCE-seq def: "Mapping In vivo Nascent Chromatin with EdU and sequencing (MINCE-seq)" [] xref: PMID:27062929 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008813 name: Mint-ChIP def: "Multiplexed, indexed T7 ChIP-seq" [] xref: PMID:26687680 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008814 name: MIPSTR def: "Targeted capture of STR loci by smMIPs (MIPSTR)" [] xref: PMID:25659649 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008815 name: MiR‐CLIP def: "MicroRNA crosslinking and immunoprecipitation (miR-CLIP)" [] xref: PMID:25531890 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008816 name: MIRA def: "Methylated-CpG island recovery assay (MIRA)" [] xref: PMID:20304072 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008817 name: MitoRCA-seq def: "MitoRCA-seq to detect low-frequency mtDNA point mutations" [] xref: PMID:26212336 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008818 name: miTRAP def: "miRNA trapping by RNA in vitro affinity purification (miTRAP)" [] xref: PMID:24510096 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008819 name: mNET-seq def: "Native elongating transcript sequencing technology for mammalian chromatin (mNET-seq)" [] xref: PMID:25910207 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008820 name: Mosaic-Seq def: "CRISPR barcoding system to jointly measure a cell's transcriptome and its sgRNA modulators" [] xref: PMID:28416141 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008821 name: MPE-seq def: "Methidiumpropyl-EDTA sequencing (MPE-seq)" [] xref: PMID:26080409 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008822 name: MPRA def: "Massively parallel reporter assay (MPRA)" [] xref: PMID:26576614 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008823 name: Mseek def: "A technique to purify and sequence mtDNA" [] xref: PMID:25653158 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008824 name: NanoCAGE def: "nanoCAGE: a method that captures the 5′ ends of transcripts from as little as 10 ng of total RNA" [] xref: PMID:20543846 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008825 name: Nanogrid RNA-Seq def: "High-throughput 3′ single-nucleus RNA sequencing" [] xref: PMID:28794488 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008826 name: NET-Seq def: "Native elongating transcript sequencing (NET-Seq)" [] xref: PMID:21248844 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008827 name: NG Capture-C def: "Next-generation capture-C" [] xref: PMID:26595209 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008828 name: Nm-seq def: "Map 2′-O-methylation sites in human mRNA" [] xref: PMID:28504680 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008829 name: NOIR def: "Non-overlapping integrated reads (NOIR)" [] xref: PMID:26126624 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008830 name: NOME-Seq def: "Nucleosome Occupancy Methylome- Sequencing (NOMe-Seq), a single-molecule nucleosome positioning assay" [] xref: PMID:21835883 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008831 name: NS-seq def: "Nascent strand sequencing (NS-seq) to discover DNA replication origins and G4 structures" [] xref: PMID:25695952 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008832 name: NSCR def: "Nascent strand capture and release (NSCR)" [] xref: PMID:25762552 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008833 name: nuc-ChIP-seq def: "Nucleosome-chromatin immuno-precipitation" [] xref: PMID:27462443 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008834 name: nucleosome sequencing def: "Micrococcal nuclease mapping of nucleosomes (Nuc-seq)" [] synonym: "Nuc-seq" EXACT [] xref: PMID:20512117 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008835 name: nuc-seq def: "Single G2/M nucleus sequencing of cells in S phase (nuc-seq)" [] xref: PMID:25079324 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008836 name: Nucleo-Seq def: "Nucleo-Seq, to determine nucleosome organization across the genome" [] xref: PMID:21602827 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008837 name: OK-Seq def: "Okazaki Fragment Sequencing" [] xref: PMID:26751768 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008838 name: ORGANIC def: "Occupied regions of genomes from affinity-purified naturally isolated chromatin (ORGANIC)" [] xref: PMID:23468649 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008839 name: OS-Seq def: "Oligonucleotide-selective sequencing (OS-Seq) captures and sequence gene targets on the flow cell" [] xref: PMID:22020387 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008840 name: oxBS-Seq def: "Oxidative bisulfite sequencing (oxBS-Seq) to map 5-methylcytosine and 5-hydroxymethylcytosine" [] xref: PMID:22539555 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008841 name: PAIR def: "Peptide nucleic acid-assisted identification of RBP (PAIR)" [] xref: PMID:26202289 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008842 name: Paired VH:VL Antibody Repertoire Analysis def: "Paired VH:VL Antibody Repertoire Analysis" [] xref: PMID:23334449 is_a: EFO:0001457 ! RNA assay is_a: EFO:0030014 ! bulk immune repertoire sequencing property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008843 name: PAL-seq def: "Poly(A)-tail length profiling by sequencing (PAL-seq)" [] xref: PMID:24476825 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008844 name: PAPERCLIP def: "High performance mRNA 3' end mapping method based on the CLIP technique" [] xref: PMID:27050522 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008845 name: PAR-CLIP def: "Photoactivatable-Ribonucleoside-Enhanced Crosslinking and Immunoprecipitation (PAR-CLIP)" [] xref: PMID:20371350 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008846 name: PARE-Seq def: "Parallel analysis of RNA ends (PARE)" [] xref: PMID:18542052 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008847 name: PARIS def: "Reversible psoralen crosslinking for global mapping of RNA duplexes in living cells" [] xref: PMID:27180905 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008848 name: PARS def: "Parallel analysis of RNA structure (PARS)" [] xref: PMID:23558785 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008849 name: PARTE def: "Parallel analysis of RNA structures with temperature elevation (PARTE)" [] xref: PMID:22981864 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008850 name: PAS-Seq def: "Poly(A) site sequencing (PAS-Seq)" [] xref: PMID:21343387 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008851 name: PAT-Seq def: "Poly(A)-Test RNA-sequencing" [] xref: PMID:26092945 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008852 name: PAT–ChIP def: "Pathology tissue chromatin immunoprecipitation (PAT-ChIP)" [] xref: PMID:22082985 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008853 name: Patch-seq def: "Combine whole-cell electrophysiological patch-clamp recordings, single-cell RNA-sequencing, and morphological characterization (Patch-Seq)" [] xref: PMID:26689543 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008854 name: PB-seq def: "Protein/DNA binding (PB–seq), to determine the binding energy landscape" [] xref: PMID:22479205 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008855 name: PBAT def: "Post-Bisulfite Adaptor Tagging (PBAT)" [] xref: PMID:22649061 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008856 name: PD-Seq def: "PD-Seq identifies candidate cellular targets for proteins" [] xref: PMID:23697369 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008857 name: PDZ-Seq def: "Proteomic peptide-phage display (ProP-PD) to identify PDZ domains" [] xref: PMID:20714644 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008858 name: PE RAD-Seq def: "Paired-end restriction-site associated DNA marker generation (PE RAD)" [] xref: PMID:21712251 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008859 name: PEAT def: "Paired-end analysis of transcription start sites (PEAT)" [] xref: PMID:20495556 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008860 name: Perturb-Seq def: "Scalable Single-Cell RNA Profiling of Pooled Genetic Screens" [] xref: PMID:27984732 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008861 name: PhIP-seq def: "Phage immunoprecipitation sequencing (PhIP-seq)" [] xref: PMID:21602805 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008862 name: PIP-Seq def: "Protein interaction profile sequencing (PIP-seq)" [] xref: PMID:24393486 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008863 name: PLATE-Seq def: "Geome-wide mRNA profiling methodology to complement high-throughput screening assays" [] xref: PMID:28740083 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008864 name: PMA def: "Phi29 DNA polymerase multiple amplification (PMA)" [PMID:23267071, Wikipedia:Multiple_displacement_amplification#Phi_29_DNA_polymerase] is_a: EFO:0008800 ! MDA property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008865 name: Pol II CLIP def: "Crosslinking and immunoprecipitation of Pol II (Pol II CLIP)" [] xref: PMID:25664725 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008866 name: Poly(A)-ClickSeq def: "Sensitive and specific enrichment for poly(A) site junctions without the need for complex samples preparation, fragmentation or purification." [] synonym: "PAC-Seq" EXACT [] xref: PMID:28449108 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008867 name: Pool-Seq def: "Pooled whole-genome re-sequencing (Pool-seq)" [] xref: PMID:22291611 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008868 name: PRO-cap def: "Precision nuclear run-on and sequencing to detect Pol II initiation sites (PRO-cap)" [] xref: PMID:23430654 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008869 name: PRO-seq def: "Precision nuclear run-on and sequencing to detect Pol II pause sites (PRO-seq)" [] xref: PMID:23430654 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008870 name: Profiler def: "Identification of antigenic regions preferentially targeted by polyclonal antibody responses" [] xref: PMID:27530334 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008871 name: ProP-PD def: "Proteomic peptide-phage display (ProP-PD) to identify domain–short linear motif (SLiM) interactions" [] xref: PMID:24550280 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008872 name: Pseudo-seq def: "Pseudo-seq: a method for genome-wide pseudouridine identification" [] xref: PMID:25192136 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008873 name: PSI-seq def: "Pseudouridine site identification sequencing (PSI-seq)" [] xref: PMID:25353621 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008874 name: PTB-Seq def: "Genome-wide mapping of PTB-RNA interactions (PTB-Seq)" [] xref: PMID:20064465 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008875 name: Pu-seq def: "Polymerase usage sequencing (Pu-seq)" [] xref: PMID:25664722 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008876 name: Pvu-Seal-seq def: "Map 5-hydroxymethylcytosine and 5-formylcytosine genome-wide (Pvu-Seal-seq)" [] xref: PMID:25639471 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008877 name: Quartz-seq def: "Whole-transcript amplification for single-cells (Quartz-Seq)." [] xref: PMID:23594475 is_a: EFO:0001457 ! RNA assay is_a: EFO:0010183 ! single cell library construction property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008878 name: restriction-site associated DNA sequencing def: "Restriction-site associated DNA (RAD) marker generation" [] synonym: "RAD" EXACT [] xref: PMID:18852878 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008879 name: RAD-tag def: "RAD-Tagging for low-coverage shotgun phylogenetics" [] xref: PMID:24828244 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008880 name: RAP def: "RNA antisense purification (RAP)" [] xref: PMID:23828888 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008881 name: Rapture def: "RAD capture (Rapture)" [] xref: PMID:26715661 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008882 name: RARseq def: "Restriction site associated RNA sequencing" [] xref: PMID:26241739 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008883 name: RBBS def: "Reduced-representation bisulfite sequencing (RBBS)" [] xref: PMID:18600261 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008884 name: RBNS def: "RNA Bind-n-Seq (RBNS)" [] xref: PMID:24837674 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008885 name: RC-Seq def: "Retrotransposon capture sequencing (RC-Seq)" [] xref: PMID:22037309 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008886 name: RedBS-Seq def: "Reduced bisulfite sequencing (redBS-Seq), to map 5-formylcytosine (5fC) in DNA" [] xref: PMID:24755596 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008887 name: Rep-Seq def: "DNA sequencing of immunoglobulin genes for antibody repertoire determination (Rep-Seq)" [] xref: PMID:22043864 is_a: EFO:0001456 ! DNA assay is_a: EFO:0030014 ! bulk immune repertoire sequencing property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008888 name: RepeatSeq def: "A tool for genotyping microsatellite repeats (RepeatSeq)" [] xref: PMID:23090981 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008889 name: Repli-Seq def: "Repli-seq is an assay that involves sequencing nascent replicating DNA strands." [] xref: PMID:19966280 is_a: EFO:0001456 ! DNA assay is_a: EFO:0005032 ! IP-seq property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008890 name: rG4-seq def: "RNA G-quadruplex sequencing (rG4-seq)" [] xref: PMID:27571552 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008891 name: Ribo-seq def: "Ribosome profiling (also named ribosome footprinting) that uses specialized messenger RNA (mRNA) sequencing to determine which mRNAs are being actively translated. It produces a “global snapshot” of all the ribosomes active in a cell at a particular moment, known as a translatome." [] synonym: "active mRNA translation sequencing" EXACT [] synonym: "ARTSeq" EXACT [] synonym: "Ribo-Seq" EXACT [] synonym: "ribosome footprinting" EXACT [] synonym: "ribosome profiling" EXACT [] xref: PMID:19213877 xref: Wikipedia:Ribosome_profiling is_a: EFO:0001457 ! RNA assay is_a: EFO:0003740 ! assay by sequencer property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008892 name: RiboMeth-seq def: "Map 2'-O-methylated riboses in ribosomal RNAs" [] xref: PMID:28031372 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008893 name: Ribose-seq def: "Detect ribonucleotides embedded in DNA (Ribose-seq)" [] xref: PMID:25622106 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008894 name: RICC-seq def: "Radiation-induced spatially correlated cleavage of DNA with sequencing (RICC-seq)" [] xref: PMID:28024297 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008895 name: RIL-seq def: "RNA interaction by ligation and sequencing (RIL-seq)" [] xref: PMID:29215635 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008896 name: RNA-Seq def: "RNA-seq is a method that involves purifying RNA and making cDNA, followed by high-throughput sequencing." [] xref: PMID:18516045 is_a: EFO:0001457 ! RNA assay is_a: EFO:0002697 ! assay by high throughput sequencer relationship: RO:0000057 EFO:0002699 ! has_participant high throughput sequencer property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008897 name: RNAtag-Seq def: "Generate multiple RNA-seq libraries in a single reaction (RNAtag-Seq)" [] xref: PMID:25730492 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008898 name: RNET-seq def: "Elongating transcript sequencing (NET-seq) with RNase footprinting of the transcripts (RNET-seq)" [] xref: PMID:25976475 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008899 name: RPL def: "RNA proximity Ligation" [] xref: PMID:26237516 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008900 name: RRBS def: "Reduced representation bisulfite sequencing (RRBS-Seq)" [] xref: PMID:18600261 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008901 name: Safe-SeqS def: "Safe-sequencing system is a unique molecular identifier approach to detect rare variants (Safe-SeqS)" [] xref: PMID:21586637 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008902 name: SAPAS def: "Seqeuencing APA Sites" [] xref: PMID:21474764 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008903 name: SC3-seq def: "Single-cell mRNA3-prime end sequencing followed by 3-prime-end enrichment" [] xref: PMID:25722368 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008904 name: scATAC-seq (Microfluidics) def: "A single cell ATAC-seq method for mapping single cell genomes for transposase-accessible chromatin. Single nuclei are isolated using a microfluidics platform such as Fluidigm C1." [http://orcid.org/0000-0001-7505-5418] synonym: "single cell ATAC-seq (Microfluidics)" EXACT [] xref: PMID:26083756 is_a: EFO:0010891 ! scATAC-seq property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008905 name: scBS-seq def: "Single-cell bisulfite sequencing (scBS-seq)." [] xref: PMID:25042786 is_a: EFO:0001456 ! DNA assay is_a: EFO:0010183 ! single cell library construction property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008906 name: scChIP-seq def: "Droplet-based single-cell ChIP-seq (Drop-ChIP)." [] xref: PMID:26458175 is_a: EFO:0001456 ! DNA assay is_a: EFO:0010183 ! single cell library construction property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008907 name: scDNase-seq def: "DNase-seq to detect genome-wide DNase I hypersensitive sites in single cells" [] xref: PMID:26605532 is_a: EFO:0003752 ! DNase-hypersensitivity seq property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008908 name: SCI-seq def: "Single-cell combinatorial indexed sequencing (SCI-seq)" [] xref: PMID:28135258 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008909 name: SCL-exo def: "Selective chemical labeling of 5hmC (SCL-exo)" [] xref: PMID:27025842 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008910 name: SCMDA def: "Single-cell multiple displacement amplification (SCMDA)" [] xref: PMID:28319112 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008911 name: scMT-Seq def: "Single-cell methylome and transcriptome sequencing" [] xref: PMID:27150361 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008912 name: scRC-Seq def: "Single-cell retrotransposon capture sequencing (RC-Seq)" [] xref: PMID:25860606 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008913 name: single-cell RNA sequencing def: "A protocol that provides the expression profiles of single cells via the isolation and barcoding of single cells and their RNA, reverse transcription, amplification, library generation and sequencing." [Wikipedia:Single cell sequencing] synonym: "scRNA-seq" EXACT [] synonym: "single cell RNA sequencing" EXACT [] synonym: "single-cell RNA-seq" EXACT [PMID:29851283] synonym: "single-cell transcriptome sequencing" EXACT [Wikipedia:Single cell sequencing] xref: PMID:19349980 is_a: EFO:0001457 ! RNA assay is_a: EFO:0007832 ! single cell sequencing property_value: http://purl.org/dc/elements/1.1/contributor http://orcid.org/0000-0002-1773-2692 xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008914 name: scRRBS def: "Single cell RRBS (scRRBS)" [] xref: PMID:25837417 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008915 name: scTHS-seq def: "Single-cell transposome hypersensitive site sequencing (scTHS-seq)" [] xref: PMID:29227469 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008916 name: scWGBS def: "Single cell WGBS optimized for profiling many samples at low coverage" [] xref: PMID:25732828 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008917 name: obsolete_SELEX property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.15.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate of http://www.ebi.ac.uk/efo/EFO_0008918." xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0008918 [Term] id: EFO:0008918 name: SELEX-seq def: "Systematic evolution of ligands by exponential enrichment (SELEX-seq)." [] synonym: "SELEX" EXACT [] xref: PMID:20378718 xref: PMID:22153072 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008919 name: Seq-Well def: "Barcoded mRNA capture beads and single cells are sealed in an array of subnanoliter wells." [] xref: PMID:28192419 is_a: EFO:0001457 ! RNA assay is_a: EFO:0010183 ! single cell library construction property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008920 name: SeqZip def: "Improvements on RASL-seq" [] xref: PMID:25866926 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008921 name: SHAPE-MaP def: "Selective 2’-hydroxyl acylation analyzed by primer extension and mutational profiling (SHAPE-MaP)" [] xref: PMID:25028896 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008922 name: SHAPE-Seq def: "Selective 2’-hydroxyl acylation analyzed by primer extension sequencing (SHAPE-Seq)" [] xref: PMID:21642531 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008923 name: SiMSen-Seq def: "Sensitive mutation detection using Sequencing (SiMSen-Seq)" [] xref: PMID:27060140 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008924 name: Simul-seq def: "Combined DNA and RNA sequencing for whole-genome and transcriptome profiling" [] xref: PMID:27723755 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008925 name: scATAC-seq (cell index) def: "A single cell ATAC-seq method for multiplex profiling of chromatin accessibility by combinatorial cellular indexing. Single nuclei are identified by the unique combination of n5 barcodes and indices rather than by isolation." [http://orcid.org/0000-0001-7505-5418] synonym: "sci-ATAC-seq" EXACT [] synonym: "single cell ATAC-seq (cell index)" EXACT [] xref: PMID:25953818 is_a: EFO:0010891 ! scATAC-seq property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008926 name: SITE-Seq def: "Cas9 programmed with single-guide RNAs (sgRNAs)" [] xref: PMID:28459459 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008927 name: SLAF-Seq def: "Specific locus amplified fragment sequencing (SLAF-seq)" [] xref: PMID:23527008 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008928 name: SLBS def: "Single-cell locus-specific bisulfite sequencing (SLBS) measuring DNA methylation" [] xref: PMID:25897117 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008929 name: SMA def: "Semirandom primed PCR-based mRNA transcriptome amplification (SMA)" [] xref: PMID:23267071 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008930 name: Smart-seq def: "Switch mechanism at the 5’ end of RNA templates (Smart)." [] xref: PMID:22820318 is_a: EFO:0001457 ! RNA assay is_a: EFO:0010184 ! Smart-like property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008931 name: Smart-seq2 def: "Switch mechanism at the 5’ end of RNA templates (Smart). According to the authors, Smart-seq2 transcriptome libraries have improved detection, coverage, bias and accuracy compared to Smart-seq libraries, and are generated with off-the-shelf reagents at lower cost." [] xref: PMID:24056875 is_a: EFO:0001457 ! RNA assay is_a: EFO:0010184 ! Smart-like property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008932 name: SMDB def: "Single-molecule droplet barcoding" [] xref: PMID:27353563 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008933 name: SMiLE-seq def: "Selective microfluidics-based ligand enrichment followed by sequencing (SMiLE-seq)" [] xref: PMID:28092692 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008934 name: SMIT def: "Single-molecule intron tracking" [] xref: PMID:27020755 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008935 name: smMIP def: "Single molecule molecular inversion probes (smMIPs) for detecting low frequency targets" [] xref: PMID:23382536 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008936 name: SMORE-Seq def: "Simultaneous mapping of RNA ends by sequencing (SMORE-seq)" [] xref: PMID:24413663 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008937 name: snDrop-seq def: "Single-nucleus droplet-based sequencing (snDrop-seq)" [] xref: PMID:29227469 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008938 name: SNES def: "Single nucleus exome sequencing (SNES)" [] xref: PMID:25853327 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008939 name: snmC-seq def: "Single-cell methylomes" [] xref: PMID:28798132 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008940 name: obsolete_snRNA-seq property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.31.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate of http://www.ebi.ac.uk/efo/EFO_0009809." xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0009809 [Term] id: EFO:0008941 name: sNuc-Seq def: "A single nucleus RNA-Seq method (sNuc-Seq)" [] xref: PMID:27471252 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008942 name: Sono-Seq def: "Sonication of cross-linked chromatin, (Sono-Seq) to map locations of high chromatin accessibility" [] xref: PMID:19706456 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008943 name: SPARE def: "Specific parallel amplification of 5’ RNA Ends (SPARE) to identify microRNA processing intermediates" [] xref: PMID:24018204 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008944 name: SpDamID def: "Split DamID (SpDamID)," [] xref: PMID:26257285 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008945 name: SPET-seq def: "Structural Probing of Elongating Transcripts" [] xref: PMID:28934475 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008946 name: SPLAT def: "Splinted ligation adapter tagging (SPLAT)" [] xref: PMID:27899585 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008947 name: sRNA-Seq def: "Small RNA seq (sRNA-seq)" [] xref: PMID:19074682 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008948 name: SS3-Seq def: "Strand-specific 3’-end RNA-seq (SS3-Seq)" [] xref: PMID:20421314 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008949 name: SSB-Seq def: "Map DNA single-strand breaks" [] xref: PMID:25056547 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008950 name: ssRNA-seq def: "Strand-specific RNA-seq (ssRNA-seq)" [] xref: PMID:19609351 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008951 name: STATseq def: "Rapid whole-genome sequencing (STATseq)" [] xref: PMID:25937001 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008952 name: Strand-seq def: "Single-cell template strand sequencing" [] xref: PMID:28492527 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008953 name: STRT-seq def: "Single-cell tagged reverse transcription (STRT)." [] xref: PMID:21543516 is_a: EFO:0001457 ! RNA assay is_a: EFO:0010183 ! single cell library construction property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008954 name: STRT-seq-2i def: "Dual-index 5ʹ single cell and nucleus RNA-seq" [] xref: PMID:29180631 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008955 name: Structure-Seq def: "Use dimethyl sulphate methylation of unprotected adenines and cytosines (Structure-Seq)" [] xref: PMID:24270811 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008956 name: SUPeR-seq def: "Single-cell universal poly(A)-independent RNA sequencing (SUPeR-seq)" [] xref: PMID:26201400 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008957 name: T-WGBS def: "Tagmentation-based whole-genome bisulfite sequencing (T-WGBS)" [] xref: PMID:24071908 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008958 name: TAB-Seq def: "TET-assisted bisulfite sequencing, (TAB-Seq) to map 5-hydroxymethylcytosine" [] xref: PMID:22608086 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008959 name: TaDa def: "Targeted DamID (TaDa)" [] xref: PMID:27490632 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008960 name: TAIL-seq def: "Measure genome-wide poly(A) tail lengths (TAIL-seq)" [] xref: PMID:24582499 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008961 name: TAmC-Seq def: "Tet-assisted 5-methylcytosine sequencing (TAmC-Seq)" [] xref: PMID:23443545 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008962 name: TARDIS def: "TARDIS, a targeted RNA directional sequencing method for rare RNA discovery." [] xref: PMID:26513670 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008963 name: TATL-seq def: "Translation-associated TL-seq (TATL-seq)" [] xref: PMID:23580730 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008964 name: TC-Seq def: "Translocation capture sequencing (TC-Seq)" [] xref: PMID:21962510 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008965 name: TCC def: "Tethered conformation capture (TCC)" [] xref: PMID:27036078 is_a: EFO:0007688 ! chromosome conformation capture assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008966 name: TCR Chain Paring def: "Identify T-cell Receptor (TCR) alpha–beta chain pairing in single cells" [] xref: PMID:23696157 is_a: EFO:0001457 ! RNA assay is_a: EFO:0030015 ! single cell immune repertoire sequencing property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008967 name: TCR-LA-MC PCR def: "TCR ligation-anchored-magnetically captured PCR (TCR-LA-MC PCR)" [] xref: PMID:26324409 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008968 name: Term-Seq def: "Directly sequences exposed RNA 3′ ends in bacteria, yielding a genome-wide map of RNA termini" [] xref: PMID:27120414 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008969 name: THS-seq def: "Transposome hypersensitive sites sequencing (THS-seq)" [] xref: PMID:26846207 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008970 name: TIF-Seq def: "Transcript isoform sequencing (TIF-Seq)" [] xref: PMID:23615609 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008971 name: TIVA def: "Transcriptome in vivo analysis (TIVA)" [] xref: PMID:24412976 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008972 name: TL-seq def: "Enzymatic capture of m7G-capped mRNA 5’ ends (TL-seq)" [] xref: PMID:23580730 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008973 name: TN-Seq def: "Transposon sequencing (TN-Seq)" [] xref: PMID:23712350 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008974 name: Tomo-Seq def: "Combine traditional histological techniques with low-input RNA sequencing (Tomo-seq)" [] xref: PMID:25417113 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008975 name: TRAP-Seq def: "Targeted purification of polysomal mRNA (TRAP-Seq)" [] xref: PMID:20924354 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008976 name: TRIBE def: "Targets of RNA-binding proteins identified by editing (TRIBE)" [] xref: PMID:27040499 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008977 name: TruePrime def: "TthPrimPol-based WGA method for single cells" [] xref: PMID:27897270 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008978 name: TSS Sequencing def: "Transcription Start Site Sequencing" [] xref: PMID:25905671 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008979 name: Tuba-seq def: "Tumor barcoding with ultradeep barcode sequencing" [] xref: PMID:28530655 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008980 name: UMI Method def: "Unique molecular identifiers (UMIs) uniquely identify copies derived from each molecule" [] xref: PMID:22101854 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008981 name: VDJ-Seq def: "VDJ sequencing (VDJ-seq)" [] xref: PMID:27264181 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008982 name: VirCapSeq-VERT def: "Virome capture sequencing platform for vertebrate viruses" [] xref: PMID:26396248 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008983 name: VirScan def: "Analyze antiviral antibodies using immunoprecipitation" [] xref: PMID:26045439 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008984 name: WGA-X def: "Improved genome recovery and integrated cell-size analyses of individual uncultured microbial cells and viral particles" [] xref: PMID:28729688 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008985 name: WGBS def: "Whole-genome bisulfite sequencing (WGBS)" [] xref: PMID:19829295 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008986 name: X-ChIP-seq def: "High resolution of mapping of in vivo chromatin associated proteins" [] xref: PMID:24737864 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008987 name: YAMAT-Seq def: "Y-shaped adapter-ligated mature tRNA sequencing (YAMAT-seq)" [] xref: PMID:28108659 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008988 name: Ψ-seq def: "Pseudouridine site identification sequencing (Ψ-seq)" [] synonym: "psi-seq" EXACT [] xref: PMID:25219674 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008989 name: in situ sequencing def: "In situ sequencing is a method for parallel targeted analysis of short RNA fragments in morphologically preserved cells and tissue. The method is based on padlock probing, rolling-circle amplification (RCA) and sequencing-by-ligation chemistry" [] synonym: "ISS" EXACT [] xref: PMID:23852452 is_a: EFO:0008994 ! spatial transcriptomics property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008990 name: FISSEQ def: "genome-wide profiling of gene expression in situ in fixed cells and tissues, in which RNA is converted into cross-linked cDNA amplicons and sequenced manually on a confocal microscope" [] comment: To support FISSEQ being a child of 'in situ sequencing': this would mirror the layout for 'in-situ hybridization assay'. However, it is not entirely clear if all FISSEQ assays involve a padlock probe, but rolling-circle amplification is applicable {xref="https://orcid.org/0000-0003-4389-9821", xref="https://www.nature.com/articles/nprot.2014.191"} synonym: "fluorescent in situ RNA sequencing" EXACT [] synonym: "fluorescent in situ sequencing" EXACT [] xref: PMID:25675209 is_a: EFO:0008989 ! in situ sequencing property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008991 name: seqFISH def: "seqFISH is an in situ 3D multiplexed imaging method" [] synonym: "sequential fluorescence in situ hybridization" EXACT [] xref: PMID:27764670 is_a: EFO:0009918 ! smFISH property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008992 name: MERFISH def: "MERFISH is an image-based approach to single-cell transcriptomics in which RNAs are identified via a combinatorial labeling approach that encodes RNA species with error-robust barcodes followed by sequential rounds of single-molecule fluorescence in situ hybridization (smFISH) to read out these barcodes" [] synonym: "multiplexed error-robust fluorescence in situ hybridization" EXACT [] xref: PMID:27625426 is_a: EFO:0009918 ! smFISH property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008993 name: Ex-FISH def: "Ex-FISH is a fluorescent in situ hybrization approach which separates RNAs through covalent attachment to a swellable polyelectrolyte gel synthesized throughout a biological specimen. It supports amplification of single-molecule signals as we as multiplexed RNA FISH readout." [] synonym: "expansion fluorescence in situ hybridization" EXACT [] xref: PMID:27376770 is_a: EFO:0009918 ! smFISH property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008994 name: spatial transcriptomics def: "assay that allows visualization and quantitative analysis of the transcriptome with spatial resolution in individual tissue sections" [] xref: PMID:27365449 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008995 name: 10x technology def: "10x is a \"synthetic long-read\" technology and works by capturing a barcoded oligo-coated gel-bead and 0.3x genome copies into a single emulsion droplet, processing the equivalent of 1 million pipetting steps. Successive versions of the 10x chemistry use different barcode locations to improve the sequencing yield and quality of 10x experiments." [] synonym: "10X" BROAD [] synonym: "10x" BROAD [] synonym: "10x Genomics" EXACT [] synonym: "10X sequencing" RELATED [] synonym: "10x sequencing" RELATED [] synonym: "10x single cell library construction" EXACT [] is_a: EFO:0010183 ! single cell library construction property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0008997 name: synovitis def: "Inflammation of a synovial membrane." [NCIT:C50766] def: "Inflammation of the SYNOVIAL MEMBRANE [ MeSH ]" [] synonym: "inflammation of synovial membrane of synovial joint" EXACT [] synonym: "Synovial Hypertrophy" EXACT [] synonym: "synovial membrane of synovial joint inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "Synovial Thickening" EXACT [] synonym: "Synovitides" RELATED [MESH:D013585] synonym: "synovitis" EXACT [MONDO:ambiguous] synonym: "synovitis" EXACT [] {comment="preferred label from MONDO"} synonym: "synovitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:2703 {source="MONDO:equivalentTo"} xref: HP:0100769 {source="MONDO:otherHierarchy"} xref: MedDRA:10042868 xref: MESH:D013585 {source="MONDO:equivalentTo", source="DOID:2703"} xref: MeSH:D013585 xref: MONDO:0002400 xref: NCIT:C50766 {source="MONDO:equivalentTo", source="DOID:2703"} xref: NCIt:C50766 xref: SCTID:416209007 {source="MONDO:equivalentTo", source="DOID:2703"} xref: UMLS:C0039103 is_a: EFO:0005856 ! arthritis is_a: EFO:1001986 {source="DOID:2703", source="MONDO:indirect"} ! connective tissue disease is_a: MONDO:0043786 ! serositis is_a: MONDO:0056799 ! synovium disorder relationship: disease_has_feature EFO:0005856 ! arthritis property_value: exactMatch DOID:2703 property_value: exactMatch http://identifiers.org/mesh/D013585 property_value: exactMatch http://identifiers.org/snomedct/416209007 property_value: exactMatch NCIT:C50766 property_value: IAO:0000117 "Zoe May Pendlington" xsd:string property_value: IAO:0000589 "synovitis (disease)" xsd:string [Term] id: EFO:0008998 name: acute synovitis def: "An acute inflammation of a synovial membrane. It is associated with swelling and pain in the affected area. [ NCI ]" [] xref: MedDRA:10066665 xref: NCIt:C97140 xref: UMLS:C1739148 is_a: EFO:0008997 ! synovitis property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009000 name: Mast Cell Neoplasm def: "A heterogeneous group of disorders characterized by the abnormal growth and accumulation of mast cells in one or more organ systems. Recent data suggest that most variants of mast cell neoplasms are clonal disorders. (WHO, 2001)" [NCIT:C9295] synonym: "mast cell neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "mast cell neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "mast cell neoplasm" EXACT [NCIT:C9295] synonym: "Mast cell proliferative disease" EXACT [DOID:3664, NCIT:C9295] synonym: "Mast cell tumor" EXACT [NCIT:C9295] synonym: "mast cell tumor" EXACT [DOID:3664, NCIT:C9295] synonym: "Mast cell tumour" EXACT OMO:0003005 [] synonym: "mast cell tumour" EXACT OMO:0003005 [] synonym: "neoplasm of Mast cells" EXACT [NCIT:C9295] synonym: "neoplasm of the Mast cells" EXACT [NCIT:C9295] synonym: "tumor of Mast cells" EXACT [NCIT:C9295] synonym: "tumor of the Mast cells" EXACT [NCIT:C9295] synonym: "tumour of Mast cells" EXACT OMO:0003005 [] synonym: "tumour of the Mast cells" EXACT OMO:0003005 [] xref: DOID:3664 {source="MONDO:equivalentTo"} xref: EFO:0009000 {source="MONDO:equivalentTo"} xref: ICD10:D47.0 {source="DOID:3664"} xref: ICD9:238.79 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:238.79 {source="MONDO:relatedTo", source="i2s"} xref: MONDO:0002724 xref: NCIT:C9295 {source="DOID:3664", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C9295 {source="DOID:3664", source="MONDO:equivalentTo", source="exact-label-match"} xref: SCTID:414653009 {source="DOID:3664", source="MONDO:equivalentTo"} xref: UMLS:C0334664 {source="DOID:3664", source="MONDO:equivalentTo", source="NCIT:C9295"} is_a: EFO:0002427 {source="EFO:0009000", source="NCIT:C9295"} ! myeloid neoplasm property_value: closeMatch http://identifiers.org/snomedct/127581004 property_value: closeMatch http://identifiers.org/snomedct/190021001 property_value: closeMatch http://identifiers.org/snomedct/89796001 property_value: exactMatch DOID:3664 property_value: exactMatch DOID:3664 property_value: exactMatch http://identifiers.org/snomedct/414653009 property_value: exactMatch http://identifiers.org/snomedct/414653009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334664 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334664 property_value: exactMatch NCIT:C9295 property_value: exactMatch NCIT:C9295 created_by: paolaroncaglia creation_date: 2018-04-18T15:27:27Z [Term] id: EFO:0009001 name: Mastocytosis def: "A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival." [NCIT:C84269] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98292"} synonym: "MAST cell disease" RELATED [OMIM:154800] synonym: "Mast cell disease" EXACT [NCIT:C84269] synonym: "mast cell hyperplasia" EXACT [DOID:350] synonym: "mast cell hyperplasia" EXACT [CSP2005:4006-0061, DOID:350] synonym: "mastocytosis" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "mastocytosis" EXACT [NCIT:C84269, OMIM:154800] synonym: "mastocytosis" EXACT [] {comment="preferred label from MONDO"} synonym: "urticaria pigmentosa" RELATED [OMIM:154800] xref: DOID:350 {source="MONDO:equivalentTo"} xref: GARD:0006987 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10:C96.2 {source="ORDO:98292/btnt", source="Orphanet:98292"} xref: ICD10:D47.0 {source="ORDO:98292/btnt", source="Orphanet:98292"} xref: ICD10:Q82.2 {source="MONDO:equivalentTo", source="ORDO:98292/btnt", source="DOID:350", source="Orphanet:98292"} xref: ICD10WHO:Q82.2 {source="MONDO:equivalentTo"} xref: MedDRA:10026891 {source="Orphanet:98292", source="Orphanet:98292/e"} xref: MedDRA:10026891 {source="ORDO:98292/e", source="Orphanet:98292"} xref: MESH:D008415 {source="MONDO:equivalentTo", source="DOID:350", source="Orphanet:98292", source="Orphanet:98292/e"} xref: MESH:D008415 {source="ORDO:98292/e", source="MONDO:equivalentTo", source="DOID:350", source="Orphanet:98292"} xref: MONDO:0007950 xref: NCIT:C84269 {source="MONDO:equivalentTo", source="DOID:350"} xref: OMIM:154800 {source="ORDO:98292/e", source="MONDO:equivalentTo", source="DOID:350", source="Orphanet:98292"} xref: ONCOTREE:MCD {source="MONDO:equivalentTo"} xref: Orphanet:98292 {source="MONDO:equivalentTo", source="OMIM:154800"} xref: UMLS:C0024899 {source="ORDO:98292/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:350", source="Orphanet:98292", source="NCIT:C84269", source="OMIM:154800"} xref: UMLS:C0024899 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:350", source="Orphanet:98292", source="NCIT:C84269", source="OMIM:154800", source="Orphanet:98292/e"} is_a: EFO:0009000 {source="NCIT:C84269"} ! Mast Cell Neoplasm is_a: MONDO:0004805 {source="DOID:350"} ! leukocyte disorder is_a: MONDO:0019044 {source="Orphanet:98292"} ! tumor of hematopoietic and lymphoid tissues is_a: Orphanet:322126 ! Genetic tumor of hematopoietic and lymphoid tissues property_value: closeMatch http://identifiers.org/meddra/10026891 property_value: closeMatch http://identifiers.org/snomedct/125541005 property_value: closeMatch http://identifiers.org/snomedct/397007003 property_value: exactMatch DOID:350 property_value: exactMatch DOID:350 property_value: exactMatch http://identifiers.org/meddra/10026891 property_value: exactMatch http://identifiers.org/mesh/D008415 property_value: exactMatch http://identifiers.org/mesh/D008415 property_value: exactMatch http://identifiers.org/omim/154800 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024899 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024899 property_value: exactMatch https://icd.who.int/browse10/2019/en#/Q82.2 property_value: exactMatch NCIT:C84269 property_value: exactMatch NCIT:C84269 property_value: exactMatch Orphanet:98292 property_value: gwas:trait "true" xsd:boolean created_by: paolaroncaglia creation_date: 2018-04-18T15:35:48Z [Term] id: EFO:0009002 name: splenic disease def: "A disease involving the spleen." [https://orcid.org/0000-0002-6601-2165] synonym: "disease of spleen" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of spleen" EXACT [] synonym: "diseases of spleen" EXACT [] synonym: "disorder of spleen" EXACT [MONDO:patterns/location_top] synonym: "Dyssplenism" EXACT [DOID:2529] synonym: "spleen disease" EXACT [DOID:2529, MONDO:patterns/location] synonym: "spleen disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "spleen diseases" EXACT [] synonym: "spleen disorder" EXACT [NCIT:C35823] synonym: "splenic disease" EXACT [] synonym: "splenic disorder" EXACT [] {comment="preferred label from MONDO"} xref: DOID:2529 {source="MONDO:equivalentTo"} xref: ICD10:D73 xref: ICD10CM:D73 {source="MONDO:equivalentTo", source="DOID:2529"} xref: ICD9:289.50 {source="DOID:2529"} xref: MESH:D013158 {source="MONDO:equivalentTo", source="DOID:2529"} xref: MeSH:D013158 xref: MONDO:0002332 xref: NCIT:C35823 {source="MONDO:equivalentTo", source="DOID:2529"} xref: SCTID:51244008 {source="MONDO:equivalentTo", source="DOID:2529"} xref: UMLS:C0037997 {source="MONDO:equivalentTo", source="DOID:2529"} is_a: EFO:0000405 ! digestive system disease is_a: EFO:0005803 ! hematologic disease is_a: EFO:0007352 {source="DOID:2529", source="EFO:0009002", source="MESH:D013158"} ! lymphatic system disease property_value: exactMatch DOID:2529 property_value: exactMatch http://identifiers.org/mesh/D013158 property_value: exactMatch http://identifiers.org/snomedct/51244008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037997 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D73 property_value: exactMatch NCIT:C35823 property_value: gwas:trait "true" xsd:boolean created_by: paolaroncaglia creation_date: 2018-04-19T08:36:15Z [Term] id: EFO:0009003 name: ovarian dysfunction def: "The inability of the ovaries to function." [NCIT:C113351] def: "The inability of the ovaries to function. [ NCI ]" [] synonym: "ovarian dysfunction" EXACT [] {comment="preferred label from MONDO"} synonym: "ovarian failure" EXACT [NCIT:C113351] synonym: "ovarian hypofunction" EXACT [NCIT:C113351] synonym: "ovarian insufficiency" EXACT [NCIT:C113351] xref: DOID:1414 {source="MONDO:equivalentTo"} xref: ICD10:E28 xref: ICD10CM:E28 {source="MONDO:equivalentTo"} xref: ICD9:256.3 {source="DOID:1414"} xref: ICD9:256.39 {source="DOID:1414"} xref: ICD9:256.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:256.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10033141 xref: MedDRA:10033142 xref: MedDRA:10033143 xref: MONDO:0001889 xref: NCIT:C113351 {source="MONDO:equivalentTo"} xref: SCTID:37102008 {source="MONDO:equivalentTo"} is_a: EFO:0005771 {source="DOID:1414", source="EFO:0009003", source="NCIT:C113351/inferred"} ! ovarian disease property_value: exactMatch DOID:1414 property_value: exactMatch http://identifiers.org/snomedct/37102008 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E28 property_value: exactMatch NCIT:C113351 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009004 name: hyperestrogenism def: "Abnormally high level of estrogen. [ NICHD NCI ]" [] synonym: "Estrogen excess" EXACT [] xref: DOID:14336 xref: MedDRA:10020624 is_a: EFO:0009003 ! ovarian dysfunction property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009005 name: premature menopause def: "Cessation of menstruation before the age of 40. Symptoms include hot flashes, night sweats, mood swings, and decreased sex drive." [NCIT:C80099] def: "The loss of normal function of the ovaries before age 40." [] synonym: "early menopause" EXACT [NCIT:C80099] synonym: "Menopause - premature" EXACT [] synonym: "menopause - premature" EXACT [DOID:10787] synonym: "Menopause praecox" EXACT [] synonym: "menopause praecox" EXACT [DOID:10787] synonym: "POF" EXACT ABBREVIATION [NCIT:C80099] synonym: "premature menopause" EXACT [] {comment="preferred label from MONDO"} synonym: "premature menopause" EXACT [NCIT:C80099] synonym: "premature ovarian failure" EXACT [NCIT:C80099] xref: DOID:10787 {source="MONDO:equivalentTo"} xref: ICD9:256.31 {source="DOID:10787"} xref: ICD9:256.39 xref: MedDRA:10014045 xref: MedDRA:10036601 xref: MESH:D008594 {source="DOID:10787", source="MONDO:equivalentTo"} xref: MONDO:0001119 xref: NCIT:C80099 {source="DOID:10787", source="MONDO:equivalentTo"} xref: SCTID:237788002 {source="MONDO:equivalentTo"} xref: UMLS:C0025322 {source="DOID:10787", source="MONDO:equivalentTo", source="NCIT:C80099"} xref: Wikipedia:Premature_ovarian_failure is_a: EFO:0004266 ! primary ovarian insufficiency is_a: EFO:0009003 {source="DOID:10787", source="NCIT:C80099"} ! ovarian dysfunction property_value: exactMatch DOID:10787 property_value: exactMatch http://identifiers.org/mesh/D008594 property_value: exactMatch http://identifiers.org/snomedct/237788002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025322 property_value: exactMatch NCIT:C80099 property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009006 name: hyperandrogenism def: "Excessive secretion of androgens from the adrenal glands or gonads. Clinical manifestations may include virilization. [ NICHD NCI ]" [] synonym: "Androgen Excess" EXACT [] xref: MedDRA:10065597 xref: NCIt:C113215 xref: UMLS:C0206081 is_a: EFO:0009003 ! ovarian dysfunction property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009007 name: Adrenal Hyperandrogenism def: "Excessive secretion of the androgen hormones dehydroepiandrosterone (DHEA), DHEA sulfate, and androstenedione, from the adrenal gland. Clinical manifestations may include virilization. [ NICHD NCI ]" [] synonym: "Adrenal Androgen Excess" EXACT [] xref: NCIt:C113209 xref: UMLS:C3831597 is_a: EFO:0009006 ! hyperandrogenism property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009008 name: Ovarian Hyperandrogenism def: "Increased production of androgens by the ovaries. [ NCI ]" [] xref: NCIt:C120146 xref: UMLS:C3897086 is_a: EFO:0009006 ! hyperandrogenism property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009009 name: Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome def: "A pyogenic autoinflammatory syndrome with skin involvement." [] synonym: "PASH" EXACT [] synonym: "PASH (pyoderma gangrenosum, acne and suppurative hidradenitis) syndrome" EXACT [] synonym: "PASH syndrome" EXACT [] synonym: "pyoderma gangrenosum, acne and suppurative hidradenitis" EXACT [] synonym: "pyoderma gangrenosum, acne and suppurative hidradenitis (PASH) syndrome" EXACT [] synonym: "pyoderma gangrenosum, acne and suppurative hidradenitis syndrome" EXACT [] xref: MONDO:0017332 xref: Orphanet:289478 is_a: EFO:0000701 ! skin disease created_by: paolaroncaglia creation_date: 2018-04-26T09:34:44Z [Term] id: EFO:0009010 name: HSV2 virologic severity measurement def: "Quantification of the severity of Herpes simplex virus-2 infection, typically by assessment of viral shedding" [] synonym: "Herpes simplex virus-2 virologic severity measurement | HSV-2 virologic severity measurement" EXACT [] xref: PMID:29535370 is_a: EFO:0006843 ! infectious disease biomarker relationship: IAO:0000136 EFO:0007282 ! is_about genital herpes property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009011 name: Arteritis def: "An inflammatory process affecting an artery." [NCIT:C34399] def: "An inflammatory process affecting an artery. [ NCI ]" [] synonym: "arterial Inflammation" RELATED [MESH:D001167] synonym: "Arteritides" RELATED [MESH:D001167] synonym: "arteritis" EXACT [NCIT:C34399] synonym: "arteritis" EXACT [] {comment="preferred label from MONDO"} synonym: "artery inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "inflammation of artery" EXACT [] synonym: "Inflammation, arterial" RELATED [MESH:D001167] xref: HP:0012089 {source="MONDO:otherHierarchy"} xref: ICD9:447.6 xref: MedDRA:10003230 xref: MedDRA:10003235 xref: MESH:D001167 {source="MONDO:equivalentTo"} xref: MeSH:D001167 xref: MONDO:0043494 xref: NCIT:C34399 {source="MONDO:equivalentTo"} xref: NCIt:C34399 xref: SCTID:52089001 {source="MONDO:equivalentTo"} xref: UMLS:C0003860 is_a: EFO:0006803 {source="EFO:0009011", source="MESH:D001167", source="MONDO:Redundant", source="NCIT:C34399"} ! vasculitis is_a: MONDO:0000473 {source="MONDO:Redundant", source="NCIT:C34399"} ! arterial disorder property_value: exactMatch http://identifiers.org/mesh/D001167 property_value: exactMatch http://identifiers.org/snomedct/52089001 property_value: exactMatch NCIT:C34399 property_value: gwas:trait "true" xsd:boolean created_by: paolaroncaglia creation_date: 2018-05-03T09:02:39Z [Term] id: EFO:0009012 name: Polyarteritis Nodosa def: "A necrotizing vasculitis that affects medium-sized arteries, it is usually idiopathic, and may be triggered by viral infections (Hepatitis B, also others). A multisystem disease, it most commonly affects skin (nodules, livedo reticularis) and peripheral nerves; higher morbidity is associated with gastrointestinal, central nervous system, cardiac, and/or other organ involvement. Anti-neutrophil cytoplasmic antibodies (ANCA) are typically negative. [ NCI ]" [] synonym: "Classic Polyarteritis Nodosa" EXACT [] synonym: "Classical Polyarteritis Nodosa" EXACT [] synonym: "PAN" EXACT [] synonym: "Panarteritis Nodosa" EXACT [] synonym: "Periarteritis Nodosa" EXACT [] synonym: "Polyarteritis Nodosa" EXACT [] xref: DOID:9810 xref: ICD10:M30 xref: ICD10:M30.0 xref: MedDRA:10036024 xref: MeSH:D010488 xref: MONDO:0019170 xref: NCIt:C26847 xref: ORDO:767 xref: UMLS:C0031036 is_a: EFO:0009011 ! Arteritis created_by: paolaroncaglia creation_date: 2018-05-03T09:09:23Z [Term] id: EFO:0009013 name: in vitro transcription def: "Biomolecule synthesis of RNA in vitro used for applications such as can be used in blot hybridizations and nuclease protection assays." [] synonym: "IVT" EXACT [] xref: ERO:0000905 is_a: EFO:0009107 ! nucleic acid amplification [Term] id: EFO:0009014 name: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia def: "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13." [] synonym: "3-methylglutaconic aciduria type 7" EXACT [] synonym: "3-methylglutaconic aciduria type VII" EXACT [] synonym: "MEGCANN" EXACT [] synonym: "MGA7" EXACT [] synonym: "MGCA7" EXACT [] xref: DOID:0110003 is_a: MONDO:0017359 ! 3-methylglutaconic aciduria property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009015 name: AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome def: "A syndome related to the AHDC1 gene, presenting with intellectual disability, obstructive sleep apnea and mild dysmorphism." [] synonym: "Xia-Gibbs syndrome" EXACT [] xref: OMIM:615829 xref: Orphanet:412069 is_a: Orphanet:183757 ! Rare genetic intellectual disability property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009016 name: Ataxia-oculomotor apraxia type 4 def: "Ataxia-oculomotor apraxia-4 is an autosomal recessive neurologic disorder characterized by onset of dystonia and ataxia in the first decade. Additional features include oculomotor apraxia and peripheral neuropathy. Some patients may show cognitive impairment. The disorder is progressive, and most patients become wheelchair-bound in the second or third decade (summary by Bras et al., 2015)." [] synonym: "AOA4" EXACT [] xref: OMIM:616267 xref: Orphanet:459033 is_a: MONDO:0957003 ! hereditary neuro-ophthalmological disease is_a: Orphanet:183518 ! Rare hereditary ataxia is_a: Orphanet:98539 ! Early-onset ataxia with dementia is_a: Orphanet:98693 ! Spinocerebellar ataxia with oculomotor anomaly property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009017 name: Autosomal recessive spastic paraplegia type 57 def: "Autosomal recessive spastic paraplegia type 57 (SPG57) is an extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function." [] synonym: "Spastic paraplegia due to partial TFG deficiency" EXACT [] synonym: "SPG57" EXACT [] xref: OMIM:615658 xref: Orphanet:431329 is_a: Orphanet:320406 ! Spastic paraplegia-optic atrophy-neuropathy syndrome property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009018 name: Autosomal recessive spastic paraplegia type 75 def: "Spastic paraplegia-75 is an autosomal recessive, slowly progressive neurodegenerative disorder characterized by onset of spastic paraplegia and cognitive impairment in childhood (summary by Lossos et al., 2015)." [] synonym: "SPG75" EXACT [] xref: OMIM:616680 xref: Orphanet:459056 is_a: Orphanet:320406 ! Spastic paraplegia-optic atrophy-neuropathy syndrome property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009019 name: Autosomal recessive spastic paraplegia type 76 def: "Spastic paraplegia-76 is an autosomal recessive neurologic disorder characterized by young-adult onset of slowly progressive spasticity of the lower limbs resulting in gait difficulties. Most affected individuals have upper limb involvement and additional features such as foot deformities and dysarthria. Cognition is unaffected (summary by Gan-Or et al., 2016)." [] synonym: "SPG76" EXACT [] xref: OMIM:616907 xref: Orphanet:488594 is_a: Orphanet:320406 ! Spastic paraplegia-optic atrophy-neuropathy syndrome property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009020 name: Aymé-Gripp syndrome def: "Ayme-Gripp syndrome is a clinically homogeneous phenotype characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth (Niceta et al., 2015)." [] xref: OMIM:601088 xref: Orphanet:477668 is_a: Orphanet:183530 ! Rare genetic developmental defect during embryogenesis property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009021 name: Bardet-Biedl syndrome 1 def: "Bardet-Biedl syndrome 1 is caused by mutation in a gene on chromosome 11q13." [] xref: OMIM:209900 xref: Orphanet:118975 is_a: MONDO:0015229 ! Bardet-Biedl syndrome property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009022 name: Bardet-Biedl syndrome 10 def: "BBS10 is characterized by progressive retinal dystrophy, obesity, polydactyly, cognitive impairment, and renal dysplasia (Stoetzel et al., 2006). BBS10 represents a major locus for BBS, with mutations in the BBS10 gene accounting for approximately 20% of BBS patients (Stoetzel et al., 2006; Zaghloul and Katsanis, 2009)." [] xref: OMIM:615987 xref: Orphanet:118978 is_a: MONDO:0015229 ! Bardet-Biedl syndrome property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009023 name: Bardet-Biedl syndrome 12 def: "BBS12 is a clinically pleiotropic autosomal recessive ciliopathy." [] synonym: "FLJ35630" EXACT [] synonym: "FLJ41559" EXACT [] xref: OMIM:615989 xref: Orphanet:137646 is_a: MONDO:0015229 ! Bardet-Biedl syndrome property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009024 name: Bardet-Biedl syndrome 4 def: "BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS (Katsanis et al., 2002). Anosmia has been described in patients with BBS4 (Iannaccone et al., 2005), as well as polydactyly confined to the hands (Carmi et al., 1995)." [] xref: OMIM:615982 xref: Orphanet:118985 is_a: MONDO:0015229 ! Bardet-Biedl syndrome property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009025 name: Bardet-Biedl syndrome 5 def: "BBS5 is a ciliopathy associated with severe and early-onset retinal dystrophy, postaxial polydactyly, obesity, renal dysfunction, hypogonadism, and learning difficulties (summary by Scheidecker et al., 2015). Patients described by Young et al. (1999) and Moore et al. (2005) with mutations in the BBS5 gene did not have polydactyly. The contribution of BBS5 mutations to all cases of BBS has been estimated at 2% (Li et al., 2004) and 0.40% (Zaghloul and Katsanis, 2009)." [] xref: OMIM:615983 xref: Orphanet:118987 is_a: MONDO:0015229 ! Bardet-Biedl syndrome property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009026 name: Bardet-Biedl syndrome 7 def: "BBS7 is an autosomal recessive disorder characterized by retinitis pigmentosa, postaxial polydactyly, intellectual disability, obesity, renal anomalies, and hypogenitalism (Harville et al., 2010). Zaghloul and Katsanis (2009) estimated the contribution of BBS7 gene mutations to the total BBS mutational load to be 1.50%." [] xref: OMIM:615984 xref: Orphanet:118990 is_a: MONDO:0015229 ! Bardet-Biedl syndrome property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009027 name: Bardet-Biedl syndrome 9 def: "BBS9 is an autosomal recessive disorder characterized by obesity, polydactyly, renal anomalies, retinopathy, and intellectual disability (Abu-Safieh et al., 2012)." [] xref: OMIM:615986 xref: Orphanet:118994 is_a: MONDO:0015229 ! Bardet-Biedl syndrome property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009028 name: Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome def: "Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis." [Orphanet:2848] def: "The camptodactyly-arthropathy-coxa vara-pericarditis syndrome is an autosomal recessive condition characterized by the association of congenital or early-onset camptodactyly and noninflammatory arthropathy with synovial hyperplasia." [] subset: gard_rare subset: ordo_disease {source="Orphanet:2848"} synonym: "arthropathy camptodactyly syndrome" RELATED [GARD:0000306] synonym: "Arthropathy-camptodactyly syndrome" EXACT [] synonym: "arthropathy-camptodactyly syndrome" EXACT [DOID:0090127, Orphanet:2848] synonym: "CACP" EXACT ABBREVIATION [DOID:0090127, MONDO:Lexical, OMIM:208250] synonym: "CACP syndrome" EXACT [DOID:0090127, Orphanet:2848] synonym: "camptodactyly arthropathy coxa vara pericarditis syndrome" RELATED [GARD:0000306] synonym: "camptodactyly arthropathy pericarditis syndrome" RELATED [GARD:0000306] synonym: "camptodactyly-arthropathy-coxa vara-pericarditis syndrome" EXACT [GARD:0000306, MONDO:Lexical, OMIM:208250] synonym: "camptodactyly-arthropathy-coxa vara-pericarditis syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "camptodactyly-arthropathy-coxa-vara-pericarditis syndrome" RELATED [GARD:0000306] synonym: "camptodactyly-arthropathy-pericarditis syndrome" EXACT [DOID:0090127] synonym: "congenital familial hypertrophic synovitis" EXACT [DOID:0090127] synonym: "familial fibrosing serositis" EXACT [DOID:0090127] synonym: "fibrosing serositis, familial" RELATED [GARD:0000306, OMIM:208250] synonym: "hypertrophic synovitis, congenital familial" RELATED [OMIM:208250] synonym: "Jacobs syndrome" EXACT [DOID:0090127, Orphanet:2848] synonym: "PAC syndrome" EXACT [DOID:0090127, GARD:0000306, OMIM:208250] synonym: "pericarditis arthropathy camptodactyly syndrome" RELATED [GARD:0000306] synonym: "Pericarditis-arthropathy-camptodactyly syndrome" EXACT [] synonym: "pericarditis-arthropathy-camptodactyly syndrome" EXACT [DOID:0090127, GARD:0000306, OMIM:208250, Orphanet:2848] xref: DOID:0090127 {source="MONDO:equivalentTo"} xref: MedDRA:10083494 xref: MESH:C537560 {source="MONDO:equivalentTo"} xref: MONDO:0008828 xref: OMIM:208250 {source="Orphanet:2848/e", source="MONDO:equivalentTo", source="DOID:0090127", source="GARD:0000306", source="Orphanet:2848"} xref: Orphanet:2848 {source="MONDO:equivalentTo", source="DOID:0090127", source="GARD:0000306", source="OMIM:208250"} is_a: EFO:0005755 {source="Orphanet:2848"} ! rheumatic disease is_a: EFO:1000017 {source="DOID:0090127", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0023603 ! hereditary disorder of connective tissue is_a: Orphanet:271870 ! Rare genetic systemic or rheumatologic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015940", source="MONDO:0021198"} ! rare property_value: exactMatch DOID:0090127 property_value: exactMatch http://identifiers.org/mesh/C537560 property_value: exactMatch https://omim.org/entry/208250 property_value: exactMatch Orphanet:2848 property_value: IAO:0000117 "Hannah McLaren" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/306/camptodactyly-arthropathy-coxa-vara-pericarditis-syndrome xsd:anyURI {source="GARD:0000306"} [Term] id: EFO:0009029 name: Central precocious puberty def: "Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys)." [Orphanet:759] subset: ordo_disease {source="Orphanet:759"} synonym: "central precocious puberty" EXACT [] {comment="preferred label from MONDO"} synonym: "CPP" EXACT ABBREVIATION [Orphanet:759] synonym: "Gonadotropin-dependant precocious puberty" EXACT [] synonym: "gonadotropin-dependant precocious puberty" EXACT [Orphanet:759] synonym: "gonadotropin-dependent precocious puberty" EXACT [] synonym: "precocious puberty, central" EXACT [OMIMPS:176400] xref: DOID:0112308 {source="MONDO:equivalentTo"} xref: ICD9:259.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10073186 xref: MESH:C562787 {source="MONDO:equivalentTo"} xref: MONDO:0019165 xref: OMIMPS:176400 {source="MONDO:equivalentTo"} xref: Orphanet:759 {source="MONDO:equivalentTo"} xref: SCTID:237816004 {source="MONDO:equivalentTo"} xref: UMLS:C0342543 {source="MONDO:equivalentTo", source="Orphanet:759", source="Orphanet:759/e"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0009549 ! female reproductive system disease is_a: MONDO:0000088 {source="MESH:C562787", source="Orphanet:759"} ! precocious puberty property_value: exactMatch DOID:0112308 property_value: exactMatch http://identifiers.org/mesh/C562787 property_value: exactMatch http://identifiers.org/snomedct/237816004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342543 property_value: exactMatch https://omim.org/phenotypicSeries/PS176400 property_value: exactMatch Orphanet:759 property_value: excluded_subClassOf MONDO:0018561 {source="Orphanet:759", source="https://github.com/Orphanet/ORDO/issues/19"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009030 name: Cerebellar-facial-dental syndrome def: "Cerebellofaciodental syndrome is an autosomal recessive neurodevelopmental disorder characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia (summary by Borck et al., 2015)." [] synonym: "Cerebellofaciodental syndrome" EXACT [] xref: OMIM:616202 xref: Orphanet:444072 is_a: Orphanet:269567 ! Genetic syndrome with a cerebellar malformation as major feature property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009031 name: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome def: "A multiple congenital anomaly syndrome with delayed psychomotor development with intellectual disability, short stature, obesity, variable dysmorphic facial features (round face, proptosis, hypertelorism, thick eyebrows and hair, long eyelashes, short nose and downturned corners of the mouth), heart defects, increased chance of chronic lung disease, skeletal defects such as brachydactyly, gastroesophageal reflux." [] synonym: "CHOPS syndrome" EXACT [] xref: OMIM:616368 xref: Orphanet:444077 is_a: Orphanet:69028 ! Syndrome with brachydactyly property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009032 name: Combined oxidative phosphorylation defect type 21 def: "Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver." [] synonym: "COXPD21" EXACT [] xref: OMIM:615918 xref: Orphanet:420733 is_a: Orphanet:35696 ! Mitochondrial disorder due to a defect in mitochondrial protein synthesis property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009033 name: Combined oxidative phosphorylation defect type 23 def: "Combined oxidative phosphorylation defect type 23 is an autosomal recessive disorder characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Brain imaging shows abnormal lesions in the basal ganglia, thalamus, and brainstem. The severity of the disorder is variable, ranging from death in early infancy to survival into the second decade (summary by Kopajtich et al., 2014)." [] synonym: "COXPD23" EXACT [] xref: OMIM:616198 xref: Orphanet:444013 is_a: Orphanet:35696 ! Mitochondrial disorder due to a defect in mitochondrial protein synthesis property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009034 name: Combined oxidative phosphorylation defect type 24 def: "Combined oxidative phosphorylation defect type 24 is an autosomal recessive mitochondrial disorder with wide phenotypic variability. Some patients have a milder form affecting only skeletal muscle, whereas others may have a more severe infantile-onset neurodegenerative disorder (Vanlander et al., 2015; Sofou et al., 2015)." [] synonym: "COXPD24" EXACT [] xref: OMIM:616239 xref: Orphanet:444458 is_a: Orphanet:35696 ! Mitochondrial disorder due to a defect in mitochondrial protein synthesis property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009035 name: Combined oxidative phosphorylation defect type 25 def: "Combined oxidative phosphorylation defect type 25 is an autosomal recessive mitochondrial disorder with wide phenotypic variability." [] synonym: "COXPD25" EXACT [] xref: Orphanet:447954 is_a: Orphanet:35696 ! Mitochondrial disorder due to a defect in mitochondrial protein synthesis property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009036 name: Combined oxidative phosphorylation defect type 26 def: "A highly variable phenotype resulting from a defect in mitochondrial respiratory chain activity." [] synonym: "COXPD26" EXACT [] xref: OMIM:616539 xref: Orphanet:477684 is_a: Orphanet:35696 ! Mitochondrial disorder due to a defect in mitochondrial protein synthesis property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009037 name: Combined oxidative phosphorylation defect type 27 def: "A combined mitochondrial respiratory chain deficiency associated with epileptic encephalopathy and a complex movement disorder." [] synonym: "COXPD27" EXACT [] xref: OMIM:616672 xref: Orphanet:477774 is_a: Orphanet:35696 ! Mitochondrial disorder due to a defect in mitochondrial protein synthesis property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009038 name: Combined oxidative phosphorylation defect type 30 def: "A fatal systemic mitochondrial disease." [] synonym: "COXPD30" EXACT [] xref: OMIM:616974 xref: Orphanet:478042 is_a: Orphanet:35696 ! Mitochondrial disorder due to a defect in mitochondrial protein synthesis property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009039 name: Congenital bile acid synthesis defect def: "Congenital bile acid synthesis defects are rare metabolic disorders with defects in bile acid synthesis." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:485631"} synonym: "BASD" EXACT ABBREVIATION [Orphanet:485631] synonym: "bile acid synthesis defect, congenital" EXACT [OMIMPS:607765] synonym: "CBA" EXACT ABBREVIATION [DOID:0050674] synonym: "cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency" NARROW [DOID:0050674] synonym: "congenital bile acid synthesis defect" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0050674 {source="MONDO:equivalentTo"} xref: MONDO:0018841 xref: OMIMPS:607765 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:485631 {source="MONDO:equivalentTo"} xref: UMLS:CN239183 {source="MONDO:equivalentTo"} is_a: EFO:0005590 {source="DOID:0050674"} ! steroid inherited metabolic disorder is_a: Orphanet:163631 ! Bile acid synthesis defect with cholestasis and malabsorption property_value: exactMatch DOID:0050674 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239183 property_value: exactMatch https://omim.org/phenotypicSeries/PS607765 property_value: exactMatch Orphanet:485631 property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009040 name: Cranio-cervical dystonia with laryngeal and upper-limb involvement def: "An autosomal dominant form of focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs." [] synonym: "Dystonia 24" EXACT [] synonym: "DYT24" EXACT [] xref: OMIM:615035 xref: Orphanet:420485 is_a: Orphanet:391799 ! Rare genetic dystonia property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009041 name: Cushing syndrome due to macronodular adrenal hyperplasia def: "ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome (CS; see this term) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS (see this term)." [] xref: Orphanet:189427 is_a: EFO:0003099 ! Cushing syndrome property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009042 name: Estrogen resistance syndrome def: "Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present." [] xref: Orphanet:785 is_a: Orphanet:400011 ! Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009043 name: Familial porphyria cutanea tarda def: "An instance of porphyria cutanea tarda that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] def: "Porphyria cutanea tarda (PCT) is characterized by light-sensitive dermatitis and the excretion of large amounts of uroporphyrin in urine (Elder et al., 1980)." [] comment: Editor note: see notes on parent class PCT for discussion of classification into sporadic/familial subset: ordo_clinical_subtype {source="Orphanet:443062"} synonym: "familial porphyria cutanea tarda" EXACT [] {comment="preferred label from MONDO"} synonym: "hereditary porphyria cutanea tarda" EXACT [MONDO:patterns/hereditary] synonym: "PCT" RELATED ABBREVIATION [OMIM:176100] synonym: "PCT, 'familial' type" RELATED [OMIM:176100] synonym: "PCT, type 2" RELATED [OMIM:176100] synonym: "porphyria cutanea tarda" RELATED [OMIM:176100] synonym: "Porphyria cutanea tarda type II" EXACT [] synonym: "porphyria cutanea tarda type II" EXACT [Orphanet:443062] synonym: "porphyria cutanea tarda, susceptibility to" EXACT [OMIM:176100, OMIM:genemap2] synonym: "porphyria cutanea tarda, type 2" RELATED [OMIM:176100] synonym: "porphyria, Hepatocutaneous type" RELATED [OMIM:176100] synonym: "porphyria, hepatoerythropoietic" RELATED [OMIM:176100] synonym: "Urod deficiency" RELATED [OMIM:176100] synonym: "uroporphyrinogen decarboxylase deficiency" RELATED [OMIM:176100] xref: MONDO:0008296 xref: OMIM:176100 {source="Orphanet:443062/e", source="MONDO:equivalentTo", source="Orphanet:443062"} xref: Orphanet:443062 {source="MONDO:equivalentTo"} xref: Orphanet:95159 {source="OMIM:176100", source="MONDO:directSiblingOf"} xref: SCTID:59229005 {source="MONDO:equivalentTo"} xref: UMLS:C0162569 {source="OMIM:176100", source="MONDO:directSiblingOf"} xref: UMLS:C0268323 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015104 {source="MONDO:Redundant", source="Orphanet:443062"} ! porphyria cutanea tarda is_a: MONDO:0100498 ! UROD-related inherited porphyria is_a: Orphanet:183490 ! Genetic photodermatosis is_a: Orphanet:309813 ! Disorder of porphyrin and haem metabolism is_a: Orphanet:79387 ! Metabolic disease with skin involvement is_a: Orphanet:98056 ! Rare genetic renal disease is_a: Orphanet:98696 ! Genodermatosis with ocular features intersection_of: MONDO:0015104 ! porphyria cutanea tarda intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/snomedct/59229005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268323 property_value: exactMatch https://omim.org/entry/176100 property_value: exactMatch Orphanet:443062 property_value: IAO:0000117 "Hannah McLaren" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5128 xsd:anyURI [Term] id: EFO:0009044 name: Fanconi anemia complementation group A def: "Fanconi anemia complementation group A is a protein which in humans is encoded by the FANCA gene. It belongs to the Fanconi anaemia complementation group (FANC) family of genes of which 12 complementation groups are currently recognized and is hypothesised to operate as a post-replication repair or a cell cycle checkpoint. FANCA proteins are involved in inter-strand DNA cross-link repair and in the maintenance of normal chromosome stability that regulates the differentiation of haematopoietic stem cells into mature blood cells." [] synonym: "FA-H" EXACT [] synonym: "FAA" EXACT [] synonym: "FAH" EXACT [] xref: OMIM:227650 xref: Orphanet:121693 xref: Wikipedia:FANCA is_a: MONDO:0019391 ! Fanconi anemia property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009045 name: Fanconi anemia complementation group F def: "Fanconi anemia complementation group F is a protein encoded by the FANCF gene in humans." [] synonym: "FAF" EXACT [] xref: OMIM:603467 xref: Orphanet:121719 xref: Wikipedia:FANCF is_a: MONDO:0019391 ! Fanconi anemia property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009046 name: Fanconi anemia complementation group G def: "Fanconi anemia complementation group G is a protein encoded by the FANCG gene in humans." [] synonym: "DNA repair protein XRCC9" EXACT [] synonym: "FAG" EXACT [] synonym: "X-ray repair complementing defective repair in Chinese hamster cells 9" EXACT [] synonym: "X-ray repair, complementing defective, in Chinese hamster, 9" EXACT [] xref: OMIM:614082 xref: Orphanet:121722 xref: Wikipedia:FANCG is_a: MONDO:0019391 ! Fanconi anemia property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009047 name: obsolete_Hyperpigmentation of the skin def: "A darkening of the skin related to an increase in melanin production and deposition." [] xref: Orphanet:79375 xref: UMLS:C0162834 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.47.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Disease vs. Phenotype. Preference for disease which is modelled in Mondo.\nSee: https://github.com/EBISPOT/efo/issues/1772\nUse: http://purl.obolibrary.org/obo/MONDO_0019289" xsd:string property_value: IAO:0000117 "Hannah McLaren" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/MONDO_0019289 [Term] id: EFO:0009048 name: Intrahepatic cholestasis of pregnancy def: "Intrahepatic cholestasis of pregnancy (ICP) is a cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery." [] synonym: "Gravidic intrahepatic cholestasis" EXACT [] synonym: "Pregnancy-related cholestasis" EXACT [] synonym: "Recurrent intrahepatic cholestasis of pregnancy" EXACT [] xref: MeSH:C535932 xref: Orphanet:69665 is_a: MONDO:0015509 ! hereditary biliary tract disease is_a: Orphanet:101940 ! Rare metabolic liver disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009049 name: Juvenile nephropathic cystinosis def: "Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis (see this term), a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes." [] synonym: "Intermediate cystinosis" EXACT [] synonym: "Juvenile cystinosis" EXACT [] xref: OMIM:219900 xref: Orphanet:411634 xref: UMLS:C0268626 is_a: Orphanet:79207 ! Disorder of lysosomal amino acid transport is_a: Orphanet:98056 ! Rare genetic renal disease is_a: Orphanet:98666 ! Unclassified primitive or secondary maculopathy is_a: Orphanet:98711 ! Metabolic disease with corneal opacity is_a: Orphanet:98713 ! Metabolic disease with pigmentary retinitis property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009050 name: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome def: "A rare autosomal dominant syndromic intellectual disability syndrome characterized by macrocephaly, seizures, umbilical hernia, and facial dysmorphic features including frontal bossing, midface hypoplasia, small chin, hypertelorism with downslanting palpebral fissures, depressed nasal bridge, smooth philtrum, and thin upper lip (Smith et al., 2013; Baynam et al., 2015)." [] synonym: "MINDS syndrome" EXACT [] synonym: "Smith-Kingsmore syndrome" EXACT [] xref: OMIM:616638 xref: Orphanet:457485 is_a: Orphanet:183530 ! Rare genetic developmental defect during embryogenesis property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009051 name: Non-immune hydrops fetalis def: "A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens ." [] synonym: "NIHF" EXACT [] synonym: "Non-immune fetal edema" EXACT [] synonym: "Non-immune fetal hydrops" EXACT [] synonym: "Non-immune HF" EXACT [] xref: Orphanet:363999 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009052 name: Pleuropulmonary blastoma def: "A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients with pleuropulmonary blastoma, there are other lesions or neoplasms that may affect patients or their families, including lung or kidney cysts, and ovarian or testicular neoplasms. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas." [NCIT:C5669] def: "Pleuropulmonary blastoma (PPB) is a rare pediatric tumor of the lung that arises during fetal lung development and is often part of an inherited cancer syndrome (Hill et al., 2009). PPBs contain both epithelial and mesenchymal cells. Early in tumorigenesis, cysts form in lung airspaces, and these cysts are lined with benign-appearing epithelium." [] subset: clingen subset: ordo_disease {source="Orphanet:64742"} synonym: "childhood pulmonary blastoma" EXACT [MONDO:design_pattern] synonym: "paediatric pulmonary blastoma" EXACT OMO:0003005 [] synonym: "pediatric pulmonary blastoma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "pleuropulmonary blastoma" EXACT [] {comment="preferred label from MONDO"} synonym: "pleuropulmonary blastoma" EXACT [MONDO:Lexical, NCIT:C5669, OMIM:601200] synonym: "pleuropulmonary blastoma (morphologic abnormality)" EXACT [DOID:4769] synonym: "PPB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601200] synonym: "PPB familial tumor and dysplasia syndrome" RELATED [OMIM:601200] synonym: "PPB familial tumour and dysplasia syndrome" RELATED OMO:0003005 [] synonym: "pulmonary blastoma of childhood" EXACT [MONDO:patterns/childhood, NCIT:C5669] xref: DOID:4769 {source="MONDO:equivalentTo"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8973/3 {source="NCIT:C5669"} xref: MedDRA:10080682 xref: MESH:C537516 {source="Orphanet:64742", source="MONDO:equivalentTo", source="DOID:4769", source="Orphanet:64742/e"} xref: MeSH:C537516 xref: MONDO:0011014 xref: NCIT:C5669 {source="MONDO:equivalentTo", source="DOID:4769", source="MONDO:exact-label-match"} xref: OMIM:601200 {source="Orphanet:64742", source="MONDO:equivalentTo", source="DOID:4769", source="Orphanet:64742/e"} xref: ONCOTREE:PPB {source="MONDO:equivalentTo"} xref: Orphanet:64742 {source="OMIM:601200", source="MONDO:equivalentTo"} xref: SCTID:707670009 {source="MONDO:equivalentTo", source="DOID:4769"} xref: UMLS:C1266144 {source="Orphanet:64742", source="OMIM:601200", source="MONDO:equivalentTo", source="DOID:4769", source="Orphanet:64742/e", source="NCIT:C5669"} xref: UMLS:CN072455 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0007458 {source="DOID:4769", source="MESH:C537516", source="MONDO:Redundant"} ! pulmonary blastoma is_a: EFO:1000654 ! childhood cancer property_value: exactMatch DOID:4769 property_value: exactMatch http://identifiers.org/mesh/C537516 property_value: exactMatch http://identifiers.org/snomedct/707670009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266144 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN072455 property_value: exactMatch https://omim.org/entry/601200 property_value: exactMatch NCIT:C5669 property_value: exactMatch Orphanet:64742 property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009053 name: Primary progressive aphasia def: "Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA)." [Orphanet:95432] def: "Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD; see this term) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA) (see these terms)." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:95432"} synonym: "Mesulam syndrome" EXACT [Orphanet:95432] synonym: "PPA" EXACT ABBREVIATION [OMIM:607485, Orphanet:95432] synonym: "primary progressive aphasia" EXACT [] {comment="preferred label from MONDO"} synonym: "primary progressive aphasia syndrome" RELATED [GARD:0008541] xref: MedDRA:10081268 xref: MESH:D018888 {source="Orphanet:95432", source="MONDO:equivalentTo", source="Orphanet:95432/e"} xref: MeSH:D018888 xref: MONDO:0019806 xref: NCIT:C85024 {source="MONDO:equivalentTo"} xref: Orphanet:95432 {source="MONDO:equivalentTo"} xref: UMLS:C0282513 {source="Orphanet:95432", source="MONDO:equivalentTo", source="Orphanet:95432/e", source="NCIT:C85024"} is_a: EFO:0005772 {source="https://github.com/monarch-initiative/mondo/issues/1498", source="https://orcid.org/0000-0001-5208-3432"} ! neurodegenerative disease property_value: exactMatch http://identifiers.org/mesh/D018888 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0282513 property_value: exactMatch NCIT:C85024 property_value: exactMatch Orphanet:95432 property_value: IAO:0000117 "Hannah McLaren" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5507 xsd:anyURI [Term] id: EFO:0009054 name: Pulmonary arterial hypertension associated with congenital heart disease def: "Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH, see this term), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations (see this term) with left to right cardiac shunts. Eisenmenger syndrome (see this term) is the most advanced form of PAH-CHD and is defined as the complete or partial reversal of an initial left-to-right shunt to a right-to-left shunt, causing cyanosis and limited exercise capacity. PAH-CHD also includes mild to moderate systemic-to-pulmonary shunts with no cyanosis at rest, patients with small defects, and those with residual PAH following corrective cardiac surgery." [] synonym: "congenital heart disease-associated PAH" EXACT [] synonym: "PAH associated with congenital heart disease" EXACT [] xref: Orphanet:275803 is_a: EFO:0009193 ! Pulmonary arterial hypertension associated with another disease property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009055 name: RIDDLE syndrome def: "A syndrome of increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature." [] synonym: "Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome" EXACT [] synonym: "RNF168 deficiency" EXACT [] xref: OMIM:611943 xref: Orphanet:420741 xref: UMLS:C2677792 is_a: Orphanet:98097 ! Autosomal recessive cerebellar ataxia due to a DNA repair defect property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009056 name: Spinocerebellar ataxia type 38 def: "Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy." [] synonym: "SCA38" EXACT [] xref: OMIM:615957 xref: Orphanet:423296 is_a: Orphanet:94148 ! Autosomal dominant cerebellar ataxia type 3 property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009057 name: Spinocerebellar ataxia type 40 def: "Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis." [] synonym: "SCA40" EXACT [] synonym: "spinocerebellar ataxia 40" EXACT [] xref: OMIM:616053 xref: Orphanet:423275 is_a: Orphanet:94145 ! Autosomal dominant cerebellar ataxia type 1 property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009058 name: Spinocerebellar ataxia type 41 def: "Spinocerebellar ataxia is characterized by progressive imbalance and gait ataxia with mild atrophy of the cerebellar vermis." [] synonym: "SCA41" EXACT [] xref: OMIM:616410 xref: Orphanet:458798 is_a: Orphanet:94148 ! Autosomal dominant cerebellar ataxia type 3 property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009059 name: Spinocerebellar ataxia type 42 def: "Spinocerebellar ataxia-42 is an autosomal dominant neurologic disorder characterized predominantly by gait instability and additional cerebellar signs such as dysarthria, nystagmus, and saccadic pursuits. The age at onset and severity of the disorder is highly variable; it is slowly progressive (summary by Coutelier et al., 2015)." [] subset: ordo_disease {source="Orphanet:458803"} synonym: "SCA42" EXACT ABBREVIATION [OMIM:616795, Orphanet:458803] synonym: "spinocerebellar ataxia 42" EXACT [OMIM:616795] synonym: "spinocerebellar ataxia type 42" EXACT [] {comment="preferred label from MONDO"} synonym: "spinocerebellar ataxia type 42" EXACT [MONDORULE:2, OMIM:616795] xref: DOID:0111742 {source="MONDO:equivalentTo"} xref: MONDO:0014776 xref: NCIT:C171269 {source="MONDO:equivalentTo"} xref: OMIM:616795 {source="MONDO:equivalentTo", source="Orphanet:458803", source="Orphanet:458803/e"} xref: Orphanet:458803 {source="MONDO:equivalentTo"} xref: UMLS:C4225205 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019793 {source="EFO:0009059", source="Orphanet:458803"} ! autosomal dominant cerebellar ataxia type III is_a: Orphanet:94148 ! Autosomal dominant cerebellar ataxia type 3 property_value: exactMatch DOID:0111742 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225205 property_value: exactMatch https://omim.org/entry/616795 property_value: exactMatch NCIT:C171269 property_value: exactMatch Orphanet:458803 property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009060 name: Spinocerebellar ataxia type 43 def: "Spinocerebellar ataxia-43 is an autosomal dominant, slowly progressive neurologic disorder characterized by adult-onset gait and limb ataxia and often associated with peripheral neuropathy mainly affecting the motor system, although some patients may have distal sensory impairment (summary by Depondt et al., 2016)." [] synonym: "SCA43" EXACT [] xref: OMIM:617018 xref: Orphanet:497764 is_a: Orphanet:94145 ! Autosomal dominant cerebellar ataxia type 1 property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009061 name: TELO2-related intellectual disability-neurodevelopmental disorder def: "Disorder characterized by severely delayed global development, microcephaly, abnormal balance and movement." [] synonym: "You-Hoover-Fong syndrome" EXACT [] xref: OMIM:616954 xref: Orphanet:488642 is_a: Orphanet:183530 ! Rare genetic developmental defect during embryogenesis property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009062 name: Temple-Baraitser syndrome def: "Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients." [] synonym: "Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome" EXACT [] synonym: "TMBTS" EXACT [] xref: OMIM:611816 xref: Orphanet:420561 xref: UMLS:C2678486 is_a: Orphanet:183530 ! Rare genetic developmental defect during embryogenesis property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009063 name: Wolfram-like syndrome def: "Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings." [] xref: OMIM:614296 xref: Orphanet:411590 xref: UMLS:C3280358 is_a: EFO:0001379 ! endocrine system disease property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009064 name: X-linked erythropoietic protoporphyria def: "X-linked erythropoietic protoporphyria (XLEPP) is a metabolic disorder of heme biosynthesis characterized by onset in early childhood of severe photosensitivity associated with decreased iron stores and increased erythrocyte zinc- and metal-free protoporphyrin. Some patients may develop liver disease or gallstones (summary by Ducamp et al., 2013)." [] synonym: "X-linked dominant erythropoietic protoporphyria" EXACT [] synonym: "X-linked dominant protoporphyria" EXACT [] synonym: "XLDPP" EXACT [] synonym: "XLEPP" EXACT [] synonym: "XLP" EXACT [] synonym: "XLPP" EXACT [] xref: OMIM:300752 xref: Orphanet:443197 xref: UMLS:C2677889 is_a: Orphanet:183490 ! Genetic photodermatosis is_a: Orphanet:309813 ! Disorder of porphyrin and haem metabolism is_a: Orphanet:79387 ! Metabolic disease with skin involvement is_a: Orphanet:98056 ! Rare genetic renal disease property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009065 name: calcium oxalate urolithiasis def: "Urolithiasis in which the composition of the stones is predominantly calcium oxalate." [] xref: NCIt:C123242 xref: UMLS:C1833683 is_a: MONDO:0024647 ! urolithiasis property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009066 name: clcn4-related disorder def: "X-linked intellectual disability and epilepsy associated with variants in the CLCN4 gene." [] is_a: EFO:0000508 ! genetic disorder property_value: definition:citation https://www.ncbi.nlm.nih.gov/pubmed/27550844 xsd:string property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009067 name: combined partial 17-alpha-hydroxylase/17,20-lyase deficiency def: "Decreased or absent activity of the enzyme 17-alpha-hydroxylase/17,20 lyase due to loss-of-function mutation(s) in the CYP17A1 gene. The clinical manifestations of the deficiency are dependent on whether one or both activities of the enzyme are affected, and may include hypertension due to reduced 17-hydroxylase activity and incomplete genital masculinization in 46,XY infants due to reduced 17,20 lyase activity. [" [] synonym: "17-Alpha-Hydroxylase/17,20 Lyase Deficiency" EXACT [] xref: NCIt:C131086 is_a: EFO:0001379 ! endocrine system disease property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009068 name: dicer1 syndrome def: "A rare, autosomal dominant inherited syndrome caused by mutations in the DICER1 gene. People with this syndrome are at an increased risk of developing pleuropulmonary blastoma, cystic nephroma, Sertoli-Leydig cell tumor of the ovary, and multinodular goiter." [NCIT:C123317] comment: Reason: duplicate. This will be merged with MONDO:0100216 DICER1-related tumor predisposition subset: gard_rare subset: obsoletion_candidate subset: ordo_clinical_subtype {source="Orphanet:284343"} synonym: "DICER1 syndrome" EXACT [GARD:0010734, NCIT:C123317, Orphanet:284343] synonym: "DICER1 syndrome" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "DICER1 syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "DICER1-related pleuropulmonary blastoma" RELATED [GARD:0010734] synonym: "DICER1-related pleuropulmonary blastoma cancer predisposition syndrome" RELATED [GARD:0010734] synonym: "pleuro-pulmonary blastoma familial tumor susceptibility syndrome" EXACT [Orphanet:284343] synonym: "pleuro-pulmonary blastoma familial tumour susceptibility syndrome" EXACT OMO:0003005 [] synonym: "pleuropulmonary blastoma familial tumor susceptibility syndrome" EXACT [Orphanet:284343] synonym: "pleuropulmonary blastoma familial tumour susceptibility syndrome" EXACT OMO:0003005 [] synonym: "PPB familial tumor susceptibility syndrome" EXACT [Orphanet:284343] synonym: "PPB familial tumour susceptibility syndrome" EXACT OMO:0003005 [] synonym: "PPBFTDS" EXACT ABBREVIATION [Orphanet:284343] xref: DOID:0081063 {source="MONDO:equivalentTo"} xref: EFO:0009068 {source="MONDO:equivalentTo"} xref: GARD:0010734 {source="MONDO:equivalentTo"} xref: ICD9:199.1 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:199.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MONDO:0017288 xref: NCIT:C123317 {source="MONDO:equivalentTo"} xref: Orphanet:284343 {source="MONDO:equivalentTo"} xref: SCTID:702411003 {source="MONDO:equivalentTo"} xref: UMLS:C3839822 {source="MONDO:equivalentTo", source="NCIT:C123317"} xref: UMLS:CN202862 {source="MONDO:equivalentTo"} xref: UMLS:CN240512 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:cjm", source="NCIT:C123317/inferred"} ! syndromic disease relationship: disease_has_feature EFO:0009052 {source="Orphanet:284343"} ! Pleuropulmonary blastoma property_value: exactMatch DOID:0081063 property_value: exactMatch http://identifiers.org/snomedct/702411003 property_value: exactMatch http://identifiers.org/snomedct/702411003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3839822 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3839822 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202862 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202862 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN240512 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN240512 property_value: exactMatch NCIT:C123317 property_value: exactMatch NCIT:C123317 property_value: exactMatch Orphanet:284343 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6460 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10734/dicer1-related-pleuropulmonary-blastoma-cancer-predisposition-syndrome xsd:anyURI {source="GARD:0010734"} [Term] id: EFO:0009069 name: hepatic methionine adenosyltransferase deficiency def: "A metabolic disorder usually inherited in an autosomal recessive pattern and caused by mutations in the MAT1A gene. Affected individuals usually do not have clinical abnormalities." [] xref: NCIt:C123435 is_a: EFO:0000589 ! metabolic disease property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009070 name: intellectual developmental disorder with dysmorphic facies and ptosis def: "Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures (summary by Mattioli et al., 2017)." [] xref: OMIM:617333 is_a: EFO:0000508 ! genetic disorder property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009071 name: malignant hyperthermia, susceptibility to, 1 def: "Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997)." [] synonym: "Malignant Hyperthermia, Susceptibility To, type 1" EXACT [] xref: MONDO:0007783 xref: OMIM:145600 is_a: Orphanet:423 ! Malignant hyperthermia property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009072 name: mbd5 associated neurodevelopmental disorder def: "Neurodevelopmental disorder associated with the MBD5 gene." [] is_a: EFO:0000508 ! genetic disorder is_a: EFO:0000618 ! nervous system disease property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009073 name: methylmalonic aciduria (cobalamin deficiency) cblA type def: "An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein." [] synonym: "cblA" EXACT [] xref: Orphanet:123294 is_a: EFO:0000589 ! metabolic disease property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009074 name: methylmalonic aciduria cblb type def: "An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial." [] synonym: "Methylmalonic Aciduria, cblB Type" EXACT [] xref: NCIt:C142172 is_a: Orphanet:289899 ! Organic aciduria property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009075 name: neuropathy, hereditary motor and sensory, type vib def: "Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements, such as ataxia, dysmetria, and myoclonus. The most severely affected patients are hypotonic at birth and die in infancy (summary by Abrams et al., 2015 and Wan et al., 2016)." [] xref: OMIM:616505 is_a: MONDO:0015626 ! Charcot-Marie-Tooth disease is_a: MONDO:0024257 ! hereditary motor neuron disease is_a: Orphanet:71859 ! Rare genetic neurological disorder relationship: EFO:0000784 CL:0000100 ! has_disease_location motor neuron property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009076 name: nonsyndromic deafness def: "An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms." [] synonym: "nonsyndromic hearing loss" EXACT [] synonym: "nonsyndromic hereditary hearing loss" EXACT [] xref: DOID:0050563 xref: OMIM:400047 is_a: EFO:0001063 ! deafness property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009077 name: premature chromatid separation trait def: "Premature chromatid separation consists of separate and splayed chromatids with discernible centromeres and involves all or most chromosomes of a metaphase. It is found in up to 2% of metaphases in cultured lymphocytes from approximately 40% of normal individuals. When PCS is present in 5% or more of cells, it is known as the 'heterozygous PCS trait' and has no obvious phenotypic effect, although some have reported decreased fertility (Gabarron et al., 1986). Inheritance is autosomal codominant (Kajii and Ikeuchi, 2004)." [] xref: MONDO:0008304 xref: OMIM:176430 is_a: EFO:0000508 ! genetic disorder property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009078 name: stag1-related disorder def: "Disorder associated with the STAG1 gene." [] is_a: EFO:0000508 ! genetic disorder property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009079 name: white-sutton syndrome def: "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of POGZ on chromosome 1q21.3." [] synonym: "autosomal dominant intellectual disability 37" EXACT [] synonym: "MRD37" EXACT [] synonym: "WHSUS" EXACT [] xref: DOID:0070067 is_a: Orphanet:101685 ! Rare intellectual disability without developmental anomaly property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009080 name: x-linked ichthyosis with steryl-sulfatase deficiency def: "X-linked ichthyosis is clinically characterized by widespread, dark brown, polygonal scales and generalized dryness. Cutaneous manifestations are present soon after birth and usually do not improve with age. The histopathology of XLI typically shows compact hyperkeratosis and slight acanthosis with a normal granular layer (summary by Takeichi and Akiyama, 2016)." [] xref: OMIM:308100 is_a: Orphanet:68346 ! Rare genetic skin disease property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009081 name: Heterotaxia def: "Heterotaxia (coming from the Greek 'heteros' meaning different and 'taxis' meaning arrangement) is the right/left transposition of thoracic and/or abdominal organs. It encompasses a wide variety of disorders since there are multiple possibilities of right/left reversals, which may be complete (situs inversus totalis or situs inversus i.e. all the organs normally found on the right are on the left and vice versa) or partial (incomplete situs inversus i.e. a limited number of organs are inversed - or situs inversus ambiguous i.e. a normally lateral organ is centrally located)." [] synonym: "Heterotaxy syndrome" EXACT [] synonym: "Lateralization defect" EXACT [] synonym: "Visceral heterotaxy" EXACT [] xref: MedDRA:10067265 xref: Orphanet:450 xref: UMLS:C3178805 is_a: HP:0001507 ! Growth abnormality property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009082 name: Pilomatrixoma def: "Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome (see these terms)." [] def: "Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome." [Orphanet:91414] subset: gard_rare {source="GARD:0009452"} subset: ordo_malformation_syndrome {source="Orphanet:91414"} synonym: "benign hair follicle neoplasm" NARROW [NCIT:C7368] synonym: "benign pilomatricoma" NARROW [DOID:5374] synonym: "benign pilomatrixoma" NARROW [NCIT:C7368] synonym: "calcifying epithelioma of Malherbe" RELATED [GARD:0009452] synonym: "calcifying Epitherlioma of Malherbe" EXACT [NCIT:C7368] synonym: "Epithelioma calcificans of Malherbe" EXACT [] synonym: "epithelioma calcificans of Malherbe" EXACT [OMIM:132600, Orphanet:91414] synonym: "Pilomatricoma" EXACT [] synonym: "pilomatricoma" EXACT [DOID:5374, NCIT:C7368, OMIM:132600, Orphanet:91414] synonym: "pilomatricoma, somatic" EXACT [OMIM:132600, OMIM:genemap2] synonym: "pilomatrixoma" EXACT [OMIM:132600] synonym: "pilomatrixoma" EXACT [] {comment="preferred label from MONDO"} synonym: "pilomatrixoma, benign" EXACT [NCIT:C7368] synonym: "PTR" RELATED ABBREVIATION [GARD:0009452] xref: DOID:5374 {source="MONDO:equivalentTo"} xref: ICDO:8110/0 {source="NCIT:C7368"} xref: MedDRA:10035040 {source="Orphanet:91414/e", source="Orphanet:91414"} xref: MESH:D018296 {source="Orphanet:91414/e", source="MONDO:equivalentTo", source="Orphanet:91414", source="DOID:5374"} xref: MeSH:D018296 xref: MONDO:0007564 xref: NCIT:C7368 {source="MONDO:equivalentTo", source="DOID:5374"} xref: OMIM:132600 {source="Orphanet:91414/e", source="MONDO:equivalentTo", source="Orphanet:91414", source="DOID:5374"} xref: Orphanet:91414 {source="MONDO:equivalentTo", source="OMIM:132600"} xref: SCTID:274901004 {source="MONDO:equivalentTo", source="DOID:5374"} xref: UMLS:C0206711 {source="Orphanet:91414/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C7368", source="Orphanet:91414", source="OMIM:132600", source="DOID:5374"} xref: UMLS:C0853031 {source="MONDO:equivalentTo"} is_a: MONDO:0003413 {source="DOID:5374", source="NCIT:C7368/inferred"} ! hair follicle neoplasm property_value: closeMatch http://identifiers.org/meddra/10035040 property_value: exactMatch DOID:5374 property_value: exactMatch http://identifiers.org/mesh/D018296 property_value: exactMatch http://identifiers.org/snomedct/274901004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206711 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0853031 property_value: exactMatch https://omim.org/entry/132600 property_value: exactMatch NCIT:C7368 property_value: exactMatch Orphanet:91414 property_value: excluded_subClassOf MONDO:0019300 {source="Orphanet:91414"} property_value: IAO:0000117 "Hannah McLaren" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9452/pilomatrixoma xsd:anyURI {source="GARD:0009452"} [Term] id: EFO:0009083 name: absent or delayed speech development def: "Speech development, referring to the process of making sounds, that is absent or significantly behind developmental milestones." [] is_a: HP:0000707 ! Abnormality of the nervous system property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009084 name: Endarteritis def: "Inflammation of the arterial intima. [ NCI ]" [] xref: MedDRA:10014650 xref: MeSH:D004692 xref: NCIt:C34581 xref: UMLS:C0014100 is_a: EFO:0009011 ! Arteritis created_by: paolaroncaglia creation_date: 2018-05-10T09:24:26Z [Term] id: EFO:0009085 name: arterial occlusive disease def: "Pathological processes which result in the partial or complete obstruction of ARTERIES. They are characterized by greatly reduced or absence of blood flow through these vessels. They are also known as arterial insufficiency. [ MeSH ]" [] synonym: "Arterial Insufficiency" EXACT [] synonym: "occlusive arterial disease" EXACT [] xref: MedDRA:10062599 xref: MeSH:D001157 xref: NCIt:C127821 xref: UMLS:C0003834 is_a: EFO:0004264 ! vascular disease created_by: paolaroncaglia creation_date: 2018-05-10T11:13:13Z [Term] id: EFO:0009086 name: arteriosclerosis def: "A vascular disorder characterized by thickening and hardening of the walls of the arteries. [ NCI ]" [] synonym: "Arterial Sclerosis" EXACT [] synonym: "Vascular Sclerosis" EXACT [] xref: DOID:2349 xref: MedDRA:10003210 xref: MeSH:D001161 xref: MONDO:0002277 xref: NCIt:C34398 xref: UMLS:C0003850 is_a: EFO:0009085 ! arterial occlusive disease created_by: paolaroncaglia creation_date: 2018-05-10T11:16:40Z [Term] id: EFO:0009087 name: non-typhoidal Salmonella bacteremia def: "The presence of Salmonella bacteria (of the non-typhoidal type) in the blood." [] synonym: "non-typhoidal Salmonella bacteraemia" EXACT [] synonym: "nontyphoidal Salmonella bacteraemia" EXACT [] synonym: "nontyphoidal Salmonella bacteremia" EXACT [] xref: MONDO:0017944 is_a: EFO:0003033 ! bacteriemia is_a: EFO:0010283 ! blood disease is_a: MONDO:0000827 ! salmonellosis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009088 name: dissociation protocol def: "Describes the procedure by which a biological specimen is dissociated into individual cells or a cell suspension" [] is_a: OBI:0000272 ! protocol property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009089 name: enrichment protocol def: "Describes the procedure by which the concentration of an entity of interest in a sample is increased." [] is_a: OBI:0000272 ! protocol property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009090 name: enrichment process def: "An experimental process which results in the increased concentration of an entity of interest." [] is_a: EFO:0002694 ! experimental process property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009091 name: sample dissociation def: "process which results in the separation of a biological specimen into individual cells or a cell suspension" [] is_a: EFO:0002694 ! experimental process property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009092 name: breast milk measurement def: "A measurement of some aspect of breast milk." [] xref: PMID:29514873 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 UBERON:0000310 ! is_about breast property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009093 name: choroidal melanoma def: "Malignant tumor of melanocytes of the choroid. The classic appearance of choroidal melanoma is a pigmented dome-shaped or collar button-shaped tumor with an associated exudative retinal detachment. Choroidal melanoma is usually pigmented, but can be variably pigmented and even amelanotic (non-pigmented)." [] comment: HP:0012054 is_a: EFO:1000616 ! Uveal Melanoma property_value: definition:citation HP:0012054 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009094 name: idiopathic dilated cardiomyopathy def: "Decreased function of the heart associated with cardiac enlargement and congestive heart failure, of unknown cause." [] is_a: EFO:0000407 ! dilated cardiomyopathy property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009095 name: psychological measurement def: "A measurement of some aspect of human psychology." [] is_a: EFO:0004464 ! brain measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009096 name: negative domain measurement def: "A measurement of some aspect of psychological negative valence systems e.g. those responsible for responses to aversive situations or context, such as fear, anxiety and loss" [] is_a: EFO:0009095 ! psychological measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009097 name: positive domain measurement def: "A measurement of some aspect of psychological positive valence systems e.g. those responsible for responses to positive motivational situations or contexts, such as reward seeking, consummatory behavior, and reward/habit learning. Based on the NIH NIMH's research domain criteria (RDoC). https://www.nimh.nih.gov/research-priorities/rdoc/definitions-of-the-rdoc-domains-and-constructs.shtml" [] is_a: EFO:0009095 ! psychological measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009098 name: cognitive domain measurement def: "A measurement of some aspect of cognitive systems e.g. those responsible for various cognitive processes. Based on the NIH NIMH's research domain criteria (RDoC). https://www.nimh.nih.gov/research-priorities/rdoc/definitions-of-the-rdoc-domains-and-constructs.shtml" [] is_a: EFO:0009095 ! psychological measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009099 name: arousal domain measurement def: "A measurement of some aspect of psychological arousal/regulatory systems e.g. those responsible for generating activation of neural systems as appropriate for various contexts, and providing appropriate homeostatic regulation of such systems as energy balance and sleep. Based on the NIH NIMH's research domain criteria (RDoC). https://www.nimh.nih.gov/research-priorities/rdoc/definitions-of-the-rdoc-domains-and-constructs.shtml" [] is_a: EFO:0009095 ! psychological measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:000910 name: obsolete_number of children ever born measurement property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.6.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Accidental mis-copy of URI.\n\nUse: http://www.ebi.ac.uk/efo/EFO_0009102" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0009102 [Term] id: EFO:0009100 name: social domain measurement def: "A measurement of some aspect of psychological systems for social processes e.g. those that mediate responses in interpersonal settings of various types, including perception and interpretation of others’ actions. Based on the NIH NIMH's research domain criteria (RDoC). https://www.nimh.nih.gov/research-priorities/rdoc/definitions-of-the-rdoc-domains-and-constructs.shtml" [] is_a: EFO:0009095 ! psychological measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009101 name: age at first birth measurement def: "A measurement of the age at which a woman gave birth to her first live child" [] is_a: EFO:0007862 ! reproductive behaviour measurement relationship: IAO:0000136 UBERON:0000474 ! is_about female reproductive system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0009102 name: number of children ever born measurement def: "A measurement of the number of children born" [] is_a: EFO:0007862 ! reproductive behaviour measurement relationship: IAO:0000136 UBERON:0000474 ! is_about female reproductive system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0009103 name: theory of mind measurement def: "Quantification of theory of mind ability, defined as the ability to attribute mental states to one self and others and to use such mental state attribution to make sense of behaviour and predict it. Theory of mind can be quantified using the Emotional Triangles Task test (\"Triangles task\")." [] xref: PMID:29472613 is_a: EFO:0009095 ! psychological measurement relationship: IAO:0000136 EFO:0004323 ! is_about mental process property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009104 name: hyperuricemia def: "An abnormally high level of uric acid." [] xref: HP:0002149 xref: MedDRA:10020907 is_a: Orphanet:79191 ! Disorder of purine metabolism property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009105 name: high altitude adaptation def: "Evolutionary modification in certain human populations who have acquired the ability to survive at extremely high altitudes. This adaptation means irreversible, long-term physiological responses to high-altitude environments, associated with heritable behavioural and genetic changes." [] is_a: GO:0008150 ! biological_process property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Jackie MacArthur" xsd:string [Term] id: EFO:0009106 name: sample enrichment def: "process which results in the increased concentration of an entity of interest, such as a particle or cell, in a sample" [] is_a: EFO:0009090 ! enrichment process property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009107 name: nucleic acid amplification is_a: EFO:0002694 ! experimental process [Term] id: EFO:0009108 name: fluorescence-activated cell sorting def: "A flow cytometry assay that provides a method for sorting a heterogeneous mixture of biological cells into two or more containers, one cell at a time, based upon the specific light scattering and fluorescent characteristics of each cell.\nThe cells are suspended in a stream of fluid and forced individually through a vibrating nozzle, then exposed to a laser beam and the resulting fluorescence and scattered light is detected. Finally the cells are sorted by applying an electrical charge to droplets of the fluid and deflecting it to the left or right using charged electrodes." [] synonym: "FAC sorting" EXACT [] synonym: "FACS" EXACT [] xref: ERO:0000720 xref: NCIt:C17353 is_a: OBI:0000512 ! isolation of cell population property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009109 name: magnetic affinity cell sorting def: "A method of cell sorting that uses paramagnetic beads that are coated with antibodies, antigens, receptors, receptor substrates, binding proteins, etc to separate target cells from solution." [] synonym: "MAC sorting" EXACT [] synonym: "MACS" EXACT [] xref: NCIt:C116641 is_a: EFO:0009106 ! sample enrichment property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009110 name: Ficoll-Hypaque method def: "A centrifugation procedure that utilizes a density-gradient medium to separate mononuclear and polymorphonuclear leukocytes from other formed elements in the blood." [] synonym: "Ficoll gradient" EXACT [] synonym: "Ficoll WBC Isolation" EXACT [] xref: NCIt:C129690 is_a: EFO:0009112 ! density gradient centrifugation property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009111 name: laser capture microdissection def: "Laser capture microdissection is a technique used for isolating specific cells of interest from microscopic regions of tissue/cells/organisms.\nIt allows sampling of specific cells under direct microscopic visualization. A film is placed against the heterogeneous tissue and activated by a laser beam to capture only the cells of interest. Those cells are transferred to the film to provide a visual microscopic record of what was transferred, which can be analyzed for DNA, RNA, or protein. The film upon which the cells are transferred is incorporated into the cap of a vial so that, when the transfer is done under a routine microscopic visualization, the microdissected material can immediately be put into a vial for processing. The system is integrated into a microscope so that the cells are microdissected, transferred to the cap, and then rotated into a vial by a rotating arm in a hands-off operation. (from Cancer Genome Anatomy Project (CGAP) Update) [ NCI ]" [] synonym: "laser-assisted microdissection" EXACT [] synonym: "LCM" EXACT [] synonym: "LMD" EXACT [] xref: ERO:0001242 xref: NCIt:C19263 is_a: OBI:0000512 ! isolation of cell population property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009112 name: density gradient centrifugation def: "A method of separating cells in a sample by either their differential rate of sedimentation in a centrifugal gradient or their differential buoyancy in a density gradient." [] synonym: "cell separation by density gradient centrifugation" EXACT [] synonym: "density gradient" EXACT [] xref: NCIt:C112934 is_a: EFO:0009106 ! sample enrichment property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009113 name: alcohol exposure measurement def: "Quantification of some aspect of alcohol exposure." [] xref: PMID:29535761 is_a: EFO:0008360 ! environmental exposure measurement relationship: IAO:0000136 EFO:0004329 ! is_about alcohol drinking property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009114 name: in utero exposure measurement def: "Quantification of some aspect of the exposure of a fetus to an agent while in the womb." [] xref: PMID:29535761 is_a: EFO:0008360 ! environmental exposure measurement relationship: IAO:0000136 UBERON:0000474 ! is_about female reproductive system property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009115 name: tobacco smoke exposure measurement def: "Quantification of some aspect of tobacco smoke exposure." [] xref: PMID:29535761 is_a: EFO:0005671 ! smoking behaviour measurement is_a: EFO:0008360 ! environmental exposure measurement relationship: IAO:0000136 EFO:0004318 ! is_about smoking behavior property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009116 name: vitamin supplement exposure measurement def: "Quantification of some aspect of the consumption of dietry vitamin supplements." [] synonym: "vitamin use exposure measurement" EXACT [] xref: PMID:29535761 is_a: EFO:0600066 ! nutritional supplement exposure measurement relationship: IAO:0000136 GO:0033273 ! is_about response to vitamin property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009117 name: typhus def: "A gram-negative bacterial infection caused by Rickettsia prowazekii. It is spread by lice infected with the bacteria. Signs and symptoms include sudden headache, generalized muscle pain, malaise, and macular skin lesions. The infection may affect the central nervous system causing encephalitis." [] def: "A group of infectious diseases that include epidemic typhus, scrub typhus and murine typhus." [Wikipedia:Typhus] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:102023"} synonym: "classical typhus" RELATED [DOID:11256] synonym: "classical typhus (fever)" RELATED [DOID:11256] synonym: "endemic flea-borne typhus" EXACT [] synonym: "endemic flea-borne typhus" NARROW [DOID:11256] synonym: "Endemic Typhus fever" EXACT [] synonym: "endemic typhus fever" NARROW [DOID:11256] synonym: "epidemic (louse-borne) typhus" RELATED [DOID:11256] synonym: "epidemic louse-borne typhus" EXACT [] synonym: "epidemic louse-borne typhus" NARROW [DOID:11256] synonym: "epidemic louse-borne typhus fever due to Rickettsia prowazekii" RELATED [DOID:11256] synonym: "European typhus" RELATED [DOID:11256] synonym: "Exanthematic Typhus fever" EXACT [] synonym: "exanthematic typhus fever" NARROW [DOID:11256] synonym: "exanthematous typhus" RELATED [DOID:11256] synonym: "famine fever" RELATED [DOID:11256] synonym: "Flea typhus" EXACT [] synonym: "flea typhus" NARROW [DOID:11256] synonym: "flea-borne rickettsiosis" RELATED [DOID:11256] synonym: "flea-borne typhus" RELATED [DOID:11256] synonym: "gaol fever" RELATED OMO:0003005 [] synonym: "hospital fever" RELATED [DOID:11256] synonym: "jail fever" RELATED [DOID:11256] synonym: "Louse-borne [epidemic] typhus" EXACT [] synonym: "louse-borne [epidemic] typhus" NARROW [DOID:11256, ICD9CM:080] synonym: "louse-borne rickettsiosis" RELATED [DOID:11256] synonym: "louse-borne typhus" RELATED [DOID:11256] synonym: "Mexican typhus" RELATED [DOID:11256] synonym: "Moscow typhus" RELATED [DOID:11256] synonym: "Murine [endemic] typhus" EXACT [] synonym: "murine [endemic] typhus" NARROW [DOID:11256, ICD9CM:081.0] synonym: "murine typhus" RELATED [DOID:11256] synonym: "petechial fever" RELATED [DOID:11256] synonym: "prison fever" RELATED [DOID:11256] synonym: "rat flea typhus" RELATED [DOID:11256] synonym: "ship fever" RELATED [DOID:11256] synonym: "shop typhus" RELATED [DOID:11256] synonym: "typhus" EXACT [] {comment="preferred label from MONDO"} synonym: "typhus exanthematique" RELATED [DOID:11256] synonym: "Typhus fever" EXACT [] synonym: "typhus fever" EXACT [DOID:11256] synonym: "typhus-group rickettsiae disease" EXACT [Orphanet:102023] synonym: "typhus-group rickettsiosis" EXACT [MONDO:0015156] synonym: "Urban typhus" RELATED [DOID:11256] xref: DOID:11256 {source="MONDO:equivalentTo"} xref: ICD10:A75 xref: ICD10:A75.0 xref: ICD10:A75.2 xref: ICD10:A75.9 xref: ICD9:080 {source="DOID:11256"} xref: ICD9:081.0 {source="DOID:11256"} xref: ICD9:081.9 {source="DOID:11256"} xref: MedDRA:10045278 xref: MedDRA:10061393 xref: MeSH:D014437 xref: MeSH:D014438 xref: MONDO:0001246 xref: Orphanet:102023 {source="MONDO:equivalentTo"} xref: SCTID:240613006 {source="MONDO:equivalentTo"} xref: UMLS:C0041471 {source="MONDO:equivalentTo", source="DOID:11256"} xref: UMLS:C0041472 {source="MONDO:equivalentTo", source="DOID:11256"} xref: UMLS:C0041473 is_a: EFO:1001128 ! Rickettsiaceae infectious disease is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease relationship: RO:0000057 NCBITaxon:782 ! has_participant Rickettsia prowazekii property_value: exactMatch DOID:11256 property_value: exactMatch http://identifiers.org/snomedct/240613006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041471 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041472 property_value: exactMatch Orphanet:102023 property_value: excluded_subClassOf MONDO:0000314 {source="DOID:11256"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009118 name: female reproductive endometrioid cancer def: "A benign, borderline, or malignant epithelial tumor of the female reproductive system characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells." [] synonym: "endometrioid neoplasm" EXACT [] synonym: "endometrioid tumor (morphologic abnormality)" EXACT [] xref: DOID:3001 xref: MONDO:0002480 xref: UMLS:C0474809 is_a: EFO:0009549 ! female reproductive system disease is_a: MONDO:0004992 ! cancer property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009119 name: precursor lymphoblastic lymphoma/leukemia def: "A neoplasm of immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage. Neoplasms involving the bone marrow and the peripheral blood are called precursor lymphoblastic leukemias or acute lymphoblastic leukemias. Neoplasms involving primarily lymph nodes or extranodal sites are called lymphoblastic lymphomas. -- 2003" [NCIT:P378] synonym: "precursor lymphoblastic leukemia/lymphoma" EXACT [NCIT:C7055] synonym: "precursor lymphoblastic lymphoma/leukemia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "precursor lymphoblastic lymphoma/leukemia" EXACT [] {comment="preferred label from MONDO"} synonym: "precursor lymphoblastic lymphoma/leukemia" EXACT [NCIT:C7055] synonym: "precursor lymphoid neoplasm" EXACT [NCIT:C7055] xref: DOID:5600 {source="MONDO:equivalentObsolete"} xref: DOID:5600 {source="MONDO:equivalentTo"} xref: EFO:0009119 {source="MONDO:equivalentTo"} xref: MONDO:0003538 xref: NCIT:C7055 {source="DOID:5600", source="MONDO:equivalentTo"} xref: UMLS:C1335469 {source="NCIT:C7055", source="DOID:5600", source="MONDO:equivalentTo"} is_a: EFO:0001642 {source="EFO:0009119/inferred", source="MONDO:Redundant", source="NCIT:C7055"} ! lymphoid neoplasm property_value: closeMatch http://identifiers.org/mesh/D054198 property_value: exactMatch DOID:5600 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335469 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335469 property_value: exactMatch NCIT:C7055 property_value: exactMatch NCIT:C7055 [Term] id: EFO:0009120 name: biopsy def: "The removal of tissue specimens or fluid from the living body for examination, for example by microscopy, performed to establish a diagnosis." [] xref: NCIt:C15189 is_a: OBI:0600005 ! collecting specimen from organism [Term] id: EFO:0009121 name: blood draw def: "extraction of a blood specimen from an organism" [] synonym: "blood harvesting" EXACT [] synonym: "blood specimen collection" EXACT [] xref: OBI:1110095 is_a: OBI:0600005 ! collecting specimen from organism property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009122 name: scraping def: "collection of a biological specimen by scraping epithelia with a sampling device such as a sterile scalpel" [] is_a: OBI:0600005 ! collecting specimen from organism property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009123 name: urine collection def: "collection of a urine specimen from an organism" [] is_a: OBI:0600005 ! collecting specimen from organism property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009124 name: organ extraction def: "collection of a whole organ from an organism" [] synonym: "organ harvesting" EXACT [] xref: OBI:1110046 is_a: OBI:0600005 ! collecting specimen from organism property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009125 name: bronchial brush biopsy def: "The use of a brush to obtain tissue samples from one or more bronchi." [] synonym: "bronchial brushing" EXACT [] xref: NCIt:C93016 is_a: EFO:0009120 ! biopsy [Term] id: EFO:0009126 name: leukapheresis def: "A procedure that collects white blood cells from the peripheral blood while returning the rest to the donor." [] synonym: "leukocytopheresis" EXACT [] synonym: "therapeutic leukopheresis" EXACT [] xref: NCIt:C15269 is_a: EFO:0009121 ! blood draw [Term] id: EFO:0009128 name: enzymatic dissociation def: "dissociation process which uses enzymes to separate the cells in a specimen" [] is_a: EFO:0009091 ! sample dissociation property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009129 name: mechanical dissociation def: "dissociation process which uses mechanical forces to separate the cells in a specimen" [] is_a: EFO:0009091 ! sample dissociation property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009130 name: clostridium difficile infection def: "Symptomatic infection due to the spore-forming bacterium clostridium difficile." [] synonym: "CDI" EXACT [] synonym: "clostridium difficile disease" EXACT [] xref: https://en.wikipedia.org/wiki/Clostridium_difficile_infection xref: MedDRA:10054236 is_a: EFO:0000771 ! bacterial disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0009131 name: response to polyunsaturated fatty acid supplementation def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a dietary polyunsaturated fatty acid supplement." [] is_a: GO:0050896 ! response to stimulus relationship: OBI:0000293 CHEBI:35366 ! has_input fatty acid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009132 name: cholesterol efflux capacity measurement def: "Quantification of cholesterol efflux capacity, a measure of HDL functionality that quantifies the ability of an individual’s HDL to extract cholesterol from cholesterol-loaded macrophages. Efflux capacity is considered to be a predictor of atherosclerotic burden." [] xref: PMID:29674289 is_a: EFO:0004503 ! hematological measurement is_a: EFO:0004529 ! lipid measurement is_a: EFO:0004732 ! lipoprotein measurement is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 CHEBI:47775 ! is_about high-density lipoprotein cholesterol relationship: IAO:0000136 EFO:0003914 ! is_about atherosclerosis relationship: IAO:0000136 EFO:0005879 ! is_about cholesterol homeostasis relationship: IAO:0000136 UBERON:0001969 ! is_about blood plasma property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009133 name: cholesteryl ester transfer protein measurement def: "Quantification of the amount of cholestryl ester transfer protein in a sample, typically serum." [] synonym: "CETP" EXACT [] synonym: "plasma lipid transfer protein measurement" EXACT [] xref: https://en.wikipedia.org/wiki/Cholesterylester_transfer_protein xref: PMID:29728394 is_a: EFO:0004503 ! hematological measurement is_a: EFO:0004529 ! lipid measurement is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 BTO:0000133 ! is_about blood serum relationship: IAO:0000136 CHEBI:17002 ! is_about cholesteryl ester relationship: IAO:0000136 EFO:0005879 ! is_about cholesterol homeostasis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009134 name: trimethyllysine measurement def: "Quantification of trimethyllysine (N6,N6,N6-trimethyl-L-lysine) in the blood." [] xref: https://pubchem.ncbi.nlm.nih.gov/compound/440120 is_a: EFO:0004503 ! hematological measurement is_a: EFO:0005664 ! blood metabolite measurement relationship: IAO:0000136 HP:0001626 ! is_about Abnormality of the cardiovascular system relationship: IAO:0000136 UBERON:0001969 ! is_about blood plasma property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0009135 name: leigh syndrome due to mitochondrial complex iv deficiency def: "Deficiency in the terminal enzyme of the respiratory chain, complex IV, causing the progressive neurodegenerative disorder, Leigh syndrome." [] is_a: MONDO:0009723 ! Leigh syndrome property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009136 name: heterotaxy, visceral, x-linked def: "X-linked, right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion , and is usually seen in males. Physical features include heart abnormalities such as dextrocardia , transposition of great vessels , ventricular septal defect , patent ductus arteriosus , pulmonic stenosis ; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia).Affected individualscan also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly , myelomeningocele , urological anomalies, widely spaced eyes (hypertelorism), cleft palate , and abnormalities of the sacral spine and anus. Heterotaxia with recurrent respiratory infections are called primary ciliary dyskinesia ." [] xref: MONDO:0010607 is_a: EFO:0009081 ! Heterotaxia property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009137 name: renal hypodysplasia/aplasia 3 def: "Renal hypodysplasia/aplasia 3 (RHDA3) is an autosomal dominant disorder characterized by abnormal kidney development beginning in utero. The phenotype is highly variable, even within families, and there is evidence for incomplete penetrance. Some affected individuals have bilateral renal agenesis, which is usually fatal in utero or in the perinatal period, whereas others may have unilateral agenesis that is compatible with life, or milder manifestations, such as vesicoureteral reflux (VUR). Female mutation carriers may also have uterine or ovarian abnormalities. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT; see 610805) (summary by Brophy et al., 2017 and Sanna-Cherchi et al., 2017)." [] synonym: "RHDA3" EXACT [] xref: OMIM:617805 is_a: HP:0000077 ! Abnormality of the kidney property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009138 name: laminin alpha 2-related dystrophy def: "Llaminin alpha 2-related dystrophy is a disorder that causes weakness and wasting (atrophy) of muscles used for movement (skeletal muscles). This condition generally appears in one of two ways: as a severe, early-onset type or a milder, late-onset form." [] synonym: "LAMA2-related muscular dystrophy" EXACT [] is_a: Orphanet:206634 ! Genetic skeletal muscle disease property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009139 name: glut1 deficiency syndrome 1, autosomal recessive def: "GLUT1 deficiency syndrome is a disorder affecting the nervous system that can have a variety of neurological signs and symptoms." [] synonym: "glucose transport defect, blood-brain barrier" EXACT [] is_a: Orphanet:71859 ! Rare genetic neurological disorder is_a: Orphanet:79161 ! Disorder of carbohydrate metabolism property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009140 name: metastatic pancreatic neuroendocrine tumours def: "Pancreatic neuroendocrine tumors with metastases to other sites in the body, such as the liver." [] is_a: EFO:0009709 ! metastatic neoplasm is_a: EFO:1000045 ! pancreatic neuroendocrine tumor property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009141 name: fgfr2 related craniosynostosis def: "Craniosynostosis associated with FGFR2 (Fibroblast Growth Factor Receptor 2) gene." [] synonym: "Fibroblast Growth Factor Receptor 2 related craniosynostosis" EXACT [] is_a: Orphanet:183524 ! Rare genetic bone disease is_a: Orphanet:183542 ! Genetic cranial malformation is_a: Orphanet:404584 ! Rare genetic bone development disorder property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009142 name: autosomal dominant dilated cardiomyopathy def: "Dilated cardiomyopathy, characterized by dilation and contractile dysfunction of the left and right ventricles, with an autosomal dominant pattern of inheritance." [] is_a: EFO:0000407 ! dilated cardiomyopathy property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009143 name: ryr1-related disorders def: "RYR-1-related diseases are conditions caused by changes (mutations) in the RYR-1 gene. RYR-1 mutations are typically associated with core myopathies and are the most common overall cause of congenital myopathy. [ https://rarediseases.org/rare-diseases/ryr-1-related-diseases/ ]" [] is_a: EFO:0000508 ! genetic disorder property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009144 name: Lethal neonatal spasticity-epileptic encephalopathy syndrome def: "An autosomal-recessive epileptic encephalopathy, which is characterized by drug-resistant seizures, and rigidity." [] synonym: "Lethal neonatal rigidity-multifocal seizure syndrome" EXACT [] xref: ICD10:G40.4 xref: MONDO:0013784 xref: OMIM:614498 xref: Orphanet:435845 xref: PMID:28752061 is_a: Orphanet:166472 ! Monogenic disease with epilepsy property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009145 name: limb-girdle muscular dystrophy-dystroglycanopathy, type c1 def: "An autosomal recessive limb-girdle muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is characterized by intellectual disability without structural brain abnormalities and limb-girdle muscular dystrophy." [] synonym: "MDDGC1" EXACT [] synonym: "Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 1" EXACT [] xref: NCIt:C133730 xref: UMLS:C1836373 is_a: Orphanet:206634 ! Genetic skeletal muscle disease property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009146 name: pik3ca related overgrowth spectrum def: "PIK3CA-related overgrowth spectrum (PROS) is a group of rare diseases associated with having parts of the body that grow too quickly (overgrowth). Specifically, people with these diseases have overgrowth of the brain and other parts of the body." [] synonym: "PROS" EXACT [] xref: MedDRA:10081236 is_a: Orphanet:183573 ! Genetic overgrowth/obesity syndrome property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009147 name: partial adenosine deaminase deficiency def: "Partial deficiency of the purine salvage enzyme adenosine deaminase." [] synonym: "partial ADA deficiency" EXACT [] is_a: Orphanet:101972 ! Combined T and B cell immunodeficiency property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009148 name: acth-independent macronodular adrenal hyperplasia 2 def: "ACTH-independent macronodular adrenal hyperplasia-2 is an autosomal dominant tumor susceptibility with syndromic incomplete penetrance, as a second hit to the ARMC5 gene is required to develop macronodular hyperplasia (Assie et al., 2013)." [] synonym: "AIMAH2" EXACT [] synonym: "primary macronodular adrenal hyperplasia" EXACT [] xref: MONDO:0014416 xref: OMIM:615954 xref: UMLS:C4014803 is_a: EFO:0009041 ! Cushing syndrome due to macronodular adrenal hyperplasia property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009149 name: muscular dystrophy, congenital, with cataracts and intellectual disability def: "A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13. [ url:https://www.ncbi.nlm.nih.gov/pubmed/28190459 ]" [] synonym: "MDCCAID" EXACT [] xref: DOID:0080197 xref: OMIM:617404 is_a: MONDO:0019052 ! inborn errors of metabolism is_a: Orphanet:370953 ! Congenital muscular dystrophy due to dystroglycanopathy is_a: Orphanet:371064 ! Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009150 name: cholestasis, intrahepatic, of pregnancy 3 def: "Intrahepatic cholestasis of pregnancy is a reversible form of cholestasis that occurs most often in the third trimester of pregnancy and recurs in 45 to 70% of subsequent pregnancies. Symptoms include pruritus, jaundice, increased serum bile salts, and abnormal liver enzymes, all of which resolve rapidly after delivery. However, the condition is associated with fetal complications, including placental insufficiency, premature labor, fetal distress, and intrauterine death. Women with ICP are also susceptible to oral contraceptive-induced cholestasis (OCIC). Ursodeoxycholic acid (UDCA) is an effective treatment for conditions caused by ABCB4 mutations (summary by Pasmant et al., 2012)." [] synonym: "Cholestasis, Intrahepatic, of Pregnancy type 3" EXACT [] xref: OMIM:614972 xref: UMLS:C3554241 is_a: MONDO:0015509 ! hereditary biliary tract disease is_a: Orphanet:101940 ! Rare metabolic liver disease property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009151 name: cone-rod dystrophy and hearing loss def: "Inherited ocular disorder, characterised by the loss of cone cells, and hearing loss." [] synonym: "CRDHL" EXACT [] xref: MONDO:0014980 xref: OMIM:617236 xref: OMIM:618358 xref: OMIMPS:617236 xref: UMLS:C4310657 is_a: EFO:0000508 ! genetic disorder property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009152 name: intellectual disability, autosomal dominant 52 def: "Grozeva et al. (2014) reported 7 unrelated boys with moderate to severe intellectual disability. All showed delayed psychomotor development in infancy and poor speech development, but all were able to talk and communicate their needs. Five of the 7 had behavioral abnormalities, including obsessive-compulsive behavior, hand-flapping, and features of autism. Older children attended special schools or had educational support. Dysmorphic features were highly variable without a consistent pattern. However, features observed in 3 or more affected patients included synophrys or eyebrow anomalies, brachycephaly, low hairline, depressed nasal bridge, prominent high nasal root, tubular nose, upslanting palpebral fissures, long and smooth philtrum, micrognathia, thin upper lip, and crowded teeth. Several patients had chewing difficulties or dribbling. Variable skeletal abnormalities, such as scoliosis, kyphosis, lordosis, and leg-length discrepancies were also reported. None had seizures, microcephaly, or growth retardation." [] synonym: "autosomal dominant intellectual disability 52" RELATED [DOID:0080231] synonym: "autosomal dominant mental retardation 52" RELATED DEPRECATED [DOID:0080231] synonym: "intellectual disability, autosomal dominant 52" EXACT [] {comment="preferred label from MONDO"} synonym: "intellectual disability, autosomal dominant 52" EXACT [OMIM:617796] synonym: "mental retardation, autosomal dominant 52" RELATED DEPRECATED [OMIM:617796] synonym: "MRD52" EXACT [] synonym: "MRD52" RELATED DEPRECATED [OMIM:617796] xref: DOID:0080231 {source="MONDO:equivalentTo"} xref: MONDO:0014815 xref: MONDO:0030918 xref: OMIM:617796 {source="DOID:0080231", source="MONDO:equivalentTo"} xref: UMLS:C4225168 xref: UMLS:CN671932 {source="MONDO:equivalentTo"} is_a: MONDO:0015802 {source="DOID:0080231", source="OMIM:617796"} ! autosomal dominant non-syndromic intellectual disability is_a: Orphanet:101685 ! Rare intellectual disability without developmental anomaly property_value: exactMatch DOID:0080231 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN671932 property_value: exactMatch https://omim.org/entry/617796 property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009153 name: lymphedema, hereditary, iii def: "Hereditary lymphedema III is a form of generalized lymphatic dysplasia (GLD), which is characterized by a uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. In LMPH3, there is a high incidence of nonimmune hydrops fetalis (NIHF) with either death or complete resolution of the neonatal edema but childhood onset of lymphedema with or without systemic involvement. Mild facial edema is often present. Patients have normal intelligence and no seizures (summary by Fotiou et al., 2015)." [] synonym: "LMPH3" EXACT [] synonym: "Lymphedema, Hereditary, type III" EXACT [] xref: MONDO:0014797 xref: OMIM:616843 xref: UMLS:C4225184 is_a: EFO:0000701 ! skin disease property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009154 name: hemophilia b leyden def: "Hemophilia B Leyden is an X chromosome-linked bleeding disorder characterized by an altered developmental expression of blood coagulation factor IX. This form of hemophilia B has been found to be associated with a variety of single point mutations in the factor IX promoter region." [] xref: PMID:8324220 is_a: Orphanet:68334 ! Rare hemorrhagic disorder due to a constitutional coagulation factors defect property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009155 name: growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy def: "Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy (GRIDHH) is an autosomal recessive multisystem disorder characterized by intellectual disability, poor overall growth, hypotonia, and variable liver dysfunction. Additional features, such as seizures and hearing loss, may also be present (summary by Kopajtich et al., 2016)." [] synonym: "GRIDHH" EXACT [] xref: MONDO:0014911 xref: OMIM:617093 xref: UMLS:C4310720 is_a: EFO:0000508 ! genetic disorder property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009156 name: intellectual disability, autosomal dominant 48 def: "A highly variable phenotype with global developmental delay and moderate to severe intellectual disability; this can include poor or absent speech, delayed or impaired walking, poor feeding, hypotonia, seizures and behavioral problems, dysmorphic facial features and abnormal, but varied, brain imaging." [] synonym: "MRD48" EXACT [] xref: DOID:0080235 xref: OMIM:617751 is_a: Orphanet:101685 ! Rare intellectual disability without developmental anomaly property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009157 name: susceptibility to malaria def: "Susceptibility to the mosquito-borne hematoprotozoan parasites from the Plasmodium genus." [] xref: MONDO:0021024 xref: OMIM:611162 xref: UMLS:C1970028 is_a: EFO:0001068 ! malaria is_a: Orphanet:156601 ! Rare genetic hepatic disease property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009158 name: encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy def: "Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy (PEBEL) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions (summary by Kremer et al., 2016)." [] synonym: "PEBEL" EXACT [] xref: MONDO:0014960 xref: OMIM:617186 xref: OMIM:618321 xref: UMLS:C4310675 is_a: EFO:0000508 ! genetic disorder property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009159 name: combined oxidative phosphorylation deficiency 33 def: "combined oxidative phosphorylation deficiency 33 (COXPD33) is an autosomal recessive multisystem disorder resulting from a defect in mitochondrial energy metabolism. The phenotype is highly variable, ranging from death in infancy to adult-onset progressive external ophthalmoplegia (PEO) and myopathy. A common finding is cardiomyopathy and increased serum lactate (summary by Feichtinger et al., 2017)." [] synonym: "COXPD33" EXACT [] xref: OMIM:617713 is_a: Orphanet:35696 ! Mitochondrial disorder due to a defect in mitochondrial protein synthesis property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009160 name: stromme syndrome def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41." [] def: "An autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016)." [https://www.ncbi.nlm.nih.gov/gtr/conditions/C1855705/] subset: ordo_malformation_syndrome {source="Orphanet:444069"} synonym: "apple peel syndrome with microcephaly and ocular abnormalities" EXACT [] synonym: "apple peel syndrome with microcephaly and ocular anomalies" EXACT [DOID:0110595] synonym: "apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome" EXACT [Orphanet:506307] synonym: "CILD31" EXACT DEPRECATED [DOID:0110595, MONDO:Lexical, OMIM:616369] synonym: "ciliary dyskinesia, primary, 31" RELATED [MONDO:Lexical, OMIM:616369] synonym: "ciliary dyskinesia, primary, 31, formerly" RELATED DEPRECATED [OMIM:243605] synonym: "ciliary dyskinesia, primary, type 31" EXACT [MONDORULE:2, OMIM:616369] synonym: "jejunal atresia with microcephaly and ocular anomalies" EXACT [DOID:0110595, OMIM:243605] synonym: "jejunal atresia-microcephaly-ocular anomalies syndrome" EXACT [Orphanet:506307] synonym: "lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome" EXACT [DOID:0110595] synonym: "lethal foetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome" EXACT OMO:0003005 [] synonym: "primary ciliary dyskinesia 31" EXACT DEPRECATED [DOID:0110595] synonym: "Stromme syndrome" EXACT [OMIM:243605] synonym: "Stromme syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "STROMS" EXACT [] synonym: "STROMS" RELATED ABBREVIATION [OMIM:243605] xref: DOID:0110595 {source="MONDO:equivalentTo"} xref: ICD10:Q87.8 xref: MESH:C565460 {source="MONDO:equivalentTo"} xref: MeSH:C565460 xref: MONDO:0009477 xref: OMIM:243605 {source="Orphanet:444069", source="Orphanet:506307", source="Orphanet:444069/nd", source="MONDO:equivalentTo", source="DOID:0110595"} xref: OMIM:616369 {source="Orphanet:444069", source="MONDO:equivalentObsolete", source="Orphanet:444069/e"} xref: Orphanet:444069 {source="MONDO:equivalentTo"} xref: Orphanet:506307 {source="MONDO:equivalentTo"} xref: UMLS:C1855705 xref: UMLS:CN237682 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:506307"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015212 {source="Orphanet:506307"} ! syndromic intestinal malformation is_a: MONDO:0016575 {source="DC-OMIM:616369"} ! primary ciliary dyskinesia is_a: MONDO:0018731 {source="Orphanet:444069"} ! lethal multiple congenital anomalies/dysmorphic syndrome is_a: MONDO:0020145 {source="Orphanet:506307", source="Orphanet:506307/inferred"} ! developmental defect of the eye is_a: MONDO:0043009 {source="MONDO:Redundant", source="Orphanet:444069"} ! hereditary lethal multiple congenital anomalies/dysmorphic syndrome is_a: Orphanet:156610 ! Rare genetic respiratory disease is_a: Orphanet:399813 ! Male infertility due to sperm motility disorder is_a: Orphanet:71859 ! Rare genetic neurological disorder relationship: EFO:0000784 GO:0005929 ! has_disease_location cilium property_value: exactMatch DOID:0110595 property_value: exactMatch http://identifiers.org/mesh/C565460 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237682 property_value: exactMatch https://omim.org/entry/243605 property_value: exactMatch Orphanet:444069 property_value: exactMatch Orphanet:506307 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:506307"} property_value: IAO:0000117 "Hannah McLaren" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: EFO:0009161 name: debrisoquine, poor metabolism of def: "Poor metabolism of the guanidine derivative, Debrisoquine, which is frequently used to phenotype the drug metabolizing enzyme, CYP2D6." [] xref: Wikipedia:Debrisoquine is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009162 name: charcot-marie-tooth disease, axonal, type 2t def: "Charcot-Marie-Tooth disease type 2T (CMT2T) is a slowly progressive autosomal recessive sensorimotor peripheral neuropathy with onset in middle age (Higuchi et al., 2016)." [] synonym: "CMT2T" EXACT [] xref: DOID:0110160 xref: ICD10:G60.0 xref: MONDO:0014866 xref: OMIM:617017 xref: Orphanet:443950 xref: UMLS:C4015635 is_a: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2 property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009163 name: woolly hair, autosomal recessive 2, with or without hypotrichosis def: "Shimomura et al. (2009) studied 11 consanguineous Pakistani families with woolly hair and/or hypotrichosis in whom homozygosity for mutations in the LIPH gene were identified (see MOLECULAR GENETICS). The 11 families showed a wide variation in phenotype, ranging from woolly hair to sparse hair between families and even within a single family, although all affected individuals had slow hair growth that stopped at a few inches. The woolly hair of some individuals was light-colored compared to the dark brown/black hair typical in this population. Facial and body hair was normal in patients with woolly hair, whereas eyebrows, eyelashes, and body hair were sparse in the patients with hypotrichosis. Affected individuals from all 11 families had normal teeth, nails, and sweating, did not display palmoplantar hyperkeratosis, and had no family history of heart disease, cancers, or neurologic abnormalities." [] synonym: "ARWH2" EXACT [] xref: OMIM:604379 is_a: Orphanet:170 ! Woolly hair property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009164 name: intellectual disability, autosomal dominant 54 def: "Delayed psychomotor development and mild to severe intellectual disability. Common features include hypotonia, delayed walking, delayed speech, and behavioral abnormalities, including autistic features." [] synonym: "MRD54" EXACT [] xref: DOID:0080230 xref: OMIM:617799 is_a: Orphanet:101685 ! Rare intellectual disability without developmental anomaly property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009165 name: intellectual disability, autosomal dominant 53 def: "Delayed psychomotor development and mild to severe intellectual disability. Common features include hypotonia, delayed walking, delayed speech, and behavioral abnormalities, including autistic features." [] synonym: "autosomal dominant intellectual disability 53" RELATED [DOID:0080228] synonym: "autosomal dominant mental retardation 53" RELATED DEPRECATED [DOID:0080228] synonym: "intellectual disability, autosomal dominant 53" EXACT [] {comment="preferred label from MONDO"} synonym: "intellectual disability, autosomal dominant 53" EXACT [OMIM:617798] synonym: "mental retardation, autosomal dominant 53" RELATED DEPRECATED [OMIM:617798] synonym: "MRD53" EXACT [] synonym: "MRD53" RELATED DEPRECATED [OMIM:617798] xref: DOID:0080228 {source="MONDO:equivalentTo"} xref: MONDO:0030919 xref: OMIM:617798 {source="MONDO:equivalentTo", source="DOID:0080228"} is_a: MONDO:0015802 {source="DOID:0080228", source="OMIM:617798"} ! autosomal dominant non-syndromic intellectual disability is_a: Orphanet:101685 ! Rare intellectual disability without developmental anomaly property_value: exactMatch DOID:0080228 property_value: exactMatch https://omim.org/entry/617798 property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009166 name: response to ivacaftor - efficacy def: "The effectiveness of response to the drug, Ivacaftor, used to treat cystic fibrosis patients with mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene." [] synonym: "ivacaftor response - efficacy" EXACT [] synonym: "Kalydeco response" EXACT [] synonym: "response to Kalydeco" EXACT [] synonym: "response to VX-770" EXACT [] synonym: "VX-770 response" EXACT [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009167 name: response to warfarin def: "Response to the anticoagulant, Warfarin (trade name Coumadin)." [] synonym: "Coumadin response" EXACT [] synonym: "response to Coumadin" EXACT [] is_a: GO:0061476 ! response to anticoagulant property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009168 name: response to prednisolone def: "Response to the synthetic glucocorticoid with anti-inflammatory and immunomodulating properties, Prednisolone (11,17-Dihydroxy-17-(2-hydroxyacetyl)-10,13-dimethyl-6,7,8,9,10,11,12,13,14,15,16,17-dodecahydrocyclopenta[a] phenanthren-3-one)." [] synonym: "response to 11,17-Dihydroxy-17-(2-hydroxyacetyl)-10,13-dimethyl-6,7,8,9,10,11,12,13,14,15,16,17-dodecahydrocyclopenta[a] phenanthren-3-one" EXACT [] is_a: GO:0051384 ! response to glucocorticoid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009169 name: response to deoxygalactonojirimycin def: "Response to deoxygalactonojirimycin, also known as Migalastat, a drug used in the treatment of Fabry disease." [] synonym: "AT1001 response" EXACT [] synonym: "DDIG response" EXACT [] synonym: "Galafold response" EXACT [] synonym: "migalastat response" EXACT [] synonym: "response to AT1001" EXACT [] synonym: "response to DDIG" EXACT [] synonym: "response to Galafold" EXACT [] synonym: "response to migalastat" EXACT [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009170 name: response to tyrosine kinase inhibitor def: "Response to drug that inhibits tyrosine kinases." [] synonym: "response to TKI" EXACT [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009171 name: blood group--lutheran inhibitor def: "The Lutheran inhibitor blood group phenotype (In(Lu)) is characterized phenotypically by the apparent absence of the Lu antigen (BCAM) on red blood cells during serologic tests, i.e., Lu(a-b-). Phenotype results from a mutation in the transcription factor KLF1 that regulates expression of the BCAM gene." [] synonym: "dominant Lu(a-b-) phenotype" EXACT [] synonym: "In(Lu)" EXACT [] xref: OMIM:111150 xref: PMID:9642222 is_a: CHEBI:35222 ! inhibitor property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009172 name: thyroxine-binding globulin measurement def: "Is a quantification of thyroxine-binding globulin. Inherited abnormalities in the level of serum TBG have been classified as complete deficiency (TBG-CD), partial deficiency (TBG-PD), and excess (TBG-E). Patients are euthyroid (summary by Mori et al., 1995)." [] synonym: "TBGQTL" EXACT [] synonym: "thyroxine-binding globulin excess" EXACT [] synonym: "thyroxine-binding globulin QTL" EXACT [] synonym: "thyroxine-binding globulin quantitative trait" EXACT [] xref: OMIM:300932 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009173 name: Illumina NextSeq 500 def: "The Illumina NextSeq 500 is a benchtop high-throughput sequencing machine developed by Illumina." [] is_a: EFO:0002699 ! high throughput sequencer property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009175 name: response to synacthen def: "Any process that results in a change in state or activity of a cell or an organism as a result of a synacthen stimulus. Synacthen injection contains the active ingredient tetracosactide, a synthetic version of adrenocorticotrophic hormone (ACTH). It is typically used to test the function of the adrenal glands." [] synonym: "response to cosyntropin" EXACT [] synonym: "response to tetracosactide" EXACT [] is_a: GO:0009410 ! response to xenobiotic stimulus relationship: OBI:0000293 CHEBI:3901 ! has_input cosyntropin property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009176 name: adrenal suppression measurement def: "Quantification of the suppression of adrenal gland function, typically following stimulation with adrenocorticotrophic hormone or a synthetic equivalent. Adrenal suppression may occur as a result of primary hypoadrenalism, or secondary to a number of other conditions including tuberculosis, or chronic exposure to corticosteroids." [] xref: PMID:29551627 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0004730 ! hormone measurement relationship: IAO:0000136 CHEBI:17650 ! is_about cortisol relationship: IAO:0000136 CL:0000336 ! is_about adrenal medulla chromaffin cell property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009177 name: myopic maculopathy severity measurement def: "Quantification of the severity of myopic maculopathy" [] synonym: "myopic macular degeneration severity measurement" EXACT [] xref: PMID:29725004 is_a: EFO:0004731 ! eye measurement relationship: IAO:0000136 EFO:0009201 ! is_about myopic macular degeneration relationship: IAO:0000136 UBERON:0000970 ! is_about eye property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009178 name: neurofilament light chain measurement def: "Quantification of the levels of neurofilament light chain, typically in blood or cerebrospinal fluid. Used as a marker of neurodegeneration, in Alzheimer's disease, Amyotrophic Lateral Sclerosis, multiple sclerosis and Huntington's disease." [] synonym: "neurofilament light measurement" EXACT [] synonym: "NF-L measurement" EXACT [] synonym: "NFL measurement" EXACT [] xref: PMID:29747637 is_a: EFO:0006514 ! Alzheimer's disease biomarker measurement relationship: IAO:0000136 MONDO:0004975 ! is_about Alzheimer disease relationship: IAO:0000136 MONDO:0004976 ! is_about amyotrophic lateral sclerosis relationship: IAO:0000136 MONDO:0005301 ! is_about multiple sclerosis relationship: IAO:0000136 MONDO:0007739 ! is_about Huntington disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009179 name: beta-secretase 1 measurement def: "Quantification of the amount of beta-secretase 1 in a sample, typicallly cerebrospinal fluid. Beta-secretase-1 is an aspartic-acid protease important in the formation of myelin sheaths in peripheral nerve cells, and is thought to have a role in Alzheimer's disease pathogenesis." [] synonym: "ASP2" EXACT [] synonym: "aspartyl protease 2" EXACT [] synonym: "BACE1" EXACT [] synonym: "beta-site amyloid precursor protein cleaving enzyme 1" EXACT [] synonym: "beta-site APP cleaving enzyme 1" EXACT [] synonym: "memapsin-2" EXACT [] synonym: "membrane-associated aspartic protease 2" EXACT [] xref: PMID:29751835 xref: Wikipedia:Beta-secretase_1 is_a: EFO:0004464 ! brain measurement is_a: EFO:0006514 ! Alzheimer's disease biomarker measurement relationship: IAO:0000136 MONDO:0004975 ! is_about Alzheimer disease relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009180 name: rosacea severity measurement def: "Quantification of the severity of rosacea symptoms, based on a survey of facial, nose and ocular sympoms related to rosacea, a chronic inflammatory skin disease." [] xref: PMID:29771307 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 UBERON:0002097 ! is_about skin of body property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009181 name: growth differentiation factor 15 measurement def: "Quantification of growth differentiation factor 15 in a biological sample." [] synonym: "growth differentiation factor 15 levels" EXACT [] xref: PMID:29628937 is_a: EFO:0004503 ! hematological measurement relationship: IAO:0000136 UBERON:0001969 ! is_about blood plasma property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0009182 name: psychotic symptom measurement def: "Quantification of some aspect of psychotic symptoms, such as their existence and severity, usually via a standardised questionnaire or interview with a qualified mental health professional. The symptoms can include paranoia, hallucinations, anhedonia, cognitive disorganisation." [] xref: https://en.wikipedia.org/wiki/Psychosis xref: PMID:29603866 is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0005940 ! is_about psychotic symptoms property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0009183 name: empathy measurement def: "Quantification of some aspect of empathy, i.e. the ability to understand and share another person's experiences and emotions" [] xref: PMID:29527006 is_a: EFO:0007911 ! personality trait measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009184 name: heart rate response to exercise def: "Quantification of heart rate during exercise." [] xref: PMID:29769521 is_a: EFO:0004326 ! heart rate property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009185 name: heart rate response to recovery post exercise def: "Quantification of heart rate during a recovery period following exercise." [] synonym: "heart rate recovery post exercise" EXACT [] xref: PMID:29769521 is_a: EFO:0004326 ! heart rate property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009186 name: platelet larger cell ratio def: "Indicator of larger (> 12 fL) circulating platelets (percentage)." [] synonym: "P-LCR" EXACT [] synonym: "Platelet larger cell ratio" EXACT [] synonym: "platelet larger cell ratio (P-LCR)" EXACT [] is_a: EFO:0005036 ! platelet measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009187 name: immature platelet fraction def: "Percentage of immature platelets" [] synonym: "IPF" EXACT [] is_a: EFO:0005036 ! platelet measurement [Term] id: EFO:0009188 name: Red cell distribution width def: "Red blood cell distribution width (RDW or RDW-CV or RCDW and RDW-SD) is a measure of the range of variation of red blood cell (RBC) volume that is reported as part of a standard complete blood count. Usually red blood cells are a standard size of about 6-8 μm in diameter. Certain disorders, however, cause a significant variation in cell size. Higher RDW values indicate greater variation in size. Normal reference range of RDW-CV in human red blood cells is 11.5-14.5%.[1] If anemia is observed, RDW test results are often used together with mean corpuscular volume (MCV) results to determine the possible causes of the anemia. It is mainly used to differentiate an anemia of mixed causes from an anemia of a single cause." [] synonym: "Erythrocyte Distribution Width Measurement" EXACT [] synonym: "RCDW" EXACT [] synonym: "RDW" EXACT [] synonym: "RDW-CV" EXACT [] synonym: "RDW-SD" EXACT [] synonym: "Red blood cell erythrocyte distribution width" EXACT [] synonym: "Red cell distribution width (RDW) blood test" EXACT [] xref: MedDRA:10051168 xref: NCIt:C64800 xref: Wikipedia:Red_blood_cell_distribution_width is_a: EFO:0004509 ! hemoglobin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009189 name: hyperthyroidism def: "Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor." [NCIT:P378] def: "Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor. [ NCI ]" [] synonym: "hyperthyroidism" EXACT [] {comment="preferred label from MONDO"} synonym: "overactive thyroid" EXACT [DOID:7998, NCIT:C3123] xref: DOID:7998 {source="MONDO:equivalentTo"} xref: HP:0000836 xref: ICD10:E05 xref: ICD9:242.90 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10020850 xref: MESH:D006980 {source="DOID:7998", source="MONDO:equivalentTo"} xref: MONDO:0004425 xref: NCIT:C3123 {source="DOID:7998", source="MONDO:equivalentTo"} xref: NCIt:C3123 xref: SCTID:34486009 {source="DOID:7998", source="MONDO:equivalentTo"} is_a: EFO:1000627 {source="DOID:7998", source="EFO:0009189", source="MESH:D006980", source="NCIT:C3123/inferred"} ! thyroid disease property_value: exactMatch DOID:7998 property_value: exactMatch http://identifiers.org/mesh/D006980 property_value: exactMatch http://identifiers.org/snomedct/34486009 property_value: exactMatch NCIT:C3123 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009190 name: Thyrotoxicosis def: "A hypermetabolic syndrome caused by the elevation of thyroid hormone levels in the serum. Signs and symptoms include tachycardia, palpitations, tremor, weight loss, warm weather intolerance, and moist skin. Causes include Graves disease, toxic nodular goiter, toxic thyroid nodule, and lymphocytic thyroiditis." [NCIT:P378] def: "A hypermetabolic syndrome caused by the elevation of thyroid hormone levels in the serum. Signs and symptoms include tachycardia, palpitations, tremor, weight loss, warm weather intolerance, and moist skin. Causes include Graves disease, toxic nodular goiter, toxic thyroid nodule, and lymphocytic thyroiditis. [ NCI ]" [] subset: predisposition synonym: "Graves disease, susceptibility to, 1" RELATED [MONDO:Lexical, OMIM:275000] synonym: "GRD" RELATED ABBREVIATION [OMIM:275000] synonym: "GRD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:275000] synonym: "hyperthyroidism, autoimmune" RELATED [OMIM:275000] synonym: "thyrotoxicosis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:7997 {source="MONDO:equivalentTo"} xref: ICD9:242 {source="DOID:7997"} xref: ICD9:242.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:242.90 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10043789 xref: MESH:D013971 {source="DOID:7997", source="MONDO:equivalentTo"} xref: MONDO:0010138 xref: NCIT:C61469 {source="DOID:7997", source="MONDO:equivalentTo"} xref: NCIt:C61469 xref: SCTID:90739004 {source="DOID:7997", source="MONDO:equivalentTo"} xref: UMLS:C0040156 {source="DOID:7997", source="NCIT:C61469", source="MONDO:equivalentTo", source="OMIM:275000"} is_a: EFO:0004237 {source="DC-OMIM:275000"} ! Graves disease property_value: exactMatch DOID:7997 property_value: exactMatch http://identifiers.org/mesh/D013971 property_value: exactMatch http://identifiers.org/snomedct/90739004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040156 property_value: exactMatch NCIT:C61469 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009191 name: Toxic Nodular Goiter def: "Nodular enlargement of the thyroid gland associated with hyperthyroidism." [NCIT:P378] def: "Toxic nodular goiter (TNG) (or toxic multinodular goiter, or Plummer's disease) is a condition that can occur when a hyper-functioning nodule develops within a longstanding goiter. This results in hyperthyroidism, without the eye bulging effects seen in Grave's disease. These toxic nodular goiters are most common in women over the age of 60." [] synonym: "Plummer disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Plummer disease" EXACT [DOID:11277] synonym: "Plummer's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] synonym: "Toxic goiter" EXACT [NCIT:C35171] synonym: "Toxic goitre" EXACT OMO:0003005 [] synonym: "toxic nodular goiter" EXACT [DOID:11277, NCIT:C35171] synonym: "toxic nodular goitre" EXACT OMO:0003005 [] xref: DOID:11277 {source="MONDO:equivalentTo"} xref: ICD9:242.3 {source="DOID:11277"} xref: ICD9:242.30 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10044239 xref: MedDRA:10044240 xref: MedDRA:10044241 xref: MedDRA:10063526 xref: MONDO:0001252 xref: NCIT:C35171 {source="MONDO:equivalentTo", source="DOID:11277"} xref: SCTID:57777000 {source="MONDO:equivalentTo", source="DOID:11277"} xref: UMLS:C0342127 {source="MONDO:equivalentTo", source="DOID:11277"} xref: Wikipedia:Toxic_nodular_goiter is_a: EFO:0009189 {source="DOID:11277", source="EFO:0009191", source="NCIT:C35171"} ! hyperthyroidism is_a: EFO:1001062 ! nodular goiter property_value: exactMatch DOID:11277 property_value: exactMatch http://identifiers.org/snomedct/57777000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342127 property_value: exactMatch NCIT:C35171 [Term] id: EFO:0009192 name: Drug- or toxin-induced pulmonary arterial hypertension def: "Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal." [Orphanet:275786] def: "Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH, see this term) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:275786"} synonym: "Drug- or toxin-induced PAH" EXACT [] synonym: "drug- or toxin-induced PAH" EXACT [Orphanet:275786] synonym: "drug- or toxin-induced pulmonary arterial hypertension" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0017149 xref: Orphanet:275786 {source="MONDO:equivalentTo"} xref: UMLS:C0340544 {source="MONDO:equivalentTo", source="Orphanet:275786", source="Orphanet:275786/e"} is_a: EFO:0001361 {source="Orphanet:275786"} ! pulmonary arterial hypertension property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0340544 property_value: exactMatch Orphanet:275786 [Term] id: EFO:0009193 name: Pulmonary arterial hypertension associated with another disease def: "Pulmonary arterial hypertension associated with another disease is a group of conditions that lead to PAH (see this term); connective tissue diseases (lupus erythematosus, systemic sclerosis and mixed connective tissues disease), congenital heart disease (Eisenmenger syndrome), HIV infection, portal hypertension, schistosomiasis and chronic hemolytic anemia (see these terms),which is characterized by elevated pulmonary arterial resistance leading to right heart failure that is progressive and potentially fatal." [] synonym: "PAH associated with another disease" EXACT [] synonym: "Secondary PAH" EXACT [] synonym: "Secondary pulmonary arterial hypertension" EXACT [] is_a: EFO:0001361 ! pulmonary arterial hypertension property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009194 name: Pulmonary arterial hypertension associated with HIV infection def: "Pulmonary arterial hypertension (PAH, see this entry) associated with HIV infection (PAH-HIV) is a form of PAH characterized by elevated pulmonary arterial resistance leading to right heart failure observed as a complication of HIV infection." [] synonym: "HIV infection-associated PAH" EXACT [] synonym: "PAH associated with HIV infection" EXACT [] xref: ICD10:I27.2 xref: Orphanet:275808 is_a: EFO:0009193 ! Pulmonary arterial hypertension associated with another disease [Term] id: EFO:0009195 name: Pulmonary arterial hypertension associated with chronic hemolytic anemia def: "Pulmonary arterial hypertension associated with chronic hemolytic anemia (PAH-CHA) is a form of PAH (see this term) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of chronic hemolytic anemia." [] synonym: "chronic hemolytic anemia-associated PAH" EXACT [] synonym: "PAH associated with chronic hemolytic anemia" EXACT [] xref: ICD10:I27.2 xref: Orphanet:275828 is_a: EFO:0009193 ! Pulmonary arterial hypertension associated with another disease [Term] id: EFO:0009196 name: Pulmonary arterial hypertension associated with connective tissue disease def: "Pulmonary arterial hypertension (PAH, see this term) associated with connective tissue disease (PAH-CTD) is a form of pulmonary arterial hypertension (PAH, see this term) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of a connective tissue disease." [] synonym: "connective tissue disease-associated PAH" EXACT [] synonym: "PAH associated with connective tissue disease" EXACT [] xref: ICD10:I27.2 xref: Orphanet:275798 is_a: EFO:0009193 ! Pulmonary arterial hypertension associated with another disease [Term] id: EFO:0009197 name: Pulmonary arterial hypertension associated with portal hypertension def: "Pulmonary arterial hypertension associated with portal hypertension (PAH-PH) is a form of pulmonary arterial hypertension (PAH), characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of portal hypertension." [] synonym: "PAH associated with portal hypertension" EXACT [] synonym: "POPH" EXACT [] synonym: "portal hypertension-associated PAH" EXACT [] synonym: "Portopulmonary hypertension" EXACT [] xref: ICD10:I27.2 xref: Orphanet:275813 xref: UMLS:C1868851 is_a: EFO:0009193 ! Pulmonary arterial hypertension associated with another disease [Term] id: EFO:0009198 name: Pulmonary arterial hypertension associated with schistosomiasis def: "Pulmonary arterial hypertension associated with schistosomiasis (PAHS) is a form of pulmonary arterial hypertension (see this term) characterized by an elevated pulmonary arterial resistance leading to right heart failure, observed as a complication of a chronic schistosomiasis (see this term)." [] synonym: "PAH associated with schistosomiasis" EXACT [] synonym: "schistosomiasis-associated PAH" EXACT [] xref: ICD10:I27.2 xref: Orphanet:275823 is_a: EFO:0009193 ! Pulmonary arterial hypertension associated with another disease [Term] id: EFO:0009199 name: Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis def: "A rare subgroup of pulmonary arterial hypertension (PAH) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction." [https://orcid.org/0000-0001-5208-3432, Orphanet:431353] def: "Pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis (PVOD and/or PCH) constitutes a rare subgroup of pulmonary arterial hypertension (PAH; see this term) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:431353"} synonym: "pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis" EXACT [] {comment="preferred label from MONDO"} synonym: "PVOD and/or PCH" EXACT ABBREVIATION [Orphanet:431353] xref: MONDO:0018554 xref: Orphanet:431353 {source="MONDO:equivalentTo"} xref: UMLS:CN237555 {source="MONDO:equivalentTo"} is_a: EFO:0000684 {source="MONDO:Entailed", source="Orphanet:431353"} ! respiratory system disease is_a: EFO:0001361 {source="PMID:30545973"} ! pulmonary arterial hypertension property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237555 property_value: exactMatch Orphanet:431353 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5781 xsd:anyURI [Term] id: EFO:0009200 name: Eisenmenger syndrome def: "Eisenmenger syndrome (ES) is an form of pulmonary arterial hypertension (PAH) associated with unoperated congenital heart disease and is characterized by congenital heart malformations (see these terms) with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH." [] def: "Eisenmenger syndrome (ES) is an form of pulmonary arterial hypertension (PAH) associated with unoperated congenital heart disease and is characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH." [Orphanet:97214] subset: gard_rare {source="GARD:0006323"} subset: ordo_malformation_syndrome {source="Orphanet:97214"} synonym: "Eisenmenger syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Eisenmenger's Syndrome" EXACT [] synonym: "Eisenmenger's syndrome" EXACT [NCIT:C84390] synonym: "ES" EXACT [] xref: MedDRA:10058554 {source="Orphanet:97214", source="Orphanet:97214/e"} xref: MESH:D004541 {source="MONDO:equivalentTo"} xref: MONDO:0019944 xref: NCIT:C84390 {source="MONDO:equivalentTo"} xref: Orphanet:97214 {source="MONDO:equivalentTo"} xref: SCTID:445928005 {source="MONDO:equivalentTo"} xref: UMLS:C0013743 {source="Orphanet:97214", source="NCIT:C84390", source="MONDO:equivalentTo"} is_a: EFO:0009054 ! Pulmonary arterial hypertension associated with congenital heart disease is_a: MONDO:0002254 {source="NCIT:C84390"} ! syndromic disease property_value: closeMatch http://identifiers.org/meddra/10058554 property_value: exactMatch http://identifiers.org/mesh/D004541 property_value: exactMatch http://identifiers.org/snomedct/445928005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013743 property_value: exactMatch NCIT:C84390 property_value: exactMatch Orphanet:97214 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6323/eisenmenger-syndrome xsd:anyURI {source="GARD:0006323"} [Term] id: EFO:0009201 name: myopic macular degeneration subset: ordo_disease {source="Orphanet:178493"} synonym: "myopic macular degeneration" EXACT [] {comment="preferred label from MONDO"} synonym: "Myopic maculopathy" EXACT [] synonym: "myopic maculopathy" EXACT [Orphanet:178493] xref: ICD10CM:H35.3 {source="MONDO:relatedTo", source="Orphanet:178493/ntbt", source="Orphanet:178493"} xref: MedDRA:10082754 xref: MONDO:0015807 xref: ORDO:178493 xref: Orphanet:178493 {source="MONDO:equivalentTo"} xref: SCTID:312898002 {source="MONDO:equivalentTo"} xref: SNOMEDCT:312898002 xref: UMLS:C0730271 {source="Orphanet:178493/e", source="MONDO:equivalentTo", source="Orphanet:178493"} is_a: MONDO:0020238 {source="Orphanet:178493"} ! inherited vitreous-retinal disease property_value: exactMatch http://identifiers.org/snomedct/312898002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0730271 property_value: exactMatch Orphanet:178493 [Term] id: EFO:0009202 name: Reticulocyte Mean Corpuscular Hemoglobin Measurement def: "The determination of the mean amount of hemoglobin per reticulocyte present in a sample. [ NCI ]" [] synonym: "CHr" EXACT [] synonym: "High light scatter reticulocyte percentage" EXACT [] synonym: "Measurement of reticulocyte haemoglobin" EXACT [] synonym: "reticulocyte haemoglobin measurement" EXACT [] synonym: "reticulocyte hemoglobin content (CHr)" EXACT [] xref: NCIt:C117855 xref: UMLS:C3897698 is_a: EFO:0004509 ! hemoglobin measurement property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009203 name: Carboxyhemoglobin to Total Hemoglobin Ratio Measurement def: "The determination of the ratio of carboxyhemoglobin compared to total hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage. [ NCI ]" [] synonym: "Carboxyhemoglobin/Total Hemoglobin" EXACT [] synonym: "HBCOHGB" EXACT [] xref: NCIt:C147355 is_a: EFO:0004509 ! hemoglobin measurement property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009204 name: Corpuscular Hemoglobin Concentration Distribution Width def: "A measurement of the standard deviation of hemoglobin concentrations in individual red blood cells, calculated as the standard deviation of hemoglobin content divided by the mean hemoglobin content. [ NCI ]" [] synonym: "CHDW" EXACT [] synonym: "Corpuscular HGB Conc Distribution Width" EXACT [] synonym: "Erythrocyte Corpuscular Hemoglobin Concentration Distribution Width" EXACT [] xref: NCIt:C139068 is_a: EFO:0004509 ! hemoglobin measurement property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009205 name: Corpuscular Hemoglobin Content def: "A measurement of the mean red blood cell hemoglobin content within an individual red blood cell, calculated as the product of cell volume and cell hemoglobin concentration. [ NCI ]" [] synonym: "Cellular Hemoglobin Content" EXACT [] synonym: "CH" EXACT [] synonym: "CHCNT" EXACT [] synonym: "Erythrocyte Corpuscular Hemoglobin Content" EXACT [] xref: NCIt:C139066 is_a: EFO:0004509 ! hemoglobin measurement property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009206 name: Free Hemoglobin Measurement def: "The determination of the amount of free hemoglobin present in a sample. [ NCI ]" [] synonym: "Hemoglobin, Free" EXACT [] synonym: "HGBFR" EXACT [] xref: NCIt:C127617 is_a: EFO:0004509 ! hemoglobin measurement property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009207 name: obsolete_Glycosylated Hemoglobin Measurement property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.18.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate of http://www.ebi.ac.uk/efo/EFO_0004541." xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0004541 [Term] id: EFO:0009208 name: Hemoglobin A Measurement def: "The determination of the amount of hemoglobin A present in a sample. [ NCI ]" [] synonym: "Hemoglobin A" EXACT [] synonym: "HGBA" EXACT [] xref: NCIt:C92258 xref: UMLS:C1281911 is_a: EFO:0004509 ! hemoglobin measurement property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009209 name: Hemoglobin A to Total Hemoglobin Ratio Measurement def: "The determination of the ratio of Hemoglobin A compared to total Hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage. [ NCI ]" [] synonym: "Hemoglobin A/Total Hemoglobin" EXACT [] synonym: "HGBAHGB" EXACT [] synonym: "Percent Hemoglobin A" EXACT [] xref: NCIt:C81276 xref: UMLS:C2825554 is_a: EFO:0004509 ! hemoglobin measurement property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009210 name: Hemoglobin A1 to Total Hemoglobin Ratio Measurement def: "The determination of the ratio of hemoglobin A1 compared to total hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage. [ NCI ]" [] synonym: "Hemoglobin A1/Total Hemoglobin" EXACT [] synonym: "HGBA1HGB" EXACT [] xref: NCIt:C147363 is_a: EFO:0004509 ! hemoglobin measurement property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009211 name: Hemoglobin A2 Prime to Total Hemoglobin Ratio Measurement def: "The determination of the ratio of hemoglobin A2 prime compared to total hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage. [ NCI ]" [] synonym: "HBA2PHB" EXACT [] synonym: "Hemoglobin A2 Prime/Total Hemoglobin" EXACT [] xref: NCIt:C147353 is_a: EFO:0004509 ! hemoglobin measurement property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009212 name: Hemoglobin A2 to Total Hemoglobin Ratio Measurement def: "The determination of the ratio of Hemoglobin A2 compared to total Hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage. [ NCI ]" [] synonym: "Hemoglobin A2/Total Hemoglobin" EXACT [] synonym: "HGBA2HGB" EXACT [] synonym: "Percent Hemoglobin A2" EXACT [] xref: NCIt:C81277 xref: UMLS:C2825555 is_a: EFO:0004509 ! hemoglobin measurement property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009213 name: Hemoglobin B Measurement def: "The determination of the amount of hemoglobin B present in a sample. [ NCI ]" [] synonym: "Hemoglobin B" EXACT [] synonym: "HGBB" EXACT [] xref: NCIt:C92260 xref: UMLS:C2984939 is_a: EFO:0004509 ! hemoglobin measurement property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009214 name: Hemoglobin Barts to Total Hemoglobin Ratio Measurement def: "The determination of the ratio of hemoglobin Barts compared to total hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage. [ NCI ]" [] synonym: "HBBARTHB" EXACT [] synonym: "Hemoglobin Barts/Total Hemoglobin" EXACT [] xref: NCIt:C147354 is_a: EFO:0004509 ! hemoglobin measurement property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009215 name: Hemoglobin C Measurement def: "The determination of the amount of hemoglobin C present in a sample. [ NCI ]" [] synonym: "Hemoglobin C" EXACT [] synonym: "HGBC" EXACT [] synonym: "Measurement of Hemoglobin C" EXACT [] xref: NCIt:C92261 xref: UMLS:C1275423 is_a: EFO:0004509 ! hemoglobin measurement property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009216 name: Hemoglobin C to Total Hemoglobin Ratio Measurement def: "The determination of the ratio of Hemoglobin C compared to total Hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage. [ NCI ]" [] synonym: "Hemoglobin C/Total Hemoglobin" EXACT [] synonym: "HGBCHGB" EXACT [] synonym: "Percent Hemoglobin C" EXACT [] xref: NCIt:C81278 xref: UMLS:C2825556 is_a: EFO:0004509 ! hemoglobin measurement property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009217 name: Hemoglobin D to Total Hemoglobin Ratio Measurement def: "The determination of the ratio of hemoglobin D compared to total hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage. [ NCI ]" [] synonym: "Hemoglobin D/Total Hemoglobin" EXACT [] synonym: "HGBDHGB" EXACT [] xref: NCIt:C147364 is_a: EFO:0004509 ! hemoglobin measurement property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009218 name: Hemoglobin E to Total Hemoglobin Ratio Measurement def: "The determination of the ratio of hemoglobin E compared to total hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage. [ NCI ]" [] synonym: "Hemoglobin E/Total Hemoglobin" EXACT [] synonym: "HGBEHGB" EXACT [] xref: NCIt:C147365 is_a: EFO:0004509 ! hemoglobin measurement property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009219 name: Hemoglobin F to Total Hemoglobin Ratio Measurement def: "The determination of the ratio of hemoglobin F compared to total hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage. [ NCI ]" [] synonym: "Hemoglobin F/Total Hemoglobin" EXACT [] synonym: "HGBFHGB" EXACT [] xref: NCIt:C147366 is_a: EFO:0004509 ! hemoglobin measurement property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009220 name: Hemoglobin G Coushatta to Total Hemoglobin Ratio Measurement def: "The determination of the ratio of hemoglobin G compared to total hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage. [ NCI ]" [] synonym: "HBGCHTHB" EXACT [] synonym: "Hemoglobin G Coushatta/Total Hemoglobin" EXACT [] xref: NCIt:C147356 is_a: EFO:0004509 ! hemoglobin measurement property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009221 name: Hemoglobin Lepore to Total Hemoglobin Ratio Measurement def: "The determination of the ratio of hemoglobin Lepore compared to total hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage. [ NCI ]" [] synonym: "HBLEPRHB" EXACT [] synonym: "Hemoglobin Lepore/Total Hemoglobin" EXACT [] xref: NCIt:C147357 is_a: EFO:0004509 ! hemoglobin measurement property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009222 name: Hemoglobin O-Arab to Total Hemoglobin Ratio Measurement def: "The determination of the ratio of hemoglobin O-Arab compared to total hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage. [ NCI ]" [] synonym: "HBOARBHB" EXACT [] synonym: "Hemoglobin O-Arab/Total Hemoglobin" EXACT [] xref: NCIt:C147358 is_a: EFO:0004509 ! hemoglobin measurement property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009223 name: Hemoglobin S Measurement def: "The determination of the amount of hemoglobin S present in a sample. [ NCI ]" [] synonym: "Hemoglobin S" EXACT [] synonym: "HGBS" EXACT [] synonym: "Sickle Hemoglobin" EXACT [] xref: NCIt:C122123 is_a: EFO:0004509 ! hemoglobin measurement property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009224 name: Hemoglobin S to Total Hemoglobin Ratio Measurement def: "The determination of the ratio of Hemoglobin S compared to total Hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage. [ NCI ]" [] synonym: "Hemoglobin S Measurement" EXACT [] synonym: "Hemoglobin S/Total Hemoglobin" EXACT [] synonym: "HGBSHGB" EXACT [] synonym: "Percent Hemoglobin S" EXACT [] xref: NCIt:C81279 xref: UMLS:C2825557 is_a: EFO:0004509 ! hemoglobin measurement property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009225 name: Hemoglobin Tetramer Measurement def: "The determination of the amount of hemoglobin tetramer in a biological sample. [ NCI ]" [] synonym: "Hemoglobin Tetramer" EXACT [] synonym: "HGBTET" EXACT [] xref: NCIt:C135425 is_a: EFO:0004509 ! hemoglobin measurement property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009226 name: Methemoglobin to Total Hemoglobin Ratio Measurement def: "The determination of the ratio of methemoglobin compared to total hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage. [ NCI ]" [] synonym: "HGBMHGB" EXACT [] synonym: "Methemoglobin/Total Hemoglobin" EXACT [] xref: NCIt:C147367 is_a: EFO:0004509 ! hemoglobin measurement property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009227 name: Oxyhemoglobin to Total Hemoglobin Ratio Measurement def: "The determination of the ratio of oxyhemoglobin compared to total hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage. [ NCI ]" [] synonym: "HBOXHGB" EXACT [] synonym: "Oxyhemoglobin/Total Hemoglobin" EXACT [] xref: NCIt:C147359 is_a: EFO:0004509 ! hemoglobin measurement property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009228 name: Reticulocyte Corpuscular Hemoglobin Concentration Mean def: "An indirect measurement of the average concentration of hemoglobin per reticulocyte in a biological specimen, calculated as the ratio of hemoglobin to hematocrit. [ NCI ]" [] synonym: "CHCMR" EXACT [] synonym: "CHCMr" EXACT [] synonym: "Ret. Corpuscular HGB Concentration Mean" EXACT [] xref: NCIt:C138970 is_a: EFO:0004509 ! hemoglobin measurement property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009229 name: Reticulocyte Corpuscular Hemoglobin Content def: "The determination of the amount of hemoglobin in reticulocytes within a sample. [ NCI ]" [] synonym: "CHr" EXACT [] synonym: "Ret. Corpuscular Hemoglobin Content" EXACT [] synonym: "RETICH" EXACT [] synonym: "Reticulocyte Cellular Hemoglobin Content" EXACT [] synonym: "Total Reticulocyte Corpuscular Hemoglobin Content Measurement" EXACT [] xref: NCIt:C98776 xref: UMLS:C3890034 is_a: EFO:0004509 ! hemoglobin measurement property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009230 name: Reticulocyte Corpuscular Hemoglobin Distribution Width def: "A measurement of the standard deviation of hemoglobin concentrations in reticulocytes, calculated as the standard deviation of hemoglobin content divided by the mean hemoglobin content. [ NCI ]" [] synonym: "CHDWR" EXACT [] synonym: "Ret Corpuscular HGB Conc Distr Width" EXACT [] xref: NCIt:C139069 is_a: EFO:0004509 ! hemoglobin measurement property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009231 name: Reticulocyte Hemoglobin Distribution Width def: "A measurement of the distribution of the hemoglobin concentration in reticulocytes. [ NCI ]" [] synonym: "HDWR" EXACT [] synonym: "Ret Hemoglobin Distribution Width" EXACT [] synonym: "Reticulocyte Hemoglobin Concentration Distribution Width" EXACT [] xref: NCIt:C139070 is_a: EFO:0004509 ! hemoglobin measurement property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009232 name: Blast Count def: "The determination of the number of blast cells present in a blood sample. [ NCI ]" [] synonym: "BLAST" EXACT [] synonym: "Blasts" EXACT [] xref: NCIt:C74605 xref: UMLS:C0523113 is_a: EFO:0004586 ! complete blood cell count property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009233 name: Blood Cell Count Ratio Measurement def: "The determination of the ratio of one blood cell component lto another in a blood sample. The measurement may be expressed as either a ratio or a percentage. [ NCI ]" [] xref: NCIt:C67208 xref: UMLS:C1879889 is_a: EFO:0004586 ! complete blood cell count property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009234 name: Blood Cell Count with Differential def: "A hematologic procedure to determine the number of red blood cells, white blood cells, and platelets, including the white cell differential count and red cell morphology, in a blood sample. [ NCI ]" [] synonym: "CBC with Diff" EXACT [] xref: NCIt:C98494 xref: UMLS:C0545131 is_a: EFO:0004586 ! complete blood cell count property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009235 name: Eosinophilic Metamyelocyte Count def: "The determination of the number of eosinophilic metamyelocytes in a blood sample. [ NCI ]" [] synonym: "Eosinophilic Metamyelocytes" EXACT [] synonym: "EOSMM" EXACT [] xref: NCIt:C84819 xref: UMLS:C2827509 is_a: EFO:0004586 ! complete blood cell count property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009236 name: Eosinophilic Myelocyte Count def: "The determination of the number of eosinophilic myelocytes in a blood sample. [ NCI ]" [] synonym: "Eosinophilic Myelocytes" EXACT [] synonym: "EOSMYL" EXACT [] xref: NCIt:C84821 xref: UMLS:C2827510 is_a: EFO:0004586 ! complete blood cell count property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009237 name: Estimated Platelets Measurement def: "The estimated amount of platelets in a biological sample. [ NCI ]" [] synonym: "Estimated" EXACT [] synonym: "Platelets" EXACT [] synonym: "PLATEST" EXACT [] xref: NCIt:C135440 xref: UMLS:C0200642 is_a: EFO:0004586 ! complete blood cell count property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009238 name: Immature Plasma Cell Count def: "The determination of the amount of immature plasma cells present in a sample. [ NCI ]" [] synonym: "Immature Plasma Cells" EXACT [] synonym: "PLSIMCE" EXACT [] xref: NCIt:C96679 xref: UMLS:C3272957 is_a: EFO:0004586 ! complete blood cell count property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009239 name: Mature Plasma Cell Count def: "The determination of the number of mature plasma cells present in a sample. [ NCI ]" [] synonym: "Mature Plasma Cells" EXACT [] synonym: "Plasmacytes" EXACT [] synonym: "PLSMCE" EXACT [] xref: NCIt:C74661 xref: UMLS:C2698029 is_a: EFO:0004586 ! complete blood cell count property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009240 name: Metarubricyte Count def: "The determination of the amount of metarubricytes present in a sample. [ NCI ]" [] synonym: "METARUB" EXACT [] synonym: "Metarubricyte" EXACT [] synonym: "Orthochromatophilic Normoblast" EXACT [] synonym: "Orthochromic Erythroblast" EXACT [] synonym: "Orthochromic Normoblast" EXACT [] xref: NCIt:C128972 xref: UMLS:C0029330 is_a: EFO:0004586 ! complete blood cell count property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009241 name: Monocytoid Cells to Leukocytes Ratio Measurement def: "The determination of the ratio of monocytoid cells compared to leukocytes present in a sample. The measurement may be expressed as a ratio or percentage. [ NCI ]" [] synonym: "MOCYCELE" EXACT [] synonym: "Monocytoid Cells/Leukocytes" EXACT [] xref: NCIt:C120641 xref: UMLS:C4054477 is_a: EFO:0004586 ! complete blood cell count property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009242 name: Myeloid Progenitor Cell Count def: "The determination of the number of myeloid progenitor cells in a sample. [ NCI ]" [] synonym: "Myeloid Progenitor Cells" EXACT [] synonym: "MYPC" EXACT [] xref: NCIt:C130165 is_a: EFO:0004586 ! complete blood cell count property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009243 name: Myeloid to Erythroid Ratio Measurement def: "The determination of the ratio of myeloid cells compared to erythroid cells present in a sample. The measurement may be expressed as a ratio or percentage. [ NCI ]" [] synonym: "Myeloid/Erythroid Ratio" EXACT [] synonym: "MYPCERPC" EXACT [] xref: NCIt:C92242 xref: UMLS:C2984931 is_a: EFO:0004586 ! complete blood cell count property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009244 name: Neutrophilic Metamyelocyte Count def: "The determination of the number of neutrophilic metamyelocytes in a blood sample. [ NCI ]" [] synonym: "NEUTMM" EXACT [] synonym: "Neutrophilic Metamyelocytes" EXACT [] xref: NCIt:C84822 xref: UMLS:C2827511 is_a: EFO:0004586 ! complete blood cell count property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009245 name: Neutrophilic Myelocyte Count def: "The determination of the number of neutrophilic myelocytes in a blood sample. [ NCI ]" [] synonym: "NEUTMY" EXACT [] synonym: "Neutrophilic Myelocytes" EXACT [] xref: NCIt:C84823 xref: UMLS:C2827512 is_a: EFO:0004586 ! complete blood cell count property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009246 name: Neutrophils Band Form to Neutrophils Ratio Measurement def: "The determination of the ratio of neutrophil band form compared to neutrophils present in a sample. The measurement may be expressed as a ratio or percentage. [ NCI]" [] synonym: "NEUTBNE" EXACT [] synonym: "Neutrophils Band Form/ Neutrophils" EXACT [] xref: NCIt:C120642 xref: UMLS:C4054355 is_a: EFO:0004586 ! complete blood cell count property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009247 name: Ovalocyte Count def: "The determination of the amount of ovalocytes present in a sample. [ NCI ]" [] synonym: "OVALCY" EXACT [] synonym: "Ovalocytes" EXACT [] xref: NCIt:C142287 is_a: EFO:0004586 ! complete blood cell count property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009248 name: Plasma Cell Count def: "The determination of the amount of plasma cells present in a sample. [ NCI ]" [] synonym: "PLSTCE" EXACT [] synonym: "Total Plasma Cells" EXACT [] xref: MedDRA:1005MedDRA\:1006 xref: NCIt:C128974 xref: UMLS:C0581142 is_a: EFO:0004586 ! complete blood cell count property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009249 name: Precursor Plasma Cell Count def: "The determination of the number of precursor plasma cells present in a sample. [ NCI ]" [] synonym: "Plasmablast" EXACT [] synonym: "PLSPCE" EXACT [] synonym: "Precursor Plasma Cells" EXACT [] xref: NCIt:C74619 xref: UMLS:C2698870 is_a: EFO:0004586 ! complete blood cell count property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009250 name: Prorubricyte Count def: "The determination of the amount of prorubricytes present in a sample. [ NCI ]" [] synonym: "Basophilic Erythroblast" EXACT [] synonym: "Basophilic Normoblast" EXACT [] synonym: "PRORUB" EXACT [] synonym: "Prorubricyte" EXACT [] xref: NCIt:C128976 is_a: EFO:0004586 ! complete blood cell count property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009251 name: Rubricyte Count def: "The determination of the amount of rubricytes present in a sample. [ NCI ]" [] synonym: "Polychromatophilic Erythroblast" EXACT [] synonym: "Polychromatophilic Normoblast" EXACT [] synonym: "RUB" EXACT [] synonym: "Rubricyte" EXACT [] xref: NCIt:C128978 is_a: EFO:0004586 ! complete blood cell count property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009252 name: Segmented Neutrophils to Neutrophils Ratio Measurement def: "The determination of the ratio of segmented neutrophils compared to neutrophils present in a sample. The measurement may be expressed as a ratio or percentage. [NCI ]" [] synonym: "Neutrophils" EXACT [] synonym: "NEUTSGNE" EXACT [] synonym: "Segmented/Neutrophils" EXACT [] xref: NCIt:C120643 xref: UMLS:C4054040 is_a: EFO:0004586 ! complete blood cell count property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009253 name: Immature Reticulocyte Fraction Measurement def: "The determination of the ratio of immature reticulocytes to total reticulocytes present in a sample. [ NCI ]" [] synonym: "Immature Reticulocyte Fraction" EXACT [] synonym: "IRF" EXACT [] synonym: "Measurement of Immature Reticulocyte Fraction" EXACT [] xref: NCIt:C102276 xref: UMLS:C1446165 is_a: EFO:0009233 ! Blood Cell Count Ratio Measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009254 name: optic nerve glioblastoma def: "A glioma that affects the optic nerve. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group." [NCIT:C4537] synonym: "cranial nerve II glioma" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "glioma of cranial nerve II" EXACT [MONDO:design_pattern] synonym: "glioma of optic nerve" EXACT [NCIT:C4537] synonym: "glioma of the optic nerve" EXACT [DOID:4992, NCIT:C4537] synonym: "optic nerve glioma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "optic nerve glioma" EXACT [NCIT:C4537] synonym: "optic nerve glioma" EXACT [] {comment="preferred label from MONDO"} xref: DOID:4992 {source="MONDO:equivalentTo"} xref: ICD9:237.9 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:237.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D020339 {source="DOID:4992", source="MONDO:equivalentTo"} xref: MONDO:0003235 xref: NCIT:C4537 {source="DOID:4992", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C4537 {source="DOID:4992", source="MONDO:equivalentTo", source="exact-label-match"} xref: SCTID:254976006 {source="DOID:4992", source="MONDO:equivalentTo"} xref: UMLS:C0346326 {source="DOID:4992", source="MONDO:equivalentTo", source="NCIT:C4537"} is_a: EFO:1000979 ! hypothalamic neoplasm is_a: EFO:1001073 {source="DOID:4992", source="MESH:D020339", source="MONDO:Redundant", source="NCIT:C4537"} ! optic nerve neoplasm is_a: MONDO:0016167 {source="NCIT:C4537"} ! optic pathway glioma property_value: closeMatch http://identifiers.org/snomedct/404662003 property_value: exactMatch DOID:4992 property_value: exactMatch DOID:4992 property_value: exactMatch http://identifiers.org/mesh/D020339 property_value: exactMatch http://identifiers.org/mesh/D020339 property_value: exactMatch http://identifiers.org/snomedct/254976006 property_value: exactMatch http://identifiers.org/snomedct/254976006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346326 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346326 property_value: exactMatch NCIT:C4537 property_value: exactMatch NCIT:C4537 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:0009255 name: cecal neoplasm def: "A benign or malignant neoplasm that affects the cecum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Cecal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." [NCIT:P378] synonym: "caecum neoplasm" EXACT [] synonym: "caecum neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "caecum tumor" EXACT [MONDO:patterns/neoplasm] synonym: "caecum tumour" EXACT OMO:0003005 [] synonym: "cecal benign neoplasm" RELATED [DOID:1517] synonym: "cecal neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "cecal neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "cecum neoplasm" EXACT [DOID:1517, NCIT:C4433] synonym: "cecum tumor" EXACT [NCIT:C4433] synonym: "cecum tumour" EXACT OMO:0003005 [] synonym: "neoplasm of caecum" EXACT [DOID:1517, MONDO:patterns/neoplasm] synonym: "neoplasm of cecum" EXACT [NCIT:C4433] synonym: "neoplasm of the cecum" EXACT [NCIT:C4433] synonym: "tumor of caecum" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of cecum" EXACT [NCIT:C4433] synonym: "tumor of the cecum" EXACT [NCIT:C4433] synonym: "tumour of caecum" EXACT OMO:0003005 [] synonym: "tumour of cecum" EXACT OMO:0003005 [] synonym: "tumour of the cecum" EXACT OMO:0003005 [] xref: DOID:1517 {source="MONDO:equivalentTo", source="EFO:0007197"} xref: EFO:0007197 {source="MONDO:equivalentTo"} xref: MESH:D002430 {source="MONDO:equivalentTo", source="EFO:0007197", source="DOID:1517"} xref: MONDO:0005694 xref: NCIT:C4433 {source="MONDO:equivalentTo", source="DOID:1517"} xref: SCTID:126839008 {source="MONDO:equivalentTo", source="DOID:1517"} xref: UMLS:C0007528 {source="MONDO:equivalentTo", source="NCIT:C4433", source="DOID:1517"} is_a: EFO:0004288 {source="EFO:0007197/inferred", source="MONDO:Redundant", source="NCIT:C4433"} ! colonic neoplasm is_a: MONDO:0002031 {source="MESH:D002430", source="MONDO:Redundant"} ! cecal disorder property_value: exactMatch DOID:1517 property_value: exactMatch DOID:1517 property_value: exactMatch http://identifiers.org/mesh/D002430 property_value: exactMatch http://identifiers.org/mesh/D002430 property_value: exactMatch http://identifiers.org/snomedct/126839008 property_value: exactMatch http://identifiers.org/snomedct/126839008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007528 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007528 property_value: exactMatch NCIT:C4433 property_value: exactMatch NCIT:C4433 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/neoplasm.yaml [Term] id: EFO:0009256 name: standard deviation of the normal-to-normal inter beat intervals def: "Quantification of the intervals between normal heartbeats, expressed as standard deviation." [] synonym: "SDNN" EXACT [] xref: PMID:28613276 is_a: EFO:0008003 ! heart rate variability measurement property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0009257 name: root mean square of the successive differences of inter beat intervals def: "Quantification of the differences in intervals between heartbeats, expressed as root mean square." [] synonym: "RMSSD" EXACT [] xref: PMID:28613276 is_a: EFO:0008003 ! heart rate variability measurement property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0009258 name: peak-valley respiratory sinus arrhythmia or high frequency power def: "Quantification of some aspects of sinus arrhythmia or high frequency power." [] synonym: "pvRSA/HF" EXACT [] xref: PMID:28613276 is_a: EFO:0008003 ! heart rate variability measurement property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0009259 name: skin carcinoma def: "A carcinoma that arises from epithelial cells of the zone of skin" [https://orcid.org/0000-0002-6601-2165] def: "A carcinoma that arises from epithelial cells of the zone of skin" [MONDO:DesignPattern] synonym: "carcinoma of skin" EXACT [DOID:3451, MTH:683, NCIT:C4914] synonym: "carcinoma of the skin" EXACT [NCIT:C4914] synonym: "carcinoma of zone of skin" EXACT [MONDO:patterns/carcinoma] synonym: "non-melanoma cancer of skin" EXACT [NCIT:C4914] synonym: "non-melanoma cancer of the skin" EXACT [NCIT:C4914] synonym: "non-melanoma skin cancer" EXACT [NCIT:C4914] synonym: "nonmelanoma skin cancer" EXACT [NCIT:C4914] synonym: "skin cancer, non-melanoma" EXACT [NCIT:C4914] synonym: "skin carcinoma" EXACT [NCIT:C4914] synonym: "skin carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "skin carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "zone of skin carcinoma" EXACT [MONDO:patterns/location] xref: DOID:3451 {source="MONDO:equivalentTo"} xref: MONDO:0002656 xref: NCIT:C4914 {source="DOID:3451", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C4914 {source="DOID:3451", source="MONDO:equivalentTo", source="exact-label-match"} xref: UMLS:C0699893 {source="DOID:3451", source="NCIT:C4914", source="MONDO:equivalentTo"} is_a: EFO:0000313 {source="DOID:3451", source="MONDO:Redundant", source="NCIT:C4914"} ! carcinoma is_a: MONDO:0002898 {source="DOID:3451", source="MONDO:Redundant", source="NCIT:C4914"} ! skin cancer is_a: MONDO:0021634 {source="MONDO:Redundant", source="NCIT:C4914"} ! epithelial skin neoplasm property_value: exactMatch DOID:3451 property_value: exactMatch DOID:3451 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0699893 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0699893 property_value: exactMatch NCIT:C4914 property_value: exactMatch NCIT:C4914 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:0009260 name: non-melanoma skin carcinoma def: "Any skin carcinoma that is not melanoma, with the most common types being basal cell carcinoma and squamous cell carcinoma" [] synonym: "non-melanoma skin cancer" EXACT [] synonym: "nonmelanoma skin cancer" EXACT [] synonym: "nonmelanoma skin carcinoma" EXACT [] xref: MedDRA:10007116 is_a: EFO:0009259 ! skin carcinoma property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009261 name: response to aripiprazole def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a aripiprazole stimulus." [] is_a: GO:0097332 ! response to antipsychotic drug property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009262 name: nicotine dependence symptom count def: "Quantification of symptom associated with nicotine dependence." [] xref: PMID:29532581 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009263 name: nicotine withdrawal symptom count def: "Quantification of symptom associated with nicotine withdrawal." [] xref: PMID:29532581 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009264 name: maximum cigarettes per day measurement def: "Quantification of the maximum number of cigarettes that a subject smoked per day" [] xref: PMID:29532581 is_a: EFO:0005671 ! smoking behaviour measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009265 name: nausea and vomiting of pregnancy severity measurement synonym: "Morning sickness severity measurement" EXACT [] synonym: "NVP severity measurement" EXACT [] xref: PMID:29563502 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 UBERON:0000990 ! is_about reproductive system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009266 name: refractory celiac disease def: "An unresponsive case of celiac disease where the villi of a patient with celiac disease do not recover even after the patient stays on a gluten-free diet. For a diagnosis of refractory celica disease, all other possible causes of the intestinal damage must be eliminated. The condition affects a small percentage of people with celiac disease." [] def: "Refractory celiac disease (RCD) is a complex autoimmune disorder much like the more common celiac disease but, unlike celiac disease, it is resistant or unresponsive to at least 12 months of treatment with a strict gluten-free diet. Gliadin, a component of the wheat storage protein gluten, together with similar proteins in barley and rye, are the villains that trigger the immune reaction in celiac disease. The diagnosis of RCD is made by exclusion, especially of any other disorder that can affect the huge number of thread-like projections that line the interior of the intestine (intestinal villi), such as intestinal lymphoma, Crohn's disease, small intestinal bacterial overgrowth or hypogammaglobulinemia." [https://rarediseases.org/rare-diseases/refractory-celiac-disease/] subset: ordo_disease {source="Orphanet:398063"} synonym: "intractable celiac sprue" EXACT [https://rarediseases.org/rare-diseases/refractory-celiac-disease/] synonym: "intractable coeliac sprue" EXACT OMO:0003005 [] synonym: "refractory CD" EXACT [Orphanet:398063] synonym: "refractory celiac disease" EXACT [] {comment="preferred label from MONDO"} synonym: "refractory coeliac diease" EXACT [] synonym: "refractory sprue" EXACT [Orphanet:398063] synonym: "type I refractory sprue" NARROW [https://rarediseases.org/rare-diseases/refractory-celiac-disease/] synonym: "type II refractory sprue" NARROW [https://rarediseases.org/rare-diseases/refractory-celiac-disease/] synonym: "unresponsive celiac disease" EXACT [] synonym: "unresponsive coeliac disease" EXACT [] xref: ICD10CM:K90.0 {source="MONDO:relatedTo", source="Orphanet:398063/ntbt", source="Orphanet:398063"} xref: MONDO:0018353 xref: Orphanet:398063 {source="MONDO:equivalentTo"} xref: UMLS:CN226092 {source="MONDO:equivalentTo"} is_a: EFO:0009431 {source="Orphanet:398063"} ! intestinal disease relationship: disease_shares_features_of EFO:0001060 ! celiac disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015245"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226092 property_value: exactMatch Orphanet:398063 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009267 name: delirium def: "A disorder characterized by confusion; inattentiveness; disorientation; illusions; hallucinations; agitation; and in some instances autonomic nervous system overactivity. It may result from toxic/metabolic conditions or structural brain lesions. (From Adams et al., Principles of Neurology, 6th ed, pp411-2)" [MESH:D003693] def: "A state of sudden and severe confusion." [] synonym: "delirium" EXACT [] {comment="preferred label from MONDO"} synonym: "OBS syndrome" RELATED [PMID:15876360] synonym: "organic brain syndrome" RELATED [] xref: ICD9:293.0 xref: MedDRA:10012218 xref: MedDRA:10012226 xref: MESH:D003693 {source="MONDO:equivalentTo"} xref: MONDO:0045057 xref: NCIT:C2981 {source="MONDO:equivalentTo"} xref: NCIt:C2981 xref: SCTID:2776000 {source="MONDO:equivalentTo"} xref: UMLS:C0011206 {source="MONDO:equivalentTo"} is_a: MONDO:0002039 {source="MESH:D003693"} ! cognitive disorder property_value: exactMatch http://identifiers.org/mesh/D003693 property_value: exactMatch http://identifiers.org/snomedct/2776000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011206 property_value: exactMatch NCIT:C2981 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009268 name: family history of Alzheimer’s disease def: "A reported family history of Alzheimer’s disease in one or more family members." [] synonym: "Alzheimer disease family history" EXACT [] synonym: "Alzheimer’s disease family history" EXACT [] synonym: "family history of Alzheimer disease" EXACT [] is_a: EFO:0000493 ! family history is_a: EFO:0006514 ! Alzheimer's disease biomarker measurement relationship: IAO:0000136 MONDO:0004975 ! is_about Alzheimer disease property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009269 name: ADAMTS13 measurement def: "Quantification of the levels of ADAMTS13 protein in a sample, typically blood plasma" [] synonym: "disintegrin and metalloproteinase with thrombospondin motifs 13 measurement" EXACT [] xref: PMID:29296746 is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 GO:0007596 ! is_about blood coagulation property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009270 name: heel bone mineral density def: "Quantification of the mineral density of the heel bone" [] xref: PMID:28869591 is_a: EFO:0003923 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! bone density relationship: IAO:0000136 UBERON:0001450 ! is_about calcaneus relationship: IAO:0000136 UBERON:0001474 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! is_about bone element property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009271 name: Epstein Barr virus nuclear antigen-1 seropositivity def: "The result of a measurement of circulating Epstein Barr virus nuclear antigen-1 antibodies used in the diagnosis of latent Epstein-Barr virus infection" [] synonym: "EBNA seropositivity" EXACT [] synonym: "EBNA-1 seropositivity" EXACT [] xref: PMID:29868224 is_a: EFO:0006843 ! infectious disease biomarker is_a: EFO:0007034 ! seropositivity measurement relationship: IAO:0000136 EFO:0000769 ! is_about Epstein-Barr virus infection property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009272 name: Epstein Barr viral capsid antigen seropositivity def: "The result of a measurement of circulating Epstein Barr viral capsid antigen antibodies used in the diagnosis of Epstein-Barr virus infection" [] synonym: "VCA seropositivity" EXACT [] synonym: "VCA-IgG seropositivity" EXACT [] xref: PMID:29868224 is_a: EFO:0006843 ! infectious disease biomarker is_a: EFO:0007034 ! seropositivity measurement relationship: IAO:0000136 EFO:0000769 ! is_about Epstein-Barr virus infection property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009273 name: anti-Epstein Barr virus antibody measurement def: "Quantification of one or more antibodies to the Epstein-Barr virus, typically in serum" [] synonym: "anti-EBV antibody measurement" EXACT [] xref: PMID:29868224 is_a: EFO:0004556 ! antibody measurement is_a: EFO:0006843 ! infectious disease biomarker relationship: IAO:0000136 EFO:0000769 ! is_about Epstein-Barr virus infection property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009274 name: Epstein Barr viral capsid antigen IgG measurement def: "Quantification of antibodies to the Epstein-Barr virus viral capsid antigen, typically in serum." [] synonym: "VCA-IgG measurement" EXACT [] xref: PMID:29868224 is_a: EFO:0004565 ! serum IgG measurement is_a: EFO:0006843 ! infectious disease biomarker relationship: IAO:0000136 EFO:0000769 ! is_about Epstein-Barr virus infection property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009275 name: premature cardiac contractions def: "A type of cardiac arrythmia with ventricular or atrial contractions that are initiated early by an ectopic site (outside of the sinoatrial node)." [] synonym: "cardiac ectopic complexes" EXACT [] synonym: "cardiac ectopic contractions" EXACT [] synonym: "cardiac ectopics" EXACT [] synonym: "cardiac ectopy" EXACT [] synonym: "premature cardiac complexes" EXACT [] synonym: "supraventricular and ventricular ectopy" EXACT [] is_a: EFO:0004269 ! cardiac arrhythmia property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009276 name: ventricular ectopy def: "A type of cardiac arrhythmia with premature ventricular contractions or beats caused by signals originating from ectopic sites." [] synonym: "extrasystole" EXACT [] synonym: "premature ventricular beats" EXACT [] synonym: "premature ventricular complex" EXACT [] synonym: "premature ventricular contractions" EXACT [] synonym: "PVC" EXACT [] synonym: "PVCs" EXACT [] synonym: "ventricular ectopic beats" EXACT [] synonym: "ventricular ectopics" EXACT [] synonym: "VPB" EXACT [] synonym: "VPCs" EXACT [] is_a: EFO:0009275 ! premature cardiac contractions property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009277 name: supraventricular ectopy def: "A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites." [] synonym: "atrial ectopic beats" EXACT [] synonym: "atrial premature complexes" EXACT [] synonym: "ectopic supraventricular rhythm" EXACT [] synonym: "PACs" EXACT [] synonym: "premature atrial contractions" EXACT [] synonym: "supraventricular ectopy" EXACT [] synonym: "SVE" EXACT [] xref: MedDRA:10050077 is_a: EFO:0009275 ! premature cardiac contractions property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009278 name: cranial vault morphology measurement def: "Quantification of any aspect of the morphology of the cranial vault, including shape, size, structure or pattern. The cranial vault is a region comprising interlocking flat bones surrounding the cerebral cortex." [] synonym: "cranial vault shape measurement" EXACT [] xref: PMID:29698431 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 UBERON:0000033 ! is_about head property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009279 name: response to tenofovir def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) in response to the anti-retroviral drug tenofovir disoproxil, typically used in the treatment of HIV or hepatitis B infection." [] is_a: GO:0061479 ! response to reverse transcriptase inhibitor property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009281 name: choroidal thickness measurement def: "Quantification of the thickness of the choroid, the vascular layer of the eye lying between the retina and the sclera." [] xref: PMID:29844195 is_a: EFO:0004731 ! eye measurement relationship: IAO:0000136 UBERON:0000970 ! is_about eye property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009282 name: sodium measurement def: "A quantitative measurement of the amount of sodium present in a sample." [] synonym: "Na measurement" EXACT [] synonym: "sodium levels" EXACT [] xref: PMID:29403010 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 CHEBI:26708 ! is_about sodium atom property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009283 name: potassium measurement def: "A quantitative measurement of the amount of potassium present in a sample." [] synonym: "K measurement" EXACT [] synonym: "potassium levels" EXACT [] xref: PMID:29403010 is_a: EFO:0001444 ! measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 CHEBI:26216 ! is_about potassium atom property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009284 name: chloride measurement def: "A quantitative measurement of the amount of chloride present in a sample." [] synonym: "chloride levels" EXACT [] synonym: "Cl measurement" EXACT [] xref: PMID:29403010 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 CHEBI:17996 ! is_about chloride property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009285 name: fractional shortening def: "A calculated measurement corresponding to the ratio or percent reduction in heart chamber diameter between end-systole and end-diastole." [] xref: modelled on http://purl.obolibrary.org/obo/CMO_0001488 xref: PMID:29403010 is_a: EFO:0004311 ! heart function measurement relationship: IAO:0000136 UBERON:0000948 ! is_about heart property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009286 name: heart relative wall thickness def: "A calculated measurement of heart wall geometry. It represents a measure of the wall thickness normalized to the size of the chamber lumen." [] xref: http://purl.obolibrary.org/obo/CMO_0000992 xref: PMID:29403010 is_a: EFO:0004311 ! heart function measurement relationship: IAO:0000136 UBERON:0000948 ! is_about heart property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009287 name: interventricular septum thickness def: "A quantitative measurement of the thickness of an interventricular septum." [] xref: http://purl.obolibrary.org/obo/OBA_0006021 xref: PMID:29403010 is_a: EFO:0004311 ! heart function measurement relationship: IAO:0000136 UBERON:0000948 ! is_about heart property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009288 name: posterior wall thickness def: "A quantitative measurement of the thickness or depth of the dorsal/posterior wall of the heart." [] xref: http://purl.obolibrary.org/obo/CMO_0000238 xref: PMID:29403010 is_a: EFO:0004311 ! heart function measurement relationship: IAO:0000136 UBERON:0000948 ! is_about heart property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009289 name: left ventricular mass def: "A quantitative measure calculated as the difference between the epicardium delimited volume and the left ventricular chamber volume" [] synonym: "LV mass" EXACT [] xref: http://purl.obolibrary.org/obo/NCIT_C35462 xref: PMID:29403010 is_a: EFO:0004311 ! heart function measurement relationship: IAO:0000136 UBERON:0000948 ! is_about heart property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009290 name: left ventricular mass index def: "The left ventricular mass divided by the subject's body surface area" [] synonym: "LV mass index" EXACT [] xref: http://purl.obolibrary.org/obo/NCIT_C142243 xref: PMID:29403010 is_a: EFO:0004311 ! heart function measurement relationship: IAO:0000136 UBERON:0000948 ! is_about heart property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009291 name: E/A ratio def: "The E/A ratio is a marker of the function of the left ventricle of the heart. It represents the ratio of peak velocity blood flow from gravity in early diastole (the E wave) to peak velocity flow in late diastole caused by atrial contraction (the A wave)." [] synonym: "E wave/A wave ratio" EXACT [] xref: https://en.wikipedia.org/wiki/E/A_ratio xref: PMID:29403010 is_a: EFO:0004311 ! heart function measurement relationship: IAO:0000136 UBERON:0000948 ! is_about heart property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009292 name: bone marrow aspiration def: "Aspiration of immature hematopoietic elements and blood from the bone marrow. It is done for the evaluation of hematopoietic disorders and for the evaluation of infectious diseases and cytogenetic studies. The procedure is usually done on the hip bone, breastbone, or thigh bone. A small area of skin and the surface of the bone underneath are numbed with an anesthetic. Then, a special wide needle is pushed into the bone. A sample of liquid bone marrow is removed with a syringe attached to the needle. The bone marrow is sent to a laboratory to be looked at under a microscope. This procedure may be done at the same time as a bone marrow biopsy." [] xref: NCIt:C15644 is_a: OBI:0600005 ! collecting specimen from organism [Term] id: EFO:0009293 name: percutaneous kidney biopsy def: "Removal of tissue from the kidney, for microscopic examination, obtained percutaneously." [] synonym: "percutaneous renal biopsy" EXACT [] xref: NCIt:C51901 is_a: EFO:0009120 ! biopsy [Term] id: EFO:0009294 name: CITE-seq def: "CITE-seq is a method in which oligonucleotide-labeled antibodies are used to integrate cellular protein and transcriptome measurements into an efficient, single-cell readout." [] synonym: "cellular indexing of transcriptomes and epitopes by sequencing" EXACT [] xref: PMID:28759029 is_a: EFO:0001457 ! RNA assay is_a: EFO:0010183 ! single cell library construction property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009295 name: polyarteritis nodosa, childhoood-onset def: "Childhood-onset polyarteritis nodosa is an autosomal recessive systemic vascular inflammatory disorder characterized mainly by involvement of the skin, nervous system, kidney, and gastrointestinal tract. There is considerable variability in the severity and age at onset, although most patients have onset of symptoms in the first decade. Features include recurrent ischemic stroke affecting the small vessels of the brain and resulting in neurologic dysfunction, recurrent fever, elevated acute-phase proteins, myalgias, and livedo racemosa or reticularis with an inflammatory vasculitis on biopsy. Some patients develop hypertension, aneurysms, or ischemic necrosis of the digits (summary by Zhou et al., 2014 and Navon Elkan et al., 2014). Some patients present with clinical immunodeficiency (van Eyck et al., 2014)." [] synonym: "ADA2 deficiency" EXACT [] xref: OMIM:615688 is_a: EFO:0009012 ! Polyarteritis Nodosa property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009296 name: mutyh-associated polyposis def: "An autosomal recessive hereditary neoplastic syndrome caused by mutations in the MUTYH gene on chromosome 1p34.1. It is characterized by the presence of multiple colorectal polyps that may progress to carcinoma. Development of gastric and small intestinal polyps may also occur." [] synonym: "MAP" EXACT [] synonym: "MUTYH-Associated Polyposis" EXACT [] synonym: "MYH-Associated Polyposis" EXACT [] xref: NCIt:C96520 is_a: Orphanet:165655 ! Genetic intestinal disease property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009297 name: fg syndrome def: "FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. 'FG' represents the surname initials of the firstindividuals diagnosed with the disorder.People withFG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia , constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes,alarge head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum . Medical problems including heart defects , seizures , undescended testicle , and an inguinal hernia have also been reported in some affected individuals. Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1. Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and BRWD3 (FGS7).FGS is inherited in an X-linked recessive pattern.Individualized early intervention and educational services are important so that each child can reach their fullest potential. [ GARD:0002317 ]" [] def: "FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. 'FG' represents the surname initials of the firstindividuals diagnosed with the disorder.People withFG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes,alarge head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum. Medical problems including heart defects, seizures, undescended testicle, and an inguinal hernia have also been reported in some affected individuals. Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1. Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and BRWD3 (FGS7).FGS is inherited in an X-linked recessive pattern.Individualized early intervention and educational services are important so that each child can reach their fullest potential." [GARD:0002317] subset: gard_rare {source="GARD:0002317"} synonym: "FG syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "FGS" RELATED ABBREVIATION [GARD:0002317] synonym: "FGS1" NARROW ABBREVIATION [GARD:0002317] synonym: "intellectual disability, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum" RELATED [GARD:0002317] synonym: "Keller syndrome" EXACT [DOID:14711] synonym: "mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum" RELATED DEPRECATED [GARD:0002317] synonym: "Opitz-Kaveggia syndrome" NARROW [DOID:14711, GARD:0002317] xref: DOID:14711 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MONDO:0002010 xref: OMIMPS:305400 {source="MONDO:equivalentTo"} xref: Orphanet:323 {source="MONDO:equivalentObsolete", source="GARD:0002317", source="DOID:14711"} xref: SCTID:49984004 {source="MONDO:equivalentTo", source="DOID:14711"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0020119 ! X-linked syndromic intellectual disability property_value: exactMatch DOID:14711 property_value: exactMatch http://identifiers.org/snomedct/49984004 property_value: exactMatch https://omim.org/phenotypicSeries/PS305400 property_value: IAO:0000117 "Hannah McLaren" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2317/fg-syndrome xsd:anyURI {source="GARD:0002317"} [Term] id: EFO:0009298 name: hepatic failure, early-onset, and neurologic disorder due to cytochrome c oxidase deficiency def: "Liver failure due to a mitochondrial oxidative phosphorylation disorder due to cytochrome c oxidase deficiency." [] is_a: Orphanet:101940 ! Rare metabolic liver disease is_a: Orphanet:2443 ! Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009299 name: marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections is_a: MONDO:0017310 ! Marfan and Marfan-related disorder property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009300 name: neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant def: "NDHMSD is a severe neurodevelopmental disorder characterized by profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder. Additional features may include cortical blindness, generalized cerebral atrophy, and seizures (summary by Lemke et al., 2016)." [] synonym: "intellectual disability, autosomal dominant 8" EXACT [] synonym: "NDHMSR" RELATED ABBREVIATION [OMIM:617820] synonym: "neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive" EXACT [] {comment="preferred label from MONDO"} synonym: "neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive" EXACT [OMIM:617820] xref: MONDO:0060629 xref: OMIM:614254 xref: OMIM:617820 {source="MONDO:equivalentTo"} xref: UMLS:CN737161 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0000508 ! syndromic intellectual disability is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN737161 property_value: exactMatch https://omim.org/entry/617820 property_value: IAO:0000117 "Hannah McLaren" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: EFO:0009301 name: dystonia 28, childhood-onset def: "Any dystonic disorder in which the cause of the disease is a mutation in the KMT2B gene." [MONDO:patterns/disease_series_by_gene] def: "Dystonia-28 is an autosomal dominant neurologic disorder characterized by onset of progressive dystonia in the first decade of life." [] subset: ordo_disease synonym: "Dystonia 28, childhood onset" EXACT [] synonym: "dystonia 28, childhood-onset" EXACT [] {comment="preferred label from MONDO"} synonym: "dystonia 28, childhood-onset" EXACT [OMIM:617284] synonym: "dystonia 28, childhood-onset; DYT28" EXACT [] synonym: "dystonic disorder caused by mutation in KMT2B" EXACT [MONDO:design_pattern] synonym: "DYT28" EXACT ABBREVIATION [OMIM:617284] synonym: "KMT2B dystonic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MONDO:0015004 xref: OMIM:617284 {source="MONDO:equivalentTo"} xref: Orphanet:589618 {source="MONDO:equivalentTo"} xref: UMLS:C4310633 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018329 {source="Orphanet:589618"} ! persistent combined dystonia is_a: Orphanet:391799 ! Rare genetic dystonia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310633 property_value: exactMatch https://omim.org/entry/617284 property_value: exactMatch Orphanet:589618 property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009302 name: amelogenesis imperfecta, type ij def: "Amelogenesis imperfecta is an inherited defect of dental enamel formation that shows both clinical and genetic heterogeneity." [] synonym: "AI1J" RELATED ABBREVIATION [OMIM:617297] synonym: "amelogenesis imperfecta, type 1J" EXACT [] {comment="preferred label from MONDO"} synonym: "amelogenesis imperfecta, type 1J" EXACT [OMIM:617297] synonym: "amelogenesis imperfecta, type Ij" EXACT [OMIM:617297] xref: DOID:0080953 {source="MONDO:equivalentTo"} xref: MONDO:0015008 xref: OMIM:617297 {source="MONDO:equivalentTo"} is_a: MONDO:0015047 ! amelogenesis imperfecta type 1 is_a: Orphanet:100031 ! Hypoplastic amelogenesis imperfecta property_value: exactMatch DOID:0080953 property_value: exactMatch https://omim.org/entry/617297 property_value: IAO:0000117 "Hannah McLaren" xsd:string [Term] id: EFO:0009303 name: fructosamine measurement def: "Quantification of levels of fructosamine present in a sample." [] xref: NCIt:C74678 xref: PMID:29844224 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009304 name: percent glycated albumin def: "Quantification of the percentage of serum albumin in a sample that is glycated." [] xref: PMID:29844224 is_a: EFO:0009307 ! glycated albumin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009305 name: total glycated albumin def: "Quantification of the total amount of glycated albumin in a sample." [] xref: PMID:29844224 is_a: EFO:0009307 ! glycated albumin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009306 name: atazanavir measurement def: "Quantification of the total amount of atazanavir, typically assayed in hair. This is used as a measure of exposure to the drug." [] synonym: "atazanavir levels" EXACT [] xref: PMID:29315502 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0009307 name: glycated albumin measurement def: "The determination of the amount of glycated albumin related peptide present in a biological specimen." [] xref: NCIt:C122092 is_a: EFO:0001444 ! measurement [Term] id: EFO:0009308 name: response to long-chain n-3 PUFA dietary supplementation def: "Physiological response of an organism to being given long-chain n-3 polyunsaturated fatty acids as a dietary supplement." [] synonym: "response to LC n-3 PUFA" EXACT [] is_a: EFO:0010757 ! response to diet relationship: OBI:0000293 CHEBI:35366 ! has_input fatty acid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009309 name: Div-Seq def: "Div-Seq is a single-nucleus RNA sequencing technique that improves upon sNuc-Seq by incorporating 5-ethynyl-2’-deoxyuridine (EdU) labeling to identify dividing cells during their different cell stages. EdU labeling also enables identification of different cell types in complex tissue samples and rare cell populationsduring FACS. Briefly, samples are labeled in vivo with EdU, dissected, and fixed before isolation into single nuclei. Individual nuclei are tagged fluorescently and sorted by FACS. From this step, the procedure follows the Nuc-Seq method: cDNA synthesis is performed using the Smart-seq2 protocol, while the cDNA library is prepared with Tn5 transposase–mediated tagmentation." [] xref: PMID:27471252 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009310 name: obsolete_10x v2 def: "10x v2 is the second version of the 10x sequencing technology." [] synonym: "10x v2" EXACT [] synonym: "10X v2 sequencing" RELATED [] synonym: "10x v2 sequencing" RELATED [] synonym: "10x_v2" EXACT [] synonym: "10XV2" EXACT [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.31.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "This term technically referred to the 3' version of the 10x technology protocol, and was created before a distinction was introduced between 3' and 5' versions." xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0009899 [Term] id: EFO:0009312 name: proprotein convertase subtilisin/kexin type 9 measurement def: "Quantification of the amount of proprotein convertase subtilisin/kexin type 9 in plasma." [] synonym: "PCSK9 measurement" EXACT [] xref: PMID:29748315 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009313 name: Linear IgA Dermatosis def: "Autoimmune disease characterized by subepidermal blisters and linear deposition of autoantibodies at the dermoepidermal junction. The accumulated autoantibodies are of immunoglobulin A and occasionally immunoglobulin G classes against epidermal basement membrane proteins. The dermatosis is sometimes associated with malignancies and use of certain drugs (e.g., vancomycin)." [MESH:D062027] def: "Autoimmune disease characterized by subepidermal blisters and linear deposition of autoantibodies at the dermoepidermal junction. The accumulated autoantibodies are of immunoglobulin A and occasionally immunoglobulin G classes against epidermal basement membrane proteins. The dermatosis is sometimes associated with malignancies and use of certain drugs (e.g., vancomycin). [ MeSH:D062027 ]" [] subset: ordo_disease {source="Orphanet:46488"} synonym: "Chronic Bullous Disease of Childhood" EXACT [] synonym: "Drug-induced Linear IgA Bullous Dermatosis" EXACT [] synonym: "Drug-induced Linear IgA Dermatosis" EXACT [] synonym: "Linear IgA bullous dermatosis" EXACT [] synonym: "linear IgA Dermatosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Linear IgA IgG Bullous Dermatosis" EXACT [] synonym: "Linear IgA IgG Dermatosis" EXACT [] xref: MedDRA:10024515 {source="Orphanet:46488/e", source="Orphanet:46488"} xref: MESH:D062027 {source="MONDO:equivalentTo"} xref: MeSH:D062027 xref: MONDO:0018748 xref: Orphanet:46488 {source="MONDO:equivalentTo"} xref: SCTID:95330001 {source="MONDO:equivalentTo"} xref: UMLS:C0406650 {source="Orphanet:46488/e", source="MONDO:equivalentTo", source="Orphanet:46488"} is_a: EFO:0008598 {source="Orphanet:46488"} ! autoimmune bullous skin disease property_value: closeMatch http://identifiers.org/meddra/10024515 property_value: exactMatch http://identifiers.org/mesh/D062027 property_value: exactMatch http://identifiers.org/snomedct/95330001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406650 property_value: exactMatch Orphanet:46488 property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009314 name: blood coagulation disease def: "A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood." [NCIT:C2902] def: "A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood. [ NCIt:C2902 ]" [] synonym: "blood coagulation disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Blood Coagulation Disorder" EXACT [] synonym: "blood coagulation disorder" EXACT [MESH:D001778] synonym: "clotting disorder" EXACT [] synonym: "Coagulation Defect" EXACT [] synonym: "coagulation defect" EXACT [NCIT:C2902] synonym: "Coagulation Disorder" EXACT [] synonym: "coagulation disorder" EXACT [NCIT:C2902] synonym: "Coagulation Disorder, Blood" EXACT [] synonym: "coagulation disorder, blood" EXACT [MESH:D001778] synonym: "Coagulation Disorders, Blood" EXACT [] synonym: "coagulation disorders, blood" EXACT [MESH:D001778] synonym: "Coagulopathy" EXACT [] synonym: "coagulopathy" EXACT [NCIT:C2902, Wikipedia:Coagulopathy] synonym: "Disorder, Blood Coagulation" EXACT [] synonym: "disorder, blood coagulation" EXACT [MESH:D001778] synonym: "Disorders, Blood Coagulation" EXACT [] synonym: "disorders, blood coagulation" EXACT [MESH:D001778] synonym: "excessive bleeding" EXACT [] synonym: "postpartum coagulation defect" EXACT [DOID:1247] synonym: "postpartum coagulation defect with delivery" EXACT [DOID:1247] xref: DOID:1247 {source="MONDO:equivalentTo"} xref: ICD10:D68 xref: ICD9:286 {source="DOID:1247"} xref: ICD9:286.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:287.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D001778 {source="DOID:1247", source="MONDO:equivalentTo"} xref: MeSH:D001778 xref: MONDO:0001531 xref: NCIT:C2902 {source="DOID:1247", source="MONDO:equivalentTo"} xref: NCIt:C2902 xref: SCTID:64779008 {source="DOID:1247", source="MONDO:equivalentTo"} xref: UMLS:C0005779 is_a: EFO:0005803 {source="DOID:1247", source="MESH:D001778", source="NCIT:C2902/inferred"} ! hematologic disease property_value: exactMatch DOID:1247 property_value: exactMatch http://identifiers.org/mesh/D001778 property_value: exactMatch http://identifiers.org/snomedct/64779008 property_value: exactMatch NCIT:C2902 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009315 name: thrombophilia def: "A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome." [NCIT:P378] def: "A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome. [ NCI ]" [] synonym: "Excessive Blood Clotting" EXACT [] synonym: "excessive blood clotting" EXACT [NCIT:C84479] synonym: "Hypercoagulability" EXACT [] synonym: "hypercoagulability" EXACT [NCIT:C84479] synonym: "Hypercoagulability State" EXACT [] synonym: "hypercoagulability state" EXACT [DOID:2452] synonym: "Hypercoagulable" EXACT [] synonym: "hypercoagulable" EXACT [NCIT:C84479] synonym: "thrombophilia" EXACT [] {comment="preferred label from MONDO"} xref: DOID:2452 {source="MONDO:equivalentTo"} xref: ICD9:286.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10057396 xref: MESH:D019851 {source="DOID:2452", source="MONDO:equivalentTo"} xref: MONDO:0002305 xref: NCIT:C84479 {source="DOID:2452", source="MONDO:equivalentTo"} xref: NCIt:C84479 xref: Orphanet:64738 {source="MONDO:equivalentObsolete"} xref: SCTID:234467004 {source="DOID:2452", source="MONDO:equivalentTo"} xref: UMLS:C0398623 {source="NCIT:C84479", source="DOID:2452", source="MONDO:equivalentTo"} is_a: EFO:0009314 {source="DOID:2452", source="NCIT:C84479"} ! blood coagulation disease property_value: exactMatch DOID:2452 property_value: exactMatch http://identifiers.org/mesh/D019851 property_value: exactMatch http://identifiers.org/snomedct/234467004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398623 property_value: exactMatch NCIT:C84479 property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009316 name: protein c deficiency def: "Protein C deficiency is a disorder that increases a person's risk to develop abnormal blood clots due to a deficiency of the Protein C, a protein in the body that prevents blood clotting. It may be inherited or acquired. [https://rarediseases.info.nih.gov/diseases/4521/protein-c-deficiency]" [] synonym: "protein C (PC) deficiency" EXACT [] synonym: "Protein C deficiency (PCD)" EXACT [] synonym: "Protein C Deficiency Disease" EXACT [] synonym: "Reduced protein C activity" EXACT [] xref: HP:0005543 xref: ICD10CM:D68.59 xref: MedDRA:10051298 xref: MeSH:D020151 xref: NCIt:C99025 xref: OMIM:176860 xref: SNOMEDCT:76407009 xref: UMLS:C0398625 is_a: EFO:0009315 ! thrombophilia property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009317 name: GM20431 def: "Lymphoblastoid cell line from B-lymphocyte of a Caucasian male as part of the Personal Genome Project." [] is_a: EFO:0005292 ! lymphoblastoid cell line relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM20431&Product=CC xsd:string property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009318 name: HFFc6 def: "Human foreskin fibroblast cell line immortalized by infection with retroviral constrcuts that expressed the hTERT open reading frame" [] synonym: "HFF-hTERT clone 6" EXACT [] is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation https://www.nature.com/articles/23962 xsd:string property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009319 name: F123-CASTx129 def: "Immortalized mouse embryonic stem cell line" [] synonym: "F123" EXACT [] is_a: EFO:0002887 ! mouse cell line is_a: EFO:0003040 ! embryonic cell line relationship: RO:0000086 PATO:0000384 ! has_quality male property_value: definition:citation https://www.ncbi.nlm.nih.gov/pmc/articles/PMC196021/ xsd:string property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009320 name: RUES2 def: "Human embryonic stem cell line from a female donor" [] is_a: EFO:0003040 ! embryonic cell line relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: definition:citation https://www.sciencedirect.com/science/article/pii/S1934590909003476?via%3Dihub xsd:string property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009321 name: diabetic macular edema def: "Characterized by build-up of fluid in and beneath the macula, affecting detailed central vision" [] synonym: "diabetic macular edema" EXACT [] {comment="preferred label from MONDO"} synonym: "DME" EXACT [] xref: DOID:9191 {source="MONDO:equivalentTo"} xref: ICD9:362.07 {source="DOID:9191", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10057934 xref: MONDO:0004728 xref: SCTID:312912001 {source="DOID:9191", source="MONDO:equivalentTo"} xref: UMLS:C0730285 {source="DOID:9191", source="MONDO:equivalentTo"} is_a: EFO:0003770 {source="DOID:9191"} ! diabetic retinopathy is_a: EFO:0010133 ! diabetic maculopathy property_value: definition:citation PMID:29739359 xsd:string property_value: exactMatch DOID:9191 property_value: exactMatch http://identifiers.org/snomedct/312912001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0730285 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009322 name: proliferative diabetic retinopathy def: "Advanced retinopathy due to diabetes mellitus characterized by the formation of new vessels in the retina. The new vessels are abnormal and fragile. If hemorrhage occurs due to the vascular fragility, there is increased risk of vision loss or blindness." [NCIT:P378] def: "Later stage of diabetic retinopathy, characterized by neovascularisation of the retina" [] synonym: "PDR" EXACT [] synonym: "proliferative diabetic retinopathy" EXACT [] {comment="preferred label from MONDO"} xref: DOID:13207 {source="MONDO:equivalentTo"} xref: ICD9:362.02 {source="DOID:13207", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10036857 xref: MONDO:0001660 xref: NCIT:C84457 {source="DOID:13207", source="MONDO:equivalentTo"} xref: SCTID:59276001 {source="DOID:13207", source="MONDO:equivalentTo"} xref: UMLS:C0154830 {source="NCIT:C84457", source="DOID:13207", source="MONDO:equivalentTo"} is_a: EFO:0003770 {source="DOID:13207", source="NCIT:C84457"} ! diabetic retinopathy property_value: definition:citation PMID:29739359 xsd:string property_value: exactMatch DOID:13207 property_value: exactMatch http://identifiers.org/snomedct/59276001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154830 property_value: exactMatch NCIT:C84457 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009323 name: alpha synuclein measurement def: "Quantification of alpha synuclein levels in the cerebrospinal fluid." [] synonym: "α-synuclein" EXACT [] xref: PMID:29959729 is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 EFO:0005772 ! is_about neurodegenerative disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009324 name: APOL1 risk genotype carrier status def: "Quantification of the presence of absence of the APOL1 risk genotype in an individual" [] xref: PMID:29885931 is_a: EFO:0007658 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! carrier status relationship: IAO:0000136 EFO:0003884 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! is_about chronic kidney disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009325 name: basal ganglia growth measurement def: "Quantification of any aspect of growth of the basal ganglia during development" [] xref: PMID:29682794 is_a: EFO:0009326 ! brain growth measurement relationship: IAO:0000136 GO:0007420 ! is_about brain development relationship: IAO:0000136 UBERON:0002420 ! is_about basal ganglion property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009326 name: brain growth measurement def: "Quantification of any aspect of the growth of the brain during development" [] xref: PMID:29682794 is_a: EFO:0004464 ! brain measurement relationship: IAO:0000136 GO:0007420 ! is_about brain development relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009327 name: cerebellum growth measurement def: "Quantification of any aspect of the growth of the cerebellum during development" [] xref: PMID:29682794 is_a: EFO:0009326 ! brain growth measurement relationship: IAO:0000136 GO:0007420 ! is_about brain development relationship: IAO:0000136 UBERON:0002037 ! is_about cerebellum property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009328 name: cerebral cortex growth measurement def: "Quantification of any aspect of growth of the cerebral cortex during development" [] xref: PMID:29682794 is_a: EFO:0009326 ! brain growth measurement relationship: IAO:0000136 GO:0007420 ! is_about brain development relationship: IAO:0000136 UBERON:0000956 ! is_about cerebral cortex property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009330 name: Chlamydia trachomatis seropositivity def: "Chlamydia trachomatis seropositivity is the result of a measurement of circulating C. trachomatis specific antibodies" [] xref: PMID:29967566 is_a: EFO:0006843 ! infectious disease biomarker is_a: EFO:0007034 ! seropositivity measurement relationship: IAO:0000136 EFO:0007205 ! is_about Chlamydia trachomatis infectious disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009331 name: erosive tooth wear measurement def: "Quantification of some aspect of erosive tooth wear. Erosive tooth wear is a condition where non-bacterial acids dissolve and soften the tooth surface, thus exposing the tooth to mechanical forces." [] xref: PMID:29898447 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:1001216 ! is_about tooth disease relationship: IAO:0000136 UBERON:0001091 ! is_about calcareous tooth property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009332 name: executive function measurement def: "Quantification of executive function in an individual, for example using the Behavioural Rating Inventory of Executive Function (BRIEF). Tests of executive function may be performed as part of a more comprehensive assessment to diagnose neurological and psychiatric disorders." [] xref: PMID:29769613 is_a: EFO:0004464 ! brain measurement is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0003758 ! is_about autism relationship: IAO:0000136 EFO:0003761 ! is_about unipolar depression relationship: IAO:0000136 EFO:0003888 ! is_about attention deficit hyperactivity disorder relationship: IAO:0000136 EFO:0006788 ! is_about anxiety disorder relationship: IAO:0000136 EFO:0007046 ! is_about executive function relationship: IAO:0000136 MONDO:0004985 ! is_about bipolar disorder relationship: IAO:0000136 MONDO:0005090 ! is_about schizophrenia relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009334 name: prefrontal cortex growth measurement def: "Quantification of any aspect of growth of the prefrontal cortex during development" [] xref: PMID:29682794 is_a: EFO:0009326 ! brain growth measurement relationship: IAO:0000136 GO:0007420 ! is_about brain development relationship: IAO:0000136 UBERON:0000451 ! is_about prefrontal cortex property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009335 name: white matter growth measurement def: "Quantification of any aspect of growth of the white matter during development" [] xref: PMID:29682794 is_a: EFO:0009326 ! brain growth measurement relationship: IAO:0000136 GO:0007420 ! is_about brain development relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009336 name: velopharyngeal dysfunction def: "Velopharyngeal dysfunction (VPD) occurs when the muscular soft palate (velum) and lateral pharyngeal walls are physically unable to separate the oral and nasal cavities during speech production leading\nto hypernasality and abnormal speech reduction." [] synonym: "VPD" EXACT [] is_a: HP:0000153 ! Abnormality of the mouth property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009337 name: cell size selection def: "filtering process that either includes or excludes cells of a certain diameter using a physical filter" [] is_a: EFO:0009106 ! sample enrichment property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009338 name: Epstein-Barr virus early antigen seropositivity def: "The result of a measurement of circulating Epstein-Barr virus early antigen-specific antibodies" [] synonym: "EBV-EA seropositivity" EXACT [] xref: PMID:30053915 is_a: EFO:0006843 ! infectious disease biomarker is_a: EFO:0007034 ! seropositivity measurement relationship: IAO:0000136 EFO:0000769 ! is_about Epstein-Barr virus infection property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009339 name: Herpes simplex virus 2 seropositivity def: "The result of a measurement of circulating Herpes simplex virus 2-specific antibodies" [] synonym: "HSV2 seropositivity" EXACT [] xref: PMID:30053915 is_a: EFO:0006843 ! infectious disease biomarker is_a: EFO:0007034 ! seropositivity measurement relationship: IAO:0000136 EFO:1002022 ! is_about Herpes simplex infection property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009340 name: Varicella zoster virus seropositivity def: "The result of a measurement of circulating Varicella zoster virus-specific antibodies" [] synonym: "VZV seropositivity" EXACT [] xref: PMID:30053915 is_a: EFO:0006843 ! infectious disease biomarker is_a: EFO:0007034 ! seropositivity measurement relationship: IAO:0000136 EFO:0006509 ! is_about Varicella Zoster infection property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009341 name: Helicobacter pylori seropositivity def: "The result of a measurement of circulating Helicobacter pylori-specific antibodies" [] xref: PMID:30053915 is_a: EFO:0006843 ! infectious disease biomarker is_a: EFO:0007034 ! seropositivity measurement relationship: IAO:0000136 EFO:1000961 ! is_about Helicobacter pylori infectious disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009342 name: Measles virus seropositivity def: "The result of a measurement of circulating Measles virus-specific antibodies" [] xref: PMID:30053915 is_a: EFO:0006843 ! infectious disease biomarker is_a: EFO:0007034 ! seropositivity measurement relationship: IAO:0000136 EFO:1002025 ! is_about measles property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009343 name: Mumps virus seropositivity def: "The result of a measurement of circulating Mumps virus-specific antibodies" [] xref: PMID:30053915 is_a: EFO:0006843 ! infectious disease biomarker is_a: EFO:0007034 ! seropositivity measurement relationship: IAO:0000136 EFO:0007383 ! is_about Mumps virus infectious disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009344 name: Rubella virus seropositivity def: "The result of a measurement of circulating Rubella virus-specific antibodies" [] xref: PMID:30053915 is_a: EFO:0006843 ! infectious disease biomarker is_a: EFO:0007034 ! seropositivity measurement relationship: IAO:0000136 EFO:1002026 ! is_about rubella property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009345 name: Hepatitis B virus surface antigen seropositivity def: "The result of a measurement of circulating Hepatitis B virus surface antigen-specific antibodies" [] synonym: "HBs seropositivity" EXACT [] xref: PMID:30053915 is_a: EFO:0006843 ! infectious disease biomarker is_a: EFO:0007034 ! seropositivity measurement relationship: IAO:0000136 EFO:0004197 ! is_about hepatitis B virus infection property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009346 name: Hepatitis B virus core antigen seropositivity def: "The result of a measurement of circulating Hepatitis B virus core antigen-specific antibodies" [] synonym: "HBc seropositivity" EXACT [] xref: PMID:30053915 is_a: EFO:0006843 ! infectious disease biomarker is_a: EFO:0007034 ! seropositivity measurement relationship: IAO:0000136 EFO:0004197 ! is_about hepatitis B virus infection property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009347 name: Anti-cytomegalovirus IgG measurement def: "Quantification of the IgG antibody isotype produced in response to cytomegalovirus infection" [] synonym: "CMV IgG measurement" EXACT [] xref: PMID:30053915 is_a: EFO:0004565 ! serum IgG measurement is_a: EFO:0006843 ! infectious disease biomarker relationship: IAO:0000136 EFO:0001062 ! is_about cytomegalovirus infection property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009348 name: Anti-Epstein-Barr virus early antigen IgG measurement def: "Quantification of antibodies to the Epstein-Barr virus early antigen" [] synonym: "EBV-EA IgG measurement" EXACT [] xref: PMID:30053915 is_a: EFO:0004565 ! serum IgG measurement is_a: EFO:0006843 ! infectious disease biomarker relationship: IAO:0000136 EFO:0000769 ! is_about Epstein-Barr virus infection property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009349 name: Anti-herpes simplex virus 1 IgG measurement def: "Quantification of the IgG antibody isotype produced in response to herpes simplex virus 1 infection" [] synonym: "HSV1 IgG measurement" EXACT [] xref: PMID:30053915 is_a: EFO:0004565 ! serum IgG measurement is_a: EFO:0006843 ! infectious disease biomarker relationship: IAO:0000136 EFO:1002022 ! is_about Herpes simplex infection property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009350 name: Anti-herpes simplex virus 2 IgG measurement def: "Quantification of the IgG antibody isotype produced in response to herpes simplex virus 2 infection" [] synonym: "HSV2 IgG measurement" EXACT [] xref: PMID:30053915 is_a: EFO:0004565 ! serum IgG measurement is_a: EFO:0006843 ! infectious disease biomarker relationship: IAO:0000136 EFO:1002022 ! is_about Herpes simplex infection property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009351 name: Anti-varicella zoster virus IgG measurement def: "Quantification of the IgG antibody isotype produced in response to varicella zoster virus infection" [] synonym: "VZV IgG measurement" EXACT [] xref: PMID:30053915 is_a: EFO:0004565 ! serum IgG measurement is_a: EFO:0006843 ! infectious disease biomarker relationship: IAO:0000136 EFO:0006509 ! is_about Varicella Zoster infection property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009352 name: Anti-Helicobacter pylori IgG measurement def: "Quantification of the IgG antibody isotype produced in response to Helicobacter pylori infection" [] xref: PMID:30053915 is_a: EFO:0004565 ! serum IgG measurement is_a: EFO:0006843 ! infectious disease biomarker relationship: IAO:0000136 EFO:1000961 ! is_about Helicobacter pylori infectious disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009353 name: Anti-Toxoplasma gondii IgG measurement def: "Quantification of the IgG antibody isotype produced in response to Toxoplasma gondii infection" [] xref: PMID:30053915 is_a: EFO:0004565 ! serum IgG measurement is_a: EFO:0006843 ! infectious disease biomarker relationship: IAO:0000136 EFO:0007517 ! is_about toxoplasmosis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009354 name: Anti-influenza A virus IgG measurement def: "Quantification of the IgG antibody isotype produced in response to influenza A virus infection" [] xref: PMID:30053915 is_a: EFO:0004565 ! serum IgG measurement is_a: EFO:0006841 ! respiratory disease biomarker is_a: EFO:0006843 ! infectious disease biomarker relationship: IAO:0000136 EFO:0007328 ! is_about influenza property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009355 name: Anti-measles virus IgG measurement def: "Quantification of the IgG antibody isotype produced in response to measles virus infection" [] xref: PMID:30053915 is_a: EFO:0004565 ! serum IgG measurement is_a: EFO:0006843 ! infectious disease biomarker relationship: IAO:0000136 EFO:1002025 ! is_about measles property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009356 name: Anti-mumps virus IgG measurement def: "Quantification of the IgG antibody isotype produced in response to mumps virus infection" [] xref: PMID:30053915 is_a: EFO:0004565 ! serum IgG measurement is_a: EFO:0006843 ! infectious disease biomarker relationship: IAO:0000136 EFO:0007383 ! is_about Mumps virus infectious disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009357 name: Anti-rubella virus IgG measurement def: "Quantification of the IgG antibody isotype produced in response to rubella virus infection" [] xref: PMID:30053915 is_a: EFO:0004565 ! serum IgG measurement is_a: EFO:0006843 ! infectious disease biomarker relationship: IAO:0000136 EFO:1002026 ! is_about rubella property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009358 name: Anti-hepatitis B virus surface antigen IgG measurement def: "Quantification of antibodies to the hepatitis B virus surface antigen" [] synonym: "HBs IgG measurement" EXACT [] xref: PMID:30053915 is_a: EFO:0004565 ! serum IgG measurement is_a: EFO:0006843 ! infectious disease biomarker relationship: IAO:0000136 EFO:0004197 ! is_about hepatitis B virus infection property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009359 name: Anti-hepatitis B virus core antigen IgG measurement def: "Quantification of antibodies to the hepatitis B virus core antigen" [] synonym: "HBc IgG measurement" EXACT [] xref: PMID:30053915 is_a: EFO:0004565 ! serum IgG measurement is_a: EFO:0006843 ! infectious disease biomarker relationship: IAO:0000136 EFO:0004197 ! is_about hepatitis B virus infection property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009360 name: eyelid sagging measurement def: "Quantification of the excess eyelid skin that generally occurs in middle-aged or elderly persons, or as a result of genetic disorder such as cutis laxa or Ehlers-Danlos syndrome. Quantification is typically a visual grading by a dermatologist." [] synonym: "blepharoptosis measurement" EXACT [] synonym: "dermatochalasis measurement" EXACT [] xref: PMID:29654602 is_a: EFO:0010949 ! upper face morphology measurement relationship: IAO:0000136 HP:0010750 ! is_about Dermatochalasis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009361 name: colorectal mucinous adenocarcinoma def: "An invasive colorectal adenocarcinoma characterized by the presence of extracellular mucin pools that contain malignant glandular epithelial structures. The extracellular mucin pools occupy more than 50% of the malignant lesion." [] xref: NCIt:C43585 is_a: EFO:0000365 ! colorectal adenocarcinoma is_a: EFO:0004288 ! colonic neoplasm property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009362 name: nicotine withdrawal measurement def: "Quantification of measure of nicotine withdrwawal." [] xref: PMID:29532581 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009363 name: chronic central serous retinopathy def: "The chronic form of central serous retinopathy. Patients with the chronic form have prolonged presence of fluid with progressive loss of vision and reduced quality of life." [] synonym: "chronic central serous chorioretinopathy" EXACT [] synonym: "type II central serous retinopathy" EXACT [] xref: Wikipedia:Central_serous_retinopathy is_a: EFO:0009714 ! chronic disease is_a: EFO:0009784 ! central serous retinopathy relationship: has_modifier HP:0011010 ! Chronic property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009364 name: non-allergic rhinitis def: "Nonallergic rhinitis has the same symptoms as allergic rhinitis, but in the absence of allergic sensitization, typically evaluated by measurement of specific IgEs or skin-prick test against a range of allergens." [] synonym: "nonallergic rhinitis" EXACT [] is_a: EFO:0008521 ! rhinitis property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009365 name: vaginal discharge def: "Normal or abnormal secretions from the vagina." [] xref: MedDRA:10046901 is_a: EFO:0005757 ! vaginal inflammation property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0009366 name: quality of life during menstruation measurement def: "A measure to assess quality of life (QOL) based on how the individual has felt during the menstrual period." [] xref: PMID:29855537 is_a: EFO:0011014 ! health-related quality of life measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0009367 name: glucose metabolism measurement def: "Quantification of a glucose metabolic process." [] xref: PMID:29130521 is_a: EFO:0006514 ! Alzheimer's disease biomarker measurement relationship: IAO:0000136 MONDO:0004975 ! is_about Alzheimer disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0009368 name: factor VII activating protease measurement def: "Quantification of the amount of factor VII activating protease in a blood sample" [] synonym: "Factor seven-activating protease measurement" EXACT [] synonym: "FSAP measurement" EXACT [] synonym: "Hepatocyte growth factor activator-like protein measurement" EXACT [] synonym: "Hyaluronan-binding protein 2 measurement" EXACT [] synonym: "Plasma hyaluronan-binding protein measurement" EXACT [] xref: PMID:30070759 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009369 name: diffusing capacity of the lung for carbon monoxide def: "A measurement of carbon monoxide (CO) transfer from inspired gas to pulmonary capillary blood. During the test, the subject inspires a gas containing CO and one or more tracer gases to allow determination of the gas exchanging capability of the lungs." [] synonym: "carbon monoxide diffusing capacity" EXACT [] synonym: "pulmonary diffusing capacity" EXACT [] synonym: "transfer factor of the lung for carbon monoxide" EXACT [] xref: PMID:30049742 is_a: EFO:0003892 ! pulmonary function measurement is_a: EFO:0006841 ! respiratory disease biomarker relationship: IAO:0000136 EFO:0000341 ! is_about chronic obstructive pulmonary disease relationship: IAO:0000136 EFO:0004244 ! is_about interstitial lung disease relationship: IAO:0000136 MONDO:0004979 ! is_about asthma relationship: IAO:0000136 UBERON:0002048 ! is_about lung property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009370 name: radon exposure measurement def: "Quantification of some aspect of exposure to radon gas" [] xref: PMID:29971594 is_a: EFO:0008360 ! environmental exposure measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009371 name: ketogenic diet def: "A high-fat, adequate-protein, low-carbohydrate diet. It is primarily used in medicine to treat difficult-to-control epilepsy in children." [] is_a: EFO:0002755 ! diet property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0009372 name: response to ketogenic diet def: "The physiological response of an organism to being fed a ketogenic diet." [] is_a: EFO:0005844 ! response to dietary antigen property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0009373 name: edema def: "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body." [] synonym: "Dropsy" EXACT [] synonym: "Fluid retention" EXACT [] synonym: "Hydrops" EXACT [] synonym: "Oedema" EXACT [] synonym: "Water retention" EXACT [] xref: HP:0000969 xref: ICD10:R60 xref: MedDRA:10014210 is_a: EFO:0000701 ! skin disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0009374 name: energy intake measurement def: "Quantification of the energy intake of an individual, e.g. based on a food frequency questionnaire or seven-day food record and assessment of the calorific content of the food types and portion sizes recorded." [] xref: PMID:30071075 is_a: EFO:0008111 ! diet measurement relationship: IAO:0000136 EFO:0003939 ! is_about energy intake property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009375 name: 184-hTERT def: "Telomerase-immortalized human breast epithelial cell line." [] xref: https://orcid.org/0000-0001-9203-6323 xref: https://web.expasy.org/cellosaurus/CVCL_K053 xref: PMID:17395154 is_a: EFO:0001190 ! HMEC184 created_by: paolaroncaglia creation_date: 2018-10-17T10:28:42Z [Term] id: EFO:0009380 name: facial neuralgia def: "Neuralgic syndromes which feature chronic or recurrent facial pain as the primary manifestation of disease. Disorders of the trigeminal and facial nerves are frequently associated with these conditions." [MESH:D005156] def: "Neuralgic syndromes which feature chronic or recurrent facial pain as the primary manifestation of disease. Disorders of the trigeminal and facial nerves are frequently associated with these conditions. [ MeSH:D005156 ]" [] synonym: "facial nerve neuralgia" EXACT [MONDO:patterns/location] synonym: "facial neuralgia" EXACT [] {comment="preferred label from MONDO"} synonym: "neuralgia of facial nerve" EXACT [MONDO:design_pattern] xref: DOID:13865 {source="MONDO:equivalentTo"} xref: ICD10:351.8 xref: ICD10:G51.9 xref: ICD9:351.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10061594 xref: MESH:D005156 {source="DOID:13865", source="MONDO:equivalentTo"} xref: MeSH:D005156 xref: MONDO:0001818 xref: SCTID:4151000119102 {source="DOID:13865", source="MONDO:equivalentTo"} is_a: EFO:1002051 {source="DOID:13865", source="MESH:D005156", source="MONDO:Redundant"} ! facial nerve disease is_a: MONDO:0016374 ! cranial neuralgia property_value: exactMatch DOID:13865 property_value: exactMatch http://identifiers.org/mesh/D005156 property_value: exactMatch http://identifiers.org/snomedct/4151000119102 [Term] id: EFO:0009381 name: fibroblast growth factor 23 measurement def: "Quantification of the amount of fibroblast growth factor 23 in a sample" [] synonym: "FGF23 measurement" EXACT [] xref: PMID:30217807 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 GO:0055062 ! is_about phosphate ion homeostasis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009382 name: metabolically healthy obesity def: "Long-standing obesity without metbolic abnormalities or obesity-related comorbidities such as type 2 diabetes or heart disease" [] synonym: "metabolically normal subgroup of obese" EXACT [] xref: Wikipedia:Metabolically_healthy_obesity is_a: EFO:0001073 ! obesity property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009383 name: tumoral calcinosis, hyperphosphatemic, familial, 2 synonym: "HFTC2" RELATED ABBREVIATION [OMIM:617993] synonym: "tumoral calcinosis, hyperphosphatemic, familial, 2" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "tumoral calcinosis, hyperphosphatemic, familial, 2" EXACT [OMIM:617993] synonym: "tumoral calcinosis, hyperphosphatemic, familial, 2" EXACT [] {comment="preferred label from MONDO"} synonym: "tumoral calcinosis, hyperphosphatemic, familial, 2" RELATED [OMIM:617993] xref: MONDO:0060714 xref: OMIM:617993 {source="MONDO:equivalentTo"} is_a: EFO:0003820 ! bone neoplasm is_a: EFO:0009385 {source="OMIM:617993"} ! familial tumoral calcinosis is_a: MONDO:0023603 ! hereditary disorder of connective tissue is_a: MONDO:0800084 {source="PMID:31633310"} ! primary bone dysplasia with increased bone density is_a: Orphanet:306661 ! familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome property_value: exactMatch http://identifiers.org/omim/617993 property_value: exactMatch https://omim.org/entry/617993 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: EFO:0009384 name: tumoral calcinosis, hyperphosphatemic, familial, 3 synonym: "HFTC3" RELATED ABBREVIATION [OMIM:617994] synonym: "tumoral calcinosis, hyperphosphatemic, familial, 3" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "tumoral calcinosis, hyperphosphatemic, familial, 3" EXACT [OMIM:617994] synonym: "tumoral calcinosis, hyperphosphatemic, familial, 3" EXACT [] {comment="preferred label from MONDO"} synonym: "tumoral calcinosis, hyperphosphatemic, familial, 3" RELATED [OMIM:617994] xref: MONDO:0060715 xref: OMIM:617994 {source="MONDO:equivalentTo"} is_a: EFO:0003820 ! bone neoplasm is_a: EFO:0009385 {source="OMIM:617994"} ! familial tumoral calcinosis is_a: MONDO:0023603 ! hereditary disorder of connective tissue is_a: MONDO:0800084 {source="PMID:31633310"} ! primary bone dysplasia with increased bone density is_a: Orphanet:306661 ! familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome property_value: exactMatch http://identifiers.org/omim/617994 property_value: exactMatch https://omim.org/entry/617994 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: EFO:0009385 name: familial tumoral calcinosis def: "Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." [] def: "Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis." [Orphanet:53715] subset: gard_rare {source="GARD:0010877"} subset: ordo_disease {source="Orphanet:53715"} synonym: "familial tumoral calcinosis" EXACT [] {comment="preferred label from MONDO"} xref: MedDRA:10059364 {source="Orphanet:53715", source="Orphanet:53715/e"} xref: MONDO:0018891 xref: Orphanet:53715 {source="MONDO:equivalentTo"} is_a: EFO:0003769 {source="MONDO:Redundant", source="Orphanet:53715"} ! endocrine neoplasm is_a: MONDO:0002123 {source="https://orcid.org/0000-0001-5208-3432"} ! calcinosis is_a: MONDO:0015950 {source="Orphanet:53715"} ! inherited skin tumor is_a: MONDO:0019052 ! inborn errors of metabolism is_a: Orphanet:68336 ! Rare genetic tumor property_value: closeMatch http://identifiers.org/meddra/10059364 property_value: exactMatch Orphanet:53715 property_value: excluded_subClassOf MONDO:0019300 {source="Orphanet:53715"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10877/familial-tumoral-calcinosis xsd:anyURI {source="GARD:0010877"} [Term] id: EFO:0009386 name: central nervous system disease def: "A disease involving the central nervous system." [https://orcid.org/0000-0002-6601-2165] subset: rare_grouping synonym: "central nervous disease" EXACT [DOID:331] synonym: "central nervous system disease" EXACT [MONDO:patterns/location, NCIT:C2934] synonym: "central nervous system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "central nervous system disorder" EXACT [NCIT:C2934] synonym: "central nervous system disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "CNS disorder" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "disease of central nervous system" EXACT [MONDO:patterns/location_top] synonym: "disease of the central nervous system" EXACT [ISBN-13:978-1-259-64403-0] synonym: "disease or disorder of central nervous system" EXACT [] synonym: "disorder of central nervous system" EXACT [MONDO:patterns/location_top, NCIT:C2934] xref: DOID:331 {source="MONDO:equivalentTo"} xref: ICD10:G09 xref: MESH:D002493 {source="MONDO:equivalentTo", source="DOID:331"} xref: MONDO:0002602 xref: NCIT:C2934 {source="MONDO:equivalentTo", source="DOID:331"} xref: NCIt:C2934 xref: SCTID:23853001 {source="MONDO:equivalentTo", source="DOID:331"} xref: UMLS:C0007682 {source="NCIT:C2934", source="MONDO:equivalentTo", source="DOID:331"} is_a: EFO:0000618 {source="DOID:331", source="MESH:D002493", source="MONDO:Redundant", source="NCIT:C2934"} ! nervous system disease property_value: exactMatch DOID:331 property_value: exactMatch http://identifiers.org/mesh/D002493 property_value: exactMatch http://identifiers.org/snomedct/23853001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007682 property_value: exactMatch NCIT:C2934 [Term] id: EFO:0009387 name: peripheral nervous system disease def: "A disease involving the peripheral nervous system." [https://orcid.org/0000-0002-6601-2165] subset: rare_grouping synonym: "disease of peripheral nervous system" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of peripheral nervous system" EXACT [] synonym: "disorder of peripheral nervous system" EXACT [MONDO:patterns/location_top, NCIT:C27580] synonym: "disorder of the peripheral nervous system" EXACT [] synonym: "nerve disease, peripheral" NARROW [MESH:D010523] synonym: "nerve diseases, peripheral" NARROW [MESH:D010523] synonym: "neuropathy, peripheral" NARROW [MESH:D010523] synonym: "peripheral nerve disease" NARROW [DOID:574, MESH:D010523, MTH:516, NCIT:C27580] synonym: "peripheral nerve diseases" NARROW [MESH:D010523] synonym: "peripheral nerve disorder" EXACT [] synonym: "peripheral nervous system disease" EXACT [MESH:D010523, MONDO:patterns/location, NCIT:C27580] synonym: "peripheral nervous system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "peripheral nervous system disorder" EXACT [NCIT:C27580] synonym: "peripheral nervous system disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "peripheral nervous system disorders" EXACT [MESH:D010523] synonym: "peripheral Neuropathies" NARROW [MESH:D010523] synonym: "peripheral neuropathy" NARROW [DOID:574, MESH:D010523] synonym: "PNS (peripheral nervous system) diseases" EXACT [MESH:D010523] synonym: "PNS disease" EXACT [MESH:D010523] synonym: "PNS diseases" EXACT [MESH:D010523] xref: DOID:574 {source="MONDO:equivalentTo"} xref: ICD10:G64 xref: ICD9:350-359.99 {source="DOID:574"} xref: ICD9:356.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D010523 {source="MONDO:equivalentTo", source="DOID:574"} xref: MONDO:0003620 xref: NCIT:C27580 {source="MONDO:equivalentTo", source="DOID:574"} xref: SCTID:42658009 {source="MONDO:equivalentTo", source="DOID:574"} is_a: EFO:0000618 {source="DOID:574", source="MESH:D010523/inferred", source="MONDO:Redundant", source="NCIT:C27580"} ! nervous system disease property_value: exactMatch DOID:574 property_value: exactMatch http://identifiers.org/mesh/D010523 property_value: exactMatch http://identifiers.org/snomedct/42658009 property_value: exactMatch NCIT:C27580 [Term] id: EFO:0009388 name: sum of basophil and neutrophil counts def: "Sum of quantification of basophil and neutrophil in the blood." [] xref: PMID:27863252 is_a: EFO:0007987 ! granulocyte count relationship: IAO:0000136 EFO:0001941 ! is_about blood component property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0009389 name: sum of eosinophil and basophil counts def: "Sum of quantification of eosinophil and basophil in the blood." [] xref: PMID:27863252 is_a: EFO:0007987 ! granulocyte count relationship: IAO:0000136 EFO:0001941 ! is_about blood component property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0009390 name: sum of neutrophil and eosinophil counts def: "Sum of quantification of neutrophils and eosinophils in the blood." [] xref: PMID:27863252 is_a: EFO:0007987 ! granulocyte count relationship: IAO:0000136 EFO:0001941 ! is_about blood component property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0009391 name: response to tamoxifen def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of tamoxifen stimulus. Tamoxifen is a hormonal therapy drug primarily used to treat breast cancer." [] is_a: GO:0097327 ! response to antineoplastic agent relationship: OBI:0000293 CHEBI:41774 ! has_input tamoxifen property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009392 name: glucose metabolism decline measurement def: "quantification of a reduction in glucose metabolism." [] is_a: EFO:0009367 ! glucose metabolism measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Maria Cerezo" xsd:string [Term] id: EFO:0009393 name: breast pressure measurement def: "Change in pressure of the breast." [] is_a: EFO:0004884 ! breast size property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Maria Cerezo" xsd:string [Term] id: EFO:0009394 name: hippocampal CA1 volume def: "Volume of hippocampal CA1, which is the part of hippocampus proper bounded by CA2 and the subiculum, characterized by pyramidal neurons that receive projections from pyramidal neurons of CA3 via the Schaffer collaterals." [] is_a: EFO:0005035 ! hippocampal volume relationship: IAO:0000136 UBERON:0003881 ! is_about CA1 field of hippocampus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Maria Cerezo" xsd:string [Term] id: EFO:0009395 name: hippocampal CA3 volume def: "Volume of hippocampal CA3, which is the part of hippocampus proper bounded by the hilus of the dentate gyrus and area CA2, characterized by large pyramidal cells and a dense projection from dentate gyrus granule cell mossy fibers." [] is_a: EFO:0005035 ! hippocampal volume relationship: IAO:0000136 UBERON:0003883 ! is_about CA3 field of hippocampus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Maria Cerezo" xsd:string [Term] id: EFO:0009396 name: hippocampal CA4 volume def: "Volume of hippocampal CA4." [] is_a: EFO:0005035 ! hippocampal volume relationship: IAO:0000136 UBERON:0003884 ! is_about CA4 field of hippocampus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Maria Cerezo" xsd:string [Term] id: EFO:0009397 name: hippocampus molecular layer volume def: "Volume of hippocampus molecular layer." [] is_a: EFO:0005035 ! hippocampal volume property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Maria Cerezo" xsd:string [Term] id: EFO:0009398 name: hippocampal tail volume def: "Volume of hippocampal tail." [] is_a: EFO:0005035 ! hippocampal volume property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Maria Cerezo" xsd:string [Term] id: EFO:0009399 name: subiculum volume def: "Volume of subiculum region in hippocampus." [] is_a: EFO:0005035 ! hippocampal volume property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Maria Cerezo" xsd:string [Term] id: EFO:0009400 name: presubiculum volume def: "Volume of subiculum region in hippocampus." [] is_a: EFO:0005035 ! hippocampal volume property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Maria Cerezo" xsd:string [Term] id: EFO:0009401 name: hippocampal amigdala transition area volume def: "Volume of hippocampal amigdala transition area." [] is_a: EFO:0005035 ! hippocampal volume property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Maria Cerezo" xsd:string [Term] id: EFO:0009402 name: hippocampus fimbria volume def: "Volume of hippocampus fimbria volume." [] is_a: EFO:0005035 ! hippocampal volume property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Maria Cerezo" xsd:string [Term] id: EFO:0009403 name: granule cell layer dentate gyrus volume def: "Volume of granule cell layer dentate gyrus volume." [] is_a: EFO:0010083 ! dentate gyrus volume measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Maria Cerezo" xsd:string [Term] id: EFO:0009404 name: hippocampal fissure volume def: "Volume of hippocampal fissure volume." [] is_a: EFO:0005035 ! hippocampal volume property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Maria Cerezo" xsd:string [Term] id: EFO:0009405 name: parasubiculum volume def: "Volume of parasubiculum volume." [] is_a: EFO:0005035 ! hippocampal volume property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Maria Cerezo" xsd:string [Term] id: EFO:0009406 name: glucose metabolism disease def: "A metabolic disorder characterized by abnormal blood glucose levels." [NCIT:P378] synonym: "disorder of glucose metabolism" EXACT [NCIT:C53655] synonym: "glucose metabolism disease" EXACT [] {comment="preferred label from MONDO"} synonym: "glucose metabolism disorder" EXACT [NCIT:C53655] xref: DOID:4194 {source="MONDO:equivalentTo"} xref: ICD9:271.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D044882 {source="MONDO:equivalentTo", source="DOID:4194"} xref: MONDO:0002908 xref: NCIT:C53655 {source="MONDO:equivalentTo", source="DOID:4194"} xref: SCTID:126877002 {source="MONDO:equivalentTo", source="DOID:4194"} xref: UMLS:C1257958 {source="MONDO:equivalentTo", source="DOID:4194", source="NCIT:C53655"} is_a: EFO:0000589 {source="DOID:4194/inferred", source="MESH:D044882", source="MONDO:Redundant", source="NCIT:C53655/inferred"} ! metabolic disease property_value: exactMatch DOID:4194 property_value: exactMatch http://identifiers.org/mesh/D044882 property_value: exactMatch http://identifiers.org/snomedct/126877002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1257958 property_value: exactMatch NCIT:C53655 [Term] id: EFO:0009408 name: abnormal vaginal discharge smell def: "A deviation from the normal odor of the vaginal discharge." [] is_a: EFO:0009365 ! vaginal discharge property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Maria Cerezo" xsd:string [Term] id: EFO:0009409 name: abnormal vaginal discharge itching def: "Itching in the vagina from abnormal discharge." [] is_a: EFO:0009365 ! vaginal discharge property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Maria Cerezo" xsd:string [Term] id: EFO:0009410 name: uterine fibroid measurement def: "Quantification of some aspect of uterine fibroids, such as the number, volume or dimensions." [] xref: PMID:30196971 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:0000731 ! is_about uterine fibroid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009411 name: CCL13 measurement def: "Quantification of the amount of CCL13 protein in a sample." [] synonym: "CC motif chemokine 13 measurement" EXACT [] synonym: "MCP4 measurement" EXACT [] synonym: "monocyte chemotactic protein-4 measurement" EXACT [] xref: PMID:30134952 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009412 name: interleukin-1 alpha measurement def: "Quantification of the amount of interleukin 1-alpha protein in a sample." [] synonym: "IL1A measurement" EXACT [] xref: PMID:30134952 is_a: EFO:0004873 ! cytokine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009413 name: CCL15 measurement def: "Quantification of the amount of CCL15 protein in a sample." [] synonym: "CC motif chemokine 15 measurement" EXACT [] synonym: "macrophage inflammatory protein 1-delta measurement" EXACT [] synonym: "MIP1D measurement" EXACT [] xref: PMID:30134952 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009414 name: CCL17 measurement def: "Quantification of the amount of CCL17 protein in a sample." [] synonym: "CC motif chemokine 17 measurement" EXACT [] synonym: "TARC measurement" EXACT [] synonym: "thymus and activation regulated chemokine measurement" EXACT [] xref: PMID:30134952 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009415 name: CCL19 measurement def: "Quantification of the amount of CCL19 protein in a sample." [] synonym: "CC motif chemokine 19 measurement" EXACT [] synonym: "macrophage inflammatory protein 3 beta measurement" EXACT [] synonym: "MIP3B measurement" EXACT [] xref: PMID:30134952 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009416 name: CCL21 measurement def: "Quantification of the amount of CCL21 protein in a sample." [] synonym: "CC motif chemokine 21 measurement" EXACT [] xref: PMID:30134952 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009417 name: CCL23 measurement def: "Quantification of the amount of CCL23 protein in a sample." [] synonym: "CC motif chemokine 23 measurement" EXACT [] synonym: "MPIF1 measurement" EXACT [] synonym: "myeloid progenitor inhibitory factor 1 measurement" EXACT [] xref: PMID:30134952 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009418 name: CCL24 measurement def: "Quantification of the amount of CCL24 protein in a sample." [] synonym: "CC motif chemokine 24 measurement" EXACT [] synonym: "eotaxin-2 measurement" EXACT [] xref: PMID:30134952 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009419 name: CX3CL1 measurement def: "Quantification of the amount of CX3CL1 protein in a sample." [] synonym: "C-X3-C motif chemokine 1 measurement" EXACT [] synonym: "fractalkine measurement" EXACT [] synonym: "neurotactin measurement" EXACT [] xref: PMID:30134952 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009420 name: CXCL12 measurement def: "Quantification of the amount of CXCL12 protein in a sample." [] synonym: "SDF-1 measurement" EXACT [] synonym: "stromal cell-derived factor 1 measurement" EXACT [] xref: PMID:30134952 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009421 name: CXCL13 measurement def: "Quantification of the amount of CXCL13 protein in a sample." [] synonym: "B cell-attracting chemokine 1 measurement" EXACT [] synonym: "BCA-1 measurement" EXACT [] synonym: "C-X-C motif chemokine 13 measurement" EXACT [] xref: PMID:30134952 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009422 name: CXCL5 measurement def: "Quantification of the amount of CXCL5 protein in a sample." [] synonym: "C-X-C motif chemokine 5" EXACT [] synonym: "ENA78 measurement" EXACT [] synonym: "epithelial-derived neutrophil-activating peptide 78 measurement" EXACT [] xref: PMID:30134952 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009423 name: CXCL6 measurement def: "Quantification of the amount of CXCL6 protein in a sample." [] synonym: "C-X-C motif chemokine 6" EXACT [] synonym: "GCP-5 measurement" EXACT [] synonym: "granulocyte chemotactic protein 2 measurement" EXACT [] xref: PMID:30134952 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009424 name: Yersinia enterocolitica infectious disease def: "Infections with bacteria of the species Yersinia enterocolitica." [] synonym: "infection by Yersinia enterocolitica" EXACT [] synonym: "infection caused by Yersinia enterocolitica" RELATED [] synonym: "Yersinia enterocolitica infection" EXACT [] synonym: "Yersinia enterocolitica infectious disease" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0042370 xref: SCTID:80960004 {source="MONDO:equivalentTo"} is_a: EFO:1001245 ! Yersinia infectious disease property_value: exactMatch http://identifiers.org/snomedct/80960004 [Term] id: EFO:0009425 name: Yersinia pestis infectious disease def: "Infections with bacteria of the species Yersinia pestis." [] def: "Plague is a severe bacterial infection caused by the gram-negative bacterium Yersinia pestis." [Orphanet:707] subset: ordo_disease {source="Orphanet:707"} synonym: "black death" RELATED [] synonym: "infection by Yersinia pestis" RELATED [] synonym: "pest" RELATED [] synonym: "pestilential fever" RELATED [] synonym: "plague" EXACT [] {comment="preferred label from MONDO"} synonym: "Yersinia pestis infection" EXACT [] synonym: "Yersiniosis" BROAD [Orphanet:707] xref: DOID:3482 {source="MONDO:equivalentTo"} xref: ICD10CM:A20 {source="MONDO:equivalentTo", source="DOID:3482"} xref: ICD9:020 {source="DOID:3482"} xref: ICD9:020.9 {source="DOID:3482"} xref: ICD9:136.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10035148 {source="Orphanet:707/e", source="Orphanet:707"} xref: MedDRA:10061416 {source="Orphanet:707/e", source="Orphanet:707"} xref: MESH:D010930 {source="Orphanet:707/e", source="MONDO:equivalentTo", source="Orphanet:707", source="DOID:3482"} xref: MESH:D015009 {source="Orphanet:707/e", source="Orphanet:707", source="MONDO:directSiblingOf"} xref: MONDO:0019095 xref: NCIT:C85015 {source="MONDO:equivalentTo", source="DOID:3482"} xref: Orphanet:707 {source="MONDO:equivalentTo"} xref: SCTID:58750007 {source="MONDO:equivalentTo", source="DOID:3482"} xref: UMLS:C0032064 {source="Orphanet:707/e", source="MONDO:equivalentTo", source="Orphanet:707", source="NCIT:C85015", source="DOID:3482"} is_a: EFO:1001245 ! Yersinia infectious disease is_a: MONDO:0000314 {source="DOID:3482"} ! primary bacterial infectious disease is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare property_value: closeMatch http://identifiers.org/meddra/10035148 property_value: closeMatch http://identifiers.org/meddra/10061416 property_value: exactMatch DOID:3482 property_value: exactMatch http://identifiers.org/mesh/D010930 property_value: exactMatch http://identifiers.org/snomedct/58750007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032064 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A20 property_value: exactMatch NCIT:C85015 property_value: exactMatch Orphanet:707 [Term] id: EFO:0009426 name: necrosis def: "The phenotypic observation that death has occurred in groups of cells or in one or more tissues due to external factors, such as infection, toxins, mechanical trauma, loss of blood supply and other injuries (e.g. corrosion or burning). At the cellular level, morphological changes following necrosis include a translucent cytoplasm, swelling of organelles, modifications of the nucleus and increased cell volume (oncosis), culminating in the disruption of the plasma membrane and subsequent loss of intracellular contents. Necrotic cells do not fragment into discrete corpses as their apoptotic counterparts do. Moreover, their nuclei remain intact and can aggregate and accumulate in necrotic tissues." [] synonym: "tissue necrosis" EXACT [] xref: http://purl.obolibrary.org/obo/MPATH_4 xref: MedDRA:10028851 xref: MedDRA:10028881 xref: PMID:18846107 xref: PMID:20823910 xref: Wikipedia:Necrosis is_a: HP:0000118 ! Phenotypic abnormality [Term] id: EFO:0009427 name: embryonic lethality def: "Death of an embryo (human or animal) within the embryonic period prior to organogenesis. In mouse, this is defined as prior to E14." [] xref: MP:0008762 is_a: EFO:0000651 ! phenotype [Term] id: EFO:0009428 name: synthetic lethality def: "Death arising when a combination of deficiencies in the expression of two or more genes leads to cell death, whereas a deficiency in only one of these genes does not." [] xref: http://biomodels.net/SBO/SBO_0000502 xref: Wikipedia:Synthetic_lethality is_a: EFO:0000651 ! phenotype [Term] id: EFO:0009429 name: Mycobacterium infection def: "Infections with bacteria of the genus Mycobacterium." [] synonym: "mycobacterial infection" EXACT [] xref: MedDRA:10062207 xref: NCIt:C26831 is_a: EFO:0000771 ! bacterial disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009430 name: neuralgia def: "A pain disorder characterize by pain in the distribution of a nerve or nerves" [Wikipedia:Neuralgia] def: "Intense painful sensation along a nerve or group of nerves. It is caused by irritation or trauma to a nerve or inflammation of a nerve." [] synonym: "neuralgia" EXACT [] {comment="preferred label from MONDO"} synonym: "pain, nerve" RELATED [MESH:D009437] synonym: "pain, neuropathic" RELATED [MESH:D009437] synonym: "paroxysmal nerve pain" RELATED [MESH:D009437] synonym: "paroxysmal nerve pains" RELATED [MESH:D009437] xref: ICD9:729.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10029223 xref: MedDRA:10029228 xref: MESH:D009437 {source="MONDO:equivalentTo"} xref: MeSH:D009437 xref: MONDO:0021667 xref: NCIt:C79695 xref: SCTID:16269008 {source="MONDO:equivalentTo"} is_a: EFO:0003100 ! peripheral neuropathy is_a: MONDO:0700057 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-4142-7153"} ! neurological pain disorder property_value: definition:citation OMIT:0010464 xsd:string property_value: exactMatch http://identifiers.org/mesh/D009437 property_value: exactMatch http://identifiers.org/snomedct/16269008 property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009431 name: intestinal disease def: "A disease that affects the small or large intestine." [] def: "A non-neoplastic or neoplastic disorder that affects the small or large intestine." [NCIT:C26801] subset: rare_grouping synonym: "disease of intestine" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of intestine" EXACT [] synonym: "disease, intestinal" RELATED [MESH:D007410] synonym: "diseases, intestinal" RELATED [MESH:D007410] synonym: "disorder of intestine" EXACT [MONDO:patterns/location_top] synonym: "intestinal disease" EXACT [MESH:D007410] synonym: "intestinal disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "intestinal disorder" EXACT [NCIT:C26801] synonym: "intestine disease" EXACT [MONDO:patterns/location] synonym: "intestine disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "intestine disorder" EXACT [] xref: DOID:5295 {source="MONDO:equivalentTo", source="EFO:0000405"} xref: ICD10:A04 xref: ICD10:A08 xref: ICD10:K63 xref: ICD9:520-579.99 {source="EFO:0000405"} xref: ICD9:560-569.99 {source="EFO:0000405"} xref: ICD9:564 {source="EFO:0000405"} xref: ICD9:564.4 {source="EFO:0000405"} xref: ICD9:569 {source="EFO:0000405"} xref: ICD9:569.4 {source="EFO:0000405"} xref: ICD9:569.49 {source="EFO:0000405"} xref: ICD9:569.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:569.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:5295"} xref: ICD9:570-579.99 {source="EFO:0000405"} xref: ICD9:575 {source="EFO:0000405"} xref: MESH:D007410 {source="MONDO:equivalentTo", source="DOID:5295", source="EFO:0000405"} xref: MONDO:0005020 xref: NCIT:C26801 {source="MONDO:equivalentTo", source="DOID:5295"} xref: NCIt:C26801 xref: SCTID:85919009 {source="MONDO:equivalentTo", source="DOID:5295"} is_a: EFO:0000405 {source="DOID:5295", source="MESH:D007410", source="MONDO:Redundant", source="NCIT:C26801"} ! digestive system disease is_a: EFO:0010282 ! gastrointestinal disease property_value: exactMatch DOID:5295 property_value: exactMatch http://identifiers.org/mesh/D007410 property_value: exactMatch http://identifiers.org/snomedct/85919009 property_value: exactMatch NCIT:C26801 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009432 name: fibroblastic disorder def: "A disorder that affects fibroblasts." [] synonym: "fibroblastic disease" EXACT [] xref: ICD10:M72 xref: ISBN-10:0632067101 xref: ISBN-13:978-0632067107 is_a: EFO:1001986 ! connective tissue disease property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009433 name: lower respiratory tract disease def: "A disease involving the lower respiratory tract." [https://orcid.org/0000-0002-6601-2165] def: "A disease that affects the lower respiratory tract." [] synonym: "disease of lower respiratory tract" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of lower respiratory tract" EXACT [] synonym: "disorder of lower respiratory tract" EXACT [MONDO:patterns/location_top] synonym: "lower respiratory tract disease" EXACT [MONDO:patterns/location] synonym: "lower respiratory tract disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "lower respiratory tract disorder" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0050161 {source="MONDO:equivalentTo"} xref: ICD10:J22 xref: ICD9:478.1 {source="DOID:0050161"} xref: ICD9:478.19 {source="DOID:0050161"} xref: MONDO:0000270 xref: SCTID:128272009 {source="MONDO:equivalentTo"} xref: UMLS:C1290325 {source="MONDO:equivalentTo"} is_a: EFO:0000684 {source="DOID:0050161", source="MONDO:Redundant"} ! respiratory system disease property_value: exactMatch DOID:0050161 property_value: exactMatch http://identifiers.org/snomedct/128272009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1290325 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009434 name: death by undetermined cause def: "A death that can't be attributed to any precise cause." [] comment: EFO:0009434 'death by undetermined cause' refers to a material property (a complication) and not necessarily recorded in a follow-up study; EFO:0030051 'death from other causes' refers to an observation in a follow-up status. xref: ICD10:R99 xref: NCIt:C82466 is_a: EFO:0009518 ! complication [Term] id: EFO:0009435 name: arthritis disease activity score measurement def: "Quantification of the global severity of rheumatoid arthritis in a patient, based on a combination of several different specific measures, e.g. swollen 28-joint count, tender 28-joint count, erythrocyte sedimentation rate and patient global health assessment score." [] synonym: "DAS28" EXACT [] synonym: "disease activity score" EXACT [] xref: PMID:30166627 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:0000685 ! is_about rheumatoid arthritis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009436 name: offspring survival measurement def: "Quantification of the ability of an individual's offspring to survive or live successfully, e.g. the number of children surviving to a given age." [] xref: PMID:30188897 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009437 name: offspring mortality measurement def: "Quantification of some aspect of the death of an individual's offspring, e.g. the number of children dying before a given age." [] xref: PMID:30188897 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009438 name: number of pregnancies measurement def: "Quantification of the number of pregnancies a woman has" [] xref: PMID:30188897 is_a: EFO:0007862 ! reproductive behaviour measurement relationship: IAO:0000136 EFO:0002950 ! is_about pregnancy relationship: IAO:0000136 UBERON:0000474 ! is_about female reproductive system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009439 name: multiple births measurement def: "Quantification of some aspect of multiple births, eg the number or proportion born to an individual." [] xref: PMID:30188897 is_a: EFO:0007862 ! reproductive behaviour measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009440 name: age at last pregnancy measurement def: "A measurement of the age at which a woman became pregnant for the final time in her reproductive life." [] xref: PMID:30188897 is_a: EFO:0007862 ! reproductive behaviour measurement relationship: IAO:0000136 EFO:0002950 ! is_about pregnancy relationship: IAO:0000136 UBERON:0000474 ! is_about female reproductive system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009441 name: Waldenstrom macroglobulinemia subset: ordo_disease {source="Orphanet:33226"} synonym: "lymphoplasmacytic lymphoma with IgM gammopathy" EXACT [DOID:0060901] synonym: "macroglobulinemia of Waldenstrom" RELATED [GARD:0007872] synonym: "Waldenstroem's macroglobulinemia" RELATED [DOID:0060901] synonym: "Waldenstrom macroglobulinemia" EXACT [] {comment="preferred label from MONDO"} synonym: "Waldenstrom macroglobulinemia" EXACT [MONDO:0007926, NCIT:C80307] synonym: "Waldenstrom macroglobulinemia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "Waldenstrom macroglobulinemia" EXACT [MONDO:0007926] synonym: "Waldenstrom macroglobulinemia" EXACT [NCIT:C80307] synonym: "Waldenstrom's macroglobulinaemia" RELATED [GARD:0007872] synonym: "Waldenstrom's macroglobulinemia" EXACT [NCIT:C80307] synonym: "Waldenstrom's syndrome" RELATED [GARD:0007872] synonym: "Waldenström macroglobulinemia" EXACT [NCIT:C80307] xref: DOID:0060901 {source="MONDO:equivalentTo"} xref: GARD:0007872 {source="MONDO:equivalentTo", source="OMIM-shared"} xref: ICD10:C88.0 {source="Orphanet:33226", source="MONDO:equivalentTo", source="DOID:0060901", source="ORDO:33226/e"} xref: ICD10CM:C88.0 {source="Orphanet:33226", source="MONDO:equivalentTo", source="Orphanet:33226/e", source="DOID:0060901"} xref: MedDRA:10047801 {source="Orphanet:33226", source="Orphanet:33226/e"} xref: MedDRA:10047801 {source="Orphanet:33226", source="ORDO:33226/e"} xref: MESH:D008258 {source="Orphanet:33226", source="MONDO:equivalentTo", source="DOID:0060901", source="ORDO:33226/e"} xref: MESH:D008258 {source="Orphanet:33226", source="MONDO:equivalentTo", source="Orphanet:33226/e", source="DOID:0060901"} xref: MONDO:0100280 xref: NCIT:C80307 {source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C80307 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: OMIMPS:153600 {source="MONDO:equivalentTo"} xref: ONCOTREE:WM {source="MONDO:equivalentTo"} xref: Orphanet:33226 {source="MONDO:equivalentTo", source="DOID:0060901", source="OMIM:153600"} xref: UMLS:C0024419 {source="Orphanet:33226", source="MONDO:equivalentTo", source="NCIT:C80307", source="Orphanet:33226/e", source="DOID:0060901"} xref: UMLS:C0024419 {source="Orphanet:33226", source="MONDO:equivalentTo", source="NCIT:C80307", source="DOID:0060901", source="ORDO:33226/e"} is_a: MONDO:0000432 {source="DOID:0060901", source="NCIT:C80307", source="ONCOTREE:WM"} ! lymphoplasmacytic lymphoma is_a: MONDO:0017594 {source="Orphanet:33226"} ! indolent B-cell non-Hodgkin lymphoma is_a: MONDO:0019052 ! inborn errors of metabolism property_value: closeMatch http://identifiers.org/meddra/10047801 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3549870 property_value: exactMatch DOID:0060901 property_value: exactMatch DOID:0060901 property_value: exactMatch http://identifiers.org/meddra/10047801 property_value: exactMatch http://identifiers.org/mesh/D008258 property_value: exactMatch http://identifiers.org/mesh/D008258 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024419 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024419 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/C88.0 property_value: exactMatch https://omim.org/phenotypicSeries/PS153600 property_value: exactMatch NCIT:C80307 property_value: exactMatch NCIT:C80307 property_value: exactMatch Orphanet:33226 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: should_conform_to http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: EFO:0009443 name: BRCAX breast cancer def: "Breast cancer occuring in women with a family history indicative or being a BRCA1 or BRCA2 mutation carrier, but genetic screening for these genes has failed to find clinically significant mutations." [] comment: PMID:30323354 synonym: "BRCA1/2 negative familial breast cancer" EXACT [] synonym: "BRCA1/2 negative high risk breast cancer" EXACT [] synonym: "BRCA1/BRCA2 negative familial breast cancer" EXACT [] synonym: "BRCA1/BRCA2 negative high risk breast cancer" EXACT [] synonym: "non-BRCA familial breast cancer" EXACT [] is_a: EFO:0000305 ! breast carcinoma property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009444 name: hypoxia def: "A decrease in the amount of oxygen in the body. Symptoms range from mild (impaired judgment, memory loss, impaired motor coordination) to severe (seizures and coma). [ NCI ]" [] xref: MedDRA:10021143 xref: MP:0005039 xref: NCIt:C3890 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: EFO:0009445 name: anoxya def: "Absence or reduction of oxygen in body tissue. [ NCI ]" [] xref: NCIt:C2876 is_a: EFO:0009444 ! hypoxia [Term] id: EFO:0009446 name: asphyxia def: "A state of general hypoxia and hypercapnia (abnormally elevated carbon dioxide (CO2) levels in the blood), resulting in acidosis, which affects all tissues in the body. [ NCI ]" [] xref: MedDRA:10003497 xref: NCIt:C50465 is_a: EFO:0009444 ! hypoxia [Term] id: EFO:0009447 name: hypoxemia def: "A finding indicating decreased oxygen levels in the blood. [ NCI ]" [] xref: HP:0012418 xref: MedDRA:10021142 xref: MP:0012549 xref: NCIt:C93047 is_a: EFO:0009444 ! hypoxia [Term] id: EFO:0009448 name: pulmonary fibrosis def: "Chronic progressive interstitial lung disorder characterized by the replacement of the lung tissue by connective tissue, leading to progressive dyspnea, respiratory failure, or right heart failure. Causes include chronic inflammatory processes, exposure to environmental irritants, radiation therapy, autoimmune disorders, certain drugs, or it may be idiopathic (no identifiable cause)." [NCIT:P378] synonym: "fibrosis of lung" EXACT [DOID:3770] synonym: "pulmonary fibrosis" EXACT [] {comment="preferred label from MONDO"} synonym: "pulmonary fibrosis" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "pulmonary interstitial fibrosis" EXACT [NCIT:C26869] xref: DOID:3770 {source="MONDO:equivalentTo"} xref: MESH:D011658 {source="DOID:3770", source="MONDO:equivalentTo"} xref: MONDO:0002771 xref: NCIT:C26869 {source="DOID:3770", source="MONDO:equivalentTo"} xref: SCTID:51615001 {source="DOID:3770", source="MONDO:equivalentTo"} xref: UMLS:C0034069 {source="DOID:3770", source="MONDO:equivalentTo", source="NCIT:C26869"} is_a: EFO:0004244 {source="DOID:3770"} ! interstitial lung disease is_a: EFO:0006890 ! fibrosis property_value: closeMatch http://identifiers.org/snomedct/155613001 property_value: closeMatch http://identifiers.org/snomedct/196121006 property_value: exactMatch DOID:3770 property_value: exactMatch DOID:3770 property_value: exactMatch http://identifiers.org/mesh/D011658 property_value: exactMatch http://identifiers.org/mesh/D011658 property_value: exactMatch http://identifiers.org/snomedct/51615001 property_value: exactMatch http://identifiers.org/snomedct/51615001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034069 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034069 property_value: exactMatch NCIT:C26869 property_value: exactMatch NCIT:C26869 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009449 name: keratitis def: "A corneal disease that is characterized by inflammation of the cornea." [NCIT:C26805] def: "Inflammation of the cornea. [ NCIt:P378 ]" [] synonym: "cornea inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "corneaitis" EXACT [] synonym: "inflammation of cornea" EXACT [] synonym: "keratitis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:4677 {source="MONDO:equivalentTo"} xref: ICD10:H16 xref: ICD10CM:H16 {source="DOID:4677", source="MONDO:equivalentTo"} xref: ICD9:370 {source="DOID:4677"} xref: ICD9:370.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:370.9 {source="DOID:4677", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10023332 xref: MedDRA:10023346 xref: MESH:D007634 {source="DOID:4677", source="MONDO:equivalentTo"} xref: MONDO:0003085 xref: NCIT:C26805 {source="DOID:4677", source="MONDO:equivalentTo"} xref: SCTID:5888003 {source="DOID:4677", source="MONDO:equivalentTo"} xref: UMLS:C0022568 {source="DOID:4677", source="MONDO:equivalentTo", source="NCIT:C26805"} is_a: EFO:0009464 {source="DOID:4677", source="MESH:D007634", source="MONDO:Redundant", source="NCIT:C26805/inferred"} ! corneal disease is_a: EFO:0009903 {source="MONDO:Redundant"} ! inflammatory disease property_value: exactMatch DOID:4677 property_value: exactMatch http://identifiers.org/mesh/D007634 property_value: exactMatch http://identifiers.org/snomedct/5888003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022568 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H16 property_value: exactMatch NCIT:C26805 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009450 name: conjunctivitis def: "Inflammation of the conjunctiva of the eye." [NCIT:P378] def: "Inflammation of the conjunctiva of the eye. [ NCIt:P378 ]" [] synonym: "conjunctiva inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "conjunctivitis" EXACT [MONDO:ambiguous] synonym: "conjunctivitis" EXACT [] {comment="preferred label from MONDO"} synonym: "conjunctivitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "inflammation of conjunctiva" EXACT [] synonym: "Madras eye" RELATED [DOID:6195] synonym: "pink eye" EXACT [NCIT:C34504] xref: DOID:6195 {source="MONDO:equivalentTo"} xref: HP:0000509 {source="MONDO:otherHierarchy"} xref: ICD10:H10 xref: ICD9:372.30 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:6195"} xref: ICD9:372.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10010741 xref: MedDRA:10010757 xref: MESH:D003231 {source="MONDO:equivalentTo", source="DOID:6195"} xref: MONDO:0003799 xref: NCIT:C34504 {source="MONDO:equivalentTo", source="DOID:6195"} xref: SCTID:9826008 {source="MONDO:equivalentTo", source="DOID:6195"} xref: UMLS:C0009763 {source="MONDO:equivalentTo", source="DOID:6195", source="NCIT:C34504"} is_a: EFO:0009903 {source="MONDO:Redundant"} ! inflammatory disease is_a: EFO:1000203 {source="DOID:6195", source="MESH:D003231", source="MONDO:Redundant"} ! Conjunctival Disorder property_value: exactMatch DOID:6195 property_value: exactMatch http://identifiers.org/mesh/D003231 property_value: exactMatch http://identifiers.org/snomedct/9826008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009763 property_value: exactMatch NCIT:C34504 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000589 "conjunctivitis (disease)" xsd:string [Term] id: EFO:0009451 name: hypoparathyroidism def: "Hypoparathyroidism is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms include abdominal pain, brittle nails, cataracts, dry hair and skin, muscle cramps, tetany, pain in the face, legs, and feet, seizures, tingling sensation, and weakened tooth enamel (in children). It may be caused by injury to the parathyroid glands (e.g. during surgery). Other causes include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism, metabolic alkalosis, DiGeorge syndrome, and type I polyglandular autoimmune syndrome. The goal of treatment is to restore the calcium and mineral balance in the body. [ https://rarediseases.info.nih.gov/diseases/6733/hypoparathyroidism ]" [] def: "Hypoparathyroidism is is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms includeabdominal pain, brittle nails, cataracts, dry hair and skin,muscle cramps,tetany, pain in the face, legs, and feet, seizures, tingling sensation,and weakened tooth enamel (in children). It may be caused byinjury to the parathyroid glands (e.g., during surgery). Other causes, include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism, metabolic alkalosis, DiGeorge syndrome, and type I polyglandular autoimmune syndrome. The goal of treatment is to restore the calcium and mineral balance in the body." [https://rarediseases.info.nih.gov/diseases/6733/hypoparathyroidism] subset: gard_rare {source="GARD:0006733"} synonym: "hypoparathyroidism" EXACT [] {comment="preferred label from MONDO"} synonym: "hypoparathyroidism, idiopathic (subtype)" RELATED [GARD:0006733] synonym: "parathyroid, underactivity of" RELATED [GARD:0006733] xref: DOID:11199 {source="MONDO:equivalentTo"} xref: ICD10:E20 xref: ICD10CM:E20 {source="MONDO:equivalentTo", source="DOID:11199"} xref: ICD9:252.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11199"} xref: MedDRA:10021041 xref: MESH:D007011 {source="MONDO:equivalentTo", source="DOID:11199"} xref: MONDO:0001220 xref: NCIT:C78350 {source="MONDO:equivalentTo", source="DOID:11199"} xref: SCTID:36976004 {source="MONDO:equivalentTo", source="DOID:11199"} is_a: EFO:0005754 {source="DOID:11199", source="MESH:D007011", source="NCIT:C78350/inferred"} ! parathyroid disease property_value: exactMatch DOID:11199 property_value: exactMatch http://identifiers.org/mesh/D007011 property_value: exactMatch http://identifiers.org/snomedct/36976004 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E20 property_value: exactMatch NCIT:C78350 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6733/hypoparathyroidism xsd:anyURI {source="GARD:0006733"} [Term] id: EFO:0009452 name: hyperaldosteronism def: "Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia." [NCIT:P378] def: "Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia. [ NCIt:P378 ]" [] synonym: "hyperaldosteronism" EXACT [] {comment="preferred label from MONDO"} synonym: "primary hyperaldosteronism" RELATED [DOID:446] xref: DOID:446 {source="MONDO:equivalentTo"} xref: ICD10:E26 xref: ICD10CM:E26 {source="DOID:446", source="MONDO:equivalentTo"} xref: ICD9:255.1 {source="DOID:446", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:255.10 {source="DOID:446", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10020571 xref: MESH:D006929 {source="DOID:446", source="MONDO:equivalentTo"} xref: MONDO:0003009 xref: SCTID:88213004 {source="DOID:446", source="MONDO:equivalentTo"} xref: UMLS:C0020428 {source="DOID:446", source="MONDO:equivalentTo"} is_a: EFO:1000797 {source="DOID:446", source="MESH:D006929"} ! adrenal gland hyperfunction property_value: exactMatch DOID:446 property_value: exactMatch http://identifiers.org/mesh/D006929 property_value: exactMatch http://identifiers.org/snomedct/88213004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020428 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E26 [Term] id: EFO:0009453 name: hemiplegia def: "Severe or complete loss of motor function on one side of the body. This condition is usually caused by brain diseases that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, brain stem lesions; cervical spinal cord diseases; peripheral nervous system diseases; and other conditions may manifest as hemiplegia. The term hemiparesis (see paresis) refers to mild to moderate weakness involving one side of the body." [MESH:D006429] def: "Severe or complete loss of motor function on one side of the body. This condition is usually caused by brain diseases that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, brain stem lesions; cervical spinal cord diseases; peripheral nervous system diseases; and other conditions may manifest as hemiplegia. The term hemiparesis (see paresis) refers to mild to moderate weakness involving one side of the body. [ MeSH:D006429 ]" [] subset: gard_rare {source="GARD:0006583"} synonym: "hemiplegia" EXACT [] {comment="preferred label from MONDO"} synonym: "infantile hemiplegia" EXACT [DOID:10969] synonym: "postnatal infantile hemiplegia" EXACT [DOID:10969] xref: DOID:10969 {source="MONDO:equivalentTo"} xref: HP:0002301 xref: ICD10:G81 xref: ICD9:343.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10969"} xref: MedDRA:10019468 xref: MedDRA:10019473 xref: MESH:D006429 {source="MONDO:equivalentTo", source="DOID:10969"} xref: MONDO:0001170 xref: SCTID:1593000 {source="MONDO:equivalentTo", source="DOID:10969"} is_a: EFO:1000631 {source="https://github.com/monarch-initiative/mondo/issues/622"} ! palsy property_value: exactMatch DOID:10969 property_value: exactMatch http://identifiers.org/mesh/D006429 property_value: exactMatch http://identifiers.org/snomedct/1593000 property_value: excluded_subClassOf MONDO:0002602 {source="DOID:10969"} property_value: gwas:trait "true" xsd:boolean property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6583/hemiplegia xsd:anyURI {source="GARD:0006583"} [Term] id: EFO:0009454 name: gastric ulcer def: "An ulcerated lesion in the mucosal surface of the stomach. It may progress to involve the deeper layers of the gastric wall." [NCIT:P378] def: "An ulcerated lesion in the mucosal surface of the stomach. It may progress to involve the deeper layers of the gastric wall. [ NCIt:P378 ]" [] synonym: "acute gastric ulcer with haemorrhage and obstruction" NARROW OMO:0003005 [] synonym: "acute gastric ulcer with haemorrhage and perforation" NARROW OMO:0003005 [] synonym: "acute gastric ulcer with haemorrhage and perforation, with obstruction" NARROW OMO:0003005 [] synonym: "acute gastric ulcer with haemorrhage and perforation, without mention of obstruction" NARROW OMO:0003005 [] synonym: "acute gastric ulcer with haemorrhage and with perforation but without obstruction" NARROW OMO:0003005 [] synonym: "acute gastric ulcer with hemorrhage and obstruction" NARROW [DOID:10808] synonym: "acute gastric ulcer with hemorrhage and perforation" NARROW [DOID:10808] synonym: "acute gastric ulcer with hemorrhage and perforation, with obstruction" NARROW [DOID:10808] synonym: "acute gastric ulcer with hemorrhage and perforation, without mention of obstruction" NARROW [DOID:10808] synonym: "acute gastric ulcer with hemorrhage and with perforation but without obstruction" NARROW [DOID:10808] synonym: "acute gastric ulcer with hemorrhage, with obstruction" NARROW [DOID:10808] synonym: "acute gastric ulcer with hemorrhage, with perforation and with obstruction" NARROW [DOID:10808] synonym: "acute gastric ulcer with perforation" NARROW [DOID:10808] synonym: "acute gastric ulcer with perforation and obstruction" NARROW [DOID:10808] synonym: "acute gastric ulcer with perforation, with obstruction" NARROW [DOID:10808] synonym: "acute gastric ulcer without haemorrhage and without perforation" NARROW OMO:0003005 [] synonym: "acute gastric ulcer without hemorrhage and without perforation" NARROW [DOID:10808] synonym: "acute gastric ulcer without hemorrhage, without perforation and without obstruction" NARROW [DOID:10808] synonym: "acute gastric ulcer without mention of haemorrhage or perforation, without mention of obstruction" NARROW OMO:0003005 [] synonym: "acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction" NARROW [DOID:10808] synonym: "bleeding acute gastric ulcer" NARROW [DOID:10808] synonym: "chronic gastric ulcer without haemorrhage and without perforation" NARROW OMO:0003005 [] synonym: "chronic gastric ulcer without haemorrhage and without perforation but with obstruction" NARROW OMO:0003005 [] synonym: "chronic gastric ulcer without hemorrhage and without perforation" NARROW [DOID:10808] synonym: "chronic gastric ulcer without hemorrhage and without perforation but with obstruction" NARROW [DOID:10808] synonym: "chronic gastric ulcer without mention of haemorrhage or perforation, with obstruction" NARROW OMO:0003005 [] synonym: "chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction" NARROW [DOID:10808] synonym: "gastric ulcer" EXACT [] {comment="preferred label from MONDO"} synonym: "gastric ulcer" EXACT [MONDO:ambiguous] synonym: "gastric ulcer (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "peptic ulcer disease of stomach" EXACT [MONDO:design_pattern] synonym: "stomach peptic ulcer" EXACT [] synonym: "stomach peptic ulcer disease" EXACT [MONDO:patterns/location] xref: DOID:10808 {source="MONDO:equivalentTo"} xref: HP:0002592 {source="MONDO:otherHierarchy"} xref: ICD10:K25 xref: ICD10CM:K25 {source="MONDO:equivalentTo", source="DOID:10808"} xref: ICD9:531 {source="DOID:10808"} xref: MedDRA:10017822 xref: MedDRA:10017838 xref: MedDRA:10017839 xref: MedDRA:10017840 xref: MedDRA:10017841 xref: MedDRA:10017842 xref: MedDRA:10017843 xref: MedDRA:10017844 xref: MedDRA:10017845 xref: MedDRA:10017846 xref: MedDRA:10055253 xref: MedDRA:10055794 xref: MedDRA:10055795 xref: MedDRA:10056223 xref: MESH:D013276 {source="MONDO:equivalentTo", source="DOID:10808"} xref: MONDO:0001126 xref: NCIT:C3388 {source="MONDO:equivalentTo", source="DOID:10808"} xref: SCTID:397825006 {source="MONDO:equivalentTo", source="DOID:10808"} xref: UMLS:C0038358 {source="MONDO:equivalentTo", source="NCIT:C3388", source="DOID:10808"} is_a: EFO:0009608 {source="MESH:D013276/inferred", source="MONDO:Redundant", source="NCIT:C3388/inferred"} ! stomach disease is_a: HP:0004398 ! Peptic ulcer is_a: MONDO:0004247 {source="DOID:10808", source="MESH:D013276", source="MONDO:Redundant", source="NCIT:C3388"} ! peptic ulcer disease property_value: exactMatch DOID:10808 property_value: exactMatch http://identifiers.org/mesh/D013276 property_value: exactMatch http://identifiers.org/snomedct/397825006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038358 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K25 property_value: exactMatch NCIT:C3388 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000589 "gastric ulcer (disease)" xsd:string [Term] id: EFO:0009455 name: lacrimal apparatus disease def: "A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus." [NCIT:C26809] def: "A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus. [ NCIt:C26809 ]" [] synonym: "disease of lacrimal apparatus" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of lacrimal apparatus" EXACT [] synonym: "disorder of lacrimal apparatus" EXACT [MONDO:patterns/location_top] synonym: "disorder of lacrimal system" EXACT [NCIT:C26809] synonym: "lachrymal system disorders" RELATED [] synonym: "lacrimal apparatus disease" EXACT [MONDO:patterns/location] synonym: "lacrimal apparatus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "lacrimal apparatus disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "lacrimal system disease" EXACT [MONDO:0021628] synonym: "lacrimal system disorder" EXACT [NCIT:C26809] xref: DOID:1400 {source="MONDO:equivalentTo"} xref: ICD10:H04 xref: ICD9:375 {source="DOID:1400"} xref: ICD9:375.69 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:375.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:375.9 {source="MONDO:equivalentTo", source="DOID:1400", source="MONDO:i2s"} xref: MESH:D007766 {source="MONDO:equivalentTo", source="DOID:1400"} xref: MONDO:0001854 xref: NCIT:C26809 {source="MONDO:equivalentTo", source="DOID:1400"} xref: SCTID:31053003 {source="MONDO:equivalentTo", source="DOID:1400"} is_a: EFO:0003966 {source="DOID:1400", source="MONDO:Entailed", source="NCIT:C26809"} ! eye disease is_a: EFO:0009547 ! eyelid disease property_value: exactMatch DOID:1400 property_value: exactMatch http://identifiers.org/mesh/D007766 property_value: exactMatch http://identifiers.org/snomedct/31053003 property_value: exactMatch NCIT:C26809 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009456 name: exfoliative dermatitis def: "The widespread involvement of the skin by a scaly, erythematous dermatitis occurring either as a secondary or reactive process to an underlying cutaneous disorder (e.g., atopic dermatitis, psoriasis, etc.), or as a primary or idiopathic disease. It is often associated with the loss of hair and nails, hyperkeratosis of the palms and soles, and pruritus. (From Dorland, 27th ed)" [MESH:D003873] def: "The widespread involvement of the skin by a scaly, erythematous dermatitis occurring either as a secondary or reactive process to an underlying cutaneous disorder (e.g., atopic dermatitis, psoriasis, etc.), or as a primary or idiopathic disease. It is often associated with the loss of hair and nails, hyperkeratosis of the palms and soles, and pruritus. (From Dorland, 27th ed) [ MeSH:D003873 ]" [] subset: gard_rare synonym: "Dermatitides, exfoliative" RELATED [MESH:D003873] synonym: "dermatitis exfoliativa" RELATED [MESH:D003873] synonym: "erythroderma" RELATED [MESH:D003873] synonym: "Erythrodermas" RELATED [MESH:D003873] synonym: "exfoliative Dermatitides" RELATED [MESH:D003873] synonym: "exfoliative dermatitis" EXACT [MESH:D003873] synonym: "exfoliative dermatitis" EXACT [] {comment="preferred label from MONDO"} xref: ICD10:L26 xref: MedDRA:10015665 xref: MESH:D003873 {source="MONDO:equivalentTo"} xref: MONDO:0043233 xref: NCIT:C39646 {source="MONDO:equivalentTo"} xref: SCTID:399992009 {source="MONDO:equivalentTo"} xref: UMLS:C0011606 {source="MONDO:equivalentTo", source="GARD:0006393"} is_a: EFO:1000636 ! inflammatory skin disease is_a: MONDO:0002406 {source="MESH:D003873"} ! dermatitis property_value: exactMatch http://identifiers.org/mesh/D003873 property_value: exactMatch http://identifiers.org/snomedct/399992009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011606 property_value: exactMatch NCIT:C39646 [Term] id: EFO:0009457 name: abnormal vascular wound healing def: "Anomaly in the repair process of damaged blood vessels after injury." [] xref: MP:0004883 is_a: HP:0002597 ! Abnormality of the vasculature [Term] id: EFO:0009458 name: alcohol use disorder measurement def: "A quantitative measure of alcohol use disorder, e.g. using the Alcohol Use Disorders Identification Test." [] xref: PMID:30336701 is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 MONDO:0007079 ! is_about alcohol dependence property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009459 name: ACPA-positive rheumatoid arthritis def: "A subtype of rheumatoid arthritis defined by the presence of autoantibodies that are directed against citrullinated peptides and proteins." [] synonym: "anti-citrullinated protein antibody-positive rheumatoid arthritis" EXACT [] is_a: EFO:0000685 ! rheumatoid arthritis property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009460 name: ACPA-negative rheumatoid arthritis def: "A subtype of rheumatoid arthritis defined by the absence of autoantibodies that are directed against citrullinated peptides and proteins." [] synonym: "anti-citrullinated protein antibody-negative rheumatoid arthritis" EXACT [] is_a: EFO:0000685 ! rheumatoid arthritis property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009462 name: obsolete_granuloma def: "an inflammation found in many diseases, it is a collection of immune cells known as macrophages.A relatively small nodular inflammatory lesion containing grouped mononuclear phagocytes, caused by infectious and noninfectious agents." [] synonym: "granulomatous lesion" EXACT [] xref: MedDRA:10018691 xref: NCIt:C3064 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.42.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication\nUse: http://purl.obolibrary.org/obo/HP_0032252\nAlso see: https://github.com/EBISPOT/efo/issues/913" xsd:string property_value: IAO:0000117 "Olamidipupo Ajigboye" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HP_0032252 [Term] id: EFO:0009463 name: infarction def: "A localised pathological necrosis of tissue resulting from obstruction of the blood supply usually by a thrombus, an embolus, or vascular torsion." [] synonym: "infarcts" EXACT [] xref: MedDRA:10061216 xref: MeSH:D007238 xref: NCIt:C25738 is_a: OBI:1110122 ! pathologic process property_value: IAO:0000117 "Olamidipupo Ajigboye" xsd:string [Term] id: EFO:0009464 name: corneal disease def: "A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma." [NCIT:P378] def: "A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma. [ NCIT ]" [] synonym: "cornea disease" EXACT [MONDO:patterns/location] synonym: "cornea disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "corneal disease" EXACT [NCIT:C26731] synonym: "corneal disorder" EXACT [NCIT:C26731] synonym: "corneal disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "disease of cornea" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of cornea" EXACT [] synonym: "disorder of cornea" EXACT [MONDO:patterns/location_top] xref: DOID:10124 {source="MONDO:equivalentTo"} xref: ICD9:371.30 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:371.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:371.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10124"} xref: MESH:D003316 {source="MONDO:equivalentTo", source="DOID:10124"} xref: MONDO:0000942 xref: NCIT:C26731 {source="MONDO:equivalentTo", source="DOID:10124"} xref: NCIt:C26731 xref: SCTID:15250008 {source="MONDO:equivalentTo", source="DOID:10124"} xref: UMLS:C0010034 {source="MONDO:equivalentTo", source="NCIT:C26731", source="DOID:10124"} is_a: EFO:0003966 {source="DOID:10124", source="MESH:D003316", source="MONDO:Redundant", source="NCIT:C26731"} ! eye disease property_value: exactMatch DOID:10124 property_value: exactMatch http://identifiers.org/mesh/D003316 property_value: exactMatch http://identifiers.org/snomedct/15250008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010034 property_value: exactMatch NCIT:C26731 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009466 name: Löfgren’s syndrome def: "Acute form of sarcoidosis characterized by erythema nodosum, bilateral hilar lymphadenopathy and polyarthralgia or polyarthritis." [] is_a: EFO:0003818 ! lung disease relationship: EFO:0000784 UBERON:0002048 ! has_disease_location lung property_value: definition:citation PMID:26651848 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0009467 name: response to anti-vascular endothelial growth factor drug def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of anti-vascular endothelial growth factor antibodies. Intravitreal injection of anti VEGF antibodies is the primary treatment for neovascular (wet) macular degeneration." [] synonym: "response to anti-VEGF drug" EXACT [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009468 name: jaw disease def: "A disease affecting the jaw region, i.e. the part of the head that corresponds to the jaw skeleton, containing soft tissue, skeleton and teeth." [] xref: ICD10:K10 is_a: EFO:1001047 ! mouth disease property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009469 name: Bartholin gland disease def: "Disease that is located in Bartholin gland." [] synonym: "Bartholin's gland disease" EXACT [] synonym: "major vestibular gland disease" EXACT [] xref: DOID:60002 xref: ICD10:N75 is_a: EFO:0000512 ! reproductive system disease property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009470 name: soft tissue disease def: "A disease affecting tissues that connect, support, or surround other structures and organs of the body, not being hard tissue such as bone. Soft tissue includes tendons, ligaments, fascia, skin, fibrous tissues, fat, and synovial membranes (which are connective tissue), and muscles, nerves and blood vessels (which are not connective tissue)." [] xref: ICD10:M70 xref: ICD10:M73 xref: ICD10:M75 xref: ICD10:M79 xref: Wikipedia:Soft_tissue is_a: EFO:0000408 ! disease property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009471 name: small kidney def: "Reduced physical bulk of one or both of the organs responsible for urine secretion." [] xref: ICD10:N27 xref: MedDRA:10041135 xref: MedDRA:10041137 xref: MP:0002989 is_a: HP:0000077 ! Abnormality of the kidney [Term] id: EFO:0009472 name: tympanic membrane perforation def: "Presence of a hole or tear in the tympanic membrane (eardrum)." [] xref: ICD10:H72 xref: MedDRA:10045210 xref: MP:0030414 is_a: HP:0000598 ! Abnormality of the ear property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009473 name: hemolysis def: "Disruption of the integrity of the erythrocyte membrane causing release of hemoglobin. [ NCI ]" [] synonym: "hemolysis, hemolytic" EXACT [] xref: MedDRA:10019491 xref: NCIt:C37965 is_a: OBI:1110122 ! pathologic process property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Olamidipupo Ajigboye" xsd:string [Term] id: EFO:0009475 name: cervical polyp def: "A polyp that arises from the cervix." [] xref: MedDRA:10008297 xref: Wikipedia:Cervical_polyp is_a: EFO:0008622 ! female genital tract polyp [Term] id: EFO:0009476 name: neck injury def: "Damage inflicted to the neck." [] xref: ICD10:S13 xref: MedDRA:10062211 is_a: EFO:0000546 ! injury property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009477 name: vertebral joint disease def: "A disease that involves one or more intervertebral joints." [] def: "A disease that involves the intervertebral joint." [MONDO:patterns/location] synonym: "disc problem" EXACT [] synonym: "disease of intervertebral joint" EXACT [MONDO:design_pattern, MONDO:patterns/location_top] synonym: "disease or disorder of intervertebral joint" EXACT [] synonym: "disorder of intervertebral joint" EXACT [MONDO:design_pattern, MONDO:patterns/location_top] synonym: "disorder of joint of spine" EXACT [] synonym: "intervertebral joint disease" EXACT [MONDO:design_pattern] synonym: "intervertebral joint disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "spondyloarthropathy" RELATED [] synonym: "vertebral joint disorder" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0037847 xref: SCTID:372109003 {source="MONDO:equivalentTo"} xref: Wikipedia:Intervertebral_disc is_a: EFO:1000999 {source="MONDO:Redundant"} ! joint disease is_a: MONDO:0000812 {source="MONDO:Redundant"} ! vertebral column disorder property_value: exactMatch http://identifiers.org/snomedct/372109003 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009478 name: vocal cord polyp def: "A non-neoplastic polypoid swelling of the vocal cord mucosa. It is usually unilateral and caused by excessive use of the voice." [NCIT:C3440] def: "A non-neoplastic polypoid swelling of the vocal cord mucosa. It is usually unilateral and caused by excessive use of the voice. [ NCIT ]" [] synonym: "laryngeal vocal fold polyp" EXACT [MONDO:patterns/location] synonym: "polyp of the vocal cord" EXACT [NCIT:C3440] synonym: "polyp of vocal cord" EXACT [] {comment="preferred label from MONDO"} synonym: "vocal cord polyp" EXACT [NCIT:C3440] xref: MedDRA:10047675 xref: MONDO:0021420 xref: NCIT:C3440 {source="MONDO:equivalentTo"} xref: SCTID:9078005 {source="MONDO:equivalentTo"} xref: UMLS:C0042929 {source="NCIT:C3440", source="MONDO:equivalentTo"} is_a: EFO:0000662 {source="MONDO:Redundant", source="NCIT:C3440"} ! polyp is_a: EFO:0009673 ! laryngeal disease property_value: exactMatch http://identifiers.org/snomedct/9078005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042929 property_value: exactMatch NCIT:C3440 [Term] id: EFO:0009479 name: throat disease def: "A disease affecting the throat." [] synonym: "throat disorder" EXACT [] synonym: "throat or larynx disorder" EXACT [] xref: Wikipedia:Throat is_a: EFO:0000524 ! head and neck disorder property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009480 name: coping behaviour measurement def: "Quantification of some aspect of coping behaviour, such as emotional coping, behavioural coping, positive reappraisal, emotional support seeking or disengagement." [] xref: PMID:29665250 is_a: EFO:0006848 ! mental or behavioural disorder biomarker property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009481 name: paranasal sinus disease def: "A disease involving the paranasal sinus." [https://orcid.org/0000-0002-6601-2165] synonym: "disease of paranasal sinus" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of paranasal sinus" EXACT [] synonym: "disorder of nasal sinus" EXACT [DOID:1352] synonym: "disorder of paranasal sinus" EXACT [MONDO:patterns/location_top] synonym: "paranasal sinus disease" EXACT [MONDO:patterns/location, NCIT:C26843] synonym: "paranasal sinus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "paranasal sinus disorder" EXACT [NCIT:C26843] synonym: "paranasal sinus disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "sinus disorder" EXACT [NCIT:C26843] xref: DOID:1352 {source="MONDO:equivalentTo"} xref: ICD9:478.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D010254 {source="DOID:1352", source="MONDO:equivalentTo"} xref: MONDO:0001735 xref: NCIT:C26843 {source="DOID:1352", source="MONDO:equivalentTo"} xref: SCTID:7393007 {source="DOID:1352", source="MONDO:equivalentTo"} xref: UMLS:C0030469 {source="DOID:1352", source="MONDO:equivalentTo", source="NCIT:C26843"} is_a: EFO:0000524 ! head and neck disorder is_a: EFO:0000684 ! respiratory system disease is_a: MONDO:0002436 {source="DOID:1352", source="MESH:D010254"} ! nasal disorder is_a: MONDO:0024654 ! skull disorder property_value: exactMatch DOID:1352 property_value: exactMatch http://identifiers.org/mesh/D010254 property_value: exactMatch http://identifiers.org/snomedct/7393007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030469 property_value: exactMatch NCIT:C26843 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009482 name: drug allergy def: "Immunologically mediated adverse reactions to medicinal substances used legally or illegally." [MESH:D004342] def: "Immunologically mediated adverse reactions to medicinal substances used legally or illegally. [ MESH ]" [] synonym: "allergy of exposure to drug" EXACT [MONDO:patterns/allergy] synonym: "drug allergy" EXACT [] {comment="preferred label from MONDO"} synonym: "drug hypersensitivity" EXACT [] synonym: "exposure to drug allergic disease" EXACT [] xref: DOID:0060500 {source="MONDO:equivalentTo"} xref: MedDRA:10013661 xref: MESH:D004342 {source="MONDO:equivalentTo"} xref: MeSH:D004342 xref: MONDO:0000775 is_a: MONDO:0005271 {source="DOID:0060500", source="MESH:D004342", source="MONDO:Entailed", source="MONDO:Redundant"} ! allergic disease property_value: exactMatch DOID:0060500 property_value: exactMatch http://identifiers.org/mesh/D004342 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009483 name: breast disease def: "A disease involving the breast." [https://orcid.org/0000-0002-6601-2165] synonym: "breast disease" EXACT [MONDO:patterns/location, NCIT:C26709] synonym: "breast disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "breast diseases" EXACT [NCIT:C26709] synonym: "breast disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "breast disorder" EXACT [NCIT:C26709] synonym: "disease of breast" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of breast" EXACT [] synonym: "disorder of breast" EXACT [MONDO:patterns/location_top] xref: DOID:3463 {source="MONDO:equivalentTo"} xref: ICD10:N64 xref: ICD10CM:N60-N65 {source="DOID:3463", source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:610-612.99 {source="DOID:3463"} xref: ICD9:611.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:611.9 {source="DOID:3463", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D001941 {source="DOID:3463", source="MONDO:equivalentTo"} xref: MONDO:0002657 xref: NCIT:C26709 {source="DOID:3463", source="MONDO:equivalentTo"} xref: SCTID:79604008 {source="DOID:3463", source="MONDO:equivalentTo"} xref: UMLS:C0006145 {source="DOID:3463", source="NCIT:C26709", source="MONDO:equivalentTo"} is_a: EFO:0000408 ! disease property_value: exactMatch DOID:3463 property_value: exactMatch http://identifiers.org/mesh/D001941 property_value: exactMatch http://identifiers.org/snomedct/79604008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006145 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/N60-N65 property_value: exactMatch NCIT:C26709 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009484 name: uterine polyp def: "A benign protruding lesion arising either from the endometrial cavity (endometrial polyp) or the endocervix (endocervical polyp). It may occasionally recur following complete resection." [NCIT:P378] def: "A benign protruding lesion arising either from the endometrial cavity (endometrial polyp) or the endocervix (endocervical polyp). It may occasionally recur following complete resection. [ NCIT ]" [] synonym: "endometrial/uterine polyp" EXACT [DOID:9042] synonym: "polyp of corpus uteri" EXACT [DOID:9042] synonym: "polyp of endometrium" NARROW [DOID:9042, NCIT:C6433] synonym: "polyp of the uterus" EXACT [DOID:9042, NCIT:C3662] synonym: "polyp of uterus" EXACT [NCIT:C3662] synonym: "polyp, uterus" EXACT [DOID:9042] synonym: "uterine polyp" EXACT [NCIT:C3662] synonym: "uterine polyp" EXACT [] {comment="preferred label from MONDO"} synonym: "uterus polyp" EXACT [MONDO:patterns/location, NCIT:C3662] xref: DOID:9042 {source="MONDO:equivalentTo"} xref: ICD10CM:N84.0 {source="MONDO:equivalentTo", source="DOID:9042"} xref: ICD9:621.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9042"} xref: MedDRA:10046811 xref: MONDO:0004701 xref: NCIT:C3662 {source="MONDO:equivalentTo", source="DOID:9042"} xref: NCIt:C3662 xref: SCTID:11314008 {source="MONDO:equivalentTo", source="DOID:9042"} xref: UMLS:C0156369 {source="MONDO:equivalentTo", source="NCIT:C3662", source="DOID:9042"} is_a: EFO:0000662 {source="ICD10CM:N84.0", source="MONDO:Redundant", source="NCIT:C3662"} ! polyp is_a: EFO:0008622 ! female genital tract polyp is_a: MONDO:0002654 {source="DOID:9042", source="MONDO:Redundant", source="NCIT:C3662"} ! uterine disorder property_value: exactMatch DOID:9042 property_value: exactMatch http://identifiers.org/snomedct/11314008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156369 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/N84.0 property_value: exactMatch NCIT:C3662 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009485 name: eye injury def: "Damage inflicted to an eye." [] synonym: "ocular injury" EXACT [] xref: ICD10:S05 xref: MedDRA:10061128 xref: NCIt:C34602 is_a: EFO:0009505 ! head injury property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009486 name: diabetic eye disease def: "A group of disorders affecting the eye in patients with diabetes mellitus. It includes cataract, glaucoma, retinopathy, and blindness. [ NCI ]" [] xref: MedDRA:10012661 xref: NCIt:C84420 is_a: EFO:0003966 ! eye disease property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009487 name: nerve compression syndrome def: "Any nerve disorder caused by the entrapment and compression of a nerve." [NCIT:P378] def: "Any nerve disorder caused by the entrapment and compression of a nerve. [ NCIT ]" [] synonym: "compression neuropathy" EXACT [DOID:573] synonym: "entrapment neuropathy" EXACT [DOID:573, NCIT:C27221] synonym: "nerve compression syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "peripheral nerve entrapment syndrome" EXACT [DOID:573] synonym: "trapped nerve/compressed nerve" EXACT [] xref: DOID:573 {source="MONDO:equivalentTo"} xref: MESH:D009408 {source="MONDO:equivalentTo", source="DOID:573"} xref: MONDO:0003615 xref: NCIT:C27221 {source="MONDO:equivalentTo", source="DOID:573"} xref: NCIt:C27221 xref: SCTID:45781009 {source="MONDO:equivalentTo", source="DOID:573"} is_a: EFO:0003100 {source="NCIT:C27221"} ! peripheral neuropathy property_value: exactMatch DOID:573 property_value: exactMatch http://identifiers.org/mesh/D009408 property_value: exactMatch http://identifiers.org/snomedct/45781009 property_value: exactMatch NCIT:C27221 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009488 name: spinal cord disease def: "A disease involving the spinal cord." [https://orcid.org/0000-0002-6601-2165] synonym: "disease of spinal cord" EXACT [MONDO:patterns/location_top] synonym: "disease of the spinal cord" EXACT [ISBN-13:978-1-259-64403-0] synonym: "disease or disorder of spinal cord" EXACT [] synonym: "disorder of spinal cord" EXACT [MONDO:patterns/location_top] synonym: "myelopathy" RELATED [DOID:319] synonym: "spinal cord disease" EXACT [MONDO:patterns/location] synonym: "spinal cord disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "spinal cord disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "spinal cord disorder" EXACT [NCIT:C97110] xref: DOID:319 {source="MONDO:equivalentTo"} xref: ICD10:G95 xref: ICD9:336.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:336.9 {source="MONDO:equivalentTo", source="DOID:319", source="MONDO:i2s"} xref: MESH:D013118 {source="MONDO:equivalentTo", source="DOID:319"} xref: MONDO:0002545 xref: NCIT:C97110 {source="MONDO:equivalentTo", source="DOID:319"} xref: SCTID:48522003 {source="MONDO:equivalentTo", source="DOID:319"} xref: UMLS:C0037928 {source="MONDO:equivalentTo", source="DOID:319"} is_a: EFO:0009386 {source="DOID:319", source="MESH:D013118", source="MONDO:Redundant", source="NCIT:C97110"} ! central nervous system disease property_value: exactMatch DOID:319 property_value: exactMatch http://identifiers.org/mesh/D013118 property_value: exactMatch http://identifiers.org/snomedct/48522003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037928 property_value: exactMatch NCIT:C97110 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009489 name: cranial nerve palsy def: "Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness." [NCIT:C26941] def: "Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness. [ NCIT ]" [] synonym: "cranial nerve palsies" RELATED [NCIT:C26941] synonym: "cranial nerve palsy" EXACT [] {comment="preferred label from MONDO"} synonym: "cranial nerve palsy" EXACT [DOID:3817, NCIT:C26941] synonym: "cranial nerve paralysis" EXACT [DOID:3817, NCIT:C26941] xref: DOID:3817 {source="MONDO:equivalentTo"} xref: MONDO:0002782 xref: NCIT:C26941 {source="MONDO:equivalentTo", source="NCIT:C26941", source="DOID:3817"} xref: NCIt:C26941 xref: UMLS:C0151311 {source="MONDO:equivalentTo", source="NCIT:C26941", source="DOID:3817"} is_a: EFO:0009387 ! peripheral nervous system disease is_a: MONDO:0003569 {source="DOID:3817", source="NCIT:C26941"} ! cranial nerve neuropathy property_value: exactMatch DOID:3817 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151311 property_value: exactMatch NCIT:C26941 [Term] id: EFO:0009490 name: nervous system injury def: "Traumatic injuries to the brain, cranial nerves, spinal cord, autonomic nervous system, or neuromuscular system, including iatrogenic injuries induced by surgical procedures." [MESH:D020196] def: "Traumatic injuries to the brain, cranial nerves, spinal cord, autonomic nervous system, or neuromuscular system, including iatrogenic injuries induced by surgical procedures. [ MESH ]" [] synonym: "craniocervical Injuries" RELATED [MESH:D020196] synonym: "craniocervical injury" RELATED [MESH:D020196] synonym: "Injuries, craniocervical" RELATED [MESH:D020196] synonym: "Injuries, nervous system" RELATED [MESH:D020196] synonym: "injury of nervous system" EXACT [MONDO:design_pattern] synonym: "injury, craniocervical" RELATED [MESH:D020196] synonym: "injury, nervous system" RELATED [MESH:D020196] synonym: "nerve injury" EXACT [] synonym: "nerve trauma" EXACT [] synonym: "nervous system Injuries" RELATED [MESH:D020196] synonym: "nervous system injury" EXACT [MESH:D020196, MONDO:patterns/location] synonym: "nervous system injury" EXACT [] {comment="preferred label from MONDO"} synonym: "nervous system trauma" RELATED [MESH:D020196] synonym: "nervous system Traumas" RELATED [MESH:D020196] synonym: "neurological injury" EXACT [] synonym: "neurological trauma" EXACT [] xref: MedDRA:10080898 xref: MESH:D020196 {source="MONDO:equivalentTo"} xref: MeSH:D020196 xref: MONDO:0044745 xref: SCTID:128239009 {source="MONDO:equivalentTo"} is_a: EFO:0000546 {source="MESH:D020196", source="MONDO:Redundant"} ! injury is_a: EFO:0000618 {source="MESH:D020196", source="MONDO:Redundant"} ! nervous system disease property_value: exactMatch http://identifiers.org/mesh/D020196 property_value: exactMatch http://identifiers.org/snomedct/128239009 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009491 name: adrenocortical insufficiency def: "An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency)." [NCIT:C26691] def: "An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency). [ NCIT ]" [] synonym: "adrenal cortical hypofunction" EXACT [DOID:10493, NCIT:C26691] synonym: "adrenal cortical insufficiency" EXACT [DOID:10493, NCIT:C26691, NCIT:C27150] synonym: "adrenal gland insufficiency" EXACT [NCIT:C26691] synonym: "adrenal insufficiency" EXACT [NCIT:C26691] synonym: "adrenocortical insufficiency" EXACT [] {comment="preferred label from MONDO"} synonym: "adrenocortical insufficiency" EXACT [NCIT:C26691] synonym: "corticoadrenal insufficiency" EXACT [DOID:10493] synonym: "hypoadrenalism" RELATED [GARD:0006722] synonym: "hypocortisolemia" EXACT [NCIT:C26691] synonym: "hypocortisolism" EXACT [NCIT:C26691] xref: DOID:10493 {source="MONDO:equivalentTo"} xref: ICD9:255.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10493"} xref: ICD9:255.41 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D000309 {source="MONDO:equivalentTo"} xref: MONDO:0000004 xref: NCIT:C26691 {source="MONDO:equivalentTo", source="DOID:10493"} xref: NCIt:C26691 xref: SCTID:386584007 {source="MONDO:equivalentTo", source="DOID:10493"} xref: UMLS:C0405580 {source="MONDO:equivalentTo", source="DOID:10493"} is_a: MONDO:0002816 {source="DOID:10493", source="MONDO:Inferred"} ! adrenal cortex disorder property_value: exactMatch DOID:10493 property_value: exactMatch http://identifiers.org/mesh/D000309 property_value: exactMatch http://identifiers.org/snomedct/386584007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0405580 property_value: exactMatch NCIT:C26691 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009492 name: cardiac arrest def: "Cessation of breathing and/or cardiac function." [] synonym: "cardiopulmonary arrest" EXACT [] synonym: "circulatory arrest" EXACT [] xref: HP:0001695 xref: ICD10:I46 xref: MedDRA:10007515 xref: MeSH:D006323 xref: MONDO:0000745 xref: SNOMEDCT:397829000 xref: SNOMEDCT:410429000 xref: UMLS:C0018790 xref: UMLS:C0444720 is_a: EFO:0004269 ! cardiac arrhythmia property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009493 name: paroxysmal tachycardia def: "A form of tachycardia which begins and ends in an acute (or paroxysmal) manner." [] synonym: "Bouveret-Hoffmann syndrome" EXACT [] xref: HP:0006688 xref: ICD10:I47 xref: MedDRA:10034047 xref: MeSH:D013614 xref: SNOMEDCT:12026006 xref: UMLS:C0039236 xref: Wikipedia:Paroxysmal_tachycardia is_a: EFO:0004269 ! cardiac arrhythmia property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009494 name: C1 100080002 def: "Cell line from olfactory neurosphere cells from a 59-year-old human male." [] synonym: "C1 100 08 0002" EXACT [] synonym: "C802" EXACT [] xref: https://www.encodeproject.org/documents/ca3a16d0-3a6b-4b1c-8bf2-fc470ae0f9d8/@@download/attachment/Olfneurosphere_Crawford_protocol.pdf xref: PMID:26438696 is_a: EFO:0005705 ! olfactory neurosphere cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0009495 name: C1 100080003 def: "Cell line from olfactory neurosphere cells from a 66-year-old human female." [] synonym: "C1 100 08 0003" EXACT [] synonym: "C803" EXACT [] xref: https://www.encodeproject.org/documents/ca3a16d0-3a6b-4b1c-8bf2-fc470ae0f9d8/@@download/attachment/Olfneurosphere_Crawford_protocol.pdf xref: PMID:26438696 is_a: EFO:0005705 ! olfactory neurosphere cell line relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0009496 name: C1 100080013 def: "Cell line from olfactory neurosphere cells from a 64-year-old human male." [] synonym: "C1 100 08 0013" EXACT [] synonym: "C813" EXACT [] xref: https://www.encodeproject.org/documents/ca3a16d0-3a6b-4b1c-8bf2-fc470ae0f9d8/@@download/attachment/Olfneurosphere_Crawford_protocol.pdf xref: PMID:26438696 is_a: EFO:0005705 ! olfactory neurosphere cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0009497 name: MSLCL def: "Lymphoblastoid cell line from a Caucasian male with type 2 diabetes, same donor as of MSiPS cell line." [] xref: PMID:24136358 is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: has_characteristic MONDO:0005148 ! type 2 diabetes mellitus relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0009498 name: MSiPS def: "Induced pluripotent stem cell line from a Caucasian male with type 2 diabetes, same donor as of MSLCL cell line." [] xref: PMID:24136358 is_a: EFO:0001941 ! blood component is_a: EFO:0004905 ! induced pluripotent stem cell is_a: EFO:0005934 ! disease cell type relationship: has_characteristic MONDO:0005148 ! type 2 diabetes mellitus relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0009499 name: HCEC 2CT def: "Cells isolated from colonic biopsy of 'patient 2' (Roig et al 2010), and immortalized by expression of Cdk4 and hTERT." [] xref: PMID:19962984 is_a: BTO:0003250 ! colonic epithelium cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens [Term] id: EFO:0009500 name: HCEC 1CT def: "Cells isolated from colonic biopsy of 'patient 1' (Roig et al 2010), and immortalized by expression of Cdk4 and hTERT." [] xref: PMID:19962984 is_a: BTO:0003250 ! colonic epithelium cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens [Term] id: EFO:0009501 name: CWRU1 def: "Induced pluripotent stem cells derived from MSC658 fibroblasts." [] synonym: "iPS_CWRU1" EXACT [] xref: http://genome.cse.ucsc.edu/cgi-bin/hgEncodeVocab?ra=encode%2Fcv.ra&term=%22iPS_CWRU1%22 is_a: EFO:0004905 ! induced pluripotent stem cell relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0002384 ! connective tissue relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0009502 name: abdominal injury def: "Injury to the abdomen." [] xref: ICD10:S30 xref: ICD10:S31 xref: ICD10:S36 xref: ICD10:S39 xref: MedDRA:10060924 xref: NCIt:C34332 is_a: EFO:0000546 ! injury [Term] id: EFO:0009503 name: caustic injury def: "MedDRA:10008420" [] def: "SCTID:426284001" [] def: "Tissue corrosion or chemical burn. Chemical burns are injuries to the skin, eyes, mouth, or internal organs caused by contact with a corrosive substance" [] synonym: "chemical burn" EXACT [] xref: ICD10:T25 xref: ICD10:T29 xref: ICD10:T95 xref: MedDRA:10007827 xref: NCIt:C35622 is_a: EFO:0000546 ! injury [Term] id: EFO:0009504 name: crush injury def: "Traumatic compression of the body or a part of the body. [ NCI ]" [] xref: ICD10:S07 xref: ICD10:S47 xref: ICD10:S67 xref: ICD10:T04 xref: MedDRA:10061097 xref: NCIt:C35375 is_a: EFO:0000546 ! injury property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009505 name: head injury def: "Injury to the head." [] xref: ICD10:S00 xref: ICD10:S01 xref: ICD10:S06 xref: ICD10:S07 xref: ICD10:S09 xref: ICD10:T90 xref: MedDRA:10019196 xref: NCIt:C34660 is_a: EFO:0000546 ! injury property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009506 name: heart injury def: "Injury to the heart." [] xref: ICD10:S26 xref: MedDRA:10019288 xref: MedDRA:10019289 xref: MedDRA:10061200 xref: NCIt:C45430 is_a: EFO:0000546 ! injury property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009507 name: knee injury def: "Injury to a knee." [] xref: ICD10:M23 xref: ICD10:S83 xref: MedDRA:10049032 xref: NCIt:C34753 is_a: EFO:0009508 ! leg injury property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009508 name: leg injury def: "Injury to a leg." [] xref: ICD10:S71 xref: ICD10:S74 xref: ICD10:S75 xref: ICD10:S76 xref: ICD10:S79 xref: ICD10:S80 xref: ICD10:S81 xref: ICD10:S84 xref: ICD10:T13 xref: ICD10:T93 xref: MedDRA:10054965 xref: NCIt:C34763 is_a: EFO:0009509 ! limb injury property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009509 name: limb injury def: "Injury to a limb." [] xref: ICD10:T11 xref: ICD10:T92 xref: MedDRA:10061225 xref: NCIt:C35512 is_a: EFO:0000546 ! injury property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009510 name: peripheral nerve injury def: "Injury to a peripheral nerve." [] xref: ICD10:S74 xref: ICD10:S84 xref: MedDRA:10034586 xref: NCIt:C101250 is_a: EFO:0009490 ! nervous system injury [Term] id: EFO:0009511 name: abnormal PAP smear def: "A finding indicating the presence of abnormal cervical cells in a PAP smear. [ NCI ]" [] synonym: "abnormal PAP test" EXACT [] synonym: "abnormal smear (cervix)" EXACT [] xref: NCIt:C127841 is_a: EFO:0000720 ! test result property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009512 name: lower extremity fracture def: "A traumatic break in one or more of the bones in the hip, thigh, leg, or foot. [ NCI ]" [] synonym: "fracture of lower limb" EXACT [] xref: ICD10:S82 xref: ICD10:T12 xref: NCIt:C27002 is_a: EFO:0003931 ! bone fracture property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009513 name: multiple bone fractures def: "Two or more simultaneous traumatic breaks in one or more bones. [ NCI ]" [] synonym: "fractures involving multiple body regions" EXACT [] synonym: "multiple fractures" EXACT [] xref: ICD10:T02 xref: MedDRA:10017087 xref: MedDRA:10028200 xref: NCIt:C26778 is_a: EFO:0003931 ! bone fracture property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009514 name: upper extremity fracture def: "A traumatic break in one or more of the bones in the arm, forearm, or hand. [ NCI ]" [] synonym: "fracture of upper limb" EXACT [] xref: ICD10:T10 xref: NCIt:C27782 is_a: EFO:0003931 ! bone fracture property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009515 name: wrist fracture def: "Traumatic injury to the wrist joint in which the continuity of a wrist bone is broken. Symptoms include wrist pain, swelling, and deformity of wrist. [ NCI ]" [] xref: ICD10:S62 xref: MedDRA:10048049 xref: NCIt:C80517 is_a: EFO:0009514 ! upper extremity fracture property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009516 name: burn def: "A traumatic injury involving interruption of tissue cohesiveness that results from exposure to caustic chemicals, extreme heat, extreme cold or excessive radiation. [ NCI ]" [] xref: ICD10:T25 xref: ICD10:T29 xref: ICD10:T31 xref: ICD10:T95 xref: MedDRA:10006634 xref: MedDRA:10006772 xref: NCIt:C34441 is_a: EFO:0000546 ! injury property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009517 name: checkup def: "A general examination or inspection, especially one carried out by a doctor or dentist. [ NCI ]" [] synonym: "check up" EXACT [] synonym: "check-up" EXACT [] synonym: "medical examination" EXACT [] xref: ICD10:Z00 xref: ICD10:Z01 xref: ICD10:Z03 xref: ICD10:Z04 xref: ICD10:Z10 xref: ICD10:Z11 xref: ICD10:Z12 xref: ICD10:Z13 xref: NCIt:C41383 is_a: EFO:0002571 ! medical procedure [Term] id: EFO:0009518 name: complication def: "Any disease or disorder that occurs during the course of, or because of, another disease, treatment, or procedure. [ NCI ]" [] xref: ICD10:T79 xref: ICD10:T80 xref: ICD10:T81 xref: ICD10:T87 xref: ICD10:T88 xref: NCIt:C2959 is_a: EFO:0000408 ! disease property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009519 name: device complication def: "Any problem arising from the use of a medical device. [ NCI ]" [] xref: ICD10:T82 xref: ICD10:T83 xref: ICD10:T84 xref: ICD10:T85 xref: MedDRA:10056488 xref: NCIt:C78254 is_a: EFO:0009518 ! complication property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009520 name: contraception def: "The prevention of conception or impregnation by the use of devices or drugs or surgery. [ NCI ]" [] synonym: "contraceptive management" EXACT [] xref: ICD10:Z30 xref: NCIt:C37932 is_a: EFO:0002571 ! medical procedure property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009521 name: dislocation def: "A displacement of a part (especially a bone) from its normal position. [ NCI ]" [] xref: ICD10:S43 xref: ICD10:S63 xref: ICD10:T03 xref: MedDRA:10013160 xref: NCIt:C35724 is_a: EFO:0000546 ! injury property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009522 name: disturbance of skin sensation def: "Disruption of the normal functioning of the sensory nerves in the skin. [ NCI ]" [] xref: ICD10:R20 xref: MedDRA:10013508 xref: NCIt:C34549 is_a: EFO:0009387 ! peripheral nervous system disease property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009523 name: fecal incontinence def: "Involuntary passage of stool from the rectum. [ NCI ]" [] synonym: "faecal incontinence" EXACT [] xref: ICD10:R15 xref: MedDRA:10016296 xref: MESH:D005242 xref: NCIt:C78498 xref: SNOMEDCT:72042002 is_a: EFO:0009431 ! intestinal disease property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009524 name: female genital tract fistula def: "An abnormal communication between a female reproductive system organ and another organ or cavity. [ NCI ]" [] xref: ICD10:N82 xref: MedDRA:10061149 xref: NCIt:C78298 is_a: EFO:0009549 ! female reproductive system disease property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009525 name: foreign body def: "Extraneous material within the body. [ NCI ]" [] xref: ICD10:T16 xref: ICD10:T17 xref: NCIt:C34620 is_a: EFO:0000546 ! injury [Term] id: EFO:0009526 name: foreign body in gastrointestinal tract def: "Extraneous material located within the gastrointestinal tract. [ NCI ]" [] synonym: "foreign body in alimentary tract" EXACT [] xref: ICD10:T18 xref: NCIt:C34622 is_a: EFO:0009525 ! foreign body is_a: EFO:0010282 ! gastrointestinal disease [Term] id: EFO:0009527 name: frostbite def: "An injury to the skin and/or its underlying tissues that results from exposure of the affected area to extreme cold. [ NCI ]" [] xref: ICD10:T35 xref: ICD10:T95 xref: MedDRA:10017382 xref: MESH:D005627 xref: NCIt:C34627 is_a: EFO:0000546 ! injury [Term] id: EFO:0009528 name: AIDS-related disease def: "A non-neoplastic or neoplastic disorder arising as a result of the immunologic defects caused by Autoimmune deficiency Syndrome." [NCIT:C4991] synonym: "AIDS-related complications" EXACT [NCIT:C4991] synonym: "AIDS-Related disorder" EXACT [] synonym: "AIDS-related disorder" EXACT [NCIT:C4991] synonym: "AIDS-related disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "AIDS/HIV - Related disease associated with AIDS" EXACT [] synonym: "AIDS/HIV - relatedDisease associated with AIDS" EXACT [NCIT:C4991] synonym: "disease associated with AIDS" EXACT [NCIT:C4991] xref: ICD10:B22 xref: ICD10:B23 xref: MONDO:0024571 xref: NCIT:C4991 {source="MONDO:equivalentTo"} xref: NCIt:C4991 xref: UMLS:C0877121 {source="NCIT:C4991", source="MONDO:equivalentTo"} is_a: EFO:0000764 ! HIV infection is_a: MONDO:0021674 ! post-viral disorder is_a: MONDO:0024572 {source="MONDO:Redundant", source="NCIT:C4991"} ! immunodeficiency-related disorder intersection_of: MONDO:0024572 ! immunodeficiency-related disorder intersection_of: disease_arises_from_feature EFO:0000764 ! HIV infection relationship: disease_arises_from_feature EFO:0000764 ! HIV infection property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0877121 property_value: exactMatch NCIT:C4991 [Term] id: EFO:0009529 name: anemia due to enzyme disorder def: "Any form of anemia that results from the absence of, or the defective action of, any enzyme." [NCIT:C35472] synonym: "anemia due to enzyme disorder" EXACT [NCIT:C35472] synonym: "anemia due to enzyme disorder" EXACT [] {comment="preferred label from MONDO"} xref: ICD10:D55 xref: MONDO:0020584 xref: NCIT:C35472 {source="MONDO:equivalentTo"} xref: NCIt:C35472 xref: UMLS:C0494226 {source="MONDO:equivalentTo"} is_a: EFO:0004272 ! anemia (phenotype) is_a: MONDO:0002280 {source="NCIT:C35472"} ! anemia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0494226 property_value: exactMatch NCIT:C35472 [Term] id: EFO:0009530 name: anuria def: "Absence of urine output." [NCIT:P378] synonym: "anuria" EXACT [] {comment="preferred label from MONDO"} synonym: "suppression of urinary secretion" EXACT [DOID:2983] xref: DOID:2983 {source="MONDO:equivalentTo"} xref: ICD10:R34 xref: MedDRA:10002847 xref: MESH:D001002 {source="DOID:2983", source="MONDO:equivalentTo"} xref: MeSH:D001002 xref: MONDO:0002476 xref: UMLS:C0003460 {source="DOID:2983", source="MONDO:equivalentTo"} is_a: EFO:0003086 {source="DOID:2983", source="MESH:D001002"} ! kidney disease property_value: exactMatch DOID:2983 property_value: exactMatch http://identifiers.org/mesh/D001002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003460 [Term] id: EFO:0009531 name: aortic valve disease def: "A disease involving the aortic valve." [https://orcid.org/0000-0002-6601-2165] synonym: "aortic valve disease" EXACT [MONDO:patterns/location] synonym: "aortic valve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "aortic valve disorder" EXACT [NCIT:C78650] synonym: "aortic valve disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "disease of aortic valve" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of aortic valve" EXACT [] synonym: "disorder of aortic valve" EXACT [MONDO:patterns/location_top] xref: DOID:62 {source="MONDO:equivalentTo"} xref: ICD10:I06 xref: ICD10:I35 xref: ICD9:395 {source="DOID:62"} xref: ICD9:424.1 {source="DOID:62"} xref: MedDRA:10061589 xref: MONDO:0003803 xref: NCIT:C78650 {source="MONDO:equivalentTo", source="DOID:62"} xref: NCIt:C78650 xref: OMIM:618496 xref: UMLS:C1260873 {source="MONDO:equivalentTo", source="NCIT:C78650", source="DOID:62"} is_a: EFO:0005775 {source="MONDO:cjm"} ! aortic disease is_a: EFO:0009551 {source="DOID:62", source="MONDO:Redundant", source="NCIT:C78650"} ! heart valve disease is_a: MONDO:0045001 ! cardiac ventricle disorder property_value: exactMatch DOID:62 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1260873 property_value: exactMatch NCIT:C78650 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009532 name: autonomic nervous system disease def: "A disease involving the autonomic nervous system." [https://orcid.org/0000-0002-6601-2165] comment: Editor note: We follow uberon and treat ANS as part of PNS. TODO - curate subtypes from http://neuromuscular.wustl.edu/autonomic.html synonym: "ANS (autonomic nervous system) diseases" RELATED [MESH:D001342] synonym: "ANS disease" RELATED [MESH:D001342] synonym: "ANS diseases" RELATED [MESH:D001342] synonym: "autonomic central nervous system diseases" RELATED [MESH:D001342] synonym: "autonomic disease" RELATED [MESH:D001342] synonym: "autonomic diseases" RELATED [MESH:D001342] synonym: "autonomic dysfunction, segmental" RELATED [MESH:D001342] synonym: "autonomic dysfunctions, segmental" RELATED [MESH:D001342] synonym: "autonomic nervous disease" EXACT [DOID:11465] synonym: "autonomic nervous system disease" EXACT [MONDO:patterns/location] synonym: "autonomic nervous system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "autonomic nervous system disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "autonomic nervous system disorder" EXACT [DOID:11465] synonym: "autonomic nervous system disorders" RELATED [MESH:D001342] synonym: "autonomic peripheral nervous system diseases" NARROW [MESH:D001342] synonym: "central autonomic nervous system diseases" RELATED [MESH:D001342] synonym: "disease of autonomic nervous system" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of autonomic nervous system" EXACT [] synonym: "disorder of autonomic nervous system" EXACT [MONDO:patterns/location_top] synonym: "disorder of peripheral autonomic nervous system" EXACT [] synonym: "disorder of the autonomic nervous system" EXACT [ISBN-13:978-1-259-64403-0] synonym: "disorders of the autonomic nervous system" RELATED [MESH:D001342] synonym: "dysautonomia" EXACT [] synonym: "dysautonomia" NARROW [] synonym: "nervous system diseases, autonomic" RELATED [MESH:D001342] synonym: "nervous system diseases, sympathetic" RELATED [MESH:D001342] synonym: "peripheral autonomic nervous system diseases" NARROW [MESH:D001342] synonym: "segmental autonomic dysfunction" RELATED [MESH:D001342] synonym: "segmental autonomic dysfunctions" RELATED [MESH:D001342] xref: DOID:11465 {source="MONDO:equivalentTo"} xref: ICD10:G90 xref: ICD9:337.1 {source="DOID:11465"} xref: ICD9:337.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10013889 xref: MESH:D001342 {source="MONDO:equivalentTo"} xref: MeSH:D001342 xref: MONDO:0001292 xref: SCTID:128123007 {source="MONDO:equivalentTo"} xref: SCTID:15241006 {source="MONDO:equivalentTo"} is_a: EFO:0009386 {source="ISBN-13:978-1-259-64403-0"} ! central nervous system disease is_a: EFO:0009387 {source="DOID:11465", source="MONDO:Redundant"} ! peripheral nervous system disease property_value: definition:citation COHD:434633 xsd:string property_value: definition:citation SCTID:128123007 xsd:string property_value: definition:citation SCTID:15241006 xsd:string property_value: exactMatch DOID:11465 property_value: exactMatch http://identifiers.org/mesh/D001342 property_value: exactMatch http://identifiers.org/snomedct/128123007 property_value: exactMatch http://identifiers.org/snomedct/15241006 property_value: excluded_subClassOf MONDO:0001300 [Term] id: EFO:0009533 name: basal ganglia disease def: "A disease involving the basal ganglia." [https://orcid.org/0000-0002-6601-2165] synonym: "basal ganglia disease" EXACT [MONDO:patterns/location] synonym: "basal ganglia disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "collection of basal ganglia disease" EXACT [MONDO:patterns/location] synonym: "collection of basal ganglia disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "disease of basal ganglia" EXACT [MONDO:patterns/location_top] synonym: "disease of collection of basal ganglia" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of collection of basal ganglia" EXACT [] synonym: "disorder of basal ganglia" RELATED [MONDO:patterns/location_top] synonym: "disorder of collection of basal ganglia" EXACT [MONDO:patterns/location_top] xref: CSP:2057-3403 {source="DOID:679"} xref: DOID:679 {source="MONDO:equivalentTo"} xref: ICD10:G23 xref: ICD9:333.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D001480 {source="DOID:679", source="MONDO:equivalentTo"} xref: MeSH:D001480 xref: MONDO:0003996 xref: SCTID:70835005 {source="DOID:679", source="MONDO:equivalentTo"} xref: UMLS:C0004782 {source="DOID:679", source="MONDO:equivalentTo"} is_a: EFO:0005774 {source="DOID:679", source="MESH:D001480", source="MONDO:Redundant"} ! brain disease property_value: definition:citation CSP:2057-3403 xsd:string property_value: definition:citation SCTID:70835005 xsd:string property_value: exactMatch DOID:679 property_value: exactMatch http://identifiers.org/mesh/D001480 property_value: exactMatch http://identifiers.org/snomedct/70835005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004782 [Term] id: EFO:0009534 name: biliary tract disease def: "A disease involving the biliary tree." [https://orcid.org/0000-0002-6601-2165] synonym: "biliary tract disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "biliary tree disease" EXACT [MONDO:patterns/location] synonym: "biliary tree disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "disease of biliary tree" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of biliary tree" EXACT [] synonym: "disorder of biliary tree" EXACT [MONDO:patterns/location_top] xref: DOID:9741 {source="MONDO:equivalentTo"} xref: ICD10:K83 xref: ICD10:K83.9 xref: ICD9:576.9 {source="DOID:9741"} xref: MedDRA:10004676 xref: MESH:D001660 {source="MONDO:equivalentTo", source="DOID:9741"} xref: MeSH:D001660 xref: MONDO:0004868 xref: SCTID:105997008 {source="MONDO:equivalentTo", source="DOID:9741"} is_a: EFO:0010284 {source="DOID:9741", source="MONDO:Entailed", source="MONDO:Redundant"} ! hepatobiliary disease property_value: definition:citation SCTID:105997008 xsd:string property_value: exactMatch DOID:9741 property_value: exactMatch http://identifiers.org/mesh/D001660 property_value: exactMatch http://identifiers.org/snomedct/105997008 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009535 name: binocular vision disease def: "Any inability to efficiently utilize and/or sustain binocular vision." [NCIT:P378] synonym: "binocular vision disease" EXACT [] {comment="preferred label from MONDO"} synonym: "binocular vision disorder" EXACT [NCIT:C34422] synonym: "simultaneous visual perception without fusion" NARROW [DOID:12667] xref: DOID:12667 {source="MONDO:equivalentTo"} xref: ICD10:H51 xref: ICD10:H53.30 xref: ICD9:368.30 {source="DOID:12667", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MONDO:0001564 xref: NCIT:C34422 {source="DOID:12667", source="MONDO:equivalentTo"} xref: NCIt:C34422 xref: SCTID:83275001 {source="DOID:12667", source="MONDO:equivalentTo"} is_a: EFO:1001990 ! ocular motility disease is_a: MONDO:0021084 {source="NCIT:C34422/inferred"} ! vision disorder property_value: definition:citation SCTID:83275001 xsd:string property_value: exactMatch DOID:12667 property_value: exactMatch http://identifiers.org/snomedct/83275001 property_value: exactMatch NCIT:C34422 [Term] id: EFO:0009536 name: blepharitis def: "Inflammation of the eyelids near the eyelashes." [NCIT:P378] synonym: "blepharitis" EXACT [] {comment="preferred label from MONDO"} synonym: "eyelid inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "inflammation of eyelid" EXACT [] xref: DOID:9423 {source="MONDO:equivalentTo"} xref: HP:0000498 xref: ICD10:H01 xref: ICD10:H01.9 xref: ICD10CM:H01.0 {source="MONDO:equivalentTo", source="DOID:9423"} xref: ICD9:373.0 {source="DOID:9423"} xref: ICD9:373.00 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9423"} xref: ICD9:373.4 {source="DOID:9423"} xref: ICD9:373.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:373.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9423"} xref: MedDRA:10005148 xref: MedDRA:10005150 xref: MESH:D001762 {source="MONDO:equivalentTo", source="DOID:9423"} xref: MeSH:D001762 xref: MONDO:0004785 xref: NCIT:C112183 {source="MONDO:equivalentTo", source="DOID:9423"} xref: NCIt:C112183 xref: SCTID:41446000 {source="MONDO:equivalentTo", source="DOID:9423"} xref: UMLS:C0005741 {source="NCIT:C112183", source="MONDO:equivalentTo", source="DOID:9423"} is_a: EFO:0009547 {source="DOID:9423", source="MESH:D001762", source="MONDO:Redundant"} ! eyelid disease is_a: EFO:0009903 {source="MONDO:Redundant"} ! inflammatory disease property_value: definition:citation COHD:378425 xsd:string property_value: definition:citation SCTID:41446000 xsd:string property_value: exactMatch DOID:9423 property_value: exactMatch http://identifiers.org/mesh/D001762 property_value: exactMatch http://identifiers.org/snomedct/41446000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005741 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H01.0 property_value: exactMatch NCIT:C112183 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009537 name: cervical disc degenerative disorder def: "Any degenerative disorder affecting one or more vertebral discs of the cervical spine." [] def: "Any degenerative disorder affecting one or more vertebral disks of the cervical spine." [NCIT:C27156] synonym: "cervical Disc Degeneration" EXACT [NCIT:C27156] synonym: "cervical Disc degenerative disease" EXACT [NCIT:C27156] synonym: "cervical Disc degenerative disorder" EXACT [NCIT:C27156] synonym: "cervical disk degenerative disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "cervical region of vertebral column intervertebral disc degenerative disorder" EXACT OMO:0003005 [] synonym: "cervical region of vertebral column intervertebral disk degenerative disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "degeneration of cervical intervertebral disc" EXACT OMO:0003005 [] synonym: "degeneration of cervical intervertebral disk" EXACT [] synonym: "intervertebral disc degenerative disorder of cervical region of vertebral column" EXACT OMO:0003005 [] synonym: "intervertebral disk degenerative disorder of cervical region of vertebral column" EXACT [MONDO:design_pattern] xref: ICD10:M50 xref: MONDO:0044343 xref: NCIT:C27156 {source="MONDO:equivalentTo"} xref: NCIt:C27156 xref: SCTID:69195002 {source="MONDO:equivalentTo"} xref: UMLS:C0158262 {source="MONDO:equivalentTo"} xref: UMLS:C0410606 {source="MONDO:equivalentTo"} is_a: EFO:0000524 ! head and neck disorder is_a: EFO:0004994 {source="MONDO:Redundant", source="NCIT:C27156"} ! lumbar disc degeneration property_value: definition:citation SCTID:69195002 xsd:string property_value: exactMatch http://identifiers.org/snomedct/69195002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0158262 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0410606 property_value: exactMatch NCIT:C27156 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009538 name: chronic inflammatory demyelinating polyneuropathy def: "A form of Guillain-Barre syndrome (GBS) that occurs in persons or families with a genetic predisposition to the acute or chronic forms of GBS. Note that GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors, and families with clear Mendelian inheritance have been rarely reported: a mutation in the PMP22 gene (601097) on chromosome 17 was identified in a single family with the acute (AIDP) and chronic (CIDP) forms of inflammatory demyelinating polyneuropathy." [https://orcid.org/0000-0002-0736-9199] def: "Chronic inflammatory demyelinating polyneuropathy (CIDP) is a chronic monophasic, progressive or relapsing symmetric sensorimotor disorder characterized by progressive muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins." [] subset: ordo_disease {source="Orphanet:2932"} synonym: "AIDP" EXACT ABBREVIATION [OMIM:139393] synonym: "chronic inflammatory demyelinating polyneuropathy" EXACT [] synonym: "chronic inflammatory demyelinating polyradiculoneuropathy" EXACT [] synonym: "CIDP" EXACT [] synonym: "GBS" RELATED ABBREVIATION [OMIM:139393] synonym: "Guillain-Barre syndrome, familial" EXACT [OMIM:139393] synonym: "Guillain-Barre syndrome, familial" EXACT [] {comment="preferred label from MONDO"} synonym: "neuropathy, inflammatory demyelinating" EXACT [OMIM:139393, OMIM:genemap2] synonym: "polyneuropathy, inflammatory demyelinating, acute" EXACT [OMIM:139393] xref: ICD10:G61 xref: ICD10:G61.8 xref: MedDRA:10057645 {source="Orphanet:2932", source="Orphanet:2932/e"} xref: MedDRA:10077384 xref: MONDO:0007691 xref: OMIM:139393 {source="DOID:12842", source="MONDO:equivalentTo"} xref: Orphanet:2932 {source="MONDO:relatedTo"} xref: SCTID:40956001 {source="DOID:12842", source="MONDO:relatedTo"} xref: SCTID:716723000 {source="MONDO:equivalentTo"} is_a: EFO:0007292 {source="OMIM:139393", source="https://orcid.org/0000-0001-5208-3432"} ! Guillain-Barre syndrome is_a: EFO:0009714 ! chronic disease is_a: EFO:1001116 ! polyradiculoneuropathy relationship: has_characteristic MONDO:0021136 {source="MONDO:0020008"} ! rare relationship: has_modifier HP:0011010 ! Chronic property_value: closeMatch http://identifiers.org/meddra/10057645 property_value: definition:citation GARD:0006102 xsd:string property_value: definition:citation SCTID:716723000 xsd:string property_value: exactMatch http://identifiers.org/snomedct/716723000 property_value: exactMatch https://omim.org/entry/139393 property_value: excluded_subClassOf MONDO:0016170 {source="Orphanet:2932"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3467 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: EFO:0009539 name: congenital mitral malformation subset: disease_grouping subset: gard_rare {source="GARD:0001495"} subset: ordo_group_of_disorders {source="Orphanet:2447"} synonym: "congenital mitral malformation" EXACT [] {comment="preferred label from MONDO"} xref: ICD10:Q23 xref: MONDO:0016582 xref: Orphanet:2447 {source="MONDO:equivalentTo"} is_a: MONDO:0020288 {source="Orphanet:2447"} ! atrioventricular valve anomaly relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: definition:citation GARD:0001495 xsd:string property_value: exactMatch Orphanet:2447 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1495/congenital-mitral-malformation xsd:anyURI {source="GARD:0001495"} [Term] id: EFO:0009540 name: dental pulp disease def: "A disease involving the dental pulp." [https://orcid.org/0000-0002-6601-2165] synonym: "dental pulp disease" EXACT [MONDO:patterns/location] synonym: "dental pulp disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "dental pulp disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "dental pulp disorder" EXACT [DOID:5330, NCIT:C34530] synonym: "disease of dental pulp" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of dental pulp" EXACT [] synonym: "disorder of dental pulp" EXACT [MONDO:patterns/location_top] synonym: "disorder of pulp of tooth" EXACT [DOID:5330] synonym: "pulp disorder" EXACT [DOID:5330] xref: DOID:5330 {source="MONDO:equivalentTo"} xref: ICD10:K04 xref: ICD9:522.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D003788 {source="MONDO:equivalentTo", source="DOID:5330"} xref: MeSH:D003788 xref: MONDO:0003394 xref: NCIT:C34530 {source="MONDO:equivalentTo", source="DOID:5330"} xref: NCIt:C34530 xref: SCTID:57203004 {source="MONDO:equivalentTo", source="DOID:5330"} xref: UMLS:C0011405 {source="MONDO:equivalentTo", source="NCIT:C34530", source="DOID:5330"} is_a: EFO:1001216 {source="DOID:5330", source="MESH:D003788", source="MONDO:Redundant", source="NCIT:C34530"} ! tooth disease property_value: definition:citation SCTID:57203004 xsd:string property_value: exactMatch DOID:5330 property_value: exactMatch http://identifiers.org/mesh/D003788 property_value: exactMatch http://identifiers.org/snomedct/57203004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011405 property_value: exactMatch NCIT:C34530 property_value: excluded_subClassOf MONDO:0003900 {source="DOID:5330", source="MONDO:Redundant"} property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009541 name: disease of peritoneum def: "A non-neoplastic or neoplastic disorder that affects the peritoneal cavity. Representative examples of non-neoplastic disorders include peritonitis and panniculitis. Representative examples of neoplastic disorders include adenomatoid tumor, primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma." [] synonym: "disease of peritoneum" EXACT [] synonym: "disease or disorder of peritoneum" EXACT [] synonym: "disorder of peritoneum" EXACT [] synonym: "peritoneal disease" EXACT [] synonym: "peritoneal disorder" EXACT [] synonym: "peritoneum disease" EXACT [] synonym: "peritoneum disease or disorder" EXACT [] xref: ICD10:K66 xref: MeSH:D010532 xref: MONDO:0020591 xref: NCIt:C26848 xref: UMLS:C0031142 is_a: EFO:0000405 ! digestive system disease property_value: definition:citation SCTID:66579008 xsd:string property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009542 name: disorder of appendix def: "A disease or disorder that involves the vermiform appendix." [MONDO:patterns/location] synonym: "appendiceal disease" EXACT [] synonym: "appendix disease" EXACT [] synonym: "disease of appendix" EXACT [] synonym: "disease of vermiform appendix" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of vermiform appendix" EXACT [] synonym: "disorder of appendix" EXACT [] {comment="preferred label from MONDO"} synonym: "disorder of vermiform appendix" EXACT [MONDO:patterns/location_top] synonym: "vermiform appendix disease" EXACT [] synonym: "vermiform appendix disease or disorder" EXACT [MONDO:patterns/location] xref: DOID:60000 {source="MONDO:equivalentTo"} xref: ICD10:K38 xref: ICD10CM:K35-K38 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:543.9 xref: MONDO:0056798 xref: SCTID:18526009 {source="MONDO:equivalentTo"} xref: UMLS:C0267613 {source="MONDO:equivalentTo"} is_a: MONDO:0024634 ! large intestine disorder property_value: definition:citation SCTID:18526009 xsd:string property_value: exactMatch DOID:60000 property_value: exactMatch http://identifiers.org/snomedct/18526009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267613 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K35-K38 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009543 name: disturbances of sensation of smell and taste def: "taste alteration" [] synonym: "disturbance of sensation of smell and taste" EXACT [] synonym: "disturbance of smell and taste" EXACT [] xref: ICD10:R43 xref: MedDRA:10013516 xref: UMLS:C0495689 is_a: HP:0000223 ! Abnormality of taste sensation is_a: HP:0004408 ! Abnormality of the sense of smell property_value: definition:citation SYMP:0000551 xsd:string property_value: definition:citation SyOID:18942 xsd:string [Term] id: EFO:0009544 name: esophageal disease def: "A non-neoplastic or neoplastic disorder that affects the esophagus. Representative examples of non-neoplastic disorders include esophagitis and esophageal ulcer. Representative examples of neoplastic disorders include carcinomas, lymphomas, and melanomas." [NCIT:C3027] subset: rare_grouping synonym: "disease of esophagus" EXACT [MONDO:patterns/location_top] synonym: "disease of oesophagus" EXACT OMO:0003005 [] synonym: "disease or disorder of esophagus" EXACT [] synonym: "disease or disorder of oesophagus" EXACT OMO:0003005 [] synonym: "disorder of esophagus" EXACT [MONDO:patterns/location_top] synonym: "disorder of oesophagus" EXACT OMO:0003005 [] synonym: "esophageal disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "esophageal disorder" EXACT [NCIT:C3027] synonym: "esophageal ulcer" NARROW [DOID:6050, NCIT:C26950] synonym: "esophagus disease" EXACT [MONDO:patterns/location] synonym: "esophagus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "oesophagus disease" EXACT OMO:0003005 [] synonym: "oesophagus disease or disorder" EXACT OMO:0003005 [] xref: DOID:6050 {source="MONDO:equivalentTo"} xref: ICD10:K22 xref: ICD10:K22.9 xref: ICD9:530 {source="DOID:6050"} xref: ICD9:530.2 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:530.20 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:530.9 {source="DOID:6050"} xref: MESH:D004935 {source="MONDO:equivalentTo", source="DOID:6050"} xref: MeSH:D004935 xref: MONDO:0003749 xref: NCIT:C3027 {source="MONDO:equivalentTo", source="DOID:6050"} xref: NCIt:C3027 xref: SCTID:30811009 {source="MONDO:equivalentTo"} xref: SCTID:37657006 {source="MONDO:equivalentTo", source="DOID:6050"} xref: UMLS:C0014852 {source="MONDO:equivalentTo", source="DOID:6050"} is_a: EFO:0000405 {source="DOID:6050", source="MESH:D004935", source="NCIT:C3027"} ! digestive system disease is_a: MONDO:0044991 ! upper digestive tract disorder property_value: definition:citation SCTID:30811009 xsd:string property_value: definition:citation SCTID:37657006 xsd:string property_value: exactMatch DOID:6050 property_value: exactMatch http://identifiers.org/mesh/D004935 property_value: exactMatch http://identifiers.org/snomedct/30811009 property_value: exactMatch http://identifiers.org/snomedct/37657006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014852 property_value: exactMatch NCIT:C3027 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009545 name: esophageal varices def: "Abnormally dilated veins of the esophagus." [NCIT:C53506] synonym: "bleeding esophageal varices" NARROW [DOID:112] synonym: "bleeding oesophageal varices" NARROW [DOID:112] synonym: "esophageal varices" EXACT [DOID:112, NCIT:C53506] synonym: "esophageal varices" EXACT [] {comment="preferred label from MONDO"} synonym: "esophageal varices in disease classified elsewhere, with bleeding" EXACT [DOID:112] synonym: "esophageal varices with bleeding" EXACT [] synonym: "esophageal varices with bleeding in disease EC" EXACT [DOID:112] synonym: "esophageal varices without bleeding" EXACT [] synonym: "esophageal varices without mention of bleeding" EXACT [DOID:112] synonym: "esophageal varix" EXACT [NCIT:C53506] synonym: "esophagus varicose disease" EXACT [MONDO:patterns/location] synonym: "oesophagus varicose disease" EXACT OMO:0003005 [] synonym: "varicose disease of esophagus" EXACT [MONDO:design_pattern] synonym: "varicose disease of oesophagus" EXACT OMO:0003005 [] xref: DOID:112 {source="MONDO:equivalentTo"} xref: ICD10:I85 xref: ICD10:I85.01 xref: ICD10CM:I85 {source="MONDO:equivalentTo"} xref: ICD9:456.0 {source="DOID:112"} xref: ICD9:456.2 {source="DOID:112"} xref: ICD9:456.20 {source="DOID:112"} xref: MedDRA:10015452 xref: MESH:D004932 {source="MONDO:equivalentTo"} xref: MeSH:D004932 xref: MONDO:0001221 xref: NCIT:C53506 {source="MONDO:equivalentTo"} xref: NCIt:C53506 xref: SCTID:28670008 {source="MONDO:equivalentTo"} is_a: EFO:0009544 {source="DOID:112", source="MESH:D004932", source="MONDO:Redundant", source="NCIT:C53506/inferred"} ! esophageal disease is_a: MONDO:0008638 ! varicose disease property_value: definition:citation GARD:0006384 xsd:string property_value: definition:citation SCTID:28670008 xsd:string property_value: exactMatch DOID:112 property_value: exactMatch http://identifiers.org/mesh/D004932 property_value: exactMatch http://identifiers.org/snomedct/28670008 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/I85 property_value: exactMatch NCIT:C53506 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009546 name: eye adnexa disease def: "A disease involving the ocular adnexa." [MONDO:patterns/location_top] synonym: "disease of ocular adnexa" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of ocular adnexa" EXACT [] synonym: "disorder of ocular adnexa" EXACT [MONDO:patterns/location_top] synonym: "eye adnexa disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "ocular adnexa disease" EXACT [MONDO:patterns/location] synonym: "ocular adnexa disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:0050815 {source="MONDO:equivalentObsolete"} xref: ICD10:H00.H06 xref: ICD10:H57 xref: ICD10:H58 xref: ICD10:H59 xref: ICD10WHO:H00-H06 {source="MONDO:equivalentTo"} xref: MONDO:0000462 xref: Orphanet:519266 {source="MONDO:mondoIsBroaderThanSource"} xref: SCTID:118941004 {source="MONDO:equivalentTo"} xref: UMLS:C1290855 {source="MONDO:equivalentTo"} is_a: EFO:0003966 ! eye disease is_a: EFO:0009664 {source="DOID:0050815", source="ICD10CM:H00-H06", source="MONDO:Redundant"} ! disease of orbital region property_value: definition:citation SCTID:118941004 xsd:string property_value: exactMatch http://identifiers.org/snomedct/118941004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1290855 property_value: exactMatch https://icd.who.int/browse10/2019/en#/H00-H06 property_value: narrowMatch Orphanet:519266 [Term] id: EFO:0009547 name: eyelid disease def: "A disease involving the eyelid." [https://orcid.org/0000-0002-6601-2165] synonym: "disease of eyelid" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of eyelid" EXACT [] synonym: "disorder of eyelid" EXACT [MONDO:patterns/location_top] synonym: "eyelid disease" EXACT [MONDO:patterns/location] synonym: "eyelid disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "eyelid disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "eyelid disorder" EXACT [NCIT:C26768] xref: DOID:530 {source="MONDO:equivalentTo"} xref: ICD10:H00 xref: ICD10:H02 xref: ICD10:H02.9 xref: ICD10:H03 xref: ICD10CM:H00 {source="MONDO:equivalentTo"} xref: ICD9:374.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:374.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:530"} xref: MESH:D005141 {source="MONDO:equivalentTo", source="DOID:530"} xref: MeSH:D005141 xref: MONDO:0003382 xref: NCIT:C26768 {source="MONDO:equivalentTo", source="DOID:530"} xref: NCIt:C26768 xref: SCTID:60113004 {source="MONDO:equivalentTo", source="DOID:530"} is_a: EFO:0003966 {source="MESH:D005141", source="MONDO:Entailed", source="NCIT:C26768"} ! eye disease is_a: EFO:0009546 {source="DOID:530", source="ICD10CM:H00"} ! eye adnexa disease property_value: definition:citation SCTID:60113004 xsd:string property_value: exactMatch DOID:530 property_value: exactMatch http://identifiers.org/mesh/D005141 property_value: exactMatch http://identifiers.org/snomedct/60113004 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H00 property_value: exactMatch NCIT:C26768 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009548 name: fallopian tube disease def: "A disease involving the fallopian tube." [https://orcid.org/0000-0002-6601-2165] synonym: "disease of fallopian tube" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of fallopian tube" EXACT [] synonym: "disorder of fallopian tube" EXACT [MONDO:patterns/location_top] synonym: "fallopian tube disease" EXACT [MONDO:patterns/location, NCIT:C26771] synonym: "fallopian tube disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "fallopian tube disorder" EXACT [NCIT:C26771] synonym: "fallopian tube disorder" EXACT [] {comment="preferred label from MONDO"} xref: DOID:1962 {source="MONDO:equivalentTo"} xref: ICD10:N83 xref: MESH:D005184 {source="DOID:1962", source="MONDO:equivalentTo"} xref: MeSH:D005184 xref: MONDO:0002156 xref: NCIT:C26771 {source="DOID:1962", source="MONDO:equivalentTo"} xref: NCIt:C26771 xref: SCTID:128134005 {source="DOID:1962", source="MONDO:equivalentTo"} xref: UMLS:C0015556 {source="NCIT:C26771", source="DOID:1962", source="MONDO:equivalentTo"} is_a: EFO:0009549 {source="DOID:1962", source="MESH:D005184/inferred", source="MONDO:Redundant", source="NCIT:C26771"} ! female reproductive system disease property_value: definition:citation SCTID:128134005 xsd:string property_value: exactMatch DOID:1962 property_value: exactMatch http://identifiers.org/mesh/D005184 property_value: exactMatch http://identifiers.org/snomedct/128134005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015556 property_value: exactMatch NCIT:C26771 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009549 name: female reproductive system disease def: "A disease involving the female reproductive system." [https://orcid.org/0000-0002-6601-2165] synonym: "disease of female genital system" RELATED [] synonym: "disease of female reproductive system" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of female reproductive system" EXACT [] synonym: "disorder of female genital system" EXACT [] synonym: "disorder of female genital tract" RELATED [] synonym: "disorder of female reproductive system" EXACT [MONDO:patterns/location_top] synonym: "female reproductive disease" EXACT [DOID:229] synonym: "female reproductive system disease" EXACT [MONDO:patterns/location, NCIT:C27020] synonym: "female reproductive system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "female reproductive system disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "female reproductive system disorder" EXACT [NCIT:C27020] synonym: "gynaecological disease" RELATED OMO:0003005 [] synonym: "gynecological disease" RELATED [] xref: DOID:229 {source="MONDO:equivalentTo"} xref: ICD10:N85 xref: ICD10:N88 xref: ICD10:N89 xref: ICD10:N90 xref: ICD10:N94 xref: ICD9:629.9 {source="DOID:229"} xref: MESH:D005831 {source="DOID:229", source="MONDO:equivalentTo"} xref: MeSH:D005831 xref: MONDO:0002263 xref: NCIT:C27020 {source="MONDO:equivalentTo"} xref: NCIt:C27020 xref: SCTID:310789003 {source="DOID:229", source="MONDO:equivalentTo"} is_a: EFO:0000512 {source="DOID:229", source="MONDO:Redundant", source="NCIT:C27020"} ! reproductive system disease property_value: definition:citation SCTID:310789003 xsd:string property_value: exactMatch DOID:229 property_value: exactMatch http://identifiers.org/mesh/D005831 property_value: exactMatch http://identifiers.org/snomedct/310789003 property_value: exactMatch NCIT:C27020 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009550 name: headache disorder def: "Various conditions with the symptom of headache. Headache disorders are classified into major groups, such as primary headache disorders (based on characteristics of their headache symptoms) and secondary headache disorders (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)" [MESH:D020773] synonym: "cephalgia syndrome" RELATED [MESH:D020773] synonym: "cephalgia syndromes" RELATED [MESH:D020773] synonym: "chronic daily headache" RELATED [MESH:D020773] synonym: "chronic daily headaches" RELATED [MESH:D020773] synonym: "chronic headache" RELATED [MESH:D020773] synonym: "chronic headaches" RELATED [MESH:D020773] synonym: "daily headache, chronic" RELATED [MESH:D020773] synonym: "daily headaches, chronic" RELATED [MESH:D020773] synonym: "headache disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "headache disorder" EXACT [MESH:D020773] synonym: "headache syndrome" RELATED [MESH:D020773] synonym: "headache syndromes" RELATED [MESH:D020773] synonym: "headache, chronic" RELATED [MESH:D020773] synonym: "headache, chronic daily" RELATED [MESH:D020773] synonym: "headache, intractable" RELATED [MESH:D020773] synonym: "headaches, chronic" RELATED [MESH:D020773] synonym: "headaches, chronic daily" RELATED [MESH:D020773] synonym: "headaches, intractable" RELATED [MESH:D020773] synonym: "intractable headache" RELATED [MESH:D020773] synonym: "intractable headaches" RELATED [MESH:D020773] synonym: "syndrome, headache" RELATED [MESH:D020773] xref: ICD10:G44 xref: MESH:D020773 {source="MONDO:equivalentTo"} xref: MeSH:D020773 xref: MONDO:0021146 xref: SCTID:230461009 {source="MONDO:equivalentTo"} is_a: EFO:0009386 ! central nervous system disease is_a: MONDO:0700057 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-0736-9199", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-6601-2165"} ! neurological pain disorder property_value: definition:citation COHD:375527 xsd:string property_value: definition:citation SCTID:230461009 xsd:string property_value: exactMatch http://identifiers.org/mesh/D020773 property_value: exactMatch http://identifiers.org/snomedct/230461009 property_value: excluded_subClassOf MONDO:0005560 {source="MESH:D020773"} property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009551 name: heart valve disease def: "A disease involving the cardial valve." [https://orcid.org/0000-0002-6601-2165] synonym: "cardial valve disease" EXACT [MONDO:patterns/location] synonym: "cardial valve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "disease of cardial valve" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of cardial valve" EXACT [] synonym: "disorder of cardial valve" EXACT [MONDO:patterns/location_top] synonym: "disorder of heart valve" EXACT [NCIT:C45525] synonym: "heart valve disorder" EXACT [NCIT:C45525] synonym: "heart valve disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "valvular heart disease" EXACT [DOID:4079] synonym: "valvular heart disorder" EXACT [NCIT:C45525] xref: DOID:4079 {source="MONDO:equivalentTo"} xref: ICD10:I08 xref: ICD9:424.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10061406 xref: MESH:D006349 {source="DOID:4079", source="MONDO:equivalentTo"} xref: MeSH:D006349 xref: MONDO:0002869 xref: NCIT:C45525 {source="DOID:4079", source="MONDO:equivalentTo"} xref: NCIt:C45525 xref: SCTID:368009 {source="DOID:4079", source="MONDO:equivalentTo"} xref: UMLS:C0018824 {source="DOID:4079", source="MONDO:equivalentTo", source="NCIT:C45525"} is_a: EFO:0003777 {source="DOID:4079", source="MESH:D006349", source="MONDO:Redundant", source="NCIT:C45525/inferred"} ! heart disease property_value: definition:citation SCTID:368009 xsd:string property_value: exactMatch DOID:4079 property_value: exactMatch http://identifiers.org/mesh/D006349 property_value: exactMatch http://identifiers.org/snomedct/368009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018824 property_value: exactMatch NCIT:C45525 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009552 name: hemorrhoid def: "Dilated veins in the anal canal." [NCIT:C26792] synonym: "Haemorrhoids" EXACT OMO:0003005 [] synonym: "hemorrhoid" EXACT [NCIT:C26792] synonym: "hemorrhoid" EXACT [] {comment="preferred label from MONDO"} synonym: "hemorrhoidal disease" EXACT [DOID:9746] synonym: "Hemorrhoids" EXACT [NCIT:C26792] xref: DOID:9746 {source="MONDO:equivalentTo"} xref: ICD10:I84 xref: ICD10:K64 xref: ICD9:455 {source="DOID:9746"} xref: ICD9:455.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D006484 {source="DOID:9746", source="MONDO:equivalentTo"} xref: MeSH:D006484 xref: MONDO:0004872 xref: NCIT:C26792 {source="DOID:9746", source="MONDO:equivalentTo"} xref: NCIt:C26792 xref: SCTID:70153002 {source="DOID:9746", source="MONDO:equivalentTo"} xref: UMLS:C0019112 {source="DOID:9746", source="NCIT:C26792", source="MONDO:equivalentTo"} is_a: MONDO:0004869 {source="DOID:9746"} ! pelvic varices property_value: definition:citation SCTID:70153002 xsd:string property_value: exactMatch DOID:9746 property_value: exactMatch http://identifiers.org/mesh/D006484 property_value: exactMatch http://identifiers.org/snomedct/70153002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019112 property_value: exactMatch NCIT:C26792 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009553 name: HIV-associated cancer subset: ordo_clinical_situation {source="Orphanet:443291"} synonym: "HIV-associated cancer" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "HIV-associated cancer" EXACT [] {comment="preferred label from MONDO"} synonym: "HIV-related cancer" EXACT [Orphanet:443291] xref: MONDO:0018628 xref: Orphanet:443291 {source="MONDO:equivalentTo"} xref: UMLS:CN237671 {source="MONDO:equivalentTo"} is_a: EFO:0009528 ! AIDS-related disease is_a: MONDO:0017341 {source="Orphanet:443291"} ! virus associated tumor intersection_of: EFO:0009528 ! AIDS-related disease intersection_of: disease_has_feature MONDO:0004992 ! cancer relationship: disease_has_feature MONDO:0004992 ! cancer property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237671 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237671 property_value: exactMatch Orphanet:443291 [Term] id: EFO:0009554 name: malabsorption syndrome def: "A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea." [NCIT:C3214] synonym: "malabsorption" EXACT [NCIT:C3214] synonym: "malabsorption syndrome" EXACT [NCIT:C3214] synonym: "malabsorption syndrome" EXACT [] {comment="preferred label from MONDO"} xref: ICD10:K90 xref: MedDRA:10025479 xref: MESH:D008286 {source="MONDO:equivalentTo"} xref: MeSH:D008286 xref: MONDO:0020598 xref: NCIT:C3214 {source="MONDO:equivalentTo"} xref: NCIt:C3214 xref: SCTID:32230006 {source="MONDO:equivalentTo"} xref: UMLS:C0024523 {source="MONDO:equivalentTo"} is_a: EFO:0009431 ! intestinal disease property_value: definition:citation SCTID:32230006 xsd:string property_value: exactMatch http://identifiers.org/mesh/D008286 property_value: exactMatch http://identifiers.org/snomedct/32230006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024523 property_value: exactMatch NCIT:C3214 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009555 name: male reproductive system disease def: "A disease involving the male reproductive system." [https://orcid.org/0000-0002-6601-2165] synonym: "disease of male reproductive system" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of male reproductive system" EXACT [] synonym: "disorder of Male reproductive system" EXACT [NCIT:C27019] synonym: "disorder of male reproductive system" EXACT [MONDO:patterns/location_top] synonym: "male reproductive disease" EXACT [DOID:48] synonym: "Male reproductive system disease" EXACT [NCIT:C27019] synonym: "male reproductive system disease" EXACT [MONDO:patterns/location] synonym: "male reproductive system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "Male reproductive system disorder" EXACT [NCIT:C27019] synonym: "male reproductive system disorder" EXACT [] {comment="preferred label from MONDO"} xref: DOID:48 {source="MONDO:equivalentTo"} xref: ICD10:N40.N51 xref: ICD10:N48 xref: ICD10:N49 xref: ICD10:N50 xref: ICD10:N50.9 xref: ICD10:N51 xref: ICD10CM:N40-N53 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10WHO:N40-N51 {source="MONDO:equivalentTo"} xref: ICD9:600-608.99 {source="DOID:48"} xref: ICD9:608.9 {source="DOID:48"} xref: MESH:D005832 {source="DOID:48", source="MONDO:equivalentTo"} xref: MeSH:D005832 xref: MONDO:0003150 xref: NCIT:C27019 {source="MONDO:equivalentTo"} xref: NCIt:C27019 xref: SCTID:363194005 {source="MONDO:equivalentTo"} is_a: EFO:0000512 {source="DOID:48", source="MONDO:Redundant", source="NCIT:C27019"} ! reproductive system disease property_value: definition:citation SCTID:363194005 xsd:string property_value: exactMatch DOID:48 property_value: exactMatch http://identifiers.org/mesh/D005832 property_value: exactMatch http://identifiers.org/snomedct/363194005 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/N40-N53 property_value: exactMatch https://icd.who.int/browse10/2019/en#/N40-N51 property_value: exactMatch NCIT:C27019 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009556 name: mineral metabolism disease def: "Abnormal levels of minerals in the blood." [] synonym: "disease of mineral metabolism" EXACT [] synonym: "disorder of mineral metabolism" EXACT [] synonym: "mineral metabolism disease" EXACT [] {comment="preferred label from MONDO"} xref: ICD10:E83 xref: ICD10CM:E83 {source="MONDO:equivalentTo"} xref: ICD9:275.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:275.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MONDO:0000226 xref: SCTID:45744005 {source="MONDO:equivalentTo"} is_a: EFO:0000589 {source="ICD10CM:E83", source="MONDO:cjm"} ! metabolic disease property_value: exactMatch http://identifiers.org/snomedct/45744005 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E83 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009557 name: mitral valve disease def: "A disease involving the mitral valve." [https://orcid.org/0000-0002-6601-2165] synonym: "chronic rheumatic mitral valve" EXACT [DOID:61] synonym: "disease of mitral valve" EXACT [DOID:61, ICD9CM:394, MONDO:patterns/location_top] synonym: "disease or disorder of mitral valve" EXACT [] synonym: "disorder of mitral valve" EXACT [MONDO:patterns/location_top] synonym: "mitral RH valve dis." EXACT [DOID:61] synonym: "mitral valve disease" EXACT [MONDO:patterns/location] synonym: "mitral valve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "mitral valve disorder" EXACT [NCIT:C78446] synonym: "mitral valve disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "rheumatic disease of mitral valve" NARROW [DOID:61] synonym: "rheumatic mitral insufficiency" NARROW [DOID:61, ICD9CM:394.1] synonym: "rheumatic mitral valve changes" NARROW [DOID:61] synonym: "rheumatic mitral valve incompetence" NARROW [DOID:61] synonym: "rheumatic mitral valve regurgitation" NARROW [DOID:61] xref: DOID:61 {source="MONDO:equivalentTo"} xref: ICD10:I05 xref: ICD10:I05.1 xref: ICD10:I05.9 xref: ICD10:I34 xref: ICD9:394 {source="DOID:61"} xref: ICD9:394.1 {source="DOID:61"} xref: ICD9:394.9 xref: ICD9:424.0 {source="DOID:61"} xref: MedDRA:10061532 xref: MONDO:0003767 xref: NCIT:C78446 {source="MONDO:equivalentTo", source="DOID:61"} xref: NCIt:C78446 xref: SCTID:11851006 {source="MONDO:equivalentTo", source="DOID:61"} xref: UMLS:C0026265 {source="MONDO:equivalentTo", source="NCIT:C78446", source="DOID:61"} xref: UMLS:C2939153 {source="MONDO:equivalentTo"} is_a: EFO:0009551 {source="DOID:61", source="MONDO:Redundant", source="NCIT:C78446"} ! heart valve disease property_value: definition:citation SCTID:11851006 xsd:string property_value: exactMatch DOID:61 property_value: exactMatch http://identifiers.org/snomedct/11851006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026265 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2939153 property_value: exactMatch NCIT:C78446 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009558 name: mononeuropathy def: "Disease or trauma involving a single peripheral nerve in isolation, or out of proportion to evidence of diffuse peripheral nerve dysfunction. Mononeuropathy multiplex refers to a condition characterized by multiple isolated nerve injuries. Mononeuropathies may result from a wide variety of causes, including ischemia; traumatic injury; compression; connective tissue diseases; cumulative trauma disorders; and other conditions." [MESH:D020422] synonym: "mononeuropathy" EXACT [] {comment="preferred label from MONDO"} xref: DOID:1188 {source="MONDO:equivalentTo"} xref: ICD10:G56 xref: ICD10:G57 xref: ICD10:G58 xref: ICD10:G58.9 xref: MedDRA:10062203 xref: MESH:D020422 {source="DOID:1188", source="MONDO:equivalentTo"} xref: MeSH:D020422 xref: MONDO:0001397 xref: SCTID:128189008 {source="DOID:1188", source="MONDO:equivalentTo"} xref: UMLS:C0494491 {source="DOID:1188", source="MONDO:equivalentTo"} is_a: EFO:0003100 {source="DOID:1188"} ! peripheral neuropathy property_value: definition:citation COHD:4134455 xsd:string property_value: definition:citation SCTID:128189008 xsd:string property_value: exactMatch DOID:1188 property_value: exactMatch http://identifiers.org/mesh/D020422 property_value: exactMatch http://identifiers.org/snomedct/128189008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0494491 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009559 name: nerve plexus disease def: "A disease that involves the nerve plexus." [MONDO:patterns/location] synonym: "disease of nerve plexus" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of nerve plexus" EXACT [] synonym: "disorder of nerve plexus" EXACT [MONDO:patterns/location_top] synonym: "nerve plexus disease" EXACT [MONDO:patterns/location] synonym: "nerve plexus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "nerve plexus disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "plexopathy" EXACT [MONDO:cjm] xref: DOID:3688 {source="MONDO:equivalentTo"} xref: ICD10:G54 xref: MONDO:0024432 xref: NCIT:C27744 {source="MONDO:equivalentTo", source="DOID:3688"} xref: NCIt:C27744 xref: SCTID:2231001 {source="MONDO:equivalentTo"} xref: UMLS:C1335437 {source="MONDO:equivalentTo", source="DOID:3688", source="NCIT:C27744"} is_a: EFO:0003100 ! peripheral neuropathy property_value: definition:citation SCTID:2231001 xsd:string property_value: exactMatch DOID:3688 property_value: exactMatch http://identifiers.org/snomedct/2231001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335437 property_value: exactMatch NCIT:C27744 property_value: excluded_subClassOf MONDO:0005559 {source="DOID:3688"} property_value: excluded_subClassOf MONDO:0024236 {source="NCIT:C27744"} property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009560 name: otitis externa def: "Inflammation of the anatomical structures of the outer ear and ear canal secondary to an infectious process. Bacterial etiology is most common, but fungal infection is also possible. Symptoms include erythema, edema, and pain." [NCIT:C3299] synonym: "external Ear infection" EXACT [NCIT:C3299] synonym: "infectious otitis externa" EXACT [NCIT:C3299] synonym: "otitis externa" EXACT [] {comment="preferred label from MONDO"} synonym: "otitis externa" EXACT [NCIT:C3299] synonym: "outer Ear infection" EXACT [NCIT:C3299] synonym: "swimmer's Ear" EXACT [NCIT:C3299] synonym: "swimmer's ear" EXACT [DOID:9463] xref: DOID:9463 {source="MONDO:equivalentTo"} xref: ICD10:H60 xref: ICD10CM:H60 {source="MONDO:equivalentTo"} xref: ICD9:380.1 {source="DOID:9463"} xref: ICD9:380.10 {source="DOID:9463"} xref: MedDRA:10033072 xref: MESH:D010032 {source="MONDO:equivalentTo", source="DOID:9463"} xref: MeSH:D010032 xref: MONDO:0004795 xref: NCIT:C3299 {source="MONDO:equivalentTo", source="DOID:9463"} xref: NCIt:C3299 xref: NCIT:C79601 {source="MONDO:equivalentTo"} xref: SCTID:3135009 {source="MONDO:equivalentTo", source="DOID:9463"} is_a: EFO:0009668 {source="DOID:9463", source="ICD10CM:H60", source="MONDO:Redundant", source="NCIT:C3299/inferred"} ! external ear disease is_a: MONDO:0021666 {source="MESH:D010032", source="MONDO:Entailed", source="NCIT:C3299"} ! ear infection is_a: MONDO:0021669 ! post-infectious disorder property_value: definition:citation COHD:380731 xsd:string property_value: definition:citation SCTID:3135009 xsd:string property_value: exactMatch DOID:9463 property_value: exactMatch http://identifiers.org/mesh/D010032 property_value: exactMatch http://identifiers.org/snomedct/3135009 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H60 property_value: exactMatch NCIT:C3299 property_value: exactMatch NCIT:C79601 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009561 name: parasitic intestinal disease def: "Infections of the INTESTINES with PARASITES, commonly involving PARASITIC WORMS. Infections with roundworms (NEMATODE INFECTIONS) and tapeworms (CESTODE INFECTIONS) are also known as HELMINTHIASIS." [MESH:D007411] synonym: "disease, parasitic intestinal" RELATED [MESH:D007411] synonym: "diseases, parasitic intestinal" RELATED [MESH:D007411] synonym: "intestinal disease, parasitic" RELATED [MESH:D007411] synonym: "intestine parasitic infection" EXACT [MONDO:patterns/location] synonym: "parasitic intestinal disease" EXACT [MESH:D007411] synonym: "parasitic intestinal diseases" RELATED [MESH:D007411] synonym: "parasitic intestinal disorder" EXACT [] {comment="preferred label from MONDO"} xref: ICD10:B82 xref: MESH:D007411 {source="MONDO:equivalentTo"} xref: MeSH:D007411 xref: MONDO:0024270 xref: UMLS:C0021832 {source="MONDO:equivalentTo"} is_a: EFO:0001067 {source="MESH:D007411", source="MONDO:Redundant", source="MONDO:cjm"} ! parasitic infection is_a: EFO:0009431 {source="MESH:D007411", source="MONDO:Entailed", source="MONDO:Redundant"} ! intestinal disease is_a: MONDO:0043424 ! digestive system infectious disorder property_value: exactMatch http://identifiers.org/mesh/D007411 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0021832 [Term] id: EFO:0009562 name: polyneuropathy def: "A disease or disorder affecting more than one nerve." [NCIT:C26951] synonym: "polyneuropathy" EXACT [] {comment="preferred label from MONDO"} synonym: "polyneuropathy" EXACT [NCIT:C26951] xref: DOID:1389 {source="MONDO:equivalentTo"} xref: ICD10:A69.22 xref: ICD10:G62 xref: ICD10:G62.9 xref: ICD10:G63 xref: ICD9:356.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:357.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10036105 xref: MedDRA:10073023 xref: MESH:D011115 {source="MONDO:equivalentTo", source="DOID:1389"} xref: MeSH:D011115 xref: MONDO:0001824 xref: NCIT:C26951 {source="MONDO:equivalentTo", source="DOID:1389", source="MONDO:exact-label-match"} xref: NCIt:C26951 xref: SCTID:42345000 {source="MONDO:equivalentTo", source="DOID:1389"} xref: UMLS:C0152025 {source="MONDO:equivalentTo", source="NCIT:C26951", source="DOID:1389"} is_a: EFO:0003100 {source="NCIT:C26951"} ! peripheral neuropathy property_value: definition:citation COHD:4174262 xsd:string property_value: definition:citation SCTID:42345000 xsd:string property_value: exactMatch DOID:1389 property_value: exactMatch http://identifiers.org/mesh/D011115 property_value: exactMatch http://identifiers.org/snomedct/42345000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152025 property_value: exactMatch NCIT:C26951 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009563 name: protein energy malnutrition def: "A nutritional deficit that is caused by inadequate protein or calorie intake." [NCIT:P378] synonym: "Protein energy malnutrition" EXACT [NCIT:C34952] synonym: "protein-energy malnutrition" EXACT [] {comment="preferred label from MONDO"} xref: DOID:11801 {source="MONDO:equivalentTo"} xref: ICD10:E46 xref: ICD9:263.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:263.9 {source="DOID:11801", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:269.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10037007 xref: MESH:D011502 {source="DOID:11801", source="MONDO:equivalentTo"} xref: MeSH:D011502 xref: MONDO:0001371 xref: NCIT:C34952 {source="DOID:11801", source="MONDO:equivalentTo"} xref: NCIt:C34952 xref: SCTID:238107002 {source="DOID:11801", source="MONDO:equivalentTo"} is_a: EFO:1001067 {source="DOID:11801", source="MESH:D011502/inferred", source="NCIT:C34952"} ! nutritional deficiency disease property_value: definition:citation SCTID:238107002 xsd:string property_value: exactMatch DOID:11801 property_value: exactMatch http://identifiers.org/mesh/D011502 property_value: exactMatch http://identifiers.org/snomedct/238107002 property_value: exactMatch NCIT:C34952 [Term] id: EFO:0009564 name: pulmonary valve disease def: "A disease involving the pulmonary valve." [https://orcid.org/0000-0002-6601-2165] synonym: "disease of pulmonary valve" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of pulmonary valve" EXACT [] synonym: "disorder of pulmonary valve" EXACT [MONDO:patterns/location_top] synonym: "pulmonary valve disease" EXACT [MONDO:patterns/location] synonym: "pulmonary valve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "pulmonary valve disorder" EXACT [DOID:5749, ICD9CM:424.3] synonym: "pulmonary valve disorder" EXACT [] {comment="preferred label from MONDO"} xref: DOID:5749 {source="MONDO:equivalentTo"} xref: ICD10:I37 xref: ICD9:424.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:5749"} xref: MedDRA:10061541 xref: MONDO:0003628 xref: NCIT:C78579 {source="MONDO:equivalentTo", source="DOID:5749"} xref: NCIt:C78579 xref: SCTID:76267008 {source="MONDO:equivalentTo", source="DOID:5749"} xref: UMLS:C0034087 {source="MONDO:equivalentTo", source="DOID:5749", source="NCIT:C78579"} is_a: EFO:0009551 {source="DOID:5749", source="MONDO:Redundant", source="NCIT:C78579"} ! heart valve disease property_value: definition:citation COHD:319845 xsd:string property_value: definition:citation SCTID:76267008 xsd:string property_value: exactMatch DOID:5749 property_value: exactMatch http://identifiers.org/snomedct/76267008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034087 property_value: exactMatch NCIT:C78579 [Term] id: EFO:0009565 name: radiation-induced disorder def: "A non-neoplastic or neoplastic disorder which results from exposure to radiation. Examples of non-neoplastic disorders include dermatitis, enteritis, stomatitis, pneumonitis, and cerebritis. Examples of neoplastic disorders include myelodysplastic syndromes, leukemias, and sarcomas." [NCIT:C26684] subset: disease_grouping subset: ordo_group_of_disorders synonym: "abnormalities, radiation induced" RELATED [MESH:D000016] synonym: "Abnormality, radiation-induced" RELATED [MESH:D000016] synonym: "radiation induced abnormalities" RELATED [MESH:D000016] synonym: "radiation-induced abnormalities" EXACT [NCIT:C26684] synonym: "radiation-induced Abnormality" EXACT [MESH:D000016, NCIT:C26684] synonym: "radiation-induced abnormality" EXACT [] synonym: "radiation-induced disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "radiation-induced disorder" EXACT [NCIT:C26684] xref: ICD10:L57 xref: MESH:D000016 {source="MONDO:equivalentTo"} xref: MeSH:D000016 xref: MONDO:0043459 xref: NCIT:C26684 {source="MONDO:equivalentTo"} xref: NCIt:C26684 xref: Orphanet:521132 {source="MONDO:equivalentTo"} xref: SCTID:85983004 {source="MONDO:equivalentTo"} xref: UMLS:C1527225 {source="MONDO:equivalentTo"} is_a: EFO:0000408 ! disease property_value: definition:citation SCTID:85983004 xsd:string property_value: exactMatch http://identifiers.org/mesh/D000016 property_value: exactMatch http://identifiers.org/snomedct/85983004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1527225 property_value: exactMatch NCIT:C26684 property_value: exactMatch Orphanet:521132 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009566 name: renal tubule disease def: "A disease that involves the renal tubule." [MONDO:patterns/location] synonym: "disease of renal tubule" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of renal tubule" EXACT [] synonym: "disorder of renal tubule" EXACT [MONDO:patterns/location_top] synonym: "renal tubular disease" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "renal tubular disorder" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "renal tubule disease" EXACT [MONDO:patterns/location] synonym: "renal tubule disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "renal tubule disorder" EXACT [] {comment="preferred label from MONDO"} xref: ICD10:N16 xref: ICD10:N25 xref: ICD9:588.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MONDO:0021568 xref: SCTID:95568003 {source="MONDO:equivalentTo"} xref: UMLS:C0151747 {source="MONDO:equivalentTo"} is_a: EFO:0003086 ! kidney disease property_value: definition:citation SCTID:95568003 xsd:string property_value: exactMatch http://identifiers.org/snomedct/95568003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151747 [Term] id: EFO:0009567 name: Spirochaetales Infections def: "Infections with bacteria of the order SPIROCHAETALES." [MESH:D013145] subset: gard_rare synonym: "INFECT SPIROCHAETALES" EXACT [] synonym: "INFECT SPIROCHAETALES" RELATED [MESH:D013145] synonym: "INFECT SPIROCHETE" EXACT [] synonym: "INFECT SPIROCHETE" RELATED [MESH:D013145] synonym: "Infection, Spirochaetales" EXACT [] synonym: "Infection, Spirochaetales" RELATED [MESH:D013145] synonym: "Infection, Spirochete" EXACT [] synonym: "Infection, Spirochete" RELATED [MESH:D013145] synonym: "Infections, Spirochaetales" EXACT [] synonym: "Infections, Spirochaetales" RELATED [MESH:D013145] synonym: "Infections, Spirochete" EXACT [] synonym: "Infections, Spirochete" RELATED [MESH:D013145] synonym: "SPIROCHAETALES INFECT" EXACT [] synonym: "SPIROCHAETALES INFECT" RELATED [MESH:D013145] synonym: "Spirochaetales Infection" EXACT [] synonym: "Spirochaetales Infection" RELATED [MESH:D013145] synonym: "Spirochaetales Infections" EXACT [] synonym: "Spirochaetales Infections" RELATED [GARD:0007682, MESH:D013145] synonym: "spirochaetales infections" EXACT [] {comment="preferred label from MONDO"} synonym: "Spirochetal infection" EXACT [] synonym: "Spirochetal infection" RELATED [UMLS:C0037974] synonym: "SPIROCHETE INFECT" EXACT [] synonym: "SPIROCHETE INFECT" RELATED [MESH:D013145] synonym: "Spirochete Infection" EXACT [] synonym: "Spirochete Infection" RELATED [MESH:D013145] synonym: "Spirochete Infections" EXACT [] synonym: "Spirochete Infections" RELATED [MESH:D013145] synonym: "Spirochetosis" EXACT [] synonym: "Spirochetosis" RELATED [UMLS:C0037974] xref: ICD10:A69 xref: MESH:D013145 {source="MONDO:equivalentTo", source="UMLS:C0037974"} xref: MeSH:D013145 xref: MONDO:0021839 xref: UMLS:C0037974 {source="MONDO:equivalentTo", source="GARD:0007682"} is_a: EFO:0000771 {source="MESH:D013145", source="UMLS:C0037974"} ! bacterial disease relationship: has_characteristic MONDO:0021136 {source="GARD:0007682"} ! rare property_value: definition:citation GARD:0007682 xsd:string property_value: definition:citation OMIT:0014025 xsd:string property_value: exactMatch http://identifiers.org/mesh/D013145 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037974 [Term] id: EFO:0009568 name: tricuspid valve disease def: "A disease involving the tricuspid valve." [https://orcid.org/0000-0002-6601-2165] synonym: "disease of tricuspid valve" EXACT [DOID:0050826, ICD9CM:397.0, MONDO:patterns/location_top] synonym: "disease or disorder of tricuspid valve" EXACT [] synonym: "disorder of tricuspid valve" EXACT [MONDO:patterns/location_top] synonym: "RH. tricuspid valve disease" NARROW [DOID:0050826] synonym: "rheumatic disease of tricuspid valve" NARROW [DOID:0050826] synonym: "rheumatic tricuspid valve disease" NARROW [DOID:0050826] synonym: "tricuspid disease" EXACT [DOID:0050826] synonym: "tricuspid valve disease" EXACT [MONDO:patterns/location] synonym: "tricuspid valve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "tricuspid valve disorder" EXACT [NCIT:C78649] synonym: "tricuspid valve disorder" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0050826 {source="MONDO:equivalentTo"} xref: ICD10:I07 xref: ICD10:I07.9 xref: ICD10:I36 xref: ICD9:397.0 {source="DOID:0050826"} xref: MedDRA:10061389 xref: MONDO:0000471 xref: NCIT:C78649 {source="MONDO:equivalentTo"} xref: NCIt:C78649 xref: SCTID:20721001 {source="MONDO:equivalentTo"} xref: UMLS:C0264776 {source="MONDO:equivalentTo", source="DOID:0050826"} xref: UMLS:C0264882 {source="NCIT:C78649", source="MONDO:equivalentTo"} is_a: EFO:0009551 {source="DOID:0050826", source="MONDO:Redundant", source="NCIT:C78649"} ! heart valve disease property_value: exactMatch DOID:0050826 property_value: exactMatch http://identifiers.org/snomedct/20721001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264776 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264882 property_value: exactMatch NCIT:C78649 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009569 name: trigeminal nerve disease def: "A disease involving the trigeminal nerve." [https://orcid.org/0000-0002-6601-2165] synonym: "disease of trigeminal nerve" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of trigeminal nerve" EXACT [] synonym: "disorder of the fifth cranial nerve" RELATED [] synonym: "disorder of trigeminal nerve" EXACT [MONDO:patterns/location_top] synonym: "disorders of the fifth nerve" RELATED [] synonym: "disorders of the vth cranial nerve" RELATED [] synonym: "trigeminal nerve disease" EXACT [MONDO:patterns/location] synonym: "trigeminal nerve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "trigeminal nerve disorder" EXACT [] {comment="preferred label from MONDO"} xref: DOID:561 {source="MONDO:equivalentTo"} xref: ICD10:G50 xref: ICD9:350.8 {source="DOID:561"} xref: MESH:D020433 {source="MONDO:equivalentTo"} xref: MeSH:D020433 xref: MONDO:0003543 xref: NCIT:C26952 {source="MONDO:equivalentTo"} xref: NCIt:C26952 xref: SCTID:64309007 {source="MONDO:equivalentTo"} is_a: EFO:0009387 {source="DOID:561/inferred", source="MONDO:Redundant"} ! peripheral nervous system disease is_a: MONDO:0003569 {source="DOID:561", source="MESH:D020433/inferred", source="MONDO:Redundant", source="NCIT:C26952"} ! cranial nerve neuropathy property_value: definition:citation SCTID:64309007 xsd:string property_value: exactMatch DOID:561 property_value: exactMatch http://identifiers.org/mesh/D020433 property_value: exactMatch http://identifiers.org/snomedct/64309007 property_value: exactMatch NCIT:C26952 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009570 name: tympanic membrane disease def: "A disease involving the tympanic membrane." [https://orcid.org/0000-0002-6601-2165] synonym: "disease of tympanic membrane" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of tympanic membrane" EXACT [] synonym: "disorder of tympanic membrane" EXACT [MONDO:patterns/location_top] synonym: "tympanic membrane disease" EXACT [MONDO:patterns/location] synonym: "tympanic membrane disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "tympanic membrane disorder" EXACT [] {comment="preferred label from MONDO"} xref: DOID:5782 {source="MONDO:equivalentTo"} xref: ICD10:H73 xref: ICD10:H73.9 xref: ICD9:384.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:5782"} xref: MONDO:0003648 xref: SCTID:21426000 {source="MONDO:equivalentTo", source="DOID:5782"} xref: UMLS:C0041825 {source="MONDO:equivalentTo", source="DOID:5782"} is_a: MONDO:0003276 {source="DOID:5782", source="MONDO:Redundant"} ! middle ear disorder property_value: definition:citation SCTID:21426000 xsd:string property_value: exactMatch DOID:5782 property_value: exactMatch http://identifiers.org/snomedct/21426000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041825 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009571 name: urinary tract obstruction def: "Blockage of the normal flow of contents of the urinary tract." [NCIT:P378] synonym: "obstructive uropathy" EXACT [DOID:5200, NCIT:C3675] synonym: "urinary obstruction" EXACT [DOID:5200, ICD9CM:599.6] synonym: "urinary tract obstruction" EXACT [] {comment="preferred label from MONDO"} xref: DOID:5200 {source="MONDO:equivalentTo"} xref: ICD10:N13 xref: ICD10:N13.9 xref: ICD9:599.6 {source="DOID:5200", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:599.60 {source="DOID:5200", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10061574 xref: MONDO:0003330 xref: NCIT:C3675 {source="DOID:5200", source="MONDO:equivalentTo"} xref: NCIt:C3675 xref: SCTID:7163005 {source="DOID:5200", source="MONDO:equivalentTo"} xref: UMLS:C0178879 {source="DOID:5200", source="MONDO:equivalentTo", source="NCIT:C3675"} is_a: EFO:0009690 {source="DOID:5200", source="NCIT:C3675"} ! urinary system disease property_value: definition:citation COHD:194406 xsd:string property_value: definition:citation SCTID:7163005 xsd:string property_value: exactMatch DOID:5200 property_value: exactMatch http://identifiers.org/snomedct/7163005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0178879 property_value: exactMatch NCIT:C3675 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009572 name: uterine inflammatory disease def: "A uterine disease that is characterized by inflammation." [] synonym: "inflammatory disease of the uterus" EXACT [DOID:13736] synonym: "uterine inflammatory disease" EXACT [] {comment="preferred label from MONDO"} xref: DOID:13736 {source="MONDO:equivalentTo"} xref: ICD10:N71 xref: ICD10:N71.9 xref: ICD9:615.9 {source="DOID:13736", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MONDO:0001786 xref: SCTID:28783002 {source="DOID:13736", source="MONDO:equivalentTo"} xref: UMLS:C0269047 {source="DOID:13736", source="MONDO:equivalentTo"} is_a: MONDO:0002654 {source="DOID:13736"} ! uterine disorder property_value: definition:citation COHD:196162 xsd:string property_value: definition:citation SCTID:28783002 xsd:string property_value: exactMatch DOID:13736 property_value: exactMatch http://identifiers.org/snomedct/28783002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0269047 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009573 name: high-risk pregnancy def: "A fetal/maternal condition that is risky and portends complications for the mother and/or fetus, when compared to a normal pregnancy. [ NCI ]" [] synonym: "high risk pregnancy" EXACT [] xref: ICD10:Z35 xref: NCIt:C92807 is_a: EFO:0009549 ! female reproductive system disease property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009574 name: intoxication def: "Disturbances in psychophysiological functions and responses as a result of administration or ingestion of a psychoactive substance. [ NCI ]" [] xref: ICD10:T52 xref: ICD10:T55 xref: ICD10:T59 xref: ICD10:T60 xref: MedDRA:10022727 xref: NCIt:C28283 is_a: EFO:0008546 ! poisoning [Term] id: EFO:0009575 name: mosquito-borne hemorragic fever def: "A group of viral illnesses that are vectored by mosquitoes, and that are characterized by increased susceptibility to bleeding diatheses. [ NCI ]" [] xref: ICD10:A92 xref: NCIt:C35174 is_a: EFO:0000763 ! viral disease [Term] id: EFO:0009576 name: multiple gestation def: "A pregnancy involving twins or higher-order multiple fetuses (e.g., triplets, quadruplets). [ NCI ]" [] xref: ICD10:O30 xref: MedDRA:10028214 xref: MedDRA:10028219 xref: NCIt:C87097 is_a: EFO:0002950 ! pregnancy property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009577 name: orthopedic nursing def: "Nursing care with a special emphasis on the care of individuals with orthopaedic-related injuries, diseases, and diagnoses. [ NCI ]" [] synonym: "orthopaedic care" EXACT [] synonym: "orthopaedic nursing" EXACT [] xref: ICD10:Z47 xref: NCIt:C20875 is_a: EFO:0002571 ! medical procedure [Term] id: EFO:0009578 name: placental retention def: "After delivery of neonate, placental retention that requires clinical intervention such as manual extraction, curettage or uterotonic medications. [ NCI ]" [] xref: ICD10:O73 xref: NCIt:C114130 is_a: EFO:0007441 ! placenta disease property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009579 name: postpartum hemorrhage def: "Hemorrhage defined as a blood loss in excess of 500 mL after vaginal delivery or more than 1000 mL after a cesarean delivery. [ NCI ]" [] synonym: "postpartum haemorrhage" EXACT [] xref: ICD10:O72 xref: MedDRA:10036418 xref: NCIt:C92853 is_a: EFO:0009683 ! puerperal disorder is_a: MP:0001914 ! hemorrhage property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009580 name: prophylactic surgery def: "Any surgical procedure undertaken prior to the occurrence of a disease/disorder, the goal of which is to prevent the disease/disorder from developing. [ NCI ]" [] xref: ICD10:Z40 xref: NCIt:C94458 is_a: EFO:0002571 ! medical procedure [Term] id: EFO:0009581 name: rehabilitation def: "Restoration of the ability to function in a normal or near normal manner following disease, illness, or injury. [ NCI ]" [] xref: ICD10:Z50 xref: NCIt:C15315 is_a: EFO:0002571 ! medical procedure [Term] id: EFO:0009582 name: sprain def: "A stretching or tearing of a ligament. [ NCI ]" [] xref: ICD10:S43 xref: ICD10:S63 xref: ICD10:T03 xref: MedDRA:10041747 xref: NCIt:C35035 is_a: EFO:0000546 ! injury property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009583 name: place of residence measurement def: "Quantification of some aspect of an individual's place of residence, such as population density or socioeconomic status." [] xref: PMID:29936532 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009584 name: AQP4-IgG-positive neuromyelitis optica def: "A subtype of neuromyelitis optica caused by an autoimmune aquaporin-4 channelopathy, due to presence of circulating autoantibodies against aquaporin 4." [] xref: https://en.wikipedia.org/wiki/Neuromyelitis_optica is_a: EFO:0004256 ! neuromyelitis optica property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0009585 name: AQP4-IgG-negative neuromyelitis optica def: "A subtype of neuromyelitis optica caused by an antiMOG associated encephalomyelitis." [] xref: https://en.wikipedia.org/wiki/Neuromyelitis_optica is_a: EFO:0004256 ! neuromyelitis optica property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0009586 name: skin hydration measurement def: "Quantification of the degree of hydration of the superficial layers of the skin." [] synonym: "skin capacitance" EXACT [] xref: PMID:30065583 is_a: EFO:0007891 ! skin barrier function measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009587 name: anhedonia measurement def: "Quantification of levels of anhedonia, defined as the inability to experience pleasure in activities usually found enjoyable." [] xref: PMID:30104601 is_a: EFO:0007803 ! emotional symptom measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009588 name: feeling \"fed-up\" measurement def: "Quantification of whether an individual feels or felt \"fed-up\"." [] xref: PMID:29500382 is_a: EFO:0007803 ! emotional symptom measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009589 name: worry measurement def: "Quantification of whether an individual feels or felt worried." [] xref: PMID:29500382 is_a: EFO:0007803 ! emotional symptom measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009590 name: visual memory measurement def: "Quantification of an individual's ability to store and recall visual information." [] xref: PMID:29907492 is_a: EFO:0008354 ! cognitive function measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009591 name: verbal memory measurement def: "Quantification of an individual's ability to store and recall linguistic information." [] xref: PMID:29907492 is_a: EFO:0008354 ! cognitive function measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009592 name: social interaction measurement def: "Quantification, typically by a questionnaire, of some aspect of social interaction, such as engagement in social activities, or degree of contact with friends and family." [] xref: PMID:29970889 is_a: EFO:0007803 ! emotional symptom measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009593 name: mood change measurement def: "Quantification of whether an individual experiences changes in mood." [] xref: PMID:29500382 is_a: EFO:0007803 ! emotional symptom measurement property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009594 name: irritability measurement def: "Quantification of whether an individual feels or felt irritable." [] xref: PMID:29500382 is_a: EFO:0007803 ! emotional symptom measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009595 name: guilt measurement def: "Quantification of whether an individual feels or felt guilty." [] xref: PMID:29500382 is_a: EFO:0007803 ! emotional symptom measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009596 name: feeling tense measurement def: "Quantification of whether an individual feels or felt tense." [] xref: PMID:29500382 is_a: EFO:0007803 ! emotional symptom measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009597 name: feeling nervous measurement def: "Quantification of whether an individual feels or felt nervous or \"suffered from nerves\"." [] xref: PMID:29500382 is_a: EFO:0007803 ! emotional symptom measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009598 name: feeling miserable measurement def: "Quantification of whether an individual feels or felt miserable." [] xref: PMID:29500382 is_a: EFO:0007803 ! emotional symptom measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009599 name: feeling emotionally hurt measurement def: "Quantification of whether an individual feels or felt emotionally hurt." [] xref: PMID:29500382 is_a: EFO:0007803 ! emotional symptom measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009600 name: thyroid radioablation therapy def: "Therapy using radioactive iodine for ablation of remnant thyroid tissue following a complete thyroidectomy to treat thyroid cancer." [] xref: Wikipedia:Iodine-131#Treatment_of_thyroid_cancer is_a: EFO:0000727 ! treatment [Term] id: EFO:0009601 name: testicular disease def: "A non-neoplastic or neoplastic disorder affecting the testis. Representative examples include torsion, infarction, germ cell tumor, sex cord-stromal tumor, lymphoma, and leukemia." [NCIT:C26890] def: "A non-neoplastic or neoplastic disorder affecting the testis. Representative examples include torsion, infarction, germ cell tumor, sex cord-stromal tumor, lymphoma, and leukemia. [ NCIt:C26890 ]" [] synonym: "disease of testis" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of testis" EXACT [] synonym: "disorder of testis" EXACT [DOID:2519, MONDO:patterns/location_top] synonym: "testicular disease" EXACT [NCIT:C26890] synonym: "testicular disorder" EXACT [NCIT:C26890] synonym: "testicular disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "testis disease" EXACT [MONDO:patterns/location] synonym: "testis disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "testis disorder" EXACT [DOID:2519] xref: DOID:2519 {source="MONDO:equivalentTo"} xref: ICD9:608.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D013733 {source="MONDO:equivalentTo", source="DOID:2519"} xref: MONDO:0002329 xref: NCIT:C26890 {source="NCIT:C26890", source="MONDO:equivalentTo", source="DOID:2519"} xref: NCIt:C26890 xref: SCTID:64910008 {source="MONDO:equivalentTo", source="DOID:2519"} xref: UMLS:C0039584 {source="NCIT:C26890", source="MONDO:equivalentTo", source="DOID:2519"} is_a: EFO:0009555 {source="DOID:2519", source="MESH:D013733", source="MONDO:Redundant", source="NCIT:C26890"} ! male reproductive system disease is_a: MONDO:0002259 {source="DOID:2519", source="MESH:D013733", source="MONDO:Redundant"} ! gonadal disorder property_value: exactMatch DOID:2519 property_value: exactMatch http://identifiers.org/mesh/D013733 property_value: exactMatch http://identifiers.org/snomedct/64910008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039584 property_value: exactMatch NCIT:C26890 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009602 name: prostate disease def: "A disease involving the prostate gland." [https://orcid.org/0000-0002-6601-2165] def: "A disease involving the prostate gland. [ MONDO:DesignPattern ]" [] synonym: "disease of prostate gland" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of prostate gland" EXACT [] synonym: "disorder of prostate gland" EXACT [MONDO:patterns/location_top] synonym: "prostate disease" EXACT [NCIT:C26865] synonym: "prostate disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "prostate disorder" EXACT [NCIT:C26865] synonym: "prostate gland disease" EXACT [MONDO:patterns/location] synonym: "prostate gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:47 {source="MONDO:equivalentTo"} xref: ICD10:N42 xref: ICD9:602.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:602.9 {source="MONDO:equivalentTo", source="DOID:47", source="MONDO:i2s"} xref: MESH:D011469 {source="MONDO:equivalentTo", source="DOID:47"} xref: MONDO:0003105 xref: NCIT:C26865 {source="MONDO:equivalentTo", source="DOID:47"} xref: SCTID:30281009 {source="MONDO:equivalentTo", source="DOID:47"} xref: UMLS:C0033575 {source="MONDO:equivalentTo", source="DOID:47", source="NCIT:C26865"} is_a: EFO:0009555 {source="DOID:47", source="MESH:D011469", source="MONDO:Redundant", source="NCIT:C26865"} ! male reproductive system disease property_value: exactMatch DOID:47 property_value: exactMatch http://identifiers.org/mesh/D011469 property_value: exactMatch http://identifiers.org/snomedct/30281009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033575 property_value: exactMatch NCIT:C26865 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009603 name: stroke outcome severity measurement def: "Quantification of the the degree of disability or dependence in the daily activities of people who have suffered a stroke, for example using the Modified Rankin Scale." [] xref: PMID:30582445 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 HP:0002140 ! is_about Ischemic stroke property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009604 name: labyrinthitis def: "Inflammation of the inner ear. The cause is often not clear. It may be due to a virus, but it can also arise from bacterial infection, head injury, extreme stress, an allergy, or as a reaction to medication." [NCIT:C128369, Wikipedia:Labyrinthitis] def: "Inflammation of the inner ear. The cause is often not clear. It may be due to a virus, but it can also arise from bacterial infection, head injury, extreme stress, an allergy, or as a reaction to medication. [ https://en.wikipedia.org/wiki/Labyrinthitis NCIt:C128369 ]" [] comment: Note that DO has distinct classes for both labyrinthitis and otitis interna. These are generally regarded as synonyms. We intentionally make these two classes equivalent. However, the DO class may potentially represent the infectious form, although the sub/superclass relationships are inverted if this is the case. synonym: "inflammation of internal ear" EXACT [] synonym: "inner ear infection" RELATED [DOID:3930] synonym: "internal ear inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "labyrinthitis" EXACT [] {comment="preferred label from MONDO"} synonym: "otitis interna" EXACT [Wikipedia:Labyrinthitis] xref: DOID:1468 {source="MONDO:equivalentTo"} xref: DOID:3930 {source="MONDO:equivalentTo"} xref: ICD10CM:H83.0 {source="MONDO:equivalentTo", source="DOID:1468"} xref: ICD9:386.3 {source="DOID:1468"} xref: ICD9:386.30 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1468"} xref: MedDRA:10023567 xref: MedDRA:10023570 xref: MedDRA:10059400 xref: MESH:D007762 {source="MONDO:equivalentTo", source="DOID:1468"} xref: MONDO:0002008 xref: NCIT:C128369 {source="MONDO:equivalentTo"} xref: SCTID:23919004 {source="MONDO:equivalentTo", source="DOID:1468"} xref: UMLS:C0022893 {source="MONDO:equivalentTo", source="NCIT:C128369", source="DOID:1468"} is_a: EFO:0009672 {source="DOID:1468/inferred", source="DOID:3930", source="ICD10CM:H83.0/inferred", source="MESH:D007762", source="MONDO:Redundant", source="NCIT:C128369"} ! inner ear disease is_a: EFO:0009903 {source="MONDO:Redundant"} ! inflammatory disease property_value: exactMatch DOID:1468 property_value: exactMatch DOID:3930 property_value: exactMatch http://identifiers.org/mesh/D007762 property_value: exactMatch http://identifiers.org/snomedct/23919004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022893 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H83.0 property_value: exactMatch NCIT:C128369 property_value: excluded_subClassOf MONDO:0002812 {source="DOID:1468"} property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009605 name: pancreas disease def: "A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms." [NCIT:C26842] def: "A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms. [ NCIt:C26842 ]" [] subset: rare_grouping synonym: "disease of pancreas" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of pancreas" EXACT [] synonym: "disease, pancreatic" RELATED [MESH:D010182] synonym: "diseases, pancreatic" RELATED [MESH:D010182] synonym: "disorder of pancreas" EXACT [MONDO:patterns/location_top] synonym: "pancreas disease" EXACT [MONDO:patterns/location] synonym: "pancreas disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "pancreas disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "pancreas problem" EXACT [] synonym: "pancreatic disease" RELATED [MESH:D010182] synonym: "pancreatic disorder" EXACT [NCIT:C26842] xref: DOID:26 {source="MONDO:equivalentTo"} xref: ICD10:E16 xref: ICD10:K86 xref: ICD9:577.8 {source="DOID:26"} xref: ICD9:577.9 xref: MedDRA:10033616 xref: MESH:D010182 {source="MONDO:equivalentTo"} xref: MONDO:0002356 xref: NCIT:C26842 {source="MONDO:equivalentTo"} xref: SCTID:3855007 {source="MONDO:equivalentTo"} is_a: EFO:0000405 {source="NCIT:C26842"} ! digestive system disease is_a: EFO:0001379 {source="DOID:26"} ! endocrine system disease property_value: exactMatch DOID:26 property_value: exactMatch http://identifiers.org/mesh/D010182 property_value: exactMatch http://identifiers.org/snomedct/3855007 property_value: exactMatch NCIT:C26842 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009606 name: macular degeneration def: "Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration." [NCIT:P378] def: "Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration. [ NCIt:P378 ]" [] synonym: "macula lutea retinal degeneration" EXACT [MONDO:patterns/location] synonym: "macula retinal degeneration" EXACT [MONDO:patterns/location] synonym: "macular degeneration" EXACT [] {comment="preferred label from MONDO"} synonym: "macular degeneration of retina" EXACT [DOID:4448] synonym: "retinal degeneration of macula lutea" EXACT [MONDO:design_pattern] xref: DOID:4448 {source="MONDO:equivalentTo"} xref: MedDRA:10025409 xref: MESH:D008268 {source="DOID:4448", source="MONDO:equivalentTo"} xref: MONDO:0003004 xref: NCIT:C123330 {source="DOID:4448", source="MONDO:equivalentTo"} xref: SCTID:422338006 {source="DOID:4448", source="MONDO:equivalentTo"} xref: UMLS:C0024437 {source="DOID:4448", source="MONDO:equivalentTo", source="NCIT:C123330"} is_a: MONDO:0004580 {source="DOID:4448", source="MESH:D008268", source="MONDO:Redundant", source="NCIT:C123330"} ! retinal degeneration relationship: disease_arises_from_feature MONDO:0004580 ! retinal degeneration property_value: exactMatch DOID:4448 property_value: exactMatch http://identifiers.org/mesh/D008268 property_value: exactMatch http://identifiers.org/snomedct/422338006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024437 property_value: exactMatch NCIT:C123330 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009607 name: pituitary gland disease def: "A disease involving the pituitary gland." [https://orcid.org/0000-0002-6601-2165] def: "A disease involving the pituitary gland. [ MONDO:DesignPattern ]" [] synonym: "disease of pituitary gland" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of pituitary gland" EXACT [] synonym: "disorder of pituitary gland" EXACT [MONDO:patterns/location_top] synonym: "pituitary disease" EXACT [DOID:53] synonym: "pituitary gland disease" EXACT [MONDO:patterns/location, NCIT:C26854] synonym: "pituitary gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "pituitary gland disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "pituitary gland disorder" EXACT [NCIT:C26854] xref: DOID:53 {source="MONDO:equivalentTo"} xref: ICD10:E23 xref: ICD9:253.1 {source="DOID:53"} xref: ICD9:253.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:253.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D010900 {source="MONDO:equivalentTo"} xref: MONDO:0003381 xref: NCIT:C26854 {source="MONDO:equivalentTo"} xref: SCTID:399244003 {source="MONDO:equivalentTo"} is_a: EFO:0001379 {source="DOID:53", source="MESH:D010900", source="MONDO:Redundant"} ! endocrine system disease is_a: EFO:0005774 {source="MESH:D010900/inferred", source="MONDO:Redundant"} ! brain disease property_value: exactMatch DOID:53 property_value: exactMatch http://identifiers.org/mesh/D010900 property_value: exactMatch http://identifiers.org/snomedct/399244003 property_value: exactMatch NCIT:C26854 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009608 name: stomach disease def: "A disease involving the stomach." [https://orcid.org/0000-0002-6601-2165] def: "A disease involving the stomach. [ MONDO:DesignPattern ]" [] subset: rare_grouping synonym: "disease of stomach" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of stomach" EXACT [] synonym: "disorder of stomach" EXACT [MONDO:patterns/location_top] synonym: "gastric disease" RELATED [DOID:76] synonym: "gastropathy" EXACT [DOID:76] synonym: "stomach disease" EXACT [MONDO:patterns/location] synonym: "stomach disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "stomach disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "stomach disorder" EXACT [DOID:76, NCIT:C26886] xref: DOID:76 {source="MONDO:equivalentTo"} xref: ICD9:537.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:537.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D013272 {source="DOID:76", source="MONDO:equivalentTo"} xref: MONDO:0004298 xref: NCIT:C26886 {source="DOID:76", source="MONDO:equivalentTo"} xref: SCTID:29384001 {source="DOID:76", source="MONDO:equivalentTo"} xref: UMLS:C0038354 {source="DOID:76", source="MONDO:equivalentTo", source="NCIT:C26886"} is_a: EFO:0000405 {source="DOID:76", source="MESH:D013272", source="MONDO:Redundant", source="NCIT:C26886"} ! digestive system disease is_a: EFO:0010282 ! gastrointestinal disease property_value: exactMatch DOID:76 property_value: exactMatch http://identifiers.org/mesh/D013272 property_value: exactMatch http://identifiers.org/snomedct/29384001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038354 property_value: exactMatch NCIT:C26886 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009609 name: myocarditis def: "Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. Myocarditis can be caused by a variety of factors including infections (viral, bacterial, parasitic, and fungal), allergic reactions to certain medications, and exposure to certain chemicals. It can also be associated with other inflammatory conditions such as lupus , Wegener's granulomatosis , giant cell arteritis and Takayasu's arteritis. Most cases occur sporadically in people with no family history of the condition. Treatment aims to address the underlying cause of the condition. Medications and, rarely, a heart transplant may be needed if the heart muscle becomes weak. [ https://rarediseases.info.nih.gov/diseases/7137/myocarditis ]" [] def: "Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. Myocarditis can be caused by a variety of factors including infections (viral, bacterial, parasitic, and fungal), allergic reactions to certain medications, and exposure to certain chemicals. It can also be associated with other inflammatory conditions such as lupus, Wegener's granulomatosis, giant cell arteritis and Takayasu's arteritis. Most cases occur sporadically in people with no family history of the condition. Treatment aims to address the underlying cause of the condition. Medications and rarely, a heart transplant may be needed if the heart muscle becomes weak." [https://rarediseases.info.nih.gov/diseases/7137/myocarditis] subset: gard_rare {source="GARD:0007137"} synonym: "inflammation of myocardium" EXACT [] synonym: "myocardial inflammation" EXACT [DOID:820] synonym: "myocardial inflammation (finding)" EXACT [DOID:820] synonym: "myocarditis" EXACT [] {comment="preferred label from MONDO"} synonym: "myocardium inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:820 {source="MONDO:equivalentTo"} xref: ICD10CM:I40 {source="MONDO:equivalentTo"} xref: ICD9:429.0 {source="DOID:820", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10028606 xref: MedDRA:10028619 xref: MESH:D009205 {source="DOID:820", source="MONDO:equivalentTo"} xref: MONDO:0004496 xref: NCIT:C34831 {source="DOID:820", source="MONDO:equivalentTo"} xref: SCTID:50920009 {source="DOID:820", source="MONDO:equivalentTo"} xref: UMLS:C0027059 {source="DOID:820", source="MONDO:equivalentTo", source="NCIT:C34831"} is_a: MONDO:0000591 {source="Wikipedia:Cardiomyopathy"} ! intrinsic cardiomyopathy is_a: MONDO:0024636 ! inflammation of heart layer is_a: MONDO:0024643 ! myocardial disorder property_value: exactMatch DOID:820 property_value: exactMatch http://identifiers.org/mesh/D009205 property_value: exactMatch http://identifiers.org/snomedct/50920009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027059 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/I40 property_value: exactMatch NCIT:C34831 property_value: excluded_subClassOf MONDO:0002824 {source="DOID:820"} property_value: gwas:trait "true" xsd:boolean property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7137/myocarditis xsd:anyURI {source="GARD:0007137"} [Term] id: EFO:0009610 name: cervical spondylosis def: "Degeneration of vertebrae of the neck." [] synonym: "spondylosis, cervical" EXACT [] {comment="preferred label from MONDO"} synonym: "spondylosis, cervical" EXACT [OMIM:184300] xref: MedDRA:10008315 xref: MONDO:0008481 xref: OMIM:184300 {source="MONDO:equivalentTo"} xref: SCTID:387800004 {source="MONDO:equivalentTo"} xref: UMLS:C1384641 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:184300"} xref: Wikipedia:Spondylosis is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: EFO:0002461 ! skeletal system disease property_value: exactMatch http://identifiers.org/snomedct/387800004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1384641 property_value: exactMatch https://omim.org/entry/184300 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009611 name: orbital fracture def: "A break in the orbital bone. [ NCI ]" [] xref: MedDRA:10063638 xref: NCIt:C118744 is_a: EFO:1001425 ! Skull Fractures [Term] id: EFO:0009612 name: jaw fracture def: "A break in one or both bones that comprise the jaw. [ NCI ]" [] def: "A traumatic or pathologic injury to the jaw in which the continuity of the bone is broken." [] synonym: "jaw fracture" EXACT [] {comment="preferred label from MONDO"} synonym: "lower jaw fracture" NARROW [] synonym: "upper jaw fracture" NARROW [] xref: MedDRA:10023149 xref: MESH:D007572 {source="MONDO:equivalentTo"} xref: MONDO:0100075 xref: NCIt:C26803 is_a: EFO:0003931 {source="https://orcid.org/0000-0002-1382-4768"} ! bone fracture is_a: EFO:1001425 ! Skull Fractures property_value: exactMatch http://identifiers.org/mesh/D007572 property_value: http://purl.org/dc/elements/1.1/date 2019-02-06T06:57:26Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: EFO:0009613 name: fibula fracture def: "A traumatic or pathologic injury to the femur in which the continuity of the fibula is broken. [ NCI ]" [] xref: MedDRA:10016667 xref: NCIt:C26938 is_a: EFO:0009512 ! lower extremity fracture property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009614 name: clavicle fracture def: "A traumatic or pathologic injury to the clavicle in which the continuity of the clavicle is broken. [ NCI ]" [] xref: MedDRA:10009245 xref: NCIt:C26987 is_a: EFO:0003931 ! bone fracture property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009615 name: ankle fracture def: "Traumatic or pathological injury to the ankle joint in which the continuity of an ankle bone is broken. Symptoms include pain, swelling, and difficulty moving the affected leg and foot. [ NCI ]" [] xref: MedDRA:10002544 xref: NCIt:C26989 is_a: EFO:0009512 ! lower extremity fracture property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009616 name: finger fracture def: "A traumatic break in one or more of the bones in one of the digits of the hand. [ NCI ]" [] xref: NCIt:C27072 is_a: EFO:0009514 ! upper extremity fracture property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009617 name: knee fracture def: "A traumatic break in one or more of the bones that compose the knee joint. [ NCI ]" [] xref: MedDRA:10053651 xref: NCIt:C27201 is_a: EFO:0009512 ! lower extremity fracture property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009618 name: foot fracture def: "A traumatic break in one or more of the bones in the foot. [ NCI ]" [] xref: MedDRA:10016970 xref: NCIt:C28236 is_a: EFO:0009512 ! lower extremity fracture property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009619 name: neuroma def: "A tumor that grows from a nerve or is composed of nerve cells and nerve fibers." [NCIT:C3275] comment: Note that this class represents a grouping of benign neoplasms plus non-neoplastic swellings and growth such as traumatic neuromas. In future it may be split synonym: "neuroma" EXACT [] {comment="preferred label from MONDO"} synonym: "neuroma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: DOID:2001 {source="MONDO:equivalentTo"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9570/0 {source="NCIT:C3275"} xref: MESH:D009463 {source="DOID:2001", source="MONDO:equivalentTo"} xref: MONDO:0002173 xref: NCIT:C3275 {source="DOID:2001", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C3275 {source="DOID:2001", source="MONDO:equivalentTo", source="exact-label-match"} xref: SCTID:443892003 {source="DOID:2001", source="MONDO:equivalentTo"} xref: UMLS:C0027858 {source="DOID:2001", source="NCIT:C3275", source="MONDO:equivalentTo"} is_a: EFO:0009387 ! peripheral nervous system disease property_value: closeMatch http://identifiers.org/snomedct/154622009 property_value: closeMatch http://identifiers.org/snomedct/189950003 property_value: closeMatch http://identifiers.org/snomedct/25169009 property_value: closeMatch http://identifiers.org/snomedct/274089002 property_value: exactMatch DOID:2001 property_value: exactMatch DOID:2001 property_value: exactMatch http://identifiers.org/mesh/D009463 property_value: exactMatch http://identifiers.org/mesh/D009463 property_value: exactMatch http://identifiers.org/snomedct/443892003 property_value: exactMatch http://identifiers.org/snomedct/443892003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027858 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027858 property_value: exactMatch NCIT:C3275 property_value: exactMatch NCIT:C3275 property_value: excluded_subClassOf MONDO:0000648 {source="DOID:2001"} property_value: excluded_subClassOf MONDO:0002547 {source="MESH:D009463"} [Term] id: EFO:0009620 name: rib fracture def: "A traumatic or pathologic injury to the rib in which the continuity of the rib is broken. [ NCI ]" [] xref: ICD10:S22 xref: MedDRA:10039117 xref: NCIt:C34990 is_a: EFO:0003931 ! bone fracture property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009621 name: shoulder fracture def: "A traumatic break in one or more of the bones that compose the shoulder joint. [ NCI ]" [] xref: MedDRA:10049128 xref: NCIt:C35021 is_a: EFO:0003931 ! bone fracture property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009622 name: fracture of pelvis def: "A traumatic break in one or more of the bones that compose the bony structure of the pelvis. [ NCI ]" [] xref: MedDRA:10017183 xref: MedDRA:10017184 xref: MedDRA:10017185 xref: NCIt:C35153 is_a: EFO:0003931 ! bone fracture property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009623 name: nose injury def: "Trauma to the nose. [ NCI ]" [] xref: MedDRA:10054854 xref: NCIt:C35349 is_a: EFO:0009505 ! head injury property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009624 name: pulmonary alveolitis def: "Inflammation of the alveoli of the lung. [ NCI ]" [] xref: MedDRA:10037317 xref: NCIt:C35482 is_a: EFO:0003818 ! lung disease [Term] id: EFO:0009625 name: facial pain def: "Painful sensation in the face. [ NCI ]" [] xref: MedDRA:10016059 xref: NCIt:C79594 is_a: EFO:0003843 ! pain property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009626 name: pyloric stenosis def: "Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer." [NCIT:C34966] def: "Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer. [ NCIt:C34966 ]" [] synonym: "gastric outflow obstruction" EXACT [DOID:3122] synonym: "gastric outlet obstruction" EXACT [MONDO:0006768, NCIT:C34966] synonym: "GOO" EXACT ABBREVIATION [Wikipedia:Gastric_outlet_obstruction] synonym: "pyloric stenosis" EXACT [MONDO:ambiguous, NCIT:C34966] synonym: "pyloric stenosis" EXACT [] {comment="preferred label from MONDO"} synonym: "pyloric stenosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:12639 {source="MONDO:equivalentTo"} xref: DOID:3122 {source="EFO:1000947", source="MONDO:equivalentTo"} xref: EFO:1000947 {source="MONDO:equivalentTo"} xref: HP:0002021 {source="MONDO:otherHierarchy"} xref: MedDRA:10037621 xref: MedDRA:10062499 {source="EFO:1000947"} xref: MESH:D011707 {source="MONDO:equivalentTo", source="DOID:12639"} xref: MESH:D017219 {source="DOID:3122", source="EFO:1000947", source="MONDO:equivalentTo"} xref: MONDO:0001561 xref: NCIT:C34966 {source="MONDO:equivalentTo", source="DOID:12639"} xref: SCTID:367403001 {source="MONDO:equivalentTo", source="DOID:12639"} is_a: EFO:0009608 {source="DOID:12639/inferred", source="DOID:3122", source="MESH:D011707/inferred", source="MESH:D017219", source="NCIT:C34966/inferred"} ! stomach disease property_value: closeMatch http://identifiers.org/meddra/10062499 property_value: exactMatch DOID:12639 property_value: exactMatch DOID:3122 property_value: exactMatch http://identifiers.org/mesh/D011707 property_value: exactMatch http://identifiers.org/mesh/D017219 property_value: exactMatch http://identifiers.org/snomedct/367403001 property_value: exactMatch NCIT:C34966 property_value: IAO:0000589 "pyloric stenosis (disease)" xsd:string [Term] id: EFO:0009627 name: collecting specimen from organ postmortem def: "collection of a tissue specimen from an organism after death, for example during a postmortem examination" [] is_a: OBI:0600005 ! collecting specimen from organism property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009628 name: abnormal result of function studies def: "Abnormal result of a test meant to evaluate functionality of an organ or system, such as electroencephalogram, electrocardiogram, glucose tolerance test and others." [] xref: ICD10:R94 is_a: EFO:0000720 ! test result property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009629 name: event def: "Something that happens at a given place and time. [ NCI ]" [] xref: NCIt:C25499 is_a: BFO:0000015 ! process [Term] id: EFO:0009630 name: convalescence def: "A processual entity during which a patient participating in a disease course gradually returns to participating in a canonical life course." [] xref: http://purl.obolibrary.org/obo/OGMS_0000091 xref: http://purl.obolibrary.org/obo/OMIT_0004594 xref: ICD10:Z54 is_a: EFO:0009629 ! event [Term] id: EFO:0009631 name: fall def: "A sudden movement downward, usually resulting in injury. [ NCI ]" [] xref: ICD10:W19 xref: NCIt:C50558 is_a: EFO:0009629 ! event property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009632 name: amputation def: "The surgical removal of all or part of a limb or other appendage. [ NCI ]" [] xref: ICD10:Z89 xref: NCIt:C15179 is_a: EFO:0002571 ! medical procedure property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009633 name: tissue donor def: "Someone who gives tissue to be used in another person. [ NCI ]" [] xref: ICD10:Z52 xref: NCIt:C25168 is_a: BFO:0000023 ! role [Term] id: EFO:0009634 name: organ donor def: "Someone from whom an organ is removed for transplantation or other purpose. [ NCI ]" [] xref: ICD10:Z52 xref: NCIt:C100810 is_a: BFO:0000023 ! role [Term] id: EFO:0009635 name: blood donor def: "Someone from whom blood is removed for transfusion or other purpose. [ NCI ]" [] xref: NCIt:C132448 is_a: BFO:0000023 ! role property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009636 name: cesarean section def: "Surgical delivery of one or more intrauterine fetuses though an abdominal incision. [NCIT]" [] synonym: "caesarean section" EXACT [] xref: ICD10:O82 xref: NCIt:C46088 is_a: EFO:0002571 ! medical procedure property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009637 name: pleural effusion def: "Increased amount of fluid within the pleural cavity. Symptoms include shortness of breath, cough, and chest pain. It is usually caused by lung infections, congestive heart failure, pleural and lung tumors, connective tissue disorders, and trauma. [NCIT]" [] xref: ICD10:J90 xref: MedDRA:10035598 xref: NCIt:C3331 is_a: EFO:0003765 ! sign or symptom property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009638 name: spontaneous labor and birth def: "Initiation of labor without the use of pharmacological and/or mechanical interventions, resulting in a non-operative vaginal birth. [NCIT]" [] xref: ICD10:O80 xref: NCIt:C114102 is_a: EFO:0009629 ! event [Term] id: EFO:0009639 name: Braxton-Hicks contractions def: "Irregular infrequent uterine contractions typically characteristic of the third trimester of pregnancy that do not result in cervical change or labor. [def-source: NCI][attr: NICHD]" [] synonym: "false labour" EXACT [] xref: ICD10:O47 xref: NCIt:C113488 is_a: EFO:0003765 ! sign or symptom property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009640 name: family history of cancer def: "A form of clinicaly history specifically about cancer in family members." [] synonym: "family history of malignant neoplasm" EXACT [] xref: ICD10:Z80 is_a: EFO:0000493 ! family history property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009641 name: malaise def: "A feeling of general discomfort or uneasiness, an out-of-sorts feeling. [def-source: NCI][attr: CDC Glossary]" [] xref: ICD10:R53 xref: MedDRA:10025482 xref: NCIt:C3832 is_a: EFO:0003765 ! sign or symptom property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009642 name: follow-up def: "The process by which information about the health status of an individual is obtained after a study has officially closed; an activity that continues something that has already begun or that repeats something that has already been done. [def-source: NCI]" [] comment: EFO:0009642 'follow-up' refers to the medical procedure process of running follow-ups; EFO:0030038 'follow up status' refers to an observed quality. synonym: "follow up" EXACT [] xref: ICD10:Z08 xref: ICD10:Z09 xref: ICD10:Z42 xref: ICD10:Z48 xref: NCIt:C16033 is_a: EFO:0002571 ! medical procedure [Term] id: EFO:0009643 name: pregnancy test def: "Any examination performed to assess if a female is gravid. [def-source: NCI]" [] xref: ICD10:Z32 xref: NCIt:C92949 is_a: EFO:0002571 ! medical procedure [Term] id: EFO:0009644 name: neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy def: "Stephen et al. (2018) reported 2 brothers, born of unrelated parents of Indian descent, with NDMSCA. The elder brother was born with microcephaly (-6 SD), small anterior fontanel, prominent sutural ridging, and weak cry. He developed seizures in the first month of life and did not acquire any developmental milestones. Brain imaging at 4 months of age showed diffuse cerebral atrophy with thinning of the corpus callosum, and ophthalmologic examination showed myopic astigmatism. He died at age 1 year due to a severe respiratory infection. The proband was a 3-year-old boy with global developmental delay, progressive microcephaly (-9 SD), no head control, no speech, and generalized hypotonia with contractures of the ankles and fingers. He developed refractory seizures at 2 months of age. He also had swallowing difficulties and was tube-fed. Both patients had dysmorphic facial features, including low-set ears, long eyelashes, sloping forehead, micrognathia, and short nose with flat nasal bridge. Brain imaging showed progressive cerebral and cerebellar atrophy, decreased white matter, subcortical white matter hyperintensities, and thinning of corpus callosum. Karyotype analysis showed increased chromosomal breakage." [] synonym: "NDMSCA" EXACT [] synonym: "NDMSCA" RELATED ABBREVIATION [OMIM:617802] synonym: "neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy" EXACT [] {comment="preferred label from MONDO"} synonym: "neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy" EXACT [OMIM:617802] xref: MONDO:0060621 xref: OMIM:617802 {source="MONDO:equivalentTo"} xref: UMLS:C4540493 {source="OMIM:617802", source="MONDO:equivalentTo"} is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540493 property_value: exactMatch https://omim.org/entry/617802 property_value: IAO:0000117 "Baron Koylass" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: EFO:0009645 name: neurodevelopmental disorder with or without anomalies of the brain, eye, or heart def: "Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart is an autosomal dominant syndrome characterized by onset in infancy of developmental delay, intellectual disability, and behavioral disorders, such as autism spectrum disorders. About half of patients have additional abnormalities, most commonly involving the eye, heart, and genitourinary system. The phenotype is reminiscent of that observed in patients with 1p36 deletion syndrome (607872); RERE is located in the proximal 1p36 critical region (summary by Fregeau et al., 2016)." [] synonym: "NEDBEH" EXACT ABBREVIATION [OMIM:616975] synonym: "neurodevelopmental disorder with or without anomalies of the brain, eye, or heart" EXACT [OMIM:616975] synonym: "neurodevelopmental disorder with or without anomalies of the brain, eye, or heart" EXACT [] {comment="preferred label from MONDO"} synonym: "neurodevelopmental disorder with or without anomalies of the brain, eye, or heart; NEDBEH" EXACT [] synonym: "rere-related neurodevelopmental syndrome" EXACT [Orphanet:494344] xref: MONDO:0014857 xref: OMIM:616975 {source="MONDO:equivalentTo"} xref: Orphanet:494344 {source="MONDO:equivalentTo"} xref: UMLS:C4310772 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310772 property_value: exactMatch https://omim.org/entry/616975 property_value: exactMatch Orphanet:494344 property_value: IAO:0000117 "Baron Koylass" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: EFO:0009646 name: macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss def: "An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD." [Orphanet:182050] def: "Macrothrombocytopenia and granulocyte inclusions that may present with or without both nephritis or senorineural hearing loss." [] subset: gard_rare subset: ordo_disease {source="Orphanet:182050"} synonym: "Alport syndrome with macrothrombocytopenia" RELATED [OMIM:153640] synonym: "Alport syndrome with macrothrombocytopenia, formerly" RELATED [OMIM:153640] synonym: "bleeding disorder, Platelet-type, 6" RELATED [OMIM:155100] synonym: "Brodie Chole griffin syndrome" RELATED [GARD:0000179] synonym: "Brodie Chole gryphon syndrome" RELATED OMO:0003005 [] synonym: "Dohle leukocyte inclusions with giant platelets" RELATED [OMIM:155100] synonym: "Epstein syndrome" EXACT [GARD:0000180, OMIM:153650] synonym: "Fechtner syndrome" EXACT [GARD:0000180, MONDO:Lexical, OMIM:153640] synonym: "FTNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:153640] synonym: "giant platelet syndrome with thrombocytopenia" EXACT [OMIM:155100] synonym: "macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss" EXACT [] {comment="preferred label from MONDO"} synonym: "macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss" EXACT [OMIM:155100] synonym: "macrothrombocytopenia and progressive sensorineural deafness" EXACT [OMIM:600208] synonym: "macrothrombocytopenia progressive deafness" RELATED [GARD:0000179] synonym: "macrothrombocytopenia with dispersed leukocytic inclusions" RELATED [OMIM:605249] synonym: "macrothrombocytopenia with leukocyte inclusions" RELATED [OMIM:155100] synonym: "macrothrombocytopenia, nephritis, and deafness" RELATED [OMIM:153650] synonym: "macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions" RELATED [OMIM:153640] synonym: "matins" RELATED [OMIM:155100] synonym: "May-Hegglin anomaly" EXACT [GARD:0000180, MONDO:Lexical, OMIM:155100] synonym: "May-Hegglin thrombocytopenia" RELATED [Orphanet:850] synonym: "MHA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:155100] synonym: "MYH-9 related disease" EXACT [Orphanet:182050] synonym: "MYH9 related disorders" RELATED [GARD:0000180] synonym: "MYH9 related thrombocytopenia" RELATED [GARD:0000180] synonym: "MYH9-RD" EXACT [Orphanet:182050] synonym: "MYH9-related disease" EXACT [Orphanet:182050] synonym: "MYH9-related disorder" EXACT [Orphanet:182050] synonym: "MYH9-related syndrome" EXACT [Orphanet:182050] synonym: "MYH9-related syndromic thrombocytopenia" EXACT [Orphanet:182050] synonym: "SBS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605249] synonym: "Sebastian platelet syndrome" EXACT [GARD:0000180, OMIM:605249] synonym: "Sebastian syndrome" EXACT [GARD:0000180, MONDO:Lexical, OMIM:605249] xref: DOID:0060651 {source="MONDO:equivalentTo"} xref: ICD9:287.33 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:582.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537831 {source="MONDO:equivalentTo"} xref: MONDO:0015912 xref: NCIT:C131646 {source="MONDO:equivalentTo"} xref: NCIT:C158788 {source="MONDO:equivalentTo"} xref: OMIM:153640 {source="DOID:0060651", source="MONDO:equivalentObsolete"} xref: OMIM:155100 {source="DOID:0060651", source="MONDO:equivalentTo"} xref: OMIM:600208 {source="Orphanet:182050/btnt", source="Orphanet:182050", source="MONDO:equivalentObsolete", source="GARD:0000179"} xref: OMIM:605249 {source="DOID:0060651", source="MONDO:equivalentObsolete"} xref: Orphanet:1019 {source="MONDO:equivalentObsolete", source="OMIM:153650"} xref: Orphanet:182050 {source="DOID:0060651", source="MONDO:equivalentTo", source="OMIM:600208"} xref: Orphanet:1984 {source="MONDO:equivalentObsolete", source="OMIM:153640"} xref: Orphanet:807 {source="OMIM:605249", source="MONDO:equivalentObsolete"} xref: Orphanet:850 {source="MONDO:equivalentObsolete", source="OMIM:155100"} xref: SCTID:234484005 {source="MONDO:equivalentTo"} xref: SCTID:234485006 {source="MONDO:equivalentTo"} xref: SCTID:236422008 {source="MONDO:equivalentTo"} xref: SCTID:712922002 {source="MONDO:equivalentTo"} xref: UMLS:C1834478 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:600208"} xref: UMLS:CN226018 {source="MONDO:equivalentObsolete"} xref: UMLS:CN226030 {source="MONDO:equivalentObsolete"} xref: UMLS:CN226270 {source="MONDO:equivalentObsolete"} is_a: MONDO:0000009 {source="DC-OMIM:155100", source="MONDO:Redundant", source="OMIM:155100"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0002254 {source="NCIT:C131639", source="NCIT:C131642", source="NCIT:C131646", source="NCIT:C131650"} ! syndromic disease is_a: MONDO:0018795 {source="Orphanet:182050"} ! syndromic constitutional thrombocytopenia is_a: Orphanet:182050 ! MYH9-related disease property_value: exactMatch DOID:0060651 property_value: exactMatch http://identifiers.org/mesh/C537831 property_value: exactMatch http://identifiers.org/snomedct/234484005 property_value: exactMatch http://identifiers.org/snomedct/234485006 property_value: exactMatch http://identifiers.org/snomedct/236422008 property_value: exactMatch http://identifiers.org/snomedct/712922002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834478 property_value: exactMatch https://omim.org/entry/155100 property_value: exactMatch NCIT:C131646 property_value: exactMatch NCIT:C158788 property_value: exactMatch Orphanet:182050 property_value: IAO:0000117 "Baron Koylass" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/180/myh9-related-thrombocytopenia xsd:anyURI {source="GARD:0000180"} [Term] id: EFO:0009647 name: epilepsy, hearing loss, and intellectual disability syndrome def: "Epilepsy, hearing loss, and intellectual disability syndrome is an autosomal recessive disorder characterized by severe neurologic impairment including intellectual disability, intractable epilepsy, microcephaly, abnormal muscle tone, and sensorineural hearing loss. Most affected individuals are nonambulatory, cannot sit unassisted, and have no speech development. More variable features include feeding difficulties, poor growth, cortical visual impairment, spasticity, scoliosis, immunodeficiency, and thrombocytopenia." [] synonym: "EHLMRS" EXACT [] xref: OMIM:616577 is_a: EFO:0000508 ! genetic disorder property_value: IAO:0000117 "Baron Koylass" xsd:string [Term] id: EFO:0009648 name: parp inhibitor response def: "Response to PARP inhibitors, a group of pharmacological inhibitors of the enzyme poly ADP ribose polymerase (PARP). They are developed for multiple indications; the most important is the treatment of cancer." [] xref: Wikipedia:PARP_inhibitor is_a: GO:0009410 ! response to xenobiotic stimulus property_value: IAO:0000117 "Baron Koylass" xsd:string [Term] id: EFO:0009649 name: susceptibility to breast cancer def: "Susceptibility to breast cancer due to genetic mutation." [] synonym: "breast cancer, susceptibility to" EXACT [] is_a: EFO:0000305 ! breast carcinoma property_value: IAO:0000117 "Baron Koylass" xsd:string [Term] id: EFO:0009650 name: hyperproinsulinemia def: "Hyperproinsulinemia is a disease where insulin is not sufficiently processed before secretion and immature forms of insulin make up the majority of circulating insulin immunoreactivity in both fasting and glucose-stimulated conditions (insulin immunoreactivity refers to all molecules detectable by an insulin antibody, i.e. insulin, proinsulin, and proinsulin-like material)." [] synonym: "hyperproinsulinemia" EXACT [] {comment="preferred label from MONDO"} synonym: "hyperproinsulinemia" EXACT [OMIM:616214] xref: ICD9:250.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562776 {source="MONDO:equivalentTo"} xref: MeSH:C562776 xref: MONDO:0014535 xref: OMIM:616214 {source="MONDO:equivalentTo"} xref: SCTID:237613005 {source="MONDO:equivalentTo"} xref: UMLS:C0342283 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: Wikipedia:Hyperproinsulinemia is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: definition:citation SCTID:237613005 xsd:string property_value: exactMatch http://identifiers.org/mesh/C562776 property_value: exactMatch http://identifiers.org/snomedct/237613005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342283 property_value: exactMatch https://omim.org/entry/616214 [Term] id: EFO:0009651 name: rag2 deficiency def: "Recombination activating gene 2 protein (also known as RAG-2) is a lymphocyte-specific protein encoded by RAG2 gene on human chromosome 11. Together with RAG1 protein, RAG2 forms a V(D)J recombinase, a protein complex required for the process of V(D)J recombination during which the variable regions of immunoglobulin and T cell receptor genes are assembled in developing B and T lymphocytes. Therefore, RAG2 is essential for generation of mature B and T lymphocytes." [] synonym: "RAG-2 deficiency" EXACT [] synonym: "recombination activating gene 2 deficiency" EXACT [] synonym: "V(D)J recombination-activating protein 2 deficiency" EXACT [] xref: Wikipedia:RAG2 is_a: EFO:0000540 ! immune system disease property_value: IAO:0000117 "Baron Koylass" xsd:string [Term] id: EFO:0009652 name: neointimal hyperplasia def: "A hyperplasia due to proliferation and migration of vascular smooth muscle cells primarily in the tunica intima. It may develop after percutaneous coronary interventions such as stenting or angioplasty, and involves platelet aggregation at site of injury, recruitment of inflammatory cells, proliferation and migration of vascular smooth muscle cells, and collagen deposition, resulting in the thickening of arterial walls and decreased arterial lumen space. The term neointima is used because the cells in the hyperplastic regions of the vascular wall have histological characteristics of both intima and normal artery cells." [] synonym: "adverse neointimal proliferation" EXACT [] synonym: "artery neointimal hyperplastic lesion" EXACT [] synonym: "neointima formation" EXACT [] synonym: "neointimal healing" EXACT [] synonym: "neointimal hyperplasia after vascular injury" EXACT [] synonym: "neointimal proliferation" EXACT [] xref: MedDRA:10076851 xref: Wikipedia:Neointimal_hyperplasia is_a: EFO:0000536 ! hyperplasia [Term] id: EFO:0009653 name: RNA-seq of total RNA def: "An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the total cellular and organelle RNA molecules isolated from a specimen, to analyse these and/or to quantitate transcript abundance." [] is_a: EFO:0002770 ! transcription profiling by high throughput sequencing property_value: definition:citation https://orcid.org/0000-0002-4007-2899 xsd:string [Term] id: EFO:0009654 name: reference sample def: "A material sample derived from cells or tissue representing a physiologically or phenotypically normal state." [] synonym: "baseline reference sample" EXACT [] synonym: "germline reference sample" EXACT [] synonym: "inherited reference sample" EXACT [] synonym: "native sample" EXACT [] synonym: "non-neoplastic sample" EXACT [] xref: CL:0000003 is_a: EFO:0001427 ! case control design is_a: OBI:0000747 ! material sample relationship: RO:0000086 PATO:0000461 ! has_quality normal property_value: IAO:0000117 "Paola Roncaglia" xsd:string property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009655 name: abnormal sample def: "A material sample derived from cells or tissue representing an observed or suspected physiologically, genomically or phenotypically abnormal state." [] synonym: "abnormal tissue sample" EXACT [] synonym: "altered sample" EXACT [] is_a: EFO:0001427 ! case control design is_a: OBI:0000747 ! material sample relationship: RO:0000086 PATO:0000460 ! has_quality abnormal property_value: IAO:0000117 "Paola Roncaglia" xsd:string property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009656 name: neoplastic sample def: "A material sample derived from neoplastic cells or tissue." [] comment: Note that this term is not meant to replace a histological or anatomical quality. While the neoplastic specification was desirable in the context of one particular use case, any further specification of children of ‘reference sample’ or ‘abnormal sample’ (e.g. benign, malignant, grade, anatomical attribution) should not become part of this subtree. synonym: "tumor sample" EXACT [] is_a: EFO:0009655 ! abnormal sample property_value: IAO:0000117 "Paola Roncaglia" xsd:string property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0009657 name: acute pharyngitis def: "An acute and painful inflammatory process that affects the pharynx. It is usually caused by viruses and less often bacteria. Signs and symptoms include discomfort on swallowing, low-grade fever, headache, and earache." [NCIT:C34355] def: "An acute and painful inflammatory process that affects the pharynx. It is usually caused by viruses and less often bacteria. Signs and symptoms include discomfort on swallowing, low-grade fever, headache, and earache. [database_cross_reference: NCIt:C34355]" [] synonym: "acute pharyngitis" EXACT [NCIT:C34355] synonym: "acute pharyngitis" EXACT [] {comment="preferred label from MONDO"} synonym: "pharyngitis, acute" EXACT [MONDO:patterns/acute] xref: ICD10:J02 xref: MedDRA:1000MedDRA\:1002 xref: MONDO:0020600 xref: NCIT:C34355 {source="MONDO:equivalentTo"} xref: NCIt:C34355 xref: SCTID:363746003 {source="MONDO:equivalentTo"} is_a: MONDO:0002258 {source="NCIT:C34355"} ! pharyngitis is_a: MONDO:0020683 ! acute disease property_value: exactMatch http://identifiers.org/snomedct/363746003 property_value: exactMatch NCIT:C34355 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009658 name: adverse effect def: "An undesired harmful effect resulting from a medication or other intervention such as surgery." [] synonym: "adverse reaction" EXACT [] xref: ICD10:T78 xref: MedDRA:10060933 xref: Wikipedia:Adverse_effect is_a: EFO:0009518 ! complication property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009659 name: aneurysm def: "Bulging or ballooning in an area of an artery secondary to arterial wall weakening. [ NCI ]" [] xref: ICD10:I72 xref: MedDRA:10002329 xref: NCIt:C26693 is_a: EFO:0004264 ! vascular disease [Term] id: EFO:0009660 name: anus disease def: "A non-neoplastic or neoplastic disorder that affects the anal canal or anal margin. Representative examples of non-neoplastic disorders include hemorrhoids and anal ulcer. Representative examples of neoplastic disorders include carcinoma, lymphoma, and melanoma." [NCIT:C26695] def: "A non-neoplastic or neoplastic disorder that affects the anal canal or anal margin. Representative examples of non-neoplastic disorders include hemorrhoids and anal ulcer. Representative examples of neoplastic disorders include carcinoma, lymphoma, and melanoma. [database_cross_reference: NCIt:C26695]" [] synonym: "anal disease" EXACT [DOID:3128] synonym: "anal disorder" EXACT [NCIT:C26695] synonym: "anal fissure" RELATED [DOID:3128] synonym: "anal fissure and fistula" RELATED [DOID:3128] synonym: "anal ulcer" RELATED [DOID:3128] synonym: "anus disease" EXACT [MONDO:patterns/location] synonym: "anus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "anus disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "disease of anus" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of anus" EXACT [] synonym: "disorder of anal region" EXACT [] synonym: "disorder of anus" EXACT [MONDO:patterns/location_top] synonym: "fissure in ano" RELATED [DOID:3128] synonym: "nontraumatic tear of anus" RELATED [DOID:3128] synonym: "solitary anal ulcer" RELATED [DOID:3128] synonym: "Ulcer of anus" RELATED [DOID:3128] xref: DOID:3128 {source="MONDO:equivalentTo"} xref: ICD10:K62 xref: MESH:D001004 {source="DOID:3128", source="MONDO:equivalentTo"} xref: MONDO:0002519 xref: NCIT:C26695 {source="DOID:3128", source="MONDO:equivalentTo"} xref: NCIt:C26695 xref: SCTID:32110003 {source="DOID:3128", source="MONDO:equivalentTo"} xref: UMLS:C0003462 {source="NCIT:C26695", source="DOID:3128", source="MONDO:equivalentTo"} xref: UMLS:C0016167 {source="MONDO:equivalentTo"} xref: UMLS:C1301262 {source="MONDO:equivalentTo"} is_a: EFO:0009685 {source="DOID:3128", source="MESH:D001004"} ! rectal disease property_value: exactMatch DOID:3128 property_value: exactMatch http://identifiers.org/mesh/D001004 property_value: exactMatch http://identifiers.org/snomedct/32110003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003462 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016167 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1301262 property_value: exactMatch NCIT:C26695 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009661 name: bronchitis def: "An acute or chronic inflammatory process affecting the bronchi." [NCIT:C2911] def: "An acute or chronic inflammatory process affecting the bronchi. [database_cross_reference: NCIt:C2911]" [] synonym: "acute bronchitis" NARROW [DOID:6132, NCIT:C26932] synonym: "acute bronchitis and bronchiolitis" RELATED [DOID:6132] synonym: "bronchial infection" EXACT [NCIT:C2911] synonym: "bronchitis" EXACT [] {comment="preferred label from MONDO"} synonym: "bronchus inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "chest cold" RELATED [DOID:6132] synonym: "chest infection" RELATED [DOID:6132] synonym: "chronic bronchitis" NARROW [DOID:6132] synonym: "CI - chest infection" EXACT [DOID:6132] synonym: "inflammation of bronchus" EXACT [] synonym: "recurrent wheezy bronchitis" RELATED [DOID:6132] xref: CSP:2596-1500 {source="DOID:6132"} xref: DOID:6132 {source="MONDO:equivalentTo"} xref: HP:0012387 xref: ICD10:J40 xref: ICD9:466.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:6132"} xref: ICD9:490 {source="DOID:6132"} xref: ICD9:491 {source="DOID:6132"} xref: ICD9:491.9 {source="DOID:6132"} xref: MedDRA:10006451 xref: MedDRA:10006462 xref: MESH:D001991 {source="MONDO:equivalentTo", source="DOID:6132"} xref: MONDO:0003781 xref: NCIT:C2911 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:6132"} xref: NCIt:C2911 xref: SCTID:32398004 {source="MONDO:equivalentTo", source="DOID:6132"} xref: UMLS:C0006277 {source="MONDO:equivalentTo", source="DOID:6132", source="NCIT:C2911"} is_a: EFO:1002018 {source="DOID:6132", source="MESH:D001991", source="MONDO:Redundant"} ! bronchial disease is_a: MONDO:0021925 ! tracheobronchitis property_value: exactMatch DOID:6132 property_value: exactMatch http://identifiers.org/mesh/D001991 property_value: exactMatch http://identifiers.org/snomedct/32398004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006277 property_value: exactMatch NCIT:C2911 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009662 name: common wart def: "A wart caused by human papillomavirus. It can appear anywhere on the skin." [NCIT:C27087] synonym: "common wart" EXACT [NCIT:C27087] synonym: "common wart" EXACT [] {comment="preferred label from MONDO"} synonym: "common wart" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "verruca vulgaris" EXACT [NCIT:C27087] synonym: "viral wart" RELATED [] synonym: "viral Warts" RELATED [] synonym: "viral Warts due to papilloma virus" RELATED [] synonym: "wart" RELATED [] xref: DOID:11165 {source="MONDO:equivalentTo"} xref: ICD10:B07 {source="DOID:11165"} xref: ICD10:B07.8 {source="DOID:11165"} xref: ICD9:078.1 {source="DOID:11165"} xref: ICD9:078.10 {source="MONDO:equivalentTo", source="i2s"} xref: ICD9:078.10 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:078.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:078.19 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D014860 {source="MONDO:equivalentTo"} xref: MONDO:0001209 xref: NCIT:C27087 {source="MONDO:equivalentTo", source="DOID:11165"} xref: SCTID:57019003 {source="MONDO:equivalentTo", source="DOID:11165"} xref: UMLS:C0043037 {source="NCIT:C27087", source="MONDO:equivalentTo", source="DOID:11165"} is_a: EFO:0000763 {source="DOID:11165", source="MESH:D014860/inferred", source="MONDO:Redundant"} ! viral disease is_a: MONDO:0024294 ! skin disorder caused by infection is_a: MONDO:0024666 {source="NCIT:C27087"} ! benign epithelial skin neoplasm property_value: closeMatch http://identifiers.org/snomedct/123201004 property_value: closeMatch http://identifiers.org/snomedct/154361008 property_value: closeMatch http://identifiers.org/snomedct/186685000 property_value: closeMatch http://identifiers.org/snomedct/186686004 property_value: closeMatch http://identifiers.org/snomedct/266198004 property_value: closeMatch http://identifiers.org/snomedct/30285000 property_value: closeMatch http://identifiers.org/snomedct/367507002 property_value: closeMatch http://identifiers.org/snomedct/75003008 property_value: closeMatch NCIT:C5028 property_value: exactMatch DOID:11165 property_value: exactMatch DOID:11165 property_value: exactMatch http://identifiers.org/mesh/D014860 property_value: exactMatch http://identifiers.org/mesh/D014860 property_value: exactMatch http://identifiers.org/snomedct/57019003 property_value: exactMatch http://identifiers.org/snomedct/57019003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043037 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043037 property_value: exactMatch NCIT:C27087 property_value: exactMatch NCIT:C27087 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009663 name: disease of genitourinary system def: "A disease that involves the genitourinary system. [database_cross_reference: MONDO:patterns/location]" [] xref: ICD10:N99 xref: MONDO:0021145 is_a: EFO:0003863 ! urogenital neoplasm property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009664 name: disease of orbital region def: "A disease that involves the orbital region." [MONDO:patterns/location] def: "A disease that involves the orbital region. [database_cross_reference: MONDO:patterns/location]" [] synonym: "disease of orbital region" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of orbital region" EXACT [] synonym: "disorder of eye region" EXACT [] synonym: "disorder of orbital region" EXACT [] {comment="preferred label from MONDO"} synonym: "disorder of orbital region" EXACT [MONDO:patterns/location_top] synonym: "eye and adnexa disease" RELATED [DOID:1492] synonym: "ophthalmological disorder" RELATED [] synonym: "orbital region disease" EXACT [MONDO:design_pattern] synonym: "orbital region disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:1492 {source="MONDO:equivalentObsolete"} xref: ICD10:H05 xref: ICD10CM:H00-H59 {source="MONDO:equivalentTo"} xref: ICD9:362.10 {source="DOID:1492"} xref: MONDO:0002022 xref: SCTID:371409005 {source="MONDO:equivalentTo"} is_a: EFO:0000524 ! head and neck disorder property_value: exactMatch http://identifiers.org/snomedct/371409005 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H00-H59 property_value: excluded_subClassOf MONDO:0005128 {source="DOID:1492"} [Term] id: EFO:0009665 name: disorder of patella def: "A disease involving the patella, a large sesamoid bone found in the distal femur/proximal tibial region of the hindlimb of tetrapods. The patella is the attachment site for proximal hindlimb tendons." [] synonym: "patella disease" EXACT [] xref: ICD10:M22 is_a: EFO:0004260 ! bone disease property_value: definition:citation UBERON:0002446 xsd:string property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009666 name: enthesopathy def: "A disorder involving the attachment of a tendon or ligament to a bone" [Wikipedia:Enthesopathy] def: "A disorder involving the attachment of a tendon or ligament to a bone [database_cross_reference: https://en.wikipedia.org/wiki/Enthesopathy]" [] synonym: "disease of enthesis" EXACT [MONDO:design_pattern, MONDO:patterns/location_top] synonym: "disease or disorder of enthesis" EXACT [] synonym: "disorder of enthesis" EXACT [MONDO:design_pattern, MONDO:patterns/location_top] synonym: "enthesis disease" EXACT [MONDO:design_pattern] synonym: "enthesis disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "enthesopathy" EXACT [] {comment="preferred label from MONDO"} xref: DOID:204 {source="MONDO:equivalentTo"} xref: ICD10:M76 xref: ICD10:M77 xref: ICD9:726.9 {source="DOID:204"} xref: ICD9:726.90 {source="DOID:204", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10014910 xref: MESH:D000070676 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: MESH:D012216 {source="DOID:204", source="MONDO:directSiblingOf"} xref: MONDO:0002183 xref: SCTID:23680005 {source="DOID:204", source="MONDO:equivalentTo"} xref: UMLS:C0242490 {source="DOID:204", source="MONDO:equivalentTo"} is_a: EFO:0009676 {source="DOID:204/inferred", source="MONDO:Redundant", source="MONDO:cjm"} ! musculoskeletal system disease is_a: EFO:1001986 {source="DOID:204", source="MONDO:Entailed", source="MONDO:Redundant"} ! connective tissue disease property_value: exactMatch DOID:204 property_value: exactMatch http://identifiers.org/mesh/D000070676 property_value: exactMatch http://identifiers.org/snomedct/23680005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242490 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009667 name: eustachian tube disease def: "A disease involving the pharyngotympanic tube." [MONDO:patterns/location_top] def: "A disease involving the pharyngotympanic tube. [database_cross_reference: MONDO:patterns/location_top]" [] synonym: "auditory tube disorder" RELATED [] synonym: "disease of eustachian tube" RELATED [] synonym: "disease of pharyngotympanic tube" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of pharyngotympanic tube" EXACT [] synonym: "disorder of eustachian tube" RELATED [] synonym: "disorder of pharyngotympanic tube" EXACT [MONDO:patterns/location_top] synonym: "eustachian tube disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "pharyngotympanic tube disease" EXACT [MONDO:patterns/location] synonym: "pharyngotympanic tube disease or disorder" EXACT [MONDO:patterns/location] xref: DOID:9739 {source="MONDO:equivalentTo"} xref: ICD10:H69 xref: ICD10CM:H68 {source="MONDO:equivalentTo"} xref: ICD9:381.8 {source="DOID:9739"} xref: ICD9:381.89 {source="MONDO:relatedTo", source="DOID:9739", source="MONDO:i2s"} xref: ICD9:381.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MONDO:0004866 xref: SCTID:69494008 {source="MONDO:equivalentTo"} xref: UMLS:C0271468 {source="MONDO:equivalentTo"} is_a: MONDO:0003276 ! middle ear disorder property_value: exactMatch DOID:9739 property_value: exactMatch http://identifiers.org/snomedct/69494008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271468 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H68 property_value: excluded_subClassOf MONDO:0001212 {source="DOID:9739"} property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009668 name: external ear disease def: "A disease involving the external ear." [https://orcid.org/0000-0002-6601-2165] def: "A disease involving the external ear. [database_cross_reference: MONDO:DesignPattern]" [] synonym: "disease of external ear" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of external ear" EXACT [] synonym: "disorder of external ear" EXACT [MONDO:patterns/location_top] synonym: "external ear disease" EXACT [MONDO:patterns/location] synonym: "external ear disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "external ear disorder" EXACT [NCIT:C26972] synonym: "external ear disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "preauricular cyst" RELATED DUBIOUS [DOID:379] synonym: "preauricular cyst (disorder)" RELATED DUBIOUS [DOID:379] synonym: "preauricular sinus and fistula" EXACT [DOID:379] synonym: "preauricular sinus and fistula (disorder)" RELATED DUBIOUS [DOID:379] synonym: "preauricular sinus or fistula" RELATED DUBIOUS [DOID:379] synonym: "preauricular sinus or fistula NOS (disorder)" RELATED DUBIOUS [DOID:379] xref: DOID:379 {source="MONDO:equivalentTo"} xref: ICD10:H61 xref: ICD10CM:H60-H62 {source="DOID:379", source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:380 {source="DOID:379"} xref: ICD9:380.9 {source="DOID:379"} xref: ICD9:744.47 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MONDO:0002776 xref: NCIT:C26972 {source="DOID:379", source="MONDO:equivalentTo"} xref: SCTID:49130001 {source="DOID:379", source="MONDO:equivalentTo"} xref: UMLS:C0155388 {source="DOID:379", source="MONDO:equivalentTo"} is_a: EFO:1001455 {source="DOID:379"} ! auditory system disease is_a: MONDO:0021205 {source="MONDO:Redundant", source="NCIT:C26972"} ! disorder of ear property_value: exactMatch DOID:379 property_value: exactMatch http://identifiers.org/snomedct/49130001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155388 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H60-H62 property_value: exactMatch NCIT:C26972 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009669 name: flatulence def: "A state of excessive gas in the alimentary canal. [ NCI ]" [] xref: ICD10:R14 xref: MedDRA:10016766 xref: MedDRA:10016767 xref: MedDRA:10016770 xref: MESH:D005414 xref: NCIt:C37954 xref: SNOMEDCT:267052005 is_a: EFO:0000405 ! digestive system disease property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009670 name: gingival disease def: "A disease involving the gingiva." [MONDO:patterns/location_top] def: "A disease involving the gingiva. [database_cross_reference: MONDO:patterns/location_top]" [] synonym: "disease of gingiva" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of gingiva" EXACT [] synonym: "disorder of gingiva" EXACT [MONDO:patterns/location_top] synonym: "gingiva disease" EXACT [MONDO:patterns/location] synonym: "gingiva disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "gingival disorder" EXACT [] {comment="preferred label from MONDO"} xref: DOID:1483 {source="MONDO:equivalentTo"} xref: ICD10:K06 xref: MedDRA:10018279 xref: MESH:D005882 {source="DOID:1483", source="MONDO:equivalentTo"} xref: MONDO:0002021 xref: NCIT:C173795 {source="MONDO:equivalentTo"} xref: SCTID:18718003 {source="DOID:1483", source="MONDO:equivalentTo"} xref: UMLS:C0017563 {source="DOID:1483", source="MONDO:equivalentTo"} is_a: MONDO:0002635 {source="DOID:1483", source="MESH:D005882"} ! periodontal disorder is_a: MONDO:0044992 ! mouth mucosa disorder property_value: exactMatch DOID:1483 property_value: exactMatch http://identifiers.org/mesh/D005882 property_value: exactMatch http://identifiers.org/snomedct/18718003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017563 property_value: exactMatch NCIT:C173795 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009671 name: hereditary ataxia def: "A hereditary disorder consisting of degeneration of the cerebellum and/or of the spine; most cases feature both to some extent, and therefore present with overlapping cerebellar and sensory ataxia, even though one is often more evident than the other. Hereditary disorders causing ataxia include autosomal dominant ones such as spinocerebellar ataxia, episodic ataxia, and dentatorubropallidoluysian atrophy, as well as autosomal recessive disorders such as Friedreich's ataxia (sensory and cerebellar, with the former predominating) and Niemann Pick disease, ataxia-telangiectasia (sensory and cerebellar, with the latter predominating), and abetalipoproteinaemia. An example of X-linked ataxic condition is the rare fragile X-associated tremor/ataxia syndrome or FXTAS." [] def: "An instance of an atactic disorder that is caused by an inherited genomic modification in an individual." [MONDO:patterns/hereditary] subset: disease_grouping subset: gard_rare {source="GARD:0006614"} subset: mondo_rare {source="PMID:24603320"} subset: ordo_group_of_disorders {source="Orphanet:183518"} synonym: "hereditary ataxia" EXACT [] {comment="preferred label from MONDO"} synonym: "rare hereditary ataxia" EXACT [MONDO:0015956, Orphanet:183518] synonym: "SCA" RELATED ABBREVIATION [GARD:0010748] xref: DOID:0050951 {source="MONDO:equivalentTo"} xref: ICD10:G11 xref: ICD10CM:G11 {source="MONDO:equivalentTo"} xref: MedDRA:10062002 xref: MESH:C531684 {source="MONDO:equivalentTo"} xref: MONDO:0000557 xref: MONDO:0100309 xref: Orphanet:183518 {source="MONDO:equivalentTo"} xref: SCTID:763597000 {source="MONDO:equivalentTo"} xref: Wikipedia:Ataxia#Hereditary_ataxias is_a: MONDO:0024237 ! inherited neurodegenerative disorder is_a: MONDO:0100308 {source="https://orcid.org/0000-0002-0736-9199"} ! atactic disorder intersection_of: MONDO:0100308 ! atactic disorder intersection_of: has_characteristic MONDO:0021152 ! inherited relationship: has_characteristic MONDO:0021136 {source="https://www.karger.com/Article/FullText/358801"} ! rare property_value: exactMatch DOID:0050951 property_value: exactMatch http://identifiers.org/mesh/C531684 property_value: exactMatch http://identifiers.org/snomedct/763597000 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G11 property_value: exactMatch Orphanet:183518 property_value: excluded_subClassOf MONDO:0000437 {source="Orphanet:183518"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6614/hereditary-ataxia xsd:anyURI {source="GARD:0006614"} [Term] id: EFO:0009672 name: inner ear disease def: "A non-neoplastic or neoplastic disorder affecting the inner ear. Causes are inner ear infections, head injuries, and neoplasms (e.g., acoustic schwannoma). Symptoms include dizziness, imbalance, nausea, and vision problems." [NCIT:C27166] def: "A non-neoplastic or neoplastic disorder affecting the inner ear. Causes are inner ear infections, head injuries, and neoplasms (e.g., acoustic schwannoma). Symptoms include dizziness, imbalance, nausea, and vision problems. [database_cross_reference: NCIt:C27166]" [] synonym: "disease of internal ear" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of internal ear" EXACT [] synonym: "disorder of internal ear" EXACT [MONDO:patterns/location_top] synonym: "inner Ear disorder" EXACT [NCIT:C27166] synonym: "inner ear disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "internal ear disease" EXACT [MONDO:patterns/location] synonym: "internal ear disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "internal Ear disorder" EXACT [NCIT:C27166] synonym: "labyrinthine disease" EXACT [DOID:2952] synonym: "vestibular disorder" NARROW [NCIT:C27166] xref: DOID:2952 {source="MONDO:equivalentTo"} xref: ICD10:H83 xref: ICD10CM:H80-H83 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="DOID:2952", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: MESH:D007759 {source="DOID:2952", source="MONDO:equivalentTo"} xref: MONDO:0002467 xref: NCIT:C27166 {source="DOID:2952", source="MONDO:equivalentTo"} xref: NCIt:C27166 xref: SCTID:232297009 {source="DOID:2952", source="MONDO:equivalentTo"} is_a: EFO:1001455 {source="DOID:2952"} ! auditory system disease is_a: MONDO:0021205 {source="MONDO:Redundant", source="NCIT:C27166"} ! disorder of ear property_value: exactMatch DOID:2952 property_value: exactMatch http://identifiers.org/mesh/D007759 property_value: exactMatch http://identifiers.org/snomedct/232297009 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H80-H83 property_value: exactMatch NCIT:C27166 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009673 name: laryngeal disease def: "A non-neoplastic or neoplastic disorder that affects the larynx. Representative examples include laryngitis, vocal cord polyp, squamous papilloma, and carcinoma." [NCIT:P378] def: "A non-neoplastic or neoplastic disorder that affects the larynx. Representative examples include laryngitis, vocal cord polyp, squamous papilloma, and carcinoma. [database_cross_reference: NCIt:P378]" [] synonym: "disease of larynx" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of larynx" EXACT [] synonym: "disorder of larynx" EXACT [MONDO:patterns/location_top] synonym: "disorder of the larynx" EXACT [] synonym: "laryngeal disease" EXACT [NCIT:C26810] synonym: "laryngeal disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "laryngeal disorder" EXACT [NCIT:C26810] synonym: "larynx disease" EXACT [MONDO:patterns/location] synonym: "larynx disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:786 {source="MONDO:equivalentTo"} xref: ICD10:J38 xref: ICD9:478.70 {source="DOID:786"} xref: MESH:D007818 {source="DOID:786", source="MONDO:equivalentTo"} xref: MONDO:0004382 xref: NCIT:C26810 {source="DOID:786", source="MONDO:equivalentTo"} xref: SCTID:60600009 {source="DOID:786", source="MONDO:equivalentTo"} xref: UMLS:C0023051 {source="DOID:786", source="MONDO:equivalentTo", source="NCIT:C26810"} is_a: MONDO:0004867 {source="DOID:786"} ! upper respiratory tract disorder property_value: exactMatch DOID:786 property_value: exactMatch http://identifiers.org/mesh/D007818 property_value: exactMatch http://identifiers.org/snomedct/60600009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023051 property_value: exactMatch NCIT:C26810 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009674 name: lens disease def: "A disease involving the lens of camera-type eye." [https://orcid.org/0000-0002-6601-2165] def: "A disease involving the lens of camera-type eye. [database_cross_reference: MONDO:DesignPattern]" [] comment: Includes cataracts, lens subluxation and aphakia synonym: "disease of lens of camera-type eye" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of lens of camera-type eye" EXACT [] synonym: "disorder of lens of camera-type eye" EXACT [MONDO:patterns/location_top] synonym: "lens disorder" EXACT [NCIT:C26812] synonym: "lens disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "lens of camera-type eye disease" EXACT [MONDO:patterns/location] synonym: "lens of camera-type eye disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:110 {source="MONDO:equivalentTo"} xref: ICD10:H27 xref: ICD10CM:H25-H28 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="DOID:110", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:379.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D007905 {source="MONDO:equivalentTo", source="DOID:110"} xref: MONDO:0001176 xref: NCIT:C26812 {source="MONDO:equivalentTo", source="DOID:110"} xref: SCTID:10810001 {source="MONDO:equivalentTo", source="DOID:110"} xref: UMLS:C0023308 {source="MONDO:equivalentTo", source="DOID:110", source="NCIT:C26812"} is_a: EFO:0003966 {source="DOID:110", source="MESH:D007905", source="MONDO:Redundant", source="NCIT:C26812"} ! eye disease property_value: exactMatch DOID:110 property_value: exactMatch http://identifiers.org/mesh/D007905 property_value: exactMatch http://identifiers.org/snomedct/10810001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023308 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H25-H28 property_value: exactMatch NCIT:C26812 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009675 name: melanocytic nevus def: "A neoplasm composed of melanocytes that usually appears as a dark spot on the skin." [NCIT:C7570] synonym: "melanocytic Nevus" EXACT [NCIT:C7570] synonym: "melanocytic nevus" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "melanocytic nevus" EXACT [] {comment="preferred label from MONDO"} synonym: "melanotic Nevus" EXACT [NCIT:C7570] synonym: "mole" EXACT [NCIT:C7570] synonym: "mole of skin" EXACT [NCIT:C7570] synonym: "nevus" EXACT [NCIT:C7570] xref: COHD:4271013 {source="MONDO:equivalentTo"} xref: EFO:0000625 {source="MONDO:equivalentTo"} xref: MedDRA:10027806 xref: MESH:D009506 {source="MONDO:equivalentTo", source="EFO:0000625"} xref: MONDO:0005073 xref: NCIT:C7570 {source="MONDO:equivalentTo"} xref: SCTID:400096001 {source="MONDO:equivalentTo"} xref: Wikipedia:Nevus {source="EFO:0000625"} is_a: EFO:0000625 ! nevus is_a: MONDO:0021440 ! benign neoplasm of skin is_a: MONDO:0021583 ! melanocytic skin neoplasm property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0027960 property_value: exactMatch http://identifiers.org/mesh/D009506 property_value: exactMatch http://identifiers.org/mesh/D009506 property_value: exactMatch http://identifiers.org/snomedct/400096001 property_value: exactMatch http://identifiers.org/snomedct/400096001 property_value: exactMatch NCIT:C7570 property_value: exactMatch NCIT:C7570 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009676 name: musculoskeletal system disease def: "A disease involving the musculoskeletal system." [https://orcid.org/0000-0002-6601-2165] def: "A disease involving the musculoskeletal system. [database_cross_reference: MONDO:DesignPattern]" [] subset: rare_grouping synonym: "disease of musculoskeletal system" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of musculoskeletal system" EXACT [] synonym: "disorder of musculoskeletal system" EXACT [MONDO:patterns/location_top] synonym: "musculoskeletal disease" EXACT [DOID:17] synonym: "musculoskeletal disorder" RELATED [] synonym: "musculoskeletal system disease" EXACT [MONDO:patterns/location] synonym: "musculoskeletal system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "musculoskeletal system disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "musculoskeletal system disorder" EXACT [NCIT:C107377] xref: DOID:17 {source="MONDO:equivalentTo"} xref: ICD10:M53 xref: ICD10:M95 xref: ICD10:M96 xref: ICD9:729.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D009140 {source="MONDO:equivalentTo", source="DOID:17"} xref: MONDO:0002081 xref: NCIT:C107377 {source="MONDO:equivalentTo", source="DOID:17"} xref: SCTID:928000 {source="MONDO:equivalentTo", source="DOID:17"} xref: UMLS:C0026857 {source="MONDO:equivalentTo", source="DOID:17"} is_a: EFO:0000408 ! disease property_value: exactMatch DOID:17 property_value: exactMatch http://identifiers.org/mesh/D009140 property_value: exactMatch http://identifiers.org/snomedct/928000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026857 property_value: exactMatch NCIT:C107377 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009677 name: occlusion precerebral artery def: "Occlusion of a precerebral artery." [] synonym: "occlusion and stenosis of multiple and bilateral precerebral arteries" RELATED [DOID:5976] synonym: "occlusion and stenosis of precerebral artery" RELATED [DOID:5976] synonym: "occlusion precerebral artery" EXACT [] {comment="preferred label from MONDO"} xref: DOID:5976 {source="MONDO:equivalentTo"} xref: ICD10:I65 xref: ICD9:433 {source="DOID:5976"} xref: ICD9:433.3 {source="DOID:5976"} xref: ICD9:433.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:433.81 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:433.9 {source="DOID:5976"} xref: MONDO:0003718 xref: SCTID:28790007 {source="MONDO:equivalentTo"} xref: UMLS:C0265090 {source="MONDO:equivalentTo"} is_a: EFO:0003763 {source="DOID:5976"} ! cerebrovascular disorder property_value: exactMatch DOID:5976 property_value: exactMatch http://identifiers.org/snomedct/28790007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265090 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009678 name: paralytic strabismus def: "An ocular deviation caused by a palsy to one or more of the extraocular muscles or nerves supplying them. [database_cross_reference: ORCID:0000-0003-0986-4123][database_cross_reference: ORCID:0000-0003-0986-4123]" [] synonym: "incomitant dissociation" EXACT [DOID:10863] synonym: "paralytic squint" EXACT DEPRECATED [DOID:10863] synonym: "paralytic strabismus" EXACT [] {comment="preferred label from MONDO"} xref: DOID:10863 {source="MONDO:equivalentTo"} xref: HP:0031775 xref: ICD10:H49 xref: ICD9:378.5 {source="DOID:10863"} xref: ICD9:378.50 {source="DOID:10863", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10033844 xref: MedDRA:10033845 xref: MONDO:0001143 xref: SCTID:400942002 {source="DOID:10863", source="MONDO:equivalentTo"} xref: UMLS:C0152221 {source="DOID:10863", source="MONDO:equivalentTo"} is_a: EFO:1001990 ! ocular motility disease property_value: exactMatch DOID:10863 property_value: exactMatch http://identifiers.org/snomedct/400942002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152221 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009679 name: paraplegia def: "Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord." [NCIT:P378] def: "Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord. [database_cross_reference: NCIt:P378]" [] subset: gard_rare {source="GARD:0007327"} synonym: "paraplegia" EXACT [] {comment="preferred label from MONDO"} synonym: "paraplegia, lower" EXACT [DOID:607] synonym: "severe or complete loss of motor function in the lower extremities and lower portions of the trunk" RELATED [GARD:0007327] xref: DOID:607 {source="MONDO:equivalentTo"} xref: ICD10:G82 xref: ICD9:344.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:607"} xref: MedDRA:10033892 xref: MESH:D010264 {source="MONDO:equivalentTo", source="DOID:607"} xref: MONDO:0003757 xref: NCIT:C50687 {source="MONDO:equivalentTo", source="DOID:607"} xref: SCTID:60389000 {source="MONDO:equivalentTo", source="DOID:607"} xref: UMLS:C0030486 {source="NCIT:C50687", source="MONDO:equivalentTo", source="DOID:607"} is_a: EFO:1000631 {source="MESH:D010264"} ! palsy property_value: exactMatch DOID:607 property_value: exactMatch http://identifiers.org/mesh/D010264 property_value: exactMatch http://identifiers.org/snomedct/60389000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030486 property_value: exactMatch NCIT:C50687 property_value: excluded_subClassOf MONDO:0002602 {source="DOID:607"} property_value: gwas:trait "true" xsd:boolean property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7327/paraplegia xsd:anyURI {source="GARD:0007327"} [Term] id: EFO:0009680 name: pleural empyema def: "The presence of pus in the thoracic cavity, between the visceral and parietal pleura." [NCIT:P378] def: "The presence of pus in the thoracic cavity, between the visceral and parietal pleura. [database_cross_reference: NCIt:P378]" [] subset: ordo_clinical_situation {source="Orphanet:449266"} synonym: "abscess of pleural cavity" EXACT [DOID:3798] synonym: "abscess of thorax" RELATED [DOID:3798] synonym: "empyema" RELATED [DOID:3798] synonym: "empyema of pleura" EXACT [DOID:3798] synonym: "pleural empyema" EXACT [] {comment="preferred label from MONDO"} synonym: "pleural empyema" EXACT [MONDO:ambiguous] synonym: "pleural empyema (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "purulent pleurisy" RELATED [DOID:3798] synonym: "purulent pleuritis" RELATED [DOID:3798] synonym: "Pyothorax" EXACT [] synonym: "pyothorax" RELATED [DOID:3798] synonym: "thorax abscess" RELATED [DOID:3798] xref: DOID:3798 {source="MONDO:equivalentTo"} xref: HP:0011919 {source="MONDO:otherHierarchy"} xref: ICD10:J86 xref: MESH:D016724 {source="MONDO:equivalentTo", source="DOID:3798"} xref: MONDO:0018667 xref: Orphanet:449266 {source="MONDO:equivalentTo"} xref: SCTID:405950009 {source="MONDO:equivalentTo", source="DOID:3798"} is_a: MONDO:0002037 {source="DOID:3798"} ! pleural disorder property_value: exactMatch DOID:3798 property_value: exactMatch http://identifiers.org/mesh/D016724 property_value: exactMatch http://identifiers.org/snomedct/405950009 property_value: exactMatch Orphanet:449266 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000589 "pleural empyema (disease)" xsd:string [Term] id: EFO:0009681 name: post term pregnancy def: "A gestation that lasts greater than or equal to 42 weeks and 0 days. [def-source: NCI][attr: NICHD]" [] synonym: "post-term pregnancy" EXACT [] synonym: "postterm pregnancy" EXACT [] synonym: "prolonged pregnancy" EXACT [] xref: ICD10:O48 xref: NCIt:C112851 is_a: EFO:0009682 ! pregnancy disorder property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009682 name: pregnancy disorder def: "A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor." [NCIT:C35169] def: "A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor. [database_cross_reference: NCIt:C35169]" [] synonym: "complication of pregnancy or childbirth" EXACT [] synonym: "complication, pregnancy" RELATED [MESH:D011248] synonym: "Complications, pregnancy" RELATED [MESH:D011248] synonym: "disorder of pregnancy" EXACT [NCIT:C35169] synonym: "disorder of pregnancy, childbirth, or puerperium" EXACT [] synonym: "pregnancy complication" RELATED [MESH:D011248] synonym: "pregnancy disease" EXACT [] synonym: "pregnancy disorder" EXACT [NCIT:C35169] synonym: "pregnancy disorder" EXACT [] {comment="preferred label from MONDO"} xref: ICD10:O02 xref: ICD10:O26 xref: ICD10:O32 xref: ICD10:O33 xref: ICD10:O34 xref: ICD10:O35 xref: ICD10:O36 xref: ICD10:O63 xref: ICD10:O71 xref: ICD10:O99 xref: MedDRA:10036558 xref: MESH:D011248 {source="MONDO:equivalentTo"} xref: MONDO:0024575 xref: NCIT:C35169 {source="MONDO:equivalentTo"} xref: NCIt:C35169 xref: SCTID:173300003 {source="MONDO:equivalentTo"} is_a: MONDO:0700003 {source="https://github.com/monarch-initiative/mondo/issues/3161", source="https://orcid.org/0000-0002-4142-7153"} ! obstetric disorder property_value: exactMatch http://identifiers.org/mesh/D011248 property_value: exactMatch http://identifiers.org/snomedct/173300003 property_value: exactMatch NCIT:C35169 property_value: excluded_subClassOf MONDO:0000001 {source="https://github.com/monarch-initiative/mondo/issues/652"} property_value: excluded_subClassOf MONDO:0002263 {source="NCIT:C35169"} property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009683 name: puerperal disorder def: "Disorders or diseases associated with puerperium, the six-to-eight-week period immediately after parturition in humans." [MESH:D011644] def: "Disorders or diseases associated with puerperium, the six-to-eight-week period immediately after parturition in humans. [database_cross_reference: MeSH:D011644]" [] synonym: "disorder of puerperium" EXACT [] synonym: "disorder, puerperal" RELATED [MESH:D011644] synonym: "disorders, puerperal" RELATED [MESH:D011644] synonym: "postpartum disorder" RELATED [] synonym: "puerperal disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "puerperal disorder" EXACT [MESH:D011644] xref: ICD10:O89 xref: ICD10:O90 xref: MESH:D011644 {source="MONDO:equivalentTo"} xref: MeSH:D011644 xref: MONDO:0044013 xref: SCTID:362973001 {source="MONDO:equivalentTo"} xref: UMLS:C0034040 {source="MONDO:equivalentTo"} is_a: MONDO:0700003 {source="https://github.com/monarch-initiative/mondo/issues/3161", source="https://orcid.org/0000-0002-4142-7153"} ! obstetric disorder property_value: exactMatch http://identifiers.org/mesh/D011644 property_value: exactMatch http://identifiers.org/snomedct/362973001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034040 property_value: excluded_subClassOf MONDO:0000001 {source="https://github.com/monarch-initiative/mondo/issues/652"} property_value: excluded_subClassOf MONDO:0024575 {source="MESH:D011644"} [Term] id: EFO:0009684 name: quadriplegia def: "Paralysis of all four limbs." [NCIT:P378] def: "Paralysis of all four limbs. [database_cross_reference: NCIt:P378]" [] synonym: "bilateral diplegia" EXACT [NCIT:C50721] synonym: "quadriplegia" EXACT [] {comment="preferred label from MONDO"} synonym: "tetraplegia" EXACT [DOID:12835] xref: DOID:12835 {source="MONDO:equivalentTo"} xref: ICD10:G82 xref: ICD9:344.00 {source="DOID:12835", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:344.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10037714 xref: MedDRA:10037719 xref: MESH:D011782 {source="DOID:12835", source="MONDO:equivalentTo"} xref: MONDO:0001590 xref: NCIT:C50721 {source="DOID:12835", source="MONDO:equivalentTo"} xref: SCTID:11538006 {source="DOID:12835", source="MONDO:equivalentTo"} xref: UMLS:C0034372 {source="NCIT:C50721", source="DOID:12835", source="MONDO:equivalentTo"} is_a: EFO:1000631 {source="https://github.com/monarch-initiative/mondo/issues/622"} ! palsy property_value: exactMatch DOID:12835 property_value: exactMatch http://identifiers.org/mesh/D011782 property_value: exactMatch http://identifiers.org/snomedct/11538006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034372 property_value: exactMatch NCIT:C50721 property_value: excluded_subClassOf MONDO:0002602 {source="DOID:12835"} property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009685 name: rectal disease def: "A disease that involves the rectum." [MONDO:patterns/location] def: "A disease that involves the rectum. [database_cross_reference: MONDO:patterns/location]" [] synonym: "disease of rectum" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of rectum" EXACT [] synonym: "disorder of rectum" EXACT [MONDO:patterns/location_top] synonym: "rectal disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "rectum disease" EXACT [MONDO:patterns/location] synonym: "rectum disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:1285 {source="MONDO:equivalentTo"} xref: ICD10:K62 xref: ICD9:569.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D012002 {source="DOID:1285", source="MONDO:equivalentTo"} xref: MONDO:0001593 xref: SCTID:5964004 {source="DOID:1285", source="MONDO:equivalentTo"} xref: UMLS:C0034882 {source="DOID:1285", source="MONDO:equivalentTo"} is_a: MONDO:0024634 ! large intestine disorder property_value: exactMatch DOID:1285 property_value: exactMatch http://identifiers.org/mesh/D012002 property_value: exactMatch http://identifiers.org/snomedct/5964004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034882 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009686 name: respiratory failure def: "The significant impairment of gas exchange within the lungs resulting in hypoxia, hypercarbia, or both, to the extent that organ tissue perfusion is severely compromised. Causes include chronic obstructive pulmonary disease, asthma, emphysema, acute respiratory distress syndrome, pneumonia, pulmonary edema, pneumothorax, and congestive heart failure. Treatment requires intubation and mechanical ventilation until the time the lungs recover sufficient function." [NCIT:C26872] def: "The significant impairment of gas exchange within the lungs resulting in hypoxia, hypercarbia, or both, to the extent that organ tissue perfusion is severely compromised. Causes include chronic obstructive pulmonary disease, asthma, emphysema, acute respiratory distress syndrome, pneumonia, pulmonary edema, pneumothorax, and congestive heart failure. Treatment requires intubation and mechanical ventilation until the time the lungs recover sufficient function. [NCIt:C26872]" [] synonym: "acute and chronic respiratory failure" RELATED [DOID:11162, ICD9CM:518.84] synonym: "acute respiratory failure" NARROW [DOID:11162, NCIT:C27043] synonym: "acute-on-chronic respiratory failure" RELATED [DOID:11162] synonym: "chronic respiratory failure" NARROW [DOID:11162] synonym: "failure, respiratory" EXACT [NCIT:C26872] synonym: "respiratory failure" EXACT [NCIT:C26872] synonym: "respiratory failure" EXACT [] {comment="preferred label from MONDO"} synonym: "respiratory insufficiency/failure" EXACT [DOID:11162] xref: DOID:11162 {source="MONDO:equivalentTo"} xref: ICD10:J96 xref: ICD9:518.81 {source="DOID:11162"} xref: ICD9:518.83 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10038695 xref: MESH:D012131 {source="MONDO:equivalentTo"} xref: MONDO:0021113 xref: NCIT:C26872 {source="MONDO:equivalentTo"} xref: NCIt:C26872 xref: SCTID:39871006 {source="MONDO:equivalentTo"} xref: UMLS:C1145670 {source="NCIT:C26872", source="MONDO:equivalentTo"} is_a: EFO:0003818 {source="DOID:11162", source="MONDO:Entailed", source="NCIT:C26872/inferred"} ! lung disease property_value: exactMatch DOID:11162 property_value: exactMatch http://identifiers.org/mesh/D012131 property_value: exactMatch http://identifiers.org/snomedct/39871006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1145670 property_value: exactMatch NCIT:C26872 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009687 name: somatoform disorder def: "A category of psychiatric disorders which are characterized by the presence of physical symptoms that suggest a medical condition but are not fully explained by any known medical reasons." [NCIT:C34956] def: "A category of psychiatric disorders which are characterized by the presence of physical symptoms that suggest a medical condition but are not fully explained by any known medical reasons. [database_cross_reference: NCIt:C34956]" [] synonym: "physiological malfunction arising from mental factor" RELATED [DOID:4737] synonym: "psychophysiologic disorder" RELATED [DOID:4737] synonym: "psychosomatic disorder" RELATED [DOID:4737] synonym: "somatoform disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "somatoform disorder" EXACT [NCIT:C34956] xref: DOID:4737 {source="MONDO:equivalentTo"} xref: ICD10:F45 xref: ICD9:300.8 {source="DOID:4737"} xref: ICD9:300.81 {source="DOID:4737"} xref: ICD9:306.8 {source="DOID:4737"} xref: MedDRA:10054153 xref: MESH:D013001 {source="MONDO:equivalentTo", source="DOID:4737"} xref: MONDO:0003117 xref: NCIT:C34956 {source="MONDO:equivalentTo", source="DOID:4737"} xref: NCIt:C34956 xref: SCTID:31297008 {source="MONDO:equivalentTo", source="DOID:4737"} is_a: EFO:0000677 ! mental or behavioural disorder is_a: MONDO:0002025 {source="DOID:4737", source="MESH:D013001", source="NCIT:C34956"} ! psychiatric disorder property_value: exactMatch DOID:4737 property_value: exactMatch http://identifiers.org/mesh/D013001 property_value: exactMatch http://identifiers.org/snomedct/31297008 property_value: exactMatch NCIT:C34956 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009688 name: stomatitis def: "Inflammation of the oral mucosa due to local or systemic factors." [NCIT:P378] def: "Inflammation of the oral mucosa due to local or systemic factors. [database_cross_reference: NCIt:P378]" [] synonym: "inflammation of mouth mucosa" EXACT [] synonym: "mouth mucosa inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "mucositis oral" EXACT [NCIT:C26887] synonym: "oral mucositis" EXACT [NCIT:C26887] synonym: "stomatitis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:9637 {source="MONDO:equivalentTo"} xref: EFO:1001904 {source="MONDO:equivalentTo"} xref: ICD10:K12 xref: ICD9:528.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:528.00 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10042128 xref: MESH:D013280 {source="DOID:9637", source="MONDO:equivalentTo"} xref: MONDO:0004842 xref: NCIT:C26887 {source="DOID:9637", source="MONDO:equivalentTo"} xref: SCTID:61170000 {source="DOID:9637", source="MONDO:equivalentTo"} xref: UMLS:C0038362 {source="DOID:9637", source="MONDO:equivalentTo"} xref: UMLS:C1568868 {source="MONDO:equivalentTo", source="NCIT:C26887"} is_a: EFO:0009903 ! inflammatory disease is_a: MONDO:0044992 ! mouth mucosa disorder property_value: exactMatch DOID:9637 property_value: exactMatch http://identifiers.org/mesh/D013280 property_value: exactMatch http://identifiers.org/snomedct/61170000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038362 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1568868 property_value: exactMatch NCIT:C26887 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009689 name: urethral disease def: "A disease involving the urethra." [https://orcid.org/0000-0002-6601-2165] def: "A disease involving the urethra. [database_cross_reference: MONDO:DesignPattern]" [] synonym: "disease of urethra" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of urethra" EXACT [] synonym: "disorder of urethra" EXACT [MONDO:patterns/location_top] synonym: "urethra disease" EXACT [DOID:732, MONDO:patterns/location, NCIT:C26903] synonym: "urethra disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "urethra disorder" EXACT [NCIT:C26903] synonym: "urethral disorder" EXACT [] {comment="preferred label from MONDO"} xref: DOID:732 {source="MONDO:equivalentTo"} xref: ICD10:N36 xref: MESH:D014522 {source="DOID:732", source="MONDO:equivalentTo"} xref: MONDO:0004184 xref: NCIT:C26903 {source="DOID:732", source="MONDO:equivalentTo"} xref: SCTID:4985009 {source="DOID:732", source="MONDO:equivalentTo"} xref: UMLS:C0041969 {source="DOID:732", source="MONDO:equivalentTo", source="NCIT:C26903"} is_a: EFO:0009690 {source="DOID:732", source="MESH:D014522", source="MONDO:Redundant", source="NCIT:C26903"} ! urinary system disease property_value: exactMatch DOID:732 property_value: exactMatch http://identifiers.org/mesh/D014522 property_value: exactMatch http://identifiers.org/snomedct/4985009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041969 property_value: exactMatch NCIT:C26903 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009690 name: urinary system disease def: "A disease involving the renal system." [https://orcid.org/0000-0002-6601-2165] def: "A disease involving the renal system. [database_cross_reference: MONDO:DesignPattern]" [] subset: rare_grouping synonym: "disease of renal system" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of renal system" EXACT [] synonym: "disease, urinary tract" EXACT [MESH:D014570] synonym: "disease, urologic" EXACT [MESH:D014570] synonym: "disease, urological" EXACT [MESH:D014570] synonym: "diseases, urinary tract" EXACT [MESH:D014570] synonym: "diseases, urologic" EXACT [MESH:D014570] synonym: "diseases, urological" EXACT [MESH:D014570] synonym: "disorder of renal system" EXACT [MONDO:patterns/location_top] synonym: "disorder of the urinary system" EXACT [] synonym: "disorder of urinary system" EXACT [NCIT:C3430] synonym: "non-neoplastic urinary tract disease" EXACT [DOID:18, NCIT:C27599] synonym: "renal system disease" EXACT [MONDO:patterns/location] synonym: "renal system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "urinary disease" EXACT [DOID:18] synonym: "urinary system disease" EXACT [] synonym: "urinary system disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "urinary tract disease" EXACT [DOID:18, MESH:D014570] synonym: "urinary tract diseases" EXACT [MESH:D014570] synonym: "urinary tract disorder" EXACT [NCIT:C3430] synonym: "urologic disease" EXACT [MESH:D014570] synonym: "urologic disorder" EXACT [NCIT:C3430] synonym: "urological disease" EXACT [MESH:D014570] synonym: "urological diseases" EXACT [MESH:D014570] synonym: "urological disorder" EXACT [] synonym: "urological disorders" EXACT [NCIT:C3430] xref: DOID:18 {source="MONDO:equivalentTo"} xref: ICD10:N28 xref: ICD10:N39 xref: ICD9:V47.4 {source="MONDO:RelatedTo", source="MONDO:i2s"} xref: MESH:D014570 {source="MONDO:equivalentTo"} xref: MONDO:0002118 xref: NCIT:C3430 {source="MONDO:equivalentTo"} xref: SCTID:128606002 {source="MONDO:equivalentTo"} xref: UMLS:C1335051 {source="MONDO:equivalentTo", source="DOID:18"} is_a: EFO:0000408 ! disease property_value: exactMatch DOID:18 property_value: exactMatch http://identifiers.org/mesh/D014570 property_value: exactMatch http://identifiers.org/snomedct/128606002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335051 property_value: exactMatch NCIT:C3430 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009691 name: vestibular disease def: "Pathological processes of the vestibular labyrinth which contains part of the balancing apparatus. Patients with vestibular diseases show instability and are at risk of frequent falls." [MESH:D015837] def: "Pathological processes of the vestibular labyrinth which contains part of the balancing apparatus. Patients with vestibular diseases show instability and are at risk of frequent falls. [database_cross_reference: MeSH:D015837]" [] synonym: "disease of vestibular labyrinth" EXACT [MONDO:design_pattern, MONDO:patterns/location_top] synonym: "disease of vestibular system" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of vestibular labyrinth" EXACT [] synonym: "disorder of vestibular labyrinth" EXACT [MONDO:design_pattern, MONDO:patterns/location_top] synonym: "disorder of vestibular system" RELATED [MONDO:patterns/location_top] synonym: "vertigo, vestibular disorder" EXACT [DOID:3426] synonym: "vestibular disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "vestibular labyrinth disease" EXACT [MONDO:design_pattern] synonym: "vestibular labyrinth disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "vestibular system disease" EXACT [MONDO:patterns/location] xref: DOID:3426 {source="MONDO:equivalentTo"} xref: ICD10:H81 xref: MESH:D015837 {source="MONDO:equivalentTo", source="DOID:3426"} xref: MeSH:D015837 xref: MONDO:0002643 xref: UMLS:C0042594 {source="MONDO:equivalentTo", source="DOID:3426"} is_a: EFO:0009672 {source="DOID:3426", source="MESH:D015837", source="MONDO:Redundant"} ! inner ear disease is_a: EFO:1001902 ! neuromuscular disease is_a: MONDO:0024417 ! perceptual disorders property_value: exactMatch DOID:3426 property_value: exactMatch http://identifiers.org/mesh/D015837 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042594 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009692 name: voice disorders def: "A pathologic process in the larynx that affects the production of speech. Causes include vocal cord paresis, vocal cord nodule, vocal cord polyp, and laryngitis." [NCIT:C3441] def: "A pathologic process in the larynx that affects the production of speech. Causes include vocal cord paresis, vocal cord nodule, vocal cord polyp, and laryngitis. [database_cross_reference: NCIt:C3441]" [] synonym: "neurologic dysphonia" RELATED [] synonym: "neurologic voice disorder" EXACT [] synonym: "voice disorder" EXACT [NCIT:C3441] synonym: "voice disorders" EXACT [] {comment="preferred label from MONDO"} xref: ICD10:R49 xref: MESH:D014832 {source="MONDO:equivalentTo"} xref: MONDO:0043862 xref: NCIT:C3441 {source="MONDO:equivalentTo"} xref: SCTID:71941009 {source="MONDO:equivalentTo"} is_a: EFO:0009673 {source="MESH:D014832", source="NCIT:C3441/inferred"} ! laryngeal disease property_value: definition:citation http://purl.obolibrary.org/obo/SYMP_0000559 xsd:string property_value: exactMatch http://identifiers.org/mesh/D014832 property_value: exactMatch http://identifiers.org/snomedct/71941009 property_value: exactMatch NCIT:C3441 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009693 name: thiopurine metabolite measurement def: "Quantification of the metabolites of thiopurine compounds." [] xref: PMID:30201983 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 CHEBI:35666 ! is_about thiopurine property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009694 name: beta-lactam allergy measurement def: "Quantification of the presence or severity of an allergy to beta-lactam, including beta-lactam antibiotics." [] xref: http://www.antimicrobe.org/e35.asp xref: PMID:25224099 is_a: EFO:0007008 ! allergy measurement relationship: IAO:0000136 CHEBI:35627 ! is_about beta-lactam relationship: IAO:0000136 MONDO:0005271 ! is_about allergic disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0009695 name: household income def: "A demographic parameter indicating the amount of earning made by a family." [] xref: NCIt:C70811 is_a: BFO:0000019 ! quality property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Maria Cerezo" xsd:string [Term] id: EFO:0009696 name: social deprivation def: "Absence of social environment which is necessary for the social development of the individual." [] is_a: BFO:0000019 ! quality property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Maria Cerezo" xsd:string [Term] id: EFO:0009697 name: pathological complete response def: "The disappearance of all signs of cancer, supported by pathological examination." [] xref: NCIt:C123603 is_a: EFO:0003765 ! sign or symptom property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009698 name: gestational blood glucose measurement def: "Quantification of glucose levels in the blood of a pregnant individual." [] xref: PMID:30324795 is_a: EFO:0004468 ! glucose measurement relationship: IAO:0000136 EFO:0002950 ! is_about pregnancy relationship: IAO:0000136 EFO:0004593 ! is_about gestational diabetes property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009699 name: foot muscle strength measurement def: "Quantification of foot muscle strength." [] xref: PMID:30706531 is_a: EFO:0004515 ! muscle measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009700 name: visual perception measurement def: "Quantification of some aspect of visual perception." [] xref: PMID:30242048 is_a: EFO:0004464 ! brain measurement relationship: IAO:0000136 GO:0007601 ! is_about visual perception property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009701 name: visceral:total adipose tissue ratio def: "Quantification of visceral to total adipose tissue." [] xref: PMID:30363675 is_a: EFO:0004764 ! adipose tissue measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Maria Cerezo" xsd:string [Term] id: EFO:0009702 name: intra-individual reaction time variability measurement def: "Quantification of the variability in reaction time (the interval of time between the presentation of a stimulus to a subject and the beginning of the subject's response to that stimulus) of an individual, over successive tasks. An increase in intra-individual reaction time variability is a hallmark of neurocogintive disturbance in many neurological and psychiatric disorders, particularly ADHD." [] synonym: "IIRTV measurement" EXACT [] synonym: "intra-individual response time variability measurement" EXACT [] xref: PMID:30287865 is_a: EFO:0008354 ! cognitive function measurement relationship: IAO:0000136 EFO:0003925 ! is_about cognition property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009703 name: red blood cell folate measurement def: "The determination of the concentration of folic acid present in a sample of red blood cells." [] synonym: "RBC Folate" EXACT [] synonym: "RBC Folate Status" EXACT [] synonym: "RBC Folic Acid" EXACT [] synonym: "Red Blood Cell Folate" EXACT [] synonym: "Red Blood Cell Folate Measurement" EXACT [] synonym: "Red Blood Cell Folate Status" EXACT [] synonym: "Red Cell Folate" EXACT [] xref: PMID:30339177 is_a: EFO:0005111 ! folic acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Maria Cerezo" xsd:string [Term] id: EFO:0009704 name: radiation-induced brain injury def: "An injury to the brain which results results from exposure to radiation." [] is_a: EFO:0009386 ! central nervous system disease is_a: EFO:0009565 ! radiation-induced disorder property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009705 name: small intestine enteropathy def: "A disease of the small intestine." [] synonym: "small bowel enteropathy" EXACT [] is_a: EFO:0000405 ! digestive system disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009706 name: latent autoimmune diabetes in adults def: "Latent autoimmune diabetes in adults (LADA) is a form of diabetes mellitus type 1 that occurs in adulthood, often with a slower course of onset than type 1 diabetes diagnosed in juveniles." [] synonym: "LADA" EXACT [] xref: MedDRA:10066389 xref: Wikipedia:Latent_autoimmune_diabetes_in_adults is_a: EFO:0005140 ! autoimmune disease is_a: MONDO:0005147 ! type 1 diabetes mellitus property_value: definition:citation PMID:30254083 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009707 name: fractures, ununited def: "Delayed union due to failure of healing following a skeletal fracture." [] synonym: "Nonunion" EXACT [] is_a: EFO:0003931 ! bone fracture property_value: definition:citation PMID:30680360 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009708 name: metastasis def: "The spread or migration of cancer cells from one part of the body (where they first appeared) to another. The secondary tumor contains cells that are like those in the original (primary) tumor. [ NCI ]" [] synonym: "cancer metastasis" EXACT [] synonym: "neoplasm metastasis" EXACT [] synonym: "tumor cell migration" EXACT [] synonym: "tumor metastasis" EXACT [] xref: MedDRA:10062194 xref: MeSH:D009362 xref: NCIt:C19151 is_a: OBI:1110122 ! pathologic process property_value: IAO:0000116 "A tumor formed by cells that have spread is referred to as a \"metastatic tumor\" or a \"metastasis\", but, strictly speaking, “metastasis” refers to the process of cancer cell migration, not to the tumor mass itself." xsd:string [Term] id: EFO:0009709 name: metastatic neoplasm def: "A tumor that has spread from its original (primary) site of growth to another site, close to or distant from the primary site. Metastasis is characteristic of advanced malignancies, but in rare instances can be seen in neoplasms lacking malignant morphology." [NCIT:C3261] comment: Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future. synonym: "metastatic disease" EXACT [NCIT:C3261] synonym: "metastatic neoplasm" EXACT [NCIT:C3261] synonym: "metastatic neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "metastatic neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "metastatic tumor" EXACT [NCIT:C3261] synonym: "metastatic tumour" EXACT OMO:0003005 [] xref: ICDO:8000/6 {source="NCIT:C3261"} xref: MONDO:0024883 xref: NCIT:C3261 {source="MONDO:equivalentTo"} is_a: MONDO:0024882 ! secondary neoplasm property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2939420 property_value: exactMatch NCIT:C3261 property_value: exactMatch NCIT:C3261 [Term] id: EFO:0009710 name: micrometastasis def: "Small number of cancer cells that have spread from a primary tumor to other parts of the body and are too few to be picked up in a screening or diagnostic test, and are identifiable only under a microscope. [ NCI ]" [] synonym: "neoplasm micrometastasis" EXACT [] xref: NCIt:C38486 is_a: EFO:0009709 ! metastatic neoplasm property_value: IAO:0000116 "A tumor formed by cells that have spread is referred to as a \"metastatic tumor\" or a \"metastasis\", but, strictly speaking, “metastasis” refers to the process of cancer cell migration, not to the tumor mass itself." xsd:string [Term] id: EFO:0009711 name: Townsend deprivation index def: "A measure of material deprivation. It incorporates four variables: unemployment, non-car ownership, non-home ownership and household overcrowding." [] xref: Wikipedia:Townsend_deprivation_index is_a: BFO:0000019 ! quality property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009712 name: father's age at death def: "The age of a person's father at which father's death occurred." [] is_a: EFO:0000246 ! age property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009713 name: number of siblings def: "An individual's total number of brothers and sisters. [ NCI ]" [] xref: NCIt:C102469 is_a: EFO:0001444 ! measurement [Term] id: EFO:0009714 name: chronic disease def: "A disease persisting for a long time or constantly recurring." [] is_a: EFO:0000408 ! disease intersection_of: EFO:0000408 ! disease intersection_of: has_modifier HP:0011010 ! Chronic property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009715 name: wheezing def: "A symptom and a finding during physical examination, characterized by a high-pitched, whistling sound during breathing. It results from the narrowing or obstruction of the respiratory airways. The most common causes of wheezing are asthma, chronic obstructive pulmonary disease, tracheobronchitis, and pulmonary edema. [ NCI ]" [] xref: MedDRA:10047924 xref: NCIt:C78718 is_a: EFO:0003765 ! sign or symptom property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009716 name: age at first facial hair def: "The age of onset of first facial hair." [] is_a: EFO:0000246 ! age property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009717 name: bilateral oophorectomy def: "Surgery to remove both ovaries. [ NCI ]" [] xref: NCIt:C51590 is_a: EFO:0002571 ! medical procedure property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009718 name: peak expiratory flow def: "The maximum rate of gas flow, beginning at the point of peak inspiratory capacity, that can be sustained during forced exhalation for a defined period of time." [] def: "The maximum rate of gas flow, beginning at the point of peak inspiratory capacity, that can be sustained during forced exhalation for a defined period of time. This test is most often used in combination with other studies of lung function to diagnose and monitor obstructive and restrictive lung disease(s). [ NCI ]" [] synonym: "PEF" EXACT [] xref: NCIt:C41372 xref: PMID:30804560 is_a: EFO:0000720 ! test result is_a: EFO:0003892 ! pulmonary function measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Maria Cerezo" xsd:string [Term] id: EFO:0009719 name: artificial cardiac pacemaker def: "A medical device that generates electrical impulses delivered by electrodes to contract the heart muscles and regulate the electrical conduction system of the heart." [] synonym: "artificial pacemaker" EXACT [] synonym: "pacemaker" EXACT [] xref: NCIt:C94198 xref: Wikipedia:Artificial_cardiac_pacemaker is_a: EFO:0002571 ! medical procedure property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009720 name: able to hear with hearing aids def: "A measurement indicating ability of an individual to hear what was said with hearing aids." [] xref: NCIt:C156149 is_a: EFO:0007616 ! hearing measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009721 name: mother's age at death def: "The age of a person's mother at which mother's death occurred." [] is_a: EFO:0000246 ! age property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009722 name: number of stillbirths def: "A measurement of the total number of birth events at which the fetus is of at least 20 weeks gestation, or of a birth weight of at least 350 grams if the gestational age is unknown, which is born without signs of life at the time of delivery, and with an Apgar score of zero at both one and five minutes. [ NCI ]" [] xref: NCIt:C139267 is_a: EFO:0001444 ! measurement [Term] id: EFO:0009723 name: job satisfaction measurement def: "Quantification of job satisfaction." [] synonym: "work satisfaction" EXACT [] xref: http://purl.obolibrary.org/obo/OMIT_0008700 is_a: EFO:0007869 ! wellbeing measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009724 name: health satisfaction measurement def: "Quantification of health satisfaction." [] is_a: EFO:0007869 ! wellbeing measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009725 name: friendship satisfaction measurement def: "Quantification of friendship satisfaction." [] is_a: EFO:0007869 ! wellbeing measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009726 name: financial situation satisfaction measurement def: "Quantification of satisfaction with financial situation." [] xref: NCIt:C121821 is_a: EFO:0007869 ! wellbeing measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009727 name: shortness of breath def: "A difficulty in breathing." [] xref: MedDRA:10040604 xref: NCIt:C99773 is_a: EFO:0003765 ! sign or symptom property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009728 name: cochlear implant def: "A surgically implanted neuroprosthetic device that provides a sense of sound to a person with severe to profound sensorineural hearing loss." [] xref: http://purl.obolibrary.org/obo/OMIT_0004364 xref: Wikipedia:Cochlear_implant is_a: EFO:0002571 ! medical procedure property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009729 name: surgery on leg artery def: "Surgical intervention performed on leg artery." [] is_a: EFO:0002571 ! medical procedure property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009730 name: polyarticular juvenile idiopathic arthritis def: "A form of juvenile idiopathic arthritis that affects multiple joints." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:404580"} synonym: "juvenile polyarthritis" EXACT [Orphanet:404580] synonym: "juvenile polyarticular arthritis" EXACT [Orphanet:404580] synonym: "polyarticular JIA" EXACT [Orphanet:404580] synonym: "polyarticular juvenile idiopathic arthritis" EXACT [] {comment="preferred label from MONDO"} xref: EFO:1002020 {source="MONDO:equivalentTo"} xref: MONDO:0018456 xref: Orphanet:404580 {source="MONDO:equivalentTo"} xref: SCTID:16044751000119106 {source="MONDO:equivalentTo"} is_a: EFO:0002609 {source="Orphanet:404580"} ! juvenile idiopathic arthritis property_value: exactMatch http://identifiers.org/snomedct/16044751000119106 property_value: exactMatch Orphanet:404580 [Term] id: EFO:0009731 name: polyarticular juvenile idiopathic arthritis, rheumatoid factor positive def: "A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with positive serologic testing for rheumatoid factor." [NCIT:C119034] def: "A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with positive serologic testing for rheumatoid factor. [ NCIt:C119034 ]" [] subset: ordo_disease {source="Orphanet:85435"} synonym: "juvenile idiopathic rheumatoid factor-positive polyarthritis" EXACT [Orphanet:85435] synonym: "polyarthritis with rheumatoid factor" EXACT [Orphanet:85435] synonym: "polyarticular JIA, RF+" EXACT [NCIT:C119034] synonym: "polyarticular juvenile idiopathic arthritis, RF+" EXACT [NCIT:C119034] synonym: "polyarticular juvenile idiopathic arthritis, rheumatoid Factor Positive" EXACT [NCIT:C119034] synonym: "rheumatoid factor-positive polyarticular JIA" EXACT [Orphanet:85435] synonym: "rheumatoid factor-positive polyarticular juvenile idiopathic arthritis" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0019435 xref: NCIT:C119034 {source="MONDO:equivalentTo"} xref: Orphanet:85435 {source="MONDO:equivalentTo"} xref: UMLS:C3890733 {source="NCIT:C119034", source="MONDO:equivalentTo"} is_a: EFO:0009730 {source="Orphanet:85435"} ! polyarticular juvenile idiopathic arthritis property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3890733 property_value: exactMatch NCIT:C119034 property_value: exactMatch Orphanet:85435 [Term] id: EFO:0009732 name: enthesitis-related juvenile idiopathic arthritis def: "Enthesitis-related juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and inflammation of an enthesitis site (the point at which a ligament, tendon, or joint capsule attaches to the bone). Signs and symptoms generally develop in late childhood or early adolescence and include pain, tenderness, and swelling in joints and at the enthesis. The knee and the back of the ankle (at the Achilles tendon) are the most commonly affected parts of the body. The underlying cause of enthesitis-related juvenile idiopathic arthritis is currently unknown (idiopathic). It is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a family member with juvenile arthritis or any autoimmune disease may increase the risk of having juvenile arthritis, in general. Treatment usually involves different types of medications to help manage symptoms and/or physical therapy." [https://rarediseases.info.nih.gov/diseases/10969/enthesitis-related-juvenile-idiopathic-arthritis] def: "Enthesitis-related juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and inflammation of an enthesitis site (the point at which a ligament, tendon, or joint capsule attaches to the bone). Signs and symptoms generally develop in late childhood or early adolescence and include pain, tenderness, and swelling in joints and at the enthesis. The knee and the back of the ankle (at the Achilles tendon) are the most commonly affected parts of the body. The underlying cause of enthesitis-related juvenile idiopathic arthritis is currently unknown (idiopathic). It is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a family member with juvenile arthritis or any autoimmune disease may increase the risk of having juvenile arthritis, in general. Treatment usually involves different types of medications to help manage symptoms and/or physical therapy. [ https://rarediseases.info.nih.gov/diseases/10969/enthesitis-related-juvenile-idiopathic-arthritis ]" [] subset: gard_rare {source="GARD:0010969"} subset: ordo_malformation_syndrome {source="Orphanet:85438"} synonym: "enthesitis related arthritis, juvenile" RELATED [GARD:0010969] synonym: "enthesitis-related arthritis" RELATED [GARD:0010969] synonym: "enthesitis-related JIA" EXACT [Orphanet:85438] synonym: "enthesitis-related juvenile idiopathic arthritis" EXACT [] {comment="preferred label from MONDO"} synonym: "era" EXACT [Orphanet:85438] synonym: "juvenile enthesitis-related arthritis" RELATED [GARD:0010969] synonym: "juvenile spondylarthropathy" RELATED [GARD:0010969] xref: MONDO:0019437 xref: NCIT:C119024 {source="MONDO:equivalentTo"} xref: Orphanet:85438 {source="MONDO:equivalentTo"} xref: PMID:14760812 xref: SCTID:410801005 {source="MONDO:equivalentTo"} is_a: EFO:0002609 {source="Orphanet:85438"} ! juvenile idiopathic arthritis relationship: disease_has_feature MONDO:0024419 ! enthesitis property_value: exactMatch http://identifiers.org/snomedct/410801005 property_value: exactMatch NCIT:C119024 property_value: exactMatch Orphanet:85438 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10969/enthesitis-related-juvenile-idiopathic-arthritis xsd:anyURI {source="GARD:0010969"} [Term] id: EFO:0009733 name: psoriasis-related juvenile idiopathic arthritis def: "A form of juvenile idiopathic arthritis that is related to psoriasis." [] def: "Childhood arthritis typically associated with psoriasis." [NCIT:P378] subset: ordo_disease {source="Orphanet:85436"} synonym: "JPsA" EXACT [NCIT:C114361] synonym: "juvenile psoriatic arthritis" EXACT [Orphanet:85436] synonym: "psoriasis-related JIA" EXACT [Orphanet:85436] synonym: "psoriasis-related juvenile idiopathic arthritis" EXACT [] {comment="preferred label from MONDO"} xref: ICD10EXP:L40.5+ {source="Orphanet:85436", source="Orphanet:85436/ntbt"} xref: ICD10EXP:M09.0* {source="Orphanet:85436", source="Orphanet:85436/ntbt"} xref: MONDO:0019436 xref: MONDO:0019437 xref: NCIT:C114361 {source="MONDO:equivalentTo"} xref: Orphanet:85436 {source="MONDO:equivalentTo"} xref: PMID:14760812 xref: SCTID:239802003 {source="MONDO:equivalentTo"} is_a: EFO:0002609 {source="Orphanet:85436"} ! juvenile idiopathic arthritis is_a: EFO:0003778 {source="NCIT:C114361"} ! psoriatic arthritis property_value: exactMatch http://identifiers.org/snomedct/239802003 property_value: exactMatch NCIT:C114361 property_value: exactMatch Orphanet:85436 [Term] id: EFO:0009734 name: unspecified juvenile idiopathic arthritis def: "Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes." [Orphanet:91140] def: "Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes. [ Orphanet:91140 ]" [] subset: ordo_disease {source="Orphanet:91140"} synonym: "unspecified JIA" EXACT [Orphanet:91140] synonym: "unspecified juvenile idiopathic arthritis" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0019607 xref: Orphanet:91140 {source="MONDO:equivalentTo"} xref: PMID:14760812 is_a: EFO:0002609 {source="Orphanet:91140"} ! juvenile idiopathic arthritis property_value: exactMatch Orphanet:91140 [Term] id: EFO:0009735 name: co-investigator def: "One of two or more scientists working together on a research project. A person that equally contributes to the preparation of the protocol, and shares the responsibilities of this position, including medical monitoring (particularly toxicity/safety), liaison with statisticians over analysis, and the generation of a report containing the results. [ NCI ]" [] xref: NCIt:C51812 is_a: EFO:0001739 ! investigator property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009736 name: principal investigator def: "The principal or lead person who carries out a formal inquiry or investigation." [] xref: NCIt:C19924 is_a: EFO:0001739 ! investigator property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009737 name: data curator def: "A person who organizes, integrates, and annotates data collected from various sources in order that the value of the data is maintained over time and the data remains available for reuse and preservation." [] xref: Wikipedia:Data_curation is_a: EFO:0001733 ! curator property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009738 name: pathologist def: "A person who studies the causes and effects of diseases, especially one who examines laboratory samples of body tissue for diagnostic or forensic purposes." [] xref: NCIt:C17723 is_a: BFO:0000023 ! role relationship: characteristic_of NCBITaxon:9606 ! Homo sapiens relationship: characteristic_of OBI:0000245 ! organization property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009739 name: technician def: "A person employed to look after technical equipment or do practical work in a laboratory." [] xref: NCIt:C17723 is_a: BFO:0000023 ! role relationship: characteristic_of OBI:0000245 ! organization relationship: RO:0000081 NCBITaxon:9606 ! role_of Homo sapiens property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009740 name: clinician def: "A doctor having direct contact with patients rather than being involved with theoretical or laboratory studies." [] xref: NCIt:C85499 is_a: BFO:0000023 ! role relationship: characteristic_of NCBITaxon:9606 ! Homo sapiens relationship: characteristic_of OBI:0000245 ! organization property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009741 name: experimental scientist def: "A scientist who performs experiments in a laboratory equipped with appropriate plumbing, ventilation, and equipment to allow for hands-on scientific research and experimentation." [] is_a: BFO:0000023 ! role relationship: characteristic_of NCBITaxon:9606 ! Homo sapiens relationship: characteristic_of OBI:0000245 ! organization property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009742 name: computational scientist def: "A scientist who performs experiments in a laboratory for making computer simulations or for data analysis especially by computers." [] is_a: BFO:0000023 ! role relationship: characteristic_of NCBITaxon:9606 ! Homo sapiens relationship: characteristic_of OBI:0000245 ! organization property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009743 name: administrator def: "A person responsible for carrying out the administration of a business or organization" [] is_a: BFO:0000023 ! role relationship: characteristic_of NCBITaxon:9606 ! Homo sapiens relationship: characteristic_of OBI:0000245 ! organization property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009744 name: surgical resection def: "Surgical removal of all or part of an organ, tissue, or structure." [] is_a: OBI:0600005 ! collecting specimen from organism property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009745 name: persistent oligoarticular juvenile idiopathic arthritis def: "Oligoarticular juvenile idiopathic arthritis affecting not more than 4 joints throughout the disease course." [] xref: PMID:14760812 is_a: EFO:1002019 ! oligoarticular juvenile idiopathic arthritis [Term] id: EFO:0009746 name: extended oligoarticular juvenile idiopathic arthritis def: "Oligoarticular juvenile idiopathic arthritis affecting a total of more than 4 joints after the first 6 months of disease." [] xref: PMID:14760812 is_a: EFO:1002019 ! oligoarticular juvenile idiopathic arthritis [Term] id: EFO:0009747 name: GM25256 def: "Induced pluripotent stem cell line derived from adult skin (leg) fibroblasts; subject clinically normal; wild-type; FISH test: 46, XY." [] synonym: "WTC-11" EXACT [] synonym: "WTC11" EXACT [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM25256&Product=CC is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005740 ! iPSC derived cell line relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0009748 name: response to ketamine def: "Any change in the state of an organism as a result of a ketamine stimulus. Ketamine is a selective antagonist of the NMDA receptor, used primarily in anaesthesia, sedation and pain management." [] is_a: GO:0009410 ! response to xenobiotic stimulus relationship: OBI:0000293 CHEBI:6121 ! has_input ketamine property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009749 name: age at first sexual intercourse measurement def: "A measurement of the age at which a person has the first sexual intercourse." [] xref: PMID:27089180 is_a: EFO:0007862 ! reproductive behaviour measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Maria Cerezo" xsd:string [Term] id: EFO:0009750 name: dissociation measurement def: "Quantification of some aspect of the psychological experience of dissociation. Dissociation in community samples is most commonly measured by the Dissociative Experiences Scale. The DSM-IV considers symptoms such as depersonalization, derealization and psychogenic amnesia to be core features of dissociative disorders. However, in the normal population, dissociative experiences that are not clinically significant are highly prevalent with 60% to 65% of the respondents indicating that they have had some dissociative experiences. The SCID-D is a structured interview used to assess and diagnose dissociation." [] synonym: "dissociative symptom measurement" EXACT [] xref: PMID:30552317 xref: Wikipedia:Dissociation_(psychology) is_a: EFO:0009095 ! psychological measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009751 name: facial asymmetry measurement def: "Quantification of assymetry of the face." [] xref: PMID:30631343 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009752 name: visuospatial impairment def: "Impairment of visuospatial functioning." [] is_a: EFO:0000677 ! mental or behavioural disorder property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009756 name: autoimmune type 1 diabetes def: "Autoimmune disease wherein the body's own immune system attacks and destroys the cells within the pancreas that produce insulin." [] synonym: "type 1A" EXACT [] is_a: MONDO:0005147 ! type 1 diabetes mellitus property_value: IAO:0000117 "Maria Cerezo" xsd:string [Term] id: EFO:0009757 name: idiopathic type 1 diabetes def: "An unusual form of phenotypic type 1 diabetes with almost complete insulin deficiency, a strong hereditary component, and no evidence of autoimmunity." [] synonym: "type 1B" EXACT [] is_a: MONDO:0005147 ! type 1 diabetes mellitus property_value: IAO:0000117 "Maria Cerezo" xsd:string [Term] id: EFO:0009758 name: fulminant type 1 diabetes def: "Subtype of idiopathic type 1 diabetes in which the process of β-cell destruction and the progression of hyperglycemia and ketoacidosis are extremely rapid." [] is_a: EFO:0009757 ! idiopathic type 1 diabetes property_value: IAO:0000117 "Maria Cerezo" xsd:string [Term] id: EFO:0009759 name: Chronic Obstructive Asthma def: "Chronic airway obstruction caused by asthma." [] xref: NCIt:C26976 is_a: MONDO:0004979 ! asthma property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009760 name: non-proliferative diabetic retinopathy def: "Early stage diabetic retinopathy, characterized by the absence of neovascularisation of the retina." [] synonym: "background retinopathy" EXACT [] synonym: "nonproliferative diabetic retinopathy" EXACT [] synonym: "NPDR" EXACT [] xref: MedDRA:10054109 is_a: EFO:0003770 ! diabetic retinopathy property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009761 name: periprosthetic osteolysis def: "A progressive resorption of bone caused by a host inflammatory response to particulate wear debris produced by friction between articulating surfaces in a total joint replacement." [] synonym: "particular wear debris osteolysis" EXACT [] xref: MedDRA:10052306 is_a: EFO:0004260 ! bone disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009762 name: healthspan def: "The period of a person's life during which they are generally healthy and free from serious or chronic illness." [] synonym: "health span" EXACT [] synonym: "health-span" EXACT [] xref: PMID:30729179 is_a: EFO:0000719 ! temporal measurement relationship: IAO:0000136 GO:0007568 ! is_about aging property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009764 name: eye colour measurement def: "The quantification of some aspect of eye colour, such as hue, saturation or brightness." [] xref: PMID:30664655 is_a: EFO:0004731 ! eye measurement relationship: IAO:0000136 UBERON:0000970 ! is_about eye property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009765 name: alanine measurement def: "Quantification of the amount of the amino acid alanine in a sample." [] xref: PMID:30659259 is_a: EFO:0005134 ! amino acid measurement relationship: IAO:0000136 CHEBI:16449 ! is_about alanine property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009766 name: asparagine measurement def: "Quantification of the amount of the amino acid asparagine in a sample." [] xref: PMID:30659259 is_a: EFO:0005134 ! amino acid measurement relationship: IAO:0000136 CHEBI:22653 ! is_about asparagine property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009767 name: glycine measurement def: "Quantification of the amount of the amino acid glycine in a sample." [] xref: PMID:30659259 is_a: EFO:0005134 ! amino acid measurement relationship: IAO:0000136 CHEBI:15428 ! is_about glycine property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009768 name: glutamine measurement def: "Quantification of the amount of the amino acid glutamine in a sample." [] xref: PMID:30659259 is_a: EFO:0005134 ! amino acid measurement relationship: IAO:0000136 CHEBI:28300 ! is_about glutamine property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009769 name: histidine measurement def: "Quantification of the amount of the amino acid histidine in a sample." [] xref: PMID:30659259 is_a: EFO:0005134 ! amino acid measurement relationship: IAO:0000136 CHEBI:27570 ! is_about histidine property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009770 name: leucine measurement def: "Quantification of the amount of the amino acid leucine in a sample." [] xref: PMID:30659259 is_a: EFO:0005134 ! amino acid measurement relationship: IAO:0000136 CHEBI:25017 ! is_about leucine property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009771 name: methionine measurement def: "Quantification of the amount of the amino acid methionine in a sample." [] xref: PMID:30659259 is_a: EFO:0005134 ! amino acid measurement relationship: IAO:0000136 CHEBI:16811 ! is_about methionine property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009773 name: proline measurement def: "Quantification of the amount of the amino acid proline in a sample." [] xref: PMID:30659259 is_a: EFO:0005134 ! amino acid measurement relationship: IAO:0000136 CHEBI:17203 ! is_about L-proline property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009774 name: serine measurement def: "Quantification of the amount of the amino acid serine in a sample." [] xref: PMID:30659259 is_a: EFO:0005134 ! amino acid measurement relationship: IAO:0000136 CHEBI:17822 ! is_about serine property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009775 name: threonine measurement def: "Quantification of the amount of the amino acid threonine in a sample." [] xref: PMID:30659259 is_a: EFO:0005134 ! amino acid measurement relationship: IAO:0000136 CHEBI:26986 ! is_about threonine property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009776 name: ornithine measurement def: "Quantification of the amount of the amino acid ornithine in a sample." [] xref: PMID:30659259 is_a: EFO:0005134 ! amino acid measurement relationship: IAO:0000136 CHEBI:18257 ! is_about ornithine property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009777 name: citrulline measurement def: "Quantification of the amount of the amino acid citrulline in a sample." [] xref: PMID:30659259 is_a: EFO:0005134 ! amino acid measurement relationship: IAO:0000136 CHEBI:18211 ! is_about citrulline property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009778 name: tri-iodothyronine measurement def: "Quantification of the thyroid hormone tri-iodothyronine (T3) in the blood, usually as an indicator of thyroid function." [] synonym: "T3 measurement" EXACT [] synonym: "thyroid T3 measurement" EXACT [] xref: PMID:30824882 is_a: EFO:0004730 ! hormone measurement property_value: IAO:0000117 "Maria Cerezo" xsd:string [Term] id: EFO:0009779 name: tri-iodothyronine/thyroxine ratio measurement def: "Quantification of the thyroid hormone tri-iodothyronine (T3)/ thyroxine (T4) ratio in the blood, usually as an indicator of thyroid function." [] synonym: "T3/T4 ratio measurement" EXACT [] synonym: "thyroid T3/T4 ratio measurement" EXACT [] xref: PMID:30824882 is_a: EFO:0004730 ! hormone measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Maria Cerezo" xsd:string [Term] id: EFO:0009780 name: HER2 negative breast carcinoma def: "A biologic subset of breast carcinoma defined by absence of HER2." [] synonym: "Her2-receptor negative breast cancer" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0060080 {source="MONDO:equivalentTo"} xref: https://www.cancer.gov/publications/dictionaries/cancer-terms/def/her2-negative xref: MONDO:0000618 xref: NCIT:C168519 {source="MONDO:equivalentTo"} xref: SCTID:431396003 {source="MONDO:equivalentTo"} xref: UMLS:C4733095 {source="MONDO:equivalentTo"} is_a: EFO:1000143 {source="MONDO:cjm"} ! Breast Carcinoma by Gene Expression Profile property_value: definition:citation PMID:28864454 xsd:string property_value: exactMatch DOID:0060080 property_value: exactMatch http://identifiers.org/snomedct/431396003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4733095 property_value: exactMatch NCIT:C168519 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0009781 name: progesterone-receptor negative breast cancer comment: Editor note: check why not in NCIT; note also that triple-negative should be classified here synonym: "progesterone-receptor negative breast cancer" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "progesterone-receptor negative breast cancer" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0060078 {source="MONDO:equivalentTo"} xref: MONDO:0000616 xref: PMID:28864454 is_a: EFO:1000143 {source="MONDO:cjm"} ! Breast Carcinoma by Gene Expression Profile property_value: exactMatch DOID:0060078 property_value: exactMatch DOID:0060078 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009782 name: progesterone-receptor positive breast cancer def: "A subtype of breast cancer that is progesterone-receptor positive." [] xref: https://www.breastcancer.org/symptoms/diagnosis/hormone_status is_a: EFO:0000305 ! breast carcinoma property_value: definition:citation PMID:28864454 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0009783 name: carotid atherosclerosis def: "A thickening and loss of elasticity of the walls of carotid arteries that occur with formation of atherosclerotic plaques." [] synonym: "ATHEROSCLEROTIC DIS CAROTID" EXACT [] synonym: "Atherosclerotic Disease, Carotid" EXACT [] synonym: "Atherosclerotic Diseases, Carotid" EXACT [] synonym: "Carotid Atheroscleroses" EXACT [] synonym: "CAROTID ATHEROSCLEROTIC DIS" EXACT [] synonym: "Carotid Atherosclerotic Disease" EXACT [] synonym: "carotid atherosclerotic disease" EXACT [] synonym: "Carotid Atherosclerotic Diseases" EXACT [] is_a: EFO:0003781 ! carotid artery disease is_a: EFO:0003914 ! atherosclerosis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009784 name: central serous retinopathy def: "Central serous retinopathy, also known as central serous chorioretinopathy, is an eye disease that causes visual impairment, usually in one eye. When the disorder is active it is characterized by leakage of fluid under the retina that has a propensity to accumulate under the central macula. This results in blurred or distorted vision (metamorphopsia)." [] synonym: "central serous chorioretinopathy" EXACT [] xref: MedDRA:10007974 is_a: EFO:0003839 ! retinopathy property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009785 name: remission def: "A disease stage which is characterized by the lack of a manifestation of a disease." [] synonym: "disease remission" EXACT [] xref: NCIt:C18246 xref: UMLS:C0544452 is_a: EFO:0000410 ! disease staging property_value: definition:citation OGMS:0000106 xsd:string property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009786 name: encounter with health service def: "Reason by which a person encounters a health service; useful to classify cases when the encounter is due to circumstances other than a disease or injury. This may happen (a) when a person who may or may not be sick encounters the health services for some specific purpose, such as to receive limited care or service for a current condition, to donate an organ or tissue, to receive prophylactic vaccination (immunization), or to discuss a problem which is in itself not a disease or injury; or (b) when some circumstance or problem is present which influences the person's health status but is not in itself a current illness or injury." [] xref: ICD10:Z43 xref: ICD10:Z44 xref: ICD10:Z45 xref: ICD10:Z46 xref: ICD10:Z51 xref: ICD10:Z53 xref: ICD10:Z71 xref: ICD10:Z73 xref: ICD10:Z76 is_a: EFO:0009629 ! event property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009787 name: encounter with health service related to reproduction def: "An encounter with members of a health service related to reproduction issues." [] xref: ICD10:Z31 xref: ICD10:Z36 xref: ICD10:Z39 is_a: EFO:0009786 ! encounter with health service [Term] id: EFO:0009788 name: encounter with health service related to socioeconomic and psychosocial circumstances def: "An encounter with members of a health service related to socioeconomic and psychosocial circumstances." [] xref: ICD10:Z60 is_a: EFO:0009786 ! encounter with health service [Term] id: EFO:0009789 name: encounter with health service related to previous surgical history def: "An encounter with members of a health service related to previous surgical history." [] xref: ICD10:Z93 xref: ICD10:Z98 is_a: EFO:0009786 ! encounter with health service [Term] id: EFO:0009790 name: asparaginase activity measurement def: "Quantification of the activity of the enzyme asparaginase in a sample, following its administration as a medication. Asparaginase is typically used in the treatment of acute lymphoblastic leukemia, acute myeloid leukemia, and non-Hodgkin's lymphoma." [] xref: PMID:30450575 is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 EFO:0004881 ! is_about asparaginase hypersensitivity property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009791 name: fatty acid desaturase enzyme activity measurement def: "Quantification of the amount of fatty acid desaturase enzyme activity." [] xref: PMID:30453627 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009792 name: valine measurement def: "Quantification of the amount of the amino acid valine in a sample." [] xref: PMID:30659259 is_a: EFO:0005134 ! amino acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009793 name: isoleucine measurement def: "Quantification of the amount of the amino acid isoleucine in a sample." [] xref: PMID:30659259 is_a: EFO:0005134 ! amino acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009794 name: NRF2 measurement def: "Quantification of the amount of nuclear factor (erythroid-derived 2)-like 2 protein in a sample." [] synonym: "NFE2L2 measurement" EXACT [] synonym: "Nuclear factor (erythroid-derived 2)-like 2 measurement" EXACT [] xref: PMID:30767168 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009795 name: serum urea measurement def: "Quantification of the amount of urea in serum." [] synonym: "urea measurement" EXACT [] xref: PMID:30808845 is_a: EFO:0004742 ! renal system measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009796 name: response to supplemental oxygen def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxygen stimulus." [] synonym: "response to oxygen therapy" EXACT [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0009797 name: lung disease associated with cystic fibrosis def: "A spectrum of lung disorders that develop in patients with cystic fibrosis." [] is_a: EFO:0003818 ! lung disease property_value: definition:citation PMID:26417704 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0009799 name: self-reported trait def: "Characteristics of an individual that are reported by the individual, usually to medical staff, including via questionnaires, rather than observed or measured directly by medical staff." [] is_a: BFO:0000019 ! quality [Term] id: EFO:0009800 name: number of cancers, self-reported def: "Number of cancer occurrences in an individual, as reported by the individual." [] is_a: EFO:0009799 ! self-reported trait [Term] id: EFO:0009801 name: number of non-cancer illnesses, self-reported def: "Number of non-cancer illness occurrences in an individual, as reported by the individual." [] is_a: EFO:0009799 ! self-reported trait [Term] id: EFO:0009802 name: number of operations, self-reported def: "Number of surgical procedures performed on an individual, as reported by the individual." [] is_a: EFO:0009799 ! self-reported trait [Term] id: EFO:0009803 name: number of treatments or medications taken, self-reported def: "Number of treatments undergone by an individual (including medications taken), as reported by the individual." [] is_a: EFO:0009799 ! self-reported trait property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009804 name: pulse wave reflection index measurement def: "Quantification of some aspect of cardiovascular system; reflection index is a measure of reflection. A digital volume pulse can be considered to be the summation of a direct and a reflected component. The direct component is due to transmission of a pressure wave from the left ventricle to the finger via the most direct route. The reflected component is formed by pressure transmitted from the heart to the lower body where it is reflected back up the aorta and thence to the finger. If 'b' is the height of direct wave peak and 'a' is the height of reflected wave peak, the reflected index = (a/b) * 100%." [] is_a: EFO:0004298 ! cardiovascular measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009805 name: whole body water mass def: "The weight of an individual's body water, i.e. the water content of a body that is contained in the tissues, the blood, the bones and elsewhere. The percentages of body water contained in various fluid compartments add up to total body water (TBW)." [] xref: Wikipedia:Body_water is_a: EFO:0004302 ! anthropometric measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009806 name: total hip arthroplasty def: "A surgical procedure in which the hip joint is replaced by a prosthetic implant, that is, a hip prosthesis. A total hip replacement (total hip arthroplasty) consists of replacing both the acetabulum and the femoral head." [] synonym: "Hip Prosthesis Implantation" EXACT [] synonym: "Hip Replacement" EXACT [] synonym: "Hip Replacement Arthroplasty" EXACT [] synonym: "Total Hip Replacement" EXACT [] xref: https://en.wikipedia.org/wiki/Hip_replacement xref: PMID:30794219 is_a: EFO:0002571 ! medical procedure property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009807 name: cadaver dissection def: "Sequential division of tissue layers to expose (and isolate) organs and organ parts of a deceased human body." [] synonym: "post-mortem dissection" EXACT [] is_a: EFO:0003856 ! dissection is_a: EFO:0009627 ! collecting specimen from organ postmortem property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009808 name: immunosurgery def: "a process by which the outer layer (trophoblast) of a blastocyst is selectively destroyed by antiserum and complement, used especially to obtain the embryonic stem cells of the inner cell mass" [] xref: PMID:18989406 is_a: OBI:0600005 ! collecting specimen from organism property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009809 name: single nucleus RNA sequencing def: "Single nucleus RNA sequencing examines the sequence information from individual nuclei with optimized next generation sequencing (NGS) technologies. This allows the RNA-seq profiling of cell types that are more vulnerable to the tissue dissociation process, and that are therefore underrepresented in the final data set in single cell sequencing." [] synonym: "snRNA-seq" EXACT [] xref: PMID:24248345 xref: PMID:30586455 is_a: EFO:0002770 ! transcription profiling by high throughput sequencing relationship: OBI:0000293 GO:0005634 ! has_input nucleus property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:0009810 name: full length single nucleus RNA sequencing def: "Single nucleus sequencing process using an approach where the full length of each RNA molecule is sequenced" [] is_a: EFO:0009809 ! single nucleus RNA sequencing property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009811 name: tag based single nucleus RNA sequencing def: "Single nucleus sequencing process using an approach where only a short fragment (tag) at a defined position in each RNA molecule is sequenced" [] is_a: EFO:0009809 ! single nucleus RNA sequencing property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009812 name: secondary malignant neoplasm def: "A malignant neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment." [NCIT:C4968] comment: Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future. synonym: "secondary cancer" EXACT [NCIT:C4968] synonym: "secondary malignancy" EXACT [NCIT:C4968] synonym: "secondary malignant neoplasm" EXACT [NCIT:C4968] synonym: "secondary malignant neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "secondary malignant neoplasm" EXACT [] {comment="preferred label from MONDO"} xref: ICD9:198.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:198.89 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:199.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:199.1 {source="MONDO:relatedTo", source="i2s"} xref: MONDO:0024881 xref: NCIT:C4968 {source="MONDO:equivalentTo"} xref: SCTID:128462008 {source="MONDO:equivalentTo"} is_a: MONDO:0004992 {source="NCIT:C4968"} ! cancer is_a: MONDO:0024882 {source="NCIT:C4968"} ! secondary neoplasm property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751623 property_value: exactMatch http://identifiers.org/snomedct/128462008 property_value: exactMatch http://identifiers.org/snomedct/128462008 property_value: exactMatch NCIT:C4968 property_value: exactMatch NCIT:C4968 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009813 name: disease characteristic def: "An attribute of a disease." [MONDO:cjm] synonym: "disease characteristic" EXACT [] {comment="preferred label from MONDO"} synonym: "disease qualifier" EXACT [] synonym: "modifier" EXACT [NCIT:C41009] synonym: "qualifier" EXACT [NCIT:C41009] xref: MONDO:0021125 xref: NCIT:C41009 {source="MONDO:equivalentTo"} xref: NCIt:C41009 is_a: BFO:0000019 ! quality property_value: exactMatch NCIT:C41009 [Term] id: EFO:0009814 name: number of children fathered measurement def: "A measurement of the number of children fathered by a male individual." [] is_a: EFO:0007862 ! reproductive behaviour measurement relationship: IAO:0000136 UBERON:0000079 ! is_about male reproductive system [Term] id: EFO:0009815 name: CASCOT confidence score measurement def: "CASCOT stands for Computer Assisted Structure COding Tool. This is used to translate free-text job descriptions into Standard Occupational Classification (SOC) 2000 codes. The CASCOT programme generates a confidence score (1-100%) for each job description, which represents the Bayesian probability that the computer-assigned SOC code is that which would be assigned manually by experts in job coding." [] xref: http://biobank.ctsu.ox.ac.uk/crystal/docs/JobRecoding.pdf is_a: EFO:0001444 ! measurement [Term] id: EFO:0009816 name: perineal laceration during delivery def: "A laceration of the skin and other soft tissue structures which, in women, separate the vagina from the anus, occurring during childbirth." [] synonym: "perineal tear" EXACT [] xref: Wikipedia:Perineal_tear is_a: EFO:0000546 ! injury property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009817 name: ease of getting up in the morning, self-reported def: "Ease of getting up in the morning, as reported by an individual." [] is_a: EFO:0009799 ! self-reported trait property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009818 name: nap during day, self-reported def: "Having a nap during the day, as reported by an individual." [] xref: NCIt:C118602 is_a: EFO:0009799 ! self-reported trait [Term] id: EFO:0009819 name: comparative body size at age 10, self-reported def: "Description of an individual's body size at age 10 compared to average, as reported by the individual." [] is_a: EFO:0009799 ! self-reported trait property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009820 name: seeing a general practitioner for nerves, anxiety, tension or depression, self-reported def: "Seeing a general practitioner for nerves, anxiety, tension or depression, as reported by an individual." [] is_a: EFO:0009799 ! self-reported trait property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009821 name: seeing a psychiatrist for nerves, anxiety, tension or depression, self-reported def: "Seeing a psychiatrist for nerves, anxiety, tension or depression, as reported by an individual." [] is_a: EFO:0009799 ! self-reported trait property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009822 name: ability to walk or cycle unaided for 10 minutes, self-reported def: "Ability to walk or cycle unaided for 10 minutes, as reported by an individual." [] is_a: EFO:0009799 ! self-reported trait property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009823 name: achievement of target heart rate, self-reported def: "Indication of whether a target heart rate was achieved by an individual, e.g. during a fitness test, as reported by the individual." [] is_a: EFO:0009799 ! self-reported trait property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009824 name: bringing up phlegm, sputum or mucus on most days, self-reported def: "Indication of whether an individual brings up phlegm, sputum or mucus on most days, as reported by the individual." [] is_a: EFO:0009799 ! self-reported trait property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009825 name: sign or symptom concerning food and fluid intake def: "A sign or symptom concerning the intake of food and/or fluids." [] xref: ICD10:R63 is_a: EFO:0003765 ! sign or symptom property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009826 name: abnormality of serum enzyme levels def: "An abnormality in the levels of enzymes in serum." [] xref: ICD10:R74 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009827 name: abnormal result of diagnostic imaging def: "Abnormal result of a diagnostic imaging test." [] xref: ICD10:R93 is_a: EFO:0000720 ! test result property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009829 name: vascular smooth muscle hypertrophy def: "Increase in size or thickness of the smooth muscle of the vascular wall." [] xref: MP:0002975 is_a: HP:0030680 ! Abnormal cardiovascular system morphology property_value: IAO:0000117 "Eirini Petsalaki" xsd:string [Term] id: EFO:0009832 name: cellular infiltration def: "Normal or pathologic migration and accumulation of cells within tissues. [ NCI ]" [] synonym: "Cellular Infiltration" EXACT [] xref: NCIt:C28491 is_a: GO:0032501 ! multicellular organismal process property_value: IAO:0000117 "Eirini Petsalaki" xsd:string [Term] id: EFO:0009833 name: kidney injury def: "Trauma to the kidney." [] synonym: "injury to kidney" EXACT [] xref: MedDRA:10061481 xref: NCIt:C35245 xref: SCTID:40095003 is_a: EFO:0000546 ! injury property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Eirini Petsalaki" xsd:string [Term] id: EFO:0009834 name: respiratory process def: "A Respiratory Process involves the function of components of the respiratory tract involved in breathing, which include the nose, throat, larynx, trachea, bronchi, and lungs." [] xref: GO:0003016 xref: NCIt:C41477 is_a: GO:0008150 ! biological_process property_value: IAO:0000117 "Eirini Petsalaki" xsd:string [Term] id: EFO:0009835 name: increased respiratory secretion def: "An increase in respiratory secretions." [] synonym: "Increased Respiratory Secretions" EXACT [] xref: NCIt:C121630 is_a: EFO:0009834 ! respiratory process property_value: IAO:0000117 "Eirini Petsalaki" xsd:string [Term] id: EFO:0009836 name: bronchoconstriction def: "Bronchoconstriction involves narrowing of air passage lumina, typically due to bronchial smooth muscle contraction, and leads to decreased air flow." [] xref: MedDRA:10006464 xref: NCIt:C40942 is_a: EFO:0009834 ! respiratory process property_value: IAO:0000117 "Eirini Petsalaki" xsd:string [Term] id: EFO:0009837 name: bronchodilation def: "Bronchodilation involves widening of air passage lumina, typically due to bronchial smooth muscle relaxation, and leads to increased air flow." [] xref: NCIt:C40943 is_a: EFO:0009834 ! respiratory process property_value: IAO:0000117 "Eirini Petsalaki" xsd:string [Term] id: EFO:0009838 name: alteration in respiration xref: NCIt:C3676 is_a: EFO:0003765 ! sign or symptom property_value: IAO:0000117 "Eirini Petsalaki" xsd:string [Term] id: EFO:0009839 name: bradypnea def: "Abnormal decrease of rate of breathing." [] synonym: "Decreased Respiratory Rate" EXACT [] synonym: "Rate Of Respiration, Decreased" EXACT [] synonym: "Respiratory Rate, Decreased" EXACT [] xref: MedDRA:10006101 xref: NCIt:C50474 is_a: EFO:0009838 ! alteration in respiration property_value: IAO:0000117 "Eirini Petsalaki" xsd:string [Term] id: EFO:0009840 name: tachypnea def: "Abnormal increase of rate of breathing." [] synonym: "Fast Breathing" EXACT [] synonym: "Increased Respiratory Rate" EXACT [] synonym: "Rate Of Respiration, Increased" EXACT [] synonym: "Respiratory Rate, Increased" EXACT [] xref: MedDRA:10043088 xref: NCIt:C50767 is_a: EFO:0009838 ! alteration in respiration property_value: IAO:0000117 "Eirini Petsalaki" xsd:string [Term] id: EFO:0009841 name: irregular respiration def: "A change from the normal breathing pattern in an infant, child, or adult, in terms of the amplitude and frequency of inhalations and exhalations." [] synonym: "Irregular Breathing" EXACT [] xref: NCIt:C87089 is_a: EFO:0009838 ! alteration in respiration property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Eirini Petsalaki" xsd:string [Term] id: EFO:0009842 name: respiratory depression def: "A decrease in ventilation secondary to impaired signals from the central nervous system." [] xref: MedDRA:10038678 xref: NCIt:C116314 is_a: EFO:0009838 ! alteration in respiration property_value: IAO:0000117 "Eirini Petsalaki" xsd:string [Term] id: EFO:0009843 name: substance-induced sleep disorder def: "A sleep disorder (insomnia, hypersomnia, or parasomnia) for which there is strong evidence that the disorder is etiologically linked to the direct physiological effects of a substance (i.e., a drug of abuse, a medication, or toxin exposure)." [] xref: NCIt:C95079 is_a: EFO:0008568 ! Sleep Disorder property_value: IAO:0000117 "Eirini Petsalaki" xsd:string [Term] id: EFO:0009844 name: nightmare def: "A disturbing dream that occurs during rapid eye movement sleep and results in feelings of strong terror, fear, distress, or anxiety." [] xref: MedDRA:10029412 xref: NCIt:C117263 is_a: EFO:0003765 ! sign or symptom property_value: IAO:0000117 "Eirini Petsalaki" xsd:string [Term] id: EFO:0009845 name: catalepsy def: "A nervous system disorder characterized by diminished responsiveness and consciousness, and rigidity of the body." [] xref: MedDRA:10007736 xref: NCIt:C34452 is_a: EFO:0000618 ! nervous system disease property_value: IAO:0000117 "Eirini Petsalaki" xsd:string [Term] id: EFO:0009846 name: muscle cramp def: "A sustained, sudden and involuntary contraction of a muscle or group of muscles." [] synonym: "Cramp" EXACT [] synonym: "Cramp(s)" EXACT [] synonym: "Muscle Cramping" EXACT [] synonym: "Spasm" EXACT [] xref: MedDRA:10028294 xref: NCIt:C34827 is_a: EFO:0003765 ! sign or symptom property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Eirini Petsalaki" xsd:string [Term] id: EFO:0009847 name: dizziness def: "A sensation of lightheadedness, unsteadiness, turning, spinning or rocking." [] synonym: "dizzy" EXACT [] synonym: "lightheadedness" EXACT [] xref: MedDRA:10013573 xref: NCIt:C37943 is_a: EFO:0003765 ! sign or symptom property_value: IAO:0000117 "Eirini Petsalaki" xsd:string [Term] id: EFO:0009848 name: antiemetic effect def: "An antiemetic effect involves suppression of nausea and vomiting. Emesis is a complex process coordinated by a central emesis center located in the lateral reticular formation of the mid-brainstem. Inhibition of certain neurotransmitters (e.g., 5-HT) or their receptors located in this region inhibits emesis." [] xref: NCIt:C40856 is_a: EFO:0003765 ! sign or symptom property_value: IAO:0000117 "Eirini Petsalaki" xsd:string [Term] id: EFO:0009849 name: sexual arousal def: "Heightened urges of sexual desires in preparation for sexual behavior." [] xref: NCIt:C73522 is_a: EFO:0004323 ! mental process is_a: GO:0000003 ! reproduction property_value: IAO:0000117 "Eirini Petsalaki" xsd:string [Term] id: EFO:0009850 name: masculinization of female, CTCAE synonym: "Masculinization of female" EXACT [] xref: NCIt:C55805 is_a: HP:0000818 ! Abnormality of the endocrine system property_value: IAO:0000117 "Eirini Petsalaki" xsd:string [Term] id: EFO:0009851 name: muscle atrophy def: "The loss of muscle tissue due to inactivity or disease." [] synonym: "muscle wasting" EXACT [] xref: MedDRA:10028289 xref: NCIt:C94834 is_a: EFO:1000096 ! Atrophy property_value: IAO:0000117 "Eirini Petsalaki" xsd:string [Term] id: EFO:0009852 name: exhaustion xref: MedDRA:10015667 is_a: HP:0012378 ! Fatigue property_value: definition:citation SYMP:0000186 xsd:string property_value: IAO:0000117 "Eirini Petsalaki" xsd:string [Term] id: EFO:0009853 name: convulsion def: "A rapid and repeated body muscle contract that results in an uncontrolled shaking of the body." [] xref: MedDRA:10010904 is_a: HP:0000707 ! Abnormality of the nervous system property_value: definition:citation NBO:0000645 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Eirini Petsalaki" xsd:string [Term] id: EFO:0009854 name: treatment resistant depression def: "Unipolar depression that does not respond to commonly used treatments, typically defined as lack of response to at least two appropriate antidepressant treatments." [] synonym: "TRD" EXACT [] synonym: "treatment refractory depression" EXACT [] is_a: EFO:0003761 ! unipolar depression property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009855 name: frontal fibrosing alopecia def: "A lichenoid and scarring inflammatory skin disorder associated with widespread cutaneous inflammation and irreversible hair loss, which occurs predominantly in women of post-menopausal age." [] xref: MedDRA:10081739 is_a: EFO:0009856 ! lichen planopilaris is_a: MONDO:0007902 ! lichen planus, familial is_a: Orphanet:68346 ! Rare genetic skin disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009856 name: lichen planopilaris def: "Lichen planopilaris (LPP) is an inflammatory condition that causes patchy hair loss, mainly on the scalp. It is a form of lichen planus that most often affects women in young adulthood. There are 3 forms of LPP, distinguished by specific patterns and locations of symptoms: classic LPP, frontal fibrosing alopecia, and Lassueur Graham-Little Piccardi syndrome." [] synonym: "Follicular lichen planus" EXACT [] synonym: "Frontal fibrosing alopecia (subtype)" EXACT [] synonym: "Kossard disease" EXACT [] synonym: "Lichen follicularis" EXACT [] synonym: "Lichen planopilaris classic type" EXACT [] synonym: "Lichen planus follicularis" EXACT [] synonym: "LPP" EXACT [] xref: MedDRA:10081142 is_a: EFO:1000726 ! lichen planus property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009857 name: ruminative stress response def: "Quantification of ruminative style response to stress, characterised by passive and repetitive reflection on feelings and difficulties." [] synonym: "rumination" EXACT [] xref: PMID:30886212 is_a: GO:0006950 ! response to stress property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009858 name: brooding stress response def: "Quantification of brooding style response to stress. It is a subtype of ruminative style response to stress." [] synonym: "brooding" EXACT [] xref: PMID:30886212 is_a: EFO:0009857 ! ruminative stress response property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009859 name: reflective stress response def: "Quantification of reflection style response to stress. It is a subtype of ruminative style response to stress." [] synonym: "reflection" EXACT [] xref: PMID:30886212 is_a: EFO:0009857 ! ruminative stress response property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009860 name: chromosomal aberration frequency def: "Frequency of chromosomal aberrations in human peripheral blood." [] synonym: "CA" EXACT [] xref: PMID:30368896 is_a: EFO:0004554 ! genomic measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009861 name: chromosome-type aberration frequency def: "Frequency of chromosome-type chromosomal aberrations in human peripheral blood (typically resulting in damage to both chromatids)." [] synonym: "CSA" EXACT [] xref: PMID:30368896 is_a: EFO:0009860 ! chromosomal aberration frequency property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009862 name: chromatid-type aberration frequency def: "Frequency of chromatid-type chromosomal aberrations in human peripheral blood (typically resulting in damage to a single chromatid)." [] synonym: "CTA" EXACT [] xref: PMID:30368896 is_a: EFO:0009860 ! chromosomal aberration frequency property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009863 name: anxiety measurement def: "Quantification of the level of a generalised feeling of anxiety experienced by an individual, typically measured via a questionnaire." [] xref: PMID:30867560 is_a: EFO:0007803 ! emotional symptom measurement relationship: IAO:0000136 EFO:0005230 ! is_about anxiety property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009864 name: metabolic network measurement def: "Quantification of some high level aspect of a metabolic network." [] xref: PMID:30852652 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009865 name: transcriptome measurement def: "Quantification of some aspect of the transcriptome." [] xref: PMID:30852652 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009866 name: pulmonary vascular congestion def: "Obstruction of the normal flux of blood within the blood vessel network of the lung resulting in engorgement of pulmonary vessels; frequently precedes pulmonary edema." [] synonym: "congested lung vasculature" EXACT [] synonym: "lung vascular congestion" EXACT [] synonym: "pulmonary congestion" EXACT [] synonym: "PVC" EXACT [] xref: MP:0010018 is_a: HP:0002088 ! Abnormal lung morphology is_a: HP:0002597 ! Abnormality of the vasculature property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Eirini Petsalaki" xsd:string [Term] id: EFO:0009867 name: dysphoria def: "Dysphoria is a profound state of unease or dissatisfaction. In a psychiatric context, dysphoria may accompany depression, anxiety, or agitation. Common reactions to dysphoria include emotional distress or indifference." [] xref: MedDRA:10013954 xref: OAE:0001946 xref: Wikipedia:Dysphoria is_a: EFO:0000677 ! mental or behavioural disorder property_value: IAO:0000117 "Eirini Petsalaki" xsd:string [Term] id: EFO:0009868 name: sedation def: "The process of allaying nervous excitement or the state of being calmed." [] xref: NCIt:C21097 xref: UMLS:C0344106 is_a: EFO:0002571 ! medical procedure property_value: IAO:0000117 "Eirini Petsalaki" xsd:string [Term] id: EFO:0009869 name: xerostomia def: "Dryness of the mouth resulting from reduced salivary secretion." [] synonym: "dry mouth" EXACT [] xref: MedDRA:10048223 xref: MESH:D014987 xref: MP:0000624 xref: snomedct:87715008 is_a: HP:0000153 ! Abnormality of the mouth property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Eirini Petsalaki" xsd:string [Term] id: EFO:0009870 name: bone metastasis def: "Transfer of a neoplasm from its primary site to bones." [] synonym: "metastasis to bone" EXACT [] xref: OAE:0001175 is_a: EFO:0009708 ! metastasis property_value: IAO:0000117 "Eirini Petsalaki" xsd:string [Term] id: EFO:0009871 name: increased heart weight def: "Greater than average weight of the heart compared to controls." [] xref: MP:0002833 is_a: HP:0030680 ! Abnormal cardiovascular system morphology property_value: IAO:0000117 "Eirini Petsalaki" xsd:string [Term] id: EFO:0009872 name: increased cardiac output def: "Greater than normal blood volume pumped by each ventricle per minute." [] xref: MP:0003394 is_a: HP:0030680 ! Abnormal cardiovascular system morphology property_value: IAO:0000117 "Eirini Petsalaki" xsd:string [Term] id: EFO:0009873 name: decreased cardiac output def: "Reduction in the blood volume pumped by each ventricle per minute." [] xref: MP:0003393 is_a: HP:0030680 ! Abnormal cardiovascular system morphology property_value: IAO:0000117 "Eirini Petsalaki" xsd:string [Term] id: EFO:0009874 name: decreased anxiety-related response def: "When compared to controls, subjects exhibit fewer responses thought to be indicative of anxiety in behavioral tests." [] synonym: "decreased anxiety" EXACT [] synonym: "reduced anxiety" EXACT [] synonym: "reduced anxiety in dark-light crossing task" EXACT [] synonym: "reduced anxiety in elevated plus maze test" EXACT [] synonym: "reduced anxiety in elevated zero maze test" EXACT [] xref: MP:0001364 is_a: EFO:0005230 ! anxiety property_value: IAO:0000117 "Eirini Petsalaki" xsd:string [Term] id: EFO:0009875 name: thymus atrophy def: "Acquired diminution of the size of the thymus associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes." [] synonym: "atrophic thymus" EXACT [] synonym: "atrophied thymus" EXACT [] synonym: "thymic atrophy" EXACT [] xref: MP:0003644 is_a: HP:0002715 ! Abnormality of the immune system property_value: IAO:0000117 "Eirini Petsalaki" xsd:string [Term] id: EFO:0009876 name: abnormal lipolysis def: "Anomaly in the process of the hydrolysis of fat into free fatty acids." [] synonym: "abnormal lipoclasis" EXACT [] synonym: "abnormal lipodieresis" EXACT [] xref: MP:0008032 is_a: HP:0003119 ! Abnormal circulating lipid concentration property_value: IAO:0000117 "Eirini Petsalaki" xsd:string [Term] id: EFO:0009877 name: decreased bone mass def: "A reduction in the total amount of bone tissue contained in the skeleton." [] synonym: "reduced bone mass" EXACT [] xref: MP:0004016 is_a: HP:0000924 ! Abnormality of the skeletal system property_value: IAO:0000117 "Eirini Petsalaki" xsd:string [Term] id: EFO:0009878 name: drug interaction def: "Alteration of the disposition and/or effect of a drug, owing to the presence of another factor such as a second drug, or food." [] xref: MedDRA:10013710 xref: NCIt:C54708 xref: UMLS:C0687133 is_a: GO:0008150 ! biological_process property_value: IAO:0000117 "Eirini Petsalaki" xsd:string [Term] id: EFO:0009879 name: gastric hemorrhage def: "Bleeding from the gastric wall." [] xref: MedDRA:10017789 xref: NCIt:C54582 xref: UMLS:C0235325 is_a: HP:0025031 ! Abnormality of the digestive system property_value: IAO:0000117 "Eirini Petsalaki" xsd:string [Term] id: EFO:0009880 name: teratogenicity def: "A toxicity disposition that inheres in a substance that is capable of causing adverse effects on a developing embryo or foetus." [] synonym: "pre-natal developmental toxicity" EXACT [] xref: MedDRA:10043275 is_a: EFO:0000546 ! injury property_value: definition:citation ENM:0000031 xsd:string property_value: IAO:0000117 "Eirini Petsalaki" xsd:string [Term] id: EFO:0009881 name: nonischemic cardiomyopathy def: "Forms of cardiomyopathy that are not related to known coronary artery disease." [] synonym: "non-ischaemic cardiomyopathy" EXACT [] synonym: "non-ischemic cardiomyopathy" EXACT [] synonym: "nonischaemic cardiomyopathy" EXACT [] is_a: EFO:0000318 ! cardiomyopathy property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009882 name: urinary potassium to creatinine ratio def: "Quantification of the ratio of potassium to creatinine in a urine sample." [] xref: PMID:30910378 is_a: EFO:0005116 ! urinary metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009883 name: urinary sodium to creatinine ratio def: "Quantification of the ratio of sodium to creatinine in a urine sample." [] xref: PMID:30910378 is_a: EFO:0021522 ! urinary sodium measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009884 name: urinary sodium to potassium ratio def: "Quantification of the ratio of sodium to potassium in a urine sample." [] xref: PMID:30910378 is_a: EFO:0021522 ! urinary sodium measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009885 name: frailty measurement def: "Quantification of some aspect of frailty. Frailty is usually described as clinical state of heightened vulnerability to poor resolution of homeostasis after a stressor event, which thereby increases the risk of adverse outcomes, including falls, delirium, disability and mortality." [] xref: PMID:30475886 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009886 name: blood vessel injury def: "Damage inflicted to a blood vessel." [] synonym: "injury of blood vessel" EXACT [] xref: ICD10:S15 is_a: EFO:0000546 ! injury is_a: EFO:0004264 ! vascular disease [Term] id: EFO:0009887 name: intrathoracic organ injury def: "Damage inflicted to an intrathoracic organ." [] synonym: "injury of intrathoracic organ" EXACT [] xref: ICD10:S27 is_a: EFO:0000546 ! injury [Term] id: EFO:0009888 name: trauma complication def: "Any problem that occurs because of a trauma or injury, other than the trauma or injury itself." [] synonym: "complication of trauma" EXACT [] xref: ICD10:T79 is_a: EFO:0009518 ! complication [Term] id: EFO:0009890 name: lean mass-adjusted fat body mass def: "Quantification of an individual's body fat mass that has been corrected for lean mass." [] xref: PMID:30944420 is_a: EFO:0005409 ! fat body mass property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009891 name: carbamazepine metabolite measurement def: "Quantification of some metabolite of the anti-epileptic drug carbamazepine." [] xref: PMID:30868120 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009892 name: facial attractiveness measurement def: "Quantiication of some aspect of facial attractiveness, typically via a rating scale." [] xref: PMID:30946739 is_a: EFO:0007841 ! facial morphology measurement relationship: IAO:0000136 EFO:0004743 ! is_about facial morphology property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009893 name: response to oxcarbazepine def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a oxcarbazepine stimulus, an anti-epileptic drug." [] is_a: GO:0036277 ! response to anticonvulsant property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009894 name: carbamazepine-induced hyponatremia def: "A type of hyponatremia related to ingestion of carbamazepine." [] synonym: "carbamazepine induced hyponatraemia" EXACT [] synonym: "carbamazepine induced hyponatremia" EXACT [] synonym: "carbamazepine-induced hyponatraemia" EXACT [] is_a: HP:0002902 ! Hyponatremia property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009895 name: oxcarbazepine-induced hyponatremia def: "A type of hyponatremia related to ingestion of the carbamazepine keto-analogue oxcarbazepine." [] synonym: "oxcarbazepine induced hyponatremia" EXACT [] synonym: "oxcarbazepine-induced hyponatraemia" EXACT [] is_a: HP:0002902 ! Hyponatremia property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009896 name: anti-thyroglobulin antibody measurement def: "A quantification of antibodies against thyroglobulin, usually as an indicator of autoimmune thyroid disease." [] synonym: "anti-thyroglobulin measurement" EXACT [] synonym: "TgAb measurement" EXACT [] xref: PMID:30926877 is_a: EFO:0004556 ! antibody measurement is_a: EFO:0004747 ! protein measurement is_a: EFO:0006846 ! autoimmune disease biomarker relationship: IAO:0000136 EFO:0003779 ! is_about Hashimoto's thyroiditis relationship: IAO:0000136 PR:000016283 ! is_about thyroglobulin relationship: IAO:0000136 UBERON:0002046 ! is_about thyroid gland property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009897 name: obsolete_10x v1 def: "10x v1 is the first version of the 10x sequencing technology." [] synonym: "10X v1" RELATED [] synonym: "10x v1 sequencing" RELATED [] synonym: "10XV1" EXACT [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.31.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "This term technically referred to the 3' version of the 10x technology protocol, and was created before a distinction was introduced between 3' and 5' versions." xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0009901 [Term] id: EFO:0009898 name: obsolete_10x v3 def: "10x v3 is the third version of the 10x sequencing technology. v3 gives better sensitivity (detects more genes) compared to the V2 chemistry. In addition, the oligo beads are modifidied to support feature barcoding and the UMI barcode is 12bp long (compared to 10bp in v2)" [] synonym: "10X v3" EXACT [] synonym: "10x v3 sequencing" RELATED [] synonym: "10XV3" EXACT [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.31.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "This term technically referred to the 3' version of the 10x technology protocol, and was created before a distinction was introduced between 3' and 5' versions." xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0009922 [Term] id: EFO:0009899 name: 10x 3' v2 def: "10X 3' v2 is the second version of the 10x sequencing technology that sequences from the 3' end of nucleic acid molecules. In the 3' assay, the polyd(T) sequence is part of the gel bead oligo (which also contains the 10x Barcode, UMI, and partial Illumina Read 1 sequence), with the template switch oligo (TSO) supplied in the RT Primer." [] synonym: "10X 3' v2" EXACT [] synonym: "10X 3' v2 sequencing" RELATED [] synonym: "10x 3' v2 sequencing" RELATED [] synonym: "10X v2" RELATED [] synonym: "10x v2" RELATED [] synonym: "10X v2 sequencing" RELATED [] synonym: "10x v2 sequencing" RELATED [] synonym: "10x_v2" RELATED [] synonym: "10XV2" RELATED [] is_a: EFO:0030003 ! 10x 3' transcription profiling property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009900 name: 10x 5' v2 def: "10X 5' v2 is the second version of the 10x sequencing technology that sequences from the 5' end of nucleic acid molecules. In the 5' assay, the polyd(T) is supplied in the RT Primer, and the template switch oligo (TSO) is part of the gel bead oligo." [] synonym: "10X 5' v2" EXACT [] synonym: "10X 5' v2 sequencing" RELATED [] synonym: "10x 5' v2 sequencing" RELATED [] is_a: EFO:0030004 ! 10x 5' transcription profiling property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009901 name: 10x 3' v1 def: "10x 3' v1 is the first version of the 10X sequencing technology that sequences from the 3' end of nucleic acid molecules. Differs from 5' v1 in the captured end from the polyadenylated transcript." [] synonym: "10X 3' v1" EXACT [] synonym: "10X 3' v1 sequencing" RELATED [] synonym: "10x 3' v1 sequencing" RELATED [] synonym: "10X v1" RELATED [] synonym: "10x v1" RELATED [] synonym: "10x v1 sequencing" RELATED [] synonym: "10XV1" RELATED [] is_a: EFO:0030003 ! 10x 3' transcription profiling property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009902 name: handedness def: "A better, faster, or more precise performance or individual preference for use of a hand, known as the dominant hand; the less capable or less preferred hand is called the non-dominant hand. Dominance typically applies to all tasks, but in rare cases may be task-specific (known as cross-handedness or mixed-dominance) Ambidexterity is the ability to do any task equally well with either hand." [] synonym: "Ambidexterity" EXACT [] synonym: "Mirror Writing" EXACT [] synonym: "Mirror Writings" EXACT [] synonym: "Writing, Mirror" EXACT [] synonym: "Writings, Mirror" EXACT [] is_a: EFO:0003889 ! functional laterality property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009903 name: inflammatory disease def: "A disease involving a pathogenic inflammatory response in an anatomical structure. [ MONDO:patterns/inflammatory_disease_by_site ]" [] def: "A disease involving a pathogenic inflammatory response in the anatomical structure." [MONDO:patterns/inflammatory_disease_by_site] subset: harrisons_view subset: rare_grouping synonym: "anatomical structure inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "inflammation of anatomical structure" EXACT [] synonym: "inflammatory disease" EXACT [] {comment="preferred label from MONDO"} synonym: "inflammatory disorder" EXACT [] xref: ICD9:799.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MONDO:0021166 xref: NCIT:C93210 {source="MONDO:equivalentTo"} xref: SCTID:128139000 {source="MONDO:equivalentTo"} xref: UMLS:C1290884 {source="MONDO:equivalentTo", source="NCIT:C93210"} is_a: EFO:0000408 ! disease property_value: exactMatch http://identifiers.org/snomedct/128139000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1290884 property_value: exactMatch NCIT:C93210 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0009904 name: Lopes-Maciel-Rodan syndrome def: "An autosomal recessive neurodevelopmental disorder characterized by developmental regression in infancy, delayed psychomotor development, severe intellectual disability, and cerebral and cerebellar atrophy. Additional features include swallowing problems, dystonia, bradykinesia, and continuous manual stereotypies without chorea. Some patients manifest seizures." [] synonym: "LOMARS" EXACT [] synonym: "LOMARS" RELATED ABBREVIATION [OMIM:617435] synonym: "Lopes-Maciel-Rodan syndrome" EXACT [OMIM:617435] synonym: "Lopes-Maciel-Rodan syndrome" EXACT [] {comment="preferred label from MONDO"} xref: https://www.uniprot.org/diseases/DI-04988 xref: MONDO:0054573 xref: OMIM:617435 {source="MONDO:equivalentTo"} xref: UMLS:C4479491 {source="OMIM:617435", source="MONDO:equivalentTo"} is_a: EFO:0000618 ! nervous system disease is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0002254 ! syndromic disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479491 property_value: exactMatch https://omim.org/entry/617435 [Term] id: EFO:0009907 name: Desmoid-type fibromatosis def: "A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential." [Orphanet:873] comment: Editor note: consider separate class for inherited disease synonym: "aggressive fibromatosis" EXACT [NCIT:C9182, Orphanet:873] synonym: "deep fibromatosis" EXACT [NCIT:C9182] synonym: "deep fibromatosis/desmoid tumor" EXACT [NCIT:C9182] synonym: "deep fibromatosis/desmoid tumour" EXACT OMO:0003005 [] synonym: "desmoid disease, hereditary" RELATED [OMIM:135290] synonym: "desmoid disorder, hereditary" RELATED [GARD:0001820] synonym: "desmoid fibromatosis" EXACT [NCIT:C9182] synonym: "desmoid tumor" EXACT [NCIT:C9182] synonym: "desmoid tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "desmoid tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "desmoid tumor caused by somatic mutation" RELATED [OMIM:135290] synonym: "desmoid type fibromatosis" EXACT [Orphanet:873] synonym: "desmoid-type fibromatosis" EXACT [NCIT:C9182] synonym: "desmoid/aggressive fibromatosis" RELATED [ONCOTREE:DES] synonym: "familial infiltrative fibromatosis" RELATED [GARD:0001820] synonym: "fibromatosis, familial infiltrative" RELATED [OMIM:135290] synonym: "FIF" RELATED ABBREVIATION [GARD:0001820] xref: DOID:0080366 {source="MONDO:equivalentTo"} xref: GARD:0001820 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: ICD10:D48.1 {source="Orphanet:873", source="ORDO:873/ntbt"} xref: ICDO:8821/1 {source="NCIT:C9182"} xref: MONDO:0007608 xref: NCIT:C9182 {source="MONDO:equivalentTo"} xref: OMIM:135290 {source="Orphanet:873/btnt", source="MONDO:equivalentTo"} xref: OMIM:135290 {source="MONDO:equivalentTo", source="ORDO:873/btnt"} xref: ONCOTREE:DES {source="MONDO:equivalentTo"} xref: Orphanet:873 {source="MONDO:equivalentTo"} xref: UMLS:C0079218 {source="MONDO:equivalentTo", source="NCIT:C9182"} xref: UMLS:C1851124 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:135290"} xref: UMLS:C1851124 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:135290"} xref: UMLS:CN072436 {source="MONDO:equivalentTo"} is_a: EFO:0000497 {source="MONDO:Redundant", source="NCIT:C9182"} ! fibromatosis is_a: EFO:1000541 {source="Orphanet:873"} ! Soft Tissue Neoplasm is_a: MONDO:0017127 ! inherited soft tissue tumor is_a: MONDO:0023603 ! hereditary disorder of connective tissue is_a: Orphanet:271832 ! Genetic soft tissue tumor relationship: has_characteristic MONDO:0021136 {source="MONDO:0019099"} ! rare property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675440 property_value: exactMatch DOID:0080366 property_value: exactMatch DOID:0080366 property_value: exactMatch http://identifiers.org/omim/135290 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0079218 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0079218 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851124 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851124 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN072436 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN072436 property_value: exactMatch https://omim.org/entry/135290 property_value: exactMatch NCIT:C9182 property_value: exactMatch NCIT:C9182 property_value: exactMatch Orphanet:873 [Term] id: EFO:0009908 name: glabellar hemangioma def: "The most common variant of hemangioma which appears as a raised, red, lumpy area of flesh anywhere on the body, though 83% occur on the head or neck area." [] xref: HP:0001076 xref: UMLS:C1854408 xref: Wikipedia:Capillary_hemangioma is_a: EFO:1000635 ! hemangioma property_value: IAO:0000117 "Baron Koylass" xsd:string [Term] id: EFO:0009909 name: stage 5 chronic kidney disease def: "A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine." [] synonym: "chronic renal failure" EXACT [] synonym: "End stage renal disease" EXACT [] synonym: "End stage renal failure" EXACT [] synonym: "end-stage renal disease" EXACT [] synonym: "End-stage renal failure" EXACT [] xref: HP:0003774 xref: MedDRA:10014647 xref: MedDRA:10077512 xref: SNOMEDCT:433146000 xref: UMLS:C2316810 is_a: EFO:0003884 ! chronic kidney disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Baron Koylass" xsd:string [Term] id: EFO:0009910 name: chronic lung disease def: "According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities." [] xref: HP:0006528 xref: MedDRA:10083002 xref: SNOMEDCT:413839001 xref: UMLS:C0746102 is_a: EFO:0003818 ! lung disease is_a: EFO:0009714 ! chronic disease intersection_of: EFO:0003818 ! lung disease intersection_of: has_modifier HP:0011010 ! Chronic property_value: IAO:0000117 "Baron Koylass" xsd:string [Term] id: EFO:0009911 name: hereditary nonpolyposis colorectal carcinoma xref: HP:0006716 xref: UMLS:C4024989 is_a: EFO:0004142 ! colorectal neoplasm property_value: IAO:0000117 "Baron Koylass" xsd:string [Term] id: EFO:0009912 name: distal lower limb amyotrophy def: "Muscular atrophy of distal leg muscles." [] xref: HP:0008944 xref: UMLS:C1836451 xref: UMLS:C1866863 xref: UMLS:C3806644 is_a: EFO:0009387 ! peripheral nervous system disease property_value: IAO:0000117 "Baron Koylass" xsd:string [Term] id: EFO:0009913 name: ossifying fibroma of the jaw def: "A benign central bone tumor of the jaw composed of fibrous connective tissue within which bone is formed." [] xref: HP:0030427 xref: UMLS:C4072940 is_a: EFO:0007412 ! ossifying fibroma is_a: EFO:0009468 ! jaw disease [Term] id: EFO:0009914 name: FA complementation group E xref: OMIM:613976 xref: Orphanet:121715 xref: Reactome:Q9HB96 is_a: CHEBI:36080 ! protein property_value: definition:citation Ensembl:ENSG00000112039 xsd:string property_value: definition:citation Genatlas:FANCE xsd:string property_value: definition:citation HGNC:3586 xsd:string property_value: definition:citation SwissProt:Q9HB96 xsd:string property_value: IAO:0000117 "Baron Koylass" xsd:string [Term] id: EFO:0009915 name: TBC1 domain family member 24 synonym: "DFNA65" EXACT [] synonym: "KIAA1171" EXACT [] synonym: "TBC/LysM-associated domain containing 6, skywalker homolog (Drosophila)" EXACT [] synonym: "TLDC6" EXACT [] xref: OMIM:613577 xref: Orphanet:239943 xref: Reactome:Q9ULP9 is_a: CHEBI:36080 ! protein property_value: definition:citation Ensembl:ENSG00000162065 xsd:string property_value: definition:citation Genatlas:TBC1D24 xsd:string property_value: definition:citation HGNC:29203 xsd:string property_value: definition:citation SwissProt:Q9ULP9 xsd:string property_value: IAO:0000117 "Baron Koylass" xsd:string [Term] id: EFO:0009916 name: ATP binding cassette subfamily B member 6 synonym: "ATP binding cassette subfamily B member 6 (Langereis blood group)" EXACT [] synonym: "ATP-binding cassette half-transporter" EXACT [] synonym: "EST45597" EXACT [] synonym: "MTABC3" EXACT [] synonym: "umat" EXACT [] xref: OMIM:605452 xref: Orphanet:291794 xref: Reactome:Q9NP58 is_a: CHEBI:36080 ! protein property_value: definition:citation Ensembl:ENSG00000115657 xsd:string property_value: definition:citation Genatlas:ABCB6 xsd:string property_value: definition:citation HGNC:47 xsd:string property_value: definition:citation SwissProt:Q9NP58 xsd:string property_value: IAO:0000117 "Baron Koylass" xsd:string [Term] id: EFO:0009917 name: ICR/HaJ def: "ICR/HaJ is a mouse strain as described in Jackson Laboratory strain index. This inbred strain is derived from the outbred strain ICR. It may be useful in therapeutic drug testing and genetic analysis of carcinogen-induced colon cancer." [] synonym: "ICR" EXACT [] is_a: NCBITaxon:10090 ! Mus musculus property_value: definition:citation https://www.jax.org/strain/009122 xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009918 name: smFISH def: "Single-molecule RNA FISH is a method for detecting individual RNA molecules within cells with short fluorescent labelled oligonucleotide probes via fluorescence microscopy." [] synonym: "single-molecule in situ hybridization" EXACT [] xref: PMID:18806792 xref: PMID:9554849 is_a: EFO:0001457 ! RNA assay is_a: OBI:0001686 ! in-situ hybridization assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009919 name: SPLiT-seq def: "Split-pool ligation-based transcriptome sequencing (SPLiT-seq) is a single-cell RNA-seq method that labels the cellular origin of RNA through combinatorial barcoding." [] synonym: "split-pool ligation-based transcriptome sequencing" EXACT [] xref: PMID:29545511 is_a: EFO:0001457 ! RNA assay is_a: EFO:0010183 ! single cell library construction property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009920 name: Slide-seq def: "A method for transferring RNA from tissue sections onto a surface covered in DNA-barcoded beads with known positions, allowing the locations of the RNA to be inferred by sequencing." [] xref: PMID:29545511 is_a: EFO:0010183 ! single cell library construction is_a: EFO:0030005 ! spatial transcriptomics by high-throughput sequencing property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009921 name: obsolete_10x 5' v3 def: "10X 5' v3 is the third version of the 10x sequencing technology that sequences from the 5' end of nucleic acid molecules." [] synonym: "10X 5' v3" EXACT [] synonym: "10x 5' v3 sequencing" RELATED [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.31.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Concept does not exist at time of writing; method is covered by EFO_0011025, see https://github.com/EBISPOT/efo/issues/1091." xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0011025 [Term] id: EFO:0009922 name: 10x 3' v3 def: "10X 3' v3 is the third version of the 10x sequencing technology that sequences from the 3' end of nucleic acid molecules." [] synonym: "10X 3' v3" EXACT [] synonym: "10x 3' v3 sequencing" RELATED [] synonym: "10X v3" RELATED [] synonym: "10x v3" RELATED [] synonym: "10X v3 sequencing" RELATED [] synonym: "10x v3 sequencing" RELATED [] synonym: "10XV3" RELATED [] is_a: EFO:0030003 ! 10x 3' transcription profiling property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009923 name: Peptic ulcer and gastro-oesophageal reflux disease (GORD) drug use measurement def: "Quantification of some aspect of the use of drugs for peptic ulcer and gastro-oesophageal reflux disease (GORD)." [] xref: PMID:31015401 is_a: EFO:0007010 ! drug use measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009924 name: Drugs used in diabetes use measurement def: "Quantification of some aspect of the use of drugs used in diabetes." [] xref: PMID:31015401 is_a: EFO:0007010 ! drug use measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009925 name: Antithrombotic agent use measurement def: "Quantification of some aspect of the use of antithrombotic agents." [] xref: PMID:31015401 is_a: EFO:0007010 ! drug use measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009926 name: Vasodilators used in cardiac diseases use measurement def: "Quantification of some aspect of the use of vasodilators used in cardiac diseases." [] xref: PMID:31015401 is_a: EFO:0007010 ! drug use measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009927 name: Antihypertensive use measurement def: "Quantification of some aspect of the use of antihypertensives." [] xref: PMID:31015401 is_a: EFO:0007010 ! drug use measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009928 name: Diuretic use measurement def: "Quantification of some aspect of the use of diuretic drugs." [] xref: PMID:31015401 is_a: EFO:0007010 ! drug use measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009929 name: Beta blocking agent use measurement def: "Quantification of some aspect of the use of beta blocking agents." [] xref: PMID:31015401 is_a: EFO:0007010 ! drug use measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009930 name: Calcium channel blocker use measurement def: "Quantification of some aspect of the use of calcium channel blockers." [] xref: PMID:31015401 is_a: EFO:0007010 ! drug use measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009931 name: Agents acting on the renin-angiotensin system use measurement def: "Quantification of some aspect of the use of agents acting on the renin-angiotensin system." [] xref: PMID:31015401 is_a: EFO:0007010 ! drug use measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009932 name: HMG CoA reductase inhibitor use measurement def: "Quantification of some aspect of the use of HMG CoA reductase inhibitors." [] xref: PMID:31015401 is_a: EFO:0007010 ! drug use measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009933 name: Thyroid preparation use measurement def: "Quantification of some aspect of the use of thyroid preparations." [] xref: PMID:31015401 is_a: EFO:0007010 ! drug use measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009934 name: Immunosuppressant use measurement def: "Quantification of some aspect of the use of immunosuppressant drugs." [] xref: PMID:31015401 is_a: EFO:0007010 ! drug use measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009935 name: Non-steroidal anti-inflammatory and antirheumatic product use measurement def: "Quantification of some aspect of the use of non-steroidal anti-inflammatory and antirheumatic product." [] xref: PMID:31015401 is_a: EFO:0007012 ! NSAID use measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009936 name: Drugs affecting bone structure and mineralization use measurement def: "Quantification of some aspect of the use of drugs affecting bone structure and mineralization." [] xref: PMID:31015401 is_a: EFO:0007010 ! drug use measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009937 name: Opioid use measurement def: "Quantification of some aspect of the use of opioid drugs." [] xref: PMID:31015401 is_a: EFO:0007010 ! drug use measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009938 name: Anilide use measurement def: "Quantification of some aspect of the use of anilide drugs." [] xref: PMID:31015401 is_a: EFO:0007010 ! drug use measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009939 name: Antimigraine preparation use measurement def: "Quantification of some aspect of the use of antimigraine preparations." [] xref: PMID:31015401 is_a: EFO:0007010 ! drug use measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009940 name: Antidepressant use measurement def: "Quantification of some aspect of the use of antidepressant drugs." [] xref: PMID:31015401 is_a: EFO:0007010 ! drug use measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009941 name: Inhalant adrenergic use measurement def: "Quantification of some aspect of the use of inhalant adrenergic drugs." [] xref: PMID:31015401 is_a: EFO:0007010 ! drug use measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009942 name: Glucocorticoid use measurement def: "Quantification of some aspect of the use of glucocorticoids." [] xref: PMID:31015401 is_a: EFO:0007010 ! drug use measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009943 name: Antihistamine use measurement def: "Quantification of some aspect of the use of antihistamines." [] xref: PMID:31015401 is_a: EFO:0007010 ! drug use measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009944 name: Antiglaucoma preparations and miotics use measurement def: "Quantification of some aspect of the use of antiglaucoma preparations and miotics." [] xref: PMID:31015401 is_a: EFO:0007010 ! drug use measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009945 name: psychological resilience measurement def: "Quantification of the degree to which an individual is resilient to psychological stress, typically assessed via a questionnaire or clinical review of an individual's mental health before and after a stressful life event." [] xref: PMID:31081985 is_a: EFO:0006848 ! mental or behavioural disorder biomarker is_a: EFO:0009095 ! psychological measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009946 name: low density lipoprotein triglyceride measurement def: "A quantification of triglycerides contained in low density lipoproteins." [] synonym: "LDL triglyceride measurement" EXACT [] xref: PMID:30685440 is_a: EFO:0004530 ! triglyceride measurement is_a: EFO:0004732 ! lipoprotein measurement is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 CHEBI:17855 ! is_about triglyceride relationship: IAO:0000136 CHEBI:39026 ! is_about low-density lipoprotein relationship: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0009947 name: nucleoside diphosphate kinase A measurement def: "A quantification of the amount of nucleoside diphosphate kinase A in a sample." [] synonym: "NDK A measurement" EXACT [] synonym: "NDP kinase A measurement" EXACT [] synonym: "NM23 measurement" EXACT [] synonym: "NME1 measurement" EXACT [] xref: PMID:30662464 is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 EFO:0000182 ! is_about hepatocellular carcinoma relationship: IAO:0000136 UBERON:0002107 ! is_about liver property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0009948 name: chorioamnionitis def: "A morphologic finding indicating inflammation of the fetal sac membranes. It is characterized by neutrophilic infiltration of the amnion and chorion." [] synonym: "fetal membrane inflammation" EXACT [] synonym: "inflammation of fetal membrane" EXACT [] synonym: "intra-amniotic infection" EXACT [] xref: DOID:0050697 xref: https://en.wikipedia.org/wiki/Chorioamnionitis xref: MedDRA:10008755 xref: MONDO:0000409 xref: PMID:30674050 is_a: EFO:0009950 ! disease of extraembryonic membrane property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0009949 name: KANNO antigen measurement def: "Quantification of some aspect of the red cell antigen KANNO." [] xref: PMID:31020675 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009950 name: disease of extraembryonic membrane def: "A disease or disorder that involves the extraembryonic membrane." [MONDO:patterns/location] synonym: "disease of extraembryonic membrane" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of extraembryonic membrane" EXACT [] synonym: "disorder of extraembryonic membrane" EXACT [MONDO:patterns/location_top] synonym: "disorder of extraembryonic membrane" EXACT [] {comment="preferred label from MONDO"} synonym: "extraembryonic membrane disease" EXACT [] synonym: "extraembryonic membrane disease or disorder" EXACT [MONDO:patterns/location] xref: MONDO:0045013 xref: SCTID:609522002 {source="MONDO:equivalentTo"} xref: UMLS:C3662139 {source="MONDO:equivalentTo"} is_a: EFO:0007441 ! placenta disease property_value: exactMatch http://identifiers.org/snomedct/609522002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3662139 [Term] id: EFO:0009951 name: response to surgery def: "Any process that results in a change in state or activity of a cell or an organism as a result of surgical intervention." [] synonym: "post operative response" EXACT [] synonym: "post-operative response" EXACT [] synonym: "response to operation" EXACT [] synonym: "response to surgical intervention" EXACT [] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009952 name: post-operative atrial fibrillation def: "Atrial fibrillation that occurs after surgery." [] synonym: "post operative atrial fibrillation" EXACT [] xref: PMID:30678657 is_a: EFO:0003777 ! heart disease is_a: EFO:0005323 ! post-operative sign or symptom property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009953 name: post-operative myocardial infarction def: "Myocardial infarction that occurs after surgery." [] synonym: "post operative myocardial infarction" EXACT [] xref: PMID:30678657 is_a: EFO:0003777 ! heart disease is_a: EFO:0005323 ! post-operative sign or symptom property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009954 name: post-operative delirium def: "Delirium that occurs after surgery." [] synonym: "post operative delirium" EXACT [] xref: PMID:30678657 is_a: EFO:0005323 ! post-operative sign or symptom is_a: EFO:0009386 ! central nervous system disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009955 name: post-operative acute kidney injury def: "Acute kidney failure that occurs after surgery." [] synonym: "post operative acute kidney failure" EXACT [] synonym: "post operative acute kidney injury" EXACT [] synonym: "post operative acute renal failure" EXACT [] synonym: "post-operative acute kidney failure" EXACT [] synonym: "post-operative acute renal failure" EXACT [] xref: PMID:30678657 is_a: EFO:0003086 ! kidney disease is_a: EFO:0005323 ! post-operative sign or symptom property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009956 name: post-operative stroke def: "Stroke that occurs after surgery." [] synonym: "post operative stroke" EXACT [] xref: PMID:30678657 is_a: EFO:0005323 ! post-operative sign or symptom is_a: EFO:0009386 ! central nervous system disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009958 name: response to bisphosphonate def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a bisphosphonate stimulus. Bisphosphonates are a class of drug which inhibit bone resorption, used to prevent the loss of bone density in osteoporosis and similar diseases." [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009959 name: diverticular disease def: "A complex disorder characterised by mucosal outpouchings (diverticulae) of the colonic wall which can become infected and inflamed leading to diverticulitis, perforation and bleeding." [] xref: MedDRA:10013534 is_a: EFO:0009431 ! intestinal disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0009960 name: atypical femoral fracture def: "Stress or insufficency fractures occurring in the femoral shaft, typically in response to long-term antiresorptive treatment. The term 'atypical' refers to the deviant transverse pattern on the fracture-line on radiographs of the affected femur." [] synonym: "bisphosphonate-related proximal femoral fracture" EXACT [] is_a: EFO:0009512 ! lower extremity fracture property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0009961 name: Insulinogenic index measurement def: "Measure of first-phase insulin response to glucose challenge." [] xref: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3083884/ xref: PMID:23263489 is_a: EFO:0004467 ! insulin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0009962 name: response to radioiodine def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a radioiodine stimulus. Radioiodine may refer to any isotope of the element iodine that undergoes radioactive decay. Some radioactive iodine isotopes are used to treat diseases of the thyroid." [] synonym: "response to radioactive iodine" EXACT [] is_a: GO:0009314 ! response to radiation property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0009963 name: bipolar I disorder def: "A bipolar disorder that is characterized by at least one manic or mixed episode." [] xref: DOID:14042 xref: MedDRA:10004939 xref: MedDRA:10068455 xref: PMID:31043756 is_a: MONDO:0004985 ! bipolar disorder property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009964 name: bipolar II disorder def: "A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes." [] xref: DOID:0060166 xref: MedDRA:10004940 xref: PMID:31043756 is_a: MONDO:0004985 ! bipolar disorder property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009965 name: Schizoaffective disorder-bipolar type def: "A schizoaffective disorder that is distinguished by symptoms of mania, hypomania, or mixed episode." [] xref: https://en.wikipedia.org/wiki/Schizoaffective_disorder xref: PMID:31043756 is_a: EFO:0005411 ! schizoaffective disorder property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0009966 name: assay by long read sequencer def: "An assay which uses long read sequencing technology to determine the sequence of nucleic acids" [] is_a: EFO:0003740 ! assay by sequencer relationship: RO:0000057 EFO:0009989 ! has_participant long read sequencer property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009967 name: ligation-mediated chromosome conformation capture assay def: "Chromosome conformation capture assays that involve the cross-linking of chromatin, DNA digestion, and proximity ligation of adjacent fragments." [] is_a: EFO:0007688 ! chromosome conformation capture assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009968 name: ligation-free chromosome conformation capture assay def: "Chromosome conformation capture assays that assay the 3-dimensional organization and interaction of chromatin without a proximity ligation step." [] is_a: EFO:0007688 ! chromosome conformation capture assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009969 name: 2-stage Repli-seq def: "2-stage repli-seq is a type of repli-seq assay that compares nascent DNA sequencing profiles between two stages, early and late replicating DNA." [] is_a: EFO:0008889 ! Repli-Seq property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009970 name: multi-stage Repli-seq def: "Multi-stage repli-seq is a type of repli-seq assay that compares nascent DNA sequencing profiles of many different replication time points." [] is_a: EFO:0008889 ! Repli-Seq property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009971 name: TSA-seq def: "TSA-seq is an assay that uses tyramide signal amplification (TSA) to assess distance of DNA regions to a targeted nuclear compartment or protein, typically on a scale of 100-1000 nm." [] is_a: EFO:0001456 ! DNA assay is_a: EFO:0002697 ! assay by high throughput sequencer relationship: RO:0000057 EFO:0002699 ! has_participant high throughput sequencer property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009972 name: NAD-seq def: "NAD-seq is an assay in which nucleoli are isolated and the DNA associated with them is sequenced to identify nucleoli-associating domains." [] is_a: EFO:0001456 ! DNA assay is_a: EFO:0002697 ! assay by high throughput sequencer relationship: RO:0000057 EFO:0002699 ! has_participant high throughput sequencer property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009973 name: CUT&RUN def: "CUT&RUN stands for cleavage under targets and release using nuclease and is a method for assessing DNA-protein interactions. It involves incubating samples with an antibody against a specific target, typically a transcription factor or a chromatin modification or regulator. Next protein A-conjugated micrococcal nuclease is added to cleave DNA on either side of the target. The remaining protein-DNA complexes are isolated and high-throughput sequencing is performed on the DNA. The experimental purpose is similar to ChIP-seq but has been observed to result in lower background." [] is_a: EFO:0001456 ! DNA assay is_a: EFO:0002697 ! assay by high throughput sequencer relationship: RO:0000057 EFO:0002699 ! has_participant high throughput sequencer property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009974 name: in situ HiC def: "A version of the Hi-C assay in which nuclei are not disrupted prior to the ligation step but instead digestion and ligation of DNA fragments is performed in intact nuclei." [] is_a: EFO:0002697 ! assay by high throughput sequencer is_a: EFO:0007693 ! Hi-C relationship: RO:0000057 EFO:0002699 ! has_participant high throughput sequencer property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009975 name: dilution HiC def: "A Hi-C assay in which cells and their nuclei are lysed during the digestion step, and the solution is then diluted many fold to limit the possibility of two non-crosslinked DNA fragments being ligated by chance." [] is_a: EFO:0002697 ! assay by high throughput sequencer is_a: EFO:0007693 ! Hi-C relationship: RO:0000057 EFO:0002699 ! has_participant high throughput sequencer property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009976 name: DNase Hi-C def: "DNase Hi-C is a Hi-C assay in which DNase I is used for digesting DNA fragments rather than a restriction enzyme, which can result in a higher resolution of mapped chromosome contacts." [] is_a: EFO:0002697 ! assay by high throughput sequencer is_a: EFO:0007693 ! Hi-C relationship: RO:0000057 EFO:0002699 ! has_participant high throughput sequencer property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009977 name: sci-Hi-C def: "sci-Hi-C stands for single-cell combinatorial indexed Hi-C, and is a Hi-C assay performed on massively multiplexed single-cell samples." [] is_a: EFO:0002697 ! assay by high throughput sequencer is_a: EFO:0007693 ! Hi-C relationship: RO:0000057 EFO:0002699 ! has_participant high throughput sequencer property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009978 name: sn-Hi-C def: "sn-Hi-C stands for single nucleus Hi-C and is a Hi-C assay performed on isolated nuclei." [] is_a: EFO:0002697 ! assay by high throughput sequencer is_a: EFO:0007693 ! Hi-C relationship: RO:0000057 EFO:0002699 ! has_participant high throughput sequencer property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009979 name: single cell Hi-C def: "A single cell Hi-C assay." [] is_a: EFO:0002697 ! assay by high throughput sequencer is_a: EFO:0007693 ! Hi-C is_a: EFO:0010183 ! single cell library construction relationship: RO:0000057 EFO:0002699 ! has_participant high throughput sequencer property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009980 name: MC-Hi-C def: "A multi-contact chromosome conformation capture assay in which DNA is not sheared after proximity ligation so that long read sequencing can be performed on reads with multiple ligated fragments." [] synonym: "MC-3C" EXACT [] is_a: EFO:0007693 ! Hi-C relationship: RO:0000057 EFO:0009989 ! has_participant long read sequencer property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009981 name: PLAC-seq def: "PLAC-seq (proximity ligation-assisted ChIP-seq) is similar to a Hi-C assay, but following proximity ligation, immunoprecipitation is performed using an antibody to a transcription factor or histone modification. This results in a Hi-C library enriched for a specific DNA-protein interaction. This procedure differs from ChIA-PET in that the proximity ligation step is performed prior to chromatin shearing and immunoprecipitation." [] is_a: EFO:0005032 ! IP-seq is_a: EFO:0009967 ! ligation-mediated chromosome conformation capture assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009982 name: Trac-Loop def: "Trac-loop (transposase-mediated analysis of chromatin looping) is an assay designed to detect interacting genomic regions. Rather than the traditional Hi-C approach of digestion and proximity ligation, the procedure involves transposase-mediated insertion of an oligonucleotide linker between the pair of interacting regions." [] is_a: EFO:0002697 ! assay by high throughput sequencer is_a: EFO:0009968 ! ligation-free chromosome conformation capture assay relationship: RO:0000057 EFO:0002699 ! has_participant high throughput sequencer property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009983 name: MC-4C def: "MC-4C is a multi-contact 4C experiment. After proximity ligation and target region amplification, multiple DNA fragments may be ligated together, and rather than shearing into smaller pieces for short read library preparation, the DNA is isolated and long read sequencing is performed." [] is_a: EFO:0007690 ! 4C property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009984 name: SPRITE def: "SPRITE (split-pool recognition of interactions and tag extension) is an assay designed to detect multi-way interactions between nucleic acids. The procedure involves crosslinking nuclei, and then splitting the lysate among wells in a 96-well or other multi-well plate. A different barcode is ligated to the fragments in each well, and the lysates are pooled together again. This sequence of splitting, tagging, and re-combining is repeated several times so that fragments with the same sequences of barcodes represent fragments that have co-associated throughout the experiment. Finally, a sequencing library is constructed and high-throughput sequencing is performed." [] is_a: EFO:0002697 ! assay by high throughput sequencer is_a: EFO:0009968 ! ligation-free chromosome conformation capture assay relationship: RO:0000057 EFO:0002699 ! has_participant high throughput sequencer property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009985 name: DNA SPRITE def: "DNA SPRITE is a SPRITE experiment that only assays interactions between regions of genomic DNA." [] is_a: EFO:0009984 ! SPRITE property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009986 name: RNA-DNA SPRITE def: "RNA-DNA SPRITE is a type of SPRITE experiment in which RNA in the cross-linked complexes is converted to cDNA before the initial splitting step, allowing analysis of RNA-DNA interactions." [] is_a: EFO:0001457 ! RNA assay is_a: EFO:0009984 ! SPRITE property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009987 name: GAM def: "Genome architecture mapping (GAM) is an assay designed to analyze 3D chromatin structure without relying on digestion and ligation. The procedure involves cryosectioning samples in random orientation, and then single nuclear profiles are isolated by laser microdissection. Each nuclear profile then undergoes high-throughput sequencing, and subsequent analysis can generate a matrix of inferred proximity between genomic regions." [] is_a: EFO:0002697 ! assay by high throughput sequencer is_a: EFO:0009968 ! ligation-free chromosome conformation capture assay relationship: RO:0000057 EFO:0002699 ! has_participant high throughput sequencer property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009988 name: MARGI def: "MARGI is a method for probing RNA-DNA interactions in the nucleus. Nuclei are crosslinked, and RNA fragments are ligated to proximal DNA fragments via a special linker molecule. After reverse transcription, high-throughput sequencing is performed." [] is_a: EFO:0001456 ! DNA assay is_a: EFO:0001457 ! RNA assay is_a: EFO:0002697 ! assay by high throughput sequencer relationship: RO:0000057 EFO:0002699 ! has_participant high throughput sequencer property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009989 name: long read sequencer def: "A sequencing instrument which supports the sequencing of single DNA molecules that are considerably longer than those resulting from traditional short-read sequencing." [] is_a: EFO:0003739 ! sequencer created_by: Dani Welter [Term] id: EFO:0009990 name: Fluidigm C1 microfluidics platform def: "The Fluidigm C1 is a microfluidic platform for single-cell RNA-Seq and DNA-Seq library preparation. Cell suspensions are added to the integrated fluidic circuit which shuttles individual cells into microfluidic chambers which are flooded with reagents in order to carry out library construction in very small volumes." [] is_a: EFO:0000548 ! instrument created_by: Dani Welter [Term] id: EFO:0009991 name: Nuc-Seq def: "Nuc-Seq is an RNA sequencing technique optimized for isolating and sequencing nuclear RNA from frozen tissue samples" [] xref: PMID:26890679 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009992 name: Bubble-Seq def: "Bubble-Seq prepares libraries of restriction fragments that contain replication initiation sites (bubbles) in vivo" [] xref: PMID:23861383 is_a: EFO:0001456 ! DNA assay is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009993 name: ChIP-BMS def: "Direct, quantitative approach to assess DNA methylation patterns associated with chromatin modifications or chromatin-associated factors. The ChIP-capturing step is used to obtain a restricted representation of the genome occupied by the epigenetic feature of interest. The captured DNA fragments are subjected to end-repair, adapter ligation using methylated adapters, bisulfite conversion, PCR amplification, and NGS." [] synonym: "Chromatin immunoprecipitation with bisulfite methylation sequencing assay" EXACT [] xref: PMID:21913084 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009994 name: scABA-seq def: "Detect 5hmC marks in single cells with AbaSI nuclease" [] xref: PMID:27347753 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009995 name: UMI-4C def: "This variation on the 4C approach uses UMIs to derive high-complexity quantitative chromosome contact profiles with controlled signal-to-noise ratios" [] xref: PMID:27376768 is_a: EFO:0007690 ! 4C property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009996 name: ddMDA def: "Microfluidic digital droplet MDA (ddMDA) technique where partitioning of the template DNA into thousands of sub-nanoliter droplets, each containing a small number of DNA fragments, greatly reduces the competition among DNA fragments for primers and polymerase thereby greatly reducing amplification bias" [] synonym: "digital droplet MDA" EXACT [] xref: PMID:27144304 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009997 name: EpiRADSeq def: "Double digest restriction-site associated DNA marker generation with a methylation-sensitive restriction enzyme " [] is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009998 name: eCLIP def: "eCLIP maps the binding sites of RBPs on their target RNAs using a modified individual nucleotide resolution CLIP (iCLIP) protocol, improving efficiency and decreasing execution complexity " [] synonym: "enhanced cross-linking immunoprecipiation" EXACT [] xref: PMID:27018577 is_a: EFO:0001457 ! RNA assay is_a: EFO:0005032 ! IP-seq property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0009999 name: G&T-Seq def: "G&T-Seq can separate and sequence genomic DNA and full-length mRNA from single cells" [] synonym: "Genome & transcriptome sequencing" EXACT [] xref: PMID:25915121 is_a: EFO:0001456 ! DNA assay is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010000 name: JBP1-seq def: "J-binding protein 1 sequencing is a method for genome-wide profiling of 5-hydroxy-methylcytosine (5hmC)" [] synonym: "J-Binding Protein 1 Sequencing" EXACT [] xref: PMID:25218799 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010001 name: MAB-seq def: "MAB-seq allows simultaneous and quantitative mapping of both 5fC and 5caC at single-base resolution" [] synonym: "M.SssI methylase-assisted bisulfite sequencing " EXACT [] xref: PMID:25362244 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010002 name: RRMAB-seq def: "Adapted version of MAB-seq that is based on the pretreatment of gDNA with the enzyme MspI, which recognizes and cuts the CCGG consensus to enrich CpG-rich regions, like gene promoters " [] synonym: "Reduced representation M.SssI methylase-assisted bisulfite sequencing" EXACT [] xref: PMID:25660018 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010003 name: RASL-seq def: "RNA-mediated oligonucleotide annealing, selection, and ligation with next-generation sequencing (RASL-Seq) is a 2-dimensional RNA sequencing method to quantify expression profiles of several hundred genes, under thousands of different conditions" [] synonym: "RNA-mediated oligonucleotide annealing, selection, and ligation sequencing " EXACT [] xref: PMID:22470064 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010004 name: SCRB-seq def: "SCRB-Seq is a cost-efficient, multiplexed, single-cell mRNA sequencing technique." [] synonym: "Single cell RNA barcoding and sequencing" EXACT [] is_a: EFO:0001457 ! RNA assay is_a: EFO:0010183 ! single cell library construction property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010005 name: DR-Seq def: "DR-Seq studies the genomic and transcriptomic relationship in single cells. Nucleic acid amplification prior to physical separation reduces sample loss and the risk of contamination. DR-Seq involves multiple amplification steps, including a quasilinear amplification technique similar to MALBAC." [] synonym: "DNA-mRNA sequencing" EXACT [] xref: PMID:25599178 is_a: EFO:0001456 ! DNA assay is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010006 name: scM&T-seq def: "scM&T-Seq allows parallel analysis of both epigenetic and gene expression patterns from single cells using Smart-seq2 and scBS-seq. scM&T-Seq is built upon G&T-seq, but instead of using MDA for DNA sequencing, it uses scBS-Seq to determine DNA methylation patterns." [] synonym: "Single-Cell Methylome and Transcriptome Sequencing" EXACT [] xref: PMID:26752769 is_a: EFO:0001456 ! DNA assay is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010007 name: scTrio-seq def: "scTrio-Seq can analyze genomic CNVs, the DNA methylome, and the transcriptome of an individual mammalian cell simultaneousl. This approach is an extension of previous methods, such as scMT-seq" [] synonym: "Single-cell triple omics sequencing" EXACT [] xref: PMID:26902283 is_a: EFO:0001456 ! DNA assay is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010008 name: irCLIP def: "irCLIP maps protein-RNA interaction sites using less sample material, time, and increased cDNA library quality compared to previous CLIP methods. irCLIP was designed to tackle the issues in both iCLIP and HITS-CLIP, such as reverse-transcriptase halting and short cDNA library fragments, by using on-bead nuclease digestion." [] synonym: "UV-C crosslinking and immunoprecipitation" EXACT [] xref: PMID:27111506 is_a: EFO:0001457 ! RNA assay is_a: EFO:0005032 ! IP-seq property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010009 name: pVAC-Seq def: "A genome-guided in silico approach to identifying tumor neoantigens (pVAC-Seq)" [] xref: PMID:26825632 is_a: OBI:0000070 ! assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010010 name: CEL-seq2 def: "A modified version of CEL-Seq with higher sensitivity." [] xref: PMID:27121950 is_a: EFO:0001457 ! RNA assay is_a: EFO:0010183 ! single cell library construction property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010011 name: HiChIP def: "A protein-centric chromatin conformation method (HiChIP)" [] xref: PMID:27643841 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010012 name: ADPr-ChAP def: "ADP-ribose-specific chromatin-affinity purification (ADPr-ChAP)" [] xref: PMID:28837130 is_a: OBI:0000070 ! assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010013 name: ATAC-see def: "Assay of transposase-accessible chromatin with visualization (ATAC-see)" [] xref: PMID:27749837 is_a: OBI:0000070 ! assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010014 name: Omni-ATAC def: "ATAC profiles from archival frozen tissue samples and 50-micrometer sections." [] xref: PMID:28846090 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010015 name: SCTG def: "Genomic & transcriptomic analysis of the same single cell after ENU mutagenesis" [] xref: PMID:25733965 is_a: EFO:0001456 ! DNA assay is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010016 name: HiRes-Seq def: "High-resolution RNA-seq to assess noncoded base substitutions in mRNA (HiRes-Seq)" [] xref: PMID:23925128 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010017 name: HTGTS-Rep-seq def: "unbiased, sensitive, and readily accessible assay to quantify antibody repertoires" [] synonym: "high-throughput genome-wide translocation sequencing-adapted repertoire sequencing" EXACT [] xref: PMID:27354528 is_a: EFO:0030014 ! bulk immune repertoire sequencing property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010018 name: 2OMe-seq def: "High-throughput single-base resolution mapping of RNA 2-O-methylated residues" [] xref: PMID:28180324 is_a: OBI:0000070 ! assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010019 name: m6A-LAIC-seq def: "Sequencing approach to assess how many transcript copies of particular genes are N(6)-Methyladenosine (m(6)A) modified ('m(6)A levels') or the relationship of m(6)A modification(s) to alternative RNA isoforms. N(6)-Methyladenosine (m(6)A) is a widespread, reversible chemical modification of RNA molecules, implicated in many aspects of RNA metabolism. " [] synonym: "m(6)A-level and isoform-characterization sequencing" EXACT [] xref: PMID:27376769 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010020 name: AGO HITS-CLIP def: "Map miRNA binding to AGO sites in C. elegans" [] xref: PMID:19536157 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010021 name: miniARS-seq def: "Minimal functional regions of ARS" [] xref: PMID:23241746 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010022 name: Smart-3Seq def: "Method that accurately quantifies transcript abundance even with small amounts of total RNA and effectively characterizes small samples extracted by laser-capture microdissection (LCM) from FFPE tissue. Modified 3Seq method - omitted poly (A) enrichment and replaced dsDNA ligation with template-switching cDNA synthesis" [] synonym: "Smart-seq3" EXACT [https://doi.org/10.1101/2022.02.14.480352, https://orcid.org/0000-0002-6583-8504] is_a: EFO:0001457 ! RNA assay is_a: EFO:0010184 ! Smart-like property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010023 name: PELE-Seq def: "Wet-lab protocol and variant-calling method that identifies both sequencing and PCR errors" [] synonym: "Paired-End Low Error Sequencing" EXACT [] xref: PMID:27301885 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010024 name: AGO-PAR-CLIP def: "PAR-CLIP on Argonaute Proteins" [] xref: PMID:22926237 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010025 name: PASP def: "Whole-transcriptome approach to measure the lengths of poly(A) tails, including a computational pipeline implementing all necessary analyses. PASP uses direct Illumina sequencing of cDNA fragments obtained through G-tailing of poly(A)-selected mRNA followed by fragmentation and reverse transcription." [] synonym: "Poly (A) tail sequencing protocol" EXACT [] is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010026 name: RESA-CLIP def: "Method using RESA libraries to map RNA-protein interactions." [] xref: PMID:28024160 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010027 name: RESA def: "Method that selects RNA elements based on their activity in vivo and uses high-throughput sequencing to provide quantitative measurement of their regulatory function with near nucleotide resolution" [] synonym: "RNA-element selection assay" EXACT [] xref: PMID:28024160 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010028 name: STAP-seq def: "Method to determine the responsiveness of genomic sequences to enhancers" [] synonym: "Self-transcribing active core promoter sequencing " EXACT [] xref: PMID:28024147 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010029 name: SPLASH def: "High-throughput approach that maps pairwise RNA interactions in vivo with high sensitivity and specificity, genome-wide" [] synonym: "Sequencing of psoralen crosslinked, ligated, and selected hybrids" EXACT [] xref: PMID:27184079 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010030 name: CRISPR-UMI def: "Single-cell lineage tracing of pooled CRISPR?Cas9 screens" [] xref: PMID:29039415 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010031 name: BAsE-Seq def: "Method for obtaining long haplotypes, of over 3 kb in length, using a short-read sequencer," [] synonym: "Barcode-directed Assembly for Extra-long Sequences" EXACT [] xref: PMID:25406369 is_a: OBI:0000070 ! assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010032 name: EasyMF def: "SupF shuttle vector-based mutagenesis assay." [] xref: PMID:27122023 is_a: OBI:0000070 ! assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010033 name: RSMA def: "Methylation-sensitive PCR analysis for the analysis of DNA methylation patterns in single cells" [] synonym: "restriction enzyme-based single-cell methylation assay" EXACT [] xref: PMID:21266484 is_a: OBI:0000070 ! assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010034 name: Cappable-Seq def: "Method for directly enriching for the 5' end of primary transcripts and enabling determination of transcription start sites at single base resolution. This is achieved by enzymatically modifying the 5' triphosphorylated end of RNA with a selectable tag." [] xref: PMID:26951544 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010035 name: Frac-Seq def: "Approach that combines subcellular fractionation and high throughput RNA sequencing to assay partitioning of mRNA isoforms between the cytosolic and the polyribosome-associated fractions" [] synonym: "FRACtionation and high throughput RNA SEQuencing" EXACT [] xref: PMID:23783272 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010036 name: HITS-KIN def: "Method to measure functional binding of C5 to all possible sequence variants in its substrate binding site, using a high-throughput sequencing kinetics approach that simultaneously follows processing of thousands of RNA species" [] synonym: "High Throughput Sequencing Kinetics" EXACT [] xref: PMID:24056935 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010037 name: INTACT def: "Method for cell type-specific RNA and chromatin profiling that circumvents many of the limitations of current methods for cell isolation." [] synonym: "Isolation of Nuclei TAgged in specific Cell Types" EXACT [] xref: PMID:20627084 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010038 name: Mu-Seq def: "high-throughput NextGen sequencing method for harnessing high-copy transposons" [] synonym: "Mutant-seq" EXACT [] xref: PMID:24194867 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010039 name: mutARS-Seq def: "Deep mutational scanning approach coupled with high-throughput sequencing to test the functional consequences of all single substitution mutations on a given ARS in a massively parallel fashion" [] xref: PMID:23241746 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010040 name: Nano-hmC-Seal def: "Highly sensitive and selective chemical labeling and capture approach for genome-wide profiling of 5-hydroxylmethylcytosine (5hmC) using DNA isolated from about 1,000 cells." [] xref: PMID:27477909 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010041 name: Nascent-Seq def: "Approach to isolate nascent RNA and subject samples to high-throughput seuqencing to asses cotranscriptional A-to-I editing" [] synonym: "nascent sequencing" EXACT [] xref: PMID:22658416 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010042 name: Ren-Seq def: "NB-LRR (nucleotide binding-site leucine-rich repeat) gene-targeted, Resistance gene enrichment and sequencing method that enables discovery and annotation of pathogen resistance gene family members in plant genome sequences" [] synonym: "resistance gene enrichment sequencing" EXACT [] xref: PMID:23937694 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010043 name: Stable-Seq def: "Method that uses a simple genetic selection combined with high-throughput DNA sequencing to assess the in vivo stability of a large number of variants of a protein" [] xref: PMID:23897579 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010044 name: STARR-Seq def: "Method that measures the strength of enhancers genome-wide, giving insight into the organization of the regulatory genome." [] synonym: "self-transcribing active regulatory region sequencing" EXACT [] xref: PMID:23328393 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010045 name: Start-seq def: "Small capped RNA sequencing, also referred to as Start-seq, captures short 5'-capped RNAs (TSS-RNAs) that are produced by Pol II during early transcription elongation." [] synonym: "small capped RNA sequencing" EXACT [] xref: PMID:20007866 is_a: EFO:0001457 ! RNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010046 name: TAm-Seq def: "tagged-amplicon deep sequencing" [] xref: PMID:22649089 is_a: EFO:0001456 ! DNA assay property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010047 name: assay by Fluidigm C1 microfluidics platform def: "An assay which uses the Fluidigm C1 for single-cell RNA-Seq and DNA-Seq library preparation" [] is_a: EFO:0002773 ! assay by instrument relationship: RO:0000057 EFO:0009990 ! has_participant Fluidigm C1 microfluidics platform property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010048 name: Fluidigm C1-based dissociation def: "Dissociation of a sample into individual cells using the Fluidigm C1 platform. Cells are captured on the C1 system (Fluidigm) and processed using the SMARTer chemistry (Clontech) according to the Fluidigm protocol" [] is_a: OBI:0000512 ! isolation of cell population relationship: RO:0000057 EFO:0009990 ! has_participant Fluidigm C1 microfluidics platform property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010049 name: asthma symptoms measurement def: "Quantification of some aspect of asthma symptoms." [] xref: PMID:30367910 is_a: EFO:0006841 ! respiratory disease biomarker relationship: IAO:0000136 MONDO:0004979 ! is_about asthma property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010050 name: thyroglobulin measurement def: "Quantification of the amount of the thyroglobulin in a sample." [] xref: http://purl.obolibrary.org/obo/NCIT_C103446 xref: PMID:30929638 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010051 name: response to immunosuppressant def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an immunosuppressive drug stimulus. Immunosuppressive drugs are a class of drugs that suppress, or reduce, the strength of the body's immune system, for example to make the body less likely to reject a transplanted organ." [] synonym: "response to immunosuppressive agent" EXACT [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010052 name: response to tacrolimus def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result a tacrolimus stimulus." [] is_a: EFO:0010051 ! response to immunosuppressant relationship: OBI:0000293 CHEBI:61057 ! has_input tacrolimus hydrate property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010053 name: response to cyclosporine def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result a cyclosporine stimulus." [] is_a: EFO:0010051 ! response to immunosuppressant relationship: OBI:0000293 CHEBI:4031 ! has_input cyclosporin A property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010054 name: response to mycophenolic acid def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result a mycophenolic acid stimulus." [] synonym: "response to mycophenolate" EXACT [] is_a: EFO:0010051 ! response to immunosuppressant relationship: OBI:0000293 CHEBI:62932 ! has_input mycophenolate property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010055 name: response to calcineurin inhibitor def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcineurin inhibitor stimulus." [] is_a: EFO:0010051 ! response to immunosuppressant property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010056 name: liver iron measurement def: "Quantification of the amount of iron in the liver." [] xref: PMID:31226389 is_a: EFO:0004461 ! iron biomarker measurement is_a: EFO:0006845 ! liver disease biomarker relationship: IAO:0000136 EFO:0001421 ! is_about liver disease relationship: IAO:0000136 UBERON:0002107 ! is_about liver property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010057 name: vascular cell adhesion molecule-1 measurement def: "Quantification of the amount of soluble vascular cell adhesion molecule-1 in a sample" [] synonym: "soluble vascular cell adhesion molecule-1 measurement" EXACT [] synonym: "sVCAM-1 measurement" EXACT [] synonym: "VCAM-1 measurement" EXACT [] synonym: "VCAM1 measurement" EXACT [] xref: PMID:31217265 xref: Wikipedia:VCAM-1 is_a: EFO:0004522 ! adhesion molecule measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010058 name: Fluidigm C1-based library preparation def: "Dissociation of a sample into individual cells using the Fluidigm C1 platform. Cells are captured on the C1 system (Fluidigm) and processed using the SMARTer chemistry (Clontech) according to the Fluidigm protocol." [] is_a: EFO:0010183 ! single cell library construction relationship: RO:0000057 EFO:0009990 ! has_participant Fluidigm C1 microfluidics platform property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:0010059 name: cerebral microbleeds def: "Cerebral microbleeds are a group of pathological processes affecting the small arteries, arterioles, capillaries and venules of the brain, as detected by brain imaging techniques. They can be detected in the normal aging population as well as in patients with cerebrovascular disease and are associated with increased risk of dementia and stroke." [] is_a: HP:0100659 ! Abnormal cerebral vascular morphology property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010060 name: chronic human papillomavirus infection def: "Chronic form of human papillomavirus infection." [] synonym: "Chronic HPV infection" EXACT [] xref: PMID:30092369 is_a: EFO:0001668 ! human papilloma virus infection is_a: EFO:0009714 ! chronic disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010062 name: response to salmeterol def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with salmeterol, a beta-adrenergic agonist used in the treatment of respiratory diseases" [] is_a: GO:0009410 ! response to xenobiotic stimulus relationship: OBI:0000293 CHEBI:9011 ! has_input salmeterol property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010063 name: Therapeutic Procedure def: "An action or administration of therapeutic agents to produce an effect that is intended to alter or stop a pathologic process." [] xref: NCIt:C49236 is_a: EFO:0002571 ! medical procedure [Term] id: EFO:0010064 name: Pharmacotherapy def: "Treatment of disease through the use of drugs." [] xref: NCIt:C15986 is_a: EFO:0010063 ! Therapeutic Procedure [Term] id: EFO:0010065 name: response to intravenous immunoglobulin therapy def: "The administration of a blood product derived from pooled IgG antibodies extracted from donor plasma delivered intravenously. It is used to treat multiple disorders, including immunodeficiencies, autoimmune disorders, and active infections." [] synonym: "IVIG" EXACT [] xref: NCIt:C121331 is_a: EFO:0010064 ! Pharmacotherapy relationship: OBI:0000293 EFO:0005030 ! has_input anti-IgG property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010066 name: corneal hysteresis def: "A measure of the biomechanical properties of the cornea. Low corneal hysteresis may be indicative of keratoconus." [] xref: PMID:31246245 is_a: EFO:0004731 ! eye measurement relationship: IAO:0000136 UBERON:0000964 ! is_about cornea property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010067 name: corneal resistance factor def: "A measure of the biomechanical properties of the cornea. Low corneal resistance factor may be indicative of keratoconus." [] xref: PMID:31246245 is_a: EFO:0004731 ! eye measurement relationship: IAO:0000136 UBERON:0000964 ! is_about cornea property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010068 name: respiratory symptom change measurement def: "Quantification of the rate of change in respiratory symptoms of an individual over the course of time (either through clinical examination or through a standardised questionnaire), used as an indicator of improvement or decay of respiratory function." [] xref: PMID:31299468 is_a: EFO:0006841 ! respiratory disease biomarker relationship: IAO:0000136 EFO:0000684 ! is_about respiratory system disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010069 name: nerve conduction velocity def: "Quantification of the velocity of nerve conduction, often used to measure peripheral nerve function." [] xref: PMID:30992453 is_a: EFO:0010082 ! nerve conduction measurement relationship: IAO:0000136 UBERON:6003559 ! is_about insect adult nervous system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010070 name: nerve conduction amplitude def: "Quantification of the amplitude of nerve conduction, often used to measure peripheral nerve function." [] xref: PMID:30992453 is_a: EFO:0010082 ! nerve conduction measurement relationship: IAO:0000136 UBERON:6003559 ! is_about insect adult nervous system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010071 name: cardiac troponin I measurement def: "Quantification of cardiac troponin I, typically measured in blood. Cardiac troponin I measurements are used as a marker of cardiac muscle damage and used in the diagnosis of myocardial infarction." [] xref: PMID:31014085 is_a: EFO:0004311 ! heart function measurement relationship: IAO:0000136 EFO:0003777 ! is_about heart disease relationship: IAO:0000136 UBERON:0000948 ! is_about heart property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010072 name: toothache def: "A painful sensation originating from a tooth." [] synonym: "dental pain" EXACT [] xref: MedDRA:10044055 is_a: EFO:0003843 ! pain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010073 name: number of teeth measurement def: "Quantification of the number of natural teeth an individual has" [] xref: PMID:31235808 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 UBERON:0001091 ! is_about calcareous tooth property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010074 name: trochanter size def: "Quantification of the size of the femoral trochanter." [] synonym: "femoral trochanter size" EXACT [] xref: PMID:31053729 is_a: EFO:0004844 ! hip bone size relationship: IAO:0000136 UBERON:0000980 ! is_about trochanter property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010075 name: intertrochanteric region size def: "Quantification of the size of the intertrochanteric region of the femur." [] xref: PMID:31053730 is_a: EFO:0004844 ! hip bone size relationship: IAO:0000136 UBERON:0000981 ! is_about femur property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010076 name: femoral neck size def: "Quantification of the size of the femoral neck." [] xref: PMID:31053731 is_a: EFO:0004844 ! hip bone size relationship: IAO:0000136 UBERON:0000981 ! is_about femur property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010077 name: response to belimumab def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a belimumab stimulus. Belimumab is a human monoclonal antibody that inhibits B-cell activating factor (BAFF), primarily used to treat sysmteic lupus erythematosus" [] synonym: "response to Benlysta" EXACT [] synonym: "response to LymphoStat-B" EXACT [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010078 name: dentures def: "Dentures (also known as false teeth) are prosthetic devices constructed to replace missing teeth, and are supported by the surrounding soft and hard tissues of the oral cavity. Conventional dentures are removable (removable partial denture or complete denture). However, there are many denture designs, some which rely on bonding or clasping onto teeth or dental implants (fixed prosthodontics)." [] synonym: "false teeth" EXACT [] xref: https://en.wikipedia.org/wiki/Dentures is_a: EFO:0002571 ! medical procedure property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010079 name: corneal endothelial cell measurement def: "Quantification of some aspect of corneal endothelial cells, such as their size, shape or density." [] xref: PMID:30894546 is_a: EFO:0004731 ! eye measurement relationship: IAO:0000136 UBERON:0001985 ! is_about corneal endothelium property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010080 name: geographic atrophy lesion growth def: "Quantification of the growth of geographic atrophy lesions, a symptom of late-stage age-related macular degeneration." [] xref: PMID:31120506 is_a: EFO:0008375 ! macula measurement relationship: IAO:0000136 EFO:0001365 ! is_about age-related macular degeneration relationship: IAO:0000136 UBERON:0000966 ! is_about retina property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010081 name: Afp-GFP def: "Afp-GFP is a strain of mouse described by Kwon et al. as: Tg(Afp‐GFP) mice (hereafter termed Afp‐GFP) that express green fluorescent protein (GFP) specifically within the visceral endoderm, its derivative the yolk sac endoderm, hepatocytes of the fetal liver, and the epithelium of the fetal gut and pancreas." [] synonym: "Tg(Afp-GFP)" EXACT [] xref: PMID:16708394 xref: PMID:30959515 is_a: NCBITaxon:10090 ! Mus musculus property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0010082 name: nerve conduction measurement def: "Quantification of any aspect of the act of transmitting electricty along a nerve." [] xref: PMID:30992453 is_a: EFO:0005052 ! nervous system measurement relationship: IAO:0000136 UBERON:6003559 ! is_about insect adult nervous system property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010083 name: dentate gyrus volume measurement def: "Quantification of the volume of the dentate gyrus." [] xref: PMID:31155012 xref: Wikipedia:Dentate_gyrus is_a: EFO:0005035 ! hippocampal volume relationship: IAO:0000136 UBERON:0001885 ! is_about dentate gyrus of hippocampal formation property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010084 name: anti-meningococcal C IgG measurement def: "Quantification of the IgG antibody isotype produced in response to meningococcal C exposure." [] xref: PMID:31189108 is_a: EFO:0004565 ! serum IgG measurement is_a: EFO:0006843 ! infectious disease biomarker relationship: IAO:0000136 EFO:0004249 ! is_about meningococcal infection property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010085 name: anti-tetanus toxoid IgG measurement def: "Quantification of the IgG antibody isotype produced in response to tetanus toxoid exposure." [] xref: PMID:31189108 is_a: EFO:0004565 ! serum IgG measurement is_a: EFO:0006843 ! infectious disease biomarker relationship: IAO:0000136 EFO:0005593 ! is_about tetanus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010086 name: anti-Haemophilus influenzae type b polyribosylribitol phosphate IgG measurement def: "Quantification of the IgG antibody isotype produced in response to Haemophilus influenzae type b polyribosylribitol phosphate exposure." [] xref: PMID:31189108 is_a: EFO:0004565 ! serum IgG measurement is_a: EFO:0006843 ! infectious disease biomarker relationship: IAO:0000136 EFO:1000955 ! is_about Haemophilus influenzae meningitis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010087 name: anti-meningococcal C serum bactericidal antibody measurement def: "Quantification of serum bactericidal antibody produced in response to meningococcal C exposure." [] xref: PMID:31189108 is_a: EFO:0004556 ! antibody measurement is_a: EFO:0006843 ! infectious disease biomarker relationship: IAO:0000136 EFO:0004249 ! is_about meningococcal infection property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010088 name: beverage consumption measurement def: "Quantification of some beverage consumption or beverage consumption-related behaviour, usually self-reported via a questionnaire." [] xref: PMID:31046077 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010089 name: bitter beverage consumption measurement def: "Quantification of some bitter beverage consumption or bitter beverage consumption-related behaviour, usually self-reported via a questionnaire." [] xref: PMID:31046077 is_a: EFO:0010088 ! beverage consumption measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010090 name: sweet beverage consumption measurement def: "Quantification of some sweet beverage consumption or sweet beverage consumption-related behaviour, usually self-reported via a questionnaire." [] xref: PMID:31046077 is_a: EFO:0010088 ! beverage consumption measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010091 name: tea consumption measurement def: "Quantification of some tea consumption or tea consumption-related behaviour, usually self-reported via a questionnaire." [] xref: PMID:31046077 is_a: EFO:0010089 ! bitter beverage consumption measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010092 name: bitter alcoholic beverage consumption measurement def: "Quantification of some bitter alcoholic beverage consumption or bitter alcoholic beverage consumption-related behaviour, usually self-reported via a questionnaire." [] xref: PMID:31046077 is_a: EFO:0010089 ! bitter beverage consumption measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010093 name: bitter non-alcoholic beverage consumption measurement def: "Quantification of some bitter non-alcoholic beverage consumption or bitter non-alcoholic beverage consumption-related behaviour, usually self-reported via a questionnaire." [] xref: PMID:31046077 is_a: EFO:0010089 ! bitter beverage consumption measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010094 name: grapefruit juice consumption measurement def: "Quantification of some grapefruit juice consumption or grapefruit juice consumption-related behaviour, usually self-reported via a questionnaire." [] xref: PMID:31046077 is_a: EFO:0010089 ! bitter beverage consumption measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010095 name: non-grapefruit juice consumption measurement def: "Quantification of some non-grapefruit juice consumption or non-grapefruit juice consumption-related behaviour, usually self-reported via a questionnaire." [] xref: PMID:31046077 is_a: EFO:0010090 ! sweet beverage consumption measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010096 name: artificially sweetened beverage consumption measurement def: "Quantification of some artificially sweetened beverage consumption or artificially sweetened beverage consumption-related behaviour, usually self-reported via a questionnaire." [] xref: PMID:31046077 is_a: EFO:0010090 ! sweet beverage consumption measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010097 name: sugar sweetened beverage consumption measurement def: "Quantification of some sugar sweetened beverage consumption or sugar sweetened beverage consumption-related behaviour, usually self-reported via a questionnaire." [] xref: PMID:31046077 is_a: EFO:0010090 ! sweet beverage consumption measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010098 name: stress-related disorder def: "Stress-related disorders are mental health disorders that are a result of an atypical response to both short and long-term anxiety due to physical, mental, or emotional stress." [] xref: Wikipedia:Stress-related_disorders is_a: EFO:0000677 ! mental or behavioural disorder property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010099 name: chronic widespread pain def: "Chronic pain that is felt all over the body." [] is_a: HP:0012532 ! Chronic pain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010100 name: multisite chronic pain def: "A chronic pain phenotype that is defined as the number of sites on the body at which chronic pain is experienced." [] is_a: HP:0012532 ! Chronic pain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010101 name: decreased susceptibility to hepatitis C infection def: "Reduced likelihood of being infected by the hepatitis C virus despite exposure." [] is_a: HP:0002715 ! Abnormality of the immune system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010102 name: peginterferon alfa-2a def: "A covalent conjugate of recombinant interferon alfa, subtype 2a, and polyethylene glycol (PEG), used as an antiviral and antineoplastic agent. The biological activity of this agent is derived from its interferon alpha-2a protein moiety. Interferons alfa bind to specific cell-surface receptors, leading to the transcription and translation of genes whose protein products mediate antiviral, antiproliferative, anticancer and immune-modulating effects. The PEG moiety lowers the clearance of interferon alpha-2a, thereby extending the duration of its therapeutic effects, but may also reduce interferon-mediated stimulation of an immune response." [] xref: NCIt:C33987 is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:35610 ! antineoplastic agent [Term] id: EFO:0010103 name: response to peginterferon alfa-2a def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an peginterferon alfa-2a stimulus." [] is_a: EFO:0007859 ! response to interferon relationship: IAO:0000136 EFO:0010102 ! is_about peginterferon alfa-2a property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010104 name: health literacy measurement def: "A measurement of the degree to which individuals have the capacity to obtain, process, and understand basic health information and services needed to make appropriate health decisions." [] xref: PMID:31250787 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010105 name: CD4-positive T-lymphocyte count def: "A quantification of CD4-positive T-lymphocytes in blood." [] xref: PMID:20045101 is_a: EFO:0004587 ! lymphocyte count property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010106 name: CD3-positive T-lymphocyte count def: "A quantification of CD3-positive T-lymphocytes in blood." [] xref: PMID:20045101 is_a: EFO:0004587 ! lymphocyte count property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010107 name: CD8-positive T-lymphocyte count def: "A quantification of CD8-positive T-lymphocytes in blood." [] xref: PMID:20045101 is_a: EFO:0004587 ! lymphocyte count property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010108 name: CD19-positive B-lymphocyte count def: "A quantification of CD19-positive B-lymphocytes in blood." [] xref: PMID:20045101 is_a: EFO:0004587 ! lymphocyte count property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010109 name: CD56-positive NK-lymphocyte cell count def: "A quantification of CD56-positive NK-lymphocytes in blood." [] xref: PMID:20045101 is_a: EFO:0004587 ! lymphocyte count property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010110 name: ketone body measurement def: "A quantification of ketone bodies in a sample." [] xref: PMID:31367044 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010111 name: acetoacetate measurement def: "A quantification of acetoacetate in a sample." [] xref: PMID:31367044 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0010110 ! ketone body measurement relationship: IAO:0000136 CHEBI:13705 ! is_about acetoacetate property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010112 name: acetate measurement def: "A quantification of acetate in a sample." [] xref: PMID:31367044 is_a: EFO:0010110 ! ketone body measurement relationship: IAO:0000136 CHEBI:30089 ! is_about acetate property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010113 name: 3-hydroxybutyric acid measurement def: "A quantification of 3-hydroxybutyric acid in a sample." [] synonym: "beta-hydroxybutyric acid measurement" EXACT [] xref: PMID:31367044 is_a: EFO:0010110 ! ketone body measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010114 name: citrate measurement def: "A quantification of citrate in a sample." [] xref: PMID:31367044 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010115 name: glycerol measurement def: "A quantification of glycerol in a sample." [] xref: PMID:31367044 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 CHEBI:17754 ! is_about glycerol property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010116 name: choline measurement def: "A quantification of choline in a sample." [] xref: PMID:31367044 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 CHEBI:15354 ! is_about choline property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010117 name: pyruvate measurement def: "A quantification of pyruvate in a sample." [] xref: PMID:31367044 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 CHEBI:15361 ! is_about pyruvate property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010118 name: sphingomyelin measurement def: "A quantification of sphingomyeline in a sample." [] xref: PMID:31367044 is_a: EFO:0004622 ! sphingolipid measurement is_a: EFO:0010968 ! phosphate measurement relationship: IAO:0000136 CHEBI:17636 ! is_about sphingomyelin d18:1 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010119 name: omega-3 polyunsaturated fatty acid measurement def: "A quantification of omega-3 fatty acid in a sample." [] synonym: "Omega-3 fatty acid measurement" EXACT [] xref: PMID:31367044 is_a: EFO:0005110 ! fatty acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010120 name: fasting blood glucose change measurement def: "A quantification of the change in fasting blood glucose measurements at different points in time." [] xref: PMID:31263163 is_a: EFO:0004465 ! fasting blood glucose measurement relationship: IAO:0000136 CHEBI:17234 ! is_about glucose relationship: IAO:0000136 MONDO:0005148 ! is_about type 2 diabetes mellitus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010123 name: response to antiviral drug def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antiviral drug stimulus. Antiviral drugs are a class of medication used specifically for treating viral infections." [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010124 name: response to atorvastatin def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an atorvastatin stimulus. Atorvastatin is a statin used as a cholesterol-lowering and anti-cardiovascular disease drug." [] is_a: GO:0036273 ! response to statin relationship: OBI:0000293 CHEBI:39548 ! has_input atorvastatin property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010125 name: viral load def: "A measurement of the quantity of virus in a given volume of body fluid." [] synonym: "viral burden" EXACT [] synonym: "viral titer" EXACT [] synonym: "viral titre" EXACT [] xref: https://en.wikipedia.org/wiki/Viral_load xref: MedDRA:10062178 xref: PMID:31260374 is_a: EFO:0006843 ! infectious disease biomarker relationship: IAO:0000136 EFO:0000544 ! is_about infection relationship: IAO:0000136 EFO:0000763 ! is_about viral disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010126 name: time to first cigarette measurement def: "Quantification of how soon after waking up an individual smokes their first cigarette of the day." [] xref: PMID:31294817 is_a: EFO:0005671 ! smoking behaviour measurement is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0003768 ! is_about nicotine dependence relationship: IAO:0000136 EFO:0004318 ! is_about smoking behavior property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010127 name: serum immunoglobulin measurement def: "Quantification of the amount of immunglobulin in a serum sample." [] xref: PMID:28628107 is_a: EFO:0004556 ! antibody measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010128 name: immunoglobulin isotype switching measurement def: "Quantification of the switching of activated B cells from IgM biosynthesis to biosynthesis of other isotypes of immunoglobulin." [] xref: PMID:28628107 is_a: EFO:0004556 ! antibody measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010129 name: breakfast skipping measurement def: "Quantification of the frequency which an individual omits to eat breakfast. Breakfast skipping is often considered as a sub-clinical eating disorder." [] xref: PMID:31190057 is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 EFO:0005203 ! is_about eating disorder relationship: IAO:0000136 EFO:0007829 ! is_about eating behaviour property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010130 name: health study participation def: "Characteristic of an individual defined by their participation in a health study, e.g. by volunteering for or completing specific surveys, questionnaires or tasks." [] synonym: "health questionnaire participation" EXACT [] synonym: "health survey participation" EXACT [] is_a: EFO:0000651 ! phenotype property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010131 name: decreased walking ability def: "A decrease in an individual's ability to walk." [] is_a: HP:0012638 ! Abnormal nervous system physiology property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010132 name: decreased fine motor function def: "A decrease in an individual's ability to perform fine motor function tasks." [] is_a: HP:0012638 ! Abnormal nervous system physiology property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010133 name: diabetic maculopathy def: "Diabetic maculopathy (DM) is a type of diabetic retinopathy and it is a major eye complication and visual impairment amongst people with diabetes. It is a condition that affects the macula, a highly sensitive region located centrally on the retina which is responsible for sharp, clear, and accurate colour vision." [] synonym: "DM" EXACT [] xref: MedDRA:10081695 xref: PMID:31264924 is_a: EFO:0003770 ! diabetic retinopathy property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010134 name: kidney transplant def: "A surgical procedure in which one or both kidneys from a donor are implanted into a recipient." [] is_a: EFO:0002571 ! medical procedure property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010135 name: urine specific gravity measurement def: "Quantification of the concentration of particles in the urine." [] xref: CMO:0000257 xref: PMID:30476138 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010136 name: urinary pH measurement def: "Quantification of pH of an organism, typically in urine or blood. This measures the degree of acidity or alkalinity." [] xref: PMID:30476138 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010137 name: leukocyte esterase measurement def: "Quantification of the amount of leukocyte esterase present in a sample." [] xref: NCIt:C64856 xref: PMID:30476138 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010138 name: nitrite measurement def: "Quantification of the amount of nitrite present in a sample." [] xref: NCIt:C64810 xref: PMID:30476138 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010139 name: fish consumption measurement def: "Quantification of some fish consumption or fish consumption-related behaviour, usually self-reported via a questionnaire." [] synonym: "fish intake measurement" EXACT [] xref: PMID:31320941 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010140 name: opioid overdose severity measurement def: "Quantification of the frequency and severity of overdoses as a result of opioid drug use in a person's lifetime." [] xref: PMID:31362332 is_a: EFO:0006848 ! mental or behavioural disorder biomarker is_a: EFO:0009937 ! Opioid use measurement relationship: IAO:0000136 CHEBI:35482 ! is_about opioid analgesic relationship: IAO:0000136 EFO:0005611 ! is_about opioid dependence property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010141 name: sexual behavior def: "Sexual behaviour is a process by which humans and other animals demonstrate and/or express sexuality." [] xref: PMID:31467194 is_a: GO:0007610 ! behavior property_value: IAO:0000117 "Maria Cerezo" xsd:string [Term] id: EFO:0010142 name: same-sex sexual behavior def: "Same-sex sexual behaviour is a process by which humans demonstrate and/or express sexuality with individuals of same sex." [] xref: PMID:31467194 is_a: EFO:0010141 ! sexual behavior property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Maria Cerezo" xsd:string [Term] id: EFO:0010143 name: chronic mountain sickness def: "A pathological condition resulting from chronic exposure to hypoxia at high altitude. The syndrome is characterized by an excessive number of red blood cells associated with a high blood hemoglobin concentration ([Hb]), hypoxemia, and, in some cases, pulmonary hypertension. Clinical signs include headache, fatigue, sleep disturbances, dyspnea, digestive complaints, and high risk of thrombotic events." [] synonym: "Monge's disease" EXACT [] xref: http://purl.obolibrary.org/obo/MONDO_0014519 xref: MedDRA:10009006 xref: PMID:31417607 xref: Wikipedia:Chronic_mountain_sickness is_a: EFO:1000782 ! altitude sickness property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010144 name: frontal lobe volume measurement def: "Quantification of the volume of the frontal lobe of the brain." [] xref: PMID:31396565 is_a: EFO:0006930 ! brain volume measurement relationship: IAO:0000136 UBERON:0016525 ! is_about frontal lobe property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010145 name: occipital lobe volume measurement def: "Quantification of the volume of the occipital lobe of the brain." [] xref: PMID:31396565 is_a: EFO:0006930 ! brain volume measurement relationship: IAO:0000136 UBERON:0002021 ! is_about occipital lobe property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010146 name: parietal lobe volume measurement def: "Quantification of the volume of the parietal lobe of the brain." [] xref: PMID:31396565 is_a: EFO:0006930 ! brain volume measurement relationship: IAO:0000136 UBERON:0001872 ! is_about parietal lobe property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010147 name: temporal lobe volume measurement def: "Quantification of the volume of the temporal lobe of the brain." [] xref: PMID:31396565 is_a: EFO:0006930 ! brain volume measurement relationship: IAO:0000136 UBERON:0001871 ! is_about temporal lobe property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010148 name: pepsinogen-I measurement def: "Quantification of the amount of pepsinogen-I in a sample" [] xref: PMID:30753327 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010149 name: pepsinogen I/II ratio def: "Quantification of the ratio of pepsinogen I to pepsinogen II in a sample" [] xref: PMID:30753327 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010150 name: anti-anoctamin 2 antibody measurement def: "Quantification of antibodies against anoctamin 2." [] synonym: "anti-ANO2 antibody" EXACT [] xref: PMID:31375628 is_a: EFO:0004556 ! antibody measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010151 name: soluble triggering receptor expressed on myeloid cells 2 measurement def: "Quantification of the amount of soluble TREM2 (triggering receptor expressed on myeloid cells 2) protein in a sample. Cerebrospinal fluid sTREM2 is used as a biomarker of disease pathogenesis in Alzheimer's disease." [] synonym: "sTREM2 measurement" EXACT [] xref: PMID:31413141 is_a: EFO:0004747 ! protein measurement is_a: EFO:0006514 ! Alzheimer's disease biomarker measurement relationship: IAO:0000136 MONDO:0004975 ! is_about Alzheimer disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010152 name: response to phenylephrine def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a phenylephrine stimulus" [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010154 name: platinum measurement def: "Quantification of platinum in a sample." [] xref: PMID:31296530 is_a: EFO:0007574 ! blood toxic metal measurement relationship: IAO:0000136 CHEBI:33364 ! is_about platinum property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010155 name: taste liking measurement def: "Quantification of an individual's appreciation of a taste." [] xref: PMID:31005972 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Maria Cerezo" xsd:string [Term] id: EFO:0010156 name: sweet liking measurement def: "Quantification of an individual's appreciation of sweet." [] xref: PMID:31005972 is_a: EFO:0010155 ! taste liking measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Maria Cerezo" xsd:string [Term] id: EFO:0010157 name: sucrose liking measurement def: "Quantification of an individual's appreciation of sucrose." [] xref: PMID:31005972 is_a: EFO:0010156 ! sweet liking measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Maria Cerezo" xsd:string [Term] id: EFO:0010158 name: sugar consumption measurement def: "Quantification of some aspect of sugar consumption such as frequency or quantity." [] synonym: "sugar intake measurement" EXACT [] xref: PMID:31005972 is_a: EFO:0007829 ! eating behaviour is_a: EFO:0008111 ! diet measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Maria Cerezo" xsd:string [Term] id: EFO:0010161 name: carbonic anhydrase 2 def: "Carbonic anhydrase II (gene name CA2), is one of sixteen forms of human alpha carbonic anhydrases. Carbonic anhydrase catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Renal carbonic anhydrase allows the reabsorption of bicarbonate ions in the proximal tubule. Loss of carbonic anhydrase activity in bones impairs the ability of osteoclasts to promote bone resorption, leading to osteopetrosis." [] synonym: "CA-II" EXACT [] synonym: "CAII" EXACT [] synonym: "Car2" EXACT [] xref: Wikipedia:Carbonic_anhydrase_II is_a: CHEBI:36080 ! protein property_value: IAO:0000117 "Baron Koylass" xsd:string [Term] id: EFO:0010162 name: death in childhood def: "Death in during childhood, defined here as between the ages of 2 and 10 years." [] xref: UMLS:C1843392 is_a: EFO:0004352 ! mortality is_a: EFO:0005056 ! age at death property_value: IAO:0000117 "Baron Koylass" xsd:string [Term] id: EFO:0010163 name: dilatation of the sinus of Valsalva def: "Abnormal outpouching or sac-like dilatation of one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve." [] synonym: "Aortic sinus aneurysm" EXACT [] xref: UMLS:C2239253 is_a: EFO:0004282 ! thoracic aortic aneurysm property_value: IAO:0000117 "Baron Koylass" xsd:string [Term] id: EFO:0010164 name: insulin-resistant diabetes mellitus def: "A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as will as in fasting and postprandial serum insulin levels." [] synonym: "insulin resistant diabetes" EXACT [] synonym: "insulin resistant diabetes mellitus" EXACT [] synonym: "insulin-resistant diabetes" EXACT [] xref: UMLS:C0854110 is_a: EFO:0000400 ! diabetes mellitus property_value: IAO:0000117 "Baron Koylass" xsd:string [Term] id: EFO:0010165 name: Osteomyelitis leading to amputation due to slow healing fractures xref: UMLS:C1864975 is_a: EFO:0003102 ! osteomyelitis property_value: IAO:0000117 "Baron Koylass" xsd:string [Term] id: EFO:0010166 name: Warburg-Cinotti syndrome def: "An autosomal dominant disease characterized by progressive corneal neovascularization, keloid formation, chronic skin ulcers, wasting of subcutaneous tissue, flexion contractures of the fingers, and acro-osteolysis." [] xref: OMIM:618175 is_a: EFO:0000508 ! genetic disorder property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010167 name: squalene synthase deficiency def: "An autosomal recessive disorder characterized by profound developmental delay, brain abnormalities, 2/3 syndactyly of the toes, facial dysmorphisms, low total and LDL-cholesterol, and abnormal urine organic acids." [] xref: OMIM:618156 is_a: EFO:0000508 ! genetic disorder property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010168 name: spondyloepiphyseal dysplasia, Kondo-Fu type def: "A disorder characterized by severely retarded growth, spondyloepiphyseal dysplasia, reduced bone mineral density, and markedly elevated plasma levels of various lysosomal enzymes. Additional features include pectus carinatum, kyphosis, a waddling gait, brachydactyly and dysmorphic facial features. SEDKF transmission pattern is consistent with autosomal recessive inheritance." [] synonym: "SED with elevated blood lysosomal enzymes" EXACT [] xref: OMIM:618392 is_a: Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010172 name: DNA library construction def: "A DNA library is constructed from DNA extracted from cells." [] is_a: OBI:0000711 ! library preparation property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0010173 name: oophorectomy def: "The surgical removal of an ovary or ovaries." [] synonym: "ovariectomy" EXACT [] is_a: OBI:0600005 ! collecting specimen from organism property_value: dc-creator orcid:0000-0002-3163-0115 xsd:string property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0010174 name: tonsillectomy def: "A surgical procedure in which both palatine tonsils are fully removed from the back of the throat." [] is_a: OBI:0600005 ! collecting specimen from organism property_value: dc-creator orcid:0000-0002-3163-0115 xsd:string property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0010175 name: EasySep cell separation def: "Cells are targeted for either removal (negative selection and depletion) or selection (positive selection) using antibody complexes directed to specific cell surface antigens. The antibody complexes link targeted cells to EasySep™ magnetic particles. Labeled cells are pulled to the sides of the tube when the sample is placed in an EasySep™ magnet. Magnetically labeled cells will remain in the tube while the untouched cells can be simply poured or pipetted off into a new tube." [] synonym: "EasySep live/dead separation" EXACT [] is_a: EFO:0009109 ! magnetic affinity cell sorting is_a: OBI:0000070 ! assay property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0010176 name: keratinocyte carcinoma def: "A skin cancer arising from the keratin-producing cells of the epidermis. The term encompasses both basal cell carcinoma and squamous cell carcinoma." [] synonym: "keratinocyte cancer" EXACT [] xref: PMID:31174203 is_a: EFO:0009260 ! non-melanoma skin carcinoma relationship: EFO:0000784 CL:0000312 ! has_disease_location keratinocyte property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010177 name: lobar intracerebral hemorrhage def: "An intracerebral hemorrhage occuring within the cerebral lobes, either in the cerebral cortex or in the cortical-subcortical junction." [] xref: PMID:31430377 is_a: EFO:0005669 ! intracerebral hemorrhage property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010178 name: non-lobar intracerebral hemorrhage def: "An intracerebral hemorrhage occuring outside of the cerebral lobes." [] xref: PMID:31430377 is_a: EFO:0005669 ! intracerebral hemorrhage property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010180 name: droplet-based cell isolation is_a: OBI:0000512 ! isolation of cell population property_value: dc-creator "Olamidipupo Ajigboye" xsd:string [Term] id: EFO:0010181 name: cell picking def: "A manual method to select live single cells from a cell suspension, tissue or whole organism." [] is_a: OBI:0000512 ! isolation of cell population property_value: http://www.ebi.ac.uk/efo/creator "Olamidipupo Ajigboye" xsd:string [Term] id: EFO:0010182 name: mouth pipetting def: "A method of using the researcher's mouth to apply small negative pressure to aspirate a volume into a pipette and then release it into a test tube. This technique can be used to isolate live single cells for single-cell analysis." [] synonym: "mouth pipette" RELATED [] is_a: OBI:0000512 ! isolation of cell population property_value: http://www.ebi.ac.uk/efo/creator "Olamidipupo Ajigboye" xsd:string property_value: seeAlso https://github.com/EBISPOT/efo/issues/934 xsd:string [Term] id: EFO:0010183 name: single cell library construction def: "A library preparation process that starts from a single cell." [] synonym: "single cell library preparation" EXACT [] synonym: "single-cell library construction" EXACT [] synonym: "single-cell library preparation" EXACT [] is_a: OBI:0000711 ! library preparation property_value: dc-creator "Olamidipupo Ajigboye" xsd:string [Term] id: EFO:0010184 name: Smart-like def: "Library construction method using the SMART (Switching Mechanism at the 5' end of the RNA Template) or SMARTer technology, producing full-length cDNA libraries." [] is_a: EFO:0010183 ! single cell library construction property_value: http://www.ebi.ac.uk/efo/creator "Olamidipupo Ajigboye" xsd:string [Term] id: EFO:0010185 name: single cell information is_a: IAO:0000030 ! information entity property_value: dc-creator "Olamidipupo Ajigboye" xsd:string [Term] id: EFO:0010186 name: single cell library information def: "Information about a single cell sequencing library." [] is_a: EFO:0010185 ! single cell information property_value: dc-creator "Olamidipupo Ajigboye" xsd:string [Term] id: EFO:0010187 name: end bias def: "The end of the nucleic acid molecule that is preferentially sequenced (bias in read distribution)." [] is_a: EFO:0010186 ! single cell library information property_value: dc-creator "Olamidipupo Ajigboye" xsd:string [Term] id: EFO:0010188 name: 3 prime tag def: "Sequencing is restricted to only a relatively short nucleotide sequence from the 3 prime end of the target molecule." [] is_a: EFO:0010187 ! end bias property_value: dc-creator "Olamidipupo Ajigboye" xsd:string [Term] id: EFO:0010189 name: 3 prime end bias def: "When a sequencing method preferentially captures the nucleic acids towards the 3 prime end of the targeted molecule." [] is_a: EFO:0010187 ! end bias property_value: dc-creator "Olamidipupo Ajigboye" xsd:string [Term] id: EFO:0010190 name: 5 prime tag def: "Sequencing is restricted to only a relatively short nucleotide sequence from the 5 prime end of the target molecule." [] is_a: EFO:0010187 ! end bias property_value: dc-creator "Olamidipupo Ajigboye" xsd:string [Term] id: EFO:0010191 name: 5 prime end bias def: "When a sequencing method preferentially captures the nucleic acids towards the 5 prime end of the targeted molecule." [] is_a: EFO:0010187 ! end bias property_value: dc-creator "Olamidipupo Ajigboye" xsd:string [Term] id: EFO:0010192 name: primer def: "An oligonucleotide used to start the reaction in a polymerase-chain reaction." [] synonym: "oligonucleotide primer" EXACT [] is_a: EFO:0010186 ! single cell library information property_value: dc-creator "Olamidipupo Ajigboye" xsd:string [Term] id: EFO:0010193 name: spike in def: "An RNA spike-in is an RNA transcript of known sequence and quantity used to calibrate measurements in RNA hybridization assays, such as DNA microarray experiments, RT-qPCR, and RNA-Seq." [] synonym: "RNA spike-in" EXACT [] is_a: EFO:0010186 ! single cell library information property_value: dc-creator "Olamidipupo Ajigboye" xsd:string [Term] id: EFO:0010194 name: barcode def: "A barcode is a short known DNA sequence that is added during the library preparation in order to identify the origin of the read during data analysis. This enables for example the pooling and simultaneous sequencing of different samples (\"multiplexing\")." [] synonym: "DNA barcode" EXACT [] is_a: EFO:0010186 ! single cell library information property_value: dc-creator "Olamidipupo Ajigboye" xsd:string [Term] id: EFO:0010195 name: cDNA read def: "The sequencing read that contains the cDNA read." [] is_a: EFO:0010186 ! single cell library information property_value: dc-creator "Olamidipupo Ajigboye" xsd:string [Term] id: EFO:0010196 name: inferred cell type def: "A cell type classification that is determined as result of a single-cell analysis, such as cell clustering or trajectory analysis." [] is_a: EFO:0000324 ! cell type is_a: EFO:0010185 ! single cell information property_value: dc-creator "Olamidipupo Ajigboye" xsd:string [Term] id: EFO:0010197 name: single cell identifier def: "A unique identifier for a single cell specimen." [] is_a: EFO:0010185 ! single cell information property_value: dc-creator "Olamidipupo Ajigboye" xsd:string [Term] id: EFO:0010198 name: cell barcode def: "A short nucleotide sequence that is added during a single cell library preparation to identify reads from an individual cell." [] is_a: EFO:0010194 ! barcode property_value: dc-creator "Olamidipupo Ajigboye" xsd:string [Term] id: EFO:0010199 name: UMI barcode def: "A unique molecular identifier (UMI) barcode is a short nucleotide sequence that is used to identify reads originating from an individual mRNA molecule." [] is_a: EFO:0010194 ! barcode property_value: dc-creator "Olamidipupo Ajigboye" xsd:string [Term] id: EFO:0010200 name: sample barcode def: "A short nucleotide sequence that is added during a single cell library preparation to identify reads from the same sample or library." [] is_a: EFO:0010194 ! barcode property_value: dc-creator "Olamidipupo Ajigboye" xsd:string [Term] id: EFO:0010201 name: cDNA read offset def: "The offset in the sequence where the cDNA read starts." [] is_a: EFO:0010751 ! nucleotide sequence offset property_value: dc-creator "Olamidipupo Ajigboye" xsd:string [Term] id: EFO:0010202 name: cDNA read size def: "The length of the cDNA read." [] is_a: EFO:0010752 ! nucleotide sequence size property_value: dc-creator "Olamidipupo Ajigboye" xsd:string [Term] id: EFO:0010203 name: cell barcode read def: "The sequencing read that contains the cell barcode." [] is_a: EFO:0010753 ! barcode read property_value: dc-creator "Olamidipupo Ajigboye" xsd:string [Term] id: EFO:0010204 name: cell barcode offset def: "The offset in the sequence where the cell barcode starts." [] is_a: EFO:0010754 ! barcode offset property_value: dc-creator "Olamidipupo Ajigboye" xsd:string [Term] id: EFO:0010205 name: cell barcode size def: "The length of the cell barcode." [] is_a: EFO:0010755 ! barcode size property_value: dc-creator "Olamidipupo Ajigboye" xsd:string [Term] id: EFO:0010207 name: UMI barcode offset def: "The offset in the sequence where the UMI barcode starts." [] is_a: EFO:0010754 ! barcode offset property_value: dc-creator "Olamidipupo Ajigboye" xsd:string [Term] id: EFO:0010208 name: UMI barcode read def: "The sequencing read that contains the UMI barcode." [] is_a: EFO:0010753 ! barcode read property_value: dc-creator "Olamidipupo Ajigboye" xsd:string [Term] id: EFO:0010209 name: UMI barcode size def: "The length of the UMI barcode." [] is_a: EFO:0010755 ! barcode size property_value: dc-creator "Olamidipupo Ajigboye" xsd:string [Term] id: EFO:0010210 name: sample barcode read def: "The sequencing read that contains the sample barcode." [] is_a: EFO:0010753 ! barcode read property_value: dc-creator "Olamidipupo Ajigboye" xsd:string [Term] id: EFO:0010211 name: sample barcode offset def: "The offset in the sequence where the sample barcode starts." [] is_a: EFO:0010754 ! barcode offset property_value: dc-creator "Olamidipupo Ajigboye" xsd:string [Term] id: EFO:0010212 name: sample barcode size def: "The length of the sample barcode." [] is_a: EFO:0010755 ! barcode size property_value: dc-creator "Olamidipupo Ajigboye" xsd:string [Term] id: EFO:0010213 name: single cell library construction protocol def: "A protocol describing the processes performed and equipment used to prepare a single cell nucleic acid sequencing library." [] is_a: EFO:0004184 ! nucleic acid library construction protocol property_value: dc-creator "Olamidipupo Ajigboye" xsd:string [Term] id: EFO:0010214 name: single cell isolation protocol def: "A protocol describing the equipment and procedure by which a single cell suspension is separated into individual cells in order to allow individual cell barcoding." [] is_a: OBI:0000272 ! protocol property_value: dc-creator "Olamidipupo Ajigboye" xsd:string [Term] id: EFO:0010215 name: oligo-dT def: "An oligonucleotide primer consisting of thymidine bases only. It is used to target messenger RNA molecules with poly-adenosine 3' end." [] synonym: "oligo-dT primer" EXACT [] is_a: EFO:0010192 ! primer property_value: dc-creator "Olamidipupo Ajigboye" xsd:string [Term] id: EFO:0010216 name: random def: "An oligonucleotide primer with random sequence." [] synonym: "oligonucleotide random primer" EXACT [] is_a: EFO:0010192 ! primer property_value: dc-creator "Olamidipupo Ajigboye" xsd:string [Term] id: EFO:0010217 name: spike in dilution def: "Dilution factor of the RNA spike-in." [] is_a: EFO:0010186 ! single cell library information property_value: dc-creator "Olamidipupo Ajigboye" xsd:string [Term] id: EFO:0010219 name: aldosterone measurement def: "Quantification of the level of aldosterone in a sample" [] xref: PMID:31169883 xref: Wikipedia:Aldosterone is_a: EFO:0004529 ! lipid measurement is_a: EFO:0004730 ! hormone measurement relationship: IAO:0000136 CHEBI:27584 ! is_about aldosterone property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010220 name: 17-hydroxyprogesterone measurement def: "Quantification of the amount of 17-hydroxyprogesterone in a sample" [] xref: PMID:31169883 xref: Wikipedia:17α-Hydroxyprogesterone is_a: EFO:0004529 ! lipid measurement is_a: EFO:0004730 ! hormone measurement relationship: IAO:0000136 CHEBI:17252 ! is_about 17alpha-hydroxyprogesterone property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010221 name: systemising measurement def: "Quantification of the drive to systemise, ie identifiy input-operation-output relationships in order to build, analyse or understand systems, typically quantified by administration of a standardised questionnaire such as the Systemising Quotient-Revised (SQ-R)" [] synonym: "systemizing measurement" EXACT [] xref: PMID:31508503 is_a: EFO:0006848 ! mental or behavioural disorder biomarker is_a: EFO:0007911 ! personality trait measurement relationship: IAO:0000136 EFO:0003756 ! is_about autism spectrum disorder property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010222 name: ceramide measurement def: "A quantification of ceramides." [] xref: PMID:31551469 is_a: EFO:0004622 ! sphingolipid measurement is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 CHEBI:17761 ! is_about ceramide relationship: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010223 name: diglyceride measurement def: "A quantification of diglycerides." [] synonym: "diacylglyceride measurement" EXACT [] xref: PMID:31551469 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 CHEBI:18035 ! is_about diglyceride relationship: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010224 name: lysophosphatidylcholine measurement def: "A quantification of lysophosphatidylcholines." [] xref: PMID:31551469 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0005278 ! cardiovascular disease biomarker measurement is_a: EFO:0010968 ! phosphate measurement relationship: IAO:0000136 CHEBI:60479 ! is_about lysophosphatidylcholine relationship: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010225 name: lysophosphatidylethanolamine measurement def: "A quantification of lysophosphatidylethanolamines." [] xref: PMID:31551469 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0005278 ! cardiovascular disease biomarker measurement is_a: EFO:0010968 ! phosphate measurement relationship: IAO:0000136 CHEBI:64574 ! is_about lysophosphatidylethanolamine relationship: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010226 name: phosphatidylcholine measurement def: "A quantification of phosphatidylcholines." [] xref: PMID:31551469 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 CHEBI:49183 ! is_about phosphatidylcholine(1+) relationship: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010227 name: phosphatidylcholine ether measurement def: "A quantification of phosphatidylcholine ethers." [] xref: PMID:31551469 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010228 name: phosphatidylethanolamine measurement def: "A quantification of phosphatidylethanolamines." [] xref: PMID:31551469 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0005278 ! cardiovascular disease biomarker measurement is_a: EFO:0010968 ! phosphate measurement relationship: IAO:0000136 CHEBI:16038 ! is_about phosphatidylethanolamine relationship: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010229 name: phosphatidylethanolamine ether measurement def: "A quantification of phosphatidylethanolamine ethers." [] xref: PMID:31551469 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010230 name: phosphatidylinositol measurement def: "A quantification of phosphatidylinositols." [] xref: PMID:31551469 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0005278 ! cardiovascular disease biomarker measurement is_a: EFO:0010968 ! phosphate measurement relationship: IAO:0000136 CHEBI:28874 ! is_about phosphatidylinositol relationship: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010231 name: sterol measurement def: "A quantification of sterols." [] xref: PMID:31551469 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 CHEBI:15889 ! is_about sterol relationship: IAO:0000136 EFO:0000319 ! is_about cardiovascular disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010232 name: osteocalcin measurement def: "Quantification of the amount of osteocalcin in a sample" [] synonym: "BGLAP measurement" EXACT [] synonym: "BGP measurement" EXACT [] synonym: "bone gamma-carboxyglutamic acid-containing protein measurement" EXACT [] xref: PMID:29875488 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 CL:0000062 ! is_about osteoblast property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010233 name: genotoxic compound exposure measurement def: "Quantification of some aspect of exposure to genotoxic compounds, i.e. compounds that may cause DNA damage." [] xref: PMID:31586183 is_a: EFO:0008360 ! environmental exposure measurement relationship: IAO:0000136 EFO:0000336 ! is_about chromosomal aberration relationship: IAO:0000136 MONDO:0004992 ! is_about cancer property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010234 name: viral subtype carrier status def: "Quantification of the presence or absence of a particular viral subtype in an individual." [] synonym: "virus type carrier status" EXACT [] xref: PMID:31341412 is_a: EFO:0007658 ! carrier status property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010235 name: response to proton-pump inhibitor def: "Any process that results in a change in state or activity of a cell or an organism as a result of a proton-pump inhibitor stimulus. Proton-pump inhibitors are a group of medications whose main action is a pronounced and long-lasting reduction of stomach acid production." [] is_a: GO:0009410 ! response to xenobiotic stimulus relationship: OBI:0000293 CHEBI:49200 ! has_input EC 3.6.3.10 (H(+)/K(+)-exchanging ATPase) inhibitor property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010238 name: perinatal disease def: "A condition affecting an unborn or newly born individual, where the perinatal period is defined in humans as commencing at 22 completed weeks (154 days) of gestation and ending seven completed days after birth. Other, broader definitions of perinatal period cover five months before birth to one month after birth." [https://www.who.int/maternal_child_adolescent/topics/maternal/maternal_perinatal/en/, NCIT:C35095, Wikipedia:Perinatal_mortality] subset: harrisons_view synonym: "perinatal condition" EXACT [] synonym: "perinatal disease" EXACT [] {comment="preferred label from MONDO"} synonym: "perinatal disorder" EXACT [NCIT:C35095] xref: https://www.who.int/maternal_child_adolescent/topics/maternal/maternal_perinatal/en/ xref: ICD10CM:P00-P96 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: MONDO:0100086 xref: NCIt:C35095 xref: Wikipedia:Perinatal_mortality is_a: EFO:0000408 ! disease property_value: dc-creator "paola" xsd:string property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/P00-P96 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: EFO:0010239 name: cortisol:DHEAS ratio measurement def: "Quantification of the ratio of cortisol to dehydroepiandrosterone (DHEA) in a sample." [] synonym: "cortisol:dehydroepiandrosterone sulfate ratio measurement" EXACT [] synonym: "cortisol:dehydroepiandrosterone sulphate ratio measurement" EXACT [] xref: PMID:23696881 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0004730 ! hormone measurement relationship: IAO:0000136 CHEBI:17650 ! is_about cortisol relationship: IAO:0000136 CHEBI:28689 ! is_about dehydroepiandrosterone property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010240 name: dehydroepiandrosterone measurement def: "Quantification of the amount of dehydroepiandrosterone (DHEA) in a sample." [] synonym: "DHEA measurement" EXACT [] xref: PMID:23696881 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0004730 ! hormone measurement relationship: IAO:0000136 CHEBI:28689 ! is_about dehydroepiandrosterone property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010241 name: galectin-3-binding protein measurement def: "Quantification of the amount of galectin-3-binding protein in a sample." [] synonym: "90K protein measurement" EXACT [] synonym: "mac-2-binding protein measurement" EXACT [] synonym: "tumor-asociated antigen 90K measurement" EXACT [] xref: PMID:23696881 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010242 name: beta globulin measurement def: "Quantification of the amount of beta globulin in a sample." [] xref: PMID:23696881 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010243 name: inorganic ion measurement def: "Quantification of the amount of an inorganic ion, such as magnesium, iron or calcium, in a sample" [] xref: PMID:23696881 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010244 name: uveal melanoma disease severity def: "Quantification of the degree of severity of uveal melanoma, eg by TNM staging" [] xref: PMID:31626034 is_a: EFO:0005127 ! cancer biomarker measurement relationship: IAO:0000136 EFO:1000616 ! is_about Uveal Melanoma property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010245 name: oxytocin measurement def: "Quantification of the amount of oxytocin in a sample." [] xref: PMID:31361301 is_a: EFO:0004730 ! hormone measurement relationship: IAO:0000136 CHEBI:7872 ! is_about oxytocin property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010246 name: recurrent def: "Episodes of disease that occur in individuals who have already had the disease." [] is_a: EFO:0009813 ! disease characteristic [Term] id: EFO:0010247 name: incident def: "A disease that is observed as a new case within the study period." [] is_a: EFO:0010569 ! clinical modifier [Term] id: EFO:0010248 name: spinocerebellar ataxia, autosomal recessive, 27 def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR27 is a progressive disease characterized by gait difficulties, eye movement abnormalities, dysarthria, and difficulty writing. Some patients may lose independent ambulation. Additional features include spasticity of the lower limbs and cognitive impairment." [] xref: OMIM:618369 is_a: MONDO:0957003 ! hereditary neuro-ophthalmological disease is_a: Orphanet:183518 ! Rare hereditary ataxia is_a: Orphanet:98539 ! Early-onset ataxia with dementia is_a: Orphanet:98693 ! Spinocerebellar ataxia with oculomotor anomaly property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010249 name: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAN3 is an autosomal recessive disorder characterized by onset in the first decade of slowly progressive distal muscle weakness and atrophy\n and distal sensory impairment due to an axonal peripheral neuropathy. Affected individuals have gait disturbances and sometimes manual dexterity difficulties, as well as cerebellar ataxia associated with cerebellar atrophy on brain imaging." [] xref: OMIM:618387 is_a: MONDO:0957003 ! hereditary neuro-ophthalmological disease is_a: Orphanet:183518 ! Rare hereditary ataxia is_a: Orphanet:98539 ! Early-onset ataxia with dementia is_a: Orphanet:98693 ! Spinocerebellar ataxia with oculomotor anomaly property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010250 name: polydactyly, postaxial, A9 def: "A form of postaxial polydactyly, a condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well-formed and articulates with the fifth or a sixth metacarpal/metatarsal. PAPA9 is an autosomal recessive condition characterized by one or more posterior or postaxial digits." [] xref: OMIM:618219 is_a: Orphanet:183536 ! Genetic congenital limb malformation is_a: Orphanet:404571 ! Dysostosis of genetic origin with limb anomaly as a major feature property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010251 name: spinocerebellar ataxia 48 def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA48 is an autosomal dominant neurodegenerative disease characterized by onset in mid-adulthood of progressive cognitive decline and gait ataxia, and vermian and hemispheric cerebellar atrophy." [] xref: OMIM:618093 is_a: Orphanet:94145 ! Autosomal dominant cerebellar ataxia type 1 property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010252 name: Menke-Hennekam syndrome 1 def: "A form of Menke-Hennekam syndrome, a congenital autosomal dominant disease characterized by developmental delay, growth retardation, and craniofacial dysmorphism. Patients have intellectual disability of variable severity, speech delay, autistic behavior, short stature and microcephaly. Main facial characteristics include short palpebral fissures, telecanthi, depressed nasal ridge, short nose, anteverted nares, short columella and long philtrum. Menke-Hennekam syndrome-1 (MKHK1) is caused by heterozygous mutation in exon 30 or 31 of the CREBBP gene." [] xref: OMIM:618332 is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0002254 ! syndromic disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010253 name: Menke-Hennekam syndrome 2 def: "A form of Menke-Hennekam syndrome, a congenital autosomal dominant disease characterized by developmental delay, growth retardation, and craniofacial dysmorphism. Patients have intellectual disability of variable severity, speech delay, autistic behavior, short stature and microcephaly. Main facial characteristics include short palpebral fissures, telecanthi, depressed nasal ridge, short nose, anteverted nares, short columella and long philtrum. Menke-Hennekam syndrome-2 (MKHK2) is caused by heterozygous mutations in exon 30 or 31 of the EP300 gene." [] xref: OMIM:618333 is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0002254 ! syndromic disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010254 name: obsolete_Popov-Chang syndrome def: "An autosomal dominant disorder characterized by global developmental delay, impaired intellectual development, poor or absent speech, facial dysmorphism, and behavioral manifestations including autistic-like behavior, self-injurious behavior, fear of social interaction, and poor concentration. Additional features are highly variable and can include seizures, short stature, feeding difficulties, and skin abnormalities." [] xref: OMIM:618428 property_value: dc-creator "paola" xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.16.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "OMIM removed OMIM:618428; author who described original phenotype asked to reclassify the 5 heterozygous de novo variants in the YWHAZ gene; see OMIM:601288. Hence, EFO is not replacing this term." xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true [Term] id: EFO:0010255 name: metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression def: "An autosomal recessive disease characterized by muscle weakness, developmental delay, lactic acidosis, and encephalopathy. The severity of the clinical manifestations is highly variable even within affected individuals of the same family, ranging from asymptomatic lactic acidosis to severe developmental regression, epilepsy, intellectual disability, metabolic crisis, and multiorgan involvement." [] xref: OMIM:618416 is_a: EFO:1000017 ! autosomal recessive disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010256 name: neurodegeneration, childhood-onset, with cerebellar atrophy def: "An autosomal recessive disorder characterized by early onset of progressive neurodegeneration affecting the central and peripheral nervous systems. Clinical features include global developmental delay, impaired intellectual development, poor or absent speech, and motor abnormalities. Brain imaging shows cerebellar atrophy. Death in childhood may occur." [] xref: OMIM:618276 is_a: EFO:1000017 ! autosomal recessive disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010257 name: global developmental delay, progressive ataxia, and elevated glutamine def: "An autosomal recessive disease characterized by early-onset delay in motor skills, delayed speech, progressive ataxia, and neurologic deterioration. Plasma glutamine is persistently elevated by a factor of 2.5 despite normal plasma ammonia levels." [] xref: OMIM:618412 is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0002254 ! syndromic disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010258 name: inflammatory bowel disease, immunodeficiency, and encephalopathy def: "An autosomal recessive disorder characterized by severe infantile inflammatory bowel disease manifesting as bloody diarrhea and failure to thrive, global developmental delay, epilepsy, brain atrophy and encephalopathy. Affected individuals suffer from recurrent infections associated with impaired T-cell response to stimulation and decreased T-cell subsets, including regulatory and helper T cells." [] xref: OMIM:618213 is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0002254 ! syndromic disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010259 name: intellectual developmental disorder with macrocephaly, seizures, and speech delay def: "A neurodevelopmental disorder characterized by impaired intellectual development, poor speech, postnatal macrocephaly, and seizures." [] xref: OMIM:618158 is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0002254 ! syndromic disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010260 name: global developmental delay with or without impaired intellectual development def: "An autosomal dominant disorder characterized by global developmental delay associated with mild-to-moderate intellectual disability, hypotonia and short stature in some patients." [] xref: OMIM:618330 is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0002254 ! syndromic disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010261 name: Paganini-Miozzo syndrome def: "A X-linked, syndromic, neurodevelopmental disorder characterized by intellectual disability, global developmental delay, severe myopia, and mild facial dysmorphism." [] xref: OMIM:301025 is_a: MONDO:0002254 ! syndromic disease is_a: MONDO:0020605 ! X-linked recessive disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010262 name: leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate def: "An autosomal recessive disorder characterized by acute, reversible neurological deterioration during febrile illness. Patients exhibit reversible leukoencephalopathy and increased urinary excretion of alpha-ketoglutarate." [] xref: OMIM:618384 is_a: EFO:1000017 ! autosomal recessive disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010263 name: gastrointestinal ulceration, recurrent, with dysfunctional platelets def: "An autosomal recessive disorder characterized by recurrent gastrointestinal mucosal ulcers, gastrointestinal bleeding, chronic anemia, iron deficiency, and abdominal pain. Disease features also include platelet dysfunction, and globally decreased eicosanoid synthesis." [] xref: OMIM:618372 is_a: EFO:0000405 ! digestive system disease is_a: EFO:1000017 ! autosomal recessive disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010264 name: spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant def: "An autosomal dominant neuromuscular disorder characterized by decreased fetal movements, fractures in utero, severe congenital joint contractures, arthrogryposis multiplex congenita, severe hypotonia, muscle atrophy, and respiratory insufficiency and failure due to muscle weakness. Some patients may have dysmorphic facial features and/or abnormalities on brain imaging. Death in early childhood may occur." [] xref: OMIM:618291 is_a: EFO:0008525 ! spinal muscular atrophy is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0024257 ! hereditary motor neuron disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010266 name: Charcot-Marie-Tooth disease type 1G def: "An autosomal dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. CMT1G is characterized by distal muscle weakness and atrophy with onset in the first or second decade." [] synonym: "Charcot-Marie-Tooth disease, demyelinating, 1G" EXACT [] xref: OMIM:618279 is_a: MONDO:0019011 ! Charcot-Marie-Tooth disease type 1 property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010267 name: autosomal dominant intermediate Charcot-Marie-Tooth disease type G def: "An autosomal dominant, intermediate form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Dominant intermediate forms are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. CMTDIG is phenotypically variable. Most affected individuals have onset in the first or second decades of slowly progressive distal motor weakness and atrophy, resulting in gait instability and distal upper limb impairment, as well as distal sensory impairment." [] synonym: "Charcot-Marie-Tooth disease, dominant intermediate G" EXACT [] xref: OMIM:617882 is_a: MONDO:0015626 ! Charcot-Marie-Tooth disease is_a: MONDO:0024257 ! hereditary motor neuron disease is_a: Orphanet:71859 ! Rare genetic neurological disorder relationship: EFO:0000784 CL:0000100 ! has_disease_location motor neuron property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010268 name: brain abnormalities, neurodegeneration, and dysosteosclerosis def: "An autosomal recessive disease with variable manifestations. Main features are brain malformations with calcifying leukoencephalopathy, progressive neurodegeneration, and bone sclerotic features. The age at onset ranges from infancy to early adulthood. Neurologic features include loss of previous motor and language skills, cognitive impairment, spasticity, and focal seizures. Brain imaging shows periventricular white matter abnormalities and calcifications, large cisterna magna or Dandy-Walker malformation, and sometimes agenesis of the corpus callosum." [] xref: OMIM:618476 is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0002254 ! syndromic disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010269 name: amenorrhea def: "The absence of menses in a female individual who has achieved reproductive age." [] xref: http://purl.obolibrary.org/obo/NCIT_C61443 xref: MedDRA:10001927 xref: PMID:25867717 is_a: EFO:0010270 ! Menstrual disorder property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Maria Cerezo" xsd:string [Term] id: EFO:0010270 name: Menstrual disorder def: "Category of disorders related to menstruation." [] xref: http://purl.obolibrary.org/obo/NCIT_C34815 xref: MedDRA:10027327 xref: PMID:25867717 is_a: EFO:0005771 ! ovarian disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Maria Cerezo" xsd:string [Term] id: EFO:0010271 name: bacterial pathogen genotype measurement def: "A measurement of the genotype of a bacterial pathogen in an infected individual." [] xref: PMID:31092817 is_a: EFO:0006843 ! infectious disease biomarker relationship: IAO:0000136 EFO:0000771 ! is_about bacterial disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010272 name: abdominal aortic calcification measurement def: "A quantification of the extent of calcification in the abdominal aorta." [] xref: PMID:31659325 is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 EFO:0004859 ! is_about abdominal aortic artery calcification relationship: IAO:0000136 UBERON:0001516 ! is_about abdominal aorta property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010273 name: thoracic aortic calcification measurement def: "A quantification of the extent of calcification in the thoracic aorta." [] xref: PMID:31659325 is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 EFO:0010274 ! is_about thoracic aortic artery calcification relationship: IAO:0000136 UBERON:0001515 ! is_about thoracic aorta property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010274 name: thoracic aortic artery calcification def: "Calcification of the thoracic aortic artery, used as an indicator of sub clinical athrosclerosis." [] is_a: HP:0001626 ! Abnormality of the cardiovascular system relationship: RO:0002314 UBERON:0001637 ! inheres in part of artery [Term] id: EFO:0010276 name: neurodevelopmental disorder with seizures and non-epileptic hyperkinetic movements def: "An autosomal recessive, complex and progressive neurologic disorder characterized by severe neurodevelopmental delay and developmental regression, epileptic encephalopathy, postnatal microcephaly, hypotonia, and non-epileptic hyperkinetic movement disorder, including myoclonus dystonia, choreoathetosis, or generalized dyskinesia. Disease onset in infancy or first years of life." [] xref: OMIM:618497 is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0002254 ! syndromic disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010277 name: O'Donnell-Luria-Rodan syndrome def: "A neurodevelopmental disorder characterized by global developmental delay, speech delay, intellectual disability and a subtle facial gestalt. Additional common features include autism, seizures, hypotonia and functional gastrointestinal abnormalities." [] xref: OMIM:618512 is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0002254 ! syndromic disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010278 name: Shukla-Vernon syndrome def: "A X-linked neurodevelopmental disorder manifesting in affected males with intellectual and learning disability, motor and language delay, autism spectrum disorder, attention deficit and hyperactivity disorder, and dysmorphic features. Some patients may have seizures and/or cerebellar atrophy on brain imaging. Carrier females may have mild disease manifestations." [] xref: OMIM:301029 is_a: MONDO:0000425 ! X-linked disease is_a: MONDO:0002254 ! syndromic disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010279 name: GIST-plus syndrome def: "A disorder characterized by multiple mesenchymal tumors of the gastrointestinal tract, including gastrointestinal stromal tumor, inflammatory fibroid polyps, and fibroid tumors. Additional features are coarse facies and skin, broad hands and feet, and premature tooth loss. GISTPS is an autosomal dominant disease with incomplete penetrance. Gastrointestinal stromal tumor and inflammatory fibroid polyps may also occur in isolation." [] synonym: "gastrointestinal stromal tumor" EXACT [] synonym: "polyps, multiple and recurrent inflammatory fibroid, gastrointestinal" EXACT [] xref: OMIM:175510 is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0002254 ! syndromic disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010280 name: intellectual developmental disorder, autosomal recessive 71 def: "A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic intellectual disability, while syndromic intellectual disability presents with associated physical, neurological and/or psychiatric manifestations. MRT71 features include impaired intellectual development, global developmental delay, mildly delayed walking, poor language, seizures in the first years of life, and behavioral abnormalities." [] xref: OMIM:618504 is_a: MONDO:0000508 ! syndromic intellectual disability property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010282 name: gastrointestinal disease def: "A disease that occurs in the gastrointestinal system, excluding the hepatobiliary system." [] xref: DOID:77 is_a: EFO:0000405 ! digestive system disease property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0010283 name: blood disease def: "A disease that occurs in the blood." [] is_a: EFO:0005803 ! hematologic disease [Term] id: EFO:0010284 name: hepatobiliary disease def: "A non-neoplastic or neoplastic disorder that affects the liver, bile ducts, and gallbladder. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and cholecystitis. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, and cholangiocarcinoma." [NCIT:P378] synonym: "disease of hepatobiliary system" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of hepatobiliary system" EXACT [] synonym: "disorder of hepatobiliary system" EXACT [MONDO:patterns/location_top] synonym: "hepatobiliary disorder" EXACT [NCIT:C3959] synonym: "hepatobiliary disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "hepatobiliary system disease" EXACT [MONDO:patterns/location] synonym: "hepatobiliary system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "liver and biliary disease" EXACT [NCIT:C3959] synonym: "liver and biliary disorder" EXACT [NCIT:C3959] synonym: "liver and biliary system disorder" EXACT [NCIT:C3959] synonym: "liver and biliary tract disease" EXACT [DOID:3118] xref: DOID:3118 {source="MONDO:equivalentTo"} xref: MedDRA:10062000 xref: MONDO:0002515 xref: NCIT:C3959 {source="MONDO:equivalentTo", source="DOID:3118"} xref: UMLS:C0267792 {source="MONDO:equivalentTo", source="DOID:3118"} is_a: EFO:0000405 {source="DOID:3118", source="MONDO:Redundant", source="NCIT:C3959"} ! digestive system disease property_value: exactMatch DOID:3118 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267792 property_value: exactMatch NCIT:C3959 [Term] id: EFO:0010285 name: integumentary system disease alt_id: MONDO:0045027 def: "A disease involving the integumental system." [https://orcid.org/0000-0002-6601-2165] subset: rare_grouping synonym: "disease of integumental system" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of integumental system" EXACT [] synonym: "disorder of integument" RELATED [] synonym: "disorder of integumental system" EXACT [MONDO:patterns/location_top] synonym: "integumental system disease" EXACT [MONDO:patterns/location] synonym: "integumental system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "integumentary disease" EXACT [DOID:16] synonym: "integumentary system disorder" EXACT [] {comment="preferred label from MONDO"} xref: DOID:16 {source="MONDO:equivalentTo"} xref: MONDO:0002051 xref: SCTID:128598002 {source="MONDO:equivalentTo"} xref: UMLS:C1290011 {source="MONDO:equivalentTo"} is_a: EFO:0000408 ! disease property_value: exactMatch DOID:16 property_value: exactMatch http://identifiers.org/snomedct/128598002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1290011 [Term] id: EFO:0010286 name: banks of the superior temporal sulcus volume measurement def: "Quantification of the volume of the banks of the superior temporal sulcus." [] xref: PMID:31530798 is_a: EFO:0010147 ! temporal lobe volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010287 name: brain cortex volume measurement def: "Quantification of the volume of the brain cortex." [] xref: PMID:31530798 is_a: EFO:0006930 ! brain volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010288 name: brain density measurement def: "Quantification of the density of the brain." [] xref: PMID:31530798 is_a: EFO:0004464 ! brain measurement is_a: EFO:0005052 ! nervous system measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010289 name: caudal anterior cingulate cortex volume measurement def: "Quantification of the volume of the caudal anterior cingulate cortex." [] xref: PMID:31530798 is_a: EFO:0010294 ! cingulate cortex volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010290 name: caudal middle frontal gyrus volume measurement def: "Quantification of the volume of the caudal middle frontal gyrus." [] xref: PMID:31530798 is_a: EFO:0010144 ! frontal lobe volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010291 name: cerebellar cortex volume measurement def: "Quantification of the volume of the cerebellar cortex." [] synonym: "cerebellum cortex volume measurement" EXACT [] xref: PMID:31530798 is_a: EFO:0020864 ! cerebellar volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010292 name: cerebral cortex volume measurement def: "Quantification of the volume of the cerebral cortex." [] xref: PMID:31530798 is_a: EFO:0006930 ! brain volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010293 name: choroid plexus volume measurement def: "Quantification of the volume of the choroid plexus." [] xref: PMID:31530798 is_a: EFO:0006930 ! brain volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010294 name: cingulate cortex volume measurement def: "Quantification of the volume of the cingulate cortex." [] xref: PMID:31530798 is_a: EFO:0006930 ! brain volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010295 name: corpus callosum anterior volume measurement def: "Quantification of the volume of the corpus callosum anterior." [] xref: PMID:31530798 is_a: EFO:0010299 ! corpus callosum volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010296 name: corpus callosum central volume measurement def: "Quantification of the volume of the corpus callosum central." [] xref: PMID:31530798 is_a: EFO:0010299 ! corpus callosum volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010297 name: corpus callosum mid-anterior volume measurement def: "Quantification of the volume of the corpus callosum mid-anterior." [] xref: PMID:31530798 is_a: EFO:0010295 ! corpus callosum anterior volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010298 name: corpus callosum posterior volume measurement def: "Quantification of the volume of the corpus callosum posterior." [] xref: PMID:31530798 is_a: EFO:0010299 ! corpus callosum volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010299 name: corpus callosum volume measurement def: "Quantification of the volume of the corpus callosum." [] xref: PMID:31530798 is_a: EFO:0006930 ! brain volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010300 name: corpus collosum mid-posterior volume measurement def: "Quantification of the volume of the corpus collosum mid-posterior." [] xref: PMID:31530798 is_a: EFO:0010298 ! corpus callosum posterior volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010301 name: cuneus cortex volume measurement def: "Quantification of the volume of the cuneus cortex." [] xref: PMID:31530798 is_a: EFO:0010145 ! occipital lobe volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010302 name: entorhinal cortex volume measurement def: "Quantification of the volume of the entorhinal cortex." [] xref: PMID:31530798 is_a: EFO:0010147 ! temporal lobe volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010303 name: fourth ventricle volume measurement def: "Quantification of the volume of the choroid plexus." [] xref: PMID:31530798 is_a: EFO:0006930 ! brain volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010304 name: frontal pole volume measurement def: "Quantification of the volume of the frontal pole." [] xref: PMID:31530798 is_a: EFO:0010144 ! frontal lobe volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010305 name: fusiform gyrus volume measurement def: "Quantification of the volume of the fusiform gyrus." [] xref: PMID:31530798 is_a: EFO:0010147 ! temporal lobe volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010306 name: Grey matter density measurement def: "Quantification of the density of the grey matter of the brain or part of the brain." [] xref: PMID:31530798 is_a: EFO:0010288 ! brain density measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010307 name: inferior parietal cortex volume measurement def: "Quantification of the volume of the inferior parietal cortex." [] xref: PMID:31530798 is_a: EFO:0010146 ! parietal lobe volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010308 name: inferior temporal gyrus volume measurement def: "Quantification of the volume of the inferior temporal gyrus." [] xref: PMID:31530798 is_a: EFO:0010147 ! temporal lobe volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010309 name: insular cortex volume measurement def: "Quantification of the volume of the insular cortex." [] xref: PMID:31530798 is_a: EFO:0010287 ! brain cortex volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010310 name: isthmus cingulate cortex volume measurement def: "Quantification of the volume of the isthmus of the cingulate cortex." [] xref: PMID:31530798 is_a: EFO:0010294 ! cingulate cortex volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010311 name: lateral occipital cortex volume measurement def: "Quantification of the volume of the lateral occipital." [] xref: PMID:31530798 is_a: EFO:0010145 ! occipital lobe volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010312 name: lateral orbital frontal cortex volume measurement def: "Quantification of the volume of the Lateral orbital frontal cortex." [] xref: PMID:31530798 is_a: EFO:0010144 ! frontal lobe volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010313 name: limbic lobe volume measurement def: "Quantification of the volume of the limbic lobe." [] xref: PMID:31530798 is_a: EFO:0006930 ! brain volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010314 name: lingual gyrus volume measurement def: "Quantification of the volume of the lingual gyrus." [] xref: PMID:31530798 is_a: EFO:0010145 ! occipital lobe volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010315 name: medial orbital frontal cortex volume measurement def: "Quantification of the volume of the medial orbital frontal cortex." [] xref: PMID:31530798 is_a: EFO:0010144 ! frontal lobe volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010316 name: middle temporal gyrus volume measurement def: "Quantification of the volume of the middle temporal gyrus." [] xref: PMID:31530798 is_a: EFO:0010147 ! temporal lobe volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010317 name: paracentral lobule volume measurement def: "Quantification of the volume of the paracentral lobule." [] xref: PMID:31530798 is_a: EFO:0010144 ! frontal lobe volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010318 name: parahippocampal gyrus volume measurement def: "Quantification of the volume of the parahippocampal gyrus." [] xref: PMID:31530798 is_a: EFO:0010313 ! limbic lobe volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010319 name: pars opercularis volume measurement def: "Quantification of the volume of the pars opercularis." [] xref: PMID:31530798 is_a: EFO:0010144 ! frontal lobe volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010320 name: pars orbitalis volume measurement def: "Quantification of the volume of the pars orbitalis." [] xref: PMID:31530798 is_a: EFO:0010144 ! frontal lobe volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010321 name: pars triangularis volume measurement def: "Quantification of the volume of the pars triangularis." [] xref: PMID:31530798 is_a: EFO:0010144 ! frontal lobe volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010322 name: pericalcarine cortex volume measurement def: "Quantification of the volume of the pericalcarine cortex." [] xref: PMID:31530798 is_a: EFO:0010145 ! occipital lobe volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010323 name: postcentral gyrus volume measurement def: "Quantification of the volume of the postcentral gyrus." [] xref: PMID:31530798 is_a: EFO:0010146 ! parietal lobe volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010324 name: posterior cingulate cortex volume measurement def: "Quantification of the volume of the posterior cingulate cortex." [] xref: PMID:31530798 is_a: EFO:0010294 ! cingulate cortex volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010325 name: precentral gyrus volume measurement def: "Quantification of the volume of the precentral gyrus." [] xref: PMID:31530798 is_a: EFO:0010144 ! frontal lobe volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010326 name: precuneus cortex volume measurement def: "Quantification of the volume of the precuneus cortex." [] xref: PMID:31530798 is_a: EFO:0010146 ! parietal lobe volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010327 name: rostral anterior cingulate cortex volume measurement def: "Quantification of the volume of the rostral anterior cingulate cortex." [] xref: PMID:31530798 is_a: EFO:0010294 ! cingulate cortex volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010328 name: rostral middle frontal gyrus volume measurement def: "Quantification of the volume of the rostral middle frontal gyrus." [] xref: PMID:31530798 is_a: EFO:0010144 ! frontal lobe volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010329 name: superior frontal gyrus volume measurement def: "Quantification of the volume of the superior frontal gyrus." [] xref: PMID:31530798 is_a: EFO:0010144 ! frontal lobe volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010330 name: superior parietal cortex volume measurement def: "Quantification of the volume of the superior parietal cortex." [] xref: PMID:31530798 is_a: EFO:0010146 ! parietal lobe volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010331 name: superior temporal gyrus volume measurement def: "Quantification of the volume of the superior temporal gyrus." [] xref: PMID:31530798 is_a: EFO:0010147 ! temporal lobe volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010332 name: supramarginal gyrus volume measurement def: "Quantification of the volume of the supramarginal gyrus." [] xref: PMID:31530798 is_a: EFO:0010146 ! parietal lobe volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010333 name: temporal horn of lateral ventricle volume measurement def: "Quantification of the volume of the choroid plexus." [] xref: PMID:31530798 is_a: EFO:0008487 ! lateral ventricle volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010334 name: temporal pole volume measurement def: "Quantification of the volume of the temporal pole." [] xref: PMID:31530798 is_a: EFO:0010147 ! temporal lobe volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010335 name: third ventricle volume measurement def: "Quantification of the volume of the choroid plexus." [] xref: PMID:31530798 is_a: EFO:0006930 ! brain volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010336 name: transverse temporal cortex volume measurement def: "Quantification of the volume of the transverse temporal cortex." [] xref: PMID:31530798 is_a: EFO:0010147 ! temporal lobe volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010337 name: ventral diencephalon volume measurement def: "Quantification of the volume of the ventral diencephalon." [] xref: PMID:31530798 is_a: EFO:0006930 ! brain volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010338 name: obsolete_follicular lymphoma def: "Follicular lymphoma is a form of non-Hodgkin lymphoma (see this term) characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved." [] property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.13.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Broken IRI from incorrect import: http://www.ebi.ac.uk/efo/http://purl.obolibrary.org/obo/MONDO_0018906\nGiven EFO ID (http://www.ebi.ac.uk/efo/EFO_0010338) and replaced by http://purl.obolibrary.org/obo/MONDO_0018906" xsd:string property_value: IAO:0000117 "Elliot Sollis" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/MONDO_0018906 [Term] id: EFO:0010339 name: FVC change measurement def: "Quantification of the rate of change in forced vital capacity of an individual over the course of time, used as an indicator of improvement or decay of pulmonary function." [] synonym: "forced vital capacity change meaurement" EXACT [] xref: PMID:31557306 is_a: EFO:0003892 ! pulmonary function measurement is_a: EFO:0006841 ! respiratory disease biomarker relationship: IAO:0000136 EFO:0000684 ! is_about respiratory system disease relationship: IAO:0000136 UBERON:0002048 ! is_about lung property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010340 name: cholesteryl ester 14:0 measurement def: "The quantification of cholesteryl ester 14:0 levels in a sample." [] synonym: "CE 14:0" EXACT [] xref: PMID:23823483 is_a: EFO:0010351 ! cholesteryl ester measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010341 name: cholesteryl ester 16:0 measurement def: "The quantification of cholesteryl ester 16:0 levels in a sample." [] synonym: "CE 16:0" EXACT [] xref: PMID:23823483 is_a: EFO:0010351 ! cholesteryl ester measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010342 name: cholesteryl ester 16:1 measurement def: "The quantification of cholesteryl ester 16:1 levels in a sample." [] synonym: "CE 16:1" EXACT [] xref: PMID:23823483 is_a: EFO:0010351 ! cholesteryl ester measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010343 name: cholesteryl ester 18:0 measurement def: "The quantification of cholesteryl ester 18:0 levels in a sample." [] synonym: "CE 18:0" EXACT [] xref: PMID:23823483 is_a: EFO:0010351 ! cholesteryl ester measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010344 name: cholesteryl ester 18:1 measurement def: "The quantification of cholesteryl ester 18:1 levels in a sample." [] synonym: "CE 18:1" EXACT [] xref: PMID:23823483 is_a: EFO:0010351 ! cholesteryl ester measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010345 name: cholesteryl ester 18:2 measurement def: "The quantification of cholesteryl ester 18:2 levels in a sample." [] synonym: "CE 18:2" EXACT [] xref: PMID:23823483 is_a: EFO:0010351 ! cholesteryl ester measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010346 name: cholesteryl ester 18:3 measurement def: "The quantification of cholesteryl ester 18:3 levels in a sample." [] synonym: "CE 18:3" EXACT [] xref: PMID:23823483 is_a: EFO:0010351 ! cholesteryl ester measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010347 name: cholesteryl ester 20:3 measurement def: "The quantification of cholesteryl ester 20:3 levels in a sample." [] synonym: "CE 20:3" EXACT [] xref: PMID:23823483 is_a: EFO:0010351 ! cholesteryl ester measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010348 name: cholesteryl ester 20:4 measurement def: "The quantification of cholesteryl ester 20:4 levels in a sample." [] synonym: "CE 20:4" EXACT [] xref: PMID:23823483 is_a: EFO:0010351 ! cholesteryl ester measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010349 name: cholesteryl ester 20:5 measurement def: "The quantification of cholesteryl ester 20:5 levels in a sample." [] synonym: "CE 20:5" EXACT [] xref: PMID:23823483 is_a: EFO:0010351 ! cholesteryl ester measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010350 name: cholesteryl ester 22:6 measurement def: "The quantification of cholesteryl ester 22:6 levels in a sample." [] synonym: "CE 22:6" EXACT [] xref: PMID:23823483 is_a: EFO:0010351 ! cholesteryl ester measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010351 name: cholesteryl ester measurement def: "The quantification of cholesteryl ester levels in a sample." [] synonym: "CE" EXACT [] xref: PMID:23823483 is_a: EFO:0004529 ! lipid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010352 name: diacylglycerol 34:1 measurement def: "The quantification of diacylglycerol 34:1 levels in a sample." [] synonym: "DAG 34:1" EXACT [] xref: PMID:23823483 is_a: EFO:0010223 ! diglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010353 name: diacylglycerol 34:2 measurement def: "The quantification of diacylglycerol 34:2 levels in a sample." [] synonym: "DAG 34:2" EXACT [] xref: PMID:23823483 is_a: EFO:0010223 ! diglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010354 name: diacylglycerol 36:1 measurement def: "The quantification of diacylglycerol 36:1 levels in a sample." [] synonym: "DAG 36:1" EXACT [] xref: PMID:23823483 is_a: EFO:0010223 ! diglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010355 name: diacylglycerol 36:2 measurement def: "The quantification of diacylglycerol 36:2 levels in a sample." [] synonym: "DAG 36:2" EXACT [] xref: PMID:23823483 is_a: EFO:0010223 ! diglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010356 name: lysophosphatidylcholine 14:0 measurement def: "The quantification of lysophosphatidylcholine 14:0 levels in a sample." [] synonym: "LPC 14:0" EXACT [] xref: PMID:23823483 is_a: EFO:0010224 ! lysophosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010357 name: lysophosphatidylcholine 16:0 measurement def: "The quantification of lysophosphatidylcholine 16:0 levels in a sample." [] synonym: "LPC 16:0" EXACT [] xref: PMID:23823483 is_a: EFO:0010224 ! lysophosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010358 name: lysophosphatidylcholine 16:1 measurement def: "The quantification of lysophosphatidylcholine 16:1 levels in a sample." [] synonym: "LPC 16:1" EXACT [] xref: PMID:23823483 is_a: EFO:0010224 ! lysophosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010359 name: lysophosphatidylcholine 18:0 measurement def: "The quantification of lysophosphatidylcholine 18:0 levels in a sample." [] synonym: "LPC 18:0" EXACT [] xref: PMID:23823483 is_a: EFO:0010224 ! lysophosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010360 name: lysophosphatidylcholine 18:1 measurement def: "The quantification of lysophosphatidylcholine 18:1 levels in a sample." [] synonym: "LPC 18:1" EXACT [] xref: PMID:23823483 is_a: EFO:0010224 ! lysophosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010361 name: lysophosphatidylcholine 18:2 measurement def: "The quantification of lysophosphatidylcholine 18:2 levels in a sample." [] synonym: "LPC 18:2" EXACT [] xref: PMID:23823483 is_a: EFO:0010224 ! lysophosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010362 name: lysophosphatidylcholine 20:3 measurement def: "The quantification of lysophosphatidylcholine 20:3 levels in a sample." [] synonym: "LPC 20:3" EXACT [] xref: PMID:23823483 is_a: EFO:0010224 ! lysophosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010363 name: lysophosphatidylcholine 20:4 measurement def: "The quantification of lysophosphatidylcholine 20:4 levels in a sample." [] synonym: "LPC 20:4" EXACT [] xref: PMID:23823483 is_a: EFO:0010224 ! lysophosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010364 name: lysophosphatidylcholine 20:5 measurement def: "The quantification of lysophosphatidylcholine 20:5 levels in a sample." [] synonym: "LPC 20:5" EXACT [] xref: PMID:23823483 is_a: EFO:0010224 ! lysophosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010365 name: lysophosphatidylcholine 22:6 measurement def: "The quantification of lysophosphatidylcholine 22:6 levels in a sample." [] synonym: "LPC 22:6" EXACT [] xref: PMID:23823483 is_a: EFO:0010224 ! lysophosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010366 name: lysophosphatidylethanolamine 16:0 measurement def: "The quantification of lysophosphatidylethanolamine 16:0 levels in a sample." [] synonym: "LPE 16:0" EXACT [] xref: PMID:23823483 is_a: EFO:0010225 ! lysophosphatidylethanolamine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010367 name: lysophosphatidylethanolamine 18:0 measurement def: "The quantification of lysophosphatidylethanolamine 18:0 levels in a sample." [] synonym: "LPE 18:0" EXACT [] xref: PMID:23823483 is_a: EFO:0010225 ! lysophosphatidylethanolamine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010368 name: lysophosphatidylethanolamine 18:1 measurement def: "The quantification of lysophosphatidylethanolamine 18:1 levels in a sample." [] synonym: "LPE 18:1" EXACT [] xref: PMID:23823483 is_a: EFO:0010225 ! lysophosphatidylethanolamine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010369 name: lysophosphatidylethanolamine 18:2 measurement def: "The quantification of lysophosphatidylethanolamine 18:2 levels in a sample." [] synonym: "LPE 18:2" EXACT [] xref: PMID:23823483 is_a: EFO:0010225 ! lysophosphatidylethanolamine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010370 name: lysophosphatidylethanolamine 20:4 measurement def: "The quantification of lysophosphatidylethanolamine 20:4 levels in a sample." [] synonym: "LPE 20:4" EXACT [] xref: PMID:23823483 is_a: EFO:0010225 ! lysophosphatidylethanolamine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010371 name: lysophosphatidylethanolamine 22:6 measurement def: "The quantification of lysophosphatidylethanolamine 22:6 levels in a sample." [] synonym: "LPE 22:6" EXACT [] xref: PMID:23823483 is_a: EFO:0010225 ! lysophosphatidylethanolamine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010372 name: phosphatidylcholine 32:0 measurement def: "The quantification of phosphatidylcholine 32:0 levels in a sample." [] synonym: "PC 32:0" EXACT [] xref: PMID:23823483 is_a: EFO:0010226 ! phosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010373 name: phosphatidylcholine 32:1 measurement def: "The quantification of phosphatidylcholine 32:1 levels in a sample." [] synonym: "PC 32:1" EXACT [] xref: PMID:23823483 is_a: EFO:0010226 ! phosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010374 name: phosphatidylcholine 32:2 measurement def: "The quantification of phosphatidylcholine 32:2 levels in a sample." [] synonym: "PC 32:2" EXACT [] xref: PMID:23823483 is_a: EFO:0010226 ! phosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010375 name: phosphatidylcholine 34:1 measurement def: "The quantification of phosphatidylcholine 34:1 levels in a sample." [] synonym: "PC 34:1" EXACT [] xref: PMID:23823483 is_a: EFO:0010226 ! phosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010376 name: phosphatidylcholine 34:2 measurement def: "The quantification of phosphatidylcholine 34:2 levels in a sample." [] synonym: "PC 34:2" EXACT [] xref: PMID:23823483 is_a: EFO:0010226 ! phosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010377 name: phosphatidylcholine 34:3 measurement def: "The quantification of phosphatidylcholine 34:3 levels in a sample." [] synonym: "PC 34:3" EXACT [] xref: PMID:23823483 is_a: EFO:0010226 ! phosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010378 name: phosphatidylcholine 34:4 measurement def: "The quantification of phosphatidylcholine 34:4 levels in a sample." [] synonym: "PC 34:4" EXACT [] xref: PMID:23823483 is_a: EFO:0010226 ! phosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010379 name: phosphatidylcholine 36:1 measurement def: "The quantification of phosphatidylcholine 36:1 levels in a sample." [] synonym: "PC 36:1" EXACT [] xref: PMID:23823483 is_a: EFO:0010226 ! phosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010380 name: phosphatidylcholine 36:2 measurement def: "The quantification of phosphatidylcholine 36:2 levels in a sample." [] synonym: "PC 36:2" EXACT [] xref: PMID:23823483 is_a: EFO:0010226 ! phosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010381 name: phosphatidylcholine 36:3 measurement def: "The quantification of phosphatidylcholine 36:3 levels in a sample." [] synonym: "PC 36:3" EXACT [] xref: PMID:23823483 is_a: EFO:0010226 ! phosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010382 name: phosphatidylcholine 36:4 measurement def: "The quantification of phosphatidylcholine 36:4 levels in a sample." [] synonym: "PC 36:4" EXACT [] xref: PMID:23823483 is_a: EFO:0010226 ! phosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010383 name: phosphatidylcholine 36:5 measurement def: "The quantification of phosphatidylcholine 36:5 levels in a sample." [] synonym: "PC 36:5" EXACT [] xref: PMID:23823483 is_a: EFO:0010226 ! phosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010384 name: phosphatidylcholine 38:2 measurement def: "The quantification of phosphatidylcholine 38:2 levels in a sample." [] synonym: "PC 38:2" EXACT [] xref: PMID:23823483 is_a: EFO:0010226 ! phosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010385 name: phosphatidylcholine 38:3 measurement def: "The quantification of phosphatidylcholine 38:3 levels in a sample." [] synonym: "PC 38:3" EXACT [] xref: PMID:23823483 is_a: EFO:0010226 ! phosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010386 name: phosphatidylcholine 38:4 measurement def: "The quantification of phosphatidylcholine 38:4 levels in a sample." [] synonym: "PC 38:4" EXACT [] xref: PMID:23823483 is_a: EFO:0010226 ! phosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010387 name: phosphatidylcholine 38:5 measurement def: "The quantification of phosphatidylcholine 38:5 levels in a sample." [] synonym: "PC 38:5" EXACT [] xref: PMID:23823483 is_a: EFO:0010226 ! phosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010388 name: phosphatidylcholine 38:6 measurement def: "The quantification of phosphatidylcholine 38:6 levels in a sample." [] synonym: "PC 38:6" EXACT [] xref: PMID:23823483 is_a: EFO:0010226 ! phosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010389 name: phosphatidylcholine 40:6 measurement def: "The quantification of phosphatidylcholine 40:6 levels in a sample." [] synonym: "PC 40:6" EXACT [] xref: PMID:23823483 is_a: EFO:0010226 ! phosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010390 name: sphingomyelin 14:0 measurement def: "The quantification of sphingomyelin 14:0 levels in a sample." [] synonym: "SM 14:0" EXACT [] xref: PMID:23823483 is_a: EFO:0010118 ! sphingomyelin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010391 name: sphingomyelin 16:0 measurement def: "The quantification of sphingomyelin 16:0 levels in a sample." [] synonym: "SM 16:0" EXACT [] xref: PMID:23823483 is_a: EFO:0010118 ! sphingomyelin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010392 name: sphingomyelin 16:1 measurement def: "The quantification of sphingomyelin 16:1 levels in a sample." [] synonym: "SM 16:1" EXACT [] xref: PMID:23823483 is_a: EFO:0010118 ! sphingomyelin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010393 name: sphingomyelin 18:0 measurement def: "The quantification of sphingomyelin 18:0 levels in a sample." [] synonym: "SM 18:0" EXACT [] xref: PMID:23823483 is_a: EFO:0010118 ! sphingomyelin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010394 name: sphingomyelin 18:1 measurement def: "The quantification of sphingomyelin 18:1 levels in a sample." [] synonym: "SM 18:1" EXACT [] xref: PMID:23823483 is_a: EFO:0010118 ! sphingomyelin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010395 name: sphingomyelin 22:0 measurement def: "The quantification of sphingomyelin 22:0 levels in a sample." [] synonym: "SM 22:0" EXACT [] xref: PMID:23823483 is_a: EFO:0010118 ! sphingomyelin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010396 name: sphingomyelin 22:1 measurement def: "The quantification of sphingomyelin 22:1 levels in a sample." [] synonym: "SM 22:1" EXACT [] xref: PMID:23823483 is_a: EFO:0010118 ! sphingomyelin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010397 name: sphingomyelin 24:0 measurement def: "The quantification of sphingomyelin 24:0 levels in a sample." [] synonym: "SM 24:0" EXACT [] xref: PMID:23823483 is_a: EFO:0010118 ! sphingomyelin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010398 name: sphingomyelin 24:1 measurement def: "The quantification of sphingomyelin 24:1 levels in a sample." [] synonym: "SM 24:1" EXACT [] xref: PMID:23823483 is_a: EFO:0010118 ! sphingomyelin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010399 name: triacylglycerol 44:1 measurement def: "The quantification of triacylglycerol 44:1 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 44:1" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010400 name: triacylglycerol 46:0 measurement def: "The quantification of triacylglycerol 46:0 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 46:0" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010401 name: triacylglycerol 46:1 measurement def: "The quantification of triacylglycerol 46:1 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 46:1" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010402 name: triacylglycerol 46:2 measurement def: "The quantification of triacylglycerol 46:2 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 46:2" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010403 name: triacylglycerol 48:0 measurement def: "The quantification of triacylglycerol 48:0 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 48:0" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010404 name: triacylglycerol 48:1 measurement def: "The quantification of triacylglycerol 48:1 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 48:1" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010405 name: triacylglycerol 48:2 measurement def: "The quantification of triacylglycerol 48:2 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 48:2" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010406 name: triacylglycerol 48:3 measurement def: "The quantification of triacylglycerol 48:3 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 48:3" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010407 name: triacylglycerol 48:4 measurement def: "The quantification of triacylglycerol 48:4 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 48:4" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010408 name: triacylglycerol 50:1 measurement def: "The quantification of triacylglycerol 50:1 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 50:1" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010409 name: triacylglycerol 50:2 measurement def: "The quantification of triacylglycerol 50:2 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 50:2" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010410 name: triacylglycerol 50:3 measurement def: "The quantification of triacylglycerol 50:3 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 50:3" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010411 name: triacylglycerol 50:4 measurement def: "The quantification of triacylglycerol 50:4 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 50:4" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010412 name: triacylglycerol 50:5 measurement def: "The quantification of triacylglycerol 50:5 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 50:5" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010413 name: triacylglycerol 52:1 measurement def: "The quantification of triacylglycerol 52:1 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 52:1" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010414 name: triacylglycerol 52:2 measurement def: "The quantification of triacylglycerol 52:2 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 52:2" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010415 name: triacylglycerol 52:3 measurement def: "The quantification of triacylglycerol 52:3 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 52:3" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010416 name: triacylglycerol 52:4 measurement def: "The quantification of triacylglycerol 52:4 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 52:4" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010417 name: triacylglycerol 52:5 measurement def: "The quantification of triacylglycerol 52:5 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 52:5" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010418 name: triacylglycerol 52:6 measurement def: "The quantification of triacylglycerol 52:6 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 52:6" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010419 name: triacylglycerol 54:1 measurement def: "The quantification of triacylglycerol 54:1 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 54:1" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010420 name: triacylglycerol 54:2 measurement def: "The quantification of triacylglycerol 54:2 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 54:2" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010421 name: triacylglycerol 54:3 measurement def: "The quantification of triacylglycerol 54:3 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 54:3" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010422 name: triacylglycerol 54:4 measurement def: "The quantification of triacylglycerol 54:4 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 54:4" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010423 name: triacylglycerol 54:5 measurement def: "The quantification of triacylglycerol 54:5 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 54:5" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010424 name: triacylglycerol 54:6 measurement def: "The quantification of triacylglycerol 54:6 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 54:6" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010425 name: triacylglycerol 54:7 measurement def: "The quantification of triacylglycerol 54:7 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 54:7" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010426 name: triacylglycerol 54:8 measurement def: "The quantification of triacylglycerol 54:8 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 54:8" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010427 name: triacylglycerol 54:9 measurement def: "The quantification of triacylglycerol 54:9 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 54:9" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010428 name: triacylglycerol 56:10 measurement def: "The quantification of triacylglycerol 56:10 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 56:10" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010429 name: triacylglycerol 56:2 measurement def: "The quantification of triacylglycerol 56:2 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 56:2" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010430 name: triacylglycerol 56:3 measurement def: "The quantification of triacylglycerol 56:3 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 56:3" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010431 name: triacylglycerol 56:4 measurement def: "The quantification of triacylglycerol 56:4 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 56:4" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010432 name: triacylglycerol 56:5 measurement def: "The quantification of triacylglycerol 56:5 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 56:5" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010433 name: triacylglycerol 56:6 measurement def: "The quantification of triacylglycerol 56:6 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 56:6" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010434 name: triacylglycerol 56:7 measurement def: "The quantification of triacylglycerol 56:7 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 56:7" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010435 name: triacylglycerol 56:8 measurement def: "The quantification of triacylglycerol 56:8 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 56:8" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010436 name: triacylglycerol 56:9 measurement def: "The quantification of triacylglycerol 56:9 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 56:9" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010437 name: triacylglycerol 58:10 measurement def: "The quantification of triacylglycerol 58:10 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 58:10" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010438 name: triacylglycerol 58:11 measurement def: "The quantification of triacylglycerol 58:11 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 58:11" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010439 name: triacylglycerol 58:12 measurement def: "The quantification of triacylglycerol 58:12 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 58:12" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010440 name: triacylglycerol 58:6 measurement def: "The quantification of triacylglycerol 58:6 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 58:6" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010441 name: triacylglycerol 58:7 measurement def: "The quantification of triacylglycerol 58:7 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 58:7" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010442 name: triacylglycerol 58:8 measurement def: "The quantification of triacylglycerol 58:8 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 58:8" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010443 name: triacylglycerol 58:9 measurement def: "The quantification of triacylglycerol 58:9 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 58:9" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010444 name: triacylglycerol 60:12 measurement def: "The quantification of triacylglycerol 60:12 levels in some body fluid, used as a biomarker for disease." [] synonym: "TAG 60:12" EXACT [] xref: PMID:23823483 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010445 name: cocaine use disorder def: "A substance-related disorder that involves the recurring use of cocaine despite negative consequences. Cocaine use disorder is a diagnosis in DSM-5 that corresponds to two separate diagnoses in DSM-IV: cocaine abuse and cocaine dependence." [] xref: http://purl.obolibrary.org/obo/NCIT_C157819 is_a: MONDO:0002494 ! substance-related disorder property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010446 name: 2-hydroxyglutaric acid measurement def: "Quantification of 2-hydroxyglutaric acid levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010468 ! carboxylic acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010447 name: 3-hydroxyanthranilic acid measurement def: "Quantification of 3-hydroxyanthranilic acid levels in a sample." [] xref: PMID:23823483 is_a: EFO:0005134 ! amino acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010448 name: 3-hydroxyphenylacetic acid measurement def: "Quantification of 3-hydroxyphenylacetic acid levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010468 ! carboxylic acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010449 name: 3-methyladipic acid measurement def: "Quantification of 3-methyladipic acid levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010468 ! carboxylic acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010450 name: 3-phosphoglyceric acid def: "Quantification of 3-phosphoglyceric acid levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010523 ! phosphoglyceric acid measurement property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010451 name: aconitate measurement def: "Quantification of aconitate levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010467 ! carboxylic acid anion measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010452 name: adenosine diphosphate measurement def: "Quantification of adenosine diphosphate levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010513 ! nucleotide measurement is_a: EFO:0010968 ! phosphate measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010453 name: adenosine measurement def: "Quantification of adenosine levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010512 ! nucleoside measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010454 name: adenosine monophosphate measurement def: "Quantification of adenosine monophosphate levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010513 ! nucleotide measurement is_a: EFO:0010968 ! phosphate measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010455 name: adipic acid mesurement def: "Quantification of adipic acid levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010468 ! carboxylic acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010456 name: allantoin measurement def: "Quantification of allantoin levels in a sample." [] xref: PMID:23823483 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010457 name: Alpha ketoglutarate measurement def: "Quantification of alpha ketoglutarate levels in a sample." [] synonym: "alpha ketoglutaric acid" EXACT [] xref: PMID:23823483 is_a: EFO:0010468 ! carboxylic acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010458 name: alpha-hydroxybutyric acid measurement def: "Quantification of alpha-hydroxybutyric acid levels in a sample." [] synonym: "2-hydroxybutyric acid" EXACT [] xref: PMID:23823483 is_a: EFO:0010468 ! carboxylic acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010459 name: aminoadipic acid measurement def: "Quantification of aminoadipic acid levels in a sample." [] xref: PMID:23823483 is_a: EFO:0005134 ! amino acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010460 name: anthranilic acid measurement def: "Quantification of anthrallic acid levels in a sample." [] xref: PMID:23823483 is_a: EFO:0005134 ! amino acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010461 name: argininosuccinate measurement def: "Quantification of argininosuccinate levels in a sample." [] xref: PMID:23823483 is_a: EFO:0005134 ! amino acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010462 name: aspartate measurement def: "Quantification of aspartate levels in a sample." [] xref: PMID:23823483 is_a: EFO:0005134 ! amino acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010463 name: asymmetric dimethylarginine measurement def: "Quantification of asymmetric dimethylarginine levels in a sample." [] xref: PMID:23823483 is_a: EFO:0005134 ! amino acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010464 name: beta-aminoisobutyric acid measurement def: "Quantification of beta-aminoisobutyric acid levels in a sample." [] xref: PMID:23823483 is_a: EFO:0005134 ! amino acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010465 name: beta-hydroxybutyric acid measurement def: "Quantification of beta-hydroxybutyric acid levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010468 ! carboxylic acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010466 name: carboxamide measurement def: "Quantification of carboxamide levels in a sample." [] xref: PMID:23823483 is_a: EFO:0001444 ! measurement property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010467 name: carboxylic acid anion measurement def: "Quantification of carboxylic acid anion levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010514 ! organic anion measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010468 name: carboxylic acid measurement def: "Quantification of carboxylic acid levels in a sample." [] xref: PMID:23823483 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010469 name: carnitine measurement def: "Quantification of carnitine levels in a sample." [] xref: PMID:23823483 is_a: EFO:0005134 ! amino acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010470 name: carnosine measurement def: "Quantification of carnosine levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010520 ! peptide measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010471 name: chenodeoxycholate measurement def: "Quantification of chenodeoxycholate levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010467 ! carboxylic acid anion measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010472 name: creatine measurement def: "Quantification of creatine levels in a sample." [] xref: PMID:23823483 is_a: EFO:0005134 ! amino acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010473 name: cyclic adenosine monophosphate measurement def: "Quantification of cyclic adenosine monophosphate levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010513 ! nucleotide measurement is_a: EFO:0010968 ! phosphate measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010474 name: cystathionine measurement def: "Quantification of cystathionine levels in a sample." [] xref: PMID:23823483 is_a: EFO:0005134 ! amino acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010475 name: deoxycholate measurement def: "Quantification of chenodeoxycholate levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010467 ! carboxylic acid anion measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010476 name: dimethylglycine measurement def: "Quantification of dimethylglycine levels in a sample." [] xref: PMID:23823483 is_a: EFO:0005134 ! amino acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010477 name: fructose measurement def: "Quantification of fructose levels in a sample." [] xref: PMID:23823483 is_a: EFO:0004998 ! carbohydrate measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010478 name: fructose-1-phosphate measurement def: "Quantification of fructose-1-phosphate levels in a sample." [] xref: PMID:23823483 is_a: EFO:0004998 ! carbohydrate measurement is_a: EFO:0010968 ! phosphate measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010479 name: fructose-6-phosphate measurement def: "Quantification of fructose-6-phosphate levels in a sample." [] xref: PMID:23823483 is_a: EFO:0004998 ! carbohydrate measurement is_a: EFO:0010968 ! phosphate measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010480 name: fumarate measurement def: "Quantification of fumarate levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010467 ! carboxylic acid anion measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010481 name: galactose measurement def: "Quantification of galactose levels in a sample." [] xref: PMID:23823483 is_a: EFO:0004998 ! carbohydrate measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010482 name: gamma-aminoisobutyric acid measurement def: "Quantification of gamma-aminoisobutyric levels in a sample." [] xref: PMID:23823483 is_a: EFO:0005134 ! amino acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010483 name: gentisic acid measurement def: "Quantification of gentisic acid levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010468 ! carboxylic acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010484 name: glucose-1-phosphate measurement def: "Quantification of kglucose-1-phosphate levels in a sample." [] xref: PMID:23823483 is_a: EFO:0004998 ! carbohydrate measurement is_a: EFO:0010968 ! phosphate measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010485 name: glucose-6-phosphate measurement def: "Quantification of glucose-6-phosphate levels in a sample." [] xref: PMID:23823483 is_a: EFO:0004998 ! carbohydrate measurement is_a: EFO:0010968 ! phosphate measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010486 name: glucuronate measurement def: "Quantification of glucuronate levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010467 ! carboxylic acid anion measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010487 name: glutamate measurement def: "Quantification of glutamate levels in a sample." [] xref: PMID:23823483 is_a: EFO:0005134 ! amino acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010488 name: glycerol-3-phosphate measurement def: "Quantification of glycerol-3-phosphate levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010115 ! glycerol measurement is_a: EFO:0010968 ! phosphate measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010489 name: glycerophosphocholine measurement def: "Quantification of glycerophosphocholine levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010515 ! organic cation measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010490 name: glycochenodeoxycholate measurement def: "Quantification of glycochenodeoxycholate levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010467 ! carboxylic acid anion measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010491 name: glycocholate measurement def: "Quantification of glycocholate levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010467 ! carboxylic acid anion measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010492 name: glycocholic acid measurement def: "Quantification of glycocholic acid levels in a sample." [] xref: PMID:23823483 is_a: EFO:0004529 ! lipid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010493 name: glycodeoxycholate measurement def: "Quantification of glycodeoxycholate levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010467 ! carboxylic acid anion measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010494 name: guanosine diphosphate measurement def: "Quantification of guanosine diphosphate levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010513 ! nucleotide measurement is_a: EFO:0010968 ! phosphate measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010495 name: guanosine monophosphate measurement def: "Quantification of guanosine monophosphate levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010513 ! nucleotide measurement is_a: EFO:0010968 ! phosphate measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010496 name: hippuric acid measurement def: "Quantification of hippuric acid levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010468 ! carboxylic acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010497 name: hydroxide measurement def: "Quantification of hydroxide levels in a sample." [] xref: PMID:23823483 is_a: EFO:0001444 ! measurement property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010498 name: hydroxyproline measurement def: "Quantification of hydroxyproline levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010468 ! carboxylic acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010499 name: hyodeoxycholate measurement def: "Quantification of hyodeoxycholate levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010467 ! carboxylic acid anion measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010500 name: hypoxanthine mesurement def: "Quantification of hypoxanthine levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010526 ! purine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010501 name: indole-3-propionate measurement def: "Quantification of indole-3-propionate levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010467 ! carboxylic acid anion measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010502 name: indoxyl sulfate measurement def: "Quantification of indoxyl sulfate levels in a sample." [] xref: PMID:23823483 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010503 name: inosine measurement def: "Quantification of inosine levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010512 ! nucleoside measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010504 name: inositol measurement def: "Quantification of inositol levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010497 ! hydroxide measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010505 name: isocitrate measurement def: "Quantification of isocitrate levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010468 ! carboxylic acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010506 name: kynurenic acid measurement def: "Quantification of kynurenic acid levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010468 ! carboxylic acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010507 name: lactose measurement def: "Quantification of lactose levels in a sample." [] xref: PMID:23823483 is_a: EFO:0004998 ! carbohydrate measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010508 name: malate measurement def: "Quantification of malate levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010467 ! carboxylic acid anion measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010509 name: maleate measurement def: "Quantification of maleate levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010467 ! carboxylic acid anion measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010510 name: NG-monomethyl-arginine measurement def: "Quantification of NG-monomethyl-arginine levels in a sample." [] xref: PMID:23823483 is_a: EFO:0005134 ! amino acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010511 name: niacinamide measurement def: "Quantification of niacinamide levels in a sample." [] xref: PMID:23823483 is_a: EFO:0004729 ! vitamin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010512 name: nucleoside measurement def: "Quantification of nucleoside levels in a sample." [] xref: PMID:23823483 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010513 name: nucleotide measurement def: "Quantification of nucleotide levels in a sample." [] xref: PMID:23823483 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010514 name: organic anion measurement def: "Quantification of organic anion levels in a sample." [] xref: PMID:23823483 is_a: EFO:0001444 ! measurement property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010515 name: organic cation measurement def: "Quantification of organic cation levels in a sample." [] xref: PMID:23823483 is_a: EFO:0001444 ! measurement property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010516 name: orotic acid measurement def: "Quantification of orotic acid levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010468 ! carboxylic acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010517 name: oxalate measurement def: "Quantification of oxalate levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010467 ! carboxylic acid anion measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010518 name: oxide measurement def: "Quantification of oxide levels in a sample." [] xref: PMID:23823483 is_a: EFO:0001444 ! measurement property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010519 name: pantothenic acid mesurement def: "Quantification of pantothenic acid levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010466 ! carboxamide measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010520 name: peptide measurement def: "Quantification of peptide levels in a sample." [] xref: PMID:23823483 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010521 name: phosphocreatine measurement def: "Quantification of phosphocreatine levels in a sample." [] xref: PMID:23823483 is_a: EFO:0005134 ! amino acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010522 name: phosphoenolpyruvic acid measurement def: "Quantification of phosphoenolpyruvic acid levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010468 ! carboxylic acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010523 name: phosphoglyceric acid measurement def: "Quantification of phosphoglyceric acid levels in a sample." [] xref: PMID:23823483 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010524 name: pimelic acid measurement def: "Quantification of pimelic acid levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010468 ! carboxylic acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010525 name: propionic acid measurement def: "Quantification of propionic acid levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010468 ! carboxylic acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010526 name: purine measurement def: "Quantification of purine levels in a sample." [] xref: PMID:23823483 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010527 name: pyridoxate measurement def: "Quantification of pyridoxate levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010467 ! carboxylic acid anion measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010528 name: quinolinic acid measurement def: "Quantification of quinolinic acid levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010468 ! carboxylic acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010529 name: ribose-5-phosphate measurement def: "Quantification of ribose-5-phosphate levels in a sample." [] xref: PMID:23823483 is_a: EFO:0004998 ! carbohydrate measurement is_a: EFO:0010968 ! phosphate measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010530 name: ribulose-5-phosphate measurement def: "Quantification of ribulose-5-phosphate levels in a sample." [] xref: PMID:23823483 is_a: EFO:0004998 ! carbohydrate measurement is_a: EFO:0010968 ! phosphate measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010531 name: S-adenosylhomocysteine measurement def: "Quantification of S-adenosylhomocysteine levels in a sample." [] xref: PMID:23823483 is_a: EFO:0005134 ! amino acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010532 name: salicylurate measurement def: "Quantification of salicylurate levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010467 ! carboxylic acid anion measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010533 name: sorbitol measurement def: "Quantification of sorbitol levels in a sample." [] xref: PMID:23823483 is_a: EFO:0004998 ! carbohydrate measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010534 name: suberic acid measurement def: "Quantification of suberic acid levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010468 ! carboxylic acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010535 name: sucrose measurement def: "Quantification of sucrose levels in a sample." [] xref: PMID:23823483 is_a: EFO:0004998 ! carbohydrate measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010536 name: taurine measurement def: "Quantification of taurine levels in a sample." [] xref: PMID:23823483 is_a: EFO:0005134 ! amino acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010537 name: taurochenodeoxycholate measurement def: "Quantification of taurochenodeoxycholate levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010514 ! organic anion measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010538 name: taurocholate measurement def: "Quantification of taurocholate levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010514 ! organic anion measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010539 name: taurodeoxycholate measurement def: "Quantification of taurodeoxycholate levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010514 ! organic anion measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010540 name: thiamine measurement def: "Quantification of thiamine levels in a sample." [] xref: PMID:23823483 is_a: EFO:0004729 ! vitamin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010541 name: trimethylamine-N-oxide measurement def: "Quantification of trimethylamine-N-oxide levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010518 ! oxide measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010542 name: ureidopropionic acid measurement def: "Quantification of ureidopropionic acid levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010468 ! carboxylic acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010543 name: uridine diphosphate galactose measurement def: "Quantification of uridine diphosphate galactose levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010513 ! nucleotide measurement is_a: EFO:0010968 ! phosphate measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010544 name: uridine diphosphate glucose measurement def: "Quantification of uridine diphosphate glucose levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010513 ! nucleotide measurement is_a: EFO:0010968 ! phosphate measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010545 name: uridine diphosphate measurement def: "Quantification of uridine diphosphate levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010513 ! nucleotide measurement is_a: EFO:0010968 ! phosphate measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010546 name: uridine measurement def: "Quantification of uridine levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010512 ! nucleoside measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010547 name: ursodeoxycholate measurement def: "Quantification of ursodeoxycholate levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010467 ! carboxylic acid anion measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010548 name: xanthine measurement def: "Quantification of xanthine levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010526 ! purine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010549 name: xanthosine measurement def: "Quantification of xanthosine levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010526 ! purine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010550 name: sci-RNA-seq def: "The sci-RNA-seq uses the combinatorial indexing to identify single cells without single cell isolation. Two-level indexing (RT barcode + PCR barcodes (i5 + i7)) or three-level indexing (RT barcode + PCR barcodes (i5 + i7) + Tn5 barcodes) can be used. Three-level indexing is a bit more difficult since you need to assemble many indexed Tn5 transposomes." [] xref: PMID:28818938 is_a: EFO:0010183 ! single cell library construction property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0010551 name: xanthurenate measurement def: "Quantification of xanthurenate levels in a sample." [] xref: PMID:23823483 is_a: EFO:0010468 ! carboxylic acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010552 name: social environment measurement def: "A measurement of some aspect of an individual's social environment, including the people with whom they interact and the culture and behaviours to which they are exposed." [] xref: https://en.wikipedia.org/wiki/Social_environment xref: PMID:31490055 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010553 name: cocaine use measurement def: "A quantification of some aspect of cocaine use" [] xref: PMID:31591132 is_a: EFO:0006848 ! mental or behavioural disorder biomarker is_a: EFO:0007010 ! drug use measurement relationship: IAO:0000136 CHEBI:27958 ! is_about cocaine relationship: IAO:0000136 EFO:0002610 ! is_about cocaine dependence relationship: IAO:0000136 EFO:0010445 ! is_about cocaine use disorder property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010554 name: retinal vasculature measurement def: "A quantification of some aspect of the vasculature of the retina, for example retinal venular tortuousity." [] is_a: EFO:0004731 ! eye measurement relationship: IAO:0000136 UBERON:0000970 ! is_about eye property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010555 name: left ventricular stroke volume measurement def: "Quantification of the volume of blood pumped from the left ventricle of the heart with each beat, calculated by subtracting the volume of blood in the ventricle at the end of a beat (end-systolic volume) from the volume of blood just prior to the beat (end-diastolic volume)." [] xref: PMID:31554410 is_a: EFO:0004311 ! heart function measurement relationship: IAO:0000136 UBERON:0000948 ! is_about heart property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010556 name: Left ventricular mass to end-diastolic volume ratio def: "Quantification of the ratio of left ventricular mass to end-diastolic volume. Elevated left ventricular mass/end-diastolic volume ratio has been associated with higher evidence of myocardial fibrosis and dysfunction in hypertensive patients" [] xref: PMID:31554410 is_a: EFO:0004311 ! heart function measurement relationship: IAO:0000136 UBERON:0000948 ! is_about heart property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010557 name: lactose tolerance test def: "A test to determine the ability of an individual to metabolise lactose, an estimate of lactase activity. It includes measuring fasting blood glucose levels before and after oral lactose intake." [] xref: MedDRA:10052986 xref: PMID:31791255 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:1000062 ! is_about lactose intolerance property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010558 name: preprint def: "In academic publishing, a preprint is a version of a scholarly or scientific paper that precedes formal peer review and publication in a peer-reviewed scholarly or scientific journal." [] synonym: "pre-print" EXACT [] xref: http://orcid.org/0000-0002-8674-0039 xref: Wikipedia:Preprint is_a: EFO:0001742 ! publication status property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010559 name: anti-drug antibody measurement def: "Quantification of the levels of antibodies against biotherapeutic agents. Such antibodies can reduce treatment efficacy by neutralizing circulating immune-biologicals and/or promoting their clearance." [] xref: PMID:31600487 is_a: EFO:0004556 ! antibody measurement relationship: IAO:0000136 EFO:0009658 ! is_about adverse effect property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010560 name: neurodevelopmental disorder with ataxia, hypotonia, and microcephaly def: "An autosomal recessive neurodevelopmental disorder characterized by intellectual disability, microcephaly, ataxia, and muscular hypotonia." [] xref: OMIM:618569 is_a: EFO:1000017 ! autosomal recessive disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010561 name: neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies def: "An autosomal recessive neurodevelopmental disorder characterized by severe global developmental delay with motor impairment, cognitive delays, absent or severely limited speech, dysmorphic features, hypotonia and cataracts." [] xref: OMIM:618571 is_a: EFO:1000017 ! autosomal recessive disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010562 name: neurodevelopmental disorder with cerebellar hypoplasia and spasticity def: "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, profound intellectual disability, seizures, absent speech, spasticity, facial and limb dysmorphism, and subtle structural brain abnormalities including cerebellar hypoplasia." [] xref: OMIM:618572 is_a: EFO:1000017 ! autosomal recessive disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010563 name: neurodevelopmental disorder with structural brain anomalies and dysmorphic facies def: "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability, poor language, seizures, dysmorphic features, and thin corpus callosum." [] xref: OMIM:618577 is_a: MONDO:0000426 ! autosomal dominant disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010564 name: glycosylphosphatidylinositol biosynthesis defect 21 def: "An autosomal recessive disorder characterized by global developmental delay, severe-to-profound intellectual disability, muscular hypotonia, seizures, brain anomalies, including thin corpus callosum and cerebellar atrophy, scoliosis, and mild facial dysmorphism." [] synonym: "neurodevelopmental disorder with brain anomalies, seizures, and scoliosis" EXACT [] xref: OMIM:618590 is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0024321 ! disorder of GPI anchor biosynthesis is_a: Orphanet:309005 ! Disorder of lipid metabolism property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010565 name: myopathy, congenital, progressive, with scoliosis def: "An autosomal recessive muscular disorder characterized by infantile onset of progressive muscular atrophy, hypotonia, ptosis, scoliosis and dysmorphic facial features. Disease severity is variable, ranging from mild to severe." [] xref: OMIM:618578 is_a: EFO:1000017 ! autosomal recessive disease is_a: Orphanet:206634 ! Genetic skeletal muscle disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010566 name: intellectual developmental disorder 60 with seizures def: "An autosomal dominant disorder characterized by global developmental delay apparent in the first six months of life, followed by onset of seizures between 21 months and 4 years. Disease features include moderate-to-severe intellectual disability, poor speech, delayed walking, and ataxia." [] synonym: "intellectual disability, autosomal dominant 60, with seizures" EXACT [] xref: OMIM:618587 is_a: MONDO:0000426 ! autosomal dominant disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010567 name: spastic tetraplegia and axial hypotonia, progressive def: "An autosomal recessive, neurologic disorder characterized by loss of motor abilities in the first year of life, after which severe, progressive spastic tetraparesis develops. Affected individuals have severe axial hypotonia, hyperekplexia, hypertonia, and myokymia, reflecting upper motor neuron involvement. Cognitive development may be affected." [] synonym: "SOD1 deficiency, autosomal recessive" EXACT [] xref: OMIM:618598 is_a: EFO:1000017 ! autosomal recessive disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010568 name: neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities def: "An autosomal dominant neurodevelopmental disorder characterized by profound infantile-onset hypotonia, developmental delay with poor speech, delayed walking, and impaired intellectual development. Additional variable features include feeding difficulties, dysmorphic features, and visual defects." [] xref: OMIM:618603 is_a: MONDO:0000426 ! autosomal dominant disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010569 name: clinical modifier is_a: BFO:0000019 ! quality [Term] id: EFO:0010570 name: ventricular enlargement measurement def: "A quantification of some aspect of the enlargement of the ventricles of the brain." [] xref: PMID:31711042 is_a: EFO:0004464 ! brain measurement relationship: IAO:0000136 HP:0002119 ! is_about Ventriculomegaly relationship: IAO:0000136 UBERON:0004086 ! is_about brain ventricle property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010572 name: growth rate measurement def: "Quantification of the rate of growth of an organism, in terms of the change in body mass, height or other anthropometric measurement per unit of time" [] xref: PMID:31840077 is_a: EFO:0004324 ! body weights and measures property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010573 name: kallikrein-11 measurement def: "Quantification of the amount of kallikrein-11 in a sample." [] xref: PMID:25147954 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010574 name: epithelial cell adhesion molecule measurement def: "Quantification of the amount of epithelial cell adhesion molecule in a sample." [] xref: PMID:25147954 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010575 name: vascular endothelial growth factor D measurement def: "Quantification of the amount of Vascular Endothelial Growth Factor D in the sample." [] xref: PMID:25147954 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010576 name: liver fibrosis measurement def: "Quantification of the invasion of fibrous connective tissue into the liver, typically by histological assessment of biopsy samples." [] xref: PMID:31832568 is_a: EFO:0006845 ! liver disease biomarker relationship: IAO:0000136 HP:0001395 ! is_about Hepatic fibrosis relationship: IAO:0000136 UBERON:0002107 ! is_about liver property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010577 name: response to dimethyl fumarate def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of stimulus with dimethyl fumarate" [] is_a: GO:0009410 ! response to xenobiotic stimulus relationship: OBI:0000293 CHEBI:76004 ! has_input dimethyl fumarate property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010578 name: complex trait def: "A trait which cannot be accurately represented using standard EFO terms, e.g. a statistical combination of many unrelated traits. This term may also be used as a parent term for GWAS Catalog entries which include many analyses on unrelated traits." [] is_a: BFO:0000019 ! quality property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010579 name: proteome def: "The actual total expressed protein complement of an organism or the identifiable proteins of a single tissue or cell type or subcellular compartment." [] synonym: "total expressed protein" EXACT [] xref: NCIt:C18276 is_a: BFO:0000040 ! material entity property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010580 name: blastic plasmacytoid dendritic cell neoplasm def: "A clinically aggressive neoplasm derived from the precursors of plasmacytoid dendritic cells (also called professional type I interferon-producing cells or plasmacytoid monocytes), with a high frequency of cutaneous and bone marrow involvement and leukemic dissemination. (WHO 2017) [ NCI ]" [] def: "An aggressive immature hematologic neoplasm formerly known as blastic NK cell lymphoma, composed of cells with a lymphoblast-like morphology. Recent evidence suggests derivation from a plasmacytoid monocyte. Patients present with cutaneous tumors and bone marrow involvement." [NCIT:C7203] subset: gard_rare subset: ordo_disease {source="Orphanet:86870"} synonym: "Agranular CD4+ CD56+ Hematodermic Neoplasm/Tumor" EXACT [] synonym: "agranular CD4+ CD56+ hematodermic neoplasm/tumor" EXACT [NCIT:C7203] synonym: "agranular CD4+ natural Killer cell leukaemia" EXACT OMO:0003005 [] synonym: "Agranular CD4+ Natural Killer Cell Leukemia" EXACT [] synonym: "agranular CD4+ natural Killer cell leukemia" EXACT [NCIT:C7203] synonym: "Blastic Natural Killer Leukemia/Lymphoma" EXACT [] synonym: "blastic natural Killer leukemia/lymphoma" EXACT [NCIT:C7203] synonym: "Blastic NK-Cell Lymphoma" EXACT [] synonym: "blastic NK-cell lymphoma" EXACT [NCIT:C7203, Orphanet:86870] synonym: "blastic plasmacytoid dendritic cell" RELATED [GARD:0010556] synonym: "blastic plasmacytoid Dendritic cell neoplasm" EXACT [NCIT:C7203] synonym: "blastic plasmacytoid dendritic cell neoplasm" EXACT [Orphanet:86870] synonym: "BPDCN" EXACT ABBREVIATION [Orphanet:86870] synonym: "CD4+/CD56+ Hematodermic Neoplasm" EXACT [] synonym: "CD4+/CD56+ hematodermic neoplasm" EXACT [GARD:0010556, NCIT:C7203] synonym: "CD4+/CD56+ hematodermic neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "early plasmacytoid Dendritic cell leukemia/lymphoma" EXACT [NCIT:C7203] synonym: "lymphoblastoid variant of NK-cell lymphoma" EXACT [GARD:0010556, Orphanet:86870] synonym: "Monomorphic NK-Cell Lymphoma" EXACT [] synonym: "monomorphic NK-cell lymphoma" EXACT [GARD:0010556, NCIT:C7203, Orphanet:86870] synonym: "primary cutaneous CD4+/CD56+ hematolymphoid neoplasm" EXACT [NCIT:C7203] xref: DOID:0081076 {source="MONDO:equivalentTo"} xref: ICD9:202.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9727/3 {source="NCIT:C7203"} xref: MONDO:0019467 xref: NCIT:C7203 {source="MONDO:equivalentTo"} xref: NCIt:C7203 xref: ONCOTREE:BPDCN {source="MONDO:equivalentTo"} xref: Orphanet:86870 {source="MONDO:equivalentTo", source="GARD:0010556"} xref: SCTID:445105005 {source="MONDO:equivalentTo"} xref: UMLS:C1301363 {source="MONDO:equivalentTo", source="NCIT:C7203", source="GARD:0010556"} xref: UMLS:CN206246 {source="MONDO:equivalentTo"} is_a: EFO:0002427 {source="NCIT:C7203", source="ONCOTREE:BPDCN/inferred"} ! myeloid neoplasm is_a: MONDO:0002898 {source="NCIT:C7203"} ! skin cancer is_a: MONDO:0015760 {source="Orphanet:86870"} ! T-cell non-Hodgkin lymphoma is_a: MONDO:0100118 ! hereditary skin disorder property_value: dc-creator "paola" xsd:string property_value: exactMatch DOID:0081076 property_value: exactMatch http://identifiers.org/snomedct/445105005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1301363 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206246 property_value: exactMatch NCIT:C7203 property_value: exactMatch Orphanet:86870 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10556/blastic-plasmacytoid-dendritic-cell xsd:anyURI {source="GARD:0010556"} [Term] id: EFO:0010581 name: organophosphate poisoning def: "Poisoning due to organophosphates (a class of organophosphorus compounds also known as phosphate esters, or OPEs). Organophosphates are used as insecticides, medications, and nerve agents. Symptoms include increased saliva and tear production, diarrhea, vomiting, small pupils, sweating, muscle tremors, and confusion." [] synonym: "organophosphorus poisoning" EXACT [] synonym: "organothiophosphate poisoning" EXACT [] xref: MedDRA:10078290 xref: MeSH:68062025 xref: Wikipedia:Organophosphate_poisoning is_a: EFO:0008546 ! poisoning property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010582 name: Morton Neuroma def: "Swelling and inflammation of the nerve between the ends of the metatarsal bones at the base of the toes. It is caused by compression of the nerve, usually between the third and fourth toes. It results in a burning, sharp pain and numbness on the bottom of the foot in the area involved. Symptoms may resolve by resting the foot, taking anti-inflammatory drugs, applying ice packs, or injecting cortisone at the site. Persistent symptoms require surgical excision of the affected nerve. [def-source: NCI]" [] synonym: "interdigital nerve scar" EXACT [] synonym: "interdigital neuroma" EXACT [] synonym: "Morton's neuroma" EXACT [] xref: NCIt:C4075 is_a: EFO:0009619 ! neuroma property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010583 name: alpha fetoprotein measurement def: "Quantification of the amount of alpha fetoprotein in a sample, typically serum" [] synonym: "alpha-1-fetoprotein measurement" EXACT [] synonym: "alpha-fetoglobulin measurement" EXACT [] xref: PMID:31666285 is_a: EFO:0005127 ! cancer biomarker measurement is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010584 name: cancer antigen 19.9 measurement def: "Quantification of the amount of cancer antigen 19.9 in a sample, typically serum." [] xref: PMID:31666285 is_a: EFO:0005127 ! cancer biomarker measurement is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010585 name: cancer antigen 15.3 measurement def: "Quantification of the amount of cancer antigen 15.3 in a sample, typically serum." [] xref: PMID:31666285 is_a: EFO:0005127 ! cancer biomarker measurement is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010586 name: CD40 measurement def: "quantification of the amount of CD40 in a sample" [] synonym: "CD40" EXACT [] synonym: "CD40L receptor" EXACT [] xref: PMID:28915241 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010587 name: interleukin-2 receptor subunit alpha measurement def: "quantification of the amount of interleukin-2 receptor subunit alpha in a sample" [] synonym: "IL2RA" EXACT [] xref: PMID:28915241 is_a: EFO:0004873 ! cytokine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010588 name: matrix metalloproteinase 1 measurement def: "quantification of the amount of matrix metalloproteinase 1 in a sample" [] synonym: "MMP-1" EXACT [] xref: PMID:28915241 is_a: EFO:0004744 ! matrix metalloproteinase measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010589 name: matrix metalloproteinase 10 measurement def: "quantification of the amount of matrix metalloproteinase 10 in a sample" [] synonym: "MMP-10" EXACT [] xref: PMID:28915241 is_a: EFO:0004744 ! matrix metalloproteinase measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010590 name: matrix metalloproteinase 12 measurement def: "quantification of the amount of matrix metalloproteinase 12 in a sample" [] synonym: "MMP-12" EXACT [] xref: PMID:28915241 is_a: EFO:0004744 ! matrix metalloproteinase measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010591 name: matrix metalloproteinase 7 measurement def: "quantification of the amount of matrix metalloproteinase 7 in a sample" [] synonym: "MMP-7" EXACT [] xref: PMID:28915241 is_a: EFO:0004744 ! matrix metalloproteinase measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010592 name: tumor necrosis factor ligand superfamily member 8 measurement def: "quantification of the amount of tumor necrosis factor ligand superfamily member 8 in a sample" [] synonym: "CD30-L" EXACT [] xref: PMID:28915241 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010593 name: cystatin B measurement def: "quantification of the amount of cystatin B in a sample" [] synonym: "Cystatin B" EXACT [] xref: PMID:28915241 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010594 name: obsolete_Fms-related tyrosine kinase 3 ligand measurement def: "quantification of the amount of Fms-related tyrosine kinase 3 ligand in a sample" [] synonym: "Flt3L" EXACT [] xref: PMID:28915241 property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.58.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication" xsd:string property_value: IAO:0000117 "Elizabeth Lewis" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0010785 [Term] id: EFO:0010595 name: heat shock protein beta-1 measurement def: "quantification of the amount of heat shock protein beta-1 in a sample" [] synonym: "HSP_27" EXACT [] xref: PMID:28915241 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010596 name: monocyte chemotactic protein 1 measurement def: "quantification of the amount of monocyte chemotactic protein 1 in a sample" [] synonym: "MCP-1" EXACT [] xref: PMID:28915241 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010597 name: NF-kappa-B essential modulator measurement def: "quantification of the amount of NF-kappa-B essential modulator in a sample" [] synonym: "NEMO" EXACT [] xref: PMID:28915241 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010598 name: platelet endothelial cell adhesion molecule measurement def: "quantification of the amount of platelet endothelial cell adhesion molecule in a sample" [] synonym: "PECAM-1" EXACT [] xref: PMID:28915241 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010599 name: ST2 protein measurement def: "quantification of the amount of ST2 protein in a sample" [] synonym: "ST2" EXACT [] xref: PMID:28915241 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010600 name: angiopoietin-1 receptor measurement def: "quantification of the amount of angiopoietin-1 receptor in a sample" [] synonym: "TIE2" EXACT [] xref: PMID:28915241 is_a: EFO:0006900 ! endothelial growth factor measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010601 name: hepatitis A virus cellular receptor 1 measurement def: "quantification of the amount of hepatitis A virus cellular receptor 1 in a sample" [] synonym: "TIM" EXACT [] xref: PMID:28915241 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010602 name: brain age measurement def: "Quantification or estimate of the age of the brain, e.g. as derived from brain MRI features." [] xref: PMID:31776335 is_a: EFO:0004464 ! brain measurement relationship: IAO:0000136 GO:0007568 ! is_about aging relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010603 name: cancer antigen 125 measurement def: "Quantification of the amount of cancer antigen 125 in a sample, typically serum." [] xref: PMID:31666285 is_a: EFO:0005127 ! cancer biomarker measurement is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010604 name: urine volume measurement def: "Quantification of the amount of urine voided" [] synonym: "urinary volume measurement" EXACT [] xref: PMID:31993563 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 GO:0060073 ! is_about micturition property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0010605 name: brain stem volume measurement def: "Quantification of the volume of the brainstem." [] xref: PMID: 31636452 is_a: EFO:0006930 ! brain volume measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010606 name: sclerostin measurement def: "Quantification of the amount of sclerostin in a sample." [] xref: PMID:31170332 is_a: EFO:0004555 ! glycoprotein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010607 name: tumor necrosis factor, receptor superfamily, member 5 measurement def: "quantification of the amount of tumor necrosis factor receptor superfamily member 5 in a sample" [] xref: PMID:28369058 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010608 name: stromelysin‐1 measurement def: "quantification of the amount of mucin 16 in a sample" [] xref: PMID:28369058 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010609 name: mucin‐16 measurement def: "quantification of the amount of stromelysin 1 in a sample" [] xref: PMID:28369058 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010610 name: tumor necrosis factor receptor superfamily member 6 measurement def: "quantification of the amount of tumor necrosis factor receptor superfamily member 6 in a sample" [] synonym: "FAS ligand (FASLG) receptor measurement" EXACT [] xref: PMID:28369058 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010611 name: cathepsin D measurement def: "quantification of the amount of cathepsin D in a sample" [] xref: PMID:28369058 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010612 name: kit ligand measurement def: "quantification of the amount of kit ligand in a sample" [] xref: PMID:28369058 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010613 name: tumor necrosis factor ligand superfamily member 14 measurement def: "quantification of the amount of tumor necrosis factor receptor superfamily member 14 in a sample" [] xref: PMID:28369058 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010614 name: follistatin measurement def: "quantification of the amount of follistatin in a sample" [] xref: PMID:28369058 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010615 name: galanin peptides measurement def: "quantification of the amount of galanin peptides in a sample" [] xref: PMID:28369058 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010616 name: renin measurement def: "quantification of the amount of reninpeptides in a sample" [] xref: PMID:28369058 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010617 name: tumor necrosis factor ligand superfamily member 11 measurement def: "quantification of the amount of tumor necrosis factor receptor superfamily member 11 in a sample" [] xref: PMID:28369058 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010618 name: pappalysin‐1 measurement def: "quantification of pappalysin 1 in a sample" [] xref: PMID:28369058 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010619 name: cathepsin L1 measurement def: "quantification of cathepsin L1 in a sample" [] xref: PMID:28369058 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010620 name: dickkopf‐related protein 1 measurement def: "quantification of dickkopf‐related protein 1 in a sample" [] xref: PMID:28369058 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010621 name: stromelysin‐2 measurement def: "quantification of stromelysin 2 in a sample" [] xref: PMID:28369058 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010622 name: kallikrein‐6 measurement def: "quantification of kallikrein 6 in a sample" [] xref: PMID:28369058 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010623 name: tissue factor measurement def: "quantification of tissue factor in a sample" [] xref: PMID:28369058 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010624 name: tumor necrosis factor receptor superfamily member 1B measurement def: "quantification of tumor necrosis factor receptor superfamily member 1B in a sample" [] xref: PMID:28369058 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010625 name: xaa‐pro aminopeptidase 2 measurement def: "quantification of xaa‐pro aminopeptidase 2 in a sample" [] xref: PMID:28369058 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010626 name: placenta growth factor measurement def: "quantification of placenta growth factor in a sample" [] xref: PMID:28369058 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010627 name: pro‐adrenomedullin measurement def: "quantification of pro‐adrenomedullin in a sample" [] xref: PMID:28369058 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010628 name: natriuretic peptides B measurement def: "quantification of natriuretic peptides B in a sample" [] xref: PMID:28369058 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010629 name: pro‐interleukin‐16 measurement def: "quantification of pro‐interleukin 16 in a sample" [] xref: PMID:28369058 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010630 name: intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies def: "An autosomal dominant disorder characterized by delayed development, speech delay with nasal speech, and characteristic facial features including upslanted palpebral fissures, anteverted nares, a thin upper lip, and micrognathia. Some patients may have skeletal anomalies, such as brachydactyly, toe syndactyly and flat feet." [] xref: OMIM:618608 is_a: MONDO:0000426 ! autosomal dominant disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010631 name: neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies def: "An autosomal recessive disorder characterized by severe global developmental delay, severely impaired intellectual development with poor or absent speech, severe encephalopathy, microcephaly with simplified gyral pattern, hypomyelination, thin corpus callosum, mild cerebellar hypoplasia, brainstem hypoplasia, congenital arthrogryposis, dysmorphic features, and respiratory problems often leading to early demise." [] xref: OMIM:618622 is_a: EFO:1000017 ! autosomal recessive disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010632 name: Lessel-Kubisch syndrome def: "An autosomal recessive progeroid syndrome characterized by short stature, pinched facial features, prematurely gray hair, scleroderma-like skin changes, small kidneys and consecutive kidney failure, followed by severe arterial hypertension." [] xref: OMIM:618681 is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0015333 ! progeroid syndrome property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010633 name: Siddiqi syndrome def: "An autosomal recessive disorder characterized by early-onset progressive sensorineural hearing impairment, global developmental delay, regression of motor skills, dystonia, and low body mass index. Some patients have an ichthosis-like appearance of the skin and signs of sensory neuropathy." [] xref: OMIM:618635 is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0002254 ! syndromic disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010634 name: Snijders Blok-Fisher syndrome def: "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, hypotonia, intellectual disability, autistic features, impairments in speech and language skills, and dysmorphic features including abnormal, cupped, or prominent ears and ocular anomalies." [] xref: OMIM:618604 is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0002254 ! syndromic disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010635 name: Weiss-Kruszka syndrome def: "An autosomal dominant, multiple congenital anomaly syndrome with variable expressivity and complete penetrance. Patients manifest developmental delay, hypotonia, feeding difficulties, craniofacial abnormalities including ptosis, abnormal head shape, downslanting palpebral fissures, metopic ridging, and craniosynostosis. Variable congenital heart defects can be observed in some patients. A few patients show agenesis of the corpus callosum on brain imaging." [] xref: OMIM:618619 is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0002254 ! syndromic disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010636 name: pontocerebellar hypoplasia type 13 def: "A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH13 is an autosomal recessive form characterized by delayed psychomotor development, absent speech, severe intellectual disability and postnatal microcephaly, with brain malformations consisting of cerebellar atrophy and hypoplastic corpus callosum. Additional features, including seizures and visual impairment, are variable." [] xref: OMIM:618606 is_a: Orphanet:98523 ! Non-syndromic pontocerebellar hypoplasia property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010637 name: salivary metabolite measurement def: "Quantification of some metabolite in saliva." [] is_a: EFO:0004725 ! metabolite measurement property_value: definition:citation PMID:31960908 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010638 name: atopic asthma def: "An asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold." [] synonym: "allergic asthma" EXACT [] xref: MedDRA:10003638 is_a: MONDO:0004979 ! asthma property_value: definition:citation DOID:9415 xsd:string property_value: definition:citation PMID:31669095 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010639 name: pain measurement def: "Quantification of levels of pain." [] is_a: EFO:0001444 ! measurement property_value: definition:citation PMID:31669095 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010640 name: chronic post-operative pain measurement def: "Quantification of pain that develops after a surgical procedure, and is present for at least 3 months after the procedure." [] is_a: EFO:0010639 ! pain measurement property_value: definition:citation PMID:31669095 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:0010641 name: 3-ureidopropionate measurement def: "A quantification of the levels of 3-ureidopropionate in a sample." [] synonym: "N-carbamoyl-beta-alaninate measurement" EXACT [] synonym: "ureidopropionate measurement" EXACT [] xref: HMDB:HMDB0000026 xref: KEGG COMPOUND:C02642 xref: PMID:31960908 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:11892 ! is_about N-carbamoyl-beta-alaninate property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010642 name: Neurodevelopmental disorder def: "A behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions." [SCTID:700364009] def: "A childhood disorder that has a neurological basis and manifests as a developmental disability." [] synonym: "Child Mental Disorder" EXACT [] synonym: "Child Mental Disorders" EXACT [] synonym: "Disorder, Child Mental" EXACT [] synonym: "Disorder, Neurodevelopmental" EXACT [] synonym: "Disorders Usually Diagnosed in Infancy, Childhood or Adolescence" EXACT [] synonym: "Disorders, Child Mental" EXACT [] synonym: "Disorders, Neurodevelopmental" EXACT [] synonym: "Mental Disorder, Child" EXACT [] synonym: "Mental Disorders Diagnosed in Childhood" EXACT [] synonym: "Mental Disorders, Child" EXACT [] synonym: "Neurodevelopmental Disorder" EXACT [] synonym: "neurodevelopmental disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "Neurodevelopmental Disorders" EXACT [] xref: MedDRA:10064062 xref: MedDRA:C1535926 xref: MedGen:C1535926 xref: MESH:D065886 {source="MONDO:equivalentTo"} xref: MONDO:0700092 xref: NCIT:C1535926 {source="MONDO:equivalentTo"} xref: NCIT:C89338 {source="MONDO:equivalentTo"} xref: NCIt:C89338 xref: SCTID:700364009 {source="MONDO:equivalentTo"} xref: SNOMEDCT:700364009 xref: UMLS:C1535926 {source="MONDO:equivalentTo"} is_a: EFO:0000618 {source="https://orcid.org/0000-0002-1780-5230"} ! nervous system disease is_a: EFO:0009386 ! central nervous system disease property_value: exactMatch http://identifiers.org/mesh/D065886 property_value: exactMatch http://identifiers.org/snomedct/700364009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1535926 property_value: exactMatch NCIT:C1535926 property_value: exactMatch NCIT:C89338 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3410 xsd:anyURI [Term] id: EFO:0010643 name: Snijders Blok-Campeau syndrome def: "Snijders Blok-Campeau syndrome (SNIBCPS) is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and delayed speech acquisition. Affected individuals tend to have expressive language deficits, with speech apraxia and dysarthria. Other features include macrocephaly and characteristic facial features, such as prominent forehead and hypertelorism, hypotonia, and joint laxity. The severity of the neurologic deficits and presence of nonneurologic features is variable (summary by Snijders Blok et al., 2018)." [] synonym: "intellectual developmental disorder with macrocephaly, speech delay and dysmorphic facies" EXACT [] synonym: "SNIBCPS" EXACT [] xref: MedGen:C4748701 xref: OMIM:618205 is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0002254 ! syndromic disease [Term] id: EFO:0010644 name: Developmental delay with variable intellectual impairment and behavioural abnormalities def: "Developmental delay with variable intellectual impairment and behavioral abnormalities (DDVIBA) is an autosomal dominant neurodevelopmental disorder. Most patients have impaired intellectual development with speech difficulties, and many have behavioral abnormalities, most commonly autism spectrum disorder (ASD), defects in attention, and/or hyperactivity. Many patients have dysmorphic features, although there is not a consistent gestalt. Additional more variable features may include hypotonia, somatic overgrowth with macrocephaly, mild distal skeletal anomalies, sleep disturbances, movement disorders, and gastrointestinal issues, such as constipation. The phenotype is highly variable (summary by Vetrini et al., 2019 and Torti et al., 2019)." [] synonym: "DDVIBA" EXACT [] xref: OMIM:618430 is_a: EFO:0000508 ! genetic disorder property_value: definition:citation MedGen:CN258437 xsd:string [Term] id: EFO:0010645 name: Cardiac-urogenital syndrome def: "Cardiac-urogenital syndrome is characterized by partial anomalous pulmonary venous return in association with tracheal anomalies, pulmonary hypoplasia, congenital diaphragmatic hernia, thyroid fibrosis, thymic involution, cleft spleen, penoscrotal hypospadias, and cryptorchidism (Pinz et al., 2018)." [] synonym: "CUGS" EXACT [] is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0002254 ! syndromic disease property_value: definition:citation OMIM:618280 xsd:string [Term] id: EFO:0010646 name: genetic non-acquired premature ovarian failure xref: OMIM:618723 xref: Orphanet:485382 is_a: EFO:0009549 ! female reproductive system disease is_a: MONDO:0015514 ! hereditary endocrine growth disease [Term] id: EFO:0010647 name: STAT3 gain of function def: "STAT3 GOF is a rare genetic disorder of the immune system. Signal transducer and activator of transcription 3 (STAT3) is a transcription factor which is encoded by the STAT3 gene in humans. Germline gain-of-function (GOF) mutations in the gene STAT3 causes this early-onset autoimmune disease characterized by lymphadenopathy, autoimmune cytopenias, multiorgan autoimmunity, infections, eczema, and short stature." [] synonym: "STAT3 GOF" EXACT [] xref: MedGen:C4288261 is_a: EFO:0000508 ! genetic disorder is_a: EFO:0005140 ! autoimmune disease property_value: definition:citation NCIt:C126345 xsd:string property_value: definition:citation Wikipedia:STAT3_GOF xsd:string [Term] id: EFO:0010648 name: response to vitamin B3 def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin B3 stimulus." [] synonym: "response to niacin" EXACT [] is_a: GO:0033273 ! response to vitamin property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010649 name: immunophenotype def: "The characteristics of a set of cells according to the (surface level) antigens expressed." [] synonym: "FACS marker" EXACT [] synonym: "FACS_marker" EXACT [] synonym: "immuno phenotype" EXACT [] synonym: "immuno-phenotype" EXACT [] synonym: "immuno_phenotype" EXACT [] xref: https://orcid.org/0000-0002-8674-0039 xref: NCIt:C20072 is_a: EFO:0000651 ! phenotype property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010650 name: creativity measurement def: "A quantification of an individual's creativity, i.e. capacity to produce new or original ideas, insights or inventions." [] xref: PMID:32133506 is_a: EFO:0007911 ! personality trait measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010651 name: intellectual developmental disorder with impaired language and dysmorphic facies def: "An autosomal dominant disorder characterized by intellectual disability, developmental delay, impaired language development, and dysmorphic features including telecanthus, epicanthus, arched eyebrows and low-set ears. Additional features include feeding difficulties, mild cardiac or genitourinary defects, and distal skeletal anomalies." [] xref: OMIM:618653 is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0002254 ! syndromic disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010652 name: intellectual developmental disorder with short stature and behavioral abnormalities def: "An autosomal recessive disorder with onset in infancy and characterized by intellectual disability, developmental delay, short stature, aphasia, and hypotonia. Additional features include seizures and behavioral abnormalities, such as inattention, hyperactivity and aggression." [] xref: DOID:0111674 xref: OMIM:618687 is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0002254 ! syndromic disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010653 name: intellectual developmental disorder with speech delay, autism and dysmorphic facies def: "An autosomal dominant disorder characterized by mild to severe intellectual disability, developmental delay, delayed or absent speech, hypotonia, short stature, autistic features, and highly variable dysmorphic facial features." [] xref: OMIM:618672 is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0002254 ! syndromic disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010654 name: intellectual developmental disorder, autosomal recessive 72 def: "A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic intellectual disability, while syndromic intellectual disability presents with associated physical, neurological and/or psychiatric manifestations. MRT72 patients manifest moderate to severe intellectual disability, microcephaly, and dysmorphic facial features." [] synonym: "intellectual disability, autosomal recessive 72" EXACT [] xref: OMIM:618665 is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0002254 ! syndromic disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010655 name: megabladder, congenital def: "An autosomal dominant congenital anomaly characterized by a massively dilated urinary bladder with disrupted smooth muscle in the bladder wall. MGBL is a sex-limited trait with 95% male predominance, and incomplete penetrance. Affected males frequently die in utero." [] xref: OMIM:618719 is_a: MONDO:0000426 ! autosomal dominant disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010656 name: mitochondrial complex V deficiency, nuclear type 6 def: "An autosomal recessive mitochondrial disorder characterized by gross motor developmental delay manifesting in the first years of life, and subsequent episodic developmental regression. The episodes are associated with metabolic stress, including fever, illness, and general anesthesia. Patients develop gait difficulties or loss of ambulation, as well as other variable abnormalities, including abnormal movements, hemiplegia, and persistent lethargy. Brain imaging shows degenerative features in the basal ganglia and brainstem consistent with a diagnosis of Leigh syndrome." [] synonym: "mitochondrial complex V (ATP synthase) deficiency, nuclear type 6" EXACT [] xref: OMIM:618683 is_a: MONDO:0000066 ! mitochondrial complex deficiency property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010657 name: neurodevelopmental disorder with absent language and variable seizures def: "A disorder characterized by neurodevelopmental abnormalities, including moderate to profound intellectual disability, with autistic features, seizures, severe impairments in speech, and gross motor delay." [] synonym: "Ito-Raymond syndrome" EXACT [] xref: OMIM:618707 is_a: MONDO:0002254 ! syndromic disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010658 name: neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia def: "An autosomal recessive disorder characterized by global developmental delay with severely impaired intellectual development, impaired motor development, axial and peripheral hypotonia, poor speech and significant behavioral abnormalities, including autism spectrum disorder, hyperactivity, mood disorders, aggression, hand and face stereotypies, sleep disturbances, anxiety, self-injurious behavior, and bruxism." [] xref: OMIM:618718 is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0002254 ! syndromic disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010659 name: neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies def: "An autosomal dominant disorder characterized by intellectual disability, developmental delay, poor language acquisition, behavioural abnormalities, growth failure, feeding difficulties, microcephaly, facial dysmorphism, and mild skeletal anomalies of the hands and feet." [] xref: OMIM:618659 is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0002254 ! syndromic disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010660 name: neurodevelopmental disorder with macrocephaly and with or without seizures def: "An autosomal dominant neurodevelopmental disorder characterized by impaired intellectual development, developmental delay of varying severity, impaired motor skills and language delay. Additional clinical features include macrocephaly, obesity, overgrowth, craniofacial dysmorphism, epilepsy, and variable behavioral manifestations including autism and attention deficit hyperactivity disorder." [] synonym: "neurodevelopmental disorder with macrocephaly and seizures" EXACT [] xref: OMIM:618725 is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0002254 ! syndromic disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010661 name: neurodevelopmental disorder with non-specific brain abnormalities and with or without seizures def: "An autosomal dominant disorder characterized by developmental delay, intellectual disability, seizures, autism spectrum disorder, behavioral abnormalities, and variable non-specific brain malformations." [] synonym: "neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures" EXACT [] xref: OMIM:618709 is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0002254 ! syndromic disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010662 name: neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies def: "An autosomal recessive, congenital neurodevelopmental disorder characterized by intrauterine growth retardation, microcephaly, marked developmental delay, spastic quadriplegia with profound contractures, pseudobulbar palsy with recurrent aspirations, epilepsy, dysmorphism, neurosensory deafness, optic nerve atrophy with no eye fixation, and death in early childhood. Brain imaging shows semilobar holoprosencephaly and agenesis of corpus callosum." [] xref: OMIM:618651 is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0002254 ! syndromic disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010663 name: neurooculocardiogenitourinary syndrome def: "An autosomal dominant multisystem disorder characterized by significant neurological impairment with structural brain defects and seizures, poor feeding, poor postnatal growth, ocular anomalies, dysmorphic facial features, and variable skeletal, cardiac and genitourinary defects. Death in infancy may occur." [] xref: OMIM:618652 is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0002254 ! syndromic disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010664 name: pulmonary fibrosis, and/or bone marrow failure, telomere-related, 5 def: "A disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length. PFBMFT5 inheritance is autosomal dominant." [] xref: OMIM:618674 is_a: MONDO:0000148 ! pulmonary fibrosis and/or bone marrow failure, telomere-related is_a: MONDO:0000426 ! autosomal dominant disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010665 name: short stature and microcephaly with genital anomalies def: "An autosomal recessive disease characterized by growth failure resulting in severe short stature, severe microcephaly, and delayed and dissociated bone age. Additional features include global psychomotor developmental delay, pubertal delay and genital anomalies." [] xref: OMIM:618702 is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0002254 ! syndromic disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010666 name: airway submucosal gland def: "Gland in the submucosal walls of the airways." [] comment: Made as a placeholder for AE anatomagrams, term should be requested in UBERON. is_a: UBERON:0002530 ! gland relationship: part_of UBERON:0002185 ! bronchus property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0010667 name: endothelial cell of respiratory system lymphatic vessel def: "An endothelial cell that is part of the respiratory system lymphatic vessel." [] comment: Made as a placeholder for AE anatomagrams, term should be requested in CL. is_a: CL:0000115 ! endothelial cell relationship: part_of UBERON:0003456 ! respiratory system lymphatic vessel property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0010668 name: lung capillary endothelial cell def: "An endothelial cell found in lung capillaries." [] comment: Made as a placeholder for AE anatomagrams, term should be requested in CL. is_a: CL:0002144 ! capillary endothelial cell is_a: EFO:0001986 ! lung structure relationship: part_of UBERON:0016405 ! pulmonary capillary property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0010669 name: lung pericyte cell def: "A pericyte derived from the lung." [] comment: Made as a placeholder for AE anatomagrams, term should be requested in CL. is_a: CL:0000669 ! pericyte relationship: part_of UBERON:0000065 ! respiratory tract property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0010670 name: abnormal chest sounds def: "Any abnormal sound(s) of the chest." [] synonym: "chest sound abnormal" EXACT [] xref: ICD9:786.7 xref: MedDRA:10000120 xref: SNOMEDCT:72471000119101 xref: SYMP:0000587 is_a: EFO:0003765 ! sign or symptom property_value: IAO:0000117 https://orcid.org/0000-0002-5495-4198 xsd:string [Term] id: EFO:0010671 name: arterial embolism def: "An arterial embolism occurs when a foreign substance or tissue mass gets lodged in an artery and obstructs the blood flow. " [] synonym: "arterial embolus" EXACT [] synonym: "artery embolism" EXACT [] synonym: "embolism of artery" EXACT [] synonym: "embolus of artery" EXACT [] xref: NCIt:C111117 xref: PMID:23724391 xref: SNOMEDCT:54687002 is_a: MONDO:0000473 ! arterial disorder property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0010672 name: blood vessel replacement def: "Is a medical procedure whereby blood vessels are either replaced with the patient’s own artery or vein, or alternatively with a vascular prosthesis or synthetic tube if the patient’s own blood vessel is not available." [] synonym: "graft, vascular" EXACT [] synonym: "replacement of blood vessel" EXACT [] synonym: "replacement, blood vessel" EXACT [] synonym: "replacement, vascular" EXACT [] synonym: "vascular graft" EXACT [] synonym: "vascular replacement" EXACT [] xref: PMID:20131930 xref: SNOMEDCT:698454003 is_a: EFO:0002571 ! medical procedure [Term] id: EFO:0010673 name: cardiac transplant def: "A heart transplant is an operation in which a donor heart is implanted into a recipient." [] synonym: "cardiac transplantation" EXACT [] synonym: "heart transplant" EXACT [] synonym: "heart transplantation" EXACT [] synonym: "transplant of heart" EXACT [] xref: MeSH:D016027 xref: NCIt:C15246 xref: PMID:25132977 xref: SNOMEDCT:233932001 is_a: EFO:0002571 ! medical procedure [Term] id: EFO:0010674 name: cardioverter defibrillator def: "A cardioverter defibrillator is an implanted device which regulates abnormal heart rhythms by generating and delivering electrical pulses." [] synonym: "automated implantable cardiac defibrillator" EXACT [] synonym: "automated implantable cardioverter-defibrillator" EXACT [] synonym: "cardiac defibrillator in situ" EXACT [] synonym: "cardioverter-defibrillator" EXACT [] synonym: "implantable cardioverter-defibrillator" EXACT [] synonym: "in situ cardiac defibrillator" EXACT [] synonym: "in situ cardioverter-defibrillator" EXACT [] synonym: "in-situ cardiac defibrillator" EXACT [] synonym: "in-situ cardioverter-defibrillator" EXACT [] xref: ICD9:V45.02 xref: MeSH:D017147 xref: NCIt:C93238 xref: PMID:25806132 xref: SNOMEDCT:425934009 is_a: EFO:0002571 ! medical procedure [Term] id: EFO:0010675 name: chronic venous hypertension def: "Chronic venous insufficiency is a result of venous hypertension which is secondary to venous valvular reflux in deep or superficial veins." [] synonym: "CVI" EXACT [] xref: ICD9:459.3 xref: PMID:17484814 xref: SNOMEDCT:234072000 is_a: MONDO:0004634 ! vein disorder [Term] id: EFO:0010676 name: cornea transplantation def: "A cornea transplantation is a procedure whereby the damaged or scarred host cornea is being replacing by a healthy donor transplant to restore vision." [] synonym: "cornea transplant" EXACT [] synonym: "keratoplasty" EXACT [] synonym: "transplant, cornea" EXACT [] synonym: "transplantation, cornea" EXACT [] xref: MeSH:D016039 xref: NCIt:C50514 xref: PMID:26101726 xref: SNOMEDCT:60656008 is_a: EFO:0002571 ! medical procedure [Term] id: EFO:0010677 name: cytological, histological or immunological finding def: "Any cytological, histological or immunological finding(s)." [] xref: ICD9:795 is_a: EFO:0003765 ! sign or symptom property_value: IAO:0000117 https://orcid.org/0000-0002-5495-4198 xsd:string [Term] id: EFO:0010678 name: eye discharge def: "Any discharge from the eye(s)." [] synonym: "discharge from eye" EXACT [] synonym: "eye drainage" EXACT [] xref: MedDRA:10015915 xref: SNOMEDCT:18628002 is_a: EFO:0003765 ! sign or symptom property_value: IAO:0000117 https://orcid.org/0000-0002-5495-4198 xsd:string [Term] id: EFO:0010679 name: eye swelling def: "Swelling of eye(s)." [] synonym: "swelling of eye" EXACT [] synonym: "swollen eye" EXACT [] xref: MedDRA:10015967 xref: NCIt:C35448 xref: SNOMEDCT:45177002 is_a: EFO:0003765 ! sign or symptom property_value: IAO:0000117 https://orcid.org/0000-0002-5495-4198 xsd:string [Term] id: EFO:0010680 name: hematoma def: "A hematoma is a collection of blood from a vascular structure into an extravascular space." [] synonym: "hematomas" EXACT [] xref: MedDRA:10019428 xref: MeSH:D006406 xref: NCIt:C50579 xref: PMID:30137835 xref: SNOMEDCT:385494008 is_a: MP:0001914 ! hemorrhage [Term] id: EFO:0010681 name: ileostomy def: "An ileostomy is an operation where a temporary or permanent surgical opening is created in the abdominal wall. The small bowel is brought through the opening in order to evacuate the stool via the small bowel instead of the anus." [] synonym: "ileostomy operation" EXACT [] synonym: "ileostomy procedure" EXACT [] xref: ICD9:V44.2 xref: MeSH:D007081 xref: NCIt:C15257 xref: PMID:30085545 xref: SNOMEDCT:301784005 is_a: EFO:0020979 ! digestive system surgery property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0010682 name: liver transplant def: "A liver transplant is an operation in which a donor liver is implanted into a recipient." [] synonym: "liver transplantation" EXACT [] synonym: "transplant of liver" EXACT [] synonym: "transplantation of liver" EXACT [] xref: MeSH:D016031 xref: NCIt:C15271 xref: OMIT:0016620 xref: PMID:20431740 xref: SNOMEDCT:3860006 is_a: EFO:0002571 ! medical procedure [Term] id: EFO:0010683 name: localized superficial swelling, mass, or lump def: "Any localized superficial swelling, mass or lump." [] xref: ICD9:782.2 is_a: EFO:0003765 ! sign or symptom property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 https://orcid.org/0000-0002-5495-4198 xsd:string [Term] id: EFO:0010684 name: malunion fracture def: "A malunion fracture is a fracture which has healed in such a position that it can cause malalignment or deformity." [] synonym: "fracture, malunion" EXACT [] synonym: "malunion of broken bone" EXACT [] synonym: "malunion of fracture" EXACT [] xref: ICD9:733.81 xref: MeSH:D017759 xref: PMID:26359061 xref: SNOMEDCT:425852005 is_a: EFO:0003931 ! bone fracture property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0010685 name: menopausal or post-menopausal disease def: "Any disease during or after menopause." [] synonym: "menopausal or post-menopausal disorder" EXACT [] xref: ICD9:627 is_a: EFO:0009549 ! female reproductive system disease property_value: IAO:0000117 https://orcid.org/0000-0002-5495-4198 xsd:string [Term] id: EFO:0010686 name: muscle strain def: "Stretching while the muscle is being activated can lead to strains. Muscle tearing results in localised damage near the muscle-tendon junction." [] synonym: "muscle, pulled" EXACT [] synonym: "pulled muscle" EXACT [] synonym: "strain of muscle tissue" EXACT [] synonym: "strain of muslce" EXACT [] synonym: "strained muscle" EXACT [] synonym: "strained muscle tissue" EXACT [] xref: MedDRA:10050031 xref: PMID:8947416 xref: SNOMEDCT:48532005 is_a: EFO:0000546 ! injury [Term] id: EFO:0010687 name: neonatal erythema toxicum def: "Erythema toxicum neonatorum is an eruption where yellowish papules or pustules are surrounded by red, irregular wheals. These lesions are generally only temporary and occur within the first weeks of life. " [] synonym: "erythema toxicum" EXACT [] synonym: "erythema toxicum neonatorum" EXACT [] xref: NCIt:C116783 xref: PMID:29261957 xref: SNOMEDCT:240302002 is_a: EFO:0000701 ! skin disease [Term] id: EFO:0010688 name: periapical tissue disease def: "Any disease of the periapical tissue." [] synonym: "disease of periapical tissue" EXACT [] synonym: "disease, periapical tissue" EXACT [] synonym: "disorder of periapical tissue" EXACT [] synonym: "disorder, periapical tissue" EXACT [] synonym: "periapical tissue condition" EXACT [] synonym: "periapical tissue disorder" EXACT [] xref: MeSH:D010483 xref: SNOMEDCT: 266417001 is_a: EFO:1001047 ! mouth disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 https://orcid.org/0000-0002-5495-4198 xsd:string [Term] id: EFO:0010689 name: perineum disease def: "Any disease of the perineum." [] synonym: "condition of perineum" EXACT [] synonym: "disease of perineum" EXACT [] synonym: "disease, perineal" EXACT [] synonym: "disease, perineum" EXACT [] synonym: "disorder of perineum" EXACT [] synonym: "disorder, perineal" EXACT [] synonym: "disorder, perineum" EXACT [] synonym: "perineal condition" EXACT [] synonym: "perineal disease" EXACT [] synonym: "perineal disorder" EXACT [] xref: SNOMEDCT:609621000 is_a: EFO:0000408 ! disease property_value: IAO:0000117 https://orcid.org/0000-0002-5495-4198 xsd:string [Term] id: EFO:0010690 name: renal dialysis def: "Dialysis is a procedure whereby excess fluid and waste products are removed from the blood to artificially replace the function of the kidneys. There are two types of dialysis: peritoneal dialysis which uses the peritoneal membrane as the filter, or hemodialysis which uses an artifical machine to filter the blood." [] synonym: "artificial dialysis of kidney" EXACT [] synonym: "kidney dialysis" EXACT [] xref: ICD10:Z99.2 xref: ICD9:V45.11 xref: MeSH:D006435 xref: PMID:29067226 xref: SNOMEDCT:265764009 is_a: EFO:0002571 ! medical procedure property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0010691 name: retroperitoneal infection def: "Any infection of the retroperitoneum." [] synonym: "infection of retroperitoneum" EXACT [] synonym: "infection, retroperitoneal" EXACT [] synonym: "infection, retroperitoneum" EXACT [] synonym: "infectious disease of retroperitoneum" EXACT [] synonym: "retroperitonium infection" EXACT [] xref: MedDRA:10050404 xref: SNOMEDCT:405582003 is_a: EFO:0005741 ! infectious disease property_value: IAO:0000117 https://orcid.org/0000-0002-5495-4198 xsd:string [Term] id: EFO:0010692 name: subcutaneous tissue infection def: "Any infection of the subcutaneous tissue." [] synonym: "infection of subcutaneous tissue" EXACT [] xref: SNOMEDCT:128939001 is_a: EFO:0005741 ! infectious disease property_value: IAO:0000117 https://orcid.org/0000-0002-5495-4198 xsd:string [Term] id: EFO:0010693 name: tooth-supporting structures disease def: "Any disease of the tooth-supporting structures." [] synonym: "disease of tooth-supporting structure" EXACT [] synonym: "disorder of tooth-supporting structures" EXACT [] synonym: "periodontium disease" EXACT [] synonym: "periodontium disorder" EXACT [] synonym: "tooth-supporting structure disease" EXACT [] synonym: "tooth-supporting structures disorder" EXACT [] is_a: EFO:1001047 ! mouth disease property_value: IAO:0000117 https://orcid.org/0000-0002-5495-4198 xsd:string [Term] id: EFO:0010694 name: total parenteral nutrition def: "Total parenteral nutrition is described as the artifical administration of nutrients intravenously when oral or tube feeding is inadequate." [] synonym: "hyperalimentation" EXACT [] synonym: "parenteral hyperalimentation" EXACT [] synonym: "TPN" EXACT [] xref: MedDRA:10044107 xref: MeSH:D010289 xref: NCIt:C29484 xref: PMID:815725 xref: SNOMEDCT:225372007 is_a: EFO:0003765 ! sign or symptom [Term] id: EFO:0010695 name: elevated lactate dehydrogenase def: "Serum lactate dehydrogenase (LDH) is a prognostic and diagnostic marker used to measure tissue breakdown. It is present in numerous disease outcomes, including infections, sepsis and cancerous conditions." [] synonym: "elevated lactic acid dehydrogenase" EXACT [] synonym: "elevated LDH" EXACT [] synonym: "increase of LDH" EXACT [] synonym: "Increased lactic acid dehydrogenase" EXACT [] synonym: "increased LDH" EXACT [] xref: NCIt:C39595 xref: PMID:25167691 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues [Term] id: EFO:0010696 name: soluble gp130 measurement def: "Quantification of soluble gp130 in a sample. gp130 acts as a natural inhibitor of soluble interleukin-6 receptor." [] synonym: "soluble glycoprotein 130" EXACT [] xref: PMID:31932740 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010698 name: retinal break def: "Retinal breaks are full-thickness discontinuities in the retina. They can be classified into tears, such as horseshoe tears and giant retinal tears, or holes, such as operculated holes and atrophic holes." [] xref: MedDRA:10066422 is_a: EFO:0003839 ! retinopathy property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010699 name: diffuse plaque measurement def: "Quantification of diffuse plaques in the brain. Diffuse plaques are diffuse collections of aggregated amyloid-β peptide without organized internal structure (e.g. not fibrillar) and that lack dystrophic neurites or glial reaction." [] xref: PMID:28322283 is_a: EFO:0004464 ! brain measurement is_a: EFO:0006514 ! Alzheimer's disease biomarker measurement relationship: IAO:0000136 EFO:0006801 ! is_about Alzheimer's disease neuropathologic change relationship: IAO:0000136 MONDO:0004975 ! is_about Alzheimer disease relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010700 name: reticulocyte measurement def: "A quantification of some aspect of reticulocyte function, quantity, or composition." [] is_a: EFO:0004503 ! hematological measurement relationship: IAO:0000136 CL:0000558 ! is_about reticulocyte property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Samuel Lambert" xsd:string [Term] id: EFO:0010701 name: mean reticulocyte volume def: "Mean volume of reticulocyte cells" [] is_a: EFO:0010700 ! reticulocyte measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Samuel Lambert" xsd:string [Term] id: EFO:0010702 name: opioid use disorder def: "A substance-related disorder that involves the recurring use of opioids despite negative consequences. Opioid use disorder is a diagnosis in DSM-5 that corresponds to two separate diagnoses in DSM-IV: opioid abuse and opioid dependence." [] xref: MedDRA:10079385 is_a: MONDO:0002494 ! substance-related disorder property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010703 name: trauma exposure measurement def: "Quantification of some aspect of trauma exposure." [] synonym: "trauma measurement" EXACT [] xref: PMID:31969693 is_a: EFO:0006848 ! mental or behavioural disorder biomarker property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010704 name: portal endothelial cell comment: Made as a placeholder for AE anatomagrams, term should be requested in CL. is_a: CL:0000115 ! endothelial cell relationship: part_of UBERON:0001639 ! hepatic portal vein property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0010705 name: periportal hepatic sinusoidal endothelial cell def: "A periportal endothelial cell that is part of the hepatic sinusoid." [] comment: Made as a placeholder for AE anatomagrams, term should be requested in CL. is_a: CL:1000398 ! endothelial cell of hepatic sinusoid relationship: part_of CL:1000398 ! endothelial cell of hepatic sinusoid property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0010706 name: central venous hepatic sinusoidal endothelial cell def: "A cental venous endothelial cell that is part of the hepatic sinusoid." [] comment: Made as a placeholder for AE anatomagrams, term should be requested in CL. is_a: CL:1000398 ! endothelial cell of hepatic sinusoid relationship: part_of CL:1000398 ! endothelial cell of hepatic sinusoid property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0010707 name: trans-3-hydroxycotinine measurement def: "Quantification of the amount of 3'-hydroxydotinine in a sample." [] xref: PMID:32157176 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 CHEBI:71182 ! is_about trans-3-hydroxycotinine property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010708 name: placental endothelial cell def: "An endothelial cell that is part of the placenta." [] comment: Made as a placeholder for AE anatomagrams, term should be requested in CL. is_a: CL:0000115 ! endothelial cell relationship: part_of UBERON:0001987 ! placenta property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0010709 name: placental smooth muscle cell def: "A smooth muscle cell that is part of the placenta." [] comment: Made as a placeholder for AE anatomagrams, term should be requested in CL. is_a: CL:0000192 ! smooth muscle cell relationship: part_of UBERON:0001987 ! placenta property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0010710 name: endometrial glandular epithelial cell def: "An epithelial cell that is part of an endometrial gland." [] comment: Made as a placeholder for AE anatomagrams, term should be requested in CL. is_a: CL:0000066 ! epithelial cell relationship: part_of UBERON:0002451 ! endometrial gland property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0010711 name: uterine endothelial cell def: "An endothelial cell that is part of the uterus." [] comment: Made as a placeholder for AE anatomagrams, term should be requested in CL. is_a: CL:0000115 ! endothelial cell relationship: part_of UBERON:0000995 ! uterus property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0010712 name: fused extravillous trophoblast comment: Made as a placeholder for AE anatomagrams, term should be requested in UBERON. is_a: UBERON:0000426 ! extravillous trophoblast property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0010713 name: 10x immune profiling def: "This method creates libraries that can capture gene expression, V(D)J sequences and feature barcodes from the same cells depending on the type of enrichment used." [] synonym: "10X Immune profiling" EXACT [] synonym: "10X V(D)J" EXACT [] synonym: "10X VDJ" EXACT [] synonym: "Chromium Single Cell V(D)J" EXACT [] is_a: EFO:0001457 ! RNA assay is_a: EFO:0008995 ! 10x technology is_a: EFO:0030015 ! single cell immune repertoire sequencing property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0010714 name: 10x TCR enrichment def: "This method enriches 10X 5' gene expression libraries with alpha and beta chain T cell receptor (TCR) sequences using PCR primers." [] synonym: "10X TCR enrichment" EXACT [] is_a: EFO:0010713 ! 10x immune profiling property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0010715 name: 10x Ig enrichment def: "This method enriches 10X 5' gene expression libraries with heavy and light chain Immunoglobulin (Ig) sequences from B cells using PCR primers." [] synonym: "10X BCR enrichment" EXACT [] synonym: "10X Ig enrichment" EXACT [] is_a: EFO:0010713 ! 10x immune profiling property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0010716 name: coinfection def: "The simultaneous infection of a host by multiple pathogen species." [] xref: https://orcid.org/0000-0003-0800-544X xref: MedDRA:10083750 xref: OMIT:0027719 xref: UMLS:C0275524 xref: Wikipedia:Coinfection is_a: EFO:0005741 ! infectious disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010717 name: afebrile def: "The state of being free from fever." [] synonym: "free from fever" EXACT [] synonym: "not feverish" EXACT [] synonym: "without fever" EXACT [] xref: https://orcid.org/0000-0003-0800-544X xref: SYMP:0000207 is_a: EFO:0000651 ! phenotype property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010718 name: response to amisulpride def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an amisulpride stimulus." [] is_a: GO:0097332 ! response to antipsychotic drug property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010719 name: continuous positive airway pressure def: "Continuous positive airway pressure (CPAP) is the gold standard treatment for obstructive sleep apnoea and delivers continuous mild air pressure to keep the airways open. The CPAP system is comprised of a CPAP machine and tubing, which attaches to the CPAP mask (either nasal CPAP mask, nasal cannula prongs or a full mask)." [] synonym: "CPAP" EXACT [] xref: ICD9:93.90 xref: PMID:27867577 xref: SNOMEDCT:47545007 is_a: EFO:0002571 ! medical procedure [Term] id: EFO:0010720 name: invasive mechanical ventilation def: "A mechanical ventilator provides tidal breaths under positive pressure to acutely ill patient via an endotracheal tube (ETT)." [] synonym: "invasive ventilation" EXACT [] xref: ICD10:Z99.1 xref: ICD9:96.7 xref: PMID:30512128 xref: SNOMEDCT:226471000000101 is_a: EFO:0002571 ! medical procedure [Term] id: EFO:0010721 name: lung transplantation def: "A lung transplantation is a surgical procedure for patients with progressive respiratory diseases, including chronic obstructive pulmonary disease, cystic fibrosis, pulmonary fibrosis, pulmonary hypertension or sarcoidosis.\nThe procedure involves either a single lung transplant, bilateral sequential lung transplant or heart-lung transplant." [] synonym: "lung transplant" EXACT [] synonym: "transplant of lung" EXACT [] synonym: "transplantation of lung" EXACT [] xref: ICD10:Z94.2 xref: ICD9:33.5 xref: PMID:25598729 xref: SNOMEDCT:88039007 is_a: EFO:0002571 ! medical procedure property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0010722 name: ophthalmic procedure def: "Ophthalmic procedure refers to any procedure of the eye(s)." [] synonym: "eye operation" EXACT [] synonym: "eye procedure" EXACT [] synonym: "eye surgery" EXACT [] synonym: "ophthalmic operation" EXACT [] synonym: "ophthalmic surgery" EXACT [] xref: ICD9:08-16 xref: SNOMEDCT:373353005 is_a: EFO:0002571 ! medical procedure property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 https://orcid.org/0000-0002-5495-4198 xsd:string [Term] id: EFO:0010723 name: ocular sarcoidosis def: "A leading cause of inflammatory eye disease is sarcoidosis. Ocular sarcoidosis can involve any part of the eye, and may cause uveitis, scleritis, eyelid abnormalities, conjunctival granuloma, optic neuropathy, lacrimal gland enlargement and orbital inflammation." [] xref: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4662043/ xref: MedDRA:10065700 is_a: EFO:0003818 ! lung disease is_a: EFO:0003966 ! eye disease relationship: EFO:0000784 UBERON:0002048 ! has_disease_location lung property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010724 name: lifestyle measurement def: "Quantification of some aspect of a subject's lifestyle." [] xref: PMID:32317632 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010725 name: aseptic loosening def: "A failure of the bond between an implant and bone in the absence of infection." [] is_a: EFO:0009518 ! complication property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010726 name: total joint arthroplasty def: "A surgical procedure in which an entire joint is replaced by a prosthetic implant." [] synonym: "joint replacement" EXACT [] synonym: "joint replacement surgery" EXACT [] synonym: "TJA" EXACT [] synonym: "total joint replacement surgery" EXACT [] xref: NCIt:C131579 is_a: EFO:0002571 ! medical procedure property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0010727 name: vacuum aspiration def: "Vacuum or suction aspiration uses aspiration to remove uterine contents through the cervix. It may be used as a method of induced abortion, a therapeutic procedure used after miscarriage, or a procedure to obtain a sample for endometrial biopsy." [] synonym: "aspiration" EXACT [] synonym: "suction aspiration" EXACT [] xref: Wikipedia:Vacuum_aspiration is_a: OBI:0600005 ! collecting specimen from organism [Term] id: EFO:0010728 name: curettage def: "Curettage, in medical procedures, is the use of a curette to remove tissue by scraping or scooping. Curettages are also a declining method of abortion. It has been replaced by vacuum aspiration over the last decade. Curettage has been used to treat teeth affected by periodontitis." [] xref: Wikipedia:Curettage is_a: OBI:0600005 ! collecting specimen from organism [Term] id: EFO:0010729 name: sun exposure measurement def: "Quantification of some aspect of exposure to incident light from the sun." [] synonym: "sunlight exposure measurement" EXACT [] xref: PMID:25590795 is_a: EFO:0600081 ! time spent outdoors measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010730 name: response to bezlotoxumab def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a bezlotoxumab stimulus. Bezlotoxumab is a human monoclonal antibody designed for the prevention of recurrence of Clostridium difficile infections." [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010731 name: response to low calorie diet def: "Physiological response of an organism to being fed a diet low in calories." [] synonym: "response to calorie restriction" EXACT [] is_a: EFO:0010757 ! response to diet is_a: GO:0051716 ! cellular response to stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010732 name: omega-6:omega-3 polyunsaturated fatty acid ratio def: "Quantification of the ratio of omega-6 polyunsaturated fatty acid to omega-3 polyunsaturated fatty acid." [] xref: PMID:31991592 is_a: EFO:0005110 ! fatty acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010733 name: polyunsaturated fatty acid measurement def: "The determination of the amount of polyunsaturated fatty acids present in a sample." [] xref: PMID:31991592 is_a: EFO:0005110 ! fatty acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010735 name: response to angiotensin receptor blocker def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an angiotensin receptor blocker." [] synonym: "response to ARB" EXACT [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010736 name: cortical surface area measurement def: "Quantification of the surface area of the cerebral cortex or parts thereof." [] synonym: "cortex surface area measurement" EXACT [] synonym: "cortical area measurement" EXACT [] xref: PMID:32193296 is_a: EFO:0004464 ! brain measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010737 name: autoinflammation with episodic fever and lymphadenopathy def: "An autosomal dominant immunologic disorder characterized by onset of recurrent episodes of unexplained fever beginning in early infancy. The episodes occur in a cyclic pattern with a frequency of every week or every few weeks and a duration of several days. Patients have accompanying lymphadenopathy, and some may have hepatosplenomegaly. Patient serum shows increased levels of inflammatory cytokines and chemokines, including IL6 and TNF, consistent with abnormal activation of the innate inflammatory system. Treatment with anti-IL6R antibodies may result in clinical improvement." [] xref: OMIM:618852 is_a: MONDO:0000426 ! autosomal dominant disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010738 name: retinal dystrophy with leukodystrophy def: "Retinal dystrophy and leukodystrophy (RDLKD) is a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism. Patients exhibit ataxia and spastic paraparesis as well as developmental delay, and may show facial dysmorphism." [] xref: OMIM:618863 is_a: EFO:1000017 ! autosomal recessive disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010739 name: epilepsy, early-onset, with or without developmental delay def: "Early-onset epilepsy with or without developmental delay (EPEDD) is an autosomal dominant neurologic disorder characterized by the onset of generalized tonic-clonic seizures in the first days, months, or years of life. The severity is highly variable: some patients have normal psychomotor development and normal brain imaging, whereas others may show developmental delay associated with abnormalities on brain imaging." [] xref: OMIM:618832 is_a: MONDO:0000426 ! autosomal dominant disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010740 name: Diets-Jongmans syndrome def: "Diets-Jongmans syndrome (DIJOS) is an autosomal dominant disorder characterized by mild to moderately impaired intellectual development with a recognizable facial gestalt." [] xref: OMIM:618846 is_a: MONDO:0000426 ! autosomal dominant disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010741 name: nasal brush def: "A method for sampling of epithelial cells and other effector cells from the nasal mucosa using a small nylon brush which is rotated over the epithelium and soaked and shaken in a small volume of a balanced salt solution." [] subset: http://www.ebi.ac.uk/efo/added_for_HCA synonym: "nasal mucosal brushing" EXACT [] xref: http://orcid.org/0000-0001-7505-5418 xref: PMID:2457054 is_a: OBI:0600005 ! collecting specimen from organism property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010742 name: protein binding measurement def: "Quantification of the binding of a protein to another entity, usually another protein, for example using ELISA (enzyme-linked immunosorbent assay)." [] synonym: "protein adhesion measurement" EXACT [] xref: PMID:32321835 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010743 name: sperm measurement def: "Quantification of some aspect of sperm e.g. sperm density, total sperm count, total motile sperm count" [] xref: PMID:32341457 is_a: EFO:0010759 ! male reproductive system measurement relationship: IAO:0000136 UBERON:0000079 ! is_about male reproductive system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010744 name: testis size def: "Quantification of the size of the testis" [] xref: PMID:32341457 is_a: EFO:0004302 ! anthropometric measurement is_a: EFO:0010759 ! male reproductive system measurement relationship: IAO:0000136 UBERON:0000473 ! is_about testis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010745 name: semen measurement def: "Quantification of some aspect of semen" [] synonym: "seminal fluid measurement" EXACT [] xref: PMID:32341457 is_a: EFO:0010759 ! male reproductive system measurement relationship: IAO:0000136 UBERON:0000079 ! is_about male reproductive system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010746 name: Inhibin B measurement def: "Quantification of amount of inhibin B in a sample." [] xref: PMID:32341457 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010747 name: response to levodopa def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of levodopa, a precurser of dopamine." [] synonym: "response to l-dopa" EXACT [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010748 name: response to zonisamide def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of zonisamide" [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0010749 name: motor function measurement def: "Quantification of some aspect of motor function." [] synonym: "motor control measurement" EXACT [] xref: PMID: 32355309 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010750 name: PHF-tau measurement def: "Quantification of amount of tau, in the form of paired helical filaments, in a sample" [] synonym: "paired helical filament tau measurement" EXACT [] xref: PMID:32450446 is_a: EFO:0004464 ! brain measurement is_a: EFO:0006514 ! Alzheimer's disease biomarker measurement relationship: IAO:0000136 UBERON:0000955 ! is_about brain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010751 name: nucleotide sequence offset def: "Distance between the start of a nucleotide sequence and the start of the actual read." [] is_a: EFO:0010186 ! single cell library information [Term] id: EFO:0010752 name: nucleotide sequence size def: "The number of nucleotides in a sequence." [] is_a: EFO:0010186 ! single cell library information [Term] id: EFO:0010753 name: barcode read def: "The sequencing read in which the barcode is found." [] is_a: EFO:0010186 ! single cell library information [Term] id: EFO:0010754 name: barcode offset def: "The 0-based offset of the start of the barcode in the read." [] is_a: EFO:0010751 ! nucleotide sequence offset [Term] id: EFO:0010755 name: barcode size def: "The length of the barcode in nucleotides." [] is_a: EFO:0010752 ! nucleotide sequence size [Term] id: EFO:0010756 name: HL-60/S4 def: "HL-60/S4 is a subline of the HL-60 cell line. The HL-60/S4 cell line was established in 1992 and is supersensitive to retinoic acid." [] xref: PMID:1737356 is_a: EFO:0002793 ! HL-60 relationship: has_characteristic EFO:1000068 ! Acute Leukemia relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0010757 name: response to diet def: "Physiological response (usually immune system response) of an organism to diet." [] is_a: GO:0050896 ! response to stimulus property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:0010758 name: anti-Kaposi's sarcoma-associated herpesvirus antibody measurement def: "Quantification of one or more antibodies to the Kaposi's sarcoma-associated herpesvirus, typically in serum" [] xref: PMID:32737300 is_a: EFO:0004556 ! antibody measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Maria Cerezo" xsd:string [Term] id: EFO:0010759 name: male reproductive system measurement def: "Quantification of some aspect of the male reproductive system" [] xref: PMID:32341457 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 UBERON:0000079 ! is_about male reproductive system property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010760 name: 4E-BP1 measurement def: "Quantification of the amount of 4E-BP1 protein in a sample" [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010761 name: adenosine deaminase measurement def: "Quantification of the amount of adenosine deaminase protein in a sample" [] synonym: "ADA" EXACT [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010762 name: advanced glycosylation end product-specific receptor ligand measurement def: "Quantification of the amount of advanced glycosylation end product-specific receptor ligand in a sample" [] synonym: "EN-RAGE" EXACT [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010763 name: axin-1 measurement def: "Quantification of the amount of axin-1 in a sample" [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010764 name: caspase-8 measurement def: "Quantification of the amount of caspase 8 protein in a sample" [] synonym: "CASP8" EXACT [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010766 name: CCL20 measurement def: "Quantification of the amount of CCL20 protein in a sample" [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010768 name: CCL25 measurement def: "Quantification of the amount of CCL25 protein in a sample" [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010769 name: CCL28 measurement def: "Quantification of the amount of CCL28 protein in a sample" [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010770 name: CCL3 measurement def: "Quantification of the amount of CCL3 protein in a sample" [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010772 name: CD244 measurement def: "Quantification of the amount of CD244 protein in a sample" [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010773 name: CD5 measurement def: "Quantification of the amount of CD5 protein in a sample" [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010774 name: CD6 measurement def: "Quantification of the amount of CD6 protein in a sample" [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010775 name: colony stimulating factor 1 measurement def: "Quantification of the amount of colony stimulating factor 1 in a sample" [] synonym: "CSF1" EXACT [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010776 name: CUB domain containing protein 1 measurement def: "Quantification of the amount of CUB domain containing protein 1 in a sample" [] synonym: "CDCP1" EXACT [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010777 name: CXCL1 measurement def: "Quantification of the amount of CXCL1 protein in a sample" [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010778 name: CXCL10 measurement def: "Quantification of the amount of CXCL10 protein in a sample" [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010779 name: CXCL11 measurement def: "Quantification of the amount of CXCL11 protein in a sample" [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010780 name: CXCL9 measurement def: "Quantification of the amount of CXCL9 protein in a sample" [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010781 name: delta/notch like EGF Repeat Containing protein measurement def: "Quantification of the amount of delta/notch like EGF repeat containing protein in a sample" [] synonym: "DNER" EXACT [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010782 name: fibroblast growth factor 19 measurement def: "Quantification of the amount of fibroblast growth factor 19 in a sample" [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010783 name: fibroblast growth factor 21 measurement def: "Quantification of the amount of fibroblast growth factor 21 in a sample" [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010784 name: fibroblast growth factor 5 measurement def: "Quantification of the amount of fibroblast growth factor 5 in a sample" [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010785 name: fms-related tyrosine kinase 3 ligand measurement def: "Quantification of the amount of fms-related tyrosine kinase 3 ligand in a sample." [] synonym: "Flt3L" EXACT [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010786 name: interleukin-10 receptor B measurement def: "Quantification of the amount of interleukin-10 receptor B in a sample" [] synonym: "IL10RB" EXACT [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010787 name: interleukin-12 subunit B measurement def: "Quantification of the amount of interleukin-12 subunit B in a sample" [] synonym: "IL12B" EXACT [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010788 name: leukemia inhibitory factor receptor measurement def: "Quantification of the amount of leukemia inhibitory factor receptor in a sample" [] synonym: "LIFR" EXACT [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010789 name: monocyte chemotactic protein-2 measurement def: "Quantification of the amount of monocyte chemotactic protein-2 in a sample." [] synonym: "MCP2" EXACT [] synonym: "monocyte chemotactic protein 2 measurement" EXACT [] synonym: "MPC-2" EXACT [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010790 name: monocyte chemotactic protein-4 measurement def: "Quantification of the amount of monocyte chemotactic protein-2 in a sample" [] synonym: "MCP4" EXACT [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010791 name: neurotrophin-3 measurement def: "Quantification of the amount of neurotrophin-3 in a sample" [] synonym: "NT3" EXACT [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010792 name: oncostatin-M measurement def: "Quantification of the amount of oncostatin-M in a sample" [] synonym: "OSM" EXACT [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010793 name: programmed death-ligand 1 measurement def: "Quantification of the amount of programmed death-ligand 1 in a sample" [] synonym: "PDL1" EXACT [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010794 name: signaling lymphocytic activation molecule 1 measurement def: "Quantification of the amount of signaling lymphocytic activation molecule 1 in a sample" [] synonym: "SLAMF1" EXACT [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010795 name: sirtuin-2 measurement def: "Quantification of the amount of sirtuin-2 in a sample" [] synonym: "SIRT2" EXACT [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010796 name: STAM binding protein measurement def: "Quantification of the amount of STAM binding protein in a sample" [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010797 name: sulfotrasferase 1A1 measurement def: "Quantification of the amount of sulfotrasferase 1A1 in a sample" [] synonym: "ST1A1" EXACT [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010798 name: transforming growth factor-alpha measurement def: "Quantification of the amount of transforming growth factor-alpha in a sample" [] synonym: "TGF-alpha" EXACT [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010799 name: transforming growth factor-beta measurement def: "Quantification of the amount of transforming growth factor-beta in a sample" [] synonym: "TGF-beta1" EXACT [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010800 name: tumor necrosis factor ligand superfamily member 10 measurement def: "Quantification of the amount of tumor necrosis factor ligand receptor superfamily member 10 in a sample" [] synonym: "TRAIL" EXACT [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010801 name: tumor necrosis factor ligand superfamily member 12 measurement def: "Quantification of the amount of tumor necrosis factor ligand receptor superfamily member 12 in a sample" [] synonym: "TWEAK" EXACT [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010802 name: tumor necrosis factor receptor superfamily member 9 measurement def: "Quantification of the amount of tumor necrosis factor receptor superfamily member 9 in a sample" [] synonym: "TNFRSF9" EXACT [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010803 name: urokinase-type plasminogen activator measurement def: "Quantification of the amount of urokinase-type plasminogen activator in a sample" [] synonym: "uPA" EXACT [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010804 name: vascular endothelial growth factor A measurement def: "Quantification of the amount of vascular endothelial growth factor A in a sample" [] synonym: "VEGFA" EXACT [] xref: PMID:32641083 is_a: EFO:0007937 ! blood protein measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010805 name: massively parallel signature sequencing def: "A DNA sequencing by ligation technique that involves a bead-based method that uses a complex approach of adapter ligation followed by adapter decoding, reading the sequence in increments of four nucleotides. This method is susceptible to sequence-specific bias or loss of specific sequences." [] synonym: "massively parallel sequencing" EXACT [] synonym: "massively-parallel sequencing" EXACT [] xref: ERO:0001211 xref: UMLS:C2936622 is_a: EFO:0002693 ! DNA-seq property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010806 name: enrichment of phosphorylated protein def: "The enrichment of phosphorylation in proteins using different methods such as the use of titanium dioxide (TiO2)." [] synonym: "phosphorylation" EXACT [] synonym: "phosphorylation enrichment" EXACT [] is_a: EFO:0009090 ! enrichment process property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010807 name: F121-9 def: "A female embryonic stem cell derived by crossing male Mus musculus castaneus and female Mus musculus 129." [] synonym: "F121-9-CASTx129" EXACT [] xref: https://data.4dnucleome.org/protocols/cb03c0c6-4ba6-4bbe-9210-c430ee4fdb2c/ is_a: EFO:0003074 ! ES cell line relationship: part_of UBERON:0000358 ! blastocyst relationship: RO:0000086 PATO:0000383 ! has_quality female property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010808 name: response to tafenoquine def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an tafenoquine stimulus" [] is_a: GO:0009410 ! response to xenobiotic stimulus relationship: IAO:0000136 CHEBI:135752 ! is_about tafenoquine property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010809 name: fat intake measurement def: "Quantification of the fat intake of an individual." [] synonym: "fat consumption measurement" EXACT [] xref: PMID:32393786 is_a: EFO:0008111 ! diet measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010810 name: protein intake measurement def: "Quantification of the protein intake of an individual." [] synonym: "protein consumption measurement" EXACT [] xref: PMID:32393786 is_a: EFO:0008111 ! diet measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010811 name: carbohydrate intake measurement def: "Quantification of the carbohydrate intake of an individual." [] synonym: "carbohydrate consumption measurement" EXACT [] xref: PMID:32393786 is_a: EFO:0008111 ! diet measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010812 name: T-cell immunoglobulin and mucin domain 1 measurement def: "Quantification of the amount of T-cell immunoglobulin and mucin domain 1 protein in a sample." [] synonym: "TIM-1" EXACT [] xref: PMID:32460577 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010813 name: fasting C-peptide measurement def: "A measurement of serum C-peptide levels at a predetermined point after a patient has fasted." [] xref: http://orcid.org/0000-0001-9043-693X is_a: EFO:0005187 ! C-peptide measurement property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010814 name: proinsulin measurement def: "Measurement of proinsulin, an insulin precursor that is processed into mature insulin and C-peptide." [] xref: http://orcid.org/0000-0001-9043-693X xref: Wikipedia:Proinsulin is_a: EFO:0004467 ! insulin measurement property_value: dc-creator "paola" xsd:string property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0010815 name: remnant cholesterol measurement def: "Measurement of remnant cholesterol (remnant lipoprotein), which is an atherogenic lipoprotein composed primarily of very low-density lipoprotein (VLDL) and intermediate-density lipoprotein (IDL)." [] xref: http://orcid.org/0000-0001-9043-693X xref: Wikipedia:Remnant_cholesterol is_a: EFO:0004732 ! lipoprotein measurement property_value: dc-creator "paola" xsd:string property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0010816 name: dietary fat liking measurement def: "Quantification of an individual's appreciation of lipids or fats in food or drink." [] synonym: "fat liking measurement" EXACT [] xref: PMID:32516399 is_a: EFO:0010155 ! taste liking measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010817 name: self-injurious ideation def: "A risk factor for self-injurious attempts and completions. Only a minority of ideators engage in overt self-harm." [] synonym: "self-injurious thoughts" EXACT [] xref: MedDRA:10051154 xref: PMID:32546850 is_a: HP:0100716 ! Self-injurious behavior property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010818 name: sensory perception of dietary content def: "A measurement of some aspect of an individual's perception or recognition of the contents of food or drink." [] synonym: "sensory perception of food content" EXACT [] xref: PMID:32516399 is_a: EFO:0008111 ! diet measurement property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010819 name: clonal hematopoiesis def: "Cellular proliferation of hematopoietic cells where a substantial proportion of the cells is derived from a single hematopoietic stem cell lineage." [] xref: MedDRA:10083368 xref: NCIt:C162188 xref: PMID:32518416 is_a: EFO:0005803 ! hematologic disease is_a: MONDO:0021074 ! precancerous condition property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010820 name: spontaneous coronary artery dissection def: "The spontaneous occurrence of a dissection of the coronary artery. The clinical recognition of this phenomenon has increased as coronary angiography is becoming more commonly used in the treatment of acute coronary syndrome. The etiology of the condition has not been fully elucidated, but the mean age of presentation is 30-45 years, more than 70% are women, and 30% of cases occur in the peripartum period." [] synonym: "SCAD" EXACT [] xref: NCIt:C165532 xref: PMID:32887874 is_a: EFO:0001645 ! coronary artery disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010821 name: liver fat measurement def: "A quantification of the fat content of the liver such as liver fat fraction, typically assessed by MRI." [] xref: PMID:32766472 is_a: EFO:0006845 ! liver disease biomarker property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0010822 name: stenosing tenosynovitis def: "A disorder characterised by catching or locking of the involved finger." [] synonym: "trigger finger" EXACT [] xref: MedDRA:10044654 xref: Wikipedia:Trigger_finger is_a: EFO:1001435 ! tenosynovitis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010824 name: response to rhododendrol def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a rhododendrol stimulus. Rhododendrol is an organic compound that is present in many plants (e.g. rhododendron) and has been used as a tyrosinase inhibitor (e.g. in skin-lightening cosmetics)." [] synonym: "response to 4-(4-Hydroxyphenyl)-2-butanol" EXACT [] xref: PMID:32558222 is_a: GO:0009410 ! response to xenobiotic stimulus relationship: IAO:0000136 CHEBI:81278 ! is_about 4-(4-Hydroxyphenyl)-2-butanol property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010825 name: response to fluoropyrimidines def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a fluoropyrimidine stimulus. 5-fluorouracil and Capecitabine are pyrimidine analogues used in treatment of cancer." [] synonym: "response to 5-FU" EXACT [] synonym: "response to capecitabine" EXACT [] xref: PMID:29715290 is_a: GO:0097329 ! response to antimetabolite property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010826 name: cystine urolithiasis def: "Urolithiasis in which the composition of the stones is predominantly cystine." [] xref: NCIt:C123244 is_a: MONDO:0024647 ! urolithiasis [Term] id: EFO:0010828 name: myofibrillar myopathy 9 with early respiratory failure def: "Myofibrillar myopathy-9 with early respiratory failure (MFM9) is an autosomal dominant muscle disorder characterized by adult onset of slowly progressive muscle weakness with diaphragmatic involvement causing respiratory insufficiency. Patients present between 20 and 70 years of age with distal or proximal muscle weakness, mainly affecting the lower limbs with foot drop or difficulty walking. The age at onset is highly variable, even within families. Nearly all patients eventually develop significant proximal and distal weakness, as well as respiratory insufficiency requiring nocturnal ventilation. Additional, more variable features may include axial weakness, neck muscle weakness, and rarely, cardiac involvement. Muscle biopsy shows myopathic or dystrophic changes with fiber splitting, eosinophilic cytoplasmic inclusions consistent with myofibrillar myopathy, rimmed vacuoles, and increased connective or fatty tissue (summary by Pfeffer et al., 2014)." [] xref: OMIM:603689 is_a: Orphanet:206634 ! Genetic skeletal muscle disease [Term] id: EFO:0010830 name: lobular capilliary hemangioma def: "A friable, benign vascular neoplasm with lobular capillary architecture that presents as a raised red skin growth." [] synonym: "granulation tissue-type hemangioma" EXACT [] synonym: "granuloma pyogenicum" EXACT [] synonym: "granuloma telangiecticum" EXACT [] synonym: "granulomata pyogenicum" EXACT [] synonym: "hemangiomatous granulation tissue" EXACT [] synonym: "lobular capillary hemangioma" EXACT [] synonym: "lobular hemangioma" EXACT [] synonym: "pyogenic granuloma" EXACT [] xref: NCIt:C3480 xref: UMLS:C0263218 is_a: MONDO:0002407 ! capillary hemangioma property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0010831 name: testicular mixed germ cell tumor def: "A malignant germ cell tumor that arises from the testis and is characterized by the presence of more than one histologic component. Representative examples include mixed choriocarcinoma and embryonal carcinoma, mixed embryonal carcinoma and seminoma, and mixed yolk sac tumor and teratoma." [] synonym: "mixed germ cell tumor of testis" EXACT [] synonym: "mixed testicular germ cell tumour" EXACT [] xref: DOID:4743 xref: NCIt:C6347 is_a: MONDO:0015864 ! mixed germ cell tumor [Term] id: EFO:0010832 name: primary central chondrosarcoma def: "A chondrosarcoma arising from the central portion of bone without a benign precursor." [] synonym: "conventional chondrosarcoma of bone" EXACT [] synonym: "primary chondrosarcoma" EXACT [] synonym: "primary chondrosarcoma of bone" EXACT [] xref: NCIt:C7155 xref: UMLS:C1335473 is_a: MONDO:0000515 ! bone chondrosarcoma [Term] id: EFO:0010833 name: uterine corpus undifferentiated sarcoma def: "A rare, high grade sarcoma that arises from the endometrial stroma or myometrium without a specific type of differentiation. It was previously also known as high grade endometrial stromal sarcoma. In 2014, high grade endometrial stromal sarcoma was reclassified and is currently considered a distinct and rare neoplasm. Undifferentiated uterine sarcoma has a worse prognosis." [] xref: NCIt:C8972 is_a: EFO:0002914 ! uterine sarcoma [Term] id: EFO:0010834 name: tumor necrosis factor measurement def: "The determination of the amount of tumor necrosis factor present in a sample." [] synonym: "TNF measurement" EXACT [] is_a: EFO:0007937 ! blood protein measurement property_value: definition:citation PMID:32805626 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Jacqueline MacArthur" xsd:string [Term] id: EFO:0010835 name: GM19023 def: "Lymphoblastoid cell line from a Luhya female from Webuye, Kenya" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM19023&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0010836 name: GM19025 def: "Lymphoblastoid cell line from a Luhya male from Webuye, Kenya" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM19025&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0010837 name: GM19043 def: "Lymphoblastoid cell line from a Luhya male from Webuye, Kenya" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM19043&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0010838 name: GM21515 def: "Lymphoblastoid cell line from a Maasai male from Kinyawa, Kenya" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM21515&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0010839 name: GM21737 def: "Lymphoblastoid cell line from a Maasai male from Kinyawa, Kenya" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM21737&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0010840 name: GM21786 def: "Lymphoblastoid cell line from a Maasai female from Kinyawa, Kenya" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM21786&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0010841 name: HG02571 def: "Lymphoblastoid cell line from a Gambian female from the Western Division in the Gambia" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02571&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0010842 name: HG02588 def: "Lymphoblastoid cell line from a Gambian male from the Western Division in the Gambia" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02588&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0010843 name: HG02610 def: "Lymphoblastoid cell line from a Gambian male from the Western Division in the Gambia" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02610&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0010844 name: HG02623 def: "Lymphoblastoid cell line from a Gambian male from the Western Division in the Gambia" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03039&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0010845 name: HG02642 def: "Lymphoblastoid cell line from a Gambian male from the Western Division in the Gambia" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02642&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0010846 name: HG02678 def: "Lymphoblastoid cell line from a Gambian male from the Western Division in the Gambia" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02678&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0010847 name: HG02759 def: "Lymphoblastoid cell line from a Gambian male from the Western Division in the Gambia" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02759&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0010848 name: HG02763 def: "Lymphoblastoid cell line from a Gambian female from the Western Division in the Gambia" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02763&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0010849 name: HG02798 def: "Lymphoblastoid cell line from a Gambian male from the Western Division in the Gambia" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02798&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0010850 name: HG02840 def: "Lymphoblastoid cell line from a Gambian female from the Western Division in the Gambia" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02840&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0010851 name: HG02852 def: "Lymphoblastoid cell line from a Gambian female from the Western Division in the Gambia" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02852&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0010852 name: HG02870 def: "Lymphoblastoid cell line from a Gambian female from the Western Division in the Gambia" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02870&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0010853 name: HG02884 def: "Lymphoblastoid cell line from a Gambian male from the Western Division in the Gambia" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02884&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0010854 name: HG02885 def: "Lymphoblastoid cell line from a Gambian female from the Western Division in the Gambia" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02885&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0010855 name: HG02938 def: "Lymphoblastoid cell line from an Esan male from Nigeria" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02938&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0010856 name: HG02943 def: "Lymphoblastoid cell line from an Esan female from Nigeria" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02943&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0010857 name: HG02970 def: "Lymphoblastoid cell line from an Esan female from Nigeria" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02970&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0010858 name: HG02973 def: "Lymphoblastoid cell line from an Esan male from Nigeria" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02973&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0010859 name: HG02981 def: "Lymphoblastoid cell line from an Esan male from Nigeria" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02981&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0010860 name: HG03025 def: "Lymphoblastoid cell line from a Gambian female from the Western Division in the Gambia" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03025&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0010861 name: HG03039 def: "Lymphoblastoid cell line from a Gambian male from the Western Division in the Gambia" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03039&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0010862 name: HG03045 def: "Lymphoblastoid cell line from a Gambian male from the Western Division in the Gambia" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03045&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0010863 name: HG03060 def: "Lymphoblastoid cell line from a Mende male from Sierra Leone" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03060&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0010864 name: HG03064 def: "Lymphoblastoid cell line from a Mende female from Sierra Leone" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03064&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0010865 name: HG03066 def: "Lymphoblastoid cell line from a Mende male from Sierra Leone" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03066&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0010866 name: HG03095 def: "Lymphoblastoid cell line from a Mende female from Sierra Leone" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03095&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0010867 name: HG03097 def: "Lymphoblastoid cell line from a Mende female from Sierra Leone" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03097&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0010868 name: HG03103 def: "Lymphoblastoid cell line from an Esan male from Nigeria" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03103&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0010869 name: HG03108 def: "Lymphoblastoid cell line from an Esan female from Nigeria" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03108&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0010870 name: HG03135 def: "Lymphoblastoid cell line from an Esan female from Nigeria" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03135&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0010871 name: HG03139 def: "Lymphoblastoid cell line from an Esan male from Nigeria" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03139&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0010872 name: HG03159 def: "Lymphoblastoid cell line from an Esan female from Nigeria" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03159&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0010873 name: HG03175 def: "Lymphoblastoid cell line from an Esan male from Nigeria" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03175&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0010874 name: HG03196 def: "Lymphoblastoid cell line from an Esan male from Nigeria" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03196&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0010875 name: HG03280 def: "Lymphoblastoid cell line from an Esan male from Nigeria" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03280&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0010876 name: HG03342 def: "Lymphoblastoid cell line from an Esan female from Nigeria" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03342&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0010877 name: HG03354 def: "Lymphoblastoid cell line from an Esan female from Nigeria" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03354&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0010878 name: HG03378 def: "Lymphoblastoid cell line from a Mende female from Sierra Leone" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03378&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0010879 name: HG03432 def: "Lymphoblastoid cell line from a Mende male from Sierra Leone" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03432&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0010880 name: HG03439 def: "Lymphoblastoid cell line from a Mende male from Sierra Leone" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03439&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0010881 name: HG03442 def: "Lymphoblastoid cell line from a Mende male from Sierra Leone" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03442&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0010882 name: HG03457 def: "Lymphoblastoid cell line from a Mende male from Sierra Leone" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03457&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0010883 name: HG03460 def: "Lymphoblastoid cell line from a Mende male from Sierra Leone" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03460&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0010884 name: HG03469 def: "Lymphoblastoid cell line from a Mende male from Sierra Leone" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03469&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0010885 name: HG03520 def: "Lymphoblastoid cell line from an Esan female from Nigeria" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03520&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0010886 name: HG03521 def: "Lymphoblastoid cell line from an Esan male from Nigeria" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03521&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0010887 name: HG03558 def: "Lymphoblastoid cell line from a Mende female from Sierra Leone" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03558&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0010888 name: HG03565 def: "Lymphoblastoid cell line from a Mende male from Sierra Leone" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03565&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0010889 name: HG03571 def: "Lymphoblastoid cell line from a Mende male from Sierra Leone" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03571&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000384 ! has_quality male [Term] id: EFO:0010890 name: HG03575 def: "Lymphoblastoid cell line from a Mende female from Sierra Leone" [] xref: https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03575&Product=CC is_a: EFO:0001941 ! blood component is_a: EFO:0005292 ! lymphoblastoid cell line relationship: part_of NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000178 ! blood relationship: RO:0000086 PATO:0000383 ! has_quality female [Term] id: EFO:0010891 name: scATAC-seq def: "A method for detecting the accessible chromatin in individual cells by transposase-accessible chromatin sequencing assay." [] synonym: "ATAC-seq (single cell)" EXACT [] synonym: "single cell assay for transposase-accessible chromatin using sequencing" EXACT [] synonym: "single cell ATAC-seq" EXACT [] synonym: "single cell ATAC-sequencing" EXACT [] synonym: "single-cell ATAC-seq" EXACT [] xref: http://orcid.org/0000-0002-8674-0039 xref: https://en.wikipedia.org/w/index.php?title=ATAC-seq&oldid=984332600#Single-cell_ATAC-seq is_a: EFO:0007045 ! ATAC-seq is_a: EFO:0010183 ! single cell library construction property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010892 name: hydrolysis collection protocol def: "A protocol to remove zona pellucida of mammalian oocytes by hydrolysis with 0.012 M hydrochloric acid to obtain naked oocytes without contamination of granulosa cells." [] subset: http://www.ebi.ac.uk/efo/added_for_HCA xref: PMID:30472193 is_a: OBI:0000272 ! protocol property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010894 name: obsolete_stromal cell of lamina propria of large intestine def: "A stromal cell found in the lamina propria of the large intestine." [] xref: http://orcid.org/0000-0003-4183-8865 property_value: dc-creator "paola" xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.55.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate.\n\nPlease use: http://purl.obolibrary.org/obo/CL_0009021" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/CL_0009021 [Term] id: EFO:0010895 name: obsolete_stromal cell of lamina propria of small intestine def: "A stromal cell found in the lamina propria of the small intestine." [] xref: http://orcid.org/0000-0003-4183-8865 property_value: dc-creator "paola" xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.55.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate.\n\nPlease use: http://purl.obolibrary.org/obo/CL_0009022" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/CL_0009022 [Term] id: EFO:0010896 name: small intestine Peyer's patch T cell def: "A T cell which resides in the Peyer's patch of the small intestine." [] synonym: "T cell of Peyer's patch of small intestine" EXACT [] synonym: "T cell of small intestine Peyer's patch" EXACT [] xref: http://orcid.org/0000-0003-4183-8865 is_a: CL:0002419 ! mature T cell intersection_of: CL:0002419 ! mature T cell intersection_of: part_of UBERON:0003454 ! small intestine Peyer's patch property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010897 name: obsolete_mesothelial cell of small intestine def: "A mesothelial cell that is part of the small intestine." [] xref: http://orcid.org/0000-0003-4183-8865 property_value: dc-creator "paola" xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.55.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate.\nUse: http://purl.obolibrary.org/obo/CL_0009024" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/CL_0009024 [Term] id: EFO:0010898 name: mesothelial cell of large intestine def: "A mesothelial cell that is part of the large intestine." [] xref: http://orcid.org/0000-0003-4183-8865 is_a: CL:0000077 ! mesothelial cell is_a: CL:0002253 ! epithelial cell of large intestine intersection_of: CL:0000077 ! mesothelial cell intersection_of: part_of UBERON:0000059 ! large intestine property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010899 name: anti-merkel cell virus antibody measurement def: "Quantification of one or more antibodies to the Merkel-cell virus, typically in serum." [] synonym: "anti-MCV measurement" EXACT [] xref: PMID:33204752 is_a: EFO:0004556 ! antibody measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010900 name: anti-polyomavirus 2 antibody measurement def: "Quantification of one or more antibodies to the polyomavirus 2, typically in serum." [] synonym: "JCV" EXACT [] xref: PMID:33204752 is_a: EFO:0004556 ! antibody measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010901 name: obsolete_anti-herpes simplex virus 6 antibody measurement def: "Quantification of one or more antibodies to the herpes simplex virus, typically in serum." [] xref: PMID:33204752 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.30.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "A submitter for PMID:33204752 contacted the GWAS Catalog to request a change to the trait annotation of their paper in the GWAS Catalog. Studies were incorrectly annotated with herpes simplex virus 6 whereas they should be human herpes virus 6. Use 'anti-human herpes virus 6 antibody measurement' http://www.ebi.ac.uk/efo/EFO_0011037 instead." xsd:string property_value: IAO:0000117 "Annalisa Buniello" xsd:string property_value: IAO:0000117 "Laura Harris" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0011037 [Term] id: EFO:0010902 name: obsolete_anti-herpes simplex virus 7 antibody measurement def: "Quantification of one or more antibodies to the herpes simplex virus, typically in serum." [] xref: PMID:33204752 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.30.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "A submitter for PMID:33204752 contacted the GWAS Catalog to request a change to the trait annotation of their paper in the GWAS Catalog. Studies were incorrectly annotated with herpes simplex virus 6 whereas they should be human herpes virus 7. Use 'anti-human herpes virus 7 antibody measurement' http://www.ebi.ac.uk/efo/EFO_0011038 instead." xsd:string property_value: IAO:0000117 "Annalisa Buniello" xsd:string property_value: IAO:0000117 "Laura Harris" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0011038 [Term] id: EFO:0010903 name: anti-chlamydia trachomatis antibody measurement def: "Quantification of one or more antibodies to the chlamydia trachomatis virus, typically in serum." [] xref: PMID:33204752 is_a: EFO:0004556 ! antibody measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010904 name: anti-BK polyomavirus antibody measurement def: "Quantification of one or more antibodies to the BK polyomavirus, typically in serum." [] xref: PMID:33204752 is_a: EFO:0004556 ! antibody measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010905 name: BK polyomavirus seropositivity def: "The result of a measurement of circulating BK polyomavirus-specific antibodies." [] synonym: "BKV seropositivity" EXACT [] xref: PMID:33204752 is_a: EFO:0007034 ! seropositivity measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010906 name: merkel cell virus seropositivity def: "The result of a measurement of circulating merkel cell virus-specific antibodies." [] synonym: "MKV seropositivity" EXACT [] xref: PMID:33204752 is_a: EFO:0007034 ! seropositivity measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010907 name: polyomavirus 2 seropositivity def: "The result of a measurement of circulating polyomavirus 2-specific antibodies." [] synonym: "JCV seropositivity" EXACT [] xref: PMID:33204752 is_a: EFO:0007034 ! seropositivity measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010908 name: Epstein-Barr virus seropositivity def: "The result of a measurement of circulating Epstein-Barr virus-specific antibodies." [] xref: PMID:33204752 is_a: EFO:0007034 ! seropositivity measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010909 name: adrenomedullin measurement def: "Quantification of the amount of adrenomedullin in a sample" [] xref: PMID:33067605 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010910 name: C-C motif chemokine 20 measurement def: "Quantification of the amount of C-C motif chemokine 20 in a sample" [] xref: PMID:33067605 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010911 name: C-X-C motif chemokine 16 measurement def: "Quantification of the amount of C-X-C motif chemokine 16 in a sample" [] xref: PMID:33067605 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010912 name: endothelial cell-specific molecule 1 measurement def: "Quantification of the amount of endothelial cell-specific molecule 1 in a sample" [] xref: PMID:33067605 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010913 name: eosinophil cationic protein measurement def: "Quantification of the amount of eosinophil cationic protein in a sample" [] xref: PMID:33067605 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010914 name: fatty acid-binding protein, adipocyte measurement def: "Quantification of the amount of fatty acid-binding protein, adipocyte in a sample" [] xref: PMID:33067605 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010915 name: heat shock 27 kDa protein measurement def: "Quantification of the amount of heat shock 27 kDa protein in a sample" [] xref: PMID:33067605 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010916 name: interleukin-27 measurement def: "Quantification of the amount of interleukin-27 in a sample" [] xref: PMID:33067605 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010917 name: kidney injury molecule 1 measurement def: "Quantification of the amount of kidney injury molecule 1 in a sample" [] xref: PMID:33067605 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010918 name: lectin-like oxidized LDL receptor 1 measurement def: "Quantification of the amount of lectin-like oxidized LDL receptor 1 in a sample" [] xref: PMID:33067605 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010919 name: melusin measurement def: "Quantification of the amount of melusin in a sample" [] xref: PMID:33067605 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010920 name: membrane-bound aminopeptidase P measurement def: "Quantification of the amount of membrane-bound aminopeptidase P in a sample" [] xref: PMID:33067605 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010921 name: N-terminal prohormone brain natriuretic peptide measurement def: "Quantification of the amount of N-terminal prohormone brain natriuretic peptide in a sample" [] xref: PMID:33067605 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010922 name: P-selectin glycoprotein ligand 1 measurement def: "Quantification of the amount of P-selectin glycoprotein ligand 1 in a sample" [] xref: PMID:33067605 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010923 name: pentraxin-related protein PTX3 measurement def: "Quantification of the amount of pentraxin-related protein PTX3 in a sample" [] xref: PMID:33067605 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010924 name: proheparin-binding EGF-like growth factor measurement def: "Quantification of the amount of proheparin-binding EGF-like growth factor in a sample" [] xref: PMID:33067605 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010925 name: protein S100-A12 measurement def: "Quantification of the amount of protein S100-A12 in a sample" [] xref: PMID:33067605 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010926 name: proteinase-activated receptor 1 measurement def: "Quantification of the amount of proteinase-activated receptor 1 in a sample" [] xref: PMID:33067605 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010927 name: proto-oncogene tyrosine-protein kinase Src measurement def: "Quantification of the amount of proto-oncogene tyrosine-protein kinase Src in a sample" [] xref: PMID:33067605 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010928 name: SIR2-like protein 2 measurement def: "Quantification of the amount of SIR2-like protein 2 in a sample" [] xref: PMID:33067605 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010929 name: TNF-related activation-induced cytokine measurement def: "Quantification of the amount of TNF-related activation-induced cytokine in a sample" [] xref: PMID:33067605 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010930 name: TNF-related apoptosis-inducing ligand receptor 2 measurement def: "Quantification of the amount of TNF-related apoptosis-inducing ligand receptor 2 in a sample" [] xref: PMID:33067605 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010931 name: tumor necrosis factor receptor 1 measurement def: "Quantification of the amount of tumor necrosis factor receptor 1 in a sample" [] xref: PMID:33067605 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010932 name: urokinase plasminogen activator surface receptor measurement def: "Quantification of the amount of urokinase plasminogen activator surface receptor in a sample" [] xref: PMID:33067605 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010933 name: response to dexamethasone def: "Response to the synthetic glucocorticoid with anti-inflammatory and immunomodulating properties, dexamethasone (9α-fluoro-16α-methylprednisolone)." [] synonym: "response to 9α-fluoro-16α-methylprednisolone" EXACT [] is_a: GO:0051384 ! response to glucocorticoid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010934 name: aspartate aminotransferase to alanine aminotransferase ratio def: "The ratio between the levels of aspartate aminotransferase (AST) and alanine aminotransferase (ALT)." [] synonym: "AST:ALT ratio" EXACT [] xref: PMID:33004991 is_a: EFO:0006845 ! liver disease biomarker property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010935 name: cytokine secretion assay def: "A protein assay measuring the types and amounts of cytokines that are released as the consequence of a signaling event. Cytokines can be quantitated using e.g. ELISA-based kits or PCR arrays." [] subset: http://www.ebi.ac.uk/efo/added_for_HCA synonym: "pan-cytokeratin staining" EXACT [] xref: BAO:0003003 xref: https://orcid.org/0000-0002-7431-4139 is_a: EFO:0001458 ! protein assay property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010936 name: SDS-PAGE def: "A protein assay that allows protein separation by mass in a polyacrylamide-based discontinuous gel." [] subset: http://www.ebi.ac.uk/efo/added_for_HCA synonym: "SDS polyacrylamide gel electrophoresis" EXACT [] synonym: "SDS polyacrylamide gel electrophoresis of proteins" EXACT [] synonym: "SDS-PAGE electrophoresis" EXACT [] synonym: "sodium dodecyl sulphate–polyacrylamide gel electrophoresis" EXACT [] xref: CHMO:0001027 xref: https://orcid.org/0000-0001-7505-5418 xref: PMID:20512673 xref: PRIDE:0000568 xref: Wikipedia:SDS-PAGE is_a: EFO:0001458 ! protein assay property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010937 name: comparative genomic hybridization (CGH) def: "Comparative genomic hybridization is an in-situ hybridization method for the analysis of regional genomic copy number imbalances (CNA/CNV), based on the hybridization of test (e.g. tumor) and reference DNA to chromosomal metaphase preparations from healthy donors." [] synonym: "chromosomal comparative genomic hybridization" EXACT [] synonym: "comparative genomic hybridization" EXACT [] xref: https://orcid.org/0000-0002-9903-4248 is_a: EFO:0001456 ! DNA assay is_a: OBI:0001686 ! in-situ hybridization assay property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010938 name: large-insert clone DNA microarray def: "Large-insert clone DNA microarrays consist of usually several thousands of spots of DNA from bacterial artificial chromosome (BAC) and P1 artificial chromosome (PAC) clones. The main application of those arrays is for array comparative genomic hybridization (aCGH) experiments." [] synonym: "spotted DNA microarray" EXACT [] xref: https://orcid.org/0000-0002-9903-4248 is_a: EFO:0002701 ! DNA array property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010939 name: oligonucleotide DNA microarray def: "Oligonucleotide DNA microarrays consist of usually thousands to many hundreds of thousands spots of DNA oligonucleotides (25- to 60 bases) which have been created by either in situ synthesis or deposition of presynthesized oligonucleotides on a carrier substrate. Applications for those arrays are in the detection of copy number variations or small structural changes as well as in genotyping (if oligonucleotides have been designed for SNP detection)." [] xref: https://orcid.org/0000-0002-9903-4248 is_a: EFO:0002701 ! DNA array property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010940 name: microglial activation measurement def: "The quantification of the amount of activated migroglia in the brain." [] synonym: "proportion of activated microglia" EXACT [] xref: PMID:30679421 is_a: EFO:0004464 ! brain measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010941 name: metastasis sample def: "A neoplastic sample derived from a cancer metastasis (not from a primary tumor)." [] comment: This term is meant to describe a material sample, and should not be used for disease or disease stage/grade. synonym: "metastasis" RELATED [] xref: http://orcid.org/0000-0002-9903-4248 is_a: EFO:0009656 ! neoplastic sample property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010942 name: primary tumor sample def: "A neoplastic sample derived from a primary tumor (not from a cancer metastasis)." [] comment: This term is meant to describe a material sample, and should not be used for disease or disease stage/grade. The tumor that the sample derives from may be metastasized, i.e. have distant metastases, however those should not be considered part of the material attribute itself. synonym: "primary neoplasia" RELATED [] synonym: "primary neoplasia sample" EXACT [] synonym: "primary tumor" RELATED [] synonym: "primary tumour" RELATED [] synonym: "primary tumour sample" EXACT [] xref: http://orcid.org/0000-0002-9903-4248 is_a: EFO:0009656 ! neoplastic sample property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010943 name: recurrent tumor sample def: "A neoplastic sample derived from a recurrent tumor (not from a primary occurrence of a neoplasm)." [] comment: This term is meant to describe a material sample, and should not be used for disease or disease stage/grade. synonym: "recurrent neoplasia" RELATED [] synonym: "recurrent tumor" RELATED [] synonym: "recurrent tumour" RELATED [] synonym: "recurrent tumour sample" EXACT [] synonym: "relapsed cancer" RELATED [] xref: http://orcid.org/0000-0002-9903-4248 is_a: EFO:0009656 ! neoplastic sample property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010945 name: CAST/EiJxC57BL/6J def: "A Mus musculus individual that is a substrain of CAST/EiJ (mother) and C57BL/6J (father)." [] subset: http://www.ebi.ac.uk/efo/added_for_HCA xref: https://orcid.org/0000-0002-3163-0115 xref: PMID:27668657 is_a: NCBITaxon:10090 ! Mus musculus property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010946 name: C57BL/6JxCAST/EiJ def: "A Mus musculus individual that is a substrain of C57BL/6J (mother) and CAST/EiJ (father)." [] subset: http://www.ebi.ac.uk/efo/added_for_HCA xref: https://orcid.org/0000-0002-3163-0115 xref: PMID:27668657 is_a: NCBITaxon:10090 ! Mus musculus property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010947 name: epidermal growth factor measurement def: "The determination of the amount of epidermal growth factor present in a sample." [] synonym: "EGF" EXACT [] xref: PMID:33067605 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010948 name: lower face morphology measurement def: "Quantification of some aspect of lower face morphology such as chin protrusion." [] xref: PMID:33288918 is_a: EFO:0007841 ! facial morphology measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010949 name: upper face morphology measurement def: "Quantification of some aspect of upper face morphology such as forehead height." [] xref: PMID:33288918 is_a: EFO:0007841 ! facial morphology measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010950 name: response to cranial radiation therapy def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of cranial radiation therapy." [] xref: PMID:33048379 is_a: GO:0009314 ! response to radiation property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010952 name: urinary potassium measurement def: "A quantitative measurement of the total amount of potassium present in a sample of urine." [] synonym: "urine potassium measurement" EXACT [] xref: NCIt:C61047 xref: ORCID:0000-0001-8222-008X xref: PMID:33462484 is_a: EFO:0005116 ! urinary metabolite measurement is_a: EFO:0009283 ! potassium measurement relationship: IAO:0000136 CHEBI:26216 ! is_about potassium atom property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sam Lambert" xsd:string [Term] id: EFO:0010953 name: autosomal recessive dilated cardiomyopathy def: "Dilated cardiomyopathy, characterized by dilation and contractile dysfunction of the left and right ventricles, with an autosomal recessive pattern of inheritance." [] xref: MEDGEN:CN239222 is_a: EFO:0000407 ! dilated cardiomyopathy [Term] id: EFO:0010954 name: cask-related x-linked intellectual disability def: "XL-ID with or without nystagmus (rapid, involuntary eye movements) is a milder form of CASK-related intellectual disability. The intellectual disability in this form of the disorder can range from mild to severe; some affected females have normal intelligence. About half of affected individuals have nystagmus. Seizures and rhythmic shaking (tremors) may also occur in this form." [] synonym: "x-linked cask-related intellectual disability" EXACT [] synonym: "XL-ID" EXACT [] is_a: MONDO:0020119 ! X-linked syndromic intellectual disability [Term] id: EFO:0010955 name: muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 def: "An autosomal recessive limb-girdle congenital muscular dystrophy, characterized by muscle weakness and delayed motor development in association with cognitive impairment." [] synonym: "muscular dystrophy-dystroglycanopathy limb-girdle C12" EXACT [] synonym: "Muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related" EXACT [] xref: MedGen:CN221288 xref: MeSH:D049288 is_a: MONDO:0000173 ! muscular dystrophy-dystroglycanopathy, type C [Term] id: EFO:0010956 name: peroxisome biogenesis disorder, complementation group 7 def: "A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS)." [] synonym: "PBD-CG7" EXACT [] synonym: "Peroxisome biogenesis disorder complementation group B" EXACT [] xref: DI:00917 xref: MedGen:C1864399 xref: MeSH:D018901 is_a: MONDO:0019052 ! inborn errors of metabolism [Term] id: EFO:0010959 name: RNA extraction protocol def: "Nucleic acid extraction protocol that specifies a procedure for separating and recovering the RNA fraction of an input material." [https://orcid.org/0000-0003-0798-114X, PMID:31159762, PMID:31348903] is_a: EFO:0002944 ! nucleic acid extraction protocol property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010960 name: lumbar puncture def: "A method to collect cerebrospinal fluid (CSF) from a human donor, using a needle." [http://orcid.org/0000-0002-2443-7325, PMID:31937773] subset: http://www.ebi.ac.uk/efo/added_for_HCA synonym: "spinal tap" EXACT [] xref: NCIt:C15327 is_a: OBI:0600005 ! collecting specimen from organism property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010961 name: Visium Spatial Gene Expression def: "A spatial transcriptomics method developed by 10x Genomics that measures either the whole transcriptome or a defined set of transcripts in intact tissue sections and maps where gene activity is occurring." [http://orcid.org/0000-0001-7505-5418, https://pages.10xgenomics.com/rs/446-PBO-704/images/10x_LIT059_ProductSheet_VisiumSpatialGeneExpression_Letter_digital.pdf] subset: http://www.ebi.ac.uk/efo/added_for_HCA synonym: "10X Visium" EXACT [] synonym: "Visium" EXACT [] is_a: EFO:0008995 ! 10x technology is_a: EFO:0030005 ! spatial transcriptomics by high-throughput sequencing property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010962 name: Illumina NextSeq 1000 def: "The Illumina NextSeq 1000 is a benchtop high-throughput sequencing machine developed by Illumina. Its primary applications include exome sequencing, small whole-genome sequencing, whole-transcriptome sequencing and cytogenomic arrays. In contrast to the smaller NextSeq 550 model, an additional key application field is miRNA & Small RNA sequencing. When it was first commercialized, it had a maximum output of 120 Gb." [http://orcid.org/0000-0002-3110-8220, https://www.illumina.com/content/dam/illumina/gcs/assembled-assets/marketing-literature/nextseq-1000-2000-spec-sheet-770-2019-030/nextseq-1000-2000-spec-sheet-770-2019-030.pdf] is_a: EFO:0002699 ! high throughput sequencer property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010963 name: Illumina NextSeq 2000 def: "The Illumina NextSeq 2000 is a benchtop high-throughput sequencing machine developed by Illumina. Its primary applications include exome sequencing, small whole-genome sequencing, whole-transcriptome sequencing and cytogenomic arrays. In contrast to the smaller NextSeq 550 model, an additional key application field is miRNA & Small RNA sequencing. When it was first commercialized, it had a maximum output of 330 Gb." [http://orcid.org/0000-0002-3110-8220, https://www.illumina.com/content/dam/illumina/gcs/assembled-assets/marketing-literature/nextseq-1000-2000-spec-sheet-770-2019-030/nextseq-1000-2000-spec-sheet-770-2019-030.pdf] is_a: EFO:0002699 ! high throughput sequencer property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010964 name: barcoded plate-based single cell RNA-seq def: "A single-cell RNA sequencing library construction method that generates barcoded libraries and is plate-based. An example would be a plate-based method that is not Smart-seq2 or a modified, barcoded version of Smart-seq2." [http://orcid.org/0000-0002-2443-7325] subset: http://www.ebi.ac.uk/efo/added_for_HCA synonym: "barcoded plate-based single-cell RNA-seq" EXACT [] is_a: EFO:0010183 ! single cell library construction property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010965 name: RNAscope def: "RNAscope is a novel multiplex nucleic acid in situ hybridization (ISH) assay for detecting and visualising gene expression within intact cells." [http://orcid.org/0000-0001-7505-5418, https://aquila-bm.com/services/specialist-histology/rnascope/, PMID:22166544] subset: http://www.ebi.ac.uk/efo/added_for_HCA synonym: "RNAscope in situ hybridization assay" EXACT [] is_a: EFO:0009918 ! smFISH property_value: dc-creator "paola" xsd:string [Term] id: EFO:0010966 name: pneumonia severity measurement def: "Quantification of the severity of the symptoms of pneumonia, an inflammation of the lung parenchyma caused by an infection." [] xref: PMID:33357513 is_a: EFO:0007744 ! lung disease severity measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010967 name: urinary microalbumin measurement def: "The quantification of microalbumin in urine." [] xref: PMID:33462484 is_a: EFO:0005116 ! urinary metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010968 name: phosphate measurement def: "Quantification of phosphate levels in a sample." [] xref: PMID:33462484 is_a: EFO:0001444 ! measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 CHEBI:26020 ! is_about phosphate property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010969 name: response to growth hormone def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a growth hormone stimulus. Growth hormone is a peptide hormone that binds to the growth hormone receptor and stimulates growth." [] synonym: "response to growth hormone stimulus" EXACT [] synonym: "response to HGH" EXACT [] synonym: "response to human growth hormone" EXACT [] xref: GO:0060416 xref: PMID:32652002 is_a: GO:0050896 ! response to stimulus relationship: OBI:0000293 CHEBI:37845 ! has_input growth hormone property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0010970 name: severe malarial anemia def: "Severe malarial anemia is a leading cause of malaria-related morbidity and mortality in children. Inefficient erythropoiesis is a central pathogenic feature." [] synonym: "SMA" EXACT [] xref: PMID:31420016 is_a: EFO:0001068 ! malaria is_a: MONDO:0002280 ! anemia property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010971 name: response to metamizole def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of metamizole stimulus. Metamizole is an analgesic that carries a risk of causing agranulocytosis." [] xref: PMID:33138277 is_a: GO:0009410 ! response to xenobiotic stimulus relationship: IAO:0000136 CHEBI:62088 ! is_about metamizole property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0010972 name: blood phosphate measurement def: "The amount of phosphorus, measured as inorganic phosphate, in a specified sample of blood." [CMO:0000504] synonym: "blood phosphate level" EXACT [CMO:0000504] synonym: "serum inorganic phosphate concentration" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK310/] synonym: "serum inorganic phosphorus concentration" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK310/] synonym: "Serum phosphate level" EXACT [CMO:0000542] xref: ORCID:0000-0001-8222-008X xref: PMID:33462484 is_a: EFO:0001444 ! measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 CHEBI:35780 ! is_about phosphate ion intersection_of: IAO:0000136 UBERON:0000178 ! is_about blood property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sam Lambert" xsd:string [Term] id: EFO:0010973 name: NOZ def: "A human cancer cell line, derived from ascites of a patient of peritonitis carcinomatosa. The patient was diagnosed with adenocarcinoma tubular ++, moderately differentiated. This cell line was composed of polygonal, spindle and round shaped cells." [] synonym: "NOZAWA" EXACT [] synonym: "NOZC-1" EXACT [] xref: https://web.expasy.org/cellosaurus/CVCL_3079 xref: PMID:3154020 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line [Term] id: EFO:0010976 name: KOLF2-C1 def: "Human induced pluripotent stem cell line, derived from a healthy white British male, with a normal karyotype. A subclone of WTSIi018-B." [] synonym: "HPSI0114i-kolf_2-C1" EXACT [] synonym: "WTSIi018-B-1" EXACT [] xref: CLO:0102734 xref: https://hpscreg.eu/cell-line/WTSIi018-B-1 xref: https://web.expasy.org/cellosaurus/CVCL_9S58 is_a: EFO:0005740 ! iPSC derived cell line [Term] id: EFO:0010977 name: macrovascular complications of diabetes def: "Macrovascular complications associated with diabetes mellitus, including stroke, heart disease, and peripheral vascular disease." [] xref: PMID:33430853 is_a: EFO:0004264 ! vascular disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010978 name: chemotherapy-induced cytotoxicity measurement def: "Quantification of some aspect of cytotoxity such as survival time or cell viability, as a response to a chemotherapic drug." [] xref: PMID:33575800 is_a: EFO:0006952 ! cytotoxicity measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0010979 name: 2-hydroxyisobutyrate measurement def: "Quantification of 2-hydroxyisobutyrate in a sample." [] xref: PMID:33283231 is_a: EFO:0005116 ! urinary metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010980 name: 3-aminoisobutyrate measurement def: "Quantification of 3-aminoisobutyrate in a sample." [] xref: PMID:33283231 is_a: EFO:0005116 ! urinary metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010982 name: 3-hydroxybutyrate measurement def: "Quantification of 3-hydroxybutyrate in a sample." [] xref: PMID:33283231 is_a: EFO:0005116 ! urinary metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010983 name: 3-hydroxyisobutyrate measurement def: "Quantification of 3-hydroxyisobutyrate in a sample." [] xref: PMID:33283231 is_a: EFO:0005116 ! urinary metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010984 name: 3-hydroxyisovalerate measurement def: "Quantification of 3-hydroxyisovalerate in a sample." [] xref: PMID:33283231 is_a: EFO:0005116 ! urinary metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010985 name: 3-Indoxylsulfate measurement def: "Quantification of 3-Indoxylsulfate in a sample." [] xref: PMID:33283231 is_a: EFO:0005116 ! urinary metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010986 name: 4-deoxyerythronic acid measurement def: "Quantification of 4-deoxyerythronic acid in a sample." [] xref: PMID:33283231 is_a: EFO:0005116 ! urinary metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010987 name: 4-deoxythreonic acid measurement def: "Quantification of 4-deoxythreonic acid in a sample." [] xref: PMID:33283231 is_a: EFO:0005116 ! urinary metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010988 name: 5-oxoproline measurement def: "Quantification of 5-oxoproline in a sample." [] xref: PMID:33283231 is_a: EFO:0005116 ! urinary metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010989 name: acetone measurement def: "Quantification of acetone in a sample." [] xref: PMID:33283231 is_a: EFO:0005116 ! urinary metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010990 name: dimethylamine measurement def: "Quantification of dimethylamine in a sample." [] xref: PMID:33283231 is_a: EFO:0005116 ! urinary metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010991 name: formate measurement def: "Quantification of formate in a sample." [] xref: PMID:33283231 is_a: EFO:0005116 ! urinary metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010992 name: hippurate measurement def: "Quantification of hippurate in a sample." [] xref: PMID:33283231 is_a: EFO:0005116 ! urinary metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010993 name: n-acetyl neuraminic acid measurement def: "Quantification of n-acetyl neuraminic acid in a sample." [] xref: PMID:33283231 is_a: EFO:0005116 ! urinary metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010994 name: n-methyl-2-pyridone-5-carboxamide measurement def: "Quantification of n-methyl-2-pyridone-5-carboxamide in a sample." [] xref: PMID:33283231 is_a: EFO:0005116 ! urinary metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010995 name: n-methylnicotinic acid measurement def: "Quantification of n-methylnicotinic acid in a sample." [] xref: PMID:33283231 is_a: EFO:0005116 ! urinary metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010996 name: n-methylpicolinic acid measurement def: "Quantification of n-methylpicolinic acid in a sample." [] xref: PMID:33283231 is_a: EFO:0005116 ! urinary metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010997 name: n1-methyl-nicotinamide measurement def: "Quantification of n1-methyl-nicotinamide in a sample." [] xref: PMID:33283231 is_a: EFO:0005116 ! urinary metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010998 name: p-cresol sulfate measurement def: "Quantification of p-cresol sulfate in a sample." [] xref: PMID:33283231 is_a: EFO:0005116 ! urinary metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0010999 name: p-hydroxyphenylacetate measurement def: "Quantification of p-hydroxyphenylacetate in a sample." [] xref: PMID:33283231 is_a: EFO:0005116 ! urinary metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0011000 name: proline betaine measurement def: "Quantification of proline beatine in a sample." [] xref: PMID:33283231 is_a: EFO:0005116 ! urinary metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0011001 name: scyllo-inositol measurement def: "Quantification of scyllo-inositol in a sample." [] xref: PMID:33283231 is_a: EFO:0005116 ! urinary metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0011002 name: succinate measurement def: "Quantification of succinate in a sample." [] xref: PMID:33283231 is_a: EFO:0005116 ! urinary metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0011003 name: trimethylamine measurement def: "Quantification of trimethylamine in a sample." [] xref: PMID:33283231 is_a: EFO:0005116 ! urinary metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0011004 name: trimethylamine oxide measurement def: "Quantification of trimethylamine oxide in a sample." [] xref: PMID:33283231 is_a: EFO:0005116 ! urinary metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0011005 name: urea measurement def: "Quantification of urea in a sample." [] xref: PMID:33283231 is_a: EFO:0005116 ! urinary metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0011007 name: estrogen measurement def: "Quantification of the levels of estrogen, or osetrogen, a category of sex hormone responsible for the development and regulation of the female reproductive system and secondary sex characteristics. There are three major endogenous estrogens that have estrogenic hormonal activity: estrone (E1), estradiol (E2), and estriol (E3). Another estrogen called estetrol (E4) is produced only during pregnancy" [http://purl.obolibrary.org/obo/CHEBI_50114, https://en.wikipedia.org/wiki/Estrogen] synonym: "estrogen levels" EXACT [] synonym: "oestrogen levels" EXACT [] synonym: "oestrogen measurement" EXACT [] xref: PMID:32701512 is_a: EFO:0011008 ! sex hormone measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 CHEBI:50114 ! is_about estrogen relationship: IAO:0000136 CHEBI:50112 ! is_about sex hormone property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0011008 name: sex hormone measurement def: "The determination of the amount of a sex hormone present in a sample." [] is_a: EFO:0004730 ! hormone measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 CHEBI:50112 ! is_about sex hormone property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0011009 name: glycochenodeoxycholate 3-O-glucuronide measurement def: "Quantification of the amount of glycochenodeoxycholate 3-O-glucuronide in a sample." [] synonym: "GCDCA-3G" EXACT [] xref: PMID:32961594 is_a: EFO:0010490 ! glycochenodeoxycholate measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0011010 name: glycodeoxycholate 3-O-glucuronide measurement def: "Quantification of the amount of glycodeoxycholate 3-O-glucuronide in a sample." [] synonym: "GDCA-3G" EXACT [] xref: PMID:32961594 is_a: EFO:0010493 ! glycodeoxycholate measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0011011 name: sitting height measurement def: "Quantification of some aspect of height, when assuming a sitting position." [] xref: PMID:33623009 is_a: EFO:0004302 ! anthropometric measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0011012 name: blood bicarbonate measurement def: "The determination of the amount of bicarbonate present in a blood sample." [] synonym: "blood sodium bicarbonate measurement" EXACT [] xref: PMID:33623009 is_a: EFO:0005664 ! blood metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0011013 name: vaginal microbiome measurement def: "Quantification of some aspect of an individual's microbiome of the vagina." [] synonym: "vaginal flora measurement" EXACT [] synonym: "vaginal microbiota measurement" EXACT [] xref: PMID:32723796 is_a: EFO:0007882 ! microbiome measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Aoife McMahon" xsd:string [Term] id: EFO:0011014 name: health-related quality of life measurement def: "A measure to assess health-related quality of life (HRQOL), which domains include physical health, emotional health, cognitive functioning, fatigue and pain." [] synonym: "HRQOL" EXACT [] xref: PMID:33578652 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0011015 name: educational attainment def: "A measure of academic performance through educational benchmarks such as national exams and curriculum assessments." [] synonym: "academic attainment" EXACT [] xref: PMID:33594131 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0011016 name: immunoFISH def: "ImmunoFISH is a method combining immunolabelling (IL) with fluorescent in situ hybridisation (FISH) to simultaneously detect the nuclear distribution of proteins and specific DNA sequences within chromosomes." [https://orcid.org/0000-0003-2452-6384, PMID:30154816] is_a: OBI:0001686 ! in-situ hybridization assay property_value: dc-creator "paolaroncaglia" xsd:string [Term] id: EFO:0011017 name: B6-Ly5.1 def: "This C57BL/6 congenic strain is used widely in transplant studies because it carries the differential Ptprca pan leukocyte marker commonly known as CD45.1 or Ly5.1. Wild-type C57BL/6 inbred mice express the Ptprcb (CD45.2 or Ly5.2) allele." [https://orcid.org/0000-0002-3110-8220, PMID:3864163] synonym: "B6-Cd45.1" EXACT [] synonym: "B6.SJL-PtprcaPepcb/BoyJ" EXACT [] synonym: "Pep Boy" EXACT [] xref: https://www.jax.org/strain/002014 is_a: EFO:0000606 ! C57BL/6J property_value: dc-creator "paolaroncaglia" xsd:string [Term] id: EFO:0011018 name: brain-derived neurotrophic factor measurement def: "Quantification of the amount of brain-derived neurotrophic factor present in a sample" [] synonym: "BDNF" EXACT [] xref: http://purl.obolibrary.org/obo/NCIT_C82004 xref: PMID:33345186 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0011021 name: BRCA1 mutation carier status def: "Determination of the presence or absence of known harmful mutation(s) in the BRAC1 gene. BRCA1/BRCA2 genes play a central role in DNA repair and their mutations increase sensitivity to DNA-damaging agents. BRCA1/BRCA2 germline mutations significantly increase the risk of breast and ovarian cancer." [] {http://www.ebi.ac.uk/efo/definition_citation="doi:10.1001/jama.2017.7112"} synonym: "BRCA1 carrier status" EXACT [] synonym: "BRCA1 mutation status" EXACT [] xref: PMID:33597508 is_a: EFO:0007658 ! carrier status relationship: IAO:0000136 MONDO:0007254 ! is_about breast cancer relationship: IAO:0000136 MONDO:0008170 ! is_about ovarian cancer property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0011022 name: BRCA2 mutation carier statu def: "Determination of the presence or absence of known harmful mutation(s) in the BRAC2 gene. BRCA1/BRCA2 genes play a central role in DNA repair and their mutations increase sensitivity to DNA-damaging agents. BRCA1/BRCA2 germline mutations significantly increase the risk of breast and ovarian cancer." [] {http://www.ebi.ac.uk/efo/definition_citation="doi:10.1001/jama.2017.7112"} synonym: "BRCA2 carrier status" EXACT [] synonym: "BRCA2 mutation status" EXACT [] xref: PMID:33597508 is_a: EFO:0007658 ! carrier status relationship: IAO:0000136 MONDO:0007254 ! is_about breast cancer relationship: IAO:0000136 MONDO:0008170 ! is_about ovarian cancer property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0011023 name: concussion def: "A concussion, also known as a mild traumatic brain injury (mTBI), is a head injury that temporarily affects brain functioning. It is usually caused by a bump, blow or jolt to the head." [] {http://www.ebi.ac.uk/efo/definition_citation="https://en.wikipedia.org/wiki/Concussion"} synonym: "brain concussion" EXACT [] synonym: "mild TBI" EXACT [] synonym: "mild traumatic brain injury" EXACT [] synonym: "mTBI" EXACT [] xref: NCIT:C50502 xref: OMIT:0003280 xref: PMID:33017352 is_a: EFO:0009505 ! head injury is_a: MONDO:0043510 ! brain injury property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Langley" xsd:string [Term] id: EFO:0011024 name: response to liver transplant def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of liver a transplant." [] xref: PMID:33445220 is_a: EFO:0007043 ! response to transplant property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0011025 name: 10x 5' v1 def: "10x 5' v1 is the first version of the 10X sequencing technology that sequences from the 5' end of nucleic acid molecules. Differs from 3' v1 in the captured end from the polyadenylated transcript." [] subset: http://www.ebi.ac.uk/efo/added_for_HCA synonym: "10X 5' v1" EXACT [] synonym: "10x 5' v1" EXACT [] synonym: "10x 5' v1 sequencing" RELATED [] synonym: "10X 5' v3" RELATED [] synonym: "10x 5' v3" RELATED [] synonym: "10x 5' v3 sequencing" RELATED [] synonym: "10x v1 5' sequencing" RELATED [] is_a: EFO:0030004 ! 10x 5' transcription profiling property_value: dc-creator "paola" xsd:string [Term] id: EFO:0011026 name: enzyme-free chemical dissociation def: "A sample dissociation process which uses non-enzymatic chemicals to separate the cells in a specimen. An example is the ReLeSR reagent (STEMCELL Technologies)." [http://orcid.org/0000-0002-6583-8504, PMID:30449713] subset: http://www.ebi.ac.uk/efo/added_for_HCA synonym: "chemical dissociation" EXACT [] synonym: "enzyme-free non-mechanical dissociation" EXACT [] synonym: "non-enzymatic chemical dissociation" EXACT [] is_a: EFO:0009091 ! sample dissociation property_value: dc-creator "paola" xsd:string [Term] id: EFO:0011027 name: Illumina HiSeq 1500 def: "The Illumina HiSeq 1500 is a sequencing machine developed by Illumina." [https://orcid.org/0000-0002-3163-0115] subset: http://www.ebi.ac.uk/efo/added_for_HCA is_a: EFO:0002699 ! high throughput sequencer property_value: dc-creator "paola" xsd:string [Term] id: EFO:0011028 name: BRB-seq def: "BRB-seq is a UMI-based 3' assay for low-cost, highly-multiplexed transcriptome profiling of bulk samples." [http://orcid.org/0000-0002-3564-4813, PMID:30999927] synonym: "bulk RNA barcoding and sequencing" EXACT [] is_a: EFO:0001457 ! RNA assay property_value: dc-creator "paola" xsd:string [Term] id: EFO:0011029 name: tracheal brush def: "The process of collecting a specimen of epithelial cells and other effector cells from the tracheal mucosa using a small brush." [DOI:10.1101/2021.03.09.21253012, https://orcid.org/0000-0001-7505-5418] subset: http://www.ebi.ac.uk/efo/added_for_HCA synonym: "tracheal brushing" EXACT [] is_a: OBI:0600005 ! collecting specimen from organism property_value: dc-creator "paola" xsd:string [Term] id: EFO:0011030 name: C57BL/6NCrl def: "The C57BL/6NCrl is an inbred mouse strain derived from stock given to Charles River from the NIH in 1974." [http://www.informatics.jax.org/strain/MGI\:2683688, https://orcid.org/0000-0001-7505-5418, PMID:32788667] subset: http://www.ebi.ac.uk/efo/added_for_HCA synonym: "C57BL/6NCrlBR" EXACT [] synonym: "C57BL/6NCrlBr" EXACT [] is_a: EFO:0005181 ! C57BL property_value: dc-creator "paola" xsd:string [Term] id: EFO:0011031 name: intestinal permeability measurement def: "Quantification of the intestinal permeability barrier status, for example measured by the ratio of the fractional excretion of lactulose to mannitol (LacMan ratio)" [] synonym: "gut permeability measurement" EXACT [] xref: doi:10.1111/nmo.12871 xref: PMID:31251335 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:0009431 ! is_about intestinal disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0011032 name: fractional excretion of lactulose to mannitol ratio def: "The gold standard for functional measurements of intestinal permeability in humans is the lactulose/ mannitol test, which measures urinary excretion of the two orally administered non-metabolized sugars over a 6 h period. Analysis by high pressure liquid chromatography or liquid chromatography in combination with mass spectrometry is usually performed on urine samples." [doi: 10.1111/nmo.12871] synonym: "LacMan ratio" EXACT [] synonym: "lactulose mannitol test" EXACT [] xref: PMID:31251335 is_a: EFO:0011031 ! intestinal permeability measurement property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0011033 name: ST segment duration def: "Electrocardiography measurement of the duration from the end of the S wave to the start of the T wave" [] xref: PMID:32602732 is_a: EFO:0004327 ! electrocardiography property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0011034 name: T wave duration def: "Electrocardiography measurement of the duration from the start of the T wave to the end of the T wave." [] xref: PMID:32602732 is_a: EFO:0004327 ! electrocardiography property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0011035 name: TP segment duration def: "Electrocardiography measurement of the duration from the end of the T wave to the start of the P wave." [] xref: PMID:32602732 is_a: EFO:0004327 ! electrocardiography property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0011036 name: matrix metalloproteinase–degraded type I collagen measurement def: "Quantification of matrix metalloproteinase-degraded type I collagen (also known as metabolite of type I collagen) in a sample." [] synonym: "matrix metalloproteinase (MMP)-degraded type I collagen (C1M) measurement" EXACT [] synonym: "MMP-mediated type I collagen degradation measurement" EXACT [] synonym: "type I collagen metabolite measurement" EXACT [] xref: PMID:33134509 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0011037 name: anti-human herpes virus 6 antibody measurement def: "Quantification of the amount of antibody to human herpes virus 6 in a sample." [] xref: PMID:33204752 is_a: EFO:0004556 ! antibody measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0011038 name: anti-human herpes virus 7 antibody measurement def: "Quantification of the amount of antibody to human herpes virus 7 in a sample." [] xref: PMID:33204752 is_a: EFO:0004556 ! antibody measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0011039 name: myeloperoxidase (MPO)-DNA complex measurement def: "Quantification of myeloperoxidase (MPO)-DNA complex levels in a biological specimen. Plasma MPO-DNA complex levels typically measured by immunofluorescence or ELISA are used to detect neutrophil extracellular trap (NETs) formation." [] synonym: "MPO-DNA complex" EXACT [] xref: PMID:31172493 xref: PMID:33717105 is_a: EFO:0004503 ! hematological measurement is_a: EFO:0004747 ! protein measurement relationship: IAO:0000136 CHEBI:16991 ! is_about deoxyribonucleic acid relationship: IAO:0000136 CHEBI:36080 ! is_about protein relationship: IAO:0000136 CL:0000775 ! is_about neutrophil relationship: IAO:0000136 OBI:0000427 ! is_about enzyme property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0011041 name: response to BCG intravesical immunotherapy def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of the intravesical administration of Mycobacterium bovis BCG solution. Live attenuated BCG is used as a therapeutic agent for non-muscle invasive bladder cancer." [https://www.cancer.org/cancer/bladder-cancer/treating/intravesical-therapy.html, PMID:32123936] synonym: "response to Bacillus Calmette Guerin strain of Mycobacterium bovis" EXACT [] synonym: "response to Bacillus Calmette Guerin strain of Mycobacterium bovis solution" EXACT [] synonym: "response to Bacillus Calmette Guerin strain of Mycobacterium bovis vaccine" EXACT [] synonym: "response to Bacillus Calmette-Guerin strain of Mycobacterium bovis" EXACT [] synonym: "response to BCG" EXACT [] synonym: "response to BCG immunotherapy" EXACT [] synonym: "response to intravesical immunotherapy with live attenuated BCG" EXACT [] synonym: "response to live intravesical BCG" EXACT [] synonym: "response to Mycobacterium bovis BCG" EXACT [] is_a: GO:0097327 ! response to antineoplastic agent relationship: IAO:0000136 EFO:0006544 ! is_about bladder transitional cell carcinoma property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string created_by: http://orcid.org/0000-0002-5460-8025 [Term] id: EFO:0011043 name: neck circumference def: "A circumferential measurement of the neck." [] xref: NCIT:C154891 xref: PMID:33907307 is_a: EFO:0004324 ! body weights and measures relationship: IAO:0000136 UBERON:0000974 ! is_about neck property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string created_by: http://orcid.org/0000-0002-5460-8025 [Term] id: EFO:0011044 name: BMI-adjusted neck circumference def: "A circumferential measurement of the neck that has been adjusted for subjects' body mass index." [] xref: PMID:33907307 is_a: EFO:0011043 ! neck circumference relationship: IAO:0000136 UBERON:0000974 ! is_about neck property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string created_by: http://orcid.org/0000-0002-5460-8025 [Term] id: EFO:0011045 name: fetal weight def: "The mass or quantity of heaviness of an fetus in utero. It is expressed by units of pounds or kilograms." [] xref: NCIT:C124479 xref: PMID:32407400 is_a: EFO:0004338 ! body weight property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string created_by: http://orcid.org/0000-0002-5460-8025 [Term] id: EFO:0011046 name: carcinogenicity def: "Toxicity that causes or increases the incidence of malignant neoplasia (cancer). This can include carcinoma, sarcoma, lymphoma, leukemia." [] xref: http://purl.enanomapper.org/onto/ENM_0000029 xref: MedDRA:10007269 is_a: EFO:0011061 ! toxicity is_a: MONDO:0023370 ! neoplastic disease or syndrome [Term] id: EFO:0011047 name: central nervous system toxicity def: "Toxicity that causes injury to the central nervous system or damages its function. This can include stroke, multiple sclerosis, encephalopathy, dementia, Alzheimer's disease, dyskinesia, tremor, convulsions and Parkinson's disease." [] synonym: "CNS toxicity" EXACT [] xref: MedDRA:10071216 is_a: EFO:0011057 ! neurotoxicity [Term] id: EFO:0011048 name: dermatological toxicity def: "Toxicity that causes injury to the skin and subcutaneous tissue or damages its function. This can include severe dermatitis, Stevens-Johnson syndrome, urticaria. " [] synonym: "dermal toxicity" EXACT [] synonym: "dermatologic toxicity" EXACT [] synonym: "skin toxicity" EXACT [] xref: MedDRA:10059516 xref: ENM:0000025 is_a: EFO:0000701 ! skin disease is_a: EFO:0011061 ! toxicity [Term] id: EFO:0011049 name: drug misuse def: "Misuse of drugs. The use of a drug for a purpose not consistent with legal or medical guidelines. Can include accidental poisoning, drug misuse and overdose. It includes the use of a drug to satisfy dependence (see also 'Psychiatric Toxicity' term that includes substance-related disorders such as drug dependency)." [] xref: MedDRA:10074903 xref: MedDRA:10079146 is_a: EFO:0011061 ! toxicity is_a: MONDO:0002494 ! substance-related disorder property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0011050 name: gastrointestinal toxicity def: "Toxicity that causes injury to the gastrointestinal tract or damages its function. Usually caused by exposure to xenobiotics such as drugs, food additives, alcohol, chlorinated solvents, peroxidized fatty acids, fungal toxins, radioactive isotopes, environmental toxicants, and even some medicinal plants. This can include gastric perforation, colitis, inflammatory bowel disease. " [] xref: MedDRA:10059024 is_a: EFO:0010282 ! gastrointestinal disease is_a: EFO:0011061 ! toxicity [Term] id: EFO:0011051 name: hematological toxicity def: "Toxicity that causes impairs the blood or lymphatic system or damages its function. This can include thrombocytopenia, hemorrhagic disorder, neutropenia. " [] synonym: "haematological toxicity" EXACT [] synonym: "hematologic toxicity" EXACT [] synonym: "hematotoxicity " EXACT [] xref: MedDRA:10061188 xref: MedDRA:10061196 is_a: EFO:0005803 ! hematologic disease is_a: EFO:0011061 ! toxicity [Term] id: EFO:0011052 name: hepatotoxicity def: "Toxicity that causes injury to the liver or impairs the liver function. Usually caused by exposure to xenobiotics such as drugs, food additives, alcohol, chlorinated solvents, peroxidized fatty acids, fungal toxins, radioactive isotopes, environmental toxicants, and some medicinal plants. This can include cholestasis, liver injury, hepatitis, jaundice. " [] synonym: "drug induced liver injury" EXACT [] synonym: "hepatic injury" EXACT [] synonym: "liver toxicity" EXACT [] xref: MedDRA:10019851 xref: MeSH:D056486 is_a: EFO:0010284 ! hepatobiliary disease is_a: EFO:0011061 ! toxicity [Term] id: EFO:0011053 name: immune system toxicity def: "Any adverse effect on the structure or function of the immune system, or on other systems as a result of immune system dysfunction. This can include severe allergy, anaphalytic shock, graft versus host disease." [] synonym: "immunotoxicity" EXACT [] xref: NCIt:C63814 xref: NPO:1339 is_a: EFO:0000540 ! immune system disease is_a: EFO:0011061 ! toxicity property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0011054 name: metabolic toxicity def: "Toxicity that causes impairs the (energy) metabolic system or damages its function. This can include lactic acidosis, obesity, hypochloremia, polydipsia, hyperkalemia, diabetes mellitus (type I and II) hyperglycemia, hypoglycemia, hyperlipidemia, gout, vitamin C deficiency. " [] is_a: EFO:0000589 ! metabolic disease is_a: EFO:0011061 ! toxicity [Term] id: EFO:0011055 name: musculoskeletal toxicity def: "Toxicity that causes injury to the muscles, bones, joints and connective tissues or damages its function. This can include scleroderma, Reynold's syndrome, Lupus erythematosus, allergic rhinitis, osteoarthritis, rheumatoid arthritis, ankylosing spondylitis, rhabdomyolysis. " [] xref: MedDRA:10082578 is_a: EFO:0009676 ! musculoskeletal system disease is_a: EFO:0011061 ! toxicity [Term] id: EFO:0011056 name: nephrotoxicity def: "Toxicity that causes injury to the kidney or damages its function. This can include nephritis, renal failure, injury to kidney." [] synonym: "kidney injury" EXACT [] synonym: "kidney toxicity" EXACT [] synonym: "renal toxicity" EXACT [] xref: MedDRA:10029155 xref: MedDRA:10067571 xref: NCIt:C115459 xref: SCTID:236514003 is_a: EFO:0009690 ! urinary system disease is_a: EFO:0011061 ! toxicity [Term] id: EFO:0011057 name: neurotoxicity def: "Toxicity that causes injury to the central or peripheral nervous system or damages its function. This can include stroke, multiple sclerosis, encephalopathy, dementia, Alzheimer's disease, amnesia, dyskinesia, Parkinson's disease, tremor, convulsions and Guillain Barre syndrome. " [] xref: MedDRA:10029350 is_a: EFO:0000618 ! nervous system disease is_a: EFO:0011061 ! toxicity property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0011058 name: peripheral neurotoxicity def: "Toxicity that causes injury to the peripheral nervous system or damages its function. This can include Guillain Barre syndrome." [] xref: MedDRA:10082906 is_a: EFO:0011057 ! neurotoxicity [Term] id: EFO:0011059 name: psychiatric toxicity def: "Toxicity that causes psychiatric disorders. This can include anxiety, depression, schizophrenia, sleep disorder, suicide ideation, suicide attempt. It also can include disorders related to substance abuse such as drug dependence and substance-related disorders (see also 'Drug Misuse' term that includes the use of a drug to satisfy dependence)." [] is_a: EFO:0011061 ! toxicity is_a: MONDO:0002025 ! psychiatric disorder [Term] id: EFO:0011060 name: respiratory toxicity def: "Toxicity that impairs the respiratory system or damages its function. This can include bronchospasm, pulmonary toxicity, pulmonay hypertension, pulmonary embolism. " [] xref: NCIt:C177374 is_a: EFO:0000684 ! respiratory system disease is_a: EFO:0011061 ! toxicity [Term] id: EFO:0011061 name: toxicity def: "The degree to which an agent can damage an organism." [] xref: MeSH:Q000633 xref: NCIT:C27990 is_a: EFO:0000546 ! injury [Term] id: EFO:0011062 name: vascular toxicity def: "Toxicity that impairs the vascular system or damages its function. This can include hypertension, hypotension. " [] is_a: EFO:0004264 ! vascular disease is_a: EFO:0011061 ! toxicity [Term] id: EFO:0011063 name: recessive lissencephaly def: "Lissencephaly with an autosomal recessive inheritance pattern." [] xref: MedGen:893379 is_a: Orphanet:48471 ! Lissencephaly property_value: IAO:0000117 "Baron Koylass" xsd:string [Term] id: EFO:0011064 name: recessive spherocytosis def: "recessive spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis inherited through a recessive inheritance pattern." [] xref: PMID:9573679 is_a: Orphanet:98364 ! Rare constitutional hemolytic anemia due to a red cell membrane anomaly property_value: IAO:0000117 "Baron Koylass" xsd:string [Term] id: EFO:0020000 name: developmental and epileptic encephalopathy 94 def: "Developmental and epileptic encephalopathy-94 (DEE94) is a severe form of epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and impaired intellectual development (summary by Carvill et al., 2013)." [] synonym: "CHD2-Related Neurodevelopmental Disorders" EXACT [] synonym: "DEE94" EXACT [] synonym: "Epileptic encephalopathy, childhood-onset" EXACT [] xref: OMIM:615369 is_a: MONDO:0100062 ! developmental and epileptic encephalopathy [Term] id: EFO:0020001 name: drug resistance def: "The state of primary insensitivity or greatly reduced sensitivity of a given organism to the action of one or more drugs." [https://orcid.org/0000-0002-2417-7324] synonym: "NCIT:C16523" EXACT [] is_a: GO:0008150 ! biological_process property_value: dc-creator "zmp" xsd:string [Term] id: EFO:0020002 name: lack of efficacy def: "Absent or significantly reduced efficacy of drug intervention characterized by lack of measurable benefit or deterioration of disease course." [https://orcid.org/0000-0002-2417-7324] synonym: "lack of drug effect" EXACT [] synonym: "refractory drug response" EXACT [] xref: HP:0020174 xref: MedDRA:10013709 xref: SCTID:58848006 is_a: GO:0008150 ! biological_process property_value: dc-creator "zmp" xsd:string [Term] id: EFO:0020003 name: drug toxicity def: "An adverse effect of a drug used therapeutically or diagnostically." [https://orcid.org/0000-0002-2417-7324] xref: NCIT:C27955 xref: NPO:1341 xref: OAE:0001804 xref: TXPO:0004320 is_a: GO:0008150 ! biological_process property_value: dc-creator "zmp" xsd:string [Term] id: EFO:0020004 name: CH12F3 def: "CH12F3 is a B-lymphocyte cell line that is a subclone of the IgM+ CH12.LX lymphoma cell line." [] xref: PMID:8671604 is_a: EFO:0005233 ! CH12.LX relationship: has_characteristic EFO:0000574 ! lymphoma property_value: dc-creator "zmp" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2021-09-13T08:04:38Z xsd:dateTime [Term] id: EFO:0020005 name: pheochromocytoma-paraganglioma def: "A rare neuroendocrine tumor arising from chromaffin cells of the adrenal medulla (pheochromocytoma) or from sympathetic and parasympathetic ganglia (paraganglioma). These tumors are most often benign and may produce catecholamines in excess causing hypertension and sometimes severe acute cardiovascular complications." [Orphanet:573163] xref: Orphanet:573163 is_a: EFO:0003850 ! adrenal gland neoplasm property_value: dc-creator "zmp" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2021-09-13T10:55:17Z xsd:dateTime [Term] id: EFO:0020006 name: enterocele def: "A prolapse of female genital organ that is characterized by the descent of a peritoneal sac containing small bowel into the rectovagnial space causing a bulge in the posterior vaginal wall." [] synonym: "vaginal enterocele" EXACT [] xref: DOID:1283 xref: ICD10CM:K46 xref: ICD9CM:618.6 xref: MESH:D006547 xref: SNOMEDCT:47671001 xref: UMLS:C0205792 is_a: MONDO:0001592 ! prolapse of female genital organ property_value: dc-creator "zmp" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2021-10-14T11:07:04Z xsd:dateTime [Term] id: EFO:0020007 name: X-21467 measurement def: "Quantification of X-21467 levels in a sample." [https://orcid.org/0000-0002-2417-7324] xref: PMID:34436474 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "zmp" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2021-10-26T11:17:42Z xsd:dateTime [Term] id: EFO:0020008 name: campesterol measurement def: "Quantification of the campesterol levels in a sample. Campesterol is a phytosterol (molecular formula C28H48O) whose chemical structure is similar to that of cholesterol." [https://orcid.org/0000-0002-2417-7324] xref: PMID:11432711 is_a: EFO:0004529 ! lipid measurement property_value: dc-creator "zmp" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2021-10-26T11:22:09Z xsd:dateTime [Term] id: EFO:0020009 name: ethylmalonate measurement def: "Quantification of ethylmalonate levels in a sample." [https://orcid.org/0000-0002-2417-7324] xref: SNOMEDCT:104659004 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "zmp" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2021-10-26T11:26:46Z xsd:dateTime [Term] id: EFO:0020010 name: butyrylcarnitine measurement def: "Quantification of butyrylcarnitine levels in a sample." [https://orcid.org/0000-0002-2417-7324] xref: PMID:18500942 is_a: EFO:0010469 ! carnitine measurement property_value: dc-creator "zmp" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2021-10-26T11:28:43Z xsd:dateTime [Term] id: EFO:0020011 name: X-16964 measurement def: "Quantification of X-16964 levels in a sample." [https://orcid.org/0000-0002-2417-7324] is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "zmp" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2021-10-26T11:30:41Z xsd:dateTime [Term] id: EFO:0020012 name: indolelactate measurement def: "Quantification of indolelactate levels in a sample." [https://orcid.org/0000-0002-2417-7324] is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "zmp" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2021-10-26T11:31:36Z xsd:dateTime [Term] id: EFO:0020013 name: 5-methyluridine (ribothymidine) measurement def: "Quantification of 5-methyluridine levels in a sample." [https://orcid.org/0000-0002-2417-7324] is_a: EFO:0010545 ! uridine diphosphate measurement property_value: dc-creator "zmp" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2021-10-26T11:34:48Z xsd:dateTime [Term] id: EFO:0020014 name: 1-(1-enyl-stearoyl)-2-linoleoyl-GPE (P-18:0/18:2)* measurement def: "Quantification of 1-(1-enyl-stearoyl)-2-linoleoyl-GPE (P-18:0/18:2) levels in a sample." [] {def="https://orcid.org/0000-0002-2417-7324"} synonym: "1-(1-enyl-stearoyl)-2-linoleoyl-GPE measurement;GPE(P-18:0/18:2) measurement" EXACT [] xref: https://pubchem.ncbi.nlm.nih.gov/compound/122198213 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "zmp" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2021-10-26T11:35:59Z xsd:dateTime [Term] id: EFO:0020015 name: X-11593 measurement def: "Quantification of X-11593 levels in a sample." [https://orcid.org/0000-0002-2417-7324] xref: PMID:23093944 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "zmp" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2021-10-26T11:38:06Z xsd:dateTime [Term] id: EFO:0020016 name: X-21444 measurement def: "Quantification of X-21444 levels in a sample." [https://orcid.org/0000-0002-2417-7324] is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "zmp" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2021-10-26T11:39:30Z xsd:dateTime [Term] id: EFO:0020017 name: 2-aminobutyrate measurement def: "Quantification of 2-aminobutyrate levels in a sample." [https://orcid.org/0000-0002-2417-7324] xref: SNOMEDCT:412904008 is_a: EFO:0005134 ! amino acid measurement property_value: dc-creator "zmp" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2021-10-26T11:40:12Z xsd:dateTime [Term] id: EFO:0020018 name: glycerophosphorylcholine measurement def: "Quantification of glycerophosphorylcholine levels in a sample." [https://orcid.org/0000-0002-2417-7324] synonym: "GPC measurement" EXACT [] xref: NCIt:C15826 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0004729 ! vitamin measurement is_a: EFO:0010968 ! phosphate measurement property_value: dc-creator "zmp" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2021-10-26T11:41:56Z xsd:dateTime [Term] id: EFO:0020019 name: isovalerylcarnitine measurement def: "Quantification of isovalerylcarnitine levels in a sample." [https://orcid.org/0000-0002-2417-7324] xref: SNOMEDCT:121799004 is_a: EFO:0010469 ! carnitine measurement property_value: dc-creator "zmp" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2021-10-26T11:43:56Z xsd:dateTime [Term] id: EFO:0020020 name: succinylcarnitine measurement def: "Quantification of succinylcarnitine levels in a sample." [https://orcid.org/0000-0002-2417-7324] is_a: EFO:0010469 ! carnitine measurement property_value: dc-creator "zmp" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2021-10-26T11:45:02Z xsd:dateTime [Term] id: EFO:0020021 name: N-acetyltyrosine measurement def: "Quantification of N-acetyltyrosine levels in a sample." [https://orcid.org/0000-0002-2417-7324] synonym: "N-Acetyl-L-tyrosine measurement" EXACT [] xref: SNOMEDCT:121817007 is_a: EFO:0005134 ! amino acid measurement property_value: dc-creator "zmp" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2021-10-26T11:45:56Z xsd:dateTime [Term] id: EFO:0020022 name: N-acetylneuraminate measurement def: "Quantification of N-acetylneuraminate levels in a sample." [https://orcid.org/0000-0002-2417-7324] synonym: "NANA measurement" EXACT [] synonym: "Neu5Ac measurement" EXACT [] xref: PMID:1525488 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "zmp" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2021-10-26T11:47:38Z xsd:dateTime [Term] id: EFO:0020023 name: N-acetyltaurine measurement def: "Quantification of N-acetyltaurine levels in a sample." [https://orcid.org/0000-0002-2417-7324] synonym: "NAcT measurement" EXACT [] xref: PMID:27520321 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "zmp" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2021-10-26T11:49:20Z xsd:dateTime [Term] id: EFO:0020024 name: X-15728 measurement def: "Quantification of X-15728 levels in a sample." [https://orcid.org/0000-0002-2417-7324] is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "zmp" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2021-10-26T11:50:46Z xsd:dateTime [Term] id: EFO:0020025 name: central hypoventilation syndrome, late-onset def: "A rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system." [] is_a: EFO:0009532 ! autonomic nervous system disease is_a: MONDO:0002254 ! syndromic disease is_a: MONDO:0021635 ! neurocristopathy property_value: dc-creator "zmp" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2021-10-28T07:40:44Z xsd:dateTime [Term] id: EFO:0020026 name: autosomal recessive retinitis pigmentosa def: "Autosomal recessive retinitis pigmentosa (RP) is an autosomally recessive inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades." [] xref: Medgen:C0339526 xref: SNOMEDCT:232053004 is_a: Orphanet:71862 ! Retinal dystrophy property_value: dc-creator "zmp" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2021-10-28T07:43:55Z xsd:dateTime [Term] id: EFO:0020027 name: susceptibility to partial acquired lipodystrophy def: "Acquired partial lipodystrophy is characterized clinically by the gradual onset of bilaterally symmetrical loss of subcutaneous fat from the face, neck, upper extremities, thorax, and abdomen, in the 'cephalocaudal' sequence, sparing the lower extremities (summary by Misra et al., 2004). The disorder is not inherited in a classic mendelian pattern; it rather represents a phenotype with a complex etiology. Affected individuals may have genetic susceptibility factors that require the additional presence of environmental factors or acquired disorders to be expressed (summary by Hegele et al., 2006). Most cases are sporadic, family history is negative, and females are more often affected than males (ratio, 4:1)." [] synonym: "APLD" EXACT [] synonym: "APLD, susceptibility to" EXACT [] synonym: "Barraquer-Simons syndrome" EXACT [] synonym: "lipodystrophy, cephalothoracic type" EXACT [] synonym: "partial progressive lipodystrophy" EXACT [] xref: Medgen:C3887501 xref: OMIM:608709 is_a: EFO:1000727 ! lipodystrophy property_value: dc-creator "zmp" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2021-10-28T07:52:14Z xsd:dateTime [Term] id: EFO:0020028 name: autosomal dominant retinitis pigmentosa def: "Autosomal dominant retinitis pigmentosa (RP) is an autosomally dominant inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades." [] xref: Medgen:CN239354 is_a: Orphanet:71862 ! Retinal dystrophy property_value: dc-creator "zmp" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2021-10-28T07:56:15Z xsd:dateTime [Term] id: EFO:0020029 name: autosomal recessive cone rod dystrophy def: "autosomal cone rod dystrophy is an autosomally recessive inherited retinal dystrophy that belongs to the group of pigmentary retinopathies." [] xref: Medgen:CN239309 is_a: Orphanet:1872 ! Cone rod dystrophy property_value: dc-creator "zmp" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2021-10-28T08:03:54Z xsd:dateTime [Term] id: EFO:0020030 name: tubulinopathy def: "A congenital nervous system abnormality characterized by complex cortical malformations including in most cases dysmorphic basal ganglia that has_material_basis_in mutation in one or more of the tubulin genes." [] xref: DOID:0112227 xref: Medgen:CN850169 xref: PMID:24860126 xref: PMID:31386652 is_a: MONDO:0002320 ! congenital nervous system disorder property_value: dc-creator "zmp" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2021-10-28T08:07:01Z xsd:dateTime [Term] id: EFO:0020031 name: mononeuropathy of the median nerve def: "Disease or trauma involving the median nerve in isolation, or out of proportion to evidence of diffuse median nerve dysfunction." [] xref: Medgen:C3150597 is_a: EFO:0009558 ! mononeuropathy property_value: dc-creator "zmp" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2021-10-28T08:34:57Z xsd:dateTime [Term] id: EFO:0020032 name: autosomal recessive transient neonatal diabetes mellitus def: "Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients." [] xref: Medgen:CN239376 is_a: EFO:0020040 ! transient neonatal diabetes, dominant/recessive property_value: dc-creator "zmp" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2021-10-28T08:49:04Z xsd:dateTime [Term] id: EFO:0020033 name: autosomal recessive congenital stationary night blindness xref: Medgen:CN239273 is_a: Orphanet:98662 ! Unclassified familial retinal dystrophy property_value: dc-creator "zmp" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2021-10-28T09:59:18Z xsd:dateTime [Term] id: EFO:0020034 name: familial Behcet-like autoinflammatory syndrome def: "A primary immunodeficiency disease that is characterized by characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas and that has_material_basis_in heterozygous mutation in the TNFAIP3 gene on chromosome 6q23." [] xref: DOID:0080944 xref: OMIM:616744 xref: OMIMPS:616744 is_a: MONDO:0003778 ! inborn error of immunity property_value: dc-creator "zmp" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2021-10-28T10:02:05Z xsd:dateTime [Term] id: EFO:0020035 name: autosomal dominant common variable immunodeficiency def: "Common variable immunodeficiency (CVID), autosomal dominant, comprises a disease characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria." [] xref: Medgen:CN239265 is_a: MONDO:0003778 ! inborn error of immunity is_a: Orphanet:140162 ! Inherited cancer-predisposing syndrome property_value: dc-creator "zmp" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2021-10-28T10:22:26Z xsd:dateTime [Term] id: EFO:0020036 name: autosomal recessive nemaline myopathy xref: Medgen:CN239479 is_a: Orphanet:206634 ! Genetic skeletal muscle disease property_value: dc-creator "zmp" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2021-10-28T10:24:58Z xsd:dateTime [Term] id: EFO:0020037 name: autosominal recessive combined pituitary hormone deficiency xref: Medgen:CN239344 is_a: Orphanet:95494 ! Combined pituitary hormone deficiencies, genetic forms property_value: dc-creator "zmp" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2021-10-28T10:43:24Z xsd:dateTime [Term] id: EFO:0020038 name: megacystis-microcolon-intestinal hypoperistalsis syndrome 5 def: "Megacystis-microcolon-intestinal hypoperistalsis syndrome-5 (MMIHS5) is a form of visceral myopathy characterized by significant inter- and intrafamilial variability, with the most severely affected patients exhibiting prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (Wangler et al., 2014)." [] xref: OMIM:619431 is_a: MONDO:0025986 ! megacystis-microcolon-intestinal hypoperistalsis syndrome property_value: dc-creator "zmp" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2021-10-28T10:44:52Z xsd:dateTime [Term] id: EFO:0020039 name: neuronal ceroid-lipofuscinosis, dominant/recessive def: "Neuronal ceroid lipofuscinoses (NCLs) are a group of dominant/recessive inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." [] xref: Medgen:CN239251 is_a: Orphanet:183500 ! Genetic neurodegenerative disease is_a: Orphanet:68366 ! Lysosomal disease is_a: Orphanet:98666 ! Unclassified primitive or secondary maculopathy is_a: Orphanet:98713 ! Metabolic disease with pigmentary retinitis property_value: dc-creator "zmp" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2021-11-02T13:26:06Z xsd:dateTime [Term] id: EFO:0020040 name: transient neonatal diabetes, dominant/recessive def: "Hereditary transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous dominant/recessive form of neonatal diabetes (NDM) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients." [] xref: Medgen:CN239353 is_a: EFO:0010238 ! perinatal disease is_a: Orphanet:183625 ! Rare genetic diabetes mellitus property_value: dc-creator "zmp" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2021-11-02T13:27:26Z xsd:dateTime [Term] id: EFO:0020041 name: congenital myasthenic syndrome, dominant/recessive def: "Congenital myasthenic syndrome (CMS) is a group of genetic dominant/recessive inherited disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness." [] xref: Medgen:CN239246 is_a: Orphanet:590 ! Congenital myasthenic syndromes property_value: dc-creator "zmp" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2021-11-02T13:29:11Z xsd:dateTime [Term] id: EFO:0020042 name: jasmonic acid measurement def: "The determination of the amount of jasmonic acid present in a sample, typically blood " [] xref: PMID:34503513 is_a: EFO:0005110 ! fatty acid measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 CHEBI:18292 ! is_about jasmonic acid property_value: http://www.ebi.ac.uk/efo/creator "Annalisa Buniello" xsd:string [Term] id: EFO:0020043 name: octadecanoids measurement def: "The determination of the amount of octadecanoids present in a sample, typically blood " [] xref: PMID:34503513 is_a: EFO:0005111 ! folic acid measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Annalisa Buniello" xsd:string [Term] id: EFO:0020044 name: ecosanoids measurement def: "The determination of the amount of eicosanoids present in a sample, typically blood " [] xref: PMID:34503513 is_a: EFO:0005112 ! gestational age property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Annalisa Buniello" xsd:string [Term] id: EFO:0020045 name: prostaglandins measurement def: "The determination of the amount of prostaglandins present in a sample, typically blood " [] xref: PMID:34503513 is_a: EFO:0020044 ! ecosanoids measurement [Term] id: EFO:0020046 name: phosphatidylcholine 18:1 measurement def: "The quantification of phosphatidylcholine 18:1 levels in a sample, typically blood " [] xref: PMID:34503513 is_a: EFO:0010226 ! phosphatidylcholine measurement property_value: http://www.ebi.ac.uk/efo/creator "Annalisa Buniello" xsd:string [Term] id: EFO:0020047 name: phosphatidate measurement def: "The quantification of phosphatidate levels in a sample, typically blood " [] xref: PMID:34503513 is_a: EFO:0007630 ! glycerophospholipid measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Annalisa Buniello" xsd:string [Term] id: EFO:0020048 name: lysophosphatidylserine measurement def: "The quantification of lysophosphatidylserine levels in a sample, typically blood " [] xref: PMID:34503513 is_a: EFO:0007631 ! hexose measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Annalisa Buniello" xsd:string [Term] id: EFO:0020049 name: phosphatidylserines measurement def: "The quantification of phosphatidylserines levels in a sample, typically blood " [] xref: PMID:34503513 is_a: EFO:0007630 ! glycerophospholipid measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Annalisa Buniello" xsd:string [Term] id: EFO:0020050 name: bile acid measurement def: "The quantification of diacylglycerol 30:1 levels in a sample, typically blood " [] xref: PMID:34503513 is_a: EFO:0010231 ! sterol measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 UBERON:0001970 ! is_about bile property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Annalisa Buniello" xsd:string [Term] id: EFO:0020051 name: diacylglycerol 30:1 measurement def: "The quantification of diacylglycerol 30:0 levels in a sample, typically blood " [] xref: PMID:34503513 is_a: EFO:0010223 ! diglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Annalisa Buniello" xsd:string [Term] id: EFO:0020052 name: diacylglycerol 30:0 measurement def: "The quantification of diacylglycerol 30:1 levels in a sample, typically blood " [] xref: PMID:34503513 is_a: EFO:0010223 ! diglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Annalisa Buniello" xsd:string [Term] id: EFO:0020053 name: diacylglycerol 28:0 measurement def: "The quantification of diacylglycerol 28:0 levels in a sample, typically blood " [] xref: PMID:34503513 is_a: EFO:0010223 ! diglyceride measurement property_value: http://www.ebi.ac.uk/efo/creator "Annalisa Buniello" xsd:string [Term] id: EFO:0020054 name: diacylglycerol 32:0 measurement def: "The quantification of diacylglycerol 32:0 levels in a sample, typically blood " [] xref: PMID:34503513 is_a: EFO:0010223 ! diglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Annalisa Buniello" xsd:string [Term] id: EFO:0020055 name: diacylglycerol 32.2 measurement def: "The quantification of diacylglycerol 32:2 levels in a sample, typically blood " [] xref: PMID:34503513 is_a: EFO:0010223 ! diglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Annalisa Buniello" xsd:string [Term] id: EFO:0020056 name: diacylglycerol 33:1 measurement def: "The quantification of diacylglycerol 33:1 levels in a sample, typically blood " [] xref: PMID:34503513 is_a: EFO:0010223 ! diglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Annalisa Buniello" xsd:string [Term] id: EFO:0020057 name: diacylglycerol 33:3 measurement def: "The quantification of diacylglycerol 33:3 levels in a sample, typically blood " [] xref: PMID:34503513 is_a: EFO:0010223 ! diglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Annalisa Buniello" xsd:string [Term] id: EFO:0020058 name: diacylglycerol 34:0 measurement def: "The quantification of diacylglycerol 34:0 levels in a sample, typically blood " [] xref: PMID:34503513 is_a: EFO:0010223 ! diglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Annalisa Buniello" xsd:string [Term] id: EFO:0020059 name: diacylglycerol 34:3 measurement def: "The quantification of diacylglycerol 34:3 levels in a sample, typically blood " [] xref: PMID:34503513 is_a: EFO:0010223 ! diglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Annalisa Buniello" xsd:string [Term] id: EFO:0020060 name: obsolete_diacylglycerol 36:1 measurement def: "The quantification of diacylglycerol 36:1 levels in a sample, typically blood " [] xref: PMID:34503513 property_value: http://www.ebi.ac.uk/efo/creator "Annalisa Buniello" xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.44.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate term, use http://www.ebi.ac.uk/efo/EFO_0010354." xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0010354 [Term] id: EFO:0020061 name: obsolete_diacylglycerol 36:2 measurement def: "The quantification of diacylglycerol 36:2 levels in a sample, typically blood " [] xref: PMID:34503513 property_value: http://www.ebi.ac.uk/efo/creator "Annalisa Buniello" xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.44.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate term, use http://www.ebi.ac.uk/efo/EFO_0010355." xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0010355 [Term] id: EFO:0020062 name: diacylglycerol 36:3 measurement def: "The quantification of diacylglycerol 36:3 levels in a sample, typically blood " [] xref: PMID:34503513 is_a: EFO:0010223 ! diglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Annalisa Buniello" xsd:string [Term] id: EFO:0020063 name: diacylglycerol 36:4 measurement def: "The quantification of diacylglycerol 36:4 levels in a sample, typically blood " [] xref: PMID:34503513 is_a: EFO:0010223 ! diglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Annalisa Buniello" xsd:string [Term] id: EFO:0020064 name: diacylglycerol 36:5 measurement def: "The quantification of diacylglycerol 36:5 levels in a sample, typically blood " [] xref: PMID:34503513 is_a: EFO:0010223 ! diglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Annalisa Buniello" xsd:string [Term] id: EFO:0020065 name: diacylglycerol 38:3 measurement def: "The quantification of diacylglycerol 38:3 levels in a sample, typically blood " [] xref: PMID:34503513 is_a: EFO:0010223 ! diglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Annalisa Buniello" xsd:string [Term] id: EFO:0020066 name: diacylglycerol 38:4 measurement def: "The quantification of diacylglycerol 38:4 levels in a sample, typically blood " [] xref: PMID:34503513 is_a: EFO:0010223 ! diglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Annalisa Buniello" xsd:string [Term] id: EFO:0020067 name: diacylglycerol 38:5 measurement def: "The quantification of diacylglycerol 38:5 levels in a sample, typically blood " [] xref: PMID:34503513 is_a: EFO:0010223 ! diglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Annalisa Buniello" xsd:string [Term] id: EFO:0020068 name: diacylglycerol 42:7 measurement def: "The quantification of diacylglycerol 42:7 levels in a sample, typically blood " [] xref: PMID:34503513 is_a: EFO:0010223 ! diglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Annalisa Buniello" xsd:string [Term] id: EFO:0020069 name: diacylglycerol 44:7 measurement def: "The quantification of diacylglycerol 44:7 levels in a sample, typically blood " [] xref: PMID:34503513 is_a: EFO:0010223 ! diglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Annalisa Buniello" xsd:string [Term] id: EFO:0020070 name: diacylglycerol 44:6 measurement def: "The quantification of diacylglycerol 44:6 levels in a sample, typically blood " [] xref: PMID:34503513 is_a: EFO:0010223 ! diglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Annalisa Buniello" xsd:string [Term] id: EFO:0020071 name: alpha angle measurement def: "A measure of femoral head sphericity." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36662418"} is_a: EFO:0004302 ! anthropometric measurement is_a: EFO:0005890 ! osteoarthritis biomarker measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-03-14T15:22:48Z xsd:dateTime [Term] id: EFO:0020072 name: soluble CD163 measurement def: "Quantification of the circulating pattern recognition receptor CD163 in a sample such as blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36314488"} synonym: "sCD163 measurement" EXACT [] synonym: "soluble cluster of differentiation 163 measurement" EXACT [] xref: https://www.uniprot.org/uniprotkb/Q86VB7/entry is_a: EFO:0007937 ! blood protein measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-03-14T15:47:02Z xsd:dateTime [Term] id: EFO:0020073 name: high-level copy number loss def: "Assessment of high-level copy loss. High-level loss is associated with a large negative log ratio between the ploidy at an indicated position and regional base ploidy. High-level loss is typically indicative of focal deletions. This term should be preferred in contrast to complete genomic deletion when a complete loss of all alleles at an indicated position cannot be reasonably assessed." [] {http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/my-orcid?orcid=0000-0002-2502-8961"} synonym: "focal loss" EXACT [] synonym: "high-level loss" EXACT [] is_a: EFO:0030067 ! copy number loss property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2023-03-22T10:55:49Z xsd:dateTime [Term] id: EFO:0020074 name: urine protein measurement def: "A measurement of the amount of protein in a urine sample." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36777999"} is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020075 name: urine glucose measurement def: "A measurement of the amount of glucose in a urine sample." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36777999"} is_a: EFO:0004468 ! glucose measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020076 name: urine blood measurement def: "A measurement of the amount of blood in a urine sample." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36777999"} is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020077 name: dietary vitamin A intake measurement def: "Quantification of dietary vitamin A intake." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36777999"} is_a: EFO:0008111 ! diet measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020078 name: dietary vitamin B1 intake measurement def: "Quantification of dietary vitamin B1 intake." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36777999"} is_a: EFO:0008111 ! diet measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020079 name: dietary vitamin B2 intake measurement def: "Quantification of dietary vitamin B1 intake." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36777999"} is_a: EFO:0008111 ! diet measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020080 name: dietary sodium intake measurement def: "Quantification of dietary sodium intake." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36777999"} is_a: EFO:0008111 ! diet measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020081 name: dietary niacin intake measurement def: "Quantification of dietary niacin intake." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36777999"} is_a: EFO:0008111 ! diet measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020082 name: dietary vitamin C intake measurement def: "Quantification of dietary vitamin C intake." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36777999"} is_a: EFO:0008111 ! diet measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020083 name: dietary zinc intake measurement def: "Quantification of dietary zinc intake." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36777999"} is_a: EFO:0008111 ! diet measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020084 name: dietary vitamin B6 intake measurement def: "Quantification of dietary vitamin B6 intake." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36777999"} is_a: EFO:0008111 ! diet measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020085 name: dietary retinol intake measurement def: "Quantification of dietary retinol intake." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36777999"} is_a: EFO:0008111 ! diet measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020086 name: dietary carotene intake measurement def: "Quantification of dietary carotene intake." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36777999"} is_a: EFO:0008111 ! diet measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020087 name: dietary ash intake measurement def: "Quantification of dietary ash intake." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36777999"} is_a: EFO:0008111 ! diet measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020088 name: dietary fiber intake measurement def: "Quantification of dietary fiber intake." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36777999"} is_a: EFO:0008111 ! diet measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020089 name: dietary vitamin E intake measurement def: "Quantification of dietary vitamin E intake." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36777999"} is_a: EFO:0008111 ! diet measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020090 name: dietary cholesterol intake measurement def: "Quantification of dietary cholesterol intake." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36777999"} is_a: EFO:0008111 ! diet measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020091 name: dietary phosphorus intake measurement def: "Quantification of dietary phosphorus intake." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36777999"} is_a: EFO:0008111 ! diet measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020092 name: neuroinflammatory disorder def: "A group of immune-mediated disorders of the central nervous system (brain, spinal cord and optic nerves). Multiple Sclerosis (MS) is the best-known neuroinflammatory disease. Alzheimer’s disease (AD), Parkinson’s disease (PD), and other neurodegenerative diseases are all related to neuroinflammation." [] def: "A hypersensitivity reaction type II disease that involves the central nervous system." [MONDO:patterns/location] synonym: "autoimmune disorder of central nervous system" EXACT [] {comment="preferred label from MONDO"} synonym: "central nervous system autoimmune disease" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "central nervous system hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location] synonym: "neuroinflammatory disease" EXACT [] xref: DOID:0060004 {source="MONDO:equivalentTo"} xref: MONDO:0000568 is_a: EFO:0009386 {source="DOID:0060004", source="MONDO:Redundant"} ! central nervous system disease is_a: MONDO:0002977 {source="DOID:0060004", source="MONDO:Redundant"} ! autoimmune disorder of the nervous system property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: exactMatch DOID:0060004 property_value: http://purl.org/dc/elements/1.1/date 2023-03-30T12:37:48Z xsd:dateTime [Term] id: EFO:0020093 name: C57BL/6NTac def: "C57BL/6NTac inbred strain of Mus musculus." [] {http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-6388-0901"} xref: MGI:2164831 is_a: EFO:0005181 ! C57BL property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2023-03-31T07:59:40Z xsd:dateTime [Term] id: EFO:0020094 name: Lambert-Eaton myasthenic syndrome def: "Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC)." [] synonym: "LEMS" EXACT [] xref: ICD10:G73.1 xref: ICD11:8C62 xref: MedDRA:10067685 xref: MeSH:D015624 xref: Orphanet:43393 xref: UMLS:C0022972 is_a: MONDO:0018215 ! paraneoplastic neurologic syndrome is_a: MONDO:0018743 ! immune-mediated acquired neuromuscular junction disease property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2023-03-31T12:58:08Z xsd:dateTime [Term] id: EFO:0020095 name: trochanter bone mineral density def: "The mineral density of femoral trochanter." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36228083"} is_a: EFO:0007702 ! hip bone mineral density property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-04-14T10:31:20Z xsd:dateTime [Term] id: EFO:0020096 name: mitral valve annular diameter def: "Measurement of the diameter of the mitral valve annulus." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:35132965"} is_a: EFO:0004298 ! cardiovascular measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-04-14T10:53:35Z xsd:dateTime [Term] id: EFO:0020097 name: QRS-T angle def: "An electrocardiogram‐derived measure of the difference in mean vectors of depolarization and repolarization." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36918541"} is_a: EFO:0004327 ! electrocardiography property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-04-14T11:41:27Z xsd:dateTime [Term] id: EFO:0020098 name: abdominal fat ratio def: "Quantification of abdominal fat ratio." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36402844"} is_a: EFO:0007861 ! body ratio measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-04-14T12:00:57Z xsd:dateTime [Term] id: EFO:0020099 name: weight-to-muscle ratio def: "Quantification of weight to muscle ratio." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36402844"} is_a: EFO:0007861 ! body ratio measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-04-14T12:01:34Z xsd:dateTime [Term] id: EFO:0020100 name: thigh muscle measurement def: "Quantification of some aspect of the thigh muscle." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36402844"} is_a: EFO:0004515 ! muscle measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2023-04-14T12:02:18Z xsd:dateTime [Term] id: EFO:0020101 name: parenchymal hematoma def: "A severe presentation of intracerebral bleeding." [] xref: PMID:33723576 is_a: EFO:0005669 ! intracerebral hemorrhage property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-01-06T10:29:49Z xsd:dateTime [Term] id: EFO:0020102 name: circulating alpha-Klotho measurement def: "Quantification of circulating alpha-Klotho in a sample." [] xref: PMID:34542150 is_a: EFO:0007937 ! blood protein measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-01-06T11:00:15Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0020103 name: childhood gender nonconformity def: "Childhood gender nonconformity (CGN) is a phenomenon in which prepubescent children do not conform to expected gender-related sociological or psychological patterns, or identify with the opposite sex/gender" [] synonym: "CGN" EXACT [] synonym: "childhood gender identity disorder" EXACT [] synonym: "gender identidy disorder of childhood" EXACT [] xref: PMID:34518958 xref: SNOMEDCT:5095008 is_a: EFO:0008587 ! gender identity disorder property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-01-06T12:33:04Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020104 name: pelvis bone mineral density def: "Mineral density of the pelvis bone." [] xref: PMID:33430342 is_a: EFO:0003923 ! bone density property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-01-14T10:00:47Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0020105 name: trunk bone mineral density def: "Mineral density of the trunk." [] xref: PMID:33430342 is_a: EFO:0003923 ! bone density property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-01-14T10:02:24Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0020106 name: cytomegalovirus virus reactivation def: "The switching of latent cytomegalovirus to a lytic infection." [] xref: NCIT:C160246 xref: PMID:34269803 is_a: EFO:0001062 ! cytomegalovirus infection is_a: MONDO:0100330 ! disease arising from reactivation of latent virus property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-01-14T10:04:29Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020107 name: thigh muscle volume def: "Quantification of some aspect of thigh muscle volume." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36402844"} is_a: EFO:0020100 ! thigh muscle measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-04-14T12:02:47Z xsd:dateTime [Term] id: EFO:0020108 name: 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 measurement def: "The determination of the amount of 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020109 name: 14-3-3 protein family measurement def: "The determination of the amount of 14-3-3 protein family in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020110 name: 14-3-3 protein sigma measurement def: "The determination of the amount of 14-3-3 protein sigma in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020111 name: 15-hydroxyprostaglandin dehydrogenase [NAD(+)] measurement def: "The determination of the amount of 15-hydroxyprostaglandin dehydrogenase [NAD(+)] in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020112 name: 26s proteasome non-atpase regulatory subunit 7 measurement def: "The determination of the amount of 26s proteasome non-atpase regulatory subunit 7 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020113 name: 3-hydroxy-3-methylglutaryl-coenzymeAreductase measurement def: "The determination of the amount of 3-hydroxy-3-methylglutaryl-coenzymeAreductase in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020114 name: 3-hydroxyacyl-coa dehydrogenase type-2 measurement def: "The determination of the amount of 3-hydroxyacyl-coa dehydrogenase type-2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020115 name: 3-hydroxyisobutyrate dehydrogenase, mitochondrial measurement def: "The determination of the amount of 3-hydroxyisobutyrate dehydrogenase, mitochondrial in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020116 name: 3-phosphoinositide-dependent protein kinase 1 measurement def: "The determination of the amount of 3-phosphoinositide-dependent protein kinase 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020117 name: 40s ribosomal protein S3 measurement def: "The determination of the amount of 40s ribosomal protein S3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020118 name: 40s ribosomal protein S7 measurement def: "The determination of the amount of 40s ribosomal protein S7 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020119 name: 40s ribosomal protein SA measurement def: "The determination of the amount of 40s ribosomal protein SA in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020120 name: 6-phosphogluconate dehydrogenase, decarboxylating measurement def: "The determination of the amount of 6-phosphogluconate dehydrogenase, decarboxylating in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020121 name: 60 kda heat shock protein, mitochondrial measurement def: "The determination of the amount of 60 kda heat shock protein, mitochondrial in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020122 name: 72 kda type IV collagenase measurement def: "The determination of the amount of 72 kda type IV collagenase in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020123 name: a disintegrin and metalloproteinase with thrombospondin motifs 15 measurement def: "The determination of the amount of a disintegrin and metalloproteinase with thrombospondin motifs 15 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020124 name: a disintegrin and metalloproteinase with thrombospondin motifs 4 measurement def: "The determination of the amount of a disintegrin and metalloproteinase with thrombospondin motifs 4 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020125 name: acidic leucine-rich nuclear phosphoprotein 32 family member b measurement def: "The determination of the amount of acidic leucine-rich nuclear phosphoprotein 32 family member b in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020126 name: activated protein C measurement def: "The determination of the amount of activated protein C in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020127 name: activin receptor type-1B measurement def: "The determination of the amount of activin receptor type-1B in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020128 name: adapter molecule CRK measurement def: "The determination of the amount of adapter molecule CRK in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020129 name: adenylate kinase isoenzyme 1 measurement def: "The determination of the amount of adenylate kinase isoenzyme 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020130 name: adenylosuccinate lyase measurement def: "The determination of the amount of adenylosuccinate lyase in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020131 name: advanced glycosylation end product-specific receptor, soluble measurement def: "The determination of the amount of advanced glycosylation end product-specific receptor, soluble in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020132 name: aflatoxin B1 aldehyde reductase member 2 measurement def: "The determination of the amount of aflatoxin B1 aldehyde reductase member 2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020133 name: aggrecan core protein measurement def: "The determination of the amount of aggrecan core protein in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020134 name: AH receptor-interacting protein measurement def: "The determination of the amount of AH receptor-interacting protein in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020135 name: allograft inflammatory factor 1 measurement def: "The determination of the amount of allograft inflammatory factor 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020136 name: alpha-(1,3)-fucosyltransferase 5 measurement def: "The determination of the amount of alpha-(1,3)-fucosyltransferase 5 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020137 name: alpha-2-antiplasmin measurement def: "The determination of the amount of alpha-2-antiplasmin in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020138 name: alpha-2-macroglobulin measurement def: "The determination of the amount of alpha-2-macroglobulin in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020139 name: alpha-L-iduronidase measurement def: "The determination of the amount of alpha-L-iduronidase in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020140 name: alpha-soluble NSF attachment protein measurement def: "The determination of the amount of alpha-soluble NSF attachment protein in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020141 name: aminoacylase-1 measurement def: "The determination of the amount of aminoacylase-1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020142 name: amp kinase (alpha1beta1gamma1) measurement def: "The determination of the amount of amp kinase (alpha1beta1gamma1) in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020143 name: amp kinase (alpha2beta2gamma1) measurement def: "The determination of the amount of amp kinase (alpha2beta2gamma1) in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020144 name: amphiregulin measurement def: "The determination of the amount of amphiregulin in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020145 name: amyloid beta A4 protein measurement def: "The determination of the amount of amyloid beta A4 protein in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020146 name: angiopoietin-1 measurement def: "The determination of the amount of angiopoietin-1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020147 name: angiopoietin-4 measurement def: "The determination of the amount of angiopoietin-4 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020148 name: angiopoietin-related protein 3 measurement def: "The determination of the amount of angiopoietin-related protein 3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020149 name: angiopoietin-related protein 4 measurement def: "The determination of the amount of angiopoietin-related protein 4 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020150 name: angiotensin-converting enzyme 2 measurement def: "The determination of the amount of angiotensin-converting enzyme 2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020151 name: annexin A6 measurement def: "The determination of the amount of annexin A6 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020152 name: anterior gradient protein 2 homolog measurement def: "The determination of the amount of anterior gradient protein 2 homolog in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020153 name: anti-muellerian hormone type-2 receptor measurement def: "The determination of the amount of anti-muellerian hormone type-2 receptor in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020154 name: antileukoproteinase measurement def: "The determination of the amount of antileukoproteinase in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020155 name: antithrombin-III measurement def: "The determination of the amount of antithrombin-III in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020156 name: apolipoprotein D measurement def: "The determination of the amount of apolipoprotein D in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020157 name: apolipoprotein E (isoform E3) measurement def: "The determination of the amount of apolipoprotein E (isoform E3) in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020158 name: apolipoprotein E (isoform E4) measurement def: "The determination of the amount of apolipoprotein E (isoform E4) in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020159 name: apoptosis regulator BCL-2 measurement def: "The determination of the amount of apoptosis regulator BCL-2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020160 name: arginase-1 measurement def: "The determination of the amount of arginase-1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020161 name: aromatic-l-amino-acid decarboxylase measurement def: "The determination of the amount of aromatic-l-amino-acid decarboxylase in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020162 name: artemin measurement def: "The determination of the amount of artemin in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020163 name: arylsulfatase A measurement def: "The determination of the amount of arylsulfatase A in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020164 name: asialoglycoprotein receptor 1 measurement def: "The determination of the amount of asialoglycoprotein receptor 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020165 name: AT-rich interactive domain-containing protein 3A measurement def: "The determination of the amount of AT-rich interactive domain-containing protein 3A in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020166 name: ATP synthase subunit beta, mitochondrial measurement def: "The determination of the amount of ATP synthase subunit beta, mitochondrial in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020167 name: ATP-dependent rna helicase ddx19b measurement def: "The determination of the amount of ATP-dependent rna helicase ddx19b in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020168 name: aurora kinase A measurement def: "The determination of the amount of aurora kinase A in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020169 name: aurora kinase B measurement def: "The determination of the amount of aurora kinase B in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020170 name: azurocidin measurement def: "The determination of the amount of azurocidin in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020171 name: B-cell receptor CD22 measurement def: "The determination of the amount of B-cell receptor CD22 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020172 name: bactericidal permeability-increasing protein measurement def: "The determination of the amount of bactericidal permeability-increasing protein in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020173 name: baculoviral IAP repeat-containing protein 3 measurement def: "The determination of the amount of baculoviral IAP repeat-containing protein 3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020174 name: baculoviral IAP repeat-containing protein 5 measurement def: "The determination of the amount of baculoviral IAP repeat-containing protein 5 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020175 name: baculoviral IAP repeat-containing protein 7 isoform beta measurement def: "The determination of the amount of baculoviral IAP repeat-containing protein 7 isoform beta in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020176 name: basigin measurement def: "The determination of the amount of basigin in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020177 name: BCL-2-like protein 1 measurement def: "The determination of the amount of BCL-2-like protein 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020178 name: BCL-2-related protein A1 measurement def: "The determination of the amount of BCL-2-related protein A1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020179 name: bdnf/nt-3 growth factors receptor measurement def: "The determination of the amount of bdnf/nt-3 growth factors receptor in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020180 name: beta-2-microglobulin measurement def: "The determination of the amount of beta-2-microglobulin in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020181 name: beta-adrenergic receptor kinase 1 measurement def: "The determination of the amount of beta-adrenergic receptor kinase 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020182 name: biglycan measurement def: "The determination of the amount of biglycan in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020183 name: BMP-binding endothelial regulator protein measurement def: "The determination of the amount of BMP-binding endothelial regulator protein in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020184 name: bone morphogenetic protein 1 measurement def: "The determination of the amount of bone morphogenetic protein 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020185 name: bone morphogenetic protein 10 measurement def: "The determination of the amount of bone morphogenetic protein 10 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020186 name: bone morphogenetic protein 6 measurement def: "The determination of the amount of bone morphogenetic protein 6 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020187 name: bone morphogenetic protein 7 measurement def: "The determination of the amount of bone morphogenetic protein 7 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020188 name: bone morphogenetic protein receptor type-1a measurement def: "The determination of the amount of bone morphogenetic protein receptor type-1a in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020189 name: bone morphogenetic protein receptor type-2 measurement def: "The determination of the amount of bone morphogenetic protein receptor type-2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020190 name: bone sialoprotein 2 measurement def: "The determination of the amount of bone sialoprotein 2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020191 name: brain natriuretic peptide 32 measurement def: "The determination of the amount of brain natriuretic peptide 32 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020192 name: brain-specific serine protease 4 measurement def: "The determination of the amount of brain-specific serine protease 4 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020193 name: brevican core protein measurement def: "The determination of the amount of brevican core protein in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020194 name: brother of CDO measurement def: "The determination of the amount of brother of CDO in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020195 name: C-C motif chemokine 13 measurement def: "The determination of the amount of C-C motif chemokine 13 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020196 name: C-C motif chemokine 22 measurement def: "The determination of the amount of C-C motif chemokine 22 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020197 name: C-C motif chemokine 24 measurement def: "The determination of the amount of C-C motif chemokine 24 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020198 name: C-C motif chemokine 27 measurement def: "The determination of the amount of C-C motif chemokine 27 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020199 name: C-C motif chemokine 28 measurement def: "The determination of the amount of C-C motif chemokine 28 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020200 name: C-type lectin domain family 1 member B measurement def: "The determination of the amount of C-type lectin domain family 1 member B in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020201 name: C-type lectin domain family 4 member K measurement def: "The determination of the amount of C-type lectin domain family 4 member K in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020202 name: C-type lectin domain family 4 member M measurement def: "The determination of the amount of C-type lectin domain family 4 member M in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020203 name: C-type lectin domain family 7 memberAmeasurement def: "The determination of the amount of C-type lectin domain family 7 memberA in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020204 name: C-type mannose receptor 2 measurement def: "The determination of the amount of C-type mannose receptor 2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020205 name: C-X-C motif chemokine 13 measurement def: "The determination of the amount of C-X-C motif chemokine 13 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020206 name: C3a anaphylatoxin des arginine measurement def: "The determination of the amount of C3a anaphylatoxin des arginine in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020207 name: C3a anaphylatoxin measurement def: "The determination of the amount of C3a anaphylatoxin in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020208 name: C5a anaphylatoxin measurement def: "The determination of the amount of C5a anaphylatoxin in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020209 name: cadherin-1 measurement def: "The determination of the amount of cadherin-1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020210 name: cadherin-12 measurement def: "The determination of the amount of cadherin-12 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020211 name: cadherin-15 measurement def: "The determination of the amount of cadherin-15 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020212 name: cadherin-2 measurement def: "The determination of the amount of cadherin-2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020213 name: cadherin-3 measurement def: "The determination of the amount of cadherin-3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020214 name: cadherin-6 measurement def: "The determination of the amount of cadherin-6 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020215 name: calcineurin subunit B type 1 measurement def: "The determination of the amount of calcineurin subunit B type 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020216 name: calcium-dependent phospholipase A2 measurement def: "The determination of the amount of calcium-dependent phospholipase A2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020217 name: calcium/calmodulin-dependent protein kinase kinase 1 measurement def: "The determination of the amount of calcium/calmodulin-dependent protein kinase kinase 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020218 name: calcium/calmodulin-dependent protein kinase type II subunit alpha measurement def: "The determination of the amount of calcium/calmodulin-dependent protein kinase type II subunit alpha in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020219 name: calcium/calmodulin-dependent protein kinase type II subunit beta measurement def: "The determination of the amount of calcium/calmodulin-dependent protein kinase type II subunit beta in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020220 name: calcium/calmodulin-dependent protein kinase type II subunit delta measurement def: "The determination of the amount of calcium/calmodulin-dependent protein kinase type II subunit delta in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020221 name: calreticulin measurement def: "The determination of the amount of calreticulin in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020222 name: cAMP-dependent protein kinase catalytic subunit alpha measurement def: "The determination of the amount of cAMP-dependent protein kinase catalytic subunit alpha in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020223 name: cAMP-regulated phosphoprotein 19 measurement def: "The determination of the amount of cAMP-regulated phosphoprotein 19 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020224 name: cAMP-specific 3',5'-cyclic phosphodiesterase 4D measurement def: "The determination of the amount of cAMP-specific 3',5'-cyclic phosphodiesterase 4D in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020225 name: carbohydrate sulfotransferase 2 measurement def: "The determination of the amount of carbohydrate sulfotransferase 2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020226 name: carbohydrate sulfotransferase 6 measurement def: "The determination of the amount of carbohydrate sulfotransferase 6 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020227 name: carbonic anhydrase 1 measurement def: "The determination of the amount of carbonic anhydrase 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020228 name: carbonic anhydrase 2 measurement def: "The determination of the amount of carbonic anhydrase 2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020229 name: carbonic anhydrase 3 measurement def: "The determination of the amount of carbonic anhydrase 3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020230 name: carbonic anhydrase 4 measurement def: "The determination of the amount of carbonic anhydrase 4 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020231 name: carbonic anhydrase 7 measurement def: "The determination of the amount of carbonic anhydrase 7 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020232 name: carbonic anhydrase 9 measurement def: "The determination of the amount of carbonic anhydrase 9 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020233 name: carbonic anhydrase-related protein 10 measurement def: "The determination of the amount of carbonic anhydrase-related protein 10 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020234 name: carboxypeptidase e measurement def: "The determination of the amount of carboxypeptidase e in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020235 name: cardiotrophin-1 measurement def: "The determination of the amount of cardiotrophin-1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020236 name: casein kinase II 2-alpha:2-beta heterotetramer measurement def: "The determination of the amount of casein kinase II 2-alpha:2-beta heterotetramer in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020237 name: casein kinase II 2-alpha':2-beta heterotetramer measurement def: "The determination of the amount of casein kinase II 2-alpha':2-beta heterotetramer in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020238 name: casein kinase II subunit alpha measurement def: "The determination of the amount of casein kinase II subunit alpha in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020239 name: caspase-10 measurement def: "The determination of the amount of caspase-10 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020240 name: caspase-2 measurement def: "The determination of the amount of caspase-2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020241 name: cathepsin E measurement def: "The determination of the amount of cathepsin E in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020242 name: cathepsin G measurement def: "The determination of the amount of cathepsin G in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020243 name: cathepsin H measurement def: "The determination of the amount of cathepsin H in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020244 name: cathepsin L2 measurement def: "The determination of the amount of cathepsin L2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020245 name: CD166 antigen measurement def: "The determination of the amount of CD166 antigen in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020246 name: CD226 antigen measurement def: "The determination of the amount of CD226 antigen in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020247 name: CD48 antigen measurement def: "The determination of the amount of CD48 antigen in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020248 name: CD5 antigen-like measurement def: "The determination of the amount of CD5 antigen-like in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020249 name: CD70 antigen measurement def: "The determination of the amount of CD70 antigen in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020250 name: CD97 antigen measurement def: "The determination of the amount of CD97 antigen in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020251 name: cell adhesion molecule 1 measurement def: "The determination of the amount of cell adhesion molecule 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020252 name: cell adhesion molecule 3 measurement def: "The determination of the amount of cell adhesion molecule 3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020253 name: cell surface glycoprotein CD200 receptor 1 measurement def: "The determination of the amount of cell surface glycoprotein CD200 receptor 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020254 name: cerebral dopamine neurotrophic factor measurement def: "The determination of the amount of cerebral dopamine neurotrophic factor in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020255 name: cGMP-inhibited 3',5'-cyclic phosphodiesterase A measurement def: "The determination of the amount of cGMP-inhibited 3',5'-cyclic phosphodiesterase A in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020256 name: chloride intracellular channel protein 1 measurement def: "The determination of the amount of chloride intracellular channel protein 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020257 name: chordin-like protein 1 measurement def: "The determination of the amount of chordin-like protein 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020258 name: chromobox protein homolog 5 measurement def: "The determination of the amount of chromobox protein homolog 5 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020259 name: chymase measurement def: "The determination of the amount of chymase in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020260 name: ciliary neurotrophic factor measurement def: "The determination of the amount of ciliary neurotrophic factor in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020261 name: ciliary neurotrophic factor receptor subunit alpha measurement def: "The determination of the amount of ciliary neurotrophic factor receptor subunit alpha in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020262 name: coactosin-like protein measurement def: "The determination of the amount of coactosin-like protein in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020263 name: coagulation factor IX measurement def: "The determination of the amount of coagulation factor IX in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020264 name: coagulation factor IXAB measurement def: "The determination of the amount of coagulation factor IXAB in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020265 name: coagulation factor X measurement def: "The determination of the amount of coagulation factor X in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020266 name: coagulation factor XA measurement def: "The determination of the amount of coagulation factor XA in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020267 name: cofilin-1 measurement def: "The determination of the amount of cofilin-1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020268 name: coiled-coil domain-containing protein 80 measurement def: "The determination of the amount of coiled-coil domain-containing protein 80 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020269 name: collagen alpha-1(VIII) chain measurement def: "The determination of the amount of collagen alpha-1(VIII) chain in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020270 name: collagen alpha-1(XXIII) chain measurement def: "The determination of the amount of collagen alpha-1(XXIII) chain in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020271 name: collagenase 3 measurement def: "The determination of the amount of collagenase 3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020272 name: collectin-12 measurement def: "The determination of the amount of collectin-12 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020273 name: COMM domain-containing protein 7 measurement def: "The determination of the amount of COMM domain-containing protein 7 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020274 name: complement C2 measurement def: "The determination of the amount of complement C2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020275 name: complement C3B measurement def: "The determination of the amount of complement C3B in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020276 name: complement C3B, inactivated measurement def: "The determination of the amount of complement C3B, inactivated in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020277 name: complement C3D fragment measurement def: "The determination of the amount of complement C3D fragment in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020278 name: complement C5 measurement def: "The determination of the amount of complement C5 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020279 name: complement C5B-C6 complex measurement def: "The determination of the amount of complement C5B-C6 complex in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020280 name: complement component 1 q subcomponent-binding protein, mitochondrial measurement def: "The determination of the amount of complement component 1 q subcomponent-binding protein, mitochondrial in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020281 name: complement component C6 measurement def: "The determination of the amount of complement component C6 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020282 name: complement component C9 measurement def: "The determination of the amount of complement component C9 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020283 name: complement factor D measurement def: "The determination of the amount of complement factor D in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020284 name: connective tissue growth factor measurement def: "The determination of the amount of connective tissue growth factor in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020285 name: connective tissue-activating peptide III measurement def: "The determination of the amount of connective tissue-activating peptide III in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020286 name: contactin-1 measurement def: "The determination of the amount of contactin-1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020287 name: contactin-4 measurement def: "The determination of the amount of contactin-4 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020288 name: corticosteroid-binding globulin measurement def: "The determination of the amount of corticosteroid-binding globulin in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020289 name: corticotropin measurement def: "The determination of the amount of corticotropin in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020290 name: creatine kinase b-type measurement def: "The determination of the amount of creatine kinase b-type in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020291 name: creatine kinase m-type measurement def: "The determination of the amount of creatine kinase m-type in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020292 name: creatine kinase m-type:creatine kinase b-type heterodimer measurement def: "The determination of the amount of creatine kinase m-type:creatine kinase b-type heterodimer in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020293 name: cryptic protein measurement def: "The determination of the amount of cryptic protein in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020294 name: cyclin-dependent kinase 1:g2/mitotic-specific cyclin-B1 complex measurement def: "The determination of the amount of cyclin-dependent kinase 1:g2/mitotic-specific cyclin-B1 complex in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020295 name: cyclin-dependent kinase 2:cyclin-A2 complex measurement def: "The determination of the amount of cyclin-dependent kinase 2:cyclin-A2 complex in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020296 name: cyclin-dependent kinase 5:cyclin-dependent kinase 5 activator 1 complex measurement def: "The determination of the amount of cyclin-dependent kinase 5:cyclin-dependent kinase 5 activator 1 complex in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020297 name: cyclin-dependent kinase 8:cyclin-c complex measurement def: "The determination of the amount of cyclin-dependent kinase 8:cyclin-c complex in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020298 name: cyclin-dependent kinase inhibitor 1b measurement def: "The determination of the amount of cyclin-dependent kinase inhibitor 1b in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020299 name: cystatin-M measurement def: "The determination of the amount of cystatin-M in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020300 name: cystatin-S measurement def: "The determination of the amount of cystatin-S in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020301 name: cysteine-rich secretory protein 3 measurement def: "The determination of the amount of cysteine-rich secretory protein 3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020302 name: cytochrome C measurement def: "The determination of the amount of cytochrome C in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020303 name: cytochrome p450 3a4 measurement def: "The determination of the amount of cytochrome p450 3a4 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020304 name: cytokine receptor common subunit gamma measurement def: "The determination of the amount of cytokine receptor common subunit gamma in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020305 name: cytokine receptor-like factor 1:cardiotrophin-like cytokine factor 1 complex measurement def: "The determination of the amount of cytokine receptor-like factor 1:cardiotrophin-like cytokine factor 1 complex in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020306 name: cytokine receptor-like factor 2 measurement def: "The determination of the amount of cytokine receptor-like factor 2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020307 name: cytoplasmic protein NCK1 measurement def: "The determination of the amount of cytoplasmic protein NCK1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020308 name: cytoplasmic tyrosine-protein kinase BMX measurement def: "The determination of the amount of cytoplasmic tyrosine-protein kinase BMX in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020309 name: cytoskeleton-associated protein 2 measurement def: "The determination of the amount of cytoskeleton-associated protein 2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020310 name: cytosolic non-specific dipeptidase measurement def: "The determination of the amount of cytosolic non-specific dipeptidase in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020311 name: cytotoxic and regulatory t-cell molecule measurement def: "The determination of the amount of cytotoxic and regulatory t-cell molecule in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020312 name: cytotoxic t-lymphocyte protein 4 measurement def: "The determination of the amount of cytotoxic t-lymphocyte protein 4 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020313 name: d-dimer measurement def: "The determination of the amount of d-dimer in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020314 name: DCTP pyrophosphatase 1 measurement def: "The determination of the amount of DCTP pyrophosphatase 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020315 name: decorin measurement def: "The determination of the amount of decorin in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020316 name: delta-like protein 1 measurement def: "The determination of the amount of delta-like protein 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020317 name: delta-like protein 4 measurement def: "The determination of the amount of delta-like protein 4 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020318 name: dentin matrix acidic phosphoprotein 1 measurement def: "The determination of the amount of dentin matrix acidic phosphoprotein 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020319 name: desert hedgehog protein n-product measurement def: "The determination of the amount of desert hedgehog protein n-product in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020320 name: desmocollin-3 measurement def: "The determination of the amount of desmocollin-3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020321 name: desmoglein-1 measurement def: "The determination of the amount of desmoglein-1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020322 name: desmoglein-2 measurement def: "The determination of the amount of desmoglein-2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020323 name: diablo homolog, mitochondrial measurement def: "The determination of the amount of diablo homolog, mitochondrial in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020324 name: dickkopf-like protein 1 measurement def: "The determination of the amount of dickkopf-like protein 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020325 name: dipeptidyl peptidase 1 measurement def: "The determination of the amount of dipeptidyl peptidase 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020326 name: dipeptidyl peptidase 2 measurement def: "The determination of the amount of dipeptidyl peptidase 2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020327 name: discoidin domain-containing receptor 2 measurement def: "The determination of the amount of discoidin domain-containing receptor 2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020328 name: disintegrin and metalloproteinase domain-containing protein 12 measurement def: "The determination of the amount of disintegrin and metalloproteinase domain-containing protein 12 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020329 name: disintegrin and metalloproteinase domain-containing protein 9 measurement def: "The determination of the amount of disintegrin and metalloproteinase domain-containing protein 9 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020330 name: DNA repair protein rad51 homolog 1 measurement def: "The determination of the amount of DNA repair protein rad51 homolog 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020331 name: DNA topoisomerase 1 measurement def: "The determination of the amount of DNA topoisomerase 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020332 name: DNAj homolog subfamily b member 1 measurement def: "The determination of the amount of DNAj homolog subfamily b member 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020333 name: drebrin-like protein measurement def: "The determination of the amount of drebrin-like protein in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020334 name: dual 3',5'-cyclic-amp and -gmp phosphodiesterase 11a measurement def: "The determination of the amount of dual 3',5'-cyclic-amp and -gmp phosphodiesterase 11a in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020335 name: dual specificity mitogen-activated protein kinase kinase 1 measurement def: "The determination of the amount of dual specificity mitogen-activated protein kinase kinase 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020336 name: dual specificity protein phosphatase 3 measurement def: "The determination of the amount of dual specificity protein phosphatase 3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020337 name: dual specificity tyrosine-phosphorylation-regulated kinase 3 measurement def: "The determination of the amount of dual specificity tyrosine-phosphorylation-regulated kinase 3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020338 name: dynactin subunit 2 measurement def: "The determination of the amount of dynactin subunit 2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020339 name: dynein light chain 1, cytoplasmic measurement def: "The determination of the amount of dynein light chain 1, cytoplasmic in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020340 name: e3 ubiquitin-protein ligase mdm2 measurement def: "The determination of the amount of e3 ubiquitin-protein ligase mdm2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020341 name: ectodysplasin-a, secreted form measurement def: "The determination of the amount of ectodysplasin-a, secreted form in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020342 name: ectonucleoside triphosphate diphosphohydrolase 1 measurement def: "The determination of the amount of ectonucleoside triphosphate diphosphohydrolase 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020343 name: ectonucleoside triphosphate diphosphohydrolase 3 measurement def: "The determination of the amount of ectonucleoside triphosphate diphosphohydrolase 3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020344 name: ectonucleotide pyrophosphatase/phosphodiesterase family member 7 measurement def: "The determination of the amount of ectonucleotide pyrophosphatase/phosphodiesterase family member 7 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020345 name: elongation factor 1-beta measurement def: "The determination of the amount of elongation factor 1-beta in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020346 name: endoplasmic reticulum resident protein 29 measurement def: "The determination of the amount of endoplasmic reticulum resident protein 29 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020347 name: endostatin measurement def: "The determination of the amount of endostatin in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020348 name: endothelial monocyte-activating polypeptide 2 measurement def: "The determination of the amount of endothelial monocyte-activating polypeptide 2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020349 name: enteropeptidase measurement def: "The determination of the amount of enteropeptidase in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020350 name: ephrin type-a receptor 10 measurement def: "The determination of the amount of ephrin type-a receptor 10 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020351 name: ephrin type-a receptor 2 measurement def: "The determination of the amount of ephrin type-a receptor 2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020352 name: ephrin type-a receptor 3 measurement def: "The determination of the amount of ephrin type-a receptor 3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020353 name: ephrin type-a receptor 5 measurement def: "The determination of the amount of ephrin type-a receptor 5 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020354 name: ephrin type-b receptor 4 measurement def: "The determination of the amount of ephrin type-b receptor 4 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020355 name: ephrin type-b receptor 6 measurement def: "The determination of the amount of ephrin type-b receptor 6 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020356 name: ephrin-A4 measurement def: "The determination of the amount of ephrin-A4 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020357 name: ephrin-A5 measurement def: "The determination of the amount of ephrin-A5 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020358 name: ephrin-B3 measurement def: "The determination of the amount of ephrin-B3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020359 name: epidermal growth factor receptor measurement def: "The determination of the amount of epidermal growth factor receptor in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020360 name: epidermal growth factor receptor substrate 15-like 1 measurement def: "The determination of the amount of epidermal growth factor receptor substrate 15-like 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020361 name: epiregulin measurement def: "The determination of the amount of epiregulin in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020362 name: epithelial discoidin domain-containing receptor 1 measurement def: "The determination of the amount of epithelial discoidin domain-containing receptor 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020363 name: erythropoietin measurement def: "The determination of the amount of erythropoietin in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020364 name: erythropoietin receptor measurement def: "The determination of the amount of erythropoietin receptor in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020365 name: estradiol 17-beta-dehydrogenase 1 measurement def: "The determination of the amount of estradiol 17-beta-dehydrogenase 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020366 name: eukaryotic initiation factor 4a-III measurement def: "The determination of the amount of eukaryotic initiation factor 4a-III in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020367 name: eukaryotic translation initiation factor 4 gamma 2 measurement def: "The determination of the amount of eukaryotic translation initiation factor 4 gamma 2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020368 name: eukaryotic translation initiation factor 4E-binding protein 2 measurement def: "The determination of the amount of eukaryotic translation initiation factor 4E-binding protein 2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020369 name: eukaryotic translation initiation factor 5 measurement def: "The determination of the amount of eukaryotic translation initiation factor 5 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020370 name: eukaryotic translation initiation factor 5A-1 measurement def: "The determination of the amount of eukaryotic translation initiation factor 5A-1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020371 name: fact complex subunit ssrp1 measurement def: "The determination of the amount of fact complex subunit ssrp1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020372 name: fatty acid-binding protein, epidermal measurement def: "The determination of the amount of fatty acid-binding protein, epidermal in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020373 name: fatty acid-binding protein, heart measurement def: "The determination of the amount of fatty acid-binding protein, heart in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020374 name: fibrinogen gamma chain measurement def: "The determination of the amount of fibrinogen gamma chain in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020375 name: fibroblast growth factor 1 measurement def: "The determination of the amount of fibroblast growth factor 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020376 name: fibroblast growth factor 10 measurement def: "The determination of the amount of fibroblast growth factor 10 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020377 name: fibroblast growth factor 12 measurement def: "The determination of the amount of fibroblast growth factor 12 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020378 name: fibroblast growth factor 16 measurement def: "The determination of the amount of fibroblast growth factor 16 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020379 name: fibroblast growth factor 17 measurement def: "The determination of the amount of fibroblast growth factor 17 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020380 name: fibroblast growth factor 18 measurement def: "The determination of the amount of fibroblast growth factor 18 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020381 name: fibroblast growth factor 20 measurement def: "The determination of the amount of fibroblast growth factor 20 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020382 name: fibroblast growth factor 4 measurement def: "The determination of the amount of fibroblast growth factor 4 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020383 name: fibroblast growth factor 6 measurement def: "The determination of the amount of fibroblast growth factor 6 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020384 name: fibroblast growth factor 7 measurement def: "The determination of the amount of fibroblast growth factor 7 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020385 name: fibroblast growth factor 8 isoform A measurement def: "The determination of the amount of fibroblast growth factor 8 isoformA in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020386 name: fibroblast growth factor 8 isoform b measurement def: "The determination of the amount of fibroblast growth factor 8 isoform b in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020387 name: fibroblast growth factor 9 measurement def: "The determination of the amount of fibroblast growth factor 9 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020388 name: fibroblast growth factor receptor 1 measurement def: "The determination of the amount of fibroblast growth factor receptor 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020389 name: fibroblast growth factor receptor 2 measurement def: "The determination of the amount of fibroblast growth factor receptor 2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020390 name: fibroblast growth factor receptor 3 measurement def: "The determination of the amount of fibroblast growth factor receptor 3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020391 name: fibroblast growth factor receptor 4 measurement def: "The determination of the amount of fibroblast growth factor receptor 4 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020392 name: ficolin-3 measurement def: "The determination of the amount of ficolin-3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020393 name: focal adhesion kinase 1 measurement def: "The determination of the amount of focal adhesion kinase 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020394 name: follistatin-related protein 3 measurement def: "The determination of the amount of follistatin-related protein 3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020395 name: fractalkine measurement def: "The determination of the amount of fractalkine in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020396 name: g2/mitotic-specific cyclin-B1 measurement def: "The determination of the amount of g2/mitotic-specific cyclin-B1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020397 name: galectin-2 measurement def: "The determination of the amount of galectin-2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020398 name: galectin-4 measurement def: "The determination of the amount of galectin-4 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020399 name: galectin-8 measurement def: "The determination of the amount of galectin-8 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020400 name: gdnf family receptor alpha-1 measurement def: "The determination of the amount of gdnf family receptor alpha-1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020401 name: gdnf family receptor alpha-3 measurement def: "The determination of the amount of gdnf family receptor alpha-3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020402 name: gelsolin measurement def: "The determination of the amount of gelsolin in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020403 name: glia-derived nexin measurement def: "The determination of the amount of glia-derived nexin in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020404 name: glial fibrillary acidic protein measurement def: "The determination of the amount of glial fibrillary acidic protein in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020405 name: glucocorticoid receptor measurement def: "The determination of the amount of glucocorticoid receptor in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020406 name: glucokinase regulatory protein measurement def: "The determination of the amount of glucokinase regulatory protein in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020407 name: glucose-6-phosphate isomerase measurement def: "The determination of the amount of glucose-6-phosphate isomerase in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020408 name: glutamate carboxypeptidase 2 measurement def: "The determination of the amount of glutamate carboxypeptidase 2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020409 name: glutathione s-transferase a3 measurement def: "The determination of the amount of glutathione s-transferase a3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020410 name: glutathione s-transferase p measurement def: "The determination of the amount of glutathione s-transferase p in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020411 name: glyceraldehyde-3-phosphate dehydrogenase measurement def: "The determination of the amount of glyceraldehyde-3-phosphate dehydrogenase in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020412 name: glycogen synthase kinase-3 alpha/beta measurement def: "The determination of the amount of glycogen synthase kinase-3 alpha/beta in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020413 name: glycylpeptide n-tetradecanoyltransferase 1 measurement def: "The determination of the amount of glycylpeptide n-tetradecanoyltransferase 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020414 name: glypican-2 measurement def: "The determination of the amount of glypican-2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020415 name: glypican-3 measurement def: "The determination of the amount of glypican-3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020416 name: granulocyte colony-stimulating factor receptor measurement def: "The determination of the amount of granulocyte colony-stimulating factor receptor in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020417 name: granulocyte-macrophage colony-stimulating factor measurement def: "The determination of the amount of granulocyte-macrophage colony-stimulating factor in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020418 name: granzyme b measurement def: "The determination of the amount of granzyme b in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020419 name: granzyme h measurement def: "The determination of the amount of granzyme h in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020420 name: grb2-related adapter protein 2 measurement def: "The determination of the amount of grb2-related adapter protein 2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020421 name: gremlin-1 measurement def: "The determination of the amount of gremlin-1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020422 name: gro-beta/gamma measurement def: "The determination of the amount of gro-beta/gamma in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020423 name: group 10 secretory phospholipase A2 measurement def: "The determination of the amount of group 10 secretory phospholipase A2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020424 name: group IIe secretory phospholipase A2 measurement def: "The determination of the amount of group IIe secretory phospholipase A2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020425 name: growth arrest-specific protein 1 measurement def: "The determination of the amount of growth arrest-specific protein 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020426 name: growth hormone receptor measurement def: "The determination of the amount of growth hormone receptor in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020427 name: growth/differentiation factor 11 measurement def: "The determination of the amount of growth/differentiation factor 11 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020428 name: growth/differentiation factor 2 measurement def: "The determination of the amount of growth/differentiation factor 2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020429 name: growth/differentiation factor 5 measurement def: "The determination of the amount of growth/differentiation factor 5 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020430 name: growth/differentiation factor 9 measurement def: "The determination of the amount of growth/differentiation factor 9 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020431 name: GTP-binding nuclear protein ran measurement def: "The determination of the amount of GTP-binding nuclear protein ran in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020432 name: GTPase kras measurement def: "The determination of the amount of GTPase kras in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020433 name: heat shock 70 kda protein 1a/1b measurement def: "The determination of the amount of heat shock 70 kda protein 1a/1b in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020434 name: heat shock cognate 71 kda protein measurement def: "The determination of the amount of heat shock cognate 71 kda protein in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020435 name: heat shock protein hsp 90-alpha/beta measurement def: "The determination of the amount of heat shock protein hsp 90-alpha/beta in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020436 name: heme oxygenase 2 measurement def: "The determination of the amount of heme oxygenase 2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020437 name: heparan-sulfate 6-o-sulfotransferase 1 measurement def: "The determination of the amount of heparan-sulfate 6-o-sulfotransferase 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020438 name: heparin-binding egf-like growth factor measurement def: "The determination of the amount of heparin-binding egf-like growth factor in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020439 name: hepatoma-derived growth factor-related protein 2 measurement def: "The determination of the amount of hepatoma-derived growth factor-related protein 2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020440 name: hepcidin measurement def: "The determination of the amount of hepcidin in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020441 name: heterogeneous nuclear ribonucleoprotein a/b measurement def: "The determination of the amount of heterogeneous nuclear ribonucleoprotein a/b in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020442 name: heterogeneous nuclear ribonucleoprotein k measurement def: "The determination of the amount of heterogeneous nuclear ribonucleoprotein k in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020443 name: heterogeneous nuclear ribonucleoprotein q measurement def: "The determination of the amount of heterogeneous nuclear ribonucleoprotein q in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020444 name: heterogeneous nuclear ribonucleoproteins A2/B1 measurement def: "The determination of the amount of heterogeneous nuclear ribonucleoproteins A2/B1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020445 name: high affinity cAMP-specific 3',5'-cyclic phosphodiesterase 7a measurement def: "The determination of the amount of high affinity cAMP-specific 3',5'-cyclic phosphodiesterase 7a in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020446 name: high affinity cgmp-specific 3',5'-cyclic phosphodiesterase 9a measurement def: "The determination of the amount of high affinity cgmp-specific 3',5'-cyclic phosphodiesterase 9a in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020447 name: high affinity immunoglobulin gamma fc receptor i measurement def: "The determination of the amount of high affinity immunoglobulin gamma fc receptor i in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020448 name: high affinity nerve growth factor receptor measurement def: "The determination of the amount of high affinity nerve growth factor receptor in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020449 name: high mobility group protein B1 measurement def: "The determination of the amount of high mobility group protein B1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020450 name: histidine triad nucleotide-binding protein 1 measurement def: "The determination of the amount of histidine triad nucleotide-binding protein 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020451 name: histone acetyltransferase kat6a measurement def: "The determination of the amount of histone acetyltransferase kat6a in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020452 name: histone acetyltransferase type b catalytic subunit measurement def: "The determination of the amount of histone acetyltransferase type b catalytic subunit in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020453 name: histone deacetylase 8 measurement def: "The determination of the amount of histone deacetylase 8 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020454 name: histone H2A.Z measurement def: "The determination of the amount of histone H2A.Z in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020455 name: histone-lysine n-methyltransferase EHMT2 measurement def: "The determination of the amount of histone-lysine n-methyltransferase EHMT2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020456 name: homeobox protein nanog measurement def: "The determination of the amount of homeobox protein nanog in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020457 name: homeodomain-interacting protein kinase 3 measurement def: "The determination of the amount of homeodomain-interacting protein kinase 3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020458 name: hsp90 co-chaperone CDC37 measurement def: "The determination of the amount of hsp90 co-chaperone CDC37 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020459 name: hyaluronan and proteoglycan link protein 1 measurement def: "The determination of the amount of hyaluronan and proteoglycan link protein 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020460 name: icos ligand measurement def: "The determination of the amount of icos ligand in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020461 name: iduronate 2-sulfatase measurement def: "The determination of the amount of iduronate 2-sulfatase in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020462 name: immunoglobulin alpha fc receptor measurement def: "The determination of the amount of immunoglobulin alpha fc receptor in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020463 name: immunoglobulin D measurement def: "The determination of the amount of immunoglobulin D in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020464 name: immunoglobulin E measurement def: "The determination of the amount of immunoglobulin E in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020465 name: immunoglobulin G measurement def: "The determination of the amount of immunoglobulin G in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020466 name: immunoglobulin M measurement def: "The determination of the amount of immunoglobulin M in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020467 name: importin subunit alpha-1 measurement def: "The determination of the amount of importin subunit alpha-1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020468 name: importin subunit beta-1 measurement def: "The determination of the amount of importin subunit beta-1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020469 name: inhibin beta A chain measurement def: "The determination of the amount of inhibin beta A chain in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020470 name: inhibin beta A chain:inhibin beta B chain heterodimer measurement def: "The determination of the amount of inhibin beta A chain:inhibin beta B chain heterodimer in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020471 name: inhibitor of growth protein 1 measurement def: "The determination of the amount of inhibitor of growth protein 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020472 name: insulin-degrading enzyme measurement def: "The determination of the amount of insulin-degrading enzyme in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020473 name: insulin-like growth factor 1 receptor measurement def: "The determination of the amount of insulin-like growth factor 1 receptor in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020474 name: insulin-like growth factor-binding protein 1 measurement def: "The determination of the amount of insulin-like growth factor-binding protein 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020475 name: insulin-like growth factor-binding protein 2 measurement def: "The determination of the amount of insulin-like growth factor-binding protein 2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020476 name: insulin-like growth factor-binding protein 4 measurement def: "The determination of the amount of insulin-like growth factor-binding protein 4 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020477 name: insulin-like growth factor-binding protein 5 measurement def: "The determination of the amount of insulin-like growth factor-binding protein 5 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020478 name: insulin-like growth factor-binding protein 6 measurement def: "The determination of the amount of insulin-like growth factor-binding protein 6 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020479 name: integrin alpha-IIb: beta-3 complex measurement def: "The determination of the amount of integrin alpha-IIb: beta-3 complex in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020480 name: integrin alpha-V: beta-5 complex measurement def: "The determination of the amount of integrin alpha-V: beta-5 complex in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020481 name: inter-alpha-trypsin inhibitor heavy chain h4 measurement def: "The determination of the amount of inter-alpha-trypsin inhibitor heavy chain h4 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020482 name: intercellular adhesion molecule 3 measurement def: "The determination of the amount of intercellular adhesion molecule 3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020483 name: interferon alpha-2 measurement def: "The determination of the amount of interferon alpha-2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020484 name: interferon gamma receptor 1 measurement def: "The determination of the amount of interferon gamma receptor 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020485 name: interferon lambda-1 measurement def: "The determination of the amount of interferon lambda-1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020486 name: interferon lambda-2 measurement def: "The determination of the amount of interferon lambda-2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020487 name: interleukin-1 receptor type 1 measurement def: "The determination of the amount of interleukin-1 receptor type 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020488 name: interleukin-10 measurement def: "The determination of the amount of interleukin-10 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020489 name: interleukin-10 receptor subunit beta measurement def: "The determination of the amount of interleukin-10 receptor subunit beta in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020490 name: interleukin-11 measurement def: "The determination of the amount of interleukin-11 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020491 name: interleukin-11 receptor subunit alpha measurement def: "The determination of the amount of interleukin-11 receptor subunit alpha in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020492 name: interleukin-12 receptor subunit beta-2 measurement def: "The determination of the amount of interleukin-12 receptor subunit beta-2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020493 name: interleukin-13 receptor subunit alpha-1 measurement def: "The determination of the amount of interleukin-13 receptor subunit alpha-1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020494 name: interleukin-17 receptor c measurement def: "The determination of the amount of interleukin-17 receptor c in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020495 name: interleukin-18-binding protein measurement def: "The determination of the amount of interleukin-18-binding protein in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020496 name: interleukin-20 measurement def: "The determination of the amount of interleukin-20 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020497 name: interleukin-20 receptor subunit alpha measurement def: "The determination of the amount of interleukin-20 receptor subunit alpha in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020498 name: interleukin-22 measurement def: "The determination of the amount of interleukin-22 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020499 name: interleukin-22 receptor subunit alpha-1 measurement def: "The determination of the amount of interleukin-22 receptor subunit alpha-1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020500 name: interleukin-22 receptor subunit alpha-2 measurement def: "The determination of the amount of interleukin-22 receptor subunit alpha-2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020501 name: interleukin-23 measurement def: "The determination of the amount of interleukin-23 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020502 name: interleukin-24 measurement def: "The determination of the amount of interleukin-24 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020503 name: interleukin-3 measurement def: "The determination of the amount of interleukin-3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020504 name: interleukin-3 receptor subunit alpha measurement def: "The determination of the amount of interleukin-3 receptor subunit alpha in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020505 name: interleukin-34 measurement def: "The determination of the amount of interleukin-34 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020506 name: interleukin-37 measurement def: "The determination of the amount of interleukin-37 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020507 name: interleukin-4 receptor subunit alpha measurement def: "The determination of the amount of interleukin-4 receptor subunit alpha in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020508 name: interleukin-7 receptor subunit alpha measurement def: "The determination of the amount of interleukin-7 receptor subunit alpha in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020509 name: junctional adhesion molecule B measurement def: "The determination of the amount of junctional adhesion molecule B in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020510 name: junctional adhesion molecule C measurement def: "The determination of the amount of junctional adhesion molecule C in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020511 name: junctional adhesion molecule-like measurement def: "The determination of the amount of junctional adhesion molecule-like in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020512 name: kallikrein-13 measurement def: "The determination of the amount of kallikrein-13 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020513 name: kallikrein-14 measurement def: "The determination of the amount of kallikrein-14 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020514 name: kallikrein-4 measurement def: "The determination of the amount of kallikrein-4 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020515 name: kallikrein-5 measurement def: "The determination of the amount of kallikrein-5 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020516 name: kallikrein-8 measurement def: "The determination of the amount of kallikrein-8 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020517 name: keratin, type I cytoskeletal 18 measurement def: "The determination of the amount of keratin, type I cytoskeletal 18 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020518 name: killer cell immunoglobulin-like receptor 3DL2 measurement def: "The determination of the amount of killer cell immunoglobulin-like receptor 3DL2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020519 name: killer cell immunoglobulin-like receptor 3DS1 measurement def: "The determination of the amount of killer cell immunoglobulin-like receptor 3DS1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020520 name: killer cell lectin-like receptor subfamily F member 1 measurement def: "The determination of the amount of killer cell lectin-like receptor subfamily F member 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020521 name: kin of IRRE-like protein 3 measurement def: "The determination of the amount of kin of IRRE-like protein 3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020522 name: kinesin-like protein KIF23 measurement def: "The determination of the amount of kinesin-like protein KIF23 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020523 name: kremen protein 2 measurement def: "The determination of the amount of kremen protein 2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020524 name: L-lactate dehydrogenase B chain measurement def: "The determination of the amount of L-lactate dehydrogenase B chain in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020525 name: lactoperoxidase measurement def: "The determination of the amount of lactoperoxidase in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020526 name: lactotransferrin measurement def: "The determination of the amount of lactotransferrin in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020527 name: lamin-B1 measurement def: "The determination of the amount of lamin-B1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020528 name: laminin measurement def: "The determination of the amount of laminin in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020529 name: layilin measurement def: "The determination of the amount of layilin in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020530 name: legumain measurement def: "The determination of the amount of legumain in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020531 name: leucine-rich repeat transmembrane neuronal protein 1 measurement def: "The determination of the amount of leucine-rich repeat transmembrane neuronal protein 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020532 name: leucine-rich repeat transmembrane neuronal protein 3 measurement def: "The determination of the amount of leucine-rich repeat transmembrane neuronal protein 3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020533 name: leucine-rich repeat transmembrane protein FLRT1 measurement def: "The determination of the amount of leucine-rich repeat transmembrane protein FLRT1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020534 name: leucine-rich repeats and immunoglobulin-like domains protein 3 measurement def: "The determination of the amount of leucine-rich repeats and immunoglobulin-like domains protein 3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020535 name: leukotriene a-4 hydrolase measurement def: "The determination of the amount of leukotriene a-4 hydrolase in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020536 name: ligand-dependent nuclear receptor corepressor-like protein measurement def: "The determination of the amount of ligand-dependent nuclear receptor corepressor-like protein in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020537 name: limbic system-associated membrane protein measurement def: "The determination of the amount of limbic system-associated membrane protein in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020538 name: low-density lipoprotein receptor-related protein 8 measurement def: "The determination of the amount of low-density lipoprotein receptor-related protein 8 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020539 name: lymphatic vessel endothelial hyaluronic acid receptor 1 measurement def: "The determination of the amount of lymphatic vessel endothelial hyaluronic acid receptor 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020540 name: lymphocyte activation gene 3 protein measurement def: "The determination of the amount of lymphocyte activation gene 3 protein in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020541 name: lymphocyte antigen 86 measurement def: "The determination of the amount of lymphocyte antigen 86 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020542 name: lymphotoxin alpha1:beta2 measurement def: "The determination of the amount of lymphotoxin alpha1:beta2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020543 name: lymphotoxin alpha2:beta1 measurement def: "The determination of the amount of lymphotoxin alpha2:beta1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020544 name: lymphotoxin-alpha measurement def: "The determination of the amount of lymphotoxin-alpha in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020545 name: lysosome membrane protein 2 measurement def: "The determination of the amount of lysosome membrane protein 2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020546 name: macrophage colony-stimulating factor 1 measurement def: "The determination of the amount of macrophage colony-stimulating factor 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020547 name: macrophage colony-stimulating factor 1 receptor measurement def: "The determination of the amount of macrophage colony-stimulating factor 1 receptor in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020548 name: macrophage mannose receptor 1 measurement def: "The determination of the amount of macrophage mannose receptor 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020549 name: macrophage-capping protein measurement def: "The determination of the amount of macrophage-capping protein in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020550 name: macrophage-stimulating protein receptor measurement def: "The determination of the amount of macrophage-stimulating protein receptor in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020551 name: malate dehydrogenase, cytoplasmic measurement def: "The determination of the amount of malate dehydrogenase, cytoplasmic in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020552 name: mammaglobin-b measurement def: "The determination of the amount of mammaglobin-b in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020553 name: MAP kinase-activated protein kinase 5 measurement def: "The determination of the amount of MAP kinase-activated protein kinase 5 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020554 name: mast/stem cell growth factor receptor kit measurement def: "The determination of the amount of mast/stem cell growth factor receptor kit in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020555 name: matrilin-2 measurement def: "The determination of the amount of matrilin-2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020556 name: matrilin-3 measurement def: "The determination of the amount of matrilin-3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020557 name: matrix extracellular phosphoglycoprotein measurement def: "The determination of the amount of matrix extracellular phosphoglycoprotein in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020558 name: matrix metalloproteinase-14 measurement def: "The determination of the amount of matrix metalloproteinase-14 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020559 name: matrix metalloproteinase-16 measurement def: "The determination of the amount of matrix metalloproteinase-16 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020560 name: matrix metalloproteinase-17 measurement def: "The determination of the amount of matrix metalloproteinase-17 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020561 name: matrix metalloproteinase-9 measurement def: "The determination of the amount of matrix metalloproteinase-9 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020562 name: megakaryocyte-associated tyrosine-protein kinase measurement def: "The determination of the amount of megakaryocyte-associated tyrosine-protein kinase in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020563 name: membrane frizzled-related protein measurement def: "The determination of the amount of membrane frizzled-related protein in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020564 name: membrane metallo-endopeptidase-like 1 measurement def: "The determination of the amount of membrane metallo-endopeptidase-like 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020565 name: mesothelin measurement def: "The determination of the amount of mesothelin in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020566 name: metalloproteinase inhibitor 1 measurement def: "The determination of the amount of metalloproteinase inhibitor 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020567 name: metalloproteinase inhibitor 2 measurement def: "The determination of the amount of metalloproteinase inhibitor 2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020568 name: methionine aminopeptidase 1 measurement def: "The determination of the amount of methionine aminopeptidase 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020569 name: methyl-cpg-binding domain protein 4 measurement def: "The determination of the amount of methyl-cpg-binding domain protein 4 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020570 name: microtubule-associated protein tau measurement def: "The determination of the amount of microtubule-associated protein tau in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020571 name: midkine measurement def: "The determination of the amount of midkine in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020572 name: mitochondrial glutamate carrier 2 measurement def: "The determination of the amount of mitochondrial glutamate carrier 2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020573 name: mitochondrial import inner membrane translocase subunit tim14 measurement def: "The determination of the amount of mitochondrial import inner membrane translocase subunit tim14 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020574 name: mitogen-activated protein kinase 1 measurement def: "The determination of the amount of mitogen-activated protein kinase 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020575 name: mitogen-activated protein kinase 11 measurement def: "The determination of the amount of mitogen-activated protein kinase 11 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020576 name: mitogen-activated protein kinase 12 measurement def: "The determination of the amount of mitogen-activated protein kinase 12 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020577 name: mitogen-activated protein kinase 13 measurement def: "The determination of the amount of mitogen-activated protein kinase 13 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020578 name: mitogen-activated protein kinase 14 measurement def: "The determination of the amount of mitogen-activated protein kinase 14 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020579 name: mitogen-activated protein kinase 3 measurement def: "The determination of the amount of mitogen-activated protein kinase 3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020580 name: mitogen-activated protein kinase 8 measurement def: "The determination of the amount of mitogen-activated protein kinase 8 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020581 name: mitogen-activated protein kinase 9 measurement def: "The determination of the amount of mitogen-activated protein kinase 9 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020582 name: mitogen-activated protein kinase kinase kinase 7:tgf-beta-activated kinase 1 and map3k7-binding protein 1 fusion measurement def: "The determination of the amount of mitogen-activated protein kinase kinase kinase 7:tgf-beta-activated kinase 1 and map3k7-binding protein 1 fusion in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020583 name: moesin measurement def: "The determination of the amount of moesin in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020584 name: muellerian-inhibiting factor measurement def: "The determination of the amount of muellerian-inhibiting factor in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020585 name: myeloblastin measurement def: "The determination of the amount of myeloblastin in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020586 name: n-acetylglucosamine-6-sulfatase measurement def: "The determination of the amount of n-acetylglucosamine-6-sulfatase in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020587 name: nascent polypeptide-associated complex subunit alpha measurement def: "The determination of the amount of nascent polypeptide-associated complex subunit alpha in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020588 name: natural cytotoxicity triggering receptor 1 measurement def: "The determination of the amount of natural cytotoxicity triggering receptor 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020589 name: natural cytotoxicity triggering receptor 2 measurement def: "The determination of the amount of natural cytotoxicity triggering receptor 2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020590 name: netrin receptor UNC5C measurement def: "The determination of the amount of netrin receptor UNC5C in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020591 name: netrin receptor UNC5D measurement def: "The determination of the amount of netrin receptor UNC5D in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020592 name: netrin-4 measurement def: "The determination of the amount of netrin-4 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020593 name: neural cell adhesion molecule 1, 120 kda isoform measurement def: "The determination of the amount of neural cell adhesion molecule 1, 120 kda isoform in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020594 name: neural cell adhesion molecule L1 measurement def: "The determination of the amount of neural cell adhesion molecule L1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020595 name: neural cell adhesion molecule l1-like protein measurement def: "The determination of the amount of neural cell adhesion molecule l1-like protein in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020596 name: neurexin-1-beta measurement def: "The determination of the amount of neurexin-1-beta in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020597 name: neurexin-3-beta measurement def: "The determination of the amount of neurexin-3-beta in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020598 name: neuroblastoma suppressor of tumorigenicity 1 measurement def: "The determination of the amount of neuroblastoma suppressor of tumorigenicity 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020599 name: neurogenic locus notch homolog protein 2 measurement def: "The determination of the amount of neurogenic locus notch homolog protein 2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020600 name: neurogenic locus notch homolog protein 3 measurement def: "The determination of the amount of neurogenic locus notch homolog protein 3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020601 name: neuroligin-4, x-linked measurement def: "The determination of the amount of neuroligin-4, x-linked in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020602 name: neuronal cell adhesion molecule measurement def: "The determination of the amount of neuronal cell adhesion molecule in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020603 name: neuropilin-1 measurement def: "The determination of the amount of neuropilin-1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020604 name: neurotrophin-4 measurement def: "The determination of the amount of neurotrophin-4 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020605 name: neutrophil elastase measurement def: "The determination of the amount of neutrophil elastase in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020606 name: neutrophil-activating peptide 2 measurement def: "The determination of the amount of neutrophil-activating peptide 2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020607 name: nicotinamide phosphoribosyltransferase measurement def: "The determination of the amount of nicotinamide phosphoribosyltransferase in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020608 name: nidogen-2 measurement def: "The determination of the amount of nidogen-2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020609 name: NKG2-D ligand 1 measurement def: "The determination of the amount of NKG2-D ligand 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020610 name: NKG2-D ligand 2 measurement def: "The determination of the amount of NKG2-D ligand 2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020611 name: NKG2-D ligand 3 measurement def: "The determination of the amount of NKG2-D ligand 3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020612 name: NFSL1 cofactor p47 measurement def: "The determination of the amount of NFSL1 cofactor p47 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020613 name: nt-3 growth factor receptor measurement def: "The determination of the amount of nt-3 growth factor receptor in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020614 name: nuclear receptor subfamily 1 group d member 1 measurement def: "The determination of the amount of nuclear receptor subfamily 1 group d member 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020615 name: nucleoside diphosphate kinase B measurement def: "The determination of the amount of nucleoside diphosphate kinase B in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020616 name: NudC domain-containing protein 3 measurement def: "The determination of the amount of NudC domain-containing protein 3 in a sample." [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020617 name: olfactomedin-4 measurement def: "The determination of the amount of olfactomedin-4 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020618 name: opioid-binding protein/cell adhesion molecule measurement def: "The determination of the amount of opioid-binding protein/cell adhesion molecule in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020619 name: osteomodulin measurement def: "The determination of the amount of osteomodulin in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020620 name: oxidized low-density lipoprotein receptor 1 measurement def: "The determination of the amount of oxidized low-density lipoprotein receptor 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020621 name: pancreatic hormone measurement def: "The determination of the amount of pancreatic hormone in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020622 name: parathyroid hormone-related protein measurement def: "The determination of the amount of parathyroid hormone-related protein in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020623 name: peptide yy measurement def: "The determination of the amount of peptide yy in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020624 name: peptidoglycan recognition protein 1 measurement def: "The determination of the amount of peptidoglycan recognition protein 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020625 name: peptidyl-prolyl cis-trans isomerase A measurement def: "The determination of the amount of peptidyl-prolyl cis-trans isomerase A in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020626 name: peptidyl-prolyl cis-trans isomerase B measurement def: "The determination of the amount of peptidyl-prolyl cis-trans isomerase B in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020627 name: peptidyl-prolyl cis-trans isomerase F, mitochondrial measurement def: "The determination of the amount of peptidyl-prolyl cis-trans isomerase F, mitochondrial in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020628 name: periostin measurement def: "The determination of the amount of periostin in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020629 name: peroxiredoxin-1 measurement def: "The determination of the amount of peroxiredoxin-1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020630 name: peroxiredoxin-5, mitochondrial measurement def: "The determination of the amount of peroxiredoxin-5, mitochondrial in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020631 name: peroxiredoxin-6 measurement def: "The determination of the amount of peroxiredoxin-6 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020632 name: persephin measurement def: "The determination of the amount of persephin in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020633 name: pescadillo homolog measurement def: "The determination of the amount of pescadillo homolog in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020634 name: phosphatidylethanolamine-binding protein 1 measurement def: "The determination of the amount of phosphatidylethanolamine-binding protein 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020635 name: phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase pten measurement def: "The determination of the amount of phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase pten in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020636 name: phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform:phosphatidylinositol 3-kinase regulatory subunit alpha complex measurement def: "The determination of the amount of phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform:phosphatidylinositol 3-kinase regulatory subunit alpha complex in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020637 name: phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform measurement def: "The determination of the amount of phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020638 name: phosphoglycerate kinase 1 measurement def: "The determination of the amount of phosphoglycerate kinase 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020639 name: phosphoglycerate mutase 1 measurement def: "The determination of the amount of phosphoglycerate mutase 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020640 name: pituitary adenylate cyclase-activating polypeptide 27 measurement def: "The determination of the amount of pituitary adenylate cyclase-activating polypeptide 27 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020641 name: pituitary adenylate cyclase-activating polypeptide 38 measurement def: "The determination of the amount of pituitary adenylate cyclase-activating polypeptide 38 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020642 name: plasma serine protease inhibitor measurement def: "The determination of the amount of plasma serine protease inhibitor in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020643 name: plasmin measurement def: "The determination of the amount of plasmin in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020644 name: platelet factor 4 measurement def: "The determination of the amount of platelet factor 4 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020645 name: platelet glycoprotein ib alpha chain measurement def: "The determination of the amount of platelet glycoprotein ib alpha chain in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020646 name: platelet-activating factor acetylhydrolase ib subunit beta measurement def: "The determination of the amount of platelet-activating factor acetylhydrolase ib subunit beta in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020647 name: platelet-activating factor acetylhydrolase measurement def: "The determination of the amount of platelet-activating factor acetylhydrolase in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020648 name: platelet-derived growth factor c measurement def: "The determination of the amount of platelet-derived growth factor c in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020649 name: platelet-derived growth factor subunitAmeasurement def: "The determination of the amount of platelet-derived growth factor subunitA in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020650 name: platelet-derived growth factor subunit b measurement def: "The determination of the amount of platelet-derived growth factor subunit b in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020651 name: pleiotrophin measurement def: "The determination of the amount of pleiotrophin in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020652 name: prefoldin subunit 5 measurement def: "The determination of the amount of prefoldin subunit 5 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020653 name: probable g-protein coupled receptor 114 measurement def: "The determination of the amount of probable g-protein coupled receptor 114 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020654 name: programmed cell death 1 ligand 1 measurement def: "The determination of the amount of programmed cell death 1 ligand 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020655 name: prokineticin-1 measurement def: "The determination of the amount of prokineticin-1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020656 name: prolactin receptor measurement def: "The determination of the amount of prolactin receptor in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020657 name: proliferating cell nuclear antigen measurement def: "The determination of the amount of proliferating cell nuclear antigen in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020658 name: proliferation-associated protein 2g4 measurement def: "The determination of the amount of proliferation-associated protein 2g4 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020659 name: prostaglandin g/h synthase 2 measurement def: "The determination of the amount of prostaglandin g/h synthase 2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020660 name: prostate-specific antigen measurement def: "The determination of the amount of prostate-specific antigen in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020661 name: proteasome activator complex subunit 1 measurement def: "The determination of the amount of proteasome activator complex subunit 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020662 name: proteasome activator complex subunit 3 measurement def: "The determination of the amount of proteasome activator complex subunit 3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020663 name: proteasome subunit alpha type-1 measurement def: "The determination of the amount of proteasome subunit alpha type-1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020664 name: proteasome subunit alpha type-2 measurement def: "The determination of the amount of proteasome subunit alpha type-2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020665 name: proteasome subunit alpha type-6 measurement def: "The determination of the amount of proteasome subunit alpha type-6 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020666 name: protein 4.1 measurement def: "The determination of the amount of protein 4.1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020667 name: protein amnionless measurement def: "The determination of the amount of protein amnionless in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020668 name: protein disulfide-isomerase a3 measurement def: "The determination of the amount of protein disulfide-isomerase a3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020669 name: protein disulfide-isomerase measurement def: "The determination of the amount of protein disulfide-isomerase in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020670 name: protein dj-1 measurement def: "The determination of the amount of protein dj-1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020671 name: protein e7_hpv16 measurement def: "The determination of the amount of protein e7_hpv16 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020672 name: protein e7_hpv18 measurement def: "The determination of the amount of protein e7_hpv18 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020673 name: protein fam107a measurement def: "The determination of the amount of protein fam107a in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020674 name: protein fam107b measurement def: "The determination of the amount of protein fam107b in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020675 name: protein jagged-2 measurement def: "The determination of the amount of protein jagged-2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020676 name: protein kinase b alpha/beta/gamma measurement def: "The determination of the amount of protein kinase b alpha/beta/gamma in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020677 name: protein kinase c alpha type measurement def: "The determination of the amount of protein kinase c alpha type in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020678 name: protein kinase c beta type (splice variant beta-II) measurement def: "The determination of the amount of protein kinase c beta type (splice variant beta-II) in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020679 name: protein kinase c delta type measurement def: "The determination of the amount of protein kinase c delta type in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020680 name: protein kinase c gamma type measurement def: "The determination of the amount of protein kinase c gamma type in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020681 name: protein kinase c iota type measurement def: "The determination of the amount of protein kinase c iota type in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020682 name: protein kinase c theta type measurement def: "The determination of the amount of protein kinase c theta type in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020683 name: protein kinase c zeta type measurement def: "The determination of the amount of protein kinase c zeta type in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020684 name: radical prostatectomy def: "The surgical removal of all of the prostate as well as some surrounding tissue, including lymph nodes." [] xref: NCIt:C15399 xref: PMID:34680357 is_a: EFO:0002571 ! medical procedure property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-01-14T15:32:16Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0020685 name: protein nov homolog measurement def: "The determination of the amount of protein nov homolog in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020686 name: protein rev_hv2be measurement def: "The determination of the amount of protein rev_hv2be in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020687 name: protein s100-a9 measurement def: "The determination of the amount of protein s100-a9 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020688 name: protein set measurement def: "The determination of the amount of protein set in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020689 name: protein wnt-7a measurement def: "The determination of the amount of protein wnt-7a in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020690 name: protein-glutamine gamma-glutamyltransferase e measurement def: "The determination of the amount of protein-glutamine gamma-glutamyltransferase e in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020691 name: protein-tyrosine kinase 6 measurement def: "The determination of the amount of protein-tyrosine kinase 6 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020692 name: prothrombin measurement def: "The determination of the amount of prothrombin in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020693 name: pulmonary surfactant-associated protein d measurement def: "The determination of the amount of pulmonary surfactant-associated protein d in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020694 name: pyridoxal phosphate phosphatase measurement def: "The determination of the amount of pyridoxal phosphate phosphatase in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020695 name: pyruvate kinase pkm measurement def: "The determination of the amount of pyruvate kinase pkm in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020696 name: r-spondin-2 measurement def: "The determination of the amount of r-spondin-2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020697 name: rab gdp dissociation inhibitor beta measurement def: "The determination of the amount of rab gdp dissociation inhibitor beta in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020698 name: ras GTPase-activating protein 1 measurement def: "The determination of the amount of ras GTPase-activating protein 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020699 name: ras-related c3 botulinum toxin substrate 1 measurement def: "The determination of the amount of ras-related c3 botulinum toxin substrate 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020700 name: receptor tyrosine-protein kinase erbb-2 measurement def: "The determination of the amount of receptor tyrosine-protein kinase erbb-2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020701 name: receptor tyrosine-protein kinase erbb-3 measurement def: "The determination of the amount of receptor tyrosine-protein kinase erbb-3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020702 name: receptor tyrosine-protein kinase erbb-4 measurement def: "The determination of the amount of receptor tyrosine-protein kinase erbb-4 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020703 name: receptor-type tyrosine-protein kinase flt3 measurement def: "The determination of the amount of receptor-type tyrosine-protein kinase flt3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020704 name: reticulon-4 measurement def: "The determination of the amount of reticulon-4 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020705 name: reticulon-4 receptor measurement def: "The determination of the amount of reticulon-4 receptor in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020706 name: retinoblastoma-associated protein measurement def: "The determination of the amount of retinoblastoma-associated protein in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020707 name: retinol-binding protein 4 measurement def: "The determination of the amount of retinol-binding protein 4 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020708 name: rgm domain family member b measurement def: "The determination of the amount of rgm domain family member b in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020709 name: ribosomal protein s6 kinase alpha-3 measurement def: "The determination of the amount of ribosomal protein s6 kinase alpha-3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020710 name: ribosomal protein s6 kinase alpha-5 measurement def: "The determination of the amount of ribosomal protein s6 kinase alpha-5 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020711 name: ribosome maturation protein sbds measurement def: "The determination of the amount of ribosome maturation protein sbds in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020712 name: rna-binding protein 39 measurement def: "The determination of the amount of rna-binding protein 39 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020713 name: roundabout homolog 2 measurement def: "The determination of the amount of roundabout homolog 2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020714 name: roundabout homolog 3 measurement def: "The determination of the amount of roundabout homolog 3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020715 name: s-phase kinase-associated protein 1 measurement def: "The determination of the amount of s-phase kinase-associated protein 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020716 name: scavenger receptor class F member 2 measurement def: "The determination of the amount of scavenger receptor class F member 2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020717 name: scavenger receptor cysteine-rich type 1 protein m130 measurement def: "The determination of the amount of scavenger receptor cysteine-rich type 1 protein m130 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020718 name: secreted frizzled-related protein 1 measurement def: "The determination of the amount of secreted frizzled-related protein 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020719 name: secretin measurement def: "The determination of the amount of secretin in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020720 name: seizure 6-like protein 2 measurement def: "The determination of the amount of seizure 6-like protein 2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020721 name: semaphorin-6A measurement def: "The determination of the amount of semaphorin-6A in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020722 name: seprase measurement def: "The determination of the amount of seprase in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020723 name: serine protease HTRA2, mitochondrial measurement def: "The determination of the amount of serine protease HTRA2, mitochondrial in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020724 name: serine/threonine-protein kinase 16 measurement def: "The determination of the amount of serine/threonine-protein kinase 16 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020725 name: serine/threonine-protein kinase CHK11 measurement def: "The determination of the amount of serine/threonine-protein kinase CHK11 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020726 name: serine/threonine-protein kinase CHK2 measurement def: "The determination of the amount of serine/threonine-protein kinase CHK2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020727 name: serine/threonine-protein kinase MRCK beta measurement def: "The determination of the amount of serine/threonine-protein kinase MRCK beta in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020728 name: serine/threonine-protein kinase PAK 3 measurement def: "The determination of the amount of serine/threonine-protein kinase PAK 3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020729 name: serine/threonine-protein kinase PAK 6 measurement def: "The determination of the amount of serine/threonine-protein kinase PAK 6 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020730 name: serine/threonine-protein kinase PAK 7 measurement def: "The determination of the amount of serine/threonine-protein kinase PAK 7 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020731 name: serine/threonine-protein kinase PIM-1 measurement def: "The determination of the amount of serine/threonine-protein kinase PIM-1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020732 name: serine/threonine-protein kinase PLK1 measurement def: "The determination of the amount of serine/threonine-protein kinase PLK1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020733 name: serine/threonine-protein kinase receptor R3 measurement def: "The determination of the amount of serine/threonine-protein kinase receptor R3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020734 name: serine/threonine-protein kinase TBK1 measurement def: "The determination of the amount of serine/threonine-protein kinase TBK1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020735 name: serotransferrin measurement def: "The determination of the amount of serotransferrin in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020736 name: serum paraoxonase/arylesterase 1 measurement def: "The determination of the amount of serum paraoxonase/arylesterase 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020737 name: sh2 domain-containing protein 1a measurement def: "The determination of the amount of sh2 domain-containing protein 1a in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020738 name: shc-transforming protein 1 measurement def: "The determination of the amount of shc-transforming protein 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020739 name: sialic acid-binding ig-like lectin 7 measurement def: "The determination of the amount of sialic acid-binding ig-like lectin 7 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020740 name: sialoadhesin measurement def: "The determination of the amount of sialoadhesin in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020741 name: SLAM family member 5 measurement def: "The determination of the amount of SLAM family member 5 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020742 name: SLAM family member 6 measurement def: "The determination of the amount of SLAM family member 6 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020743 name: slit and ntrk-like protein 5 measurement def: "The determination of the amount of slit and ntrk-like protein 5 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020744 name: small glutamine-rich tetratricopeptide repeat-containing protein alpha measurement def: "The determination of the amount of small glutamine-rich tetratricopeptide repeat-containing protein alpha in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020745 name: somatostatin-28 measurement def: "The determination of the amount of somatostatin-28 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020746 name: sonic hedgehog protein measurement def: "The determination of the amount of sonic hedgehog protein in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020747 name: sorting nexin-4 measurement def: "The determination of the amount of sorting nexin-4 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020748 name: SPARC measurement def: "The determination of the amount of SPARC in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020749 name: spectrin alpha chain, non-erythrocytic 1 measurement def: "The determination of the amount of spectrin alpha chain, non-erythrocytic 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020750 name: sphingosine kinase 1 measurement def: "The determination of the amount of sphingosine kinase 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020751 name: sphingosine kinase 2 measurement def: "The determination of the amount of sphingosine kinase 2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020752 name: stabilin-2 measurement def: "The determination of the amount of stabilin-2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020753 name: stanniocalcin-1 measurement def: "The determination of the amount of stanniocalcin-1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020754 name: stem cell growth factor-alpha measurement def: "The determination of the amount of stem cell growth factor-alpha in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020755 name: stress-induced-phosphoprotein 1 measurement def: "The determination of the amount of stress-induced-phosphoprotein 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020756 name: stromal cell-derived factor 1 measurement def: "The determination of the amount of stromal cell-derived factor 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020757 name: sumo-conjugating enzyme UBC9 measurement def: "The determination of the amount of sumo-conjugating enzyme UBC9 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020758 name: superoxide dismutase [Cu-Zn] measurement def: "The determination of the amount of superoxide dismutase [Cu-Zn] in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020759 name: syntaxin-1a measurement def: "The determination of the amount of syntaxin-1a in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020760 name: t-cell surface glycoprotein CD4 measurement def: "The determination of the amount of t-cell surface glycoprotein CD4 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020761 name: t-lymphocyte activation antigen CD80 measurement def: "The determination of the amount of t-lymphocyte activation antigen CD80 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020762 name: t-lymphocyte activation antigen CD86 measurement def: "The determination of the amount of t-lymphocyte activation antigen CD86 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020763 name: tartrate-resistant acid phosphatase type 5 measurement def: "The determination of the amount of tartrate-resistant acid phosphatase type 5 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020764 name: tata-box-binding protein measurement def: "The determination of the amount of tata-box-binding protein in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020765 name: testican-1 measurement def: "The determination of the amount of testican-1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020766 name: testican-2 measurement def: "The determination of the amount of testican-2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020767 name: tgf-beta receptor type-2 measurement def: "The determination of the amount of tgf-beta receptor type-2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020768 name: thrombin measurement def: "The determination of the amount of thrombin in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020769 name: thrombopoietin receptor measurement def: "The determination of the amount of thrombopoietin receptor in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020770 name: thrombospondin-1 measurement def: "The determination of the amount of thrombospondin-1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020771 name: thrombospondin-4 measurement def: "The determination of the amount of thrombospondin-4 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020772 name: thymic stromal lymphopoietin measurement def: "The determination of the amount of thymic stromal lymphopoietin in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020773 name: thymidine kinase, cytosolic measurement def: "The determination of the amount of thymidine kinase, cytosolic in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020774 name: thymidylate synthase measurement def: "The determination of the amount of thymidylate synthase in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020775 name: thyroid peroxidase measurement def: "The determination of the amount of thyroid peroxidase in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020776 name: tissue-type plasminogen activator measurement def: "The determination of the amount of tissue-type plasminogen activator in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020777 name: toll-like receptor 2 measurement def: "The determination of the amount of toll-like receptor 2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020778 name: transcription factor IIIb 90 kda subunit measurement def: "The determination of the amount of transcription factor IIIb 90 kda subunit in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020779 name: transforming growth factor beta receptor type 3 measurement def: "The determination of the amount of transforming growth factor beta receptor type 3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020780 name: transforming growth factor beta-1 measurement def: "The determination of the amount of transforming growth factor beta-1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020781 name: transforming growth factor beta-2 measurement def: "The determination of the amount of transforming growth factor beta-2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020782 name: transforming growth factor beta-3 measurement def: "The determination of the amount of transforming growth factor beta-3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020783 name: transketolase measurement def: "The determination of the amount of transketolase in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020784 name: translationally-controlled tumor protein measurement def: "The determination of the amount of translationally-controlled tumor protein in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020785 name: triosephosphate isomerase measurement def: "The determination of the amount of triosephosphate isomerase in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020786 name: tropomyosin alpha-1 chain measurement def: "The determination of the amount of tropomyosin alpha-1 chain in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020787 name: tropomyosin beta chain measurement def: "The determination of the amount of tropomyosin beta chain in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020788 name: troponin i, cardiac muscle measurement def: "The determination of the amount of troponin i, cardiac muscle in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020789 name: troponin i, fast skeletal muscle measurement def: "The determination of the amount of troponin i, fast skeletal muscle in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020790 name: trypsin-1 measurement def: "The determination of the amount of trypsin-1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020791 name: trypsin-3 measurement def: "The determination of the amount of trypsin-3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020792 name: tryptase gamma measurement def: "The determination of the amount of tryptase gamma in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020793 name: tumor necrosis factor ligand superfamily member 13B measurement def: "The determination of the amount of tumor necrosis factor ligand superfamily member 13B in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020794 name: tumor necrosis factor ligand superfamily member 15 measurement def: "The determination of the amount of tumor necrosis factor ligand superfamily member 15 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020795 name: tumor necrosis factor ligand superfamily member 18 measurement def: "The determination of the amount of tumor necrosis factor ligand superfamily member 18 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020796 name: tumor necrosis factor ligand superfamily member 4 measurement def: "The determination of the amount of tumor necrosis factor ligand superfamily member 4 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020797 name: tumor necrosis factor ligand superfamily member 6, soluble form measurement def: "The determination of the amount of tumor necrosis factor ligand superfamily member 6, soluble form in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020798 name: tumor necrosis factor ligand superfamily member 9 measurement def: "The determination of the amount of tumor necrosis factor ligand superfamily member 9 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020799 name: tumor necrosis factor receptor superfamily member 10A measurement def: "The determination of the amount of tumor necrosis factor receptor superfamily member 10A in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020800 name: tumor necrosis factor receptor superfamily member 11A measurement def: "The determination of the amount of tumor necrosis factor receptor superfamily member 11A in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020801 name: tumor necrosis factor receptor superfamily member 11B measurement def: "The determination of the amount of tumor necrosis factor receptor superfamily member 11B in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020802 name: tumor necrosis factor receptor superfamily member 12A measurement def: "The determination of the amount of tumor necrosis factor receptor superfamily member 12A in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020803 name: tumor necrosis factor receptor superfamily member 13B measurement def: "The determination of the amount of tumor necrosis factor receptor superfamily member 13B in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020804 name: tumor necrosis factor receptor superfamily member 13C measurement def: "The determination of the amount of tumor necrosis factor receptor superfamily member 13C in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020805 name: tumor necrosis factor receptor superfamily member 14 measurement def: "The determination of the amount of tumor necrosis factor receptor superfamily member 14 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020806 name: tumor necrosis factor receptor superfamily member 17 measurement def: "The determination of the amount of tumor necrosis factor receptor superfamily member 17 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020807 name: tumor necrosis factor receptor superfamily member 18 measurement def: "The determination of the amount of tumor necrosis factor receptor superfamily member 18 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020808 name: tumor necrosis factor receptor superfamily member 19 measurement def: "The determination of the amount of tumor necrosis factor receptor superfamily member 19 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020809 name: tumor necrosis factor receptor superfamily member 1Ameasurement def: "The determination of the amount of tumor necrosis factor receptor superfamily member 1A in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020810 name: tumor necrosis factor receptor superfamily member 21 measurement def: "The determination of the amount of tumor necrosis factor receptor superfamily member 21 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020811 name: tumor necrosis factor receptor superfamily member 25 measurement def: "The determination of the amount of tumor necrosis factor receptor superfamily member 25 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020812 name: tumor necrosis factor receptor superfamily member 27 measurement def: "The determination of the amount of tumor necrosis factor receptor superfamily member 27 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020813 name: tumor necrosis factor receptor superfamily member 3 measurement def: "The determination of the amount of tumor necrosis factor receptor superfamily member 3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020814 name: tumor necrosis factor receptor superfamily member 4 measurement def: "The determination of the amount of tumor necrosis factor receptor superfamily member 4 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020815 name: tumor necrosis factor receptor superfamily member 6B measurement def: "The determination of the amount of tumor necrosis factor receptor superfamily member 6B in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020816 name: tumor necrosis factor receptor superfamily member 8 measurement def: "The determination of the amount of tumor necrosis factor receptor superfamily member 8 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020817 name: tumor-associated calcium signal transducer 2 measurement def: "The determination of the amount of tumor-associated calcium signal transducer 2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020818 name: tyrosine-protein kinase ABL1 measurement def: "The determination of the amount of tyrosine-protein kinase ABL1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020819 name: tyrosine-protein kinase BTK measurement def: "The determination of the amount of tyrosine-protein kinase BTK in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020820 name: tyrosine-protein kinase CSK measurement def: "The determination of the amount of tyrosine-protein kinase CSK in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020821 name: tyrosine-protein kinase FER measurement def: "The determination of the amount of tyrosine-protein kinase FER in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020822 name: tyrosine-protein kinase FGR measurement def: "The determination of the amount of tyrosine-protein kinase FGR in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020823 name: tyrosine-protein kinase FYN measurement def: "The determination of the amount of tyrosine-protein kinase FYN in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020824 name: tyrosine-protein kinase HCK measurement def: "The determination of the amount of tyrosine-protein kinase HCK in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020825 name: tyrosine-protein kinase JAK2 measurement def: "The determination of the amount of tyrosine-protein kinase JAK2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020826 name: tyrosine-protein kinase LCK measurement def: "The determination of the amount of tyrosine-protein kinase LCK in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020827 name: tyrosine-protein kinase lyn measurement def: "The determination of the amount of tyrosine-protein kinase LYN in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020828 name: tyrosine-protein kinase LYN, isoform b measurement def: "The determination of the amount of tyrosine-protein kinase LYN, isoform b in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020829 name: tyrosine-protein kinase receptor TYRO3 measurement def: "The determination of the amount of tyrosine-protein kinase receptor TYRO3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020830 name: tyrosine-protein kinase TEC measurement def: "The determination of the amount of tyrosine-protein kinase TEC in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020831 name: tyrosine-protein kinase transmembrane receptor ROR1 measurement def: "The determination of the amount of tyrosine-protein kinase transmembrane receptor ROR1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020832 name: tyrosine-protein kinase YES measurement def: "The determination of the amount of tyrosine-protein kinase YES in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020833 name: tyrosine-protein kinase ZAP-70 measurement def: "The determination of the amount of tyrosine-protein kinase ZAP-70 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020834 name: tyrosine-protein phosphatase non-receptor type 1 measurement def: "The determination of the amount of tyrosine-protein phosphatase non-receptor type 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020835 name: tyrosine-protein phosphatase non-receptor type 11 measurement def: "The determination of the amount of tyrosine-protein phosphatase non-receptor type 11 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020836 name: tyrosine-protein phosphatase non-receptor type 2 measurement def: "The determination of the amount of tyrosine-protein phosphatase non-receptor type 2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020837 name: tyrosine-protein phosphatase non-receptor type 6 measurement def: "The determination of the amount of tyrosine-protein phosphatase non-receptor type 6 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020838 name: ubiquitin carboxyl-terminal hydrolase isozyme L1 measurement def: "The determination of the amount of ubiquitin carboxyl-terminal hydrolase isozyme L1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020839 name: ubiquitin measurement def: "The determination of the amount of ubiquitin in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020840 name: ubiquitin-conjugating enzyme E2 L3 measurement def: "The determination of the amount of ubiquitin-conjugating enzyme E2 L3 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020841 name: ubiquitin-conjugating enzyme E2 N measurement def: "The determination of the amount of ubiquitin-conjugating enzyme E2 N in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020842 name: ubiquitin-fold modifier 1 measurement def: "The determination of the amount of ubiquitin-fold modifier 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020843 name: ubiquitin-fold modifier-conjugating enzyme 1 measurement def: "The determination of the amount of ubiquitin-fold modifier-conjugating enzyme 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020844 name: ubiquitin+1, truncated mutation for UBB measurement def: "The determination of the amount of ubiquitin+1, truncated mutation for UBB in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020845 name: vacuolar protein sorting-associated protein VTA1 homolog measurement def: "The determination of the amount of vacuolar protein sorting-associated protein VTA1 homolog in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020846 name: vascular cell adhesion protein 1 measurement def: "The determination of the amount of vascular cell adhesion protein 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020847 name: vascular endothelial growth factor A, isoform 121 measurement def: "The determination of the amount of vascular endothelial growth factor A, isoform 121 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020848 name: vascular endothelial growth factor C measurement def: "The determination of the amount of vascular endothelial growth factor C in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020849 name: vasoactive intestinal peptide measurement def: "The determination of the amount of vasoactive intestinal peptide in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020850 name: vitamin k-dependent protein S measurement def: "The determination of the amount of vitamin k-dependent protein S in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020851 name: vps10 domain-containing receptor sorcs2 measurement def: "The determination of the amount of vps10 domain-containing receptor sorcs2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020852 name: wap, kazal, immunoglobulin, kunitz and ntr domain-containing protein 1 measurement def: "The determination of the amount of wap, kazal, immunoglobulin, kunitz and ntr domain-containing protein 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020853 name: wnt inhibitory factor 1 measurement def: "The determination of the amount of wnt inhibitory factor 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020854 name: x-linked interleukin-1 receptor accessory protein-like 2 measurement def: "The determination of the amount of x-linked interleukin-1 receptor accessory protein-like 2 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020855 name: x-ray repair cross-complementing protein 6 measurement def: "The determination of the amount of x-ray repair cross-complementing protein 6 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020856 name: xaa-pro aminopeptidase 1 measurement def: "The determination of the amount of xaa-pro aminopeptidase 1 in a sample" [] xref: PMID:28240269 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020857 name: very low density lipoprotein cholesterol change measurement def: "Quantification of the change in very low density lipoprotein cholesterol levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0008317 ! very low density lipoprotein cholesterol measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020858 name: spastic paraplegia 84, autosomal recessive def: "Autosomal recessive spastic paraplegia-84 (SPG84) is characterized by onset of slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity in the first 2 decades of life. Additional features may include nystagmus, urinary urgency, joint contractures, and possible learning disabilities." [] xref: OMIM:619621 is_a: Orphanet:183500 ! Genetic neurodegenerative disease property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-01-31T14:30:59Z xsd:dateTime [Term] id: EFO:0020859 name: lipid change measurement def: "Quantification of the change in lipid levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0004529 ! lipid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020860 name: soluble CD14 measurement def: "Quantification of the circulating pattern recognition receptor CD14 in a sample such as blood plasma." [] synonym: "cluster of differentiation 14" EXACT [] synonym: "sCD14" EXACT [] xref: PMID:33910371 is_a: EFO:0007937 ! blood protein measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-02-04T09:58:22Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0020861 name: ANGPTL8 measurement def: "Quantification of the levels of ANGPTL8 protein in a sample, typically blood plasma." [] xref: PMID:33619548 is_a: EFO:0004747 ! protein measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-02-04T10:00:08Z xsd:dateTime property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0020862 name: response to verapamil def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of verapamil stimulus." [] xref: PMID:33829662 is_a: EFO:0007767 ! response to calcium channel blocker property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-02-04T10:01:22Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020863 name: major adverse cardiovascular event measurement def: "Quantification of some major cardiovascular event such as cardiovascular death, myocardial infarction, atherothrombotic stroke and repeated revascularization." [] synonym: "MACE" EXACT [] xref: PMID:34158603 is_a: EFO:0006919 ! cardiovascular event measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-02-04T10:02:48Z xsd:dateTime property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020864 name: cerebellar volume measurement def: "Quantification of the volume of the cerebellum." [] xref: PMID:35079123 is_a: EFO:0006930 ! brain volume measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-02-14T09:18:56Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020865 name: aortic measurement def: "Measurement of some parts of the aorta, including ascending aorta distensibility and area." [] synonym: "aortic diagnostic technique" EXACT [] is_a: EFO:0004298 ! cardiovascular measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-02-14T09:22:02Z xsd:dateTime property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0020866 name: high density lipoprotein particle size change measurement def: "Quantification of the change in high density lipoprotein particle size levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0008592 ! high density lipoprotein particle size measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020867 name: remnant cholesterol change measurement def: "Quantification of the change in remnant cholesterol levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0010815 ! remnant cholesterol measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020868 name: diglyceride change measurement def: "Quantification of the change in diglyceride levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0010223 ! diglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020869 name: glycerophospholipid change measurement def: "Quantification of the change in glycerophospholipid levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0007630 ! glycerophospholipid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020870 name: choline change measurement def: "Quantification of the change in choline levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0010116 ! choline measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020871 name: phosphatidylcholine change measurement def: "Quantification of the change in phosphatidylcholine levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0010226 ! phosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020872 name: sphingomyelin change measurement def: "Quantification of the change in sphingomyelin levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0010118 ! sphingomyelin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020873 name: apolipoprotein A 1 change measurement def: "Quantification of the change in apolipoprotein A 1 levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0004614 ! apolipoprotein A 1 measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020874 name: apolipoprotein B change measurement def: "Quantification of the change in apolipoprotein B levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0004615 ! apolipoprotein B measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020875 name: fatty acid change measurement def: "Quantification of the change in fatty acid levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0005110 ! fatty acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020876 name: docosahexaenoic acid change measurement def: "Quantification of the change in docosahexaenoic acid levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0007761 ! docosahexaenoic acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020877 name: linoleic acid change measurement def: "Quantification of the change in linoleic acid levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0006807 ! linoleic acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020878 name: omega-3 polyunsaturated fatty acid change measurement def: "Quantification of the change in omega-3 polyunsaturated fatty acid levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0010119 ! omega-3 polyunsaturated fatty acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020879 name: omega-6 polyunsaturated fatty acid change measurement def: "Quantification of the change in omega-6 polyunsaturated fatty acid levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0005680 ! omega-6 polyunsaturated fatty acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020880 name: polyunsaturated fatty acid change measurement def: "Quantification of the change in polyunsaturated fatty acid levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0010733 ! polyunsaturated fatty acid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020881 name: glucose change measurement def: "Quantification of the change in glucose levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0004468 ! glucose measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020882 name: lactate change measurement def: "Quantification of the change in lactate levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0007745 ! lactate measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020883 name: citrate change measurement def: "Quantification of the change in citrate levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0010114 ! citrate measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020884 name: alanine change measurement def: "Quantification of the change in alanine levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0009765 ! alanine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020885 name: glutamine change measurement def: "Quantification of the change in glutamine levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0009768 ! glutamine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020886 name: histidine change measurement def: "Quantification of the change in histidine levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0009769 ! histidine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020887 name: isoleucine change measurement def: "Quantification of the change in isoleucine levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0009793 ! isoleucine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020888 name: leucine change measurement def: "Quantification of the change in leucine levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0009770 ! leucine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020889 name: valine change measurement def: "Quantification of the change in valine levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0009792 ! valine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020890 name: phenylalanine change measurement def: "Quantification of the change in phenylalanine levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0005001 ! phenylalanine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020891 name: tyrosine change measurement def: "Quantification of the change in tyrosine levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0005058 ! tyrosine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020892 name: acetate change measurement def: "Quantification of the change in acetate levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0010112 ! acetate measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020893 name: 3-hydroxybutyrate change measurement def: "Quantification of the change in 3-hydroxybutyrate levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0010982 ! 3-hydroxybutyrate measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020894 name: creatinine change measurement def: "Quantification of the change in creatinine levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0004518 ! creatinine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020895 name: serum albumin change measurement def: "Quantification of the change in serum albumin levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0004535 ! serum albumin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020896 name: glycoprotein change measurement def: "Quantification of the change in glycoprotein levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0004555 ! glycoprotein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020897 name: citrus intake measurement def: "Quantification of some aspect of citrus consumption such as frequency or quantity." [] is_a: EFO:0008111 ! diet measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-03-02T10:38:53Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0020898 name: skeletal age def: "An indication of skeletal growth potential based on skeletal maturity indicators, such as radiologic imaging of growth plates." [] synonym: "bone age" EXACT [] synonym: "skeletal maturity" EXACT [] xref: NCIT:C156787 is_a: EFO:0006887 ! radiologic finding property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-03-02T08:29:40Z xsd:dateTime property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0020899 name: filaggrin gene expression measurement def: "Quantification of the expression of FLG in a cell, tissue or sample." [] synonym: "FLG gene expression measurement" EXACT [] is_a: EFO:0600068 ! gene expression measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-03-02T09:22:57Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0020900 name: thigh muscle fat infiltration measurement def: "Quantification of some aspect of thigh muscle fat infiltration." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36402844"} is_a: EFO:0020100 ! thigh muscle measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2023-04-14T12:03:20Z xsd:dateTime [Term] id: EFO:0020901 name: chylomicron change measurement def: "Quantification of the change in chylomicron levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0008596 ! chylomicron measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020902 name: bombay phenotype def: "Two main types of recessive c phenotypes are recognized: (1) the nonsecretor classic Bombay type (h null and se (FUT2; 182100) null) with H deficiency of both red cells and saliva, and (2) the secretor Bombay type (h null, Se heterozygous) with H deficiency in red cells but normal ABH in secretions. The latter has been designated para-Bombay phenotype. Under this 2-locus model, the H blood group locus determines expression of the H antigen (as well as the A and/or B antigens) in the erythroid lineage, whereas the SE locus controls H expression (and thus A or B antigen expression) in a variety of secretory epithelia and in saliva. Bombay and para-Bombay individuals display no apparent deleterious phenotype except in circumstances requiring blood transfusion, wherein they are cross-match incompatible with all donors except other H-deficient individuals." [] xref: OMIM:616754 is_a: EFO:0600058 ! blood group property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-01-31T14:31:44Z xsd:dateTime [Term] id: EFO:0020903 name: phospholipid change measurement def: "Quantification of the change in phospholipid levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0004639 ! phospholipid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020904 name: esterified cholesterol change measurement def: "Quantification of the change in esterified cholesterol levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0008589 ! esterified cholesterol measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020905 name: free cholesterol change measurement def: "Quantification of the change in free cholesterol levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0008591 ! free cholesterol measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020906 name: intermediate density lipoprotein change measurement def: "Quantification of the change in intermediate density lipoprotein levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0008595 ! intermediate density lipoprotein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020907 name: very low density lipoprotein particle size change measurement def: "Quantification of the change in very low density lipoprotein particle size levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0008594 ! very low density lipoprotein particle size measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020908 name: low density lipoprotein particle size change measurement def: "Quantification of the change in low density lipoprotein particle size levels in an individual over time, e.g. over the course of several hours after a high-fat meal." [] xref: PMID:34610981 is_a: EFO:0008593 ! low density lipoprotein particle size measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0020909 name: impaired psychomotor skills def: "Psychomotor impairment occurs when there is a disruption in the connections made between mental and muscle functions." [] synonym: "impaired psychomotor performance" EXACT [] synonym: "psychomotor skills impaired" EXACT [] xref: MedDRA:10049215 xref: SCTID:416909000 is_a: HP:0002275 ! Poor motor coordination property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-03-14T13:53:56Z xsd:dateTime property_value: IAO:0000117 "Nicolas Bosc" xsd:string [Term] id: EFO:0020910 name: thermal burn def: "Thermal burns fall into six categories, including scalds, thermal contact burns, electrical burns, chemical burns, radiation burns, and burns caused by fire." [] xref: MedDRA:10053615 xref: SCTID:105594005 is_a: EFO:0009516 ! burn property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-03-14T13:56:17Z xsd:dateTime property_value: IAO:0000117 "Nicolas Bosc" xsd:string [Term] id: EFO:0020911 name: overdose def: "An excessive and dangerous dose of a drug." [] xref: MedDRA:10033295 xref: NCIT:C50873 xref: SCTID:1149222004 is_a: EFO:0011049 ! drug misuse property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-03-14T13:58:24Z xsd:dateTime property_value: IAO:0000117 "Nicolas Bosc" xsd:string [Term] id: EFO:0020912 name: decreased kidney function def: "Reduced ability of the kidney to perform its functions." [] synonym: "Decreased renal function" EXACT [] xref: MedDRA:10017474 xref: SCTID:76114004 xref: SNOMEDCT:76114004 is_a: HP:0000077 ! Abnormality of the kidney property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-03-14T14:04:51Z xsd:dateTime property_value: IAO:0000117 "Nicolas Bosc" xsd:string [Term] id: EFO:0020913 name: electrocardiogram repolarisation abnormality def: "Indicates a measured cardiac repolarisation outside of the reference range." [] xref: MedDRA:10052464 is_a: HP:0003115 ! Abnormal EKG property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-03-14T14:13:05Z xsd:dateTime property_value: IAO:0000117 "Nicolas Bosc" xsd:string [Term] id: EFO:0020914 name: disorientation def: "Inability to correctly acknowledge the current time, place, one's role, and personal identity." [] synonym: "disorientated" EXACT [] xref: MedDRA:10013395 xref: SCTID:62476001 is_a: MONDO:0002025 ! psychiatric disorder property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-03-14T14:14:30Z xsd:dateTime property_value: IAO:0000117 "Nicolas Bosc" xsd:string [Term] id: EFO:0020915 name: uterine hyperstimulation def: "Uterine hyperstimulation or hypertonic uterine dysfunction is a potential complication of labor induction when the contraction frequency exceeds more than five in a 10-minute time frame or as contractions exceeding more than two minutes in duration." [] synonym: "hypertonic uterine dysfunction" EXACT [] xref: MedDRA:10066288 xref: SCTID:34981006 is_a: MONDO:0002654 ! uterine disorder property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-03-14T14:38:09Z xsd:dateTime property_value: IAO:0000117 "Nicolas Bosc" xsd:string [Term] id: EFO:0020916 name: performance enhancing product use def: "When a drug is administed to inhibit or enhance sporting performance." [] xref: MedDRA:10079763 is_a: EFO:0011049 ! drug misuse property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-03-14T14:39:52Z xsd:dateTime property_value: IAO:0000117 "Nicolas Bosc" xsd:string [Term] id: EFO:0020917 name: oculomucocutaneous syndrome def: "Oculomucocutaneous syndrome is characterized by keratoconjunctivitis sicca (dry eyes) and the resulting scarring, fibrosis, metaplasia, and shrinkage of the conjunctiva." [] xref: MedDRA:10030081 is_a: EFO:0003966 ! eye disease property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-03-14T14:41:09Z xsd:dateTime property_value: IAO:0000117 "Nicolas Bosc" xsd:string [Term] id: EFO:0020918 name: non-allergic anaphylaxis def: "Anaphylactoid reaction or non-allergic anaphylaxis are immediate systemic reactions that mimic anaphylaxis but are not caused by IgE-mediated immune responses." [] synonym: "anaphylactoid reaction" EXACT [] xref: MedDRA:10002216 xref: SCTID:35001004 is_a: MONDO:0020683 ! acute disease is_a: MONDO:0100053 ! anaphylaxis property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-03-14T14:58:49Z xsd:dateTime property_value: IAO:0000117 "Nicolas Bosc" xsd:string [Term] id: EFO:0020919 name: subacute myelo-opticoneuropathy def: "Subacute myelo-optico-neuropathy (SMON) is a neuro-degenerative disorder caused by poisoning due to over-dose and prolonged oral administration of clioquinol. This was shown by an epidemiological study in Japan in 1971, and confirmed by a series of animal experiments. It is characterized by symptoms of severe myelo-neuropathy: painful dysesthesia and paresthesia (such as tingling, stinging, fastening, cold, and sticking sensations) initiating in and moving upwards from the feet, loss of sensations, gait disturbance with ataxic and spastic paraplegia, autonomic disorders, and visual impairment, which almost invariably followed a severe abdominal pain (and sometimes led to loss of consciousness and opisthotonus), constipation, and diarrhea." [] synonym: "SMON" EXACT [] xref: MedDRA:10058009 is_a: EFO:0000618 ! nervous system disease is_a: EFO:0003966 ! eye disease property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-03-14T15:01:03Z xsd:dateTime property_value: IAO:0000117 "Nicolas Bosc" xsd:string [Term] id: EFO:0020920 name: hepatic lesion def: "Liver lesions are abnormal growths of hepatic cells that may be noncancerous (benign) or cancerous." [] xref: MedDRA:10061998 is_a: EFO:0001421 ! liver disease property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-03-14T15:11:03Z xsd:dateTime property_value: IAO:0000117 "Nicolas Bosc" xsd:string [Term] id: EFO:0020921 name: hemorrhagic stroke def: "A stroke caused by a bleed on the brain." [] synonym: "haemorrhagic stroke" EXACT [] xref: MedDRA:10019016 is_a: EFO:0000712 ! stroke property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-03-14T15:12:03Z xsd:dateTime property_value: IAO:0000117 "Nicolas Bosc" xsd:string [Term] id: EFO:0020922 name: hospitalisation def: "Admission to hospital for treatment." [] xref: MedDRA:10054112 is_a: EFO:0000727 ! treatment property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-03-14T15:13:31Z xsd:dateTime property_value: IAO:0000117 "Nicolas Bosc" xsd:string [Term] id: EFO:0020923 name: accidental overdose def: "Overdose following the injestion of a medicine by mistake, or if the wrong medicine is taken, or if too much of the medicine is taken by mistake." [] xref: MedDRA:10000381 is_a: EFO:0020911 ! overdose property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-03-14T15:27:40Z xsd:dateTime property_value: IAO:0000117 "Nicolas Bosc" xsd:string [Term] id: EFO:0020924 name: intentional overdose def: "Purposely self-inflicted medicine overdose" [] xref: MedDRA:10022523 is_a: EFO:0020911 ! overdose property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-03-14T15:28:28Z xsd:dateTime property_value: IAO:0000117 "Nicolas Bosc" xsd:string [Term] id: EFO:0020925 name: angina unstable def: "Similar to angina pectoris (stable angina) except it does not follow a pattern and can happen without physical exertion and does not go away with rest or medicine." [] xref: MedDRA:10002388 is_a: HP:0001626 ! Abnormality of the cardiovascular system property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-03-14T15:29:54Z xsd:dateTime property_value: IAO:0000117 "Nicolas Bosc" xsd:string [Term] id: EFO:0020926 name: noninfective encephalitis def: "Encephalitis not caused by infection" [] xref: MedDRA:10074712 is_a: MONDO:0019956 ! encephalitis property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-03-14T15:31:26Z xsd:dateTime property_value: IAO:0000117 "Nicolas Bosc" xsd:string [Term] id: EFO:0020927 name: skin reaction xref: MedDRA:10040914 is_a: EFO:0000701 ! skin disease property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-03-14T15:34:35Z xsd:dateTime property_value: IAO:0000117 "Nicolas Bosc" xsd:string [Term] id: EFO:0020928 name: occular toxicity def: "Toxicity that causes injury to eye." [] xref: MedDRA:10061137 is_a: EFO:0003966 ! eye disease is_a: EFO:0011061 ! toxicity property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-03-14T15:36:32Z xsd:dateTime property_value: IAO:0000117 "Nicolas Bosc" xsd:string [Term] id: EFO:0020929 name: electrocardiogram PR prolongation def: "Increased time for the interval between the beginning of the P wave to the beginning of the QRS complex as measured by electrocardiogram (EKG)" [] xref: MedDRA:10053657 is_a: EFO:0004462 ! PR interval is_a: EFO:0005095 ! PR segment property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-03-14T15:52:59Z xsd:dateTime property_value: IAO:0000117 "Nicolas Bosc" xsd:string [Term] id: EFO:0020930 name: immune-mediated adverse reaction def: "Immunotherapies activate the immune response and may lead to immune-mediated adverse reactions. These are most commonly gastrointestinal, respiratory, endocrine or dermatologic." [] synonym: "IMAR" EXACT [] xref: MedDRA:10077665 is_a: EFO:0009658 ! adverse effect property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-03-14T16:03:52Z xsd:dateTime property_value: IAO:0000117 "Nicolas Bosc" xsd:string [Term] id: EFO:0020931 name: posterior thigh muscle volume def: "Quantification of some aspect of the posterior thigh muscle volume." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36402844"} is_a: EFO:0020107 ! thigh muscle volume property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-04-14T12:04:15Z xsd:dateTime [Term] id: EFO:0020932 name: galectin-1 measurement def: "Quantification of the amount of galectin-1 in a sample." [] xref: PMID:34743218 is_a: EFO:0007937 ! blood protein measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-03-21T09:44:17Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0020933 name: HIV resevoir measurement def: "A measurement of HIV reservoir in a sample." [] xref: PMID:34781942 is_a: EFO:0006843 ! infectious disease biomarker property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-03-21T12:20:06Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0020934 name: posterior thigh muscle fat infiltration measurement def: "Quantification of some aspect of the posterior thigh muscle fat infiltration." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36402844"} is_a: EFO:0020900 ! thigh muscle fat infiltration measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-04-14T12:04:45Z xsd:dateTime [Term] id: EFO:0020935 name: anterior thigh muscle volume def: "Quantification of some aspect of the anterior thigh muscle volume." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36402844"} is_a: EFO:0020107 ! thigh muscle volume property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-04-14T12:05:29Z xsd:dateTime [Term] id: EFO:0020936 name: anterior thigh muscle fat infiltration measurement def: "Quantification of some aspect of the anterior thigh muscle fat infiltration." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36402844"} is_a: EFO:0020900 ! thigh muscle fat infiltration measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-04-14T12:05:54Z xsd:dateTime [Term] id: EFO:0020937 name: inherited macular dystrophy xref: Orphanet:519302 is_a: MONDO:0019118 ! inherited retinal dystrophy property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-04-11T13:19:03Z xsd:dateTime [Term] id: EFO:0020938 name: left ventricle sphericity index def: "The sphericity index is defined as the ratio of LV short axis length divided by LV long axis length." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36996817"} is_a: EFO:0004298 ! cardiovascular measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-05-19T09:19:14Z xsd:dateTime [Term] id: EFO:0020939 name: right ventricular function def: "The hemodynamic and electrophysiological action of the right heart ventricle. Its measurement is an important aspect of the clinical evaluation of patients with heart disease to determine the effects of the disease on cardiac performance." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:37126556"} is_a: BFO:0000034 ! function property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-06-15T13:04:59Z xsd:dateTime [Term] id: EFO:0020940 name: platelet function test def: "An assay that measures the ability of platelets to aggregate and promote clotting in a sample of blood." [] xref: PMID:34904537 xref: SNOMEDCT:80329005 is_a: EFO:0005036 ! platelet measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-04-14T09:01:21Z xsd:dateTime [Term] id: EFO:0020941 name: lysophosphatidylcholine 15:0 measurement def: "The quantification of lysophosphatidylcholine 15:0 levels in a sample." [] synonym: "LysoPC(15:0)" EXACT [] xref: PMID:34801968 is_a: EFO:0010224 ! lysophosphatidylcholine measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-14T09:05:42Z xsd:dateTime [Term] id: EFO:0020942 name: propionylcarnitine measurement def: "Quantification of propionylcarnitine in a sample." [] xref: PMID:34801968 is_a: EFO:0005278 ! cardiovascular disease biomarker measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-14T09:09:15Z xsd:dateTime [Term] id: EFO:0020943 name: cholesterol:total lipids ratio def: "Quantification of the ratio of cholesterol to total lipids in a sample." [] xref: PMID:35213538 is_a: EFO:0004529 ! lipid measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-14T10:29:54Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0020944 name: cholesteryl esters:total lipids ratio def: "Quantification of the ratio of cholesteryl esters to total lipids in a sample." [] xref: PMID:35213538 is_a: EFO:0004529 ! lipid measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-14T10:30:35Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0020945 name: free cholesterol:total lipids ratio def: "Quantification of the ratio of free cholesterol to total lipids in a sample." [] xref: PMID:35213538 is_a: EFO:0004529 ! lipid measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-14T10:31:59Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0020946 name: phospholipids:total lipids ratio def: "Quantification of the ratio of phospholipids to total lipids in a sample." [] xref: PMID:35213538 is_a: EFO:0004529 ! lipid measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-14T10:32:37Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0020947 name: triglycerides:total lipids ratio def: "Quantification of the ratio of triglycerides to total lipids in a sample." [] xref: PMID:35213538 is_a: EFO:0004529 ! lipid measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-14T10:33:18Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0020948 name: salicylic acid measurement def: "Quantification of the amount of salicylic acid in a sample." [] xref: PMID:34836419 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-14T11:39:57Z xsd:dateTime [Term] id: EFO:0020949 name: clonal hematopoiesis mutation measurement def: "Quantification of the number of known clonal hematopoiesis mutations in a sample." [] xref: PMID:34815255 is_a: EFO:0001444 ! measurement intersection_of: EFO:0001444 ! measurement intersection_of: IAO:0000136 EFO:0010819 ! is_about clonal hematopoiesis property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-14T12:06:26Z xsd:dateTime [Term] id: EFO:0020950 name: apolipoprotein C measurement def: "Quantification of the amount of apolipoprotein C in a sample." [] xref: PMID:35264221 is_a: EFO:0007937 ! blood protein measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-14T16:44:23Z xsd:dateTime property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0020951 name: apolipoprotein H measurement def: "Quantification of the amount of apolipoprotein H in a sample." [] xref: PMID:35264221 is_a: EFO:0007937 ! blood protein measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-14T16:45:11Z xsd:dateTime property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0020952 name: dopamine beta-hydroxylase measurement def: "Quantification of the amount of dopamine beta-hydroxylase in a sample." [] synonym: "DPH measurement" EXACT [] xref: PMID:35264221 is_a: EFO:0007937 ! blood protein measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-14T16:46:42Z xsd:dateTime property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0020953 name: omentin measurement def: "Quantification of the amount of omentin in a sample." [] synonym: "intelectin-1 measurement" EXACT [] xref: PMID:35264221 is_a: EFO:0007937 ! blood protein measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-14T16:53:08Z xsd:dateTime property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0020954 name: pigement epithleium-derived factor (PEDF) measurement def: "Quantification of the amount of pigement epithleium-derived factor in a sample." [] xref: NCIT:C101645 xref: PMID:35264221 is_a: EFO:0007937 ! blood protein measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-14T16:54:41Z xsd:dateTime property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0020955 name: beta-microseminoprotein measurement def: "Quantification of the amount of beta-microseminoprotein in a sample." [] synonym: "PSP94 measurement" EXACT [] xref: PMID:35264221 is_a: EFO:0007937 ! blood protein measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-14T16:55:20Z xsd:dateTime property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0020956 name: pancreatic secretory trypsin inhibitor protein measurement def: "Quantification of the amount of pancreatic secretory trypsin inhibitor protein in a sample." [] synonym: "serine protease inhibitor Kazal-type 1 measurement" EXACT [] synonym: "TATI measurement" EXACT [] xref: PMID:35264221 is_a: EFO:0007937 ! blood protein measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-14T16:55:49Z xsd:dateTime property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0020957 name: tetranectin measurement def: "Quantification of the amount of tetranectin in a sample." [] synonym: "C-type lectin domain family 3 member B measurement" EXACT [] xref: PMID:35264221 is_a: EFO:0007937 ! blood protein measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-14T16:56:45Z xsd:dateTime property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0020958 name: total brassicasterol measurement def: "Quantification of the amount of total brassicasterol in a sample. Brassicasterol is a phytosterol whose chemical structure is similar to that of cholesterol." [] xref: PMID:35013273 is_a: EFO:0004862 ! phytosterol measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-16T13:18:27Z xsd:dateTime property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0020959 name: free brassicasterol measurement def: "Quantification of the amount of free brassicasterol in a sample. Brassicasterol is a phytosterol whose chemical structure is similar to that of cholesterol." [] xref: PMID:35013273 is_a: EFO:0004862 ! phytosterol measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-19T08:07:00Z xsd:dateTime property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0020960 name: esterified brassicasterol measurement def: "Quantification of the amount of esterified brassicasterol in a sample. Brassicasterol is a phytosterol whose chemical structure is similar to that of cholesterol." [] xref: PMID:35013273 is_a: EFO:0004862 ! phytosterol measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-19T08:08:13Z xsd:dateTime property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0020961 name: free lanosterol measurement def: "Quantification of the amount of free lanosterol in a sample." [] xref: PMID:35013273 is_a: EFO:0004862 ! phytosterol measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-19T08:09:33Z xsd:dateTime property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0020962 name: total campesterol measurement def: "Quantification of the amount of total campesterol in a sample. Campesterol is a phytosterol (molecular formula C28H48O) whose chemical structure is similar to that of cholesterol." [] xref: PMID:35013273 is_a: EFO:0020008 ! campesterol measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-19T08:10:09Z xsd:dateTime property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0020963 name: free campesterol measurement def: "Quantification of the amount of free campesterol in a sample. Campesterol is a phytosterol (molecular formula C28H48O) whose chemical structure is similar to that of cholesterol." [] xref: PMID:35013273 is_a: EFO:0020008 ! campesterol measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-19T08:10:46Z xsd:dateTime property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0020964 name: esterified campesterol measurement def: "Quantification of the amount of esterified campesterol in a sample. Campesterol is a phytosterol (molecular formula C28H48O) whose chemical structure is similar to that of cholesterol." [] xref: PMID:35013273 is_a: EFO:0020008 ! campesterol measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-19T08:11:59Z xsd:dateTime property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0020965 name: total sitosterol measurement def: "Quantification of the amount of total sitosterol in a sample. Sitosterol is a member of the class of phytosterols that is stigmast-5-ene substituted by a beta-hydroxy group at position 3." [] xref: PMID:35013273 is_a: EFO:0004862 ! phytosterol measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-19T08:13:06Z xsd:dateTime property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0020966 name: free sitosterol measurement def: "Quantification of the amount of free sitosterol in a sample. Sitosterol is a member of the class of phytosterols that is stigmast-5-ene substituted by a beta-hydroxy group at position 3." [] xref: PMID:35013273 is_a: EFO:0004862 ! phytosterol measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-19T08:13:31Z xsd:dateTime property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0020967 name: esterified sitosterol measurement def: "Quantification of the amount of esterified sitosterol in a sample. Sitosterol is a member of the class of phytosterols that is stigmast-5-ene substituted by a beta-hydroxy group at position 3." [] xref: PMID:35013273 is_a: EFO:0004862 ! phytosterol measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-19T08:14:23Z xsd:dateTime property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0020968 name: total stigmasterol measurement def: "Quantification of the amount of total stigmasterol in a sample. Stigmasterol is a 3beta-sterol that consists of 3beta-hydroxystigmastane having double bonds at the 5,6- and 22,23-positions." [] xref: PMID:35013273 is_a: EFO:0004862 ! phytosterol measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-19T08:15:01Z xsd:dateTime property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0020969 name: free stigmasterol measurement def: "Quantification of the amount of free stigmasterol in a sample. Stigmasterol is a 3beta-sterol that consists of 3beta-hydroxystigmastane having double bonds at the 5,6- and 22,23-positions." [] xref: PMID:35013273 is_a: EFO:0004862 ! phytosterol measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-19T08:15:43Z xsd:dateTime property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0020970 name: esterified stigmasterol measurement def: "Quantification of the amount of esterified stigmasterol in a sample. Stigmasterol is a 3beta-sterol that consists of 3beta-hydroxystigmastane having double bonds at the 5,6- and 22,23-positions." [] xref: PMID:35013273 is_a: EFO:0004862 ! phytosterol measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-19T08:16:07Z xsd:dateTime property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0020971 name: internalizing disorder def: "A type of mental or behavioral disorder, typically in children and young adults, with symptoms including depression, anxiety and withdrawal." [] synonym: "internalizing behavior" EXACT [] synonym: "internalizing symptoms" EXACT [] xref: PMID:22070805 xref: PMID:35365103 is_a: EFO:0000677 ! mental or behavioural disorder property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-28T08:42:20Z xsd:dateTime [Term] id: EFO:0020972 name: revision of total knee arthroplasty def: "A surgical procedure of the knee joint in which some or all of the parts of the original prosthesis are removed and replaced for the purpose of correcting any problems that have developed since the initial surgery, such as aseptic loosening." [] xref: NCIT:C51567 xref: PMID:34982741 is_a: EFO:0010726 ! total joint arthroplasty property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-28T09:32:57Z xsd:dateTime [Term] id: EFO:0020973 name: revision of total hip arthroplasty def: "A surgical procedure of the hip joint in which some or all of the parts of the original prosthesis are removed and replaced for the purpose of correcting any problems that have developed since the initial surgery, such as aseptic loosening." [] xref: PMID:34982741 is_a: EFO:0010726 ! total joint arthroplasty property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-28T09:34:07Z xsd:dateTime [Term] id: EFO:0020974 name: revision of total joint arthroplasty def: "A surgical procedure of a joint in which some or all of the parts of the original prosthesis are removed and replaced for the purpose of correcting any problems that have developed since the initial surgery, such as aseptic loosening." [] xref: PMID:34982741 is_a: EFO:0010726 ! total joint arthroplasty property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-28T09:34:30Z xsd:dateTime [Term] id: EFO:0020975 name: total knee arthroplasty def: "A surgical procedure in which the knee joint is replaced by a prosthetic implant." [] xref: PMID:34982741 is_a: EFO:0002571 ! medical procedure property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-04-28T09:35:11Z xsd:dateTime [Term] id: EFO:0020976 name: response to steroid def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of steroids." [] xref: PMID:34850884 is_a: GO:0009410 ! response to xenobiotic stimulus relationship: IAO:0000136 CHEBI:35341 ! is_about steroid property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-28T10:07:06Z xsd:dateTime [Term] id: EFO:0020977 name: occupational attainment def: "A measure of occupational attainment through eg. hierarchical categorisation using the Standard Occupational Classification (SOC) system." [] xref: PMID:34613391 is_a: EFO:0008354 ! cognitive function measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-29T09:18:03Z xsd:dateTime [Term] id: EFO:0020978 name: encounter with health service for breast reconstruction following mastectomy def: "Encounter with a health service for surgical reconstruction of the breast following mastectomy." [] synonym: "mammoplasty" EXACT [] xref: ICD10:Z42.1 xref: NCIT:C15354 is_a: EFO:0009786 ! encounter with health service property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-04-29T10:12:41Z xsd:dateTime [Term] id: EFO:0020979 name: digestive system surgery def: "Surgery performed on any part of the digestive system." [] xref: ICD10:Z90.4 xref: NCIT:C15330 is_a: EFO:0002571 ! medical procedure property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-29T12:17:21Z xsd:dateTime [Term] id: EFO:0020980 name: radiation exposure def: "Exposure to radioactive materials or ionizing radiation." [] xref: ICD10:Z92.3 xref: NCIT:C61398 is_a: EFO:0008360 ! environmental exposure measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-29T13:45:14Z xsd:dateTime [Term] id: EFO:0020981 name: dependence on enabling machines and devices def: "Dependence on enabling machines and devices, such as respirator, renal dialysis or wheelchair." [] xref: ICD10:Z99 xref: NCIT:C171225 xref: PMID:34662886 is_a: EFO:0002571 ! medical procedure property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-29T14:33:02Z xsd:dateTime [Term] id: EFO:0020982 name: encounter with health service for adjustment and management of implanted device def: "Encounter with a health service for adjustment and management of an implanted device, such as cardiac pacemaker or infusion pump." [] xref: ICD10:Z45 is_a: EFO:0009786 ! encounter with health service property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-04-29T15:12:29Z xsd:dateTime [Term] id: EFO:0020983 name: diffuse midline glioma def: "A diffuse glioma that arises from the midline structures of the central nervous system. The majority of these tumors are found in the brainstem." [] {http://www.ebi.ac.uk/efo/definition_citation="NCIT:C182151"} xref: NCIT:C182151 is_a: MONDO:0100342 ! malignant glioma property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2023-08-10T09:46:43Z xsd:dateTime [Term] id: EFO:0020984 name: skin sensitization def: "An immunological response to previous exposure to a substance which results in an inflammatory skin reaction." [] synonym: "skin sensitisation" EXACT [] xref: ENM:0000034 xref: MedDRA:10070835 is_a: EFO:1000636 ! inflammatory skin disease property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-05-10T12:58:45Z xsd:dateTime [Term] id: EFO:0020985 name: central nervous system embryonal neoplasm def: "A malignant neoplasm of embryonal origin, arising from the central nervous system. It usually affects children. Representative examples include ependymoblastoma, medulloblastoma, and atypical teratoid/rhabdoid tumor." [] {http://www.ebi.ac.uk/efo/definition_citation="NCIT:C6990"} synonym: "Central Nervous System Embryonal Tumor" EXACT [] synonym: "CNS Embryonal Neoplasm" EXACT [] synonym: "CNS Embryonal Tumor" EXACT [] xref: NCIT:C6990 is_a: EFO:0000326 ! central nervous system cancer property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2023-08-10T09:58:50Z xsd:dateTime [Term] id: EFO:0020986 name: response to ustekinumab def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a ustekinumab stimulus. Ustekinumab is a human immunoglobulin monoclonal antibody, used in the treatment of eg. psoriasis." [] xref: PMID:35154085 is_a: GO:0009410 ! response to xenobiotic stimulus property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-05-10T14:39:20Z xsd:dateTime [Term] id: EFO:0020987 name: mastectomy def: "Surgical removal of the breast." [] xref: ICD10:Z90.1 xref: NCIT:C15277 is_a: EFO:0002571 ! medical procedure property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-05-10T15:06:57Z xsd:dateTime [Term] id: EFO:0020988 name: blood transfusion def: "The injection of whole blood or a blood component directly into the bloodstream" [] xref: ICD10:Z51.3 xref: NCIT:C15192 is_a: EFO:0002571 ! medical procedure property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-05-10T16:15:20Z xsd:dateTime [Term] id: EFO:0020989 name: bone marrow transplantation def: "A procedure to replace diseased bone marrow with transplanted healthy bone marrow cells." [] synonym: "BMT" EXACT [] xref: NCIT:C15194 xref: PMID:35379913 is_a: EFO:0002571 ! medical procedure property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-05-11T09:19:53Z xsd:dateTime [Term] id: EFO:0020990 name: arginine measurement def: "Quanitification of argininine levels in a sample." [] xref: PMID:35016259 is_a: EFO:0005134 ! amino acid measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-05-25T11:57:27Z xsd:dateTime [Term] id: EFO:0020991 name: ethanolamine measurement xref: PMID:35016259 xref: Quantification of ethanolamine in a sample. is_a: EFO:0001444 ! measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-05-25T12:00:29Z xsd:dateTime [Term] id: EFO:0020992 name: alpha-amino-N-butyric acid measurement def: "Quantification of alpha-amino-N-butyric acid in a sample." [] xref: PMID:35016259 is_a: EFO:0001444 ! measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-05-25T12:01:08Z xsd:dateTime [Term] id: EFO:0020993 name: response to acamprosate def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of acamprosate." [] xref: PMID:35016259 is_a: GO:0009410 ! response to xenobiotic stimulus property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-05-25T12:01:41Z xsd:dateTime [Term] id: EFO:0020994 name: cancer antigen 50 measurement def: "Quantification of the amount of cancer antigen 50 in a sample, typically serum." [] synonym: "CA 50 measurement" EXACT [] xref: PMID:35144566 is_a: EFO:0005127 ! cancer biomarker measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-05-25T15:23:23Z xsd:dateTime [Term] id: EFO:0020995 name: squamous cell carcinoma antigen measurement def: "Quantification of the amount of squamous cell carcinoma antigen in a sample." [] synonym: "SCCA measurement" EXACT [] xref: PMID:35144566 is_a: EFO:0005127 ! cancer biomarker measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-05-25T15:24:03Z xsd:dateTime [Term] id: EFO:0020996 name: response to methazolamide def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of methazolamide, a systemic carbonic anhydrase inhibitor, commonly used to treat glaucoma." [] xref: PMID:35122707 is_a: GO:0009410 ! response to xenobiotic stimulus property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-05-26T09:20:52Z xsd:dateTime [Term] id: EFO:0020997 name: response to ondansetron def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ondansetron stimulus, an antiemetic used for the treatment of nausea and vomiting." [] xref: PMID:35149390 is_a: GO:0009410 ! response to xenobiotic stimulus property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-05-26T15:40:12Z xsd:dateTime [Term] id: EFO:0020998 name: sarilumab def: "A recombinant, human immunoglobulin (IgG) monoclonal antibody targeting the interleukin 6 receptor (IL-6R), with potential anti-inflammatory activity." [] synonym: "disease modifying antirheumatic drug" EXACT [] synonym: "DMARD" EXACT [] synonym: "IL-6 receptor antagonist" EXACT [] synonym: "interleukin-6 receptor antagonist" EXACT [] synonym: "Kevzara" EXACT [] xref: NCIT:C152302 is_a: CHEBI:35842 ! antirheumatic drug property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-06-07T12:36:17Z xsd:dateTime [Term] id: EFO:0020999 name: 2-hydroxybutyrate measurement def: "Quantification of the amount of 2-hydroxybutyrate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021000 name: cysteine measurement def: "Quantification of the amount of cysteine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021001 name: cysteine-glutathione disulfide measurement def: "Quantification of the amount of cysteine-glutathione disulfide in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021002 name: N-acetylglycine measurement def: "Quantification of the amount of N-acetylglycine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021003 name: 4-acetamidobutanoate measurement def: "Quantification of the amount of 4-acetamidobutanoate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021004 name: 3-methylhistidine measurement def: "Quantification of the amount of 3-methylhistidine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021005 name: glutaroyl carnitine measurement def: "Quantification of the amount of glutaroyl carnitine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021006 name: pipecolate measurement def: "Quantification of the amount of pipecolate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021007 name: 3-3-hydroxyphenylpropionate measurement def: "Quantification of the amount of 3-3-hydroxyphenylpropionate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021008 name: 3- 4-hydroxyphenyl lactate measurement def: "Quantification of the amount of 3- 4-hydroxyphenyl lactate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021009 name: 3-methoxytyrosine measurement def: "Quantification of the amount of 3-methoxytyrosine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021010 name: 3-phenylpropionate hydrocinnamate measurement def: "Quantification of the amount of 3-phenylpropionate hydrocinnamate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021011 name: phenol sulfate measurement def: "Quantification of the amount of phenol sulfate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021012 name: phenylacetate measurement def: "Quantification of the amount of phenylacetate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021013 name: phenylacetylglutamine measurement def: "Quantification of the amount of phenylacetylglutamine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021014 name: C-glycosyltryptophan measurement def: "Quantification of the amount of C-glycosyltryptophan in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021015 name: indoleacetate measurement def: "Quantification of the amount of indoleacetate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021016 name: indolepropionate measurement def: "Quantification of the amount of indolepropionate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021017 name: tryptophan betaine measurement def: "Quantification of the amount of tryptophan betaine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021018 name: homocitrulline measurement def: "Quantification of the amount of homocitrulline in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021019 name: 2-methylbutyroylcarnitine measurement def: "Quantification of the amount of 2-methylbutyroylcarnitine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021020 name: 3-methyl-2-oxobutyrate measurement def: "Quantification of the amount of 3-methyl-2-oxobutyrate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021021 name: 3-methyl-2-oxovalerate measurement def: "Quantification of the amount of 3-methyl-2-oxovalerate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021022 name: 4-methyl-2-oxopentanoate measurement def: "Quantification of the amount of 4-methyl-2-oxopentanoate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021023 name: isobutyrylcarnitine measurement def: "Quantification of the amount of isobutyrylcarnitine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021024 name: levulinate 4-oxovalerate measurement def: "Quantification of the amount of levulinate 4-oxovalerate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021025 name: erythronate measurement def: "Quantification of the amount of erythronate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021026 name: erythrose measurement def: "Quantification of the amount of erythrose in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021027 name: mannitol measurement def: "Quantification of the amount of mannitol in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021028 name: 1,6-anhydroglucose measurement def: "Quantification of the amount of 1,6-anhydroglucose in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021029 name: glycerate measurement def: "Quantification of the amount of glycerate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021030 name: arabinose measurement def: "Quantification of the amount of arabinose in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021031 name: threitol measurement def: "Quantification of the amount of threitol in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021032 name: threonate measurement def: "Quantification of the amount of threonate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021033 name: biliverdin measurement def: "Quantification of the amount of biliverdin in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021034 name: pantothenate measurement def: "Quantification of the amount of pantothenate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021035 name: acetylphosphate measurement def: "Quantification of the amount of acetylphosphate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021036 name: taurolithocholate 3-sulfate measurement def: "Quantification of the amount of taurolithocholate 3-sulfate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021037 name: 3-dehydrocarnitine measurement def: "Quantification of the amount of 3-dehydrocarnitine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021038 name: acetylcarnitine measurement def: "Quantification of the amount of acetylcarnitine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021039 name: decanoylcarnitine measurement def: "Quantification of the amount of decanoylcarnitine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021040 name: hexanoylcarnitine measurement def: "Quantification of the amount of hexanoylcarnitine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021041 name: laurylcarnitine measurement def: "Quantification of the amount of laurylcarnitine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021042 name: octanoylcarnitine measurement def: "Quantification of the amount of octanoylcarnitine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021043 name: oleoylcarnitine measurement def: "Quantification of the amount of oleoylcarnitine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021044 name: palmitoylcarnitine measurement def: "Quantification of the amount of palmitoylcarnitine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021045 name: stearoylcarnitine measurement def: "Quantification of the amount of stearoylcarnitine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021046 name: dihomo-linolenate 20:3n3 or n6 measurement def: "Quantification of the amount of dihomo-linolenate 20:3n3 or n6 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021047 name: docosahexaenoate DHA; 22:6n3 measurement def: "Quantification of the amount of docosahexaenoate DHA; 22:6n3 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021048 name: docosapentaenoate n3 DPA; 22:5n3 measurement def: "Quantification of the amount of docosapentaenoate n3 DPA; 22:5n3 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021049 name: eicosapentaenoate EPA; 20:5n3 measurement def: "Quantification of the amount of eicosapentaenoate EPA; 20:5n3 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021050 name: linolenate [alpha or gamma; 18:3n3 or 6] measurement def: "Quantification of the amount of linolenate [alpha or gamma; 18:3n3 or 6] in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021051 name: isovalerate measurement def: "Quantification of the amount of isovalerate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021052 name: 15-methylpalmitate isobar with 2-methylpalmitate measurement def: "Quantification of the amount of 15-methylpalmitate isobar with 2-methylpalmitate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021053 name: 3-carboxy-4-methyl-5-propyl-2-furanpropanoate CMPF measurement def: "Quantification of the amount of 3-carboxy-4-methyl-5-propyl-2-furanpropanoate CMPF in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021054 name: dodecanedioate measurement def: "Quantification of the amount of dodecanedioate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021055 name: hexadecanedioate measurement def: "Quantification of the amount of hexadecanedioate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021056 name: octadecanedioate measurement def: "Quantification of the amount of octadecanedioate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021057 name: tetradecanedioate measurement def: "Quantification of the amount of tetradecanedioate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021058 name: n-Butyl Oleate measurement def: "Quantification of the amount of n-Butyl Oleate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021059 name: 2-hydroxystearate measurement def: "Quantification of the amount of 2-hydroxystearate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021060 name: 10-heptadecenoate 17:1n7 measurement def: "Quantification of the amount of 10-heptadecenoate 17:1n7 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021061 name: 10-nonadecenoate 19:1n9 measurement def: "Quantification of the amount of 10-nonadecenoate 19:1n9 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021062 name: adrenate 22:4n6 measurement def: "Quantification of the amount of adrenate 22:4n6 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021063 name: arachidonate 20:4n6 measurement def: "Quantification of the amount of arachidonate 20:4n6 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021064 name: dihomo-linoleate 20:2n6 measurement def: "Quantification of the amount of dihomo-linoleate 20:2n6 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021065 name: eicosenoate 20:1n9 or 11 measurement def: "Quantification of the amount of eicosenoate 20:1n9 or 11 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021066 name: margarate 17:0 measurement def: "Quantification of the amount of margarate 17:0 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021067 name: myristate 14:0 measurement def: "Quantification of the amount of myristate 14:0 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021068 name: myristoleate 14:1n5 measurement def: "Quantification of the amount of myristoleate 14:1n5 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021069 name: nonadecanoate 19:0 measurement def: "Quantification of the amount of nonadecanoate 19:0 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021070 name: oleate 18:1n9 measurement def: "Quantification of the amount of oleate 18:1n9 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021071 name: palmitate 16:0 measurement def: "Quantification of the amount of palmitate 16:0 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021072 name: palmitoleate 16:1n7 measurement def: "Quantification of the amount of palmitoleate 16:1n7 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021073 name: pentadecanoate 15:0 measurement def: "Quantification of the amount of pentadecanoate 15:0 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021074 name: stearate 18:0 measurement def: "Quantification of the amount of stearate 18:0 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021075 name: stearidonate 18:4n3 measurement def: "Quantification of the amount of stearidonate 18:4n3 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021076 name: 1-arachidonoylglycerophosphocholine measurement def: "Quantification of the amount of 1-arachidonoylglycerophosphocholine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021077 name: 1-arachidonoylglycerophosphoethanolamine measurement def: "Quantification of the amount of 1-arachidonoylglycerophosphoethanolamine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021078 name: 1-arachidonoylglycerophosphoinositol measurement def: "Quantification of the amount of 1-arachidonoylglycerophosphoinositol in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021079 name: 1-docosahexaenoylglycerophosphocholine measurement def: "Quantification of the amount of 1-docosahexaenoylglycerophosphocholine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021080 name: 1-eicosadienoylglycerophosphocholine measurement def: "Quantification of the amount of 1-eicosadienoylglycerophosphocholine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021081 name: 1-eicosatrienoylglycerophosphocholine measurement def: "Quantification of the amount of 1-eicosatrienoylglycerophosphocholine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021082 name: 1-heptadecanoylglycerophosphocholine measurement def: "Quantification of the amount of 1-heptadecanoylglycerophosphocholine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021083 name: 1-linoleoylglycerophosphocholine measurement def: "Quantification of the amount of 1-linoleoylglycerophosphocholine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021084 name: 1-linoleoylglycerophosphoethanolamine measurement def: "Quantification of the amount of 1-linoleoylglycerophosphoethanolamine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021085 name: 1-myristoylglycerophosphocholine measurement def: "Quantification of the amount of 1-myristoylglycerophosphocholine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021086 name: 1-oleoylglycerophosphocholine measurement def: "Quantification of the amount of 1-oleoylglycerophosphocholine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021087 name: 1-oleoylglycerophosphoethanolamine measurement def: "Quantification of the amount of 1-oleoylglycerophosphoethanolamine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021088 name: 1-palmitoleoylglycerophosphocholine measurement def: "Quantification of the amount of 1-palmitoleoylglycerophosphocholine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021089 name: 1-palmitoylglycerophosphocholine measurement def: "Quantification of the amount of 1-palmitoylglycerophosphocholine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021090 name: 1-palmitoylglycerophosphoethanolamine measurement def: "Quantification of the amount of 1-palmitoylglycerophosphoethanolamine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021091 name: 1-palmitoylglycerophosphoinositol measurement def: "Quantification of the amount of 1-palmitoylglycerophosphoinositol in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021092 name: 1-stearoylglycerophosphocholine measurement def: "Quantification of the amount of 1-stearoylglycerophosphocholine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021093 name: 1-stearoylglycerophosphoethanolamine measurement def: "Quantification of the amount of 1-stearoylglycerophosphoethanolamine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021094 name: 1-stearoylglycerophosphoinositol measurement def: "Quantification of the amount of 1-stearoylglycerophosphoinositol in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021095 name: 2-linoleoylglycerophosphocholine measurement def: "Quantification of the amount of 2-linoleoylglycerophosphocholine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021096 name: 2-oleoylglycerophosphocholine measurement def: "Quantification of the amount of 2-oleoylglycerophosphocholine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021097 name: 2-palmitoylglycerophosphocholine measurement def: "Quantification of the amount of 2-palmitoylglycerophosphocholine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021098 name: 2-stearoylglycerophosphocholine measurement def: "Quantification of the amount of 2-stearoylglycerophosphocholine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021099 name: 10-undecenoate 11:1n1 measurement def: "Quantification of the amount of 10-undecenoate 11:1n1 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021100 name: 5-dodecenoate 12:1n7 measurement def: "Quantification of the amount of 5-dodecenoate 12:1n7 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021101 name: caprate 10:0 measurement def: "Quantification of the amount of caprate 10:0 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021102 name: caproate 6:0 measurement def: "Quantification of the amount of caproate 6:0 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021103 name: caprylate 8:0 measurement def: "Quantification of the amount of caprylate 8:0 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021104 name: heptanoate 7:0 measurement def: "Quantification of the amount of heptanoate 7:0 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021105 name: laurate 12:0 measurement def: "Quantification of the amount of laurate 12:0 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021106 name: pelargonate 9:0 measurement def: "Quantification of the amount of pelargonate 9:0 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021107 name: undecanoate 11:0 measurement def: "Quantification of the amount of undecanoate 11:0 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021108 name: 1-linoleoylglycerol 1-monolinolein measurement def: "Quantification of the amount of 1-linoleoylglycerol 1-monolinolein in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021109 name: 1-oleoylglycerol 1-monoolein measurement def: "Quantification of the amount of 1-oleoylglycerol 1-monoolein in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021110 name: 1-palmitoylglycerol 1-monopalmitin measurement def: "Quantification of the amount of 1-palmitoylglycerol 1-monopalmitin in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021111 name: 1-stearoylglycerol 1-monostearin measurement def: "Quantification of the amount of 1-stearoylglycerol 1-monostearin in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021112 name: valerate measurement def: "Quantification of the amount of valerate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021113 name: 4-androsten-3beta,17beta-diol disulfate 1 measurement def: "Quantification of the amount of 4-androsten-3beta,17beta-diol disulfate 1 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021114 name: 4-androsten-3beta,17beta-diol disulfate 2 measurement def: "Quantification of the amount of 4-androsten-3beta,17beta-diol disulfate 2 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021115 name: 5alpha-androstan-3beta,17beta-diol disulfate measurement def: "Quantification of the amount of 5alpha-androstan-3beta,17beta-diol disulfate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021116 name: 7-alpha-hydroxy-3-oxo-4-cholestenoate 7-Hoca measurement def: "Quantification of the amount of 7-alpha-hydroxy-3-oxo-4-cholestenoate 7-Hoca in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021117 name: androsterone sulfate measurement def: "Quantification of the amount of androsterone sulfate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021118 name: cortisone measurement def: "Quantification of the amount of cortisone in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021119 name: dehydroisoandrosterone sulfate DHEA-S measurement def: "Quantification of the amount of dehydroisoandrosterone sulfate DHEA-S in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021120 name: epiandrosterone sulfate measurement def: "Quantification of the amount of epiandrosterone sulfate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021121 name: lathosterol measurement def: "Quantification of the amount of lathosterol in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021122 name: N1-methyladenosine measurement def: "Quantification of the amount of N1-methyladenosine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021123 name: 7-methylguanine measurement def: "Quantification of the amount of 7-methylguanine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021124 name: guanosine measurement def: "Quantification of the amount of guanosine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021125 name: N2,N2-dimethylguanosine measurement def: "Quantification of the amount of N2,N2-dimethylguanosine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021126 name: pseudouridine measurement def: "Quantification of the amount of pseudouridine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021127 name: aspartylphenylalanine measurement def: "Quantification of the amount of aspartylphenylalanine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021128 name: cycloleu-pro measurement def: "Quantification of the amount of cycloleu-pro in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021129 name: glycylvaline measurement def: "Quantification of the amount of glycylvaline in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021130 name: leucylleucine measurement def: "Quantification of the amount of leucylleucine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021131 name: phenylalanylphenylalanine measurement def: "Quantification of the amount of phenylalanylphenylalanine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021132 name: pro-hydroxy-pro measurement def: "Quantification of the amount of pro-hydroxy-pro in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021133 name: pyroglutamylglycine measurement def: "Quantification of the amount of pyroglutamylglycine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021134 name: ADpSGEGDFXAEGGGVR measurement def: "Quantification of the amount of ADpSGEGDFXAEGGGVR in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021135 name: ADSGEGDFXAEGGGVR measurement def: "Quantification of the amount of ADSGEGDFXAEGGGVR in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021136 name: DSGEGDFXAEGGGVR measurement def: "Quantification of the amount of DSGEGDFXAEGGGVR in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021137 name: gamma-glutamylglutamate measurement def: "Quantification of the amount of gamma-glutamylglutamate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021138 name: gamma-glutamylglutamine measurement def: "Quantification of the amount of gamma-glutamylglutamine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021139 name: gamma-glutamylisoleucine measurement def: "Quantification of the amount of gamma-glutamylisoleucine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021140 name: gamma-glutamylleucine measurement def: "Quantification of the amount of gamma-glutamylleucine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021141 name: gamma-glutamylmethionine measurement def: "Quantification of the amount of gamma-glutamylmethionine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021142 name: gamma-glutamylphenylalanine measurement def: "Quantification of the amount of gamma-glutamylphenylalanine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021143 name: gamma-glutamylthreonine measurement def: "Quantification of the amount of gamma-glutamylthreonine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021144 name: gamma-glutamyltyrosine measurement def: "Quantification of the amount of gamma-glutamyltyrosine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021145 name: gamma-glutamylvaline measurement def: "Quantification of the amount of gamma-glutamylvaline in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021146 name: bradykinin, des-arg 9 measurement def: "Quantification of the amount of bradykinin, des-arg 9 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021147 name: HWESASXX measurement def: "Quantification of the amount of HWESASXX in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021148 name: 4-ethylphenylsulfate measurement def: "Quantification of the amount of 4-ethylphenylsulfate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021149 name: 4-vinylphenol sulfate measurement def: "Quantification of the amount of 4-vinylphenol sulfate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021150 name: benzoate measurement def: "Quantification of the amount of benzoate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021151 name: catechol sulfate measurement def: "Quantification of the amount of catechol sulfate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021152 name: glycerol 2-phosphate measurement def: "Quantification of the amount of glycerol 2-phosphate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021153 name: 2-hydroxyacetaminophen sulfate measurement def: "Quantification of the amount of 2-hydroxyacetaminophen sulfate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021154 name: 2-methoxyacetaminophen sulfate measurement def: "Quantification of the amount of 2-methoxyacetaminophen sulfate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021155 name: 3-cystein-S-ylacetaminophen measurement def: "Quantification of the amount of 3-cystein-S-ylacetaminophen in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021156 name: 4-acetaminophen sulfate measurement def: "Quantification of the amount of 4-acetaminophen sulfate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021157 name: hydroquinone sulfate measurement def: "Quantification of the amount of hydroquinone sulfate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021158 name: ibuprofen measurement def: "Quantification of the amount of ibuprofen in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021159 name: metoprolol acid metabolite measurement def: "Quantification of the amount of metoprolol acid metabolite in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021160 name: p-acetamidophenylglucuronide measurement def: "Quantification of the amount of p-acetamidophenylglucuronide in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021161 name: salicylate measurement def: "Quantification of the amount of salicylate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021162 name: salicyluric glucuronide measurement def: "Quantification of the amount of salicyluric glucuronide in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021163 name: ergothioneine measurement def: "Quantification of the amount of ergothioneine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021164 name: homostachydrine measurement def: "Quantification of the amount of homostachydrine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021165 name: N-2-furoylglycine measurement def: "Quantification of the amount of N-2-furoylglycine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021166 name: piperine measurement def: "Quantification of the amount of piperine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021167 name: quinate measurement def: "Quantification of the amount of quinate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021168 name: saccharin measurement def: "Quantification of the amount of saccharin in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021169 name: stachydrine measurement def: "Quantification of the amount of stachydrine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021170 name: thymol sulfate measurement def: "Quantification of the amount of thymol sulfate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021171 name: erythritol measurement def: "Quantification of the amount of erythritol in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021172 name: 1,3,7-trimethylurate measurement def: "Quantification of the amount of 1,3,7-trimethylurate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021173 name: 1-methylurate measurement def: "Quantification of the amount of 1-methylurate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021174 name: 1-methylxanthine measurement def: "Quantification of the amount of 1-methylxanthine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021175 name: 3-methylxanthine measurement def: "Quantification of the amount of 3-methylxanthine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021176 name: 7-methylxanthine measurement def: "Quantification of the amount of 7-methylxanthine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021177 name: caffeine measurement def: "Quantification of the amount of caffeine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021178 name: paraxanthine measurement def: "Quantification of the amount of paraxanthine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021179 name: theobromine measurement def: "Quantification of the amount of theobromine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021180 name: theophylline measurement def: "Quantification of the amount of theophylline in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021181 name: X-01911 measurement def: "Quantification of the amount of X-01911 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021182 name: X-02249 measurement def: "Quantification of the amount of X-02249 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021183 name: X-02269 measurement def: "Quantification of the amount of X-02269 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021184 name: X-02973 measurement def: "Quantification of the amount of X-02973 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021185 name: X-03003 measurement def: "Quantification of the amount of X-03003 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021186 name: X-03056--N-[3- 2-Oxopyrrolidin-1-yl propyl]acetamide measurement def: "Quantification of the amount of X-03056--N-[3- 2-Oxopyrrolidin-1-yl propyl]acetamide in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021187 name: X-03088 measurement def: "Quantification of the amount of X-03088 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021188 name: X-03094 measurement def: "Quantification of the amount of X-03094 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021189 name: X-04357 measurement def: "Quantification of the amount of X-04357 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021190 name: X-04494 measurement def: "Quantification of the amount of X-04494 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021191 name: X-04495 measurement def: "Quantification of the amount of X-04495 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021192 name: X-04498 measurement def: "Quantification of the amount of X-04498 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021193 name: X-04499--3,4-dihydroxybutyrate measurement def: "Quantification of the amount of X-04499--3,4-dihydroxybutyrate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021194 name: X-04500 measurement def: "Quantification of the amount of X-04500 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021195 name: X-05426 measurement def: "Quantification of the amount of X-05426 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021196 name: X-05907 measurement def: "Quantification of the amount of X-05907 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021197 name: X-06126 measurement def: "Quantification of the amount of X-06126 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021198 name: X-06226 measurement def: "Quantification of the amount of X-06226 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021199 name: X-06246 measurement def: "Quantification of the amount of X-06246 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021200 name: X-06267 measurement def: "Quantification of the amount of X-06267 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021201 name: X-06307 measurement def: "Quantification of the amount of X-06307 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021202 name: X-06350 measurement def: "Quantification of the amount of X-06350 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021203 name: X-06351 measurement def: "Quantification of the amount of X-06351 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021204 name: X-07765 measurement def: "Quantification of the amount of X-07765 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021205 name: X-08402 measurement def: "Quantification of the amount of X-08402 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021206 name: X-08766 measurement def: "Quantification of the amount of X-08766 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021207 name: X-08988 measurement def: "Quantification of the amount of X-08988 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021208 name: X-09026 measurement def: "Quantification of the amount of X-09026 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021209 name: X-09108 measurement def: "Quantification of the amount of X-09108 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021210 name: X-09706 measurement def: "Quantification of the amount of X-09706 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021211 name: X-09789 measurement def: "Quantification of the amount of X-09789 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021212 name: X-10346 measurement def: "Quantification of the amount of X-10346 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021213 name: X-10395 measurement def: "Quantification of the amount of X-10395 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021214 name: X-10429 measurement def: "Quantification of the amount of X-10429 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021215 name: X-10500 measurement def: "Quantification of the amount of X-10500 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021216 name: X-10506 measurement def: "Quantification of the amount of X-10506 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021217 name: X-10510 measurement def: "Quantification of the amount of X-10510 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021218 name: X-10810 measurement def: "Quantification of the amount of X-10810 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021219 name: X-11204 measurement def: "Quantification of the amount of X-11204 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021220 name: X-11247 measurement def: "Quantification of the amount of X-11247 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021221 name: X-11261 measurement def: "Quantification of the amount of X-11261 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021222 name: X-11299 measurement def: "Quantification of the amount of X-11299 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021223 name: X-11315 measurement def: "Quantification of the amount of X-11315 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021224 name: X-11317 measurement def: "Quantification of the amount of X-11317 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021225 name: X-11327 measurement def: "Quantification of the amount of X-11327 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021226 name: X-11334 measurement def: "Quantification of the amount of X-11334 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021227 name: X-11374 measurement def: "Quantification of the amount of X-11374 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021228 name: X-11381 measurement def: "Quantification of the amount of X-11381 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021229 name: X-11412 measurement def: "Quantification of the amount of X-11412 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021230 name: X-11422--xanthine measurement def: "Quantification of the amount of X-11422--xanthine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021231 name: X-11423--O-sulfo-L-tyrosine measurement def: "Quantification of the amount of X-11423--O-sulfo-L-tyrosine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021232 name: X-11437 measurement def: "Quantification of the amount of X-11437 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021233 name: X-11438 measurement def: "Quantification of the amount of X-11438 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021234 name: X-11440 measurement def: "Quantification of the amount of X-11440 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021235 name: X-11441 measurement def: "Quantification of the amount of X-11441 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021236 name: X-11442 measurement def: "Quantification of the amount of X-11442 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021237 name: X-11444 measurement def: "Quantification of the amount of X-11444 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021238 name: X-11445--5-alpha-pregnan-3beta,20alpha-disulfate measurement def: "Quantification of the amount of X-11445--5-alpha-pregnan-3beta,20alpha-disulfate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021239 name: X-11452 measurement def: "Quantification of the amount of X-11452 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021240 name: X-11469 measurement def: "Quantification of the amount of X-11469 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021241 name: X-11470 measurement def: "Quantification of the amount of X-11470 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021242 name: X-11478 measurement def: "Quantification of the amount of X-11478 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021243 name: X-11483 measurement def: "Quantification of the amount of X-11483 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021244 name: X-11485 measurement def: "Quantification of the amount of X-11485 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021245 name: X-11491 measurement def: "Quantification of the amount of X-11491 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021246 name: X-11497 measurement def: "Quantification of the amount of X-11497 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021247 name: X-11521 measurement def: "Quantification of the amount of X-11521 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021248 name: X-11529 measurement def: "Quantification of the amount of X-11529 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021249 name: X-11530 measurement def: "Quantification of the amount of X-11530 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021250 name: X-11537 measurement def: "Quantification of the amount of X-11537 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021251 name: X-11538 measurement def: "Quantification of the amount of X-11538 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021252 name: X-11540 measurement def: "Quantification of the amount of X-11540 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021253 name: X-11546 measurement def: "Quantification of the amount of X-11546 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021254 name: X-11550 measurement def: "Quantification of the amount of X-11550 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021255 name: X-11552 measurement def: "Quantification of the amount of X-11552 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021256 name: X-11593--O-methylascorbate measurement def: "Quantification of the amount of X-11593--O-methylascorbate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021257 name: X-11786--methylcysteine measurement def: "Quantification of the amount of X-11786--methylcysteine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021258 name: X-11787 measurement def: "Quantification of the amount of X-11787 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021259 name: X-11792 measurement def: "Quantification of the amount of X-11792 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021260 name: X-11793--oxidized bilirubin measurement def: "Quantification of the amount of X-11793--oxidized bilirubin in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021261 name: X-11795 measurement def: "Quantification of the amount of X-11795 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021262 name: X-11799 measurement def: "Quantification of the amount of X-11799 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021263 name: X-11805 measurement def: "Quantification of the amount of X-11805 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021264 name: X-11818 measurement def: "Quantification of the amount of X-11818 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021265 name: X-11820 measurement def: "Quantification of the amount of X-11820 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021266 name: X-11843 measurement def: "Quantification of the amount of X-11843 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021267 name: X-11845 measurement def: "Quantification of the amount of X-11845 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021268 name: X-11847 measurement def: "Quantification of the amount of X-11847 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021269 name: X-11849 measurement def: "Quantification of the amount of X-11849 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021270 name: X-11850 measurement def: "Quantification of the amount of X-11850 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021271 name: X-11852 measurement def: "Quantification of the amount of X-11852 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021272 name: X-11858 measurement def: "Quantification of the amount of X-11858 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021273 name: X-11859 measurement def: "Quantification of the amount of X-11859 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021274 name: X-11876 measurement def: "Quantification of the amount of X-11876 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021275 name: X-11905 measurement def: "Quantification of the amount of X-11905 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021276 name: X-12007 measurement def: "Quantification of the amount of X-12007 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021277 name: X-12013 measurement def: "Quantification of the amount of X-12013 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021278 name: X-12029 measurement def: "Quantification of the amount of X-12029 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021279 name: X-12038 measurement def: "Quantification of the amount of X-12038 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021280 name: X-12039 measurement def: "Quantification of the amount of X-12039 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021281 name: X-12040 measurement def: "Quantification of the amount of X-12040 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021282 name: X-12056 measurement def: "Quantification of the amount of X-12056 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021283 name: X-12063 measurement def: "Quantification of the amount of X-12063 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021284 name: X-12092 measurement def: "Quantification of the amount of X-12092 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021285 name: X-12093 measurement def: "Quantification of the amount of X-12093 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021286 name: X-12094 measurement def: "Quantification of the amount of X-12094 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021287 name: X-12095--N1-methyl-3-pyridone-4-carboxamide measurement def: "Quantification of the amount of X-12095--N1-methyl-3-pyridone-4-carboxamide in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021288 name: X-12100--hydroxytryptophan measurement def: "Quantification of the amount of X-12100--hydroxytryptophan in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021289 name: X-12116 measurement def: "Quantification of the amount of X-12116 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021290 name: X-12188 measurement def: "Quantification of the amount of X-12188 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021291 name: X-12189 measurement def: "Quantification of the amount of X-12189 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021292 name: X-12206 measurement def: "Quantification of the amount of X-12206 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021293 name: X-12212 measurement def: "Quantification of the amount of X-12212 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021294 name: X-12216 measurement def: "Quantification of the amount of X-12216 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021295 name: X-12217 measurement def: "Quantification of the amount of X-12217 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021296 name: X-12230 measurement def: "Quantification of the amount of X-12230 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021297 name: X-12231 measurement def: "Quantification of the amount of X-12231 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021298 name: X-12236 measurement def: "Quantification of the amount of X-12236 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021299 name: X-12244--N-acetylcarnosine measurement def: "Quantification of the amount of X-12244--N-acetylcarnosine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021300 name: X-12253 measurement def: "Quantification of the amount of X-12253 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021301 name: X-12261 measurement def: "Quantification of the amount of X-12261 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021302 name: X-12329 measurement def: "Quantification of the amount of X-12329 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021303 name: X-12405 measurement def: "Quantification of the amount of X-12405 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021304 name: X-12407 measurement def: "Quantification of the amount of X-12407 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021305 name: X-12428 measurement def: "Quantification of the amount of X-12428 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021306 name: X-12435 measurement def: "Quantification of the amount of X-12435 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021307 name: X-12441--12-hydroxyeicosatetraenoate 12-HETE measurement def: "Quantification of the amount of X-12441--12-hydroxyeicosatetraenoate 12-HETE in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021308 name: X12442--5,8-tetradecadienoate measurement def: "Quantification of the amount of X12442--5,8-tetradecadienoate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021309 name: X-12443 measurement def: "Quantification of the amount of X-12443 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021310 name: X-12450 measurement def: "Quantification of the amount of X-12450 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021311 name: X-12456 measurement def: "Quantification of the amount of X-12456 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021312 name: X-12465 measurement def: "Quantification of the amount of X-12465 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021313 name: X-12510--2-aminooctanoic acid measurement def: "Quantification of the amount of X-12510--2-aminooctanoic acid in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021314 name: X-12524 measurement def: "Quantification of the amount of X-12524 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021315 name: X-12544 measurement def: "Quantification of the amount of X-12544 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021316 name: X-12556 measurement def: "Quantification of the amount of X-12556 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021317 name: X-12627 measurement def: "Quantification of the amount of X-12627 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021318 name: X-12644 measurement def: "Quantification of the amount of X-12644 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021319 name: X-12645 measurement def: "Quantification of the amount of X-12645 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021320 name: X-12680 measurement def: "Quantification of the amount of X-12680 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021321 name: X-12696 measurement def: "Quantification of the amount of X-12696 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021322 name: X-12704 measurement def: "Quantification of the amount of X-12704 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021323 name: X-12712 measurement def: "Quantification of the amount of X-12712 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021324 name: X-12717 measurement def: "Quantification of the amount of X-12717 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021325 name: X-12719 measurement def: "Quantification of the amount of X-12719 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021326 name: X-12726 measurement def: "Quantification of the amount of X-12726 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021327 name: X-12728 measurement def: "Quantification of the amount of X-12728 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021328 name: X-12729 measurement def: "Quantification of the amount of X-12729 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021329 name: X-12734 measurement def: "Quantification of the amount of X-12734 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021330 name: X-12740 measurement def: "Quantification of the amount of X-12740 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021331 name: X-12749 measurement def: "Quantification of the amount of X-12749 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021332 name: X-12771 measurement def: "Quantification of the amount of X-12771 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021333 name: X-12776 measurement def: "Quantification of the amount of X-12776 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021334 name: X-12786 measurement def: "Quantification of the amount of X-12786 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021335 name: X-12798 measurement def: "Quantification of the amount of X-12798 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021336 name: X-12816 measurement def: "Quantification of the amount of X-12816 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021337 name: X-12830 measurement def: "Quantification of the amount of X-12830 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021338 name: X-12833 measurement def: "Quantification of the amount of X-12833 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021339 name: X-12844 measurement def: "Quantification of the amount of X-12844 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021340 name: X-12847 measurement def: "Quantification of the amount of X-12847 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021341 name: X-12850 measurement def: "Quantification of the amount of X-12850 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021342 name: X-12851 measurement def: "Quantification of the amount of X-12851 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021343 name: X-12855 measurement def: "Quantification of the amount of X-12855 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021344 name: X-12990--docosapentaenoic acid n6-DPA measurement def: "Quantification of the amount of X-12990--docosapentaenoic acid n6-DPA in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021345 name: X-13069 measurement def: "Quantification of the amount of X-13069 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021346 name: X-13183--stearamide measurement def: "Quantification of the amount of X-13183--stearamide in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021347 name: X-13215 measurement def: "Quantification of the amount of X-13215 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021348 name: X-13429 measurement def: "Quantification of the amount of X-13429 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021349 name: X-13431--nonanoylcarnitine measurement def: "Quantification of the amount of X-13431--nonanoylcarnitine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021350 name: X-13435 measurement def: "Quantification of the amount of X-13435 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021351 name: X-13477 measurement def: "Quantification of the amount of X-13477 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021352 name: X-13496 measurement def: "Quantification of the amount of X-13496 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021353 name: X-13548 measurement def: "Quantification of the amount of X-13548 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021354 name: X-13549 measurement def: "Quantification of the amount of X-13549 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021355 name: X-13553 measurement def: "Quantification of the amount of X-13553 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021356 name: X-13619 measurement def: "Quantification of the amount of X-13619 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021357 name: X-13658 measurement def: "Quantification of the amount of X-13658 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021358 name: X-13671 measurement def: "Quantification of the amount of X-13671 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021359 name: X-13741 measurement def: "Quantification of the amount of X-13741 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021360 name: X-13859 measurement def: "Quantification of the amount of X-13859 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021361 name: X-14056 measurement def: "Quantification of the amount of X-14056 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021362 name: X-14057 measurement def: "Quantification of the amount of X-14057 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021363 name: X-14086 measurement def: "Quantification of the amount of X-14086 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021364 name: X-14189--leucylalanine measurement def: "Quantification of the amount of X-14189--leucylalanine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021365 name: X-14205--alpha-glutamyltyrosine measurement def: "Quantification of the amount of X-14205--alpha-glutamyltyrosine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021366 name: X-14208--phenylalanylserine measurement def: "Quantification of the amount of X-14208--phenylalanylserine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021367 name: X-14304--leucylalanine measurement def: "Quantification of the amount of X-14304--leucylalanine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021368 name: X-14374 measurement def: "Quantification of the amount of X-14374 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021369 name: X-14450--phenylalanylleucine measurement def: "Quantification of the amount of X-14450--phenylalanylleucine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021370 name: X-14473 measurement def: "Quantification of the amount of X-14473 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021371 name: X-14541 measurement def: "Quantification of the amount of X-14541 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021372 name: X-14588 measurement def: "Quantification of the amount of X-14588 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021373 name: X-14625 measurement def: "Quantification of the amount of X-14625 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021374 name: X-14626 measurement def: "Quantification of the amount of X-14626 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021375 name: X-14632 measurement def: "Quantification of the amount of X-14632 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021376 name: X-14658 measurement def: "Quantification of the amount of X-14658 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021377 name: X-14662 measurement def: "Quantification of the amount of X-14662 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021378 name: X-14745 measurement def: "Quantification of the amount of X-14745 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021379 name: X-14977--vanillin measurement def: "Quantification of the amount of X-14977--vanillin in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021380 name: X-18601 measurement def: "Quantification of the amount of X-18601 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021381 name: betaine-to-pyroglutamine ratio def: "Quantification of the ratio of betaine to pyroglutamine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021382 name: N-acetylornithine-to-myo-inositol ratio def: "Quantification of the ratio of N-acetylornithine to myo-inositol in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021383 name: X-08402-to-cholesterol ratio def: "Quantification of the ratio of X-08402 to cholesterol in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021384 name: phosphate-to-erythronate ratio def: "Quantification of the ratio of phosphate to erythronate in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021385 name: propionylcarnitine-to-isovalerylcarnitine ratio def: "Quantification of the ratio of propionylcarnitine to isovalerylcarnitine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021386 name: octanoylcarnitine-to-X-13435 ratio def: "Quantification of the ratio of octanoylcarnitine to X-13435 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021387 name: valine-to-isovalerylcarnitine ratio def: "Quantification of the ratio of valine to isovalerylcarnitine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021388 name: X-12038-to-bradykinin, des-arg 9 ratio def: "Quantification of the ratio of X-12038 to bradykinin, des-arg 9 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021389 name: docosapentaenoate n3 DPA; 22:5n3-to-X-12627 ratio def: "Quantification of the ratio of docosapentaenoate n3 DPA; 22:5n3 to X-12627 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021390 name: lysine-to-glutaroyl carnitine ratio def: "Quantification of the ratio of lysine to glutaroyl carnitine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021391 name: aspartylphenylalanine-to-X-14450--phenylalanylleucine ratio def: "Quantification of the ratio of aspartylphenylalanine to X-14450--phenylalanylleucine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021392 name: X-11820-to-cholesterol ratio def: "Quantification of the ratio of X-11820 to cholesterol in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021393 name: X-11440-to-4-androsten-3beta,17beta-diol disulfate 2 ratio def: "Quantification of the ratio of X-11440 to 4-androsten-3beta,17beta-diol disulfate 2 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021394 name: ADSGEGDFXAEGGGVR-to-ADpSGEGDFXAEGGGVR ratio def: "Quantification of the ratio of ADSGEGDFXAEGGGVR to ADpSGEGDFXAEGGGVR in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021395 name: DSGEGDFXAEGGGVR-to-ADpSGEGDFXAEGGGVR ratio def: "Quantification of the ratio of DSGEGDFXAEGGGVR to ADpSGEGDFXAEGGGVR in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021396 name: indoleacetate-to-N2,N2-dimethylguanosine ratio def: "Quantification of the ratio of indoleacetate to N2,N2-dimethylguanosine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021397 name: arachidonate 20:4n6-to-1-arachidonoylglycerophosphoinositol ratio def: "Quantification of the ratio of arachidonate 20:4n6 to 1-arachidonoylglycerophosphoinositol in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021398 name: X-10510-to-palmitoyl sphingomyelin ratio def: "Quantification of the ratio of X-10510 to palmitoyl sphingomyelin in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021399 name: X-12095--N1-methyl-3-pyridone-4-carboxamide-to-X-12844 ratio def: "Quantification of the ratio of X-12095--N1-methyl-3-pyridone-4-carboxamide to X-12844 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021400 name: 4-acetamidobutanoate-to-X-03056--N-[3-(2-Oxopyrrolidin-1-yl)propyl]acetamide ratio def: "Quantification of the ratio of 4-acetamidobutanoate to X-03056--N-[3-(2-Oxopyrrolidin-1-yl)propyl]acetamide in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021401 name: ADpSGEGDFXAEGGGVR-to-X-14304--leucylalanine ratio def: "Quantification of the ratio of ADpSGEGDFXAEGGGVR to X-14304--leucylalanine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021402 name: 10-undecenoate 11:1n1-to-X-11438 ratio def: "Quantification of the ratio of 10-undecenoate 11:1n1 to X-11438 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021403 name: carnitine-to-X-12798 ratio def: "Quantification of the ratio of carnitine to X-12798 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021404 name: glucose-to-mannose ratio def: "Quantification of the ratio of glucose to mannose in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021405 name: X-11444-to-X-12844 ratio def: "Quantification of the ratio of X-11444 to X-12844 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021406 name: isoleucine-to-X-11529 ratio def: "Quantification of the ratio of isoleucine to X-11529 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021407 name: X-11315-to-pyroglutamine ratio def: "Quantification of the ratio of X-11315 to pyroglutamine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021408 name: X-13215-to-X-13671 ratio def: "Quantification of the ratio of X-13215 to X-13671 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021409 name: urate-to-histidine ratio def: "Quantification of the ratio of urate to histidine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021410 name: hexanoylcarnitine-to-octanoylcarnitine ratio def: "Quantification of the ratio of hexanoylcarnitine to octanoylcarnitine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021411 name: DHEA-S-to-4-androsten-3beta,17beta-diol disulfate 2 ratio def: "Quantification of the ratio of DHEA-S to 4-androsten-3beta,17beta-diol disulfate 2 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021412 name: X-11444-to-X-11470 ratio def: "Quantification of the ratio of X-11444 to X-11470 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021413 name: androsterone sulfate-to-4-androsten-3beta,17beta-diol disulfate 2 ratio def: "Quantification of the ratio of androsterone sulfate to 4-androsten-3beta,17beta-diol disulfate 2 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021414 name: valine-to-proline ratio def: "Quantification of the ratio of valine to proline in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021415 name: X-04499--3,4-dihydroxybutyrate-to-C-glycosyltryptophan ratio def: "Quantification of the ratio of X-04499--3,4-dihydroxybutyrate to C-glycosyltryptophan in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021416 name: C-glycosyltryptophan-to-succinylcarnitine ratio def: "Quantification of the ratio of C-glycosyltryptophan to succinylcarnitine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021417 name: X-12798-to-phenylalanine ratio def: "Quantification of the ratio of X-12798 to phenylalanine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021418 name: 4-acetamidobutanoate-to-N1-methyladenosine ratio def: "Quantification of the ratio of 4-acetamidobutanoate to N1-methyladenosine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021419 name: myristate 14:0-to-myristoleate 14:1n5 ratio def: "Quantification of the ratio of myristate 14:0 to myristoleate 14:1n5 in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021420 name: glutamine-to-histidine ratio def: "Quantification of the ratio of glutamine to histidine in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021421 name: spleen iron measurement def: "Quantification of the amount of iron in the spleen." [] xref: PMID:35568031 is_a: EFO:0004461 ! iron biomarker measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-06-07T14:18:23Z xsd:dateTime [Term] id: EFO:0021422 name: response to piromelatine def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a piromelatine stimulus." [] xref: PMID:35542997 is_a: GO:0009410 ! response to xenobiotic stimulus property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-06-07T15:05:30Z xsd:dateTime [Term] id: EFO:0021423 name: family history of uterine fibroids def: "A reported family history of uterine fibroids in one or more family members." [] is_a: EFO:0000493 ! family history relationship: IAO:0000136 EFO:0000731 ! is_about uterine fibroid property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-06-07T15:26:35Z xsd:dateTime [Term] id: EFO:0021424 name: response to sevoflurane def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of sevoflurane." [] xref: PMID:35202912 is_a: GO:0009410 ! response to xenobiotic stimulus property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-06-08T07:59:20Z xsd:dateTime [Term] id: EFO:0021425 name: pigmentary glaucoma def: "Pigmentary glaucoma is a type of secondary open-angle glaucoma characterized by heavy homogenous pigmentation of the trabecular meshwork, iris transillumination defects, and pigment along the corneal endothelium (Krukenberg spindle)." [] {http://www.ebi.ac.uk/efo/definition_citation="https://eyewiki.aao.org/Pigmentary_Glaucoma_and_Pigment_Dispersion_Syndrome"} xref: PMID:35031440 is_a: MONDO:0005041 ! glaucoma property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-06-08T08:48:06Z xsd:dateTime [Term] id: EFO:0021426 name: humanized mouse def: "The mice carry the human CYP1A1 and CYP1A2 genes in the absence of functional mouse Cyp1a1 and Cyp1a2 orthologs and mimic the human poor-affinity aryl hydrocarbon receptor (AHR) by carrying the poor-affinity Ahrd allele derived from DBA/2J mice. These may be useful in drug or carcinogen metabolism research; specifically as a model for human risk assessment studies involving drug or environmental toxicants that may be substrates for the aryl hydrocarbon receptor (AHR) or cytochrome P450 family 1 members." [] {http://www.ebi.ac.uk/efo/definition_citation="ORCID:0000-0002-7683-0452", http://www.ebi.ac.uk/efo/definition_citation="https://www.jax.org/strain/008599"} synonym: "humanised mouse" EXACT [] synonym: "humanized hCYP1A1_1A2_Cyp1a1/1a2(-/-)_Ahr mutant mice" EXACT [] is_a: NCBITaxon:10090 ! Mus musculus property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-06-08T13:56:19Z xsd:dateTime [Term] id: EFO:0021427 name: N-acetylmethionine measurement def: "Quantification of N-acetylmethionine levels in a sample." [] {http://www.ebi.ac.uk/efo/definition_citation="https://www.sciencedirect.com/topics/medicine-and-dentistry/n-acetylmethionine"} xref: ORCID:0000-0002-2417-7324 is_a: EFO:0009771 ! methionine measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-06-09T08:06:34Z xsd:dateTime [Term] id: EFO:0021428 name: N6-succinyladenosine measurement def: "Quantification of the N6-succinyladenosine levels in a sample." [] {http://www.ebi.ac.uk/efo/definition_citation="https://www.medchemexpress.com/succinyladenosine.html"} synonym: "succinyladenosine measurement" EXACT [] xref: ORCID:0000-0002-2417-7324 is_a: EFO:0010453 ! adenosine measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-06-09T08:07:32Z xsd:dateTime [Term] id: EFO:0021429 name: N-acetylarginine measurement def: "Quantification of N-acetylarginine levels in a sample." [] {http://www.ebi.ac.uk/efo/definition_citation="https://pubchem.ncbi.nlm.nih.gov/compound/N-Acetyl-L-arginine"} synonym: "N-Acetyl-L-arginine measurement" EXACT [] xref: ORCID:0000-0002-2417-7324 is_a: EFO:0006524 ! L-arginine measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-06-09T08:10:30Z xsd:dateTime [Term] id: EFO:0021430 name: N-acetyl-beta-alanine measurement def: "Quantification of N-acetyl-beta-alanine levels in a sample." [] xref: ORCID:0000-0002-2417-7324 is_a: EFO:0009765 ! alanine measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-06-09T08:13:30Z xsd:dateTime [Term] id: EFO:0021431 name: adult hypophosphatasia def: "A moderate form of hypophosphatasia (HPP) characterized by adult onset osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures and dental anomalies." [] synonym: "Adult phosphoethanolaminuria" EXACT [] synonym: "Adult Rathbun disease" EXACT [] xref: DOID:0110913 xref: OMIM:146300 xref: Orphanet:247676 xref: UMLS:C0268413 is_a: Orphanet:93447 ! Primary bone dysplasia with defective bone mineralization property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-06-09T08:56:28Z xsd:dateTime [Term] id: EFO:0021432 name: childhood-onset hypophosphatasia def: "A rare, moderate form of hypophosphatasia (HPP) characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures, skeletal deformities, and rickets with short stature and waddling gait." [] synonym: "Childhood-onset phosphoethanolaminuria" EXACT [] synonym: "Childhood-onset Rathbun disease" EXACT [] is_a: Orphanet:93447 ! Primary bone dysplasia with defective bone mineralization property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-06-09T08:57:52Z xsd:dateTime [Term] id: EFO:0021433 name: congenital chronic kidney disease def: "Impairment of the renal function secondary to chronic kidney damage persisting for three or more months." [] synonym: "inherited kidney disease" EXACT [] synonym: "monogenic chronic kidney disease" EXACT [] xref: ORCID:0000-0002-2417-7324 xref: PMID:31085678 is_a: EFO:0003884 ! chronic kidney disease property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-06-09T09:29:47Z xsd:dateTime [Term] id: EFO:0021434 name: cholesteryl ester 15:0 measurement def: "Quantification of cholesteryl ester 15:0 in a sample." [] xref: PMID:35668104 is_a: EFO:0010351 ! cholesteryl ester measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021435 name: cholesteryl ester 16:2 measurement def: "Quantification of cholesteryl ester 16:2 in a sample." [] xref: PMID:35668104 is_a: EFO:0010351 ! cholesteryl ester measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021436 name: cholesteryl ester 17:0 measurement def: "Quantification of cholesteryl ester 17:0 in a sample." [] xref: PMID:35668104 is_a: EFO:0010351 ! cholesteryl ester measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021437 name: cholesteryl ester 17:1 measurement def: "Quantification of cholesteryl ester 17:1 in a sample." [] xref: PMID:35668104 is_a: EFO:0010351 ! cholesteryl ester measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021438 name: cholesteryl ester 20:0 measurement def: "Quantification of cholesteryl ester 20:0 in a sample." [] xref: PMID:35668104 is_a: EFO:0010351 ! cholesteryl ester measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021439 name: cholesteryl ester 20:1 measurement def: "Quantification of cholesteryl ester 20:1 in a sample." [] xref: PMID:35668104 is_a: EFO:0010351 ! cholesteryl ester measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021440 name: cholesteryl ester 20:2 measurement def: "Quantification of cholesteryl ester 20:2 in a sample." [] xref: PMID:35668104 is_a: EFO:0010351 ! cholesteryl ester measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021441 name: cholesteryl ester 22:0 measurement def: "Quantification of cholesteryl ester 22:0 in a sample." [] xref: PMID:35668104 is_a: EFO:0010351 ! cholesteryl ester measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021442 name: cholesteryl ester 22:1 measurement def: "Quantification of cholesteryl ester 22:1 in a sample." [] xref: PMID:35668104 is_a: EFO:0010351 ! cholesteryl ester measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021443 name: cholesteryl ester 22:4 measurement def: "Quantification of cholesteryl ester 22:4 in a sample." [] xref: PMID:35668104 is_a: EFO:0010351 ! cholesteryl ester measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021444 name: cholesteryl ester 22:5 measurement def: "Quantification of cholesteryl ester 22:5 in a sample." [] xref: PMID:35668104 is_a: EFO:0010351 ! cholesteryl ester measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021445 name: cholesteryl ester 24:0 measurement def: "Quantification of cholesteryl ester 24:0 in a sample." [] xref: PMID:35668104 is_a: EFO:0010351 ! cholesteryl ester measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021446 name: cholesteryl ester 24:1 measurement def: "Quantification of cholesteryl ester 24:1 in a sample." [] xref: PMID:35668104 is_a: EFO:0010351 ! cholesteryl ester measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021447 name: cholesteryl ester 24:4 measurement def: "Quantification of cholesteryl ester 24:4 in a sample." [] xref: PMID:35668104 is_a: EFO:0010351 ! cholesteryl ester measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021448 name: cholesteryl ester 24:5 measurement def: "Quantification of cholesteryl ester 24:5 in a sample." [] xref: PMID:35668104 is_a: EFO:0010351 ! cholesteryl ester measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021449 name: cholesteryl ester 24:6 measurement def: "Quantification of cholesteryl ester 24:6 in a sample." [] xref: PMID:35668104 is_a: EFO:0010351 ! cholesteryl ester measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021450 name: GM1 ganglioside measurement def: "Quantification of GM1 ganglioside in a sample." [] xref: PMID:35668104 is_a: EFO:0004622 ! sphingolipid measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021451 name: GM3 ganglioside measurement def: "Quantification of GM3 ganglioside in a sample." [] xref: PMID:35668104 is_a: EFO:0004622 ! sphingolipid measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021452 name: lysophosphatidylcholine 17:0 measurement def: "Quantification of lysophosphatidylcholine 17:0 in a sample." [] xref: PMID:35668104 is_a: EFO:0010224 ! lysophosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021453 name: lysophosphatidylcholine 17:1 measurement def: "Quantification of lysophosphatidylcholine 17:1 in a sample." [] xref: PMID:35668104 is_a: EFO:0010224 ! lysophosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021454 name: lysophosphatidylcholine 18:3 measurement def: "Quantification of lysophosphatidylcholine 18:3 in a sample." [] xref: PMID:35668104 is_a: EFO:0010224 ! lysophosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021455 name: lysophosphatidylcholine 19:0 measurement def: "Quantification of lysophosphatidylcholine 19:0 in a sample." [] xref: PMID:35668104 is_a: EFO:0010224 ! lysophosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021456 name: lysophosphatidylcholine 20:0 measurement def: "Quantification of lysophosphatidylcholine 20:0 in a sample." [] xref: PMID:35668104 is_a: EFO:0010224 ! lysophosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021457 name: lysophosphatidylcholine 20:1 measurement def: "Quantification of lysophosphatidylcholine 20:1 in a sample." [] xref: PMID:35668104 is_a: EFO:0010224 ! lysophosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021458 name: lysophosphatidylcholine 20:2 measurement def: "Quantification of lysophosphatidylcholine 20:2 in a sample." [] xref: PMID:35668104 is_a: EFO:0010224 ! lysophosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021459 name: lysophosphatidylcholine 22:0 measurement def: "Quantification of lysophosphatidylcholine 22:0 in a sample." [] xref: PMID:35668104 is_a: EFO:0010224 ! lysophosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021460 name: lysophosphatidylcholine 22:1 measurement def: "Quantification of lysophosphatidylcholine 22:1 in a sample." [] xref: PMID:35668104 is_a: EFO:0010224 ! lysophosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021461 name: lysophosphatidylcholine 22:4 measurement def: "Quantification of lysophosphatidylcholine 22:4 in a sample." [] xref: PMID:35668104 is_a: EFO:0010224 ! lysophosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021462 name: lysophosphatidylcholine 22:5 measurement def: "Quantification of lysophosphatidylcholine 22:5 in a sample." [] xref: PMID:35668104 is_a: EFO:0010224 ! lysophosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021463 name: lysophosphatidylcholine 24:0 measurement def: "Quantification of lysophosphatidylcholine 24:0 in a sample." [] xref: PMID:35668104 is_a: EFO:0010224 ! lysophosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021464 name: lysophosphatidylcholine 26:0 measurement def: "Quantification of lysophosphatidylcholine 26:0 in a sample." [] xref: PMID:35668104 is_a: EFO:0010224 ! lysophosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021465 name: lysophosphatidylethanolamine 17:0 measurement def: "Quantification of lysophosphatidylethanolamine 17:0 in a sample." [] xref: PMID:35668104 is_a: EFO:0010225 ! lysophosphatidylethanolamine measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021466 name: phosphatidylcholine 28:0 measurement def: "Quantification of phosphatidylcholine 28:0 in a sample." [] xref: PMID:35668104 is_a: EFO:0010226 ! phosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021467 name: phosphatidylcholine 31:0 measurement def: "Quantification of phosphatidylcholine 31:0 in a sample." [] xref: PMID:35668104 is_a: EFO:0010226 ! phosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021468 name: phosphatidylcholine 33:0 measurement def: "Quantification of phosphatidylcholine 33:0 in a sample." [] xref: PMID:35668104 is_a: EFO:0010226 ! phosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021469 name: phosphatidylcholine 33:1 measurement def: "Quantification of phosphatidylcholine 33:1 in a sample." [] xref: PMID:35668104 is_a: EFO:0010226 ! phosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021470 name: phosphatidylcholine 33:2 measurement def: "Quantification of phosphatidylcholine 33:2 in a sample." [] xref: PMID:35668104 is_a: EFO:0010226 ! phosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021471 name: phosphatidylcholine 34:5 measurement def: "Quantification of phosphatidylcholine 34:5 in a sample." [] xref: PMID:35668104 is_a: EFO:0010226 ! phosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021472 name: phosphatidylcholine 35:5 measurement def: "Quantification of phosphatidylcholine 35:5 in a sample." [] xref: PMID:35668104 is_a: EFO:0010226 ! phosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021473 name: phosphatidylcholine 36:0 measurement def: "Quantification of phosphatidylcholine 36:0 in a sample." [] xref: PMID:35668104 is_a: EFO:0010226 ! phosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021474 name: phosphatidylcholine 36:6 measurement def: "Quantification of phosphatidylcholine 36:6 in a sample." [] xref: PMID:35668104 is_a: EFO:0010226 ! phosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021475 name: phosphatidylcholine 38:7 measurement def: "Quantification of phosphatidylcholine 38:7 in a sample." [] xref: PMID:35668104 is_a: EFO:0010226 ! phosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021476 name: phosphatidylcholine 39:5 measurement def: "Quantification of phosphatidylcholine 39:5 in a sample." [] xref: PMID:35668104 is_a: EFO:0010226 ! phosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021477 name: phosphatidylcholine 40:7 measurement def: "Quantification of phosphatidylcholine 40:7 in a sample." [] xref: PMID:35668104 is_a: EFO:0010226 ! phosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021478 name: phosphatidylcholine 40:8 measurement def: "Quantification of phosphatidylcholine 40:8 in a sample." [] xref: PMID:35668104 is_a: EFO:0010226 ! phosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021479 name: triacylglycerol 49:1 measurement def: "Quantification of triacylglycerol 49:1 in a sample." [] xref: PMID:35668104 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021480 name: triacylglycerol 50:0 measurement def: "Quantification of triacylglycerol 50:0 in a sample." [] xref: PMID:35668104 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021481 name: triacylglycerol 51:0 measurement def: "Quantification of triacylglycerol 51:0 in a sample." [] xref: PMID:35668104 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021482 name: triacylglycerol 51:1 measurement def: "Quantification of triacylglycerol 51:1 in a sample." [] xref: PMID:35668104 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021483 name: triacylglycerol 51:2 measurement def: "Quantification of triacylglycerol 51:2 in a sample." [] xref: PMID:35668104 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021484 name: triacylglycerol 53:2 measurement def: "Quantification of triacylglycerol 53:2 in a sample." [] xref: PMID:35668104 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021485 name: triacylglycerol 54:0 measurement def: "Quantification of triacylglycerol 54:0 in a sample." [] xref: PMID:35668104 is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021486 name: ubiquinone measurement def: "Quantification of ubiquinone in a sample." [] xref: PMID:35668104 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/creator "Santhi Ramachandran" xsd:string [Term] id: EFO:0021487 name: cryptic phenotype measurement def: "Quantification of disease-related phenotypic variability using qualitative symptom data." [] xref: PMID:35760791 is_a: EFO:0001444 ! measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T08:29:20Z xsd:dateTime [Term] id: EFO:0021488 name: urinary 6‑hydroxymelatonin sulfate to creatinine ratio def: "Quantification of the ratio of 6‑hydroxymelatonin sulfate to creatinine in a urine sample." [] xref: PMID:35577822 is_a: EFO:0005116 ! urinary metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T08:54:42Z xsd:dateTime [Term] id: EFO:0021489 name: treprostinil dose measurement def: "Quantification of some aspect of treprostinil dosage." [] xref: PMID:35383711 is_a: EFO:0007010 ! drug use measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T10:18:20Z xsd:dateTime [Term] id: EFO:0021490 name: amygdala volume change measurement def: "Quantification of the change in amygdala volume over time." [] xref: PMID:35383335 is_a: EFO:0006934 ! amygdala volume property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T10:40:28Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021491 name: caudate volume change measurement def: "Quantification of the change in caudate volume over time." [] xref: PMID:35383335 is_a: EFO:0004830 ! caudate nucleus volume property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T10:41:51Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021492 name: hippocampus volume change measurement def: "Quantification of the change in hippocampus volume over time." [] xref: PMID:35383335 is_a: EFO:0005035 ! hippocampal volume property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T10:42:35Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021493 name: nucleus accumbens volume change measurement def: "Quantification of the change in nucleus accumbens volume over time." [] xref: PMID:35383335 is_a: EFO:0006931 ! nucleus accumbens volume property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T10:43:17Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021494 name: pallidum volume change measurement def: "Quantification of the change in pallidum volume over time." [] xref: PMID:35383335 is_a: EFO:0006933 ! pallidum volume property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T10:46:10Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021495 name: putamen volume change measurement def: "Quantification of the change in putamen volume over time." [] xref: PMID:35383335 is_a: EFO:0006932 ! putamen volume property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T10:47:54Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021496 name: thalamus volume change measurement def: "Quantification of the change in thalamus volume over time." [] xref: PMID:35383335 is_a: EFO:0006935 ! thalamus volume property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T10:49:23Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021497 name: cerebellum cortex volume change measurement def: "Quantification of the change in cerebellum cortex volume over time." [] xref: PMID:35383335 is_a: EFO:0010291 ! cerebellar cortex volume measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T10:52:52Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021498 name: cerebellum white matter volume change measurement def: "Quantification of the change in cerebellum white matter volume over time." [] xref: PMID:35383335 is_a: EFO:0008320 ! white matter volume measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T10:54:26Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021499 name: cerebral white matter volume change measurement def: "Quantification of the change in cerebral white matter volume over time." [] xref: PMID:35383335 is_a: EFO:0008320 ! white matter volume measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T10:55:12Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021500 name: cortex volume change measurement def: "Quantification of the change in cortex volume over time." [] xref: PMID:35383335 is_a: EFO:0010292 ! cerebral cortex volume measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T10:56:00Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021501 name: cortical thickness change measurement def: "Quantification of the change in cortical thickness over time." [] xref: PMID:35383335 is_a: EFO:0004840 ! cortical thickness property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T10:56:28Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021502 name: lateral ventricle volume change measurement def: "Quantification of the change in lateral ventricle volume over time." [] xref: PMID:35383335 is_a: EFO:0008487 ! lateral ventricle volume measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T10:57:02Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021503 name: cortical surface area change measurement def: "Quantification of the change in cortical surface area over time." [] xref: PMID:35383335 is_a: EFO:0010736 ! cortical surface area measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T10:57:32Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021504 name: total brain volume change measurement def: "Quantification of the change in total brain volume over time." [] xref: PMID:35383335 is_a: EFO:0005089 ! whole-brain volume property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T10:58:08Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021505 name: diffuse hemispheric glioma, H3 G34-mutant def: "A WHO grade 4 diffuse glioma arising in the cerebral hemispheres. It is characterized by the presence of missense mutation of the H3-3A gene. The prognosis is poor." [] {http://www.ebi.ac.uk/efo/definition_citation="NCIT:C185371"} xref: NCIT:C185371 is_a: MONDO:0100342 ! malignant glioma property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2023-08-10T12:58:35Z xsd:dateTime [Term] id: EFO:0021506 name: 2-hydroxyglutarate measurement def: "Quantification of the amount of 2-hydroxyglutarate measurement in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T11:36:47Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021507 name: 2-hydroxypalmitate measurement def: "Quantification of the amount of 2-hydroxypalmitate measurement in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T11:37:13Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021508 name: 4-hydroxyhippurate measurement def: "Quantification of the amount of 4-hydroxyhippurate measurement in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T11:37:25Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021509 name: cholate measurement def: "Quantification of the amount of cholate measurement in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T11:37:36Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021510 name: linoleate 18:2n6 measurement def: "Quantification of the amount of linoleate 18:2n6 measurement in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T11:37:48Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021511 name: phenyllactate measurement def: "Quantification of the amount of phenyllactate measurement in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T11:38:04Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021512 name: 1,7-dimethylurate measurement def: "Quantification of the amount of 1,7-dimethylurate measurement in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T11:38:15Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021513 name: 3-4-hydroxyphenyl lactate-to-alpha-hydroxyisovalerate ratio def: "Quantification of the ratio of 3-4-hydroxyphenyl lactate-to-alpha-hydroxyisovalerate ratio in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T11:38:27Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021514 name: acetylcarnitine-to-hexanoylcarnitine ratio def: "Quantification of the ratio of acetylcarnitine-to-hexanoylcarnitine ratio in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T11:38:39Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021515 name: androsterone sulfate-to-epiandrosterone sulfate ratio def: "Quantification of the ratio of androsterone sulfate-to-epiandrosterone sulfate ratio in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T11:38:53Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021516 name: central nervous system Burkitt lymphoma def: "A rare Burkitt lymphoma that arises from the central nervous system." [] is_a: EFO:0000309 ! Burkitts lymphoma is_a: EFO:1000157 ! Central Nervous System Lymphoma intersection_of: EFO:0000309 ! Burkitts lymphoma intersection_of: EFO:0000784 UBERON:0001017 ! has_disease_location central nervous system property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2023-08-10T13:00:37Z xsd:dateTime [Term] id: EFO:0021517 name: arachidonate 20:4n6-to-dihomo-linolenate 20:3n3 or n6 ratio def: "Quantification of the ratio of arachidonate 20:4n6-to-dihomo-linolenate 20:3n3 or n6 ratio in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T11:39:28Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021518 name: linoleate 18:2n6-to-dihomo-linolenate 20:3n3 or n6 ratio def: "Quantification of the ratio of linoleate 18:2n6-to-dihomo-linolenate 20:3n3 or n6 ratio in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T11:39:39Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021519 name: linoleate 18:2n6-to-X-12442-5,8-tetradecadienoate ratio def: "Quantification of the ratio of linoleate 18:2n6-to-X-12442-5,8-tetradecadienoate ratio in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T11:39:53Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021520 name: histiocytic neoplasm def: "Histiocytic tumors are a heterogeneous group of tumors and tumorlike masses commonly associated with histologically identical extracranial lesions." [] is_a: EFO:1000297 ! Histiocytic and Dendritic Cell Neoplasm property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2023-08-10T13:07:22Z xsd:dateTime [Term] id: EFO:0021521 name: phenyllactate-to-phenylalanine ratio def: "Quantification of the ratio of phenyllactate-to-phenylalanine ratio in a sample." [] xref: PMID:24816252 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T11:40:15Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021522 name: urinary sodium measurement def: "A quantitative measurement of the total amount of sodium present in a sample of urine." [] synonym: "sodium in urine" EXACT [] xref: PMID:31085678 is_a: EFO:0005116 ! urinary metabolite measurement property_value: createdBy https://orcid.org/0000-0002-2417-7324 xsd:string property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T12:02:38Z xsd:dateTime [Term] id: EFO:0021523 name: examination for neoplasm def: "A specialized examination or inspection meant to identifying an increased risk of neoplasm." [] synonym: "neoplasm screening test" EXACT [] is_a: EFO:0002571 ! medical procedure property_value: createdBy https://orcid.org/0000-0002-2417-7324 xsd:string property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T12:04:55Z xsd:dateTime [Term] id: EFO:0021524 name: non-alcoholic pancreatitis def: "Acute or chronic inflammation of the pancreas not due to excessive alcohol drinking." [] xref: PMID:35331647 is_a: EFO:0000278 ! pancreatitis property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T12:30:29Z xsd:dateTime [Term] id: EFO:0021525 name: renal overload-type gout def: "A subtype of gout based on clinical parameters, eg. fractional excretion of uric acid above 5.5%." [] xref: PMID:35148957 is_a: EFO:0004274 ! gout property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T12:57:25Z xsd:dateTime [Term] id: EFO:0021526 name: 4C-seq def: "Circular chromosome conformation capture combined with high-throughput sequencing." [http://orcid.org/0000-0002-8674-0039, PMID:22961246] is_a: EFO:0003740 ! assay by sequencer is_a: EFO:0009967 ! ligation-mediated chromosome conformation capture assay property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T13:31:18Z xsd:dateTime [Term] id: EFO:0021527 name: blood arsenic measurement def: "Quantification of arsenic in a blood sample." [] xref: PMID:35501403 is_a: EFO:0007574 ! blood toxic metal measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T14:05:05Z xsd:dateTime property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0021528 name: blood barium measurement def: "Quantification of barium in a blood sample." [] xref: PMID:35501403 is_a: EFO:0007574 ! blood toxic metal measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T14:06:48Z xsd:dateTime property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0021529 name: blood rubidium measurement def: "Quantification of rubidium in a blood sample." [] xref: PMID:35501403 is_a: EFO:0007574 ! blood toxic metal measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T14:07:11Z xsd:dateTime property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0021530 name: blood tin measurement def: "Quantification of tin in a blood sample." [] xref: PMID:35501403 is_a: EFO:0007574 ! blood toxic metal measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T14:07:33Z xsd:dateTime property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0021531 name: blood strontium measurement def: "Quantification of strontium in a blood sample." [] xref: PMID:35501403 is_a: EFO:0007574 ! blood toxic metal measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T14:07:50Z xsd:dateTime property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0021532 name: blood titanium measurement def: "Quantification of titanium in a blood sample." [] xref: PMID:35501403 is_a: EFO:0007574 ! blood toxic metal measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T14:08:16Z xsd:dateTime property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0021533 name: blood vanadium measurement def: "Quantification of vanadium in a blood sample." [] xref: PMID:35501403 is_a: EFO:0007574 ! blood toxic metal measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T14:08:38Z xsd:dateTime property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0021534 name: abdominal fat cell number def: "Quanitification of abdominal fat cells in a sample." [] xref: PMID:35320353 is_a: EFO:0004764 ! adipose tissue measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-12T16:31:59Z xsd:dateTime [Term] id: EFO:0021535 name: response to Par-4 dependent chemotherapy def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of Par-4 dependent chemotherapy stimulus." [] xref: PMID:35322040 is_a: GO:0097327 ! response to antineoplastic agent property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-13T07:46:41Z xsd:dateTime [Term] id: EFO:0021536 name: irritable bowel syndrome symptom measurement def: "Quantification of irritable bowel syndrome symptoms for instance using the IBS Symptom Severity Scale assessing pain frequency and intensity, bowel dysfunction or bloating." [] synonym: "IBS symptom measurement" EXACT [] xref: PMID:35401282 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:0000555 ! is_about irritable bowel syndrome property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-13T08:26:36Z xsd:dateTime [Term] id: EFO:0021537 name: transferrin glycosylation measurement def: "Quantification of N-linked transferrin glycans in a sample." [] xref: PMID:35332118 is_a: EFO:0006341 ! transferrin measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-13T08:46:48Z xsd:dateTime [Term] id: EFO:0021538 name: N-acetylornithine measurement def: "Quantification of the amount of N-acetylornithine in a sample." [] xref: PMID:27073872 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-07-13T09:32:58Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021539 name: X-11244 measurement def: "Quantification of the amount of X-11244 in a sample." [] xref: PMID:27073872 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-07-13T09:33:17Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021540 name: X-11255 measurement def: "Quantification of the amount of X-11255 in a sample." [] xref: PMID:27073872 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-07-13T09:33:30Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021541 name: X-11421 measurement def: "Quantification of the amount of X-11421 in a sample." [] xref: PMID:27073872 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-07-13T09:33:40Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021542 name: (S)-(-)-2-Hydroxyisocaproic acid measurement def: "Quantification of the amount of (S)-(-)-2-Hydroxyisocaproic acid measurement in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021543 name: 1-Methylhistidine measurement def: "Quantification of the amount of 1-Methylhistidine measurement in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021544 name: 1,3-Dimethyluric acid measurement def: "Quantification of the amount of 1,3-Dimethyluric acid measurement in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021545 name: 1,3,7-trimethyluric acid measurement def: "Quantification of the amount of 1,3,7-trimethyluric acid measurement in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021546 name: 1,4-dihydro-1-Methyl-4-oxo-3-pyridinecarboxamide measurement def: "Quantification of the amount of 1,4-dihydro-1-Methyl-4-oxo-3-pyridinecarboxamide measurement in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021547 name: 1,7-Dimethylxanthine measurement def: "Quantification of the amount of 1,7-Dimethylxanthine in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021548 name: 2-(dimethylamino) guanosine measurement def: "Quantification of the amount of 2-(dimethylamino) guanosine in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021549 name: 2-Aminoethanesulfonic acid measurement def: "Quantification of the amount of 2-Aminoethanesulfonic acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021550 name: 2-Hydroxybutanoic acid measurement def: "Quantification of the amount of 2-Hydroxybutanoic acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021551 name: 2-Hydroxyisocaproic acid measurement def: "Quantification of the amount of 2-Hydroxyisocaproic acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021552 name: 2-Methylsuccinic acid measurement def: "Quantification of the amount of 2-Methylsuccinic acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021553 name: 2-Picolinic acid measurement def: "Quantification of the amount of 2-Picolinic acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021554 name: 2,3-dimethylsuccinic acid measurement def: "Quantification of the amount of 2,3-dimethylsuccinic acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021555 name: 2,6-Diaminooimelic acid measurement def: "Quantification of the amount of 2,6-Diaminooimelic acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021556 name: 3-(3-hydroxyphenyl) propionate acid measurement def: "Quantification of the amount of 3-(3-hydroxyphenyl) propionate acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021557 name: 3-Hydroxy-3-methyl butyric acid measurement def: "Quantification of the amount of 3-Hydroxy-3-methyl butyric acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021558 name: 3-Hydroxyhippuric acid (m-Hydroxyhippuricacid) measurement def: "Quantification of the amount of 3-Hydroxyhippuric acid (m-Hydroxyhippuricacid) in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021559 name: 3-Indolebutyric acid measurement def: "Quantification of the amount of 3-Indolebutyric acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021560 name: 3-Indolepropionic acid measurement def: "Quantification of the amount of 3-Indolepropionic acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021561 name: 3-Methylcrotonyl glycine measurement def: "Quantification of the amount of 3-Methylcrotonyl glycine in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021562 name: 3-N-Methyl-L-histidine measurement def: "Quantification of the amount of 3-N-Methyl-L-histidine in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021563 name: 3,3',5-Triiodo-L-thyronine measurement def: "Quantification of the amount of 3,3',5-Triiodo-L-thyronine in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021564 name: 3,4,5-Trimethoxycinnamic acid measurement def: "Quantification of the amount of 3,4,5-Trimethoxycinnamic acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021565 name: 4-Acetamidobutyric acid measurement def: "Quantification of the amount of 4-Acetamidobutyric acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021566 name: 4-Guanidinobutyric acid measurement def: "Quantification of the amount of 4-Guanidinobutyric acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021567 name: 4-Hydroxybenzaldehyde measurement def: "Quantification of the amount of 4-Hydroxybenzaldehyde in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021568 name: 4-Nitrophenol measurement def: "Quantification of the amount of 4-Nitrophenol in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021569 name: 4-Pyridoxic acid measurement def: "Quantification of the amount of 4-Pyridoxic acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021570 name: 5-Methyluridine measurement def: "Quantification of the amount of 5-Methyluridine in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021571 name: 5'-Deoxy-5'-(methylthio) adenosine measurement def: "Quantification of the amount of 5'-Deoxy-5'-(methylthio) adenosine in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021572 name: 9,10-dihome measurement def: "Quantification of the amount of 9,10-dihome in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021573 name: Adenine measurement def: "Quantification of the amount of Adenine in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021574 name: Adenosine 5'-monophosphate measurement def: "Quantification of the amount of Adenosine 5'-monophosphate in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021575 name: Adipic acid measurement def: "Quantification of the amount of Adipic acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021576 name: Asp-phe measurement def: "Quantification of the amount of Asp-phe in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021577 name: Azelaic acid measurement def: "Quantification of the amount of Azelaic acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021578 name: Caffeic acid measurement def: "Quantification of the amount of Caffeic acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021579 name: obsolete_Creatine measurement def: "Quantification of the amount of Creatine in a sample." [] xref: PMID:33634981 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.45.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication.\n\nUse: http://www.ebi.ac.uk/efo/EFO_0010472" xsd:string property_value: IAO:0000117 "Elizabeth Lewis" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0010472 [Term] id: EFO:0021580 name: Cyclic AMP measurement def: "Quantification of the amount of Cyclic AMP in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021581 name: D-2-Aminobutyric acid measurement def: "Quantification of the amount of D-2-Aminobutyric acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021582 name: D-Arabinose measurement def: "Quantification of the amount of D-Arabinose in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021583 name: D-Erythronolactone measurement def: "Quantification of the amount of D-Erythronolactone in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021584 name: D-Fructose measurement def: "Quantification of the amount of D-Fructose in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021585 name: D-Glucopyranose measurement def: "Quantification of the amount of D-Glucopyranose in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021586 name: D-Glucose measurement def: "Quantification of the amount of D-Glucose in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021587 name: D-Lactic acid measurement def: "Quantification of the amount of D-Lactic acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021588 name: D-Malic acid measurement def: "Quantification of the amount of D-Malic acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021589 name: D-Mannose measurement def: "Quantification of the amount of D-Mannose in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021590 name: D-Sorbitol measurement def: "Quantification of the amount of D-Sorbitol in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021591 name: D-Sucrose measurement def: "Quantification of the amount of D-Sucrose in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021592 name: D-Trehalose measurement def: "Quantification of the amount of D-Trehalose in a sample." [] synonym: "trehalose measurement" EXACT [] xref: HMDB:HMDB0000975 xref: KEGG COMPOUND:C01083 xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021593 name: Deoxycholic acid measurement def: "Quantification of the amount of Deoxycholic acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021594 name: DL-P-hydroxyphenyllactic acid measurement def: "Quantification of the amount of DL-P-hydroxyphenyllactic acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021595 name: Dodecanedioic aicd measurement def: "Quantification of the amount of Dodecanedioic aicd in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021596 name: Dulcitol measurement def: "Quantification of the amount of Dulcitol in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021597 name: Eudesmic acid (3,4,5-trimethoxybenzoic acid) measurement def: "Quantification of the amount of Eudesmic acid (3,4,5-trimethoxybenzoic acid) in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021598 name: Gluconic acid measurement def: "Quantification of the amount of Gluconic acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021599 name: Glycochenodeoxycholic acid measurement def: "Quantification of the amount of Glycochenodeoxycholic acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021600 name: Glycoursodeoxycholic acid measurement def: "Quantification of the amount of Glycoursodeoxycholic acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021601 name: Hexanoyl glycine measurement def: "Quantification of the amount of Hexanoyl glycine in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021602 name: Homovanillic acid measurement def: "Quantification of the amount of Homovanillic acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021603 name: Hydrocinnamic acid measurement def: "Quantification of the amount of Hydrocinnamic acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021604 name: Hypoxanthine measurement def: "Quantification of the amount of Hypoxanthine in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021605 name: Indole-5-carboxylic acid measurement def: "Quantification of the amount of Indole-5-carboxylic acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021606 name: obsolete_Inositol measurement def: "Quantification of the amount of Inositol in a sample." [] xref: PMID:33634981 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.45.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication.\n\nUse: http://www.ebi.ac.uk/efo/EFO_0010504" xsd:string property_value: IAO:0000117 "Elizabeth Lewis" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0010504 [Term] id: EFO:0021607 name: Isonicotinamide measurement def: "Quantification of the amount of Isonicotinamide in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021608 name: L-2-Aminobutyric acid measurement def: "Quantification of the amount of L-2-Aminobutyric acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021609 name: L-3-Phenyllactic acid measurement def: "Quantification of the amount of L-3-Phenyllactic acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021610 name: L-Asparagine anhydrous measurement def: "Quantification of the amount of L-Asparagine anhydrous in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021611 name: L-Aspartic acid measurement def: "Quantification of the amount of L-Aspartic acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021612 name: L-Carnitine measurement def: "Quantification of the amount of L-Carnitine in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021613 name: L-Citrulline measurement def: "Quantification of the amount of L-Citrulline in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021614 name: L-Cysteine measurement def: "Quantification of the amount of L-Cysteine in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021615 name: L-Cystine measurement def: "Quantification of the amount of L-Cystine in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021616 name: L-Glutamic acid measurement def: "Quantification of the amount of L-Glutamic acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021617 name: L-Glutamine measurement def: "Quantification of the amount of L-Glutamine in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021618 name: L-Histidine measurement def: "Quantification of the amount of L-Histidine in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021619 name: L-Isoleucine measurement def: "Quantification of the amount of L-Isoleucine in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021620 name: L-Leucine measurement def: "Quantification of the amount of L-Leucine in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021621 name: L-Lysine measurement def: "Quantification of the amount of L-Lysine in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021622 name: L-Malic acid measurement def: "Quantification of the amount of L-Malic acid in a sample." [] synonym: "malic acid measurement" EXACT [] xref: HMDB:HMDB0000156 xref: KEGG COMPOUND:C00149 xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021623 name: L-Methionine measurement def: "Quantification of the amount of L-Methionine in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021624 name: L-Ornithine measurement def: "Quantification of the amount of L-Ornithine in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021625 name: L-Phenylalanine measurement def: "Quantification of the amount of L-Phenylalanine in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021626 name: L-Pipecolic acid measurement def: "Quantification of the amount of L-Pipecolic acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021627 name: L-Proline measurement def: "Quantification of the amount of L-Proline in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021628 name: L-Pyroglutamic acid measurement def: "Quantification of the amount of L-Pyroglutamic acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021629 name: L-Saccharopine measurement def: "Quantification of the amount of L-Saccharopine in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021630 name: L-Serine measurement def: "Quantification of the amount of L-Serine in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021631 name: L-Threonine measurement def: "Quantification of the amount of L-Threonine in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021632 name: L-Thyroxine measurement def: "Quantification of the amount of L-Thyroxine in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021633 name: L-Tryptophan measurement def: "Quantification of the amount of L-Tryptophan in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021634 name: L-Tyrosine measurement def: "Quantification of the amount of L-Tyrosine in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021635 name: L-Valine measurement def: "Quantification of the amount of L-Valine in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021636 name: Lauric acid measurement def: "Quantification of the amount of Lauric acid / Dodecanoic acid (C12:0) in a sample." [] synonym: "Dodecanoic acid measurement" EXACT [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021637 name: LysoPA 16:0 measurement def: "Quantification of the amount of LysoPA 16:0 in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021638 name: LysoPC 14:0 measurement def: "Quantification of the amount of LysoPC 14:0 in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021639 name: LysoPC 16:0 measurement def: "Quantification of the amount of LysoPC 16:0 in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021640 name: LysoPC 16:1 measurement def: "Quantification of the amount of LysoPC 16:1 in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021641 name: LysoPC 18:0 measurement def: "Quantification of the amount of LysoPC 18:0 in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021642 name: LysoPC 18:1 measurement def: "Quantification of the amount of LysoPC 18:1 in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021643 name: LysoPC 20:0 measurement def: "Quantification of the amount of LysoPC 20:0 in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021644 name: LysoPC 20:1 measurement def: "Quantification of the amount of LysoPC 20:1 in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021645 name: LysoPC 20:2 measurement def: "Quantification of the amount of LysoPC 20:2 in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021646 name: LysoPE 14:0 measurement def: "Quantification of the amount of LysoPE 14:0 in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021647 name: LysoPE 16:0 measurement def: "Quantification of the amount of LysoPE 16:0 in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021648 name: LysoPE 18:1 measurement def: "Quantification of the amount of LysoPE 18:1 in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021649 name: Maltose measurement def: "Quantification of the amount of Maltose in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021650 name: Methionine sulfoxide measurement def: "Quantification of the amount of Methionine sulfoxide in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021651 name: Methylmalonic acid measurement def: "Quantification of the amount of Methylmalonic acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021652 name: Myoinositol measurement def: "Quantification of the amount of Myoinositol in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021653 name: N-acetyl-l-leucine measurement def: "Quantification of the amount of N-acetyl-l-leucine in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021654 name: N-Acetyl-L-tyrosine measurement def: "Quantification of the amount of N-Acetyl-L-tyrosine in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021655 name: N,N-Dimethylglycine measurement def: "Quantification of the amount of N,N-Dimethylglycine in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021656 name: N6-Acetyl-L-lysine measurement def: "Quantification of the amount of N6-Acetyl-L-lysine in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021657 name: N6-Succinyl adenosine measurement def: "Quantification of the amount of N6-Succinyl adenosine in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021658 name: p-Hydroxyphenyl acetic acid measurement def: "Quantification of the amount of p-Hydroxyphenyl acetic acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021659 name: Palmitaldehyde measurement def: "Quantification of the amount of Palmitaldehyde in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021660 name: Palmitic acid measurement def: "Quantification of the amount of Palmitic acid / Hexadecanoic acid (C16:0) in a sample." [] synonym: "Hexadecanoic acid measurement" EXACT [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021661 name: Phenylacetyl-L-glutamine measurement def: "Quantification of the amount of Phenylacetyl-L-glutamine in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021662 name: Phenyllactate (PLA) measurement def: "Quantification of the amount of Phenyllactate (PLA) in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021663 name: Phenylpyruvic acid measurement def: "Quantification of the amount of Phenylpyruvic acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021664 name: Pipecolinic acid measurement def: "Quantification of the amount of Pipecolinic acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021665 name: Riboflavin measurement def: "Quantification of the amount of Riboflavin in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021666 name: S-(5-Adenosy)-L-homocysteine measurement def: "Quantification of the amount of S-(5-Adenosy)-L-homocysteine in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021667 name: S-Sulfo-L-cysteine measurement def: "Quantification of the amount of S-Sulfo-L-cysteine in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021668 name: Sarcosine measurement def: "Quantification of the amount of Sarcosine in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021669 name: Succinic acid measurement def: "Quantification of the amount of Succinic acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021670 name: Taurochenodesoxycholic acid measurement def: "Quantification of the amount of Taurochenodesoxycholic acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021671 name: Taurocholic acid sodium salt hydrate measurement def: "Quantification of the amount of Taurocholic acid sodium salt hydrate in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021672 name: Tauroursodeoxycholic acid measurement def: "Quantification of the amount of Tauroursodeoxycholic acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021673 name: obsolete_Theobromine measurement def: "Quantification of the amount of Theobromine in a sample." [] xref: PMID:33634981 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.45.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication.\n\nUse: http://www.ebi.ac.uk/efo/EFO_0021179" xsd:string property_value: IAO:0000117 "Elizabeth Lewis" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0021179 [Term] id: EFO:0021674 name: trans,trans-Muconic acid measurement def: "Quantification of the amount of trans,trans-Muconic acid in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021675 name: Uridine 5-monophosphate measurement def: "Quantification of the amount of Uridine 5-monophosphate in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021676 name: Urocanic acid (RG) measurement def: "Quantification of the amount of Urocanic acid (RG) in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021677 name: beta-Nicotinamide mononucleotide measurement def: "Quantification of the amount of beta-Nicotinamide mononucleotide in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021678 name: beta-Pseudouridine measurement def: "Quantification of the amount of beta-Pseudouridine in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021679 name: L-Histidine to Uric acid ratio def: "Quantification of the ratio of L-Histidine to Uric acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021680 name: Cis-5,8,11,14,17-eicosapentaenoic acid (C20:5n3) to LysoPC 20:2 ratio def: "Quantification of the ratio of Cis-5,8,11,14,17-eicosapentaenoic acid (C20:5n3) to LysoPC 20:2 ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021681 name: L-Tryptophan to 3-Indolepropionic acid ratio def: "Quantification of the ratio of L-Tryptophan to 3-Indolepropionic acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021682 name: 3-Indolepropionic acid to L-Lysine ratio def: "Quantification of the ratio of 3-Indolepropionic acid to L-Lysine ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021683 name: 3-Indolepropionic acid to Uridine ratio def: "Quantification of the ratio of 3-Indolepropionic acid to Uridine ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021684 name: 3-Indolepropionic acid to Adenine ratio def: "Quantification of the ratio of 3-Indolepropionic acid to Adenine ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021685 name: 3-Indolepropionic acid to L-Methionine ratio def: "Quantification of the ratio of 3-Indolepropionic acid to L-Methionine ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021686 name: L-Phenylalanine to 3-Indolepropionic acid ratio def: "Quantification of the ratio of L-Phenylalanine to 3-Indolepropionic acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021687 name: 3-Indolepropionic acid to L-Tyrosine ratio def: "Quantification of the ratio of 3-Indolepropionic acid to L-Tyrosine ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021688 name: 3-Indolepropionic acid to Phenylpyruvic acid ratio def: "Quantification of the ratio of 3-Indolepropionic acid to Phenylpyruvic acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021689 name: 3-Indolepropionic acid to L-Ornithine ratio def: "Quantification of the ratio of 3-Indolepropionic acid to L-Ornithine ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021690 name: L-Glutamine to 3-Indolepropionic acid ratio def: "Quantification of the ratio of L-Glutamine to 3-Indolepropionic acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021691 name: 3-Indolepropionic acid to Taurocholic acid sodium salt hydrate ratio def: "Quantification of the ratio of 3-Indolepropionic acid to Taurocholic acid sodium salt hydrate ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021692 name: 3-Indolepropionic acid to L-Valine ratio def: "Quantification of the ratio of 3-Indolepropionic acid to L-Valine ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021693 name: Asp-phe to 3-Indolepropionic acid ratio def: "Quantification of the ratio of Asp-phe to 3-Indolepropionic acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021694 name: L-Histidine to 3-Indolepropionic acid ratio def: "Quantification of the ratio of L-Histidine to 3-Indolepropionic acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021695 name: 3-Indolepropionic acid to 3,3',5-Triiodo-L-thyronine ratio def: "Quantification of the ratio of 3-Indolepropionic acid to 3,3',5-Triiodo-L-thyronine ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021696 name: D-Arabinose to 3-Indolepropionic acid ratio def: "Quantification of the ratio of D-Arabinose to 3-Indolepropionic acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021697 name: 3-Indolepropionic acid to LysoPC 16:0 ratio def: "Quantification of the ratio of 3-Indolepropionic acid to LysoPC 16:0 ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021698 name: L-Threonine to 3-Indolepropionic acid ratio def: "Quantification of the ratio of L-Threonine to 3-Indolepropionic acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021699 name: 3-Indolepropionic acid to LysoPC 18:1 ratio def: "Quantification of the ratio of 3-Indolepropionic acid to LysoPC 18:1 ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021700 name: 3-Indolepropionic acid to N6-Acetyl-L-lysine ratio def: "Quantification of the ratio of 3-Indolepropionic acid to N6-Acetyl-L-lysine ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021701 name: L-Thyroxine to 3-Indolepropionic acid ratio def: "Quantification of the ratio of L-Thyroxine to 3-Indolepropionic acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021702 name: L-Aspartic acid to 3-Indolepropionic acid ratio def: "Quantification of the ratio of L-Aspartic acid to 3-Indolepropionic acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021703 name: 3-Indolepropionic acid to Trimethylamine N-oxide ratio def: "Quantification of the ratio of 3-Indolepropionic acid to Trimethylamine N-oxide ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021704 name: 3-Indolepropionic acid to Uric acid ratio def: "Quantification of the ratio of 3-Indolepropionic acid to Uric acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021705 name: 3-Indolepropionic acid to D-Fructose ratio def: "Quantification of the ratio of 3-Indolepropionic acid to D-Fructose ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021706 name: 3-Indolepropionic acid to Sarcosine ratio def: "Quantification of the ratio of 3-Indolepropionic acid to Sarcosine ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021707 name: 3-Indolepropionic acid to Choline ratio def: "Quantification of the ratio of 3-Indolepropionic acid to Choline ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021708 name: L-Glutamic acid to 3-Indolepropionic acid ratio def: "Quantification of the ratio of L-Glutamic acid to 3-Indolepropionic acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021709 name: L-Serine to 3-Indolepropionic acid ratio def: "Quantification of the ratio of L-Serine to 3-Indolepropionic acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021710 name: 3-Indolepropionic acid to S-(5-Adenosy) -L-homocysteine ratio def: "Quantification of the ratio of 3-Indolepropionic acid to S-(5-Adenosy) -L-homocysteine ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021711 name: 3-Indolepropionic acid to D-2-Aminobutyric acid ratio def: "Quantification of the ratio of 3-Indolepropionic acid to D-2-Aminobutyric acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021712 name: 3-Indolepropionic acid to LysoPC 16:1 ratio def: "Quantification of the ratio of 3-Indolepropionic acid to LysoPC 16:1 ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021713 name: 3-Indolepropionic acid to Hippuric acid ratio def: "Quantification of the ratio of 3-Indolepropionic acid to Hippuric acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021714 name: 3-Indolepropionic acid to Pipecolinic acid ratio def: "Quantification of the ratio of 3-Indolepropionic acid to Pipecolinic acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021715 name: L-Citrulline to 3-Indolepropionic acid ratio def: "Quantification of the ratio of L-Citrulline to 3-Indolepropionic acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021716 name: 3-Indolepropionic acid to L-Saccharopine ratio def: "Quantification of the ratio of 3-Indolepropionic acid to L-Saccharopine ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021717 name: 3-Indolepropionic acid to 5-oxoproline ratio def: "Quantification of the ratio of 3-Indolepropionic acid to 5-oxoproline ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021718 name: L-Asparagine Anhydrous to 3-Indolepropionic acid ratio def: "Quantification of the ratio of L-Asparagine Anhydrous to 3-Indolepropionic acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021719 name: 3-Indolepropionic acid to Kinurenine ratio def: "Quantification of the ratio of 3-Indolepropionic acid to Kinurenine ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021720 name: 3-Indolepropionic acid to LysoPC 18:0 ratio def: "Quantification of the ratio of 3-Indolepropionic acid to LysoPC 18:0 ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021721 name: 3-Indolepropionic acid to L-2-Aminobutyric acid ratio def: "Quantification of the ratio of 3-Indolepropionic acid to L-2-Aminobutyric acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021722 name: 3-Indolepropionic acid to 2-Picolinic acid ratio def: "Quantification of the ratio of 3-Indolepropionic acid to 2-Picolinic acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021723 name: 3-Indolepropionic acid to 2-Methylsuccinic acid ratio def: "Quantification of the ratio of 3-Indolepropionic acid to 2-Methylsuccinic acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021724 name: 3-Indolepropionic acid to LysoPC 20:2 ratio def: "Quantification of the ratio of 3-Indolepropionic acid to LysoPC 20:2 ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021725 name: 3-Indolepropionic acid to 4-Guanidinobutyric acid ratio def: "Quantification of the ratio of 3-Indolepropionic acid to 4-Guanidinobutyric acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021726 name: 3-Indolepropionic acid to Isonicotinamide ratio def: "Quantification of the ratio of 3-Indolepropionic acid to Isonicotinamide ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021727 name: 5-Methyluridine to 3-Indolepropionic acid ratio def: "Quantification of the ratio of 5-Methyluridine to 3-Indolepropionic acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021728 name: 3-Indolepropionic acid to N-acetylglycine ratio def: "Quantification of the ratio of 3-Indolepropionic acid to N-acetylglycine ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021729 name: 3-Indolepropionic acid to N-Acetyl-L-tyrosine ratio def: "Quantification of the ratio of 3-Indolepropionic acid to N-Acetyl-L-tyrosine ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021730 name: L-Cystine to 3-Indolepropionic acid ratio def: "Quantification of the ratio of L-Cystine to 3-Indolepropionic acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021731 name: 3-Indolepropionic acid to Cyclic AMP ratio def: "Quantification of the ratio of 3-Indolepropionic acid to Cyclic AMP ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021732 name: 3-Indolepropionic acid to L-Carnitine ratio def: "Quantification of the ratio of 3-Indolepropionic acid to L-Carnitine ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021733 name: 3-Indolepropionic acid to 1,4-dihydro-1-Methyl-4-oxo-3-pyridinecarboxamide ratio def: "Quantification of the ratio of 3-Indolepropionic acid to 1,4-dihydro-1-Methyl-4-oxo-3-pyridinecarboxamide ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021734 name: 3-Indolepropionic acid to Creatine ratio def: "Quantification of the ratio of 3-Indolepropionic acid to Creatine ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021735 name: 3-Indolepropionic acid to Dodecanedioic aicd ratio def: "Quantification of the ratio of 3-Indolepropionic acid to Dodecanedioic aicd ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021736 name: 3-Indolepropionic acid to LysoPC 20:1 ratio def: "Quantification of the ratio of 3-Indolepropionic acid to LysoPC 20:1 ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021737 name: 3-Indolepropionic acid to L-Arginine ratio def: "Quantification of the ratio of 3-Indolepropionic acid to L-Arginine ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021738 name: 3-Indolepropionic acid to Kynurenic acid ratio def: "Quantification of the ratio of 3-Indolepropionic acid to Kynurenic acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021739 name: 3-Indolepropionic acid to 2-Hydroxyisocaproic acid ratio def: "Quantification of the ratio of 3-Indolepropionic acid to 2-Hydroxyisocaproic acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021740 name: 3-Indolepropionic acid to 4-Pyridoxic acid ratio def: "Quantification of the ratio of 3-Indolepropionic acid to 4-Pyridoxic acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021741 name: 3-Indolepropionic acid to L-Pipecolic acid ratio def: "Quantification of the ratio of 3-Indolepropionic acid to L-Pipecolic acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021742 name: 3-Indolepropionic acid to 3-Hydroxybutyrate ratio def: "Quantification of the ratio of 3-Indolepropionic acid to 3-Hydroxybutyrate ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021743 name: 3-Indolepropionic acid to (S)-(-)-2-Hydroxyisocaproic acid ratio def: "Quantification of the ratio of 3-Indolepropionic acid to (S)-(-)-2-Hydroxyisocaproic acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021744 name: 3-Indolepropionic acid to Creatinine ratio def: "Quantification of the ratio of 3-Indolepropionic acid to Creatinine ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021745 name: L-Pyroglutamic acid to 3-Indolepropionic acid ratio def: "Quantification of the ratio of L-Pyroglutamic acid to 3-Indolepropionic acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021746 name: 3-Indolepropionic acid to gamma-Linolenic acid (C18:3n6) ratio def: "Quantification of the ratio of 3-Indolepropionic acid to gamma-Linolenic acid (C18:3n6) ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021747 name: 3-Indolepropionic acid to N,N-Dimethylglycine ratio def: "Quantification of the ratio of 3-Indolepropionic acid to N,N-Dimethylglycine ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021748 name: 3-Indolepropionic acid to SubericAcid ratio def: "Quantification of the ratio of 3-Indolepropionic acid to SubericAcid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021749 name: 3-Indolepropionic acid to 2-(dimethylamino) guanosine ratio def: "Quantification of the ratio of 3-Indolepropionic acid to 2-(dimethylamino) guanosine ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021750 name: 3-Indolepropionic acid to LysoPC 14:0 ratio def: "Quantification of the ratio of 3-Indolepropionic acid to LysoPC 14:0 ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021751 name: 3-Indolepropionic acid to 4-Hydroxybenzaldehyde ratio def: "Quantification of the ratio of 3-Indolepropionic acid to 4-Hydroxybenzaldehyde ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021752 name: 3-Indolepropionic acid to Azelaic acid ratio def: "Quantification of the ratio of 3-Indolepropionic acid to Azelaic acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021753 name: 3-Indolepropionic acid to cis-5,8,11,14,17-Eicosapentaenoic acid C20:5n3) ratio def: "Quantification of the ratio of 3-Indolepropionic acid to cis-5,8,11,14,17-Eicosapentaenoic acid C20:5n3) ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021754 name: 3-Indolepropionic acid to Hypoxanthine ratio def: "Quantification of the ratio of 3-Indolepropionic acid to Hypoxanthine ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021755 name: L-Proline to 3-Indolepropionic acid ratio def: "Quantification of the ratio of L-Proline to 3-Indolepropionic acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021756 name: D-Trehalose to 3-Indolepropionic acid ratio def: "Quantification of the ratio of D-Trehalose to 3-Indolepropionic acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021757 name: 3-Indolepropionic acid to Methylmalonic acid ratio def: "Quantification of the ratio of 3-Indolepropionic acid to Methylmalonic acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021758 name: 3-Indolepropionic acid to alpha-Linolenic acid (C18:3n3) ratio def: "Quantification of the ratio of 3-Indolepropionic acid to alpha-Linolenic acid (C18:3n3) ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021759 name: 3-Indolepropionic acid to S-Sulfo-L-cysteine ratio def: "Quantification of the ratio of 3-Indolepropionic acid to S-Sulfo-L-cysteine ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021760 name: 3-Indolepropionic acid to LysoPC 20:0 ratio def: "Quantification of the ratio of 3-Indolepropionic acid to LysoPC 20:0 ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021761 name: 3-Indolepropionic acid to beta-Pseudouridine ratio def: "Quantification of the ratio of 3-Indolepropionic acid to beta-Pseudouridine ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021762 name: Dulcitol to 3-Indolepropionic acid ratio def: "Quantification of the ratio of Dulcitol to 3-Indolepropionic acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021763 name: 3-Indolepropionic acid to 4-Nitrophenol ratio def: "Quantification of the ratio of 3-Indolepropionic acid to 4-Nitrophenol ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021764 name: 3-Indolepropionic acid to Indole-5-carboxylic acid ratio def: "Quantification of the ratio of 3-Indolepropionic acid to Indole-5-carboxylic acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021765 name: Pantothenate to 3-Indolepropionic acid ratio def: "Quantification of the ratio of Pantothenate to 3-Indolepropionic acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021766 name: 3-Indolepropionic acid to Lauric acid ratio def: "Quantification of the ratio of 3-Indolepropionic acid to Lauric acid/Dodecanoic acid (C12:0) ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021767 name: 3-Indolepropionic acid to Homovanillic acid ratio def: "Quantification of the ratio of 3-Indolepropionic acid to Homovanillic acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021768 name: N-acetyl-l-leucine to 3-Indolepropionic acid ratio def: "Quantification of the ratio of N-acetyl-l-leucine to 3-Indolepropionic acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021769 name: 3-Indolepropionic acid to Myoinositol ratio def: "Quantification of the ratio of 3-Indolepropionic acid to Myoinositol ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021770 name: 3-Indolepropionic acid to Urocanic acid (RG) ratio def: "Quantification of the ratio of 3-Indolepropionic acid to Urocanic acid (RG) ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021771 name: Riboflavin to 3-Indolepropionic acid ratio def: "Quantification of the ratio of Riboflavin to 3-Indolepropionic acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021772 name: 3-Indolepropionic acid to Maltose ratio def: "Quantification of the ratio of 3-Indolepropionic acid to Maltose ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021773 name: D-Malic acid to 3-Indolepropionic acid ratio def: "Quantification of the ratio of D-Malic acid to 3-Indolepropionic acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021774 name: D-Sucrose to 3-Indolepropionic acid ratio def: "Quantification of the ratio of D-Sucrose to 3-Indolepropionic acid ratio in a sample." [] xref: PMID:33634981 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021775 name: neutrophil extracellular trap measurement def: "Quantification of the amount of neutrophil extracellular traps in a sample. Neutrophil extracellular traps are extracellular chromatin structures that are produced by neutrophils and have antimicrobial properties." [] comment: To be reviewed for inclusion in OBA. synonym: "NET measurement" EXACT [] is_a: EFO:0007937 ! blood protein measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2023-08-14T08:20:52Z xsd:dateTime [Term] id: EFO:0021776 name: osteopontin measurement def: "Quantification of the amount of osteopontin protein in a sample" [] synonym: "bone sialoprotein 1 measurement" EXACT [] synonym: "nephropontin measurement" EXACT [] synonym: "secreted phosphoprotein 1 measurement" EXACT [] synonym: "SPP-1 measurement" EXACT [] synonym: "urinary stone protein measurement" EXACT [] synonym: "uropontin measurement" EXACT [] xref: PMID:35385482 is_a: EFO:0004555 ! glycoprotein measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-13T13:19:18Z xsd:dateTime property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0021777 name: serine:glycine ratio def: "Quantification of the ratio of serine to glycine in plasma." [] xref: PMID:35460232 is_a: EFO:0009774 ! serine measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-27T12:34:28Z xsd:dateTime [Term] id: EFO:0021778 name: uromodulin measurement def: "Quantification of circulating uromodulin." [] comment: Kidney disease biomarker. xref: PMID:35446786 is_a: EFO:0005664 ! blood metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-07-28T07:47:04Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021779 name: age at initiation of treatment def: "Age at initiation of a medical treatment, such as a drug, therapy or medical device." [] synonym: "age at first treatment" EXACT [] synonym: "age at initiation of medical treatment" EXACT [] xref: NCIT:C124440 is_a: EFO:0000246 ! age property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-08-03T09:36:16Z xsd:dateTime [Term] id: EFO:0021780 name: age at initiation of hormone replacement therapy def: "Age at initiation of hormone replacement therapy, the therapeutic use of hormones to alleviate the effects of hormone deficiency." [] is_a: EFO:0021779 ! age at initiation of treatment property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-08-03T09:39:40Z xsd:dateTime [Term] id: EFO:0021781 name: age at initiation of corrective lens use def: "Age at initiation of the use of corrective lenses, such as glasses or contact lenses, to treat an abnormality of the eye." [] is_a: EFO:0021779 ! age at initiation of treatment property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-08-03T09:40:43Z xsd:dateTime [Term] id: EFO:0021782 name: age at initiation of oral contraceptive pill use def: "Age at initiation of the use of an oral contraceptive pill." [] is_a: EFO:0021779 ! age at initiation of treatment property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-08-03T09:41:19Z xsd:dateTime [Term] id: EFO:0021783 name: age at medical procedure def: "Age at the time of a specific medical procedure or intervention intended to alter the course of a disease." [] synonym: "age at intervention" EXACT [] synonym: "age at medical intervention" EXACT [] synonym: "age at procedure" EXACT [] is_a: EFO:0000246 ! age property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-08-03T09:45:18Z xsd:dateTime [Term] id: EFO:0021784 name: age at initiation of smoking def: "Age of initation of the habit of smoking, the inhaling and exhaling of tobacco smoke." [] is_a: EFO:0000246 ! age property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-08-03T09:47:25Z xsd:dateTime [Term] id: EFO:0021785 name: age at initiation of cannabis use def: "Age of initiation of the consumption of the drug cannabis." [] synonym: "age at initiation of cannabis consumption" EXACT [] is_a: EFO:0000246 ! age property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-08-03T09:47:59Z xsd:dateTime [Term] id: EFO:0021786 name: aortic diameter def: "Measurement of the diameter of some part of the aorta." [] synonym: "aorta diameter" EXACT [] xref: PMID:34837083 is_a: EFO:0020865 ! aortic measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-08-04T09:27:16Z xsd:dateTime [Term] id: EFO:0021787 name: ascending aortic diameter def: "Measurement of the diameter of the ascending aorta." [] synonym: "ascending aorta diameter" EXACT [] xref: PMID:34837083 is_a: EFO:0021786 ! aortic diameter property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-08-04T09:28:33Z xsd:dateTime [Term] id: EFO:0021788 name: descending aortic diameter def: "Measurement of the diameter of the descending aorta." [] synonym: "descending aorta diameter" EXACT [] xref: PMID:34837083 is_a: EFO:0021786 ! aortic diameter property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-08-04T09:29:10Z xsd:dateTime [Term] id: EFO:0021789 name: cerebral volume measurement def: "Quantification of the volume of the cerebrum." [] xref: PMID:35842455 is_a: EFO:0006930 ! brain volume measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-08-05T12:40:47Z xsd:dateTime property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0021790 name: subcortical volume measurement def: "Quantification of the volume of the subcortex." [] xref: PMID:35842455 is_a: EFO:0006930 ! brain volume measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-08-05T12:41:34Z xsd:dateTime property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0021791 name: behavioural ideal cardiovascular health def: "The characteristics of a person's cardiovascular health based on a number of factors including smoking status, physical activity and BMI." [] xref: PMID:35613103 is_a: EFO:0007652 ! health trait property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-08-17T07:41:34Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021792 name: preeclampsia severity measurement def: "Quantification of the severity of the symptoms of preeclampsia." [] xref: PMID:35588731 is_a: EFO:0005278 ! cardiovascular disease biomarker measurement relationship: IAO:0000136 EFO:0000668 ! is_about preeclampsia property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-08-17T08:24:07Z xsd:dateTime [Term] id: EFO:0021793 name: oral motor function measurement def: "Quantification of oral motor skills, generally through the administration of standardised tests such as syllable repetition on single, double and multi-syllable sequences." [] xref: PMID:34315907 is_a: EFO:0007797 ! language measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-08-17T13:20:36Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021794 name: CFTR mutation carrier status def: "Quantification of the presence or absence of the CFTR mutation in an individual." [] xref: PMID:35647563 is_a: EFO:0007658 ! carrier status property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-08-18T08:00:08Z xsd:dateTime [Term] id: EFO:0021795 name: tubal factor infertility def: "Infertility caused by fallopian tube damage, preventing fertilisation or implantation." [] xref: PMID:34396400 is_a: EFO:0008560 ! female infertility property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-08-19T08:30:04Z xsd:dateTime property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021796 name: sexual dimorphism measurement def: "Quantification of the phenotypic difference between males and females, eg within anthropometric or cardiometabolic traits." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:37277458"} is_a: EFO:0001444 ! measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2023-08-14T09:07:43Z xsd:dateTime [Term] id: EFO:0021797 name: infantile hypophosphatasia def: "A rare, severe, genetic form of hypophosphatasia (HPP) characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization." [] synonym: "infantile phosphoethanolaminuria" EXACT [] synonym: "infantile rathbun disease" EXACT [] xref: DOID:0110914 xref: OMIM:241500 xref: Orphanet:247651 xref: UMLS:C0268412 is_a: MONDO:0018570 ! hypophosphatasia property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-09-01T10:12:29Z xsd:dateTime [Term] id: EFO:0021798 name: history of neurodevelopmental disorder def: "Recent history of a neurodevelopmental disorder." [] xref: ICD10CM:Z86.6 xref: SNOMEDCT:442414004 is_a: EFO:0000352 ! clinical history property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-09-01T10:15:32Z xsd:dateTime [Term] id: EFO:0021799 name: ankrd1-related dilated cardiomyopathy def: "Cardiomyopathy related to a mutation in the ankyrin repeat domain 1 gene (ANKRD1) which is characterized by dilation and contractile dysfunction of the left and right ventricles." [] xref: PMID:25961010 is_a: EFO:0000407 ! dilated cardiomyopathy property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-09-01T10:17:54Z xsd:dateTime [Term] id: EFO:0021800 name: recessive amelogenesis imperfecta def: "Recessive amelogenesis imperfecta can result from mutations in the ENAM or MMP20 gene, which provide instructions for making proteins that are essential for normal tooth development." [] {http://www.ebi.ac.uk/efo/definition_citation="https://medlineplus.gov/genetics/condition/amelogenesis-imperfecta/"} is_a: MONDO:0019507 ! amelogenesis imperfecta property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-09-01T10:30:33Z xsd:dateTime [Term] id: EFO:0021801 name: x-linked warfarin sensitivity def: "An inherited metabolic disorder that is characterized by bleeding complications when given warfarin for anticoagulation and that has_material_basis_in variation in the F9 gene on chromosome Xq27." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:29450643"} xref: DOID:0080839 xref: OMIM:301052 is_a: EFO:0000589 ! metabolic disease property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-09-01T10:45:46Z xsd:dateTime [Term] id: EFO:0021802 name: spermidine measurement def: "Quantification of the amount of spermidine in a sample." [] xref: PMID:35888728 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-09-05T09:27:09Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0021803 name: decenoylcarnitine measurement def: "Quantification of the amount of decenoylcarnitine in a sample." [] xref: PMID:35888728 is_a: EFO:0010469 ! carnitine measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-09-05T09:27:59Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0021804 name: dodecanoylcarnitine measurement def: "Quantification of the amount of dodecanoylcarnitine in a sample." [] xref: PMID:35888728 is_a: EFO:0010469 ! carnitine measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-09-05T09:29:42Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0021805 name: hydroxyvalerylcarnitine measurement def: "Quantification of the amount of hydroxyvalerylcarnitine in a sample." [] xref: PMID:35888728 is_a: EFO:0010469 ! carnitine measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-09-05T09:31:20Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0021806 name: hexadecenoylcarnitine measurement def: "Quantification of the amount of hexadecenoylcarnitine in a sample." [] xref: PMID:35888728 is_a: EFO:0010469 ! carnitine measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-09-05T09:32:00Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0021807 name: hydroxyhexadecanoylcarnitine measurement def: "Quantification of the amount of hydroxyhexadecenoylcarnitine in a sample." [] xref: PMID:35888728 is_a: EFO:0010469 ! carnitine measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-09-05T09:32:51Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0021808 name: dodecenoylcarnitine measurement def: "Quantification of the amount of dodecenoylcarnitine in a sample." [] xref: PMID:35888728 is_a: EFO:0010469 ! carnitine measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-09-05T09:33:39Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0021809 name: tetradecenoylcarnitine meaasurement def: "Quantification of the amount of tetradecenoylcarnitine in a sample." [] xref: PMID:35888728 is_a: EFO:0010469 ! carnitine measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-09-05T09:34:20Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0021810 name: putrescine measurement def: "Quantification of the amount of putrescine in a sample." [] xref: PMID:35888728 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-09-05T09:34:57Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0021811 name: lysophosphatidylcholine 26:1 measurement def: "Quantification of the amount of lysophosphatidylcholine 26:1 levels in a sample." [] xref: PMID:35888728 is_a: EFO:0010224 ! lysophosphatidylcholine measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-09-05T09:35:54Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0021812 name: phoneme awareness def: "The ability to identify and manipulate individual sounds of spoken words." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:35998220"} is_a: EFO:0004336 ! speech perception property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-09-05T13:02:34Z xsd:dateTime [Term] id: EFO:0021813 name: nociceptive flexion reflex threshold def: "The lowest noxious stimulation intensity required to trigger a reflex motor response." [] synonym: "RIII threshold" EXACT [] is_a: EFO:0001444 ! measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-09-05T13:30:01Z xsd:dateTime [Term] id: EFO:0021814 name: right ventricular diastolic volume measurement def: "Quantification of some aspect of the diastolic function of the right cardiac ventricle." [] xref: PMID:35697867 is_a: EFO:0004298 ! cardiovascular measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-09-06T09:26:55Z xsd:dateTime property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0021815 name: right ventricular systolic volume measurement def: "Quantification of some aspect of the systolic function of the right cardiac ventricle." [] xref: PMID:35697867 is_a: EFO:0004298 ! cardiovascular measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-09-06T09:28:03Z xsd:dateTime property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0021816 name: right ventricular ejection fraction measurement def: "Quantification of the volumetric fraction of blood pumped out of the right ventricle." [] xref: PMID:35697867 is_a: EFO:0005527 ! ejection fraction measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-09-06T09:30:03Z xsd:dateTime property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0021817 name: right ventricular stroke volume measurement def: "Quantification of the volume of blood ejected from the right ventricle during one heart contraction." [] {http://www.ebi.ac.uk/efo/definition_citation="https://cardiacmri.com/analysis-guide/rv-volumes-and-global-function/volumes/"} xref: PMID:35697867 is_a: EFO:0004311 ! heart function measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-09-06T09:30:47Z xsd:dateTime property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0021818 name: right ventricular diastolic volume to left ventricular diastolic volume ratio def: "The ratio of right ventricular diastolic volume to left ventricular diastolic volume." [] xref: PMID:35697867 is_a: EFO:0004298 ! cardiovascular measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-09-06T09:32:03Z xsd:dateTime property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0021819 name: right ventricular systolic volume to left ventricular systolic volume ratio def: "The ratio of right ventricular systolic volume to left ventricular systolic volume." [] xref: PMID:35697867 is_a: EFO:0004298 ! cardiovascular measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-09-06T09:33:27Z xsd:dateTime property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0021820 name: right ventricular ejection fraction to left ventricular ejection fraction ratio def: "The ratio of right ventricular ejection fraction to left ventricular ejection fraction." [] xref: PMID:35697867 is_a: EFO:0005527 ! ejection fraction measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-09-06T09:45:11Z xsd:dateTime property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0021821 name: right ventricular stroke volume to left ventricular stroke volume ratio def: "The ratio of right ventricular stroke volume to left ventricular stroke volume." [] xref: PMID:35697867 is_a: EFO:0004311 ! heart function measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-09-06T09:46:04Z xsd:dateTime property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0021822 name: right atrial maximum area measurement def: "Quantification of the maximum area of the right cardiac atrium." [] xref: PMID:35697867 is_a: EFO:0004298 ! cardiovascular measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-09-06T09:46:48Z xsd:dateTime property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0021823 name: right atrial minimum area measurement def: "Quantification of the minimum area of the right cardiac atrium." [] xref: PMID:35697867 is_a: EFO:0004298 ! cardiovascular measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-09-06T09:47:08Z xsd:dateTime property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0021824 name: right atrial fractional area change measurement def: "The ratio of the change in area between the maximum and minimum area divided by the maximum area of the right cardiac atrium." [] xref: PMID:35697867 is_a: EFO:0004298 ! cardiovascular measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-09-06T09:47:32Z xsd:dateTime property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0021825 name: pulmonary artery root diameter measurement def: "Quantification of the diameter of the pulmonary artery root (the apical-most segment to the right ventricle) as measured by MRI." [] xref: PMID:35697867 is_a: EFO:0004298 ! cardiovascular measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-09-06T09:47:52Z xsd:dateTime property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0021826 name: proximal pulmonary artery diameter measurement def: "Quantification of the diameter of the proximal pulmonary artery (the distal-most segment of the main pulmonary artery) as measured by MRI." [] xref: PMID:35697867 is_a: EFO:0004298 ! cardiovascular measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-09-06T09:48:11Z xsd:dateTime property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0021827 name: pulmonary artery strain measurement def: "Quantification of pulmonary artery strain (change in diameter between systolic and diastolic diameter divided by diastolic diameter of the pulmonary artery) as measured by MRI." [] xref: PMID:35697867 is_a: EFO:0004298 ! cardiovascular measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-09-06T09:48:29Z xsd:dateTime property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0021828 name: 1-aminocyclopropane-1-carboxylic acid meaaurement def: "Quantification of the amount of 1-aminocyclopropane-1-carboxylic acid in a sample." [] xref: PMID:35888748 is_a: EFO:0010468 ! carboxylic acid measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-09-14T10:29:52Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0021829 name: 1-methylnicotinamide measurement def: "Quantification of the amount of 1-methylnicotinamide in a sample." [] xref: PMID:35888748 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-09-14T10:30:55Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0021830 name: 3-methyl-2-oxindole measurement def: "Quantification of the amount of 3-methyl-2-oxindole in a sample." [] xref: PMID:35888748 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-09-14T10:31:43Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0021831 name: caprylic acid measurement def: "Quantification of the amount of caprylic acid in a sample." [] synonym: "octanoate measurement" EXACT [] xref: HMDB:HMDB0304443 xref: PMID:35888748 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-09-14T10:32:13Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0021832 name: L-Gulonic acid gamma-lactone measurement def: "Quantification of the amount of L-Gulonic acid gamma-lactone in a sample." [] xref: PMID:35888748 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-09-14T10:33:52Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0021833 name: hypotaurine measurement def: "Quantification of the amount of hypotaurine in a sample." [] xref: PMID:35888748 is_a: EFO:0005134 ! amino acid measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-09-14T10:34:24Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0021834 name: L-arabitol measurement def: "Quantification of the amount of L-arabitol in a sample." [] xref: PMID:35888748 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-09-14T10:34:58Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0021835 name: melanin measurement def: "Quantification of the amount of melanin in a sample." [] xref: PMID:35888748 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-09-14T10:35:20Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0021836 name: N-acetyl-d-tryptophan measurement def: "Quantification of the amount of N-acetyl-d-tryptophan in a sample." [] xref: PMID:35888748 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-09-14T10:35:38Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0021837 name: pyridoxamine measurement def: "Quantification of the amount of pyridoxamine in a sample." [] xref: PMID:35888748 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-09-14T10:35:56Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0021838 name: sorbate measurement def: "Quantification of the amount of sorbate in a sample." [] xref: PMID:35888748 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-09-14T10:36:26Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0021839 name: cinnamaldehyde measurement def: "Quantification of the amount of cinnamaldehyde in a sample." [] xref: PMID:35888748 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-09-14T10:37:41Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0021840 name: glycerol-1-myristate measurement def: "Quantification of the amount of glycerol-1-myristate in a sample." [] xref: PMID:35888748 is_a: EFO:0010115 ! glycerol measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-09-14T10:38:09Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0021841 name: mucin-1 measurement def: "The determination of the amount of mucin-1 in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021842 name: interleukin-1 receptor type 2 measurement def: "The determination of the amount of interleukin-1 receptor type 2 in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021843 name: vitronectin measurement def: "The determination of the amount of vitronectin in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021844 name: platelet-derived growth factor receptor alpha measurement def: "The determination of the amount of platelet-derived growth factor receptor alpha in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021845 name: gamma-enolase measurement def: "The determination of the amount of gamma-enolase in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021846 name: trefoil factor 2 measurement def: "The determination of the amount of trefoil factor 2 in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021847 name: pigment epithelium-derived factor measurement def: "The determination of the amount of pigment epithelium-derived factor in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021848 name: C-C motif chemokine 4-like measurement def: "The determination of the amount of C-C motif chemokine 4-like in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021849 name: protein Z-dependent protease inhibitor measurement def: "The determination of the amount of protein Z-dependent protease inhibitor in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021850 name: interferon alpha/beta receptor 1 measurement def: "The determination of the amount of interferon alpha/beta receptor 1 in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021851 name: interleukin-36 alpha measurement def: "The determination of the amount of interleukin-36 alpha in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021852 name: secreted and transmembrane protein 1 measurement def: "The determination of the amount of secreted and transmembrane protein 1 in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021853 name: galactoside 3(4)-L-fucosyltransferase measurement def: "The determination of the amount of galactoside 3(4)-L-fucosyltransferase in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021854 name: apolipoprotein L1 measurement def: "The determination of the amount of apolipoprotein L1 in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021855 name: fatty acid-binding protein, liver measurement def: "The determination of the amount of fatty acid-binding protein, liver in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021856 name: prolyl endopeptidase FAP measurement def: "The determination of the amount of prolyl endopeptidase FAP in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021857 name: protein FAM3B measurement def: "The determination of the amount of protein FAM3B in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021858 name: synaptosomal-associated protein 25 measurement def: "The determination of the amount of synaptosomal-associated protein 25 in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021859 name: phosphoglucomutase-1 measurement def: "The determination of the amount of phosphoglucomutase-1 in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021860 name: leucine-rich repeat transmembrane protein FLRT2 measurement def: "The determination of the amount of leucine-rich repeat transmembrane protein FLRT2 in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021861 name: leucine-rich repeat transmembrane protein FLRT3 measurement def: "The determination of the amount of leucine-rich repeat transmembrane protein FLRT3 in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021862 name: 3-hydroxyanthranilate 3,4-dioxygenase measurement def: "The determination of the amount of 3-hydroxyanthranilate 3,4-dioxygenase in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021863 name: galectin-9 measurement def: "The determination of the amount of galectin-9 in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021864 name: semaphorin-5A measurement def: "The determination of the amount of semaphorin-5A in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021865 name: trefoil factor 1 measurement def: "The determination of the amount of trefoil factor 1 in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021866 name: cD177 antigen measurement def: "The determination of the amount of cD177 antigen in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021867 name: plexin-B2 measurement def: "The determination of the amount of plexin-B2 in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021868 name: sPARC-related modular calcium-binding protein 1 measurement def: "The determination of the amount of sPARC-related modular calcium-binding protein 1 in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021869 name: protein FAM3D measurement def: "The determination of the amount of protein FAM3D in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021870 name: cysteine-rich with EGF-like domain protein 1 measurement def: "The determination of the amount of cysteine-rich with EGF-like domain protein 1 in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021871 name: glypican-6 measurement def: "The determination of the amount of glypican-6 in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021872 name: non-histone chromosomal protein HMG-14 measurement def: "The determination of the amount of non-histone chromosomal protein HMG-14 in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021873 name: low-density lipoprotein receptor-related protein 1B measurement def: "The determination of the amount of low-density lipoprotein receptor-related protein 1B in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021874 name: ankyrin-2 measurement def: "The determination of the amount of ankyrin-2 in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021875 name: ubiquitin-like protein ISG15 measurement def: "The determination of the amount of ubiquitin-like protein ISG15 in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021876 name: leucine-rich repeat serine/threonine-protein kinase 2 measurement def: "The determination of the amount of leucine-rich repeat serine/threonine-protein kinase 2 in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021877 name: platelet receptor Gi24 measurement def: "The determination of the amount of platelet receptor Gi24 in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021878 name: r-spondin-3 measurement def: "The determination of the amount of r-spondin-3 in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021879 name: immunoglobulin superfamily containing leucine-rich repeat protein 2 measurement def: "The determination of the amount of immunoglobulin superfamily containing leucine-rich repeat protein 2 in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021880 name: quinone oxidoreductase-like protein 1 measurement def: "The determination of the amount of quinone oxidoreductase-like protein 1 in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021881 name: ubiquitin carboxyl-terminal hydrolase 25 measurement def: "The determination of the amount of ubiquitin carboxyl-terminal hydrolase 25 in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021882 name: natural killer cell receptor 2B4 measurement def: "The determination of the amount of natural killer cell receptor 2B4 in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021883 name: betacellulin measurement def: "The determination of the amount of betacellulin in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021884 name: transgelin-2 measurement def: "The determination of the amount of transgelin-2 in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021885 name: semaphorin-6B measurement def: "The determination of the amount of semaphorin-6B in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021886 name: e3 ubiquitin-protein ligase RNF43 measurement def: "The determination of the amount of e3 ubiquitin-protein ligase RNF43 in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021887 name: glial cell line-derived neurotrophic factor measurement def: "The determination of the amount of glial cell line-derived neurotrophic factor in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021888 name: glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic measurement def: "The determination of the amount of glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021889 name: lumican measurement def: "The determination of the amount of lumican in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021890 name: interleukin-10 receptor subunit alpha measurement def: "The determination of the amount of interleukin-10 receptor subunit alpha in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021891 name: hemK methyltransferase family member 2 measurement def: "The determination of the amount of hemK methyltransferase family member 2 in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021892 name: adhesion G protein-coupled receptor E2 measurement def: "The determination of the amount of adhesion G protein-coupled receptor E2 in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021893 name: protein S100-A4 measurement def: "The determination of the amount of protein S100-A4 in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021894 name: lipopolysaccharide-binding protein measurement def: "The determination of the amount of lipopolysaccharide-binding protein in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021895 name: formimidoyltransferase-cyclodeaminase measurement def: "The determination of the amount of formimidoyltransferase-cyclodeaminase in a sample" [] xref: PMID:34814699 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0021896 name: response to rosuvastatin def: "Any process that results in a change in the state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a rosuvastatin stimulus. Rosuvastatin is a statin used as a cholesterol-lowering and anti-cardiovascular disease drug." [] xref: PMID:35942816 is_a: GO:0036273 ! response to statin relationship: OBI:0000293 CHEBI:38545 ! has_input rosuvastatin property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2022-09-30T09:24:07Z xsd:dateTime [Term] id: EFO:0021897 name: apolipoprotein B to apolipoprotein A1 ratio def: "Quantification of apolipoprotein B to apolipoprotein A1 ratio." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. xref: NCIT:C103356 is_a: EFO:0004615 ! apolipoprotein B measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021898 name: cholesterol in chylomicrons and extremely large VLDL measurement def: "Quantification of cholesterol in chylomicrons and extremely large VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004574 ! total cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021899 name: cholesterol in IDL measurement def: "Quantification of cholesterol in IDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004574 ! total cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021900 name: cholesterol in large HDL measurement def: "Quantification of cholesterol in large HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004574 ! total cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021901 name: cholesterol in large LDL measurement def: "Quantification of cholesterol in large LDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004574 ! total cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021902 name: cholesterol in large VLDL measurement def: "Quantification of cholesterol in large VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004574 ! total cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021903 name: cholesterol in medium HDL measurement def: "Quantification of cholesterol in medium HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004574 ! total cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021904 name: E3 ubiquitin-protein ligase CHIP measurement def: "Quantification of the amount of E3 ubiquitin-protein ligase CHIP measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021905 name: CCAAT/enhancer-binding protein beta measurement def: "Quantification of the amount of CCAAT/enhancer-binding protein beta measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021906 name: E3 SUMO-protein ligase PIAS4 measurement def: "Quantification of the amount of E3 SUMO-protein ligase PIAS4 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021907 name: signal transducer and activator of transcription 3 measurement def: "Quantification of the amount of signal transducer and activator of transcription 3 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021908 name: interferon regulatory factor 1 measurement def: "Quantification of the amount of interferon regulatory factor 1 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021909 name: transcription factor AP-1 measurement def: "Quantification of the amount of transcription factor AP-1 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021910 name: induced myeloid leukemia cell differentiation protein Mcl-1 measurement def: "Quantification of the amount of induced myeloid leukemia cell differentiation protein Mcl-1 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021911 name: 2'-5'-oligoadenylate synthase 1 measurement def: "Quantification of the amount of 2'-5'-oligoadenylate synthase 1 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021912 name: myc proto-oncogene protein measurement def: "Quantification of the amount of myc proto-oncogene protein measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021913 name: mothers against decapentaplegic homolog 3 measurement def: "Quantification of the amount of mothers against decapentaplegic homolog 3 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021914 name: mothers against decapentaplegic homolog 2 measurement def: "Quantification of the amount of mothers against decapentaplegic homolog 2 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021915 name: signal transducer and activator of transcription 1-alpha/beta measurement def: "Quantification of the amount of signal transducer and activator of transcription 1-alpha/beta measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021916 name: signal transducer and activator of transcription 6 measurement def: "Quantification of the amount of signal transducer and activator of transcription 6 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021917 name: glycerol-3-phosphate dehydrogenase [NAD(+)]; cytoplasmic measurement def: "Quantification of the amount of glycerol-3-phosphate dehydrogenase [NAD(+)]; cytoplasmic measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021918 name: galectin-10 measurement def: "Quantification of the amount of galectin-10 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021919 name: pyridoxal kinase measurement def: "Quantification of the amount of pyridoxal kinase measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021920 name: toll-like receptor 4 measurement def: "Quantification of the amount of toll-like receptor 4 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021921 name: regenerating islet-derived protein 4 measurement def: "Quantification of the amount of regenerating islet-derived protein 4 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021922 name: alpha-enolase measurement def: "Quantification of the amount of alpha-enolase measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021923 name: ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 measurement def: "Quantification of the amount of ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021924 name: CD59 glycoprotein measurement def: "Quantification of the amount of CD59 glycoprotein measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021925 name: fatty acid-binding protein; liver measurement def: "Quantification of the amount of fatty acid-binding protein; liver measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021926 name: hypoxia-inducible factor 1-alpha measurement def: "Quantification of the amount of hypoxia-inducible factor 1-alpha measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021927 name: protein S100-A6 measurement def: "Quantification of the amount of protein S100-A6 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021928 name: bcl-2-like protein 2 measurement def: "Quantification of the amount of bcl-2-like protein 2 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021929 name: chorionic somatomammotropin hormone measurement def: "Quantification of the amount of chorionic somatomammotropin hormone measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021930 name: ephrin-B1 measurement def: "Quantification of the amount of ephrin-B1 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021931 name: Ly6/PLAUR domain-containing protein 3 measurement def: "Quantification of the amount of Ly6/PLAUR domain-containing protein 3 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021932 name: neuronal growth regulator 1 measurement def: "Quantification of the amount of neuronal growth regulator 1 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021933 name: B-cell lymphoma 6 protein measurement def: "Quantification of the amount of B-cell lymphoma 6 protein measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021934 name: follistatin-related protein 1 measurement def: "Quantification of the amount of follistatin-related protein 1 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021935 name: choline/ethanolamine kinase measurement def: "Quantification of the amount of choline/ethanolamine kinase measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021936 name: desmocollin-2 measurement def: "Quantification of the amount of desmocollin-2 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021937 name: low-density lipoprotein receptor measurement def: "Quantification of the amount of low-density lipoprotein receptor measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021938 name: hexokinase-2 measurement def: "Quantification of the amount of hexokinase-2 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021939 name: hexokinase-1 measurement def: "Quantification of the amount of hexokinase-1 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021940 name: latent-transforming growth factor beta-binding protein 4 measurement def: "Quantification of the amount of latent-transforming growth factor beta-binding protein 4 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021941 name: PILR alpha-associated neural protein measurement def: "Quantification of the amount of PILR alpha-associated neural protein measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021942 name: tumor necrosis factor receptor superfamily member 10D measurement def: "Quantification of the amount of tumor necrosis factor receptor superfamily member 10D measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021943 name: E3 ubiquitin-protein ligase ZNRF3 measurement def: "Quantification of the amount of E3 ubiquitin-protein ligase ZNRF3 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021944 name: ephrin-A2 measurement def: "Quantification of the amount of ephrin-A2 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021945 name: apolipoprotein M measurement def: "Quantification of the amount of apolipoprotein M measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021946 name: interferon alpha-10 measurement def: "Quantification of the amount of interferon alpha-10 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021947 name: interferon alpha-7 measurement def: "Quantification of the amount of interferon alpha-7 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021948 name: HERV-H LTR-associating protein 2 measurement def: "Quantification of the amount of HERV-H LTR-associating protein 2 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021949 name: amphoterin-induced protein 2 measurement def: "Quantification of the amount of amphoterin-induced protein 2 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021950 name: relaxin receptor 1 measurement def: "Quantification of the amount of relaxin receptor 1 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021951 name: neuregulin-4 measurement def: "Quantification of the amount of neuregulin-4 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021952 name: histone H2B type 2-E measurement def: "Quantification of the amount of histone H2B type 2-E measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021953 name: histone H2A type 3 measurement def: "Quantification of the amount of histone H2A type 3 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021954 name: histone H3.1 measurement def: "Quantification of the amount of histone H3.1 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021955 name: interleukin-36 beta measurement def: "Quantification of the amount of interleukin-36 beta measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021956 name: ephrin-A3 measurement def: "Quantification of the amount of ephrin-A3 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021957 name: 14-3-3 protein beta/alpha measurement def: "Quantification of the amount of 14-3-3 protein beta/alpha measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021958 name: 14-3-3 protein epsilon measurement def: "Quantification of the amount of 14-3-3 protein epsilon measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021959 name: annexin A5 measurement def: "Quantification of the amount of annexin A5 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021960 name: growth/differentiation factor 8 measurement def: "Quantification of the amount of growth/differentiation factor 8 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021961 name: C-C motif chemokine 2 measurement def: "Quantification of the amount of C-C motif chemokine 2 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021962 name: growth/differentiation factor 11/8 measurement def: "Quantification of the amount of growth/differentiation factor 11/8 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021963 name: interleukin-17F measurement def: "Quantification of the amount of interleukin-17F measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021964 name: neutrophil gelatinase-associated lipocalin measurement def: "Quantification of the amount of neutrophil gelatinase-associated lipocalin measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021965 name: serine/threonine-protein kinase Chk1 measurement def: "Quantification of the amount of serine/threonine-protein kinase Chk1 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021966 name: histone H1.2 measurement def: "Quantification of the amount of histone H1.2 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021967 name: inducible T-cell costimulator measurement def: "Quantification of the amount of inducible T-cell costimulator measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021968 name: a disintegrin and metalloproteinase with thrombospondin motifs 1 measurement def: "Quantification of the amount of a disintegrin and metalloproteinase with thrombospondin motifs 1 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021969 name: low affinity immunoglobulin gamma Fc region receptor II-a measurement def: "Quantification of the amount of low affinity immunoglobulin gamma Fc region receptor II-a measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021970 name: low affinity immunoglobulin gamma Fc region receptor II-b measurement def: "Quantification of the amount of low affinity immunoglobulin gamma Fc region receptor II-b measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021971 name: PIK3CA/PIK3R1 measurement def: "Quantification of the amount of PIK3CA/PIK3R1 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021972 name: RAC-alpha/beta/gamma serine/threonine-protein kinase measurement def: "Quantification of the amount of RAC-alpha/beta/gamma serine/threonine-protein kinase measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021973 name: interleukin-17B measurement def: "Quantification of the amount of interleukin-17B measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021974 name: SLIT and NTRK-like protein 1 measurement def: "Quantification of the amount of SLIT and NTRK-like protein 1 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021975 name: heat shock 70 kDa protein 1A measurement def: "Quantification of the amount of heat shock 70 kDa protein 1A measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021976 name: interleukin-17D measurement def: "Quantification of the amount of interleukin-17D measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021977 name: alcohol dehydrogenase [NADP(+)] measurement def: "Quantification of the amount of alcohol dehydrogenase [NADP(+)] measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021978 name: protein lin-7 homolog B measurement def: "Quantification of the amount of protein lin-7 homolog B measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021979 name: alpha-(1;3)-fucosyltransferase 5 measurement def: "Quantification of the amount of alpha-(1;3)-fucosyltransferase 5 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021980 name: adhesion G-protein coupled receptor G5 measurement def: "Quantification of the amount of adhesion G-protein coupled receptor G5 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021981 name: superoxide dismutase [Mn]; mitochondrial measurement def: "Quantification of the amount of superoxide dismutase [Mn]; mitochondrial measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021982 name: protein deglycase DJ-1 measurement def: "Quantification of the amount of protein deglycase DJ-1 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021983 name: CD83 antigen measurement def: "Quantification of the amount of CD83 antigen measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021984 name: [pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1; mitochondrial measurement def: "Quantification of the amount of [pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1; mitochondrial measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021985 name: dual 3';5'-cyclic-AMP and -GMP phosphodiesterase 11A measurement def: "Quantification of the amount of dual 3';5'-cyclic-AMP and -GMP phosphodiesterase 11A measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021986 name: calcium/calmodulin-dependent 3';5'-cyclic nucleotide phosphodiesterase 1A measurement def: "Quantification of the amount of calcium/calmodulin-dependent 3';5'-cyclic nucleotide phosphodiesterase 1A measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021987 name: ras-related C3 botulinum toxin substrate 3 measurement def: "Quantification of the amount of ras-related C3 botulinum toxin substrate 3 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021988 name: proto-oncogene vav measurement def: "Quantification of the amount of proto-oncogene vav measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021989 name: RAC-beta serine/threonine-protein kinase measurement def: "Quantification of the amount of RAC-beta serine/threonine-protein kinase measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021990 name: growth factor receptor-bound protein 2 measurement def: "Quantification of the amount of growth factor receptor-bound protein 2 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021991 name: heat shock protein HSP 90-beta measurement def: "Quantification of the amount of heat shock protein HSP 90-beta measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021992 name: serine/threonine-protein kinase WNK3 measurement def: "Quantification of the amount of serine/threonine-protein kinase WNK3 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021993 name: tumor necrosis factor receptor superfamily member 10B measurement def: "Quantification of the amount of tumor necrosis factor receptor superfamily member 10B measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021994 name: BH3-interacting domain death agonist measurement def: "Quantification of the amount of BH3-interacting domain death agonist measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021995 name: noggin measurement def: "Quantification of the amount of noggin measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021996 name: 14-3-3 protein zeta/delta measurement def: "Quantification of the amount of 14-3-3 protein zeta/delta measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021997 name: 3-hydroxyanthranilate 3;4-dioxygenase measurement def: "Quantification of the amount of 3-hydroxyanthranilate 3;4-dioxygenase measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021998 name: bcl2-associated agonist of cell death measurement def: "Quantification of the amount of bcl2-associated agonist of cell death measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0021999 name: eukaryotic translation initiation factor 4H measurement def: "Quantification of the amount of eukaryotic translation initiation factor 4H measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022000 name: gastrin-releasing peptide measurement def: "Quantification of the amount of gastrin-releasing peptide measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022001 name: peroxisomal targeting signal 1 receptor measurement def: "Quantification of the amount of peroxisomal targeting signal 1 receptor measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022002 name: protein S100-A7 measurement def: "Quantification of the amount of protein S100-A7 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022003 name: WNT1-inducible-signaling pathway protein 3 measurement def: "Quantification of the amount of WNT1-inducible-signaling pathway protein 3 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022004 name: thrombopoietin measurement def: "Quantification of the amount of thrombopoietin measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022005 name: dual specificity mitogen-activated protein kinase kinase 3 measurement def: "Quantification of the amount of dual specificity mitogen-activated protein kinase kinase 3 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022006 name: cellular tumor antigen p53 measurement def: "Quantification of the amount of cellular tumor antigen p53 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022007 name: polyUbiquitin K48-linked measurement def: "Quantification of the amount of polyUbiquitin K48-linked measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022008 name: polyUbiquitin K63-linked measurement def: "Quantification of the amount of polyUbiquitin K63-linked measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022009 name: netrin-1 measurement def: "Quantification of the amount of netrin-1 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022010 name: leukocyte surface antigen CD47 measurement def: "Quantification of the amount of leukocyte surface antigen CD47 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022011 name: 14-3-3 protein theta measurement def: "Quantification of the amount of 14-3-3 protein theta measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022012 name: vesicular integral-membrane protein VIP36 measurement def: "Quantification of the amount of vesicular integral-membrane protein VIP36 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022013 name: myosin-binding protein C; slow-type measurement def: "Quantification of the amount of myosin-binding protein C; slow-type measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022014 name: N-terminal pro-BNP measurement def: "Quantification of the amount of N-terminal pro-BNP measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022015 name: tropomyosin alpha-4 chain measurement def: "Quantification of the amount of tropomyosin alpha-4 chain measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022016 name: appetite-regulating hormone measurement def: "Quantification of the amount of appetite-regulating hormone measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022017 name: somatotropin measurement def: "Quantification of the amount of somatotropin measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022018 name: extracellular superoxide dismutase [Cu-Zn] measurement def: "Quantification of the amount of extracellular superoxide dismutase [Cu-Zn] measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022019 name: R-spondin-4 measurement def: "Quantification of the amount of R-spondin-4 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022020 name: ribonuclease H1 measurement def: "Quantification of the amount of ribonuclease H1 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022021 name: chromogranin-A measurement def: "Quantification of the amount of chromogranin-A measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022022 name: EGF-containing fibulin-like extracellular matrix protein 1 measurement def: "Quantification of the amount of EGF-containing fibulin-like extracellular matrix protein 1 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022023 name: kelch-like ECH-associated protein 1 measurement def: "Quantification of the amount of kelch-like ECH-associated protein 1 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022024 name: C-C motif chemokine 26 measurement def: "Quantification of the amount of C-C motif chemokine 26 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022025 name: small ubiquitin-related modifier 3 measurement def: "Quantification of the amount of small ubiquitin-related modifier 3 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022026 name: interleukin-17A measurement def: "Quantification of the amount of interleukin-17A measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022027 name: cysteine and glycine-rich protein 3 measurement def: "Quantification of the amount of cysteine and glycine-rich protein 3 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022028 name: down syndrome cell adhesion molecule measurement def: "Quantification of the amount of down syndrome cell adhesion molecule measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022029 name: neuregulin-1 measurement def: "Quantification of the amount of neuregulin-1 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022030 name: interferon gamma receptor 2 measurement def: "Quantification of the amount of interferon gamma receptor 2 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022031 name: low-density lipoprotein receptor-related protein 1; soluble measurement def: "Quantification of the amount of low-density lipoprotein receptor-related protein 1; soluble measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022032 name: C-X-C motif chemokine 9 measurement def: "Quantification of the amount of C-X-C motif chemokine 9 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022033 name: CD63 antigen measurement def: "Quantification of the amount of CD63 antigen measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022034 name: galectin-7 measurement def: "Quantification of the amount of galectin-7 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022035 name: ubiquitin-conjugating enzyme E2 G2 measurement def: "Quantification of the amount of ubiquitin-conjugating enzyme E2 G2 measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022036 name: ATP synthase subunit O; mitochondrial measurement def: "Quantification of the amount of ATP synthase subunit O; mitochondrial measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022037 name: pro-opiomelanocortin measurement def: "Quantification of the amount of pro-opiomelanocortin measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022038 name: cathepsin F measurement def: "Quantification of the amount of cathepsin F measurement in a sample." [] xref: PMID:36168886 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022039 name: ultraviolet radiation def: "The invisible ultraviolet spectrum makes up one specific portion of sunlight. This unique portion accounts for three percent of all solar radiation reaching the earth. UV radiation causes many health problems" [] xref: NCIT:C17231 is_a: EFO:0020980 ! radiation exposure property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2023-09-16T15:53:13Z xsd:dateTime [Term] id: EFO:0022040 name: response to voriconazole def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a voriconazole stimulus." [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-11-30T11:11:07Z xsd:dateTime [Term] id: EFO:0022041 name: response to tramadol def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tramadol stimulus." [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-11-30T11:12:46Z xsd:dateTime [Term] id: EFO:0022042 name: p phenotype def: "The P-null phenotype, also referred to as the p phenotype (previously Tj[a-]), is rare, and is defined by the lack of P, P1, and Pk on red blood cells." [PMID:34539318] synonym: "p-null phenotype" EXACT [] synonym: "Tj[a-]" EXACT [] is_a: EFO:0600058 ! blood group property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-11-30T11:13:58Z xsd:dateTime [Term] id: EFO:0022043 name: synthetic data def: "Data that are artificially created rather than being generated by actual events." [] {http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0003-0978-0309"} synonym: "artificial data" EXACT [] xref: NCIT:C176263 is_a: IAO:0000100 ! data set property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-12-06T10:20:39Z xsd:dateTime [Term] id: EFO:0022044 name: heat shock response def: "A constellation of responses that occur when an organism is exposed to excessive heat and other environmental stresses. Responses include synthesis of some proteins, repression of other proteins, and expression of new proteins" [] xref: NCIT:C17888 is_a: GO:0006950 ! response to stress property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2023-09-16T15:55:04Z xsd:dateTime [Term] id: EFO:0022045 name: sci-ATAC-seq3 def: "A single cell plate-based three-level combinatorial indexing assay that measures chromatin accessibility. The first two rounds of split-pool indexing are achieved by successive ligations to each end of the Tn5 transposase complex, and the third round remains through PCR. The protocol no longer requires cell sorting and has been optimized to maximize recovery of fragments per cell." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:33184180", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0003-4389-9821"} is_a: EFO:0010891 ! scATAC-seq property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2023-01-03T10:14:49Z xsd:dateTime [Term] id: EFO:0022046 name: sulcal opening distance def: "Sulcal opening was defined as the average distance between both banks of the pial surface." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36442731"} is_a: EFO:0004464 ! brain measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-01-03T10:50:31Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022047 name: sulcal depth def: "Sulcal depth was defined as the average geodesic distance from the convex hull of the brain to the bottom line of the sulcus medial surface." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36442731"} is_a: EFO:0004464 ! brain measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-01-03T10:51:15Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022048 name: eosinophil-derived neurotoxin measurement def: "The determination of the amount of the eosinophil-derived neurotoxin in a sample." [] xref: NCIt:C184644 is_a: EFO:0007937 ! blood protein measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-01-03T13:31:33Z xsd:dateTime [Term] id: EFO:0022049 name: traditional Korean medicine type def: "One of several constitutional types used to classify individuals in traditional Korean medicine." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36065883"} is_a: BFO:0000019 ! quality property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2023-01-03T14:25:32Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022050 name: pulmotonia constitution type def: "One of the constitution types used in Korean Eight Constitution Medicine. It is strong liver function but weaker lung function." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36065883"} is_a: EFO:0022049 ! traditional Korean medicine type property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-01-03T14:26:38Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022051 name: hepatonia constitution type def: "One of the constitution types used in Korean Eight Constitution Medicine. It is strong lung function but weaker liver function." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36065883"} is_a: EFO:0022049 ! traditional Korean medicine type property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-01-03T14:27:38Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022052 name: 2,4,5-trichlorophenol measurement def: "Quantification of the amount of 2,4,5-trichlorophenol in a sample." [] xref: PMID:36006120 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-01-04T08:44:26Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022053 name: 4,6-dinitro-o-cresol measurement def: "Quantification of the amount of 4,6-dinitro-o-cresol in a sample." [] xref: PMID:36006120 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-01-04T08:45:21Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022054 name: aldrin measurement def: "Quantification of the amount of aldrin in a sample." [] xref: PMID:36006120 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-01-04T08:45:51Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022055 name: azinphos methyl measurement def: "Quantification of the amount of azinphos methyl in a sample." [] xref: PMID:36006120 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-01-04T08:46:25Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022056 name: cadmium chloride measurement def: "Quantification of the amount of cadmium chloride in a sample." [] xref: PMID:36006120 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-01-04T08:46:53Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022057 name: chlorpyrifos measurement def: "Quantification of the amount of chlorpyrifos in a sample." [] xref: PMID:36006120 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-01-04T08:47:33Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022058 name: dibutyl phthalate measurement def: "Quantification of the amount of dibutyl phthalate in a sample." [] xref: PMID:36006120 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-01-04T08:48:04Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022059 name: diazinon measurement def: "Quantification of the amount of diazinon in a sample." [] xref: PMID:36006120 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-01-04T08:49:12Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022060 name: dicofol measurement def: "Quantification of the amount of dicofol in a sample." [] xref: PMID:36006120 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-01-04T08:49:41Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022061 name: dieldrin measurement def: "Quantification of the amount of dieldrin in a sample." [] xref: PMID:36006120 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-01-04T08:50:17Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022062 name: disulfoton measurement def: "Quantification of the amount of disulfoton in a sample." [] xref: PMID:36006120 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-01-04T08:50:52Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022063 name: endosulfan measurement def: "Quantification of the amount of endosulfan in a sample." [] xref: PMID:36006120 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-01-04T08:51:23Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022064 name: endrin measurement def: "Quantification of the amount of endrin in a sample." [] xref: PMID:36006120 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-01-04T08:51:44Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022065 name: ethion measurement def: "Quantification of the amount of ethion in a sample." [] xref: PMID:36006120 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-01-04T08:52:14Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022066 name: heptachlor measurement def: "Quantification of the amount of heptachlor in a sample." [] xref: PMID:36006120 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-01-04T08:52:36Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022067 name: heptachlor epoxide measurement def: "Quantification of the amount of heptachlor epoxide in a sample." [] xref: PMID:36006120 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-01-04T08:53:04Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022068 name: mercuric chloride measurement def: "Quantification of the amount of mercuric chloride in a sample." [] xref: PMID:36006120 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-01-04T08:53:24Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022069 name: methoxychlor measurement def: "Quantification of the amount of methoxychlor in a sample." [] xref: PMID:36006120 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-01-04T08:53:42Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022070 name: parathion measurement def: "Quantification of the amount of parathion in a sample." [] xref: PMID:36006120 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-01-04T08:54:04Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022071 name: pentachlorophenol measurement def: "Quantification of the amount of pentachlorophenol in a sample." [] xref: PMID:36006120 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-01-04T08:54:25Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022072 name: potassium chromate measurement def: "Quantification of the amount of potassium chromate in a sample." [] xref: PMID:36006120 is_a: EFO:0004725 ! metabolite measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-01-04T08:54:44Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022073 name: (S)-a-amino-omega-caprolactam (X-13737) measurement def: "Quantification of the amount of (S)-a-amino-omega-caprolactam (X-13737) in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022074 name: starvation def: "A sample in which individuals have been deprived of food." [] xref: FBcv:0009009 xref: OMIT:0014095 is_a: EFO:0000523 ! growth condition property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2023-09-16T15:56:09Z xsd:dateTime [Term] id: EFO:0022075 name: fluid shear stress def: "Fluid shear stress is the force acting on an object in a system where the fluid is moving across a solid surface." [] is_a: EFO:0000696 ! shear stressing property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2023-09-16T15:56:45Z xsd:dateTime [Term] id: EFO:0022076 name: 15-methylpalmitate measurement def: "Quantification of the amount of 15-methylpalmitate in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022077 name: 16-hydroxypalmitate measurement def: "Quantification of the amount of 16-hydroxypalmitate in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022078 name: 17-methylstearate measurement def: "Quantification of the amount of 17-methylstearate in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022079 name: 1-arachidoyl-2-arachidonoyl-GPC (20:0/20:4) measurement def: "Quantification of the amount of 1-arachidoyl-2-arachidonoyl-GPC (20:0/20:4) in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022080 name: 1-linoleoyl-2-docosahexaenoyl-GPC (18:2/22:6) measurement def: "Quantification of the amount of 1-linoleoyl-2-docosahexaenoyl-GPC (18:2/22:6) in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022081 name: 1-margaroyl-2-arachidonoyl-GPC (17:0/20:4) measurement def: "Quantification of the amount of 1-margaroyl-2-arachidonoyl-GPC (17:0/20:4) in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022082 name: 1-methylimidazoleacetate measurement def: "Quantification of the amount of 1-methylimidazoleacetate in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022083 name: 1-palmitoyl-2-eicosapentaenoyl-GPE (16:0/20:5) measurement def: "Quantification of the amount of 1-palmitoyl-2-eicosapentaenoyl-GPE (16:0/20:5) in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022084 name: 1-palmitoyl-2-palmitoleoyl-GPC (16:0/16:1) measurement def: "Quantification of the amount of 1-palmitoyl-2-palmitoleoyl-GPC (16:0/16:1) in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022085 name: 1-stearoyl-2-dihomo-linolenoyl-GPI (18:0/20:3n3 or 6) measurement def: "Quantification of the amount of 1-stearoyl-2-dihomo-linolenoyl-GPI (18:0/20:3n3 or 6) in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022086 name: 2-hydroxybutyrate/2-hydroxyisobutyrate measurement def: "Quantification of the amount of 2-hydroxybutyrate/2-hydroxyisobutyrate in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022087 name: 3-hydroxy-5-cholestenoic acid measurement def: "Quantification of the amount of 3-hydroxy-5-cholestenoic acid in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022088 name: 3-indoxyl sulfate measurement def: "Quantification of the amount of 3-indoxyl sulfate in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022089 name: 4-androsten-3alpha,17alpha-diol monosulfate (2) measurement def: "Quantification of the amount of 4-androsten-3alpha,17alpha-diol monosulfate (2) in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022090 name: 4-androsten-3alpha,17alpha-diol monosulfate (3) measurement def: "Quantification of the amount of 4-androsten-3alpha,17alpha-diol monosulfate (3) in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022091 name: Cis-4-decenoyl carnitine measurement def: "Quantification of the amount of Cis-4-decenoyl carnitine in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022092 name: Cyclo(pro-val) measurement def: "Quantification of the amount of Cyclo(pro-val) in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022093 name: mitochondrial dna depletion syndrome 8b (mngie type) def: "Mitochondrial DNA depletion syndrome-8B is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype (Shaibani et al., 2009)." [] synonym: "MTDPS8B" EXACT [] xref: OMIM:604712 xref: OMIM:612075 is_a: MONDO:0018158 ! mitochondrial DNA depletion syndrome property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2023-09-16T16:28:33Z xsd:dateTime [Term] id: EFO:0022094 name: Dopamine sulfate (2) measurement def: "Quantification of the amount of Dopamine sulfate (2) in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022095 name: Eicosanodioate measurement def: "Quantification of the amount of Eicosanodioate in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022096 name: Glutarate (pentanedioate) measurement def: "Quantification of the amount of Glutarate (pentanedioate) in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022097 name: Glycochenodeoxycholate sulfate measurement def: "Quantification of the amount of Glycochenodeoxycholate sulfate in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022098 name: Glycodeoxycholate sulfate measurement def: "Quantification of the amount of Glycodeoxycholate sulfate in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022099 name: Hydantoin-5-propionic acid measurement def: "Quantification of the amount of Hydantoin-5-propionic acid in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022100 name: Isoleucylleucine/leucylisoleucine measurement def: "Quantification of the amount of Isoleucylleucine/leucylisoleucine in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022101 name: N-acetylcarnosine measurement def: "Quantification of the amount of N-acetylcarnosine in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022102 name: O-methylcatechol sulfate measurement def: "Quantification of the amount of O-methylcatechol sulfate in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022103 name: Palmitoyl-arachidonoyl-glycerol (16:0/20:4) [2] measurement def: "Quantification of the amount of Palmitoyl-arachidonoyl-glycerol (16:0/20:4) [2] in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022104 name: Pregn steroid monosulfate measurement def: "Quantification of the amount of Pregn steroid monosulfate in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022105 name: Sphingomyelin (d18:1/14:0, d16:1/16:0) measurement def: "Quantification of the amount of Sphingomyelin (d18:1/14:0, d16:1/16:0) in a sample." [] xref: PMID:35050183 is_a: EFO:0010118 ! sphingomyelin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022106 name: Sphingomyelin (d18:1/15:0, d16:1/17:0) measurement def: "Quantification of the amount of Sphingomyelin (d18:1/15:0, d16:1/17:0) in a sample." [] xref: PMID:35050183 is_a: EFO:0010118 ! sphingomyelin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022107 name: Sphingomyelin (d18:1/17:0, d17:1/18:0, d19:1/16:0) measurement def: "Quantification of the amount of Sphingomyelin (d18:1/17:0, d17:1/18:0, d19:1/16:0) in a sample." [] xref: PMID:35050183 is_a: EFO:0010118 ! sphingomyelin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022108 name: Sphingomyelin (d18:1/18:1, d18:2/18:0) measurement def: "Quantification of the amount of Sphingomyelin (d18:1/18:1, d18:2/18:0) in a sample." [] xref: PMID:35050183 is_a: EFO:0010118 ! sphingomyelin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022109 name: Sphingomyelin (d18:1/20:0, d16:1/22:0) measurement def: "Quantification of the amount of Sphingomyelin (d18:1/20:0, d16:1/22:0) in a sample." [] xref: PMID:35050183 is_a: EFO:0010118 ! sphingomyelin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022110 name: Sphingomyelin (d18:1/20:1, d18:2/20:0) measurement def: "Quantification of the amount of Sphingomyelin (d18:1/20:1, d18:2/20:0) in a sample." [] xref: PMID:35050183 is_a: EFO:0010118 ! sphingomyelin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022111 name: Sphingomyelin (d18:1/21:0, d17:1/22:0, d16:1/23:0) measurement def: "Quantification of the amount of Sphingomyelin (d18:1/21:0, d17:1/22:0, d16:1/23:0) in a sample." [] xref: PMID:35050183 is_a: EFO:0010118 ! sphingomyelin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022112 name: Sphingomyelin (d18:1/22:1, d18:2/22:0, d16:1/24:1) measurement def: "Quantification of the amount of Sphingomyelin (d18:1/22:1, d18:2/22:0, d16:1/24:1) in a sample." [] xref: PMID:35050183 is_a: EFO:0010118 ! sphingomyelin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022113 name: Sphingomyelin (d18:1/24:1, d18:2/24:0) measurement def: "Quantification of the amount of Sphingomyelin (d18:1/24:1, d18:2/24:0) in a sample." [] xref: PMID:35050183 is_a: EFO:0010118 ! sphingomyelin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022114 name: Sphingomyelin (d18:2/14:0, d18:1/14:1) measurement def: "Quantification of the amount of Sphingomyelin (d18:2/14:0, d18:1/14:1) in a sample." [] xref: PMID:35050183 is_a: EFO:0010118 ! sphingomyelin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022115 name: Sphingomyelin (d18:2/16:0, d18:1/16:1) measurement def: "Quantification of the amount of Sphingomyelin (d18:2/16:0, d18:1/16:1) in a sample." [] xref: PMID:35050183 is_a: EFO:0010118 ! sphingomyelin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022116 name: Sphingomyelin (d18:2/23:0, d18:1/23:1, d17:1/24:1) measurement def: "Quantification of the amount of Sphingomyelin (d18:2/23:0, d18:1/23:1, d17:1/24:1) in a sample." [] xref: PMID:35050183 is_a: EFO:0010118 ! sphingomyelin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022117 name: Sphingomyelin (d18:2/24:1, d18:1/24:2) measurement def: "Quantification of the amount of Sphingomyelin (d18:2/24:1, d18:1/24:2) in a sample." [] xref: PMID:35050183 is_a: EFO:0010118 ! sphingomyelin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022118 name: Succinimide measurement def: "Quantification of the amount of Succinimide in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022119 name: X-14568 measurement def: "Quantification of the amount of X-14568 in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022120 name: X-21358 measurement def: "Quantification of the amount of X-21358 in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022121 name: X-21658 measurement def: "Quantification of the amount of X-21658 in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022122 name: X-22775 measurement def: "Quantification of the amount of X-22775 in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022123 name: X-23637 measurement def: "Quantification of the amount of X-23637 in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022124 name: X-23652 measurement def: "Quantification of the amount of X-23652 in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022125 name: X-23749 measurement def: "Quantification of the amount of X-23749 in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022126 name: X-23756 measurement def: "Quantification of the amount of X-23756 in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022127 name: X-23765 measurement def: "Quantification of the amount of X-23765 in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022128 name: X-24020 measurement def: "Quantification of the amount of X-24020 in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022129 name: X-24027 measurement def: "Quantification of the amount of X-24027 in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022130 name: X-24243 measurement def: "Quantification of the amount of X-24243 in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022131 name: X-24452 measurement def: "Quantification of the amount of X-24452 in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022132 name: X-24512 measurement def: "Quantification of the amount of X-24512 in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022133 name: X-24513 measurement def: "Quantification of the amount of X-24513 in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022134 name: X-24738 measurement def: "Quantification of the amount of X-24738 in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022135 name: X-24747 measurement def: "Quantification of the amount of X-24747 in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022136 name: X-24748 measurement def: "Quantification of the amount of X-24748 in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022137 name: X-24765 measurement def: "Quantification of the amount of X-24765 in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022138 name: X-24803 measurement def: "Quantification of the amount of X-24803 in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022139 name: X-24804 measurement def: "Quantification of the amount of X-24804 in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022140 name: X-24806 measurement def: "Quantification of the amount of X-24806 in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022141 name: X-24813 measurement def: "Quantification of the amount of X-24813 in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022142 name: X-24831 measurement def: "Quantification of the amount of X-24831 in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022143 name: X-24870 measurement def: "Quantification of the amount of X-24870 in a sample." [] xref: PMID:35050183 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022144 name: triglycerides in very small VLDL measurement def: "Quantification of triglycerides in very small VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0022145 name: triglycerides in small VLDL measurement def: "Quantification of triglycerides in small VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0022146 name: phospholipids in small VLDL measurement def: "Quantification of phospholipids in small VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0004639 ! phospholipid measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0022147 name: concentration of small VLDL particles def: "A lipoprotein concentration assay that measures the concentration of small very-low-density lipoprotein in a specimen." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0004529 ! lipid measurement [Term] id: EFO:0022148 name: total lipids in small VLDL def: "Quantification of total lipids in small VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0004529 ! lipid measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0022149 name: triglycerides in IDL measurement def: "Quantification of triglycerides in IDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0022150 name: phospholipids in very small VLDL measurement def: "Quantification of phospholipids in very small VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0004529 ! lipid measurement [Term] id: EFO:0022151 name: concentration of very small VLDL particles def: "A lipoprotein concentration assay that measures the concentration of very small very-low-density lipoprotein in a specimen." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0004732 ! lipoprotein measurement [Term] id: EFO:0022152 name: concentration of medium VLDL particles def: "A lipoprotein concentration assay that measures the concentration of very-low-density lipoprotein in a specimen." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0004732 ! lipoprotein measurement [Term] id: EFO:0022153 name: total lipids in medium VLDL def: "Quantification of total lipids in medium VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0004529 ! lipid measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0022154 name: phospholipids in medium VLDL measurement def: "Quantification of phospholipids in medium VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0004639 ! phospholipid measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0022155 name: triglycerides in medium VLDL measurement def: "Quantification of triglycerides in medium VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0022156 name: total lipids in very small VLDL measurement def: "Quantification of total lipids in very small VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0004529 ! lipid measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0022157 name: free cholesterol in large HDL measurement def: "Quantification of free cholesterol contained in or bound to HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0008591 ! free cholesterol measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0022158 name: triglycerides in small HDL measurement def: "Quantification of triglycerides in small HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0022159 name: cholesterol esters in large HDL measurement def: "Quantification of cholesterol esters contained in or bound to HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0008589 ! esterified cholesterol measurement [Term] id: EFO:0022160 name: concentration of large LDL particles measurement def: "A lipoprotein concentration assay that measures the concentration of large low-density lipoprotein in a specimen." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0004732 ! lipoprotein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0022161 name: total lipids in IDL def: "Quantification of total lipids in IDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0004529 ! lipid measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0022162 name: total cholesterol in medium VLDL def: "Quantification of total cholesterol in medium VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0008317 ! very low density lipoprotein cholesterol measurement [Term] id: EFO:0022163 name: total lipids in large LDL def: "Quantification of total lipids in large LDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0004529 ! lipid measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0022164 name: phospholipids in IDL measurement def: "Quantification of phospholipids in IDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0004639 ! phospholipid measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0022165 name: cholesterol esters in large LDL measurement def: "Quantification of cholesterol esters contained in or bound to large LDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0008589 ! esterified cholesterol measurement [Term] id: EFO:0022166 name: concentration of small LDL particles measurement def: "A lipoprotein concentration assay that measures the concentration of small low-density lipoprotein in a specimen." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0004732 ! lipoprotein measurement [Term] id: EFO:0022167 name: total cholesterol in large LDL def: "Quantification of total cholesterol in large LDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0004574 ! total cholesterol measurement [Term] id: EFO:0022168 name: total lipids in small LDL def: "Quantification of total lipids in small LDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0004529 ! lipid measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0022169 name: phospholipids in large VLDL measurement def: "Quantification of phospholipids in large VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0004639 ! phospholipid measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0022170 name: cholesterol esters in large VLDL measurement def: "Quantification of cholesterol esters contained in or bound to large VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0008317 ! very low density lipoprotein cholesterol measurement [Term] id: EFO:0022171 name: total cholesterol in small VLDL def: "Quantification of total cholesterol in small VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0008317 ! very low density lipoprotein cholesterol measurement [Term] id: EFO:0022172 name: concentration of medium LDL particles measurement def: "A lipoprotein concentration assay that measures the concentration of medium low-density lipoprotein in a specimen." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0004732 ! lipoprotein measurement [Term] id: EFO:0022173 name: concentration of large VLDL particles measurement def: "A lipoprotein concentration assay that measures the concentration of large very-low-density lipoprotein in a specimen." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0004732 ! lipoprotein measurement [Term] id: EFO:0022174 name: phospholipids in large LDL measurement def: "Quantification of phospholipids in large LDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0004639 ! phospholipid measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0022175 name: total lipids in large VLDL def: "Quantification of total lipids in large VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0004529 ! lipid measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0022176 name: free cholesterol in large LDL measurement def: "Quantification of free cholesterol contained in or bound to LDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0008591 ! free cholesterol measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0022177 name: total cholesterol in large VLDL def: "Quantification of total cholesterol in large VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0008317 ! very low density lipoprotein cholesterol measurement [Term] id: EFO:0022178 name: triglycerides in large VLDL measurement def: "Quantification of triglycerides in large VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0004530 ! triglyceride measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0022179 name: total cholesterol in small LDL def: "Quantification of total cholesterol in small LDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0004574 ! total cholesterol measurement [Term] id: EFO:0022180 name: total lipids in medium LDL def: "Quantification of total lipids in medium LDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0004529 ! lipid measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0022181 name: free cholesterol in IDL measurement def: "Quantification of free cholesterol contained in or bound to IDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0008591 ! free cholesterol measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0022182 name: cholesterol esters in medium VLDL measurement def: "Quantification of cholesterol esters contained in or bound to medium VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0008317 ! very low density lipoprotein cholesterol measurement [Term] id: EFO:0022183 name: phospholipids in medium LDL measurement def: "Quantification of phospholipids in medium LDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0004639 ! phospholipid measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0022184 name: total cholesterol in IDL def: "Quantification of total cholesterol in IDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0004574 ! total cholesterol measurement [Term] id: EFO:0022185 name: total cholesterol in medium LDL def: "Quantification of total cholesterol in medium LDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0004574 ! total cholesterol measurement [Term] id: EFO:0022186 name: cholesterol esters in medium LDL measurement def: "Quantification of cholesterol esters contained in or bound to medium LDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0008589 ! esterified cholesterol measurement [Term] id: EFO:0022187 name: monounsaturated fatty acids; 16:1, 18:1 measurement def: "The determination of the amount of polyunsaturated fatty acids present in a sample." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0005110 ! fatty acid measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0022188 name: concentration of large HDL particles measurement def: "A lipoprotein concentration assay that measures the concentration of large high-density lipoprotein in a specimen." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0004732 ! lipoprotein measurement [Term] id: EFO:0022189 name: total lipids in large HDL def: "Quantification of total lipids in large HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0004529 ! lipid measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0022190 name: phospholipids in large HDL measurement def: "Quantification of phospholipids in large HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32150548", http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-2417-7324"} is_a: EFO:0004639 ! phospholipid measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0022191 name: late-onset spinocerebellar ataxia 27b def: "Late-onset spinocerebellar ataxia-27B (SCA27B) is an autosomal dominant neurodegenerative disorder characterized by the onset of gait and appendicular ataxia in adulthood, usually around age 55 (range 30 to late eighties). About half of patients present with episodic features. The disorder is slowly progressive, and some patients may lose independent ambulation. Additional features include downbeat and horizontal nystagmus, diplopia, vertigo, and dysarthria. Brain imaging tends to show cerebellar atrophy (Pellerin et al., 2023)." [] synonym: "SCA27B" EXACT [] xref: OMIM:620174 is_a: MONDO:0012247 ! spinocerebellar ataxia type 27 property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2023-02-01T10:20:19Z xsd:dateTime [Term] id: EFO:0022192 name: ACTN3 deficiency def: "Any Mendelian disease in which the cause of the disease is a mutation in the fast fibre specific ACTN3 gene. This mutation results in reduced muscle strength and a shift towards a more efficient oxidative metabolism." [] synonym: "R577X deficiency" EXACT [] xref: OMIM:617749 is_a: EFO:0000508 ! genetic disorder property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2023-02-01T10:27:54Z xsd:dateTime [Term] id: EFO:0022193 name: accelerated tumor formation, susceptibility to def: "An inherited susceptibility or predisposition to developing accelerated tumor formation." [] synonym: "ACTFS" EXACT [] xref: OMIM:614401 is_a: MONDO:0020573 ! inherited disease susceptibility property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2023-02-01T10:34:37Z xsd:dateTime [Term] id: EFO:0022194 name: EGFR-related lung cancer def: "Lung cancer associated with a mutation in the EGFR gene. Patients with lung cancers with EGFR mutations tend to have minimal to no smoking history." [] synonym: "EGFR-positive lung cancer" EXACT [] synonym: "epidermal growth factor receptor related lung cancer" EXACT [] xref: MeSH:130014 is_a: EFO:0000571 ! lung adenocarcinoma property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2023-02-01T10:36:54Z xsd:dateTime [Term] id: EFO:0022195 name: chronic musculoskeletal pain def: "A chronic pain phenotype that originates in the bones, muscles, tendons or ligaments." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:32587327"} is_a: HP:0012532 ! Chronic pain property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-02-08T07:56:00Z xsd:dateTime [Term] id: EFO:0022196 name: body surface area def: "Quantification of the body's total surface area." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36502284"} xref: NCIT:C25157 xref: OMIT:0003188 is_a: EFO:0004302 ! anthropometric measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-02-13T10:01:32Z xsd:dateTime [Term] id: EFO:0022197 name: blood 3-hydroxymyristate measurement def: "The determination of the amount of 3-hydroxymyristate in a blood sample" [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36635386"} xref: CAS:3422-31-9 xref: PubChem:16064 is_a: EFO:0005664 ! blood metabolite measurement property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022198 name: blood citramalate measurement def: "The determination of the amount of citramalate in a blood sample" [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36635386"} xref: CAS:1583915 xref: KEGG COMPOUND:C00815 xref: PubChem:1081 is_a: EFO:0005664 ! blood metabolite measurement property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022199 name: blood 2,3-dihydroxypyridine measurement def: "The determination of the amount of 2,3-dihydroxypyridine in a blood sample" [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36635386"} xref: CAS:5466678 xref: PubChem:28115 is_a: EFO:0005664 ! blood metabolite measurement property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022200 name: blood glutaconic acid measurement def: "The determination of the amount of Glutaconic acid in a blood sample" [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36635386"} xref: KEGG COMPOUND:C02226 xref: PubChem:5280498 is_a: EFO:0005664 ! blood metabolite measurement property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022201 name: blood Citraconic acid measurement def: "The determination of the amount of Citraconic acid in a blood sample" [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36635386"} xref: KEGG COMPOUND:C02214 xref: PubChem:643798 is_a: EFO:0005664 ! blood metabolite measurement property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022202 name: blood N-acetyl-2-aminoadipate measurement def: "The determination of the amount of N-acetyl-2-aminoadipate in a blood sample" [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36635386"} xref: KEGG COMPOUND:C12986 xref: PubChem:443992 is_a: EFO:0005664 ! blood metabolite measurement property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022203 name: blood N-carbamoylalanine measurement def: "The determination of the amount of N-carbamoylalanine in a blood sample" [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36635386"} xref: CAS:77340-50-2 xref: PubChem:426409 is_a: EFO:0005664 ! blood metabolite measurement property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022204 name: blood N(1)-acetylspermidine measurement def: "The determination of the amount of N(1)-acetylspermidine in a blood sample" [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36635386"} xref: KEGG COMPOUND:C01029 xref: PubChem:496 is_a: EFO:0005664 ! blood metabolite measurement property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022205 name: blood N(8)-acetylspermidine measurement def: "The determination of the amount of N(8)-acetylspermidine in a blood sample" [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36635386"} xref: KEGG COMPOUND:C00612 xref: PubChem:123689 is_a: EFO:0005664 ! blood metabolite measurement property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022206 name: blood N-acetylasparagine measurement def: "The determination of the amount of N-acetylasparagine in a blood sample" [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36635386"} xref: CAS:4033-40-3 xref: PubChem:99715 is_a: EFO:0005664 ! blood metabolite measurement property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022207 name: blood N-acetylproline measurement def: "The determination of the amount of N-acetylproline in a blood sample" [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36635386"} xref: CAS:1074-79-9 xref: PubChem:322640 is_a: EFO:0005664 ! blood metabolite measurement property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022208 name: blood 2,2'-Methylenebis(6-tert-butyl-p-cresol) measurement def: "The determination of the amount of 2,2'-Methylenebis(6-tert-butyl-p-cresol) in a blood sample" [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36635386"} xref: CAS:119-47-1 xref: PubChem:8398 is_a: EFO:0005664 ! blood metabolite measurement property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022209 name: blood ethylparaben sulfate measurement def: "The determination of the amount of ethylparaben sulfate in a blood sample" [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36635386"} xref: CAS:162338-11-6 xref: PubChem:22908099 is_a: EFO:0005664 ! blood metabolite measurement property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022210 name: blood pantoate measurement def: "The determination of the amount of pantoate in a blood sample" [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36635386"} xref: CAS:470-29-1 xref: KEGG COMPOUND:C00522 xref: PubChem:5289105 is_a: EFO:0005664 ! blood metabolite measurement property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022211 name: blood succinimide measurement def: "The determination of the amount of succinimide in a blood sample" [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36635386"} xref: CAS:123-56-8 xref: KEGG COMPOUND:C07273 xref: PubChem:11439 is_a: EFO:0005664 ! blood metabolite measurement property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022212 name: blood dibutyl sulfosuccinate measurement def: "The determination of the amount of dibutyl sulfosuccinate in a blood sample" [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36635386"} xref: CAS:5144-51-4 xref: PubChem:423891 is_a: EFO:0005664 ! blood metabolite measurement property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022213 name: blood cytosine measurement def: "The determination of the amount of cytosine in a blood sample" [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36635386"} xref: CAS:71-30-7 xref: KEGG COMPOUND:C00380 xref: PubChem:597 is_a: EFO:0005664 ! blood metabolite measurement property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022214 name: blood vanillic alcohol sulfate measurement def: "The determination of the amount of vanillic alcohol sulfate in a blood sample" [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36635386"} xref: CAS:754920-02-0 is_a: EFO:0005664 ! blood metabolite measurement property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022215 name: blood 3,4-dihydroxybutyrate measurement def: "The determination of the amount of 3,4-dihydroxybutyrate in a blood sample" [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36635386"} xref: CAS:51267-44-8 xref: PubChem:150929 is_a: EFO:0005664 ! blood metabolite measurement property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022216 name: blood 4-oxo-retinoic acid measurement def: "The determination of the amount of 4-oxo-retinoic acid in a blood sample" [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36635386"} xref: CAS:38030-57-8 xref: PubChem:6437063 is_a: EFO:0005664 ! blood metabolite measurement property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022217 name: blood N-acetylcarnosine measurement def: "The determination of the amount of N-acetylcarnosine in a blood sample" [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36635386"} xref: CAS:56353-15-2 xref: PubChem:9903482 is_a: EFO:0005664 ! blood metabolite measurement property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022218 name: blood 1H-indole-7-acetic acid measurement def: "The determination of the amount of 1H-indole-7-acetic acid in a blood sample" [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36635386"} xref: CAS:39689-63-9 xref: PubChem:18356439 is_a: EFO:0005664 ! blood metabolite measurement property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022219 name: blood 2,3-dihydroxy-2-methylbutyrate measurement def: "The determination of the amount of 2,3-dihydroxy-2-methylbutyrate in a blood sample" [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36635386"} xref: CAS:14868-24-7 xref: PubChem:301941 is_a: EFO:0005664 ! blood metabolite measurement property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022220 name: blood 3-hydroxyoctanoylcarnitine def: "The determination of the amount of 3-hydroxyoctanoylcarnitine in a blood sample" [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36635386"} xref: PubChem:86583357 is_a: EFO:0005664 ! blood metabolite measurement property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022221 name: blood 2,4-di-tert-butylphenol measurement def: "The determination of the amount of 2,4-di-tert-butylphenol in a blood sample" [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36635386"} xref: CAS:96-76-4 xref: PubChem:7311 is_a: EFO:0005664 ! blood metabolite measurement property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022222 name: blood pyridoxal measurement def: "The determination of the amount of pyridoxal in a blood sample" [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36635386"} xref: CAS:65-22-5 xref: KEGG COMPOUND:C00250 xref: PubChem:1050 is_a: EFO:0005664 ! blood metabolite measurement property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022223 name: metabolite ratio def: "Quantification of the ratio of one metabolite to another" [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36635386"} is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022224 name: cholesterol in medium LDL measurement def: "Quantification of cholesterol in medium LDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004574 ! total cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022225 name: cholesterol in medium VLDL measurement def: "Quantification of cholesterol in medium VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004574 ! total cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022226 name: cholesterol in small HDL measurement def: "Quantification of cholesterol in small HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004574 ! total cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022227 name: cholesterol in small LDL measurement def: "Quantification of cholesterol in small LDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004574 ! total cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022228 name: cholesterol in small VLDL measurement def: "Quantification of cholesterol in small VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004574 ! total cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022229 name: cholesterol in very large HDL measurement def: "Quantification of cholesterol in very large HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004574 ! total cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022230 name: cholesterol in very large VLDL measurement def: "Quantification of cholesterol in very large VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004574 ! total cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022231 name: cholesterol in very small VLDL measurement def: "Quantification of cholesterol in very small VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004574 ! total cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022232 name: cholesterol to total lipids in chylomicrons and extremely large VLDL percentage def: "Quantification of cholesterol to total lipids in chylomicrons and extremely large VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004574 ! total cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022233 name: cholesterol to total lipids in IDL percentage def: "Quantification of cholesterol to total lipids in IDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004574 ! total cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022234 name: cholesterol to total lipids in large HDL percentage def: "Quantification of cholesterol to total lipids in large HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004574 ! total cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022235 name: cholesterol to total lipids in large LDL percentage def: "Quantification of cholesterol to total lipids in large LDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004574 ! total cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022236 name: cholesterol to total lipids in large VLDL percentage def: "Quantification of cholesterol to total lipids in large VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004574 ! total cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022237 name: cholesterol to total lipids in medium HDL percentage def: "Quantification of cholesterol to total lipids in medium HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004574 ! total cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022238 name: cholesterol to total lipids in medium LDL percentage def: "Quantification of cholesterol to total lipids in medium LDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004574 ! total cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022239 name: cholesterol to total lipids in medium VLDL percentage def: "Quantification of cholesterol to total lipids in medium VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004574 ! total cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022240 name: cholesterol to total lipids in small HDL percentage def: "Quantification of cholesterol to total lipids in small HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004574 ! total cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022241 name: cholesterol to total lipids in small LDL percentage def: "Quantification of cholesterol to total lipids in small LDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004574 ! total cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022242 name: cholesterol to total lipids in small VLDL percentage def: "Quantification of cholesterol to total lipids in small VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004574 ! total cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022243 name: cholesterol to total lipids in very large HDL percentage def: "Quantification of cholesterol to total lipids in very large HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004574 ! total cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022244 name: cholesterol to total lipids in very large VLDL percentage def: "Quantification of cholesterol to total lipids in very large VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004574 ! total cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022245 name: cholesterol to total lipids in very small VLDL percentage def: "Quantification of cholesterol to total lipids in very small VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004574 ! total cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022246 name: cholesteryl esters to total lipids in chylomicrons and extremely large VLDL percentage def: "Quantification of cholesteryl esters to total lipids in chylomicrons and extremely large VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0010351 ! cholesteryl ester measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022247 name: cholesteryl esters to total lipids in IDL percentage def: "Quantification of cholesteryl esters to total lipids in IDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0010351 ! cholesteryl ester measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022248 name: cholesteryl esters to total lipids in large HDL percentage def: "Quantification of cholesteryl esters to total lipids in large HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0010351 ! cholesteryl ester measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022249 name: cholesteryl esters to total lipids in large LDL percentage def: "Quantification of cholesteryl esters to total lipids in large LDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0010351 ! cholesteryl ester measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022250 name: cholesteryl esters to total lipids in large VLDL percentage def: "Quantification of cholesteryl esters to total lipids in large VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0010351 ! cholesteryl ester measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022251 name: cholesteryl esters to total lipids in medium HDL percentage def: "Quantification of cholesteryl esters to total lipids in medium HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0010351 ! cholesteryl ester measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022252 name: cholesteryl esters to total lipids in medium LDL percentage def: "Quantification of cholesteryl esters to total lipids in medium LDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0010351 ! cholesteryl ester measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022253 name: cholesteryl esters to total lipids in medium VLDL percentage def: "Quantification of cholesteryl esters to total lipids in medium VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0010351 ! cholesteryl ester measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022254 name: cholesteryl esters to total lipids in small HDL percentage def: "Quantification of cholesteryl esters to total lipids in small HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0010351 ! cholesteryl ester measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022255 name: cholesteryl esters to total lipids in small LDL percentage def: "Quantification of cholesteryl esters to total lipids in small LDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0010351 ! cholesteryl ester measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022256 name: cholesteryl esters to total lipids in small VLDL percentage def: "Quantification of cholesteryl esters to total lipids in small VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0010351 ! cholesteryl ester measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022257 name: cholesteryl esters to total lipids in very large HDL percentage def: "Quantification of cholesteryl esters to total lipids in very large HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0010351 ! cholesteryl ester measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022258 name: cholesteryl esters to total lipids in very large VLDL percentage def: "Quantification of cholesteryl esters to total lipids in very large VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0010351 ! cholesteryl ester measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022259 name: cholesteryl esters to total lipids in very small VLDL percentage def: "Quantification of cholesteryl esters to total lipids in very small VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0010351 ! cholesteryl ester measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022260 name: concentration of chylomicrons and extremely large VLDL particles measurement def: "Quantification of concentration of chylomicrons and extremely large VLDL particles." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004732 ! lipoprotein measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022261 name: degree of unsaturation measurement def: "Quantification of degree of unsaturation." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0005110 ! fatty acid measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022262 name: docosahexaenoic acid to total fatty acids percentage def: "Quantification of docosahexaenoic acid to total fatty acids." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0005110 ! fatty acid measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022263 name: free cholesterol in chylomicrons and extremely large VLDL measurement def: "Quantification of free cholesterol in chylomicrons and extremely large VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0008591 ! free cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022264 name: free cholesterol in HDL measurement def: "Quantification of free cholesterol in HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0008591 ! free cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022265 name: free cholesterol in large VLDL measurement def: "Quantification of free cholesterol in large VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0008591 ! free cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022266 name: free cholesterol in LDL measurement def: "Quantification of free cholesterol in LDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0008591 ! free cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022267 name: free cholesterol in medium HDL measurement def: "Quantification of free cholesterol in medium HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0008591 ! free cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022268 name: free cholesterol in medium LDL measurement def: "Quantification of free cholesterol in medium LDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0008591 ! free cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022269 name: free cholesterol in medium VLDL measurement def: "Quantification of free cholesterol in medium VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0008591 ! free cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022270 name: free cholesterol in small HDL measurement def: "Quantification of free cholesterol in small HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0008591 ! free cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022271 name: free cholesterol in small LDL measurement def: "Quantification of free cholesterol in small LDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0008591 ! free cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022272 name: free cholesterol in small VLDL measurement def: "Quantification of free cholesterol in small VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0008591 ! free cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022273 name: free cholesterol in very large HDL measurement def: "Quantification of free cholesterol in very large HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0008591 ! free cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022274 name: free cholesterol in very large VLDL measurement def: "Quantification of free cholesterol in very large VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0008591 ! free cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022275 name: free cholesterol in very small VLDL measurement def: "Quantification of free cholesterol in very small VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0008591 ! free cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022276 name: free cholesterol in VLDL measurement def: "Quantification of free cholesterol in VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0008591 ! free cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022277 name: free cholesterol to total lipids in chylomicrons and extremely large VLDL percentage def: "Quantification of free cholesterol to total lipids in chylomicrons and extremely large VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0008591 ! free cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022278 name: free cholesterol to total lipids in IDL percentage def: "Quantification of free cholesterol to total lipids in IDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0008591 ! free cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022279 name: free cholesterol to total lipids in large HDL percentage def: "Quantification of free cholesterol to total lipids in large HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0008591 ! free cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022280 name: free cholesterol to total lipids in large LDL percentage def: "Quantification of free cholesterol to total lipids in large LDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0008591 ! free cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022281 name: free cholesterol to total lipids in large VLDL percentage def: "Quantification of free cholesterol to total lipids in large VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0008591 ! free cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022282 name: free cholesterol to total lipids in medium HDL percentage def: "Quantification of free cholesterol to total lipids in medium HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0008591 ! free cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022283 name: free cholesterol to total lipids in medium LDL percentage def: "Quantification of free cholesterol to total lipids in medium LDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0008591 ! free cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022284 name: free cholesterol to total lipids in medium VLDL percentage def: "Quantification of free cholesterol to total lipids in medium VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0008591 ! free cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022285 name: free cholesterol to total lipids in small HDL percentage def: "Quantification of free cholesterol to total lipids in small HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0008591 ! free cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022286 name: free cholesterol to total lipids in small LDL percentage def: "Quantification of free cholesterol to total lipids in small LDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0008591 ! free cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022287 name: free cholesterol to total lipids in small VLDL percentage def: "Quantification of free cholesterol to total lipids in small VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0008591 ! free cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022288 name: free cholesterol to total lipids in very large HDL percentage def: "Quantification of free cholesterol to total lipids in very large HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0008591 ! free cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022289 name: free cholesterol to total lipids in very large VLDL percentage def: "Quantification of free cholesterol to total lipids in very large VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0008591 ! free cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022290 name: free cholesterol to total lipids in very small VLDL percentage def: "Quantification of free cholesterol to total lipids in very small VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0008591 ! free cholesterol measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022291 name: phosphoglycerides measurement def: "Quantification of phosphoglycerides." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004529 ! lipid measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022292 name: phospholipids in chylomicrons and extremely large VLDL measurement def: "Quantification of phospholipids in chylomicrons and extremely large VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004639 ! phospholipid measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022293 name: phospholipids in HDL measurement def: "Quantification of phospholipids in HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004639 ! phospholipid measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022294 name: phospholipids in LDL measurement def: "Quantification of phospholipids in LDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004639 ! phospholipid measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022295 name: phospholipids in medium HDL measurement def: "Quantification of phospholipids in medium HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004639 ! phospholipid measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022296 name: phospholipids in small HDL measurement def: "Quantification of phospholipids in small HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004639 ! phospholipid measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022297 name: phospholipids in small LDL measurement def: "Quantification of phospholipids in small LDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004639 ! phospholipid measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022298 name: phospholipids in very large HDL measurement def: "Quantification of phospholipids in very large HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004639 ! phospholipid measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022299 name: phospholipids in very large VLDL measurement def: "Quantification of phospholipids in very large VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004639 ! phospholipid measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022300 name: phospholipids in very small VLDL measurement def: "Quantification of phospholipids in very small VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004639 ! phospholipid measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022301 name: phospholipids in VLDL measurement def: "Quantification of phospholipids in VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004639 ! phospholipid measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022302 name: polyunsaturated fatty acids to monounsaturated fatty acids ratio def: "Quantification of polyunsaturated fatty acids to monounsaturated fatty acids ratio." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0010733 ! polyunsaturated fatty acid measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022303 name: polyunsaturated fatty acids to total fatty acids percentage def: "Quantification of polyunsaturated fatty acids to total fatty acids." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0010733 ! polyunsaturated fatty acid measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022304 name: saturated fatty acids measurement def: "Quantification of saturated fatty acids." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0005110 ! fatty acid measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022305 name: saturated fatty acids to total fatty acids percentage def: "Quantification of saturated fatty acids to total fatty acids." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0005110 ! fatty acid measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022306 name: total lipids in chylomicrons and extremely large VLDL measurement def: "Quantification of total lipids in chylomicrons and extremely large VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004529 ! lipid measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022307 name: total lipids in HDL measurement def: "Quantification of total lipids in HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004529 ! lipid measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022308 name: total lipids in LDL measurement def: "Quantification of total lipids in LDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004529 ! lipid measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022309 name: total lipids in lipoprotein particles measurement def: "Quantification of total lipids in lipoprotein particles." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004529 ! lipid measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022310 name: total lipids in medium HDL measurement def: "Quantification of total lipids in medium HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004529 ! lipid measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022311 name: total lipids in small HDL measurement def: "Quantification of total lipids in small HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004529 ! lipid measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022312 name: total lipids in very large HDL measurement def: "Quantification of total lipids in very large HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004529 ! lipid measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022313 name: total lipids in very large VLDL measurement def: "Quantification of total lipids in very large VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004529 ! lipid measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022314 name: total lipids in VLDL measurement def: "Quantification of total lipids in VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004529 ! lipid measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022315 name: total phospholipids in lipoprotein particles measurement def: "Quantification of total phospholipids in lipoprotein particles." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004639 ! phospholipid measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022316 name: triglycerides in chylomicrons and extremely large VLDL measurement def: "Quantification of triglycerides in chylomicrons and extremely large VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004530 ! triglyceride measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022317 name: triglycerides in HDL measurement def: "Quantification of triglycerides in HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004530 ! triglyceride measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022318 name: triglycerides in large HDL measurement def: "Quantification of triglycerides in large HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004530 ! triglyceride measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022319 name: triglycerides in large LDL measurement def: "Quantification of triglycerides in large LDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004530 ! triglyceride measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022320 name: triglycerides in LDL measurement def: "Quantification of triglycerides in LDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004530 ! triglyceride measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022321 name: triglycerides in medium HDL measurement def: "Quantification of triglycerides in medium HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004530 ! triglyceride measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022322 name: triglycerides in medium LDL measurement def: "Quantification of triglycerides in medium LDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004530 ! triglyceride measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022323 name: triglycerides in small LDL measurement def: "Quantification of triglycerides in small LDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004530 ! triglyceride measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022324 name: triglycerides in very large HDL measurement def: "Quantification of triglycerides in very large HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004530 ! triglyceride measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022325 name: triglycerides in very large VLDL measurement def: "Quantification of triglycerides in very large VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004530 ! triglyceride measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022326 name: triglycerides in VLDL measurement def: "Quantification of triglycerides in VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004530 ! triglyceride measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022327 name: triglycerides to phosphoglycerides ratio def: "Quantification of triglycerides to phosphoglycerides ratio." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004530 ! triglyceride measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022328 name: triglycerides to total lipids in chylomicrons and extremely large VLDL percentage def: "Quantification of triglycerides to total lipids in chylomicrons and extremely large VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004530 ! triglyceride measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022329 name: triglycerides to total lipids in IDL percentage def: "Quantification of triglycerides to total lipids in IDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004530 ! triglyceride measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022330 name: triglycerides to total lipids in large HDL percentage def: "Quantification of triglycerides to total lipids in large HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004530 ! triglyceride measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022331 name: triglycerides to total lipids in large LDL percentage def: "Quantification of triglycerides to total lipids in large LDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004530 ! triglyceride measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022332 name: triglycerides to total lipids in large VLDL percentage def: "Quantification of triglycerides to total lipids in large VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004530 ! triglyceride measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022333 name: triglycerides to total lipids in medium HDL percentage def: "Quantification of triglycerides to total lipids in medium HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004530 ! triglyceride measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022334 name: triglycerides to total lipids in medium LDL percentage def: "Quantification of triglycerides to total lipids in medium LDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004530 ! triglyceride measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022335 name: triglycerides to total lipids in medium VLDL percentage def: "Quantification of triglycerides to total lipids in medium VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004530 ! triglyceride measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022336 name: triglycerides to total lipids in small HDL percentage def: "Quantification of triglycerides to total lipids in small HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004530 ! triglyceride measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022337 name: triglycerides to total lipids in small LDL percentage def: "Quantification of triglycerides to total lipids in small LDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004530 ! triglyceride measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022338 name: triglycerides to total lipids in small VLDL percentage def: "Quantification of triglycerides to total lipids in small VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004530 ! triglyceride measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022339 name: triglycerides to total lipids in very large HDL percentage def: "Quantification of triglycerides to total lipids in very large HDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004530 ! triglyceride measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022340 name: triglycerides to total lipids in very large VLDL percentage def: "Quantification of triglycerides to total lipids in very large VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004530 ! triglyceride measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022341 name: triglycerides to total lipids in very small VLDL percentage def: "Quantification of triglycerides to total lipids in very small VLDL." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36764567"} comment: To be reviewed for inclusion in OBA. is_a: EFO:0004530 ! triglyceride measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0022342 name: gist882 def: "Human GIST882 cell line with activating Kit mutation (K643E)" [] xref: RRID:CVCL_7044 is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic MONDO:0011719 ! gastrointestinal stromal tumor property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022343 name: SH-EP1 cell def: "Human neuroblastoma cell line, established from brain bone marrow tissue from a 4 years old caucasian white with neuroblastoma" [] synonym: "SH-EPi" EXACT [] xref: BTO:0005788 xref: RRID:CVCL_0F47 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005214 ! neuroblastoma cell line relationship: has_characteristic EFO:0000621 ! neuroblastoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022344 name: Val cell def: "Human B-acute lymphoblastic leukemia (B-ALL) cell derived from the bone marrow of a 50-year-old woman with B-ALL; cells were described in the literature to carry the three-way-translocation t(8;14;18) and to overexpress the BCL2 and MYC genes" [] xref: RRID:CVCL_1819 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000094 ! B-cell acute lymphoblastic leukemia property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022345 name: CUTLL1 cell def: "CUTLL1 is a human T-cell lymphoblastic lymphoma cell line derived from a relapsed patient that harbors a t(7;9)(q34;q34) chromosomal translocation resulting in expression of a TCRB-NOTCH1 fusion transcript and aberrant Notch signaling" [] synonym: "Columbia University T-cell Lymphoblastic Lymphoma 1" EXACT [] xref: RRID:CVCL_4966 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000209 ! T-cell acute lymphoblastic leukemia property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022346 name: 76N cell def: "Normal human mammary epithelial cells" [] xref: RRID:CVCL_A5AG is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022347 name: GM07166VA7 cell def: "SV40 T-antigen transformed derivative of GM07166 NBS1 fibroblast cells." [] synonym: "GM07166SV" EXACT [] xref: RRID:CVCL_WL44 is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic MONDO:0009623 ! Nijmegen breakage syndrome property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022348 name: 184A1 cell def: "immortal continuous human mammary epithelial cells" [] xref: CLO:0001137 xref: PMID:3857588 xref: RRID:CVCL_3040 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002884 ! mammary gland cell line is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022349 name: BL-60 cell def: "Malignant Burkitt lymphoma cell line BL 60" [] synonym: "IARC-BL60" EXACT [] xref: BTO:0001934 xref: RRID:CVCL_7034 is_a: BTO:0000164 ! Burkitt lymphoma cell is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000309 ! Burkitts lymphoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022350 name: T5-1 def: "An Epstein-Barr virus (EBV) transformed lymphoblastoid cell line with Human Leukocyte Antigen (HLA)" [] synonym: "PGLC 33H(T5-1)" EXACT [] synonym: "T5-1 (3.1.0)" EXACT [] synonym: "T51 LCL" EXACT [] xref: RRID:CVCL_E839 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022351 name: REN def: "Pleural epithelioid mesothelioma cell line" [] xref: RRID:CVCL_M202 is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:1001044 ! mesothelial neoplasm property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022352 name: scc12f2 def: "Normal human epidermal premalignant keratinocyte-derived cell line" [] xref: RRID:CVCL_M673 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022353 name: KMC-1 def: "cholangiocellular (bile duct) carcinoma cell line" [] xref: RRID:CVCL_B269 is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022354 name: HBC4 cell def: "Human breast cancer cell line HBC4" [] xref: RRID:CVCL_B496 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic MONDO:0007254 ! breast cancer property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022355 name: MDA-Panc-28 cell def: "Human pancreatic adenocarcinoma cell line." [] xref: BTO:0003303 xref: RRID:CVCL_3917 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:1000044 ! pancreatic adenocarcinoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022356 name: MM1-144 def: "Human myeloma cell line MM1-144" [] xref: RRID:CVCL_EI97 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005292 ! lymphoblastoid cell line property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022357 name: NZG0906 def: "human glioblastoma primary tumor-derived line cell" [] xref: PMID:32320427 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic MONDO:0018177 ! glioblastoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022358 name: Fuji cells def: "Human Synovial Sarcoma cell line expressing SYT-SSX2 fusion protein." [] xref: RRID:CVCL_D880 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0001376 ! synovial sarcoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022359 name: SK-LC-5 def: "Human lung adenocarcinoma cell line" [] xref: RRID:CVCL_5473 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022360 name: WT47 cells def: "An Epstein-Barr virus (EBV) transformed lymphoblastoid cell line with Human Leukocyte Antigen" [] xref: RRID:CVCL_E886 is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022361 name: NA8-MEL cells def: "Human melanoma cell line NA8" [] xref: RRID:CVCL_S599 is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022362 name: Me67 cells def: "Human melanoma cell line ME67" [] xref: RRID:CVCL_VT20 is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022363 name: SLB-1 cells def: "Homo sapiens T cell, HTLV-1 immortalized" [] xref: RRID:CVCL_RT63 is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022364 name: Mel202 cells def: "Human uveal melanoma cell line Mel202" [] xref: PMID:1748551 xref: RRID:CVCL_C301 is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:1000616 ! Uveal Melanoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022365 name: NK3.3 cell def: "Human Natural killer cell" [] xref: RRID:CVCL_7994 is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022366 name: WM852 cell def: "Human melanoma cell line WM852" [] synonym: "EST84" EXACT [] synonym: "WC00065" EXACT [] xref: RRID:CVCL_6804 is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002617 ! metastatic melanoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022367 name: D04 cell def: "Human melanoma cell line D04" [] synonym: "D04M" EXACT [] xref: RRID:CVCL_H604 is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022368 name: MM415 cell def: "MM415 human melanoma cell line" [] xref: RRID:CVCL_2608 is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022369 name: MM485 cell def: "MM485 human melanoma cell line" [] xref: RRID:CVCL_2610 is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002617 ! metastatic melanoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022370 name: WM1791c cell def: "Human WM1791c melanoma cells" [] synonym: "WC00086" EXACT [] xref: RRID:CVCL_6793 is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002617 ! metastatic melanoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022371 name: PMWK cell def: "Human PMWK melanoma cells" [] synonym: "WK" EXACT [] xref: RRID:CVCL_A665 is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022372 name: ut7 cell def: "Human megakaryoblastic cell line" [] xref: CLO:0009490 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000222 ! acute myeloid leukemia property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022373 name: gm9607 cell def: "ATM-/- fibroblast cell line GM9607" [] xref: CLO:0026603 is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic MONDO:0008840 ! ataxia telangiectasia property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022374 name: sum1315 def: "Human SUM1315- metastatic/invasive breast ductal carcinoma cell line" [] xref: CLO:0009916 xref: RRID:CVCL_5589 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005215 ! breast adenocarcinoma cell line relationship: has_characteristic EFO:0000186 ! invasive breast ductal carcinoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022375 name: protection against nicotine dependence def: "Safeguarding an individual from physical and psychological reliance on inhaling and exhaling tobacco smoke, thus preventing health detriments and social dysfunction associated with nicotine addiction." [] is_a: GO:0008150 ! biological_process property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2023-09-16T16:30:34Z xsd:dateTime [Term] id: EFO:0022376 name: b5-589 cell def: "Human mammary epithelial cell line- immortalized" [] xref: CLO:0001138 xref: RRID:CVCL_4688 is_a: EFO:0001641 ! epithelial cell derived cell line property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022377 name: ankylosing spondylitis disease activity score def: "The Ankylosing Spondylitis Disease Activity Score (ASDAS) is an index to assess disease activity in Ankylosing Spondylitis (AS)." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:37659414"} synonym: "ASDAS" EXACT [] is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:0003898 ! is_about ankylosing spondylitis property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2023-10-13T08:28:55Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022378 name: response to secukinumab def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a secukinumab stimulus." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:37659414"} is_a: EFO:0010051 ! response to immunosuppressant property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2023-10-13T08:31:56Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022379 name: American College of Rheumatology Improvement Criteria def: "Standard criteria to compare the effectiveness of medications or treatments for rheumatoid diseases. The American College of Rheumatology criteria consists of a variety of physical assessments, laboratory evaluation, and patient assessments (NCIT)." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:37659414"} synonym: "ACR Improvement Criteria" EXACT [] xref: NCIT:C97995 is_a: EFO:0001444 ! measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2023-10-13T08:33:41Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022380 name: L-428 cell def: "Human Hodgkin lymphoma L-428 cells" [] xref: CLO:0007189 xref: RRID:CVCL_1361 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000183 ! Hodgkins lymphoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022381 name: Health Assessment Questionnaire Disability Index def: "A questionnaire for the assessment of arthritis" [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:37659414"} synonym: "HAQ-DI" EXACT [] xref: NCIT:C132288 is_a: EFO:0001444 ! measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2023-10-13T08:35:26Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022382 name: psoriasis area and severity index def: "A standardized survey developed by Fredriksson and Pettersson in 1978 to calculate the intensity and extent of psoriatic plaques before, during, and after retinoid treatment in chronic plaquetype psoriasis. The instrument utilizes a 5-point rating scale to measure intensity and assigns a numerical score for the percentage of anatomical involvement." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:37659414"} synonym: "PASI" EXACT [] xref: NCIT:C135734 is_a: EFO:0001444 ! measurement property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2023-10-13T08:37:22Z xsd:dateTime property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0022383 name: protein extraction protocol def: "A protocol that describes how to isolate protein from a tissue, cell culture or other biological samples." [] is_a: EFO:0000490 ! extraction protocol property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2023-10-13T09:00:22Z xsd:dateTime [Term] id: EFO:0022384 name: DNA extraction protocol def: "Nucleic acid extraction protocol that describes how to remove and purify DNA from an input material. This requires physical and/or chemical methods in order to separate the DNA from cell membranes, proteins and other cellular components." [] is_a: EFO:0002944 ! nucleic acid extraction protocol property_value: dc-creator "Zoe May Pendlington" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2023-10-13T09:01:13Z xsd:dateTime [Term] id: EFO:0022386 name: HEP-3B cell def: "human hepatocellular carcinoma (HCC) cells (p53-null)." [] xref: CLO:0003710 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005216 ! hepatoma cell line relationship: has_characteristic EFO:0000182 ! hepatocellular carcinoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022388 name: T-47D cell def: "Epithelial cells derived from human breast tumour" [] xref: CLO:0009251 xref: RRID:CVCL_0553 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005215 ! breast adenocarcinoma cell line relationship: has_characteristic EFO:0006318 ! breast ductal adenocarcinoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022389 name: ECV304 cell def: "Human umbilical cord, endothelial ECV304" [] xref: CLO:0002881 xref: RRID:CVCL_2029 is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022390 name: GM03318 cell def: "Human GM03318 fibroblast obtained from patients with Coffin-Lowry Syndrome (CLS)." [] xref: CLO:0016774 xref: RRID:CVCL_1R64 is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic MONDO:0010561 ! Coffin-Lowry syndrome property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022391 name: GM02184 cell def: "Human lymphoblastoid cell line" [] synonym: "GM02184B" EXACT [] synonym: "GM02184C" EXACT [] synonym: "GM02184D" EXACT [] synonym: "GM17220" EXACT [] synonym: "GM2184A" EXACT [] xref: CLO:0031785 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022392 name: GM05849 cell def: "Human Ataxia telangiectasia fibroblast cell line SV40 transformed." [] synonym: "AT5BIVA" EXACT [] synonym: "ATSV1" EXACT [] synonym: "GM05849A" EXACT [] synonym: "GM05849B" EXACT [] synonym: "GM5849C" EXACT [] xref: CLO:0024705 xref: RRID:CVCL_7442 is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic MONDO:0008840 ! ataxia telangiectasia property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022393 name: MT2 cell def: "Human T cell, lymphoblast, Human T Lymphotrohpic Virus 1 (HTLV-1) immortalized" [] synonym: "MT-2J" EXACT [] synonym: "MT-2Org" EXACT [] xref: CLO:0007888 xref: RRID:CVCL_2631 is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022394 name: HT-1080 cell def: "Human with IEF of AST, LDH, NP established from the biopsy from a fibrosarcoma of a 35-year-old Caucasian man in 1972" [] xref: CLO:0004276 xref: RRID:CVCL_0317 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002087 ! fibrosarcoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022398 name: TF1 cell def: "TF-1 have been derived from a patient with erythroleukaemia. They show complete growth dependency on GM-CSF or IL-3, and carry a homogeneous chromosomal abnormality (54,X)." [] synonym: "MFD-1" EXACT [] xref: CLO:0009326 xref: RRID:CVCL_0559 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000218 ! acute erythroleukemia property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022399 name: AML-193 cell def: "Human acute monocytic leukemia cell line, established from a 13 years old gir" [] xref: BTO:0006203 xref: CLO:0001718 xref: RRID:CVCL_1071 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000221 ! acute monocytic leukemia property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022400 name: NT2-N cell def: "Human neuronal (NT2N) cells derive from an NT2 human teratocarcinoma cell line" [] synonym: "hNT" EXACT [] synonym: "NTERA-2N" EXACT [] xref: BTO:0002574 xref: RRID:CVCL_7929 is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022401 name: SK-N-BE(2) cell def: "The SK-N-BE(2) neuroblastoma cell line was established in November of 1972 from a bone marrow biopsy taken from child with disseminated neuroblastoma after repeated courses of chemotherapy and radiotherapy" [] xref: BTO:0002696 xref: CLO:0009052 xref: RRID:CVCL_0528 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005214 ! neuroblastoma cell line relationship: has_characteristic EFO:0000621 ! neuroblastoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022402 name: Saos-2 cell def: "Homo sapiens SAOS-2 cell line established from primary osteogenic sarcoma" [] synonym: "SaOS" EXACT [] synonym: "Sarcoma OSteogenic-2" EXACT [] xref: BTO:0000971 xref: CLO:0008947 xref: RRID:CVCL_0548 is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022403 name: WS1 cell def: "WS1 is a fibroblast cell isolated from the skin of a Black female donor" [] synonym: "WT-Fibr2" EXACT [] xref: CLO:0009634 xref: RRID:CVCL_2766 is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022404 name: KM-12C cell def: "Colorectal carcinoma cell line derived from a primary tumor" [] xref: BTO:0003312 xref: RRID:CVCL_9547 is_a: BTO:0001616 ! colorectal cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:1001951 ! colorectal carcinoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022405 name: HN-5 Cell def: "Well-differentiated human squamous carcinoma cell line (LICR-LON-HN5)" [] synonym: "LICR-HN5" EXACT [] synonym: "LICR-LON-HN5" EXACT [] xref: RRID:CVCL_8128 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000707 ! squamous cell carcinoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022406 name: MNT-1 cell def: "Human melanoma cell line" [] xref: BTO:0002946 xref: RRID:CVCL_5624 is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000400 ! diabetes mellitus property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022407 name: AG11395 cell def: "Human Werner Syndrome (WS) cell line transformed with SV40" [] synonym: "WS780" EXACT [] xref: CLO:0021582 xref: RRID:CVCL_U281 is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic MONDO:0010196 ! Werner syndrome property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022408 name: HBL-1 cell def: "HBL-1 (aka human is an EBV-negative B-cell lymphoma cell line established from the pleural effusion of a patient with malignant lymphoma, diffuse, large cell." [] xref: BTO:0002522 xref: CLO:0037256 xref: RRID:CVCL_4213 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000403 ! diffuse large B-cell lymphoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022409 name: REH cell def: "Human B cell precursor leukemia REH cells" [] xref: BTO:0001163 xref: CLO:0008781 xref: CLO:0008782 xref: RRID:CVCL_1650 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000220 ! acute lymphoblastic leukemia property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022410 name: hTERT-HME1 cell def: "hTERT-HME1 non-oncogenic immortalized mammary epithelial cell line" [] synonym: "HME1" EXACT [] synonym: "ME16C" EXACT [] xref: CLO:0004291 xref: RRID:CVCL_3383 is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022411 name: BOSC-23 cell def: "Human embryonic kidney cell line" [] synonym: "Lenti-X 293T" EXACT [] xref: BTO:0004573 xref: RRID:CVCL_4401 is_a: EFO:0001643 ! kidney derived cell line is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022413 name: ARP-1 cell def: "Human myeloma cell line MM1-144" [] synonym: "ARP" EXACT [] xref: BTO:0003931 xref: RRID:CVCL_D523 is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022414 name: ALL-SIL cell def: "ALL-SIL -Human T-ALL (T cell acute lymphoblastic leukemia) cell line" [] synonym: "Sil-ALL" EXACT [] xref: BTO:0005360 xref: CLO:0037168 xref: RRID:CVCL_1805 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000209 ! T-cell acute lymphoblastic leukemia property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022415 name: hTERT-HPNE cell def: "Human normal pancreas duct cell line; established from a 52 years old male" [] xref: BTO:0006092 xref: RRID:CVCL_C466 is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022416 name: L-540 cell def: "Human Hodgkin lymphoma cell line, established from the bone marrow of a 20-year-old woman with Hodgkin lymphoma (nodular sclerosis; stage IVB, pre-terminal stage)." [] xref: BTO:0005176 xref: CLO:0007201 xref: RRID:CVCL_1362 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000183 ! Hodgkins lymphoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022417 name: RWP-1 def: "Human pancreatic adenocarcinoma cell line" [] xref: PMID:3884143 xref: RRID:CVCL_4373 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:1000044 ! pancreatic adenocarcinoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022418 name: EJ138 cell def: "Human bladder transitional cell carcinoma cell line" [] xref: BTO:0003553 xref: CLO:0002906 xref: RRID:CVCL_2443 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0006544 ! bladder transitional cell carcinoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022420 name: PEER cell def: "Human T cell leukemia; established from the peripheral blood of a 4-year-old girl with T cell acute lymphoblastic leukemia (T-ALL) in second relapse in 1977" [] xref: BTO:0001959 xref: CLO:0008416 xref: RRID:CVCL_1913 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000209 ! T-cell acute lymphoblastic leukemia property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022421 name: T1 (174 x CEM.T1) cell def: "Human lymphoblastoid cell line" [] xref: CLO:0009238 xref: RRID:CVCL_7904 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005292 ! lymphoblastoid cell line property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022422 name: Eca-109 cell def: "Human esophageal squamous carcinoma cell line" [] xref: BTO:0005758 xref: RRID:CVCL_6898 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0005922 ! esophageal squamous cell carcinoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022423 name: YT cell def: "Human T/NK cell leukemia cell line, established from the pericardial fluid of a 15-year-old man with acute lymphoblastic leukemia (ALL) at relapse (with accompanying thymoma) in 1983" [] xref: BTO:0005228 xref: RRID:CVCL_1797 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000220 ! acute lymphoblastic leukemia property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022424 name: SK-MEL-37 cell def: "Human cell line established from a metastatic melanoma" [] xref: BTO:0002967 xref: RRID:CVCL_3878 is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002617 ! metastatic melanoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022425 name: RHEK-1 cell def: "The human epidermal keratinocyte line, designated RHEK-1, was used at passage 23 for these transformation studies. This cell line was established from primary foreskin epidermal keratinocytes after infection with the Adl2-SV40 hybrid virus" [] xref: BTO:0004792 xref: RRID:CVCL_5161 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022426 name: M-07E cell def: "A subline of the M-07 human megakaryoblastic leukemia cell line" [] xref: BTO:0005248 xref: CLO:0007447 xref: RRID:CVCL_2106 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0003025 ! acute megakaryoblastic leukaemia property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022427 name: TOV-21G cell def: "Human ovary cancer cell line" [] xref: BTO:0005183 xref: CLO:0009385 xref: RRID:CVCL_3613 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic MONDO:0008170 ! ovarian cancer property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022428 name: KOPN-8 cell def: "Human B cell precursor leukemia cell line (MLL-ENL fusion)" [] xref: CLO:0037178 xref: RRID:CVCL_1866 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic MONDO:0000870 ! childhood acute lymphoblastic leukemia property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022429 name: MUM-2B cell def: "Highly invasive human uveal melanoma line" [] xref: BTO:0005298 xref: RRID:CVCL_3447 is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:1000616 ! Uveal Melanoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022430 name: RCC-4 cell def: "Renal cell carcinoma cell line stably transfected with an empty expression vector, pcDNA3, conferring neomycin resistance" [] xref: BTO:0005691 xref: RRID:CVCL_0498 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000681 ! renal cell carcinoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022431 name: HOSE cell def: "Human ovarian surface epithelial cell line." [] xref: BTO:0002555 is_a: BTO:0000164 ! Burkitt lymphoma cell is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000309 ! Burkitts lymphoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022432 name: 2fTGH cell def: "The human sarcoma cell line HT 1080 was transfected with a vector encoding the selectable marker guanine phosphoribosyltransferase regulated by alpha interferon to create the 2fTGH cell line, enabling the selection of mutations in genes encoding components of the interferon signalling pathway" [] xref: BTO:0005765 xref: RRID:CVCL_0115 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000691 ! sarcoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022433 name: C8161.9 cell def: "Human highly metastatic melanoma cell line" [] synonym: "C8161 subclone 9" EXACT [] xref: BTO:0005751 xref: RRID:CVCL_0196 is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002617 ! metastatic melanoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022434 name: MEL-JUSO cell def: "Human melanoma, established from the primary tumor of a 58-year-old woman with melanoma in 1977" [] xref: BTO:0001588 xref: CLO:0007676 xref: RRID:CVCL_1403 is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000756 ! melanoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022435 name: CL1-0 cell def: "Human lung adenocarcinoma cell line. The human lung cancer cell line CL1 was established from a 64-years-old man with a poorly differentiated adenocarcinoma" [] xref: BTO:0002875 xref: RRID:CVCL_3871 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022436 name: CL1-5 cell def: "Human lung adenocarcinoma cell line" [] xref: BTO:0002876 xref: RRID:CVCL_D521 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002934 ! lung cancer cell line relationship: has_characteristic EFO:0000571 ! lung adenocarcinoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022437 name: LIM1215 cell def: "Human colonic cancer cell line" [] xref: BTO:0001916 xref: RRID:CVCL_2574 is_a: BTO:0000797 ! colonic cancer cell line is_a: BTO:0001616 ! colorectal cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:1001950 ! colon carcinoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022438 name: NCCIT cell def: "Human pluripotent embryonal carcinoma, teratocarcinoma cell line; established in 1985 from a mediastinal mixed germ cell tumor of an adult Japanese male. This pluripotent stem cell line is capable of somatic and extraembryonic differentiation" [] xref: BTO:0004180 xref: CLO:0007955 xref: RRID:CVCL_1451 is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022439 name: ML-1 cell def: "Human acute myeloblastic leukaemia cell line from human peripheral blood" [] xref: BTO:0001884 xref: CLO:0007735 xref: RRID:CVCL_0436 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000222 ! acute myeloid leukemia property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022440 name: KGN cell def: "A steroidogenic human ovarian granulosa-like tumor cell line, from a patient with invasive ovarian granulosa cell carcinoma" [] synonym: "RCB1154" EXACT [] xref: BTO:0005671 xref: CLO:0051454 xref: RRID:CVCL_0375 is_a: EFO:0001641 ! epithelial cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:1000421 ! Ovarian Granulosa Cell Tumor property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022441 name: TGW cell def: "Human TGW neuroblastoma cells" [] synonym: "TGW-I-nu" EXACT [] synonym: "TGW-nu" EXACT [] synonym: "TGW-nu-1" EXACT [] synonym: "TOG" EXACT [] xref: CLO:0009830 xref: RRID:CVCL_1771 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0005214 ! neuroblastoma cell line relationship: has_characteristic EFO:1000075 ! Adrenal Gland Neuroblastoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022442 name: PC-3M cell def: "Human prostate cancer cell line." [] xref: BTO:0005220 xref: RRID:CVCL_9555 is_a: BTO:0001033 ! prostate cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002891 ! prostate derived cell line relationship: has_characteristic MONDO:0008315 ! prostate cancer property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022443 name: 553B-mel def: "Human metastatic melanoma cell line" [] xref: PMID:10048982 xref: RRID:CVCL_W285 is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002617 ! metastatic melanoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022444 name: KP-L-RY def: "Human infant acute lymphoblastic leukemia cell line" [] synonym: " K.P.L.RY" EXACT [] synonym: "KPLRY" EXACT [] synonym: "Kyoto Pediatrics-Leukemia-RY" EXACT [] xref: PMID:12399976 xref: RRID:CVCL_7984 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic MONDO:0000870 ! childhood acute lymphoblastic leukemia property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022445 name: LCL2 def: "Human lymphoblastoid cell line 2, in vitro transformed EBV-positive" [] xref: PMID: 19881539 xref: RRID:CVCL_C0HZ is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022446 name: MOLM-14 cell def: "Human acute myeloid leukemia cell line. Sister cell line of MOLM-13 cell" [] xref: BTO:0005720 xref: RRID:CVCL_7916 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000222 ! acute myeloid leukemia property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022447 name: U-343MG cell def: "Human glioblastoma cell line" [] synonym: "343 MG" EXACT [] synonym: "343 MG(9)" EXACT [] synonym: "343MG" EXACT [] synonym: "U-343" EXACT [] synonym: "U343" EXACT [] xref: BTO:0006221 xref: RRID:CVCL_S471 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic MONDO:0018177 ! glioblastoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022448 name: GripTite 293 MSR cell def: "The GripTite™ 293 MSR Cell Line is a genetically engineered Human Embryonic Kidney (HEK 293) cell line that expresses the human macrophage scavenger receptor and strongly adheres to standard tissue culture plates for dependable results" [] synonym: "293-H MSR" EXACT [] synonym: "HEK293MSR" EXACT [] synonym: "MSR 293" EXACT [] xref: CLO:0037228 xref: RRID:CVCL_U428 is_a: EFO:0001643 ! kidney derived cell line is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022449 name: RCC-10 cell def: "Human renal clear cell carcinoma cell line. " [] xref: BTO:0004932 xref: RRID:CVCL_6265 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001643 ! kidney derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0000681 ! renal cell carcinoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022450 name: HB1119 cell def: "Human acute lymphoblastic leukemia cell line" [] synonym: "19" EXACT [] synonym: "19)" EXACT [] synonym: "HB 11" EXACT [] synonym: "HB(11" EXACT [] synonym: "HB11.19" EXACT [] xref: PMID:16523483 xref: RRID:CVCL_8227 is_a: EFO:0001640 ! B cell derived cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000220 ! acute lymphoblastic leukemia property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022451 name: AT3ABR cell def: "Human ataxia telangiectasia lymphoblastoid cell line" [] xref: PMID:7433105 xref: RRID:CVCL_M912 is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic MONDO:0008840 ! ataxia telangiectasia property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022452 name: Mel-RM cell def: "Human melanoma cell line" [] xref: BTO:0005715; PMID\:7520026 xref: RRID:CVCL_D548 is_a: BTO:0000849 ! melanoma cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002617 ! metastatic melanoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022453 name: HS-68 cell xref: BTO:0002260 xref: RRID:CVCL_0839 is_a: EFO:0002009 ! fibroblast derived cell line is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022454 name: 3A(tPA-30-1) cell def: "human placenta-derived cell line" [] synonym: "TPA 30-1" EXACT [] synonym: "TPA30-1" EXACT [] synonym: "tPA30-1" EXACT [] xref: CLO:0001325 xref: RRID:CVCL_2820 is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022455 name: BE3 def: "Human esophagus adenocarcinoma cell line" [] synonym: "Barret's Esophagus-3" EXACT [] synonym: "BE-3" EXACT [] xref: PMID:20075370 xref: RRID:CVCL_JY35 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:1001939 ! Barrett adenocarcinoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022456 name: HMC-1-8 cell def: "Human breast-derived cell line" [] synonym: "HMC18" EXACT [] xref: CLO:0037257 xref: RRID:CVCL_2949 is_a: EFO:0001639 ! cancer cell line relationship: has_characteristic MONDO:0007254 ! breast cancer property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022457 name: VMRC-RCW cell def: "Human renal carcinoma cell line" [] synonym: "RCB1963" EXACT [] xref: BTO:0003714 xref: RRID:CVCL_1790 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0001643 ! kidney derived cell line is_a: EFO:0002888 ! Homo sapiens cell line relationship: has_characteristic EFO:0002890 ! renal carcinoma property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022458 name: HPB-ALL cell def: "Human T cell leukemia cell line; established from the peripheral blood of a 14-year-old Japanese boy with ALL and thymoma at diagnosis in 1973" [] synonym: "FCCH1018" EXACT [] synonym: "HPBALL" EXACT [] synonym: "RCB1935" EXACT [] xref: BTO:0001952 xref: CLO:0050988 xref: RRID:CVCL_1820 is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000220 ! acute lymphoblastic leukemia property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022459 name: CWR-22 cell def: "Androgen-dependent human prostate cancer cell line." [] xref: BTO:0004594 xref: RRID:CVCL_3967 is_a: BTO:0001033 ! prostate cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002891 ! prostate derived cell line relationship: has_characteristic MONDO:0008315 ! prostate cancer property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022460 name: T47D-Y def: "Human breast cancer cell line (derivative of T47D cell line)" [] xref: PMID:8033109 xref: RRID:CVCL_1H30 is_a: EFO:0001639 ! cancer cell line relationship: has_characteristic MONDO:0007254 ! breast cancer property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022461 name: HEK-293FT cell def: "The 293FT cell line is a fast-growing, highly transfectable clonal isolate derived from human embryonal kidney cells transformed with the SV40 large T antigen" [] synonym: "293-FT" EXACT [] synonym: "293FT" EXACT [] synonym: "FT-293" EXACT [] xref: BTO:0005029 xref: RRID:CVCL_6911 is_a: EFO:0001643 ! kidney derived cell line is_a: EFO:0002888 ! Homo sapiens cell line property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0022462 name: NOMO-1 cell def: "Human acute myeloid leukemia cell line; established from the bone marrow of a 31-year-old woman with acute myeloid leukemia at 2nd relapse" [] xref: BTO:0005916 xref: RRID:CVCL_1609 is_a: EFO:0001639 ! cancer cell line is_a: EFO:0002888 ! Homo sapiens cell line is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: has_characteristic EFO:0000222 ! acute myeloid leukemia property_value: IAO:0000117 "Kalpana Panneerselvam" xsd:string [Term] id: EFO:0030000 name: STARmap def: "STARmap is an image-based technology for 3D intact-tissue RNA sequencing, which integrates hydrogel-tissue chemistry, targeted signal amplification, and in situ sequencing." [https://orcid.org/0000-0002-3090-9894, PMID:29930089] synonym: "Spatially-resolved Transcript Amplicon Readout Mapping" EXACT [] is_a: EFO:0001457 ! RNA assay is_a: EFO:0002909 ! microscopy assay is_a: OBI:0001686 ! in-situ hybridization assay property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030001 name: sci-CAR def: "A combinatorial indexing-based coassay that jointly profiles chromatin accessibility and mRNA (CAR) in each of thousands of single cells, combining sci–ATAC sequencing (sci-ATAC-seq) and sci-RNA-seq into a single protocol." [https://orcid.org/0000-0002-3163-0115, PMID:30166440] subset: http://www.ebi.ac.uk/efo/added_for_HCA synonym: "single-cell combinatorial indexing chromatin accessibility and mRNA profiling" EXACT [] is_a: EFO:0010183 ! single cell library construction relationship: has_part EFO:0008925 ! scATAC-seq (cell index) relationship: has_part EFO:0010550 ! sci-RNA-seq property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030002 name: microwell-seq def: "A platform for high-throughput single-cell RNA-sequencing. An agarose plate with microwells is used to trap 5-10K individual cells. Barcoded magnetic beads are loaded and trapped into each well. Each single bead is conjugated with 107–108 oligonucleotides, which share the same cellular barcode. Each oligonucleotide consists of a primer sequence, a cell barcode, a unique molecular identifier (UMI), and a poly T tail. After incubation of beads and cells in a soft flow of lysis buffer, beads with captured mRNA are retrieved with a magnet. Beads are collected in a tube in which reverse transcription and template switch steps are performed using the Smart-seq2 protocol (Picelli et al., 2013). Amplified cDNA is fragmented by a customized transposase that carries two identical insertion sequences. The 3′ ends of the transcripts are then enriched during library generation using PCR and sequenced using an Illumina Sequencing Platform." [https://orcid.org/0000-0002-2443-7325, PMID:29474909] subset: http://www.ebi.ac.uk/efo/added_for_HCA synonym: "Microwell-Seq" EXACT [] is_a: EFO:0010183 ! single cell library construction property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030003 name: 10x 3' transcription profiling def: "10x 3' transcription profiling is the 10x-based single-cell technology that sequences mRNA molecules from their 3' end." [https://orcid.org/0000-0002-8674-0039] is_a: EFO:0030080 ! 10x transcription profiling property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030004 name: 10x 5' transcription profiling def: "10x 5' transcription profiling is the 10x-based single-cell technology that sequences mRNA molecules from their 5' end." [https://orcid.org/0000-0002-8674-0039] is_a: EFO:0030080 ! 10x transcription profiling property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030005 name: spatial transcriptomics by high-throughput sequencing def: "A spatial transcriptomics assay that measures spatially defined transcription by high-throughput sequencing." [https://orcid.org/0000-0002-8674-0039] is_a: EFO:0002697 ! assay by high throughput sequencer is_a: EFO:0008994 ! spatial transcriptomics property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030006 name: immune sequencing def: "A sequencing assays that collects a multitude of genetic sequences for B Cell Receptors (BCRs) and T Cell Receptors (TCRs) within a tissue (these loci show large amounts of somatic mutations)." [http://orcid.org/0000-0001-8575-006X, PMID:32199980] synonym: "immune profiling" BROAD [] synonym: "immune repertoire deep sequencing" NARROW [] synonym: "immune repertoire sequencing" NARROW [] xref: NCIT:C158249 is_a: EFO:0003740 ! assay by sequencer property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030007 name: 10x scATAC-seq def: "A single cell ATAC-seq method for profiling of chromatin accessibility. For library construction, single cells or single nuclei are isolated into droplets using 10x Chromium technnolgy." [http://orcid.org/0000-0002-8674-0039] is_a: EFO:0001457 ! RNA assay is_a: EFO:0008995 ! 10x technology is_a: EFO:0010891 ! scATAC-seq property_value: dc-creator "paolaroncaglia" xsd:string [Term] id: EFO:0030008 name: CITE-seq (cell surface protein profiling) def: "The use of CITE-seq technology with the purpose of quantifying cell surface protein expression in addition to transcriptomic readout in single cells." [http://orcid.org/0000-0002-8674-0039, PMID:30567574] is_a: EFO:0001458 ! protein assay is_a: EFO:0009294 ! CITE-seq property_value: dc-creator "paolaroncaglia" xsd:string [Term] id: EFO:0030009 name: CITE-seq (sample multiplexing) def: "The use of CITE-seq technology with the purpose of multiplexing single-cell samples from different sources." [http://orcid.org/0000-0002-8674-0039, https://orcid.org/0000-0002-3564-4813, PMID:30567574] is_a: EFO:0009294 ! CITE-seq is_a: EFO:0030077 ! cell hashing property_value: dc-creator "paolaroncaglia" xsd:string [Term] id: EFO:0030010 name: 10x feature profiling def: "10x feature barcode technology is a method for adding extra channels of information to cells by running single-cell gene expression in parallel with other assays. This is done by generating additional sequencing libraries within the same droplet containing a single cell. The readout of these libraries are known oligonucleotides that are coupled to cell surface proteins antibodies or sgRNAs." [http://orcid.org/0000-0002-8674-0039] is_a: EFO:0008995 ! 10x technology property_value: dc-creator "paolaroncaglia" xsd:string [Term] id: EFO:0030011 name: 10x feature barcode (cell surface protein profiling) def: "The use of 10x Genomics feature barcode technology with the purpose of quantifying cell surface protein expression in addition to transcriptomic readout in single cells." [http://orcid.org/0000-0002-8674-0039] is_a: EFO:0001457 ! RNA assay is_a: EFO:0001458 ! protein assay is_a: EFO:0030010 ! 10x feature profiling property_value: dc-creator "paolaroncaglia" xsd:string [Term] id: EFO:0030012 name: 10x feature barcode (sample multiplexing) def: "The use of 10x Genomics feature barcode technology with the purpose of multiplexing single-cell samples from different sources." [http://orcid.org/0000-0002-8674-0039] is_a: EFO:0030010 ! 10x feature profiling property_value: dc-creator "paolaroncaglia" xsd:string [Term] id: EFO:0030013 name: 10x feature barcode (CRISPR screening) def: "The use of 10x Genomics feature barcode technology with the purpose of performing a CRISPR screening." [http://orcid.org/0000-0002-8674-0039] is_a: EFO:0030010 ! 10x feature profiling property_value: dc-creator "paolaroncaglia" xsd:string [Term] id: EFO:0030014 name: bulk immune repertoire sequencing def: "An immune repertoire sequencing assay that lyses cells and sequences BCRs and TCRs indiscriminately." [http://orcid.org/0000-0001-8575-006X, PMID:24441474] is_a: EFO:0030006 ! immune sequencing property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030015 name: single cell immune repertoire sequencing def: "An immune repertoire sequencing assay that sequences BCRs and TCRs that can be mapped to a single cell." [http://orcid.org/0000-0001-8575-006X] is_a: EFO:0030006 ! immune sequencing property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030016 name: sample splitting def: "Physical separation of a material, e.g. tissue obtained from a biopsy, into discrete instances." [https://orcid.org/0000-0002-3293-5463] synonym: "aliquotting" EXACT [] synonym: "sub-sampling" EXACT [] is_a: EFO:0002694 ! experimental process property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030017 name: RCH-ACV def: "RCH-ACV cell line is a human B cell precursor leukemia cell line established from a bone marrow sample of a child with acute lymphoblastic leukemia." [PMID:3455845] synonym: "RCH" BROAD [] synonym: "RCHACV" EXACT [] xref: BTO:0003376 is_a: EFO:0002937 ! lymphoma or leukaemia cell line property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030018 name: BLaER1 def: "BLaER1 cell line is a tamoxifen-inducible subclone of the RCH-ACV B-cell leukemia cell line genetically modified using a retrovirus vector to express C/EBPα fused with the estrogen receptor hormone binding domain (ER) and GFP." [PMID:23545498] synonym: "B cell Leukemia C/EBPalphaER clone 1" EXACT [] is_a: EFO:0002937 ! lymphoma or leukaemia cell line relationship: RO:0001000 EFO:0030017 ! derives_from RCH-ACV property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030019 name: Seq-Well S3 def: "Seq-Well with second strand synthesis." [PMID:33053333] synonym: "Seq-Well S^3" EXACT [] is_a: EFO:0008919 ! Seq-Well property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030020 name: breast milk collection def: "Collection of a breast milk specimen from an organism." [https://orcid.org/0000-0002-7431-4139, PMID:33216249] subset: http://www.ebi.ac.uk/efo/added_for_HCA synonym: "breast milk expression" NARROW [] synonym: "breast milk pumping" NARROW [] is_a: OBI:0600005 ! collecting specimen from organism property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030021 name: Nx1-seq def: "Next generation one-cell sequencing (Nx1-seq) is a single cell transcriptomic library preparation method which conjugates polystyrene beads to barcode nucleotides by means of emulsion PCR using oligo-dTs. The beads are mixed on a chamber slide containing PDMS microwells which fit one cell per well. The slide is then washed with a cell suspension to capture and barcode individual cells." [https://orcid.org/0000-0002-7431-4139, PMID:30968360] subset: http://www.ebi.ac.uk/efo/added_for_HCA synonym: "next generation one-cell sequencing" EXACT [] is_a: EFO:0010183 ! single cell library construction property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030022 name: raw matrix generation def: "A data transformation process involved in generating a raw matrix from raw data." [http://orcid.org/0000-0002-6583-8504, PMID:31217225] subset: http://www.ebi.ac.uk/efo/added_for_HCA is_a: OBI:0200000 ! data transformation property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030023 name: processed matrix generation def: "A data transformation process involved in generating a processed matrix from sequence data and/or count matrices, including demultiplexing samples, quality control, normalization, data correction, and feature selection." [http://orcid.org/0000-0002-6583-8504] subset: http://www.ebi.ac.uk/efo/added_for_HCA is_a: OBI:0200000 ! data transformation property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030024 name: analysis of matrices def: "A data transformation process involved in analysing expression matrices, including visualisation, comparison or integration with other datasets, clustering, and differential expression analysis." [http://orcid.org/0000-0002-6583-8504, PMID:29608179] subset: http://www.ebi.ac.uk/efo/added_for_HCA is_a: OBI:0200000 ! data transformation property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030025 name: spatial analysis def: "A data transformation process involved in analysing spatial images or data." [http://orcid.org/0000-0002-6583-8504, PMID:33406409] subset: http://www.ebi.ac.uk/efo/added_for_HCA is_a: OBI:0200000 ! data transformation property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030026 name: sci-Plex def: "The combination of nuclear hashing and sci-RNA-seq into a single workflow for multiplex transcriptomics, enabling the capture of gene expression profiles from thousands of experimental conditions in a single experiment." [PMID:31806696] is_a: EFO:0010550 ! sci-RNA-seq property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030027 name: snmC-Seq2 def: "A protocol for single nucleus methylcytosine sequencing. snmC-seq2 provides improved read mapping, reduced artifactual reads, enhanced throughput, as well as increased library complexity and coverage uniformity compared to snmC-seq." [PMID:30237449] synonym: "single nucleus methylcytosine sequencing v2" EXACT [] is_a: EFO:0002761 ! methylation profiling by high throughput sequencing is_a: EFO:0010183 ! single cell library construction property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030028 name: sci-RNA-seq3 def: "Single-cell combinatorial indexing (‘sci-’) is a methodological framework that employs split-pool barcoding to uniquely label the nucleic acid contents of large numbers of single cells or nuclei. The sci-RNA-seq3 is an updated version of sci-RNA-seq. The major improvements are: (1) nuclei are extracted directly from fresh tissues without enzymatic treatment; (2) hairpin ligation for the third level indexing (barcoded Tn5 tagmentation was used in the previous version); (3) individually optimised enzymatic reactions; (4) FACS was replaced by dilution, and sonication and filtration steps were added to minimize aggregation." [DOI:10.17504/protocols.io.9yih7ue] subset: http://www.ebi.ac.uk/efo/added_for_HCA synonym: "Sci-RNA-Seq3" EXACT [] synonym: "sci-RNA-Seq3" EXACT [] is_a: EFO:0010550 ! sci-RNA-seq property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030029 name: NanoString digital spatial profiling def: "A spatial transcriptomics by high-throughput sequencing assay which enables spatial analysis of RNA and protein in tissue specimens on slides." [http://www.orcid.org/0000-0002-2443-7325, PMID:33915569] subset: http://www.ebi.ac.uk/efo/added_for_HCA synonym: "digital spatial profiling" BROAD [] synonym: "NanoString digital spatial profiling (DSP)" EXACT [] is_a: EFO:0030005 ! spatial transcriptomics by high-throughput sequencing is_a: OBI:0000711 ! library preparation property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030030 name: Quant-seq def: "QuantSeq provides an easy protocol to generate highly strand-specific next-generation sequencing (NGS) libraries close to the 3′ end of polyadenylated RNAs within 4.5 h." [https://doi.org/10.1038/nmeth.f.376] synonym: "quant-seq" EXACT [] synonym: "QuantSeq" EXACT [] synonym: "quantseq" EXACT [] is_a: EFO:0002770 ! transcription profiling by high throughput sequencing property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030031 name: SCOPE-chip def: "The SCOPE-chip captures single cells by partitioning them into hundreds of thousands of microwells on the chip following the Poisson distribution. Afterwards, an excess of Barcoding Beads is added to the microwells of the chip; the diameter of the beads versus that of the microwells ensuring that only one Barcoding Bead falls into each microwell. After cell lysis, Barcoding Beads, each with a unique cell label (Barcode), capture mRNA by binding to the poly (A) tail. Barcoding Beads are subsequently collected from the microwell chip, followed by reverse transcription of the mRNA captured by the Barcoding Beads into cDNA, and subsequent PCR amplification. The amplified cDNA is then fragmented and ligated with sequencing adapters. The end result is an NGS library that is compatible with Illumina sequencing instruments, that can also be run on Pacbio and MGI sequencing platforms with minor modifications." [http://orcid.org/0000-0002-3163-0115, PMID:34326696] subset: http://www.ebi.ac.uk/efo/added_for_HCA synonym: "GEXSCOPE" EXACT [] is_a: EFO:0010183 ! single cell library construction property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030032 name: B6.SJL-Slc6a3tm1.1(cre)Bkmn/J def: "DATIREScre knock-in mice have Cre recombinase expression directed to dopaminergic neurons, without disrupting endogenous dopamine transporter expression. These mice may be useful for studying gene function in dopaminergic neurons, such as drug addiction, Parkinson's disease and Attention Deficit-Hyperactivity Disorder (ADHD)." [http://orcid.org/0000-0002-7431-4139, https://www.jax.org/strain/006660, PMID:27716510] subset: http://www.ebi.ac.uk/efo/added_for_HCA is_a: NCBITaxon:10090 ! Mus musculus property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030033 name: gRNA-seq synonym: "Amplicon sequencing of gRNAs from CRISPR pooled genetic screens. gRNAs are integrated into the cell genome, so sequencing is done on genomic DNA." EXACT [http://orcid.org/0000-0001-9328-3852, PMID:24336571] synonym: "gRNA-Seq" EXACT [] synonym: "grna-Seq" EXACT [] synonym: "grna-seq" EXACT [] synonym: "gRNASeq" EXACT [] synonym: "grnaSeq" EXACT [] synonym: "sgRNA-seq" EXACT [] is_a: EFO:0001456 ! DNA assay is_a: EFO:0003747 ! amplicon sequencing property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030034 name: shRNA-seq def: "Amplicon sequencing of shRNAs from RNAi pooled genetic screens. shRNA constructs are integrated into the cell genome, so sequencing is done on genomic DNA." [http://orcid.org/0000-0001-9328-3852, PMID:23394947] synonym: "shRNA-Seq" EXACT [] synonym: "shrna-Seq" EXACT [] synonym: "shrna-seq" EXACT [] is_a: EFO:0001456 ! DNA assay is_a: EFO:0003747 ! amplicon sequencing property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030035 name: cancer cell line sample def: "A neoplastic sample derived from a cancer cell line." [http://orcid.org/0000-0003-1239-1689] synonym: "neoplastic cell line sample" BROAD [] synonym: "tumor cell line sample" NARROW [] is_a: EFO:0009656 ! neoplastic sample property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030036 name: bronchoscopic microsampling def: "A biopsy in which a device consisting of a wire with a polyester probe at the tip is used to collect bronchial epithelial lining fluid with bronchoscopy." [http://orcid.org/0000-0003-4554-9040, PMID:32246845] subset: http://www.ebi.ac.uk/efo/added_for_HCA synonym: "BMS" BROAD [] is_a: EFO:0009120 ! biopsy property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030037 name: T cell activation assay def: "An assay in which T cells are incubated with a culture media containing an activator agent (such as Dynabeads Human T-Activator CD3/CD28), mimicking the natural activation and expansion process." [http://orcid.org/0000-0002-2658-1136, PMID:32393363] subset: http://www.ebi.ac.uk/efo/added_for_HCA synonym: "T cell activation" RELATED [] synonym: "T lymphocyte activation" RELATED [] synonym: "T lymphocyte activation assay" EXACT [] synonym: "T-cell activation" RELATED [] synonym: "T-cell activation assay" EXACT [] is_a: OBI:0000070 ! assay property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030038 name: follow-up status def: "The status of a follow-up procedure. It is a common observation in e.g. clinical treatment trials." [http://orcid.org/0000-0002-9903-4248] comment: EFO:0030038 'follow up status' refers to an observed quality; EFO:0009642 'follow-up' refers to the medical procedure process of running follow-ups. synonym: "follow up status" EXACT [] synonym: "followup status" EXACT [] is_a: BFO:0000019 ! quality property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030039 name: no follow-up status def: "The absence of information on a follow-up status." [http://orcid.org/0000-0002-9903-4248] synonym: "no follow up status" EXACT [] synonym: "no followup status" EXACT [] is_a: EFO:0030038 ! follow-up status property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030040 name: recorded follow-up status def: "The presence of information on a follow-up status." [http://orcid.org/0000-0002-9903-4248] synonym: "recorded follow up status" EXACT [] synonym: "recorded followup status" EXACT [] is_a: EFO:0030038 ! follow-up status property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030041 name: alive (follow-up status) def: "A recorded follow-up status noting that a patient is alive." [http://orcid.org/0000-0002-9903-4248] synonym: "alive" RELATED [] is_a: EFO:0030040 ! recorded follow-up status property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030042 name: alive with disease def: "A recorded follow-up status noting that a patient is alive and still has the disease under study." [http://orcid.org/0000-0002-9903-4248] is_a: EFO:0030041 ! alive (follow-up status) property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030043 name: alive in partial remission def: "A recorded follow-up status noting that a patient is alive and that the disease is in partial remission." [http://orcid.org/0000-0002-9903-4248] is_a: EFO:0030042 ! alive with disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030044 name: alive with stable disease def: "A recorded follow-up status noting that a patient is alive and that the disease is stable." [http://orcid.org/0000-0002-9903-4248] is_a: EFO:0030042 ! alive with disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030045 name: alive with recurrent disease def: "A recorded follow-up status noting that a patient is alive and that the disease is recurrent." [http://orcid.org/0000-0002-9903-4248] is_a: EFO:0030042 ! alive with disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030046 name: alive with progressive disease def: "A recorded follow-up status noting that a patient is alive and that the disease is progressive." [http://orcid.org/0000-0002-9903-4248] is_a: EFO:0030042 ! alive with disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030047 name: alive with metastatic disease def: "A recorded follow-up status noting that a patient is alive and that the disease is metastatic." [http://orcid.org/0000-0002-9903-4248] is_a: EFO:0030042 ! alive with disease property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030048 name: alive in complete remission def: "A recorded follow-up status noting that a patient is alive and in complete remission from the condition under study." [http://orcid.org/0000-0002-9903-4248] is_a: EFO:0030041 ! alive (follow-up status) property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030049 name: dead (follow-up status) def: "A recorded follow-up status noting that a patient died." [http://orcid.org/0000-0002-9903-4248] synonym: "dead" RELATED [] is_a: EFO:0030040 ! recorded follow-up status property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030050 name: death from disease def: "A recorded follow-up status noting that a patient died from the same condition under study." [http://orcid.org/0000-0002-9903-4248] is_a: EFO:0030049 ! dead (follow-up status) property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030051 name: death from other causes def: "A recorded follow-up status noting that a patient died from other causes than the condition under study." [http://orcid.org/0000-0002-9903-4248] comment: EFO:0030051 'death from other causes' refers to an observation in a follow-up status; EFO:0009434 'death by undetermined cause' refers to a material property (a complication) and not necessarily recorded in a follow-up study. is_a: EFO:0030049 ! dead (follow-up status) property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030052 name: nuclear RNA def: "An RNA extract that is the output of an extraction process in which RNA molecules found in the nucleus, including mRNA precursors (pre-mRNA), are extracted." [http://orcid.org/0000-0002-7431-4139, OBI:0000862] subset: http://www.ebi.ac.uk/efo/added_for_HCA synonym: "nuclear RNA extract" EXACT [] is_a: CHEBI:33697 ! ribonucleic acid property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030053 name: pseudo-bulk aggregation of single-cell expression data def: "A processed matrix generation method that involves combining single-cell expression values from multiple cells in the same biological sample. Aggregation is typically performed by summation of count data for cells of the same (inferred) type. The aggregated expression profiles can then be used in the same manner as bulk RNA-seq data, especially in differential expression analyses." [http://orcid.org/0000-0002-3564-4813, PMID:28045081] synonym: "pseudo-bulk RNA-seq" BROAD [] is_a: EFO:0030023 ! processed matrix generation property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030054 name: label-free quantification def: "A proteomic profiling method that uses mass spectrometry to quantify the relative amount of each protein across multiple biological samples without the need for any prior sample labelling. The assay is run separately on each sample and involves digestion of the proteome into peptides, liquid chromatography with mass spectrometry, and then quantification via spectral counting (i.e., the number of matching spectra from MS/MS) or integration of the intensities of each peptide's peaks." [http://orcid.org/0000-0002-3564-4813, PMID:17668192] synonym: "label-free protein quantification" EXACT [] synonym: "LFQ" BROAD [] is_a: EFO:0002766 ! proteomic profiling by mass spectrometer property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030055 name: 16S metagenomic sequencing def: "An amplicon sequencing approach targeting the variable regions of the 16S ribosomal RNA gene. This is commonly used to quantify the abundance of different microbial taxa in an environmental sample, based on how frequently a taxa's specific rRNA sequence is observed in the sequencing data." [http://orcid.org/0000-0002-3564-4813, PMID:15489351] synonym: "16S-seq" EXACT [] is_a: EFO:0003747 ! amplicon sequencing property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030056 name: tandem mass spectrometry def: "A mass spectrometry assay that combines two mass spectrometers together to analyze complex biomolecules such as peptides. The first instrument separates ionized molecules by their mass-to-charge ratio and filters for ions at a particular ratio. Once isolated, these ions are fragmented into smaller ions that are analyzed with the second instrument. The mass-charge filter and fragment spectra are then compared to a reference database to identify the original molecule." [http://orcid.org/0000-0002-3564-4813, PMID:3462691] synonym: "MS/MS" BROAD [] synonym: "MS2" BROAD [] synonym: "tandem MS" BROAD [] is_a: EFO:0002774 ! assay by mass spectrometry property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030057 name: Luminex multi-analyte profiling def: "The Luminex technology is a bead-based assay for quantification of multiple analytes in a single sample. Beads are color-coded and coated with antibodies or oligonucleotide primers specific to different analytes. After incubation with the sample of interest, secondary antibodies/primers are added, and imaging of the beads can be used to quantify the abundance of each analyte." [http://orcid.org/0000-0002-3564-4813, PMID:12360572] synonym: "Luminex" BROAD [] is_a: EFO:0002773 ! assay by instrument property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030058 name: transcription profiling by NanoString def: "The NanoString nCounter gene expression system uses multiplexed probe hybridization to capture and count individual mRNA transcripts. Transcripts for each gene are targeted by a pair of gene-specific probes - a biotinylated capture probe to capture the transcript on a streptavidin-coated slide, and a reporter probe containing a color-coded pattern of fluorescent segments. Imaging of the slide can then identify each captured transcript." [http://orcid.org/0000-0002-2443-7325, PMID:18278033] synonym: "NanoString" BROAD [] synonym: "transcriptional profiling by NanoString" EXACT [] is_a: EFO:0001032 ! transcription profiling property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030059 name: 10x multiome def: "Simultaneous profiling of gene expression and open chromatin from the same cell." [http://orcid.org/0000-0002-1196-4871] synonym: "Chromium Single Cell Multiome ATAC + Gene Expression" EXACT [] is_a: EFO:0008913 ! single-cell RNA sequencing is_a: EFO:0008995 ! 10x technology is_a: EFO:0010891 ! scATAC-seq property_value: dc-creator "paola" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2021-12-13T15:33:28Z xsd:dateTime [Term] id: EFO:0030060 name: mCT-seq def: "A method that can jointly capture cytosine DNA methylome (5mC) and transcriptome profiles from single cells/nuclei by partitioning RNA and DNA molecules through the incorporation of 5’-methyl-dCTP instead of dCTP during reverse transcription of RNA." [http://orcid.org/0000-0002-1196-4871, https://www.biorxiv.org/content/10.1101/434845v1] synonym: "methylcytosine and transcriptome sequencing" EXACT [] is_a: EFO:0001456 ! DNA assay is_a: EFO:0008913 ! single-cell RNA sequencing is_a: EFO:0010183 ! single cell library construction property_value: dc-creator "paola" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2021-12-13T15:37:28Z xsd:dateTime [Term] id: EFO:0030061 name: mcSCRB-seq def: "A single-cell RNA barcoding and sequencing protocol with increased sensitivity through the addition of polyethylene glycol (PEG 8000). PEG 8000 increases the cDNA yield by reducing the effective reaction volume." [http://orcid.org/0000-0002-1196-4871, PMID:30050112] synonym: "molecular crowding single-cell RNA barcoding and sequencing" EXACT [] is_a: EFO:0010004 ! SCRB-seq property_value: dc-creator "paola" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2021-12-13T15:39:50Z xsd:dateTime [Term] id: EFO:0030062 name: Slide-seqV2 def: "More sensitive version of the Slide-seq method for transferring RNA from tissue sections onto a surface covered in DNA-barcoded beads with known positions, which differs from Slide-seq in the use of a monobase encoding scheme with sequencing by ligation using sequential interrogation by offset primer, and improved parameters for split-pool synthesis of barcoded beads." [http://orcid.org/0000-0001-8134-3037, https://www.biorxiv.org/content/10.1101/2020.03.12.989806v1] is_a: EFO:0010183 ! single cell library construction is_a: EFO:0030005 ! spatial transcriptomics by high-throughput sequencing property_value: dc-creator "paola" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2021-12-16T08:53:05Z xsd:dateTime [Term] id: EFO:0030063 name: copy number assessment def: "Result of genomic copy number assessment of a genomic element or region." [http://orcid.org/0000-0002-9903-4248] comment: Assessment of the copy number of a genomic feature or region, referenced to the expected allele count in a given sample. Examples of an expected count would be: a) autosomal chromosome in human germline: 2; b) X-chromosome in human male: 1; c) triploid cancer cell line: 3, i.e. a region with 2 alleles in a triploid cell line would correspond to a low-level copy number loss. synonym: "copy number variation analysis" EXACT [] synonym: "genomic copy number assessment" EXACT [] is_a: IAO:0000030 ! information entity property_value: dc-creator "paola" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-01-14T11:04:56Z xsd:dateTime [Term] id: EFO:0030064 name: regional base ploidy def: "Copy number assessment of regional base ploidy." [http://orcid.org/0000-0002-9903-4248] is_a: EFO:0030063 ! copy number assessment property_value: dc-creator "paola" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-01-14T11:10:12Z xsd:dateTime [Term] id: EFO:0030065 name: copy-neutral loss of heterozygosity def: "Assessment of copy-neutral loss of heterozygosity." [http://orcid.org/0000-0002-9903-4248] is_a: EFO:0030064 ! regional base ploidy property_value: dc-creator "paola" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-01-14T11:10:59Z xsd:dateTime [Term] id: EFO:0030066 name: relative copy number variation def: "Assessment of relative copy number variation." [http://orcid.org/0000-0002-9903-4248] synonym: "copy number variation" RELATED [] synonym: "genomic copy number variation" RELATED [] synonym: "observed copy number variation" EXACT [] is_a: EFO:0030063 ! copy number assessment property_value: dc-creator "paola" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-01-14T11:24:49Z xsd:dateTime [Term] id: EFO:0030067 name: copy number loss def: "Assessment of genomic copy number loss." [http://orcid.org/0000-0002-9903-4248] is_a: EFO:0030066 ! relative copy number variation property_value: dc-creator "paola" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-01-14T11:25:28Z xsd:dateTime [Term] id: EFO:0030068 name: low-level copy number loss def: "Assessment of low-level genomic copy number loss." [http://orcid.org/0000-0002-9903-4248] is_a: EFO:0030067 ! copy number loss property_value: dc-creator "paola" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-01-14T11:25:45Z xsd:dateTime [Term] id: EFO:0030069 name: complete genomic deletion def: "Assessment of complete genomic deletion." [http://orcid.org/0000-0002-9903-4248] synonym: "homozygous deletion" EXACT [] is_a: EFO:0020073 ! high-level copy number loss property_value: dc-creator "paola" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-01-14T11:26:00Z xsd:dateTime [Term] id: EFO:0030070 name: copy number gain def: "Assessment of genomic copy number gain." [http://orcid.org/0000-0002-9903-4248] is_a: EFO:0030066 ! relative copy number variation property_value: dc-creator "paola" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-01-14T11:26:27Z xsd:dateTime [Term] id: EFO:0030071 name: low-level copy number gain def: "Assessment of low-level genomic copy number gain." [http://orcid.org/0000-0002-9903-4248] is_a: EFO:0030070 ! copy number gain property_value: dc-creator "paola" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-01-14T11:26:45Z xsd:dateTime [Term] id: EFO:0030072 name: high-level copy number gain def: "Assessment of high-level genomic copy number gain." [http://orcid.org/0000-0002-9903-4248] comment: Commonly but not consistently used for >=5 copies on a bi-allelic genome region. is_a: EFO:0030070 ! copy number gain property_value: dc-creator "paola" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-01-14T11:27:07Z xsd:dateTime [Term] id: EFO:0030073 name: focal genome amplification def: "Assessment of focal genome amplification." [http://orcid.org/0000-0002-9903-4248] comment: Commonly used for localized multi-copy genome amplification events where the region does not extend >3Mb (varying 1-5Mb) and may exist in a large number of copies. is_a: EFO:0030072 ! high-level copy number gain property_value: dc-creator "paola" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-01-14T11:28:10Z xsd:dateTime [Term] id: EFO:0030074 name: SORT-seq def: "A partially robotized version of the CEL-seq2 protocol that uses FACS to sort single cells into the wells of a 384-well cell-capture plate. Each well in the plate contains barcoded primers and other reagents. This sorting step makes it possible to analyze live single cells, or any other particular population of interest." [http://orcid.org/0000-0003-4554-9040, PMID:27693023] subset: http://www.ebi.ac.uk/efo/added_for_HCA synonym: "Sort-seq" EXACT [] synonym: "sorting and robot-assisted transcriptome sequencing" EXACT [] is_a: EFO:0010010 ! CEL-seq2 property_value: dc-creator "paola" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-02-10T10:54:11Z xsd:dateTime [Term] id: EFO:0030075 name: cDNA microarray def: "A DNA array that contains probes (usually many thousands of them) generated from the reverse transcription of messenger RNA and propagated in bacterial vectors. While the main application of cDNA microarrays is in the generation of transcriptomic profiles, they also can be used for genomic analyses such as copy number profiling experiments." [http://orcid.org/0000-0002-9903-4248] synonym: "complementary DNA microarray" EXACT [] synonym: "spotted cDNA array" EXACT [] is_a: EFO:0002701 ! DNA array property_value: dc-creator "paola" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-02-10T10:57:59Z xsd:dateTime [Term] id: EFO:0030076 name: methylation-specific microarray def: "An oligonucleotide DNA microarray that employs specifically designed oligonucleotides to probe the methylation status of e.g. CpG and CpHpG sites. It may also be applied to derive additional information such as genomic copy number variations." [http://orcid.org/0000-0002-9903-4248] synonym: "methylation array" EXACT [] is_a: EFO:0010939 ! oligonucleotide DNA microarray property_value: dc-creator "paola" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-02-10T11:01:46Z xsd:dateTime [Term] id: EFO:0030077 name: cell hashing def: "A single cell library construction process that involves labelling cells with sample-specific oligonucleotides, typically through antibody- or lipid-based reagents, such that cells from distinct samples can be pooled together for single-cell sequencing. This multiplexed approach increases throughput, eliminates batch effects, and enables detection of multiplets." [https://orcid.org/0000-0002-3564-4813, PMID:30567574] synonym: "CellPlex" NARROW [] is_a: EFO:0010183 ! single cell library construction property_value: dc-creator "paolaroncaglia" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-03-08T13:47:11Z xsd:dateTime [Term] id: EFO:0030078 name: droplet-based single-cell RNA library preparation def: "A single-cell RNA library construction method that is droplet-based." [http://orcid.org/0000-0002-2443-7325, PMID:32518403] subset: http://www.ebi.ac.uk/efo/added_for_HCA is_a: EFO:0010183 ! single cell library construction property_value: dc-creator "paola" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-04-07T09:17:15Z xsd:dateTime [Term] id: EFO:0030079 name: paracentesis def: "A specimen-collecting procedure in which a needle or catheter is inserted into the peritoneal cavity to obtain ascitic fluid for diagnostic or therapeutic purposes. Ascitic fluid may be used to help determine the etiology of ascites, as well as to evaluate for infection or presence of cancer." [http://orcid.org/0000-0002-2443-7325, PMID:32405060, Wikipedia:Paracentesis] synonym: "abdominal paracentesis" EXACT [] synonym: "laparocentesis" EXACT [] synonym: "peritoneocentesis" EXACT [] is_a: OBI:0600005 ! collecting specimen from organism property_value: dc-creator "paola" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2022-04-11T16:08:45Z xsd:dateTime [Term] id: EFO:0030080 name: 10x transcription profiling def: "The 10x-based single-cell technology that sequences mRNA molecules." [http://orcid.org/0000-0002-3564-4813] comment: This term should only be used when a single-cell RNA-seq dataset is known to be generated using 10x, but the specific protocol (5' vs. 3') isn't specified. Whenever that information is available, please use EFO:0030003 '10x 3' transcription profiling' or EFO:0030004 '10x 5' transcription profiling'. is_a: EFO:0008995 ! 10x technology property_value: dc-creator "paola" xsd:string property_value: seeAlso https://github.com/EBISPOT/efo/issues/1558 xsd:string [Term] id: EFO:0030081 name: HLA typing by NGS def: "A method for identification of HLA antigen polymorphisms using a high-throughput sequencing platform." [http://orcid.org/0000-0002-7059-6378] synonym: "HLA typing using Next Generation Sequencing" EXACT [] synonym: "HLA typing using NGS" EXACT [] is_a: EFO:0002771 ! genotyping by high throughput sequencing property_value: dc-creator "paola" xsd:string [Term] id: EFO:0030082 name: polygenic risk score def: "An estimate of an individual’s genetic risk for some traits, obtained by aggregating and quantifying the effect of many common variants in the genome (usually defined as minor allele frequency ≥1%), each of which can have a small effect on a person’s genetic risk for a given disease or condition." [http://orcid.org/0000-0002-7059-6378] synonym: "genetic risk score" BROAD [] synonym: "polygenic score" BROAD [] synonym: "PRS" BROAD [] is_a: EFO:0001444 ! measurement property_value: dc-creator "paola" xsd:string property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0030083 name: clinical data def: "A data set containing clinical information." [http://orcid.org/0000-0002-7059-6378] is_a: IAO:0000100 ! data set property_value: dc-creator "paola" xsd:string property_value: seeAlso https://github.com/EBISPOT/efo/issues/1551 xsd:string [Term] id: EFO:0600000 name: sortilin measurement def: "Quantification of the amount of sortilin in a sample." [] xref: PMID:33937362 is_a: EFO:0004555 ! glycoprotein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0600001 name: ghrelin measurement def: "Quantification of the amount of ghrelin present in a sample." [] xref: NCIT:C112286 xref: PMID:33852427 is_a: EFO:0004730 ! hormone measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0600002 name: retinal layer thickness measurement def: "A measure of the thickness of one or more layers of the retina. It is measured with various imaging tools including ultrasound, optical coherence tomography (OCT), confocal microscopy, and biometry. Reduced retinal layer thickness is one of the biomarkers used for the diagnosis of glaucoma." [] xref: PMID:33979322 is_a: EFO:0004731 ! eye measurement relationship: IAO:0000136 MONDO:0005041 ! is_about glaucoma relationship: IAO:0000136 UBERON:0000966 ! is_about retina property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0600003 name: vitamin C measurement def: "Quantification of vitamin C levels in a sample." [] xref: NCIt:C74903 xref: PMID:33203707 is_a: EFO:0004729 ! vitamin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600004 name: retinal nerve fibre layer thickness measurement def: "A measure of the thickness of the retinal nerve fiber layer (RNFL). It is typically measured using optical imaging methods such as optical coherence tomography (OCT). The thickness of the ganglion cell complex (GCC), the collective name for the retinal nerve fibre layer and the ganglion cell inner plexiform layer, is one of the biomarkers used in the diagnosis of primary open angle glaucoma (POAG)." [] synonym: "peripapillary retinal nerve fiber layer thickness measurement" EXACT [] synonym: "RNFL thickness measurement" EXACT [] xref: PMID:33979322 is_a: EFO:0600002 ! retinal layer thickness measurement relationship: IAO:0000136 MONDO:0005041 ! is_about glaucoma relationship: IAO:0000136 UBERON:0000966 ! is_about retina property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0600005 name: ganglion cell inner plexiform layer thickness measurement def: "A measure of the thickness of the ganglion cell inner plexiform layer (GCIPL). It is typically measured using optical imaging methods such as optical coherence tomography (OCT). The thickness of the ganglion cell complex (GCC), the collective name for the retinal nerve fibre layer and the ganglion cell inner plexiform layer, is one of the biomarkers used in the diagnosis of primary open angle glaucoma (POAG)." [] synonym: "GCIPL thickness measurement" EXACT [] xref: PMID:33979322 is_a: EFO:0600002 ! retinal layer thickness measurement relationship: IAO:0000136 MONDO:0005041 ! is_about glaucoma relationship: IAO:0000136 UBERON:0000966 ! is_about retina property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0600006 name: human herpesvirus 7 seropositivity def: "human herpesvirus 7 seropositivity is the result of a measurement of circulating human herpesvirus 7 specific antibodies" [] xref: PMID:33204752 is_a: EFO:0007034 ! seropositivity measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Harris" xsd:string [Term] id: EFO:0600007 name: fish oil supplement exposure measurement def: "Quantification of some aspect of an individual's exposure to fish oil supplementation." [] xref: PMID:33760818 is_a: EFO:0600066 ! nutritional supplement exposure measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600008 name: mitochondrial heteroplasmy measurement def: "A quantification of the degree of mitochondrial heteroplasmy, i.e. the presence of different mitochondrial DNA variants in different mitochondria within the same individual organism or cell. Heteroplasmy can be inherited through the maternal germ line, or arise through somatic mitochondrial mutations within an individual." [] xref: PMID:33731350 is_a: EFO:0006312 ! mitochondrial DNA measurement relationship: IAO:0000136 EFO:0008480 ! is_about mitochondrial DNA relationship: IAO:0000136 GO:0005739 ! is_about mitochondrion property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elliot Sollis" xsd:string [Term] id: EFO:0600009 name: cardiac ablation def: "Cardiac or catheter ablation is a minimally invasive procedure used to remove or terminate a faulty electrical pathway from sections of the hearts of those who are prone to developing cardiac arrhythmias such as atrial fibrillation, atrial flutter, SVT and Wolff-Parkinson-White syndrome." [] synonym: "catheter ablation" EXACT [] xref: NCIt:C100068 xref: PMID:32409696 is_a: EFO:0002571 ! medical procedure relationship: IAO:0000136 EFO:0004269 ! is_about cardiac arrhythmia relationship: IAO:0000136 UBERON:0000948 ! is_about heart property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0600010 name: emodin glucuronidation measurement def: "Quantification of emodin metabolisation via the glucuronidation pathway." [] xref: PMID:32538071 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 EFO:0011052 ! is_about hepatotoxicity property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0600011 name: Parkinson's disease symptom measurement def: "Quantification of some aspect of Parkinson's disease symptoms such as their frequency, severity or ratio." [] xref: PMID:33987465 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600012 name: S100 calcium-binding protein B measurement def: "The quantification of S100 calcium-binding protein B in a sample." [] synonym: "S100B measurement" EXACT [] xref: NCIT:C127635 xref: PMID:33227023 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0600013 name: response to ropeginterferon alfa-2b def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of any ropeginterferon alfa-2b stimulus. Ropeginterferon alfa-2b is a medication used to treat polycythemia vera." [] xref: PMID:32814349 is_a: EFO:0007859 ! response to interferon relationship: IAO:0000136 EFO:0002429 ! is_about polycythemia vera relationship: IAO:0000136 EFO:0600014 ! is_about ropeginterferon alfa-2b property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0600014 name: ropeginterferon alfa-2b def: "A long-acting formulation of recombinant interferon alpha subtype 2b (IFN-a2b), in which IFN-a2b is coupled, via proline, to polyethylene glycol (PEG), with antiviral, immunomodulating and antineoplastic activities. Upon administration of ropeginterferon alfa-2b, IFN-a2b targets and binds to specific IFN cell-surface receptors. This activates IFN-mediated signal transduction pathways and induces the transcription and translation of genes with IFN-specific response elements (ISREs). Their protein products mediate antiviral, antiproliferative, anticancer, and immune-modulating effects. The PEG moiety inhibits proteolytic breakdown and clearance of IFN-a2b, which prolongs its half-life, extends the duration of its therapeutic effects and allows less frequent dosing. The proline linker facilitates the synthesis of a single positional isomer which further increases its stability and half-life." [] xref: NCIt:C111892 is_a: CHEBI:24431 ! chemical entity relationship: has_role CHEBI:35610 ! antineoplastic agent [Term] id: EFO:0600015 name: noise exposure measurement def: "Quantification of some aspect of noise exposure, such as occupational levels." [] xref: PMID:33242228 is_a: EFO:0008360 ! environmental exposure measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600016 name: plasma beta-amyloid 1-40:1-42 ratio measurement def: "Quantification of the ratio of beta-amyloid 1-40 to 1-42 proteins in a sample of blood plasma." [] xref: PMID:34002480 is_a: EFO:0006514 ! Alzheimer's disease biomarker measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0600017 name: response to dolutegravir def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) in response to the anti-retroviral drug dolutegravir, typically used in the treatment of HIV infection." [] xref: PMID:33625064 is_a: GO:0061479 ! response to reverse transcriptase inhibitor property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0600018 name: trabecular bone score def: "The trabecular bone score (TBS) is an analytical tool used to measure grey-level textures on lumbar spine (LS) dual X-ray absorptiometry (DXA) images. It is a measure of bone texture correlated with bone microarchitecture and is associated with the incidence of new fracture." [] xref: PMID:33232597 is_a: EFO:0004516 ! bone fracture related measurement relationship: IAO:0000136 EFO:0003931 ! is_about bone fracture relationship: IAO:0000136 UBERON:0001474 ! is_about bone element property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0600019 name: COVID-19 symptoms measurement def: "Quantification of some aspect of COVID-19 symptoms, such as severity or time to remission." [] xref: PMID:34035401 is_a: EFO:0006843 ! infectious disease biomarker relationship: IAO:0000136 MONDO:0100096 ! is_about COVID-19 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600020 name: time to remission of COVID-19 symptoms def: "Quantification of time to remission of COVID-19 symptoms." [] xref: PMID:34035401 is_a: EFO:0600019 ! COVID-19 symptoms measurement relationship: IAO:0000136 EFO:0009785 ! is_about remission property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600021 name: response to dietary selenium supplementation def: "Physiological response of an organism to being given selenium as a dietary supplement." [] xref: PMID:33382417 is_a: EFO:0010757 ! response to diet relationship: IAO:0000136 CHEBI:27568 ! is_about selenium atom property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600022 name: response to gamma-aminobutyric acid receptor agonists def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a gamma-aminobutyric acid receptor agonist." [] synonym: "response to GABA receptor agonists" EXACT [] xref: PMID:33685280 is_a: GO:0009410 ! response to xenobiotic stimulus relationship: IAO:0000136 CHEBI:16865 ! is_about gamma-aminobutyric acid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600023 name: response to immune checkpoint inhibitor def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of immune checkpoint inhibitor stimulus such as Ipilimumab and Anti-PD-1/PD-L1 agents." [] synonym: "response to ICI" EXACT [] xref: PMID:33409738 is_a: GO:0097327 ! response to antineoplastic agent relationship: IAO:0000136 EFO:0009658 ! is_about adverse effect property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600024 name: response to tofacitinib def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus with tofacitinib." [] xref: PMID:33455090 is_a: GO:0009410 ! response to xenobiotic stimulus relationship: IAO:0000136 EFO:0000685 ! is_about rheumatoid arthritis relationship: IAO:0000136 EFO:0000729 ! is_about ulcerative colitis relationship: IAO:0000136 EFO:0003778 ! is_about psoriatic arthritis relationship: IAO:0000136 EFO:0006510 ! is_about Herpes Zoster property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600025 name: aortic vascular smooth muscle cell calcification measurement def: "Quantification of the calcification of vascular smooth muscle cells derived from the aorta." [] synonym: "aortic VSMC calcification measurement" EXACT [] xref: PMID:33040646 is_a: EFO:0020865 ! aortic measurement relationship: IAO:0000136 BTO:0004578 ! is_about vascular smooth muscle cell relationship: IAO:0000136 UBERON:0000947 ! is_about aorta property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0600026 name: aortic vascular smooth muscle cell proliferation measurement def: "Quantification of the multiplication or reproduction of vascular smooth muscle cells derived from the aorta." [] synonym: "aortic VSMC proliferation measurement" EXACT [] xref: PMID:33040646 is_a: EFO:0020865 ! aortic measurement relationship: IAO:0000136 BTO:0004578 ! is_about vascular smooth muscle cell relationship: IAO:0000136 UBERON:0000947 ! is_about aorta property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0600027 name: hemoglobin change measurement def: "Quantification of the change in hemoglobin levels in an individual over time, eg over the course of several years after regular blood donation." [] xref: PMID:33491795 is_a: EFO:0004509 ! hemoglobin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600028 name: N-acylethanolamine measurement def: "Quantification of the levels of N-acylethanolamine in a sample." [] xref: PMID:33437986 is_a: EFO:0004529 ! lipid measurement relationship: IAO:0000136 CHEBI:52640 ! is_about N-acylethanolamine property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600030 name: response to antiparasitic agent def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antiparasitic agent." [] xref: PMID:33669428 is_a: GO:0009410 ! response to xenobiotic stimulus relationship: IAO:0000136 EFO:0001067 ! is_about parasitic infection property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600031 name: response to benznidazole def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of benznidazole (BZN) stimulus. BZN is the main drug with activity against Trypanosoma cruzi, a parasite that causes Chagas disease also referred to as American trypanosomiasis." [] synonym: "response to BZN" EXACT [] xref: PMID:33669428 is_a: EFO:0600030 ! response to antiparasitic agent relationship: IAO:0000136 EFO:0001067 ! is_about parasitic infection relationship: IAO:0000136 MONDO:0001444 ! is_about Chagas disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600032 name: congenital right-sided heart lesions def: "Serious heritable structural anomalies of the right side of the heart, including pulmonary atresia, tricuspid valve disease and Ebstein's anomaly, and right ventricular outflow tract obstruction and/or pulmonary stenosis, that are present from birth." [] xref: PMID:33201861 is_a: EFO:0005269 ! congenital heart malformation relationship: IAO:0000136 UBERON:0000948 ! is_about heart property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600033 name: response to mitochondrial complex I inhibitor def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a mitochondrial complex I inhibitor (MCI) stimulus. MCI is a small molecule druggable target with downstream signalling that engages multiple neuroprotective mechanisms alleviating cognitive decline and neurodegeneration." [] xref: PMID:33610756 is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0600034 name: response to neuromuscular blocker def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a neuromuscular blocker." [] xref: PMID:33676726 is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600035 name: left atrial volume measurement def: "Quantification of the volume of or amount contained in the left upper chamber of the heart." [] synonym: "heart left atrium capacity" EXACT [] xref: PMID:34338756 xref: VT:0004063 is_a: EFO:0004298 ! cardiovascular measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600036 name: muscle fiber cross-sectional area measurement def: "Quantification of a muscle fiber cross-sectional area by muscle biopsy. It is a microscopic measure of muscle fiber size and structure to assess skeletal muscle hypertrophy typically in the context of resistance training." [] synonym: "muscle fCSA" EXACT [] xref: PMID:33891350 is_a: EFO:0004515 ! muscle measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0600037 name: resistance training def: "Physical exercise that uses weight, or other forms of resistance, to induce muscle contraction and build strength, anaerobic endurance, and size of skeletal muscles. Typical exercises include leg and chest press, knee extension, leg curl, row, abdominal crunch, and bicep curl." [] xref: NCIT:C154219 xref: PMID:33891350 is_a: EFO:0003940 ! physical activity property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0600038 name: plasma clozapine measurement def: "Quantification of the levels of clozapine in blood plasma. Clozapine is an antipsychotic drug used to treat schizophrenia." [] xref: PMID:30922102 is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 CHEBI:3766 ! is_about clozapine relationship: IAO:0000136 MONDO:0005090 ! is_about schizophrenia property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600039 name: plasma N-desmethylclozapine measurement def: "Quantification of the levels of N-desmethylclozapine, also known as norclozapine, in blood plasma. N-desmethylclozapine is a major active metabolite of clozapine, an antipsychotic drug used to treat schizophrenia." [] synonym: "plasma norclozapine measurement" EXACT [] xref: PMID:30922102 is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 CHEBI:25212 ! is_about metabolite relationship: IAO:0000136 CHEBI:64050 ! is_about N-desmethylclozapine relationship: IAO:0000136 MONDO:0005090 ! is_about schizophrenia property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600040 name: plasma clozapine-to-N-desmethylclozapine ratio measurement def: "Quantification of the ratio of clozapine to-N-desmethylclozapine, also known as norclozapine, in blood plasma. Clozapine is an antipsychotic drug used to treat schizophrenia and N-desmethylclozapine is a a major active metabolite of clozapine." [] synonym: "plasma clozapine-to-norclozapine ratio measurement" EXACT [] xref: PMID:30922102 is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 CHEBI:25212 ! is_about metabolite relationship: IAO:0000136 CHEBI:3766 ! is_about clozapine relationship: IAO:0000136 CHEBI:64050 ! is_about N-desmethylclozapine relationship: IAO:0000136 MONDO:0005090 ! is_about schizophrenia property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600041 name: serum clozapine measurement def: "Quantification of the levels of clozapine in blood serum. Clozapine is an antipsychotic drug used to treat schizophrenia." [] xref: PMID:32555152 is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 CHEBI:3766 ! is_about clozapine relationship: IAO:0000136 MONDO:0005090 ! is_about schizophrenia property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600042 name: serum clozapine-to-N-desmethylclozapine ratio measurement def: "Quantification of the ratio of clozapine to-N-desmethylclozapine, also known as norclozapine, in blood serum. Clozapine is an antipsychotic drug used to treat schizophrenia and N-desmethylclozapine is a a major active metabolite of clozapine." [] synonym: "serum clozapine-to-norclozapine ratio measurement" EXACT [] xref: PMID:32555152 is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 CHEBI:25212 ! is_about metabolite relationship: IAO:0000136 CHEBI:3766 ! is_about clozapine relationship: IAO:0000136 CHEBI:64050 ! is_about N-desmethylclozapine relationship: IAO:0000136 MONDO:0005090 ! is_about schizophrenia property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0600043 name: serum N-desmethylclozapine measurement def: "Quantification of the levels of N-desmethylclozapine, also known as norclozapine, in blood serum. N-desmethylclozapine is a a major active metabolite of clozapine, an antipsychotic drug used to treat schizophrenia." [] synonym: "serum norclozapine measurement" EXACT [] xref: PMID:32555152 is_a: EFO:0006848 ! mental or behavioural disorder biomarker relationship: IAO:0000136 CHEBI:25212 ! is_about metabolite relationship: IAO:0000136 CHEBI:64050 ! is_about N-desmethylclozapine relationship: IAO:0000136 MONDO:0005090 ! is_about schizophrenia property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600044 name: kidney volume def: "Quantification of the volume of the kidney." [] xref: PMID:34128465 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 UBERON:0002113 ! is_about kidney property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600045 name: pancreas volume def: "Quantification of the volume of the pancreas." [] xref: PMID:34128465 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 UBERON:0001264 ! is_about pancreas property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600046 name: lung volume def: "Quantification of the volume of the lung." [] xref: PMID:34128465 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 UBERON:0002048 ! is_about lung property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600047 name: spleen volume def: "Quantification of the volume of the spleen." [] xref: PMID:34128465 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600048 name: liver volume def: "Quantification of the volume of the liver." [] xref: PMID:34128465 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 UBERON:0002107 ! is_about liver property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600049 name: pancreas fat measurement def: "Quantification of the fat content of the pancreas." [] xref: PMID:34128465 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 UBERON:0001264 ! is_about pancreas property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600050 name: plasma leucine rich alpha-2-glycoprotein 1 measurement def: "Quantification of the levels of leucine rich alpha-2-glycoprotein 1 present in a sample." [] synonym: "plasma LRG1 measurement" EXACT [] xref: NCIT:C165973 xref: PMID:33889958 is_a: EFO:0004872 ! inflammatory biomarker measurement is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600051 name: response to smoking cessation agent def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a smoking cessation agent. These include nicotine replacement therapy (NRT) agents that are available as nicotine patches, gums, lozenges or inhalers and nicotinic receptor antagonists such as varenicline and buproprion." [] xref: PMID:33713409 is_a: GO:0009410 ! response to xenobiotic stimulus relationship: IAO:0000136 EFO:0004319 ! is_about smoking cessation property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600052 name: response to varenicline def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of varenicline, a nicotinic acetylcholine receptor agonist used as a smoking cessation agent. Varenicline is also used for the treatment of dry eye disease." [] xref: PMID:33713409 is_a: EFO:0600051 ! response to smoking cessation agent property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600053 name: complement factor H-related proteins measurement def: "Quantification of the amount of complement factor H-related proteins in a sample." [] synonym: "FHR proteins measurement" EXACT [] xref: PMID:34260947 is_a: EFO:0007937 ! blood protein measurement property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0600054 name: complement factor H-related protein 1 measurement def: "Quantification of the amount of complement factor H-related protein 1 in a sample." [] synonym: "FHR-1 protein measurement" EXACT [] xref: PMID:34260947 is_a: EFO:0600053 ! complement factor H-related proteins measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0600055 name: complement factor H-related protein 2 measurement def: "Quantification of the amount of complement factor H-related protein 2 in a sample." [] synonym: "FHR-2 protein measurement" EXACT [] xref: PMID:34260947 is_a: EFO:0600053 ! complement factor H-related proteins measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0600056 name: complement factor H-related protein 3 measurement def: "Quantification of the amount of complement factor H-related protein 3 in a sample." [] synonym: "FHR-3 protein measurement" EXACT [] xref: PMID:34260947 is_a: EFO:0600053 ! complement factor H-related proteins measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0600057 name: complement factor H-related protein 4A measurement def: "Quantification of the amount of complement factor H-related protein 4A in a sample." [] synonym: "FHR-4A protein measurement" EXACT [] xref: PMID:34260947 is_a: EFO:0600053 ! complement factor H-related proteins measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:0600058 name: blood group def: "Any of the various types of human blood whose antigen characteristics determine compatibility in transfusion. While the ABO and Rhesus sytems are the most well known, there are in total about 300 different blood type antigens distributed across 34 different blood type systems." [] xref: HP:0032223 xref: PMID:26085552 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 UBERON:0000178 ! is_about blood [Term] id: EFO:0600059 name: ABO blood group def: "The ABO system consists of A and B antigens and antibodies against these antigens." [] xref: HP:0032223 xref: PMID:34202464 is_a: EFO:0600058 ! blood group property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0600060 name: blood group A def: "ABO phenotype A, corresponding to the genotype AO or AA." [] xref: HP:0032370 xref: PMID:34202464 is_a: EFO:0600059 ! ABO blood group property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0600061 name: blood group B def: "ABO phenotype B, corresponding to the genotype BO or BB." [] xref: HP:0032440 xref: PMID:34202464 is_a: EFO:0600059 ! ABO blood group property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0600062 name: blood group AB def: "ABO phenotype AB, corresponding to the genotype AB." [] xref: HP:0032441 xref: PMID:34202464 is_a: EFO:0600059 ! ABO blood group property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0600063 name: blood group O def: "ABO phenotype O, corresponding to the genotype OO." [] xref: HP:0032442 xref: PMID:34202464 is_a: EFO:0600059 ! ABO blood group property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0600064 name: serum lipopolysaccharide activity def: "Quantification of lipopolysaccharide activity in serum." [] synonym: "endotoxemia" EXACT [] xref: PMID:34668383 is_a: MONDO:0021678 ! gram-negative bacterial infections property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600065 name: response to tolvaptan def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with tolvaptan, an aquaretic drug that functions as a selective, competitive vasopressin receptor 2 (V2) antagonist." [] xref: PMID:34309184 is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0600066 name: nutritional supplement exposure measurement def: "Quantification of some aspect of the consumption of dietary nutritional supplements." [] xref: PMID:34025683 is_a: EFO:0008360 ! environmental exposure measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600067 name: mastiha supplement exposure measurement def: "Quantification of some aspect of the consumption of mastiha, a natural nutritional supplement known to possess antioxidant and anti-inflammatory properties." [] xref: PMID:34025683 is_a: EFO:0600066 ! nutritional supplement exposure measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600068 name: gene expression measurement def: "Quantification of the expression of a gene in a cell, tissue or sample." [] is_a: EFO:0001444 ! measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600069 name: tumor necrosis factor alpha gene expression measurement def: "Quantification of the expression of the TNFA gene, which encodes tumor necrosis factor-alpha." [] synonym: "DIF gene expression measurement" EXACT [] synonym: "TNF gene expression measurement" EXACT [] synonym: "TNF superfamily, member 2 gene expression measurement" EXACT [] synonym: "TNF-α gene expression measurement" EXACT [] synonym: "TNFA gene expression measurement" EXACT [] synonym: "TNFSF2 gene expression measurement" EXACT [] synonym: "tumor necrosis factor gene expression measurement" EXACT [] xref: PMID:34025683 is_a: EFO:0600068 ! gene expression measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600070 name: interleukin-6 gene expression measurement def: "Quantification of the expression of IL-6 gene, encoding interleukin-6." [] synonym: "IL-6 gene expression measurement" EXACT [] synonym: "IL6 gene expression measurement" EXACT [] synonym: "interleukin 6 gene expression measurement" EXACT [] xref: PMID:34025683 is_a: EFO:0600068 ! gene expression measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600071 name: blood glutathione peroxidase measurement def: "Quantification of glutathione peroxidase in a sample." [] synonym: "blood Gpx measurement" EXACT [] xref: PMID:34025683 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0600072 name: human polyomavirus 6 seropositivity def: "The result of a measurement of circulating human polyomavirus 6-specific antibodies." [] xref: PMID:34532061 is_a: EFO:0007034 ! seropositivity measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600073 name: anti-WU polyomavirus antibody measurement def: "Quantification of one or more antibodies to the WU polyomavirus, typically in serum." [] xref: PMID:34532061 is_a: EFO:0004556 ! antibody measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600074 name: anti-human polyomavirus 6 antibody measurement def: "Quantification of one or more antibodies to the human polyomavirus 6, typically in serum." [] xref: PMID:34532061 is_a: EFO:0004556 ! antibody measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600075 name: response to stimulant therapy def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulant such as used in the treatment of ADHD." [] synonym: "response to stimulant ADHD agent therapy" EXACT [] xref: PMID:34154395 is_a: GO:0009410 ! response to xenobiotic stimulus property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600076 name: stimulant use measurement def: "Quantification of some aspect of stimulant use, for instance in the treatment of ADHD." [] xref: PMID:34154395 is_a: EFO:0007010 ! drug use measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600077 name: cardiac troponin I change measurement def: "Quantification of the change in cardiac troponin I in an individual over time, typically measured in blood." [] synonym: "cTnI change measurement" EXACT [] xref: PMID:33961016 is_a: EFO:0010071 ! cardiac troponin I measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600078 name: Achilles tendon injury def: "Any injury to the Achilles tendon, including bursitis, tendinitis, rupture or degeneration." [] xref: PMID:33606446 is_a: EFO:0009508 ! leg injury property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600079 name: glucocorticoid receptor gene expression measurement def: "Quantification of glucocorticoid receptor gene expression." [] synonym: "NR3C1 gene expression measurement" EXACT [] xref: PMID:33002292 is_a: EFO:0600068 ! gene expression measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600080 name: response to recombinant tissue-plasminogen activator def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a recombinant tissue-plasminogen activator stimulus, a type of systemic thrombolytic agent." [] xref: PMID:33723576 is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600081 name: time spent outdoors measurement def: "Quantification of time an individual spends outside." [] xref: https://biobank.ndph.ox.ac.uk/crystal/field.cgi?id=1050 xref: https://biobank.ndph.ox.ac.uk/crystal/field.cgi?id=1060 xref: https://doi.org/10.1101/2021.09.02.21262942 is_a: EFO:0008360 ! environmental exposure measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "0000-0001-8222-008X" xsd:string [Term] id: EFO:0600082 name: insulin use measurement def: "Quantification of some aspect of the use of insulin." [] xref: https://biobank.ctsu.ox.ac.uk/crystal/field.cgi?id=2986 xref: https://doi.org/10.1101/2021.09.02.21262942 is_a: EFO:0004467 ! insulin measurement is_a: EFO:0007010 ! drug use measurement relationship: IAO:0000136 CHEBI:5931 ! is_about insulin (human) property_value: IAO:0000117 "0000-0001-8222-008X" xsd:string [Term] id: EFO:0600083 name: family history of prostate cancer def: "A reported family history of prostate cancer in one or more family members." [] xref: https://biobank.ndph.ox.ac.uk/showcase/label.cgi?id=100034 xref: https://doi.org/10.1101/2021.09.02.21262942 is_a: EFO:0009640 ! family history of cancer relationship: IAO:0000136 MONDO:0008315 ! is_about prostate cancer property_value: IAO:0000117 "0000-0001-8222-008X" xsd:string [Term] id: EFO:0600084 name: bowel opening frequency def: "Number of times bowels opened per day." [] synonym: "average number of times bowels opened per day" EXACT [] synonym: "frequency of bowel action (observable entity)" EXACT [] synonym: "frequency of bowel movement" EXACT [] synonym: "frequency of stool" EXACT [] synonym: "number of times bowel opened" EXACT [] xref: https://biobank.ndph.ox.ac.uk/ukb/field.cgi?id=21044 xref: https://doi.org/10.1101/2021.09.02.21262942 xref: SNOMEDCT:249521002 is_a: EFO:0001444 ! measurement relationship: IAO:0000136 UBERON:0001007 ! is_about digestive system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "0000-0001-8222-008X" xsd:string [Term] id: EFO:0600085 name: PP interval def: "An interval measured from the onset of the P wave in one PQRST wave complex to the onset of the P wave in the following PQRST wave complex." [] xref: CMO:0000278 xref: https://biobank.ndph.ox.ac.uk/showcase/field.cgi?id=22334 xref: https://doi.org/10.1101/2021.09.02.21262942 is_a: EFO:0004327 ! electrocardiography property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "0000-0001-8222-008X" xsd:string [Term] id: EFO:0600086 name: appendectomy def: "Procedure to remove the appendix." [] xref: doi:10.1101/2021.11.19.21266436 xref: NCIT:C51687 xref: SNOMEDCT:80146002 is_a: EFO:0020979 ! digestive system surgery property_value: IAO:0000117 "0000-0001-8222-008X" xsd:string [Term] id: EFO:0600087 name: narrow occludable anterior chamber angle def: "A narrow or occludable angle is when the angle of the eye is narrow or closed by the iris. Occludable anterior chamber angle is considered as a primary risk factor for primary angle closure glaucoma (PACG)." [] synonym: "occludable anterior chamber of eye" EXACT [] xref: PMID:34608871 xref: SNOMEDCT:421324002 is_a: EFO:0005668 ! anterior chamber depth measurement relationship: IAO:0000136 MONDO:0005041 ! is_about glaucoma relationship: IAO:0000136 UBERON:0000970 ! is_about eye property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0600088 name: lymphocyte:monocyte ratio def: "Quantification of the ratio between absolute lymphocyte count and absolute monocyte count." [] synonym: "LMR" EXACT [] synonym: "lymphocyte-to-monocyte ratio" EXACT [] xref: PMID:34469753 is_a: EFO:0004503 ! hematological measurement relationship: IAO:0000136 CL:0000542 ! is_about lymphocyte relationship: IAO:0000136 CL:0000576 ! is_about monocyte property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0600089 name: peritoneal solute transfer rate def: "Quantification of the rate at which small molecules cross the peritoneal membrane typically measured as the ratio of the concentration of creatinine in the dialysate at 4 hours of a dwell of dialysate solution to that in the plasma (4-hr D/P creatinine)." [] synonym: "peritoneal transport rate" EXACT [] xref: PMID:34197840 xref: SNOMEDCT:251875008 is_a: EFO:0004742 ! renal system measurement relationship: IAO:0000136 EFO:0010690 ! is_about renal dialysis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0600090 name: response to peritoneal dialysis def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peritoneal dialysis." [] xref: PMID:34197840 is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0600091 name: complement factor H-related protein 4 measurement def: "Quantification of the amount of complement factor H-related protein 4 in a sample." [] synonym: "CFHL4 protein measurement" EXACT [] synonym: "FHR-4 protein measurement" EXACT [] synonym: "FHR4 protein measurement" EXACT [] xref: PMID:34260948 xref: PR:Q92496 is_a: EFO:0600053 ! complement factor H-related proteins measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600092 name: complement factor H-like 1 protein measurement def: "Quantification of complement factor H-like 1 protein in a sample." [] synonym: "FHL-1 protein measurement" EXACT [] xref: PMID:34260948 is_a: EFO:0007937 ! blood protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600093 name: response to cosmetics def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cosmetic product stimulus." [] xref: PMID:34265127 is_a: GO:0009410 ! response to xenobiotic stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600094 name: skin roughness measurement def: "Quantification of some aspect of skin roughness such as frequency or severity." [] xref: PMID:34265127 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600095 name: primary dental caries def: "The decay of any primary tooth, in which it becomes softened, discolored, and/or porous." [] xref: PMID:34311721 is_a: EFO:0003819 ! dental caries property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0600096 name: permanent dental caries def: "The decay of any permanent tooth, in which it becomes softened, discolored, and/or porous." [] xref: PMID:34311721 is_a: EFO:0003819 ! dental caries property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0700000 name: spatial proteomics def: "An assay that allows for visualization and quantification of proteins or associated antibodies used for evaluating in situ protein spatial distribution." [doi:10.1038/s41580-018-0094-y] is_a: EFO:0001458 ! protein assay property_value: http://purl.org/dc/elements/1.1/contributor https://orcid.org/0000-0002-1773-2692 property_value: http://purl.org/dc/terms/date 2022-07-01T18:11:08Z xsd:dateTime [Term] id: EFO:0700001 name: PhenoCycler-Fusion def: "A spatial discovery system where whole-slide staining of tissues using pre-designed or custom antibody panels are imaged through automated fluidics (PhenoCycler) and high-speed image acquisition (PhenoImager)." [https://orcid.org/0000-0003-4389-9821, https://www.akoyabio.com/blog/10-reasons-we-are-excited-about-phenocycler-fusion/] synonym: "CODEX" BROAD [https://www.akoyabio.com/phenocycler/software/] is_a: EFO:0700000 ! spatial proteomics relationship: has_part EFO:0700002 ! PhenoCycler property_value: http://purl.org/dc/elements/1.1/contributor https://orcid.org/0000-0002-1773-2692 property_value: http://purl.org/dc/terms/date 2022-07-07T07:53:58Z xsd:dateTime [Term] id: EFO:0700002 name: PhenoCycler def: "An automated fluidics system that uses oligonucleotide conjugated antibodies for tissue staining, followed by iterative cycles of applying fluorophore-conjugated reporter oligonucletides and gentle washing to generate multiplexed imaging data." [https://orcid.org/0000-0003-4389-9821] synonym: "CODEX" BROAD [https://www.akoyabio.com/phenocycler/instrument/] is_a: EFO:0700000 ! spatial proteomics property_value: http://purl.org/dc/elements/1.1/contributor https://orcid.org/0000-0002-1773-2692 property_value: http://purl.org/dc/terms/date 2022-07-07T08:44:45Z xsd:dateTime [Term] id: EFO:0700003 name: BD Rhapsody Whole Transcriptome Analysis def: "A BD Biosciences-based technology that sequences mRNA from the 3' end in an unbiased manner." [https://orcid.org/0000-0002-1196-4871, https://www.bdbiosciences.com/content/dam/bdb/marketing-documents/BD-Rhapsody-WTA-Amplification-Kit.pdf] synonym: "BD Rhapsody WTA" EXACT [] is_a: EFO:0010183 ! single cell library construction property_value: http://purl.org/dc/elements/1.1/contributor https://orcid.org/0000-0002-1773-2692 property_value: http://purl.org/dc/terms/date 2022-08-16T11:55:08Z xsd:dateTime [Term] id: EFO:0700004 name: BD Rhapsody Targeted mRNA def: "A BD Biosciences-based technology that utilizes multiplex PCR to sequence mRNA from the 3' end of specific genes from a predetermined panel." [https://orcid.org/0000-0002-1196-4871, https://scomix.bd.com/hc/en-us/articles/360023293851-Targeted-mRNA-Protocols, https://www.bdbiosciences.com/en-us/products/reagents/single-cell-multiomics/targeted-kits] is_a: EFO:0010183 ! single cell library construction property_value: http://purl.org/dc/elements/1.1/contributor https://orcid.org/0000-0002-1773-2692 property_value: http://purl.org/dc/terms/date 2022-08-16T12:05:20Z xsd:dateTime [Term] id: EFO:0700005 name: Abseq def: "A method that uses DNA-tagged antibodies to quantify proteins in single cells." [https://orcid.org/0000-0002-1196-4871, PMID:28290550] is_a: EFO:0001458 ! protein assay is_a: EFO:0010183 ! single cell library construction property_value: http://purl.org/dc/elements/1.1/contributor https://orcid.org/0000-0002-1773-2692 property_value: http://purl.org/dc/terms/date 2022-08-17T11:52:48Z xsd:dateTime [Term] id: EFO:0700006 name: ExSeq def: "A spatial transcriptomics assay that involves physically expanding specimens with polymer- and hydrogel-based systems followed by in situ sequencing." [https://orcid.org/0000-0003-4389-9821, https://www.science.org/doi/10.1126/science.aax2656] {comment="PMID:33509999"} synonym: "expansion sequencing" EXACT [PMID:33509999] is_a: EFO:0008989 ! in situ sequencing property_value: http://purl.org/dc/elements/1.1/contributor https://orcid.org/0000-0002-1773-2692 property_value: http://purl.org/dc/terms/date 2022-08-24T09:23:12Z xsd:dateTime [Term] id: EFO:0700007 name: targeted ExSeq def: "A spatial transcriptomics assay that involves physically expanding specimens with polymer- and hydrogel-based systems followed by targeted padlock probe hybridization, amplification, and in situ sequencing of padlock barcode." [https://orcid.org/0000-0003-4389-9821, PMID:33509999] is_a: EFO:0700006 ! ExSeq property_value: http://purl.org/dc/elements/1.1/contributor https://orcid.org/0000-0002-1773-2692 property_value: http://purl.org/dc/terms/date 2022-08-24T09:54:36Z xsd:dateTime [Term] id: EFO:0700008 name: untargeted ExSeq def: "A spatial transcriptomics assay that involves physically expanding specimens with polymer- and hydrogel-based systems followed by reverse transcription, amplification, and in situ sequencing of untargeted RNA using FISSEQ." [https://orcid.org/0000-0003-4389-9821, PMID:33509999] is_a: EFO:0700006 ! ExSeq relationship: has_part EFO:0008990 ! FISSEQ property_value: http://purl.org/dc/elements/1.1/contributor https://orcid.org/0000-0002-1773-2692 property_value: http://purl.org/dc/terms/date 2022-08-24T10:14:27Z xsd:dateTime [Term] id: EFO:0700009 name: transvaginal ultrasound-guided oocyte retrieval def: "A surgical technique used by medical professionals to extract mature eggs directly from an ovary with the guidance of ultrasound imaging." [https://orcid.org/0000-0002-7431-4139, PMID:2969085] synonym: "egg retrieval" BROAD [] synonym: "oocyte retrieval" BROAD [] synonym: "ultrasound-guided transvaginal needle aspiration of follicles" EXACT [] is_a: OBI:0600005 ! collecting specimen from organism property_value: http://purl.org/dc/elements/1.1/contributor https://orcid.org/0000-0002-1773-2692 property_value: http://purl.org/dc/terms/date 2022-08-31T14:15:29Z xsd:dateTime [Term] id: EFO:0700010 name: TruDrop def: "A droplet-based microfluidic library construction platform based on inDrop that incorporates dual-indexing to detect index-hopping and standard Illumina sequencing primers for high-throughput sequencing." [https://bmcgenomics.biomedcentral.com/articles/10.1186/s12864-020-06843-0] synonym: "TruSeq-inDrop" EXACT [] is_a: EFO:0010183 ! single cell library construction relationship: has_part EFO:0008780 ! inDrop property_value: http://purl.org/dc/terms/date 2022-09-22T07:58:24Z xsd:dateTime [Term] id: EFO:0700011 name: GEXSCOPE technology def: "A microwell-based technology developed by Singleron to prepare mRNA from single cells or single nuclei and generate a next generation sequencing (NGS) library for high-throughput sequencing." [https://orcid.org/0000-0002-1196-4871, https://singleron.bio/product/detail-3.html, https://singleron.bio/product/detail-4.html] is_a: EFO:0010183 ! single cell library construction property_value: http://purl.org/dc/terms/date 2022-09-23T11:13:19Z xsd:dateTime [Term] id: EFO:0700012 name: library preparation for spatial transcriptomics def: "The library preparation step of a spatial transcriptomics assay." [https://orcid.org/0000-0002-4900-7575] is_a: OBI:0000711 ! library preparation property_value: http://purl.org/dc/terms/date 2022-10-14T12:19:34Z xsd:dateTime [Term] id: EFO:0700013 name: oral rinse collection def: "A saliva collection method where a solution such as a saline solution or other solution is used to rinse the mouth before collection of saliva." [https://orcid.org/0000-0002-2443-7325] is_a: OBI:0600005 ! collecting specimen from organism property_value: http://purl.org/dc/terms/date 2022-10-24T11:23:38Z xsd:dateTime [Term] id: EFO:0700014 name: ECCITE-seq def: "The collective capabilities of CITE-seq and Cell Hashing adapted for compatibility with the 5P / V(D)J single cell kit from 10x Genomics, to allow researchers to perform sample multiplexing, doublet detection and protein detection together with 5’ gene expression and V(D)J reconstruction." [https://cite-seq.com/eccite-seq/] {http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-7431-4139"} comment: Through the addition of a custom RT primer and additional PCR reactions on the low molecular weight cDNA fraction, sgRNA capture and single cell CRISPR screens with multimodal readout are made possible. {xref="https://cite-seq.com/eccite-seq/"} synonym: "expanded CRISPR-compatible cellular indexing of transcriptomes and epitopes by sequencing" EXACT [] synonym: "expanded CRISPR-compatible CITE-seq" EXACT [https://cite-seq.com/eccite-seq/] is_a: EFO:0009294 ! CITE-seq property_value: http://purl.org/dc/terms/date 2023-01-12T08:31:22Z xsd:dateTime [Term] id: EFO:0700015 name: PacBio Sequel II system def: "The PacBio Sequel II system is a high-throughput, long-read sequencing machine developed by PacBio." [https://www.pacb.com/technology/hifi-sequencing/sequel-system/, OBI:0002633] synonym: "Pacific BioSciences Sequel II" EXACT [] is_a: EFO:0002699 ! high throughput sequencer property_value: http://purl.org/dc/terms/date 2023-04-14T09:04:42Z xsd:dateTime [Term] id: EFO:0700016 name: Smart-seq v4 def: "Library construction method using SMART (Switching Mechanism at the 5' end of the RNA Template) to generate high-quality cDNA from ultra-low amounts of total RNA or directly from multiple intact cells (<1,000 cells). Smart-seq v4 improves upon the Smart-seq2 method by incorporating both the novel use of locked nucleic acid (LNA) technology and an optimized template switching oligo." [https://www.takarabio.com/a/114896#\:~\:text=The%20SMART%2DSeq%20v4%20Ultra\,volume%20of%201%E2%80%9310%20%C2%B5l] {http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0002-7423-6054"} synonym: "SMART-Seq v4" EXACT [https://www.takarabio.com/a/114896#\:~\:text=The%20SMART%2DSeq%20v4%20Ultra\,volume%20of%201%E2%80%9310%20%C2%B5l] is_a: EFO:0010184 ! Smart-like is_a: OBI:0000070 ! assay property_value: http://purl.org/dc/terms/date 2023-05-10T09:25:19Z xsd:dateTime [Term] id: EFO:0700017 name: pseudo-bulk aggregation of single-cell ATAC-seq data def: "A processed matrix generation method that involves combining (binary or quantitative) single-cell ATAC seq data from multiple cells within the same biological sample and/or cell types, depending on the intended downstream values. Ideally, aggregation is done within predefined regions of the genome e.g., using called peaks or tiles across the genome. The aggregated profiles can then be used in the same manner as bulk ATAC-seq or DNase-seq data." [doi:10.1038/s41467-021-26530-2, https://orcid.org/0000-0002-8790-797X] comment: An example of an applied case of pseduo-bulk scATAC-seq data to facilitate comparisons between traditional DNase/ATAC data and single-cell studies: https://pubmed.ncbi.nlm.nih.gov/29539636. {xref="https://orcid.org/0000-0002-8790-797X"} synonym: "pseduo-bulk scATAC-seq data" EXACT [https://orcid.org/0000-0002-8790-797X] synonym: "pseudo-bulk ATAC-seq" RELATED [https://orcid.org/0000-0002-8790-797X] is_a: EFO:0030053 ! pseudo-bulk aggregation of single-cell expression data property_value: http://purl.org/dc/terms/date 2023-06-30T08:56:09Z xsd:dateTime [Term] id: EFO:0700018 name: BGI MGISEQ-2000 def: "A next-generation sequencing (NGS) sequencer from Beijing Genomics Institute (BGI) based on DNA nanoball (DNB) and probe-anchor synthesis (cPAS) technology, which were also used in the previous version of the BGISEQ-500 device; however, the reagents for MGISEQ-2000 have been refined and the platform utilizes updated software." [doi:10.1101/754671, doi:10.1371/journal.pone.0230301, doi:10.3389/fgene.2021.730519] is_a: EFO:0002699 ! high throughput sequencer property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0608-0553 property_value: http://purl.org/dc/terms/date 2023-07-03T11:32:12Z xsd:dateTime [Term] id: EFO:0700019 name: ONT PromethION 2 Solo def: "The ONT PromethION 2 Solo is a compact modular sequencing unit developed by Oxford Nanopore Technologies that can run up to two PromethION flow cells and connect to ONT GridION Mk1 devices." [https://community.nanoporetech.com/requirements_documents/promethion-2s-spec.pdf, https://nanoporetech.com/products/promethion-2#tabs-0=p2Solo, https://store.nanoporetech.com/us/p2-solo.html] {http://www.ebi.ac.uk/efo/definition_citation="https://orcid.org/0000-0003-3065-9183"} comment: Each flow cell of the ONT PromethION 2 Solo is independently addressable, meaning that experiments can be run concurrently or individually. The PromethION 2 Solo plugs into a GridION Mk1 or user compute for real-time data streaming and analysis. {xref="https://community.nanoporetech.com/requirements_documents/promethion-2s-spec.pdf"} synonym: "ONT P2 Solo" EXACT [] is_a: EFO:0002699 ! high throughput sequencer property_value: http://purl.org/dc/terms/date 2023-05-23T08:36:03Z xsd:dateTime [Term] id: EFO:0800000 name: folate intake measurement def: "Quantification of dietary folate intake." [] synonym: "vitamin B9 intake measurement" EXACT [] xref: PMID:34959947 is_a: EFO:0008111 ! diet measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0800001 name: intracranial germ cell tumor def: "Intracranial germ cell tumors are rare germ cell tumors that arise within the cranium mainly in children and adolescents. They are histologically classified into germinoma and non-germinomatous germ cell tumors." [PMID:35918310] is_a: MONDO:0003000 ! central nervous system germ cell tumor property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/contributor http://orcid.org/0000-0001-6757-4744 [Term] id: EFO:0800002 name: 5-hydroxylysine measurement def: "Quantification of the amount of 5-hydroxylysine in a sample." [] synonym: "hydroxylysine measurement" EXACT [] xref: HMDB:HMDB0000450 xref: KEGG COMPOUND:C16741 xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800003 name: 4-guanidinobutanoate measurement def: "Quantification of the amount of 4-guanidinobutanoate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800004 name: imidazole lactate measurement def: "Quantification of the amount of imidazole lactate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800005 name: N-acetylglutamate measurement def: "Quantification of the amount of N-acetylglutamate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800006 name: N-alpha-acetylornithine measurement def: "Quantification of the amount of N-alpha-acetylornithine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800007 name: gentisate measurement def: "Quantification of the amount of gentisate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800008 name: 5-aminovalerate measurement def: "Quantification of the amount of 5-aminovalerate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800009 name: alpha-hydroxyisocaproate measurement def: "Quantification of the amount of alpha-hydroxyisocaproate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800010 name: isovalerate (i5:0) measurement def: "Quantification of the amount of isovalerate (i5:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800011 name: 1-methylguanidine measurement def: "Quantification of the amount of 1-methylguanidine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800012 name: N-acetylaspartate (NAA) measurement def: "Quantification of the amount of N-acetylaspartate (NAA) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800013 name: cysteine s-sulfate measurement def: "Quantification of the amount of cysteine s-sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800014 name: 3-hydroxy-2-ethylpropionate measurement def: "Quantification of the amount of 3-hydroxy-2-ethylpropionate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800015 name: 1-methyl-4-imidazoleacetate measurement def: "Quantification of the amount of 1-methyl-4-imidazoleacetate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800016 name: guanidinosuccinate measurement def: "Quantification of the amount of guanidinosuccinate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800017 name: N-acetylglutamine measurement def: "Quantification of the amount of N-acetylglutamine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800018 name: N-acetyltryptophan measurement def: "Quantification of the amount of N-acetyltryptophan in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800019 name: N-acetylphenylalanine measurement def: "Quantification of the amount of N-acetylphenylalanine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800020 name: N-acetylthreonine measurement def: "Quantification of the amount of N-acetylthreonine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800021 name: N-acetylisoleucine measurement def: "Quantification of the amount of N-acetylisoleucine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800022 name: N-acetylhistidine measurement def: "Quantification of the amount of N-acetylhistidine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800023 name: alpha-hydroxyisovalerate measurement def: "Quantification of the amount of alpha-hydroxyisovalerate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800024 name: isovalerylcarnitine (C5) measurement def: "Quantification of the amount of isovalerylcarnitine (C5) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800025 name: isovalerylglycine measurement def: "Quantification of the amount of isovalerylglycine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800026 name: 2-methylbutyrylcarnitine (C5) measurement def: "Quantification of the amount of 2-methylbutyrylcarnitine (C5) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800027 name: 2-hydroxy-3-methylvalerate measurement def: "Quantification of the amount of 2-hydroxy-3-methylvalerate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800028 name: N-acetylcitrulline measurement def: "Quantification of the amount of N-acetylcitrulline in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800029 name: isobutyrylglycine measurement def: "Quantification of the amount of isobutyrylglycine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800030 name: glutarylcarnitine (C5-DC) measurement def: "Quantification of the amount of glutarylcarnitine (C5-DC) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800031 name: beta-hydroxyisovaleroylcarnitine measurement def: "Quantification of the amount of beta-hydroxyisovaleroylcarnitine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800032 name: tiglylcarnitine (C5:1-DC) measurement def: "Quantification of the amount of tiglylcarnitine (C5:1-DC) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800033 name: N-acetyl-aspartyl-glutamate (NAAG) measurement def: "Quantification of the amount of N-acetyl-aspartyl-glutamate (NAAG) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800034 name: 1-ribosyl-imidazoleacetate measurement def: "Quantification of the amount of 1-ribosyl-imidazoleacetate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800035 name: indoleacetylglutamine measurement def: "Quantification of the amount of indoleacetylglutamine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800036 name: N6-acetyllysine measurement def: "Quantification of the amount of N6-acetyllysine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800037 name: dimethylarginine (SDMA + ADMA) measurement def: "Quantification of the amount of dimethylarginine (SDMA + ADMA) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800038 name: N-acetylserine measurement def: "Quantification of the amount of N-acetylserine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800039 name: N-methylproline measurement def: "Quantification of the amount of N-methylproline in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800040 name: 5-methylthioribose measurement def: "Quantification of the amount of 5-methylthioribose in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800041 name: cysteine sulfinic acid measurement def: "Quantification of the amount of cysteine sulfinic acid in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800042 name: S-methylmethionine measurement def: "Quantification of the amount of S-methylmethionine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800043 name: indole-3-carboxylate measurement def: "Quantification of the amount of indole-3-carboxylate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800044 name: N-acetyl-3-methylhistidine measurement def: "Quantification of the amount of N-acetyl-3-methylhistidine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800045 name: N-acetyl-cadaverine measurement def: "Quantification of the amount of N-acetyl-cadaverine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800046 name: alpha-ketoglutaramate measurement def: "Quantification of the amount of alpha-ketoglutaramate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800047 name: 3-methylglutaconate measurement def: "Quantification of the amount of 3-methylglutaconate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800048 name: 5-(galactosylhydroxy)-L-lysine measurement def: "Quantification of the amount of 5-(galactosylhydroxy)-L-lysine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800049 name: cysteinylglycine disulfide measurement def: "Quantification of the amount of cysteinylglycine disulfide in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800050 name: formiminoglutamate measurement def: "Quantification of the amount of formiminoglutamate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800051 name: hydantoin-5-propionate measurement def: "Quantification of the amount of hydantoin-5-propionate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800052 name: 4-hydroxyglutamate measurement def: "Quantification of the amount of 4-hydroxyglutamate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800053 name: gamma-carboxyglutamate measurement def: "Quantification of the amount of gamma-carboxyglutamate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800054 name: S-methylcysteine measurement def: "Quantification of the amount of S-methylcysteine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800055 name: argininate measurement def: "Quantification of the amount of argininate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800056 name: 2-oxoarginine measurement def: "Quantification of the amount of 2-oxoarginine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800057 name: 1-methyl-5-imidazoleacetate measurement def: "Quantification of the amount of 1-methyl-5-imidazoleacetate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800058 name: S-methylcysteine sulfoxide measurement def: "Quantification of the amount of S-methylcysteine sulfoxide in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800059 name: carboxyethyl-GABA measurement def: "Quantification of the amount of carboxyethyl-GABA in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800060 name: beta-citrylglutamate measurement def: "Quantification of the amount of beta-citrylglutamate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800061 name: N6-methyllysine measurement def: "Quantification of the amount of N6-methyllysine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800062 name: imidazole propionate measurement def: "Quantification of the amount of imidazole propionate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800063 name: lanthionine measurement def: "Quantification of the amount of lanthionine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800064 name: N-methyltaurine measurement def: "Quantification of the amount of N-methyltaurine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800065 name: N-acetyl-1-methylhistidine measurement def: "Quantification of the amount of N-acetyl-1-methylhistidine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800066 name: 6-oxopiperidine-2-carboxylate measurement def: "Quantification of the amount of 6-oxopiperidine-2-carboxylate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800067 name: N-delta-acetylornithine measurement def: "Quantification of the amount of N-delta-acetylornithine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800068 name: acisoga measurement def: "Quantification of the amount of acisoga in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800069 name: N-formylanthranilic acid measurement def: "Quantification of the amount of N-formylanthranilic acid in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800070 name: N2,N5-diacetylornithine measurement def: "Quantification of the amount of N2,N5-diacetylornithine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800071 name: 3-methoxytyramine sulfate measurement def: "Quantification of the amount of 3-methoxytyramine sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800072 name: methionine sulfone measurement def: "Quantification of the amount of methionine sulfone in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800073 name: fructosyllysine measurement def: "Quantification of the amount of fructosyllysine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800074 name: 3-methylglutarylcarnitine (2) measurement def: "Quantification of the amount of 3-methylglutarylcarnitine (2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800075 name: N-formylphenylalanine measurement def: "Quantification of the amount of N-formylphenylalanine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800076 name: tyramine O-sulfate measurement def: "Quantification of the amount of tyramine O-sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800077 name: N-acetylhistamine measurement def: "Quantification of the amount of N-acetylhistamine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800078 name: vanillactate measurement def: "Quantification of the amount of vanillactate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800079 name: p-cresol glucuronide measurement def: "Quantification of the amount of p-cresol glucuronide in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800080 name: 4-methoxyphenol sulfate measurement def: "Quantification of the amount of 4-methoxyphenol sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800081 name: dopamine 4-sulfate measurement def: "Quantification of the amount of dopamine 4-sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800082 name: dopamine 3-O-sulfate measurement def: "Quantification of the amount of dopamine 3-O-sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800083 name: N-acetylkynurenine (2) measurement def: "Quantification of the amount of N-acetylkynurenine (2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800084 name: phenol glucuronide measurement def: "Quantification of the amount of phenol glucuronide in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800085 name: 5-hydroxyindole sulfate measurement def: "Quantification of the amount of 5-hydroxyindole sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800086 name: 7-hydroxyindole sulfate measurement def: "Quantification of the amount of 7-hydroxyindole sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800087 name: 2-methylserine measurement def: "Quantification of the amount of 2-methylserine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800088 name: catechol glucuronide measurement def: "Quantification of the amount of catechol glucuronide in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800089 name: indolepropionylglycine measurement def: "Quantification of the amount of indolepropionylglycine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800090 name: N,N,N-trimethyl-5-aminovalerate measurement def: "Quantification of the amount of N,N,N-trimethyl-5-aminovalerate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800091 name: (N(1) + N(8))-acetylspermidine measurement def: "Quantification of the amount of (N(1) + N(8))-acetylspermidine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800092 name: hydroxyasparagine measurement def: "Quantification of the amount of hydroxyasparagine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800093 name: N-methylhydroxyproline measurement def: "Quantification of the amount of N-methylhydroxyproline in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800094 name: N,N,N-trimethyl-alanylproline betaine (TMAP) measurement def: "Quantification of the amount of N,N,N-trimethyl-alanylproline betaine (TMAP) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800095 name: N-carbamoylvaline measurement def: "Quantification of the amount of N-carbamoylvaline in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800096 name: 8-methoxykynurenate measurement def: "Quantification of the amount of 8-methoxykynurenate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800097 name: 3-amino-2-piperidone measurement def: "Quantification of the amount of 3-amino-2-piperidone in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800098 name: N,N-dimethylalanine measurement def: "Quantification of the amount of N,N-dimethylalanine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800099 name: 6-bromotryptophan measurement def: "Quantification of the amount of 6-bromotryptophan in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800100 name: N6,N6-dimethyllysine measurement def: "Quantification of the amount of N6,N6-dimethyllysine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800101 name: 1-carboxyethylphenylalanine measurement def: "Quantification of the amount of 1-carboxyethylphenylalanine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800102 name: 1-carboxyethyltyrosine measurement def: "Quantification of the amount of 1-carboxyethyltyrosine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800103 name: 1-carboxyethylvaline measurement def: "Quantification of the amount of 1-carboxyethylvaline in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800104 name: 1-carboxyethylleucine measurement def: "Quantification of the amount of 1-carboxyethylleucine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800105 name: 1-carboxyethylisoleucine measurement def: "Quantification of the amount of 1-carboxyethylisoleucine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800106 name: indoleacetoylcarnitine measurement def: "Quantification of the amount of indoleacetoylcarnitine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800107 name: N-acetyl-isoputreanine measurement def: "Quantification of the amount of N-acetyl-isoputreanine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800108 name: 5-hydroxyindole glucuronide measurement def: "Quantification of the amount of 5-hydroxyindole glucuronide in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800109 name: N2-acetyl,N6-methyllysine measurement def: "Quantification of the amount of N2-acetyl,N6-methyllysine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800110 name: 2-ketocaprylate measurement def: "Quantification of the amount of 2-ketocaprylate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800111 name: 2,3-dihydroxy-5-methylthio-4-pentenoate (DMTPA) measurement def: "Quantification of the amount of 2,3-dihydroxy-5-methylthio-4-pentenoate (DMTPA) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800112 name: hydroxy-N6,N6,N6-trimethyllysine measurement def: "Quantification of the amount of hydroxy-N6,N6,N6-trimethyllysine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800113 name: 2-hydroxy-4-(methylthio)butanoic acid measurement def: "Quantification of the amount of 2-hydroxy-4-(methylthio)butanoic acid in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800114 name: trans-4-hydroxyproline measurement def: "Quantification of the amount of trans-4-hydroxyproline in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800115 name: picolinate measurement def: "Quantification of the amount of picolinate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800116 name: N-acetylleucine measurement def: "Quantification of the amount of N-acetylleucine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800117 name: N-acetylvaline measurement def: "Quantification of the amount of N-acetylvaline in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800118 name: N-acetylalanine measurement def: "Quantification of the amount of N-acetylalanine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800119 name: vanillylmandelate (VMA) measurement def: "Quantification of the amount of vanillylmandelate (VMA) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800120 name: 4-hydroxyphenylpyruvate measurement def: "Quantification of the amount of 4-hydroxyphenylpyruvate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800121 name: tigloylglycine measurement def: "Quantification of the amount of tigloylglycine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800122 name: cys-gly, oxidized measurement def: "Quantification of the amount of cys-gly, oxidized in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800123 name: anthranilate measurement def: "Quantification of the amount of anthranilate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800124 name: 4-hydroxyphenylacetate measurement def: "Quantification of the amount of 4-hydroxyphenylacetate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800125 name: beta-hydroxyisovalerate measurement def: "Quantification of the amount of beta-hydroxyisovalerate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800126 name: N6,N6,N6-trimethyllysine measurement def: "Quantification of the amount of N6,N6,N6-trimethyllysine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800127 name: N-acetylputrescine measurement def: "Quantification of the amount of N-acetylputrescine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800128 name: N-formylmethionine measurement def: "Quantification of the amount of N-formylmethionine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800129 name: methylsuccinate measurement def: "Quantification of the amount of methylsuccinate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800130 name: 5-methylthioadenosine (MTA) measurement def: "Quantification of the amount of 5-methylthioadenosine (MTA) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800131 name: 2-hydroxyphenylacetate measurement def: "Quantification of the amount of 2-hydroxyphenylacetate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800132 name: phenylpyruvate measurement def: "Quantification of the amount of phenylpyruvate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800133 name: cysteinylglycine measurement def: "Quantification of the amount of cysteinylglycine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800134 name: cystine measurement def: "Quantification of the amount of cystine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800135 name: guanidinoacetate measurement def: "Quantification of the amount of guanidinoacetate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800136 name: S-1-pyrroline-5-carboxylate measurement def: "Quantification of the amount of S-1-pyrroline-5-carboxylate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800137 name: 2-aminoadipate measurement def: "Quantification of the amount of 2-aminoadipate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800138 name: trans-urocanate measurement def: "Quantification of the amount of trans-urocanate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800139 name: 5-hydroxyindoleacetate measurement def: "Quantification of the amount of 5-hydroxyindoleacetate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800140 name: alpha-ketobutyrate measurement def: "Quantification of the amount of alpha-ketobutyrate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800141 name: kynurenate measurement def: "Quantification of the amount of kynurenate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800142 name: maltotriose measurement def: "Quantification of the amount of maltotriose in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800143 name: ribitol measurement def: "Quantification of the amount of ribitol in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800144 name: ribonate measurement def: "Quantification of the amount of ribonate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800145 name: galactonate measurement def: "Quantification of the amount of galactonate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800146 name: N6-carboxymethyllysine measurement def: "Quantification of the amount of N6-carboxymethyllysine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800147 name: xylonate measurement def: "Quantification of the amount of xylonate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800148 name: arabitol measurement def: "Quantification of the amount of arabitol in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800149 name: N-acetylgalactosamine measurement def: "Quantification of the amount of N-acetylgalactosamine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800150 name: lyxonate measurement def: "Quantification of the amount of lyxonate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800151 name: N-acetylglucosaminylasparagine measurement def: "Quantification of the amount of N-acetylglucosaminylasparagine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800152 name: 3-phosphoglycerate measurement def: "Quantification of the amount of 3-phosphoglycerate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800153 name: xylose measurement def: "Quantification of the amount of xylose in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800154 name: trigonelline (N'-methylnicotinate) measurement def: "Quantification of the amount of trigonelline (N'-methylnicotinate) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800155 name: I-urobilinogen measurement def: "Quantification of the amount of I-urobilinogen in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800156 name: nicotinamide riboside measurement def: "Quantification of the amount of nicotinamide riboside in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800157 name: nicotinate ribonucleoside measurement def: "Quantification of the amount of nicotinate ribonucleoside in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800158 name: heme measurement def: "Quantification of the amount of heme in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800159 name: gulonate measurement def: "Quantification of the amount of gulonate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800160 name: gamma-CEHC measurement def: "Quantification of the amount of gamma-CEHC in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800161 name: L-urobilin measurement def: "Quantification of the amount of L-urobilin in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800162 name: astaxanthin measurement def: "Quantification of the amount of astaxanthin in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800163 name: alpha-CEHC glucuronide measurement def: "Quantification of the amount of alpha-CEHC glucuronide in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800164 name: 2-O-methylascorbic acid measurement def: "Quantification of the amount of 2-O-methylascorbic acid in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800165 name: gamma-CEHC glucuronide measurement def: "Quantification of the amount of gamma-CEHC glucuronide in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800166 name: alpha-CEHC sulfate measurement def: "Quantification of the amount of alpha-CEHC sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800167 name: alpha-CMBHC glucuronide measurement def: "Quantification of the amount of alpha-CMBHC glucuronide in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800168 name: beta-tocopherol measurement def: "Quantification of the amount of beta-tocopherol in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800169 name: ascorbic acid 2-sulfate measurement def: "Quantification of the amount of ascorbic acid 2-sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800170 name: carotene diol (1) measurement def: "Quantification of the amount of carotene diol (1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800171 name: carotene diol (2) measurement def: "Quantification of the amount of carotene diol (2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800172 name: carotene diol (3) measurement def: "Quantification of the amount of carotene diol (3) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800173 name: ascorbic acid 3-sulfate measurement def: "Quantification of the amount of ascorbic acid 3-sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800174 name: delta-CEHC measurement def: "Quantification of the amount of delta-CEHC in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800175 name: quinolinate measurement def: "Quantification of the amount of quinolinate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800176 name: adenosine 5'-diphosphoribose (ADP-ribose) measurement def: "Quantification of the amount of adenosine 5'-diphosphoribose (ADP-ribose) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800177 name: flavin adenine dinucleotide (FAD) measurement def: "Quantification of the amount of flavin adenine dinucleotide (FAD) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800178 name: nicotinamide measurement def: "Quantification of the amount of nicotinamide in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800179 name: homocitrate measurement def: "Quantification of the amount of homocitrate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800180 name: isocitric lactone measurement def: "Quantification of the amount of isocitric lactone in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800181 name: suberate (C8-DC) measurement def: "Quantification of the amount of suberate (C8-DC) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800182 name: 2-arachidonoylglycerol (20:4) measurement def: "Quantification of the amount of 2-arachidonoylglycerol (20:4) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800183 name: 1-palmityl-GPC (O-16:0) measurement def: "Quantification of the amount of 1-palmityl-GPC (O-16:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800184 name: 1-stearoyl-2-arachidonoyl-GPI (18:0/20:4) measurement def: "Quantification of the amount of 1-stearoyl-2-arachidonoyl-GPI (18:0/20:4) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800185 name: sphingosine 1-phosphate measurement def: "Quantification of the amount of sphingosine 1-phosphate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800186 name: 1-oleoyl-GPS (18:1) measurement def: "Quantification of the amount of 1-oleoyl-GPS (18:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800187 name: 1-stearoyl-2-oleoyl-GPS (18:0/18:1) measurement def: "Quantification of the amount of 1-stearoyl-2-oleoyl-GPS (18:0/18:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800188 name: 1-stearoyl-GPI (18:0) measurement def: "Quantification of the amount of 1-stearoyl-GPI (18:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800189 name: 1,2-dipalmitoyl-GPC (16:0/16:0) measurement def: "Quantification of the amount of 1,2-dipalmitoyl-GPC (16:0/16:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800190 name: 1,2-distearoyl-GPC (18:0/18:0) measurement def: "Quantification of the amount of 1,2-distearoyl-GPC (18:0/18:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800191 name: 1-myristoyl-2-palmitoyl-GPC (14:0/16:0) measurement def: "Quantification of the amount of 1-myristoyl-2-palmitoyl-GPC (14:0/16:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800192 name: 2-hydroxyoctanoate measurement def: "Quantification of the amount of 2-hydroxyoctanoate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800193 name: 3-hydroxyoctanoate measurement def: "Quantification of the amount of 3-hydroxyoctanoate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800194 name: 1-palmitoylglycerol (16:0) measurement def: "Quantification of the amount of 1-palmitoylglycerol (16:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800195 name: 1-oleoylglycerol (18:1) measurement def: "Quantification of the amount of 1-oleoylglycerol (18:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800196 name: 2-oleoylglycerol (18:1) measurement def: "Quantification of the amount of 2-oleoylglycerol (18:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800197 name: 2-linoleoylglycerol (18:2) measurement def: "Quantification of the amount of 2-linoleoylglycerol (18:2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800198 name: 3-hydroxydecanoate measurement def: "Quantification of the amount of 3-hydroxydecanoate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800199 name: 1-linoleoylglycerol (18:2) measurement def: "Quantification of the amount of 1-linoleoylglycerol (18:2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800200 name: 2-palmitoylglycerol (16:0) measurement def: "Quantification of the amount of 2-palmitoylglycerol (16:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800201 name: butyrylcarnitine (C4) measurement def: "Quantification of the amount of butyrylcarnitine (C4) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800202 name: 7-ketodeoxycholate measurement def: "Quantification of the amount of 7-ketodeoxycholate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800203 name: glycolithocholate measurement def: "Quantification of the amount of glycolithocholate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800204 name: 3-hydroxylaurate measurement def: "Quantification of the amount of 3-hydroxylaurate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800205 name: 3-hydroxysebacate measurement def: "Quantification of the amount of 3-hydroxysebacate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800206 name: 5-hydroxyhexanoate measurement def: "Quantification of the amount of 5-hydroxyhexanoate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800207 name: propionylglycine measurement def: "Quantification of the amount of propionylglycine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800208 name: butyrylglycine measurement def: "Quantification of the amount of butyrylglycine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800209 name: 2-hydroxyadipate measurement def: "Quantification of the amount of 2-hydroxyadipate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800210 name: propionylcarnitine (C3) measurement def: "Quantification of the amount of propionylcarnitine (C3) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800211 name: docosadienoate (22:2n6) measurement def: "Quantification of the amount of docosadienoate (22:2n6) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800212 name: sebacate (C10-DC) measurement def: "Quantification of the amount of sebacate (C10-DC) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800213 name: tauro-beta-muricholate measurement def: "Quantification of the amount of tauro-beta-muricholate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800214 name: 1-palmitoyl-GPC (16:0) measurement def: "Quantification of the amount of 1-palmitoyl-GPC (16:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800215 name: 1-margaroyl-GPC (17:0) measurement def: "Quantification of the amount of 1-margaroyl-GPC (17:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800216 name: myristoylcarnitine (C14) measurement def: "Quantification of the amount of myristoylcarnitine (C14) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800217 name: 1-stearoyl-GPC (18:0) measurement def: "Quantification of the amount of 1-stearoyl-GPC (18:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800218 name: 1-oleoyl-GPC (18:1) measurement def: "Quantification of the amount of 1-oleoyl-GPC (18:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800219 name: hyocholate measurement def: "Quantification of the amount of hyocholate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800220 name: eicosenoate (20:1) measurement def: "Quantification of the amount of eicosenoate (20:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800221 name: 1-myristoyl-GPC (14:0) measurement def: "Quantification of the amount of 1-myristoyl-GPC (14:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800222 name: 1-arachidoyl-GPC (20:0) measurement def: "Quantification of the amount of 1-arachidoyl-GPC (20:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800223 name: 1-linoleoyl-GPC (18:2) measurement def: "Quantification of the amount of 1-linoleoyl-GPC (18:2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800224 name: 1-arachidonylglycerol (20:4) measurement def: "Quantification of the amount of 1-arachidonylglycerol (20:4) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800225 name: 1-linolenoylglycerol (18:3) measurement def: "Quantification of the amount of 1-linolenoylglycerol (18:3) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800226 name: 3-hydroxydodecanedioate measurement def: "Quantification of the amount of 3-hydroxydodecanedioate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800227 name: 1-stearoyl-GPE (18:0) measurement def: "Quantification of the amount of 1-stearoyl-GPE (18:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800228 name: 1-stearoyl-GPG (18:0) measurement def: "Quantification of the amount of 1-stearoyl-GPG (18:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800229 name: 1-docosahexaenoylglycerol (22:6) measurement def: "Quantification of the amount of 1-docosahexaenoylglycerol (22:6) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800230 name: 1-dihomo-linoleoylglycerol (20:2) measurement def: "Quantification of the amount of 1-dihomo-linoleoylglycerol (20:2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800231 name: 1-palmitoleoyl-GPC (16:1) measurement def: "Quantification of the amount of 1-palmitoleoyl-GPC (16:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800232 name: malonylcarnitine measurement def: "Quantification of the amount of malonylcarnitine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800233 name: hexanoylglycine measurement def: "Quantification of the amount of hexanoylglycine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800234 name: 1-arachidonoyl-GPC (20:4n6) measurement def: "Quantification of the amount of 1-arachidonoyl-GPC (20:4n6) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800235 name: 1-dihomo-linolenoyl-GPC (20:3n3 or 6) measurement def: "Quantification of the amount of 1-dihomo-linolenoyl-GPC (20:3n3 or 6) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800236 name: 1-dihomo-linoleoyl-GPC (20:2) measurement def: "Quantification of the amount of 1-dihomo-linoleoyl-GPC (20:2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800237 name: 2-arachidonoyl-GPC (20:4) measurement def: "Quantification of the amount of 2-arachidonoyl-GPC (20:4) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800238 name: 2-oleoyl-GPC (18:1) measurement def: "Quantification of the amount of 2-oleoyl-GPC (18:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800239 name: 2-linoleoyl-GPC (18:2) measurement def: "Quantification of the amount of 2-linoleoyl-GPC (18:2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800240 name: 2-palmitoleoyl-GPC (16:1) measurement def: "Quantification of the amount of 2-palmitoleoyl-GPC (16:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800241 name: 2-palmitoyl-GPC (16:0) measurement def: "Quantification of the amount of 2-palmitoyl-GPC (16:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800242 name: 2-myristoyl-GPC (14:0) measurement def: "Quantification of the amount of 2-myristoyl-GPC (14:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800243 name: 2-docosahexaenoyl-GPC (22:6) measurement def: "Quantification of the amount of 2-docosahexaenoyl-GPC (22:6) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800244 name: 1-docosahexaenoyl-GPC (22:6) measurement def: "Quantification of the amount of 1-docosahexaenoyl-GPC (22:6) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800245 name: 1-palmitoyl-GPE (16:0) measurement def: "Quantification of the amount of 1-palmitoyl-GPE (16:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800246 name: 1-oleoyl-GPE (18:1) measurement def: "Quantification of the amount of 1-oleoyl-GPE (18:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800247 name: 1-linoleoyl-GPE (18:2) measurement def: "Quantification of the amount of 1-linoleoyl-GPE (18:2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800248 name: 1-arachidonoyl-GPE (20:4n6) measurement def: "Quantification of the amount of 1-arachidonoyl-GPE (20:4n6) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800249 name: docosapentaenoate (n6 DPA; 22:5n6) measurement def: "Quantification of the amount of docosapentaenoate (n6 DPA; 22:5n6) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800250 name: 2-methylmalonylcarnitine (C4-DC) measurement def: "Quantification of the amount of 2-methylmalonylcarnitine (C4-DC) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800251 name: 3beta,7alpha-dihydroxy-5-cholestenoate measurement def: "Quantification of the amount of 3beta,7alpha-dihydroxy-5-cholestenoate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800252 name: 1-myristoylglycerol (14:0) measurement def: "Quantification of the amount of 1-myristoylglycerol (14:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800253 name: glycerophosphoethanolamine measurement def: "Quantification of the amount of glycerophosphoethanolamine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800254 name: 2-oleoyl-GPE (18:1) measurement def: "Quantification of the amount of 2-oleoyl-GPE (18:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800255 name: 2-palmitoyl-GPE (16:0) measurement def: "Quantification of the amount of 2-palmitoyl-GPE (16:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800256 name: 1-arachidonoyl-GPI (20:4) measurement def: "Quantification of the amount of 1-arachidonoyl-GPI (20:4) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800257 name: 1-palmitoyl-GPI (16:0) measurement def: "Quantification of the amount of 1-palmitoyl-GPI (16:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800258 name: glycolithocholate sulfate measurement def: "Quantification of the amount of glycolithocholate sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800259 name: deoxycarnitine measurement def: "Quantification of the amount of deoxycarnitine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800260 name: 2-arachidonoyl-GPE (20:4) measurement def: "Quantification of the amount of 2-arachidonoyl-GPE (20:4) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800261 name: alpha-hydroxycaproate measurement def: "Quantification of the amount of alpha-hydroxycaproate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800262 name: hexanoylglutamine measurement def: "Quantification of the amount of hexanoylglutamine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800263 name: 3-methyladipate measurement def: "Quantification of the amount of 3-methyladipate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800264 name: 2-linoleoyl-GPE (18:2) measurement def: "Quantification of the amount of 2-linoleoyl-GPE (18:2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800265 name: 1-oleoyl-GPI (18:1) measurement def: "Quantification of the amount of 1-oleoyl-GPI (18:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800266 name: 1-linoleoyl-GPI (18:2) measurement def: "Quantification of the amount of 1-linoleoyl-GPI (18:2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800267 name: 1-palmitoleoyl-GPE (16:1) measurement def: "Quantification of the amount of 1-palmitoleoyl-GPE (16:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800268 name: 1-palmitoleoyl-GPI (16:1) measurement def: "Quantification of the amount of 1-palmitoleoyl-GPI (16:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800269 name: 1-stearoyl-2-oleoyl-GPE (18:0/18:1) measurement def: "Quantification of the amount of 1-stearoyl-2-oleoyl-GPE (18:0/18:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800270 name: chiro-inositol measurement def: "Quantification of the amount of chiro-inositol in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800271 name: 1-stearoyl-2-arachidonoyl-GPC (18:0/20:4) measurement def: "Quantification of the amount of 1-stearoyl-2-arachidonoyl-GPC (18:0/20:4) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800272 name: 1-palmitoyl-2-linoleoyl-GPE (16:0/18:2) measurement def: "Quantification of the amount of 1-palmitoyl-2-linoleoyl-GPE (16:0/18:2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800273 name: 1-stearoyl-2-arachidonoyl-GPS (18:0/20:4) measurement def: "Quantification of the amount of 1-stearoyl-2-arachidonoyl-GPS (18:0/20:4) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800274 name: sphinganine-1-phosphate measurement def: "Quantification of the amount of sphinganine-1-phosphate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800275 name: glycosyl-N-stearoyl-sphingosine (d18:1/18:0) measurement def: "Quantification of the amount of glycosyl-N-stearoyl-sphingosine (d18:1/18:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800276 name: glycocholenate sulfate measurement def: "Quantification of the amount of glycocholenate sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800277 name: taurocholenate sulfate measurement def: "Quantification of the amount of taurocholenate sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800278 name: androstenediol (3beta,17beta) disulfate (1) measurement def: "Quantification of the amount of androstenediol (3beta,17beta) disulfate (1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800279 name: pregnenediol disulfate (C21H34O8S2) measurement def: "Quantification of the amount of pregnenediol disulfate (C21H34O8S2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800280 name: androstenediol (3beta,17beta) disulfate (2) measurement def: "Quantification of the amount of androstenediol (3beta,17beta) disulfate (2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800281 name: 21-hydroxypregnenolone disulfate measurement def: "Quantification of the amount of 21-hydroxypregnenolone disulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800282 name: 21-hydroxypregnenolone monosulfate (1) measurement def: "Quantification of the amount of 21-hydroxypregnenolone monosulfate (1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800283 name: 5alpha-androstan-3alpha,17alpha-diol monosulfate measurement def: "Quantification of the amount of 5alpha-androstan-3alpha,17alpha-diol monosulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800284 name: 5alpha-pregnan-3beta,20beta-diol monosulfate (1) measurement def: "Quantification of the amount of 5alpha-pregnan-3beta,20beta-diol monosulfate (1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800285 name: 5alpha-pregnan-3beta,20alpha-diol monosulfate (2) measurement def: "Quantification of the amount of 5alpha-pregnan-3beta,20alpha-diol monosulfate (2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800286 name: 5alpha-pregnan-diol disulfate measurement def: "Quantification of the amount of 5alpha-pregnan-diol disulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800287 name: 5alpha-androstan-3alpha,17beta-diol disulfate measurement def: "Quantification of the amount of 5alpha-androstan-3alpha,17beta-diol disulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800288 name: 5alpha-androstan-3alpha,17beta-diol monosulfate (1) measurement def: "Quantification of the amount of 5alpha-androstan-3alpha,17beta-diol monosulfate (1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800289 name: 5alpha-androstan-3beta,17alpha-diol disulfate measurement def: "Quantification of the amount of 5alpha-androstan-3beta,17alpha-diol disulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800290 name: 5alpha-androstan-3beta,17beta-diol monosulfate (1) measurement def: "Quantification of the amount of 5alpha-androstan-3beta,17beta-diol monosulfate (1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800291 name: 5alpha-androstan-3beta,17beta-diol monosulfate (2) measurement def: "Quantification of the amount of 5alpha-androstan-3beta,17beta-diol monosulfate (2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800292 name: androstenediol (3alpha, 17alpha) monosulfate (2) measurement def: "Quantification of the amount of androstenediol (3alpha, 17alpha) monosulfate (2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800293 name: androstenediol (3alpha, 17alpha) monosulfate (3) measurement def: "Quantification of the amount of androstenediol (3alpha, 17alpha) monosulfate (3) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800294 name: androstenediol (3beta,17beta) monosulfate (1) measurement def: "Quantification of the amount of androstenediol (3beta,17beta) monosulfate (1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800295 name: androstenediol (3beta,17beta) monosulfate (2) measurement def: "Quantification of the amount of androstenediol (3beta,17beta) monosulfate (2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800296 name: 1-docosahexaenoyl-GPE (22:6) measurement def: "Quantification of the amount of 1-docosahexaenoyl-GPE (22:6) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800297 name: 2-docosahexaenoyl-GPE (22:6) measurement def: "Quantification of the amount of 2-docosahexaenoyl-GPE (22:6) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800298 name: 1-docosapentaenoyl-GPC (22:5n3) measurement def: "Quantification of the amount of 1-docosapentaenoyl-GPC (22:5n3) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800299 name: pregnenediol sulfate (C21H34O5S) measurement def: "Quantification of the amount of pregnenediol sulfate (C21H34O5S) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800300 name: palmitoyl sphingomyelin (d18:1/16:0) measurement def: "Quantification of the amount of palmitoyl sphingomyelin (d18:1/16:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800301 name: 16a-hydroxy DHEA 3-sulfate measurement def: "Quantification of the amount of 16a-hydroxy DHEA 3-sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800302 name: 17alpha-hydroxypregnenolone 3-sulfate measurement def: "Quantification of the amount of 17alpha-hydroxypregnenolone 3-sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800303 name: pregnenolone sulfate measurement def: "Quantification of the amount of pregnenolone sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800304 name: 5-HEPE measurement def: "Quantification of the amount of 5-HEPE in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800305 name: andro steroid monosulfate C19H28O6S (1) measurement def: "Quantification of the amount of andro steroid monosulfate C19H28O6S (1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800306 name: 1-margaroyl-GPE (17:0) measurement def: "Quantification of the amount of 1-margaroyl-GPE (17:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800307 name: 1-pentadecanoyl-GPC (15:0) measurement def: "Quantification of the amount of 1-pentadecanoyl-GPC (15:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800308 name: 13-HODE + 9-HODE measurement def: "Quantification of the amount of 13-HODE + 9-HODE in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800309 name: tridecenedioate (C13:1-DC) measurement def: "Quantification of the amount of tridecenedioate (C13:1-DC) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800310 name: 4-cholesten-3-one measurement def: "Quantification of the amount of 4-cholesten-3-one in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800311 name: cis-4-decenoylcarnitine (C10:1) measurement def: "Quantification of the amount of cis-4-decenoylcarnitine (C10:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800312 name: 2s,3R-dihydroxybutyrate measurement def: "Quantification of the amount of 2s,3R-dihydroxybutyrate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800313 name: (16 or 17)-methylstearate (a19:0 or i19:0) measurement def: "Quantification of the amount of (16 or 17)-methylstearate (a19:0 or i19:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800314 name: 2R,3R-dihydroxybutyrate measurement def: "Quantification of the amount of 2R,3R-dihydroxybutyrate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800315 name: isoursodeoxycholate measurement def: "Quantification of the amount of isoursodeoxycholate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800316 name: 4-hydroxy-2-oxoglutaric acid measurement def: "Quantification of the amount of 4-hydroxy-2-oxoglutaric acid in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800317 name: androsterone glucuronide measurement def: "Quantification of the amount of androsterone glucuronide in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800318 name: cis-4-decenoate (10:1n6) measurement def: "Quantification of the amount of cis-4-decenoate (10:1n6) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800319 name: 1-meadoyl-GPC (20:3n9) measurement def: "Quantification of the amount of 1-meadoyl-GPC (20:3n9) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800320 name: 1-erucoyl-GPC (22:1) measurement def: "Quantification of the amount of 1-erucoyl-GPC (22:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800321 name: 1-adrenoyl-GPC (22:4) measurement def: "Quantification of the amount of 1-adrenoyl-GPC (22:4) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800322 name: 1-lignoceroyl-GPC (24:0) measurement def: "Quantification of the amount of 1-lignoceroyl-GPC (24:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800323 name: 1-(1-enyl-palmitoyl)-GPC (P-16:0) measurement def: "Quantification of the amount of 1-(1-enyl-palmitoyl)-GPC (P-16:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800324 name: 1-(1-enyl-oleoyl)-GPC (P-18:1) measurement def: "Quantification of the amount of 1-(1-enyl-oleoyl)-GPC (P-18:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800325 name: 1-(1-enyl-stearoyl)-GPC (P-18:0) measurement def: "Quantification of the amount of 1-(1-enyl-stearoyl)-GPC (P-18:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800326 name: glycoursodeoxycholate measurement def: "Quantification of the amount of glycoursodeoxycholate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800327 name: tauroursodeoxycholate measurement def: "Quantification of the amount of tauroursodeoxycholate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800328 name: ursocholate measurement def: "Quantification of the amount of ursocholate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800329 name: (14 or 15)-methylpalmitate (a17:0 or i17:0) measurement def: "Quantification of the amount of (14 or 15)-methylpalmitate (a17:0 or i17:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800330 name: eicosanedioate (C20-DC) measurement def: "Quantification of the amount of eicosanedioate (C20-DC) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800331 name: docosadioate (C22-DC) measurement def: "Quantification of the amount of docosadioate (C22-DC) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800332 name: oleoyl-linoleoyl-glycerol (18:1/18:2) [1] measurement def: "Quantification of the amount of oleoyl-linoleoyl-glycerol (18:1/18:2) [1] in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800333 name: oleoyl-linoleoyl-glycerol (18:1/18:2) [2] measurement def: "Quantification of the amount of oleoyl-linoleoyl-glycerol (18:1/18:2) [2] in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800334 name: 1-(1-enyl-palmitoyl)-GPE (P-16:0) measurement def: "Quantification of the amount of 1-(1-enyl-palmitoyl)-GPE (P-16:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800335 name: 1-(1-enyl-stearoyl)-GPE (P-18:0) measurement def: "Quantification of the amount of 1-(1-enyl-stearoyl)-GPE (P-18:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800336 name: 2-stearoyl-GPI (18:0) measurement def: "Quantification of the amount of 2-stearoyl-GPI (18:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800337 name: N-oleoyltaurine measurement def: "Quantification of the amount of N-oleoyltaurine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800338 name: linoleoylcarnitine (C18:2) measurement def: "Quantification of the amount of linoleoylcarnitine (C18:2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800339 name: N-palmitoyltaurine measurement def: "Quantification of the amount of N-palmitoyltaurine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800340 name: N-stearoyltaurine measurement def: "Quantification of the amount of N-stearoyltaurine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800341 name: pregnanediol-3-glucuronide measurement def: "Quantification of the amount of pregnanediol-3-glucuronide in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800342 name: N-palmitoylglycine measurement def: "Quantification of the amount of N-palmitoylglycine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800343 name: 2-stearoyl-GPE (18:0) measurement def: "Quantification of the amount of 2-stearoyl-GPE (18:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800344 name: (R)-3-hydroxybutyrylcarnitine measurement def: "Quantification of the amount of (R)-3-hydroxybutyrylcarnitine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800345 name: margaroylcarnitine (C17) measurement def: "Quantification of the amount of margaroylcarnitine (C17) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800346 name: glycohyocholate measurement def: "Quantification of the amount of glycohyocholate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800347 name: 2-hydroxydecanoate measurement def: "Quantification of the amount of 2-hydroxydecanoate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800348 name: 3b-hydroxy-5-cholenoic acid measurement def: "Quantification of the amount of 3b-hydroxy-5-cholenoic acid in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800349 name: 2-aminooctanoate measurement def: "Quantification of the amount of 2-aminooctanoate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800350 name: 1-stearoyl-GPS (18:0) measurement def: "Quantification of the amount of 1-stearoyl-GPS (18:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800351 name: 3-hydroxyadipate measurement def: "Quantification of the amount of 3-hydroxyadipate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800352 name: 2-aminoheptanoate measurement def: "Quantification of the amount of 2-aminoheptanoate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800353 name: 1-eicosapentaenoyl-GPE (20:5) measurement def: "Quantification of the amount of 1-eicosapentaenoyl-GPE (20:5) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800354 name: 1-linolenoyl-GPC (18:3) measurement def: "Quantification of the amount of 1-linolenoyl-GPC (18:3) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800355 name: 1-eicosapentaenoyl-GPC (20:5) measurement def: "Quantification of the amount of 1-eicosapentaenoyl-GPC (20:5) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800356 name: 1-eicosenoyl-GPC (20:1) measurement def: "Quantification of the amount of 1-eicosenoyl-GPC (20:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800357 name: 1-nonadecanoyl-GPC (19:0) measurement def: "Quantification of the amount of 1-nonadecanoyl-GPC (19:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800358 name: 1-dihomo-linolenoyl-GPE (20:3n3 or 6) measurement def: "Quantification of the amount of 1-dihomo-linolenoyl-GPE (20:3n3 or 6) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800359 name: 1-(1-enyl-oleoyl)-GPE (P-18:1) measurement def: "Quantification of the amount of 1-(1-enyl-oleoyl)-GPE (P-18:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800360 name: 5alpha-androstan-3alpha,17beta-diol 17-glucuronide measurement def: "Quantification of the amount of 5alpha-androstan-3alpha,17beta-diol 17-glucuronide in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800361 name: 11-ketoetiocholanolone glucuronide measurement def: "Quantification of the amount of 11-ketoetiocholanolone glucuronide in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800362 name: etiocholanolone glucuronide measurement def: "Quantification of the amount of etiocholanolone glucuronide in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800363 name: 17alpha-hydroxypregnanolone glucuronide measurement def: "Quantification of the amount of 17alpha-hydroxypregnanolone glucuronide in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800364 name: 1-docosapentaenoyl-GPC (22:5n6) measurement def: "Quantification of the amount of 1-docosapentaenoyl-GPC (22:5n6) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800365 name: 1-linolenoyl-GPE (18:3) measurement def: "Quantification of the amount of 1-linolenoyl-GPE (18:3) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800366 name: 1-oleoyl-GPG (18:1) measurement def: "Quantification of the amount of 1-oleoyl-GPG (18:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800367 name: 1-palmitoyl-GPG (16:0) measurement def: "Quantification of the amount of 1-palmitoyl-GPG (16:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800368 name: N-linoleoyltaurine measurement def: "Quantification of the amount of N-linoleoyltaurine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800369 name: 9-hydroxystearate measurement def: "Quantification of the amount of 9-hydroxystearate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800370 name: octadecenedioylcarnitine (C18:1-DC) measurement def: "Quantification of the amount of octadecenedioylcarnitine (C18:1-DC) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800371 name: octadecanedioylcarnitine (C18-DC) measurement def: "Quantification of the amount of octadecanedioylcarnitine (C18-DC) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800372 name: 5alpha-androstan-3alpha,17beta-diol monosulfate (2) measurement def: "Quantification of the amount of 5alpha-androstan-3alpha,17beta-diol monosulfate (2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800373 name: myristoleoylcarnitine (C14:1) measurement def: "Quantification of the amount of myristoleoylcarnitine (C14:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800374 name: 1-dihomo-linolenylglycerol (20:3) measurement def: "Quantification of the amount of 1-dihomo-linolenylglycerol (20:3) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800375 name: pregnanolone sulfate measurement def: "Quantification of the amount of pregnanolone sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800376 name: behenoyl sphingomyelin (d18:1/22:0) measurement def: "Quantification of the amount of behenoyl sphingomyelin (d18:1/22:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800377 name: lignoceroyl sphingomyelin (d18:1/24:0) measurement def: "Quantification of the amount of lignoceroyl sphingomyelin (d18:1/24:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800378 name: 3-hydroxyhexanoate measurement def: "Quantification of the amount of 3-hydroxyhexanoate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800379 name: 3beta-hydroxy-5-cholestenoate measurement def: "Quantification of the amount of 3beta-hydroxy-5-cholestenoate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800380 name: adipoylcarnitine (C6-DC) measurement def: "Quantification of the amount of adipoylcarnitine (C6-DC) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800381 name: nonanoylcarnitine (C9) measurement def: "Quantification of the amount of nonanoylcarnitine (C9) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800382 name: suberoylcarnitine (C8-DC) measurement def: "Quantification of the amount of suberoylcarnitine (C8-DC) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800383 name: deoxycholic acid 3-sulfate measurement def: "Quantification of the amount of deoxycholic acid 3-sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800384 name: glycochenodeoxycholate 3-sulfate measurement def: "Quantification of the amount of glycochenodeoxycholate 3-sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800385 name: glycodeoxycholate 3-sulfate measurement def: "Quantification of the amount of glycodeoxycholate 3-sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800386 name: taurodeoxycholic acid 3-sulfate measurement def: "Quantification of the amount of taurodeoxycholic acid 3-sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800387 name: linoleoyl ethanolamide measurement def: "Quantification of the amount of linoleoyl ethanolamide in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800388 name: 1,2-dilinoleoyl-GPC (18:2/18:2) measurement def: "Quantification of the amount of 1,2-dilinoleoyl-GPC (18:2/18:2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800389 name: 1-stearoyl-2-oleoyl-GPC (18:0/18:1) measurement def: "Quantification of the amount of 1-stearoyl-2-oleoyl-GPC (18:0/18:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800390 name: 1-palmitoyl-2-arachidonoyl-GPC (16:0/20:4n6) measurement def: "Quantification of the amount of 1-palmitoyl-2-arachidonoyl-GPC (16:0/20:4n6) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800391 name: 1-palmitoyl-2-docosahexaenoyl-GPC (16:0/22:6) measurement def: "Quantification of the amount of 1-palmitoyl-2-docosahexaenoyl-GPC (16:0/22:6) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800392 name: 1-stearoyl-2-docosahexaenoyl-GPC (18:0/22:6) measurement def: "Quantification of the amount of 1-stearoyl-2-docosahexaenoyl-GPC (18:0/22:6) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800393 name: 1-(1-enyl-stearoyl)-2-oleoyl-GPC (P-18:0/18:1) measurement def: "Quantification of the amount of 1-(1-enyl-stearoyl)-2-oleoyl-GPC (P-18:0/18:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800394 name: 1-(1-enyl-stearoyl)-2-arachidonoyl-GPC (P-18:0/20:4) measurement def: "Quantification of the amount of 1-(1-enyl-stearoyl)-2-arachidonoyl-GPC (P-18:0/20:4) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800395 name: 1-(1-enyl-stearoyl)-2-oleoyl-GPE (P-18:0/18:1) measurement def: "Quantification of the amount of 1-(1-enyl-stearoyl)-2-oleoyl-GPE (P-18:0/18:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800396 name: 1-palmitoyl-2-stearoyl-GPC (16:0/18:0) measurement def: "Quantification of the amount of 1-palmitoyl-2-stearoyl-GPC (16:0/18:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800397 name: vaccenate (18:1) measurement def: "Quantification of the amount of vaccenate (18:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800398 name: 1-palmitoleoylglycerol (16:1) measurement def: "Quantification of the amount of 1-palmitoleoylglycerol (16:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800399 name: 2-palmitoleoylglycerol (16:1) measurement def: "Quantification of the amount of 2-palmitoleoylglycerol (16:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800400 name: palmitoyl dihydrosphingomyelin (d18:0/16:0) measurement def: "Quantification of the amount of palmitoyl dihydrosphingomyelin (d18:0/16:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800401 name: tricosanoyl sphingomyelin (d18:1/23:0) measurement def: "Quantification of the amount of tricosanoyl sphingomyelin (d18:1/23:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800402 name: 1-stearoyl-2-linoleoyl-GPE (18:0/18:2) measurement def: "Quantification of the amount of 1-stearoyl-2-linoleoyl-GPE (18:0/18:2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800403 name: 1-stearoyl-2-arachidonoyl-GPE (18:0/20:4) measurement def: "Quantification of the amount of 1-stearoyl-2-arachidonoyl-GPE (18:0/20:4) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800404 name: 1-stearoyl-2-linoleoyl-GPC (18:0/18:2) measurement def: "Quantification of the amount of 1-stearoyl-2-linoleoyl-GPC (18:0/18:2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800405 name: 1-oleoyl-2-linoleoyl-GPC (18:1/18:2) measurement def: "Quantification of the amount of 1-oleoyl-2-linoleoyl-GPC (18:1/18:2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800406 name: 1-palmitoyl-2-palmitoleoyl-GPC(16:0/16:1) measurement def: "Quantification of the amount of 1-palmitoyl-2-palmitoleoyl-GPC(16:0/16:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800407 name: 1-palmitoyl-2-dihomo-linolenoyl-GPC (16:0/20:3n3 or 6) measurement def: "Quantification of the amount of 1-palmitoyl-2-dihomo-linolenoyl-GPC (16:0/20:3n3 or 6) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800408 name: 1-palmitoyl-2-eicosapentaenoyl-GPC (16:0/20:5) measurement def: "Quantification of the amount of 1-palmitoyl-2-eicosapentaenoyl-GPC (16:0/20:5) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800409 name: 1-palmitoyl-2-arachidonoyl-GPE (16:0/20:4) measurement def: "Quantification of the amount of 1-palmitoyl-2-arachidonoyl-GPE (16:0/20:4) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800410 name: 1-palmitoyl-2-docosahexaenoyl-GPE (16:0/22:6) measurement def: "Quantification of the amount of 1-palmitoyl-2-docosahexaenoyl-GPE (16:0/22:6) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800411 name: 1-stearoyl-2-docosahexaenoyl-GPE (18:0/22:6) measurement def: "Quantification of the amount of 1-stearoyl-2-docosahexaenoyl-GPE (18:0/22:6) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800412 name: 1-palmitoyl-2-arachidonoyl-GPI (16:0/20:4) measurement def: "Quantification of the amount of 1-palmitoyl-2-arachidonoyl-GPI (16:0/20:4) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800413 name: 1-stearoyl-2-linoleoyl-GPI (18:0/18:2) measurement def: "Quantification of the amount of 1-stearoyl-2-linoleoyl-GPI (18:0/18:2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800414 name: 1-palmitoyl-2-palmitoleoyl-GPE (16:0/16:1) measurement def: "Quantification of the amount of 1-palmitoyl-2-palmitoleoyl-GPE (16:0/16:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800415 name: 1-(1-enyl-stearoyl)-2-arachidonoyl-GPE (P-18:0/20:4) measurement def: "Quantification of the amount of 1-(1-enyl-stearoyl)-2-arachidonoyl-GPE (P-18:0/20:4) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800416 name: 1-(1-enyl-palmitoyl)-2-docosahexaenoyl-GPE (P-16:0/22:6) measurement def: "Quantification of the amount of 1-(1-enyl-palmitoyl)-2-docosahexaenoyl-GPE (P-16:0/22:6) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800417 name: 1-(1-enyl-palmitoyl)-2-arachidonoyl-GPE (P-16:0/20:4) measurement def: "Quantification of the amount of 1-(1-enyl-palmitoyl)-2-arachidonoyl-GPE (P-16:0/20:4) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800418 name: 1-(1-enyl-stearoyl)-2-docosahexaenoyl-GPE (P-18:0/22:6) measurement def: "Quantification of the amount of 1-(1-enyl-stearoyl)-2-docosahexaenoyl-GPE (P-18:0/22:6) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800419 name: 1-(1-enyl-palmitoyl)-2-oleoyl-GPE (P-16:0/18:1) measurement def: "Quantification of the amount of 1-(1-enyl-palmitoyl)-2-oleoyl-GPE (P-16:0/18:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800420 name: 1-(1-enyl-palmitoyl)-2-oleoyl-GPC (P-16:0/18:1) measurement def: "Quantification of the amount of 1-(1-enyl-palmitoyl)-2-oleoyl-GPC (P-16:0/18:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800421 name: 1-(1-enyl-palmitoyl)-2-docosahexaenoyl-GPC (P-16:0/22:6) measurement def: "Quantification of the amount of 1-(1-enyl-palmitoyl)-2-docosahexaenoyl-GPC (P-16:0/22:6) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800422 name: 1-(1-enyl-palmitoyl)-2-linoleoyl-GPC (P-16:0/18:2) measurement def: "Quantification of the amount of 1-(1-enyl-palmitoyl)-2-linoleoyl-GPC (P-16:0/18:2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800423 name: 1-(1-enyl-palmitoyl)-2-arachidonoyl-GPC (P-16:0/20:4) measurement def: "Quantification of the amount of 1-(1-enyl-palmitoyl)-2-arachidonoyl-GPC (P-16:0/20:4) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800424 name: 1-(1-enyl-stearoyl)-2-docosahexaenoyl-GPC (P-18:0/22:6) measurement def: "Quantification of the amount of 1-(1-enyl-stearoyl)-2-docosahexaenoyl-GPC (P-18:0/22:6) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800425 name: 1-palmityl-2-oleoyl-GPC (O-16:0/18:1) measurement def: "Quantification of the amount of 1-palmityl-2-oleoyl-GPC (O-16:0/18:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800426 name: 1-palmityl-2-arachidonoyl-GPC (O-16:0/20:4) measurement def: "Quantification of the amount of 1-palmityl-2-arachidonoyl-GPC (O-16:0/20:4) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800427 name: behenoyl dihydrosphingomyelin (d18:0/22:0) measurement def: "Quantification of the amount of behenoyl dihydrosphingomyelin (d18:0/22:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800428 name: N-palmitoyl-sphinganine (d18:0/16:0) measurement def: "Quantification of the amount of N-palmitoyl-sphinganine (d18:0/16:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800429 name: lactosyl-N-palmitoyl-sphingosine (d18:1/16:0) measurement def: "Quantification of the amount of lactosyl-N-palmitoyl-sphingosine (d18:1/16:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800430 name: 1-pentadecanoyl-2-linoleoyl-GPC (15:0/18:2) measurement def: "Quantification of the amount of 1-pentadecanoyl-2-linoleoyl-GPC (15:0/18:2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800431 name: 1-margaroyl-2-oleoyl-GPC (17:0/18:1) measurement def: "Quantification of the amount of 1-margaroyl-2-oleoyl-GPC (17:0/18:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800432 name: 1-margaroyl-2-linoleoyl-GPC (17:0/18:2) measurement def: "Quantification of the amount of 1-margaroyl-2-linoleoyl-GPC (17:0/18:2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800433 name: myristoyl dihydrosphingomyelin (d18:0/14:0) measurement def: "Quantification of the amount of myristoyl dihydrosphingomyelin (d18:0/14:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800434 name: 1-stearoyl-2-dihomo-linolenoyl-GPC (18:0/20:3n3 or 6) measurement def: "Quantification of the amount of 1-stearoyl-2-dihomo-linolenoyl-GPC (18:0/20:3n3 or 6) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800435 name: palmitoyl-linoleoyl-glycerol (16:0/18:2) [1] measurement def: "Quantification of the amount of palmitoyl-linoleoyl-glycerol (16:0/18:2) [1] in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800436 name: palmitoleoyl-oleoyl-glycerol (16:1/18:1) [1] measurement def: "Quantification of the amount of palmitoleoyl-oleoyl-glycerol (16:1/18:1) [1] in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800437 name: palmitoleoyl-oleoyl-glycerol (16:1/18:1) [2] measurement def: "Quantification of the amount of palmitoleoyl-oleoyl-glycerol (16:1/18:1) [2] in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800438 name: palmitoyl-linoleoyl-glycerol (16:0/18:2) [2] measurement def: "Quantification of the amount of palmitoyl-linoleoyl-glycerol (16:0/18:2) [2] in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800439 name: 1-palmitoyl-2-oleoyl-GPI (16:0/18:1) measurement def: "Quantification of the amount of 1-palmitoyl-2-oleoyl-GPI (16:0/18:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800440 name: 1-(1-enyl-palmitoyl)-2-linoleoyl-GPE (P-16:0/18:2) measurement def: "Quantification of the amount of 1-(1-enyl-palmitoyl)-2-linoleoyl-GPE (P-16:0/18:2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800441 name: 1-palmitoleoyl-2-linoleoyl-GPC (16:1/18:2) measurement def: "Quantification of the amount of 1-palmitoleoyl-2-linoleoyl-GPC (16:1/18:2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800442 name: 1-palmitoyl-2-alpha-linolenoyl-GPC (16:0/18:3n3) measurement def: "Quantification of the amount of 1-palmitoyl-2-alpha-linolenoyl-GPC (16:0/18:3n3) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800443 name: 1-oleoyl-2-linoleoyl-GPE (18:1/18:2) measurement def: "Quantification of the amount of 1-oleoyl-2-linoleoyl-GPE (18:1/18:2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800444 name: 1-palmitoyl-2-dihomo-linolenoyl-GPE (16:0/20:3) measurement def: "Quantification of the amount of 1-palmitoyl-2-dihomo-linolenoyl-GPE (16:0/20:3) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800445 name: 1-linoleoyl-GPA (18:2) measurement def: "Quantification of the amount of 1-linoleoyl-GPA (18:2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800446 name: 1-pentadecanoyl-2-arachidonoyl-GPC (15:0/20:4) measurement def: "Quantification of the amount of 1-pentadecanoyl-2-arachidonoyl-GPC (15:0/20:4) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800447 name: 1-pentadecanoyl-2-docosahexaenoyl-GPC (15:0/22:6) measurement def: "Quantification of the amount of 1-pentadecanoyl-2-docosahexaenoyl-GPC (15:0/22:6) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800448 name: 1-margaroyl-2-docosahexaenoyl-GPC (17:0/22:6) measurement def: "Quantification of the amount of 1-margaroyl-2-docosahexaenoyl-GPC (17:0/22:6) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800449 name: 1-oleoyl-2-docosahexaenoyl-GPC (18:1/22:6) measurement def: "Quantification of the amount of 1-oleoyl-2-docosahexaenoyl-GPC (18:1/22:6) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800450 name: 1-linoleoyl-2-arachidonoyl-GPC (18:2/20:4n6) measurement def: "Quantification of the amount of 1-linoleoyl-2-arachidonoyl-GPC (18:2/20:4n6) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800451 name: 1-(1-enyl-stearoyl)-2-linoleoyl-GPC (P-18:0/18:2) measurement def: "Quantification of the amount of 1-(1-enyl-stearoyl)-2-linoleoyl-GPC (P-18:0/18:2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800452 name: 1-myristoyl-2-linoleoyl-GPC (14:0/18:2) measurement def: "Quantification of the amount of 1-myristoyl-2-linoleoyl-GPC (14:0/18:2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800453 name: 1-myristoyl-2-arachidonoyl-GPC (14:0/20:4) measurement def: "Quantification of the amount of 1-myristoyl-2-arachidonoyl-GPC (14:0/20:4) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800454 name: 1-myristoyl-2-docosahexaenoyl-GPC (14:0/22:6) measurement def: "Quantification of the amount of 1-myristoyl-2-docosahexaenoyl-GPC (14:0/22:6) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800455 name: 1-stearoyl-2-docosapentaenoyl-GPC (18:0/22:5n3) measurement def: "Quantification of the amount of 1-stearoyl-2-docosapentaenoyl-GPC (18:0/22:5n3) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800456 name: 1-stearoyl-2-docosapentaenoyl-GPC (18:0/22:5n6) measurement def: "Quantification of the amount of 1-stearoyl-2-docosapentaenoyl-GPC (18:0/22:5n6) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800457 name: 1-palmitoyl-2-adrenoyl-GPC (16:0/22:4) measurement def: "Quantification of the amount of 1-palmitoyl-2-adrenoyl-GPC (16:0/22:4) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800458 name: 1-palmitoyl-2-meadoyl-GPC (16:0/20:3n9) measurement def: "Quantification of the amount of 1-palmitoyl-2-meadoyl-GPC (16:0/20:3n9) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800459 name: 1-stearoyl-2-adrenoyl-GPC (18:0/22:4) measurement def: "Quantification of the amount of 1-stearoyl-2-adrenoyl-GPC (18:0/22:4) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800460 name: 1-stearyl-GPC (O-18:0) measurement def: "Quantification of the amount of 1-stearyl-GPC (O-18:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800461 name: 1-oleoyl-2-dihomo-linolenoyl-GPC (18:1/20:3) measurement def: "Quantification of the amount of 1-oleoyl-2-dihomo-linolenoyl-GPC (18:1/20:3) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800462 name: 1-oleoyl-2-eicosapentaenoyl-GPC (18:1/20:5) measurement def: "Quantification of the amount of 1-oleoyl-2-eicosapentaenoyl-GPC (18:1/20:5) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800463 name: 1-stearoyl-2-meadoyl-GPC (18:0/20:3n9) measurement def: "Quantification of the amount of 1-stearoyl-2-meadoyl-GPC (18:0/20:3n9) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800464 name: 1-(1-enyl-palmitoyl)-2-palmitoleoyl-GPC (P-16:0/16:1) measurement def: "Quantification of the amount of 1-(1-enyl-palmitoyl)-2-palmitoleoyl-GPC (P-16:0/16:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800465 name: 1-(1-enyl-palmitoyl)-2-myristoyl-GPC (P-16:0/14:0) measurement def: "Quantification of the amount of 1-(1-enyl-palmitoyl)-2-myristoyl-GPC (P-16:0/14:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800466 name: 1-(1-enyl-palmitoyl)-2-palmitoyl-GPC (P-16:0/16:0) measurement def: "Quantification of the amount of 1-(1-enyl-palmitoyl)-2-palmitoyl-GPC (P-16:0/16:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800467 name: phosphatidylcholine (16:0/22:5n3, 18:1/20:4) measurement def: "Quantification of the amount of phosphatidylcholine (16:0/22:5n3, 18:1/20:4) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800468 name: phosphatidylcholine (18:0/20:5, 16:0/22:5n6) measurement def: "Quantification of the amount of phosphatidylcholine (18:0/20:5, 16:0/22:5n6) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800469 name: 1-stearoyl-2-oleoyl-GPI (18:0/18:1) measurement def: "Quantification of the amount of 1-stearoyl-2-oleoyl-GPI (18:0/18:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800470 name: 1-oleoyl-2-arachidonoyl-GPE (18:1/20:4) measurement def: "Quantification of the amount of 1-oleoyl-2-arachidonoyl-GPE (18:1/20:4) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800471 name: 1-oleoyl-2-docosahexaenoyl-GPE (18:1/22:6) measurement def: "Quantification of the amount of 1-oleoyl-2-docosahexaenoyl-GPE (18:1/22:6) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800472 name: 1-linoleoyl-GPG (18:2) measurement def: "Quantification of the amount of 1-linoleoyl-GPG (18:2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800473 name: palmitoylcholine measurement def: "Quantification of the amount of palmitoylcholine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800474 name: glycochenodeoxycholate glucuronide (1) measurement def: "Quantification of the amount of glycochenodeoxycholate glucuronide (1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800475 name: (S)-3-hydroxybutyrylcarnitine measurement def: "Quantification of the amount of (S)-3-hydroxybutyrylcarnitine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800476 name: glycosyl-N-palmitoyl-sphingosine (d18:1/16:0) measurement def: "Quantification of the amount of glycosyl-N-palmitoyl-sphingosine (d18:1/16:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800477 name: oleoylcholine measurement def: "Quantification of the amount of oleoylcholine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800478 name: arachidonoylcholine measurement def: "Quantification of the amount of arachidonoylcholine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800479 name: docosahexaenoylcholine measurement def: "Quantification of the amount of docosahexaenoylcholine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800480 name: palmitoloelycholine measurement def: "Quantification of the amount of palmitoloelycholine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800481 name: dihomo-linolenoyl-choline measurement def: "Quantification of the amount of dihomo-linolenoyl-choline in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800482 name: eicosapentaenoylcholine measurement def: "Quantification of the amount of eicosapentaenoylcholine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800483 name: 1-linoleoyl-2-linolenoyl-GPC (18:2/18:3) measurement def: "Quantification of the amount of 1-linoleoyl-2-linolenoyl-GPC (18:2/18:3) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800484 name: 1-palmitoleoyl-2-linolenoyl-GPC (16:1/18:3) measurement def: "Quantification of the amount of 1-palmitoleoyl-2-linolenoyl-GPC (16:1/18:3) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800485 name: phosphatidylcholine (14:0/14:0, 16:0/12:0) measurement def: "Quantification of the amount of phosphatidylcholine (14:0/14:0, 16:0/12:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800486 name: phosphatidylcholine (15:0/18:1, 17:0/16:1, 16:0/17:1) measurement def: "Quantification of the amount of phosphatidylcholine (15:0/18:1, 17:0/16:1, 16:0/17:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800487 name: 1-oleoyl-2-docosapentaenoyl-GPC (18:1/22:5n3) measurement def: "Quantification of the amount of 1-oleoyl-2-docosapentaenoyl-GPC (18:1/22:5n3) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800488 name: phosphatidylcholine (18:0/20:2, 20:0/18:2) measurement def: "Quantification of the amount of phosphatidylcholine (18:0/20:2, 20:0/18:2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800489 name: 1-linoleoyl-2-docosapentaenyol-GPC (18:2/22:5n3) measurement def: "Quantification of the amount of 1-linoleoyl-2-docosapentaenyol-GPC (18:2/22:5n3) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800490 name: 1-(1-enyl-oleoyl)-2-docosahexaenoyl-GPE (P-18:1/22:6) measurement def: "Quantification of the amount of 1-(1-enyl-oleoyl)-2-docosahexaenoyl-GPE (P-18:1/22:6) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800491 name: hexadecadienoate (16:2n6) measurement def: "Quantification of the amount of hexadecadienoate (16:2n6) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800492 name: 1-myristoyl-2-eicosapentaenoyl-GPC (14:0/20:5) measurement def: "Quantification of the amount of 1-myristoyl-2-eicosapentaenoyl-GPC (14:0/20:5) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800493 name: palmitoleoylcarnitine (C16:1) measurement def: "Quantification of the amount of palmitoleoylcarnitine (C16:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800494 name: pimeloylcarnitine/3-methyladipoylcarnitine (C7-DC) measurement def: "Quantification of the amount of pimeloylcarnitine/3-methyladipoylcarnitine (C7-DC) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800495 name: palmitoyl-oleoyl-glycerol (16:0/18:1) [1] measurement def: "Quantification of the amount of palmitoyl-oleoyl-glycerol (16:0/18:1) [1] in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800496 name: palmitoyl-oleoyl-glycerol (16:0/18:1) [2] measurement def: "Quantification of the amount of palmitoyl-oleoyl-glycerol (16:0/18:1) [2] in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800497 name: oleoyl-oleoyl-glycerol (18:1/18:1) [1] measurement def: "Quantification of the amount of oleoyl-oleoyl-glycerol (18:1/18:1) [1] in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800498 name: oleoyl-oleoyl-glycerol (18:1/18:1) [2] measurement def: "Quantification of the amount of oleoyl-oleoyl-glycerol (18:1/18:1) [2] in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800499 name: linoleoyl-arachidonoyl-glycerol (18:2/20:4) [1] measurement def: "Quantification of the amount of linoleoyl-arachidonoyl-glycerol (18:2/20:4) [1] in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800500 name: linoleoyl-arachidonoyl-glycerol (18:2/20:4) [2] measurement def: "Quantification of the amount of linoleoyl-arachidonoyl-glycerol (18:2/20:4) [2] in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800501 name: linoleoyl-linolenoyl-glycerol (18:2/18:3) [2] measurement def: "Quantification of the amount of linoleoyl-linolenoyl-glycerol (18:2/18:3) [2] in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800502 name: linoleoyl-docosahexaenoyl-glycerol (18:2/22:6) [1] measurement def: "Quantification of the amount of linoleoyl-docosahexaenoyl-glycerol (18:2/22:6) [1] in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800503 name: linoleoyl-docosahexaenoyl-glycerol (18:2/22:6) [2] measurement def: "Quantification of the amount of linoleoyl-docosahexaenoyl-glycerol (18:2/22:6) [2] in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800504 name: palmitoleoyl-linoleoyl-glycerol (16:1/18:2) [1] measurement def: "Quantification of the amount of palmitoleoyl-linoleoyl-glycerol (16:1/18:2) [1] in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800505 name: diacylglycerol (14:0/18:1, 16:0/16:1) [1] measurement def: "Quantification of the amount of diacylglycerol (14:0/18:1, 16:0/16:1) [1] in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800506 name: diacylglycerol (14:0/18:1, 16:0/16:1) [2] measurement def: "Quantification of the amount of diacylglycerol (14:0/18:1, 16:0/16:1) [2] in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800507 name: oleoyl-arachidonoyl-glycerol (18:1/20:4) [1] measurement def: "Quantification of the amount of oleoyl-arachidonoyl-glycerol (18:1/20:4) [1] in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800508 name: oleoyl-arachidonoyl-glycerol (18:1/20:4) [2] measurement def: "Quantification of the amount of oleoyl-arachidonoyl-glycerol (18:1/20:4) [2] in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800509 name: diacylglycerol (16:1/18:2 [2], 16:0/18:3 [1]) measurement def: "Quantification of the amount of diacylglycerol (16:1/18:2 [2], 16:0/18:3 [1]) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800510 name: linoleoyl-linoleoyl-glycerol (18:2/18:2) [1] measurement def: "Quantification of the amount of linoleoyl-linoleoyl-glycerol (18:2/18:2) [1] in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800511 name: stearoyl-arachidonoyl-glycerol (18:0/20:4) [1] measurement def: "Quantification of the amount of stearoyl-arachidonoyl-glycerol (18:0/20:4) [1] in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800512 name: diacylglycerol (12:0/18:1, 14:0/16:1, 16:0/14:1) [1] measurement def: "Quantification of the amount of diacylglycerol (12:0/18:1, 14:0/16:1, 16:0/14:1) [1] in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800513 name: diacylglycerol (12:0/18:1, 14:0/16:1, 16:0/14:1) [2] measurement def: "Quantification of the amount of diacylglycerol (12:0/18:1, 14:0/16:1, 16:0/14:1) [2] in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800514 name: 1-palmityl-GPE (O-16:0) measurement def: "Quantification of the amount of 1-palmityl-GPE (O-16:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800515 name: 1-palmityl-2-palmitoyl-GPC (O-16:0/16:0) measurement def: "Quantification of the amount of 1-palmityl-2-palmitoyl-GPC (O-16:0/16:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800516 name: N-palmitoyl-sphingadienine (d18:2/16:0) measurement def: "Quantification of the amount of N-palmitoyl-sphingadienine (d18:2/16:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800517 name: lactosyl-N-nervonoyl-sphingosine (d18:1/24:1) measurement def: "Quantification of the amount of lactosyl-N-nervonoyl-sphingosine (d18:1/24:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800518 name: lactosyl-N-behenoyl-sphingosine (d18:1/22:0) measurement def: "Quantification of the amount of lactosyl-N-behenoyl-sphingosine (d18:1/22:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800519 name: N-behenoyl-sphingadienine (d18:2/22:0) measurement def: "Quantification of the amount of N-behenoyl-sphingadienine (d18:2/22:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800520 name: glycosyl-N-behenoyl-sphingadienine (d18:2/22:0) measurement def: "Quantification of the amount of glycosyl-N-behenoyl-sphingadienine (d18:2/22:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800521 name: N-stearoyl-sphingadienine (d18:2/18:0) measurement def: "Quantification of the amount of N-stearoyl-sphingadienine (d18:2/18:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800522 name: 2-hydroxybehenate measurement def: "Quantification of the amount of 2-hydroxybehenate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800523 name: 2-hydroxynervonate measurement def: "Quantification of the amount of 2-hydroxynervonate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800524 name: N-palmitoylserine measurement def: "Quantification of the amount of N-palmitoylserine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800525 name: N-oleoylserine measurement def: "Quantification of the amount of N-oleoylserine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800526 name: sphingadienine measurement def: "Quantification of the amount of sphingadienine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800527 name: myristoyl-linoleoyl-glycerol (14:0/18:2) [1] measurement def: "Quantification of the amount of myristoyl-linoleoyl-glycerol (14:0/18:2) [1] in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800528 name: myristoyl-linoleoyl-glycerol (14:0/18:2) [2] measurement def: "Quantification of the amount of myristoyl-linoleoyl-glycerol (14:0/18:2) [2] in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800529 name: hexadecasphingosine (d16:1) measurement def: "Quantification of the amount of hexadecasphingosine (d16:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800530 name: glycosyl ceramide (d16:1/24:1, d18:1/22:1) measurement def: "Quantification of the amount of glycosyl ceramide (d16:1/24:1, d18:1/22:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800531 name: N-palmitoyl-heptadecasphingosine (d17:1/16:0) measurement def: "Quantification of the amount of N-palmitoyl-heptadecasphingosine (d17:1/16:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800532 name: glycosyl ceramide (d18:2/24:1, d18:1/24:2) measurement def: "Quantification of the amount of glycosyl ceramide (d18:2/24:1, d18:1/24:2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800533 name: glycosyl-N-(2-hydroxynervonoyl)-sphingosine (d18:1/24:1(2OH)) measurement def: "Quantification of the amount of glycosyl-N-(2-hydroxynervonoyl)-sphingosine (d18:1/24:1(2OH)) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800534 name: stearoylcholine measurement def: "Quantification of the amount of stearoylcholine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800535 name: linoleoylcholine measurement def: "Quantification of the amount of linoleoylcholine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800536 name: nisinate (24:6n3) measurement def: "Quantification of the amount of nisinate (24:6n3) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800537 name: heneicosapentaenoate (21:5n3) measurement def: "Quantification of the amount of heneicosapentaenoate (21:5n3) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800538 name: linolenoylcarnitine (C18:3) measurement def: "Quantification of the amount of linolenoylcarnitine (C18:3) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800539 name: behenoylcarnitine (C22) measurement def: "Quantification of the amount of behenoylcarnitine (C22) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800540 name: arachidoylcarnitine (C20) measurement def: "Quantification of the amount of arachidoylcarnitine (C20) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800541 name: lignoceroylcarnitine (C24) measurement def: "Quantification of the amount of lignoceroylcarnitine (C24) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800542 name: cerotoylcarnitine (C26) measurement def: "Quantification of the amount of cerotoylcarnitine (C26) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800543 name: ximenoylcarnitine (C26:1) measurement def: "Quantification of the amount of ximenoylcarnitine (C26:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800544 name: arachidonoylcarnitine (C20:4) measurement def: "Quantification of the amount of arachidonoylcarnitine (C20:4) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800545 name: eicosenoylcarnitine (C20:1) measurement def: "Quantification of the amount of eicosenoylcarnitine (C20:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800546 name: dihomo-linoleoylcarnitine (C20:2) measurement def: "Quantification of the amount of dihomo-linoleoylcarnitine (C20:2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800547 name: dihomo-linolenoylcarnitine (C20:3n3 or 6) measurement def: "Quantification of the amount of dihomo-linolenoylcarnitine (C20:3n3 or 6) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800548 name: docosahexaenoylcarnitine (C22:6) measurement def: "Quantification of the amount of docosahexaenoylcarnitine (C22:6) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800549 name: nervonoylcarnitine (C24:1) measurement def: "Quantification of the amount of nervonoylcarnitine (C24:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800550 name: docosapentaenoylcarnitine (C22:5n3) measurement def: "Quantification of the amount of docosapentaenoylcarnitine (C22:5n3) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800551 name: glycosyl ceramide (d18:1/20:0, d16:1/22:0) measurement def: "Quantification of the amount of glycosyl ceramide (d18:1/20:0, d16:1/22:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800552 name: cortolone glucuronide (1) measurement def: "Quantification of the amount of cortolone glucuronide (1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800553 name: phosphatidylcholine (O-18:1/20:4, O-16:0/22:5n3) measurement def: "Quantification of the amount of phosphatidylcholine (O-18:1/20:4, O-16:0/22:5n3) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800554 name: 1-palmitoyl-2-pentadecanoyl-GPC (16:0/15:0) measurement def: "Quantification of the amount of 1-palmitoyl-2-pentadecanoyl-GPC (16:0/15:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800555 name: 5-dodecenoylcarnitine (C12:1) measurement def: "Quantification of the amount of 5-dodecenoylcarnitine (C12:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800556 name: 2-butenoylglycine measurement def: "Quantification of the amount of 2-butenoylglycine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800557 name: hydroxy-CMPF measurement def: "Quantification of the amount of hydroxy-CMPF in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800558 name: 2-hydroxyarachidate measurement def: "Quantification of the amount of 2-hydroxyarachidate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800559 name: N-stearoylserine measurement def: "Quantification of the amount of N-stearoylserine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800560 name: 3-hydroxyoleate measurement def: "Quantification of the amount of 3-hydroxyoleate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800561 name: dodecenedioate (C12:1-DC) measurement def: "Quantification of the amount of dodecenedioate (C12:1-DC) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800562 name: hexadecenedioate (C16:1-DC) measurement def: "Quantification of the amount of hexadecenedioate (C16:1-DC) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800563 name: octadecenedioate (C18:1-DC) measurement def: "Quantification of the amount of octadecenedioate (C18:1-DC) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800564 name: heptenedioate (C7:1-DC) measurement def: "Quantification of the amount of heptenedioate (C7:1-DC) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800565 name: octadecadienedioate (C18:2-DC) measurement def: "Quantification of the amount of octadecadienedioate (C18:2-DC) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800566 name: 3-carboxy-4-methyl-5-pentyl-2-furanpropionate (3-CMPFP) measurement def: "Quantification of the amount of 3-carboxy-4-methyl-5-pentyl-2-furanpropionate (3-CMPFP) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800567 name: N-acetyl-2-aminooctanoate measurement def: "Quantification of the amount of N-acetyl-2-aminooctanoate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800568 name: 3-hydroxybutyroylglycine measurement def: "Quantification of the amount of 3-hydroxybutyroylglycine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800569 name: glyco-beta-muricholate measurement def: "Quantification of the amount of glyco-beta-muricholate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800570 name: tetradecadienoate (14:2) measurement def: "Quantification of the amount of tetradecadienoate (14:2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800571 name: 2-hydroxysebacate measurement def: "Quantification of the amount of 2-hydroxysebacate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800572 name: dodecadienoate (12:2) measurement def: "Quantification of the amount of dodecadienoate (12:2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800573 name: 11beta-hydroxyandrosterone glucuronide measurement def: "Quantification of the amount of 11beta-hydroxyandrosterone glucuronide in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800574 name: cholic acid glucuronide measurement def: "Quantification of the amount of cholic acid glucuronide in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800575 name: deoxycholic acid glucuronide measurement def: "Quantification of the amount of deoxycholic acid glucuronide in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800576 name: 4-methylhexanoylglutamine measurement def: "Quantification of the amount of 4-methylhexanoylglutamine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800577 name: 1-nonadecenoyl-GPC (19:1) measurement def: "Quantification of the amount of 1-nonadecenoyl-GPC (19:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800578 name: glycoursodeoxycholic acid sulfate (1) measurement def: "Quantification of the amount of glycoursodeoxycholic acid sulfate (1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800579 name: lithocholate sulfate (1) measurement def: "Quantification of the amount of lithocholate sulfate (1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800580 name: 3-hydroxyhexanoylcarnitine (1) measurement def: "Quantification of the amount of 3-hydroxyhexanoylcarnitine (1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800581 name: 3-hydroxyhexanoylcarnitine (2) measurement def: "Quantification of the amount of 3-hydroxyhexanoylcarnitine (2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800582 name: tetrahydrocortisol sulfate (1) measurement def: "Quantification of the amount of tetrahydrocortisol sulfate (1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800583 name: hydroxypalmitoyl sphingomyelin (d18:1/16:0(OH)) measurement def: "Quantification of the amount of hydroxypalmitoyl sphingomyelin (d18:1/16:0(OH)) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800584 name: taurochenodeoxycholic acid 3-sulfate measurement def: "Quantification of the amount of taurochenodeoxycholic acid 3-sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800585 name: tetradecadienedioate (C14:2-DC) measurement def: "Quantification of the amount of tetradecadienedioate (C14:2-DC) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800586 name: pregnenetriol sulfate measurement def: "Quantification of the amount of pregnenetriol sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800587 name: pregnenetriol disulfate measurement def: "Quantification of the amount of pregnenetriol disulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800588 name: undecenoylcarnitine (C11:1) measurement def: "Quantification of the amount of undecenoylcarnitine (C11:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800589 name: 3-decenoylcarnitine measurement def: "Quantification of the amount of 3-decenoylcarnitine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800590 name: 3-hydroxydecanoylcarnitine measurement def: "Quantification of the amount of 3-hydroxydecanoylcarnitine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800591 name: palmitoyl-sphingosine-phosphoethanolamine (d18:1/16:0) measurement def: "Quantification of the amount of palmitoyl-sphingosine-phosphoethanolamine (d18:1/16:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800592 name: picolinoylglycine measurement def: "Quantification of the amount of picolinoylglycine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800593 name: branched chain 14:0 dicarboxylic acid measurement def: "Quantification of the amount of branched chain 14:0 dicarboxylic acid in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800594 name: (2 or 3)-decenoate (10:1n7 or n8) measurement def: "Quantification of the amount of (2 or 3)-decenoate (10:1n7 or n8) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800595 name: isoursodeoxycholate sulfate (1) measurement def: "Quantification of the amount of isoursodeoxycholate sulfate (1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800596 name: chenodeoxycholic acid sulfate (1) measurement def: "Quantification of the amount of chenodeoxycholic acid sulfate (1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800597 name: chenodeoxycholic acid sulfate (2) measurement def: "Quantification of the amount of chenodeoxycholic acid sulfate (2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800598 name: decadienedioic acid (C10:2-DC) measurement def: "Quantification of the amount of decadienedioic acid (C10:2-DC) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800599 name: deoxycholic acid (12 or 24)-sulfate measurement def: "Quantification of the amount of deoxycholic acid (12 or 24)-sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800600 name: phosphoethanolamine measurement def: "Quantification of the amount of phosphoethanolamine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800601 name: erucate (22:1n9) measurement def: "Quantification of the amount of erucate (22:1n9) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800602 name: 3-hydroxy-3-methylglutarate measurement def: "Quantification of the amount of 3-hydroxy-3-methylglutarate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800603 name: valerate (5:0) measurement def: "Quantification of the amount of valerate (5:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800604 name: oleoyl ethanolamide measurement def: "Quantification of the amount of oleoyl ethanolamide in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800605 name: isobutyrate (4:0) measurement def: "Quantification of the amount of isobutyrate (4:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800606 name: estrone 3-sulfate measurement def: "Quantification of the amount of estrone 3-sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800607 name: N-palmitoyl-sphingosine (d18:1/16:0) measurement def: "Quantification of the amount of N-palmitoyl-sphingosine (d18:1/16:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800608 name: 1-palmitoyl-2-oleoyl-GPE (16:0/18:1) measurement def: "Quantification of the amount of 1-palmitoyl-2-oleoyl-GPE (16:0/18:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800609 name: 1-palmitoyl-2-linoleoyl-GPI (16:0/18:2) measurement def: "Quantification of the amount of 1-palmitoyl-2-linoleoyl-GPI (16:0/18:2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800610 name: 1-palmitoyl-2-linoleoyl-GPC (16:0/18:2) measurement def: "Quantification of the amount of 1-palmitoyl-2-linoleoyl-GPC (16:0/18:2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800611 name: stearoyl sphingomyelin (d18:1/18:0) measurement def: "Quantification of the amount of stearoyl sphingomyelin (d18:1/18:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800612 name: 1-palmitoyl-2-oleoyl-GPC (16:0/18:1) measurement def: "Quantification of the amount of 1-palmitoyl-2-oleoyl-GPC (16:0/18:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800613 name: N-stearoyl-sphingosine (d18:1/18:0) measurement def: "Quantification of the amount of N-stearoyl-sphingosine (d18:1/18:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800614 name: linoleate (18:2n6) measurement def: "Quantification of the amount of linoleate (18:2n6) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800615 name: azelate (C9-DC) measurement def: "Quantification of the amount of azelate (C9-DC) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800616 name: eicosapentaenoate (EPA; 20:5n3) measurement def: "Quantification of the amount of eicosapentaenoate (EPA; 20:5n3) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800617 name: choline phosphate measurement def: "Quantification of the amount of choline phosphate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800618 name: sphingosine measurement def: "Quantification of the amount of sphingosine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800619 name: sphinganine measurement def: "Quantification of the amount of sphinganine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800620 name: glutarate (C5-DC) measurement def: "Quantification of the amount of glutarate (C5-DC) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800621 name: myo-inositol measurement def: "Quantification of the amount of myo-inositol in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800622 name: methylmalonate (MMA) measurement def: "Quantification of the amount of methylmalonate (MMA) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800623 name: pristanate measurement def: "Quantification of the amount of pristanate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800624 name: 12,13-DiHOME measurement def: "Quantification of the amount of 12,13-DiHOME in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800625 name: arachidate (20:0) measurement def: "Quantification of the amount of arachidate (20:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800626 name: N-stearoyl-sphinganine (d18:0/18:0) measurement def: "Quantification of the amount of N-stearoyl-sphinganine (d18:0/18:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800627 name: N1-methylinosine measurement def: "Quantification of the amount of N1-methylinosine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800628 name: N4-acetylcytidine measurement def: "Quantification of the amount of N4-acetylcytidine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800629 name: N6-carbamoylthreonyladenosine measurement def: "Quantification of the amount of N6-carbamoylthreonyladenosine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800630 name: orotidine measurement def: "Quantification of the amount of orotidine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800631 name: 5,6-dihydrouridine measurement def: "Quantification of the amount of 5,6-dihydrouridine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800632 name: 3-(3-amino-3-carboxypropyl)uridine measurement def: "Quantification of the amount of 3-(3-amino-3-carboxypropyl)uridine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800633 name: 3-methylcytidine measurement def: "Quantification of the amount of 3-methylcytidine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800634 name: N2-methylguanosine measurement def: "Quantification of the amount of N2-methylguanosine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800635 name: 2'-O-methylcytidine measurement def: "Quantification of the amount of 2'-O-methylcytidine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800636 name: 2'-O-methyluridine measurement def: "Quantification of the amount of 2'-O-methyluridine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800637 name: 5,6-dihydrouracil measurement def: "Quantification of the amount of 5,6-dihydrouracil in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800638 name: 5,6-dihydrothymine measurement def: "Quantification of the amount of 5,6-dihydrothymine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800639 name: N6-methyladenosine measurement def: "Quantification of the amount of N6-methyladenosine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800640 name: beta-alanine measurement def: "Quantification of the amount of beta-alanine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800641 name: inosine 5'-monophosphate (IMP) measurement def: "Quantification of the amount of inosine 5'-monophosphate (IMP) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800642 name: orotate measurement def: "Quantification of the amount of orotate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800643 name: 2'-deoxyuridine measurement def: "Quantification of the amount of 2'-deoxyuridine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800644 name: uracil measurement def: "Quantification of the amount of uracil in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800645 name: cytidine measurement def: "Quantification of the amount of cytidine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800646 name: thymine measurement def: "Quantification of the amount of thymine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800647 name: dihydroorotate measurement def: "Quantification of the amount of dihydroorotate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800648 name: glucuronide of C19H28O4 (1) measurement def: "Quantification of the amount of glucuronide of C19H28O4 (1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800649 name: glucuronide of C19H28O4 (2) measurement def: "Quantification of the amount of glucuronide of C19H28O4 (2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800650 name: glucuronide of C10H18O2 (1) measurement def: "Quantification of the amount of glucuronide of C10H18O2 (1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800651 name: glucuronide of C10H18O2 (4) measurement def: "Quantification of the amount of glucuronide of C10H18O2 (4) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800652 name: glucuronide of C10H18O2 (7) measurement def: "Quantification of the amount of glucuronide of C10H18O2 (7) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800653 name: glucuronide of C10H18O2 (8) measurement def: "Quantification of the amount of glucuronide of C10H18O2 (8) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800654 name: glycine conjugate of C10H12O2 measurement def: "Quantification of the amount of glycine conjugate of C10H12O2 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800655 name: glycine conjugate of C10H14O2 (1) measurement def: "Quantification of the amount of glycine conjugate of C10H14O2 (1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800656 name: glutamine conjugate of C7H12O2 measurement def: "Quantification of the amount of glutamine conjugate of C7H12O2 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800657 name: glutamine conjugate of C6H10O2 (1) measurement def: "Quantification of the amount of glutamine conjugate of C6H10O2 (1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800658 name: glutamine conjugate of C6H10O2 (2) measurement def: "Quantification of the amount of glutamine conjugate of C6H10O2 (2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800659 name: metabolonic lactone sulfate measurement def: "Quantification of the amount of metabolonic lactone sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800660 name: pentose acid measurement def: "Quantification of the amount of pentose acid in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800661 name: branched-chain, straight-chain, or cyclopropyl 10:1 fatty acid (1) measurement def: "Quantification of the amount of branched-chain, straight-chain, or cyclopropyl 10:1 fatty acid (1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800662 name: branched-chain, straight-chain, or cyclopropyl 12:1 fatty acid measurement def: "Quantification of the amount of branched-chain, straight-chain, or cyclopropyl 12:1 fatty acid in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800663 name: GlcNAc sulfate conjugate of C21H34O2 steroid measurement def: "Quantification of the amount of GlcNAc sulfate conjugate of C21H34O2 steroid in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800664 name: pyroglutamylglutamine measurement def: "Quantification of the amount of pyroglutamylglutamine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800665 name: bradykinin measurement def: "Quantification of the amount of bradykinin in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800666 name: pyroglutamylvaline measurement def: "Quantification of the amount of pyroglutamylvaline in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800667 name: gamma-glutamyl-epsilon-lysine measurement def: "Quantification of the amount of gamma-glutamyl-epsilon-lysine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800668 name: glycylphenylalanine measurement def: "Quantification of the amount of glycylphenylalanine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800669 name: HWESASLLR measurement def: "Quantification of the amount of HWESASLLR in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800670 name: gamma-glutamylglycine measurement def: "Quantification of the amount of gamma-glutamylglycine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800671 name: gamma-glutamyltryptophan measurement def: "Quantification of the amount of gamma-glutamyltryptophan in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800672 name: fibrinopeptide A measurement def: "Quantification of the amount of fibrinopeptide A in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800673 name: fibrinopeptide A, des-ala(1) measurement def: "Quantification of the amount of fibrinopeptide A, des-ala(1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800674 name: gamma-glutamyl-2-aminobutyrate measurement def: "Quantification of the amount of gamma-glutamyl-2-aminobutyrate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800675 name: gamma-glutamylalanine measurement def: "Quantification of the amount of gamma-glutamylalanine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800676 name: cyclo(leu-pro) measurement def: "Quantification of the amount of cyclo(leu-pro) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800677 name: isoleucylglycine measurement def: "Quantification of the amount of isoleucylglycine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800678 name: leucylglycine measurement def: "Quantification of the amount of leucylglycine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800679 name: phenylalanyltryptophan measurement def: "Quantification of the amount of phenylalanyltryptophan in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800680 name: valylglycine measurement def: "Quantification of the amount of valylglycine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800681 name: valylphenylalanine measurement def: "Quantification of the amount of valylphenylalanine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800682 name: methionylalanine measurement def: "Quantification of the amount of methionylalanine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800683 name: prolylglycine measurement def: "Quantification of the amount of prolylglycine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800684 name: prolylproline measurement def: "Quantification of the amount of prolylproline in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800685 name: prolylserine measurement def: "Quantification of the amount of prolylserine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800686 name: phenylacetylcarnitine measurement def: "Quantification of the amount of phenylacetylcarnitine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800687 name: phenylacetylglutamate measurement def: "Quantification of the amount of phenylacetylglutamate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800688 name: 4-hydroxyphenylacetylglutamine measurement def: "Quantification of the amount of 4-hydroxyphenylacetylglutamine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800689 name: gamma-glutamyl-alpha-lysine measurement def: "Quantification of the amount of gamma-glutamyl-alpha-lysine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800690 name: gamma-glutamylcitrulline measurement def: "Quantification of the amount of gamma-glutamylcitrulline in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800691 name: gamma-glutamylhistidine measurement def: "Quantification of the amount of gamma-glutamylhistidine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800692 name: X-10458 measurement def: "Quantification of the amount of X-10458 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800693 name: X-11308 measurement def: "Quantification of the amount of X-11308 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800694 name: X-11372 measurement def: "Quantification of the amount of X-11372 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800695 name: X-11378 measurement def: "Quantification of the amount of X-11378 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800696 name: X-11522 measurement def: "Quantification of the amount of X-11522 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800697 name: X-11632 measurement def: "Quantification of the amount of X-11632 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800698 name: X-11880 measurement def: "Quantification of the amount of X-11880 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800699 name: X-12015 measurement def: "Quantification of the amount of X-12015 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800700 name: X-12026 measurement def: "Quantification of the amount of X-12026 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800701 name: X-12100 measurement def: "Quantification of the amount of X-12100 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800702 name: X-12101 measurement def: "Quantification of the amount of X-12101 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800703 name: X-12104 measurement def: "Quantification of the amount of X-12104 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800704 name: X-12111 measurement def: "Quantification of the amount of X-12111 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800705 name: X-12112 measurement def: "Quantification of the amount of X-12112 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800706 name: X-12117 measurement def: "Quantification of the amount of X-12117 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800707 name: X-12125 measurement def: "Quantification of the amount of X-12125 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800708 name: X-12126 measurement def: "Quantification of the amount of X-12126 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800709 name: X-12127 measurement def: "Quantification of the amount of X-12127 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800710 name: X-12193 measurement def: "Quantification of the amount of X-12193 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800711 name: X-12221 measurement def: "Quantification of the amount of X-12221 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800712 name: X-12262 measurement def: "Quantification of the amount of X-12262 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800713 name: X-12283 measurement def: "Quantification of the amount of X-12283 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800714 name: X-12306 measurement def: "Quantification of the amount of X-12306 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800715 name: X-12410 measurement def: "Quantification of the amount of X-12410 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800716 name: X-12411 measurement def: "Quantification of the amount of X-12411 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800717 name: X-12462 measurement def: "Quantification of the amount of X-12462 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800718 name: X-12543 measurement def: "Quantification of the amount of X-12543 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800719 name: X-12689 measurement def: "Quantification of the amount of X-12689 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800720 name: X-12707 measurement def: "Quantification of the amount of X-12707 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800721 name: X-12713 measurement def: "Quantification of the amount of X-12713 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800722 name: X-12714 measurement def: "Quantification of the amount of X-12714 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800723 name: X-12718 measurement def: "Quantification of the amount of X-12718 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800724 name: X-12730 measurement def: "Quantification of the amount of X-12730 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800725 name: X-12731 measurement def: "Quantification of the amount of X-12731 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800726 name: X-12738 measurement def: "Quantification of the amount of X-12738 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800727 name: X-12753 measurement def: "Quantification of the amount of X-12753 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800728 name: X-12812 measurement def: "Quantification of the amount of X-12812 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800729 name: X-12818 measurement def: "Quantification of the amount of X-12818 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800730 name: X-12822 measurement def: "Quantification of the amount of X-12822 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800731 name: X-12839 measurement def: "Quantification of the amount of X-12839 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800732 name: X-12849 measurement def: "Quantification of the amount of X-12849 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800733 name: X-12906 measurement def: "Quantification of the amount of X-12906 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800734 name: X-13007 measurement def: "Quantification of the amount of X-13007 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800735 name: X-13431 measurement def: "Quantification of the amount of X-13431 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800736 name: X-13507 measurement def: "Quantification of the amount of X-13507 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800737 name: X-13684 measurement def: "Quantification of the amount of X-13684 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800738 name: X-13695 measurement def: "Quantification of the amount of X-13695 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800739 name: X-13723 measurement def: "Quantification of the amount of X-13723 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800740 name: X-13726 measurement def: "Quantification of the amount of X-13726 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800741 name: X-13728 measurement def: "Quantification of the amount of X-13728 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800742 name: X-13729 measurement def: "Quantification of the amount of X-13729 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800743 name: X-13835 measurement def: "Quantification of the amount of X-13835 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800744 name: X-13844 measurement def: "Quantification of the amount of X-13844 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800745 name: X-13866 measurement def: "Quantification of the amount of X-13866 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800746 name: X-14082 measurement def: "Quantification of the amount of X-14082 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800747 name: X-14939 measurement def: "Quantification of the amount of X-14939 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800748 name: X-15245 measurement def: "Quantification of the amount of X-15245 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800749 name: X-15461 measurement def: "Quantification of the amount of X-15461 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800750 name: X-15469 measurement def: "Quantification of the amount of X-15469 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800751 name: X-15486 measurement def: "Quantification of the amount of X-15486 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800752 name: X-15492 measurement def: "Quantification of the amount of X-15492 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800753 name: X-15503 measurement def: "Quantification of the amount of X-15503 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800754 name: X-15666 measurement def: "Quantification of the amount of X-15666 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800755 name: X-15674 measurement def: "Quantification of the amount of X-15674 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800756 name: X-16087 measurement def: "Quantification of the amount of X-16087 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800757 name: X-16124 measurement def: "Quantification of the amount of X-16124 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800758 name: X-16397 measurement def: "Quantification of the amount of X-16397 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800759 name: X-16570 measurement def: "Quantification of the amount of X-16570 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800760 name: X-16576 measurement def: "Quantification of the amount of X-16576 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800761 name: X-16580 measurement def: "Quantification of the amount of X-16580 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800762 name: X-16649 measurement def: "Quantification of the amount of X-16649 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800763 name: X-16935 measurement def: "Quantification of the amount of X-16935 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800764 name: X-16938 measurement def: "Quantification of the amount of X-16938 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800765 name: X-16944 measurement def: "Quantification of the amount of X-16944 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800766 name: X-16946 measurement def: "Quantification of the amount of X-16946 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800767 name: X-17010 measurement def: "Quantification of the amount of X-17010 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800768 name: X-17137 measurement def: "Quantification of the amount of X-17137 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800769 name: X-17162 measurement def: "Quantification of the amount of X-17162 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800770 name: X-17185 measurement def: "Quantification of the amount of X-17185 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800771 name: X-17325 measurement def: "Quantification of the amount of X-17325 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800772 name: X-17335 measurement def: "Quantification of the amount of X-17335 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800773 name: X-17340 measurement def: "Quantification of the amount of X-17340 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800774 name: X-17351 measurement def: "Quantification of the amount of X-17351 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800775 name: X-17353 measurement def: "Quantification of the amount of X-17353 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800776 name: X-17354 measurement def: "Quantification of the amount of X-17354 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800777 name: X-17357 measurement def: "Quantification of the amount of X-17357 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800778 name: X-17361 measurement def: "Quantification of the amount of X-17361 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800779 name: X-17367 measurement def: "Quantification of the amount of X-17367 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800780 name: X-17371 measurement def: "Quantification of the amount of X-17371 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800781 name: X-17438 measurement def: "Quantification of the amount of X-17438 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800782 name: X-17612 measurement def: "Quantification of the amount of X-17612 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800783 name: X-17653 measurement def: "Quantification of the amount of X-17653 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800784 name: X-17654 measurement def: "Quantification of the amount of X-17654 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800785 name: X-17676 measurement def: "Quantification of the amount of X-17676 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800786 name: X-17685 measurement def: "Quantification of the amount of X-17685 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800787 name: X-17686 measurement def: "Quantification of the amount of X-17686 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800788 name: X-17690 measurement def: "Quantification of the amount of X-17690 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800789 name: X-18345 measurement def: "Quantification of the amount of X-18345 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800790 name: X-18886 measurement def: "Quantification of the amount of X-18886 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800791 name: X-18887 measurement def: "Quantification of the amount of X-18887 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800792 name: X-18888 measurement def: "Quantification of the amount of X-18888 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800793 name: X-18899 measurement def: "Quantification of the amount of X-18899 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800794 name: X-18901 measurement def: "Quantification of the amount of X-18901 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800795 name: X-18913 measurement def: "Quantification of the amount of X-18913 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800796 name: X-18921 measurement def: "Quantification of the amount of X-18921 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800797 name: X-18922 measurement def: "Quantification of the amount of X-18922 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800798 name: X-18935 measurement def: "Quantification of the amount of X-18935 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800799 name: X-19141 measurement def: "Quantification of the amount of X-19141 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800800 name: X-19183 measurement def: "Quantification of the amount of X-19183 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800801 name: X-19438 measurement def: "Quantification of the amount of X-19438 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800802 name: X-21258 measurement def: "Quantification of the amount of X-21258 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800803 name: X-21285 measurement def: "Quantification of the amount of X-21285 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800804 name: X-21286 measurement def: "Quantification of the amount of X-21286 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800805 name: X-21310 measurement def: "Quantification of the amount of X-21310 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800806 name: X-21312 measurement def: "Quantification of the amount of X-21312 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800807 name: X-21319 measurement def: "Quantification of the amount of X-21319 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800808 name: X-21339 measurement def: "Quantification of the amount of X-21339 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800809 name: X-21353 measurement def: "Quantification of the amount of X-21353 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800810 name: X-21355 measurement def: "Quantification of the amount of X-21355 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800811 name: X-21364 measurement def: "Quantification of the amount of X-21364 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800812 name: X-21383 measurement def: "Quantification of the amount of X-21383 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800813 name: X-21410 measurement def: "Quantification of the amount of X-21410 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800814 name: X-21441 measurement def: "Quantification of the amount of X-21441 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800815 name: X-21442 measurement def: "Quantification of the amount of X-21442 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800816 name: X-21448 measurement def: "Quantification of the amount of X-21448 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800817 name: X-21470 measurement def: "Quantification of the amount of X-21470 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800818 name: X-21471 measurement def: "Quantification of the amount of X-21471 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800819 name: X-21607 measurement def: "Quantification of the amount of X-21607 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800820 name: X-21733 measurement def: "Quantification of the amount of X-21733 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800821 name: X-21736 measurement def: "Quantification of the amount of X-21736 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800822 name: X-21740 measurement def: "Quantification of the amount of X-21740 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800823 name: X-21742 measurement def: "Quantification of the amount of X-21742 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800824 name: X-21752 measurement def: "Quantification of the amount of X-21752 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800825 name: X-21796 measurement def: "Quantification of the amount of X-21796 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800826 name: X-21803 measurement def: "Quantification of the amount of X-21803 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800827 name: X-21807 measurement def: "Quantification of the amount of X-21807 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800828 name: X-21815 measurement def: "Quantification of the amount of X-21815 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800829 name: X-21821 measurement def: "Quantification of the amount of X-21821 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800830 name: X-21829 measurement def: "Quantification of the amount of X-21829 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800831 name: X-21830 measurement def: "Quantification of the amount of X-21830 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800832 name: X-21831 measurement def: "Quantification of the amount of X-21831 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800833 name: X-21834 measurement def: "Quantification of the amount of X-21834 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800834 name: X-21839 measurement def: "Quantification of the amount of X-21839 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800835 name: X-21842 measurement def: "Quantification of the amount of X-21842 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800836 name: X-21845 measurement def: "Quantification of the amount of X-21845 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800837 name: X-21959 measurement def: "Quantification of the amount of X-21959 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800838 name: X-22143 measurement def: "Quantification of the amount of X-22143 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800839 name: X-22162 measurement def: "Quantification of the amount of X-22162 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800840 name: X-22508 measurement def: "Quantification of the amount of X-22508 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800841 name: X-22509 measurement def: "Quantification of the amount of X-22509 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800842 name: X-22519 measurement def: "Quantification of the amount of X-22519 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800843 name: X-22520 measurement def: "Quantification of the amount of X-22520 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800844 name: X-22771 measurement def: "Quantification of the amount of X-22771 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800845 name: X-22776 measurement def: "Quantification of the amount of X-22776 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800846 name: X-23157 measurement def: "Quantification of the amount of X-23157 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800847 name: X-23276 measurement def: "Quantification of the amount of X-23276 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800848 name: X-23583 measurement def: "Quantification of the amount of X-23583 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800849 name: X-23587 measurement def: "Quantification of the amount of X-23587 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800850 name: X-23590 measurement def: "Quantification of the amount of X-23590 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800851 name: X-23593 measurement def: "Quantification of the amount of X-23593 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800852 name: X-23636 measurement def: "Quantification of the amount of X-23636 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800853 name: X-23639 measurement def: "Quantification of the amount of X-23639 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800854 name: X-23641 measurement def: "Quantification of the amount of X-23641 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800855 name: X-23644 measurement def: "Quantification of the amount of X-23644 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800856 name: X-23655 measurement def: "Quantification of the amount of X-23655 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800857 name: X-23657 measurement def: "Quantification of the amount of X-23657 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800858 name: X-23662 measurement def: "Quantification of the amount of X-23662 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800859 name: X-23665 measurement def: "Quantification of the amount of X-23665 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800860 name: X-23666 measurement def: "Quantification of the amount of X-23666 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800861 name: X-23678 measurement def: "Quantification of the amount of X-23678 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800862 name: X-23680 measurement def: "Quantification of the amount of X-23680 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800863 name: X-23739 measurement def: "Quantification of the amount of X-23739 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800864 name: X-23780 measurement def: "Quantification of the amount of X-23780 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800865 name: X-23782 measurement def: "Quantification of the amount of X-23782 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800866 name: X-23787 measurement def: "Quantification of the amount of X-23787 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800867 name: X-23974 measurement def: "Quantification of the amount of X-23974 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800868 name: X-23997 measurement def: "Quantification of the amount of X-23997 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800869 name: X-24295 measurement def: "Quantification of the amount of X-24295 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800870 name: X-24306 measurement def: "Quantification of the amount of X-24306 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800871 name: X-24307 measurement def: "Quantification of the amount of X-24307 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800872 name: X-24309 measurement def: "Quantification of the amount of X-24309 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800873 name: X-24328 measurement def: "Quantification of the amount of X-24328 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800874 name: X-24334 measurement def: "Quantification of the amount of X-24334 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800875 name: X-24337 measurement def: "Quantification of the amount of X-24337 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800876 name: X-24344 measurement def: "Quantification of the amount of X-24344 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800877 name: X-24352 measurement def: "Quantification of the amount of X-24352 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800878 name: X-24411 measurement def: "Quantification of the amount of X-24411 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800879 name: X-24418 measurement def: "Quantification of the amount of X-24418 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800880 name: X-24422 measurement def: "Quantification of the amount of X-24422 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800881 name: X-24425 measurement def: "Quantification of the amount of X-24425 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800882 name: X-24431 measurement def: "Quantification of the amount of X-24431 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800883 name: X-24432 measurement def: "Quantification of the amount of X-24432 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800884 name: X-24455 measurement def: "Quantification of the amount of X-24455 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800885 name: X-24456 measurement def: "Quantification of the amount of X-24456 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800886 name: X-24462 measurement def: "Quantification of the amount of X-24462 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800887 name: X-24473 measurement def: "Quantification of the amount of X-24473 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800888 name: X-24475 measurement def: "Quantification of the amount of X-24475 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800889 name: X-24494 measurement def: "Quantification of the amount of X-24494 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800890 name: X-24518 measurement def: "Quantification of the amount of X-24518 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800891 name: X-24541 measurement def: "Quantification of the amount of X-24541 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800892 name: X-24544 measurement def: "Quantification of the amount of X-24544 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800893 name: X-24546 measurement def: "Quantification of the amount of X-24546 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800894 name: X-24549 measurement def: "Quantification of the amount of X-24549 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800895 name: X-24556 measurement def: "Quantification of the amount of X-24556 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800896 name: X-24571 measurement def: "Quantification of the amount of X-24571 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800897 name: X-24574 measurement def: "Quantification of the amount of X-24574 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800898 name: X-24588 measurement def: "Quantification of the amount of X-24588 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800899 name: X-24637 measurement def: "Quantification of the amount of X-24637 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800900 name: X-24657 measurement def: "Quantification of the amount of X-24657 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800901 name: X-24669 measurement def: "Quantification of the amount of X-24669 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800902 name: X-24699 measurement def: "Quantification of the amount of X-24699 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800903 name: X-24728 measurement def: "Quantification of the amount of X-24728 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800904 name: X-24736 measurement def: "Quantification of the amount of X-24736 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800905 name: X-24757 measurement def: "Quantification of the amount of X-24757 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800906 name: X-24762 measurement def: "Quantification of the amount of X-24762 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800907 name: X-24811 measurement def: "Quantification of the amount of X-24811 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800908 name: X-24812 measurement def: "Quantification of the amount of X-24812 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800909 name: X-24849 measurement def: "Quantification of the amount of X-24849 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800910 name: X-24947 measurement def: "Quantification of the amount of X-24947 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800911 name: X-24949 measurement def: "Quantification of the amount of X-24949 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800912 name: X-24951 measurement def: "Quantification of the amount of X-24951 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800913 name: X-24970 measurement def: "Quantification of the amount of X-24970 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800914 name: X-24972 measurement def: "Quantification of the amount of X-24972 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800915 name: X-24980 measurement def: "Quantification of the amount of X-24980 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800916 name: X-25172 measurement def: "Quantification of the amount of X-25172 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800917 name: X-25265 measurement def: "Quantification of the amount of X-25265 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800918 name: X-25266 measurement def: "Quantification of the amount of X-25266 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800919 name: X-25267 measurement def: "Quantification of the amount of X-25267 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800920 name: X-25271 measurement def: "Quantification of the amount of X-25271 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800921 name: X-25279 measurement def: "Quantification of the amount of X-25279 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800922 name: X-25343 measurement def: "Quantification of the amount of X-25343 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800923 name: X-25371 measurement def: "Quantification of the amount of X-25371 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800924 name: X-25417 measurement def: "Quantification of the amount of X-25417 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800925 name: X-25419 measurement def: "Quantification of the amount of X-25419 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800926 name: X-25420 measurement def: "Quantification of the amount of X-25420 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800927 name: X-25422 measurement def: "Quantification of the amount of X-25422 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800928 name: X-25433 measurement def: "Quantification of the amount of X-25433 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800929 name: X-25503 measurement def: "Quantification of the amount of X-25503 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800930 name: X-25519 measurement def: "Quantification of the amount of X-25519 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800931 name: X-25520 measurement def: "Quantification of the amount of X-25520 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800932 name: X-25617 measurement def: "Quantification of the amount of X-25617 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800933 name: X-25790 measurement def: "Quantification of the amount of X-25790 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800934 name: X-25793 measurement def: "Quantification of the amount of X-25793 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800935 name: X-25802 measurement def: "Quantification of the amount of X-25802 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800936 name: X-25828 measurement def: "Quantification of the amount of X-25828 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800937 name: X-25937 measurement def: "Quantification of the amount of X-25937 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800938 name: X-25957 measurement def: "Quantification of the amount of X-25957 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800939 name: X-26054 measurement def: "Quantification of the amount of X-26054 in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800940 name: 4-acetamidophenylglucuronide measurement def: "Quantification of the amount of 4-acetamidophenylglucuronide in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800941 name: tartarate measurement def: "Quantification of the amount of tartarate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800942 name: 4-acetylphenol sulfate measurement def: "Quantification of the amount of 4-acetylphenol sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800943 name: theanine measurement def: "Quantification of the amount of theanine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800944 name: tartronate (hydroxymalonate) measurement def: "Quantification of the amount of tartronate (hydroxymalonate) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800945 name: iminodiacetate (IDA) measurement def: "Quantification of the amount of iminodiacetate (IDA) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800946 name: EDTA measurement def: "Quantification of the amount of EDTA in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800947 name: N-(2-furoyl)glycine measurement def: "Quantification of the amount of N-(2-furoyl)glycine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800948 name: 1,3-dimethylurate measurement def: "Quantification of the amount of 1,3-dimethylurate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800949 name: 3,7-dimethylurate measurement def: "Quantification of the amount of 3,7-dimethylurate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800950 name: 5-acetylamino-6-formylamino-3-methyluracil measurement def: "Quantification of the amount of 5-acetylamino-6-formylamino-3-methyluracil in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800951 name: 5-acetylamino-6-amino-3-methyluracil measurement def: "Quantification of the amount of 5-acetylamino-6-amino-3-methyluracil in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800952 name: 3-(3-hydroxyphenyl)propionate measurement def: "Quantification of the amount of 3-(3-hydroxyphenyl)propionate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800953 name: ectoine measurement def: "Quantification of the amount of ectoine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800954 name: pyrraline measurement def: "Quantification of the amount of pyrraline in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800955 name: O-cresol sulfate measurement def: "Quantification of the amount of O-cresol sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800956 name: 3-ethylphenylsulfate measurement def: "Quantification of the amount of 3-ethylphenylsulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800957 name: 2-ethylphenylsulfate measurement def: "Quantification of the amount of 2-ethylphenylsulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800958 name: 4-allylphenol sulfate measurement def: "Quantification of the amount of 4-allylphenol sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800959 name: 4-hydroxycoumarin measurement def: "Quantification of the amount of 4-hydroxycoumarin in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800960 name: 3-hydroxyhippurate measurement def: "Quantification of the amount of 3-hydroxyhippurate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800961 name: 7-methylurate measurement def: "Quantification of the amount of 7-methylurate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800962 name: cinnamoylglycine measurement def: "Quantification of the amount of cinnamoylglycine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800963 name: 2,3-dihydroxyisovalerate measurement def: "Quantification of the amount of 2,3-dihydroxyisovalerate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800964 name: hydroxycotinine measurement def: "Quantification of the amount of hydroxycotinine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800965 name: cotinine N-oxide measurement def: "Quantification of the amount of cotinine N-oxide in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800966 name: solanidine measurement def: "Quantification of the amount of solanidine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800967 name: ethyl glucuronide measurement def: "Quantification of the amount of ethyl glucuronide in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800968 name: 2-oxindole-3-acetate measurement def: "Quantification of the amount of 2-oxindole-3-acetate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800969 name: dihydroferulate measurement def: "Quantification of the amount of dihydroferulate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800970 name: alliin measurement def: "Quantification of the amount of alliin in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800971 name: mannonate measurement def: "Quantification of the amount of mannonate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800972 name: histidine betaine (hercynine) measurement def: "Quantification of the amount of histidine betaine (hercynine) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800973 name: 3-methyl catechol sulfate (2) measurement def: "Quantification of the amount of 3-methyl catechol sulfate (2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800974 name: 4-methylcatechol sulfate measurement def: "Quantification of the amount of 4-methylcatechol sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800975 name: 3-methyl catechol sulfate (1) measurement def: "Quantification of the amount of 3-methyl catechol sulfate (1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800976 name: 2-hydroxyibuprofen measurement def: "Quantification of the amount of 2-hydroxyibuprofen in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800977 name: carboxyibuprofen measurement def: "Quantification of the amount of carboxyibuprofen in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800978 name: guaiacol sulfate measurement def: "Quantification of the amount of guaiacol sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800979 name: dimethyl sulfone measurement def: "Quantification of the amount of dimethyl sulfone in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800980 name: 2-piperidinone measurement def: "Quantification of the amount of 2-piperidinone in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800981 name: indolin-2-one measurement def: "Quantification of the amount of indolin-2-one in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800982 name: 2-aminophenol sulfate measurement def: "Quantification of the amount of 2-aminophenol sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800983 name: 3-acetylphenol sulfate measurement def: "Quantification of the amount of 3-acetylphenol sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800984 name: 3-hydroxycotinine glucuronide measurement def: "Quantification of the amount of 3-hydroxycotinine glucuronide in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800985 name: S-allylcysteine measurement def: "Quantification of the amount of S-allylcysteine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800986 name: benzoylcarnitine measurement def: "Quantification of the amount of benzoylcarnitine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800987 name: N-acetylalliin measurement def: "Quantification of the amount of N-acetylalliin in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800988 name: N-methylpipecolate measurement def: "Quantification of the amount of N-methylpipecolate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800989 name: ferulic acid 4-sulfate measurement def: "Quantification of the amount of ferulic acid 4-sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800990 name: 3-(3-hydroxyphenyl)propionate sulfate measurement def: "Quantification of the amount of 3-(3-hydroxyphenyl)propionate sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800991 name: methyl glucopyranoside (alpha + beta) measurement def: "Quantification of the amount of methyl glucopyranoside (alpha + beta) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800992 name: 4-hydroxychlorothalonil measurement def: "Quantification of the amount of 4-hydroxychlorothalonil in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800993 name: isoeugenol sulfate measurement def: "Quantification of the amount of isoeugenol sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800994 name: 3-hydroxycinnamate sulfate measurement def: "Quantification of the amount of 3-hydroxycinnamate sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800995 name: 3-hydroxypyridine sulfate measurement def: "Quantification of the amount of 3-hydroxypyridine sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800996 name: 4-methylguaiacol sulfate measurement def: "Quantification of the amount of 4-methylguaiacol sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800997 name: methyl-4-hydroxybenzoate sulfate measurement def: "Quantification of the amount of methyl-4-hydroxybenzoate sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800998 name: 4-vinylguaiacol sulfate measurement def: "Quantification of the amount of 4-vinylguaiacol sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0800999 name: eugenol sulfate measurement def: "Quantification of the amount of eugenol sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801000 name: 2-methoxyresorcinol sulfate measurement def: "Quantification of the amount of 2-methoxyresorcinol sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801001 name: 2-acetamidophenol sulfate measurement def: "Quantification of the amount of 2-acetamidophenol sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801002 name: acesulfame measurement def: "Quantification of the amount of acesulfame in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801003 name: syringol sulfate measurement def: "Quantification of the amount of syringol sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801004 name: 6-hydroxyindole sulfate measurement def: "Quantification of the amount of 6-hydroxyindole sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801005 name: propyl 4-hydroxybenzoate sulfate measurement def: "Quantification of the amount of propyl 4-hydroxybenzoate sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801006 name: umbelliferone sulfate measurement def: "Quantification of the amount of umbelliferone sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801007 name: daidzein sulfate (2) measurement def: "Quantification of the amount of daidzein sulfate (2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801008 name: 1,2,3-benzenetriol sulfate (2) measurement def: "Quantification of the amount of 1,2,3-benzenetriol sulfate (2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801009 name: 3-methoxycatechol sulfate (1) measurement def: "Quantification of the amount of 3-methoxycatechol sulfate (1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801010 name: 3-methoxycatechol sulfate (2) measurement def: "Quantification of the amount of 3-methoxycatechol sulfate (2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801011 name: 3,4-methyleneheptanoate measurement def: "Quantification of the amount of 3,4-methyleneheptanoate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801012 name: thioproline measurement def: "Quantification of the amount of thioproline in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801013 name: caffeic acid sulfate measurement def: "Quantification of the amount of caffeic acid sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801014 name: 4-acetamidobenzoate measurement def: "Quantification of the amount of 4-acetamidobenzoate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801015 name: naringenin 7-glucuronide measurement def: "Quantification of the amount of naringenin 7-glucuronide in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801016 name: ferulylglycine (1) measurement def: "Quantification of the amount of ferulylglycine (1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801017 name: ferulylglycine (2) measurement def: "Quantification of the amount of ferulylglycine (2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801018 name: perfluorooctanesulfonate (PFOS) measurement def: "Quantification of the amount of perfluorooctanesulfonate (PFOS) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801019 name: ethyl alpha-glucopyranoside measurement def: "Quantification of the amount of ethyl alpha-glucopyranoside in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801020 name: methylnaphthyl sulfate (1) measurement def: "Quantification of the amount of methylnaphthyl sulfate (1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801021 name: methylnaphthyl sulfate (2) measurement def: "Quantification of the amount of methylnaphthyl sulfate (2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801022 name: 3-hydroxystachydrine measurement def: "Quantification of the amount of 3-hydroxystachydrine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801023 name: genistein sulfate measurement def: "Quantification of the amount of genistein sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801024 name: perfluorooctanoate (PFOA) measurement def: "Quantification of the amount of perfluorooctanoate (PFOA) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801025 name: 3-formylindole measurement def: "Quantification of the amount of 3-formylindole in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801026 name: dihydroferulic acid sulfate measurement def: "Quantification of the amount of dihydroferulic acid sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801027 name: 3-indoleglyoxylic acid measurement def: "Quantification of the amount of 3-indoleglyoxylic acid in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801028 name: ethyl beta-glucopyranoside measurement def: "Quantification of the amount of ethyl beta-glucopyranoside in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801029 name: enterolactone sulfate measurement def: "Quantification of the amount of enterolactone sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801030 name: 3-hydroxyhippurate sulfate measurement def: "Quantification of the amount of 3-hydroxyhippurate sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801031 name: glucuronide of piperine metabolite C17H21NO3 (3) measurement def: "Quantification of the amount of glucuronide of piperine metabolite C17H21NO3 (3) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801032 name: glucuronide of piperine metabolite C17H21NO3 (4) measurement def: "Quantification of the amount of glucuronide of piperine metabolite C17H21NO3 (4) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801033 name: glucuronide of piperine metabolite C17H21NO3 (5) measurement def: "Quantification of the amount of glucuronide of piperine metabolite C17H21NO3 (5) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801034 name: sulfate of piperine metabolite C16H19NO3 (2) measurement def: "Quantification of the amount of sulfate of piperine metabolite C16H19NO3 (2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801035 name: sulfate of piperine metabolite C16H19NO3 (3) measurement def: "Quantification of the amount of sulfate of piperine metabolite C16H19NO3 (3) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801036 name: sulfate of piperine metabolite C18H21NO3 (1) measurement def: "Quantification of the amount of sulfate of piperine metabolite C18H21NO3 (1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801037 name: sulfate of piperine metabolite C18H21NO3 (3) measurement def: "Quantification of the amount of sulfate of piperine metabolite C18H21NO3 (3) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801038 name: 2-naphthol sulfate measurement def: "Quantification of the amount of 2-naphthol sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801039 name: (2,4 or 2,5)-dimethylphenol sulfate measurement def: "Quantification of the amount of (2,4 or 2,5)-dimethylphenol sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801040 name: 4-ethylcatechol sulfate measurement def: "Quantification of the amount of 4-ethylcatechol sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801041 name: 4-allylcatechol sulfate measurement def: "Quantification of the amount of 4-allylcatechol sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801042 name: 2-hydroxyfluorene sulfate measurement def: "Quantification of the amount of 2-hydroxyfluorene sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801043 name: 3-hydroxypyridine glucuronide measurement def: "Quantification of the amount of 3-hydroxypyridine glucuronide in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801044 name: dihydrocaffeate sulfate (2) measurement def: "Quantification of the amount of dihydrocaffeate sulfate (2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801045 name: 3-(methylthio)acetaminophen sulfate measurement def: "Quantification of the amount of 3-(methylthio)acetaminophen sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801046 name: 2,6-dihydroxybenzoic acid measurement def: "Quantification of the amount of 2,6-dihydroxybenzoic acid in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801047 name: 3-ethylcatechol sulfate (1) measurement def: "Quantification of the amount of 3-ethylcatechol sulfate (1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801048 name: 3-ethylcatechol sulfate (2) measurement def: "Quantification of the amount of 3-ethylcatechol sulfate (2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801049 name: 4-acetylcatechol sulfate (1) measurement def: "Quantification of the amount of 4-acetylcatechol sulfate (1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801050 name: 4-acetylcatechol sulfate (2) measurement def: "Quantification of the amount of 4-acetylcatechol sulfate (2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801051 name: 5-hydroxy-2-methylpyridine sulfate measurement def: "Quantification of the amount of 5-hydroxy-2-methylpyridine sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801052 name: 3-hydroxy-2-methylpyridine sulfate measurement def: "Quantification of the amount of 3-hydroxy-2-methylpyridine sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801053 name: 5-hydroxymethyl-2-furoylcarnitine measurement def: "Quantification of the amount of 5-hydroxymethyl-2-furoylcarnitine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801054 name: 3,5-dichloro-2,6-dihydroxybenzoic acid measurement def: "Quantification of the amount of 3,5-dichloro-2,6-dihydroxybenzoic acid in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801055 name: (S)-a-amino-omega-caprolactam measurement def: "Quantification of the amount of (S)-a-amino-omega-caprolactam in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801056 name: vanillic acid glycine measurement def: "Quantification of the amount of vanillic acid glycine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801057 name: 2-methoxyhydroquinone glucuronide (2) measurement def: "Quantification of the amount of 2-methoxyhydroquinone glucuronide (2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801058 name: 3-bromo-5-chloro-2,6-dihydroxybenzoic acid measurement def: "Quantification of the amount of 3-bromo-5-chloro-2,6-dihydroxybenzoic acid in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801059 name: 4-chlorobenzoic acid measurement def: "Quantification of the amount of 4-chlorobenzoic acid in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801060 name: N-acetyl-4-chlorophenylalanine measurement def: "Quantification of the amount of N-acetyl-4-chlorophenylalanine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801061 name: 2-methoxyhydroquinone sulfate (1) measurement def: "Quantification of the amount of 2-methoxyhydroquinone sulfate (1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801062 name: 2-methoxyhydroquinone sulfate (2) measurement def: "Quantification of the amount of 2-methoxyhydroquinone sulfate (2) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801063 name: methyl indole-3-acetate measurement def: "Quantification of the amount of methyl indole-3-acetate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801064 name: gluconate measurement def: "Quantification of the amount of gluconate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801065 name: phytanate measurement def: "Quantification of the amount of phytanate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801066 name: arabonate measurement def: "Quantification of the amount of arabonate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801067 name: xylitol measurement def: "Quantification of the amount of xylitol in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801068 name: N-acetylglucosamine measurement def: "Quantification of the amount of N-acetylglucosamine in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801069 name: ribulonate measurement def: "Quantification of the amount of ribulonate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801070 name: xylulonate measurement def: "Quantification of the amount of xylulonate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801071 name: 2-methylcitrate measurement def: "Quantification of the amount of 2-methylcitrate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801072 name: oleate (18:1) measurement def: "Quantification of the amount of oleate (18:1) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801073 name: butyrate (4:0) measurement def: "Quantification of the amount of butyrate (4:0) in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801074 name: allopregnanolone sulfate measurement def: "Quantification of the amount of allopregnanolone sulfate in a sample." [] xref: PMID:35347128 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0801075 name: platelet-activating factor measurement def: "Quantification of the amount of platelet-activating factor in a sample." [] synonym: "[(2R)-2-acetyloxy-3-hexadecoxypropyl] 2-(trimethylazaniumyl)ethyl phosphate levels" EXACT [https://pubchem.ncbi.nlm.nih.gov/compound/108156] synonym: "AGEPC (acetyl glyceryl ether phosphorylcholine) levels" EXACT [https://pubchem.ncbi.nlm.nih.gov/compound/108156] synonym: "PAF acether levels" EXACT [https://pubchem.ncbi.nlm.nih.gov/compound/108156] synonym: "PAF levels" EXACT [https://pubchem.ncbi.nlm.nih.gov/compound/108156] synonym: "platelet activating factor levels" EXACT [https://pubchem.ncbi.nlm.nih.gov/compound/108156] xref: PMID:34565479 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801076 name: dihydrobiopterin measurement def: "Quantification of the amount of dihydrobiopterin in a sample." [] xref: PMID:34565479 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801077 name: cystic fibrosis-related diabetes def: "Cystic fibrosis-related diabetes is a form of diabetes that occurs frequently in individuals with cystic fibrosis. It has some characteristics in common with type 1 diabetes and type 2 diabetes but is distinct from both." [] synonym: "CFRD" EXACT [] xref: PMID:36206743 is_a: EFO:0000400 ! diabetes mellitus property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/contributor http://orcid.org/0000-0001-6757-4744 [Term] id: EFO:0801078 name: triclosan measurement def: "Quantification of some aspect of triclosan exposure, an antimicrobial agent used in some consumer products." [] xref: PMID:34619205 is_a: EFO:0008360 ! environmental exposure measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0801079 name: bisphenol A measurement def: "Quantification of some aspect of bisphenol A exposure, an endocrine-disrupting chemical used in the production of some polycarbonate products." [] synonym: "BPA measurement" EXACT [] xref: PMID:34619205 is_a: EFO:0008360 ! environmental exposure measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0801080 name: oxidative stress biomarker measurement def: "Quantification of the amount of some oxidative stress biomarker in a sample. Indicators of oxidative stress include damaged DNA bases, protein oxidation products, and lipid peroxidation products. They can be measured in the blood, urine or skin." [] xref: PMID:26415143 is_a: EFO:0001444 ! measurement property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0801081 name: 8-hydroxydeoxyguanosine measurement def: "Quantification of the amount of 8-hydroxydeoxyguanosine in a sample." [] synonym: "8-hydroxy-deoxyguanosine levels" EXACT [] synonym: "8-OHdG levels" EXACT [] xref: PMID:34619205 is_a: EFO:0801080 ! oxidative stress biomarker measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0801082 name: 8-isoprostaglandin-F2alpha measurement def: "Quantification of the amount of 8-isoprostaglandin-F2alpha in a sample." [] synonym: "8-iso-PGF2α levels" EXACT [] synonym: "8-iso-prostaglandin F2α levels" EXACT [] synonym: "8-isoPGF2alpha levels" EXACT [] xref: PMID:34619205 is_a: EFO:0801080 ! oxidative stress biomarker measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0801083 name: lithostathine-1-alpha measurement def: "Quantification of the amount of lithostathine-1-alpha measurement in a sample." [] synonym: "islet cells regeneration factor (ICRF) levels" EXACT [] synonym: "islet of Langerhans regenerating protein (REG) levels" EXACT [] synonym: "pancreatic stone protein (PSP) levels" EXACT [] synonym: "pancreatic thread protein (PTP) levels" EXACT [] synonym: "regenerating islet-derived protein 1-alpha (REG-1-alpha) levels" EXACT [] synonym: "regenerating protein I alpha levels" EXACT [] xref: PMID:36168886 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0801084 name: cancer pain def: "Pain associated with cancer or its diagnosis or treatment. It may be caused by or related to cellular, tissue, and systemic changes that occur during neoplasm growth, tissue invasion, and metastasis." [PMID:20539035] synonym: "cancer-associated pain" EXACT [] synonym: "cancer-related pain" EXACT [] xref: http://purl.obolibrary.org/obo/NCIT_C178565 xref: http://purl.obolibrary.org/obo/SCDO_1000452 is_a: EFO:0003843 ! pain property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0801085 name: paraoxonase-1 measurement def: "Quantification of the amount of paraoxonase-1 in a sample." [] synonym: "PON1 measurement" EXACT [] xref: PMID:35264221 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0801086 name: anti-alpha-casein IgG measurement def: "Quantification of the IgG antibody isotype produced in response to bovine alpha casein antigen." [] xref: PMID:34804013 is_a: EFO:0004565 ! serum IgG measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0801087 name: anti-beta-casein IgG measurement def: "Quantification of the IgG antibody isotype produced in response to bovine beta casein antigen." [] xref: PMID:34804013 is_a: EFO:0004565 ! serum IgG measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0801088 name: anti-feline herpes IgG measurement def: "Quantification of the IgG antibody isotype produced in response to feline herpes virus infection." [] xref: PMID:34804013 is_a: EFO:0004565 ! serum IgG measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0801089 name: anti-influenza A subtype H1N1 IgG measurement def: "Quantification of the IgG antibody isotype produced in response to influenza A subtype H1N1 virus infection." [] xref: PMID:34804013 is_a: EFO:0009354 ! Anti-influenza A virus IgG measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0801090 name: anti-influenza A subtype H3N2 IgG measurement def: "Quantification of the IgG antibody isotype produced in response to influenza A subtype H3N2 virus infection." [] xref: PMID:34804013 is_a: EFO:0009354 ! Anti-influenza A virus IgG measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0801091 name: anti-saccharomyces cerevisiae IgA measurement def: "Quantification of the IgA antibody isotype produced in response to saccharomyces cerevisiae infection." [] xref: PMID:34804013 is_a: EFO:0004912 ! serum IgA measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0801092 name: anti-Theiler's virus IgG measurement def: "Quantification of the IgG antibody isotype produced in response to Theiler's virus infection." [] xref: PMID:34804013 is_a: EFO:0004565 ! serum IgG measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0801093 name: 1-methylguanine measurement def: "Quantification of the amount of 1-methylguanine in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:21803 ! is_about 1-methylguanine property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801094 name: 1-methylguanosine measurement def: "Quantification of the amount of 1-methylguanosine in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:19062 ! is_about 1-methylguanosine property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801095 name: 1-methylhistamine measurement def: "Quantification of the amount of 1-methylhistamine in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801096 name: 11(12)-EET measurement def: "Quantification of the amount of 11(12)-EET in a sample." [] synonym: "11(12)-epoxyeicosatrienoic acid " EXACT [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801097 name: 12-oxo-ETE measurement def: "Quantification of the amount of 12-oxo-ETE in a sample." [] synonym: "12-oxo-eicosatetraenoic acid " EXACT [] xref: PMID:35995766 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:34151 ! is_about 12-oxo-ETE property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801098 name: 14(15)-EET measurement def: "Quantification of the amount of 14(15)-EET in a sample." [] synonym: "14(15)-epoxyeicosatrienoic acid " EXACT [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801099 name: 15-oxo-ETE measurement def: "Quantification of the amount of 15-oxo-ETE in a sample." [] synonym: "15-oxo-eicosatetraenoic acid " EXACT [] xref: PMID:35995766 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:15559 ! is_about 15-oxo-ETE property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801100 name: 2-aminoisobutyric acid measurement def: "Quantification of the amount of 2-aminoisobutyric acid in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement is_a: EFO:0005134 ! amino acid measurement relationship: IAO:0000136 CHEBI:27971 ! is_about 2-aminoisobutyric acid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801101 name: 2-ketoisovaleric acid measurement def: "Quantification of the amount of 2-ketoisovaleric acid in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801102 name: 4-aminohippuric acid measurement def: "Quantification of the amount of 4-aminohippuric acid in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801103 name: 4-hydroxy-3-methylacetophenone measurement def: "Quantification of the amount of 4-hydroxy-3-methylacetophenone in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:166495 ! is_about 4-hydroxy-3-methylacetophenone property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801104 name: 5-hydroxytryptophol measurement def: "Quantification of the amount of 5-hydroxytryptophol in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801105 name: 5-MTHF measurement def: "Quantification of the amount of 5-MTHF in a sample." [] synonym: "5-methyltetrahydrofolate " EXACT [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:20612 ! is_about 5-methyltetrahydrofolate property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801106 name: 5-oxo-ETE measurement def: "Quantification of the amount of 5-oxo-ETE in a sample." [] synonym: "5-oxo-eicosatetraenoic acid " EXACT [] xref: PMID:35995766 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:52449 ! is_about 5-oxo-ETE property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801107 name: acetaminophen glucuronide measurement def: "Quantification of the amount of acetaminophen glucuronide in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801108 name: acetaminophen measurement def: "Quantification of the amount of acetaminophen in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801109 name: aconitic acid measurement def: "Quantification of the amount of aconitic acid in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:22211 ! is_about aconitic acid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801110 name: alpha-glycerophosphocholine measurement def: "Quantification of the amount of alpha-glycerophosphocholine in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801111 name: arachindonoyl phenylalanine measurement def: "Quantification of the amount of arachindonoyl phenylalanine in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801112 name: arecaidine measurement def: "Quantification of the amount of arecaidine in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:2813 ! is_about Arecaidine property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801113 name: aspartic acid measurement def: "Quantification of the amount of aspartic acid in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement is_a: EFO:0005134 ! amino acid measurement relationship: IAO:0000136 CHEBI:22660 ! is_about aspartic acid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801114 name: atenolol measurement def: "Quantification of the amount of atenolol in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:2904 ! is_about atenolol property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801115 name: atorvastatin measurement def: "Quantification of the amount of atorvastatin in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:39548 ! is_about atorvastatin property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801116 name: ATP measurement def: "Quantification of the amount of ATP in a sample." [] synonym: "adenosine triphosphate measurement" EXACT [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement is_a: EFO:0010968 ! phosphate measurement relationship: IAO:0000136 CHEBI:15422 ! is_about ATP property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801117 name: butyric acid measurement def: "Quantification of the amount of butyric acid in a sample." [] xref: PMID:35995766 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:30772 ! is_about butyric acid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801118 name: butyrobetaine measurement def: "Quantification of the amount of butyrobetaine in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801119 name: C10:2 carnitine measurement def: "Quantification of the amount of C10:2 carnitine in a sample." [] synonym: "decadienoylcarnitine " EXACT [] xref: PMID:35995766 is_a: EFO:0010469 ! carnitine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801120 name: C14:0 sphingomyelin measurement def: "Quantification of the amount of C14:0 sphingomyelin in a sample." [] xref: PMID:35995766 is_a: EFO:0010118 ! sphingomyelin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801121 name: C14:2 carnitine measurement def: "Quantification of the amount of C14:2 carnitine in a sample." [] synonym: "tetradecadienoylcarnitine" EXACT [] xref: PMID:35995766 is_a: EFO:0010469 ! carnitine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801122 name: C18 carnitine measurement def: "Quantification of the amount of C18 carnitine in a sample." [] xref: PMID:35995766 is_a: EFO:0010469 ! carnitine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801123 name: C18:1 carnitine measurement def: "Quantification of the amount of C18:1 carnitine in a sample." [] synonym: "octadecenoylcarnitine" EXACT [] xref: PMID:35995766 is_a: EFO:0010469 ! carnitine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801124 name: C18:3 lysophosphatidylethanolamine measurement def: "Quantification of the amount of C18:3 lysophosphatidylethanolamine in a sample." [] xref: PMID:35995766 is_a: EFO:0010225 ! lysophosphatidylethanolamine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801125 name: C20:0 lysophosphatidylethanolamine measurement def: "Quantification of the amount of C20:0 lysophosphatidylethanolamine in a sample." [] xref: PMID:35995766 is_a: EFO:0010225 ! lysophosphatidylethanolamine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801126 name: C20:0 sphingomyelin measurement def: "Quantification of the amount of C20:0 sphingomyelin in a sample." [] xref: PMID:35995766 is_a: EFO:0010118 ! sphingomyelin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801127 name: C20:1 lysophosphatidylethanolamine measurement def: "Quantification of the amount of C20:1 lysophosphatidylethanolamine in a sample." [] xref: PMID:35995766 is_a: EFO:0010225 ! lysophosphatidylethanolamine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801128 name: C3-DC-CH3 carnitine measurement def: "Quantification of the amount of C3-DC-CH3 carnitine in a sample." [] xref: PMID:35995766 is_a: EFO:0010469 ! carnitine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801129 name: C30:0 phosphatidylcholine measurement def: "Quantification of the amount of C30:0 phosphatidylcholine in a sample." [] xref: PMID:35995766 is_a: EFO:0010226 ! phosphatidylcholine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801130 name: C34:0 phosphatidylethanolamine measurement def: "Quantification of the amount of C34:0 phosphatidylethanolamine in a sample." [] xref: PMID:35995766 is_a: EFO:0010228 ! phosphatidylethanolamine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801131 name: C34:1 DAG NH4 measurement def: "Quantification of the amount of C34:1 DAG NH4 in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801132 name: C34:2 phosphatidylethanolamine measurement def: "Quantification of the amount of C34:2 phosphatidylethanolamine in a sample." [] xref: PMID:35995766 is_a: EFO:0010228 ! phosphatidylethanolamine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801133 name: C34:2 phosphatidylethanolamine plasmalogen measurement def: "Quantification of the amount of C34:2 phosphatidylethanolamine plasmalogen in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801134 name: C34:3 phosphatidylcholine plasmalogen measurement def: "Quantification of the amount of C34:3 phosphatidylcholine plasmalogen in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801135 name: C34:3 phosphatidylethanolamine plasmalogen measurement def: "Quantification of the amount of C34:3 phosphatidylethanolamine plasmalogen in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801136 name: C36:2 phosphatidylethanolamine measurement def: "Quantification of the amount of C36:2 phosphatidylethanolamine in a sample." [] xref: PMID:35995766 is_a: EFO:0010228 ! phosphatidylethanolamine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801137 name: C36:2 phosphatidylserine plasmalogen measurement def: "Quantification of the amount of C36:2 phosphatidylserine plasmalogen in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801138 name: C36:3 phosphatidylethanolamine plasmalogen measurement def: "Quantification of the amount of C36:3 phosphatidylethanolamine plasmalogen in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801139 name: C36:3 phosphatidylserine plasmalogen measurement def: "Quantification of the amount of C36:3 phosphatidylserine plasmalogen in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801140 name: C36:4 phosphatidylethanolamine measurement def: "Quantification of the amount of C36:4 phosphatidylethanolamine in a sample." [] xref: PMID:35995766 is_a: EFO:0010228 ! phosphatidylethanolamine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801141 name: C36:5 phosphatidylcholine plasmalogen measurement def: "Quantification of the amount of C36:5 phosphatidylcholine plasmalogen in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801142 name: C36:5 phosphatidylethanolamine plasmalogen measurement def: "Quantification of the amount of C36:5 phosphatidylethanolamine plasmalogen in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801143 name: C38:4 phosphatidylethanolamine measurement def: "Quantification of the amount of C38:4 phosphatidylethanolamine in a sample." [] xref: PMID:35995766 is_a: EFO:0010228 ! phosphatidylethanolamine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801144 name: C38:5 phosphatidylethanolamine plasmalogen measurement def: "Quantification of the amount of C38:5 phosphatidylethanolamine plasmalogen in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801145 name: C38:6 phosphatidylcholine plasmalogen measurement def: "Quantification of the amount of C38:6 phosphatidylcholine plasmalogen in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801146 name: C38:6 phosphatidylethanolamine measurement def: "Quantification of the amount of C38:6 phosphatidylethanolamine in a sample." [] xref: PMID:35995766 is_a: EFO:0010228 ! phosphatidylethanolamine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801147 name: C38:6 phosphatidylethanolamine plasmalogen measurement def: "Quantification of the amount of C38:6 phosphatidylethanolamine plasmalogen in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801148 name: C38:7 phosphatidylcholine plasmalogen measurement def: "Quantification of the amount of C38:7 phosphatidylcholine plasmalogen in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801149 name: C38:7 phosphatidylethanolamine plasmalogen measurement def: "Quantification of the amount of C38:7 phosphatidylethanolamine plasmalogen in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801150 name: C4-OH carnitine measurement def: "Quantification of the amount of C4-OH carnitine in a sample." [] xref: PMID:35995766 is_a: EFO:0010469 ! carnitine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801151 name: C40:6 phosphatidylethanolamine measurement def: "Quantification of the amount of C40:6 phosphatidylethanolamine in a sample." [] xref: PMID:35995766 is_a: EFO:0010228 ! phosphatidylethanolamine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801152 name: C40:7 phosphatidylethanolamine plasmalogen measurement def: "Quantification of the amount of C40:7 phosphatidylethanolamine plasmalogen in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801153 name: C5 carnitine measurement def: "Quantification of the amount of C5 carnitine in a sample." [] xref: PMID:35995766 is_a: EFO:0010469 ! carnitine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801154 name: C7 carnitine measurement def: "Quantification of the amount of C7 carnitine in a sample." [] synonym: "heptanoylcarnitine" EXACT [] xref: PMID:35995766 is_a: EFO:0010469 ! carnitine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801155 name: C9 carnitine measurement def: "Quantification of the amount of C9 carnitine in a sample." [] xref: PMID:35995766 is_a: EFO:0010469 ! carnitine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801156 name: citric acid/isocitric acid measurement def: "Quantification of the amount of citric acid/Isocitric acid in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:30769 ! is_about citric acid relationship: IAO:0000136 CHEBI:30887 ! is_about isocitric acid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801157 name: diacetylspermine measurement def: "Quantification of the amount of diacetylspermine in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:178484 ! is_about Diacetylspermine property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801158 name: DMGV measurement def: "Quantification of the amount of DMGV in a sample." [] synonym: "dimethylguanidino valeric acid" EXACT [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801159 name: fumaric acid measurement def: "Quantification of the amount of fumaric acid in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:18012 ! is_about fumaric acid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801160 name: GABA measurement def: "Quantification of the amount of GABA in a sample." [] synonym: "gamma-aminobutyric acid" EXACT [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement is_a: EFO:0005134 ! amino acid measurement relationship: IAO:0000136 CHEBI:16865 ! is_about gamma-aminobutyric acid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801161 name: gabapentin measurement def: "Quantification of the amount of gabapentin in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement is_a: EFO:0005134 ! amino acid measurement relationship: IAO:0000136 CHEBI:42797 ! is_about gabapentin property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801162 name: reduced glutathione measurement def: "Quantification of the amount of glutathione in the reduced state." [] synonym: "GSH" EXACT [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801163 name: glyceric acid measurement def: "Quantification of the amount of glyceric acid in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:33508 ! is_about glyceric acid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801164 name: glyoxylic acid measurement def: "Quantification of the amount of glyoxylic Acid in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:16891 ! is_about glyoxylic acid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801165 name: guanine measurement def: "Quantification of the amount of guanine in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:16235 ! is_about guanine property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801166 name: HETE measurement def: "Quantification of the amount of HETE in a sample." [] synonym: "hydroxyeicosatetraenoic acid" EXACT [] xref: PMID:35995766 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:36275 ! is_about HETE property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801167 name: homogentisic acid measurement def: "Quantification of the amount of homogentisic acid in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:44747 ! is_about homogentisic acid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801168 name: hydroxyectoine measurement def: "Quantification of the amount of hydroxyectoine in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801169 name: hydroxyphenylpyruvic acid measurement def: "Quantification of the amount of hydroxyphenylpyruvic acid in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:167876 ! is_about Hydroxyphenylpyruvic acid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801170 name: indole-3-carboxylic acid measurement def: "Quantification of the amount of indole-3-carboxylic acid in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:24809 ! is_about indole-3-carboxylic acid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801171 name: indole-3-lactic acid measurement def: "Quantification of the amount of indole-3-lactic acid in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801172 name: indole-3-propanoic acid measurement def: "Quantification of the amount of indole-3-propanoic acid in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801173 name: keto-isocaproic acid KIC / keto-methylvalerate KMV measurement def: "Quantification of the amount of keto-isocaproic acid KIC / keto-methylvalerate KMV in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801174 name: lactic acid measurement def: "Quantification of the amount of lactic acid in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801175 name: lisinopril measurement def: "Quantification of the amount of lisinopril in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:43755 ! is_about lisinopril property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801176 name: malonic acid measurement def: "Quantification of the amount of malonic acid in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:30794 ! is_about malonic acid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801177 name: metformin measurement def: "Quantification of the amount of metformin in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:6801 ! is_about metformin property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801178 name: methylhistidine measurement def: "Quantification of the amount of methylhistidine in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:137682 ! is_about methylhistidine property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801179 name: metoprolol measurement def: "Quantification of the amount of metoprolol in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:6904 ! is_about metoprolol property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801180 name: metronidazole measurement def: "Quantification of the amount of metronidazole in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:6909 ! is_about metronidazole property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801181 name: N-acetyl-L-aspartic acid measurement def: "Quantification of the amount of N-acetyl-L-aspartic acid in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:21547 ! is_about N-acetyl-L-aspartic acid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801182 name: N-acetyl-L-glutamic acid measurement def: "Quantification of the amount of N-acetyl-L-glutamic acid in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:17533 ! is_about N-acetyl-L-glutamic acid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801183 name: N-acetylaspartic acid measurement def: "Quantification of the amount of N-acetylaspartic acid in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801184 name: N-arachidonoyl dopamine measurement def: "Quantification of the amount of N-arachidonoyl dopamine in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801185 name: N-arachidonoyl taurine measurement def: "Quantification of the amount of N-arachidonoyl taurine in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801186 name: N-carbamoyl-beta-alanine measurement def: "Quantification of the amount of N-carbamoyl-beta-alanine in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:18261 ! is_about N-carbamoyl-beta-alanine property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801187 name: N-docosanoyl taurine measurement def: "Quantification of the amount of N-docosanoyl taurine in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801188 name: N-lauroylglycine measurement def: "Quantification of the amount of N-lauroylglycine in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801189 name: N-lignoceroyl taurine measurement def: "Quantification of the amount of N-lignoceroyl taurine in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801190 name: N-nervonoyl taurine measurement def: "Quantification of the amount of N-nervonoyl taurine in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801191 name: N-oleoyl taurine measurement def: "Quantification of the amount of N-oleoyl taurine in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801192 name: N-palmitoyl taurine measurement def: "Quantification of the amount of N-palmitoyl taurine in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801193 name: N1-acetylspermidine measurement def: "Quantification of the amount of N1-acetylspermidine in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801194 name: Na_C34:1 DAG_or_TAG_fragment measurement def: "Quantification of the amount of Na_C34:1 DAG_or_TAG_fragment in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801195 name: Na_C34:2 DAG_or_TAG_fragment measurement def: "Quantification of the amount of Na_C34:2 DAG_or_TAG_fragment in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801196 name: NH4_C34:2 DAG_or_TAG_fragment measurement def: "Quantification of the amount of NH4_C34:2 DAG_or_TAG_fragment in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801197 name: NH4_C34:3 DAG_or_TAG_fragment measurement def: "Quantification of the amount of NH4_C34:3 DAG_or_TAG_fragment in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801198 name: NH4_C36:2 DAG_or_TAG_fragment measurement def: "Quantification of the amount of NH4_C36:2 DAG_or_TAG_fragment in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801199 name: NH4_C36:3 DAG_or_TAG_fragment measurement def: "Quantification of the amount of NH4_C36:3 DAG_or_TAG_fragment in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801200 name: NH4_C36:4 DAG_or_TAG_fragment measurement def: "Quantification of the amount of NH4_C36:4 DAG_or_TAG_fragment in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801201 name: NH4_C38:5 DAG_or_TAG_fragment measurement def: "Quantification of the amount of NH4_C38:5 DAG_or_TAG_fragment in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801202 name: NH4_C44:1 TAG measurement def: "Quantification of the amount of NH4_C44:1 TAG in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801203 name: NH4_C44:2 TAG measurement def: "Quantification of the amount of NH4_C44:2 TAG in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801204 name: NH4_C46:2 TAG measurement def: "Quantification of the amount of NH4_C46:2 TAG in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801205 name: NH4_C46:3 TAG measurement def: "Quantification of the amount of NH4_C46:3 TAG in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801206 name: NMMA measurement def: "Quantification of the amount of NMMA in a sample." [] synonym: "N-methylmalonamic acid" EXACT [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801207 name: oleoyl glycine measurement def: "Quantification of the amount of oleoyl glycine in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801208 name: oleoyl leucine measurement def: "Quantification of the amount of oleoyl leucine in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801209 name: oleoyl phenylalanine measurement def: "Quantification of the amount of oleoyl phenylalanine in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801210 name: oleoyl serine measurement def: "Quantification of the amount of oleoyl serine in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801211 name: oxalic acid measurement def: "Quantification of the amount of oxalic acid in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:16995 ! is_about oxalic acid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801212 name: oxaloacetic acid measurement def: "Quantification of the amount of oxaloacetic acid in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:30744 ! is_about oxaloacetic acid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801213 name: oxypurinol measurement def: "Quantification of the amount of oxypurinol in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801214 name: phenylalanine-d8 measurement def: "Quantification of the amount of phenylalanine-d8 in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:176650 ! is_about Phenylalanine-d8 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801215 name: pravastatin measurement def: "Quantification of the amount of pravastatin in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:63618 ! is_about pravastatin property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801216 name: pro-gly measurement def: "Quantification of the amount of pro-gly in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801217 name: pyruvic acid measurement def: "Quantification of the amount of pyruvic acid in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:32816 ! is_about pyruvic acid property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801218 name: quinine measurement def: "Quantification of the amount of quinine in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:15854 ! is_about quinine property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801219 name: simvastatin measurement def: "Quantification of the amount of simvastatin in a sample." [] xref: PMID:35995766 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:9150 ! is_about simvastatin property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801220 name: stearic acid measurement def: "Quantification of the amount of stearic acid in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801221 name: trimethylbenzene measurement def: "Quantification of the amount of trimethylbenzene in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:38641 ! is_about trimethylbenzene property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801222 name: UDP-GlcNAc measurement def: "Quantification of the amount of UDP-GlcNAc in a sample." [] synonym: "uridine-diphosphate-N-acetylglucosamine" EXACT [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801223 name: valine-d8 measurement def: "Quantification of the amount of valine-d8 in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:176648 ! is_about Valine-d8 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801224 name: valsartan measurement def: "Quantification of the amount of valsartan in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:9927 ! is_about valsartan property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801225 name: verapamil measurement def: "Quantification of the amount of verapamil in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:9948 ! is_about verapamil property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801226 name: warfarin measurement def: "Quantification of the amount of warfarin in a sample." [] xref: PMID:35995766 is_a: EFO:0004725 ! metabolite measurement relationship: IAO:0000136 CHEBI:10033 ! is_about warfarin property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801227 name: body shape measurement def: "Quantification of body shape, which may be derived from principal component analysis (PCA) of anthropometric traits such as BMI, weight, hip circumference and waist circumference." [] xref: PMID:35461751 is_a: EFO:0004302 ! anthropometric measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0801228 name: skin microbiome measurement def: "Quantification of some aspect of an individual's microbiome of the skin." [] synonym: "skin microbiota measurement" EXACT [] xref: PMID:36261456 is_a: EFO:0007882 ! microbiome measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0801229 name: oral microbiome measurement def: "Quantification of some aspect of an individual's oral microbiome." [] synonym: "oral microbiota measurement" EXACT [] synonym: "salivary microbiome measurement" EXACT [] xref: PMID:34875929 is_a: EFO:0007882 ! microbiome measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0801230 name: visfatin measurement def: "Quantification of the amount of visfatin in a sample." [] synonym: "nicotinamide phosphoribosyltransferase" EXACT [] synonym: "pre-B-cell colony-enhancing factor 1" EXACT [] xref: NCIT:C30138 xref: PMID:34620218 is_a: EFO:0004873 ! cytokine measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0801231 name: decadienylcarnitine measurement def: "Quantification of decadienylcarnitine measurement in a sample." [] synonym: "O-linoleyl-L-carnitine" EXACT [] xref: PMID:26068415 is_a: EFO:0004529 ! lipid measurement is_a: EFO:0005059 ! acylcarnitine measurement relationship: IAO:0000136 CHEBI:84098 ! is_about O-linoleyl-L-carnitine property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801232 name: hydroxytetradecenoylcarnitine measurement def: "Quantification of hydroxytetradecenoylcarnitine measurement in a sample." [] xref: PMID:26068415 is_a: EFO:0005059 ! acylcarnitine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801233 name: tetradecadienylcarnitine measurement def: "Quantification of tetradecadienylcarnitine measurement in a sample." [] xref: PMID:26068415 is_a: EFO:0005059 ! acylcarnitine measurement relationship: IAO:0000136 CHEBI:192093 ! is_about tetradecadienylcarnitine property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801234 name: octadecenoylcarnitine measurement def: "Quantification of octadecenoylcarnitine measurement in a sample." [] xref: PMID:26068415 is_a: EFO:0005059 ! acylcarnitine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801235 name: octadecadienylcarnitine measurement def: "Quantification of octadecadienylcarnitine measurement in a sample." [] xref: PMID:26068415 is_a: EFO:0005059 ! acylcarnitine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801236 name: hydroxypropionylcarnitine measurement def: "Quantification of hydroxypropionylcarnitine measurement in a sample." [] xref: PMID:26068415 is_a: EFO:0005059 ! acylcarnitine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801237 name: glutaconylcarnitine measurement def: "Quantification of glutaconylcarnitine measurement in a sample." [] xref: PMID:26068415 is_a: EFO:0005059 ! acylcarnitine measurement relationship: IAO:0000136 CHEBI:174593 ! is_about Glutaconylcarnitine property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801238 name: pimelylcarnitine measurement def: "Quantification of pimelylcarnitine measurement in a sample." [] xref: PMID:26068415 is_a: EFO:0005059 ! acylcarnitine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801239 name: octenoylcarnitine measurement def: "Quantification of octenoylcarnitine measurement in a sample." [] xref: PMID:26068415 is_a: EFO:0005059 ! acylcarnitine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801240 name: nonaylcarnitine measurement def: "Quantification of nonaylcarnitine measurement in a sample." [] xref: PMID:26068415 is_a: EFO:0005059 ! acylcarnitine measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801241 name: lysophosphatidylcholine acyl C16:0 measurement def: "Quantification of lysophosphatidylcholine acyl C16:0 measurement in a sample." [] synonym: "lysophosphatidylcholine 16:0" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:64563 ! is_about lysophosphatidylcholine 16:0 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801242 name: lysophosphatidylcholine acyl C17:0 measurement def: "Quantification of lysophosphatidylcholine acyl C17:0 measurement in a sample." [] synonym: "lysophosphatidylcholine 17:0" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:72737 ! is_about lysophosphatidylcholine 17:0 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801243 name: lysophosphatidylcholine acyl C28:0 measurement def: "Quantification of lysophosphatidylcholine acyl C28:0 measurement in a sample." [] synonym: "lysophosphatidylcholine 28:0" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:85561 ! is_about lysophosphatidylcholine 28:0 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801244 name: lysophosphatidylcholine acyl C28:1 measurement def: "Quantification of lysophosphatidylcholine acyl C28:1 measurement in a sample." [] synonym: "lysophosphatidylcholine 28:1" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:85562 ! is_about lysophosphatidylcholine 28:1 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801245 name: phosphatidylcholine diacyl C24:0 measurement def: "Quantification of phosphatidylcholine diacyl C24:0 measurement in a sample." [] synonym: "phosphatidylcholine 24:0" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:85564 ! is_about phosphatidylcholine 24:0 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801246 name: phosphatidylcholine diacyl C28:1 measurement def: "Quantification of phosphatidylcholine diacyl C28:1 measurement in a sample." [] synonym: "phosphatidylcholine 28:1" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:65293 ! is_about phosphatidylcholine 28:1 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801247 name: phosphatidylcholine diacyl C30:0 measurement def: "Quantification of phosphatidylcholine diacyl C30:0 measurement in a sample." [] synonym: "phosphatidylcholine 30:0" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:65303 ! is_about phosphatidylcholine 30:0 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801248 name: phosphatidylcholine diacyl C32:0 measurement def: "Quantification of phosphatidylcholine diacyl C32:0 measurement in a sample." [] synonym: "phosphatidylcholine 32:0" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:66850 ! is_about phosphatidylcholine 32:0 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801249 name: phosphatidylcholine diacyl C32:1 measurement def: "Quantification of phosphatidylcholine diacyl C32:1 measurement in a sample." [] synonym: "phosphatidylcholine 32:1" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:66849 ! is_about phosphatidylcholine 32:1 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801250 name: phosphatidylcholine diacyl C32:2 measurement def: "Quantification of phosphatidylcholine diacyl C32:2 measurement in a sample." [] synonym: "phosphatidylcholine 32:2" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:66848 ! is_about phosphatidylcholine 32:2 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801251 name: phosphatidylcholine diacyl C32:3 measurement def: "Quantification of phosphatidylcholine diacyl C32:3 measurement in a sample." [] synonym: "phosphatidylcholine 32:3" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:66847 ! is_about phosphatidylcholine 32:3 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801252 name: phosphatidylcholine diacyl C34:1 measurement def: "Quantification of phosphatidylcholine diacyl C34:1 measurement in a sample." [] synonym: "phosphatidylcholine 34:1" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:64517 ! is_about phosphatidylcholine 34:1 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801253 name: phosphatidylcholine diacyl C34:2 measurement def: "Quantification of phosphatidylcholine diacyl C34:2 measurement in a sample." [] synonym: "phosphatidylcholine 34:2" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:64516 ! is_about phosphatidylcholine 34:2 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801254 name: phosphatidylcholine diacyl C34:3 measurement def: "Quantification of phosphatidylcholine diacyl C34:3 measurement in a sample." [] synonym: "phosphatidylcholine 34:3" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:64424 ! is_about phosphatidylcholine 34:3 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801255 name: phosphatidylcholine diacyl C34:4 measurement def: "Quantification of phosphatidylcholine diacyl C34:4 measurement in a sample." [] synonym: "phosphatidylcholine 34:4" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:64423 ! is_about phosphatidylcholine 34:4 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801256 name: phosphatidylcholine diacyl C36:0 measurement def: "Quantification of phosphatidylcholine diacyl C36:0 measurement in a sample." [] synonym: "phosphatidylcholine 36:0" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:66858 ! is_about phosphatidylcholine 36:0 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801257 name: phosphatidylcholine diacyl C36:1 measurement def: "Quantification of phosphatidylcholine diacyl C36:1 measurement in a sample." [] synonym: "phosphatidylcholine 36:1" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:66857 ! is_about phosphatidylcholine 36:1 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801258 name: phosphatidylcholine diacyl C36:2 measurement def: "Quantification of phosphatidylcholine diacyl C36:2 measurement in a sample." [] synonym: "phosphatidylcholine 36:2" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:64433 ! is_about phosphatidylcholine 36:2 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801259 name: phosphatidylcholine diacyl C36:3 measurement def: "Quantification of phosphatidylcholine diacyl C36:3 measurement in a sample." [] synonym: "phosphatidylcholine 36:3" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:64523 ! is_about phosphatidylcholine 36:3 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801260 name: phosphatidylcholine diacyl C36:4 measurement def: "Quantification of phosphatidylcholine diacyl C36:4 measurement in a sample." [] synonym: "phosphatidylcholine 36:4" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:64520 ! is_about phosphatidylcholine 36:4 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801261 name: phosphatidylcholine diacyl C36:5 measurement def: "Quantification of phosphatidylcholine diacyl C36:5 measurement in a sample." [] synonym: "phosphatidylcholine 36:5" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:64504 ! is_about phosphatidylcholine 36:5 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801262 name: phosphatidylcholine diacyl C36:6 measurement def: "Quantification of phosphatidylcholine diacyl C36:6 measurement in a sample." [] synonym: "phosphatidylcholine 36:6" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:66856 ! is_about phosphatidylcholine 36:6 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801263 name: phosphatidylcholine diacyl C38:0 measurement def: "Quantification of phosphatidylcholine diacyl C38:0 measurement in a sample." [] synonym: "phosphatidylcholine 38:0" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:66861 ! is_about phosphatidylcholine 38:0 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801264 name: phosphatidylcholine diacyl C38:1 measurement def: "Quantification of phosphatidylcholine diacyl C38:1 measurement in a sample." [] synonym: "phosphatidylcholine 38:1" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:66860 ! is_about phosphatidylcholine 38:1 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801265 name: phosphatidylcholine diacyl C38:3 measurement def: "Quantification of phosphatidylcholine diacyl C38:3 measurement in a sample." [] synonym: "phosphatidylcholine 38:3" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:64446 ! is_about phosphatidylcholine 38:3 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801266 name: phosphatidylcholine diacyl C38:4 measurement def: "Quantification of phosphatidylcholine diacyl C38:4 measurement in a sample." [] synonym: "phosphatidylcholine 38:4" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:64526 ! is_about phosphatidylcholine 38:4 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801267 name: phosphatidylcholine diacyl C38:5 measurement def: "Quantification of phosphatidylcholine diacyl C38:5 measurement in a sample." [] synonym: "phosphatidylcholine 38:5" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:64525 ! is_about phosphatidylcholine 38:5 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801268 name: phosphatidylcholine diacyl C38:6 measurement def: "Quantification of phosphatidylcholine diacyl C38:6 measurement in a sample." [] synonym: "phosphatidylcholine 38:6" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:64519 ! is_about phosphatidylcholine 38:6 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801269 name: phosphatidylcholine diacyl C40:1 measurement def: "Quantification of phosphatidylcholine diacyl C40:1 measurement in a sample." [] synonym: "phosphatidylcholine 40:1" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:66865 ! is_about phosphatidylcholine 40:1 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801270 name: phosphatidylcholine diacyl C40:2 measurement def: "Quantification of phosphatidylcholine diacyl C40:2 measurement in a sample." [] synonym: "phosphatidylcholine 40:2" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:66864 ! is_about phosphatidylcholine 40:2 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801271 name: phosphatidylcholine diacyl C40:3 measurement def: "Quantification of phosphatidylcholine diacyl C40:3 measurement in a sample." [] synonym: "phosphatidylcholine 40:3" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:66863 ! is_about phosphatidylcholine 40:3 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801272 name: phosphatidylcholine diacyl C40:4 measurement def: "Quantification of phosphatidylcholine diacyl C40:4 measurement in a sample." [] synonym: "phosphatidylcholine 40:4" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:66862 ! is_about phosphatidylcholine 40:4 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801273 name: phosphatidylcholine diacyl C40:5 measurement def: "Quantification of phosphatidylcholine diacyl C40:5 measurement in a sample." [] synonym: "phosphatidylcholine 40:5" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:64524 ! is_about phosphatidylcholine 40:5 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801274 name: phosphatidylcholine diacyl C40:6 measurement def: "Quantification of phosphatidylcholine diacyl C40:6 measurement in a sample." [] synonym: "phosphatidylcholine 40:6" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:64431 ! is_about phosphatidylcholine 40:6 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801275 name: phosphatidylcholine diacyl C42:0 measurement def: "Quantification of phosphatidylcholine diacyl C42:0 measurement in a sample." [] synonym: "phosphatidylcholine 42:0" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:66971 ! is_about phosphatidylcholine 42:0 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801276 name: phosphatidylcholine diacyl C42:1 measurement def: "Quantification of phosphatidylcholine diacyl C42:1 measurement in a sample." [] synonym: "phosphatidylcholine 42:1" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:66970 ! is_about phosphatidylcholine 42:1 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801277 name: phosphatidylcholine diacyl C42:2 measurement def: "Quantification of phosphatidylcholine diacyl C42:2 measurement in a sample." [] synonym: "phosphatidylcholine 42:2" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:66969 ! is_about phosphatidylcholine 42:2 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801278 name: phosphatidylcholine diacyl C42:4 measurement def: "Quantification of phosphatidylcholine diacyl C42:4 measurement in a sample." [] synonym: "phosphatidylcholine 42:4" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:66967 ! is_about phosphatidylcholine 42:4 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801279 name: phosphatidylcholine diacyl C42:5 measurement def: "Quantification of phosphatidylcholine diacyl C42:5 measurement in a sample." [] synonym: "phosphatidylcholine 42:5" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:66966 ! is_about phosphatidylcholine 42:5 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801280 name: phosphatidylcholine diacyl C42:6 measurement def: "Quantification of phosphatidylcholine diacyl C42:6 measurement in a sample." [] synonym: "phosphatidylcholine 42:6" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:66965 ! is_about phosphatidylcholine 42:6 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801281 name: phosphatidylcholine acyl-alkyl C30:0 measurement def: "Quantification of phosphatidylcholine acyl-alkyl C30:0 measurement in a sample." [] synonym: "phosphatidylcholine O-30:0" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:85565 ! is_about phosphatidylcholine O-30:0 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801282 name: phosphatidylcholine acyl-alkyl C32:1 measurement def: "Quantification of phosphatidylcholine acyl-alkyl C32:1 measurement in a sample." [] synonym: "phosphatidylcholine O-32:1" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:72347 ! is_about phosphatidylcholine O-32:1 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801283 name: phosphatidylcholine acyl-alkyl C32:2 measurement def: "Quantification of phosphatidylcholine acyl-alkyl C32:2 measurement in a sample." [] synonym: "phosphatidylcholine O-32:2" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:85568 ! is_about phosphatidylcholine O-32:2 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801284 name: phosphatidylcholine acyl-alkyl C34:0 measurement def: "Quantification of phosphatidylcholine acyl-alkyl C34:0 measurement in a sample." [] synonym: "phosphatidylcholine O-34:0" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:67077 ! is_about phosphatidylcholine O-34:0 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801285 name: phosphatidylcholine acyl-alkyl C34:1 measurement def: "Quantification of phosphatidylcholine acyl-alkyl C34:1 measurement in a sample." [] synonym: "phosphatidylcholine O-34:1" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:67076 ! is_about phosphatidylcholine O-34:1 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801286 name: phosphatidylcholine acyl-alkyl C34:2 measurement def: "Quantification of phosphatidylcholine acyl-alkyl C34:2 measurement in a sample." [] synonym: "phosphatidylcholine O-34:2" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:64544 ! is_about phosphatidylcholine O-34:2 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801287 name: phosphatidylcholine acyl-alkyl C34:3 measurement def: "Quantification of phosphatidylcholine acyl-alkyl C34:3 measurement in a sample." [] synonym: "phosphatidylcholine O-34:3" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:64541 ! is_about phosphatidylcholine O-34:3 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801288 name: phosphatidylcholine acyl-alkyl C36:0 measurement def: "Quantification of phosphatidylcholine acyl-alkyl C36:0 measurement in a sample." [] synonym: "phosphatidylcholine O-36:0" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:67067 ! is_about phosphatidylcholine O-36:0 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801289 name: phosphatidylcholine acyl-alkyl C36:1 measurement def: "Quantification of phosphatidylcholine acyl-alkyl C36:1 measurement in a sample." [] synonym: "phosphatidylcholine O-36:1" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:67066 ! is_about phosphatidylcholine O-36:1 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801290 name: phosphatidylcholine acyl-alkyl C36:2 measurement def: "Quantification of phosphatidylcholine acyl-alkyl C36:2 measurement in a sample." [] synonym: "phosphatidylcholine O-36:2" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:67065 ! is_about phosphatidylcholine O-36:2 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801291 name: phosphatidylcholine acyl-alkyl C36:3 measurement def: "Quantification of phosphatidylcholine acyl-alkyl C36:3 measurement in a sample." [] synonym: "phosphatidylcholine O-36:3" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:64537 ! is_about phosphatidylcholine O-36:3 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801292 name: phosphatidylcholine acyl-alkyl C36:4 measurement def: "Quantification of phosphatidylcholine acyl-alkyl C36:4 measurement in a sample." [] synonym: "phosphatidylcholine O-36:4" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:67064 ! is_about phosphatidylcholine O-36:4 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801293 name: phosphatidylcholine acyl-alkyl C36:5 measurement def: "Quantification of phosphatidylcholine acyl-alkyl C36:5 measurement in a sample." [] synonym: "phosphatidylcholine O-36:5" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:64540 ! is_about phosphatidylcholine O-36:5 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801294 name: phosphatidylcholine acyl-alkyl C38:0 measurement def: "Quantification of phosphatidylcholine acyl-alkyl C38:0 measurement in a sample." [] synonym: "phosphatidylcholine O-38:0" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:67071 ! is_about phosphatidylcholine O-38:0 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801295 name: phosphatidylcholine acyl-alkyl C38:1 measurement def: "Quantification of phosphatidylcholine acyl-alkyl C38:1 measurement in a sample." [] synonym: "phosphatidylcholine O-38:1" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:67070 ! is_about phosphatidylcholine O-38:1 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801296 name: phosphatidylcholine acyl-alkyl C38:2 measurement def: "Quantification of phosphatidylcholine acyl-alkyl C38:2 measurement in a sample." [] synonym: "phosphatidylcholine O-38:2" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:67069 ! is_about phosphatidylcholine O-38:2 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801297 name: phosphatidylcholine acyl-alkyl C38:3 measurement def: "Quantification of phosphatidylcholine acyl-alkyl C38:3 measurement in a sample." [] synonym: "phosphatidylcholine O-38:3" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:67068 ! is_about phosphatidylcholine O-38:3 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801298 name: phosphatidylcholine acyl-alkyl C38:4 measurement def: "Quantification of phosphatidylcholine acyl-alkyl C38:4 measurement in a sample." [] synonym: "phosphatidylcholine O-38:4" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:64480 ! is_about phosphatidylcholine O-38:4 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801299 name: phosphatidylcholine acyl-alkyl C38:5 measurement def: "Quantification of phosphatidylcholine acyl-alkyl C38:5 measurement in a sample." [] synonym: "phosphatidylcholine O-38:5" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:64445 ! is_about phosphatidylcholine O-38:5 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801300 name: phosphatidylcholine acyl-alkyl C38:6 measurement def: "Quantification of phosphatidylcholine acyl-alkyl C38:6 measurement in a sample." [] synonym: "phosphatidylcholine O-38:6" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:64536 ! is_about phosphatidylcholine O-38:6 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801301 name: phosphatidylcholine acyl-alkyl C40:1 measurement def: "Quantification of phosphatidylcholine acyl-alkyl C40:1 measurement in a sample." [] synonym: "phosphatidylcholine O-40:1" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:85574 ! is_about phosphatidylcholine O-40:1 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801302 name: phosphatidylcholine acyl-alkyl C40:2 measurement def: "Quantification of phosphatidylcholine acyl-alkyl C40:2 measurement in a sample." [] synonym: "phosphatidylcholine O-40:2" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:72348 ! is_about phosphatidylcholine O-40:2 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801303 name: phosphatidylcholine acyl-alkyl C40:3 measurement def: "Quantification of phosphatidylcholine acyl-alkyl C40:3 measurement in a sample." [] synonym: "phosphatidylcholine O-40:3" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:85570 ! is_about phosphatidylcholine O-40:3 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801304 name: phosphatidylcholine acyl-alkyl C40:4 measurement def: "Quantification of phosphatidylcholine acyl-alkyl C40:4 measurement in a sample." [] synonym: "phosphatidylcholine O-40:4" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:85571 ! is_about phosphatidylcholine O-40:4 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801305 name: phosphatidylcholine acyl-alkyl C40:5 measurement def: "Quantification of phosphatidylcholine acyl-alkyl C40:5 measurement in a sample." [] synonym: "phosphatidylcholine O-40:5" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:85573 ! is_about phosphatidylcholine O-40:5 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801306 name: phosphatidylcholine acyl-alkyl C40:6 measurement def: "Quantification of phosphatidylcholine acyl-alkyl C40:6 measurement in a sample." [] synonym: "phosphatidylcholine O-40:6" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:64533 ! is_about phosphatidylcholine O-40:6 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801307 name: phosphatidylcholine acyl-alkyl C42:0 measurement def: "Quantification of phosphatidylcholine acyl-alkyl C42:0 measurement in a sample." [] synonym: "phosphatidylcholine O-42:0" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:85582 ! is_about phosphatidylcholine O-42:0 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801308 name: phosphatidylcholine acyl-alkyl C42:1 measurement def: "Quantification of phosphatidylcholine acyl-alkyl C42:1 measurement in a sample." [] synonym: "phosphatidylcholine O-42:1" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:85583 ! is_about phosphatidylcholine O-42:1 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801309 name: phosphatidylcholine acyl-alkyl C42:2 measurement def: "Quantification of phosphatidylcholine acyl-alkyl C42:2 measurement in a sample." [] synonym: "phosphatidylcholine O-42:2" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:85584 ! is_about phosphatidylcholine O-42:2 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801310 name: phosphatidylcholine acyl-alkyl C42:3 measurement def: "Quantification of phosphatidylcholine acyl-alkyl C42:3 measurement in a sample." [] synonym: "phosphatidylcholine O-42:3" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:85585 ! is_about phosphatidylcholine O-42:3 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801311 name: phosphatidylcholine acyl-alkyl C42:4 measurement def: "Quantification of phosphatidylcholine acyl-alkyl C42:4 measurement in a sample." [] synonym: "phosphatidylcholine O-42:4" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:85588 ! is_about phosphatidylcholine O-42:4 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801312 name: phosphatidylcholine acyl-alkyl C42:5 measurement def: "Quantification of phosphatidylcholine acyl-alkyl C42:5 measurement in a sample." [] synonym: "phosphatidylcholine O-42:5" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:85590 ! is_about phosphatidylcholine O-42:5 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801313 name: phosphatidylcholine acyl-alkyl C44:3 measurement def: "Quantification of phosphatidylcholine acyl-alkyl C44:3 measurement in a sample." [] synonym: "phosphatidylcholine O-44:3" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:67085 ! is_about phosphatidylcholine O-44:3 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801314 name: phosphatidylcholine acyl-alkyl C44:4 measurement def: "Quantification of phosphatidylcholine acyl-alkyl C44:4 measurement in a sample." [] synonym: "phosphatidylcholine O-44:4" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:67084 ! is_about phosphatidylcholine O-44:4 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801315 name: phosphatidylcholine acyl-alkyl C44:5 measurement def: "Quantification of phosphatidylcholine acyl-alkyl C44:5 measurement in a sample." [] synonym: "phosphatidylcholine O-44:5" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:67083 ! is_about phosphatidylcholine O-44:5 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801316 name: phosphatidylcholine acyl-alkyl C44:6 measurement def: "Quantification of phosphatidylcholine acyl-alkyl C44:6 measurement in a sample." [] synonym: "phosphatidylcholine O-44:6" EXACT [] xref: PMID:26068415 is_a: EFO:0007630 ! glycerophospholipid measurement relationship: IAO:0000136 CHEBI:67082 ! is_about phosphatidylcholine O-44:6 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801317 name: sphingomyeline C16:0 measurement def: "Quantification of sphingomyeline C16:0 measurement in a sample." [] xref: PMID:26068415 is_a: EFO:0004622 ! sphingolipid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801318 name: sphingomyeline C16:1 measurement def: "Quantification of sphingomyeline C16:1 measurement in a sample." [] xref: PMID:26068415 is_a: EFO:0004622 ! sphingolipid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801319 name: sphingomyeline C18:0 measurement def: "Quantification of sphingomyeline C18:0 measurement in a sample." [] xref: PMID:26068415 is_a: EFO:0004622 ! sphingolipid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801320 name: sphingomyeline C18:1 measurement def: "Quantification of sphingomyeline C18:1 measurement in a sample." [] xref: PMID:26068415 is_a: EFO:0004622 ! sphingolipid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801321 name: sphingomyeline C20:2 measurement def: "Quantification of sphingomyeline C20:2 measurement in a sample." [] xref: PMID:26068415 is_a: EFO:0004622 ! sphingolipid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801322 name: sphingomyeline C24:0 measurement def: "Quantification of sphingomyeline C24:0 measurement in a sample." [] xref: PMID:26068415 is_a: EFO:0004622 ! sphingolipid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801323 name: sphingomyeline C24:1 measurement def: "Quantification of sphingomyeline C24:1 measurement in a sample." [] xref: PMID:26068415 is_a: EFO:0004622 ! sphingolipid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801324 name: sphingomyeline C26:0 measurement def: "Quantification of sphingomyeline C26:0 measurement in a sample." [] xref: PMID:26068415 is_a: EFO:0004622 ! sphingolipid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801325 name: sphingomyeline C26:1 measurement def: "Quantification of sphingomyeline C26:1 measurement in a sample." [] xref: PMID:26068415 is_a: EFO:0004622 ! sphingolipid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801326 name: hydroxysphingomyeline C14:1 measurement def: "Quantification of hydroxysphingomyeline C14:1 measurement in a sample." [] xref: PMID:26068415 is_a: EFO:0004622 ! sphingolipid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801327 name: hydroxysphingomyeline C16:1 measurement def: "Quantification of hydroxysphingomyeline C16:1 measurement in a sample." [] xref: PMID:26068415 is_a: EFO:0004622 ! sphingolipid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801328 name: hydroxysphingomyeline C22:1 measurement def: "Quantification of hydroxysphingomyeline C22:1 measurement in a sample." [] xref: PMID:26068415 is_a: EFO:0004622 ! sphingolipid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801329 name: hydroxysphingomyeline C22:2 measurement def: "Quantification of hydroxysphingomyeline C22:2 measurement in a sample." [] xref: PMID:26068415 is_a: EFO:0004622 ! sphingolipid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801330 name: hydroxysphingomyeline C24:1 measurement def: "Quantification of hydroxysphingomyeline C24:1 measurement in a sample." [] xref: PMID:26068415 is_a: EFO:0004622 ! sphingolipid measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801331 name: 26S proteasome non-ATPase regulatory subunit 5 measurement def: "Quantification of 26S proteasome non-ATPase regulatory subunit 5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801332 name: 39S ribosomal protein L33, mitochondrial measurement def: "Quantification of 39S ribosomal protein L33, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801333 name: 40S ribosomal protein S3a measurement def: "Quantification of 40S ribosomal protein S3a in a sample." [] xref: PMID:29875488 is_a: EFO:0020117 ! 40s ribosomal protein S3 measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801334 name: 40S ribosomal protein S4, X isoform measurement def: "Quantification of 40S ribosomal protein S4, X isoform in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801335 name: 5-formyltetrahydrofolate cyclo-ligase measurement def: "Quantification of 5-formyltetrahydrofolate cyclo-ligase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801336 name: 5'(3')-deoxyribonucleotidase, cytosolic type measurement def: "Quantification of 5'(3')-deoxyribonucleotidase, cytosolic type in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801337 name: 60S ribosomal protein L30 measurement def: "Quantification of 60S ribosomal protein L30 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801338 name: a disintegrin and metalloproteinase with thrombospondin motifs 6 measurement def: "Quantification of a disintegrin and metalloproteinase with thrombospondin motifs 6 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801339 name: acid ceramidase measurement def: "Quantification of acid ceramidase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801340 name: activating signal cointegrator 1 complex subunit 1 measurement def: "Quantification of activating signal cointegrator 1 complex subunit 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801341 name: activator of 90 kDa heat shock protein ATPase homolog 1 measurement def: "Quantification of activator of 90 kDa heat shock protein ATPase homolog 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801342 name: acyl-CoA-binding domain-containing protein 6 measurement def: "Quantification of acyl-CoA-binding domain-containing protein 6 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801343 name: acyl-CoA-binding domain-containing protein 7 measurement def: "Quantification of acyl-CoA-binding domain-containing protein 7 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801344 name: acylphosphatase-2 measurement def: "Quantification of acylphosphatase-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801345 name: adenylosuccinate synthetase isozyme 2 measurement def: "Quantification of adenylosuccinate synthetase isozyme 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801346 name: adhesion G protein-coupled receptor F5 measurement def: "Quantification of adhesion G protein-coupled receptor F5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801347 name: adhesion G-protein coupled receptor F1 measurement def: "Quantification of adhesion G-protein coupled receptor F1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801348 name: adipocyte plasma membrane-associated protein measurement def: "Quantification of adipocyte plasma membrane-associated protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801349 name: ADP-ribose pyrophosphatase, mitochondrial measurement def: "Quantification of ADP-ribose pyrophosphatase, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801350 name: ADP-ribosylation factor 6 measurement def: "Quantification of ADP-ribosylation factor 6 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801351 name: ADP-ribosylation factor GTPase-activating protein 2 measurement def: "Quantification of ADP-ribosylation factor GTPase-activating protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801352 name: ADP-ribosylation factor-binding protein GGA1 measurement def: "Quantification of ADP-ribosylation factor-binding protein GGA1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801353 name: ADP-ribosylation factor-binding protein GGA3 measurement def: "Quantification of ADP-ribosylation factor-binding protein GGA3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801354 name: ADP-ribosylation factor-like protein 1 measurement def: "Quantification of ADP-ribosylation factor-like protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801355 name: ADP-ribosylation factor-like protein 11 measurement def: "Quantification of ADP-ribosylation factor-like protein 11 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801356 name: ADP-ribosylation factor-like protein 3 measurement def: "Quantification of ADP-ribosylation factor-like protein 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801357 name: Agouti-signaling protein measurement def: "Quantification of agouti-signaling protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801358 name: adseverin measurement def: "Quantification of adseverin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801359 name: alanine--tRNA ligase, cytoplasmic measurement def: "Quantification of alanine--tRNA ligase, cytoplasmic in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801360 name: alcohol dehydrogenase 1B measurement def: "Quantification of alcohol dehydrogenase 1B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801361 name: aldehyde dehydrogenase family 3 member B1 measurement def: "Quantification of aldehyde dehydrogenase family 3 member B1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801362 name: aldehyde dehydrogenase, dimeric NADP-preferring measurement def: "Quantification of aldehyde dehydrogenase, dimeric NADP-preferring in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801363 name: aldo-keto reductase family 1 member C1 measurement def: "Quantification of aldo-keto reductase family 1 member C1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801364 name: aldose reductase measurement def: "Quantification of aldose reductase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801365 name: allergin-1 measurement def: "Quantification of allergin-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801366 name: alpha-(1,3)-fucosyltransferase 10 measurement def: "Quantification of alpha-(1,3)-fucosyltransferase 10 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801367 name: alpha-(1,3)-fucosyltransferase 9 measurement def: "Quantification of alpha-(1,3)-fucosyltransferase 9 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801368 name: alpha-(1,6)-fucosyltransferase measurement def: "Quantification of alpha-(1,6)-fucosyltransferase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801369 name: alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B measurement def: "Quantification of alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801370 name: alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase measurement def: "Quantification of alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801371 name: alpha-amylase 1 measurement def: "Quantification of alpha-amylase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801372 name: alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 measurement def: "Quantification of alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801373 name: alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 measurement def: "Quantification of alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801374 name: alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 measurement def: "Quantification of alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801375 name: alpha-taxilin measurement def: "Quantification of alpha-taxilin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801376 name: alpha/beta hydrolase domain-containing protein 14A measurement def: "Quantification of alpha/beta hydrolase domain-containing protein 14A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801377 name: ameloblastin measurement def: "Quantification of ameloblastin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801378 name: amelogenin, X isoform measurement def: "Quantification of amelogenin, X isoform in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801379 name: amyloid beta A4 precursor protein-binding family B member 2 measurement def: "Quantification of amyloid beta A4 precursor protein-binding family B member 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801380 name: amyloid-like protein 2 measurement def: "Quantification of amyloid-like protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801381 name: anaphase-promoting complex subunit 7 measurement def: "Quantification of anaphase-promoting complex subunit 7 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801382 name: angiopoietin-related protein 1 measurement def: "Quantification of angiopoietin-related protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801383 name: annexin A10 measurement def: "Quantification of annexin A10 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801384 name: AP-4 complex accessory subunit tepsin measurement def: "Quantification of AP-4 complex accessory subunit tepsin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801385 name: AP-4 complex subunit mu-1 measurement def: "Quantification of AP-4 complex subunit mu-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801386 name: APOBEC1 complementation factor measurement def: "Quantification of APOBEC1 complementation factor in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801387 name: apolipoprotein A-V measurement def: "Quantification of apolipoprotein A-V in a sample." [] xref: PMID:29875488 is_a: EFO:0004732 ! lipoprotein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801388 name: apolipoprotein F measurement def: "Quantification of apolipoprotein F in a sample." [] xref: PMID:29875488 is_a: EFO:0004732 ! lipoprotein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801389 name: apoptosis-inducing factor 1, mitochondrial measurement def: "Quantification of apoptosis-inducing factor 1, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801390 name: apoptotic protease-activating factor 1 measurement def: "Quantification of apoptotic protease-activating factor 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801391 name: arachidonate 15-lipoxygenase B measurement def: "Quantification of arachidonate 15-lipoxygenase B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801392 name: arfaptin-1 measurement def: "Quantification of arfaptin-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801393 name: arfaptin-2 measurement def: "Quantification of arfaptin-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801394 name: arylamine N-acetyltransferase 1 measurement def: "Quantification of arylamine N-acetyltransferase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801395 name: arylsulfatase K measurement def: "Quantification of arylsulfatase K in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801396 name: aspartyl/asparaginyl beta-hydroxylase measurement def: "Quantification of aspartyl/asparaginyl beta-hydroxylase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801397 name: asporin measurement def: "Quantification of asporin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801398 name: ATP-dependent RNA helicase DHX8 measurement def: "Quantification of ATP-dependent RNA helicase DHX8 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801399 name: augurin measurement def: "Quantification of augurin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801400 name: axin-2 measurement def: "Quantification of axin-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801401 name: B melanoma antigen 2 measurement def: "Quantification of b melanoma antigen 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801402 name: B-cell antigen receptor complex-associated protein alpha chain measurement def: "Quantification of B-cell antigen receptor complex-associated protein alpha chain in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801403 name: B-cell lymphoma/leukemia 10 measurement def: "Quantification of B-cell lymphoma/leukemia 10 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801404 name: basic leucine zipper transcriptional factor ATF-like 3 measurement def: "Quantification of basic leucine zipper transcriptional factor ATF-like 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801405 name: basic salivary proline-rich protein 4 measurement def: "Quantification of basic salivary proline-rich protein 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801406 name: bcl10-interacting CARD protein measurement def: "Quantification of bcl10-interacting CARD protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801407 name: beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 measurement def: "Quantification of beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801408 name: beta-1,3-N-acetylglucosaminyltransferase radical fringe measurement def: "Quantification of beta-1,3-N-acetylglucosaminyltransferase radical fringe in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801409 name: beta-1,4-galactosyltransferase 1 measurement def: "Quantification of beta-1,4-galactosyltransferase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801410 name: beta-1,4-galactosyltransferase 2 measurement def: "Quantification of beta-1,4-galactosyltransferase 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801411 name: beta-1,4-galactosyltransferase 6 measurement def: "Quantification of beta-1,4-galactosyltransferase 6 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801412 name: beta-1,4-glucuronyltransferase 1 measurement def: "Quantification of beta-1,4-glucuronyltransferase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801413 name: beta-arrestin-1 measurement def: "Quantification of beta-arrestin-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801414 name: beta-crystallin B2 measurement def: "Quantification of beta-crystallin B2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801415 name: beta-defensin 1 measurement def: "Quantification of beta-defensin 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801416 name: beta-defensin 104 measurement def: "Quantification of beta-defensin 104 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801417 name: beta-defensin 105 measurement def: "Quantification of beta-defensin 105 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801418 name: beta-defensin 112 measurement def: "Quantification of beta-defensin 112 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801419 name: beta-defensin 119 measurement def: "Quantification of beta-defensin 119 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801420 name: beta-defensin 128 measurement def: "Quantification of beta-defensin 128 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801421 name: beta-mannosidase measurement def: "Quantification of beta-mannosidase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801422 name: beta-sarcoglycan measurement def: "Quantification of beta-sarcoglycan in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801423 name: beta-soluble NSF attachment protein measurement def: "Quantification of beta-soluble NSF attachment protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801424 name: bifunctional polynucleotide phosphatase/kinase measurement def: "Quantification of bifunctional polynucleotide phosphatase/kinase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801425 name: bile salt-activated lipase measurement def: "Quantification of bile salt-activated lipase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801426 name: biliverdin reductase A measurement def: "Quantification of biliverdin reductase A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801427 name: bis(5'-adenosyl)-triphosphatase measurement def: "Quantification of bis(5'-adenosyl)-triphosphatase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801428 name: bombesin receptor-activated protein C6orf89 measurement def: "Quantification of bombesin receptor-activated protein C6orf89 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801429 name: BPI fold-containing family B member 1 measurement def: "Quantification of BPI fold-containing family B member 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801430 name: BRICHOS domain-containing protein 5 measurement def: "Quantification of BRICHOS domain-containing protein 5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801431 name: bromodomain-containing protein 1 measurement def: "Quantification of bromodomain-containing protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801432 name: brorin measurement def: "Quantification of brorin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801433 name: C-type lectin domain family 12 member A measurement def: "Quantification of C-type lectin domain family 12 member A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801434 name: C-type lectin domain family 2 member D measurement def: "Quantification of C-type lectin domain family 2 member D in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801435 name: C-type lectin domain family 4 member E measurement def: "Quantification of C-type lectin domain family 4 member E in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801436 name: C-type lectin domain family 5 member A measurement def: "Quantification of C-type lectin domain family 5 member A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801437 name: C1GALT1-specific chaperone 1 measurement def: "Quantification of C1GALT1-specific chaperone 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801438 name: cadherin-7 measurement def: "Quantification of cadherin-7 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801439 name: cadherin-related family member 1 measurement def: "Quantification of cadherin-related family member 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801440 name: cadherin-related family member 5 measurement def: "Quantification of cadherin-related family member 5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801441 name: calbindin measurement def: "Quantification of calbindin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801442 name: calcipressin-1 measurement def: "Quantification of calcipressin-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801443 name: calcyclin-binding protein measurement def: "Quantification of calcyclin-binding protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801444 name: calnexin measurement def: "Quantification of calnexin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801445 name: calpain-2 catalytic subunit measurement def: "Quantification of calpain-2 catalytic subunit in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801446 name: cAMP-dependent protein kinase type I-beta regulatory subunit measurement def: "Quantification of cAMP-dependent protein kinase type I-beta regulatory subunit in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801447 name: carbohydrate sulfotransferase 1 measurement def: "Quantification of carbohydrate sulfotransferase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801448 name: carbohydrate sulfotransferase 11 measurement def: "Quantification of carbohydrate sulfotransferase 11 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801449 name: carbohydrate sulfotransferase 9 measurement def: "Quantification of carbohydrate sulfotransferase 9 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801450 name: carbonic anhydrase 5A, mitochondrial measurement def: "Quantification of carbonic anhydrase 5A, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801451 name: carboxypeptidase A2 measurement def: "Quantification of carboxypeptidase A2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801452 name: carboxypeptidase A4 measurement def: "Quantification of carboxypeptidase A4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801453 name: carboxypeptidase B measurement def: "Quantification of carboxypeptidase B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801454 name: carboxypeptidase M measurement def: "Quantification of carboxypeptidase M in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801455 name: carboxypeptidase Z measurement def: "Quantification of carboxypeptidase Z in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801456 name: carcinoembryonic antigen-related cell adhesion molecule 1 measurement def: "Quantification of carcinoembryonic antigen-related cell adhesion molecule 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801457 name: cartilage intermediate layer protein 1 measurement def: "Quantification of cartilage intermediate layer protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801458 name: casein kinase I isoform gamma-2 measurement def: "Quantification of casein kinase I isoform gamma-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801459 name: cation-dependent mannose-6-phosphate receptor measurement def: "Quantification of cation-dependent mannose-6-phosphate receptor in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801460 name: CDGSH iron-sulfur domain-containing protein 1 measurement def: "Quantification of CDGSH iron-sulfur domain-containing protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801461 name: cell growth regulator with EF hand domain protein 1 measurement def: "Quantification of cell growth regulator with EF hand domain protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801462 name: cell surface glycoprotein CD200 receptor 2 measurement def: "Quantification of cell surface glycoprotein CD200 receptor 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801463 name: cellular retinoic acid-binding protein 1 measurement def: "Quantification of cellular retinoic acid-binding protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801464 name: centrin-2 measurement def: "Quantification of centrin-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801465 name: centrosomal protein of 57 kDa measurement def: "Quantification of centrosomal protein of 57 kDa in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801466 name: cerebellin-1 measurement def: "Quantification of cerebellin-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801467 name: cerebellin-4 measurement def: "Quantification of cerebellin-4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801468 name: cGMP-dependent protein kinase 1, beta isozyme measurement def: "Quantification of cGMP-dependent protein kinase 1, beta isozyme in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801469 name: charged multivesicular body protein 3 measurement def: "Quantification of charged multivesicular body protein 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801470 name: chitinase-3-like protein 1 measurement def: "Quantification of chitinase-3-like protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801471 name: chitinase-3-like protein 2 measurement def: "Quantification of chitinase-3-like protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801472 name: chloride intracellular channel protein 5 measurement def: "Quantification of chloride intracellular channel protein 5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801473 name: chondroitin sulfate N-acetylgalactosaminyltransferase 2 measurement def: "Quantification of chondroitin sulfate N-acetylgalactosaminyltransferase 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801474 name: chordin-like protein 2 measurement def: "Quantification of chordin-like protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801475 name: chromobox protein homolog 7 measurement def: "Quantification of chromobox protein homolog 7 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801476 name: chymotrypsin-like protease CTRL-1 measurement def: "Quantification of chymotrypsin-like protease CTRL-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801477 name: chymotrypsinogen B measurement def: "Quantification of chymotrypsinogen B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801478 name: clathrin interactor 1 measurement def: "Quantification of clathrin interactor 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801479 name: CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1 measurement def: "Quantification of CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801480 name: CMRF35-like molecule 8 measurement def: "Quantification of CMRF35-like molecule 8 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801481 name: cochlin measurement def: "Quantification of cochlin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801482 name: coiled-coil domain-containing protein 126 measurement def: "Quantification of coiled-coil domain-containing protein 126 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801483 name: coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial measurement def: "Quantification of coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801484 name: cold-inducible RNA-binding protein measurement def: "Quantification of cold-inducible RNA-binding protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801485 name: colipase measurement def: "Quantification of colipase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801486 name: collagen alpha-1(I) chain measurement def: "Quantification of collagen alpha-1(I) chain in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801487 name: collagen alpha-1(VI) chain measurement def: "Quantification of collagen alpha-1(VI) chain in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801488 name: collagen alpha-1(XV) chain measurement def: "Quantification of collagen alpha-1(XV) chain in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801489 name: collagen alpha-2(IX) chain measurement def: "Quantification of collagen alpha-2(IX) chain in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801490 name: collagen alpha-2(XI) chain measurement def: "Quantification of collagen alpha-2(XI) chain in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801491 name: collectin-10 measurement def: "Quantification of collectin-10 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801492 name: complement C1q subcomponent subunit C measurement def: "Quantification of complement C1q subcomponent subunit C in a sample." [] xref: PMID:29875488 is_a: EFO:0008089 ! complement C1q subcomponent measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801493 name: complement C1q tumor necrosis factor-related protein 1 measurement def: "Quantification of complement C1q tumor necrosis factor-related protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801494 name: complement C1q tumor necrosis factor-related protein 5 measurement def: "Quantification of complement C1q tumor necrosis factor-related protein 5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801495 name: complement C1r subcomponent-like protein measurement def: "Quantification of complement C1r subcomponent-like protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801496 name: contactin-associated protein-like 2 measurement def: "Quantification of contactin-associated protein-like 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801497 name: COP9 signalosome complex subunit 2 measurement def: "Quantification of COP9 signalosome complex subunit 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801498 name: core-binding factor subunit beta measurement def: "Quantification of core-binding factor subunit beta in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801499 name: corneodesmosin measurement def: "Quantification of corneodesmosin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801500 name: cortexin-3 measurement def: "Quantification of cortexin-3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801501 name: corticotropin-releasing factor-binding protein measurement def: "Quantification of corticotropin-releasing factor-binding protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801502 name: CREB-binding protein measurement def: "Quantification of CREB-binding protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801503 name: CRK-like protein measurement def: "Quantification of CRK-like protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801504 name: CXADR-like membrane protein measurement def: "Quantification of CXADR-like membrane protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801505 name: cyclic AMP-dependent transcription factor ATF-6 alpha measurement def: "Quantification of cyclic AMP-dependent transcription factor ATF-6 alpha in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801506 name: cyclic AMP-responsive element-binding protein 3-like protein 4 measurement def: "Quantification of cyclic AMP-responsive element-binding protein 3-like protein 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801507 name: cyclin-C measurement def: "Quantification of cyclin-C in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801508 name: cyclin-H measurement def: "Quantification of cyclin-H in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801509 name: cystatin-8 measurement def: "Quantification of cystatin-8 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801510 name: cysteine-rich hydrophobic domain-containing protein 2 measurement def: "Quantification of cysteine-rich hydrophobic domain-containing protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801511 name: cysteine-rich secretory protein 2 measurement def: "Quantification of cysteine-rich secretory protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801512 name: cysteine-rich secretory protein LCCL domain-containing 2 measurement def: "Quantification of cysteine-rich secretory protein LCCL domain-containing 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801513 name: cytochrome c oxidase assembly factor 3 homolog, mitochondrial measurement def: "Quantification of cytochrome c oxidase assembly factor 3 homolog, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801514 name: cytochrome c oxidase subunit 4 isoform 2, mitochondrial measurement def: "Quantification of cytochrome c oxidase subunit 4 isoform 2, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801515 name: cytochrome c oxidase subunit 6C measurement def: "Quantification of cytochrome c oxidase subunit 6C in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801516 name: cytochrome c oxidase subunit 8A, mitochondrial measurement def: "Quantification of cytochrome c oxidase subunit 8A, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801517 name: cytohesin-2 measurement def: "Quantification of cytohesin-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801518 name: cytokine receptor common subunit beta measurement def: "Quantification of cytokine receptor common subunit beta in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801519 name: D-glucuronyl C5-epimerase measurement def: "Quantification of D-glucuronyl C5-epimerase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801520 name: DCN1-like protein 5 measurement def: "Quantification of DCN1-like protein 5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801521 name: dedicator of cytokinesis protein 9 measurement def: "Quantification of dedicator of cytokinesis protein 9 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801522 name: deformed epidermal autoregulatory factor 1 homolog measurement def: "Quantification of deformed epidermal autoregulatory factor 1 homolog in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801523 name: deoxycytidine kinase measurement def: "Quantification of deoxycytidine kinase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801524 name: di-N-acetylchitobiase measurement def: "Quantification of di-N-acetylchitobiase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801525 name: diacylglycerol kinase beta measurement def: "Quantification of diacylglycerol kinase beta in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801526 name: dihydrofolate reductase measurement def: "Quantification of dihydrofolate reductase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801527 name: dihydropteridine reductase measurement def: "Quantification of dihydropteridine reductase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801528 name: dipeptidase 2 measurement def: "Quantification of dipeptidase 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801529 name: disintegrin and metalloproteinase domain-containing protein 11 measurement def: "Quantification of disintegrin and metalloproteinase domain-containing protein 11 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801530 name: disintegrin and metalloproteinase domain-containing protein 23 measurement def: "Quantification of disintegrin and metalloproteinase domain-containing protein 23 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801531 name: DNA repair protein RAD51 homolog 4 measurement def: "Quantification of DNA repair protein RAD51 homolog 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801532 name: DNA repair protein XRCC4 measurement def: "Quantification of DNA repair protein XRCC4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801533 name: DNA-(apurinic or apyrimidinic site) lyase measurement def: "Quantification of DNA-(apurinic or apyrimidinic site) lyase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801534 name: DNA-3-methyladenine glycosylase measurement def: "Quantification of DNA-3-methyladenine glycosylase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801535 name: DNA-directed RNA polymerases I and III subunit RPAC1 measurement def: "Quantification of DNA-directed RNA polymerases I and III subunit RPAC1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801536 name: DNA/RNA-binding protein KIN17 measurement def: "Quantification of DNA/RNA-binding protein KIN17 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801537 name: DnaJ homolog subfamily B member 11 measurement def: "Quantification of DnaJ homolog subfamily B member 11 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801538 name: DnaJ homolog subfamily B member 14 measurement def: "Quantification of DnaJ homolog subfamily B member 14 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801539 name: DnaJ homolog subfamily B member 2 measurement def: "Quantification of DnaJ homolog subfamily B member 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801540 name: DnaJ homolog subfamily B member 9 measurement def: "Quantification of DnaJ homolog subfamily B member 9 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801541 name: DnaJ homolog subfamily C member 17 measurement def: "Quantification of DnaJ homolog subfamily C member 17 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801542 name: DnaJ homolog subfamily C member 30 measurement def: "Quantification of DnaJ homolog subfamily C member 30 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801543 name: docking protein 2 measurement def: "Quantification of docking protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801544 name: dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 measurement def: "Quantification of dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801545 name: dorsal root ganglia homeobox protein measurement def: "Quantification of dorsal root ganglia homeobox protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801546 name: double-stranded RNA-binding protein Staufen homolog 1 measurement def: "Quantification of double-stranded RNA-binding protein Staufen homolog 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801547 name: double-stranded RNA-binding protein Staufen homolog 2 measurement def: "Quantification of double-stranded RNA-binding protein Staufen homolog 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801548 name: dual specificity protein kinase CLK2 measurement def: "Quantification of dual specificity protein kinase CLK2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801549 name: dual specificity protein phosphatase 13 isoform A measurement def: "Quantification of dual specificity protein phosphatase 13 isoform A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801550 name: dual specificity protein phosphatase 4 measurement def: "Quantification of dual specificity protein phosphatase 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801551 name: dynactin-associated protein measurement def: "Quantification of dynactin-associated protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801552 name: E3 ubiquitin-protein ligase CBL measurement def: "Quantification of E3 ubiquitin-protein ligase CBL in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801553 name: E3 ubiquitin-protein ligase DTX3L measurement def: "Quantification of E3 ubiquitin-protein ligase DTX3L in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801554 name: E3 ubiquitin-protein ligase NEURL1 measurement def: "Quantification of E3 ubiquitin-protein ligase NEURL1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801555 name: E3 ubiquitin-protein ligase RNF128 measurement def: "Quantification of E3 ubiquitin-protein ligase RNF128 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801556 name: E3 ubiquitin-protein ligase RNF13 measurement def: "Quantification of E3 ubiquitin-protein ligase RNF13 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801557 name: E3 ubiquitin-protein ligase RNF8 measurement def: "Quantification of E3 ubiquitin-protein ligase RNF8 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801558 name: ecto-ADP-ribosyltransferase 3 measurement def: "Quantification of ecto-ADP-ribosyltransferase 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801559 name: ecto-ADP-ribosyltransferase 4 measurement def: "Quantification of ecto-ADP-ribosyltransferase 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801560 name: ectonucleotide pyrophosphatase/phosphodiesterase family member 5 measurement def: "Quantification of ectonucleotide pyrophosphatase/phosphodiesterase family member 5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801561 name: EH domain-binding protein 1 measurement def: "Quantification of EH domain-binding protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801562 name: ELAV-like protein 1 measurement def: "Quantification of ELAV-like protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801563 name: EMILIN-3 measurement def: "Quantification of EMILIN-3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801564 name: Ena/VASP-like protein measurement def: "Quantification of Ena/VASP-like protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801565 name: endogenous retrovirus group V member 1 Env polyprotein measurement def: "Quantification of endogenous retrovirus group V member 1 Env polyprotein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801566 name: endoplasmic reticulum aminopeptidase 2 measurement def: "Quantification of endoplasmic reticulum aminopeptidase 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801567 name: endoplasmic reticulum lectin 1 measurement def: "Quantification of endoplasmic reticulum lectin 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801568 name: endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase measurement def: "Quantification of endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801569 name: endoplasmic reticulum resident protein 44 measurement def: "Quantification of endoplasmic reticulum resident protein 44 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801570 name: endoplasmin measurement def: "Quantification of endoplasmin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801571 name: endothelial differentiation-related factor 1 measurement def: "Quantification of endothelial differentiation-related factor 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801572 name: endothelin-2 measurement def: "Quantification of endothelin-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801573 name: enhancer of rudimentary homolog measurement def: "Quantification of enhancer of rudimentary homolog in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801574 name: ephrin type-B receptor 3 measurement def: "Quantification of ephrin type-B receptor 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801575 name: epididymal secretory protein E1 measurement def: "Quantification of epididymal secretory protein E1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801576 name: epididymal-specific lipocalin-10 measurement def: "Quantification of epididymal-specific lipocalin-10 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801577 name: epididymis-specific alpha-mannosidase measurement def: "Quantification of epididymis-specific alpha-mannosidase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801578 name: epiphycan measurement def: "Quantification of epiphycan in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801579 name: ER membrane protein complex subunit 1 measurement def: "Quantification of ER membrane protein complex subunit 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801580 name: ER membrane protein complex subunit 4 measurement def: "Quantification of ER membrane protein complex subunit 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801581 name: erlin-1 measurement def: "Quantification of erlin-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801582 name: ERO1-like protein alpha measurement def: "Quantification of ERO1-like protein alpha in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801583 name: ERO1-like protein beta measurement def: "Quantification of ERO1-like protein beta in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801584 name: erythrocyte band 7 integral membrane protein measurement def: "Quantification of erythrocyte band 7 integral membrane protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801585 name: erythroid membrane-associated protein measurement def: "Quantification of erythroid membrane-associated protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801586 name: estrogen sulfotransferase measurement def: "Quantification of estrogen sulfotransferase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801587 name: ETS domain-containing protein Elk-1 measurement def: "Quantification of ETS domain-containing protein Elk-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801588 name: ETS domain-containing protein Elk-3 measurement def: "Quantification of ETS domain-containing protein Elk-3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801589 name: eukaryotic translation initiation factor 1A, X-chromosomal measurement def: "Quantification of eukaryotic translation initiation factor 1A, X-chromosomal in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801590 name: eukaryotic translation initiation factor 3 subunit G measurement def: "Quantification of eukaryotic translation initiation factor 3 subunit G in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801591 name: eukaryotic translation initiation factor 3 subunit J measurement def: "Quantification of eukaryotic translation initiation factor 3 subunit J in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801592 name: eukaryotic translation initiation factor 4B measurement def: "Quantification of eukaryotic translation initiation factor 4B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801593 name: eukaryotic translation initiation factor 4E type 2 measurement def: "Quantification of eukaryotic translation initiation factor 4E type 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801594 name: exosome complex component RRP40 measurement def: "Quantification of exosome complex component RRP40 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801595 name: exostosin-like 2 measurement def: "Quantification of exostosin-like 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801596 name: extracellular sulfatase Sulf-2 measurement def: "Quantification of extracellular sulfatase Sulf-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801597 name: ezrin measurement def: "Quantification of ezrin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801598 name: Fc receptor-like protein 1 measurement def: "Quantification of Fc receptor-like protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801599 name: Fc receptor-like protein 4 measurement def: "Quantification of Fc receptor-like protein 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801600 name: Fc receptor-like protein 6 measurement def: "Quantification of Fc receptor-like protein 6 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801601 name: fibronectin type III domain-containing protein 5 measurement def: "Quantification of fibronectin type III domain-containing protein 5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801602 name: filamin-A measurement def: "Quantification of filamin-A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801603 name: follistatin-related protein 4 measurement def: "Quantification of follistatin-related protein 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801604 name: forkhead box protein J2 measurement def: "Quantification of forkhead box protein J2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801605 name: four-jointed box protein 1 measurement def: "Quantification of four-jointed box protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801606 name: fructose-1,6-bisphosphatase 1 measurement def: "Quantification of fructose-1,6-bisphosphatase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801607 name: fructose-2,6-bisphosphatase TIGAR measurement def: "Quantification of fructose-2,6-bisphosphatase TIGAR in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801608 name: fructose-bisphosphate aldolase A measurement def: "Quantification of fructose-bisphosphate aldolase A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801609 name: fumarylacetoacetase measurement def: "Quantification of fumarylacetoacetase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801610 name: furin measurement def: "Quantification of furin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801611 name: galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 measurement def: "Quantification of galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801612 name: galanin-like peptide measurement def: "Quantification of galanin-like peptide in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801613 name: gamma-aminobutyric acid receptor-associated protein-like 1 measurement def: "Quantification of gamma-aminobutyric acid receptor-associated protein-like 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801614 name: gamma-aminobutyric acid receptor-associated protein-like 2 measurement def: "Quantification of gamma-aminobutyric acid receptor-associated protein-like 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801615 name: gamma-aminobutyric acid type B receptor subunit 2 measurement def: "Quantification of gamma-aminobutyric acid type B receptor subunit 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801616 name: gamma-glutamyl hydrolase measurement def: "Quantification of gamma-glutamyl hydrolase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801617 name: gamma-interferon-inducible protein 16 measurement def: "Quantification of gamma-interferon-inducible protein 16 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801618 name: gap junction alpha-1 protein measurement def: "Quantification of gap junction alpha-1 protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801619 name: GDH/6PGL endoplasmic bifunctional protein measurement def: "Quantification of GDH/6PGL endoplasmic bifunctional protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801620 name: GDNF family receptor alpha-like measurement def: "Quantification of GDNF family receptor alpha-like in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801621 name: GDP-fucose protein O-fucosyltransferase 1 measurement def: "Quantification of GDP-fucose protein O-fucosyltransferase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801622 name: GDP-fucose protein O-fucosyltransferase 2 measurement def: "Quantification of GDP-fucose protein O-fucosyltransferase 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801623 name: general transcription factor II-I measurement def: "Quantification of general transcription factor II-I in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801624 name: glia maturation factor gamma measurement def: "Quantification of glia maturation factor gamma in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801625 name: glucokinase measurement def: "Quantification of glucokinase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801626 name: glucosamine 6-phosphate N-acetyltransferase measurement def: "Quantification of glucosamine 6-phosphate N-acetyltransferase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801627 name: glucosamine-6-phosphate isomerase 1 measurement def: "Quantification of glucosamine-6-phosphate isomerase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801628 name: glucosidase 2 subunit beta measurement def: "Quantification of glucosidase 2 subunit beta in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801629 name: glucoside xylosyltransferase 1 measurement def: "Quantification of glucoside xylosyltransferase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801630 name: glutamate receptor 4 measurement def: "Quantification of glutamate receptor 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801631 name: glutamate receptor ionotropic, delta-2 measurement def: "Quantification of glutamate receptor ionotropic, delta-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801632 name: glutaminyl-peptide cyclotransferase-like protein measurement def: "Quantification of glutaminyl-peptide cyclotransferase-like protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801633 name: glutaredoxin-2, mitochondrial measurement def: "Quantification of glutaredoxin-2, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801634 name: glutaredoxin-like protein C5orf63 measurement def: "Quantification of glutaredoxin-like protein C5orf63 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801635 name: glutathione peroxidase 7 measurement def: "Quantification of glutathione peroxidase 7 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801636 name: glutathione S-transferase A1 measurement def: "Quantification of glutathione S-transferase A1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801637 name: glutathione S-transferase A4 measurement def: "Quantification of glutathione S-transferase A4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801638 name: glutathione S-transferase Mu 1 measurement def: "Quantification of glutathione S-transferase Mu 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801639 name: glutathione S-transferase omega-1 measurement def: "Quantification of glutathione S-transferase omega-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801640 name: glycerol-3-phosphate dehydrogenase 1-like protein measurement def: "Quantification of glycerol-3-phosphate dehydrogenase 1-like protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801641 name: glycine N-methyltransferase measurement def: "Quantification of glycine N-methyltransferase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801642 name: glycogen phosphorylase, liver form measurement def: "Quantification of glycogen phosphorylase, liver form in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801643 name: glycolipid transfer protein domain-containing protein 2 measurement def: "Quantification of glycolipid transfer protein domain-containing protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801644 name: glycoprotein endo-alpha-1,2-mannosidase measurement def: "Quantification of glycoprotein endo-alpha-1,2-mannosidase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801645 name: glycoprotein hormone alpha-2 measurement def: "Quantification of glycoprotein hormone alpha-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801646 name: glycoprotein Xg measurement def: "Quantification of glycoprotein Xg in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801647 name: glycosaminoglycan xylosylkinase measurement def: "Quantification of glycosaminoglycan xylosylkinase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801648 name: glycosyltransferase 8 domain-containing protein 1 measurement def: "Quantification of glycosyltransferase 8 domain-containing protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801649 name: glypican-1 measurement def: "Quantification of glypican-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801650 name: Golgi membrane protein 1 measurement def: "Quantification of Golgi membrane protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801651 name: Golgi SNAP receptor complex member 1 measurement def: "Quantification of Golgi SNAP receptor complex member 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801652 name: GRAM domain-containing protein 1C measurement def: "Quantification of GRAM domain-containing protein 1C in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801653 name: grancalcin measurement def: "Quantification of grancalcin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801654 name: granzyme K measurement def: "Quantification of granzyme K in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801655 name: granzyme M measurement def: "Quantification of granzyme M in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801656 name: gremlin-2 measurement def: "Quantification of gremlin-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801657 name: group XIIB secretory phospholipase A2-like protein measurement def: "Quantification of group XIIB secretory phospholipase A2-like protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801658 name: growth factor receptor-bound protein 14 measurement def: "Quantification of growth factor receptor-bound protein 14 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801659 name: growth factor receptor-bound protein 7 measurement def: "Quantification of growth factor receptor-bound protein 7 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801660 name: GTP-binding protein GEM measurement def: "Quantification of GTP-binding protein GEM in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801661 name: guanine nucleotide-binding protein G(k) subunit alpha measurement def: "Quantification of guanine nucleotide-binding protein G(k) subunit alpha in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801662 name: guanylate-binding protein 6 measurement def: "Quantification of guanylate-binding protein 6 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801663 name: guanylyl cyclase-activating protein 1 measurement def: "Quantification of guanylyl cyclase-activating protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801664 name: haloacid dehalogenase-like hydrolase domain-containing protein 2 measurement def: "Quantification of haloacid dehalogenase-like hydrolase domain-containing protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801665 name: heat shock 70 kDa protein 1-like measurement def: "Quantification of heat shock 70 kDa protein 1-like in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801666 name: heat shock 70 kDa protein 6 measurement def: "Quantification of heat shock 70 kDa protein 6 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801667 name: hematopoietic progenitor cell antigen CD34 measurement def: "Quantification of hematopoietic progenitor cell antigen CD34 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801668 name: hematopoietic prostaglandin D synthase measurement def: "Quantification of hematopoietic prostaglandin D synthase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801669 name: hemoglobin subunit theta-1 measurement def: "Quantification of hemoglobin subunit theta-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801670 name: hemoglobin subunit zeta measurement def: "Quantification of hemoglobin subunit zeta in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801671 name: heparan sulfate glucosamine 3-O-sulfotransferase 3A1 measurement def: "Quantification of heparan sulfate glucosamine 3-O-sulfotransferase 3A1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801672 name: hepatocyte nuclear factor 4-alpha measurement def: "Quantification of hepatocyte nuclear factor 4-alpha in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801673 name: heterogeneous nuclear ribonucleoprotein D-like measurement def: "Quantification of heterogeneous nuclear ribonucleoprotein D-like in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801674 name: heterogeneous nuclear ribonucleoprotein M measurement def: "Quantification of heterogeneous nuclear ribonucleoprotein M in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801675 name: heterogeneous nuclear ribonucleoproteins C1/C2 measurement def: "Quantification of heterogeneous nuclear ribonucleoproteins C1/C2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801676 name: high mobility group protein B2 measurement def: "Quantification of high mobility group protein B2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801677 name: high mobility group protein B3 measurement def: "Quantification of high mobility group protein B3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801678 name: histatin-1 measurement def: "Quantification of histatin-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801679 name: histo-blood group ABO system transferase measurement def: "Quantification of histo-blood group ABO system transferase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801680 name: histone deacetylase complex subunit SAP18 measurement def: "Quantification of histone deacetylase complex subunit SAP18 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801681 name: histone H1x measurement def: "Quantification of histone H1x in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801682 name: histone-lysine N-methyltransferase 2C measurement def: "Quantification of histone-lysine N-methyltransferase 2C in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801683 name: histone-lysine N-methyltransferase 2D measurement def: "Quantification of histone-lysine N-methyltransferase 2D in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801684 name: HLA class II histocompatibility antigen, DM alpha chain measurement def: "Quantification of HLA class II histocompatibility antigen, DM alpha chain in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801685 name: HLA class II histocompatibility antigen, DP beta 1 chain measurement def: "Quantification of HLA class II histocompatibility antigen, DP beta 1 chain in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801686 name: HLA class II histocompatibility antigen, DQ alpha 2 chain measurement def: "Quantification of HLA class II histocompatibility antigen, DQ alpha 2 chain in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801687 name: IGF-like family receptor 1 measurement def: "Quantification of IGF-like family receptor 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801688 name: immunoglobulin lambda-like polypeptide 1 measurement def: "Quantification of immunoglobulin lambda-like polypeptide 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801689 name: immunoglobulin superfamily DCC subclass member 3 measurement def: "Quantification of immunoglobulin superfamily DCC subclass member 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801690 name: immunoglobulin superfamily DCC subclass member 4 measurement def: "Quantification of immunoglobulin superfamily DCC subclass member 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801691 name: immunoglobulin-binding protein 1 measurement def: "Quantification of immunoglobulin-binding protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801692 name: inactive gamma-glutamyltranspeptidase 2 measurement def: "Quantification of inactive gamma-glutamyltranspeptidase 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801693 name: inactive pancreatic lipase-related protein 1 measurement def: "Quantification of inactive pancreatic lipase-related protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801694 name: inactive peptidyl-prolyl cis-trans isomerase FKBP6 measurement def: "Quantification of inactive peptidyl-prolyl cis-trans isomerase FKBP6 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801695 name: indoleamine 2,3-dioxygenase 1 measurement def: "Quantification of indoleamine 2,3-dioxygenase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801696 name: inhibin beta C chain measurement def: "Quantification of inhibin beta C chain in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801697 name: inositol 1,4,5-trisphosphate receptor-interacting protein-like 1 measurement def: "Quantification of inositol 1,4,5-trisphosphate receptor-interacting protein-like 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801698 name: inositol monophosphatase 3 measurement def: "Quantification of inositol monophosphatase 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801699 name: inositol polyphosphate 5-phosphatase OCRL-1 measurement def: "Quantification of inositol polyphosphate 5-phosphatase OCRL-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801700 name: insulin growth factor-like family member 3 measurement def: "Quantification of insulin growth factor-like family member 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801701 name: insulin growth factor-like family member 4 measurement def: "Quantification of insulin growth factor-like family member 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801702 name: insulin-like growth factor I measurement def: "Quantification of insulin-like growth factor I in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801703 name: insulin-like growth factor-binding protein 3 measurement def: "Quantification of insulin-like growth factor-binding protein 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801704 name: integral membrane protein 2A measurement def: "Quantification of integral membrane protein 2A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801705 name: inter-alpha-trypsin inhibitor heavy chain H1 measurement def: "Quantification of inter-alpha-trypsin inhibitor heavy chain H1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801706 name: inter-alpha-trypsin inhibitor heavy chain H5 measurement def: "Quantification of inter-alpha-trypsin inhibitor heavy chain H5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801707 name: intercellular adhesion molecule 1 measurement def: "Quantification of intercellular adhesion molecule 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801708 name: intercellular adhesion molecule 4 measurement def: "Quantification of intercellular adhesion molecule 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801709 name: interferon regulatory factor 2 measurement def: "Quantification of interferon regulatory factor 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801710 name: interferon-induced protein with tetratricopeptide repeats 3 measurement def: "Quantification of interferon-induced protein with tetratricopeptide repeats 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801711 name: interleukin-1 receptor accessory protein measurement def: "Quantification of interleukin-1 receptor accessory protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801712 name: interleukin-1 receptor antagonist protein measurement def: "Quantification of interleukin-1 receptor antagonist protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801713 name: interleukin-1 receptor-like 1 measurement def: "Quantification of interleukin-1 receptor-like 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801714 name: interleukin-1 receptor-like 2 measurement def: "Quantification of interleukin-1 receptor-like 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801715 name: interleukin-12 receptor subunit beta-1 measurement def: "Quantification of interleukin-12 receptor subunit beta-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801716 name: interleukin-15 receptor subunit alpha measurement def: "Quantification of interleukin-15 receptor subunit alpha in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801717 name: interleukin-16 measurement def: "Quantification of interleukin-16 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801718 name: interleukin-17 receptor A measurement def: "Quantification of interleukin-17 receptor A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801719 name: interleukin-17 receptor B measurement def: "Quantification of interleukin-17 receptor B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801720 name: interleukin-17 receptor D measurement def: "Quantification of interleukin-17 receptor D in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801721 name: interleukin-18 receptor 1 measurement def: "Quantification of interleukin-18 receptor 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801722 name: interleukin-19 measurement def: "Quantification of interleukin-19 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801723 name: interleukin-2 measurement def: "Quantification of interleukin-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801724 name: interleukin-21 measurement def: "Quantification of interleukin-21 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801725 name: interleukin-23 receptor measurement def: "Quantification of interleukin-23 receptor in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801726 name: interleukin-25 measurement def: "Quantification of interleukin-25 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801727 name: interleukin-27 receptor subunit alpha measurement def: "Quantification of interleukin-27 receptor subunit alpha in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801728 name: interleukin-31 measurement def: "Quantification of interleukin-31 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801729 name: interleukin-5 measurement def: "Quantification of interleukin-5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801730 name: interleukin-5 receptor subunit alpha measurement def: "Quantification of interleukin-5 receptor subunit alpha in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801731 name: interleukin-6 receptor subunit alpha measurement def: "Quantification of interleukin-6 receptor subunit alpha in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801732 name: interleukin-6 receptor subunit beta measurement def: "Quantification of interleukin-6 receptor subunit beta in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801733 name: intersectin-1 measurement def: "Quantification of intersectin-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801734 name: intestinal-type alkaline phosphatase measurement def: "Quantification of intestinal-type alkaline phosphatase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801735 name: isochorismatase domain-containing protein 1 measurement def: "Quantification of isochorismatase domain-containing protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801736 name: IST1 homolog measurement def: "Quantification of IST1 homolog in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801737 name: isthmin-1 measurement def: "Quantification of isthmin-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801738 name: janus kinase and microtubule-interacting protein 3 measurement def: "Quantification of janus kinase and microtubule-interacting protein 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801739 name: kallikrein-6 measurement def: "Quantification of kallikrein-6 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801740 name: KDEL motif-containing protein 2 measurement def: "Quantification of KDEL motif-containing protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801741 name: kelch-like protein 13 measurement def: "Quantification of kelch-like protein 13 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801742 name: keratin-associated protein 2-4 measurement def: "Quantification of keratin-associated protein 2-4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801743 name: keratinocyte differentiation-associated protein measurement def: "Quantification of keratinocyte differentiation-associated protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801744 name: killer cell immunoglobulin-like receptor 2DL2 measurement def: "Quantification of killer cell immunoglobulin-like receptor 2DL2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801745 name: killer cell immunoglobulin-like receptor 2DL5A measurement def: "Quantification of killer cell immunoglobulin-like receptor 2DL5A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801746 name: killer cell immunoglobulin-like receptor 2DS2 measurement def: "Quantification of killer cell immunoglobulin-like receptor 2DS2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801747 name: kinesin-like protein KIF16B measurement def: "Quantification of kinesin-like protein KIF16B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801748 name: kinetochore protein NDC80 homolog measurement def: "Quantification of kinetochore protein NDC80 homolog in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801749 name: kremen protein 1 measurement def: "Quantification of kremen protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801750 name: kunitz-type protease inhibitor 3 measurement def: "Quantification of kunitz-type protease inhibitor 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801751 name: kv channel-interacting protein 1 measurement def: "Quantification of kv channel-interacting protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801752 name: kynurenine--oxoglutarate transaminase 3 measurement def: "Quantification of kynurenine--oxoglutarate transaminase 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801753 name: lactase-phlorizin hydrolase measurement def: "Quantification of lactase-phlorizin hydrolase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801754 name: lamina-associated polypeptide 2, isoforms beta/gamma measurement def: "Quantification of lamina-associated polypeptide 2, isoforms beta/gamma in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801755 name: laminin subunit alpha-4 measurement def: "Quantification of laminin subunit alpha-4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801756 name: laminin subunit gamma-2 measurement def: "Quantification of laminin subunit gamma-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801757 name: LEM domain-containing protein 1 measurement def: "Quantification of LEM domain-containing protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801758 name: leucine-rich PPR motif-containing protein, mitochondrial measurement def: "Quantification of leucine-rich PPR motif-containing protein, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801759 name: leucine-rich repeat and transmembrane domain-containing protein 2 measurement def: "Quantification of leucine-rich repeat and transmembrane domain-containing protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801760 name: leucine-rich repeat neuronal protein 1 measurement def: "Quantification of leucine-rich repeat neuronal protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801761 name: leucine-rich repeat-containing protein 15 measurement def: "Quantification of leucine-rich repeat-containing protein 15 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801762 name: leucine-rich repeat-containing protein 19 measurement def: "Quantification of leucine-rich repeat-containing protein 19 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801763 name: leucine-rich repeat-containing protein 74A measurement def: "Quantification of leucine-rich repeat-containing protein 74A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801764 name: leukemia inhibitory factor measurement def: "Quantification of leukemia inhibitory factor in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801765 name: leukocyte immunoglobulin-like receptor subfamily A member 4 measurement def: "Quantification of leukocyte immunoglobulin-like receptor subfamily A member 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801766 name: leukocyte immunoglobulin-like receptor subfamily A member 5 measurement def: "Quantification of leukocyte immunoglobulin-like receptor subfamily A member 5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801767 name: leukocyte immunoglobulin-like receptor subfamily A member 6 measurement def: "Quantification of leukocyte immunoglobulin-like receptor subfamily A member 6 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801768 name: leukocyte immunoglobulin-like receptor subfamily B member 4 measurement def: "Quantification of leukocyte immunoglobulin-like receptor subfamily B member 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801769 name: leukocyte immunoglobulin-like receptor subfamily B member 5 measurement def: "Quantification of leukocyte immunoglobulin-like receptor subfamily B member 5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801770 name: lipase member N measurement def: "Quantification of lipase member N in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801771 name: lon protease homolog, mitochondrial measurement def: "Quantification of lon protease homolog, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801772 name: low-density lipoprotein receptor-related protein 1, soluble measurement def: "Quantification of low-density lipoprotein receptor-related protein 1, soluble in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801773 name: lutropin subunit beta measurement def: "Quantification of lutropin subunit beta in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801774 name: lymphocyte antigen 6 complex locus protein G6c measurement def: "Quantification of lymphocyte antigen 6 complex locus protein G6c in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801775 name: lysophosphatidylcholine acyltransferase 2 measurement def: "Quantification of lysophosphatidylcholine acyltransferase 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801776 name: lysosomal acid phosphatase measurement def: "Quantification of lysosomal acid phosphatase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801777 name: lysosomal Pro-X carboxypeptidase measurement def: "Quantification of lysosomal Pro-X carboxypeptidase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801778 name: lysozyme g-like protein 1 measurement def: "Quantification of lysozyme g-like protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801779 name: lysozyme-like protein 2 measurement def: "Quantification of lysozyme-like protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801780 name: m-phase inducer phosphatase 2 measurement def: "Quantification of m-phase inducer phosphatase 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801781 name: MAGUK p55 subfamily member 6 measurement def: "Quantification of MAGUK p55 subfamily member 6 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801782 name: malignant T-cell-amplified sequence 1 measurement def: "Quantification of malignant T-cell-amplified sequence 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801783 name: mannosyl-oligosaccharide 1,2-alpha-mannosidase IB measurement def: "Quantification of mannosyl-oligosaccharide 1,2-alpha-mannosidase IB in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801784 name: MANSC domain-containing protein 1 measurement def: "Quantification of MANSC domain-containing protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801785 name: MANSC domain-containing protein 4 measurement def: "Quantification of MANSC domain-containing protein 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801786 name: maspardin measurement def: "Quantification of maspardin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801787 name: mast cell-expressed membrane protein 1 measurement def: "Quantification of mast cell-expressed membrane protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801788 name: matrilin-4 measurement def: "Quantification of matrilin-4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801789 name: matrix-remodeling-associated protein 7 measurement def: "Quantification of matrix-remodeling-associated protein 7 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801790 name: MAX gene-associated protein measurement def: "Quantification of MAX gene-associated protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801791 name: mediator of RNA polymerase II transcription subunit 4 measurement def: "Quantification of mediator of RNA polymerase II transcription subunit 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801792 name: melanocyte protein PMEL measurement def: "Quantification of melanocyte protein PMEL in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801793 name: melanoma-associated antigen 10 measurement def: "Quantification of melanoma-associated antigen 10 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801794 name: melanoma-associated antigen 3 measurement def: "Quantification of melanoma-associated antigen 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801795 name: membrane protein FAM174A measurement def: "Quantification of membrane protein FAM174A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801796 name: membrane-associated progesterone receptor component 2 measurement def: "Quantification of membrane-associated progesterone receptor component 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801797 name: metalloproteinase inhibitor 4 measurement def: "Quantification of metalloproteinase inhibitor 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801798 name: metallothionein-1F measurement def: "Quantification of metallothionein-1F in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801799 name: MICAL-like protein 2 measurement def: "Quantification of MICAL-like protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801800 name: MICOS complex subunit MIC10 measurement def: "Quantification of MICOS complex subunit MIC10 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801801 name: microfibrillar-associated protein 2 measurement def: "Quantification of microfibrillar-associated protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801802 name: mineralocorticoid receptor measurement def: "Quantification of mineralocorticoid receptor in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801803 name: mitochondrial sodium/hydrogen exchanger 9B2 measurement def: "Quantification of mitochondrial sodium/hydrogen exchanger 9B2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801804 name: mitochondrial ubiquitin ligase activator of NFKB 1 measurement def: "Quantification of mitochondrial ubiquitin ligase activator of NFKB 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801805 name: mitogen-activated protein kinase kinase kinase 3 measurement def: "Quantification of mitogen-activated protein kinase kinase kinase 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801806 name: mitotic checkpoint serine/threonine-protein kinase BUB1 measurement def: "Quantification of mitotic checkpoint serine/threonine-protein kinase BUB1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801807 name: mitotic spindle assembly checkpoint protein MAD1 measurement def: "Quantification of mitotic spindle assembly checkpoint protein MAD1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801808 name: mothers against decapentaplegic homolog 4 measurement def: "Quantification of mothers against decapentaplegic homolog 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801809 name: multimerin-2 measurement def: "Quantification of multimerin-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801810 name: multiple coagulation factor deficiency protein 2 measurement def: "Quantification of multiple coagulation factor deficiency protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801811 name: multiple inositol polyphosphate phosphatase 1 measurement def: "Quantification of multiple inositol polyphosphate phosphatase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801812 name: myc target protein 1 measurement def: "Quantification of myc target protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801813 name: myelin protein P0 measurement def: "Quantification of myelin protein P0 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801814 name: myotonin-protein kinase measurement def: "Quantification of myotonin-protein kinase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801815 name: n-acetylated-alpha-linked acidic dipeptidase 2 measurement def: "Quantification of n-acetylated-alpha-linked acidic dipeptidase 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801816 name: n-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase measurement def: "Quantification of n-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801817 name: n-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2 measurement def: "Quantification of n-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801818 name: n-acetylserotonin O-methyltransferase-like protein measurement def: "Quantification of n-acetylserotonin O-methyltransferase-like protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801819 name: n-acetyltransferase 14 measurement def: "Quantification of n-acetyltransferase 14 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801820 name: n-terminal Xaa-Pro-Lys N-methyltransferase 1 measurement def: "Quantification of n-terminal Xaa-Pro-Lys N-methyltransferase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801821 name: NAD kinase measurement def: "Quantification of NAD kinase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801822 name: NAD-dependent protein deacylase sirtuin-5, mitochondrial measurement def: "Quantification of NAD-dependent protein deacylase sirtuin-5, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801823 name: neogenin measurement def: "Quantification of neogenin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801824 name: nesprin-2 measurement def: "Quantification of nesprin-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801825 name: netrin-G1 measurement def: "Quantification of netrin-G1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801826 name: neural cell adhesion molecule 1 measurement def: "Quantification of neural cell adhesion molecule 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801827 name: neural cell adhesion molecule 2 measurement def: "Quantification of neural cell adhesion molecule 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801828 name: neurensin-1 measurement def: "Quantification of neurensin-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801829 name: neurexin-1 measurement def: "Quantification of neurexin-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801830 name: neuroendocrine convertase 1 measurement def: "Quantification of neuroendocrine convertase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801831 name: neurofascin measurement def: "Quantification of neurofascin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801832 name: neuron-specific protein family member 2 measurement def: "Quantification of neuron-specific protein family member 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801833 name: neuronal pentraxin-1 measurement def: "Quantification of neuronal pentraxin-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801834 name: neuronal pentraxin-2 measurement def: "Quantification of neuronal pentraxin-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801835 name: neuropeptide W measurement def: "Quantification of neuropeptide W in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801836 name: neuropilin-2 measurement def: "Quantification of neuropilin-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801837 name: neutrophil cytosol factor 2 measurement def: "Quantification of neutrophil cytosol factor 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801838 name: next to BRCA1 gene 1 protein measurement def: "Quantification of next to BRCA1 gene 1 protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801839 name: NHL repeat-containing protein 3 measurement def: "Quantification of NHL repeat-containing protein 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801840 name: NHP2-like protein 1 measurement def: "Quantification of NHP2-like protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801841 name: nischarin measurement def: "Quantification of nischarin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801842 name: NKG2-E type II integral membrane protein measurement def: "Quantification of NKG2-E type II integral membrane protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801843 name: NKG2D ligand 4 measurement def: "Quantification of NKG2D ligand 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801844 name: nmrA-like family domain-containing protein 1 measurement def: "Quantification of nmrA-like family domain-containing protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801845 name: non-secretory ribonuclease measurement def: "Quantification of non-secretory ribonuclease in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801846 name: normal mucosa of esophagus-specific gene 1 protein measurement def: "Quantification of normal mucosa of esophagus-specific gene 1 protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801847 name: NTF2-related export protein 1 measurement def: "Quantification of NTF2-related export protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801848 name: nuclear factor erythroid 2-related factor 1 measurement def: "Quantification of nuclear factor erythroid 2-related factor 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801849 name: nuclear migration protein nudC measurement def: "Quantification of nuclear migration protein nudC in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801850 name: nuclear pore complex-interacting protein family member B3 measurement def: "Quantification of nuclear pore complex-interacting protein family member B3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801851 name: nuclear protein localization protein 4 homolog measurement def: "Quantification of nuclear protein localization protein 4 homolog in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801852 name: nuclear receptor coactivator 2 measurement def: "Quantification of nuclear receptor coactivator 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801853 name: nuclear receptor subfamily 1 group D member 2 measurement def: "Quantification of nuclear receptor subfamily 1 group D member 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801854 name: nuclear receptor-binding protein measurement def: "Quantification of nuclear receptor-binding protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801855 name: nuclear RNA export factor 1 measurement def: "Quantification of nuclear RNA export factor 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801856 name: nucleolin measurement def: "Quantification of nucleolin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801857 name: nucleosome assembly protein 1-like 2 measurement def: "Quantification of nucleosome assembly protein 1-like 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801858 name: obg-like ATPase 1 measurement def: "Quantification of obg-like ATPase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801859 name: odorant-binding protein 2b measurement def: "Quantification of odorant-binding protein 2b in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801860 name: oncostatin-M-specific receptor subunit beta measurement def: "Quantification of oncostatin-M-specific receptor subunit beta in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801861 name: opalin measurement def: "Quantification of opalin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801862 name: out at first protein homolog measurement def: "Quantification of out at first protein homolog in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801863 name: oxidoreductase HTATIP2 measurement def: "Quantification of oxidoreductase HTATIP2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801864 name: oxysterol-binding protein-related protein 11 measurement def: "Quantification of oxysterol-binding protein-related protein 11 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801865 name: oxysterols receptor LXR-beta measurement def: "Quantification of oxysterols receptor LXR-beta in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801866 name: paired immunoglobulin-like type 2 receptor alpha measurement def: "Quantification of paired immunoglobulin-like type 2 receptor alpha in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801867 name: palmitoyl-protein thioesterase 1 measurement def: "Quantification of palmitoyl-protein thioesterase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801868 name: PAX-interacting protein 1 measurement def: "Quantification of PAX-interacting protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801869 name: PDZK1-interacting protein 1 measurement def: "Quantification of PDZK1-interacting protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801870 name: peptide chain release factor 1-like, mitochondrial measurement def: "Quantification of peptide chain release factor 1-like, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801871 name: peptidyl-glycine alpha-amidating monooxygenase measurement def: "Quantification of peptidyl-glycine alpha-amidating monooxygenase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801872 name: peptidyl-prolyl cis-trans isomerase FKBP14 measurement def: "Quantification of peptidyl-prolyl cis-trans isomerase FKBP14 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801873 name: peptidyl-prolyl cis-trans isomerase FKBP7 measurement def: "Quantification of peptidyl-prolyl cis-trans isomerase FKBP7 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801874 name: peptidyl-prolyl cis-trans isomerase H measurement def: "Quantification of peptidyl-prolyl cis-trans isomerase H in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801875 name: peptidyl-prolyl cis-trans isomerase NIMA-interacting 4 measurement def: "Quantification of peptidyl-prolyl cis-trans isomerase NIMA-interacting 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801876 name: peptidyl-prolyl cis-trans isomerase-like 1 measurement def: "Quantification of peptidyl-prolyl cis-trans isomerase-like 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801877 name: peptidyl-prolyl cis-trans isomerase-like 2 measurement def: "Quantification of peptidyl-prolyl cis-trans isomerase-like 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801878 name: peroxisomal NADH pyrophosphatase NUDT12 measurement def: "Quantification of peroxisomal NADH pyrophosphatase NUDT12 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801879 name: phenylalanine--tRNA ligase, mitochondrial measurement def: "Quantification of phenylalanine--tRNA ligase, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801880 name: phosducin-like protein 2 measurement def: "Quantification of phosducin-like protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801881 name: phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha measurement def: "Quantification of phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801882 name: phosphatidylinositol-glycan-specific phospholipase D measurement def: "Quantification of phosphatidylinositol-glycan-specific phospholipase D in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801883 name: phosphomevalonate kinase measurement def: "Quantification of phosphomevalonate kinase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801884 name: pirin measurement def: "Quantification of pirin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801885 name: plastin-2 measurement def: "Quantification of plastin-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801886 name: platelet endothelial aggregation receptor 1 measurement def: "Quantification of platelet endothelial aggregation receptor 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801887 name: platelet factor 4 variant measurement def: "Quantification of platelet factor 4 variant in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801888 name: platelet-derived growth factor D measurement def: "Quantification of platelet-derived growth factor D in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801889 name: platelet-derived growth factor receptor-like protein measurement def: "Quantification of platelet-derived growth factor receptor-like protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801890 name: platelet-derived growth factor subunit A measurement def: "Quantification of platelet-derived growth factor subunit A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801891 name: pleckstrin homology domain-containing family A member 7 measurement def: "Quantification of pleckstrin homology domain-containing family A member 7 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801892 name: plexin-A1 measurement def: "Quantification of plexin-A1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801893 name: poly(A) RNA polymerase, mitochondrial measurement def: "Quantification of poly(A) RNA polymerase, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801894 name: poly(rC)-binding protein 1 measurement def: "Quantification of poly(rC)-binding protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801895 name: poly(U)-binding-splicing factor PUF60 measurement def: "Quantification of poly(U)-binding-splicing factor PUF60 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801896 name: polyadenylate-binding protein 3 measurement def: "Quantification of polyadenylate-binding protein 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801897 name: polyadenylate-binding protein 4 measurement def: "Quantification of polyadenylate-binding protein 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801898 name: polycomb protein SCMH1 measurement def: "Quantification of polycomb protein SCMH1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801899 name: polypeptide N-acetylgalactosaminyltransferase 1 measurement def: "Quantification of polypeptide N-acetylgalactosaminyltransferase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801900 name: polypeptide N-acetylgalactosaminyltransferase 16 measurement def: "Quantification of polypeptide N-acetylgalactosaminyltransferase 16 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801901 name: potassium voltage-gated channel subfamily E member 2 measurement def: "Quantification of potassium voltage-gated channel subfamily E member 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801902 name: potassium voltage-gated channel subfamily E regulatory beta subunit 5 measurement def: "Quantification of potassium voltage-gated channel subfamily E regulatory beta subunit 5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801903 name: potassium-transporting ATPase subunit beta measurement def: "Quantification of potassium-transporting ATPase subunit beta in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801904 name: PR domain zinc finger protein 1 measurement def: "Quantification of PR domain zinc finger protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801905 name: pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 measurement def: "Quantification of pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801906 name: pregnancy-specific beta-1-glycoprotein 3 measurement def: "Quantification of pregnancy-specific beta-1-glycoprotein 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801907 name: pregnancy-specific beta-1-glycoprotein 4 measurement def: "Quantification of pregnancy-specific beta-1-glycoprotein 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801908 name: pregnancy-specific beta-1-glycoprotein 5 measurement def: "Quantification of pregnancy-specific beta-1-glycoprotein 5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801909 name: pregnancy-specific beta-1-glycoprotein 9 measurement def: "Quantification of pregnancy-specific beta-1-glycoprotein 9 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801910 name: prenylcysteine oxidase-like measurement def: "Quantification of prenylcysteine oxidase-like in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801911 name: pro-FMRFamide-related neuropeptide FF measurement def: "Quantification of pro-FMRFamide-related neuropeptide FF in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801912 name: proactivator polypeptide-like 1 measurement def: "Quantification of proactivator polypeptide-like 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801913 name: probable ATP-dependent RNA helicase DDX58 measurement def: "Quantification of probable ATP-dependent RNA helicase DDX58 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801914 name: probable carboxypeptidase X1 measurement def: "Quantification of probable carboxypeptidase X1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801915 name: probable dimethyladenosine transferase measurement def: "Quantification of probable dimethyladenosine transferase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801916 name: probable G-protein coupled receptor 135 measurement def: "Quantification of probable G-protein coupled receptor 135 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801917 name: probable RNA-binding protein 23 measurement def: "Quantification of probable RNA-binding protein 23 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801918 name: probable RNA-binding protein EIF1AD measurement def: "Quantification of probable RNA-binding protein EIF1AD in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801919 name: probable serine carboxypeptidase CPVL measurement def: "Quantification of probable serine carboxypeptidase CPVL in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801920 name: procollagen C-endopeptidase enhancer 1 measurement def: "Quantification of procollagen C-endopeptidase enhancer 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801921 name: procollagen C-endopeptidase enhancer 2 measurement def: "Quantification of procollagen C-endopeptidase enhancer 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801922 name: procollagen galactosyltransferase 1 measurement def: "Quantification of procollagen galactosyltransferase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801923 name: proenkephalin-A measurement def: "Quantification of proenkephalin-A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801924 name: progonadoliberin-1 measurement def: "Quantification of progonadoliberin-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801925 name: progonadoliberin-2 measurement def: "Quantification of progonadoliberin-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801926 name: programmed cell death protein 1 measurement def: "Quantification of programmed cell death protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801927 name: programmed cell death protein 5 measurement def: "Quantification of programmed cell death protein 5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801928 name: prolargin measurement def: "Quantification of prolargin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801929 name: prolow-density lipoprotein receptor-related protein 1 measurement def: "Quantification of prolow-density lipoprotein receptor-related protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801930 name: promotilin measurement def: "Quantification of promotilin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801931 name: prostaglandin F2 receptor negative regulator measurement def: "Quantification of prostaglandin F2 receptor negative regulator in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801932 name: prostaglandin reductase 1 measurement def: "Quantification of prostaglandin reductase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801933 name: prostaglandin-H2 D-isomerase measurement def: "Quantification of prostaglandin-H2 D-isomerase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801934 name: protachykinin-1 measurement def: "Quantification of protachykinin-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801935 name: protein C-ets-2 measurement def: "Quantification of protein C-ets-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801936 name: protein CEI measurement def: "Quantification of protein CEI in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801937 name: protein CREG1 measurement def: "Quantification of protein CREG1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801938 name: protein delta homolog 1 measurement def: "Quantification of protein delta homolog 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801939 name: protein DEPP measurement def: "Quantification of protein DEPP in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801940 name: protein DGCR14 measurement def: "Quantification of protein DGCR14 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801941 name: protein disulfide-isomerase A5 measurement def: "Quantification of protein disulfide-isomerase A5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801942 name: protein eva-1 homolog C measurement def: "Quantification of protein eva-1 homolog C in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801943 name: protein EVI2B measurement def: "Quantification of protein EVI2B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801944 name: protein FAM150B measurement def: "Quantification of protein FAM150B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801945 name: protein FAM151A measurement def: "Quantification of protein FAM151A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801946 name: protein FAM163A measurement def: "Quantification of protein FAM163A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801947 name: protein FAM171B measurement def: "Quantification of protein FAM171B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801948 name: protein FAM177A1 measurement def: "Quantification of protein FAM177A1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801949 name: protein FAM189A2 measurement def: "Quantification of protein FAM189A2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801950 name: protein kinase C-binding protein NELL1 measurement def: "Quantification of protein kinase C-binding protein NELL1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801951 name: protein LDOC1 measurement def: "Quantification of protein LDOC1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801952 name: protein MENT measurement def: "Quantification of protein MENT in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801953 name: protein MRVI1 measurement def: "Quantification of protein MRVI1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801954 name: protein NDRG4 measurement def: "Quantification of protein NDRG4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801955 name: protein O-glucosyltransferase 1 measurement def: "Quantification of protein O-glucosyltransferase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801956 name: protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 measurement def: "Quantification of protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801957 name: protein RIC-3 measurement def: "Quantification of protein RIC-3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801958 name: protein S100-A11 measurement def: "Quantification of protein S100-A11 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801959 name: protein S100-A13 measurement def: "Quantification of protein S100-A13 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801960 name: protein S100-A5 measurement def: "Quantification of protein S100-A5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801961 name: protein SEC13 homolog measurement def: "Quantification of protein SEC13 homolog in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801962 name: protein sel-1 homolog 2 measurement def: "Quantification of protein sel-1 homolog 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801963 name: protein SERAC1 measurement def: "Quantification of protein SERAC1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801964 name: protein shisa-3 homolog measurement def: "Quantification of protein shisa-3 homolog in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801965 name: protein SPACA7 measurement def: "Quantification of protein SPACA7 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801966 name: protein syndesmos measurement def: "Quantification of protein syndesmos in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801967 name: protein TMEPAI measurement def: "Quantification of protein TMEPAI in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801968 name: protein unc-93 homolog B1 measurement def: "Quantification of protein unc-93 homolog B1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801969 name: protein-tyrosine kinase 2-beta measurement def: "Quantification of protein-tyrosine kinase 2-beta in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801970 name: protein-tyrosine sulfotransferase 1 measurement def: "Quantification of protein-tyrosine sulfotransferase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801971 name: protein-tyrosine sulfotransferase 2 measurement def: "Quantification of protein-tyrosine sulfotransferase 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801972 name: protocadherin alpha-4 measurement def: "Quantification of protocadherin alpha-4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801973 name: protocadherin alpha-7 measurement def: "Quantification of protocadherin alpha-7 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801974 name: protocadherin beta-10 measurement def: "Quantification of protocadherin beta-10 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801975 name: protocadherin beta-2 measurement def: "Quantification of protocadherin beta-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801976 name: protocadherin beta-4 measurement def: "Quantification of protocadherin beta-4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801977 name: protocadherin gamma-C5 measurement def: "Quantification of protocadherin gamma-C5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801978 name: protocadherin-10 measurement def: "Quantification of protocadherin-10 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801979 name: pseudokinase FAM20A measurement def: "Quantification of pseudokinase FAM20A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801980 name: pulmonary surfactant-associated protein C measurement def: "Quantification of pulmonary surfactant-associated protein C in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801981 name: purine nucleoside phosphorylase measurement def: "Quantification of purine nucleoside phosphorylase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801982 name: pyruvate kinase PKLR measurement def: "Quantification of pyruvate kinase PKLR in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801983 name: RAB6-interacting Golgin measurement def: "Quantification of RAB6-interacting Golgin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801984 name: rab9 effector protein with kelch motifs measurement def: "Quantification of rab9 effector protein with kelch motifs in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801985 name: rac GTPase-activating protein 1 measurement def: "Quantification of rac GTPase-activating protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801986 name: ragulator complex protein LAMTOR3 measurement def: "Quantification of ragulator complex protein LAMTOR3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801987 name: rap1 GTPase-activating protein 1 measurement def: "Quantification of rap1 GTPase-activating protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801988 name: ras-related protein Rab-14 measurement def: "Quantification of ras-related protein Rab-14 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801989 name: ras-related protein Rab-26 measurement def: "Quantification of ras-related protein Rab-26 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801990 name: ras-related protein Rab-35 measurement def: "Quantification of ras-related protein Rab-35 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801991 name: receptor-type tyrosine-protein phosphatase H measurement def: "Quantification of receptor-type tyrosine-protein phosphatase H in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801992 name: recQ-mediated genome instability protein 1 measurement def: "Quantification of recQ-mediated genome instability protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801993 name: redox-regulatory protein FAM213A measurement def: "Quantification of redox-regulatory protein FAM213A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801994 name: regulation of nuclear pre-mRNA domain-containing protein 1A measurement def: "Quantification of regulation of nuclear pre-mRNA domain-containing protein 1A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801995 name: regulator of G-protein signaling 18 measurement def: "Quantification of regulator of G-protein signaling 18 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801996 name: regulator of G-protein signaling 19 measurement def: "Quantification of regulator of G-protein signaling 19 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801997 name: regulator of G-protein signaling 8 measurement def: "Quantification of regulator of G-protein signaling 8 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801998 name: regulator of microtubule dynamics protein 1 measurement def: "Quantification of regulator of microtubule dynamics protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0801999 name: regulatory factor X-associated protein measurement def: "Quantification of regulatory factor X-associated protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802000 name: RELT-like protein 1 measurement def: "Quantification of RELT-like protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802001 name: replication initiator 1 measurement def: "Quantification of replication initiator 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802002 name: retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta measurement def: "Quantification of retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802003 name: retinaldehyde-binding protein 1 measurement def: "Quantification of retinaldehyde-binding protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802004 name: retinoic acid receptor responder protein 1 measurement def: "Quantification of retinoic acid receptor responder protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802005 name: retinoic acid receptor responder protein 3 measurement def: "Quantification of retinoic acid receptor responder protein 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802006 name: retinoid-binding protein 7 measurement def: "Quantification of retinoid-binding protein 7 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802007 name: retinol dehydrogenase 16 measurement def: "Quantification of retinol dehydrogenase 16 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802008 name: retroviral-like aspartic protease 1 measurement def: "Quantification of retroviral-like aspartic protease 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802009 name: rho GDP-dissociation inhibitor 1 measurement def: "Quantification of rho GDP-dissociation inhibitor 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802010 name: rho GDP-dissociation inhibitor 2 measurement def: "Quantification of rho GDP-dissociation inhibitor 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802011 name: rho GTPase-activating protein 25 measurement def: "Quantification of rho GTPase-activating protein 25 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802012 name: rho GTPase-activating protein 30 measurement def: "Quantification of rho GTPase-activating protein 30 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802013 name: rho guanine nucleotide exchange factor 1 measurement def: "Quantification of rho guanine nucleotide exchange factor 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802014 name: rho guanine nucleotide exchange factor 10 measurement def: "Quantification of rho guanine nucleotide exchange factor 10 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802015 name: rhophilin-2 measurement def: "Quantification of rhophilin-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802016 name: riboflavin kinase measurement def: "Quantification of riboflavin kinase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802017 name: ribonuclease 4 measurement def: "Quantification of ribonuclease 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802018 name: ribonuclease K6 measurement def: "Quantification of ribonuclease K6 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802019 name: ribonuclease pancreatic measurement def: "Quantification of ribonuclease pancreatic in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802020 name: ribonuclease UK114 measurement def: "Quantification of ribonuclease UK114 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802021 name: ribonucleoside-diphosphate reductase large subunit measurement def: "Quantification of ribonucleoside-diphosphate reductase large subunit in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802022 name: ribonucleoside-diphosphate reductase subunit M2 B measurement def: "Quantification of ribonucleoside-diphosphate reductase subunit M2 B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802023 name: ribose-5-phosphate isomerase measurement def: "Quantification of ribose-5-phosphate isomerase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802024 name: ribosomal protein S6 kinase alpha-6 measurement def: "Quantification of ribosomal protein S6 kinase alpha-6 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802025 name: ribulose-phosphate 3-epimerase measurement def: "Quantification of ribulose-phosphate 3-epimerase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802026 name: rieske domain-containing protein measurement def: "Quantification of rieske domain-containing protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802027 name: RING finger protein 165 measurement def: "Quantification of RING finger protein 165 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802028 name: RNA polymerase II elongation factor ELL measurement def: "Quantification of RNA polymerase II elongation factor ELL in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802029 name: RNA polymerase II subunit A C-terminal domain phosphatase SSU72 measurement def: "Quantification of RNA polymerase II subunit A C-terminal domain phosphatase SSU72 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802030 name: RNA-binding protein 24 measurement def: "Quantification of RNA-binding protein 24 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802031 name: RNA-binding protein 3 measurement def: "Quantification of RNA-binding protein 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802032 name: RNA-binding protein EWS measurement def: "Quantification of RNA-binding protein EWS in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802033 name: rRNA methyltransferase 3, mitochondrial measurement def: "Quantification of rRNA methyltransferase 3, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802034 name: runt-related transcription factor 3 measurement def: "Quantification of runt-related transcription factor 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802035 name: salivary acidic proline-rich phosphoprotein 1/2 measurement def: "Quantification of salivary acidic proline-rich phosphoprotein 1/2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802036 name: sarcoplasmic/endoplasmic reticulum calcium ATPase 3 measurement def: "Quantification of sarcoplasmic/endoplasmic reticulum calcium ATPase 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802037 name: scavenger receptor class A member 5 measurement def: "Quantification of scavenger receptor class A member 5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802038 name: SCP2 sterol-binding domain-containing protein 1 measurement def: "Quantification of SCP2 sterol-binding domain-containing protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802039 name: secreted frizzled-related protein 2 measurement def: "Quantification of secreted frizzled-related protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802040 name: secreted Ly-6/uPAR-related protein 1 measurement def: "Quantification of secreted Ly-6/uPAR-related protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802041 name: secretoglobin family 1C member 1 measurement def: "Quantification of secretoglobin family 1C member 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802042 name: secretogranin-3 measurement def: "Quantification of secretogranin-3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802043 name: secretory phospholipase A2 receptor measurement def: "Quantification of secretory phospholipase A2 receptor in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802044 name: segment polarity protein dishevelled homolog DVL-2 measurement def: "Quantification of segment polarity protein dishevelled homolog DVL-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802045 name: selenide, water dikinase 1 measurement def: "Quantification of selenide, water dikinase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802046 name: selenoprotein S measurement def: "Quantification of selenoprotein S in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802047 name: semaphorin-3B measurement def: "Quantification of semaphorin-3B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802048 name: semaphorin-3C measurement def: "Quantification of semaphorin-3C in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802049 name: semaphorin-3G measurement def: "Quantification of semaphorin-3G in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802050 name: semaphorin-4D measurement def: "Quantification of semaphorin-4D in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802051 name: semenogelin-1 measurement def: "Quantification of semenogelin-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802052 name: semenogelin-2 measurement def: "Quantification of semenogelin-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802053 name: septin-10 measurement def: "Quantification of septin-10 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802054 name: serine protease inhibitor Kazal-type 2 measurement def: "Quantification of serine protease inhibitor Kazal-type 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802055 name: serine protease inhibitor Kazal-type 6 measurement def: "Quantification of serine protease inhibitor Kazal-type 6 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802056 name: serine-rich single-pass membrane protein 1 measurement def: "Quantification of serine-rich single-pass membrane protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802057 name: serine/arginine-rich splicing factor 7 measurement def: "Quantification of serine/arginine-rich splicing factor 7 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802058 name: serine/threonine-protein kinase MRCK alpha measurement def: "Quantification of serine/threonine-protein kinase MRCK alpha in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802059 name: serine/threonine-protein kinase PAK 4 measurement def: "Quantification of serine/threonine-protein kinase PAK 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802060 name: serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit alpha measurement def: "Quantification of serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit alpha in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802061 name: serpin A12 measurement def: "Quantification of serpin A12 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802062 name: serpin A9 measurement def: "Quantification of serpin A9 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802063 name: SH3 domain-binding protein 2 measurement def: "Quantification of SH3 domain-binding protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802064 name: sialic acid-binding Ig-like lectin 10 measurement def: "Quantification of sialic acid-binding Ig-like lectin 10 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802065 name: sialic acid-binding Ig-like lectin 11 measurement def: "Quantification of sialic acid-binding Ig-like lectin 11 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802066 name: sialic acid-binding Ig-like lectin 12 measurement def: "Quantification of sialic acid-binding Ig-like lectin 12 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802067 name: sialic acid-binding Ig-like lectin 8 measurement def: "Quantification of sialic acid-binding Ig-like lectin 8 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802068 name: signal peptidase complex catalytic subunit SEC11C measurement def: "Quantification of signal peptidase complex catalytic subunit SEC11C in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802069 name: signal-regulatory protein beta-1 measurement def: "Quantification of signal-regulatory protein beta-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802070 name: signal-regulatory protein beta-2 measurement def: "Quantification of signal-regulatory protein beta-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802071 name: signal-regulatory protein gamma measurement def: "Quantification of signal-regulatory protein gamma in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802072 name: single Ig IL-1-related receptor measurement def: "Quantification of single Ig IL-1-related receptor in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802073 name: ski-like protein measurement def: "Quantification of ski-like protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802074 name: SLIT and NTRK-like protein 3 measurement def: "Quantification of SLIT and NTRK-like protein 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802075 name: small integral membrane protein 9 measurement def: "Quantification of small integral membrane protein 9 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802076 name: sodium-coupled monocarboxylate transporter 1 measurement def: "Quantification of sodium-coupled monocarboxylate transporter 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802077 name: sodium/potassium-transporting ATPase subunit alpha-1 measurement def: "Quantification of sodium/potassium-transporting ATPase subunit alpha-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802078 name: sodium/potassium-transporting ATPase subunit beta-2 measurement def: "Quantification of sodium/potassium-transporting ATPase subunit beta-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802079 name: solute carrier family 22 member 16 measurement def: "Quantification of solute carrier family 22 member 16 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802080 name: solute carrier family 35 member G2 measurement def: "Quantification of solute carrier family 35 member G2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802081 name: sperm acrosome membrane-associated protein 3 measurement def: "Quantification of sperm acrosome membrane-associated protein 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802082 name: sperm-associated antigen 11A measurement def: "Quantification of sperm-associated antigen 11A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802083 name: spermatogenesis-associated protein 20 measurement def: "Quantification of spermatogenesis-associated protein 20 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802084 name: spliceosome RNA helicase DDX39B measurement def: "Quantification of spliceosome RNA helicase DDX39B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802085 name: splicing factor 1 measurement def: "Quantification of splicing factor 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802086 name: stabilin-1 measurement def: "Quantification of stabilin-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802087 name: stathmin-2 measurement def: "Quantification of stathmin-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802088 name: stathmin-3 measurement def: "Quantification of stathmin-3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802089 name: stathmin-4 measurement def: "Quantification of stathmin-4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802090 name: stem Cell Growth Factor-beta measurement def: "Quantification of stem Cell Growth Factor-beta in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802091 name: steroidogenic acute regulatory protein, mitochondrial measurement def: "Quantification of steroidogenic acute regulatory protein, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802092 name: sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating measurement def: "Quantification of sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802093 name: stromal interaction molecule 1 measurement def: "Quantification of stromal interaction molecule 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802094 name: stromal membrane-associated protein 1 measurement def: "Quantification of stromal membrane-associated protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802095 name: stromelysin-2 measurement def: "Quantification of stromelysin-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802096 name: structural maintenance of chromosomes protein 3 measurement def: "Quantification of structural maintenance of chromosomes protein 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802097 name: submaxillary gland androgen-regulated protein 3A measurement def: "Quantification of submaxillary gland androgen-regulated protein 3A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802098 name: sulfatase-modifying factor 1 measurement def: "Quantification of sulfatase-modifying factor 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802099 name: sulfhydryl oxidase 1 measurement def: "Quantification of sulfhydryl oxidase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802100 name: sulfhydryl oxidase 2 measurement def: "Quantification of sulfhydryl oxidase 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802101 name: sulfiredoxin-1 measurement def: "Quantification of sulfiredoxin-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802102 name: SUN domain-containing protein 3 measurement def: "Quantification of SUN domain-containing protein 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802103 name: SUN domain-containing protein 5 measurement def: "Quantification of SUN domain-containing protein 5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802104 name: suppressor of cytokine signaling 3 measurement def: "Quantification of suppressor of cytokine signaling 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802105 name: surfeit locus protein 1 measurement def: "Quantification of surfeit locus protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802106 name: Sushi domain-containing protein 2 measurement def: "Quantification of Sushi domain-containing protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802107 name: switch-associated protein 70 measurement def: "Quantification of switch-associated protein 70 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802108 name: synaptotagmin-11 measurement def: "Quantification of synaptotagmin-11 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802109 name: synaptotagmin-like protein 4 measurement def: "Quantification of synaptotagmin-like protein 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802110 name: syntaxin-10 measurement def: "Quantification of syntaxin-10 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802111 name: syntaxin-2 measurement def: "Quantification of syntaxin-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802112 name: syntaxin-7 measurement def: "Quantification of syntaxin-7 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802113 name: syntaxin-8 measurement def: "Quantification of syntaxin-8 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802114 name: T-cell surface glycoprotein CD3 epsilon chain measurement def: "Quantification of T-cell surface glycoprotein CD3 epsilon chain in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802115 name: T-cell surface protein tactile measurement def: "Quantification of T-cell surface protein tactile in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802116 name: t-SNARE domain-containing protein 1 measurement def: "Quantification of t-SNARE domain-containing protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802117 name: talin-2 measurement def: "Quantification of talin-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802118 name: tapasin measurement def: "Quantification of tapasin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802119 name: tapasin-related protein measurement def: "Quantification of tapasin-related protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802120 name: tax1-binding protein 3 measurement def: "Quantification of tax1-binding protein 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802121 name: tenascin-X measurement def: "Quantification of tenascin-X in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802122 name: tensin-2 measurement def: "Quantification of tensin-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802123 name: tensin-4 measurement def: "Quantification of tensin-4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802124 name: testican-3 measurement def: "Quantification of testican-3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802125 name: testis-expressed sequence 29 protein measurement def: "Quantification of testis-expressed sequence 29 protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802126 name: testis-specific basic protein Y 1 measurement def: "Quantification of testis-specific basic protein Y 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802127 name: testis-specific chromodomain protein Y 1 measurement def: "Quantification of testis-specific chromodomain protein Y 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802128 name: thioredoxin domain-containing protein 5 measurement def: "Quantification of thioredoxin domain-containing protein 5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802129 name: thioredoxin reductase 1, cytoplasmic measurement def: "Quantification of thioredoxin reductase 1, cytoplasmic in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802130 name: thiosulfate sulfurtransferase measurement def: "Quantification of thiosulfate sulfurtransferase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802131 name: thrombospondin type-1 domain-containing protein 1 measurement def: "Quantification of thrombospondin type-1 domain-containing protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802132 name: thymocyte nuclear protein 1 measurement def: "Quantification of thymocyte nuclear protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802133 name: toll-interacting protein measurement def: "Quantification of toll-interacting protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802134 name: toll/interleukin-1 receptor domain-containing adapter protein measurement def: "Quantification of toll/interleukin-1 receptor domain-containing adapter protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802135 name: tolloid-like protein 1 measurement def: "Quantification of tolloid-like protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802136 name: TOM1-like protein 1 measurement def: "Quantification of TOM1-like protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802137 name: torsin-1A-interacting protein 1 measurement def: "Quantification of torsin-1A-interacting protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802138 name: transcobalamin-1 measurement def: "Quantification of transcobalamin-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802139 name: transcobalamin-2 measurement def: "Quantification of transcobalamin-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802140 name: transcription factor RelB measurement def: "Quantification of transcription factor RelB in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802141 name: transcription regulator protein BACH1 measurement def: "Quantification of transcription regulator protein BACH1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802142 name: transferrin receptor protein 1 measurement def: "Quantification of transferrin receptor protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802143 name: transformer-2 protein homolog beta measurement def: "Quantification of transformer-2 protein homolog beta in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802144 name: transforming protein RhoA measurement def: "Quantification of transforming protein RhoA in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802145 name: translation initiation factor eIF-2B subunit alpha measurement def: "Quantification of translation initiation factor eIF-2B subunit alpha in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802146 name: transmembrane emp24 domain-containing protein 10 measurement def: "Quantification of transmembrane emp24 domain-containing protein 10 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802147 name: transmembrane gamma-carboxyglutamic acid protein 1 measurement def: "Quantification of transmembrane gamma-carboxyglutamic acid protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802148 name: transmembrane inner ear expressed protein measurement def: "Quantification of transmembrane inner ear expressed protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802149 name: transmembrane protease serine 11D measurement def: "Quantification of transmembrane protease serine 11D in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802150 name: transmembrane protein 132A measurement def: "Quantification of transmembrane protein 132A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802151 name: transmembrane protein 132B measurement def: "Quantification of transmembrane protein 132B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802152 name: transmembrane protein 132C measurement def: "Quantification of transmembrane protein 132C in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802153 name: transmembrane protein 132D measurement def: "Quantification of transmembrane protein 132D in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802154 name: transmembrane protein 190 measurement def: "Quantification of transmembrane protein 190 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802155 name: transmembrane protein 2 measurement def: "Quantification of transmembrane protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802156 name: transmembrane protein 230 measurement def: "Quantification of transmembrane protein 230 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802157 name: transmembrane protein 59-like measurement def: "Quantification of transmembrane protein 59-like in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802158 name: transmembrane protein 87B measurement def: "Quantification of transmembrane protein 87B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802159 name: trem-like transcript 2 protein measurement def: "Quantification of trem-like transcript 2 protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802160 name: trem-like transcript 4 protein measurement def: "Quantification of trem-like transcript 4 protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802161 name: triggering receptor expressed on myeloid cells 1 measurement def: "Quantification of triggering receptor expressed on myeloid cells 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802162 name: tRNA (guanine-N(7)-)-methyltransferase measurement def: "Quantification of tRNA (guanine-N(7)-)-methyltransferase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802163 name: tuberoinfundibular peptide of 39 residues measurement def: "Quantification of tuberoinfundibular peptide of 39 residues in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802164 name: tubulin polymerization-promoting protein family member 2 measurement def: "Quantification of tubulin polymerization-promoting protein family member 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802165 name: tubulin--tyrosine ligase measurement def: "Quantification of tubulin--tyrosine ligase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802166 name: tubulin-specific chaperone A measurement def: "Quantification of tubulin-specific chaperone A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802167 name: tubulin-specific chaperone E measurement def: "Quantification of tubulin-specific chaperone E in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802168 name: tumor necrosis factor receptor superfamily member 16 measurement def: "Quantification of tumor necrosis factor receptor superfamily member 16 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802169 name: tumor protein p53-inducible protein 11 measurement def: "Quantification of tumor protein p53-inducible protein 11 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802170 name: type 2 lactosamine alpha-2,3-sialyltransferase measurement def: "Quantification of type 2 lactosamine alpha-2,3-sialyltransferase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802171 name: tyrosine-protein kinase FRK measurement def: "Quantification of tyrosine-protein kinase FRK in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802172 name: tyrosine-protein phosphatase non-receptor type 4 measurement def: "Quantification of tyrosine-protein phosphatase non-receptor type 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802173 name: tyrosine-protein phosphatase non-receptor type 7 measurement def: "Quantification of tyrosine-protein phosphatase non-receptor type 7 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802174 name: tyrosine-protein phosphatase non-receptor type 9 measurement def: "Quantification of tyrosine-protein phosphatase non-receptor type 9 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802175 name: tyrosine-protein phosphatase non-receptor type substrate 1 measurement def: "Quantification of tyrosine-protein phosphatase non-receptor type substrate 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802176 name: U1 small nuclear ribonucleoprotein A measurement def: "Quantification of U1 small nuclear ribonucleoprotein A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802177 name: ubiquilin-4 measurement def: "Quantification of ubiquilin-4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802178 name: ubiquitin carboxyl-terminal hydrolase 21 measurement def: "Quantification of ubiquitin carboxyl-terminal hydrolase 21 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802179 name: ubiquitin carboxyl-terminal hydrolase 8 measurement def: "Quantification of ubiquitin carboxyl-terminal hydrolase 8 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802180 name: ubiquitin domain-containing protein 2 measurement def: "Quantification of ubiquitin domain-containing protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802181 name: ubiquitin-conjugating enzyme E2 D4 measurement def: "Quantification of ubiquitin-conjugating enzyme E2 D4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802182 name: ubiquitin-conjugating enzyme E2 variant 1 measurement def: "Quantification of ubiquitin-conjugating enzyme E2 variant 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802183 name: ubiquitin-like protein 4A measurement def: "Quantification of ubiquitin-like protein 4A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802184 name: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 measurement def: "Quantification of UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802185 name: UDP-glucuronosyltransferase 1-6 measurement def: "Quantification of UDP-glucuronosyltransferase 1-6 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802186 name: UDP-glucuronosyltransferase 2A1 measurement def: "Quantification of UDP-glucuronosyltransferase 2A1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802187 name: UDP-N-acetylhexosamine pyrophosphorylase measurement def: "Quantification of UDP-N-acetylhexosamine pyrophosphorylase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802188 name: uncharacterized family 31 glucosidase KIAA1161 measurement def: "Quantification of uncharacterized family 31 glucosidase KIAA1161 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802189 name: uncharacterized protein C10orf35 measurement def: "Quantification of uncharacterized protein C10orf35 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802190 name: uncharacterized protein C14orf93 measurement def: "Quantification of uncharacterized protein C14orf93 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802191 name: uncharacterized protein C17orf78 measurement def: "Quantification of uncharacterized protein C17orf78 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802192 name: uncharacterized protein C2orf66 measurement def: "Quantification of uncharacterized protein C2orf66 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802193 name: uncharacterized protein C3orf18 measurement def: "Quantification of uncharacterized protein C3orf18 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802194 name: uncharacterized protein C6orf226 measurement def: "Quantification of uncharacterized protein C6orf226 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802195 name: uncharacterized protein C7orf69 measurement def: "Quantification of uncharacterized protein C7orf69 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802196 name: uncharacterized protein KIAA0040 measurement def: "Quantification of uncharacterized protein KIAA0040 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802197 name: uncharacterized protein KIAA2013 measurement def: "Quantification of uncharacterized protein KIAA2013 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802198 name: unique cartilage matrix-associated protein measurement def: "Quantification of unique cartilage matrix-associated protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802199 name: UPF0454 protein C12orf49 measurement def: "Quantification of UPF0454 protein C12orf49 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802200 name: UPF0488 protein C8orf33 measurement def: "Quantification of UPF0488 protein C8orf33 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802201 name: UPF0577 protein KIAA1324-like measurement def: "Quantification of UPF0577 protein KIAA1324-like in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802202 name: UPF0696 protein C11orf68 measurement def: "Quantification of UPF0696 protein C11orf68 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802203 name: urea transporter 2 measurement def: "Quantification of urea transporter 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802204 name: uroplakin-3b-like protein measurement def: "Quantification of uroplakin-3b-like protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802205 name: uroporphyrinogen-III synthase measurement def: "Quantification of uroporphyrinogen-III synthase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802206 name: UV excision repair protein RAD23 homolog B measurement def: "Quantification of UV excision repair protein RAD23 homolog B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802207 name: vacuolar protein sorting-associated protein 29 measurement def: "Quantification of vacuolar protein sorting-associated protein 29 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802208 name: vacuolar protein sorting-associated protein 4A measurement def: "Quantification of vacuolar protein sorting-associated protein 4A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802209 name: vacuolar protein sorting-associated protein 4B measurement def: "Quantification of vacuolar protein sorting-associated protein 4B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802210 name: valine--tRNA ligase measurement def: "Quantification of valine--tRNA ligase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802211 name: very long-chain acyl-CoA synthetase measurement def: "Quantification of very long-chain acyl-CoA synthetase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802212 name: vesicle transport through interaction with t-SNAREs homolog 1B measurement def: "Quantification of vesicle transport through interaction with t-SNAREs homolog 1B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802213 name: vesicle-associated membrane protein-associated protein A measurement def: "Quantification of vesicle-associated membrane protein-associated protein A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802214 name: vesicle-fusing ATPase measurement def: "Quantification of vesicle-fusing ATPase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802215 name: vigilin measurement def: "Quantification of vigilin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802216 name: VIP36-like protein measurement def: "Quantification of VIP36-like protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802217 name: vitrin measurement def: "Quantification of vitrin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802218 name: voltage-dependent calcium channel subunit alpha-2/delta-3 measurement def: "Quantification of voltage-dependent calcium channel subunit alpha-2/delta-3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802219 name: voltage-gated potassium channel subunit beta-2 measurement def: "Quantification of voltage-gated potassium channel subunit beta-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802220 name: WAP four-disulfide core domain protein 3 measurement def: "Quantification of WAP four-disulfide core domain protein 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802221 name: WD repeat-containing protein 1 measurement def: "Quantification of WD repeat-containing protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802222 name: WSC domain-containing protein 2 measurement def: "Quantification of WSC domain-containing protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802223 name: xyloside xylosyltransferase 1 measurement def: "Quantification of xyloside xylosyltransferase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802224 name: y-box-binding protein 2 measurement def: "Quantification of y-box-binding protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802225 name: zinc finger protein 175 measurement def: "Quantification of zinc finger protein 175 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802226 name: zinc finger protein 18 measurement def: "Quantification of zinc finger protein 18 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802227 name: zinc finger protein 276 measurement def: "Quantification of zinc finger protein 276 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802228 name: zinc-alpha-2-glycoprotein measurement def: "Quantification of zinc-alpha-2-glycoprotein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802229 name: zona pellucida sperm-binding protein 4 measurement def: "Quantification of zona pellucida sperm-binding protein 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802230 name: [pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 2, mitochondrial measurement def: "Quantification of [pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 2, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802231 name: 17-beta-hydroxysteroid dehydrogenase 14 measurement def: "Quantification of 17-beta-hydroxysteroid dehydrogenase 14 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802232 name: 2',3'-cyclic-nucleotide 3'-phosphodiesterase measurement def: "Quantification of 2',3'-cyclic-nucleotide 3'-phosphodiesterase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802233 name: 26S proteasome non-ATPase regulatory subunit 1 measurement def: "Quantification of 26S proteasome non-ATPase regulatory subunit 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802234 name: 26S proteasome non-ATPase regulatory subunit 11 measurement def: "Quantification of 26S proteasome non-ATPase regulatory subunit 11 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802235 name: 26S proteasome non-ATPase regulatory subunit 4 measurement def: "Quantification of 26S proteasome non-ATPase regulatory subunit 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802236 name: 3-mercaptopyruvate sulfurtransferase measurement def: "Quantification of 3-mercaptopyruvate sulfurtransferase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802237 name: 39S ribosomal protein L14, mitochondrial measurement def: "Quantification of 39S ribosomal protein L14, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802238 name: 39S ribosomal protein L34, mitochondrial measurement def: "Quantification of 39S ribosomal protein L34, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802239 name: 39S ribosomal protein L52, mitochondrial measurement def: "Quantification of 39S ribosomal protein L52, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802240 name: 4-hydroxy-2-oxoglutarate aldolase, mitochondrial measurement def: "Quantification of 4-hydroxy-2-oxoglutarate aldolase, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802241 name: 5'-nucleotidase measurement def: "Quantification of 5'-nucleotidase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802242 name: 6-pyruvoyl tetrahydrobiopterin synthase measurement def: "Quantification of 6-pyruvoyl tetrahydrobiopterin synthase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802243 name: 60S acidic ribosomal protein P2 measurement def: "Quantification of 60S acidic ribosomal protein P2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802244 name: 72 kDa inositol polyphosphate 5-phosphatase measurement def: "Quantification of 72 kDa inositol polyphosphate 5-phosphatase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802245 name: a disintegrin and metalloproteinase with thrombospondin motifs 3 measurement def: "Quantification of a disintegrin and metalloproteinase with thrombospondin motifs 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802246 name: A/G-specific adenine DNA glycosylase measurement def: "Quantification of A/G-specific adenine DNA glycosylase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802247 name: aarF domain-containing protein kinase 4 measurement def: "Quantification of aarF domain-containing protein kinase 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802248 name: acetyl-CoA carboxylase 2 measurement def: "Quantification of acetyl-CoA carboxylase 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802249 name: acid-sensing ion channel 4 measurement def: "Quantification of acid-sensing ion channel 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802250 name: acidic leucine-rich nuclear phosphoprotein 32 family member A measurement def: "Quantification of acidic leucine-rich nuclear phosphoprotein 32 family member A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802251 name: actin-binding LIM protein 3 measurement def: "Quantification of actin-binding LIM protein 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802252 name: actin-related protein 2/3 complex subunit 3 measurement def: "Quantification of actin-related protein 2/3 complex subunit 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802253 name: activator of apoptosis harakiri measurement def: "Quantification of activator of apoptosis harakiri in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802254 name: ADAMTS-like protein 1 measurement def: "Quantification of ADAMTS-like protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802255 name: adenosine 3'-phospho 5'-phosphosulfate transporter 2 measurement def: "Quantification of adenosine 3'-phospho 5'-phosphosulfate transporter 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802256 name: adenylosuccinate synthetase isozyme 1 measurement def: "Quantification of adenylosuccinate synthetase isozyme 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802257 name: adenylyltransferase and sulfurtransferase MOCS3 measurement def: "Quantification of adenylyltransferase and sulfurtransferase MOCS3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802258 name: ADP-dependent glucokinase measurement def: "Quantification of ADP-dependent glucokinase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802259 name: ADP-ribosylation factor 3 measurement def: "Quantification of ADP-ribosylation factor 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802260 name: alanine aminotransferase 1 measurement def: "Quantification of alanine aminotransferase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802261 name: alcohol dehydrogenase 4 measurement def: "Quantification of alcohol dehydrogenase 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802262 name: all-trans-retinol 13,14-reductase measurement def: "Quantification of all-trans-retinol 13,14-reductase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802263 name: alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase measurement def: "Quantification of alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802264 name: alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C measurement def: "Quantification of alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802265 name: alpha-2,8-sialyltransferase 8B measurement def: "Quantification of alpha-2,8-sialyltransferase 8B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802266 name: alpha-2,8-sialyltransferase 8F measurement def: "Quantification of alpha-2,8-sialyltransferase 8F in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802267 name: alpha-crystallin A chain measurement def: "Quantification of alpha-crystallin A chain in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802268 name: alpha-internexin measurement def: "Quantification of alpha-internexin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802269 name: alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 measurement def: "Quantification of alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802270 name: alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 measurement def: "Quantification of alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802271 name: alpha-parvin measurement def: "Quantification of alpha-parvin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802272 name: alpha-S1-casein measurement def: "Quantification of alpha-S1-casein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802273 name: amphoterin-induced protein 1 measurement def: "Quantification of amphoterin-induced protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802274 name: AMSH-like protease measurement def: "Quantification of AMSH-like protease in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802275 name: amyloid beta A4 precursor protein-binding family B member 1 measurement def: "Quantification of amyloid beta A4 precursor protein-binding family B member 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802276 name: amyloid beta A4 precursor protein-binding family B member 3 measurement def: "Quantification of amyloid beta A4 precursor protein-binding family B member 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802277 name: anaphase-promoting complex subunit 10 measurement def: "Quantification of anaphase-promoting complex subunit 10 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802278 name: angiogenic factor with G patch and FHA domains 1 measurement def: "Quantification of angiogenic factor with G patch and FHA domains 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802279 name: angiopoietin-like protein 8 measurement def: "Quantification of angiopoietin-like protein 8 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802280 name: angiopoietin-related protein 7 measurement def: "Quantification of angiopoietin-related protein 7 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802281 name: ankyrin repeat domain-containing protein 27 measurement def: "Quantification of ankyrin repeat domain-containing protein 27 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802282 name: ankyrin repeat domain-containing protein 46 measurement def: "Quantification of ankyrin repeat domain-containing protein 46 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802283 name: annexin A9 measurement def: "Quantification of annexin A9 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802284 name: anosmin-1 measurement def: "Quantification of anosmin-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802285 name: antigen-presenting glycoprotein CD1d measurement def: "Quantification of antigen-presenting glycoprotein CD1d in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802286 name: arginine/serine-rich protein 1 measurement def: "Quantification of arginine/serine-rich protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802287 name: argininosuccinate lyase measurement def: "Quantification of argininosuccinate lyase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802288 name: armadillo repeat-containing protein 5 measurement def: "Quantification of armadillo repeat-containing protein 5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802289 name: arrestin domain-containing protein 3 measurement def: "Quantification of arrestin domain-containing protein 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802290 name: asialoglycoprotein receptor 2 measurement def: "Quantification of asialoglycoprotein receptor 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802291 name: astacin-like metalloendopeptidase measurement def: "Quantification of astacin-like metalloendopeptidase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802292 name: ATP-citrate synthase measurement def: "Quantification of ATP-citrate synthase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802293 name: ATP-dependent DNA helicase Q1 measurement def: "Quantification of ATP-dependent DNA helicase Q1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802294 name: ATP-dependent RNA helicase A measurement def: "Quantification of ATP-dependent RNA helicase A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802295 name: ATP-dependent RNA helicase DDX25 measurement def: "Quantification of ATP-dependent RNA helicase DDX25 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802296 name: ATPase ASNA1 measurement def: "Quantification of ATPase ASNA1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802297 name: ATPase family AAA domain-containing protein 1 measurement def: "Quantification of ATPase family AAA domain-containing protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802298 name: ATPase family AAA domain-containing protein 2 measurement def: "Quantification of ATPase family AAA domain-containing protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802299 name: b melanoma antigen 3 measurement def: "Quantification of b melanoma antigen 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802300 name: B-cell antigen receptor complex-associated protein beta chain measurement def: "Quantification of B-cell antigen receptor complex-associated protein beta chain in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802301 name: B-cell receptor-associated protein 29 measurement def: "Quantification of B-cell receptor-associated protein 29 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802302 name: BAG family molecular chaperone regulator 3 measurement def: "Quantification of BAG family molecular chaperone regulator 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802303 name: BAG family molecular chaperone regulator 4 measurement def: "Quantification of BAG family molecular chaperone regulator 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802304 name: BCL2/adenovirus E1B 19 kDa protein-interacting protein 3 measurement def: "Quantification of BCL2/adenovirus E1B 19 kDa protein-interacting protein 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802305 name: BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like measurement def: "Quantification of BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802306 name: beclin-1 measurement def: "Quantification of beclin-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802307 name: BET1-like protein measurement def: "Quantification of BET1-like protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802308 name: beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase measurement def: "Quantification of beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802309 name: beta-1,3-galactosyltransferase 6 measurement def: "Quantification of beta-1,3-galactosyltransferase 6 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802310 name: beta-1,3-glucosyltransferase measurement def: "Quantification of beta-1,3-glucosyltransferase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802311 name: beta-1,3-N-acetylglucosaminyltransferase manic fringe measurement def: "Quantification of beta-1,3-N-acetylglucosaminyltransferase manic fringe in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802312 name: beta-1,4-galactosyltransferase 3 measurement def: "Quantification of beta-1,4-galactosyltransferase 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802313 name: beta-1,4-galactosyltransferase 5 measurement def: "Quantification of beta-1,4-galactosyltransferase 5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802314 name: beta-1,4-galactosyltransferase 7 measurement def: "Quantification of beta-1,4-galactosyltransferase 7 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802315 name: beta-defensin 103 measurement def: "Quantification of beta-defensin 103 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802316 name: beta-defensin 106 measurement def: "Quantification of beta-defensin 106 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802317 name: beta-defensin 107 measurement def: "Quantification of beta-defensin 107 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802318 name: beta-defensin 108B measurement def: "Quantification of beta-defensin 108B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802319 name: beta-defensin 110 measurement def: "Quantification of beta-defensin 110 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802320 name: beta-defensin 113 measurement def: "Quantification of beta-defensin 113 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802321 name: beta-defensin 115 measurement def: "Quantification of beta-defensin 115 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802322 name: beta-defensin 116 measurement def: "Quantification of beta-defensin 116 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802323 name: beta-defensin 118 measurement def: "Quantification of beta-defensin 118 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802324 name: beta-defensin 121 measurement def: "Quantification of beta-defensin 121 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802325 name: beta-defensin 123 measurement def: "Quantification of beta-defensin 123 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802326 name: beta-defensin 125 measurement def: "Quantification of beta-defensin 125 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802327 name: beta-defensin 134 measurement def: "Quantification of beta-defensin 134 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802328 name: beta-defensin 135 measurement def: "Quantification of beta-defensin 135 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802329 name: beta-defensin 136 measurement def: "Quantification of beta-defensin 136 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802330 name: beta-galactoside alpha-2,6-sialyltransferase 1 measurement def: "Quantification of beta-galactoside alpha-2,6-sialyltransferase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802331 name: bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1 measurement def: "Quantification of bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802332 name: bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 measurement def: "Quantification of bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802333 name: bile salt sulfotransferase measurement def: "Quantification of bile salt sulfotransferase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802334 name: bisphosphoglycerate mutase measurement def: "Quantification of bisphosphoglycerate mutase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802335 name: bolA-like protein 2 measurement def: "Quantification of bolA-like protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802336 name: BPI fold-containing family A member 1 measurement def: "Quantification of BPI fold-containing family A member 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802337 name: BRCA1-associated RING domain protein 1 measurement def: "Quantification of BRCA1-associated RING domain protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802338 name: BRISC complex subunit Abro1 measurement def: "Quantification of BRISC complex subunit Abro1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802339 name: bromodomain testis-specific protein measurement def: "Quantification of bromodomain testis-specific protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802340 name: BTB/POZ domain-containing protein KCTD5 measurement def: "Quantification of BTB/POZ domain-containing protein KCTD5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802341 name: butyrophilin-like protein 9 measurement def: "Quantification of butyrophilin-like protein 9 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802342 name: C-type lectin domain family 10 member A measurement def: "Quantification of C-type lectin domain family 10 member A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802343 name: C-type lectin domain family 14 member A measurement def: "Quantification of C-type lectin domain family 14 member A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802344 name: C-type lectin domain family 2 member A measurement def: "Quantification of C-type lectin domain family 2 member A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802345 name: C-type lectin domain family 2 member B measurement def: "Quantification of C-type lectin domain family 2 member B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802346 name: C-type lectin domain family 2 member L measurement def: "Quantification of C-type lectin domain family 2 member L in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802347 name: C-type lectin domain family 4 member D measurement def: "Quantification of C-type lectin domain family 4 member D in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802348 name: C-type lectin domain family 6 member A measurement def: "Quantification of C-type lectin domain family 6 member A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802349 name: C-type lectin domain family 7 member A measurement def: "Quantification of C-type lectin domain family 7 member A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802350 name: C-type lectin-like domain family 1 measurement def: "Quantification of C-type lectin-like domain family 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802351 name: C-X-C motif chemokine 14 measurement def: "Quantification of C-X-C motif chemokine 14 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802352 name: cadherin-related family member 3 measurement def: "Quantification of cadherin-related family member 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802353 name: calcineurin B homologous protein 1 measurement def: "Quantification of calcineurin B homologous protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802354 name: calcineurin B homologous protein 3 measurement def: "Quantification of calcineurin B homologous protein 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802355 name: calcium uptake protein 3, mitochondrial measurement def: "Quantification of calcium uptake protein 3, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802356 name: calcium-binding and coiled-coil domain-containing protein 2 measurement def: "Quantification of calcium-binding and coiled-coil domain-containing protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802357 name: calcium-binding protein 8 measurement def: "Quantification of calcium-binding protein 8 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802358 name: calcium-regulated heat stable protein 1 measurement def: "Quantification of calcium-regulated heat stable protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802359 name: calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A measurement def: "Quantification of calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802360 name: calcyphosin-like protein measurement def: "Quantification of calcyphosin-like protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802361 name: calpain-3 measurement def: "Quantification of calpain-3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802362 name: calsenilin measurement def: "Quantification of calsenilin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802363 name: calsyntenin-3 measurement def: "Quantification of calsyntenin-3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802364 name: cAMP-regulated phosphoprotein 21 measurement def: "Quantification of cAMP-regulated phosphoprotein 21 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802365 name: cancer/testis antigen 55 measurement def: "Quantification of cancer/testis antigen 55 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802366 name: carbohydrate sulfotransferase 14 measurement def: "Quantification of carbohydrate sulfotransferase 14 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802367 name: carbohydrate sulfotransferase 3 measurement def: "Quantification of carbohydrate sulfotransferase 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802368 name: carbohydrate sulfotransferase 5 measurement def: "Quantification of carbohydrate sulfotransferase 5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802369 name: carcinoembryonic antigen-related cell adhesion molecule 21 measurement def: "Quantification of carcinoembryonic antigen-related cell adhesion molecule 21 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802370 name: carcinoembryonic antigen-related cell adhesion molecule 4 measurement def: "Quantification of carcinoembryonic antigen-related cell adhesion molecule 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802371 name: cas scaffolding protein family member 4 measurement def: "Quantification of cas scaffolding protein family member 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802372 name: casein kinase I isoform delta measurement def: "Quantification of casein kinase I isoform delta in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802373 name: caseinolytic peptidase B protein homolog measurement def: "Quantification of caseinolytic peptidase B protein homolog in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802374 name: catenin alpha-2 measurement def: "Quantification of catenin alpha-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802375 name: cathepsin O measurement def: "Quantification of cathepsin O in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802376 name: caveolin-2 measurement def: "Quantification of caveolin-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802377 name: CCR4-NOT transcription complex subunit 1 measurement def: "Quantification of CCR4-NOT transcription complex subunit 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802378 name: CD44 antigen measurement def: "Quantification of CD44 antigen in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802379 name: CDGSH iron-sulfur domain-containing protein 2 measurement def: "Quantification of CDGSH iron-sulfur domain-containing protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802380 name: cell adhesion molecule 4 measurement def: "Quantification of cell adhesion molecule 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802381 name: cell cycle checkpoint protein RAD1 measurement def: "Quantification of cell cycle checkpoint protein RAD1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802382 name: cell cycle progression protein 1 measurement def: "Quantification of cell cycle progression protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802383 name: cell differentiation protein RCD1 homolog measurement def: "Quantification of cell differentiation protein RCD1 homolog in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802384 name: cell division control protein 42 homolog measurement def: "Quantification of cell division control protein 42 homolog in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802385 name: cell surface A33 antigen measurement def: "Quantification of cell surface A33 antigen in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802386 name: cellular retinoic acid-binding protein 2 measurement def: "Quantification of cellular retinoic acid-binding protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802387 name: centromere protein W measurement def: "Quantification of centromere protein W in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802388 name: ceramide synthase 5 measurement def: "Quantification of ceramide synthase 5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802389 name: cerebral cavernous malformations 2 protein measurement def: "Quantification of cerebral cavernous malformations 2 protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802390 name: ceroid-lipofuscinosis neuronal protein 5 measurement def: "Quantification of ceroid-lipofuscinosis neuronal protein 5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802391 name: cGMP-dependent 3',5'-cyclic phosphodiesterase measurement def: "Quantification of cGMP-dependent 3',5'-cyclic phosphodiesterase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802392 name: chloride intracellular channel protein 4 measurement def: "Quantification of chloride intracellular channel protein 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802393 name: chondroadherin measurement def: "Quantification of chondroadherin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802394 name: chondroitin sulfate proteoglycan 4 measurement def: "Quantification of chondroitin sulfate proteoglycan 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802395 name: chordin measurement def: "Quantification of chordin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802396 name: choriogonadotropin subunit beta variant 2 measurement def: "Quantification of choriogonadotropin subunit beta variant 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802397 name: chromodomain-helicase-DNA-binding protein 7 measurement def: "Quantification of chromodomain-helicase-DNA-binding protein 7 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802398 name: chymotrypsin-C measurement def: "Quantification of chymotrypsin-C in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802399 name: chymotrypsin-like elastase family member 2A measurement def: "Quantification of chymotrypsin-like elastase family member 2A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802400 name: chymotrypsin-like elastase family member 3B measurement def: "Quantification of chymotrypsin-like elastase family member 3B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802401 name: cilia- and flagella-associated protein 45 measurement def: "Quantification of cilia- and flagella-associated protein 45 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802402 name: clathrin heavy chain 1 measurement def: "Quantification of clathrin heavy chain 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802403 name: CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2 measurement def: "Quantification of CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802404 name: CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase measurement def: "Quantification of CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802405 name: CMRF35-like molecule 1 measurement def: "Quantification of CMRF35-like molecule 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802406 name: CMRF35-like molecule 2 measurement def: "Quantification of CMRF35-like molecule 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802407 name: CMRF35-like molecule 7 measurement def: "Quantification of CMRF35-like molecule 7 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802408 name: CMRF35-like molecule 9 measurement def: "Quantification of CMRF35-like molecule 9 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802409 name: cocaine- and amphetamine-regulated transcript protein measurement def: "Quantification of cocaine- and amphetamine-regulated transcript protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802410 name: coiled-coil domain-containing protein 134 measurement def: "Quantification of coiled-coil domain-containing protein 134 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802411 name: coiled-coil domain-containing protein 167 measurement def: "Quantification of coiled-coil domain-containing protein 167 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802412 name: coiled-coil domain-containing protein 51 measurement def: "Quantification of coiled-coil domain-containing protein 51 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802413 name: coiled-coil domain-containing protein 90B, mitochondrial measurement def: "Quantification of coiled-coil domain-containing protein 90B, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802414 name: coiled-coil-helix-coiled-coil-helix domain-containing protein 2 measurement def: "Quantification of coiled-coil-helix-coiled-coil-helix domain-containing protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802415 name: cold shock domain-containing protein C2 measurement def: "Quantification of cold shock domain-containing protein C2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802416 name: cold shock domain-containing protein E1 measurement def: "Quantification of cold shock domain-containing protein E1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802417 name: colipase-like protein 2 measurement def: "Quantification of colipase-like protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802418 name: collagen alpha-1(XX) chain measurement def: "Quantification of collagen alpha-1(XX) chain in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802419 name: collagen alpha-1(XXVI) chain measurement def: "Quantification of collagen alpha-1(XXVI) chain in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802420 name: collagen alpha-1(XXVIII) chain measurement def: "Quantification of collagen alpha-1(XXVIII) chain in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802421 name: collagen alpha-3(VI) chain measurement def: "Quantification of collagen alpha-3(VI) chain in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802422 name: collagen alpha-5(VI) chain measurement def: "Quantification of collagen alpha-5(VI) chain in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802423 name: collectrin measurement def: "Quantification of collectrin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802424 name: COMM domain-containing protein 1 measurement def: "Quantification of COMM domain-containing protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802425 name: complement C1q tumor necrosis factor-related protein 3 measurement def: "Quantification of complement C1q tumor necrosis factor-related protein 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802426 name: complement C1q-like protein 4 measurement def: "Quantification of complement C1q-like protein 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802427 name: complement component C1q receptor measurement def: "Quantification of complement component C1q receptor in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802428 name: conserved oligomeric Golgi complex subunit 8 measurement def: "Quantification of conserved oligomeric Golgi complex subunit 8 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802429 name: contactin-associated protein 1 measurement def: "Quantification of contactin-associated protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802430 name: corticoliberin measurement def: "Quantification of corticoliberin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802431 name: coxsackievirus and adenovirus receptor measurement def: "Quantification of coxsackievirus and adenovirus receptor in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802432 name: CUB domain-containing protein 1 measurement def: "Quantification of CUB domain-containing protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802433 name: cubilin measurement def: "Quantification of cubilin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802434 name: CUGBP Elav-like family member 2 measurement def: "Quantification of CUGBP Elav-like family member 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802435 name: cullin-3 measurement def: "Quantification of cullin-3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802436 name: cullin-4B measurement def: "Quantification of cullin-4B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802437 name: cullin-9 measurement def: "Quantification of cullin-9 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802438 name: cullin-associated NEDD8-dissociated protein 1 measurement def: "Quantification of cullin-associated NEDD8-dissociated protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802439 name: cyclic AMP-responsive element-binding protein 3-like protein 1 measurement def: "Quantification of cyclic AMP-responsive element-binding protein 3-like protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802440 name: cyclin-dependent kinase 2-associated protein 1 measurement def: "Quantification of cyclin-dependent kinase 2-associated protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802441 name: cyclin-dependent kinase 4 inhibitor B measurement def: "Quantification of cyclin-dependent kinase 4 inhibitor B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802442 name: cyclin-dependent kinase inhibitor 3 measurement def: "Quantification of cyclin-dependent kinase inhibitor 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802443 name: cystathionine beta-synthase measurement def: "Quantification of cystathionine beta-synthase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802444 name: cysteine and glycine-rich protein 2 measurement def: "Quantification of cysteine and glycine-rich protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802445 name: cysteine--tRNA ligase, cytoplasmic measurement def: "Quantification of cysteine--tRNA ligase, cytoplasmic in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802446 name: cysteine-rich motor neuron 1 protein measurement def: "Quantification of cysteine-rich motor neuron 1 protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802447 name: cytochrome b-c1 complex subunit 7 measurement def: "Quantification of cytochrome b-c1 complex subunit 7 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802448 name: cytochrome b5 measurement def: "Quantification of cytochrome b5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802449 name: cytochrome c oxidase subunit 5B, mitochondrial measurement def: "Quantification of cytochrome c oxidase subunit 5B, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802450 name: cytochrome c oxidase subunit 7A1, mitochondrial measurement def: "Quantification of cytochrome c oxidase subunit 7A1, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802451 name: cytoglobin measurement def: "Quantification of cytoglobin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802452 name: cytohesin-4 measurement def: "Quantification of cytohesin-4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802453 name: cytohesin-interacting protein measurement def: "Quantification of cytohesin-interacting protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802454 name: cytokine receptor-like factor 1 measurement def: "Quantification of cytokine receptor-like factor 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802455 name: DCC-interacting protein 13-alpha measurement def: "Quantification of DCC-interacting protein 13-alpha in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802456 name: DCN1-like protein 3 measurement def: "Quantification of DCN1-like protein 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802457 name: DDB1- and CUL4-associated factor 5 measurement def: "Quantification of DDB1- and CUL4-associated factor 5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802458 name: delta and Notch-like epidermal growth factor-related receptor measurement def: "Quantification of delta and Notch-like epidermal growth factor-related receptor in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802459 name: deoxynucleoside triphosphate triphosphohydrolase SAMHD1 measurement def: "Quantification of deoxynucleoside triphosphate triphosphohydrolase SAMHD1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802460 name: deoxyribonuclease-2-beta measurement def: "Quantification of deoxyribonuclease-2-beta in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802461 name: derlin-1 measurement def: "Quantification of derlin-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802462 name: dermokine measurement def: "Quantification of dermokine in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802463 name: desmin measurement def: "Quantification of desmin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802464 name: diamine acetyltransferase 1 measurement def: "Quantification of diamine acetyltransferase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802465 name: diamine acetyltransferase 2 measurement def: "Quantification of diamine acetyltransferase 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802466 name: dihydrolipoyl dehydrogenase, mitochondrial measurement def: "Quantification of dihydrolipoyl dehydrogenase, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802467 name: dihydropyrimidinase-related protein 3 measurement def: "Quantification of dihydropyrimidinase-related protein 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802468 name: dihydropyrimidinase-related protein 5 measurement def: "Quantification of dihydropyrimidinase-related protein 5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802469 name: dipeptidase 1 measurement def: "Quantification of dipeptidase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802470 name: disintegrin and metalloproteinase domain-containing protein 19 measurement def: "Quantification of disintegrin and metalloproteinase domain-containing protein 19 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802471 name: disintegrin and metalloproteinase domain-containing protein 29 measurement def: "Quantification of disintegrin and metalloproteinase domain-containing protein 29 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802472 name: disks large homolog 3 measurement def: "Quantification of disks large homolog 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802473 name: DNA dC->dU-editing enzyme APOBEC-3G measurement def: "Quantification of DNA dC->dU-editing enzyme APOBEC-3G in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802474 name: DNA excision repair protein ERCC-1 measurement def: "Quantification of DNA excision repair protein ERCC-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802475 name: DNA polymerase eta measurement def: "Quantification of DNA polymerase eta in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802476 name: DNA polymerase iota measurement def: "Quantification of DNA polymerase iota in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802477 name: DNA primase small subunit measurement def: "Quantification of DNA primase small subunit in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802478 name: DNA repair endonuclease XPF measurement def: "Quantification of DNA repair endonuclease XPF in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802479 name: DNA repair protein XRCC1 measurement def: "Quantification of DNA repair protein XRCC1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802480 name: DNA topoisomerase 2-binding protein 1 measurement def: "Quantification of DNA topoisomerase 2-binding protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802481 name: DNA-binding protein inhibitor ID-1 measurement def: "Quantification of DNA-binding protein inhibitor ID-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802482 name: DNA-binding protein inhibitor ID-2 measurement def: "Quantification of DNA-binding protein inhibitor ID-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802483 name: DNA-binding protein SATB1 measurement def: "Quantification of DNA-binding protein SATB1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802484 name: DNA-binding protein SATB2 measurement def: "Quantification of DNA-binding protein SATB2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802485 name: DNA-directed DNA/RNA polymerase mu measurement def: "Quantification of DNA-directed DNA/RNA polymerase mu in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802486 name: DnaJ homolog subfamily A member 4 measurement def: "Quantification of DnaJ homolog subfamily A member 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802487 name: DnaJ homolog subfamily B member 12 measurement def: "Quantification of DnaJ homolog subfamily B member 12 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802488 name: DnaJ homolog subfamily C member 10 measurement def: "Quantification of DnaJ homolog subfamily C member 10 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802489 name: DnaJ homolog subfamily C member 15 measurement def: "Quantification of DnaJ homolog subfamily C member 15 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802490 name: DnaJ homolog subfamily C member 18 measurement def: "Quantification of DnaJ homolog subfamily C member 18 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802491 name: DnaJ homolog subfamily C member 27 measurement def: "Quantification of DnaJ homolog subfamily C member 27 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802492 name: DnaJ homolog subfamily C member 4 measurement def: "Quantification of DnaJ homolog subfamily C member 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802493 name: double-strand break repair protein MRE11A measurement def: "Quantification of double-strand break repair protein MRE11A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802494 name: dual specificity protein phosphatase 15 measurement def: "Quantification of dual specificity protein phosphatase 15 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802495 name: dual specificity protein phosphatase 16 measurement def: "Quantification of dual specificity protein phosphatase 16 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802496 name: dual specificity protein phosphatase 6 measurement def: "Quantification of dual specificity protein phosphatase 6 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802497 name: dynein light chain Tctex-type 3 measurement def: "Quantification of dynein light chain Tctex-type 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802498 name: dyslexia-associated protein KIAA0319 measurement def: "Quantification of dyslexia-associated protein KIAA0319 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802499 name: dyslexia-associated protein KIAA0319-like protein measurement def: "Quantification of dyslexia-associated protein KIAA0319-like protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802500 name: dystroglycan measurement def: "Quantification of dystroglycan in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802501 name: E3 ISG15--protein ligase HERC5 measurement def: "Quantification of E3 ISG15--protein ligase HERC5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802502 name: E3 ubiquitin-protein ligase CCNB1IP1 measurement def: "Quantification of E3 ubiquitin-protein ligase CCNB1IP1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802503 name: E3 ubiquitin-protein ligase DTX1 measurement def: "Quantification of E3 ubiquitin-protein ligase DTX1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802504 name: E3 ubiquitin-protein ligase FANCL measurement def: "Quantification of E3 ubiquitin-protein ligase FANCL in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802505 name: E3 ubiquitin-protein ligase HECW1 measurement def: "Quantification of E3 ubiquitin-protein ligase HECW1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802506 name: e3 ubiquitin-protein ligase parkin measurement def: "Quantification of e3 ubiquitin-protein ligase parkin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802507 name: e3 ubiquitin-protein ligase pellino homolog 2 measurement def: "Quantification of e3 ubiquitin-protein ligase pellino homolog 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802508 name: E3 ubiquitin-protein ligase RBBP6 measurement def: "Quantification of E3 ubiquitin-protein ligase RBBP6 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802509 name: e3 ubiquitin-protein ligase rififylin measurement def: "Quantification of e3 ubiquitin-protein ligase rififylin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802510 name: E3 ubiquitin-protein ligase RNF114 measurement def: "Quantification of E3 ubiquitin-protein ligase RNF114 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802511 name: E3 ubiquitin-protein ligase RNF149 measurement def: "Quantification of E3 ubiquitin-protein ligase RNF149 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802512 name: E3 ubiquitin-protein ligase RNF34 measurement def: "Quantification of E3 ubiquitin-protein ligase RNF34 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802513 name: E3 ubiquitin-protein ligase ZFP91 measurement def: "Quantification of E3 ubiquitin-protein ligase ZFP91 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802514 name: early endosome antigen 1 measurement def: "Quantification of early endosome antigen 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802515 name: early placenta insulin-like peptide measurement def: "Quantification of early placenta insulin-like peptide in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802516 name: ecto-NOX disulfide-thiol exchanger 2 measurement def: "Quantification of ecto-NOX disulfide-thiol exchanger 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802517 name: ectonucleoside triphosphate diphosphohydrolase 6 measurement def: "Quantification of ectonucleoside triphosphate diphosphohydrolase 6 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802518 name: EF-hand calcium-binding domain-containing protein 14 measurement def: "Quantification of EF-hand calcium-binding domain-containing protein 14 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802519 name: EH domain-containing protein 4 measurement def: "Quantification of EH domain-containing protein 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802520 name: electroneutral sodium bicarbonate exchanger 1 measurement def: "Quantification of electroneutral sodium bicarbonate exchanger 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802521 name: EMI domain-containing protein 1 measurement def: "Quantification of EMI domain-containing protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802522 name: engulfment and cell motility protein 1 measurement def: "Quantification of engulfment and cell motility protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802523 name: enhancer of mRNA-decapping protein 4 measurement def: "Quantification of enhancer of mRNA-decapping protein 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802524 name: envoplakin measurement def: "Quantification of envoplakin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802525 name: EP300-interacting inhibitor of differentiation 3 measurement def: "Quantification of EP300-interacting inhibitor of differentiation 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802526 name: ephrin-B2 measurement def: "Quantification of ephrin-B2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802527 name: epididymal secretory protein E3-beta measurement def: "Quantification of epididymal secretory protein E3-beta in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802528 name: epididymal-specific lipocalin-8 measurement def: "Quantification of epididymal-specific lipocalin-8 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802529 name: ES1 protein homolog, mitochondrial measurement def: "Quantification of ES1 protein homolog, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802530 name: essential MCU regulator, mitochondrial measurement def: "Quantification of essential MCU regulator, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802531 name: estradiol 17-beta-dehydrogenase 2 measurement def: "Quantification of estradiol 17-beta-dehydrogenase 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802532 name: ethanolamine kinase 1 measurement def: "Quantification of ethanolamine kinase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802533 name: ETS homologous factor measurement def: "Quantification of ETS homologous factor in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802534 name: ETS-related transcription factor Elf-5 measurement def: "Quantification of ETS-related transcription factor Elf-5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802535 name: eukaryotic translation initiation factor 4 gamma 3 measurement def: "Quantification of eukaryotic translation initiation factor 4 gamma 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802536 name: exosome complex component CSL4 measurement def: "Quantification of exosome complex component CSL4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802537 name: f-box only protein 3 measurement def: "Quantification of f-box only protein 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802538 name: f-box/LRR-repeat protein 4 measurement def: "Quantification of f-box/LRR-repeat protein 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802539 name: f-box/LRR-repeat protein 5 measurement def: "Quantification of f-box/LRR-repeat protein 5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802540 name: fas apoptotic inhibitory molecule 3 measurement def: "Quantification of fas apoptotic inhibitory molecule 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802541 name: fAS-associated factor 2 measurement def: "Quantification of fAS-associated factor 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802542 name: fatty acid hydroxylase domain-containing protein 2 measurement def: "Quantification of fatty acid hydroxylase domain-containing protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802543 name: fatty-acid amide hydrolase 2 measurement def: "Quantification of fatty-acid amide hydrolase 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802544 name: Fc receptor-like protein 2 measurement def: "Quantification of Fc receptor-like protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802545 name: Fc receptor-like protein 5 measurement def: "Quantification of Fc receptor-like protein 5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802546 name: feline leukemia virus subgroup C receptor-related protein 1 measurement def: "Quantification of feline leukemia virus subgroup C receptor-related protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802547 name: fetal and adult testis-expressed transcript protein measurement def: "Quantification of fetal and adult testis-expressed transcript protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802548 name: fibrinogen C domain-containing protein 1 measurement def: "Quantification of fibrinogen C domain-containing protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802549 name: fibronectin type III domain-containing protein 4 measurement def: "Quantification of fibronectin type III domain-containing protein 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802550 name: fibulin-1 measurement def: "Quantification of fibulin-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802551 name: flap endonuclease 1 measurement def: "Quantification of flap endonuclease 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802552 name: follistatin-related protein 5 measurement def: "Quantification of follistatin-related protein 5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802553 name: forkhead box protein C2 measurement def: "Quantification of forkhead box protein C2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802554 name: forkhead box protein L2 measurement def: "Quantification of forkhead box protein L2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802555 name: fragile X mental retardation syndrome-related protein 1 measurement def: "Quantification of fragile X mental retardation syndrome-related protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802556 name: fructose-1,6-bisphosphatase isozyme 2 measurement def: "Quantification of fructose-1,6-bisphosphatase isozyme 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802557 name: fructose-bisphosphate aldolase C measurement def: "Quantification of fructose-bisphosphate aldolase C in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802558 name: g-protein coupled receptor 26 measurement def: "Quantification of g-protein coupled receptor 26 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802559 name: G0/G1 switch protein 2 measurement def: "Quantification of G0/G1 switch protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802560 name: gamma-crystallin D measurement def: "Quantification of gamma-crystallin D in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802561 name: gap junction alpha-8 protein measurement def: "Quantification of gap junction alpha-8 protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802562 name: gap junction delta-2 protein measurement def: "Quantification of gap junction delta-2 protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802563 name: gastric triacylglycerol lipase measurement def: "Quantification of gastric triacylglycerol lipase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802564 name: GDP-L-fucose synthase measurement def: "Quantification of GDP-L-fucose synthase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802565 name: GH3 domain-containing protein measurement def: "Quantification of GH3 domain-containing protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802566 name: gigaxonin measurement def: "Quantification of gigaxonin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802567 name: glioma pathogenesis-related protein 1 measurement def: "Quantification of glioma pathogenesis-related protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802568 name: glucagon-like peptide 1 receptor measurement def: "Quantification of glucagon-like peptide 1 receptor in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802569 name: glucocorticoid modulatory element-binding protein 2 measurement def: "Quantification of glucocorticoid modulatory element-binding protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802570 name: glutaminyl-peptide cyclotransferase measurement def: "Quantification of glutaminyl-peptide cyclotransferase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802571 name: glutathione S-transferase kappa 1 measurement def: "Quantification of glutathione S-transferase kappa 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802572 name: glutathione S-transferase theta-2B measurement def: "Quantification of glutathione S-transferase theta-2B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802573 name: glyceraldehyde-3-phosphate dehydrogenase, testis-specific measurement def: "Quantification of glyceraldehyde-3-phosphate dehydrogenase, testis-specific in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802574 name: glycerophosphocholine phosphodiesterase GPCPD1 measurement def: "Quantification of glycerophosphocholine phosphodiesterase GPCPD1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802575 name: glycolipid transfer protein measurement def: "Quantification of glycolipid transfer protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802576 name: glycophorin-A measurement def: "Quantification of glycophorin-A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802577 name: glycoprotein hormones alpha chain measurement def: "Quantification of glycoprotein hormones alpha chain in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802578 name: glycosyltransferase-like protein LARGE1 measurement def: "Quantification of glycosyltransferase-like protein LARGE1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802579 name: granulocyte-macrophage colony-stimulating factor receptor subunit alpha measurement def: "Quantification of granulocyte-macrophage colony-stimulating factor receptor subunit alpha in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802580 name: GRB2-related adapter protein measurement def: "Quantification of GRB2-related adapter protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802581 name: grpE protein homolog 1, mitochondrial measurement def: "Quantification of grpE protein homolog 1, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802582 name: GSK3-beta interaction protein measurement def: "Quantification of GSK3-beta interaction protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802583 name: GTP cyclohydrolase 1 measurement def: "Quantification of GTP cyclohydrolase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802584 name: GTP-binding protein Di-Ras3 measurement def: "Quantification of GTP-binding protein Di-Ras3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802585 name: guanine deaminase measurement def: "Quantification of guanine deaminase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802586 name: guanine nucleotide exchange factor DBS measurement def: "Quantification of guanine nucleotide exchange factor DBS in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802587 name: guanine nucleotide exchange factor VAV3 measurement def: "Quantification of guanine nucleotide exchange factor VAV3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802588 name: guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2 measurement def: "Quantification of guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802589 name: guanylate cyclase activator 2B measurement def: "Quantification of guanylate cyclase activator 2B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802590 name: hemoglobin subunit gamma-1 measurement def: "Quantification of hemoglobin subunit gamma-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802591 name: HEPACAM family member 2 measurement def: "Quantification of HEPACAM family member 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802592 name: heparan sulfate glucosamine 3-O-sulfotransferase 3B1 measurement def: "Quantification of heparan sulfate glucosamine 3-O-sulfotransferase 3B1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802593 name: heparan sulfate glucosamine 3-O-sulfotransferase 4 measurement def: "Quantification of heparan sulfate glucosamine 3-O-sulfotransferase 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802594 name: heparan-sulfate 6-O-sulfotransferase 2 measurement def: "Quantification of heparan-sulfate 6-O-sulfotransferase 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802595 name: hepatocyte growth factor-regulated tyrosine kinase substrate measurement def: "Quantification of hepatocyte growth factor-regulated tyrosine kinase substrate in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802596 name: hepatocyte nuclear factor 1-alpha measurement def: "Quantification of hepatocyte nuclear factor 1-alpha in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802597 name: hephaestin-like protein 1 measurement def: "Quantification of hephaestin-like protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802598 name: high affinity immunoglobulin alpha and immunoglobulin mu Fc receptor measurement def: "Quantification of high affinity immunoglobulin alpha and immunoglobulin mu Fc receptor in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802599 name: high mobility group protein 20A measurement def: "Quantification of high mobility group protein 20A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802600 name: histidine triad nucleotide-binding protein 2, mitochondrial measurement def: "Quantification of histidine triad nucleotide-binding protein 2, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802601 name: histone deacetylase complex subunit SAP30 measurement def: "Quantification of histone deacetylase complex subunit SAP30 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802602 name: histone H2A deubiquitinase MYSM1 measurement def: "Quantification of histone H2A deubiquitinase MYSM1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802603 name: histone-lysine N-methyltransferase ASH1L measurement def: "Quantification of histone-lysine N-methyltransferase ASH1L in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802604 name: histone-lysine N-methyltransferase SETD2 measurement def: "Quantification of histone-lysine N-methyltransferase SETD2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802605 name: histone-lysine N-methyltransferase SETMAR measurement def: "Quantification of histone-lysine N-methyltransferase SETMAR in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802606 name: histone-lysine N-methyltransferase SUV420H2 measurement def: "Quantification of histone-lysine N-methyltransferase SUV420H2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802607 name: HLA class II histocompatibility antigen gamma chain measurement def: "Quantification of HLA class II histocompatibility antigen gamma chain in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802608 name: homeobox protein TGIF2 measurement def: "Quantification of homeobox protein TGIF2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802609 name: homogentisate 1,2-dioxygenase measurement def: "Quantification of homogentisate 1,2-dioxygenase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802610 name: HRAS-like suppressor 2 measurement def: "Quantification of HRAS-like suppressor 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802611 name: HRAS-like suppressor 3 measurement def: "Quantification of HRAS-like suppressor 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802612 name: hyaluronidase-1 measurement def: "Quantification of hyaluronidase-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802613 name: hydroxycarboxylic acid receptor 2 measurement def: "Quantification of hydroxycarboxylic acid receptor 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802614 name: hydroxymethylglutaryl-CoA synthase, cytoplasmic measurement def: "Quantification of hydroxymethylglutaryl-CoA synthase, cytoplasmic in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802615 name: hydroxymethylglutaryl-CoA synthase, mitochondrial measurement def: "Quantification of hydroxymethylglutaryl-CoA synthase, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802616 name: ig gamma-2, Kappa measurement def: "Quantification of ig gamma-2, Kappa in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802617 name: ig Kappa chain V-I region HK102- like measurement def: "Quantification of ig Kappa chain V-I region HK102- like in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802618 name: igLON family member 5 measurement def: "Quantification of igLON family member 5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802619 name: immediate early response 3-interacting protein 1 measurement def: "Quantification of immediate early response 3-interacting protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802620 name: immunoglobulin J chain measurement def: "Quantification of immunoglobulin J chain in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802621 name: immunoglobulin superfamily member 11 measurement def: "Quantification of immunoglobulin superfamily member 11 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802622 name: immunoglobulin superfamily member 8 measurement def: "Quantification of immunoglobulin superfamily member 8 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802623 name: importin subunit alpha-3 measurement def: "Quantification of importin subunit alpha-3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802624 name: inactive dipeptidyl peptidase 10 measurement def: "Quantification of inactive dipeptidyl peptidase 10 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802625 name: inactive phospholipase D5 measurement def: "Quantification of inactive phospholipase D5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802626 name: inactive ribonuclease-like protein 10 measurement def: "Quantification of inactive ribonuclease-like protein 10 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802627 name: inositol-trisphosphate 3-kinase A measurement def: "Quantification of inositol-trisphosphate 3-kinase A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802628 name: insulin gene enhancer protein ISL-1 measurement def: "Quantification of insulin gene enhancer protein ISL-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802629 name: insulin-induced gene 1 protein measurement def: "Quantification of insulin-induced gene 1 protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802630 name: insulin-like 3 measurement def: "Quantification of insulin-like 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802631 name: insulin-like growth factor-binding protein-like 1 measurement def: "Quantification of insulin-like growth factor-binding protein-like 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802632 name: insulin-like peptide INSL5 measurement def: "Quantification of insulin-like peptide INSL5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802633 name: insulin-like peptide INSL6 measurement def: "Quantification of insulin-like peptide INSL6 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802634 name: integral membrane protein 2B measurement def: "Quantification of integral membrane protein 2B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802635 name: integral membrane protein 2C measurement def: "Quantification of integral membrane protein 2C in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802636 name: integral membrane protein DGCR2/IDD measurement def: "Quantification of integral membrane protein DGCR2/IDD in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802637 name: integrin alpha-5 measurement def: "Quantification of integrin alpha-5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802638 name: integrin alpha-L measurement def: "Quantification of integrin alpha-L in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802639 name: integrin beta-7 measurement def: "Quantification of integrin beta-7 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802640 name: interferon alpha-14 measurement def: "Quantification of interferon alpha-14 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802641 name: interferon alpha-4 measurement def: "Quantification of interferon alpha-4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802642 name: interferon alpha-5 measurement def: "Quantification of interferon alpha-5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802643 name: interferon alpha-6 measurement def: "Quantification of interferon alpha-6 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802644 name: interferon alpha-8 measurement def: "Quantification of interferon alpha-8 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802645 name: interferon beta measurement def: "Quantification of interferon beta in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802646 name: interferon lambda receptor 1 measurement def: "Quantification of interferon lambda receptor 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802647 name: interferon omega-1 measurement def: "Quantification of interferon omega-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802648 name: interferon regulatory factor 4 measurement def: "Quantification of interferon regulatory factor 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802649 name: interferon regulatory factor 6 measurement def: "Quantification of interferon regulatory factor 6 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802650 name: interferon regulatory factor 9 measurement def: "Quantification of interferon regulatory factor 9 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802651 name: interferon-induced protein with tetratricopeptide repeats 2 measurement def: "Quantification of interferon-induced protein with tetratricopeptide repeats 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802652 name: interleukin enhancer-binding factor 3 measurement def: "Quantification of interleukin enhancer-binding factor 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802653 name: obsolete_interleukin-1 alpha measurement def: "Quantification of interleukin-1 alpha in a sample." [] xref: PMID:29875488 property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.58.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication" xsd:string property_value: IAO:0000117 "Elizabeth Lewis" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0009412 [Term] id: EFO:0802654 name: interleukin-12 measurement def: "Quantification of interleukin-12 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802655 name: interleukin-13 measurement def: "Quantification of interleukin-13 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802656 name: interleukin-17C measurement def: "Quantification of interleukin-17C in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802657 name: interleukin-2 receptor subunit beta measurement def: "Quantification of interleukin-2 receptor subunit beta in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802658 name: interleukin-31 receptor subunit alpha measurement def: "Quantification of interleukin-31 receptor subunit alpha in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802659 name: interleukin-32 measurement def: "Quantification of interleukin-32 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802660 name: interleukin-36 gamma measurement def: "Quantification of interleukin-36 gamma in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802661 name: interleukin-4 measurement def: "Quantification of interleukin-4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802662 name: interleukin-7 measurement def: "Quantification of interleukin-7 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802663 name: interleukin-9 measurement def: "Quantification of interleukin-9 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802664 name: IQ domain-containing protein F1 measurement def: "Quantification of IQ domain-containing protein F1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802665 name: iron-sulfur cluster assembly enzyme ISCU, mitochondrial measurement def: "Quantification of iron-sulfur cluster assembly enzyme ISCU, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802666 name: isoleucine--tRNA ligase, cytoplasmic measurement def: "Quantification of isoleucine--tRNA ligase, cytoplasmic in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802667 name: junctophilin-1 measurement def: "Quantification of junctophilin-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802668 name: junctophilin-3 measurement def: "Quantification of junctophilin-3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802669 name: kallikrein-15 measurement def: "Quantification of kallikrein-15 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802670 name: kelch-like protein 12 measurement def: "Quantification of kelch-like protein 12 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802671 name: kell blood group glycoprotein measurement def: "Quantification of kell blood group glycoprotein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802672 name: keratin, type I cytoskeletal 17 measurement def: "Quantification of keratin, type I cytoskeletal 17 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802673 name: keratin, type I cytoskeletal 20 measurement def: "Quantification of keratin, type I cytoskeletal 20 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802674 name: keratin, type II cytoskeletal 5 measurement def: "Quantification of keratin, type II cytoskeletal 5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802675 name: keratin, type II cytoskeletal 7 measurement def: "Quantification of keratin, type II cytoskeletal 7 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802676 name: keratinocyte-associated transmembrane protein 2 measurement def: "Quantification of keratinocyte-associated transmembrane protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802677 name: killer cell immunoglobulin-like receptor 3DL3 measurement def: "Quantification of killer cell immunoglobulin-like receptor 3DL3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802678 name: kin of IRRE-like protein 2 measurement def: "Quantification of kin of IRRE-like protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802679 name: kinesin-like protein KIF1C measurement def: "Quantification of kinesin-like protein KIF1C in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802680 name: l-lactate dehydrogenase C chain measurement def: "Quantification of l-lactate dehydrogenase C chain in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802681 name: lactase-like protein measurement def: "Quantification of lactase-like protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802682 name: lactoferrin measurement def: "Quantification of lactoferrin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802683 name: lactosylceramide 4-alpha-galactosyltransferase measurement def: "Quantification of lactosylceramide 4-alpha-galactosyltransferase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802684 name: lactoylglutathione lyase measurement def: "Quantification of lactoylglutathione lyase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802685 name: ladinin-1 measurement def: "Quantification of ladinin-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802686 name: LDLR chaperone MESD measurement def: "Quantification of LDLR chaperone MESD in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802687 name: leiomodin-1 measurement def: "Quantification of leiomodin-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802688 name: leucine-rich repeat and calponin homology domain-containing protein 4 measurement def: "Quantification of leucine-rich repeat and calponin homology domain-containing protein 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802689 name: leucine-rich repeat and fibronectin type III domain-containing protein 1 measurement def: "Quantification of leucine-rich repeat and fibronectin type III domain-containing protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802690 name: leucine-rich repeat and fibronectin type-III domain-containing protein 2 measurement def: "Quantification of leucine-rich repeat and fibronectin type-III domain-containing protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802691 name: leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 measurement def: "Quantification of leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802692 name: leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 3 measurement def: "Quantification of leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802693 name: leucine-rich repeat and transmembrane domain-containing protein 1 measurement def: "Quantification of leucine-rich repeat and transmembrane domain-containing protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802694 name: leucine-rich repeat LGI family member 3 measurement def: "Quantification of leucine-rich repeat LGI family member 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802695 name: leucine-rich repeat neuronal protein 3 measurement def: "Quantification of leucine-rich repeat neuronal protein 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802696 name: leucine-rich repeat transmembrane neuronal protein 2 measurement def: "Quantification of leucine-rich repeat transmembrane neuronal protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802697 name: leucine-rich repeat transmembrane neuronal protein 4 measurement def: "Quantification of leucine-rich repeat transmembrane neuronal protein 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802698 name: leucine-rich repeat-containing protein 3 measurement def: "Quantification of leucine-rich repeat-containing protein 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802699 name: leucine-rich repeat-containing protein 37A2 measurement def: "Quantification of leucine-rich repeat-containing protein 37A2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802700 name: leucine-rich repeat-containing protein 4B measurement def: "Quantification of leucine-rich repeat-containing protein 4B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802701 name: leucine-rich repeat-containing protein 4C measurement def: "Quantification of leucine-rich repeat-containing protein 4C in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802702 name: leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 2 measurement def: "Quantification of leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802703 name: leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3 measurement def: "Quantification of leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802704 name: leukocyte cell-derived chemotaxin 1 measurement def: "Quantification of leukocyte cell-derived chemotaxin 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802705 name: leukocyte immunoglobulin-like receptor subfamily B member 3 measurement def: "Quantification of leukocyte immunoglobulin-like receptor subfamily B member 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802706 name: leukocyte-associated immunoglobulin-like receptor 1 measurement def: "Quantification of leukocyte-associated immunoglobulin-like receptor 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802707 name: leukocyte-specific transcript 1 protein measurement def: "Quantification of leukocyte-specific transcript 1 protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802708 name: LIM and cysteine-rich domains protein 1 measurement def: "Quantification of LIM and cysteine-rich domains protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802709 name: linker for activation of T-cells family member 1 measurement def: "Quantification of linker for activation of T-cells family member 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802710 name: linker for activation of T-cells family member 2 measurement def: "Quantification of linker for activation of T-cells family member 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802711 name: lipase member K measurement def: "Quantification of lipase member K in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802712 name: lipocalin-1 measurement def: "Quantification of lipocalin-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802713 name: lupus La protein measurement def: "Quantification of lupus La protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802714 name: lymphocyte antigen 6 complex locus protein G6d measurement def: "Quantification of lymphocyte antigen 6 complex locus protein G6d in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802715 name: lymphocyte function-associated antigen 3 measurement def: "Quantification of lymphocyte function-associated antigen 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802716 name: lymphoid-restricted membrane protein measurement def: "Quantification of lymphoid-restricted membrane protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802717 name: lysM and putative peptidoglycan-binding domain-containing protein 3 measurement def: "Quantification of lysM and putative peptidoglycan-binding domain-containing protein 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802718 name: lysM and putative peptidoglycan-binding domain-containing protein 4 measurement def: "Quantification of lysM and putative peptidoglycan-binding domain-containing protein 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802719 name: lysophospholipase-like protein 1 measurement def: "Quantification of lysophospholipase-like protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802720 name: lysosome-associated membrane glycoprotein 3 measurement def: "Quantification of lysosome-associated membrane glycoprotein 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802721 name: lysyl oxidase homolog 2 measurement def: "Quantification of lysyl oxidase homolog 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802722 name: macoilin measurement def: "Quantification of macoilin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802723 name: magnesium transporter NIPA4 measurement def: "Quantification of magnesium transporter NIPA4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802724 name: MAGUK p55 subfamily member 7 measurement def: "Quantification of MAGUK p55 subfamily member 7 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802725 name: major prion protein measurement def: "Quantification of major prion protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802726 name: malectin measurement def: "Quantification of malectin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802727 name: malonyl-CoA decarboxylase, mitochondrial measurement def: "Quantification of malonyl-CoA decarboxylase, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802728 name: MAM domain-containing protein 2 measurement def: "Quantification of MAM domain-containing protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802729 name: mannosyl-oligosaccharide 1,2-alpha-mannosidase IA measurement def: "Quantification of mannosyl-oligosaccharide 1,2-alpha-mannosidase IA in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802730 name: marginal zone B- and B1-cell-specific protein measurement def: "Quantification of marginal zone B- and B1-cell-specific protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802731 name: matrix-remodeling-associated protein 8 measurement def: "Quantification of matrix-remodeling-associated protein 8 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802732 name: MAX-interacting protein 1 measurement def: "Quantification of MAX-interacting protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802733 name: melanocortin-2 receptor accessory protein 2 measurement def: "Quantification of melanocortin-2 receptor accessory protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802734 name: melanocortin-2 receptor accessory protein measurement def: "Quantification of melanocortin-2 receptor accessory protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802735 name: melanoma-associated antigen B10 measurement def: "Quantification of melanoma-associated antigen B10 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802736 name: membrane magnesium transporter 1 measurement def: "Quantification of membrane magnesium transporter 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802737 name: membrane protein FAM159B measurement def: "Quantification of membrane protein FAM159B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802738 name: membrane protein FAM174B measurement def: "Quantification of membrane protein FAM174B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802739 name: membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 measurement def: "Quantification of membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802740 name: membrane-associated progesterone receptor component 1 measurement def: "Quantification of membrane-associated progesterone receptor component 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802741 name: methionine-R-sulfoxide reductase B3 measurement def: "Quantification of methionine-R-sulfoxide reductase B3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802742 name: methylmalonyl-CoA epimerase, mitochondrial measurement def: "Quantification of methylmalonyl-CoA epimerase, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802743 name: MICOS complex subunit MIC26 measurement def: "Quantification of MICOS complex subunit MIC26 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802744 name: microfibril-associated glycoprotein 4 measurement def: "Quantification of microfibril-associated glycoprotein 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802745 name: microfibrillar-associated protein 1 measurement def: "Quantification of microfibrillar-associated protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802746 name: microfibrillar-associated protein 5 measurement def: "Quantification of microfibrillar-associated protein 5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802747 name: MIP18 family protein FAM96A measurement def: "Quantification of MIP18 family protein FAM96A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802748 name: mismatch repair endonuclease PMS2 measurement def: "Quantification of mismatch repair endonuclease PMS2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802749 name: mitochondrial fission regulator 1 measurement def: "Quantification of mitochondrial fission regulator 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802750 name: mitochondrial peptide methionine sulfoxide reductase measurement def: "Quantification of mitochondrial peptide methionine sulfoxide reductase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802751 name: mitofusin-1 measurement def: "Quantification of mitofusin-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802752 name: mitotic-spindle organizing protein 1 measurement def: "Quantification of mitotic-spindle organizing protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802753 name: MOB kinase activator 1A measurement def: "Quantification of MOB kinase activator 1A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802754 name: monoacylglycerol lipase ABHD12 measurement def: "Quantification of monoacylglycerol lipase ABHD12 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802755 name: motor neuron and pancreas homeobox protein 1 measurement def: "Quantification of motor neuron and pancreas homeobox protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802756 name: MRNA-capping enzyme measurement def: "Quantification of MRNA-capping enzyme in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802757 name: MRNA-decapping enzyme 1A measurement def: "Quantification of MRNA-decapping enzyme 1A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802758 name: mucin-4 measurement def: "Quantification of mucin-4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802759 name: mucosal addressin cell adhesion molecule 1 measurement def: "Quantification of mucosal addressin cell adhesion molecule 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802760 name: multidrug resistance-associated protein 6 measurement def: "Quantification of multidrug resistance-associated protein 6 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802761 name: multifunctional protein ADE2 measurement def: "Quantification of multifunctional protein ADE2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802762 name: multiple epidermal growth factor-like domains protein 10 measurement def: "Quantification of multiple epidermal growth factor-like domains protein 10 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802763 name: multiple PDZ domain protein measurement def: "Quantification of multiple PDZ domain protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802764 name: muscle, skeletal receptor tyrosine-protein kinase measurement def: "Quantification of muscle, skeletal receptor tyrosine-protein kinase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802765 name: myc box-dependent-interacting protein 1 measurement def: "Quantification of myc box-dependent-interacting protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802766 name: myc-associated zinc finger protein measurement def: "Quantification of myc-associated zinc finger protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802767 name: myelin regulatory factor measurement def: "Quantification of myelin regulatory factor in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802768 name: myeloid zinc finger 1 measurement def: "Quantification of myeloid zinc finger 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802769 name: myocardial zonula adherens protein measurement def: "Quantification of myocardial zonula adherens protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802770 name: myocyte-specific enhancer factor 2C measurement def: "Quantification of myocyte-specific enhancer factor 2C in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802771 name: myomesin-2 measurement def: "Quantification of myomesin-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802772 name: myosin-binding protein C, slow-type measurement def: "Quantification of myosin-binding protein C, slow-type in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802773 name: myotubularin-related protein 1 measurement def: "Quantification of myotubularin-related protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802774 name: n-acetylgalactosaminyltransferase 7 measurement def: "Quantification of n-acetylgalactosaminyltransferase 7 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802775 name: n-acetylglucosamine-1-phosphotransferase subunit gamma measurement def: "Quantification of n-acetylglucosamine-1-phosphotransferase subunit gamma in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802776 name: n-acetylglutamate synthase, mitochondrial measurement def: "Quantification of n-acetylglutamate synthase, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802777 name: n-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase, isoform C measurement def: "Quantification of n-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase, isoform C in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802778 name: n-lysine methyltransferase SMYD2 measurement def: "Quantification of n-lysine methyltransferase SMYD2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802779 name: immunoglobulin heavy constant gamma 4 measurement def: "Quantification of immunoglobulin heavy constant gamma 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802780 name: NACHT, LRR and PYD domains-containing protein 1 measurement def: "Quantification of NACHT, LRR and PYD domains-containing protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802781 name: NACHT, LRR and PYD domains-containing protein 10 measurement def: "Quantification of NACHT, LRR and PYD domains-containing protein 10 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802782 name: NACHT, LRR and PYD domains-containing protein 4 measurement def: "Quantification of NACHT, LRR and PYD domains-containing protein 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802783 name: NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial measurement def: "Quantification of NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802784 name: NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial measurement def: "Quantification of NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802785 name: NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial measurement def: "Quantification of NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802786 name: NADH-cytochrome b5 reductase 3 measurement def: "Quantification of NADH-cytochrome b5 reductase 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802787 name: natural cytotoxicity triggering receptor 3 ligand 1 measurement def: "Quantification of natural cytotoxicity triggering receptor 3 ligand 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802788 name: nectin-2 measurement def: "Quantification of nectin-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802789 name: nectin-3 measurement def: "Quantification of nectin-3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802790 name: nectin-4 measurement def: "Quantification of nectin-4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802791 name: netrin receptor UNC5A measurement def: "Quantification of netrin receptor UNC5A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802792 name: netrin receptor UNC5B measurement def: "Quantification of netrin receptor UNC5B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802793 name: neudesin measurement def: "Quantification of neudesin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802794 name: neugrin measurement def: "Quantification of neugrin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802795 name: neural proliferation differentiation and control protein 1 measurement def: "Quantification of neural proliferation differentiation and control protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802796 name: neuralized-like protein 4 measurement def: "Quantification of neuralized-like protein 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802797 name: neurexin-2-beta measurement def: "Quantification of neurexin-2-beta in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802798 name: neurexophilin-3 measurement def: "Quantification of neurexophilin-3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802799 name: neuritin measurement def: "Quantification of neuritin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802800 name: neuroepithelial cell-transforming gene 1 protein measurement def: "Quantification of neuroepithelial cell-transforming gene 1 protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802801 name: neurofilament heavy polypeptide measurement def: "Quantification of neurofilament heavy polypeptide in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802802 name: neuroligin-1 measurement def: "Quantification of neuroligin-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802803 name: neuromedin-B measurement def: "Quantification of neuromedin-B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802804 name: neuron-specific protein family member 1 measurement def: "Quantification of neuron-specific protein family member 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802805 name: neuron-specific vesicular protein calcyon measurement def: "Quantification of neuron-specific vesicular protein calcyon in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802806 name: neuropeptide S measurement def: "Quantification of neuropeptide S in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802807 name: neuropilin and tolloid-like protein 1 measurement def: "Quantification of neuropilin and tolloid-like protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802808 name: neuropilin and tolloid-like protein 2 measurement def: "Quantification of neuropilin and tolloid-like protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802809 name: neurotensin/neuromedin N measurement def: "Quantification of neurotensin/neuromedin N in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802810 name: NFU1 iron-sulfur cluster scaffold homolog, mitochondrial measurement def: "Quantification of NFU1 iron-sulfur cluster scaffold homolog, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802811 name: NGFI-A-binding protein 1 measurement def: "Quantification of NGFI-A-binding protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802812 name: NGFI-A-binding protein 2 measurement def: "Quantification of NGFI-A-binding protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802813 name: NKG2-A/NKG2-B type II integral membrane protein measurement def: "Quantification of NKG2-A/NKG2-B type II integral membrane protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802814 name: NKG2D ligand 1 measurement def: "Quantification of NKG2D ligand 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802815 name: NKG2D ligand 2 measurement def: "Quantification of NKG2D ligand 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802816 name: NKG2D ligand 3 measurement def: "Quantification of NKG2D ligand 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802817 name: non-homologous end-joining factor 1 measurement def: "Quantification of non-homologous end-joining factor 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802818 name: noncompact myelin-associated protein measurement def: "Quantification of noncompact myelin-associated protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802819 name: nuclear envelope phosphatase-regulatory subunit 1 measurement def: "Quantification of nuclear envelope phosphatase-regulatory subunit 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802820 name: nuclear nucleic acid-binding protein C1D measurement def: "Quantification of nuclear nucleic acid-binding protein C1D in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802821 name: nuclear pore membrane glycoprotein 210-like measurement def: "Quantification of nuclear pore membrane glycoprotein 210-like in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802822 name: nuclear protein MDM1 measurement def: "Quantification of nuclear protein MDM1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802823 name: nuclear receptor ROR-beta measurement def: "Quantification of nuclear receptor ROR-beta in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802824 name: nuclear receptor subfamily 4 group A member 1 measurement def: "Quantification of nuclear receptor subfamily 4 group A member 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802825 name: nuclear receptor subfamily 5 group A member 2 measurement def: "Quantification of nuclear receptor subfamily 5 group A member 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802826 name: nucleoside diphosphate-linked moiety X motif 8, mitochondrial measurement def: "Quantification of nucleoside diphosphate-linked moiety X motif 8, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802827 name: o-acetyl-ADP-ribose deacetylase MACROD1 measurement def: "Quantification of o-acetyl-ADP-ribose deacetylase MACROD1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802828 name: odorant-binding protein 2a measurement def: "Quantification of odorant-binding protein 2a in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802829 name: olfactomedin-like protein 3 measurement def: "Quantification of olfactomedin-like protein 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802830 name: oligophrenin-1 measurement def: "Quantification of oligophrenin-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802831 name: oligoribonuclease, mitochondrial measurement def: "Quantification of oligoribonuclease, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802832 name: orexigenic neuropeptide QRFP measurement def: "Quantification of orexigenic neuropeptide QRFP in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802833 name: origin recognition complex subunit 6 measurement def: "Quantification of origin recognition complex subunit 6 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802834 name: ornithine decarboxylase antizyme 1 measurement def: "Quantification of ornithine decarboxylase antizyme 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802835 name: ornithine decarboxylase measurement def: "Quantification of ornithine decarboxylase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802836 name: orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 measurement def: "Quantification of orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802837 name: osteoclast-associated immunoglobulin-like receptor measurement def: "Quantification of osteoclast-associated immunoglobulin-like receptor in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802838 name: osteocrin measurement def: "Quantification of osteocrin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802839 name: oxytocin-neurophysin 1 measurement def: "Quantification of oxytocin-neurophysin 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802840 name: P2X purinoceptor 6 measurement def: "Quantification of P2X purinoceptor 6 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802841 name: paired box protein Pax-4 measurement def: "Quantification of paired box protein Pax-4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802842 name: palmitoleoyl-protein carboxylesterase NOTUM measurement def: "Quantification of palmitoleoyl-protein carboxylesterase NOTUM in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802843 name: pantothenate kinase 3 measurement def: "Quantification of pantothenate kinase 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802844 name: papilin measurement def: "Quantification of papilin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802845 name: pappalysin-1 measurement def: "Quantification of pappalysin-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802846 name: pappalysin-2 measurement def: "Quantification of pappalysin-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802847 name: parathyroid hormone/parathyroid hormone-related peptide receptor measurement def: "Quantification of parathyroid hormone/parathyroid hormone-related peptide receptor in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802848 name: patched domain-containing protein 3 measurement def: "Quantification of patched domain-containing protein 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802849 name: PDZ and LIM domain protein 4 measurement def: "Quantification of PDZ and LIM domain protein 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802850 name: PDZ domain-containing protein 11 measurement def: "Quantification of PDZ domain-containing protein 11 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802851 name: peptidase inhibitor 15 measurement def: "Quantification of peptidase inhibitor 15 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802852 name: peptidyl-prolyl cis-trans isomerase FKBP2 measurement def: "Quantification of peptidyl-prolyl cis-trans isomerase FKBP2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802853 name: peregrin measurement def: "Quantification of peregrin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802854 name: peroxidasin-like protein measurement def: "Quantification of peroxidasin-like protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802855 name: peroxiredoxin-4 measurement def: "Quantification of peroxiredoxin-4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802856 name: peroxisomal carnitine O-octanoyltransferase measurement def: "Quantification of peroxisomal carnitine O-octanoyltransferase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802857 name: peroxisomal membrane protein PEX14 measurement def: "Quantification of peroxisomal membrane protein PEX14 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802858 name: peroxisome proliferator-activated receptor alpha measurement def: "Quantification of peroxisome proliferator-activated receptor alpha in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802859 name: PHD finger protein 3 measurement def: "Quantification of PHD finger protein 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802860 name: phosphatidate phosphatase PPAPDC1A measurement def: "Quantification of phosphatidate phosphatase PPAPDC1A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802861 name: phosphatidylinositol 5-phosphate 4-kinase type-2 alpha measurement def: "Quantification of phosphatidylinositol 5-phosphate 4-kinase type-2 alpha in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802862 name: phosphatidylinositol transfer protein alpha isoform measurement def: "Quantification of phosphatidylinositol transfer protein alpha isoform in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802863 name: phosphatidylinositol transfer protein beta isoform measurement def: "Quantification of phosphatidylinositol transfer protein beta isoform in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802864 name: phosphoglycerate kinase 2 measurement def: "Quantification of phosphoglycerate kinase 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802865 name: phospholipase B-like 1 measurement def: "Quantification of phospholipase B-like 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802866 name: phospholipase D3 measurement def: "Quantification of phospholipase D3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802867 name: phosphopantothenoylcysteine decarboxylase measurement def: "Quantification of phosphopantothenoylcysteine decarboxylase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802868 name: phosphoribosyl pyrophosphate synthase-associated protein 1 measurement def: "Quantification of phosphoribosyl pyrophosphate synthase-associated protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802869 name: pituitary adenylate cyclase-activating polypeptide measurement def: "Quantification of pituitary adenylate cyclase-activating polypeptide in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802870 name: piwi-like protein 1 measurement def: "Quantification of piwi-like protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802871 name: plastin-1 measurement def: "Quantification of plastin-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802872 name: platelet glycoprotein V measurement def: "Quantification of platelet glycoprotein V in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802873 name: pleckstrin homology domain-containing family A member 1 measurement def: "Quantification of pleckstrin homology domain-containing family A member 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802874 name: podocalyxin measurement def: "Quantification of podocalyxin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802875 name: poliovirus receptor measurement def: "Quantification of poliovirus receptor in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802876 name: poly [ADP-ribose] polymerase 1 measurement def: "Quantification of poly [ADP-ribose] polymerase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802877 name: poly [ADP-ribose] polymerase 11 measurement def: "Quantification of poly [ADP-ribose] polymerase 11 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802878 name: poly(A) polymerase gamma measurement def: "Quantification of poly(A) polymerase gamma in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802879 name: poly(U)-specific endoribonuclease measurement def: "Quantification of poly(U)-specific endoribonuclease in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802880 name: polyadenylate-binding protein-interacting protein 1 measurement def: "Quantification of polyadenylate-binding protein-interacting protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802881 name: polycystin-2 measurement def: "Quantification of polycystin-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802882 name: polypeptide N-acetylgalactosaminyltransferase 10 measurement def: "Quantification of polypeptide N-acetylgalactosaminyltransferase 10 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802883 name: polypeptide N-acetylgalactosaminyltransferase 11 measurement def: "Quantification of polypeptide N-acetylgalactosaminyltransferase 11 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802884 name: polypeptide N-acetylgalactosaminyltransferase 2 measurement def: "Quantification of polypeptide N-acetylgalactosaminyltransferase 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802885 name: polypeptide N-acetylgalactosaminyltransferase 3 measurement def: "Quantification of polypeptide N-acetylgalactosaminyltransferase 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802886 name: polyphosphoinositide phosphatase measurement def: "Quantification of polyphosphoinositide phosphatase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802887 name: porphobilinogen deaminase measurement def: "Quantification of porphobilinogen deaminase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802888 name: potassium voltage-gated channel subfamily A member 10 measurement def: "Quantification of potassium voltage-gated channel subfamily A member 10 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802889 name: potassium voltage-gated channel subfamily E member 3 measurement def: "Quantification of potassium voltage-gated channel subfamily E member 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802890 name: potassium voltage-gated channel subfamily F member 1 measurement def: "Quantification of potassium voltage-gated channel subfamily F member 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802891 name: potassium voltage-gated channel subfamily G member 4 measurement def: "Quantification of potassium voltage-gated channel subfamily G member 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802892 name: POU domain, class 2, transcription factor 1 measurement def: "Quantification of POU domain, class 2, transcription factor 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802893 name: PR domain zinc finger protein 4 measurement def: "Quantification of PR domain zinc finger protein 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802894 name: pre-mRNA-processing factor 6 measurement def: "Quantification of pre-mRNA-processing factor 6 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802895 name: pregnancy-specific beta-1-glycoprotein 11 measurement def: "Quantification of pregnancy-specific beta-1-glycoprotein 11 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802896 name: pregnancy-specific beta-1-glycoprotein 2 measurement def: "Quantification of pregnancy-specific beta-1-glycoprotein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802897 name: pregnancy-specific beta-1-glycoprotein 6 measurement def: "Quantification of pregnancy-specific beta-1-glycoprotein 6 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802898 name: pregnancy-specific beta-1-glycoprotein 8 measurement def: "Quantification of pregnancy-specific beta-1-glycoprotein 8 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802899 name: prestin measurement def: "Quantification of prestin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802900 name: pro-neuregulin-2, membrane-bound isoform measurement def: "Quantification of pro-neuregulin-2, membrane-bound isoform in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802901 name: probable ATP-dependent RNA helicase DHX58 measurement def: "Quantification of probable ATP-dependent RNA helicase DHX58 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802902 name: probable E3 ubiquitin-protein ligase HERC1 measurement def: "Quantification of probable E3 ubiquitin-protein ligase HERC1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802903 name: probable E3 ubiquitin-protein ligase HERC4 measurement def: "Quantification of probable E3 ubiquitin-protein ligase HERC4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802904 name: probable E3 ubiquitin-protein ligase MID2 measurement def: "Quantification of probable E3 ubiquitin-protein ligase MID2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802905 name: probable G-protein coupled receptor 101 measurement def: "Quantification of probable G-protein coupled receptor 101 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802906 name: probable inactive ribonuclease-like protein 13 measurement def: "Quantification of probable inactive ribonuclease-like protein 13 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802907 name: probable inactive serine protease 37 measurement def: "Quantification of probable inactive serine protease 37 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802908 name: probable palmitoyltransferase ZDHHC14 measurement def: "Quantification of probable palmitoyltransferase ZDHHC14 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802909 name: probable RNA-binding protein 19 measurement def: "Quantification of probable RNA-binding protein 19 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802910 name: procalcitonin measurement def: "Quantification of procalcitonin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802911 name: procollagen galactosyltransferase 2 measurement def: "Quantification of procollagen galactosyltransferase 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802912 name: procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 measurement def: "Quantification of procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802913 name: procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 measurement def: "Quantification of procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802914 name: profilin-2 measurement def: "Quantification of profilin-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802915 name: prolactin-releasing peptide measurement def: "Quantification of prolactin-releasing peptide in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802916 name: proline-rich protein 1 measurement def: "Quantification of proline-rich protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802917 name: prolyl 4-hydroxylase subunit alpha-1 measurement def: "Quantification of prolyl 4-hydroxylase subunit alpha-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802918 name: prolyl 4-hydroxylase subunit alpha-2 measurement def: "Quantification of prolyl 4-hydroxylase subunit alpha-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802919 name: prostate and testis expressed protein 1 measurement def: "Quantification of prostate and testis expressed protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802920 name: prostate-associated microseminoprotein measurement def: "Quantification of prostate-associated microseminoprotein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802921 name: proteasome assembly chaperone 3 measurement def: "Quantification of proteasome assembly chaperone 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802922 name: proteasome subunit alpha type-4 measurement def: "Quantification of proteasome subunit alpha type-4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802923 name: proteasome subunit beta type-5 measurement def: "Quantification of proteasome subunit beta type-5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802924 name: protein APCDD1 measurement def: "Quantification of protein APCDD1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802925 name: protein arginine N-methyltransferase 3 measurement def: "Quantification of protein arginine N-methyltransferase 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802926 name: protein argonaute-1 measurement def: "Quantification of protein argonaute-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802927 name: protein CASC4 measurement def: "Quantification of protein CASC4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802928 name: protein crumbs homolog 1 measurement def: "Quantification of protein crumbs homolog 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802929 name: protein CYR61 measurement def: "Quantification of protein CYR61 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802930 name: protein delta homolog 2 measurement def: "Quantification of protein delta homolog 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802931 name: protein DGCR6 measurement def: "Quantification of protein DGCR6 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802932 name: protein disulfide-isomerase-like protein of the testis measurement def: "Quantification of protein disulfide-isomerase-like protein of the testis in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802933 name: protein dpy-30 homolog measurement def: "Quantification of protein dpy-30 homolog in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802934 name: protein enabled homolog measurement def: "Quantification of protein enabled homolog in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802935 name: protein FAM134B measurement def: "Quantification of protein FAM134B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802936 name: protein FAM163B measurement def: "Quantification of protein FAM163B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802937 name: protein FAM172A measurement def: "Quantification of protein FAM172A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802938 name: protein FAM173A measurement def: "Quantification of protein FAM173A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802939 name: protein FAM19A2 measurement def: "Quantification of protein FAM19A2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802940 name: protein FAM19A3 measurement def: "Quantification of protein FAM19A3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802941 name: protein FAM19A4 measurement def: "Quantification of protein FAM19A4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802942 name: protein FAM19A5 measurement def: "Quantification of protein FAM19A5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802943 name: protein FAM209B measurement def: "Quantification of protein FAM209B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802944 name: protein FAM24B measurement def: "Quantification of protein FAM24B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802945 name: protein G6b measurement def: "Quantification of protein G6b in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802946 name: protein GPR107 measurement def: "Quantification of protein GPR107 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802947 name: protein HEG homolog 1 measurement def: "Quantification of protein HEG homolog 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802948 name: protein JTB measurement def: "Quantification of protein JTB in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802949 name: protein kinase C-binding protein NELL2 measurement def: "Quantification of protein kinase C-binding protein NELL2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802950 name: protein kish-A measurement def: "Quantification of protein kish-A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802951 name: protein kish-B measurement def: "Quantification of protein kish-B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802952 name: protein Largen measurement def: "Quantification of protein Largen in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802953 name: protein NDNF measurement def: "Quantification of protein NDNF in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802954 name: protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 measurement def: "Quantification of protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802955 name: protein p13 MTCP-1 measurement def: "Quantification of protein p13 MTCP-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802956 name: protein phosphatase 1 regulatory subunit 3B measurement def: "Quantification of protein phosphatase 1 regulatory subunit 3B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802957 name: protein phosphatase 1A measurement def: "Quantification of protein phosphatase 1A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802958 name: protein phosphatase 1L measurement def: "Quantification of protein phosphatase 1L in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802959 name: protein regulator of cytokinesis 1 measurement def: "Quantification of protein regulator of cytokinesis 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802960 name: protein ripply1 measurement def: "Quantification of protein ripply1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802961 name: protein S100-A2 measurement def: "Quantification of protein S100-A2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802962 name: protein SCO1 homolog, mitochondrial measurement def: "Quantification of protein SCO1 homolog, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802963 name: protein sprouty homolog 1 measurement def: "Quantification of protein sprouty homolog 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802964 name: protein transport protein Sec61 subunit beta measurement def: "Quantification of protein transport protein Sec61 subunit beta in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802965 name: protein transport protein Sec61 subunit gamma measurement def: "Quantification of protein transport protein Sec61 subunit gamma in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802966 name: protein turtle homolog A measurement def: "Quantification of protein turtle homolog A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802967 name: protein tyrosine phosphatase type IVA 2 measurement def: "Quantification of protein tyrosine phosphatase type IVA 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802968 name: protein unc-13 homolog A measurement def: "Quantification of protein unc-13 homolog A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802969 name: protein YIPF6 measurement def: "Quantification of protein YIPF6 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802970 name: proteoglycan 3 measurement def: "Quantification of proteoglycan 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802971 name: protocadherin alpha-C2 measurement def: "Quantification of protocadherin alpha-C2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802972 name: protocadherin beta-1 measurement def: "Quantification of protocadherin beta-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802973 name: protocadherin gamma-A8 measurement def: "Quantification of protocadherin gamma-A8 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802974 name: protocadherin-15 measurement def: "Quantification of protocadherin-15 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802975 name: protocadherin-9 measurement def: "Quantification of protocadherin-9 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802976 name: protrudin measurement def: "Quantification of protrudin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802977 name: pterin-4-alpha-carbinolamine dehydratase 2 measurement def: "Quantification of pterin-4-alpha-carbinolamine dehydratase 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802978 name: pterin-4-alpha-carbinolamine dehydratase measurement def: "Quantification of pterin-4-alpha-carbinolamine dehydratase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802979 name: putative apolipoprotein(a)-like protein 2 measurement def: "Quantification of putative apolipoprotein(a)-like protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802980 name: putative chondrosarcoma-associated gene 1 protein measurement def: "Quantification of putative chondrosarcoma-associated gene 1 protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802981 name: putative inactive group IIC secretory phospholipase A2 measurement def: "Quantification of putative inactive group IIC secretory phospholipase A2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802982 name: putative phospholipase B-like 2 measurement def: "Quantification of putative phospholipase B-like 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802983 name: putative pregnancy-specific beta-1-glycoprotein 7 measurement def: "Quantification of putative pregnancy-specific beta-1-glycoprotein 7 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802984 name: putative uncharacterized protein PQLC2L measurement def: "Quantification of putative uncharacterized protein PQLC2L in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802985 name: pyrin domain-containing protein 1 measurement def: "Quantification of pyrin domain-containing protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802986 name: pyruvate carboxylase, mitochondrial measurement def: "Quantification of pyruvate carboxylase, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802987 name: radiation-inducible immediate-early gene IEX-1 measurement def: "Quantification of radiation-inducible immediate-early gene IEX-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802988 name: ran-binding protein 3 measurement def: "Quantification of ran-binding protein 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802989 name: rap guanine nucleotide exchange factor 5 measurement def: "Quantification of rap guanine nucleotide exchange factor 5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802990 name: rap1 GTPase-GDP dissociation stimulator 1 measurement def: "Quantification of rap1 GTPase-GDP dissociation stimulator 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802991 name: ras-related protein Rab-22A measurement def: "Quantification of ras-related protein Rab-22A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802992 name: ras-related protein Rab-27A measurement def: "Quantification of ras-related protein Rab-27A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802993 name: ras-related protein Rab-27B measurement def: "Quantification of ras-related protein Rab-27B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802994 name: ras-related protein Rab-39B measurement def: "Quantification of ras-related protein Rab-39B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802995 name: ras-related protein Rab-7b measurement def: "Quantification of ras-related protein Rab-7b in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802996 name: ras-related protein Rap-2a measurement def: "Quantification of ras-related protein Rap-2a in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802997 name: receptor-interacting serine/threonine-protein kinase 2 measurement def: "Quantification of receptor-interacting serine/threonine-protein kinase 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802998 name: receptor-type tyrosine-protein phosphatase delta measurement def: "Quantification of receptor-type tyrosine-protein phosphatase delta in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0802999 name: receptor-type tyrosine-protein phosphatase eta measurement def: "Quantification of receptor-type tyrosine-protein phosphatase eta in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803000 name: receptor-type tyrosine-protein phosphatase R measurement def: "Quantification of receptor-type tyrosine-protein phosphatase R in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803001 name: receptor-type tyrosine-protein phosphatase S measurement def: "Quantification of receptor-type tyrosine-protein phosphatase S in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803002 name: receptor-type tyrosine-protein phosphatase U measurement def: "Quantification of receptor-type tyrosine-protein phosphatase U in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803003 name: recoverin measurement def: "Quantification of recoverin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803004 name: regenerating islet-derived protein 3-alpha measurement def: "Quantification of regenerating islet-derived protein 3-alpha in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803005 name: regulator of G-protein signaling 10 measurement def: "Quantification of regulator of G-protein signaling 10 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803006 name: regulator of G-protein signaling 3 measurement def: "Quantification of regulator of G-protein signaling 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803007 name: regulator of microtubule dynamics protein 3 measurement def: "Quantification of regulator of microtubule dynamics protein 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803008 name: RELT-like protein 2 measurement def: "Quantification of RELT-like protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803009 name: retbindin measurement def: "Quantification of retbindin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803010 name: reticulocalbin-2 measurement def: "Quantification of reticulocalbin-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803011 name: retina-specific copper amine oxidase measurement def: "Quantification of retina-specific copper amine oxidase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803012 name: retinoblastoma-binding protein 5 measurement def: "Quantification of retinoblastoma-binding protein 5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803013 name: retinoblastoma-like protein 1 measurement def: "Quantification of retinoblastoma-like protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803014 name: retinoschisin measurement def: "Quantification of retinoschisin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803015 name: rho GTPase-activating protein 1 measurement def: "Quantification of rho GTPase-activating protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803016 name: rho GTPase-activating protein 36 measurement def: "Quantification of rho GTPase-activating protein 36 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803017 name: rho GTPase-activating protein 5 measurement def: "Quantification of rho GTPase-activating protein 5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803018 name: rho guanine nucleotide exchange factor 2 measurement def: "Quantification of rho guanine nucleotide exchange factor 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803019 name: rho guanine nucleotide exchange factor 25 measurement def: "Quantification of rho guanine nucleotide exchange factor 25 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803020 name: rho guanine nucleotide exchange factor 7 measurement def: "Quantification of rho guanine nucleotide exchange factor 7 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803021 name: rho-associated protein kinase 2 measurement def: "Quantification of rho-associated protein kinase 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803022 name: rho-related GTP-binding protein Rho6 measurement def: "Quantification of rho-related GTP-binding protein Rho6 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803023 name: rho-related GTP-binding protein RhoD measurement def: "Quantification of rho-related GTP-binding protein RhoD in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803024 name: rho-related GTP-binding protein RhoG measurement def: "Quantification of rho-related GTP-binding protein RhoG in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803025 name: ribosome biogenesis protein TSR3 homolog measurement def: "Quantification of ribosome biogenesis protein TSR3 homolog in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803026 name: ribosome-binding protein 1 measurement def: "Quantification of ribosome-binding protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803027 name: ribosome-recycling factor, mitochondrial measurement def: "Quantification of ribosome-recycling factor, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803028 name: RING finger protein 122 measurement def: "Quantification of RING finger protein 122 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803029 name: RING finger protein 148 measurement def: "Quantification of RING finger protein 148 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803030 name: RING finger protein 150 measurement def: "Quantification of RING finger protein 150 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803031 name: RING finger protein 215 measurement def: "Quantification of RING finger protein 215 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803032 name: RING finger protein 219 measurement def: "Quantification of RING finger protein 219 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803033 name: RNA binding protein fox-1 homolog 2 measurement def: "Quantification of RNA binding protein fox-1 homolog 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803034 name: RNA demethylase ALKBH5 measurement def: "Quantification of RNA demethylase ALKBH5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803035 name: RNA polymerase II elongation factor ELL2 measurement def: "Quantification of RNA polymerase II elongation factor ELL2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803036 name: RNA-binding protein 28 measurement def: "Quantification of RNA-binding protein 28 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803037 name: RNA-binding protein 40 measurement def: "Quantification of RNA-binding protein 40 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803038 name: RNA-binding protein Nova-1 measurement def: "Quantification of RNA-binding protein Nova-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803039 name: roundabout homolog 1 measurement def: "Quantification of roundabout homolog 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803040 name: RUN and FYVE domain-containing protein 1 measurement def: "Quantification of RUN and FYVE domain-containing protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803041 name: s-methyl-5'-thioadenosine phosphorylase measurement def: "Quantification of s-methyl-5'-thioadenosine phosphorylase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803042 name: SAGA-associated factor 29 homolog measurement def: "Quantification of SAGA-associated factor 29 homolog in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803043 name: SAYSvFN domain-containing protein 1 measurement def: "Quantification of SAYSvFN domain-containing protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803044 name: scavenger receptor class A member 3 measurement def: "Quantification of scavenger receptor class A member 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803045 name: secretagogin measurement def: "Quantification of secretagogin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803046 name: secretoglobin family 1D member 2 measurement def: "Quantification of secretoglobin family 1D member 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803047 name: secretogranin-1 measurement def: "Quantification of secretogranin-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803048 name: secretogranin-2 measurement def: "Quantification of secretogranin-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803049 name: secretory carrier-associated membrane protein 5 measurement def: "Quantification of secretory carrier-associated membrane protein 5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803050 name: semaphorin-4C measurement def: "Quantification of semaphorin-4C in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803051 name: semaphorin-6C measurement def: "Quantification of semaphorin-6C in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803052 name: semaphorin-7A measurement def: "Quantification of semaphorin-7A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803053 name: sentrin-specific protease 7 measurement def: "Quantification of sentrin-specific protease 7 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803054 name: sepiapterin reductase measurement def: "Quantification of sepiapterin reductase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803055 name: serine palmitoyltransferase 1 measurement def: "Quantification of serine palmitoyltransferase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803056 name: serine palmitoyltransferase 2 measurement def: "Quantification of serine palmitoyltransferase 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803057 name: serine protease inhibitor Kazal-type 13 measurement def: "Quantification of serine protease inhibitor Kazal-type 13 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803058 name: serine protease inhibitor Kazal-type 5 measurement def: "Quantification of serine protease inhibitor Kazal-type 5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803059 name: serine protease inhibitor Kazal-type 8 measurement def: "Quantification of serine protease inhibitor Kazal-type 8 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803060 name: serine protease inhibitor Kazal-type 9 measurement def: "Quantification of serine protease inhibitor Kazal-type 9 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803061 name: serine--tRNA ligase, mitochondrial measurement def: "Quantification of serine--tRNA ligase, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803062 name: serine/arginine-rich splicing factor 6 measurement def: "Quantification of serine/arginine-rich splicing factor 6 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803063 name: serine/threonine-protein kinase BRSK2 measurement def: "Quantification of serine/threonine-protein kinase BRSK2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803064 name: serine/threonine-protein kinase DCLK3 measurement def: "Quantification of serine/threonine-protein kinase DCLK3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803065 name: serine/threonine-protein kinase ULK3 measurement def: "Quantification of serine/threonine-protein kinase ULK3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803066 name: serine/threonine-protein kinase VRK1 measurement def: "Quantification of serine/threonine-protein kinase VRK1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803067 name: serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform measurement def: "Quantification of serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803068 name: serpin I2 measurement def: "Quantification of serpin I2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803069 name: set1/Ash2 histone methyltransferase complex subunit ASH2 measurement def: "Quantification of set1/Ash2 histone methyltransferase complex subunit ASH2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803070 name: SHC-transforming protein 2 measurement def: "Quantification of SHC-transforming protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803071 name: SHC-transforming protein 4 measurement def: "Quantification of SHC-transforming protein 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803072 name: sia-alpha-2,3-Gal-beta-1,4-GlcNAc-R:alpha 2,8-sialyltransferase measurement def: "Quantification of sia-alpha-2,3-Gal-beta-1,4-GlcNAc-R:alpha 2,8-sialyltransferase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803073 name: sialate O-acetylesterase measurement def: "Quantification of sialate O-acetylesterase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803074 name: signal peptide, CUB and EGF-like domain-containing protein 1 measurement def: "Quantification of signal peptide, CUB and EGF-like domain-containing protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803075 name: signal-transducing adaptor protein 1 measurement def: "Quantification of signal-transducing adaptor protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803076 name: signaling lymphocytic activation molecule measurement def: "Quantification of signaling lymphocytic activation molecule in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803077 name: signaling threshold-regulating transmembrane adapter 1 measurement def: "Quantification of signaling threshold-regulating transmembrane adapter 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803078 name: single-pass membrane and coiled-coil domain-containing protein 2 measurement def: "Quantification of single-pass membrane and coiled-coil domain-containing protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803079 name: SLAM family member 8 measurement def: "Quantification of SLAM family member 8 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803080 name: SLIT and NTRK-like protein 4 measurement def: "Quantification of SLIT and NTRK-like protein 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803081 name: small conductance calcium-activated potassium channel protein 1 measurement def: "Quantification of small conductance calcium-activated potassium channel protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803082 name: small EDRK-rich factor 1 measurement def: "Quantification of small EDRK-rich factor 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803083 name: small integral membrane protein 10 measurement def: "Quantification of small integral membrane protein 10 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803084 name: SNARE-associated protein Snapin measurement def: "Quantification of SNARE-associated protein Snapin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803085 name: sodium channel subunit beta-2 measurement def: "Quantification of sodium channel subunit beta-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803086 name: sodium- and chloride-dependent glycine transporter 1 measurement def: "Quantification of sodium- and chloride-dependent glycine transporter 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803087 name: sodium-independent sulfate anion transporter measurement def: "Quantification of sodium-independent sulfate anion transporter in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803088 name: sodium/iodide cotransporter measurement def: "Quantification of sodium/iodide cotransporter in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803089 name: soluble calcium-activated nucleotidase 1 measurement def: "Quantification of soluble calcium-activated nucleotidase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803090 name: solute carrier family 41 member 2 measurement def: "Quantification of solute carrier family 41 member 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803091 name: solute carrier organic anion transporter family member 5A1 measurement def: "Quantification of solute carrier organic anion transporter family member 5A1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803092 name: sorting nexin-1 measurement def: "Quantification of sorting nexin-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803093 name: sorting nexin-17 measurement def: "Quantification of sorting nexin-17 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803094 name: sorting nexin-7 measurement def: "Quantification of sorting nexin-7 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803095 name: sorting nexin-8 measurement def: "Quantification of sorting nexin-8 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803096 name: spastin measurement def: "Quantification of spastin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803097 name: speckle-type POZ protein measurement def: "Quantification of speckle-type POZ protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803098 name: sperm-associated antigen 11B measurement def: "Quantification of sperm-associated antigen 11B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803099 name: spermatogenesis-associated protein 9 measurement def: "Quantification of spermatogenesis-associated protein 9 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803100 name: splicing factor 3B subunit 4 measurement def: "Quantification of splicing factor 3B subunit 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803101 name: splicing factor U2AF 65 kDa subunit measurement def: "Quantification of splicing factor U2AF 65 kDa subunit in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803102 name: sprouty-related, EVH1 domain-containing protein 1 measurement def: "Quantification of sprouty-related, EVH1 domain-containing protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803103 name: SPRY domain-containing SOCS box protein 1 measurement def: "Quantification of SPRY domain-containing SOCS box protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803104 name: stanniocalcin-2 measurement def: "Quantification of stanniocalcin-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803105 name: stromal cell-derived factor 2-like protein 1 measurement def: "Quantification of stromal cell-derived factor 2-like protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803106 name: submaxillary gland androgen-regulated protein 3B measurement def: "Quantification of submaxillary gland androgen-regulated protein 3B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803107 name: succinate dehydrogenase assembly factor 2, mitochondrial measurement def: "Quantification of succinate dehydrogenase assembly factor 2, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803108 name: sulfotransferase 4A1 measurement def: "Quantification of sulfotransferase 4A1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803109 name: suppressor of cytokine signaling 7 measurement def: "Quantification of suppressor of cytokine signaling 7 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803110 name: suprabasin measurement def: "Quantification of suprabasin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803111 name: Sushi domain-containing protein 1 measurement def: "Quantification of Sushi domain-containing protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803112 name: Sushi domain-containing protein 3 measurement def: "Quantification of Sushi domain-containing protein 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803113 name: Sushi, von Willebrand factor type A, EGF and pentraxin domain-containing protein 1 measurement def: "Quantification of Sushi, von Willebrand factor type A, EGF and pentraxin domain-containing protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803114 name: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1-related measurement def: "Quantification of SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1-related in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803115 name: synaptic vesicle glycoprotein 2A measurement def: "Quantification of synaptic vesicle glycoprotein 2A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803116 name: synaptosomal-associated protein 29 measurement def: "Quantification of synaptosomal-associated protein 29 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803117 name: synaptotagmin-17 measurement def: "Quantification of synaptotagmin-17 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803118 name: synaptotagmin-2 measurement def: "Quantification of synaptotagmin-2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803119 name: synaptotagmin-3 measurement def: "Quantification of synaptotagmin-3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803120 name: synaptotagmin-5 measurement def: "Quantification of synaptotagmin-5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803121 name: synaptotagmin-7 measurement def: "Quantification of synaptotagmin-7 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803122 name: synaptotagmin-8 measurement def: "Quantification of synaptotagmin-8 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803123 name: synaptotagmin-like protein 1 measurement def: "Quantification of synaptotagmin-like protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803124 name: syntaxin-18 measurement def: "Quantification of syntaxin-18 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803125 name: syntaxin-1B measurement def: "Quantification of syntaxin-1B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803126 name: syntaxin-6 measurement def: "Quantification of syntaxin-6 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803127 name: t-box transcription factor TBX22 measurement def: "Quantification of t-box transcription factor TBX22 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803128 name: t-box transcription factor TBX3 measurement def: "Quantification of t-box transcription factor TBX3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803129 name: t-box transcription factor TBX5 measurement def: "Quantification of t-box transcription factor TBX5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803130 name: t-cell immunomodulatory protein measurement def: "Quantification of t-cell immunomodulatory protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803131 name: t-cell receptor-associated transmembrane adapter 1 measurement def: "Quantification of t-cell receptor-associated transmembrane adapter 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803132 name: t-cell surface antigen CD2 measurement def: "Quantification of t-cell surface antigen CD2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803133 name: t-cell surface glycoprotein CD3 gamma chain measurement def: "Quantification of t-cell surface glycoprotein CD3 gamma chain in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803134 name: t-cell surface glycoprotein CD5 measurement def: "Quantification of t-cell surface glycoprotein CD5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803135 name: t-cell surface glycoprotein CD8 beta chain measurement def: "Quantification of t-cell surface glycoprotein CD8 beta chain in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803136 name: tachykinin-3 measurement def: "Quantification of tachykinin-3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803137 name: tachykinin-4 measurement def: "Quantification of tachykinin-4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803138 name: tax1-binding protein 1 measurement def: "Quantification of tax1-binding protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803139 name: tenascin-R measurement def: "Quantification of tenascin-R in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803140 name: teneurin-3 measurement def: "Quantification of teneurin-3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803141 name: teneurin-4 measurement def: "Quantification of teneurin-4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803142 name: tenomodulin measurement def: "Quantification of tenomodulin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803143 name: testis-specific serine/threonine-protein kinase 2 measurement def: "Quantification of testis-specific serine/threonine-protein kinase 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803144 name: tetratricopeptide repeat protein 17 measurement def: "Quantification of tetratricopeptide repeat protein 17 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803145 name: tetratricopeptide repeat protein 9B measurement def: "Quantification of tetratricopeptide repeat protein 9B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803146 name: thiamin pyrophosphokinase 1 measurement def: "Quantification of thiamin pyrophosphokinase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803147 name: thioredoxin domain-containing protein 11 measurement def: "Quantification of thioredoxin domain-containing protein 11 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803148 name: thioredoxin measurement def: "Quantification of thioredoxin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803149 name: thioredoxin-interacting protein measurement def: "Quantification of thioredoxin-interacting protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803150 name: thrombospondin type-1 domain-containing protein 7A measurement def: "Quantification of thrombospondin type-1 domain-containing protein 7A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803151 name: thrombospondin-3 measurement def: "Quantification of thrombospondin-3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803152 name: thromboxane-A synthase measurement def: "Quantification of thromboxane-A synthase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803153 name: thyroid hormone receptor alpha measurement def: "Quantification of thyroid hormone receptor alpha in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803154 name: thyrotropin-releasing hormone measurement def: "Quantification of thyrotropin-releasing hormone in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803155 name: tight junction protein ZO-1 measurement def: "Quantification of tight junction protein ZO-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803156 name: tissue factor pathway inhibitor 2 measurement def: "Quantification of tissue factor pathway inhibitor 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803157 name: titin measurement def: "Quantification of titin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803158 name: TNF receptor-associated factor 4 measurement def: "Quantification of TNF receptor-associated factor 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803159 name: toll-like receptor 1 measurement def: "Quantification of toll-like receptor 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803160 name: torsin-1A-interacting protein 2 measurement def: "Quantification of torsin-1A-interacting protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803161 name: TOX high mobility group box family member 3 measurement def: "Quantification of TOX high mobility group box family member 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803162 name: TPA-induced transmembrane protein measurement def: "Quantification of TPA-induced transmembrane protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803163 name: transcription factor TFIIIB component B'' homolog measurement def: "Quantification of transcription factor TFIIIB component B'' homolog in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803164 name: transcription regulator protein BACH2 measurement def: "Quantification of transcription regulator protein BACH2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803165 name: transcriptional activator protein Pur-alpha measurement def: "Quantification of transcriptional activator protein Pur-alpha in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803166 name: transcriptional enhancer factor TEF-3 measurement def: "Quantification of transcriptional enhancer factor TEF-3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803167 name: transcriptional enhancer factor TEF-5 measurement def: "Quantification of transcriptional enhancer factor TEF-5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803168 name: transcriptional regulator Kaiso measurement def: "Quantification of transcriptional regulator Kaiso in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803169 name: transcriptional repressor CTCF measurement def: "Quantification of transcriptional repressor CTCF in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803170 name: transforming growth factor beta-1-induced transcript 1 protein measurement def: "Quantification of transforming growth factor beta-1-induced transcript 1 protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803171 name: transgelin measurement def: "Quantification of transgelin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803172 name: translin measurement def: "Quantification of translin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803173 name: translocon-associated protein subunit alpha measurement def: "Quantification of translocon-associated protein subunit alpha in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803174 name: transmembrane and coiled-coil domain-containing protein 5A measurement def: "Quantification of transmembrane and coiled-coil domain-containing protein 5A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803175 name: transmembrane and ubiquitin-like domain-containing protein 2 measurement def: "Quantification of transmembrane and ubiquitin-like domain-containing protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803176 name: transmembrane emp24 domain-containing protein 2 measurement def: "Quantification of transmembrane emp24 domain-containing protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803177 name: transmembrane emp24 domain-containing protein 4 measurement def: "Quantification of transmembrane emp24 domain-containing protein 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803178 name: transmembrane gamma-carboxyglutamic acid protein 4 measurement def: "Quantification of transmembrane gamma-carboxyglutamic acid protein 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803179 name: transmembrane protease serine 11A measurement def: "Quantification of transmembrane protease serine 11A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803180 name: transmembrane protease serine 11B measurement def: "Quantification of transmembrane protease serine 11B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803181 name: transmembrane protease serine 5 measurement def: "Quantification of transmembrane protease serine 5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803182 name: transmembrane protein 119 measurement def: "Quantification of transmembrane protein 119 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803183 name: transmembrane protein 234 measurement def: "Quantification of transmembrane protein 234 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803184 name: transmembrane protein 237 measurement def: "Quantification of transmembrane protein 237 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803185 name: transmembrane protein 40 measurement def: "Quantification of transmembrane protein 40 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803186 name: transmembrane protein 41B measurement def: "Quantification of transmembrane protein 41B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803187 name: transmembrane protein 52 measurement def: "Quantification of transmembrane protein 52 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803188 name: transmembrane protein 70, mitochondrial measurement def: "Quantification of transmembrane protein 70, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803189 name: transmembrane protein 8B measurement def: "Quantification of transmembrane protein 8B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803190 name: transmembrane protein 9 measurement def: "Quantification of transmembrane protein 9 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803191 name: transmembrane protein C16orf54 measurement def: "Quantification of transmembrane protein C16orf54 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803192 name: transmembrane protein PVRIG measurement def: "Quantification of transmembrane protein PVRIG in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803193 name: trem-like transcript 1 protein measurement def: "Quantification of trem-like transcript 1 protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803194 name: tRNA pseudouridine synthase A, mitochondrial measurement def: "Quantification of tRNA pseudouridine synthase A, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803195 name: tropomodulin-1 measurement def: "Quantification of tropomodulin-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803196 name: tropomyosin alpha-3 chain measurement def: "Quantification of tropomyosin alpha-3 chain in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803197 name: tubulointerstitial nephritis antigen-like measurement def: "Quantification of tubulointerstitial nephritis antigen-like in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803198 name: tuftelin measurement def: "Quantification of tuftelin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803199 name: tuftelin-interacting protein 11 measurement def: "Quantification of tuftelin-interacting protein 11 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803200 name: tumor necrosis factor alpha-induced protein 3 measurement def: "Quantification of tumor necrosis factor alpha-induced protein 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803201 name: tumor necrosis factor receptor superfamily member 1A measurement def: "Quantification of tumor necrosis factor receptor superfamily member 1A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803202 name: tumor protein 63 measurement def: "Quantification of tumor protein 63 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803203 name: tumor susceptibility gene 101 protein measurement def: "Quantification of tumor susceptibility gene 101 protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803204 name: twinfilin-1 measurement def: "Quantification of twinfilin-1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803205 name: twisted gastrulation protein homolog 1 measurement def: "Quantification of twisted gastrulation protein homolog 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803206 name: TYMS opposite strand protein measurement def: "Quantification of TYMS opposite strand protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803207 name: type III endosome membrane protein TEMP measurement def: "Quantification of type III endosome membrane protein TEMP in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803208 name: tyrosine-protein kinase RYK measurement def: "Quantification of tyrosine-protein kinase RYK in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803209 name: tyrosine-protein kinase transmembrane receptor ROR2 measurement def: "Quantification of tyrosine-protein kinase transmembrane receptor ROR2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803210 name: tyrosyl-DNA phosphodiesterase 1 measurement def: "Quantification of tyrosyl-DNA phosphodiesterase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803211 name: U6 snRNA phosphodiesterase measurement def: "Quantification of U6 snRNA phosphodiesterase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803212 name: ubiquinol-cytochrome-c reductase complex assembly factor 3 measurement def: "Quantification of ubiquinol-cytochrome-c reductase complex assembly factor 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803213 name: ubiquitin thioesterase OTUB2 measurement def: "Quantification of ubiquitin thioesterase OTUB2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803214 name: ubiquitin-conjugating enzyme E2 B measurement def: "Quantification of ubiquitin-conjugating enzyme E2 B in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803215 name: ubiquitin-conjugating enzyme E2 J1 measurement def: "Quantification of ubiquitin-conjugating enzyme E2 J1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803216 name: ubiquitin-conjugating enzyme E2 J2 measurement def: "Quantification of ubiquitin-conjugating enzyme E2 J2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803217 name: ubiquitin-conjugating enzyme E2 T measurement def: "Quantification of ubiquitin-conjugating enzyme E2 T in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803218 name: ubiquitin-like modifier-activating enzyme ATG7 measurement def: "Quantification of ubiquitin-like modifier-activating enzyme ATG7 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803219 name: UBX domain-containing protein 4 measurement def: "Quantification of UBX domain-containing protein 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803220 name: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 measurement def: "Quantification of UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803221 name: UDP-glucuronic acid decarboxylase 1 measurement def: "Quantification of UDP-glucuronic acid decarboxylase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803222 name: UDP-glucuronosyltransferase 1-8 measurement def: "Quantification of UDP-glucuronosyltransferase 1-8 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803223 name: uncharacterized protein C17orf67 measurement def: "Quantification of uncharacterized protein C17orf67 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803224 name: uncharacterized protein C17orf89 measurement def: "Quantification of uncharacterized protein C17orf89 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803225 name: uncharacterized protein C19orf18 measurement def: "Quantification of uncharacterized protein C19orf18 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803226 name: uncharacterized protein C1orf115 measurement def: "Quantification of uncharacterized protein C1orf115 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803227 name: uncharacterized protein C1orf185 measurement def: "Quantification of uncharacterized protein C1orf185 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803228 name: uncharacterized protein C1orf198 measurement def: "Quantification of uncharacterized protein C1orf198 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803229 name: uncharacterized protein C1orf226 measurement def: "Quantification of uncharacterized protein C1orf226 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803230 name: uncharacterized protein C22orf15 measurement def: "Quantification of uncharacterized protein C22orf15 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803231 name: uncharacterized protein C2orf82 measurement def: "Quantification of uncharacterized protein C2orf82 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803232 name: uncharacterized protein KIAA1467 measurement def: "Quantification of uncharacterized protein KIAA1467 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803233 name: unconventional myosin-VI measurement def: "Quantification of unconventional myosin-VI in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803234 name: UPF0258 protein KIAA1024 measurement def: "Quantification of UPF0258 protein KIAA1024 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803235 name: UPF0577 protein KIAA1324 measurement def: "Quantification of UPF0577 protein KIAA1324 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803236 name: UPF0729 protein C18orf32 measurement def: "Quantification of UPF0729 protein C18orf32 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803237 name: urea transporter 1 measurement def: "Quantification of urea transporter 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803238 name: uridine-cytidine kinase 2 measurement def: "Quantification of uridine-cytidine kinase 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803239 name: uromodulin-like 1 measurement def: "Quantification of uromodulin-like 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803240 name: uronyl 2-sulfotransferase measurement def: "Quantification of uronyl 2-sulfotransferase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803241 name: uroplakin-3b measurement def: "Quantification of uroplakin-3b in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803242 name: urotensin-2 receptor measurement def: "Quantification of urotensin-2 receptor in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803243 name: UTP--glucose-1-phosphate uridylyltransferase measurement def: "Quantification of UTP--glucose-1-phosphate uridylyltransferase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803244 name: UV excision repair protein RAD23 homolog A measurement def: "Quantification of UV excision repair protein RAD23 homolog A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803245 name: v-set and immunoglobulin domain-containing protein 1 measurement def: "Quantification of v-set and immunoglobulin domain-containing protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803246 name: v-set and transmembrane domain-containing protein 2-like protein measurement def: "Quantification of v-set and transmembrane domain-containing protein 2-like protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803247 name: v-set and transmembrane domain-containing protein 4 measurement def: "Quantification of v-set and transmembrane domain-containing protein 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803248 name: versican core protein measurement def: "Quantification of versican core protein in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803249 name: vesicle transport protein USE1 measurement def: "Quantification of vesicle transport protein USE1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803250 name: vesicle transport through interaction with t-SNAREs homolog 1A measurement def: "Quantification of vesicle transport through interaction with t-SNAREs homolog 1A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803251 name: vesicle-associated membrane protein 3 measurement def: "Quantification of vesicle-associated membrane protein 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803252 name: vesicle-associated membrane protein 4 measurement def: "Quantification of vesicle-associated membrane protein 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803253 name: vesicle-associated membrane protein 5 measurement def: "Quantification of vesicle-associated membrane protein 5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803254 name: vesicle-associated membrane protein 8 measurement def: "Quantification of vesicle-associated membrane protein 8 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803255 name: vesicle-associated membrane protein-associated protein B/C measurement def: "Quantification of vesicle-associated membrane protein-associated protein B/C in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803256 name: vesicle-trafficking protein SEC22a measurement def: "Quantification of vesicle-trafficking protein SEC22a in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803257 name: vinculin measurement def: "Quantification of vinculin in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803258 name: vinexin b measurement def: "Quantification of vinexin b in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803259 name: von Willebrand factor C domain-containing protein 2-like measurement def: "Quantification of von Willebrand factor C domain-containing protein 2-like in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803260 name: WAP four-disulfide core domain protein 10A measurement def: "Quantification of WAP four-disulfide core domain protein 10A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803261 name: WAP four-disulfide core domain protein 12 measurement def: "Quantification of WAP four-disulfide core domain protein 12 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803262 name: WAP four-disulfide core domain protein 13 measurement def: "Quantification of WAP four-disulfide core domain protein 13 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803263 name: WAP four-disulfide core domain protein 2 measurement def: "Quantification of WAP four-disulfide core domain protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803264 name: WAP four-disulfide core domain protein 5 measurement def: "Quantification of WAP four-disulfide core domain protein 5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803265 name: WW domain binding protein 1-like measurement def: "Quantification of WW domain binding protein 1-like in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803266 name: WW domain-binding protein 1 measurement def: "Quantification of WW domain-binding protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803267 name: xanthine dehydrogenase/oxidase measurement def: "Quantification of xanthine dehydrogenase/oxidase in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803268 name: YTH domain-containing protein 1 measurement def: "Quantification of YTH domain-containing protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803269 name: zinc finger protein measurement def: "Quantification of zinc finger protein in a sample." [] is_a: EFO:0004747 ! protein measurement [Term] id: EFO:0803270 name: zinc finger protein 10 measurement def: "Quantification of zinc finger protein 10 in a sample." [] xref: PMID:29875488 is_a: EFO:0803269 ! zinc finger protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803271 name: zinc finger protein 134 measurement def: "Quantification of zinc finger protein 134 in a sample." [] xref: PMID:29875488 is_a: EFO:0803269 ! zinc finger protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803272 name: zinc finger protein 174 measurement def: "Quantification of zinc finger protein 174 in a sample." [] xref: PMID:29875488 is_a: EFO:0803269 ! zinc finger protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803273 name: zinc finger protein 180 measurement def: "Quantification of zinc finger protein 180 in a sample." [] xref: PMID:29875488 is_a: EFO:0803269 ! zinc finger protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803274 name: zinc finger protein 23 measurement def: "Quantification of zinc finger protein 23 in a sample." [] xref: PMID:29875488 is_a: EFO:0803269 ! zinc finger protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803275 name: zinc finger protein 264 measurement def: "Quantification of zinc finger protein 264 in a sample." [] xref: PMID:29875488 is_a: EFO:0803269 ! zinc finger protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803276 name: zinc finger protein 329 measurement def: "Quantification of zinc finger protein 329 in a sample." [] xref: PMID:29875488 is_a: EFO:0803269 ! zinc finger protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803277 name: zinc finger protein 334 measurement def: "Quantification of zinc finger protein 334 in a sample." [] xref: PMID:29875488 is_a: EFO:0803269 ! zinc finger protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803278 name: zinc finger protein 358 measurement def: "Quantification of zinc finger protein 358 in a sample." [] xref: PMID:29875488 is_a: EFO:0803269 ! zinc finger protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803279 name: zinc finger protein 382 measurement def: "Quantification of zinc finger protein 382 in a sample." [] xref: PMID:29875488 is_a: EFO:0803269 ! zinc finger protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803280 name: zinc finger protein 410 measurement def: "Quantification of zinc finger protein 410 in a sample." [] xref: PMID:29875488 is_a: EFO:0803269 ! zinc finger protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803281 name: zinc finger protein 415 measurement def: "Quantification of zinc finger protein 415 in a sample." [] xref: PMID:29875488 is_a: EFO:0803269 ! zinc finger protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803282 name: zinc finger protein 566 measurement def: "Quantification of zinc finger protein 566 in a sample." [] xref: PMID:29875488 is_a: EFO:0803269 ! zinc finger protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803283 name: zinc finger protein 75D measurement def: "Quantification of zinc finger protein 75D in a sample." [] xref: PMID:29875488 is_a: EFO:0803269 ! zinc finger protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803284 name: zinc finger protein 774 measurement def: "Quantification of zinc finger protein 774 in a sample." [] xref: PMID:29875488 is_a: EFO:0803269 ! zinc finger protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803285 name: zinc finger protein 843 measurement def: "Quantification of zinc finger protein 843 in a sample." [] xref: PMID:29875488 is_a: EFO:0803269 ! zinc finger protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803286 name: zinc finger protein SNAI2 measurement def: "Quantification of zinc finger protein SNAI2 in a sample." [] xref: PMID:29875488 is_a: EFO:0803269 ! zinc finger protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803287 name: zinc transporter 3 measurement def: "Quantification of zinc transporter 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803288 name: zinc transporter 5 measurement def: "Quantification of zinc transporter 5 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803289 name: zinc/RING finger protein 4 measurement def: "Quantification of zinc/RING finger protein 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0803269 ! zinc finger protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803290 name: zona pellucida-like domain-containing protein 1 measurement def: "Quantification of zona pellucida-like domain-containing protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803291 name: growth arrest and DNA damage-inducible proteins-interacting protein 1 measurement def: "Quantification of growth arrest and DNA damage-inducible proteins-interacting protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803292 name: NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial measurement def: "Quantification of NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803293 name: complement C1q and tumor necrosis factor-related protein 9A measurement def: "Quantification of complement C1q and tumor necrosis factor-related protein 9A in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803294 name: discoidin, CUB and LCCL domain-containing protein 2 measurement def: "Quantification of discoidin, CUB and LCCL domain-containing protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803295 name: PH and SEC7 domain-containing protein 2 measurement def: "Quantification of PH and SEC7 domain-containing protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803296 name: mono [ADP-ribose] polymerase PARP16 measurement def: "Quantification of mono [ADP-ribose] polymerase PARP16 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803297 name: CUB and Sushi domain-containing protein 1 measurement def: "Quantification of CUB and Sushi domain-containing protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803298 name: ribosyldihydronicotinamide dehydrogenase [quinone] measurement def: "Quantification of ribosyldihydronicotinamide dehydrogenase [quinone] in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803299 name: zinc fingers and homeoboxes protein 3 measurement def: "Quantification of zinc fingers and homeoboxes protein 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803300 name: nutritionally-regulated adipose and cardiac enriched protein homolog measurement def: "Quantification of nutritionally-regulated adipose and cardiac enriched protein homolog in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803301 name: prostate and testis expressed protein 4 measurement def: "Quantification of prostate and testis expressed protein 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803302 name: PH and SEC7 domain-containing protein 1 measurement def: "Quantification of PH and SEC7 domain-containing protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803303 name: NAD(P)H dehydrogenase [quinone] 1 measurement def: "Quantification of NAD(P)H dehydrogenase [quinone] 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803304 name: sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) measurement def: "Quantification of sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803305 name: 2-phosphoxylose phosphatase 1 measurement def: "Quantification of 2-phosphoxylose phosphatase 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803306 name: arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 measurement def: "Quantification of arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803307 name: NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 4 measurement def: "Quantification of NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 4 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803308 name: v-set and immunoglobulin domain-containing protein 2 measurement def: "Quantification of v-set and immunoglobulin domain-containing protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803309 name: CUB and zona pellucida-like domain-containing protein 1 measurement def: "Quantification of CUB and zona pellucida-like domain-containing protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803310 name: carbonyl reductase [NADPH] 1 measurement def: "Quantification of carbonyl reductase [NADPH] 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803311 name: arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 measurement def: "Quantification of arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803312 name: arf-GAP domain and FG repeat-containing protein 1 measurement def: "Quantification of arf-GAP domain and FG repeat-containing protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803313 name: p53 and DNA damage-regulated protein 1 measurement def: "Quantification of p53 and DNA damage-regulated protein 1 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803314 name: CUB and Sushi domain-containing protein 2 measurement def: "Quantification of CUB and Sushi domain-containing protein 2 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803315 name: carbonyl reductase [NADPH] 3 measurement def: "Quantification of carbonyl reductase [NADPH] 3 in a sample." [] xref: PMID:29875488 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803316 name: abdominal adipose tissue measurement def: "Quantification of adipose tissue located around the abdomen." [] xref: PMID:35773277 is_a: EFO:0004764 ! adipose tissue measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0803317 name: gluteofemoral adipose tissue measurement def: "Quantification of adipose tissue located around the gluteofemoral region, measuring hip and thigh fat." [] xref: PMID:35773277 is_a: EFO:0004764 ! adipose tissue measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0803318 name: visceral:abdominal adipose tissue ratio measurement def: "Quantification of the ratio of visceral to abdominal adipose tissue." [] xref: PMID:35773277 is_a: EFO:0004764 ! adipose tissue measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0803319 name: visceral:gluteofemoral adipose tissue ratio measurement def: "Quantification of the ratio of visceral to gluteofemoral adipose tissue." [] xref: PMID:35773277 is_a: EFO:0004764 ! adipose tissue measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0803320 name: abdominal:gluteofemoral adipose tissue ratio measurement def: "Quantification of the ratio of abdominal to gluteofemoral adipose tissue." [] xref: PMID:35773277 is_a: EFO:0004764 ! adipose tissue measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0803321 name: premature ejaculation def: "A common disorder of sexual dysfunction in men characterized by persistent or recurrent emission of semen and seminal fluid sooner than desired, either before or shortly after penetration." [PMID:16953247] synonym: "rapid ejaculation" EXACT [] xref: HP:0012876 xref: MESH:D061686 xref: MONDO:0001780 xref: PMID:35021295 xref: snomedct:44001008 is_a: HP:0000078 ! Abnormality of the genital system property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-01-03T15:23:28Z xsd:dateTime property_value: http://purl.org/dc/terms/contributor "Arwa Ibrahim" xsd:string [Term] id: EFO:0803322 name: HLA allele carrier status def: "Quantification of the presence or absence of some haplotype or allele in the HLA region." [] xref: PMID:34976003 is_a: EFO:0007658 ! carrier status property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-01-04T10:10:39Z xsd:dateTime property_value: http://purl.org/dc/terms/contributor "Arwa Ibrahim" xsd:string [Term] id: EFO:0803323 name: S-warfarin measurement def: "Quantification of S-warfarin in a sample." [] xref: PMID:36210801 is_a: EFO:0801226 ! warfarin measurement relationship: IAO:0000136 CHEBI:87738 ! is_about (S)-warfarin property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803324 name: R-warfarin measurement def: "Quantification of R-warfarin in a sample." [] xref: PMID:36210801 is_a: EFO:0801226 ! warfarin measurement relationship: IAO:0000136 CHEBI:87737 ! is_about (R)-warfarin property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803325 name: RS-warfarin measurement def: "Quantification of RS-warfarin in a sample." [] xref: PMID:36210801 is_a: EFO:0801226 ! warfarin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803326 name: S-6-hydroxywarfarin measurement def: "Quantification of S-6-hydroxywarfarin in a sample." [] xref: PMID:36210801 is_a: EFO:0801226 ! warfarin measurement relationship: IAO:0000136 CHEBI:175127 ! is_about S-6-Hydroxywarfarin property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803327 name: R-6-hydroxywarfarin measurement def: "Quantification of R-6-hydroxywarfarin in a sample." [] xref: PMID:36210801 is_a: EFO:0801226 ! warfarin measurement relationship: IAO:0000136 CHEBI:175131 ! is_about R-6-Hydroxywarfarin property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803328 name: RS-6-hydroxywarfarin measurement def: "Quantification of RS-6-hydroxywarfarin in a sample." [] xref: PMID:36210801 is_a: EFO:0801226 ! warfarin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803329 name: S-7-hydroxywarfarin measurement def: "Quantification of S-7-hydroxywarfarin in a sample." [] xref: PMID:36210801 is_a: EFO:0801226 ! warfarin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803330 name: RS-10-hydroxywarfarin measurement def: "Quantification of RS-10-hydroxywarfarin in a sample." [] xref: PMID:36210801 is_a: EFO:0801226 ! warfarin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803331 name: S-warfarin to R-warfarin ratio measurement def: "Quantification of the ratio of S-warfarin to R-warfarin in a sample." [] xref: PMID:36210801 is_a: EFO:0801226 ! warfarin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803332 name: S-6-hydroxywarfarin to S-warfarin ratio measurement def: "Quantification of the ratio of S-6-hydroxywarfarin to S-warfarin in a sample." [] xref: PMID:36210801 is_a: EFO:0801226 ! warfarin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803333 name: R-6-hydroxywarfarin to R-warfarin ratio measurement def: "Quantification of the ratio of R-6-hydroxywarfarin to R-warfarin in a sample." [] xref: PMID:36210801 is_a: EFO:0801226 ! warfarin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803334 name: S-7-hydroxywarfarin to S-warfarin ratio measurement def: "Quantification of the ratio of S-7-hydroxywarfarin to S-warfarin in a sample." [] xref: PMID:36210801 is_a: EFO:0801226 ! warfarin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803335 name: RS-10-hydroxywarfarin to RS-warfarin ratio measurement def: "Quantification of the ratio of RS-10-hydroxywarfarin to RS-warfarin in a sample." [] xref: PMID:36210801 is_a: EFO:0801226 ! warfarin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803336 name: sphingomyelin 32:0 measurement def: "Quantification of the amount of sphingomyelin 32:0 in a sample." [] xref: PMID:36209301 is_a: EFO:0010118 ! sphingomyelin measurement relationship: IAO:0000136 CHEBI:72509 ! is_about sphingomyelin 32:0 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0803337 name: sphingomyelin 34:1 measurement def: "Quantification of the amount of sphingomyelin 34:1 in a sample." [] xref: PMID:36209301 is_a: EFO:0010118 ! sphingomyelin measurement relationship: IAO:0000136 CHEBI:72514 ! is_about sphingomyelin 34:1 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0803338 name: sphingomyelin 38:3 measurement def: "Quantification of the amount of sphingomyelin 38:3 in a sample." [] xref: PMID:36209301 is_a: EFO:0010118 ! sphingomyelin measurement relationship: IAO:0000136 CHEBI:72525 ! is_about sphingomyelin 38:3 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0803339 name: sphingomyelin 43:1/ 34:1 ratio measurement def: "Quantification of the ratio of sphingomyelin 43:1/ 34:1 in a sample." [] xref: PMID:36209301 is_a: EFO:0010118 ! sphingomyelin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0803340 name: cardiolipin IgA antibody measurement def: "Quantification of the amount of cardiolipin IgA antibody in a sample." [] xref: PMID:33441150 is_a: EFO:0004912 ! serum IgA measurement is_a: EFO:0005200 ! antiphospholipid antibody measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0803341 name: cardiolipin IgM antibody measurement def: "Quantification of the amount of cardiolipin IgM antibody in a sample." [] xref: PMID:33441150 is_a: EFO:0004993 ! serum IgM measurement is_a: EFO:0005200 ! antiphospholipid antibody measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0803342 name: ammonia measurement def: "Quantification of the amount of ammonia in a sample." [] xref: PMID:33441150 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0803343 name: amylase measurement def: "Quantification of the amount of amylase in a sample." [] xref: PMID:33441150 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0803344 name: anion gap measurement def: "Quantification of the anion gap which is the quantity difference between cations (positively charged ions) and anions (negatively charged ions) in serum, plasma, or urine. " [] xref: PMID:33441150 xref: Wikipedia:Anion_gap is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0803345 name: carbon dioxide measurement def: "Quantification of the amount of carbon dioxide gas present in a sample." [] xref: PMID:33441150 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0803346 name: carboxyhemoglobin measurement def: "Quantification of the amount of carboxyhemoglobin (a stable complex of carbon monoxide and hemoglobin) in a sample." [] xref: PMID:33441150 xref: Wikipedia:Carboxyhemoglobin is_a: EFO:0004509 ! hemoglobin measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0803347 name: nucleated cell count def: "Quantification of the amount of nucleated cells present in a sample." [] xref: PMID:33441150 is_a: EFO:0004503 ! hematological measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0803348 name: icteric index def: "Quantification of the amount of yellow color of a biological specimen, due to the presence of bile pigments." [] synonym: "I-index" EXACT [] synonym: "icterus index" EXACT [] xref: PMID:33441150 xref: PMID:33927553 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0803349 name: lipemic index def: "Quantification of lipemia in a sample. Lipemia is a turbidity of the sample caused by accumulation of lipoprotein particles. " [] xref: PMID:24627715 xref: PMID:33441150 is_a: EFO:0005105 ! lipid or lipoprotein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0803350 name: intact parathyroid hormone measurement def: "Quantification of the amount of intact parathyroid hormone in a sample. Intact parathyroid hormone consists of 84 amino acids and is the biologically active form of parathyroid hormone that is secreted into the circulation in response to low calcium levels." [] xref: PMID:31081903 xref: PMID:33441150 is_a: EFO:0004752 ! parathyroid hormone measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0803351 name: partial pressure of oxygen measurement def: "Quantification of the partial pressure of oxygen in a sample." [] synonym: "oxygen tension" EXACT [] synonym: "PaO2" EXACT [] xref: PMID:33441150 is_a: EFO:0001444 ! measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0803352 name: prealbumin measurement def: "Quantification of the amount of prealbumin present in a sample." [] synonym: "transthyretin " EXACT [] xref: PMID:33441150 is_a: EFO:0004747 ! protein measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0803353 name: anti-topoisomerase I antibody positivity def: "The presence of autoantibodies in the serum that react against topoisomerase I." [] xref: PMID:33441150 is_a: EFO:0004866 ! autoantibody measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0803354 name: tissue transglutaminase IgA antibody measurement def: "Quantification of the amount of tissue transglutaminase IgA antibody present in a sample." [] xref: PMID:33441150 is_a: EFO:0004912 ! serum IgA measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0803355 name: calcitriol measurement def: "Quantification of the amount of calcitriol hormone present in a sample. It is the active form of vitamin D." [] synonym: "1,25(OH)2-D3" EXACT [] synonym: "1,25-dihydroxycholecalciferol" EXACT [] xref: PMID:33441150 xref: Wikipedia:Calcitriol is_a: EFO:0004631 ! vitamin D measurement relationship: IAO:0000136 CHEBI:17823 ! is_about calcitriol property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0803356 name: 25-hydroxyvitamin D2 measurement def: "Quantification of the amount of 25-hydroxyvitamin D2 present in a sample. " [] synonym: "25-hydroxycalciferol" EXACT [] synonym: "25-hydroxyergocalciferol" EXACT [] xref: PMID:33441150 is_a: EFO:0004631 ! vitamin D measurement relationship: IAO:0000136 CHEBI:86319 ! is_about 25-hydroxyvitamin D2 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0803357 name: 25-hydroxyvitamin D3 measurement def: "Quantification of the amount of 25-hydroxyvitamin D3 present in a sample." [] synonym: "25-hydroxycholecalciferol" EXACT [] synonym: "calcidiol" EXACT [] synonym: "calcifediol" EXACT [] xref: PMID:33441150 is_a: EFO:0004631 ! vitamin D measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0803358 name: anti-SARS-CoV-2 IgG measurement def: "Quantification of the amount of SARS-CoV-2 IgG antibody in a sample." [] xref: PMID:36451823 is_a: EFO:0004565 ! serum IgG measurement property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-01-27T15:34:45Z xsd:dateTime [Term] id: EFO:0803359 name: SARS-CoV-2 neutralizing antibody measurement def: "Quantification of the amount of SARS-CoV-2 neutralizing antibodies in a sample." [] xref: PMID:36451823 is_a: EFO:0004556 ! antibody measurement property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-01-27T16:40:15Z xsd:dateTime [Term] id: EFO:0803360 name: SARS-CoV-2 antibody measurement comment: Quantification of the amount of SARS-CoV-2 antibodies in a sample. xref: PMID:36451823 is_a: EFO:0004556 ! antibody measurement property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-01-30T14:55:20Z xsd:dateTime [Term] id: EFO:0803361 name: hoarding disorder def: "A mental disorder characterized by persistent difficulties discarding or parting with possessions, often resulting in cluttered living spaces, distress, and impairment." [] synonym: "compulsive hoarding" EXACT [] xref: PMID:36379924 is_a: EFO:0000677 ! mental or behavioural disorder property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-01-30T15:29:55Z xsd:dateTime [Term] id: EFO:0803362 name: response to COVID-19 vaccine def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a COVID-19 vaccination. The COVID-19 vaccine is any vaccine that may prevent coronavirus disease-2019 (COVID-19) that is caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)." [] xref: PMID:36451823 is_a: EFO:0004645 ! response to vaccine property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0803363 name: wake after sleep onset def: "A measurement of the sum of durations of wakefulness episodes throughout the night, not including the wakefulness before sleep onset." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36463630"} synonym: "WASO" EXACT [] xref: NCIt:C156554 is_a: EFO:0004870 ! sleep measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0803364 name: sleep efficiency def: "A relative measurement of the time spent asleep to the total time spent in bed." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36463630"} xref: NCIt:C156553 is_a: EFO:0004870 ! sleep measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0803365 name: dietary approaches to stop hypertension diet def: "Is a diet designed to prevent and control high blood pressure. It promotes consumption of fruits, vegetables, whole grains, nuts, legumes, lean meat, fish, poultry and low-fat dairy products, and the inclusion of micronutrients and the reduction of sodium in the diet to about 1500 mg/day. It is limited in sugar-sweetened foods and beverages, red meat, and added fats." [] {http://www.ebi.ac.uk/efo/definition_citation="wikipedia:DASH_diet", http://www.ebi.ac.uk/efo/definition_citation="PMID:36297114"} synonym: "DASH diet" EXACT [] is_a: EFO:0002755 ! diet property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-02-10T13:49:25Z xsd:dateTime property_value: http://purl.org/dc/terms/contributor "Arwa Ibrahim" xsd:string [Term] id: EFO:0803366 name: response to nivolumab def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nivolumab stimulus. Nivolumab is an immunotherapy anticancer drug." [] {http://www.ebi.ac.uk/efo/definition_citation="wikipedia:Nivolumab", http://www.ebi.ac.uk/efo/definition_citation="PMID:36268685"} synonym: "response to Opdivo" EXACT [] is_a: GO:0097327 ! response to antineoplastic agent property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-02-10T16:03:44Z xsd:dateTime property_value: http://purl.org/dc/terms/contributor "Arwa Ibrahim" xsd:string [Term] id: EFO:0803367 name: antihyperlipidemic drug use measurement def: "Quantification of some aspect of the use of antihyperlipidemic drugs." [] synonym: "lipid-lowering drug use measurement" EXACT [] xref: PMID:36653479 is_a: EFO:0007010 ! drug use measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0803368 name: internet addiction disorder def: "An online-related compulsive behaviour which interferes with healthy living, resulting in significant impairment to various life domains over a prolonged period of time." [] synonym: "IAD" EXACT [] xref: PMID:36566681 is_a: EFO:0000677 ! mental or behavioural disorder property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2023-03-07T15:13:31Z xsd:dateTime [Term] id: EFO:0803369 name: vascular endothelial function measurement def: "Quantification of vascular endothelial function. Endothelial function tests assess vascular tone, permeability, anticoagulation, and angiogenesis. They include non-invasive measures like the reactive hyperemia index (RHI) detected by pulse amplitude tonometry (PAT) or invasive procedures like cardiac catherization. Endothelial dysfunction results in aging-induced pathogenesis of both microvascular and macrovascular diseases." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:33117828", http://www.ebi.ac.uk/efo/definition_citation="PMID:36620623"} is_a: EFO:0004298 ! cardiovascular measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Arwa Ibrahim" xsd:string [Term] id: EFO:0803370 name: photoreceptor cell layer thickness measurement def: "A measure of the thickness of photoreceptor cell receptor (PCR) segments of the retina. It can be non-invasively measured using optical coherence tomography (OCT)." [] xref: PMID:36848389 is_a: EFO:0600002 ! retinal layer thickness measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0803371 name: outer nuclear layer thickness measurement def: "A measure of the thickness of the outer nuclear layer of photoreceptor cell receptor segments of the retina." [] xref: PMID:36848389 is_a: EFO:0803370 ! photoreceptor cell layer thickness measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0803372 name: inner segment thickness measurement def: "A measure of the thickness of inner segment of photoreceptor cell receptor segments of the retina." [] xref: PMID:36848389 is_a: EFO:0803370 ! photoreceptor cell layer thickness measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0803373 name: outer segment thickness measurement def: "A measure of the thickness of outer segment of photoreceptor cell receptor segments of the retina." [] xref: PMID:36848389 is_a: EFO:0803370 ! photoreceptor cell layer thickness measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0803374 name: hemorheological measurement def: "A measurement of the flow characteristics of blood and its elements. Hemorheology indicators include whole blood viscosity, plasma viscosity, erythrocyte aggregation, erythrocyte rigidity, erythrocyte deformation, fibrinogen, and hematocrit." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36654975"} synonym: "blood rheology measurement" EXACT [] is_a: EFO:0004503 ! hematological measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0803375 name: erythrocyte aggregation def: "A measurement of the reversible formation of clumps of red blood cells under low-shear conditions or stasis." [] {http://www.ebi.ac.uk/efo/definition_citation="Wikipedia:Erythrocyte_aggregation", http://www.ebi.ac.uk/efo/definition_citation="PMID:36654975"} is_a: EFO:0803374 ! hemorheological measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0803376 name: erythrocyte deformability def: "A measurement of the ability of erythrocytes to change shape without rupturing, as they pass through narrow spaces, such as the microvasculature." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36654975", http://www.ebi.ac.uk/efo/definition_citation="Wikipedia:Erythrocyte_deformability"} is_a: EFO:0803374 ! hemorheological measurement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Santhi Ramachandran" xsd:string [Term] id: EFO:0803377 name: metachronous colorectal adenoma def: "A colorectal adenoma which develops independently more than six months after the removal of a previous colorectal adenoma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:35815403", http://www.ebi.ac.uk/efo/definition_citation="PMID:16630238"} is_a: EFO:0005406 ! colorectal adenoma property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0803378 name: visual masking mesurement def: "Quantification of visual masking, a phenomenon of visual perception which occurs when the visibility of one image, called a target, is reduced by the presence of another, called a mask. Timing arrangements include forward masking, backward masking, and simultaneous masking. Spatial arrangements include pattern masking and metacontrast. Visual masking deficits are potential schizophrenia endophenotypes." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36585402", http://www.ebi.ac.uk/efo/definition_citation="Wikipedia:Visual_masking"} is_a: EFO:0009700 ! visual perception measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0803379 name: anti-GAD65 autoimmune neurological syndromes def: "Autoimmune neurological syndromes (AINS) with autoantibodies against the 65kDa isoform of glutamic acid decarboxylase (GAD65). It can present with three clinical syndromes that can partially overlap: limbic encephalitis with seizures or epilepsy, cerebellitis with ataxia, and stiff-person-syndrome. Anti-GAD65 autoantibodies also characterize autoimmune diabetes mellitus (type 1A)." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:35348614"} synonym: "AINS with anti-GAD65 autoantibodies" EXACT [] synonym: "anti-GAD65 AINS" EXACT [] is_a: EFO:0005140 ! autoimmune disease property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0803380 name: cardiovascular age measurement def: "Quantification or estimate of cardiovascular age, e.g. as derived from electrocardiograms (ECGs) or biomarkers." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36587059"} synonym: "heart age measurement" EXACT [] is_a: EFO:0004298 ! cardiovascular measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0803381 name: fornix volume measurement def: "Quantification of the volume of the fornix." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36707530"} synonym: "brain fornix volume" EXACT [] synonym: "cerebral fornix volume" EXACT [] is_a: EFO:0005035 ! hippocampal volume property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0803382 name: perivascular space measurement def: "Quantification of the space between a blood vessel and the brain's pia mater. It may be measured by magnetic resonance imaging as an imaging marker of cerebral small vessel disease." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:37069360"} synonym: "PVS" EXACT [] synonym: "Virchow-Robin space" EXACT [] is_a: EFO:0004464 ! brain measurement property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:0803383 name: ()-2-methylthiazolidine measurement def: "Quantification of ()-2-methylthiazolidine in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0031682 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803384 name: (cis/trans)-aconitate measurement def: "Quantification of (cis/trans)-aconitate in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0000958 xref: KEGG COMPOUND:C02341 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803385 name: 15-acetoxyscirpene-34-diol 4-O-a-D-glucopyranoside measurement def: "Quantification of 15-acetoxyscirpene-34-diol 4-O-a-D-glucopyranoside in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0035590 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803386 name: 2-deoxyglucose measurement def: "Quantification of 2-deoxyglucose in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0062477 xref: KEGG COMPOUND:C00586 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803387 name: 2-methylmaleate measurement def: "Quantification of 2-methylmaleate in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0000634 xref: KEGG COMPOUND:C02226 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803388 name: 24-dimethyl-5-vinylthiazole measurement def: "Quantification of 24-dimethyl-5-vinylthiazole in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0037285 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803389 name: 3-keto fusidic acid measurement def: "Quantification of 3-keto fusidic acid in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0060745 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803390 name: 4-hydroxyanigorootin measurement def: "Quantification of 4-hydroxyanigorootin in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0039972 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803391 name: 4-hydroxybenzyl isothiocyanate 4-acetylrhamnoside measurement def: "Quantification of 4-hydroxybenzyl isothiocyanate 4-acetylrhamnoside in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0032802 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803392 name: 4,8,12,15,19-docosapentaenoic acid measurement def: "Quantification of 4,8,12,15,19-docosapentaenoic acid in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0039133 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803393 name: 5-(hydroxyphenyl)-gamma-valerolactone-O-sulphate measurement def: "Quantification of 5-(hydroxyphenyl)-gamma-valerolactone-O-sulphate in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0059993 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803394 name: 5-hydroxy-2-furoic acid measurement def: "Quantification of 5-hydroxy-2-furoic acid in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0059784 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803395 name: 5-hydroxytryptophan measurement def: "Quantification of 5-hydroxytryptophan in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0000472 xref: KEGG COMPOUND:C01017 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803396 name: 5-sulfo-13-benzenedicarboxylic acid measurement def: "Quantification of 5-sulfo-13-benzenedicarboxylic acid in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0032822 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803397 name: 5(6)-pentyl-14-dioxan-2-one measurement def: "Quantification of 5(6)-pentyl-14-dioxan-2-one in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0037146 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803398 name: 6-hydroxy-5-(4-sulfophenyl)azo-2-naphthalenesulfonic acid measurement def: "Quantification of 6-hydroxy-5-(4-sulfophenyl)azo-2-naphthalenesulfonic acid in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0034022 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803399 name: 6-hydroxypentadecanedioic acid measurement def: "Quantification of 6-hydroxypentadecanedioic acid in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0031885 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803400 name: acetyllysine measurement def: "Quantification of acetyllysine in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} synonym: "N-alpha-Acetyl-L-lysine" EXACT [] xref: HMDB:0000446 xref: KEGG COMPOUND:C12989 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803401 name: alverine measurement def: "Quantification of alverine in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0015554 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803402 name: anserine measurement def: "Quantification of anserine in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0000194 xref: KEGG COMPOUND:C01262 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803403 name: arachidic acid measurement def: "Quantification of arachidic acid in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0002212 xref: KEGG COMPOUND:C06425 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803404 name: bakers yeast extract measurement def: "Quantification of bakers yeast extract in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} synonym: "11H-Benzo[a]fluoren-11-ylacetic acid" EXACT [] xref: HMDB:0032173 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803405 name: bis(methylsulfonylmethyl) disulfide measurement def: "Quantification of bis(methylsulfonylmethyl) disulfide in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0041188 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803406 name: cadaverine measurement def: "Quantification of cadaverine in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0002322 xref: KEGG COMPOUND:C01672 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803407 name: cinnamic acid measurement def: "Quantification of cinnamic acid in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0000567 xref: KEGG COMPOUND:C10438 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803408 name: coumarate measurement def: "Quantification of coumarate in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} synonym: "4-hydroxycinnamic acid" EXACT [] xref: HMDB:0002035 xref: KEGG COMPOUND:C00811 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803409 name: cucurbitacin I 2-glucoside measurement def: "Quantification of cucurbitacin I 2-glucoside in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0035701 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803410 name: cytidine diphosphocholine measurement def: "Quantification of cytidine diphosphocholine in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0001413 xref: KEGG COMPOUND:C00307 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803411 name: deoxyadenosine monophosphate measurement def: "Quantification of deoxyadenosine monophosphate in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0000905 xref: KEGG COMPOUND:C00360 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803412 name: di-2-thienyl disulfide measurement def: "Quantification of di-2-thienyl disulfide in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0037173 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803413 name: diaminopimelate measurement def: "Quantification of diaminopimelate in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0001370 xref: KEGG COMPOUND:C00666 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803414 name: diethylenetriamine crosslinked with epichlorohydrin measurement def: "Quantification of diethylenetriamine crosslinked with epichlorohydrin in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} synonym: "1-(4-chlorophenyl)-2,3-dimethyl-4-dimethylamino-2-butanol" EXACT [] xref: HMDB:0032216 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803415 name: docosatetraenoic acid measurement def: "Quantification of docosatetraenoic acid in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0002226 xref: KEGG COMPOUND:C16527 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803416 name: ferulic acid measurement def: "Quantification of ferulic acid in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0000954 xref: KEGG COMPOUND:C01494 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803417 name: glucosamine 6-phosphate measurement def: "Quantification of glucosamine 6-phosphate in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0001254 xref: KEGG COMPOUND:C00352 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803418 name: glucosamine measurement def: "Quantification of glucosamine in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0001514 xref: KEGG COMPOUND:C00329 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803419 name: glycerol triundecanoate measurement def: "Quantification of glycerol triundecanoate in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0031089 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803420 name: heptadecanoic acid measurement def: "Quantification of heptadecanoic acid in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0002259 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803421 name: homogentisate measurement def: "Quantification of homogentisate in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0000130 xref: KEGG COMPOUND:C00544 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803422 name: homolinoleic acid measurement def: "Quantification of homolinoleic acid in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0060039 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803423 name: indole ethanol (tryptophanol) measurement def: "Quantification of indole ethanol (tryptophanol) in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0003447 xref: KEGG COMPOUND:C00955 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803424 name: indole-3-acetic-acid-O-glucuronide measurement def: "Quantification of indole-3-acetic-acid-O-glucuronide in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0060001 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803425 name: inosine diphosphate measurement def: "Quantification of inosine diphosphate in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0003335 xref: KEGG COMPOUND:C00104 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803426 name: lauroylcarnitine measurement def: "Quantification of lauroylcarnitine in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0002250 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803427 name: licoagrodin measurement def: "Quantification of licoagrodin in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0035372 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803428 name: lysope(20:1) measurement def: "Quantification of lysope(20:1) in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0011482 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803429 name: melleolide M measurement def: "Quantification of melleolide M in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0035068 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803430 name: metenamine measurement def: "Quantification of metenamine in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0029598 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803431 name: methyl jasmonate measurement def: "Quantification of methyl jasmonate in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0036583 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803432 name: mg(14:0/0:0/0:0) measurement def: "Quantification of mg(14:0/0:0/0:0) in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0011561 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803433 name: mg(18:1/0:0/0:0) measurement def: "Quantification of mg(18:1/0:0/0:0) in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0011567 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803434 name: myristoylglycine measurement def: "Quantification of myristoylglycine in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0013250 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803435 name: mytilin B measurement def: "Quantification of mytilin B in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0033442 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803436 name: N-acetyldehydroanonaine measurement def: "Quantification of N-acetyldehydroanonaine in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0041537 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803437 name: N-desmethyltoremifene measurement def: "Quantification of N-desmethyltoremifene in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0061051 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803438 name: N-hexadecanoylpyrrolidine measurement def: "Quantification of N-hexadecanoylpyrrolidine in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0032740 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803439 name: NaNa-dimethylhistamine measurement def: "Quantification of NaNa-dimethylhistamine in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0033438 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803440 name: NeNe dimethyllysine measurement def: "Quantification of NeNe dimethyllysine in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0013287 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803441 name: nicotinic acid mononucleotide measurement def: "Quantification of nicotinic acid mononucleotide in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0001132 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803442 name: 12-hydroxydodecanoic acid measurement def: "Quantification of 12-hydroxydodecanoic acid in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0002059 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803443 name: oxoadipic acid measurement def: "Quantification of oxoadipic acid in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0000225 xref: KEGG COMPOUND:C00322 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803444 name: p-coumaroyl vitisin A measurement def: "Quantification of p-coumaroyl vitisin A in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0029239 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803445 name: pentasine measurement def: "Quantification of pentasine in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0029803 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803446 name: permetin A measurement def: "Quantification of permetin A in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0030527 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803447 name: phaeophorbide b measurement def: "Quantification of phaeophorbide b in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0031149 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803448 name: phosphocholine measurement def: "Quantification of phosphocholine in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0001565 xref: KEGG COMPOUND:C00588 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803449 name: phosphoserine measurement def: "Quantification of phosphoserine in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0000272 xref: KEGG COMPOUND:C01005 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803450 name: polyethylene oxidized measurement def: "Quantification of polyethylene oxidized in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0032472 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803451 name: quinic acid measurement def: "Quantification of quinic acid in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0003072 xref: KEGG COMPOUND:C06746 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803452 name: quinidine barbiturate measurement def: "Quantification of quinidine barbiturate in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0015436 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803453 name: S-japonin measurement def: "Quantification of S-japonin in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0035802 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803454 name: santene measurement def: "Quantification of santene in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0038140 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803455 name: somniferine measurement def: "Quantification of somniferine in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0038585 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803456 name: sorbitan tristearate measurement def: "Quantification of sorbitan tristearate in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0029890 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803457 name: sulfinoalanine measurement def: "Quantification of sulfinoalanine in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} synonym: "3-sulfinoalanine" EXACT [] xref: HMDB:0000996 xref: KEGG COMPOUND:C00606 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803458 name: sulforaphane measurement def: "Quantification of sulforaphane in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0005792 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803459 name: tetrasaccharide (glycogen, stachyose) measurement def: "Quantification of tetrasaccharide (glycogen, stachyose) in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} synonym: "glycogen" EXACT [] xref: HMDB:0000757 xref: KEGG COMPOUND:C00182 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803460 name: thiopurine S-methyl ether measurement def: "Quantification of thiopurine S-methyl ether in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} synonym: "6-methylmercaptopurine" EXACT [] xref: HMDB:0060412 xref: KEGG COMPOUND:C03542 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803461 name: tsangane l 3-glucoside measurement def: "Quantification of tsangane l 3-glucoside in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0040824 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803462 name: tyrosol 4-sulfate measurement def: "Quantification of tyrosol 4-sulfate in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0041785 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803463 name: xanthurenic acid measurement def: "Quantification of xanthurenic acid in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0000881 xref: KEGG COMPOUND:C02470 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803464 name: oxoglutarate measurement def: "Quantification of oxoglutarate in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0000208 xref: KEGG COMPOUND:C00026 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803465 name: lormetazepam measurement def: "Quantification of lormetazepam in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0041919 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803466 name: retinoic acid measurement def: "Quantification of retinoic acid in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} synonym: "all-trans-retinoic acid" EXACT [] xref: HMDB:0001852 xref: KEGG COMPOUND:C00777 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803467 name: nicotine measurement def: "Quantification of nicotine in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: HMDB:0001934 xref: KEGG COMPOUND:C00745 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803468 name: (1R2R)-3-(12-dihydro-2-hydroxy-1-naphthalenyl)thio-2-oxopropanoic acid measurement def: "Quantification of (1R2R)-3-(12-dihydro-2-hydroxy-1-naphthalenyl)thio-2-oxopropanoic acid in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C14799 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803469 name: (3S)-3-hydroxy-L-enduracididine measurement def: "Quantification of (3S)-3-hydroxy-L-enduracididine in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C20603 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803470 name: (R)-23-dihydroxypropane-1-sulfonate measurement def: "Quantification of (R)-23-dihydroxypropane-1-sulfonate in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C19675 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803471 name: 1-amino-24-dibromoanthraquinone measurement def: "Quantification of 1-amino-24-dibromoanthraquinone in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C19211 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803472 name: 2-anthramine measurement def: "Quantification of 2-anthramine in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} synonym: "2-aminoanthracene" EXACT [] xref: KEGG COMPOUND:C14417 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803473 name: 2-chloro-3-oxoadipate measurement def: "Quantification of 2-chloro-3-oxoadipate in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C12836 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803474 name: 246-triaminotoluene measurement def: "Quantification of 246-triaminotoluene in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C16400 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803475 name: 3-(phosphoacetylamido)-L-alanine measurement def: "Quantification of 3-(phosphoacetylamido)-L-alanine in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C04111 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803476 name: 3-methylthiopropanamine measurement def: "Quantification of 3-methylthiopropanamine in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} synonym: "3-methylthiopropylamine" EXACT [] xref: KEGG COMPOUND:C03354 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803477 name: 3-vinylbacteriochlorophyllide a measurement def: "Quantification of 3-vinylbacteriochlorophyllide a in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} synonym: "3-deacetyl-3-vinylbacteriochlorophyllide A" EXACT [] xref: KEGG COMPOUND:C18152 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803478 name: 68-dimethyl-67-didehydroergoline measurement def: "Quantification of 68-dimethyl-67-didehydroergoline in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C20409 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803479 name: 7-methylpyrido34-cpsoralen measurement def: "Quantification of 7-methylpyrido34-cpsoralen in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C19458 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803480 name: A 77003 measurement def: "Quantification of A 77003 in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C15660 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803481 name: alpha-D-ribose 1-methylphosphonate 5-triphosphate measurement def: "Quantification of alpha-D-ribose 1-methylphosphonate 5-triphosphate in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C20422 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803482 name: alpha-ethyl-alphabeta-diphenyl-2-pyridineethanol measurement def: "Quantification of alpha-ethyl-alphabeta-diphenyl-2-pyridineethanol in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C15028 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803483 name: arg-vasopressin measurement def: "Quantification of arg-vasopressin in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} synonym: "8-l-arginine vasopressin" EXACT [] synonym: "argipressin" EXACT [] xref: KEGG COMPOUND:C13662 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803484 name: atractyloside I measurement def: "Quantification of atractyloside I in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C17866 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803485 name: azothoate measurement def: "Quantification of azothoate in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C19020 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803486 name: buthionine sulfoximine measurement def: "Quantification of buthionine sulfoximine in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} synonym: "s-butyl-dl-homocysteine-sr-sulfoximine" EXACT [] xref: KEGG COMPOUND:C04543 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803487 name: carpropamid measurement def: "Quantification of carpropamid in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C10932 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803488 name: chloromethiuron measurement def: "Quantification of chloromethiuron in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C19026 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803489 name: chlorophacinone measurement def: "Quantification of chlorophacinone in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C18514 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803490 name: correolide measurement def: "Quantification of correolide in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C13849 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803491 name: deacetylcolchicine measurement def: "Quantification of deacetylcolchicine in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} synonym: "trimethylcolchicinic acid methyl ether" EXACT [] xref: KEGG COMPOUND:C16712 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803492 name: dehydroshikimate measurement def: "Quantification of dehydroshikimate in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C02652 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803493 name: delphinine measurement def: "Quantification of delphinine in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C08677 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803494 name: demethylphosphinothricin measurement def: "Quantification of demethylphosphinothricin in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} synonym: "(2S)-2-amino-4-(hydroxyphosphinyl)butanoic acid" EXACT [] xref: KEGG COMPOUND:C17962 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803495 name: dibromobisphenol a measurement def: "Quantification of dibromobisphenol A in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} synonym: "33-dibromobisphenol A" EXACT [] xref: KEGG COMPOUND:C13622 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803496 name: dimethylphenylenediamine measurement def: "Quantification of dimethylphenylenediamine in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C04203 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803497 name: fenson measurement def: "Quantification of fenson in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C19030 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803498 name: fluocinolone measurement def: "Quantification of fluocinolone in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C07006 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803499 name: GW 6471 measurement def: "Quantification of GW 6471 in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C15620 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803500 name: hodgkinsine measurement def: "Quantification of hodgkinsine in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C09211 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803501 name: indol-3-ylacetyl-myo-inositol L-arabinoside measurement def: "Quantification of indol-3-ylacetyl-myo-inositol L-arabinoside in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C04611 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803502 name: istamycin C1 measurement def: "Quantification of istamycin C1 in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C17996 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803503 name: mercaptoacetyl-phe-leu measurement def: "Quantification of mercaptoacetyl-phe-leu in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C03292 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803504 name: minosaminomycin measurement def: "Quantification of minosaminomycin in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C17969 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803505 name: N-phosphotaurocyamine measurement def: "Quantification of N-phosphotaurocyamine in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} synonym: "taurocyamine phosphate, N(omega)-phosphotaurocyamine" EXACT [] xref: KEGG COMPOUND:C03149 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803506 name: perphenazine maleate measurement def: "Quantification of perphenazine maleate in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C13540 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803507 name: phenylmethanesulfonyl fluoride measurement def: "Quantification of phenylmethanesulfonyl fluoride in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} synonym: "benzenemethanesulfonyl fluoride" EXACT [] xref: KEGG COMPOUND:C06747 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803508 name: phorbol 12-tiglate 13-decanoate measurement def: "Quantification of phorbol 12-tiglate 13-decanoate in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C09157 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803509 name: potassium bicarbonate measurement def: "Quantification of potassium bicarbonate in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C18606 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803510 name: quinoclamin measurement def: "Quantification of quinoclamin in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C18584 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803511 name: quinoxyfen measurement def: "Quantification of quinoxyfen in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C18892 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803512 name: rhodojaponin I measurement def: "Quantification of rhodojaponin I in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} synonym: "grayanotoxane-56101416-pentol 23-epoxy- 614-diacetate (2beta3beta6beta14r)-" EXACT [] xref: KEGG COMPOUND:C19992 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803513 name: S-(4-bromophenyl)-mercaptopyruvate measurement def: "Quantification of S-(4-bromophenyl)-mercaptopyruvate in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C04264 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803514 name: scutianine F measurement def: "Quantification of scutianine F in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C10014 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803515 name: sodium nitroprusside dihydrate measurement def: "Quantification of sodium nitroprusside dihydrate in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C07695 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803516 name: stigmatellin Y measurement def: "Quantification of stigmatellin Y in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C12150 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803517 name: sulfadimethoxine sodium measurement def: "Quantification of sulfadimethoxine sodium in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C18386 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803518 name: sulfoacetate measurement def: "Quantification of sulfoacetate in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} synonym: "sulfoacetic acid" EXACT [] xref: KEGG COMPOUND:C14179 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803519 name: tiadinil measurement def: "Quantification of tiadinil in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C18550 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803520 name: tridihexethyl bromide measurement def: "Quantification of tridihexethyl bromide in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C11761 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803521 name: tromethamine measurement def: "Quantification of tromethamine in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} synonym: "2-amino-2-(hydroxymethyl)-13-propanediol" EXACT [] synonym: "trometamol" EXACT [] xref: KEGG COMPOUND:C07182 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803522 name: zinc lactate measurement def: "Quantification of zinc lactate in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: KEGG COMPOUND:C17389 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803523 name: 2-chloro-45-xylyl N-hydroxy-N-methylcarbamate measurement def: "Quantification of 2-chloro-45-xylyl N-hydroxy-N-methylcarbamate in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: T3DB:T3D0896 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803524 name: antimony(III) isopropoxide measurement def: "Quantification of antimony(III) isopropoxide in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: T3DB:T3D1861 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803525 name: ethyl thiocyanate measurement def: "Quantification of ethyl thiocyanate in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: T3DB:T3D1675 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803526 name: fenasulam measurement def: "Quantification of fenasulam in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: T3DB:T3D0966 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803527 name: methylarsonic acid monosodium salt measurement def: "Quantification of methylarsonic acid monosodium salt in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: T3DB:T3D0309 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803528 name: methylmercuric dicyanamide measurement def: "Quantification of methylmercuric dicyanamide in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: T3DB:T3D1350 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803529 name: phenylmercuric borate measurement def: "Quantification of phenylmercuric borate in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: T3DB:T3D1363 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803530 name: tribromodibenzofuran measurement def: "Quantification of tribromodibenzofuran in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: T3DB:T3D2384 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803531 name: uranyl acetate measurement def: "Quantification of uranyl acetate in blood plasma." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36482414"} xref: T3DB:T3D1177 is_a: EFO:0004725 ! metabolite measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803532 name: mitochondrial haplogroup carrier status def: "Quantification of the presence or absence of a mitochondrial haplogroup in an individual." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:37253732"} is_a: EFO:0007658 ! carrier status [Term] id: EFO:0803533 name: visuospatial function measurement def: "Quantification of visuospatial function, one aspect of cognitive ability, tested by eg. block design or construction praxis." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:37089073"} synonym: "perceptomotor measurement" EXACT [] is_a: EFO:0008354 ! cognitive function measurement [Term] id: EFO:0803534 name: cold-induced vasodilation def: "Cold-induced vasodilation (CIVD) is an acute increase in peripheral blood flow observed during cold exposure." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36890596"} synonym: "CIVD" EXACT [] synonym: "hunting reaction" EXACT [] is_a: GO:0009409 ! response to cold [Term] id: EFO:0803535 name: blood galactosylceramidase activity measurement def: "Quantification of the activity of galactosylceramidase, a lysosomal enzyme, in blood." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36370000"} xref: GO:0004336 is_a: EFO:0007937 ! blood protein measurement [Term] id: EFO:0803536 name: multiple sclerosis symptom measurement def: "Quantification of some aspect of multiple sclerosis symptoms, e.g. using the Expanded Disability Status Scale (EDSS)." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:36448302"} xref: MONDO:0005301 is_a: EFO:0005052 ! nervous system measurement [Term] id: EFO:0803537 name: susceptibility to influenza measurement def: "Quantification of an individual's susceptibility to influenza or the flu, an infectious respiratory disease caused by influenza viruses." [] {http://www.ebi.ac.uk/efo/definition_citation="PMID:37108169"} is_a: EFO:0006841 ! respiratory disease biomarker is_a: EFO:0006843 ! infectious disease biomarker is_a: EFO:0008422 ! susceptibility to infectious disease measurement relationship: IAO:0000136 EFO:0007328 ! is_about influenza [Term] id: EFO:0803538 name: sputum mucin measurement def: "Quantification of gel-forming glycoprotein mucin in sputum. Mucins are a family of high molecular weight, heavily glycosylated proteins (glycoconjugates) produced by epithelial tissues." [] {http://www.ebi.ac.uk/efo/definition_citation="wikipedia:Mucin", http://www.ebi.ac.uk/efo/definition_citation="PMID:37352370"} comment: Review for inclusion in the Ontology of Biological Attributes. is_a: EFO:0004555 ! glycoprotein measurement [Term] id: EFO:0803539 name: basophil measurement def: "Quantification of some aspect of basophils, such as function, quantity or composition." [] xref: PMID:37596262 is_a: EFO:0004503 ! hematological measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803540 name: eosinophil measurement def: "Quantification of some aspect of eosinophils, such as function, quantity or composition." [] xref: PMID:37596262 is_a: EFO:0004503 ! hematological measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803541 name: immature platelet measurement def: "Quantification of some aspect of immature platelets, such as function, quantity or composition." [] xref: PMID:37596262 is_a: EFO:0004503 ! hematological measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803542 name: immature granulocyte count def: "The number of immature granulocytes in a specified volume of blood." [] xref: PMID:37596262 is_a: EFO:0803543 ! immature granulocyte measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803543 name: immature granulocyte measurement def: "Quantification of some aspect of immature granulocytes, such as function, quantity or composition." [] xref: PMID:37596262 is_a: EFO:0007987 ! granulocyte count property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803544 name: immature platelet count def: "The number of immature platelets in a specified volume of blood." [] xref: PMID:37596262 is_a: EFO:0004309 ! platelet count property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803545 name: immature reticulocyte measurement def: "Quantification of some aspect of immature reticulocytes, such as function, quantity or composition." [] xref: PMID:37596262 is_a: EFO:0010700 ! reticulocyte measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803546 name: lymphocyte measurement def: "Quantification of some aspect of lymphocytes, such as function, quantity or composition." [] xref: PMID:37596262 is_a: EFO:0004503 ! hematological measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803547 name: monocyte measurement def: "Quantification of some aspect of monocytes, such as function, quantity or composition." [] xref: PMID:37596262 is_a: EFO:0004503 ! hematological measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:0803548 name: neutrophil measurement def: "Quantification of some aspect of neutrophils, such as function, quantity or composition." [] xref: PMID:37596262 is_a: EFO:0004503 ! hematological measurement property_value: IAO:0000117 "Elizabeth Lewis" xsd:string [Term] id: EFO:1000003 name: Zinc deficiency def: "A deficiency of the essential metal Zinc; an essential cofactor for many enzymes. Zinc deficiency is caused by a lack of zinc in the diet, loss of zinc after absorption, for example through loss through burns, inability to absorb Zinc, or increased loss through exercise. " [] xref: MedDRA:10048259 xref: SNOMEDCT:238124008 is_a: HP:0008277 ! Abnormal blood zinc concentration property_value: definition:citation https://en.wikipedia.org/wiki/Zinc_deficiency xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:1000012 name: Rienhoff syndrome def: "Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection." [EFO:1000012] subset: gard_rare {source="GARD:0012356"} synonym: "LDS5" EXACT [] synonym: "LDS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615582] synonym: "Loeys-Dietz syndrome 5" EXACT [] synonym: "Loeys-Dietz syndrome 5" RELATED [MONDO:Lexical, OMIM:615582] synonym: "Loeys-Dietz syndrome type 5" EXACT [MONDORULE:1, OMIM:615582] synonym: "Loeys-Dietz syndrome-5" EXACT [] synonym: "Rienhoff syndrome" EXACT [OMIM:615582] synonym: "Rienhoff syndrome" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0070236 {source="MONDO:equivalentTo"} xref: MONDO:0014262 xref: OMIM:615582 {source="EFO:1000012", source="MONDO:equivalentTo"} xref: UMLS:C3810012 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615582"} is_a: MONDO:0018954 {source="EFO:1000012", source="OMIM:615582"} ! Loeys-Dietz syndrome is_a: MONDO:0800091 {source="PMID:31633310"} ! overgrowth or tall stature syndrome with skeletal involvement property_value: exactMatch DOID:0070236 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810012 property_value: exactMatch https://omim.org/entry/615582 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12356/rienhoff-syndrome xsd:anyURI {source="GARD:0012356"} [Term] id: EFO:1000013 name: Prinzmetal's angina def: "a syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries)." [] def: "A syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries). For a portion of patients Prinzmetal's angina may be a manifestation of vasospastic disorder and is associated with migraine, Raynaud's phenomenon or aspirin-induced asthma." [Wikipedia:Prinzmetal%27s_angina] comment: Potentially caused by mutations in smooth muscle K+ channel.\nA syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries). comment: Potentially caused by mutations in smooth muscle K+ channel.nA syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries). {source="EFO:1000013"} synonym: "angina inversa" EXACT [DOID:0111151] synonym: "coronary artery spasm" EXACT [] synonym: "coronary artery spasms" EXACT [] synonym: "coronary vessel spasm" EXACT [] synonym: "coronary vessel spasms" EXACT [] synonym: "Prinzmetal angina" EXACT [] {comment="preferred label from MONDO"} synonym: "Prinzmetal's angina" EXACT [DOID:0111151] synonym: "Prinzmetal's variant angina" EXACT [DOID:0111151] synonym: "variant angina" EXACT [DOID:0111151] synonym: "variant angina pectoris" EXACT [DOID:0111151] xref: DOID:0111151 {source="MONDO:equivalentTo"} xref: ICD9:413.1 {source="MONDO:equivalentTo", source="EFO:1000013", source="MONDO:i2s"} xref: MedDRA:10011088 xref: MESH:D000788 {source="DOID:0111151", source="MONDO:equivalentTo"} xref: MONDO:0006021 xref: NCIt:C66915 xref: SCTID:87343002 {source="MONDO:equivalentTo", source="EFO:1000013"} xref: SNOMEDCT:23687008 xref: SNOMEDCT:87343002 xref: UMLS:C0002963 {source="MONDO:equivalentTo"} xref: UMLS:C2931193 {source="MONDO:equivalentTo"} xref: Wikipedia:Prinzmetal's_angina {source="EFO:1000013"} is_a: EFO:0004225 {source="DOID:0111151"} ! Coronary Vasospasm property_value: exactMatch DOID:0111151 property_value: exactMatch http://identifiers.org/mesh/D000788 property_value: exactMatch http://identifiers.org/snomedct/87343002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002963 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931193 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000014 name: acidosis def: "An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic" [] def: "An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic." [NCIT:P378] synonym: "acidosis" EXACT [MONDO:ambiguous] synonym: "acidosis disorder" EXACT [] {comment="preferred label from MONDO"} xref: HP:0001941 {source="MONDO:otherHierarchy"} xref: ICD9:276.2 {source="EFO:1000014", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10000486 xref: MeSH:D000138 xref: MONDO:0006022 xref: NCIt:C83504 xref: SCTID:51387008 {source="EFO:1000014", source="MONDO:equivalentTo"} xref: SNOMEDCT:51387008 xref: UMLS:C0001122 is_a: EFO:0010283 ! blood disease is_a: MONDO:0041261 ! disorder of acid-base balance relationship: EFO:0000784 UBERON:0000178 ! has_disease_location blood property_value: exactMatch http://identifiers.org/snomedct/51387008 property_value: excluded_subClassOf MONDO:0005570 {source="EFO:1000014"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:1000015 name: aldosterone-producing adenoma alt_id: MONDO:0006023 def: "An adenoma of the adrenal cortex that produces aldosterone. It may be associated with Conn syndrome. Clinical presentation includes hypertension, hypokalemia, and muscle weakness." [NCIT:C48451] subset: ordo_disease {source="Orphanet:231625"} synonym: "adrenocortical carcinoma with pure aldosterone hypersecretion" RELATED [Orphanet:231625] synonym: "aldosterone producing adrenal cortex adenoma" EXACT [NCIT:C48451] synonym: "aldosterone producing adrenal cortical adenoma" EXACT [NCIT:C48451] synonym: "aldosterone-producing adrenal cortex adenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "aldosterone-producing adrenal cortex adenoma" EXACT [NCIT:C48451] synonym: "aldosterone-producing adrenal cortex adenoma" EXACT [] {comment="preferred label from MONDO"} synonym: "APAC" EXACT ABBREVIATION [] synonym: "Pure aldosterone-producing adrenocortical carcinoma" EXACT [Orphanet:231625] synonym: "Pure aldosterone-secreting adrenocortical carcinoma" EXACT [Orphanet:231625] synonym: "Pure APAC" EXACT [Orphanet:231625] xref: EFO:1000015 {source="MONDO:equivalentTo"} xref: ICD10:C74.0 {source="ORDO:231625/ntbt", source="Orphanet:231625"} xref: ICD10:E26.0 {source="MONDO:subClassOf", source="EFO:1000015"} xref: MedDRA:10056950 {source="EFO:1000015"} xref: MESH:D018246 {source="EFO:1000015", source="MONDO:directSiblingOf"} xref: MONDO:0016505 xref: NCIT:C48451 {source="MONDO:equivalentTo"} xref: Orphanet:231625 {source="MONDO:equivalentTo"} xref: UMLS:C1706762 {source="NCIT:C48451", source="MONDO:equivalentTo"} xref: UMLS:CN226945 {source="MONDO:equivalentTo"} is_a: EFO:0003104 {source="NCIT:C48451"} ! adrenocortical adenoma is_a: MONDO:0001422 {source="MONDO:0016507-obsoleted"} ! primary aldosteronism property_value: closeMatch http://identifiers.org/meddra/10056950 property_value: closeMatch http://identifiers.org/meddra/10056950 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0009777 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1706762 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1706762 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226945 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226945 property_value: exactMatch NCIT:C48451 property_value: exactMatch NCIT:C48451 property_value: exactMatch Orphanet:231625 property_value: exactMatch Orphanet:231625 [Term] id: EFO:1000016 name: anaplastic lung carcinoma def: "A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation" [] synonym: "large cell lung carcinoma" EXACT [] xref: NCIt:C4450 xref: UMLS:C0345958 is_a: EFO:0003060 ! non-small cell lung carcinoma property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:1000017 name: autosomal recessive disease def: "An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop." [] def: "Autosomal recessive form of disease." [MONDO:patterns/autosomal_recessive] comment: https://www.nlm.nih.gov/medlineplus/ency/article/002052.htm synonym: "autosomal recessive disease" EXACT [] {comment="preferred label from MONDO"} synonym: "autosomal recessive disease or disorder" EXACT [MONDO:design_pattern] synonym: "autosomal recessive hereditary disease" EXACT [] synonym: "autosomal recessive hereditary disorder" EXACT [] synonym: "autosomal recessive inherited disease" EXACT [] synonym: "autosomal recessive inherited disorder" EXACT [] synonym: "disease or disorder, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] synonym: "disease, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] synonym: "recessive hereditary disorder (autosomal)" RELATED [] xref: DOID:0050737 {source="MONDO:equivalentTo"} xref: ICD9:758.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MONDO:0006025 xref: SCTID:85995004 {source="MONDO:equivalentTo"} xref: UMLS:C0265388 {source="MONDO:equivalentTo"} is_a: MONDO:0000429 {source="DOID:0050737"} ! autosomal genetic disease property_value: exactMatch DOID:0050737 property_value: exactMatch http://identifiers.org/snomedct/85995004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265388 property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:1000018 name: bladder disease def: "A disease involving the urinary bladder." [https://orcid.org/0000-0002-6601-2165] def: "A disorder affecting the urinary bladder" [] synonym: "bladder disease" EXACT [NCIT:C2900] synonym: "bladder disorder" EXACT [NCIT:C2900] synonym: "disease of urinary bladder" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of urinary bladder" EXACT [] synonym: "disorder of urinary bladder" EXACT [MONDO:patterns/location_top] synonym: "urinary bladder disease" EXACT [DOID:365, MONDO:patterns/location] synonym: "urinary bladder disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "urinary bladder disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "urinary bladder disorder" EXACT [NCIT:C2900] xref: DOID:365 {source="MONDO:equivalentTo", source="EFO:1000018"} xref: ICD10:N32 xref: ICD9:596.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:596.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:365"} xref: MESH:D001745 {source="MONDO:equivalentTo", source="DOID:365"} xref: MONDO:0006026 xref: NCIT:C2900 {source="MONDO:equivalentTo", source="EFO:1000018", source="DOID:365"} xref: NCIt:C2900 xref: SCTID:42643001 {source="MONDO:equivalentTo", source="DOID:365"} xref: UMLS:C0005686 {source="MONDO:equivalentTo", source="EFO:1000018", source="DOID:365", source="NCIT:C2900"} is_a: EFO:0009690 {source="DOID:365", source="MESH:D001745", source="MONDO:Redundant", source="NCIT:C2900"} ! urinary system disease relationship: EFO:0000784 UBERON:0001255 ! has_disease_location urinary bladder property_value: exactMatch DOID:365 property_value: exactMatch http://identifiers.org/mesh/D001745 property_value: exactMatch http://identifiers.org/snomedct/42643001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005686 property_value: exactMatch NCIT:C2900 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:1000019 name: breast synovial sarcoma def: "A synovial sarcoma (disease) that involves the breast." [MONDO:patterns/location] synonym: "breast synovial sarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "breast synovial sarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "breast synovial sarcoma (disease)" EXACT [MONDO:patterns/location] xref: EFO:1000019 {source="MONDO:equivalentTo"} xref: MONDO:0006027 is_a: EFO:0001376 {source="EFO:1000019", source="MONDO:Entailed", source="MONDO:Redundant"} ! synovial sarcoma is_a: MONDO:0002490 ! breast sarcoma [Term] id: EFO:1000020 name: cecum adenocarcinoma def: "A carcinoma that arises from glandular epithelial cells of the caecum" [https://orcid.org/0000-0002-6601-2165] def: "A carcinoma that arises from glandular epithelial cells of the caecum" [MONDO:DesignPattern] synonym: "adenocarcinoma of cecum" EXACT [DOID:3039, NCIT:C5543] synonym: "adenocarcinoma of the cecum" EXACT [NCIT:C5543] synonym: "caecum adenocarcinoma" EXACT [MONDO:patterns/location] synonym: "cecal adenocarcinoma" EXACT [DOID:3039, NCIT:C5543] synonym: "cecum adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "cecum adenocarcinoma" EXACT [NCIT:C5543] synonym: "cecum adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: DOID:3039 {source="EFO:1000020", source="MONDO:equivalentTo"} xref: EFO:1000020 {source="MONDO:equivalentTo"} xref: MONDO:0006028 xref: NCIT:C5543 {source="EFO:1000020", source="MONDO:equivalentTo", source="DOID:3039", source="exact-label-match"} xref: NCIT:C5543 {source="EFO:1000020", source="MONDO:equivalentTo", source="DOID:3039", source="MONDO:exact-label-match"} xref: SCTID:413446001 {source="EFO:1000020", source="MONDO:equivalentTo", source="DOID:3039"} xref: UMLS:C1332866 {source="EFO:1000020", source="MONDO:equivalentTo", source="NCIT:C5543", source="DOID:3039"} is_a: EFO:1000021 {source="DOID:3039", source="MONDO:Redundant", source="NCIT:C5543"} ! cecum carcinoma is_a: EFO:1001949 {source="MONDO:Redundant", source="NCIT:C5543"} ! colon adenocarcinoma property_value: exactMatch DOID:3039 property_value: exactMatch DOID:3039 property_value: exactMatch http://identifiers.org/snomedct/413446001 property_value: exactMatch http://identifiers.org/snomedct/413446001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332866 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332866 property_value: exactMatch NCIT:C5543 property_value: exactMatch NCIT:C5543 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/adenocarcinoma.yaml [Term] id: EFO:1000021 name: cecum carcinoma def: "A carcinoma that arises from epithelial cells of the caecum" [MONDO:DesignPattern] def: "A carcinoma that arises from epithelial cells of the caecum" [https://orcid.org/0000-0002-6601-2165] synonym: "caecum carcinoma" EXACT [DOID:1519, MONDO:patterns/location] synonym: "carcinoma of caecum" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of cecum" EXACT [DOID:1519, NCIT:C3491] synonym: "carcinoma of the cecum" EXACT [NCIT:C3491] synonym: "cecal cancer" BROAD [DOID:1519, NCIT:C3491] synonym: "cecal cancer" EXACT [DOID:1519, NCIT:C3491] synonym: "cecum cancer" BROAD [NCIT:C3491] synonym: "cecum cancer" EXACT [NCIT:C3491] synonym: "cecum carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "cecum carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "cecum carcinoma" EXACT [NCIT:C3491] xref: DOID:1519 {source="EFO:1000021", source="MONDO:equivalentTo"} xref: EFO:1000021 {source="MONDO:equivalentTo"} xref: MONDO:0006029 xref: NCIT:C3491 {source="EFO:1000021", source="MONDO:equivalentTo", source="DOID:1519"} xref: SCTID:255081007 {source="MONDO:equivalentTo", source="DOID:1519"} xref: UMLS:C0149640 {source="NCIT:C3491", source="EFO:1000021", source="MONDO:equivalentTo", source="DOID:1519"} is_a: EFO:1001950 {source="MONDO:Redundant", source="NCIT:C3491"} ! colon carcinoma is_a: MONDO:0002033 {source="DOID:1519", source="MONDO:Redundant", source="NCIT:C3491"} ! cecum cancer property_value: closeMatch http://identifiers.org/snomedct/154459000 property_value: closeMatch http://identifiers.org/snomedct/187756005 property_value: closeMatch http://identifiers.org/snomedct/269538009 property_value: exactMatch DOID:1519 property_value: exactMatch DOID:1519 property_value: exactMatch http://identifiers.org/snomedct/255081007 property_value: exactMatch http://identifiers.org/snomedct/255081007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149640 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149640 property_value: exactMatch NCIT:C3491 property_value: exactMatch NCIT:C3491 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:1000022 name: obsolete_cervical squamous cell carcinoma property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.65" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : EFO_1000172 label : cervicals quamous cell carcinoma" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_1000172 [Term] id: EFO:1000023 name: chronic cystitis def: "Recurrent infections of the urinary bladder" [] def: "Recurrent infections of the urinary bladder." [NCIT:P378] synonym: "chronic cystitis" EXACT [] {comment="preferred label from MONDO"} synonym: "cystitis, chronic" EXACT [MONDO:patterns/chronic] synonym: "Other chronic cystitis" EXACT [] xref: DOID:1680 {source="EFO:1000023", source="MONDO:equivalentTo"} xref: ICD9:595.2 {source="DOID:1680", source="MONDO:relatedTo", source="EFO:1000023", source="MONDO:i2s"} xref: ICD9CM:595.2 xref: MedDRA:10008852 xref: MONDO:0006030 xref: NCIT:C27008 {source="EFO:1000023", source="MONDO:equivalentTo"} xref: NCIt:C27008 xref: SCTID:33655002 {source="EFO:1000023", source="MONDO:equivalentTo"} xref: SNOMEDCT:33655002 xref: UMLS:C0221763 {source="EFO:1000023", source="MONDO:equivalentTo", source="NCIT:C27008"} is_a: EFO:0009714 ! chronic disease is_a: EFO:1000025 {source="DOID:1680", source="EFO:1000023", source="MONDO:Redundant", source="NCIT:C27008"} ! cystitis relationship: has_modifier HP:0011010 ! Chronic property_value: exactMatch DOID:1680 property_value: exactMatch http://identifiers.org/snomedct/33655002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221763 property_value: exactMatch NCIT:C27008 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:1000024 name: chronic rhinosinusitis def: "Chronic form of sinusitis." [MONDO:patterns/chronic] def: "Chronic rhinosinusitis is a heterogeneous disease characterized by local inflammation of the upper airways and sinuses which persists for at least 12 weeks" [] synonym: "chronic rhinosinusitis" EXACT [] {comment="preferred label from MONDO"} synonym: "chronic sinusitis" EXACT [] synonym: "sinusitis, chronic" EXACT [MONDO:design_pattern, MONDO:patterns/chronic] xref: ICD9:473.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:473.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MONDO:0006031 xref: NCIT:C35151 {source="MONDO:equivalentTo"} xref: PMID:25838086 {source="EFO:1000024"} xref: SCTID:40055000 {source="MONDO:equivalentTo"} xref: UMLS:C0149516 {source="MONDO:equivalentTo"} is_a: EFO:0007486 ! sinusitis is_a: EFO:0009714 ! chronic disease relationship: has_modifier HP:0011010 ! Chronic property_value: exactMatch http://identifiers.org/snomedct/40055000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149516 property_value: exactMatch NCIT:C35151 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:1000025 name: cystitis def: "An acute or chronic inflammatory process affecting the bladder." [] def: "Inflammation of the urinary bladder." [NCIT:P378] synonym: "bladder infection" EXACT [NCIT:C26738] synonym: "cystitis" EXACT [] {comment="preferred label from MONDO"} synonym: "inflammation of urinary bladder" EXACT [] synonym: "urinary bladder inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:1679 {source="EFO:1000025", source="MONDO:equivalentTo"} xref: ICD10:N30 xref: ICD9:595 {source="EFO:1000025", source="DOID:1679"} xref: ICD9:595.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:595.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1679"} xref: MedDRA:10011781 xref: MedDRA:10011802 xref: MESH:D003556 {source="EFO:1000025", source="MONDO:equivalentTo", source="DOID:1679"} xref: MeSH:D003556 xref: MONDO:0006032 xref: NCIT:C26738 {source="EFO:1000025", source="MONDO:equivalentTo", source="DOID:1679"} xref: NCIt:C26738 xref: SCTID:38822007 {source="EFO:1000025", source="MONDO:equivalentTo", source="DOID:1679"} xref: SNOMEDCT:38822007 xref: UMLS:C0010692 {source="EFO:1000025", source="MONDO:equivalentTo", source="DOID:1679", source="NCIT:C26738"} is_a: EFO:0009903 {source="MONDO:Redundant"} ! inflammatory disease is_a: EFO:1000018 {source="DOID:1679", source="EFO:1000025", source="MESH:D003556", source="MONDO:Redundant", source="NCIT:C26738/inferred"} ! bladder disease property_value: exactMatch DOID:1679 property_value: exactMatch http://identifiers.org/mesh/D003556 property_value: exactMatch http://identifiers.org/snomedct/38822007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010692 property_value: exactMatch NCIT:C26738 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:1000026 name: diffuse intrinsic pontine glioma def: "A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis." [NCIT:P378] subset: gard_rare {source="GARD:0013075"} subset: ordo_disease synonym: "diffuse intrinsic pontine glioma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "diffuse intrinsic pontine glioma" EXACT [] {comment="preferred label from MONDO"} synonym: "diffuse midline glioma" RELATED [https://orcid.org/0000-0001-8688-2523, PMID:30800634] synonym: "DIPG" EXACT ABBREVIATION [GARD:0013075, ONCOTREE:DIPG, Orphanet:497188] synonym: "infiltrative brainstem glioma" RELATED [GARD:0013075] xref: EFO:1000026 {source="MONDO:equivalentTo"} xref: GARD:0013075 {source="MONDO:equivalentTo"} xref: MESH:D000080443 {source="MONDO:equivalentTo"} xref: MONDO:0006033 xref: NCIT:C94764 {source="MONDO:equivalentTo", source="EFO:1000026"} xref: ONCOTREE:DIPG {source="MONDO:equivalentTo"} xref: Orphanet:497188 {source="MONDO:equivalentTo"} xref: UMLS:C2986658 {source="NCIT:C94764", source="MONDO:equivalentTo", source="EFO:1000026"} is_a: MONDO:0003869 {source="NCIT:C94764"} ! childhood brain stem glioma property_value: exactMatch http://identifiers.org/mesh/D000080443 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2986658 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2986658 property_value: exactMatch NCIT:C94764 property_value: exactMatch NCIT:C94764 property_value: exactMatch Orphanet:497188 property_value: excluded_subClassOf MONDO:0016680 {source="Orphanet:497188"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5432 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13075/diffuse-intrinsic-pontine-glioma xsd:anyURI {source="GARD:0013075"} [Term] id: EFO:1000027 name: ependymal neoplasm def: "A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma. (WHO)" [NCIT:C6770] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:301"} synonym: "ependymal neoplasm" EXACT [DOID:5074, NCIT:C6770] synonym: "ependymal tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "ependymal tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "ependymal tumor" EXACT [MONDO:0017605, NCIT:C6770] synonym: "ependymal tumors" EXACT [DOID:5074] synonym: "ependymal tumours" EXACT OMO:0003005 [] synonym: "ependymomal tumor" RELATED [ONCOTREE:EPMT] synonym: "ependymomal tumour" RELATED OMO:0003005 [] xref: EFO:1000027 {source="MONDO:equivalentTo"} xref: ICD10:C71.7 {source="Orphanet:301", source="ORDO:301/ntbt"} xref: MONDO:0003266 xref: NCIT:C6770 {source="MONDO:equivalentTo"} xref: ONCOTREE:EPMT {source="MONDO:equivalentTo"} xref: Orphanet:301 {source="MONDO:equivalentTo"} xref: UMLS:C1333407 {source="NCIT:C6770", source="MONDO:equivalentTo"} xref: UMLS:CN203416 {source="MONDO:equivalentTo"} is_a: EFO:0005543 {source="NCIT:C6770"} ! glioma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333407 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333407 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203416 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203416 property_value: exactMatch NCIT:C6770 property_value: exactMatch NCIT:C6770 property_value: exactMatch Orphanet:301 [Term] id: EFO:1000028 name: ependymoma def: "A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes. (WHO)" [NCIT:C3017] subset: ordo_histopathological_subtype {source="Orphanet:251636"} synonym: "benign ependymoma" EXACT [DOID:4844, MONDO:0003161] synonym: "clear cell ependymoma (histologic variant)" RELATED [GARD:0006353] synonym: "ependymoma" EXACT [NCIT:C3017] synonym: "ependymoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "ependymoma" EXACT [] {comment="preferred label from MONDO"} synonym: "ependymoma, benign" EXACT [MONDO:patterns/benign] synonym: "ependymoma, benign" NARROW [MONDO:patterns/benign] synonym: "ependymoma, familial" RELATED [GARD:0006353] synonym: "epithelial ependymoma" EXACT [DOID:4844] synonym: "papillary ependymoma (histologic variant)" RELATED [GARD:0006353] synonym: "tanycytic ependymoma (histologic variant)" RELATED [GARD:0006353] synonym: "WHO grade II ependymal neoplasm" NARROW [NCIT:C3017] synonym: "WHO grade II ependymal tumor" NARROW [DOID:4844, NCIT:C3017] synonym: "WHO grade II ependymal tumour" NARROW OMO:0003005 [] xref: DOID:4844 {source="MONDO:equivalentTo"} xref: GARD:0006353 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10:D43.2 {source="Orphanet:251636", source="ORDO:251636/ntbt"} xref: ICDO:9391/3 {source="NCIT:C3017"} xref: MedDRA:10014967 {source="Orphanet:251636", source="ORDO:251636/e"} xref: MedDRA:10014967 {source="Orphanet:251636/e", source="Orphanet:251636"} xref: MESH:D004806 {source="DOID:4844", source="MONDO:equivalentTo"} xref: MONDO:0016698 xref: NCIT:C3017 {source="ONCOTREE:EPM", source="DOID:4844", source="MONDO:equivalentTo"} xref: ONCOTREE:EPM {source="MONDO:equivalentTo"} xref: Orphanet:251636 {source="MONDO:equivalentTo"} xref: Orphanet:251636 {source="MONDO:equivalentTo", source="UMLS:CN201941"} xref: UMLS:C0014474 {source="ONCOTREE:EPM", source="Orphanet:251636/e", source="DOID:4844", source="MONDO:equivalentTo", source="NCIT:C3017", source="Orphanet:251636"} xref: UMLS:C0014474 {source="ONCOTREE:EPM", source="DOID:4844", source="MONDO:equivalentTo", source="NCIT:C3017", source="Orphanet:251636", source="ORDO:251636/e"} xref: UMLS:CN201941 {source="MONDO:equivalentTo"} is_a: EFO:1000027 {source="MONDO:Redundant", source="NCIT:C3017", source="ONCOTREE:EPM", source="Orphanet:251636/inferred"} ! ependymal neoplasm is_a: MONDO:0021639 {source="MONDO:Redundant", source="NCIT:C3017"} ! grade II glioma intersection_of: EFO:1000027 {source="NCIT:C3017"} ! ependymal neoplasm intersection_of: has_characteristic MONDO:0024492 {source="NCIT:C3017"} ! tumor grade 2, general grading system property_value: closeMatch http://identifiers.org/meddra/10014967 property_value: closeMatch http://identifiers.org/snomedct/189913004 property_value: closeMatch http://identifiers.org/snomedct/253066003 property_value: closeMatch http://identifiers.org/snomedct/443643007 property_value: closeMatch http://identifiers.org/snomedct/57706008 property_value: exactMatch DOID:4844 property_value: exactMatch DOID:4844 property_value: exactMatch http://identifiers.org/meddra/10014967 property_value: exactMatch http://identifiers.org/mesh/D004806 property_value: exactMatch http://identifiers.org/mesh/D004806 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014474 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014474 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201941 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201941 property_value: exactMatch NCIT:C3017 property_value: exactMatch NCIT:C3017 property_value: exactMatch Orphanet:251636 property_value: excluded_subClassOf MONDO:0000638 {source="DOID:4844", source="MONDO:Entailed", source="MONDO:Redundant"} property_value: excluded_subClassOf MONDO:0016697 [Term] id: EFO:1000029 name: gastric adenosquamous carcinoma def: "A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation." [NCIT:C5474] synonym: "adenosquamous carcinoma of stomach" EXACT [DOID:5635, NCIT:C5474] synonym: "adenosquamous carcinoma of the stomach" EXACT [NCIT:C5474] synonym: "gastric (stomach) adenosquamous cancer" EXACT [NCIT:C5474] synonym: "gastric adenosquamous carcinoma" EXACT [NCIT:C5474] synonym: "gastric adenosquamous carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "gastric adenosquamous carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "STAS" RELATED ABBREVIATION [ONCOTREE:STAS] synonym: "stomach adenosquamous carcinoma" EXACT [MONDO:patterns/location] xref: DOID:5635 {source="MONDO:equivalentTo", source="EFO:1000029"} xref: EFO:1000029 {source="MONDO:equivalentTo"} xref: MONDO:0006034 xref: NCIT:C5474 {source="MONDO:equivalentTo", source="DOID:5635", source="EFO:1000029", source="exact-label-match"} xref: NCIT:C5474 {source="MONDO:equivalentTo", source="DOID:5635", source="EFO:1000029", source="MONDO:exact-label-match"} xref: ONCOTREE:STAS {source="MONDO:equivalentTo"} xref: UMLS:C1333761 {source="NCIT:C5474", source="MONDO:equivalentTo", source="DOID:5635", source="EFO:1000029"} is_a: EFO:1000073 {source="DOID:5635", source="MONDO:Redundant", source="NCIT:C5474"} ! Adenosquamous Carcinoma is_a: EFO:1000278 {source="DOID:5635", source="MONDO:Entailed", source="MONDO:Redundant"} ! Gastric Squamous Cell Carcinoma property_value: exactMatch DOID:5635 property_value: exactMatch DOID:5635 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333761 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333761 property_value: exactMatch NCIT:C5474 property_value: exactMatch NCIT:C5474 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: http://purl.org/dc/terms/conformsTo adenosquamous:carcinoma.yaml [Term] id: EFO:1000030 name: gastric tubular adenocarcinoma def: "A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules." [NCIT:C5473] synonym: "gastric tubular adenocarcinoma" EXACT [NCIT:C5473] synonym: "gastric tubular adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "gastric tubular adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "stomach tubular adenocarcinoma" EXACT [MONDO:patterns/location] synonym: "tubular adenocarcinoma of stomach" EXACT [DOID:6595, NCIT:C5473] synonym: "tubular adenocarcinoma of the stomach" EXACT [NCIT:C5473] synonym: "tubular stomach adenocarcinoma" RELATED [ONCOTREE:TSTAD] xref: DOID:6595 {source="EFO:1000030", source="MONDO:equivalentTo"} xref: EFO:1000030 {source="MONDO:equivalentTo"} xref: MONDO:0006035 xref: NCIT:C5473 {source="EFO:1000030", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:6595"} xref: NCIT:C5473 {source="EFO:1000030", source="MONDO:equivalentTo", source="exact-label-match", source="DOID:6595"} xref: ONCOTREE:TSTAD {source="MONDO:equivalentTo"} xref: UMLS:C1333791 {source="EFO:1000030", source="NCIT:C5473", source="MONDO:equivalentTo", source="DOID:6595"} is_a: EFO:0000503 {source="DOID:6595", source="EFO:1000030", source="MONDO:Redundant", source="NCIT:C5473/inferred", source="ONCOTREE:TSTAD"} ! gastric adenocarcinoma is_a: EFO:0006500 {source="DOID:6595", source="EFO:1000030", source="MONDO:Redundant", source="NCIT:C5473"} ! tubular adenocarcinoma property_value: exactMatch DOID:6595 property_value: exactMatch DOID:6595 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333791 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333791 property_value: exactMatch NCIT:C5473 property_value: exactMatch NCIT:C5473 [Term] id: EFO:1000031 name: obsolete_genetic disease property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.66" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use: EFO_0000508 label: genetic disorder" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000508 [Term] id: EFO:1000032 name: granulosa cell tumor def: "A slow-growing, malignant tumor, characterize by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumor that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms." [NCIT:C3070] synonym: "granulosa cell neoplasm" EXACT [DOID:2999, NCIT:C3070] synonym: "granulosa cell neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "granulosa cell tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "granulosa cell tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "granulosa cell tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3070] synonym: "granulosa cell tumor, adult type" EXACT [DOID:2999] synonym: "granulosa cell tumor, adult type (morphologic abnormality)" EXACT [DOID:2999] synonym: "granulosa cell tumor, sarcomatoid" EXACT [DOID:2999] synonym: "granulosa cell tumor, undetermined" RELATED [NCIT:C3070] synonym: "granulosa cell tumour, sarcomatoid" EXACT [DOID:2999] synonym: "GRCT" RELATED ABBREVIATION [ONCOTREE:GRCT] synonym: "neoplasm of granulosa cell" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of granulosa cell" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of granulosa cell" EXACT OMO:0003005 [] xref: DOID:2999 {source="EFO:1000032", source="MONDO:equivalentTo"} xref: EFO:1000032 {source="MONDO:equivalentTo"} xref: MESH:D006106 {source="EFO:1000032", source="MONDO:equivalentTo", source="DOID:2999"} xref: MONDO:0006036 xref: NCIT:C3070 {source="EFO:1000032", source="MONDO:equivalentTo", source="DOID:2999", source="NCIT:C3070"} xref: ONCOTREE:GRCT {source="MONDO:equivalentTo"} xref: UMLS:C0018206 {source="EFO:1000032", source="MONDO:equivalentTo", source="DOID:2999", source="NCIT:C3070"} is_a: EFO:0003769 {source="MONDO:Redundant", source="NCIT:C3070/inferred"} ! endocrine neoplasm is_a: EFO:1000052 {source="DOID:2999", source="EFO:1000032", source="NCIT:C3070"} ! sex cord-stromal tumor property_value: closeMatch http://identifiers.org/snomedct/18861007 property_value: closeMatch http://identifiers.org/snomedct/189734000 property_value: closeMatch http://identifiers.org/snomedct/46585005 property_value: closeMatch NCIT:C4205 property_value: exactMatch DOID:2999 property_value: exactMatch DOID:2999 property_value: exactMatch http://identifiers.org/mesh/D006106 property_value: exactMatch http://identifiers.org/mesh/D006106 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018206 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018206 property_value: exactMatch NCIT:C3070 property_value: exactMatch NCIT:C3070 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/neoplasm.yaml [Term] id: EFO:1000033 name: obsolete_hydrolethalus syndrome def: "An autosomal recessive disease characterized by multiple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation" [] xref: DOID:0050779 xref: ICD10CM:Q87.8 xref: OMIM:236680 xref: OMIM:614120 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.87" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate of http://www.orpha.net/ORDO/Orphanet_2189" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_2189 [Term] id: EFO:1000034 name: indeterminate colitis def: "It describes patients in whom a diagnosis of ulcerative colitis or Crohn's disease cannot be made based on standard clinical testing, including colonoscopy, imaging, laboratory tests, and biopsy." [EFO:1000034] comment: PMID:22347823 synonym: "colitis of indeterminate type" EXACT [NCIT:C27110] synonym: "indeterminate colitis" EXACT [] {comment="preferred label from MONDO"} xref: ICD10CM:K52.3 {source="MONDO:equivalentTo"} xref: ICD9:558.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MONDO:0006038 xref: NCIT:C27110 {source="EFO:1000034", source="MONDO:equivalentTo"} xref: NCIt:C27110 xref: SCTID:235746007 {source="EFO:1000034", source="MONDO:equivalentTo"} xref: SNOMEDCT:235746007 xref: UMLS:C0341332 {source="NCIT:C27110", source="EFO:1000034", source="MONDO:equivalentTo"} is_a: EFO:0003872 {source="MONDO:cjm"} ! colitis property_value: exactMatch http://identifiers.org/snomedct/235746007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341332 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K52.3 property_value: exactMatch NCIT:C27110 property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:1000035 name: infectious colitis def: "A viral or bacterial infectious process affecting the large intestine" [] def: "A viral or bacterial infectious process affecting the large intestine." [NCIT:C78359] synonym: "infectious colitis" EXACT [] {comment="preferred label from MONDO"} synonym: "infectious colitis" EXACT [NCIT:C78359] xref: MedDRA:10021905 xref: MedDRA:10021906 xref: MONDO:0006039 xref: NCIT:C78359 {source="MONDO:equivalentTo", source="EFO:1000035"} xref: NCIt:C78359 xref: SCTID:39341005 {source="MONDO:equivalentTo", source="EFO:1000035"} xref: SNOMEDCT:39341005 xref: UMLS:C0277524 {source="MONDO:equivalentTo", source="EFO:1000035", source="NCIT:C78359"} is_a: EFO:0003872 {source="EFO:1000035", source="MONDO:Redundant", source="NCIT:C78359"} ! colitis is_a: MONDO:0043424 ! digestive system infectious disorder property_value: exactMatch http://identifiers.org/snomedct/39341005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0277524 property_value: exactMatch NCIT:C78359 property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:1000036 name: lactic acidosis def: "Metabolic acidosis characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia." [NCIT:P378] def: "Metabolic disease characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia" [] synonym: "Acidosis, Lactic" EXACT [] synonym: "lactic acidosis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:3650 xref: MedDRA:10023676 xref: MESH:D000140 {source="MONDO:equivalentTo"} xref: MeSH:D000140 xref: MONDO:0006040 xref: NCIt:C98969 xref: SCTID:91273001 {source="MONDO:equivalentTo"} xref: SNOMEDCT:91273001 xref: UMLS:C0001125 {source="MONDO:equivalentTo"} is_a: EFO:0000589 ! metabolic disease property_value: exactMatch http://identifiers.org/mesh/D000140 property_value: exactMatch http://identifiers.org/snomedct/91273001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001125 property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:1000037 name: lung carcinoid tumor def: "A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis." [NCIT:C4038] synonym: "carcinoid tumor (disease) of lung" EXACT [] synonym: "carcinoid tumor of lung" EXACT [NCIT:C4038] synonym: "carcinoid tumor of the lung" EXACT [NCIT:C4038] synonym: "carcinoid tumour (disease) of lung" EXACT OMO:0003005 [] synonym: "carcinoid tumour of lung" EXACT OMO:0003005 [] synonym: "carcinoid tumour of the lung" EXACT OMO:0003005 [] synonym: "lung carcinoid" RELATED [ONCOTREE:LUCA] synonym: "lung carcinoid tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "lung carcinoid tumor" EXACT [NCIT:C4038] synonym: "lung carcinoid tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "lung carcinoid tumor (disease)" EXACT [MONDO:patterns/location] synonym: "lung carcinoid tumour (disease)" EXACT OMO:0003005 [] synonym: "pulmonary carcinoid tumor" EXACT [NCIT:C4038] synonym: "pulmonary carcinoid tumour" EXACT OMO:0003005 [] xref: EFO:1000037 {source="MONDO:equivalentTo"} xref: MONDO:0006041 xref: NCIT:C4038 {source="MONDO:equivalentTo", source="EFO:1000037", source="MONDO:exact-label-match"} xref: NCIT:C4038 {source="DesignPattern", source="MONDO:equivalentTo", source="EFO:1000037", source="exact-label-match"} xref: ONCOTREE:LUCA {source="MONDO:equivalentTo"} xref: SCTID:254627002 {source="DesignPattern", source="MONDO:equivalentTo"} xref: SCTID:254627002 {source="MONDO:equivalentTo"} xref: UMLS:C0280089 {source="MONDO:equivalentTo", source="NCIT:C4038", source="EFO:1000037"} is_a: EFO:0004243 {source="MONDO:Redundant", source="NCIT:C4038/inferred"} ! carcinoid tumor is_a: EFO:0005220 {source="MONDO:Redundant", source="NCIT:C4038", source="ONCOTREE:LUCA"} ! pulmonary neuroendocrine tumor property_value: exactMatch http://identifiers.org/snomedct/254627002 property_value: exactMatch http://identifiers.org/snomedct/254627002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280089 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280089 property_value: exactMatch NCIT:C4038 property_value: exactMatch NCIT:C4038 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:1000038 name: obsolete_lung mucoepidermoid carcinoma def: "A lung carcinoma characterized by the presence of malignant non-keratinizing squamoid cells, mucin-producing cells and intermediate type cells" [] xref: DOID:0050932 xref: NCIt:C45544 xref: UMLS:C1708778 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.64" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "merge with EFO_0006740" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0006740 [Term] id: EFO:1000039 name: meningeal tuberculosis def: "A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis" [] def: "A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis." [NCIT:P378] subset: ordo_disease synonym: "meningeal tuberculosis" EXACT [] {comment="preferred label from MONDO"} synonym: "TB meningitis" EXACT [GARD:0007828] synonym: "TBM" EXACT ABBREVIATION [Orphanet:499004] synonym: "tubercular meningitis" EXACT [Orphanet:499004] synonym: "tuberculous meningitis" EXACT [MONDO:0044684] xref: MedDRA:10027190 xref: MESH:D014390 {source="MONDO:equivalentTo"} xref: MONDO:0006042 xref: NCIT:C84888 {source="MONDO:equivalentTo", source="EFO:1000039"} xref: NCIt:C84888 xref: Orphanet:499004 {source="MONDO:equivalentTo"} xref: SCTID:58437007 {source="MONDO:equivalentTo"} xref: UMLS:C0041318 {source="NCIT:C84888", source="MONDO:equivalentTo", source="EFO:1000039"} is_a: EFO:0007199 ! central nervous system tuberculosis is_a: EFO:1000831 ! bacterial meningitis is_a: MONDO:0000271 ! tuberculous salpingitis property_value: exactMatch http://identifiers.org/mesh/D014390 property_value: exactMatch http://identifiers.org/snomedct/58437007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041318 property_value: exactMatch NCIT:C84888 property_value: exactMatch Orphanet:499004 property_value: IAO:0000117 "Laura Huerta" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4239 xsd:anyURI [Term] id: EFO:1000040 name: metaplastic breast carcinoma def: "A group of invasive breast carcinomas characterized by the presence of an adenocarcinomatous component which is admixed with a dominant component that is composed of squamous cells, spindle cells, or mesenchymal cells." [NCIT:C5164] subset: ordo_disease {source="Orphanet:213531"} synonym: "breast metaplastic carcinoma" RELATED [DOID:4680] synonym: "metaplastic breast cancer" RELATED [GARD:0010804] synonym: "metaplastic breast carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "metaplastic breast carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "metaplastic breast carcinoma" EXACT [NCIT:C5164] synonym: "metaplastic carcinoma of breast" EXACT [DOID:4680, NCIT:C5164] synonym: "metaplastic carcinoma of the breast" EXACT [DOID:4680, NCIT:C5164] xref: DOID:4680 {source="EFO:1000040", source="MONDO:equivalentTo"} xref: EFO:1000040 {source="MONDO:equivalentTo"} xref: GARD:0010804 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10:C50.0 {source="Orphanet:213531", source="ORDO:213531/btnt"} xref: ICD10:C50.1 {source="Orphanet:213531", source="ORDO:213531/btnt"} xref: ICD10:C50.2 {source="Orphanet:213531", source="MONDO:relatedTo", source="ORDO:213531/btnt"} xref: ICD10:C50.3 {source="Orphanet:213531", source="MONDO:relatedTo", source="ORDO:213531/btnt"} xref: ICD10:C50.4 {source="Orphanet:213531", source="ORDO:213531/btnt"} xref: ICD10:C50.5 {source="Orphanet:213531", source="ORDO:213531/btnt"} xref: ICD10:C50.6 {source="Orphanet:213531", source="MONDO:relatedTo", source="ORDO:213531/btnt"} xref: ICD10:C50.8 {source="Orphanet:213531", source="ORDO:213531/btnt"} xref: ICD10CM:C50.2 {source="Orphanet:213531", source="MONDO:relatedTo", source="Orphanet:213531/btnt"} xref: ICD10CM:C50.3 {source="Orphanet:213531", source="MONDO:relatedTo", source="Orphanet:213531/btnt"} xref: ICD10CM:C50.6 {source="Orphanet:213531", source="MONDO:relatedTo", source="Orphanet:213531/btnt"} xref: MONDO:0006043 xref: NCIT:C5164 {source="EFO:1000040", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4680"} xref: NCIT:C5164 {source="EFO:1000040", source="MONDO:equivalentTo", source="DOID:4680", source="exact-label-match"} xref: ONCOTREE:MBC {source="MONDO:equivalentTo"} xref: Orphanet:213531 {source="MONDO:equivalentTo"} xref: SCTID:763479005 {source="MONDO:equivalentTo"} xref: UMLS:C1334708 {source="Orphanet:213531", source="EFO:1000040", source="NCIT:C5164", source="MONDO:equivalentTo", source="DOID:4680"} is_a: EFO:1000307 {source="NCIT:C5164"} ! Invasive Breast Carcinoma property_value: exactMatch DOID:4680 property_value: exactMatch DOID:4680 property_value: exactMatch http://identifiers.org/snomedct/763479005 property_value: exactMatch http://identifiers.org/snomedct/763479005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334708 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334708 property_value: exactMatch NCIT:C5164 property_value: exactMatch NCIT:C5164 property_value: exactMatch Orphanet:213531 [Term] id: EFO:1000041 name: nephrosclerosis def: "Hardening of the kidney due to infiltration by fibrous connective tissue (fibrosis), usually caused by renovascular diseases or chronic hypertension. Nephrosclerosis leads to renal ischemia." [MESH:D009400] def: "Hardening of the walls of the small arteries and arterioles (small arteries that convey blood from arteries to the even smaller capillaries) of the kidney. This condition is caused by hypertension (high blood pressure)" [] comment: http://www.britannica.com/science/nephrosclerosis subset: gard_rare {source="GARD:0007179"} synonym: "nephrosclerosis" EXACT [] {comment="preferred label from MONDO"} synonym: "renal sclerosis" EXACT [DOID:11664] synonym: "Renal sclerosis, unspecified" EXACT [] xref: DOID:11664 {source="EFO:1000041", source="MONDO:equivalentTo"} xref: ICD9:587 {source="EFO:1000041", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11664"} xref: MedDRA:10029159 xref: MESH:D009400 {source="EFO:1000041", source="MONDO:equivalentTo", source="DOID:11664"} xref: MeSH:D009400 xref: MONDO:0006044 xref: SCTID:32916005 {source="EFO:1000041", source="MONDO:equivalentTo", source="DOID:11664"} xref: SNOMEDCT:32916005 xref: UMLS:C0027719 {source="EFO:1000041", source="MONDO:equivalentTo", source="DOID:11664"} is_a: EFO:0000537 ! hypertension is_a: MONDO:0002286 ! renal artery disease property_value: exactMatch DOID:11664 property_value: exactMatch http://identifiers.org/mesh/D009400 property_value: exactMatch http://identifiers.org/snomedct/32916005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027719 property_value: excluded_subClassOf MONDO:0001105 {source="DOID:11664"} property_value: IAO:0000117 "Laura Huerta" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7179/nephrosclerosis xsd:anyURI {source="GARD:0007179"} [Term] id: EFO:1000042 name: ovarian clear cell adenocarcinoma def: "A malignant glandular epithelial neoplasm characterized by the presence of clear and hobnail cells. It is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia." [NCIT:C40078] subset: ordo_disease {source="Orphanet:398971"} synonym: "clear cell adenocarcinoma of ovary" EXACT [MONDO:0018367] synonym: "clear cell adenocarcinoma of the ovary" RELATED [Orphanet:398971] synonym: "ovarian clear cell adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "ovarian clear cell adenocarcinoma" EXACT [NCIT:C40078, Orphanet:398971] synonym: "ovarian clear cell adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "ovary clear cell adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:5304 {source="EFO:1000042", source="MONDO:equivalentTo"} xref: EFO:1000042 {source="MONDO:equivalentTo"} xref: ICD10:C56 {source="Orphanet:398971", source="ORDO:398971/ntbt"} xref: MONDO:0006045 xref: NCIT:C40078 {source="EFO:1000042", source="DOID:5304", source="MONDO:equivalentTo"} xref: Orphanet:398971 {source="MONDO:equivalentTo"} xref: SCTID:763131005 {source="MONDO:equivalentTo"} xref: UMLS:C1518693 {source="EFO:1000042", source="DOID:5304", source="MONDO:equivalentTo", source="NCIT:C40078"} xref: UMLS:CN205034 {source="MONDO:equivalentTo"} is_a: EFO:0000348 {source="EFO:1000042", source="MONDO:Redundant", source="NCIT:C40078"} ! clear cell adenocarcinoma is_a: EFO:0006460 {source="DOID:5304", source="EFO:1000042", source="MONDO:Redundant", source="NCIT:C40078"} ! ovarian adenocarcinoma is_a: MONDO:0000548 {source="NCIT:C40078"} ! ovarian clear cell cancer property_value: exactMatch DOID:5304 property_value: exactMatch DOID:5304 property_value: exactMatch http://identifiers.org/snomedct/763131005 property_value: exactMatch http://identifiers.org/snomedct/763131005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518693 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518693 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205034 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205034 property_value: exactMatch NCIT:C40078 property_value: exactMatch NCIT:C40078 property_value: exactMatch Orphanet:398971 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1000043 name: ovarian serous cystadenocarcinoma def: "A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features." [NCIT:C7978] synonym: "ovarian serous cystadenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "ovarian serous cystadenocarcinoma" EXACT [NCIT:C7978] synonym: "ovarian serous cystadenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: DOID:5746 {source="EFO:1000043", source="MONDO:equivalentTo"} xref: EFO:1000043 {source="MONDO:equivalentTo"} xref: MONDO:0006046 xref: NCIT:C7978 {source="EFO:1000043", source="DOID:5746", source="MONDO:equivalentTo"} xref: UMLS:C0279663 {source="EFO:1000043", source="DOID:5746", source="MONDO:equivalentTo", source="NCIT:C7978"} is_a: EFO:0002917 {source="DOID:5746", source="EFO:1000043", source="MONDO:Redundant", source="NCIT:C7978"} ! ovarian serous adenocarcinoma is_a: EFO:1001962 {source="DOID:5746", source="MONDO:Redundant", source="NCIT:C7978"} ! ovarian cystadenocarcinoma is_a: MONDO:0024621 {source="MONDO:Redundant", source="NCIT:C7978"} ! serous cystadenocarcinoma property_value: exactMatch DOID:5746 property_value: exactMatch DOID:5746 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279663 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279663 property_value: exactMatch NCIT:C7978 property_value: exactMatch NCIT:C7978 [Term] id: EFO:1000044 name: pancreatic adenocarcinoma def: "A carcinoma that arises from glandular epithelial cells of the pancreas" [https://orcid.org/0000-0002-6601-2165] def: "A carcinoma that arises from glandular epithelial cells of the pancreas" [MONDO:DesignPattern] synonym: "adenocarcinoma - pancreas" EXACT [NCIT:C8294] synonym: "adenocarcinoma of pancreas" EXACT [NCIT:C8294] synonym: "adenocarcinoma of the pancreas" EXACT [DOID:4074, NCIT:C8294] synonym: "PAAD" RELATED ABBREVIATION [ONCOTREE:PAAD] synonym: "pancreas adenocarcinoma" EXACT [DOID:4074, MONDO:patterns/location, NCIT:C8294] synonym: "pancreatic adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "pancreatic adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "pancreatic adenocarcinoma" EXACT [NCIT:C8294] xref: DOID:4074 {source="EFO:1000044", source="MONDO:equivalentTo"} xref: EFO:1000044 {source="MONDO:equivalentTo"} xref: MONDO:0006047 xref: NCIT:C8294 {source="EFO:1000044", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4074"} xref: NCIT:C8294 {source="EFO:1000044", source="MONDO:equivalentTo", source="exact-label-match", source="DOID:4074"} xref: ONCOTREE:PAAD {source="MONDO:equivalentTo"} xref: SCTID:700423003 {source="EFO:1000044", source="MONDO:equivalentTo", source="DOID:4074"} xref: UMLS:C0281361 {source="EFO:1000044", source="MONDO:equivalentTo", source="NCIT:C8294", source="DOID:4074"} is_a: EFO:0000228 {source="DOID:4074", source="MONDO:Redundant", source="NCIT:C8294"} ! adenocarcinoma is_a: EFO:0002618 {source="DOID:4074", source="EFO:1000044", source="NCIT:C8294"} ! pancreatic carcinoma property_value: exactMatch DOID:4074 property_value: exactMatch DOID:4074 property_value: exactMatch http://identifiers.org/snomedct/700423003 property_value: exactMatch http://identifiers.org/snomedct/700423003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0281361 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0281361 property_value: exactMatch NCIT:C8294 property_value: exactMatch NCIT:C8294 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/adenocarcinoma.yaml [Term] id: EFO:1000045 name: pancreatic neuroendocrine tumor def: "A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. According to the presence or absence of clinical syndromes that result from hormone hypersecretion, pancreatic neuroendocrine tumors are classified either as functional or nonfunctional" [] def: "Pancreatic endocrine tumor, also known as pancreatic neuroendocrine tumor (PNET), describes a group of endocrine tumors originating in the pancreas that are usually indolent and benign, but may have the potential to be malignant. They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma)." [Orphanet:97253] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:97253"} synonym: "islet cell tumor" EXACT [NCIT:C27720] synonym: "islet cell tumors - pancreas" EXACT [NCIT:C27720] synonym: "Islet cell tumors of the pancreas" EXACT [] synonym: "islet cell tumors of the pancreas" EXACT [NCIT:C27720] synonym: "islet cell tumour" EXACT OMO:0003005 [] synonym: "islet cell tumours - pancreas" EXACT OMO:0003005 [] synonym: "islet cell tumours of the pancreas" EXACT OMO:0003005 [] synonym: "neuroendocrine tumor of pancreas" RELATED [Orphanet:97253] synonym: "neuroendocrine tumour of pancreas" RELATED OMO:0003005 [] synonym: "pancreatic endocrine tumor" RELATED [GARD:0013034] synonym: "pancreatic endocrine tumour" RELATED OMO:0003005 [] synonym: "pancreatic NET" EXACT [NCIT:C27720] synonym: "pancreatic neuroendocrine tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "pancreatic neuroendocrine tumor" EXACT [MONDO:0006048, NCIT:C27720] synonym: "PANET" RELATED ABBREVIATION [ONCOTREE:PANET] synonym: "well differentiated pancreatic endocrine neoplasm" EXACT [NCIT:C27720] synonym: "well differentiated pancreatic endocrine tumor" EXACT [NCIT:C27720] synonym: "well differentiated pancreatic endocrine tumour" EXACT OMO:0003005 [] synonym: "well-differentiated NEN of pancreas" EXACT [Orphanet:97253] synonym: "well-differentiated neuroendocrine neoplasm of pancreas" EXACT [Orphanet:97253] synonym: "well-differentiated pancreatic NEN" EXACT [Orphanet:97253] synonym: "well-differentiated pancreatic neuroendocrine neoplasm" EXACT [Orphanet:97253] xref: DOID:1799 xref: ICDO:8150/1 {source="NCIT:C27720"} xref: MedDRA:10067518 xref: MONDO:0019954 xref: NCIT:C27720 {source="EFO:1000045", source="MONDO:equivalentTo"} xref: NCIt:C27720 xref: ONCOTREE:PANET {source="MONDO:equivalentTo"} xref: Orphanet:97253 {source="MONDO:equivalentTo"} xref: UMLS:C1337011 is_a: EFO:0007331 {source="NCIT:C27720", source="Orphanet:97253"} ! islet cell tumor is_a: MONDO:0000386 {source="NCIT:C27720"} ! digestive system neuroendocrine tumor, grade 1/2 property_value: exactMatch NCIT:C27720 property_value: exactMatch Orphanet:97253 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:1000046 name: papillary lung adenocarcinoma def: "A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures." [NCIT:C5650] synonym: "lung papillary adenocarcinoma" EXACT [MONDO:patterns/location] synonym: "lung papillary-adenocarcinoma" EXACT [NCIT:C5650] synonym: "papillary adenocarcinoma of lung" EXACT [NCIT:C5650] synonym: "papillary adenocarcinoma of the lung" EXACT [DOID:5588, NCIT:C5650] synonym: "papillary lung adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "papillary lung adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "papillary lung adenocarcinoma" EXACT [NCIT:C5650] xref: DOID:5588 {source="MONDO:equivalentTo", source="EFO:1000046"} xref: EFO:1000046 {source="MONDO:equivalentTo"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="i2s"} xref: MONDO:0006049 xref: NCIT:C5650 {source="DOID:5588", source="MONDO:equivalentTo", source="EFO:1000046", source="MONDO:exact-label-match"} xref: NCIT:C5650 {source="DOID:5588", source="MONDO:equivalentTo", source="EFO:1000046", source="exact-label-match"} xref: SCTID:707411007 {source="MONDO:equivalentTo"} xref: UMLS:C1335325 {source="DOID:5588", source="NCIT:C5650", source="MONDO:equivalentTo", source="EFO:1000046"} is_a: EFO:0000571 {source="DOID:5588", source="EFO:1000046", source="MONDO:Redundant", source="NCIT:C5650"} ! lung adenocarcinoma is_a: MONDO:0002512 {source="DOID:5588", source="MONDO:Redundant", source="NCIT:C5650"} ! papillary adenocarcinoma property_value: exactMatch DOID:5588 property_value: exactMatch DOID:5588 property_value: exactMatch http://identifiers.org/snomedct/707411007 property_value: exactMatch http://identifiers.org/snomedct/707411007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335325 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335325 property_value: exactMatch NCIT:C5650 property_value: exactMatch NCIT:C5650 [Term] id: EFO:1000047 name: pleomorphic breast carcinoma def: "A rare, aggressive, high grade invasive ductal carcinoma, not otherwise specified. It is characterized by the presence of pleomorphic and bizarre malignant cells that constitute more than 50 percent of the malignant cellular infiltrate." [NCIT:P378] comment: _:comment___:_:@___:_:createdBy__http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern___:.__PMID:25197400 {source="EFO:1000047"} synonym: "anaplastic breast carcinoma" EXACT [NCIT:C5161] synonym: "pleomorphic breast carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "pleomorphic breast carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:1000047 {source="MONDO:equivalentTo"} xref: MONDO:0006050 xref: NCIT:C5161 {source="EFO:1000047", source="MONDO:equivalentTo"} xref: UMLS:C1514169 {source="EFO:1000047", source="MONDO:equivalentTo", source="NCIT:C5161"} xref: UMLS:C2211689 {source="MONDO:equivalentTo"} is_a: EFO:0000186 {source="EFO:1000047", source="NCIT:C5161"} ! invasive breast ductal carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1514169 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1514169 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2211689 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2211689 property_value: exactMatch NCIT:C5161 property_value: exactMatch NCIT:C5161 [Term] id: EFO:1000048 name: postweaning multisystemic wasting syndrome def: "Pig disease caused by porcine circovirus type 2 (PCV2). Most representative symptoms include wasting, unthriftness, paleness of the skin, respiratory distress, diarrhea and sometimes icterus." [] comment: PMID:12400999 is_a: EFO:0005932 ! animal disease relationship: only_in_taxon NCBITaxon:9823 ! Sus scrofa property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:1000049 name: pulmonary tuberculosis def: "A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss" [] def: "A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss." [NCIT:P378] synonym: "lung TB" EXACT [NCIT:C26899] synonym: "lung tuberculosis" EXACT [NCIT:C26899] synonym: "PTB" EXACT [] synonym: "pulmonary TB" EXACT [NCIT:C26899] synonym: "pulmonary tuberculosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Tuberculosis, Pulmonary" EXACT [] xref: DOID:2957 {source="MONDO:equivalentTo", source="EFO:1000049"} xref: ICD10:A15 xref: ICD10:A16 xref: ICD9:011 {source="EFO:1000049", source="DOID:2957"} xref: ICD9:011.16 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:011.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:011.81 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:011.84 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:011.85 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:011.86 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:011.9 {source="DOID:2957"} xref: ICD9:011.90 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2957"} xref: ICD9:011.92 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:011.96 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10037440 xref: MedDRA:10037443 xref: MESH:D014397 {source="MONDO:equivalentTo", source="EFO:1000049", source="DOID:2957"} xref: MeSH:D014397 xref: MONDO:0006052 xref: NCIT:C26899 {source="MONDO:equivalentTo", source="EFO:1000049", source="DOID:2957"} xref: NCIt:C26899 xref: SCTID:154283005 {source="MONDO:equivalentTo", source="EFO:1000049", source="DOID:2957"} xref: SNOMEDCT:154283005 xref: UMLS:C0041327 {source="MONDO:equivalentTo", source="EFO:1000049", source="NCIT:C26899", source="DOID:2957"} is_a: EFO:0000684 {source="Orphanet:3389"} ! respiratory system disease is_a: EFO:0003818 ! lung disease is_a: MONDO:0018076 {source="DOID:2957", source="EFO:1000049", source="MESH:D014397", source="NCIT:C26899"} ! tuberculosis property_value: exactMatch DOID:2957 property_value: exactMatch http://identifiers.org/mesh/D014397 property_value: exactMatch http://identifiers.org/snomedct/154283005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041327 property_value: exactMatch NCIT:C26899 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:1000050 name: renal leiomyoma def: "A leiomyoma that involves the kidney." [MONDO:patterns/location] synonym: "kidney leiomyoma" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "leiomyoma of kidney" EXACT [MONDO:design_pattern] synonym: "renal leiomyoma" EXACT [] {comment="preferred label from MONDO"} synonym: "renal leiomyoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:1000050 {source="MONDO:equivalentTo"} xref: MONDO:0006053 is_a: MONDO:0001572 ! leiomyoma is_a: MONDO:0002513 ! kidney benign neoplasm property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/leiomyoma.yaml property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:1000051 name: reproductive system neoplasm def: "A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system." [NCIT:C3674] synonym: "neoplasm of reproductive system" EXACT [MONDO:patterns/neoplasm, NCIT:C3674] synonym: "neoplasm of the reproductive system" EXACT [NCIT:C3674] synonym: "reproductive neoplasm" EXACT [NCIT:C3674] synonym: "reproductive system neoplasm" EXACT [NCIT:C3674] synonym: "reproductive system neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "reproductive system neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "reproductive system neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "reproductive system tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3674] synonym: "reproductive system tumour" EXACT OMO:0003005 [] synonym: "reproductive tumor" EXACT [NCIT:C3674] synonym: "reproductive tumour" EXACT OMO:0003005 [] synonym: "tumor of reproductive system" EXACT [MONDO:patterns/neoplasm, NCIT:C3674] synonym: "tumor of the reproductive system" EXACT [NCIT:C3674] synonym: "tumour of reproductive system" EXACT OMO:0003005 [] synonym: "tumour of the reproductive system" EXACT OMO:0003005 [] xref: EFO:1000051 {source="MONDO:equivalentTo"} xref: MONDO:0006054 xref: NCIT:C3674 {source="EFO:1000051", source="MONDO:equivalentTo"} xref: UMLS:C0178830 {source="EFO:1000051", source="MONDO:equivalentTo", source="NCIT:C3674"} is_a: EFO:0000512 {source="MONDO:Redundant", source="NCIT:C3674"} ! reproductive system disease is_a: EFO:0000616 {source="EFO:1000051", source="MONDO:Entailed", source="NCIT:C3674/inferred"} ! neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0178830 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0178830 property_value: exactMatch NCIT:C3674 property_value: exactMatch NCIT:C3674 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/neoplasm.yaml [Term] id: EFO:1000052 name: sex cord-stromal tumor def: "A neoplasm involving a sex cord." [MONDO:patterns/neoplasm] def: "A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary and testis." [] synonym: "malignant testicular sex cord-stromal tumor" EXACT [DOID:192] synonym: "malignant testicular sex cord-stromal tumor" NARROW [DOID:192] synonym: "malignant testicular sex cord-stromal tumour" NARROW OMO:0003005 [] synonym: "neoplasm of sex cord" EXACT [MONDO:patterns/neoplasm] synonym: "sex cord neoplasm" EXACT [] synonym: "Sex cord stromal tumor" EXACT [DOID:192] synonym: "Sex cord stromal tumour" EXACT [DOID:192] synonym: "Sex cord stromal tumour" EXACT OMO:0003005 [] synonym: "sex cord tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3794] synonym: "sex cord tumour" EXACT OMO:0003005 [] synonym: "sex cord-gonadal stromal tumor" EXACT [NCIT:C3794] synonym: "Sex Cord-Gonadal Stromal Tumors" EXACT [] synonym: "sex cord-gonadal stromal tumour" EXACT OMO:0003005 [] synonym: "Sex Cord-Stromal neoplasm" EXACT [] synonym: "Sex cord-stromal neoplasm" EXACT [DOID:192, NCIT:C3794] synonym: "Sex Cord-Stromal tumor" EXACT [] synonym: "Sex cord-stromal tumor" EXACT [DOID:192, MTH:NOCODE, NCIT:C3794] synonym: "sex cord-stromal tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "sex cord-stromal tumor" EXACT [MONDO:0005958, NCIT:C3794] synonym: "sex cord-stromal tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "Sex cord-stromal tumor, no ICD-O subtype" EXACT [DOID:192] synonym: "Sex cord-stromal tumor, no ICD-O subtype (morphologic abnormality)" EXACT [DOID:192] synonym: "Sex cord-stromal tumour" EXACT OMO:0003005 [] synonym: "specialised gonadal neoplasm" EXACT OMO:0003005 [] synonym: "specialised gonadal neoplasm (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "specialised gonadal neoplasm NOS (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "specialised gonadal tumour" EXACT OMO:0003005 [] synonym: "specialised gonadal tumour (qualifier value)" EXACT OMO:0003005 [] synonym: "specialized gonadal neoplasm" EXACT [DOID:192] synonym: "Specialized gonadal neoplasm (morphologic abnormality)" EXACT [] synonym: "specialized gonadal neoplasm (morphologic abnormality)" EXACT [DOID:192] synonym: "Specialized gonadal neoplasm NOS (morphologic abnormality)" EXACT [] synonym: "specialized gonadal neoplasm NOS (morphologic abnormality)" EXACT [DOID:192] synonym: "specialized gonadal tumor" EXACT [DOID:192] synonym: "Specialized gonadal tumor (qualifier value)" EXACT [] synonym: "specialized gonadal tumor (qualifier value)" EXACT [DOID:192] synonym: "tumor of sex cord" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of sex cord" EXACT OMO:0003005 [] xref: DOID:192 {source="MONDO:equivalentTo", source="EFO:0007483"} xref: EFO:0007483 {source="MONDO:equivalentTo"} xref: EFO:1000052 {source="MONDO:equivalentTo"} xref: ICDO:8590/1 {source="NCIT:C3794"} xref: MeSH:D018312 xref: MONDO:0006055 xref: NCIT:C3794 {source="EFO:1000052", source="DOID:192", source="MONDO:equivalentTo"} xref: UMLS:C0206724 {source="EFO:1000052", source="DOID:192", source="MONDO:equivalentTo", source="NCIT:C3794"} xref: UMLS:C1515289 {source="DOID:192", source="MONDO:equivalentTo"} is_a: EFO:1000051 {source="EFO:1000052", source="MONDO:Entailed", source="NCIT:C3794/inferred"} ! reproductive system neoplasm property_value: closeMatch http://identifiers.org/mesh/D018312 property_value: closeMatch http://identifiers.org/snomedct/115221000 property_value: closeMatch http://identifiers.org/snomedct/134323003 property_value: closeMatch http://identifiers.org/snomedct/189724009 property_value: closeMatch http://identifiers.org/snomedct/189741006 property_value: closeMatch http://identifiers.org/snomedct/253028001 property_value: closeMatch http://identifiers.org/snomedct/71440001 property_value: closeMatch NCIT:C39948 property_value: exactMatch DOID:192 property_value: exactMatch DOID:192 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206724 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206724 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1515289 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1515289 property_value: exactMatch NCIT:C3794 property_value: exactMatch NCIT:C3794 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/neoplasm.yaml property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000053 name: squamous cell breast carcinoma def: "A rare carcinoma that arises from the breast parenchyma and is entirely composed of squamous cells." [NCIT:C5177] synonym: "breast primary squamous cell carcinoma" EXACT [DOID:5514] synonym: "breast squamous cell carcinoma" EXACT [MONDO:patterns/location] synonym: "metaplastic squamous cell carcinoma" RELATED [ONCOTREE:MSCC] synonym: "primary squamous cell breast carcinoma" EXACT [NCIT:C5177] synonym: "primary squamous cell carcinoma of breast" EXACT [DOID:5514, NCIT:C5177] synonym: "primary squamous cell carcinoma of the breast" EXACT [DOID:5514, NCIT:C5177, NCIT:C5179] synonym: "scc of breast" EXACT [DOID:5514, NCIT:C5177] synonym: "scc of the breast" EXACT [NCIT:C5177] synonym: "squamous breast carcinoma" EXACT [NCIT:C5177] synonym: "squamous carcinoma of breast" EXACT [NCIT:C5177] synonym: "squamous carcinoma of the breast" EXACT [NCIT:C5177] synonym: "squamous cell breast carcinoma" EXACT [NCIT:C5177] synonym: "squamous cell breast carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "squamous cell breast carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "squamous cell carcinoma of breast" EXACT [DOID:5514, NCIT:C5177] synonym: "squamous cell carcinoma of the breast" EXACT [NCIT:C5177] xref: DOID:5514 {source="EFO:1000053", source="MONDO:equivalentTo"} xref: EFO:1000053 {source="MONDO:equivalentTo"} xref: MONDO:0006056 xref: NCIT:C5177 {source="EFO:1000053", source="MONDO:equivalentTo", source="DOID:5514", source="MONDO:exact-label-match"} xref: NCIT:C5177 {source="EFO:1000053", source="MONDO:equivalentTo", source="DOID:5514", source="exact-label-match"} xref: ONCOTREE:MSCC {source="MONDO:equivalentTo"} xref: UMLS:C1336079 {source="EFO:1000053", source="NCIT:C5177", source="MONDO:equivalentTo", source="DOID:5514"} is_a: EFO:0000707 {source="DOID:5514", source="EFO:1000053", source="MONDO:Redundant", source="NCIT:C5177"} ! squamous cell carcinoma is_a: EFO:1000040 {source="DOID:5514", source="ONCOTREE:MSCC/inferred"} ! metaplastic breast carcinoma property_value: exactMatch DOID:5514 property_value: exactMatch DOID:5514 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336079 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336079 property_value: exactMatch NCIT:C5177 property_value: exactMatch NCIT:C5177 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/squamous_cell_carcinoma.yaml [Term] id: EFO:1000054 name: thymic lymphoma def: "A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma." [NCIT:C6451] synonym: "lymphoma of the Thymus" EXACT [NCIT:C6451] synonym: "lymphoma of Thymus" EXACT [NCIT:C6451] synonym: "lymphoma of thymus" EXACT [] synonym: "primary thymic lymphoma" EXACT [NCIT:C6451] synonym: "thymic lymphoma" EXACT [MONDO:0006057, NCIT:C6451] synonym: "Thymus lymphoma" EXACT [NCIT:C6451] synonym: "thymus lymphoma" EXACT [MONDO:patterns/location] synonym: "thymus lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "thymus lymphoma" EXACT [] {comment="preferred label from MONDO"} xref: DOID:10146 {source="MONDO:equivalentTo"} xref: EFO:1000054 {source="MONDO:equivalentTo"} xref: MONDO:0000951 xref: NCIT:C6451 {source="EFO:1000054", source="MONDO:equivalentTo", source="DOID:10146"} xref: UMLS:C1336745 {source="EFO:1000054", source="NCIT:C6451", source="MONDO:equivalentTo", source="DOID:10146"} is_a: MONDO:0002586 {source="DOID:10146", source="MONDO:Redundant", source="NCIT:C6451"} ! thymus cancer is_a: MONDO:0004021 {source="NCIT:C6451"} ! mediastinal malignant lymphoma property_value: exactMatch DOID:10146 property_value: exactMatch DOID:10146 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336745 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336745 property_value: exactMatch NCIT:C6451 property_value: exactMatch NCIT:C6451 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/lymphoma.yaml [Term] id: EFO:1000055 name: tongue squamous cell carcinoma def: "A squamous cell carcinoma that arises from the tongue. It usually presents as a painful ulcerated or nodular lesion. The size of the tumor and the status of the lymph nodes are the most important factors that determine prognosis." [] xref: DOID:0050865 xref: ICD10:C44 xref: NCIt:C4648 xref: UMLS:C0349566 is_a: EFO:0003871 ! tongue neoplasm property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:1000056 name: obsolete_Wilms tumor(2) def: "An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix" [] comment: Please stop creating Wilms' tumor classes. This should really use Nephrablastoma! Second round of obsoletion yields error of non-unique class labels in EFO and it is confusing. synonym: "Wilms' tumor" EXACT [] xref: MeSH:D009396 xref: NCIt:C3267 xref: UMLS:CL343552 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.85" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "in favor of Nephroblastoma having Wilm's tumor as a synonym" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_654 [Term] id: EFO:1000057 name: nasal cavity squamous cell carcinoma def: "A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass." [NCIT:C8192] synonym: "nasal cavity squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C8192] synonym: "nasal cavity squamous cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "nasal cavity squamous cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "squamous cell carcinoma of nasal cavity" EXACT [DOID:5515, NCIT:C8192] synonym: "squamous cell carcinoma of the nasal cavity" EXACT [DOID:5515, NCIT:C8192] xref: DOID:5515 {source="MONDO:equivalentTo", source="EFO:1000057"} xref: EFO:1000057 {source="MONDO:equivalentTo"} xref: MONDO:0006059 xref: NCIT:C8192 {source="DOID:5515", source="MONDO:equivalentTo", source="EFO:1000057", source="exact-label-match"} xref: NCIT:C8192 {source="DOID:5515", source="MONDO:equivalentTo", source="EFO:1000057", source="MONDO:exact-label-match"} xref: UMLS:C0280333 {source="DOID:5515", source="MONDO:equivalentTo", source="EFO:1000057", source="NCIT:C8192"} is_a: EFO:0000181 {source="EFO:1000057", source="MONDO:Redundant", source="NCIT:C8192/inferred"} ! head and neck squamous cell carcinoma is_a: MONDO:0003212 {source="DOID:5515", source="MONDO:Redundant", source="NCIT:C8192"} ! nasal cavity carcinoma relationship: EFO:0000784 UBERON:0001707 ! has_disease_location nasal cavity property_value: exactMatch DOID:5515 property_value: exactMatch DOID:5515 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280333 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280333 property_value: exactMatch NCIT:C8192 property_value: exactMatch NCIT:C8192 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/squamous_cell_carcinoma.yaml [Term] id: EFO:1000058 name: nasopharyngeal squamous cell carcinoma def: "A squamous cell carcinoma that arises from the nasopharynx." [https://github.com/monarch-initiative/mondo/pull/1457] synonym: "nasopharyngeal squamous cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "nasopharyngeal squamous cell carcinoma" EXACT [] {comment="preferred label from MONDO"} xref: EFO:1000058 {source="MONDO:equivalentTo"} xref: MESH:C538339 {source="MONDO:relatedTo", source="EFO:1000058"} xref: MONDO:0006060 xref: NCIT:C167265 {source="MONDO:equivalentTo"} xref: NCIT:C3871 {source="MONDO:relatedTo", source="EFO:1000058"} is_a: EFO:0000181 {source="EFO:1000058"} ! head and neck squamous cell carcinoma is_a: EFO:0000684 ! respiratory system disease relationship: EFO:0000784 UBERON:0001728 ! has_disease_location nasopharynx property_value: closeMatch http://identifiers.org/snomedct/449248000 property_value: exactMatch NCIT:C167265 property_value: relatedMatch http://identifiers.org/mesh/C538339 [Term] id: EFO:1000059 name: cervical artery dissection def: "A tear within the wall of any of the arteries of the neck (carotid artery or vertebral artery) and that allows blood to separate the wall layers. By separating a portion of the wall of the artery (a layer of the Tunica intima or tunica media), a dissection creates two lumens or passages within the vessel, the native or true lumen, and the \"false lumen\" created by the new space within the wall of the artery." [EFO:1000059] def: "a tear within the wall of any of the arteries of the neck (carotid artery or vertebral artery) and that allows blood to separate the wall layers. By separating a portion of the wall of the artery (a layer of the Tunica intima or tunica media), a dissection creates two lumens or passages within the vessel, the native or true lumen, and the \"false lumen\" created by the new space within the wall of the artery." [] synonym: "cervical artery dissection" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0006061 is_a: MONDO:0000473 ! arterial disorder property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1000060 name: intestinal disaccharide deficiency and disaccharide malabsorption alt_id: MONDO:0006062 def: "Inherited or acquired disorders of sugar metabolism. Deficiencies of lactase, maltase or sucrase-isomaltase usually occur irreversibly and independent of one another. Congenital deficiencies are rare whereas acquired deficiencies are more common and may be seen following intestinal mucosal brush-border injury. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following dietary intake of lactose, maltose or sucrose. The clinical course leads to malabsorption of disaccharides which has implications for normal growth and development if manifested at an early age." [EFO:1000060] synonym: "intestinal disaccharidase deficiency" EXACT [] {comment="preferred label from MONDO"} synonym: "intestinal disaccharidase deficiency and disaccharide malabsorption" EXACT [NCIT:C34731] synonym: "intestinal disaccharide deficiency and disaccharide malabsorption" RELATED [] xref: DOID:9868 {source="MONDO:equivalentTo"} xref: ICD9:271.3 {source="MONDO:relatedTo", source="DOID:9868", source="MONDO:i2s"} xref: MONDO:0004905 xref: NCIT:C34731 {source="DOID:9868", source="MONDO:equivalentTo"} xref: SCTID:22169002 {source="MONDO:equivalentTo"} is_a: EFO:0009554 {source="NCIT:C34731"} ! malabsorption syndrome is_a: MONDO:0037792 ! carbohydrate metabolism disease relationship: EFO:0000784 UBERON:0001007 ! has_disease_location digestive system relationship: qualifier PATO:0000460 ! abnormal relationship: RO:0000056 GO:0005975 ! participates_in carbohydrate metabolic process property_value: definition:citation DOID:9868 xsd:string property_value: definition:citation NCIt:C34731 xsd:string property_value: exactMatch DOID:9868 property_value: exactMatch http://identifiers.org/snomedct/22169002 property_value: exactMatch NCIT:C34731 property_value: excluded_subClassOf MONDO:0019214 {source="DOID:9868"} property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: EFO:1000061 name: obsolete_carbohydrate metabolic disorder property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.98" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication\nUse http://www.orpha.net/ORDO/Orphanet_79161\nLabel : Disorder of carbohydrate metabolism" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_79161 [Term] id: EFO:1000062 name: lactose intolerance def: "Inability to fully digest and absorb lactose due to limited or no lactase activity in the small intestine. Congenital intolerance is inherited following an autosomal recessive pattern but is rare. It is more often due to a gradual decline of lactase production in adulthood following the ingestion of fewer lactose-containing foods or secondary to an intestinal mucosal brush-border injury. Prevalence is highest among Asians, Native Americans and Africans. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following the dietary intake of lactose." [] synonym: "lactase persistence" RELATED [OMIM:223100] synonym: "lactose intolerance" EXACT [MONDO:ambiguous] synonym: "lactose intolerance" EXACT [] {comment="preferred label from MONDO"} synonym: "lactose intolerance (disease)" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:0009116] synonym: "LM - lactose malabsorption" EXACT [DOID:10604] xref: DOID:10604 {source="MONDO:equivalentTo"} xref: HP:0004789 {source="MONDO:otherHierarchy"} xref: ICD10:E73 xref: ICD9:271.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10023681 xref: MESH:D007787 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo", source="DOID:10604"} xref: MONDO:0100345 xref: NCIT:C3154 {source="MONDO:equivalentTo", source="DOID:10604"} xref: SCTID:267425008 {source="MONDO:equivalentTo", source="DOID:10604"} xref: UMLS:C0022951 {source="NCIT:C3154", source="MONDO:equivalentTo", source="DOID:10604"} is_a: EFO:0001069 {source="EFO:1000062"} ! nutritional disorder is_a: EFO:0009554 ! malabsorption syndrome is_a: MONDO:0019214 {source="DOID:10604", source="NCIT:C3154"} ! inborn carbohydrate metabolic disorder property_value: definition:citation "DOID_10604" xsd:string property_value: definition:citation HP:0004789 xsd:string property_value: exactMatch DOID:10604 property_value: exactMatch http://identifiers.org/mesh/D007787 property_value: exactMatch http://identifiers.org/snomedct/267425008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022951 property_value: exactMatch NCIT:C3154 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000589 "lactose intolerance (disease)" xsd:string [Term] id: EFO:1000063 name: lactose intolerance adult type def: "Adult onset lactose intolerance" [EFO:1000063] synonym: "adult lactase deficiency" EXACT [OMIM:223100] synonym: "disaccharide intolerance 3" EXACT [OMIM:223100] synonym: "hypolactasia, adult type" EXACT [OMIM:223100] synonym: "lactase persistence/nonpersistence" EXACT [OMIM:223100, OMIM:genemap2] synonym: "lactose intolerance adult type" EXACT [] {comment="preferred label from MONDO"} synonym: "lactose intolerance, ADULT type" EXACT [OMIM:223100] xref: MONDO:0006065 xref: OMIM:223100 {source="MONDO:equivalentTo"} xref: Orphanet:319681 {source="MONDO:equivalentObsolete"} is_a: EFO:1000062 {source="EFO:1000063"} ! lactose intolerance property_value: exactMatch https://omim.org/entry/223100 property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: EFO:1000064 name: Acinar Prostate Adenocarcinoma, Foamy Gland Variant def: "A variant of acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm." [NCIT:P378] synonym: "acinar prostate adenocarcinoma, foamy gland variant" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "acinar prostate adenocarcinoma, foamy gland variant" EXACT [] {comment="preferred label from MONDO"} xref: EFO:1000064 {source="MONDO:equivalentTo"} xref: MONDO:0006066 xref: NCIT:C39882 {source="EFO:1000064", source="MONDO:equivalentTo"} xref: UMLS:C1515863 {source="NCIT:C39882", source="MONDO:equivalentTo"} is_a: MONDO:0002493 ! prostatic acinar adenocarcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1515863 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1515863 property_value: exactMatch NCIT:C39882 property_value: exactMatch NCIT:C39882 [Term] id: EFO:1000065 name: Acinar Prostate Mucinous Adenocarcinoma def: "A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin." [NCIT:C5537] synonym: "acinar colloid prostate adenocarcinoma" EXACT [DOID:3703, NCIT:C5537] synonym: "acinar prostate mucinous adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "acinar prostate mucinous adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "colloid adenocarcinoma of prostate" EXACT [NCIT:C5537] synonym: "colloid adenocarcinoma of the prostate" EXACT [NCIT:C5537] synonym: "colloidal adenocarcinoma of prostate" EXACT [NCIT:C5537] synonym: "colloidal adenocarcinoma of the prostate" EXACT [NCIT:C5537] synonym: "colloidal prostate adenocarcinoma" EXACT [NCIT:C5537] synonym: "mucinous adenocarcinoma of prostate" EXACT [NCIT:C5537] synonym: "mucinous adenocarcinoma of the prostate" EXACT [NCIT:C5537] synonym: "prostate colloid adenocarcinoma" EXACT [MONDO:0002743] xref: DOID:3703 {source="MONDO:equivalentTo"} xref: EFO:1000065 {source="MONDO:equivalentTo"} xref: MONDO:0006067 xref: NCIT:C5537 {source="EFO:1000065", source="MONDO:equivalentTo", source="DOID:3703"} xref: UMLS:C1335513 {source="MONDO:equivalentTo", source="DOID:3703", source="NCIT:C5537"} is_a: EFO:0000197 {source="EFO:1000065", source="NCIT:C5537"} ! mucinous carcinoma is_a: MONDO:0002493 ! prostatic acinar adenocarcinoma relationship: EFO:0000784 CL:0000622 ! has_disease_location acinar cell property_value: exactMatch DOID:3703 property_value: exactMatch DOID:3703 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335513 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335513 property_value: exactMatch NCIT:C5537 property_value: exactMatch NCIT:C5537 [Term] id: EFO:1000066 name: ACTH-Producing Pituitary Gland Adenoma def: "An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion." [NCIT:P378] synonym: "ACTH producing pituitary gland adenoma" EXACT [NCIT:C7462] synonym: "ACTH secreting adenoma of pituitary" EXACT [NCIT:C7462] synonym: "ACTH secreting adenoma of the pituitary" EXACT [NCIT:C7462] synonym: "ACTH-producing pituitary adenoma" EXACT [NCIT:C7462] synonym: "ACTH-producing pituitary gland adenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "ACTH-producing pituitary gland adenoma" EXACT [] {comment="preferred label from MONDO"} synonym: "ACTH-producing pituitary gland adenoma" EXACT [NCIT:C7462] synonym: "ACTH-secreting adenoma of pituitary" EXACT [NCIT:C7462] synonym: "ACTH-secreting adenoma of pituitary gland" EXACT [NCIT:C7462] synonym: "ACTH-secreting adenoma of the pituitary" EXACT [NCIT:C7462] synonym: "ACTH-secreting adenoma of the pituitary gland" EXACT [NCIT:C7462] synonym: "ACTHoma" EXACT [NCIT:C7462] synonym: "adrenocorticotropin producing adenoma of pituitary" EXACT [NCIT:C7462] synonym: "adrenocorticotropin producing adenoma of pituitary gland" EXACT [NCIT:C7462] synonym: "adrenocorticotropin producing adenoma of the pituitary" EXACT [NCIT:C7462] synonym: "adrenocorticotropin producing adenoma of the pituitary gland" EXACT [NCIT:C7462] synonym: "adrenocorticotropin producing pituitary adenoma" EXACT [NCIT:C7462] synonym: "adrenocorticotropin producing pituitary gland adenoma" EXACT [NCIT:C7462] synonym: "adrenocorticotropin secreting adenoma of pituitary" EXACT [NCIT:C7462] synonym: "adrenocorticotropin secreting adenoma of pituitary gland" EXACT [NCIT:C7462] synonym: "adrenocorticotropin secreting adenoma of the pituitary" EXACT [NCIT:C7462] synonym: "adrenocorticotropin secreting adenoma of the pituitary gland" EXACT [NCIT:C7462] synonym: "adrenocorticotropin secreting pituitary adenoma" EXACT [NCIT:C7462] synonym: "adrenocorticotropin secreting pituitary gland adenoma" EXACT [NCIT:C7462] synonym: "corticotroph adenoma" EXACT [NCIT:C7462] synonym: "corticotropic adenoma" EXACT [NCIT:C7462] synonym: "corticotropin secreting adenoma of the pituitary" EXACT [NCIT:C7462] synonym: "corticotropin secreting pituitary gland adenoma" EXACT [NCIT:C7462] synonym: "Corticotropinoma" EXACT [NCIT:C7462] synonym: "pituitary ACTH secreting adenoma" EXACT [NCIT:C7462] synonym: "pituitary ACTH-secreting adenoma" EXACT [NCIT:C7462] synonym: "pituitary corticotropin secreting adenoma" EXACT [NCIT:C7462] synonym: "pituitary gland ACTH-secreting adenoma" EXACT [NCIT:C7462] xref: EFO:1000066 {source="MONDO:equivalentTo"} xref: MONDO:0006068 xref: NCIT:C7462 {source="EFO:1000066", source="MONDO:equivalentTo"} xref: UMLS:C1306214 {source="NCIT:C7462", source="MONDO:directSiblingOf"} is_a: EFO:1000478 {source="MONDO:Redundant", source="NCIT:C7462"} ! Pituitary Gland Adenoma is_a: MONDO:0045058 {source="MONDO:Redundant", source="NCIT:C7462"} ! ACTH-producing pituitary gland neoplasm property_value: exactMatch NCIT:C7462 property_value: exactMatch NCIT:C7462 [Term] id: EFO:1000067 name: ACTH-Producing Pituitary Gland Carcinoma def: "A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease." [NCIT:C5964] synonym: "ACTH producing pituitary gland carcinoma" EXACT [NCIT:C5964] synonym: "ACTH-producing pituitary gland carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "ACTH-producing pituitary gland carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "malignant ACTH producing neoplasm of pituitary" EXACT [NCIT:C5964] synonym: "malignant ACTH producing neoplasm of pituitary gland" EXACT [MONDO:0003838] synonym: "malignant ACTH producing neoplasm of the pituitary" EXACT [NCIT:C5964] synonym: "malignant ACTH producing neoplasm of the pituitary gland" EXACT [NCIT:C5964] synonym: "malignant ACTH producing pituitary gland neoplasm" EXACT [NCIT:C5964] synonym: "malignant ACTH producing pituitary gland tumor" EXACT [NCIT:C5964] synonym: "malignant ACTH producing pituitary gland tumour" EXACT OMO:0003005 [] synonym: "malignant ACTH producing pituitary neoplasm" EXACT [NCIT:C5964] synonym: "malignant ACTH producing pituitary tumor" EXACT [NCIT:C5964] synonym: "malignant ACTH producing pituitary tumour" EXACT OMO:0003005 [] synonym: "malignant ACTH producing tumor of pituitary" EXACT [NCIT:C5964] synonym: "malignant ACTH producing tumor of pituitary gland" EXACT [NCIT:C5964] synonym: "malignant ACTH producing tumor of the pituitary" EXACT [NCIT:C5964] synonym: "malignant ACTH producing tumor of the pituitary gland" EXACT [NCIT:C5964] synonym: "malignant ACTH producing tumour of pituitary" EXACT OMO:0003005 [] synonym: "malignant ACTH producing tumour of pituitary gland" EXACT OMO:0003005 [] synonym: "malignant ACTH producing tumour of the pituitary" EXACT OMO:0003005 [] synonym: "malignant ACTH producing tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "malignant ACTH secreting neoplasm of pituitary" EXACT [NCIT:C5964] synonym: "malignant ACTH secreting neoplasm of pituitary gland" EXACT [NCIT:C5964] synonym: "malignant ACTH secreting neoplasm of the pituitary" EXACT [NCIT:C5964] synonym: "malignant ACTH secreting neoplasm of the pituitary gland" EXACT [NCIT:C5964] synonym: "malignant ACTH secreting pituitary gland tumor" EXACT [NCIT:C5964] synonym: "malignant ACTH secreting pituitary gland tumour" EXACT OMO:0003005 [] synonym: "malignant ACTH secreting pituitary neoplasm" EXACT [NCIT:C5964] synonym: "malignant ACTH secreting pituitary tumor" EXACT [NCIT:C5964] synonym: "malignant ACTH secreting pituitary tumour" EXACT OMO:0003005 [] synonym: "malignant ACTH secreting tumor of pituitary" EXACT [NCIT:C5964] synonym: "malignant ACTH secreting tumor of pituitary gland" EXACT [NCIT:C5964] synonym: "malignant ACTH secreting tumor of the pituitary" EXACT [NCIT:C5964] synonym: "malignant ACTH secreting tumor of the pituitary gland" EXACT [NCIT:C5964] synonym: "malignant ACTH secreting tumour of pituitary" EXACT OMO:0003005 [] synonym: "malignant ACTH secreting tumour of pituitary gland" EXACT OMO:0003005 [] synonym: "malignant ACTH secreting tumour of the pituitary" EXACT OMO:0003005 [] synonym: "malignant ACTH secreting tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "malignant adrenocorticotropin producing neoplasm of pituitary" EXACT [NCIT:C5964] synonym: "malignant adrenocorticotropin producing neoplasm of pituitary gland" EXACT [NCIT:C5964] synonym: "malignant adrenocorticotropin producing neoplasm of the pituitary" EXACT [NCIT:C5964] synonym: "malignant adrenocorticotropin producing neoplasm of the pituitary gland" EXACT [NCIT:C5964] synonym: "malignant adrenocorticotropin producing pituitary gland neoplasm" EXACT [NCIT:C5964] synonym: "malignant adrenocorticotropin producing pituitary gland tumor" EXACT [NCIT:C5964] synonym: "malignant adrenocorticotropin producing pituitary gland tumour" EXACT OMO:0003005 [] synonym: "malignant adrenocorticotropin producing pituitary neoplasm" EXACT [NCIT:C5964] synonym: "malignant adrenocorticotropin producing pituitary tumor" EXACT [NCIT:C5964] synonym: "malignant adrenocorticotropin producing pituitary tumour" EXACT OMO:0003005 [] synonym: "malignant adrenocorticotropin producing tumor of pituitary" EXACT [NCIT:C5964] synonym: "malignant adrenocorticotropin producing tumor of pituitary gland" EXACT [NCIT:C5964] synonym: "malignant adrenocorticotropin producing tumor of the pituitary" EXACT [NCIT:C5964] synonym: "malignant adrenocorticotropin producing tumor of the pituitary gland" EXACT [NCIT:C5964] synonym: "malignant adrenocorticotropin producing tumour of pituitary" EXACT OMO:0003005 [] synonym: "malignant adrenocorticotropin producing tumour of pituitary gland" EXACT OMO:0003005 [] synonym: "malignant adrenocorticotropin producing tumour of the pituitary" EXACT OMO:0003005 [] synonym: "malignant adrenocorticotropin producing tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "malignant adrenocorticotropin secreting pituitary gland neoplasm" EXACT [NCIT:C5964] synonym: "malignant adrenocorticotropin secreting pituitary gland tumor" EXACT [NCIT:C5964] synonym: "malignant adrenocorticotropin secreting pituitary gland tumour" EXACT OMO:0003005 [] synonym: "malignant adrenocorticotropin secreting pituitary neoplasm" EXACT [NCIT:C5964] synonym: "malignant adrenocorticotropin secreting pituitary tumor" EXACT [NCIT:C5964] synonym: "malignant adrenocorticotropin secreting pituitary tumour" EXACT OMO:0003005 [] synonym: "malignant corticotropin secreting pituitary gland neoplasm" EXACT [NCIT:C5964] synonym: "malignant Corticotropinoma of pituitary" EXACT [NCIT:C5964] synonym: "malignant Corticotropinoma of pituitary gland" EXACT [NCIT:C5964] synonym: "malignant Corticotropinoma of the pituitary" EXACT [DOID:6276, NCIT:C5964] synonym: "malignant Corticotropinoma of the pituitary gland" EXACT [NCIT:C5964] synonym: "malignant pituitary Corticotropinoma" EXACT [NCIT:C5964] synonym: "malignant pituitary gland Corticotropinoma" EXACT [NCIT:C5964] xref: DOID:6276 {source="MONDO:equivalentTo"} xref: EFO:1000067 {source="MONDO:equivalentTo"} xref: MONDO:0006069 xref: NCIT:C5964 {source="EFO:1000067", source="MONDO:equivalentTo", source="DOID:6276"} xref: UMLS:C1334556 {source="MONDO:equivalentTo", source="NCIT:C5964", source="DOID:6276"} is_a: MONDO:0017582 ! pituitary adenocarcinoma is_a: MONDO:0045058 ! ACTH-producing pituitary gland neoplasm property_value: exactMatch DOID:6276 property_value: exactMatch DOID:6276 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334556 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334556 property_value: exactMatch NCIT:C5964 property_value: exactMatch NCIT:C5964 property_value: excluded_subClassOf MONDO:0003604 {source="DOID:6276"} [Term] id: EFO:1000068 name: Acute Leukemia def: "A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." [NCIT:C9300] synonym: "acute leukaemia (disease)" EXACT OMO:0003005 [] synonym: "acute leukemia" EXACT [] {comment="preferred label from MONDO"} synonym: "acute leukemia" EXACT [MONDO:ambiguous, NCIT:C9300] synonym: "acute leukemia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "acute leukemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "leukemia, acute, X-linked" RELATED [OMIM:308960] synonym: "stem cell leukaemia" EXACT [DOID:12603] synonym: "stem cell leukaemia" RELATED OMO:0003005 [] synonym: "stem cell leukaemia (disease)" RELATED OMO:0003005 [] synonym: "stem cell leukemia" EXACT [DOID:12603, NCIT:C9298] synonym: "stem cell leukemia" RELATED [DOID:12603, NCIT:C9298] synonym: "stem cell leukemia (disease)" EXACT [MONDO:patterns/location] synonym: "stem cell leukemia (disease)" RELATED [MONDO:patterns/location] xref: COHD:138708 {source="MONDO:equivalentTo"} xref: DOID:12603 {source="MONDO:equivalentTo"} xref: EFO:1000068 {source="MONDO:equivalentTo"} xref: HP:0002488 {source="MONDO:otherHierarchy"} xref: ICD10:C95.0 {source="DOID:12603"} xref: ICD10:C95.00 {source="DOID:12603"} xref: ICD9:208.0 {source="DOID:12603"} xref: ICD9:208.00 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:208.00 {source="MONDO:equivalentTo", source="i2s"} xref: ICDO:9801/3 {source="NCIT:C9300"} xref: MESH:C564112 {source="MONDO:equivalentTo"} xref: MONDO:0010643 xref: NCIT:C9298 {source="DOID:12603", source="MONDO:relatedTo"} xref: NCIT:C9300 {source="DOID:12603", source="MONDO:equivalentTo", source="EFO:1000068"} xref: OMIM:308960 xref: SCTID:91855006 {source="DOID:12603", source="MONDO:equivalentTo"} is_a: EFO:0000565 {source="DOID:12603", source="EFO:1000068", source="MESH:C564112", source="MONDO:Entailed", source="NCIT:C9300"} ! leukemia is_a: MONDO:0020683 ! acute disease property_value: closeMatch http://identifiers.org/snomedct/154599000 property_value: closeMatch http://identifiers.org/snomedct/188763007 property_value: closeMatch http://identifiers.org/snomedct/24072005 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0085669 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1378511 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839882 property_value: exactMatch DOID:12603 property_value: exactMatch DOID:12603 property_value: exactMatch http://identifiers.org/mesh/C564112 property_value: exactMatch http://identifiers.org/mesh/C564112 property_value: exactMatch http://identifiers.org/snomedct/91855006 property_value: exactMatch http://identifiers.org/snomedct/91855006 property_value: exactMatch NCIT:C9300 property_value: exactMatch NCIT:C9300 [Term] id: EFO:1000069 name: Adamantinomatous Craniopharyngioma def: "A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO)" [] xref: MedDRA:10084711 xref: NCIt:C4726 is_a: EFO:0001379 ! endocrine system disease is_a: EFO:0002461 ! skeletal system disease is_a: EFO:0003833 ! brain neoplasm [Term] id: EFO:1000070 name: Adenofibroma def: "A benign neoplasm characterized by the presence of connective tissue stroma and epithelial structures. It occurs in the ovary, fallopian tube, uterine corpus, and cervix. Cases of adenofibroma of the ovary with low grade malignant potential have also been reported." [NCIT:C8984] synonym: "adenofibroma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "adenofibroma" EXACT [] {comment="preferred label from MONDO"} synonym: "adenofibroma, benign" EXACT [NCIT:C8984] synonym: "adenofibroma, no ICD-O subtype" EXACT [DOID:2683] synonym: "adenofibroma, no ICD-O subtype (morphologic abnormality)" EXACT [DOID:2683] synonym: "benign mixed Muellerian tumor" EXACT [NCIT:C8984] synonym: "benign mixed Muellerian tumour" EXACT OMO:0003005 [] synonym: "female reproductive system adenofibroma" EXACT [NCIT:C8984] xref: DOID:2683 {source="MONDO:equivalentTo"} xref: EFO:1000070 {source="MONDO:equivalentTo"} xref: ICDO:9013/0 {source="NCIT:C8984"} xref: MESH:D000232 {source="DOID:2683", source="MONDO:equivalentTo"} xref: MONDO:0006071 xref: NCIT:C8984 {source="DOID:2683", source="MONDO:equivalentTo", source="EFO:1000070"} xref: UMLS:C0001422 {source="DOID:2683", source="NCIT:C8984", source="MONDO:equivalentTo"} is_a: EFO:0002424 {source="EFO:1000070"} ! fibroma is_a: MONDO:0000624 {source="NCIT:C8984"} ! benign female reproductive system neoplasm property_value: closeMatch http://identifiers.org/snomedct/189823009 property_value: closeMatch http://identifiers.org/snomedct/2962009 property_value: exactMatch DOID:2683 property_value: exactMatch DOID:2683 property_value: exactMatch http://identifiers.org/mesh/D000232 property_value: exactMatch http://identifiers.org/mesh/D000232 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001422 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001422 property_value: exactMatch NCIT:C8984 property_value: exactMatch NCIT:C8984 [Term] id: EFO:1000071 name: Adenoid Cystic Breast Carcinoma def: "An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent." [NCIT:C5130] subset: gard_rare {source="GARD:0012774"} subset: ordo_disease {source="Orphanet:213557"} synonym: "adenocystic breast carcinoma" EXACT [NCIT:C5130] synonym: "adenocystic carcinoma of breast" EXACT [NCIT:C5130] synonym: "adenocystic carcinoma of the breast" EXACT [NCIT:C5130] synonym: "adenoid cystic breast cancer" RELATED [ONCOTREE:ACBC] synonym: "adenoid cystic breast carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "adenoid cystic breast carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "adenoid cystic breast carcinoma" EXACT [MONDO:0006072, NCIT:C5130] synonym: "adenoid cystic carcinoma of breast" EXACT [DOID:4877, NCIT:C5130] synonym: "adenoid cystic carcinoma of the breast" EXACT [NCIT:C5130] synonym: "breast adenoid cystic carcinoma" EXACT [DOID:4877, MONDO:patterns/location] synonym: "mammary adenocystic carcinoma" EXACT [DOID:4877, NCIT:C5130] synonym: "mammary adenoid cystic carcinoma" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "mammary adenoid cystic carcinoma" EXACT [MONDO:DesignPattern] xref: DOID:4877 {source="MONDO:equivalentTo"} xref: EFO:1000071 {source="MONDO:equivalentTo"} xref: MONDO:0003185 xref: NCIT:C5130 {source="DOID:4877", source="MONDO:equivalentTo", source="EFO:1000071"} xref: ONCOTREE:ACBC {source="MONDO:equivalentTo"} xref: UMLS:C1332167 {source="NCIT:C5130", source="DOID:4877", source="MONDO:equivalentTo"} is_a: EFO:0000231 {source="EFO:1000071", source="MONDO:Redundant", source="NCIT:C5130"} ! adenoid cystic carcinoma is_a: EFO:0000304 ! breast adenocarcinoma is_a: EFO:1000307 {source="NCIT:C5130", source="ONCOTREE:ACBC"} ! Invasive Breast Carcinoma property_value: exactMatch DOID:4877 property_value: exactMatch DOID:4877 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332167 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332167 property_value: exactMatch NCIT:C5130 property_value: exactMatch NCIT:C5130 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5166 xsd:anyURI [Term] id: EFO:1000072 name: Adenomatoid Odontogenic Tumor def: "A benign, slow growing neoplasm arising from tooth-forming tissues. The vast majority of cases are intraosseous and most often grow in the maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a connective tissue stroma. Local excision is curative and recurrences are very rare." [NCIT:P378] synonym: "adenomatoid odontogenic neoplasm" EXACT [NCIT:C4310] synonym: "adenomatoid odontogenic tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "adenomatoid odontogenic tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:1000072 {source="MONDO:equivalentTo"} xref: ICDO:9300/0 {source="NCIT:C4310"} xref: MESH:C538229 {source="MONDO:equivalentTo"} xref: MONDO:0006073 xref: NCIT:C4310 {source="MONDO:equivalentTo", source="EFO:1000072"} is_a: MONDO:0021445 {source="https://orcid.org/0000-0001-5208-3432"} ! benign neoplasm of oral cavity property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0334565 property_value: exactMatch http://identifiers.org/mesh/C538229 property_value: exactMatch http://identifiers.org/mesh/C538229 property_value: exactMatch NCIT:C4310 property_value: exactMatch NCIT:C4310 property_value: excluded_subClassOf MONDO:0005515 {source="EFO:1000072"} [Term] id: EFO:1000073 name: Adenosquamous Carcinoma def: "A carcinoma composed of malignant glandular cells and malignant squamous cells." [NCIT:C3727] synonym: "adenosquamous carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "adenosquamous carcinoma" EXACT [NCIT:C3727] synonym: "adenosquamous carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "adenosquamous carcinoma (morphologic abnormality)" EXACT [DOID:4830] synonym: "adenosquamous cell carcinoma" EXACT [DOID:4830] synonym: "carcinoma, adenosquamous, malignant" EXACT [NCIT:C3727] synonym: "mixed adenocarcinoma and epidermoid carcinoma" EXACT [NCIT:C3727] synonym: "mixed adenocarcinoma and epidermoid cell carcinoma" EXACT [NCIT:C3727] synonym: "mixed adenocarcinoma and squamous carcinoma" EXACT [DOID:4830, NCIT:C3727] synonym: "mixed adenocarcinoma and squamous cell carcinoma" EXACT [NCIT:C3727] xref: DOID:4830 {source="MONDO:equivalentTo"} xref: EFO:1000073 {source="MONDO:equivalentTo"} xref: ICDO:8560/3 {source="NCIT:C3727"} xref: MESH:D018196 {source="DOID:4830", source="MONDO:equivalentTo"} xref: MONDO:0006074 xref: NCIT:C3727 {source="EFO:1000073", source="DOID:4830", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C3727 {source="EFO:1000073", source="DOID:4830", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:403902008 {source="DOID:4830", source="MONDO:equivalentTo"} xref: UMLS:C0206623 {source="NCIT:C3727", source="DOID:4830", source="MONDO:equivalentTo"} is_a: EFO:0000707 {source="DOID:4830"} ! squamous cell carcinoma property_value: closeMatch http://identifiers.org/snomedct/59367005 property_value: exactMatch DOID:4830 property_value: exactMatch DOID:4830 property_value: exactMatch http://identifiers.org/mesh/D018196 property_value: exactMatch http://identifiers.org/mesh/D018196 property_value: exactMatch http://identifiers.org/snomedct/403902008 property_value: exactMatch http://identifiers.org/snomedct/403902008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206623 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206623 property_value: exactMatch NCIT:C3727 property_value: exactMatch NCIT:C3727 [Term] id: EFO:1000074 name: Adrenal Gland Myelolipoma def: "A benign soft tissue lesion arising from the adrenal gland. It is composed of mature adipose and hematopoietic/lymphoid tissues." [NCIT:C3736] synonym: "adrenal gland myelolipoma" EXACT [] {comment="preferred label from MONDO"} synonym: "adrenal gland myelolipoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "adrenal gland myelolipoma" EXACT [NCIT:C3736] synonym: "Myelolipoma" EXACT [NCIT:C3736] synonym: "MYELOLIPOMA, benign" EXACT [NCIT:C3736] xref: EFO:1000074 {source="MONDO:equivalentTo"} xref: ICDO:8870/0 {source="NCIT:C3736"} xref: MESH:D018209 {source="MONDO:equivalentTo"} xref: MONDO:0006075 xref: NCIT:C3736 {source="EFO:1000074", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C3736 {source="EFO:1000074", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:719049003 {source="MONDO:equivalentTo"} xref: UMLS:C0206635 {source="MONDO:equivalentTo", source="NCIT:C3736"} is_a: MONDO:0021511 {source="MONDO:Redundant"} ! benign neoplasm of adrenal gland property_value: exactMatch http://identifiers.org/mesh/D018209 property_value: exactMatch http://identifiers.org/mesh/D018209 property_value: exactMatch http://identifiers.org/snomedct/719049003 property_value: exactMatch http://identifiers.org/snomedct/719049003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206635 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206635 property_value: exactMatch NCIT:C3736 property_value: exactMatch NCIT:C3736 [Term] id: EFO:1000075 name: Adrenal Gland Neuroblastoma def: "A neuroblastoma arising from the adrenal gland." [NCIT:C4827] synonym: "adrenal gland neuroblastoma" EXACT [] {comment="preferred label from MONDO"} synonym: "adrenal gland neuroblastoma" EXACT [MONDO:patterns/location, NCIT:C4827] synonym: "adrenal neuroblastoma" EXACT [MONDO:0003605, NCIT:C4827] synonym: "neuroblastoma of adrenal" EXACT [NCIT:C4827] synonym: "neuroblastoma of adrenal gland" EXACT [DOID:5718, NCIT:C4827] synonym: "neuroblastoma of the adrenal" EXACT [NCIT:C4827] synonym: "neuroblastoma of the adrenal gland" EXACT [NCIT:C4827] xref: DOID:5718 {source="MONDO:equivalentTo"} xref: MONDO:0006076 xref: NCIT:C4827 {source="EFO:1000075", source="MONDO:equivalentTo", source="DOID:5718"} xref: NCIt:C4827 xref: SCTID:281562007 {source="MONDO:equivalentTo", source="DOID:5718"} xref: UMLS:C0559460 {source="NCIT:C4827", source="MONDO:equivalentTo", source="DOID:5718"} is_a: EFO:0007392 ! nervous system cancer is_a: MONDO:0000551 ! retroperitoneal neuroblastoma is_a: MONDO:0003606 {source="NCIT:C4827"} ! adrenal medulla cancer property_value: exactMatch DOID:5718 property_value: exactMatch http://identifiers.org/snomedct/281562007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0559460 property_value: exactMatch NCIT:C4827 [Term] id: EFO:1000076 name: Adrenal Medullary Hyperplasia def: "A hyperplasia that involves the adrenal medulla." [MONDO:patterns/location] def: "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C35838&ns=NCI_Thesaurus" [] synonym: "adrenal medulla hyperplasia" EXACT [MONDO:patterns/location] synonym: "adrenal medullary hyperplasia" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0006077 xref: NCIT:C35838 {source="EFO:1000076", source="MONDO:equivalentTo"} xref: NCIt:C35838 is_a: EFO:0000536 {source="EFO:1000076", source="MONDO:Redundant", source="NCIT:C35838/inferred"} ! hyperplasia is_a: EFO:0005539 ! adrenal gland disease property_value: exactMatch NCIT:C35838 [Term] id: EFO:1000077 name: AIDS-Related Primary Central Nervous System Lymphoma def: "A lymphoma (non-Hodgkin or Hodgkin) arising from the central nervous system and occurring in HIV-positive patients." [NCIT:P378] synonym: "AIDS related lymphoma of primary central nervous system" EXACT [NCIT:C8284] synonym: "AIDS related lymphoma of the primary central nervous system" EXACT [NCIT:C8284] synonym: "AIDS related primary central nervous system lymphoma" EXACT [NCIT:C8284] synonym: "AIDS related primary CNS lymphoma" EXACT [NCIT:C8284] synonym: "AIDS-related lymphoma of primary central nervous system" EXACT [NCIT:C8284] synonym: "AIDS-related lymphoma of the primary central nervous system" EXACT [NCIT:C8284] synonym: "AIDS-related primary central nervous system lymphoma" EXACT [] {comment="preferred label from MONDO"} synonym: "AIDS-related primary central nervous system lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "AIDS-related primary CNS lymphoma" EXACT [NCIT:C8284] xref: EFO:1000077 {source="MONDO:equivalentTo"} xref: MONDO:0006078 xref: NCIT:C8284 {source="EFO:1000077", source="MONDO:equivalentTo"} xref: UMLS:C0281241 {source="MONDO:equivalentTo", source="NCIT:C8284"} is_a: EFO:0000574 {source="EFO:1000077", source="NCIT:C8284/inferred"} ! lymphoma is_a: EFO:0009386 ! central nervous system disease is_a: MONDO:0017341 ! virus associated tumor relationship: disease_arises_from_feature EFO:0000765 ! AIDS property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0281241 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0281241 property_value: exactMatch NCIT:C8284 property_value: exactMatch NCIT:C8284 [Term] id: EFO:1000078 name: Ameloblastic Carcinoma def: "A rare, cytologically malignant ameloblastoma that may metastasize." [NCIT:C7492] subset: gard_rare {source="GARD:0011855"} subset: ordo_disease {source="Orphanet:314422"} synonym: "ameloblastic carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "ameloblastic carcinoma" EXACT [NCIT:C7492] synonym: "ameloblastic carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "odontoma, ameloblastic, malignant" EXACT [NCIT:C7492] xref: EFO:1000078 {source="MONDO:equivalentTo"} xref: GARD:0011855 {source="MONDO:equivalentTo"} xref: ICD10:C41.1 {source="Orphanet:314422", source="ORDO:314422/ntbt"} xref: MONDO:0006079 xref: NCIT:C7492 {source="EFO:1000078", source="MONDO:equivalentTo"} xref: Orphanet:314422 {source="MONDO:equivalentTo"} xref: UMLS:C1314678 {source="Orphanet:314422", source="MONDO:equivalentTo", source="Orphanet:314422/e", source="NCIT:C7492"} xref: UMLS:C1314678 {source="Orphanet:314422", source="MONDO:equivalentTo", source="ORDO:314422/e", source="NCIT:C7492"} is_a: EFO:1000218 ! Digestive System Carcinoma is_a: MONDO:0002038 {source="MONDO:Redundant", source="NCIT:C7492/inferred"} ! head and neck carcinoma is_a: MONDO:0002415 ! bone carcinoma is_a: MONDO:0021192 {source="Orphanet:314422"} ! odontogenic neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1314678 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1314678 property_value: exactMatch NCIT:C7492 property_value: exactMatch NCIT:C7492 property_value: exactMatch Orphanet:314422 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11855/ameloblastic-carcinoma xsd:anyURI {source="GARD:0011855"} [Term] id: EFO:1000079 name: Ampulla of Vater Carcinoma def: "A carcinoma arising from the ampulla of Vater. The vast majority of cases are adenocarcinomas. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss." [NCIT:C3908] subset: ordo_disease {source="Orphanet:300557"} synonym: "AMPCA" RELATED ABBREVIATION [ONCOTREE:AMPCA] synonym: "ampulla of Vater cancer" EXACT [NCIT:C3908] synonym: "ampulla of Vater carcinoma" EXACT [MONDO:0006080, NCIT:C3908] synonym: "ampullary cancer" EXACT [NCIT:C3908] synonym: "ampullary carcinoma" EXACT [NCIT:C3908, Orphanet:300557] synonym: "Ampulloma" EXACT [Orphanet:300557] synonym: "carcinoma of ampulla of vater" EXACT [DOID:4932] synonym: "carcinoma of hepatopancreatic ampulla" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of the ampulla of vater" EXACT [] {comment="preferred label from MONDO"} synonym: "carcinoma of the ampulla of vater" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "hepatopancreatic ampulla carcinoma" EXACT [MONDO:patterns/location] xref: DOID:4932 {source="MONDO:equivalentTo"} xref: EFO:1000079 {source="MONDO:equivalentTo"} xref: ICD10:C24.1 {source="ORDO:300557/ntbt", source="Orphanet:300557"} xref: MedDRA:10048853 {source="ORDO:300557/e", source="Orphanet:300557"} xref: MedDRA:10048853 {source="Orphanet:300557", source="Orphanet:300557/e"} xref: MONDO:0017590 xref: NCIT:C3908 {source="DOID:4932", source="MONDO:equivalentTo", source="EFO:1000079"} xref: ONCOTREE:AMPCA {source="MONDO:equivalentTo"} xref: Orphanet:300557 {source="MONDO:equivalentTo"} xref: SCTID:254609000 {source="DOID:4932", source="MONDO:equivalentTo"} xref: UMLS:C0262401 {source="ORDO:300557/e", source="DOID:4932", source="MONDO:equivalentTo", source="NCIT:C3908", source="Orphanet:300557"} xref: UMLS:C0262401 {source="DOID:4932", source="MONDO:equivalentTo", source="NCIT:C3908", source="Orphanet:300557", source="Orphanet:300557/e"} is_a: MONDO:0000919 {source="DOID:4932", source="MONDO:Redundant", source="NCIT:C3908"} ! ampulla of vater cancer is_a: MONDO:0003090 ! extrahepatic bile duct carcinoma is_a: MONDO:0021335 {source="MONDO:Redundant"} ! carcinoma of duodenum property_value: closeMatch http://identifiers.org/meddra/10048853 property_value: exactMatch DOID:4932 property_value: exactMatch DOID:4932 property_value: exactMatch http://identifiers.org/meddra/10048853 property_value: exactMatch http://identifiers.org/snomedct/254609000 property_value: exactMatch http://identifiers.org/snomedct/254609000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0262401 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0262401 property_value: exactMatch NCIT:C3908 property_value: exactMatch NCIT:C3908 property_value: exactMatch Orphanet:300557 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:1000080 name: Anal Melanoma def: "A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor." [NCIT:C4639] comment: Editor note: TODO relationship to mucosa synonym: "anal malignant melanoma" EXACT [NCIT:C4639] synonym: "anal melanoma" EXACT [] {comment="preferred label from MONDO"} synonym: "anal melanoma" EXACT [DOID:14145, NCIT:C4639] synonym: "anal melanoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "anus melanoma" EXACT [] synonym: "anus melanoma (disease)" EXACT [MONDO:patterns/location] synonym: "malignant anus melanoma" EXACT [MONDO:0001891] synonym: "malignant melanoma of anus" EXACT [NCIT:C4639] synonym: "malignant melanoma of the anus" EXACT [NCIT:C4639] synonym: "melanoma (disease) of anus" EXACT [] synonym: "melanoma of anus" EXACT [NCIT:C4639] synonym: "melanoma of the anus" EXACT [NCIT:C4639] xref: DOID:14145 {source="MONDO:equivalentTo"} xref: EFO:1000080 {source="MONDO:equivalentTo"} xref: MONDO:0006081 xref: NCIT:C4639 {source="DesignPattern", source="ONCOTREE:ARMM", source="MONDO:equivalentTo", source="DOID:14145", source="exact-label-match", source="EFO:1000080"} xref: NCIT:C4639 {source="ONCOTREE:ARMM", source="MONDO:equivalentTo", source="DOID:14145", source="MONDO:exact-label-match", source="EFO:1000080"} xref: ONCOTREE:ARMM {source="MONDO:equivalentTo"} xref: SCTID:276821000 {source="MONDO:equivalentTo", source="DOID:14145"} xref: SCTID:276821000 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:14145"} xref: UMLS:C0349538 {source="ONCOTREE:ARMM", source="NCIT:C4639", source="MONDO:equivalentTo", source="DOID:14145"} is_a: EFO:1001951 ! colorectal carcinoma is_a: MONDO:0001879 {source="DOID:14145", source="MONDO:Entailed", source="NCIT:C4639"} ! anus cancer is_a: MONDO:0002167 ! rectum malignant melanoma property_value: exactMatch DOID:14145 property_value: exactMatch DOID:14145 property_value: exactMatch http://identifiers.org/snomedct/276821000 property_value: exactMatch http://identifiers.org/snomedct/276821000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349538 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349538 property_value: exactMatch NCIT:C4639 property_value: exactMatch NCIT:C4639 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: excluded_subClassOf MONDO:0021118 {source="ONCOTREE:ARMM"} property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/melanoma.yaml [Term] id: EFO:1000081 name: Anal Squamous Cell Carcinoma def: "A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC." [NCIT:C9161] synonym: "anal squamous cell cancer" EXACT [NCIT:C9161] synonym: "anal squamous cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "anal squamous cell carcinoma" EXACT [NCIT:C9161] synonym: "anal squamous cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "ANSC" RELATED ABBREVIATION [ONCOTREE:ANSC] synonym: "anus squamous cell carcinoma" EXACT [MONDO:patterns/location] synonym: "epidermoid anal carcinoma" EXACT [DOID:5525, NCIT:C9161] synonym: "epidermoid carcinoma of anus" EXACT [NCIT:C9161] synonym: "epidermoid carcinoma of the anus" EXACT [NCIT:C9161] synonym: "squamous cell anal carcinoma" EXACT [NCIT:C9161] synonym: "squamous cell carcinoma - anus" EXACT [NCIT:C9161] synonym: "squamous cell carcinoma of anus" EXACT [NCIT:C9161] synonym: "squamous cell carcinoma of the anus" EXACT [NCIT:C9161] xref: DOID:5525 {source="MONDO:equivalentTo"} xref: EFO:1000081 {source="MONDO:equivalentTo"} xref: MONDO:0006082 xref: NCIT:C9161 {source="MONDO:equivalentTo", source="DOID:5525", source="MONDO:exact-label-match", source="EFO:1000081"} xref: NCIT:C9161 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:5525", source="EFO:1000081", source="exact-label-match"} xref: ONCOTREE:ANSC {source="MONDO:equivalentTo"} xref: UMLS:C1412036 {source="MONDO:equivalentTo", source="DOID:5525", source="NCIT:C9161"} is_a: MONDO:0003199 {source="DOID:5525", source="MONDO:Redundant", source="NCIT:C9161"} ! anal carcinoma is_a: MONDO:0018515 ! squamous cell carcinoma of rectum property_value: exactMatch DOID:5525 property_value: exactMatch DOID:5525 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1412036 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1412036 property_value: exactMatch NCIT:C9161 property_value: exactMatch NCIT:C9161 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/squamous_cell_carcinoma.yaml [Term] id: EFO:1000082 name: Anaplastic (Malignant) Meningioma def: "A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields)." [] xref: NCIt:C4051 is_a: EFO:0003851 ! meningeal neoplasm relationship: EFO:0000784 UBERON:0002360 ! has_disease_location meninx [Term] id: EFO:1000083 name: Anaplastic Large Cell Lymphoma, ALK-Negative def: "ALK-negative anaplastic large cell lymphoma (ALK- ALCL) is a type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the lack of expression of a protein called anaplastic lymphoma kinase (ALK)." [Orphanet:300903] subset: ordo_histopathological_subtype {source="Orphanet:300903"} synonym: "ALCL, ALK-" EXACT [NCIT:C37194] synonym: "ALK- ALCL" EXACT [Orphanet:300903] synonym: "ALK- anaplastic large cell lymphoma" EXACT [Orphanet:300903] synonym: "ALK-negative anaplastic large cell lymphoma" EXACT [] {comment="preferred label from MONDO"} synonym: "ALK-negative anaplastic large cell lymphoma" EXACT [NCIT:C37194] synonym: "ALK-negative anaplastic large cell lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "anaplastic large cell lymphoma, ALK-negative" EXACT [MONDO:0006083, NCIT:C37194] xref: EFO:1000083 {source="MONDO:equivalentTo"} xref: ICD10:C84.7 {source="Orphanet:300903", source="ORDO:300903/e"} xref: ICDO:9702/3 {source="NCIT:C37194"} xref: MONDO:0017603 xref: NCIT:C37194 {source="MONDO:equivalentTo", source="EFO:1000083"} xref: Orphanet:300903 {source="MONDO:equivalentTo"} xref: UMLS:C1332078 {source="MONDO:equivalentTo", source="Orphanet:300903", source="ORDO:300903/e", source="NCIT:C37194"} xref: UMLS:C1332078 {source="Orphanet:300903/e", source="MONDO:equivalentTo", source="Orphanet:300903", source="NCIT:C37194"} is_a: EFO:0003032 {source="EFO:1000083", source="NCIT:C37194", source="Orphanet:300903"} ! anaplastic large cell lymphoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332078 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332078 property_value: exactMatch NCIT:C37194 property_value: exactMatch NCIT:C37194 property_value: exactMatch Orphanet:300903 [Term] id: EFO:1000084 name: Angioleiomyoma def: "A benign, slow-growing neoplasm that arises from the dermis or subcutaneous tissue. It is characterized by the presence of well-differentiated smooth muscle cells which are arranged around numerous vessels." [NCIT:C3747] synonym: "angioleiomyoma" EXACT [MONDO:0006084, NCIT:C3747] synonym: "angioleiomyoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "angioleiomyoma" EXACT [] {comment="preferred label from MONDO"} synonym: "angiomyoma" EXACT [NCIT:C3747] synonym: "angiomyoma (morphologic abnormality)" EXACT [DOID:4265] synonym: "vascular leiomyoma" EXACT [DOID:4265, NCIT:C3747] xref: DOID:4265 {source="EFO:1000806", source="MONDO:equivalentTo"} xref: EFO:1000084 {source="MONDO:equivalentTo"} xref: EFO:1000806 {source="MONDO:equivalentTo"} xref: ICDO:8894/0 {source="NCIT:C3747"} xref: MESH:D018229 {source="DOID:4265", source="EFO:1000806", source="MONDO:equivalentTo"} xref: MONDO:0006646 xref: NCIT:C3747 {source="DOID:4265", source="EFO:1000084", source="EFO:1000806", source="MONDO:equivalentTo"} xref: UMLS:C0206653 {source="DOID:4265", source="MONDO:equivalentTo", source="NCIT:C3747"} is_a: EFO:0010285 ! integumentary system disease is_a: MONDO:0003342 {source="NCIT:C3747"} ! benign perivascular tumor property_value: closeMatch http://identifiers.org/snomedct/86959002 property_value: exactMatch DOID:4265 property_value: exactMatch DOID:4265 property_value: exactMatch http://identifiers.org/mesh/D018229 property_value: exactMatch http://identifiers.org/mesh/D018229 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206653 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206653 property_value: exactMatch NCIT:C3747 property_value: exactMatch NCIT:C3747 property_value: excluded_subClassOf MONDO:0001572 {source="DOID:4265"} [Term] id: EFO:1000085 name: Angiolipoma def: "A lipoma with prominent vascularity. The vascular tissue is more abundant at the periphery of the tumor and contains fibrin thrombi. It occurs more frequently in younger individuals as a painful subcutaneous nodule, often on the arms." [NCIT:P378] synonym: "angiolipoma" EXACT [] {comment="preferred label from MONDO"} synonym: "angiolipoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "angiolipoma, benign" EXACT [NCIT:C3733] xref: DOID:3616 {source="MONDO:equivalentTo"} xref: EFO:1000085 {source="MONDO:equivalentTo"} xref: ICDO:8861/0 {source="NCIT:C3733"} xref: MESH:D018206 {source="MONDO:equivalentTo", source="DOID:3616"} xref: MONDO:0006085 xref: NCIT:C3733 {source="EFO:1000085", source="MONDO:equivalentTo", source="DOID:3616"} xref: SCTID:404057003 {source="MONDO:equivalentTo", source="DOID:3616"} xref: UMLS:C0206632 {source="MONDO:equivalentTo", source="DOID:3616", source="NCIT:C3733"} is_a: EFO:0000759 {source="DOID:3616", source="EFO:1000085", source="NCIT:C3733"} ! lipoma property_value: closeMatch http://identifiers.org/snomedct/189780003 property_value: closeMatch http://identifiers.org/snomedct/73219006 property_value: exactMatch DOID:3616 property_value: exactMatch DOID:3616 property_value: exactMatch http://identifiers.org/mesh/D018206 property_value: exactMatch http://identifiers.org/mesh/D018206 property_value: exactMatch http://identifiers.org/snomedct/404057003 property_value: exactMatch http://identifiers.org/snomedct/404057003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206632 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206632 property_value: exactMatch NCIT:C3733 property_value: exactMatch NCIT:C3733 [Term] id: EFO:1000086 name: Angiomatous Meningioma def: "A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells." [] xref: NCIt:C4332 is_a: EFO:0003851 ! meningeal neoplasm relationship: EFO:0000784 UBERON:0002360 ! has_disease_location meninx [Term] id: EFO:1000087 name: Angiomyxoma def: "A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells in a myxoid stroma." [NCIT:P378] def: "A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells, and vascular proliferation in a myxoid stroma." [NCIT:C3254] synonym: "angiomyxoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "angiomyxoma" EXACT [] {comment="preferred label from MONDO"} xref: EFO:1000087 {source="MONDO:equivalentTo"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:8841/0 {source="NCIT:C3254"} xref: ICDO:8841/1 {source="NCIT:C3254"} xref: MESH:D009232 {source="MONDO:equivalentTo"} xref: MONDO:0006086 xref: NCIT:C3254 {source="EFO:1000087", source="MONDO:equivalentTo"} xref: SCTID:404083008 {source="MONDO:equivalentTo"} xref: UMLS:C0027149 {source="MONDO:equivalentTo"} is_a: MONDO:0021581 {source="MESH:D009232", source="MONDO:indirect"} ! connective tissue neoplasm is_a: MONDO:0044335 {source="NCIT:C3254/inferred"} ! benign soft tissue neoplasm property_value: exactMatch http://identifiers.org/mesh/D009232 property_value: exactMatch http://identifiers.org/snomedct/404083008 property_value: exactMatch http://identifiers.org/snomedct/404083008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027149 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027149 property_value: exactMatch NCIT:C3254 property_value: exactMatch NCIT:C3254 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5537 xsd:anyURI [Term] id: EFO:1000088 name: Appendix Adenocarcinoma def: "A carcinoma that arises from glandular epithelial cells of the vermiform appendix." [MONDO:DesignPattern] def: "A carcinoma that arises from glandular epithelial cells of the vermiform appendix." [https://orcid.org/0000-0002-6601-2165] synonym: "adenocarcinoma of appendix" EXACT [DOID:3608, NCIT:C7718] synonym: "adenocarcinoma of the appendix" EXACT [NCIT:C7718] synonym: "APAD" RELATED ABBREVIATION [ONCOTREE:APAD] synonym: "appendiceal adenocarcinoma" EXACT [DOID:3608, NCIT:C7718] synonym: "appendix adenocarcinoma" EXACT [NCIT:C7718] synonym: "appendix adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "appendix adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "vermiform appendix adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:3608 {source="MONDO:equivalentTo"} xref: EFO:1000088 {source="MONDO:equivalentTo"} xref: GARD:0010564 {source="MONDO:equivalentTo"} xref: MONDO:0006087 xref: NCIT:C7718 {source="EFO:1000088", source="MONDO:equivalentTo", source="exact-label-match", source="DOID:3608"} xref: NCIT:C7718 {source="EFO:1000088", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3608"} xref: ONCOTREE:APAD {source="MONDO:equivalentTo"} xref: SCTID:413445002 {source="MONDO:equivalentTo", source="DOID:3608"} xref: UMLS:C0238003 {source="MONDO:equivalentTo", source="NCIT:C7718", source="DOID:3608"} is_a: EFO:1000020 ! cecum adenocarcinoma is_a: MONDO:0003196 {source="DOID:3608", source="MONDO:Redundant", source="NCIT:C7718"} ! appendix carcinoma property_value: exactMatch DOID:3608 property_value: exactMatch DOID:3608 property_value: exactMatch http://identifiers.org/snomedct/413445002 property_value: exactMatch http://identifiers.org/snomedct/413445002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238003 property_value: exactMatch NCIT:C7718 property_value: exactMatch NCIT:C7718 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/adenocarcinoma.yaml [Term] id: EFO:1000089 name: Appendix Adenoma def: "A circumscribed neoplasm arising from the glandular epithelium of the appendix. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe." [NCIT:C43550] synonym: "appendix adenoma" EXACT [NCIT:C43550] synonym: "appendix adenoma" EXACT [] {comment="preferred label from MONDO"} synonym: "appendix adenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "vermiform appendix adenoma" EXACT [MONDO:patterns/location] xref: EFO:1000089 {source="MONDO:equivalentTo"} xref: MONDO:0006088 xref: NCIT:C43550 {source="EFO:1000089", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C43550 {source="EFO:1000089", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1706829 {source="MONDO:equivalentTo", source="NCIT:C43550"} is_a: MONDO:0000527 ! colon adenoma is_a: MONDO:0018511 ! epithelial tumor of the appendix property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1706829 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1706829 property_value: exactMatch NCIT:C43550 property_value: exactMatch NCIT:C43550 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/adenoma.yaml [Term] id: EFO:1000090 name: Appendix Goblet Cell Carcinoid def: "An invasive mixed adenoneuroendocrine carcinoma of the appendix characterized by a submucosal growth and the presence of neoplastic signet-ring cells resembling goblet cells of the intestine." [NCIT:C3689] synonym: "appendix adenocarcinoid tumor" EXACT [NCIT:C3689] synonym: "appendix goblet cell carcinoid" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "appendix goblet cell carcinoid tumor" EXACT [NCIT:C3689] synonym: "appendix mixed carcinoid-adenocarcinoma" EXACT [NCIT:C3689] synonym: "goblet cell carcinoid of appendix" EXACT [] synonym: "goblet cell carcinoid of the appendix" EXACT [] synonym: "goblet cell carcinoid tumor" EXACT [NCIT:C3689] synonym: "mucinous carcinoid tumor" EXACT [NCIT:C3689] xref: EFO:1000090 {source="MONDO:equivalentTo"} xref: ICDO:8243/3 {source="NCIT:C3689"} xref: NCIT:C3689 {source="MONDO:equivalentTo", source="EFO:1000090", source="exact-label-match"} xref: ONCOTREE:GCCAP {source="MONDO:equivalentTo"} is_a: EFO:1000021 ! cecum carcinoma property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0205695 property_value: exactMatch NCIT:C3689 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql [Term] id: EFO:1000091 name: Appendix Hyperplastic Polyp def: "A non-neoplastic polyp that arises from the appendix. It is characterized by the presence of elongated serrated crypts and the absence of atypia or dysplasia." [NCIT:P378] synonym: "appendix hyperplastic polyp" EXACT [] {comment="preferred label from MONDO"} synonym: "appendix metaplastic polyp" EXACT [NCIT:C96416] synonym: "vermiform appendix hyperplastic polyp" EXACT [MONDO:patterns/location] xref: MONDO:0006090 xref: NCIT:C96416 {source="MONDO:equivalentTo", source="EFO:1000091"} xref: NCIt:C96416 xref: UMLS:C3272761 {source="NCIT:C96416", source="MONDO:equivalentTo"} is_a: EFO:0009542 ! disorder of appendix is_a: EFO:1000299 {source="MONDO:Redundant", source="NCIT:C96416"} ! Hyperplastic Polyp is_a: MONDO:0021392 ! polyp of large intestine property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3272761 property_value: exactMatch NCIT:C96416 [Term] id: EFO:1000092 name: Appendix Neuroendocrine Tumor G1 def: "A well differentiated, low grade tumor with neuroendocrine differentiation that arises from the appendix. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:P378] synonym: "appendiceal carcinoid tumor" EXACT [NCIT:C4138] synonym: "appendiceal carcinoid tumour" EXACT OMO:0003005 [] synonym: "appendix carcinoid endocrine tumor" RELATED [DOID:0050911] synonym: "appendix carcinoid endocrine tumour" RELATED OMO:0003005 [] synonym: "appendix carcinoid endocrine tumour" RELATED [DOID:0050911] synonym: "appendix carcinoid tumor" EXACT [MONDO:0000526] synonym: "appendix carcinoid tumour" EXACT OMO:0003005 [] synonym: "appendix NET G1" EXACT [NCIT:C4138] synonym: "appendix NET G1 (carcinoid)" EXACT [NCIT:C4138] synonym: "appendix neuroendocrine tumor G1" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "appendix neuroendocrine tumor G1" EXACT [] {comment="preferred label from MONDO"} synonym: "appendix neuroendocrine tumor G1 (carcinoid)" EXACT [NCIT:C4138] synonym: "appendix neuroendocrine tumour G1 (carcinoid)" EXACT OMO:0003005 [] synonym: "carcinoid tumor of appendix" EXACT [NCIT:C4138] synonym: "carcinoid tumor of the appendix" EXACT [NCIT:C4138] synonym: "carcinoid tumour of appendix" EXACT OMO:0003005 [] synonym: "carcinoid tumour of the appendix" EXACT OMO:0003005 [] synonym: "grade 1 neuroendocrine neoplasm of vermiform appendix" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "vermiform appendix carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "vermiform appendix carcinoid tumor (disease)" EXACT [MONDO:patterns/location] synonym: "vermiform appendix carcinoid tumour" EXACT OMO:0003005 [] synonym: "vermiform appendix carcinoid tumour (disease)" EXACT OMO:0003005 [] synonym: "vermiform appendix NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "vermiform appendix neuroendocrine neoplasm G1" EXACT [] synonym: "vermiform appendix neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] xref: COHD:437238 {source="MONDO:equivalentTo"} xref: DOID:0050911 {source="MONDO:equivalentTo"} xref: EFO:1000092 {source="MONDO:equivalentTo"} xref: ICD9:209.11 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:209.11 {source="MONDO:equivalentTo", source="i2s"} xref: ICDO:8240/1 {source="NCIT:C4138"} xref: MONDO:0006091 xref: NCIT:C4138 {source="MONDO:equivalentTo", source="EFO:1000092"} xref: SCTID:253002004 {source="MONDO:equivalentTo"} xref: UMLS:C0334298 {source="MONDO:equivalentTo", source="NCIT:C4138"} is_a: EFO:1000154 ! Cecum Neuroendocrine Tumor G1 is_a: MONDO:0015066 {source="MONDO:Redundant", source="NCIT:C4138"} ! neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade property_value: exactMatch DOID:0050911 property_value: exactMatch DOID:0050911 property_value: exactMatch http://identifiers.org/snomedct/253002004 property_value: exactMatch http://identifiers.org/snomedct/253002004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334298 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334298 property_value: exactMatch NCIT:C4138 property_value: exactMatch NCIT:C4138 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: excluded_subClassOf MONDO:0001235 {source="DOID:0050911"} property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/neuroendocrine_neoplasm_grade1.yaml [Term] id: EFO:1000093 name: Appendix Villous Adenoma def: "An adenoma arising from the appendix. It is characterized by the presence of villous epithelial structures and it is associated with dysplasia." [NCIT:C5512] synonym: "appendix villous adenoma" EXACT [] {comment="preferred label from MONDO"} synonym: "appendix villous adenoma" EXACT [NCIT:C5512] synonym: "appendix villous adenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "vermiform appendix villous adenoma" EXACT [MONDO:patterns/location] synonym: "villous adenoma of appendix" EXACT [NCIT:C5512] synonym: "villous adenoma of the appendix" EXACT [NCIT:C5512] xref: EFO:1000093 {source="MONDO:equivalentTo"} xref: MONDO:0006092 xref: NCIT:C5512 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000093"} xref: NCIT:C5512 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000093"} xref: UMLS:C1332329 {source="MONDO:equivalentTo", source="NCIT:C5512"} is_a: EFO:1000089 {source="MONDO:Redundant", source="NCIT:C5512"} ! Appendix Adenoma is_a: EFO:1000155 ! Cecum Villous Adenoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332329 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332329 property_value: exactMatch NCIT:C5512 property_value: exactMatch NCIT:C5512 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql [Term] id: EFO:1000094 name: Ascending Colon Neuroendocrine Tumor G1 def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ascending colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:C6427] synonym: "ascending colon carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1, NCIT:C6427] synonym: "ascending colon carcinoid tumor (disease)" EXACT [MONDO:patterns/location] synonym: "ascending colon carcinoid tumour" EXACT OMO:0003005 [] synonym: "ascending colon carcinoid tumour (disease)" EXACT OMO:0003005 [] synonym: "ascending colon NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1, NCIT:C6427] synonym: "ascending colon neuroendocrine neoplasm G1" EXACT [] synonym: "ascending colon neuroendocrine tumor G1" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "ascending colon neuroendocrine tumor G1" EXACT [NCIT:C6427] synonym: "ascending colon neuroendocrine tumor G1" EXACT [] {comment="preferred label from MONDO"} synonym: "ascending colon neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "carcinoid tumor of ascending colon" EXACT [NCIT:C6427] synonym: "carcinoid tumor of the ascending colon" EXACT [NCIT:C6427] synonym: "carcinoid tumour of ascending colon" EXACT OMO:0003005 [] synonym: "carcinoid tumour of the ascending colon" EXACT OMO:0003005 [] synonym: "grade 1 neuroendocrine neoplasm of ascending colon" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] xref: EFO:1000094 {source="MONDO:equivalentTo"} xref: MONDO:0006093 xref: NCIT:C6427 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000094"} xref: NCIT:C6427 {source="DesignPattern", source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000094"} xref: UMLS:C1332340 {source="MONDO:equivalentTo", source="NCIT:C6427"} is_a: EFO:1000188 {source="MONDO:Redundant", source="NCIT:C6427"} ! Colon Neuroendocrine Tumor G1 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332340 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332340 property_value: exactMatch NCIT:C6427 property_value: exactMatch NCIT:C6427 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/neuroendocrine_neoplasm_grade1.yaml [Term] id: EFO:1000095 name: Askin Tumor def: "A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma." [NCIT:C7542] comment: Editor note: in DO this is classified as Ewing sarcoma but we follow NCIT in placing as sibling synonym: "Askin tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "Askin tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "Askin tumor" EXACT [NCIT:C7542] synonym: "Askin's tumor" EXACT [DOID:0050608, NCIT:C7542] synonym: "Askin's tumour" EXACT OMO:0003005 [] synonym: "peripheral neuroectodermal tumor of thoracopulmonary region" EXACT [NCIT:C7542] synonym: "peripheral neuroectodermal tumour of thoracopulmonary region" EXACT OMO:0003005 [] synonym: "PNET of thoracopulmonary region" EXACT [NCIT:C7542] synonym: "small cell tumor of thoracopulmonary region" EXACT [NCIT:C7542] synonym: "small cell tumour of thoracopulmonary region" EXACT OMO:0003005 [] xref: DOID:0050608 {source="MONDO:equivalentTo"} xref: EFO:1000095 {source="MONDO:equivalentTo"} xref: ICDO:9365/3 {source="NCIT:C7542"} xref: MESH:C563168 {source="MONDO:equivalentTo"} xref: MONDO:0006094 xref: NCIT:C7542 {source="EFO:1000095", source="MONDO:equivalentTo"} xref: UMLS:C0877849 {source="NCIT:C7542", source="MONDO:equivalentTo"} is_a: MONDO:0003274 ! thoracic cancer is_a: MONDO:0018271 {source="NCIT:C7542"} ! peripheral primitive neuroectodermal tumor property_value: exactMatch DOID:0050608 property_value: exactMatch DOID:0050608 property_value: exactMatch http://identifiers.org/mesh/C563168 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0877849 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0877849 property_value: exactMatch NCIT:C7542 property_value: exactMatch NCIT:C7542 [Term] id: EFO:1000096 name: Atrophy def: "Any weakening or degeneration, especially through lack of use." [] xref: MedDRA:10003694 xref: NCIt:C79748 is_a: GO:0008150 ! biological_process property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1000097 name: Atypical Carcinoid Tumor def: "A carcinoid tumor characterized by a high mitotic rate, often associated with the presence of necrosis and nuclear pleomorphism." [NCIT:C72074] synonym: "atypical carcinoid tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "atypical carcinoid tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "atypical carcinoid tumor" EXACT [NCIT:C72074] synonym: "malignant carcinoid tumor" EXACT [NCIT:C72074] synonym: "malignant carcinoid tumour" EXACT OMO:0003005 [] xref: COHD:40482859 {source="MONDO:equivalentTo"} xref: EFO:1000097 {source="MONDO:equivalentTo"} xref: MONDO:0006095 xref: NCIT:C72074 {source="EFO:1000097", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C72074 {source="EFO:1000097", source="MONDO:equivalentTo", source="exact-label-match"} xref: SCTID:445238008 {source="MONDO:equivalentTo"} xref: UMLS:C0391970 {source="MONDO:equivalentTo", source="NCIT:C72074"} xref: UMLS:C1266032 {source="MONDO:equivalentTo"} is_a: EFO:0004243 {source="EFO:1000097", source="NCIT:C72074"} ! carcinoid tumor property_value: exactMatch http://identifiers.org/snomedct/445238008 property_value: exactMatch http://identifiers.org/snomedct/445238008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0391970 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0391970 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266032 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266032 property_value: exactMatch NCIT:C72074 property_value: exactMatch NCIT:C72074 [Term] id: EFO:1000098 name: Atypical Endometrial Hyperplasia def: "An endometrial hyperplasia characterized by cytologic and architectural changes which may lead to endometrial carcinoma. Despite the atypical features and possible course, there is debate on whether to consider this a neoplasm. The relationship with endometrial intraepithelial neoplasia is also unclear." [NCIT:C4654] synonym: "atypical endometrial hyperplasia" EXACT [] {comment="preferred label from MONDO"} synonym: "atypical hyperplasia of endometrium" EXACT [NCIT:C4654] synonym: "atypical hyperplasia of the endometrium" EXACT [NCIT:C4654] synonym: "endometrial hyperplasia with atypia" EXACT [NCIT:C4654] xref: ICD9:621.33 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MONDO:0006096 xref: NCIT:C4654 {source="EFO:1000098", source="MONDO:equivalentObsolete", source="MONDO:exact-label-match"} xref: NCIt:C4654 xref: SCTID:277158007 {source="MONDO:equivalentTo"} xref: UMLS:C0349579 {source="MONDO:equivalentTo", source="NCIT:C4654"} is_a: EFO:0000536 {source="EFO:1000098", source="NCIT:C4654/inferred"} ! hyperplasia is_a: MONDO:0000931 ! endometrial disorder property_value: exactMatch http://identifiers.org/snomedct/277158007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349579 [Term] id: EFO:1000099 name: Atypical Lipomatous Tumor def: "An intermediate, locally aggressive lipomatous neoplasm. Microscopically, the adipose tissue contains large and pleomorphic lipoblasts, and is dissected by fibrous septa containing spindle cells. It requires a wide local excision, may recur locally, but never metastasizes." [NCIT:C6505] synonym: "ALT" EXACT ABBREVIATION [NCIT:C6505] synonym: "Atypical lipoma" EXACT [NCIT:C6505] synonym: "atypical lipomatous tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "atypical lipomatous tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "lipoma-like liposarcoma" EXACT [NCIT:C6505] synonym: "liposarcoma, well differentiated (morphologic abnormality)" EXACT [DOID:5690] synonym: "superficial well differentiated liposarcoma" EXACT [NCIT:C6505] synonym: "well differentiated liposarcoma" BROAD [NCIT:C6505] synonym: "well differentiated liposarcoma" EXACT [NCIT:C6505] synonym: "well differentiated liposarcoma of superficial soft tissue" EXACT [NCIT:C6505] xref: DOID:5690 {source="MONDO:equivalentTo"} xref: EFO:1000099 {source="MONDO:equivalentTo"} xref: ICDO:8850/1 {source="NCIT:C6505"} xref: MONDO:0006097 xref: NCIT:C4250 {source="MONDO:relatedTo", source="DOID:5690"} xref: NCIT:C6505 {source="EFO:1000099", source="MONDO:equivalentTo"} xref: UMLS:C1370889 {source="MONDO:relatedTo", source="DOID:5690"} is_a: MONDO:0021354 {source="NCIT:C6505/inferred", source="NCIT:C7630"} ! tumor of adipose tissue property_value: closeMatch http://identifiers.org/snomedct/28655007 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1266129 property_value: exactMatch DOID:5690 property_value: exactMatch DOID:5690 property_value: exactMatch NCIT:C6505 property_value: exactMatch NCIT:C6505 property_value: relatedMatch NCIT:C4250 [Term] id: EFO:1000100 name: Atypical Lobular Breast Hyperplasia def: "Lobular neoplasia characterized by lobular epithelial proliferation that does not completely fill the lobular unit of the breast." [NCIT:C4730] synonym: "ALH" EXACT ABBREVIATION [NCIT:C4730] synonym: "atypical breast lobular hyperplasia" EXACT [NCIT:C4730] synonym: "atypical lobular breast hyperplasia" EXACT [] {comment="preferred label from MONDO"} synonym: "atypical lobular breast hyperplasia" EXACT [NCIT:C4730] synonym: "atypical lobular hyperplasia" EXACT [NCIT:C4730] synonym: "atypical lobular hyperplasia of breast" EXACT [NCIT:C4730] synonym: "atypical lobular hyperplasia of the breast" EXACT [NCIT:C4730] xref: ICD9:610.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MONDO:0006098 xref: NCIT:C4730 {source="EFO:1000100", source="MONDO:equivalentTo"} xref: NCIt:C4730 xref: SCTID:450697004 {source="MONDO:equivalentTo"} is_a: EFO:0000536 {source="EFO:1000100", source="NCIT:C4730/inferred"} ! hyperplasia is_a: MONDO:0000653 ! integumentary system cancer is_a: MONDO:0002486 {source="NCIT:C4730"} ! lobular neoplasia property_value: exactMatch http://identifiers.org/snomedct/450697004 property_value: exactMatch NCIT:C4730 [Term] id: EFO:1000101 name: Atypical Meningioma def: "A WHO grade II meningioma characterized by the presence of an increased mitotic activity or at least three of the following morphologic features: small cells, high cellularity, prominent nucleoli, lack of architectural pattern, and necrosis." [] xref: NCIt:C4723 is_a: EFO:0003851 ! meningeal neoplasm relationship: EFO:0000784 UBERON:0002360 ! has_disease_location meninx [Term] id: EFO:1000102 name: B-Cell Prolymphocytic Leukemia def: "A neoplasm of prolymphocytes affecting the blood, bone marrow, and spleen. It is characterized by prolymphocytes exceeding 55% of the lymphoid cells in the blood and profound splenomegaly." [MESH:D054403] subset: ordo_disease {source="Orphanet:86852"} synonym: "B prolymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "B prolymphocytic leukemia" EXACT [NCIT:C4753] synonym: "B-cell prolymphocytic leukemia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "B-cell prolymphocytic leukemia" EXACT [MONDO:0006099, NCIT:C4753] synonym: "B-cell prolymphocytic leukemia" EXACT [] {comment="preferred label from MONDO"} synonym: "B-PLL" EXACT [Orphanet:86852] synonym: "BPLL" RELATED ABBREVIATION [ONCOTREE:BPLL] xref: DOID:0081041 {source="MONDO:equivalentTo"} xref: EFO:1000102 {source="MONDO:equivalentTo"} xref: ICD10:C91.3 {source="Orphanet:86852", source="ORDO:86852/ntbt"} xref: ICDO:9833/3 {source="NCIT:C4753"} xref: MESH:D054403 {source="ORDO:86852/e", source="Orphanet:86852", source="MONDO:equivalentTo"} xref: MESH:D054403 {source="Orphanet:86852", source="MONDO:equivalentTo", source="Orphanet:86852/e"} xref: MONDO:0019461 xref: NCIT:C4753 {source="EFO:1000102", source="MONDO:equivalentTo"} xref: ONCOTREE:BPLL {source="MONDO:equivalentTo"} xref: Orphanet:86852 {source="MONDO:equivalentTo"} xref: SCTID:277619001 {source="MONDO:equivalentTo"} xref: UMLS:C0475801 {source="Orphanet:86852", source="MONDO:equivalentTo", source="NCIT:C4753", source="Orphanet:86852/e"} xref: UMLS:C0475801 {source="ORDO:86852/e", source="Orphanet:86852", source="MONDO:equivalentTo", source="NCIT:C4753"} is_a: EFO:0000096 {source="NCIT:C4753", source="ONCOTREE:BPLL"} ! neoplasm of mature B-cells is_a: MONDO:0001023 {source="MESH:D054403", source="NCIT:C4753"} ! prolymphocytic leukemia is_a: MONDO:0017595 {source="Orphanet:86852"} ! aggressive B-cell non-Hodgkin lymphoma relationship: EFO:0000784 CL:0000945 ! has_disease_location lymphocyte of B lineage property_value: exactMatch DOID:0081041 property_value: exactMatch http://identifiers.org/mesh/D054403 property_value: exactMatch http://identifiers.org/mesh/D054403 property_value: exactMatch http://identifiers.org/snomedct/277619001 property_value: exactMatch http://identifiers.org/snomedct/277619001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0475801 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0475801 property_value: exactMatch NCIT:C4753 property_value: exactMatch NCIT:C4753 property_value: exactMatch Orphanet:86852 [Term] id: EFO:1000103 name: Bartholin Gland Carcinoma def: "A carcinoma that arises from the Bartholin gland. It usually affects women over fifty and presents with enlargement of the Bartholin gland. Various histologic subtypes have been identified and include adenocarcinoma, squamous cell carcinoma, adenoid cystic carcinoma, adenosquamous carcinoma, transitional cell carcinoma, and small cell carcinoma." [NCIT:C9055] synonym: "Bartholin gland cancer" EXACT [NCIT:C9055] synonym: "bartholin gland carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "bartholin gland carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "bartholin gland carcinoma" EXACT [DOID:3999, MONDO:ambiguous, NCIT:C9055] synonym: "Bartholin gland carcinoma (disease)" EXACT [MONDO:0006100] synonym: "Bartholin's gland cancer" EXACT [DOID:3999, NCIT:C9055] synonym: "Bartholin's gland carcinoma" EXACT [NCIT:C9055] synonym: "carcinoma of Bartholin's gland" EXACT [DOID:3999, NCIT:C9055] synonym: "carcinoma of major vestibular gland" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of the Bartholin's gland" EXACT [NCIT:C9055] synonym: "major vestibular gland carcinoma" EXACT [MONDO:patterns/location] xref: DOID:3999 {source="MONDO:equivalentTo"} xref: DOID:60003 {source="MONDO:equivalentTo"} xref: EFO:1000103 {source="MONDO:equivalentTo"} xref: HP:0030419 {source="MONDO:otherHierarchy"} xref: MONDO:0002829 xref: NCIT:C9055 {source="MONDO:equivalentTo", source="DOID:3999", source="EFO:1000103"} xref: SCTID:276876007 {source="MONDO:equivalentTo", source="DOID:3999"} xref: UMLS:C0349561 {source="MONDO:equivalentTo", source="DOID:3999", source="NCIT:C9055"} is_a: EFO:0002921 {source="DOID:3999", source="EFO:1000103", source="MONDO:Redundant", source="NCIT:C9055"} ! vulvar carcinoma is_a: MONDO:0000653 ! integumentary system cancer is_a: MONDO:0021114 {source="MONDO:Redundant", source="NCIT:C9055"} ! Bartholin gland neoplasm property_value: closeMatch http://identifiers.org/snomedct/399533005 property_value: exactMatch DOID:3999 property_value: exactMatch DOID:3999 property_value: exactMatch DOID:60003 property_value: exactMatch DOID:60003 property_value: exactMatch http://identifiers.org/snomedct/276876007 property_value: exactMatch http://identifiers.org/snomedct/276876007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349561 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349561 property_value: exactMatch NCIT:C9055 property_value: exactMatch NCIT:C9055 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:1000104 name: Bartholin Gland Squamous Cell Carcinoma def: "A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells." [NCIT:C40293] synonym: "bartholin gland squamous cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "bartholin gland squamous cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "bartholin gland squamous cell carcinoma" EXACT [NCIT:C40293] synonym: "Bartholin's gland squamous cell carcinoma" EXACT [DOID:6961, MONDO:0006101, NCIT:C40293] synonym: "major vestibular gland squamous cell carcinoma" EXACT [MONDO:patterns/location] xref: DOID:6961 {source="MONDO:equivalentTo"} xref: EFO:1000104 {source="MONDO:equivalentTo"} xref: MONDO:0004053 xref: NCIT:C40293 {source="DOID:6961", source="MONDO:equivalentTo", source="EFO:1000104"} xref: UMLS:C1511052 {source="DOID:6961", source="MONDO:equivalentTo", source="NCIT:C40293"} is_a: EFO:1000103 {source="DOID:6961", source="MONDO:Redundant", source="NCIT:C40293"} ! Bartholin Gland Carcinoma is_a: EFO:1000624 {source="DOID:6961", source="MONDO:Redundant", source="NCIT:C40293"} ! Vulvar Squamous Cell Carcinoma property_value: exactMatch DOID:6961 property_value: exactMatch DOID:6961 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511052 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511052 property_value: exactMatch NCIT:C40293 property_value: exactMatch NCIT:C40293 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/squamous_cell_carcinoma.yaml [Term] id: EFO:1000105 name: Basaloid Carcinoma def: "A malignant epithelial neoplasm characterized by the presence of neoplastic cells with hyperchromatic nuclei, small amount of cytoplasm, and peripheral nuclear palisading." [NCIT:C4121] synonym: "basaloid carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "basaloid carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "basaloid carcinoma" EXACT [NCIT:C4121] xref: EFO:1000105 {source="MONDO:equivalentTo"} xref: ICDO:8123/3 {source="NCIT:C4121"} xref: MONDO:0006102 xref: NCIT:C4121 {source="MONDO:equivalentTo", source="EFO:1000105"} is_a: EFO:0000313 {source="EFO:1000105", source="NCIT:C4121"} ! carcinoma relationship: EFO:0000784 CL:0000066 ! has_disease_location epithelial cell property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1704216 property_value: exactMatch NCIT:C4121 property_value: exactMatch NCIT:C4121 [Term] id: EFO:1000106 name: Benign Adrenal Gland Pheochromocytoma def: "A sporadic or familial pheochromocytoma that is confined to the adrenal gland and does not have any metastatic potential. The majority of cases are sporadic, and usually unilateral. Familial cases are usually bilateral." [NCIT:C48305] synonym: "adrenal gland pheochromocytoma, benign" EXACT [MONDO:patterns/benign] synonym: "benign adrenal gland pheochromocytoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "benign adrenal gland pheochromocytoma" EXACT [NCIT:C48305] synonym: "benign adrenal gland pheochromocytoma" EXACT [] {comment="preferred label from MONDO"} synonym: "pheochromocytoma, benign" EXACT [NCIT:C48305] xref: EFO:1000106 {source="MONDO:equivalentTo"} xref: MONDO:0006103 xref: NCIT:C48305 {source="MONDO:equivalentTo", source="EFO:1000106", source="MONDO:exact-label-match"} xref: NCIT:C48305 {source="MONDO:equivalentTo", source="EFO:1000106", source="exact-label-match"} is_a: EFO:0000239 {source="EFO:1000106", source="MONDO:Redundant", source="NCIT:C48305"} ! adrenal gland pheochromocytoma is_a: MONDO:0021468 {source="MONDO:Redundant", source="NCIT:C48305"} ! benign neoplasm of adrenal medulla is_a: MONDO:0036976 ! benign epithelial neoplasm is_a: MONDO:0056804 ! benign neoplasm of peripheral nervous system property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0474822 property_value: exactMatch NCIT:C48305 property_value: exactMatch NCIT:C48305 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/benign.yaml [Term] id: EFO:1000107 name: Benign Brain Neoplasm def: "A benign neoplasm that involves the brain." [MONDO:patterns/location] def: "A primary, slow growing, noninvasive neoplasm of the brain. In children, astrocytomas of the cerebellum represent relatively common benign brain neoplasms. In adults meningiomas, neurilemomas and pituitary tumors comprise the majority of benign tumors." [] synonym: "benign brain neoplasm" EXACT [NCIT:C4781] synonym: "benign brain tumor" EXACT [NCIT:C4781] synonym: "benign brain tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of brain" EXACT [] {comment="preferred label from MONDO"} synonym: "benign neoplasm of the brain" EXACT [NCIT:C4781] synonym: "benign tumor of brain" EXACT [NCIT:C4781] synonym: "benign tumor of the brain" EXACT [NCIT:C4781] synonym: "benign tumour of brain" EXACT OMO:0003005 [] synonym: "benign tumour of the brain" EXACT OMO:0003005 [] synonym: "brain benign neoplasm" EXACT [MONDO:patterns/location] synonym: "brain neoplasms, benign" EXACT [NCIT:C4781] xref: ICD10:D32 xref: ICD10:D33 xref: ICD9:225.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10004306 xref: MedDRA:10006129 xref: MONDO:0021451 xref: NCIT:C4781 {source="MONDO:equivalentTo"} xref: NCIt:C4781 xref: SCTID:92030004 {source="MONDO:equivalentTo"} is_a: EFO:0003833 {source="MONDO:Redundant", source="NCIT:C4781"} ! brain neoplasm is_a: MONDO:0000628 ! central nervous system organ benign neoplasm property_value: exactMatch http://identifiers.org/snomedct/92030004 property_value: exactMatch NCIT:C4781 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1000108 name: Benign Carotid Body Paraganglioma def: "A carotid body paraganglioma that is confined to the site of origin, without metastatic potential." [NCIT:C79950] synonym: "benign carotid body paraganglioma" EXACT [] {comment="preferred label from MONDO"} synonym: "benign carotid body paraganglioma" EXACT [NCIT:C79950] synonym: "benign carotid body paraganglioma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "benign chemodectoma" RELATED [NCIT:C79950] synonym: "carotid body paraganglioma, benign" EXACT [MONDO:patterns/benign] synonym: "chemodectoma, benign" RELATED [NCIT:C79950] xref: EFO:1000108 {source="MONDO:equivalentTo"} xref: MONDO:0006104 xref: NCIT:C79950 {source="MONDO:equivalentTo", source="NCIT:C79950", source="EFO:1000108"} xref: UMLS:C2698359 {source="MONDO:equivalentTo", source="NCIT:C79950"} is_a: MONDO:0000627 ! benign endocrine neoplasm is_a: MONDO:0021053 {source="MONDO:Redundant", source="NCIT:C79950"} ! carotid body paraganglioma is_a: MONDO:0024286 ! benign blood vessel neoplasm is_a: MONDO:0056804 ! benign neoplasm of peripheral nervous system is_a: Orphanet:271847 ! Genetic endocrine tumor property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2698359 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2698359 property_value: exactMatch NCIT:C79950 property_value: exactMatch NCIT:C79950 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/benign.yaml [Term] id: EFO:1000109 name: Benign Childhood Cerebral Neoplasm def: "A non-metastasizing neoplasm that arises from the cerebral hemispheres during childhood." [] xref: NCIt:C6219 is_a: EFO:0003833 ! brain neoplasm [Term] id: EFO:1000110 name: Benign Conjunctival Neoplasm def: "Abnormal growth of the cells of the conjunctiva without malignant characteristics." [NCIT:C3622] synonym: "benign conjunctiva neoplasm" EXACT [NCIT:C3622] synonym: "benign conjunctiva tumor" EXACT [NCIT:C3622] synonym: "benign conjunctiva tumour" EXACT OMO:0003005 [] synonym: "benign conjunctival neoplasm" EXACT [NCIT:C3622] synonym: "benign conjunctival neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "benign conjunctival tumor" EXACT [NCIT:C3622] synonym: "benign conjunctival tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of conjunctiva" EXACT [NCIT:C3622] synonym: "benign neoplasm of the conjunctiva" EXACT [NCIT:C3622] synonym: "benign tumor of conjunctiva" EXACT [NCIT:C3622] synonym: "benign tumor of the conjunctiva" EXACT [NCIT:C3622] synonym: "benign tumour of conjunctiva" EXACT OMO:0003005 [] synonym: "benign tumour of the conjunctiva" EXACT OMO:0003005 [] synonym: "conjunctiva benign neoplasm" EXACT [MONDO:patterns/location] xref: MONDO:0006105 xref: NCIT:C3622 {source="EFO:1000110", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIt:C3622 xref: SCTID:92068002 {source="MONDO:equivalentTo"} xref: UMLS:C0154025 {source="MONDO:equivalentTo", source="NCIT:C3622"} is_a: MONDO:0020204 {source="EFO:1000110", source="MONDO:Redundant", source="NCIT:C3622"} ! conjunctival tumor is_a: MONDO:0021454 {source="MONDO:Redundant", source="NCIT:C3622"} ! benign neoplasm of eye property_value: exactMatch http://identifiers.org/snomedct/92068002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154025 property_value: exactMatch NCIT:C3622 [Term] id: EFO:1000111 name: Benign Kidney Neoplasm def: "A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis." [] xref: MedDRA:10004336 xref: MedDRA:10056780 xref: NCIt:C4778 is_a: EFO:0003865 ! kidney neoplasm [Term] id: EFO:1000112 name: Benign Ovarian Brenner Tumor def: "A benign transitional cell tumor that arises from the ovary and is composed of a fibrotic stroma and nests of transitional cells without evidence of atypia. There is no evidence of invasion." [] xref: NCIt:C4746 is_a: EFO:0003893 ! ovarian neoplasm [Term] id: EFO:1000113 name: Benign Ovarian Endometrioid Tumor def: "A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of glands or cysts lined by benign endometrial-type cells. It includes endometrioid adenofibroma, endometrioid cystadenofibroma, and endometrioid cystadenoma." [] xref: NCIt:C40072 is_a: EFO:0003893 ! ovarian neoplasm is_a: EFO:0004230 ! endometrial neoplasm [Term] id: EFO:1000114 name: Benign Ovarian Mixed Epithelial Tumor def: "A non-metastasizing neoplasm that arises from the ovary and is composed of at least two of the following cell types, serous, mucinous, endometrioid, transitional, or clear cell." [] xref: NCIt:C7282 is_a: EFO:0003893 ! ovarian neoplasm [Term] id: EFO:1000115 name: Benign Ovarian Mucinous Tumor def: "A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of neoplastic epithelium that resembles the epithelium of the endocervix or gastrointestinal tract. It includes mucinous adenofibroma, mucinous cystadenofibroma, and mucinous cystadenoma." [] xref: NCIt:C40039 is_a: EFO:0003893 ! ovarian neoplasm [Term] id: EFO:1000116 name: Benign Ovarian Neoplasm def: "A non-metastasizing neoplasm that arises from the ovary. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, benign Brenner tumor, thecoma, and fibroma." [NCIT:P378] synonym: "benign neoplasm of ovary" EXACT [NCIT:C2895] synonym: "benign neoplasm of the ovary" EXACT [NCIT:C2895] synonym: "benign ovarian neoplasm" EXACT [NCIT:C2895] synonym: "benign ovarian tumor" EXACT [NCIT:C2895] synonym: "benign ovarian tumour" EXACT OMO:0003005 [] synonym: "benign tumor of ovary" EXACT [NCIT:C2895] synonym: "benign tumor of the ovary" EXACT [NCIT:C2895] synonym: "benign tumour of ovary" EXACT OMO:0003005 [] synonym: "benign tumour of the ovary" EXACT OMO:0003005 [] synonym: "ovarian benign neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "ovary benign neoplasm" EXACT [MONDO:patterns/location] xref: DOID:0060112 {source="MONDO:equivalentTo"} xref: ICD10:D27 xref: MedDRA:10033273 xref: MONDO:0000646 xref: NCIT:C2895 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIt:C2895 xref: SCTID:92260003 {source="MONDO:equivalentTo"} is_a: EFO:0003893 {source="MONDO:Redundant", source="NCIT:C2895"} ! ovarian neoplasm is_a: MONDO:0000624 {source="DOID:0060112", source="MONDO:Redundant", source="NCIT:C2895"} ! benign female reproductive system neoplasm property_value: exactMatch DOID:0060112 property_value: exactMatch http://identifiers.org/snomedct/92260003 property_value: exactMatch NCIT:C2895 [Term] id: EFO:1000117 name: Benign Ovarian Surface Epithelial-Stromal Tumor def: "A non-metastasizing neoplasm that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, and benign Brenner tumor." [] xref: NCIt:C4510 is_a: EFO:0003893 ! ovarian neoplasm [Term] id: EFO:1000118 name: Benign Renal Pelvis Neoplasm def: "A non-metastasizing neoplasm that arises from the renal pelvis. Urothelial papilloma is a representative example." [] xref: NCIt:C3616 is_a: EFO:0003865 ! kidney neoplasm [Term] id: EFO:1000119 name: Benign Salivary Gland Myoepithelioma def: "A rare benign tumor composed of sheets and islands of spindle, plasmacytoid, epithelioid, and clear cells that exhibit myoepithelial but not ductal differentiation. The average age of patients has been reported as 44 years. Clinically, these tumors present as asymptomatic masses. Discrimination between myoepithelioma and myoepithelial carcinoma is based primarily on the infiltrative growth of the latter." [] xref: NCIt:C5978 is_a: EFO:0003826 ! salivary gland neoplasm [Term] id: EFO:1000120 name: Benign Skin Appendage Neoplasm def: "A non-metastasizing neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands. Representative examples include cylindroma, hidrocystoma, hidradenoma, and sebaceoma." [] xref: NCIt:C4615 xref: OMIM:132600 is_a: EFO:0004198 ! skin neoplasm [Term] id: EFO:1000121 name: Benign Smooth Muscle Neoplasm def: "A benign mesenchymal neoplasm arising from smooth muscle tissue." [NCIT:C6510] synonym: "benign neoplasm of smooth muscle" EXACT [NCIT:C6510] synonym: "benign neoplasm of the smooth muscle" EXACT [NCIT:C6510] synonym: "benign smooth muscle neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "benign smooth muscle neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "benign smooth muscle neoplasm" EXACT [NCIT:C6510] synonym: "benign smooth muscle tumor" EXACT [NCIT:C6510] synonym: "benign smooth muscle tumour" EXACT OMO:0003005 [] synonym: "benign tumor of smooth muscle" EXACT [NCIT:C6510] synonym: "benign tumor of the smooth muscle" EXACT [NCIT:C6510] synonym: "benign tumour of smooth muscle" EXACT OMO:0003005 [] synonym: "benign tumour of the smooth muscle" EXACT OMO:0003005 [] synonym: "smooth muscle tissue benign neoplasm" EXACT [MONDO:patterns/location] xref: EFO:1000121 {source="MONDO:equivalentTo"} xref: MONDO:0006106 xref: NCIT:C6510 {source="EFO:1000121", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C6510 {source="EFO:1000121", source="MONDO:equivalentTo", source="exact-label-match"} xref: UMLS:C1332539 {source="MONDO:equivalentTo", source="NCIT:C6510"} is_a: EFO:1001185 {source="EFO:1000121", source="NCIT:C6510"} ! smooth muscle tumor is_a: MONDO:0003061 {source="MONDO:Redundant", source="NCIT:C6510"} ! benign muscle neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332539 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332539 property_value: exactMatch NCIT:C6510 property_value: exactMatch NCIT:C6510 property_value: http://purl.org/dc/terms/conformsTo benign:neoplasm.yaml [Term] id: EFO:1000122 name: Benign Thyroid Gland Neoplasm def: "A benign neoplasm arising from the thyroid gland." [NCIT:C3628] synonym: "benign neoplasm of the thyroid" EXACT [NCIT:C3628] synonym: "benign neoplasm of the thyroid gland" EXACT [NCIT:C3628] synonym: "benign neoplasm of thyroid" EXACT [NCIT:C3628] synonym: "benign neoplasm of thyroid gland" EXACT [NCIT:C3628] synonym: "benign neoplasm of thyroid glands" EXACT [NCIT:C3628] synonym: "benign thyroid gland neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "benign thyroid gland neoplasm" EXACT [NCIT:C3628] synonym: "benign thyroid gland neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "benign thyroid gland tumor" EXACT [NCIT:C3628] synonym: "benign thyroid gland tumour" EXACT OMO:0003005 [] synonym: "benign thyroid neoplasm" EXACT [NCIT:C3628] synonym: "benign thyroid tumor" EXACT [NCIT:C3628] synonym: "benign thyroid tumour" EXACT OMO:0003005 [] synonym: "benign tumor of the thyroid" EXACT [NCIT:C3628] synonym: "benign tumor of the thyroid gland" EXACT [NCIT:C3628] synonym: "benign tumor of thyroid" EXACT [NCIT:C3628] synonym: "benign tumor of thyroid gland" EXACT [NCIT:C3628] synonym: "benign tumour of the thyroid" EXACT OMO:0003005 [] synonym: "benign tumour of the thyroid gland" EXACT OMO:0003005 [] synonym: "benign tumour of thyroid" EXACT OMO:0003005 [] synonym: "benign tumour of thyroid gland" EXACT OMO:0003005 [] synonym: "thyroid gland benign neoplasm" EXACT [MONDO:patterns/location] synonym: "thyroid neoplasm, benign" EXACT [NCIT:C3628] xref: COHD:141249 {source="MONDO:equivalentTo"} xref: EFO:1000122 {source="MONDO:equivalentTo"} xref: ICD9:226 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:226 {source="MONDO:equivalentTo", source="i2s"} xref: MONDO:0006107 xref: NCIT:C3628 {source="EFO:1000122", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C3628 {source="EFO:1000122", source="MONDO:equivalentTo", source="exact-label-match"} xref: SCTID:92439006 {source="MONDO:equivalentTo"} xref: UMLS:C0154038 {source="NCIT:C3628", source="MONDO:equivalentTo"} is_a: EFO:0003841 {source="MONDO:Redundant", source="NCIT:C3628"} ! thyroid neoplasm is_a: MONDO:0000627 {source="MONDO:Redundant"} ! benign endocrine neoplasm property_value: exactMatch http://identifiers.org/snomedct/92439006 property_value: exactMatch http://identifiers.org/snomedct/92439006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154038 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154038 property_value: exactMatch NCIT:C3628 property_value: exactMatch NCIT:C3628 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo benign:neoplasm.yaml [Term] id: EFO:1000123 name: Bile Duct Adenoma def: "A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction." [NCIT:C2942] synonym: "adenoma of bile duct" EXACT [NCIT:C2942] synonym: "adenoma of the bile duct" EXACT [NCIT:C2942] synonym: "bile duct adenoma" EXACT [] {comment="preferred label from MONDO"} synonym: "bile duct adenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "bile duct adenoma" EXACT [MONDO:patterns/location, NCIT:C2942] synonym: "bile duct adenoma (morphologic abnormality)" EXACT [DOID:5381] synonym: "Cholangioadenoma" EXACT [DOID:5381, NCIT:C2942] synonym: "Cholangioma" EXACT [NCIT:C2942] synonym: "CHOLANGIOMA, benign" EXACT [NCIT:C2942] synonym: "Hepatocholangiocellular adenoma" EXACT [NCIT:C2942] synonym: "Hepatocholangioma" EXACT [NCIT:C2942] xref: DOID:5381 {source="MONDO:equivalentTo"} xref: EFO:1000123 {source="MONDO:equivalentTo"} xref: ICDO:8160/0 {source="NCIT:C2942"} xref: MESH:D002759 {source="MONDO:equivalentTo", source="DOID:5381"} xref: MONDO:0006108 xref: NCIT:C2942 {source="MONDO:equivalentTo", source="EFO:1000123", source="DOID:5381", source="exact-label-match"} xref: NCIT:C2942 {source="MONDO:equivalentTo", source="EFO:1000123", source="DOID:5381", source="MONDO:exact-label-match"} xref: SCTID:424091006 {source="MONDO:equivalentTo", source="DOID:5381"} xref: UMLS:C0008309 {source="MONDO:equivalentTo", source="DOID:5381", source="NCIT:C2942"} is_a: EFO:1000217 {source="NCIT:C2942"} ! Digestive System Adenoma is_a: MONDO:0021662 {source="MONDO:Redundant", source="NCIT:C2942"} ! bile duct neoplasm property_value: closeMatch http://identifiers.org/snomedct/189591008 property_value: closeMatch http://identifiers.org/snomedct/39471001 property_value: exactMatch DOID:5381 property_value: exactMatch DOID:5381 property_value: exactMatch http://identifiers.org/mesh/D002759 property_value: exactMatch http://identifiers.org/mesh/D002759 property_value: exactMatch http://identifiers.org/snomedct/424091006 property_value: exactMatch http://identifiers.org/snomedct/424091006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008309 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008309 property_value: exactMatch NCIT:C2942 property_value: exactMatch NCIT:C2942 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/adenoma.yaml [Term] id: EFO:1000124 name: Biphasic Mesothelioma def: "A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features." [NCIT:C4282] synonym: "biphasic mesothelioma" EXACT [NCIT:C4282] synonym: "malignant biphasic mesothelioma" EXACT [] {comment="preferred label from MONDO"} synonym: "malignant biphasic mesothelioma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "malignant biphasic mesothelioma" EXACT [MONDO:0003015, NCIT:C4282] synonym: "malignant biphasic mesothelioma, malignant" EXACT [MONDO:patterns/malignant] synonym: "malignant mixed mesothelioma" EXACT [NCIT:C4282] synonym: "mesothelioma, biphasic, malignant" EXACT [DOID:4486] synonym: "mesothelioma, biphasic, malignant (morphologic abnormality)" EXACT [DOID:4486] synonym: "mixed mesothelioma" EXACT [DOID:4486, NCIT:C4282] xref: DOID:4486 {source="MONDO:equivalentTo"} xref: EFO:1000124 {source="MONDO:equivalentTo"} xref: ICDO:9053/3 {source="NCIT:C4282"} xref: MONDO:0006109 xref: NCIT:C4282 {source="DOID:4486", source="EFO:1000124", source="MONDO:equivalentTo"} xref: UMLS:C0334515 {source="DOID:4486", source="NCIT:C4282", source="MONDO:equivalentTo"} is_a: EFO:1000355 {source="DOID:4486", source="NCIT:C4282/inferred"} ! Malignant Mesothelioma property_value: closeMatch http://identifiers.org/snomedct/30383009 property_value: exactMatch DOID:4486 property_value: exactMatch DOID:4486 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334515 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334515 property_value: exactMatch NCIT:C4282 property_value: exactMatch NCIT:C4282 [Term] id: EFO:1000125 name: Bladder Adenocarcinoma def: "A carcinoma that arises from glandular epithelial cells of the urinary bladder" [MONDO:DesignPattern] def: "A carcinoma that arises from glandular epithelial cells of the urinary bladder" [https://orcid.org/0000-0002-6601-2165] synonym: "adenocarcinoma of bladder" EXACT [NCIT:C4032] synonym: "adenocarcinoma of the bladder" EXACT [NCIT:C4032] synonym: "adenocarcinoma of the urinary bladder" EXACT [DOID:3711, NCIT:C4032] synonym: "adenocarcinoma of urinary bladder" EXACT [NCIT:C4032] synonym: "blad" RELATED [ONCOTREE:BLAD] synonym: "bladder adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "bladder adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "bladder adenocarcinoma" EXACT [MONDO:0006110, NCIT:C4032] synonym: "urinary bladder adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C4032] xref: DOID:3711 {source="MONDO:equivalentTo"} xref: EFO:1000125 {source="MONDO:equivalentTo"} xref: MONDO:0002751 xref: NCIT:C4032 {source="DOID:3711", source="MONDO:equivalentTo", source="EFO:1000125", source="MONDO:exact-label-match"} xref: NCIT:C4032 {source="DOID:3711", source="MONDO:equivalentTo", source="EFO:1000125", source="exact-label-match"} xref: ONCOTREE:BLAD {source="MONDO:equivalentTo"} xref: SCTID:255110003 {source="DOID:3711", source="MONDO:equivalentTo"} xref: UMLS:C0279682 {source="NCIT:C4032", source="DOID:3711", source="MONDO:equivalentTo"} is_a: EFO:0000228 {source="DOID:3711", source="EFO:1000125", source="MONDO:Redundant", source="NCIT:C4032"} ! adenocarcinoma is_a: MONDO:0004986 {source="DOID:3711", source="EFO:1000125", source="MONDO:Redundant", source="NCIT:C4032"} ! urinary bladder carcinoma property_value: closeMatch NCIT:C39836 property_value: exactMatch DOID:3711 property_value: exactMatch DOID:3711 property_value: exactMatch http://identifiers.org/snomedct/255110003 property_value: exactMatch http://identifiers.org/snomedct/255110003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279682 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279682 property_value: exactMatch NCIT:C4032 property_value: exactMatch NCIT:C4032 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/adenocarcinoma.yaml [Term] id: EFO:1000126 name: Bladder Flat Intraepithelial Lesion def: "A non-papillary neoplasm of the urinary bladder, whose classification categories include low-grade intraurothelial neoplasia and urothelial carcinoma in situ." [NCIT:C37266] synonym: "bladder flat intraepithelial lesion" EXACT [NCIT:C37266] synonym: "bladder flat intraepithelial lesion" EXACT [] {comment="preferred label from MONDO"} synonym: "bladder flat intraepithelial lesion" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "flat intraepithelial lesion of the bladder" EXACT [NCIT:C37266] synonym: "flat intraepithelial lesion of the urinary bladder" EXACT [DOID:5429, NCIT:C37266] synonym: "urinary bladder flat intraepithelial lesion" EXACT [NCIT:C37266] xref: DOID:5429 {source="MONDO:equivalentTo"} xref: EFO:1000126 {source="MONDO:equivalentTo"} xref: MONDO:0006111 xref: NCIT:C37266 {source="MONDO:equivalentTo", source="DOID:5429", source="EFO:1000126", source="exact-label-match"} xref: NCIT:C37266 {source="MONDO:equivalentTo", source="DOID:5429", source="EFO:1000126", source="MONDO:exact-label-match"} xref: UMLS:C1332559 {source="NCIT:C37266", source="MONDO:equivalentTo", source="DOID:5429"} is_a: EFO:0000294 {source="NCIT:C37266"} ! bladder tumor property_value: exactMatch DOID:5429 property_value: exactMatch DOID:5429 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332559 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332559 property_value: exactMatch NCIT:C37266 property_value: exactMatch NCIT:C37266 [Term] id: EFO:1000127 name: Bladder Inflammatory Myofibroblastic Tumor def: "A multinodular intermediate fibroblastic neoplasm arising from the bladder. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." [NCIT:C6177] synonym: "bladder inflammatory myofibroblastic neoplasm" EXACT [NCIT:C6177] synonym: "bladder inflammatory myofibroblastic tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "bladder inflammatory myofibroblastic tumor" EXACT [NCIT:C6177] synonym: "bladder inflammatory myofibroblastic tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "inflammatory myofibroblastic bladder tumor" RELATED [ONCOTREE:IMTB] synonym: "inflammatory myofibroblastic bladder tumour" RELATED OMO:0003005 [] synonym: "inflammatory myofibroblastic neoplasm of bladder" EXACT [NCIT:C6177] synonym: "inflammatory myofibroblastic neoplasm of the bladder" EXACT [NCIT:C6177] synonym: "inflammatory myofibroblastic neoplasm of the urinary bladder" EXACT [NCIT:C6177] synonym: "inflammatory myofibroblastic neoplasm of urinary bladder" EXACT [NCIT:C6177] synonym: "inflammatory myofibroblastic tumor of bladder" EXACT [NCIT:C6177] synonym: "inflammatory myofibroblastic tumor of the bladder" EXACT [NCIT:C6177] synonym: "inflammatory myofibroblastic tumor of the urinary bladder" EXACT [NCIT:C6177] synonym: "inflammatory myofibroblastic tumor of urinary bladder" EXACT [NCIT:C6177] synonym: "inflammatory myofibroblastic tumour of bladder" EXACT OMO:0003005 [] synonym: "inflammatory myofibroblastic tumour of the bladder" EXACT OMO:0003005 [] synonym: "inflammatory myofibroblastic tumour of the urinary bladder" EXACT OMO:0003005 [] synonym: "inflammatory myofibroblastic tumour of urinary bladder" EXACT OMO:0003005 [] synonym: "urinary bladder inflammatory myofibroblastic neoplasm" EXACT [NCIT:C6177] synonym: "urinary bladder inflammatory myofibroblastic tumor" EXACT [MONDO:patterns/location, NCIT:C6177] synonym: "urinary bladder inflammatory myofibroblastic tumour" EXACT OMO:0003005 [] xref: EFO:1000127 {source="MONDO:equivalentTo"} xref: MONDO:0006112 xref: NCIT:C6177 {source="MONDO:equivalentTo", source="EFO:1000127", source="exact-label-match"} xref: NCIT:C6177 {source="MONDO:equivalentTo", source="EFO:1000127", source="MONDO:exact-label-match"} xref: ONCOTREE:IMTB {source="MONDO:equivalentTo"} xref: UMLS:C1336891 {source="NCIT:C6177", source="MONDO:equivalentTo"} is_a: EFO:0000294 {source="MONDO:Redundant", source="NCIT:C6177"} ! bladder tumor is_a: MONDO:0015798 {source="MONDO:Redundant", source="NCIT:C6177"} ! inflammatory myofibroblastic tumor property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336891 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336891 property_value: exactMatch NCIT:C6177 property_value: exactMatch NCIT:C6177 [Term] id: EFO:1000128 name: Bladder Paraganglioma def: "A benign or malignant extra-adrenal sympathetic paraganglioma arising from the urinary bladder. Clinical signs include hypertension and hematuria." [] xref: NCIt:C6414 is_a: EFO:0000489 ! extra-adrenal sympathetic paraganglioma [Term] id: EFO:1000129 name: Bladder Small Cell Neuroendocrine Carcinoma def: "A highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ." [NCIT:C9461] subset: gard_rare {source="GARD:0011923"} subset: ordo_disease {source="Orphanet:284400"} synonym: "bladder small cell neuroendocrine cancer" EXACT [NCIT:C9461] synonym: "bladder small cell neuroendocrine carcinoma" EXACT [MONDO:0006113, NCIT:C9461] synonym: "poorly differentiated neuroendocrine carcinoma of the bladder" EXACT [Orphanet:284400] synonym: "SCCB" EXACT ABBREVIATION [Orphanet:284400] synonym: "small cell bladder cancer" EXACT [Orphanet:284400] synonym: "small cell bladder carcinoma" EXACT [Orphanet:284400] synonym: "small cell carcinoma of the bladder" RELATED [Orphanet:284400] synonym: "small cell carcinoma of the urinary bladder" EXACT [Orphanet:284400] synonym: "small cell carcinoma of urinary bladder" EXACT [MONDO:design_pattern] synonym: "small cell neuroendocrine carcinoma of the urinary bladder" EXACT [DOID:7132, NCIT:C9461] synonym: "small cell neuroendocrine carcinoma of urinary bladder" EXACT [NCIT:C9461] synonym: "small cell/neuroendocrine carcinoma of urinary bladder" EXACT [DOID:7132, NCIT:C9461] synonym: "urinary bladder small cell carcinoma" EXACT [MONDO:patterns/location] synonym: "urinary bladder small cell neuroendocrine carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "urinary bladder small cell neuroendocrine carcinoma" EXACT [] {comment="preferred label from MONDO"} xref: DOID:7132 {source="MONDO:equivalentTo"} xref: EFO:1000129 {source="MONDO:equivalentTo"} xref: GARD:0011923 {source="MONDO:equivalentTo"} xref: ICD10:C67.0 {source="ORDO:284400/btnt", source="Orphanet:284400"} xref: ICD10:C67.1 {source="ORDO:284400/btnt", source="Orphanet:284400"} xref: ICD10:C67.2 {source="ORDO:284400/btnt", source="Orphanet:284400"} xref: ICD10:C67.3 {source="ORDO:284400/btnt", source="Orphanet:284400"} xref: ICD10:C67.4 {source="ORDO:284400/btnt", source="Orphanet:284400"} xref: ICD10:C67.5 {source="ORDO:284400/btnt", source="Orphanet:284400"} xref: ICD10:C67.6 {source="ORDO:284400/btnt", source="Orphanet:284400"} xref: ICD10:C67.7 {source="ORDO:284400/btnt", source="Orphanet:284400"} xref: ICD10:C67.8 {source="ORDO:284400/btnt", source="Orphanet:284400"} xref: ICD10:C67.9 {source="ORDO:284400/btnt", source="Orphanet:284400"} xref: MONDO:0004114 xref: NCIT:C9461 {source="MONDO:equivalentTo", source="DOID:7132", source="EFO:1000129"} xref: ONCOTREE:SCBC {source="MONDO:equivalentTo"} xref: Orphanet:284400 {source="MONDO:equivalentTo"} xref: UMLS:C1332564 {source="MONDO:equivalentTo", source="DOID:7132", source="NCIT:C9461"} xref: UMLS:CN202866 {source="MONDO:equivalentTo"} is_a: EFO:0008524 {source="MONDO:Redundant", source="NCIT:C9461"} ! small cell carcinoma is_a: MONDO:0004986 {source="DOID:7132", source="EFO:1000129", source="MONDO:Redundant", source="NCIT:C9461"} ! urinary bladder carcinoma relationship: has_characteristic MONDO:0021136 {source="MONDO:0020032"} ! rare property_value: exactMatch DOID:7132 property_value: exactMatch DOID:7132 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332564 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332564 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202866 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202866 property_value: exactMatch NCIT:C9461 property_value: exactMatch NCIT:C9461 property_value: exactMatch Orphanet:284400 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/small_cell_carcinoma.yaml property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11923/small-cell-carcinoma-of-the-bladder xsd:anyURI {source="GARD:0011923"} [Term] id: EFO:1000130 name: Bladder Squamous Cell Carcinoma def: "A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming." [NCIT:C4031] synonym: "bladder epidermoid carcinoma" EXACT [NCIT:C4031] synonym: "bladder squamous cell cancer" EXACT [NCIT:C4031] synonym: "bladder squamous cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "bladder squamous cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "bladder squamous cell carcinoma" EXACT [MONDO:0006114, NCIT:C4031] synonym: "BLSC" RELATED ABBREVIATION [ONCOTREE:BLSC] synonym: "epidermoid carcinoma of bladder" EXACT [NCIT:C4031] synonym: "epidermoid carcinoma of the bladder" EXACT [NCIT:C4031] synonym: "epidermoid carcinoma of the urinary bladder" EXACT [DOID:3742, NCIT:C4031] synonym: "epidermoid carcinoma of urinary bladder" EXACT [NCIT:C4031] synonym: "squamous cell carcinoma of bladder" EXACT [NCIT:C4031] synonym: "squamous cell carcinoma of the bladder" EXACT [NCIT:C4031] synonym: "squamous cell carcinoma of the urinary bladder" EXACT [NCIT:C4031] synonym: "squamous cell carcinoma of urinary bladder" EXACT [NCIT:C4031] synonym: "urinary bladder epidermoid carcinoma" EXACT [NCIT:C4031] synonym: "urinary bladder squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C4031] xref: DOID:3742 {source="MONDO:equivalentTo"} xref: EFO:1000130 {source="MONDO:equivalentTo"} xref: MONDO:0002760 xref: NCIT:C4031 {source="EFO:1000130", source="DOID:3742", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C4031 {source="EFO:1000130", source="DOID:3742", source="MONDO:equivalentTo", source="exact-label-match"} xref: ONCOTREE:BLSC {source="MONDO:equivalentTo"} xref: SCTID:255111004 {source="DOID:3742", source="MONDO:equivalentTo"} xref: UMLS:C0279681 {source="NCIT:C4031", source="DOID:3742", source="MONDO:equivalentTo"} is_a: EFO:0000707 {source="DOID:3742", source="EFO:1000130", source="MONDO:Redundant", source="NCIT:C4031"} ! squamous cell carcinoma is_a: MONDO:0004986 {source="DOID:3742", source="EFO:1000130", source="MONDO:Redundant", source="NCIT:C4031"} ! urinary bladder carcinoma property_value: exactMatch DOID:3742 property_value: exactMatch DOID:3742 property_value: exactMatch http://identifiers.org/snomedct/255111004 property_value: exactMatch http://identifiers.org/snomedct/255111004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279681 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279681 property_value: exactMatch NCIT:C4031 property_value: exactMatch NCIT:C4031 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/squamous_cell_carcinoma.yaml [Term] id: EFO:1000131 name: Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive def: "An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001)." [NCIT:C9110] synonym: "blast crises" RELATED [MESH:D001752] synonym: "blast crisis" EXACT [NCIT:C9110] synonym: "blast phase" RELATED [MESH:D001752] synonym: "blast phase chronic granulocytic leukaemia" EXACT OMO:0003005 [] synonym: "blast phase chronic granulocytic leukemia" EXACT [NCIT:C9110] synonym: "blast phase chronic myelocytic leukaemia" EXACT OMO:0003005 [] synonym: "blast phase chronic myelocytic leukemia" EXACT [NCIT:C9110] synonym: "blast phase chronic myelogenous leukaemia" EXACT OMO:0003005 [] synonym: "blast phase chronic myelogenous leukemia" EXACT [NCIT:C9110] synonym: "blast phase chronic myelogenous leukemia, BCR-ABL1 positive" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "blast phase chronic myelogenous leukemia, BCR-ABL1 positive" EXACT [] {comment="preferred label from MONDO"} synonym: "blast phase chronic myeloid leukaemia" EXACT OMO:0003005 [] synonym: "blast phase chronic myeloid leukemia" EXACT [NCIT:C9110] synonym: "blast phase CML" EXACT [NCIT:C9110] synonym: "blast phases" RELATED [MESH:D001752] synonym: "blastic phase chronic granulocytic leukaemia" EXACT OMO:0003005 [] synonym: "blastic phase chronic granulocytic leukemia" EXACT [NCIT:C9110] synonym: "blastic phase chronic myelocytic leukaemia" EXACT OMO:0003005 [] synonym: "blastic phase chronic myelocytic leukemia" EXACT [NCIT:C9110] synonym: "blastic phase chronic myelogenous leukaemia" EXACT OMO:0003005 [] synonym: "blastic phase chronic myelogenous leukemia" EXACT [NCIT:C9110] synonym: "blastic phase chronic myeloid leukaemia" EXACT OMO:0003005 [] synonym: "blastic phase chronic myeloid leukemia" EXACT [NCIT:C9110] synonym: "blastic phase CML" EXACT [NCIT:C9110] synonym: "crises, blast" RELATED [MESH:D001752] synonym: "crisis, blast" RELATED [MESH:D001752] synonym: "phase, blast" RELATED [MESH:D001752] synonym: "phases, blast" RELATED [MESH:D001752] xref: EFO:1000131 {source="MONDO:equivalentTo"} xref: MESH:D001752 {source="MONDO:equivalentTo"} xref: MONDO:0006115 xref: NCIT:C9110 {source="EFO:1000131", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C9110 {source="EFO:1000131", source="MONDO:equivalentTo", source="exact-label-match"} xref: SCTID:413656006 {source="MONDO:equivalentTo"} xref: UMLS:C0005699 {source="MONDO:equivalentTo", source="NCIT:C9110"} is_a: EFO:0000339 {source="NCIT:C9110"} ! chronic myelogenous leukemia relationship: EFO:0000784 CL:0000763 ! has_disease_location myeloid cell relationship: has_modifier HP:0011010 ! Chronic property_value: exactMatch http://identifiers.org/mesh/D001752 property_value: exactMatch http://identifiers.org/mesh/D001752 property_value: exactMatch http://identifiers.org/snomedct/413656006 property_value: exactMatch http://identifiers.org/snomedct/413656006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005699 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005699 property_value: exactMatch NCIT:C9110 property_value: exactMatch NCIT:C9110 [Term] id: EFO:1000132 name: Bone Epithelioid Hemangioma def: "A bone hemangioma characterized by the presence of epithelioid endothelial cells, and eosinophilic and lymphocytic infiltrates." [] xref: NCIt:C5396 is_a: EFO:0003820 ! bone neoplasm [Term] id: EFO:1000133 name: Borderline Exocrine Pancreatic Neoplasm def: "A group of epithelial neoplasms that arise from the exocrine pancreatic tissue and have the potential to evolve into invasive malignant neoplasms. This group includes the pancreatic intraepithelial neoplasias, non-invasive pancreatic mucinous-cystic neoplasms, pancreatic intraductal papillary-mucinous neoplasms, and pancreatic intraductal tubulopapillary neoplasms." [] xref: NCIt:C5716 is_a: EFO:0003860 ! pancreatic neoplasm [Term] id: EFO:1000134 name: Borderline Fallopian Tube Serous Neoplasm def: "A neoplasm of low malignant potential arising from the fallopian tube. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion." [] xref: NCIt:C40107 is_a: EFO:0003859 ! uterine neoplasm [Term] id: EFO:1000135 name: Borderline Ovarian Brenner Tumor def: "A neoplasm of low malignant potential arising from the ovary. It is characterized by the presence of neoplastic transitional cells with atypical or malignant features without evidence of stromal invasion." [] xref: NCIt:C9459 is_a: EFO:0003893 ! ovarian neoplasm [Term] id: EFO:1000136 name: Borderline Ovarian Clear Cell Tumor def: "An epithelial neoplasm with low malignant potential affecting the ovary. It is characterized by the presence of clear or hobnail cells. In some cases, the cells may display nuclear atypia and prominent nucleoli. When such cells are present, they remain confined to the glands. There is no evidence of stromal invasion." [] xref: NCIt:C40080 is_a: EFO:0003893 ! ovarian neoplasm [Term] id: EFO:1000137 name: Borderline Ovarian Endometrioid Tumor def: "A neoplasm of low malignant potential arising from the ovary. It is characterized by the presence of glandular or cystic spaces which contain atypical glandular epithelial cells resembling endometrial cells. The surrounding ovarian stroma is often fibrotic. There is no evidence of stromal invasion." [] xref: NCIt:C7983 is_a: EFO:0003893 ! ovarian neoplasm [Term] id: EFO:1000138 name: Borderline Ovarian Mucinous Tumor def: "A low grade mucinous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of mucinous-type epithelial cells without evidence of stromal invasion. The mucinous epithelial cells may be of intestinal or endocervical type." [] xref: NCIt:C40036 is_a: EFO:0003893 ! ovarian neoplasm [Term] id: EFO:1000139 name: Borderline Ovarian Serous Tumor def: "A low grade serous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion. It is often asymptomatic but rarely it may present with abdominal pain or abdominal enlargement due to rupture or torsion." [NCIT:C5226] synonym: "borderline ovarian serous neoplasm" EXACT [NCIT:C5226] synonym: "borderline ovarian serous tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "borderline ovarian serous tumor" EXACT [NCIT:C5226] synonym: "borderline serous neoplasm of ovary" EXACT [NCIT:C5226] synonym: "borderline serous neoplasm of the ovary" EXACT [NCIT:C5226] synonym: "borderline serous tumor of ovary" EXACT [NCIT:C5226] synonym: "borderline serous tumor of the ovary" EXACT [NCIT:C5226] synonym: "borderline serous tumour of ovary" EXACT OMO:0003005 [] synonym: "borderline serous tumour of the ovary" EXACT OMO:0003005 [] synonym: "ovarian serous neoplasm of low malignant potential" EXACT [NCIT:C5226] synonym: "ovarian serous tumor of low malignant potential" EXACT [NCIT:C5226] synonym: "ovarian serous tumour of low malignant potential" EXACT OMO:0003005 [] synonym: "proliferating ovarian serous neoplasm" EXACT [NCIT:C5226] synonym: "proliferating ovarian serous tumor" EXACT [NCIT:C5226] synonym: "proliferating ovarian serous tumour" EXACT OMO:0003005 [] synonym: "proliferating serous neoplasm of ovary" EXACT [NCIT:C5226] synonym: "proliferating serous neoplasm of the ovary" EXACT [NCIT:C5226] synonym: "proliferating serous tumor of ovary" EXACT [NCIT:C5226] synonym: "proliferating serous tumor of the ovary" EXACT [NCIT:C5226] synonym: "proliferating serous tumour of ovary" EXACT OMO:0003005 [] synonym: "proliferating serous tumour of the ovary" EXACT OMO:0003005 [] synonym: "serous neoplasm of ovary with low malignant potential" EXACT [NCIT:C5226] synonym: "serous neoplasm of the ovary with low malignant potential" EXACT [NCIT:C5226] synonym: "serous ovarian neoplasm of low malignant potential" EXACT [NCIT:C5226] synonym: "serous ovarian tumor of low malignant potential" EXACT [NCIT:C5226] synonym: "serous ovarian tumour of low malignant potential" EXACT OMO:0003005 [] synonym: "serous tumor of ovary with low malignant potential" EXACT [NCIT:C5226] synonym: "serous tumor of the ovary with low malignant potential" EXACT [NCIT:C5226] synonym: "serous tumour of ovary with low malignant potential" EXACT OMO:0003005 [] synonym: "serous tumour of the ovary with low malignant potential" EXACT OMO:0003005 [] xref: MONDO:0020662 xref: NCIT:C5226 {source="MONDO:equivalentTo"} xref: NCIt:C5226 is_a: EFO:1000140 {source="NCIT:C5226"} ! Borderline Ovarian Surface Epithelial-Stromal Tumor is_a: MONDO:0037255 {source="NCIT:C5226"} ! ovarian serous tumor intersection_of: EFO:1000140 ! Borderline Ovarian Surface Epithelial-Stromal Tumor intersection_of: MONDO:0037255 ! ovarian serous tumor property_value: exactMatch NCIT:C5226 [Term] id: EFO:1000140 name: Borderline Ovarian Surface Epithelial-Stromal Tumor def: "A low grade epithelial tumor arising from the ovary. It is characterized by an atypical proliferation of epithelial cells. There is no evidence of stromal invasion." [NCIT:P378] def: "An epithelial tumor arising from the ovary without definitive morphologic characteristics of malignancy." [] subset: ordo_disease {source="Orphanet:206473"} synonym: "borderline epithelial neoplasm of ovary" EXACT [NCIT:C4783] synonym: "borderline epithelial neoplasm of the ovary" EXACT [NCIT:C4783] synonym: "borderline epithelial tumor of ovary" EXACT [NCIT:C4783] synonym: "borderline epithelial tumor of ovary" EXACT [] {comment="preferred label from MONDO"} synonym: "borderline epithelial tumor of the ovary" EXACT [NCIT:C4783] synonym: "borderline epithelial tumour of the ovary" EXACT OMO:0003005 [] synonym: "borderline ovarian epithelial neoplasm" EXACT [NCIT:C4783] synonym: "borderline ovarian epithelial tumor" EXACT [NCIT:C4783, Orphanet:206473] synonym: "borderline ovarian epithelial tumour" EXACT OMO:0003005 [] synonym: "borderline ovarian surface epithelial-stromal tumor" EXACT [NCIT:C4783] synonym: "borderline ovarian surface epithelial-stromal tumour" EXACT OMO:0003005 [] synonym: "epithelial neoplasm of ovary of borderline malignancy" EXACT [NCIT:C4783] synonym: "epithelial neoplasm of the ovary of borderline malignancy" EXACT [NCIT:C4783] synonym: "epithelial ovarian neoplasm of borderline malignancy" EXACT [NCIT:C4783] synonym: "epithelial ovarian tumor of borderline malignancy" EXACT [NCIT:C4783] synonym: "epithelial ovarian tumour of borderline malignancy" EXACT OMO:0003005 [] synonym: "epithelial tumor of ovary of borderline malignancy" EXACT [NCIT:C4783] synonym: "epithelial tumor of the ovary of borderline malignancy" EXACT [NCIT:C4783] synonym: "epithelial tumour of ovary of borderline malignancy" EXACT OMO:0003005 [] synonym: "epithelial tumour of the ovary of borderline malignancy" EXACT OMO:0003005 [] synonym: "low malignant potential ovarian tumor" EXACT [NCIT:C4783] synonym: "low malignant potential ovarian tumour" EXACT OMO:0003005 [] synonym: "ovarian borderline malignant tumor" EXACT [NCIT:C4783] synonym: "ovarian borderline malignant tumour" EXACT OMO:0003005 [] synonym: "ovarian low malignant potential tumor" EXACT [NCIT:C4783] synonym: "ovarian low malignant potential tumour" EXACT OMO:0003005 [] synonym: "ovarian tum. of low malig. poten." EXACT [NCIT:C4783] synonym: "ovarian tumor of low malignant potential" EXACT [Orphanet:206473] synonym: "ovarian tumors of low malignant potential" EXACT [NCIT:C4783] synonym: "ovarian tumour of low malignant potential" EXACT OMO:0003005 [] synonym: "ovarian tumours of low malignant potential" EXACT OMO:0003005 [] xref: MONDO:0016093 xref: NCIT:C4783 {source="MONDO:equivalentTo"} xref: NCIt:C4783 xref: Orphanet:206473 {source="MONDO:equivalentTo"} xref: SCTID:764791008 {source="MONDO:equivalentTo"} xref: UMLS:C3665489 {source="MONDO:equivalentTo", source="Orphanet:206473"} is_a: MONDO:0002229 {source="NCIT:C4783"} ! ovarian epithelial tumor property_value: exactMatch http://identifiers.org/snomedct/764791008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3665489 property_value: exactMatch NCIT:C4783 property_value: exactMatch Orphanet:206473 property_value: excluded_subClassOf MONDO:0018364 {source="Orphanet:206473", source="https://github.com/monarch-initiative/mondo/issues/454"} [Term] id: EFO:1000141 name: Brain Stem Glioblastoma def: "A malignant, clinically aggressive astrocytic tumor (glioma) localized in the brain stem. -- 2003" [] xref: NCIt:C5097 is_a: EFO:0006545 ! brain glioblastoma [Term] id: EFO:1000142 name: Brain Stem Glioma def: "A neuroglial tumor that arises from the brain stem." [NCIT:C8501] synonym: "brain stem glioma" EXACT [NCIT:C8501] synonym: "brain stem glioma" EXACT [] {comment="preferred label from MONDO"} synonym: "brain stem neuroglial neoplasm" EXACT [NCIT:C8501] synonym: "brain stem neuroglial tumor" EXACT [NCIT:C8501] synonym: "brain stem neuroglial tumour" EXACT OMO:0003005 [] synonym: "brainstem glioma" EXACT [NCIT:C8501] synonym: "brainstem malignant glioma" EXACT [MONDO:patterns/location] synonym: "brainstem neuroglial neoplasm" EXACT [NCIT:C8501] synonym: "brainstem neuroglial tumor" EXACT [DOID:4202, NCIT:C8501] synonym: "brainstem neuroglial tumour" EXACT OMO:0003005 [] synonym: "diffuse brainstem glioma" EXACT [NCIT:C8501] synonym: "glioma of brain stem" EXACT [NCIT:C8501] synonym: "glioma of brainstem" EXACT [NCIT:C8501] synonym: "glioma of the brain stem" EXACT [NCIT:C8501] synonym: "glioma of the brainstem" EXACT [NCIT:C8501] synonym: "malignant glioma of brainstem" EXACT [MONDO:design_pattern] xref: DOID:4202 {source="MONDO:equivalentTo"} xref: MedDRA:10006143 xref: MONDO:0002911 xref: NCIT:C8501 {source="DOID:4202", source="MONDO:equivalentTo"} xref: NCIt:C8501 xref: SCTID:444545003 {source="DOID:4202", source="MONDO:equivalentTo"} xref: UMLS:C0677865 {source="DOID:4202", source="MONDO:equivalentTo", source="NCIT:C8501"} is_a: MONDO:0002912 {source="DOID:4202", source="MONDO:Entailed", source="MONDO:Redundant"} ! brainstem cancer is_a: MONDO:0005499 {source="DOID:4202", source="MONDO:Redundant"} ! brain glioma property_value: exactMatch DOID:4202 property_value: exactMatch http://identifiers.org/snomedct/444545003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0677865 property_value: exactMatch NCIT:C8501 [Term] id: EFO:1000143 name: Breast Carcinoma by Gene Expression Profile def: "A header term that includes the following breast carcinoma subtypes determined by gene expression profiling: luminal A breast carcinoma, luminal B breast carcinoma, HER2 positive breast carcinoma, basal-like breast carcinoma, triple-negative breast carcinoma, and normal breast-like subtype of breast carcinoma." [NCIT:C53553] synonym: "breast carcinoma by gene expression profile" EXACT [] {comment="preferred label from MONDO"} synonym: "breast carcinoma by gene expression profile" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "breast carcinoma by gene expression profile" EXACT [NCIT:C53553] xref: EFO:1000143 {source="MONDO:equivalentTo"} xref: MONDO:0006116 xref: NCIT:C53553 {source="EFO:1000143", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C53553 {source="EFO:1000143", source="MONDO:equivalentTo", source="exact-label-match"} xref: UMLS:C3642344 {source="MONDO:equivalentTo", source="NCIT:C53553"} is_a: EFO:0000305 {source="EFO:1000143", source="NCIT:C53553"} ! breast carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3642344 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3642344 property_value: exactMatch NCIT:C53553 property_value: exactMatch NCIT:C53553 [Term] id: EFO:1000144 name: Breast Diffuse Large B-Cell Lymphoma def: "A diffuse large B-cell lymphoma that arises from the breast. It is the most common type of primary breast lymphoma." [NCIT:C40375] synonym: "breast diffuse large B-cell lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "breast diffuse large B-cell lymphoma" EXACT [MONDO:patterns/location, NCIT:C40375] synonym: "breast diffuse large B-cell lymphoma" EXACT [] {comment="preferred label from MONDO"} synonym: "breast DLBCL" EXACT [NCIT:C40375] synonym: "diffuse large B-cell lymphoma of breast" EXACT [MONDO:design_pattern] xref: EFO:1000144 {source="MONDO:equivalentTo"} xref: MONDO:0006117 xref: NCIT:C40375 {source="DesignPattern", source="EFO:1000144", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C40375 {source="EFO:1000144", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1511306 {source="MONDO:equivalentTo", source="NCIT:C40375"} is_a: EFO:0000403 {source="MONDO:Redundant", source="NCIT:C40375"} ! diffuse large B-cell lymphoma is_a: MONDO:0000621 ! immune system cancer is_a: MONDO:0000653 ! integumentary system cancer is_a: MONDO:0003661 {source="MONDO:Redundant", source="NCIT:C40375/inferred"} ! breast lymphoma relationship: EFO:0000784 CL:0000945 ! has_disease_location lymphocyte of B lineage property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511306 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511306 property_value: exactMatch NCIT:C40375 property_value: exactMatch NCIT:C40375 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:1000145 name: breast fibrosis def: "Breast fibrocystic change characterized by the prominence of fibrotic changes in the parenchyma." [NCIT:C3660] synonym: "breast fibrosclerosis" EXACT [NCIT:C3660] synonym: "breast fibrosis" EXACT [] {comment="preferred label from MONDO"} synonym: "breast fibrosis" EXACT [NCIT:C3660] synonym: "breast fibrosis" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "fibrosclerosis of breast" EXACT [DOID:10353, ICD9CM:610.3, MONDO:0001013, NCIT:C3660] synonym: "fibrosclerosis of breast" EXACT [DOID:10353, ICD9CM_2006:610.3, MONDO:0001013, NCIT:C3660] synonym: "fibrosclerosis of the breast" EXACT [NCIT:C3660] synonym: "fibrosis of breast" EXACT [NCIT:C3660] synonym: "fibrosis of the breast" EXACT [DOID:10353, NCIT:C3660] xref: COHD:75311 {source="MONDO:equivalentTo"} xref: DOID:10353 {source="MONDO:equivalentTo"} xref: EFO:1000145 {source="MONDO:equivalentTo"} xref: ICD10:N60.3 {source="MONDO:equivalentTo", source="DOID:10353"} xref: ICD10CM:N60.3 {source="MONDO:equivalentTo", source="DOID:10353"} xref: ICD9:610.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:10353"} xref: ICD9:610.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10353"} xref: MONDO:0006118 xref: NCIT:C3660 {source="MONDO:equivalentTo", source="EFO:1000145", source="DOID:10353"} xref: SCTID:29070004 {source="MONDO:equivalentTo", source="DOID:10353"} xref: UMLS:C0156318 {source="NCIT:C3660", source="MONDO:equivalentTo", source="DOID:10353"} is_a: EFO:0003869 ! breast neoplasm is_a: EFO:0006890 ! fibrosis is_a: MONDO:0003724 {source="DOID:10353", source="NCIT:C3660"} ! non-proliferative fibrocystic change of the breast intersection_of: EFO:0006890 ! fibrosis intersection_of: EFO:0000784 UBERON:0000310 ! has_disease_location breast property_value: exactMatch DOID:10353 property_value: exactMatch DOID:10353 property_value: exactMatch http://identifiers.org/snomedct/29070004 property_value: exactMatch http://identifiers.org/snomedct/29070004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156318 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156318 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/N60.3 property_value: exactMatch NCIT:C3660 property_value: exactMatch NCIT:C3660 [Term] id: EFO:1000146 name: Breast Mucosa-Associated Lymphoid Tissue Lymphoma def: "An extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue that arises from the breast as a primary tumor." [NCIT:C35688] synonym: "breast MALT lymphoma" EXACT [NCIT:C35688] synonym: "breast mucosa-associated lymphoid tissue lymphoma" EXACT [NCIT:C35688] synonym: "breast mucosa-associated lymphoid tissue lymphoma" EXACT [] {comment="preferred label from MONDO"} synonym: "breast mucosa-associated lymphoid tissue lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:1000146 {source="MONDO:equivalentTo"} xref: MONDO:0006119 xref: NCIT:C35688 {source="EFO:1000146", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C35688 {source="EFO:1000146", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1332633 {source="MONDO:equivalentTo", source="NCIT:C35688"} is_a: EFO:0000191 {source="NCIT:C35688"} ! MALT lymphoma is_a: EFO:0009483 ! breast disease is_a: MONDO:0000653 ! integumentary system cancer property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332633 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332633 property_value: exactMatch NCIT:C35688 property_value: exactMatch NCIT:C35688 [Term] id: EFO:1000147 name: C-Cell Hyperplasia def: "Neoplastic or reactive proliferation of the C-cells in the thyroid gland. The neoplastic C-cell hyperplasia is associated with familial medullary thyroid gland carcinoma and multiple endocrine neoplasia type II and IIB. Morphologically, it is characterized by the presence of clusters of intrafollicular C-cells with atypical cytologic features. The reactive C-cell hyperplasia is also known as physiological or secondary C-cell hyperplasia and it is associated with conditions that cause hypercalcemia (e.g., hyperparathyroidism)." [NCIT:C46100] synonym: "C-cell hyperplasia" EXACT [NCIT:C46100] synonym: "C-cell hyperplasia" EXACT [] {comment="preferred label from MONDO"} xref: MedDRA:10070569 xref: MONDO:0006120 xref: NCIT:C46100 {source="MONDO:equivalentTo", source="EFO:1000147", source="MONDO:exact-label-match"} xref: NCIt:C46100 xref: UMLS:C0342190 {source="NCIT:C46100", source="MONDO:equivalentTo"} is_a: EFO:0000536 {source="EFO:1000147", source="NCIT:C46100"} ! hyperplasia is_a: EFO:1000627 {source="NCIT:C46100"} ! thyroid disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342190 property_value: exactMatch NCIT:C46100 [Term] id: EFO:1000148 name: Calcifying Fibrous Tumor def: "A benign well-circumscribed paucicellular lesion arising from the soft tissues. It is characterized by the presence of fibroblasts, lymphoplasmacytic infiltrates, collagenous stroma formation, psammoma bodies, and dystrophic calcifications." [NCIT:C6488] synonym: "calcifying fibrous pseudotumor" EXACT [NCIT:C6488] synonym: "calcifying fibrous tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "calcifying fibrous tumor" EXACT [NCIT:C6488] synonym: "calcifying fibrous tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "CFT" EXACT ABBREVIATION [NCIT:C6488] xref: EFO:1000148 {source="MONDO:equivalentTo"} xref: MONDO:0006121 xref: NCIT:C6488 {source="MONDO:equivalentTo", source="EFO:1000148"} xref: UMLS:C1332833 {source="MONDO:equivalentTo", source="NCIT:C6488"} is_a: EFO:0002422 {source="NCIT:C6488"} ! benign neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332833 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332833 property_value: exactMatch NCIT:C6488 property_value: exactMatch NCIT:C6488 [Term] id: EFO:1000149 name: Calcifying Nested Epithelial Stromal Tumor of the Liver def: "A rare malignant tumor that arises from the liver and occurs in children. It is characterized by the presence of nested epithelioid and spindle cells. Desmoplasia, calcifications, and bone formation may also be present." [NCIT:C96830] synonym: "calcifying nested epithelial stromal tumor of the liver" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "calcifying nested epithelial stromal tumor of the liver" EXACT [] {comment="preferred label from MONDO"} xref: EFO:1000149 {source="MONDO:equivalentTo"} xref: ICDO:8975/1 {source="NCIT:C96830"} xref: MONDO:0006122 xref: NCIT:C96830 {source="MONDO:equivalentTo", source="EFO:1000149", source="exact-label-match"} xref: NCIT:C96830 {source="MONDO:equivalentTo", source="EFO:1000149", source="MONDO:exact-label-match"} xref: UMLS:C3273067 {source="MONDO:equivalentTo", source="NCIT:C96830"} is_a: MONDO:0002691 {source="MONDO:Redundant", source="NCIT:C96830/inferred"} ! liver cancer property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3273067 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3273067 property_value: exactMatch NCIT:C96830 property_value: exactMatch NCIT:C96830 [Term] id: EFO:1000150 name: Cardiac Rhabdomyoma def: "A well circumscribed benign tumor arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on tumor location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis." [NCIT:P378] synonym: "cardiac rhabdomyoma" EXACT [] {comment="preferred label from MONDO"} synonym: "cardiac rhabdomyoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "cardiac rhabdomyoma" EXACT [MONDO:ambiguous] synonym: "cardiac rhabdomyoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "heart rhabdomyoma" EXACT [MONDO:patterns/location, NCIT:C6739] synonym: "rhabdomyoma of heart" EXACT [NCIT:C6739] synonym: "rhabdomyoma of the heart" EXACT [NCIT:C6739] xref: EFO:1000150 {source="MONDO:equivalentTo"} xref: HP:0009729 {source="MONDO:otherHierarchy"} xref: MONDO:0006123 xref: NCIT:C6739 {source="EFO:1000150", source="MONDO:equivalentTo"} xref: UMLS:C1332852 {source="MONDO:equivalentTo", source="NCIT:C6739"} is_a: MONDO:0021450 ! benign neoplasm of heart is_a: MONDO:0036688 ! rhabdomyoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332852 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332852 property_value: exactMatch NCIT:C6739 property_value: exactMatch NCIT:C6739 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml property_value: IAO:0000589 "cardiac rhabdomyoma (disease)" xsd:string [Term] id: EFO:1000151 name: Cavernous Hemangioma alt_id: MONDO:0006124 def: "A hemangioma characterized by the presence of cavernous vascular spaces." [NCIT:P378] synonym: "cavernoma" EXACT [DOID:483, NCIT:C3086] synonym: "cavernous angioma" EXACT [NCIT:C3086] synonym: "cavernous haemangioma" EXACT [DOID:483] synonym: "cavernous hemangioma" EXACT [NCIT:C3086] synonym: "cavernous hemangioma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "cavernous hemangioma" EXACT [] {comment="preferred label from MONDO"} synonym: "cavernous hemangioma (morphologic abnormality)" EXACT [DOID:483] xref: DOID:483 {source="MONDO:equivalentTo"} xref: EFO:1000151 {source="MONDO:equivalentTo"} xref: HP:0001048 {source="MONDO:otherHierarchy"} xref: ICD10:D18.0 {source="DOID:483"} xref: ICDO:9121/0 {source="NCIT:C3086"} xref: MESH:D006392 {source="MONDO:equivalentTo", source="DOID:483"} xref: MONDO:0003155 xref: NCIT:C3086 {source="EFO:1000151", source="MONDO:equivalentTo", source="DOID:483"} xref: SCTID:416824008 {source="MONDO:equivalentTo", source="DOID:483"} xref: SCTID:56975005 {source="DOID:483", source="MONDO:directSiblingOf"} xref: UMLS:C0018920 {source="NCIT:C3086", source="MONDO:equivalentTo", source="DOID:483"} is_a: EFO:1000635 {source="EFO:1000151", source="MESH:D006392", source="NCIT:C3086"} ! hemangioma is_a: MONDO:0002334 ! hematopoietic and lymphoid system neoplasm is_a: MONDO:0003159 {source="DOID:483", source="MESH:D006392"} ! vascular hemostatic disease property_value: closeMatch http://identifiers.org/snomedct/157014007 property_value: closeMatch http://identifiers.org/snomedct/189192007 property_value: closeMatch http://identifiers.org/snomedct/254781005 property_value: closeMatch http://identifiers.org/snomedct/33377007 property_value: closeMatch http://identifiers.org/snomedct/67668002 property_value: exactMatch DOID:483 property_value: exactMatch DOID:483 property_value: exactMatch http://identifiers.org/mesh/D006392 property_value: exactMatch http://identifiers.org/mesh/D006392 property_value: exactMatch http://identifiers.org/snomedct/416824008 property_value: exactMatch http://identifiers.org/snomedct/416824008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018920 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018920 property_value: exactMatch NCIT:C3086 property_value: exactMatch NCIT:C3086 [Term] id: EFO:1000152 name: Cavernous Hemangioma of the Face alt_id: MONDO:0006125 def: "A cavernous hemangioma arising from the face." [NCIT:P378] synonym: "cavernous hemangioma of face" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "cavernous hemangioma of face" EXACT [] {comment="preferred label from MONDO"} synonym: "cavernous hemangioma of face" EXACT [NCIT:C7053] synonym: "cavernous hemangioma of the Face" EXACT [NCIT:C7053] synonym: "face cavernous hemangioma" EXACT [MONDO:patterns/location] xref: DOID:5776 {source="MONDO:equivalentTo"} xref: EFO:1000152 {source="MONDO:equivalentTo"} xref: HP:0007486 {source="MONDO:otherHierarchy"} xref: MONDO:0003645 xref: NCIT:C7053 {source="EFO:1000152", source="DOID:5776", source="MONDO:equivalentTo"} xref: UMLS:C1332863 {source="DOID:5776", source="MONDO:equivalentTo", source="NCIT:C7053"} is_a: EFO:0005950 ! head and neck neoplasia is_a: EFO:1000151 {source="DOID:5776", source="MONDO:Redundant", source="NCIT:C7053"} ! Cavernous Hemangioma property_value: exactMatch DOID:5776 property_value: exactMatch DOID:5776 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332863 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332863 property_value: exactMatch NCIT:C7053 property_value: exactMatch NCIT:C7053 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:1000153 name: obsolete_cecum adenocarcinoma property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.65" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use EFO_1000020 label : cecum adenocarcinoma" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_1000020 [Term] id: EFO:1000154 name: Cecum Neuroendocrine Tumor G1 def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the cecum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:C5501] synonym: "caecal carcinoid tumor" EXACT [NCIT:C5501] synonym: "caecal carcinoid tumour" EXACT OMO:0003005 [] synonym: "caecum carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1, NCIT:C5501] synonym: "caecum carcinoid tumor (disease)" EXACT [MONDO:patterns/location] synonym: "caecum carcinoid tumour" EXACT OMO:0003005 [] synonym: "caecum carcinoid tumour (disease)" EXACT OMO:0003005 [] synonym: "caecum NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "caecum neuroendocrine neoplasm G1" EXACT [] synonym: "caecum neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "carcinoid tumor of cecum" EXACT [NCIT:C5501] synonym: "carcinoid tumor of the cecum" EXACT [NCIT:C5501] synonym: "carcinoid tumour of cecum" EXACT OMO:0003005 [] synonym: "carcinoid tumour of the cecum" EXACT OMO:0003005 [] synonym: "cecal carcinoid tumor" EXACT [NCIT:C5501] synonym: "cecal carcinoid tumour" EXACT OMO:0003005 [] synonym: "cecum carcinoid tumor" EXACT [NCIT:C5501] synonym: "cecum carcinoid tumour" EXACT OMO:0003005 [] synonym: "cecum NET G1" EXACT [NCIT:C5501] synonym: "cecum neuroendocrine tumor G1" EXACT [] {comment="preferred label from MONDO"} synonym: "cecum neuroendocrine tumor G1" EXACT [NCIT:C5501] synonym: "cecum neuroendocrine tumor G1" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "grade 1 neuroendocrine neoplasm of caecum" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] xref: EFO:1000154 {source="MONDO:equivalentTo"} xref: MONDO:0006126 xref: NCIT:C5501 {source="EFO:1000154", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C5501 {source="DesignPattern", source="EFO:1000154", source="MONDO:equivalentTo", source="exact-label-match"} xref: UMLS:C0854488 {source="MONDO:equivalentTo", source="NCIT:C5501"} is_a: EFO:0009255 {source="MONDO:Redundant", source="NCIT:C5501"} ! cecal neoplasm is_a: EFO:1000188 {source="MONDO:Redundant", source="NCIT:C5501"} ! Colon Neuroendocrine Tumor G1 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0854488 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0854488 property_value: exactMatch NCIT:C5501 property_value: exactMatch NCIT:C5501 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/neuroendocrine_neoplasm_grade1.yaml [Term] id: EFO:1000155 name: Cecum Villous Adenoma def: "A neoplasm that arises from the glandular epithelium of the cecal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." [NCIT:C5520] synonym: "caecum adenoma" RELATED [DOID:0050910] synonym: "caecum villous adenoma" EXACT [MONDO:patterns/location] synonym: "cecal villous adenoma" EXACT [NCIT:C5520] synonym: "cecum adenoma" BROAD [DOID:0050910] synonym: "cecum villous adenoma" EXACT [] {comment="preferred label from MONDO"} synonym: "cecum villous adenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "cecum villous adenoma" EXACT [NCIT:C5520] synonym: "villous adenoma of cecum" EXACT [NCIT:C5520] synonym: "villous adenoma of the cecum" EXACT [NCIT:C5520] xref: DOID:0050910 {source="MONDO:equivalentTo"} xref: EFO:1000155 {source="MONDO:equivalentTo"} xref: MONDO:0000525 xref: NCIT:C5520 {source="DesignPattern", source="EFO:1000155", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C5520 {source="EFO:1000155", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1332869 {source="MONDO:equivalentTo", source="NCIT:C5520"} is_a: EFO:0009255 {source="DOID:0050910", source="MONDO:Redundant", source="NCIT:C5520"} ! cecal neoplasm is_a: MONDO:0021271 {source="MONDO:Redundant", source="NCIT:C5520"} ! villous adenoma of colon property_value: exactMatch DOID:0050910 property_value: exactMatch DOID:0050910 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332869 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332869 property_value: exactMatch NCIT:C5520 property_value: exactMatch NCIT:C5520 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql [Term] id: EFO:1000156 name: Central Nervous System Anaplastic Large Cell Lymphoma def: "An anaplastic large cell lymphoma that affects the brain, meninges, or spinal cord." [NCIT:C5322] synonym: "anaplastic central nervous system large cell lymphoma" EXACT [NCIT:C5322] synonym: "anaplastic CNS large cell lymphoma" EXACT [NCIT:C5322] synonym: "anaplastic large cell lymphoma of central nervous system" EXACT [NCIT:C5322] synonym: "anaplastic large cell lymphoma of CNS" EXACT [NCIT:C5322] synonym: "anaplastic large cell lymphoma of the central nervous system" EXACT [NCIT:C5322] synonym: "anaplastic large cell lymphoma of the CNS" EXACT [NCIT:C5322] synonym: "central nervous system anaplastic large cell lymphoma" EXACT [MONDO:patterns/location, NCIT:C5322] synonym: "central nervous system anaplastic large cell lymphoma" EXACT [] {comment="preferred label from MONDO"} synonym: "central nervous system anaplastic large cell lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "primary central nervous system anaplastic large cell lymphoma" EXACT [NCIT:C5322] synonym: "primary CNS anaplastic large cell lymphoma" EXACT [NCIT:C5322] xref: EFO:1000156 {source="MONDO:equivalentTo"} xref: MONDO:0006128 xref: NCIT:C5322 {source="MONDO:equivalentTo", source="EFO:1000156", source="MONDO:exact-label-match"} xref: NCIT:C5322 {source="MONDO:equivalentTo", source="EFO:1000156", source="exact-label-match"} xref: UMLS:C1335476 {source="MONDO:equivalentTo", source="NCIT:C5322"} is_a: EFO:0003032 {source="EFO:1000156", source="MONDO:Redundant", source="NCIT:C5322"} ! anaplastic large cell lymphoma is_a: MONDO:0020633 ! anaplastic cancer is_a: MONDO:0044887 ! central nervous system non-hodgkin lymphoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335476 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335476 property_value: exactMatch NCIT:C5322 property_value: exactMatch NCIT:C5322 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:1000157 name: Central Nervous System Lymphoma alt_id: MONDO:0018732 def: "A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis." [NCIT:C9301] subset: ordo_disease {source="Orphanet:46135"} synonym: "central nervous system lymphoma" EXACT [MONDO:0006129, MONDO:patterns/location, NCIT:C9301] synonym: "CNS lymphoma" EXACT [NCIT:C9301] synonym: "lymphoma of central nervous system" EXACT [MONDO:design_pattern] synonym: "malignant lymphomas of CNS" EXACT [NCIT:C9301] synonym: "malignant lymphomas of the CNS" EXACT [NCIT:C9301] synonym: "microglioma" EXACT [DOID:3234, Wikipedia:Primary_central_nervous_system_lymphoma] synonym: "microglioma" EXACT [DOID:3234, https://en.wikipedia.org/wiki/Primary_central_nervous_system_lymphoma] synonym: "PCNSL" EXACT ABBREVIATION [NCIT:C9301, Orphanet:46135] synonym: "primary brain lymphoma" EXACT [Orphanet:46135] synonym: "primary central nervous system lymphoma" EXACT [NCIT:C9301] synonym: "primary central nervous system lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "primary central nervous system lymphoma" EXACT [] {comment="preferred label from MONDO"} synonym: "primary CNS lymphoma" EXACT [DOID:3234, NCIT:C9301, Orphanet:46135] synonym: "primary lymphoma, CNS" RELATED [GARD:0009318] xref: COHD:373152 {source="MONDO:equivalentTo"} xref: DOID:3234 {source="MONDO:equivalentTo"} xref: EFO:1000157 {source="MONDO:equivalentTo"} xref: GARD:0009318 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10:C83.3 {source="ORDO:46135/ntbt", source="Orphanet:46135"} xref: ICD9:200.5 {source="DOID:3234"} xref: MedDRA:10036685 {source="ORDO:46135/e", source="Orphanet:46135"} xref: MedDRA:10036685 {source="Orphanet:46135/e", source="Orphanet:46135"} xref: MONDO:0002571 xref: NCIT:C9301 {source="DOID:3234", source="ONCOTREE:PCNSL", source="EFO:1000157", source="MONDO:equivalentTo"} xref: ONCOTREE:PCNSL {source="MONDO:equivalentTo"} xref: Orphanet:46135 {source="MONDO:equivalentTo"} xref: SCTID:307649006 {source="DOID:3234", source="MONDO:equivalentTo", source="MONDO:directSiblingOf"} xref: UMLS:C0240803 {source="MONDO:relatedTo", source="Orphanet:46135"} xref: UMLS:C0742472 {source="DOID:3234", source="MONDO:equivalentObsolete"} xref: UMLS:C0742472 {source="DOID:3234", source="MONDO:equivalentTo"} is_a: EFO:0000096 {source="ONCOTREE:PCNSL"} ! neoplasm of mature B-cells is_a: EFO:0000326 {source="DOID:3234/inferred", source="MONDO:Redundant", source="NCIT:C9301"} ! central nervous system cancer is_a: MONDO:0000621 ! immune system cancer is_a: MONDO:0003641 {source="DOID:3234", source="MONDO:Redundant", source="NCIT:C9301"} ! central nervous system hematopoietic neoplasm is_a: MONDO:0017207 {source="Orphanet:46135"} ! primary organ-specific lymphoma is_a: MONDO:0017343 {source="Orphanet:46135"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder property_value: closeMatch http://identifiers.org/meddra/10036685 property_value: closeMatch http://identifiers.org/snomedct/190006007 property_value: closeMatch http://identifiers.org/snomedct/21964009 property_value: closeMatch http://identifiers.org/snomedct/69110006 property_value: exactMatch DOID:3234 property_value: exactMatch DOID:3234 property_value: exactMatch http://identifiers.org/meddra/10036685 property_value: exactMatch http://identifiers.org/snomedct/307649006 property_value: exactMatch http://identifiers.org/snomedct/307649006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280803 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0742472 property_value: exactMatch NCIT:C9301 property_value: exactMatch NCIT:C9301 property_value: exactMatch Orphanet:46135 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/lymphoma.yaml [Term] id: EFO:1000158 name: Central Nervous System Neoplasm def: "A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia." [NCIT:C9293] synonym: "brain/spinal cord tumor" EXACT [NCIT:C9293] synonym: "brain/spinal cord tumour" EXACT OMO:0003005 [] synonym: "central nervous system neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "central nervous system neoplasm" EXACT [NCIT:C9293] synonym: "central nervous system neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "central nervous system neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "central nervous system tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C9293] synonym: "central nervous system tumour" EXACT OMO:0003005 [] synonym: "CNS neoplasm" EXACT [NCIT:C9293] synonym: "CNS tumor" EXACT [NCIT:C9293] synonym: "CNS tumour" EXACT OMO:0003005 [] synonym: "neoplasm of central nervous system" EXACT [MONDO:patterns/neoplasm, NCIT:C9293] synonym: "neoplasm of CNS" EXACT [NCIT:C9293] synonym: "neoplasm of the central nervous system" EXACT [NCIT:C9293] synonym: "tumor of central nervous system" EXACT [MONDO:patterns/neoplasm, NCIT:C9293] synonym: "tumor of CNS" EXACT [NCIT:C9293] synonym: "tumor of the central nervous system" EXACT [NCIT:C9293] synonym: "tumor of the CNS" EXACT [NCIT:C9293] synonym: "tumour of central nervous system" EXACT OMO:0003005 [] synonym: "tumour of CNS" EXACT OMO:0003005 [] synonym: "tumour of the central nervous system" EXACT OMO:0003005 [] synonym: "tumour of the CNS" EXACT OMO:0003005 [] xref: EFO:1000158 {source="MONDO:equivalentTo"} xref: MedDRA:10009715 xref: MedDRA:10028992 xref: MONDO:0006130 xref: NCIT:C9293 {source="MONDO:equivalentTo", source="EFO:1000158"} is_a: EFO:0009386 {source="MONDO:Redundant", source="NCIT:C9293"} ! central nervous system disease is_a: MONDO:0021248 {source="MONDO:Redundant", source="NCIT:C9293"} ! nervous system neoplasm property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0085136 property_value: exactMatch NCIT:C9293 property_value: exactMatch NCIT:C9293 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/neoplasm.yaml [Term] id: EFO:1000159 name: Cerebellar Liponeurocytoma def: "A rare, WHO grade II cerebellar neoplasm which shows consistent neuronal, variable astrocytic and focal lipomatous differentiation. It occurs in adults, has a low proliferative potential and usually has a favorable prognosis. (Adapted from WHO)" [NCIT:C6905] subset: gard_rare {source="GARD:0010642"} subset: ordo_disease {source="Orphanet:251931"} synonym: "cerebellar liponeurocytoma" EXACT [DOID:6458] synonym: "cerebellar liponeurocytoma" EXACT [] {comment="preferred label from MONDO"} synonym: "cerebellar liponeurocytoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "cerebellar liponeurocytoma (WHO grade II)" EXACT [NCIT:C6905] synonym: "CLNC" RELATED ABBREVIATION [ONCOTREE:CLNC] synonym: "lipomatous medulloblastoma" EXACT [DOID:6458, NCIT:C6905] synonym: "lipomatous medulloblastoma (formerly)" RELATED DEPRECATED [GARD:0010642] xref: DOID:6458 {source="MONDO:equivalentTo"} xref: EFO:1000159 {source="MONDO:equivalentTo"} xref: GARD:0010642 {source="MONDO:equivalentTo"} xref: ICDO:0000/0 {source="NCIT:C6905"} xref: MONDO:0006131 xref: NCIT:C6905 {source="DOID:6458", source="MONDO:equivalentTo", source="EFO:1000159", source="MONDO:exact-label-match"} xref: NCIT:C6905 {source="DOID:6458", source="MONDO:equivalentTo", source="EFO:1000159", source="exact-label-match"} xref: ONCOTREE:CLNC {source="MONDO:equivalentTo"} xref: Orphanet:251931 {source="MONDO:equivalentTo"} xref: SCTID:716592003 {source="MONDO:equivalentTo"} xref: UMLS:C1370507 {source="NCIT:C6905", source="DOID:6458", source="MONDO:equivalentTo", source="Orphanet:251931", source="ORDO:251931/e"} xref: UMLS:C1370507 {source="Orphanet:251931/e", source="NCIT:C6905", source="DOID:6458", source="MONDO:equivalentTo", source="Orphanet:251931"} is_a: MONDO:0002913 {source="DOID:6458", source="NCIT:C6905/inferred"} ! cerebellar neoplasm is_a: MONDO:0016726 {source="Orphanet:251931"} ! neuronal tumor property_value: closeMatch http://identifiers.org/snomedct/128858006 property_value: exactMatch DOID:6458 property_value: exactMatch DOID:6458 property_value: exactMatch http://identifiers.org/snomedct/716592003 property_value: exactMatch http://identifiers.org/snomedct/716592003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1370507 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1370507 property_value: exactMatch NCIT:C6905 property_value: exactMatch NCIT:C6905 property_value: exactMatch Orphanet:251931 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10642/cerebellar-liponeurocytoma xsd:anyURI {source="GARD:0010642"} [Term] id: EFO:1000160 name: Cervical Adenoid Basal Carcinoma def: "A rare low grade carcinoma that arises from the cervix. It is characterized by the presence of nests of basaloid cells with focal glandular formations." [NCIT:P378] synonym: "cervical adenoid basal cancer" EXACT [NCIT:C40213] synonym: "cervical adenoid basal carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "cervical adenoid basal carcinoma" EXACT [] {comment="preferred label from MONDO"} xref: DOID:6428 {source="MONDO:equivalentTo"} xref: EFO:1000160 {source="MONDO:equivalentTo"} xref: MONDO:0006132 xref: NCIT:C40213 {source="DOID:6428", source="MONDO:equivalentTo", source="EFO:1000160"} xref: ONCOTREE:CABC {source="MONDO:equivalentTo"} xref: UMLS:C1516403 {source="DOID:6428", source="MONDO:equivalentTo", source="NCIT:C40213"} is_a: EFO:0001061 {source="DOID:6428", source="EFO:1000160", source="NCIT:C40213"} ! cervical carcinoma property_value: exactMatch DOID:6428 property_value: exactMatch DOID:6428 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516403 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516403 property_value: exactMatch NCIT:C40213 property_value: exactMatch NCIT:C40213 [Term] id: EFO:1000161 name: Cervical Adenoid Cystic Carcinoma def: "A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present." [NCIT:C6346] subset: ordo_disease {source="Orphanet:213823"} synonym: "adenoid cystic carcinoma of cervix" EXACT [NCIT:C6346] synonym: "adenoid cystic carcinoma of cervix uteri" EXACT [NCIT:C6346] synonym: "adenoid cystic carcinoma of the cervix" EXACT [NCIT:C6346] synonym: "adenoid cystic carcinoma of the cervix uteri" EXACT [DOID:4867, NCIT:C6346] synonym: "adenoid cystic carcinoma of the uterine cervix" EXACT [NCIT:C6346] synonym: "adenoid cystic carcinoma of uterine cervix" EXACT [NCIT:C6346] synonym: "cervical adenoid cystic cancer" EXACT [NCIT:C6346] synonym: "cervical adenoid cystic carcinoma" EXACT [NCIT:C6346] synonym: "cervical adenoid cystic carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "cervical adenoid cystic carcinoma" EXACT [NCIT:C6346, Orphanet:213823] synonym: "cervical adenoid cystic carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "cervix adenoid cystic carcinoma" EXACT [NCIT:C6346] synonym: "cervix uteri adenoid cystic carcinoma" EXACT [NCIT:C6346] synonym: "uterine cervix adenoid cystic carcinoma" EXACT [NCIT:C6346] synonym: "uterine cervix adenoid cystic carcinoma" EXACT [MONDO:patterns/location, NCIT:C6346] xref: DOID:4867 {source="MONDO:equivalentTo"} xref: EFO:1000161 {source="MONDO:equivalentTo"} xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213823", source="Orphanet:213823/btnt"} xref: MONDO:0006133 xref: NCIT:C6346 {source="EFO:1000161", source="MONDO:equivalentTo", source="DOID:4867"} xref: ONCOTREE:CACC {source="MONDO:equivalentTo"} xref: Orphanet:213823 {source="MONDO:equivalentTo"} xref: UMLS:C1332911 {source="MONDO:equivalentTo", source="NCIT:C6346", source="DOID:4867"} is_a: EFO:0000231 {source="EFO:1000161", source="MONDO:0006133/inferred", source="MONDO:Redundant", source="NCIT:C6346"} ! adenoid cystic carcinoma is_a: EFO:0001416 ! cervical adenocarcinoma property_value: exactMatch DOID:4867 property_value: exactMatch DOID:4867 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332911 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332911 property_value: exactMatch NCIT:C6346 property_value: exactMatch NCIT:C6346 property_value: exactMatch Orphanet:213823 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4898 xsd:anyURI [Term] id: EFO:1000162 name: Cervical Adenosquamous Carcinoma def: "An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells." [NCIT:C4519] synonym: "adenosquamous carcinoma of cervix" EXACT [DOID:5636] synonym: "adenosquamous cell carcinoma of cervix" EXACT [NCIT:C4519] synonym: "adenosquamous cell carcinoma of cervix uteri" EXACT [NCIT:C4519] synonym: "adenosquamous cell carcinoma of the cervix" EXACT [NCIT:C4519] synonym: "adenosquamous cell carcinoma of the cervix uteri" EXACT [DOID:5636, NCIT:C4519] synonym: "adenosquamous cell carcinoma of the uterine cervix" EXACT [NCIT:C4519] synonym: "adenosquamous cell carcinoma of uterine cervix" EXACT [NCIT:C4519] synonym: "cervical adenosquamous cancer" EXACT [NCIT:C4519] synonym: "cervical adenosquamous carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "cervical adenosquamous carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "cervical adenosquamous carcinoma" EXACT [NCIT:C4519] synonym: "cervical adenosquamous cell carcinoma" EXACT [NCIT:C4519] synonym: "cervix adenosquamous cell carcinoma" EXACT [NCIT:C4519] synonym: "cervix uteri adenosquamous cell carcinoma" EXACT [NCIT:C4519] synonym: "uterine cervix adenosquamous cell carcinoma" EXACT [NCIT:C4519] xref: DOID:5636 {source="MONDO:equivalentTo"} xref: EFO:1000162 {source="MONDO:equivalentTo"} xref: MONDO:0006134 xref: NCIT:C4519 {source="EFO:1000162", source="DOID:5636", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C4519 {source="EFO:1000162", source="DOID:5636", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:CEAS {source="MONDO:equivalentTo"} xref: SCTID:254888007 {source="DOID:5636", source="MONDO:equivalentTo"} xref: UMLS:C0346202 {source="NCIT:C4519", source="DOID:5636", source="MONDO:equivalentTo"} is_a: EFO:0001416 {source="DOID:5636"} ! cervical adenocarcinoma is_a: EFO:1000073 {source="NCIT:C4519"} ! Adenosquamous Carcinoma is_a: EFO:1000172 ! cervical squamous cell carcinoma property_value: exactMatch DOID:5636 property_value: exactMatch DOID:5636 property_value: exactMatch http://identifiers.org/snomedct/254888007 property_value: exactMatch http://identifiers.org/snomedct/254888007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346202 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346202 property_value: exactMatch NCIT:C4519 property_value: exactMatch NCIT:C4519 [Term] id: EFO:1000163 name: Cervical Clear Cell Adenocarcinoma def: "A rare morphologic variant of cervical adenocarcinoma composed of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES)." [NCIT:C6344] synonym: "cervical clear cell adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "cervical clear cell adenocarcinoma" EXACT [NCIT:C6344] synonym: "cervical clear cell adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "cervical clear cell carcinoma" EXACT [NCIT:C6344] synonym: "cervix clear cell adenocarcinoma" EXACT [NCIT:C6344] synonym: "cervix clear cell carcinoma" EXACT [NCIT:C6344] synonym: "cervix uteri clear cell adenocarcinoma" EXACT [NCIT:C6344] synonym: "cervix uteri clear cell carcinoma" EXACT [NCIT:C6344] synonym: "clear cell adenocarcinoma of cervix" EXACT [NCIT:C6344] synonym: "clear cell adenocarcinoma of cervix uteri" EXACT [NCIT:C6344] synonym: "clear cell adenocarcinoma of the cervix" EXACT [NCIT:C6344] synonym: "clear cell adenocarcinoma of the cervix uteri" EXACT [NCIT:C6344] synonym: "clear cell adenocarcinoma of the uterine cervix" EXACT [NCIT:C6344] synonym: "clear cell adenocarcinoma of uterine cervix" EXACT [NCIT:C6344] synonym: "clear cell carcinoma of cervix" EXACT [NCIT:C6344] synonym: "clear cell carcinoma of cervix uteri" EXACT [NCIT:C6344] synonym: "clear cell carcinoma of the cervix" EXACT [NCIT:C6344] synonym: "clear cell carcinoma of the cervix uteri" EXACT [DOID:5303, NCIT:C6344] synonym: "clear cell carcinoma of the uterine cervix" EXACT [NCIT:C6344] synonym: "clear cell carcinoma of uterine cervix" EXACT [NCIT:C6344] synonym: "uterine cervix clear cell adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6344] synonym: "uterine cervix clear cell carcinoma" EXACT [NCIT:C6344] xref: DOID:5303 {source="MONDO:equivalentTo"} xref: EFO:1000163 {source="MONDO:equivalentTo"} xref: MONDO:0006135 xref: NCIT:C6344 {source="EFO:1000163", source="DOID:5303", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C6344 {source="EFO:1000163", source="DOID:5303", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:CECC {source="MONDO:equivalentTo"} xref: UMLS:C1332912 {source="NCIT:C6344", source="DOID:5303", source="MONDO:equivalentTo"} is_a: EFO:0000348 {source="EFO:1000163", source="MONDO:Redundant", source="NCIT:C6344"} ! clear cell adenocarcinoma is_a: EFO:0001416 {source="DOID:5303", source="EFO:1000163", source="NCIT:C6344", source="ONCOTREE:CECC"} ! cervical adenocarcinoma property_value: exactMatch DOID:5303 property_value: exactMatch DOID:5303 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332912 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332912 property_value: exactMatch NCIT:C6344 property_value: exactMatch NCIT:C6344 [Term] id: EFO:1000164 name: Cervical Endometrioid Adenocarcinoma def: "A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium." [NCIT:C6343] synonym: "cervical endometrioid adenocarcinoma" EXACT [NCIT:C6343] synonym: "cervical endometrioid adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "cervical endometrioid adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "cervical endometrioid carcinoma" EXACT [NCIT:C6343] synonym: "cervix endometrioid adenocarcinoma" EXACT [NCIT:C6343] synonym: "cervix endometrioid carcinoma" EXACT [NCIT:C6343] synonym: "cervix uteri endometrioid adenocarcinoma" EXACT [NCIT:C6343] synonym: "cervix uteri endometrioid carcinoma" EXACT [NCIT:C6343] synonym: "endometrioid adenocarcinoma of cervix" EXACT [NCIT:C6343] synonym: "endometrioid adenocarcinoma of cervix uteri" EXACT [NCIT:C6343] synonym: "endometrioid adenocarcinoma of the cervix" EXACT [NCIT:C6343] synonym: "endometrioid adenocarcinoma of the cervix uteri" EXACT [NCIT:C6343] synonym: "endometrioid adenocarcinoma of the uterine cervix" EXACT [NCIT:C6343] synonym: "endometrioid adenocarcinoma of uterine cervix" EXACT [NCIT:C6343] synonym: "endometrioid carcinoma of cervix" EXACT [NCIT:C6343] synonym: "endometrioid carcinoma of cervix uteri" EXACT [NCIT:C6343] synonym: "endometrioid carcinoma of the cervix" EXACT [NCIT:C6343] synonym: "endometrioid carcinoma of the cervix uteri" EXACT [DOID:5830, NCIT:C6343] synonym: "endometrioid carcinoma of the uterine cervix" EXACT [NCIT:C6343] synonym: "endometrioid carcinoma of uterine cervix" EXACT [NCIT:C6343] synonym: "uterine cervix endometrioid adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6343] synonym: "uterine cervix endometrioid carcinoma" EXACT [NCIT:C6343] xref: DOID:5830 {source="MONDO:equivalentTo"} xref: EFO:1000164 {source="MONDO:equivalentTo"} xref: MONDO:0003665 xref: NCIT:C6343 {source="DOID:5830", source="EFO:1000164", source="MONDO:equivalentTo"} xref: ONCOTREE:CEEN {source="MONDO:equivalentTo"} xref: UMLS:C1332913 {source="DOID:5830", source="NCIT:C6343", source="MONDO:equivalentTo"} is_a: EFO:0000466 {source="MONDO:Redundant", source="NCIT:C6343"} ! endometrioid carcinoma is_a: EFO:0001416 {source="DOID:5830", source="NCIT:C6343", source="ONCOTREE:CEEN"} ! cervical adenocarcinoma property_value: exactMatch DOID:5830 property_value: exactMatch DOID:5830 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332913 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332913 property_value: exactMatch NCIT:C6343 property_value: exactMatch NCIT:C6343 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:1000165 name: Cervical Glandular Intraepithelial Neoplasia def: "A neoplastic process that affects the glandular epithelial cells of the cervix. There is no evidence of invasion. It is classified as low or high grade." [] xref: NCIt:C7673 is_a: EFO:0003859 ! uterine neoplasm [Term] id: EFO:1000166 name: Cervical Intraepithelial Neoplasia Grade 2/3 def: "A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia." [NCIT:P378] synonym: "cervical intraepithelial neoplasia grade 2/3" EXACT [] {comment="preferred label from MONDO"} synonym: "cervical intraepithelial neoplasia grade 2/3" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "CIN 2/3" EXACT [NCIT:C94676] xref: EFO:1000166 {source="MONDO:equivalentTo"} xref: MONDO:0006137 xref: NCIT:C94676 {source="EFO:1000166", source="MONDO:equivalentTo"} xref: UMLS:C2986622 {source="NCIT:C94676", source="MONDO:equivalentTo"} is_a: EFO:0001416 ! cervical adenocarcinoma is_a: MONDO:0022394 {source="NCIT:C94676"} ! cervical intraepithelial neoplasia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2986622 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2986622 property_value: exactMatch NCIT:C94676 property_value: exactMatch NCIT:C94676 property_value: excluded_subClassOf MONDO:0005153 {source="EFO:1000166"} property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1000167 name: Cervical Large Cell Neuroendocrine Carcinoma def: "A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli." [NCIT:C40214] synonym: "cervical large cell neuroendocrine carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "cervical large cell neuroendocrine carcinoma" EXACT [MONDO:0003961, NCIT:C40214] synonym: "cervical large cell neuroendocrine carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "cervical neuroendocrine tumor" RELATED [ONCOTREE:CENE] synonym: "cervical neuroendocrine tumour" RELATED OMO:0003005 [] xref: DOID:6659 {source="MONDO:equivalentTo"} xref: EFO:1000167 {source="MONDO:equivalentTo"} xref: MONDO:0006138 xref: NCIT:C40214 {source="DOID:6659", source="MONDO:equivalentTo", source="EFO:1000167"} xref: ONCOTREE:CENE {source="MONDO:equivalentTo"} xref: UMLS:C1516417 {source="DOID:6659", source="MONDO:equivalentTo", source="NCIT:C40214"} is_a: EFO:0000563 {source="EFO:1000167", source="NCIT:C40214"} ! large cell neuroendocrine carcinoma is_a: EFO:0001061 {source="DOID:6659", source="EFO:1000167", source="MONDO:Entailed", source="NCIT:C40214/inferred"} ! cervical carcinoma property_value: exactMatch DOID:6659 property_value: exactMatch DOID:6659 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516417 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516417 property_value: exactMatch NCIT:C40214 property_value: exactMatch NCIT:C40214 [Term] id: EFO:1000168 name: Cervical Metaplasia def: "Metaplastic changes in the cervical glandular or squamous epithelium." [NCIT:P378] synonym: "cervical metaplasia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "cervical metaplasia" EXACT [] {comment="preferred label from MONDO"} xref: EFO:1000168 {source="MONDO:equivalentTo"} xref: MONDO:0006139 xref: UMLS:C0281796 {source="MONDO:equivalentTo"} is_a: EFO:0001416 ! cervical adenocarcinoma is_a: MONDO:0002256 {source="https://orcid.org/0000-0001-5208-3432"} ! cervix disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0281796 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0281796 property_value: exactMatch NCIT:C4056 property_value: excluded_subClassOf MONDO:0005153 {source="EFO:1000168"} [Term] id: EFO:1000169 name: Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant def: "A rare, extremely well differentiated cervical mucinous adenocarcinoma in which most of the neoplastic glands cannot be distinguished from the normal endocervical glands." [NCIT:C40206] synonym: "cervical adenoma malignum" EXACT [MONDO:0003949, NCIT:C40206] synonym: "cervical mucinous adenocarcinoma, minimal deviation type" EXACT [NCIT:C40206] synonym: "cervical mucinous adenocarcinoma, minimal deviation variant" EXACT [NCIT:C40206] synonym: "cervical mucinous adenocarcinoma, minimal deviation variant" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "cervical mucinous adenocarcinoma, minimal deviation variant" EXACT [] {comment="preferred label from MONDO"} xref: DOID:6627 {source="MONDO:equivalentTo"} xref: EFO:1000169 {source="MONDO:equivalentTo"} xref: MONDO:0006140 xref: NCIT:C40206 {source="MONDO:equivalentTo", source="DOID:6627", source="EFO:1000169"} xref: UMLS:C1516423 {source="NCIT:C40206", source="MONDO:equivalentTo", source="DOID:6627"} is_a: MONDO:0002742 {source="DOID:6627", source="NCIT:C40206"} ! cervical mucinous adenocarcinoma property_value: exactMatch DOID:6627 property_value: exactMatch DOID:6627 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516423 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516423 property_value: exactMatch NCIT:C40206 property_value: exactMatch NCIT:C40206 [Term] id: EFO:1000170 name: Cervical Mucinous Adenocarcinoma, Villoglandular Variant def: "A cervical adenocarcinoma characterized by the presence of a prominent villoglandular pattern." [NCIT:C40208] synonym: "cervical adenocarcinoma, villoglandular variant" EXACT [NCIT:C40208] synonym: "cervical villoglandular adenocarcinoma" EXACT [NCIT:C40208] synonym: "cervical villoglandular adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "cervical villoglandular adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "cervical villoglandular carcinoma" EXACT [NCIT:C40208] synonym: "villoglandular adenocarcinoma of the cervix" RELATED [ONCOTREE:VGCE] synonym: "villoglandular variant cervical mucinous adenocarcinoma" EXACT [MONDO:0004536] xref: DOID:8338 {source="MONDO:equivalentTo"} xref: EFO:1000170 {source="MONDO:equivalentTo"} xref: MONDO:0006141 xref: NCIT:C40208 {source="DOID:8338", source="MONDO:equivalentTo", source="EFO:1000170"} xref: ONCOTREE:VGCE {source="MONDO:equivalentTo"} xref: UMLS:C4289808 {source="MONDO:equivalentTo"} is_a: MONDO:0002742 {source="DOID:8338"} ! cervical mucinous adenocarcinoma is_a: MONDO:0003204 {source="MONDO:Redundant", source="NCIT:C40208"} ! villous adenocarcinoma property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1516425 property_value: exactMatch DOID:8338 property_value: exactMatch DOID:8338 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4289808 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4289808 property_value: exactMatch NCIT:C40208 property_value: exactMatch NCIT:C40208 [Term] id: EFO:1000171 name: Cervical Small Cell Carcinoma def: "A small cell carcinoma arising from the cervix." [NCIT:C7982] synonym: "Cervical small cell cancer" EXACT [NCIT:C7982] synonym: "cervical small cell carcinoma" EXACT [NCIT:C7982] synonym: "cervical small cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "cervical small cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "cervix small cell carcinoma" EXACT [MONDO:0003981, NCIT:C7982] synonym: "cervix uteri small cell carcinoma" EXACT [NCIT:C7982] synonym: "SCCE" RELATED ABBREVIATION [ONCOTREE:SCCE] synonym: "small cell carcinoma of cervix" EXACT [NCIT:C7982] synonym: "small cell carcinoma of cervix uteri" EXACT [NCIT:C7982] synonym: "small cell carcinoma of the cervix" EXACT [DOID:6740, NCIT:C7982] synonym: "small cell carcinoma of the cervix uteri" EXACT [DOID:6740, NCIT:C7982] synonym: "small cell carcinoma of the uterine cervix" EXACT [NCIT:C7982] synonym: "small cell carcinoma of uterine cervix" EXACT [NCIT:C7982] synonym: "uterine cervix small cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C7982] xref: DOID:6740 {source="MONDO:equivalentTo"} xref: EFO:1000171 {source="MONDO:equivalentTo"} xref: MONDO:0006142 xref: NCIT:C7982 {source="DOID:6740", source="MONDO:equivalentTo", source="EFO:1000171"} xref: NCIT:C7982 {source="DesignPattern", source="DOID:6740", source="MONDO:equivalentTo", source="EFO:1000171"} xref: ONCOTREE:SCCE {source="MONDO:equivalentTo"} xref: UMLS:C0279674 {source="DOID:6740", source="NCIT:C7982", source="MONDO:equivalentTo"} is_a: EFO:0001061 {source="DOID:6740", source="EFO:1000171", source="MONDO:Redundant", source="NCIT:C7982/inferred"} ! cervical carcinoma is_a: EFO:0008524 {source="MONDO:Redundant", source="NCIT:C7982"} ! small cell carcinoma property_value: exactMatch DOID:6740 property_value: exactMatch DOID:6740 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279674 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279674 property_value: exactMatch NCIT:C7982 property_value: exactMatch NCIT:C7982 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/small_cell_carcinoma.yaml [Term] id: EFO:1000172 name: cervical squamous cell carcinoma def: "A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis." [NCIT:P378] subset: ordo_disease {source="Orphanet:213767"} synonym: "cervical squamous cell cancer" EXACT [NCIT:C4028] synonym: "cervical squamous cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "cervical squamous cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "cervical squamous cell carcinoma" EXACT [NCIT:C4028, Orphanet:213767] synonym: "cervix squamous cell carcinoma" EXACT [NCIT:C4028] synonym: "cervix uteri squamous cell carcinoma" EXACT [NCIT:C4028] synonym: "CESC" RELATED ABBREVIATION [ONCOTREE:CESC] synonym: "squamous cell carcinoma of cervix" EXACT [NCIT:C4028] synonym: "squamous cell carcinoma of cervix uteri" EXACT [NCIT:C4028] synonym: "squamous cell carcinoma of the cervix" EXACT [NCIT:C4028] synonym: "squamous cell carcinoma of the cervix uteri" EXACT [DOID:3744, NCIT:C4028] synonym: "squamous cell carcinoma of the uterine cervix" EXACT [NCIT:C4028] synonym: "squamous cell carcinoma of uterine cervix" EXACT [NCIT:C4028] synonym: "squamous cervical cancer" EXACT [NCIT:C4028] synonym: "uterine cervix squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C4028] xref: DOID:3744 {source="EFO:1000172", source="MONDO:equivalentTo"} xref: EFO:1000172 {source="MONDO:equivalentTo"} xref: ICD10:C53.0 {source="MONDO:relatedTo", source="ORDO:213767/btnt", source="Orphanet:213767"} xref: ICD10:C53.1 {source="ORDO:213767/btnt", source="Orphanet:213767"} xref: ICD10:C53.8 {source="ORDO:213767/btnt", source="Orphanet:213767"} xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213767", source="Orphanet:213767/btnt"} xref: MONDO:0006143 xref: NCIT:C4028 {source="DesignPattern", source="EFO:1000172", source="DOID:3744", source="MONDO:equivalentTo"} xref: NCIT:C4028 {source="EFO:1000172", source="DOID:3744", source="MONDO:equivalentTo"} xref: ONCOTREE:CESC {source="MONDO:equivalentTo"} xref: Orphanet:213767 {source="MONDO:equivalentTo"} xref: SCTID:254886006 {source="DOID:3744", source="MONDO:equivalentTo"} xref: UMLS:C0279671 {source="EFO:1000172", source="DOID:3744", source="MONDO:equivalentTo", source="Orphanet:213767", source="NCIT:C4028"} is_a: EFO:0000707 {source="EFO:1000172", source="MONDO:Redundant", source="NCIT:C4028"} ! squamous cell carcinoma is_a: EFO:0001061 {source="DOID:3744", source="EFO:1000172", source="MONDO:Redundant", source="NCIT:C4028"} ! cervical carcinoma property_value: exactMatch DOID:3744 property_value: exactMatch DOID:3744 property_value: exactMatch http://identifiers.org/snomedct/254886006 property_value: exactMatch http://identifiers.org/snomedct/254886006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279671 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279671 property_value: exactMatch NCIT:C4028 property_value: exactMatch NCIT:C4028 property_value: exactMatch Orphanet:213767 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/squamous_cell_carcinoma.yaml [Term] id: EFO:1000173 name: Cervical Wilms Tumor alt_id: MONDO:0003323 def: "An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney." [NCIT:C40236] synonym: "cervical Wilms tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "cervical Wilms tumor" EXACT [DOID:5190, NCIT:C40236] synonym: "cervical Wilms tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "cervical Wilms' tumor" EXACT [NCIT:C40236] synonym: "cervical Wilms' tumour" EXACT OMO:0003005 [] xref: DOID:5190 {source="MONDO:equivalentTo"} xref: EFO:1000173 {source="MONDO:equivalentTo"} xref: MONDO:0006144 xref: NCIT:C40236 {source="EFO:1000173", source="MONDO:equivalentTo", source="DOID:5190"} xref: UMLS:C1516437 {source="MONDO:equivalentTo", source="DOID:5190", source="NCIT:C40236"} is_a: MONDO:0002974 {source="DOID:5190/inferred", source="MONDO:Redundant", source="NCIT:C40236"} ! cervical cancer is_a: MONDO:0003321 ! hereditary Wilms tumor is_a: MONDO:0006058 {source="EFO:1000173", source="MONDO:Redundant", source="NCIT:C40236"} ! Wilms tumor is_a: Orphanet:654 ! Nephroblastoma property_value: exactMatch DOID:5190 property_value: exactMatch DOID:5190 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516437 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516437 property_value: exactMatch NCIT:C40236 property_value: exactMatch NCIT:C40236 property_value: excluded_subClassOf MONDO:0002877 {source="DOID:5190"} [Term] id: EFO:1000174 name: Chondroid Chordoma def: "A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. The tumor is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells and cartilage." [NCIT:C6902] synonym: "chondroid chordoma" EXACT [] {comment="preferred label from MONDO"} synonym: "chondroid chordoma" EXACT [MONDO:0002893] synonym: "chondroid chordoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "chondroid chordoma (morphologic abnormality)" EXACT [DOID:4152] xref: DOID:4152 {source="MONDO:equivalentTo"} xref: EFO:1000174 {source="MONDO:equivalentTo"} xref: ICDO:9371/3 {source="NCIT:C6902"} xref: MONDO:0006145 xref: NCIT:C6902 {source="EFO:1000174", source="MONDO:equivalentTo", source="DOID:4152"} xref: UMLS:C1266173 {source="MONDO:equivalentTo", source="DOID:4152", source="NCIT:C6902"} is_a: EFO:0009488 ! spinal cord disease is_a: MONDO:0008978 {source="DOID:4152", source="NCIT:C6902"} ! chordoma is_a: MONDO:0023603 ! hereditary disorder of connective tissue is_a: Orphanet:183527 ! Genetic bone tumor property_value: closeMatch http://identifiers.org/snomedct/128784007 property_value: exactMatch DOID:4152 property_value: exactMatch DOID:4152 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266173 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266173 property_value: exactMatch NCIT:C6902 property_value: exactMatch NCIT:C6902 [Term] id: EFO:1000175 name: Chondroid Hamartoma def: "A hamartoma that is characterized by the presence of chondroid elements." [NCIT:C42589] synonym: "chondroid hamartoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "chondroid hamartoma" EXACT [] {comment="preferred label from MONDO"} xref: EFO:1000175 {source="MONDO:equivalentTo"} xref: MONDO:0006146 xref: NCIT:C42589 {source="EFO:1000175", source="MONDO:equivalentTo"} xref: UMLS:C1707390 {source="MONDO:equivalentTo", source="NCIT:C42589"} is_a: EFO:1000634 {source="NCIT:C42589"} ! hamartoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1707390 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1707390 property_value: exactMatch NCIT:C42589 property_value: exactMatch NCIT:C42589 property_value: excluded_subClassOf MONDO:0005070 {source="EFO:1000175"} [Term] id: EFO:1000176 name: Chordoid Meningioma def: "A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma." [] xref: NCIt:C6908 is_a: EFO:0003851 ! meningeal neoplasm relationship: EFO:0000784 UBERON:0002360 ! has_disease_location meninx [Term] id: EFO:1000177 name: Choroid Plexus Papilloma def: "A benign, slow growing tumor which may cause symptoms by blocking cerebrospinal fluid pathways. It is characterized by the presence of delicate fibrovascular connective tissue fronds covered by a single layer of epithelial cells. Mitotic activity is extremely low. Surgical resection is usually curative. (Adapted from WHO)" [] xref: MedDRA:10008777 xref: NCIt:C3698 xref: OMIM:260500 is_a: EFO:0003833 ! brain neoplasm [Term] id: EFO:1000178 name: Chronic Eosinophilic Leukemia, Not Otherwise Specified def: "A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. Since acute eosinophilic leukemia is at best exceedingly rare, the term eosinophilic leukemia is normally used as a synonym for chronic eosinophilic leukemia. In cases in which it is impossible to prove clonality and there is no increase in blast cells, the diagnosis of \"idiopathic hypereosinophilic syndrome\" is preferred. (WHO, 2001)" [NCIT:C4563] synonym: "CEL" EXACT ABBREVIATION [NCIT:C4563] synonym: "CEL/hypereosinophilic syndrome" EXACT [NCIT:C4563] synonym: "CELNOS" RELATED ABBREVIATION [ONCOTREE:CELNOS] synonym: "chronic eosinophilic leukemia" EXACT [NCIT:C4563] synonym: "chronic eosinophilic leukemia, not otherwise specified" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "chronic eosinophilic leukemia/hypereosinophilic syndrome" EXACT [NCIT:C4563] synonym: "eosinophilic leukemia" EXACT [NCIT:C4563] xref: EFO:1000178 {source="MONDO:equivalentTo"} xref: ICDO:9964/3 {source="NCIT:C4563"} xref: NCIT:C4563 {source="MONDO:equivalentTo", source="EFO:1000178"} xref: ONCOTREE:CELNOS {source="MONDO:equivalentTo"} is_a: EFO:0000565 ! leukemia is_a: EFO:0004251 ! myeloproliferative disorder is_a: EFO:0009714 ! chronic disease relationship: has_modifier HP:0011010 ! Chronic property_value: exactMatch NCIT:C4563 [Term] id: EFO:1000179 name: Chronic Neutrophilic Leukemia def: "A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene." [NCIT:C3179] subset: gard_rare {source="GARD:0010585"} subset: ordo_disease {source="Orphanet:86829"} synonym: "chronic neutrophilic leukemia" EXACT [] {comment="preferred label from MONDO"} synonym: "chronic neutrophilic leukemia" EXACT [NCIT:C3179] synonym: "chronic neutrophilic leukemia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "CNL" RELATED ABBREVIATION [GARD:0010585, ONCOTREE:CNL] synonym: "neutrophilic leukaemia" EXACT OMO:0003005 [] synonym: "neutrophilic leukemia" EXACT [NCIT:C3179] xref: DOID:0080187 {source="MONDO:equivalentTo"} xref: EFO:1000179 {source="MONDO:equivalentTo"} xref: GARD:0010585 {source="MONDO:equivalentTo"} xref: ICD10:D47.1 {source="ORDO:86829/ntbt", source="Orphanet:86829"} xref: ICDO:9963/3 {source="NCIT:C3179"} xref: MESH:D015467 {source="MONDO:equivalentTo", source="ORDO:86829/e", source="Orphanet:86829"} xref: MESH:D015467 {source="Orphanet:86829/e", source="MONDO:equivalentTo", source="Orphanet:86829"} xref: MONDO:0019451 xref: NCIT:C3179 {source="DOID:0080187", source="EFO:1000179", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C3179 {source="DOID:0080187", source="EFO:1000179", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:CNL {source="MONDO:equivalentTo"} xref: Orphanet:86829 {source="MONDO:equivalentTo"} xref: SCTID:188734009 {source="MONDO:equivalentTo"} xref: UMLS:C0023481 {source="MONDO:equivalentTo", source="NCIT:C3179", source="ORDO:86829/e", source="Orphanet:86829"} xref: UMLS:C0023481 {source="Orphanet:86829/e", source="MONDO:equivalentTo", source="NCIT:C3179", source="Orphanet:86829"} xref: UMLS:C0474856 {source="MONDO:equivalentTo"} is_a: EFO:0002428 {source="MONDO:Redundant", source="NCIT:C3179", source="ONCOTREE:CNL", source="Orphanet:86829"} ! chronic myeloproliferative disorder is_a: EFO:0004251 ! myeloproliferative disorder is_a: MONDO:0001014 {source="DOID:0080187", source="NCIT:C3179"} ! chronic leukemia is_a: MONDO:0023603 ! hereditary disorder of connective tissue relationship: has_modifier HP:0011010 ! Chronic property_value: exactMatch DOID:0080187 property_value: exactMatch DOID:0080187 property_value: exactMatch http://identifiers.org/mesh/D015467 property_value: exactMatch http://identifiers.org/mesh/D015467 property_value: exactMatch http://identifiers.org/snomedct/188734009 property_value: exactMatch http://identifiers.org/snomedct/188734009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023481 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023481 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0474856 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0474856 property_value: exactMatch NCIT:C3179 property_value: exactMatch NCIT:C3179 property_value: exactMatch Orphanet:86829 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10585/chronic-neutrophilic-leukemia xsd:anyURI {source="GARD:0010585"} [Term] id: EFO:1000180 name: Clear Cell Meningioma def: "A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells." [] xref: NCIt:C4722 is_a: EFO:0003851 ! meningeal neoplasm relationship: EFO:0000784 UBERON:0002360 ! has_disease_location meninx [Term] id: EFO:1000181 name: Clear Cell Papillary Cystadenoma def: "A benign cystic glandular epithelial neoplasm characterized by the presence of neoplastic clear or hobnail cells which form papillary structures. There is no evidence of stromal invasion." [NCIT:C65203] synonym: "clear cell papillary cystadenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "clear cell papillary cystadenoma" EXACT [NCIT:C65203] synonym: "clear cell papillary cystadenoma" EXACT [] {comment="preferred label from MONDO"} xref: EFO:1000181 {source="MONDO:equivalentTo"} xref: ICDO:8443/0 {source="NCIT:C65203"} xref: MONDO:0006149 xref: NCIT:C65203 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000181"} xref: NCIT:C65203 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000181"} xref: UMLS:C1880102 {source="MONDO:equivalentTo", source="NCIT:C65203"} is_a: MONDO:0021091 {source="NCIT:C65203"} ! papillary cystadenoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1880102 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1880102 property_value: exactMatch NCIT:C65203 property_value: exactMatch NCIT:C65203 property_value: seeAlso https://github.com/EBISPOT/efo/issues/908 xsd:string [Term] id: EFO:1000182 name: Colon Burkitt Lymphoma def: "A rare Burkitt lymphoma that arises from the colon." [NCIT:C27465] synonym: "Burkitt lymphoma of colon" EXACT [] synonym: "Burkitts lymphoma of colon" EXACT [MONDO:design_pattern] synonym: "colon Burkitt lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "colon Burkitt lymphoma" EXACT [] {comment="preferred label from MONDO"} synonym: "colon Burkitt lymphoma" EXACT [MONDO:patterns/location] synonym: "colon Burkitt's lymphoma" EXACT [NCIT:C27465] synonym: "colon Burkitts lymphoma" EXACT [MONDO:patterns/location] synonym: "primary colon Burkitt's lymphoma" EXACT [NCIT:C27465] xref: EFO:1000182 {source="MONDO:equivalentTo"} xref: MONDO:0006150 xref: NCIT:C27465 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000182"} xref: NCIT:C27465 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000182"} xref: UMLS:C1333083 {source="NCIT:C27465", source="MONDO:equivalentTo"} is_a: EFO:0000309 {source="EFO:1000182", source="MONDO:Redundant", source="NCIT:C27465/inferred"} ! Burkitts lymphoma is_a: MONDO:0000621 ! immune system cancer is_a: MONDO:0002035 {source="MONDO:Redundant", source="NCIT:C27465/inferred"} ! colon lymphoma is_a: Orphanet:271835 ! Genetic digestive tract tumor property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333083 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333083 property_value: exactMatch NCIT:C27465 property_value: exactMatch NCIT:C27465 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:1000183 name: Colon Dysplasia def: "A morphologic finding indicating the presence of dysplastic glandular epithelial cells in the colonic mucosa. There is no evidence of invasion." [NCIT:P378] comment: Editor notes: not in NCIT neoplas subset synonym: "colon dysplasia" EXACT [] {comment="preferred label from MONDO"} synonym: "colonic dysplasia" EXACT [NCIT:C4847] synonym: "dysplasia of colon" EXACT [NCIT:C4847] synonym: "dysplasia of the colon" EXACT [NCIT:C4847] xref: MedDRA:10071161 xref: MONDO:0006151 xref: NCIT:C4847 {source="EFO:1000183", source="MONDO:equivalentTo", source="MONDO:otherHierarchy"} xref: NCIt:C4847 xref: SCTID:308870004 {source="MONDO:equivalentTo"} xref: UMLS:C1302363 {source="MONDO:equivalentTo"} is_a: MONDO:0003409 {source="https://orcid.org/0000-0001-5208-3432"} ! colonic disorder property_value: exactMatch http://identifiers.org/snomedct/308870004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1302363 property_value: exactMatch NCIT:C4847 [Term] id: EFO:1000184 name: Colon Inflammatory Polyp def: "A non-neoplastic polypoid lesion in the colon. It may arise in a background of inflammatory bowel disease or colitis. It is characterized by the presence of a distorted epithelium, inflammation, and fibrosis." [NCIT:P378] synonym: "colon inflammatory polyp" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "colon inflammatory polyp" EXACT [] {comment="preferred label from MONDO"} synonym: "colonic inflammatory polyp" EXACT [NCIT:C5517] synonym: "inflammatory polyp of colon" EXACT [NCIT:C5517] synonym: "inflammatory polyp of the colon" EXACT [NCIT:C5517] xref: EFO:1000184 {source="MONDO:equivalentTo"} xref: MONDO:0006152 xref: NCIT:C5517 {source="EFO:1000184", source="MONDO:equivalentTo"} xref: UMLS:C0267392 {source="MONDO:equivalentTo", source="NCIT:C5517"} is_a: EFO:0004288 {source="EFO:1000184", source="MONDO:Redundant", source="MONDO:indirect"} ! colonic neoplasm is_a: MONDO:0021400 {source="MONDO:Redundant", source="NCIT:C5517"} ! polyp of colon property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267392 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267392 property_value: exactMatch NCIT:C5517 property_value: exactMatch NCIT:C5517 [Term] id: EFO:1000185 name: Colon Juvenile Polyp def: "A non-neoplastic hamartomatous polyp that arises from the colon. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." [NCIT:P378] synonym: "colon juvenile polyp" EXACT [] {comment="preferred label from MONDO"} synonym: "colon retention polyp" EXACT [NCIT:C5518] synonym: "colonic juvenile polyp" EXACT [NCIT:C5518] synonym: "colonic retention polyp" EXACT [NCIT:C5518] synonym: "juvenile polyp of colon" EXACT [NCIT:C5518] synonym: "juvenile polyp of the colon" EXACT [NCIT:C5518] synonym: "retention polyp of colon" EXACT [NCIT:C5518] synonym: "retention polyp of the colon" EXACT [NCIT:C5518] xref: MONDO:0006153 xref: NCIT:C5518 {source="EFO:1000185", source="MONDO:equivalentTo"} xref: NCIt:C5518 xref: UMLS:C1333090 {source="MONDO:equivalentTo", source="NCIT:C5518"} is_a: EFO:0004288 ! colonic neoplasm is_a: EFO:1000194 {source="NCIT:C5518"} ! Colorectal Juvenile Polyp is_a: MONDO:0021400 {source="MONDO:Redundant", source="NCIT:C5518"} ! polyp of colon property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333090 property_value: exactMatch NCIT:C5518 [Term] id: EFO:1000186 name: Colon Mucosa-Associated Lymphoid Tissue Lymphoma def: "An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the colon." [NCIT:C5498] synonym: "colon MALT lymphoma" EXACT [NCIT:C5498] synonym: "colon MALToma" EXACT [NCIT:C5498] synonym: "colon mucosa-associated lymphoid tissue lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "colon mucosa-associated lymphoid tissue lymphoma" EXACT [] {comment="preferred label from MONDO"} synonym: "colonic MALT lymphoma" EXACT [NCIT:C5498] synonym: "colonic MALToma" EXACT [NCIT:C5498] synonym: "colonic mucosa-associated lymphoid tissue lymphoma" EXACT [NCIT:C5498] synonym: "MALT lymphoma of colon" EXACT [NCIT:C5498] synonym: "MALT lymphoma of the colon" EXACT [NCIT:C5498] synonym: "MALToma of colon" EXACT [NCIT:C5498] synonym: "MALToma of the colon" EXACT [NCIT:C5498] xref: EFO:1000186 {source="MONDO:equivalentTo"} xref: MONDO:0006154 xref: NCIT:C5498 {source="EFO:1000186", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C5498 {source="EFO:1000186", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1333096 {source="MONDO:equivalentTo", source="NCIT:C5498"} is_a: MONDO:0002035 {source="NCIT:C5498/inferred"} ! colon lymphoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333096 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333096 property_value: exactMatch NCIT:C5498 property_value: exactMatch NCIT:C5498 [Term] id: EFO:1000187 name: obsolete_colon neoplasm property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.69" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate of class 'colonic neoplasm'" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0004288 [Term] id: EFO:1000188 name: Colon Neuroendocrine Tumor G1 def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:C5497] synonym: "carcinoid tumor of colon" EXACT [NCIT:C5497] synonym: "carcinoid tumor of the colon" EXACT [NCIT:C5497] synonym: "carcinoid tumour of colon" EXACT OMO:0003005 [] synonym: "carcinoid tumour of the colon" EXACT OMO:0003005 [] synonym: "colon carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1, NCIT:C5497] synonym: "colon carcinoid tumor (disease)" EXACT [MONDO:patterns/location] synonym: "colon carcinoid tumour" EXACT OMO:0003005 [] synonym: "colon carcinoid tumour (disease)" EXACT OMO:0003005 [] synonym: "colon NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1, NCIT:C5497] synonym: "colon neuroendocrine neoplasm G1" EXACT [] synonym: "colon neuroendocrine tumor G1" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "colon neuroendocrine tumor G1" EXACT [] {comment="preferred label from MONDO"} synonym: "colon neuroendocrine tumor G1" EXACT [NCIT:C5497] synonym: "colon neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "colonic carcinoid tumor" EXACT [NCIT:C5497] synonym: "colonic carcinoid tumour" EXACT OMO:0003005 [] synonym: "grade 1 neuroendocrine neoplasm of colon" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] xref: EFO:1000188 {source="MONDO:equivalentTo"} xref: MONDO:0006155 xref: NCIT:C5497 {source="EFO:1000188", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C5497 {source="DesignPattern", source="EFO:1000188", source="MONDO:equivalentTo", source="exact-label-match"} is_a: EFO:1000195 {source="MONDO:Redundant", source="NCIT:C5497"} ! Colorectal Neuroendocrine Tumor G1 is_a: MONDO:0015067 ! neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1333084 property_value: exactMatch NCIT:C5497 property_value: exactMatch NCIT:C5497 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/neuroendocrine_neoplasm_grade1.yaml [Term] id: EFO:1000189 name: Colon Sessile Serrated Adenoma/Polyp def: "A polyp that arises from the colon. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colonic adenocarcinomas with microsatellite instability." [NCIT:C96464] synonym: "colon sessile serrated adenoma" EXACT [NCIT:C96464] synonym: "colon sessile serrated adenoma/polyp" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "colon sessile serrated adenoma/polyp" EXACT [] {comment="preferred label from MONDO"} synonym: "colon sessile serrated adenoma/polyp" EXACT [NCIT:C96464] synonym: "colon sessile serrated polyp" EXACT [NCIT:C96464] synonym: "colon SSA" EXACT [NCIT:C96464] synonym: "colon SSA/P" EXACT [NCIT:C96464] synonym: "colon SSP" EXACT [NCIT:C96464] xref: EFO:1000189 {source="MONDO:equivalentTo"} xref: MONDO:0006156 xref: NCIT:C96464 {source="MONDO:equivalentTo", source="EFO:1000189", source="MONDO:exact-label-match"} xref: NCIT:C96464 {source="MONDO:equivalentTo", source="EFO:1000189", source="exact-label-match"} xref: UMLS:C3272791 {source="MONDO:equivalentTo", source="NCIT:C96464"} is_a: EFO:1000197 {source="NCIT:C96464"} ! Colorectal Sessile Serrated Adenoma/Polyp is_a: MONDO:0000527 {source="MONDO:Redundant", source="NCIT:C96464"} ! colon adenoma is_a: MONDO:0021400 {source="MONDO:Redundant", source="NCIT:C96464"} ! polyp of colon property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3272791 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3272791 property_value: exactMatch NCIT:C96464 property_value: exactMatch NCIT:C96464 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql [Term] id: EFO:1000190 name: Colorectal Adenosquamous Carcinoma def: "An unusual colorectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas." [NCIT:C43589] synonym: "colorectal (colon or rectal) adenosquamous cancer" EXACT [NCIT:C43589] synonym: "colorectal adenosquamous cancer" EXACT [NCIT:C43589] synonym: "colorectal adenosquamous carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "colorectal adenosquamous carcinoma" EXACT [NCIT:C43589] synonym: "colorectal adenosquamous carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "colorectum adenosquamous carcinoma" EXACT [MONDO:patterns/location] xref: EFO:1000190 {source="MONDO:equivalentTo"} xref: MONDO:0006157 xref: NCIT:C43589 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000190"} xref: NCIT:C43589 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000190"} xref: UMLS:C1707437 {source="MONDO:equivalentTo", source="NCIT:C43589"} is_a: EFO:1000073 {source="MONDO:Redundant", source="NCIT:C43589"} ! Adenosquamous Carcinoma is_a: EFO:1000198 ! Colorectal Squamous Cell Carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1707437 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1707437 property_value: exactMatch NCIT:C43589 property_value: exactMatch NCIT:C43589 property_value: http://purl.org/dc/terms/conformsTo adenosquamous:carcinoma.yaml [Term] id: EFO:1000191 name: Colorectal Diffuse Large B-Cell Lymphoma def: "A diffuse large B-cell lymphoma that arises from the colon or rectum." [NCIT:C96503] synonym: "colorectal diffuse large B-cell lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "colorectal diffuse large B-cell lymphoma" EXACT [NCIT:C96503] synonym: "colorectal diffuse large B-cell lymphoma" EXACT [] {comment="preferred label from MONDO"} synonym: "colorectal DLBCL" EXACT [NCIT:C96503] synonym: "colorectum diffuse large B-cell lymphoma" EXACT [MONDO:patterns/location] synonym: "diffuse large B-cell lymphoma of colorectum" EXACT [MONDO:design_pattern] xref: EFO:1000191 {source="MONDO:equivalentTo"} xref: MONDO:0006158 xref: NCIT:C96503 {source="MONDO:equivalentTo", source="EFO:1000191", source="exact-label-match"} xref: NCIT:C96503 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000191"} xref: UMLS:C3272827 {source="NCIT:C96503", source="MONDO:equivalentTo"} is_a: EFO:0000403 {source="EFO:1000191", source="MONDO:Redundant", source="NCIT:C96503"} ! diffuse large B-cell lymphoma is_a: MONDO:0000621 ! immune system cancer is_a: MONDO:0024656 ! colorectal lymphoma relationship: EFO:0000784 CL:0000945 ! has_disease_location lymphocyte of B lineage property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3272827 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3272827 property_value: exactMatch NCIT:C96503 property_value: exactMatch NCIT:C96503 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:1000192 name: Colorectal Gastrointestinal Stromal Tumor def: "A gastrointestinal stromal tumor that arises from the colon or rectum. The majority of cases have spindle cell morphology. Gastrointestinal stromal tumors of the colon are usually advanced upon detection and tend to have a poor prognosis; gastrointestinal stromal tumors of the rectum usually have an aggressive clinical course." [NCIT:C27735] synonym: "colorectal (colon or rectal) gastrointestinal stromal tumor (gist)" EXACT [NCIT:C27735] synonym: "colorectal (colon or rectal) gastrointestinal stromal tumour (gist)" EXACT OMO:0003005 [] synonym: "colorectal gastrointestinal stromal tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "colorectal gastrointestinal stromal tumor" EXACT [NCIT:C27735] synonym: "colorectal gastrointestinal stromal tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "colorectal gastrointestinal stromal tumor (gist)" EXACT [NCIT:C27735] synonym: "colorectal gastrointestinal stromal tumour (gist)" EXACT OMO:0003005 [] synonym: "colorectal gist" EXACT [NCIT:C27735] xref: EFO:1000192 {source="MONDO:equivalentTo"} xref: MONDO:0006159 xref: NCIT:C27735 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000192"} xref: NCIT:C27735 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000192"} xref: UMLS:C1333109 {source="MONDO:equivalentTo", source="NCIT:C27735"} is_a: EFO:0004142 {source="EFO:1000192", source="NCIT:C27735"} ! colorectal neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333109 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333109 property_value: exactMatch NCIT:C27735 property_value: exactMatch NCIT:C27735 [Term] id: EFO:1000193 name: Colorectal Hamartoma def: "A non-neoplastic, hamartomatous polyp that arises from the colon and rectum. This group includes the juvenile polyp, Peutz-Jeghers polyp, and Cowden-associated polyp." [NCIT:C96474] synonym: "colorectal hamartoma" EXACT [] {comment="preferred label from MONDO"} synonym: "colorectal hamartoma" EXACT [NCIT:C96474] synonym: "colorectum hamartoma (disease)" EXACT [MONDO:patterns/location] synonym: "large intestinal hamartoma" EXACT [NCIT:C96474] xref: MONDO:0006160 xref: NCIT:C96474 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000193"} xref: NCIt:C96474 xref: UMLS:C3272801 {source="MONDO:equivalentTo", source="NCIT:C96474"} is_a: EFO:0004142 ! colorectal neoplasm is_a: EFO:1000280 {source="NCIT:C96474"} ! Gastrointestinal Hamartoma is_a: MONDO:0021392 {source="MONDO:Redundant", source="NCIT:C96474"} ! polyp of large intestine property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3272801 property_value: exactMatch NCIT:C96474 [Term] id: EFO:1000194 name: Colorectal Juvenile Polyp def: "A non-neoplastic hamartomatous polyp that arises from the colon and rectum. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." [NCIT:P378] synonym: "colorectal juvenile polyp" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "colorectal juvenile polyp" EXACT [] {comment="preferred label from MONDO"} synonym: "colorectal retention polyp" EXACT [NCIT:C5681] synonym: "juvenile polyp of large bowel" EXACT [NCIT:C5681] synonym: "juvenile polyp of the large bowel" EXACT [NCIT:C5681] synonym: "large bowel juvenile polyp" EXACT [NCIT:C5681] synonym: "large intestinal juvenile polyp" EXACT [NCIT:C5681] xref: EFO:1000194 {source="MONDO:equivalentTo"} xref: MONDO:0006161 xref: NCIT:C5681 {source="EFO:1000194", source="MONDO:equivalentTo"} is_a: EFO:1000193 {source="MONDO:Redundant", source="NCIT:C5681"} ! Colorectal Hamartoma is_a: EFO:1000310 {source="NCIT:C5681"} ! Juvenile Polyp property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1377708 property_value: exactMatch NCIT:C5681 property_value: exactMatch NCIT:C5681 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql [Term] id: EFO:1000195 name: Colorectal Neuroendocrine Tumor G1 def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon or rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:C96160] synonym: "colorectal carcinoid tumor" EXACT [NCIT:C96160] synonym: "colorectal carcinoid tumour" EXACT OMO:0003005 [] synonym: "colorectal NET G1" EXACT [NCIT:C96160] synonym: "colorectal neuroendocrine tumor G1" EXACT [NCIT:C96160] synonym: "colorectal neuroendocrine tumor G1" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "colorectal neuroendocrine tumor G1" EXACT [] {comment="preferred label from MONDO"} synonym: "colorectum carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "colorectum carcinoid tumour" EXACT OMO:0003005 [] synonym: "colorectum NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "colorectum neuroendocrine neoplasm G1" EXACT [] synonym: "colorectum neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "grade 1 neuroendocrine neoplasm of colorectum" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "large intestinal neuroendocrine tumor G1" EXACT [NCIT:C96160] synonym: "large intestinal neuroendocrine tumour G1" EXACT OMO:0003005 [] xref: EFO:1000195 {source="MONDO:equivalentTo"} xref: MONDO:0006162 xref: NCIT:C96160 {source="EFO:1000195", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C96160 {source="EFO:1000195", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C3272611 {source="NCIT:C96160", source="MONDO:equivalentTo"} is_a: EFO:0004142 {source="EFO:1000195", source="MONDO:Redundant", source="NCIT:C96160/inferred"} ! colorectal neoplasm is_a: MONDO:0021533 ! intestinal neuroendocrine tumor G1 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3272611 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3272611 property_value: exactMatch NCIT:C96160 property_value: exactMatch NCIT:C96160 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/neuroendocrine_neoplasm_grade1.yaml [Term] id: EFO:1000196 name: Colorectal Serrated Adenocarcinoma def: "A rare, invasive colorectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture." [NCIT:C96485] synonym: "colorectal serrated adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "colorectal serrated adenocarcinoma" EXACT [NCIT:C96485] synonym: "colorectal serrated adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} xref: EFO:1000196 {source="MONDO:equivalentTo"} xref: ICDO:8213/3 {source="NCIT:C96485"} xref: MONDO:0006163 xref: NCIT:C96485 {source="EFO:1000196", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C96485 {source="EFO:1000196", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C3272809 {source="MONDO:equivalentTo", source="NCIT:C96485"} is_a: EFO:0000365 {source="EFO:1000196", source="NCIT:C96485"} ! colorectal adenocarcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3272809 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3272809 property_value: exactMatch NCIT:C96485 property_value: exactMatch NCIT:C96485 [Term] id: EFO:1000197 name: Colorectal Sessile Serrated Adenoma/Polyp def: "A polyp that arises from the colon or rectum. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colorectal adenocarcinomas with microsatellite instability." [NCIT:C83176] synonym: "colorectal mixed hyperplastic adenomatous polyp" EXACT [NCIT:C83176] synonym: "colorectal mixed hyperplastic adenomatous polyp/serrated adenoma" EXACT [NCIT:C83176] synonym: "colorectal sessile serrated adenoma" EXACT [NCIT:C83176] synonym: "colorectal sessile serrated adenoma/polyp" EXACT [NCIT:C83176] synonym: "colorectal sessile serrated adenoma/polyp" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "colorectal sessile serrated adenoma/polyp" EXACT [] {comment="preferred label from MONDO"} synonym: "colorectal sessile serrated polyp" EXACT [NCIT:C83176] synonym: "colorectal SSA" EXACT [NCIT:C83176] synonym: "colorectal SSA/P" EXACT [NCIT:C83176] synonym: "colorectal SSP" EXACT [NCIT:C83176] xref: EFO:1000197 {source="MONDO:equivalentTo"} xref: MONDO:0006164 xref: NCIT:C83176 {source="EFO:1000197", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C83176 {source="EFO:1000197", source="MONDO:equivalentTo", source="exact-label-match"} xref: UMLS:C2826783 {source="MONDO:equivalentTo", source="NCIT:C83176"} is_a: EFO:0005406 {source="EFO:1000197", source="NCIT:C83176"} ! colorectal adenoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2826783 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2826783 property_value: exactMatch NCIT:C83176 property_value: exactMatch NCIT:C83176 [Term] id: EFO:1000198 name: Colorectal Squamous Cell Carcinoma def: "A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate." [NCIT:C43588] synonym: "colorectal (colon or rectal) squamous cell cancer" EXACT [NCIT:C43588] synonym: "colorectal squamous cell cancer" EXACT [NCIT:C43588] synonym: "colorectal squamous cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "colorectal squamous cell carcinoma" EXACT [NCIT:C43588] synonym: "colorectal squamous cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "colorectum squamous cell carcinoma" EXACT [MONDO:patterns/location] xref: EFO:1000198 {source="MONDO:equivalentTo"} xref: MONDO:0006165 xref: NCIT:C43588 {source="EFO:1000198", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C43588 {source="EFO:1000198", source="MONDO:equivalentTo", source="exact-label-match"} xref: UMLS:C1707442 {source="MONDO:equivalentTo", source="NCIT:C43588"} is_a: EFO:0000707 {source="EFO:1000198", source="MONDO:Redundant", source="NCIT:C43588"} ! squamous cell carcinoma is_a: EFO:1001951 ! colorectal carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1707442 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1707442 property_value: exactMatch NCIT:C43588 property_value: exactMatch NCIT:C43588 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/squamous_cell_carcinoma.yaml [Term] id: EFO:1000199 name: Columnar Cell Hyperplasia of the Breast def: "A columnar cell lesion characterized by the presence of enlarged terminal ductal lobular units with dilated acini. The acini are lined by more than two layers of columnar epithelial cells. Prominent apical cytoplasmic snouts are present. Secretions are often present in the lumina of the dilated acini." [NCIT:P378] synonym: "CCH" EXACT ABBREVIATION [NCIT:C54183] synonym: "columnar cell hyperplasia of breast" EXACT [NCIT:C54183] synonym: "columnar cell hyperplasia of the breast" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0006166 xref: NCIT:C54183 {source="EFO:1000199", source="MONDO:equivalentTo"} xref: NCIt:C54183 xref: UMLS:C1707446 {source="NCIT:C54183", source="MONDO:equivalentTo"} is_a: EFO:0000536 {source="EFO:1000199", source="NCIT:C54183/inferred"} ! hyperplasia is_a: EFO:0003869 ! breast neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1707446 property_value: exactMatch NCIT:C54183 [Term] id: EFO:1000200 name: Combined Lung Carcinoma def: "A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells." [NCIT:C7591] synonym: "combined carcinoma of lung" EXACT [NCIT:C7591] synonym: "combined carcinoma of the lung" EXACT [NCIT:C7591] synonym: "combined lung cancer" EXACT [NCIT:C7591] synonym: "combined lung carcinoma" EXACT [NCIT:C7591] synonym: "combined lung carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "combined lung carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:1000200 {source="MONDO:equivalentTo"} xref: MONDO:0006167 xref: NCIT:C7591 {source="MONDO:equivalentTo", source="EFO:1000200", source="exact-label-match"} xref: NCIT:C7591 {source="MONDO:equivalentTo", source="EFO:1000200", source="MONDO:exact-label-match"} xref: UMLS:C1333123 {source="MONDO:equivalentTo", source="NCIT:C7591"} is_a: EFO:0001071 {source="EFO:1000200", source="MONDO:Redundant", source="NCIT:C7591"} ! lung carcinoma is_a: EFO:0005220 {source="MONDO:Redundant", source="NCIT:C7591/inferred"} ! pulmonary neuroendocrine tumor is_a: EFO:1000356 {source="NCIT:C7591"} ! Malignant Mixed Neoplasm is_a: MONDO:0002120 {source="MONDO:Redundant", source="NCIT:C7591"} ! neuroendocrine carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333123 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333123 property_value: exactMatch NCIT:C7591 property_value: exactMatch NCIT:C7591 [Term] id: EFO:1000201 name: Common Hematopoietic Neoplasm def: "URL: https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7588&ns=NCI_Thesaurus" [] synonym: "common hematopoietic tumor" EXACT [] xref: ICD10:D47 xref: NCIt:C7588 is_a: EFO:0000616 ! neoplasm is_a: EFO:0005803 ! hematologic disease [Term] id: EFO:1000202 name: Complex Endometrial Hyperplasia def: "A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures. Epithelial atypia may be present or absent." [NCIT:P378] synonym: "complex endometrial hyperplasia" EXACT [] {comment="preferred label from MONDO"} xref: ICD9:621.32 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MONDO:0006169 xref: NCIT:C35423 {source="MONDO:equivalentTo", source="EFO:1000202"} xref: NCIt:C35423 xref: SCTID:198322002 {source="MONDO:equivalentTo"} xref: UMLS:C0349578 {source="MONDO:equivalentTo", source="NCIT:C35423"} is_a: EFO:0000536 {source="EFO:1000202", source="NCIT:C35423/inferred"} ! hyperplasia is_a: EFO:0009549 ! female reproductive system disease property_value: exactMatch http://identifiers.org/snomedct/198322002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349578 property_value: exactMatch NCIT:C35423 [Term] id: EFO:1000203 name: Conjunctival Disorder def: "Any disorder of the conjunctiva." [NCIT:C27605] def: "Any disorder of the conjunctiva. " [] synonym: "conjunctiva disease" EXACT [MONDO:patterns/location] synonym: "conjunctiva disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "conjunctival disease" EXACT [NCIT:C27605] synonym: "conjunctival disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "conjunctival disorder" EXACT [NCIT:C27605] synonym: "disease of conjunctiva" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of conjunctiva" EXACT [] synonym: "disorder of conjunctiva" EXACT [MONDO:patterns/location_top] xref: DOID:4251 {source="MONDO:equivalentTo"} xref: ICD10:H11 xref: ICD10:H13 xref: ICD10CM:H10-H11 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: MedDRA:10061446 xref: MONDO:0006170 xref: NCIT:C27605 {source="MONDO:equivalentTo", source="EFO:1000203"} xref: NCIt:C27605 is_a: EFO:0003966 {source="EFO:1000203", source="NCIT:C27605"} ! eye disease is_a: EFO:0009546 ! eye adnexa disease property_value: exactMatch DOID:4251 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H10-H11 property_value: exactMatch NCIT:C27605 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1000204 name: Conjunctival Melanoma def: "A malignant melanoma within the conjunctiva of the eye." [NCIT:C4550] synonym: "CM" RELATED ABBREVIATION [ONCOTREE:CM] synonym: "conjunctiva melanoma" EXACT [NCIT:C4550] synonym: "conjunctiva melanoma (disease)" EXACT [MONDO:patterns/location] synonym: "conjunctival malignant melanoma" EXACT [MONDO:0002096] synonym: "conjunctival melanoma" EXACT [NCIT:C4550] synonym: "malignant conjunctiva melanoma" EXACT [NCIT:C4550] synonym: "malignant conjunctival melanoma" EXACT [NCIT:C4550] synonym: "malignant conjunctival melanoma" EXACT [] {comment="preferred label from MONDO"} synonym: "malignant conjunctival melanoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "malignant melanoma of conjunctiva" EXACT [NCIT:C4550] synonym: "malignant melanoma of the conjunctiva" EXACT [NCIT:C4550] synonym: "melanoma (disease) of conjunctiva" EXACT [] synonym: "melanoma of conjunctiva" EXACT [NCIT:C4550] synonym: "melanoma of the conjunctiva" EXACT [NCIT:C4550] xref: DOID:1751 {source="MONDO:equivalentTo"} xref: EFO:1000204 {source="MONDO:equivalentTo"} xref: GARD:0010744 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: MONDO:0002096 xref: NCIT:C4550 {source="MONDO:equivalentTo"} xref: NCIT:C4550 {source="DesignPattern", source="MONDO:equivalentTo"} xref: ONCOTREE:CM {source="MONDO:equivalentTo"} xref: Orphanet:617910 {source="MONDO:equivalentTo"} xref: SCTID:255004001 {source="DOID:1751", source="MONDO:equivalentTo"} xref: SCTID:255004001 {source="DesignPattern", source="DOID:1751", source="MONDO:equivalentTo"} xref: UMLS:C0346360 {source="DOID:1751", source="NCIT:C4550", source="MONDO:equivalentTo"} is_a: EFO:1000403 {source="MONDO:Redundant", source="NCIT:C4550", source="ONCOTREE:CM"} ! Ocular Melanoma is_a: MONDO:0003454 {source="DOID:1751", source="MONDO:Redundant", source="NCIT:C4550"} ! conjunctival cancer property_value: exactMatch DOID:1751 property_value: exactMatch DOID:1751 property_value: exactMatch http://identifiers.org/snomedct/255004001 property_value: exactMatch http://identifiers.org/snomedct/255004001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346360 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346360 property_value: exactMatch NCIT:C4550 property_value: exactMatch NCIT:C4550 property_value: exactMatch Orphanet:617910 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/melanoma.yaml [Term] id: EFO:1000205 name: Conjunctival Nevus def: "A benign melanocytic neoplasm that arises from the conjunctiva." [NCIT:C4551] synonym: "conjunctival nevus" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "conjunctival nevus" EXACT [NCIT:C4551] synonym: "conjunctival nevus" EXACT [] {comment="preferred label from MONDO"} synonym: "Nevus of conjunctiva" EXACT [NCIT:C4551] synonym: "Nevus of the conjunctiva" EXACT [NCIT:C4551] xref: DOID:0050906 {source="MONDO:equivalentTo"} xref: EFO:1000205 {source="MONDO:equivalentTo"} xref: MONDO:0006172 xref: NCIT:C4551 {source="MONDO:equivalentTo", source="EFO:1000205", source="MONDO:exact-label-match"} xref: NCIT:C4551 {source="MONDO:equivalentTo", source="EFO:1000205", source="exact-label-match"} xref: SCTID:255006004 {source="MONDO:equivalentTo"} xref: UMLS:C0346363 {source="NCIT:C4551", source="MONDO:equivalentTo"} is_a: EFO:0009675 {source="EFO:1000205", source="MONDO:Redundant", source="NCIT:C4551"} ! melanocytic nevus is_a: EFO:1000110 ! Benign Conjunctival Neoplasm property_value: exactMatch DOID:0050906 property_value: exactMatch DOID:0050906 property_value: exactMatch http://identifiers.org/snomedct/255006004 property_value: exactMatch http://identifiers.org/snomedct/255006004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346363 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346363 property_value: exactMatch NCIT:C4551 property_value: exactMatch NCIT:C4551 [Term] id: EFO:1000206 name: Conjunctival Squamous Cell Carcinoma def: "A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain." [NCIT:C4549] synonym: "conjunctiva epidermoid carcinoma" EXACT [NCIT:C4549] synonym: "conjunctiva squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C4549] synonym: "conjunctival epidermoid carcinoma" EXACT [DOID:1748, NCIT:C4549] synonym: "conjunctival squamous cell cancer" EXACT [NCIT:C4549] synonym: "conjunctival squamous cell carcinoma" EXACT [NCIT:C4549] synonym: "conjunctival squamous cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "conjunctival squamous cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "epidermoid carcinoma of conjunctiva" EXACT [NCIT:C4549] synonym: "epidermoid carcinoma of the conjunctiva" EXACT [NCIT:C4549] synonym: "invasive squamous cell carcinoma of the conjunctiva" EXACT [DOID:1748] synonym: "ocular surface squamous neoplasia" BROAD [DOID:1748] synonym: "ocular surface squamous neoplasia" EXACT [DOID:1748] synonym: "squamous cell carcinoma of conjunctiva" EXACT [DOID:1748, NCIT:C4549] synonym: "squamous cell carcinoma of the conjunctiva" EXACT [NCIT:C4549] xref: DOID:1748 {source="MONDO:equivalentTo"} xref: EFO:1000206 {source="MONDO:equivalentTo"} xref: MONDO:0006173 xref: NCIT:C4549 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:1748", source="EFO:1000206"} xref: NCIT:C4549 {source="MONDO:equivalentTo", source="DOID:1748", source="exact-label-match", source="EFO:1000206"} xref: SCTID:255003007 {source="MONDO:equivalentTo", source="DOID:1748"} xref: UMLS:C0346359 {source="MONDO:equivalentTo", source="DOID:1748", source="NCIT:C4549"} is_a: EFO:0000181 {source="MONDO:Redundant"} ! head and neck squamous cell carcinoma is_a: MONDO:0002466 {source="MONDO:Redundant", source="NCIT:C4549"} ! eye carcinoma is_a: MONDO:0003454 {source="DOID:1748", source="MONDO:Redundant", source="NCIT:C4549"} ! conjunctival cancer property_value: exactMatch DOID:1748 property_value: exactMatch DOID:1748 property_value: exactMatch http://identifiers.org/snomedct/255003007 property_value: exactMatch http://identifiers.org/snomedct/255003007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346359 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346359 property_value: exactMatch NCIT:C4549 property_value: exactMatch NCIT:C4549 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/squamous_cell_carcinoma.yaml [Term] id: EFO:1000207 name: obsolete_cortex of kidney property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.65" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate of UBERON_0001225. This term was generated by Webulous in error." xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001225 [Term] id: EFO:1000208 name: Cortisol-Producing Adrenal Cortex Adenoma def: "An adenoma of the adrenal cortex that produces cortisol. It may be associated with Cushing syndrome. Clinical presentation includes weight gain, round face, easy bruising, muscle weakness, emotional changes, hirsutism, and hypertension." [NCIT:C48449] synonym: "cortisol producing adrenal cortex adenoma" EXACT [NCIT:C48449] synonym: "cortisol producing adrenal cortical adenoma" EXACT [NCIT:C48449] synonym: "cortisol-producing adrenal cortex adenoma" EXACT [] {comment="preferred label from MONDO"} synonym: "cortisol-producing adrenal cortex adenoma" EXACT [NCIT:C48449] synonym: "cortisol-producing adrenal cortex adenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:1000208 {source="MONDO:equivalentTo"} xref: MONDO:0006174 xref: NCIT:C48449 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000208"} xref: NCIT:C48449 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000208"} xref: UMLS:C1707525 {source="MONDO:equivalentTo", source="NCIT:C48449"} is_a: EFO:0003104 {source="MONDO:Redundant", source="NCIT:C48449"} ! adrenocortical adenoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1707525 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1707525 property_value: exactMatch NCIT:C48449 property_value: exactMatch NCIT:C48449 [Term] id: EFO:1000209 name: Craniopharyngioma def: "A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO)" [NCIT:C2964] subset: ordo_disease {source="Orphanet:54595"} synonym: "Adamantinomatous tumor" RELATED [GARD:0010486] synonym: "Adamantinomatous tumour" RELATED OMO:0003005 [] synonym: "craniopharyngeal duct tumor" RELATED [GARD:0010486] synonym: "craniopharyngeal duct tumour" RELATED OMO:0003005 [] synonym: "craniopharyngioma" EXACT [] {comment="preferred label from MONDO"} synonym: "craniopharyngioma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "craniopharyngioma (morphologic abnormality)" EXACT [DOID:3840] synonym: "craniopharyngioma (WHO grade I)" EXACT [NCIT:C2964] synonym: "craniopharyngioma, benign" EXACT [NCIT:C2964] synonym: "cystoma" EXACT [NCIT:C2964] synonym: "cystoma" RELATED [NCIT:C2964] synonym: "Dysodontogenic epithelial tumor" RELATED [GARD:0010486] synonym: "Dysodontogenic epithelial tumour" RELATED OMO:0003005 [] synonym: "neoplasm of Rathke's pouch" EXACT [DOID:3840, NCIT:C2964] synonym: "Rathke pouch neoplasm" EXACT [NCIT:C2964] synonym: "Rathke pouch tumor" EXACT [NCIT:C2964] synonym: "Rathke pouch tumour" EXACT OMO:0003005 [] synonym: "Rathke's pouch neoplasm" EXACT [NCIT:C2964] synonym: "Rathke's pouch tumor" EXACT [NCIT:C2964] synonym: "Rathke's pouch tumour" EXACT OMO:0003005 [] synonym: "tumor of Rathke's pouch" EXACT [NCIT:C2964] synonym: "tumour of Rathke's pouch" EXACT OMO:0003005 [] xref: DOID:3840 {source="MONDO:equivalentTo"} xref: EFO:1000209 {source="MONDO:equivalentTo"} xref: GARD:0010486 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10:D44.4 {source="ORDO:54595/e", source="ORDO:54595/specific", source="Orphanet:54595"} xref: ICD9:237.0 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:237.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9350/1 {source="NCIT:C2964"} xref: MedDRA:10011318 {source="Orphanet:54595/e", source="Orphanet:54595"} xref: MedDRA:10011318 {source="ORDO:54595/e", source="Orphanet:54595"} xref: MESH:D003397 {source="DOID:3840", source="MONDO:equivalentTo", source="ORDO:54595/e", source="Orphanet:54595"} xref: MESH:D003397 {source="DOID:3840", source="Orphanet:54595/e", source="MONDO:equivalentTo", source="Orphanet:54595"} xref: MONDO:0018907 xref: NCIT:C2964 {source="DOID:3840", source="MONDO:equivalentTo", source="EFO:1000209"} xref: Orphanet:54595 {source="MONDO:equivalentTo"} xref: SCTID:189179009 {source="DOID:3840", source="MONDO:equivalentTo"} xref: UMLS:C0010276 {source="DOID:3840", source="MONDO:equivalentTo", source="ORDO:54595/e", source="NCIT:C2964", source="Orphanet:54595"} xref: UMLS:C0010276 {source="DOID:3840", source="Orphanet:54595/e", source="MONDO:equivalentTo", source="NCIT:C2964", source="Orphanet:54595"} is_a: MONDO:0000628 {source="DOID:3840", source="MONDO:Redundant"} ! central nervous system organ benign neoplasm is_a: MONDO:0000631 ! bone benign neoplasm is_a: MONDO:0002532 {source="NCIT:C2964"} ! squamous cell neoplasm is_a: MONDO:0002720 {source="MONDO:Redundant", source="NCIT:C2964"} ! sella turcica neoplasm is_a: MONDO:0023369 ! disorder of facial skeleton is_a: MONDO:0036976 ! benign epithelial neoplasm relationship: has_characteristic MONDO:0024491 {source="NCIT:C2964"} ! tumor grade 1, general grading system property_value: closeMatch http://identifiers.org/meddra/10011318 property_value: closeMatch http://identifiers.org/snomedct/40009002 property_value: exactMatch DOID:3840 property_value: exactMatch DOID:3840 property_value: exactMatch http://identifiers.org/meddra/10011318 property_value: exactMatch http://identifiers.org/mesh/D003397 property_value: exactMatch http://identifiers.org/mesh/D003397 property_value: exactMatch http://identifiers.org/snomedct/189179009 property_value: exactMatch http://identifiers.org/snomedct/189179009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010276 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010276 property_value: exactMatch NCIT:C2964 property_value: exactMatch NCIT:C2964 property_value: exactMatch Orphanet:54595 property_value: excluded_subClassOf MONDO:0015514 {source="MONDO:Redundant", source="Orphanet:54595"} [Term] id: EFO:1000210 name: Cribriform Carcinoma def: "A carcinoma characterized by the presence of a cribriform architectural pattern. Representative examples include the intraductal cribriform breast carcinoma and invasive cribriform breast carcinoma." [NCIT:C3680] synonym: "cribriform carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "cribriform carcinoma" EXACT [NCIT:C3680] synonym: "cribriform carcinoma" EXACT [] {comment="preferred label from MONDO"} xref: EFO:1000210 {source="MONDO:equivalentTo"} xref: ICDO:8201/3 {source="NCIT:C3680"} xref: MONDO:0006176 xref: NCIT:C3680 {source="EFO:1000210", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C3680 {source="EFO:1000210", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C0205643 {source="NCIT:C3680", source="MONDO:equivalentTo"} is_a: EFO:0000313 {source="EFO:1000210", source="MONDO:Redundant", source="NCIT:C3680"} ! carcinoma is_a: EFO:0009483 ! breast disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205643 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205643 property_value: exactMatch NCIT:C3680 property_value: exactMatch NCIT:C3680 [Term] id: EFO:1000211 name: Cutaneous Follicular Lymphoma def: "A follicular lymphoma involving the skin. A cutaneous follicular lymphoma may be metastatic to the skin from the lymph nodes or other anatomic sites or primary (cutaneous follicle center lymphoma). --2003" [] xref: ICD10:C82 xref: NCIt:C7218 is_a: EFO:0004198 ! skin neoplasm [Term] id: EFO:1000212 name: Cutaneous Undifferentiated Pleomorphic Sarcoma def: "An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm." [NCIT:C5576] synonym: "cutaneous malignant fibrous histiocytoma" EXACT [NCIT:C5576] synonym: "cutaneous unclassified pleomorphic sarcoma" EXACT [NCIT:C5576] synonym: "cutaneous unclassified pleomorphic sarcoma (formerly cutaneous \"malignant fibrous histiocytoma\")" EXACT [NCIT:C5576] synonym: "cutaneous unclassified pleomorphic sarcoma (formerly cutaneous \"MFH\")" EXACT [NCIT:C5576] synonym: "cutaneous unclassified pleomorphic sarcoma (formerly cutaneous)" EXACT [NCIT:C5576] synonym: "cutaneous undifferentiated pleomorphic sarcoma" EXACT [NCIT:C5576] synonym: "cutaneous undifferentiated pleomorphic sarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "cutaneous undifferentiated pleomorphic sarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "malignant cutaneous fibrous histiocytoma" EXACT [NCIT:C5576] synonym: "malignant fibrous histiocytoma of skin" EXACT [NCIT:C5576] synonym: "malignant fibrous histiocytoma of the skin" EXACT [NCIT:C5576] synonym: "malignant skin fibrous histiocytoma" EXACT [NCIT:C5576] synonym: "undifferentiated pleomorphic sarcoma of zone of skin" EXACT [MONDO:design_pattern] synonym: "zone of skin undifferentiated pleomorphic sarcoma" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:1906 {source="MONDO:equivalentTo"} xref: EFO:1000212 {source="MONDO:equivalentTo"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MONDO:0002141 xref: NCIT:C5576 {source="DOID:1906", source="MONDO:equivalentTo"} xref: SCTID:404014008 {source="DOID:1906", source="MONDO:equivalentTo"} xref: UMLS:C1275254 {source="DOID:1906", source="MONDO:equivalentTo", source="NCIT:C5576"} is_a: EFO:1000531 {source="MONDO:Redundant", source="NCIT:C5576"} ! Skin Sarcoma is_a: EFO:1001972 {source="MONDO:Redundant", source="NCIT:C5576"} ! undifferentiated pleomorphic sarcoma property_value: exactMatch DOID:1906 property_value: exactMatch DOID:1906 property_value: exactMatch http://identifiers.org/snomedct/404014008 property_value: exactMatch http://identifiers.org/snomedct/404014008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275254 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275254 property_value: exactMatch NCIT:C5576 property_value: exactMatch NCIT:C5576 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:1000213 name: Cystic Nephroma def: "A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid." [] xref: NCIt:C7504 is_a: EFO:0003865 ! kidney neoplasm [Term] id: EFO:1000214 name: Dedifferentiated Solitary Fibrous Tumor def: "A solitary fibrous tumor characterized by the presence of areas of abrupt transition to high grade sarcoma." [NCIT:C79948] synonym: "dedifferentiated solitary fibrous tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "dedifferentiated solitary fibrous tumor" EXACT [] {comment="preferred label from MONDO"} xref: EFO:1000214 {source="MONDO:equivalentTo"} xref: MONDO:0006178 xref: NCIT:C79948 {source="MONDO:equivalentTo", source="EFO:1000214", source="MONDO:exact-label-match"} xref: NCIT:C79948 {source="MONDO:equivalentTo", source="EFO:1000214", source="exact-label-match"} xref: UMLS:C2699572 {source="NCIT:C79948", source="MONDO:equivalentTo"} is_a: MONDO:0016238 {source="MONDO:cjm", source="NCIT:C79948/inferred"} ! solitary fibrous tumor property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2699572 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2699572 property_value: exactMatch NCIT:C79948 property_value: exactMatch NCIT:C79948 [Term] id: EFO:1000215 name: Desmoplastic Ameloblastoma def: "An ameloblastoma with prominent desmoplastic stroma that causes compression of the neoplastic epithelial islands." [NCIT:C39758] synonym: "desmoplastic ameloblastoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "desmoplastic ameloblastoma" EXACT [NCIT:C39758] synonym: "desmoplastic ameloblastoma" EXACT [] {comment="preferred label from MONDO"} xref: EFO:1000215 {source="MONDO:equivalentTo"} xref: MONDO:0006179 xref: NCIT:C39758 {source="MONDO:equivalentTo", source="EFO:1000215"} xref: UMLS:C0457533 {source="MONDO:equivalentTo", source="NCIT:C39758"} is_a: MONDO:0017795 {source="NCIT:C39758"} ! ameloblastoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0457533 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0457533 property_value: exactMatch NCIT:C39758 property_value: exactMatch NCIT:C39758 [Term] id: EFO:1000216 name: Diffuse Melanocytosis def: "A diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. Cells may spread into the Virchow-Robin spaces without frank invasion of the brain. Diffuse melanocytosis carries a poor prognosis even in the absence of histologic malignancy. (WHO)" [] xref: NCIt:C6890 is_a: EFO:0003851 ! meningeal neoplasm [Term] id: EFO:1000217 name: Digestive System Adenoma def: "A sporadic or less frequently familial neoplasm, arising from the glandular epithelium of the stomach, small intestine, biliary tract, colon, and rectum. It is a polypoid or flat circumscribed lesion. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. The frequency of malignant transformation depends on the size of the lesion and the degree of dysplasia. Larger adenomas with severe dysplastic changes (sometimes called carcinoma in situ) carry a higher risk of progressing to invasive adenocarcinoma. Gastrointestinal adenomas may present as solitary or multifocal lesions. Familial adenomas tend to be multifocal and carry a higher risk of malignant transformation." [NCIT:C36207] synonym: "digestive system adenoma" EXACT [NCIT:C36207] synonym: "digestive system adenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "digestive system adenoma" EXACT [] {comment="preferred label from MONDO"} synonym: "digestive tract adenoma" EXACT [MONDO:patterns/location] synonym: "gastrointestinal adenoma" EXACT [MONDO:0002890, NCIT:C36207] synonym: "GI adenoma" EXACT [DOID:4147, NCIT:C36207] xref: DOID:4147 {source="MONDO:equivalentTo"} xref: EFO:1000217 {source="MONDO:equivalentTo"} xref: MONDO:0006180 xref: NCIT:C36207 {source="DOID:4147", source="MONDO:equivalentTo", source="EFO:1000217"} xref: UMLS:C0948101 {source="DOID:4147", source="MONDO:equivalentTo", source="NCIT:C36207"} is_a: EFO:0000232 {source="EFO:1000217", source="MONDO:Redundant", source="NCIT:C36207"} ! adenoma is_a: EFO:0000405 ! digestive system disease is_a: EFO:0008549 {source="EFO:1000217", source="MONDO:Redundant", source="NCIT:C36207"} ! digestive system neoplasm property_value: exactMatch DOID:4147 property_value: exactMatch DOID:4147 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0948101 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0948101 property_value: exactMatch NCIT:C36207 property_value: exactMatch NCIT:C36207 property_value: excluded_subClassOf MONDO:0002516 {source="DOID:4147"} property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/adenoma.yaml [Term] id: EFO:1000218 name: Digestive System Carcinoma def: "A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma." [NCIT:C96963] synonym: "carcinoma of digestive system" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of the gastrointestinal system" EXACT [NCIT:C96963] synonym: "digestive system carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "digestive system carcinoma" EXACT [NCIT:C96963] synonym: "digestive system carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "gastrointestinal carcinoma" EXACT [MONDO:ambiguous] synonym: "gastrointestinal carcinoma (disease)" EXACT [MONDO:0000537] synonym: "gastrointestinal system carcinoma" EXACT [NCIT:C96963] xref: DOID:0050922 {source="MONDO:equivalentTo"} xref: EFO:1000218 {source="MONDO:equivalentTo"} xref: HP:0002672 {source="MONDO:otherHierarchy"} xref: MONDO:0006181 xref: NCIT:C96963 {source="MONDO:equivalentTo", source="EFO:1000218", source="exact-label-match"} xref: NCIT:C96963 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000218"} xref: UMLS:C0151544 {source="MONDO:equivalentTo", source="NCIT:C96963"} is_a: EFO:0000313 {source="EFO:1000218", source="MONDO:Redundant", source="NCIT:C96963"} ! carcinoma is_a: MONDO:0002516 {source="DOID:0050922", source="MONDO:Redundant", source="NCIT:C96963"} ! digestive system cancer property_value: exactMatch DOID:0050922 property_value: exactMatch DOID:0050922 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151544 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151544 property_value: exactMatch NCIT:C96963 property_value: exactMatch NCIT:C96963 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:1000219 name: Digestive System Mixed Adenoneuroendocrine Carcinoma def: "A carcinoma that arises from the digestive system and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30% of either component should be present for the diagnosis to be made." [NCIT:C95406] synonym: "digestive system Mixed Adenoneuroendocrine cancer" EXACT [NCIT:C95406] synonym: "digestive system mixed adenoneuroendocrine carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "digestive system mixed adenoneuroendocrine carcinoma" EXACT [NCIT:C95406] synonym: "digestive system mixed adenoneuroendocrine carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "gastrointestinal MANEC" EXACT [NCIT:C95406] synonym: "gastrointestinal mixed Adenoneuroendocrine carcinoma" EXACT [NCIT:C95406] synonym: "MANEC" EXACT ABBREVIATION [NCIT:C95406] synonym: "mixed Adenoneuroendocrine carcinoma" EXACT [NCIT:C95406] xref: EFO:1000219 {source="MONDO:equivalentTo"} xref: ICDO:8244/3 {source="NCIT:C95406"} xref: MONDO:0006182 xref: NCIT:C95406 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000219"} xref: NCIT:C95406 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000219"} xref: UMLS:C2987129 {source="NCIT:C95406", source="MONDO:equivalentTo"} is_a: EFO:1000218 {source="NCIT:C95406"} ! Digestive System Carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2987129 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2987129 property_value: exactMatch NCIT:C95406 property_value: exactMatch NCIT:C95406 [Term] id: EFO:1000220 name: Disseminated Peritoneal Leiomyomatosis def: "A rare, benign process that affects the peritoneal cavity and is characterized by the formation of multiple small nodules that are composed of well differentiated smooth muscle. It usually affects adults in their late reproductive years. Most patients are asymptomatic. The tumor nodules may regress spontaneously." [NCIT:C3958] subset: ordo_disease {source="Orphanet:71274"} synonym: "diffuse peritoneal leiomyomatosis" EXACT [MONDO:0003613, NCIT:C3958, Orphanet:71274] synonym: "disseminated peritoneal leiomyomatosis" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "disseminated peritoneal leiomyomatosis" EXACT [NCIT:C3958] synonym: "disseminated peritoneal leiomyomatosis" EXACT [] {comment="preferred label from MONDO"} synonym: "DPL" EXACT ABBREVIATION [Orphanet:71274] synonym: "leiomyomatosis peritonealis disseminata" EXACT [NCIT:C3958] synonym: "leiomyomatosis peritonealis disseminate" EXACT [Orphanet:71274] synonym: "LPD" EXACT ABBREVIATION [Orphanet:71274] xref: DOID:5728 {source="MONDO:equivalentTo"} xref: EFO:1000220 {source="MONDO:equivalentTo"} xref: GARD:0012843 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10:D20.1 {source="Orphanet:71274", source="ORDO:71274/ntbt"} xref: MONDO:0006183 xref: NCIT:C3958 {source="EFO:1000220", source="MONDO:equivalentTo", source="DOID:5728"} xref: Orphanet:71274 {source="MONDO:equivalentTo"} xref: SCTID:62557001 {source="MONDO:equivalentTo", source="DOID:5728"} xref: UMLS:C0267785 {source="NCIT:C3958", source="MONDO:equivalentTo", source="DOID:5728"} is_a: MONDO:0000650 {source="NCIT:C3958"} ! peritoneal benign neoplasm is_a: MONDO:0003295 {source="DOID:5728", source="NCIT:C3958"} ! leiomyomatosis is_a: MONDO:0015682 {source="Orphanet:71274"} ! primary peritoneal tumor relationship: has_characteristic MONDO:0022202 ! disseminated property_value: closeMatch http://identifiers.org/snomedct/703634007 property_value: exactMatch DOID:5728 property_value: exactMatch DOID:5728 property_value: exactMatch http://identifiers.org/snomedct/62557001 property_value: exactMatch http://identifiers.org/snomedct/62557001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267785 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267785 property_value: exactMatch NCIT:C3958 property_value: exactMatch NCIT:C3958 property_value: exactMatch Orphanet:71274 [Term] id: EFO:1000221 name: Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ def: "The co-existence of ductal and lobular carcinoma in situ in the breast, without evidence of stromal invasion." [NCIT:C4195] synonym: "DCIS and LCIS of breast" EXACT [NCIT:C4195] synonym: "DCIS and LCIS of the breast" EXACT [NCIT:C4195] synonym: "ductal and lobular breast carcinoma in situ" EXACT [NCIT:C4195] synonym: "ductal and lobular carcinoma in situ of breast" EXACT [NCIT:C4195] synonym: "ductal and lobular carcinoma in situ of the breast" EXACT [NCIT:C4195] synonym: "ductal breast carcinoma in situ and lobular carcinoma in situ" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "ductal breast carcinoma in situ and lobular carcinoma in situ" EXACT [] {comment="preferred label from MONDO"} synonym: "ductal carcinoma in situ with lobular carcinoma in situ of breast" EXACT [NCIT:C4195] synonym: "ductal carcinoma in situ with lobular carcinoma in situ of the breast" EXACT [NCIT:C4195] synonym: "intraductal and lobular breast carcinoma in situ" EXACT [NCIT:C4195] synonym: "intraductal and lobular carcinoma in situ of breast" EXACT [NCIT:C4195] synonym: "intraductal and lobular carcinoma in situ of the breast" EXACT [NCIT:C4195] synonym: "intraductal carcinoma and lobular carcinoma in situ" EXACT [NCIT:C4195] synonym: "non-infiltrating ductal and non-infiltrating lobular breast carcinoma" EXACT [NCIT:C4195] synonym: "non-infiltrating ductal with non-infiltrating lobular carcinoma of breast" EXACT [NCIT:C4195] synonym: "non-infiltrating ductal with non-infiltrating lobular carcinoma of the breast" EXACT [NCIT:C4195] synonym: "non-invasive ductal and non-invasive lobular breast carcinoma" EXACT [NCIT:C4195] synonym: "non-invasive ductal and non-invasive lobular carcinoma" EXACT [NCIT:C4195] synonym: "non-invasive ductal breast carcinoma with non-invasive lobular breast carcinoma" EXACT [NCIT:C4195] synonym: "non-invasive ductal carcinoma with non-invasive lobular carcinoma of breast" EXACT [NCIT:C4195] synonym: "non-invasive ductal carcinoma with non-invasive lobular carcinoma of the breast" EXACT [NCIT:C4195] synonym: "non-invasive ductal with non-invasive lobular breast carcinoma" EXACT [NCIT:C4195] xref: EFO:1000221 {source="MONDO:equivalentTo"} xref: ICDO:8522/2 {source="NCIT:C4195"} xref: MONDO:0006184 xref: NCIT:C4195 {source="EFO:1000221", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C4195 {source="EFO:1000221", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C0334383 {source="NCIT:C4195", source="MONDO:equivalentTo"} is_a: MONDO:0004658 {source="NCIT:C4195"} ! breast carcinoma in situ property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334383 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334383 property_value: exactMatch NCIT:C4195 property_value: exactMatch NCIT:C4195 property_value: excluded_subClassOf MONDO:0005590 {source="EFO:1000221"} property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1000222 name: Ductal or Ductular Proliferation def: "A morphologic finding indicating the presence of typical or atypical proliferation of biliary epithelial cells in the portal tracts of the liver." [NCIT:P378] comment: Editor note: consider obsoleting synonym: "ductal or ductular proliferation" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:1000222 {source="MONDO:equivalentTo"} is_a: EFO:0000616 ! neoplasm is_a: EFO:0009534 ! biliary tract disease property_value: exactMatch NCIT:C111786 [Term] id: EFO:1000223 name: Duodenal Adenocarcinoma def: "A carcinoma that arises from glandular epithelial cells of the duodenum." [https://orcid.org/0000-0002-6601-2165] def: "A carcinoma that arises from glandular epithelial cells of the duodenum." [MONDO:DesignPattern] synonym: "adenocarcinoma of duodenum" EXACT [DOID:10816, NCIT:C7889] synonym: "adenocarcinoma of the duodenum" EXACT [NCIT:C7889] synonym: "duodenal adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "duodenal adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "duodenal adenocarcinoma" EXACT [DOID:10816, NCIT:C7889] synonym: "duodenum adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:10816 {source="MONDO:equivalentTo"} xref: EFO:1000223 {source="MONDO:equivalentTo"} xref: MONDO:0006186 xref: NCIT:C7889 {source="EFO:1000223", source="MONDO:equivalentTo", source="DOID:10816", source="MONDO:exact-label-match"} xref: NCIT:C7889 {source="EFO:1000223", source="MONDO:equivalentTo", source="DOID:10816", source="exact-label-match"} xref: ONCOTREE:DA {source="MONDO:equivalentTo"} xref: SCTID:408644002 {source="MONDO:equivalentTo", source="DOID:10816"} xref: UMLS:C0278804 {source="MONDO:equivalentTo", source="DOID:10816", source="NCIT:C7889"} is_a: EFO:1000532 {source="DOID:10816", source="EFO:1000223", source="MONDO:Redundant", source="NCIT:C7889"} ! small intestinal adenocarcinoma is_a: MONDO:0021335 {source="MONDO:Redundant", source="NCIT:C7889"} ! carcinoma of duodenum property_value: exactMatch DOID:10816 property_value: exactMatch DOID:10816 property_value: exactMatch http://identifiers.org/snomedct/408644002 property_value: exactMatch http://identifiers.org/snomedct/408644002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278804 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278804 property_value: exactMatch NCIT:C7889 property_value: exactMatch NCIT:C7889 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/adenocarcinoma.yaml [Term] id: EFO:1000224 name: Duodenal Gastrin-Producing Neuroendocrine Tumor def: "A gastrin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm." [] xref: NCIt:C5731 is_a: EFO:0003769 ! endocrine neoplasm is_a: EFO:0010282 ! gastrointestinal disease [Term] id: EFO:1000225 name: Duodenal Villous Adenoma def: "A neoplasm that arises from the glandular epithelium of the duodenum. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." [NCIT:C5338] synonym: "duodenal villous adenoma" EXACT [] {comment="preferred label from MONDO"} synonym: "duodenal villous adenoma" EXACT [NCIT:C5338] synonym: "duodenal villous adenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "duodenum adenoma" RELATED [DOID:0050927] synonym: "duodenum villous adenoma" EXACT [MONDO:patterns/location] synonym: "villous adenoma of duodenum" EXACT [NCIT:C5338] synonym: "villous adenoma of the duodenum" EXACT [NCIT:C5338] synonym: "villous adenoma, duodenum" EXACT [NCIT:C5338] xref: DOID:0050927 {source="MONDO:equivalentTo"} xref: EFO:1000225 {source="MONDO:equivalentTo"} xref: MONDO:0006187 xref: NCIT:C5338 {source="DesignPattern", source="MONDO:equivalentTo", source="EFO:1000225", source="exact-label-match"} xref: NCIT:C5338 {source="MONDO:equivalentTo", source="EFO:1000225", source="MONDO:exact-label-match"} xref: UMLS:C1333322 {source="MONDO:equivalentTo", source="NCIT:C5338"} is_a: MONDO:0000502 {source="MONDO:Redundant", source="NCIT:C5338/inferred"} ! villous adenoma is_a: MONDO:0021303 {source="MONDO:Redundant", source="NCIT:C5338/inferred"} ! adenoma of small intestine is_a: MONDO:0021375 {source="MONDO:Redundant", source="NCIT:C5338/inferred"} ! tumor of duodenum property_value: exactMatch DOID:0050927 property_value: exactMatch DOID:0050927 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333322 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333322 property_value: exactMatch NCIT:C5338 property_value: exactMatch NCIT:C5338 [Term] id: EFO:1000226 name: Dysplasia in Ulcerative Colitis def: "A morphologic finding indicating the presence of dysplastic epithelial changes in a large intestinal tissue sample that is affected by ulcerative colitis." [] xref: NCIt:C45433 is_a: EFO:0003897 ! stomach neoplasm [Term] id: EFO:1000227 name: Dysplasia of Larynx def: "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4838&ns=NCI_Thesaurus" [] xref: NCIt:C4838 is_a: EFO:0003817 ! laryngeal neoplasm [Term] id: EFO:1000228 name: EBV-Positive T-Cell Lymphoproliferative Disorder of Childhood def: "An Epstein-Barr virus-associated mature T-cell lymphoproliferative group of disorders affecting children. It occurs with increased frequency in Asians and Native Americans. It includes the systemic EBV-positive T-cell lymphoma of childhood and the hydroa vacciniforme-like lymphoma." [NCIT:C80373] synonym: "EBV-positive T-cell lymphoproliferative disease of childhood" EXACT [NCIT:C80373] synonym: "EBV-positive T-cell lymphoproliferative disorder of childhood" EXACT [NCIT:C80373] synonym: "EBV-positive T-cell lymphoproliferative disorder of childhood" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "EBV-positive T-cell lymphoproliferative disorder of childhood" EXACT [] {comment="preferred label from MONDO"} xref: EFO:1000228 {source="MONDO:equivalentTo"} xref: MONDO:0006188 xref: NCIT:C80373 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000228"} xref: NCIT:C80373 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000228"} xref: UMLS:C2699838 {source="MONDO:equivalentTo", source="NCIT:C80373"} is_a: EFO:0002426 {source="NCIT:C80373"} ! neoplasm of mature T-cells or NK-cells is_a: MONDO:0004805 ! leukocyte disorder relationship: EFO:0000784 CL:0000084 ! has_disease_location T cell property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2699838 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2699838 property_value: exactMatch NCIT:C80373 property_value: exactMatch NCIT:C80373 property_value: excluded_subClassOf MONDO:0005062 {source="EFO:1000228"} [Term] id: EFO:1000229 name: Eccrine Porocarcinoma def: "A carcinoma with eccrine differentiation arising from the sweat glands. It may arise de novo or as a malignant transformation of a pre-existing poroma. It usually grows in the legs, buttocks, feet, and trunk and usually presents as an ulcerative plaque. It is characterized by the presence of intraepidermal and dermal nests of malignant epithelial cells. It may recur after excision and metastasize to the lymph nodes and less frequently to distal anatomic sites." [NCIT:C5560] subset: gard_rare {source="GARD:0007431"} synonym: "eccrine porocarcinoma" EXACT [NCIT:C5560] synonym: "eccrine porocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "eccrine porocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "eccrine porocarcinoma of skin" RELATED [GARD:0007431] synonym: "epidermotropic eccrine carcinoma" EXACT [NCIT:C5560] synonym: "malignant eccrine poroma" EXACT [DOID:7566, NCIT:C5560] synonym: "porocarcinoma" EXACT [DOID:7566] synonym: "porocarcinoma/spiroadenocarcinoma" RELATED [ONCOTREE:POCA] xref: DOID:7566 {source="MONDO:equivalentTo"} xref: EFO:1000229 {source="MONDO:equivalentTo"} xref: GARD:0007431 {source="MONDO:equivalentTo"} xref: ICDO:8409/3 {source="NCIT:C5560"} xref: MESH:D057090 {source="DOID:7566", source="MONDO:equivalentTo"} xref: MONDO:0006189 xref: NCIT:C5560 {source="DOID:7566", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000229"} xref: NCIT:C5560 {source="DOID:7566", source="MONDO:equivalentTo", source="EFO:1000229", source="exact-label-match"} xref: ONCOTREE:POCA {source="MONDO:equivalentTo"} xref: SCTID:254708001 {source="DOID:7566", source="MONDO:equivalentTo"} xref: UMLS:C1266065 {source="DOID:7566", source="NCIT:C5560", source="MONDO:equivalentTo"} is_a: MONDO:0024240 {source="MONDO:Redundant", source="NCIT:C5560"} ! eccrine carcinoma property_value: closeMatch http://identifiers.org/snomedct/128685001 property_value: exactMatch DOID:7566 property_value: exactMatch DOID:7566 property_value: exactMatch http://identifiers.org/mesh/D057090 property_value: exactMatch http://identifiers.org/mesh/D057090 property_value: exactMatch http://identifiers.org/snomedct/254708001 property_value: exactMatch http://identifiers.org/snomedct/254708001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266065 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266065 property_value: exactMatch NCIT:C5560 property_value: exactMatch NCIT:C5560 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7431/eccrine-porocarcinoma xsd:anyURI {source="GARD:0007431"} [Term] id: EFO:1000230 name: Endolymphatic Sac Tumor def: "An aggressive epithelial neoplasm arising from the temporal bone. It is characterized by the presence of a papillary pattern, and has been described as an adenoma or carcinoma in the literature. There is disagreement regarding its relationship to endolymphatic sac tumor." [NCIT:P378] synonym: "aggressive papillary tumor of the temporal bone" EXACT [NCIT:C67560] synonym: "aggressive papillary tumour of the temporal bone" EXACT OMO:0003005 [] synonym: "ELST" EXACT ABBREVIATION [NCIT:C67560] synonym: "endolymphatic sac neoplasm" EXACT [] synonym: "endolymphatic sac neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "endolymphatic sac tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "endolymphatic sac tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "endolymphatic sac tumor" EXACT [MONDO:ambiguous, MONDO:patterns/neoplasm, NCIT:C67560] synonym: "endolymphatic sac tumor (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "endolymphatic sac tumour (disease)" EXACT OMO:0003005 [] synonym: "neoplasm of endolymphatic sac" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of endolymphatic sac" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of endolymphatic sac" EXACT OMO:0003005 [] xref: EFO:1000230 {source="MONDO:equivalentTo"} xref: GARD:0009270 {source="MONDO:equivalentTo"} xref: HP:0030393 {source="MONDO:otherHierarchy"} xref: ICD9:212.0 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:212.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8260/1 {source="NCIT:C67560"} xref: MONDO:0006190 xref: NCIT:C67560 {source="EFO:1000230", source="MONDO:equivalentTo"} xref: SCTID:699817008 {source="MONDO:equivalentTo"} xref: UMLS:C2348239 {source="NCIT:C67560", source="MONDO:equivalentTo"} is_a: MONDO:0021096 {source="NCIT:C67560"} ! papillary epithelial neoplasm is_a: MONDO:0024320 ! inner ear neoplasm property_value: exactMatch http://identifiers.org/snomedct/699817008 property_value: exactMatch http://identifiers.org/snomedct/699817008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2348239 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2348239 property_value: exactMatch NCIT:C67560 property_value: exactMatch NCIT:C67560 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/neoplasm.yaml property_value: IAO:0000589 "endolymphatic sac tumor (disease)" xsd:string [Term] id: EFO:1000231 name: Endometrial Clear Cell Adenocarcinoma def: "A clear cell adenocarcinoma that involves the endometrium." [MONDO:patterns/location] synonym: "clear cell carcinoma of endometrium" EXACT [DOID:5299, NCIT:C8028] synonym: "clear cell carcinoma of the endometrium" EXACT [NCIT:C8028] synonym: "endometrial clear cell adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "endometrial clear cell adenocarcinoma" EXACT [MONDO:0003380, NCIT:C8028] synonym: "endometrial clear cell adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "endometrium clear cell adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:5299 {source="MONDO:equivalentTo"} xref: EFO:1000231 {source="MONDO:equivalentTo"} xref: MONDO:0006191 xref: NCIT:C8028 {source="DOID:5299", source="EFO:1000231", source="MONDO:equivalentTo"} xref: UMLS:C0279765 {source="DOID:5299", source="MONDO:equivalentTo", source="NCIT:C8028"} is_a: EFO:0000348 {source="EFO:1000231", source="MONDO:Redundant", source="NCIT:C8028"} ! clear cell adenocarcinoma is_a: EFO:0005232 {source="DOID:5299", source="EFO:1000231", source="MONDO:Redundant", source="NCIT:C8028/inferred"} ! endometrium adenocarcinoma property_value: exactMatch DOID:5299 property_value: exactMatch DOID:5299 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279765 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279765 property_value: exactMatch NCIT:C8028 property_value: exactMatch NCIT:C8028 [Term] id: EFO:1000232 name: Endometrial Cyst def: "It is caused by endometriosis, and formed when a tiny patch of endometrial tissue (the mucous membrane that makes up the inner layer of the uterine wall) bleeds, sloughs off, becomes transplanted, and grows and enlarges inside the ovaries. As the blood builds up over months and years, it turns brown. When it ruptures, the material spills over into the pelvis and onto the surface of the uterus, bladder, bowel, and the corresponding spaces between." [] xref: NCIt:C40158 xref: Wikipedia:Endometriosis_of_ovary is_a: EFO:0004230 ! endometrial neoplasm [Term] id: EFO:1000233 name: Endometrial Endometrioid Adenocarcinoma def: "A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma." [NCIT:C6287] synonym: "endometrial endometrioid adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "endometrial endometrioid adenocarcinoma" EXACT [NCIT:C6287] synonym: "endometrial endometrioid adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "endometrioid adenocarcinoma of endometrium" EXACT [NCIT:C6287] synonym: "endometrioid adenocarcinoma of the endometrium" EXACT [NCIT:C6287] synonym: "endometrioid carcinoma of endometrium" EXACT [NCIT:C6287] synonym: "endometrioid carcinoma of the endometrium" EXACT [NCIT:C6287] synonym: "endometrioid endomet. adenocar." EXACT [NCIT:C6287] synonym: "endometrioid endometrial adenocarcinoma" EXACT [NCIT:C6287] synonym: "uterine corpus endometrioid adenocarcinoma" EXACT [NCIT:C6287] synonym: "uterine corpus endometrioid carcinoma" EXACT [NCIT:C6287] synonym: "uterine endometrioid carcinoma" RELATED [ONCOTREE:UEC] xref: EFO:1000233 {source="MONDO:equivalentTo"} xref: MONDO:0006192 xref: NCIT:C6287 {source="MONDO:equivalentTo", source="EFO:1000233"} xref: ONCOTREE:UEC {source="MONDO:equivalentTo"} xref: UMLS:C1336905 {source="NCIT:C6287", source="MONDO:equivalentTo"} is_a: EFO:0000466 {source="NCIT:C6287"} ! endometrioid carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336905 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336905 property_value: exactMatch NCIT:C6287 property_value: exactMatch NCIT:C6287 [Term] id: EFO:1000234 name: Endometrial Hyperplasia without Atypia def: "Simple or complex endometrial hyperplasia characterized by the absence of epithelial atypia." [NCIT:P378] synonym: "endometrial hyperplasia without atypia" EXACT [] {comment="preferred label from MONDO"} synonym: "typical endometrial hyperplasia" EXACT [NCIT:C40157] xref: ICD9:621.34 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MONDO:0006193 xref: NCIT:C40157 {source="EFO:1000234", source="MONDO:equivalentTo"} xref: NCIt:C40157 xref: SCTID:134031000119108 {source="MONDO:equivalentTo"} is_a: EFO:0000536 {source="EFO:1000234", source="NCIT:C40157/inferred"} ! hyperplasia is_a: EFO:0009549 ! female reproductive system disease property_value: exactMatch http://identifiers.org/snomedct/134031000119108 property_value: exactMatch NCIT:C40157 [Term] id: EFO:1000235 name: Endometrial Intraepithelial Neoplasia def: "A premalignant neoplastic process that affects the endometrial epithelium and glands. It is characterized by architectural glandular alterations and cytological abnormalities in the epithelial cells. The lesion exceeds 1 mm in maximum linear dimension." [] xref: NCIt:C27789 is_a: EFO:0004230 ! endometrial neoplasm [Term] id: EFO:1000236 name: Endometrial Mucinous Adenocarcinoma def: "A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin." [NCIT:C40144] synonym: "endometrial mucinous adenocarcinoma" EXACT [MONDO:0006194, NCIT:C40144] synonym: "endometrial mucinous adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "endometrial mucinous adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "endometrium mucinous adenocarcinoma" EXACT [MONDO:patterns/location] synonym: "uterine corpus mucinous adenocarcinoma" RELATED [DOID:3707, NCIT:C40144] synonym: "uterine mucinous carcinoma" RELATED [ONCOTREE:UMC] xref: DOID:3707 {source="MONDO:equivalentTo"} xref: EFO:1000236 {source="MONDO:equivalentTo"} xref: MONDO:0002747 xref: NCIT:C40144 {source="MONDO:equivalentTo", source="EFO:1000236", source="DOID:3707"} xref: ONCOTREE:UMC {source="MONDO:equivalentTo"} xref: UMLS:C1519859 {source="MONDO:equivalentTo", source="DOID:3707"} is_a: EFO:0000197 {source="DOID:3707", source="MONDO:Redundant", source="NCIT:C40144"} ! mucinous carcinoma is_a: EFO:0005232 {source="DOID:3707", source="EFO:1000236", source="MONDO:Redundant", source="NCIT:C40144/inferred"} ! endometrium adenocarcinoma property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0854923 property_value: exactMatch DOID:3707 property_value: exactMatch DOID:3707 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519859 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519859 property_value: exactMatch NCIT:C40144 property_value: exactMatch NCIT:C40144 [Term] id: EFO:1000237 name: Endometrial Polyp def: "A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported." [NCIT:C6433] synonym: "endometrial polyp" EXACT [NCIT:C6433] synonym: "endometrial polyp" EXACT [] {comment="preferred label from MONDO"} synonym: "endometrial stromal polyp" EXACT [NCIT:C6433] synonym: "endometrium polyp" EXACT [MONDO:patterns/location] synonym: "polyp of endometrium" EXACT [NCIT:C6433] synonym: "polyp of the endometrium" EXACT [NCIT:C6433] synonym: "polyp, endometrial stromal, benign" EXACT [NCIT:C6433] xref: MedDRA:10014769 xref: MONDO:0006195 xref: NCIT:C6433 {source="MONDO:equivalentTo", source="EFO:1000237"} xref: NCIt:C6433 is_a: EFO:0004230 ! endometrial neoplasm is_a: EFO:0009484 {source="MONDO:Redundant", source="NCIT:C6433"} ! uterine polyp is_a: MONDO:0000931 ! endometrial disorder property_value: exactMatch NCIT:C6433 [Term] id: EFO:1000238 name: Endometrial Serous Adenocarcinoma def: "A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor." [NCIT:C27838] synonym: "endometrial serous adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "endometrial serous adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "endometrial serous adenocarcinoma" EXACT [NCIT:C27838] synonym: "serous endometrial adenocarcinoma" EXACT [NCIT:C27838] synonym: "uterine corpus serous adenocarcinoma" EXACT [NCIT:C27838] synonym: "uterine corpus serous adenocarcinoma" RELATED [NCIT:C27838] synonym: "uterine papillary serous carcinoma" EXACT [NCIT:C27838] synonym: "uterine serous adenocarcinoma" BROAD [NCIT:C27838] synonym: "uterine serous adenocarcinoma" EXACT [NCIT:C27838] synonym: "uterine serous carcinoma" BROAD [NCIT:C27838] synonym: "uterine serous carcinoma" EXACT [NCIT:C27838] synonym: "uterine serous papillary adenocarcinoma" EXACT [NCIT:C27838] xref: EFO:1000238 {source="MONDO:equivalentTo"} xref: MONDO:0006196 xref: NCIT:C27838 {source="MONDO:equivalentTo", source="EFO:1000238"} is_a: EFO:0003825 {source="EFO:1000238", source="MONDO:Redundant", source="NCIT:C27838"} ! serous adenocarcinoma is_a: EFO:0009549 ! female reproductive system disease property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0854924 property_value: exactMatch NCIT:C27838 property_value: exactMatch NCIT:C27838 [Term] id: EFO:1000239 name: Endometrial Small Cell Carcinoma def: "A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically." [NCIT:C40155] synonym: "endometrial small cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "endometrial small cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "endometrial small cell carcinoma" EXACT [NCIT:C40155] synonym: "endometrium small cell carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "small cell carcinoma of endometrium" EXACT [MONDO:design_pattern] xref: DOID:7139 {source="MONDO:equivalentTo"} xref: EFO:1000239 {source="MONDO:equivalentTo"} xref: MONDO:0006197 xref: NCIT:C40155 {source="DOID:7139", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000239"} xref: NCIT:C40155 {source="DOID:7139", source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000239"} xref: UMLS:C1516858 {source="DOID:7139", source="MONDO:equivalentTo", source="NCIT:C40155"} is_a: EFO:0008524 {source="MONDO:Redundant", source="NCIT:C40155"} ! small cell carcinoma is_a: EFO:1001512 {source="DOID:7139", source="MONDO:Redundant", source="NCIT:C40155"} ! endometrial carcinoma property_value: exactMatch DOID:7139 property_value: exactMatch DOID:7139 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516858 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516858 property_value: exactMatch NCIT:C40155 property_value: exactMatch NCIT:C40155 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/small_cell_carcinoma.yaml [Term] id: EFO:1000240 name: Endometrial Squamous Cell Carcinoma def: "A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells." [NCIT:C8719] synonym: "endometrial squamous cell carcinoma" EXACT [NCIT:C8719] synonym: "endometrial squamous cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "endometrial squamous cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "endometrium squamous cell carcinoma" EXACT [MONDO:patterns/location] synonym: "squamous cell carcinoma of endometrium" EXACT [DOID:5533, NCIT:C8719] synonym: "squamous cell carcinoma of the endometrium" EXACT [NCIT:C8719] xref: DOID:5533 {source="MONDO:equivalentTo"} xref: EFO:1000240 {source="MONDO:equivalentTo"} xref: MONDO:0006198 xref: NCIT:C8719 {source="DOID:5533", source="EFO:1000240", source="MONDO:equivalentTo"} xref: UMLS:C1333396 {source="DOID:5533", source="MONDO:equivalentTo"} is_a: EFO:0000707 {source="DOID:5533", source="EFO:1000240", source="MONDO:Redundant", source="NCIT:C8719"} ! squamous cell carcinoma is_a: EFO:1001512 {source="DOID:5533", source="MONDO:Redundant", source="NCIT:C8719"} ! endometrial carcinoma property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0854925 property_value: exactMatch DOID:5533 property_value: exactMatch DOID:5533 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333396 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333396 property_value: exactMatch NCIT:C8719 property_value: exactMatch NCIT:C8719 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/squamous_cell_carcinoma.yaml [Term] id: EFO:1000241 name: Endometrial Stromal Nodule def: "A non-infiltrating, benign mesenchymal neoplasm arising from the uterine corpus. It is characterized by the presence of neoplastic cells that resemble the cells of the proliferative phase of endometrial stroma and numerous thin-walled small vessels. It usually presents with abnormal uterine bleeding and menorrhagia." [] xref: NCIt:C4262 is_a: EFO:0004230 ! endometrial neoplasm [Term] id: EFO:1000242 name: Endometrial Undifferentiated Carcinoma def: "A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation." [NCIT:C40156] synonym: "endometrial undifferentiated carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "endometrial undifferentiated carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "endometrial undifferentiated carcinoma" EXACT [NCIT:C40156] synonym: "undifferentiated endometrial carcinoma" EXACT [NCIT:C40156] xref: EFO:1000242 {source="MONDO:equivalentTo"} xref: MONDO:0006199 xref: NCIT:C40156 {source="EFO:1000242", source="MONDO:equivalentTo"} xref: UMLS:CN201056 {source="MONDO:equivalentTo"} is_a: EFO:0006772 {source="MONDO:Redundant", source="NCIT:C40156"} ! undifferentiated carcinoma is_a: EFO:1001512 {source="MONDO:Redundant", source="NCIT:C40156"} ! endometrial carcinoma property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1516865 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201056 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201056 property_value: exactMatch NCIT:C40156 property_value: exactMatch NCIT:C40156 [Term] id: EFO:1000243 name: Epidermal Inclusion Cyst def: "Epidermal inclusion cyst (EIC), also known as sebaceous cyst and epidermoid cyst, is the most common cyst of the skin. It ranges in size from a few millimeters to a few centimeters and originates from the follicular infundibulum. Its contents are a cheesy, malodorous mixture of degraded lipid and keratin. It often ruptures, with associated pain and inflammation. (http://www.medicinenet.com/image-collection/epidermal_inclusion_cyst_eic_picture/picture.htm)" [] synonym: "EIC" EXACT [] synonym: "epidermoid cyst" EXACT [] synonym: "sebaceous cyst" EXACT [] xref: MedDRA:10014984 xref: NCIt:C3134 is_a: EFO:0004198 ! skin neoplasm property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1000244 name: Epithelioid Cell Uveal Melanoma def: "A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes." [NCIT:C35780] synonym: "epithelioid cell melanoma of uvea" EXACT [MONDO:design_pattern] synonym: "epithelioid cell uveal melanoma" EXACT [NCIT:C35780] synonym: "epithelioid cell uveal melanoma" EXACT [] {comment="preferred label from MONDO"} synonym: "epithelioid cell uveal melanoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "uvea epithelioid cell melanoma" EXACT [MONDO:patterns/location] synonym: "uveal epithelioid cell melanoma" EXACT [MONDO:0004084, NCIT:C35780] xref: DOID:7040 {source="MONDO:equivalentTo"} xref: EFO:1000244 {source="MONDO:equivalentTo"} xref: MONDO:0006200 xref: NCIT:C35780 {source="MONDO:equivalentTo", source="EFO:1000244", source="DOID:7040"} xref: UMLS:C1333422 {source="MONDO:equivalentTo", source="DOID:7040"} is_a: EFO:1000616 {source="DOID:7040", source="MONDO:Redundant", source="NCIT:C35780"} ! Uveal Melanoma is_a: MONDO:0002973 {source="MONDO:Redundant", source="NCIT:C35780"} ! epithelioid cell melanoma property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0279692 property_value: exactMatch DOID:7040 property_value: exactMatch DOID:7040 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333422 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333422 property_value: exactMatch NCIT:C35780 property_value: exactMatch NCIT:C35780 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:1000245 name: Epithelioid Malignant Peripheral Nerve Sheath Tumor def: "A rare variant of malignant peripheral nerve sheath tumor composed predominantly or exclusively of epithelioid cells." [] xref: NCIt:C6561 is_a: EFO:0000760 ! malignant peripheral nerve sheath tumor [Term] id: EFO:1000246 name: Ethmoid Sinus Adenoid Cystic Carcinoma def: "An adenoid cystic carcinoma that affects the ethmoid sinus." [NCIT:P378] synonym: "adenoid cystic carcinoma of ethmoid sinus" RELATED [DOID:2764] synonym: "adenoid cystic carcinoma of the ethmoid sinus" EXACT [DOID:2764, NCIT:C6238] synonym: "ethmoid sinus adenoid cystic carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "ethmoid sinus adenoid cystic carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: DOID:2764 {source="MONDO:equivalentTo"} xref: EFO:1000246 {source="MONDO:equivalentTo"} xref: MONDO:0006201 xref: NCIT:C6238 {source="MONDO:equivalentTo", source="DOID:2764", source="EFO:1000246"} xref: UMLS:C1333473 {source="MONDO:equivalentTo", source="DOID:2764", source="NCIT:C6238"} is_a: EFO:1000454 ! Paranasal Sinus Adenoid Cystic Carcinoma is_a: MONDO:0001763 {source="DOID:2764", source="MONDO:Redundant", source="NCIT:C6238"} ! ethmoid sinus cancer property_value: exactMatch DOID:2764 property_value: exactMatch DOID:2764 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333473 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333473 property_value: exactMatch NCIT:C6238 property_value: exactMatch NCIT:C6238 [Term] id: EFO:1000247 name: Extrahepatic Bile Duct Adenosquamous Carcinoma def: "A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components." [NCIT:C5778] synonym: "adenosquamous bile duct carcinoma" NARROW [NCIT:C5778] synonym: "adenosquamous carcinoma of bile duct" NARROW [NCIT:C5778] synonym: "adenosquamous carcinoma of the bile duct" NARROW [NCIT:C5778] synonym: "bile duct adenosquamous carcinoma" NARROW [NCIT:C5778] synonym: "extrahepatic bile duct adenosquamous carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "extrahepatic bile duct adenosquamous carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "extrahepatic bile duct adenosquamous carcinoma" EXACT [MONDO:patterns/location, NCIT:C5778] xref: EFO:1000247 {source="MONDO:equivalentTo"} xref: MONDO:0006202 xref: NCIT:C5778 {source="DesignPattern", source="MONDO:equivalentTo", source="EFO:1000247"} xref: NCIT:C5778 {source="MONDO:equivalentTo", source="EFO:1000247"} is_a: EFO:1000248 ! Extrahepatic Bile Duct Squamous Cell Carcinoma is_a: MONDO:0003549 ! adenosquamous bile duct carcinoma property_value: exactMatch NCIT:C5778 property_value: exactMatch NCIT:C5778 property_value: http://purl.org/dc/terms/conformsTo adenosquamous:carcinoma.yaml [Term] id: EFO:1000248 name: Extrahepatic Bile Duct Squamous Cell Carcinoma def: "A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells." [NCIT:C5777] synonym: "bile duct squamous cell carcinoma" BROAD [NCIT:C5777] synonym: "bile duct squamous cell carcinoma" EXACT [NCIT:C5777] synonym: "extrahepatic bile duct squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C5777] synonym: "extrahepatic bile duct squamous cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "extrahepatic bile duct squamous cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "squamous cell bile duct carcinoma" BROAD [NCIT:C5777] synonym: "squamous cell bile duct carcinoma" EXACT [NCIT:C5777] synonym: "squamous cell carcinoma of bile duct" BROAD [NCIT:C5777] synonym: "squamous cell carcinoma of bile duct" EXACT [NCIT:C5777] synonym: "squamous cell carcinoma of the bile duct" BROAD [NCIT:C5777] synonym: "squamous cell carcinoma of the bile duct" EXACT [NCIT:C5777] xref: EFO:1000248 {source="MONDO:equivalentTo"} xref: MONDO:0006203 xref: NCIT:C5777 {source="MONDO:equivalentTo", source="EFO:1000248"} xref: UMLS:C0861861 {source="NCIT:C5777", source="MONDO:directSiblingOf"} is_a: MONDO:0003090 {source="MONDO:Redundant", source="NCIT:C5777"} ! extrahepatic bile duct carcinoma is_a: MONDO:0003500 ! squamous cell bile duct carcinoma property_value: exactMatch NCIT:C5777 property_value: exactMatch NCIT:C5777 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/squamous_cell_carcinoma.yaml [Term] id: EFO:1000249 name: Extramammary Paget Disease def: "A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva." [NCIT:C3302] subset: ordo_disease {source="Orphanet:2800"} synonym: "cutaneous Paget's disease" EXACT [NCIT:C3302] synonym: "cutaneous Paget's disease" RELATED [NCIT:C3302] synonym: "EMPD" RELATED ABBREVIATION [GARD:0004192] synonym: "extramammary Paget disease" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "extramammary Paget disease" EXACT [MONDO:0006204, NCIT:C3302] synonym: "extramammary Paget disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Extramammary Paget's disease" EXACT [NCIT:C3302] synonym: "Paget disease Extramammary" EXACT [NCIT:C3302] synonym: "Paget disease, EXTRAMAMMARY" RELATED [OMIM:167300] synonym: "Paget's disease of skin" EXACT [NCIT:C3302] synonym: "Paget's disease of the skin" EXACT [NCIT:C3302] synonym: "Paget's skin disease" EXACT [NCIT:C3302] xref: EFO:1000249 {source="MONDO:equivalentTo"} xref: GARD:0004192 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: ICD10:C44.5 {source="ORDO:2800/ntbt", source="Orphanet:2800"} xref: ICDO:8542/3 {source="NCIT:C3302"} xref: MedDRA:10033366 {source="ORDO:2800/e", source="Orphanet:2800"} xref: MedDRA:10033366 {source="Orphanet:2800", source="Orphanet:2800/e"} xref: MedDRA:10068223 {source="ORDO:2800/e", source="Orphanet:2800"} xref: MedDRA:10068223 {source="Orphanet:2800", source="Orphanet:2800/e"} xref: MESH:D010145 {source="MONDO:equivalentTo", source="ORDO:2800/e", source="Orphanet:2800"} xref: MESH:D010145 {source="MONDO:equivalentTo", source="Orphanet:2800", source="Orphanet:2800/e"} xref: MONDO:0008177 xref: NCIT:C3302 {source="MONDO:equivalentTo", source="EFO:1000249"} xref: OMIM:167300 {source="MONDO:equivalentTo", source="Orphanet:2800", source="Orphanet:2800/e"} xref: OMIM:167300 {source="MONDO:equivalentTo", source="ORDO:2800/e", source="Orphanet:2800"} xref: ONCOTREE:EMPD {source="MONDO:equivalentTo"} xref: Orphanet:2800 {source="MONDO:equivalentTo", source="OMIM:167300"} xref: UMLS:C0030186 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2800/e", source="OMIM:167300", source="Orphanet:2800", source="NCIT:C3302"} xref: UMLS:C0030186 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:167300", source="Orphanet:2800", source="NCIT:C3302", source="Orphanet:2800/e"} is_a: MONDO:0021165 {source="MONDO:Redundant", source="NCIT:C3302"} ! Paget disease property_value: closeMatch http://identifiers.org/meddra/10033366 property_value: closeMatch http://identifiers.org/meddra/10068223 property_value: exactMatch http://identifiers.org/meddra/10033366 property_value: exactMatch http://identifiers.org/meddra/10068223 property_value: exactMatch http://identifiers.org/mesh/D010145 property_value: exactMatch http://identifiers.org/mesh/D010145 property_value: exactMatch http://identifiers.org/omim/167300 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030186 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030186 property_value: exactMatch https://omim.org/entry/167300 property_value: exactMatch NCIT:C3302 property_value: exactMatch NCIT:C3302 property_value: exactMatch Orphanet:2800 property_value: excluded_subClassOf MONDO:0019300 {source="Orphanet:2800"} [Term] id: EFO:1000250 name: Extraskeletal Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor def: "A spectrum of malignant tumors arising from the soft tissues, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms." [NCIT:C27293] synonym: "extraosseous Ewing sarcoma/peripheral primitive neuroectodermal tumor" EXACT [NCIT:C27293] synonym: "extraosseous Ewing sarcoma/peripheral primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor" EXACT [NCIT:C27293] synonym: "extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "extraosseous Ewing's tumor" EXACT [DOID:4985, NCIT:C7135] synonym: "extraosseous Ewing's tumor" RELATED [DOID:4985, NCIT:C7135] synonym: "extraosseous Ewing's tumour" RELATED OMO:0003005 [] synonym: "extraosseous Ewings sarcoma-primitive neuroepithelial tumor" EXACT [MONDO:0003230] synonym: "extraosseous Ewings sarcoma-primitive neuroepithelial tumour" EXACT OMO:0003005 [] synonym: "extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor" EXACT [NCIT:C27293] synonym: "extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: DOID:4985 {source="MONDO:equivalentTo"} xref: EFO:1000250 {source="MONDO:equivalentTo"} xref: MONDO:0021039 xref: NCIT:C27293 {source="EFO:1000250", source="MONDO:equivalentTo"} xref: UMLS:C1333514 {source="MONDO:equivalentTo", source="NCIT:C27293"} is_a: MONDO:0021038 {source="NCIT:C27293"} ! Ewing sarcoma/peripheral primitive neuroectodermal tumor property_value: exactMatch DOID:4985 property_value: exactMatch DOID:4985 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333514 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333514 property_value: exactMatch NCIT:C27293 property_value: exactMatch NCIT:C27293 [Term] id: EFO:1000251 name: Fallopian Tube Carcinoma def: "A carcinoma that arises from epithelial cells of the fallopian tube." [MONDO:DesignPattern] def: "A carcinoma that arises from epithelial cells of the fallopian tube." [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of fallopian tube" BROAD [NCIT:C3867] synonym: "cancer of fallopian tube" EXACT [NCIT:C3867] synonym: "cancer of the fallopian tube" BROAD [DOID:1963, NCIT:C3867] synonym: "cancer of the fallopian tube" EXACT [DOID:1963, NCIT:C3867] synonym: "carcinoma of fallopian tube" EXACT [MONDO:patterns/carcinoma, NCIT:C3867] synonym: "carcinoma of the fallopian tube" EXACT [NCIT:C3867] synonym: "fallopian tube Ca" EXACT [DOID:1963] synonym: "fallopian tube cancer" BROAD [NCIT:C3867] synonym: "fallopian tube cancer" EXACT [NCIT:C3867] synonym: "fallopian tube carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "fallopian tube carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "fallopian tube carcinoma" EXACT [MONDO:patterns/location, NCIT:C3867] xref: DOID:1963 {source="MONDO:equivalentTo"} xref: EFO:1000251 {source="MONDO:equivalentTo"} xref: MONDO:0006206 xref: NCIT:C3867 {source="EFO:1000251", source="MONDO:equivalentTo", source="DOID:1963"} xref: SCTID:276870001 {source="MONDO:equivalentTo", source="DOID:1963"} xref: UMLS:C0238122 {source="MONDO:equivalentTo", source="DOID:1963", source="NCIT:C3867"} is_a: EFO:0000313 {source="DOID:1963", source="EFO:1000251", source="MONDO:Redundant", source="NCIT:C3867"} ! carcinoma is_a: MONDO:0002158 {source="DOID:1963", source="MONDO:Redundant", source="NCIT:C3867"} ! fallopian tube cancer property_value: closeMatch http://identifiers.org/mesh/D005185 property_value: closeMatch http://identifiers.org/snomedct/154529008 property_value: closeMatch http://identifiers.org/snomedct/269602009 property_value: closeMatch http://identifiers.org/snomedct/93794008 property_value: exactMatch DOID:1963 property_value: exactMatch DOID:1963 property_value: exactMatch http://identifiers.org/snomedct/276870001 property_value: exactMatch http://identifiers.org/snomedct/276870001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238122 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238122 property_value: exactMatch NCIT:C3867 property_value: exactMatch NCIT:C3867 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:1000252 name: Fallopian Tube Carcinosarcoma def: "A carcinosarcoma that arises from the fallopian tube. It usually affects postmenopausal women and presents with abdominal pain, abdominal distension or genital bleeding. The prognosis is usually poor." [NCIT:C40124] synonym: "fallopian tube carcinosarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "fallopian tube carcinosarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "fallopian tube carcinosarcoma" EXACT [MONDO:patterns/location] synonym: "fallopian tube malignant mixed mesodermal (mullerian) tumor" EXACT [DOID:1970] synonym: "fallopian tube malignant mixed mesodermal (mullerian) tumour" EXACT OMO:0003005 [] synonym: "fallopian tube malignant mixed mesodermal (Müllerian) tumor" EXACT [NCIT:C40124] synonym: "fallopian tube malignant mixed mesodermal (Müllerian) tumour" EXACT OMO:0003005 [] synonym: "fallopian tube malignant mixed Mullerian tumor" EXACT [DOID:1970] synonym: "fallopian tube malignant mixed Mullerian tumour" EXACT OMO:0003005 [] xref: DOID:1970 {source="MONDO:equivalentTo"} xref: EFO:1000252 {source="MONDO:equivalentTo"} xref: MONDO:0006207 xref: NCIT:C40124 {source="EFO:1000252", source="DOID:1970", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C40124 {source="EFO:1000252", source="DOID:1970", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1517117 {source="DOID:1970", source="MONDO:equivalentTo", source="NCIT:C40124"} is_a: EFO:1000251 {source="EFO:1000252"} ! Fallopian Tube Carcinoma is_a: MONDO:0002928 {source="DOID:1970", source="MONDO:Redundant", source="NCIT:C40124/inferred"} ! carcinosarcoma property_value: exactMatch DOID:1970 property_value: exactMatch DOID:1970 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1517117 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1517117 property_value: exactMatch NCIT:C40124 property_value: exactMatch NCIT:C40124 [Term] id: EFO:1000253 name: Fallopian Tube Serous Adenocarcinoma def: "A serous adenocarcinoma that arises from the fallopian tube. It is usually a high grade invasive adenocarcinoma." [NCIT:C40099] synonym: "fallopian tube serous adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "fallopian tube serous adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C40099] synonym: "fallopian tube serous adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: DOID:5598 {source="MONDO:equivalentTo"} xref: EFO:1000253 {source="MONDO:equivalentTo"} xref: MONDO:0006208 xref: NCIT:C40099 {source="DOID:5598", source="EFO:1000253", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C40099 {source="DOID:5598", source="EFO:1000253", source="MONDO:equivalentTo", source="exact-label-match"} xref: UMLS:C1517124 {source="DOID:5598", source="MONDO:equivalentTo", source="NCIT:C40099"} is_a: EFO:0003825 {source="DOID:5598", source="EFO:1000253", source="MONDO:Redundant", source="NCIT:C40099"} ! serous adenocarcinoma is_a: MONDO:0002746 {source="DOID:5598", source="MONDO:Redundant", source="NCIT:C40099"} ! fallopian tube adenocarcinoma property_value: exactMatch DOID:5598 property_value: exactMatch DOID:5598 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1517124 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1517124 property_value: exactMatch NCIT:C40099 property_value: exactMatch NCIT:C40099 [Term] id: EFO:1000254 name: Fibroadenoma def: "A benign tumor of the breast characterized by the presence of stromal and epithelial elements. It presents as a painless, solitary, slow growing, firm, and mobile mass. It is the most common benign breast lesion. It usually occurs in women of childbearing age. The majority of fibroadenomas do not recur after complete excision. A slightly increased risk of developing cancer within fibroadenomas or in the breast tissue of patients previously treated for fibroadenomas has been reported." [] xref: MedDRA:10063384 xref: NCIt:C3744 is_a: EFO:0003869 ! breast neoplasm [Term] id: EFO:1000255 name: Fibroblastic Neoplasm def: "A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts." [NCIT:C7075] synonym: "fibroblastic neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "fibroblastic neoplasm" EXACT [NCIT:C7075] synonym: "fibroblastic neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "fibroblastic tumor" EXACT [NCIT:C7075] synonym: "fibroblastic tumour" EXACT OMO:0003005 [] synonym: "fibrocytic neoplasm" EXACT [NCIT:C7075] synonym: "fibrocytic tumor" EXACT [NCIT:C7075] synonym: "fibrocytic tumour" EXACT OMO:0003005 [] synonym: "fibrogenic neoplasm" EXACT [NCIT:C7075] synonym: "fibrogenicTumor" EXACT [NCIT:C7075] synonym: "fibrous neoplasm" EXACT [NCIT:C7075] synonym: "fibrous tumor" EXACT [NCIT:C7075] synonym: "fibrous tumour" EXACT OMO:0003005 [] xref: EFO:1000255 {source="MONDO:equivalentTo"} xref: MONDO:0006209 xref: NCIT:C7075 {source="MONDO:equivalentTo", source="EFO:1000255"} is_a: MONDO:0002616 {source="MONDO:Redundant", source="NCIT:C7075"} ! mesenchymal cell neoplasm is_a: MONDO:0021581 ! connective tissue neoplasm relationship: EFO:0000784 CL:0000057 ! has_disease_location fibroblast property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0206643 property_value: exactMatch NCIT:C7075 property_value: exactMatch NCIT:C7075 [Term] id: EFO:1000256 name: Fibrolamellar Carcinoma def: "A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers." [NCIT:C4131] subset: ordo_disease {source="Orphanet:401920"} synonym: "eosinophilic glassy cell hepatoma" RELATED [GARD:0009396] synonym: "eosinophilic hepatocellular carcinoma with lamellar fibrosis" RELATED [GARD:0009396] synonym: "FHCC" EXACT ABBREVIATION [Orphanet:401920] synonym: "fibrolamellar cancer" EXACT [NCIT:C4131] synonym: "fibrolamellar carcinoma" EXACT [MONDO:0018427, NCIT:C4131] synonym: "fibrolamellar carcinoma of liver cells" EXACT [NCIT:C4131] synonym: "fibrolamellar carcinoma of the liver cells" EXACT [NCIT:C4131] synonym: "fibrolamellar hepatocarcinoma" EXACT [Orphanet:401920] synonym: "fibrolamellar hepatocellular carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "fibrolamellar hepatocellular carcinoma" EXACT [DOID:5015, NCIT:C4131] synonym: "fibrolamellar hepatocellular carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "fibrolamellar oncocytic hepatoma" RELATED [GARD:0009396] synonym: "fibrolamellar variant of hepatocellular carcinoma" RELATED [GARD:0009396] synonym: "FL-HCC" RELATED [GARD:0009396] synonym: "FLC" EXACT ABBREVIATION [NCIT:C4131, ONCOTREE:FLC] synonym: "hepatocellular carcinoma (fibrolamellar variant)" RELATED [GARD:0009396] synonym: "hepatocellular carcinoma with increased stromal fibrosis" RELATED [GARD:0009396] synonym: "hepatocellular carcinoma, fibrolamellar" EXACT [DOID:5015] synonym: "hepatocellular fibrolamellar carcinoma" EXACT [NCIT:C4131] synonym: "liver cell fibrolamellar carcinoma" EXACT [NCIT:C4131] synonym: "oncocytic hepatocellular tumor" EXACT [DOID:5015, NCIT:C4131] synonym: "oncocytic hepatocellular tumour" EXACT OMO:0003005 [] synonym: "polygonal cell hepatocellular carcinoma with fibrous stroma" RELATED [GARD:0009396] synonym: "polygonal cell type hepatocellular carcinoma with fibrous Stroma" EXACT [NCIT:C4131] xref: DOID:5015 {source="MONDO:equivalentTo"} xref: EFO:1000256 {source="MONDO:equivalentTo"} xref: GARD:0009396 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: ICD10:C22.0 {source="Orphanet:401920", source="ORDO:401920/ntbt"} xref: ICDO:8171/3 {source="NCIT:C4131"} xref: MESH:C537258 {source="DOID:5015", source="MONDO:equivalentTo"} xref: MONDO:0006210 xref: NCIT:C4131 {source="DOID:5015", source="EFO:1000256", source="MONDO:equivalentTo"} xref: ONCOTREE:FLC {source="MONDO:equivalentTo"} xref: Orphanet:401920 {source="MONDO:equivalentTo"} xref: SCTID:253018005 {source="DOID:5015", source="MONDO:equivalentTo"} xref: UMLS:C0334287 {source="NCIT:C4131", source="DOID:5015", source="Orphanet:401920", source="MONDO:equivalentTo"} is_a: EFO:0000182 {source="DOID:5015", source="DOID:5015/inferred", source="EFO:1000256", source="MESH:C537258", source="NCIT:C4131"} ! hepatocellular carcinoma property_value: closeMatch http://identifiers.org/snomedct/15619004 property_value: exactMatch DOID:5015 property_value: exactMatch DOID:5015 property_value: exactMatch http://identifiers.org/mesh/C537258 property_value: exactMatch http://identifiers.org/mesh/C537258 property_value: exactMatch http://identifiers.org/snomedct/253018005 property_value: exactMatch http://identifiers.org/snomedct/253018005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334287 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334287 property_value: exactMatch NCIT:C4131 property_value: exactMatch NCIT:C4131 property_value: exactMatch Orphanet:401920 [Term] id: EFO:1000257 name: Fibrous Hamartoma of Infancy def: "A poorly circumscribed neoplasm arising from the soft tissues in infants. It is characterized by the presence of bland fibroblastic spindle cells, collagenous stroma formation, primitive mesenchymal round cells, and mature fat cells. These components combined form a distinct organoid pattern." [NCIT:P378] synonym: "fibrous hamartoma" EXACT [NCIT:C3942] synonym: "fibrous hamartoma of infancy" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "fibrous hamartoma of infancy" EXACT [NCIT:C3942] synonym: "fibrous hamartoma of infancy" EXACT [] {comment="preferred label from MONDO"} synonym: "infantile fibrous hamartoma" EXACT [NCIT:C3942] xref: EFO:1000257 {source="MONDO:equivalentTo"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="i2s"} xref: MONDO:0006211 xref: NCIT:C3942 {source="MONDO:equivalentTo", source="EFO:1000257"} xref: SCTID:56364004 {source="MONDO:equivalentTo"} xref: UMLS:C0265979 {source="MONDO:equivalentTo", source="NCIT:C3942"} is_a: MONDO:0024478 {source="NCIT:C3942"} ! mesenchymal hamartoma relationship: part_of EFO:0001355 ! infant property_value: exactMatch http://identifiers.org/snomedct/56364004 property_value: exactMatch http://identifiers.org/snomedct/56364004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265979 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265979 property_value: exactMatch NCIT:C3942 property_value: exactMatch NCIT:C3942 [Term] id: EFO:1000258 name: Fibrous Meningioma def: "A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix." [] xref: NCIt:C4330 is_a: EFO:0003851 ! meningeal neoplasm relationship: EFO:0000784 UBERON:0002360 ! has_disease_location meninx [Term] id: EFO:1000259 name: Flat Urothelial Hyperplasia def: "A type of hyperplasia that is characterized by a marked thickening of the urinary tract epithelium. There is no evidence of cytologic atypia. -- 2003" [NCIT:C27878] synonym: "flat urothelial hyperplasia" EXACT [] {comment="preferred label from MONDO"} synonym: "flat urothelial hyperplasia" EXACT [NCIT:C27878] xref: MONDO:0006212 xref: NCIT:C27878 {source="MONDO:equivalentTo", source="EFO:1000259"} xref: NCIt:C27878 is_a: MONDO:0024483 {source="NCIT:C27878"} ! urothelial hyperplasia property_value: exactMatch NCIT:C27878 [Term] id: EFO:1000260 name: Floor of Mouth Mucoepidermoid Carcinoma def: "A mucoepidermoid carcinoma of the oral cavity that arises from the floor of the mouth." [NCIT:C8178] synonym: "floor of mouth mucoepidermoid carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "floor of mouth mucoepidermoid carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "mouth floor mucoepidermoid carcinoma" EXACT [MONDO:patterns/location] synonym: "mucoepidermoid carcinoma of floor of mouth" EXACT [NCIT:C8178] synonym: "mucoepidermoid carcinoma of the floor of mouth" EXACT [NCIT:C8178] xref: EFO:1000260 {source="MONDO:equivalentTo"} xref: MONDO:0006213 xref: NCIT:C8178 {source="EFO:1000260", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C8178 {source="EFO:1000260", source="MONDO:equivalentTo", source="exact-label-match"} xref: UMLS:C0280310 {source="NCIT:C8178", source="MONDO:equivalentTo"} is_a: MONDO:0021343 {source="MONDO:Redundant", source="NCIT:C8178"} ! carcinoma of floor of mouth is_a: MONDO:0044964 ! oral cavity mucoepidermoid carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280310 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280310 property_value: exactMatch NCIT:C8178 property_value: exactMatch NCIT:C8178 property_value: http://purl.org/dc/terms/conformsTo mucoepidermoid:carcinoma.yaml [Term] id: EFO:1000261 name: Follicular Variant Thyroid Gland Papillary Carcinoma def: "A nonencapsulated variant of papillary carcinoma of the thyroid gland characterized by the predominance of follicular structures. The malignant follicular cells display the nuclear features that characterize the papillary adenocarcinomas of the thyroid gland." [NCIT:P378] synonym: "follicular variant thyroid gland papillary carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "follicular variant thyroid gland papillary carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "FVPTC" EXACT ABBREVIATION [NCIT:C126594] xref: EFO:1000261 {source="MONDO:equivalentTo"} xref: MONDO:0006214 xref: NCIT:C126594 {source="MONDO:equivalentTo"} xref: UMLS:C3714651 {source="MONDO:equivalentTo"} is_a: EFO:0000228 {source="EFO:1000261", source="NCIT:C126594/inferred"} ! adenocarcinoma is_a: EFO:0001379 ! endocrine system disease property_value: closeMatch NCIT:C7381 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3714651 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3714651 property_value: exactMatch NCIT:C126594 property_value: exactMatch NCIT:C126594 [Term] id: EFO:1000262 name: Gallbladder Adenocarcinoma def: "A carcinoma that arises from glandular epithelial cells of the gall bladder." [MONDO:DesignPattern] def: "A carcinoma that arises from glandular epithelial cells of the gall bladder." [https://orcid.org/0000-0002-6601-2165] synonym: "adenocarcinoma of gallbladder" EXACT [NCIT:C9166] synonym: "adenocarcinoma of the gallbladder" EXACT [DOID:3500, NCIT:C9166] synonym: "gall bladder adenocarcinoma" EXACT [MONDO:patterns/location] synonym: "gallbladder adenocarcinoma" EXACT [NCIT:C9166] synonym: "gallbladder adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "gallbladder adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} xref: DOID:3500 {source="MONDO:equivalentTo"} xref: EFO:1000262 {source="MONDO:equivalentTo"} xref: MONDO:0006215 xref: NCIT:C9166 {source="EFO:1000262", source="DOID:3500", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C9166 {source="EFO:1000262", source="DOID:3500", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C0279651 {source="NCIT:C9166", source="DOID:3500", source="MONDO:equivalentTo"} is_a: EFO:0000228 {source="DOID:3500", source="EFO:1000262", source="MONDO:Redundant", source="NCIT:C9166"} ! adenocarcinoma is_a: EFO:1001956 {source="DOID:3500", source="MONDO:Redundant", source="NCIT:C9166"} ! gallbladder carcinoma property_value: exactMatch DOID:3500 property_value: exactMatch DOID:3500 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279651 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279651 property_value: exactMatch NCIT:C9166 property_value: exactMatch NCIT:C9166 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/adenocarcinoma.yaml [Term] id: EFO:1000263 name: Gallbladder Adenoma def: "A polypoid epithelial neoplasm that arises from the gallbladder. According to the neoplastic growth pattern, it is classified as tubular, tubulopapillary, or papillary." [NCIT:C7720] synonym: "adenoma of gallbladder" EXACT [NCIT:C7720] synonym: "adenoma of the gallbladder" EXACT [NCIT:C7720] synonym: "gall bladder adenoma" EXACT [MONDO:patterns/location] synonym: "gallbladder adenoma" EXACT [NCIT:C7720] synonym: "gallbladder adenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "gallbladder adenoma" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0050893 {source="MONDO:equivalentTo"} xref: EFO:1000263 {source="MONDO:equivalentTo"} xref: MONDO:0006216 xref: NCIT:C7720 {source="EFO:1000263", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C7720 {source="EFO:1000263", source="MONDO:equivalentTo", source="exact-label-match"} xref: UMLS:C0238137 {source="MONDO:equivalentTo", source="NCIT:C7720"} is_a: EFO:0004606 ! gallbladder neoplasm is_a: EFO:1000217 {source="NCIT:C7720"} ! Digestive System Adenoma is_a: MONDO:0021416 {source="MONDO:Redundant", source="NCIT:C7720"} ! polyp of gallbladder is_a: MONDO:0700225 ! hereditary gallbladder disorder is_a: Orphanet:271835 ! Genetic digestive tract tumor property_value: exactMatch DOID:0050893 property_value: exactMatch DOID:0050893 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238137 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238137 property_value: exactMatch NCIT:C7720 property_value: exactMatch NCIT:C7720 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: excluded_subClassOf MONDO:0005304 {source="DOID:0050893"} property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/adenoma.yaml [Term] id: EFO:1000264 name: Gallbladder Adenosquamous Carcinoma def: "A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components." [NCIT:C7356] synonym: "adenosquamous carcinoma of gallbladder" EXACT [DOID:5627, NCIT:C7356] synonym: "adenosquamous carcinoma of the gallbladder" EXACT [DOID:5627, NCIT:C7356] synonym: "adenosquamous gallbladder carcinoma" EXACT [MONDO:0003552] synonym: "gall bladder adenosquamous carcinoma" EXACT [MONDO:patterns/location] synonym: "gallbladder adenosquamous cancer" EXACT [NCIT:C7356] synonym: "gallbladder adenosquamous carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "gallbladder adenosquamous carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "gallbladder adenosquamous carcinoma" EXACT [NCIT:C7356] synonym: "GBASC" RELATED ABBREVIATION [ONCOTREE:GBASC] xref: DOID:5627 {source="MONDO:equivalentTo"} xref: EFO:1000264 {source="MONDO:equivalentTo"} xref: MONDO:0006217 xref: NCIT:C7356 {source="EFO:1000264", source="MONDO:equivalentTo", source="DOID:5627"} xref: ONCOTREE:GBASC {source="MONDO:equivalentTo"} xref: UMLS:C1333741 {source="NCIT:C7356", source="MONDO:equivalentTo", source="DOID:5627"} is_a: EFO:1000073 {source="MONDO:Redundant", source="NCIT:C7356"} ! Adenosquamous Carcinoma is_a: EFO:1000267 ! Gallbladder Squamous Cell Carcinoma property_value: exactMatch DOID:5627 property_value: exactMatch DOID:5627 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333741 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333741 property_value: exactMatch NCIT:C7356 property_value: exactMatch NCIT:C7356 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: http://purl.org/dc/terms/conformsTo adenosquamous:carcinoma.yaml [Term] id: EFO:1000265 name: Gallbladder Biliary Intraepithelial Neoplasia def: "A neoplastic, non-invasive lesion that affects the gallbladder epithelium. It is characterized by the presence of atypical epithelial cells with an increased nuclear/cytoplasmic ratio, nuclear hyperchromasia, and loss of nuclear polarity." [NCIT:C43606] synonym: "gallbladder biliary intraepithelial neoplasia" EXACT [] {comment="preferred label from MONDO"} synonym: "gallbladder biliary intraepithelial neoplasia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "gallbladder biliary intraepithelial neoplasia" EXACT [NCIT:C43606] synonym: "gallbladder BilIN" EXACT [NCIT:C43606] synonym: "gallbladder dysplasia" EXACT [NCIT:C43606] synonym: "gallbladder intraepithelial neoplasia" EXACT [NCIT:C43606] synonym: "intracystic biliary intraepithelial neoplasia" EXACT [NCIT:C43606] synonym: "intracystic BilIN" EXACT [NCIT:C43606] xref: EFO:1000265 {source="MONDO:equivalentTo"} xref: MONDO:0006218 xref: NCIT:C43606 {source="EFO:1000265", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C43606 {source="EFO:1000265", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1708174 {source="NCIT:C43606", source="MONDO:equivalentTo"} is_a: EFO:0004606 {source="MONDO:Redundant", source="NCIT:C43606"} ! gallbladder neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1708174 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1708174 property_value: exactMatch NCIT:C43606 property_value: exactMatch NCIT:C43606 [Term] id: EFO:1000266 name: Gallbladder Small Cell Neuroendocrine Carcinoma def: "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells." [NCIT:C6763] synonym: "gall bladder small cell carcinoma" EXACT [MONDO:patterns/location] synonym: "gallbladder Oat cell carcinoma" EXACT [NCIT:C6763] synonym: "gallbladder small cell carcinoma" EXACT [MONDO:0004115, NCIT:C6763] synonym: "gallbladder small cell NEC" EXACT [NCIT:C6763] synonym: "gallbladder small cell neuroendocrine carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "gallbladder small cell neuroendocrine carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "gallbladder small cell neuroendocrine carcinoma" EXACT [NCIT:C6763] synonym: "Oat cell carcinoma of gallbladder" EXACT [NCIT:C6763] synonym: "Oat cell carcinoma of the gallbladder" EXACT [DOID:7133, NCIT:C6763] synonym: "small cell carcinoma of gall bladder" EXACT [MONDO:design_pattern] synonym: "small cell carcinoma of gallbladder" EXACT [NCIT:C6763] synonym: "small cell carcinoma of the gallbladder" EXACT [NCIT:C6763] xref: DOID:7133 {source="MONDO:equivalentTo"} xref: EFO:1000266 {source="MONDO:equivalentTo"} xref: MONDO:0006219 xref: NCIT:C6763 {source="MONDO:equivalentTo", source="EFO:1000266", source="DOID:7133"} xref: UMLS:C1333759 {source="MONDO:equivalentTo", source="NCIT:C6763", source="DOID:7133"} is_a: EFO:0008524 {source="DOID:7133", source="MONDO:Redundant", source="NCIT:C6763"} ! small cell carcinoma is_a: EFO:1001956 {source="DOID:7133", source="MONDO:Redundant", source="NCIT:C6763/inferred"} ! gallbladder carcinoma is_a: MONDO:0024502 ! gallbladder neuroendocrine neoplasm is_a: MONDO:0025511 ! inherited neuroendocrine tumor is_a: MONDO:0700225 ! hereditary gallbladder disorder is_a: Orphanet:271847 ! Genetic endocrine tumor property_value: exactMatch DOID:7133 property_value: exactMatch DOID:7133 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333759 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333759 property_value: exactMatch NCIT:C6763 property_value: exactMatch NCIT:C6763 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/small_cell_carcinoma.yaml [Term] id: EFO:1000267 name: Gallbladder Squamous Cell Carcinoma def: "A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells." [NCIT:C9170] synonym: "epidermoid carcinoma of gallbladder" EXACT [NCIT:C9170] synonym: "epidermoid carcinoma of the gallbladder" EXACT [NCIT:C9170] synonym: "epidermoid gallbladder carcinoma" EXACT [DOID:5535, NCIT:C9170] synonym: "gall bladder squamous cell carcinoma" EXACT [MONDO:patterns/location] synonym: "gallbladder squamous cell cancer" EXACT [NCIT:C9170] synonym: "gallbladder squamous cell carcinoma" EXACT [NCIT:C9170] synonym: "gallbladder squamous cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "gallbladder squamous cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "squamous cell carcinoma of gallbladder" EXACT [NCIT:C9170] synonym: "squamous cell carcinoma of the gallbladder" EXACT [DOID:5535, NCIT:C9170] synonym: "squamous cell gallbladder carcinoma" EXACT [NCIT:C9170] xref: DOID:5535 {source="MONDO:equivalentTo"} xref: EFO:1000267 {source="MONDO:equivalentTo"} xref: MONDO:0006220 xref: NCIT:C9170 {source="DOID:5535", source="EFO:1000267", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C9170 {source="DOID:5535", source="EFO:1000267", source="MONDO:equivalentTo", source="exact-label-match"} xref: UMLS:C0279658 {source="DOID:5535", source="MONDO:equivalentTo", source="NCIT:C9170"} is_a: EFO:0000707 {source="DOID:5535", source="EFO:1000267", source="MONDO:Redundant", source="NCIT:C9170"} ! squamous cell carcinoma is_a: EFO:1001956 {source="DOID:5535", source="MONDO:Redundant", source="NCIT:C9170"} ! gallbladder carcinoma property_value: exactMatch DOID:5535 property_value: exactMatch DOID:5535 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279658 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279658 property_value: exactMatch NCIT:C9170 property_value: exactMatch NCIT:C9170 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/squamous_cell_carcinoma.yaml [Term] id: EFO:1000268 name: Gastric Adenoma def: "A neoplastic polyp that arises from the stomach. This category includes intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps." [NCIT:C7699] synonym: "adenoma of stomach" EXACT [NCIT:C7699] synonym: "adenoma of the stomach" EXACT [NCIT:C7699] synonym: "gastric adenoma" EXACT [] {comment="preferred label from MONDO"} synonym: "gastric adenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "gastric adenoma" EXACT [NCIT:C7699] synonym: "stomach adenoma" EXACT [MONDO:patterns/location] xref: EFO:1000268 {source="MONDO:equivalentTo"} xref: MONDO:0006221 xref: NCIT:C7699 {source="MONDO:equivalentTo", source="EFO:1000268", source="MONDO:exact-label-match"} xref: NCIT:C7699 {source="MONDO:equivalentTo", source="EFO:1000268", source="exact-label-match"} xref: UMLS:C0149826 {source="MONDO:equivalentTo", source="NCIT:C7699"} is_a: EFO:0003897 {source="MONDO:Redundant", source="NCIT:C7699"} ! stomach neoplasm is_a: EFO:1000217 {source="MONDO:Redundant", source="NCIT:C7699"} ! Digestive System Adenoma is_a: MONDO:0008277 {source="NCIT:C7699"} ! stomach polyp property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149826 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149826 property_value: exactMatch NCIT:C7699 property_value: exactMatch NCIT:C7699 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/adenoma.yaml [Term] id: EFO:1000269 name: Gastric Choriocarcinoma def: "A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases." [NCIT:C95749] synonym: "gastric choriocarcinoma" EXACT [NCIT:C95749] synonym: "gastric choriocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "gastric choriocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:1000269 {source="MONDO:equivalentTo"} xref: MONDO:0006222 xref: NCIT:C95749 {source="MONDO:equivalentTo", source="EFO:1000269", source="MONDO:exact-label-match"} xref: NCIT:C95749 {source="MONDO:equivalentTo", source="EFO:1000269", source="exact-label-match"} xref: UMLS:C2987398 {source="MONDO:equivalentTo", source="NCIT:C95749"} is_a: EFO:0002893 {source="EFO:1000269", source="MONDO:Redundant", source="NCIT:C95749"} ! choriocarcinoma is_a: MONDO:0003112 {source="MONDO:Redundant", source="NCIT:C95749"} ! malignant gastric germ cell tumor is_a: MONDO:0003578 {source="NCIT:C95749"} ! extragonadal nonseminomatous germ cell tumor property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2987398 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2987398 property_value: exactMatch NCIT:C95749 property_value: exactMatch NCIT:C95749 [Term] id: EFO:1000270 name: Gastric Diffuse Large B-Cell Lymphoma def: "An extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach." [NCIT:C5253] synonym: "gastric diffuse large B-cell lymphoma" EXACT [NCIT:C5253] synonym: "gastric diffuse large B-cell lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "gastric diffuse large B-cell lymphoma" EXACT [] {comment="preferred label from MONDO"} synonym: "primary diffuse large B-cell gastric lymphoma" EXACT [NCIT:C5253] synonym: "primary diffuse large B-cell lymphoma of stomach" EXACT [NCIT:C5253] synonym: "primary diffuse large B-cell lymphoma of the stomach" EXACT [NCIT:C5253] synonym: "primary gastric diffuse large B-cell lymphoma" EXACT [NCIT:C5253] xref: EFO:1000270 {source="MONDO:equivalentTo"} xref: MONDO:0006223 xref: NCIT:C5253 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000270"} xref: NCIT:C5253 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000270"} xref: UMLS:C1335483 {source="NCIT:C5253", source="MONDO:equivalentTo"} is_a: EFO:0000403 {source="EFO:1000270", source="MONDO:Redundant", source="NCIT:C5253"} ! diffuse large B-cell lymphoma is_a: EFO:0010282 ! gastrointestinal disease relationship: EFO:0000784 CL:0000945 ! has_disease_location lymphocyte of B lineage property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335483 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335483 property_value: exactMatch NCIT:C5253 property_value: exactMatch NCIT:C5253 [Term] id: EFO:1000271 name: Gastric Hamartomatous Polyp def: "A non-neoplastic polyp that arises from the stomach and is characterized by the presence of connective tissue stroma overgrowth and cystic formations." [NCIT:C4373] synonym: "gastric hamartomatous polyp" EXACT [] {comment="preferred label from MONDO"} synonym: "gastric hamartomatous polyp" EXACT [NCIT:C4373] synonym: "hamartoma of stomach" EXACT [NCIT:C4373] synonym: "hamartoma of the stomach" EXACT [NCIT:C4373] synonym: "stomach hamartoma (disease)" EXACT [MONDO:patterns/location] xref: MONDO:0006224 xref: NCIT:C4373 {source="EFO:1000271", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIt:C4373 xref: SCTID:235685007 {source="MONDO:equivalentTo"} xref: UMLS:C0341225 {source="NCIT:C4373", source="MONDO:equivalentTo"} is_a: EFO:0003897 ! stomach neoplasm is_a: EFO:1000280 {source="NCIT:C4373"} ! Gastrointestinal Hamartoma property_value: exactMatch http://identifiers.org/snomedct/235685007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341225 property_value: exactMatch NCIT:C4373 [Term] id: EFO:1000272 name: Gastric Mantle Cell Lymphoma def: "A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course." [NCIT:C27440] synonym: "gastric mantle cell lymphoma" EXACT [NCIT:C27440] synonym: "gastric mantle cell lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "gastric mantle cell lymphoma" EXACT [] {comment="preferred label from MONDO"} synonym: "mantle cell lymphoma of stomach" EXACT [NCIT:C27440] synonym: "mantle cell lymphoma of the stomach" EXACT [NCIT:C27440] synonym: "stomach mantle cell lymphoma" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: EFO:1000272 {source="MONDO:equivalentTo"} xref: MONDO:0006225 xref: NCIT:C27440 {source="EFO:1000272", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C27440 {source="EFO:1000272", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1333780 {source="NCIT:C27440", source="MONDO:equivalentTo"} is_a: EFO:1001469 {source="MONDO:Redundant", source="NCIT:C27440"} ! Mantle cell lymphoma is_a: MONDO:0000621 ! immune system cancer is_a: MONDO:0042493 ! gastric non-hodgkin lymphoma relationship: EFO:0000784 EFO:1001468 ! has_disease_location mantle cell property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333780 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333780 property_value: exactMatch NCIT:C27440 property_value: exactMatch NCIT:C27440 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:1000273 name: Gastric Metaplasia def: "Intestinal metaplasia of the gastric mucosa is an intermediate precancerous gastric lesion in the gastric cancer cascade from chronic gastritis and atrophy to dysplasia and adenocarcinoma. Although the risk of gastric cancer is increased in patients with intestinal metaplasia, the absolute risk is low. Subsets of patients with intestinal metaplasia may be at higher risk for progression. However, novel biomarkers are needed to better identify high-risk subgroups, and definitive studies are essential to determine the optimal interval for cancer surveillance in patients at increased risk for gastric cancer. (http://www.uptodate.com/contents/gastric-intestinal-metaplasia)" [] xref: NCIt:C8361 is_a: EFO:0003897 ! stomach neoplasm [Term] id: EFO:1000274 name: Gastric Mucosa-Associated Lymphoid Tissue Lymphoma def: "A low grade, indolent B-cell lymphoma, usually associated with Helicobacter pylori infection. Morphologically it is characterized by a dense mucosal atypical lymphocytic (centrocyte-like cell) infiltrate with often prominent lymphoepithelial lesions and plasmacytic differentiation. Approximately 40% of gastric MALT lymphomas carry the t(11;18)(q21;q21). Such cases are resistant to Helicobacter pylori therapy." [NCIT:C5266] synonym: "gastric MALT lymphoma" EXACT [NCIT:C5266] synonym: "gastric MALToma" EXACT [NCIT:C5266] synonym: "gastric mucosa-associated lymphoid tissue lymphoma" EXACT [NCIT:C5266] synonym: "gastric mucosa-associated lymphoid tissue lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "gastric mucosa-associated lymphoid tissue lymphoma" EXACT [] {comment="preferred label from MONDO"} synonym: "MALT lymphoma of stomach" EXACT [NCIT:C5266] synonym: "MALT lymphoma of the stomach" EXACT [NCIT:C5266] synonym: "MALToma of stomach" EXACT [NCIT:C5266] synonym: "MALToma of the stomach" EXACT [NCIT:C5266] synonym: "primary gastric B-cell MALT lymphoma" EXACT [NCIT:C5266] synonym: "primary gastric MALT lymphoma" EXACT [NCIT:C5266] synonym: "primary MALT lymphoma of stomach" EXACT [NCIT:C5266] synonym: "primary MALT lymphoma of the stomach" EXACT [NCIT:C5266] synonym: "stomach MALT lymphoma" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: EFO:1000274 {source="MONDO:equivalentTo"} xref: MONDO:0006226 xref: NCIT:C5266 {source="EFO:1000274", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C5266 {source="EFO:1000274", source="MONDO:equivalentTo", source="exact-label-match"} xref: UMLS:C1333782 {source="NCIT:C5266", source="MONDO:equivalentTo"} is_a: EFO:0000191 {source="MONDO:Redundant", source="NCIT:C5266"} ! MALT lymphoma is_a: MONDO:0042493 ! gastric non-hodgkin lymphoma is_a: Orphanet:271835 ! Genetic digestive tract tumor relationship: EFO:0000784 CL:0000945 ! has_disease_location lymphocyte of B lineage property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333782 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333782 property_value: exactMatch NCIT:C5266 property_value: exactMatch NCIT:C5266 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:1000275 name: Gastric Neuroendocrine Tumor G1 def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the stomach. The vast majority of cases arise from the corpus-fundus region. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. It may be associated with autoimmune chronic atrophic gastritis, multiple endocrine neoplasia type 1, or it may be sporadic." [NCIT:P378] synonym: "gastric carcinoid tumor" EXACT [NCIT:C4635] synonym: "gastric carcinoid tumour" EXACT OMO:0003005 [] synonym: "gastric ECL cell NET" EXACT [NCIT:C4635] synonym: "gastric ECL cell NET G1" EXACT [NCIT:C4635] synonym: "gastric ECL cell, histamine-producing NET" EXACT [NCIT:C4635] synonym: "gastric ECL-cell carcinoid tumor" EXACT [NCIT:C4635] synonym: "gastric ECL-cell carcinoid tumour" EXACT OMO:0003005 [] synonym: "gastric enterochromaffin-like cell carcinoid tumor" EXACT [NCIT:C4635] synonym: "gastric enterochromaffin-like cell carcinoid tumour" EXACT OMO:0003005 [] synonym: "gastric enterochromaffin-like cell neuroendocrine tumor" EXACT [NCIT:C4635] synonym: "gastric enterochromaffin-like cell neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "gastric NET G1" EXACT [NCIT:C4635] synonym: "gastric neuroendocrine tumor G1" EXACT [] {comment="preferred label from MONDO"} synonym: "gastric neuroendocrine tumor G1" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "grade 1 neuroendocrine neoplasm of stomach" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "stomach carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "stomach carcinoid tumour" EXACT OMO:0003005 [] synonym: "stomach NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "stomach neuroendocrine neoplasm G1" EXACT [] synonym: "stomach neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] xref: EFO:1000275 {source="MONDO:equivalentTo"} xref: MONDO:0006227 xref: NCIT:C4635 {source="EFO:1000275", source="MONDO:equivalentTo"} xref: UMLS:C0349529 {source="MONDO:equivalentTo", source="NCIT:C4635"} is_a: EFO:0004243 {source="EFO:1000275", source="MONDO:Redundant", source="NCIT:C4635/inferred"} ! carcinoid tumor is_a: MONDO:0015062 {source="NCIT:C4635"} ! gastric neuroendocrine tumor, well differentiated, low or intermediate grade relationship: has_characteristic MONDO:0024491 ! tumor grade 1, general grading system property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349529 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349529 property_value: exactMatch NCIT:C4635 property_value: exactMatch NCIT:C4635 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/neuroendocrine_neoplasm_grade1.yaml [Term] id: EFO:1000276 name: Gastric Papillary Adenocarcinoma def: "A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores." [NCIT:C5472] synonym: "gastric papillary adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "gastric papillary adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "gastric papillary adenocarcinoma" EXACT [NCIT:C5472] synonym: "papillary adenocarcinoma of stomach" EXACT [DOID:5593, NCIT:C5472] synonym: "papillary adenocarcinoma of the stomach" EXACT [NCIT:C5472] synonym: "papillary stomach adenocarcinoma" RELATED [ONCOTREE:PSTAD] synonym: "stomach papillary adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:5593 {source="MONDO:equivalentTo"} xref: EFO:1000276 {source="MONDO:equivalentTo"} xref: MONDO:0006228 xref: NCIT:C5472 {source="EFO:1000276", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5593"} xref: NCIT:C5472 {source="EFO:1000276", source="MONDO:equivalentTo", source="DOID:5593", source="exact-label-match"} xref: ONCOTREE:PSTAD {source="MONDO:equivalentTo"} xref: UMLS:C1333785 {source="NCIT:C5472", source="MONDO:equivalentTo", source="DOID:5593"} is_a: EFO:0000503 {source="DOID:5593", source="EFO:1000276", source="MONDO:Redundant", source="NCIT:C5472/inferred", source="ONCOTREE:PSTAD"} ! gastric adenocarcinoma is_a: MONDO:0002512 {source="DOID:5593", source="MONDO:Redundant", source="NCIT:C5472"} ! papillary adenocarcinoma property_value: exactMatch DOID:5593 property_value: exactMatch DOID:5593 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333785 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333785 property_value: exactMatch NCIT:C5472 property_value: exactMatch NCIT:C5472 [Term] id: EFO:1000277 name: Gastric Small Cell Neuroendocrine Carcinoma def: "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells." [NCIT:C6764] synonym: "gastric Oat cell carcinoma" EXACT [NCIT:C6764] synonym: "gastric small cell carcinoma" EXACT [MONDO:0003920, NCIT:C6764] synonym: "gastric small cell neuroendocrine carcinoma" EXACT [NCIT:C6764] synonym: "gastric small cell neuroendocrine carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "gastric small cell neuroendocrine carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "Oat cell carcinoma of stomach" EXACT [NCIT:C6764] synonym: "Oat cell carcinoma of the stomach" EXACT [NCIT:C6764] synonym: "small cell carcinoma of stomach" EXACT [DOID:6552, NCIT:C6764] synonym: "small cell carcinoma of the stomach" EXACT [NCIT:C6764] synonym: "stomach small cell carcinoma" EXACT [MONDO:patterns/location] synonym: "STSC" RELATED ABBREVIATION [ONCOTREE:STSC] xref: DOID:6552 {source="MONDO:equivalentTo"} xref: EFO:1000277 {source="MONDO:equivalentTo"} xref: MONDO:0006229 xref: NCIT:C6764 {source="MONDO:equivalentTo", source="EFO:1000277", source="DOID:6552"} xref: ONCOTREE:STSC {source="MONDO:equivalentTo"} xref: UMLS:C1333788 {source="MONDO:equivalentTo", source="NCIT:C6764", source="DOID:6552"} is_a: EFO:0000178 {source="DOID:6552", source="EFO:1000277", source="MONDO:Redundant", source="NCIT:C6764/inferred"} ! gastric carcinoma is_a: EFO:0008524 {source="DOID:6552", source="MONDO:Redundant", source="NCIT:C6764"} ! small cell carcinoma is_a: MONDO:0003111 ! gastric neuroendocrine neoplasm property_value: exactMatch DOID:6552 property_value: exactMatch DOID:6552 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333788 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333788 property_value: exactMatch NCIT:C6764 property_value: exactMatch NCIT:C6764 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/small_cell_carcinoma.yaml [Term] id: EFO:1000278 name: Gastric Squamous Cell Carcinoma def: "A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body." [NCIT:C5475] subset: ordo_disease {source="Orphanet:418959"} synonym: "gastric (stomach) squamous cell cancer" EXACT [NCIT:C5475] synonym: "gastric squamous cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "gastric squamous cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "gastric squamous cell carcinoma" EXACT [NCIT:C5475, Orphanet:418959] synonym: "squamous cell carcinoma of stomach" EXACT [DOID:5516, MONDO:0018482, NCIT:C5475] synonym: "squamous cell carcinoma of the stomach" EXACT [NCIT:C5475] synonym: "stomach squamous cell carcinoma" EXACT [MONDO:patterns/location] xref: DOID:5516 {source="MONDO:equivalentTo"} xref: EFO:1000278 {source="MONDO:equivalentTo"} xref: ICD10:C16.0 {source="Orphanet:418959", source="ORDO:418959/nd"} xref: ICD10:C16.1 {source="Orphanet:418959", source="ORDO:418959/nd"} xref: ICD10:C16.2 {source="Orphanet:418959", source="ORDO:418959/nd"} xref: ICD10:C16.3 {source="Orphanet:418959", source="ORDO:418959/nd"} xref: ICD10:C16.4 {source="Orphanet:418959", source="ORDO:418959/nd"} xref: ICD10:C16.5 {source="Orphanet:418959", source="ORDO:418959/nd"} xref: ICD10:C16.8 {source="Orphanet:418959", source="ORDO:418959/nd"} xref: MONDO:0006230 xref: NCIT:C5475 {source="EFO:1000278", source="MONDO:equivalentTo", source="DOID:5516"} xref: Orphanet:418959 {source="MONDO:equivalentTo"} xref: SCTID:766980008 {source="MONDO:equivalentTo"} xref: UMLS:C1333789 {source="NCIT:C5475", source="MONDO:equivalentTo", source="DOID:5516"} xref: UMLS:CN237470 {source="MONDO:equivalentTo"} is_a: EFO:0000178 {source="DOID:5516", source="EFO:1000278", source="MONDO:Redundant", source="NCIT:C5475", source="Orphanet:418959"} ! gastric carcinoma is_a: EFO:0000707 {source="DOID:5516", source="EFO:1000278", source="MONDO:Redundant", source="NCIT:C5475"} ! squamous cell carcinoma property_value: exactMatch DOID:5516 property_value: exactMatch DOID:5516 property_value: exactMatch http://identifiers.org/snomedct/766980008 property_value: exactMatch http://identifiers.org/snomedct/766980008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333789 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333789 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237470 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237470 property_value: exactMatch NCIT:C5475 property_value: exactMatch NCIT:C5475 property_value: exactMatch Orphanet:418959 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/squamous_cell_carcinoma.yaml [Term] id: EFO:1000279 name: obsolete_gastric tubular adenocarcinoma property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.65" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use EFO_1000030 label : gastric tubular adenocarcinoma" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_1000030 [Term] id: EFO:1000280 name: Gastrointestinal Hamartoma def: "A non-neoplastic, hamartomatous polyp that arises from the stomach, small intestine, and large intestine. This group includes the juvenile polyps and Peutz-Jeghers polyps." [NCIT:C96475] synonym: "gastrointestinal hamartoma" EXACT [NCIT:C96475] synonym: "gastrointestinal hamartoma" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0006231 xref: NCIT:C96475 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000280"} xref: NCIt:C96475 xref: UMLS:C3272802 {source="MONDO:equivalentTo", source="NCIT:C96475"} is_a: EFO:0008549 ! digestive system neoplasm is_a: EFO:0010282 ! gastrointestinal disease is_a: EFO:1000634 {source="MONDO:Redundant", source="NCIT:C8372", source="NCIT:C96475/inferred"} ! hamartoma is_a: MONDO:0024292 {source="NCIT:C96475"} ! gastrointestinal polyp property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3272802 property_value: exactMatch NCIT:C96475 [Term] id: EFO:1000281 name: Giant Cell Tumor of Soft Tissue def: "A painless, well circumscribed tumor arising in soft tissue, usually of the upper and lower extremities. Morphologically, it is characterized by a multinodular growth pattern. The cellular infiltrate is composed of mononuclear round or oval cells and multinucleated osteoclast-like giant cells, in a rich vascular stroma. It rarely metastasizes." [NCIT:C49107] synonym: "GCT-ST" EXACT [NCIT:C49107] synonym: "giant cell tumor of soft tissue" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "giant cell tumor of soft tissue" EXACT [NCIT:C49107] synonym: "giant cell tumor of soft tissue" EXACT [] {comment="preferred label from MONDO"} synonym: "Osteoclastoma of soft tissue" EXACT [NCIT:C49107] xref: EFO:1000281 {source="MONDO:equivalentTo"} xref: ICDO:9251/1 {source="NCIT:C49107"} xref: MONDO:0006232 xref: NCIT:C49107 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000281"} xref: NCIT:C49107 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000281"} xref: UMLS:C0334553 {source="MONDO:equivalentTo", source="NCIT:C49107"} is_a: EFO:0000691 {source="EFO:1000281"} ! sarcoma is_a: MONDO:0002402 ! malignant giant cell tumor property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334553 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334553 property_value: exactMatch NCIT:C49107 property_value: exactMatch NCIT:C49107 [Term] id: EFO:1000282 name: Gonadal Teratoma def: "A teratoma that arises from the testis or ovary." [NCIT:P378] synonym: "gonadal teratoma" EXACT [NCIT:C98291] synonym: "gonadal teratoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "gonadal teratoma" EXACT [] {comment="preferred label from MONDO"} synonym: "teratoma, gonads" EXACT [NCIT:C98291] xref: EFO:1000282 {source="MONDO:equivalentTo"} xref: MONDO:0006233 xref: NCIT:C98291 {source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C98291 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C3273942 {source="NCIT:C98291", source="MONDO:equivalentTo"} is_a: EFO:0005771 ! ovarian disease is_a: EFO:0009601 ! testicular disease is_a: MONDO:0002601 {source="MONDO:Redundant", source="NCIT:C98291"} ! teratoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3273942 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3273942 property_value: exactMatch NCIT:C98291 property_value: exactMatch NCIT:C98291 [Term] id: EFO:1000283 name: Grade III Prostatic Intraepithelial Neoplasia def: "High grade prostatic intraepithelial neoplasia characterized by the presence of severe architectural and cytologic abnormalities." [NCIT:C3642] synonym: "adenocarcinoma in situ of prostate" EXACT [NCIT:C3642] synonym: "adenocarcinoma in situ of the prostate" EXACT [NCIT:C3642] synonym: "carcinoma in situ of prostate" EXACT [DOID:8634] synonym: "carcinoma in situ of prostate gland" EXACT [MONDO:patterns/carcinoma_in_situ] synonym: "grade 3 pin" EXACT [NCIT:C3642] synonym: "grade 3 prostatic intraepithelial neoplasia" EXACT [NCIT:C3642] synonym: "grade III pin" EXACT [DOID:8634, NCIT:C3642] synonym: "grade III prostatic intraepithelial neoplasia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "grade III prostatic intraepithelial neoplasia" EXACT [] {comment="preferred label from MONDO"} synonym: "pin III" EXACT [DOID:8634] synonym: "prostate adenocarcinoma in situ" EXACT [NCIT:C3642] synonym: "prostate carcinoma in situ" EXACT [MONDO:0004623] synonym: "prostate gland carcinoma in situ" EXACT [] synonym: "prostate gland in situ carcinoma" EXACT [MONDO:patterns/location] synonym: "stage 0 prostate gland carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ] xref: COHD:200970 {source="MONDO:equivalentTo"} xref: DOID:8634 {source="MONDO:equivalentTo"} xref: EFO:1000283 {source="MONDO:equivalentTo"} xref: ICD10:D07.5 {source="DOID:8634", source="MONDO:equivalentTo"} xref: ICD10CM:D07.5 {source="DOID:8634", source="MONDO:equivalentTo"} xref: ICD9:233.4 {source="DOID:8634", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:233.4 {source="DOID:8634", source="MONDO:equivalentTo", source="i2s"} xref: MONDO:0006234 xref: NCIT:C3642 {source="EFO:1000283", source="DOID:8634", source="MONDO:equivalentTo"} xref: SCTID:92691004 {source="DOID:8634", source="MONDO:equivalentTo"} xref: UMLS:C0154088 {source="DOID:8634", source="MONDO:equivalentTo", source="NCIT:C3642"} is_a: EFO:0001663 ! prostate carcinoma is_a: EFO:0002621 {source="EFO:1000283", source="NCIT:C3642/inferred"} ! prostate intraepithelial neoplasia is_a: MONDO:0004647 {source="DOID:8634", source="MONDO:Redundant"} ! in situ carcinoma property_value: closeMatch http://identifiers.org/snomedct/128640002 property_value: exactMatch DOID:8634 property_value: exactMatch DOID:8634 property_value: exactMatch http://identifiers.org/snomedct/92691004 property_value: exactMatch http://identifiers.org/snomedct/92691004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154088 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154088 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D07.5 property_value: exactMatch NCIT:C3642 property_value: exactMatch NCIT:C3642 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma_in_situ.yaml [Term] id: EFO:1000284 name: Granular Cell Tumor def: "An unusual benign or malignant neoplasm characterized by the presence of neoplastic large polygonal cells with granular, eosinophilic cytoplasm which contains abundant lysosomes. It was originally thought to be a tumor originating from muscle cells and was named granular cell myoblastoma. Subsequent studies have suggested a derivation from Schwann cells. It affects females more often than males and it usually presents as a solitary mass. A minority of patients have multiple tumors. It can arise from many anatomic sites including the posterior pituitary gland, skin, oral cavity, esophagus, stomach, heart, mediastinum, and breast." [NCIT:C3474] comment: Editor note: MESH considers this a myoblastoma but we go with NCIT which states nerve sheath origin, consistent with GARD definition; also check ONCOTREE placement subset: gard_rare {source="GARD:0009618"} synonym: "Abrikosoff's granulous cell tumor" RELATED [GARD:0009618] synonym: "Abrikosoff's granulous cell tumour" RELATED OMO:0003005 [] synonym: "Abrikosoff's tumor" RELATED [GARD:0009618] synonym: "Abrikosoff's tumour" RELATED OMO:0003005 [] synonym: "Abrikosov's tumor" RELATED [GARD:0009618] synonym: "Abrikosov's tumour" RELATED OMO:0003005 [] synonym: "Abrikosov’s tumor" RELATED [GARD:0009618] synonym: "Abrikosov’s tumour" RELATED OMO:0003005 [] synonym: "Abrikossoff tumor" EXACT [NCIT:C3474] synonym: "Abrikossoff tumour" EXACT OMO:0003005 [] synonym: "Abrikossoff's tumor" EXACT [NCIT:C3474] synonym: "Abrikossoff's tumour" EXACT OMO:0003005 [] synonym: "GCT" RELATED ABBREVIATION [ONCOTREE:GCT] synonym: "giant granulocellular Abrikosov's tumor" RELATED [GARD:0009618] synonym: "giant granulocellular Abrikosov's tumour" RELATED OMO:0003005 [] synonym: "granular cell myoblastoma" EXACT [NCIT:C3474] synonym: "granular cell neoplasm" EXACT [NCIT:C3474] synonym: "granular cell nerve sheath tumor" EXACT [NCIT:C3474] synonym: "granular cell nerve sheath tumour" EXACT OMO:0003005 [] synonym: "granular cell schwannoma" EXACT [NCIT:C3474] synonym: "granular cell tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "granular cell tumor" EXACT [NCIT:C3474] synonym: "granular cell tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "granular cell tumor (morphologic abnormality)" EXACT [DOID:2411] synonym: "granular cell tumor NOS (morphologic abnormality)" NARROW [DOID:2411] synonym: "granular cell tumour (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "granular cell tumour NOS (morphologic abnormality)" NARROW OMO:0003005 [] synonym: "malignant variant of Abrikosov's tumor" RELATED [GARD:0009618] synonym: "malignant variant of Abrikosov's tumour" RELATED OMO:0003005 [] synonym: "neoplasm of granular cell" NARROW [DOID:2411, NCIT:C3474] xref: DOID:2411 {source="MONDO:equivalentTo"} xref: EFO:1000284 {source="MONDO:equivalentTo"} xref: GARD:0009618 {source="MONDO:equivalentTo"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9580/0 {source="NCIT:C3474"} xref: MESH:C535558 {source="MONDO:equivalentTo"} xref: MESH:D016586 {source="DOID:2411", source="MONDO:equivalentTo"} xref: MONDO:0006235 xref: NCIT:C3474 {source="EFO:1000284", source="DOID:2411", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C3474 {source="EFO:1000284", source="DOID:2411", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:GCT {source="MONDO:equivalentTo"} xref: SCTID:404035005 {source="DOID:2411", source="MONDO:equivalentTo"} xref: UMLS:C0085167 {source="DOID:2411", source="MONDO:equivalentTo", source="NCIT:C3474"} is_a: MONDO:0002547 {source="NCIT:C3474"} ! nerve sheath neoplasm property_value: closeMatch http://identifiers.org/snomedct/12169001 property_value: closeMatch http://identifiers.org/snomedct/189954007 property_value: exactMatch DOID:2411 property_value: exactMatch DOID:2411 property_value: exactMatch http://identifiers.org/mesh/C535558 property_value: exactMatch http://identifiers.org/mesh/C535558 property_value: exactMatch http://identifiers.org/mesh/D016586 property_value: exactMatch http://identifiers.org/mesh/D016586 property_value: exactMatch http://identifiers.org/snomedct/404035005 property_value: exactMatch http://identifiers.org/snomedct/404035005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085167 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085167 property_value: exactMatch NCIT:C3474 property_value: exactMatch NCIT:C3474 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9618/granular-cell-tumor xsd:anyURI {source="GARD:0009618"} [Term] id: EFO:1000285 name: Granular Cell Tumor of the Neurohypophysis def: "A generally benign intrasellar and/or suprasellar mass arising from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. It generally has a slow progression and lacks invasive growth. (Adapted from WHO)" [NCIT:C7017] synonym: "granular cell tumor of Neurohypophysis" EXACT [NCIT:C7017] synonym: "granular cell tumor of neurohypophysis" EXACT [] synonym: "granular cell tumor of the neurohypophysis" EXACT [MONDO:0006236, NCIT:C7017] synonym: "granular cell tumor of the Neurohypophysis (WHO grade I)" EXACT [NCIT:C7017] synonym: "granular cell tumor of the posterior pituitary gland" EXACT [NCIT:C7017] synonym: "granular cell tumour of Neurohypophysis" EXACT OMO:0003005 [] synonym: "granular cell tumour of neurohypophysis" EXACT OMO:0003005 [] synonym: "granular cell tumour of the neurohypophysis" EXACT OMO:0003005 [] synonym: "granular cell tumour of the Neurohypophysis (WHO grade I)" EXACT OMO:0003005 [] synonym: "granular cell tumour of the posterior pituitary gland" EXACT OMO:0003005 [] synonym: "neurohypophysis granular cell tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "neurohypophysis granular cell tumor" EXACT [MONDO:patterns/location] synonym: "neurohypophysis granular cell tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: DOID:5047 {source="MONDO:equivalentTo"} xref: EFO:1000285 {source="MONDO:equivalentTo"} xref: ICDO:9582/0 {source="NCIT:C7017"} xref: MONDO:0003256 xref: NCIT:C7017 {source="DOID:5047", source="EFO:1000285", source="MONDO:equivalentTo"} xref: SCTID:699331002 {source="DOID:5047", source="MONDO:equivalentTo"} xref: UMLS:C1333873 {source="DOID:5047", source="MONDO:equivalentTo", source="NCIT:C7017"} is_a: EFO:1000284 {source="DOID:5047", source="MONDO:Redundant", source="NCIT:C7017"} ! Granular Cell Tumor is_a: MONDO:0003257 {source="DOID:5047", source="MONDO:Redundant", source="NCIT:C7017"} ! posterior pituitary gland neoplasm property_value: exactMatch DOID:5047 property_value: exactMatch DOID:5047 property_value: exactMatch http://identifiers.org/snomedct/699331002 property_value: exactMatch http://identifiers.org/snomedct/699331002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333873 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333873 property_value: exactMatch NCIT:C7017 property_value: exactMatch NCIT:C7017 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:1000286 name: Granulocytic Sarcoma def: "A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001)" [NCIT:P378] synonym: "granulocytic sarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "granulocytic sarcoma" EXACT [NCIT:C35815] synonym: "granulocytic sarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "sarcoma, granulocytic, malignant" EXACT [NCIT:C35815] xref: EFO:1000286 {source="MONDO:equivalentTo"} xref: MONDO:0006237 xref: NCIT:C35815 {source="EFO:1000286", source="MONDO:equivalentTo"} is_a: EFO:1001052 {source="NCIT:C35815"} ! myeloid sarcoma property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152276 property_value: exactMatch NCIT:C35815 property_value: exactMatch NCIT:C35815 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql [Term] id: EFO:1000287 name: Growth Hormone-Producing Pituitary Gland Adenoma alt_id: MONDO:0005332 def: "An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly." [NCIT:C7461] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:96256"} synonym: "GH cell adenoma" EXACT [NCIT:C7461] synonym: "growth hormone producing adenoma of pituitary" EXACT [NCIT:C7461] synonym: "growth hormone producing adenoma of pituitary gland" EXACT [NCIT:C7461] synonym: "growth hormone producing adenoma of the pituitary" EXACT [DOID:6255, NCIT:C7461] synonym: "growth hormone producing adenoma of the pituitary gland" EXACT [NCIT:C7461] synonym: "growth hormone producing pituitary adenoma" EXACT [NCIT:C7461] synonym: "growth hormone producing pituitary gland adenoma" EXACT [NCIT:C7461] synonym: "growth hormone secreting adenoma of pituitary" EXACT [DOID:6255, NCIT:C7461] synonym: "growth hormone secreting adenoma of pituitary gland" EXACT [NCIT:C7461] synonym: "growth hormone secreting adenoma of the pituitary" EXACT [NCIT:C7461] synonym: "growth hormone secreting adenoma of the pituitary gland" EXACT [NCIT:C7461] synonym: "growth hormone secreting pituitary adenoma" EXACT [NCIT:C7461] synonym: "growth hormone secreting pituitary gland adenoma" EXACT [NCIT:C7461] synonym: "growth hormone-producing adenoma" EXACT [NCIT:C7461] synonym: "growth hormone-producing pituitary gland adenoma" EXACT [] {comment="preferred label from MONDO"} synonym: "growth hormone-producing pituitary gland adenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "growth hormone-producing pituitary gland adenoma" EXACT [NCIT:C7461] synonym: "somatotrope adenoma" EXACT [NCIT:C7461] synonym: "somatotroph adenoma" EXACT [DOID:6255, NCIT:C7461] synonym: "Somatotrophinoma" EXACT [NCIT:C7461] synonym: "somatotropic adenoma" RELATED [Orphanet:96256] xref: DOID:6255 {source="MONDO:equivalentTo"} xref: EFO:0004125 {source="MONDO:equivalentTo"} xref: EFO:1000287 {source="MONDO:equivalentTo"} xref: ICD10:D35.2 {source="MONDO:relatedTo", source="Orphanet:96256", source="ORDO:96256/nd"} xref: ICD10:E22.0 {source="Orphanet:96256", source="ORDO:96256/nd"} xref: ICD10CM:D35.2 {source="Orphanet:96256/nd", source="MONDO:relatedTo", source="Orphanet:96256"} xref: MONDO:0006238 xref: NCIT:C7461 {source="EFO:1000287", source="MONDO:equivalentTo"} xref: Orphanet:96256 {source="MONDO:equivalentTo"} xref: SCTID:254957009 {source="MONDO:equivalentTo"} is_a: EFO:1000478 {source="DOID:6255/inferred", source="MONDO:Redundant", source="NCIT:C7461", source="Orphanet:96256/inferred"} ! Pituitary Gland Adenoma is_a: MONDO:0019927 {source="MONDO:Redundant", source="NCIT:C7461"} ! growth hormone-producing pituitary gland neoplasm property_value: closeMatch http://identifiers.org/mesh/D049912 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0346302 property_value: exactMatch DOID:6255 property_value: exactMatch DOID:6255 property_value: exactMatch http://identifiers.org/snomedct/254957009 property_value: exactMatch http://identifiers.org/snomedct/254957009 property_value: exactMatch NCIT:C7461 property_value: exactMatch NCIT:C7461 property_value: exactMatch Orphanet:96256 property_value: exactMatch Orphanet:96256 [Term] id: EFO:1000288 name: Head and Neck Paraganglioma def: "A benign or malignant extra-adrenal paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas." [NCIT:C5327] synonym: "craniocervical region paraganglioma" EXACT [MONDO:patterns/location] synonym: "head and neck paraganglioma" EXACT [NCIT:C5327] synonym: "head and neck paraganglioma" EXACT [] {comment="preferred label from MONDO"} synonym: "paraganglioma of craniocervical region" EXACT [MONDO:design_pattern] synonym: "paraganglioma of head and neck" EXACT [NCIT:C5327] synonym: "paraganglioma of the head and neck" EXACT [NCIT:C5327] xref: MONDO:0006239 xref: NCIT:C5327 {source="MONDO:equivalentTo", source="EFO:1000288", source="MONDO:exact-label-match"} xref: NCIt:C5327 xref: UMLS:C1333944 {source="MONDO:equivalentTo", source="NCIT:C5327"} is_a: EFO:0005950 {source="EFO:1000288", source="MONDO:Redundant", source="NCIT:C5327"} ! head and neck neoplasia is_a: EFO:1000453 {source="MONDO:Redundant", source="NCIT:C5327/inferred"} ! Paraganglioma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333944 property_value: exactMatch NCIT:C5327 [Term] id: EFO:1000289 name: Hemangiopericytic Neoplasm def: "A term that refers to vascular neoplasms with a prominent hemangiopericytic growth pattern." [NCIT:P378] comment: Editor note: TODO check relationship to spindle cell tumor synonym: "hemangiopericytic neoplasm" EXACT [DOID:3850, MONDO:0006240] synonym: "hemangiopericytic tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "hemangiopericytic tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: DOID:3850 {source="MONDO:equivalentTo"} xref: EFO:1000289 {source="MONDO:equivalentTo"} xref: MONDO:0002789 xref: NCIT:C7076 {source="DOID:3850", source="EFO:1000289", source="MONDO:equivalentTo"} xref: UMLS:C0476144 {source="NCIT:C7076", source="DOID:3850", source="MONDO:equivalentTo"} is_a: EFO:0004264 ! vascular disease is_a: MONDO:0002604 {source="DOID:3850"} ! pericytic neoplasm property_value: closeMatch http://identifiers.org/snomedct/189866002 property_value: closeMatch http://identifiers.org/snomedct/189867006 property_value: exactMatch DOID:3850 property_value: exactMatch DOID:3850 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0476144 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0476144 property_value: exactMatch NCIT:C7076 property_value: exactMatch NCIT:C7076 [Term] id: EFO:1000290 name: obsolete_hemopoietic system property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.65" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "term generated in error. Use EFO_0000798 (hematopoietic system) instead." xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0002390 [Term] id: EFO:1000291 name: Hepatic Granuloma def: "A granuloma located in the liver." [NCIT:P378] comment: Editor note: check neoplasm classification synonym: "hepatic granuloma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "hepatic granuloma" EXACT [] {comment="preferred label from MONDO"} xref: EFO:1000291 {source="MONDO:equivalentTo"} xref: ICD9:572.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:572.8 {source="MONDO:relatedTo", source="i2s"} xref: MONDO:0006241 xref: SCTID:714253009 {source="MONDO:equivalentTo"} xref: UMLS:C0745754 {source="MONDO:equivalentTo"} is_a: MONDO:0024477 ! liver and intrahepatic bile duct neoplasm property_value: exactMatch http://identifiers.org/snomedct/714253009 property_value: exactMatch http://identifiers.org/snomedct/714253009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0745754 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0745754 property_value: exactMatch NCIT:C4936 [Term] id: EFO:1000292 name: Hepatoblastoma def: "Hepatoblastoma (HB) is a malignant hepatic tumor and is the most common pediatric liver cancer. It is characterized by anorexia, weight loss and an enlarged abdomen. HB is more common in patients with familial adenomatous polyposis (FAP), and can occur in patients with other pre-existing liver conditions. About 5% of HB cases are associated with genetic factors, especially overgrowth syndromes, such as Beckwith-Wiedemann syndrome (BWS) or hemihypertrophy." [Orphanet:449] subset: ordo_disease {source="Orphanet:449"} synonym: "HBL" EXACT ABBREVIATION [DOID:687, NCIT:C3728] synonym: "hepatoblastoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "hepatoblastoma" EXACT [NCIT:C3728] synonym: "hepatoblastoma" EXACT [] {comment="preferred label from MONDO"} synonym: "hepatoblastoma, malignant" EXACT [NCIT:C3728] synonym: "paediatric embryonal hepatoma" EXACT OMO:0003005 [] synonym: "paediatric hepatoblastoma" EXACT OMO:0003005 [] synonym: "pediatric embryonal hepatoma" EXACT [NCIT:C3728] synonym: "pediatric hepatoblastoma" EXACT [NCIT:C3728] xref: DOID:687 {source="MONDO:equivalentTo"} xref: EFO:1000292 {source="MONDO:equivalentTo"} xref: GARD:0002657 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10:C22.2 {source="DOID:687", source="ORDO:449/e", source="Orphanet:449"} xref: ICDO:8970/3 {source="NCIT:C3728"} xref: MedDRA:10062001 {source="ORDO:449/e", source="Orphanet:449"} xref: MedDRA:10062001 {source="Orphanet:449", source="Orphanet:449/e"} xref: MESH:D018197 {source="DOID:687", source="Orphanet:449", source="MONDO:equivalentTo", source="Orphanet:449/e"} xref: MESH:D018197 {source="DOID:687", source="ORDO:449/e", source="Orphanet:449", source="MONDO:equivalentTo"} xref: MONDO:0018666 xref: NCIT:C3728 {source="DOID:687", source="MONDO:equivalentTo", source="EFO:1000292"} xref: ONCOTREE:LIHB {source="MONDO:equivalentTo"} xref: Orphanet:449 {source="MONDO:equivalentTo"} xref: UMLS:C0206624 {source="DOID:687", source="NCIT:C3728", source="ORDO:449/e", source="Orphanet:449", source="MONDO:equivalentTo"} xref: UMLS:C0206624 {source="DOID:687", source="NCIT:C3728", source="Orphanet:449", source="MONDO:equivalentTo", source="Orphanet:449/e"} is_a: EFO:0000182 ! hepatocellular carcinoma is_a: EFO:0005784 {source="EFO:1000292", source="NCIT:C3728"} ! embryonal neoplasm property_value: closeMatch http://identifiers.org/meddra/10062001 property_value: closeMatch http://identifiers.org/snomedct/109843000 property_value: closeMatch http://identifiers.org/snomedct/45024009 property_value: exactMatch DOID:687 property_value: exactMatch DOID:687 property_value: exactMatch http://identifiers.org/meddra/10062001 property_value: exactMatch http://identifiers.org/mesh/D018197 property_value: exactMatch http://identifiers.org/mesh/D018197 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206624 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206624 property_value: exactMatch NCIT:C3728 property_value: exactMatch NCIT:C3728 property_value: exactMatch Orphanet:449 [Term] id: EFO:1000293 name: Hepatoid Adenocarcinoma def: "An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver." [NCIT:C66950] synonym: "hepatoid adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "hepatoid adenocarcinoma" EXACT [NCIT:C66950] synonym: "hepatoid adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "hepatoid carcinoma" EXACT [NCIT:C66950] xref: DOID:0060534 {source="MONDO:equivalentTo"} xref: EFO:1000293 {source="MONDO:equivalentTo"} xref: ICDO:8576/3 {source="NCIT:C66950"} xref: MONDO:0006243 xref: NCIT:C66950 {source="EFO:1000293", source="DOID:0060534", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C66950 {source="EFO:1000293", source="DOID:0060534", source="MONDO:equivalentTo", source="exact-label-match"} xref: UMLS:C1266090 {source="MONDO:equivalentTo", source="NCIT:C66950"} is_a: MONDO:0018532 ! adenocarcinoma of liver and intrahepatic biliary tract relationship: EFO:0000784 CL:0000182 ! has_disease_location hepatocyte property_value: exactMatch DOID:0060534 property_value: exactMatch DOID:0060534 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266090 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266090 property_value: exactMatch NCIT:C66950 property_value: exactMatch NCIT:C66950 [Term] id: EFO:1000294 name: HER2 Positive Breast Carcinoma def: "A biologic subset of breast carcinoma defined by high expression of HER2, GRB7, and TRAP100, and by lack of expression of estrogen receptor (ER)." [NCIT:C53556] synonym: "ERBB2 Overexpressing subtype of breast carcinoma" EXACT [NCIT:C53556] synonym: "HER2 Overexpressing breast carcinoma" EXACT [NCIT:C53556] synonym: "HER2 Overexpressing subtype of breast carcinoma" EXACT [NCIT:C53556] synonym: "HER2 Positive breast cancer" EXACT [NCIT:C53556] synonym: "HER2 positive breast carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "HER2 positive breast carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "HER2 positive breast carcinoma" EXACT [NCIT:C53556] synonym: "Her2-receptor positive breast cancer" EXACT [MONDO:0000617] xref: DOID:0060079 {source="MONDO:equivalentTo"} xref: EFO:1000294 {source="MONDO:equivalentTo"} xref: MONDO:0006244 xref: NCIT:C53556 {source="EFO:1000294", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C53556 {source="EFO:1000294", source="MONDO:equivalentTo", source="exact-label-match"} xref: SCTID:427685000 {source="MONDO:equivalentTo"} xref: UMLS:C1960398 {source="MONDO:equivalentTo", source="NCIT:C53556"} is_a: EFO:1000143 {source="NCIT:C53556"} ! Breast Carcinoma by Gene Expression Profile property_value: exactMatch DOID:0060079 property_value: exactMatch DOID:0060079 property_value: exactMatch http://identifiers.org/snomedct/427685000 property_value: exactMatch http://identifiers.org/snomedct/427685000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1960398 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1960398 property_value: exactMatch NCIT:C53556 property_value: exactMatch NCIT:C53556 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1000295 name: Hidradenocarcinoma def: "A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes." [NCIT:C54664] synonym: "clear cell eccrine carcinoma" EXACT [NCIT:C54664] synonym: "hidradenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "hidradenocarcinoma" EXACT [NCIT:C54664] synonym: "hidradenocarcinoma" EXACT [] {comment="preferred label from MONDO"} xref: EFO:1000295 {source="MONDO:equivalentTo"} xref: GARD:0010439 {source="MONDO:equivalentTo"} xref: ICDO:8402/3 {source="NCIT:C54664"} xref: MONDO:0006245 xref: NCIT:C54664 {source="EFO:1000295", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C54664 {source="EFO:1000295", source="MONDO:equivalentTo", source="exact-label-match"} is_a: EFO:0000348 {source="EFO:1000295", source="NCIT:C54664"} ! clear cell adenocarcinoma is_a: EFO:0005591 {source="EFO:1000295", source="NCIT:C54664"} ! sweat gland carcinoma property_value: exactMatch NCIT:C54664 property_value: exactMatch NCIT:C54664 [Term] id: EFO:1000296 name: High Grade Surface Osteosarcoma def: "A usually aggressive high grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone." [NCIT:C53958] synonym: "high grade surface osteosarcoma" EXACT [NCIT:C53958] synonym: "high grade surface osteosarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "high grade surface osteosarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "high-grade surface osteosarcoma" RELATED [ONCOTREE:HGSOS] xref: EFO:1000296 {source="MONDO:equivalentTo"} xref: ICDO:9194/3 {source="NCIT:C53958"} xref: MONDO:0006246 xref: NCIT:C53958 {source="EFO:1000296", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C53958 {source="EFO:1000296", source="MONDO:equivalentTo", source="exact-label-match"} xref: ONCOTREE:HGSOS {source="MONDO:equivalentTo"} xref: UMLS:C1266165 {source="NCIT:C53958", source="MONDO:equivalentTo"} is_a: MONDO:0002628 {source="NCIT:C53958"} ! peripheral osteosarcoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266165 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266165 property_value: exactMatch NCIT:C53958 property_value: exactMatch NCIT:C53958 [Term] id: EFO:1000297 name: Histiocytic and Dendritic Cell Neoplasm def: "Rare tumors that affect the hematopoietic and lymphoid tissues. The cells of origin are the histiocytes and accessory cells. They can occur at any age and show no significant variations in geographical distribution. This category includes the histiocytic sarcoma, Langerhans cell histiocytosis, Langerhans cell sarcoma, interdigitading dendritic cell sarcoma/tumor, follicular dendritic cell sarcoma/tumor, and dendritic cell sarcoma, not otherwise specified. (WHO, 2001)" [NCIT:C9294] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98287"} synonym: "histiocytic and dendritic cell" RELATED [DOID:5621] synonym: "histiocytic and dendritic cell cancer" RELATED [DOID:5621] synonym: "histiocytic and dendritic cell neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "histiocytic and dendritic cell neoplasm" EXACT [NCIT:C9294] synonym: "histiocytic and dendritic cell neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "histiocytic and Dendritic cell neoplasms" EXACT [NCIT:C9294] synonym: "histiocytic and dendritic cell tumor" RELATED [Orphanet:98287] synonym: "histiocytic and Dendritic cell tumors" EXACT [NCIT:C9294] synonym: "histiocytic and dendritic cell tumour" RELATED OMO:0003005 [] synonym: "histiocytic and Dendritic cell tumours" EXACT OMO:0003005 [] xref: DOID:5621 {source="MONDO:equivalentTo"} xref: EFO:1000297 {source="MONDO:equivalentTo"} xref: MONDO:0006247 xref: NCIT:C9294 {source="EFO:1000297", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C9294 {source="EFO:1000297", source="MONDO:equivalentTo", source="exact-label-match"} xref: Orphanet:98287 {source="MONDO:equivalentTo"} xref: UMLS:C1334030 {source="MONDO:equivalentTo", source="NCIT:C9294"} xref: UMLS:CN206982 {source="MONDO:equivalentTo"} is_a: EFO:0000540 ! immune system disease is_a: EFO:0010283 ! blood disease is_a: MONDO:0015757 {source="Orphanet:98287"} ! lymphoid hemopathy is_a: MONDO:0044881 {source="NCIT:C9294"} ! hematopoietic and lymphoid cell neoplasm is_a: Orphanet:322126 ! Genetic tumor of hematopoietic and lymphoid tissues relationship: EFO:0000784 UBERON:0001744 ! has_disease_location lymphoid tissue property_value: exactMatch DOID:5621 property_value: exactMatch DOID:5621 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334030 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334030 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206982 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206982 property_value: exactMatch NCIT:C9294 property_value: exactMatch NCIT:C9294 property_value: exactMatch Orphanet:98287 [Term] id: EFO:1000298 name: Hydatidiform Mole def: "A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes." [NCIT:C3110] subset: ordo_disease {source="Orphanet:99927"} synonym: "hydatid mole" EXACT [NCIT:C3110] synonym: "hydatidiform mole" EXACT [MONDO:0020551, NCIT:C3110] synonym: "hydatidiform mole" EXACT [] {comment="preferred label from MONDO"} synonym: "hydatidiform mole, recurrent" RELATED [OMIMPS:231090] synonym: "HYDM" RELATED ABBREVIATION [GARD:0010263] synonym: "molar pregnancy" EXACT [NCIT:C3110, Orphanet:99927] xref: ICD9:631 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9100/0 {source="NCIT:C3110"} xref: MedDRA:10020481 {source="Orphanet:99927/e", source="Orphanet:99927"} xref: MESH:D006828 {source="Orphanet:99927/e", source="MONDO:equivalentTo", source="Orphanet:99927"} xref: MONDO:0006248 xref: NCIT:C3110 {source="EFO:1000298", source="MONDO:equivalentTo"} xref: NCIt:C3110 xref: OMIM:231090 xref: OMIM:614293 xref: OMIM:618431 xref: OMIM:618432 xref: OMIMPS:231090 {source="MONDO:equivalentTo"} xref: ONCOTREE:MP {source="MONDO:equivalentTo"} xref: Orphanet:99927 {source="MONDO:equivalentTo"} xref: SCTID:44782008 {source="MONDO:equivalentTo"} xref: UMLS:C0020217 {source="Orphanet:99927/e", source="NCIT:C3110", source="MONDO:equivalentTo", source="Orphanet:99927"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0002872 {source="PMID:26421650"} ! trophoblastic neoplasm is_a: MONDO:0021218 ! placenta neoplasm property_value: closeMatch http://identifiers.org/meddra/10020481 property_value: exactMatch http://identifiers.org/mesh/D006828 property_value: exactMatch http://identifiers.org/snomedct/44782008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020217 property_value: exactMatch https://omim.org/phenotypicSeries/PS231090 property_value: exactMatch NCIT:C3110 property_value: exactMatch Orphanet:99927 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1611 xsd:anyURI property_value: IAO:0000233 https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/78 xsd:anyURI [Term] id: EFO:1000299 name: Hyperplastic Polyp def: "A polyp found mainly in the stomach and colon. Microscopically, it is characterized by elongated, serrated crypts lined by proliferative epithelium. Hyperplastic polyps are traditionally considered non-neoplastic, but ras mutation is common, clonality has been demonstrated and biochemical abnormalities and epidemiological associations that occur in colorectal adenomas and carcinomas have been found (WHO Tumors of the Digestive System, 2000)." [NCIT:C4083] synonym: "HP" EXACT ABBREVIATION [NCIT:C4083] synonym: "hyperplastic polyp" EXACT [] {comment="preferred label from MONDO"} synonym: "metaplastic polyp" EXACT [NCIT:C4083] synonym: "MP" EXACT ABBREVIATION [NCIT:C4083] xref: MedDRA:10073705 xref: MONDO:0006249 xref: NCIT:C4083 {source="MONDO:equivalentTo", source="EFO:1000299"} xref: NCIt:C4083 xref: UMLS:C0333983 {source="MONDO:equivalentTo", source="NCIT:C4083"} is_a: EFO:0000662 {source="EFO:1000299", source="NCIT:C4083/inferred"} ! polyp is_a: EFO:0010282 ! gastrointestinal disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0333983 property_value: exactMatch NCIT:C4083 [Term] id: EFO:1000300 name: Ileal Neuroendocrine Tumor G1 alt_id: MONDO:0021536 def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ileum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:C4935] synonym: "carcinoid tumor of ileum" EXACT [NCIT:C4935] synonym: "carcinoid tumor of the ileum" EXACT [NCIT:C4935] synonym: "carcinoid tumour of ileum" EXACT OMO:0003005 [] synonym: "carcinoid tumour of the ileum" EXACT OMO:0003005 [] synonym: "grade 1 neuroendocrine neoplasm of ileum" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "ileal carcinoid tumor" EXACT [NCIT:C4935] synonym: "ileal carcinoid tumour" EXACT OMO:0003005 [] synonym: "ileal NET G1" EXACT [NCIT:C4935] synonym: "ileal neuroendocrine tumor G1" EXACT [] {comment="preferred label from MONDO"} synonym: "ileal neuroendocrine tumor G1" EXACT [NCIT:C4935] synonym: "ileal neuroendocrine tumor G1" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "ileum carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "ileum carcinoid tumor (disease)" EXACT [MONDO:patterns/location] synonym: "ileum carcinoid tumour" EXACT OMO:0003005 [] synonym: "ileum carcinoid tumour (disease)" EXACT OMO:0003005 [] synonym: "ileum NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "ileum neuroendocrine neoplasm G1" EXACT [] synonym: "ileum neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] xref: EFO:1000300 {source="MONDO:equivalentTo"} xref: ICD9:209.03 {source="MONDO:equivalentTo", source="i2s"} xref: ICD9:209.03 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MONDO:0006250 xref: NCIT:C4935 {source="EFO:1000300", source="MONDO:equivalentTo"} xref: SCTID:425318003 {source="MONDO:equivalentTo"} xref: UMLS:C0745216 {source="MONDO:equivalentTo", source="NCIT:C4935"} is_a: EFO:1000188 ! Colon Neuroendocrine Tumor G1 is_a: MONDO:0000540 {source="MONDO:Redundant", source="NCIT:C4935"} ! small intestinal neuroendocrine tumor G1 is_a: MONDO:0015065 {source="MONDO:Redundant", source="NCIT:C4935"} ! ileal neuroendocrine tumor, well differentiated, low or intermediate grade property_value: exactMatch http://identifiers.org/snomedct/425318003 property_value: exactMatch http://identifiers.org/snomedct/425318003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0745216 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0745216 property_value: exactMatch NCIT:C4935 property_value: exactMatch NCIT:C4935 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/neuroendocrine_neoplasm_grade1.yaml [Term] id: EFO:1000301 name: Inclusion Body Fibromatosis def: "A rare benign neoplasm arising from the soft tissues of the digits, in young children. It is characterized by the presence of fibroblastic spindle cells, and intracytoplasmic eosinophilic spherical inclusions." [NCIT:C3456] synonym: "digital fibrous tumor of Reye" EXACT [NCIT:C3456] synonym: "inclusion body fibromatosis" EXACT [MONDO:ambiguous, NCIT:C3456] synonym: "inclusion body fibromatosis" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "inclusion body fibromatosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "infantile digital fibroma/fibromatosis" EXACT [NCIT:C3456] synonym: "infantile digital fibromatosis" EXACT [NCIT:C3456] synonym: "Reye tumor" EXACT [NCIT:C3456] synonym: "Reye's tumor" EXACT [NCIT:C3456] xref: EFO:1000301 {source="MONDO:equivalentTo"} xref: HP:0025197 {source="MONDO:otherHierarchy"} xref: NCIT:C3456 {source="MONDO:equivalentTo", source="EFO:1000301"} is_a: EFO:0000497 ! fibromatosis property_value: exactMatch NCIT:C3456 property_value: IAO:0000589 "inclusion body fibromatosis (disease)" xsd:string [Term] id: EFO:1000302 name: Infiltrating Bladder Lymphoepithelioma-Like Carcinoma synonym: "infiltrating bladder lymphoepithelioma-like carcinoma" EXACT [MONDO:0006252, NCIT:C39821] synonym: "infiltrating bladder lymphoepithelioma-like carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "infiltrating bladder lymphoepithelioma-like carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: DOID:7600 {source="MONDO:equivalentTo"} xref: EFO:1000302 {source="MONDO:equivalentTo"} xref: MONDO:0004299 xref: NCIT:C39821 {source="DOID:7600", source="MONDO:equivalentTo", source="EFO:1000302", source="exact-label-match"} xref: NCIT:C39821 {source="DOID:7600", source="MONDO:equivalentTo", source="EFO:1000302", source="MONDO:exact-label-match"} xref: UMLS:C1512736 {source="DOID:7600", source="MONDO:equivalentTo", source="NCIT:C39821"} is_a: MONDO:0003572 {source="NCIT:C39821"} ! nasopharyngeal type undifferentiated carcinoma is_a: MONDO:0003890 {source="DOID:7600", source="NCIT:C39821"} ! infiltrating bladder urothelial carcinoma property_value: exactMatch DOID:7600 property_value: exactMatch DOID:7600 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1512736 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1512736 property_value: exactMatch NCIT:C39821 property_value: exactMatch NCIT:C39821 [Term] id: EFO:1000303 name: Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant def: "An invasive transitional cell carcinoma of the bladder that exhibits spindle cell sarcomatoid features." [NCIT:C39824] synonym: "infiltrating bladder urothelial carcinoma sarcomatoid variant" EXACT [] {comment="preferred label from MONDO"} synonym: "infiltrating bladder urothelial carcinoma sarcomatoid variant" EXACT [MONDO:0006253, NCIT:C39824] synonym: "infiltrating bladder urothelial carcinoma sarcomatoid variant" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "infiltrating bladder urothelial carcinoma, sarcomatoid variant with heterologous elements" EXACT [DOID:7553] synonym: "infiltrating bladder urothelial carcinoma, sarcomatoid variant with heterologous elements" NARROW [DOID:7553] synonym: "infiltrating bladder urothelial carcinoma, sarcomatoid variant without heterologous elements" EXACT [DOID:7553] synonym: "infiltrating bladder urothelial carcinoma, sarcomatoid variant without heterologous elements" NARROW [DOID:7553] synonym: "sarcomatoid carcinoma of the urinary bladder" BROAD [ONCOTREE:SCB] xref: DOID:7553 {source="MONDO:equivalentTo"} xref: EFO:1000303 {source="MONDO:equivalentTo"} xref: MONDO:0004278 xref: NCIT:C39824 {source="MONDO:equivalentTo", source="EFO:1000303", source="DOID:7553"} xref: ONCOTREE:SCB {source="MONDO:equivalentTo"} xref: UMLS:C1512743 {source="MONDO:equivalentTo", source="NCIT:C39824", source="DOID:7553"} xref: UMLS:C1512744 {source="MONDO:equivalentTo"} xref: UMLS:C1512745 {source="MONDO:equivalentTo"} is_a: MONDO:0002837 {source="NCIT:C39824"} ! sarcomatoid transitional cell carcinoma is_a: MONDO:0003890 {source="DOID:7553", source="NCIT:C39824"} ! infiltrating bladder urothelial carcinoma property_value: exactMatch DOID:7553 property_value: exactMatch DOID:7553 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1512743 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1512743 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1512744 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1512744 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1512745 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1512745 property_value: exactMatch NCIT:C39824 property_value: exactMatch NCIT:C39824 [Term] id: EFO:1000304 name: Intestinal Type Adenocarcinoma def: "An adenocarcinoma arising from epithelium which has undergone intestinal metaplasia. Representative examples include gastric, gallbladder, and ampulla of Vater intestinal type adenocarcinomas." [NCIT:C4126] synonym: "intestinal type adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "intestinal type adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "intestinal type carcinoma" EXACT [NCIT:C4126] synonym: "intestinal-type adenocarcinoma" EXACT [NCIT:C4126] xref: EFO:1000304 {source="MONDO:equivalentTo"} xref: ICDO:8144/3 {source="NCIT:C4126"} xref: MONDO:0006254 xref: NCIT:C4126 {source="MONDO:equivalentTo", source="EFO:1000304", source="MONDO:exact-label-match"} xref: NCIT:C4126 {source="MONDO:equivalentTo", source="EFO:1000304", source="exact-label-match"} xref: UMLS:C0334279 {source="MONDO:equivalentTo", source="NCIT:C4126"} is_a: EFO:0000228 {source="EFO:1000304", source="NCIT:C4126"} ! adenocarcinoma is_a: EFO:0010282 ! gastrointestinal disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334279 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334279 property_value: exactMatch NCIT:C4126 property_value: exactMatch NCIT:C4126 [Term] id: EFO:1000305 name: Intimal Sarcoma def: "A malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor." [NCIT:C53677] synonym: "intimal sarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "intimal sarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "INTS" RELATED ABBREVIATION [ONCOTREE:INTS] xref: EFO:1000305 {source="MONDO:equivalentTo"} xref: MONDO:0006255 xref: NCIT:C53677 {source="MONDO:equivalentTo", source="EFO:1000305"} xref: ONCOTREE:INTS {source="MONDO:equivalentTo"} xref: UMLS:C1708550 {source="MONDO:equivalentTo", source="NCIT:C53677"} is_a: EFO:1001968 {source="NCIT:C53677"} ! soft tissue sarcoma is_a: MONDO:0002927 {source="NCIT:C53677"} ! spindle cell sarcoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1708550 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1708550 property_value: exactMatch NCIT:C53677 property_value: exactMatch NCIT:C53677 [Term] id: EFO:1000306 name: Intraductal Breast Papilloma def: "A benign papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by benign epithelial and myoepithelial proliferations. Intraductal breast papillomas are classified as central, when they arise in large ducts, or peripheral, when they arise in the terminal ductal lobular units." [] xref: NCIt:C3863 is_a: EFO:0003869 ! breast neoplasm [Term] id: EFO:1000307 name: Invasive Breast Carcinoma def: "A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women." [NCIT:C9245] synonym: "BRCA" RELATED ABBREVIATION [ONCOTREE:BRCA] synonym: "infiltrating breast cancer" EXACT [NCIT:C9245] synonym: "infiltrating breast carcinoma" EXACT [NCIT:C9245] synonym: "infiltrating carcinoma of breast" EXACT [NCIT:C9245] synonym: "infiltrating carcinoma of the breast" EXACT [NCIT:C9245] synonym: "invasive breast cancer" EXACT [NCIT:C9245] synonym: "invasive breast carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "invasive breast carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "invasive breast carcinoma" EXACT [NCIT:C9245] synonym: "invasive carcinoma of breast" EXACT [NCIT:C9245] synonym: "invasive carcinoma of the breast" EXACT [NCIT:C9245] synonym: "invasive mammary carcinoma" EXACT [NCIT:C9245] xref: EFO:1000307 {source="MONDO:equivalentTo"} xref: MONDO:0006256 xref: NCIT:C9245 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000307"} xref: NCIT:C9245 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000307"} xref: ONCOTREE:BRCA {source="MONDO:equivalentTo"} xref: SCTID:713609000 {source="MONDO:equivalentTo"} xref: UMLS:C0853879 {source="NCIT:C9245", source="MONDO:equivalentTo"} is_a: EFO:0000305 {source="EFO:1000307", source="MONDO:Redundant", source="NCIT:C9245"} ! breast carcinoma is_a: MONDO:0040677 ! invasive carcinoma property_value: exactMatch http://identifiers.org/snomedct/713609000 property_value: exactMatch http://identifiers.org/snomedct/713609000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0853879 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0853879 property_value: exactMatch NCIT:C9245 property_value: exactMatch NCIT:C9245 [Term] id: EFO:1000308 name: Jejunal Neuroendocrine Tumor G1 def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the jejunum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:C6429] synonym: "carcinoid tumor of jejunum" EXACT [NCIT:C6429] synonym: "carcinoid tumor of the jejunum" EXACT [NCIT:C6429] synonym: "carcinoid tumour of jejunum" EXACT OMO:0003005 [] synonym: "carcinoid tumour of the jejunum" EXACT OMO:0003005 [] synonym: "grade 1 neuroendocrine neoplasm of jejunum" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "jejunal carcinoid tumor" EXACT [NCIT:C6429] synonym: "jejunal carcinoid tumour" EXACT OMO:0003005 [] synonym: "jejunal NET G1" EXACT [NCIT:C6429] synonym: "jejunal neuroendocrine tumor G1" EXACT [] {comment="preferred label from MONDO"} synonym: "jejunal neuroendocrine tumor G1" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "jejunum carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "jejunum carcinoid tumor (disease)" EXACT [MONDO:patterns/location] synonym: "jejunum carcinoid tumour" EXACT OMO:0003005 [] synonym: "jejunum carcinoid tumour (disease)" EXACT OMO:0003005 [] synonym: "jejunum NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "jejunum neuroendocrine neoplasm G1" EXACT [] synonym: "jejunum neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] xref: EFO:1000308 {source="MONDO:equivalentTo"} xref: MONDO:0006257 xref: NCIT:C6429 {source="MONDO:equivalentTo", source="EFO:1000308"} xref: UMLS:C1334296 {source="MONDO:equivalentTo", source="NCIT:C6429"} is_a: EFO:1000188 ! Colon Neuroendocrine Tumor G1 is_a: MONDO:0000540 {source="MONDO:Redundant", source="NCIT:C6429"} ! small intestinal neuroendocrine tumor G1 is_a: MONDO:0015064 ! jejunal neuroendocrine tumor, well differentiated, low or intermediate grade property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334296 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334296 property_value: exactMatch NCIT:C6429 property_value: exactMatch NCIT:C6429 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/neuroendocrine_neoplasm_grade1.yaml [Term] id: EFO:1000309 name: Juvenile Myelomonocytic Leukemia def: "A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)" [NCIT:C9233] subset: ordo_disease {source="Orphanet:86834"} synonym: "chronic myelomonocytic leukaemia" BROAD OMO:0003005 [] synonym: "chronic myelomonocytic leukemia" BROAD [NCIT:C9233] synonym: "chronic myelomonocytic leukemia" EXACT [NCIT:C9233] synonym: "JCML" EXACT ABBREVIATION [NCIT:C9233] synonym: "JMML" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C9233, OMIM:607785, Orphanet:86834] synonym: "juvenile chronic myelogenous leukaemia" EXACT OMO:0003005 [] synonym: "juvenile chronic myelogenous leukemia" EXACT [NCIT:C9233] synonym: "juvenile chronic myeloid leukaemia" EXACT OMO:0003005 [] synonym: "juvenile chronic myeloid leukemia" EXACT [NCIT:C9233] synonym: "juvenile chronic myelomonocytic leukaemia" EXACT OMO:0003005 [] synonym: "juvenile chronic myelomonocytic leukemia" EXACT [Orphanet:86834] synonym: "juvenile myelomonocytic leukemia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "juvenile myelomonocytic leukemia" EXACT [] {comment="preferred label from MONDO"} synonym: "juvenile myelomonocytic leukemia" EXACT [MONDO:Lexical, NCIT:C9233, OMIM:607785] synonym: "juvenile myelomonocytic leukemia, autosomal dominant, somatic mutation" EXACT [OMIM:607785, OMIM:genemap2] synonym: "leukemia, chronic myelomonocytic" RELATED [OMIM:607785] synonym: "leukemia, juvenile myelomonocytic" RELATED [OMIM:607785] synonym: "leukemia, juvenile myelomonocytic, autosomal dominant, somatic mutation" EXACT [OMIM:607785, OMIM:genemap2] synonym: "leukemia, juvenile myelomonocytic, somatic" EXACT [OMIM:607785, OMIM:genemap2] xref: DOID:0050458 {source="MONDO:equivalentTo"} xref: EFO:1000309 {source="MONDO:equivalentTo"} xref: GARD:0009884 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: ICD10:C93.3 {source="ORDO:86834/e", source="DOID:0050458", source="Orphanet:86834"} xref: ICD10:C93.30 {source="DOID:0050458"} xref: ICDO:9946/3 {source="NCIT:C9233"} xref: MedDRA:10023249 {source="ORDO:86834/e", source="Orphanet:86834"} xref: MedDRA:10023249 {source="Orphanet:86834", source="Orphanet:86834/e"} xref: MESH:D054429 {source="DOID:0050458", source="MONDO:equivalentTo", source="Orphanet:86834", source="Orphanet:86834/e"} xref: MESH:D054429 {source="ORDO:86834/e", source="DOID:0050458", source="MONDO:equivalentTo", source="Orphanet:86834"} xref: MONDO:0011908 xref: NCIT:C9233 {source="EFO:1000309", source="DOID:0050458", source="MONDO:equivalentTo"} xref: OMIM:607785 {source="EFO:1000309", source="ORDO:86834/e", source="DOID:0050458", source="MONDO:equivalentTo", source="Orphanet:86834"} xref: OMIM:607785 {source="EFO:1000309", source="DOID:0050458", source="MONDO:equivalentTo", source="Orphanet:86834", source="Orphanet:86834/e"} xref: ONCOTREE:JMML {source="MONDO:equivalentTo"} xref: Orphanet:86834 {source="MONDO:equivalentTo", source="OMIM:607785"} xref: SCTID:445227008 {source="DOID:0050458", source="MONDO:equivalentTo"} xref: UMLS:C0349639 {source="NCIT:C9233", source="DOID:0050458", source="MONDO:equivalentTo", source="Orphanet:86834", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:86834/e", source="OMIM:607785"} xref: UMLS:C0349639 {source="NCIT:C9233", source="NCBI:mim2gene_medline", source="ORDO:86834/e", source="DOID:0050458", source="MONDO:equivalentTo", source="Orphanet:86834", source="OMIM:607785"} is_a: EFO:1001779 ! chronic myelomonocytic leukemia relationship: EFO:0000784 CL:0000763 ! has_disease_location myeloid cell property_value: closeMatch http://identifiers.org/meddra/10023249 property_value: closeMatch http://identifiers.org/snomedct/128832006 property_value: closeMatch http://identifiers.org/snomedct/277587001 property_value: exactMatch DOID:0050458 property_value: exactMatch DOID:0050458 property_value: exactMatch http://identifiers.org/meddra/10023249 property_value: exactMatch http://identifiers.org/mesh/D054429 property_value: exactMatch http://identifiers.org/mesh/D054429 property_value: exactMatch http://identifiers.org/omim/607785 property_value: exactMatch http://identifiers.org/snomedct/445227008 property_value: exactMatch http://identifiers.org/snomedct/445227008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349639 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349639 property_value: exactMatch https://omim.org/entry/607785 property_value: exactMatch NCIT:C9233 property_value: exactMatch NCIT:C9233 property_value: exactMatch Orphanet:86834 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: EFO:1000310 name: Juvenile Polyp def: "A non-neoplastic hamartomatous polyp that arises from the stomach and intestinal tract. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." [NCIT:C3826] synonym: "juvenile polyp" EXACT [NCIT:C3826] synonym: "juvenile polyp" EXACT [] {comment="preferred label from MONDO"} synonym: "retention polyp" EXACT [NCIT:C3826] xref: MONDO:0006258 xref: NCIT:C3826 {source="MONDO:equivalentTo", source="EFO:1000310", source="MONDO:exact-label-match"} xref: NCIt:C3826 xref: UMLS:C0221273 {source="NCIT:C3826", source="MONDO:equivalentTo"} is_a: EFO:1000280 {source="NCIT:C3826"} ! Gastrointestinal Hamartoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221273 property_value: exactMatch NCIT:C3826 [Term] id: EFO:1000311 name: Juvenile Xanthogranuloma def: "A benign histiocytic tumor that occurs during childhood; it is distinct from Langerhans cell histiocytosis. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells in the dermis. The lesions usually develop during infancy. They consist of cutaneous papules and nodules (most often in the head and neck). It is sometimes associated with deep soft tissues nodules." [NCIT:C3451] subset: ordo_disease {source="Orphanet:158000"} synonym: "juvenile xanthogranuloma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "juvenile xanthogranuloma" EXACT [MONDO:0006259] synonym: "juvenile xanthogranuloma" EXACT [] {comment="preferred label from MONDO"} synonym: "JXG" EXACT ABBREVIATION [NCIT:C3451] synonym: "multiple eruptive juvenile xanthogranuloma" EXACT [DOID:4424] synonym: "Naevoxanthoendothelioma" EXACT [DOID:4424] synonym: "xanthoma neviforme" EXACT [DOID:4424] xref: DOID:4424 {source="MONDO:equivalentTo"} xref: EFO:1000311 {source="MONDO:equivalentTo"} xref: ICD10:D76.3 {source="ORDO:158000/ntbt", source="Orphanet:158000"} xref: MESH:D014972 {source="DOID:4424", source="MONDO:equivalentTo", source="ORDO:158000/e", source="Orphanet:158000"} xref: MESH:D014972 {source="DOID:4424", source="Orphanet:158000/e", source="MONDO:equivalentTo", source="Orphanet:158000"} xref: MONDO:0015534 xref: NCIT:C3451 {source="DOID:4424", source="EFO:1000311", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C3451 {source="DOID:4424", source="EFO:1000311", source="MONDO:equivalentTo", source="exact-label-match"} xref: Orphanet:158000 {source="MONDO:equivalentTo"} xref: SCTID:400204000 {source="DOID:4424", source="MONDO:equivalentTo"} xref: UMLS:C0043324 {source="DOID:4424", source="NCIT:C3451", source="Orphanet:158000/e", source="MONDO:equivalentTo", source="Orphanet:158000"} xref: UMLS:C0043324 {source="DOID:4424", source="NCIT:C3451", source="MONDO:equivalentTo", source="ORDO:158000/e", source="Orphanet:158000"} is_a: MONDO:0015531 {source="DOID:4424", source="MESH:D014972", source="Orphanet:158000"} ! non-Langerhans cell histiocytosis property_value: closeMatch http://identifiers.org/snomedct/189098009 property_value: closeMatch http://identifiers.org/snomedct/400031009 property_value: closeMatch http://identifiers.org/snomedct/71709009 property_value: exactMatch DOID:4424 property_value: exactMatch DOID:4424 property_value: exactMatch http://identifiers.org/mesh/D014972 property_value: exactMatch http://identifiers.org/mesh/D014972 property_value: exactMatch http://identifiers.org/snomedct/400204000 property_value: exactMatch http://identifiers.org/snomedct/400204000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043324 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043324 property_value: exactMatch NCIT:C3451 property_value: exactMatch NCIT:C3451 property_value: exactMatch Orphanet:158000 [Term] id: EFO:1000312 name: Kidney Angiomyolipoma def: "An angiomyolipoma arising from the kidney." [] xref: MedDRA:10077284 xref: NCIt:C3888 is_a: EFO:0003865 ! kidney neoplasm [Term] id: EFO:1000313 name: Kidney Cyst def: "Abnormal fluid filled sac within the kidney, either acquired or congenital." [] xref: NCIt:C3970 is_a: EFO:0003865 ! kidney neoplasm [Term] id: EFO:1000314 name: Kidney Medullary Carcinoma alt_id: MONDO:0017888 def: "A type of renal carcinoma affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis." [NCIT:C7572] subset: ordo_disease {source="Orphanet:319319"} synonym: "carcinoma of renal medulla" EXACT [MONDO:patterns/carcinoma] synonym: "kidney medullary carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "kidney medullary carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "kidney medullary carcinoma" EXACT [NCIT:C7572] synonym: "renal medulla carcinoma" EXACT [] synonym: "renal medullary carcinoma" EXACT [NCIT:C7572] xref: EFO:1000314 {source="MONDO:equivalentTo"} xref: GARD:0013175 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10:C64 {source="Orphanet:319319", source="ORDO:319319/ntbt"} xref: MedDRA:10064886 {source="ORDO:319319/e", source="Orphanet:319319"} xref: MedDRA:10064886 {source="Orphanet:319319", source="Orphanet:319319/e"} xref: MONDO:0006260 xref: NCIT:C7572 {source="MONDO:equivalentTo", source="EFO:1000314"} xref: ONCOTREE:MRC {source="MONDO:equivalentTo"} xref: Orphanet:319319 {source="MONDO:equivalentTo"} xref: UMLS:CN203938 {source="MONDO:equivalentTo"} is_a: EFO:0000681 {source="ONCOTREE:MRC/inferred", source="Orphanet:319319"} ! renal cell carcinoma property_value: closeMatch http://identifiers.org/meddra/10064886 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4049328 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/CL448379 property_value: exactMatch http://identifiers.org/meddra/10064886 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203938 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203938 property_value: exactMatch NCIT:C7572 property_value: exactMatch NCIT:C7572 property_value: exactMatch Orphanet:319319 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:1000315 name: Kidney Oncocytoma def: "A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions." [] xref: NCIt:C4526 is_a: EFO:0003865 ! kidney neoplasm [Term] id: EFO:1000316 name: Krukenberg Tumor alt_id: MONDO:0006261 def: "Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast." [NCIT:C3153] synonym: "Krukenberg carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "Krukenberg carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "Krukenberg neoplasm" EXACT [DOID:9597, NCIT:C3153] synonym: "Krukenberg tumor" EXACT [DOID:9597, NCIT:C3153] synonym: "Krukenberg tumour" EXACT OMO:0003005 [] synonym: "Krukenberg’s tumor" RELATED [GARD:0008627] synonym: "Krukenberg’s tumour" RELATED OMO:0003005 [] xref: DOID:9597 {source="MONDO:equivalentTo"} xref: EFO:1000316 {source="MONDO:equivalentTo"} xref: GARD:0008627 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: MESH:D007725 {source="MONDO:equivalentTo", source="DOID:9597"} xref: MONDO:0004829 xref: NCIT:C3153 {source="MONDO:equivalentTo", source="DOID:9597", source="EFO:1000316"} xref: SCTID:359987004 {source="MONDO:equivalentTo", source="DOID:9597"} xref: UMLS:C0022790 {source="NCIT:C3153", source="MONDO:equivalentTo", source="DOID:9597"} is_a: EFO:0000698 {source="EFO:1000316", source="MESH:D007725", source="NCIT:C3153/inferred", source="NCIT:C66717"} ! signet ring cell carcinoma is_a: EFO:0006460 ! ovarian adenocarcinoma is_a: MONDO:0024879 ! metastatic carcinoma relationship: disease_arises_from_feature EFO:0000698 ! signet ring cell carcinoma property_value: closeMatch http://identifiers.org/snomedct/4305004 property_value: closeMatch http://identifiers.org/snomedct/94455000 property_value: exactMatch DOID:9597 property_value: exactMatch DOID:9597 property_value: exactMatch http://identifiers.org/mesh/D007725 property_value: exactMatch http://identifiers.org/mesh/D007725 property_value: exactMatch http://identifiers.org/snomedct/359987004 property_value: exactMatch http://identifiers.org/snomedct/359987004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022790 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022790 property_value: exactMatch NCIT:C3153 property_value: exactMatch NCIT:C3153 [Term] id: EFO:1000317 name: Lacrimal Gland Adenoid Cystic Carcinoma def: "A adenoid cystic carcinoma that involves the lacrimal gland." [MONDO:patterns/location] synonym: "adenoid cystic carcinoma of lacrimal gland" EXACT [DOID:4870, NCIT:C4540] synonym: "adenoid cystic carcinoma of the lacrimal gland" EXACT [NCIT:C4540] synonym: "lacrimal gland adenoid cystic carcinoma" EXACT [MONDO:patterns/location, NCIT:C4540] synonym: "lacrimal gland adenoid cystic carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "lacrimal gland adenoid cystic carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: DOID:4870 {source="MONDO:equivalentTo"} xref: EFO:1000317 {source="MONDO:equivalentTo"} xref: MONDO:0006262 xref: NCIT:C4540 {source="DOID:4870", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000317"} xref: NCIT:C4540 {source="DOID:4870", source="MONDO:equivalentTo", source="EFO:1000317", source="exact-label-match"} xref: SCTID:254987003 {source="DOID:4870", source="MONDO:equivalentTo"} xref: UMLS:C0346340 {source="DOID:4870", source="NCIT:C4540", source="MONDO:equivalentTo"} is_a: EFO:0000231 {source="EFO:1000317", source="MONDO:Redundant", source="NCIT:C4540"} ! adenoid cystic carcinoma is_a: MONDO:0002475 {source="DOID:4870", source="MONDO:Redundant"} ! lacrimal gland adenocarcinoma property_value: exactMatch DOID:4870 property_value: exactMatch DOID:4870 property_value: exactMatch http://identifiers.org/snomedct/254987003 property_value: exactMatch http://identifiers.org/snomedct/254987003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346340 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346340 property_value: exactMatch NCIT:C4540 property_value: exactMatch NCIT:C4540 [Term] id: EFO:1000318 name: Langerhans Cell Histiocytosis def: "Langerhans cell histiocytosis (LCH) is a systemic disease associated with the proliferation and accumulation (usually in granulomas) of Langerhans cells in various tissues." [Orphanet:389] comment: We follow NCIT in classifying this as a neoplasm but this may be revisited subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:389"} synonym: "histiocytosis X" EXACT [DOID:2571, NCIT:C3107, Orphanet:389] synonym: "Langerhan's cell histiocytosis" EXACT [DOID:2571] synonym: "Langerhans cell granulomatosis" EXACT [DOID:2571, NCIT:C3107, Orphanet:389] synonym: "Langerhans cell granulomatosis" EXACT [CSP2005:0427-5330, DOID:2571, NCIT:C3107, Orphanet:389] synonym: "Langerhans cell histiocytosis" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "Langerhans cell histiocytosis" EXACT [MONDO:0006263, NCIT:C3107, OMIM:604856] synonym: "Langerhans cell histiocytosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Langerhans cell histiocytosis, NOS" EXACT [NCIT:C3107] synonym: "Langerhans cell histiocytosis, Not otherwise specified" EXACT [NCIT:C3107] synonym: "Langerhans-cell histiocytosis" RELATED [DOID:2571] synonym: "LCH" EXACT ABBREVIATION [NCIT:C3107] synonym: "Lch" RELATED [OMIM:604856] synonym: "letterer-Siwe disease involving intra-abdominal lymph nodes" EXACT [DOID:2571] synonym: "letterer-Siwe disease involving intrapelvic lymph nodes" EXACT [DOID:2571] synonym: "letterer-Siwe disease involving intrathoracic lymph nodes" EXACT [DOID:2571] synonym: "letterer-Siwe disease involving lymph nodes of axilla and upper limb" EXACT [DOID:2571] synonym: "letterer-Siwe disease involving lymph nodes of head, face and neck" EXACT [DOID:2571] synonym: "letterer-Siwe disease involving lymph nodes of head, face, and neck" EXACT [DOID:2571] synonym: "letterer-Siwe disease involving lymph nodes of inguinal region and lower limb" EXACT [DOID:2571] synonym: "letterer-Siwe disease involving lymph nodes of multiple sites" EXACT [DOID:2571] synonym: "letterer-Siwe disease involving spleen" EXACT [DOID:2571] synonym: "letterer-Siwe disease of intra-abdominal lymph nodes" EXACT [DOID:2571] synonym: "letterer-Siwe disease of intrapelvic lymph nodes" EXACT [DOID:2571] synonym: "letterer-Siwe disease of intrathoracic lymph nodes" EXACT [DOID:2571] synonym: "letterer-Siwe disease of lymph nodes of axilla and upper limb" EXACT [DOID:2571] synonym: "letterer-Siwe disease of lymph nodes of axilla and/or upper limb" EXACT [DOID:2571] synonym: "letterer-Siwe disease of lymph nodes of head, face and neck" EXACT [DOID:2571] synonym: "letterer-Siwe disease of lymph nodes of head, face and/or neck" EXACT [DOID:2571] synonym: "letterer-Siwe disease of lymph nodes of inguinal region amd/or lower limb" EXACT [DOID:2571] synonym: "letterer-Siwe disease of lymph nodes of inguinal region and lower limb" EXACT [DOID:2571] synonym: "letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb" EXACT [DOID:2571] synonym: "letterer-Siwe disease of lymph nodes of multiple sites" EXACT [DOID:2571] synonym: "letterer-Siwe disease of spleen" EXACT [DOID:2571] xref: COHD:4278365 {source="MONDO:equivalentTo"} xref: DOID:2571 {source="MONDO:equivalentTo"} xref: EFO:1000318 {source="MONDO:equivalentTo"} xref: GARD:0006858 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: ICD10:C96.0 {source="DOID:2571", source="Orphanet:389", source="ORDO:389/btnt"} xref: ICD10:C96.5 {source="DOID:2571", source="Orphanet:389", source="ORDO:389/btnt"} xref: ICD10:C96.6 {source="DOID:2571", source="Orphanet:389", source="ORDO:389/btnt"} xref: ICD9:202.5 {source="DOID:2571"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9751/1 {source="NCIT:C3107"} xref: ICDO:9751/3 {source="NCIT:C3107"} xref: ICDO:9752/1 {source="NCIT:C3107"} xref: ICDO:9753/1 {source="NCIT:C3107"} xref: ICDO:9754/3 {source="NCIT:C3107"} xref: MedDRA:10069698 {source="Orphanet:389", source="ORDO:389/e"} xref: MedDRA:10069698 {source="Orphanet:389", source="Orphanet:389/e"} xref: MONDO:0018310 xref: NCIT:C3107 {source="DOID:2571", source="MONDO:equivalentTo", source="EFO:1000318"} xref: OMIM:604856 {source="DOID:2571", source="Orphanet:389", source="MONDO:equivalentTo", source="MONDO:superClassOf", source="ORDO:389/e"} xref: OMIM:604856 {source="DOID:2571", source="Orphanet:389", source="MONDO:equivalentTo", source="Orphanet:389/e"} xref: ONCOTREE:LCH {source="MONDO:equivalentTo"} xref: Orphanet:389 {source="MONDO:subClassOf", source="MONDO:equivalentTo", source="OMIM:604856"} xref: Orphanet:389 {source="MONDO:equivalentTo", source="OMIM:604856"} xref: SCTID:65399007 {source="DOID:2571", source="MONDO:equivalentTo"} xref: UMLS:C0019621 {source="DOID:2571", source="Orphanet:389", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:604856", source="Orphanet:389/e", source="NCIT:C3107"} xref: UMLS:C0019621 {source="DOID:2571", source="Orphanet:389", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604856", source="NCIT:C3107", source="ORDO:389/e"} xref: UMLS:C0432547 {source="MONDO:equivalentTo"} xref: UMLS:C0432548 {source="MONDO:equivalentTo"} xref: UMLS:C0432549 {source="MONDO:equivalentTo"} xref: UMLS:C0432550 {source="MONDO:equivalentTo"} xref: UMLS:C0432551 {source="MONDO:equivalentTo"} xref: UMLS:C0432552 {source="MONDO:equivalentTo"} xref: UMLS:C0432553 {source="MONDO:equivalentTo"} xref: UMLS:C0432554 {source="MONDO:equivalentTo"} is_a: EFO:0007352 ! lymphatic system disease is_a: MONDO:0004805 ! leukocyte disorder is_a: MONDO:0020082 {source="Orphanet:389"} ! dendritic cell tumor relationship: EFO:0000784 CL:0000453 ! has_disease_location Langerhans cell property_value: closeMatch http://identifiers.org/meddra/10069698 property_value: closeMatch http://identifiers.org/snomedct/110450007 property_value: closeMatch http://identifiers.org/snomedct/118614007 property_value: closeMatch http://identifiers.org/snomedct/128809007 property_value: closeMatch http://identifiers.org/snomedct/128811003 property_value: closeMatch http://identifiers.org/snomedct/128812005 property_value: closeMatch http://identifiers.org/snomedct/154583006 property_value: closeMatch http://identifiers.org/snomedct/154773005 property_value: closeMatch http://identifiers.org/snomedct/188654004 property_value: closeMatch http://identifiers.org/snomedct/188655003 property_value: closeMatch http://identifiers.org/snomedct/188659009 property_value: closeMatch http://identifiers.org/snomedct/190955000 property_value: closeMatch http://identifiers.org/snomedct/190956004 property_value: closeMatch http://identifiers.org/snomedct/190960001 property_value: closeMatch http://identifiers.org/snomedct/234439008 property_value: closeMatch http://identifiers.org/snomedct/236957004 property_value: closeMatch http://identifiers.org/snomedct/267510005 property_value: closeMatch http://identifiers.org/snomedct/269628007 property_value: closeMatch http://identifiers.org/snomedct/366059005 property_value: closeMatch http://identifiers.org/snomedct/67574008 property_value: exactMatch DOID:2571 property_value: exactMatch DOID:2571 property_value: exactMatch http://identifiers.org/meddra/10069698 property_value: exactMatch http://identifiers.org/mesh/D006646 property_value: exactMatch http://identifiers.org/omim/604856 property_value: exactMatch http://identifiers.org/snomedct/65399007 property_value: exactMatch http://identifiers.org/snomedct/65399007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019621 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019621 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432547 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432547 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432548 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432548 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432549 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432549 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432550 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432550 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432551 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432551 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432552 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432552 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432553 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432553 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432554 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432554 property_value: exactMatch https://omim.org/entry/604856 property_value: exactMatch NCIT:C3107 property_value: exactMatch NCIT:C3107 property_value: exactMatch Orphanet:389 property_value: excluded_subClassOf MONDO:0002332 {source="DOID:2571"} [Term] id: EFO:1000319 name: Laryngeal Adenoid Cystic Carcinoma def: "A rare adenoid cystic carcinoma of the larynx. It usually arises from the supraglottic or subglottic area. It is characterized by slow progression and late distant metastases." [NCIT:C9462] synonym: "adenoid cystic carcinoma of larynx" EXACT [DOID:4869, NCIT:C9462] synonym: "adenoid cystic carcinoma of the larynx" EXACT [NCIT:C9462] synonym: "laryngeal adenoid cystic carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "laryngeal adenoid cystic carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "laryngeal adenoid cystic carcinoma" EXACT [NCIT:C9462] synonym: "laryngeal throat adenoid cystic cancer" EXACT [NCIT:C9462] xref: DOID:4869 {source="MONDO:equivalentTo"} xref: EFO:1000319 {source="MONDO:equivalentTo"} xref: MONDO:0006264 xref: NCIT:C9462 {source="MONDO:equivalentTo", source="DOID:4869", source="exact-label-match", source="EFO:1000319"} xref: NCIT:C9462 {source="MONDO:equivalentTo", source="DOID:4869", source="MONDO:exact-label-match", source="EFO:1000319"} xref: UMLS:C1334368 {source="MONDO:equivalentTo", source="DOID:4869", source="NCIT:C9462"} is_a: EFO:0000231 {source="EFO:1000319", source="MONDO:Redundant", source="NCIT:C9462"} ! adenoid cystic carcinoma is_a: MONDO:0002358 {source="DOID:4869", source="MONDO:Redundant", source="NCIT:C9462"} ! laryngeal carcinoma property_value: exactMatch DOID:4869 property_value: exactMatch DOID:4869 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334368 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334368 property_value: exactMatch NCIT:C9462 property_value: exactMatch NCIT:C9462 [Term] id: EFO:1000320 name: Laryngeal Small Cell Carcinoma def: "A rare carcinoma that arises from the larynx. It is characterized by the presence of small neuroendocrine cells. It metastasizes early and has an aggressive clinical course." [NCIT:C6025] synonym: "laryngeal small cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "laryngeal small cell carcinoma" EXACT [NCIT:C6025] synonym: "laryngeal small cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "laryngeal throat small cell cancer" EXACT [NCIT:C6025] synonym: "larynx small cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C6025] synonym: "small cell carcinoma of larynx" EXACT [DOID:7144, NCIT:C6025] synonym: "small cell carcinoma of the larynx" EXACT [NCIT:C6025] xref: DOID:7144 {source="MONDO:equivalentTo"} xref: EFO:1000320 {source="MONDO:equivalentTo"} xref: MONDO:0006265 xref: NCIT:C6025 {source="EFO:1000320", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7144"} xref: NCIT:C6025 {source="EFO:1000320", source="MONDO:equivalentTo", source="DOID:7144", source="exact-label-match"} xref: UMLS:C1334378 {source="NCIT:C6025", source="MONDO:equivalentTo", source="DOID:7144"} is_a: EFO:0008524 {source="DOID:7144", source="MONDO:Redundant", source="NCIT:C6025"} ! small cell carcinoma is_a: MONDO:0002038 {source="MONDO:Redundant", source="NCIT:C6025/inferred"} ! head and neck carcinoma is_a: MONDO:0002358 {source="DOID:7144", source="MONDO:Redundant", source="NCIT:C6025"} ! laryngeal carcinoma is_a: MONDO:0015070 {source="MONDO:Redundant", source="NCIT:C6025"} ! laryngeal neuroendocrine neoplasm property_value: exactMatch DOID:7144 property_value: exactMatch DOID:7144 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334378 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334378 property_value: exactMatch NCIT:C6025 property_value: exactMatch NCIT:C6025 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/small_cell_carcinoma.yaml [Term] id: EFO:1000321 name: Leydig Cell Tumor def: "A sex cord-stromal tumor occurring in the testis and rarely in the ovary. It is predominantly or completely composed of Leydig cells which may contain crystals of Reinke. In males it usually presents as a painless testicular enlargement and it may be associated with gynecomastia and decreased libido. The majority of the cases have a benign clinical course. Approximately 10% of the cases have a malignant clinical course and metastasize. In females it may be associated with androgenic manifestations and it follows a benign clinical course." [NCIT:C3188] comment: Editor notes: Adding an axiom to this to localize to leydig cell entails equivalence with testicular leydig cell tumor synonym: "interstitial cell neoplasm" EXACT [NCIT:C3188] synonym: "interstitial cell tumor" EXACT [NCIT:C3188] synonym: "interstitial cell tumour" EXACT OMO:0003005 [] synonym: "Leydig cell neoplasm" EXACT [DOID:2696, NCIT:C3188] synonym: "Leydig cell tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "Leydig cell tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "Leydig cell tumor" EXACT [NCIT:C3188] synonym: "Leydig cell tumor, undetermined" RELATED [NCIT:C3188] xref: DOID:2696 {source="MONDO:equivalentTo"} xref: EFO:1000321 {source="MONDO:equivalentTo"} xref: ICDO:8650/1 {source="NCIT:C3188"} xref: MESH:D007984 {source="DOID:2696", source="MONDO:equivalentTo"} xref: MONDO:0006266 xref: NCIT:C3188 {source="DOID:2696", source="MONDO:equivalentTo", source="EFO:1000321", source="NCIT:C3188", source="MONDO:exact-label-match"} xref: NCIT:C3188 {source="DOID:2696", source="MONDO:equivalentTo", source="EFO:1000321", source="NCIT:C3188", source="exact-label-match"} xref: UMLS:C0023601 {source="DOID:2696", source="MONDO:equivalentTo", source="NCIT:C3188"} is_a: EFO:0001379 ! endocrine system disease is_a: EFO:1000052 {source="DOID:2696/inferred", source="NCIT:C3188"} ! sex cord-stromal tumor relationship: EFO:0000784 CL:0000178 ! has_disease_location Leydig cell property_value: closeMatch http://identifiers.org/snomedct/189739005 property_value: closeMatch http://identifiers.org/snomedct/45002009 property_value: exactMatch DOID:2696 property_value: exactMatch DOID:2696 property_value: exactMatch http://identifiers.org/mesh/D007984 property_value: exactMatch http://identifiers.org/mesh/D007984 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023601 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023601 property_value: exactMatch NCIT:C3188 property_value: exactMatch NCIT:C3188 [Term] id: EFO:1000322 name: Liver Cavernous Hemangioma def: "A hemangioma with cavernous vascular spaces arising from the liver. It is the most frequent benign tumor of the liver and usually affects young females." [] xref: NCIt:C96839 is_a: EFO:1001513 ! liver neoplasm [Term] id: EFO:1000323 name: Liver Diffuse Large B-Cell Lymphoma def: "A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver." [NCIT:C96843] synonym: "diffuse large B-cell lymphoma of liver" EXACT [MONDO:design_pattern] synonym: "hepatic diffuse large B-cell lymphoma" EXACT [NCIT:C96843] synonym: "liver diffuse large B-cell lymphoma" EXACT [] {comment="preferred label from MONDO"} synonym: "liver diffuse large B-cell lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "liver diffuse large B-cell lymphoma" EXACT [MONDO:patterns/location, NCIT:C96843] synonym: "primary hepatic diffuse large B-cell lymphoma" EXACT [NCIT:C96843] synonym: "primary liver diffuse large B-cell lymphoma" EXACT [NCIT:C96843] xref: EFO:1000323 {source="MONDO:equivalentTo"} xref: MONDO:0006268 xref: NCIT:C96843 {source="MONDO:equivalentTo", source="EFO:1000323", source="MONDO:exact-label-match"} xref: NCIT:C96843 {source="DesignPattern", source="MONDO:equivalentTo", source="EFO:1000323", source="exact-label-match"} xref: UMLS:C2184126 {source="NCIT:C96843", source="MONDO:equivalentTo"} is_a: EFO:0000182 {source="EFO:1000323"} ! hepatocellular carcinoma is_a: EFO:0000403 {source="EFO:1000323", source="MONDO:Redundant", source="NCIT:C96843"} ! diffuse large B-cell lymphoma is_a: MONDO:0000621 ! immune system cancer is_a: MONDO:0004695 {source="MONDO:Redundant", source="NCIT:C96843/inferred"} ! liver lymphoma relationship: EFO:0000784 CL:0000945 ! has_disease_location lymphocyte of B lineage property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2184126 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2184126 property_value: exactMatch NCIT:C96843 property_value: exactMatch NCIT:C96843 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:1000324 name: Liver Inflammatory Myofibroblastic Tumor def: "A multinodular intermediate fibroblastic neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." [] xref: NCIt:C5858 is_a: EFO:1001513 ! liver neoplasm [Term] id: EFO:1000325 name: Liver Neuroendocrine Tumor def: "An extremely rare, usually solitary, well-differentiated neuroendocrine tumor (carcinoid tumor) arising from the liver. There is mild nuclear atypia and low mitotic activity present. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation. The vast majority of carcinoid tumors found in the liver represent metastases from other anatomic sites." [] xref: NCIt:C5783 is_a: EFO:0001421 ! liver disease is_a: EFO:0003769 ! endocrine neoplasm [Term] id: EFO:1000326 name: Lobular Breast Carcinoma In Situ def: "A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma." [NCIT:C4018] synonym: "breast lobular carcinoma in situ" RELATED [ONCOTREE:LCIS] synonym: "LCIS" EXACT ABBREVIATION [NCIT:C4018] synonym: "lobular breast carcinoma in situ" EXACT [] {comment="preferred label from MONDO"} synonym: "lobular breast carcinoma in situ" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "lobular breast carcinoma in situ" EXACT [NCIT:C4018] synonym: "lobular Ca in situ of breast" EXACT [NCIT:C4018] synonym: "lobular Ca in situ of the breast" EXACT [NCIT:C4018] synonym: "lobular carcinoma in situ" EXACT [NCIT:C4018] synonym: "lobular carcinoma in situ (LCIS)" EXACT [NCIT:C4018] synonym: "lobular carcinoma in situ of breast" EXACT [NCIT:C4018] synonym: "lobular carcinoma in situ of the breast" EXACT [NCIT:C4018] synonym: "lobular carcinoma in situ of the breast (LCIS)" EXACT [NCIT:C4018] synonym: "non-infiltrating lobular breast carcinoma" EXACT [NCIT:C4018] synonym: "non-infiltrating lobular carcinoma" EXACT [NCIT:C4018] synonym: "non-infiltrating lobular carcinoma of breast" EXACT [NCIT:C4018] synonym: "non-infiltrating lobular carcinoma of the breast" EXACT [NCIT:C4018] synonym: "non-invasive lobular breast carcinoma" EXACT [NCIT:C4018] synonym: "non-invasive lobular carcinoma of breast" EXACT [NCIT:C4018] synonym: "non-invasive lobular carcinoma of the breast" EXACT [NCIT:C4018] xref: EFO:1000326 {source="MONDO:equivalentTo"} xref: ICDO:8520/2 {source="NCIT:C4018"} xref: MONDO:0006270 xref: NCIT:C4018 {source="MONDO:equivalentTo", source="EFO:1000326"} xref: ONCOTREE:LCIS {source="MONDO:equivalentTo"} xref: SCTID:109888004 {source="MONDO:equivalentTo"} xref: UMLS:C0279563 {source="MONDO:equivalentTo", source="NCIT:C4018"} xref: UMLS:C0334381 {source="MONDO:equivalentTo"} is_a: EFO:0000304 {source="EFO:1000326", source="MONDO:Redundant", source="NCIT:C4018/inferred"} ! breast adenocarcinoma is_a: MONDO:0002486 {source="NCIT:C4018"} ! lobular neoplasia is_a: MONDO:0003218 {source="MONDO:Redundant", source="NCIT:C4018/inferred"} ! adenocarcinoma in situ property_value: exactMatch http://identifiers.org/snomedct/109888004 property_value: exactMatch http://identifiers.org/snomedct/109888004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279563 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279563 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334381 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334381 property_value: exactMatch NCIT:C4018 property_value: exactMatch NCIT:C4018 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1000327 name: Low Grade Central Osteosarcoma def: "A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma." [NCIT:C6474] synonym: "intraosseous well-differentiated osteogenic sarcoma" EXACT [NCIT:C6474] synonym: "intraosseous well-differentiated osteosarcoma" EXACT [NCIT:C6474] synonym: "low grade central osteosarcoma" EXACT [NCIT:C6474] synonym: "low grade central osteosarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "low grade central osteosarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "low grade intramedullary osteosarcoma" EXACT [NCIT:C6474] synonym: "low-grade central osteosarcoma" RELATED [ONCOTREE:LGCOS] synonym: "low-grade intramedullary osteosarcoma" EXACT [NCIT:C6474] xref: EFO:1000327 {source="MONDO:equivalentTo"} xref: ICDO:9187/3 {source="NCIT:C6474"} xref: MONDO:0006271 xref: NCIT:C6474 {source="MONDO:equivalentTo", source="EFO:1000327"} xref: ONCOTREE:LGCOS {source="MONDO:equivalentTo"} xref: UMLS:C1266163 {source="NCIT:C6474", source="MONDO:equivalentTo"} xref: UMLS:C3814534 {source="MONDO:equivalentTo"} is_a: EFO:0000637 {source="EFO:1000327", source="MONDO:Redundant", source="NCIT:C6474/inferred", source="ONCOTREE:LGCOS"} ! osteosarcoma intersection_of: EFO:0000637 ! osteosarcoma intersection_of: has_characteristic MONDO:0024491 ! tumor grade 1, general grading system relationship: has_characteristic MONDO:0024491 ! tumor grade 1, general grading system property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266163 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266163 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3814534 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3814534 property_value: exactMatch NCIT:C6474 property_value: exactMatch NCIT:C6474 [Term] id: EFO:1000328 name: Low Grade Fibromyxoid Sarcoma def: "A low grade, late-metastasizing variant of fibrosarcoma characterized by alternating fibrous and myxoid areas and a whorling growth pattern. The neoplastic cells have a spindle morphology, and lack hyperchromasia or significant nuclear atypia. Approximately 40% of cases show the focal presence of collagen rosettes. A t(7;16)(q33;p11) translocation has been identified in the majority of cases, associated with the presence of FUS-CREB3L2 fusion protein. Rare cases carry the t(11;16)(p11;p11) translocation which is associated with the presence of the FUS-CREB3L1 fusion protein." [NCIT:C45202] synonym: "low grade fibromyxoid sarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "low grade fibromyxoid sarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "low grade fibromyxoid sarcoma" EXACT [NCIT:C45202] synonym: "low-grade fibromyxoid sarcoma" RELATED [ONCOTREE:LGFMS] xref: EFO:1000328 {source="MONDO:equivalentTo"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"} xref: MONDO:0006272 xref: NCIT:C45202 {source="MONDO:equivalentTo", source="EFO:1000328", source="exact-label-match"} xref: NCIT:C45202 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000328"} xref: ONCOTREE:LGFMS {source="MONDO:equivalentTo"} xref: SCTID:404088004 {source="MONDO:equivalentTo"} xref: UMLS:C1275282 {source="MONDO:equivalentTo", source="NCIT:C45202"} is_a: EFO:0002087 {source="EFO:1000328", source="MONDO:Redundant", source="NCIT:C45202/inferred"} ! fibrosarcoma intersection_of: EFO:0002087 ! fibrosarcoma intersection_of: has_characteristic MONDO:0024491 ! tumor grade 1, general grading system relationship: has_characteristic MONDO:0024491 ! tumor grade 1, general grading system property_value: exactMatch http://identifiers.org/snomedct/404088004 property_value: exactMatch http://identifiers.org/snomedct/404088004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275282 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275282 property_value: exactMatch NCIT:C45202 property_value: exactMatch NCIT:C45202 [Term] id: EFO:1000329 name: Low Grade Fibromyxoid Sarcoma with Giant Collagen Rosettes def: "A low grade fibromyxoid sarcoma characterized by the presence of prominent collagen rosettes." [NCIT:P378] synonym: "hyalinizing spindle cell tumor with giant Rosettes" EXACT [NCIT:C45203] synonym: "hyalinizing spindle cell tumour with giant Rosettes" EXACT OMO:0003005 [] synonym: "low grade fibromyxoid sarcoma with giant collagen rosettes" EXACT [] {comment="preferred label from MONDO"} synonym: "low grade fibromyxoid sarcoma with giant collagen rosettes" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:1000329 {source="MONDO:equivalentTo"} xref: MONDO:0006273 xref: NCIT:C45203 {source="MONDO:equivalentTo", source="EFO:1000329"} xref: UMLS:C1708749 {source="MONDO:equivalentTo", source="NCIT:C45203"} is_a: EFO:1000328 {source="NCIT:C45203"} ! Low Grade Fibromyxoid Sarcoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1708749 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1708749 property_value: exactMatch NCIT:C45203 property_value: exactMatch NCIT:C45203 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql [Term] id: EFO:1000330 name: Low Grade Vulvar Intraepithelial Neoplasia def: "An intraepithelial lesion of the vulvar squamous epithelium that represents the clinical and morphological manifestation of a productive HPV infection. Low grade refers to the associated low risk of concurrent or future cancer. (WHO, 2014)" [NCIT:P378] synonym: "grade 1 VIN" EXACT [NCIT:C4760] synonym: "grade 1 vulvar intraepithelial neoplasia" EXACT [NCIT:C4760] synonym: "grade I VIN" EXACT [NCIT:C4760] synonym: "grade I vulvar intraepithelial neoplasia" EXACT [NCIT:C4760] synonym: "intraepithelial neoplasia of the vulva grade 1" EXACT [NCIT:C4760] synonym: "intraepithelial neoplasia of vulva grade 1" EXACT [NCIT:C4760] synonym: "low grade VIN" EXACT [NCIT:C4760] synonym: "low grade vulvar intraepithelial neoplasia" EXACT [] {comment="preferred label from MONDO"} synonym: "low grade vulvar intraepithelial neoplasia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "VIN 1" EXACT [NCIT:C4760] synonym: "VIN 1 of usual type" EXACT [NCIT:C4760] synonym: "VIN grade 1" EXACT [NCIT:C4760] synonym: "vulva intraepithelial neoplasia grade 1" EXACT [NCIT:C4760] synonym: "vulvar flat condyloma" EXACT [NCIT:C4760] synonym: "vulvar intraepithelial neoplasia 1 of usual type" EXACT [NCIT:C4760] synonym: "vulvar intraepithelial neoplasia grade 1" EXACT [NCIT:C4760] synonym: "vulvar Low grade squamous intraepithelial lesion" EXACT [NCIT:C4760] synonym: "vulvar Low-grade squamous intraepithelial lesion" EXACT [NCIT:C4760] synonym: "vulvar mild squamous dysplasia" EXACT [NCIT:C4760] xref: EFO:1000330 {source="MONDO:equivalentTo"} xref: MONDO:0006274 xref: NCIT:C4760 {source="EFO:1000330", source="MONDO:equivalentTo"} xref: UMLS:C0495106 {source="NCIT:C4760", source="MONDO:equivalentTo"} is_a: EFO:0002627 {source="EFO:1000330", source="MONDO:Entailed", source="MONDO:Redundant"} ! vulvar intraepithelial neoplasia intersection_of: EFO:0002627 ! vulvar intraepithelial neoplasia intersection_of: has_characteristic MONDO:0024491 ! tumor grade 1, general grading system relationship: has_characteristic MONDO:0024491 ! tumor grade 1, general grading system property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0495106 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0495106 property_value: exactMatch NCIT:C4760 property_value: exactMatch NCIT:C4760 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql [Term] id: EFO:1000331 name: obsolete_lung carcioma property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.65" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "class created in error due to a typo" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true [Term] id: EFO:1000332 name: Lung Giant Cell Carcinoma def: "A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion." [NCIT:P378] synonym: "GCLC" RELATED ABBREVIATION [ONCOTREE:GCLC] synonym: "giant cell carcinoma" BROAD [DOID:5583, NCIT:C3779] synonym: "giant cell carcinoma" EXACT [DOID:5583, NCIT:C3779] synonym: "giant cell carcinoma of lung" EXACT [NCIT:C4452] synonym: "giant cell carcinoma of the lung" EXACT [NCIT:C4452] synonym: "giant cell lung carcinoma" EXACT [DOID:5583, NCIT:C4452] synonym: "lung giant cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "lung giant cell carcinoma" EXACT [NCIT:C4452] synonym: "lung giant cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: DOID:5583 {source="MONDO:equivalentTo"} xref: EFO:1000332 {source="MONDO:equivalentTo"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D018286 {source="MONDO:equivalentTo", source="DOID:5583"} xref: MONDO:0006275 xref: NCIT:C4452 {source="MONDO:equivalentTo", source="EFO:1000332", source="DOID:5583"} xref: ONCOTREE:GCLC {source="MONDO:equivalentTo"} xref: SCTID:254631008 {source="MONDO:equivalentTo", source="DOID:5583"} xref: UMLS:C0206703 {source="MONDO:equivalentTo", source="DOID:5583"} xref: UMLS:C0345960 {source="NCIT:C4452", source="MONDO:equivalentTo", source="DOID:5583"} is_a: EFO:1000336 {source="NCIT:C4452"} ! Lung Sarcomatoid Carcinoma property_value: closeMatch http://identifiers.org/snomedct/42596004 property_value: closeMatch NCIT:C3779 property_value: exactMatch DOID:5583 property_value: exactMatch DOID:5583 property_value: exactMatch http://identifiers.org/mesh/D018286 property_value: exactMatch http://identifiers.org/mesh/D018286 property_value: exactMatch http://identifiers.org/snomedct/254631008 property_value: exactMatch http://identifiers.org/snomedct/254631008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206703 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206703 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345960 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345960 property_value: exactMatch NCIT:C4452 property_value: exactMatch NCIT:C4452 [Term] id: EFO:1000333 name: Lung Inflammatory Myofibroblastic Tumor def: "An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." [NCIT:C39740] synonym: "inflammatory myofibroblastic lung tumor" RELATED [ONCOTREE:IMTL] synonym: "inflammatory myofibroblastic lung tumour" RELATED OMO:0003005 [] synonym: "lung inflammatory myofibroblastic tumor" EXACT [MONDO:patterns/location, NCIT:C39740] synonym: "lung inflammatory myofibroblastic tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "lung inflammatory myofibroblastic tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:1000333 {source="MONDO:equivalentTo"} xref: ICDO:8827/1 {source="NCIT:C39740"} xref: MONDO:0006276 xref: NCIT:C39740 {source="EFO:1000333", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C39740 {source="EFO:1000333", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:IMTL {source="MONDO:equivalentTo"} xref: UMLS:C1518038 {source="NCIT:C39740", source="MONDO:equivalentTo"} is_a: EFO:0001071 {source="EFO:1000333"} ! lung carcinoma is_a: MONDO:0015798 {source="MONDO:Redundant", source="NCIT:C39740"} ! inflammatory myofibroblastic tumor property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518038 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518038 property_value: exactMatch NCIT:C39740 property_value: exactMatch NCIT:C39740 [Term] id: EFO:1000334 name: Lung Lymphangioleiomyomatosis def: "Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course." [NCIT:C38153] synonym: "lung lymphangioleiomyomatosis" EXACT [MONDO:patterns/location, NCIT:C38153] synonym: "lung lymphangioleiomyomatosis" EXACT [] {comment="preferred label from MONDO"} synonym: "lung lymphangioleiomyomatosis" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "lung lymphangiomyomatosis" EXACT [NCIT:C38153] synonym: "lymphangioleiomyomatosis" RELATED [DOID:3319] synonym: "pulmonary lymphangioleiomyomatosis" EXACT [] synonym: "pulmonary lymphangiomyomatosis" RELATED [ONCOTREE:LAM] xref: COHD:4174275 {source="MONDO:equivalentTo"} xref: DOID:3319 {source="MONDO:equivalentTo"} xref: EFO:1000334 {source="MONDO:equivalentTo"} xref: GARD:0003319 {source="MONDO:equivalentTo"} xref: ICD10:D48.7 {source="Orphanet:538", source="ORDO:538/attributed", source="ORDO:538/ntbt"} xref: ICD9:518.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:518.89 {source="MONDO:relatedTo", source="i2s"} xref: MedDRA:10049459 {source="Orphanet:538", source="Orphanet:538/e"} xref: MedDRA:10049459 {source="ORDO:538/e", source="Orphanet:538"} xref: MESH:D018192 {source="ORDO:538/e", source="MONDO:equivalentTo", source="Orphanet:538"} xref: MONDO:0006277 xref: NCIT:C38153 {source="MONDO:equivalentTo", source="EFO:1000334"} xref: OMIM:606690 {source="ORDO:538/e", source="MONDO:equivalentTo", source="Orphanet:538"} xref: ONCOTREE:LAM {source="MONDO:equivalentTo"} xref: Orphanet:538 {source="MONDO:equivalentTo", source="OMIM:606690"} xref: SCTID:277844007 {source="MONDO:equivalentTo", source="DOID:3319"} is_a: EFO:0001071 ! lung carcinoma is_a: MONDO:0011705 {source="MONDO:Redundant", source="NCIT:C38153"} ! lymphangioleiomyomatosis is_a: MONDO:0017027 {source="Orphanet:538"} ! primary interstitial lung disease specific to adulthood is_a: MONDO:0020588 ! lung PEComa relationship: has_characteristic MONDO:0021136 {source="MONDO:0015510"} ! rare property_value: closeMatch http://identifiers.org/meddra/10049459 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0349649 property_value: exactMatch DOID:3319 property_value: exactMatch DOID:3319 property_value: exactMatch http://identifiers.org/meddra/10049459 property_value: exactMatch http://identifiers.org/mesh/D018192 property_value: exactMatch http://identifiers.org/omim/606690 property_value: exactMatch http://identifiers.org/snomedct/277844007 property_value: exactMatch http://identifiers.org/snomedct/277844007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751674 property_value: exactMatch NCIT:C38153 property_value: exactMatch NCIT:C38153 property_value: exactMatch Orphanet:538 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: excluded_subClassOf MONDO:0005138 {source="EFO:1000334"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4016 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5537 xsd:anyURI [Term] id: EFO:1000335 name: Lung Papilloma def: "A benign papillary neoplasm that arises endobronchially. It is classified as squamous cell, glandular, or mixed squamous cell and glandular papilloma. Patients usually present with signs and symptoms of bronchial obstruction." [NCIT:C8295] synonym: "lung papilloma" EXACT [] {comment="preferred label from MONDO"} synonym: "lung papilloma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "lung papilloma" EXACT [MONDO:patterns/location, NCIT:C8295] synonym: "papilloma of respiratory tract" EXACT [NCIT:C8295] synonym: "papilloma of the respiratory tract" EXACT [NCIT:C8295] synonym: "respiratory tract papilloma" EXACT [NCIT:C8295] xref: EFO:1000335 {source="MONDO:equivalentTo"} xref: MONDO:0006278 xref: NCIT:C8295 {source="MONDO:equivalentTo", source="EFO:1000335", source="MONDO:exact-label-match"} xref: NCIT:C8295 {source="DesignPattern", source="MONDO:equivalentTo", source="EFO:1000335", source="exact-label-match"} xref: UMLS:C0281373 {source="MONDO:equivalentTo"} is_a: MONDO:0002363 {source="MONDO:Redundant", source="NCIT:C8295"} ! papilloma is_a: MONDO:0002732 ! lung benign neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0281373 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0281373 property_value: exactMatch NCIT:C8295 property_value: exactMatch NCIT:C8295 [Term] id: EFO:1000336 name: Lung Sarcomatoid Carcinoma def: "A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor." [NCIT:C45540] synonym: "lung sarcomatoid carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "lung sarcomatoid carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "lung sarcomatoid carcinoma" EXACT [MONDO:patterns/location, NCIT:C45540] synonym: "sarcomatoid carcinoma of the lung" RELATED [ONCOTREE:SARCL] xref: DOID:0080777 {source="MONDO:equivalentTo"} xref: EFO:1000336 {source="MONDO:equivalentTo"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="i2s"} xref: MONDO:0006279 xref: NCIT:C45540 {source="MONDO:equivalentTo", source="EFO:1000336", source="exact-label-match"} xref: NCIT:C45540 {source="MONDO:equivalentTo", source="EFO:1000336", source="MONDO:exact-label-match"} xref: ONCOTREE:SARCL {source="MONDO:equivalentTo"} xref: SCTID:707460002 {source="MONDO:equivalentTo"} is_a: EFO:0003050 ! large cell lung carcinoma is_a: EFO:1000520 {source="MONDO:Redundant", source="NCIT:C45540"} ! Sarcomatoid Carcinoma property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1708781 property_value: exactMatch DOID:0080777 property_value: exactMatch http://identifiers.org/snomedct/707460002 property_value: exactMatch http://identifiers.org/snomedct/707460002 property_value: exactMatch NCIT:C45540 property_value: exactMatch NCIT:C45540 [Term] id: EFO:1000337 name: Lung Sclerosing Hemangioma alt_id: MONDO:0006934 def: "A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic." [NCIT:C5656] comment: Editor note: we beieve the 3 DO classes are equivalent comment: Editor note: we believe the two disease ontology (DO) classes are equivalent. synonym: "lung sclerosing angioma" EXACT [NCIT:C5656] synonym: "lung sclerosing hemangioma" EXACT [NCIT:C5656] synonym: "lung sclerosing hemangioma" EXACT [] {comment="preferred label from MONDO"} synonym: "lung sclerosing hemangioma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "Pneumocytoma" EXACT [DOID:5766, NCIT:C5656] synonym: "pulmonary sclerosing hemangioma" RELATED [DOID:5766] synonym: "sclerosing angioma of lung" EXACT [NCIT:C5656] synonym: "sclerosing angioma of the lung" EXACT [NCIT:C5656] synonym: "sclerosing haemangioma" EXACT [DOID:495] synonym: "sclerosing hemangioma" EXACT [DOID:495] synonym: "sclerosing hemangioma of lung" EXACT [NCIT:C5656] synonym: "sclerosing hemangioma of the lung" EXACT [NCIT:C5656] synonym: "sclerosing Pneumocytoma" EXACT [NCIT:C5656] xref: DOID:495 {source="MONDO:equivalentTo"} xref: DOID:5766 {source="EFO:1001136", source="MONDO:equivalentTo"} xref: EFO:1000337 {source="MONDO:equivalentTo"} xref: ICD9:228.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:228.09 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D047868 {source="DOID:5766", source="EFO:1001136", source="MONDO:equivalentTo"} xref: MONDO:0006280 xref: NCIT:C5656 {source="DOID:5766", source="MONDO:equivalentTo", source="EFO:1000337"} xref: SCTID:707365008 {source="DOID:5766", source="EFO:1001136", source="MONDO:equivalentTo"} xref: UMLS:C1509148 {source="MONDO:equivalentTo", source="DOID:495"} is_a: MONDO:0003194 {source="DOID:5766", source="MONDO:Redundant"} ! hemangioma of lung property_value: closeMatch http://identifiers.org/snomedct/134302009 property_value: closeMatch http://identifiers.org/snomedct/72079004 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1334455 property_value: exactMatch DOID:495 property_value: exactMatch DOID:495 property_value: exactMatch DOID:5766 property_value: exactMatch DOID:5766 property_value: exactMatch http://identifiers.org/mesh/D047868 property_value: exactMatch http://identifiers.org/mesh/D047868 property_value: exactMatch http://identifiers.org/snomedct/707365008 property_value: exactMatch http://identifiers.org/snomedct/707365008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1509148 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1509148 property_value: exactMatch NCIT:C5656 property_value: exactMatch NCIT:C5656 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: excluded_subClassOf MONDO:0005138 {source="EFO:1000337"} [Term] id: EFO:1000338 name: Lung Signet Ring Cell Carcinoma def: "A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells." [NCIT:C45514] synonym: "lung signet ring cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "lung signet ring cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "lung signet ring cell carcinoma" EXACT [MONDO:patterns/location] synonym: "signet ring lung adenocarcinoma" RELATED [DOID:0080305] xref: DOID:0080305 {source="MONDO:equivalentTo"} xref: EFO:1000338 {source="MONDO:equivalentTo"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="i2s"} xref: MONDO:0006281 xref: NCIT:C45514 {source="MONDO:equivalentTo", source="EFO:1000338"} xref: SCTID:707407001 {source="MONDO:equivalentTo"} is_a: EFO:0000571 {source="DOID:0080305", source="EFO:1000338", source="MONDO:Redundant"} ! lung adenocarcinoma is_a: EFO:0000698 {source="EFO:1000338", source="MONDO:Redundant"} ! signet ring cell carcinoma property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1708782 property_value: exactMatch DOID:0080305 property_value: exactMatch DOID:0080305 property_value: exactMatch http://identifiers.org/snomedct/707407001 property_value: exactMatch http://identifiers.org/snomedct/707407001 property_value: exactMatch NCIT:C45514 property_value: exactMatch NCIT:C45514 [Term] id: EFO:1000339 name: Lymphangiosarcoma def: "A malignant neoplasm arising from the endothelial cells of the lymphatic vessels." [NCIT:C3205] synonym: "lymphangioendothelial sarcoma" EXACT [NCIT:C3205] synonym: "lymphangiosarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "lymphangiosarcoma" EXACT [NCIT:C3205] synonym: "lymphangiosarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "lymphangiosarcoma of Stewart and Treves" EXACT [DOID:2689, NCIT:C4490] synonym: "lymphangiosarcoma of Stewart and Treves" RELATED [DOID:2689, NCIT:C4490] synonym: "lymphangiosarcoma, malignant" EXACT [NCIT:C3205] synonym: "malignant lymphangioendothelioma" EXACT [DOID:2689, NCIT:C3205] synonym: "Stewart-Treves syndrome" EXACT [DOID:2689] xref: DOID:2689 {source="MONDO:equivalentTo"} xref: EFO:1000339 {source="MONDO:equivalentTo"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9170/3 {source="NCIT:C3205"} xref: MESH:D008204 {source="MONDO:equivalentTo", source="DOID:2689"} xref: MONDO:0006282 xref: NCIT:C3205 {source="MONDO:equivalentTo", source="DOID:2689", source="EFO:1000339"} xref: SCTID:403986008 {source="MONDO:equivalentTo", source="DOID:2689"} xref: UMLS:C0024224 {source="MONDO:equivalentTo", source="DOID:2689", source="NCIT:C3205"} is_a: EFO:0000313 ! carcinoma is_a: EFO:0000691 {source="EFO:1000339", source="MESH:D008204", source="MONDO:Redundant"} ! sarcoma is_a: EFO:0007352 ! lymphatic system disease relationship: EFO:0000784 CL:0000115 ! has_disease_location endothelial cell property_value: closeMatch http://identifiers.org/mesh/C537491 property_value: closeMatch http://identifiers.org/snomedct/63373002 property_value: exactMatch DOID:2689 property_value: exactMatch DOID:2689 property_value: exactMatch http://identifiers.org/mesh/D008204 property_value: exactMatch http://identifiers.org/mesh/D008204 property_value: exactMatch http://identifiers.org/snomedct/403986008 property_value: exactMatch http://identifiers.org/snomedct/403986008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024224 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024224 property_value: exactMatch NCIT:C3205 property_value: exactMatch NCIT:C3205 [Term] id: EFO:1000340 name: Lymphoepithelioma-Like Lung Carcinoma def: "A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration." [NCIT:C45519] synonym: "lymphoepithelioma-like carcinoma of the lung" RELATED [ONCOTREE:LECLC] synonym: "lymphoepithelioma-like lung carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "lymphoepithelioma-like lung carcinoma" EXACT [] {comment="preferred label from MONDO"} xref: EFO:1000340 {source="MONDO:equivalentTo"} xref: MONDO:0006283 xref: NCIT:C45519 {source="EFO:1000340", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C45519 {source="EFO:1000340", source="MONDO:equivalentTo", source="exact-label-match"} xref: ONCOTREE:LECLC {source="MONDO:equivalentTo"} xref: UMLS:C1708792 {source="NCIT:C45519", source="MONDO:equivalentTo"} is_a: EFO:0003050 {source="EFO:1000340", source="NCIT:C45519", source="ONCOTREE:LECLC"} ! large cell lung carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1708792 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1708792 property_value: exactMatch NCIT:C45519 property_value: exactMatch NCIT:C45519 [Term] id: EFO:1000341 name: Lymphomatoid Papulosis def: "A chronic, recurrent cutaneous disorder characterized by the presence of spontaneously regressing papules. The papules are composed of an atypical lymphocytic infiltrate that contains anaplastic CD30-positive T-cells, which are found in type A and diffuse large cell type (type C) lymphomatoid papulosis. In a small number of cases, of type B, the lymphocytic infiltrate is composed of small, cerebriform-like lymphocytes that are often negative for CD30. The majority of cases follow a benign clinical course, but some cases are clonal and may progress to lymphoma. Treatment options include low dose methotrexate and psoralen/UVA (PUVA)." [] xref: MedDRA:10056670 xref: NCIt:C3721 is_a: EFO:0004198 ! skin neoplasm [Term] id: EFO:1000342 name: Lymphoplasmacyte-Rich Meningioma def: "A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells." [] xref: NCIt:C4720 is_a: EFO:0003851 ! meningeal neoplasm relationship: EFO:0000784 UBERON:0002360 ! has_disease_location meninx [Term] id: EFO:1000343 name: obsolete_lympoid tissue property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.13.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "This term was incorrect and was replaced by UBERON:0001744 lymphoid tissue." xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/UBERON_0001744 [Term] id: EFO:1000344 name: Major Salivary Gland Carcinoma def: "A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland." [NCIT:C5907] synonym: "carcinoma of Major salivary gland" EXACT [NCIT:C5907] synonym: "carcinoma of major salivary gland" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of the Major salivary gland" EXACT [NCIT:C5907] synonym: "carcinoma of the major salivary gland" EXACT [NCIT:C5907] synonym: "major salivary gland cancer" BROAD [NCIT:C5907] synonym: "major salivary gland cancer" EXACT [NCIT:C5907] synonym: "major salivary gland carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "major salivary gland carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "major salivary gland carcinoma" EXACT [MONDO:patterns/location, NCIT:C5907] xref: EFO:1000344 {source="MONDO:equivalentTo"} xref: MONDO:0006284 xref: NCIT:C5907 {source="EFO:1000344", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C5907 {source="EFO:1000344", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1334549 {source="NCIT:C5907", source="MONDO:equivalentTo"} is_a: MONDO:0000521 {source="MONDO:Redundant", source="NCIT:C5907"} ! salivary gland carcinoma is_a: MONDO:0044743 ! major salivary gland cancer property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334549 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334549 property_value: exactMatch NCIT:C5907 property_value: exactMatch NCIT:C5907 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:1000345 name: Major Salivary Gland Carcinoma ex Pleomorphic Adenoma def: "A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." [NCIT:C5975] synonym: "carcinoma ex pleomorphic adenoma of Major salivary gland" EXACT [NCIT:C5975] synonym: "carcinoma ex pleomorphic adenoma of the Major salivary gland" EXACT [NCIT:C5975] synonym: "major salivary gland carcinoma ex pleomorphic adenoma" EXACT [] {comment="preferred label from MONDO"} synonym: "major salivary gland carcinoma ex pleomorphic adenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "major salivary gland carcinoma ex pleomorphic adenoma" EXACT [MONDO:patterns/location, NCIT:C5975] synonym: "major salivary gland salivary gland carcinoma ex pleomorphic adenoma" EXACT [MONDO:patterns/location] xref: EFO:1000345 {source="MONDO:equivalentTo"} xref: MONDO:0006285 xref: NCIT:C5975 {source="MONDO:equivalentTo", source="EFO:1000345", source="MONDO:exact-label-match"} xref: NCIT:C5975 {source="DesignPattern", source="MONDO:equivalentTo", source="EFO:1000345", source="exact-label-match"} xref: UMLS:C1334550 {source="MONDO:equivalentTo", source="NCIT:C5975"} is_a: EFO:1000344 {source="MONDO:Redundant", source="NCIT:C5975"} ! Major Salivary Gland Carcinoma is_a: EFO:1000516 {source="MONDO:Redundant", source="NCIT:C5975"} ! Salivary Gland Carcinoma ex Pleomorphic Adenoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334550 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334550 property_value: exactMatch NCIT:C5975 property_value: exactMatch NCIT:C5975 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql [Term] id: EFO:1000346 name: Major Salivary Gland Mucoepidermoid Carcinoma def: "A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome." [NCIT:C5906] synonym: "major salivary gland mucoepidermoid cancer" EXACT [NCIT:C5906] synonym: "major salivary gland mucoepidermoid carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "major salivary gland mucoepidermoid carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "major salivary gland mucoepidermoid carcinoma" EXACT [MONDO:patterns/location, NCIT:C5906] synonym: "mucoepidermoid carcinoma of Major salivary gland" EXACT [NCIT:C5906] synonym: "mucoepidermoid carcinoma of the Major salivary gland" EXACT [NCIT:C5906] xref: EFO:1000346 {source="MONDO:equivalentTo"} xref: MONDO:0006286 xref: NCIT:C5906 {source="MONDO:equivalentTo", source="EFO:1000346", source="MONDO:exact-label-match"} xref: NCIT:C5906 {source="MONDO:equivalentTo", source="EFO:1000346", source="exact-label-match"} xref: UMLS:C1334551 {source="NCIT:C5906", source="MONDO:equivalentTo"} is_a: EFO:1000344 {source="MONDO:Redundant", source="NCIT:C5906"} ! Major Salivary Gland Carcinoma is_a: MONDO:0021009 {source="MONDO:Redundant", source="NCIT:C5906"} ! salivary gland mucoepidermoid carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334551 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334551 property_value: exactMatch NCIT:C5906 property_value: exactMatch NCIT:C5906 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: http://purl.org/dc/terms/conformsTo mucoepidermoid:carcinoma.yaml [Term] id: EFO:1000347 name: Malignancy in Giant Cell Tumor of Bone def: "A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor)." [NCIT:C4304] synonym: "bone giant cell sarcoma" EXACT [MONDO:0003114] synonym: "Dedifferentiated giant cell tumor" EXACT [NCIT:C4304] synonym: "Dedifferentiated giant cell tumour" EXACT OMO:0003005 [] synonym: "giant cell bone sarcoma" EXACT [NCIT:C4304] synonym: "giant cell sarcoma of bone" EXACT [NCIT:C4304] synonym: "giant cell sarcoma of the bone" EXACT [DOID:4719, NCIT:C4304] synonym: "giant cell tumor of bone, malignant" EXACT [DOID:4719] synonym: "giant cell tumor of bone, malignant (morphologic abnormality)" EXACT [DOID:4719] synonym: "giant cell tumour of bone, malignant" EXACT OMO:0003005 [] synonym: "giant cell tumour of bone, malignant (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "malignancy in giant cell tumor of bone" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "malignancy in giant cell tumor of bone" EXACT [NCIT:C4304] synonym: "malignancy in giant cell tumor of bone" EXACT [] {comment="preferred label from MONDO"} synonym: "malignancy in giant cell tumor of the bone" EXACT [NCIT:C4304] synonym: "malignancy in giant cell tumour of the bone" EXACT OMO:0003005 [] synonym: "malignant giant cell tumor of bone" EXACT [NCIT:C4304] synonym: "malignant giant cell tumour of bone" EXACT OMO:0003005 [] synonym: "OSTEOCLASTOMA, malignant" EXACT [NCIT:C4304] xref: DOID:4719 {source="MONDO:equivalentTo"} xref: EFO:1000347 {source="MONDO:equivalentTo"} xref: ICDO:9250/3 {source="NCIT:C4304"} xref: MONDO:0006287 xref: NCIT:C4304 {source="MONDO:equivalentTo", source="EFO:1000347", source="DOID:4719"} xref: UMLS:C0334552 {source="MONDO:equivalentTo", source="NCIT:C4304", source="DOID:4719"} is_a: MONDO:0002402 {source="DOID:4719", source="NCIT:C4304/inferred"} ! malignant giant cell tumor is_a: MONDO:0021054 {source="NCIT:C4304"} ! bone sarcoma property_value: closeMatch http://identifiers.org/snomedct/10069009 property_value: exactMatch DOID:4719 property_value: exactMatch DOID:4719 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334552 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334552 property_value: exactMatch NCIT:C4304 property_value: exactMatch NCIT:C4304 [Term] id: EFO:1000348 name: Malignant Adrenal Gland Pheochromocytoma def: "A pheochromocytoma that metastasizes to other anatomic sites. Common sites of metastasis include lymph nodes, bones, liver, and lung. Morphologic features associated with malignant pheochromocytomas include: atypical mitotic figures, capsular and vascular invasion, tumor cell necrosis, and high mitotic activity." [NCIT:C4220] synonym: "adrenal gland pheochromocytoma, malignant" EXACT [MONDO:patterns/malignant] synonym: "malignant adrenal gland chromaffin neoplasm" EXACT [NCIT:C4220] synonym: "malignant adrenal gland chromaffin paraganglioma" EXACT [NCIT:C4220] synonym: "malignant adrenal gland chromaffin tumor" EXACT [NCIT:C4220] synonym: "malignant adrenal gland chromaffin tumour" EXACT OMO:0003005 [] synonym: "malignant adrenal gland Chromaffinoma" EXACT [NCIT:C4220] synonym: "malignant adrenal gland paraganglioma" EXACT [NCIT:C4220] synonym: "malignant adrenal gland pheochromocytoma" EXACT [NCIT:C4220] synonym: "malignant adrenal gland pheochromocytoma" EXACT [] {comment="preferred label from MONDO"} synonym: "malignant adrenal gland pheochromocytoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "malignant adrenal medullary paraganglioma" EXACT [NCIT:C4220] synonym: "malignant adrenal medullary pheochromocytoma" EXACT [NCIT:C4220] synonym: "malignant adrenal pheochromocytoma" EXACT [NCIT:C4220] synonym: "malignant pheochromocytoma" EXACT [NCIT:C4220] synonym: "pheochromoblastoma" EXACT [NCIT:C4220] synonym: "pheochromocytoma, malignant" EXACT [NCIT:C4220] xref: DOID:0080347 {source="MONDO:equivalentTo"} xref: EFO:1000348 {source="MONDO:equivalentTo"} xref: ICDO:8700/3 {source="NCIT:C4220"} xref: MONDO:0006288 xref: NCIT:C4220 {source="MONDO:equivalentTo", source="EFO:1000348", source="MONDO:exact-label-match"} xref: NCIT:C4220 {source="MONDO:equivalentTo", source="EFO:1000348", source="exact-label-match"} xref: SCTID:21851000119103 {source="MONDO:equivalentTo"} xref: UMLS:C0334419 {source="NCIT:C4220", source="MONDO:equivalentTo"} is_a: EFO:0000239 {source="EFO:1000348", source="MONDO:Redundant", source="NCIT:C4220"} ! adrenal gland pheochromocytoma is_a: EFO:0000326 ! central nervous system cancer is_a: MONDO:0002120 ! neuroendocrine carcinoma is_a: MONDO:0004202 ! adrenal medulla carcinoma is_a: MONDO:0021089 ! peripheral nervous system cancer property_value: exactMatch DOID:0080347 property_value: exactMatch DOID:0080347 property_value: exactMatch http://identifiers.org/snomedct/21851000119103 property_value: exactMatch http://identifiers.org/snomedct/21851000119103 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334419 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334419 property_value: exactMatch NCIT:C4220 property_value: exactMatch NCIT:C4220 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/malignant.yaml [Term] id: EFO:1000349 name: Malignant Bladder Paraganglioma def: "An extra-adrenal sympathetic paraganglioma of the bladder that metastasizes to other anatomic sites." [] xref: NCIt:C6416 is_a: EFO:0000489 ! extra-adrenal sympathetic paraganglioma [Term] id: EFO:1000350 name: Malignant Bone Neoplasm def: "A primary or metastatic malignant neoplasm affecting the bone or articular cartilage." [NCIT:C4016] synonym: "bone cancer" EXACT [NCIT:C4016] synonym: "bone cancer" EXACT [] {comment="preferred label from MONDO"} synonym: "bone neoplasm" BROAD [DOID:184] synonym: "bone tumor" BROAD [DOID:184] synonym: "bone tumour" BROAD OMO:0003005 [] synonym: "CA - bone cancer" EXACT [DOID:184] synonym: "cancer of bone" EXACT [NCIT:C4016] synonym: "cancer of skeletal element" EXACT [MONDO:patterns/cancer] synonym: "cancer of the bone" EXACT [NCIT:C4016] synonym: "malignant bone neoplasm" EXACT [DOID:184, NCIT:C4016] synonym: "malignant bone tumor" EXACT [DOID:184, NCIT:C4016] synonym: "malignant bone tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of bone" EXACT [DOID:184, NCIT:C4016] synonym: "malignant neoplasm of skeletal element" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the bone" EXACT [NCIT:C4016] synonym: "malignant osseous neoplasm" EXACT [NCIT:C4016] synonym: "malignant osseous tumor" EXACT [DOID:184, NCIT:C4016] synonym: "malignant osseous tumour" EXACT OMO:0003005 [] synonym: "malignant skeletal element neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of bone" EXACT [NCIT:C4016] synonym: "malignant tumor of the bone" EXACT [NCIT:C4016] synonym: "malignant tumour of bone" EXACT OMO:0003005 [] synonym: "malignant tumour of the bone" EXACT OMO:0003005 [] synonym: "osseous cancer" EXACT [NCIT:C4016] synonym: "osseous tumor" BROAD [DOID:184, NCIT:C9343] synonym: "osseous tumour" BROAD OMO:0003005 [] synonym: "skeletal element cancer" EXACT [MONDO:patterns/location] xref: CSP:2019-1041 {source="DOID:184"} xref: DOID:184 {source="MONDO:equivalentTo"} xref: ICD9:170.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D001859 {source="MONDO:equivalentTo", source="DOID:184"} xref: MONDO:0002129 xref: NCIT:C4016 {source="MONDO:equivalentTo"} xref: NCIt:C4016 xref: SCTID:428281000 {source="MONDO:equivalentTo"} is_a: EFO:0003820 {source="NCIT:C4016"} ! bone neoplasm is_a: MONDO:0000637 ! musculoskeletal system cancer property_value: exactMatch DOID:184 property_value: exactMatch http://identifiers.org/mesh/D001859 property_value: exactMatch http://identifiers.org/snomedct/428281000 property_value: exactMatch NCIT:C4016 [Term] id: EFO:1000351 name: obsolete_malignant epitheloid mesothelioma property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.98" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication\nUse http://www.ebi.ac.uk/efo/EFO_0006452\nLabel : malignant epithelioid mesothelioma" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0006452 [Term] id: EFO:1000352 name: Malignant Germ Cell Tumor def: "A gonadal or extragonadal malignant neoplasm that arises from germ cells. Representative examples include embryonal carcinoma, yolk sac tumor, and seminoma." [NCIT:C4925] subset: gard_rare synonym: "cancer of germ cell" EXACT [MONDO:patterns/cancer] synonym: "germ cell cancer" EXACT [MONDO:patterns/location] synonym: "germ cell tumor, malignant" EXACT [MONDO:patterns/malignant] synonym: "malignant germ cell neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4925] synonym: "malignant germ cell tumor" EXACT [NCIT:C4925] synonym: "malignant germ cell tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "malignant germ cell tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "malignant neoplasm of germ cell" EXACT [MONDO:patterns/cancer, NCIT:C4925] synonym: "malignant neoplasm of the germ cell" EXACT [NCIT:C4925] synonym: "malignant tumor of germ cell" EXACT [NCIT:C4925] synonym: "malignant tumor of the germ cell" EXACT [NCIT:C4925] synonym: "malignant tumour of germ cell" EXACT OMO:0003005 [] synonym: "malignant tumour of the germ cell" EXACT OMO:0003005 [] xref: EFO:1000352 {source="MONDO:equivalentTo"} xref: GARD:0003360 {source="MONDO:equivalentTo"} xref: MedDRA:10061184 xref: MONDO:0006290 xref: NCIT:C4925 {source="EFO:1000352", source="MONDO:equivalentTo"} xref: SCTID:145831000119103 {source="MONDO:equivalentTo"} xref: UMLS:C4048549 {source="MONDO:equivalentTo"} is_a: EFO:0000514 {source="EFO:1000352", source="MONDO:Redundant", source="NCIT:C4925"} ! germ cell tumor is_a: MONDO:0004992 ! cancer property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0740345 property_value: exactMatch http://identifiers.org/snomedct/145831000119103 property_value: exactMatch http://identifiers.org/snomedct/145831000119103 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4048549 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4048549 property_value: exactMatch NCIT:C4925 property_value: exactMatch NCIT:C4925 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/malignant.yaml [Term] id: EFO:1000353 name: Malignant Jugulotympanic Paraganglioma def: "A jugulotympanic paraganglioma that metastasizes to other anatomic sites." [NCIT:C4623] synonym: "cancer of jugular body" EXACT [MONDO:patterns/cancer] synonym: "jugular body cancer" EXACT [MONDO:patterns/location] synonym: "malignant glomus jugulare neoplasm" EXACT [NCIT:C4623] synonym: "malignant glomus jugulare tumor" EXACT [NCIT:C4623] synonym: "malignant glomus jugulare tumour" EXACT OMO:0003005 [] synonym: "malignant jugular body neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant jugulotympanic paraganglioma" EXACT [NCIT:C4623] synonym: "malignant jugulotympanic paraganglioma" EXACT [] {comment="preferred label from MONDO"} synonym: "malignant jugulotympanic paraganglioma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "malignant neoplasm of glomus jugulare" EXACT [NCIT:C4623] synonym: "malignant neoplasm of jugular body" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the glomus jugulare" EXACT [NCIT:C4623] synonym: "malignant tumor of glomus jugulare" EXACT [NCIT:C4623] synonym: "malignant tumor of the glomus jugulare" EXACT [NCIT:C4623] synonym: "malignant tumour of glomus jugulare" EXACT OMO:0003005 [] synonym: "malignant tumour of the glomus jugulare" EXACT OMO:0003005 [] xref: EFO:1000353 {source="MONDO:equivalentTo"} xref: MONDO:0006291 xref: NCIT:C4623 {source="EFO:1000353", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C4623 {source="EFO:1000353", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C0347856 {source="MONDO:equivalentTo", source="NCIT:C4623"} is_a: EFO:0000326 ! central nervous system cancer is_a: MONDO:0002095 ! vascular cancer is_a: MONDO:0002132 ! skull cancer is_a: MONDO:0004634 ! vein disorder is_a: MONDO:0021064 {source="NCIT:C4623"} ! jugulotympanic paraganglioma is_a: MONDO:0021069 {source="MONDO:Redundant", source="NCIT:C4623/inferred"} ! malignant endocrine neoplasm is_a: MONDO:0021089 ! peripheral nervous system cancer is_a: MONDO:0024499 ! vascular bone neoplasm is_a: MONDO:0043218 ! neurovascular disorder is_a: Orphanet:271847 ! Genetic endocrine tumor property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347856 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347856 property_value: exactMatch NCIT:C4623 property_value: exactMatch NCIT:C4623 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/cancer.yaml [Term] id: EFO:1000354 name: Malignant Laryngeal Neoplasm def: "A primary or metastatic malignant neoplasm involving the larynx. The majority are carcinomas." [NCIT:C7484] synonym: "cancer of larynx" EXACT [MONDO:patterns/cancer] synonym: "larynx cancer" EXACT [MONDO:patterns/location] synonym: "larynx cancer" EXACT [] {comment="preferred label from MONDO"} synonym: "malignant laryngeal neoplasm" EXACT [NCIT:C7484] synonym: "malignant laryngeal tumor" EXACT [NCIT:C7484] synonym: "malignant laryngeal tumour" EXACT OMO:0003005 [] synonym: "malignant larynx neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7484] synonym: "malignant larynx tumor" EXACT [NCIT:C7484] synonym: "malignant larynx tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of larynx" EXACT [MONDO:patterns/cancer, NCIT:C7484] synonym: "malignant neoplasm of the larynx" EXACT [NCIT:C7484] synonym: "malignant tumor of larynx" EXACT [NCIT:C7484] synonym: "malignant tumor of the larynx" EXACT [NCIT:C7484] synonym: "malignant tumour of larynx" EXACT OMO:0003005 [] synonym: "malignant tumour of the larynx" EXACT OMO:0003005 [] xref: DOID:2596 {source="MONDO:equivalentTo"} xref: ICD10:C32 xref: ICD9:161 {source="DOID:2596"} xref: ICD9:161.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:161.9 {source="DOID:2596", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MONDO:0002352 xref: NCIT:C7484 {source="DOID:2596", source="MONDO:equivalentTo"} xref: NCIt:C7484 xref: SCTID:363429002 {source="DOID:2596", source="MONDO:equivalentTo"} xref: UMLS:C0007107 {source="NCIT:C7484", source="DOID:2596", source="MONDO:equivalentTo"} is_a: EFO:0003817 {source="EFO:1000354", source="MONDO:Redundant", source="NCIT:C7484"} ! laryngeal neoplasm is_a: MONDO:0000376 {source="DOID:2596", source="MONDO:Redundant"} ! respiratory system cancer property_value: exactMatch DOID:2596 property_value: exactMatch http://identifiers.org/snomedct/363429002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007107 property_value: exactMatch NCIT:C7484 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1000355 name: Malignant Mesothelioma def: "A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos." [NCIT:C4456] subset: ordo_disease {source="Orphanet:50251"} synonym: "advanced malignant mesothelioma" EXACT [DOID:1790] synonym: "advanced malignant mesothelioma" NARROW [DOID:1790] synonym: "asbestos-related malignant mesothelioma" EXACT [DOID:1790] synonym: "asbestos-related malignant mesothelioma" NARROW [DOID:1790] synonym: "diffuse malignant mesothelioma" EXACT [DOID:1790, NCIT:C8420] synonym: "diffuse malignant mesothelioma" NARROW [DOID:1790, NCIT:C8420] synonym: "malignant mesothelial neoplasm" EXACT [NCIT:C4456] synonym: "malignant mesothelial neoplasm" NARROW [NCIT:C4456] synonym: "malignant mesothelial tumor" EXACT [NCIT:C4456] synonym: "malignant mesothelial tumour" EXACT OMO:0003005 [] synonym: "malignant mesothelioma" EXACT [] {comment="preferred label from MONDO"} synonym: "malignant mesothelioma" EXACT [MONDO:ambiguous, NCIT:C4456] synonym: "malignant mesothelioma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "malignant mesothelioma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "malignant neoplasm of mesothelium" EXACT [NCIT:C4456] synonym: "malignant neoplasm of the mesothelium" EXACT [NCIT:C4456] synonym: "malignant tumor of mesothelium" EXACT [DOID:1790, NCIT:C4456] synonym: "malignant tumor of the mesothelium" EXACT [NCIT:C4456] synonym: "malignant tumour of mesothelium" EXACT OMO:0003005 [] synonym: "malignant tumour of the mesothelium" EXACT OMO:0003005 [] synonym: "MESOM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:156240] synonym: "mesothelioma, malignant" EXACT [MONDO:Lexical, MONDO:patterns/malignant, NCIT:C4456, OMIM:156240] synonym: "mesothelioma, somatic" EXACT [OMIM:156240, OMIM:genemap2] xref: DOID:1790 {source="MONDO:equivalentTo"} xref: EFO:1000355 {source="MONDO:equivalentTo"} xref: GARD:0007026 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: HP:0100001 {source="MONDO:otherHierarchy"} xref: ICD10:C45.0 {source="ORDO:50251/e", source="Orphanet:50251"} xref: ICD9:199.1 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:199.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9050/3 {source="NCIT:C4456"} xref: MedDRA:10027406 {source="Orphanet:50251/e", source="Orphanet:50251"} xref: MedDRA:10027406 {source="ORDO:50251/e", source="Orphanet:50251"} xref: MESH:C562839 {source="DOID:1790", source="MONDO:equivalentTo"} xref: MESH:D000086002 {source="DOID:1790", source="MONDO:equivalentTo"} xref: MONDO:0006292 xref: NCIT:C4456 {source="DOID:1790", source="EFO:1000355", source="MONDO:equivalentTo"} xref: OMIM:156240 {source="DOID:1790", source="Orphanet:50251/e", source="MONDO:equivalentTo", source="Orphanet:50251"} xref: OMIM:156240 {source="DOID:1790", source="MONDO:equivalentTo", source="ORDO:50251/e", source="Orphanet:50251"} xref: Orphanet:50251 {source="OMIM:156240", source="MONDO:equivalentTo"} xref: SCTID:109378008 {source="MONDO:equivalentTo"} xref: UMLS:C0278752 {source="DOID:1790", source="MONDO:equivalentTo"} xref: UMLS:C0345967 {source="DOID:1790", source="OMIM:156240", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C4456"} xref: UMLS:C0345967 {source="DOID:1790", source="OMIM:156240", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C4456"} xref: UMLS:C1332338 {source="DOID:1790", source="MONDO:equivalentTo"} is_a: EFO:0000588 {source="EFO:1000355", source="MESH:C562839", source="MONDO:Redundant", source="NCIT:C4456"} ! mesothelioma is_a: EFO:0000684 ! respiratory system disease is_a: EFO:0009541 ! disease of peritoneum is_a: MONDO:0004992 ! cancer property_value: closeMatch http://identifiers.org/meddra/10027406 property_value: closeMatch http://identifiers.org/snomedct/62064005 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0392400 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1377913 property_value: exactMatch DOID:1790 property_value: exactMatch DOID:1790 property_value: exactMatch http://identifiers.org/meddra/10027406 property_value: exactMatch http://identifiers.org/mesh/C562839 property_value: exactMatch http://identifiers.org/mesh/D000086002 property_value: exactMatch http://identifiers.org/omim/156240 property_value: exactMatch http://identifiers.org/snomedct/109378008 property_value: exactMatch http://identifiers.org/snomedct/109378008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278752 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278752 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345967 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345967 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332338 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332338 property_value: exactMatch https://omim.org/entry/156240 property_value: exactMatch NCIT:C4456 property_value: exactMatch NCIT:C4456 property_value: exactMatch Orphanet:50251 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/malignant.yaml property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000589 "malignant mesothelioma (disease)" xsd:string [Term] id: EFO:1000356 name: Malignant Mixed Neoplasm def: "A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung." [NCIT:C3729] synonym: "malignant mixed cancer" EXACT [DOID:154] synonym: "malignant mixed neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "malignant mixed neoplasm" EXACT [DOID:154, MONDO:0006293, NCIT:C3729] synonym: "malignant mixed neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "malignant mixed tumor" EXACT [DOID:154, MESH:D018198, NCIT:C3729] synonym: "malignant mixed tumors" RELATED [MESH:D018198] synonym: "malignant mixed tumour" EXACT OMO:0003005 [] synonym: "malignant mixed tumours" RELATED OMO:0003005 [] synonym: "mixed cell type cancer" BROAD [DOID:154] synonym: "mixed cell type cancer" RELATED [DOID:154] synonym: "mixed neoplasm" BROAD [DOID:154] synonym: "mixed neoplasm" RELATED [DOID:154] synonym: "mixed neoplasm, malignant" EXACT [MONDO:patterns/malignant] synonym: "mixed tumor" BROAD [DOID:154, NCIT:C6930] synonym: "mixed tumor" EXACT [DOID:154, NCIT:C6930] synonym: "mixed tumor, malignant" EXACT [DOID:154] synonym: "mixed tumor, malignant (morphologic abnormality)" EXACT [DOID:154] synonym: "mixed tumor, malignant, NOS (morphologic abnormality)" EXACT [DOID:154] synonym: "mixed tumors, malignant" RELATED [MESH:D018198] synonym: "mixed tumour" BROAD OMO:0003005 [] synonym: "tumor, malignant mixed" RELATED [MESH:D018198] synonym: "tumor, mixed, malignant" EXACT [NCIT:C3729] synonym: "tumors, malignant mixed" RELATED [MESH:D018198] xref: DOID:154 {source="MONDO:equivalentTo", source="EFO:0007373"} xref: EFO:0007373 {source="MONDO:equivalentTo"} xref: EFO:1000356 {source="MONDO:equivalentTo"} xref: ICDO:8940/3 {source="NCIT:C3729"} xref: MESH:D018198 {source="MONDO:equivalentTo", source="DOID:154", source="EFO:0007373"} xref: MONDO:0005853 xref: NCIT:C3729 {source="MONDO:equivalentTo", source="EFO:1000356"} xref: UMLS:C0206625 {source="NCIT:C3729", source="MONDO:equivalentTo", source="DOID:154"} is_a: MONDO:0004992 {source="DOID:154", source="DOID:154/inferred", source="EFO:0007373/inferred", source="MONDO:Redundant", source="MONDO:cjm"} ! cancer is_a: MONDO:0021043 {source="MESH:D018198", source="MONDO:Redundant", source="NCIT:C3729"} ! mixed neoplasm property_value: closeMatch http://identifiers.org/snomedct/189802003 property_value: closeMatch http://identifiers.org/snomedct/8145008 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1368354 property_value: exactMatch DOID:154 property_value: exactMatch DOID:154 property_value: exactMatch http://identifiers.org/mesh/D018198 property_value: exactMatch http://identifiers.org/mesh/D018198 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206625 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206625 property_value: exactMatch NCIT:C3729 property_value: exactMatch NCIT:C3729 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/malignant.yaml [Term] id: EFO:1000357 name: Malignant Ovarian Brenner Tumor def: "A malignant neoplasm that arises from the ovary and is characterized by the presence of an invasive malignant transitional cell component and nests of benign transitional cells in a fibrotic stroma. When the tumor is confined to the ovary, the prognosis is good." [] xref: NCIt:C4270 is_a: EFO:0003893 ! ovarian neoplasm [Term] id: EFO:1000358 name: Malignant Ovarian Mixed Epithelial Tumor def: "A malignant epithelial tumor arising from the ovary. It is characterized by an admixture of two or more of the five major cell types: serous, mucinous, endometrioid, clear, and Brenner/transitional. The second or second and third cell types must comprise alone or together at least 10% of the tumor epithelium, or, in the case of a mixed Brenner-mucinous cystic tumor, both components should be macroscopically visible. The least differentiated component determines the tumor grade (WHO, 2003)." [] xref: NCIt:C40090 is_a: EFO:0003893 ! ovarian neoplasm [Term] id: EFO:1000359 name: Malignant Pancreatic Neoplasm def: "A malignant neoplasm involving the pancreas." [https://orcid.org/0000-0002-6601-2165] def: "A primary or metastatic malignant tumor involving the pancreas. Representative examples include carcinoma and lymphoma. -- 2003" [] synonym: "Ca body of pancreas" EXACT [DOID:1793] synonym: "Ca head of pancreas" EXACT [DOID:1793] synonym: "Ca tail of pancreas" EXACT [DOID:1793] synonym: "cancer of pancreas" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of body of pancreas" EXACT [DOID:1793] synonym: "malignant neoplasm of head of pancreas" EXACT [DOID:1793] synonym: "malignant neoplasm of pancreas" EXACT [MONDO:patterns/cancer, NCIT:C9005] synonym: "malignant neoplasm of tail of pancreas" EXACT [DOID:1793] synonym: "malignant neoplasm of the pancreas" EXACT [NCIT:C9005] synonym: "malignant pancreas neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant pancreatic neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "malignant pancreatic neoplasm" EXACT [NCIT:C9005] synonym: "pancreas cancer" EXACT [MONDO:patterns/location] synonym: "pancreas neoplasm" BROAD [DOID:1793] synonym: "pancreatic cancer" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "pancreatic tumour" RELATED OMO:0003005 [] xref: DOID:1793 {source="MONDO:equivalentTo"} xref: ICD9:157.0 {source="DOID:1793"} xref: ICD9:157.1 {source="DOID:1793"} xref: ICD9:157.2 {source="DOID:1793"} xref: ICD9:157.8 {source="DOID:1793"} xref: MONDO:0009831 xref: NCIT:C9005 {source="MONDO:equivalentTo"} xref: NCIt:C9005 xref: OMIM:618680 is_a: EFO:0003860 {source="EFO:1000359", source="MONDO:Redundant", source="NCIT:C9005"} ! pancreatic neoplasm is_a: MONDO:0002516 {source="MONDO:Redundant", source="NCIT:C9005"} ! digestive system cancer relationship: disease_has_feature EFO:1000652 {source="MONDO:Wikidata"} ! acute pancreatitis property_value: exactMatch DOID:1793 property_value: exactMatch NCIT:C9005 [Term] id: EFO:1000360 name: Malignant Paraganglioma def: "A paraganglioma that metastasizes to regional or distant anatomic sites. Extraadrenal paragangliomas have a higher tendency to metastasize, as compared to pheochromocytomas. Common sites of metastasis include the lymph nodes, lungs, bones, and liver." [] xref: MedDRA:10075444 xref: NCIt:C8559 is_a: EFO:0003769 ! endocrine neoplasm [Term] id: EFO:1000361 name: Malignant Peripheral Nerve Sheath Tumor with Mesenchymal Differentiation def: "A malignant peripheral nerve sheath tumor characterized by the presence of mesenchymal differentiation. Representative example is the malignant Triton tumor which contains a rhabdomyosarcomatous component." [] xref: NCIt:C92647 is_a: EFO:0000760 ! malignant peripheral nerve sheath tumor [Term] id: EFO:1000362 name: Malignant Pleural Neoplasm def: "A primary or metastatic malignant neoplasm affecting the pleura. A representative example of primary malignant pleural neoplasm is the malignant pleural mesothelioma. A representative example of metastatic malignant neoplasm to the pleura is metastatic carcinoma that has spread to the pleura from another anatomic site." [NCIT:C3547] synonym: "cancer of pleura" EXACT [MONDO:patterns/cancer, NCIT:C3547] synonym: "cancer of the pleura" EXACT [NCIT:C3547] synonym: "malignant neoplasm of pleura" EXACT [MONDO:patterns/cancer, NCIT:C3547] synonym: "malignant neoplasm of the pleura" EXACT [NCIT:C3547] synonym: "malignant pleura neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant pleural neoplasm" EXACT [NCIT:C3547] synonym: "malignant pleural tumor" EXACT [NCIT:C3547] synonym: "malignant pleural tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of pleura" EXACT [NCIT:C3547] synonym: "malignant tumor of the pleura" EXACT [NCIT:C3547] synonym: "malignant tumour of pleura" EXACT OMO:0003005 [] synonym: "malignant tumour of the pleura" EXACT OMO:0003005 [] synonym: "neoplasm of pleura" BROAD [DOID:5158] synonym: "pleura cancer" EXACT [MONDO:patterns/location] synonym: "pleural cancer" EXACT [] {comment="preferred label from MONDO"} synonym: "pleural cancer" EXACT [MONDO:0003309, NCIT:C3547] synonym: "pleural cancer" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "pleural tumor" BROAD [DOID:5158, NCIT:C3332] synonym: "pleural tumour" BROAD OMO:0003005 [] xref: COHD:4180795 {source="MONDO:equivalentTo"} xref: DOID:5158 {source="MONDO:equivalentTo"} xref: EFO:1000362 {source="MONDO:equivalentTo"} xref: ICD10:C38.4 {source="DOID:5158", source="MONDO:equivalentTo"} xref: ICD10CM:C38.4 {source="DOID:5158", source="MONDO:equivalentTo"} xref: ICD9:163 {source="DOID:5158"} xref: ICD9:163.8 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:163.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:163.9 {source="DOID:5158", source="MONDO:equivalentTo", source="i2s"} xref: ICD9:163.9 {source="DOID:5158", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MONDO:0006294 xref: NCIT:C3547 {source="EFO:1000362", source="DOID:5158", source="MONDO:equivalentTo"} xref: SCTID:363433009 {source="DOID:5158", source="MONDO:equivalentTo"} xref: UMLS:C0153494 {source="DOID:5158", source="MONDO:equivalentTo", source="NCIT:C3547"} is_a: MONDO:0000376 {source="MONDO:Redundant"} ! respiratory system cancer is_a: MONDO:0003274 {source="NCIT:C3547"} ! thoracic cancer is_a: MONDO:0021065 {source="MONDO:Redundant", source="NCIT:C3547"} ! pleural neoplasm property_value: closeMatch http://identifiers.org/mesh/D010997 property_value: closeMatch http://identifiers.org/snomedct/187880003 property_value: closeMatch http://identifiers.org/snomedct/93966009 property_value: exactMatch DOID:5158 property_value: exactMatch DOID:5158 property_value: exactMatch http://identifiers.org/snomedct/363433009 property_value: exactMatch http://identifiers.org/snomedct/363433009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153494 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153494 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/C38.4 property_value: exactMatch NCIT:C3547 property_value: exactMatch NCIT:C3547 property_value: excluded_subClassOf MONDO:0002176 {source="DOID:5158"} property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/cancer.yaml [Term] id: EFO:1000363 name: Malignant Urinary System Neoplasm def: "A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas." [NCIT:C9297] synonym: "cancer of renal system" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of renal system" EXACT [MONDO:patterns/cancer] synonym: "malignant renal system neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant urinary system neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "malignant urinary system neoplasm" EXACT [NCIT:C9297] synonym: "malignant urinary system neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "malignant urinary tract neoplasm" EXACT [NCIT:C9297] synonym: "renal system cancer" EXACT [MONDO:patterns/location] synonym: "urinary system cancer" EXACT [MONDO:0002827] xref: DOID:3996 {source="MONDO:equivalentTo"} xref: EFO:1000363 {source="MONDO:equivalentTo"} xref: ICD10:C64.C68 {source="MONDO:equivalentTo"} xref: ICD10:C68.9 {source="DOID:3996"} xref: ICD10CM:C64-C68 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:189.9 {source="DOID:3996"} xref: MONDO:0006295 xref: NCIT:C9297 {source="EFO:1000363", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C9297 {source="EFO:1000363", source="MONDO:equivalentTo", source="exact-label-match"} xref: SCTID:448233000 {source="MONDO:equivalentTo", source="DOID:3996"} is_a: MONDO:0004992 {source="DOID:3996", source="DOID:3996/inferred", source="MONDO:Redundant"} ! cancer is_a: MONDO:0021066 {source="MONDO:Redundant", source="NCIT:C9297"} ! urinary system neoplasm property_value: closeMatch http://identifiers.org/snomedct/190132004 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0348371 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751571 property_value: exactMatch DOID:3996 property_value: exactMatch DOID:3996 property_value: exactMatch http://identifiers.org/snomedct/448233000 property_value: exactMatch http://identifiers.org/snomedct/448233000 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/C64-C68 property_value: exactMatch NCIT:C9297 property_value: exactMatch NCIT:C9297 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/cancer.yaml [Term] id: EFO:1000364 name: Mast Cell Sarcoma def: "A rare entity characterized by localized but destructive growth of a tumor consisting of highly atypical, immature mast cells.(WHO, 2001)" [NCIT:C9348] subset: ordo_disease {source="Orphanet:66661"} synonym: "mast cell sarcoma" EXACT [MONDO:0006296, MONDO:patterns/location] synonym: "mast cell sarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "mast cell sarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "mast-cell sarcoma" EXACT [MONDO:0002686] synonym: "MCS" EXACT ABBREVIATION [NCIT:C9348] synonym: "MCSL" RELATED ABBREVIATION [ONCOTREE:MCSL] synonym: "sarcoma of mast cell" EXACT [MONDO:patterns/sarcoma] xref: DOID:355 {source="MONDO:equivalentTo"} xref: EFO:1000364 {source="MONDO:equivalentTo"} xref: ICD10:C96.2 {source="ORDO:66661/ntbt", source="Orphanet:66661", source="DOID:355"} xref: ICD9:202.6 {source="DOID:355"} xref: ICDO:9740/3 {source="NCIT:C9348"} xref: MESH:D012515 {source="Orphanet:66661/e", source="MONDO:equivalentTo", source="Orphanet:66661", source="DOID:355"} xref: MESH:D012515 {source="MONDO:equivalentTo", source="ORDO:66661/e", source="Orphanet:66661", source="DOID:355"} xref: MONDO:0019024 xref: NCIT:C9348 {source="MONDO:0021036", source="EFO:1000364", source="MONDO:equivalentTo", source="DOID:355"} xref: ONCOTREE:MCSL {source="MONDO:equivalentTo"} xref: Orphanet:66661 {source="MONDO:equivalentTo"} xref: SCTID:118615008 {source="MONDO:equivalentTo", source="DOID:355"} xref: UMLS:C0036221 {source="MONDO:equivalentTo", source="NCIT:C9348", source="ORDO:66661/e", source="Orphanet:66661", source="DOID:355"} xref: UMLS:C0036221 {source="Orphanet:66661/e", source="MONDO:equivalentTo", source="NCIT:C9348", source="Orphanet:66661", source="DOID:355"} is_a: EFO:0000691 {source="DOID:355", source="EFO:1000364", source="MONDO:Redundant"} ! sarcoma is_a: EFO:0009001 {source="MESH:D012515", source="NCIT:C9348/inferred", source="ONCOTREE:MCSL", source="Orphanet:66661"} ! Mastocytosis is_a: MONDO:0000621 ! immune system cancer property_value: closeMatch http://identifiers.org/snomedct/13583002 property_value: closeMatch http://identifiers.org/snomedct/188660004 property_value: closeMatch http://identifiers.org/snomedct/188661000 property_value: closeMatch http://identifiers.org/snomedct/188670002 property_value: closeMatch http://identifiers.org/snomedct/307591004 property_value: closeMatch http://identifiers.org/snomedct/397010005 property_value: exactMatch DOID:355 property_value: exactMatch DOID:355 property_value: exactMatch http://identifiers.org/mesh/D012515 property_value: exactMatch http://identifiers.org/mesh/D012515 property_value: exactMatch http://identifiers.org/snomedct/118615008 property_value: exactMatch http://identifiers.org/snomedct/118615008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036221 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036221 property_value: exactMatch NCIT:C9348 property_value: exactMatch NCIT:C9348 property_value: exactMatch Orphanet:66661 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/sarcoma.yaml [Term] id: EFO:1000365 name: Maxillary Sinus Adenoid Cystic Carcinoma def: "An adenoid cystic carcinoma that arises from the maxillary sinus. It usually has an aggressive clinical course." [NCIT:C6239] synonym: "adenoid cystic carcinoma of maxillary sinus" RELATED [DOID:7198, NCIT:C6239] synonym: "adenoid cystic carcinoma of the maxillary sinus" EXACT [DOID:7198, NCIT:C6239] synonym: "maxillary sinus adenoid cystic carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "maxillary sinus adenoid cystic carcinoma" EXACT [MONDO:patterns/location, NCIT:C6239] synonym: "maxillary sinus adenoid cystic carcinoma" EXACT [] {comment="preferred label from MONDO"} xref: DOID:7198 {source="MONDO:equivalentTo"} xref: EFO:1000365 {source="MONDO:equivalentTo"} xref: MONDO:0006297 xref: NCIT:C6239 {source="MONDO:equivalentTo", source="EFO:1000365", source="NCIT:C6239", source="DOID:7198"} xref: UMLS:C1334643 {source="MONDO:equivalentTo", source="NCIT:C6239", source="DOID:7198"} is_a: EFO:1000454 {source="MONDO:Redundant", source="NCIT:C6239"} ! Paranasal Sinus Adenoid Cystic Carcinoma is_a: MONDO:0001748 {source="DOID:7198", source="MONDO:Redundant", source="NCIT:C6239", source="NCIT:C6239/inferred"} ! maxillary sinus carcinoma property_value: exactMatch DOID:7198 property_value: exactMatch DOID:7198 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334643 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334643 property_value: exactMatch NCIT:C6239 property_value: exactMatch NCIT:C6239 [Term] id: EFO:1000366 name: Mediastinal Malignant Germ Cell Tumor def: "An extragonadal malignant germ cell tumor that arises from the mediastinum. This category includes seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, mixed germ cell tumors, and immature malignant teratoma." [NCIT:C6446] synonym: "malignant germ cell neoplasm of mediastinum" RELATED [NCIT:C6446] synonym: "malignant germ cell neoplasm of the mediastinum" RELATED [NCIT:C6446] synonym: "malignant germ cell tumor of mediastinum" RELATED [NCIT:C6446] synonym: "malignant germ cell tumor of the mediastinum" RELATED [NCIT:C6446] synonym: "malignant germ cell tumour of mediastinum" RELATED OMO:0003005 [] synonym: "malignant germ cell tumour of the mediastinum" RELATED OMO:0003005 [] synonym: "malignant mediastinal germ cell neoplasm" RELATED [NCIT:C6446] synonym: "malignant mediastinal germ cell tumor" EXACT [] synonym: "malignant mediastinal germ cell tumour" EXACT OMO:0003005 [] synonym: "mediastinal germ cell tumor, malignant" EXACT [MONDO:patterns/malignant] synonym: "mediastinal malignant germ cell tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "mediastinal malignant germ cell tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "mediastinal malignant germ cell tumor" EXACT [NCIT:C6446] synonym: "thymic malignant germ cell tumor" EXACT [NCIT:C6446] synonym: "thymic malignant germ cell tumour" EXACT OMO:0003005 [] xref: EFO:1000366 {source="MONDO:equivalentTo"} xref: MONDO:0006298 xref: NCIT:C6446 {source="EFO:1000366", source="MONDO:equivalentTo", source="NCIT:C6446"} xref: SCTID:713293002 {source="MONDO:equivalentTo"} xref: UMLS:C1334597 {source="MONDO:equivalentTo", source="NCIT:C6446"} is_a: EFO:0007362 {source="MONDO:Redundant", source="NCIT:C6446"} ! mediastinal cancer is_a: MONDO:0003113 ! extragonadal germ cell cancer is_a: MONDO:0021067 {source="MONDO:Redundant", source="NCIT:C6446"} ! mediastinal germ cell tumor property_value: exactMatch http://identifiers.org/snomedct/713293002 property_value: exactMatch http://identifiers.org/snomedct/713293002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334597 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334597 property_value: exactMatch NCIT:C6446 property_value: exactMatch NCIT:C6446 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/malignant.yaml [Term] id: EFO:1000367 name: Mediastinal Neuroblastoma def: "A neuroblastoma arising from the mediastinum." [NCIT:C6628] synonym: "mediastinal neuroblastoma" RELATED [NCIT:C6628] synonym: "mediastinum neuroblastoma" EXACT [MONDO:patterns/location] synonym: "mediastinum neuroblastoma" EXACT [] {comment="preferred label from MONDO"} synonym: "neuroblastoma of mediastinum" EXACT [DOID:10660, NCIT:C6628] synonym: "neuroblastoma of the mediastinum" RELATED [NCIT:C6628] xref: DOID:10660 {source="MONDO:equivalentTo"} xref: MONDO:0001095 xref: NCIT:C6628 {source="MONDO:equivalentTo", source="EFO:1000367", source="DOID:10660", source="NCIT:C6628"} xref: NCIt:C6628 xref: UMLS:C1334673 {source="MONDO:equivalentTo", source="DOID:10660", source="NCIT:C6628"} is_a: EFO:0000621 {source="DOID:10660", source="EFO:1000367", source="MONDO:Redundant", source="NCIT:C6628/inferred"} ! neuroblastoma is_a: EFO:0007362 {source="DOID:10660/inferred", source="NCIT:C6628"} ! mediastinal cancer is_a: MONDO:0003098 {source="DOID:10660", source="NCIT:C6628"} ! mediastinal neural neoplasm is_a: MONDO:0021089 ! peripheral nervous system cancer property_value: exactMatch DOID:10660 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334673 property_value: exactMatch NCIT:C6628 [Term] id: EFO:1000368 name: Medullomyoblastoma with Myogenic Differentiation def: "A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma." [NCIT:C3706] synonym: "medullomyoblastoma" EXACT [DOID:3861] synonym: "medullomyoblastoma with myogenic differentiation" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "medullomyoblastoma with myogenic differentiation" EXACT [] {comment="preferred label from MONDO"} synonym: "medullomyoblastoma with myogenic differentiation" EXACT [NCIT:C3706] synonym: "MMB" RELATED ABBREVIATION [ONCOTREE:MMB] xref: DOID:3861 {source="MONDO:equivalentTo"} xref: EFO:1000368 {source="MONDO:equivalentTo"} xref: ICDO:9472/3 {source="NCIT:C3706"} xref: MONDO:0006300 xref: NCIT:C3706 {source="DOID:3861", source="MONDO:equivalentTo", source="EFO:1000368"} xref: ONCOTREE:MMB {source="MONDO:equivalentTo"} xref: UMLS:C0205833 {source="DOID:3861", source="NCIT:C3706", source="MONDO:equivalentTo"} is_a: EFO:0002939 {source="DOID:3861", source="EFO:1000368", source="NCIT:C3706"} ! medulloblastoma property_value: closeMatch http://identifiers.org/snomedct/24604009 property_value: exactMatch DOID:3861 property_value: exactMatch DOID:3861 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205833 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205833 property_value: exactMatch NCIT:C3706 property_value: exactMatch NCIT:C3706 [Term] id: EFO:1000369 name: Melanocytoma of the Eyeball def: "A benign melanocytic proliferation within or adjacent to the optic disk. It presents as a pigmented, intraocular tumor." [] xref: NCIt:C4230 is_a: EFO:0003824 ! eye neoplasm [Term] id: EFO:1000370 name: Meningeal Melanocytoma def: "A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative." [] xref: NCIt:C4662 is_a: EFO:0003851 ! meningeal neoplasm relationship: EFO:0000784 UBERON:0002360 ! has_disease_location meninx [Term] id: EFO:1000371 name: Meningioangiomatosis def: "A rare vascular malformation in the cerebral cortex and overlying leptomeninges. It can occur sporadically or in association with neurofibromatosis type 2." [] xref: NCIt:C121967 is_a: EFO:0003851 ! meningeal neoplasm [Term] id: EFO:1000372 name: Meningothelial Meningioma def: "A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present." [] xref: NCIt:C4329 is_a: EFO:0003851 ! meningeal neoplasm relationship: EFO:0000784 UBERON:0002360 ! has_disease_location meninx [Term] id: EFO:1000373 name: Metanephric Adenoma def: "A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients." [NCIT:C27253] synonym: "metanephric adenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "metanephric adenoma" EXACT [] {comment="preferred label from MONDO"} synonym: "metanephric adenoma" EXACT [NCIT:C27253] synonym: "metanephric adenoma (morphologic abnormality)" EXACT [DOID:6404] xref: DOID:6404 {source="MONDO:equivalentTo"} xref: EFO:1000373 {source="MONDO:equivalentTo"} xref: ICDO:8191/0 {source="NCIT:C27253"} xref: ICDO:8325/0 {source="NCIT:C27253"} xref: MONDO:0006301 xref: NCIT:C27253 {source="EFO:1000373", source="DOID:6404", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C27253 {source="EFO:1000373", source="DOID:6404", source="MONDO:equivalentTo", source="exact-label-match"} xref: UMLS:C1266045 {source="NCIT:C27253", source="DOID:6404", source="MONDO:equivalentTo"} is_a: MONDO:0002395 {source="DOID:6404", source="NCIT:C27253"} ! renal adenoma property_value: closeMatch http://identifiers.org/snomedct/128670007 property_value: exactMatch DOID:6404 property_value: exactMatch DOID:6404 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266045 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266045 property_value: exactMatch NCIT:C27253 property_value: exactMatch NCIT:C27253 [Term] id: EFO:1000374 name: obsolete_metaplastic Breast Carcinoma def: "A group of invasive breast carcinomas characterized by the presence of an adenocarcinomatous component which is admixed with a dominant component that is composed of squamous cells, spindle cells, or mesenchymal cells." [] xref: NCIt:C5164 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.65" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'metaplastic breast carcinoma' instead (EFO_1000040)" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_1000040 [Term] id: EFO:1000375 name: Metaplastic Meningioma def: "A WHO grade I meningioma characterized by the presence of a prominent mesenchymal component. The mesenchymal component may be osseous, cartilaginous, myxoid, lipomatous, or a mixture of mesenchymal elements." [] xref: NCIt:C6907 is_a: EFO:0003851 ! meningeal neoplasm relationship: EFO:0000784 UBERON:0002360 ! has_disease_location meninx [Term] id: EFO:1000376 name: Microcystic Meningioma def: "A WHO grade I meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid." [] xref: NCIt:C4721 is_a: EFO:0003851 ! meningeal neoplasm relationship: EFO:0000784 UBERON:0002360 ! has_disease_location meninx [Term] id: EFO:1000377 name: Micropapillary Serous Carcinoma def: "An adenocarcinoma characterized by the presence of complex micropapillary structures covered by round and cuboidal cells with a high nuclear to cytoplasmic ratio." [NCIT:P378] synonym: "micropapillary serous carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "micropapillary serous carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:1000377 {source="MONDO:equivalentTo"} xref: MONDO:0006302 xref: NCIT:C6882 {source="EFO:1000377", source="MONDO:equivalentTo"} is_a: EFO:0000228 {source="EFO:1000377", source="NCIT:C6882"} ! adenocarcinoma property_value: exactMatch NCIT:C6882 property_value: exactMatch NCIT:C6882 [Term] id: EFO:1000378 name: Middle Ear Squamous Cell Carcinoma def: "A rare squamous cell carcinoma that arises from the middle ear." [NCIT:C6086] synonym: "epidermoid carcinoma of middle Ear" EXACT [NCIT:C6086] synonym: "epidermoid carcinoma of the middle Ear" EXACT [NCIT:C6086] synonym: "epidermoid carcinoma of the middle ear" EXACT [DOID:5526, NCIT:C6086] synonym: "middle Ear epidermoid carcinoma" EXACT [NCIT:C6086] synonym: "middle ear squamous cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "middle ear squamous cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "middle ear squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C6086] synonym: "squamous cell carcinoma of middle Ear" EXACT [NCIT:C6086] synonym: "squamous cell carcinoma of middle ear" RELATED [DOID:5526] synonym: "squamous cell carcinoma of the middle Ear" EXACT [NCIT:C6086] xref: DOID:5526 {source="MONDO:equivalentTo"} xref: EFO:1000378 {source="MONDO:equivalentTo"} xref: MONDO:0006303 xref: NCIT:C6086 {source="DOID:5526", source="MONDO:equivalentTo", source="EFO:1000378", source="exact-label-match"} xref: NCIT:C6086 {source="DOID:5526", source="MONDO:equivalentTo", source="EFO:1000378", source="MONDO:exact-label-match"} xref: UMLS:C1334762 {source="NCIT:C6086", source="DOID:5526", source="MONDO:equivalentTo"} is_a: EFO:0000181 {source="EFO:1000378", source="MONDO:Redundant", source="NCIT:C6086/inferred"} ! head and neck squamous cell carcinoma is_a: MONDO:0003190 {source="DOID:5526", source="MONDO:Redundant", source="NCIT:C6086"} ! middle ear carcinoma property_value: exactMatch DOID:5526 property_value: exactMatch DOID:5526 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334762 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334762 property_value: exactMatch NCIT:C6086 property_value: exactMatch NCIT:C6086 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/squamous_cell_carcinoma.yaml [Term] id: EFO:1000379 name: Minor Salivary Gland Adenocarcinoma def: "An adenocarcinoma that arises from the minor salivary glands." [NCIT:C5948] synonym: "adenocarcinoma of minor salivary gland" EXACT [NCIT:C5948] synonym: "adenocarcinoma of the minor salivary gland" EXACT [NCIT:C5948] synonym: "minor salivary gland adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "minor salivary gland adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:1000379 {source="MONDO:equivalentTo"} xref: MONDO:0006304 xref: NCIT:C5948 {source="MONDO:equivalentTo", source="EFO:1000379", source="MONDO:exact-label-match"} xref: NCIT:C5948 {source="MONDO:equivalentTo", source="EFO:1000379", source="exact-label-match"} xref: UMLS:C1334768 {source="NCIT:C5948", source="MONDO:equivalentTo"} is_a: EFO:0000228 {source="EFO:1000379", source="MONDO:Redundant", source="NCIT:C5948/inferred"} ! adenocarcinoma is_a: MONDO:0045069 ! minor salivary gland carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334768 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334768 property_value: exactMatch NCIT:C5948 property_value: exactMatch NCIT:C5948 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/adenocarcinoma.yaml [Term] id: EFO:1000380 name: Mixed Cell Uveal Melanoma def: "A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells." [NCIT:C35781] synonym: "mixed cell uveal melanoma" EXACT [] {comment="preferred label from MONDO"} synonym: "mixed cell uveal melanoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "mixed cell uveal melanoma" EXACT [MONDO:0006305, NCIT:C35781] xref: DOID:6522 {source="MONDO:equivalentTo"} xref: EFO:1000380 {source="MONDO:equivalentTo"} xref: MONDO:0003910 xref: NCIT:C35781 {source="DOID:6522", source="MONDO:equivalentTo", source="EFO:1000380"} xref: UMLS:C1334782 {source="DOID:6522", source="NCIT:C35781", source="MONDO:equivalentTo"} is_a: EFO:1000616 {source="DOID:6522", source="NCIT:C35781"} ! Uveal Melanoma property_value: exactMatch DOID:6522 property_value: exactMatch DOID:6522 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334782 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334782 property_value: exactMatch NCIT:C35781 property_value: exactMatch NCIT:C35781 [Term] id: EFO:1000381 name: Mixed Epithelial Stromal Tumor of the Kidney def: "A rare, usually benign neoplasm that arises from the kidney. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria." [] xref: NCIt:C37263 is_a: EFO:0003865 ! kidney neoplasm [Term] id: EFO:1000382 name: Mixed Lobular and Ductal Breast Carcinoma def: "A breast carcinoma characterized by the presence of a lobular and a ductal component. The ductal component comprises less than 50 percent of the tumor." [NCIT:C5160] synonym: "breast mixed ductal and lobular carcinoma" RELATED [ONCOTREE:MDLC] synonym: "ductal and lobular carcinoma" EXACT [NCIT:C5160] synonym: "mixed ductal and lobular breast carcinoma" EXACT [NCIT:C5160] synonym: "mixed ductal and lobular carcinoma of breast" EXACT [NCIT:C5160] synonym: "mixed ductal and lobular carcinoma of the breast" EXACT [NCIT:C5160] synonym: "mixed lobular and ductal breast carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "mixed lobular and ductal breast carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "mixed lobular and ductal breast carcinoma" EXACT [NCIT:C5160] synonym: "mixed lobular and ductal carcinoma" EXACT [NCIT:C5160] synonym: "mixed lobular and ductal carcinoma of breast" EXACT [NCIT:C5160] synonym: "mixed lobular and ductal carcinoma of the breast" EXACT [NCIT:C5160] xref: EFO:1000382 {source="MONDO:equivalentTo"} xref: ICD9:174.8 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:174.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MONDO:0006306 xref: NCIT:C5160 {source="EFO:1000382", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C5160 {source="EFO:1000382", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:MDLC {source="MONDO:equivalentTo"} xref: SCTID:444604002 {source="MONDO:equivalentTo"} xref: UMLS:C0334384 {source="MONDO:equivalentTo"} is_a: EFO:0000304 {source="EFO:1000382", source="NCIT:C5160"} ! breast adenocarcinoma is_a: EFO:1000356 {source="NCIT:C5160"} ! Malignant Mixed Neoplasm property_value: closeMatch http://linkedlifedata.com/resource/umls/id/CL007210 property_value: exactMatch http://identifiers.org/snomedct/444604002 property_value: exactMatch http://identifiers.org/snomedct/444604002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334384 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334384 property_value: exactMatch NCIT:C5160 property_value: exactMatch NCIT:C5160 [Term] id: EFO:1000383 name: Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma def: "An infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. Unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry." [NCIT:C45927] synonym: "mixed GH-PRL cell adenoma" EXACT [NCIT:C45927] synonym: "mixed Somatolactotrope adenoma" EXACT [NCIT:C45927] synonym: "Mixed somatotroph and lactotroph adenoma" EXACT [NCIT:C45927] synonym: "mixed somatotroph-lactotroph adenoma" EXACT [NCIT:C45927] synonym: "mixed somatotroph-lactotroph pituitary gland adenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "mixed somatotroph-lactotroph pituitary gland adenoma" EXACT [NCIT:C45927] synonym: "mixed somatotroph-lactotroph pituitary gland adenoma" EXACT [] {comment="preferred label from MONDO"} xref: EFO:1000383 {source="MONDO:equivalentTo"} xref: MONDO:0006307 xref: NCIT:C45927 {source="EFO:1000383", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C45927 {source="EFO:1000383", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1709052 {source="NCIT:C45927", source="MONDO:equivalentTo"} is_a: EFO:0000232 {source="EFO:1000383", source="NCIT:C45927/inferred"} ! adenoma is_a: EFO:0001379 ! endocrine system disease is_a: EFO:0009386 ! central nervous system disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709052 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709052 property_value: exactMatch NCIT:C45927 property_value: exactMatch NCIT:C45927 [Term] id: EFO:1000384 name: Mixed Tumor of the Salivary Gland def: "A benign or malignant neoplasm that arises from the salivary glands. It is characterized by the presence of epithelial and mesenchymal elements. This category includes pleomorphic adenoma, carcinoma ex pleomorphic adenoma, and carcinosarcoma." [] def: "A neoplasm (disease) that involves the saliva-secreting gland." [MONDO:patterns/location] synonym: "neoplasm of saliva-secreting gland" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of salivary gland" EXACT [NCIT:C3361] synonym: "neoplasm of the salivary gland" EXACT [NCIT:C3361] synonym: "saliva-secreting gland neoplasm" EXACT [] synonym: "saliva-secreting gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "saliva-secreting gland tumor" EXACT [MONDO:patterns/neoplasm] synonym: "saliva-secreting gland tumour" EXACT OMO:0003005 [] synonym: "salivary gland neoplasm" EXACT [NCIT:C3361] synonym: "salivary gland tumor" EXACT [NCIT:C3361] synonym: "salivary gland tumour" EXACT OMO:0003005 [] synonym: "tumor of saliva-secreting gland" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of salivary gland" EXACT [] {comment="preferred label from MONDO"} synonym: "tumor of the salivary gland" EXACT [NCIT:C3361] synonym: "tumour of saliva-secreting gland" EXACT OMO:0003005 [] synonym: "tumour of the salivary gland" EXACT OMO:0003005 [] xref: EFO:0003826 {source="MONDO:equivalentTo"} xref: MONDO:0021357 xref: NCIT:C3361 {source="MONDO:equivalentTo"} xref: NCIt:C35691 xref: SCTID:235132004 {source="MONDO:equivalentTo"} is_a: EFO:0003826 ! salivary gland neoplasm is_a: EFO:0005950 {source="EFO:0003826/inferred", source="MONDO:Redundant", source="NCIT:C3361"} ! head and neck neoplasia is_a: EFO:0008549 ! digestive system neoplasm is_a: EFO:0008581 {source="EFO:0003826", source="MONDO:Redundant", source="NCIT:C3361"} ! salivary gland disease property_value: exactMatch http://identifiers.org/snomedct/235132004 property_value: exactMatch NCIT:C3361 [Term] id: EFO:1000385 name: Mixed Tumor of the Skin alt_id: MONDO:0006308 def: "A rare, benign, slow-growing and painless neoplasm of sweat glands. It usually arises in the head and neck. It is characterized by the presence of a mesenchymal chondroid stroma, fibrosis, and epithelial structures." [NCIT:P378] synonym: "benign mixed tumor of skin" EXACT [NCIT:C4474] synonym: "benign mixed tumor of skin (chondroid syringoma)" EXACT [NCIT:C4474] synonym: "benign mixed tumor of the skin" EXACT [NCIT:C4474] synonym: "benign mixed tumor of the skin (chondroid syringoma)" EXACT [NCIT:C4474] synonym: "benign mixed tumour of skin" EXACT OMO:0003005 [] synonym: "benign mixed tumour of skin (chondroid syringoma)" EXACT OMO:0003005 [] synonym: "benign mixed tumour of the skin" EXACT OMO:0003005 [] synonym: "benign mixed tumour of the skin (chondroid syringoma)" EXACT OMO:0003005 [] synonym: "chondroid syringoma" EXACT [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl2/, NCIT:C4474] synonym: "eccrine mixed tumor" EXACT [DOID:2079] synonym: "eccrine mixed tumor (morphologic abnormality)" EXACT [DOID:2079] synonym: "eccrine mixed tumor of skin" EXACT [] {comment="preferred label from MONDO"} synonym: "eccrine mixed tumor of skin" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "eccrine mixed tumour" EXACT OMO:0003005 [] synonym: "eccrine mixed tumour (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "eccrine sweat gland mixed neoplasm" EXACT [MONDO:patterns/location] synonym: "mixed eccrine neoplasm of the skin" EXACT [DOID:2079, NCIT:C4474] synonym: "mixed tumor of the skin (chondroid syringoma)" EXACT [NCIT:C4474] synonym: "mixed tumour of the skin (chondroid syringoma)" EXACT OMO:0003005 [] xref: DOID:2079 {source="MONDO:equivalentTo"} xref: EFO:1000385 {source="MONDO:equivalentTo"} xref: MONDO:0002200 xref: NCIT:C4474 {source="DOID:2079", source="EFO:1000385", source="MONDO:equivalentTo"} xref: SCTID:254720009 {source="DOID:2079", source="MONDO:equivalentTo"} xref: UMLS:C0346026 {source="DOID:2079", source="NCIT:C4474", source="MONDO:equivalentTo"} is_a: MONDO:0002090 {source="DOID:2079", source="MONDO:Redundant"} ! eccrine sweat gland neoplasm is_a: MONDO:0021043 {source="MONDO:Redundant", source="NCIT:C4474"} ! mixed neoplasm property_value: closeMatch http://identifiers.org/snomedct/400144002 property_value: exactMatch DOID:2079 property_value: exactMatch DOID:2079 property_value: exactMatch http://identifiers.org/snomedct/254720009 property_value: exactMatch http://identifiers.org/snomedct/254720009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346026 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346026 property_value: exactMatch NCIT:C4474 property_value: exactMatch NCIT:C4474 [Term] id: EFO:1000386 name: Mucinous Gastric Adenocarcinoma def: "A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools." [NCIT:C5248] synonym: "MSTAD" RELATED ABBREVIATION [ONCOTREE:MSTAD] synonym: "mucinous adenocarcinoma of stomach" EXACT [NCIT:C5248] synonym: "mucinous adenocarcinoma of the stomach" EXACT [DOID:3716, NCIT:C5248] synonym: "mucinous gastric adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "mucinous gastric adenocarcinoma" EXACT [NCIT:C5248] synonym: "mucinous gastric adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "mucinous stomach adenocarcinoma" EXACT [MONDO:0002753, NCIT:C5248] synonym: "stomach mucinous adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:3716 {source="MONDO:equivalentTo"} xref: EFO:1000386 {source="MONDO:equivalentTo"} xref: MONDO:0006309 xref: NCIT:C5248 {source="EFO:1000386", source="MONDO:equivalentTo", source="DOID:3716"} xref: ONCOTREE:MSTAD {source="MONDO:equivalentTo"} xref: UMLS:C1334809 {source="MONDO:equivalentTo", source="NCIT:C5248", source="DOID:3716"} is_a: EFO:0000197 {source="EFO:1000386", source="MONDO:Redundant", source="NCIT:C5248"} ! mucinous carcinoma is_a: EFO:0000503 {source="DOID:3716/inferred", source="EFO:1000386", source="MONDO:Redundant", source="NCIT:C5248/inferred", source="ONCOTREE:MSTAD"} ! gastric adenocarcinoma property_value: exactMatch DOID:3716 property_value: exactMatch DOID:3716 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334809 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334809 property_value: exactMatch NCIT:C5248 property_value: exactMatch NCIT:C5248 property_value: excluded_subClassOf MONDO:0005017 {source="DOID:3716"} [Term] id: EFO:1000387 name: obsolete_mucinuos carcinoma property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.100" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication\nUse: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0000197 [Term] id: EFO:1000388 name: Myelodysplastic/Myeloproliferative Neoplasm def: "A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation." [NCIT:C27262] synonym: "MDS-MPD" BROAD [NCIT:C27262] synonym: "MDS-MPD" EXACT [NCIT:C27262] synonym: "MDS/MPD" BROAD [NCIT:C27262] synonym: "MDS/MPD" EXACT [NCIT:C27262] synonym: "MDS/MPN" EXACT [NCIT:C27262, ONCOTREE:MDS%2FMPN] synonym: "MPD-MDS" EXACT [NCIT:C27262] synonym: "MPD/MDS" EXACT [NCIT:C27262] synonym: "myelodysplastic myeloproliferative cancer" EXACT [DOID:4972] synonym: "myelodysplastic myeloproliferative disease" BROAD [DOID:4972] synonym: "myelodysplastic myeloproliferative disease" EXACT [DOID:4972] synonym: "myelodysplastic/myeloproliferative disease" BROAD [NCIT:C27262] synonym: "myelodysplastic/myeloproliferative disease" EXACT [NCIT:C27262] synonym: "myelodysplastic/myeloproliferative diseases" BROAD [NCIT:C27262] synonym: "myelodysplastic/myeloproliferative diseases" EXACT [NCIT:C27262] synonym: "myelodysplastic/myeloproliferative disorder" BROAD [NCIT:C27262] synonym: "myelodysplastic/myeloproliferative disorder" EXACT [NCIT:C27262] synonym: "myelodysplastic/myeloproliferative disorders" BROAD [NCIT:C27262] synonym: "myelodysplastic/myeloproliferative disorders" EXACT [NCIT:C27262] synonym: "myelodysplastic/myeloproliferative Neoplasm" EXACT [NCIT:C27262] synonym: "myelodysplastic/myeloproliferative Neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "myelodysplastic/myeloproliferative neoplasm" EXACT [NCIT:C27262] synonym: "myelodysplastic/myeloproliferative neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "myelodysplastic/myeloproliferative neoplasms" EXACT [ONCOTREE:MDS%2FMPN] synonym: "myeloproliferative/myelodysplastic disorders" BROAD [NCIT:C27262] synonym: "myeloproliferative/myelodysplastic disorders" EXACT [NCIT:C27262] synonym: "myeloproliferative/myelodysplastic syndromes" BROAD [DOID:4972, NCIT:C27262] synonym: "myeloproliferative/myelodysplastic syndromes" EXACT [DOID:4972, NCIT:C27262] xref: DOID:4972 {source="MONDO:equivalentTo"} xref: EFO:1000388 {source="MONDO:equivalentTo"} xref: ICDO:9975/3 {source="NCIT:C27262"} xref: MESH:D054437 {source="DOID:4972", source="MONDO:relatedTo"} xref: MONDO:0006311 xref: NCIT:C27262 {source="DOID:4972", source="EFO:1000388", source="MONDO:equivalentTo"} xref: ONCOTREE:MDS%2FMPN {source="MONDO:equivalentTo"} xref: SCTID:445738007 {source="DOID:4972", source="MONDO:equivalentTo"} is_a: EFO:0002428 ! chronic myeloproliferative disorder is_a: EFO:0004251 ! myeloproliferative disorder is_a: MONDO:0023603 ! hereditary disorder of connective tissue property_value: closeMatch http://identifiers.org/snomedct/397336008 property_value: exactMatch DOID:4972 property_value: exactMatch DOID:4972 property_value: exactMatch http://identifiers.org/snomedct/445738007 property_value: exactMatch http://identifiers.org/snomedct/445738007 property_value: exactMatch NCIT:C27262 property_value: exactMatch NCIT:C27262 [Term] id: EFO:1000389 name: Myofibroma def: "A benign, localized, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma." [NCIT:C7052] synonym: "infantile hemangiopericytoma" EXACT [NCIT:C7052] synonym: "infantile hemangiopericytoma" RELATED [NCIT:C7052] synonym: "lipoleiomyoma" EXACT [DOID:4386] synonym: "myofibroma" EXACT [DOID:4386, NCIT:C7052] synonym: "myofibroma" EXACT [] {comment="preferred label from MONDO"} synonym: "myofibroma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "myofibroma (morphologic abnormality)" EXACT [DOID:4386] xref: DOID:4386 {source="MONDO:equivalentTo"} xref: EFO:1000389 {source="MONDO:equivalentTo"} xref: ICDO:8824/0 {source="NCIT:C7052"} xref: MESH:D047708 {source="DOID:4386", source="MONDO:equivalentTo"} xref: MONDO:0006312 xref: NCIT:C7052 {source="MONDO:equivalentTo", source="EFO:1000389", source="MONDO:exact-label-match"} xref: NCIT:C7052 {source="MONDO:equivalentTo", source="EFO:1000389", source="exact-label-match"} xref: ONCOTREE:MF {source="MONDO:equivalentTo"} xref: UMLS:C1266121 {source="DOID:4386", source="MONDO:equivalentTo", source="NCIT:C7052"} is_a: MONDO:0001572 {source="DOID:4386", source="MONDO:Entailed"} ! leiomyoma is_a: MONDO:0003342 {source="NCIT:C7052"} ! benign perivascular tumor property_value: closeMatch http://identifiers.org/snomedct/128917003 property_value: closeMatch http://identifiers.org/snomedct/44598004 property_value: exactMatch DOID:4386 property_value: exactMatch DOID:4386 property_value: exactMatch http://identifiers.org/mesh/D047708 property_value: exactMatch http://identifiers.org/mesh/D047708 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266121 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266121 property_value: exactMatch NCIT:C7052 property_value: exactMatch NCIT:C7052 property_value: excluded_subClassOf MONDO:0000385 {source="DOID:4386"} property_value: excluded_subClassOf MONDO:0000654 {source="DOID:4386"} [Term] id: EFO:1000390 name: Nabothian Cyst def: "A benign, mucus-filled cervical cyst that occurs when mucus-secreting columnar epithelial cells are covered with squamous epithelium." [NCIT:P378] comment: Editor note: check this synonym: "nabothian cyst" EXACT [] {comment="preferred label from MONDO"} synonym: "nabothian cyst" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:1000390 {source="MONDO:equivalentTo"} xref: MONDO:0006313 xref: NCIT:C34835 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="EFO:1000390"} xref: SCTID:24565001 {source="MONDO:equivalentTo"} xref: UMLS:C0027269 {source="MONDO:equivalentTo", source="NCIT:C34835"} xref: Wikipedia:Nabothian_cyst {source="EFO:1000390"} is_a: MONDO:0021230 ! uterine cervix neoplasm property_value: exactMatch http://identifiers.org/snomedct/24565001 property_value: exactMatch http://identifiers.org/snomedct/24565001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027269 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027269 property_value: exactMatch NCIT:C34835 property_value: exactMatch NCIT:C34835 [Term] id: EFO:1000391 name: Nasal Cavity Polyp def: "A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection." [NCIT:C3256] synonym: "nasal cavity polyp" EXACT [] {comment="preferred label from MONDO"} synonym: "nasal cavity polyp" EXACT [MONDO:patterns/location, NCIT:C3256] synonym: "nasal polyp" EXACT [NCIT:C3256] synonym: "polyp of nasal cavity" EXACT [NCIT:C3256] synonym: "polyp of the nasal cavity" EXACT [NCIT:C3256] xref: ICD10:J33 xref: ICD9:471.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:471.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10028754 xref: MedDRA:10028756 xref: MedDRA:10036138 xref: MESH:D009298 {source="MONDO:equivalentTo"} xref: MONDO:0006314 xref: NCIT:C3256 {source="MONDO:equivalentTo", source="EFO:1000391"} xref: NCIt:C3256 xref: SCTID:52756005 {source="MONDO:equivalentTo"} xref: UMLS:C0027430 {source="MONDO:equivalentTo", source="NCIT:C3256"} is_a: EFO:0000662 {source="EFO:1000391", source="MESH:D009298", source="MONDO:Redundant", source="NCIT:C3256"} ! polyp is_a: MONDO:0002232 {source="MONDO:Redundant", source="NCIT:C3256"} ! nasal cavity disorder property_value: exactMatch http://identifiers.org/mesh/D009298 property_value: exactMatch http://identifiers.org/snomedct/52756005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027430 property_value: exactMatch NCIT:C3256 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1000392 name: Neoplastic Medium-Sized B-Lymphocyte with Basophilic Cytoplasm def: "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C37005&ns=NCI_Thesaurus" [] xref: NCIt:C37005 is_a: EFO:0000540 ! immune system disease is_a: EFO:0000616 ! neoplasm relationship: EFO:0000784 CL:0000945 ! has_disease_location lymphocyte of B lineage [Term] id: EFO:1000393 name: Neuroblastic Tumor def: "A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells." [NCIT:C6963] synonym: "neuroblastic tumor" EXACT [NCIT:C6963] synonym: "neuroblastic tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "neuroblastic tumor" EXACT [] {comment="preferred label from MONDO"} xref: EFO:1000393 {source="MONDO:equivalentTo"} xref: MONDO:0006316 xref: NCIT:C6963 {source="EFO:1000393", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C6963 {source="EFO:1000393", source="MONDO:equivalentTo", source="exact-label-match"} xref: UMLS:C1334953 {source="MONDO:equivalentTo", source="NCIT:C6963"} is_a: EFO:0005235 {source="EFO:1000393", source="NCIT:C6963"} ! primitive neuroectodermal tumor property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334953 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334953 property_value: exactMatch NCIT:C6963 property_value: exactMatch NCIT:C6963 [Term] id: EFO:1000394 name: Neurothekeoma def: "A benign neoplasm arising from nerve sheaths. It is characterized by the presence of a myxoid stroma." [NCIT:C7018] synonym: "nerve sheath Myxoma" EXACT [NCIT:C7018] synonym: "neurothekeoma" EXACT [] {comment="preferred label from MONDO"} synonym: "neurothekeoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "neurothekeoma" EXACT [NCIT:C7018] xref: EFO:1000394 {source="MONDO:equivalentTo"} xref: ICDO:9562/0 {source="NCIT:C7018"} xref: MESH:D018321 {source="MONDO:equivalentTo"} xref: MONDO:0006317 xref: NCIT:C7018 {source="EFO:1000394", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C7018 {source="EFO:1000394", source="MONDO:equivalentTo", source="exact-label-match"} xref: UMLS:C0206730 {source="MONDO:equivalentTo", source="NCIT:C7018"} is_a: MONDO:0002547 {source="MESH:D018321", source="NCIT:C7018"} ! nerve sheath neoplasm property_value: exactMatch http://identifiers.org/mesh/D018321 property_value: exactMatch http://identifiers.org/mesh/D018321 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206730 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206730 property_value: exactMatch NCIT:C7018 property_value: exactMatch NCIT:C7018 [Term] id: EFO:1000395 name: Nevus of Ito def: "Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and may in rare occasions occur together with the latter." [Orphanet:263432] subset: ordo_disease {source="Orphanet:263432"} synonym: "hypomelanosis of Ito" EXACT [NCIT:C7582] synonym: "hypomelanosis of Ito" RELATED [NCIT:C7582] synonym: "Ito's Nevus" EXACT [NCIT:C7582] synonym: "nevi of Ito" EXACT [GARD:0010830] synonym: "nevi of Ito" RELATED [GARD:0010830] synonym: "Nevus fuscocaeruleus acromiodeltoideus" EXACT [Orphanet:263432] synonym: "nevus fuscocaeruleus acromiodeltoideus" EXACT [Orphanet:263432] synonym: "nevus of Ito" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "nevus of Ito" EXACT [] {comment="preferred label from MONDO"} xref: EFO:1000395 {source="MONDO:equivalentTo"} xref: GARD:0010830 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10:D22.6 {source="ORDO:263432/ntbt", source="Orphanet:263432"} xref: MONDO:0016985 xref: NCIT:C7582 {source="EFO:1000395", source="MONDO:equivalentTo"} xref: Orphanet:263432 {source="MONDO:equivalentTo"} xref: UMLS:C0022283 {source="NCIT:C7582", source="ORDO:263432/e", source="MONDO:equivalentTo", source="Orphanet:263432"} xref: UMLS:C0022283 {source="NCIT:C7582", source="MONDO:equivalentTo", source="Orphanet:263432", source="Orphanet:263432/e"} xref: UMLS:CN202288 {source="MONDO:equivalentTo"} is_a: EFO:0009675 {source="Orphanet:263432"} ! melanocytic nevus relationship: disease_shares_features_of EFO:1000396 ! Nevus of Ota relationship: has_characteristic MONDO:0021136 {source="MONDO:0017414"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022283 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022283 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202288 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202288 property_value: exactMatch NCIT:C7582 property_value: exactMatch NCIT:C7582 property_value: exactMatch Orphanet:263432 [Term] id: EFO:1000396 name: Nevus of Ota def: "Nevus of Ota is an oculodermal melanocytosis more commonly found in Asian and African populations, usually present at birth and characterized by a usually unilateral, bluish gray, patchy, speckled pigmentation (that may progressively enlarge and darken) affecting the skin of the face along the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve (periorbital region, temple, forehead, malar area, nose). In 2/3 cases the ipsilateral sclera is affected. Nevus of Ota usually remains stable once adulthood is reached but an increased risk of glaucoma and uveal melanoma may be observed. Extracutaneous lesions may also occur in cornea, retina, tympanum, nasal mucosa, pharynx, palate. Nevus of Ota occurs as solitary conditions but seldom may occur together with the nevus of Ito or nevus spilus." [Orphanet:263425] subset: ordo_disease {source="Orphanet:263425"} synonym: "Nevus fusculoceruleus ophthalmomaxillaris" EXACT [Orphanet:263425] synonym: "nevus of Ota" EXACT [] {comment="preferred label from MONDO"} synonym: "nevus of Ota" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "oculocutaneous melanocytic Nevus" EXACT [NCIT:C7583] synonym: "oculodermal melanocytosis" EXACT [NCIT:C7583] synonym: "Ota's Nevus" EXACT [NCIT:C7583] xref: EFO:1000396 {source="MONDO:equivalentTo"} xref: ICD10:D22.3 {source="ORDO:263425/ntbt", source="Orphanet:263425"} xref: ICD9:224.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:224.0 {source="MONDO:relatedTo", source="i2s"} xref: MedDRA:10051713 {source="ORDO:263425/e", source="Orphanet:263425"} xref: MedDRA:10051713 {source="Orphanet:263425/e", source="Orphanet:263425"} xref: MESH:D009507 {source="MONDO:equivalentTo"} xref: MONDO:0016984 xref: NCIT:C7583 {source="EFO:1000396", source="MONDO:equivalentTo"} xref: Orphanet:263425 {source="MONDO:equivalentTo"} xref: SCTID:414929001 {source="MONDO:equivalentTo"} xref: UMLS:C0027961 {source="NCIT:C7583", source="MONDO:equivalentTo", source="ORDO:263425/e", source="Orphanet:263425"} xref: UMLS:C0027961 {source="NCIT:C7583", source="Orphanet:263425/e", source="MONDO:equivalentTo", source="Orphanet:263425"} is_a: EFO:0009675 {source="Orphanet:263425"} ! melanocytic nevus relationship: has_characteristic MONDO:0021136 {source="MONDO:0017414"} ! rare property_value: closeMatch http://identifiers.org/meddra/10051713 property_value: exactMatch http://identifiers.org/meddra/10051713 property_value: exactMatch http://identifiers.org/mesh/D009507 property_value: exactMatch http://identifiers.org/mesh/D009507 property_value: exactMatch http://identifiers.org/snomedct/414929001 property_value: exactMatch http://identifiers.org/snomedct/414929001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027961 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027961 property_value: exactMatch NCIT:C7583 property_value: exactMatch NCIT:C7583 property_value: exactMatch Orphanet:263425 [Term] id: EFO:1000397 name: Non-Cutaneous Melanoma def: "Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ)" [NCIT:C8711] synonym: "extracutaneous melanoma" EXACT [NCIT:C8711] synonym: "non-cutaneous melanoma" EXACT [NCIT:C8711] synonym: "non-cutaneous melanoma" EXACT [] {comment="preferred label from MONDO"} synonym: "non-cutaneous melanoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:1000397 {source="MONDO:equivalentTo"} xref: MONDO:0006320 xref: NCIT:C8711 {source="EFO:1000397", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C8711 {source="EFO:1000397", source="MONDO:equivalentTo", source="exact-label-match"} xref: UMLS:C1334974 {source="MONDO:equivalentTo"} is_a: EFO:0000756 {source="EFO:1000397", source="NCIT:C8711"} ! melanoma property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0854899 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334974 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334974 property_value: exactMatch NCIT:C8711 property_value: exactMatch NCIT:C8711 [Term] id: EFO:1000398 name: Non-Functional Pancreatic Neuroendocrine Tumor def: "A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome." [] xref: NCIt:C45837 is_a: EFO:0003769 ! endocrine neoplasm is_a: EFO:0003860 ! pancreatic neoplasm [Term] id: EFO:1000399 name: Non-Functioning Adrenal Cortex Adenoma def: "An adenoma of the adrenal cortex characterized by the absence of a hormonal syndrome or symptoms suggestive of adrenal disease." [NCIT:C48458] synonym: "adrenal cortex non-functioning endocrine neoplasm" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "adrenal cortical incidentaloma" EXACT [NCIT:C48458] synonym: "non-functioning adrenal cortex adenoma" EXACT [NCIT:C48458] synonym: "non-functioning adrenal cortex adenoma" EXACT [] {comment="preferred label from MONDO"} synonym: "non-functioning adrenal cortex adenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "non-functioning adrenal cortical adenoma" EXACT [NCIT:C48458] synonym: "non-functioning endocrine neoplasm of adrenal cortex" EXACT [MONDO:design_pattern] synonym: "nonfunctional adrenal cortex adenoma" EXACT [NCIT:C48458] xref: EFO:1000399 {source="MONDO:equivalentTo"} xref: MONDO:0006321 xref: NCIT:C48458 {source="EFO:1000399", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C48458 {source="EFO:1000399", source="MONDO:equivalentTo", source="exact-label-match"} xref: UMLS:C1709240 {source="MONDO:equivalentTo", source="NCIT:C48458"} is_a: EFO:0003104 {source="MONDO:Redundant", source="NCIT:C48458"} ! adrenocortical adenoma is_a: MONDO:0021119 {source="MONDO:Redundant", source="NCIT:C48458"} ! non-functioning endocrine neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709240 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709240 property_value: exactMatch NCIT:C48458 property_value: exactMatch NCIT:C48458 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:1000400 name: Non-Neoplastic Bile Duct Disorder def: "A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia." [NCIT:C35774] synonym: "non-neoplastic bile duct disorder" EXACT [NCIT:C35774] synonym: "non-neoplastic bile duct disorder" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0006322 xref: NCIT:C35774 {source="MONDO:equivalentTo", source="EFO:1000400", source="MONDO:exact-label-match"} xref: NCIt:C35774 xref: UMLS:C3275160 {source="MONDO:equivalentTo", source="NCIT:C35774"} is_a: EFO:0001379 {source="EFO:1000400"} ! endocrine system disease is_a: MONDO:0002887 {source="NCIT:C35774"} ! bile duct disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3275160 property_value: exactMatch NCIT:C35774 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1000401 name: Non-Seminomatous Lesion def: "A group of testicular cancers that begin in the germ cells (cells that give rise to sperm). Nonseminomas are identified by the type of cell in which they begin and include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac carcinoma." [EFO:1000401] synonym: "non-seminomatous lesion" EXACT [] {comment="preferred label from MONDO"} synonym: "non-seminomatous lesion" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:1000401 {source="MONDO:equivalentTo"} xref: MONDO:0006323 is_a: EFO:0000616 {source="EFO:1000401"} ! neoplasm is_a: EFO:0009601 ! testicular disease property_value: exactMatch NCIT:C36127 [Term] id: EFO:1000402 name: Normal Breast-Like Subtype of Breast Carcinoma def: "A biologic subset of breast carcinoma defined by high expression of many genes expressed by adipose and other non-epithelial tissues." [NCIT:C53557] synonym: "normal breast-like subtype of breast cancer" EXACT [NCIT:C53557] synonym: "normal breast-like subtype of breast carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "normal breast-like subtype of breast carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "normal breast-like subtype of breast carcinoma" EXACT [NCIT:C53557] xref: EFO:1000402 {source="MONDO:equivalentTo"} xref: MONDO:0006324 xref: NCIT:C53557 {source="MONDO:equivalentTo", source="EFO:1000402", source="exact-label-match"} xref: NCIT:C53557 {source="MONDO:equivalentTo", source="EFO:1000402", source="MONDO:exact-label-match"} xref: UMLS:C3642471 {source="MONDO:equivalentTo", source="NCIT:C53557"} is_a: EFO:1000143 {source="NCIT:C53557"} ! Breast Carcinoma by Gene Expression Profile property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3642471 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3642471 property_value: exactMatch NCIT:C53557 property_value: exactMatch NCIT:C53557 [Term] id: EFO:1000403 name: Ocular Melanoma def: "A melanoma that arises from the structures of the eye or ocular adnexa." [NCIT:C8562] synonym: "eye melanoma" EXACT [DOID:1752, NCIT:C8562] synonym: "eye melanoma (disease)" EXACT [MONDO:patterns/location] synonym: "eyeball of camera-type eye melanoma" EXACT [] synonym: "eyeball of camera-type eye melanoma (disease)" EXACT [MONDO:patterns/location] synonym: "melanoma (disease) of eyeball of camera-type eye" EXACT [] synonym: "melanoma of eye" EXACT [DOID:1752, NCIT:C8562] synonym: "melanoma of the eye" EXACT [NCIT:C8562] synonym: "ocular melanoma" EXACT [NCIT:C8562] synonym: "ocular melanoma" EXACT [] {comment="preferred label from MONDO"} synonym: "ocular melanoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "OM" RELATED ABBREVIATION [ONCOTREE:OM] xref: DOID:1752 {source="MONDO:equivalentTo"} xref: EFO:1000403 {source="MONDO:equivalentTo"} xref: GARD:0007236 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: MONDO:0006325 xref: NCIT:C8562 {source="MONDO:equivalentTo", source="EFO:1000403", source="MONDO:exact-label-match"} xref: NCIT:C8562 {source="MONDO:equivalentTo", source="EFO:1000403", source="exact-label-match"} xref: ONCOTREE:OM {source="MONDO:equivalentTo"} is_a: EFO:0000756 {source="DOID:1752", source="EFO:1000403", source="MONDO:Redundant", source="NCIT:C8562", source="NCIT:C8562/inferred"} ! melanoma is_a: MONDO:0002236 {source="DOID:1752", source="NCIT:C8562"} ! ocular cancer property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0558356 property_value: exactMatch DOID:1752 property_value: exactMatch DOID:1752 property_value: exactMatch NCIT:C8562 property_value: exactMatch NCIT:C8562 property_value: excluded_subClassOf MONDO:0006320 {source="NCIT:C8562", source="https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/22"} property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/melanoma.yaml [Term] id: EFO:1000404 name: Ocular Melanoma with Extraocular Extension def: "A melanoma arising from and extending beyond the structures of the eye." [NCIT:C7913] synonym: "extraocular extension melanoma" EXACT [NCIT:C7913] synonym: "extraocular extension of melanoma" EXACT [NCIT:C7913] synonym: "ocular melanoma with extraocular extension" EXACT [NCIT:C7913] synonym: "ocular melanoma with extraocular extension" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "ocular melanoma with extraocular extension" EXACT [] {comment="preferred label from MONDO"} xref: EFO:1000404 {source="MONDO:equivalentTo"} xref: MONDO:0006326 xref: NCIT:C7913 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000404"} xref: NCIT:C7913 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000404"} xref: UMLS:C0278869 {source="MONDO:equivalentTo", source="NCIT:C7913"} is_a: EFO:1000403 {source="NCIT:C7913"} ! Ocular Melanoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278869 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278869 property_value: exactMatch NCIT:C7913 property_value: exactMatch NCIT:C7913 [Term] id: EFO:1000405 name: Ocular Sebaceous Carcinoma def: "Ocular sebaceous carcinoma is a rare condition and accounts for 1% to 5.5% of eyelid malignancies and is the third most common eyelid malignancy after basal cell and squamous cell carcinoma. It usually affects elderly women, has a high rate of local recurrence, and a tendency to regional and distant metastases." [EFO:1000405] synonym: "eye sebaceous carcinoma" EXACT [NCIT:C43340] synonym: "ocular sebaceous carcinoma" EXACT [NCIT:C43340] synonym: "ocular sebaceous carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "ocular sebaceous carcinoma" EXACT [] {comment="preferred label from MONDO"} xref: EFO:1000405 {source="MONDO:equivalentTo"} xref: MONDO:0006327 xref: NCIT:C43340 {source="MONDO:equivalentTo", source="EFO:1000405", source="exact-label-match"} xref: NCIT:C43340 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000405"} xref: UMLS:C1709308 {source="MONDO:equivalentTo", source="NCIT:C43340"} is_a: EFO:1001171 {source="NCIT:C43340"} ! sebaceous adenocarcinoma is_a: MONDO:0002466 {source="NCIT:C43340"} ! eye carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709308 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709308 property_value: exactMatch NCIT:C43340 property_value: exactMatch NCIT:C43340 [Term] id: EFO:1000406 name: Odontogenic Cyst def: "A cyst in the jaw that arises from tissues of tooth development." [NCIT:P378] synonym: "odontogenic cyst" EXACT [] {comment="preferred label from MONDO"} synonym: "odontogenic cyst" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:1000406 {source="MONDO:equivalentTo"} xref: ICD9:526.89 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:526.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D009807 {source="MONDO:equivalentTo"} xref: MONDO:0006328 xref: NCIT:C54220 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="EFO:1000406"} xref: SCTID:235110008 {source="MONDO:equivalentTo"} xref: Wikipedia:Odontogenic_cyst {source="EFO:1000406"} is_a: EFO:0000616 {source="EFO:1000406", source="MESH:D009807/inferred"} ! neoplasm property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0028879 property_value: exactMatch http://identifiers.org/mesh/D009807 property_value: exactMatch http://identifiers.org/mesh/D009807 property_value: exactMatch http://identifiers.org/snomedct/235110008 property_value: exactMatch http://identifiers.org/snomedct/235110008 property_value: exactMatch NCIT:C54220 property_value: exactMatch NCIT:C54220 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1000407 name: Olfactory Neuroblastoma def: "A rare neuroectodermal tumor originating from olfactory receptor cells in the nasal cavity or paranasal sinuses. Microscopically, it is characterized by neuroblastic differentiation with occasional formation of rosettes. If the tumor is not resected at an early stage, the prognosis is usually poor." [] def: "An olfactory neuroblastoma arising in the paranasal sinus." [NCIT:P378] synonym: "Asthesioneuroblastoma" EXACT [DOID:369] synonym: "Asthesioneuroblastoma (morphologic abnormality)" EXACT [DOID:369] synonym: "esthesioneuroblastoma" RELATED [NCIT:C3789] synonym: "Esthesioneuroblastoma (morphologic abnormality)" EXACT [] synonym: "esthesioneuroblastoma (morphologic abnormality)" RELATED [DOID:369] synonym: "Esthesioneuroblastoma, Olfactory" EXACT [] synonym: "Esthesioneuroepithelioma" RELATED [NCIT:C3789] synonym: "Esthesioneuroepithelioma (morphologic abnormality)" EXACT [] synonym: "Esthesioneuroepithelioma (morphologic abnormality)" RELATED [DOID:369] synonym: "Esthesioneuroepithelioma [dup] (morphologic abnormality)" EXACT [] synonym: "Esthesioneuroepithelioma [dup] (morphologic abnormality)" RELATED [DOID:369] synonym: "olfactory esthesioneuroblastoma" EXACT [DOID:369, NCIT:C3789] synonym: "Olfactory Esthesioneuroblastoma||paranasal sinus Olfactory neuroblastoma" EXACT [] synonym: "olfactory neuroblastoma" EXACT [] {comment="preferred label from MONDO"} synonym: "olfactory neuroblastoma" EXACT [NCIT:C3789] synonym: "olfactory neuroepithelioma" EXACT [NCIT:C3789] synonym: "paranasal sinus olfactory neuroblastoma" EXACT [DOID:369, NCIT:C6016] xref: DOID:369 {source="MONDO:equivalentTo", source="EFO:1000407"} xref: ICDO:9522/3 {source="NCIT:C3789"} xref: ICDO:9523/3 {source="NCIT:C3789"} xref: MeSH:D018304 xref: MONDO:0006329 xref: NCIT:C3789 {source="DOID:369", source="MONDO:equivalentTo", source="EFO:1000407"} xref: NCIt:C3789 xref: ONCOTREE:ONBL {source="MONDO:equivalentTo"} xref: SCTID:422886007 {source="DOID:369", source="MONDO:relatedTo"} is_a: EFO:0000684 ! respiratory system disease is_a: EFO:1000884 {source="DOID:369/inferred", source="MONDO:Redundant", source="NCIT:C3789/inferred"} ! cranial nerve malignant neoplasm is_a: MONDO:0002722 {source="DOID:369", source="NCIT:C3789/inferred"} ! olfactory nerve neoplasm is_a: MONDO:0002749 {source="NCIT:C3789"} ! extracranial neuroblastoma is_a: MONDO:0003142 ! intracranial primitive neuroectodermal tumor property_value: exactMatch DOID:369 property_value: exactMatch NCIT:C3789 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000408 name: Ossifying Fibromyxoid Tumor def: "A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. The lesions are associated with the formation of metaplastic bone. Most patients present with painless subcutaneous masses. Recurrences have been reported in a minority of patients." [NCIT:P378] synonym: "OFMT" EXACT ABBREVIATION [NCIT:C6582, ONCOTREE:OFMT] synonym: "ossifying fibromyxoid neoplasm" EXACT [NCIT:C6582] synonym: "ossifying fibromyxoid tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "ossifying fibromyxoid tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "ossifying fibromyxoid tumor (morphologic abnormality)" EXACT [DOID:2685] synonym: "ossifying fibromyxoid tumour (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "ossifying fibromyxoma" EXACT [DOID:2685, NCIT:C6582] xref: DOID:2685 {source="MONDO:equivalentTo"} xref: EFO:1000408 {source="MONDO:equivalentTo"} xref: ICDO:8842/0 {source="NCIT:C6582"} xref: MONDO:0006330 xref: NCIT:C6582 {source="EFO:1000408", source="DOID:2685", source="MONDO:equivalentTo"} xref: ONCOTREE:OFMT {source="MONDO:equivalentTo"} xref: SCTID:404076001 {source="DOID:2685", source="MONDO:equivalentTo"} xref: UMLS:C1266128 {source="NCIT:C6582", source="DOID:2685", source="MONDO:equivalentTo"} is_a: MONDO:0037745 {source="NCIT:C6582"} ! fibromyxoid tumor property_value: closeMatch http://identifiers.org/snomedct/128745002 property_value: exactMatch DOID:2685 property_value: exactMatch DOID:2685 property_value: exactMatch http://identifiers.org/snomedct/404076001 property_value: exactMatch http://identifiers.org/snomedct/404076001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266128 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266128 property_value: exactMatch NCIT:C6582 property_value: exactMatch NCIT:C6582 property_value: excluded_subClassOf MONDO:0002616 {source="DOID:2685"} [Term] id: EFO:1000409 name: Ossifying Renal Tumor of Infancy def: "A benign neoplasm of the kidney occurring in infants. It develops as an intracalyceal mass and is characterized by the presence of osteoid formation, osteoblast-like cells, and spindle cells." [] xref: NCIt:C66774 is_a: EFO:0003865 ! kidney neoplasm [Term] id: EFO:1000410 name: Osteoblastoma def: "A rare benign bone-forming neoplasm usually arising from the spine. It is a well-circumscribed lytic tumor that varies in size. The tumor is composed of woven bone trabeculae and shares similar histologic characteristics with the osteoid osteoma. Surgical curettage is the treatment of choice. The prognosis is excellent." [] xref: NCIt:C3294 is_a: EFO:0003820 ! bone neoplasm [Term] id: EFO:1000411 name: Osteochondroma def: "A common, benign cartiliginous neoplasm arising from the metaphysis of bone. The tumor grows on the surface of the bone; it may be pedunculated or sessile. It is characterized by the presence of chondrocytes, a cartilage cap, and a fibrous perichondrium that extends to the periosteum of the bone. In some cases, there is deletion of 8q24.1 chromosome locus." [] xref: MedDRA:10059587 xref: NCIt:C3295 is_a: EFO:0003820 ! bone neoplasm [Term] id: EFO:1000412 name: Ovarian Carcinosarcoma alt_id: MONDO:0016247 def: "A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements." [NCIT:C9192] subset: ordo_disease {source="Orphanet:213512"} synonym: "carcinosarcoma of ovary" EXACT [NCIT:C9192] synonym: "carcinosarcoma of the ovary" EXACT [NCIT:C9192] synonym: "malignant mixed mesodermal Mullerian neoplasm of ovary" EXACT [NCIT:C9192] synonym: "malignant mixed mesodermal Mullerian neoplasm of the ovary" EXACT [NCIT:C9192] synonym: "malignant mixed mesodermal Mullerian tumor of ovary" EXACT [NCIT:C9192] synonym: "malignant mixed mesodermal Mullerian tumor of the ovary" EXACT [NCIT:C9192] synonym: "malignant mixed mesodermal Mullerian tumour of ovary" EXACT OMO:0003005 [] synonym: "malignant mixed mesodermal Mullerian tumour of the ovary" EXACT OMO:0003005 [] synonym: "malignant mixed mesodermal Müllerian neoplasm of ovary" EXACT [NCIT:C9192] synonym: "malignant mixed mesodermal Müllerian neoplasm of the ovary" EXACT [NCIT:C9192] synonym: "malignant mixed mesodermal Müllerian tumor of ovary" EXACT [NCIT:C9192] synonym: "malignant mixed mesodermal Müllerian tumor of the ovary" EXACT [NCIT:C9192] synonym: "malignant mixed mesodermal Müllerian tumour of ovary" EXACT OMO:0003005 [] synonym: "malignant mixed mesodermal Müllerian tumour of the ovary" EXACT OMO:0003005 [] synonym: "malignant mixed Müllerian tumor of the ovary" RELATED [Orphanet:213512] synonym: "malignant mixed Müllerian tumour of the ovary" RELATED OMO:0003005 [] synonym: "MMMT of the ovary" EXACT [Orphanet:213512] synonym: "ovarian carcinosarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "ovarian carcinosarcoma" EXACT [MONDO:0006331, NCIT:C9192, Orphanet:213512] synonym: "ovarian carcinosarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "ovarian carcinosarcoma/malignant mixed mesodermal tumor" RELATED [ONCOTREE:OCS] synonym: "ovarian carcinosarcoma/malignant mixed mesodermal tumour" RELATED OMO:0003005 [] synonym: "ovarian malignant mesodermal (Mullerian) mixed tumor" EXACT [NCIT:C9192] synonym: "ovarian malignant mesodermal (mullerian) mixed tumor" EXACT [DOID:6170] synonym: "ovarian malignant mesodermal (Mullerian) mixed tumour" EXACT OMO:0003005 [] synonym: "ovarian malignant mesodermal (mullerian) mixed tumour" EXACT OMO:0003005 [] synonym: "ovarian malignant mesodermal (Müllerian) mixed tumor" EXACT [NCIT:C9192] synonym: "ovarian malignant mesodermal (Müllerian) mixed tumour" EXACT OMO:0003005 [] synonym: "ovarian malignant mixed epithelial mesenchymal tumor" EXACT [Orphanet:213512] synonym: "ovarian malignant mixed epithelial mesenchymal tumour" EXACT OMO:0003005 [] synonym: "ovarian malignant mixed mesodermal (Mullerian) tumor" EXACT [NCIT:C9192] synonym: "ovarian malignant mixed mesodermal (Mullerian) tumour" EXACT OMO:0003005 [] synonym: "ovarian malignant mixed mesodermal (Müllerian) tumor" EXACT [NCIT:C9192] synonym: "ovarian malignant mixed mesodermal (Müllerian) tumour" EXACT OMO:0003005 [] synonym: "ovarian malignant mixed mesodermal Mullerian neoplasm" EXACT [NCIT:C9192] synonym: "ovarian malignant mixed mesodermal Mullerian tumor" EXACT [NCIT:C9192] synonym: "ovarian malignant mixed mesodermal Mullerian tumour" EXACT OMO:0003005 [] synonym: "ovarian malignant mixed mesodermal Müllerian neoplasm" EXACT [NCIT:C9192] synonym: "ovarian malignant mixed mesodermal Müllerian tumor" EXACT [NCIT:C9192] synonym: "ovarian malignant mixed mesodermal Müllerian tumour" EXACT OMO:0003005 [] synonym: "ovarian malignant mixed Mullerian neoplasm" EXACT [NCIT:C9192] synonym: "ovarian malignant mixed Mullerian tumor" EXACT [DOID:6170, NCIT:C9192, Orphanet:213512] synonym: "ovarian malignant mixed Mullerian tumour" EXACT OMO:0003005 [] synonym: "ovarian malignant mixed Müllerian neoplasm" EXACT [NCIT:C9192] synonym: "ovarian malignant mixed Müllerian tumor" EXACT [NCIT:C9192] synonym: "ovarian malignant mixed Müllerian tumour" EXACT OMO:0003005 [] synonym: "ovarian MMMT" EXACT [DOID:6170, NCIT:C9192] synonym: "ovary carcinosarcoma" EXACT [MONDO:patterns/location] xref: DOID:6170 {source="MONDO:equivalentTo"} xref: EFO:1000412 {source="MONDO:equivalentTo"} xref: GARD:0007296 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10:C56 {source="Orphanet:213512", source="ORDO:213512/ntbt"} xref: MONDO:0003792 xref: NCIT:C9192 {source="DesignPattern", source="DOID:6170", source="MONDO:equivalentTo", source="EFO:1000412"} xref: NCIT:C9192 {source="DOID:6170", source="MONDO:equivalentTo", source="EFO:1000412"} xref: ONCOTREE:OCS {source="MONDO:equivalentTo"} xref: Orphanet:213512 {source="MONDO:equivalentTo"} xref: SCTID:702368000 {source="DOID:6170", source="MONDO:equivalentTo"} xref: SCTID:702368000 {source="DesignPattern", source="DOID:6170", source="MONDO:equivalentTo"} xref: UMLS:C0392998 {source="Orphanet:213512", source="DOID:6170", source="MONDO:equivalentTo", source="NCIT:C9192"} xref: UMLS:C0392998 {source="MONDO:relatedTo", source="Orphanet:213512", source="DOID:6170", source="MONDO:equivalentTo", source="NCIT:C9192"} is_a: EFO:0001075 {source="EFO:1000412", source="MONDO:Redundant"} ! ovarian carcinoma is_a: MONDO:0002928 {source="MONDO:Redundant", source="NCIT:C9192/inferred"} ! carcinosarcoma is_a: MONDO:0003812 {source="NCIT:C9192"} ! ovarian endometrial cancer property_value: exactMatch DOID:6170 property_value: exactMatch DOID:6170 property_value: exactMatch http://identifiers.org/snomedct/702368000 property_value: exactMatch http://identifiers.org/snomedct/702368000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0392998 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0392998 property_value: exactMatch NCIT:C9192 property_value: exactMatch NCIT:C9192 property_value: exactMatch Orphanet:213512 [Term] id: EFO:1000413 name: Ovarian Choriocarcinoma def: "A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma." [NCIT:C4515] synonym: "choriocarcinoma of ovary" EXACT [NCIT:C4515] synonym: "choriocarcinoma of ovary" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "choriocarcinoma of ovary" EXACT [] {comment="preferred label from MONDO"} synonym: "choriocarcinoma of the ovary" EXACT [NCIT:C4515] synonym: "germ cell choriocarcinoma of ovary" EXACT [NCIT:C4515] synonym: "germ cell choriocarcinoma of the ovary" EXACT [NCIT:C4515] synonym: "ovarian choriocarcinoma" EXACT [DOID:5550, MONDO:0006332, NCIT:C4515] synonym: "ovarian germ cell choriocarcinoma" EXACT [NCIT:C4515] synonym: "ovary choriocarcinoma (disease)" EXACT [MONDO:patterns/location] xref: DOID:5550 {source="MONDO:equivalentTo"} xref: EFO:1000413 {source="MONDO:equivalentTo"} xref: MONDO:0003507 xref: NCIT:C4515 {source="MONDO:equivalentTo", source="EFO:1000413", source="DOID:5550"} xref: SCTID:254870004 {source="MONDO:equivalentTo", source="DOID:5550"} xref: UMLS:C0346181 {source="MONDO:equivalentTo", source="NCIT:C4515", source="DOID:5550"} is_a: EFO:0002893 {source="DOID:5550", source="EFO:1000413", source="MONDO:Redundant", source="NCIT:C4515"} ! choriocarcinoma is_a: MONDO:0018171 {source="DOID:5550", source="MONDO:Redundant"} ! malignant germ cell tumor of ovary property_value: exactMatch DOID:5550 property_value: exactMatch DOID:5550 property_value: exactMatch http://identifiers.org/snomedct/254870004 property_value: exactMatch http://identifiers.org/snomedct/254870004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346181 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346181 property_value: exactMatch NCIT:C4515 property_value: exactMatch NCIT:C4515 [Term] id: EFO:1000414 name: Ovarian Dysgerminoma def: "A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage." [NCIT:C8106] synonym: "dysgerminoma" RELATED [ONCOTREE:ODYS] synonym: "dysgerminoma of ovary" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "dysgerminoma of ovary" EXACT [NCIT:C8106] synonym: "dysgerminoma of ovary" EXACT [] {comment="preferred label from MONDO"} synonym: "dysgerminoma of the ovary" EXACT [NCIT:C8106] synonym: "germ cell dysgerminoma of ovary" EXACT [NCIT:C8106] synonym: "germ cell dysgerminoma of the ovary" EXACT [NCIT:C8106] synonym: "ovarian dysgerminoma" EXACT [DOID:5511, MONDO:0006333, NCIT:C8106] synonym: "ovarian germ cell dysgerminoma" EXACT [NCIT:C8106] synonym: "ovary dysgerminoma (disease)" EXACT [MONDO:patterns/location] xref: DOID:5511 {source="MONDO:equivalentTo"} xref: EFO:1000414 {source="MONDO:equivalentTo"} xref: MONDO:0003481 xref: NCIT:C8106 {source="DOID:5511", source="MONDO:equivalentTo", source="EFO:1000414"} xref: ONCOTREE:ODYS {source="MONDO:equivalentTo"} xref: SCTID:254874008 {source="DOID:5511", source="MONDO:equivalentTo"} xref: UMLS:C0346185 {source="DOID:5511", source="MONDO:equivalentTo", source="NCIT:C8106"} is_a: MONDO:0003002 {source="DOID:5511", source="MONDO:Redundant", source="NCIT:C8106"} ! dysgerminoma is_a: MONDO:0003408 {source="NCIT:C8106"} ! ovarian primitive germ cell tumor property_value: exactMatch DOID:5511 property_value: exactMatch DOID:5511 property_value: exactMatch http://identifiers.org/snomedct/254874008 property_value: exactMatch http://identifiers.org/snomedct/254874008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346185 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346185 property_value: exactMatch NCIT:C8106 property_value: exactMatch NCIT:C8106 [Term] id: EFO:1000415 name: Ovarian Embryonal Carcinoma def: "An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain." [NCIT:C8108] synonym: "embryonal carcinoma" RELATED [ONCOTREE:OEC] synonym: "embryonal carcinoma of ovary" EXACT [NCIT:C8108] synonym: "embryonal carcinoma of the ovary" EXACT [DOID:5681, NCIT:C8108] synonym: "ovarian embryonal carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "ovarian embryonal carcinoma" EXACT [MONDO:0006334, NCIT:C8108] synonym: "ovarian embryonal carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "ovary embryonal carcinoma" EXACT [MONDO:patterns/location] xref: DOID:5681 {source="MONDO:equivalentTo"} xref: EFO:1000415 {source="MONDO:equivalentTo"} xref: MONDO:0003581 xref: NCIT:C8108 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5681", source="EFO:1000415"} xref: NCIT:C8108 {source="MONDO:equivalentTo", source="DOID:5681", source="exact-label-match", source="EFO:1000415"} xref: ONCOTREE:OEC {source="MONDO:equivalentTo"} xref: SCTID:254872007 {source="MONDO:equivalentTo", source="DOID:5681"} xref: UMLS:C0346183 {source="MONDO:equivalentTo", source="NCIT:C8108", source="DOID:5681"} is_a: EFO:0004986 {source="DOID:5681", source="EFO:1000415", source="MONDO:Redundant", source="NCIT:C8108"} ! embryonal carcinoma is_a: MONDO:0016096 {source="MONDO:Redundant", source="NCIT:C8108"} ! malignant non-dysgerminomatous germ cell tumor of ovary property_value: exactMatch DOID:5681 property_value: exactMatch DOID:5681 property_value: exactMatch http://identifiers.org/snomedct/254872007 property_value: exactMatch http://identifiers.org/snomedct/254872007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346183 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346183 property_value: exactMatch NCIT:C8108 property_value: exactMatch NCIT:C8108 [Term] id: EFO:1000416 name: Ovarian Endometrioid Adenocarcinoma def: "An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma." [NCIT:C7979] subset: ordo_disease {source="Orphanet:454723"} synonym: "endometrioid adenocarcinoma of ovary" EXACT [NCIT:C7979] synonym: "endometrioid adenocarcinoma of the ovary" EXACT [NCIT:C7979] synonym: "endometrioid cancer of ovary" EXACT [NCIT:C7979] synonym: "endometrioid cancer of the ovary" EXACT [NCIT:C7979] synonym: "endometrioid carcinoma of ovary" EXACT [DOID:5828, NCIT:C7979] synonym: "endometrioid carcinoma of the ovary" EXACT [NCIT:C7979] synonym: "endometrioid carcinoma ovary" EXACT [DOID:5828] synonym: "endometrioid ovarian cancer" RELATED [ONCOTREE:EOV] synonym: "endometrioid ovary carcinoma" EXACT [MONDO:0003662] synonym: "endometrium adenocarcinoma of ovary" EXACT [MONDO:design_pattern] synonym: "ovarian endometrioid adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "ovarian endometrioid adenocarcinoma" EXACT [NCIT:C7979] synonym: "ovarian endometrioid adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "ovarian endometrioid cancer" EXACT [NCIT:C7979] synonym: "ovarian endometrioid carcinoma" EXACT [DOID:5828, NCIT:C7979] synonym: "ovary endometrium adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:5828 {source="MONDO:equivalentTo"} xref: EFO:1000416 {source="MONDO:equivalentTo"} xref: ICD10:C56 {source="ORDO:454723/ntbt", source="Orphanet:454723"} xref: MONDO:0006335 xref: NCIT:C7979 {source="MONDO:equivalentTo", source="EFO:1000416", source="DOID:5828"} xref: ONCOTREE:EOV {source="MONDO:equivalentTo"} xref: Orphanet:454723 {source="MONDO:equivalentTo"} xref: SCTID:254852002 {source="MONDO:equivalentTo", source="DOID:5828"} xref: UMLS:C0346163 {source="MONDO:equivalentTo", source="Orphanet:454723", source="DOID:5828", source="NCIT:C7979"} is_a: EFO:0000466 {source="NCIT:C7979"} ! endometrioid carcinoma is_a: EFO:0005232 {source="EFO:1000416", source="MONDO:Redundant"} ! endometrium adenocarcinoma is_a: EFO:0006460 {source="DOID:5828", source="EFO:1000416", source="MONDO:Redundant", source="NCIT:C7979"} ! ovarian adenocarcinoma is_a: MONDO:0003812 {source="NCIT:C7979"} ! ovarian endometrial cancer property_value: exactMatch DOID:5828 property_value: exactMatch DOID:5828 property_value: exactMatch http://identifiers.org/snomedct/254852002 property_value: exactMatch http://identifiers.org/snomedct/254852002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346163 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346163 property_value: exactMatch NCIT:C7979 property_value: exactMatch NCIT:C7979 property_value: exactMatch Orphanet:454723 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:1000417 name: Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation def: "An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance." [NCIT:C40061] synonym: "ovarian adenoacanthoma" EXACT [NCIT:C40061] synonym: "ovarian adenosquamous carcinoma" EXACT [NCIT:C40061] synonym: "ovarian endometrioid adenocarcinoma with squamous differentiation" EXACT [] {comment="preferred label from MONDO"} synonym: "ovarian endometrioid adenocarcinoma with squamous differentiation" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "ovarian endometrioid adenocarcinoma with squamous differentiation" EXACT [NCIT:C40061] xref: EFO:1000417 {source="MONDO:equivalentTo"} xref: MONDO:0006336 xref: NCIT:C40061 {source="MONDO:equivalentTo", source="EFO:1000417"} is_a: EFO:1000416 {source="NCIT:C40061"} ! Ovarian Endometrioid Adenocarcinoma property_value: exactMatch NCIT:C40061 property_value: exactMatch NCIT:C40061 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql [Term] id: EFO:1000418 name: Ovarian Endometriosis def: "A non-neoplastic disorder characterized by the growth of endometrial tissue in the ovaries. It results in the development of blood filled ovarian cysts (chocolate cysts), and creation of scars and adhesions." [NCIT:C27628] synonym: "endometriosis (disease) of ovary" EXACT [] synonym: "endometriosis of ovary" EXACT [MONDO:0001289] synonym: "ovarian endometriosis" EXACT [] {comment="preferred label from MONDO"} synonym: "ovarian endometriosis" EXACT [DOID:11432] synonym: "ovary endometriosis (disease)" EXACT [MONDO:patterns/location] xref: DOID:11432 {source="MONDO:equivalentTo"} xref: ICD10CM:N80.1 {source="MONDO:equivalentTo", source="DOID:11432"} xref: ICD9:617.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11432"} xref: MONDO:0006337 xref: NCIT:C27628 {source="MONDO:equivalentTo", source="EFO:1000418", source="DOID:11432"} xref: NCIt:C27628 xref: SCTID:266589005 {source="MONDO:equivalentTo", source="DOID:11432"} xref: UMLS:C0156344 {source="MONDO:equivalentTo", source="NCIT:C27628", source="DOID:11432"} is_a: EFO:0001065 {source="DOID:11432", source="EFO:1000418", source="ICD10CM:N80.1", source="MONDO:Redundant", source="NCIT:C27628"} ! endometriosis is_a: EFO:0005771 {source="DOID:11432", source="MONDO:Redundant", source="NCIT:C27628/inferred"} ! ovarian disease property_value: exactMatch DOID:11432 property_value: exactMatch http://identifiers.org/snomedct/266589005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156344 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/N80.1 property_value: exactMatch NCIT:C27628 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1000419 name: Ovarian Germ Cell Tumor def: "A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma." [NCIT:C3873] comment: Editor note: we make this equivalent to DOID:2156, despite the fact the DOID has 'cancer' in the label it's placement in the ontology is consistent with the broader 'tumor' synonym: "germ cell neoplasm of ovary" EXACT [DOID:2156, NCIT:C3873] synonym: "germ cell neoplasm of the ovary" EXACT [NCIT:C3873] synonym: "germ cell tumor of ovary" EXACT [NCIT:C3873] synonym: "germ cell tumor of the ovary" EXACT [NCIT:C3873] synonym: "germ cell tumour of ovary" EXACT OMO:0003005 [] synonym: "germ cell tumour of the ovary" EXACT OMO:0003005 [] synonym: "ovarian germ cell cancer" RELATED [OMIM:603737] synonym: "ovarian germ cell neoplasm" EXACT [NCIT:C3873] synonym: "ovarian germ cell tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "ovarian germ cell tumor" EXACT [DOID:2156, NCIT:C3873] synonym: "ovarian germ cell tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "ovary germ cell tumor" EXACT [MONDO:patterns/location] synonym: "ovary germ cell tumour" EXACT OMO:0003005 [] xref: DOID:2156 {source="MONDO:equivalentTo"} xref: EFO:1000419 {source="MONDO:equivalentTo"} xref: GARD:0009330 {source="MONDO:equivalentTo", source="OMIM-shared"} xref: ICD9:239.5 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MONDO:0011366 xref: NCIT:C3873 {source="EFO:1000419", source="DOID:2156", source="MONDO:equivalentTo"} xref: OMIM:603737 {source="DOID:2156", source="MONDO:equivalentTo"} xref: ONCOTREE:OGCT {source="MONDO:equivalentTo"} xref: SCTID:237059008 {source="DOID:2156", source="MONDO:equivalentTo"} xref: UMLS:C0238324 {source="DOID:2156", source="MONDO:equivalentTo", source="NCIT:C3873"} is_a: EFO:0000514 {source="EFO:1000419", source="MONDO:Redundant", source="NCIT:C3873"} ! germ cell tumor is_a: EFO:0003893 {source="MONDO:Redundant", source="NCIT:C3873"} ! ovarian neoplasm relationship: EFO:0000784 CL:0000586 ! has_disease_location germ cell property_value: exactMatch DOID:2156 property_value: exactMatch DOID:2156 property_value: exactMatch http://identifiers.org/omim/603737 property_value: exactMatch http://identifiers.org/snomedct/237059008 property_value: exactMatch http://identifiers.org/snomedct/237059008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238324 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238324 property_value: exactMatch https://omim.org/entry/603737 property_value: exactMatch NCIT:C3873 property_value: exactMatch NCIT:C3873 [Term] id: EFO:1000420 name: Ovarian Gonadoblastoma def: "A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites." [] xref: MedDRA:10081854 xref: NCIt:C39985 is_a: EFO:0003893 ! ovarian neoplasm [Term] id: EFO:1000421 name: Ovarian Granulosa Cell Tumor def: "A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis." [] xref: MedDRA:10073273 xref: NCIt:C6261 is_a: EFO:0003893 ! ovarian neoplasm [Term] id: EFO:1000422 name: Ovarian Gynandroblastoma def: "A rare neoplasm arising from the ovary. Although it may occur at any age, it is more often seen in young females. Morphologically, it is characterized by a mixture of two cellular populations: well differentiated Sertoli cells and granulosa cells, with the latter constituting at least ten percent of the neoplasm. The vast majority of cases are stage I lesions at presentation and produce either estrogenic or androgenic manifestations. Although it may present as a massive ovarian tumor, it usually follows a benign clinical course. Very rare case reports of testicular lesions morphologically resembling gynandroblastomas are in fact variants of juvenile granulose cell tumor, or Sertoli cell tumor, or a combination of both." [] xref: NCIt:C3072 is_a: EFO:0003893 ! ovarian neoplasm [Term] id: EFO:1000423 name: Ovarian Leydig Cell Tumor def: "A rare, benign steroid tumor that arises from the ovary and is composed of Leydig cells that contain Reinke crystals. It usually affects postmenopausal women and in most cases, is associated with androgenic manifestations." [] xref: NCIt:C5231 is_a: EFO:0003893 ! ovarian neoplasm relationship: EFO:0000784 CL:0000178 ! has_disease_location Leydig cell [Term] id: EFO:1000424 name: Ovarian Microcystic Stromal Tumor def: "A benign, unilateral tumor that arises from the ovary and is characterized by the presence of conspicuous microcystic changes, cellular areas, and a fibrous stroma." [NCIT:C121953] synonym: "MCST" EXACT ABBREVIATION [Orphanet:569248] synonym: "microcystic stromal tumor" EXACT [Orphanet:569248] synonym: "microcystic stromal tumour" EXACT OMO:0003005 [] synonym: "ovarian microcystic stromal tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "ovarian microcystic stromal tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:1000424 {source="MONDO:equivalentTo"} xref: MONDO:0006339 xref: NCIT:C121953 {source="MONDO:equivalentTo", source="EFO:1000424", source="exact-label-match"} xref: NCIT:C121953 {source="MONDO:equivalentTo", source="EFO:1000424", source="MONDO:exact-label-match"} xref: Orphanet:569248 {source="MONDO:equivalentTo"} xref: UMLS:C4054287 {source="MONDO:equivalentTo", source="NCIT:C121953"} is_a: MONDO:0024387 {source="NCIT:C121953"} ! benign ovarian sex cord-stromal tumor property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4054287 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4054287 property_value: exactMatch NCIT:C121953 property_value: exactMatch NCIT:C121953 property_value: exactMatch Orphanet:569248 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql [Term] id: EFO:1000425 name: Ovarian Mixed Epithelial Tumor def: "A benign, borderline, or malignant surface epithelial-stromal tumor of the ovary. It is composed of an admixture of two or more of the following cell types, mucinous, serous, clear, transitional, or endometrioid cell." [] xref: NCIt:C4508 is_a: EFO:0003893 ! ovarian neoplasm [Term] id: EFO:1000426 name: Ovarian Sclerosing Stromal Tumor def: "A benign ovarian stromal tumor characterized by the presence of cellular areas which contain fibroblasts and round cells. The cellular areas are separated by sclerotic or edematous hypocellular tissue. Symptoms include abdominal discomfort and menstrual abnormalities." [] xref: NCIt:C4204 is_a: EFO:0003893 ! ovarian neoplasm [Term] id: EFO:1000427 name: Ovarian Serous Adenocarcinofibroma def: "A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells of serous type, forming glandular, papillary, and solid patterns." [] xref: NCIt:C67092 is_a: EFO:0003893 ! ovarian neoplasm [Term] id: EFO:1000428 name: Ovarian Serous Adenofibroma def: "A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma." [NCIT:C40031] synonym: "ovarian serous adenofibroma" EXACT [] {comment="preferred label from MONDO"} synonym: "ovarian serous adenofibroma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "ovarian serous adenofibroma" EXACT [NCIT:C40031] synonym: "ovary serous adenofibroma" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "serous adenofibroma of ovary" EXACT [MONDO:design_pattern] xref: DOID:5474 {source="MONDO:equivalentTo"} xref: EFO:1000428 {source="MONDO:equivalentTo"} xref: MONDO:0006340 xref: NCIT:C40031 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5474", source="EFO:1000428"} xref: NCIT:C40031 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:5474", source="EFO:1000428"} xref: UMLS:C1518729 {source="MONDO:equivalentTo", source="NCIT:C40031", source="DOID:5474"} is_a: EFO:1000116 {source="DOID:5474", source="MONDO:Redundant", source="NCIT:C40031/inferred"} ! Benign Ovarian Neoplasm is_a: MONDO:0024886 ! serous adenofibroma property_value: exactMatch DOID:5474 property_value: exactMatch DOID:5474 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518729 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518729 property_value: exactMatch NCIT:C40031 property_value: exactMatch NCIT:C40031 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:1000429 name: Ovarian Sertoli-Leydig Cell Tumor def: "A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8." [] xref: MedDRA:10073278 xref: NCIt:C2880 is_a: EFO:0003893 ! ovarian neoplasm relationship: EFO:0000784 CL:0000178 ! has_disease_location Leydig cell [Term] id: EFO:1000430 name: Ovarian Sex Cord Tumor with Annular Tubules def: "An ovarian sex cord-stromal tumor characterized by the presence of Sertoli cells forming annular tubules. It may be associated with Peutz-Jeghers syndrome. Cases associated with Peutz-Jeghers syndrome have followed a benign clinical course. Cases which are not associated with Peutz-Jeghers syndrome have been reported having a clinically malignant course." [] xref: NCIt:C4208 is_a: EFO:0003893 ! ovarian neoplasm [Term] id: EFO:1000431 name: Ovarian Small Cell Carcinoma def: "A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type." [NCIT:C27390] subset: ordo_disease {source="Orphanet:370396"} synonym: "ovarian small cell cancer" EXACT [NCIT:C27390] synonym: "ovarian small cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "ovarian small cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "ovarian small cell carcinoma" EXACT [MONDO:0006341, NCIT:C27390] synonym: "ovarian small cell NEC" EXACT [NCIT:C27390] synonym: "ovarian small cell neuroendocrine carcinoma" EXACT [NCIT:C27390] synonym: "ovary small cell carcinoma" EXACT [MONDO:patterns/location] synonym: "SCCO" EXACT ABBREVIATION [Orphanet:370396] synonym: "small cell carcinoma of ovary" EXACT [MONDO:design_pattern] synonym: "small cell carcinoma of the ovary" EXACT [MONDO:0018272] synonym: "small cell ovarian carcinoma" EXACT [Orphanet:370396] xref: DOID:6179 {source="MONDO:equivalentTo"} xref: EFO:1000431 {source="MONDO:equivalentTo"} xref: GARD:0010411 {source="MONDO:equivalentTo"} xref: ICD10:C56 {source="ORDO:370396/ntbt", source="Orphanet:370396"} xref: MONDO:0003795 xref: NCIT:C27390 {source="DOID:6179", source="MONDO:equivalentTo", source="EFO:1000431"} xref: ONCOTREE:SCCO {source="MONDO:equivalentTo"} xref: Orphanet:370396 {source="MONDO:equivalentTo"} xref: UMLS:C2212006 {source="MONDO:equivalentTo", source="NCIT:C27390"} is_a: EFO:0001075 {source="DOID:6179", source="EFO:1000431", source="MONDO:Entailed", source="NCIT:C27390"} ! ovarian carcinoma is_a: EFO:0008524 ! small cell carcinoma is_a: MONDO:0002481 ! ovarian neuroendocrine neoplasm property_value: exactMatch DOID:6179 property_value: exactMatch DOID:6179 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2212006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2212006 property_value: exactMatch NCIT:C27390 property_value: exactMatch NCIT:C27390 property_value: exactMatch Orphanet:370396 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/small_cell_carcinoma.yaml [Term] id: EFO:1000432 name: Ovarian Squamous Cell Carcinoma def: "A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor." [NCIT:C40093] synonym: "ovarian squamous cell cancer" EXACT [NCIT:C40093] synonym: "ovarian squamous cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "ovarian squamous cell carcinoma" EXACT [MONDO:0006342, NCIT:C40093] synonym: "ovarian squamous cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "ovary squamous cell carcinoma" EXACT [MONDO:patterns/location] xref: DOID:5531 {source="MONDO:equivalentTo"} xref: EFO:1000432 {source="MONDO:equivalentTo"} xref: MONDO:0003494 xref: NCIT:C40093 {source="DOID:5531", source="EFO:1000432", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C40093 {source="DOID:5531", source="EFO:1000432", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C2019443 {source="NCIT:C40093", source="MONDO:equivalentTo"} is_a: EFO:0000707 {source="EFO:1000432", source="MONDO:Redundant", source="NCIT:C40093"} ! squamous cell carcinoma is_a: EFO:0001075 {source="DOID:5531", source="EFO:1000432", source="MONDO:Entailed", source="NCIT:C40093"} ! ovarian carcinoma is_a: MONDO:0003495 ! ovarian squamous cell neoplasm property_value: exactMatch DOID:5531 property_value: exactMatch DOID:5531 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2019443 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2019443 property_value: exactMatch NCIT:C40093 property_value: exactMatch NCIT:C40093 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/squamous_cell_carcinoma.yaml [Term] id: EFO:1000433 name: Ovarian Steroid Cell Tumor def: "An ovarian tumor in which the vast majority of the cells (more than 90% of the tumor cells) resemble steroid hormone-secreting cells. It usually presents with androgenic manifestations. Approximately one-third of the cases follow a malignant clinical course." [] xref: NCIt:C4215 is_a: EFO:0003893 ! ovarian neoplasm [Term] id: EFO:1000434 name: Ovarian Stromal Luteoma def: "A benign ovarian stromal tumor in which more than 90% of the tumor cells resemble steroid hormone-secreting cells. Crystals of Reinke are not present. It occurs in post-menopausal women and it is usually associated with estrogenic effects." [] xref: NCIt:C3202 is_a: EFO:0003893 ! ovarian neoplasm [Term] id: EFO:1000435 name: Ovarian Transitional Cell Carcinoma def: "A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells. There is no morphologic evidence of a benign or borderline Brenner tumor component present." [NCIT:C5240] synonym: "malignant ovarian transitional cell neoplasm" EXACT [DOID:4000] synonym: "ovarian transitional cell cancer" EXACT [DOID:4000, NCIT:C5240] synonym: "ovarian transitional cell carcinoma" EXACT [NCIT:C5240] synonym: "ovarian transitional cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "ovarian transitional cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "ovarian transitional cell neoplasm" RELATED [DOID:4000] synonym: "ovary transitional cell carcinoma" EXACT [MONDO:0002830, MONDO:patterns/location] synonym: "transitional cell carcinoma of ovary" EXACT [DOID:4000, NCIT:C5240] synonym: "transitional cell carcinoma of the ovary" EXACT [NCIT:C5240] xref: DOID:4000 {source="MONDO:equivalentTo"} xref: EFO:1000435 {source="MONDO:equivalentTo"} xref: MONDO:0006343 xref: NCIT:C5240 {source="MONDO:equivalentTo", source="EFO:1000435", source="DOID:4000"} xref: UMLS:C1335184 {source="NCIT:C5240", source="MONDO:equivalentTo", source="DOID:4000"} is_a: EFO:0001075 {source="EFO:1000435", source="MONDO:Redundant", source="NCIT:C5240"} ! ovarian carcinoma is_a: EFO:1000601 {source="DOID:4000", source="MONDO:Redundant", source="NCIT:C5240"} ! Transitional Cell Carcinoma property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1335185 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1518237 property_value: closeMatch NCIT:C40089 property_value: closeMatch NCIT:C7280 property_value: exactMatch DOID:4000 property_value: exactMatch DOID:4000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335184 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335184 property_value: exactMatch NCIT:C5240 property_value: exactMatch NCIT:C5240 [Term] id: EFO:1000436 name: Ovarian Tumor of the Thecoma/Fibroma Group def: "A group of neoplasms that arise from the ovary and represent a spectrum of tumors ranging from neoplasms that are composed entirely of fibroblasts to those that are composed predominantly of theca cells." [] xref: NCIt:C7290 is_a: EFO:0003893 ! ovarian neoplasm [Term] id: EFO:1000437 name: Ovarian Yolk Sac Tumor def: "A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular." [NCIT:C8107] synonym: "endodermal sinus neoplasm of ovary" EXACT [NCIT:C8107] synonym: "endodermal sinus neoplasm of the ovary" EXACT [NCIT:C8107] synonym: "endodermal sinus tumor of ovary" EXACT [NCIT:C8107] synonym: "endodermal sinus tumor of the ovary" EXACT [NCIT:C8107] synonym: "endodermal sinus tumour of ovary" EXACT OMO:0003005 [] synonym: "endodermal sinus tumour of the ovary" EXACT OMO:0003005 [] synonym: "germ cell endodermal sinus neoplasm of ovary" EXACT [NCIT:C8107] synonym: "germ cell endodermal sinus neoplasm of the ovary" EXACT [NCIT:C8107] synonym: "germ cell endodermal sinus tumor of ovary" EXACT [NCIT:C8107] synonym: "germ cell endodermal sinus tumor of the ovary" EXACT [NCIT:C8107] synonym: "germ cell endodermal sinus tumour of ovary" EXACT OMO:0003005 [] synonym: "germ cell endodermal sinus tumour of the ovary" EXACT OMO:0003005 [] synonym: "ovarian endodermal sinus neoplasm" EXACT [NCIT:C8107] synonym: "ovarian endodermal sinus tumor" EXACT [NCIT:C8107] synonym: "ovarian endodermal sinus tumour" EXACT OMO:0003005 [] synonym: "ovarian germ cell endodermal sinus neoplasm" EXACT [NCIT:C8107] synonym: "ovarian germ cell endodermal sinus tumor" EXACT [NCIT:C8107] synonym: "ovarian germ cell endodermal sinus tumour" EXACT OMO:0003005 [] synonym: "ovarian yolk Sac neoplasm" EXACT [NCIT:C8107] synonym: "ovarian yolk sac tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "ovarian yolk sac tumor" EXACT [DOID:5350, MONDO:0003407, NCIT:C8107] synonym: "ovarian yolk sac tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "ovary yolk sac tumor" EXACT [MONDO:patterns/location] synonym: "ovary yolk sac tumour" EXACT OMO:0003005 [] synonym: "yolk Sac neoplasm of ovary" EXACT [NCIT:C8107] synonym: "yolk Sac neoplasm of the ovary" EXACT [NCIT:C8107] synonym: "yolk sac tumor" RELATED [ONCOTREE:OYST] synonym: "yolk Sac tumor of ovary" EXACT [NCIT:C8107] synonym: "yolk Sac tumor of the ovary" EXACT [NCIT:C8107] synonym: "yolk sac tumour" RELATED OMO:0003005 [] synonym: "yolk Sac tumour of ovary" EXACT OMO:0003005 [] synonym: "yolk Sac tumour of the ovary" EXACT OMO:0003005 [] xref: DOID:5350 {source="MONDO:equivalentTo"} xref: EFO:1000437 {source="MONDO:equivalentTo"} xref: MONDO:0006344 xref: NCIT:C8107 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:5350", source="EFO:1000437"} xref: NCIT:C8107 {source="MONDO:equivalentTo", source="DOID:5350", source="EFO:1000437"} xref: ONCOTREE:OYST {source="MONDO:equivalentTo"} xref: SCTID:254876005 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:5350"} xref: SCTID:254876005 {source="MONDO:equivalentTo", source="DOID:5350"} xref: UMLS:C0346188 {source="MONDO:equivalentTo", source="NCIT:C8107", source="DOID:5350"} is_a: EFO:0007252 {source="MONDO:Redundant", source="NCIT:C8107"} ! endodermal sinus tumor is_a: MONDO:0016096 {source="MONDO:Redundant", source="NCIT:C8107"} ! malignant non-dysgerminomatous germ cell tumor of ovary property_value: exactMatch DOID:5350 property_value: exactMatch DOID:5350 property_value: exactMatch http://identifiers.org/snomedct/254876005 property_value: exactMatch http://identifiers.org/snomedct/254876005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346188 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346188 property_value: exactMatch NCIT:C8107 property_value: exactMatch NCIT:C8107 [Term] id: EFO:1000438 name: Palmar Fibromatosis def: "A superficial fibromatosis arising from the soft tissue of the palm. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It predominantly affects adult males." [NCIT:C3469] synonym: "Dupuytren contracture" EXACT [MONDO:ambiguous, NCIT:C3469] synonym: "Dupuytren contracture (disease)" EXACT [MONDO:0005360] synonym: "Dupuytren's contracture" RELATED [NCIT:C3469] synonym: "palmar fibromatosis" EXACT [] {comment="preferred label from MONDO"} synonym: "palmar fibromatosis" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "palmar fibromatosis" EXACT [NCIT:C3469] synonym: "palmar part of manus fibromatosis" EXACT [MONDO:patterns/location] xref: EFO:0004229 {source="MONDO:equivalentTo"} xref: EFO:1000438 {source="MONDO:equivalentTo"} xref: HP:0005679 {source="MONDO:otherHierarchy"} xref: MESH:D004387 {source="MONDO:equivalentTo", source="EFO:0004229"} xref: MONDO:0006345 xref: NCIT:C3469 {source="MONDO:equivalentTo", source="EFO:1000438", source="NCIT:C3469"} xref: SCTID:203045001 {source="MONDO:equivalentTo"} xref: SCTID:274142002 {source="EFO:0004229", source="MONDO:directSiblingOf"} is_a: EFO:1000556 {source="NCIT:C3469"} ! Superficial Fibromatosis property_value: closeMatch http://identifiers.org/snomedct/410812005 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0013312 property_value: exactMatch http://identifiers.org/mesh/D004387 property_value: exactMatch http://identifiers.org/mesh/D004387 property_value: exactMatch http://identifiers.org/snomedct/203045001 property_value: exactMatch http://identifiers.org/snomedct/203045001 property_value: exactMatch NCIT:C3469 property_value: exactMatch NCIT:C3469 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1000439 name: Pancreatic Acinar Cell Carcinoma def: "An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis." [NCIT:C7977] subset: ordo_disease {source="Orphanet:424046"} synonym: "acinar cell adenocarcinoma of pancreas" EXACT [NCIT:C7977] synonym: "acinar cell adenocarcinoma of the pancreas" EXACT [NCIT:C7977] synonym: "acinar cell carcinoma of pancreas" EXACT [MONDO:0018522, NCIT:C7977] synonym: "acinar cell carcinoma of the pancreas" EXACT [NCIT:C7977] synonym: "carcinoma of pancreatic acinar cell" EXACT [MONDO:patterns/carcinoma] synonym: "PAAC" RELATED ABBREVIATION [ONCOTREE:PAAC] synonym: "pancreas acinar cell adenocarcinoma" EXACT [NCIT:C7977] synonym: "pancreatic acinar cell adenocarcinoma" EXACT [MONDO:0003623, NCIT:C7977] synonym: "Pancreatic acinar cell cancer" EXACT [NCIT:C7977] synonym: "pancreatic acinar cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "pancreatic acinar cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "pancreatic acinar cell carcinoma" EXACT [DOID:5742, MONDO:patterns/location, NCIT:C7977, Orphanet:424046] xref: DOID:5742 {source="MONDO:equivalentTo"} xref: EFO:1000439 {source="MONDO:equivalentTo"} xref: ICD10:C25.0 {source="ORDO:424046/nd", source="Orphanet:424046"} xref: ICD10:C25.1 {source="ORDO:424046/nd", source="Orphanet:424046"} xref: ICD10:C25.2 {source="ORDO:424046/nd", source="Orphanet:424046"} xref: ICD10:C25.7 {source="ORDO:424046/nd", source="Orphanet:424046"} xref: ICD10:C25.8 {source="ORDO:424046/nd", source="Orphanet:424046"} xref: MONDO:0006346 xref: NCIT:C7977 {source="DOID:5742", source="MONDO:equivalentTo", source="EFO:1000439"} xref: ONCOTREE:PAAC {source="MONDO:equivalentTo"} xref: Orphanet:424046 {source="MONDO:equivalentTo"} xref: UMLS:C0279661 {source="DOID:5742", source="MONDO:equivalentTo", source="NCIT:C7977", source="Orphanet:424046"} is_a: EFO:0000216 {source="DOID:5742", source="EFO:1000439", source="MONDO:Redundant", source="NCIT:C7977"} ! acinar cell carcinoma is_a: EFO:1000044 {source="DOID:5742", source="MONDO:Redundant", source="NCIT:C7977"} ! pancreatic adenocarcinoma relationship: EFO:0000784 CL:0000622 ! has_disease_location acinar cell relationship: has_characteristic MONDO:0021136 {source="MONDO:0016314"} ! rare property_value: exactMatch DOID:5742 property_value: exactMatch DOID:5742 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279661 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279661 property_value: exactMatch NCIT:C7977 property_value: exactMatch NCIT:C7977 property_value: exactMatch Orphanet:424046 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:1000440 name: Pancreatic Gastrinoma def: "A neuroendocrine tumor arising from the pancreas. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. The latter is characterized by the presence of peptic ulcer, gastroesophageal reflux disease, abdominal pain, diarrhea, and malabsorption." [] xref: NCIt:C95596 is_a: EFO:0003769 ! endocrine neoplasm is_a: EFO:0009605 ! pancreas disease [Term] id: EFO:1000441 name: Pancreatic Glucagonoma def: "A usually malignant, glucagon-producing neuroendocrine tumor arising from the pancreatic alpha cells. It may be associated with necrolytic erythema migrans, diarrhea, diabetes, glossitis, weight loss, malabsorption, and anemia. Almost 25% of patients experience thromboembolic complications, and 50% have liver metastases at the time of diagnosis." [] xref: NCIt:C95597 is_a: EFO:0003769 ! endocrine neoplasm is_a: EFO:0009605 ! pancreas disease [Term] id: EFO:1000442 name: Pancreatic Large Cell Neuroendocrine Carcinoma def: "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells." [NCIT:C95582] synonym: "large cell neuroendocrine carcinoma of pancreas" EXACT [MONDO:design_pattern] synonym: "pancreas large cell neuroendocrine carcinoma" EXACT [MONDO:patterns/location] synonym: "pancreatic large cell NEC" EXACT [NCIT:C95582] synonym: "pancreatic large cell NEC G3" EXACT [NCIT:C95582] synonym: "pancreatic large cell neuroendocrine carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "pancreatic large cell neuroendocrine carcinoma" EXACT [NCIT:C95582] synonym: "pancreatic large cell neuroendocrine carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:1000442 {source="MONDO:equivalentTo"} xref: MONDO:0006347 xref: NCIT:C95582 {source="MONDO:equivalentTo", source="EFO:1000442", source="exact-label-match"} xref: NCIT:C95582 {source="MONDO:equivalentTo", source="EFO:1000442", source="MONDO:exact-label-match"} xref: UMLS:C2987239 {source="MONDO:equivalentTo", source="NCIT:C95582"} is_a: EFO:0000563 {source="EFO:1000442", source="MONDO:Redundant", source="NCIT:C95582"} ! large cell neuroendocrine carcinoma is_a: EFO:0002618 {source="EFO:1000442", source="MONDO:Redundant", source="MONDO:indirect"} ! pancreatic carcinoma is_a: EFO:0007416 {source="NCIT:C95582"} ! pancreatic endocrine carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2987239 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2987239 property_value: exactMatch NCIT:C95582 property_value: exactMatch NCIT:C95582 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:1000443 name: Pancreatic Precancerous Condition def: "A pathologic process that arises from the pancreas and has the potential to evolve into a malignant neoplasm." [] xref: NCIt:C7412 is_a: EFO:0003860 ! pancreatic neoplasm [Term] id: EFO:1000444 name: Pancreatic Small Cell Neuroendocrine Carcinoma def: "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant small cells." [NCIT:C95583] synonym: "endocrine pancreas small cell carcinoma" EXACT [MONDO:patterns/location] synonym: "pancreatic small cell NEC" EXACT [NCIT:C95583] synonym: "pancreatic small cell NEC G3" EXACT [NCIT:C95583] synonym: "pancreatic small cell neuroendocrine carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "pancreatic small cell neuroendocrine carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "pancreatic small cell neuroendocrine carcinoma" EXACT [NCIT:C95583] synonym: "small cell carcinoma of endocrine pancreas" EXACT [MONDO:design_pattern] xref: EFO:1000444 {source="MONDO:equivalentTo"} xref: MONDO:0006348 xref: NCIT:C95583 {source="MONDO:equivalentTo", source="EFO:1000444"} xref: UMLS:C2987240 {source="MONDO:equivalentTo", source="NCIT:C95583"} is_a: EFO:0007416 {source="MONDO:Redundant", source="NCIT:C95583"} ! pancreatic endocrine carcinoma is_a: EFO:0008524 {source="MONDO:Redundant", source="NCIT:C95583"} ! small cell carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2987240 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2987240 property_value: exactMatch NCIT:C95583 property_value: exactMatch NCIT:C95583 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/small_cell_carcinoma.yaml [Term] id: EFO:1000445 name: Pancreatic Vipoma def: "A usually malignant pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (VIP). It is associated with watery diarrhea, hypokalemia, and hypochlorhydria or achlorhydria. One third of cases are metastatic at the time of diagnosis." [] xref: NCIt:C95599 is_a: EFO:0003769 ! endocrine neoplasm is_a: EFO:0009605 ! pancreas disease [Term] id: EFO:1000446 name: Pancreatoblastoma def: "A rare malignant epithelial neoplasm arising from the pancreas. The vast majority of cases occur during childhood. It is characterized by acinar differentiation, the formation of squamoid corpuscles, and the formation of stromal bands. Patients may present with an abdominal mass. Symptoms include pain, weight loss, and diarrhea. It may metastasize to lymph nodes, liver, and distant anatomic sites. Children who do not have metastatic disease at the time of diagnosis usually have a favorable clinical outcome when treated with a combination of surgery and chemotherapy. However, children with metastatic disease at presentation or adult patients usually have a poor prognosis." [] xref: MedDRA:10073367 xref: NCIt:C4265 is_a: EFO:0003860 ! pancreatic neoplasm [Term] id: EFO:1000447 name: Papillary Craniopharyngioma def: "A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)" [] xref: MedDRA:10084813 xref: NCIt:C4725 is_a: EFO:0001379 ! endocrine system disease is_a: EFO:0002461 ! skeletal system disease is_a: EFO:0003833 ! brain neoplasm [Term] id: EFO:1000448 name: Papillary Cystic Neoplasm def: "A benign, malignant, or borderline neoplasm characterized by the presence of papillary mucinous, serous, or clear cell structures and cystic structures." [NCIT:C4179] synonym: "papillary cystic neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "papillary cystic neoplasm" EXACT [NCIT:C4179] synonym: "papillary cystic neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "papillary cystic tumor" EXACT [NCIT:C4179] synonym: "papillary cystic tumour" EXACT OMO:0003005 [] xref: EFO:1000448 {source="MONDO:equivalentTo"} xref: MONDO:0006349 xref: NCIT:C4179 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000448"} xref: NCIT:C4179 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000448"} xref: UMLS:C0334357 {source="MONDO:equivalentTo", source="NCIT:C4179"} is_a: MONDO:0021077 {source="NCIT:C4179"} ! cystic neoplasm is_a: MONDO:0021096 {source="NCIT:C4179"} ! papillary epithelial neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334357 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334357 property_value: exactMatch NCIT:C4179 property_value: exactMatch NCIT:C4179 [Term] id: EFO:1000449 name: Papillary Meningioma def: "A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern." [] xref: NCIt:C3904 is_a: EFO:0003851 ! meningeal neoplasm relationship: EFO:0000784 UBERON:0002360 ! has_disease_location meninx [Term] id: EFO:1000450 name: Papillary Transitional Cell Carcinoma def: "A non-invasive or invasive transitional cell carcinoma characterized by a papillary growth pattern. It may occur in the bladder or the renal pelvis." [NCIT:C4122] synonym: "papillary transitional carcinoma" EXACT [MONDO:0002835, NCIT:C4122] synonym: "papillary transitional cell carcinoma" EXACT [DOID:4012, NCIT:C4122] synonym: "papillary transitional cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "papillary transitional cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "papillary transitional cell carcinoma (morphologic abnormality)" EXACT [DOID:4012] xref: DOID:4012 {source="MONDO:equivalentTo"} xref: EFO:1000450 {source="MONDO:equivalentTo"} xref: ICDO:8130/3 {source="NCIT:C4122"} xref: MONDO:0006350 xref: NCIT:C4122 {source="DOID:4012", source="EFO:1000450", source="MONDO:equivalentTo"} xref: UMLS:C0334274 {source="DOID:4012", source="NCIT:C4122", source="MONDO:equivalentTo"} is_a: EFO:1000601 {source="DOID:4012", source="NCIT:C4122"} ! Transitional Cell Carcinoma is_a: EFO:1000646 {source="MONDO:Redundant", source="NCIT:C4122"} ! papillary carcinoma property_value: closeMatch http://identifiers.org/snomedct/12400006 property_value: exactMatch DOID:4012 property_value: exactMatch DOID:4012 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334274 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334274 property_value: exactMatch NCIT:C4122 property_value: exactMatch NCIT:C4122 [Term] id: EFO:1000451 name: Papillary Tumor of the Pineal Region def: "A rare tumor that arises from the pineal region and affects adults. It is characterized by the presence of neuroepithelial cells and a papillary architecture. Electron microscopic studies suggest ependymal differentiation. The clinical course is variable." [] xref: NCIt:C92624 is_a: EFO:0001379 ! endocrine system disease is_a: EFO:0003833 ! brain neoplasm [Term] id: EFO:1000452 name: Parachordoma def: "A rare, usually benign myoepithelial tumor characterized by the presence of epithelioid, often vacuolated neoplastic cells. Most patients present with painless swelling in the subcutaneous or subfascial soft tissues of the extremities." [NCIT:C6581] synonym: "parachordoma" EXACT [] {comment="preferred label from MONDO"} synonym: "parachordoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "parachordoma" EXACT [NCIT:C6581] xref: DOID:2647 {source="MONDO:equivalentTo"} xref: EFO:1000452 {source="MONDO:equivalentTo"} xref: ICDO:9373/0 {source="NCIT:C6581"} xref: ICDO:9373/1 {source="NCIT:C6581"} xref: MONDO:0006351 xref: NCIT:C6581 {source="EFO:1000452", source="MONDO:equivalentTo", source="DOID:2647", source="MONDO:exact-label-match"} xref: NCIT:C6581 {source="EFO:1000452", source="MONDO:equivalentTo", source="DOID:2647", source="exact-label-match"} xref: SCTID:404086000 {source="MONDO:equivalentTo", source="DOID:2647"} xref: UMLS:C1266175 {source="NCIT:C6581", source="MONDO:equivalentTo", source="DOID:2647"} is_a: MONDO:0002380 {source="NCIT:C6581"} ! myoepithelial tumor property_value: closeMatch http://identifiers.org/snomedct/128786009 property_value: exactMatch DOID:2647 property_value: exactMatch DOID:2647 property_value: exactMatch http://identifiers.org/snomedct/404086000 property_value: exactMatch http://identifiers.org/snomedct/404086000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266175 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266175 property_value: exactMatch NCIT:C6581 property_value: exactMatch NCIT:C6581 [Term] id: EFO:1000453 name: Paraganglioma def: "A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases." [NCIT:C3308] synonym: "chemodectoma" NARROW [DOID:0050773] synonym: "neoplasm of paraganglion" EXACT [NCIT:C3308] synonym: "neoplasm of the paraganglion" EXACT [NCIT:C3308] synonym: "paraganglioma" EXACT [] {comment="preferred label from MONDO"} synonym: "paraganglioma" EXACT [NCIT:C3308] synonym: "paragangliomas" EXACT [OMIMPS:168000] synonym: "paraganglion neoplasm" EXACT [NCIT:C3308] synonym: "paraganglion tumor" EXACT [NCIT:C3308] synonym: "paraganglion tumour" EXACT OMO:0003005 [] synonym: "Paraganglionic neoplasm" EXACT [NCIT:C3308] synonym: "Paraganglionic tumor" EXACT [NCIT:C3308] synonym: "Paraganglionic tumour" EXACT OMO:0003005 [] synonym: "tumor of paraganglion" EXACT [NCIT:C3308] synonym: "tumor of the paraganglion" EXACT [NCIT:C3308] synonym: "tumour of paraganglion" EXACT OMO:0003005 [] synonym: "tumour of the paraganglion" EXACT OMO:0003005 [] xref: DOID:0050773 {source="MONDO:equivalentTo"} xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8680/1 {source="NCIT:C3308"} xref: MedDRA:10073860 xref: MESH:D010235 {source="DOID:0050773", source="MONDO:equivalentTo"} xref: MONDO:0000448 xref: NCIT:C3308 {source="DOID:0050773", source="MONDO:equivalentTo"} xref: NCIt:C3308 xref: OMIM:618464 xref: OMIM:618475 xref: OMIMPS:168000 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: ONCOTREE:PGNG {source="MONDO:equivalentTo"} xref: SCTID:127027008 {source="DOID:0050773", source="MONDO:equivalentTo"} xref: UMLS:C0030421 {source="NCIT:C3308", source="DOID:0050773", source="MONDO:equivalentTo"} is_a: MONDO:0002366 {source="MONDO:Redundant", source="NCIT:C3308"} ! autonomic nervous system neoplasm is_a: MONDO:0021635 {source="Wikipedia:Neurocristopathy"} ! neurocristopathy is_a: MONDO:0025511 ! inherited neuroendocrine tumor property_value: exactMatch DOID:0050773 property_value: exactMatch http://identifiers.org/mesh/D010235 property_value: exactMatch http://identifiers.org/snomedct/127027008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030421 property_value: exactMatch https://omim.org/phenotypicSeries/PS168000 property_value: exactMatch NCIT:C3308 [Term] id: EFO:1000454 name: Paranasal Sinus Adenoid Cystic Carcinoma def: "A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases." [NCIT:C6019] synonym: "accessory sinus adenoid cystic carcinoma" EXACT [NCIT:C6019] synonym: "adenoid cystic carcinoma of accessory sinus" EXACT [NCIT:C6019] synonym: "adenoid cystic carcinoma of paranasal sinus" EXACT [NCIT:C6019] synonym: "adenoid cystic carcinoma of the accessory sinus" EXACT [NCIT:C6019] synonym: "adenoid cystic carcinoma of the paranasal sinus" EXACT [NCIT:C6019] synonym: "paranasal sinus adenoid cystic carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "paranasal sinus adenoid cystic carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "paranasal sinus adenoid cystic carcinoma" EXACT [MONDO:patterns/location, NCIT:C6019] xref: EFO:1000454 {source="MONDO:equivalentTo"} xref: MONDO:0006352 xref: NCIT:C6019 {source="EFO:1000454", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C6019 {source="EFO:1000454", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1335337 {source="MONDO:equivalentTo", source="NCIT:C6019"} is_a: EFO:0000231 {source="EFO:1000454", source="MONDO:Redundant", source="NCIT:C6019"} ! adenoid cystic carcinoma is_a: MONDO:0000380 ! paranasal sinus carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335337 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335337 property_value: exactMatch NCIT:C6019 property_value: exactMatch NCIT:C6019 [Term] id: EFO:1000455 name: Paranasal Sinus Schneiderian Papilloma def: "A papilloma that arises from the ciliated respiratory mucosa that lines the paranasal sinuses. It is classified as inverted papilloma and oncocytic papilloma." [NCIT:C6835] synonym: "accessory sinus Schneiderian papilloma" RELATED [NCIT:C6835] synonym: "paranasal sinus Schneiderian papilloma" EXACT [NCIT:C6835] synonym: "paranasal sinus Schneiderian papilloma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "paranasal sinus Schneiderian papilloma" EXACT [] {comment="preferred label from MONDO"} synonym: "Schneiderian papilloma of accessory sinus" RELATED [NCIT:C6835] synonym: "Schneiderian papilloma of paranasal sinus" RELATED [NCIT:C6835] synonym: "Schneiderian papilloma of the accessory sinus" RELATED [NCIT:C6835] synonym: "Schneiderian papilloma of the paranasal sinus" RELATED [NCIT:C6835] xref: EFO:1000455 {source="MONDO:equivalentTo"} xref: MONDO:0006353 xref: NCIT:C6835 {source="MONDO:equivalentTo", source="EFO:1000455"} xref: UMLS:C1335343 {source="MONDO:equivalentTo", source="NCIT:C6835"} is_a: EFO:0003866 {source="EFO:1000455", source="NCIT:C6835/inferred"} ! paranasal sinus neoplasm is_a: MONDO:0000382 ! respiratory system benign neoplasm is_a: MONDO:0000631 ! bone benign neoplasm is_a: MONDO:0000633 ! sensory organ benign neoplasm is_a: MONDO:0021078 {source="NCIT:C6835/inferred", source="NCIT:inferred"} ! glandular papilloma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335343 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335343 property_value: exactMatch NCIT:C6835 property_value: exactMatch NCIT:C6835 [Term] id: EFO:1000456 name: Parathyroid Gland Carcinoma def: "A very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors." [https://orcid.org/0000-0001-5208-3432, Orphanet:143] def: "Parathyroid carcinoma (PRTC) is a very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors." [Orphanet:143] subset: ordo_disease {source="Orphanet:143"} synonym: "adenocarcinoma of parathyroid" EXACT [NCIT:C4906] synonym: "adenocarcinoma of parathyroid gland" EXACT [NCIT:C4906] synonym: "adenocarcinoma of the parathyroid" EXACT [NCIT:C4906] synonym: "adenocarcinoma of the parathyroid gland" EXACT [NCIT:C4906] synonym: "cancer of parathyroid gland" BROAD [NCIT:C4906] synonym: "cancer of parathyroid gland" EXACT [NCIT:C4906] synonym: "cancer of the parathyroid gland" BROAD [NCIT:C4906] synonym: "cancer of the parathyroid gland" EXACT [NCIT:C4906] synonym: "carcinoma of parathyroid" EXACT [NCIT:C4906] synonym: "carcinoma of parathyroid gland" EXACT [DOID:1540, MONDO:patterns/carcinoma, NCIT:C4906] synonym: "carcinoma of the parathyroid" EXACT [NCIT:C4906] synonym: "carcinoma of the parathyroid gland" EXACT [NCIT:C4906] synonym: "malignant neoplasm of parathyroid gland" BROAD [DOID:1540, ICD9CM:194.1] synonym: "malignant neoplasm of parathyroid gland" EXACT [DOID:1540, ICD9CM_2006:194.1] synonym: "malignant neoplasm of the parathyroid" BROAD [DOID:1540, NCIT:C9322] synonym: "malignant neoplasm of the parathyroid" EXACT [DOID:1540, NCIT:C9322] synonym: "malignant tumour of parathyroid gland" BROAD OMO:0003005 [] synonym: "parathyroid adenocarcinoma" EXACT [NCIT:C4906] synonym: "parathyroid cancer" BROAD [NCIT:C4906] synonym: "parathyroid cancer" EXACT [NCIT:C4906] synonym: "parathyroid carcinoma" EXACT [NCIT:C4906, OMIM:608266] synonym: "parathyroid gland adenocarcinoma" EXACT [DOID:1540, NCIT:C4906] synonym: "parathyroid gland cancer" BROAD [DOID:1540, NCIT:C4906] synonym: "parathyroid gland cancer" EXACT [DOID:1540, NCIT:C4906] synonym: "parathyroid gland carcinoma" EXACT [MONDO:patterns/location, NCIT:C4906] synonym: "parathyroid gland carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "parathyroid gland carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "parathyroid gland neoplasm" BROAD [DOID:1540, NCIT:C3313] synonym: "parathyroid gland neoplasm" EXACT [DOID:1540, NCIT:C3313] synonym: "parathyroid neoplasm" BROAD [DOID:1540] synonym: "parathyroid neoplasm" EXACT [CSP2005:2009-6398, DOID:1540] synonym: "PRTC" RELATED ABBREVIATION [OMIM:608266] xref: DOID:1540 {source="MONDO:equivalentTo"} xref: EFO:1000456 {source="MONDO:equivalentTo"} xref: GARD:0007329 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: ICD10:C75.0 {source="DOID:1540", source="ORDO:143/ntbt", source="Orphanet:143"} xref: ICD9:194.1 {source="DOID:1540"} xref: ICD9:194.1 {source="MONDO:subClassOf", source="DOID:1540"} xref: MONDO:0012004 xref: NCIT:C4906 {source="DOID:1540", source="MONDO:equivalentTo", source="EFO:1000456"} xref: NCIT:C4906 {source="DesignPattern", source="DOID:1540", source="MONDO:equivalentTo", source="EFO:1000456"} xref: OMIM:608266 {source="DOID:1540", source="MONDO:equivalentTo", source="EFO:1000456", source="ORDO:143/e", source="Orphanet:143"} xref: OMIM:608266 {source="DOID:1540", source="Orphanet:143/e", source="MONDO:equivalentTo", source="EFO:1000456", source="Orphanet:143"} xref: ONCOTREE:PTHC {source="MONDO:equivalentTo"} xref: Orphanet:143 {source="MONDO:equivalentTo", source="OMIM:608266"} xref: SCTID:255037004 {source="DOID:1540", source="MONDO:equivalentTo"} is_a: EFO:0000228 {source="NCIT:C4906"} ! adenocarcinoma is_a: MONDO:0021311 {source="MONDO:Redundant", source="NCIT:C4906", source="ONCOTREE:PTHC"} ! malignant tumor of parathyroid gland relationship: has_characteristic MONDO:0021136 {source="MONDO:0015076"} ! rare property_value: closeMatch http://identifiers.org/mesh/D010282 property_value: closeMatch http://identifiers.org/snomedct/93943008 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0030521 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153653 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0687150 property_value: exactMatch DOID:1540 property_value: exactMatch DOID:1540 property_value: exactMatch http://identifiers.org/omim/608266 property_value: exactMatch http://identifiers.org/snomedct/255037004 property_value: exactMatch http://identifiers.org/snomedct/255037004 property_value: exactMatch https://omim.org/entry/608266 property_value: exactMatch NCIT:C4906 property_value: exactMatch NCIT:C4906 property_value: exactMatch Orphanet:143 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:1000457 name: Parathyroid Hyperplasia def: "A hyperplasia that involves the parathyroid gland." [MONDO:patterns/location] def: "Parathyroid hyperplasia is the enlargement of all four parathyroid glands. The parathyroid glands are glands in the neck that produce parathyroid hormone (PTH). (https://www.nlm.nih.gov/medlineplus/ency/article/001189.htm)" [] synonym: "hyperplasia of parathyroid" EXACT [NCIT:C3989] synonym: "hyperplasia of the parathyroid" EXACT [NCIT:C3989] synonym: "parathyroid gland hyperplasia" EXACT [MONDO:patterns/location] synonym: "parathyroid hyperplasia" EXACT [MONDO:ambiguous, NCIT:C3989] synonym: "parathyroid hyperplasia" EXACT [] {comment="preferred label from MONDO"} synonym: "parathyroid hyperplasia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0008208 {source="MONDO:otherHierarchy"} xref: MedDRA:10079611 xref: MONDO:0006354 xref: NCIT:C3989 {source="MONDO:equivalentTo", source="EFO:1000457"} xref: NCIt:C3989 xref: SCTID:9092004 {source="MONDO:equivalentTo"} xref: UMLS:C0271844 {source="MONDO:equivalentTo", source="NCIT:C3989"} is_a: EFO:0000536 {source="EFO:1000457", source="MONDO:Redundant", source="NCIT:C3989"} ! hyperplasia is_a: EFO:0005754 {source="MONDO:Redundant"} ! parathyroid disease property_value: exactMatch http://identifiers.org/snomedct/9092004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271844 property_value: exactMatch NCIT:C3989 property_value: IAO:0000589 "parathyroid hyperplasia (disease)" xsd:string [Term] id: EFO:1000458 name: Parotid Gland Acinic Cell Carcinoma def: "An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area." [NCIT:C5933] synonym: "acinic cell carcinoma of parotid" RELATED [NCIT:C5933] synonym: "acinic cell carcinoma of parotid gland" RELATED [NCIT:C5933] synonym: "acinic cell carcinoma of the parotid" RELATED [NCIT:C5933] synonym: "acinic cell carcinoma of the parotid gland" RELATED [NCIT:C5933] synonym: "parotid acinic cell carcinoma" RELATED [NCIT:C5933] synonym: "parotid gland acinar cell carcinoma" EXACT [MONDO:patterns/location] synonym: "parotid gland acinic cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "parotid gland acinic cell carcinoma" EXACT [NCIT:C5933] synonym: "parotid gland acinic cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:1000458 {source="MONDO:equivalentTo"} xref: MONDO:0006355 xref: NCIT:C5933 {source="MONDO:equivalentTo", source="EFO:1000458", source="NCIT:C5933"} xref: UMLS:C1335353 {source="MONDO:equivalentTo", source="NCIT:C5933"} is_a: EFO:0000216 {source="EFO:1000458", source="MONDO:Redundant", source="NCIT:C5933/inferred"} ! acinar cell carcinoma is_a: EFO:1000460 {source="MONDO:Redundant", source="NCIT:C5933/inferred"} ! Parotid Gland Carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335353 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335353 property_value: exactMatch NCIT:C5933 property_value: exactMatch NCIT:C5933 [Term] id: EFO:1000459 name: Parotid Gland Adenoid Cystic Carcinoma def: "An aggressive carcinoma that arises from the parotid gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." [NCIT:C5937] synonym: "adenoid cystic carcinoma of parotid" EXACT [NCIT:C5937] synonym: "adenoid cystic carcinoma of parotid gland" EXACT [NCIT:C5937] synonym: "adenoid cystic carcinoma of the parotid" EXACT [NCIT:C5937] synonym: "adenoid cystic carcinoma of the parotid gland" EXACT [NCIT:C5937] synonym: "parotid adenoid cystic carcinoma" EXACT [NCIT:C5937] synonym: "parotid gland adenoid cystic carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "parotid gland adenoid cystic carcinoma" EXACT [MONDO:patterns/location] synonym: "parotid gland adenoid cystic carcinoma" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0050931 {source="MONDO:equivalentTo"} xref: EFO:1000459 {source="MONDO:equivalentTo"} xref: MONDO:0006356 xref: NCIT:C5937 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000459"} xref: NCIT:C5937 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000459"} xref: SCTID:423615009 {source="MONDO:equivalentTo"} xref: UMLS:C1335355 {source="NCIT:C5937", source="MONDO:equivalentTo"} is_a: EFO:1000460 {source="MONDO:Redundant", source="NCIT:C5937"} ! Parotid Gland Carcinoma is_a: MONDO:0045063 ! major salivary gland adenoid cystic carcinoma property_value: exactMatch DOID:0050931 property_value: exactMatch DOID:0050931 property_value: exactMatch http://identifiers.org/snomedct/423615009 property_value: exactMatch http://identifiers.org/snomedct/423615009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335355 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335355 property_value: exactMatch NCIT:C5937 property_value: exactMatch NCIT:C5937 [Term] id: EFO:1000460 name: Parotid Gland Carcinoma def: "A carcinoma that arises from the parotid gland. Representative examples include mucoepidermoid carcinoma, adenoid cystic carcinoma, adenocarcinoma, and carcinoma ex pleomorphic adenoma." [] def: "A carcinoma that involves the parotid gland." [MONDO:patterns/location] synonym: "carcinoma of parotid" EXACT [NCIT:C6791] synonym: "carcinoma of parotid gland" EXACT [] {comment="preferred label from MONDO"} synonym: "carcinoma of parotid gland" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of the parotid" EXACT [NCIT:C6791] synonym: "carcinoma of the parotid gland" EXACT [NCIT:C6791] synonym: "parotid carcinoma" EXACT [NCIT:C6791] synonym: "parotid gland cancer" BROAD [NCIT:C6791] synonym: "parotid gland carcinoma" EXACT [MONDO:patterns/location, NCIT:C6791] xref: MONDO:0021331 xref: NCIT:C6791 {source="MONDO:equivalentTo"} xref: NCIt:C6791 xref: SCTID:254462001 {source="MONDO:equivalentTo"} xref: UMLS:C0345602 {source="NCIT:C6791", source="MONDO:equivalentTo"} is_a: EFO:1000344 {source="MONDO:Redundant", source="NCIT:C6791"} ! Major Salivary Gland Carcinoma is_a: MONDO:0004700 {source="MONDO:Redundant", source="NCIT:C6791"} ! parotid gland cancer property_value: exactMatch http://identifiers.org/snomedct/254462001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345602 property_value: exactMatch NCIT:C6791 [Term] id: EFO:1000461 name: Parotid Gland Carcinoma ex Pleomorphic Adenoma def: "A carcinoma that arises from a pleomorphic adenoma in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." [NCIT:C5974] synonym: "carcinoma ex pleomorphic adenoma of parotid" EXACT [NCIT:C5974] synonym: "carcinoma ex pleomorphic adenoma of parotid gland" EXACT [NCIT:C5974] synonym: "carcinoma ex pleomorphic adenoma of the parotid" EXACT [NCIT:C5974] synonym: "carcinoma ex pleomorphic adenoma of the parotid gland" EXACT [NCIT:C5974] synonym: "parotid carcinoma ex pleomorphic adenoma" EXACT [NCIT:C5974] synonym: "parotid gland carcinoma ex pleomorphic adenoma" EXACT [] {comment="preferred label from MONDO"} synonym: "parotid gland carcinoma ex pleomorphic adenoma" EXACT [MONDO:patterns/location, NCIT:C5974] synonym: "parotid gland carcinoma ex pleomorphic adenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:1000461 {source="MONDO:equivalentTo"} xref: MONDO:0006357 xref: NCIT:C5974 {source="EFO:1000461", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C5974 {source="EFO:1000461", source="MONDO:equivalentTo", source="exact-label-match"} xref: SCTID:425127006 {source="MONDO:equivalentTo"} xref: UMLS:C1335356 {source="MONDO:equivalentTo", source="NCIT:C5974"} is_a: EFO:1000345 {source="MONDO:Redundant", source="NCIT:C5974"} ! Major Salivary Gland Carcinoma ex Pleomorphic Adenoma is_a: EFO:1000460 {source="MONDO:Redundant", source="NCIT:C5974"} ! Parotid Gland Carcinoma property_value: exactMatch http://identifiers.org/snomedct/425127006 property_value: exactMatch http://identifiers.org/snomedct/425127006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335356 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335356 property_value: exactMatch NCIT:C5974 property_value: exactMatch NCIT:C5974 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql [Term] id: EFO:1000462 name: Parotid Gland Pleomorphic Adenoma def: "A benign, slow-growing tumor that arises from the parotid gland. It is composed of cells that demonstrate both epithelial and mesenchymal differentiation. It is the most common neoplasm of salivary gland origin and women are more often affected than men." [] xref: NCIt:C4650 is_a: EFO:0003826 ! salivary gland neoplasm [Term] id: EFO:1000463 name: Parotid Gland Squamous Cell Carcinoma def: "An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain." [NCIT:C5942] synonym: "parotid gland squamous cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "parotid gland squamous cell carcinoma" EXACT [MONDO:patterns/location] synonym: "parotid gland squamous cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "parotid squamous cell carcinoma" EXACT [NCIT:C5942] synonym: "squamous cell carcinoma of parotid" EXACT [NCIT:C5942] synonym: "squamous cell carcinoma of parotid gland" EXACT [NCIT:C5942] synonym: "squamous cell carcinoma of the parotid" EXACT [NCIT:C5942] synonym: "squamous cell carcinoma of the parotid gland" EXACT [NCIT:C5942] xref: EFO:1000463 {source="MONDO:equivalentTo"} xref: MONDO:0006358 xref: NCIT:C5942 {source="EFO:1000463", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C5942 {source="EFO:1000463", source="MONDO:equivalentTo", source="exact-label-match"} xref: UMLS:C1335367 {source="MONDO:equivalentTo", source="NCIT:C5942"} is_a: EFO:1000460 {source="MONDO:Redundant", source="NCIT:C5942"} ! Parotid Gland Carcinoma is_a: EFO:1001967 ! salivary gland squamous cell carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335367 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335367 property_value: exactMatch NCIT:C5942 property_value: exactMatch NCIT:C5942 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/squamous_cell_carcinoma.yaml [Term] id: EFO:1000464 name: PEComa def: "A soft tissue neoplasm composed of perivascular epithelioid cells. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis." [NCIT:C38150] comment: MeSH defintion: A family of mesenchymal tumors composed of histologically and immunohistochemically distinctive perivascular epithelioid cells. These cells do not have a normal anatomic homolog. (From Fletcher CDM, et. al., World Health Organization Classification of Tumors: Pathology and Genetics of Tumors of Soft Tissue and Bone, 2002). {source="EFO:1000464"} subset: ordo_disease synonym: "neoplasm with perivascular epithelioid cell differentiation" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "neoplasm with perivascular epithelioid cell differentiation" EXACT [DOID:2643, NCIT:C38150] synonym: "neoplasm with perivascular epithelioid cell differentiation" EXACT [] {comment="preferred label from MONDO"} synonym: "PEComa" EXACT [DOID:2643, Orphanet:595133] synonym: "PEComa" EXACT [DOID:2643] synonym: "perivascular epithelioid cell tumor" EXACT [DOID:2643, Orphanet:595133] synonym: "perivascular epithelioid cell tumor" RELATED [DOID:2643] synonym: "perivascular epithelioid cell tumour" EXACT OMO:0003005 [] synonym: "tumor with perivascular epithelioid cell differentiation" EXACT [NCIT:C38150] synonym: "tumour with perivascular epithelioid cell differentiation" EXACT OMO:0003005 [] xref: DOID:2643 {source="MONDO:equivalentTo", source="EFO:1000464"} xref: EFO:1000464 {source="MONDO:equivalentTo"} xref: MESH:D054973 {source="MONDO:equivalentTo", source="DOID:2643", source="EFO:1000464"} xref: MONDO:0006359 xref: NCIT:C38150 {source="MONDO:equivalentTo", source="DOID:2643", source="EFO:1000464"} xref: ONCOTREE:PECOMA {source="MONDO:equivalentTo"} xref: Orphanet:595133 {source="MONDO:equivalentTo"} xref: UMLS:C1300127 {source="MONDO:equivalentTo", source="DOID:2643", source="NCIT:C38150"} is_a: EFO:1000541 {source="NCIT:C38150/inferred", source="ONCOTREE:PECOMA", source="Orphanet:595133"} ! Soft Tissue Neoplasm property_value: closeMatch http://identifiers.org/snomedct/388601000 property_value: exactMatch DOID:2643 property_value: exactMatch DOID:2643 property_value: exactMatch http://identifiers.org/mesh/D054973 property_value: exactMatch http://identifiers.org/mesh/D054973 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1300127 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1300127 property_value: exactMatch NCIT:C38150 property_value: exactMatch NCIT:C38150 property_value: exactMatch Orphanet:595133 property_value: excluded_subClassOf MONDO:0002604 {source="DOID:2643"} [Term] id: EFO:1000465 name: Penile Carcinoma def: "A carcinoma that arises from epithelial cells of the penis" [https://orcid.org/0000-0002-6601-2165] def: "A carcinoma that arises from epithelial cells of the penis" [MONDO:DesignPattern] synonym: "cancer of penis" BROAD [NCIT:C9061] synonym: "cancer of penis" EXACT [NCIT:C9061] synonym: "cancer of the penis" BROAD [NCIT:C9061] synonym: "cancer of the penis" EXACT [NCIT:C9061] synonym: "cancer penis" BROAD [GARD:0009366] synonym: "cancer penis" RELATED [GARD:0009366] synonym: "carcinoma of penis" EXACT [MONDO:patterns/carcinoma, NCIT:C9061] synonym: "carcinoma of the penis" EXACT [NCIT:C9061] synonym: "penile cancer" BROAD [NCIT:C9061] synonym: "penile cancer, adult" NARROW [GARD:0009366] synonym: "penile cancer, adult" RELATED [GARD:0009366] synonym: "penile carcinoma" EXACT [DOID:3449, NCIT:C9061] synonym: "penile carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "penile carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "penis carcinoma" EXACT [MONDO:patterns/location] xref: DOID:3449 {source="EFO:1000465", source="MONDO:equivalentTo"} xref: EFO:1000465 {source="MONDO:equivalentTo"} xref: GARD:0009366 {source="MONDO:equivalentTo"} xref: MONDO:0006360 xref: NCIT:C9061 {source="EFO:1000465", source="MONDO:equivalentTo", source="DOID:3449"} xref: SCTID:372106005 {source="MONDO:equivalentTo", source="DOID:3449"} is_a: EFO:0000313 {source="DOID:3449", source="EFO:1000465", source="MONDO:Redundant", source="NCIT:C9061"} ! carcinoma is_a: MONDO:0001325 {source="DOID:3449", source="MONDO:Redundant", source="NCIT:C9061"} ! penile cancer property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0853105 property_value: exactMatch DOID:3449 property_value: exactMatch DOID:3449 property_value: exactMatch http://identifiers.org/snomedct/372106005 property_value: exactMatch http://identifiers.org/snomedct/372106005 property_value: exactMatch NCIT:C9061 property_value: exactMatch NCIT:C9061 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:1000466 name: Penile Fibromatosis def: "Fibromatosis arising from the soft tissues of the penis. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It causes the penis to bend when it becomes erect." [NCIT:P378] synonym: "penile fibromatosis" EXACT [] {comment="preferred label from MONDO"} synonym: "penile fibromatosis" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "penile fibromatosis" EXACT [NCIT:C3316] synonym: "penile induration" EXACT [NCIT:C3316] synonym: "penis fibromatosis" EXACT [MONDO:patterns/location] synonym: "Peyronie's disease" EXACT [NCIT:C3316] synonym: "Peyronie's disease" RELATED [NCIT:C3316] synonym: "Peyronie's fibromatosis" EXACT [NCIT:C3316] xref: EFO:1000466 {source="MONDO:equivalentTo"} xref: MONDO:0006361 xref: NCIT:C3316 {source="MONDO:equivalentTo", source="EFO:1000466"} xref: UMLS:C0030848 {source="MONDO:relatedTo", source="NCIT:C3316"} is_a: EFO:1000556 {source="NCIT:C3316"} ! Superficial Fibromatosis is_a: EFO:1001094 ! penile neoplasm property_value: exactMatch NCIT:C3316 property_value: exactMatch NCIT:C3316 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1000467 name: Peritoneal Mesothelioma def: "A benign or malignant mesothelial neoplasm that arises from the peritoneum." [NCIT:C7633] synonym: "mesothelioma of peritoneum" EXACT [NCIT:C7633] synonym: "mesothelioma of the peritoneum" EXACT [NCIT:C7633] synonym: "peritoneal mesothelioma" EXACT [] {comment="preferred label from MONDO"} synonym: "peritoneal mesothelioma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "peritoneal mesothelioma" EXACT [MONDO:ambiguous, NCIT:C7633] synonym: "peritoneal mesothelioma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "peritoneum mesothelioma" EXACT [MONDO:patterns/location] xref: EFO:1000467 {source="MONDO:equivalentTo"} xref: HP:0100003 {source="MONDO:otherHierarchy"} xref: ICD10:C45.1 {source="DOID:1788"} xref: MONDO:0006362 xref: NCIT:C7633 {source="MONDO:equivalentTo", source="EFO:1000467"} xref: ONCOTREE:PEMESO {source="MONDO:equivalentTo"} xref: SCTID:109853004 {source="MONDO:equivalentTo", source="DOID:1788"} is_a: EFO:0000588 {source="EFO:1000467", source="MONDO:Redundant", source="NCIT:C7633"} ! mesothelioma is_a: EFO:1001100 {source="MONDO:Redundant", source="NCIT:C7633"} ! peritoneal neoplasm property_value: closeMatch http://identifiers.org/snomedct/187806007 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0854886 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1377610 property_value: exactMatch http://identifiers.org/snomedct/109853004 property_value: exactMatch http://identifiers.org/snomedct/109853004 property_value: exactMatch NCIT:C7633 property_value: exactMatch NCIT:C7633 property_value: IAO:0000589 "peritoneal mesothelioma (disease)" xsd:string [Term] id: EFO:1000468 name: Peritoneal Multicystic Mesothelioma def: "A cystic mesothelioma that arises from the peritoneum and usually affects young to middle aged females. Grossly, it presents as a large multiloculated tumor mass, usually in the pelvic peritoneum. Histologically it is characterized by the presence of multiple cysts that are lined by one or more layers of mesothelial cells that do not show atypia. Patients usually present with abdominal or pelvic mass and pain. The clinical course is indolent. The tumor may recur, but transformation to diffuse malignant mesothelioma is rare." [NCIT:C6536] subset: ordo_disease {source="Orphanet:168816"} synonym: "benign cystic peritoneal mesothelioma" RELATED [GARD:0010777] synonym: "benign multicystic peritoneal mesothelioma" EXACT [Orphanet:168816] synonym: "benign multicystic peritoneal mesothelioma" NARROW [Orphanet:168816] synonym: "BMPM" RELATED ABBREVIATION [GARD:0010777] synonym: "multicystic mesothelioma" EXACT [Orphanet:168816] synonym: "multicystic mesothelioma of peritoneum" EXACT [NCIT:C6536] synonym: "multicystic mesothelioma of the peritoneum" EXACT [NCIT:C6536] synonym: "multilocular peritoneal cysts" RELATED [GARD:0010777] synonym: "multilocular peritoneal inclusion cyst" EXACT [NCIT:C6536, Orphanet:168816] synonym: "multilocular peritoneal inclusion cysts" RELATED [GARD:0010777] synonym: "peritoneal cystic mesothelioma" EXACT [MONDO:0015685, Orphanet:168816] synonym: "peritoneal multicystic mesothelioma" EXACT [] {comment="preferred label from MONDO"} synonym: "peritoneal multicystic mesothelioma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "peritoneal multicystic mesothelioma" EXACT [NCIT:C6536] xref: EFO:1000468 {source="MONDO:equivalentTo"} xref: GARD:0010777 {source="MONDO:equivalentTo"} xref: ICD10:C45.1 {source="ORDO:168816/ntbt", source="Orphanet:168816"} xref: MONDO:0006363 xref: NCIT:C6536 {source="MONDO:equivalentTo", source="EFO:1000468"} xref: Orphanet:168816 {source="MONDO:equivalentTo"} xref: SCTID:716650003 {source="MONDO:equivalentTo"} xref: UMLS:C1334818 {source="MONDO:equivalentTo", source="NCIT:C6536"} is_a: EFO:1000467 {source="NCIT:C6536"} ! Peritoneal Mesothelioma is_a: MONDO:0015683 {source="Orphanet:168816"} ! primary malignant peritoneal tumor property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0206680 property_value: exactMatch http://identifiers.org/snomedct/716650003 property_value: exactMatch http://identifiers.org/snomedct/716650003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334818 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334818 property_value: exactMatch NCIT:C6536 property_value: exactMatch NCIT:C6536 property_value: exactMatch Orphanet:168816 [Term] id: EFO:1000469 name: Peritoneal Well Differentiated Papillary Mesothelioma def: "A localized or multifocal mesothelioma arising from the peritoneum. It predominantly occurs in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to diffuse malignant mesothelioma." [NCIT:C45661] synonym: "peritoneal WDPM" EXACT [NCIT:C45661] synonym: "peritoneal well differentiated papillary mesothelioma" EXACT [] {comment="preferred label from MONDO"} synonym: "peritoneal well differentiated papillary mesothelioma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "peritoneal well differentiated papillary mesothelioma" EXACT [NCIT:C45661] xref: EFO:1000469 {source="MONDO:equivalentTo"} xref: MONDO:0006364 xref: NCIT:C45661 {source="MONDO:equivalentTo", source="EFO:1000469", source="MONDO:exact-label-match"} xref: NCIT:C45661 {source="MONDO:equivalentTo", source="EFO:1000469", source="exact-label-match"} xref: UMLS:C1709507 {source="MONDO:equivalentTo", source="NCIT:C45661"} is_a: EFO:1000467 {source="MONDO:Redundant", source="NCIT:C45661"} ! Peritoneal Mesothelioma is_a: MONDO:0003688 {source="NCIT:C45661"} ! well differentiated papillary mesothelioma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709507 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709507 property_value: exactMatch NCIT:C45661 property_value: exactMatch NCIT:C45661 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql [Term] id: EFO:1000470 name: Peutz-Jeghers Polyp def: "A hamartomatous polyp that occurs in the stomach, small and large intestines, and rarely within the esophagus, nasopharynx and the urinary tract. The Peutz-Jeghers polyps are grossly lobulated and dark. Microscopically, they have a central core of smooth muscle covered by mucosa. The smooth muscle shows tree-like branching. The question of whether or not the Peutz-Jeghers polyp is precancerous is a matter of controversy. The loss of heterozygosity on chromosome 19p (where the responsible gene LKB1 is located) suggests that the increased risk of malignancy may be due to malignant transformation from hamartoma to adenocarcinoma. --2002" [NCIT:P378] synonym: "Peutz Jeghers polyp" EXACT [NCIT:C4733] synonym: "Peutz-Jeghers polyp" EXACT [NCIT:C4733] synonym: "Peutz-Jeghers polyp" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0006365 xref: NCIT:C4733 {source="EFO:1000470", source="MONDO:equivalentTo"} xref: NCIt:C4733 is_a: EFO:1000280 {source="NCIT:C4733"} ! Gastrointestinal Hamartoma property_value: exactMatch NCIT:C4733 [Term] id: EFO:1000471 name: Peutz-Jeghers Polyp of the Stomach def: "A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." [NCIT:P378] synonym: "Gastric Peutz-Jeghers polyp" EXACT [NCIT:C36205] synonym: "Peutz-Jeghers polyp of the stomach" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "Peutz-Jeghers polyp of the stomach" EXACT [] {comment="preferred label from MONDO"} xref: EFO:1000471 {source="MONDO:equivalentTo"} xref: MONDO:0006366 xref: NCIT:C36205 {source="EFO:1000471", source="MONDO:equivalentTo"} xref: UMLS:C1335398 {source="MONDO:equivalentTo", source="NCIT:C36205"} is_a: EFO:1000271 ! Gastric Hamartomatous Polyp is_a: EFO:1000470 ! Peutz-Jeghers Polyp property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335398 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335398 property_value: exactMatch NCIT:C36205 property_value: exactMatch NCIT:C36205 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: excluded_subClassOf MONDO:0008280 {source="EFO:1000471"} property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:1000472 name: Pharyngeal Adenoid Cystic Carcinoma def: "An adenoid cystic carcinoma that arises from the pharynx." [NCIT:C5818] synonym: "adenoid cystic carcinoma of pharynx" EXACT [NCIT:C5818] synonym: "adenoid cystic carcinoma of the pharynx" EXACT [NCIT:C5818] synonym: "pharyngeal adenoid cystic carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "pharyngeal adenoid cystic carcinoma" EXACT [NCIT:C5818] synonym: "pharyngeal adenoid cystic carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "pharyngeal throat adenoid cystic cancer" EXACT [NCIT:C5818] synonym: "pharynx adenoid cystic carcinoma" EXACT [NCIT:C5818] xref: EFO:1000472 {source="MONDO:equivalentTo"} xref: MONDO:0006367 xref: NCIT:C5818 {source="EFO:1000472", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C5818 {source="EFO:1000472", source="MONDO:equivalentTo", source="exact-label-match"} xref: UMLS:C1335399 {source="NCIT:C5818", source="MONDO:equivalentTo"} is_a: EFO:0000231 {source="EFO:1000472", source="NCIT:C5818"} ! adenoid cystic carcinoma is_a: EFO:0005577 {source="MONDO:Redundant", source="NCIT:C5818/inferred"} ! pharynx cancer is_a: MONDO:0002038 ! head and neck carcinoma is_a: MONDO:0021345 {source="MONDO:Redundant", source="NCIT:C5818"} ! carcinoma of pharynx property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335399 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335399 property_value: exactMatch NCIT:C5818 property_value: exactMatch NCIT:C5818 [Term] id: EFO:1000473 name: Phosphaturic Mesenchymal Tumor def: "An extremely rare, benign or malignant mesenchymal tumor arising from the soft tissues or bones. It is a distinctive tumor, which usually displays the following morphologic characteristics: low cellularity, myxoid changes, presence of spindled cells and osteoclasts, hemangiopericytoma-like vessels, hemorrhage, and osteoid-like matrix. It is associated with the presence of a paraneoplastic syndrome called osteogenic osteomalacia. This syndrome usually precedes the appearance of the tumor, and it is characterized by phosphaturia, hypophosphatemia, normal serum calcium levels, and decreased levels of 1,25-dihydroxyvitamin D3. Patients present with bone and muscle pain, severe muscle weakness, fractures, gait disturbances, skeletal deformity, height loss, and slow growth. The metabolic disturbances improve or completely disappear after the complete resection of the tumor." [NCIT:C67237] synonym: "phosphaturic mesenchymal tumor" EXACT [NCIT:C67237] synonym: "phosphaturic mesenchymal tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "phosphaturic mesenchymal tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "phosphaturic mesenchymal tumor, mixed connective tissue type" EXACT [NCIT:C67237] synonym: "phosphaturic mesenchymal tumor, mixed connective tissue variant" RELATED [NCIT:C67237] xref: EFO:1000473 {source="MONDO:equivalentTo"} xref: MONDO:0006368 xref: NCIT:C67237 {source="EFO:1000473", source="MONDO:equivalentTo", source="NCIT:C67237"} xref: UMLS:C1831619 {source="MONDO:equivalentTo", source="NCIT:C67237"} is_a: EFO:0000616 {source="EFO:1000473", source="NCIT:C67237/inferred"} ! neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1831619 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1831619 property_value: exactMatch NCIT:C67237 property_value: exactMatch NCIT:C67237 [Term] id: EFO:1000474 name: Pineal Parenchymal Tumor of Intermediate Differentiation def: "A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)" [NCIT:C6967] synonym: "pineal parenchymal tumor of intermediate differentiation" EXACT [] {comment="preferred label from MONDO"} synonym: "pineal parenchymal tumor of intermediate differentiation" EXACT [DOID:5030, NCIT:C6967] synonym: "pineal parenchymal tumor of intermediate differentiation" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "pineal parenchymal tumor of intermediate differentiation (morphologic abnormality)" EXACT [DOID:5030] synonym: "pineal parenchymal tumors of intermediate differentiation" RELATED [GARD:0010644] synonym: "pineal parenchymal tumour of intermediate differentiation" EXACT [DOID:5030] synonym: "pineal parenchymal tumour of intermediate differentiation (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "pineal parenchymal tumours of intermediate differentiation" RELATED OMO:0003005 [] synonym: "PPTID" RELATED ABBREVIATION [GARD:0010644, ONCOTREE:PPTID] xref: DOID:5030 {source="MONDO:equivalentTo"} xref: EFO:1000474 {source="MONDO:equivalentTo"} xref: GARD:0010644 {source="shared-xref", source="MONDO:equivalentTo"} xref: MONDO:0006369 xref: NCIT:C6967 {source="EFO:1000474", source="MONDO:equivalentTo", source="DOID:5030", source="MONDO:exact-label-match"} xref: NCIT:C6967 {source="EFO:1000474", source="MONDO:equivalentTo", source="DOID:5030", source="exact-label-match"} xref: ONCOTREE:PPTID {source="MONDO:equivalentTo"} xref: SCTID:715904005 {source="MONDO:equivalentTo"} xref: UMLS:C1367859 {source="MONDO:equivalentTo", source="DOID:5030", source="NCIT:C6967"} is_a: MONDO:0024890 {source="NCIT:C6967"} ! pineal parenchymal cell neoplasm property_value: closeMatch http://identifiers.org/snomedct/31671006 property_value: closeMatch http://identifiers.org/snomedct/397379005 property_value: exactMatch DOID:5030 property_value: exactMatch DOID:5030 property_value: exactMatch http://identifiers.org/snomedct/715904005 property_value: exactMatch http://identifiers.org/snomedct/715904005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1367859 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1367859 property_value: exactMatch NCIT:C6967 property_value: exactMatch NCIT:C6967 property_value: excluded_subClassOf MONDO:0016722 {source="DOID:5030"} [Term] id: EFO:1000475 name: Pineoblastoma def: "Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis." [Orphanet:251909] subset: gard_rare {source="GARD:0009369"} subset: ordo_disease {source="Orphanet:251909"} synonym: "pineal gland PNET" EXACT [NCIT:C9344] synonym: "pineal gland primitive neuroectodermal neoplasm" EXACT [NCIT:C9344] synonym: "pineal gland primitive neuroectodermal tumor" EXACT [NCIT:C9344] synonym: "pineal gland primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "pineal PNET" EXACT [DOID:1664, NCIT:C9344] synonym: "pineal primitive neuroectodermal neoplasm" EXACT [NCIT:C9344] synonym: "pineal primitive neuroectodermal tumor" EXACT [NCIT:C9344] synonym: "pineal primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "pineoblastoma" EXACT [] {comment="preferred label from MONDO"} synonym: "pineoblastoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "pineoblastoma" EXACT [NCIT:C9344] synonym: "pineoblastoma (WHO grade IV)" EXACT [NCIT:C9344] synonym: "pineoblastoma, malignant" EXACT [NCIT:C9344] synonym: "PNET of pineal gland" EXACT [NCIT:C9344] synonym: "PNET of the pineal gland" EXACT [NCIT:C9344] synonym: "primitive neuroectodermal neoplasm of pineal gland" EXACT [NCIT:C9344] synonym: "primitive neuroectodermal neoplasm of the pineal gland" EXACT [NCIT:C9344] synonym: "primitive neuroectodermal tumor of pineal gland" EXACT [NCIT:C9344] synonym: "primitive neuroectodermal tumor of the pineal gland" EXACT [NCIT:C9344] synonym: "primitive neuroectodermal tumour of pineal gland" EXACT OMO:0003005 [] synonym: "primitive neuroectodermal tumour of the pineal gland" EXACT OMO:0003005 [] xref: DOID:1664 {source="MONDO:equivalentTo", source="EFO:1000475"} xref: EFO:1000475 {source="MONDO:equivalentTo"} xref: GARD:0009369 {source="MONDO:equivalentTo"} xref: ICD10:C75.3 {source="ORDO:251909/ntbt", source="Orphanet:251909"} xref: ICDO:9362/3 {source="NCIT:C9344"} xref: MedDRA:10050487 {source="ORDO:251909/e", source="Orphanet:251909"} xref: MedDRA:10050487 {source="Orphanet:251909", source="Orphanet:251909/e"} xref: MONDO:0016722 xref: NCIT:C9344 {source="MONDO:equivalentTo", source="DOID:1664", source="EFO:1000475"} xref: ONCOTREE:PBL {source="MONDO:equivalentTo"} xref: Orphanet:251909 {source="MONDO:equivalentTo"} xref: UMLS:C0205898 {source="NCIT:C9344", source="ORDO:251909/e", source="MONDO:equivalentTo", source="DOID:1664", source="Orphanet:251909"} xref: UMLS:C0205898 {source="NCIT:C9344", source="MONDO:equivalentTo", source="DOID:1664", source="Orphanet:251909", source="Orphanet:251909/e"} is_a: MONDO:0003249 {source="DOID:1664", source="NCIT:C9344"} ! pineal gland cancer is_a: MONDO:0016708 ! embryonal tumor of neuroepithelial tissue is_a: MONDO:0016721 {source="Orphanet:251909"} ! pineal tumor of neuroepithelial tissue property_value: closeMatch http://identifiers.org/meddra/10050487 property_value: closeMatch http://identifiers.org/mesh/D010871 property_value: closeMatch http://identifiers.org/snomedct/31671006 property_value: exactMatch DOID:1664 property_value: exactMatch DOID:1664 property_value: exactMatch http://identifiers.org/meddra/10050487 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205898 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205898 property_value: exactMatch NCIT:C9344 property_value: exactMatch NCIT:C9344 property_value: exactMatch Orphanet:251909 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9369/pineoblastoma xsd:anyURI {source="GARD:0009369"} [Term] id: EFO:1000476 name: Pineocytoma def: "Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis." [Orphanet:251912] subset: ordo_disease {source="Orphanet:251912"} synonym: "benign pinealoma" EXACT [NCIT:C6966] synonym: "pinealocytoma" EXACT [NCIT:C6966] synonym: "pineocytoma" EXACT [] {comment="preferred label from MONDO"} synonym: "pineocytoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "pineocytoma" EXACT [MONDO:ambiguous, NCIT:C6966] synonym: "pineocytoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Pineocytoma (WHO grade I)" EXACT [NCIT:C6966] synonym: "pineocytoma, benign" EXACT [NCIT:C6966] xref: DOID:0081248 {source="MONDO:equivalentTo"} xref: EFO:1000476 {source="MONDO:equivalentTo"} xref: GARD:0008207 {source="MONDO:equivalentTo"} xref: HP:0030407 {source="MONDO:otherHierarchy"} xref: ICD10:D44.5 {source="ORDO:251912/ntbt", source="Orphanet:251912"} xref: ICDO:9361/1 {source="NCIT:C6966"} xref: MedDRA:10035059 {source="Orphanet:251912/e", source="Orphanet:251912"} xref: MedDRA:10035059 {source="ORDO:251912/e", source="Orphanet:251912"} xref: MONDO:0016723 xref: NCIT:C6966 {source="EFO:1000476", source="MONDO:equivalentTo"} xref: ONCOTREE:PINC {source="MONDO:equivalentTo"} xref: Orphanet:251912 {source="MONDO:equivalentTo"} xref: SCTID:255045009 {source="MONDO:equivalentTo"} xref: UMLS:C0917890 {source="MONDO:equivalentTo", source="NCIT:C6966", source="ORDO:251912/e", source="Orphanet:251912"} xref: UMLS:C0917890 {source="Orphanet:251912/e", source="MONDO:equivalentTo", source="NCIT:C6966", source="Orphanet:251912"} is_a: EFO:1000107 {source="MONDO:Redundant", source="NCIT:C6966/inferred"} ! Benign Brain Neoplasm is_a: MONDO:0000627 {source="MONDO:Redundant"} ! benign endocrine neoplasm is_a: MONDO:0016721 {source="Orphanet:251912"} ! pineal tumor of neuroepithelial tissue is_a: MONDO:0024890 {source="NCIT:C6966"} ! pineal parenchymal cell neoplasm property_value: closeMatch http://identifiers.org/meddra/10035059 property_value: exactMatch DOID:0081248 property_value: exactMatch http://identifiers.org/meddra/10035059 property_value: exactMatch http://identifiers.org/snomedct/255045009 property_value: exactMatch http://identifiers.org/snomedct/255045009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0917890 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0917890 property_value: exactMatch NCIT:C6966 property_value: exactMatch NCIT:C6966 property_value: exactMatch Orphanet:251912 property_value: IAO:0000589 "pineocytoma (disease)" xsd:string [Term] id: EFO:1000477 name: Pituicytoma def: "An extremely rare, WHO grade I, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido." [NCIT:C94524] subset: ordo_disease {source="Orphanet:251623"} synonym: "pituicytoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "pituicytoma" EXACT [NCIT:C94524] synonym: "pituicytoma" EXACT [] {comment="preferred label from MONDO"} synonym: "pituicytoma (WHO grade I)" EXACT [NCIT:C94524] synonym: "posterior pituitary astrocytoma" EXACT [NCIT:C94524] synonym: "PTCY" RELATED ABBREVIATION [ONCOTREE:PTCY] xref: DOID:0081280 {source="MONDO:equivalentTo"} xref: EFO:1000477 {source="MONDO:equivalentTo"} xref: ICD10:C71.9 {source="ORDO:251623/ntbt", source="Orphanet:251623"} xref: ICD9:237.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:237.0 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9432/1 {source="NCIT:C94524"} xref: MONDO:0006372 xref: NCIT:C94524 {source="MONDO:equivalentTo", source="EFO:1000477"} xref: ONCOTREE:PTCY {source="MONDO:equivalentTo"} xref: Orphanet:251623 {source="MONDO:equivalentTo"} xref: SCTID:608817003 {source="MONDO:equivalentTo"} xref: UMLS:C2986550 {source="NCIT:C94524", source="MONDO:equivalentTo", source="Orphanet:251623", source="ORDO:251623/e"} xref: UMLS:C2986550 {source="Orphanet:251623/e", source="NCIT:C94524", source="MONDO:equivalentTo", source="Orphanet:251623"} is_a: EFO:0005578 ! pituitary cancer is_a: MONDO:0003169 ! diencephalic astrocytomas is_a: MONDO:0003257 {source="NCIT:C94524"} ! posterior pituitary gland neoplasm is_a: MONDO:0016685 {source="Orphanet:251623"} ! low-grade astrocytoma property_value: exactMatch DOID:0081280 property_value: exactMatch http://identifiers.org/snomedct/608817003 property_value: exactMatch http://identifiers.org/snomedct/608817003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2986550 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2986550 property_value: exactMatch NCIT:C94524 property_value: exactMatch NCIT:C94524 property_value: exactMatch Orphanet:251623 [Term] id: EFO:1000478 name: Pituitary Gland Adenoma def: "A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss." [NCIT:C3329] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:99408"} synonym: "adenoma of pituitary" EXACT [NCIT:C3329] synonym: "adenoma of pituitary gland" EXACT [NCIT:C3329] synonym: "adenoma of the pituitary" EXACT [NCIT:C3329] synonym: "adenoma of the pituitary gland" EXACT [DOID:3829, NCIT:C3329] synonym: "adenoma, anterior lobe pituitary gland, benign" EXACT [NCIT:C3329] synonym: "pituitary adenoma" EXACT [MONDO:0020471, NCIT:C3329] synonym: "pituitary gland adenoma" EXACT [] {comment="preferred label from MONDO"} synonym: "pituitary gland adenoma" EXACT [MONDO:patterns/location, NCIT:C3329] synonym: "pituitary gland adenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "PTAD" RELATED ABBREVIATION [ONCOTREE:PTAD] xref: DOID:3829 {source="MONDO:equivalentTo", source="EFO:1000478"} xref: EFO:1000478 {source="MONDO:equivalentTo"} xref: ICD10:D35.2 {source="ORDO:99408/ntbt", source="Orphanet:99408", source="MONDO:directSiblingOf"} xref: ICD10CM:D35.2 {source="Orphanet:99408", source="Orphanet:99408/ntbt", source="MONDO:directSiblingOf"} xref: ICDO:8272/0 {source="NCIT:C3329"} xref: MedDRA:10035079 {source="ORDO:99408/e", source="EFO:1000478", source="Orphanet:99408"} xref: MedDRA:10035079 {source="EFO:1000478", source="Orphanet:99408", source="Orphanet:99408/e"} xref: MONDO:0006373 xref: NCIT:C3329 {source="MONDO:equivalentTo", source="EFO:1000478", source="DOID:3829"} xref: OMIM:617540 xref: OMIM:617686 xref: ONCOTREE:PTAD {source="MONDO:equivalentTo"} xref: Orphanet:99408 {source="MONDO:equivalentTo", source="EFO:1000478"} xref: SCTID:254956000 {source="MONDO:equivalentTo", source="EFO:1000478", source="DOID:3829"} xref: UMLS:C0032000 {source="MONDO:equivalentTo", source="Orphanet:99408", source="DOID:3829", source="NCIT:C3329", source="Orphanet:99408/e"} xref: UMLS:C0032000 {source="ORDO:99408/e", source="MONDO:equivalentTo", source="Orphanet:99408", source="DOID:3829", source="NCIT:C3329"} is_a: EFO:0000232 {source="DOID:3829", source="EFO:1000478", source="MONDO:Redundant", source="NCIT:C3329"} ! adenoma is_a: MONDO:0017611 {source="MONDO:Redundant", source="NCIT:C3329/inferred", source="Orphanet:99408"} ! pituitary tumor property_value: closeMatch http://identifiers.org/meddra/10035079 property_value: closeMatch http://identifiers.org/mesh/D010911 property_value: closeMatch http://identifiers.org/snomedct/128664001 property_value: closeMatch http://identifiers.org/snomedct/154621002 property_value: closeMatch http://identifiers.org/snomedct/189178001 property_value: closeMatch http://identifiers.org/snomedct/269643009 property_value: closeMatch http://identifiers.org/snomedct/367095008 property_value: exactMatch DOID:3829 property_value: exactMatch DOID:3829 property_value: exactMatch http://identifiers.org/meddra/10035079 property_value: exactMatch http://identifiers.org/snomedct/254956000 property_value: exactMatch http://identifiers.org/snomedct/254956000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032000 property_value: exactMatch NCIT:C3329 property_value: exactMatch NCIT:C3329 property_value: exactMatch Orphanet:99408 property_value: excluded_subClassOf MONDO:0000627 {source="DOID:3829", source="MONDO:Redundant"} property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/adenoma.yaml [Term] id: EFO:1000479 name: Placental Choriocarcinoma def: "Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur." [NCIT:C8893] synonym: "choriocarcinoma of placenta" RELATED [NCIT:C8893] synonym: "choriocarcinoma of the placenta" EXACT [DOID:2024, NCIT:C8893] synonym: "placenta choriocarcinoma" RELATED [NCIT:C8893] synonym: "placenta choriocarcinoma (disease)" EXACT [MONDO:patterns/location] synonym: "placental choriocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "placental choriocarcinoma" EXACT [NCIT:C8893] synonym: "placental choriocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: DOID:2024 {source="MONDO:equivalentTo"} xref: EFO:1000479 {source="MONDO:equivalentTo"} xref: MONDO:0006374 xref: NCIT:C8893 {source="DOID:2024", source="MONDO:equivalentTo", source="EFO:1000479"} xref: SCTID:448401007 {source="DOID:2024", source="MONDO:equivalentTo"} xref: UMLS:C0855173 {source="DOID:2024", source="NCIT:C8893", source="MONDO:equivalentTo"} is_a: MONDO:0002178 {source="DOID:2024/inferred", source="MONDO:Redundant", source="NCIT:C8893"} ! placenta cancer is_a: MONDO:0020550 {source="DOID:2024", source="NCIT:C8893"} ! gestational choriocarcinoma property_value: exactMatch DOID:2024 property_value: exactMatch DOID:2024 property_value: exactMatch http://identifiers.org/snomedct/448401007 property_value: exactMatch http://identifiers.org/snomedct/448401007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0855173 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0855173 property_value: exactMatch NCIT:C8893 property_value: exactMatch NCIT:C8893 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql [Term] id: EFO:1000480 name: Placental Hemangioma def: "A hemangioma arising from the fetal blood vessels in the placental villi." [NCIT:C4868] synonym: "angioma of placenta" RELATED [NCIT:C4868] synonym: "angioma of the placenta" RELATED [NCIT:C4868] synonym: "Chorangioma" EXACT [NCIT:C4868] synonym: "Chorangioma of the placenta" RELATED [NCIT:C4868] synonym: "Chorangioma placentae" RELATED [NCIT:C4868] synonym: "chorioangioma" EXACT [MONDO:0002421] synonym: "hemangioma of placenta" EXACT [NCIT:C4868] synonym: "hemangioma of the placenta" RELATED [NCIT:C4868] synonym: "placenta hemangioma" EXACT [MONDO:patterns/location] synonym: "placental angioma" RELATED [NCIT:C4868] synonym: "placental hemangioma" EXACT [DOID:277, NCIT:C4868] synonym: "placental hemangioma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "placental hemangioma" EXACT [] {comment="preferred label from MONDO"} xref: DOID:277 {source="MONDO:equivalentTo"} xref: EFO:1000480 {source="MONDO:equivalentTo"} xref: ICD9:219.8 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:219.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MONDO:0006375 xref: NCIT:C4868 {source="EFO:1000480", source="MONDO:equivalentTo", source="DOID:277", source="NCIT:C4868"} xref: SCTID:237268002 {source="MONDO:equivalentTo", source="DOID:277"} xref: UMLS:C0677608 {source="MONDO:equivalentTo", source="DOID:277", source="NCIT:C4868"} is_a: EFO:1000635 ! hemangioma is_a: EFO:1001443 {source="MONDO:Redundant", source="NCIT:C4868"} ! Tuberculosis, Cutaneous property_value: closeMatch http://identifiers.org/snomedct/2099007 property_value: closeMatch http://identifiers.org/snomedct/699948001 property_value: exactMatch DOID:277 property_value: exactMatch DOID:277 property_value: exactMatch http://identifiers.org/snomedct/237268002 property_value: exactMatch http://identifiers.org/snomedct/237268002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0677608 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0677608 property_value: exactMatch NCIT:C4868 property_value: exactMatch NCIT:C4868 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: excluded_subClassOf MONDO:0002337 {source="DOID:277"} property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/hemangioma.yaml property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:1000481 name: Plantar Fibromatosis def: "A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern." [NCIT:C4680] subset: gard_rare {source="GARD:0006873"} subset: ordo_disease {source="Orphanet:199251"} synonym: "Dupuytren's contracture of foot" EXACT [DOID:8936] synonym: "Ledderhose's disease" EXACT [DOID:8936, NCIT:C4680] synonym: "Lederhose disease" EXACT [GARD:0006873] synonym: "plantar fascial fibromatosis" RELATED [DOID:8936] synonym: "plantar fibromatosis" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "plantar fibromatosis" EXACT [MONDO:0006376, NCIT:C4680] synonym: "plantar fibromatosis" EXACT [] {comment="preferred label from MONDO"} synonym: "plantar fibromatosis" EXACT [NCIT:C4680, Orphanet:199251] synonym: "plantar part of pes superficial Fibromatosis" EXACT [MONDO:patterns/location] synonym: "plantar part of pes superficial fibromatosis" EXACT [MONDO:patterns/location] synonym: "superficial Fibromatosis of plantar part of pes" EXACT [] synonym: "superficial fibromatosis of plantar part of pes" EXACT [MONDO:design_pattern] xref: DOID:8936 {source="MONDO:equivalentTo"} xref: EFO:1000481 {source="MONDO:equivalentTo"} xref: ICD10:M72.2 {source="DOID:8936"} xref: ICD9:728.71 {source="DOID:8936", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:728.71 {source="DOID:8936", source="MONDO:equivalentTo", source="i2s"} xref: MedDRA:10035154 {source="Orphanet:199251/e", source="Orphanet:199251"} xref: MESH:C537000 {source="Orphanet:199251/e", source="DOID:8936", source="MONDO:equivalentTo", source="Orphanet:199251"} xref: MONDO:0004684 xref: NCIT:C4680 {source="EFO:1000481", source="DOID:8936", source="MONDO:equivalentTo"} xref: Orphanet:199251 {source="MONDO:equivalentTo"} xref: SCTID:13370002 {source="DOID:8936", source="MONDO:equivalentTo"} xref: SCTID:202882003 {source="MONDO:relatedTo", source="DOID:8936"} is_a: EFO:1000556 {source="MONDO:Redundant", source="NCIT:C4680", source="Orphanet:199251"} ! Superficial Fibromatosis property_value: closeMatch http://identifiers.org/meddra/10035154 property_value: closeMatch http://identifiers.org/snomedct/240032001 property_value: exactMatch DOID:8936 property_value: exactMatch DOID:8936 property_value: exactMatch http://identifiers.org/mesh/C537000 property_value: exactMatch http://identifiers.org/snomedct/13370002 property_value: exactMatch http://identifiers.org/snomedct/13370002 property_value: exactMatch NCIT:C4680 property_value: exactMatch NCIT:C4680 property_value: exactMatch Orphanet:199251 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4451 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6873/ledderhose-disease xsd:anyURI {source="GARD:0006873"} [Term] id: EFO:1000482 name: obsolete_pleomorphic breast carcinoma property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.65" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use EFO_1000047 label : pleomorphic breast carcinoma" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_1000047 [Term] id: EFO:1000483 name: Pleural Biphasic Mesothelioma def: "Malignant mesothelioma that arises from the pleura. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor." [NCIT:C45665] synonym: "pleural biphasic mesothelioma" EXACT [NCIT:C45665] synonym: "pleural biphasic mesothelioma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "pleural biphasic mesothelioma" EXACT [] {comment="preferred label from MONDO"} xref: EFO:1000483 {source="MONDO:equivalentTo"} xref: MONDO:0006377 xref: NCIT:C45665 {source="EFO:1000483", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C45665 {source="EFO:1000483", source="MONDO:equivalentTo", source="exact-label-match"} xref: UMLS:C1709570 {source="MONDO:equivalentTo", source="NCIT:C45665"} is_a: EFO:1000124 {source="NCIT:C45665"} ! Biphasic Mesothelioma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709570 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709570 property_value: exactMatch NCIT:C45665 property_value: exactMatch NCIT:C45665 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql [Term] id: EFO:1000484 name: Pleural Epithelioid Mesothelioma def: "Malignant mesothelioma that arises from the pleura and is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns." [NCIT:C45662] synonym: "malignant epithelioid mesothelioma of pleura" EXACT [MONDO:design_pattern] synonym: "pleura malignant epithelioid mesothelioma" EXACT [MONDO:patterns/location] synonym: "pleural epithelioid mesothelioma" EXACT [] {comment="preferred label from MONDO"} synonym: "pleural epithelioid mesothelioma" EXACT [NCIT:C45662] synonym: "pleural epithelioid mesothelioma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:1000484 {source="MONDO:equivalentTo"} xref: MONDO:0006378 xref: NCIT:C45662 {source="EFO:1000484", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C45662 {source="EFO:1000484", source="MONDO:equivalentTo", source="exact-label-match"} xref: UMLS:C1709574 {source="MONDO:equivalentTo", source="NCIT:C45662"} is_a: EFO:0000770 {source="MONDO:Redundant", source="NCIT:C45662"} ! malignant pleural mesothelioma is_a: EFO:0006452 {source="MONDO:Redundant", source="NCIT:C45662"} ! malignant epithelioid mesothelioma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709574 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709574 property_value: exactMatch NCIT:C45662 property_value: exactMatch NCIT:C45662 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:1000485 name: Pleural Mesothelioma def: "A neoplasm that arises from the mesothelial cells of the pleura. The primary cause is exposure to asbestos. The major histologic variants are the epithelioid malignant mesothelioma, desmoplastic malignant mesothelioma, and sarcomatoid malignant mesothelioma. Patients present with persistent cough and shortness of breath." [NCIT:C9351] synonym: "benign pleural mesothelioma" NARROW [DOID:5157] synonym: "mesothelioma of pleura" EXACT [DOID:5157, NCIT:C9351] synonym: "mesothelioma of the pleura" EXACT [NCIT:C9351] synonym: "pleura mesothelioma" EXACT [MONDO:patterns/location] synonym: "pleural mesothelioma" EXACT [] {comment="preferred label from MONDO"} synonym: "pleural mesothelioma" EXACT [MONDO:ambiguous, NCIT:C9351] synonym: "pleural mesothelioma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "pleural mesothelioma (disease)" EXACT [MONDO:0006379] synonym: "pleural mesothelioma (disease), benign" NARROW [MONDO:patterns/benign] xref: DOID:5157 {source="MONDO:relatedTo", source="MONDO:equivalentTo"} xref: DOID:5157 {source="MONDO:equivalentTo"} xref: EFO:1000485 {source="MONDO:equivalentTo"} xref: HP:0100002 {source="MONDO:otherHierarchy"} xref: MONDO:0003308 xref: NCIT:C9351 {source="DOID:5157", source="EFO:1000485", source="MONDO:equivalentTo"} xref: NCIT:C9351 {source="DOID:5157", source="DesignPattern", source="EFO:1000485", source="MONDO:equivalentTo"} xref: ONCOTREE:PLMESO {source="MONDO:equivalentTo"} xref: SCTID:109372009 {source="MONDO:equivalentTo"} is_a: EFO:0000588 {source="EFO:1000485", source="MONDO:Redundant", source="NCIT:C9351"} ! mesothelioma is_a: MONDO:0021065 {source="MONDO:Redundant", source="NCIT:C9351"} ! pleural neoplasm property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1377913 property_value: exactMatch DOID:5157 property_value: exactMatch DOID:5157 property_value: exactMatch http://identifiers.org/snomedct/109372009 property_value: exactMatch http://identifiers.org/snomedct/109372009 property_value: exactMatch NCIT:C9351 property_value: exactMatch NCIT:C9351 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1000486 name: Pleural Sarcomatoid Mesothelioma def: "Malignant mesothelioma that arises from the pleura and is characterized by the presence of spindle-shaped cells forming fascicles, or that are distributed haphazardly resembling a sarcoma." [NCIT:C45663] synonym: "pleura sarcomatoid mesothelioma" EXACT [MONDO:patterns/location] synonym: "pleural sarcomatoid mesothelioma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "pleural sarcomatoid mesothelioma" EXACT [NCIT:C45663] synonym: "pleural sarcomatoid mesothelioma" EXACT [] {comment="preferred label from MONDO"} synonym: "sarcomatoid mesothelioma of pleura" EXACT [MONDO:design_pattern] xref: EFO:1000486 {source="MONDO:equivalentTo"} xref: MONDO:0006380 xref: NCIT:C45663 {source="MONDO:equivalentTo", source="EFO:1000486", source="MONDO:exact-label-match"} xref: NCIT:C45663 {source="MONDO:equivalentTo", source="EFO:1000486", source="exact-label-match"} xref: UMLS:C1709578 {source="MONDO:equivalentTo", source="NCIT:C45663"} is_a: EFO:0000770 {source="MONDO:Redundant", source="NCIT:C45663"} ! malignant pleural mesothelioma is_a: EFO:1000521 {source="MONDO:Redundant", source="NCIT:C45663"} ! Sarcomatoid Mesothelioma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709578 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709578 property_value: exactMatch NCIT:C45663 property_value: exactMatch NCIT:C45663 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:1000487 name: Plexiform Ameloblastoma def: "A histologic variant of solid/multicystic ameloblastoma characterized by the presence of basal cells forming anastomosing strands and cords in a delicate stroma." [NCIT:P378] synonym: "plexiform ameloblastoma" EXACT [] {comment="preferred label from MONDO"} synonym: "plexiform ameloblastoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:1000487 {source="MONDO:equivalentTo"} xref: MONDO:0006381 xref: NCIT:C39753 {source="EFO:1000487", source="MONDO:equivalentTo"} xref: UMLS:C0457529 {source="NCIT:C39753", source="MONDO:equivalentTo"} is_a: MONDO:0017795 {source="NCIT:C39753/inferred"} ! ameloblastoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0457529 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0457529 property_value: exactMatch NCIT:C39753 property_value: exactMatch NCIT:C39753 [Term] id: EFO:1000488 name: Polar Spongioblastoma def: "A lesion characterized by the presence of neoplastic neuroepithelial cells with palisading nuclei. This lesion implies a morphologic growth pattern and it is not considered a clinicopathological entity." [] xref: NCIt:C66801 is_a: EFO:0000519 ! glioblastoma multiforme [Term] id: EFO:1000489 name: Poorly Differentiated Thyroid Gland Carcinoma def: "An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004)" [NCIT:C6040] synonym: "insular carcinoma" EXACT [NCIT:C6040] synonym: "poorly differentiated carcinoma of the thyroid gland" EXACT [NCIT:C6040] synonym: "poorly differentiated carcinoma of thyroid gland" EXACT [NCIT:C6040] synonym: "poorly differentiated thyroid cancer" RELATED [ONCOTREE:THPD] synonym: "poorly differentiated thyroid carcinoma" EXACT [NCIT:C6040] synonym: "poorly differentiated thyroid gland cancer" EXACT [NCIT:C6040] synonym: "poorly differentiated thyroid gland carcinoma" EXACT [NCIT:C6040] synonym: "poorly differentiated thyroid gland carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "poorly differentiated thyroid gland carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "thyroid gland poorly differentiated carcinoma" EXACT [NCIT:C6040] xref: EFO:1000489 {source="MONDO:equivalentTo"} xref: ICDO:8337/3 {source="NCIT:C6040"} xref: MONDO:0006382 xref: NCIT:C6040 {source="MONDO:equivalentTo", source="EFO:1000489", source="exact-label-match"} xref: NCIT:C6040 {source="MONDO:equivalentTo", source="EFO:1000489", source="MONDO:exact-label-match"} xref: ONCOTREE:THPD {source="MONDO:equivalentTo"} xref: UMLS:C1266050 {source="MONDO:equivalentTo", source="NCIT:C6040"} is_a: EFO:0000228 {source="EFO:1000489", source="NCIT:C6040/inferred"} ! adenocarcinoma is_a: EFO:0001379 ! endocrine system disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266050 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266050 property_value: exactMatch NCIT:C6040 property_value: exactMatch NCIT:C6040 [Term] id: EFO:1000490 name: Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type def: "An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required." [NCIT:C45194] subset: ordo_disease {source="Orphanet:178544"} synonym: "PCDLBCL,LT" EXACT [Orphanet:178544] synonym: "primary cutaneous diffuse large B-cell lymphoma, Leg type" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "primary cutaneous diffuse large B-cell lymphoma, Leg type" EXACT [] {comment="preferred label from MONDO"} synonym: "primary cutaneous diffuse large B-cell lymphoma, Leg type" EXACT [MONDO:0015815] xref: EFO:1000490 {source="MONDO:equivalentTo"} xref: ICD10:C83.3 {source="Orphanet:178544", source="ORDO:178544/ntbt"} xref: ICDO:9680/3 {source="NCIT:C45194"} xref: MONDO:0006383 xref: NCIT:C45194 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000490"} xref: NCIT:C45194 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000490"} xref: Orphanet:178544 {source="MONDO:equivalentTo"} xref: UMLS:C1709656 {source="NCIT:C45194", source="MONDO:equivalentTo"} is_a: EFO:0000403 {source="EFO:1000490", source="NCIT:C45194/inferred"} ! diffuse large B-cell lymphoma is_a: MONDO:0015818 {source="Orphanet:178544"} ! aggressive primary cutaneous B-cell lymphoma relationship: EFO:0000784 CL:0000945 ! has_disease_location lymphocyte of B lineage property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709656 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709656 property_value: exactMatch NCIT:C45194 property_value: exactMatch NCIT:C45194 property_value: exactMatch Orphanet:178544 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql [Term] id: EFO:1000491 name: Primary Effusion Lymphoma def: "Primary effusion lymphoma (PEL) is a large B-cell lymphoma located in the body cavities, characterized by pleural, peritoneal, and pericardial fluid lymphomatous effusions and that is always associated with human herpes virus-8 (HHV-8)." [Orphanet:48686] subset: gard_rare {source="GARD:0009247"} subset: ordo_disease {source="Orphanet:48686"} synonym: "AIDS-related lymphoma" RELATED [GARD:0009247] synonym: "body cavity-based lymphoma" EXACT [NCIT:C6915, Orphanet:48686] synonym: "PEL" EXACT ABBREVIATION [NCIT:C6915, ONCOTREE:PEL, Orphanet:48686] synonym: "primary Effusion Lymphoma" EXACT [MONDO:0006384, NCIT:C6915] synonym: "primary effusion lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "primary effusion lymphoma" EXACT [] {comment="preferred label from MONDO"} xref: EFO:1000491 {source="MONDO:equivalentTo"} xref: GARD:0009247 {source="MONDO:equivalentTo"} xref: ICD10:C83.8 {source="ORDO:48686/ntbt", source="Orphanet:48686"} xref: ICD9:202.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:202.80 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9678/3 {source="NCIT:C6915"} xref: MedDRA:10065857 {source="Orphanet:48686/e", source="Orphanet:48686"} xref: MedDRA:10065857 {source="ORDO:48686/e", source="Orphanet:48686"} xref: MESH:D054685 {source="MONDO:equivalentTo", source="ORDO:48686/e", source="Orphanet:48686"} xref: MESH:D054685 {source="Orphanet:48686/e", source="MONDO:equivalentTo", source="Orphanet:48686"} xref: MONDO:0018842 xref: NCIT:C6915 {source="EFO:1000491", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C6915 {source="EFO:1000491", source="MONDO:equivalentTo", source="exact-label-match"} xref: ONCOTREE:PEL {source="MONDO:equivalentTo"} xref: Orphanet:48686 {source="MONDO:equivalentTo"} xref: SCTID:713516007 {source="MONDO:equivalentTo"} xref: UMLS:C1292753 {source="Orphanet:48686/e", source="MONDO:equivalentTo", source="Orphanet:48686", source="NCIT:C6915"} xref: UMLS:C1292753 {source="MONDO:equivalentTo", source="ORDO:48686/e", source="Orphanet:48686", source="NCIT:C6915"} is_a: EFO:0000403 {source="NCIT:C6915"} ! diffuse large B-cell lymphoma is_a: MONDO:0015157 {source="Orphanet:48686"} ! human herpesvirus 8-related tumor is_a: MONDO:0017343 {source="Orphanet:48686"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder property_value: closeMatch http://identifiers.org/meddra/10065857 property_value: exactMatch http://identifiers.org/meddra/10065857 property_value: exactMatch http://identifiers.org/mesh/D054685 property_value: exactMatch http://identifiers.org/mesh/D054685 property_value: exactMatch http://identifiers.org/snomedct/713516007 property_value: exactMatch http://identifiers.org/snomedct/713516007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1292753 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1292753 property_value: exactMatch NCIT:C6915 property_value: exactMatch NCIT:C6915 property_value: exactMatch Orphanet:48686 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9247/primary-effusion-lymphoma xsd:anyURI {source="GARD:0009247"} [Term] id: EFO:1000492 name: Primary Intraosseous Squamous Cell Carcinoma def: "A squamous cell carcinoma that arises centrally from the jaw. It derives from odontogenic epithelial remnants. It includes solid type squamous cell carcinoma, squamous cell carcinoma that arises from an odontogenic cyst, and squamous cell carcinoma that derives from a keratocystic odontogenic tumor." [NCIT:P378] synonym: "PIOSCC" EXACT ABBREVIATION [NCIT:C54295] synonym: "primary intraosseous squamous cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "primary intraosseous squamous cell carcinoma" EXACT [] {comment="preferred label from MONDO"} xref: EFO:1000492 {source="MONDO:equivalentTo"} xref: MONDO:0006385 xref: NCIT:C54295 {source="EFO:1000492", source="MONDO:equivalentTo"} xref: UMLS:C1709663 {source="NCIT:C54295", source="MONDO:equivalentTo"} is_a: EFO:0000181 {source="EFO:1000492", source="NCIT:C54295/inferred"} ! head and neck squamous cell carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709663 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709663 property_value: exactMatch NCIT:C54295 property_value: exactMatch NCIT:C54295 [Term] id: EFO:1000493 name: Primary Melanocytic Lesion of Meninges def: "A benign or malignant, circumscribed or diffuse neoplasm that arises from melanocytes in the leptomeninges. It includes diffuse melanocytosis, leptomeningeal melanoma, and melanocytoma." [] xref: NCIt:C4661 is_a: EFO:0003851 ! meningeal neoplasm relationship: EFO:0000784 UBERON:0002360 ! has_disease_location meninx [Term] id: EFO:1000494 name: Primary Peritoneal Serous Adenocarcinoma def: "A rare, serous adenocarcinoma that diffusely involves the pelvic peritoneum seen predominantly in elderly postmenopausal women. Exclusion of serous carcinoma arising from the ovary and fimbrial end of fallopian tube is required to diagnose the above entity." [doi:10.4103/2278-0513.157944] synonym: "primary peritoneal serous adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "primary peritoneal serous adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "primary peritoneal serous adenocarcinoma" EXACT [NCIT:C40023] xref: EFO:1000494 {source="MONDO:equivalentTo"} xref: MONDO:0006386 xref: NCIT:C40023 {source="EFO:1000494", source="MONDO:equivalentTo"} xref: UMLS:C1514429 {source="MONDO:equivalentTo", source="NCIT:C40023"} is_a: MONDO:0003195 ! peritoneal serous adenocarcinoma is_a: MONDO:0015686 {source="NCIT:C40023"} ! primary peritoneal carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1514429 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1514429 property_value: exactMatch NCIT:C40023 property_value: exactMatch NCIT:C40023 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql [Term] id: EFO:1000495 name: Primary Pulmonary Diffuse Large B-Cell Lymphoma def: "A diffuse large B-cell lymphoma that is localized to the lungs at the time of presentation. Signs and symptoms include cough, dyspnea, and hemoptysis." [NCIT:C45605] synonym: "diffuse large B-cell lymphoma of lung" EXACT [] synonym: "high grade MALT lymphoma of the lung" EXACT [NCIT:C45605] synonym: "lung diffuse large B-cell lymphoma" EXACT [MONDO:patterns/location] synonym: "primary pulmonary diffuse large B-cell lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "primary pulmonary diffuse large B-cell lymphoma" EXACT [NCIT:C45605] synonym: "primary pulmonary diffuse large B-cell lymphoma" EXACT [] {comment="preferred label from MONDO"} synonym: "pulmonary diffuse large B-cell lymphoma" EXACT [NCIT:C45605] xref: EFO:1000495 {source="MONDO:equivalentTo"} xref: MONDO:0006387 xref: NCIT:C45605 {source="EFO:1000495", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C45605 {source="EFO:1000495", source="MONDO:equivalentTo", source="exact-label-match"} xref: UMLS:C1709666 {source="NCIT:C45605", source="MONDO:equivalentTo"} is_a: EFO:0000403 {source="NCIT:C45605"} ! diffuse large B-cell lymphoma is_a: MONDO:0000621 ! immune system cancer is_a: MONDO:0020644 {source="NCIT:C45605"} ! lung non-Hodgkin lymphoma relationship: EFO:0000784 CL:0000945 ! has_disease_location lymphocyte of B lineage property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709666 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709666 property_value: exactMatch NCIT:C45605 property_value: exactMatch NCIT:C45605 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:1000496 name: Prolactin-Producing Pituitary Gland Adenoma def: "Prolactinoma is a usually benign neoplasm of the pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men." [Orphanet:2965] subset: ordo_disease {source="Orphanet:2965"} synonym: "familial prolactinoma" EXACT [DOID:5394] synonym: "Forbes-Albright syndrome (formerly)" RELATED [GARD:0004508] synonym: "lactotrope adenoma" EXACT [NCIT:C3342] synonym: "lactotroph adenoma" EXACT [NCIT:C3342, Orphanet:2965] synonym: "lactotroph cell adenoma" EXACT [NCIT:C3342] synonym: "pituitary adenoma, prolactin-secreting" EXACT [DOID:5394, OMIM:600634] synonym: "pituitary gland prolactinoma" EXACT [NCIT:C3342] synonym: "pituitary lactotrophic adenoma" EXACT [Orphanet:2965] synonym: "pituitary prolactinoma" EXACT [NCIT:C3342] synonym: "PRL producing pituitary gland adenoma" EXACT [NCIT:C3342] synonym: "PRL-secreting pituitary adenoma" EXACT [Orphanet:2965] synonym: "PRLoma" EXACT [Orphanet:2965] synonym: "prolactin producing adenoma of pituitary" EXACT [NCIT:C3342] synonym: "prolactin producing adenoma of pituitary gland" EXACT [NCIT:C3342] synonym: "prolactin producing adenoma of the pituitary" EXACT [NCIT:C3342] synonym: "prolactin producing adenoma of the pituitary gland" EXACT [NCIT:C3342] synonym: "prolactin producing pituitary adenoma" EXACT [NCIT:C3342] synonym: "prolactin producing pituitary gland adenoma" EXACT [NCIT:C3342] synonym: "prolactin secreting adenoma" EXACT [NCIT:C3342] synonym: "prolactin secreting adenoma of pituitary" EXACT [NCIT:C3342] synonym: "prolactin secreting adenoma of pituitary gland" EXACT [NCIT:C3342] synonym: "prolactin secreting adenoma of the pituitary" EXACT [NCIT:C3342] synonym: "prolactin secreting adenoma of the pituitary gland" EXACT [NCIT:C3342] synonym: "prolactin secreting pituitary adenoma" EXACT [NCIT:C3342] synonym: "prolactin secreting pituitary gland adenoma" EXACT [NCIT:C3342] synonym: "prolactin-producing pituitary gland adenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "prolactin-producing pituitary gland adenoma" EXACT [] {comment="preferred label from MONDO"} synonym: "prolactin-producing pituitary gland adenoma" EXACT [NCIT:C3342] synonym: "prolactin-secreting pituitary adenoma" EXACT [Orphanet:2965] synonym: "prolactinoma" EXACT [NCIT:C3342] synonym: "prolactinoma of pituitary" EXACT [NCIT:C3342] synonym: "prolactinoma of pituitary gland" EXACT [DOID:5394, NCIT:C3342] synonym: "prolactinoma of the pituitary" EXACT [NCIT:C3342] synonym: "prolactinoma of the pituitary gland" EXACT [NCIT:C3342] synonym: "prolactinoma, familial" RELATED [OMIM:600634] xref: DOID:5394 {source="MONDO:equivalentTo"} xref: EFO:1000496 {source="MONDO:equivalentTo"} xref: GARD:0004508 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: ICD10:D35.2 {source="MONDO:relatedTo", source="ORDO:2965/nd", source="Orphanet:2965"} xref: ICD10:E22.1 {source="MONDO:relatedTo", source="ORDO:2965/nd", source="Orphanet:2965"} xref: ICD10CM:D35.2 {source="MONDO:relatedTo", source="Orphanet:2965", source="Orphanet:2965/nd"} xref: ICD10CM:E22.1 {source="MONDO:relatedTo", source="Orphanet:2965", source="Orphanet:2965/nd"} xref: ICDO:8271/0 {source="NCIT:C3342"} xref: MedDRA:10036832 {source="Orphanet:2965", source="Orphanet:2965/e"} xref: MedDRA:10036832 {source="ORDO:2965/e", source="Orphanet:2965"} xref: MESH:D015175 {source="MONDO:equivalentTo", source="ORDO:2965/e", source="Orphanet:2965", source="DOID:5394"} xref: MESH:D015175 {source="MONDO:equivalentTo", source="Orphanet:2965", source="DOID:5394", source="Orphanet:2965/e"} xref: MONDO:0010911 xref: NCIT:C3342 {source="EFO:1000496", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5394"} xref: NCIT:C3342 {source="EFO:1000496", source="MONDO:equivalentTo", source="exact-label-match", source="DOID:5394"} xref: OMIM:600634 {source="EFO:1000496", source="MONDO:equivalentObsolete", source="DOID:5394"} xref: OMIM:600634 {source="EFO:1000496", source="MONDO:equivalentTo", source="DOID:5394"} xref: Orphanet:2965 {source="MONDO:equivalentTo"} xref: SCTID:134209002 {source="MONDO:equivalentTo", source="DOID:5394"} xref: UMLS:C0033375 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C3342", source="OMIM:600634", source="Orphanet:2965", source="DOID:5394", source="Orphanet:2965/e"} xref: UMLS:C0033375 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2965/e", source="NCIT:C3342", source="OMIM:600634", source="Orphanet:2965", source="DOID:5394"} is_a: EFO:1000051 ! reproductive system neoplasm is_a: MONDO:0003430 {source="NCIT:C3342"} ! prolactin producing pituitary tumor is_a: MONDO:0017824 {source="Orphanet:314777/btnt"} ! familial isolated pituitary adenoma property_value: closeMatch http://identifiers.org/meddra/10036832 property_value: closeMatch http://identifiers.org/snomedct/34337008 property_value: closeMatch http://identifiers.org/snomedct/367098005 property_value: exactMatch DOID:5394 property_value: exactMatch DOID:5394 property_value: exactMatch http://identifiers.org/meddra/10036832 property_value: exactMatch http://identifiers.org/mesh/D015175 property_value: exactMatch http://identifiers.org/mesh/D015175 property_value: exactMatch http://identifiers.org/omim/600634 property_value: exactMatch http://identifiers.org/snomedct/134209002 property_value: exactMatch http://identifiers.org/snomedct/134209002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033375 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033375 property_value: exactMatch NCIT:C3342 property_value: exactMatch NCIT:C3342 property_value: exactMatch Orphanet:2965 [Term] id: EFO:1000497 name: Prolactin-Producing Pituitary Gland Carcinoma def: "A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin." [NCIT:C5962] synonym: "malignant pituitary gland prolactinoma" EXACT [NCIT:C5962] synonym: "malignant pituitary prolactinoma" EXACT [NCIT:C5962] synonym: "malignant prolactin producing neoplasm of pituitary" EXACT [NCIT:C5962] synonym: "malignant prolactin producing neoplasm of pituitary gland" EXACT [NCIT:C5962] synonym: "malignant prolactin producing neoplasm of the pituitary" EXACT [NCIT:C5962] synonym: "malignant prolactin producing neoplasm of the pituitary gland" EXACT [NCIT:C5962] synonym: "malignant prolactin producing pituitary gland neoplasm" EXACT [NCIT:C5962] synonym: "malignant prolactin producing pituitary gland tumor" EXACT [NCIT:C5962] synonym: "malignant prolactin producing pituitary gland tumour" EXACT OMO:0003005 [] synonym: "malignant prolactin producing pituitary neoplasm" EXACT [NCIT:C5962] synonym: "malignant prolactin producing pituitary tumor" EXACT [NCIT:C5962] synonym: "malignant prolactin producing pituitary tumour" EXACT OMO:0003005 [] synonym: "malignant prolactin producing tumor" EXACT [NCIT:C5962] synonym: "malignant prolactin producing tumor of pituitary" EXACT [NCIT:C5962] synonym: "malignant prolactin producing tumor of pituitary gland" EXACT [NCIT:C5962] synonym: "malignant prolactin producing tumor of the pituitary" EXACT [NCIT:C5962] synonym: "malignant prolactin producing tumor of the pituitary gland" EXACT [NCIT:C5962] synonym: "malignant prolactin producing tumour" EXACT OMO:0003005 [] synonym: "malignant prolactin producing tumour of pituitary" EXACT OMO:0003005 [] synonym: "malignant prolactin producing tumour of pituitary gland" EXACT OMO:0003005 [] synonym: "malignant prolactin producing tumour of the pituitary" EXACT OMO:0003005 [] synonym: "malignant prolactin producing tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "malignant prolactin secreting neoplasm of pituitary" EXACT [NCIT:C5962] synonym: "malignant prolactin secreting neoplasm of pituitary gland" EXACT [NCIT:C5962] synonym: "malignant prolactin secreting neoplasm of the pituitary" EXACT [NCIT:C5962] synonym: "malignant prolactin secreting neoplasm of the pituitary gland" EXACT [NCIT:C5962] synonym: "malignant prolactin secreting pituitary gland neoplasm" EXACT [NCIT:C5962] synonym: "malignant prolactin secreting pituitary gland tumor" EXACT [NCIT:C5962] synonym: "malignant prolactin secreting pituitary gland tumour" EXACT OMO:0003005 [] synonym: "malignant prolactin secreting pituitary neoplasm" EXACT [NCIT:C5962] synonym: "malignant prolactin secreting pituitary tumor" EXACT [NCIT:C5962] synonym: "malignant prolactin secreting pituitary tumour" EXACT OMO:0003005 [] synonym: "malignant prolactin secreting tumor of pituitary" EXACT [NCIT:C5962] synonym: "malignant prolactin secreting tumor of pituitary gland" EXACT [NCIT:C5962] synonym: "malignant prolactin secreting tumor of the pituitary" EXACT [NCIT:C5962] synonym: "malignant prolactin secreting tumor of the pituitary gland" EXACT [NCIT:C5962] synonym: "malignant prolactin secreting tumour of pituitary" EXACT OMO:0003005 [] synonym: "malignant prolactin secreting tumour of pituitary gland" EXACT OMO:0003005 [] synonym: "malignant prolactin secreting tumour of the pituitary" EXACT OMO:0003005 [] synonym: "malignant prolactin secreting tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "malignant prolactinoma" EXACT [NCIT:C5962] synonym: "malignant prolactinoma of pituitary" EXACT [NCIT:C5962] synonym: "malignant prolactinoma of pituitary gland" EXACT [NCIT:C5962] synonym: "malignant prolactinoma of the pituitary" EXACT [NCIT:C5962] synonym: "malignant prolactinoma of the pituitary gland" EXACT [NCIT:C5962] synonym: "PRL producing pituitary gland carcinoma" EXACT [NCIT:C5962] synonym: "prolactin producing pituitary gland carcinoma" EXACT [NCIT:C5962] synonym: "prolactin-producing pituitary gland carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "prolactin-producing pituitary gland carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "prolactin-producing pituitary gland carcinoma" EXACT [NCIT:C5962] xref: EFO:1000497 {source="MONDO:equivalentTo"} xref: MONDO:0006388 xref: NCIT:C5962 {source="MONDO:equivalentTo", source="EFO:1000497"} xref: UMLS:C1334614 {source="MONDO:equivalentTo", source="NCIT:C5962"} is_a: MONDO:0003430 {source="NCIT:C5962"} ! prolactin producing pituitary tumor is_a: MONDO:0017582 {source="MONDO:Redundant", source="NCIT:C5962"} ! pituitary adenocarcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334614 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334614 property_value: exactMatch NCIT:C5962 property_value: exactMatch NCIT:C5962 [Term] id: EFO:1000498 name: Prostate Rhabdomyosarcoma def: "A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate." [NCIT:C5522] synonym: "prostate gland rhabdomyosarcoma" EXACT [] synonym: "prostate gland rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location] synonym: "prostate rhabdomyosarcoma" EXACT [NCIT:C5522] synonym: "prostate rhabdomyosarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "prostate rhabdomyosarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "rhabdomyosarcoma (disease) of prostate gland" EXACT [] synonym: "rhabdomyosarcoma of prostate" EXACT [NCIT:C5522] synonym: "rhabdomyosarcoma of the prostate" EXACT [DOID:3252, NCIT:C5522] xref: DOID:3252 {source="MONDO:equivalentTo"} xref: EFO:1000498 {source="MONDO:equivalentTo"} xref: MONDO:0006389 xref: NCIT:C5522 {source="EFO:1000498", source="MONDO:equivalentTo", source="exact-label-match", source="DOID:3252"} xref: NCIT:C5522 {source="EFO:1000498", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3252"} xref: UMLS:C1335518 {source="MONDO:equivalentTo", source="NCIT:C5522", source="DOID:3252"} is_a: EFO:0002918 {source="DOID:3252", source="EFO:1000498", source="MONDO:Redundant", source="NCIT:C5522"} ! rhabdomyosarcoma is_a: EFO:0002970 ! muscular disease is_a: MONDO:0002854 {source="DOID:3252", source="MONDO:Redundant", source="NCIT:C5522"} ! prostate sarcoma property_value: exactMatch DOID:3252 property_value: exactMatch DOID:3252 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335518 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335518 property_value: exactMatch NCIT:C5522 property_value: exactMatch NCIT:C5522 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/rhabdomyosarcoma.yaml [Term] id: EFO:1000499 name: Prostate Small Cell Carcinoma def: "A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells." [NCIT:C6766] comment: Editor note: DO classifies as lung oat cell carcinoma synonym: "Oat cell carcinoma of prostate" EXACT [NCIT:C6766] synonym: "Oat cell carcinoma of the prostate" EXACT [NCIT:C6766] synonym: "prostate gland small cell carcinoma" EXACT [MONDO:patterns/location] synonym: "prostate Oat cell carcinoma" EXACT [NCIT:C6766] synonym: "prostate oat cell carcinoma" EXACT [DOID:7141, NCIT:C6766] synonym: "prostate small cell carcinoma" EXACT [NCIT:C6766] synonym: "prostate small cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "prostate small cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "prostate small cell NEC" EXACT [NCIT:C6766] synonym: "prostate small cell neuroendocrine carcinoma" EXACT [NCIT:C6766] synonym: "PRSCC" RELATED ABBREVIATION [ONCOTREE:PRSCC] synonym: "small cell carcinoma of prostate" EXACT [NCIT:C6766] synonym: "small cell carcinoma of prostate gland" EXACT [MONDO:design_pattern] synonym: "small cell carcinoma of the prostate" EXACT [NCIT:C6766] xref: DOID:7141 {source="MONDO:equivalentTo"} xref: EFO:1000499 {source="MONDO:equivalentTo"} xref: MONDO:0006390 xref: NCIT:C6766 {source="DesignPattern", source="MONDO:equivalentTo", source="EFO:1000499", source="DOID:7141", source="exact-label-match"} xref: NCIT:C6766 {source="MONDO:equivalentTo", source="EFO:1000499", source="DOID:7141", source="MONDO:exact-label-match"} xref: ONCOTREE:PRSCC {source="MONDO:equivalentTo"} xref: SCTID:396198006 {source="MONDO:equivalentTo", source="DOID:7141"} xref: SCTID:396198006 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:7141"} xref: UMLS:C1300585 {source="MONDO:equivalentTo", source="NCIT:C6766", source="DOID:7141"} is_a: EFO:0001663 {source="DOID:7141", source="EFO:1000499", source="MONDO:Redundant", source="NCIT:C6766/inferred"} ! prostate carcinoma is_a: EFO:0008524 {source="DOID:7141/inferred", source="MONDO:Redundant", source="NCIT:C6766"} ! small cell carcinoma is_a: MONDO:0002477 {source="MONDO:Redundant", source="NCIT:C6766"} ! prostate neuroendocrine neoplasm property_value: exactMatch DOID:7141 property_value: exactMatch DOID:7141 property_value: exactMatch http://identifiers.org/snomedct/396198006 property_value: exactMatch http://identifiers.org/snomedct/396198006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1300585 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1300585 property_value: exactMatch NCIT:C6766 property_value: exactMatch NCIT:C6766 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/small_cell_carcinoma.yaml [Term] id: EFO:1000500 name: Psammomatous Meningioma def: "A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells." [] xref: NCIt:C4331 is_a: EFO:0003851 ! meningeal neoplasm relationship: EFO:0000784 UBERON:0002360 ! has_disease_location meninx [Term] id: EFO:1000501 name: Pyloric Gland Adenoma def: "A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation and pyloric gland-type tubular structures, which are closely packed." [NCIT:C43526] synonym: "pyloric gastric gland adenoma" EXACT [MONDO:patterns/location] synonym: "pyloric gland adenoma" EXACT [] {comment="preferred label from MONDO"} synonym: "pyloric gland adenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "pyloric gland adenoma" EXACT [NCIT:C43526] xref: EFO:1000501 {source="MONDO:equivalentTo"} xref: MONDO:0006391 xref: NCIT:C43526 {source="MONDO:equivalentTo", source="EFO:1000501"} xref: UMLS:C1709780 {source="NCIT:C43526", source="MONDO:equivalentTo"} is_a: EFO:1000268 {source="MONDO:Redundant", source="NCIT:C43526/inferred"} ! Gastric Adenoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709780 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709780 property_value: exactMatch NCIT:C43526 property_value: exactMatch NCIT:C43526 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/adenoma.yaml [Term] id: EFO:1000502 name: Rectal Hyperplastic Polyp def: "A serrated polypoid lesion that arises in the rectum. It rarely produces symptoms. This group includes goblet cell rich, mucin poor, and microvesicular hyperplastic polyps." [NCIT:P378] synonym: "hyperplastic polyp of rectum" EXACT [NCIT:C5619] synonym: "hyperplastic polyp of the rectum" EXACT [NCIT:C5619] synonym: "rectal Hp" EXACT [NCIT:C5619] synonym: "rectal hyperplastic polyp" EXACT [] {comment="preferred label from MONDO"} synonym: "rectal metaplastic polyp" EXACT [NCIT:C5619] synonym: "rectal MP" EXACT [NCIT:C5619] xref: MedDRA:10081790 xref: MONDO:0006392 xref: NCIT:C5619 {source="MONDO:equivalentTo", source="EFO:1000502"} xref: NCIt:C5619 xref: UMLS:C1335679 {source="NCIT:C5619", source="MONDO:equivalentTo"} is_a: MONDO:0021398 {source="MONDO:Redundant", source="NCIT:C5619"} ! polyp of rectum property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335679 property_value: exactMatch NCIT:C5619 [Term] id: EFO:1000503 name: Rectal Traditional Serrated Adenoma def: "An adenoma that arises from the rectum. It is characterized by prominent serration of the glands and the presence of generalized low-grade dysplasia." [NCIT:C96463] synonym: "rectal serrated adenoma" EXACT [NCIT:C96463] synonym: "rectal serrated adenoma type II" EXACT [NCIT:C96463] synonym: "rectal traditional serrated adenoma" EXACT [NCIT:C96463] synonym: "rectal traditional serrated adenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "rectal traditional serrated adenoma" EXACT [] {comment="preferred label from MONDO"} synonym: "rectal TSA" EXACT [NCIT:C96463] xref: EFO:1000503 {source="MONDO:equivalentTo"} xref: MONDO:0006393 xref: NCIT:C96463 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000503"} xref: NCIT:C96463 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000503"} xref: UMLS:C3272790 {source="MONDO:equivalentTo", source="NCIT:C96463"} is_a: MONDO:0000530 {source="NCIT:C96463"} ! rectum adenoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3272790 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3272790 property_value: exactMatch NCIT:C96463 property_value: exactMatch NCIT:C96463 [Term] id: EFO:1000504 name: Rectal Tubular Adenoma def: "A usually polypoid neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." [NCIT:C96477] synonym: "rectal tubular adenoma" EXACT [] {comment="preferred label from MONDO"} synonym: "rectal tubular adenoma" EXACT [NCIT:C96477] synonym: "rectal tubular adenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:1000504 {source="MONDO:equivalentTo"} xref: MONDO:0006394 xref: NCIT:C96477 {source="MONDO:equivalentTo", source="EFO:1000504", source="exact-label-match"} xref: NCIT:C96477 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000504"} xref: UMLS:C3272804 {source="MONDO:equivalentTo", source="NCIT:C96477"} is_a: MONDO:0000530 {source="MONDO:Redundant", source="NCIT:C96477"} ! rectum adenoma is_a: MONDO:0024660 ! tubular adenoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3272804 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3272804 property_value: exactMatch NCIT:C96477 property_value: exactMatch NCIT:C96477 [Term] id: EFO:1000505 name: Rectal Tubulovillous Adenoma def: "A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." [NCIT:C5620] synonym: "rectal tubulovillous adenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "rectal tubulovillous adenoma" EXACT [] {comment="preferred label from MONDO"} synonym: "rectal tubulovillous adenoma" EXACT [NCIT:C5620] synonym: "rectal Villotubular adenoma" EXACT [NCIT:C5620] synonym: "tubulovillous adenoma of rectum" EXACT [NCIT:C5620] synonym: "tubulovillous adenoma of the rectum" EXACT [NCIT:C5620] synonym: "Villotubular adenoma of rectum" EXACT [NCIT:C5620] synonym: "Villotubular adenoma of the rectum" EXACT [NCIT:C5620] xref: EFO:1000505 {source="MONDO:equivalentTo"} xref: MONDO:0006395 xref: NCIT:C5620 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000505"} xref: NCIT:C5620 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000505"} xref: SCTID:448428002 {source="MONDO:equivalentTo"} xref: UMLS:C1335691 {source="MONDO:equivalentTo", source="NCIT:C5620"} is_a: MONDO:0000530 {source="MONDO:Redundant", source="NCIT:C5620"} ! rectum adenoma is_a: MONDO:0024662 ! colorectal tubulovillous adenoma property_value: exactMatch http://identifiers.org/snomedct/448428002 property_value: exactMatch http://identifiers.org/snomedct/448428002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335691 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335691 property_value: exactMatch NCIT:C5620 property_value: exactMatch NCIT:C5620 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql [Term] id: EFO:1000506 name: Rectal Villous Adenoma def: "A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." [NCIT:C4919] synonym: "rectal villous adenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "rectal villous adenoma" EXACT [] {comment="preferred label from MONDO"} synonym: "rectal villous adenoma" EXACT [NCIT:C4919] synonym: "rectum villous adenoma" EXACT [MONDO:patterns/location] synonym: "villous adenoma of rectum" EXACT [NCIT:C4919] synonym: "villous adenoma of the rectum" EXACT [NCIT:C4919] xref: EFO:1000506 {source="MONDO:equivalentTo"} xref: MONDO:0006396 xref: NCIT:C4919 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000506"} xref: NCIT:C4919 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000506"} xref: SCTID:312823001 {source="MONDO:equivalentTo"} xref: UMLS:C0730199 {source="NCIT:C4919", source="MONDO:equivalentTo"} is_a: MONDO:0000502 {source="MONDO:Redundant", source="NCIT:C4919/inferred"} ! villous adenoma is_a: MONDO:0000530 {source="MONDO:Redundant", source="NCIT:C4919"} ! rectum adenoma property_value: exactMatch http://identifiers.org/snomedct/312823001 property_value: exactMatch http://identifiers.org/snomedct/312823001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0730199 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0730199 property_value: exactMatch NCIT:C4919 property_value: exactMatch NCIT:C4919 [Term] id: EFO:1000507 name: Renal Angiomyoadenomatous Tumor def: "A very rare, benign, encapsulated tumor that arises from the kidney. It is characterized by the presence of clear epithelial cells in a prominent smooth muscle stroma." [] xref: NCIt:C121955 is_a: EFO:0003865 ! kidney neoplasm [Term] id: EFO:1000508 name: Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions def: "A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns." [NCIT:C27891] synonym: "renal cell cancer associated with Xp11.2 translocations/TFE3 Gene fusions" EXACT [NCIT:C27891] synonym: "renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions" EXACT [NCIT:C27891] synonym: "renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions" EXACT [] {comment="preferred label from MONDO"} synonym: "TFE3-Rearranged renal cell carcinoma" EXACT [NCIT:C27891] synonym: "translocation-associated renal cell carcinoma" RELATED [ONCOTREE:TRCC] synonym: "tRCC" EXACT [NCIT:C27891] synonym: "Xp11.2 translocation-related renal cell carcinoma" EXACT [NCIT:C27891] xref: EFO:1000508 {source="MONDO:equivalentTo"} xref: ICDO:0000/0 {source="NCIT:C27891"} xref: MONDO:0006397 xref: NCIT:C27891 {source="EFO:1000508", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C27891 {source="EFO:1000508", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:TRCC {source="MONDO:equivalentTo"} xref: UMLS:C1337036 {source="NCIT:C27891", source="MONDO:equivalentTo"} is_a: EFO:0005708 {source="NCIT:C27891"} ! renal cell adenocarcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1337036 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1337036 property_value: exactMatch NCIT:C27891 property_value: exactMatch NCIT:C27891 [Term] id: EFO:1000509 name: Retinal Neoplasm def: "A benign or malignant neoplasm affecting the retina. Representative examples of benign neoplasms include retinocytoma and hemangioma. Representative examples of malignant neoplasms include retinoblastoma, lymphoma and melanoma." [] def: "A neoplasm (disease) that involves the retina." [MONDO:patterns/location] synonym: "neoplasm of retina" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the retina" EXACT [NCIT:C4800] synonym: "retina neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "retina neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "retina tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4800] synonym: "retina tumour" EXACT OMO:0003005 [] synonym: "retinal neoplasm" EXACT [NCIT:C4800] synonym: "retinal tumor" EXACT [NCIT:C4800] synonym: "retinal tumour" EXACT OMO:0003005 [] synonym: "tumor of retina" EXACT [MONDO:patterns/neoplasm, NCIT:C4800] synonym: "tumor of the retina" EXACT [NCIT:C4800] synonym: "tumour of retina" EXACT OMO:0003005 [] synonym: "tumour of the retina" EXACT OMO:0003005 [] xref: MedDRA:10057407 xref: MONDO:0021231 xref: NCIT:C4800 {source="MONDO:equivalentTo"} xref: NCIt:C4800 is_a: EFO:0003824 {source="MONDO:Redundant", source="NCIT:C4800"} ! eye neoplasm is_a: EFO:0003839 ! retinopathy is_a: MONDO:0021248 ! nervous system neoplasm property_value: exactMatch NCIT:C4800 [Term] id: EFO:1000510 name: Retroperitoneal Inflammatory Myofibroblastic Tumor def: "A multinodular intermediate fibroblastic neoplasm arising from the retroperitoneum. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." [NCIT:C39741] synonym: "retroperitoneal inflammatory myofibroblastic tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "retroperitoneal inflammatory myofibroblastic tumor" EXACT [NCIT:C39741] synonym: "retroperitoneal inflammatory myofibroblastic tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "retroperitoneal space inflammatory myofibroblastic tumor" EXACT [MONDO:patterns/location] synonym: "retroperitoneal space inflammatory myofibroblastic tumour" EXACT OMO:0003005 [] xref: EFO:1000510 {source="MONDO:equivalentTo"} xref: MONDO:0006398 xref: NCIT:C39741 {source="MONDO:equivalentTo", source="EFO:1000510", source="exact-label-match"} xref: NCIT:C39741 {source="MONDO:equivalentTo", source="EFO:1000510", source="MONDO:exact-label-match"} xref: UMLS:C1514921 {source="NCIT:C39741", source="MONDO:equivalentTo"} is_a: MONDO:0015798 {source="MONDO:Redundant", source="NCIT:C39741"} ! inflammatory myofibroblastic tumor is_a: MONDO:0024645 ! retroperitoneal neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1514921 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1514921 property_value: exactMatch NCIT:C39741 property_value: exactMatch NCIT:C39741 [Term] id: EFO:1000511 name: Rhabdoid Meningioma def: "A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets." [] xref: MedDRA:10069511 xref: NCIt:C6909 is_a: EFO:0003851 ! meningeal neoplasm relationship: EFO:0000784 UBERON:0002360 ! has_disease_location meninx [Term] id: EFO:1000512 name: Rhabdoid Tumor of the Kidney def: "A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor." [NCIT:C8715] synonym: "kidney rhabdoid cancer" RELATED [DOID:3674] synonym: "kidney rhabdoid tumor" EXACT [DOID:3674, MONDO:patterns/location, NCIT:C8715] synonym: "kidney rhabdoid tumour" EXACT OMO:0003005 [] synonym: "malignant rhabdoid tumor of kidney" EXACT [NCIT:C8715] synonym: "malignant rhabdoid tumor of the kidney" EXACT [NCIT:C8715] synonym: "malignant rhabdoid tumour of kidney" EXACT OMO:0003005 [] synonym: "malignant rhabdoid tumour of the kidney" EXACT OMO:0003005 [] synonym: "MRTK" EXACT ABBREVIATION [NCIT:C8715] synonym: "renal rhabdoid neoplasm" EXACT [NCIT:C8715] synonym: "renal rhabdoid tumor" EXACT [DOID:3674, NCIT:C8715] synonym: "renal rhabdoid tumour" EXACT OMO:0003005 [] synonym: "rhabdoid neoplasm of kidney" EXACT [NCIT:C8715] synonym: "rhabdoid neoplasm of the kidney" EXACT [NCIT:C8715] synonym: "rhabdoid tumor of kidney" EXACT [NCIT:C8715] synonym: "rhabdoid tumor of the kidney" EXACT [] {comment="preferred label from MONDO"} synonym: "rhabdoid tumor of the kidney" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "rhabdoid tumor of the kidney" EXACT [MONDO:0006399, NCIT:C8715] synonym: "rhabdoid tumor of the kidney (RTK)" EXACT [NCIT:C8715] synonym: "rhabdoid tumour of kidney" EXACT [NCIT:C8715] synonym: "rhabdoid tumour of kidney" EXACT OMO:0003005 [] synonym: "rhabdoid tumour of the kidney" EXACT [NCIT:C8715] synonym: "rhabdoid tumour of the kidney (RTK)" EXACT OMO:0003005 [] xref: DOID:3674 {source="MONDO:equivalentTo"} xref: EFO:1000512 {source="MONDO:equivalentTo"} xref: MONDO:0002729 xref: NCIT:C8715 {source="DOID:3674", source="MONDO:equivalentTo", source="EFO:1000512"} xref: UMLS:C0854917 {source="DOID:3674", source="MONDO:equivalentTo", source="NCIT:C8715"} is_a: EFO:0005701 {source="DOID:3674", source="MONDO:Redundant", source="NCIT:C8715"} ! malignant rhabdoid tumour is_a: MONDO:0002930 ! kidney sarcoma property_value: exactMatch DOID:3674 property_value: exactMatch DOID:3674 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0854917 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0854917 property_value: exactMatch NCIT:C8715 property_value: exactMatch NCIT:C8715 [Term] id: EFO:1000513 name: Salivary Gland Acinic Cell Carcinoma def: "A carcinoma of the salivary gland characterized by serous acinar cell differentiation. The vast majority of cases occur in the parotid gland. It usually presents as a slowly enlarging mass. A minority of patients experience pain. It may recur or metastasize. Multiple recurrences and metastasis to cervical lymph nodes are usually associated with a poor prognosis." [NCIT:P378] synonym: "acinic cell carcinoma of salivary gland" EXACT [NCIT:C8013] synonym: "acinic cell carcinoma of the salivary gland" EXACT [NCIT:C8013] synonym: "acinic cell neoplasm of salivary gland" EXACT [NCIT:C8013] synonym: "acinic cell neoplasm of the salivary gland" EXACT [NCIT:C8013] synonym: "acinic cell tumor of salivary gland" EXACT [NCIT:C8013] synonym: "acinic cell tumor of the salivary gland" EXACT [NCIT:C8013] synonym: "acinic cell tumour of salivary gland" EXACT OMO:0003005 [] synonym: "acinic cell tumour of the salivary gland" EXACT OMO:0003005 [] synonym: "salivary gland acinic cell cancer" EXACT [NCIT:C8013] synonym: "salivary gland acinic cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "salivary gland acinic cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "salivary gland acinic cell neoplasm" EXACT [NCIT:C8013] synonym: "salivary gland acinic cell tumor" EXACT [NCIT:C8013] synonym: "salivary gland acinic cell tumour" EXACT OMO:0003005 [] xref: EFO:1000513 {source="MONDO:equivalentTo"} xref: MONDO:0006400 xref: NCIT:C8013 {source="MONDO:equivalentTo", source="EFO:1000513"} xref: UMLS:C0279738 {source="NCIT:C8013", source="MONDO:equivalentTo"} is_a: EFO:0000216 {source="MONDO:Redundant", source="NCIT:C8013"} ! acinar cell carcinoma is_a: EFO:0000405 ! digestive system disease relationship: EFO:0000784 CL:0000622 ! has_disease_location acinar cell property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279738 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279738 property_value: exactMatch NCIT:C8013 property_value: exactMatch NCIT:C8013 [Term] id: EFO:1000514 name: Salivary Gland Adenosquamous Carcinoma def: "A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component." [NCIT:C35737] synonym: "saliva-secreting gland adenosquamous carcinoma" EXACT [MONDO:patterns/location] synonym: "salivary gland adenosquamous carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "salivary gland adenosquamous carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "salivary gland adenosquamous carcinoma" EXACT [NCIT:C35737] xref: EFO:1000514 {source="MONDO:equivalentTo"} xref: MONDO:0006401 xref: NCIT:C35737 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000514"} xref: NCIT:C35737 {source="DesignPattern", source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000514"} xref: UMLS:C1335894 {source="MONDO:equivalentTo", source="NCIT:C35737"} is_a: EFO:1000073 {source="MONDO:Redundant", source="NCIT:C35737"} ! Adenosquamous Carcinoma is_a: EFO:1001967 ! salivary gland squamous cell carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335894 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335894 property_value: exactMatch NCIT:C35737 property_value: exactMatch NCIT:C35737 property_value: http://purl.org/dc/terms/conformsTo adenosquamous:carcinoma.yaml [Term] id: EFO:1000515 name: Salivary Gland Basal Cell Adenocarcinoma def: "A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients." [NCIT:C3678] synonym: "basal cell adenocarcinoma" EXACT [NCIT:C3678] synonym: "basal cell adenocarcinoma of salivary gland" EXACT [NCIT:C3678] synonym: "basal cell adenocarcinoma of the salivary gland" EXACT [NCIT:C3678] synonym: "saliva-secreting gland skin basal cell carcinoma" EXACT [MONDO:patterns/location] synonym: "salivary gland basal cell adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "salivary gland basal cell adenocarcinoma" EXACT [NCIT:C3678] synonym: "salivary gland basal cell adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "skin basal cell carcinoma of saliva-secreting gland" EXACT [MONDO:design_pattern] xref: EFO:1000515 {source="MONDO:equivalentTo"} xref: ICDO:8147/3 {source="NCIT:C3678"} xref: MONDO:0006402 xref: NCIT:C3678 {source="MONDO:equivalentTo", source="EFO:1000515"} is_a: EFO:0000228 {source="EFO:1000515", source="NCIT:C3678/inferred"} ! adenocarcinoma is_a: EFO:1001967 ! salivary gland squamous cell carcinoma is_a: MONDO:0005341 {source="EFO:1000515", source="MONDO:Redundant"} ! skin basal cell carcinoma relationship: EFO:0000784 CL:0000646 ! has_disease_location basal cell property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0205641 property_value: exactMatch NCIT:C3678 property_value: exactMatch NCIT:C3678 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:1000516 name: Salivary Gland Carcinoma ex Pleomorphic Adenoma def: "A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." [NCIT:C40410] comment: Editor note: DO class placed here as it denotes a salivary gland specific form synonym: "pleomorphic adenoma carcinoma" RELATED [DOID:297] synonym: "saliva-secreting gland carcinoma ex pleomorphic adenoma" EXACT [MONDO:patterns/location] synonym: "salivary gland carcinoma ex pleomorphic adenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "salivary gland carcinoma ex pleomorphic adenoma" EXACT [] {comment="preferred label from MONDO"} synonym: "salivary gland carcinoma ex pleomorphic adenoma" EXACT [NCIT:C40410] xref: DOID:297 {source="MONDO:equivalentTo"} xref: EFO:1000516 {source="MONDO:equivalentTo"} xref: MONDO:0006403 xref: NCIT:C40410 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000516"} xref: NCIT:C40410 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000516"} xref: UMLS:C1519172 {source="MONDO:equivalentTo", source="NCIT:C40410"} is_a: MONDO:0000521 {source="MONDO:Redundant", source="NCIT:C40410"} ! salivary gland carcinoma is_a: MONDO:0002472 {source="MONDO:Redundant", source="NCIT:C40410"} ! carcinoma ex pleomorphic adenoma property_value: exactMatch DOID:297 property_value: exactMatch DOID:297 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519172 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519172 property_value: exactMatch NCIT:C40410 property_value: exactMatch NCIT:C40410 [Term] id: EFO:1000517 name: Salivary Gland Large Cell Carcinoma def: "A rare, highly aggressive carcinoma that arises from the salivary gland, predominantly the parotid gland. It is characterized by the presence of large pleomorphic malignant cells with abundant cytoplasm. Patients usually present with a rapidly growing mass." [NCIT:C35735] synonym: "large cell salivary gland carcinoma" EXACT [NCIT:C35735] synonym: "large cell undifferentiated salivary gland carcinoma" EXACT [NCIT:C35735] synonym: "saliva-secreting gland large cell carcinoma" EXACT [MONDO:patterns/location] synonym: "salivary gland large cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "salivary gland large cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "salivary gland large cell carcinoma" EXACT [NCIT:C35735] xref: EFO:1000517 {source="MONDO:equivalentTo"} xref: MONDO:0006404 xref: NCIT:C35735 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000517"} xref: NCIT:C35735 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000517"} xref: UMLS:C2111671 {source="MONDO:equivalentTo", source="NCIT:C35735"} is_a: EFO:0006772 {source="EFO:1000517", source="NCIT:C35735/inferred"} ! undifferentiated carcinoma is_a: MONDO:0000521 {source="MONDO:Redundant", source="NCIT:C35735/inferred"} ! salivary gland carcinoma is_a: MONDO:0005232 {source="MONDO:Redundant", source="NCIT:C35735"} ! large cell carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2111671 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2111671 property_value: exactMatch NCIT:C35735 property_value: exactMatch NCIT:C35735 [Term] id: EFO:1000518 name: Salivary Gland Pleomorphic Adenoma def: "A benign, slow-growing tumor composed of cells that demonstrate both epithelial and mesenchymal differentiation. It is the most common neoplasm of salivary gland origin, and mostly occurs in the parotid gland. The average age of patients has been reported to be 43 years; women are more often affected than men. The malignant change rate has been estimated to be 6%. The malignant counterpart is carcinoma ex pleomorphic adenoma." [] xref: NCIt:C40409 is_a: EFO:0003826 ! salivary gland neoplasm [Term] id: EFO:1000519 name: Salivary Gland Small Cell Carcinoma def: "An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures." [NCIT:C35703] synonym: "anaplastic small cell carcinoma of salivary gland" EXACT [NCIT:C35703] synonym: "anaplastic small cell carcinoma of the salivary gland" EXACT [NCIT:C35703] synonym: "neuroendocrine carcinoma of salivary gland" EXACT [NCIT:C35703] synonym: "neuroendocrine carcinoma of the salivary gland" EXACT [NCIT:C35703] synonym: "saliva-secreting gland small cell carcinoma" EXACT [MONDO:patterns/location] synonym: "salivary gland anaplastic small cell carcinoma" EXACT [NCIT:C35703] synonym: "salivary gland neuroendocrine carcinoma" EXACT [NCIT:C35703] synonym: "salivary gland neuroendocrine carcinoma" RELATED [NCIT:C35703] synonym: "salivary gland small cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "salivary gland small cell carcinoma" EXACT [NCIT:C35703] synonym: "salivary gland small cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "small cell carcinoma of saliva-secreting gland" EXACT [MONDO:design_pattern] synonym: "small cell salivary gland carcinoma" EXACT [NCIT:C35703] xref: EFO:1000519 {source="MONDO:equivalentTo"} xref: MONDO:0006405 xref: NCIT:C35703 {source="EFO:1000519", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C35703 {source="EFO:1000519", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1335982 {source="MONDO:equivalentTo", source="NCIT:C35703"} is_a: EFO:0008524 {source="MONDO:Redundant", source="NCIT:C35703"} ! small cell carcinoma is_a: MONDO:0000521 {source="MONDO:Redundant", source="NCIT:C35703"} ! salivary gland carcinoma is_a: MONDO:0024503 ! digestive system neuroendocrine neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335982 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335982 property_value: exactMatch NCIT:C35703 property_value: exactMatch NCIT:C35703 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/small_cell_carcinoma.yaml [Term] id: EFO:1000520 name: Sarcomatoid Carcinoma def: "A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present." [NCIT:C27004] synonym: "carcinoma, spindle cell, malignant" EXACT [NCIT:C27004] synonym: "pseudosarcomatous carcinoma" EXACT [NCIT:C27004] synonym: "sarcomatoid carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "sarcomatoid carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "sarcomatoid carcinoma" EXACT [DOID:4015, NCIT:C27004] synonym: "spindle cell carcinoma" EXACT [MONDO:0002838, NCIT:C27004] synonym: "spindle cell carcinoma (morphologic abnormality)" EXACT [DOID:4015] xref: DOID:4015 {source="MONDO:equivalentTo"} xref: EFO:1000520 {source="MONDO:equivalentTo"} xref: ICDO:8032/3 {source="NCIT:C27004"} xref: ICDO:8033/3 {source="NCIT:C27004"} xref: MONDO:0006406 xref: NCIT:C27004 {source="DOID:4015", source="EFO:1000520", source="MONDO:equivalentTo"} xref: UMLS:C0205697 {source="DOID:4015", source="NCIT:C27004", source="MONDO:equivalentTo"} is_a: EFO:0000313 {source="DOID:4015/inferred", source="EFO:1000520", source="NCIT:C27004"} ! carcinoma is_a: MONDO:0020633 {source="NCIT:C27004"} ! anaplastic cancer is_a: MONDO:0020663 ! malignant spindle cell neoplasm property_value: closeMatch http://identifiers.org/snomedct/23109009 property_value: closeMatch http://identifiers.org/snomedct/65692009 property_value: exactMatch DOID:4015 property_value: exactMatch DOID:4015 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205697 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205697 property_value: exactMatch NCIT:C27004 property_value: exactMatch NCIT:C27004 property_value: excluded_subClassOf MONDO:0005096 {source="DOID:4015"} [Term] id: EFO:1000521 name: Sarcomatoid Mesothelioma def: "A diffuse malignant mesothelioma arising from the pleura and less often the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen." [NCIT:C45655] synonym: "malignant fibrous mesothelioma" EXACT [DOID:4488, NCIT:C6747] synonym: "malignant fibrous mesothelioma (morphologic abnormality)" EXACT [DOID:4488] synonym: "sarcomatoid mesothelioma" EXACT [NCIT:C45655] synonym: "sarcomatoid mesothelioma" EXACT [] {comment="preferred label from MONDO"} synonym: "sarcomatoid mesothelioma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "sarcomatoid mesothelioma (morphologic abnormality)" EXACT [DOID:4488] synonym: "spindled mesothelioma" EXACT [DOID:4488] xref: DOID:4488 {source="MONDO:equivalentTo"} xref: EFO:1000521 {source="MONDO:equivalentTo"} xref: MONDO:0006407 xref: NCIT:C45655 {source="DOID:4488", source="MONDO:equivalentTo", source="EFO:1000521", source="exact-label-match"} xref: NCIT:C45655 {source="DOID:4488", source="MONDO:equivalentTo", source="EFO:1000521", source="MONDO:exact-label-match"} xref: UMLS:C0334513 {source="DOID:4488", source="MONDO:equivalentTo", source="NCIT:C45655"} is_a: EFO:1000355 {source="DOID:4488", source="NCIT:C45655/inferred"} ! Malignant Mesothelioma property_value: closeMatch http://identifiers.org/snomedct/209241006 property_value: closeMatch http://identifiers.org/snomedct/399477001 property_value: closeMatch http://identifiers.org/snomedct/54443001 property_value: exactMatch DOID:4488 property_value: exactMatch DOID:4488 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334513 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334513 property_value: exactMatch NCIT:C45655 property_value: exactMatch NCIT:C45655 [Term] id: EFO:1000522 name: Secretory Meningioma def: "A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen." [] xref: NCIt:C4718 is_a: EFO:0003851 ! meningeal neoplasm relationship: EFO:0000784 UBERON:0002360 ! has_disease_location meninx [Term] id: EFO:1000523 name: Sex Hormone-Producing Adrenal Cortex Adenoma def: "A rare adenoma of the adrenal cortex that produces androgens or estrogens." [NCIT:P378] synonym: "Sex hormone producing adrenal cortex adenoma" EXACT [NCIT:C48452] synonym: "Sex hormone producing adrenal cortical adenoma" EXACT [NCIT:C48452] synonym: "sex hormone-producing adrenal cortex adenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "sex hormone-producing adrenal cortex adenoma" EXACT [] {comment="preferred label from MONDO"} xref: EFO:1000523 {source="MONDO:equivalentTo"} xref: MONDO:0006408 xref: NCIT:C48452 {source="MONDO:equivalentTo", source="EFO:1000523"} xref: UMLS:C1710067 {source="NCIT:C48452", source="MONDO:equivalentTo"} is_a: EFO:0003104 {source="NCIT:C48452"} ! adrenocortical adenoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1710067 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1710067 property_value: exactMatch NCIT:C48452 property_value: exactMatch NCIT:C48452 [Term] id: EFO:1000524 name: Signet Ring Cell Gastric Adenocarcinoma def: "A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin." [NCIT:C5250] synonym: "gastric signet Ring cell adenocarcinoma" EXACT [NCIT:C5250] synonym: "gastric signet ring cell adenocarcinoma" EXACT [MONDO:0004437] synonym: "signet Ring cell adenocarcinoma of stomach" EXACT [NCIT:C5250] synonym: "signet Ring cell adenocarcinoma of the stomach" EXACT [DOID:8025, NCIT:C5250] synonym: "signet ring cell carcinoma of the stomach" RELATED [ONCOTREE:SSRCC] synonym: "signet ring cell gastric adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "signet ring cell gastric adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "signet ring cell gastric adenocarcinoma" EXACT [NCIT:C5250] synonym: "signet Ring cell stomach adenocarcinoma" EXACT [NCIT:C5250] xref: DOID:8025 {source="MONDO:equivalentTo"} xref: EFO:1000524 {source="MONDO:equivalentTo"} xref: MONDO:0006409 xref: NCIT:C5250 {source="MONDO:equivalentTo", source="EFO:1000524", source="DOID:8025"} xref: ONCOTREE:SSRCC {source="MONDO:equivalentTo"} xref: UMLS:C1335965 {source="NCIT:C5250", source="MONDO:equivalentTo", source="DOID:8025"} is_a: EFO:0000503 {source="DOID:8025/inferred", source="EFO:1000524", source="MONDO:Redundant", source="NCIT:C5250/inferred"} ! gastric adenocarcinoma is_a: EFO:0000698 {source="EFO:1000524", source="NCIT:C5250"} ! signet ring cell carcinoma property_value: exactMatch DOID:8025 property_value: exactMatch DOID:8025 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335965 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335965 property_value: exactMatch NCIT:C5250 property_value: exactMatch NCIT:C5250 property_value: excluded_subClassOf MONDO:0005017 {source="DOID:8025"} [Term] id: EFO:1000525 name: Simple Endometrial Hyperplasia def: "A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia may be present or absent." [NCIT:P378] synonym: "simple endometrial hyperplasia" EXACT [] {comment="preferred label from MONDO"} xref: ICD9:621.31 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MONDO:0006410 xref: NCIT:C35463 {source="MONDO:equivalentTo", source="EFO:1000525"} xref: NCIt:C35463 xref: SCTID:198324001 {source="MONDO:equivalentTo"} xref: UMLS:C0456483 {source="NCIT:C35463", source="MONDO:equivalentTo"} is_a: EFO:0000536 {source="EFO:1000525", source="NCIT:C35463/inferred"} ! hyperplasia is_a: EFO:0009549 ! female reproductive system disease property_value: exactMatch http://identifiers.org/snomedct/198324001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0456483 property_value: exactMatch NCIT:C35463 [Term] id: EFO:1000526 name: Simple Endometrial Hyperplasia with Atypia def: "A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia is present." [] xref: NCIt:C6991 is_a: EFO:0004230 ! endometrial neoplasm [Term] id: EFO:1000527 name: Sinonasal Undifferentiated Carcinoma def: "A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor." [NCIT:C54294] subset: gard_rare {source="GARD:0009249"} synonym: "highly aggressive undifferentiated carcinoma of the nasal cavity and paranasal sinuses" RELATED [GARD:0009249] synonym: "Sinonasal anaplastic carcinoma" EXACT [NCIT:C54294] synonym: "sinonasal undifferentiated carcinoma" EXACT [NCIT:C54294] synonym: "sinonasal undifferentiated carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "sinonasal undifferentiated carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "SNUC" RELATED ABBREVIATION [GARD:0009249, ONCOTREE:SNUC] synonym: "undifferentiated Sinonasal cancer" EXACT [NCIT:C54294] xref: DOID:0080799 {source="MONDO:equivalentTo"} xref: EFO:1000527 {source="MONDO:equivalentTo"} xref: GARD:0009249 {source="MONDO:equivalentTo"} xref: MESH:C537344 {source="MONDO:equivalentTo"} xref: MONDO:0006411 xref: NCIT:C54294 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000527"} xref: NCIT:C54294 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000527"} xref: ONCOTREE:SNUC {source="MONDO:equivalentTo"} xref: SCTID:697993003 {source="MONDO:equivalentTo"} xref: UMLS:C1710096 {source="NCIT:C54294", source="MONDO:equivalentTo", source="GARD:0009249"} is_a: EFO:0006772 {source="EFO:1000527", source="NCIT:C54294"} ! undifferentiated carcinoma property_value: exactMatch DOID:0080799 property_value: exactMatch http://identifiers.org/mesh/C537344 property_value: exactMatch http://identifiers.org/mesh/C537344 property_value: exactMatch http://identifiers.org/snomedct/697993003 property_value: exactMatch http://identifiers.org/snomedct/697993003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1710096 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1710096 property_value: exactMatch NCIT:C54294 property_value: exactMatch NCIT:C54294 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9249/sinonasal-undifferentiated-carcinoma xsd:anyURI {source="GARD:0009249"} [Term] id: EFO:1000528 name: obsolete_Sinus Histiocytosis with Massive Lymphadenopathy def: "A rare disorder of unknown etiology characterized by distention of the lymph node sinuses and sinusoidal histiocytic infiltration. The histiocytes characteristically contain ingested lymphocytes. Patients present with cervical lymphadenopathy, fever, leukocytosis, and hypergammaglobulinemia. It can affect extranodal sites, including skin, bones, and the respiratory tract. It usually regresses spontaneously." [] xref: NCIt:C36075 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.77" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use orphanet_168569" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_168569 [Term] id: EFO:1000529 name: Skin Basosquamous Cell Carcinoma alt_id: MONDO:0006413 def: "A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases." [NCIT:C2922] synonym: "Basisquamous cell carcinoma" EXACT [DOID:5063] synonym: "basosquamous carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "basosquamous carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "basosquamous carcinoma" EXACT [NCIT:C2922] synonym: "basosquamous cell carcinoma" EXACT [DOID:5063, NCIT:C2922] synonym: "basosquamous cell carcinoma" EXACT [CSP2005:2000-2932, DOID:5063, NCIT:C2922] synonym: "basosquamous tumor, malignant" EXACT [NCIT:C2922] synonym: "metatypical carcinoma" EXACT [DOID:5063] synonym: "metatypical carcinoma (morphologic abnormality)" EXACT [DOID:5063] synonym: "skin basosquamous cell carcinoma" EXACT [NCIT:C2922] synonym: "skin mixed basal and squamous cell carcinoma" EXACT [NCIT:C2922] xref: DOID:5063 {source="MONDO:equivalentTo"} xref: EFO:1000529 {source="MONDO:equivalentTo"} xref: ICDO:8094/3 {source="NCIT:C2922"} xref: MESH:D002281 {source="MONDO:equivalentTo", source="DOID:5063"} xref: MONDO:0003264 xref: NCIT:C2922 {source="EFO:1000529", source="MONDO:equivalentTo", source="DOID:5063"} xref: SCTID:254702000 {source="DOID:5063", source="MONDO:directSiblingOf"} xref: UMLS:C0007118 {source="MONDO:equivalentTo", source="DOID:5063", source="NCIT:C2922"} is_a: MONDO:0005341 {source="DOID:5063", source="NCIT:C2922"} ! skin basal cell carcinoma relationship: EFO:0000784 CL:0000646 ! has_disease_location basal cell property_value: closeMatch http://identifiers.org/snomedct/37304002 property_value: closeMatch http://identifiers.org/snomedct/6641007 property_value: exactMatch DOID:5063 property_value: exactMatch DOID:5063 property_value: exactMatch http://identifiers.org/mesh/D002281 property_value: exactMatch http://identifiers.org/mesh/D002281 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007118 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007118 property_value: exactMatch NCIT:C2922 property_value: exactMatch NCIT:C2922 [Term] id: EFO:1000530 name: Skin Cavernous Hemangioma def: "A cavernous hemangioma arising from the skin." [] xref: NCIt:C4750 is_a: EFO:0004198 ! skin neoplasm [Term] id: EFO:1000531 name: Skin Sarcoma def: "A sarcoma that arises from the skin. Representative examples include Kaposi sarcoma, angiosarcoma, lymphangiosarcoma, liposarcoma, and leiomyosarcoma." [NCIT:C5585] synonym: "cutaneous sarcoma" EXACT [DOID:2687, NCIT:C5585] synonym: "sarcoma of skin" EXACT [NCIT:C5585] synonym: "sarcoma of the skin" EXACT [NCIT:C5585] synonym: "sarcoma of zone of skin" EXACT [MONDO:patterns/sarcoma] synonym: "skin sarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "skin sarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "skin sarcoma" EXACT [NCIT:C5585] synonym: "zone of skin sarcoma" EXACT [MONDO:patterns/location] xref: DOID:2687 {source="MONDO:equivalentTo"} xref: EFO:1000531 {source="MONDO:equivalentTo"} xref: MONDO:0006414 xref: NCIT:C5585 {source="EFO:1000531", source="MONDO:equivalentTo", source="DOID:2687", source="exact-label-match"} xref: NCIT:C5585 {source="EFO:1000531", source="MONDO:equivalentTo", source="DOID:2687", source="MONDO:exact-label-match"} xref: UMLS:C0856900 {source="NCIT:C5585", source="MONDO:equivalentTo", source="DOID:2687"} is_a: EFO:1001968 {source="NCIT:C5585"} ! soft tissue sarcoma is_a: MONDO:0003363 {source="NCIT:C5585"} ! malignant dermis tumor property_value: exactMatch DOID:2687 property_value: exactMatch DOID:2687 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0856900 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0856900 property_value: exactMatch NCIT:C5585 property_value: exactMatch NCIT:C5585 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/sarcoma.yaml [Term] id: EFO:1000532 name: small intestinal adenocarcinoma def: "An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma." [NCIT:C7888] subset: ordo_disease {source="Orphanet:104075"} synonym: "adenocarcinoma - small intest." EXACT [NCIT:C7888] synonym: "adenocarcinoma of small bowel" EXACT [NCIT:C7888, Orphanet:104075] synonym: "adenocarcinoma of small instestine" EXACT [MONDO:0015189] synonym: "adenocarcinoma of small intestine" EXACT [DOID:4906, NCIT:C7888] synonym: "adenocarcinoma of the small bowel" EXACT [NCIT:C7888] synonym: "adenocarcinoma of the small instestine" RELATED [Orphanet:104075] synonym: "adenocarcinoma of the small intestine" EXACT [NCIT:C7888] synonym: "small bowel adenocarcinoma" EXACT [NCIT:C7888] synonym: "small intestinal adenocarcinoma" EXACT [DOID:4906, MONDO:0006415, NCIT:C7888] synonym: "small intestine adenocarcinoma" EXACT [MONDO:patterns/location] synonym: "small intestine adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "small intestine adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: DOID:4906 {source="MONDO:equivalentTo"} xref: EFO:1000532 {source="MONDO:equivalentTo"} xref: GARD:0013090 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10:D01.4 {source="ORDO:104075/ntbt", source="Orphanet:104075"} xref: MONDO:0003198 xref: NCIT:C7888 {source="MONDO:equivalentTo", source="DOID:4906"} xref: Orphanet:104075 {source="MONDO:equivalentTo"} xref: SCTID:424440001 {source="MONDO:equivalentTo", source="DOID:4906"} xref: UMLS:C0278803 {source="MONDO:equivalentTo", source="NCIT:C7888", source="Orphanet:104075", source="DOID:4906"} is_a: EFO:0000228 {source="DOID:4906", source="EFO:1000532", source="MONDO:Redundant", source="NCIT:C7888"} ! adenocarcinoma is_a: EFO:0005588 {source="DOID:4906", source="MONDO:Redundant", source="NCIT:C7888", source="Orphanet:104075"} ! small intestine carcinoma property_value: exactMatch DOID:4906 property_value: exactMatch DOID:4906 property_value: exactMatch http://identifiers.org/snomedct/424440001 property_value: exactMatch http://identifiers.org/snomedct/424440001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278803 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278803 property_value: exactMatch NCIT:C7888 property_value: exactMatch NCIT:C7888 property_value: exactMatch Orphanet:104075 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/adenocarcinoma.yaml [Term] id: EFO:1000533 name: Small Intestinal Burkitt Lymphoma def: "A Burkitt lymphoma that arises from the small intestine." [NCIT:C27409] synonym: "Burkitt lymphoma of small intestine" EXACT [] synonym: "Burkitts lymphoma of small intestine" EXACT [MONDO:design_pattern] synonym: "primary small intestinal Burkitt's lymphoma" EXACT [NCIT:C27409] synonym: "small intestinal Burkitt lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "small intestinal Burkitt lymphoma" EXACT [NCIT:C27409] synonym: "small intestinal Burkitt lymphoma" EXACT [] {comment="preferred label from MONDO"} synonym: "small intestinal Burkitt's lymphoma" EXACT [NCIT:C27409] synonym: "small intestine Burkitt lymphoma" EXACT [MONDO:patterns/location, NCIT:C27409] synonym: "small intestine Burkitt's lymphoma" EXACT [NCIT:C27409] synonym: "small intestine Burkitts lymphoma" EXACT [MONDO:patterns/location] xref: EFO:1000533 {source="MONDO:equivalentTo"} xref: MONDO:0006416 xref: NCIT:C27409 {source="MONDO:equivalentTo", source="EFO:1000533", source="exact-label-match"} xref: NCIT:C27409 {source="MONDO:equivalentTo", source="EFO:1000533", source="MONDO:exact-label-match"} xref: UMLS:C1335991 {source="MONDO:equivalentTo", source="NCIT:C27409"} is_a: EFO:0000309 {source="EFO:1000533", source="MONDO:Redundant", source="NCIT:C27409"} ! Burkitts lymphoma is_a: MONDO:0000621 ! immune system cancer is_a: MONDO:0001852 {source="MONDO:Redundant", source="NCIT:C27409/inferred"} ! small intestine lymphoma is_a: Orphanet:271835 ! Genetic digestive tract tumor property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335991 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335991 property_value: exactMatch NCIT:C27409 property_value: exactMatch NCIT:C27409 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:1000534 name: Small Intestinal Diffuse Large B-Cell Lymphoma def: "A diffuse large B-cell lymphoma that arises from the small intestine." [NCIT:C96055] synonym: "diffuse large B-cell lymphoma of small intestine" EXACT [MONDO:design_pattern] synonym: "small intestinal diffuse large B-cell lymphoma" EXACT [] {comment="preferred label from MONDO"} synonym: "small intestinal diffuse large B-cell lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "small intestinal diffuse large B-cell lymphoma" EXACT [NCIT:C96055] synonym: "small intestine diffuse large B-cell lymphoma" EXACT [MONDO:patterns/location] xref: EFO:1000534 {source="MONDO:equivalentTo"} xref: MONDO:0006417 xref: NCIT:C96055 {source="MONDO:equivalentTo", source="EFO:1000534", source="MONDO:exact-label-match"} xref: NCIT:C96055 {source="MONDO:equivalentTo", source="EFO:1000534", source="exact-label-match"} xref: UMLS:C3272522 {source="MONDO:equivalentTo", source="NCIT:C96055"} is_a: EFO:0000403 {source="EFO:1000534", source="MONDO:Redundant", source="NCIT:C96055"} ! diffuse large B-cell lymphoma is_a: MONDO:0000621 ! immune system cancer is_a: MONDO:0001852 {source="MONDO:Redundant", source="NCIT:C96055/inferred"} ! small intestine lymphoma relationship: EFO:0000784 CL:0000945 ! has_disease_location lymphocyte of B lineage property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3272522 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3272522 property_value: exactMatch NCIT:C96055 property_value: exactMatch NCIT:C96055 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:1000535 name: Small Intestinal Enteropathy-Associated T-Cell Lymphoma def: "An enteropathy-associated T-cell lymphoma arising from the small intestine, most commonly the jejunum or ileum. Patients usually present with abdominal pain, often associated with intestinal perforation. There is often a history of celiac disease. The lymphoma cells are usually medium-sized to large and form an ulcerating mucosal lesion with invasion of the small intestinal wall. Villous atrophy is present in the adjacent small intestinal mucosa. In a minority of cases the lymphoma cells are medium-sized and form a monomorphic infiltrate." [NCIT:P378] synonym: "enteropathy-associated T-cell lymphoma of small intestine" EXACT [MONDO:design_pattern] synonym: "small intestinal EATL" EXACT [NCIT:C39610] synonym: "small intestinal enteropathy-associated T-cell lymphoma" EXACT [] {comment="preferred label from MONDO"} synonym: "small intestinal enteropathy-associated T-cell lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "small intestinal enteropathy-type T-cell lymphoma" EXACT [NCIT:C39610] synonym: "small intestine enteropathy-associated T-cell lymphoma" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: EFO:1000535 {source="MONDO:equivalentTo"} xref: MONDO:0006418 xref: NCIT:C39610 {source="MONDO:equivalentTo", source="EFO:1000535"} xref: UMLS:C1519371 {source="NCIT:C39610", source="MONDO:equivalentTo"} is_a: MONDO:0000621 ! immune system cancer is_a: MONDO:0001852 ! small intestine lymphoma is_a: MONDO:0004805 ! leukocyte disorder is_a: MONDO:0019473 {source="MONDO:Redundant", source="NCIT:C39610"} ! enteropathy-associated T-cell lymphoma relationship: EFO:0000784 CL:0000084 ! has_disease_location T cell property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519371 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519371 property_value: exactMatch NCIT:C39610 property_value: exactMatch NCIT:C39610 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:1000536 name: Small Intestinal Intraepithelial Neoplasia def: "A precancerous neoplastic process that affects the small intestine. It is characterized by low or high grade dysplasia of the mucosal epithelium. There is no evidence of invasion." [NCIT:C27462] synonym: "small intestinal dysplasia" EXACT [NCIT:C27462] synonym: "small intestinal intraepithelial neoplasia" EXACT [] {comment="preferred label from MONDO"} synonym: "small intestinal intraepithelial neoplasia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "small intestinal intraepithelial neoplasia" EXACT [NCIT:C27462] xref: EFO:1000536 {source="MONDO:equivalentTo"} xref: MONDO:0006419 xref: NCIT:C27462 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000536"} xref: NCIT:C27462 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000536"} xref: UMLS:C1335999 {source="NCIT:C27462", source="MONDO:equivalentTo"} is_a: EFO:0004142 {source="EFO:1000536"} ! colorectal neoplasm is_a: MONDO:0004251 {source="MONDO:Redundant", source="NCIT:C27462"} ! small intestine neoplasm is_a: MONDO:0024474 ! intraepithelial neoplasia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335999 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335999 property_value: exactMatch NCIT:C27462 property_value: exactMatch NCIT:C27462 [Term] id: EFO:1000537 name: Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma def: "A mucosa-associated lymphoid tissue lymphoma (MALT) that arises from the small intestine. The morphologic characteristics are similar to those seen in gastric MALT lymphomas, with the exception of the lymphoepithelial lesions that are less prominent in the small intestine." [NCIT:C5635] synonym: "MALT lymphoma of small bowel" EXACT [NCIT:C5635] synonym: "MALT lymphoma of small intestine" EXACT [NCIT:C5635] synonym: "MALT lymphoma of the small bowel" EXACT [NCIT:C5635] synonym: "MALT lymphoma of the small intestine" EXACT [NCIT:C5635] synonym: "MALToma of small bowel" EXACT [NCIT:C5635] synonym: "MALToma of small intestine" EXACT [NCIT:C5635] synonym: "MALToma of the small bowel" EXACT [NCIT:C5635] synonym: "MALToma of the small intestine" EXACT [NCIT:C5635] synonym: "mucosa-associated lymphoid tissue lymphoma of small bowel" EXACT [NCIT:C5635] synonym: "mucosa-associated lymphoid tissue lymphoma of small intestine" EXACT [NCIT:C5635] synonym: "mucosa-associated lymphoid tissue lymphoma of the small bowel" EXACT [NCIT:C5635] synonym: "mucosa-associated lymphoid tissue lymphoma of the small intestine" EXACT [NCIT:C5635] synonym: "small bowel MALT lymphoma" EXACT [NCIT:C5635] synonym: "small bowel MALToma" EXACT [NCIT:C5635] synonym: "small bowel mucosa-associated lymphoid tissue lymphoma" EXACT [NCIT:C5635] synonym: "small intestinal mucosa-associated lymphoid tissue lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "small intestinal mucosa-associated lymphoid tissue lymphoma" EXACT [NCIT:C5635] synonym: "small intestinal mucosa-associated lymphoid tissue lymphoma" EXACT [] {comment="preferred label from MONDO"} synonym: "small intestine MALT lymphoma" EXACT [MONDO:patterns/location, NCIT:C5635] synonym: "small intestine MALToma" EXACT [NCIT:C5635] synonym: "small intestine mucosa-associated lymphoid tissue lymphoma" EXACT [NCIT:C5635] xref: EFO:1000537 {source="MONDO:equivalentTo"} xref: MONDO:0006420 xref: NCIT:C5635 {source="MONDO:equivalentTo", source="EFO:1000537", source="exact-label-match"} xref: NCIT:C5635 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000537"} xref: UMLS:C1336004 {source="MONDO:equivalentTo", source="NCIT:C5635"} is_a: EFO:0000191 {source="MONDO:Redundant", source="NCIT:C5635"} ! MALT lymphoma is_a: MONDO:0001852 ! small intestine lymphoma is_a: Orphanet:271835 ! Genetic digestive tract tumor property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336004 property_value: exactMatch NCIT:C5635 property_value: exactMatch NCIT:C5635 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:1000538 name: Small Intestinal Tubular Adenoma def: "A usually polypoid neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." [NCIT:C43552] synonym: "small intestinal tubular adenoma" EXACT [] {comment="preferred label from MONDO"} synonym: "small intestinal tubular adenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:1000538 {source="MONDO:equivalentTo"} xref: MONDO:0006421 xref: NCIT:C43552 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000538"} xref: NCIT:C43552 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000538"} xref: UMLS:C1710112 {source="MONDO:equivalentTo", source="NCIT:C43552"} is_a: MONDO:0021303 ! adenoma of small intestine is_a: MONDO:0024660 ! tubular adenoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1710112 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1710112 property_value: exactMatch NCIT:C43552 property_value: exactMatch NCIT:C43552 [Term] id: EFO:1000539 name: Small Intestinal Tubulovillous Adenoma def: "A neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." [NCIT:C43553] synonym: "small intestinal tubulovillous adenoma" EXACT [] {comment="preferred label from MONDO"} synonym: "small intestinal tubulovillous adenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:1000539 {source="MONDO:equivalentTo"} xref: MONDO:0006422 xref: NCIT:C43553 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000539"} xref: NCIT:C43553 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000539"} xref: UMLS:C1710113 {source="MONDO:equivalentTo", source="NCIT:C43553"} is_a: MONDO:0021303 ! adenoma of small intestine is_a: MONDO:0024661 {source="MONDO:Redundant", source="NCIT:C43553"} ! tubulovillous adenoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1710113 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1710113 property_value: exactMatch NCIT:C43553 property_value: exactMatch NCIT:C43553 [Term] id: EFO:1000540 name: Soft Tissue Chondroma alt_id: MONDO:0002780 def: "A benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification." [NCIT:C9482] synonym: "chondroma of soft parts" EXACT [NCIT:C9482] synonym: "extraskeletal chondroma" EXACT [NCIT:C9482] synonym: "extraskeletal osteochondroma" EXACT [NCIT:C9482] synonym: "soft tissue chondroma" EXACT [] {comment="preferred label from MONDO"} synonym: "soft tissue chondroma" EXACT [NCIT:C9482] synonym: "soft tissue chondroma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: DOID:3814 {source="MONDO:equivalentTo"} xref: EFO:1000540 {source="MONDO:equivalentTo"} xref: MONDO:0006423 xref: NCIT:C9482 {source="EFO:1000540", source="MONDO:equivalentTo"} xref: SCTID:404078000 {source="MONDO:equivalentTo"} xref: UMLS:C1275277 {source="MONDO:equivalentTo", source="NCIT:C9482"} is_a: MONDO:0002360 {source="NCIT:C9482"} ! chondroma is_a: MONDO:0044335 {source="NCIT:C9482/inferred"} ! benign soft tissue neoplasm property_value: exactMatch DOID:3814 property_value: exactMatch DOID:3814 property_value: exactMatch http://identifiers.org/snomedct/404078000 property_value: exactMatch http://identifiers.org/snomedct/404078000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275277 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275277 property_value: exactMatch NCIT:C9482 property_value: exactMatch NCIT:C9482 [Term] id: EFO:1000541 name: Soft Tissue Neoplasm def: "A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms." [NCIT:C3377] synonym: "neoplasm of soft tissue" EXACT [NCIT:C3377] synonym: "neoplasm of the soft tissue" EXACT [NCIT:C3377] synonym: "soft tissue neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "soft tissue neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "soft tissue neoplasm" EXACT [NCIT:C3377] synonym: "soft tissue tumor" EXACT [NCIT:C3377] synonym: "soft tissue tumors" EXACT [NCIT:C3377] synonym: "soft tissue tumour" EXACT OMO:0003005 [] synonym: "soft tissue tumours" EXACT OMO:0003005 [] synonym: "SOFTTISSUE" RELATED ABBREVIATION [ONCOTREE:SOFTTISSUE] synonym: "tumor of soft tissue" EXACT [NCIT:C3377] synonym: "tumor of the soft tissue" EXACT [NCIT:C3377] synonym: "tumour of soft tissue" EXACT OMO:0003005 [] synonym: "tumour of the soft tissue" EXACT OMO:0003005 [] xref: EFO:1000541 {source="MONDO:equivalentTo"} xref: MONDO:0006424 xref: NCIT:C3377 {source="MONDO:equivalentTo", source="EFO:1000541"} xref: ONCOTREE:SOFTTISSUE {source="MONDO:equivalentTo"} xref: SCTID:387837005 {source="MONDO:equivalentTo"} is_a: MONDO:0044334 {source="NCIT:C3377"} ! connective and soft tissue neoplasm property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0037579 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0225317 property_value: closeMatch NCIT:C12471 property_value: exactMatch http://identifiers.org/snomedct/387837005 property_value: exactMatch http://identifiers.org/snomedct/387837005 property_value: exactMatch NCIT:C3377 property_value: exactMatch NCIT:C3377 [Term] id: EFO:1000542 name: Solid Pseudopapillary Neoplasm of the Pancreas def: "A low-grade malignant neoplasm that arises from the exocrine pancreas. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. Perineural invasion, vascular invasion, and invasion into surrounding tissues may be present. It usually presents as an encapsulated, solitary, and lobulated pancreatic mass. It is usually found incidentally during physical examination or it may present with abdominal discomfort and pain. It occurs predominantly in young women. Complete removal of the tumor is curative in the majority of cases." [] xref: NCIt:C37212 is_a: EFO:0003860 ! pancreatic neoplasm [Term] id: EFO:1000543 name: Spinal Chordoma def: "A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the spine. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells." [NCIT:P378] synonym: "chordoma of spinal column" EXACT [NCIT:C5156] synonym: "chordoma of spine" EXACT [DOID:4153, NCIT:C5156] synonym: "chordoma of the spinal column" EXACT [NCIT:C5156] synonym: "spinal chordoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "spinal chordoma" EXACT [NCIT:C5156] synonym: "spinal chordoma" EXACT [] {comment="preferred label from MONDO"} synonym: "spinal Chordomas" EXACT [NCIT:C5156] synonym: "spinal column chordoma" EXACT [NCIT:C5156] xref: DOID:4153 {source="MONDO:equivalentTo"} xref: EFO:1000543 {source="MONDO:equivalentTo"} xref: MONDO:0002894 xref: NCIT:C5156 {source="MONDO:equivalentTo", source="EFO:1000543", source="DOID:4153"} xref: UMLS:C1859101 {source="NCIT:C5156", source="MONDO:equivalentTo"} is_a: EFO:0009488 ! spinal cord disease is_a: MONDO:0008978 {source="DOID:4153", source="NCIT:C5156"} ! chordoma is_a: MONDO:0023603 ! hereditary disorder of connective tissue is_a: Orphanet:183527 ! Genetic bone tumor property_value: exactMatch DOID:4153 property_value: exactMatch DOID:4153 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859101 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859101 property_value: exactMatch NCIT:C5156 property_value: exactMatch NCIT:C5156 [Term] id: EFO:1000544 name: Spinal Cord Astrocytoma def: "A low or high grade astrocytoma that arises in the spinal cord." [NCIT:C4641] synonym: "astrocytoma (excluding glioblastoma) of spinal cord" EXACT [MONDO:design_pattern] synonym: "astrocytoma of spinal cord" EXACT [NCIT:C4641] synonym: "astrocytoma of the spinal cord" EXACT [NCIT:C4641] synonym: "spinal astrocytoma" EXACT [DOID:4863, NCIT:C4641] synonym: "spinal cord astrocytoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "spinal cord astrocytoma" EXACT [MONDO:patterns/location, NCIT:C4641] synonym: "spinal cord astrocytoma" EXACT [] {comment="preferred label from MONDO"} synonym: "spinal cord astrocytoma (excluding glioblastoma)" EXACT [MONDO:patterns/location] xref: DOID:4863 {source="MONDO:equivalentTo"} xref: EFO:1000544 {source="MONDO:equivalentTo"} xref: MONDO:0003174 xref: NCIT:C4641 {source="DOID:4863", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C4641 {source="DOID:4863", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:254948003 {source="DOID:4863", source="MONDO:equivalentTo"} xref: UMLS:C0349540 {source="DOID:4863", source="MONDO:equivalentTo", source="NCIT:C4641"} is_a: EFO:0000272 {source="DOID:4863", source="MONDO:Redundant", source="NCIT:C4641"} ! astrocytoma is_a: MONDO:0002542 {source="DOID:4863", source="NCIT:C4641"} ! spinal cord glioma property_value: exactMatch DOID:4863 property_value: exactMatch DOID:4863 property_value: exactMatch http://identifiers.org/snomedct/254948003 property_value: exactMatch http://identifiers.org/snomedct/254948003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349540 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349540 property_value: exactMatch NCIT:C4641 property_value: exactMatch NCIT:C4641 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:1000545 name: Spinal Cord Primitive Neuroectodermal Tumor def: "A central nervous system embryonal tumor, not otherwise specified arising from the spinal cord." [NCIT:C5406] synonym: "primitive neuroectodermal neoplasm of spinal cord" EXACT [NCIT:C5406] synonym: "primitive neuroectodermal neoplasm of the spinal cord" EXACT [NCIT:C5406] synonym: "primitive neuroectodermal tumor of spinal cord" EXACT [NCIT:C5406] synonym: "primitive neuroectodermal tumor of the spinal cord" EXACT [NCIT:C5406] synonym: "primitive neuroectodermal tumour of spinal cord" EXACT OMO:0003005 [] synonym: "primitive neuroectodermal tumour of the spinal cord" EXACT OMO:0003005 [] synonym: "spinal cord PNET" EXACT [DOID:6872, NCIT:C5406] synonym: "spinal cord primitive neuroectodermal neoplasm" EXACT [NCIT:C5406] synonym: "spinal cord primitive neuroectodermal tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "spinal cord primitive neuroectodermal tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "spinal cord primitive neuroectodermal tumor" EXACT [NCIT:C5406] xref: DOID:6872 {source="MONDO:equivalentTo"} xref: EFO:1000545 {source="MONDO:equivalentTo"} xref: MONDO:0006426 xref: NCIT:C5406 {source="DOID:6872", source="MONDO:equivalentTo", source="EFO:1000545"} xref: UMLS:C1336048 {source="DOID:6872", source="MONDO:equivalentTo"} is_a: MONDO:0000640 {source="DOID:6872", source="MONDO:Redundant", source="NCIT:C5406"} ! central nervous system primitive neuroectodermal neoplasm is_a: MONDO:0003544 {source="DOID:6872", source="MONDO:Redundant", source="NCIT:C5406"} ! spinal cord cancer property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0346298 property_value: exactMatch DOID:6872 property_value: exactMatch DOID:6872 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336048 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336048 property_value: exactMatch NCIT:C5406 property_value: exactMatch NCIT:C5406 [Term] id: EFO:1000546 name: Spindle Cell Melanoma def: "A melanoma characterized by the presence of malignant spindle-shaped melanocytes." [NCIT:C4237] synonym: "desmoplastic melanoma" RELATED [DOID:3162] synonym: "malignant spindle cell melanoma" EXACT [MONDO:0002530, NCIT:C4237] synonym: "spindle cell malignant melanoma" EXACT [DOID:3162, NCIT:C4237] synonym: "spindle cell melanoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "spindle cell melanoma" EXACT [DOID:3162, MTH:NOCODE, NCIT:C4237] synonym: "spindle cell melanoma" EXACT [] {comment="preferred label from MONDO"} synonym: "spitzoid malignant melanoma" EXACT [DOID:3162] xref: DOID:3162 {source="MONDO:equivalentTo"} xref: EFO:1000546 {source="MONDO:equivalentTo"} xref: ICDO:8772/3 {source="NCIT:C4237"} xref: MONDO:0006427 xref: NCIT:C4237 {source="MONDO:equivalentTo", source="EFO:1000546", source="DOID:3162"} xref: SCTID:403923002 {source="MONDO:equivalentTo", source="DOID:3162"} xref: UMLS:C0334444 {source="MONDO:equivalentTo", source="NCIT:C4237", source="DOID:3162"} is_a: EFO:0000705 ! spindle cell tumor is_a: EFO:0000756 {source="DOID:3162", source="NCIT:C4237"} ! melanoma property_value: closeMatch http://identifiers.org/snomedct/189756002 property_value: closeMatch http://identifiers.org/snomedct/68827007 property_value: exactMatch DOID:3162 property_value: exactMatch DOID:3162 property_value: exactMatch http://identifiers.org/snomedct/403923002 property_value: exactMatch http://identifiers.org/snomedct/403923002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334444 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334444 property_value: exactMatch NCIT:C4237 property_value: exactMatch NCIT:C4237 [Term] id: EFO:1000547 name: Splenic Diffuse Large B-Cell Lymphoma def: "A diffuse large B-cell lymphoma occurring in the spleen." [NCIT:C7308] synonym: "primary splenic diffuse large B-cell lymphoma" EXACT [NCIT:C7308] synonym: "splenic diffuse large B-cell lymphoma" EXACT [] {comment="preferred label from MONDO"} synonym: "splenic diffuse large B-cell lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "splenic diffuse large B-cell lymphoma" EXACT [NCIT:C7308] xref: EFO:1000547 {source="MONDO:equivalentTo"} xref: MONDO:0006428 xref: NCIT:C7308 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000547"} xref: NCIT:C7308 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000547"} xref: UMLS:C2018774 {source="MONDO:equivalentTo", source="NCIT:C7308"} is_a: EFO:0000403 {source="NCIT:C7308"} ! diffuse large B-cell lymphoma is_a: EFO:0009002 ! splenic disease relationship: EFO:0000784 CL:0000945 ! has_disease_location lymphocyte of B lineage property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2018774 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2018774 property_value: exactMatch NCIT:C7308 property_value: exactMatch NCIT:C7308 [Term] id: EFO:1000548 name: Splenic Hodgkin Lymphoma def: "A rare Hodgkin lymphoma that arises from the spleen." [NCIT:C7295] synonym: "Hodgkin's disease of spleen" EXACT [NCIT:C7295] synonym: "Hodgkin's disease of the spleen" EXACT [NCIT:C7295] synonym: "Hodgkin's lymphoma of spleen" EXACT [NCIT:C7295] synonym: "Hodgkin's lymphoma of the spleen" EXACT [NCIT:C7295] synonym: "primary splenic Hodgkin's lymphoma" EXACT [NCIT:C7295] synonym: "splenic hodgkin lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "splenic hodgkin lymphoma" EXACT [] {comment="preferred label from MONDO"} synonym: "splenic Hodgkin's disease" EXACT [NCIT:C7295] synonym: "splenic Hodgkin's lymphoma" EXACT [NCIT:C7295] synonym: "splenic Hodgkins lymphoma" EXACT [NCIT:C7295] xref: EFO:1000548 {source="MONDO:equivalentTo"} xref: MONDO:0006429 xref: NCIT:C7295 {source="MONDO:equivalentTo", source="EFO:1000548", source="exact-label-match"} xref: NCIT:C7295 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000548"} xref: SCTID:93527005 {source="MONDO:equivalentTo"} xref: UMLS:C0153791 {source="MONDO:equivalentTo", source="NCIT:C7295"} is_a: EFO:0000183 {source="EFO:1000548", source="NCIT:C7295"} ! Hodgkins lymphoma is_a: EFO:0009002 ! splenic disease property_value: exactMatch http://identifiers.org/snomedct/93527005 property_value: exactMatch http://identifiers.org/snomedct/93527005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153791 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153791 property_value: exactMatch NCIT:C7295 property_value: exactMatch NCIT:C7295 [Term] id: EFO:1000549 name: Splenic Mantle Cell Lymphoma def: "A mantle cell lymphoma occurring in the spleen." [NCIT:C7306] synonym: "splenic mantle cell lymphoma" EXACT [] {comment="preferred label from MONDO"} synonym: "splenic mantle cell lymphoma" EXACT [NCIT:C7306] synonym: "splenic mantle cell lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:1000549 {source="MONDO:equivalentTo"} xref: MONDO:0006430 xref: NCIT:C7306 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000549"} xref: NCIT:C7306 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000549"} xref: UMLS:C2018777 {source="MONDO:equivalentTo", source="NCIT:C7306"} is_a: EFO:0009002 ! splenic disease is_a: EFO:1001469 {source="NCIT:C7306"} ! Mantle cell lymphoma relationship: EFO:0000784 EFO:1001468 ! has_disease_location mantle cell property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2018777 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2018777 property_value: exactMatch NCIT:C7306 property_value: exactMatch NCIT:C7306 [Term] id: EFO:1000550 name: Splenic Marginal Zone Lymphoma def: "Splenic marginal zone lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement in the spleen, bone marrow and, frequently, the blood. It usually presents with splenomegaly, lymphocytosis, anemia and/or thrombocytopenia. Hepatitis C virus and autoimmune manifestations, such as autoimmune hemolytic anemia and autoimmune thrombocytopenia, could be associated." [Orphanet:86854] subset: ordo_disease {source="Orphanet:86854"} synonym: "marginal zone lymphoma of spleen" EXACT [NCIT:C4663] synonym: "marginal zone lymphoma of the spleen" EXACT [NCIT:C4663] synonym: "SLVL" EXACT ABBREVIATION [NCIT:C4663] synonym: "SMZL" EXACT ABBREVIATION [NCIT:C4663, ONCOTREE:SMZL, Orphanet:86854] synonym: "splenic lymphoma with circulating villous lymphocytes" EXACT [NCIT:C4663] synonym: "splenic marginal zone B-cell lymphoma" EXACT [NCIT:C4663] synonym: "splenic marginal zone B-cell lymphoma with villous lymphocytes" EXACT [NCIT:C4663] synonym: "splenic marginal zone lymphoma" EXACT [] {comment="preferred label from MONDO"} synonym: "splenic marginal zone lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "splenic marginal zone lymphoma" EXACT [MONDO:0006431, NCIT:C4663] synonym: "splenic marginal zone lymphoma with villous lymphocytes" EXACT [NCIT:C4663] xref: DOID:0050750 {source="MONDO:equivalentTo"} xref: EFO:1000550 {source="MONDO:equivalentTo"} xref: ICD10:C83.0 {source="Orphanet:86854", source="ORDO:86854/ntbt"} xref: ICDO:9689/3 {source="NCIT:C4663"} xref: MedDRA:10062113 {source="Orphanet:86854", source="Orphanet:86854/e"} xref: MedDRA:10062113 {source="ORDO:86854/e", source="Orphanet:86854"} xref: MONDO:0019462 xref: NCIT:C4663 {source="EFO:1000550", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C4663 {source="EFO:1000550", source="MONDO:equivalentTo", source="exact-label-match"} xref: ONCOTREE:SMZL {source="MONDO:equivalentTo"} xref: Orphanet:86854 {source="MONDO:equivalentTo"} xref: SCTID:763666008 {source="MONDO:equivalentTo"} xref: UMLS:C0349632 {source="Orphanet:86854", source="MONDO:equivalentTo", source="NCIT:C4663"} is_a: EFO:1000630 {source="DOID:0050750", source="EFO:1000550", source="NCIT:C4663", source="ONCOTREE:SMZL", source="Orphanet:86854"} ! marginal zone B-cell lymphoma property_value: closeMatch http://identifiers.org/meddra/10062113 property_value: exactMatch DOID:0050750 property_value: exactMatch DOID:0050750 property_value: exactMatch http://identifiers.org/meddra/10062113 property_value: exactMatch http://identifiers.org/snomedct/763666008 property_value: exactMatch http://identifiers.org/snomedct/763666008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349632 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349632 property_value: exactMatch NCIT:C4663 property_value: exactMatch NCIT:C4663 property_value: exactMatch Orphanet:86854 [Term] id: EFO:1000551 name: Stromal Predominant Kidney Wilms Tumor def: "Wilms tumor of the kidney characterized by the predominance of the mesenchymal component." [NCIT:C9148] synonym: "stromal predominant kidney adenosarcoma" EXACT [NCIT:C9148] synonym: "stromal predominant kidney Wilms tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "stromal predominant kidney Wilms tumor" EXACT [NCIT:C9148] synonym: "stromal predominant kidney Wilms tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "stromal predominant kidney Wilms' tumor" EXACT [MONDO:0003324] synonym: "stromal predominant kidney Wilms' tumour" EXACT OMO:0003005 [] synonym: "stromal predominant nephroblastoma" EXACT [NCIT:C9148] synonym: "stromal predominant renal adenosarcoma" EXACT [NCIT:C9148] synonym: "stromal predominant renal Wilm's tumor" EXACT [NCIT:C9148] synonym: "stromal predominant renal Wilm's tumour" EXACT OMO:0003005 [] synonym: "stromal predominant renal Wilms tumor" EXACT [DOID:5191, NCIT:C9148] synonym: "stromal predominant renal Wilms tumour" EXACT OMO:0003005 [] synonym: "stromal predominant renal Wilms' tumor" EXACT [NCIT:C9148] synonym: "stromal predominant renal Wilms' tumour" EXACT OMO:0003005 [] synonym: "stromal predominant Wilms tumor" EXACT [NCIT:C9148] synonym: "stromal predominant Wilms tumour" EXACT OMO:0003005 [] xref: DOID:5191 {source="MONDO:equivalentTo"} xref: EFO:1000551 {source="MONDO:equivalentTo"} xref: MONDO:0006432 xref: NCIT:C9148 {source="EFO:1000551", source="DOID:5191", source="MONDO:equivalentTo"} xref: UMLS:C0279610 {source="NCIT:C9148", source="DOID:5191", source="MONDO:equivalentTo"} is_a: MONDO:0003321 ! hereditary Wilms tumor is_a: MONDO:0019004 {source="DOID:5191", source="EFO:1000551", source="NCIT:C9148"} ! kidney Wilms tumor is_a: Orphanet:654 ! Nephroblastoma property_value: exactMatch DOID:5191 property_value: exactMatch DOID:5191 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279610 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279610 property_value: exactMatch NCIT:C9148 property_value: exactMatch NCIT:C9148 [Term] id: EFO:1000552 name: Subcutaneous Panniculitis-Like T-Cell Lymphoma def: "Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic cutaneous lymphoma that has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue." [Orphanet:86884] subset: ordo_disease {source="Orphanet:86884"} synonym: "SPTCL" EXACT ABBREVIATION [ONCOTREE:SPTCL, Orphanet:86884] synonym: "subcutaneous panniculitic T-cell lymphoma" EXACT [Orphanet:86884] synonym: "subcutaneous panniculitis-like T-cell lymphoma" EXACT [] {comment="preferred label from MONDO"} synonym: "subcutaneous panniculitis-like T-cell lymphoma" EXACT [MONDO:0006433] synonym: "subcutaneous panniculitis-like T-cell lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "subcutaneous panniculitis-like T-cell lymphoma (Alpha/Beta type)" EXACT [NCIT:C6918] synonym: "subcutaneous panniculitis-like T-cell lymphoma, Alpha/Beta type" EXACT [NCIT:C6918] synonym: "T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE" RELATED [OMIM:618398] xref: EFO:1000552 {source="MONDO:equivalentTo"} xref: GARD:0010193 {source="MONDO:equivalentTo"} xref: ICD10:C83.6 {source="Orphanet:86884", source="ORDO:86884/e"} xref: ICD10:C86.3 {source="MONDO:equivalentTo"} xref: ICD10CM:C86.3 {source="MONDO:equivalentTo"} xref: ICD9:202.70 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:202.70 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9708/3 {source="NCIT:C6918"} xref: MESH:C537503 {source="Orphanet:86884", source="MONDO:equivalentTo", source="ORDO:86884/e"} xref: MESH:C537503 {source="Orphanet:86884", source="MONDO:equivalentTo", source="Orphanet:86884/e"} xref: MONDO:0019475 xref: NCIT:C6918 {source="MONDO:equivalentTo", source="EFO:1000552"} xref: OMIM:618398 {source="MONDO:equivalentTo"} xref: ONCOTREE:SPTCL {source="MONDO:equivalentTo"} xref: Orphanet:86884 {source="MONDO:equivalentTo", source="OMIM:618398"} xref: SCTID:404133000 {source="MONDO:equivalentTo"} xref: UMLS:C0522624 {source="NCIT:C6918", source="Orphanet:86884", source="MONDO:equivalentTo", source="OMIM:618398"} is_a: MONDO:0000621 ! immune system cancer is_a: MONDO:0004805 ! leukocyte disorder is_a: MONDO:0015816 {source="Orphanet:86884"} ! indolent primary cutaneous T-cell lymphoma is_a: MONDO:0015950 ! inherited skin tumor is_a: Orphanet:183487 ! Genetic skin tumor relationship: EFO:0000784 CL:0000084 ! has_disease_location T cell property_value: exactMatch http://identifiers.org/mesh/C537503 property_value: exactMatch http://identifiers.org/mesh/C537503 property_value: exactMatch http://identifiers.org/omim/618398 property_value: exactMatch http://identifiers.org/snomedct/404133000 property_value: exactMatch http://identifiers.org/snomedct/404133000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0522624 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0522624 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/C86.3 property_value: exactMatch https://omim.org/entry/618398 property_value: exactMatch NCIT:C6918 property_value: exactMatch NCIT:C6918 property_value: exactMatch Orphanet:86884 [Term] id: EFO:1000553 name: Subependymoma def: "Subependymoma is a rare and slow growing type of ependymoma, often presenting in middle-aged adults, found more commonly in men than in women, usually located in the fourth and lateral ventricles and manifesting with variable symptoms including headache, nausea, and loss of balance. In some cases it can be asymptomatic. It is usually associated with a better prognosis than other forms of ependymoma." [Orphanet:251639] subset: ordo_histopathological_subtype {source="Orphanet:251639"} subset: prototype_pattern synonym: "mixed subependymoma-ependymoma" EXACT [DOID:4843] synonym: "subependymal astrocytoma" EXACT [DOID:4843, NCIT:C3795, NCIT:C6989] synonym: "subependymal astrocytoma (formerly)" RELATED [GARD:0010070] synonym: "subependymal glioma" EXACT [NCIT:C3795] synonym: "subependymoma" EXACT [MONDO:0006985, NCIT:C3795] synonym: "subependymoma" EXACT [] {comment="preferred label from MONDO"} synonym: "subependymoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "SUBEPENDYMOMA, benign" EXACT [NCIT:C3795] synonym: "WHO grade I ependymal neoplasm" EXACT [NCIT:C3795] synonym: "WHO grade I ependymal tumor" EXACT [DOID:4843, NCIT:C3795] synonym: "WHO grade I ependymal tumour" EXACT OMO:0003005 [] xref: DOID:4843 {source="EFO:1001197", source="MONDO:equivalentTo"} xref: EFO:1000553 {source="MONDO:equivalentTo"} xref: EFO:1001197 {source="MONDO:equivalentTo"} xref: GARD:0010070 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10:D43.2 {source="Orphanet:251639", source="ORDO:251639/ntbt"} xref: ICDO:9383/1 {source="NCIT:C3795"} xref: MESH:D018315 {source="EFO:1001197", source="MONDO:equivalentTo", source="DOID:4843"} xref: MONDO:0007667 xref: NCIT:C3795 {source="EFO:1000553", source="MONDO:equivalentTo", source="DOID:4843"} xref: ONCOTREE:SUBE {source="MONDO:equivalentTo"} xref: Orphanet:251639 {source="MONDO:equivalentTo"} xref: UMLS:C0206725 {source="Orphanet:251639", source="MONDO:equivalentTo", source="DOID:4843", source="Orphanet:251639/e", source="NCIT:C3795"} xref: UMLS:C0206725 {source="Orphanet:251639", source="MONDO:equivalentTo", source="DOID:4843", source="NCIT:C3795", source="ORDO:251639/e"} is_a: MONDO:0016697 {source="Orphanet:251639"} ! low grade ependymoma property_value: closeMatch http://identifiers.org/snomedct/189910001 property_value: closeMatch http://identifiers.org/snomedct/4553004 property_value: exactMatch DOID:4843 property_value: exactMatch DOID:4843 property_value: exactMatch http://identifiers.org/mesh/D018315 property_value: exactMatch http://identifiers.org/mesh/D018315 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206725 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206725 property_value: exactMatch NCIT:C3795 property_value: exactMatch NCIT:C3795 property_value: exactMatch Orphanet:251639 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql [Term] id: EFO:1000554 name: Submandibular Gland Adenocarcinoma def: "An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma." [NCIT:C5940] synonym: "adenocarcinoma of submandibular gland" EXACT [NCIT:C5940] synonym: "adenocarcinoma of the submandibular gland" EXACT [NCIT:C5940] synonym: "submandibular gland adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "submandibular gland adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "submandibular gland adenocarcinoma" EXACT [NCIT:C5940] xref: EFO:1000554 {source="MONDO:equivalentTo"} xref: MONDO:0006435 xref: NCIT:C5940 {source="MONDO:equivalentTo", source="EFO:1000554", source="exact-label-match"} xref: NCIT:C5940 {source="MONDO:equivalentTo", source="EFO:1000554", source="MONDO:exact-label-match"} xref: UMLS:C1336521 {source="MONDO:equivalentTo", source="NCIT:C5940"} is_a: EFO:0000228 {source="EFO:1000554", source="NCIT:C5940/inferred"} ! adenocarcinoma is_a: MONDO:0004724 {source="NCIT:C5940"} ! submandibular gland cancer property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336521 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336521 property_value: exactMatch NCIT:C5940 property_value: exactMatch NCIT:C5940 [Term] id: EFO:1000555 name: Submandibular Gland Adenoid Cystic Carcinoma def: "An aggressive carcinoma that arises from the submandibular gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." [NCIT:C5935] synonym: "adenoid cystic carcinoma of submandibular gland" EXACT [NCIT:C5935] synonym: "adenoid cystic carcinoma of the submandibular gland" EXACT [NCIT:C5935] synonym: "submandibular gland adenoid cystic carcinoma" EXACT [NCIT:C5935] synonym: "submandibular gland adenoid cystic carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "submandibular gland adenoid cystic carcinoma" EXACT [] {comment="preferred label from MONDO"} xref: EFO:1000555 {source="MONDO:equivalentTo"} xref: MONDO:0006436 xref: NCIT:C5935 {source="MONDO:equivalentTo", source="EFO:1000555", source="exact-label-match"} xref: NCIT:C5935 {source="MONDO:equivalentTo", source="EFO:1000555", source="MONDO:exact-label-match"} xref: SCTID:423189008 {source="MONDO:equivalentTo"} xref: UMLS:C1336522 {source="MONDO:equivalentTo", source="NCIT:C5935"} is_a: MONDO:0004724 {source="NCIT:C5935"} ! submandibular gland cancer is_a: MONDO:0045063 ! major salivary gland adenoid cystic carcinoma property_value: exactMatch http://identifiers.org/snomedct/423189008 property_value: exactMatch http://identifiers.org/snomedct/423189008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336522 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336522 property_value: exactMatch NCIT:C5935 property_value: exactMatch NCIT:C5935 [Term] id: EFO:1000556 name: Superficial Fibromatosis def: "A poorly circumscribed, intermediate fibrocytic neoplasm arising from the superficial soft tissues. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern." [NCIT:C6814] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:199257"} synonym: "superficial Fibromatosis" EXACT [] {comment="preferred label from MONDO"} synonym: "superficial Fibromatosis" EXACT [MONDO:0006437, NCIT:C6814] synonym: "superficial Fibromatosis" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:1000556 {source="MONDO:equivalentTo"} xref: ICD10:M72.8 {source="Orphanet:199257", source="ORDO:199257/ntbt"} xref: ICD9:729.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:729.99 {source="MONDO:relatedTo", source="i2s"} xref: MONDO:0016037 xref: NCIT:C6814 {source="MONDO:equivalentTo", source="EFO:1000556", source="exact-label-match"} xref: NCIT:C6814 {source="MONDO:equivalentTo", source="EFO:1000556", source="MONDO:exact-label-match"} xref: Orphanet:199257 {source="MONDO:equivalentTo"} xref: SCTID:238853007 {source="MONDO:equivalentTo"} xref: UMLS:C0406571 {source="Orphanet:199257", source="MONDO:equivalentTo", source="Orphanet:199257/e", source="NCIT:C6814"} xref: UMLS:C0406571 {source="Orphanet:199257", source="ORDO:199257/e", source="MONDO:equivalentTo", source="NCIT:C6814"} is_a: EFO:0000497 {source="EFO:1000556", source="NCIT:C6814"} ! fibromatosis property_value: exactMatch http://identifiers.org/snomedct/238853007 property_value: exactMatch http://identifiers.org/snomedct/238853007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406571 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406571 property_value: exactMatch NCIT:C6814 property_value: exactMatch NCIT:C6814 property_value: exactMatch Orphanet:199257 property_value: excluded_subClassOf MONDO:0019300 {source="Orphanet:199257"} [Term] id: EFO:1000557 name: Synovial Chondromatosis def: "Synovial chondromatosis is a type of non-cancerous tumor that arises in the lining of a joint. The knee is most commonly affected, however it can affect any joint. The tumors begin as small nodules of cartilage. These nodules can separate and become loose within the joint. Some tumors may be no larger than a grain of rice. Synovial chondromatosis most commonly occurs in adults ages 20 to 50. Signs and symptoms may include pain, swelling, a decreased range of motion, and locking of the joint. The exact underlying cause of the condition is unknown. Treatment may involve surgery to remove the tumor. Recurrence of the condition is common." [GARD:0006054] def: "Synovial chondromatosis is a type of non-cancerous tumor that arises in the lining of a joint. The knee is most commonly affected, however it can affect any joint. The tumors begin as small nodules of cartilage. These nodules can separate and become loose within the joint. Some tumors may be no larger than a grain of rice. Synovial chondromatosis most commonly occurs in adults ages 20 to 50. Signs and symptoms may include pain, swelling, a decreased range of motion, and locking of the joint. The exact underlying cause of the condition is unknown. Treatment may involve surgery to remove the tumor. Recurrence of the condition is common." [https://rarediseases.info.nih.gov/diseases/6054/synovial-chondromatosis] subset: gard_rare {source="GARD:0006054"} synonym: "Henderson-Jones syndrome" EXACT [NCIT:C34467] synonym: "Reichel's syndrome" EXACT [NCIT:C34467] synonym: "synovial chondromatosis" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "synovial chondromatosis" EXACT [] {comment="preferred label from MONDO"} synonym: "synovial osteochondromatosis" RELATED [GARD:0006054] xref: EFO:1000557 {source="MONDO:equivalentTo"} xref: GARD:0006054 {source="MONDO:equivalentTo"} xref: MESH:D015838 {source="MONDO:equivalentTo"} xref: MONDO:0006438 xref: NCIT:C34467 {source="MONDO:equivalentTo", source="EFO:1000557"} xref: UMLS:C0008476 {source="MONDO:equivalentTo", source="GARD:0006054", source="NCIT:C34467"} is_a: EFO:0000691 ! sarcoma is_a: EFO:0002461 ! skeletal system disease is_a: EFO:0009676 {source="GARD:0006054", source="https://orcid.org/0000-0001-5208-3432"} ! musculoskeletal system disease is_a: MONDO:0044334 {source="NCIT:C3810", source="https://orcid.org/0000-0001-5208-3432"} ! connective and soft tissue neoplasm property_value: exactMatch http://identifiers.org/mesh/D015838 property_value: exactMatch http://identifiers.org/mesh/D015838 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008476 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008476 property_value: exactMatch NCIT:C34467 property_value: exactMatch NCIT:C34467 property_value: excluded_subClassOf MONDO:0005089 {source="EFO:1000557"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6054/synovial-chondromatosis xsd:anyURI {source="GARD:0006054"} [Term] id: EFO:1000558 name: Syringocystadenoma Papilliferum def: "A benign adnexal neoplasm occurring during childhood or adolescence. It usually presents as a papular lesion or a plaque on the head and neck. It may arise in an organoid nevus such as sebaceous. It is characterized by an endophytic invagination of the epithelium into the dermis. There are dermal cystic spaces present, containing villous projections. Complete excision is curative." [NCIT:C4172] subset: ordo_disease {source="Orphanet:840"} synonym: "fistulous vegetative verrucous hydradenoma" EXACT [Orphanet:840] synonym: "naevus syringocystadenomatosus papilliferus" EXACT [Orphanet:840] synonym: "papillary Syringadenoma" EXACT [NCIT:C4172] synonym: "papillary syringadenoma (morphologic abnormality)" EXACT [DOID:5445] synonym: "papillary Syringadenoma (syringocystadenoma papilliferum)" EXACT [DOID:5445, NCIT:C4172] synonym: "papillary syringocystadenoma" EXACT [NCIT:C4172] synonym: "SCAP" EXACT ABBREVIATION [Orphanet:840] synonym: "Syringadenoma" EXACT [NCIT:C4172] synonym: "Syringadenoma papilliferum" EXACT [Orphanet:840] synonym: "syringocystadenoma papilliferum" EXACT [MONDO:0006439, NCIT:C4172] synonym: "syringocystadenoma papilliferum" EXACT [] {comment="preferred label from MONDO"} synonym: "syringocystadenoma papilliferum" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: DOID:5445 {source="MONDO:equivalentTo"} xref: EFO:1000558 {source="MONDO:equivalentTo"} xref: GARD:0005100 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: ICD10:D23.9 {source="Orphanet:840", source="ORDO:840/ntbt"} xref: ICDO:8406/0 {source="NCIT:C4172"} xref: MedDRA:10042926 {source="Orphanet:840", source="Orphanet:840/e"} xref: MedDRA:10042926 {source="Orphanet:840", source="ORDO:840/e"} xref: MONDO:0019392 xref: NCIT:C4172 {source="DOID:5445", source="MONDO:equivalentTo", source="EFO:1000558"} xref: Orphanet:840 {source="MONDO:equivalentTo"} xref: SCTID:239121009 {source="DOID:5445", source="MONDO:equivalentTo"} xref: UMLS:C0406803 {source="NCIT:C4172", source="Orphanet:840", source="DOID:5445", source="MONDO:equivalentTo", source="Orphanet:840/e"} xref: UMLS:C0406803 {source="NCIT:C4172", source="Orphanet:840", source="DOID:5445", source="MONDO:equivalentTo", source="ORDO:840/e"} is_a: MONDO:0021110 {source="NCIT:C4172"} ! sweat gland adenoma property_value: closeMatch http://identifiers.org/meddra/10042926 property_value: closeMatch http://identifiers.org/snomedct/8934006 property_value: exactMatch DOID:5445 property_value: exactMatch DOID:5445 property_value: exactMatch http://identifiers.org/meddra/10042926 property_value: exactMatch http://identifiers.org/snomedct/239121009 property_value: exactMatch http://identifiers.org/snomedct/239121009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406803 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406803 property_value: exactMatch NCIT:C4172 property_value: exactMatch NCIT:C4172 property_value: exactMatch Orphanet:840 property_value: excluded_subClassOf MONDO:0003686 {source="DOID:5445"} property_value: excluded_subClassOf MONDO:0019300 {source="Orphanet:840"} [Term] id: EFO:1000559 name: Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease def: "Systemic mastocytosis with an associated clonal hematological non-mast cell lineage disease is a form of systemic mastocytosis (SM) associated with malignancy (other than mast cell leukemia)." [Orphanet:98849] subset: ordo_disease {source="Orphanet:98849"} synonym: "SM-AHN" EXACT ABBREVIATION [NCIT:C9284] synonym: "SM-AHNMD" EXACT ABBREVIATION [NCIT:C9284] synonym: "SMAHN" EXACT ABBREVIATION [ONCOTREE:SMAHN] synonym: "systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease" EXACT [] {comment="preferred label from MONDO"} synonym: "systemic mastocytosis with an associated haematological neoplasm" EXACT OMO:0003005 [] synonym: "systemic mastocytosis with an associated haematological neoplasm (SM-AHN)" EXACT OMO:0003005 [] synonym: "systemic mastocytosis with an associated hematological neoplasm" EXACT [NCIT:C9284] synonym: "systemic mastocytosis with an associated hematological neoplasm (SM-AHN)" EXACT [NCIT:C9284] synonym: "systemic mastocytosis with associated clonal haematological non-mast cell lineage disease" EXACT OMO:0003005 [] synonym: "systemic mastocytosis with associated clonal haematological non-mast cell lineage disease" EXACT [DOID:4797] synonym: "systemic mastocytosis with associated clonal haematological non-mast-cell lineage disease" EXACT OMO:0003005 [] synonym: "systemic mastocytosis with associated clonal hematological non-mast cell lineage disease" EXACT [DOID:4797] synonym: "systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease" EXACT [NCIT:C9284] synonym: "systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease" EXACT [DOID:4797] synonym: "systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease (morphologic abnormality)" EXACT [DOID:4797] synonym: "systemic mastocytosis with associated hematologic neoplasm" EXACT [Orphanet:98849] xref: DOID:4797 {source="MONDO:equivalentTo"} xref: EFO:1000559 {source="MONDO:equivalentTo"} xref: ICD10:C96.2 {source="ORDO:98849/ntbt", source="Orphanet:98849"} xref: ICDO:9741/3 {source="NCIT:C9284"} xref: MONDO:0020332 xref: NCIT:C9284 {source="DOID:4797", source="MONDO:equivalentTo", source="EFO:1000559"} xref: ONCOTREE:SMAHN {source="MONDO:equivalentTo"} xref: Orphanet:98849 {source="MONDO:equivalentTo"} xref: SCTID:397015000 {source="DOID:4797", source="MONDO:equivalentTo"} is_a: MONDO:0016586 {source="Orphanet:98849"} ! systemic mastocytosis property_value: closeMatch http://identifiers.org/snomedct/397357000 property_value: exactMatch DOID:4797 property_value: exactMatch DOID:4797 property_value: exactMatch http://identifiers.org/snomedct/397015000 property_value: exactMatch http://identifiers.org/snomedct/397015000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1301365 property_value: exactMatch NCIT:C9284 property_value: exactMatch NCIT:C9284 property_value: exactMatch Orphanet:98849 [Term] id: EFO:1000560 name: T-Cell Prolymphocytic Leukemia def: "A slow-growing type of leukemia (blood cancer) in which too many lymphocytes are found in the bone marrow and/or blood. The T-cell is specified as the defective cell line." [NCIT:C70649] subset: ordo_disease {source="Orphanet:86871"} synonym: "chronic T-cell leukaemia" NARROW OMO:0003005 [] synonym: "chronic T-cell leukemia" EXACT [NCIT:C70649] synonym: "chronic T-cell leukemia" NARROW DEPRECATED [NCIT:C70649] synonym: "chronic T-cell lymphocytic leukaemia" NARROW OMO:0003005 [] synonym: "chronic T-cell lymphocytic leukemia" EXACT [NCIT:C70649] synonym: "chronic T-cell lymphocytic leukemia" NARROW DEPRECATED [NCIT:C70649] synonym: "CLL, T-cell" EXACT [NCIT:C70649] synonym: "leukemia, T-cell, chronic" RELATED [GARD:0008224] synonym: "T cell chronic lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "T cell chronic lymphocytic leukemia" EXACT [NCIT:C70649] synonym: "T cell CLL" EXACT [NCIT:C70649] synonym: "T cell prolymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "T cell prolymphocytic leukemia" EXACT [NCIT:C4752] synonym: "T prolymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "T prolymphocytic leukemia" EXACT [NCIT:C4752] synonym: "T-cell chronic lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "T-cell chronic lymphocytic leukemia" EXACT [Orphanet:86871] synonym: "T-cell CLL" EXACT [NCIT:C70649] synonym: "T-cell prolymphocytic leukemia" EXACT [] {comment="preferred label from MONDO"} synonym: "T-cell prolymphocytic leukemia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "T-cell prolymphocytic leukemia" EXACT [MONDO:0006441, NCIT:C4752] synonym: "T-PLL" EXACT [Orphanet:86871] synonym: "TPLL" RELATED ABBREVIATION [ONCOTREE:TPLL] xref: DOID:0081042 {source="MONDO:equivalentTo"} xref: EFO:1000560 {source="MONDO:equivalentTo"} xref: GARD:0008224 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: ICD10:C91.6 {source="Orphanet:86871", source="ORDO:86871/e"} xref: ICDO:9834/3 {source="NCIT:C4752"} xref: MedDRA:10042985 {source="Orphanet:86871", source="ORDO:86871/e"} xref: MedDRA:10042985 {source="Orphanet:86871", source="Orphanet:86871/e"} xref: MESH:D015461 {source="Orphanet:86871", source="MONDO:equivalentTo", source="Orphanet:86871/e"} xref: MESH:D015461 {source="Orphanet:86871", source="MONDO:equivalentTo", source="ORDO:86871/e"} xref: MONDO:0019468 xref: NCIT:C4752 {source="EFO:1000560", source="MONDO:equivalentTo"} xref: NCIT:C70649 {source="MONDO:equivalentObsolete"} xref: NCIT:C70649 {source="MONDO:equivalentTo"} xref: ONCOTREE:TPLL {source="MONDO:equivalentTo"} xref: Orphanet:86871 {source="MONDO:equivalentTo"} xref: SCTID:277545003 {source="MONDO:equivalentTo"} xref: SCTID:277567002 {source="MONDO:equivalentTo"} xref: UMLS:C0023494 {source="Orphanet:86871", source="MONDO:equivalentTo", source="NCIT:C70649"} xref: UMLS:C2363142 {source="Orphanet:86871", source="MONDO:equivalentTo", source="Orphanet:86871/e", source="NCIT:C4752"} xref: UMLS:C2363142 {source="Orphanet:86871", source="MONDO:equivalentTo", source="NCIT:C4752", source="ORDO:86871/e"} is_a: EFO:0000209 ! T-cell acute lymphoblastic leukemia is_a: MONDO:0000430 ! mature T-cell and NK-cell non-Hodgkin lymphoma is_a: MONDO:0001023 {source="MESH:D015461", source="NCIT:C4752"} ! prolymphocytic leukemia is_a: MONDO:0003537 ! precursor T-lymphoblastic lymphoma/leukemia is_a: MONDO:0003540 ! acute T cell leukemia relationship: EFO:0000784 CL:0000084 ! has_disease_location T cell property_value: closeMatch http://identifiers.org/meddra/10042985 property_value: exactMatch DOID:0081042 property_value: exactMatch http://identifiers.org/meddra/10042985 property_value: exactMatch http://identifiers.org/mesh/D015461 property_value: exactMatch http://identifiers.org/mesh/D015461 property_value: exactMatch http://identifiers.org/snomedct/277545003 property_value: exactMatch http://identifiers.org/snomedct/277545003 property_value: exactMatch http://identifiers.org/snomedct/277567002 property_value: exactMatch http://identifiers.org/snomedct/277567002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023494 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023494 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2363142 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2363142 property_value: exactMatch NCIT:C4752 property_value: exactMatch NCIT:C4752 property_value: exactMatch NCIT:C70649 property_value: exactMatch Orphanet:86871 [Term] id: EFO:1000561 name: Tendon Sheath Fibroma def: "A small, slow growing, benign neoplasm arising from the tendon sheaths. The tumor is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation." [NCIT:C6485] synonym: "fibroma of tendon sheath" EXACT [NCIT:C6485] synonym: "fibroma of the tendon sheath" EXACT [NCIT:C6485] synonym: "tendon sheath fibroma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "tendon sheath fibroma" EXACT [] {comment="preferred label from MONDO"} synonym: "tendon sheath fibroma" EXACT [MONDO:patterns/location, NCIT:C6485] xref: EFO:1000561 {source="MONDO:equivalentTo"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MONDO:0006442 xref: NCIT:C6485 {source="EFO:1000561", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C6485 {source="EFO:1000561", source="MONDO:equivalentTo", source="exact-label-match"} xref: SCTID:403992002 {source="MONDO:equivalentTo"} xref: UMLS:C1275236 {source="NCIT:C6485", source="MONDO:equivalentTo"} is_a: EFO:0002424 {source="EFO:1000561", source="MONDO:Redundant", source="NCIT:C6485"} ! fibroma is_a: MONDO:0024876 ! tendon sheath disorder property_value: exactMatch http://identifiers.org/snomedct/403992002 property_value: exactMatch http://identifiers.org/snomedct/403992002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275236 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275236 property_value: exactMatch NCIT:C6485 property_value: exactMatch NCIT:C6485 [Term] id: EFO:1000562 name: Tenosynovial Giant Cell Tumor def: "A tumor usually arising in the synovium of joints, bursa or tendon sheath. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. According to the growth pattern, it is classified as localized or diffuse." [NCIT:C3402] synonym: "fibrous histiocytoma of tendon sheath" EXACT [NCIT:C3402] synonym: "giant cell neoplasm of tendon sheath" EXACT [NCIT:C3402] synonym: "giant cell neoplasm of Tenosynovium" EXACT [NCIT:C3402] synonym: "giant cell neoplasm of the Tenosynovium" EXACT [NCIT:C3402] synonym: "giant cell tumor of tendon sheath" EXACT [DOID:314, ICD9CM_2006:727.02, NCIT:C3402] synonym: "giant cell tumor of tendon sheath" EXACT [DOID:314, ICD9CM:727.02, NCIT:C3402] synonym: "giant cell tumor of Tenosynovium" EXACT [DOID:314, NCIT:C3402] synonym: "giant cell tumor of the Tenosynovium" EXACT [NCIT:C3402] synonym: "giant cell tumour of tendon sheath" EXACT OMO:0003005 [] synonym: "giant cell tumour of Tenosynovium" EXACT OMO:0003005 [] synonym: "giant cell tumour of the Tenosynovium" EXACT OMO:0003005 [] synonym: "tendon sheath giant cell neoplasm" EXACT [NCIT:C3402] synonym: "tendon sheath giant cell tumor" EXACT [MONDO:patterns/location, NCIT:C3402] synonym: "tendon sheath giant cell tumour" EXACT OMO:0003005 [] synonym: "tenosynovial giant cell neoplasm" EXACT [NCIT:C3402] synonym: "tenosynovial giant cell tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "tenosynovial giant cell tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "tenosynovial giant cell tumor" EXACT [MONDO:0006443, NCIT:C3402] xref: DOID:314 {source="MONDO:equivalentTo"} xref: EFO:1000562 {source="MONDO:equivalentTo"} xref: ICD9:727.02 {source="DOID:314", source="MONDO:superClassOf"} xref: ICD9:727.02 {source="DOID:314"} xref: ICD9:727.89 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:727.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9252/0 {source="NCIT:C3402"} xref: MONDO:0002522 xref: NCIT:C3402 {source="DOID:314", source="EFO:1000562", source="MONDO:equivalentTo"} xref: SCTID:310605004 {source="DOID:314", source="MONDO:equivalentTo"} xref: SCTID:95412009 {source="DOID:314", source="MONDO:relatedTo"} xref: UMLS:C1318543 {source="DOID:314", source="MONDO:equivalentTo", source="NCIT:C3402"} is_a: MONDO:0002171 {source="DOID:314", source="MONDO:Redundant", source="NCIT:C3402"} ! giant cell tumor is_a: MONDO:0002528 {source="NCIT:C3402"} ! synovium neoplasm is_a: MONDO:0021581 ! connective tissue neoplasm is_a: MONDO:0024876 ! tendon sheath disorder property_value: closeMatch http://identifiers.org/snomedct/128777004 property_value: closeMatch http://identifiers.org/snomedct/71508003 property_value: exactMatch DOID:314 property_value: exactMatch DOID:314 property_value: exactMatch http://identifiers.org/snomedct/310605004 property_value: exactMatch http://identifiers.org/snomedct/310605004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1318543 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1318543 property_value: exactMatch NCIT:C3402 property_value: exactMatch NCIT:C3402 [Term] id: EFO:1000563 name: Teratoma with Malignant Transformation def: "A teratoma which is characterized by morphologic transformation to malignancy and an aggressive clinical course. The malignant component most often is sarcomatous or carcinomatous." [NCIT:C4289] subset: gard_rare {source="GARD:0010646"} synonym: "dermoid cyst with malignant transformation" EXACT [NCIT:C4289] synonym: "teratoma with malignant transformation" EXACT [] {comment="preferred label from MONDO"} synonym: "teratoma with malignant transformation" EXACT [NCIT:C4289] synonym: "teratoma with malignant transformation" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "TMT" RELATED ABBREVIATION [ONCOTREE:TMT] xref: DOID:0081246 {source="MONDO:equivalentTo"} xref: EFO:1000563 {source="MONDO:equivalentTo"} xref: GARD:0010646 {source="MONDO:equivalentTo"} xref: ICDO:9084/3 {source="NCIT:C4289"} xref: MONDO:0006444 xref: NCIT:C4289 {source="MONDO:equivalentTo", source="EFO:1000563", source="MONDO:exact-label-match"} xref: NCIT:C4289 {source="MONDO:equivalentTo", source="EFO:1000563", source="exact-label-match"} xref: ONCOTREE:TMT {source="MONDO:equivalentTo"} xref: UMLS:C0334523 {source="MONDO:equivalentTo", source="NCIT:C4289"} is_a: MONDO:0002601 {source="NCIT:C4289"} ! teratoma property_value: exactMatch DOID:0081246 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334523 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334523 property_value: exactMatch NCIT:C4289 property_value: exactMatch NCIT:C4289 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10646/teratoma-with-malignant-transformation xsd:anyURI {source="GARD:0010646"} [Term] id: EFO:1000564 name: Testicular Choriocarcinoma def: "A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts." [NCIT:P378] synonym: "choriocarcinoma" RELATED [ONCOTREE:TCCA] synonym: "choriocarcinoma of testis" EXACT [NCIT:C7733] synonym: "choriocarcinoma of testis" EXACT [] {comment="preferred label from MONDO"} synonym: "choriocarcinoma of testis" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "choriocarcinoma of the testis" EXACT [NCIT:C7733] synonym: "testicular choriocarcinoma" EXACT [DOID:5551, MONDO:0006445, NCIT:C7733] synonym: "testis choriocarcinoma (disease)" EXACT [MONDO:patterns/location] xref: DOID:5551 {source="MONDO:equivalentTo"} xref: EFO:1000564 {source="MONDO:equivalentTo"} xref: MONDO:0003508 xref: NCIT:C7733 {source="EFO:1000564", source="MONDO:equivalentTo", source="DOID:5551"} xref: ONCOTREE:TCCA {source="MONDO:equivalentTo"} xref: UMLS:C0238449 {source="MONDO:equivalentTo", source="NCIT:C7733", source="DOID:5551"} is_a: EFO:0002893 {source="DOID:5551", source="EFO:1000564", source="MONDO:Redundant", source="NCIT:C7733"} ! choriocarcinoma is_a: MONDO:0002871 {source="MONDO:Redundant", source="NCIT:C7733"} ! testicular trophoblastic tumor is_a: MONDO:0003403 {source="MONDO:Entailed", source="NCIT:C7733"} ! testicular non-seminomatous germ cell cancer property_value: closeMatch http://identifiers.org/snomedct/147371000119101 property_value: exactMatch DOID:5551 property_value: exactMatch DOID:5551 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238449 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238449 property_value: exactMatch NCIT:C7733 property_value: exactMatch NCIT:C7733 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql [Term] id: EFO:1000565 name: Testicular Embryonal Carcinoma def: "A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent." [NCIT:C6341] synonym: "embryonal carcinoma of testis" EXACT [DOID:5680, NCIT:C6341] synonym: "embryonal carcinoma of the testis" EXACT [DOID:5680, NCIT:C6341] synonym: "embryonal testis carcinoma" EXACT [MONDO:0003580] synonym: "testicular embryonal carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "testicular embryonal carcinoma" EXACT [DOID:5680, NCIT:C6341] synonym: "testicular embryonal carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "testis embryonal carcinoma" EXACT [MONDO:patterns/location] xref: DOID:5680 {source="MONDO:equivalentTo"} xref: EFO:1000565 {source="MONDO:equivalentTo"} xref: MONDO:0006446 xref: NCIT:C6341 {source="MONDO:equivalentTo", source="EFO:1000565", source="DOID:5680"} xref: UMLS:C0238448 {source="NCIT:C6341", source="MONDO:equivalentTo", source="DOID:5680"} is_a: EFO:0004986 {source="DOID:5680", source="MONDO:Redundant", source="NCIT:C6341"} ! embryonal carcinoma is_a: EFO:0005784 {source="DOID:5680/inferred", source="EFO:1000565"} ! embryonal neoplasm is_a: MONDO:0002874 {source="NCIT:C6341"} ! testicular pure germ cell tumor is_a: MONDO:0003403 {source="NCIT:C6341"} ! testicular non-seminomatous germ cell cancer property_value: exactMatch DOID:5680 property_value: exactMatch DOID:5680 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238448 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238448 property_value: exactMatch NCIT:C6341 property_value: exactMatch NCIT:C6341 [Term] id: EFO:1000566 name: Testicular Germ Cell Tumor def: "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." [NCIT:C8591] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:363504"} synonym: "embryonal cell carcinoma" RELATED [OMIM:273300] synonym: "endodermal sinus tumor" RELATED [OMIM:273300] synonym: "endodermal sinus tumour" RELATED OMO:0003005 [] synonym: "germ cell neoplasm of testis" EXACT [NCIT:C8591] synonym: "germ cell neoplasm of the testis" EXACT [NCIT:C8591] synonym: "germ cell tumor of testis" EXACT [DOID:5557, MONDO:0018196, NCIT:C8591] synonym: "germ cell tumor of the testis" EXACT [NCIT:C8591] synonym: "germ cell tumors, somatic" EXACT [OMIM:273300, OMIM:genemap2] synonym: "germ cell tumour of testis" EXACT OMO:0003005 [] synonym: "germ cell tumour of the testis" EXACT OMO:0003005 [] synonym: "Male germ cell tumor" RELATED [OMIM:273300] synonym: "male germ cell tumor, somatic" EXACT [OMIM:273300, OMIM:genemap2] synonym: "Male germ cell tumour" RELATED OMO:0003005 [] synonym: "nonseminomatous germ cell tumors" RELATED [OMIM:273300] synonym: "nonseminomatous germ cell tumours" RELATED OMO:0003005 [] synonym: "seminoma" RELATED [OMIM:273300] synonym: "spermatocytic seminoma" RELATED [OMIM:273300] synonym: "spermatocytic seminoma, somatic" EXACT [OMIM:273300, OMIM:genemap2] synonym: "teratoma, testicular" RELATED [OMIM:273300] synonym: "testicular germ cell cancer" RELATED [DOID:5557] synonym: "testicular germ cell neoplasm" EXACT [DOID:5557, NCIT:C8591] synonym: "testicular germ cell neoplasms" EXACT [NCIT:C8591] synonym: "testicular germ cell tumor" EXACT [MONDO:Lexical, NCIT:C8591, OMIM:273300, Orphanet:363504] synonym: "testicular germ cell tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "testicular germ cell tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "testicular tumor, somatic" EXACT [OMIM:273300, OMIM:genemap2] synonym: "testis germ cell tumor" EXACT [MONDO:patterns/location] synonym: "testis germ cell tumour" EXACT OMO:0003005 [] synonym: "TGCT" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C8591, OMIM:273300] xref: DOID:5557 {source="MONDO:equivalentTo"} xref: EFO:1000566 {source="MONDO:equivalentTo"} xref: GARD:0013047 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10:C62.1 {source="ORDO:363504/ntbt", source="Orphanet:363504"} xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:239.5 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C563236 {source="DOID:5557", source="MONDO:equivalentTo"} xref: MONDO:0010108 xref: NCIT:C8591 {source="DesignPattern", source="DOID:5557", source="MONDO:equivalentTo"} xref: NCIT:C8591 {source="DOID:5557", source="MONDO:equivalentTo"} xref: OMIM:273300 {source="DOID:5557", source="MONDO:equivalentTo", source="MONDO:superClassOf", source="EFO:1000566", source="Orphanet:363504", source="ORDO:363504/e"} xref: OMIM:273300 {source="Orphanet:363504/e", source="DOID:5557", source="MONDO:equivalentTo", source="EFO:1000566", source="Orphanet:363504"} xref: Orphanet:363504 {source="MONDO:subClassOf", source="MONDO:equivalentTo", source="OMIM:273300"} xref: Orphanet:363504 {source="MONDO:equivalentTo", source="OMIM:273300"} xref: Orphanet:876 {source="MONDO:directSiblingOf", source="OMIM:273300"} xref: SCTID:713577007 {source="DOID:5557", source="MONDO:equivalentTo"} xref: SCTID:713577007 {source="DesignPattern", source="DOID:5557", source="MONDO:equivalentTo"} xref: UMLS:C0014145 {source="MONDO:directSiblingOf", source="OMIM:273300"} xref: UMLS:C1336708 {source="DOID:5557", source="MONDO:equivalentTo", source="Orphanet:363504", source="NCIT:C8591", source="OMIM:273300"} is_a: MONDO:0018191 {source="Orphanet:363504"} ! tumor of testis and paratestis is_a: MONDO:0018202 {source="Orphanet:363504"} ! gonadal germ cell tumor is_a: MONDO:0021348 {source="EFO:1000566", source="MONDO:Redundant", source="NCIT:C8591"} ! neoplasm of testis property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0036631 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153594 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0238451 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1266158 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3463918 property_value: exactMatch DOID:5557 property_value: exactMatch DOID:5557 property_value: exactMatch http://identifiers.org/mesh/C563236 property_value: exactMatch http://identifiers.org/mesh/C563236 property_value: exactMatch http://identifiers.org/omim/273300 property_value: exactMatch http://identifiers.org/snomedct/713577007 property_value: exactMatch http://identifiers.org/snomedct/713577007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336708 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336708 property_value: exactMatch https://omim.org/entry/273300 property_value: exactMatch NCIT:C8591 property_value: exactMatch NCIT:C8591 property_value: exactMatch Orphanet:363504 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: EFO:1000567 name: Testicular Granulosa Cell Tumor def: "A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile." [] xref: NCIt:C6357 is_a: EFO:0004281 ! testicular neoplasm is_a: EFO:0009601 ! testicular disease [Term] id: EFO:1000568 name: Testicular Large Cell Calcifying Sertoli Cell Tumor def: "A testicular Sertoli cell tumor characterized by the presence of large polygonal cells with eosinophilic cytoplasm in a myxoid and hyalinized stroma. Calcifications may be present in the stroma." [] xref: NCIt:C39944 is_a: EFO:0004281 ! testicular neoplasm is_a: EFO:0009601 ! testicular disease [Term] id: EFO:1000569 name: Testicular Leydig Cell Tumor def: "A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics." [] xref: NCIt:C6356 is_a: EFO:0004281 ! testicular neoplasm is_a: EFO:0009601 ! testicular disease [Term] id: EFO:1000570 name: Testicular Non-Seminomatous Germ Cell Tumor def: "A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms." [NCIT:C9313] subset: ordo_disease {source="Orphanet:363494"} synonym: "non-dysgerminomatous germ cell tumor of testis" EXACT [Orphanet:363494] synonym: "non-dysgerminomatous germ cell tumour of testis" EXACT OMO:0003005 [] synonym: "non-seminomatous germ cell tumor of testis" EXACT [MONDO:0018195] synonym: "non-seminomatous germ cell tumour of testis" EXACT OMO:0003005 [] synonym: "testicular germ cell tumor non-seminomatous" EXACT [MONDO:0002873, NCIT:C9313] synonym: "testicular germ cell tumour non-seminomatous" EXACT OMO:0003005 [] synonym: "testicular non seminomatous germ cell tumor" EXACT [Orphanet:363494] synonym: "testicular non seminomatous germ cell tumour" EXACT OMO:0003005 [] synonym: "testicular non-dysgerminomatous germ cell tumor" EXACT [Orphanet:363494] synonym: "testicular non-dysgerminomatous germ cell tumour" EXACT OMO:0003005 [] synonym: "testicular non-seminomatous germ cell tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "testicular non-seminomatous germ cell tumor" EXACT [NCIT:C9313] synonym: "testicular non-seminomatous germ cell tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: DOID:4086 {source="MONDO:equivalentTo"} xref: EFO:1000570 {source="MONDO:equivalentTo"} xref: ICD10:C62.1 {source="Orphanet:363494", source="ORDO:363494/ntbt"} xref: ICDO:9065/3 {source="NCIT:C9313"} xref: MONDO:0006447 xref: NCIT:C9313 {source="EFO:1000570", source="MONDO:equivalentTo"} xref: Orphanet:363494 {source="MONDO:equivalentTo"} xref: UMLS:C1336724 {source="NCIT:C9313", source="MONDO:equivalentTo", source="DOID:4086"} xref: UMLS:CN204702 {source="MONDO:equivalentTo"} is_a: EFO:1000566 {source="DOID:4086", source="NCIT:C9313", source="Orphanet:363494"} ! Testicular Germ Cell Tumor property_value: exactMatch DOID:4086 property_value: exactMatch DOID:4086 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336724 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336724 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204702 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204702 property_value: exactMatch NCIT:C9313 property_value: exactMatch NCIT:C9313 property_value: exactMatch Orphanet:363494 [Term] id: EFO:1000571 name: Testicular Sclerosing Sertoli Cell Tumor def: "A rare testicular Sertoli cell tumor characterized by the presence of neoplastic tubules that are surrounded by a dense fibrotic stroma." [] xref: NCIt:C39945 is_a: EFO:0004281 ! testicular neoplasm is_a: EFO:0009601 ! testicular disease [Term] id: EFO:1000572 name: Testicular Sertoli Cell Tumor def: "A sex cord-stromal tumor that arises from the testis and is characterized by the presence of neoplastic cells with features of Sertoli cells. It usually presents as a slow growing testicular mass. The vast majority of cases follow a benign clinical course." [] xref: NCIt:C4672 is_a: EFO:0004281 ! testicular neoplasm is_a: EFO:0009601 ! testicular disease [Term] id: EFO:1000573 name: Testicular Teratoma subset: ordo_disease {source="Orphanet:363483"} synonym: "teratoma of testis" EXACT [NCIT:C3877] synonym: "teratoma of the testis" EXACT [NCIT:C3877, Orphanet:363483] synonym: "testicular teratoma" EXACT [] {comment="preferred label from MONDO"} synonym: "testicular teratoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "testicular teratoma" EXACT [MONDO:ambiguous] synonym: "testicular teratoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: EFO:1000573 {source="MONDO:equivalentTo"} xref: HP:0100616 {source="MONDO:otherHierarchy"} xref: ICD10:C62.9 {source="Orphanet:363483", source="ORDO:363483/ntbt"} xref: MONDO:0018193 xref: NCIT:C3877 {source="EFO:1000573", source="MONDO:equivalentTo"} xref: Orphanet:363483 {source="MONDO:equivalentTo"} is_a: EFO:1000566 {source="NCIT:C3877"} ! Testicular Germ Cell Tumor property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0238451 property_value: exactMatch NCIT:C3877 property_value: exactMatch NCIT:C3877 property_value: exactMatch Orphanet:363483 property_value: IAO:0000589 "testicular teratoma (disease)" xsd:string [Term] id: EFO:1000574 name: Testicular Yolk Sac Tumor def: "A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation." [NCIT:C8000] subset: gard_rare synonym: "endodermal sinus neoplasm of testis" RELATED [NCIT:C8000] synonym: "endodermal sinus neoplasm of the testis" RELATED [NCIT:C8000] synonym: "endodermal sinus tumor of testis" RELATED [NCIT:C8000] synonym: "endodermal sinus tumor of the testis" RELATED [NCIT:C8000] synonym: "endodermal sinus tumour of testis" RELATED OMO:0003005 [] synonym: "endodermal sinus tumour of the testis" RELATED OMO:0003005 [] synonym: "endodermal-sinus tumor" RELATED [GARD:0000348] synonym: "endodermal-sinus tumour" RELATED OMO:0003005 [] synonym: "Orchidoblastoma" RELATED [GARD:0000348] synonym: "testicular endodermal sinus neoplasm" RELATED [NCIT:C8000] synonym: "testicular endodermal sinus tumor" RELATED [NCIT:C8000] synonym: "testicular endodermal sinus tumour" RELATED OMO:0003005 [] synonym: "testicular yolk Sac neoplasm" EXACT [DOID:5344, NCIT:C8000] synonym: "testicular yolk sac tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "testicular yolk sac tumor" EXACT [MONDO:0006449, NCIT:C8000] synonym: "testicular yolk sac tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "testis yolk sac tumor" EXACT [MONDO:patterns/location] synonym: "testis yolk sac tumour" EXACT OMO:0003005 [] synonym: "yolk Sac neoplasm of testis" RELATED [NCIT:C8000] synonym: "yolk Sac neoplasm of the testis" RELATED [NCIT:C8000] synonym: "yolk sac tumor" RELATED [ONCOTREE:TYST] synonym: "yolk Sac tumor of testis" RELATED [NCIT:C8000] synonym: "yolk Sac tumor of the testis" RELATED [NCIT:C8000] synonym: "yolk sac tumour" RELATED OMO:0003005 [] synonym: "yolk Sac tumour of testis" RELATED OMO:0003005 [] synonym: "yolk Sac tumour of the testis" RELATED OMO:0003005 [] xref: DOID:5344 {source="MONDO:equivalentTo"} xref: EFO:1000574 {source="MONDO:equivalentTo"} xref: GARD:0000348 {source="MONDO:equivalentTo"} xref: MONDO:0003402 xref: NCIT:C8000 {source="DOID:5344", source="NCIT:C8000", source="MONDO:equivalentTo", source="EFO:1000574"} xref: ONCOTREE:TYST {source="MONDO:equivalentTo"} xref: UMLS:C0279708 {source="DOID:5344", source="NCIT:C8000", source="MONDO:equivalentTo"} is_a: EFO:0007252 {source="MONDO:Redundant", source="NCIT:C8000"} ! endodermal sinus tumor is_a: MONDO:0002874 {source="NCIT:C8000"} ! testicular pure germ cell tumor is_a: MONDO:0003403 {source="DOID:5344", source="NCIT:C8000"} ! testicular non-seminomatous germ cell cancer property_value: exactMatch DOID:5344 property_value: exactMatch DOID:5344 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279708 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279708 property_value: exactMatch NCIT:C8000 property_value: exactMatch NCIT:C8000 [Term] id: EFO:1000575 name: Therapy-Related Myeloid Neoplasm def: "Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders." [NCIT:C27912] synonym: "acute myeloid Leukaemias and myelodysplastic syndromes, therapy-related" EXACT [NCIT:C27912] synonym: "therapy-related acute myeloid leukaemia and myelodysplastic syndrome" EXACT OMO:0003005 [] synonym: "therapy-related acute myeloid leukemia and myelodysplastic syndrome" EXACT [NCIT:C27912] synonym: "therapy-related AML and MDS" EXACT [NCIT:C27912] synonym: "therapy-related myeloid neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "therapy-related myeloid neoplasm" EXACT [NCIT:C27912] synonym: "therapy-related myeloid neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "therapy-related myeloid neoplasms" RELATED [ONCOTREE:TMN] synonym: "TMN" RELATED ABBREVIATION [ONCOTREE:TMN] xref: EFO:1000575 {source="MONDO:equivalentTo"} xref: ICDO:9920/3 {source="NCIT:C27912"} xref: MONDO:0006450 xref: NCIT:C27912 {source="EFO:1000575", source="MONDO:equivalentTo"} xref: ONCOTREE:TMN {source="MONDO:equivalentTo"} is_a: EFO:0002428 ! chronic myeloproliferative disorder is_a: EFO:0004251 ! myeloproliferative disorder is_a: MONDO:0023603 ! hereditary disorder of connective tissue property_value: exactMatch NCIT:C27912 property_value: exactMatch NCIT:C27912 [Term] id: EFO:1000576 name: Thymic Carcinoma def: "Thymic carcinoma (TC) is a type of thymic epithelial neoplasm characterized by a high malignant potential." [Orphanet:99868] subset: ordo_disease {source="Orphanet:99868"} synonym: "carcinoma of thymus" EXACT [MONDO:patterns/carcinoma] synonym: "malignant thymoma" EXACT [DOID:3284, NCIT:C7612, Orphanet:99868] synonym: "THYC" RELATED ABBREVIATION [ONCOTREE:THYC] synonym: "thymic carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "thymic carcinoma" EXACT [DOID:3284, NCIT:C7569] synonym: "thymic carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "thymic carcinoma (excluding well differentiated thymic carcinoma)" EXACT [NCIT:C7569] synonym: "thymic carcinoma excluding well differentiated thymic carcinoma" EXACT [NCIT:C7569] synonym: "thymoma type C" EXACT DEPRECATED [NCIT:C7569] synonym: "thymoma, malignant" EXACT [DOID:3284] synonym: "thymoma, malignant (morphologic abnormality)" EXACT [DOID:3284] synonym: "thymoma, type C" EXACT [DOID:4554] synonym: "thymoma, type C (morphologic abnormality)" EXACT [DOID:4554] synonym: "thymus carcinoma" EXACT [MONDO:patterns/location] synonym: "type C thymoma" EXACT DEPRECATED [MONDO:0003048, NCIT:C7569] xref: DOID:3284 {source="MONDO:equivalentTo"} xref: DOID:4554 {source="MONDO:equivalentTo"} xref: EFO:1000576 {source="MONDO:equivalentTo"} xref: GARD:0011952 {source="MONDO:equivalentTo"} xref: ICD10:C37 {source="Orphanet:99868", source="ORDO:99868/ntbt"} xref: ICDO:8586/3 {source="NCIT:C7569"} xref: MedDRA:10061031 {source="Orphanet:99868", source="Orphanet:99868/e"} xref: MedDRA:10061031 {source="ORDO:99868/e", source="Orphanet:99868"} xref: MONDO:0006451 xref: NCIT:C7569 {source="DOID:4554", source="MONDO:equivalentTo", source="EFO:1000576"} xref: ONCOTREE:THYC {source="MONDO:equivalentTo"} xref: Orphanet:99868 {source="MONDO:equivalentTo"} xref: SCTID:444374006 {source="DOID:4554", source="MONDO:equivalentTo"} xref: UMLS:C0205969 {source="MONDO:equivalentTo", source="Orphanet:99868", source="NCIT:C7569", source="Orphanet:99868/e", source="DOID:3284"} xref: UMLS:C0205969 {source="ORDO:99868/e", source="MONDO:equivalentTo", source="Orphanet:99868", source="NCIT:C7569", source="DOID:3284"} xref: UMLS:C1322286 {source="DOID:4554", source="MONDO:equivalentTo", source="Orphanet:99868", source="Orphanet:99868/e"} xref: UMLS:C1322286 {source="DOID:4554", source="ORDO:99868/e", source="MONDO:equivalentTo", source="Orphanet:99868"} xref: UMLS:CN207411 {source="MONDO:equivalentTo"} is_a: EFO:0000313 {source="EFO:1000576", source="MONDO:Redundant"} ! carcinoma is_a: MONDO:0002586 {source="DOID:3284", source="DOID:4554/inferred", source="MONDO:Redundant", source="NCIT:C7569"} ! thymus cancer is_a: MONDO:0018079 {source="MONDO:Redundant", source="NCIT:C7569", source="ONCOTREE:THYC", source="Orphanet:99868"} ! thymic epithelial neoplasm property_value: closeMatch http://identifiers.org/meddra/10061031 property_value: closeMatch http://identifiers.org/snomedct/128717008 property_value: closeMatch http://identifiers.org/snomedct/15949004 property_value: closeMatch http://identifiers.org/snomedct/444596001 property_value: closeMatch NCIT:C7612 property_value: exactMatch DOID:3284 property_value: exactMatch DOID:3284 property_value: exactMatch DOID:4554 property_value: exactMatch DOID:4554 property_value: exactMatch http://identifiers.org/meddra/10061031 property_value: exactMatch http://identifiers.org/snomedct/444374006 property_value: exactMatch http://identifiers.org/snomedct/444374006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205969 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205969 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1322286 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1322286 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207411 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207411 property_value: exactMatch NCIT:C7569 property_value: exactMatch NCIT:C7569 property_value: exactMatch Orphanet:99868 property_value: excluded_subClassOf MONDO:0006456 {source="DOID:4554"} property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:1000577 name: Thymic Sarcomatoid Carcinoma def: "A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma." [NCIT:C6463] synonym: "sarcomatoid carcinoma of the Thymus" EXACT [NCIT:C6463] synonym: "sarcomatoid carcinoma of Thymus" EXACT [NCIT:C6463] synonym: "thymic carcinosarcoma" EXACT [DOID:8138, NCIT:C6463] synonym: "thymic sarcomatoid carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "thymic sarcomatoid carcinoma" EXACT [NCIT:C6463] synonym: "thymic sarcomatoid carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "thymic spindle cell carcinoma" EXACT [NCIT:C6463] synonym: "Thymus sarcomatoid carcinoma" EXACT [NCIT:C6463] synonym: "thymus sarcomatoid carcinoma" EXACT [MONDO:0004476, MONDO:patterns/location] xref: DOID:8138 {source="MONDO:equivalentTo"} xref: EFO:1000577 {source="MONDO:equivalentTo"} xref: MONDO:0006452 xref: NCIT:C6463 {source="DOID:8138", source="DesignPattern", source="MONDO:equivalentTo", source="EFO:1000577"} xref: NCIT:C6463 {source="DOID:8138", source="MONDO:equivalentTo", source="EFO:1000577"} xref: UMLS:C1335924 {source="DOID:8138", source="NCIT:C6463", source="MONDO:equivalentTo"} is_a: EFO:1000520 {source="DOID:8138", source="MONDO:Redundant", source="NCIT:C6463"} ! Sarcomatoid Carcinoma is_a: EFO:1000576 {source="DOID:8138/inferred", source="MONDO:Redundant", source="NCIT:C6463"} ! Thymic Carcinoma property_value: exactMatch DOID:8138 property_value: exactMatch DOID:8138 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335924 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335924 property_value: exactMatch NCIT:C6463 property_value: exactMatch NCIT:C6463 property_value: excluded_subClassOf MONDO:0003493 {source="DOID:8138"} [Term] id: EFO:1000578 name: Thymic Small Cell Carcinoma def: "An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies." [NCIT:P378] synonym: "small cell carcinoma of the Thymus" EXACT [DOID:7142, NCIT:C6460] synonym: "small cell carcinoma of Thymus" EXACT [NCIT:C6460] synonym: "small cell carcinoma of thymus" EXACT [] synonym: "thymic small cell carcinoma" EXACT [MONDO:0006453, NCIT:C6460] synonym: "thymic small cell carcinoma neuroendocrine type" EXACT [NCIT:C6460] synonym: "Thymus small cell carcinoma" EXACT [NCIT:C6460] synonym: "thymus small cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "thymus small cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "thymus small cell carcinoma" EXACT [MONDO:patterns/location] xref: DOID:7142 {source="MONDO:equivalentTo"} xref: EFO:1000578 {source="MONDO:equivalentTo"} xref: MONDO:0004122 xref: NCIT:C6460 {source="MONDO:equivalentTo", source="DOID:7142", source="EFO:1000578"} xref: UMLS:C1335980 {source="NCIT:C6460", source="MONDO:equivalentTo", source="DOID:7142"} is_a: EFO:0008524 {source="DOID:7142", source="MONDO:Redundant", source="NCIT:C6460"} ! small cell carcinoma is_a: MONDO:0020516 ! thymic neuroendocrine carcinoma property_value: exactMatch DOID:7142 property_value: exactMatch DOID:7142 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335980 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335980 property_value: exactMatch NCIT:C6460 property_value: exactMatch NCIT:C6460 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/small_cell_carcinoma.yaml [Term] id: EFO:1000579 name: Thymic Squamous Cell Carcinoma def: "A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation." [NCIT:C6455] synonym: "epidermoid thymic carcinoma" EXACT [DOID:5530, NCIT:C6455] synonym: "squamous cell carcinoma of the Thymus" EXACT [NCIT:C6455] synonym: "squamous cell carcinoma of Thymus" EXACT [NCIT:C6455] synonym: "thymic squamous cell carcinoma" EXACT [MONDO:0006454, NCIT:C6455] synonym: "Thymus squamous cell carcinoma" EXACT [NCIT:C6455] synonym: "thymus squamous cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "thymus squamous cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "thymus squamous cell carcinoma" EXACT [MONDO:patterns/location] xref: DOID:5530 {source="MONDO:equivalentTo"} xref: EFO:1000579 {source="MONDO:equivalentTo"} xref: MONDO:0003493 xref: NCIT:C6455 {source="DOID:5530", source="MONDO:equivalentTo", source="EFO:1000579"} xref: UMLS:C1336082 {source="DOID:5530", source="MONDO:equivalentTo", source="NCIT:C6455"} is_a: EFO:0000707 {source="DOID:5530", source="EFO:1000579", source="MONDO:Redundant", source="NCIT:C6455"} ! squamous cell carcinoma is_a: EFO:1000576 {source="DOID:5530", source="MONDO:Redundant", source="NCIT:C6455"} ! Thymic Carcinoma property_value: exactMatch DOID:5530 property_value: exactMatch DOID:5530 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336082 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336082 property_value: exactMatch NCIT:C6455 property_value: exactMatch NCIT:C6455 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/squamous_cell_carcinoma.yaml [Term] id: EFO:1000580 name: Thymic Undifferentiated Carcinoma def: "A rare primary thymic carcinoma, characterized by an undifferentiated solid tumor growth, without associated sarcomatoid features." [NCIT:C35718] synonym: "thymic undifferentiated carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "thymic undifferentiated carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "thymic undifferentiated carcinoma" EXACT [NCIT:C35718] xref: EFO:1000580 {source="MONDO:equivalentTo"} xref: MONDO:0006455 xref: NCIT:C35718 {source="EFO:1000580", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C35718 {source="EFO:1000580", source="MONDO:equivalentTo", source="exact-label-match"} xref: UMLS:C1336865 {source="NCIT:C35718", source="MONDO:equivalentTo"} is_a: EFO:0006772 {source="EFO:1000580", source="MONDO:Redundant", source="NCIT:C35718"} ! undifferentiated carcinoma is_a: EFO:1000576 {source="MONDO:Redundant", source="NCIT:C35718"} ! Thymic Carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336865 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336865 property_value: exactMatch NCIT:C35718 property_value: exactMatch NCIT:C35718 [Term] id: EFO:1000581 name: Thymoma def: "A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course." [NCIT:C3411] subset: ordo_disease {source="Orphanet:99867"} synonym: "primary thymic epithelial neoplasm" EXACT [Orphanet:99867] synonym: "primary thymic epithelial tumor" EXACT [Orphanet:99867] synonym: "primary thymic epithelial tumour" EXACT OMO:0003005 [] synonym: "THYM" RELATED ABBREVIATION [ONCOTREE:THYM] synonym: "thymoma" EXACT [MONDO:ambiguous, NCIT:C3411] synonym: "thymoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "thymoma" EXACT [] {comment="preferred label from MONDO"} synonym: "thymoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:3275 {source="EFO:1000581", source="MONDO:equivalentTo"} xref: EFO:1000581 {source="MONDO:equivalentTo"} xref: HP:0100522 {source="MONDO:otherHierarchy"} xref: ICD10:D15.0 {source="MONDO:relatedTo", source="Orphanet:99867", source="ORDO:99867/ntbt"} xref: ICD10:D38.4 {source="Orphanet:99867", source="ORDO:99867/btnt"} xref: ICD10CM:D15.0 {source="Orphanet:99867/ntbt", source="MONDO:relatedTo", source="Orphanet:99867"} xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:239.89 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:8580/1 {source="NCIT:C3411"} xref: MedDRA:10043670 {source="ORDO:99867/e", source="Orphanet:99867"} xref: MedDRA:10043670 {source="Orphanet:99867", source="Orphanet:99867/e"} xref: MESH:D013945 {source="https://orcid.org/0000-0003-1967-3726", source="DOID:3275", source="Orphanet:99867", source="MONDO:equivalentTo", source="Orphanet:99867/e"} xref: MONDO:0006456 xref: NCIT:C3411 {source="DOID:3275", source="EFO:1000581", source="MONDO:equivalentTo"} xref: ONCOTREE:THYM {source="MONDO:equivalentTo"} xref: Orphanet:99867 {source="MONDO:equivalentTo"} xref: SCTID:444231005 {source="DOID:3275", source="MONDO:equivalentTo"} xref: UMLS:C0040100 {source="DOID:3275", source="ORDO:99867/e", source="Orphanet:99867", source="MONDO:equivalentTo", source="NCIT:C3411"} xref: UMLS:C0040100 {source="DOID:3275", source="Orphanet:99867", source="MONDO:equivalentTo", source="NCIT:C3411", source="Orphanet:99867/e"} is_a: MONDO:0018079 {source="NCIT:C3411", source="ONCOTREE:THYM", source="Orphanet:99867"} ! thymic epithelial neoplasm property_value: closeMatch http://identifiers.org/meddra/10043670 property_value: closeMatch http://identifiers.org/snomedct/128856005 property_value: closeMatch http://identifiers.org/snomedct/189721001 property_value: exactMatch DOID:3275 property_value: exactMatch DOID:3275 property_value: exactMatch http://identifiers.org/meddra/10043670 property_value: exactMatch http://identifiers.org/mesh/D013945 property_value: exactMatch http://identifiers.org/mesh/D013945 property_value: exactMatch http://identifiers.org/snomedct/444231005 property_value: exactMatch http://identifiers.org/snomedct/444231005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040100 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040100 property_value: exactMatch NCIT:C3411 property_value: exactMatch NCIT:C3411 property_value: exactMatch Orphanet:99867 property_value: IAO:0000589 "thymoma (disease)" xsd:string [Term] id: EFO:1000582 name: Thymoma Type AB def: "A thymic epithelial neoplasm characterized by the presence of a lymphocyte-poor component similar to that seen in type A thymoma and a lymphocyte-rich component which contains neoplastic small polygonal epithelial cells. It may be associated with myasthenia gravis and pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II or stage III tumors. The overall survival is reported to be 80-100% at 5 and 10 years." [NCIT:C6885] subset: ordo_histopathological_subtype {source="Orphanet:263324"} synonym: "mixed type thymoma" EXACT [NCIT:C6885] synonym: "primary thymic epithelial neoplasm type AB" EXACT [Orphanet:263324] synonym: "primary thymic epithelial tumor type AB" EXACT [Orphanet:263324] synonym: "primary thymic epithelial tumour type AB" EXACT OMO:0003005 [] synonym: "thymoma type AB" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "thymoma type AB" EXACT [] {comment="preferred label from MONDO"} synonym: "thymoma type AB" EXACT [MONDO:0002589, NCIT:C6885] synonym: "thymoma, mixed type" EXACT [DOID:3280] xref: DOID:3280 {source="MONDO:equivalentTo"} xref: EFO:1000582 {source="MONDO:equivalentTo"} xref: ICD10:C37 {source="ORDO:263324/ntbt", source="Orphanet:263324"} xref: ICD10:D15.0 {source="MONDO:relatedTo", source="ORDO:263324/ntbt", source="Orphanet:263324"} xref: ICD10CM:D15.0 {source="MONDO:relatedTo", source="Orphanet:263324", source="Orphanet:263324/ntbt"} xref: ICDO:8582/1 {source="NCIT:C6885"} xref: MONDO:0016975 xref: NCIT:C6885 {source="EFO:1000582", source="MONDO:equivalentTo", source="DOID:3280"} xref: Orphanet:263324 {source="MONDO:equivalentTo"} xref: UMLS:C1266092 {source="MONDO:equivalentTo", source="NCIT:C6885", source="ORDO:263324/e", source="Orphanet:263324", source="DOID:3280"} xref: UMLS:C1266092 {source="MONDO:equivalentTo", source="NCIT:C6885", source="Orphanet:263324", source="DOID:3280", source="Orphanet:263324/e"} is_a: EFO:1000581 {source="DOID:3280", source="EFO:1000582", source="NCIT:C6885", source="Orphanet:263324"} ! Thymoma property_value: closeMatch http://identifiers.org/snomedct/128709000 property_value: exactMatch DOID:3280 property_value: exactMatch DOID:3280 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266092 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266092 property_value: exactMatch NCIT:C6885 property_value: exactMatch NCIT:C6885 property_value: exactMatch Orphanet:263324 [Term] id: EFO:1000583 name: Thymoma Type B3 def: "Also known as well-differentiated thymic carcinoma, atypical thymoma, or epithelial thymoma, this type of thymoma displays morphologic characteristics of a well-differentiated carcinoma. The majority of cases occur in the anterior mediastinum as Masaoka stage II or stage III tumors. It is almost always invasive, it recurs frequently, and metastasizes in approximately 20% of the cases." [NCIT:C7997] synonym: "atypical thymoma" EXACT [NCIT:C7997] synonym: "epithelial malignant thymoma" EXACT [MONDO:0004399, NCIT:C7997] synonym: "epithelial thymoma" EXACT [NCIT:C7997] synonym: "malignant thymoma type B3" EXACT [NCIT:C7997] synonym: "squamoid thymoma" EXACT [DOID:7926, NCIT:C7997] synonym: "thymoma type B3" EXACT [] {comment="preferred label from MONDO"} synonym: "thymoma type B3" EXACT [NCIT:C7997] synonym: "thymoma type B3" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "thymoma, epithelial" EXACT [DOID:7926] synonym: "well differentiated thymic carcinoma" EXACT [DOID:7926, NCIT:C7997] synonym: "well-differentiated thymic carcinoma" EXACT [NCIT:C7997] xref: DOID:7926 {source="MONDO:equivalentTo"} xref: EFO:1000583 {source="MONDO:equivalentTo"} xref: ICDO:8585/1 {source="NCIT:C7997"} xref: ICDO:8585/3 {source="NCIT:C7997"} xref: MONDO:0006458 xref: NCIT:C7997 {source="EFO:1000583", source="MONDO:equivalentTo", source="DOID:7926"} xref: UMLS:C0279705 {source="MONDO:equivalentTo", source="DOID:7926", source="NCIT:C7997"} is_a: MONDO:0016974 {source="DOID:7926", source="NCIT:C7997"} ! thymoma type B property_value: closeMatch http://identifiers.org/snomedct/128715000 property_value: closeMatch http://identifiers.org/snomedct/128716004 property_value: exactMatch DOID:7926 property_value: exactMatch DOID:7926 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279705 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279705 property_value: exactMatch NCIT:C7997 property_value: exactMatch NCIT:C7997 [Term] id: EFO:1000584 name: Thymoma Type B1 alt_id: MONDO:0004036 def: "A thymic epithelial neoplasm characterized by the presence of expanded areas which resemble the normal thymic cortex. The neoplastic epithelial cells are small and scant and there is a dense T-lymphocytic component present. Areas of medullary differentiation with or without Hassall's corpuscles are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It has a low grade malignant potential. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II tumors." [NCIT:C6887] synonym: "lymphocyte-predominant thymoma" EXACT [DOID:6917, NCIT:C6887] synonym: "lymphocyte-rich thymoma" EXACT [NCIT:C6887] synonym: "organoid thymoma" EXACT [NCIT:C6887] synonym: "predominantly cortical thymoma" EXACT [NCIT:C6887] synonym: "thymoma type B1" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "thymoma type B1" EXACT [] {comment="preferred label from MONDO"} synonym: "thymoma type B1" EXACT [NCIT:C6887] synonym: "thymoma, organoid" EXACT [DOID:6917] xref: DOID:6917 {source="MONDO:equivalentTo"} xref: EFO:1000584 {source="MONDO:equivalentTo"} xref: ICDO:8583/1 {source="NCIT:C6887"} xref: MONDO:0006459 xref: NCIT:C6887 {source="EFO:1000584", source="MONDO:equivalentTo", source="DOID:6917"} xref: UMLS:C1266094 {source="MONDO:equivalentTo", source="NCIT:C6887", source="DOID:6917"} is_a: MONDO:0016974 {source="DOID:6917", source="NCIT:C6887"} ! thymoma type B property_value: closeMatch http://identifiers.org/snomedct/128711009 property_value: exactMatch DOID:6917 property_value: exactMatch DOID:6917 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266094 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266094 property_value: exactMatch NCIT:C6887 property_value: exactMatch NCIT:C6887 [Term] id: EFO:1000585 name: Thyroglossal Duct Cyst def: "A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in the midline of the neck." [NCIT:P378] synonym: "thyroglossal duct cyst" EXACT [] {comment="preferred label from MONDO"} synonym: "thyroglossal duct cyst" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "thyroglossal tract cyst" EXACT [Orphanet:489] xref: EFO:1000585 {source="MONDO:equivalentTo"} xref: ICD9:759.2 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:759.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D013955 {source="MONDO:equivalentTo"} xref: MONDO:0006460 xref: Orphanet:489 {source="MONDO:equivalentObsolete"} xref: SCTID:39462005 {source="MONDO:equivalentTo"} is_a: EFO:0000616 {source="EFO:1000585", source="MESH:D013955/inferred"} ! neoplasm property_value: exactMatch http://identifiers.org/mesh/D013955 property_value: exactMatch http://identifiers.org/mesh/D013955 property_value: exactMatch http://identifiers.org/snomedct/39462005 property_value: exactMatch http://identifiers.org/snomedct/39462005 property_value: exactMatch NCIT:C85189 [Term] id: EFO:1000586 name: obsolete_Thyroid Gland Carcinoma def: "A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic." [] xref: NCIt:C4815 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.83" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate terms, use EFO_0002892 thyroid carcinoma" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0002892 [Term] id: EFO:1000587 name: Thyroid Gland Diffuse Large B-Cell Lymphoma def: "A diffuse large B-cell lymphoma primarily involving the thyroid gland." [NCIT:C6046] synonym: "diffuse large B-cell lymphoma of the thyroid" EXACT [NCIT:C6046] synonym: "diffuse large B-cell lymphoma of the thyroid gland" EXACT [NCIT:C6046] synonym: "diffuse large B-cell lymphoma of thyroid" EXACT [NCIT:C6046] synonym: "diffuse large B-cell lymphoma of thyroid gland" EXACT [NCIT:C6046] synonym: "primary thyroid gland diffuse large B-cell lymphoma" EXACT [NCIT:C6046] synonym: "thyroid diffuse large B-cell lymphoma" EXACT [NCIT:C6046] synonym: "thyroid gland diffuse large B-cell lymphoma" EXACT [MONDO:patterns/location, NCIT:C6046] synonym: "thyroid gland diffuse large B-cell lymphoma" EXACT [] {comment="preferred label from MONDO"} synonym: "thyroid gland diffuse large B-cell lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:1000587 {source="MONDO:equivalentTo"} xref: MONDO:0006462 xref: NCIT:C6046 {source="DesignPattern", source="MONDO:equivalentTo", source="EFO:1000587", source="exact-label-match"} xref: NCIT:C6046 {source="MONDO:equivalentTo", source="EFO:1000587", source="MONDO:exact-label-match"} xref: UMLS:C1336749 {source="NCIT:C6046", source="MONDO:equivalentTo"} is_a: EFO:0000403 {source="MONDO:Redundant", source="NCIT:C6046"} ! diffuse large B-cell lymphoma is_a: MONDO:0000621 ! immune system cancer is_a: MONDO:0019962 ! thyroid lymphoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336749 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336749 property_value: exactMatch NCIT:C6046 property_value: exactMatch NCIT:C6046 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:1000588 name: Thyroid Gland Hyalinizing Trabecular Tumor def: "A rare, circumscribed or encapsulated tumor arising from the follicular cells of the thyroid gland. It is characterized by a trabecular growth pattern and hyalinized stroma formation. The vast majority of cases have a benign clinical course." [] xref: NCIt:C6846 is_a: EFO:0003841 ! thyroid neoplasm [Term] id: EFO:1000589 name: Thyroid Gland Mixed Medullary and Follicular Cell Carcinoma def: "A primary carcinoma of the thyroid gland containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell carcinoma structures that are immunohistochemically positive for thyroglobulin." [] xref: NCIt:C46104 is_a: EFO:0003769 ! endocrine neoplasm [Term] id: EFO:1000590 name: Thyroid Gland Mucoepidermoid Carcinoma def: "A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent." [NCIT:C38762] synonym: "mucoepidermoid thyroid carcinoma" EXACT [MONDO:0003094, NCIT:C38762] synonym: "mucoepidermoid thyroid gland carcinoma" EXACT [NCIT:C38762] synonym: "thyroid gland mucoepidermoid carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "thyroid gland mucoepidermoid carcinoma" EXACT [MONDO:patterns/location, NCIT:C38762] synonym: "thyroid gland mucoepidermoid carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: DOID:4687 {source="MONDO:equivalentTo"} xref: EFO:1000590 {source="MONDO:equivalentTo"} xref: MONDO:0006463 xref: NCIT:C38762 {source="EFO:1000590", source="DOID:4687", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C38762 {source="EFO:1000590", source="DOID:4687", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1513721 {source="DOID:4687", source="NCIT:C38762", source="MONDO:equivalentTo"} is_a: MONDO:0003036 {source="MONDO:Redundant", source="NCIT:C38762"} ! mucoepidermoid carcinoma is_a: MONDO:0024622 ! thyroid gland adenocarcinoma property_value: exactMatch DOID:4687 property_value: exactMatch DOID:4687 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1513721 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1513721 property_value: exactMatch NCIT:C38762 property_value: exactMatch NCIT:C38762 property_value: http://purl.org/dc/terms/conformsTo mucoepidermoid:carcinoma.yaml [Term] id: EFO:1000591 name: Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma def: "An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis." [NCIT:P378] synonym: "thyroid gland mucosa-associated lymphoid tissue lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "thyroid gland mucosa-associated lymphoid tissue lymphoma" EXACT [] {comment="preferred label from MONDO"} synonym: "thyroid MALT lymphoma" EXACT [NCIT:C7601] synonym: "thyroid mucosa-associated lymphoid tissue lymphoma" EXACT [NCIT:C7601] xref: EFO:1000591 {source="MONDO:equivalentTo"} xref: MONDO:0006464 xref: NCIT:C7601 {source="EFO:1000591", source="MONDO:equivalentTo"} xref: UMLS:C1336754 {source="MONDO:equivalentTo", source="NCIT:C7601"} is_a: EFO:0000191 {source="NCIT:C7601"} ! MALT lymphoma is_a: EFO:0001379 ! endocrine system disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336754 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336754 property_value: exactMatch NCIT:C7601 property_value: exactMatch NCIT:C7601 [Term] id: EFO:1000592 name: Thyroid Gland Oncocytic Follicular Carcinoma def: "A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent." [NCIT:P378] synonym: "Hurthle cell carcinoma of the thyroid" EXACT [NCIT:C4946] synonym: "Hurthle cell carcinoma of the thyroid gland" EXACT [NCIT:C4946] synonym: "Hurthle cell carcinoma of thyroid" EXACT [NCIT:C4946] synonym: "Hurthle cell carcinoma of thyroid gland" EXACT [NCIT:C4946] synonym: "Hurthle cell thyroid gland carcinoma" EXACT [NCIT:C4946] synonym: "oncocytic carcinoma of the thyroid" EXACT [NCIT:C4946] synonym: "oncocytic carcinoma of thyroid" EXACT [NCIT:C4946] synonym: "thyroid gland Hurthle cell carcinoma" EXACT [NCIT:C4946] synonym: "thyroid gland Hurthle cell carcinoma" RELATED [NCIT:C4946] synonym: "thyroid gland oncocytic follicular carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "thyroid gland oncocytic follicular carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "thyroid Hurthle cell carcinoma" EXACT [NCIT:C4946] synonym: "thyroid Hurthle cell carcinoma" RELATED [NCIT:C4946] synonym: "thyroid oncocytic carcinoma" EXACT [NCIT:C4946] xref: EFO:1000592 {source="MONDO:equivalentTo"} xref: MONDO:0006465 xref: NCIT:C4946 {source="EFO:1000592", source="MONDO:equivalentTo"} is_a: EFO:0000228 {source="EFO:1000592", source="NCIT:C4946/inferred"} ! adenocarcinoma is_a: EFO:0001379 ! endocrine system disease property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0749424 property_value: exactMatch NCIT:C4946 property_value: exactMatch NCIT:C4946 [Term] id: EFO:1000593 name: Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation def: "A rare, slow growing, primary carcinoma of the thyroid gland characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. A small number of cases are composed exclusively of spindle epithelial cells or glandular cells." [NCIT:C46105] synonym: "settle" EXACT [NCIT:C46105] synonym: "settle tumor" EXACT [DOID:0050923] synonym: "settle tumour" EXACT OMO:0003005 [] synonym: "spindle epithelial tumor with thymus-like differentiation tumor" EXACT [MONDO:0000538] synonym: "spindle epithelial tumour with thymus-like differentiation tumour" EXACT OMO:0003005 [] synonym: "thyroid gland spindle cell tumor with thymus-like differentiation" EXACT [] {comment="preferred label from MONDO"} synonym: "thyroid gland spindle cell tumor with thymus-like differentiation" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: DOID:0050923 {source="MONDO:equivalentTo"} xref: EFO:1000593 {source="MONDO:equivalentTo"} xref: ICDO:8588/3 {source="NCIT:C46105"} xref: MONDO:0006466 xref: NCIT:C46105 {source="EFO:1000593", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C46105 {source="EFO:1000593", source="MONDO:equivalentTo", source="exact-label-match"} xref: UMLS:C1266099 {source="MONDO:equivalentTo", source="NCIT:C46105"} is_a: EFO:0002892 {source="DOID:0050923", source="NCIT:C46105"} ! thyroid carcinoma property_value: exactMatch DOID:0050923 property_value: exactMatch DOID:0050923 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266099 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266099 property_value: exactMatch NCIT:C46105 property_value: exactMatch NCIT:C46105 property_value: excluded_subClassOf MONDO:0005094 {source="EFO:1000593"} [Term] id: EFO:1000594 name: Thyroid Gland Squamous Cell Carcinoma def: "A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive." [NCIT:C46008] synonym: "squamous cell thyroid gland carcinoma" EXACT [NCIT:C46008] synonym: "thyroid gland squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C46008] synonym: "thyroid gland squamous cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "thyroid gland squamous cell carcinoma" EXACT [] {comment="preferred label from MONDO"} xref: EFO:1000594 {source="MONDO:equivalentTo"} xref: MONDO:0006467 xref: NCIT:C46008 {source="DesignPattern", source="EFO:1000594", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C46008 {source="EFO:1000594", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1710177 {source="MONDO:equivalentTo", source="NCIT:C46008"} is_a: EFO:0000707 {source="EFO:1000594", source="MONDO:Redundant", source="NCIT:C46008"} ! squamous cell carcinoma is_a: EFO:0002892 {source="MONDO:Redundant", source="NCIT:C46008"} ! thyroid carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1710177 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1710177 property_value: exactMatch NCIT:C46008 property_value: exactMatch NCIT:C46008 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/squamous_cell_carcinoma.yaml [Term] id: EFO:1000595 name: Thyroid Gland Undifferentiated (Anaplastic) Carcinoma def: "A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive." [NCIT:C3878] subset: gard_rare subset: ordo_disease {source="Orphanet:142"} synonym: "anaplastic carcinoma of the thyroid" EXACT [NCIT:C3878] synonym: "anaplastic carcinoma of the thyroid gland" EXACT [NCIT:C3878] synonym: "anaplastic carcinoma of thyroid" EXACT [NCIT:C3878] synonym: "anaplastic carcinoma of thyroid gland" EXACT [NCIT:C3878] synonym: "anaplastic thyroid cancer" EXACT [NCIT:C3878] synonym: "anaplastic thyroid carcinoma" EXACT [GARD:0000664, MONDO:ambiguous, NCIT:C3878] synonym: "anaplastic thyroid gland carcinoma" EXACT [NCIT:C3878] synonym: "Dedifferentiated thyroid gland carcinoma" EXACT [NCIT:C3878] synonym: "metaplastic thyroid gland carcinoma" EXACT [NCIT:C3878] synonym: "pleomorphic thyroid gland carcinoma" EXACT [NCIT:C3878] synonym: "sarcomatoid thyroid gland carcinoma" EXACT [NCIT:C3878] synonym: "THAP" RELATED ABBREVIATION [ONCOTREE:THAP] synonym: "thyroid cancer, anaplastic" RELATED [GARD:0000664] synonym: "thyroid carcinoma, anaplastic" RELATED [GARD:0000664] synonym: "thyroid gland carcinosarcoma" EXACT [NCIT:C3878] synonym: "thyroid gland undifferentiated (anaplastic) carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "thyroid gland undifferentiated (anaplastic) carcinoma" EXACT [NCIT:C3878] synonym: "thyroid gland undifferentiated (anaplastic) carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "thyroid gland undifferentiated carcinoma" EXACT [MONDO:patterns/location] synonym: "undifferentiated (anaplastic) thyroid gland cancer" EXACT [NCIT:C3878] synonym: "undifferentiated (anaplastic) thyroid gland carcinoma" EXACT [NCIT:C3878] synonym: "undifferentiated carcinoma of the thyroid" EXACT [NCIT:C3878] synonym: "undifferentiated carcinoma of the thyroid gland" EXACT [NCIT:C3878] synonym: "undifferentiated carcinoma of thyroid" EXACT [NCIT:C3878] synonym: "undifferentiated carcinoma of thyroid gland" EXACT [NCIT:C3878] synonym: "undifferentiated thyroid carcinoma" EXACT [NCIT:C3878] synonym: "undifferentiated thyroid gland carcinoma" EXACT [NCIT:C3878] synonym: "undifferentiated thyroid tumor" EXACT [NCIT:C3878] synonym: "undifferentiated thyroid tumour" EXACT OMO:0003005 [] xref: DOID:0080522 {source="MONDO:equivalentTo"} xref: EFO:1000595 {source="MONDO:equivalentTo"} xref: GARD:0000664 {source="MONDO:equivalentTo"} xref: HP:0011779 {source="MONDO:otherHierarchy"} xref: ICD10:C73 {source="ORDO:142/ntbt", source="Orphanet:142"} xref: MedDRA:10002240 {source="Orphanet:142/e", source="Orphanet:142"} xref: MedDRA:10002240 {source="ORDO:142/e", source="Orphanet:142"} xref: MESH:D065646 {source="MONDO:equivalentTo"} xref: MONDO:0006468 xref: NCIT:C3878 {source="DesignPattern", source="EFO:1000595", source="MONDO:equivalentTo"} xref: NCIT:C3878 {source="EFO:1000595", source="MONDO:equivalentTo"} xref: ONCOTREE:THAP {source="MONDO:equivalentTo"} xref: Orphanet:142 {source="MONDO:equivalentTo"} xref: SCTID:255031003 {source="MONDO:equivalentTo"} xref: UMLS:C0238461 {source="GARD:0000664", source="MONDO:equivalentTo", source="ORDO:142/e", source="Orphanet:142", source="NCIT:C3878"} xref: UMLS:C0238461 {source="Orphanet:142/e", source="GARD:0000664", source="MONDO:equivalentTo", source="Orphanet:142", source="NCIT:C3878"} is_a: EFO:0002892 {source="MONDO:Redundant", source="NCIT:C3878", source="Orphanet:142"} ! thyroid carcinoma is_a: EFO:0006772 {source="EFO:1000595", source="MONDO:Redundant", source="NCIT:C3878"} ! undifferentiated carcinoma is_a: MONDO:0005232 {source="NCIT:C3878"} ! large cell carcinoma property_value: closeMatch http://identifiers.org/meddra/10002240 property_value: exactMatch DOID:0080522 property_value: exactMatch DOID:0080522 property_value: exactMatch http://identifiers.org/meddra/10002240 property_value: exactMatch http://identifiers.org/mesh/D065646 property_value: exactMatch http://identifiers.org/mesh/D065646 property_value: exactMatch http://identifiers.org/snomedct/255031003 property_value: exactMatch http://identifiers.org/snomedct/255031003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238461 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238461 property_value: exactMatch NCIT:C3878 property_value: exactMatch NCIT:C3878 property_value: exactMatch Orphanet:142 [Term] id: EFO:1000596 name: Tibial Adamantinoma def: "An adamantinoma arising from the tibia. The tibia is the site which is more frequently involved by adamantinoma (80-90% of cases)." [NCIT:C8461] synonym: "adamantinoma of tibia" EXACT [MONDO:design_pattern] synonym: "tibia adamantinoma" EXACT [MONDO:patterns/location] synonym: "tibia long bone adamantinoma" EXACT [MONDO:patterns/location] synonym: "tibial adamantinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "tibial adamantinoma" EXACT [DOID:6322, NCIT:C8461] synonym: "tibial adamantinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "tibial adamantinoma morphology" EXACT [DOID:6322] xref: DOID:6322 {source="MONDO:equivalentTo"} xref: EFO:1000596 {source="MONDO:equivalentTo"} xref: MONDO:0006469 xref: NCIT:C8461 {source="DOID:6322", source="MONDO:equivalentTo", source="EFO:1000596", source="exact-label-match"} xref: NCIT:C8461 {source="DOID:6322", source="MONDO:equivalentTo", source="EFO:1000596", source="MONDO:exact-label-match"} xref: SCTID:281702006 {source="DOID:6322", source="MONDO:equivalentTo"} xref: UMLS:C1273017 {source="DOID:6322", source="MONDO:equivalentTo", source="NCIT:C8461"} is_a: MONDO:0000952 ! cancer of long bone of lower limb is_a: MONDO:0002422 {source="DOID:6322", source="DOID:6322/inferred", source="MONDO:Redundant", source="NCIT:C8461"} ! adamantinoma is_a: MONDO:0023603 ! hereditary disorder of connective tissue is_a: Orphanet:183527 ! Genetic bone tumor property_value: closeMatch http://identifiers.org/snomedct/189895006 property_value: closeMatch http://identifiers.org/snomedct/210233007 property_value: closeMatch http://identifiers.org/snomedct/313417009 property_value: closeMatch http://identifiers.org/snomedct/56763007 property_value: exactMatch DOID:6322 property_value: exactMatch DOID:6322 property_value: exactMatch http://identifiers.org/snomedct/281702006 property_value: exactMatch http://identifiers.org/snomedct/281702006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1273017 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1273017 property_value: exactMatch NCIT:C8461 property_value: exactMatch NCIT:C8461 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:1000597 name: Tonsillar Squamous Cell Carcinoma def: "A squamous cell carcinoma that arises from the mucosal lining of the tonsil and tends to metastasize early to the lymph nodes. It predominantly affects middle aged and elderly patients who have a history of alcohol and tobacco use. Patients may present with tonsillar swelling, sore throat, pain radiating to the ipsilateral ear, or a neck mass." [NCIT:P378] synonym: "palatine tonsil squamous cell carcinoma" EXACT [MONDO:patterns/location] synonym: "scc of the tonsil" EXACT [NCIT:C8183] synonym: "scc of tonsil" EXACT [NCIT:C8183] synonym: "squamous cell carcinoma of the tonsil" EXACT [NCIT:C8183] synonym: "squamous cell carcinoma of tonsil" EXACT [NCIT:C8183] synonym: "tonsil scc" EXACT [NCIT:C8183] synonym: "tonsillar scc" EXACT [NCIT:C8183] synonym: "tonsillar squamous cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "tonsillar squamous cell carcinoma" EXACT [] {comment="preferred label from MONDO"} xref: EFO:1000597 {source="MONDO:equivalentTo"} xref: MONDO:0006470 xref: NCIT:C8183 {source="EFO:1000597", source="MONDO:equivalentTo"} xref: UMLS:C0280317 {source="MONDO:equivalentTo", source="NCIT:C8183"} is_a: MONDO:0000535 ! tonsil squamous cell carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280317 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280317 property_value: exactMatch NCIT:C8183 property_value: exactMatch NCIT:C8183 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/squamous_cell_carcinoma.yaml [Term] id: EFO:1000598 name: Tracheal Adenoid Cystic Carcinoma def: "An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes." [NCIT:C6051] synonym: "adenoid cystic carcinoma of the trachea" EXACT [NCIT:C6051] synonym: "adenoid cystic carcinoma of trachea" EXACT [DOID:4875, NCIT:C6051] synonym: "trachea adenoid cystic carcinoma" EXACT [MONDO:0003183, MONDO:patterns/location, NCIT:C6051] synonym: "tracheal adenoid cystic carcinoma" EXACT [DOID:4875, NCIT:C6051] synonym: "tracheal adenoid cystic carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "tracheal adenoid cystic carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: DOID:4875 {source="MONDO:equivalentTo"} xref: EFO:1000598 {source="MONDO:equivalentTo"} xref: MONDO:0006471 xref: NCIT:C6051 {source="DOID:4875", source="MONDO:equivalentTo", source="EFO:1000598"} xref: SCTID:254619006 {source="DOID:4875", source="MONDO:equivalentTo"} xref: UMLS:C0345945 {source="DOID:4875", source="MONDO:equivalentTo", source="NCIT:C6051"} is_a: EFO:0000231 {source="EFO:1000598", source="MONDO:Redundant", source="NCIT:C6051"} ! adenoid cystic carcinoma is_a: EFO:1000599 {source="DOID:4875", source="MONDO:Redundant", source="NCIT:C6051"} ! Tracheal Carcinoma property_value: exactMatch DOID:4875 property_value: exactMatch DOID:4875 property_value: exactMatch http://identifiers.org/snomedct/254619006 property_value: exactMatch http://identifiers.org/snomedct/254619006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345945 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345945 property_value: exactMatch NCIT:C6051 property_value: exactMatch NCIT:C6051 [Term] id: EFO:1000599 name: Tracheal Carcinoma def: "A carcinoma that arises from epithelial cells of the trachea." [https://orcid.org/0000-0002-6601-2165] def: "A carcinoma that arises from epithelial cells of the trachea." [MONDO:DesignPattern] synonym: "Ca trachea" EXACT [DOID:4876] synonym: "cancer of the trachea" EXACT [NCIT:C9347] synonym: "cancer of trachea" BROAD [NCIT:C9347] synonym: "carcinoma of the trachea" EXACT [DOID:4876, NCIT:C9347] synonym: "carcinoma of trachea" EXACT [MONDO:patterns/carcinoma, NCIT:C9347] synonym: "Pancoast's tumour" RELATED OMO:0003005 [] synonym: "trachea cancer" BROAD [NCIT:C9347] synonym: "trachea carcinoma" EXACT [MONDO:patterns/location, NCIT:C9347] synonym: "trachea carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "trachea carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "tracheal carcinoma" EXACT [NCIT:C9347] xref: DOID:4876 {source="MONDO:equivalentTo"} xref: EFO:1000599 {source="MONDO:equivalentTo"} xref: MONDO:0003184 xref: NCIT:C9347 {source="MONDO:equivalentTo", source="EFO:1000599"} xref: UMLS:C1744708 {source="NCIT:C9347", source="MONDO:equivalentTo"} is_a: EFO:0000313 {source="DOID:4876", source="EFO:1000599", source="MONDO:Redundant", source="NCIT:C9347"} ! carcinoma is_a: MONDO:0001407 {source="DOID:4876", source="MONDO:Redundant", source="NCIT:C9347"} ! tracheal cancer property_value: closeMatch http://identifiers.org/snomedct/154486000 property_value: closeMatch http://identifiers.org/snomedct/269562004 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0848879 property_value: exactMatch DOID:4876 property_value: exactMatch DOID:4876 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1744708 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1744708 property_value: exactMatch NCIT:C9347 property_value: exactMatch NCIT:C9347 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:1000600 name: Tracheal Squamous Cell Carcinoma def: "A rare squamous cell carcinoma that arises from the mucosal lining of the trachea. It usually grows as an intraluminal mass and later invades extraluminal structures. The majority of patients present with hemoptysis, coughing, dyspnea, or stridor." [NCIT:P378] synonym: "epidermoid carcinoma of the trachea" EXACT [NCIT:C4448] synonym: "epidermoid carcinoma of trachea" EXACT [NCIT:C4448] synonym: "squamous cell carcinoma of the trachea" EXACT [NCIT:C4448] synonym: "squamous cell carcinoma of trachea" EXACT [DOID:12003, NCIT:C4448] synonym: "trachea epidermoid carcinoma" EXACT [NCIT:C4448] synonym: "trachea squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C4448] synonym: "trachea squamous cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "trachea squamous cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "tracheal epidermoid carcinoma" EXACT [DOID:12003, NCIT:C4448] synonym: "tracheal squamous cell carcinoma" EXACT [NCIT:C4448] xref: DOID:12003 {source="MONDO:equivalentTo"} xref: EFO:1000600 {source="MONDO:equivalentTo"} xref: MONDO:0001419 xref: NCIT:C4448 {source="MONDO:equivalentTo", source="EFO:1000600", source="DOID:12003"} xref: SCTID:254620000 {source="MONDO:equivalentTo", source="DOID:12003"} xref: UMLS:C0345946 {source="MONDO:equivalentTo", source="DOID:12003", source="NCIT:C4448"} is_a: EFO:0000707 {source="DOID:12003", source="EFO:1000600", source="MONDO:Redundant", source="NCIT:C4448"} ! squamous cell carcinoma is_a: EFO:1000599 {source="DOID:12003", source="MONDO:Redundant", source="NCIT:C4448"} ! Tracheal Carcinoma property_value: exactMatch DOID:12003 property_value: exactMatch DOID:12003 property_value: exactMatch http://identifiers.org/snomedct/254620000 property_value: exactMatch http://identifiers.org/snomedct/254620000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345946 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345946 property_value: exactMatch NCIT:C4448 property_value: exactMatch NCIT:C4448 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/squamous_cell_carcinoma.yaml [Term] id: EFO:1000601 name: Transitional Cell Carcinoma def: "A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries." [NCIT:P378] subset: gard_rare {source="GARD:0007794"} synonym: "carcinoma of transitional epithelial cell" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of urothelial cell" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma, urothelial, malignant" EXACT [NCIT:C2930] synonym: "transitional carcinoma" EXACT [DOID:2671, NCIT:C2930] synonym: "transitional cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "transitional cell carcinoma" EXACT [NCIT:C2930] synonym: "transitional cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "transitional cell neoplasm" BROAD [DOID:2671] synonym: "transitional cell neoplasm" RELATED [DOID:2671] synonym: "transitional cell tumor" BROAD [DOID:2671, NCIT:C6783] synonym: "transitional cell tumor" EXACT [DOID:2671, NCIT:C6783] synonym: "transitional cell tumour" BROAD OMO:0003005 [] synonym: "transitional epithelial cell carcinoma" EXACT [] synonym: "urothelial cell carcinoma" EXACT [DOID:2671, MONDO:patterns/location] xref: DOID:2671 {source="MONDO:equivalentTo"} xref: EFO:1000601 {source="MONDO:equivalentTo"} xref: GARD:0007794 {source="MONDO:equivalentTo"} xref: ICDO:8120/3 {source="NCIT:C2930"} xref: MESH:D002295 {source="DOID:2671", source="MONDO:equivalentTo"} xref: MONDO:0006474 xref: NCIT:C2930 {source="DOID:2671", source="MONDO:equivalentTo", source="EFO:1000601"} xref: NCIT:C6783 {source="DOID:2671", source="MONDO:relatedTo"} xref: UMLS:C0007138 {source="DOID:2671", source="MONDO:equivalentTo", source="NCIT:C2930"} xref: UMLS:C0334265 {source="DOID:2671", source="MONDO:relatedTo"} is_a: EFO:0000313 {source="DOID:2671", source="EFO:1000601", source="MESH:D002295", source="MONDO:Redundant", source="NCIT:C2930"} ! carcinoma property_value: closeMatch http://identifiers.org/snomedct/118287003 property_value: closeMatch http://identifiers.org/snomedct/189576006 property_value: closeMatch http://identifiers.org/snomedct/27090000 property_value: exactMatch DOID:2671 property_value: exactMatch DOID:2671 property_value: exactMatch http://identifiers.org/mesh/D002295 property_value: exactMatch http://identifiers.org/mesh/D002295 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007138 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007138 property_value: exactMatch NCIT:C2930 property_value: exactMatch NCIT:C2930 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7794/transitional-cell-carcinoma xsd:anyURI {source="GARD:0007794"} [Term] id: EFO:1000602 name: Transitional Meningioma def: "A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns." [] xref: NCIt:C4333 is_a: EFO:0003851 ! meningeal neoplasm relationship: EFO:0000784 UBERON:0002360 ! has_disease_location meninx [Term] id: EFO:1000603 name: Unclassified Renal Cell Carcinoma def: "A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology." [NCIT:C27892] synonym: "unclassified renal cell cancer" EXACT [NCIT:C27892] synonym: "unclassified renal cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "unclassified renal cell carcinoma" EXACT [NCIT:C27892] synonym: "URCC" RELATED ABBREVIATION [ONCOTREE:URCC] xref: EFO:1000603 {source="MONDO:equivalentTo"} xref: NCIT:C27892 {source="MONDO:equivalentTo", source="EFO:1000603", source="exact-label-match"} xref: ONCOTREE:URCC {source="MONDO:equivalentTo"} xref: UMLS:C1336853 {source="NCIT:C27892", source="MONDO:equivalentTo"} is_a: EFO:0005708 ! renal cell adenocarcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336853 property_value: exactMatch NCIT:C27892 [Term] id: EFO:1000604 name: Undifferentiated Gallbladder Carcinoma def: "A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma." [NCIT:C9167] synonym: "anaplastic carcinoma of gallbladder" EXACT [NCIT:C9167] synonym: "anaplastic carcinoma of the gallbladder" EXACT [NCIT:C9167] synonym: "anaplastic gallbladder carcinoma" EXACT [NCIT:C9167] synonym: "gall bladder undifferentiated carcinoma" EXACT [MONDO:patterns/location] synonym: "gallbladder undifferentiated carcinoma" EXACT [NCIT:C9167] synonym: "undifferentiated carcinoma of gallbladder" EXACT [NCIT:C9167] synonym: "undifferentiated carcinoma of the gallbladder" EXACT [NCIT:C9167] synonym: "undifferentiated gallbladder cancer" EXACT [NCIT:C9167] synonym: "undifferentiated gallbladder carcinoma" EXACT [NCIT:C9167] synonym: "undifferentiated gallbladder carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "undifferentiated gallbladder carcinoma" EXACT [] {comment="preferred label from MONDO"} xref: EFO:1000604 {source="MONDO:equivalentTo"} xref: MONDO:0006476 xref: NCIT:C9167 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000604"} xref: NCIT:C9167 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000604"} xref: UMLS:C0279653 {source="NCIT:C9167", source="MONDO:equivalentTo"} is_a: EFO:0006772 {source="EFO:1000604", source="MONDO:Redundant", source="NCIT:C9167"} ! undifferentiated carcinoma is_a: EFO:1001956 {source="MONDO:Redundant", source="NCIT:C9167"} ! gallbladder carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279653 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279653 property_value: exactMatch NCIT:C9167 property_value: exactMatch NCIT:C9167 [Term] id: EFO:1000605 name: Undifferentiated Ovarian Carcinoma def: "An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor." [NCIT:C4509] synonym: "anaplastic carcinoma of ovary" EXACT [NCIT:C4509] synonym: "anaplastic carcinoma of the ovary" EXACT [NCIT:C4509] synonym: "anaplastic ovarian carcinoma" EXACT [NCIT:C4509] synonym: "ovarian undifferentiated carcinoma" EXACT [NCIT:C4509] synonym: "ovary undifferentiated carcinoma" EXACT [MONDO:patterns/location] synonym: "undifferentiated carcinoma of ovary" EXACT [NCIT:C4509] synonym: "undifferentiated carcinoma of the ovary" EXACT [NCIT:C4509] synonym: "undifferentiated ovarian cancer" EXACT [NCIT:C4509] synonym: "undifferentiated ovarian carcinoma" EXACT [NCIT:C4509] synonym: "undifferentiated ovarian carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "undifferentiated ovarian carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:1000605 {source="MONDO:equivalentTo"} xref: MONDO:0006477 xref: NCIT:C4509 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000605"} xref: NCIT:C4509 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000605"} xref: SCTID:254856004 {source="MONDO:equivalentTo"} xref: UMLS:C0346167 {source="NCIT:C4509", source="MONDO:equivalentTo"} is_a: EFO:0001075 {source="EFO:1000605", source="MONDO:Entailed", source="NCIT:C4509"} ! ovarian carcinoma is_a: EFO:0006772 {source="EFO:1000605", source="MONDO:Redundant", source="NCIT:C4509"} ! undifferentiated carcinoma property_value: exactMatch http://identifiers.org/snomedct/254856004 property_value: exactMatch http://identifiers.org/snomedct/254856004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346167 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346167 property_value: exactMatch NCIT:C4509 property_value: exactMatch NCIT:C4509 [Term] id: EFO:1000606 name: Undifferentiated Pancreatic Carcinoma def: "A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells." [NCIT:C5722] synonym: "pancreas undifferentiated carcinoma" EXACT [MONDO:patterns/location] synonym: "pancreatic carcinosarcoma" EXACT [NCIT:C5722] synonym: "pleomorphic large cell pancreatic carcinoma" EXACT [NCIT:C5722] synonym: "sarcomatoid pancreatic carcinoma" EXACT [NCIT:C5722] synonym: "spindle cell pancreatic carcinoma" EXACT [NCIT:C5722] synonym: "UCP" RELATED ABBREVIATION [ONCOTREE:UCP] synonym: "undifferentiated (anaplastic) pancreatic carcinoma" EXACT [NCIT:C5722] synonym: "undifferentiated carcinoma of pancreas" EXACT [NCIT:C5722] synonym: "undifferentiated carcinoma of the pancreas" EXACT [NCIT:C5722] synonym: "undifferentiated pancreatic carcinoma" EXACT [NCIT:C5722] synonym: "undifferentiated pancreatic carcinoma" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0006478 xref: NCIT:C5722 {source="EFO:1000606", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIt:C5722 xref: ONCOTREE:UCP {source="MONDO:equivalentTo"} xref: UMLS:C1336861 {source="MONDO:equivalentTo", source="NCIT:C5722"} is_a: EFO:0002517 {source="EFO:1000606", source="NCIT:C5722"} ! pancreatic ductal adenocarcinoma is_a: EFO:0006772 ! undifferentiated carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336861 property_value: exactMatch NCIT:C5722 [Term] id: EFO:1000607 name: Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells def: "A rare variant of undifferentiated pancreatic carcinoma characterized by the presence of non-neoplastic osteoclast-like giant cells." [NCIT:C5723] subset: ordo_disease {source="Orphanet:424080"} synonym: "OGCT of pancreas" EXACT [Orphanet:424080] synonym: "osteoclast-like giant cell neoplasm of pancreas" EXACT [DOID:7718, NCIT:C5723] synonym: "osteoclast-like giant cell neoplasm of the pancreas" EXACT [MONDO:0004342, NCIT:C5723] synonym: "osteoclastic giant cell tumor of pancreas" EXACT [MONDO:0018527] synonym: "osteoclastic giant cell tumour of pancreas" EXACT OMO:0003005 [] synonym: "pancreatic osteoclast-like giant cell carcinoma" EXACT [NCIT:C5723] synonym: "pancreatic osteoclastic giant cell tumor" EXACT [Orphanet:424080] synonym: "pancreatic osteoclastic giant cell tumour" EXACT OMO:0003005 [] synonym: "pancreatic undifferentiated carcinoma with osteoclast-like giant cells" EXACT [Orphanet:424080] synonym: "undifferentiated carcinoma of pancreas with osteoclast-like giant cells" EXACT [Orphanet:424080] synonym: "undifferentiated pancreatic carcinoma with osteoclast-like giant cells" EXACT [] {comment="preferred label from MONDO"} synonym: "undifferentiated pancreatic carcinoma with osteoclast-like giant cells" EXACT [NCIT:C5723] xref: DOID:7718 {source="MONDO:equivalentTo"} xref: MONDO:0006479 xref: NCIT:C5723 {source="EFO:1000607", source="MONDO:equivalentTo"} xref: NCIt:C5723 xref: Orphanet:424080 {source="MONDO:equivalentTo"} xref: UMLS:C2007059 {source="MONDO:equivalentTo", source="NCIT:C5723"} xref: UMLS:CN237530 {source="MONDO:equivalentTo"} is_a: EFO:1000606 {source="NCIT:C5723"} ! Undifferentiated Pancreatic Carcinoma relationship: has_characteristic MONDO:0021136 {source="MONDO:0016314"} ! rare property_value: exactMatch DOID:7718 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2007059 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237530 property_value: exactMatch NCIT:C5723 property_value: exactMatch Orphanet:424080 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5166 xsd:anyURI [Term] id: EFO:1000608 name: Undifferentiated Pleomorphic Sarcoma, Inflammatory Variant def: "An undifferentiated pleomorphic sarcoma characterized by the presence of numerous inflammatory cells." [NCIT:C6497] synonym: "inflammatory malignant fibrous histiocytoma" EXACT [NCIT:C6497] synonym: "inflammatory MFH" EXACT [MONDO:0003797, NCIT:C6497] synonym: "malignant xanthogranuloma" EXACT [NCIT:C6497] synonym: "undifferentiated pleomorphic sarcoma, inflammatory variant" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "undifferentiated pleomorphic sarcoma, inflammatory variant" EXACT [] {comment="preferred label from MONDO"} synonym: "undifferentiated pleomorphic sarcoma, inflammatory variant" EXACT [NCIT:C6497] synonym: "Xanthosarcoma" EXACT [DOID:6192, NCIT:C6497] xref: DOID:6192 {source="MONDO:equivalentTo"} xref: EFO:1000608 {source="MONDO:equivalentTo"} xref: MONDO:0006480 xref: NCIT:C6497 {source="EFO:1000608", source="DOID:6192", source="MONDO:equivalentTo"} xref: UMLS:C1334180 {source="NCIT:C6497", source="DOID:6192", source="MONDO:equivalentTo"} is_a: EFO:1001972 {source="DOID:6192", source="NCIT:C6497"} ! undifferentiated pleomorphic sarcoma property_value: exactMatch DOID:6192 property_value: exactMatch DOID:6192 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334180 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334180 property_value: exactMatch NCIT:C6497 property_value: exactMatch NCIT:C6497 [Term] id: EFO:1000609 name: Ureter Carcinoma def: "A carcinoma that arises from epithelial cells of the ureter." [https://orcid.org/0000-0002-6601-2165] def: "A carcinoma that arises from epithelial cells of the ureter." [MONDO:DesignPattern] synonym: "carcinoma of the ureter" EXACT [NCIT:C8993] synonym: "carcinoma of ureter" EXACT [MONDO:patterns/carcinoma, NCIT:C8993] synonym: "ureter cancer" BROAD [NCIT:C8993] synonym: "ureter cancer" EXACT [NCIT:C8993] synonym: "ureter carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "ureter carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "ureter carcinoma" EXACT [MONDO:patterns/location, NCIT:C8993] synonym: "ureteral carcinoma" EXACT [DOID:4939, NCIT:C8993] xref: DOID:4939 {source="MONDO:equivalentTo"} xref: EFO:1000609 {source="MONDO:equivalentTo"} xref: MONDO:0006481 xref: NCIT:C8993 {source="EFO:1000609", source="MONDO:equivalentTo", source="DOID:4939"} xref: SCTID:448864006 {source="MONDO:equivalentTo"} xref: UMLS:C0600079 {source="NCIT:C8993", source="MONDO:equivalentTo", source="DOID:4939"} is_a: EFO:0000313 {source="DOID:4939", source="EFO:1000609", source="MONDO:Redundant", source="NCIT:C8993"} ! carcinoma is_a: MONDO:0008627 {source="DOID:4939", source="MONDO:Redundant", source="NCIT:C8993"} ! ureter cancer property_value: exactMatch DOID:4939 property_value: exactMatch DOID:4939 property_value: exactMatch http://identifiers.org/snomedct/448864006 property_value: exactMatch http://identifiers.org/snomedct/448864006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0600079 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0600079 property_value: exactMatch NCIT:C8993 property_value: exactMatch NCIT:C8993 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:1000610 name: Ureter Small Cell Carcinoma def: "A rare carcinoma that arises from the ureter. It is characterized by the presence of small neuroendocrine cells. The prognosis is poor." [NCIT:C6176] synonym: "small cell carcinoma of the ureter" EXACT [NCIT:C6176] synonym: "small cell carcinoma of ureter" EXACT [NCIT:C6176] synonym: "ureter small cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "ureter small cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C6176] synonym: "ureter small cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "ureteral small cell carcinoma" EXACT [DOID:6886, NCIT:C6176] xref: DOID:6886 {source="MONDO:equivalentTo"} xref: EFO:1000610 {source="MONDO:equivalentTo"} xref: MONDO:0006482 xref: NCIT:C6176 {source="DOID:6886", source="MONDO:equivalentTo", source="EFO:1000610", source="exact-label-match"} xref: NCIT:C6176 {source="DOID:6886", source="MONDO:equivalentTo", source="EFO:1000610", source="MONDO:exact-label-match"} xref: UMLS:C1336878 {source="DOID:6886", source="NCIT:C6176", source="MONDO:equivalentTo"} is_a: EFO:0008524 {source="DOID:6886", source="MONDO:Redundant", source="NCIT:C6176"} ! small cell carcinoma is_a: EFO:1000609 {source="DOID:6886", source="MONDO:Redundant", source="NCIT:C6176"} ! Ureter Carcinoma property_value: exactMatch DOID:6886 property_value: exactMatch DOID:6886 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336878 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336878 property_value: exactMatch NCIT:C6176 property_value: exactMatch NCIT:C6176 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/small_cell_carcinoma.yaml [Term] id: EFO:1000611 name: Urothelial Dysplasia def: "A morphologic finding indicating the presence of dysplastic changes in the transitional cell epithelium of the urinary tract." [NCIT:C39856] comment: This is a finding in NCIT. This class may be obsoleted and ceded to HPO in future. synonym: "transitional cell dysplasia of the urinary tract" EXACT [NCIT:C39856] synonym: "urothelial dysplasia" EXACT [] {comment="preferred label from MONDO"} synonym: "urothelial dysplasia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "urothelial dysplasia" EXACT [NCIT:C39856] xref: EFO:1000611 {source="MONDO:equivalentTo"} xref: MONDO:0006483 xref: NCIT:C39856 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="EFO:1000611", source="MONDO:exact-label-match"} xref: NCIT:C39856 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="EFO:1000611", source="exact-label-match"} xref: UMLS:C1275859 {source="MONDO:equivalentTo", source="NCIT:C39856"} is_a: MONDO:0024337 ! urothelial neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275859 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275859 property_value: exactMatch NCIT:C39856 property_value: exactMatch NCIT:C39856 [Term] id: EFO:1000612 name: Usual Ductal Breast Hyperplasia def: "A neoplastic ductal proliferative lesion of the breast characterized by the formation of secondary lumens and prominent intraductal proliferation of a heterogeneous cellular population that may include epithelial cells, myoepithelial cells, or metaplastic apocrine cells." [NCIT:P378] synonym: "ductal breast hyperplasia of usual type" EXACT [NCIT:C27941] synonym: "ordinary intraductal breast hyperplasia" EXACT [NCIT:C27941] synonym: "UDH" EXACT ABBREVIATION [NCIT:C27941] synonym: "usual ductal breast hyperplasia" EXACT [] {comment="preferred label from MONDO"} xref: ICD9:611.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MONDO:0006484 xref: NCIT:C27941 {source="MONDO:equivalentTo", source="EFO:1000612"} xref: NCIt:C27941 xref: SCTID:472905007 {source="MONDO:equivalentTo"} xref: UMLS:C3532429 {source="MONDO:equivalentTo", source="NCIT:C27941"} is_a: EFO:0000536 {source="EFO:1000612", source="NCIT:C27941/inferred"} ! hyperplasia is_a: MONDO:0004007 {source="NCIT:C27941"} ! breast intraductal proliferative lesion property_value: exactMatch http://identifiers.org/snomedct/472905007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3532429 property_value: exactMatch NCIT:C27941 [Term] id: EFO:1000613 name: Uterine Carcinosarcoma def: "A usually aggressive malignant neoplasm arising from the uterine corpus and less often the cervix. It is characterized by the presence of two components: a malignant epithelial component and a sarcomatous component. In the uterine corpus the epithelial component is usually glandular whereas in the cervix is usually non-glandular. Carcinosarcoma of the cervix, although it is aggressive, it may have a better prognosis compared to the uterine corpus carcinosarcoma." [NCIT:C42700] synonym: "carcinosarcoma of the uterus" EXACT [NCIT:C42700] synonym: "malignant mixed mesodermal (Mullerian) tumor of the uterus" EXACT [NCIT:C42700] synonym: "malignant mixed mesodermal (Mullerian) tumour of the uterus" EXACT OMO:0003005 [] synonym: "malignant mixed mesodermal (Müllerian) tumor of the uterus" EXACT [NCIT:C42700] synonym: "malignant mixed mesodermal (Müllerian) tumour of the uterus" EXACT OMO:0003005 [] synonym: "mixed mullerian sarcoma of uterus" EXACT [DOID:6171, NCIT:C9180] synonym: "uterine carcinosarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "uterine carcinosarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "uterine carcinosarcoma" EXACT [NCIT:C42700] synonym: "uterine carcinosarcoma/uterine malignant mixed mullerian tumor" RELATED [ONCOTREE:UCS] synonym: "uterine carcinosarcoma/uterine malignant mixed mullerian tumour" RELATED OMO:0003005 [] synonym: "uterine malignant mixed mesodermal (Mullerian) tumor" EXACT [NCIT:C42700] synonym: "uterine malignant mixed mesodermal (Mullerian) tumour" EXACT OMO:0003005 [] synonym: "uterine malignant mixed mesodermal (Müllerian) tumor" EXACT [NCIT:C42700] synonym: "uterine malignant mixed mesodermal (Müllerian) tumour" EXACT OMO:0003005 [] synonym: "uterus carcinosarcoma" EXACT [MONDO:patterns/location] xref: DOID:6171 {source="MONDO:equivalentTo"} xref: EFO:1000613 {source="MONDO:equivalentTo"} xref: MESH:D012192 {source="MONDO:equivalentTo", source="EFO:1000613"} xref: MONDO:0006485 xref: NCIT:C42700 {source="MONDO:equivalentTo", source="DOID:6171", source="EFO:1000613"} xref: ONCOTREE:UCS {source="MONDO:equivalentTo"} xref: SCTID:702369008 {source="MONDO:equivalentTo", source="DOID:6171"} xref: UMLS:C0280630 {source="MONDO:equivalentTo", source="DOID:6171", source="NCIT:C42700"} is_a: MONDO:0002715 {source="DOID:6171/inferred", source="MONDO:Redundant", source="NCIT:C42700"} ! uterine cancer is_a: MONDO:0002928 {source="MONDO:Redundant", source="NCIT:C42700/inferred"} ! carcinosarcoma property_value: exactMatch DOID:6171 property_value: exactMatch DOID:6171 property_value: exactMatch http://identifiers.org/mesh/D012192 property_value: exactMatch http://identifiers.org/mesh/D012192 property_value: exactMatch http://identifiers.org/snomedct/702369008 property_value: exactMatch http://identifiers.org/snomedct/702369008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280630 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280630 property_value: exactMatch NCIT:C42700 property_value: exactMatch NCIT:C42700 [Term] id: EFO:1000614 name: Uterine Corpus Lipoleiomyoma def: "A rare morphologic variant of uterine leiomyoma characterized by the presence of scattered islands of mature adipocytes within the smooth muscle neoplasm." [] xref: NCIt:C40168 is_a: EFO:0003859 ! uterine neoplasm [Term] id: EFO:1000615 name: obsolete_utering smooth muscle cell property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.43.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Typo for, and duplicate of, http://purl.obolibrary.org/obo/CL_0002601" xsd:string property_value: organizational:class "true" xsd:boolean property_value: seeAlso https://github.com/EBISPOT/efo/issues/1580 xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/CL_0002601 [Term] id: EFO:1000616 name: Uveal Melanoma def: "A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B." [NCIT:P378] subset: ordo_disease {source="Orphanet:39044"} synonym: "choroidal melanoma" EXACT [Orphanet:39044] synonym: "choroidal melanoma" RELATED [Orphanet:39044] synonym: "intraocular melanoma" EXACT [NCIT:C7712] synonym: "iris melanoma" EXACT [Orphanet:39044] synonym: "iris melanoma" NARROW [Orphanet:39044] synonym: "melanoma (disease) of uvea" EXACT [] synonym: "melanoma of the uvea" EXACT [NCIT:C7712] synonym: "melanoma of uvea" EXACT [DOID:6039, NCIT:C7712] synonym: "melanoma, uveal, malignant" EXACT [NCIT:C7712] synonym: "uvea melanoma" EXACT [] synonym: "uvea melanoma (disease)" EXACT [MONDO:patterns/location] synonym: "uveal melanoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "uveal melanoma" EXACT [] {comment="preferred label from MONDO"} synonym: "uveal melanoma" EXACT [MONDO:0018313] xref: DOID:6039 {source="MONDO:equivalentTo"} xref: EFO:1000616 {source="MONDO:equivalentTo"} xref: GARD:0008621 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10:C69.3 {source="Orphanet:39044", source="ORDO:39044/ntbt"} xref: MedDRA:10061252 {source="ORDO:39044/e", source="Orphanet:39044"} xref: MedDRA:10061252 {source="Orphanet:39044", source="Orphanet:39044/e"} xref: MedDRA:10081431 xref: MESH:C536494 {source="DOID:6039", source="MONDO:equivalentTo", source="Orphanet:39044", source="Orphanet:39044/e"} xref: MESH:C536494 {source="DOID:6039", source="ORDO:39044/e", source="MONDO:equivalentTo", source="Orphanet:39044"} xref: MONDO:0006486 xref: NCIT:C7712 {source="DOID:6039", source="MONDO:equivalentTo", source="EFO:1000616"} xref: OMIM:155720 {source="DOID:6039", source="MONDO:equivalentTo", source="Orphanet:39044", source="Orphanet:39044/e"} xref: ONCOTREE:UM {source="MONDO:equivalentTo"} xref: Orphanet:39044 {source="DOID:6039", source="MONDO:equivalentTo"} xref: UMLS:C0220633 {source="DOID:6039", source="ORDO:39044/e", source="MONDO:equivalentTo", source="Orphanet:39044", source="NCIT:C7712"} xref: UMLS:C0220633 {source="DOID:6039", source="MONDO:equivalentTo", source="Orphanet:39044", source="NCIT:C7712", source="Orphanet:39044/e"} is_a: EFO:1000403 {source="MONDO:Redundant", source="NCIT:C7712", source="ONCOTREE:UM"} ! Ocular Melanoma is_a: EFO:1001230 {source="DOID:6039", source="MONDO:Redundant", source="NCIT:C7712"} ! uveal cancer relationship: has_characteristic MONDO:0021136 {source="MONDO:0015121"} ! rare property_value: closeMatch http://identifiers.org/meddra/10061252 property_value: exactMatch DOID:6039 property_value: exactMatch DOID:6039 property_value: exactMatch http://identifiers.org/meddra/10061252 property_value: exactMatch http://identifiers.org/mesh/C536494 property_value: exactMatch http://identifiers.org/mesh/C536494 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220633 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220633 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346373 property_value: exactMatch https://omim.org/entry/155720 property_value: exactMatch NCIT:C7712 property_value: exactMatch NCIT:C7712 property_value: exactMatch Orphanet:39044 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/melanoma.yaml [Term] id: EFO:1000617 name: Vaginal Adenoid Cystic Carcinoma def: "An adenoid cystic carcinoma that arises from the vagina. Myoepithelial cells are usually not present." [NCIT:C40261] synonym: "vaginal adenoid cystic cancer" EXACT [NCIT:C40261] synonym: "vaginal adenoid cystic carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "vaginal adenoid cystic carcinoma" EXACT [NCIT:C40261] synonym: "vaginal adenoid cystic carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:1000617 {source="MONDO:equivalentTo"} xref: MONDO:0006487 xref: NCIT:C40261 {source="EFO:1000617", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C40261 {source="EFO:1000617", source="MONDO:equivalentTo", source="exact-label-match"} xref: UMLS:C1519912 {source="MONDO:equivalentTo", source="NCIT:C40261"} is_a: EFO:0000231 {source="EFO:1000617", source="NCIT:C40261"} ! adenoid cystic carcinoma is_a: MONDO:0020653 ! vaginal adenocarcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519912 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519912 property_value: exactMatch NCIT:C40261 property_value: exactMatch NCIT:C40261 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql [Term] id: EFO:1000618 name: Vaginal Carcinosarcoma def: "An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component." [NCIT:C40278] synonym: "malignant vaginal mixed epithelial and mesenchymal tumor" RELATED [DOID:136] synonym: "malignant vaginal mixed epithelial and mesenchymal tumour" RELATED OMO:0003005 [] synonym: "vaginal carcinosarcoma" EXACT [NCIT:C40278] synonym: "vaginal carcinosarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "vaginal carcinosarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "vaginal malignant mixed mesodermal (Mullerian) tumor" RELATED [NCIT:C40278] synonym: "vaginal malignant mixed mesodermal (Mullerian) tumour" RELATED OMO:0003005 [] synonym: "vaginal malignant mixed mesodermal (Müllerian) tumor" EXACT [NCIT:C40278] synonym: "vaginal malignant mixed mesodermal (Müllerian) tumour" EXACT OMO:0003005 [] synonym: "vaginal malignant mixed Mullerian tumor" RELATED [DOID:136] synonym: "vaginal malignant mixed Mullerian tumour" RELATED OMO:0003005 [] synonym: "vaginal mixed epithelial and mesenchymal tumor" RELATED [DOID:136] synonym: "vaginal mixed epithelial and mesenchymal tumour" RELATED OMO:0003005 [] xref: DOID:136 {source="MONDO:equivalentTo"} xref: EFO:1000618 {source="MONDO:equivalentTo"} xref: MONDO:0006488 xref: NCIT:C40278 {source="EFO:1000618", source="MONDO:equivalentTo", source="DOID:136"} xref: UMLS:C1519918 {source="MONDO:equivalentTo", source="NCIT:C40278", source="DOID:136"} is_a: MONDO:0037746 {source="NCIT:C40278"} ! malignant vaginal mixed epithelial and mesenchymal neoplasm property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1519924 property_value: exactMatch DOID:136 property_value: exactMatch DOID:136 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519918 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519918 property_value: exactMatch NCIT:C40278 property_value: exactMatch NCIT:C40278 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: excluded_subClassOf MONDO:0015867 {source="DOID:136"} [Term] id: EFO:1000619 name: Vaginal Melanoma def: "A primary malignant neoplasm of the vagina composed of malignant melanocytes." [NCIT:C27394] synonym: "melanoma (disease) of vagina" EXACT [] synonym: "melanoma of the vagina" EXACT [NCIT:C27394] synonym: "melanoma of vagina" EXACT [NCIT:C27394] synonym: "mucosal melanoma of the vulva/vagina" BROAD [ONCOTREE:VMM] synonym: "vagina melanoma" EXACT [] synonym: "vagina melanoma (disease)" EXACT [MONDO:patterns/location] synonym: "vaginal melanoma" EXACT [] {comment="preferred label from MONDO"} synonym: "vaginal melanoma" EXACT [NCIT:C27394] synonym: "vaginal melanoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:1000619 {source="MONDO:equivalentTo"} xref: MONDO:0006489 xref: NCIT:C27394 {source="EFO:1000619", source="ONCOTREE:VMM", source="MONDO:equivalentTo"} xref: NCIT:C27394 {source="DesignPattern", source="EFO:1000619", source="ONCOTREE:VMM", source="MONDO:equivalentTo"} xref: ONCOTREE:VMM {source="MONDO:equivalentTo"} xref: UMLS:C2004576 {source="ONCOTREE:VMM", source="MONDO:equivalentTo", source="NCIT:C27394"} is_a: EFO:1001447 {source="MONDO:Redundant", source="NCIT:C27394/inferred"} ! Vaginal neoplasm is_a: MONDO:0000544 {source="NCIT:C27394"} ! mucosal melanoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2004576 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2004576 property_value: exactMatch NCIT:C27394 property_value: exactMatch NCIT:C27394 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/melanoma.yaml [Term] id: EFO:1000620 name: Vaginal Squamous Cell Carcinoma def: "A squamous cell carcinoma arising from the vagina. Human papillomavirus infection is associated with the development of vaginal intraepithelial neoplasia and invasive squamous cell carcinoma. Signs and symptoms include painless bleeding, postcoital bleeding, and urinary tract symptoms. Morphologically it resembles squamous cell carcinomas in other anatomic sites. Radiation therapy is the preferred treatment for most cases. The prognosis is related to the stage of the disease." [NCIT:P378] synonym: "carcinoma of vagina squamous cell" EXACT [MONDO:patterns/carcinoma] synonym: "epidermoid carcinoma of the vagina" EXACT [NCIT:C7736] synonym: "epidermoid carcinoma of vagina" EXACT [NCIT:C7736] synonym: "epidermoid cell carcinoma of the vagina" EXACT [NCIT:C7736] synonym: "epidermoid cell carcinoma of vagina" EXACT [NCIT:C7736] synonym: "squamous cell carcinoma of the vagina" EXACT [NCIT:C7736] synonym: "squamous cell carcinoma of the vulva/vagina" RELATED [ONCOTREE:VSC] synonym: "squamous cell carcinoma of vagina" EXACT [NCIT:C7736] synonym: "vagina epidermoid carcinoma" EXACT [NCIT:C7736] synonym: "vagina epidermoid cell carcinoma" EXACT [NCIT:C7736] synonym: "vagina squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C7736] synonym: "vaginal epidermoid carcinoma" EXACT [NCIT:C7736] synonym: "vaginal epidermoid cell carcinoma" EXACT [NCIT:C7736] synonym: "vaginal squamous cell cancer" EXACT [NCIT:C7736] synonym: "vaginal squamous cell cancer, NOS" EXACT [NCIT:C7736] synonym: "vaginal squamous cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "vaginal squamous cell carcinoma" EXACT [NCIT:C7736] synonym: "vaginal squamous cell carcinoma" EXACT [] {comment="preferred label from MONDO"} xref: EFO:1000620 {source="MONDO:equivalentTo"} xref: MONDO:0006490 xref: NCIT:C180915 {source="MONDO:equivalentTo"} xref: NCIT:C7736 {source="MONDO:equivalentTo", source="EFO:1000620"} xref: NCIT:C7736 {source="DesignPattern", source="MONDO:equivalentTo", source="EFO:1000620"} xref: ONCOTREE:VSC {source="MONDO:equivalentTo"} xref: SCTID:105121000119102 {source="MONDO:equivalentTo"} xref: UMLS:C0238518 {source="MONDO:equivalentTo", source="NCIT:C7736"} is_a: EFO:0000707 {source="EFO:1000620", source="MONDO:Redundant", source="NCIT:C7736"} ! squamous cell carcinoma is_a: MONDO:0001806 {source="MONDO:Redundant", source="NCIT:C7736"} ! vaginal squamous tumor is_a: MONDO:0015867 {source="MONDO:Redundant", source="NCIT:C7736"} ! vaginal carcinoma property_value: exactMatch http://identifiers.org/snomedct/105121000119102 property_value: exactMatch http://identifiers.org/snomedct/105121000119102 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238518 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238518 property_value: exactMatch NCIT:C180915 property_value: exactMatch NCIT:C7736 property_value: exactMatch NCIT:C7736 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/squamous_cell_carcinoma.yaml [Term] id: EFO:1000621 name: Vagus Nerve Paraganglioma def: "A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia." [] xref: NCIt:C8427 is_a: EFO:1000453 ! Paraganglioma [Term] id: EFO:1000622 name: VIP-Producing Neuroendocrine Tumor def: "An often clinically aggressive neuroendocrine tumor located in the pancreas or small intestine. It is composed of cells containing vasoactive intestinal peptide. It may cause intractable diarrhea and metabolic disturbances." [] xref: NCIt:C26749 is_a: EFO:0009605 ! pancreas disease is_a: EFO:0010282 ! gastrointestinal disease is_a: EFO:1001901 ! neuroendocrine neoplasm property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1000623 name: Vulvar Lichen Sclerosus def: "A chronic inflammatory disorder of unknown etiology that affects the vulva. It is characterized by the development of white elevated plaques in the vulva. Histologically there is marked subepithelial fibrosis. Clinical manifestations include pruritus, dysuria, and dyspareunia." [NCIT:C27723] synonym: "lichen sclerosus et atrophicus of mammalian vulva" EXACT [MONDO:design_pattern] synonym: "mammalian vulva lichen sclerosus et atrophicus" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "vulvar lichen sclerosus" EXACT [] {comment="preferred label from MONDO"} synonym: "vulvar lichen sclerosus" EXACT [NCIT:C27723] xref: MESH:D007724 {source="MONDO:equivalentTo"} xref: MONDO:0006491 xref: NCIT:C27723 {source="MONDO:equivalentTo", source="EFO:1000623"} xref: NCIt:C27723 xref: UMLS:C0022783 {source="MONDO:equivalentTo", source="NCIT:C27723"} is_a: MONDO:0001938 {source="NCIT:C27723"} ! vulvar dystrophy is_a: MONDO:0007899 {source="MONDO:Redundant", source="NCIT:C27723"} ! lichen sclerosus et atrophicus property_value: exactMatch http://identifiers.org/mesh/D007724 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022783 property_value: exactMatch NCIT:C27723 [Term] id: EFO:1000624 name: Vulvar Squamous Cell Carcinoma def: "An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003)" [NCIT:C4052] synonym: "epidermoid carcinoma of the vulva" EXACT [NCIT:C4052] synonym: "epidermoid carcinoma of vulva" EXACT [NCIT:C4052] synonym: "epidermoid cell carcinoma of the vulva" EXACT [NCIT:C4052] synonym: "epidermoid cell carcinoma of vulva" EXACT [NCIT:C4052] synonym: "mammalian vulva squamous cell carcinoma" EXACT [MONDO:patterns/location] synonym: "squamous cell carcinoma of the vulva" EXACT [NCIT:C4052] synonym: "squamous cell carcinoma of vulva" EXACT [DOID:2101, NCIT:C4052] synonym: "vulva epidermoid carcinoma" EXACT [NCIT:C4052] synonym: "vulva epidermoid cell carcinoma" EXACT [NCIT:C4052] synonym: "vulva squamous cell carcinoma" EXACT [MONDO:0002210, NCIT:C4052] synonym: "vulvar epidermoid carcinoma" EXACT [DOID:2101, NCIT:C4052] synonym: "vulvar epidermoid cell carcinoma" EXACT [NCIT:C4052] synonym: "vulvar squamous cell cancer" EXACT [NCIT:C4052] synonym: "vulvar squamous cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "vulvar squamous cell carcinoma" EXACT [DOID:2101, MONDO:0006492, NCIT:C4052] synonym: "vulvar squamous cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: DOID:2101 {source="MONDO:equivalentTo"} xref: EFO:1000624 {source="MONDO:equivalentTo"} xref: MONDO:0024609 xref: NCIT:C4052 {source="DOID:2101", source="MONDO:equivalentTo", source="EFO:1000624"} xref: Orphanet:494448 {source="MONDO:equivalentTo"} xref: SCTID:254895003 {source="DOID:2101", source="MONDO:equivalentTo"} xref: UMLS:C0280856 {source="NCIT:C4052", source="DOID:2101", source="MONDO:equivalentTo"} is_a: EFO:0000707 {source="DOID:2101", source="EFO:1000624", source="MONDO:Redundant", source="NCIT:C4052"} ! squamous cell carcinoma is_a: EFO:0002921 {source="DOID:2101", source="EFO:1000624", source="MONDO:Redundant", source="NCIT:C4052", source="Orphanet:494448"} ! vulvar carcinoma is_a: MONDO:0002195 {source="MONDO:Redundant", source="NCIT:C4052"} ! vulvar squamous neoplasm property_value: exactMatch DOID:2101 property_value: exactMatch DOID:2101 property_value: exactMatch http://identifiers.org/snomedct/254895003 property_value: exactMatch http://identifiers.org/snomedct/254895003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280856 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280856 property_value: exactMatch NCIT:C4052 property_value: exactMatch NCIT:C4052 property_value: exactMatch Orphanet:494448 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/squamous_cell_carcinoma.yaml [Term] id: EFO:1000625 name: Warthin Tumor def: "An adenoma characterized by an oncocytic, often papillary, epithelial component, dense lymphoid stroma, and cystic spaces. It occurs primarily in the parotid gland, and is the second most common benign parotid salivary gland tumor. A strong association with smoking has been reported. It typically presents as a painless swelling in the lower portion of the parotid gland." [NCIT:C2854] subset: gard_rare {source="GARD:0008569"} synonym: "adenolymphoma" EXACT [NCIT:C2854] synonym: "papillary cystadenoma lymphomatosum" RELATED [NCIT:C2854] synonym: "papillary cystadenoma lymphomatosum (formerly)" RELATED DEPRECATED [GARD:0008569] synonym: "Warthin tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "Warthin tumor" EXACT [NCIT:C2854] synonym: "Warthin tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "Warthin's tumor" EXACT [NCIT:C2854] synonym: "Warthin's tumour" EXACT OMO:0003005 [] xref: EFO:1000625 {source="MONDO:equivalentTo"} xref: GARD:0008569 {source="MONDO:equivalentTo"} xref: ICDO:8561/0 {source="NCIT:C2854"} xref: MESH:D000235 {source="MONDO:equivalentTo"} xref: MONDO:0006493 xref: NCIT:C2854 {source="MONDO:equivalentTo", source="EFO:1000625", source="exact-label-match"} xref: NCIT:C2854 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000625"} xref: SCTID:422470007 {source="MONDO:equivalentTo"} xref: UMLS:C0001429 {source="MONDO:equivalentTo", source="NCIT:C2854"} is_a: EFO:1000217 ! Digestive System Adenoma is_a: MONDO:0021460 {source="NCIT:C2854"} ! benign neoplasm of salivary gland is_a: MONDO:0036976 {source="MONDO:Redundant", source="NCIT:C2854"} ! benign epithelial neoplasm property_value: exactMatch http://identifiers.org/mesh/D000235 property_value: exactMatch http://identifiers.org/mesh/D000235 property_value: exactMatch http://identifiers.org/snomedct/422470007 property_value: exactMatch http://identifiers.org/snomedct/422470007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001429 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001429 property_value: exactMatch NCIT:C2854 property_value: exactMatch NCIT:C2854 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8569/warthin-tumor xsd:anyURI {source="GARD:0008569"} [Term] id: EFO:1000626 name: obsolete_Wilms tumor (bis) property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.65" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : EFO_1000056 label : Wilms tumor" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_1000056 [Term] id: EFO:1000627 name: thyroid disease def: "A disease involving the thyroid gland." [https://orcid.org/0000-0002-6601-2165] def: "A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." [] synonym: "disease of thyroid gland" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of thyroid gland" EXACT [] synonym: "disorder of thyroid gland" EXACT [MONDO:patterns/location_top] synonym: "thyroid disease" EXACT [MONDO:0006494] synonym: "thyroid gland disease" EXACT [MONDO:patterns/location, NCIT:C26893] synonym: "thyroid gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "thyroid gland diseases" EXACT [NCIT:C26893] synonym: "thyroid gland disorder" EXACT [NCIT:C26893] synonym: "thyroid gland disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "thyroid gland disorders" EXACT [NCIT:C26893] synonym: "Thyroiditis" EXACT [] xref: DOID:50 {source="MONDO:equivalentTo"} xref: ICD10:E06 xref: ICD10:E07 xref: ICD10CM:E00-E07 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="DOID:50", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:240-246.99 {source="DOID:50"} xref: ICD9:246.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:246.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:50"} xref: MedDRA:10043778 xref: MedDRA:10043785 xref: MESH:D013959 {source="MONDO:equivalentTo", source="DOID:50"} xref: MONDO:0003240 xref: NCIT:C26893 {source="MONDO:equivalentTo", source="DOID:50"} xref: SCTID:14304000 {source="MONDO:equivalentTo", source="DOID:50"} xref: UMLS:C0040128 {source="NCIT:C26893", source="MONDO:equivalentTo", source="DOID:50"} xref: Wikipedia:Thyroid_disease {source="EFO:1000627"} is_a: EFO:0001379 {source="DOID:50", source="MESH:D013959", source="MONDO:Redundant"} ! endocrine system disease property_value: exactMatch DOID:50 property_value: exactMatch http://identifiers.org/mesh/D013959 property_value: exactMatch http://identifiers.org/snomedct/14304000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040128 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E00-E07 property_value: exactMatch NCIT:C26893 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000630 name: marginal zone B-cell lymphoma def: "A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood." [NCIT:C4341] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:300912"} synonym: "lymphoma of marginal zone B cell" EXACT [MONDO:design_pattern] synonym: "marginal zone B cell lymphoma" EXACT [MONDO:patterns/location] synonym: "marginal zone B-cell lymphoma" EXACT [MONDO:0006495, NCIT:C4341] synonym: "marginal zone lymphoma" EXACT [DOID:0050748, NCIT:C4341] synonym: "marginal zone lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "marginal zone lymphoma" EXACT [] {comment="preferred label from MONDO"} synonym: "MZBCL" EXACT ABBREVIATION [NCIT:C4341] synonym: "MZL" EXACT ABBREVIATION [NCIT:C4341] xref: DOID:0050748 {source="MONDO:equivalentTo"} xref: EFO:1000630 {source="MONDO:equivalentTo"} xref: GARD:0013237 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICDO:9699/3 {source="NCIT:C4341"} xref: MONDO:0017604 xref: NCIT:C4341 {source="EFO:1000630", source="MONDO:equivalentTo"} xref: ONCOTREE:MZL {source="MONDO:equivalentTo"} xref: Orphanet:300912 {source="MONDO:equivalentTo"} xref: SCTID:447100004 {source="MONDO:equivalentTo"} xref: UMLS:C1367654 {source="NCIT:C4341", source="MONDO:equivalentTo"} is_a: EFO:0007491 ! spleen cancer is_a: MONDO:0004699 ! gastrointestinal lymphoma is_a: MONDO:0017594 {source="Orphanet:300912"} ! indolent B-cell non-Hodgkin lymphoma property_value: exactMatch DOID:0050748 property_value: exactMatch DOID:0050748 property_value: exactMatch http://identifiers.org/snomedct/447100004 property_value: exactMatch http://identifiers.org/snomedct/447100004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1367654 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1367654 property_value: exactMatch NCIT:C4341 property_value: exactMatch NCIT:C4341 property_value: exactMatch Orphanet:300912 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/lymphoma.yaml [Term] id: EFO:1000631 name: palsy def: "A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)" [MESH:D010243] def: "various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking." [] synonym: "palsy" EXACT [] {comment="preferred label from MONDO"} synonym: "Plegia" EXACT [MESH:D010243] synonym: "Plegias" EXACT [MESH:D010243] xref: ICD10CM:G80-G83 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: MedDRA:10033558 xref: MESH:D010243 {source="MONDO:equivalentTo"} xref: MONDO:0006496 xref: Wikipedia:Palsy {source="EFO:1000631"} is_a: EFO:0009386 {source="EFO:1000631", source="https://github.com/monarch-initiative/mondo/issues/622"} ! central nervous system disease property_value: exactMatch http://identifiers.org/mesh/D010243 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G80-G83 property_value: excluded_subClassOf MONDO:0005071 {source="EFO:1000631", source="MESH:D010243/inferred"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000632 name: cerebral palsy def: "A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain." [NCIT:P378] def: "Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems." [] synonym: "cerebral palsy" EXACT [] {comment="preferred label from MONDO"} synonym: "cerebral paralysis" EXACT [] synonym: "infantile cerebral palsy" EXACT [DOID:1969] xref: CSP:0723-4729 {source="DOID:1969"} xref: DOID:1969 {source="MONDO:equivalentTo"} xref: HP:0100021 {source="MONDO:otherHierarchy", source="EFO:1000632"} xref: ICD10CM:G80 {source="MONDO:equivalentTo", source="DOID:1969"} xref: ICD9:343.8 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:1969"} xref: ICD9:343.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10008129 xref: MESH:D002547 {source="MONDO:equivalentTo", source="DOID:1969"} xref: MONDO:0006497 xref: NCIT:C34460 {source="MONDO:equivalentTo", source="DOID:1969"} xref: SCTID:128188000 {source="MONDO:equivalentTo", source="DOID:1969"} xref: UMLS:C0007789 {source="NCIT:C34460", source="MONDO:equivalentTo", source="DOID:1969"} is_a: EFO:1000631 {source="EFO:1000632"} ! palsy is_a: MONDO:0044996 ! cerebral cortex disorder relationship: EFO:0000784 UBERON:0000956 ! has_disease_location cerebral cortex property_value: exactMatch DOID:1969 property_value: exactMatch http://identifiers.org/mesh/D002547 property_value: exactMatch http://identifiers.org/snomedct/128188000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007789 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G80 property_value: exactMatch NCIT:C34460 property_value: excluded_subClassOf MONDO:0005559 {source="MONDO:Redundant", source="NCIT:C34460"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000633 name: adenomatous colon polyp def: "A polypoid adenoma that arises from and protrudes into the lumen of the colon. Epithelial dysplasia is always present. According to the architectural pattern it is classified as tubular, tubulovillous, or villous." [NCIT:P378] def: "Presence of multiple adenomatous polyps in the colon." [] synonym: "adenomatous colon polyp" EXACT [] {comment="preferred label from MONDO"} synonym: "adenomatous colonic polyposis" EXACT [] synonym: "adenomatous polyp of colon" EXACT [NCIT:C96479] synonym: "adenomatous polyp of the colon" EXACT [NCIT:C96479] synonym: "colon adenomatous polyp" EXACT [NCIT:C96479] synonym: "colonic adenomatous polyp" EXACT [NCIT:C96479] synonym: "multiple adenomatous colon polyps" EXACT [] synonym: "multiple colonic adenomatous polyps" EXACT [] xref: HP:0005227 {source="MONDO:otherHierarchy", source="EFO:1000633"} xref: MONDO:0006498 xref: NCIT:C96479 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:428054006 {source="MONDO:equivalentTo"} is_a: MONDO:0000527 {source="NCIT:C96479"} ! colon adenoma is_a: MONDO:0021400 {source="MONDO:Redundant", source="NCIT:C96479"} ! polyp of colon relationship: EFO:0000784 UBERON:0001155 ! has_disease_location colon property_value: exactMatch http://identifiers.org/snomedct/428054006 property_value: exactMatch NCIT:C96479 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000634 name: hamartoma def: "A benign and excessive tumor-like growth of mature cells and normal tissues which grow in a disorganized pattern." [NCIT:P378] synonym: "hamartoma" EXACT [] {comment="preferred label from MONDO"} synonym: "hamartoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "hamartoma" EXACT [MONDO:ambiguous, NCIT:C3075] synonym: "hamartoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: EFO:1000634 {source="MONDO:equivalentTo"} xref: HP:0010566 {source="MONDO:otherHierarchy", source="EFO:1000634"} xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:759.6 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D006222 {source="MONDO:equivalentTo"} xref: MONDO:0006499 xref: NCIT:C3075 {source="MONDO:equivalentTo"} xref: SCTID:400006008 {source="MONDO:equivalentTo"} xref: UMLS:C0018552 {source="NCIT:C3075", source="MONDO:equivalentTo"} is_a: EFO:0000616 {source="EFO:1000634", source="MESH:D006222"} ! neoplasm property_value: exactMatch http://identifiers.org/mesh/D006222 property_value: exactMatch http://identifiers.org/mesh/D006222 property_value: exactMatch http://identifiers.org/snomedct/400006008 property_value: exactMatch http://identifiers.org/snomedct/400006008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018552 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018552 property_value: exactMatch NCIT:C3075 property_value: exactMatch NCIT:C3075 property_value: IAO:0000589 "hamartoma (disease)" xsd:string [Term] id: EFO:1000635 name: hemangioma def: "A benign vascular lesion characterized by the formation of capillary-sized or cavernous vascular channels." [NCIT:C3085] synonym: "angioma" RELATED [NCIT:C3085] synonym: "benign angioma" RELATED [NCIT:C3085] synonym: "benign hemangioma" EXACT [NCIT:C3085] synonym: "hemangioma" EXACT [] {comment="preferred label from MONDO"} synonym: "hemangioma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "hemangioma" EXACT [NCIT:C3085] synonym: "hemangioma, benign" EXACT [NCIT:C3085] xref: COHD:441818 {source="MONDO:equivalentTo"} xref: DOID:255 {source="MONDO:equivalentTo"} xref: EFO:1000635 {source="MONDO:equivalentTo"} xref: GARD:0010759 {source="MONDO:equivalentTo"} xref: HP:0001028 {source="MONDO:otherHierarchy", source="EFO:1000635"} xref: ICD10:D18.0 {source="DOID:255"} xref: ICD10:D18.00 {source="DOID:255"} xref: ICD9:228.0 {source="DOID:255"} xref: ICD9:228.00 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:255"} xref: ICD9:228.00 {source="MONDO:equivalentTo", source="i2s", source="DOID:255"} xref: ICD9:228.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:228.09 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9120/0 {source="NCIT:C3085"} xref: MESH:D006391 {source="MONDO:equivalentTo", source="DOID:255"} xref: MONDO:0006500 xref: NCIT:C3085 {source="MONDO:equivalentTo", source="DOID:255", source="exact-label-match"} xref: NCIT:C3085 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:255"} xref: ONCOTREE:HEMA {source="MONDO:equivalentTo"} xref: SCTID:400210000 {source="MONDO:equivalentTo", source="DOID:255"} xref: UMLS:C0018916 {source="NCIT:C3085", source="MONDO:equivalentTo", source="DOID:255"} is_a: MONDO:0019063 {source="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4211219"} ! vascular anomaly is_a: MONDO:0024286 {source="MONDO:Redundant", source="NCIT:C3085"} ! benign blood vessel neoplasm is_a: MONDO:0036976 ! benign epithelial neoplasm property_value: closeMatch http://identifiers.org/snomedct/154625006 property_value: closeMatch http://identifiers.org/snomedct/189192007 property_value: closeMatch http://identifiers.org/snomedct/189193002 property_value: closeMatch http://identifiers.org/snomedct/189194008 property_value: closeMatch http://identifiers.org/snomedct/189199003 property_value: closeMatch http://identifiers.org/snomedct/189863005 property_value: closeMatch http://identifiers.org/snomedct/2099007 property_value: closeMatch http://identifiers.org/snomedct/253053003 property_value: closeMatch http://identifiers.org/snomedct/254822005 property_value: closeMatch http://identifiers.org/snomedct/269646001 property_value: closeMatch http://identifiers.org/snomedct/367337005 property_value: closeMatch http://identifiers.org/snomedct/93474003 property_value: exactMatch DOID:255 property_value: exactMatch DOID:255 property_value: exactMatch http://identifiers.org/mesh/D006391 property_value: exactMatch http://identifiers.org/mesh/D006391 property_value: exactMatch http://identifiers.org/snomedct/400210000 property_value: exactMatch http://identifiers.org/snomedct/400210000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018916 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018916 property_value: exactMatch NCIT:C3085 property_value: exactMatch NCIT:C3085 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1000636 name: inflammatory skin disease def: "Inflammatory skin disorders covers a broad category that includes many conditions ranging in severity, from mild itching to grave medical health complications\n\nThese disorders are common in people of all ages and races. They are characterized by irritation and inflammation of the skin. These diseases may sometimes be disfiguring and can cause great discomfort to the affected individual.\n" [] synonym: "inflammatory skin diseases" EXACT [] synonym: "inflammatory skin disorder" EXACT [] synonym: "inflammatory skin disorders" EXACT [] is_a: EFO:0000701 ! skin disease property_value: definition:citation http://www.medindia.net/patients/patientinfo/skindisease-inflammatory-skin-disorders.htm xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000637 name: acute respiratory distress syndrome def: "Progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery. Cases of neonatal respiratory distress syndrome are not included in this definition." [NCIT:C3353] comment: This disease can present as a mild ARDS (PaO2/FiO2 of 201–300 mmHg) moderate ARDS (PaO2/FiO2 of 101–200 mmHg) and severe ARDS (PaO2/FiO2 ≤100 mmHg). [PMID:30872586] subset: gard_rare synonym: "acute lung injury" RELATED [GARD:0005698] synonym: "acute respiratory distress syndrome" EXACT [GARD:0005698] synonym: "acute respiratory distress syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "ALI" RELATED ABBREVIATION [GARD:0005698] synonym: "ARDS" EXACT ABBREVIATION [DOID:11394] synonym: "increased-permeability pulmonary edema" RELATED [GARD:0005698] synonym: "increased-permeability pulmonary oedema" RELATED OMO:0003005 [] synonym: "non-cardiogenic pulmonary edema" RELATED [DOID:11394, GARD:0005698] synonym: "non-cardiogenic pulmonary oedema" RELATED OMO:0003005 [] synonym: "Shock lung" EXACT [] synonym: "shock lung" EXACT [DOID:11394, GARD:0005698] synonym: "Stiff lung" RELATED [GARD:0005698] xref: ICD10CM:J80 {source="MONDO:equivalentTo", source="DOID:11394", source="Orphanet:70578", source="Orphanet:70578/e"} xref: MedDRA:10001052 {source="EFO:1000637"} xref: MeSH:D012128 xref: MONDO:0006502 xref: NCIT:C3353 {source="MONDO:equivalentTo", source="DOID:11394", source="EFO:1000637"} xref: NCIt:C3353 is_a: MONDO:0001208 {source="DOID:11394"} ! acute respiratory failure is_a: MONDO:0002254 {source="NCIT:C3353"} ! syndromic disease is_a: MONDO:0017027 {source="Orphanet:70578"} ! primary interstitial lung disease specific to adulthood property_value: closeMatch http://identifiers.org/meddra/10001052 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/J80 property_value: exactMatch NCIT:C3353 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1000638 name: Isaacs syndrome def: "A neuromuscular disease characterized by sporadic bouts of ataxia with or without continuous muscle movement" [] synonym: "Acquired Neuromyotonia" EXACT [] synonym: "Continuous Muscle Activity Syndrome" EXACT [] synonym: "episodic ataxia" EXACT [] synonym: "Isaacs' syndrome" EXACT [] synonym: "Isaacs-Mertens syndrome" EXACT [] synonym: "Neuromyotonia" EXACT [] synonym: "NMT" EXACT [] synonym: "Pseudomyotonia Syndrome of Isaacs" EXACT [] xref: DOID:963 xref: MedDRA:10072421 xref: MeSH:D020386 xref: Wikipedia:Neuromyotonia is_a: EFO:0000618 ! nervous system disease property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1000639 name: acquired metabolic disease def: "A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption" [] def: "An instance of metabolic disease that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] synonym: "acquired metabolic disease" EXACT [] {comment="preferred label from MONDO"} synonym: "acquired metabolic disease" EXACT [MONDO:patterns/acquired] xref: DOID:0060158 {source="EFO:1000639", source="MONDO:equivalentTo"} xref: MONDO:0006504 is_a: EFO:0000589 {source="DOID:0060158", source="EFO:1000639", source="MONDO:Entailed", source="MONDO:Redundant"} ! metabolic disease intersection_of: EFO:0000589 ! metabolic disease intersection_of: has_characteristic MONDO:0021141 ! acquired relationship: has_characteristic MONDO:0021141 ! acquired property_value: exactMatch DOID:0060158 [Term] id: EFO:1000640 name: basal ganglia cerebrovascular disease def: "A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (BASAL GANGLIA)" [] def: "A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (basal ganglia), such as infarction; hemorrhage; or ischemia in vessels of this brain region including the lateral lenticulostriate arteries. Primary clinical manifestations include involuntary movements (dyskinesias) and muscle weakness (hemiparesis)." [MESH:D020144] synonym: "basal ganglia cerebrovascular disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "cerebrovascular disorder of collection of basal ganglia" EXACT [MONDO:design_pattern] synonym: "collection of basal ganglia cerebrovascular disorder" EXACT [MONDO:patterns/location] xref: DOID:10991 {source="MONDO:equivalentTo", source="EFO:1000640"} xref: MESH:D020144 {source="MONDO:equivalentTo", source="DOID:10991"} xref: MeSH:D020144 xref: MONDO:0006505 xref: UMLS:C0751739 {source="MONDO:equivalentTo", source="DOID:10991"} is_a: EFO:0003763 {source="DOID:10991", source="EFO:1000640", source="MESH:D020144", source="MONDO:Entailed", source="MONDO:Redundant"} ! cerebrovascular disorder is_a: EFO:0009533 {source="DOID:10991", source="MESH:D020144", source="MONDO:Entailed", source="MONDO:Redundant"} ! basal ganglia disease property_value: exactMatch DOID:10991 property_value: exactMatch http://identifiers.org/mesh/D020144 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751739 [Term] id: EFO:1000641 name: congenital nonspherocytic hemolytic anemia def: "Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase." [MESH:D000746] def: "Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. In some cases, pyruvate kinase deficiency has been demonstrated; in other cases, glucose-6-phosphate dehydrogenase deficiency has been demonstrated." [] synonym: "congenital nonspherocytic hemolytic anemia" EXACT [] {comment="preferred label from MONDO"} synonym: "hereditary nonspherocytic hemolytic anaemia" EXACT OMO:0003005 [] synonym: "hereditary nonspherocytic hemolytic anemia" EXACT [DOID:2861] synonym: "HNSHA" EXACT ABBREVIATION [DOID:2861] xref: DOID:2861 {source="EFO:1000641", source="MONDO:equivalentTo"} xref: ICD9:282.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D000746 {source="DOID:2861", source="MONDO:equivalentTo"} xref: MONDO:0006506 xref: SCTID:301317008 {source="DOID:2861", source="MONDO:equivalentTo"} xref: UMLS:C0002882 {source="DOID:2861", source="MONDO:equivalentTo"} is_a: MONDO:0000577 ! congenital anemia is_a: MONDO:0003689 {xref="https://github.com/monarch-initiative/mondo/issues/1503", xref="https://orcid.org/0000-0001-6330-7526"} ! familial hemolytic anemia is_a: MONDO:0019050 {source="EFO:1000641"} ! inherited hemoglobinopathy is_a: Orphanet:183651 ! Rare constitutional anemia property_value: exactMatch DOID:2861 property_value: exactMatch http://identifiers.org/mesh/D000746 property_value: exactMatch http://identifiers.org/snomedct/301317008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002882 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: EFO:1000642 name: hemochromatosis def: "A disorder of iron metabolism characterized by a triad of HEMOSIDEROSIS; LIVER CIRRHOSIS; and DIABETES MELLITUS. It is caused by massive iron deposits in parenchymal cells that may develop after a prolonged increase of iron absorption." [] xref: DOID:2352 xref: MedDRA:10019478 xref: MeSH:D006432 is_a: EFO:0000589 ! metabolic disease [Term] id: EFO:1000643 name: infantile epileptic encephalopathy def: "an epileptic condition characterized by epileptiform abnormalities associated with progressive cerebral dysfunction. In the classification of the International League Against Epilepsy eight age-related epileptic encephalopathy syndromes are recognized." [] xref: DOID:2481 xref: MeSH:D013036 xref: OMIM:617711 is_a: EFO:0000474 ! epilepsy [Term] id: EFO:1000644 name: newborn respiratory distress syndrome def: "A condition beginning in the first day of life that results from inadequate surfactant production, causing increased work of breathing and impaired gas exchange." [SCTID:46775006] def: "A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts" [] def: "A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts." [] synonym: "HMD - Hyaline membrane disease" EXACT [] synonym: "HMD - hyaline membrane disease" EXACT [DOID:12716] synonym: "Hyaline Membrane Disease" EXACT [] synonym: "hyaline membrane disease" EXACT [DOID:12716, Orphanet:70587] synonym: "infant acute respiratory distress syndrome" EXACT [Orphanet:70587] synonym: "infant ARDS" EXACT [Orphanet:70587] synonym: "infant respiratory distress syndrome" EXACT [Orphanet:70587] synonym: "neonatal respiratory distress" EXACT [NCIT:C27560] synonym: "Neonatal respiratory Distress syndrome" EXACT [] synonym: "neonatal respiratory distress syndrome" EXACT [DOID:12716, GARD:0000112, NCIT:C27560, Orphanet:70587] synonym: "newborn respiratory distress syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "newborns (RDS), respiratory distress syndrome Of" EXACT [NCIT:C27560] synonym: "NRDS" RELATED ABBREVIATION [GARD:0000112] synonym: "pulmonary hyaline membrane disease" EXACT [DOID:12716] synonym: "pulmonary hypoperfusion syndrome of newborn" EXACT [DOID:12716] synonym: "RDS" BROAD ABBREVIATION [NCIT:C27560] synonym: "RDS - infants" RELATED [GARD:0000112] synonym: "RDS Of newborns" EXACT [NCIT:C27560] synonym: "RDS of prematurity" NARROW [OMIM:267450] synonym: "RDS, respiratory distress syndrome Of newborns" EXACT [NCIT:C27560] synonym: "respiratory distress syndrome" BROAD [NCIT:C27560] synonym: "respiratory distress syndrome in premature infants" NARROW [OMIM:267450] synonym: "respiratory distress syndrome in the newborn" EXACT [NCIT:C27560] synonym: "respiratory distress syndrome of newborn" EXACT [DOID:12716] synonym: "respiratory distress syndrome Of newborns" EXACT [NCIT:C27560] synonym: "respiratory distress syndrome Of newborns (RDS)" EXACT [NCIT:C27560] synonym: "respiratory distress syndrome, infant" RELATED [GARD:0000112] synonym: "syndrome Of newborns (RDS), respiratory distress" EXACT [NCIT:C27560] xref: DOID:12716 {source="MONDO:equivalentTo", source="EFO:1000644"} xref: ICD9:769 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MeSH:D006819 xref: MONDO:0700081 xref: NCIT:C27560 {source="MONDO:equivalentTo"} xref: OMIM:267450 xref: SCTID:46775006 {source="MONDO:equivalentTo", source="DOID:12716"} xref: UMLS:C0020192 {source="MONDO:equivalentTo", source="Orphanet:70587", source="DOID:12716"} xref: UMLS:C0035220 {source="NCIT:C27560", source="MONDO:equivalentTo", source="Orphanet:70587"} is_a: EFO:0010238 ! perinatal disease is_a: MONDO:0017015 {source="Orphanet:70587"} ! primary interstitial lung disease specific to childhood is_a: MONDO:0100131 {source="https://orcid.org/0000-0002-4142-7153"} ! pediatric acute respiratory distress syndrome property_value: exactMatch DOID:12716 property_value: exactMatch http://identifiers.org/snomedct/46775006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020192 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035220 property_value: exactMatch NCIT:C27560 property_value: excluded_subClassOf MONDO:0001208 {source="DOID:12716"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5005 xsd:anyURI [Term] id: EFO:1000645 name: orthostatic intolerance def: "A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart ." [] def: "A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart." [EFO:1000645] subset: ordo_disease {source="Orphanet:443236"} synonym: "familial orthostatic tachycardia due to norepinephrine transporter deficiency" EXACT [DOID:0111154, Orphanet:443236] synonym: "irritable heart" EXACT [DOID:0111154] synonym: "neurocirculatory asthenia" RELATED [DOID:0111154, OMIM:604715] synonym: "orhtostatic intolerance" EXACT [DOID:0111154] synonym: "orthostatic intolerance" RELATED [OMIM:604715] synonym: "orthostatic intolerance due to NET deficiency" EXACT [DOID:0111154, Orphanet:443236] synonym: "postural orthostatic tachycardia syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "postural tachycardia syndrome due to NET deficiency" EXACT [DOID:0111154, Orphanet:443236] synonym: "POTS" EXACT ABBREVIATION [https://orcid.org/0000-0002-9353-5498] synonym: "Soldiers heart" RELATED [OMIM:604715] synonym: "soldiers heart" EXACT [DOID:0111154] xref: DOID:0111154 {source="MONDO:equivalentTo"} xref: MedDRA:10063927 xref: MESH:D054972 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: MONDO:0011479 xref: NCIT:C85020 {source="MONDO:equivalentTo"} xref: OMIM:604715 {source="Orphanet:443236", source="MONDO:equivalentTo", source="EFO:1000645", source="DOID:0111154", source="Orphanet:443236/e"} xref: Orphanet:443236 {source="MONDO:equivalentTo", source="DOID:0111154"} xref: SCTID:8074002 {source="MONDO:equivalentTo"} is_a: MONDO:0000992 {source="DOID:0111154"} ! heart conduction disease is_a: MONDO:0015914 {source="Orphanet:443236"} ! primary orthostatic hypotension property_value: exactMatch DOID:0111154 property_value: exactMatch http://identifiers.org/mesh/D054972 property_value: exactMatch http://identifiers.org/snomedct/8074002 property_value: exactMatch https://omim.org/entry/604715 property_value: exactMatch NCIT:C85020 property_value: exactMatch Orphanet:443236 property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/7613 xsd:anyURI [Term] id: EFO:1000646 name: papillary carcinoma def: "A malignant epithelial neoplasm characterized by a papillary growth pattern. A papillary carcinoma may be composed of glandular cells (papillary adenocarcinoma), squamous cells (papillary squamous cell carcinoma), or transitional cells (papillary transitional cell carcinoma). Bladder carcinoma is a representative example of papillary transitional cell carcinoma." [NCIT:C2927] synonym: "papillary carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "papillary carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "papillary carcinoma" EXACT [DOID:3113, NCIT:C2927] synonym: "papillary carcinoma (morphologic abnormality)" EXACT [DOID:3113] synonym: "papillary carcinoma NOS (morphologic abnormality)" EXACT [DOID:3113] xref: DOID:3113 {source="MONDO:equivalentTo", source="EFO:1000646"} xref: EFO:1000646 {source="MONDO:equivalentTo"} xref: ICDO:8050/3 {source="NCIT:C2927"} xref: MESH:D002291 {source="DOID:3113", source="MONDO:equivalentTo"} xref: MONDO:0006509 xref: NCIT:C2927 {source="DOID:3113", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000646"} xref: NCIT:C2927 {source="DOID:3113", source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000646"} xref: UMLS:C0007133 {source="DOID:3113", source="NCIT:C2927", source="MONDO:equivalentTo"} is_a: EFO:0000313 {source="DOID:3113", source="MESH:D002291", source="NCIT:C2927"} ! carcinoma is_a: MONDO:0021096 {source="NCIT:C2927"} ! papillary epithelial neoplasm property_value: closeMatch http://identifiers.org/snomedct/189562005 property_value: closeMatch http://identifiers.org/snomedct/25910003 property_value: exactMatch DOID:3113 property_value: exactMatch DOID:3113 property_value: exactMatch http://identifiers.org/mesh/D002291 property_value: exactMatch http://identifiers.org/mesh/D002291 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007133 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007133 property_value: exactMatch NCIT:C2927 property_value: exactMatch NCIT:C2927 [Term] id: EFO:1000647 name: renal tubular transport disease def: "Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES." [] def: "Genetic defects in the selective or non-selective transport functions of the kidney tubules." [MESH:D015499] synonym: "disorder of renal absorption" EXACT [MONDO:patterns/basis_in_disruption_of_process] synonym: "inborn renal tubular transport disorder" EXACT [DOID:447] synonym: "kidney tubular transport, inborn error" RELATED [MESH:D015499] synonym: "kidney tubular transport, inborn errors" RELATED [MESH:D015499] synonym: "renal absorption disease" EXACT [MONDO:design_pattern] synonym: "renal tubular transport disease" EXACT [] {comment="preferred label from MONDO"} synonym: "renal tubular transport errors" RELATED [MESH:D015499] synonym: "renal tubular transport, inborn error" RELATED [MESH:D015499] xref: DOID:447 {source="MONDO:equivalentTo", source="EFO:1000647"} xref: MESH:D015499 {source="DOID:447", source="MONDO:equivalentTo"} xref: MONDO:0006510 xref: UMLS:C0035091 {source="DOID:447", source="MONDO:equivalentTo"} is_a: EFO:0003086 {source="DOID:447", source="EFO:1000647", source="MESH:D015499", source="MONDO:Redundant", source="MONDO:indirect"} ! kidney disease relationship: EFO:0000784 UBERON:0002113 ! has_disease_location kidney property_value: exactMatch DOID:447 property_value: exactMatch http://identifiers.org/mesh/D015499 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035091 property_value: excluded_subClassOf MONDO:0019052 {source="MESH:D015499"} [Term] id: EFO:1000648 name: developmental dysplasia of the hip def: "A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation." [NCIT:P378] synonym: "congenital acetabular dysplasia" RELATED [MONDO:cjm] synonym: "congenital dislocation of hip" EXACT [] synonym: "congenital dysplasia of the hip" RELATED [MONDO:cjm] synonym: "congenital hip dysplasia" EXACT [MONDO:cjm] synonym: "DDH" EXACT [] synonym: "developmental dislocation of hip" EXACT [] synonym: "developmental dysplasia of the hip" EXACT [] {comment="preferred label from MONDO"} synonym: "dysplasia of acetabulum" RELATED [MONDO:cjm] xref: ICD10:Q65 xref: ICD9:755.63 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D000082602 {source="MONDO:equivalentTo"} xref: MONDO:0000158 xref: NCIt:C119752 xref: OMIMPS:142700 {source="MONDO:equivalentTo"} xref: SCTID:52781008 {source="MONDO:equivalentTo"} xref: UMLS:C1840555 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0005541 {source="EFO:1000648"} ! bone development disease relationship: EFO:0000784 UBERON:0001464 ! has_disease_location hip property_value: exactMatch http://identifiers.org/mesh/D000082602 property_value: exactMatch http://identifiers.org/snomedct/52781008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840555 property_value: exactMatch https://omim.org/phenotypicSeries/PS142700 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1000649 name: estrogen-receptor positive breast cancer def: "A subtype of breast cancer that is estrogen-receptor positive" [EFO:1000649] synonym: "ER+ breast cancer" EXACT [] synonym: "estrogen receptor positive breast cancer" EXACT [] synonym: "estrogen-receptor positive breast cancer" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "estrogen-receptor positive breast cancer" EXACT [] {comment="preferred label from MONDO"} synonym: "oestrogen receptor positive breast cancer" EXACT OMO:0003005 [] xref: DOID:0060075 {source="MONDO:equivalentTo"} xref: EFO:1000649 {source="MONDO:equivalentTo"} xref: MONDO:0006512 is_a: EFO:1000143 {source="https://orcid.org/0000-0002-4142-7153"} ! Breast Carcinoma by Gene Expression Profile property_value: exactMatch DOID:0060075 property_value: exactMatch DOID:0060075 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1000650 name: estrogen-receptor negative breast cancer def: "A subtype of breast cancer that is estrogen-receptor negative" [EFO:1000650] synonym: "ER- breast cancer" EXACT [] synonym: "estrogen-receptor negative breast cancer" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "estrogen-receptor negative breast cancer" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0060076 {source="MONDO:equivalentTo"} xref: EFO:1000650 {source="MONDO:equivalentTo"} xref: MONDO:0006513 is_a: EFO:1000143 {source="https://orcid.org/0000-0002-4142-7153"} ! Breast Carcinoma by Gene Expression Profile property_value: exactMatch DOID:0060076 property_value: exactMatch DOID:0060076 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1000651 name: recalcitrant atopic dermatitis def: "moderate to severe atopic dermatitis with allergic sensitisation" [] def: "Moderate to severe atopic dermatitis with allergic sensitisation." [EFO:1000651] comment: Reason of obsoletion: out of scope - MONDO:excludeClinicalModifier. Term to consider: atopic eczema'-MONDO:0004980 subset: obsoletion_candidate synonym: "recalcitrant atopic dermatitis" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0006514 xref: PMID:25935106 {source="EFO:1000651"} is_a: EFO:0000274 {source="EFO:1000651"} ! atopic eczema property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5854 xsd:anyURI property_value: IAO:0006012 "2023-04-01" xsd:string [Term] id: EFO:1000652 name: acute pancreatitis def: "a sudden inflammation of the pancreas. It can have severe complications and high mortality despite treatment. While mild cases are often successfully treated with conservative measures, such as fasting and aggressive intravenous fluid rehydration, severe cases may require admission to the intensive care unit or even surgery to deal with complications of the disease process." [] def: "An acute inflammatory process that leads to necrosis of the pancreatic parenchyma. Signs and symptoms include severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock. Causes include alcohol consumption, presence of gallstones, trauma, and drugs." [NCIT:P378] synonym: "acute pancreatic necrosis" EXACT [] synonym: "acute pancreatitis" EXACT [] {comment="preferred label from MONDO"} synonym: "acute pancreatitis (disorder) [ambiguous]" EXACT [DOID:2913] synonym: "pancreatitis, acute" EXACT [MONDO:patterns/acute] xref: DOID:2913 {source="MONDO:equivalentTo"} xref: HP:0001735 {source="EFO:1000652", source="MONDO:otherHierarchy"} xref: ICD10:K85 xref: ICD9:577.0 {source="DOID:2913"} xref: MedDRA:10000971 xref: MONDO:0006515 xref: NCIT:C95437 {source="MONDO:equivalentTo", source="DOID:2913"} xref: SCTID:7881005 {source="MONDO:equivalentTo"} xref: UMLS:C0001339 {source="NCIT:C95437", source="MONDO:equivalentTo", source="DOID:2913"} xref: UMLS:C0267941 {source="MONDO:equivalentTo"} xref: Wikipedia:Acute_pancreatitis {source="EFO:1000652"} is_a: EFO:0000278 {source="DOID:2913", source="EFO:1000652", source="MESH:D019283", source="MONDO:Redundant", source="NCIT:C95437"} ! pancreatitis is_a: MONDO:0020683 ! acute disease relationship: RO:0002200 HP:0011009 ! has phenotype Acute property_value: exactMatch DOID:2913 property_value: exactMatch http://identifiers.org/snomedct/7881005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001339 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267941 property_value: exactMatch NCIT:C95437 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000653 name: sarcopenia def: "Progressive decline in muscle mass due to aging which results in decreased functional capacity of muscles." [] synonym: "sarcopenias" EXACT [] xref: MedDRA:10063024 xref: MeSH:D055948 is_a: EFO:0002970 ! muscular disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000654 name: childhood cancer def: "A malignant tumor that occurs in children. Representative examples include soft tissue and bone sarcomas (e.g. osteosarcoma) and embryonal neoplasms (e.g. hepatoblastoma and rhabdoid tumor)." [NCIT:C4005] synonym: "childhood cancer" EXACT [NCIT:C4005] synonym: "childhood malignant neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "childhood malignant neoplasm" EXACT [NCIT:C4005] synonym: "childhood malignant neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "childhood neoplasm, malignant" EXACT [MONDO:patterns/malignant] synonym: "malignant childhood neoplasm" EXACT [NCIT:C4005] synonym: "malignant childhood tumor" EXACT [NCIT:C4005] synonym: "malignant childhood tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm" NARROW [NCIT:C4005] synonym: "malignant paediatric neoplasm" EXACT OMO:0003005 [] synonym: "malignant paediatric tumour" EXACT OMO:0003005 [] synonym: "malignant pediatric neoplasm" EXACT [NCIT:C4005] synonym: "malignant pediatric tumor" EXACT [NCIT:C4005] synonym: "paediatric cancer" EXACT OMO:0003005 [] synonym: "pediatric cancer" EXACT [NCIT:C4005] xref: EFO:1000654 {source="MONDO:equivalentTo"} xref: MONDO:0006517 xref: NCIT:C4005 {source="MONDO:equivalentTo"} xref: UMLS:C0278704 {source="MONDO:equivalentTo", source="NCIT:C4005"} is_a: MONDO:0004992 {source="EFO:1000654", source="MONDO:Redundant", source="NCIT:C4005"} ! cancer is_a: MONDO:0021079 {source="MONDO:Redundant", source="NCIT:C4005"} ! childhood neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278704 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278704 property_value: exactMatch NCIT:C4005 property_value: exactMatch NCIT:C4005 [Term] id: EFO:1000656 name: sporadic Creutzfeld Jacob disease def: "Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common type of CJD, accounting for around 85% of cases. The precise cause of sporadic CJD is unclear, but it's been suggested that a normal brain protein changes abnormally ('misfolds') and turns into a prion. Most cases of sporadic CJD occur in adults aged between 45 and 75. On average, symptoms develop at age 60-65 years." [EFO:1000656] synonym: "sporadic Creutzfeld Jacob disease" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0006518 is_a: EFO:0004226 {source="EFO:1000656"} ! Creutzfeldt Jacob Disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1000657 name: rectum cancer def: "A primary or metastatic malignant neoplasm that affects the rectum. Representative examples include carcinoma, lymphoma, and sarcoma." [NCIT:C7418] synonym: "cancer of rectum" EXACT [DOID:1993, MONDO:patterns/cancer] synonym: "carcinoma of rectum" BROAD [DOID:1993] synonym: "carcinoma of rectum" EXACT [DOID:1993] synonym: "carcinoma of the rectum" BROAD [DOID:1993, NCIT:C9382] synonym: "carcinoma of the rectum" EXACT [DOID:1993, NCIT:C9382] synonym: "malignant neoplasm of rectum" EXACT [DOID:1993, ICD9CM:154.1, MONDO:patterns/cancer, NCIT:C7418] synonym: "malignant neoplasm of rectum" EXACT [DOID:1993, ICD9CM_2006:154.1, MONDO:patterns/cancer, NCIT:C7418] synonym: "malignant neoplasm of the rectum" EXACT [NCIT:C7418] synonym: "malignant rectal neoplasm" EXACT [NCIT:C7418] synonym: "malignant rectal tumor" EXACT [DOID:1993, NCIT:C7418] synonym: "malignant rectal tumour" EXACT OMO:0003005 [] synonym: "malignant rectum neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant rectum tumor" EXACT [DOID:1993] synonym: "malignant rectum tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of rectum" EXACT [NCIT:C7418] synonym: "malignant tumor of the rectum" EXACT [NCIT:C7418] synonym: "malignant tumour of rectum" EXACT OMO:0003005 [] synonym: "malignant tumour of the rectum" EXACT OMO:0003005 [] synonym: "rectal cancer" EXACT [DOID:1993] synonym: "rectal cancer" EXACT [] {comment="preferred label from MONDO"} synonym: "rectal cancer" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "rectum cancer" EXACT [MONDO:patterns/location] xref: DOID:1993 {source="MONDO:equivalentTo", source="EFO:1000657"} xref: EFO:1000657 {source="MONDO:equivalentTo"} xref: ICD10:C20 {source="DOID:1993"} xref: ICD9:154.1 {source="DOID:1993", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:154.1 {source="DOID:1993", source="MONDO:equivalentTo", source="i2s"} xref: MedDRA:10038038 xref: MONDO:0006519 xref: NCIT:C7418 {source="DOID:1993", source="MONDO:equivalentTo"} xref: SCTID:363351006 {source="DOID:1993", source="MONDO:equivalentTo"} is_a: MONDO:0002165 {source="MONDO:Redundant", source="NCIT:C7418"} ! rectal neoplasm is_a: MONDO:0005575 {source="DOID:1993", source="DOID:1993/inferred", source="EFO:1000657", source="MONDO:Redundant", source="NCIT:C7418"} ! colorectal cancer relationship: EFO:0000784 UBERON:0001052 ! has_disease_location rectum property_value: closeMatch http://identifiers.org/snomedct/154466004 property_value: closeMatch http://identifiers.org/snomedct/187761007 property_value: closeMatch http://identifiers.org/snomedct/269545009 property_value: closeMatch http://identifiers.org/snomedct/93984006 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0007113 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0949022 property_value: exactMatch DOID:1993 property_value: exactMatch DOID:1993 property_value: exactMatch http://identifiers.org/snomedct/363351006 property_value: exactMatch http://identifiers.org/snomedct/363351006 property_value: exactMatch NCIT:C7418 property_value: exactMatch NCIT:C7418 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/cancer.yaml [Term] id: EFO:1000660 name: acanthosis nigricans def: "a brown to black, poorly defined, velvety hyperpigmentation of the skin. It is usually found in body folds, such as the posterior and lateral folds of the neck, the armpits, groin, navel, forehead, and other areas." [] def: "A melanotic cutaneous lesion that develops in the axilla and other body folds. It may be idiopathic, drug-induced, or it may be associated with the presence of an endocrine disorder or malignancy." [NCIT:P378] synonym: "acanthosis nigricans" EXACT [MONDO:ambiguous, OMIM:100600] synonym: "acanthosis nigricans" EXACT [] {comment="preferred label from MONDO"} synonym: "acanthosis nigricans (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "AN" EXACT [] synonym: "an - acanthosis nigricans" EXACT [DOID:3138] synonym: "Keratosis nigricans" EXACT [] synonym: "keratosis nigricans" EXACT [DOID:3138] xref: DOID:3138 {source="EFO:1000660", source="MONDO:equivalentTo"} xref: HP:0000956 {source="MONDO:otherHierarchy"} xref: ICD10:L83 xref: ICD10CM:L83 {source="MONDO:equivalentTo", source="DOID:3138"} xref: MedDRA:10000350 xref: MESH:D000052 {source="MONDO:equivalentTo", source="DOID:3138"} xref: MONDO:0007035 xref: NCIT:C26687 {source="MONDO:equivalentTo", source="DOID:3138"} xref: Orphanet:924 {source="MONDO:equivalentObsolete", source="OMIM:100600"} xref: SCTID:402599005 {source="MONDO:equivalentTo", source="DOID:3138"} xref: UMLS:C0000889 {source="MONDO:equivalentTo", source="NCIT:C26687", source="DOID:3138", source="MONDO:ncbi_mim2gene_medline", source="OMIM:100600"} xref: Wikipedia:Acanthosis_nigricans {source="EFO:1000660"} is_a: EFO:1000755 ! pigmentation disease is_a: MONDO:0002406 {source="NCIT:C26687"} ! dermatitis property_value: exactMatch DOID:3138 property_value: exactMatch http://identifiers.org/mesh/D000052 property_value: exactMatch http://identifiers.org/snomedct/402599005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0000889 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L83 property_value: exactMatch NCIT:C26687 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000589 "acanthosis nigricans (disease)" xsd:string [Term] id: EFO:1000661 name: Achenbach syndrome def: "A rare disorder which affects the volar surfaces of fingers. Clinical signs include recurrent, spontaneous or post-traumatic bruising of fingers. The clinical course of the resultant hematoma usually follows a pattern of resolution within days." [NCIT:C35467] def: "a rarely reported clinical disorder with recurring, sudden bruising of the volar part of a finger, appearing spontaneously or after minor trauma and resolving completely within days." [] synonym: "Achenbach syndrome" EXACT [NCIT:C35467] synonym: "Achenbach syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "paroxysmal finger hematoma" EXACT [] synonym: "paroxysmal hematoma of the finger" EXACT [DOID:6687] xref: DOID:6687 {source="EFO:1000661", source="MONDO:equivalentTo"} xref: MedDRA:10079562 xref: MONDO:0006520 xref: NCIT:C35467 {source="DOID:6687", source="MONDO:equivalentTo", source="NCIT:C35467"} xref: PMID:22915534 {source="EFO:1000661"} xref: SCTID:238824006 {source="DOID:6687", source="MONDO:equivalentTo"} is_a: EFO:0000701 {source="DOID:6687", source="EFO:1000661"} ! skin disease is_a: MONDO:0002254 {source="NCIT:C35467"} ! syndromic disease property_value: exactMatch DOID:6687 property_value: exactMatch http://identifiers.org/snomedct/238824006 property_value: exactMatch NCIT:C35467 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000662 name: acneiform dermatitis def: "Cutaneous eruptions resembling acne, characterized by the presence of papulonodules, pustules, comedones, or cysts in the face, trunk, and extremities. Causes include infections and the use of certain medications (e.g., antibiotics and steroids)." [NCIT:P378] synonym: "acneiform dermatitis" EXACT [] {comment="preferred label from MONDO"} synonym: "acneiform eruption" EXACT [] synonym: "acneiform eruptions" EXACT [] synonym: "Rash acneiform" EXACT [NCIT:C35277] xref: DOID:4399 {source="MONDO:equivalentTo", source="EFO:1000662"} xref: MedDRA:10000520 xref: MedDRA:10012432 xref: MeSH:D017486 xref: MONDO:0006521 xref: NCIT:C35277 {source="DOID:4399", source="MONDO:equivalentTo"} xref: NCIt:C35277 xref: SNOMEDCT:402644006 xref: UMLS:C0234894 {source="DOID:4399", source="MONDO:equivalentTo"} is_a: MONDO:0002406 {source="DOID:4399", source="NCIT:C35277"} ! dermatitis property_value: definition:citation http://sideeffects.embl.de/se/C0234894/pt xsd:string property_value: exactMatch DOID:4399 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0234894 property_value: exactMatch NCIT:C35277 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000663 name: acquired keratosis def: "a hornlike skin condition not inherited at birth, but acquired later in the life" [] def: "Focal or diffuse thickening of the skin not inherited as a primary genetic disorder. Causes include inflammatory skin disorders, infectious disorders, lymphedema, and medications." [NCIT:P378] synonym: "acquired hyperkeratosis" RELATED [DOID:13072] synonym: "acquired keratoderma" EXACT [DOID:13072, NCIT:C34746] synonym: "acquired keratosis" EXACT [MONDO:patterns/acquired] synonym: "acquired keratosis" EXACT [] {comment="preferred label from MONDO"} synonym: "keratoderma - acquired" EXACT [DOID:13072] synonym: "keratoderma, acquired" EXACT [DOID:13072, ICD9CM:701.1] xref: DOID:13072 {source="EFO:1000663", source="MONDO:equivalentTo"} xref: ICD9:701.1 {source="DOID:13072", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MONDO:0006522 xref: NCIT:C34746 {source="DOID:13072", source="MONDO:equivalentTo"} xref: SCTID:400166009 {source="DOID:13072", source="MONDO:equivalentTo"} is_a: EFO:1000720 {source="DOID:13072", source="EFO:1000663", source="MONDO:Redundant", source="NCIT:C34746"} ! keratosis intersection_of: EFO:1000720 ! keratosis intersection_of: has_characteristic MONDO:0021141 ! acquired relationship: has_characteristic MONDO:0021141 ! acquired property_value: exactMatch DOID:13072 property_value: exactMatch http://identifiers.org/snomedct/400166009 property_value: exactMatch NCIT:C34746 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000664 name: acrodermatitis def: "A dermatitis that selectively affects the hands and feet." [] def: "An inflammatory skin condition affecting children. It is often associated with Epstein-Barr virus infection, hepatitis B infection or cytomegalovirus infection. It is characterized by the presence of cutaneous rashes and patches on the palms and soles. The trunk is not affected." [NCIT:P378] subset: gard_rare {source="GARD:0005722"} synonym: "acrodermatitis" EXACT [] {comment="preferred label from MONDO"} xref: CSP:4008-0032 {source="DOID:2722"} xref: DOID:2722 {source="MONDO:equivalentTo", source="EFO:1000664"} xref: ICD9:686.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10000593 xref: MESH:D000169 {source="MONDO:equivalentTo", source="DOID:2722"} xref: MONDO:0006523 xref: NCIT:C84532 {source="MONDO:equivalentTo", source="DOID:2722"} xref: SCTID:8197001 {source="MONDO:equivalentTo", source="DOID:2722"} xref: UMLS:C0001197 {source="MONDO:equivalentTo", source="DOID:2722", source="NCIT:C84532"} is_a: MONDO:0002406 {source="DOID:2722", source="MESH:D000169", source="NCIT:C84532"} ! dermatitis property_value: exactMatch DOID:2722 property_value: exactMatch http://identifiers.org/mesh/D000169 property_value: exactMatch http://identifiers.org/snomedct/8197001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001197 property_value: exactMatch NCIT:C84532 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5722/acrodermatitis xsd:anyURI {source="GARD:0005722"} [Term] id: EFO:1000665 name: acrodermatitis chronica atrophicans def: "An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis." [DOID:0060344, http://en.wikipedia.org/wiki/Acrodermatitis_chronica_atrophicans, http://www.dermis.net/dermisroot/en/35111/diagnose.htm] synonym: "acrodermatitis chronica atrophicans" EXACT [] {comment="preferred label from MONDO"} synonym: "Herxheimer disease" EXACT [DOID:0060344] synonym: "herxheimer disease" EXACT [] synonym: "primary diffuse atrophy" EXACT [DOID:0060344] xref: DERMO:0002165 {source="DOID:0060344"} xref: DOID:0060344 {source="MONDO:equivalentTo", source="EFO:1000665"} xref: ICD10CM:L90.4 {source="MONDO:equivalentTo"} xref: ICD9:701.8 {source="MONDO:relatedTo", source="DOID:0060344", source="MONDO:i2s"} xref: MedDRA:10000594 xref: MONDO:0006524 xref: SCTID:4340003 {source="MONDO:equivalentTo"} xref: UMLS:C0263421 {source="MONDO:equivalentTo"} is_a: EFO:1000664 {source="DOID:0060344", source="EFO:1000665"} ! acrodermatitis property_value: exactMatch DOID:0060344 property_value: exactMatch http://identifiers.org/snomedct/4340003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263421 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L90.4 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000666 name: acrokeratosis verruciformis def: "A rare genetic skin keratinization disorder with an autosomal dominant mode of inheritance. It is characterized by numerous flesh-colored warty papules on the back of the hands, medial aspect of the feet, knees, and elbows." [NCIT:C27519] def: "a rare genodermatosis with an autosomal dominant mode of inheritance. Acrokeratosis verruciformis is a disorder of keratinization characterized by multiple flat-topped, skin-colored keratotic lesions resembling plane warts typically observed on the dorsum of the hands and feet." [] subset: ordo_disease {source="Orphanet:79151"} synonym: "acrokeratosis verruciformis" EXACT [] {comment="preferred label from MONDO"} synonym: "acrokeratosis verruciformis" EXACT [MONDO:Lexical, OMIM:101900] synonym: "Acrokeratosis verruciformis of Hopf" EXACT [] synonym: "acrokeratosis verruciformis of Hopf" EXACT [DOID:0050606] synonym: "AKV" RELATED ABBREVIATION [MONDO:Lexical, OMIM:101900] synonym: "AKV of Hopf" EXACT [Orphanet:79151] synonym: "Hopf disease" EXACT [DOID:0050606, OMIM:101900] xref: DOID:0050606 {source="MONDO:equivalentTo", source="EFO:1000666"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10069445 {source="Orphanet:79151", source="Orphanet:79151/e"} xref: MONDO:0007048 xref: NCIT:C27519 {source="MONDO:equivalentTo"} xref: OMIM:101900 {source="MONDO:equivalentTo", source="Orphanet:79151", source="Orphanet:79151/e", source="DOID:0050606"} xref: Orphanet:79151 {source="MONDO:equivalentTo", source="OMIM:101900"} xref: SCTID:400085009 {source="MONDO:equivalentTo"} xref: UMLS:C0265971 {source="MONDO:equivalentTo", source="Orphanet:79151", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:79151/e", source="NCIT:C27519", source="OMIM:101900"} is_a: EFO:1000720 {source="DOID:0050606", source="EFO:1000666"} ! keratosis is_a: MONDO:0019271 {source="Orphanet:79151"} ! acrokeratoderma property_value: closeMatch http://identifiers.org/meddra/10069445 property_value: definition:citation http://emedicine.medscape.com/article/1055892-overview xsd:string property_value: exactMatch DOID:0050606 property_value: exactMatch http://identifiers.org/snomedct/400085009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265971 property_value: exactMatch https://omim.org/entry/101900 property_value: exactMatch NCIT:C27519 property_value: exactMatch Orphanet:79151 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000667 name: adiposis dolorosa def: "a rare condition characterized by generalized obesity and fatty tumors in the adipose tissue. The tumors are normally painful and found in multiples on the extremities." [] def: "Adiposis dolorosa or Dercum's disease is characterized by the development of multiple, painful, subcutaneous lipomas in association with obesity, asthenia and fatigue, and range of mental disturbances including instability, depression, confusion, dementia and epilepsy." [Orphanet:36397] subset: gard_rare {source="GARD:0005750"} subset: ordo_disease {source="Orphanet:36397"} synonym: "Adiposalgia" EXACT [Orphanet:36397] synonym: "adipose tissue rheumatism" EXACT [Orphanet:36397] synonym: "adiposis dolorosa" EXACT [] {comment="preferred label from MONDO"} synonym: "adiposis dolorosa" EXACT [OMIM:103200] synonym: "Dercum disease" EXACT [DOID:3928, OMIM:103200, Orphanet:36397] synonym: "Dercum's disease" EXACT [] synonym: "Dercum's disease" RELATED [GARD:0005750] synonym: "lipomatosis dolorosa" EXACT [Orphanet:36397] synonym: "Neurolipomatosis" EXACT [Orphanet:36397] xref: DOID:3928 {source="MONDO:equivalentTo", source="EFO:1000667"} xref: ICD9:272.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10001294 {source="Orphanet:36397/e", source="Orphanet:36397"} xref: MESH:D000274 {source="Orphanet:36397/e", source="MONDO:equivalentTo", source="Orphanet:36397", source="DOID:3928"} xref: MONDO:0007070 xref: NCIT:C84540 {source="MONDO:equivalentTo", source="DOID:3928"} xref: OMIM:103200 {source="Orphanet:36397/e", source="MONDO:equivalentTo", source="Orphanet:36397", source="DOID:3928"} xref: Orphanet:36397 {source="OMIM:103200", source="MONDO:equivalentTo"} xref: SCTID:71404003 {source="MONDO:equivalentTo", source="DOID:3928"} xref: UMLS:C0001529 {source="Orphanet:36397/e", source="OMIM:103200", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C84540", source="Orphanet:36397", source="DOID:3928"} xref: Wikipedia:Adiposis_dolorosa {source="EFO:1000667"} is_a: EFO:1000728 {source="DOID:3928", source="EFO:1000667", source="MESH:D000274"} ! lipomatosis is_a: MONDO:0000652 ! integumentary system benign neoplasm is_a: MONDO:0019296 {source="Orphanet:36397"} ! subcutaneous tissue disorder property_value: closeMatch http://identifiers.org/meddra/10001294 property_value: exactMatch DOID:3928 property_value: exactMatch http://identifiers.org/mesh/D000274 property_value: exactMatch http://identifiers.org/snomedct/71404003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001529 property_value: exactMatch https://omim.org/entry/103200 property_value: exactMatch NCIT:C84540 property_value: exactMatch Orphanet:36397 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5750/adiposis-dolorosa xsd:anyURI {source="GARD:0005750"} [Term] id: EFO:1000668 name: allergic contact dermatitis def: "A contact dermititis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign." [] def: "An inflammatory skin condition caused by an immune response to direct contact between the skin and an allergen. It consists of a delayed type of allergic reaction at the affected site with resulting red, swollen, and blistered skin that may itch or leak." [NCIT:P378] synonym: "allergic contact dermatitis" EXACT [DOID:3042, NCIT:C26998] synonym: "allergic contact dermatitis" EXACT [] {comment="preferred label from MONDO"} synonym: "allergic form of contact dermatitis" EXACT [MONDO:patterns/allergic_form_of_disease] xref: DOID:3042 {source="MONDO:equivalentTo", source="EFO:1000668"} xref: ICD10:L23 xref: ICD10CM:L23 {source="MONDO:equivalentTo", source="DOID:3042"} xref: ICD9:692.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10056265 xref: MESH:D017449 {source="MONDO:equivalentTo", source="DOID:3042"} xref: MONDO:0006525 xref: NCIT:C26998 {source="MONDO:equivalentTo", source="DOID:3042"} xref: SCTID:238575004 {source="MONDO:equivalentTo", source="DOID:3042"} xref: UMLS:C0162820 {source="MONDO:equivalentTo", source="NCIT:C26998", source="DOID:3042"} is_a: EFO:0000274 ! atopic eczema is_a: EFO:0005319 {source="DOID:3042", source="EFO:1000668", source="MESH:D017449", source="MONDO:Redundant", source="NCIT:C26998"} ! contact dermatitis property_value: exactMatch DOID:3042 property_value: exactMatch http://identifiers.org/mesh/D017449 property_value: exactMatch http://identifiers.org/snomedct/238575004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162820 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L23 property_value: exactMatch NCIT:C26998 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000669 name: allergic urticaria def: "A urticaria with a basis in a pathological type I hypersensitivity reaction." [MONDO:patterns/allergic_form_of_disease] def: "commonly referred to as hives, is a kind of skin rash notable for pale red, raised, itchy bumps. Hives may cause a burning or stinging sensation. Histamine and other proinflammatory substances are released from mast cells in the skin and tissues in response to the binding of allergen-bound IgE antibodies to high-affinity cell surface receptors. Basophils and other inflammatory cells are also seen to release histamine and other mediators, and are thought to play an important role, especially in chronic urticarial diseases." [] synonym: "allergic form of urticaria" EXACT [MONDO:patterns/allergic_form_of_disease] synonym: "allergic form of urticaria (disease)" EXACT [MONDO:patterns/allergic_form_of_disease] synonym: "allergic urticaria" EXACT [] {comment="preferred label from MONDO"} synonym: "allergic urticaria (disease)" EXACT [] xref: DOID:10612 {source="MONDO:equivalentTo", source="EFO:1000669"} xref: ICD10CM:L50.0 {source="DOID:10612", source="MONDO:equivalentTo"} xref: ICD9:708.0 {source="DOID:10612", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10001734 xref: MONDO:0006526 xref: SCTID:40178009 {source="DOID:10612", source="MONDO:equivalentTo"} xref: UMLS:C0149526 {source="DOID:10612", source="MONDO:equivalentTo"} xref: Wikipedia:Urticaria#Allergic_urticaria {source="EFO:1000669"} is_a: EFO:0000274 ! atopic eczema is_a: EFO:0005531 {source="DOID:10612", source="EFO:1000669", source="ICD10CM:L50.0", source="MONDO:Redundant"} ! urticaria property_value: exactMatch DOID:10612 property_value: exactMatch http://identifiers.org/snomedct/40178009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149526 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L50.0 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000670 name: anhidrosis def: "Lack of sweating or the ability to sweat when provoked by the appropriate stimulus." [NCIT:P378] def: "the inability to sweat normally. When you don't sweat (perspire), your body can't cool itself, which can lead to overheating and sometimes to heatstroke — a potentially fatal condition. Anhidrosis— sometimes called hypohidrosis — can be difficult to diagnose." [] synonym: "absence of sweating" EXACT [DOID:11156] synonym: "adiaphoresis" EXACT [DOID:11156, NCIT:C34385] synonym: "Adiaphoresis, Anhidrosis" EXACT [] synonym: "anhidrosis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:11156 {source="EFO:1000670", source="MONDO:equivalentTo"} xref: ICD10CM:L74.4 {source="MONDO:equivalentTo", source="DOID:11156"} xref: ICD9:705.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11156"} xref: MedDRA:10002512 xref: MESH:D007007 {source="DOID:11156", source="MONDO:directSiblingOf"} xref: MONDO:0006527 xref: SCTID:39659002 {source="MONDO:equivalentTo", source="DOID:11156"} is_a: EFO:1000772 {source="DOID:11156", source="EFO:1000670"} ! sweat gland disease property_value: definition:citation http://www.mayoclinic.org/diseases-conditions/anhidrosis/basics/definition/con-20033498 xsd:string property_value: exactMatch DOID:11156 property_value: exactMatch http://identifiers.org/snomedct/39659002 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L74.4 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000671 name: bacterial exanthem def: "A bacteria-induced exanthem" [EFO:1000671] def: "a bacteria-induced exanthem" [] synonym: "bacterial exanthem" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0050487 {source="EFO:1000671", source="MONDO:equivalentTo"} xref: MONDO:0006528 is_a: EFO:1000697 {source="DOID:0050487", source="EFO:1000671"} ! exanthem is_a: MONDO:0024295 ! skin disease caused by bacterial infection property_value: exactMatch DOID:0050487 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000672 name: obsolete_Bloch-Sulzberger syndrome def: "a genetic disorder that affects the skin, hair, teeth, nails, and central nervous system." [] synonym: "Bloch-Siemens syndrome" EXACT [] synonym: "Incontinentia pigmenti" EXACT [] synonym: "Incontinentia pigmenti syndrome" EXACT [] synonym: "melanoblastosis cutis" EXACT [] synonym: "nevus pigmentosus systematicus" EXACT [] xref: DOID:12305 xref: Wikipedia:Incongenita_pigmenti property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.100" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication of Orphanet term\nUse: Orphanet_464 Label: Incontinentia pigmenti" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_464 [Term] id: EFO:1000673 name: obsolete_bullous skin disease def: "An autoimmune disease of skin and connective tissue that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested." [] synonym: "bullous skin disorder" EXACT [] xref: DOID:8502 xref: ICD10:L12 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.7.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replaced by EFO:0008598 'autoimmune bullous skin disease'" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0008598 [Term] id: EFO:1000674 name: carbuncle def: "a cluster of boils, draining pus onto the skin. It is usually caused by bacterial infection, most commonly with Staphylococcus aureusorStreptococcus pyogenes, which can turn lethal. However, the presence of a carbuncle is actually a sign that the immune system is working.[1] The infection is contagious and may spread to other areas of the body, or other people; those living in the same residence may develop carbuncles at the same time." [] xref: DOID:2176 xref: MedDRA:10007247 xref: Wikipedia:Carbuncle is_a: HP:0000999 ! Pyoderma property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000675 name: cholesteatoma def: "A keratosis characterized_by keratinizing squamous epithelium located_in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction." [] def: "A pathologic process characterized by the proliferation of keratinizing squamous epithelium resulting in the accumulation of keratin and cells in the middle ear and/or mastoid. It may be congenital or acquired. If left untreated, it may increase in size and destroy adjacent structures." [NCIT:P378] synonym: "cholesteatoma" EXACT [] {comment="preferred label from MONDO"} synonym: "cholesteatoma" EXACT [MONDO:ambiguous] synonym: "cholesteatoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "congenital cholesteatoma (type)" RELATED [GARD:0010422] synonym: "primary acquired cholesteatoma (type)" RELATED [GARD:0010422] synonym: "secondary acquired cholesteatoma (type)" RELATED [GARD:0010422] xref: DOID:869 {source="MONDO:equivalentTo", source="EFO:1000675"} xref: HP:0009797 {source="MONDO:otherHierarchy"} xref: ICD9:385.30 {source="MONDO:equivalentTo", source="DOID:869", source="MONDO:i2s"} xref: MedDRA:10008642 xref: MedDRA:10008648 xref: MESH:D002781 {source="MONDO:equivalentTo", source="DOID:869"} xref: MONDO:0006530 xref: NCIT:C2944 {source="MONDO:equivalentTo", source="DOID:869"} xref: SCTID:363668000 {source="MONDO:equivalentTo", source="DOID:869"} xref: UMLS:C0008373 {source="MONDO:equivalentTo", source="DOID:869", source="NCIT:C2944"} is_a: EFO:1000720 {source="DOID:869", source="EFO:1000675", source="MESH:D002781"} ! keratosis property_value: exactMatch DOID:869 property_value: exactMatch http://identifiers.org/mesh/D002781 property_value: exactMatch http://identifiers.org/snomedct/363668000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008373 property_value: exactMatch NCIT:C2944 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000589 "cholesteatoma (disease)" xsd:string [Term] id: EFO:1000676 name: cholesteatoma of attic def: "A cholesteatoma in the attic" [EFO:1000676] def: "a cholesteatoma in the attic" [] synonym: "cholesteatoma of attic" EXACT [] {comment="preferred label from MONDO"} xref: DOID:10963 {source="MONDO:equivalentTo", source="EFO:1000676"} xref: ICD9:385.31 {source="DOID:10963", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10008643 xref: MONDO:0006531 xref: SCTID:38708003 {source="DOID:10963", source="MONDO:equivalentTo"} xref: UMLS:C0155489 {source="DOID:10963", source="MONDO:equivalentTo"} is_a: EFO:1000678 {source="DOID:10963", source="EFO:1000676"} ! cholesteatoma of middle ear property_value: exactMatch DOID:10963 property_value: exactMatch http://identifiers.org/snomedct/38708003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155489 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000677 name: cholesteatoma of external ear def: "A cholesteatoma (disease) that involves the external ear." [MONDO:patterns/location] def: "A cholesteatoma which involves invasion of the squamous tissue into a localized area of bony erosion of the ear canal. It may develop spontaneously or as a consequence of infection, trauma or surgery." [] synonym: "cholesteatoma (disease) of external ear" EXACT [] synonym: "cholesteatoma of external ear" EXACT [] {comment="preferred label from MONDO"} synonym: "external canal cholesteatoma" EXACT [DOID:9462] synonym: "external ear cholesteatoma (disease)" EXACT [MONDO:patterns/location] xref: DOID:9462 {source="MONDO:equivalentTo", source="EFO:1000677"} xref: ICD10CM:H60.4 {source="MONDO:equivalentTo", source="DOID:9462"} xref: ICD9:380.21 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9462"} xref: MedDRA:10008644 xref: MONDO:0006532 xref: SCTID:35247001 {source="MONDO:equivalentTo", source="DOID:9462"} xref: UMLS:C0155398 {source="MONDO:equivalentTo", source="DOID:9462"} is_a: EFO:0009668 {source="DOID:9462", source="ICD10CM:H60.4/inferred", source="MONDO:Redundant"} ! external ear disease is_a: EFO:1000675 {source="DOID:9462", source="EFO:1000677", source="MONDO:Redundant"} ! cholesteatoma property_value: exactMatch DOID:9462 property_value: exactMatch http://identifiers.org/snomedct/35247001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155398 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H60.4 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000678 name: cholesteatoma of middle ear def: "A mass of KERATIN-producing squamous EPITHELIUM that resembles an inverted (suck-in) bag of skin in the MIDDLE EAR. It arises from the eardrum (TYMPANIC MEMBRANE) and grows into the MIDDLE EAR causing erosion of EAR OSSICLES and MASTOID that contains the INNER EAR. " [] def: "A non-neoplastic lesion characterized by the proliferation of keratinizing squamous epithelium in the middle ear that results in the accumulation of keratin and cells. It is usually caused by repeated infections. If left untreated, it may increase in size and destroy the adjacent delicate bones of the middle ear." [NCIT:P378] synonym: "cholesteatoma (disease) of middle ear" EXACT [] synonym: "cholesteatoma of middle ear" EXACT [DOID:10964, ICD9CM:385.32] synonym: "cholesteatoma of middle ear" EXACT [] {comment="preferred label from MONDO"} synonym: "Cholesteatoma of middle ear and mastoid" EXACT [] synonym: "cholesteatoma of middle ear and mastoid" EXACT [DOID:10964, ICD9CM:385.33] synonym: "cholesteatoma of middle ear and/or mastoid" EXACT [DOID:10964] synonym: "Cholesteatoma of the middle ear" EXACT [] synonym: "cholesteatoma of the middle ear" EXACT [DOID:10964, NCIT:C3654] synonym: "cholesteatoma, middle ear" EXACT [] synonym: "Epidermosis of ear" EXACT [DOID:10964] synonym: "Epidermosis of middle ear" EXACT [DOID:10964] synonym: "middle ear cholesteatoma" EXACT [DOID:10964] synonym: "middle ear cholesteatoma (disease)" EXACT [MONDO:patterns/location] synonym: "unspecified cholesteatoma (morphologic abnormality)" EXACT [DOID:10964] xref: DOID:10964 {source="MONDO:equivalentTo", source="EFO:1000678"} xref: DOID:11433 xref: ICD10:H71 xref: ICD10CM:H71 {source="DOID:10964", source="MONDO:equivalentTo"} xref: ICD9:385.3 {source="DOID:10964"} xref: ICD9:385.32 {source="DOID:10964"} xref: ICD9:385.33 {source="DOID:10964", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10008645 xref: MESH:D018424 {source="DOID:10964", source="MONDO:equivalentTo"} xref: MeSH:D018424 xref: MONDO:0006533 xref: NCIT:C3654 {source="DOID:10964", source="MONDO:equivalentTo"} xref: SCTID:194339007 {source="DOID:10964", source="MONDO:equivalentTo"} xref: UMLS:C0155490 {source="DOID:10964", source="MONDO:equivalentTo", source="NCIT:C3654"} is_a: EFO:1000675 {source="DOID:10964", source="EFO:1000678", source="MESH:D018424", source="MONDO:Redundant", source="NCIT:C3654"} ! cholesteatoma is_a: MONDO:0003276 {source="DOID:10964", source="MONDO:Redundant", source="NCIT:C3654"} ! middle ear disorder relationship: EFO:0000784 UBERON:0001690 ! has_disease_location ear property_value: exactMatch DOID:10964 property_value: exactMatch http://identifiers.org/mesh/D018424 property_value: exactMatch http://identifiers.org/snomedct/194339007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155490 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H71 property_value: exactMatch NCIT:C3654 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000679 name: cholinergic urticaria def: "A type of physical urticarias (or hives) that appears when a person is sweating." [EFO:1000679] def: "a type of physical urticarias (or hives) that appears when a person is sweating." [] synonym: "cholinergic urticaria" EXACT [] {comment="preferred label from MONDO"} xref: DOID:14443 {source="MONDO:equivalentTo", source="EFO:1000679"} xref: ICD10CM:L50.5 {source="MONDO:equivalentTo", source="DOID:14443"} xref: ICD9:708.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14443"} xref: MedDRA:10008675 xref: MONDO:0006534 xref: SCTID:73098005 {source="MONDO:equivalentTo", source="DOID:14443"} xref: UMLS:C0152230 {source="MONDO:equivalentTo", source="DOID:14443"} xref: Wikipedia:Cholinergic_urticaria {source="EFO:1000679"} is_a: EFO:1000754 {source="DOID:14443", source="EFO:1000679"} ! physical urticaria property_value: exactMatch DOID:14443 property_value: exactMatch http://identifiers.org/snomedct/73098005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152230 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L50.5 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000680 name: mucous membrane pemphigoid def: "A bullous skin disease characterized by skin lesions and scaring and located_in mucous membranes and located_in skin." [] def: "A chronic autoimmune disorder that belongs to the mucous membrane pemphigoid disorders. It is characterized by bilateral scarring and opacification of the conjunctivae. It presents with pain and burning sensation in the eyes and photophobia. It leads to blindness. [ NCI ]" [] def: "Mucous membrane pemphigoid is a bullous dermatosis characterized clinically by blistering of the mucous membranes followed by scarring, and immunologically by IgG, IgA and/or C3 deposits on the epidermal basement membrane." [Orphanet:46486] subset: ordo_disease {source="Orphanet:46486"} synonym: "benign mucosal pemphigoid" RELATED [GARD:0005913] synonym: "benign mucous membrance pemphigoid" RELATED [GARD:0005913] synonym: "benign mucous Membrane pemphigoid" EXACT [NCIT:C34907] synonym: "benign mucous membrane pemphigoid" RELATED [DOID:11656] synonym: "benign mucous membrane pemphigoid with ocular involvement" RELATED [DOID:11656, ICD9CM:694.61] synonym: "cicatricial pemphigoid" EXACT [MONDO:0006535, Orphanet:46486] synonym: "cicatricial pemphigoid with ocular involvement" RELATED [DOID:11656] synonym: "cictricial pemphigoid with ocular involvement" EXACT [] synonym: "CP" EXACT [] synonym: "MMP" EXACT [] synonym: "mucosal pemphigoid" EXACT [Orphanet:46486] synonym: "Mucosynechial pemphigoid" EXACT [Orphanet:46486] synonym: "mucous membrane pemphigoid" EXACT [] {comment="preferred label from MONDO"} synonym: "ocular pemphigoid" EXACT [] synonym: "ocular pemphigoid" RELATED [DOID:11656, SCTID:34250006] synonym: "ocular pemphigus" EXACT [] synonym: "ocular pemphigus" RELATED [DOID:11656] synonym: "vegetating cicatricial pemphigoid" EXACT [] xref: DOID:11656 {source="EFO:1000680", source="MONDO:equivalentTo"} xref: ICD9:694.6 {source="DOID:11656"} xref: ICD9:694.61 {source="DOID:11656", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10057052 {source="Orphanet:46486/e", source="Orphanet:46486"} xref: MONDO:0018746 xref: NCIT:C34907 {source="DOID:11656", source="MONDO:equivalentTo"} xref: ORDO:Orphanet_46486 xref: Orphanet:46486 {source="MONDO:equivalentTo"} xref: SCTID:34250006 {source="DOID:11656", source="MONDO:relatedTo"} xref: SCTID:76092003 {source="DOID:11656", source="MONDO:equivalentTo"} is_a: EFO:0008598 {source="DOID:11656", source="EFO:1000680", source="EFO:1000680/inferred", source="Orphanet:46486"} ! autoimmune bullous skin disease property_value: closeMatch http://identifiers.org/meddra/10057052 property_value: exactMatch DOID:11656 property_value: exactMatch http://identifiers.org/snomedct/76092003 property_value: exactMatch NCIT:C34907 property_value: exactMatch Orphanet:46486 property_value: IAO:0000116 "term renamed to 'mucous membrane pemphigoid' (https://github.com/EBISPOT/efo/issues/75)" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000681 name: congenital generalized lipodystrophy def: "a rare condition characterized by an almost total lack of fatty (adipose) tissue in the body and a very muscular appearance. Adipose tissue is found in many parts of the body, including beneath the skin and surrounding the internal organs. It stores fat for energy and also provides cushioning. Congenital generalized lipodystrophy is part of a group of related disorders known as lipodystrophies, which are all characterized by a loss of adipose tissue. A shortage of adipose tissue leads to the storage of fat elsewhere in the body, such as in the liver and muscles, which causes serious health problems." [] def: "An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues." [Wikipedia:Congenital_generalized_lipodystrophy] synonym: "Beradinelli-Seip syndrome" EXACT [] synonym: "Berardinelli-Seip congenital lipodystrophy" EXACT [] synonym: "congenital generalised lipodystrophy (disease)" EXACT OMO:0003005 [] synonym: "congenital generalized lipodystrophy" EXACT [MONDO:ambiguous] synonym: "congenital generalized lipodystrophy" EXACT [] {comment="preferred label from MONDO"} synonym: "congenital generalized lipodystrophy (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "familial generalised lipodystrophy" EXACT OMO:0003005 [] synonym: "familial generalized lipodystrophy" EXACT [MONDO:cjm] synonym: "hereditary generalised lipodystrophy" EXACT OMO:0003005 [] synonym: "hereditary generalized lipodystrophy" EXACT [MONDO:patterns/hereditary] synonym: "lipodystrophy, congenital generalised" EXACT OMO:0003005 [] synonym: "lipodystrophy, congenital generalized" EXACT [OMIMPS:608594] xref: DOID:0050585 {source="EFO:1000681", source="MONDO:equivalentTo"} xref: HP:0009059 {source="MONDO:otherHierarchy"} xref: MedDRA:10053432 xref: MONDO:0006536 xref: OMIMPS:608594 {source="DOID:0050585", source="MONDO:equivalentTo"} xref: SCTID:284449005 {source="MONDO:equivalentTo"} is_a: MONDO:0020087 ! hereditary lipodystrophy is_a: MONDO:0027766 ! generalized lipodystrophy intersection_of: MONDO:0027766 ! generalized lipodystrophy intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: definition:citation http://ghr.nlm.nih.gov/condition/congenital-generalized-lipodystrophy xsd:string property_value: exactMatch DOID:0050585 property_value: exactMatch http://identifiers.org/snomedct/284449005 property_value: exactMatch https://omim.org/phenotypicSeries/PS608594 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000589 "congenital generalized lipodystrophy (disease)" xsd:string [Term] id: EFO:1000682 name: conjunctival pigmentation def: "Pigmented lesions that arise from the conjunctiva include nevus, complexion-associated melanosis (CAM), primary acquired melanosis (PAM), and malignant melanoma.1,2All of these lesions arise from melanocytes. However, a number of other lesions have a similar appearance but a different source, such as pigment deposits from silver and iron." [EFO:1000682] synonym: "conjunctival pigmentation" EXACT [] {comment="preferred label from MONDO"} synonym: "conjunctival pigmented lesion" EXACT [] xref: DOID:12304 {source="EFO:1000682", source="MONDO:equivalentTo"} xref: ICD9:372.55 {source="DOID:12304", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10062276 xref: MONDO:0006537 xref: SCTID:66081003 {source="DOID:12304", source="MONDO:equivalentTo"} xref: UMLS:C0155163 {source="DOID:12304", source="MONDO:equivalentTo"} is_a: EFO:1000755 ! pigmentation disease is_a: MONDO:0001331 {source="DOID:12304"} ! conjunctival deposit property_value: definition:citation http://www.aao.org/eyenet/article/conjunctival-pigmented-lesions-diagnosis-managemen?september-2013 xsd:string property_value: exactMatch DOID:12304 property_value: exactMatch http://identifiers.org/snomedct/66081003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155163 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000683 name: cutaneous diphtheria def: "A pyoderma that is a milder form of diphtheria restricted to the skin producing shallow skin ulcers is caused by direct physical contact of indivduals infected with Corynebacterium diphtheriae as the bacteria releases the diphtheria toxin." [] xref: DOID:12275 xref: MedDRA:10011661 is_a: HP:0000999 ! Pyoderma property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000684 name: dermatitis herpetiformis def: "A chronic blistering skin condition, characterised by blisters filled with a watery fluid. Despite its name, DH is neither related to nor caused by herpes virus: the name means that it is a skin inflammation having an appearance similar to herpes." [] def: "Dermatitis herpetiformis (DH) is a chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. DH may also appear as a consequence of gluten intolerance." [Orphanet:1656] subset: ordo_disease {source="Orphanet:1656"} synonym: "dermatitis herpetiformis" EXACT [] {comment="preferred label from MONDO"} synonym: "dermatitis herpetiformis" EXACT [DOID:8505, ICD9CM:694.0, MONDO:0006538] synonym: "dermatosis herpetiformis" EXACT [DOID:8505] synonym: "DH" EXACT [] synonym: "Duhring's disease" EXACT [DOID:8505] synonym: "Durhing-Brocq disease" EXACT [Orphanet:1656] xref: DOID:8505 {source="MONDO:equivalentTo", source="EFO:1000684"} xref: ICD10CM:L13.0 {source="DOID:8505", source="MONDO:equivalentTo", source="Orphanet:1656", source="Orphanet:1656/e"} xref: ICD9:694.0 {source="DOID:8505", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10012468 {source="Orphanet:1656", source="Orphanet:1656/e"} xref: MESH:D003874 {source="DOID:8505", source="MONDO:equivalentTo", source="Orphanet:1656", source="Orphanet:1656/e"} xref: MONDO:0015614 xref: NCIT:C26742 {source="DOID:8505", source="MONDO:equivalentTo"} xref: Orphanet:1656 {source="MONDO:equivalentTo"} xref: SCTID:111196000 {source="DOID:8505", source="MONDO:equivalentTo"} xref: UMLS:C0011608 {source="DOID:8505", source="MONDO:equivalentTo", source="NCIT:C26742", source="Orphanet:1656", source="Orphanet:1656/e"} xref: Wikipedia:Dermatitis_herpetiformis {source="EFO:1000684"} is_a: EFO:0008598 {source="DOID:8505", source="EFO:1000684", source="Orphanet:1656"} ! autoimmune bullous skin disease property_value: closeMatch http://identifiers.org/meddra/10012468 property_value: exactMatch DOID:8505 property_value: exactMatch http://identifiers.org/mesh/D003874 property_value: exactMatch http://identifiers.org/snomedct/111196000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011608 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L13.0 property_value: exactMatch NCIT:C26742 property_value: exactMatch Orphanet:1656 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000685 name: dermatographia def: "An urticaria induced by stroking of the skin." [] def: "Familial dermographism is a condition also known as skin writing. When people who have dermatographia lightly scratch their skin, the scratches redden into a raised wheal similar to hives. Signs and symptoms of dermatographia include raised red lines, swelling, inflammation, hive-like welts and itching. Symptoms usually disappear within 30 minutes. The exact cause of this condition is unknown. Treatment may invovle use of antihistamines if symptoms do not go away on their own." [GARD:0009480] subset: gard_rare synonym: "DDU" RELATED ABBREVIATION [MESH:C536612] synonym: "dermatographia" RELATED [GARD:0009480] synonym: "dermatographic urticaria" EXACT [DOID:743, ICD9CM:708.3] synonym: "Dermatographism, familial" RELATED [MESH:C536612, OMIM:125635] synonym: "dermo-distortive urticaria" RELATED [GARD:0009480, MESH:C536612] synonym: "Dermodistortive urticaria" RELATED [MESH:C536612] synonym: "dermographism" EXACT [DOID:743, GARD:0009480] synonym: "dermographism, familial" RELATED [MESH:C536612, OMIM:125635] synonym: "familial dermatographia" EXACT [] {comment="preferred label from MONDO"} synonym: "familial dermatographism" RELATED [GARD:0009480, MESH:C536612] synonym: "familial dermographism" RELATED [GARD:0009480] synonym: "VBU" RELATED ABBREVIATION [MESH:C536612] synonym: "vibratory angioedema" RELATED [MESH:C536612] synonym: "vibratory urticaria" RELATED [MESH:C536612] xref: DOID:743 {source="EFO:1000685", source="MONDO:equivalentTo"} xref: ICD10CM:L50.3 {source="DOID:743", source="MONDO:equivalentTo"} xref: ICD9:708.3 {source="DOID:743", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10012498 xref: MESH:C536612 {source="MONDO:equivalentTo"} xref: MONDO:0007448 xref: OMIM:125635 {source="DOID:743", source="GARD:0009480", source="MONDO:equivalentTo"} xref: SCTID:7632005 {source="DOID:743", source="MONDO:equivalentTo"} is_a: EFO:1000754 {source="DOID:743", source="EFO:1000685"} ! physical urticaria property_value: exactMatch DOID:743 property_value: exactMatch http://identifiers.org/mesh/C536612 property_value: exactMatch http://identifiers.org/snomedct/7632005 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L50.3 property_value: exactMatch https://omim.org/entry/125635 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9480/familial-dermographism xsd:anyURI {source="GARD:0009480"} [Term] id: EFO:1000686 name: dermatosis papulosa nigra def: "A benign skin condition commonly seen in dark-skinned individuals that is characterized by multiple small hyperpigmented papular lesions resembling seborrheic keratosis on the face and upper body." [NCIT:P378] def: "a condition of many small, benign skin lesions on the face, a condition generally presenting on dark-skinned individuals." [] synonym: "dermatosis papulosa nigra" EXACT [] {comment="preferred label from MONDO"} synonym: "dermatosis papulosa nigra" EXACT [DOID:4400, OMIM:125600] synonym: "dermatosis papulosa nigra (morphologic abnormality)" EXACT [DOID:4400] xref: DOID:4400 {source="MONDO:equivalentTo", source="EFO:1000686"} xref: ICD10CM:L82 {source="DOID:4400", source="MONDO:directSiblingOf"} xref: ICD9:709.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10057063 xref: MESH:C562379 {source="DOID:4400", source="MONDO:equivalentTo"} xref: MONDO:0007446 xref: NCIT:C2984 {source="DOID:4400", source="MONDO:equivalentTo"} xref: OMIM:125600 {source="DOID:4400", source="MONDO:equivalentTo"} xref: SCTID:254669003 {source="DOID:4400", source="MONDO:equivalentTo"} xref: UMLS:C0011645 {source="DOID:4400", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:125600", source="NCIT:C2984"} xref: Wikipedia:Dermatosis_papulosa_nigra {source="EFO:1000686"} is_a: MONDO:0002406 {source="DOID:4400", source="NCIT:C2984"} ! dermatitis is_a: MONDO:0100118 ! hereditary skin disorder property_value: exactMatch DOID:4400 property_value: exactMatch http://identifiers.org/mesh/C562379 property_value: exactMatch http://identifiers.org/snomedct/254669003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011645 property_value: exactMatch https://omim.org/entry/125600 property_value: exactMatch NCIT:C2984 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000687 name: diffuse lipomatosis def: "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue. It has been associated with several genetic disorders and different clinical conditions such as liver disease, excessive alcohol intake, adrenocortical steroid therapy, and antiretroviral therapy." [NCIT:C6504] def: "diffuse overgrowth of mature fat usually involves a large region of an extremity or trunk, of age usually under 2 years. It involves muscle and subcutaneous tissue, but not nerves and can recure frequently" [] synonym: "diffuse lipomatosis" EXACT [] {comment="preferred label from MONDO"} synonym: "diffuse lipomatosis" EXACT [NCIT:C6504] xref: DOID:3923 {source="MONDO:equivalentTo", source="EFO:1000687"} xref: MONDO:0006539 xref: NCIT:C6504 {source="MONDO:equivalentTo", source="DOID:3923", source="MONDO:exact-label-match"} xref: UMLS:C1333298 {source="MONDO:equivalentTo", source="NCIT:C6504", source="DOID:3923"} is_a: EFO:1000728 {source="DOID:3923", source="EFO:1000687", source="NCIT:C6504"} ! lipomatosis property_value: definition:citation http://surgpathcriteria.stanford.edu/softfat/lipomatosis/printable.html xsd:string property_value: exactMatch DOID:3923 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333298 property_value: exactMatch NCIT:C6504 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000688 name: dyshidrosis def: "A recurrent eczematous reaction characterized by the development of vesicular eruptions on the palms and soles, particularly along the sides and between the digits. It is accompanied by pruritus, a burning sensation, and hyperhidrosis. The disease is self-limiting, lasting only a few weeks. (Dorland, 27th ed)" [MESH:D011146] def: "a skin condition that is characterized by small blisters on the hands or feet. It is an acute, chronic, or recurrent dermatosis of the fingers, palms, and soles, characterized by a sudden onset of many deep-seated pruritic, clear vesicles; later, scaling, fissures and lichenification occur. Recurrence is common and for many can be chronic. Incidence/prevalence is said to be 1/5,000 in the United States. However, many cases of eczema are diagnosed as garden-variety atopic eczema without further investigation, so it is possible that this figure is misleading.This condition is not contagious to others, but the compromised integument can increase susceptibility to infection, and the accompanying itching can be a source of psychological distress" [] synonym: "acute vesiculobullous hand eczema" EXACT [] synonym: "Cheiropompholyx" EXACT [] synonym: "cheiropompholyx" EXACT [DOID:9230] synonym: "dyshidrosis" EXACT [] {comment="preferred label from MONDO"} synonym: "dyshidrosis" EXACT [DOID:9230] synonym: "dyshidrotic eczema" EXACT [] synonym: "DYSHYDROTIC ECZEMA" EXACT [] synonym: "DYSHYDROTIC eczema" EXACT [DOID:9230, MTH:261] synonym: "podopompholyx" EXACT [] synonym: "pompholyx" EXACT [] synonym: "pompholyx" RELATED [DOID:9230] synonym: "Vesicular eczema of hands and/or feet" EXACT [] synonym: "vesicular eczema of hands and/or feet" EXACT [DOID:9230, MTH:NOCODE] synonym: "Vesicular eczema of hands and/or feet|pompholyx" EXACT [] xref: DOID:9230 {source="MONDO:equivalentTo", source="EFO:1000688"} xref: ICD9:692.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:705.81 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9230"} xref: MedDRA:10013912 xref: MESH:D011146 {source="MONDO:equivalentTo", source="DOID:9230"} xref: MONDO:0006540 xref: SCTID:402567004 {source="MONDO:equivalentTo", source="DOID:9230"} xref: UMLS:C0032633 {source="MONDO:equivalentTo", source="DOID:9230"} xref: Wikipedia:Dyshidrosis {source="EFO:1000688"} is_a: EFO:1000772 {source="DOID:9230", source="EFO:1000688"} ! sweat gland disease property_value: exactMatch DOID:9230 property_value: exactMatch http://identifiers.org/mesh/D011146 property_value: exactMatch http://identifiers.org/snomedct/402567004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032633 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000689 name: ecthyma def: "a skin infection characterised by crusted sores beneath which ulcers form. It is a deep form of impetigo, as the same bacteria causing the infection are involved. Ecthyma causes deeper erosions of the skin into the dermis." [] xref: DOID:11907 xref: MedDRA:10014141 is_a: EFO:1000714 ! impetigo property_value: definition:citation http://www.dermnetnz.org/bacterial/ecthyma.html xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000690 name: epidermolysis bullosa def: "a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States.It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal." [] def: "Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool." [https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa] subset: gard_rare {source="GARD:0006359"} synonym: "acantholysis bullosa" EXACT [DOID:2730] synonym: "EB" RELATED ABBREVIATION [GARD:0006359] synonym: "epidermolysis bullosa" EXACT [] {comment="preferred label from MONDO"} synonym: "epidermolysis bullosa" EXACT [DOID:2730] xref: DOID:2730 {source="EFO:1000690", source="MONDO:equivalentTo"} xref: ICD10CM:Q81 {source="DOID:2730", source="MONDO:equivalentTo"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10014989 xref: MESH:D004820 {source="DOID:2730", source="MONDO:equivalentTo"} xref: MONDO:0006541 xref: NCIT:C67383 {source="DOID:2730", source="MONDO:equivalentTo"} xref: SCTID:61003004 {source="DOID:2730", source="MONDO:equivalentTo"} xref: Wikipedia:Epidermolysis_bullosa {source="EFO:1000690"} is_a: EFO:1000774 {source="DOID:2730", source="EFO:1000690", source="MESH:D004820"} ! vesiculobullous skin disease property_value: exactMatch DOID:2730 property_value: exactMatch http://identifiers.org/mesh/D004820 property_value: exactMatch http://identifiers.org/snomedct/61003004 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q81 property_value: exactMatch NCIT:C67383 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa xsd:anyURI {source="GARD:0006359"} [Term] id: EFO:1000691 name: epidermolysis bullosa acquisita def: "Epidermolysis bullosa acquisita (EBA) is a subepidermal bullous dermatosis of autoimmune origin that was named as a result of its resemblance to hereditary forms of epidermolysis bullosa (HEB), most notably dystrophic HEB." [Orphanet:46487] def: "epidermolysis bullosa not inherited at birth, most commonly presents as an acquired form of mechanobullous disorder. It is a very rare disease in which tense blisters appear at sites of trauma." [] subset: gard_rare subset: ordo_disease {source="Orphanet:46487"} synonym: "acquired epidermolysis bullosa" EXACT [DOID:4313, GARD:0006360, MONDO:patterns/acquired] synonym: "acquired epidermolysis bullosa" EXACT [] {comment="preferred label from MONDO"} synonym: "EB acquisita" RELATED [GARD:0006360] synonym: "EBA" EXACT ABBREVIATION [GARD:0006360, NCIT:C84690] synonym: "epidermolysis bullosa acquisita" EXACT [MONDO:0006542, NCIT:C84690, Orphanet:46487] synonym: "epidermolysis bullosa Aquisita" EXACT [NCIT:C84690] xref: DOID:4313 {source="EFO:1000691", source="MONDO:equivalentTo"} xref: ICD10CM:L12.3 {source="Orphanet:46487/e", source="DOID:4313", source="MONDO:equivalentTo", source="Orphanet:46487"} xref: ICD9:695.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10056508 {source="Orphanet:46487/e", source="Orphanet:46487"} xref: MESH:D016107 {source="DOID:4313", source="MONDO:equivalentTo"} xref: MONDO:0018747 xref: NCIT:C84690 {source="DOID:4313", source="MONDO:equivalentTo"} xref: Orphanet:46487 {source="MONDO:equivalentTo", source="GARD:0006360"} xref: SCTID:2772003 {source="DOID:4313", source="MONDO:equivalentTo"} xref: UMLS:C0079293 {source="DOID:4313", source="MONDO:equivalentTo", source="NCIT:C84690", source="GARD:0006360", source="Orphanet:46487"} is_a: EFO:0008598 {source="Orphanet:46487"} ! autoimmune bullous skin disease is_a: EFO:1000690 {source="DOID:4313", source="EFO:1000691", source="MESH:D016107", source="MONDO:Redundant", source="NCIT:C84690"} ! epidermolysis bullosa intersection_of: EFO:1000690 ! epidermolysis bullosa intersection_of: has_characteristic MONDO:0021141 ! acquired relationship: has_characteristic MONDO:0021141 {source="GARD:0006360"} ! acquired property_value: closeMatch http://identifiers.org/meddra/10056508 property_value: definition:citation http://www.dermnetnz.org/immune/epidermolysis-bullosa-acquisita.html xsd:string property_value: exactMatch DOID:4313 property_value: exactMatch http://identifiers.org/mesh/D016107 property_value: exactMatch http://identifiers.org/snomedct/2772003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0079293 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L12.3 property_value: exactMatch NCIT:C84690 property_value: exactMatch Orphanet:46487 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6360/epidermolysis-bullosa-acquisita xsd:anyURI {source="GARD:0006360"} [Term] id: EFO:1000692 name: epidermolysis bullosa dystrophica def: "A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes." [NCIT:P378] def: "an inherited disease affecting the skin and other organs. \"Butterfly children\" is the term given to those born with the disease, as their skin is seen to be as delicate and fragile as that of a butterfly." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:303"} synonym: "DEB" EXACT ABBREVIATION [Orphanet:303] synonym: "dermolytic epidermolysis bullosa" EXACT [Orphanet:303] synonym: "dystrophic EB" EXACT [] synonym: "Dystrophic epidermolysis bullosa" EXACT [] synonym: "epidermolysis bullosa dystrophica" EXACT [Orphanet:303] synonym: "epidermolysis bullosa dystrophica" EXACT [] {comment="preferred label from MONDO"} synonym: "epidermolysis bullosa, dermolytic" RELATED [GARD:0002150] xref: DOID:4959 {source="EFO:1000692", source="MONDO:equivalentTo"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D016108 {source="MONDO:equivalentTo", source="DOID:4959"} xref: MONDO:0006543 xref: NCIT:C84691 {source="MONDO:equivalentTo", source="DOID:4959"} xref: Orphanet:303 {source="MONDO:equivalentTo"} xref: SCTID:254185007 {source="MONDO:equivalentTo", source="DOID:4959"} xref: Wikipedia:Epidermolysis_bullosa_dystrophica {source="EFO:1000692"} is_a: MONDO:0019276 {source="Orphanet:303"} ! inherited epidermolysis bullosa property_value: exactMatch DOID:4959 property_value: exactMatch http://identifiers.org/mesh/D016108 property_value: exactMatch http://identifiers.org/snomedct/254185007 property_value: exactMatch NCIT:C84691 property_value: exactMatch Orphanet:303 property_value: excluded_subClassOf MONDO:0006541 {source="DOID:4959", source="EFO:1000692", source="MESH:D016108", source="NCIT:C84691"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3856 xsd:anyURI [Term] id: EFO:1000693 name: erythema infectiosum def: "A self-limited viral infectious disorder caused by the human parvovirus B19. It affects predominantly children and is characterized by the development of a bright red skin eruption in the cheeks. It is followed by a maculopapular skin eruption in the extremities which eventually fades into a lacey pattern." [NCIT:P378] def: "usually a benign childhood condition characterized by a classic slapped-cheek appearance (see the image below) and lacy exanthem.It results from infection with human parvovirus (PV) B19, an erythrovirus." [] synonym: "Erythema infectiosum" EXACT [] synonym: "erythema infectiosum" EXACT [] {comment="preferred label from MONDO"} synonym: "Fifth disease" EXACT [] synonym: "fifth disease" EXACT [DOID:8743] xref: DOID:8743 {source="EFO:1000693", source="MONDO:equivalentTo"} xref: ICD9:057.0 {source="DOID:8743", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10015214 xref: MESH:D016731 {source="DOID:8743", source="MONDO:equivalentTo"} xref: MONDO:0006544 xref: NCIT:C84695 {source="DOID:8743", source="MONDO:equivalentTo"} xref: SCTID:34730008 {source="DOID:8743", source="MONDO:equivalentTo"} xref: UMLS:C0085273 {source="DOID:8743", source="MONDO:equivalentTo", source="NCIT:C84695"} is_a: EFO:0000763 {source="MESH:D016731/inferred", source="NCIT:C84695"} ! viral disease is_a: EFO:1000776 {source="DOID:8743", source="EFO:1000693"} ! viral exanthem is_a: MONDO:0024294 ! skin disorder caused by infection property_value: definition:citation http://emedicine.medscape.com/article/1132078-overview xsd:string property_value: exactMatch DOID:8743 property_value: exactMatch http://identifiers.org/mesh/D016731 property_value: exactMatch http://identifiers.org/snomedct/34730008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085273 property_value: exactMatch NCIT:C84695 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000694 name: erythema multiforme def: "A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness." [] def: "Erythema multiforme (EM) refers to a group ofhypersensitivity disorders characterized by symmetric red, patchy lesions, primarily on the arms and legs. The cause is unknown, but EM frequently occurs in association with herpes simplex virus, suggesting an immunologic process initiated by the virus. In half of the cases, the triggering agents appear to be medications, including anticonvulsants, sulfonamides, nonsteroidal anti-inflammatory drugs, and other antibiotics. In addition, some cases appear to be associated with infectious organisms such as Mycoplasma pneumoniae and many viral agents. Erythema multiforme is the mildest of three skin disorders that are often discussed in relation to each other. It is generally the mildest of the three. More severe is Stevens-Johnson syndrome. The most severe of the three is toxic epidermal necrolysis (TEN)." [https://rarediseases.info.nih.gov/diseases/6372/erythema-multiforme] subset: gard_rare {source="GARD:0006372"} synonym: "Dermatostomatitis, erythema multiforme type" RELATED [GARD:0006372] synonym: "EM" RELATED ABBREVIATION [GARD:0006372] synonym: "erythema multiforme" EXACT [] {comment="preferred label from MONDO"} synonym: "erythema multiforme bullosum" RELATED [GARD:0006372] synonym: "erythema polymorphe, erythema multiforme type" RELATED [GARD:0006372] synonym: "febrile mucocutaneous syndrome" RELATED [GARD:0006372] synonym: "Herpes iris, erythema multiforme type" RELATED [GARD:0006372] xref: DOID:0050185 {source="EFO:1000694", source="MONDO:equivalentTo"} xref: ICD10:L51 xref: ICD10CM:L51 {source="MONDO:equivalentTo"} xref: ICD9:695.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:695.10 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10015218 xref: MESH:D004892 {source="MONDO:equivalentTo"} xref: MONDO:0006545 xref: NCIT:C3024 {source="MONDO:equivalentTo"} xref: SCTID:36715001 {source="MONDO:equivalentTo"} xref: UMLS:C0014742 {source="MONDO:equivalentTo", source="NCIT:C3024"} is_a: EFO:0000701 {source="DOID:0050185", source="EFO:1000694", source="MESH:D004892/inferred", source="NCIT:C3024/inferred"} ! skin disease property_value: exactMatch DOID:0050185 property_value: exactMatch http://identifiers.org/mesh/D004892 property_value: exactMatch http://identifiers.org/snomedct/36715001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014742 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L51 property_value: exactMatch NCIT:C3024 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6372/erythema-multiforme xsd:anyURI {source="GARD:0006372"} [Term] id: EFO:1000695 name: erythematosquamous dermatosis def: "A skin condition that primarily affects the scalp and face and presents as scaly inflammation. Examples include itchy, dry skin and dandruff." [NCIT:P378] def: "Anything that irritates, clogs, or inflames your skin can cause symptoms such as redness, swelling, burning, and itching. Allergies, irritants, your genetic makeup, and certain diseases and immune system problems can cause rashes, hives, and other skin conditions. Many skin problems, such as acne, also affect your appearance." [] synonym: "erythematosquamous dermatosis" EXACT [] {comment="preferred label from MONDO"} synonym: "erythematosquamous dermatosis" EXACT [DOID:9097, NCIT:C34591] synonym: "Other erythematosquamous dermatosis" EXACT [DOID:9097] xref: DOID:9097 {source="MONDO:equivalentTo", source="EFO:1000695"} xref: ICD9:690 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9097"} xref: ICD9:690.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10015239 xref: MONDO:0006546 xref: NCIT:C34591 {source="MONDO:equivalentTo", source="DOID:9097"} xref: SCTID:54792008 {source="MONDO:equivalentTo", source="DOID:9097"} xref: UMLS:C0014747 {source="NCIT:C34591", source="MONDO:equivalentTo", source="DOID:9097"} is_a: EFO:0000701 {source="DOID:9097", source="EFO:1000695", source="NCIT:C34591/inferred"} ! skin disease property_value: definition:citation https://kinsights.com/issues/54792008/erythematosquamous-dermatosis/ xsd:string property_value: exactMatch DOID:9097 property_value: exactMatch http://identifiers.org/snomedct/54792008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014747 property_value: exactMatch NCIT:C34591 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000696 name: erythrasma def: "a skin disease that causes brown, scaly skin patches. It is caused by the Gram-positive bacterium Corynebacterium minutissimum. It is prevalent among diabetics and the obese, and in warm climates; it is worsened by wearing occlusive clothing." [] synonym: "infection due to Corynebacterium minutissimum" EXACT [] xref: DOID:4131 xref: MedDRA:10015248 xref: Wikipedia:Erythrasma is_a: HP:0000999 ! Pyoderma property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000697 name: exanthem def: "a widespread rash usually occurring in children but can occur in adults. An exanthem can be caused by toxins, drugs, or microorganisms, or can result from autoimmune disease. It can be contrasted with an enanthem." [] def: "Any change in the skin which affects its appearance or texture. A rash may be localized to one part of the body, or affect all the skin. Rashes may cause the skin to change color, itch, become warm, bumpy, dry, cracked or blistered, swell and may be painful." [NCIT:P378] synonym: "cutaneous eruption" EXACT [NCIT:C39594] synonym: "exanthem" EXACT [MONDO:ambiguous] synonym: "exanthem" EXACT [] {comment="preferred label from MONDO"} synonym: "exanthem (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "exanthema" EXACT [DOID:0050486] synonym: "Rash" EXACT [DOID:0050486] synonym: "rash|exanthema" EXACT [] synonym: "skin eruption" EXACT [NCIT:C39594] synonym: "skin Rash" EXACT [NCIT:C39594] xref: DOID:0050486 {source="MONDO:equivalentTo", source="EFO:1000697"} xref: HP:0000988 {source="MONDO:otherHierarchy"} xref: ICD9:782.1 {source="DOID:0050486", source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10015585 xref: MESH:D005076 {source="DOID:0050486", source="MONDO:equivalentTo"} xref: MONDO:0006547 xref: NCIT:C39594 {source="DOID:0050486", source="MONDO:equivalentTo", source="MONDO:otherHierarchy"} xref: SCTID:271807003 {source="DOID:0050486", source="MONDO:equivalentTo"} xref: Wikipedia:Exanthem {source="EFO:1000697"} is_a: EFO:0000701 {source="DOID:0050486", source="EFO:1000697", source="MESH:D005076"} ! skin disease relationship: disease_has_feature EFO:1000697 {source="MONDO:Wikidata"} ! exanthem property_value: exactMatch DOID:0050486 property_value: exactMatch http://identifiers.org/mesh/D005076 property_value: exactMatch http://identifiers.org/snomedct/271807003 property_value: exactMatch NCIT:C39594 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000589 "exanthem (disease)" xsd:string [Term] id: EFO:1000698 name: facial dermatosis def: "Facial Dermatosis, also known as facial dermatoses, is related tolipogranulomatosis. An important gene associated with Facial Dermatosis isCCNE1(cyclin E1). The drugsbetamethasoneandbetamethasone acetatehave been mentioned in the context of this disorder." [EFO:1000698] synonym: "facial dermatoses" EXACT [] synonym: "facial dermatosis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:3134 {source="MONDO:equivalentTo", source="EFO:1000698"} xref: MESH:D005148 {source="DOID:3134", source="MONDO:equivalentTo"} xref: MONDO:0006548 xref: UMLS:C0015456 {source="DOID:3134", source="MONDO:equivalentTo"} is_a: EFO:0000701 {source="DOID:3134", source="EFO:1000698", source="MESH:D005148"} ! skin disease property_value: definition:citation http://www.malacards.org/card/facial_dermatosis xsd:string property_value: exactMatch DOID:3134 property_value: exactMatch http://identifiers.org/mesh/D005148 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015456 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000699 name: fibroepithelial polyp of the anus def: "A non-neoplastic polypoid lesion that arises from the anal canal or perianal skin. It is composed of dense fibrous stroma and it is covered by squamous epithelium." [NCIT:C4435] def: "Also called fibrous polyp or anal tag, this is one of the most frequent anal lesions and is found at the dentate line, anal mucosa or in the perianal skin  . Fibroepithelial polyps may be associated with local inflammation such as fissure or fistula  . Granulomas can be found in about one third of skin tags in cases of Crohn disease  . Others may represent the end stage of a thrombosed haemorrhoid, but remnants of haemorrhoidal vessels or signs of previous bleeding are rarely found. Most are probably of idiopathic nature as the incidence is rather similar in patients with or without anal diseases. Grossly, the polyp is spherical or elongated with a greater diameter ranging from a few millimetres up to 4 cm. The surface is white or grey and may show superficial ulceration. Histologically, it consists of a fibrous stroma covered by squamous epithelium, which usually is a slightly hyperplastic and may be keratinized. The stroma may be more or less dense and often contains fibroblastic cells with two or more nuclei and a considerable number of mast cells  . Neuronal hyperplasia is a common feature." [] synonym: "anal fibroepithelial polyp" EXACT [NCIT:C4435] synonym: "anal fibrous polyp" EXACT [NCIT:C4435] synonym: "anal tag" EXACT [NCIT:C4435] synonym: "anus skin tag" EXACT [MONDO:patterns/location] synonym: "fibroepithelial polyp of anus" EXACT [DOID:8170, NCIT:C5604] synonym: "fibroepithelial polyp of the anus" EXACT [] {comment="preferred label from MONDO"} synonym: "fibrous polyp of anus" EXACT [NCIT:C4435] synonym: "fibrous polyp of the anus" EXACT [NCIT:C4435] synonym: "skin tag of anus" RELATED [] xref: DOID:8170 {source="MONDO:equivalentTo", source="EFO:1000699"} xref: MONDO:0006549 xref: NCIT:C4435 {source="MONDO:equivalentTo"} xref: SCTID:195469007 {source="MONDO:equivalentTo"} is_a: MONDO:0060765 {source="NCIT:C4435"} ! fibroepithelial polyp is_a: MONDO:0060766 ! anal polyp property_value: definition:citation http://www.pubcan.org/icdotopo.php?id=5867 xsd:string property_value: exactMatch DOID:8170 property_value: exactMatch http://identifiers.org/snomedct/195469007 property_value: exactMatch NCIT:C4435 property_value: excluded_subClassOf MONDO:0004026 {source="DOID:8170"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000700 name: fibroepithelial polyp of urethra def: "A benign polypoid lesion of mesodermal origin that arises from the urethra." [NCIT:P378] def: "Benign urothelial polyp with both epithelial and stromal components. Usually a solitary lesion in bladder and urethra in adults, upper tract in children. Generally scant inflammation and no associated cystitis. Cystoscopic appearance is suggestive of papillary neoplasm rather than cystitis" [] synonym: "fibroepithelial polyp of the urethra" EXACT [NCIT:C6170] synonym: "Fibroepithelial Polyp of the Urinary Tract" EXACT [] synonym: "fibroepithelial polyp of urethra" EXACT [] {comment="preferred label from MONDO"} synonym: "fibroepithelial polyp of urethra" EXACT [MONDO:design_pattern] synonym: "skin tag of urethra" RELATED [] synonym: "urethra fibroepithelial polyp" EXACT [NCIT:C6170] synonym: "urethra skin tag" EXACT [MONDO:patterns/location] synonym: "urethral fibroepithelial polyp" EXACT [DOID:8108, NCIT:C6170] xref: DOID:8108 {source="MONDO:equivalentTo", source="EFO:1000700"} xref: MONDO:0006550 xref: NCIT:C6170 {source="DOID:8108", source="MONDO:equivalentTo"} xref: UMLS:C1336884 {source="DOID:8108", source="MONDO:equivalentTo", source="NCIT:C6170"} is_a: EFO:0009689 {source="DOID:8108", source="MONDO:Redundant", source="NCIT:C6170/inferred"} ! urethral disease is_a: MONDO:0060765 {source="NCIT:C6170"} ! fibroepithelial polyp property_value: definition:citation http://surgpathcriteria.stanford.edu/bladder/fibroepithelial-polyp/printable.html xsd:string property_value: exactMatch DOID:8108 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336884 property_value: exactMatch NCIT:C6170 property_value: excluded_subClassOf MONDO:0004026 {source="DOID:8108"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000701 name: follicular mucinosis def: "A rare dermatologic disorder characterized by the accumulation of mucinous material in the hair follicles. In some cases it is associated with lymphoproliferative disorders, most often mycosis fungoides and Hodgkin lymphoma." [NCIT:C82859] def: "an uncommon inflammatory disorder that characteristically presents as follicular papules and/or indurated plaques." [] synonym: "Alopecia mucinosa" EXACT [] synonym: "alopecia Mucinosa" EXACT [NCIT:C82859] synonym: "alopecia mucinosa" EXACT [] {comment="preferred label from MONDO"} synonym: "alopecia mucinosa" EXACT [DOID:9905] synonym: "alopecia mucinosis" EXACT [NCIT:C82859] synonym: "cutaneous focal mucinosis of hair follicle" EXACT [MONDO:design_pattern] synonym: "follicular mucinosis" EXACT [DOID:9905] synonym: "hair follicle cutaneous focal mucinosis" EXACT [MONDO:patterns/location] xref: DOID:9905 {source="MONDO:equivalentTo", source="EFO:1000701"} xref: ICD10CM:L65.2 {source="MONDO:equivalentTo", source="DOID:9905"} xref: ICD9:704.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10056506 xref: MESH:D000507 {source="MONDO:equivalentTo", source="DOID:9905"} xref: MONDO:0006551 xref: NCIT:C82859 {source="MONDO:equivalentTo", source="DOID:9905"} xref: PMID:24350019 {source="EFO:1000701"} xref: SCTID:27382006 {source="MONDO:equivalentTo", source="DOID:9905"} xref: UMLS:C0002173 {source="MONDO:equivalentTo", source="DOID:9905", source="NCIT:C82859"} is_a: MONDO:0004907 {source="MESH:D000507"} ! alopecia is_a: MONDO:0019286 ! sebaceous gland anomaly is_a: MONDO:0021653 ! cutaneous focal mucinosis property_value: exactMatch DOID:9905 property_value: exactMatch http://identifiers.org/mesh/D000507 property_value: exactMatch http://identifiers.org/snomedct/27382006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002173 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L65.2 property_value: exactMatch NCIT:C82859 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000702 name: folliculitis def: "Inflammation of the hair follicles. Causes include excessive perspiration, skin infections, and skin wounds." [NCIT:P378] def: "the infection and inflammation of one or more hair follicles. The condition may occur anywhere on the skin with the exception of the palms of the hands and soles of the feet. The rash may appear as pimples that come to white tips on the face, chest, back, arms, legs, and head." [] synonym: "dermatitis of hair follicle" EXACT [MONDO:design_pattern] synonym: "folliculitis" EXACT [] {comment="preferred label from MONDO"} synonym: "hair follicle dermatitis" EXACT [MONDO:patterns/location] synonym: "seborrhea capitis" EXACT [] xref: DOID:4409 {source="MONDO:equivalentTo", source="EFO:1000702"} xref: ICD10:L73 xref: ICD9:704.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10016936 xref: MESH:D005499 {source="MONDO:equivalentTo", source="DOID:4409"} xref: MONDO:0006552 xref: NCIT:C94408 {source="MONDO:equivalentTo", source="DOID:4409"} xref: SCTID:13600006 {source="MONDO:equivalentTo", source="DOID:4409"} xref: Wikipedia:Folliculitis {source="EFO:1000702"} is_a: MONDO:0002406 ! dermatitis is_a: MONDO:0002917 {source="DOID:4409", source="MESH:D005499", source="MONDO:Redundant", source="NCIT:C94408/inferred"} ! disorder of pilosebaceous unit property_value: exactMatch DOID:4409 property_value: exactMatch http://identifiers.org/mesh/D005499 property_value: exactMatch http://identifiers.org/snomedct/13600006 property_value: exactMatch NCIT:C94408 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000703 name: fox fordyce disease def: "a chronic blockage of the sweat gland ducts with a secondary, non-bacterial inflammatory response to the secretions and cellular debris in the cysts. Hidradenitisis very similar, but tends to have a secondary bacterial infection so that pus-draining sinuses are formed." [] def: "Fox-Fordyce disease isa chronic skin diseasemost common in women aged 13-35 years.It is characterized by the development of intense itching in the underarm area, the pubic area, and around the nipple of the breast as a result of perspiration which becomes trapped in the sweat gland and surrounding areas. The cause is unknown,but heat, humidity, and stress may play a role. Treatment may include the use of retinoids, antibiotics, and immunosuppressants." [https://rarediseases.info.nih.gov/diseases/6462/fox-fordyce-disease] subset: gard_rare {source="GARD:0006462"} synonym: "apocrine miliaria" EXACT [] synonym: "apocrine miliaria" RELATED [GARD:0006462] synonym: "Fox Fordyce disease" EXACT [DOID:1381] synonym: "Fox-Fordyce disease" EXACT [DOID:1381] synonym: "Fox-Fordyce disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Fox-Fordyce syndrome" RELATED [GARD:0006462] synonym: "miliaria, apocrine" RELATED [GARD:0006462] xref: DOID:1381 {source="MONDO:equivalentTo", source="EFO:1000703"} xref: ICD10CM:L75.2 {source="MONDO:equivalentTo", source="DOID:1381"} xref: ICD9:705.82 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1381"} xref: MESH:D005588 {source="MONDO:equivalentTo", source="DOID:1381"} xref: MONDO:0006553 xref: NCIT:C84716 {source="MONDO:equivalentTo", source="DOID:1381"} xref: SCTID:65038009 {source="MONDO:equivalentTo", source="DOID:1381"} xref: UMLS:C0016632 {source="MONDO:equivalentTo", source="NCIT:C84716", source="DOID:1381"} xref: Wikipedia:Fox-Fordyce_disease {source="EFO:1000703"} is_a: EFO:1000772 {source="DOID:1381", source="EFO:1000703", source="MESH:D005588/inferred"} ! sweat gland disease property_value: exactMatch DOID:1381 property_value: exactMatch http://identifiers.org/mesh/D005588 property_value: exactMatch http://identifiers.org/snomedct/65038009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016632 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L75.2 property_value: exactMatch NCIT:C84716 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6462/fox-fordyce-disease xsd:anyURI {source="GARD:0006462"} [Term] id: EFO:1000704 name: granuloma annulare def: "a fairly rare, chronic dermatological condition which presents as reddish bumps on the skin arranged in a circle or ring. It can initially occur at any age and is significantly more common in females (80/20 ratio)." [] def: "Granuloma annulare is a long-term (chronic) skin disease consisting of a rash with reddish bumps arranged in a circle or ring. The most commonly affected areas are the forearms, hands and feet. The lesions associated with granuloma annulare usually resolve without treatment. Strong steroids (applied as a cream or injection) are sometimes used to clear the rash more quickly. Most symptoms will disappear within 2 years (even without treatment), but recurrence is common. The underlying cause of granuloma annulare is unknown." [https://rarediseases.info.nih.gov/diseases/6546/granuloma-annulare] subset: gard_rare {source="GARD:0006546"} synonym: "granuloma annulare" EXACT [] {comment="preferred label from MONDO"} synonym: "granuloma annulare" EXACT [DOID:3777] synonym: "Granulome annulare" EXACT [DOID:3777] xref: DOID:3777 {source="MONDO:equivalentTo", source="EFO:1000704"} xref: ICD10CM:L92.0 {source="DOID:3777", source="MONDO:equivalentTo"} xref: ICD9:709.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10018692 xref: MESH:D016460 {source="DOID:3777", source="MONDO:equivalentTo"} xref: MONDO:0006554 xref: NCIT:C3470 {source="DOID:3777", source="MONDO:equivalentTo"} xref: SCTID:65508009 {source="DOID:3777", source="MONDO:equivalentTo"} xref: UMLS:C0085074 {source="NCIT:C3470", source="DOID:3777", source="MONDO:equivalentTo"} xref: Wikipedia:Granuloma_annulare {source="EFO:1000704"} is_a: MONDO:0002406 {source="DOID:3777"} ! dermatitis property_value: exactMatch DOID:3777 property_value: exactMatch http://identifiers.org/mesh/D016460 property_value: exactMatch http://identifiers.org/snomedct/65508009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085074 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L92.0 property_value: exactMatch NCIT:C3470 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6546/granuloma-annulare xsd:anyURI {source="GARD:0006546"} [Term] id: EFO:1000705 name: granulomatous dermatitis def: "a rare skin disorder in which there is a particular pattern of granulomatousinflammation. The classic original clinical description of interstitialgranulomatous dermatitiswas of linear erythematous palpable cords on the lateral aspects of the trunk, called “the rope sign”." [] def: "An inflammatory reaction of the skin to various organic and inorganic antigens. It is characterized by tumor-like masses or nodules of granulomatous tissue comprised of activated histiocytes, epitheliod cells, and multinucleated giant cells." [NCIT:P378] synonym: "granulomatous dermatitis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:4397 {source="EFO:1000705", source="MONDO:equivalentTo"} xref: ICD10:L92 xref: MedDRA:10074954 xref: MONDO:0006555 xref: NCIT:C3505 {source="DOID:4397", source="MONDO:equivalentTo"} xref: UMLS:C0743086 {source="DOID:4397", source="MONDO:equivalentTo", source="NCIT:C3505"} is_a: MONDO:0002406 {source="DOID:4397", source="NCIT:C3505"} ! dermatitis property_value: definition:citation http://www.dermnetnz.org/dermal-infiltrative/granulomatous-dermatitis.html xsd:string property_value: exactMatch DOID:4397 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0743086 property_value: exactMatch NCIT:C3505 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000706 name: hand dermatosis def: "skin conditions characterised by dense infiltration of inflammatory cells (neutrophils) in the affected tissue. They arise in reaction to some underlying systemic illness. A neutrophilic dermatosis may be seen in isolation or more than one type may occur in the same individual." [] def: "Skin conditions characterized by dense infiltration of inflammatory cells (neutrophils) in the affected tissue. They arise in reaction to some underlying systemic illness. A neutrophilic dermatosis may be seen in isolation or more than one type may occur in the same individual." [EFO:1000706] comment: Editor note: TODO check definition synonym: "hand dermatosis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:3158 {source="EFO:1000706", source="MONDO:equivalentTo"} xref: MESH:D006229 {source="DOID:3158", source="MONDO:equivalentTo"} xref: MONDO:0006556 xref: UMLS:C0018567 {source="DOID:3158", source="MONDO:equivalentTo"} is_a: EFO:0000701 {source="DOID:3158", source="EFO:1000706", source="MESH:D006229"} ! skin disease property_value: definition:citation http://www.dermnetnz.org/reactions/neutrophilic-dermatosis-hands.html xsd:string property_value: exactMatch DOID:3158 property_value: exactMatch http://identifiers.org/mesh/D006229 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018567 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000707 name: hemangioma of subcutaneous tissue def: "A hemangioma arising from the subcutaneous soft tissues." [NCIT:P378] synonym: "angioma of subcutaneous tissue" EXACT [NCIT:C8540] synonym: "angioma of the subcutaneous tissue" EXACT [DOID:13081, NCIT:C8540] synonym: "hemangioma of subcutaneous tissue" EXACT [NCIT:C8540] synonym: "hemangioma of subcutaneous tissue" EXACT [] {comment="preferred label from MONDO"} synonym: "hemangioma of subcutaneous tissue" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "hemangioma of superficial fascia" EXACT [MONDO:design_pattern] synonym: "hemangioma of the subcutaneous tissue" EXACT [NCIT:C8540] synonym: "subcutaneous angioma" EXACT [NCIT:C8540] synonym: "subcutaneous haemangioma" EXACT [DOID:13081] synonym: "subcutaneous hemangioma" EXACT [NCIT:C8540] synonym: "subcutaneous tissue angioma" EXACT [NCIT:C8540] synonym: "subcutaneous tissue hemangioma" EXACT [NCIT:C8540] synonym: "superficial fascia hemangioma" EXACT [MONDO:patterns/location] xref: DOID:13081 {source="EFO:1000707", source="MONDO:equivalentTo"} xref: EFO:1000707 {source="MONDO:equivalentTo"} xref: http://www.uphs.upenn.edu/surgery/clinical/Plastic/hemangioma.html xref: MONDO:0006557 xref: NCIT:C8540 {source="DOID:13081", source="MONDO:equivalentTo"} xref: SCTID:93473009 {source="DOID:13081", source="MONDO:equivalentTo"} xref: UMLS:C0685200 {source="NCIT:C8540", source="DOID:13081", source="MONDO:equivalentTo"} is_a: EFO:1000635 {source="DOID:13081", source="EFO:1000707", source="MONDO:Redundant", source="NCIT:C8540"} ! hemangioma is_a: MONDO:0000652 {source="DOID:13081", source="MONDO:Redundant", source="MONDO:indirect"} ! integumentary system benign neoplasm is_a: MONDO:0019296 ! subcutaneous tissue disorder property_value: closeMatch http://identifiers.org/snomedct/189195009 property_value: closeMatch http://identifiers.org/snomedct/254823000 property_value: exactMatch DOID:13081 property_value: exactMatch DOID:13081 property_value: exactMatch http://identifiers.org/snomedct/93473009 property_value: exactMatch http://identifiers.org/snomedct/93473009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0685200 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0685200 property_value: exactMatch NCIT:C8540 property_value: exactMatch NCIT:C8540 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/hemangioma.yaml property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:1000708 name: hereditary papulotranslucent acrokeratoderma def: "A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis." [EFO:1000708] synonym: "acrokeratoderma, hereditary papulotranslucent" RELATED [OMIM:101840] synonym: "hereditary papulotranslucent acrokeratoderma" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0060360 {source="EFO:1000708", source="MONDO:equivalentTo"} xref: MESH:C566323 {source="MONDO:equivalentTo", source="DOID:0060360"} xref: MONDO:0007046 xref: OMIM:101840 {source="MONDO:equivalentTo", source="DOID:0060360"} xref: UMLS:C1863343 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:101840"} is_a: EFO:1000720 {source="DOID:0060360/inferred", source="MESH:C566323"} ! keratosis is_a: MONDO:0100118 ! hereditary skin disorder property_value: exactMatch DOID:0060360 property_value: exactMatch http://identifiers.org/mesh/C566323 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863343 property_value: exactMatch https://omim.org/entry/101840 property_value: excluded_subClassOf MONDO:0006530 {source="DOID:0060360"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000709 name: pemphigoid gestationis def: "a dermatosis of pregnancy,being an autoimmuneblistering skin disease that occurs during pregnancy, typically in the second or third trimester, and/or immediately following pregnancy. It was originally called herpes gestationis because of the blistering appearance, although it is not associated with the herpes virus." [] def: "A rare pregnancy-associated autoimmune skin disease that is characterized by an itchy rash that develops into blisters. It is most common during the second and third trimesters of pregnancy. It was previously known as herpes gestationis although it has no association with the herpes virus whatsoever." [https://www.dermnetnz.org/topics/pemphigoid-gestationis/] subset: gard_rare {source="GARD:0006497"} subset: ordo_disease {source="Orphanet:63275"} synonym: "Gestational herpes" EXACT [] synonym: "gestational herpes" EXACT DEPRECATED [DOID:14482] synonym: "gestational pemphigoid" EXACT [Orphanet:63275] synonym: "Herpes gestationis" EXACT DEPRECATED [DOID:14482] synonym: "herpes gestationis" EXACT [] synonym: "Herpes gestationis (disorder)" EXACT DEPRECATED [DOID:14482] synonym: "Herpes gestationis NOS (disorder)" EXACT DEPRECATED [DOID:14482] synonym: "Herpes gestationis unspecified (disorder)" EXACT DEPRECATED [DOID:14482] synonym: "pemphigoid gestationis" EXACT [] {comment="preferred label from MONDO"} synonym: "pemphigoid gestationis" EXACT [MONDO:0018970] synonym: "pemphigus gestationis" RELATED [DOID:0040098] xref: DOID:0040098 {source="MONDO:equivalentTo"} xref: DOID:14482 {source="EFO:1000709", source="MONDO:equivalentTo"} xref: ICD9:646.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10019939 {source="Orphanet:63275/e", source="Orphanet:63275"} xref: MedDRA:10052801 xref: MESH:D006559 {source="Orphanet:63275/e", source="MONDO:equivalentTo", source="DOID:14482", source="Orphanet:63275", source="DOID:0040098"} xref: MONDO:0006558 xref: NCIT:C85003 {source="MONDO:equivalentTo", source="DOID:14482"} xref: Orphanet:63275 {source="MONDO:equivalentTo"} xref: SCTID:86081009 {source="MONDO:equivalentTo", source="DOID:14482", source="DOID:0040098"} xref: UMLS:C0019343 {source="Orphanet:63275/e", source="MONDO:equivalentTo", source="DOID:14482", source="NCIT:C85003", source="Orphanet:63275"} xref: Wikipedia:Gestational_pemphigoid {source="EFO:1000709"} is_a: EFO:0009682 {source="MESH:D006559", source="MONDO:cjm"} ! pregnancy disorder is_a: EFO:1000749 {source="MONDO:cjm"} ! pemphigus property_value: closeMatch http://identifiers.org/meddra/10019939 property_value: exactMatch DOID:0040098 property_value: exactMatch DOID:14482 property_value: exactMatch http://identifiers.org/mesh/D006559 property_value: exactMatch http://identifiers.org/snomedct/86081009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019343 property_value: exactMatch NCIT:C85003 property_value: exactMatch Orphanet:63275 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6497/pemphigoid-gestationis xsd:anyURI {source="GARD:0006497"} [Term] id: EFO:1000710 name: hidradenitis suppurativa def: "A chronic suppurative and cicatricial disease of the apocrine glands occurring chiefly in the axillae in women and in the groin and anal regions in men. It is characterized by poral occlusion with secondary bacterial infection, evolving into abscesses which eventually rupture. As the disease becomes chronic, ulcers appear, sinus tracts enlarge, fistulas develop, and fibrosis and scarring become evident." [MESH:D017497] def: "a common (though rarely diagnosed), chronic skin disease characterized by clusters of abscesses or subcutaneous boil-like \"infections\" (oftentimes free of actual bacteria) that most commonly affects apocrine sweat gland bearing areas, such as the underarms, under the breasts, inner thighs, groin and buttocks.The disease is not contagious. There are indications that it is hereditary among certain ethnic groups and autoimmune in nature. Onset is most common in the late teens and early 20's." [] synonym: "acne inversa" EXACT [https://orcid.org/0000-0002-6601-2165, Orphanet:387] synonym: "Acne inversa, familial" EXACT [] synonym: "acne inversa, familial" NARROW [DOID:2280] synonym: "ectopic acne" EXACT [Orphanet:387] synonym: "fox den disease" EXACT [Orphanet:387] synonym: "hidradenitis" EXACT [] synonym: "hidradenitis suppurativa" EXACT [DOID:2280] synonym: "hidradenitis suppurativa" EXACT [] {comment="preferred label from MONDO"} synonym: "HS" EXACT [] synonym: "pyoderma fistulans significa" EXACT [Orphanet:387] synonym: "verneuil disease" EXACT [Orphanet:387] xref: DOID:2280 {source="MONDO:equivalentTo", source="EFO:1000710"} xref: DOID:2282 xref: ICD10CM:L73.2 {source="MONDO:equivalentTo", source="DOID:2280"} xref: MedDRA:10020041 xref: MESH:D017497 {source="MONDO:equivalentTo", source="DOID:2280"} xref: MONDO:0006559 xref: Orphanet:387 {source="MONDO:equivalentObsolete"} xref: SCTID:59393003 {source="MONDO:equivalentTo", source="DOID:2280"} xref: UMLS:C0162836 {source="MONDO:equivalentTo", source="DOID:2280"} xref: Wikipedia:Hidradenitis_suppurativa {source="EFO:1000710"} is_a: MONDO:0002260 {source="DOID:2280", source="MESH:D017497"} ! hidradenitis property_value: exactMatch DOID:2280 property_value: exactMatch http://identifiers.org/mesh/D017497 property_value: exactMatch http://identifiers.org/snomedct/59393003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162836 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L73.2 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000711 name: hyperpigmentation of eyelid def: "over-production of pigment in the eyelid" [] def: "Over-production of pigment in the eyelid." [EFO:1000711] synonym: "dyspigmentation of eyelid" EXACT [DOID:10122] synonym: "hyperpigmentation of eyelid" EXACT [] {comment="preferred label from MONDO"} synonym: "hyperpigmentation of eyelids" RELATED [OMIM:145100] xref: DOID:10122 {source="MONDO:equivalentTo", source="EFO:1000711"} xref: ICD9:374.52 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10122"} xref: MedDRA:10020714 xref: MESH:C562400 {source="MONDO:equivalentTo", source="DOID:10122"} xref: MONDO:0007769 xref: OMIM:145100 {source="MONDO:equivalentTo", source="DOID:10122"} xref: SCTID:41115008 {source="MONDO:equivalentTo", source="DOID:10122"} xref: UMLS:C0155211 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:145100", source="DOID:10122"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: EFO:1000755 ! pigmentation disease is_a: MONDO:0100118 ! hereditary skin disorder property_value: exactMatch DOID:10122 property_value: exactMatch http://identifiers.org/mesh/C562400 property_value: exactMatch http://identifiers.org/snomedct/41115008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155211 property_value: exactMatch https://omim.org/entry/145100 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000712 name: hypohidrosis def: "diminished sweating in response to appropriate stimuli. While hyperhidrosis is a socially troubling but benign condition, hypohidrosis can lead to hyperthermia, heat exhaustion, heat stroke and potentially death.[1] An extreme case of hypohydrosis in which there is a complete absence of sweating and the skin is dry is termedanhidrosis." [] synonym: "anhidrosis" EXACT [] synonym: "Oligohidrosis" EXACT [] synonym: "sudomotor dysfunction" EXACT [] synonym: "sweating dysfunction" EXACT [] xref: DOID:11155 xref: ICD10:R61 xref: MedDRA:10021013 xref: Wikipedia:Hypodidrosis is_a: EFO:1000772 ! sweat gland disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000713 name: hypopigmentation of eyelid def: "under-production of pigment in the eyelid" [] def: "Under-production of pigment in the eyelid." [EFO:1000713] synonym: "eyelid hypopigmentation" EXACT [] {comment="preferred label from MONDO"} synonym: "hypopigmentation of eyelid" EXACT [] xref: DOID:11668 {source="MONDO:equivalentTo", source="EFO:1000713"} xref: ICD9:374.53 {source="DOID:11668", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10021065 xref: MONDO:0006561 xref: SCTID:68210006 {source="DOID:11668", source="MONDO:equivalentTo"} xref: UMLS:C0155212 {source="DOID:11668", source="MONDO:equivalentTo"} is_a: EFO:0009547 {source="DOID:11668/inferred"} ! eyelid disease is_a: EFO:1000755 ! pigmentation disease property_value: exactMatch DOID:11668 property_value: exactMatch http://identifiers.org/snomedct/68210006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155212 property_value: excluded_subClassOf MONDO:0000941 {source="DOID:11668"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000714 name: impetigo def: "A pyoderma consisting of three forms of skin lesions having either a thick, adherent, recurrent, dirty yellow crust with an erythematous margin (common or superficial impetigo) or lessions which are superficial, thin-walled, and bullous as found in bullous impetigo. The lesions in bullous (staphylococcal) impetigo, which are always caused by S aureus, are superficial, thin-walled, and bullous." [] xref: DOID:8504 xref: ICD10:L01 xref: ICD9:684 xref: MedDRA:10021531 xref: MeSH:D007169 xref: SNOMEDCT:48277006 is_a: HP:0000999 ! Pyoderma property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000715 name: impetigo herpetiformis def: "An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy." [] xref: DOID:8503 xref: MedDRA:10021534 is_a: EFO:1000714 ! impetigo property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000716 name: obsolete_incontinentia pigmenti achromians def: "a dermal melanocytic condition affecting the shoulder area. Nevus of Ito often occurs in association with nevus of Ota in the same patient but is much less common, although the true incidence is unknown." [] synonym: "Bloch-Siemans syndrome, nevus of Ito" EXACT [] synonym: "Hypomelanosis of Ito" EXACT [] synonym: "Incontinentia pigmenti achromians syndrome" EXACT [] synonym: "Incontinentia pigmenti syndrome" EXACT [] synonym: "Ito's nevus" EXACT [] xref: DOID:3156 property_value: definition:citation http://emedicine.medscape.com/article/1058580-overview xsd:string property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.100" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication of Orphanet term\nUse: Orphanet:435 Label: Ito hypomelanosis" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_435 [Term] id: EFO:1000717 name: inverted follicular keratosis def: "a cutaneous condition characterized by asymptomatic, firm, white–tan to pink papules." [] def: "Seborrheic keratosis that arises from follicular structures in the skin. It presents as a solitary nodule in the skin and is characterized by the presence of prominent squamous eddies." [NCIT:P378] synonym: "inverted folicular keratosis" EXACT [DOID:6945] synonym: "inverted follicular keratosis" EXACT [] {comment="preferred label from MONDO"} synonym: "inverted follicular keratosis" EXACT [DOID:6945, NCIT:C9007] xref: DOID:6945 {source="EFO:1000717", source="MONDO:equivalentTo"} xref: ICD9:264.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10084288 xref: MONDO:0006563 xref: NCIT:C9007 {source="DOID:6945", source="MONDO:equivalentTo"} xref: SCTID:394728005 {source="DOID:6945", source="MONDO:equivalentTo"} xref: UMLS:C0334019 {source="DOID:6945", source="MONDO:equivalentTo", source="NCIT:C9007"} xref: Wikipedia:Inverted_follicular_keratosis {source="EFO:1000717"} is_a: EFO:0005584 {source="DOID:6945", source="EFO:1000717", source="NCIT:C9007"} ! seborrheic keratosis property_value: exactMatch DOID:6945 property_value: exactMatch http://identifiers.org/snomedct/394728005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334019 property_value: exactMatch NCIT:C9007 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000718 name: irritant dermatitis def: "An inflammatory skin condition caused by direct contact between the skin and an irritating substance. It is typically manifested by erythema, mild edema, and scaling at the affected site." [NCIT:P378] def: "Irritant contact dermatitisoccurs when your skin comes into directcontactwith a substance that damages the outer layer of your skin, causing redness, itching, and a burning or stinging sensation.Irritant contact dermatitismay be caused by frequent exposure to a weakirritant, such as soap or detergent." [] synonym: "irritant contact dermatitis" EXACT [DOID:2772, NCIT:C27151] synonym: "irritant dermatitis" EXACT [] {comment="preferred label from MONDO"} synonym: "primary irritant dermatitis" EXACT [DOID:2772] xref: DOID:2772 {source="EFO:1000718", source="MONDO:equivalentTo"} xref: ICD10:L24 xref: ICD9:692.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D017453 {source="DOID:2772", source="MONDO:equivalentTo"} xref: MONDO:0006564 xref: NCIT:C27151 {source="DOID:2772", source="MONDO:equivalentTo"} xref: SCTID:110979008 {source="DOID:2772", source="MONDO:equivalentTo"} xref: UMLS:C0162823 {source="DOID:2772", source="MONDO:equivalentTo", source="NCIT:C27151"} is_a: EFO:0005319 {source="DOID:2772", source="EFO:1000718", source="MESH:D017453", source="NCIT:C27151"} ! contact dermatitis property_value: definition:citation http://www.nhs.uk/Conditions/Eczema-(contact-dermatitis)/Pages/Causes.aspx xsd:string property_value: exactMatch DOID:2772 property_value: exactMatch http://identifiers.org/mesh/D017453 property_value: exactMatch http://identifiers.org/snomedct/110979008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162823 property_value: exactMatch NCIT:C27151 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000719 name: juvenile dermatitis herpetiformis def: "Dermatitis herpetiformis in children" [EFO:1000719] def: "dermatitis herpetiformis in children" [] synonym: "juvenile dermatitis herpetiformis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:8507 {source="EFO:1000719", source="MONDO:equivalentTo"} xref: ICD9:694.2 {source="DOID:8507", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10023252 xref: MONDO:0006565 xref: SCTID:5906000 {source="DOID:8507", source="MONDO:equivalentTo"} xref: UMLS:C0152092 {source="DOID:8507", source="MONDO:equivalentTo"} is_a: EFO:1000684 {source="DOID:8507", source="EFO:1000719"} ! dermatitis herpetiformis property_value: exactMatch DOID:8507 property_value: exactMatch http://identifiers.org/snomedct/5906000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152092 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000720 name: keratosis def: "A skin disease characterized_by growth of keratin on the skin or mucous membranes." [] def: "A skin disorder consisting of hypertrophy of the stratum corneum of the skin." [NCIT:C34745] synonym: "keratoderma" EXACT [NCIT:C34745] synonym: "keratosis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:161 {source="MONDO:equivalentTo", source="EFO:1000720"} xref: MedDRA:10023368 xref: MESH:D007642 {source="DOID:161", source="MONDO:equivalentTo"} xref: MONDO:0006566 xref: NCIT:C34745 {source="MONDO:equivalentTo"} xref: SCTID:254666005 {source="DOID:161", source="MONDO:equivalentTo"} xref: UMLS:C0022593 {source="DOID:161", source="MONDO:equivalentTo"} is_a: EFO:0000701 {source="DOID:161", source="EFO:1000720", source="MESH:D007642", source="NCIT:C34745/inferred"} ! skin disease is_a: MONDO:0045011 ! keratinization disease property_value: exactMatch DOID:161 property_value: exactMatch http://identifiers.org/mesh/D007642 property_value: exactMatch http://identifiers.org/snomedct/254666005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022593 property_value: exactMatch NCIT:C34745 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000721 name: kernicterus due to isoimmunization def: "a bilirubin-induced brain dysfunction in new-born due to isoimmunization" [] def: "Encephalopathy in infants due to high levels of unconjugated bilirubin that are a result of Rh incompatibility between the mother and the fetus." [NCIT:P378] synonym: "Kernicterus - due to isoimm." EXACT [] synonym: "kernicterus - due to isoimm." EXACT [DOID:12043] synonym: "kernicterus due to isoimmunization" EXACT [] {comment="preferred label from MONDO"} synonym: "Kernicterus due to isoimmunization of fetus or newborn" EXACT [] synonym: "kernicterus due to isoimmunization of fetus or newborn" EXACT [DOID:12043, ICD9CM:773.4] synonym: "kernicterus due to isoimmunization of foetus or newborn" EXACT OMO:0003005 [] synonym: "kernicterus related to isoimmunization" EXACT [NCIT:C101270] xref: DOID:12043 {source="MONDO:equivalentTo", source="EFO:1000721"} xref: ICD10CM:P57.0 {source="MONDO:equivalentTo", source="DOID:12043"} xref: ICD9:773.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12043"} xref: MONDO:0006567 xref: NCIT:C101270 {source="MONDO:equivalentTo", source="DOID:12043"} xref: SCTID:359007 {source="MONDO:equivalentTo", source="DOID:12043"} xref: UMLS:C0270204 {source="NCIT:C101270", source="MONDO:equivalentTo", source="DOID:12043"} is_a: EFO:1000739 ! neonatal jaundice is_a: MONDO:0001240 {source="DOID:12043"} ! neonatal anemia is_a: MONDO:0018477 {source="NCIT:C101270"} ! bilirubin encephalopathy is_a: MONDO:0100118 ! hereditary skin disorder property_value: exactMatch DOID:12043 property_value: exactMatch http://identifiers.org/snomedct/359007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270204 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/P57.0 property_value: exactMatch NCIT:C101270 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000722 name: Kimura disease def: "a benign rare chronic inflammatory disorder. Its primary symptoms are subdermal lesions in the head or neck or painless unilateral inflammation of cervical lymph nodes." [] def: "Kimura disease is a benign and chronic inflammatory disorder of unknown etiology, occurring mainly in Asian countries (very rarely in Western countries) and predominantly affecting young men, that usually presents with a solitary or multiple non-tender subcutaneous masses in the head and neck region (in particular the preauricular and submandibular area) and/or generalized painless lymphadenopathy, often with salivary gland involvement. Characteristic laboratory findings include blood eosinophilia and markedly elevated serum immunoglobulin E (IgE) levels. It is often associated with autoinflammatory disorders (i.e. ulcerative colitis, bronchial asthma) and a co-existing renal disease." [Orphanet:482] subset: gard_rare {source="GARD:0006835"} subset: ordo_disease {source="Orphanet:482"} synonym: "angiolymphoid hyperplasia with eosinophilia" RELATED [GARD:0006835] synonym: "eosinophilic granuloma of soft tissue" RELATED [GARD:0006835] synonym: "eosinophilic hyperplastic lymphogranuloma" RELATED [GARD:0006835] synonym: "eosinophilic lymphofollicular granuloma" RELATED [GARD:0006835] synonym: "eosinophilic lymphofolliculosis" RELATED [GARD:0006835] synonym: "eosinophilic lymphogranuloma" EXACT [Orphanet:482] synonym: "Kimura disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Kimura disorder" EXACT [] synonym: "Kimura's disease" EXACT [DOID:7365, NCIT:C26867] synonym: "Kimura's disorder" EXACT [] xref: DOID:7365 {source="MONDO:equivalentTo", source="EFO:1000722"} xref: MedDRA:10048640 {source="Orphanet:482/e", source="Orphanet:482"} xref: MESH:D000082242 {source="MONDO:equivalentTo"} xref: MESH:D000796 {source="Orphanet:482/e", source="MONDO:equivalentTo", source="Orphanet:482", source="DOID:7365"} xref: MONDO:0018830 xref: NCIT:C26867 {source="MONDO:equivalentTo", source="DOID:7365"} xref: Orphanet:482 {source="MONDO:equivalentTo"} xref: UMLS:C0033838 {source="Orphanet:482/e", source="MONDO:equivalentTo", source="NCIT:C26867", source="Orphanet:482", source="DOID:7365"} xref: Wikipedia:Kimura's_disease {source="EFO:1000722"} is_a: EFO:0000701 ! skin disease is_a: EFO:0005809 {source="https://orcid.org/0000-0002-1780-5230"} ! type II hypersensitivity reaction disease is_a: MONDO:0002052 {source="https://orcid.org/0000-0002-1780-5230"} ! lymphadenitis property_value: closeMatch http://identifiers.org/meddra/10048640 property_value: exactMatch DOID:7365 property_value: exactMatch http://identifiers.org/mesh/D000082242 property_value: exactMatch http://identifiers.org/mesh/D000796 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033838 property_value: exactMatch NCIT:C26867 property_value: exactMatch Orphanet:482 property_value: excluded_subClassOf MONDO:0005093 {source="DOID:7365", source="EFO:1000722", source="MESH:D000796"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3599 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6835/kimura-disease xsd:anyURI {source="GARD:0006835"} [Term] id: EFO:1000723 name: leg dermatosis def: "A nonspecific term used to denote any cutaneous lesion or group of lesions, or eruptions of any type on the leg. (From Stedman, 25th ed)" [MESH:D007868] def: "dermatosis in the leg" [] synonym: "leg dermatosis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:3142 {source="MONDO:equivalentTo", source="EFO:1000723"} xref: MESH:D007868 {source="MONDO:equivalentTo", source="DOID:3142"} xref: MONDO:0006569 xref: UMLS:C0023219 {source="MONDO:equivalentTo", source="DOID:3142"} is_a: EFO:0000701 {source="DOID:3142", source="EFO:1000723", source="MESH:D007868"} ! skin disease property_value: exactMatch DOID:3142 property_value: exactMatch http://identifiers.org/mesh/D007868 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023219 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000724 name: lichen disease def: "A long-term skin condition that mainly affects the skin of the genitals. It usually causes itching and white patches to appear on the affected skin." [EFO:1000724] def: "a long-term skin condition that mainly affects the skin of the genitals. It usually causes itching and white patches to appear on the affected skin." [] synonym: "lichen" EXACT [] synonym: "lichen condition" RELATED [] synonym: "lichen disease" EXACT [] {comment="preferred label from MONDO"} synonym: "lichen sclerosus" EXACT [] xref: DOID:8574 {source="MONDO:equivalentTo", source="EFO:1000724"} xref: ICD10:L28 xref: ICD9:697 {source="DOID:8574"} xref: ICD9:697.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:697.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8574"} xref: MONDO:0006570 xref: SCTID:88996004 {source="MONDO:equivalentTo", source="DOID:8574"} xref: UMLS:C0023643 {source="MONDO:equivalentTo", source="DOID:8574"} is_a: EFO:0000701 {source="DOID:8574", source="EFO:1000724"} ! skin disease property_value: definition:citation http://www.nhs.uk/conditions/lichen-sclerosus/Pages/Introduction.aspx xsd:string property_value: exactMatch DOID:8574 property_value: exactMatch http://identifiers.org/snomedct/88996004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023643 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000725 name: lichen nitidus def: "A chronic inflammatory disease characterized by shiny, flat-topped, usually flesh-colored micropapules no larger than the head of a pin. Lesions are localized in the early stages, found chiefly on the lower abdomen, penis, and inner surface of the thighs. Distribution may become generalized as the disease progresses." [MESH:D017513] def: "a chronic inflammatory disease of unknown etiology characterized by 1–2 mm, discrete and uniform, shiny, flat-topped, pale flesh-colored or reddish-brown papules that may appear as hypopigmented against dark skin." [] synonym: "lichen nitidus" EXACT [] {comment="preferred label from MONDO"} synonym: "Pinkus' disease" EXACT [DOID:8573] xref: DOID:8573 {source="MONDO:equivalentTo", source="EFO:1000725"} xref: ICD10CM:L44.1 {source="MONDO:equivalentTo", source="DOID:8573"} xref: ICD9:697.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8573"} xref: MedDRA:10024428 xref: MESH:D017513 {source="MONDO:equivalentTo", source="DOID:8573"} xref: MONDO:0006571 xref: SCTID:25147002 {source="MONDO:relatedTo", source="DOID:8573"} xref: SCTID:41890004 {source="MONDO:equivalentTo", source="DOID:8573"} xref: UMLS:C0162849 {source="MONDO:equivalentTo", source="DOID:8573"} xref: Wikipedia:Lichen_nitidus {source="EFO:1000725"} is_a: EFO:1000724 {source="DOID:8573", source="EFO:1000725"} ! lichen disease property_value: exactMatch DOID:8573 property_value: exactMatch http://identifiers.org/mesh/D017513 property_value: exactMatch http://identifiers.org/snomedct/41890004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162849 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L44.1 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000726 name: lichen planus def: "A chronic, recurrent, pruritic inflammatory disorder of unknown etiology that affects the skin and mucus membranes. It presents with rashes and papules that tend to resolve spontaneously. It may be associated with hepatitis C. Certain drugs that contain arsenic or bismuth are associated with reactions mimicking lichen planus." [NCIT:P378] def: "A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes. The cause is not known." [] synonym: "lichen planus" EXACT [] {comment="preferred label from MONDO"} synonym: "lichen ruber planus" EXACT [DOID:9201] synonym: "Lichen, ruber planus" EXACT [] synonym: "lichen, ruber planus" EXACT [DOID:9201] synonym: "ruber planus" RELATED [] xref: DOID:9201 {source="MONDO:equivalentTo", source="EFO:1000726"} xref: ICD10:L43 xref: ICD10CM:L43 {source="MONDO:equivalentTo", source="DOID:9201"} xref: ICD9:697.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9201"} xref: MedDRA:10024429 xref: MESH:D008010 {source="MONDO:equivalentTo", source="DOID:9201"} xref: MONDO:0006572 xref: NCIT:C3189 {source="MONDO:equivalentTo", source="DOID:9201"} xref: SCTID:4776004 {source="MONDO:equivalentTo", source="DOID:9201"} xref: UMLS:C0023646 {source="MONDO:equivalentTo", source="NCIT:C3189", source="DOID:9201"} is_a: EFO:1000724 {source="DOID:9201", source="EFO:1000726"} ! lichen disease is_a: MONDO:0002406 {source="NCIT:C3189"} ! dermatitis property_value: exactMatch DOID:9201 property_value: exactMatch http://identifiers.org/mesh/D008010 property_value: exactMatch http://identifiers.org/snomedct/4776004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023646 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L43 property_value: exactMatch NCIT:C3189 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000727 name: lipodystrophy def: "A congenital or acquired disorder characterized by abnormal loss or redistribution of the adipose tissue in the body." [NCIT:P378] def: "a medical condition characterized by abnormal or degenerative conditions of the body's adipose tissue. (\"Lipo\" is Greek for \"fat\", and \"dystrophy\" is Greek for \"abnormal or degenerative condition\".)" [] synonym: "lipodsystrophic syndrome" EXACT [NCIT:C97093] synonym: "lipodsystrophic syndromes" EXACT [NCIT:C97093] synonym: "lipodystrophy" EXACT [] {comment="preferred label from MONDO"} synonym: "lipodystrophy" EXACT [MONDO:ambiguous] synonym: "lipodystrophy (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:811 {source="EFO:1000727", source="MONDO:equivalentTo"} xref: HP:0009125 {source="MONDO:otherHierarchy"} xref: ICD9:272.6 {source="DOID:811", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10024608 xref: MESH:D008060 {source="DOID:811", source="MONDO:equivalentTo"} xref: MONDO:0006573 xref: NCIT:C97093 {source="DOID:811", source="MONDO:equivalentTo"} xref: SCTID:71325002 {source="DOID:811", source="MONDO:equivalentTo"} xref: UMLS:C0023787 {source="DOID:811", source="NCIT:C97093", source="MONDO:equivalentTo"} xref: Wikipedia:Lipodystrophy {source="EFO:1000727"} is_a: EFO:0000589 {source="MESH:D008060/inferred", source="NCIT:C97093"} ! metabolic disease is_a: EFO:0000701 {source="DOID:811", source="EFO:1000727", source="MESH:D008060/inferred"} ! skin disease property_value: exactMatch DOID:811 property_value: exactMatch http://identifiers.org/mesh/D008060 property_value: exactMatch http://identifiers.org/snomedct/71325002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023787 property_value: exactMatch NCIT:C97093 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000589 "lipodystrophy (disease)" xsd:string [Term] id: EFO:1000728 name: lipomatosis def: "A neoplastic process characterized by diffuse overgrowth of mature adipose tissue." [NCIT:C3193] def: "an autosomal dominant condition in which multiple lipomas are present on the body. Many discrete, encapsulated lipomas form on the trunk and extremities, with relatively few on the head and shoulders." [] synonym: "Launois-Bensaude syndrome" EXACT [NCIT:C3193] synonym: "lipomatosis" EXACT [] {comment="preferred label from MONDO"} synonym: "lipomatosis" EXACT [NCIT:C3193] synonym: "Madelung disease" EXACT [NCIT:C3193] synonym: "Madelung's disease" EXACT [NCIT:C3193] xref: DOID:3153 {source="EFO:1000728", source="MONDO:equivalentTo"} xref: ICD9:272.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10061228 xref: MedDRA:10084242 xref: MESH:D008068 {source="MONDO:equivalentTo", source="DOID:3153"} xref: MONDO:0006574 xref: NCIT:C3193 {source="MONDO:equivalentTo"} xref: SCTID:402693001 {source="MONDO:equivalentTo", source="DOID:3153"} xref: UMLS:C0023801 {source="NCIT:C3193", source="MONDO:equivalentTo", source="DOID:3153"} xref: Wikipedia:Lipomatosis {source="EFO:1000728"} is_a: EFO:0000701 ! skin disease is_a: MONDO:0044983 {source="NCIT:C3193"} ! benign lipomatous neoplasm property_value: exactMatch DOID:3153 property_value: exactMatch http://identifiers.org/mesh/D008068 property_value: exactMatch http://identifiers.org/snomedct/402693001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023801 property_value: exactMatch NCIT:C3193 property_value: excluded_subClassOf MONDO:0005093 {source="DOID:3153", source="EFO:1000728", source="MESH:D008068"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000729 name: loiasis def: "A filariasis that involves parasitic infection of the skin and eyes caused by the nematode Loa loa, which is transmitted through the bite of a deer fly or mango fly. The disease is characterized by episodic angioedema in the arms and legs, and cyst-like enlargements of the connective tissue around the sheaths of muscle tendons. Dead worms may cause chronic abscesses, which may lead to the formation of granulomatous reactions and fibrosis." [] def: "Loiasis is a form of filariasis (see this term), caused by the parasitic worm Loa loa, endemic to the forest and savannah regions of Central and Western Africa. Loiasis may either be asymptomatic or manifest as a large, transient area of localized, non-erythematous subcutaneous edema (Calabar swellings), adult worm migration through the sub-conjunctiva (''African eye worm'') and pruritus. Generalized itching, hives, muscle pains, arthralgias, fatigue, and adult worms visibly migrating under the surface of the skin may be observed. Severe complications such as encephalopathy have been reported in highly infected individuals receiving ivermectin during mass drug administration programs for the control of onchocerciasis and lymphatic filariasis." [Orphanet:2404] subset: gard_rare {source="GARD:0003283"} subset: ordo_disease {source="Orphanet:2404"} synonym: "African eye worm" RELATED [GARD:0003283] synonym: "Loa loa filariasis" RELATED [GARD:0003283] synonym: "loiasis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:13523 {source="EFO:1000729", source="MONDO:equivalentTo"} xref: ICD10CM:B74.3 {source="MONDO:equivalentTo", source="Orphanet:2404", source="DOID:13523", source="Orphanet:2404/e"} xref: ICD9:125.2 {source="DOID:13523"} xref: MedDRA:10024797 {source="Orphanet:2404", source="Orphanet:2404/e"} xref: MESH:D008118 {source="MONDO:equivalentTo", source="Orphanet:2404", source="DOID:13523", source="Orphanet:2404/e"} xref: MONDO:0016566 xref: NCIT:C34784 {source="MONDO:equivalentTo", source="DOID:13523"} xref: Orphanet:2404 {source="MONDO:equivalentTo"} xref: SCTID:44250009 {source="MONDO:equivalentTo", source="DOID:13523"} xref: UMLS:C0023968 {source="MONDO:equivalentTo", source="NCIT:C34784", source="Orphanet:2404", source="DOID:13523", source="Orphanet:2404/e"} is_a: EFO:0000701 ! skin disease is_a: MONDO:0016075 {source="DOID:13523", source="ICD10CM:B74.3", source="MESH:D008118", source="Orphanet:2404"} ! filariasis property_value: closeMatch http://identifiers.org/meddra/10024797 property_value: exactMatch DOID:13523 property_value: exactMatch http://identifiers.org/mesh/D008118 property_value: exactMatch http://identifiers.org/snomedct/44250009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023968 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B74.3 property_value: exactMatch NCIT:C34784 property_value: exactMatch Orphanet:2404 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3283/loiasis xsd:anyURI {source="GARD:0003283"} [Term] id: EFO:1000730 name: Ludwig's angina def: "a serious, potentially life-threatening cellulitis,or connective tissue infection, of the floor of the mouth, usually occurring in adults with concomitant dental infections and if left untreated, may obstruct the airways, necessitating tracheotomy." [] def: "Severe cellulitis of the submaxillary space with secondary involvement of the sublingual and submental space. It usually results from infection in the lower molar area or from a penetrating injury to the mouth floor. (From Dorland, 27th ed)" [MESH:D008158] synonym: "angina ludovici" EXACT [] synonym: "cellulitis (disease) of mouth floor" EXACT [] synonym: "cellulitis of floor of mouth" EXACT [DOID:4558] synonym: "Ludwig angina" EXACT [DOID:4558] synonym: "Ludwig's angina" EXACT [] {comment="preferred label from MONDO"} synonym: "mouth floor cellulitis (disease)" EXACT [MONDO:patterns/location] xref: DOID:4558 {source="MONDO:equivalentTo", source="EFO:1000730"} xref: ICD9:528.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D008158 {source="DOID:4558", source="MONDO:equivalentTo"} xref: MONDO:0006576 xref: SCTID:196542004 {source="DOID:4558", source="MONDO:equivalentTo"} xref: UMLS:C0024081 {source="DOID:4558", source="MONDO:equivalentTo"} xref: UMLS:C3247204 {source="MONDO:equivalentTo"} xref: Wikipedia:Ludwig's_angina {source="EFO:1000730"} is_a: EFO:0003035 {source="DOID:4558", source="EFO:1000730", source="MONDO:Redundant"} ! cellulitis is_a: EFO:1001047 {source="MESH:D008158", source="MONDO:Redundant"} ! mouth disease property_value: exactMatch DOID:4558 property_value: exactMatch http://identifiers.org/mesh/D008158 property_value: exactMatch http://identifiers.org/snomedct/196542004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024081 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3247204 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000731 name: maxillary sinus cholesteatoma def: "A cholesteatoma located_in paranasal sinus." [] def: "A rare, progressive, non-neoplastic pathologic process that arises from the maxillary sinus mucosal epithelium. It is characterized by the proliferation of keratinizing squamous epithelium and the formation of keratin sheets. It may lead to bone erosion and infections. Surgical removal is the appropriate treatment." [NCIT:P378] synonym: "cholesteatoma (disease) of maxillary sinus" EXACT [] synonym: "maxillary sinus cholesteatoma" EXACT [] {comment="preferred label from MONDO"} synonym: "maxillary sinus cholesteatoma (disease)" EXACT [MONDO:patterns/location] xref: DOID:867 {source="MONDO:equivalentTo", source="EFO:1000731"} xref: MONDO:0006577 xref: NCIT:C35868 {source="DOID:867", source="MONDO:equivalentTo"} xref: UMLS:C1334644 {source="DOID:867", source="MONDO:equivalentTo", source="NCIT:C35868"} is_a: EFO:0009481 {source="DOID:867", source="MONDO:Redundant", source="NCIT:C35868/inferred"} ! paranasal sinus disease is_a: EFO:1000675 {source="DOID:867", source="EFO:1000731", source="MONDO:Redundant", source="NCIT:C35868"} ! cholesteatoma is_a: EFO:1001047 ! mouth disease is_a: MONDO:0023369 ! disorder of facial skeleton property_value: exactMatch DOID:867 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334644 property_value: exactMatch NCIT:C35868 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000732 name: mediastinal lipomatosis def: "a condition where there is a deposition of a large amount of mature adipose tissue in the mediastinum. It is a relatively common benign cause of mediastinal widening." [] def: "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the mediastinum." [NCIT:C27488] synonym: "mediastinal lipomatosis" EXACT [] {comment="preferred label from MONDO"} synonym: "mediastinal lipomatosis" EXACT [NCIT:C27488] xref: DOID:3926 {source="MONDO:equivalentTo", source="EFO:1000732"} xref: MONDO:0006578 xref: NCIT:C27488 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3926"} xref: UMLS:C1334662 {source="NCIT:C27488", source="MONDO:equivalentTo", source="DOID:3926"} is_a: EFO:1000728 {source="DOID:3926", source="EFO:1000732", source="NCIT:C27488"} ! lipomatosis property_value: definition:citation http://radiopaedia.org/articles/mediastinal-lipomatosis xsd:string property_value: exactMatch DOID:3926 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334662 property_value: exactMatch NCIT:C27488 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000733 name: melanoacanthoma def: "A benign, darkly pigmented skin lesion characterized by proliferation of keratinocytes and melanocytes." [NCIT:P378] def: "a common, benign, darkly pigmented cutaneous condition characterized by a skin lesion with a dull or lackluster surface." [] synonym: "melanoacanthoma" EXACT [] {comment="preferred label from MONDO"} synonym: "pigmented seborrheic keratosis" EXACT [] xref: DOID:11684 {source="MONDO:equivalentTo", source="EFO:1000733"} xref: MONDO:0006579 xref: NCIT:C27548 {source="MONDO:equivalentTo", source="DOID:11684"} xref: SCTID:394727000 {source="MONDO:equivalentTo", source="DOID:11684"} xref: UMLS:C1321683 {source="MONDO:equivalentTo", source="NCIT:C27548", source="DOID:11684"} xref: Wikipedia:Melanocanthoma {source="EFO:1000733"} is_a: EFO:0005584 {source="DOID:11684", source="EFO:1000733", source="NCIT:C27548"} ! seborrheic keratosis property_value: exactMatch DOID:11684 property_value: exactMatch http://identifiers.org/snomedct/394727000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1321683 property_value: exactMatch NCIT:C27548 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000734 name: miliaria def: "a skin disease marked by small and itchy rashes. Miliariais a common ailment in hot and humid conditions, such as in the tropics and during the summer season." [] def: "A small (one mm or less) vesicular, papular or pustular monomorphous rash, which is associated with heat, fever or occlusion of sweat glands." [NCIT:P378] synonym: "heat rash" EXACT [NCIT:C34820] synonym: "miliaria" EXACT [] {comment="preferred label from MONDO"} synonym: "prickly heat" EXACT [NCIT:C34820] synonym: "sweat rash" EXACT [] xref: DOID:1382 {source="MONDO:equivalentTo", source="EFO:1000734"} xref: MedDRA:10027627 xref: MedDRA:10036667 xref: MESH:D008883 {source="MONDO:equivalentTo", source="DOID:1382"} xref: MONDO:0006580 xref: NCIT:C34820 {source="MONDO:equivalentTo", source="DOID:1382"} xref: SCTID:63951004 {source="MONDO:equivalentTo", source="DOID:1382"} xref: UMLS:C0026113 {source="MONDO:equivalentTo", source="NCIT:C34820", source="DOID:1382"} xref: Wikipedia:Miliaria {source="EFO:1000734"} is_a: EFO:1000772 {source="DOID:1382", source="EFO:1000734", source="MESH:D008883"} ! sweat gland disease is_a: MONDO:0002254 {source="NCIT:C34820"} ! syndromic disease property_value: exactMatch DOID:1382 property_value: exactMatch http://identifiers.org/mesh/D008883 property_value: exactMatch http://identifiers.org/snomedct/63951004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026113 property_value: exactMatch NCIT:C34820 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000735 name: miliaria rubra def: "Miliaria rubraor prickly heat occurs deeper in the epidermis (outside layer of skin) and results in very itchy red papules (bumps)." [EFO:1000735] synonym: "Miliaria crystallina" EXACT [] synonym: "miliaria crystallina" RELATED [DOID:11153] synonym: "miliaria rubra" EXACT [] {comment="preferred label from MONDO"} synonym: "Prickly heat" EXACT [] synonym: "Prickly heat - miliaria" EXACT [] synonym: "prickly heat - miliaria" EXACT [DOID:11153] synonym: "Sudamina" EXACT [] synonym: "sudamina" EXACT [DOID:11153] xref: DOID:11153 {source="MONDO:equivalentTo", source="EFO:1000735"} xref: ICD9:705.1 {source="DOID:11153"} xref: MedDRA:10027628 xref: MONDO:0006581 xref: SCTID:44279002 {source="MONDO:equivalentTo", source="DOID:11153"} xref: UMLS:C0162423 {source="MONDO:equivalentTo", source="DOID:11153"} xref: UMLS:C3241961 {source="MONDO:equivalentTo"} is_a: EFO:1000734 {source="DOID:11153", source="EFO:1000735"} ! miliaria property_value: definition:citation http://www.dermnetnz.org/hair-nails-sweat/miliaria.html xsd:string property_value: exactMatch DOID:11153 property_value: exactMatch http://identifiers.org/snomedct/44279002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162423 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3241961 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000736 name: mongolian spot def: "A benign, flat, congenital birthmark, with wavy borders and an irregular shape. The color is caused by melanocytes, melanin-containing cells, that are usually located in the surface of the skin (the epidermis), but are in the deeper region (the dermis) in the location of the spot." [Wikipedia:Mongolian_spot] def: "congenital dermal melanocytosis, and dermal melanocytosis is a benign, flat, congenital birthmark with wavy borders and irregular shape." [] synonym: "blue sacral spot" EXACT [NCIT:C3945] synonym: "congenital dermal melanocytosis" EXACT [Wikipedia:Mongolian_spot] synonym: "Mongolian blue spot" EXACT [] synonym: "Mongolian Macula" EXACT [] synonym: "Mongolian macula" EXACT [DOID:4702, NCIT:C3945] synonym: "mongolian spot" EXACT [] {comment="preferred label from MONDO"} xref: DOID:4702 {source="MONDO:equivalentTo", source="EFO:1000736"} xref: MedDRA:10027815 xref: MESH:D049328 {source="MONDO:equivalentTo", source="DOID:4702"} xref: MONDO:0006582 xref: NCIT:C3945 {source="MONDO:equivalentTo", source="DOID:4702"} xref: SCTID:40467008 {source="MONDO:equivalentTo", source="DOID:4702"} xref: UMLS:C0265985 {source="MONDO:equivalentTo", source="DOID:4702", source="NCIT:C3945"} xref: Wikipedia:Mongolian_spot {source="EFO:1000736"} is_a: EFO:0000701 {source="DOID:4702", source="EFO:1000736", source="NCIT:C3945/inferred"} ! skin disease property_value: exactMatch DOID:4702 property_value: exactMatch http://identifiers.org/mesh/D049328 property_value: exactMatch http://identifiers.org/snomedct/40467008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265985 property_value: exactMatch NCIT:C3945 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000737 name: multiple symmetric lipomatosis def: "a rare condition which is characterized with large symmetrical accumulation of noncapsulated fat tissue in upper arms, neck, and shoulder areas. The disease etiology is unknown, with the highest incidence in the Mediterranean region." [] def: "Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures)." [Orphanet:2398] subset: gard_rare {source="GARD:0006957"} subset: ordo_disease {source="Orphanet:2398"} synonym: "benign symmetrical lipomatosis" RELATED [GARD:0006957] synonym: "cephalothoracic lipodystrophy" EXACT [Orphanet:2398] synonym: "cervical symmetrical lipomatosis" EXACT [DOID:14116, NCIT:C4392] synonym: "familial benign cervical lipomatosis" EXACT [Orphanet:2398] synonym: "familial symmetric lipomatosis" RELATED [GARD:0006957] synonym: "Launois-Bensaude lipomatosis" EXACT [Orphanet:2398] synonym: "Launois-Bensaude syndrome" RELATED [GARD:0006957] synonym: "Launois-Bensaude's lipomatosis" EXACT [DOID:14116] synonym: "lipodystrophy, cephalothoracic" EXACT [DOID:14116, OMIM:151800] synonym: "lipomatosis, familial benign cervical" EXACT [DOID:14116, OMIM:151800] synonym: "lipomatosis, multiple symmetric" RELATED [MONDO:Lexical, OMIM:151800] synonym: "Madelung disease" BROAD [Orphanet:2398] synonym: "Madelung's disease" EXACT [] synonym: "Madelung's disease" RELATED [GARD:0006957] synonym: "Madelung's neck" EXACT [DOID:14116] synonym: "MSL" EXACT [] synonym: "MSL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:151800] synonym: "multiple symmetric lipomatosis" EXACT [DOID:14116] synonym: "multiple symmetric lipomatosis" EXACT [] {comment="preferred label from MONDO"} synonym: "multiple symmetrical lipomatosis" EXACT [MONDO:0002521, NCIT:C4392] xref: DOID:14116 {source="MONDO:equivalentTo", source="EFO:1000737"} xref: DOID:3137 xref: MedDRA:10084240 xref: MONDO:0007908 xref: NCIT:C4392 {source="MONDO:equivalentTo", source="DOID:14116"} xref: OMIM:151800 {source="Orphanet:2398", source="MONDO:equivalentTo", source="Orphanet:2398/e", source="DOID:14116"} xref: Orphanet:2398 {source="OMIM:151800", source="MONDO:equivalentTo"} xref: SCTID:238902007 {source="DOID:3137", source="MONDO:equivalentTo"} xref: UMLS:C0023804 {source="OMIM:151800", source="Orphanet:2398", source="DOID:3137", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C0024445 {source="NCIT:C4392", source="Orphanet:2398", source="MONDO:equivalentObsolete", source="DOID:14116"} xref: UMLS:CN201658 {source="MONDO:equivalentTo"} is_a: EFO:1000728 {source="DOID:14116", source="EFO:1000737", source="MONDO:Redundant", source="NCIT:C4392"} ! lipomatosis is_a: MONDO:0000652 ! integumentary system benign neoplasm is_a: MONDO:0019296 {source="Orphanet:2398"} ! subcutaneous tissue disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0015949"} ! rare property_value: definition:citation http://www.hindawi.com/journals/crim/2013/836903/ xsd:string property_value: exactMatch DOID:14116 property_value: exactMatch http://identifiers.org/snomedct/238902007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023804 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201658 property_value: exactMatch https://omim.org/entry/151800 property_value: exactMatch NCIT:C4392 property_value: exactMatch Orphanet:2398 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6957/multiple-symmetric-lipomatosis xsd:anyURI {source="GARD:0006957"} [Term] id: EFO:1000738 name: necrobiosis lipoidica def: "a necrotising skin condition that usually occurs in patients with diabetes mellitus but can also be associated with rheumatoid arthritis." [] def: "Necrobiosis lipoidica is a rare skin disorder of collagen degeneration. It is characterized by a rash that occurs on the lower legs. It is more common in women, and there are usually several spots. They are slightly raised shiny red-brown patches. The centers are often yellowish and may develop open sores that are slow to heal. Infections can occur but are uncommon. Some patients have itching, pain, or abnormal sensations. It usually occurs more often in people with diabetes, in people with a family history of diabetes or a tendency to get diabetes, but can occur in nondiabetic people. About 11% to 65% of patients with necrobiosis lipoidica also have diabetes, but the exact cause is still not known. Treatment is difficult. The disease is typically chronic with variable progression and scarring." [https://rarediseases.info.nih.gov/diseases/13040/necrobiosis-lipoidica] subset: gard_rare {source="GARD:0013040"} subset: ordo_disease synonym: "necrobiosis lipoidica" EXACT [] {comment="preferred label from MONDO"} synonym: "necrobiosis lipoidica" EXACT [DOID:3486] synonym: "necrobiosis lipoidica diabeticorum (formerly)" RELATED DEPRECATED [GARD:0013040] xref: DOID:3486 {source="EFO:1000738", source="MONDO:equivalentTo"} xref: MedDRA:10028847 xref: MESH:D009335 {source="DOID:3486", source="MONDO:equivalentTo"} xref: MONDO:0006583 xref: NCIT:C34840 {source="DOID:3486", source="MONDO:equivalentTo"} xref: Orphanet:542592 {source="MONDO:equivalentTo"} xref: SCTID:9418005 {source="DOID:3486", source="MONDO:equivalentTo"} xref: UMLS:C0027538 {source="DOID:3486", source="MONDO:equivalentTo", source="NCIT:C34840"} xref: Wikipedia:Necrobiosis_lipoidica {source="EFO:1000738"} is_a: MONDO:0021154 {source="Orphanet:542592"} ! dermis disorder property_value: exactMatch DOID:3486 property_value: exactMatch http://identifiers.org/mesh/D009335 property_value: exactMatch http://identifiers.org/snomedct/9418005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027538 property_value: exactMatch NCIT:C34840 property_value: exactMatch Orphanet:542592 property_value: excluded_subClassOf MONDO:0005093 {source="DOID:3486", source="EFO:1000738", source="MESH:D009335/inferred", source="NCIT:C34840/inferred"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13040/necrobiosis-lipoidica xsd:anyURI {source="GARD:0013040"} [Term] id: EFO:1000739 name: neonatal jaundice def: "A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant." [] synonym: "neonatal hyperbilirubinemia" EXACT [] synonym: "neonatal icterus" EXACT [] xref: DOID:2383 xref: ICD10:P59 xref: MedDRA:10028953 is_a: EFO:0010238 ! perinatal disease is_a: EFO:1000755 ! pigmentation disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000740 name: neurodermatitis def: "an itchy skin disease similar to atopic dermatitis. It tends to result in focal patches—one or many—that are due to frequent rubbing or scratching of the same area over time." [] def: "Skin findings arising from repeated rubbing, picking or scratching of a real or imagined irritation of the skin." [NCIT:P378] synonym: "lichen simplex Chronicus" EXACT [NCIT:C111963] synonym: "lichen simplex chronicus" EXACT [] synonym: "neurodermatitis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:3309 {source="EFO:1000740", source="MONDO:equivalentTo"} xref: MedDRA:10029263 xref: MESH:D009450 {source="MONDO:equivalentTo", source="DOID:3309"} xref: MONDO:0006585 xref: NCIT:C111963 {source="MONDO:equivalentTo", source="DOID:3309"} xref: SCTID:267854005 {source="MONDO:equivalentTo", source="DOID:3309"} xref: UMLS:C0027822 {source="MONDO:equivalentTo", source="NCIT:C111963", source="DOID:3309"} xref: UMLS:C0149922 {source="MONDO:equivalentTo"} is_a: MONDO:0002406 {source="DOID:3309", source="MESH:D009450", source="NCIT:C111963"} ! dermatitis property_value: definition:citation https://nationaleczema.org/eczema/types-of-eczema/neurodermatitis/ xsd:string property_value: exactMatch DOID:3309 property_value: exactMatch http://identifiers.org/mesh/D009450 property_value: exactMatch http://identifiers.org/snomedct/267854005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027822 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149922 property_value: exactMatch NCIT:C111963 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000741 name: neurotic excoriation def: "A condition in which patients produce skin lesions through repetitive, compulsive excoriation of their skin." [EFO:1000741] def: "a condition in which patients produce skin lesions through repetitive, compulsive excoriation of their skin." [] synonym: "dermatitis artefacta" EXACT [DOID:9165] synonym: "dermatitis factitia" EXACT [DOID:9165] synonym: "dermatitis factitia [artefacta]" EXACT [DOID:9165, ICD9CM:698.4] synonym: "dermatitis ficta" EXACT [DOID:9165] synonym: "factitious skin disease" EXACT [DOID:9165] synonym: "neurotic excoriation" EXACT [] {comment="preferred label from MONDO"} xref: DOID:9165 {source="MONDO:equivalentTo", source="EFO:1000741"} xref: ICD9:300.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:698.4 {source="DOID:9165"} xref: MedDRA:10078437 xref: MONDO:0006586 xref: SCTID:402736003 {source="MONDO:equivalentTo", source="DOID:9165"} xref: UMLS:C1274184 {source="MONDO:equivalentTo", source="DOID:9165"} xref: Wikipedia:Neurotic_excoriations {source="EFO:1000741"} is_a: MONDO:0002406 {source="DOID:9165"} ! dermatitis property_value: exactMatch DOID:9165 property_value: exactMatch http://identifiers.org/snomedct/402736003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1274184 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000742 name: nodular nonsuppurative panniculitis def: "a rare group of skin disorders characterized by tender, painful bumps below the surface of the skin (subcutaneous nodules) that usually lead to inflammation of the subcutaneous layer of fat (panniculitis). These nodules tend to be 1-2 centimeters in length and most often affect the legs and feet." [] def: "Nodular non-suppurative panniculitis, known as Weber-Christian disease (WCD), is a rare skin disorder characterized by recurring inflammation in the subcutaneous layer of fat." [Orphanet:33577] subset: ordo_disease {source="Orphanet:33577"} synonym: "idiopathic lobular panniculitis" EXACT [Orphanet:33577] synonym: "idiopathic nodular panniculitis" EXACT [Orphanet:33577] synonym: "nodular non-suppurative febrile panniculitis" EXACT [DOID:1525] synonym: "nodular non-suppurative panniculitis" EXACT [] {comment="preferred label from MONDO"} synonym: "nodular nonsuppurative panniculitis" EXACT [MONDO:0006587] synonym: "panniculitis nodular nonsuppurative" RELATED [GARD:0007879] synonym: "Pfeiffer-Weber-Christian syndrome" EXACT [Orphanet:33577] synonym: "Relapsing febrile nodular nonsuppurative panniculitis" EXACT [Orphanet:33577] synonym: "Relapsing febrile nodular panniculitis" EXACT [Orphanet:33577] synonym: "WCD" EXACT ABBREVIATION [Orphanet:33577] synonym: "Weber - Christian disease" EXACT [DOID:1525] synonym: "Weber Christian disease" RELATED [GARD:0007879] synonym: "Weber-Christian disease" EXACT [DOID:1525, Orphanet:33577] synonym: "Weber-Christian panniculitis" EXACT [Orphanet:33577] xref: DOID:1525 {source="MONDO:equivalentTo", source="EFO:1000742"} xref: MedDRA:10047883 {source="Orphanet:33577", source="Orphanet:33577/e"} xref: MESH:D010201 {source="Orphanet:33577", source="MONDO:equivalentTo", source="Orphanet:33577/e", source="DOID:1525"} xref: MONDO:0018063 xref: Orphanet:33577 {source="MONDO:equivalentTo"} xref: SCTID:33760009 {source="MONDO:equivalentTo", source="DOID:1525"} xref: UMLS:C0030328 {source="Orphanet:33577", source="MONDO:equivalentTo", source="Orphanet:33577/e", source="DOID:1525"} is_a: EFO:1000746 {source="DOID:1525", source="EFO:1000742", source="MESH:D010201"} ! panniculitis is_a: MONDO:0019296 {source="Orphanet:33577"} ! subcutaneous tissue disorder property_value: closeMatch http://identifiers.org/meddra/10047883 property_value: definition:citation https://rarediseases.info.nih.gov/gard/7879/nodular-nonsuppurative-panniculitis/resources/1 xsd:string property_value: exactMatch DOID:1525 property_value: exactMatch http://identifiers.org/mesh/D010201 property_value: exactMatch http://identifiers.org/snomedct/33760009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030328 property_value: exactMatch Orphanet:33577 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000743 name: obsolete_nonepidermolytic palmoplantar keratoderma property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.98" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use : Orphanet:2337 label : Non-epidermolytic palmoplantar keratoderma" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_2337 [Term] id: EFO:1000744 name: occupational dermatitis def: "an inflammation of the skin caused by the working environment or by skin contact with a damaging substance. The symptoms and seriousness of the condition vary widely. Symptoms usually begin with redness and irritation, and occasionally, swelling." [] def: "Contact dermatitis associated with allergens or irritants found in the workplace." [NCIT:P378] synonym: "occupational allergic contact dermatitis" EXACT [DOID:4404] synonym: "occupational dermatitis" EXACT [] {comment="preferred label from MONDO"} synonym: "occupational dermatitis" EXACT [DOID:4404, NCIT:C34859] synonym: "occupational eczema" EXACT [DOID:4404] synonym: "occupational eczema (disorder) [ambiguous]" EXACT [DOID:4404] xref: DOID:4404 {source="MONDO:equivalentTo", source="EFO:1000744"} xref: ICD9:692.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10030012 xref: MESH:D009783 {source="DOID:4404", source="MONDO:equivalentTo"} xref: MONDO:0006589 xref: NCIT:C34859 {source="DOID:4404", source="MONDO:equivalentTo"} xref: SCTID:402587003 {source="DOID:4404", source="MONDO:equivalentTo"} xref: UMLS:C0028796 {source="NCIT:C34859", source="DOID:4404", source="MONDO:equivalentTo"} is_a: EFO:0005319 {source="DOID:4404", source="EFO:1000744", source="MESH:D009783"} ! contact dermatitis is_a: MONDO:0100366 ! occupational disorder property_value: definition:citation http://www.debgroup.com/uk/learning-zone/skin-care.../occupational-dermatitis xsd:string property_value: exactMatch DOID:4404 property_value: exactMatch http://identifiers.org/mesh/D009783 property_value: exactMatch http://identifiers.org/snomedct/402587003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0028796 property_value: exactMatch NCIT:C34859 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000745 name: palmoplantar keratosis def: "A group of autosomal dominant, autosomal recessive, X-linked inherited or acquired disorders characterized by the thickening of the palms and soles due to hyperkeratosis." [NCIT:C34748] def: "A keratosis characterized by abnormal thickening of the palms and the soles." [] synonym: "keratoderma, palmoplantar" RELATED [GARD:0008167] synonym: "Keratosis palmaris et plantaris" EXACT [] synonym: "keratosis palmaris et plantaris" EXACT [DOID:3390] synonym: "Palmoplantar Keratoderma" EXACT [] synonym: "palmoplantar keratoderma" EXACT [DOID:3390, NCIT:C34748] synonym: "palmoplantar keratosis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:3390 {source="MONDO:equivalentTo", source="EFO:1000745"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MONDO:0006590 xref: NCIT:C34748 {source="MONDO:equivalentTo", source="DOID:3390"} xref: SCTID:706885006 {source="MONDO:equivalentTo", source="DOID:3390"} is_a: EFO:1000720 {source="DOID:3390", source="EFO:1000745", source="NCIT:C34748"} ! keratosis property_value: exactMatch DOID:3390 property_value: exactMatch http://identifiers.org/snomedct/706885006 property_value: exactMatch NCIT:C34748 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000746 name: panniculitis def: "a group of diseases whose hallmark is inflammation of subcutaneous adipose tissue (the fatty layer under the skin - panniculus adiposus). Symptoms include tender skin nodules, and systemic signs such as weight loss and fatigue." [] def: "Inflammation of the subcutaneous adipose tissue." [NCIT:P378] synonym: "inflammation of subcutaneous adipose tissue" EXACT [] synonym: "panniculitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Subcutaneous adipose tissue" EXACT [NCIT:C33645] synonym: "subcutaneous adipose tissue inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "Subcutaneous tissue" EXACT [NCIT:C33645] synonym: "subcutis" EXACT [NCIT:C33645] xref: DOID:1526 {source="MONDO:equivalentTo", source="EFO:1000746"} xref: ICD9:729.3 {source="DOID:1526"} xref: ICD9:729.30 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1526"} xref: ICD9:729.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10033675 xref: MedDRA:10033680 xref: MedDRA:10033681 xref: MESH:D015434 {source="MONDO:equivalentTo", source="DOID:1526"} xref: MONDO:0006591 xref: NCIT:C33645 {source="MONDO:equivalentTo"} xref: SCTID:22125009 {source="MONDO:equivalentTo", source="DOID:1526"} xref: UMLS:C0030326 {source="MONDO:equivalentTo", source="DOID:1526"} xref: Wikipedia:Panniculitis {source="EFO:1000746"} is_a: EFO:0000701 ! skin disease is_a: EFO:0009903 ! inflammatory disease is_a: EFO:1001986 {source="MESH:D015434", source="MONDO:Redundant"} ! connective tissue disease property_value: exactMatch DOID:1526 property_value: exactMatch http://identifiers.org/mesh/D015434 property_value: exactMatch http://identifiers.org/snomedct/22125009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030326 property_value: exactMatch NCIT:C33645 property_value: excluded_subClassOf MONDO:0005546 {source="DOID:1526"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000747 name: parapsoriasis def: "one of a group of skin disorders that are characterized primarily by their resemblance to psoriasis (red, scaly lesions), rather than by their underlying etiology. Neoplasms can develop from parapsoriasis. For example, it can develop into cutaneous T-cell lymphoma." [] def: "Parapsoriasis describes a group ofskin diseases that can be characterized by scaly patches or slightly elevated papules and/or plaques (red, scaly patches) that have a resemblance to psoriasis. However, this description includes several inflammatory cutaneous diseases that are unrelated with respect to pathogenesis, histopathology, and response to treatment. Because of the variation in clinical presentation and a lack of a specific diagnostic finding on histopathology, a uniformly accepted definition of parapsoriasis remains lacking. There are 2 general forms: a small plaque type, which is usually benign, and a large plaque type, which is a precursor of cutaneous T-cell lymphoma (CTCL).Treatment of small plaque parapsoriasis is unnecessary but can include emollients, topical tar preparations or corticosteroids, and/or phototherapy. Treatment of large plaque parapsoriasis is phototherapy or topical corticosteroids." [https://rarediseases.info.nih.gov/diseases/7328/parapsoriasis] subset: gard_rare {source="GARD:0007328"} synonym: "digitate dermatosis" RELATED [GARD:0007328] synonym: "parapsoriasis" EXACT [] {comment="preferred label from MONDO"} synonym: "parapsoriasis en plaque" RELATED [GARD:0007328] xref: DOID:9088 {source="MONDO:equivalentTo", source="EFO:1000747"} xref: ICD10:L41 xref: ICD10CM:L41 {source="MONDO:equivalentTo", source="DOID:9088"} xref: ICD9:696.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9088"} xref: MedDRA:10033898 xref: MESH:D010267 {source="MONDO:equivalentTo", source="DOID:9088"} xref: MONDO:0006592 xref: NCIT:C3312 {source="MONDO:equivalentTo", source="DOID:9088"} xref: SCTID:88233000 {source="MONDO:equivalentTo", source="DOID:9088"} xref: UMLS:C0030491 {source="MONDO:equivalentTo", source="NCIT:C3312", source="DOID:9088"} xref: Wikipedia:Parapsoriasis {source="EFO:1000747"} is_a: EFO:0000676 {source="DOID:9088", source="EFO:1000747"} ! psoriasis property_value: exactMatch DOID:9088 property_value: exactMatch http://identifiers.org/mesh/D010267 property_value: exactMatch http://identifiers.org/snomedct/88233000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030491 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L41 property_value: exactMatch NCIT:C3312 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7328/parapsoriasis xsd:anyURI {source="GARD:0007328"} [Term] id: EFO:1000748 name: pelvic lipomatosis def: "a disease of unknown cause, characterized by overgrowth of mature, nonmalignant fat cells in the pelvic region, especially in perivesical and perirectal spaces." [] def: "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the pelvic region. Clinical presentation includes complaints of back and abdominal pain, urinary frequency, perineal pain and constipation. It predominately affects black males." [NCIT:C27486] subset: gard_rare {source="GARD:0007350"} synonym: "Excess of mature unencapsulated fatty tissue in the pelvis" RELATED [GARD:0007350] synonym: "pelvic lipomatosis" EXACT [NCIT:C27486] synonym: "pelvic lipomatosis" EXACT [] {comment="preferred label from MONDO"} synonym: "pelvic lipomatosis (morphologic abnormality)" EXACT [DOID:3927] xref: DOID:3927 {source="MONDO:equivalentTo", source="EFO:1000748"} xref: MESH:C535549 {source="MONDO:equivalentTo", source="DOID:3927"} xref: MONDO:0006593 xref: NCIT:C27486 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3927"} xref: UMLS:C0406608 {source="NCIT:C27486", source="MONDO:equivalentTo", source="DOID:3927"} is_a: EFO:1000728 {source="DOID:3927", source="EFO:1000748", source="MESH:C535549", source="NCIT:C27486"} ! lipomatosis property_value: definition:citation http://www.medscape.com/viewarticle/452493_3 xsd:string property_value: exactMatch DOID:3927 property_value: exactMatch http://identifiers.org/mesh/C535549 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406608 property_value: exactMatch NCIT:C27486 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7350/pelvic-lipomatosis xsd:anyURI {source="GARD:0007350"} [Term] id: EFO:1000749 name: pemphigus def: "a rare group of blistering autoimmune diseases that affect the skin and mucous membranes." [] def: "Pemphigus is a group of chronic autoimmune skin diseases characterised by blisters formation on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, of which paraneoplastic pemphigus is extremely rare. [ Orphanet:63455 ]" [] def: "Pemphigus is a group of rare autoimmune diseases that cause blistering of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals).This conditioncan occur at any age, but often strikes people in middle or older age. Studies have shown that some populations may be at greater risk for certain types of pemphigus. For instance, people of Jewish descent and those from India, Southeast Europe, and the Middle East are at greater risk for pemphigus vulargis, while pemphigus foliaceus is more common in North America, Turkey, and South America. Pemphigus is a chronic disease which is best controlled by early diagnosis and treatment.Treatment includes steroids to reduce inflammation,drugs that suppress the immune system responseand antibiotics to treat associated infections. There are four main types of pemphigus: Pemphigus vulgaris Pemphigus foliaceus IgA pemphigus Paraneoplastic pemphigus" [https://rarediseases.info.nih.gov/diseases/7352/pemphigus] subset: gard_rare {source="GARD:0007352"} synonym: "pemphigus" EXACT [] {comment="preferred label from MONDO"} xref: DOID:9182 {source="EFO:1000749", source="MONDO:equivalentTo"} xref: ICD10:L10 xref: ICD10CM:L10 {source="DOID:9182", source="MONDO:equivalentTo"} xref: ICD9:694.4 {source="DOID:9182", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10034280 xref: MESH:D010392 {source="DOID:9182", source="MONDO:equivalentTo"} xref: MeSH:D010392 xref: MONDO:0006594 xref: NCIT:C34909 {source="DOID:9182", source="MONDO:equivalentTo"} xref: NCIt:C34909 xref: SCTID:65172003 {source="DOID:9182", source="MONDO:equivalentTo"} xref: UMLS:C0030807 {source="DOID:9182", source="MONDO:equivalentTo", source="NCIT:C34909"} xref: Wikipedia:Pemphigus {source="EFO:1000749"} is_a: EFO:0008598 {source="DOID:9182", source="EFO:1000749", source="EFO:1000749/inferred"} ! autoimmune bullous skin disease property_value: exactMatch DOID:9182 property_value: exactMatch http://identifiers.org/mesh/D010392 property_value: exactMatch http://identifiers.org/snomedct/65172003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030807 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L10 property_value: exactMatch NCIT:C34909 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7352/pemphigus xsd:anyURI {source="GARD:0007352"} [Term] id: EFO:1000750 name: perinatal jaundice due to hepatocellular damage def: "jaundice in perinates due to cellular damange of liver" [] def: "Jaundice in perinates due to cellular damange of liver." [EFO:1000750] synonym: "perinatal jaundice due to hepatocellular damage" EXACT [] {comment="preferred label from MONDO"} xref: DOID:11452 {source="MONDO:equivalentTo", source="EFO:1000750"} xref: ICD9:774.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11452"} xref: MedDRA:10034513 xref: MONDO:0006595 xref: SCTID:10877007 {source="MONDO:equivalentTo", source="DOID:11452"} xref: UMLS:C0158976 {source="MONDO:equivalentTo", source="DOID:11452"} is_a: EFO:0001421 {source="https://orcid.org/0000-0002-4142-7153"} ! liver disease is_a: EFO:1000739 ! neonatal jaundice property_value: exactMatch DOID:11452 property_value: exactMatch http://identifiers.org/snomedct/10877007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0158976 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000751 name: obsolete_photoallergic dermatitis def: "a form of allergic contact dermatitis in which the allergen must be activated by light to sensitize the allergic response, and to cause a rash or other systemic effects on subsequent exposure. The second and subsequent exposures produce photoallergic skin conditions which are often eczematous. In rare cases the victims die." [] synonym: "photoallergic dermatitis" EXACT [] synonym: "photoallergic eczema" EXACT [] synonym: "photoallergy" EXACT [] synonym: "photodermatitis" EXACT [] synonym: "sun poisoning" EXACT [] xref: DOID:3818 xref: Wikipedia:Photodermatitis property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.83" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use 'phototoxic dermatitis'" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_1000753 [Term] id: EFO:1000752 name: photosensitivity disease def: "Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy." [MESH:D010787] def: "Photosensitivity refers to various symptoms, diseases and conditions caused or aggravated by exposure to sunlight." [] synonym: "disorder, photosensitivity" EXACT [MESH:D010787] synonym: "disorders, photosensitivity" EXACT [MESH:D010787] synonym: "photodermatitides" EXACT [MESH:D010787] synonym: "photodermatitis" EXACT [MESH:D010787] synonym: "photodermatosis" EXACT [] synonym: "photosensitivity disease" EXACT [] {comment="preferred label from MONDO"} synonym: "photosensitivity disorder" EXACT [MESH:D010787] synonym: "photosensitization" EXACT [MESH:D010787] xref: DOID:3159 {source="MONDO:equivalentTo", source="EFO:1000752"} xref: MedDRA:10034966 xref: MedDRA:10034975 xref: MESH:D010787 {source="DOID:3159", source="MONDO:equivalentTo"} xref: MONDO:0006597 xref: SCTID:22649008 {source="DOID:3159", source="MONDO:equivalentTo"} xref: UMLS:C0031762 {source="DOID:3159", source="MONDO:equivalentTo"} is_a: MONDO:0005271 ! allergic disease is_a: MONDO:0043771 ! radiodermatitis property_value: definition:citation http://www.dermnetnz.org/reactions/photosensitivity.html xsd:string property_value: exactMatch DOID:3159 property_value: exactMatch http://identifiers.org/mesh/D010787 property_value: exactMatch http://identifiers.org/snomedct/22649008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031762 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000753 name: phototoxic dermatitis def: "a form of allergic contact dermatitis in which the allergen must be activated by light to sensitize the allergic response, and to cause a rash or other systemic effects on subsequent exposure. The second and subsequent exposures produce photoallergic skin conditions which are often eczematous. In rare cases the victims die." [] def: "Dermatitis caused or precipitated by exposure to ultraviolet sunlight, or by mediating phototoxic or photoallergic material in response to ultraviolet sunlight." [NCIT:C4816] synonym: "photoallergic dermatitis" EXACT [] synonym: "photoallergic eczema" EXACT [] synonym: "photoallergy" EXACT [] synonym: "Photodermatitis" EXACT [NCIT:C4816] synonym: "Photosensitisation reaction" EXACT [DOID:4407] synonym: "photosensitisation reaction" EXACT [] synonym: "photosensitive dermatitis" EXACT [DOID:4407, NCIT:C4816] synonym: "photosensitiveness" EXACT [DOID:4407] synonym: "photosensitivity reaction" EXACT [NCIT:C4816] synonym: "phototoxic dermatitis" EXACT [] {comment="preferred label from MONDO"} synonym: "sun poisoning" EXACT [] xref: DOID:3818 xref: DOID:4407 {source="MONDO:equivalentTo", source="EFO:1000753"} xref: MedDRA:10034972 xref: MESH:D017484 {source="MONDO:equivalentTo", source="DOID:4407"} xref: MONDO:0006598 xref: NCIT:C4816 {source="MONDO:equivalentTo", source="DOID:4407"} xref: SCTID:53597009 {source="MONDO:equivalentTo", source="DOID:4407"} xref: UMLS:C0162830 {source="NCIT:C4816", source="MONDO:equivalentTo", source="DOID:4407"} xref: Wikipedia:Photodermatitis {source="EFO:1000753"} is_a: EFO:1000718 {source="DOID:4407", source="EFO:1000753", source="MESH:D017484", source="MONDO:Entailed", source="MONDO:Redundant"} ! irritant dermatitis is_a: EFO:1000752 {source="DOID:4407", source="EFO:1000753", source="MESH:D017484"} ! photosensitivity disease property_value: exactMatch DOID:4407 property_value: exactMatch http://identifiers.org/mesh/D017484 property_value: exactMatch http://identifiers.org/snomedct/53597009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162830 property_value: exactMatch NCIT:C4816 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000754 name: physical urticaria def: "A distinct subgroup of the urticaria that are induced by an exogenous physical stimulus rather than occurring spontaneously." [Wikipedia:Physical_urticaria] def: "An urticaria induced by external physical influences." [] synonym: "physical urticaria" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0060220 {source="MONDO:equivalentTo", source="EFO:1000754"} xref: MedDRA:10034990 xref: MONDO:0006599 xref: SCTID:402601007 {source="MONDO:equivalentTo"} is_a: EFO:0005531 {source="DOID:0060220", source="EFO:1000754"} ! urticaria property_value: exactMatch DOID:0060220 property_value: exactMatch http://identifiers.org/snomedct/402601007 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000755 name: pigmentation disease def: "a group of diseases affecting the color of skin" [] synonym: "skin pigmentation disorder" EXACT [] xref: DOID:10123 xref: ICD10:L81 is_a: EFO:0000701 ! skin disease property_value: definition:citation https://www.nlm.nih.gov/medlineplus/skinpigmentationdisorders.html xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000756 name: pityriasis rosea def: "A mild, self-limited skin disorder that is most commonly seen in children and young adults. It is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs. There may also be itching, especially when overheated." [NCIT:P378] def: "a skin rash. It is benign but may inflict substantial discomfort in certain cases.Classically, it begins with a single \"herald patch\" lesion, followed in 1 or 2 weeks by a generalized body rash lasting up to 12 weeks, however usually around 6 - 8." [] synonym: "Pityriasis circinata" EXACT [DOID:8892] synonym: "Pityriasis rosea" EXACT [DOID:8892, NCIT:C26855] synonym: "pityriasis rosea" EXACT [] {comment="preferred label from MONDO"} synonym: "pityriasis rosea Gibert" EXACT [] xref: DOID:8892 {source="MONDO:equivalentTo", source="EFO:1000756"} xref: ICD10:L42 xref: ICD10CM:L42 {source="MONDO:equivalentTo", source="DOID:8892"} xref: ICD9:696.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8892"} xref: MedDRA:10035114 xref: MESH:D017515 {source="MONDO:equivalentTo", source="DOID:8892"} xref: MONDO:0006601 xref: NCIT:C26855 {source="MONDO:equivalentTo", source="DOID:8892"} xref: SCTID:77252004 {source="MONDO:equivalentTo", source="DOID:8892"} xref: UMLS:C0032026 {source="MONDO:equivalentTo", source="NCIT:C26855", source="DOID:8892"} xref: Wikipedia:Pityriasis_rosea {source="EFO:1000756"} is_a: EFO:1000697 {source="EFO:1000756", source="MONDO:cjm"} ! exanthem is_a: MONDO:0002406 {source="NCIT:C26855"} ! dermatitis property_value: exactMatch DOID:8892 property_value: exactMatch http://identifiers.org/mesh/D017515 property_value: exactMatch http://identifiers.org/snomedct/77252004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032026 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L42 property_value: exactMatch NCIT:C26855 property_value: excluded_subClassOf MONDO:0005083 {source="DOID:8892", source="EFO:1000756"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000757 name: porokeratosis def: "A clonal proliferation of abnormal keratinocytes characterized by the development of localized or multiple atrophic skin patches surrounded by an annular keratotic ring called cornoid lamella." [NCIT:P378] def: "a specific disorder of keratinization that is characterized histologically by the presence of a cornoid lamella, a thin column of closely stacked, parakeratotic cells extending through the stratum corneum with a thin or absent granular layer." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79358"} synonym: "Disseminated superficial actinic porokeratosis" EXACT [] synonym: "disseminated superficial actinic porokeratosis" EXACT [] synonym: "DSAP" EXACT [] synonym: "porokeratosis" EXACT [] {comment="preferred label from MONDO"} synonym: "porokeratosis" EXACT [MONDO:ambiguous] synonym: "porokeratosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:3805 {source="MONDO:equivalentTo", source="EFO:1000757"} xref: HP:0200044 {source="MONDO:otherHierarchy"} xref: ICD9:692.75 {source="DOID:3805"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10036175 {source="Orphanet:79358", source="Orphanet:79358/e"} xref: MESH:D017499 {source="https://orcid.org/0000-0003-1967-3726", source="Orphanet:79358", source="MONDO:equivalentTo", source="Orphanet:79358/e", source="DOID:3805"} xref: MONDO:0006602 xref: NCIT:C85019 {source="MONDO:equivalentTo", source="DOID:3805"} xref: OMIMPS:175800 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:79358 {source="MONDO:equivalentTo"} xref: SCTID:400080004 {source="MONDO:equivalentTo", source="DOID:3805"} xref: UMLS:C0162839 {source="NCIT:C85019", source="Orphanet:79358", source="MONDO:equivalentTo", source="Orphanet:79358/e", source="DOID:3805"} xref: Wikipedia:Porokeratosis {source="EFO:1000757"} is_a: EFO:1000720 {source="DOID:3805", source="EFO:1000757"} ! keratosis is_a: MONDO:0019268 {source="Orphanet:79358"} ! epidermal disease is_a: MONDO:0100118 ! hereditary skin disorder property_value: closeMatch http://identifiers.org/meddra/10036175 property_value: exactMatch DOID:3805 property_value: exactMatch http://identifiers.org/mesh/D017499 property_value: exactMatch http://identifiers.org/snomedct/400080004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162839 property_value: exactMatch https://omim.org/phenotypicSeries/PS175800 property_value: exactMatch NCIT:C85019 property_value: exactMatch Orphanet:79358 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000589 "porokeratosis (disease)" xsd:string [Term] id: EFO:1000758 name: punctate palmoplantar keratoderma type III def: "a rare condition in which there are small firm warty or pearly papules on the sides of the hands and feet. They were first described by Costa in 1953, hence are sometimes referred to as Costa’s acrokeratoelastoidosis. Acrokeratoelastoidosis is considered a form of punctate palmoplantar keratoderma." [] def: "Acrokeratoelastoidosis of Costa is a rare dermatosis characterized by small, firm papules or plaques (resembling warts) on the sides of the hands and feet. These stationary and asymptomatic lesions appear generally at puberty, or sometimes later" [Orphanet:38] comment: Unclear as to whether this is inherited or acquired see https://github.com/Orphanet/ORDO/issues/3 subset: ordo_disease {source="Orphanet:38"} synonym: "acrokeratoelastoidosis" RELATED [OMIM:101850] synonym: "acrokeratoelastoidosis of Costa" EXACT [DOID:0060362] synonym: "aganglionosis, total colonic" RELATED [GARD:0000133] synonym: "ake" EXACT [Orphanet:38] synonym: "collagenous plaques of hand and feet" RELATED [GARD:0000125] synonym: "collagenous plaques of hands and feet" RELATED [OMIM:101850] synonym: "Costa's acrokeratoelastoidosis" EXACT [] synonym: "keratoderma, palmoplantar, punctate type 3" EXACT [OMIM:101850, OMIM:genemap2] synonym: "near-total intestinal aganglionosis" RELATED [GARD:0000133] synonym: "NTIA" RELATED ABBREVIATION [GARD:0000133] synonym: "palmoplantar keratoderma, punctate type 3" RELATED [GARD:0000125] synonym: "palmoplantar keratoderma, punctate type III" RELATED [MONDO:Lexical, OMIM:101850] synonym: "PPKP3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:101850, Orphanet:38] synonym: "punctate palmoplantar hyperkeratosis type 3" EXACT [DOID:0060362, Orphanet:38] synonym: "punctate palmoplantar keratoderma type 3" EXACT [DOID:0060362, Orphanet:38] synonym: "punctate palmoplantar keratoderma type III" EXACT [] {comment="preferred label from MONDO"} synonym: "rare form of Hirschsprung's disease" RELATED [GARD:0000133] synonym: "TIA" RELATED ABBREVIATION [GARD:0000133] synonym: "|punctate palmoplantar keratoderma type 3" EXACT [] xref: DOID:0060362 {source="MONDO:equivalentTo", source="EFO:1000758"} xref: MESH:C535653 {source="DOID:0060362", source="MONDO:equivalentTo", source="Orphanet:38", source="Orphanet:38/e"} xref: MONDO:0007047 xref: OMIM:101850 {source="DOID:0060362", source="MONDO:equivalentTo", source="Orphanet:38", source="Orphanet:38/e"} xref: Orphanet:38 {source="DOID:0060362", source="MONDO:equivalentTo", source="OMIM:101850"} xref: UMLS:C0545044 {source="DOID:0060362", source="MONDO:equivalentTo", source="Orphanet:38", source="MONDO:ncbi_mim2gene_medline", source="OMIM:101850", source="Orphanet:38/e"} is_a: MONDO:0017676 {source="Orphanet:38"} ! marginal papular palmoplantar keratoderma is_a: MONDO:0019271 {source="Orphanet:38"} ! acrokeratoderma is_a: MONDO:0019292 {source="MONDO:cjm", source="Orphanet:38/inferred", source="https://github.com/Orphanet/ORDO/issues/3"} ! dermis elastic tissue disorder is_a: Orphanet:183426 ! Genetic epidermal disorder property_value: definition:citation http://www.dermnetnz.org/scaly/acrokeratoelastoidosis.html xsd:string property_value: exactMatch DOID:0060362 property_value: exactMatch http://identifiers.org/mesh/C535653 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0545044 property_value: exactMatch https://omim.org/entry/101850 property_value: exactMatch Orphanet:38 property_value: excluded_subClassOf MONDO:0016436 {source="Orphanet:38", source="https://github.com/Orphanet/ORDO/issues/3"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: EFO:1000759 name: reactive cutaneous fibrous lesion def: "A benign, epidermal skin lesion characterized by overexpression of collagen during wound healing." [NCIT:P378] synonym: "reactive cutaneous fibrous lesion" EXACT [] {comment="preferred label from MONDO"} xref: DOID:2053 {source="MONDO:equivalentTo", source="EFO:1000759"} xref: MONDO:0006603 xref: NCIT:C27549 {source="MONDO:equivalentTo", source="DOID:2053"} xref: UMLS:C1335666 {source="MONDO:equivalentTo", source="NCIT:C27549", source="DOID:2053"} is_a: EFO:0000701 {source="DOID:2053", source="EFO:1000759", source="NCIT:C27549/inferred"} ! skin disease property_value: exactMatch DOID:2053 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335666 property_value: exactMatch NCIT:C27549 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000760 name: rosacea def: "A chronic erythematous skin disorder that affects the face. It is characterized by the development of redness in the cheeks, nose, and/or forehead and telangiectasia. Sometimes, the erythematous changes may involve the eyelids." [NCIT:P378] def: "a chronic skin condition characterized by facial redness, small and superficial dilated blood vessels on facial skin, papules, pustules, and swelling." [] synonym: "acne rosacea" EXACT [NCIT:C97136] synonym: "Acne roscea" EXACT [] synonym: "acne roscea" EXACT [DOID:8881] synonym: "Acne, erythematosa" EXACT [] synonym: "acne, erythematosa" EXACT [DOID:8881] synonym: "rosacea" EXACT [] {comment="preferred label from MONDO"} xref: DOID:8881 {source="EFO:1000760", source="MONDO:equivalentTo"} xref: ICD10:L71 xref: ICD10CM:L71 {source="MONDO:equivalentTo", source="DOID:8881"} xref: ICD9:695.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8881"} xref: MedDRA:10039218 xref: MESH:D012393 {source="MONDO:equivalentTo", source="DOID:8881"} xref: MONDO:0006604 xref: NCIT:C97136 {source="MONDO:equivalentTo", source="DOID:8881"} xref: SCTID:398909004 {source="MONDO:equivalentTo", source="DOID:8881"} xref: UMLS:C0035854 {source="MONDO:equivalentTo", source="DOID:8881", source="NCIT:C97136"} xref: Wikipedia:Rosacea {source="EFO:1000760"} is_a: EFO:0000701 {source="DOID:8881", source="EFO:1000760", source="MESH:D012393", source="NCIT:C97136/inferred"} ! skin disease property_value: exactMatch DOID:8881 property_value: exactMatch http://identifiers.org/mesh/D012393 property_value: exactMatch http://identifiers.org/snomedct/398909004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035854 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L71 property_value: exactMatch NCIT:C97136 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000761 name: scalp dermatosis def: "Dermotosis of scalp" [EFO:1000761] def: "dermotosis of scalp" [] synonym: "Dermatosis of scalp" EXACT [] synonym: "dermatosis of scalp" EXACT [DOID:3136] synonym: "scalp dermatosis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:3136 {source="MONDO:equivalentTo", source="EFO:1000761"} xref: MESH:D012536 {source="DOID:3136", source="MONDO:equivalentTo"} xref: MONDO:0006605 xref: SCTID:402694007 {source="DOID:3136", source="MONDO:equivalentTo"} xref: UMLS:C0036271 {source="DOID:3136", source="MONDO:equivalentTo"} is_a: EFO:0000701 {source="DOID:3136", source="EFO:1000761", source="MESH:D012536"} ! skin disease property_value: exactMatch DOID:3136 property_value: exactMatch http://identifiers.org/mesh/D012536 property_value: exactMatch http://identifiers.org/snomedct/402694007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036271 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000762 name: scleredema adultorum def: "A usually benign and self-limited skin disorder of unknown etiology, characterized by induration of the skin. It may be associated with infection, diabetes mellitus, and hematologic malignancies. Morphologically, there is deposition of mucin in the dermis." [NCIT:C85057] def: "symmetrical hardening and thickening of the dermal or middle layer of the skin with mucin deposits between collagen bundles, occurs in diabetics, particularly adult men, and is very persistent. The skin of the neck and upper back slowly thickens over months or years." [] subset: ordo_disease {source="Orphanet:352763"} synonym: "Buschke scleredema" EXACT [MESH:D012592, Orphanet:352763] synonym: "Buschke scleredema adultorum" RELATED [MESH:D012592] synonym: "Buschke scleredema Diabeticorum" RELATED [MESH:D012592] synonym: "Buschke's scleredema" EXACT [DOID:3140, MESH:D012592] synonym: "Buschkes scleredema" EXACT [MESH:D012592] synonym: "Diabeticorum, scleredema" EXACT [MESH:D012592] synonym: "Diabeticorums, scleredema" EXACT [MESH:D012592] synonym: "scleredema" EXACT [MESH:D012592] synonym: "scleredema adultorum" EXACT [] {comment="preferred label from MONDO"} synonym: "scleredema adultorum" EXACT [NCIT:C85057] synonym: "Scleredema adultorum of Buschke" EXACT [] synonym: "scleredema adultorum of Buschke" EXACT [MESH:D012592] synonym: "scleredema Diabeticorum" EXACT [MESH:D012592] synonym: "scleredema diabeticorum" EXACT [] synonym: "scleredema Diabeticorum of Buschke" EXACT [MESH:D012592] synonym: "scleredema Diabeticorums" EXACT [MESH:D012592] synonym: "scleredema, Buschke's" EXACT [MESH:D012592] synonym: "scleredemas" EXACT [MESH:D012592] xref: DOID:3140 {source="EFO:1000762", source="MONDO:equivalentTo"} xref: MESH:D012592 {source="MONDO:equivalentTo", source="DOID:3140"} xref: MONDO:0006606 xref: NCIT:C85057 {source="MONDO:equivalentTo", source="DOID:3140"} xref: Orphanet:352763 {source="MONDO:equivalentTo"} xref: SCTID:95323007 {source="MONDO:equivalentTo", source="DOID:3140"} xref: UMLS:C0036413 {source="MONDO:equivalentTo", source="NCIT:C85057", source="DOID:3140"} is_a: MONDO:0002523 {source="DOID:3140", source="MESH:D012592"} ! cutaneous mucinosis property_value: definition:citation http://www.dermnetnz.org/immune/scleredema.html xsd:string property_value: exactMatch DOID:3140 property_value: exactMatch http://identifiers.org/mesh/D012592 property_value: exactMatch http://identifiers.org/snomedct/95323007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036413 property_value: exactMatch NCIT:C85057 property_value: exactMatch Orphanet:352763 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3847 xsd:anyURI [Term] id: EFO:1000763 name: sebaceous gland disease def: "A disease involving the sebaceous gland." [https://orcid.org/0000-0002-6601-2165] def: "A skin disease that is located_in the sebaceous gland." [] synonym: "disease of sebaceous gland" EXACT [MONDO:patterns/location_top] synonym: "disease of sebaceous glands" RELATED [] synonym: "disease or disorder of sebaceous gland" EXACT [] synonym: "disorder of sebaceous gland" EXACT [MONDO:patterns/location_top] synonym: "sebaceous gland disease" EXACT [MONDO:patterns/location] synonym: "sebaceous gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "sebaceous gland disorder" EXACT [] {comment="preferred label from MONDO"} xref: DOID:9098 {source="MONDO:equivalentTo", source="EFO:1000763"} xref: ICD9:706.1 {source="DOID:9098"} xref: MESH:D012625 {source="MONDO:equivalentTo"} xref: MONDO:0006607 xref: SCTID:3441005 {source="MONDO:equivalentTo"} xref: UMLS:C0036502 {source="MONDO:equivalentTo"} is_a: EFO:0000701 {source="DOID:9098", source="EFO:1000763", source="MESH:D012625"} ! skin disease is_a: MONDO:0002917 ! disorder of pilosebaceous unit property_value: exactMatch DOID:9098 property_value: exactMatch http://identifiers.org/mesh/D012625 property_value: exactMatch http://identifiers.org/snomedct/3441005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036502 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000764 name: seborrheic dermatitis def: "A chronic, inflammatory skin disorder that affects the scalp, central face and skin folds; it is characterized by scaling and itching." [NCIT:C111888] def: "A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss." [] synonym: "cradle Cap" EXACT [NCIT:C111888] synonym: "seborrhea" EXACT [DOID:8741, NCIT:C111888] synonym: "seborrheic dermatitis" EXACT [] {comment="preferred label from MONDO"} synonym: "seborrheic dermatitis" EXACT [MONDO:ambiguous, NCIT:C111888] synonym: "seborrheic dermatitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "seborrheic eczema" EXACT [NCIT:C111888] synonym: "seborrhoea" EXACT [] synonym: "Seborrhoeic dermatitis" EXACT [DOID:8741] synonym: "Seborrhoeic eczema" EXACT [DOID:8741] synonym: "seborrhoeic eczema" EXACT [] synonym: "skin seborrheic" EXACT [DOID:8741, MTH:NOCODE] xref: DOID:8741 {source="MONDO:equivalentTo", source="EFO:1000764"} xref: HP:0001051 {source="MONDO:otherHierarchy"} xref: ICD10:L21 xref: ICD9:690.1 {source="DOID:8741"} xref: ICD9:690.10 {source="DOID:8741"} xref: ICD9:706.3 {source="DOID:8741"} xref: MedDRA:10039788 xref: MedDRA:10039789 xref: MESH:D012628 {source="MONDO:equivalentTo", source="DOID:8741"} xref: MONDO:0006608 xref: NCIT:C111888 {source="MONDO:equivalentTo", source="DOID:8741"} xref: UMLS:C0036508 {source="MONDO:equivalentTo", source="DOID:8741", source="NCIT:C111888"} is_a: MONDO:0002406 {source="DOID:8741", source="MESH:D012628", source="NCIT:C111888"} ! dermatitis property_value: exactMatch DOID:8741 property_value: exactMatch http://identifiers.org/mesh/D012628 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036508 property_value: exactMatch NCIT:C111888 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000589 "seborrheic dermatitis (disease)" xsd:string [Term] id: EFO:1000765 name: seborrheic infantile dermatitis def: "A seborrheic dermatitis that involves fungal infection of the scalp of recently born babies caused by Malassezia furfur. It is occasionally linked to immune disorders. The symptoms include thick, crusty, yellow or brown scales over the child's scalp." [] def: "Excessive shedding of dry scaly material from the scalp in humans." [MESH:D063807] synonym: "complement 5 dysfunction" EXACT [DOID:8941] synonym: "cradle cap" EXACT [DOID:8941] synonym: "generalised seborrheic dermatitis of infants" EXACT OMO:0003005 [] synonym: "generalized seborrheic dermatitis of infants" EXACT [DOID:8941] synonym: "infantile seborrheic dermatitis" EXACT [DOID:8941] synonym: "infantile seborrhoeic dermatitis" EXACT [DOID:8941] synonym: "pityriasis capitis" EXACT [] synonym: "pityriasis capitis" RELATED [DOID:8941] synonym: "scalp seborrheic dermatitis (disease)" EXACT [MONDO:patterns/location] synonym: "seborrhea capitis" EXACT [DOID:8941] synonym: "seborrhea sicca" EXACT [DOID:8941] synonym: "seborrheic dermatitis (disease) of scalp" EXACT [] synonym: "seborrheic dermatitis and capitis" EXACT [] synonym: "seborrheic dermatitis of scalp" EXACT [] synonym: "seborrheic infantile dermatitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Seborrhoea capitis" EXACT [DOID:8941] synonym: "seborrhoea capitis" EXACT [] synonym: "Seborrhoeic dermatitis of scalp" EXACT [DOID:8941] synonym: "Seborrhoeic eczema of scalp" EXACT [DOID:8941] synonym: "seborroeic eczema of scalp" EXACT [] xref: DOID:8941 {source="MONDO:equivalentTo", source="EFO:1000765"} xref: ICD9:690.11 {source="DOID:8941"} xref: MedDRA:10039790 xref: MedDRA:10057062 xref: MONDO:0006609 xref: SCTID:400201008 {source="DOID:8941", source="MONDO:relatedTo"} is_a: EFO:1000764 {source="DOID:8941", source="EFO:1000765", source="MONDO:Redundant"} ! seborrheic dermatitis property_value: exactMatch DOID:8941 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000766 name: skin atrophy def: "The degeneration and thinning of the epidermis and dermis. It is usually a manifestation of aging." [NCIT:P378] def: "The structural changes and the signs and symptoms of chronologically aged skinand those of corticosteroid induced chronicatrophyof theskinare partially very similar.Thinningof epidermis and laxity as well as dryness, purpura and echymoses occur in both conditions." [] synonym: "atrophic condition of skin" EXACT [DOID:2733] synonym: "atrophic skin" EXACT [NCIT:C35163] synonym: "Atrophoderma" EXACT [] synonym: "atrophoderma" EXACT [DOID:2733] synonym: "Atrophoderma, atrophic condition of skin" EXACT [] synonym: "Atrophy - skin" EXACT [] synonym: "atrophy - skin" EXACT [DOID:2733] synonym: "atrophy of skin" EXACT [NCIT:C35163] synonym: "skin atrophy" EXACT [] {comment="preferred label from MONDO"} synonym: "steroid atrophy" EXACT [] xref: DOID:2733 {source="MONDO:equivalentTo", source="EFO:1000766"} xref: ICD10:L90 xref: ICD9:701.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10040799 xref: MONDO:0006610 xref: NCIT:C35163 {source="MONDO:equivalentTo", source="DOID:2733"} xref: SCTID:400190005 {source="MONDO:equivalentTo", source="DOID:2733"} xref: UMLS:C0151514 {source="NCIT:C35163", source="MONDO:equivalentTo", source="DOID:2733"} xref: Wikipedia:Steroid_atrophy {source="EFO:1000766"} is_a: EFO:0000701 {source="DOID:2733", source="EFO:1000766", source="NCIT:C35163/inferred"} ! skin disease property_value: exactMatch DOID:2733 property_value: exactMatch http://identifiers.org/snomedct/400190005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151514 property_value: exactMatch NCIT:C35163 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000767 name: skin sarcoidosis def: "Formation of non-necrotizing granulomas in the skin. It may be a manifestation of systemic sarcoidosis or may also arise in isolation." [NCIT:P378] def: "Sarcoidosis involves the skin in about 25% of patients. The most common lesions are erythema nodosum, plaques, maculopapular eruptions, subcutaneous nodules, and lupus pernio. Treatment is not required, since the lesions usually resolve spontaneously in two to four weeks. Although it may be disfiguring, cutaneous sarcoidosis rarely causes major problems." [] synonym: "Cutaneous sarcoid" EXACT [] synonym: "cutaneous sarcoid" EXACT [DOID:13402] synonym: "Cutaneous Sarcoidosis" EXACT [] synonym: "cutaneous sarcoidosis" EXACT [DOID:13402, NCIT:C34996] synonym: "sarcoidosis of zone of skin" EXACT [MONDO:design_pattern] synonym: "skin sarcoidosis" EXACT [] {comment="preferred label from MONDO"} synonym: "zone of skin sarcoidosis" EXACT [MONDO:patterns/location] xref: DOID:13402 {source="MONDO:equivalentTo", source="EFO:1000767"} xref: ICD10CM:D86.3 {source="MONDO:equivalentTo", source="DOID:13402"} xref: MONDO:0006611 xref: NCIT:C34996 {source="MONDO:equivalentTo", source="DOID:13402"} xref: SCTID:55941000 {source="MONDO:equivalentTo", source="DOID:13402"} xref: UMLS:C0036203 {source="MONDO:equivalentTo", source="NCIT:C34996", source="DOID:13402"} xref: Wikipedia:Cutaneous_manifestations_of_sarcoidosis {source="EFO:1000767"} is_a: EFO:0000701 ! skin disease is_a: MONDO:0019338 {source="DOID:13402", source="MONDO:Redundant", source="NCIT:C34996"} ! sarcoidosis property_value: exactMatch DOID:13402 property_value: exactMatch http://identifiers.org/snomedct/55941000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036203 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D86.3 property_value: exactMatch NCIT:C34996 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000768 name: spongiotic dermatitis def: "A generic term for a broadly defined histopathologic pattern characterised by “eczema”, often associated with an increase in eosinophils occurring in a background of contact dermatitis, atopy and drug reactions." [] xref: DOID:4406 xref: MedDRA:10082692 is_a: HP:0000999 ! Pyoderma property_value: definition:citation "spongiotic dermatitis. (n.d.) Segen's Medical Dictionary. (2011). Retrieved February 2 2016 from http://medical-dictionary.thefreedictionary.com/spongiotic+dermatitis" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000769 name: steroid lipomatosis def: "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the face, upper middle back, and sternal region. It is associated with adrenocortical steroid therapy or an increase in endogenous adrenocortical hormone." [NCIT:C27487] def: "steroid-induced lipomatosis" [] synonym: "steroid lipomatosis" EXACT [] {comment="preferred label from MONDO"} synonym: "steroid lipomatosis" EXACT [NCIT:C27487] xref: DOID:3925 {source="MONDO:equivalentTo", source="EFO:1000769"} xref: MONDO:0006612 xref: NCIT:C27487 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3925"} xref: UMLS:C1336506 {source="NCIT:C27487", source="MONDO:equivalentTo", source="DOID:3925"} is_a: EFO:1000728 {source="DOID:3925", source="EFO:1000769", source="NCIT:C27487"} ! lipomatosis property_value: exactMatch DOID:3925 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336506 property_value: exactMatch NCIT:C27487 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000770 name: stromal corneal pigmentation def: "Stromal pigmentation such as that in ochronosis results from chronic irritation. The melanin is in the superficial stroma and the basal layer of the corneal epithelium." [EFO:1000770] def: "stromal pigmentation such as that in ochronosis results from chronic irritation. The melanin is in the superficial stroma and the basal layer of the corneal epithelium." [] synonym: "stromal corneal pigmentation" EXACT [] {comment="preferred label from MONDO"} synonym: "stromal corneal pigmentations" EXACT [DOID:12311, ICD9CM:371.12] xref: DOID:12311 {source="EFO:1000770", source="MONDO:equivalentTo"} xref: ICD9:371.12 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12311"} xref: MONDO:0006613 xref: SCTID:55031000 {source="MONDO:equivalentTo", source="DOID:12311"} xref: UMLS:C0155105 {source="MONDO:equivalentTo", source="DOID:12311"} is_a: EFO:1000755 ! pigmentation disease is_a: MONDO:0001308 {source="DOID:12311"} ! corneal deposit property_value: definition:citation http://www.cybersight.org/bins/volume_page.asp?cid=1-2897-3505-3510 xsd:string property_value: exactMatch DOID:12311 property_value: exactMatch http://identifiers.org/snomedct/55031000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155105 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000771 name: subcorneal pustular dermatosis def: "A rare, benign, chronic disease characterized by sterile pustular eruption, typically involving the flexural sites of the trunk and proximal extremities." [Orphanet:48377] def: "a rare, benign, chronic relapsing sterile pustular eruption typically involving the flexural sites of the trunk and proximal extremities. It most commonly affects woman aged 40 years or older." [] subset: ordo_disease {source="Orphanet:48377"} synonym: "pustulosis subcornealis" EXACT [Orphanet:48377] synonym: "Sneddon-Wilkinson disease" EXACT [Orphanet:48377] synonym: "Sneddon-Wilkinson disease or syndrome" EXACT [DOID:8508] synonym: "Sneddon-Wilkinson syndrome" EXACT [] synonym: "subcorneal pustular dermatitis" EXACT [Orphanet:48377] synonym: "subcorneal pustular dermatosis" EXACT [] {comment="preferred label from MONDO"} synonym: "subcorneal pustular dermatosis" EXACT [DOID:8508, ICD9CM:694.1] xref: DOID:8508 {source="EFO:1000771", source="MONDO:equivalentTo"} xref: ICD9:694.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8508"} xref: MedDRA:10042342 {source="Orphanet:48377/e", source="Orphanet:48377"} xref: MESH:D012872 {source="MONDO:relatedTo", source="DOID:8508"} xref: MONDO:0006614 xref: Orphanet:48377 {source="MONDO:equivalentTo"} xref: SCTID:25147002 {source="MONDO:equivalentTo", source="DOID:8508"} xref: UMLS:C0600336 {source="Orphanet:48377/e", source="MONDO:equivalentTo", source="DOID:8508", source="Orphanet:48377"} is_a: EFO:0008598 {source="DOID:8508", source="EFO:1000771"} ! autoimmune bullous skin disease property_value: closeMatch http://identifiers.org/meddra/10042342 property_value: definition:citation http://emedicine.medscape.com/article/1124252-overview xsd:string property_value: exactMatch DOID:8508 property_value: exactMatch http://identifiers.org/snomedct/25147002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0600336 property_value: exactMatch Orphanet:48377 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000772 name: sweat gland disease def: "A disease involving the sweat gland." [https://orcid.org/0000-0002-6601-2165] def: "disorders or sweat glands" [] synonym: "disease of sweat gland" EXACT [MONDO:patterns/location_top] synonym: "disease of sweat glands" RELATED [] synonym: "disease or disorder of sweat gland" EXACT [] synonym: "disorder of sweat gland" EXACT [MONDO:patterns/location_top] synonym: "disorder of sweat glands" RELATED [] synonym: "sweat gland disease" EXACT [MONDO:patterns/location] synonym: "sweat gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "sweat gland disorder" EXACT [] {comment="preferred label from MONDO"} xref: DOID:1383 {source="MONDO:equivalentTo", source="EFO:1000772"} xref: ICD10:L74 xref: ICD9:705 {source="DOID:1383"} xref: ICD9:705.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:705.9 {source="DOID:1383", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D013543 {source="DOID:1383", source="MONDO:equivalentTo"} xref: MONDO:0006615 xref: SCTID:88232005 {source="DOID:1383", source="MONDO:equivalentTo"} xref: UMLS:C0038986 {source="DOID:1383", source="MONDO:equivalentTo"} is_a: EFO:0000701 {source="DOID:1383", source="EFO:1000772", source="MESH:D013543"} ! skin disease property_value: exactMatch DOID:1383 property_value: exactMatch http://identifiers.org/mesh/D013543 property_value: exactMatch http://identifiers.org/snomedct/88232005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038986 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000773 name: toxicodendron dermatitis def: "an allergic contact dermatitis (allergic phytodermatitis) that occurs from exposure to members of the plant genus Toxicodendron." [] def: "An allergic contact dermatitis caused by exposure to plants of the genus Toxicodendron (formerly Rhus). These include poison ivy, poison oak, and poison sumac, all plants that contain the substance urushiol, a potent skin sensitizing agent. (From Dorland, 27th ed)" [MESH:D011040] synonym: "contact dermatitis due to Genus Toxicodendron" EXACT [] synonym: "contact dermatitis due to genus Toxicodendron" EXACT [DOID:3819] synonym: "Rhus dermatitis" EXACT [DOID:3819] synonym: "toxicodendron dermatitis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:3819 {source="EFO:1000773", source="MONDO:equivalentTo"} xref: ICD9:692.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D011040 {source="DOID:3819", source="MONDO:equivalentTo"} xref: MONDO:0006616 xref: SCTID:410049000 {source="DOID:3819", source="MONDO:equivalentTo"} xref: UMLS:C0032342 {source="DOID:3819", source="MONDO:equivalentTo"} is_a: EFO:1000668 {source="DOID:3819", source="EFO:1000773", source="MESH:D011040"} ! allergic contact dermatitis property_value: definition:citation http://emedicine.medscape.com/article/817671-overview xsd:string property_value: exactMatch DOID:3819 property_value: exactMatch http://identifiers.org/mesh/D011040 property_value: exactMatch http://identifiers.org/snomedct/410049000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032342 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000774 name: vesiculobullous skin disease def: "Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)" [MESH:D012872] def: "Skin diseases characterized by local or general distributions of vesicles and bullae (i.e. blisters). Both vesicles and bullae are fluid-filled lesions, distinguished by size (vesicles being less than 5–10 mm and bullae being larger than 5–10 mm). Vesiculobullous diseases are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. In the case of vesiculobullous diseases which are also immune disorders, the term immunobullous is sometimes used. (From Scientific American Medicine, 1990, and Wikipedia)" [] synonym: "bullous dermatoses" RELATED [MESH:D012872] synonym: "bullous skin disease" RELATED [MESH:D012872] synonym: "bullous skin diseases" RELATED [MESH:D012872] synonym: "dermatoses, bullous" RELATED [MESH:D012872] synonym: "dermatoses, subcorneal pustular" RELATED [MESH:D012872] synonym: "dermatoses, vesiculobullous" RELATED [MESH:D012872] synonym: "dermatosis, subcorneal pustular" RELATED [MESH:D012872] synonym: "pustular dermatoses, subcorneal" RELATED [MESH:D012872] synonym: "pustular dermatosis, subcorneal" RELATED [MESH:D012872] synonym: "skin disease, bullous" RELATED [MESH:D012872] synonym: "skin disease, vesicular" RELATED [MESH:D012872] synonym: "skin disease, vesiculobullous" RELATED [MESH:D012872] synonym: "skin diseases, bullous" RELATED [MESH:D012872] synonym: "skin diseases, vesicular" NARROW [MESH:D012872] synonym: "Skin Diseases, Vesiculobullous" EXACT [] synonym: "Sneddon Wilkinson disease" NARROW [MESH:D012872] synonym: "Sneddon-Wilkinson disease" NARROW [MESH:D012872] synonym: "subcorneal pustular dermatoses" NARROW [MESH:D012872] synonym: "subcorneal pustular dermatosis" NARROW [MESH:D012872] synonym: "vesicular skin disease" RELATED [MESH:D012872] synonym: "vesicular skin diseases" RELATED [MESH:D012872] synonym: "vesiculobullous dermatoses" RELATED [MESH:D012872] synonym: "vesiculobullous skin disease" EXACT [] {comment="preferred label from MONDO"} synonym: "vesiculobullous skin disease" EXACT [MESH:D012872] synonym: "vesiculobullous skin diseases" RELATED [MESH:D012872] xref: DOID:2731 {source="MONDO:equivalentTo", source="EFO:1000774"} xref: MESH:D012872 {source="MONDO:equivalentTo", source="DOID:2731", source="EFO:1000774"} xref: MeSH:D012872 xref: MONDO:0006617 xref: UMLS:C0037275 {source="MONDO:equivalentTo", source="DOID:2731"} xref: Wikipedia:Vesiculobullous_disease is_a: EFO:0000701 {source="DOID:2731", source="EFO:1000774", source="MESH:D012872", source="MONDO:Redundant"} ! skin disease property_value: exactMatch DOID:2731 property_value: exactMatch http://identifiers.org/mesh/D012872 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037275 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000775 name: vibratory urticaria def: "This very rare form of angioedema develops in reply to contact with vibration. In vibratory angioedema, symptoms develop within two to five minutes after contact with vibration and dissolve after about an hour. Patients with this disorder do not suffer from dermographism or pressure urticaria. Vibratory angioedema is diagnosed by holding a vibrating device such as a laboratory vortex machine against the forearm for four minutes. Speedy swelling of the whole forearm extending into the upper arm is also noted later. The principal treatment is avoidance of vibratory stimulants. Antihistamines have also been proven helpful." [EFO:1000775] def: "This very rare form of angioedema develops in reply to contact with vibration. In vibratory angioedema, symptoms develop within two to five minutes after contact with vibration and dissolve after about an hour. Patients with this disorder do not suffer from dermographism or pressure urticaria. Vibratory angioedema is diagnosed by holding a vibrating device such as a laboratory vortex machine against the forearm for four minutes. Speedy swelling of the whole forearm extending into the upper arm is also noted later. The principal treatment is avoidance of vibratory stimulants. Antihistamines have also been proven helpful.[" [] comment: Editor note: TODO add ECTO synonym: "vibratory urticaria" EXACT [] {comment="preferred label from MONDO"} xref: DOID:1554 {source="MONDO:equivalentTo", source="EFO:1000775"} xref: ICD10CM:L50.4 {source="MONDO:equivalentTo", source="DOID:1554"} xref: ICD9:708.4 {source="MONDO:equivalentTo", source="DOID:1554", source="MONDO:i2s"} xref: MedDRA:10047396 xref: MONDO:0006618 xref: OMIM:125630 xref: SCTID:51247001 {source="MONDO:equivalentTo", source="DOID:1554"} xref: UMLS:C0157743 {source="MONDO:equivalentTo", source="DOID:1554"} xref: Wikipedia:Urticaria#Vibratory_angioedema {source="EFO:1000775"} is_a: EFO:1000754 {source="DOID:1554", source="EFO:1000775"} ! physical urticaria property_value: exactMatch DOID:1554 property_value: exactMatch http://identifiers.org/snomedct/51247001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0157743 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L50.4 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000776 name: viral exanthem def: "A virus-induced exanthem" [EFO:1000776] def: "a virus-induced exanthem" [] synonym: "viral exanthem" EXACT [] {comment="preferred label from MONDO"} xref: DOID:8672 {source="MONDO:equivalentTo", source="EFO:1000776"} xref: ICD9:057.8 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:8672"} xref: ICD9:057.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10047441 xref: MONDO:0006619 xref: SCTID:49882001 {source="MONDO:equivalentTo"} xref: UMLS:C0153062 {source="MONDO:equivalentTo"} is_a: EFO:1000697 {source="DOID:8672", source="EFO:1000776"} ! exanthem property_value: exactMatch DOID:8672 property_value: exactMatch http://identifiers.org/snomedct/49882001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153062 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000777 name: vulva fibroepithelial polyp def: "A polypoid lesion that arises from the vulva and is characterized by the presence of fibrovascular stroma lined by squamous epithelium. There is no evidence of epithelial atypia." [NCIT:P378] def: "Polyp composed of a central core of fibrous tissue containing irregular shaped thin walled vessels and stellate cells. The overlying squamous epithelium may display reactive changes, but without papillomatous architecture or koilocytosis" [] synonym: "fibroepithelial polyp of the vulva" EXACT [NCIT:C6857] synonym: "fibroepithelial polyp of vulva" EXACT [NCIT:C6857] synonym: "mammalian vulva skin tag" EXACT [MONDO:patterns/location] synonym: "skin tag of mammalian vulva" EXACT [MONDO:design_pattern] synonym: "vagina benign tomor, fibroepithelial (stromal) polyp" EXACT [] synonym: "vulva fibroepithelial polyp" EXACT [] {comment="preferred label from MONDO"} synonym: "vulval fibroepithelial polyp" EXACT [DOID:8255, NCIT:C6857] synonym: "vulvar fibroepithelial polyp" EXACT [NCIT:C6857] synonym: "vulvar fibroepithelial stromal polyp" EXACT [NCIT:C6857] xref: DOID:8255 {source="MONDO:equivalentTo", source="EFO:1000777"} xref: MONDO:0006620 xref: NCIT:C6857 {source="MONDO:equivalentTo", source="DOID:8255"} xref: UMLS:C1336978 {source="MONDO:equivalentTo", source="DOID:8255", source="NCIT:C6857"} is_a: EFO:0008622 ! female genital tract polyp is_a: MONDO:0021396 {source="MONDO:Redundant", source="NCIT:C6857"} ! polyp of vulva is_a: MONDO:0060765 {source="NCIT:C6857"} ! fibroepithelial polyp property_value: definition:citation http://www.pathologyoutlines.com/topic/vaginafibroepithelial.html xsd:string property_value: exactMatch DOID:8255 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336978 property_value: exactMatch NCIT:C6857 property_value: excluded_subClassOf MONDO:0004026 {source="DOID:8255"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000778 name: vulvar inverted follicular keratosis def: "Inverted follicular keratosis of the vulvar skin" [] def: "Seborrheic keratosis that arises from follicular structures in the vulva. It is characterized by the presence of prominent squamous eddies." [NCIT:P378] synonym: "inverted follicular keratosis of mammalian vulva" EXACT [MONDO:design_pattern] synonym: "mammalian vulva inverted follicular keratosis" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "vulvar inverted follicular keratosis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:6943 {source="MONDO:equivalentTo", source="EFO:1000778"} xref: MONDO:0006621 xref: NCIT:C40291 {source="DOID:6943", source="MONDO:equivalentTo"} xref: UMLS:C1520084 {source="DOID:6943", source="NCIT:C40291", source="MONDO:equivalentTo"} is_a: EFO:1000717 {source="DOID:6943", source="EFO:1000778", source="MONDO:Redundant", source="NCIT:C40291"} ! inverted follicular keratosis is_a: EFO:1000779 {source="DOID:6943", source="EFO:1000778", source="MONDO:Redundant", source="NCIT:C40291"} ! vulvar seborrheic keratosis property_value: definition:citation http://www.ncbi.nlm.nih.gov/pubmed/11109167 xsd:string property_value: exactMatch DOID:6943 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1520084 property_value: exactMatch NCIT:C40291 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000779 name: vulvar seborrheic keratosis def: "A benign squamous neoplasm that arises from the vulva. It is characterized by the proliferation of the basal cells in the squamous epithelium, acanthosis, hyperkeratosis, and cysts formation." [NCIT:P378] def: "pigmented vulvar lesions categorized with seborrheic keratosis" [] synonym: "mammalian vulva seborrheic keratosis" EXACT [MONDO:patterns/location] synonym: "seborrheic keratosis of mammalian vulva" EXACT [MONDO:design_pattern] synonym: "seborrheic keratosis of the vulva" EXACT [NCIT:C6375] synonym: "Seborrheic Keratosis of Vulva" EXACT [] synonym: "seborrheic keratosis of vulva" EXACT [DOID:6944, NCIT:C6375] synonym: "vulvar seborrheic keratosis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:6944 {source="MONDO:equivalentTo", source="EFO:1000779"} xref: MONDO:0006622 xref: NCIT:C6375 {source="MONDO:equivalentTo", source="DOID:6944"} xref: UMLS:C1336981 {source="NCIT:C6375", source="MONDO:equivalentTo", source="DOID:6944"} is_a: EFO:0002921 ! vulvar carcinoma is_a: EFO:0005584 {source="DOID:6944", source="EFO:1000779", source="MONDO:Redundant", source="NCIT:C6375"} ! seborrheic keratosis is_a: EFO:0009259 ! skin carcinoma is_a: MONDO:0002195 {source="DOID:6944", source="NCIT:C6375"} ! vulvar squamous neoplasm is_a: MONDO:0015950 ! inherited skin tumor property_value: exactMatch DOID:6944 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336981 property_value: exactMatch NCIT:C6375 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000780 name: autoimmune pancreatitis type 1 def: "Autoimmune pancreatitis (AIP) is a unique form of chronic pancreatitis characterized by high serum IgG4 concentration and a variety of complicating extra-pancreatic lesions. In particular, lachrymal/salivary gland lesions tend to manifest in a highly active AIP disease state." [] def: "Type 1 autoimmune pancreatitis is a form of autoimmune pancreatitis seen in elderly males (>60 years) and presenting with abdominal pain, steatorrhea, obstructive jaundice and other organ (bile duct, kidneys and retroperitoneum) involvement. It is thought to be due to an immunoglobulin G4 (IgG4)-associated systemic disease." [Orphanet:280302] subset: ordo_clinical_subtype {source="Orphanet:280302"} synonym: "AIP type 1" EXACT [Orphanet:280302] synonym: "autoimmune pancreatitis type 1" EXACT [] {comment="preferred label from MONDO"} synonym: "autoimmune pancreatitis type 1" EXACT [MONDO:0006623] synonym: "IgG4-related pancreatitis" EXACT [Orphanet:280302] synonym: "lymphoplasmacytic sclerosing pancreatitis" EXACT [Orphanet:280302] xref: MONDO:0017227 xref: Orphanet:280302 {source="MONDO:equivalentTo"} xref: PMID:25985088 {source="EFO:1000780"} xref: SCTID:722872000 {source="MONDO:equivalentTo"} xref: UMLS:C4302243 {source="MONDO:equivalentTo"} xref: UMLS:CN202712 {source="MONDO:equivalentTo"} is_a: EFO:0000342 {source="EFO:1000780"} ! chronic pancreatitis is_a: MONDO:0015175 {source="Orphanet:280302"} ! autoimmune pancreatitis relationship: EFO:0000784 UBERON:0001264 ! has_disease_location pancreas relationship: EFO:0000784 UBERON:0002405 ! has_disease_location immune system property_value: exactMatch http://identifiers.org/snomedct/722872000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4302243 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202712 property_value: exactMatch Orphanet:280302 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1000781 name: overactive bladder def: "Symptom of overactive detrusor muscle of the urinary bladder that contracts with abnormally high frequency and urgency. Overactive bladder is characterized by the frequent feeling of needing to urinate during the day, during the night, or both. Urinary incontinence may or may not be present." [] def: "Symptom of overactive detrusor muscle of the urinary bladder that contracts with abnormally high frequency and urgency. Overactive bladder is characterized by the frequent feeling of needing to urinate during the day, during the night, or both. urinary incontinence may or may not be present." [MESH:D053201] synonym: "Hypertonic bladder" EXACT [] synonym: "OAB" EXACT [] synonym: "overactive bladder" EXACT [MONDO:ambiguous] synonym: "overactive bladder" EXACT [] {comment="preferred label from MONDO"} synonym: "overactive bladder (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Overactive Detrusor" EXACT [] synonym: "Urinary Bladder Overactive" EXACT [] xref: DOID:0070355 {source="MONDO:equivalentTo"} xref: HP:0000012 {source="MONDO:otherHierarchy"} xref: ICD9:596.51 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10020853 {source="EFO:1000781"} xref: MedDRA:10059617 xref: MESH:D053201 {source="EFO:1000781", source="MONDO:equivalentTo"} xref: MeSH:D053201 xref: MONDO:0006624 xref: SCTID:236633002 {source="MONDO:equivalentTo"} is_a: EFO:1000018 {source="EFO:1000781", source="MESH:D053201"} ! bladder disease property_value: closeMatch http://identifiers.org/meddra/10020853 property_value: exactMatch DOID:0070355 property_value: exactMatch http://identifiers.org/mesh/D053201 property_value: exactMatch http://identifiers.org/snomedct/236633002 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000589 "overactive bladder (disease)" xsd:string [Term] id: EFO:1000782 name: altitude sickness def: "A pathological effect of high altitude on humans, occurring when exposure to low partial pressure of oxygen, typically at high altitudes, causes hypoxia (a decrease in the amount of oxygen in the body). It commonly occurs above 2,400 metres (8,000 feet). It presents as a collection of nonspecific symptoms, resembling a case of \"flu, carbon monoxide poisoning, or a hangover\". It is hard to determine who will be affected by altitude sickness, as there are no specific factors that correlate with a susceptibility to altitude sickness. However, most people can ascend to 2,400 metres (8,000 ft) without difficulty." [] def: "Multiple symptoms associated with reduced oxygen at high altitude." [MESH:D000532] synonym: "acute mountain sickness" EXACT [] synonym: "altitude hypoxia" EXACT [] synonym: "altitude illness" EXACT [] synonym: "altitude sickness" EXACT [] {comment="preferred label from MONDO"} synonym: "AMS" EXACT [] synonym: "hypobaropathy" EXACT [] synonym: "mountain sickness" EXACT [] synonym: "soroche" EXACT [] synonym: "the altitude bends" EXACT [] xref: ICD10:T70.2 xref: MedDRA:10077616 xref: MESH:D000532 {source="EFO:1000782", source="MONDO:equivalentTo"} xref: MeSH:D000532 xref: MONDO:0006625 xref: Wikipedia:Altitude_sickness {source="EFO:1000782"} is_a: EFO:0000546 ! injury is_a: EFO:0000684 {source="https://github.com/monarch-initiative/mondo/issues/1013"} ! respiratory system disease relationship: disease_has_feature EFO:0009444 ! hypoxia property_value: exactMatch http://identifiers.org/mesh/D000532 property_value: excluded_subClassOf MONDO:0004995 {source="EFO:1000782"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000783 name: diabetic neuropathy def: "A chronic, pathological complication associated with diabetes mellitus, where nerve damages are incurred due to diabetic microvascular injury involving small blood vessels that supply these nerves, resulting in peripheral and/or autonomic nerve dysfunction." [NCIT:P378] def: "Peripheral, autonomic, and cranial nerve disorders that are associated with DIABETES MELLITUS. These conditions usually result from diabetic microvascular injury involving small blood vessels that supply nerves ( VASA NERVORUM). Relatively common conditions which may be associated with diabetic neuropathy include third nerve palsy (see OCULOMOTOR NERVE DISEASES); MONONEUROPATHY; mononeuropathy multiplex; diabetic amyotrophy; a painful POLYNEUROPATHY; autonomic neuropathy; and thoracoabdominal neuropathy. (From Adams et al., Principles of Neurology, 6th ed, p1325)" [] synonym: "Amyotrophies, Diabetic" EXACT [] synonym: "Amyotrophy, Diabetic" EXACT [] synonym: "Asymmetric Polyneuropathy, Diabetic" EXACT [] synonym: "Diabetic Amyotrophies" EXACT [] synonym: "Diabetic Amyotrophy" EXACT [] synonym: "Diabetic Asymmetric Polyneuropathies" EXACT [] synonym: "Diabetic Asymmetric Polyneuropathy" EXACT [] synonym: "Diabetic Autonomic Neuropathies" EXACT [] synonym: "Diabetic Autonomic Neuropathy" EXACT [] synonym: "Diabetic Mononeuropathies" EXACT [] synonym: "Diabetic Mononeuropathy" EXACT [] synonym: "Diabetic Mononeuropathy Simplex" EXACT [] synonym: "Diabetic Mononeuropathy Simplices" EXACT [] synonym: "diabetic neuropathies" EXACT [] synonym: "diabetic neuropathy" EXACT [] {comment="preferred label from MONDO"} synonym: "Painful Diabetic Neuropathies" EXACT [] synonym: "Painful Diabetic Neuropathy" EXACT [] xref: DOID:11503 xref: DOID:12785 xref: DOID:9743 {source="MONDO:equivalentTo"} xref: ICD9:250.6 {source="DOID:9743"} xref: MedDRA:10012680 xref: MESH:D003929 {source="DOID:9743", source="MONDO:equivalentTo", source="EFO:1000783"} xref: MeSH:D003929 xref: MONDO:0006626 xref: NCIT:C26748 {source="DOID:9743", source="MONDO:equivalentTo"} xref: SCTID:230572002 {source="DOID:9743", source="MONDO:equivalentTo"} xref: SNOMEDCT:230576004 xref: SNOMEDCT:230577008 xref: SNOMEDCT:39058009 xref: SNOMEDCT:39127005 xref: SNOMEDCT:49455004 xref: SNOMEDCT:50620007 xref: SNOMEDCT:81830002 xref: UMLS:C0011882 {source="DOID:9743", source="MONDO:equivalentTo", source="NCIT:C26748"} is_a: EFO:0003100 {source="DOID:9743", source="EFO:1000783", source="EFO:1000783/inferred", source="MONDO:Redundant", source="NCIT:C26748"} ! peripheral neuropathy is_a: EFO:0009532 ! autonomic nervous system disease intersection_of: EFO:0003100 ! peripheral neuropathy intersection_of: disease_arises_from_feature EFO:0000400 ! diabetes mellitus relationship: disease_arises_from_feature EFO:0000400 ! diabetes mellitus property_value: exactMatch DOID:9743 property_value: exactMatch http://identifiers.org/mesh/D003929 property_value: exactMatch http://identifiers.org/snomedct/230572002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011882 property_value: exactMatch NCIT:C26748 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000784 name: microscopic polyangiitis def: "A primary systemic vasculitis of small- and some medium-sized vessels. It is characterized by a tropism for kidneys and lungs, positive association with anti-neutrophil cytoplasmic antibodies (ANCA), and a paucity of immunoglobulin deposits in vessel walls." [] def: "Microscopic polyangiitis (MPA) is an inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs." [Orphanet:727] subset: gard_rare {source="GARD:0003652"} subset: ordo_disease {source="Orphanet:727"} synonym: "Hypersensitivity angiitis" EXACT [] synonym: "Micropolyangiitis" EXACT [Orphanet:727] synonym: "microscopic polyangiitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Microscopic polyarteritis" EXACT [] synonym: "microscopic polyarteritis" EXACT [Orphanet:727] synonym: "MPA" EXACT ABBREVIATION [Orphanet:727] xref: ICD10:M31.7 xref: ICD10CM:M31.7 {source="EFO:1000784", source="MONDO:equivalentTo", source="Orphanet:727", source="Orphanet:727/e"} xref: MedDRA:10063344 {source="EFO:1000784", source="Orphanet:727", source="Orphanet:727/e"} xref: MESH:D055953 {source="EFO:1000784", source="MONDO:equivalentTo", source="Orphanet:727", source="Orphanet:727/e"} xref: MeSH:D055953 xref: MONDO:0019124 xref: NCIT:C70549 {source="MONDO:equivalentTo"} xref: Orphanet:727 {source="EFO:1000784", source="MONDO:equivalentTo"} xref: SCTID:239928004 {source="MONDO:equivalentTo"} xref: UMLS:C2347126 {source="MONDO:equivalentTo", source="NCIT:C70549"} is_a: EFO:0009011 {source="NCIT:C70549"} ! Arteritis is_a: MONDO:0015492 {source="MESH:D055953", source="Orphanet:727"} ! anti-neutrophil cytoplasmic antibody-associated vasculitis property_value: closeMatch http://identifiers.org/meddra/10063344 property_value: exactMatch http://identifiers.org/mesh/D055953 property_value: exactMatch http://identifiers.org/snomedct/239928004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2347126 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/M31.7 property_value: exactMatch NCIT:C70549 property_value: exactMatch Orphanet:727 property_value: excluded_subClassOf MONDO:0019724 {source="Orphanet:727"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5261 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3652/microscopic-polyangiitis xsd:anyURI {source="GARD:0003652"} [Term] id: EFO:1000785 name: Sezary's disease def: "Sezary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sezary cells)." [Orphanet:3162] subset: ordo_disease {source="Orphanet:3162"} synonym: "CTCL / Sezary syndrome" EXACT [NCIT:C3366] synonym: "cutaneous T-cell lymphoma/Sezary syndrome" EXACT [NCIT:C3366] synonym: "SC)zary syndrome" EXACT [NCIT:C3366] synonym: "Sezary disease" EXACT [DOID:8541] synonym: "Sezary lymphoma" EXACT [Orphanet:3162] synonym: "Sezary syndrome" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "Sezary syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Sezary syndrome" EXACT [DOID:8541, MTH:U002240, NCIT:C3366] synonym: "Sezary's disease" EXACT [MONDO:0006628, NCIT:C3366] synonym: "Sezary's lymphoma" RELATED [GARD:0007629] synonym: "SS" RELATED ABBREVIATION [ONCOTREE:SS] synonym: "Sézary lymphoma" EXACT [Orphanet:3162] synonym: "Sézary syndrome" EXACT [Orphanet:3162] xref: DOID:8541 {source="MONDO:equivalentTo", source="EFO:1000785"} xref: EFO:1000785 {source="MONDO:equivalentTo"} xref: GARD:0007629 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10:C84.1 {source="ORDO:3162/ntbt", source="EFO:1000785", source="DOID:8541", source="Orphanet:3162"} xref: ICD10:C84.10 {source="DOID:8541"} xref: ICD9:202.2 {source="EFO:1000785", source="DOID:8541"} xref: ICDO:9701/3 {source="NCIT:C3366"} xref: MedDRA:10040493 {source="ORDO:3162/e", source="Orphanet:3162"} xref: MedDRA:10040493 {source="Orphanet:3162/e", source="Orphanet:3162"} xref: MedDRA:10040500 {source="EFO:1000785"} xref: MESH:D012751 {source="MONDO:equivalentTo", source="EFO:1000785", source="ORDO:3162/e", source="DOID:8541", source="Orphanet:3162"} xref: MESH:D012751 {source="Orphanet:3162/e", source="MONDO:equivalentTo", source="EFO:1000785", source="DOID:8541", source="Orphanet:3162"} xref: MONDO:0017844 xref: NCIT:C3366 {source="MONDO:equivalentTo", source="DOID:8541"} xref: ONCOTREE:SS {source="MONDO:equivalentTo"} xref: Orphanet:3162 {source="MONDO:equivalentTo"} xref: SCTID:118611004 {source="MONDO:equivalentTo", source="DOID:8541"} xref: UMLS:C0036920 {source="MONDO:equivalentTo", source="NCIT:C3366", source="ORDO:3162/e", source="DOID:8541", source="Orphanet:3162"} xref: UMLS:C0036920 {source="Orphanet:3162/e", source="MONDO:equivalentTo", source="NCIT:C3366", source="DOID:8541", source="Orphanet:3162"} is_a: EFO:0002913 {source="DOID:8541", source="EFO:1000785", source="MESH:D012751"} ! Cutaneous T-cell lymphoma is_a: MONDO:0015817 {source="Orphanet:3162"} ! aggressive primary cutaneous T-cell lymphoma property_value: closeMatch http://identifiers.org/meddra/10040493 property_value: closeMatch http://identifiers.org/meddra/10040500 property_value: closeMatch http://identifiers.org/meddra/10040500 property_value: closeMatch http://identifiers.org/snomedct/188629004 property_value: closeMatch http://identifiers.org/snomedct/188638002 property_value: closeMatch http://identifiers.org/snomedct/4950009 property_value: exactMatch DOID:8541 property_value: exactMatch DOID:8541 property_value: exactMatch http://identifiers.org/meddra/10040493 property_value: exactMatch http://identifiers.org/mesh/D012751 property_value: exactMatch http://identifiers.org/mesh/D012751 property_value: exactMatch http://identifiers.org/snomedct/118611004 property_value: exactMatch http://identifiers.org/snomedct/118611004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036920 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036920 property_value: exactMatch NCIT:C3366 property_value: exactMatch NCIT:C3366 property_value: exactMatch Orphanet:3162 [Term] id: EFO:1000786 name: osteoarthritis, hip def: "Noninflammatory degenerative disease of the hip joint which usually appears in late middle or old age. It is characterized by growth or maturational disturbances in the femoral neck and head, as well as acetabular dysplasia. A dominant symptom is pain on weight-bearing or motion." [MESH:D015207] def: "Osteoarthritis of the hip is also very common and can affect either one or both hips.\nYou’re most likely to feel pain deep at the front of your groin, but also at the side and front of your thigh, in your buttock or down to your knee (this is called radiated pain).\nIf you have severe hip osteoarthritis, you may find your affected leg seems a little shorter than the other because of the bone on either side of your joint being crunched up.\n" [] synonym: "Coxarthroses\n" EXACT [] synonym: "Coxarthrosis\n" EXACT [] synonym: "Hip Osteoarthritides\n" EXACT [] synonym: "hip osteoarthritis" EXACT [NCIT:C34876] synonym: "Hip Osteoarthritis\n" EXACT [] synonym: "Osteoarthritides, Hip\n" EXACT [] synonym: "Osteoarthritis Of Hip\n" EXACT [] synonym: "Osteoarthritis Of Hips" EXACT [] synonym: "osteoarthritis of the hip" EXACT [] synonym: "osteoarthritis, hip" EXACT [] {comment="preferred label from MONDO"} xref: ICD10:M16 xref: MESH:D015207 {source="MONDO:equivalentTo", source="EFO:1000786"} xref: MeSH:D015207 xref: MONDO:0006629 xref: NCIT:C34876 {source="MONDO:equivalentTo"} xref: UMLS:C0029410 {source="MONDO:directSiblingOf", source="NCIT:C34876"} is_a: MONDO:0005178 {source="EFO:1000786", source="MESH:D015207", source="NCIT:C34876"} ! osteoarthritis property_value: definition:citation http://www.arthritisresearchuk.org/arthritis-information/conditions/osteoarthritis/which-joints-are-affected/hips.aspx xsd:string property_value: exactMatch http://identifiers.org/mesh/D015207 property_value: exactMatch NCIT:C34876 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000787 name: osteoarthritis, spine def: "A degenerative joint disease involving the spine. It is characterized by progressive deterioration of the spinal articular cartilage (cartilage, articular), usually with hardening of the subchondral bone and outgrowth of bone spurs (osteophyte)." [MESH:D055013] def: "Changes that affect the bones of your spine and the discs between the bones are often called spondylosis, but they’re very similar to the changes caused by osteoarthritis in other joints. X-rays show that spondylosis is extremely common, but it’s not the most common cause of back pain or neck pain and often doesn’t cause any problems at all." [] synonym: "Lumbar Osteoarthritis\n" EXACT [] synonym: "osteoarthritis of the neck and back" EXACT [] synonym: "Osteoarthritis, Lumbar" EXACT [] synonym: "Osteoarthritis, Spinal\n" EXACT [] synonym: "osteoarthritis, spine" EXACT [] {comment="preferred label from MONDO"} synonym: "Spinal Osteoarthritis\n" EXACT [] synonym: "Spine Osteoarthritis\n" EXACT [] xref: MESH:D055013 {source="MONDO:equivalentTo", source="EFO:1000787"} xref: MeSH:D055013 xref: MONDO:0006630 xref: SCTID:8847002 {source="MONDO:equivalentTo"} is_a: MONDO:0005178 {source="EFO:1000787", source="MESH:D055013"} ! osteoarthritis property_value: definition:citation http://www.arthritisresearchuk.org/arthritis-information/conditions/osteoarthritis/which-joints-are-affected/neck-and-back.aspx xsd:string property_value: exactMatch http://identifiers.org/mesh/D055013 property_value: exactMatch http://identifiers.org/snomedct/8847002 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000788 name: osteoarthritis, toe def: "Osteoarthritis of the foot generally affects the joint at the base of your big toe. It can cause your toe to:\n- become stiff over time, which can make it difficult and painful to walk – this is called hallux rigidus\n- become bent, which can lead to painful bunions (bony lumps at the base of your big toe) – this is called hallux valgus.\n\nOsteoarthritis of the mid-foot is also quite common, especially in older people, and may cause an obvious bony swelling (osteophyte) on the top of your mid-foot.\n\nAnkle osteoarthritis is least common and may cause your heel to move to an unusual angle." [] def: "Osteoarthritis of the foot generally affects the joint at the base of your big toe. It can cause your toe to: - become stiff over time, which can make it difficult and painful to walk – this is called hallux rigidus - become bent, which can lead to painful bunions (bony lumps at the base of your big toe) – this is called hallux valgus. Osteoarthritis of the mid-foot is also quite common, especially in older people, and may cause an obvious bony swelling (osteophyte) on the top of your mid-foot. Ankle osteoarthritis is least common and may cause your heel to move to an unusual angle." [EFO:1000788] synonym: "osteoarthritis of the toe" EXACT [] synonym: "osteoarthritis, toe" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0006631 is_a: MONDO:0005178 {source="EFO:1000788"} ! osteoarthritis property_value: definition:citation http://www.arthritisresearchuk.org/arthritis-information/conditions/osteoarthritis/which-joints-are-affected/big-toes.aspx xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000789 name: osteoarthritis, hand def: "Osteoarthritis of the hands usually happens as part of nodal osteoarthritis (a form of osteoarthritis that runs in families). This mainly affects women and often starts in your 40s or 50s, around the menopause (the time when menstruation ends and it’s no longer possible to have children)." [EFO:1000789] synonym: "osteoarthritis of the hand" EXACT [] synonym: "osteoarthritis, hand" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0006632 is_a: MONDO:0005178 {source="EFO:1000789"} ! osteoarthritis property_value: definition:citation http://www.arthritisresearchuk.org/arthritis-information/conditions/osteoarthritis/which-joints-are-affected/hands.aspx xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000790 name: acalculous cholecystitis def: "Inflammation of the gallbladder in the absence of gallstones." [NCIT:P378] def: "Inflammation of the GALLBLADDER wall in the absence of GALLSTONES." [] synonym: "Acalculous Cholecystitis" EXACT [] synonym: "acalculous cholecystitis" EXACT [] {comment="preferred label from MONDO"} synonym: "acute acalculous cholecystitis" EXACT [] synonym: "acute acalculous cholecystitis" NARROW [DOID:2828] synonym: "acute cholecystitis without calculus" EXACT [DOID:2828] synonym: "acute cholecystitis without calculus (disorder)" EXACT [] synonym: "cholecystitis without calculus" EXACT [DOID:2828] synonym: "cholecystitis without calculus (disorder)" EXACT [] xref: DOID:2828 {source="EFO:1000790", source="MONDO:equivalentTo"} xref: MedDRA:10000347 {source="EFO:1000790"} xref: MESH:D042101 {source="EFO:1000790", source="MONDO:equivalentTo", source="DOID:2828"} xref: MeSH:D042101 xref: MONDO:0006633 xref: NCIT:C35578 {source="EFO:1000790", source="MONDO:equivalentTo", source="DOID:2828"} xref: NCIt:C35578 xref: SCTID:19968009 {source="MONDO:equivalentTo", source="DOID:2828"} xref: UMLS:C0267841 {source="MONDO:equivalentTo", source="NCIT:C35578", source="DOID:2828"} xref: UMLS:C0267842 {source="MONDO:equivalentTo"} is_a: EFO:0003832 ! gallbladder disease is_a: EFO:1000025 {source="EFO:1000790"} ! cystitis is_a: MONDO:0004789 ! cholangitis relationship: RO:0000056 GO:0006954 ! participates_in inflammatory response property_value: closeMatch http://identifiers.org/meddra/10000347 property_value: exactMatch DOID:2828 property_value: exactMatch http://identifiers.org/mesh/D042101 property_value: exactMatch http://identifiers.org/snomedct/19968009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267841 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267842 property_value: exactMatch NCIT:C35578 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000791 name: acidophil adenoma def: "An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic dyes." [NCIT:C6780] synonym: "acidophil adenoma" EXACT [DOID:5392, NCIT:C6780] synonym: "eosinophil adenoma" EXACT [DOID:5392, NCIT:C6780] synonym: "pituitary gland acidophil adenoma" EXACT [NCIT:C6780] synonym: "pituitary gland acidophil adenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "pituitary gland acidophil adenoma" EXACT [] {comment="preferred label from MONDO"} xref: DOID:5392 {source="EFO:1000791", source="MONDO:equivalentTo"} xref: EFO:1000791 {source="MONDO:equivalentTo"} xref: ICDO:8280/0 {source="NCIT:C6780"} xref: MESH:D000239 {source="EFO:1000791", source="MONDO:equivalentTo", source="DOID:5392"} xref: MONDO:0006634 xref: NCIT:C6780 {source="EFO:1000791", source="MONDO:equivalentTo", source="DOID:5392"} xref: UMLS:C0001433 {source="NCIT:C6780", source="MONDO:equivalentTo", source="DOID:5392"} is_a: EFO:1000478 {source="DOID:5392", source="EFO:1000791"} ! Pituitary Gland Adenoma property_value: closeMatch http://identifiers.org/snomedct/21109002 property_value: exactMatch DOID:5392 property_value: exactMatch DOID:5392 property_value: exactMatch http://identifiers.org/mesh/D000239 property_value: exactMatch http://identifiers.org/mesh/D000239 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001433 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001433 property_value: exactMatch NCIT:C6780 property_value: exactMatch NCIT:C6780 property_value: excluded_subClassOf MONDO:0004805 {source="DOID:5392"} [Term] id: EFO:1000792 name: Acinetobacter infectious disease def: "Infections with bacteria of the genus ACINETOBACTER." [] def: "Infections with bacteria of the genus acinetobacter." [MESH:D000151] synonym: "Acinetobacter caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Acinetobacter disease or disorder" EXACT [] synonym: "Acinetobacter infection" RELATED [MESH:D000151] synonym: "Acinetobacter Infections" EXACT [] synonym: "Acinetobacter infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "infection, Acinetobacter" RELATED [MESH:D000151] synonym: "infection, Mimae" RELATED [MESH:D000151] synonym: "infections, Acinetobacter" RELATED [MESH:D000151] synonym: "infections, Mimae" RELATED [MESH:D000151] synonym: "Mimae infection" RELATED [MESH:D000151] synonym: "Mimae infections" RELATED [MESH:D000151] xref: DOID:3091 {source="EFO:1000792", source="MONDO:equivalentTo", source="MONDO:obsolete"} xref: MESH:D000151 {source="EFO:1000792", source="MONDO:equivalentTo"} xref: MeSH:D000151 xref: MONDO:0006635 xref: UMLS:C0001139 {source="MONDO:equivalentTo"} is_a: EFO:1001072 ! opportunistic Moraxellaceae infectious disease property_value: exactMatch DOID:3091 property_value: exactMatch http://identifiers.org/mesh/D000151 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001139 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000793 name: Actinobacillus infectious disease def: "Infections with bacteria of the genus ACTINOBACILLUS." [] def: "Infections with bacteria of the genus actinobacillus." [MESH:D000189] synonym: "Actinobacillus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Actinobacillus disease or disorder" EXACT [] synonym: "Actinobacillus infection" RELATED [MESH:D000189] synonym: "Actinobacillus infection (disorder)" EXACT [] synonym: "Actinobacillus Infections" EXACT [] synonym: "Actinobacillus infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "infection, Actinobacillus" RELATED [MESH:D000189] synonym: "infections, Actinobacillus" RELATED [MESH:D000189] xref: DOID:4975 xref: MESH:D000189 {source="EFO:1000793", source="MONDO:equivalentTo"} xref: MeSH:D000189 xref: MONDO:0006636 is_a: EFO:0000771 {source="EFO:1000793", source="MESH:D000189/inferred", source="MONDO:Redundant"} ! bacterial disease property_value: exactMatch http://identifiers.org/mesh/D000189 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000794 name: acute kidney tubular necrosis def: "Acute kidney failure resulting from destruction of EPITHELIAL CELLS of the KIDNEY TUBULES. It is commonly attributed to exposure to toxic agents or renal ISCHEMIA following severe TRAUMA." [] def: "Acute renal failure caused by the cell death of the renal tubules. Causes include nephrotoxins, cytotoxic drugs, and antibiotics." [NCIT:P378] synonym: "acute kidney tubular necrosis" EXACT [] {comment="preferred label from MONDO"} synonym: "acute renal failure with lesion of tubular necrosis" EXACT [DOID:12556, ICD9CM:584.5] synonym: "acute renal Failure with tubular necrosis" EXACT [] synonym: "acute renal failure with tubular necrosis" EXACT [DOID:12556, NCIT:C34749] synonym: "acute tubular necrosis" EXACT [DOID:12556] synonym: "acute tubule necrosis" EXACT [DOID:12556] synonym: "ATN - acute tubular necrosis" EXACT [DOID:12556] synonym: "Kidney Tubular Necrosis, Acute" EXACT [] xref: DOID:12556 {source="MONDO:equivalentTo", source="EFO:1000794"} xref: HP:0008682 {source="MONDO:otherHierarchy"} xref: ICD10:N17.0 xref: ICD9:584.5 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10023441 {source="EFO:1000794"} xref: MESH:D007683 {source="DOID:12556", source="MONDO:equivalentTo", source="EFO:1000794"} xref: MeSH:D007683 xref: MONDO:0006637 xref: NCIT:C34749 {source="DOID:12556", source="MONDO:equivalentTo", source="EFO:1000794"} xref: NCIt:C34749 xref: SCTID:23697004 {source="DOID:12556", source="MONDO:relatedTo"} xref: SCTID:35455006 {source="DOID:12556", source="MONDO:equivalentTo"} xref: UMLS:C0022672 {source="NCIT:C34749", source="DOID:12556", source="MONDO:equivalentTo"} is_a: MONDO:0002492 {source="DOID:12556", source="MESH:D007683", source="NCIT:C34749"} ! acute kidney failure property_value: closeMatch http://identifiers.org/meddra/10023441 property_value: exactMatch DOID:12556 property_value: exactMatch http://identifiers.org/mesh/D007683 property_value: exactMatch http://identifiers.org/snomedct/35455006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022672 property_value: exactMatch NCIT:C34749 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1000795 name: acute retinal necrosis syndrome def: "Mild to fulminant necrotizing vaso-occlusive retinitis associated with a high incidence of retinal detachment and poor vision outcome." [MESH:D015882] synonym: "acute retinal necrosis" EXACT [DOID:3611] synonym: "acute retinal necrosis (disorder)" EXACT [] synonym: "acute retinal necrosis syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Retinal Necrosis Syndrome, Acute" EXACT [] xref: DOID:3611 {source="EFO:1000795", source="MONDO:equivalentTo"} xref: MESH:D015882 {source="EFO:1000795", source="MONDO:equivalentTo", source="DOID:3611"} xref: MeSH:D015882 xref: MONDO:0006638 xref: SCTID:231986000 {source="EFO:1000795", source="MONDO:equivalentTo", source="DOID:3611"} xref: SNOMEDCT:231986000 xref: UMLS:C0035319 {source="MONDO:equivalentTo", source="DOID:3611"} is_a: MONDO:0002708 {source="DOID:3611", source="MESH:D015882"} ! retinitis is_a: MONDO:0020683 ! acute disease property_value: exactMatch DOID:3611 property_value: exactMatch http://identifiers.org/mesh/D015882 property_value: exactMatch http://identifiers.org/snomedct/231986000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035319 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000796 name: adrenal cortex carcinoma def: "A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival." [NCIT:C9325] comment: NCIT treats carcinoma and adenocarcinoma as synonyms. subset: ordo_disease {source="Orphanet:1501"} synonym: "ACC" EXACT ABBREVIATION [ONCOTREE:ACC] synonym: "ACC" RELATED ABBREVIATION [ONCOTREE:ACC] synonym: "adenocarcinoma, adrenocortical, malignant" EXACT [NCIT:C9325] synonym: "adrenal cortex adenocarcinoma" EXACT [DOID:3959, NCIT:C9325, NCIT:C9326] synonym: "adrenal cortex cancer" BROAD [NCIT:C9325] synonym: "adrenal cortex cancer" EXACT [NCIT:C9325] synonym: "adrenal cortex carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "adrenal cortex carcinoma" EXACT [MONDO:patterns/location, NCIT:C9325] synonym: "adrenal cortex carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "adrenal cortical adenocarcinoma" EXACT [DOID:3959, MONDO:0002818, NCIT:C9325] synonym: "adrenal cortical carcinoma" EXACT [NCIT:C9325] synonym: "adrenal cortical carcinoma (morphologic abnormality)" EXACT [DOID:3948] synonym: "adrenal cortical tumors" BROAD [DOID:660] synonym: "adrenal cortical tumors" EXACT [DOID:660] synonym: "adrenal cortical tumours" BROAD OMO:0003005 [] synonym: "adrenocortical cancer" BROAD [NCIT:C9325] synonym: "adrenocortical cancer" EXACT [NCIT:C9325] synonym: "adrenocortical carcinoma" EXACT [MONDO:0015460, MONDO:ambiguous, NCIT:C9325] synonym: "adrenocortical carcinoma (disease)" EXACT [MONDO:0005241] synonym: "cancer of the adrenal cortex" BROAD [NCIT:C9325] synonym: "cancer of the adrenal cortex" EXACT [NCIT:C9325] synonym: "carcinoma of adrenal cortex" EXACT [MONDO:patterns/carcinoma, NCIT:C9325] synonym: "carcinoma of the adrenal cortex" EXACT [DOID:3948, NCIT:C9325] synonym: "carcinoma, adrenocortical, malignant" EXACT [NCIT:C9325] synonym: "cortical cell carcinoma" EXACT [NCIT:C9325] synonym: "malignant adrenocortical tumor" BROAD [DOID:660, NCIT:C9327] synonym: "malignant adrenocortical tumor" EXACT [DOID:660, NCIT:C9327] synonym: "malignant adrenocortical tumour" BROAD OMO:0003005 [] synonym: "malignant neoplasm of adrenal cortex" BROAD [DOID:660] synonym: "malignant neoplasm of adrenal cortex" EXACT [DOID:660] synonym: "malignant tumor of adrenal cortex" BROAD [DOID:660] synonym: "malignant tumour of adrenal cortex" BROAD OMO:0003005 [] synonym: "malignant tumour of adrenal cortex" EXACT [DOID:660] xref: DOID:3948 {source="MONDO:equivalentTo", source="EFO:0003093"} xref: DOID:3959 {source="MONDO:equivalentTo"} xref: DOID:660 {source="MONDO:equivalentTo", source="EFO:1000796"} xref: EFO:1000796 {source="MONDO:equivalentTo"} xref: GARD:0000558 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0006744 {source="MONDO:otherHierarchy"} xref: ICD10:C74.0 {source="Orphanet:1501", source="ORDO:1501/e", source="DOID:660"} xref: ICDO:8370/3 {source="NCIT:C9325"} xref: MedDRA:10001388 {source="Orphanet:1501", source="ORDO:1501/e"} xref: MedDRA:10001388 {source="Orphanet:1501", source="Orphanet:1501/e"} xref: MONDO:0006639 xref: NCIT:C2858 {source="MONDO:relatedTo", source="DOID:660"} xref: NCIT:C9325 {source="MONDO:equivalentTo", source="EFO:1000796", source="EFO:0003093", source="DOID:3948"} xref: OMIM:202300 xref: ONCOTREE:ACC {source="MONDO:equivalentTo"} xref: Orphanet:1501 {source="MONDO:equivalentTo"} xref: SCTID:255035007 {source="MONDO:equivalentTo", source="DOID:3948"} xref: UMLS:C0206686 {source="NCIT:C9325", source="MONDO:equivalentTo", source="Orphanet:1501", source="ORDO:1501/e", source="DOID:3948"} xref: UMLS:C0206686 {source="NCIT:C9325", source="MONDO:equivalentTo", source="Orphanet:1501", source="DOID:3948", source="Orphanet:1501/e"} is_a: EFO:0000681 ! renal cell carcinoma is_a: MONDO:0002095 ! vascular cancer is_a: MONDO:0002814 ! adrenal carcinoma is_a: MONDO:0021312 {source="MONDO:Redundant", source="NCIT:C9325"} ! malignant tumor of adrenal cortex property_value: closeMatch http://identifiers.org/meddra/10001388 property_value: closeMatch http://identifiers.org/mesh/D000306 property_value: closeMatch http://identifiers.org/snomedct/127022002 property_value: closeMatch http://identifiers.org/snomedct/18365006 property_value: closeMatch http://identifiers.org/snomedct/189645007 property_value: closeMatch http://identifiers.org/snomedct/189648009 property_value: closeMatch http://identifiers.org/snomedct/2227007 property_value: closeMatch http://identifiers.org/snomedct/363479004 property_value: closeMatch http://identifiers.org/snomedct/93664009 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0001618 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0346402 property_value: exactMatch DOID:3948 property_value: exactMatch DOID:3948 property_value: exactMatch DOID:3959 property_value: exactMatch DOID:3959 property_value: exactMatch DOID:660 property_value: exactMatch DOID:660 property_value: exactMatch http://identifiers.org/meddra/10001388 property_value: exactMatch http://identifiers.org/mesh/D018268 property_value: exactMatch http://identifiers.org/snomedct/255035007 property_value: exactMatch http://identifiers.org/snomedct/255035007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206686 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206686 property_value: exactMatch NCIT:C9325 property_value: exactMatch NCIT:C9325 property_value: exactMatch Orphanet:1501 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: excluded_subClassOf MONDO:0018627 {source="Orphanet:1501"} property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:1000797 name: adrenal gland hyperfunction def: "Excess production of ADRENAL CORTEX HORMONES such as ALDOSTERONE; HYDROCORTISONE; DEHYDROEPIANDROSTERONE; and/or ANDROSTENEDIONE. Hyperadrenal syndromes include CUSHING SYNDROME; HYPERALDOSTERONISM; and VIRILISM." [] def: "Excess production of adrenal cortex hormones." [MESH:D000308] synonym: "adrenal gland hyperfunction" EXACT [] {comment="preferred label from MONDO"} synonym: "adrenal gland hyperfunction" EXACT [MESH:D000308] synonym: "Adrenocortical Hyperfunction" EXACT [] synonym: "Adrenocortical hyperfunction" EXACT [] synonym: "adrenocortical hyperfunction" EXACT [DOID:3947] synonym: "disorder of corticoadrenal overactivity" EXACT [] synonym: "disorder of corticoadrenal overactivity" RELATED [] synonym: "hyperadrenalism" EXACT [DOID:3947, MESH:D000308] synonym: "hyperadrenocorticism" RELATED [MESH:D000308] synonym: "hypercorticism" RELATED [MESH:D000308] synonym: "hypercortisolemia" EXACT [NCIT:C113208] synonym: "hypercortisolism" EXACT [DOID:3947] synonym: "hypercortisolism (disorder)" EXACT [] synonym: "hyperfunction, adrenal gland" RELATED [MESH:D000308] synonym: "hyperfunction, adrenocortical" RELATED [MESH:D000308] synonym: "Overproduction of cortisol" EXACT [] xref: DOID:3947 {source="MONDO:equivalentTo", source="EFO:1000797"} xref: HP:0003118 {source="MONDO:otherHierarchy"} xref: ICD9:255.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D000308 {source="MONDO:equivalentTo", source="EFO:1000797", source="DOID:3947"} xref: MeSH:D000308 xref: MONDO:0006640 xref: SCTID:275437005 {source="MONDO:equivalentTo", source="DOID:3947"} xref: UMLS:C0001622 {source="MONDO:equivalentTo", source="DOID:3947"} xref: UMLS:CN205287 {source="MONDO:equivalentTo"} is_a: MONDO:0002816 {source="DOID:3947"} ! adrenal cortex disorder property_value: exactMatch DOID:3947 property_value: exactMatch http://identifiers.org/mesh/D000308 property_value: exactMatch http://identifiers.org/snomedct/275437005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001622 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205287 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3376 xsd:anyURI [Term] id: EFO:1000798 name: adrenal rest tumor def: "Neoplasm derived from displaced cells (rest cells) of the primordial ADRENAL GLANDS, generally in patients with CONGENITAL ADRENAL HYPERPLASIA. Adrenal rest tumors have been identified in TESTES; LIVER; and other tissues. They are dependent on ADRENOCORTICOTROPIN for growth and adrenal steroid secretion." [] synonym: "Adrenal Rest neoplasm" EXACT [] synonym: "Adrenal Rest Tumor" EXACT [] xref: DOID:1786 xref: MeSH:D000314 xref: NCIt:C2860 xref: SNOMEDCT:54292009 is_a: EFO:0003769 ! endocrine neoplasm property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000799 name: afferent loop syndrome def: "A complication of gastrojejunostomy (BILLROTH II PROCEDURE), a reconstructive GASTROENTEROSTOMY. It is caused by acute (complete) or chronic (intermittent) obstruction of the afferent jejunal loop due to HERNIA, intussusception, kinking, VOLVULUS, etc. It is characterized by PAIN and VOMITING of BILE-stained fluid." [] def: "A complication of gastrojejunostomy (billroth II procedure), a reconstructive gastroenterostomy. It is caused by acute (complete) or chronic (intermittent) obstruction of the afferent jejunal loop due to hernia, intussusception, kinking, volvulus, etc. It is characterized by pain and vomiting of bile-stained fluid." [MESH:D000343] synonym: "Afferent Loop Syndrome" EXACT [] synonym: "afferent loop syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Afferent loop syndrome (disorder)" EXACT [] xref: DOID:8438 {source="MONDO:equivalentTo", source="EFO:1000799"} xref: ICD9:537.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10056245 {source="EFO:1000799"} xref: MESH:D000343 {source="DOID:8438", source="MONDO:equivalentTo", source="EFO:1000799"} xref: MeSH:D000343 xref: MONDO:0006641 xref: SCTID:20813000 {source="DOID:8438", source="MONDO:equivalentTo", source="EFO:1000799"} xref: SNOMEDCT:20813000 xref: UMLS:C0001727 {source="DOID:8438", source="MONDO:equivalentTo"} is_a: MONDO:0004566 {source="DOID:8438"} ! postgastrectomy syndrome property_value: closeMatch http://identifiers.org/meddra/10056245 property_value: exactMatch DOID:8438 property_value: exactMatch http://identifiers.org/mesh/D000343 property_value: exactMatch http://identifiers.org/snomedct/20813000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001727 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000800 name: alcohol withdrawal delirium def: "An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include CONFUSION; DELUSIONS; vivid HALLUCINATIONS; TREMOR; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175)" [] def: "An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include confusion; delusions; vivid hallucinations; tremor; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175)" [MESH:D000430] synonym: "alcohol withdrawal associated autonomic hyperactivity" RELATED [MESH:D000430] synonym: "Alcohol Withdrawal Delirium" EXACT [] synonym: "alcohol withdrawal delirium" EXACT [] {comment="preferred label from MONDO"} synonym: "Alcohol withdrawal delirium (disorder)" EXACT [] synonym: "alcohol withdrawal hallucinosis" RELATED [MESH:D000430] synonym: "alcohol withdrawal induced delirium Tremens" RELATED [MESH:D000430] synonym: "alcohol withdrawal-induced delirium Tremens" RELATED [MESH:D000430] synonym: "Alcoholic delirium" EXACT [] synonym: "autonomic hyperactivity, alcohol withdrawal associated" RELATED [MESH:D000430] synonym: "Delirium tremens" EXACT [] synonym: "delirium Tremens" RELATED DEPRECATED [MESH:D000430] synonym: "delirium tremens" EXACT [] synonym: "delirium Tremens, alcohol withdrawal induced" RELATED DEPRECATED [MESH:D000430] synonym: "delirium, alcohol withdrawal" RELATED DEPRECATED [MESH:D000430] synonym: "hallucinosis, alcohol withdrawal" RELATED [MESH:D000430] synonym: "Mental and behavioral disorder due to use of alcohol: withdrawal state with delirium (disorder)" EXACT [] xref: DOID:8639 xref: ICD9:291.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:1000800"} xref: MedDRA:10001610 {source="EFO:1000800"} xref: MESH:D000430 {source="MONDO:equivalentTo", source="EFO:1000800"} xref: MeSH:D000430 xref: MONDO:0006642 xref: SCTID:8635005 {source="MONDO:equivalentTo", source="EFO:1000800"} xref: SNOMEDCT:8635005 is_a: EFO:0004777 {source="MONDO:cjm"} ! alcohol withdrawal is_a: MONDO:0002326 ! alcohol-induced mental disorder is_a: MONDO:0021698 {source="MESH:D000430", source="MESH:D000430/inferred"} ! alcohol-related disorders property_value: closeMatch http://identifiers.org/meddra/10001610 property_value: exactMatch http://identifiers.org/mesh/D000430 property_value: exactMatch http://identifiers.org/snomedct/8635005 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000801 name: alcoholic cardiomyopathy def: "A dilated cardiomyopathy which is associated with consumption of large amounts of alcohol over a period of years." [NCIT:P378] def: "Disease of CARDIAC MUSCLE resulting from chronic excessive alcohol consumption. Myocardial damage can be caused by: (1) a toxic effect of alcohol; (2) malnutrition in alcoholics such as THIAMINE DEFICIENCY; or (3) toxic effect of additives in alcoholic beverages such as COBALT. This disease is usually manifested by DYSPNEA and palpitations with CARDIOMEGALY and congestive heart failure (HEART FAILURE)." [] synonym: "Alcohol-induced heart muscle disease" EXACT [] synonym: "alcohol-induced heart muscle disease" EXACT [DOID:12935] synonym: "Alcoholic cardiomyopathy" EXACT [] synonym: "alcoholic cardiomyopathy" EXACT [DOID:12935, ICD9CM:425.5] synonym: "alcoholic cardiomyopathy" EXACT [] {comment="preferred label from MONDO"} synonym: "Cardiomyopathy, Alcoholic" EXACT [] synonym: "dilated cardiomyopathy secondary to alcohol" EXACT [DOID:12935] synonym: "Dilated cardiomyopathy secondary to alcohol (disorder)" EXACT [] xref: DOID:12935 {source="MONDO:equivalentTo", source="EFO:1000801"} xref: ICD10:I42.6 xref: ICD10CM:I42.6 {source="DOID:12935", source="MONDO:equivalentTo", source="EFO:1000801"} xref: ICD9:425.5 {source="DOID:12935", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10001616 {source="EFO:1000801"} xref: MESH:D002310 {source="DOID:12935", source="MONDO:equivalentTo", source="EFO:1000801"} xref: MeSH:D002310 xref: MONDO:0006643 xref: NCIT:C53653 {source="DOID:12935", source="MONDO:equivalentTo", source="EFO:1000801"} xref: NCIt:C53653 xref: SCTID:83521008 {source="DOID:12935", source="MONDO:equivalentTo", source="EFO:1000801"} xref: SNOMEDCT:83521008 xref: UMLS:C0007192 {source="DOID:12935", source="MONDO:equivalentTo", source="NCIT:C53653"} is_a: MONDO:0002824 {source="DOID:12935"} ! extrinsic cardiomyopathy is_a: MONDO:0021699 {source="MESH:D002310", source="MONDO:Entailed"} ! alcohol-induced disorders property_value: closeMatch http://identifiers.org/meddra/10001616 property_value: exactMatch DOID:12935 property_value: exactMatch http://identifiers.org/mesh/D002310 property_value: exactMatch http://identifiers.org/snomedct/83521008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007192 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/I42.6 property_value: exactMatch NCIT:C53653 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1000802 name: alcoholic liver cirrhosis def: "A disorder of the liver characterized by the presence of fibrotic scar tissue instead of healthy liver tissue. This condition is attributed to excessive consumption of alcoholic beverages." [NCIT:P378] def: "FIBROSIS of the hepatic parenchyma due to chronic excess ALCOHOL DRINKING." [] synonym: "Alcoholic Cirrhosis" EXACT [] synonym: "alcoholic cirrhosis" EXACT [DOID:14018, NCIT:C34782] synonym: "Alcoholic cirrhosis of liver" EXACT [] synonym: "alcoholic cirrhosis of liver" EXACT [DOID:14018, ICD9CM:571.2] synonym: "Alcoholic cirrhosis of liver (disorder)" EXACT [] synonym: "Alcoholic cirrhosis of liver (disorder) [Ambiguous]" EXACT [] synonym: "alcoholic liver cirrhosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Laennec's cirrhosis" EXACT [] synonym: "Laennec's cirrhosis" RELATED [DOID:14018] synonym: "Laennec's cirrhosis, alcoholic" EXACT [] synonym: "Laennec's cirrhosis, alcoholic" RELATED [DOID:14018] synonym: "Liver Cirrhosis, Alcoholic" EXACT [] synonym: "Portal Cirrhosis" EXACT [] synonym: "Portal cirrhosis" EXACT [] synonym: "portal cirrhosis" RELATED [DOID:14018] synonym: "Portal cirrhosis (disorder)" EXACT [] synonym: "Portal cirrhosis unspecified (disorder)" EXACT [] xref: CSP:1754-7677 {source="DOID:14018"} xref: DOID:14018 {source="MONDO:equivalentTo", source="EFO:1000802"} xref: ICD10:K70.3 xref: ICD10CM:K70.3 {source="MONDO:equivalentTo", source="DOID:14018", source="EFO:1000802"} xref: ICD9:571.2 {source="DOID:14018"} xref: MedDRA:10001618 {source="EFO:1000802"} xref: MESH:D008104 {source="MONDO:equivalentTo", source="DOID:14018", source="EFO:1000802"} xref: MeSH:D008104 xref: MONDO:0006644 xref: NCIT:C34782 {source="MONDO:equivalentTo", source="DOID:14018", source="EFO:1000802"} xref: NCIt:C34782 xref: SCTID:419728003 {source="MONDO:equivalentTo"} xref: SNOMEDCT:420054005 xref: UMLS:C0023891 {source="MONDO:equivalentTo", source="DOID:14018"} xref: UMLS:C1622502 {source="MONDO:equivalentTo"} is_a: EFO:0001422 {source="DOID:14018", source="EFO:1000802", source="MESH:D008104", source="MONDO:Redundant", source="NCIT:C34782"} ! cirrhosis of liver is_a: EFO:0008573 ! alcoholic liver disease property_value: closeMatch http://identifiers.org/meddra/10001618 property_value: exactMatch DOID:14018 property_value: exactMatch http://identifiers.org/mesh/D008104 property_value: exactMatch http://identifiers.org/snomedct/419728003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023891 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1622502 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K70.3 property_value: exactMatch NCIT:C34782 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1000803 name: alcoholic neuropathy def: "A condition where damage to the peripheral nervous system (including the peripheral elements of the autonomic nervous system) is associated with chronic ingestion of alcoholic beverages. The disorder may be caused by a direct effect of alcohol, an associated nutritional deficiency, or a combination of factors. Clinical manifestations include variable degrees of weakness; ATROPHY; PARESTHESIAS; pain; loss of reflexes; sensory loss; diaphoresis; and postural hypotension. (From Arch Neurol 1995;52(1):45-51; Adams et al., Principles of Neurology, 6th ed, p1146)" [] def: "Any disease affecting more than one nerve." [] synonym: "Alcohol-related polyneuropathy" EXACT [] synonym: "alcohol-related polyneuropathy" EXACT [DOID:14183] synonym: "Alcoholic Neuropathy" EXACT [] synonym: "alcoholic neuropathy" EXACT [DOID:14183] synonym: "Alcoholic polyneuropathy" EXACT [] synonym: "alcoholic polyneuropathy" EXACT [] {comment="preferred label from MONDO"} xref: DOID:14183 {source="MONDO:equivalentTo", source="EFO:1000803"} xref: ICD10CM:G62.1 {source="DOID:14183", source="MONDO:equivalentTo"} xref: ICD9:357.5 {source="DOID:14183", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D020269 {source="DOID:14183", source="MONDO:equivalentTo", source="EFO:1000803"} xref: MeSH:D020269 xref: MONDO:0006645 xref: NCIT:C26926 {source="DOID:14183", source="MONDO:equivalentTo"} xref: SCTID:7916009 {source="DOID:14183", source="MONDO:equivalentTo"} xref: UMLS:C0085677 {source="DOID:14183", source="MONDO:equivalentTo", source="NCIT:C26926"} is_a: EFO:0009562 ! polyneuropathy property_value: exactMatch DOID:14183 property_value: exactMatch http://identifiers.org/mesh/D020269 property_value: exactMatch http://identifiers.org/snomedct/7916009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085677 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G62.1 property_value: exactMatch NCIT:C26926 property_value: excluded_subClassOf MONDO:0002336 {source="DOID:14183"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000804 name: anal gland neoplasm def: "Tumors or cancer of the anal gland." [] synonym: "Anal Gland Neoplasms" EXACT [] xref: DOID:4550 xref: MeSH:D000694 is_a: EFO:0003835 ! anal neoplasm property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000805 name: angioid streaks def: "Small breaks in the elastin-filled tissue of the retina." [MESH:D000793] synonym: "Angioid Streaks" EXACT [] synonym: "angioid streaks" EXACT [] {comment="preferred label from MONDO"} synonym: "angioid streaks" EXACT [OMIM:607140] synonym: "Angioid streaks of choroid" EXACT [] xref: DOID:13401 {source="EFO:1000805", source="MONDO:equivalentTo"} xref: MedDRA:10066191 {source="EFO:1000805"} xref: MESH:D000793 {source="EFO:1000805", source="MONDO:equivalentTo", source="DOID:13401"} xref: MeSH:D000793 xref: MONDO:0011782 xref: OMIM:607140 {source="MONDO:equivalentTo", source="DOID:13401"} xref: SNOMEDCT:86103006 xref: UMLS:C0002982 {source="MONDO:equivalentTo", source="OMIM:607140", source="MONDO:ncbi_mim2gene_medline", source="DOID:13401"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: EFO:0003839 {source="DOID:13401", source="MESH:D000793"} ! retinopathy property_value: closeMatch http://identifiers.org/meddra/10066191 property_value: exactMatch DOID:13401 property_value: exactMatch http://identifiers.org/mesh/D000793 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002982 property_value: exactMatch https://omim.org/entry/607140 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1000806 name: angiomyoma def: "A benign tumor consisting of vascular and smooth muscle elements." [] synonym: "Angiomyoma" EXACT [] synonym: "Angiomyoma (morphologic abnormality)" EXACT [] synonym: "vascular leiomyoma" EXACT [] xref: DOID:4265 xref: MeSH:D018229 xref: NCIt:C3747 xref: SNOMEDCT:86959002 is_a: EFO:0000616 ! neoplasm property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000807 name: anterior cerebral artery infarction def: "NECROSIS occurring in the ANTERIOR CEREBRAL ARTERY system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the CEREBRAL HEMISPHERE, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body." [] def: "Necrosis occurring in the anterior cerebral artery system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the cerebral hemisphere, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body." [MESH:D020243] synonym: "anterior cerebral artery infarction" EXACT [] {comment="preferred label from MONDO"} synonym: "Infarction, Anterior Cerebral Artery" EXACT [] xref: DOID:3528 {source="EFO:1000807", source="MONDO:equivalentTo"} xref: MESH:D020243 {source="EFO:1000807", source="MONDO:equivalentTo", source="DOID:3528"} xref: MeSH:D020243 xref: MONDO:0006647 xref: UMLS:C0751843 {source="MONDO:equivalentTo", source="DOID:3528"} is_a: MONDO:0002679 {source="DOID:3528", source="MESH:D020243"} ! cerebral infarction property_value: exactMatch DOID:3528 property_value: exactMatch http://identifiers.org/mesh/D020243 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751843 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000808 name: anterior compartment syndrome def: "Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive PHYSICAL EXERTION." [] def: "Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive physical exertion." [MESH:D000868] synonym: "anterior compartment of tibia syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Anterior Compartment Syndrome" EXACT [] synonym: "Anterior compartment syndrome" EXACT [] synonym: "anterior compartment syndrome" EXACT [DOID:3933] xref: DOID:3933 {source="EFO:1000808", source="MONDO:equivalentTo"} xref: MESH:D000868 {source="EFO:1000808", source="MONDO:equivalentTo", source="DOID:3933"} xref: MeSH:D000868 xref: MONDO:0006648 xref: NCIt:C118422 xref: SCTID:12694001 {source="EFO:1000808", source="MONDO:equivalentTo", source="DOID:3933"} xref: SNOMEDCT:12694001 xref: UMLS:C0003152 {source="MONDO:equivalentTo", source="DOID:3933"} is_a: EFO:0002970 ! muscular disease is_a: MONDO:0004001 {source="DOID:3933", source="MESH:D000868"} ! compartment syndrome is_a: MONDO:0020120 {source="EFO:1000808", source="MESH:D000868/inferred"} ! skeletal muscle disorder property_value: exactMatch DOID:3933 property_value: exactMatch http://identifiers.org/mesh/D000868 property_value: exactMatch http://identifiers.org/snomedct/12694001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003152 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000809 name: anterior ischemic optic neuropathy def: "Anterior ischemic optic neuropathy (AION) is an eye disease characterized by infarction of the optic disk leading to vision loss. It can be nonarteritic (nonarteritic anterior ischemic optic neuropathy or NAION) or arteritic, the latter being associated with giant cell arteritis (GCA; often termed temporal arteritis). Vision loss with both varieties is typically rapid (over minutes, hours, or days) and painless. Symptoms such as a general feeling of being unwell (malaise), muscle aches and pains, headaches over the temple, pain when combing hair, pain in the jaw after chewing, and tenderness over the temporal artery (one of the major arteries of the head) may be present with giant cell arteritis. At exam, visual acuity is reduced and the optic disk is swollen. In both subtypes, visual field examination is often reduced in the inferior and central visual fields. The visual loss is usually permanent, with some recovery possibly occurring within the first weeks or months. The arteritic variety is treated with corticosteroids. Treatment of the nonarteritic variety withaspirinor corticosteroids has not been helpful." [https://rarediseases.info.nih.gov/diseases/9790/anterior-ischemic-optic-neuropathy] def: "Ischemic injury to the OPTIC NERVE which usually affects the OPTIC DISK (optic neuropathy, anterior ischemic) and less frequently the retrobulbar portion of the nerve (optic neuropathy, posterior ischemic). The injury results from occlusion of arterial blood supply which may result from TEMPORAL ARTERITIS; ATHEROSCLEROSIS; COLLAGEN DISEASES; EMBOLISM; DIABETES MELLITUS; and other conditions. The disease primarily occurs in the sixth decade or later and presents with the sudden onset of painless and usually severe monocular visual loss. Anterior ischemic optic neuropathy also features optic disk edema with microhemorrhages. The optic disk appears normal in posterior ischemic optic neuropathy. (Glaser, Neuro-Ophthalmology, 2nd ed, p135)" [] subset: gard_rare {source="GARD:0009790"} synonym: "aion" RELATED [GARD:0009790] synonym: "anterior ischemic optic neuropathy" EXACT [] {comment="preferred label from MONDO"} synonym: "ischaemic optic neuropathy" EXACT OMO:0003005 [] synonym: "Ischemic optic neuropathy" EXACT [] synonym: "ischemic optic neuropathy" EXACT [DOID:12010, ICD9CM:377.41] synonym: "optic disc infarction leading to vision loss" RELATED OMO:0003005 [] synonym: "optic disk infarction leading to vision loss" RELATED [] synonym: "Optic Neuropathy, Ischemic" EXACT [] xref: DOID:12010 {source="EFO:1000809", source="MONDO:equivalentTo"} xref: ICD9:377.41 {source="DOID:12010"} xref: MedDRA:10068250 {source="EFO:1000809"} xref: MESH:D018917 {source="EFO:1000809", source="MONDO:equivalentTo", source="DOID:12010"} xref: MeSH:D018917 xref: MONDO:0006649 xref: SCTID:404659001 {source="EFO:1000809", source="MONDO:equivalentTo"} xref: SNOMEDCT:404659001 xref: UMLS:C0155305 {source="MONDO:equivalentTo", source="DOID:12010"} is_a: EFO:0004149 ! neuropathy is_a: MONDO:0002135 {source="DOID:12010", source="MESH:D018917"} ! optic nerve disorder property_value: closeMatch http://identifiers.org/meddra/10068250 property_value: exactMatch DOID:12010 property_value: exactMatch http://identifiers.org/mesh/D018917 property_value: exactMatch http://identifiers.org/snomedct/404659001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155305 property_value: IAO:0000117 "Dani Welter" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9790/anterior-ischemic-optic-neuropathy xsd:anyURI {source="GARD:0009790"} [Term] id: EFO:1000810 name: anterior spinal artery syndrome def: "Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with ATHEROSCLEROSIS of the aorta and may result from dissection of an AORTIC ANEURYSM or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50)" [] def: "Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with atherosclerosis of the aorta and may result from dissection of an aortic aneurysm or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50)" [MESH:D020759] synonym: "Anterior spinal artery occlusion syndrome (disorder)" EXACT [] synonym: "Anterior Spinal Artery Syndrome" EXACT [] synonym: "anterior spinal artery syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "anterior spinal artery syndromic disease" EXACT [MONDO:patterns/location] synonym: "syndromic disease of anterior spinal artery" EXACT [] xref: DOID:6712 {source="MONDO:equivalentTo", source="EFO:1000810"} xref: ICD9:433.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10002703 {source="EFO:1000810"} xref: MESH:D020759 {source="DOID:6712", source="MONDO:equivalentTo", source="EFO:1000810"} xref: MeSH:D020759 xref: MONDO:0006650 xref: SCTID:2972007 {source="DOID:6712", source="MONDO:equivalentTo"} xref: SNOMEDCT:14363008 xref: UMLS:C0221069 {source="DOID:6712", source="MONDO:equivalentTo"} is_a: EFO:0003763 ! cerebrovascular disorder is_a: MONDO:0000473 ! arterial disorder is_a: MONDO:0002254 ! syndromic disease property_value: closeMatch http://identifiers.org/meddra/10002703 property_value: exactMatch DOID:6712 property_value: exactMatch http://identifiers.org/mesh/D020759 property_value: exactMatch http://identifiers.org/snomedct/2972007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221069 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000811 name: anterior uveitis def: "Inflammation of the anterior uvea comprising the iris, angle structures, and the ciliary body. Manifestations of this disorder include ciliary injection, exudation into the anterior chamber, iris changes, and adhesions between the iris and lens (posterior synechiae). Intraocular pressure may be increased or reduced." [] def: "Inflammation of the iris and anterior chamber of the eye." [NCIT:C35109] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:280886"} synonym: "anterior uveitis" EXACT [MONDO:0017253, MONDO:ambiguous, NCIT:C35109] synonym: "anterior uveitis" EXACT [] {comment="preferred label from MONDO"} synonym: "anterior uveitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Anterior uveitis [Ambiguous]" EXACT [] synonym: "Anterior uveitis, NOS" EXACT [] synonym: "iridocyclitis" NARROW [Orphanet:280886] synonym: "Uveitis, Anterior" EXACT [] xref: CSP:1114-9593 {source="DOID:1407"} xref: DOID:1407 {source="MONDO:equivalentTo", source="EFO:1000811"} xref: HP:0012122 {source="MONDO:otherHierarchy"} xref: MedDRA:10002709 {source="Orphanet:280886/e", source="EFO:1000811", source="Orphanet:280886"} xref: MESH:D014606 {source="MONDO:equivalentTo", source="DOID:1407", source="EFO:1000811"} xref: MeSH:D014606 xref: MONDO:0006651 xref: NCIT:C35109 {source="MONDO:equivalentTo", source="DOID:1407", source="EFO:1000811", source="NCIT:C35109"} xref: NCIt:C35109 xref: Orphanet:280886 {source="MONDO:equivalentTo"} xref: SCTID:410692006 {source="MONDO:equivalentTo", source="DOID:1407", source="EFO:1000811"} xref: SNOMEDCT:410692006 xref: UMLS:C0042165 {source="Orphanet:280886/e", source="MONDO:equivalentTo", source="DOID:1407", source="NCIT:C35109", source="Orphanet:280886"} is_a: EFO:1001231 {source="DOID:1407/inferred", source="NCIT:C35109", source="Orphanet:280886"} ! uveitis property_value: closeMatch http://identifiers.org/meddra/10002709 property_value: exactMatch DOID:1407 property_value: exactMatch http://identifiers.org/mesh/D014606 property_value: exactMatch http://identifiers.org/snomedct/410692006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042165 property_value: exactMatch NCIT:C35109 property_value: exactMatch Orphanet:280886 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000589 "anterior uveitis (disease)" xsd:string [Term] id: EFO:1000812 name: anterolateral myocardial infarction def: "MYOCARDIAL INFARCTION in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction." [] def: "Myocardial infarction in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction." [MESH:D056988] comment: Editor note: todo - create uberon class synonym: "acute anterior wall myocardial infarction" RELATED [MESH:D056988] synonym: "Anterior Wall Myocardial Infarction" EXACT [] synonym: "anterolateral myocardial infarction" EXACT [MESH:D056988] synonym: "anterolateral myocardial infarction" EXACT [] {comment="preferred label from MONDO"} synonym: "anterolateral myocardial infarctions" RELATED [MESH:D056988] synonym: "anteroseptal myocardial infarction" RELATED [MESH:D056988] synonym: "anteroseptal myocardial infarctions" RELATED [MESH:D056988] synonym: "infarction, anterolateral myocardial" RELATED [MESH:D056988] synonym: "infarction, anteroseptal myocardial" RELATED [MESH:D056988] synonym: "infarctions, anterolateral myocardial" RELATED [MESH:D056988] synonym: "infarctions, anteroseptal myocardial" RELATED [MESH:D056988] synonym: "myocardial infarction, anterior wall" RELATED [MESH:D056988] synonym: "myocardial infarction, anterolateral" RELATED [MESH:D056988] synonym: "myocardial infarction, anteroseptal" RELATED [MESH:D056988] synonym: "myocardial infarctions, anterolateral" RELATED [MESH:D056988] synonym: "myocardial infarctions, anteroseptal" RELATED [MESH:D056988] xref: DOID:5845 {source="MONDO:equivalentTo", source="EFO:1000812"} xref: MedDRA:10068109 {source="EFO:1000812"} xref: MESH:D056988 {source="DOID:5845", source="MONDO:equivalentTo", source="EFO:1000812"} xref: MeSH:D056988 xref: MONDO:0006652 xref: UMLS:C0262564 {source="DOID:5845", source="MONDO:equivalentTo"} is_a: EFO:0000612 {source="DOID:5845", source="EFO:1000812", source="MESH:D056988"} ! myocardial infarction property_value: closeMatch http://identifiers.org/meddra/10068109 property_value: exactMatch DOID:5845 property_value: exactMatch http://identifiers.org/mesh/D056988 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0262564 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000813 name: anthracosilicosis def: "A form of pneumoconiosis caused by inhalation of dust that contains both CARBON and crystalline SILICON DIOXIDE. These foreign matters induce fibrous nodule formation in the lung." [] def: "Fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath." [NCIT:P378] synonym: "Anthracosilicosis" EXACT [] synonym: "anthracosilicosis" EXACT [] {comment="preferred label from MONDO"} xref: CSP:2596-4484 {source="DOID:10324"} xref: DOID:10324 {source="MONDO:equivalentTo", source="EFO:1000813"} xref: MedDRA:10050363 {source="EFO:1000813"} xref: MESH:D000874 {source="DOID:10324", source="MONDO:equivalentTo", source="EFO:1000813"} xref: MeSH:D000874 xref: MONDO:0006653 xref: NCIT:C34389 {source="DOID:10324", source="MONDO:equivalentTo", source="EFO:1000813"} xref: NCIt:C34389 xref: SCTID:33548005 {source="DOID:10324", source="MONDO:equivalentTo", source="EFO:1000813"} xref: SNOMEDCT:33548005 xref: UMLS:C0003164 {source="DOID:10324", source="MONDO:equivalentTo", source="NCIT:C34389"} is_a: MONDO:0015926 {source="DOID:10324", source="EFO:1000813", source="MESH:D000874/inferred", source="NCIT:C34389"} ! pneumoconiosis property_value: closeMatch http://identifiers.org/meddra/10050363 property_value: exactMatch DOID:10324 property_value: exactMatch http://identifiers.org/mesh/D000874 property_value: exactMatch http://identifiers.org/snomedct/33548005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003164 property_value: exactMatch NCIT:C34389 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000814 name: anthracosis def: "A chronic lung disorder characterized by deposition of coal dust in the lung parenchyma leading to the formation of black nodules and emphysema. It occurs in coal miners." [NCIT:P378] def: "A diffuse parenchymal lung disease caused by accumulation of inhaled CARBON or coal dust. The disease can progress from asymptomatic anthracosis to massive lung fibrosis. This lung lesion usually occurs in coal MINERS, but can be seen in urban dwellers and tobacco smokers." [] synonym: "Anthracosis" EXACT [] synonym: "anthracosis" EXACT [] {comment="preferred label from MONDO"} synonym: "black lung" EXACT [DOID:10327] synonym: "coal dust pneumoconiosis" EXACT [MONDO:patterns/environmental_stimulus] synonym: "Coal Miner's Pneumoconiosis" EXACT [] synonym: "coal miner's pneumoconiosis" EXACT [DOID:10327, NCIT:C34390] synonym: "Coal workers' lung" EXACT [] synonym: "coal workers' lung" EXACT [DOID:10327] synonym: "Coal workers' pneumoconiosis" EXACT [] synonym: "coal workers' pneumoconiosis" EXACT [DOID:10327, ICD9CM:500] synonym: "Melanoedema" EXACT [] synonym: "melanoedema" EXACT [DOID:10327] synonym: "pneumoconiosis from coal dust" EXACT [] xref: DOID:10327 {source="MONDO:equivalentTo", source="EFO:1000814"} xref: ICD10:J60 xref: ICD9:500 {source="DOID:10327", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10073051 {source="EFO:1000814"} xref: MESH:D055008 {source="DOID:10327", source="MONDO:equivalentTo", source="EFO:1000814"} xref: MeSH:D055008 xref: MONDO:0006654 xref: NCIT:C34390 {source="DOID:10327", source="MONDO:equivalentTo", source="EFO:1000814"} xref: NCIt:C34390 xref: SCTID:29422001 {source="DOID:10327", source="MONDO:equivalentTo", source="EFO:1000814"} xref: SNOMEDCT:29422001 xref: UMLS:C0003165 {source="DOID:10327", source="MONDO:equivalentTo", source="NCIT:C34390"} is_a: MONDO:0015926 {source="DOID:10327", source="EFO:1000814", source="MESH:D055008", source="MONDO:Redundant", source="NCIT:C34390"} ! pneumoconiosis property_value: closeMatch http://identifiers.org/meddra/10073051 property_value: exactMatch DOID:10327 property_value: exactMatch http://identifiers.org/mesh/D055008 property_value: exactMatch http://identifiers.org/snomedct/29422001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003165 property_value: exactMatch NCIT:C34390 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000815 name: aortic valve prolapse def: "The downward displacement of the cuspal or pointed end of the trileaflet AORTIC VALVE causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ASCENDING AORTA back into the LEFT VENTRICLE, leading to aortic regurgitation." [] def: "The downward displacement of the cuspal or pointed end of the trileaflet aortic valve causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ascending aorta back into the left ventricle, leading to aortic regurgitation." [MESH:D001023] synonym: "Aortic Valve Prolapse" EXACT [] synonym: "aortic valve prolapse" EXACT [] {comment="preferred label from MONDO"} xref: DOID:5232 {source="EFO:1000815", source="MONDO:equivalentTo"} xref: MedDRA:10057454 {source="EFO:1000815"} xref: MESH:D001023 {source="EFO:1000815", source="MONDO:equivalentTo", source="DOID:5232"} xref: MeSH:D001023 xref: MONDO:0006655 xref: UMLS:C0003505 {source="MONDO:equivalentTo", source="DOID:5232"} is_a: EFO:0009531 {source="DOID:5232"} ! aortic valve disease property_value: closeMatch http://identifiers.org/meddra/10057454 property_value: exactMatch DOID:5232 property_value: exactMatch http://identifiers.org/mesh/D001023 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003505 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000816 name: aortitis def: "Inflammation of the aorta. Causes include trauma, infectious disorders, and connective tissue disorders." [NCIT:P378] def: "Inflammation of the wall of the AORTA." [] synonym: "aorta inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "Aortitis" EXACT [] synonym: "aortitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Aortitis (disorder)" EXACT [] synonym: "Aortitis NOS" EXACT [] synonym: "inflammation of aorta" EXACT [] xref: DOID:519 {source="EFO:1000816", source="MONDO:equivalentTo"} xref: MedDRA:10002921 {source="EFO:1000816"} xref: MESH:D001025 {source="EFO:1000816", source="MONDO:equivalentTo", source="DOID:519"} xref: MeSH:D001025 xref: MONDO:0006656 xref: NCIT:C97085 {source="EFO:1000816", source="MONDO:equivalentTo", source="DOID:519"} xref: NCIt:C97085 xref: SCTID:70933002 {source="EFO:1000816", source="MONDO:equivalentTo", source="DOID:519"} xref: SNOMEDCT:70933002 xref: UMLS:C0003509 {source="NCIT:C97085", source="MONDO:equivalentTo", source="DOID:519"} is_a: EFO:0005775 {source="DOID:519", source="EFO:1000816", source="MESH:D001025", source="MONDO:Redundant"} ! aortic disease is_a: EFO:0006803 ! vasculitis relationship: RO:0000056 GO:0006954 ! participates_in inflammatory response property_value: closeMatch http://identifiers.org/meddra/10002921 property_value: exactMatch DOID:519 property_value: exactMatch http://identifiers.org/mesh/D001025 property_value: exactMatch http://identifiers.org/snomedct/70933002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003509 property_value: exactMatch NCIT:C97085 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000817 name: apparent mineralocorticoid excess syndrome def: "A hereditary disease characterized by childhood onset HYPERTENSION, hypokalemic alkalosis, and low RENIN and ALDOSTERONE secretion. It results from a defect in the activity of the 11-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 2 enzyme which results in inadequate conversion of CORTISOL to CORTISONE. The build up of unprocessed cortisol to levels that stimulate MINERALOCORTICOID RECEPTORS creates the appearance of having excessive MINERALOCORTICOIDS." [] synonym: "Mineralocorticoid Excess Syndrome, Apparent" EXACT [] synonym: "syndrome of apparent mineralocorticoid excess (disorder)" EXACT [] xref: DOID:4367 xref: MeSH:D043204 xref: SNOMEDCT:237770005 is_a: EFO:0000508 ! genetic disorder property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000818 name: arcus senilis def: "A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera." [MESH:D001112] synonym: "arcus corneae" RELATED [OMIM:107800] synonym: "arcus of cornea" EXACT [DOID:11342] synonym: "Arcus of cornea (disorder)" EXACT [] synonym: "Arcus Senilis" EXACT [] synonym: "arcus senilis" EXACT [OMIM:107800] synonym: "arcus senilis" EXACT [] {comment="preferred label from MONDO"} synonym: "corneal arcus" EXACT [DOID:11342, OMIM:107800] xref: DOID:11342 {source="EFO:1000818", source="MONDO:equivalentTo"} xref: MedDRA:10003082 {source="EFO:1000818"} xref: MESH:D001112 {source="EFO:1000818", source="MONDO:equivalentTo", source="DOID:11342"} xref: MeSH:D001112 xref: MONDO:0007150 xref: OMIM:107800 {source="MONDO:equivalentTo", source="DOID:11342"} xref: SCTID:231924000 {source="MONDO:equivalentTo", source="DOID:11342"} xref: SNOMEDCT:111522004 xref: UMLS:C0003742 {source="MONDO:equivalentTo", source="OMIM:107800", source="MONDO:ncbi_mim2gene_medline", source="DOID:11342"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: MONDO:0001515 {source="DOID:11342"} ! corneal degeneration property_value: closeMatch http://identifiers.org/meddra/10003082 property_value: exactMatch DOID:11342 property_value: exactMatch http://identifiers.org/mesh/D001112 property_value: exactMatch http://identifiers.org/snomedct/231924000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003742 property_value: exactMatch https://omim.org/entry/107800 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000819 name: arteriolosclerosis def: "The thickening of the wall of the small arteries and arterioles. It is caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy. It results in lumen narrowing and tissue ischemia." [NCIT:P378] def: "The thickening of the wall of the small arteries and arterioles. It is caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy. It results in lumen narrowing and tissue ischemia. [ NCI ]" [] synonym: "Arteriolosclerosis" EXACT [] synonym: "arteriolosclerosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Arteriolosclerosis (morphologic abnormality)" EXACT [] synonym: "arteriolosclerosis (morphologic abnormality)" EXACT [DOID:5162] xref: DOID:5162 {source="EFO:1000819", source="MONDO:equivalentTo"} xref: ICD10CM:I70 {source="DOID:5162", source="MONDO:directSiblingOf"} xref: MESH:D050379 {source="EFO:1000819", source="MONDO:equivalentTo", source="DOID:5162"} xref: MeSH:D050379 xref: MONDO:0006658 xref: NCIT:C35543 {source="EFO:1000819", source="MONDO:equivalentTo", source="DOID:5162"} xref: NCIt:C35543 xref: SNOMEDCT:17941002 xref: UMLS:C0878486 {source="MONDO:equivalentTo", source="NCIT:C35543", source="DOID:5162"} is_a: MONDO:0021661 ! coronary atherosclerosis property_value: exactMatch DOID:5162 property_value: exactMatch http://identifiers.org/mesh/D050379 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0878486 property_value: exactMatch NCIT:C35543 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000820 name: arteriosclerosis obliterans def: "Common occlusive arterial disease which is caused by ATHEROSCLEROSIS. It is characterized by lesions in the innermost layer (ARTERIAL INTIMA) of arteries including the AORTA and its branches to the extremities. Risk factors include smoking, HYPERLIPIDEMIA, and HYPERTENSION." [] def: "Common occlusive arterial disease which is caused by atherosclerosis. It is characterized by lesions in the innermost layer (arterial intima) of arteries including the aorta and its branches to the extremities. Risk factors include smoking, hyperlipidemia, and hypertension." [MESH:D001162] synonym: "Arteriosclerosis Obliterans" EXACT [] synonym: "arteriosclerosis obliterans" EXACT [] {comment="preferred label from MONDO"} synonym: "Arteriosclerosis obliterans (disorder)" EXACT [] synonym: "Arteriosclerosis obliterans (disorder) [Ambiguous]" EXACT [] synonym: "arteriosclerosis obliterans (disorder) [ambiguous]" EXACT [DOID:5160] xref: DOID:5160 {source="MONDO:equivalentTo", source="EFO:1000820"} xref: ICD9:440.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10065418 {source="EFO:1000820"} xref: MESH:D001162 {source="MONDO:equivalentTo", source="DOID:5160", source="EFO:1000820"} xref: MeSH:D001162 xref: MONDO:0006659 xref: SCTID:361133006 {source="MONDO:equivalentTo", source="DOID:5160", source="EFO:1000820"} xref: SNOMEDCT:361133006 xref: UMLS:C0003851 {source="MONDO:equivalentTo", source="DOID:5160"} is_a: MONDO:0021661 ! coronary atherosclerosis property_value: closeMatch http://identifiers.org/meddra/10065418 property_value: exactMatch DOID:5160 property_value: exactMatch http://identifiers.org/mesh/D001162 property_value: exactMatch http://identifiers.org/snomedct/361133006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003851 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000821 name: arthus reaction def: "A dermal inflammatory reaction produced under conditions of antibody excess, when a second injection of antigen produces intravascular antigen-antibody complexes which bind complement, causing cell clumping, endothelial damage, and vascular necrosis." [] def: "A localized vasculitis resulting from deposition of antibody-antigen complexes." [NCIT:C34400] comment: Editor note: DO classifies as type III, NCIT as type I synonym: "Arthus Phenomenon" EXACT [] synonym: "Arthus phenomenon" EXACT [] synonym: "arthus phenomenon" EXACT [DOID:1556, NCIT:C34400] synonym: "Arthus Reaction" EXACT [] synonym: "arthus reaction" EXACT [] {comment="preferred label from MONDO"} synonym: "arthus reaction" EXACT [NCIT:C34400] synonym: "Arthus reaction (function)" EXACT [] synonym: "arthus reaction (function)" EXACT [DOID:1556] synonym: "Arthus type urticaria" EXACT [] synonym: "arthus type urticaria" EXACT [DOID:1556] xref: DOID:1556 {source="MONDO:equivalentTo", source="EFO:1000821"} xref: ICD9:708.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:995.21 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1556"} xref: MedDRA:10003420 {source="EFO:1000821"} xref: MESH:D001183 {source="MONDO:equivalentTo", source="DOID:1556", source="EFO:1000821"} xref: MeSH:D001183 xref: MONDO:0006660 xref: NCIT:C34400 {source="MONDO:equivalentTo", source="DOID:1556", source="EFO:1000821"} xref: NCIt:C34400 xref: SCTID:402413008 {source="MONDO:equivalentTo", source="DOID:1556"} xref: SNOMEDCT:29548007 xref: UMLS:C0003907 {source="MONDO:equivalentTo", source="NCIT:C34400", source="DOID:1556"} is_a: EFO:1001222 {source="DOID:1556", source="EFO:1000821", source="MESH:D001183"} ! type III hypersensitivity reaction disease property_value: closeMatch http://identifiers.org/meddra/10003420 property_value: exactMatch DOID:1556 property_value: exactMatch http://identifiers.org/mesh/D001183 property_value: exactMatch http://identifiers.org/snomedct/402413008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003907 property_value: exactMatch NCIT:C34400 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000822 name: ascorbic acid deficiency def: "A condition due to a dietary deficiency of ascorbic acid (vitamin C), characterized by malaise, lethargy, and weakness. As the disease progresses, joints, muscles, and subcutaneous tissues may become the sites of hemorrhage. Ascorbic acid deficiency frequently develops into SCURVY in young children fed unsupplemented cow's milk exclusively during their first year. It develops also commonly in chronic alcoholism. (Cecil Textbook of Medicine, 19th ed, p1177)" [] synonym: "Ascorbic acid (vitamin C) deficiency" EXACT [] synonym: "Ascorbic acid defic." EXACT [] synonym: "Ascorbic Acid Deficiency" EXACT [] synonym: "Ascorbic acid deficiency" EXACT [] synonym: "Ascorbic acid deficiency (disorder)" EXACT [] synonym: "deficiency of ascorbic acid (disorder)" EXACT [] synonym: "deficiency of vitamin C" EXACT [] synonym: "vitamin C deficiency" EXACT [] xref: DOID:13577 xref: ICD10:E54 xref: MedDRA:10003454 xref: MedDRA:10047623 xref: MeSH:D001206 xref: SNOMEDCT:76169001 is_a: EFO:1001067 ! nutritional deficiency disease property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1000823 name: aseptic meningitis def: "A syndrome characterized by headache, neck stiffness, low grade fever, and CSF lymphocytic pleocytosis in the absence of an acute bacterial pathogen. Viral meningitis is the most frequent cause although MYCOPLASMA INFECTIONS; RICKETTSIA INFECTIONS; diagnostic or therapeutic procedures; NEOPLASTIC PROCESSES; septic perimeningeal foci; and other conditions may result in this syndrome. (From Adams et al., Principles of Neurology, 6th ed, p745)" [] def: "Inflammation of the membranes surrounding the brain and spinal cord without a bacterial pathogen." [NCIT:P378] synonym: "acute aseptic meningitis" EXACT [DOID:12157] synonym: "Aseptic meningitis" EXACT [] synonym: "aseptic meningitis" EXACT [] {comment="preferred label from MONDO"} synonym: "aseptic meningitis" EXACT [DOID:12157] synonym: "Aseptic meningitis (disorder)" EXACT [] synonym: "Meningitis, Aseptic" EXACT [] xref: DOID:12157 {source="MONDO:equivalentTo", source="EFO:1000823"} xref: MedDRA:10003458 {source="EFO:1000823"} xref: MESH:D008582 {source="MONDO:equivalentTo", source="DOID:12157", source="EFO:1000823"} xref: MeSH:D008582 xref: MONDO:0006662 xref: NCIT:C118299 {source="MONDO:equivalentTo", source="DOID:12157", source="EFO:1000823"} xref: NCIt:C118299 xref: SCTID:301770000 {source="MONDO:equivalentTo", source="DOID:12157", source="EFO:1000823"} xref: SNOMEDCT:301770000 xref: UMLS:C0025290 {source="NCIT:C118299", source="MONDO:equivalentTo", source="DOID:12157"} is_a: MONDO:0021108 {source="MONDO:Redundant", source="NCIT:C118299"} ! meningitis disjoint_from: EFO:1000831 ! bacterial meningitis property_value: closeMatch http://identifiers.org/meddra/10003458 property_value: exactMatch DOID:12157 property_value: exactMatch http://identifiers.org/mesh/D008582 property_value: exactMatch http://identifiers.org/snomedct/301770000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025290 property_value: exactMatch NCIT:C118299 property_value: excluded_subClassOf MONDO:0007015 {source="DOID:12157"} property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1000824 name: asphyxia neonatorum def: "A disorder caused by a lack of blood flow or gas exchange to or from the fetus in the period immediately before, during, or after the birth process." [https://www.ncbi.nlm.nih.gov/books/NBK430782/] def: "Respiratory failure in the newborn. (Dorland, 27th ed)" [] comment: Pathophysiology: There are three stages to brain injury in hypoxic-ischemic encephalopathy. First, there is an immediate primary neuronal injury that occurs due to interruption of oxygen and glucose to the brain. This decreases ATP and results in failure of the ATP-dependent NaK pump. Sodium enters the cell followed by water, causing cell swelling, widespread depolarization, and cell death. Cell death and lysis cause release of glutamate, an excitatory amino acid, which causes an increase in intracellular calcium and further cell death. Following the immediate injury is a latent period of about six hours, during which reperfusion occurs, and some cells recover. Late secondary neuronal injury occurs over the next 24-48 hours as reperfusion results in blood flow to and from damaged areas, spreading toxic neurotransmitters and widening the area of brain affected.[NBK430782] subset: gard_rare {source="GARD:0005857"} synonym: "Asphyxia - birth" EXACT [] synonym: "asphyxia - birth" EXACT [DOID:11088] synonym: "Asphyxia Neonatorum" EXACT [] synonym: "asphyxia neonatorum" EXACT [MESH:D001238] synonym: "Asphyxia NOS in liveborn infant" EXACT [] synonym: "asphyxia, in liveborn infant" EXACT [DOID:11088] synonym: "Asphyxia, in liveborn infant (disorder)" EXACT [] synonym: "birth asphyxia" EXACT [DOID:11088] synonym: "Birth asphyxia (disorder)" EXACT [] synonym: "birth depression" EXACT [NCIT:C116313] synonym: "fetal asphyxia" EXACT [NCIT:C116313] synonym: "foetal asphyxia" EXACT OMO:0003005 [] synonym: "HIE" EXACT [Orphanet:137577] synonym: "hypoxia neonatorum" EXACT [GARD:0005857] synonym: "hypoxic and ischaemic brain injury in the newborn" RELATED OMO:0003005 [] synonym: "hypoxic and ischemic brain injury in the newborn" RELATED [Orphanet:137577] synonym: "hypoxic-ischemic encephalopathy" EXACT [Orphanet:137577] synonym: "intrapartum asphyxia" EXACT [NCIT:C116313] synonym: "Liveborn with birth asphyxia NOS" EXACT [] synonym: "Liveborn with birth asphyxia NOS (disorder)" EXACT [] synonym: "neonatal hypoxic and ischaemic brain injury" RELATED OMO:0003005 [] synonym: "neonatal hypoxic and ischemic brain injury" RELATED [Orphanet:137577] synonym: "perinatal asphyxia" EXACT [] {comment="preferred label from MONDO"} synonym: "perinatal asphyxia" EXACT [NCIT:C116313] synonym: "perinatal depression" EXACT [NCIT:C116313] synonym: "perinatal hypoxia" EXACT [Orphanet:137577] synonym: "postnatal asphyxia" EXACT [DOID:11088] synonym: "Unspecified severity of birth asphyxia in liveborn infant" EXACT [] xref: DOID:11088 {source="MONDO:equivalentTo", source="EFO:1000824"} xref: ICD9:768.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11088"} xref: MESH:D001238 {source="MONDO:equivalentTo", source="DOID:11088", source="EFO:1000824"} xref: MeSH:D001238 xref: MONDO:0006663 xref: NCIT:C116313 {source="MONDO:equivalentTo"} xref: Orphanet:137577 {source="MONDO:equivalentTo"} xref: SCTID:28314004 {source="MONDO:equivalentTo", source="DOID:11088", source="EFO:1000824"} xref: SNOMEDCT:28314004 xref: UMLS:C0004045 {source="MONDO:equivalentTo", source="DOID:11088"} is_a: EFO:0000684 {source="DOID:11088", source="EFO:1000824"} ! respiratory system disease is_a: EFO:0010238 ! perinatal disease property_value: exactMatch DOID:11088 property_value: exactMatch http://identifiers.org/mesh/D001238 property_value: exactMatch http://identifiers.org/snomedct/28314004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004045 property_value: exactMatch NCIT:C116313 property_value: exactMatch Orphanet:137577 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5857/asphyxia-neonatorum xsd:anyURI {source="GARD:0005857"} [Term] id: EFO:1000825 name: atrial heart septal defect def: "Developmental abnormalities in any portion of the ATRIAL SEPTUM resulting in abnormal communications between the two upper chambers of the heart. Classification of atrial septal defects is based on location of the communication and types of incomplete fusion of atrial septa with the ENDOCARDIAL CUSHIONS in the fetal heart. They include ostium primum, ostium secundum, sinus venosus, and coronary sinus defects." [] def: "Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart." [Orphanet:1478] subset: ordo_morphological_anomaly {source="Orphanet:1478"} synonym: "ASD" EXACT ABBREVIATION [Orphanet:1478] synonym: "atrial septal defect" EXACT [] {comment="preferred label from MONDO"} synonym: "atrial septal defect" EXACT [DOID:1882, Orphanet:1478] synonym: "atrial septum defect" EXACT [NCIT:C84473] synonym: "atrioseptal defect" EXACT [DOID:1882] synonym: "auricular septal defect" EXACT [DOID:1882] synonym: "congenital atrial septal defect" EXACT [DOID:1882] synonym: "Heart Septal Defects, Atrial" EXACT [] synonym: "interatrial communication" RELATED [Orphanet:1478] synonym: "interatrial septal defect" EXACT [DOID:1882] synonym: "interauricular communication" EXACT [Orphanet:1478] synonym: "interauricular septal defect" EXACT [DOID:1882] xref: DOID:1882 {source="MONDO:equivalentTo", source="EFO:1000825"} xref: MedDRA:10003664 {source="Orphanet:1478", source="Orphanet:1478/e"} xref: MedDRA:10019308 {source="EFO:1000825"} xref: MedDRA:10068864 {source="Orphanet:1478", source="Orphanet:1478/e"} xref: MESH:D006344 {source="DOID:1882", source="MONDO:equivalentTo", source="Orphanet:1478", source="Orphanet:1478/e", source="EFO:1000825"} xref: MeSH:D006344 xref: MONDO:0006664 xref: NCIT:C84473 {source="DOID:1882", source="MONDO:equivalentTo", source="EFO:1000825"} xref: NCIt:C84473 xref: OMIMPS:108800 {source="DOID:1882", source="MONDO:equivalentTo"} xref: Orphanet:1478 {source="DOID:1882", source="MONDO:equivalentTo"} xref: SCTID:253366007 {source="DOID:1882", source="MONDO:equivalentTo"} xref: SNOMEDCT:405752007 xref: UMLS:C0018817 {source="DOID:1882", source="MONDO:equivalentTo", source="Orphanet:1478", source="NCIT:C84473", source="Orphanet:1478/e"} is_a: MONDO:0002078 {source="DOID:1882", source="MESH:D006344"} ! heart septal defect is_a: MONDO:0017131 {source="Orphanet:1478"} ! hereditary cardiac anomaly is_a: MONDO:0020294 {source="Orphanet:1478"} ! atrial defect and interatrial communication property_value: closeMatch http://identifiers.org/meddra/10003664 property_value: closeMatch http://identifiers.org/meddra/10019308 property_value: closeMatch http://identifiers.org/meddra/10068864 property_value: exactMatch DOID:1882 property_value: exactMatch http://identifiers.org/mesh/D006344 property_value: exactMatch http://identifiers.org/snomedct/253366007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018817 property_value: exactMatch https://omim.org/phenotypicSeries/PS108800 property_value: exactMatch NCIT:C84473 property_value: exactMatch Orphanet:1478 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000826 name: atrophic gastritis def: "Atrophic gastritis that is persistent and long-standing." [NCIT:P378] def: "GASTRITIS with atrophy of the GASTRIC MUCOSA, the GASTRIC PARIETAL CELLS, and the mucosal glands leading to ACHLORHYDRIA. Atrophic gastritis usually progresses from chronic gastritis." [] synonym: "atrophic Gastritides" EXACT [MESH:D005757] synonym: "atrophic gastritis" EXACT [MESH:D005757] synonym: "chronic atrophic gastritis" EXACT [] {comment="preferred label from MONDO"} synonym: "gastric atrophy" EXACT [DOID:8929, NCIT:C7405] synonym: "Gastritides, atrophic" EXACT [MESH:D005757] synonym: "Gastritis, Atrophic" EXACT [] xref: DOID:8929 {source="EFO:1000826", source="MONDO:equivalentTo"} xref: ICD10CM:K29.4 {source="MONDO:equivalentTo", source="DOID:8929"} xref: ICD9:535.1 {source="EFO:1000826", source="DOID:8929"} xref: ICD9:535.10 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:535.11 {source="DOID:8929"} xref: MedDRA:10003685 {source="EFO:1000826"} xref: MedDRA:10003686 xref: MedDRA:10003687 xref: MedDRA:10055763 xref: MedDRA:10055764 xref: MESH:D005757 {source="EFO:1000826", source="MONDO:equivalentTo", source="DOID:8929"} xref: MeSH:D005757 xref: MONDO:0006665 xref: NCIT:C7405 {source="MONDO:equivalentTo", source="DOID:8929"} xref: SCTID:84568007 {source="EFO:1000826", source="MONDO:equivalentTo", source="DOID:8929"} xref: SNOMEDCT:84568007 is_a: EFO:0000337 {source="NCIT:C7405"} ! chronic gastritis property_value: closeMatch http://identifiers.org/meddra/10003685 property_value: exactMatch DOID:8929 property_value: exactMatch http://identifiers.org/mesh/D005757 property_value: exactMatch http://identifiers.org/snomedct/84568007 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K29.4 property_value: exactMatch NCIT:C7405 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000827 name: atrophy of thyroid def: "Defective development of the THYROID GLAND. This concept includes thyroid agenesis (aplasia), hypoplasia, or an ectopic gland. Clinical signs usually are those of CONGENITAL HYPOTHYROIDISM." [] def: "Tissue degeneration and diminished size of the thyroid gland." [NCIT:C26942] synonym: "atrophy of thyroid" EXACT [] {comment="preferred label from MONDO"} synonym: "Hypoplasia of thyroid (disorder)" EXACT [] synonym: "Hypoplasia of thyroid (disorder) [Ambiguous]" EXACT [] synonym: "Thyroid Atrophy" EXACT [] synonym: "thyroid atrophy" EXACT [NCIT:C26942] synonym: "Thyroid atrophy (disorder)" EXACT [] synonym: "Thyroid Dysgenesis" EXACT [] synonym: "thyroid gland atrophy" EXACT [NCIT:C26942] xref: DOID:2853 xref: ICD10:E03.4 xref: ICD9:246.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10043693 {source="EFO:1000827"} xref: MeSH:D050033 xref: MONDO:0006666 xref: NCIT:C26942 {source="MONDO:equivalentTo"} xref: SCTID:190309006 {source="MONDO:equivalentTo"} xref: UMLS:C2981141 {source="MONDO:equivalentTo"} is_a: EFO:1000627 {source="EFO:1000827", source="NCIT:C26942/inferred"} ! thyroid disease property_value: closeMatch http://identifiers.org/meddra/10043693 property_value: exactMatch http://identifiers.org/snomedct/190309006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2981141 property_value: exactMatch NCIT:C26942 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000828 name: B- and T-cell mixed leukemia def: "An acute leukemia of ambiguous lineage characterized by blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. (WHO, 2001)" [NCIT:P378] subset: ordo_disease {source="Orphanet:98837"} synonym: "acute biphenotypic leukemia" EXACT [] {comment="preferred label from MONDO"} synonym: "acute biphenotypic leukemia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "B- and T-cell mixed leukaemia" EXACT OMO:0003005 [] synonym: "B- and T-cell mixed leukemia" EXACT [MONDO:0006667] xref: DOID:9953 {source="EFO:1000828", source="MONDO:equivalentTo"} xref: EFO:1000828 {source="MONDO:equivalentTo"} xref: ICD10:C95.0 {source="DOID:9953", source="ORDO:98837/ntbt", source="Orphanet:98837"} xref: ICD9:207.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:207.80 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9805/3 {source="NCIT:C4673"} xref: MedDRA:10067399 {source="Orphanet:98837", source="Orphanet:98837/e"} xref: MedDRA:10067399 {source="ORDO:98837/e", source="Orphanet:98837"} xref: MESH:D015456 {source="DOID:9953", source="EFO:1000828", source="MONDO:equivalentTo", source="Orphanet:98837", source="Orphanet:98837/e"} xref: MESH:D015456 {source="DOID:9953", source="EFO:1000828", source="MONDO:equivalentTo", source="ORDO:98837/e", source="Orphanet:98837"} xref: MONDO:0020322 xref: NCIT:C4673 {source="DOID:9953", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C4673 {source="DOID:9953", source="MONDO:equivalentTo", source="exact-label-match"} xref: Orphanet:98837 {source="MONDO:equivalentObsolete"} xref: Orphanet:98837 {source="MONDO:equivalentTo"} xref: SCTID:278453007 {source="DOID:9953", source="MONDO:equivalentTo"} xref: UMLS:C0023464 {source="DOID:9953", source="MONDO:equivalentTo", source="NCIT:C4673", source="ORDO:98837/e", source="Orphanet:98837"} xref: UMLS:C0023464 {source="DOID:9953", source="MONDO:equivalentTo", source="NCIT:C4673", source="Orphanet:98837", source="Orphanet:98837/e"} is_a: EFO:0000220 {source="DOID:9953", source="EFO:1000828"} ! acute lymphoblastic leukemia is_a: MONDO:0017814 ! primary bone lymphoma is_a: MONDO:0017893 ! inherited acute myeloid leukemia is_a: MONDO:0020743 {source="NCIT:C4673"} ! mixed phenotype acute leukemia property_value: closeMatch http://identifiers.org/meddra/10067399 property_value: closeMatch http://identifiers.org/snomedct/128818009 property_value: exactMatch DOID:9953 property_value: exactMatch DOID:9953 property_value: exactMatch http://identifiers.org/meddra/10067399 property_value: exactMatch http://identifiers.org/mesh/D015456 property_value: exactMatch http://identifiers.org/mesh/D015456 property_value: exactMatch http://identifiers.org/snomedct/278453007 property_value: exactMatch http://identifiers.org/snomedct/278453007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023464 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023464 property_value: exactMatch NCIT:C4673 property_value: exactMatch NCIT:C4673 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql [Term] id: EFO:1000829 name: bacterial conjunctivitis def: "Inflammation of the conjunctiva caused by a variety of bacterial agents." [NCIT:P378] def: "Purulent infections of the conjunctiva by several species of gram-negative, gram-positive, or acid-fast organisms. Some of the more commonly found genera causing conjunctival infections are Haemophilus, Streptococcus, Neisseria, and Chlamydia." [] synonym: "Bacteria caused conjunctival disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Bacteria conjunctival disease" EXACT [] synonym: "bacterial conjunctivitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Conjunctivitis, Bacterial" EXACT [] synonym: "purulent conjunctivitis" EXACT [DOID:9700] synonym: "Purulent conjunctivitis (disorder)" EXACT [] xref: DOID:9700 {source="EFO:1000829", source="MONDO:equivalentTo"} xref: ICD9:372.03 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10061784 {source="EFO:1000829"} xref: MESH:D003234 {source="DOID:9700", source="EFO:1000829", source="MONDO:equivalentTo"} xref: MeSH:D003234 xref: MONDO:0006668 xref: NCIT:C53656 {source="DOID:9700", source="EFO:1000829", source="MONDO:equivalentTo"} xref: NCIt:C53656 xref: SCTID:243321006 {source="DOID:9700", source="MONDO:equivalentTo"} xref: SNOMEDCT:128350005 xref: UMLS:C0009768 {source="DOID:9700", source="MONDO:equivalentTo", source="NCIT:C53656"} is_a: EFO:0000771 {source="MESH:D003234/inferred", source="MONDO:Redundant", source="NCIT:C53656"} ! bacterial disease is_a: EFO:0009450 {source="DOID:9700", source="MESH:D003234", source="NCIT:C53656/inferred"} ! conjunctivitis is_a: MONDO:0043885 ! eye infectious disorder property_value: closeMatch http://identifiers.org/meddra/10061784 property_value: exactMatch DOID:9700 property_value: exactMatch http://identifiers.org/mesh/D003234 property_value: exactMatch http://identifiers.org/snomedct/243321006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009768 property_value: exactMatch NCIT:C53656 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000830 name: bacterial endocarditis def: "Endocarditis that is caused by an infection with a bacterial agent." [NCIT:C128359] def: "Inflammation of the ENDOCARDIUM caused by BACTERIA that entered the bloodstream. The strains of bacteria vary with predisposing factors, such as CONGENITAL HEART DEFECTS; HEART VALVE DISEASES; HEART VALVE PROSTHESIS IMPLANTATION; or intravenous drug use." [] synonym: "acute and subacute bacterial endocarditis" EXACT [] synonym: "acute and subacute bacterial endocarditis (disorder)" EXACT [] synonym: "acute and subacute bacterial endocarditis NOS (disorder)" EXACT [] synonym: "Bacteria caused endocarditis (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Bacteria endocarditis (disease)" EXACT [] synonym: "Bacterial endocarditis" EXACT [] synonym: "bacterial endocarditis" EXACT [] {comment="preferred label from MONDO"} synonym: "bacterial endocarditis" EXACT [MONDO:ambiguous] synonym: "Bacterial endocarditis (& [acute] or [subacute])" EXACT [] synonym: "bacterial endocarditis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Bacterial endocarditis (disorder)" EXACT [] synonym: "Bacterial endocarditis (disorder) [Ambiguous]" EXACT [] synonym: "Endocarditis, Bacterial" EXACT [] synonym: "Endocarditis, infective NOS" EXACT [] xref: DOID:762 xref: HP:0006689 {source="MONDO:otherHierarchy"} xref: MedDRA:10004019 {source="EFO:1000830"} xref: MESH:D004697 {source="MONDO:equivalentTo", source="EFO:1000830"} xref: MeSH:D004697 xref: MONDO:0006669 xref: NCIT:C128359 {source="MONDO:equivalentTo"} xref: SCTID:301183007 {source="MONDO:equivalentTo", source="EFO:1000830"} xref: SNOMEDCT:301183007 xref: UMLS:C0014121 {source="MONDO:equivalentTo", source="NCIT:C128359"} is_a: EFO:0000771 ! bacterial disease is_a: MONDO:0000565 ! infective endocarditis property_value: closeMatch http://identifiers.org/meddra/10004019 property_value: exactMatch http://identifiers.org/mesh/D004697 property_value: exactMatch http://identifiers.org/snomedct/301183007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014121 property_value: exactMatch NCIT:C128359 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000589 "bacterial endocarditis (disease)" xsd:string [Term] id: EFO:1000831 name: bacterial meningitis def: "Bacterial infections of the leptomeninges and subarachnoid space, frequently involving the cerebral cortex, cranial nerves, cerebral blood vessels, spinal cord, and nerve roots." [] def: "Inflammation of the membranes surrounding the brain and spinal cord due to a bacterial infection." [NCIT:P378] subset: gard_rare {source="GARD:0005881"} synonym: "Bacteria caused infectious meningitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Bacteria infectious meningitis" EXACT [] synonym: "bacterial meningitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Meningitis, Bacterial" EXACT [] synonym: "meningitis, bacterial" RELATED [GARD:0005881] xref: DOID:9470 {source="MONDO:equivalentTo", source="EFO:1000831"} xref: ICD10:G00 xref: ICD9:320 {source="DOID:9470", source="EFO:1000831"} xref: ICD9:320.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:320.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:320.9 {source="DOID:9470", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10004049 {source="EFO:1000831"} xref: MESH:D016920 {source="DOID:9470", source="MONDO:equivalentTo", source="EFO:1000831"} xref: MeSH:D016920 xref: MONDO:0006670 xref: NCIT:C118297 {source="DOID:9470", source="MONDO:equivalentTo", source="EFO:1000831"} xref: NCIt:C118297 xref: SCTID:95883001 {source="DOID:9470", source="MONDO:equivalentTo", source="EFO:1000831"} xref: SNOMEDCT:95883001 xref: UMLS:C0085437 {source="NCIT:C118297", source="DOID:9470", source="MONDO:equivalentTo"} is_a: EFO:0000584 {source="DOID:9470", source="EFO:1000831", source="MESH:D016920", source="MONDO:Redundant", source="NCIT:C118297"} ! infectious meningitis is_a: EFO:0000771 ! bacterial disease property_value: closeMatch http://identifiers.org/meddra/10004049 property_value: exactMatch DOID:9470 property_value: exactMatch http://identifiers.org/mesh/D016920 property_value: exactMatch http://identifiers.org/snomedct/95883001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085437 property_value: exactMatch NCIT:C118297 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5881/bacterial-meningitis xsd:anyURI {source="GARD:0005881"} [Term] id: EFO:1000832 name: Bacteroides infectious disease def: "Infections with bacteria of the genus BACTEROIDES." [] def: "Infections with bacteria of the genus bacteroides." [MESH:D001442] synonym: "Bacteroides caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Bacteroides disease or disorder" EXACT [] synonym: "Bacteroides infection" RELATED [MESH:D001442] synonym: "Bacteroides Infections" EXACT [] synonym: "Bacteroides infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "infection caused by Bacteroides" RELATED [] synonym: "infection due to Bacteroides" EXACT [] synonym: "infection, Bacteroides" RELATED [MESH:D001442] synonym: "infections, Bacteroides" RELATED [MESH:D001442] xref: DOID:4641 xref: ICD9:041.84 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D001442 {source="MONDO:equivalentTo", source="EFO:1000832"} xref: MeSH:D001442 xref: MONDO:0006671 xref: SCTID:2918000 {source="MONDO:equivalentTo"} xref: UMLS:C0004669 {source="MONDO:equivalentTo"} is_a: EFO:1000872 {source="MESH:D001442", source="MONDO:Entailed", source="MONDO:Redundant"} ! commensal Bacteroidaceae infectious disease is_a: MONDO:0024389 ! anaerobic bacteria infectious disease property_value: exactMatch http://identifiers.org/mesh/D001442 property_value: exactMatch http://identifiers.org/snomedct/2918000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004669 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000833 name: balanitis def: "An infectious or non-infectious inflammatory process that affects the glans penis. Symptoms include redness and pain of the glans penis and foreskin and discharge." [NCIT:C26705] def: "Inflammation of the head of the PENIS, glans penis." [] synonym: "Balanitis" EXACT [] synonym: "balanitis" EXACT [NCIT:C26705] synonym: "balanitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Balanitis (disorder)" EXACT [] synonym: "Balanitis [Ambiguous]" EXACT [] synonym: "glans penis inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "inflammation of glans penis" EXACT [] xref: DOID:13033 {source="MONDO:equivalentTo", source="EFO:1000833"} xref: ICD10CM:N48.1 {source="MONDO:equivalentTo", source="DOID:13033"} xref: ICD10WHO:N48.1 {source="MONDO:equivalentTo"} xref: MedDRA:10004073 {source="EFO:1000833"} xref: MESH:D001446 {source="MONDO:equivalentTo", source="DOID:13033", source="EFO:1000833"} xref: MeSH:D001446 xref: MONDO:0006672 xref: NCIT:C26705 {source="MONDO:equivalentTo", source="DOID:13033", source="EFO:1000833"} xref: NCIt:C26705 xref: SCTID:44882003 {source="MONDO:equivalentTo", source="DOID:13033", source="EFO:1000833"} xref: SNOMEDCT:44882003 xref: UMLS:C0004690 {source="MONDO:equivalentTo", source="DOID:13033", source="NCIT:C26705"} is_a: EFO:0009903 {source="MONDO:Redundant"} ! inflammatory disease is_a: MONDO:0002036 {source="DOID:13033", source="MESH:D001446", source="MONDO:Redundant", source="NCIT:C26705/inferred"} ! penile disorder property_value: closeMatch http://identifiers.org/meddra/10004073 property_value: exactMatch DOID:13033 property_value: exactMatch http://identifiers.org/mesh/D001446 property_value: exactMatch http://identifiers.org/snomedct/44882003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004690 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/N48.1 property_value: exactMatch https://icd.who.int/browse10/2019/en#/N48.1 property_value: exactMatch NCIT:C26705 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1000834 name: basophil adenoma def: "An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with basic dyes." [NCIT:P378] synonym: "basophil adenoma" RELATED [DOID:4542] synonym: "basophilic adenoma" EXACT [NCIT:C2856] synonym: "basophilic pituitary gland adenoma" EXACT [NCIT:C2856] synonym: "mucoid cell adenoma" EXACT [NCIT:C2856] synonym: "pituitary basophilic adenoma" EXACT [NCIT:C2856] synonym: "pituitary gland basophil adenoma" EXACT [] {comment="preferred label from MONDO"} synonym: "pituitary gland basophil adenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "pituitary gland basophilic adenoma" EXACT [DOID:4542, NCIT:C2856] xref: DOID:4542 {source="MONDO:equivalentTo", source="EFO:1000834"} xref: EFO:1000834 {source="MONDO:equivalentTo"} xref: ICDO:8300/0 {source="NCIT:C2856"} xref: MESH:D000237 {source="DOID:4542", source="MONDO:equivalentTo", source="EFO:1000834"} xref: MONDO:0006673 xref: NCIT:C2856 {source="DOID:4542", source="MONDO:equivalentTo", source="EFO:1000834"} xref: UMLS:C0001431 {source="DOID:4542", source="MONDO:equivalentTo", source="NCIT:C2856"} is_a: EFO:1000478 {source="DOID:4542", source="EFO:1000834"} ! Pituitary Gland Adenoma is_a: MONDO:0003641 ! central nervous system hematopoietic neoplasm is_a: MONDO:0004805 {source="DOID:4542"} ! leukocyte disorder property_value: closeMatch http://identifiers.org/snomedct/9436005 property_value: exactMatch DOID:4542 property_value: exactMatch DOID:4542 property_value: exactMatch http://identifiers.org/mesh/D000237 property_value: exactMatch http://identifiers.org/mesh/D000237 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001431 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001431 property_value: exactMatch NCIT:C2856 property_value: exactMatch NCIT:C2856 [Term] id: EFO:1000835 name: benign fibrous mesothelioma def: "A rare neoplasm, usually benign, derived from mesenchymal fibroblasts located in the submesothelial lining of the PLEURA. It spite of its various synonyms, it has no features of mesothelial cells and is not related to malignant MESOTHELIOMA or asbestos exposure." [EFO:1000835] comment: Editor note: consider merging into MONDO:0021041 synonym: "benign fibrous mesothelioma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "fibrous mesothelioma, benign" EXACT [DOID:2653] synonym: "fibrous mesothelioma, benign (morphologic abnormality)" EXACT [DOID:2653, EFO:1000835] synonym: "localized benign fibrous mesothelioma" EXACT [DOID:2653, EFO:1000835, NCIT:C4281] synonym: "solitary fibrous tumor, pleural" RELATED [EFO:1000835] xref: DOID:2653 {source="MONDO:equivalentTo", source="EFO:1000835"} xref: MESH:D054363 {source="DOID:2653", source="MONDO:equivalentTo", source="EFO:1000835"} xref: UMLS:C0334511 {source="DOID:2653", source="MONDO:equivalentTo"} is_a: EFO:0000588 ! mesothelioma is_a: EFO:0002422 ! benign neoplasm property_value: closeMatch http://identifiers.org/snomedct/15702005 property_value: exactMatch DOID:2653 property_value: exactMatch http://identifiers.org/mesh/D054363 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334511 [Term] id: EFO:1000836 name: benign monoclonal gammopathy def: "Conditions characterized by the presence of M protein (Monoclonal protein) in serum or urine without clinical manifestations of plasma cell dyscrasia." [] synonym: "benign Monoclonal Gammopathy" EXACT [] synonym: "benign monoclonal gammopathy (disorder)" EXACT [] synonym: "BMH" EXACT [] synonym: "Monoclonal Gammopathy of Undetermined Significance" EXACT [] xref: DOID:3404 xref: MeSH:D008998 xref: SNOMEDCT:58648008 is_a: EFO:0000203 ! monoclonal gammopathy property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000837 name: beriberi def: "A disease caused by a deficiency of thiamine (vitamin B1) and characterized by polyneuritis, cardiac pathology, and edema. The epidemic form is found primarily in areas in which white (polished) rice is the staple food, as in Japan, China, the Philippines, India, and other countries of southeast Asia. (Dorland, 27th ed)" [] def: "Beriberi is a condition that occurs in people who are deficient in thiamine (vitamin B1). There are two major types of beriberi: wet beriberi which affects the cardiovascular system and dry beriberi which affects the nervous system. People with wet beriberi may experience increased heart rate, shortness of breath, and swelling of the lower legs. Signs and symptoms of dry beriberi include difficulty walking; loss of feeling in the hands and/or feet; paralysis of the lower legs; mental confusion; speech difficulty; pain; and/or vomiting. Beriberi is rare in the United States since many foods are now vitamin enriched; however, alcohol abuse, dialysis and taking high doses of diuretics increases the risk of developing the condition. In most cases,beriberi occurs sporadically in people with no family history of the condition. A rare condition known as genetic beriberi is inherited (passed down through families) and is associated with an inability to absorb thiamine from foods. Treatment generally includes thiamine supplementation, given by injection or taken by mouth." [https://rarediseases.info.nih.gov/diseases/9948/beriberi] comment: Editor note: check if beriberi should be made a subclass of TD subset: gard_rare {source="GARD:0009948"} synonym: "Beri Beri" EXACT [NCIT:C34418] synonym: "Beriberi" EXACT [] synonym: "beriberi" EXACT [] {comment="preferred label from MONDO"} synonym: "thiamine deficiency" EXACT [GARD:0009948] synonym: "vitamin B1 deficiency" EXACT [GARD:0009948] xref: DOID:0070313 {source="MONDO:equivalentTo"} xref: DOID:13725 {source="EFO:1000837", source="MONDO:equivalentTo"} xref: ICD10:E51.1 xref: ICD9:265.0 {source="DOID:13725", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10004482 {source="EFO:1000837"} xref: MESH:D001602 {source="EFO:1000837", source="DOID:13725", source="MONDO:equivalentTo"} xref: MeSH:D001602 xref: MONDO:0006676 xref: NCIT:C34418 {source="DOID:13725", source="MONDO:equivalentTo"} xref: SCTID:36656008 {source="EFO:1000837", source="DOID:13725", source="MONDO:equivalentTo"} xref: SNOMEDCT:36656008 xref: UMLS:C0005122 {source="DOID:13725", source="MONDO:equivalentTo"} is_a: MONDO:0042976 {source="MESH:D001602/inferred", source="NCIT:C34418"} ! vitamin B deficiency relationship: disease_causes_feature EFO:1001242 ! Wernicke-Korsakoff syndrome property_value: closeMatch http://identifiers.org/meddra/10004482 property_value: exactMatch DOID:0070313 property_value: exactMatch DOID:13725 property_value: exactMatch http://identifiers.org/mesh/D001602 property_value: exactMatch http://identifiers.org/snomedct/36656008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005122 property_value: exactMatch NCIT:C34418 property_value: IAO:0000117 "Dani Welter" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9948/beriberi xsd:anyURI {source="GARD:0009948"} [Term] id: EFO:1000838 name: bile reflux def: "Retrograde bile flow. Reflux of bile can be from the duodenum to the stomach (DUODENOGASTRIC REFLUX); to the esophagus (GASTROESOPHAGEAL REFLUX); or to the PANCREAS." [] def: "Retrograde bile flow. Reflux of bile can be from the duodenum to the stomach (duodenogastric reflux); to the esophagus (gastroesophageal reflux); or to the pancreas." [MESH:D001655] synonym: "Bile Reflux" EXACT [] synonym: "bile reflux" EXACT [] {comment="preferred label from MONDO"} xref: DOID:12237 {source="EFO:1000838", source="MONDO:equivalentTo"} xref: MESH:D001655 {source="EFO:1000838", source="DOID:12237", source="MONDO:equivalentTo"} xref: MeSH:D001655 xref: MONDO:0006677 xref: UMLS:C0005403 {source="DOID:12237", source="MONDO:equivalentTo"} is_a: EFO:0009534 {source="DOID:12237", source="MESH:D001655"} ! biliary tract disease property_value: exactMatch DOID:12237 property_value: exactMatch http://identifiers.org/mesh/D001655 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005403 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1000839 name: bladder calculus def: "A concretion in the urinary bladder." [NCIT:P378] def: "Stones in the URINARY BLADDER; also known as vesical calculi, bladder stones, or cystoliths." [] synonym: "bladder calculus" EXACT [] {comment="preferred label from MONDO"} synonym: "bladder stone" EXACT [] synonym: "bladder stones" EXACT [] synonym: "cystoliths" EXACT [] synonym: "Urinary Bladder Calculi" EXACT [] synonym: "vesical calculi" EXACT [] xref: DOID:11355 {source="EFO:1000839", source="MONDO:equivalentTo"} xref: ICD9:594.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10005001 {source="EFO:1000839"} xref: MESH:D001744 {source="EFO:1000839", source="MONDO:equivalentTo", source="DOID:11355"} xref: MeSH:D001744 xref: MONDO:0006678 xref: NCIt:C26707 xref: SCTID:70650003 {source="EFO:1000839", source="MONDO:equivalentTo", source="DOID:11355"} xref: SNOMEDCT:70650003 xref: UMLS:C0005683 {source="MONDO:equivalentTo", source="DOID:11355"} is_a: EFO:1000018 {source="EFO:1000839", source="MESH:D001744"} ! bladder disease is_a: MONDO:0004828 {source="DOID:11355"} ! lower urinary tract calculus property_value: closeMatch http://identifiers.org/meddra/10005001 property_value: exactMatch DOID:11355 property_value: exactMatch http://identifiers.org/mesh/D001744 property_value: exactMatch http://identifiers.org/snomedct/70650003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005683 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000840 name: bladder neck obstruction def: "Blockage of the opening between the bladder and the urethra resulting in the reduction or prevention of the urine flow from the bladder into the urethra." [NCIT:P378] def: "Blocked urine flow through the bladder neck, the narrow internal urethral opening at the base of the URINARY BLADDER. Narrowing or strictures of the URETHRA can be congenital or acquired. It is often observed in males with enlarged PROSTATE glands." [] synonym: "bladder neck obstruction" EXACT [] {comment="preferred label from MONDO"} synonym: "bladder neck obstruction (disorder)" EXACT [] synonym: "Obstruction of bladder neck or vesicourethral orifice" EXACT [] synonym: "obstruction of bladder neck or vesicourethral orifice" EXACT [DOID:13948] synonym: "Urinary Bladder Neck Obstruction" EXACT [] xref: DOID:13948 {source="MONDO:equivalentTo", source="EFO:1000840"} xref: ICD10:N35 xref: ICD10CM:N32.0 {source="MONDO:equivalentTo", source="DOID:13948"} xref: ICD9:596.0 {source="MONDO:equivalentTo", source="DOID:13948", source="MONDO:i2s"} xref: MedDRA:10005053 {source="EFO:1000840"} xref: MESH:D001748 {source="MONDO:equivalentTo", source="DOID:13948", source="EFO:1000840"} xref: MeSH:D001748 xref: MONDO:0006679 xref: SCTID:399072004 {source="MONDO:equivalentTo", source="DOID:13948", source="EFO:1000840"} xref: SNOMEDCT:399072004 xref: UMLS:C0005694 {source="MONDO:equivalentTo", source="DOID:13948"} is_a: EFO:1000018 {source="DOID:13948", source="EFO:1000840", source="MESH:D001748"} ! bladder disease property_value: closeMatch http://identifiers.org/meddra/10005053 property_value: exactMatch DOID:13948 property_value: exactMatch http://identifiers.org/mesh/D001748 property_value: exactMatch http://identifiers.org/snomedct/399072004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005694 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/N32.0 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1000841 name: blue nevus def: "An intradermal nevus characterized by the presence of benign pigmented dendritic spindle-shaped melanocytes. It most frequently occurs in the skin of the distal upper extremities, followed by the lower extremities, scalp, face, and buttocks. It usually presents as a single blue or blue-black papular lesion less than 1cm in diameter. Simple excision is usually curative." [NCIT:C3803] subset: gard_rare synonym: "benign mesenchymal melanoma" RELATED [GARD:0008452] synonym: "blue neuronevus" RELATED [GARD:0008452] synonym: "blue nevus" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "blue nevus" EXACT [GARD:0008452] synonym: "blue nevus" EXACT [] {comment="preferred label from MONDO"} synonym: "blue Nevus of skin" EXACT [NCIT:C3803] synonym: "blue Nevus of the skin" EXACT [NCIT:C3803] synonym: "blue skin Nevus" EXACT [NCIT:C3803] synonym: "Jadassohn-TiC(che nevus" RELATED [GARD:0008452] synonym: "Jadassohn-TiC(che syndrome" RELATED [GARD:0008452] synonym: "Jadassohn-Tièche nevus" RELATED [GARD:0008452] synonym: "Jadassohn-Tièche syndrome" RELATED [GARD:0008452] synonym: "Tièche-Jadassohn nevus" RELATED [GARD:0008452] xref: EFO:1000841 {source="MONDO:equivalentTo"} xref: GARD:0008452 {source="MONDO:equivalentTo"} xref: ICDO:8780/0 {source="NCIT:C3803"} xref: MedDRA:10062788 {source="EFO:1000841"} xref: MESH:D018329 {source="MONDO:equivalentTo", source="EFO:1000841"} xref: MONDO:0006680 xref: NCIT:C3803 {source="MONDO:equivalentTo", source="EFO:1000841", source="MONDO:exact-label-match"} xref: NCIT:C3803 {source="MONDO:equivalentTo", source="EFO:1000841", source="exact-label-match"} xref: SCTID:254806009 {source="MONDO:equivalentTo"} is_a: EFO:0009675 {source="EFO:1000841", source="MESH:D018329/inferred", source="NCIT:C3803/inferred"} ! melanocytic nevus property_value: closeMatch DOID:2086 property_value: closeMatch http://identifiers.org/meddra/10062788 property_value: closeMatch http://identifiers.org/meddra/10062788 property_value: closeMatch http://identifiers.org/snomedct/63166000 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0206736 property_value: exactMatch http://identifiers.org/mesh/D018329 property_value: exactMatch http://identifiers.org/mesh/D018329 property_value: exactMatch http://identifiers.org/snomedct/254806009 property_value: exactMatch http://identifiers.org/snomedct/254806009 property_value: exactMatch NCIT:C3803 property_value: exactMatch NCIT:C3803 [Term] id: EFO:1000842 name: Borrelia infectious disease def: "Infections with bacteria of the genus BORRELIA." [] def: "Infections with bacteria of the genus borrelia." [MESH:D001899] synonym: "Borrelia caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Borrelia disease or disorder" EXACT [] synonym: "Borrelia Infections" EXACT [] synonym: "Borrelia infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "borreliosis" EXACT [] synonym: "Borreliosis (disorder)" EXACT [] synonym: "Borreliosis, NOS" EXACT [] xref: DOID:11730 xref: MedDRA:10061591 {source="EFO:1000842"} xref: MESH:D001899 {source="MONDO:equivalentTo", source="EFO:1000842"} xref: MeSH:D001899 xref: MONDO:0006681 xref: UMLS:C0006035 {source="MONDO:equivalentTo"} is_a: EFO:0009567 ! Spirochaetales Infections property_value: closeMatch http://identifiers.org/meddra/10061591 property_value: exactMatch http://identifiers.org/mesh/D001899 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006035 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1000843 name: brachial plexus neuritis def: "A syndrome associated with inflammation of the BRACHIAL PLEXUS. Clinical features include severe pain in the shoulder region which may be accompanied by MUSCLE WEAKNESS and loss of sensation in the upper extremity. This condition may be associated with VIRUS DISEASES; IMMUNIZATION; SURGERY; heroin use (see HEROIN DEPENDENCE); and other conditions. The term brachial neuralgia generally refers to pain associated with brachial plexus injury. (From Adams et al., Principles of Neurology, 6th ed, pp1355-6)" [] def: "An inflammatory process affecting the brachial plexus. It results in severe pain in the upper extremity and shoulder, upper arm weakness and loss of sensation in the upper arm." [NCIT:P378] subset: gard_rare synonym: "acute brachial neuritis" RELATED [GARD:0004228] synonym: "acute brachial neuritis syndrome" RELATED [GARD:0004228] synonym: "acute brachial radiculitis syndrome" RELATED [GARD:0004228] synonym: "acute shoulder neuritis" RELATED [GARD:0004228] synonym: "brachial nerve plexus neuritis" EXACT [MONDO:patterns/location] synonym: "Brachial neuritis" EXACT [] synonym: "brachial neuritis" EXACT [DOID:3689] synonym: "Brachial neuritis (disorder)" EXACT [] synonym: "Brachial Plexus Neuritis" EXACT [] synonym: "brachial plexus neuritis" EXACT [] {comment="preferred label from MONDO"} synonym: "idiopathic neuralgic amyotrophy" RELATED [GARD:0004228] synonym: "neuritis of brachial nerve plexus" EXACT [MONDO:design_pattern] synonym: "parsonage Turner syndrome" RELATED [GARD:0004228] synonym: "Parsonage-Aldren-Turner syndrome" EXACT [] synonym: "parsonage-Aldren-Turner syndrome" EXACT [DOID:3689] xref: DOID:3689 {source="MONDO:equivalentTo", source="EFO:1000843"} xref: ICD9:723.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10073002 {source="EFO:1000843"} xref: MESH:D020968 {source="DOID:3689", source="MONDO:equivalentTo", source="EFO:1000843"} xref: MeSH:D020968 xref: MONDO:0006682 xref: NCIT:C84600 {source="DOID:3689", source="MONDO:equivalentTo", source="EFO:1000843"} xref: NCIt:C84600 xref: SCTID:26609002 {source="DOID:3689", source="MONDO:directSiblingOf"} xref: SCTID:72893007 {source="DOID:3689", source="MONDO:equivalentTo"} is_a: EFO:1000844 {source="DOID:3689", source="EFO:1000843", source="MESH:D020968", source="MONDO:Redundant"} ! brachial plexus neuropathy is_a: MONDO:0002122 {source="DOID:3689", source="MESH:D020968", source="MONDO:Redundant"} ! neuritis property_value: closeMatch http://identifiers.org/meddra/10073002 property_value: exactMatch DOID:3689 property_value: exactMatch http://identifiers.org/mesh/D020968 property_value: exactMatch http://identifiers.org/snomedct/72893007 property_value: exactMatch NCIT:C84600 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000844 name: brachial plexus neuropathy def: "A brachial plexus disorder characterized by regional paresthesia, pain and muscle weakness, and limited movement in the arm or hand." [NCIT:P378] def: "Diseases of the cervical (and first thoracic) roots, nerve trunks, cords, and peripheral nerve components of the BRACHIAL PLEXUS. Clinical manifestations include regional pain, PARESTHESIA; MUSCLE WEAKNESS, and decreased sensation (HYPESTHESIA) in the upper extremity. These disorders may be associated with trauma (including BIRTH INJURIES); THORACIC OUTLET SYNDROME; NEOPLASMS; NEURITIS; RADIOTHERAPY; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp1351-2)" [] synonym: "brachial nerve plexus peripheral neuropathy" EXACT [MONDO:patterns/location] synonym: "brachial plexopathy" EXACT [DOID:3690, NCIT:C27194] synonym: "Brachial plexus disorder" EXACT [] synonym: "brachial plexus disorder" EXACT [DOID:3690] synonym: "Brachial Plexus Neuropathies" EXACT [] synonym: "brachial plexus neuropathy" EXACT [] {comment="preferred label from MONDO"} synonym: "peripheral neuropathy of brachial nerve plexus" EXACT [MONDO:design_pattern] xref: DOID:3690 {source="MONDO:equivalentTo", source="EFO:1000844"} xref: ICD9:353.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D020516 {source="MONDO:equivalentTo", source="DOID:3690", source="EFO:1000844"} xref: MeSH:D020516 xref: MONDO:0006683 xref: NCIT:C27194 {source="MONDO:equivalentTo", source="DOID:3690"} xref: SCTID:3548001 {source="MONDO:equivalentTo", source="DOID:3690"} xref: UMLS:C0700251 {source="MONDO:equivalentTo", source="DOID:3690", source="NCIT:C27194"} is_a: EFO:0009559 {source="MONDO:Redundant", source="NCIT:C27194"} ! nerve plexus disease property_value: exactMatch DOID:3690 property_value: exactMatch http://identifiers.org/mesh/D020516 property_value: exactMatch http://identifiers.org/snomedct/3548001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0700251 property_value: exactMatch NCIT:C27194 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000845 name: brain edema def: "Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see HYPOXIA, BRAIN). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of CSF flow (e.g., obstructive HYDROCEPHALUS). (From Childs Nerv Syst 1992 Sep; 8(6):301-6)" [] def: "Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see hypoxia, brain). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of csf flow (e.g., obstructive hydrocephalus). (From Childs Nerv Syst 1992 Sep; 8(6):301-6)" [MESH:D001929] synonym: "Brain Edema" EXACT [] synonym: "brain edema" EXACT [] {comment="preferred label from MONDO"} synonym: "intracranial swelling" EXACT [DOID:4724] synonym: "wet brain" EXACT [DOID:4724] xref: DOID:4724 {source="MONDO:equivalentTo", source="EFO:1000845"} xref: ICD9:348.5 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10006121 {source="EFO:1000845"} xref: MESH:D001929 {source="MONDO:equivalentTo", source="DOID:4724", source="EFO:1000845"} xref: MeSH:D001929 xref: MONDO:0006684 xref: SCTID:2032001 {source="MONDO:equivalentTo", source="DOID:4724"} is_a: EFO:0005774 {source="DOID:4724", source="EFO:1000845", source="MESH:D001929"} ! brain disease property_value: closeMatch http://identifiers.org/meddra/10006121 property_value: exactMatch DOID:4724 property_value: exactMatch http://identifiers.org/mesh/D001929 property_value: exactMatch http://identifiers.org/snomedct/2032001 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000846 name: brain hypoxia-Ischemia def: "A reduction of oxygen in the blood combined with reduced blood flow (ISCHEMIA) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ISCHEMIC ATTACK, TRANSIENT; BRAIN INFARCTION; BRAIN EDEMA; COMA; and other conditions." [] synonym: "Hypoxia-Ischemia, Brain" EXACT [] xref: DOID:4369 xref: MeSH:D020925 is_a: EFO:0000556 ! ischemia is_a: EFO:0009444 ! hypoxia property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000847 name: brain stem infarction def: "Infarctions that occur in the BRAIN STEM which is comprised of the MIDBRAIN; PONS; and MEDULLA OBLONGATA. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury." [] def: "Infarctions that occur in the brain stem which is comprised of the midbrain; pons; and medulla oblongata. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury." [MESH:D020526] synonym: "brain infarction of brainstem" EXACT [MONDO:design_pattern] synonym: "brain stem infarction" EXACT [] {comment="preferred label from MONDO"} synonym: "brain stem infarction (disorder)" EXACT [] synonym: "Brain Stem Infarctions" EXACT [] synonym: "brainstem brain infarction" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "Brainstem infarction" EXACT [] synonym: "brainstem infarction" EXACT [DOID:3523] synonym: "Brainstem infarction NOS" EXACT [] synonym: "Brainstem infarction NOS (disorder)" EXACT [] xref: DOID:3523 {source="MONDO:equivalentTo", source="EFO:1000847"} xref: ICD9:434.91 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10006147 xref: MESH:D020526 {source="MONDO:equivalentTo", source="DOID:3523", source="EFO:1000847"} xref: MeSH:D020526 xref: MONDO:0006686 xref: SCTID:95457000 {source="MONDO:equivalentTo", source="DOID:3523"} xref: UMLS:C0521542 {source="MONDO:equivalentTo", source="DOID:3523"} is_a: EFO:0004277 {source="DOID:3523", source="EFO:1000847", source="MESH:D020526", source="MONDO:Redundant"} ! brain infarction property_value: exactMatch DOID:3523 property_value: exactMatch http://identifiers.org/mesh/D020526 property_value: exactMatch http://identifiers.org/snomedct/95457000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0521542 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000848 name: breast cyst def: "A fluid-filled closed cavity or sac that is lined by an EPITHELIUM and found in the BREAST. It may appear as a single large cyst in one breast, multifocal, or bilateral in FIBROCYSTIC BREAST DISEASE." [] synonym: "Breast Cyst" EXACT [] synonym: "Cyst of breast" EXACT [] synonym: "Cyst of breast (disorder)" EXACT [] synonym: "Cyst of the breast" EXACT [] xref: DOID:10350 xref: ICD10:N63 xref: MedDRA:10006220 xref: MeSH:D047688 xref: NCIt:C5315 is_a: EFO:0003869 ! breast neoplasm property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000849 name: bronchial neoplasm def: "Tumors or cancer of the BRONCHI." [] def: "Tumors or cancer of the bronchi." [MESH:D001984] synonym: "bronchial neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "bronchial neoplasm" EXACT [MONDO:ambiguous] synonym: "bronchial neoplasm (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Bronchial Neoplasms" EXACT [] synonym: "bronchus neoplasm" EXACT [DOID:3906] synonym: "bronchus neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "bronchus tumor" EXACT [MONDO:patterns/neoplasm] synonym: "bronchus tumour" EXACT OMO:0003005 [] synonym: "neoplasm of bronchus" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of bronchus (disorder)" EXACT [] synonym: "tumor of bronchus" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of bronchus" EXACT OMO:0003005 [] xref: DOID:3906 {source="MONDO:equivalentTo"} xref: HP:0030077 {source="MONDO:otherHierarchy"} xref: MedDRA:10052245 xref: MESH:D001984 {source="MONDO:equivalentTo", source="DOID:3906"} xref: MeSH:D001984 xref: MONDO:0002807 xref: SCTID:126705004 {source="MONDO:equivalentTo", source="DOID:3906"} xref: UMLS:C0006264 {source="MONDO:equivalentTo", source="DOID:3906"} is_a: EFO:0003853 ! respiratory system neoplasm is_a: EFO:1002018 {source="DOID:3906", source="MESH:D001984", source="MONDO:Redundant"} ! bronchial disease property_value: exactMatch DOID:3906 property_value: exactMatch http://identifiers.org/mesh/D001984 property_value: exactMatch http://identifiers.org/snomedct/126705004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006264 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000589 "bronchial neoplasm (disease)" xsd:string [Term] id: EFO:1000850 name: burning mouth syndrome def: "A condition characterized by a burning or tingling sensation on the lips, tongue, or entire mouth." [NCIT:P378] def: "A group of painful oral symptoms associated with a burning or similar sensation. There is usually a significant organic component with a degree of functional overlay; it is not limited to the psychophysiologic group of disorders." [] subset: ordo_disease {source="Orphanet:353253"} synonym: "BMS" EXACT ABBREVIATION [Orphanet:353253] synonym: "Burning Mouth Syndrome" EXACT [] synonym: "burning mouth syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "oral dysesthesia" EXACT [Orphanet:353253] synonym: "Orodynia" EXACT [DOID:4331, Orphanet:353253] synonym: "stomatodynia" EXACT [Orphanet:353253] synonym: "Stomatopyrosis" EXACT [DOID:4331, Orphanet:353253] xref: DOID:4331 {source="EFO:1000850", source="MONDO:equivalentTo"} xref: MedDRA:10068065 {source="EFO:1000850"} xref: MESH:D002054 {source="DOID:4331", source="EFO:1000850", source="MONDO:equivalentTo"} xref: MeSH:D002054 xref: MONDO:0006687 xref: NCIT:C62545 {source="DOID:4331", source="EFO:1000850", source="MONDO:equivalentTo"} xref: NCIt:C62545 xref: Orphanet:353253 {source="MONDO:equivalentTo"} xref: SCTID:399165002 {source="DOID:4331", source="EFO:1000850", source="MONDO:equivalentTo"} xref: SNOMEDCT:399165002 xref: UMLS:C0006430 {source="Orphanet:353253", source="DOID:4331", source="NCIT:C62545", source="MONDO:equivalentTo"} xref: UMLS:C2930806 {source="Orphanet:353253", source="MONDO:equivalentTo"} xref: UMLS:CN242089 {source="MONDO:equivalentTo"} is_a: EFO:0000524 ! head and neck disorder is_a: EFO:1001047 {source="DOID:4331", source="MESH:D002054", source="NCIT:C62545/inferred"} ! mouth disease is_a: MONDO:0002254 {source="NCIT:C62545"} ! syndromic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0020011"} ! rare property_value: closeMatch http://identifiers.org/meddra/10068065 property_value: exactMatch DOID:4331 property_value: exactMatch http://identifiers.org/mesh/D002054 property_value: exactMatch http://identifiers.org/snomedct/399165002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006430 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930806 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242089 property_value: exactMatch NCIT:C62545 property_value: exactMatch Orphanet:353253 property_value: excluded_subClassOf MONDO:0021146 {source="Orphanet:353253"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000851 name: byssinosis def: "A condition of BRONCHOCONSTRICTION resulting from hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp in the textile industry. Symptoms include wheezing and tightness in the chest." [] def: "An occupational lung disorder caused by exposure to cotton dust. It occurs more commonly in workers in the textile industry. Signs and symptoms include chest tightness, cough and wheezing. The symptoms tend to get worse at the beginning of the week and subside by the end of the week." [NCIT:P378] subset: gard_rare {source="GARD:0005976"} synonym: "Byssinosis" EXACT [] synonym: "byssinosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Byssinosis (disorder)" EXACT [] synonym: "cotton dust pneumoconiosis" EXACT [MONDO:patterns/environmental_stimulus] synonym: "cotton mill fever" EXACT [DOID:10323] synonym: "Flax-dressers' disease" EXACT [] synonym: "flax-dressers' disease" EXACT [DOID:10323] synonym: "Monday morning fever" RELATED [GARD:0005976] synonym: "pneumoconiosis from cotton dust" EXACT [] synonym: "Stripper's asthma" EXACT [] synonym: "stripper's asthma" EXACT [DOID:10323] synonym: "textile worker's lung" NARROW [https://orcid.org/0000-0001-5208-3432] xref: DOID:10323 {source="MONDO:equivalentTo", source="EFO:1000851"} xref: ICD10:J66.0 xref: ICD10CM:J66.0 {source="DOID:10323", source="MONDO:equivalentTo", source="EFO:1000851"} xref: ICD9:504 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10006822 {source="EFO:1000851"} xref: MESH:D002095 {source="DOID:10323", source="MONDO:equivalentTo", source="EFO:1000851"} xref: MeSH:D002095 xref: MONDO:0006688 xref: NCIT:C84605 {source="DOID:10323", source="MONDO:equivalentTo", source="EFO:1000851"} xref: NCIt:C84605 xref: SCTID:13151001 {source="MONDO:equivalentTo"} xref: SNOMEDCT:85761009 xref: UMLS:C0006542 {source="DOID:10323", source="NCIT:C84605", source="MONDO:equivalentTo"} xref: UMLS:C2242894 {source="MONDO:equivalentTo"} is_a: MONDO:0015926 {source="DOID:10323", source="EFO:1000851", source="MESH:D002095", source="MONDO:Entailed", source="MONDO:Redundant"} ! pneumoconiosis property_value: closeMatch http://identifiers.org/meddra/10006822 property_value: exactMatch DOID:10323 property_value: exactMatch http://identifiers.org/mesh/D002095 property_value: exactMatch http://identifiers.org/snomedct/13151001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006542 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2242894 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/J66.0 property_value: exactMatch NCIT:C84605 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5976/byssinosis xsd:anyURI {source="GARD:0005976"} [Term] id: EFO:1000852 name: carcinoid syndrome subset: gard_rare {source="GARD:0005994"} subset: ordo_clinical_syndrome {source="Orphanet:100093"} synonym: "carcinoid syndrome" EXACT [MONDO:0006689, MONDO:0007262] synonym: "carcinoid syndrome" EXACT [MONDO:0006689] synonym: "carcinoid syndrome" EXACT [MONDO:0007262] synonym: "carcinoid syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "carcinoid syndrome" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "carcinoid tumor syndrome" RELATED [GARD:0005994] synonym: "carcinoid tumors, intestinal" RELATED [OMIM:114900] synonym: "carcinoid tumour syndrome" RELATED OMO:0003005 [] synonym: "malignant carcinoid syndrome" EXACT [Orphanet:100093] xref: COHD:199771 {source="MONDO:equivalentTo"} xref: EFO:1000852 {source="MONDO:equivalentTo"} xref: GARD:0005994 {source="MONDO:equivalentTo"} xref: ICD10:E34.0 {source="MONDO:equivalentTo", source="EFO:1000852", source="Orphanet:100093", source="ORDO:100093/e"} xref: ICD10CM:E34.0 {source="Orphanet:100093/e", source="MONDO:equivalentTo", source="EFO:1000852", source="Orphanet:100093"} xref: ICD9:259.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:1000852"} xref: ICD9:259.2 {source="MONDO:equivalentTo", source="EFO:1000852", source="i2s"} xref: MedDRA:10007270 {source="EFO:1000852"} xref: MONDO:0100347 xref: NCIT:C3215 {source="MONDO:equivalentTo", source="EFO:1000852"} xref: Orphanet:100093 {source="MONDO:equivalentTo", source="OMIM:114900"} xref: SCTID:35868009 {source="MONDO:equivalentTo", source="EFO:1000852"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C3215/inferred"} ! syndromic disease intersection_of: MONDO:0002254 ! syndromic disease intersection_of: disease_has_feature EFO:0004243 ! carcinoid tumor relationship: disease_has_feature EFO:0004243 ! carcinoid tumor property_value: closeMatch DOID:8600 property_value: closeMatch http://identifiers.org/meddra/10007270 property_value: closeMatch http://identifiers.org/meddra/10007270 property_value: closeMatch http://identifiers.org/mesh/D008303 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0024586 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0349535 property_value: exactMatch http://identifiers.org/omim/114900 property_value: exactMatch http://identifiers.org/snomedct/35868009 property_value: exactMatch http://identifiers.org/snomedct/35868009 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E34.0 property_value: exactMatch NCIT:C3215 property_value: exactMatch NCIT:C3215 property_value: exactMatch Orphanet:100093 property_value: excluded_subClassOf MONDO:0005369 {source="EFO:1000852"} property_value: excluded_subClassOf MONDO:0015078 {source="Orphanet:100093"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5994/carcinoid-syndrome xsd:anyURI {source="GARD:0005994"} created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: EFO:1000853 name: carotid artery thrombosis def: "Blood clot formation in any part of the CAROTID ARTERIES. This may produce CAROTID STENOSIS or occlusion of the vessel, leading to TRANSIENT ISCHEMIC ATTACK; CEREBRAL INFARCTION; or AMAUROSIS FUGAX." [] def: "Blood clot formation in any part of the carotid arteries. This may produce carotid stenosis or occlusion of the vessel, leading to transient ischemic attack; cerebral infarction; or amaurosis fugax." [MESH:D002341] synonym: "Carotid Artery Thrombosis" EXACT [] synonym: "Carotid artery thrombosis" EXACT [] synonym: "carotid artery thrombosis" EXACT [] {comment="preferred label from MONDO"} synonym: "carotid artery thrombosis" EXACT [DOID:3410] synonym: "Carotid artery thrombosis (disorder)" EXACT [] xref: DOID:3410 {source="MONDO:equivalentTo", source="EFO:1000853"} xref: ICD9:433.10 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10007688 {source="EFO:1000853"} xref: MESH:D002341 {source="DOID:3410", source="MONDO:equivalentTo", source="EFO:1000853"} xref: MeSH:D002341 xref: MONDO:0006690 xref: SCTID:86003009 {source="DOID:3410", source="MONDO:equivalentTo", source="EFO:1000853"} xref: SNOMEDCT:86003009 xref: UMLS:C0007274 {source="DOID:3410", source="MONDO:equivalentTo"} is_a: EFO:0003781 {source="DOID:3410", source="EFO:1000853", source="MESH:D002341"} ! carotid artery disease is_a: MONDO:0002907 {source="DOID:3410"} ! intracranial thrombosis property_value: closeMatch http://identifiers.org/meddra/10007688 property_value: exactMatch DOID:3410 property_value: exactMatch http://identifiers.org/mesh/D002341 property_value: exactMatch http://identifiers.org/snomedct/86003009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007274 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000854 name: causalgia def: "A complex regional pain syndrome characterized by burning pain and marked sensitivity to touch (HYPERESTHESIA) in the distribution of an injured peripheral nerve. Autonomic dysfunction in the form of sudomotor (i.e., sympathetic innervation to sweat glands), vasomotor, and trophic skin changes may also occur. (Adams et al., Principles of Neurology, 6th ed, p1359)" [] def: "Complex regional pain syndrome type 2 (CRPS2), or causalgia is a form of complex regional pain syndrome that develops after damage to a peripheral nerve and is characterized by spontaneous pain, allodynia and hyperalgesia, not necessarily limited to the territory of the injured nerve, as well as at some point, edema, changes in skin blood flow or sudomotor dysfunction in the pain area." [Orphanet:99994] subset: ordo_clinical_subtype {source="Orphanet:99994"} synonym: "Causalgia" EXACT [] synonym: "causalgia" EXACT [MONDO:0006691, Orphanet:99994] synonym: "Causalgia (disorder)" EXACT [] synonym: "Causalgia NOS" EXACT [] synonym: "Complex regional pain syndrome II" EXACT [NCIT:C121572] synonym: "complex regional pain syndrome type 2" EXACT [] {comment="preferred label from MONDO"} synonym: "Complex regional pain syndrome, type II" EXACT [DOID:3222] synonym: "Complex regional pain syndrome, type II (disorder)" EXACT [] synonym: "CRPS II" EXACT [NCIT:C121572] xref: DOID:3222 {source="MONDO:equivalentTo", source="EFO:1000854"} xref: MedDRA:10007825 {source="EFO:1000854"} xref: MedDRA:10064335 {source="Orphanet:99994", source="Orphanet:99994/e"} xref: MESH:D002422 {source="DOID:3222", source="MONDO:equivalentTo", source="EFO:1000854"} xref: MeSH:D002422 xref: MONDO:0020572 xref: NCIT:C121572 {source="DOID:3222", source="MONDO:equivalentTo"} xref: Orphanet:99994 {source="MONDO:equivalentTo"} xref: SCTID:408751001 {source="DOID:3222", source="MONDO:equivalentTo"} xref: UMLS:C0007462 {source="Orphanet:99994", source="DOID:3222", source="MONDO:equivalentTo"} is_a: EFO:1001998 {source="DOID:3222", source="MESH:D002422", source="Orphanet:99994"} ! complex regional pain syndrome is_a: MONDO:0002254 {source="NCIT:C121572"} ! syndromic disease property_value: closeMatch http://identifiers.org/meddra/10007825 property_value: closeMatch http://identifiers.org/meddra/10064335 property_value: exactMatch DOID:3222 property_value: exactMatch http://identifiers.org/mesh/D002422 property_value: exactMatch http://identifiers.org/snomedct/408751001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007462 property_value: exactMatch NCIT:C121572 property_value: exactMatch Orphanet:99994 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000855 name: central core myopathy def: "An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation." [NCIT:P378] def: "An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)" [] subset: ordo_disease {source="Orphanet:597"} synonym: "CCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:117000] synonym: "Cco" RELATED [OMIM:117000] synonym: "central core disease" EXACT [DOID:3529] synonym: "central core disease (disorder)" EXACT [] synonym: "central CORE disease of muscle" RELATED [MONDO:Lexical, OMIM:117000] synonym: "central core myopathy" EXACT [] {comment="preferred label from MONDO"} synonym: "minicore myopathy, moderate, with hand involvement" RELATED [OMIM:117000] synonym: "multicore myopathy, moderate, with hand involvement" RELATED [OMIM:117000] synonym: "multiminicore disease, moderate, with hand involvement" RELATED [OMIM:117000] synonym: "muscle core disease" RELATED [GARD:0006014] synonym: "muscular central core disease" RELATED [GARD:0006014] synonym: "Myopathy, Central Core" EXACT [] synonym: "myopathy, central core" RELATED [GARD:0006014] synonym: "myopathy, central fibrillar" RELATED [GARD:0006014] synonym: "neuromuscular disease, congenital, with uniform type 1 Fiber" RELATED [OMIM:117000] synonym: "neuromuscular disease, congenital, with uniform type 1 Fibre" RELATED OMO:0003005 [] synonym: "Shy-Magee syndrome" RELATED [GARD:0006014] xref: DOID:3529 {source="MONDO:equivalentTo", source="EFO:1000855"} xref: MESH:D020512 {source="MONDO:equivalentTo", source="DOID:3529", source="EFO:1000855"} xref: MeSH:D020512 xref: MONDO:0007294 xref: NCIT:C83010 {source="MONDO:equivalentTo", source="DOID:3529"} xref: OMIM:117000 {source="Orphanet:597/e", source="MONDO:equivalentTo", source="DOID:3529", source="Orphanet:597"} xref: Orphanet:178145 {source="OMIM:117000", source="MONDO:relatedTo"} xref: Orphanet:597 {source="OMIM:117000", source="MONDO:equivalentTo"} xref: Orphanet:598 {source="OMIM:117000", source="MONDO:directSiblingOf"} xref: SCTID:43152001 {source="MONDO:equivalentTo", source="DOID:3529"} xref: UMLS:C0751951 {source="OMIM:117000", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C83010", source="DOID:3529", source="Orphanet:597"} xref: UMLS:C1861753 {source="OMIM:117000", source="MONDO:relatedTo"} is_a: MONDO:0015765 {source="Orphanet:597"} ! congenital myopathy with cores is_a: MONDO:0018943 {source="NCIT:C83010"} ! myofibrillar myopathy is_a: MONDO:0100150 ! RYR1-related myopathy is_a: MONDO:0100196 {source="PMID:23413262", source="https://clinicalgenome.org/affiliation/40031/", source="https://github.com/monarch-initiative/mondo/issues/1922"} ! TPM2-related myopathy is_a: Orphanet:206634 ! Genetic skeletal muscle disease property_value: exactMatch DOID:3529 property_value: exactMatch http://identifiers.org/mesh/D020512 property_value: exactMatch http://identifiers.org/snomedct/43152001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751951 property_value: exactMatch https://omim.org/entry/117000 property_value: exactMatch NCIT:C83010 property_value: exactMatch Orphanet:597 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000856 name: central neurocytoma def: "A benign brain tumor composed of neural elements which most often arise from the SEPTUM PELLUCIDUM and the walls of the lateral ventricles. Immunohistochemistry and electron microscopy evaluations may reveal expression of neuron specific enolase and synaptophysin and cells containing microtubuli, neurosecretory granules, and presynaptic vesicles. (From Acta Med Port 1994 Feb;7(2):113-9)" [] synonym: "Neurocytoma" EXACT [] synonym: "Neurolipocytoma" EXACT [] xref: DOID:14174 xref: MedDRA:10063564 xref: MeSH:D018306 xref: NCIt:C3791 xref: SNOMEDCT:128858006 is_a: EFO:0007201 ! cerebral ventricle cancer property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000857 name: central pontine myelinolysis def: "A central nervous system disorder caused by demyelination within the central basis pontis of the brain. It is characterized by spastic quadriplegia, pseudobulbar palsy and encephalopathy. It is observed in patients with severe hyponatremia, particularly when the hyponatremia is corrected too rapidly." [NCIT:P378] def: "A demyelinating condition affecting the PONS and characterized clinically by an acute progressive QUADRIPLEGIA; DYSARTHRIA; DYSPHAGIA; and alterations of consciousness. Pathologic features include prominent demyelination in the central PONS with sparing of axons and neurons. This condition is usually associated with systemic disorders such as HYPONATREMIA; chronic ALCOHOLISM; LIVER FAILURE; severe BURNS; malignant NEOPLASMS; hemorrhagic PANCREATITIS; HEMODIALYSIS; and SEPSIS. The rapid medical correction of hyponatremia has been cited as a cause of this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1125-6)" [] synonym: "central pontine myelinolysis" EXACT [] {comment="preferred label from MONDO"} synonym: "central pontine myelinolysis (disorder)" EXACT [] synonym: "central pontine myelinosis" EXACT [] synonym: "Myelinolysis, Central Pontine" EXACT [] synonym: "osmotic demyelination syndrome" EXACT [DOID:636] xref: DOID:636 {source="MONDO:equivalentTo", source="EFO:1000857"} xref: ICD10:G37.2 xref: ICD10CM:G37.2 {source="DOID:636", source="MONDO:equivalentTo", source="EFO:1000857"} xref: ICD9:341.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10007968 {source="EFO:1000857"} xref: MESH:D017590 {source="DOID:636", source="MONDO:equivalentTo", source="EFO:1000857"} xref: MeSH:D017590 xref: MONDO:0006692 xref: NCIT:C84623 {source="DOID:636", source="MONDO:equivalentTo", source="EFO:1000857"} xref: NCIt:C84623 xref: SCTID:6807001 {source="DOID:636", source="MONDO:equivalentTo", source="EFO:1000857"} xref: SNOMEDCT:6807001 xref: UMLS:C0206083 {source="NCIT:C84623", source="DOID:636", source="MONDO:equivalentTo"} is_a: EFO:0005774 ! brain disease is_a: MONDO:0002562 {source="DOID:636", source="ICD10CM:G37.2/inferred", source="MESH:D017590", source="NCIT:C84623/inferred"} ! demyelinating disease property_value: closeMatch http://identifiers.org/meddra/10007968 property_value: exactMatch DOID:636 property_value: exactMatch http://identifiers.org/mesh/D017590 property_value: exactMatch http://identifiers.org/snomedct/6807001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206083 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G37.2 property_value: exactMatch NCIT:C84623 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000858 name: cerebellum cancer def: "Primary or metastatic neoplasms of the CEREBELLUM. Tumors in this location frequently present with ATAXIA or signs of INTRACRANIAL HYPERTENSION due to obstruction of the fourth ventricle. Common primary cerebellar tumors include fibrillary ASTROCYTOMA and cerebellar HEMANGIOBLASTOMA. The cerebellum is a relatively common site for tumor metastases from the lung, breast, and other distant organs. (From Okazaki & Scheithauer, Atlas of Neuropathology, 1988, p86 and p141)" [] synonym: "cerebellar cancer" EXACT [] synonym: "Cerebellar Neoplasms" EXACT [] synonym: "malignant tumor of Cerebellum" EXACT [] xref: DOID:4205 xref: MeSH:D002528 is_a: EFO:0003833 ! brain neoplasm property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000859 name: cerebral arterial disease def: "Pathological conditions of intracranial ARTERIES supplying the CEREBRUM. These diseases often are due to abnormalities or pathological processes in the ANTERIOR CEREBRAL ARTERY; MIDDLE CEREBRAL ARTERY; and POSTERIOR CEREBRAL ARTERY." [] def: "Pathological conditions of intracranial arteries supplying the cerebrum. These diseases often are due to abnormalities or pathological processes in the anterior cerebral artery; middle cerebral artery; and posterior cerebral artery." [MESH:D002539] synonym: "cerebral arterial disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Cerebral Arterial Diseases" EXACT [] xref: DOID:3527 {source="EFO:1000859", source="MONDO:equivalentTo"} xref: MESH:D002539 {source="EFO:1000859", source="MONDO:equivalentTo", source="DOID:3527"} xref: MeSH:D002539 xref: MONDO:0006693 xref: UMLS:C0007774 {source="MONDO:equivalentTo", source="DOID:3527"} is_a: EFO:1000990 {source="DOID:3527", source="MESH:D002539"} ! intracranial arterial disease property_value: exactMatch DOID:3527 property_value: exactMatch http://identifiers.org/mesh/D002539 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007774 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000860 name: cerebral atherosclerosis def: "Atherosclerosis of the cerebral vasculature." [NCIT:P378] def: "Vascular diseases characterized by thickening and hardening of the walls of ARTERIES inside the SKULL. There are three subtypes: (1) atherosclerosis with fatty deposits in the ARTERIAL INTIMA; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include HEADACHE; CONFUSION; transient blindness (AMAUROSIS FUGAX); speech impairment; and HEMIPARESIS." [] synonym: "Cerebral atherosclerosis" EXACT [] synonym: "cerebral atherosclerosis" EXACT [] {comment="preferred label from MONDO"} synonym: "cerebral atherosclerosis" EXACT [DOID:12720, ICD9CM:437.0] synonym: "Cerebral atherosclerosis (disorder)" EXACT [] synonym: "Intracranial Arteriosclerosis" EXACT [] xref: DOID:12720 {source="MONDO:equivalentTo", source="EFO:1000860"} xref: ICD10:I67.2 xref: ICD10CM:I67.2 {source="MONDO:equivalentTo", source="EFO:1000860", source="DOID:12720"} xref: ICD9:437.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12720"} xref: MedDRA:10008095 xref: MedDRA:1008095 {source="EFO:1000860"} xref: MESH:D002537 {source="MONDO:relatedTo", source="EFO:1000860", source="DOID:12720"} xref: MeSH:D002537 xref: MONDO:0006694 xref: NCIT:C34459 {source="MONDO:equivalentTo", source="EFO:1000860", source="DOID:12720"} xref: NCIt:C34459 xref: SCTID:55382008 {source="MONDO:equivalentTo", source="EFO:1000860", source="DOID:12720"} xref: SNOMEDCT:55382008 xref: UMLS:C0007775 {source="MONDO:equivalentTo", source="NCIT:C34459", source="DOID:12720"} is_a: EFO:0003914 {source="DOID:12720", source="EFO:1000860", source="NCIT:C34459"} ! atherosclerosis property_value: closeMatch http://identifiers.org/meddra/1008095 property_value: exactMatch DOID:12720 property_value: exactMatch http://identifiers.org/snomedct/55382008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007775 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/I67.2 property_value: exactMatch NCIT:C34459 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1000861 name: cervical rib syndrome def: "A condition associated with compression of the BRACHIAL PLEXUS; SUBCLAVIAN ARTERY; and SUBCLAVIAN VEIN at the thoracic outlet and caused by a complete or incomplete anomalous CERVICAL RIB or fascial band connecting the tip of a cervical rib with the first thoracic rib. Clinical manifestations may include pain in the neck and shoulder which radiates into the upper extremity, PARESIS or PARALYSIS of brachial plexus innervated muscles; sensory loss; PARESTHESIAS; ISCHEMIA; and EDEMA. (Adams et al., Principles of Neurology, 6th ed, p214)" [] synonym: "Arterial thoracic outlet syndrome due to cervical rib" EXACT [] synonym: "Cervical Rib Syndrome" EXACT [] xref: DOID:3102 xref: MedDRA:10008301 xref: MeSH:D002573 is_a: EFO:0007507 ! thoracic outlet syndrome property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000862 name: cervix erosion def: "Loss or destruction of the epithelial lining of the UTERINE CERVIX." [] def: "Loss or destruction of the epithelial lining of the uterine cervix." [MESH:D002579] synonym: "cervix erosion" EXACT [] {comment="preferred label from MONDO"} synonym: "Erosion of cervix" EXACT [] synonym: "erosion of cervix" EXACT [DOID:3456] synonym: "Erosion of cervix (disorder)" EXACT [] synonym: "Uterine Cervical Erosion" EXACT [] xref: DOID:3456 {source="MONDO:equivalentTo", source="EFO:1000862"} xref: ICD10:N86 xref: MedDRA:10015128 {source="EFO:1000862"} xref: MESH:D002579 {source="DOID:3456", source="MONDO:equivalentTo", source="EFO:1000862"} xref: MeSH:D002579 xref: MONDO:0006696 xref: SCTID:61253004 {source="DOID:3456", source="MONDO:equivalentTo", source="EFO:1000862"} xref: SNOMEDCT:61253004 xref: UMLS:C0007869 {source="DOID:3456", source="MONDO:equivalentTo"} is_a: MONDO:0002256 {source="DOID:3456", source="MESH:D002579"} ! cervix disorder property_value: closeMatch http://identifiers.org/meddra/10015128 property_value: exactMatch DOID:3456 property_value: exactMatch http://identifiers.org/mesh/D002579 property_value: exactMatch http://identifiers.org/snomedct/61253004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007869 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000863 name: Chlamydophila infectious disease def: "Infections with bacteria of the genus CHLAMYDIA." [MESH:D002690] def: "Infections with bacteria of the genus CHLAMYDOPHILA." [] synonym: "Chlamydia caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Chlamydia disease or disorder" EXACT [] synonym: "Chlamydia infection" RELATED [MESH:D002690] synonym: "Chlamydia infectious disease" EXACT [] synonym: "chlamydia infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Chlamydophila caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Chlamydophila disease or disorder" EXACT [] synonym: "Chlamydophila Infections" EXACT [] synonym: "infection, Chlamydia" RELATED [MESH:D002690] synonym: "infections, Chlamydia" RELATED [MESH:D002690] xref: DOID:11264 xref: ICD10CM:A70-A74 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: MESH:D002690 {source="MONDO:equivalentTo"} xref: MESH:D023521 {source="MONDO:equivalentTo", source="EFO:1000863"} xref: MeSH:D023521 xref: MONDO:0021697 is_a: EFO:0003955 {source="MESH:D002690"} ! bacterial sexually transmitted disease is_a: EFO:1001288 ! Chlamydiaceae Infections property_value: exactMatch http://identifiers.org/mesh/D002690 property_value: exactMatch http://identifiers.org/mesh/D023521 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A70-A74 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000864 name: cholecystolithiasis def: "Presence or formation of GALLSTONES in the GALLBLADDER." [] def: "Single or multiple, ovoid or irregular, solid particles that are formed from bile, cholesterol, and calcium in the gallbladder cavity." [NCIT:P378] synonym: "Cholecystolithiasis" EXACT [] synonym: "cholecystolithiasis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:11151 {source="MONDO:equivalentTo", source="EFO:1000864"} xref: MedDRA:10049890 {source="EFO:1000864"} xref: MESH:D041761 {source="MONDO:equivalentTo", source="DOID:11151", source="EFO:1000864"} xref: MeSH:D041761 xref: MONDO:0006698 xref: SCTID:235919008 {source="DOID:11151", source="MONDO:directSiblingOf"} xref: UMLS:C0947622 {source="MONDO:equivalentTo", source="DOID:11151"} is_a: EFO:0003832 {source="DOID:11151", source="EFO:1000864", source="MESH:D041761"} ! gallbladder disease property_value: closeMatch http://identifiers.org/meddra/10049890 property_value: exactMatch DOID:11151 property_value: exactMatch http://identifiers.org/mesh/D041761 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0947622 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000865 name: choledocholithiasis def: "Presence or formation of GALLSTONES in the COMMON BILE DUCT." [] def: "Presence or formation of gallstones in the common bile duct." [MESH:D042883] synonym: "Choledocholithiasis" EXACT [] synonym: "choledocholithiasis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:11755 {source="MONDO:equivalentTo", source="EFO:1000865"} xref: MedDRA:10049891 {source="EFO:1000865"} xref: MESH:D042883 {source="DOID:11755", source="MONDO:equivalentTo", source="EFO:1000865"} xref: MeSH:D042883 xref: MONDO:0006699 xref: UMLS:C0701818 {source="DOID:11755", source="MONDO:equivalentTo"} is_a: EFO:0001379 ! endocrine system disease is_a: EFO:0004210 ! gallstones is_a: MONDO:0002886 {source="DOID:11755", source="MESH:D042883", source="MONDO:Redundant"} ! common bile duct disorder property_value: closeMatch http://identifiers.org/meddra/10049891 property_value: exactMatch DOID:11755 property_value: exactMatch http://identifiers.org/mesh/D042883 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0701818 property_value: excluded_subClassOf MONDO:0005151 {source="EFO:1000865"} property_value: excluded_subClassOf MONDO:0005281 {source="DOID:11755"} property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1000866 name: choroid cancer def: "A malignant neoplasm involving the optic choroid." [https://orcid.org/0000-0002-6601-2165] def: "Tumors of the choroid; most common intraocular tumors are malignant melanomas of the choroid. These usually occur after puberty and increase in incidence with advancing age. Most malignant melanomas of the uveal tract develop from benign melanomas (nevi)." [] synonym: "cancer of optic choroid" EXACT [MONDO:patterns/cancer] synonym: "choroid cancer" EXACT [] {comment="preferred label from MONDO"} synonym: "choroid neoplasm" BROAD [DOID:12759] synonym: "choroidal tumor" BROAD [DOID:12759, NCIT:C2949] synonym: "choroidal tumour" BROAD OMO:0003005 [] synonym: "malignant choroid neoplasm" EXACT [NCIT:C3566] synonym: "malignant choroid tumor" EXACT [NCIT:C3566] synonym: "malignant choroid tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of choroid" EXACT [NCIT:C3566] synonym: "malignant neoplasm of optic choroid" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the choroid" EXACT [NCIT:C3566] synonym: "malignant optic choroid neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of choroid" EXACT [NCIT:C3566] synonym: "malignant tumor of choroid (disorder)" EXACT [] synonym: "malignant tumor of the Choroid" EXACT [] synonym: "malignant tumor of the choroid" EXACT [DOID:12759, NCIT:C3566] synonym: "malignant tumour of choroid" EXACT OMO:0003005 [] synonym: "malignant tumour of the choroid" EXACT OMO:0003005 [] synonym: "optic choroid cancer" EXACT [MONDO:patterns/location] xref: DOID:12759 {source="MONDO:equivalentTo", source="EFO:1000866"} xref: ICD9:190.6 {source="DOID:12759", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10057405 {source="EFO:1000866"} xref: MESH:D002830 {source="DOID:12759", source="MONDO:equivalentTo", source="EFO:1000866"} xref: MeSH:D002830 xref: MONDO:0006700 xref: NCIT:C3566 {source="DOID:12759", source="MONDO:equivalentTo"} xref: SCTID:363466008 {source="DOID:12759", source="MONDO:equivalentTo"} is_a: EFO:1001230 {source="DOID:12759", source="MONDO:Redundant", source="NCIT:C3566"} ! uveal cancer is_a: MONDO:0002095 ! vascular cancer is_a: MONDO:0021258 {source="MONDO:Redundant", source="NCIT:C3566"} ! choroid neoplasm is_a: MONDO:0043218 ! neurovascular disorder property_value: closeMatch http://identifiers.org/meddra/10057405 property_value: exactMatch DOID:12759 property_value: exactMatch http://identifiers.org/mesh/D002830 property_value: exactMatch http://identifiers.org/snomedct/363466008 property_value: exactMatch NCIT:C3566 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1000867 name: chromophobe adenoma def: "An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells do not stain with acidic or basic dyes." [NCIT:P378] synonym: "chromophobe adenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "chromophobe adenoma" EXACT [] {comment="preferred label from MONDO"} synonym: "chromophobe adenoma of pituitary gland" EXACT [NCIT:C2857] synonym: "chromophobe adenoma of the pituitary gland" EXACT [DOID:3828, NCIT:C2857] synonym: "pituitary chromophobe adenoma" EXACT [NCIT:C2857] synonym: "pituitary gland chromophobe adenoma" EXACT [NCIT:C2857] xref: DOID:3828 {source="MONDO:equivalentTo", source="EFO:1000867"} xref: EFO:1000867 {source="MONDO:equivalentTo"} xref: ICDO:8270/0 {source="NCIT:C2857"} xref: MESH:D000238 {source="MONDO:equivalentTo", source="EFO:1000867", source="DOID:3828"} xref: MONDO:0006701 xref: NCIT:C2857 {source="MONDO:equivalentTo", source="EFO:1000867", source="DOID:3828"} xref: UMLS:C0001432 {source="NCIT:C2857", source="MONDO:equivalentTo", source="DOID:3828"} is_a: EFO:1000478 {source="DOID:3828"} ! Pituitary Gland Adenoma property_value: closeMatch http://identifiers.org/snomedct/37039006 property_value: exactMatch DOID:3828 property_value: exactMatch DOID:3828 property_value: exactMatch http://identifiers.org/mesh/D000238 property_value: exactMatch http://identifiers.org/mesh/D000238 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001432 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001432 property_value: exactMatch NCIT:C2857 property_value: exactMatch NCIT:C2857 [Term] id: EFO:1000868 name: chronic inflammatory demyelinating polyradiculoneuropathy def: "A rare neurological disorder in which there is inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers. This causes weakness, paralysis and/or impairment in motor function, especially of the arms and legs (limbs). Sensory disturbance may also be present. The motor and sensory impairments usually affect both sides of the body (symmetrical), and the degree of severity and the course of disease may vary from case to case. Some affected individuals may follow a slow steady pattern of symptoms while others may have symptoms that stabilize and then relapse." [https://rarediseases.org/rare-diseases/chronic-inflammatory-demyelinating-polyneuropathy/] def: "A slowly progressive autoimmune demyelinating disease of peripheral nerves and nerve roots. Clinical manifestations include weakness and sensory loss in the extremities and enlargement of peripheral nerves. The course may be relapsing-remitting or demonstrate a step-wise progression. Protein is usually elevated in the spinal fluid and cranial nerves are typically spared. GUILLAIN-BARRE SYNDROME features a relatively rapid progression of disease which distinguishes it from this condition. (Adams et al., Principles of Neurology, 6th ed, p1337)" [] synonym: "chronic inflammatory demyelinating polyradiculoneuropathy" EXACT [Orphanet:2932] synonym: "chronic inflammatory demyelinating polyradiculoneuropathy" EXACT [] {comment="preferred label from MONDO"} synonym: "chronic inflammatory demyelinating polyradiculoneuropathy (disorder)" EXACT [] synonym: "chronic relapsing polyneuropathy" EXACT [https://rarediseases.org/rare-diseases/chronic-inflammatory-demyelinating-polyneuropathy/] synonym: "CIDP" EXACT ABBREVIATION [https://rarediseases.org/rare-diseases/chronic-inflammatory-demyelinating-polyneuropathy/, OMIM:139393, Orphanet:2932] synonym: "Polyradiculoneuropathy, Chronic Inflammatory Demyelinating" EXACT [] xref: DOID:5213 {source="MONDO:equivalentTo", source="EFO:1000868"} xref: ICD10CM:G61.81 {source="DOID:5213", source="MONDO:directSiblingOf"} xref: ICD9:357.81 {source="DOID:5213", source="MONDO:directSiblingOf"} xref: ICD9:357.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10057645 {source="EFO:1000868"} xref: MedDRA:10072650 xref: MESH:D020277 {source="DOID:5213", source="MONDO:equivalentTo", source="EFO:1000868"} xref: MeSH:D020277 xref: MONDO:0006702 xref: NCIT:C84636 {source="DOID:5213", source="MONDO:directSiblingOf"} xref: Orphanet:2932 {source="MONDO:equivalentTo"} xref: SCTID:128209004 {source="DOID:5213", source="MONDO:equivalentTo", source="EFO:1000868"} xref: SCTID:444728005 {source="DOID:5213", source="MONDO:directSiblingOf"} xref: SNOMEDCT:128209004 is_a: EFO:0009714 ! chronic disease is_a: EFO:1001116 {source="DOID:5213", source="MESH:D020277"} ! polyradiculoneuropathy is_a: MONDO:0003334 {source="DOID:5213"} ! demyelinating polyneuropathy relationship: has_modifier HP:0011010 ! Chronic property_value: closeMatch http://identifiers.org/meddra/10057645 property_value: exactMatch DOID:5213 property_value: exactMatch http://identifiers.org/mesh/D020277 property_value: exactMatch http://identifiers.org/snomedct/128209004 property_value: exactMatch Orphanet:2932 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2760 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3697 xsd:anyURI [Term] id: EFO:1000869 name: chronic interstitial cystitis def: "A condition with recurring discomfort or pain in the URINARY BLADDER and the surrounding pelvic region without an identifiable disease. Severity of pain in interstitial cystitis varies greatly and often is accompanied by increased urination frequency and urgency." [] synonym: "chronic interstitial cystitis (disorder)" EXACT [] synonym: "chronic interstitial cystitis (disorder) [Ambiguous]" EXACT [] synonym: "chronic interstitial cystitis NOS (disorder)" EXACT [] synonym: "Cystitis, Interstitial" EXACT [] synonym: "Interstitial cystitis" EXACT [] xref: DOID:1678 xref: ICD9:595.1 xref: MedDRA:10008927 xref: MeSH:D018856 xref: SNOMEDCT:197834003 is_a: EFO:1000023 ! chronic cystitis relationship: has_modifier HP:0011010 ! Chronic property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000870 name: CNS demyelinating autoimmune disease def: "Conditions characterized by loss or dysfunction of myelin (see MYELIN SHEATH) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or OLIGODENDROGLIA associated autoantigens." [] def: "Conditions characterized by loss or dysfunction of myelin (see myelin sheath) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or oligodendroglia associated autoantigens." [MESH:D020278] synonym: "CNS demyelinating autoimmune disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Demyelinating Autoimmune Diseases, CNS" EXACT [] xref: DOID:641 xref: ICD10:G37 xref: MESH:D020278 {source="EFO:1000870", source="MONDO:equivalentTo"} xref: MeSH:D020278 xref: MONDO:0006704 is_a: EFO:0005140 ! autoimmune disease is_a: EFO:0005809 {source="EFO:1000870", source="MESH:D020278/inferred"} ! type II hypersensitivity reaction disease is_a: EFO:0009386 ! central nervous system disease property_value: exactMatch http://identifiers.org/mesh/D020278 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000871 name: colonic pseudo-obstruction def: "Functional obstruction of the COLON leading to MEGACOLON in the absence of obvious COLONIC DISEASES or mechanical obstruction. When this condition is acquired, acute, and coexisting with another medical condition (trauma, surgery, serious injuries or illness, or medication), it is called Ogilvie's syndrome." [] synonym: "Colonic Pseudo-Obstruction" EXACT [] synonym: "primary chronic pseudo-obstruction of colon (disorder)" EXACT [] xref: DOID:3876 xref: MedDRA:10024233 xref: MedDRA:10057078 xref: MeSH:D003112 is_a: EFO:1000988 ! intestinal pseudo-obstruction property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000872 name: commensal Bacteroidaceae infectious disease def: "Infections with bacteria of the family BACTEROIDACEAE." [MESH:D016866] synonym: "Bacteroidaceae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Bacteroidaceae disease or disorder" EXACT [] synonym: "Bacteroidaceae infection" RELATED [MESH:D016866] synonym: "Bacteroidaceae Infections" EXACT [] synonym: "Bacteroidaceae infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "infection, Bacteroidaceae" RELATED [MESH:D016866] synonym: "infections, Bacteroidaceae" RELATED [MESH:D016866] xref: DOID:4106 xref: MESH:D016866 {source="EFO:1000872", source="MONDO:equivalentTo"} xref: MeSH:D016866 xref: MONDO:0006705 xref: UMLS:C0085392 {source="MONDO:equivalentTo"} is_a: MONDO:0021678 {source="MESH:D016866"} ! gram-negative bacterial infections property_value: exactMatch http://identifiers.org/mesh/D016866 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085392 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000873 name: commensal Bifidobacteriales infectious disease def: "Infections with BACTERIA of the order Bifidobacteriales. This includes infections in the genera BIFIDOBACTERIUM and GARDNERELLA, in the family Bifidobacteriaceae." [MESH:D039941] synonym: "Bifidobacteriales caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Bifidobacteriales disease or disorder" EXACT [] synonym: "Bifidobacteriales infection" RELATED [MESH:D039941] synonym: "Bifidobacteriales Infections" EXACT [] synonym: "Bifidobacteriales infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "infection, Bifidobacteriales" RELATED [MESH:D039941] synonym: "infections, Bifidobacteriales" RELATED [MESH:D039941] xref: DOID:4200 xref: MESH:D039941 {source="MONDO:equivalentTo", source="EFO:1000873"} xref: MeSH:D039941 xref: MONDO:0006706 xref: UMLS:C1136339 {source="MONDO:equivalentTo"} is_a: EFO:0000771 {source="EFO:1000873", source="MESH:D039941/inferred", source="MONDO:Redundant"} ! bacterial disease property_value: exactMatch http://identifiers.org/mesh/D039941 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1136339 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000874 name: commensal Clostridium infectious disease def: "Infections with bacteria of the genus CLOSTRIDIUM." [] def: "Infections with bacteria of the genus clostridium." [MESH:D003015] synonym: "clostridial infection" EXACT [] synonym: "Clostridium infection" RELATED [MESH:D003015] synonym: "Clostridium Infections" EXACT [] synonym: "Clostridium infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "commensal Clostridium infection" RELATED [] synonym: "commensal infection, Clostridium" RELATED [] synonym: "commensal infections, Clostridium" RELATED [] synonym: "infection, Clostridium" RELATED [MESH:D003015] synonym: "infections, Clostridium" RELATED [MESH:D003015] xref: DOID:3584 xref: ICD9:040.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D003015 {source="MONDO:equivalentTo", source="EFO:1000874"} xref: MeSH:D003015 xref: MONDO:0024388 xref: SCTID:56688005 {source="MONDO:equivalentTo"} is_a: MONDO:0021679 {source="MESH:D003015"} ! gram-positive bacterial infections is_a: MONDO:0024389 ! anaerobic bacteria infectious disease property_value: exactMatch http://identifiers.org/mesh/D003015 property_value: exactMatch http://identifiers.org/snomedct/56688005 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000875 name: commensal Desulfovibrionaceae infectious disease def: "Infections with bacteria of the family Desulfovibrionaceae." [MESH:D045824] synonym: "Bilophila infection" RELATED [MESH:D045824] synonym: "Bilophila infections" RELATED [MESH:D045824] synonym: "commensal Bilophila infection" RELATED [] synonym: "Desulfovibrio infection" RELATED [MESH:D045824] synonym: "Desulfovibrio infections" RELATED [MESH:D045824] synonym: "Desulfovibrionaceae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Desulfovibrionaceae disease or disorder" EXACT [] synonym: "Desulfovibrionaceae infection" RELATED [MESH:D045824] synonym: "Desulfovibrionaceae Infections" EXACT [] synonym: "Desulfovibrionaceae infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "infection, Bilophila" RELATED [MESH:D045824] synonym: "infection, Desulfovibrio" RELATED [MESH:D045824] synonym: "infection, Desulfovibrionaceae" RELATED [MESH:D045824] synonym: "infection, Lawsonia" RELATED [MESH:D045824] synonym: "infections, Bilophila" RELATED [MESH:D045824] synonym: "infections, Desulfovibrio" RELATED [MESH:D045824] synonym: "infections, Desulfovibrionaceae" RELATED [MESH:D045824] synonym: "infections, Lawsonia" RELATED [MESH:D045824] synonym: "Lawsonia infection" RELATED [MESH:D045824] synonym: "Lawsonia infections" RELATED [MESH:D045824] xref: DOID:3636 xref: MESH:D045824 {source="MONDO:equivalentTo", source="EFO:1000875"} xref: MeSH:D045824 xref: MONDO:0006708 is_a: MONDO:0021678 {source="MESH:D045824"} ! gram-negative bacterial infections property_value: exactMatch http://identifiers.org/mesh/D045824 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000876 name: common bile duct neoplasm def: "Tumor or cancer of the common bile duct including the ampulla of vater and the sphincter of oddi." [MESH:D003138] synonym: "common bile duct neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "common bile duct neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "common bile duct neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "common bile duct tumor" EXACT [MONDO:patterns/neoplasm] synonym: "common bile duct tumour" EXACT OMO:0003005 [] synonym: "neoplasm of common bile duct" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of common bile duct" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of common bile duct" EXACT OMO:0003005 [] xref: DOID:4608 {source="MONDO:equivalentTo", source="EFO:1000876"} xref: EFO:1000876 {source="MONDO:equivalentTo"} xref: MESH:D003138 {source="MONDO:equivalentTo", source="EFO:1000876", source="DOID:4608"} xref: MONDO:0006709 xref: SCTID:126857009 {source="MONDO:equivalentTo", source="EFO:1000876", source="DOID:4608"} xref: UMLS:C0009442 {source="MONDO:equivalentTo", source="DOID:4608"} is_a: MONDO:0002886 {source="MESH:D003138", source="MONDO:Redundant"} ! common bile duct disorder is_a: MONDO:0021385 {source="MONDO:Redundant"} ! extrahepatic bile duct neoplasm property_value: exactMatch DOID:4608 property_value: exactMatch DOID:4608 property_value: exactMatch http://identifiers.org/mesh/D003138 property_value: exactMatch http://identifiers.org/mesh/D003138 property_value: exactMatch http://identifiers.org/snomedct/126857009 property_value: exactMatch http://identifiers.org/snomedct/126857009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009442 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009442 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/neoplasm.yaml [Term] id: EFO:1000877 name: complex partial epilepsy def: "A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and AUTOMATISM may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8)" [] def: "A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and automatism may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8)" [MESH:D017029] synonym: "complex partial epilepsy" EXACT [] {comment="preferred label from MONDO"} synonym: "Complex partial epileptic seizure" EXACT [DOID:12382] synonym: "Epilepsy, Complex Partial" EXACT [] synonym: "epilepsy, psychomotor" EXACT [DOID:12382] synonym: "Psychomotor epilepsy" EXACT [] synonym: "psychomotor epilepsy" EXACT [DOID:12382] synonym: "Psychomotor epilepsy (disorder)" EXACT [] xref: DOID:12382 {source="MONDO:equivalentTo", source="EFO:1000877"} xref: ICD9:345.40 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D017029 {source="DOID:12382", source="MONDO:equivalentTo", source="EFO:1000877"} xref: MeSH:D017029 xref: MONDO:0006710 xref: SCTID:407675009 {source="DOID:12382", source="MONDO:equivalentTo"} xref: UMLS:C0085417 {source="DOID:12382", source="MONDO:equivalentTo"} is_a: EFO:0004263 {source="DOID:12382", source="EFO:1000877", source="MESH:D017029"} ! partial epilepsy property_value: exactMatch DOID:12382 property_value: exactMatch http://identifiers.org/mesh/D017029 property_value: exactMatch http://identifiers.org/snomedct/407675009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085417 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1000878 name: constrictive pericarditis def: "A heart disorder in which the pericardial sac becomes thickened and fibrotic, tightening the myocardium and impeding the normal myocardial function." [NCIT:P378] def: "Inflammation of the PERICARDIUM that is characterized by the fibrous scarring and adhesion of both serous layers, the VISCERAL PERICARDIUM and the PARIETAL PERICARDIUM leading to the loss of pericardial cavity. The thickened pericardium severely restricts cardiac filling. Clinical signs include FATIGUE, muscle wasting, and WEIGHT LOSS." [] synonym: "Constrictive pericarditis" EXACT [] synonym: "constrictive pericarditis" EXACT [DOID:11481, ICD9CM:423.2, MONDO:ambiguous] synonym: "constrictive pericarditis" EXACT [] {comment="preferred label from MONDO"} synonym: "constrictive pericarditis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Constrictive pericarditis (disorder)" EXACT [] synonym: "Constrictive pericarditis NOS (disorder)" EXACT [] synonym: "Pericarditis, Constrictive" EXACT [] xref: DOID:11481 {source="MONDO:equivalentTo", source="EFO:1000878"} xref: HP:0002563 {source="MONDO:otherHierarchy"} xref: ICD9:423.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11481", source="EFO:1000878"} xref: MedDRA:10010783 {source="EFO:1000878"} xref: MESH:D010494 {source="MONDO:equivalentTo", source="DOID:11481", source="EFO:1000878"} xref: MeSH:D010494 xref: MONDO:0006711 xref: NCIT:C78246 {source="MONDO:equivalentTo", source="DOID:11481", source="EFO:1000878"} xref: NCIt:C78246 xref: SCTID:85598007 {source="MONDO:equivalentTo", source="DOID:11481", source="EFO:1000878"} xref: SNOMEDCT:85598007 xref: UMLS:C0031048 {source="MONDO:equivalentTo", source="NCIT:C78246", source="DOID:11481"} is_a: EFO:0007427 {source="DOID:11481", source="EFO:1000878", source="MESH:D010494", source="NCIT:C78246"} ! pericarditis property_value: closeMatch http://identifiers.org/meddra/10010783 property_value: exactMatch DOID:11481 property_value: exactMatch http://identifiers.org/mesh/D010494 property_value: exactMatch http://identifiers.org/snomedct/85598007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031048 property_value: exactMatch NCIT:C78246 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000589 "constrictive pericarditis (disease)" xsd:string [Term] id: EFO:1000879 name: corneal edema def: "An excessive amount of fluid in the cornea due to damage of the epithelium or endothelium causing decreased visual acuity." [] def: "Hazy, swollen cornea." [NCIT:P378] synonym: "cornea edema" EXACT [] synonym: "CORNEAL EDEMA" EXACT [] synonym: "Corneal Edema" EXACT [] synonym: "corneal edema" EXACT [DOID:11030] synonym: "corneal edema" EXACT [] {comment="preferred label from MONDO"} synonym: "Corneal edema (disorder)" EXACT [] synonym: "Corneal edema NOS (disorder)" EXACT [] synonym: "Corneal edema, unspecified" EXACT [] synonym: "Corneal oedema" EXACT [] synonym: "Corneal oedema [Ambiguous]" EXACT [] synonym: "Unspecified corneal edema (disorder)" EXACT [] xref: DOID:11030 {source="MONDO:equivalentTo", source="EFO:1000879"} xref: ICD9:371.2 {source="DOID:11030", source="EFO:1000879"} xref: ICD9:371.20 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11030"} xref: MedDRA:10011007 {source="EFO:1000879"} xref: MedDRA:1001MedDRA\:1007 xref: MedDRA:1001MedDRA\:1009 xref: MESH:D015715 {source="MONDO:equivalentTo", source="DOID:11030", source="EFO:1000879"} xref: MeSH:D015715 xref: MONDO:0006712 xref: NCIt:C50508 xref: SCTID:27194006 {source="MONDO:equivalentTo", source="DOID:11030", source="EFO:1000879"} xref: SNOMEDCT:27194006 xref: UMLS:C0010037 {source="MONDO:equivalentTo", source="DOID:11030"} is_a: EFO:0009464 {source="DOID:11030", source="MESH:D015715"} ! corneal disease property_value: closeMatch http://identifiers.org/meddra/10011007 property_value: exactMatch DOID:11030 property_value: exactMatch http://identifiers.org/mesh/D015715 property_value: exactMatch http://identifiers.org/snomedct/27194006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010037 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000880 name: corneal neovascularization def: "New blood vessels originating from the corneal veins and extending from the limbus into the adjacent CORNEAL STROMA. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as TRACHOMA, viral interstitial KERATITIS, microbial KERATOCONJUNCTIVITIS, and the immune response elicited by CORNEAL TRANSPLANTATION." [] def: "New blood vessels originating from the corneal veins and extending from the limbus into the adjacent corneal stroma. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as trachoma, viral interstitial keratitis, microbial keratoconjunctivitis, and the immune response elicited by corneal transplantation." [MESH:D016510] synonym: "Corneal Neovascularization" EXACT [] synonym: "Corneal neovascularization" EXACT [] synonym: "corneal neovascularization" EXACT [] {comment="preferred label from MONDO"} synonym: "Corneal neovascularization (disorder)" EXACT [] synonym: "Corneal neovascularization NOS (disorder)" EXACT [] synonym: "Corneal neovascularization, unspecified" EXACT [] synonym: "Unspecified corneal neovascularization (disorder)" EXACT [] xref: DOID:11382 {source="EFO:1000880", source="MONDO:equivalentTo"} xref: ICD9:370.6 {source="EFO:1000880", source="DOID:11382"} xref: ICD9:370.60 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11382"} xref: MedDRA:10011031 {source="EFO:1000880"} xref: MedDRA:10011032 xref: MESH:D016510 {source="EFO:1000880", source="MONDO:equivalentTo", source="DOID:11382"} xref: MeSH:D016510 xref: MONDO:0006713 xref: SCTID:19161004 {source="EFO:1000880", source="MONDO:equivalentTo", source="DOID:11382"} xref: SNOMEDCT:19161004 xref: UMLS:C0085109 {source="MONDO:equivalentTo", source="DOID:11382"} is_a: EFO:0009449 {source="DOID:11382"} ! keratitis property_value: closeMatch http://identifiers.org/meddra/10011031 property_value: exactMatch DOID:11382 property_value: exactMatch http://identifiers.org/mesh/D016510 property_value: exactMatch http://identifiers.org/snomedct/19161004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085109 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000881 name: coronary aneurysm def: "Abnormal balloon- or sac-like dilatation in the wall of CORONARY VESSELS. Most coronary aneurysms are due to CORONARY ATHEROSCLEROSIS, and the rest are due to inflammatory diseases, such as KAWASAKI DISEASE." [] def: "Abnormal balloon- or sac-like dilatation in the wall of coronary vessels. Most coronary aneurysms are due to coronary atherosclerosis, and the rest are due to inflammatory diseases, such as kawasaki disease." [MESH:D003323] synonym: "Aneurysm of coronary vessels" EXACT [] synonym: "aneurysm of coronary vessels" EXACT [DOID:3362, ICD9CM:414.11] synonym: "Aneurysmal lesion of coronary artery" EXACT [] synonym: "aneurysmal lesion of coronary artery" EXACT [DOID:3362] synonym: "Arteriovenous aneurysm of coronary vessels" EXACT [] synonym: "arteriovenous aneurysm of coronary vessels" EXACT [DOID:3362] synonym: "Coronary Aneurysm" EXACT [] synonym: "coronary aneurysm" EXACT [] {comment="preferred label from MONDO"} synonym: "coronary artery aneurysm" RELATED [GARD:0006200] xref: DOID:3362 {source="EFO:1000881", source="MONDO:equivalentTo"} xref: HP:0030882 xref: ICD10:I25.4 xref: ICD9:414.11 {source="EFO:1000881", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:3362"} xref: MedDRA:10002348 {source="EFO:1000881"} xref: MESH:D003323 {source="EFO:1000881", source="MONDO:equivalentTo", source="DOID:3362"} xref: MeSH:D003323 xref: MONDO:0006714 xref: SCTID:50570003 {source="EFO:1000881", source="MONDO:equivalentTo", source="DOID:3362"} xref: SNOMEDCT:50570003 xref: UMLS:C0010051 {source="MONDO:equivalentTo", source="DOID:3362"} is_a: EFO:0001645 {source="https://orcid.org/0000-0001-5208-3432"} ! coronary artery disease property_value: closeMatch http://identifiers.org/meddra/10002348 property_value: exactMatch DOID:3362 property_value: exactMatch http://identifiers.org/mesh/D003323 property_value: exactMatch http://identifiers.org/snomedct/50570003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010051 property_value: excluded_subClassOf MONDO:0006779 {source="DOID:3362"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000882 name: obsolete_coronary stenosis def: "Narrowing or constriction of a coronary artery." [] synonym: "Coronary artery stenosis (disorder)" EXACT [] synonym: "Coronary Stenosis" EXACT [] xref: DOID:4248 xref: MedDRA:10011089 xref: MeSH:D023921 xref: NCIt:C80427 xref: SNOMEDCT:251030009 property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.47.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replaced by Mondo term.\nSee: https://github.com/EBISPOT/efo/issues/1750\nUse: http://purl.obolibrary.org/obo/MONDO_0006715" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/MONDO_0006715 [Term] id: EFO:1000883 name: coronary thrombosis def: "Coagulation of blood in any of the CORONARY VESSELS. The presence of a blood clot (THROMBUS) often leads to MYOCARDIAL INFARCTION." [] def: "Coagulation of blood in any of the coronary vessels. The presence of a blood clot (thrombus) often leads to myocardial infarction." [MESH:D003328] synonym: "coronary artery thrombosis" EXACT [DOID:11847] synonym: "Coronary artery thrombosis (disorder)" EXACT [] synonym: "Coronary Thrombosis" EXACT [] synonym: "coronary thrombosis" EXACT [] {comment="preferred label from MONDO"} synonym: "coronary vessel thrombotic disease" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "thrombotic disease of coronary vessel" EXACT [MONDO:design_pattern] xref: DOID:11847 {source="EFO:1000883", source="MONDO:equivalentTo"} xref: ICD10CM:I21 {source="MONDO:relatedTo", source="DOID:11847"} xref: ICD10CM:I22 {source="MONDO:relatedTo", source="DOID:11847"} xref: MedDRA:10011108 {source="EFO:1000883"} xref: MESH:D003328 {source="EFO:1000883", source="MONDO:equivalentTo", source="DOID:11847"} xref: MeSH:D003328 xref: MONDO:0006716 xref: SCTID:398274000 {source="EFO:1000883", source="MONDO:equivalentTo", source="DOID:11847"} xref: SNOMEDCT:398274000 xref: UMLS:C0010072 {source="MONDO:equivalentTo", source="DOID:11847"} is_a: EFO:0001645 {source="DOID:11847", source="EFO:1000883", source="EFO:1000883/inferred"} ! coronary artery disease is_a: MONDO:0000831 {source="DOID:11847", source="MESH:D003328", source="MONDO:Redundant"} ! thrombotic disease property_value: closeMatch http://identifiers.org/meddra/10011108 property_value: exactMatch DOID:11847 property_value: exactMatch http://identifiers.org/mesh/D003328 property_value: exactMatch http://identifiers.org/snomedct/398274000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010072 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: relatedMatch http://purl.bioontology.org/ontology/ICD10CM/I22 [Term] id: EFO:1000884 name: cranial nerve malignant neoplasm def: "Abnormal malignant growth of the cells that comprise the cranial nerve." [NCIT:C3571] def: "Benign and malignant neoplasms that arise from one or more of the twelve cranial nerves." [] synonym: "cancer of cranial nerve" EXACT [MONDO:patterns/cancer] synonym: "cranial nerve cancer" EXACT [MONDO:patterns/location] synonym: "cranial nerve malignant neoplasm" RELATED [DOID:2815] synonym: "cranial nerve neoplasm, malignant" EXACT [NCIT:C3571] synonym: "Cranial Nerve Neoplasms" EXACT [] synonym: "malignant cranial nerve neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3571] synonym: "malignant cranial nerve neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "malignant cranial nerve tumor" EXACT [NCIT:C3571] synonym: "malignant cranial nerve tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of cranial nerve" EXACT [DOID:2815, MONDO:patterns/cancer, NCIT:C3571] synonym: "malignant neoplasm of cranial nerves" EXACT [DOID:2815, ICD9CM:192.0] synonym: "malignant neoplasm of cranial nerves NOS (disorder)" EXACT [] synonym: "malignant neoplasm of the cranial nerve" EXACT [NCIT:C3571] synonym: "malignant tumor of cranial nerve" EXACT [NCIT:C3571] synonym: "malignant tumor of cranial nerve (disorder)" EXACT [] synonym: "malignant tumor of the Cranial nerve" EXACT [] synonym: "malignant tumor of the cranial nerve" EXACT [DOID:2815, NCIT:C3571] synonym: "malignant tumour of cranial nerve" EXACT OMO:0003005 [] synonym: "malignant tumour of the cranial nerve" EXACT OMO:0003005 [] xref: DOID:2815 {source="MONDO:equivalentTo"} xref: ICD9:192.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2815"} xref: MedDRA:10025873 xref: MedDRA:10061238 xref: MeSH:D003390 xref: MONDO:0002433 xref: NCIT:C3571 {source="MONDO:equivalentTo", source="DOID:2815"} xref: SCTID:188307009 {source="MONDO:equivalentTo", source="DOID:2815"} xref: UMLS:C0153644 {source="NCIT:C3571", source="MONDO:equivalentTo", source="DOID:2815"} is_a: EFO:0003833 ! brain neoplasm is_a: EFO:0006859 ! head and neck malignant neoplasia is_a: MONDO:0002633 {source="DOID:2815", source="MONDO:Redundant", source="NCIT:C3571"} ! cranial nerve neoplasm is_a: MONDO:0021089 ! peripheral nervous system cancer property_value: exactMatch DOID:2815 property_value: exactMatch http://identifiers.org/snomedct/188307009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153644 property_value: exactMatch NCIT:C3571 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000885 name: cutaneous fibrous histiocytoma def: "A benign, intermediate, or malignant mesenchymal neoplasm composed of fibrohistiocytic cells, spindle fibroblastic cells, and histiocytes, in a storiform pattern." [NCIT:P378] synonym: "benign cutaneous fibrous histiocytoma" EXACT [DOID:4418, NCIT:C6801] synonym: "benign fibrous cutaneous histiocytoma" EXACT [NCIT:C6801] synonym: "benign fibrous histiocytoma of skin" EXACT [NCIT:C6801] synonym: "benign fibrous histiocytoma of the skin" EXACT [NCIT:C6801] synonym: "benign skin fibrous histiocytoma" EXACT [NCIT:C6801] synonym: "cutaneous fibrous histiocytoma" EXACT [] {comment="preferred label from MONDO"} synonym: "cutaneous fibrous histiocytoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "cutaneous fibrous histiocytoma" EXACT [NCIT:C6801] synonym: "dermatofibroma" EXACT [DOID:4418, NCIT:C6801] synonym: "dermatofibroma" EXACT [CSP2005:2004-1029, DOID:4418, NCIT:C6801] synonym: "dermatofibroma, no ICD-O subtype" EXACT [DOID:4418] synonym: "dermatofibroma, no ICD-O subtype (morphologic abnormality)" EXACT [DOID:4418] synonym: "DF" RELATED ABBREVIATION [ONCOTREE:DF] synonym: "fibrohistiocytic neoplasm" EXACT [DOID:4418, NCIT:C8402] synonym: "fibrohistiocytic tumor" EXACT [DOID:4418] synonym: "fibrohistiocytic tumor" RELATED [DOID:4418] synonym: "fibrohistiocytic tumour" RELATED OMO:0003005 [] synonym: "fibrous histiocytoma of skin" EXACT [NCIT:C6801] synonym: "fibrous histiocytoma of the skin" EXACT [NCIT:C6801] synonym: "fibrous xanthoma of skin" EXACT [DOID:4418] synonym: "pleomorphic fibroma" EXACT [DOID:4418] synonym: "pleomorphic fibroma" RELATED [DOID:4418] synonym: "sclerosing angioma" EXACT [DOID:4418] synonym: "sclerosing angioma (morphologic abnormality)" EXACT [DOID:4418] synonym: "sclerosing angioma of skin" EXACT [DOID:4418] xref: DOID:4418 {source="MONDO:equivalentTo", source="EFO:1000885"} xref: EFO:1000885 {source="MONDO:equivalentTo"} xref: ICDO:8832/0 {source="NCIT:C6801"} xref: MONDO:0006717 xref: NCIT:C6801 {source="MONDO:equivalentTo", source="EFO:1000885", source="DOID:4418"} xref: ONCOTREE:DF {source="MONDO:equivalentTo"} xref: SCTID:448015002 {source="MONDO:equivalentTo", source="DOID:4418"} xref: UMLS:C0002991 {source="MONDO:equivalentTo", source="NCIT:C6801", source="DOID:4418"} xref: UMLS:C0346049 {source="MONDO:equivalentTo", source="DOID:4418"} is_a: MONDO:0002300 {source="DOID:4418", source="MONDO:Redundant", source="NCIT:C6801/inferred"} ! dermis tumor is_a: MONDO:0002989 {source="NCIT:C6801"} ! benign fibrous histiocytoma property_value: closeMatch http://identifiers.org/snomedct/134302009 property_value: closeMatch http://identifiers.org/snomedct/189051001 property_value: closeMatch http://identifiers.org/snomedct/254749001 property_value: closeMatch http://identifiers.org/snomedct/254750001 property_value: closeMatch http://identifiers.org/snomedct/254753004 property_value: closeMatch http://identifiers.org/snomedct/302843004 property_value: closeMatch http://identifiers.org/snomedct/403997008 property_value: closeMatch http://identifiers.org/snomedct/403999006 property_value: closeMatch http://identifiers.org/snomedct/427186000 property_value: closeMatch http://identifiers.org/snomedct/72079004 property_value: closeMatch NCIT:C8402 property_value: exactMatch DOID:4418 property_value: exactMatch DOID:4418 property_value: exactMatch http://identifiers.org/snomedct/448015002 property_value: exactMatch http://identifiers.org/snomedct/448015002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002991 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002991 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346049 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346049 property_value: exactMatch NCIT:C6801 property_value: exactMatch NCIT:C6801 [Term] id: EFO:1000886 name: cutaneous mastocytosis def: "Cutaneous mastocytosis is a term referring to a group of diseases characterized by abnormal accumulation and proliferation of skin mastocytes. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis." [Orphanet:66646] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:66646"} synonym: "CM" EXACT ABBREVIATION [DOID:3663, NCIT:C7137] synonym: "CMCD" RELATED ABBREVIATION [ONCOTREE:CMCD] synonym: "cutaneous (skin) mastocytosis" EXACT [NCIT:C7137] synonym: "cutaneous mastocytosis" EXACT [] {comment="preferred label from MONDO"} synonym: "cutaneous mastocytosis" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "cutaneous mastocytosis" EXACT [MONDO:ambiguous, NCIT:C7137] synonym: "cutaneous mastocytosis (disease)" EXACT [MONDO:0002723] synonym: "mastocytosis, cutaneous" EXACT [OMIM:154800, OMIM:genemap2] synonym: "mastocytosis, systemic, somatic" EXACT [OMIM:154800, OMIM:genemap2] xref: DOID:3663 {source="MONDO:equivalentTo"} xref: EFO:1000886 {source="MONDO:equivalentTo"} xref: GARD:0007842 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0200151 {source="MONDO:otherHierarchy"} xref: ICD10:Q82.2 {source="MONDO:subClassOf", source="ORDO:66646/e", source="Orphanet:66646"} xref: ICDO:9740/1 {source="NCIT:C7137"} xref: MESH:D034701 {source="ORDO:66646/e", source="DOID:3663", source="Orphanet:66646", source="MONDO:equivalentTo"} xref: MESH:D034701 {source="DOID:3663", source="Orphanet:66646", source="MONDO:equivalentTo", source="Orphanet:66646/e"} xref: MONDO:0019023 xref: NCIT:C7137 {source="DOID:3663", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C7137 {source="DOID:3663", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: OMIM:154800 {source="MONDO:equivalentTo"} xref: ONCOTREE:CMCD {source="MONDO:equivalentTo"} xref: Orphanet:66646 {source="MONDO:equivalentTo"} xref: SCTID:397012002 {source="DOID:3663", source="MONDO:equivalentTo"} xref: UMLS:C1136033 {source="DOID:3663", source="Orphanet:66646", source="MONDO:equivalentTo", source="NCIT:C7137", source="Orphanet:66646/e"} xref: UMLS:C1136033 {source="ORDO:66646/e", source="DOID:3663", source="Orphanet:66646", source="MONDO:equivalentTo", source="NCIT:C7137"} is_a: EFO:0005531 {source="Orphanet:66646"} ! urticaria is_a: EFO:0009001 {source="DOID:3663", source="MESH:D034701", source="NCIT:C7137", source="ONCOTREE:CMCD", source="Orphanet:66646"} ! Mastocytosis is_a: MONDO:0002300 {source="MONDO:Entailed", source="NCIT:C7137"} ! dermis tumor is_a: MONDO:0100118 ! hereditary skin disorder is_a: Orphanet:183487 ! Genetic skin tumor property_value: closeMatch http://identifiers.org/snomedct/703827008 property_value: exactMatch DOID:3663 property_value: exactMatch DOID:3663 property_value: exactMatch http://identifiers.org/mesh/D034701 property_value: exactMatch http://identifiers.org/mesh/D034701 property_value: exactMatch http://identifiers.org/snomedct/397012002 property_value: exactMatch http://identifiers.org/snomedct/397012002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1136033 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1136033 property_value: exactMatch https://omim.org/entry/154800 property_value: exactMatch NCIT:C7137 property_value: exactMatch NCIT:C7137 property_value: exactMatch Orphanet:66646 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: EFO:1000887 name: cutaneous syphilis def: "Cutaneous lesions arising from infection with Treponema pallidum. In the primary stage, 18-21 days following infection, one or more chancres appear. If untreated, the subsequent stages of the disease appear as syphilids. These eruptions are superficial, nondestructive, exanthematic, transient, macular roseolas that may later be maculopapular or papular polymorphous or scaly, pustular, pigmented eruptions.(Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p409)" [MESH:D013591] synonym: "cutaneous syphilis" EXACT [] {comment="preferred label from MONDO"} synonym: "Syphilis, Cutaneous" EXACT [] synonym: "Syphilitic skin disorder" EXACT [] synonym: "Treponema pallidum caused skin disease caused by bacterial infection" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Treponema pallidum skin disease caused by bacterial infection" EXACT [] xref: DOID:5000 xref: ICD10:A50.06 xref: MESH:D013591 {source="MONDO:equivalentTo", source="EFO:1000887"} xref: MeSH:D013591 xref: MONDO:0006718 is_a: EFO:0007504 {source="EFO:1000887", source="MESH:D013591", source="MONDO:Redundant"} ! syphilis is_a: MONDO:0024295 {source="MESH:D013591", source="MONDO:Redundant"} ! skin disease caused by bacterial infection property_value: exactMatch http://identifiers.org/mesh/D013591 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000888 name: cystic lymphangioma def: "A benign lymphatic neoplasm usually arising from the neck and characterized by cystic dilation of the lymphatic vessels." [NCIT:C3724] subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:79486"} synonym: "cystic hygroma" EXACT [DOID:3081, NCIT:C3724] synonym: "cystic hygroma" EXACT [] {comment="preferred label from MONDO"} synonym: "cystic hygroma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "cystic hygroma, fetal" RELATED [OMIM:257350] synonym: "cystic hygroma, foetal" RELATED OMO:0003005 [] synonym: "cystic lymphangioma" EXACT [GARD:0006234, NCIT:C3724] synonym: "hygroma" EXACT [NCIT:C3724] synonym: "macrocystic lymphatic malformation" RELATED [GARD:0006234] synonym: "nuchal bleb, familial" RELATED [OMIM:257350] xref: DOID:3081 {source="MONDO:equivalentTo", source="EFO:1000888"} xref: EFO:1000888 {source="MONDO:equivalentTo"} xref: GARD:0006234 {source="MONDO:equivalentTo"} xref: ICD10:D18.1 {source="ORDO:79486/ntbt", source="Orphanet:79486"} xref: ICDO:9173/0 {source="NCIT:C3724"} xref: MedDRA:10058949 {source="EFO:1000888"} xref: MESH:D018191 {source="MONDO:equivalentTo", source="DOID:3081", source="EFO:1000888"} xref: MONDO:0009761 xref: NCIT:C3724 {source="MONDO:equivalentTo", source="DOID:3081"} xref: OMIM:257350 {source="MONDO:equivalentTo", source="ORDO:79486/e", source="Orphanet:79486", source="GARD:0006234"} xref: OMIM:257350 {source="Orphanet:79486/e", source="MONDO:equivalentTo", source="Orphanet:79486", source="GARD:0006234"} xref: Orphanet:79486 {source="OMIM:257350", source="MONDO:equivalentObsolete"} xref: Orphanet:79486 {source="OMIM:257350", source="MONDO:equivalentTo"} xref: SCTID:399882002 {source="MONDO:equivalentTo", source="DOID:3081"} is_a: MONDO:0018720 {source="Orphanet:79486"} ! common cystic lymphatic malformation property_value: closeMatch http://identifiers.org/meddra/10058949 property_value: closeMatch http://identifiers.org/meddra/10058949 property_value: closeMatch http://identifiers.org/snomedct/40225001 property_value: closeMatch http://identifiers.org/snomedct/423984004 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0206620 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0948242 property_value: closeMatch Orphanet:137923 property_value: exactMatch DOID:3081 property_value: exactMatch DOID:3081 property_value: exactMatch http://identifiers.org/mesh/D018191 property_value: exactMatch http://identifiers.org/mesh/D018191 property_value: exactMatch http://identifiers.org/omim/257350 property_value: exactMatch http://identifiers.org/snomedct/399882002 property_value: exactMatch http://identifiers.org/snomedct/399882002 property_value: exactMatch https://omim.org/entry/257350 property_value: exactMatch NCIT:C3724 property_value: exactMatch NCIT:C3724 [Term] id: EFO:1000889 name: cystic, mucinous, and serous neoplasm def: "Neoplasms containing cyst-like formations or producing mucin or serum." [MESH:D018297] synonym: "cystic, mucinous, and serous neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "cystic, mucinous, and serous neoplasm" EXACT [] {comment="preferred label from MONDO"} xref: EFO:1000889 {source="MONDO:equivalentTo"} xref: MESH:D018297 {source="MONDO:equivalentTo", source="EFO:1000889"} xref: MONDO:0006720 is_a: EFO:0006858 {source="MESH:D018297"} ! epithelial neoplasm property_value: closeMatch DOID:164 property_value: closeMatch http://identifiers.org/snomedct/115217007 property_value: exactMatch http://identifiers.org/mesh/D018297 property_value: exactMatch http://identifiers.org/mesh/D018297 [Term] id: EFO:1000890 name: Dandy-Walker syndrome def: "A congenital abnormality of the central nervous system marked by failure of the midline structures of the cerebellum to develop, dilation of the fourth ventricle, and upward displacement of the transverse sinuses, tentorium, and torcula. Clinical features include occipital bossing, progressive head enlargement, bulging of anterior fontanelle, papilledema, ataxia, gait disturbances, nystagmus, and intellectual compromise. (From Menkes, Textbook of Child Neurology, 5th ed, pp294-5)" [] def: "Dandy-Walker malformation (DWM) is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia." [Orphanet:217] subset: ordo_morphological_anomaly {source="Orphanet:217"} synonym: "(Atresia of foramina of Magendie + Luschka) or (Dandy - Walker syndrome)" EXACT [] synonym: "Atresia of foramina of Magendie and Luschka" EXACT [] synonym: "atresia of foramina of Magendie and Luschka" EXACT [DOID:2785] synonym: "Dandy-Walker complex" RELATED [GARD:0006242] synonym: "Dandy-Walker malformation" RELATED [OMIM:220200] synonym: "Dandy-Walker Syndrome" EXACT [] synonym: "Dandy-Walker syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Dandy-Walker syndrome" EXACT [MONDO:Lexical, OMIM:220200] synonym: "Dandy-Walker syndrome (disorder)" EXACT [] synonym: "Dandy-Walker syndrome or malformation (type of DW complex)" RELATED [GARD:0006242] synonym: "Dandy-Walker syndrome, Isolated cases" EXACT [OMIM:220200, OMIM:genemap2] synonym: "Dandy-Walker variant (type of DW complex)" RELATED [GARD:0006242] synonym: "DW complex" RELATED [GARD:0006242] synonym: "DWS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:220200] synonym: "isolated Dandy-Walker malformation" RELATED [Orphanet:217] synonym: "mega cisterna magna (type of DW complex)" RELATED [GARD:0006242] xref: DOID:2785 {source="EFO:1000890", source="MONDO:equivalentTo"} xref: MedDRA:10048411 {source="EFO:1000890"} xref: MESH:D003616 {source="EFO:1000890", source="DOID:2785", source="MONDO:equivalentTo"} xref: MeSH:D003616 xref: MONDO:0009072 xref: NCIT:C75012 {source="DOID:2785", source="MONDO:equivalentTo"} xref: OMIM:220200 {source="DOID:2785", source="Orphanet:217", source="MONDO:equivalentTo", source="Orphanet:217/e"} xref: Orphanet:217 {source="MONDO:equivalentTo", source="OMIM:220200"} xref: SCTID:14447001 {source="EFO:1000890", source="DOID:2785", source="MONDO:equivalentTo"} xref: SNOMEDCT:14447001 xref: UMLS:C0010964 {source="DOID:2785", source="Orphanet:217", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C75012", source="OMIM:220200"} is_a: MONDO:0002427 {source="DOID:2785", source="MESH:D003616"} ! cerebellar disorder is_a: MONDO:0020130 {source="Orphanet:217"} ! malformation of the cerebellar vermis is_a: MONDO:0020134 {source="Orphanet:217"} ! cystic malformation of the posterior fossa property_value: closeMatch http://identifiers.org/meddra/10048411 property_value: exactMatch DOID:2785 property_value: exactMatch http://identifiers.org/mesh/D003616 property_value: exactMatch http://identifiers.org/snomedct/14447001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010964 property_value: exactMatch https://omim.org/entry/220200 property_value: exactMatch NCIT:C75012 property_value: exactMatch Orphanet:217 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: EFO:1000891 name: De Quervain disease def: "Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to OVERUSE INJURY or is associated with RHEUMATOID ARTHRITIS." [] def: "Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to overuse injury or is associated with rheumatoid arthritis." [MESH:D053684] synonym: "De Quervain Disease" EXACT [] synonym: "de Quervain disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Radial styloid tenosynovitis" EXACT [] synonym: "radial styloid tenosynovitis" EXACT [DOID:14107, ICD9CM:727.04] synonym: "Tenosynovitis, de Quervain's" EXACT [] synonym: "tenosynovitis, de Quervain's" EXACT [DOID:14107] xref: DOID:14107 {source="EFO:1000891", source="MONDO:equivalentTo"} xref: ICD9:727.04 {source="DOID:14107", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D053684 {source="DOID:14107", source="EFO:1000891", source="MONDO:equivalentTo"} xref: MeSH:D053684 xref: MONDO:0006721 xref: SCTID:21794005 {source="DOID:14107", source="MONDO:equivalentTo"} xref: UMLS:C0149870 {source="DOID:14107", source="MONDO:equivalentTo"} is_a: EFO:0004260 ! bone disease is_a: EFO:1000999 {source="DOID:14107"} ! joint disease property_value: exactMatch DOID:14107 property_value: exactMatch http://identifiers.org/mesh/D053684 property_value: exactMatch http://identifiers.org/snomedct/21794005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149870 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1000892 name: dental fluorosis def: "A chronic endemic form of hypoplasia of the dental enamel caused by drinking water with a high fluorine content during the time of tooth formation, and characterized by defective calcification that gives a white chalky appearance to the enamel, which gradually undergoes brown discoloration. (Jablonski's Dictionary of Dentistry, 1992, p286)" [] def: "A condition that results from excessive fluoride ingestion during tooth development, resulting in tooth discoloration ranging from white streaks to brown stains and cracks or pits in the tooth enamel." [NCIT:P378] synonym: "dental fluorosis" EXACT [] {comment="preferred label from MONDO"} synonym: "fluorosis" EXACT [NCIT:C85059] synonym: "Fluorosis, Dental" EXACT [] synonym: "Intrinsic enamel discolouration of fluorosis" EXACT [] synonym: "intrinsic enamel discolouration of fluorosis" EXACT [DOID:13711] synonym: "Mottled teeth" EXACT [] synonym: "mottled teeth" EXACT [DOID:13711, ICD9CM:520.3] synonym: "Mottling of enamel" EXACT [] synonym: "mottling of enamel" EXACT [DOID:13711] xref: DOID:13711 {source="EFO:1000892", source="MONDO:equivalentTo"} xref: ICD10CM:K00.3 {source="DOID:13711", source="MONDO:equivalentTo"} xref: ICD9:520.3 {source="DOID:13711"} xref: MedDRA:10016819 {source="EFO:1000892"} xref: MESH:D009050 {source="DOID:13711", source="EFO:1000892", source="MONDO:equivalentTo"} xref: MeSH:D009050 xref: MONDO:0006722 xref: NCIT:C85059 {source="DOID:13711", source="EFO:1000892", source="MONDO:equivalentTo"} xref: NCIt:C85059 xref: SCTID:30265004 {source="DOID:13711", source="EFO:1000892", source="MONDO:equivalentTo"} xref: SNOMEDCT:30265004 xref: UMLS:C0026618 {source="DOID:13711", source="MONDO:equivalentTo", source="NCIT:C85059"} is_a: EFO:1001216 {source="DOID:13711", source="EFO:1000892", source="MESH:D009050", source="NCIT:C85059/inferred"} ! tooth disease property_value: closeMatch http://identifiers.org/meddra/10016819 property_value: exactMatch DOID:13711 property_value: exactMatch http://identifiers.org/mesh/D009050 property_value: exactMatch http://identifiers.org/snomedct/30265004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026618 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K00.3 property_value: exactMatch NCIT:C85059 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1000893 name: denture stomatitis def: "Inflammation of the mouth due to denture irritation." [MESH:D013282] synonym: "Denture sore mouth" EXACT [] synonym: "denture sore mouth" EXACT [DOID:11875] synonym: "denture stomatitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Denture stomatitis (disorder)" EXACT [] synonym: "Denture stomatitis [Ambiguous]" EXACT [] synonym: "Stomatitis, Denture" EXACT [] xref: DOID:11875 {source="MONDO:equivalentTo", source="EFO:1000893"} xref: ICD9:528.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10080528 xref: MESH:D013282 {source="DOID:11875", source="MONDO:equivalentTo", source="EFO:1000893"} xref: MeSH:D013282 xref: MONDO:0006723 xref: SCTID:69254008 {source="DOID:11875", source="MONDO:equivalentTo", source="EFO:1000893"} xref: SNOMEDCT:69254008 xref: UMLS:C0038364 {source="DOID:11875", source="MONDO:equivalentTo"} is_a: EFO:0009688 {source="DOID:11875", source="MESH:D013282"} ! stomatitis property_value: exactMatch DOID:11875 property_value: exactMatch http://identifiers.org/mesh/D013282 property_value: exactMatch http://identifiers.org/snomedct/69254008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038364 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1000894 name: dermoid cyst def: "A tumor consisting of displaced ectodermal structures along the lines of embryonic fusion, the wall being formed of epithelium-lined connective tissue, including skin appendages, and containing keratin, sebum, and hair. (Stedman, 25th ed)" [] synonym: "cystic dermoid choristoma" EXACT [] synonym: "Dermoid choristoma" EXACT [] synonym: "Dermoid Cyst" EXACT [] synonym: "Dermoid tumour" EXACT [] synonym: "Mature cystic teratoma" EXACT [] synonym: "teratoma, benign" EXACT [] synonym: "teratoma, benign (morphologic abnormality)" EXACT [] xref: DOID:2658 xref: MedDRA:10012522 xref: MeSH:D003884 xref: NCIt:C9011 xref: SNOMEDCT:72277008 is_a: EFO:0004198 ! skin neoplasm property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000895 name: desmoplastic small round cell tumor def: "Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases." [Orphanet:83469] subset: gard_rare {source="GARD:0006265"} subset: ordo_disease {source="Orphanet:83469"} synonym: "Desmoplas. small round cell tumor" EXACT [NCIT:C8300] synonym: "Desmoplas. small round cell tumour" EXACT OMO:0003005 [] synonym: "Desmoplastic small round cell tumor" EXACT [NCIT:C8300] synonym: "desmoplastic small round cell tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "desmoplastic small round cell tumor" EXACT [NCIT:C8300] synonym: "desmoplastic small round cell tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "Desmoplastic small round cell tumour" EXACT OMO:0003005 [] synonym: "Desmoplastic small round-cell neoplasm" EXACT [NCIT:C8300] synonym: "Desmoplastic small round-cell tumor" EXACT [GARD:0006265, NCIT:C8300] synonym: "Desmoplastic small round-cell tumour" EXACT OMO:0003005 [] synonym: "desmoplastic small-round-cell tumor" RELATED [ONCOTREE:DSRCT] synonym: "desmoplastic small-round-cell tumour" RELATED OMO:0003005 [] synonym: "DSRCT" EXACT ABBREVIATION [NCIT:C8300, Orphanet:83469] synonym: "Polyphenotypic small round cell tumor" EXACT [NCIT:C8300] synonym: "Polyphenotypic small round cell tumour" EXACT OMO:0003005 [] xref: DOID:6785 {source="MONDO:equivalentTo", source="EFO:1000895", source="MONDO:obsolete"} xref: EFO:1000895 {source="MONDO:equivalentTo"} xref: GARD:0006265 {source="MONDO:equivalentTo"} xref: HGNC:12796 {source="GARD:0006265"} xref: ICD10:C48.2 {source="ORDO:83469/ntbt", source="Orphanet:83469"} xref: ICDO:8806/3 {source="NCIT:C8300"} xref: MedDRA:10064581 {source="Orphanet:83469", source="Orphanet:83469/e"} xref: MedDRA:10064581 {source="ORDO:83469/e", source="Orphanet:83469"} xref: MedDRA:10064587 {source="EFO:1000895"} xref: MESH:D058405 {source="MONDO:equivalentTo", source="EFO:1000895", source="Orphanet:83469", source="Orphanet:83469/e"} xref: MESH:D058405 {source="ORDO:83469/e", source="MONDO:equivalentTo", source="EFO:1000895", source="Orphanet:83469"} xref: MONDO:0019373 xref: NCIT:C8300 {source="MONDO:equivalentTo", source="EFO:1000895"} xref: ONCOTREE:DSRCT {source="MONDO:equivalentTo"} xref: Orphanet:83469 {source="MONDO:equivalentTo"} xref: UMLS:C0281508 {source="NCIT:C8300", source="MONDO:equivalentTo", source="Orphanet:83469", source="Orphanet:83469/e"} xref: UMLS:C0281508 {source="NCIT:C8300", source="ORDO:83469/e", source="MONDO:equivalentTo", source="Orphanet:83469"} is_a: EFO:1001184 {source="NCIT:C8300"} ! small cell sarcoma is_a: EFO:1001968 {source="NCIT:C8300", source="Orphanet:83469"} ! soft tissue sarcoma is_a: MONDO:0015683 {source="Orphanet:83469"} ! primary malignant peritoneal tumor property_value: closeMatch DOID:6785 property_value: closeMatch http://identifiers.org/meddra/10064581 property_value: closeMatch http://identifiers.org/meddra/10064587 property_value: closeMatch http://identifiers.org/meddra/10064587 property_value: closeMatch http://identifiers.org/snomedct/128735004 property_value: exactMatch DOID:6785 property_value: exactMatch http://identifiers.org/meddra/10064581 property_value: exactMatch http://identifiers.org/mesh/D058405 property_value: exactMatch http://identifiers.org/mesh/D058405 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0281508 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0281508 property_value: exactMatch NCIT:C8300 property_value: exactMatch NCIT:C8300 property_value: exactMatch Orphanet:83469 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6265/desmoplastic-small-round-cell-tumor xsd:anyURI {source="GARD:0006265"} [Term] id: EFO:1000896 name: diabetic angiopathy def: "Diabetic angiopathy is a form of angiopathy associated with diabetic complications." [Wikipedia:Diabetic_angiopathy] def: "VASCULAR DISEASES that are associated with DIABETES MELLITUS." [] synonym: "Diabetic Angiopathies" EXACT [] synonym: "diabetic angiopathy" EXACT [MONDO:0006725] synonym: "diabetic peripheral angiopathy" EXACT [] {comment="preferred label from MONDO"} synonym: "Diabetic vascular disorder" EXACT [] synonym: "diabetic vascular disorder" EXACT [DOID:11713, NCIT:C35610] xref: DOID:10182 {source="MONDO:equivalentObsolete"} xref: DOID:11713 {source="MONDO:equivalentTo", source="EFO:1000896"} xref: ICD9:250.7 {source="DOID:10182"} xref: ICD9:443.81 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D003925 {source="DOID:11713", source="MONDO:equivalentTo", source="EFO:1000896"} xref: MeSH:D003925 xref: MONDO:0000960 xref: NCIT:C35610 {source="DOID:11713", source="MONDO:equivalentTo"} xref: SCTID:127014009 {source="DOID:10182", source="MONDO:equivalentTo", source="EFO:1000896"} xref: SNOMEDCT:127014009 xref: UMLS:C0011871 {source="DOID:10182", source="MONDO:equivalentTo"} xref: UMLS:C0011875 {source="DOID:11713", source="MONDO:equivalentTo", source="NCIT:C35610"} is_a: EFO:0003875 {source="DOID:11713", source="EFO:1000896"} ! peripheral vascular disease relationship: disease_arises_from_feature MONDO:0005148 ! type 2 diabetes mellitus property_value: exactMatch DOID:11713 property_value: exactMatch http://identifiers.org/mesh/D003925 property_value: exactMatch http://identifiers.org/snomedct/127014009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011871 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011875 property_value: exactMatch NCIT:C35610 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1000897 name: diabetic ketoacidosis def: "A life-threatening complication of diabetes mellitus, primarily of TYPE 1 DIABETES MELLITUS with severe INSULIN deficiency and extreme HYPERGLYCEMIA. It is characterized by KETOSIS; DEHYDRATION; and depressed consciousness leading to COMA." [] def: "The metabolic condition resulted from uncontrolled diabetes mellitus, in which the shift of acid-base status of the body toward the acid side because of loss of base or retention of acids other than carbonic acid is accompanied by the accumulation of ketone bodies in body tissues and fluids." [NCIT:P378] synonym: "DIABETES MELLITUS, KETOSIS-PRONE" EXACT [] synonym: "Diabetic Ketoacidosis" EXACT [] synonym: "diabetic ketoacidosis" EXACT [] {comment="preferred label from MONDO"} synonym: "ketosis-prone diabetes mellitus" EXACT [DOID:1837] synonym: "KPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612227] xref: DOID:1837 {source="MONDO:equivalentTo", source="EFO:1000897"} xref: ICD9:250.1 {source="DOID:1837"} xref: ICD9:250.10 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10012671 {source="EFO:1000897"} xref: MedDRA:10023392 xref: MESH:D016883 {source="MONDO:equivalentTo", source="EFO:1000897", source="DOID:1837"} xref: MeSH:D016883 xref: MONDO:0012819 xref: NCIt:C50530 xref: SCTID:420422005 {source="MONDO:equivalentTo", source="EFO:1000897", source="DOID:1837"} xref: SNOMEDCT:420422005 xref: UMLS:C0011880 {source="MONDO:equivalentTo", source="DOID:1837"} is_a: EFO:0000400 {source="https://orcid.org/0000-0003-0978-0309"} ! diabetes mellitus property_value: closeMatch http://identifiers.org/meddra/10012671 property_value: exactMatch DOID:1837 property_value: exactMatch http://identifiers.org/mesh/D016883 property_value: exactMatch http://identifiers.org/snomedct/420422005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011880 property_value: excluded_subClassOf MONDO:0003847 property_value: excluded_subClassOf MONDO:0005148 {source="DOID:1837"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4859 xsd:anyURI [Term] id: EFO:1000898 name: diaphragmatic eventration def: "A congenital abnormality characterized by the elevation of the DIAPHRAGM dome. It is the result of a thinned diaphragmatic muscle and injured PHRENIC NERVE, allowing the intra-abdominal viscera to push the diaphragm upward against the LUNG." [] def: "A congenital or acquired abnormality characterized by elevation of the hemidiaphragm." [NCIT:P378] synonym: "Diaphragmatic Eventration" EXACT [] synonym: "diaphragmatic eventration" EXACT [] {comment="preferred label from MONDO"} synonym: "diaphragmatic eventration" EXACT [MONDO:ambiguous] synonym: "diaphragmatic eventration (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:10480 {source="MONDO:equivalentTo", source="EFO:1000898"} xref: HP:0009110 {source="MONDO:otherHierarchy"} xref: MESH:D003965 {source="MONDO:equivalentTo", source="DOID:10480", source="EFO:1000898"} xref: MeSH:D003965 xref: MONDO:0006726 xref: NCIT:C98912 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:10480", source="EFO:1000898"} xref: NCIt:C98912 xref: SCTID:34168003 {source="MONDO:equivalentTo", source="DOID:10480", source="EFO:1000898"} xref: SNOMEDCT:34168003 is_a: EFO:0007233 {source="DOID:10480"} ! diaphragm disease is_a: MONDO:0700223 ! hereditary skeletal muscle disorder property_value: exactMatch DOID:10480 property_value: exactMatch http://identifiers.org/mesh/D003965 property_value: exactMatch http://identifiers.org/snomedct/34168003 property_value: exactMatch NCIT:C98912 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000589 "diaphragmatic eventration (disease)" xsd:string [Term] id: EFO:1000899 name: diastolic heart failure def: "Heart failure caused by abnormal myocardial relaxation during DIASTOLE leading to defective cardiac filling." [] def: "Heart failure caused by abnormal myocardial relaxation during diastole leading to defective cardiac filling." [MESH:D054144] synonym: "diastolic heart failure" EXACT [] {comment="preferred label from MONDO"} synonym: "Heart Failure, Diastolic" EXACT [] xref: DOID:9775 {source="MONDO:equivalentTo", source="EFO:1000899"} xref: ICD10:I50.3 xref: ICD9:428.3 {source="EFO:1000899", source="DOID:9775"} xref: ICD9:428.30 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9775"} xref: MedDRA:10069211 {source="EFO:1000899"} xref: MESH:D054144 {source="MONDO:equivalentTo", source="EFO:1000899", source="DOID:9775"} xref: MeSH:D054144 xref: MONDO:0006727 xref: SCTID:418304008 {source="MONDO:equivalentTo", source="EFO:1000899", source="DOID:9775"} xref: SNOMEDCT:418304008 xref: UMLS:C1135196 {source="MONDO:equivalentTo", source="DOID:9775"} is_a: EFO:0000373 {source="DOID:9775", source="EFO:1000899"} ! congestive heart failure property_value: closeMatch http://identifiers.org/meddra/10069211 property_value: exactMatch DOID:9775 property_value: exactMatch http://identifiers.org/mesh/D054144 property_value: exactMatch http://identifiers.org/snomedct/418304008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1135196 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000900 name: discitis def: "An infection of the intervertebral disk space." [PMID:27070599] def: "Inflammation of an INTERVERTEBRAL DISC or disk space which may lead to disk erosion. Until recently, discitis has been defined as a nonbacterial inflammation and has been attributed to aseptic processes (e.g., chemical reaction to an injected substance). However, recent studies provide evidence that infection may be the initial cause, but perhaps not the promoter, of most cases of discitis. Discitis has been diagnosed in patients following discography, myelography, lumbar puncture, paravertebral injection, and obstetrical epidural anesthesia. Discitis following chemonucleolysis (especially with chymopapain) is attributed to chemical reaction by some and to introduction of microorganisms by others." [] synonym: "Discitis" EXACT [] synonym: "discitis (disorder)" EXACT [] synonym: "infectious discitis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:10986 xref: ICD10:M51 xref: MeSH:D015299 xref: MONDO:8000000 xref: SNOMEDCT:2304001 is_a: EFO:0005802 ! cartilage disease is_a: EFO:0009477 ! vertebral joint disease is_a: MONDO:0042485 ! infective arthritis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/501 xsd:anyURI [Term] id: EFO:1000901 name: discrete subaortic stenosis def: "A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the AORTIC VALVE, anywhere between the aortic valve and the MITRAL VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA." [] def: "A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the aortic valve, anywhere between the aortic valve and the mitral valve. It is characterized by restricted outflow from the left ventricle into the aorta." [MESH:D021922] synonym: "Discrete Subaortic Stenosis" EXACT [] synonym: "discrete subaortic stenosis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:5804 {source="MONDO:equivalentTo", source="EFO:1000901"} xref: MESH:D021922 {source="MONDO:equivalentTo", source="DOID:5804", source="EFO:1000901"} xref: MeSH:D021922 xref: MONDO:0006729 xref: UMLS:C0012628 {source="MONDO:equivalentTo", source="DOID:5804"} is_a: EFO:1001199 {source="DOID:5804", source="EFO:1000901", source="MESH:D021922"} ! subvalvular aortic stenosis property_value: exactMatch DOID:5804 property_value: exactMatch http://identifiers.org/mesh/D021922 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0012628 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000902 name: drug psychosis def: "Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance." [MESH:D011605] synonym: "drug psychosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Drug-induced psychosis" EXACT [] synonym: "drug-induced psychosis" EXACT [DOID:1742] synonym: "Drug-induced psychotic disorder" EXACT [] synonym: "drug-induced psychotic disorder" EXACT [DOID:1742, ICD9CM:292.1] synonym: "Psychoses, Substance-Induced" EXACT [] xref: DOID:1742 {source="MONDO:equivalentTo", source="EFO:1000902"} xref: ICD9:292.1 {source="DOID:1742"} xref: MedDRA:10013741 xref: MedDRA:10045855 {source="EFO:1000902"} xref: MESH:D011605 {source="DOID:1742", source="MONDO:equivalentTo", source="EFO:1000902"} xref: MeSH:D011605 xref: MONDO:0006730 xref: SCTID:191483003 {source="DOID:1742", source="MONDO:equivalentTo", source="EFO:1000902"} xref: SNOMEDCT:191483003 is_a: MONDO:0001423 {source="DOID:1742", source="MONDO:Redundant"} ! drug-induced mental disorder is_a: MONDO:0004630 {source="https://orcid.org/0000-0001-5208-3432"} ! substance-induced psychosis property_value: closeMatch http://identifiers.org/meddra/10045855 property_value: exactMatch DOID:1742 property_value: exactMatch http://identifiers.org/mesh/D011605 property_value: exactMatch http://identifiers.org/snomedct/191483003 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000903 name: drug-induced akathisia def: "A condition associated with the use of certain medications and characterized by an internal sense of motor restlessness often described as an inability to resist the urge to move." [] def: "An uncomfortable feeling of inner restlessness and inability to stay still. It can be a side effect of psychotropic medications." [NCIT:P378] synonym: "Akathisia, Drug-Induced" EXACT [] synonym: "drug-induced akathisia" EXACT [] {comment="preferred label from MONDO"} synonym: "Drug-induced akathisia (disorder)" EXACT [] xref: DOID:4263 xref: ICD10CM:G25.71 {source="MONDO:equivalentTo"} xref: ICD9:333.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10001540 {source="EFO:1000903"} xref: MESH:D017109 {source="EFO:1000903", source="MONDO:equivalentTo"} xref: MeSH:D017109 xref: MONDO:0006731 xref: NCIt:C78163 xref: SCTID:230333002 {source="EFO:1000903", source="MONDO:equivalentTo"} xref: SNOMEDCT:230333002 is_a: EFO:0000618 {source="EFO:1000903", source="ICD10CM:G25.71/inferred", source="MESH:D017109/inferred"} ! nervous system disease property_value: closeMatch http://identifiers.org/meddra/10001540 property_value: exactMatch http://identifiers.org/mesh/D017109 property_value: exactMatch http://identifiers.org/snomedct/230333002 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G25.71 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000904 name: drug-Induced dyskinesia def: "Abnormal movements, including HYPERKINESIS; HYPOKINESIA; TREMOR; and DYSTONIA, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS). (Adams et al., Principles of Neurology, 6th ed, p1199)" [] def: "Abnormal movements, including hyperkinesis; hypokinesia; tremor; and dystonia, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see antipsychotic agents). (Adams et al., Principles of Neurology, 6th ed, p1199)" [MESH:D004409] synonym: "Drug-induced dyskinesia" EXACT [] synonym: "drug-induced dyskinesia" EXACT [] {comment="preferred label from MONDO"} synonym: "Drug-induced dyskinesia (disorder)" EXACT [] synonym: "Dyskinesia, Drug-Induced" EXACT [] xref: DOID:4478 xref: ICD9:333.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10013916 {source="EFO:1000904"} xref: MedDRA:10043118 xref: MESH:D004409 {source="EFO:1000904", source="MONDO:equivalentTo"} xref: MeSH:D004409 xref: MONDO:0006732 xref: SCTID:102448004 {source="EFO:1000904", source="MONDO:equivalentTo"} xref: SCTID:102449007 xref: SNOMEDCT:102448004 is_a: EFO:0000618 {source="EFO:1000904", source="MESH:D004409/inferred"} ! nervous system disease property_value: closeMatch http://identifiers.org/meddra/10013916 property_value: exactMatch http://identifiers.org/mesh/D004409 property_value: exactMatch http://identifiers.org/snomedct/102448004 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000905 name: drug-induced hepatitis def: "Liver disease lasting six months or more, caused by an adverse drug effect. The adverse effect may result from a direct toxic effect of a drug or metabolite, or an idiosyncratic response to a drug or metabolite." [] synonym: "Drug-induced chronic hepatitis (disorder)" EXACT [] synonym: "Drug-Induced Liver Injury, Chronic" EXACT [] xref: DOID:2044 xref: MedDRA:10013762 xref: MeSH:D056487 xref: SNOMEDCT:235876009 is_a: HP:0012115 ! Hepatitis property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000906 name: dry eye syndrome def: "A syndrome characterized by dryness of the cornea and conjunctiva. It is usually caused by a deficiency in tear production. Symptoms include a feeling of burning eyes and a possible foreign body presence in the eye." [NCIT:C34553] def: "Corneal and conjunctival dryness due to deficient tear production, predominantly in menopausal and post-menopausal women. Filamentary keratitis or erosion of the conjunctival and corneal epithelium may be caused by these disorders. Sensation of the presence of a foreign body in the eye and burning of the eyes may occur." [] def: "Drying and inflammation of the conjunctiva as a result of insufficient lacrimal secretion. When found in association with XEROSTOMIA and polyarthritis, it is called SJOGREN'S SYNDROME." [] synonym: "dry eye" EXACT [NCIT:C34553] synonym: "Dry Eye Syndrome" EXACT [] synonym: "dry eye syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "dry eye syndrome" EXACT [NCIT:C34553] synonym: "Dry Eye Syndromes" EXACT [] synonym: "dry eye(s)" EXACT [NCIT:C34553] synonym: "eye(s), dry" EXACT [NCIT:C34553] synonym: "KCS" EXACT ABBREVIATION [DOID:12895] synonym: "Keraconjunctivitis sicca" EXACT [] synonym: "Keratoconjunctivitis Sicca" EXACT [] synonym: "Keratoconjunctivitis sicca" EXACT [] synonym: "keratoconjunctivitis sicca" EXACT [DOID:12895, EFO:1001001, MESH:D007638, NCIT:C34553] synonym: "Keratoconjunctivitis sicca (disorder)" EXACT [] synonym: "sicca, keratoconjunctivitis" EXACT [MESH:D007638] synonym: "Tear film insufficiency" EXACT [] synonym: "tear film insufficiency" EXACT [DOID:10140] xref: DOID:10140 {source="EFO:1000906", source="MONDO:equivalentTo"} xref: DOID:12895 {source="EFO:1001001", source="MONDO:equivalentTo"} xref: EFO:1001001 {source="MONDO:equivalentTo"} xref: HP:0001097 xref: ICD9:375.15 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10013777 {source="EFO:1000906"} xref: MedDRA:100233350 {source="EFO:1001001"} xref: MESH:D007638 {source="EFO:1001001", source="MONDO:equivalentTo", source="DOID:12895"} xref: MeSH:D007638 xref: MESH:D015352 {source="EFO:1000906", source="MONDO:equivalentTo", source="DOID:10140"} xref: MeSH:D015352 xref: MONDO:0006733 xref: NCIT:C34553 {source="EFO:1000906", source="EFO:1001001", source="MONDO:equivalentTo", source="DOID:10140"} xref: SCTID:302896008 {source="EFO:1001001", source="MONDO:equivalentTo", source="DOID:12895"} xref: SCTID:46152009 {source="MONDO:equivalentTo", source="DOID:10140"} xref: SNOMEDCT:302896008 xref: UMLS:C0013238 {source="MONDO:equivalentTo", source="DOID:10140", source="NCIT:C34553"} xref: UMLS:C0022575 {source="MONDO:equivalentTo", source="DOID:12895"} is_a: EFO:0009455 {source="DOID:10140"} ! lacrimal apparatus disease is_a: MONDO:0002254 {source="NCIT:C34553"} ! syndromic disease is_a: MONDO:0004768 {source="MESH:D007638"} ! keratoconjunctivitis property_value: closeMatch http://identifiers.org/meddra/10013777 property_value: closeMatch http://identifiers.org/meddra/100233350 property_value: exactMatch DOID:10140 property_value: exactMatch DOID:12895 property_value: exactMatch http://identifiers.org/mesh/D007638 property_value: exactMatch http://identifiers.org/mesh/D015352 property_value: exactMatch http://identifiers.org/snomedct/302896008 property_value: exactMatch http://identifiers.org/snomedct/46152009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013238 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022575 property_value: exactMatch NCIT:C34553 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000907 name: duodenal benign neoplasm alt_id: MONDO:0021504 def: "A non-metastasizing neoplasm arising from the wall of the duodenum." [NCIT:C4775] synonym: "benign duodenal neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "benign duodenal neoplasm" EXACT [NCIT:C4775] synonym: "benign duodenal neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "benign duodenal tumor" EXACT [NCIT:C4775] synonym: "benign duodenal tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of duodenum" EXACT [NCIT:C4775] synonym: "benign neoplasm of the duodenum" EXACT [NCIT:C4775] synonym: "benign tumor of duodenum" EXACT [NCIT:C4775] synonym: "benign tumor of the duodenum" EXACT [NCIT:C4775] synonym: "benign tumour of duodenum" EXACT OMO:0003005 [] synonym: "benign tumour of the duodenum" EXACT OMO:0003005 [] synonym: "duodenal benign neoplasm" RELATED [DOID:1737] synonym: "duodenum benign neoplasm" EXACT [MONDO:patterns/location] synonym: "neoplasm of the duodenum" BROAD [DOID:1737, NCIT:C2995] synonym: "neoplasm of the duodenum" EXACT [DOID:1737, NCIT:C2995] xref: DOID:1737 {source="EFO:1000907", source="MONDO:equivalentTo"} xref: EFO:1000907 {source="MONDO:equivalentTo"} xref: MedDRA:10004251 {source="EFO:1000907"} xref: MESH:D004379 {source="EFO:1000907", source="DOID:1737", source="MONDO:directSiblingOf"} xref: MONDO:0006734 xref: NCIT:C4775 {source="EFO:1000907", source="MONDO:equivalentTo"} xref: SCTID:92080005 {source="MONDO:equivalentTo"} is_a: MONDO:0021375 {source="MONDO:Redundant", source="NCIT:C4775"} ! tumor of duodenum is_a: MONDO:0021501 {source="MONDO:Redundant", source="NCIT:C4775"} ! benign neoplasm of small intestine property_value: closeMatch http://identifiers.org/meddra/10004251 property_value: closeMatch http://identifiers.org/meddra/10004251 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0013291 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0496869 property_value: exactMatch DOID:1737 property_value: exactMatch DOID:1737 property_value: exactMatch http://identifiers.org/snomedct/92080005 property_value: exactMatch http://identifiers.org/snomedct/92080005 property_value: exactMatch NCIT:C4775 property_value: exactMatch NCIT:C4775 property_value: http://purl.org/dc/terms/conformsTo benign:neoplasm.yaml [Term] id: EFO:1000908 name: duodenal obstruction def: "Hindrance of the passage of luminal contents in the DUODENUM. Duodenal obstruction can be partial or complete, and caused by intrinsic or extrinsic factors. Simple obstruction is associated with diminished or stopped flow of luminal contents. Strangulating obstruction is associated with impaired blood flow to the duodenum in addition to obstructed flow of luminal contents." [] synonym: "Duodenal Obstruction" EXACT [] xref: DOID:3558 xref: MedDRA:10013830 xref: MeSH:D004380 xref: NCIt:C79548 is_a: HP:0004796 ! Gastrointestinal obstruction property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000909 name: duodenogastric reflux def: "Retrograde flow of duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the STOMACH." [] def: "Retrograde flow of duodenal contents (bile acids; pancreatic juice) into the stomach." [MESH:D004383] synonym: "Duodenogastric Reflux" EXACT [] synonym: "duodenogastric reflux" EXACT [] {comment="preferred label from MONDO"} synonym: "Duodenogastric reflux (finding)" EXACT [] synonym: "duodenogastric reflux (finding)" EXACT [DOID:4071] xref: DOID:4071 {source="MONDO:equivalentTo", source="EFO:1000909"} xref: MedDRA:10060865 {source="EFO:1000909"} xref: MESH:D004383 {source="MONDO:equivalentTo", source="EFO:1000909", source="DOID:4071"} xref: MeSH:D004383 xref: MONDO:0006735 xref: SNOMEDCT:9733003 xref: UMLS:C0013299 {source="MONDO:equivalentTo", source="DOID:4071"} is_a: EFO:0003948 {source="EFO:1000909"} ! gastroesophageal reflux disease is_a: MONDO:0002866 {source="DOID:4071", source="MESH:D004383"} ! duodenal disorder property_value: closeMatch http://identifiers.org/meddra/10060865 property_value: exactMatch DOID:4071 property_value: exactMatch http://identifiers.org/mesh/D004383 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013299 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000910 name: dysplasia of cervix def: "Abnormal development of immature squamous EPITHELIAL CELLS of the UTERINE CERVIX, a term used to describe premalignant cytological changes in the cervical EPITHELIUM. These atypical cells do not penetrate the epithelial BASEMENT MEMBRANE." [] def: "Abnormal development of immature squamous epithelial cells of the uterine cervix, a term used to describe premalignant cytological changes in the cervical epithelium. These atypical cells do not penetrate the epithelial basement membrane." [MESH:D002578] synonym: "cervical dysplasia" EXACT [] synonym: "cervical dysplasia NOS" EXACT [] synonym: "cervical intraepithelial neoplasia grade 1" EXACT [] synonym: "cervical intraepithelial neoplasia grade 1 (disorder)" EXACT [] synonym: "cervical intraepithelial neoplasia grade 2" EXACT [] synonym: "cervical intraepithelial neoplasia grade 2 (disorder)" EXACT [] synonym: "cervical intraepithelial neoplasia I [CIN I]" EXACT [] synonym: "Cervix Dysplasia" EXACT [] synonym: "dysplasia of cervix" EXACT [] {comment="preferred label from MONDO"} synonym: "Dysplasia of cervix (disorder)" EXACT [] synonym: "Dysplasia of cervix (uteri)" EXACT [] synonym: "Dysplasia of cervix NOS (disorder)" EXACT [] synonym: "Dysplasia of cervix uteri" EXACT [] synonym: "Dysplasia of cervix uteri (disorder)" EXACT [] synonym: "Low-grade Intraepithelial Neoplasia of Cervix Uteri" EXACT [] synonym: "Mild dysplasia of cervix" EXACT [] synonym: "Moderate dysplasia of cervix" EXACT [] synonym: "Moderate squamous Dysplasia of the Cervix" EXACT [] synonym: "Uterine Cervical Dysplasia" EXACT [] xref: DOID:8586 xref: ICD10:N87 xref: ICD9:622.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:622.10 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:622.11 {source="EFO:1000910"} xref: MedDRA:10013957 {source="EFO:1000910"} xref: MESH:D002578 {source="MONDO:equivalentTo", source="EFO:1000910"} xref: MeSH:D002578 xref: MONDO:0006736 xref: SCTID:73391008 {source="MONDO:equivalentTo", source="EFO:1000910"} xref: SNOMEDCT:73391008 xref: UMLS:C0007868 {source="MONDO:equivalentTo"} is_a: EFO:0000512 {source="EFO:1000910"} ! reproductive system disease is_a: EFO:0009549 ! female reproductive system disease property_value: closeMatch http://identifiers.org/meddra/10013957 property_value: exactMatch http://identifiers.org/mesh/D002578 property_value: exactMatch http://identifiers.org/snomedct/73391008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007868 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000911 name: dystocia def: "Slow or difficult OBSTETRIC LABOR or CHILDBIRTH." [] def: "Slow or difficult obstetric labor or childbirth." [MESH:D004420] synonym: "Dystocia" EXACT [] synonym: "dystocia" EXACT [] {comment="preferred label from MONDO"} xref: DOID:8494 xref: MESH:D004420 {source="MONDO:equivalentTo", source="EFO:1000911"} xref: MeSH:D004420 xref: MONDO:0006737 is_a: EFO:0009682 {source="https://github.com/monarch-initiative/mondo/issues/990"} ! pregnancy disorder property_value: exactMatch http://identifiers.org/mesh/D004420 property_value: excluded_subClassOf MONDO:0005039 {source="EFO:1000911"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000912 name: eccrine acrospiroma def: "A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors." [MESH:D018250] subset: gard_rare synonym: "Acrospiroma" EXACT [] synonym: "acrospiroma, eccrine" RELATED [MESH:D018250] synonym: "acrospiromas" RELATED [MESH:D018250] synonym: "acrospiromas, eccrine" RELATED [MESH:D018250] synonym: "clear cell Hidradrenoma" RELATED [MESH:D018250] synonym: "clear-cell Hidradrenoma" RELATED [MESH:D018250] synonym: "clear-cell Hidradrenomas" RELATED [MESH:D018250] synonym: "Eccrine acrospiroma" EXACT [] synonym: "eccrine acrospiroma" EXACT [] {comment="preferred label from MONDO"} synonym: "eccrine acrospiroma" EXACT [DOID:5442, GARD:0005726, MESH:D018250] synonym: "eccrine Acrospiromas" RELATED [MESH:D018250] synonym: "eccrine hidradenoma" EXACT [DOID:5442] synonym: "Eccrine hidradenoma (disorder)" EXACT [] synonym: "Eccrine hidradenoma of skin" EXACT [] synonym: "eccrine hidradenoma of skin" EXACT [DOID:5442] synonym: "eccrine poroma" EXACT [NCIT:C27273] synonym: "hidradenoma" RELATED [GARD:0005726, MESH:D018250] synonym: "hidradenoma, solid-cystic" RELATED [MESH:D018250] synonym: "Hidradenomas" RELATED [MESH:D018250] synonym: "Hidradenomas, solid-cystic" RELATED [MESH:D018250] synonym: "Hidradrenoma, clear-cell" RELATED [MESH:D018250] synonym: "Hidradrenoma, nodular" RELATED [MESH:D018250] synonym: "Hidradrenomas, clear-cell" RELATED [MESH:D018250] synonym: "Hidradrenomas, nodular" RELATED [MESH:D018250] synonym: "nodular Hidradrenoma" RELATED [MESH:D018250] synonym: "nodular Hidradrenomas" RELATED [MESH:D018250] synonym: "poroma" EXACT [DOID:5442] synonym: "Poroma (Acrospiroma)" EXACT [] synonym: "poroma (acrospiroma)" EXACT [DOID:5442, NCIT:C27273] synonym: "poroma/acrospiroma" RELATED [ONCOTREE:PORO] synonym: "solid cystic hidradenoma" RELATED [MESH:D018250] synonym: "solid-cystic hidradenoma" RELATED [MESH:D018250] synonym: "solid-cystic Hidradenomas" RELATED [MESH:D018250] xref: DOID:5442 {source="MONDO:equivalentTo", source="EFO:1000912"} xref: MESH:D018250 {source="DOID:5442", source="MONDO:equivalentTo", source="EFO:1000912"} xref: MeSH:D018250 xref: MONDO:0006738 xref: NCIT:C27273 {source="MONDO:equivalentTo", source="ONCOTREE:PORO"} xref: NCIT:C7568 {source="DOID:5442", source="MONDO:relatedTo"} xref: ONCOTREE:PORO {source="MONDO:equivalentTo"} xref: SCTID:253020008 {source="DOID:5442", source="MONDO:relatedTo"} xref: SCTID:400099008 {source="DOID:5442", source="MONDO:equivalentTo"} is_a: MONDO:0021489 {source="NCIT:C27273"} ! benign neoplasm of sweat gland relationship: EFO:0000784 UBERON:0000423 ! has_disease_location eccrine sweat gland property_value: exactMatch DOID:5442 property_value: exactMatch http://identifiers.org/mesh/D018250 property_value: exactMatch http://identifiers.org/snomedct/400099008 property_value: exactMatch NCIT:C27273 property_value: excluded_subClassOf MONDO:0005506 {source="EFO:1000912"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000913 name: ehrlich tumor carcinoma def: "A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms." [MESH:D002286] synonym: "Ehrlich tumor carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "Ehrlich tumor carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "Ehrlich's tumor" EXACT [CSP2005:2000-2080, DOID:5050] synonym: "Ehrlich's tumor" EXACT [DOID:5050] synonym: "Ehrlich's tumour" EXACT OMO:0003005 [] xref: DOID:5050 {source="MONDO:equivalentTo", source="EFO:1000913"} xref: EFO:1000913 {source="MONDO:equivalentTo"} xref: MESH:D002286 {source="MONDO:equivalentTo", source="DOID:5050", source="EFO:1000913"} xref: MONDO:0006739 xref: UMLS:C0007125 {source="MONDO:equivalentTo", source="DOID:5050"} is_a: EFO:0000305 {source="DOID:5050", source="EFO:1000913"} ! breast carcinoma property_value: exactMatch DOID:5050 property_value: exactMatch DOID:5050 property_value: exactMatch http://identifiers.org/mesh/D002286 property_value: exactMatch http://identifiers.org/mesh/D002286 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007125 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007125 [Term] id: EFO:1000914 name: empty sella syndrome def: "A condition when the SELLA TURCICA is not filled with pituitary tissue. The pituitary gland is either compressed, atrophied, or removed. There are two types: (1) primary empty sella is due a defect in the sella diaphragm leading to arachnoid herniation into the sellar space; (2) secondary empty sella is associated with the removal or treatment of PITUITARY NEOPLASMS." [] def: "Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland. There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten. The secondary form occurs when the pituitary gland is damaged due to injury, a tumor, surgery or radiation therapy. Some people with ESS have no symptoms. People with secondary ESS may have symptoms of decreased pituitary function such as absence of menstruation, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Treatment focuses on the symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/6331/empty-sella-syndrome] subset: gard_rare {source="GARD:0006331"} synonym: "empty sella" EXACT [NCIT:C84686] synonym: "Empty Sella Syndrome" EXACT [] synonym: "Empty sella syndrome" EXACT [] synonym: "empty sella syndrome" EXACT [DOID:3642] synonym: "empty sella syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Empty sella syndrome (disorder)" EXACT [] synonym: "empty sella turcica" RELATED [GARD:0006331] xref: DOID:3642 {source="EFO:1000914", source="MONDO:equivalentTo"} xref: ICD9:253.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10014567 {source="EFO:1000914"} xref: MESH:D004652 {source="EFO:1000914", source="DOID:3642", source="MONDO:equivalentTo"} xref: MeSH:D004652 xref: MONDO:0006740 xref: NCIT:C84686 {source="EFO:1000914", source="DOID:3642", source="MONDO:equivalentTo"} xref: NCIt:C84686 xref: SCTID:237722004 {source="EFO:1000914", source="DOID:3642", source="MONDO:equivalentTo"} xref: SNOMEDCT:237722004 xref: UMLS:C0014008 {source="DOID:3642", source="MONDO:equivalentTo", source="NCIT:C84686"} is_a: EFO:0009607 {source="DOID:3642", source="MESH:D004652"} ! pituitary gland disease is_a: MONDO:0002254 {source="NCIT:C84686"} ! syndromic disease property_value: closeMatch http://identifiers.org/meddra/10014567 property_value: exactMatch DOID:3642 property_value: exactMatch http://identifiers.org/mesh/D004652 property_value: exactMatch http://identifiers.org/snomedct/237722004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014008 property_value: exactMatch NCIT:C84686 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6331/empty-sella-syndrome xsd:anyURI {source="GARD:0006331"} [Term] id: EFO:1000915 name: encephalomalacia def: "Localized atrophy of the brain parenchyma due to aging, hemorrhage, infarct, or inflammation." [NCIT:P378] def: "Softening or loss of brain tissue following CEREBRAL INFARCTION; cerebral ischemia (see BRAIN ISCHEMIA), infection, CRANIOCEREBRAL TRAUMA, or other injury. The term is often used during gross pathologic inspection to describe blurred cortical margins and decreased consistency of brain tissue following infarction. Multicystic encephalomalacia refers to the formation of multiple cystic cavities of various sizes in the cerebral cortex of neonates and infants following injury, most notably perinatal hypoxia-ischemic events. (From Davis et al., Textbook of Neuropathology, 2nd ed, p665; J Neuropathol Exp Neurol, 1995 Mar;54(2):268-75)" [] synonym: "Encephalomalacia" EXACT [] synonym: "encephalomalacia" EXACT [] {comment="preferred label from MONDO"} synonym: "Encephalomalacia (disorder)" EXACT [] xref: DOID:2034 {source="EFO:1000915", source="MONDO:equivalentTo"} xref: MedDRA:10051818 {source="EFO:1000915"} xref: MESH:D004678 {source="EFO:1000915", source="DOID:2034", source="MONDO:equivalentTo"} xref: MeSH:D004678 xref: MONDO:0006741 xref: NCIT:C98920 {source="EFO:1000915", source="DOID:2034", source="MONDO:equivalentTo"} xref: NCIt:C98920 xref: SCTID:58762006 {source="EFO:1000915", source="DOID:2034", source="MONDO:equivalentTo"} xref: SNOMEDCT:58762006 xref: UMLS:C0014068 {source="DOID:2034", source="MONDO:equivalentTo", source="NCIT:C98920"} is_a: EFO:0005774 {source="DOID:2034", source="EFO:1000915", source="MESH:D004678"} ! brain disease property_value: closeMatch http://identifiers.org/meddra/10051818 property_value: exactMatch DOID:2034 property_value: exactMatch http://identifiers.org/mesh/D004678 property_value: exactMatch http://identifiers.org/snomedct/58762006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014068 property_value: exactMatch NCIT:C98920 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000916 name: endemic goiter def: "A form of IODINE deficiency disorders characterized by an enlargement of the THYROID GLAND in a significantly large fraction of a POPULATION GROUP. Endemic goiter is common in mountainous and iodine-deficient areas of the world where the DIET contains insufficient amount of iodine." [] def: "Thyroid gland enlargement caused by inadequate dietary iodine intake. It occurs in areas in which the soil lacks iodine compounds or there is low seafood consumption." [NCIT:P378] synonym: "endemic goiter" EXACT [] {comment="preferred label from MONDO"} synonym: "Endemic goiter (disorder)" EXACT [] synonym: "Goiter, Endemic" EXACT [] synonym: "Goiter, specified as simple" EXACT [] synonym: "Iodine-deficiency-related (endemic) goiter, unspecified (disorder)" EXACT [] synonym: "Iodine-deficiency-related (endemic) goitre, unspecified" EXACT [] synonym: "iodine-deficiency-related endemic goiter" EXACT [DOID:13198] synonym: "Iodine-deficiency-related endemic goiter (disorder)" EXACT [] synonym: "Iodine-deficiency-related endemic goitre" EXACT [] synonym: "iodine-deficiency-related endemic goitre" EXACT OMO:0003005 [] synonym: "simple Goiter" EXACT [] synonym: "simple goiter" EXACT [DOID:13198, NCIT:C35023] synonym: "simple goiter (disorder)" EXACT [] synonym: "simple goitre" EXACT OMO:0003005 [] xref: DOID:13198 {source="EFO:1000916", source="MONDO:equivalentTo"} xref: ICD9:240.0 {source="MONDO:relatedTo", source="DOID:13198"} xref: MedDRA:10068848 {source="EFO:1000916"} xref: MESH:D006043 {source="EFO:1000916", source="MONDO:equivalentTo", source="DOID:13198"} xref: MeSH:D006043 xref: MONDO:0006742 xref: NCIT:C35023 {source="EFO:1000916", source="MONDO:equivalentTo", source="DOID:13198"} xref: NCIt:C35023 xref: SCTID:267369002 {source="MONDO:relatedTo", source="DOID:13198"} xref: SCTID:56805008 {source="EFO:1000916", source="MONDO:equivalentTo", source="DOID:13198"} xref: SNOMEDCT:56805008 is_a: EFO:0004283 {source="DOID:13198", source="EFO:1000916", source="MESH:D006043", source="MONDO:Redundant", source="NCIT:C35023"} ! goiter is_a: EFO:1001067 {source="DOID:13198", source="MONDO:Redundant"} ! nutritional deficiency disease intersection_of: EFO:0004283 ! goiter intersection_of: EFO:1001067 ! nutritional deficiency disease property_value: closeMatch http://identifiers.org/meddra/10068848 property_value: exactMatch DOID:13198 property_value: exactMatch http://identifiers.org/mesh/D006043 property_value: exactMatch http://identifiers.org/snomedct/56805008 property_value: exactMatch NCIT:C35023 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1000917 name: endocrine tuberculosis def: "Infection of the ENDOCRINE GLANDS with species of MYCOBACTERIUM, most often MYCOBACTERIUM TUBERCULOSIS." [] def: "Infection of the endocrine glands with species of mycobacterium, most often mycobacterium tuberculosis." [MESH:D014383] synonym: "endocrine tuberculosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Tuberculosis, Endocrine" EXACT [] xref: DOID:14041 xref: MESH:D014383 {source="EFO:1000917", source="MONDO:equivalentTo"} xref: MeSH:D014383 xref: MONDO:0006743 xref: UMLS:C0041310 {source="MONDO:equivalentTo"} is_a: EFO:0001379 ! endocrine system disease is_a: MONDO:0018076 {source="EFO:1000917", source="MESH:D014383", source="MONDO:Redundant"} ! tuberculosis property_value: exactMatch http://identifiers.org/mesh/D014383 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041310 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1000918 name: endolymphatic hydrops def: "An accumulation of ENDOLYMPH in the inner ear (LABYRINTH) leading to buildup of pressure and distortion of intralabyrinthine structures, such as COCHLEA and SEMICIRCULAR CANALS. It is characterized by SENSORINEURAL HEARING LOSS; TINNITUS; and sometimes VERTIGO." [] def: "An accumulation of endolymph in the inner ear (labyrinth) leading to buildup of pressure and distortion of intralabyrinthine structures, such as cochlea and semicircular canals. It is characterized by sensorineural hearing loss; tinnitus; and sometimes vertigo." [MESH:D018159] synonym: "Endolymphatic Hydrops" EXACT [] synonym: "endolymphatic hydrops" EXACT [] {comment="preferred label from MONDO"} synonym: "labyrinthine hydrops" EXACT [DOID:9848] xref: DOID:9848 {source="EFO:1000918", source="MONDO:equivalentTo"} xref: ICD9:386.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10049934 {source="EFO:1000918"} xref: MESH:D018159 {source="EFO:1000918", source="MONDO:equivalentTo", source="DOID:9848"} xref: MeSH:D018159 xref: MONDO:0006744 xref: SCTID:27621000119100 {source="MONDO:equivalentTo", source="DOID:9848"} xref: SNOMEDCT:9794007 xref: UMLS:C0206586 {source="MONDO:equivalentTo", source="DOID:9848"} is_a: MONDO:0004900 {source="DOID:9848"} ! peripheral vertigo property_value: closeMatch http://identifiers.org/meddra/10049934 property_value: exactMatch DOID:9848 property_value: exactMatch http://identifiers.org/mesh/D018159 property_value: exactMatch http://identifiers.org/snomedct/27621000119100 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206586 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000919 name: endometrial stromal sarcoma def: "A malignant mesenchymal neoplasm that affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma." [NCIT:C8973] subset: gard_rare {source="GARD:0006339"} subset: ordo_disease {source="Orphanet:213711"} synonym: "endometrial stromal sarcoma" EXACT [MESH:D018203, NCIT:C8973] synonym: "endometrial stromal sarcoma, high grade" EXACT [DOID:4226] synonym: "endometrial stromal sarcomas" EXACT [MESH:D018203] synonym: "endometrioid stromal sarcoma" EXACT [NCIT:C8973] synonym: "endometrioid stromal sarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "endometrioid stromal sarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "ess" EXACT [DOID:4226, NCIT:C8973, ONCOTREE:ESS] synonym: "sarcomas, endometrial stromal" EXACT [MESH:D018203] synonym: "stromal sarcoma of the corpus uteri" EXACT [Orphanet:213711] synonym: "stromal sarcoma, endometrial" EXACT [MESH:D018203] synonym: "stromal sarcoma, endometrial, malignant" EXACT [NCIT:C8973] synonym: "stromal sarcomas, endometrial" EXACT [MESH:D018203] synonym: "undifferentiated endometrial sarcoma" EXACT [DOID:4226, NCIT:C8972] xref: DOID:4226 {source="EFO:1000919", source="MONDO:equivalentTo"} xref: EFO:1000919 {source="MONDO:equivalentTo"} xref: GARD:0006339 {source="MONDO:equivalentTo"} xref: ICD10:C54.1 {source="Orphanet:213711", source="ORDO:213711/ntbt"} xref: ICDO:8930/3 {source="NCIT:C8973"} xref: MedDRA:10048397 {source="EFO:1000919"} xref: MedDRA:10057649 {source="Orphanet:213711", source="Orphanet:213711/e"} xref: MedDRA:10057649 {source="Orphanet:213711", source="ORDO:213711/e"} xref: MESH:D018203 {source="DOID:4226", source="EFO:1000919", source="Orphanet:213711", source="MONDO:equivalentTo", source="Orphanet:213711/e"} xref: MESH:D018203 {source="DOID:4226", source="EFO:1000919", source="Orphanet:213711", source="ORDO:213711/e", source="MONDO:equivalentTo"} xref: MONDO:0006745 xref: NCIT:C8973 {source="DOID:4226", source="MONDO:equivalentTo"} xref: ONCOTREE:ESS {source="MONDO:equivalentTo"} xref: Orphanet:213711 {source="MONDO:equivalentTo"} xref: SCTID:699356008 {source="DOID:4226", source="EFO:1000919", source="MONDO:equivalentTo"} xref: UMLS:C0206630 {source="DOID:4226", source="NCIT:C8973", source="Orphanet:213711", source="ORDO:213711/e", source="MONDO:equivalentTo"} xref: UMLS:C0206630 {source="DOID:4226", source="NCIT:C8973", source="Orphanet:213711", source="MONDO:equivalentTo", source="Orphanet:213711/e"} xref: UMLS:C2239246 {source="MONDO:equivalentTo"} is_a: EFO:0000691 {source="EFO:1000919", source="MESH:D018203/inferred", source="NCIT:C8973/inferred"} ! sarcoma is_a: EFO:1000920 {source="DOID:4226", source="MESH:D018203"} ! endometrial stromal tumor is_a: MONDO:0011962 ! endometrial cancer property_value: closeMatch http://identifiers.org/meddra/10048397 property_value: closeMatch http://identifiers.org/meddra/10048397 property_value: closeMatch http://identifiers.org/meddra/10057649 property_value: closeMatch http://identifiers.org/snomedct/70555003 property_value: exactMatch DOID:4226 property_value: exactMatch DOID:4226 property_value: exactMatch http://identifiers.org/meddra/10057649 property_value: exactMatch http://identifiers.org/mesh/D018203 property_value: exactMatch http://identifiers.org/mesh/D018203 property_value: exactMatch http://identifiers.org/snomedct/699356008 property_value: exactMatch http://identifiers.org/snomedct/699356008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206630 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206630 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2239246 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2239246 property_value: exactMatch NCIT:C8973 property_value: exactMatch NCIT:C8973 property_value: exactMatch Orphanet:213711 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: excluded_subClassOf MONDO:0016253 {source="Orphanet:213711"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6339/endometrial-stromal-sarcoma xsd:anyURI {source="GARD:0006339"} [Term] id: EFO:1000920 name: endometrial stromal tumor def: "Neoplasms of the endometrial stroma that sometimes involve the MYOMETRIUM. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (SARCOMA, ENDOMETRIAL STROMAL)." [] def: "Neoplasms of the endometrial stroma that sometimes involve the myometrium. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (sarcoma, endometrial stromal)." [MESH:D036821] synonym: "endometrial stroma neoplasm" EXACT [] synonym: "endometrial stroma tumor" EXACT [MONDO:patterns/neoplasm] synonym: "endometrial stroma tumour" EXACT OMO:0003005 [] synonym: "endometrial Stromal neoplasm" EXACT [] synonym: "endometrial stromal neoplasm" EXACT [DOID:5166, NCIT:C8384] synonym: "endometrial stromal tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "endometrial stromal tumor (morphologic abnormality)" EXACT [DOID:5166] synonym: "Endometrial Stromal Tumors" EXACT [] synonym: "endometrial stromal tumour (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "neoplasm of endometrial stroma" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of endometrial stroma" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of endometrial stroma" EXACT OMO:0003005 [] xref: DOID:5166 {source="MONDO:equivalentTo"} xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D036821 {source="MONDO:equivalentTo", source="DOID:5166"} xref: MeSH:D036821 xref: MONDO:0003311 xref: SCTID:446887007 {source="MONDO:equivalentTo", source="DOID:5166"} xref: SNOMEDCT:68738004 xref: UMLS:C0334695 {source="MONDO:equivalentTo", source="DOID:5166"} is_a: EFO:0004230 ! endometrial neoplasm is_a: MONDO:0021251 {source="MONDO:Redundant"} ! endometrium neoplasm property_value: exactMatch DOID:5166 property_value: exactMatch http://identifiers.org/mesh/D036821 property_value: exactMatch http://identifiers.org/snomedct/446887007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334695 property_value: excluded_subClassOf MONDO:0011962 {source="DOID:5166"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000921 name: endomyocardial fibrosis def: "A condition characterized by the thickening of the ventricular ENDOCARDIUM and subendocardium (MYOCARDIUM), seen mostly in children and young adults in the TROPICAL CLIMATE. The fibrous tissue extends from the apex toward and often involves the HEART VALVES causing restrictive blood flow into the respective ventricles (CARDIOMYOPATHY, RESTRICTIVE)." [] def: "A disease characterized by fibrotic thickening of the endocardium, particularly the right and/or left inflow tracts. The disease often involves the atrioventricular valves, leading to valvular regurgitaion. It most commonly occurs in children living within 15 degrees of the equator." [NCIT:C34585] subset: gard_rare {source="GARD:0006340"} synonym: "(Becker's disease) or (obscure African cardiomyopathy)" EXACT [] synonym: "African endomyocardial fibrosis" EXACT [DOID:12932] synonym: "Becker's disease" EXACT [] synonym: "Endomyocardial Fibrosis" EXACT [] synonym: "endomyocardial fibrosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Endomyocardial sclerosis" EXACT [] synonym: "endomyocardial sclerosis" EXACT [DOID:12932] synonym: "obscure African cardiomyopathy" EXACT [DOID:12932] synonym: "Obscure African cardiomyopathy (disorder)" EXACT [] xref: DOID:12932 {source="MONDO:equivalentTo", source="EFO:1000921"} xref: ICD9:425.0 {source="DOID:12932"} xref: MedDRA:10014800 {source="EFO:1000921"} xref: MESH:D004719 {source="DOID:12932", source="MONDO:equivalentTo", source="EFO:1000921"} xref: MeSH:D004719 xref: MONDO:0006746 xref: NCIT:C34585 {source="DOID:12932", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000921"} xref: NCIt:C34585 xref: SNOMEDCT:398716006 is_a: EFO:0002630 {source="DOID:12932", source="EFO:1000921"} ! restrictive cardiomyopathy is_a: EFO:0006890 ! fibrosis intersection_of: EFO:0006890 ! fibrosis intersection_of: EFO:0000784 UBERON:0002349 ! has_disease_location myocardium property_value: closeMatch http://identifiers.org/meddra/10014800 property_value: exactMatch DOID:12932 property_value: exactMatch http://identifiers.org/mesh/D004719 property_value: exactMatch NCIT:C34585 property_value: IAO:0000117 "Dani Welter" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6340/endomyocardial-fibrosis xsd:anyURI {source="GARD:0006340"} [Term] id: EFO:1000922 name: enterotoxemia def: "Disease caused by the liberation of exotoxins of CLOSTRIDIUM PERFRINGENS in the intestines of sheep, goats, cattle, foals, and piglets. Type B enterotoxemia in lambs is lamb dysentery; type C enterotoxemia in mature sheep produces \"struck\", and in calves, lambs and piglets it produces hemorrhagic enterotoxemia; type D enterotoxemia in sheep and goats is pulpy-kidney disease or overeating disease." [] def: "Disease caused by the liberation of exotoxins of clostridium perfringens in the intestines of sheep, goats, cattle, foals, and piglets. Type B enterotoxemia in lambs is lamb dysentery; type C enterotoxemia in mature sheep produces 'struck', and in calves, lambs and piglets it produces hemorrhagic enterotoxemia; type D enterotoxemia in sheep and goats is pulpy-kidney disease or overeating disease." [MESH:D004767] synonym: "Enterotoxemia" EXACT [] synonym: "enterotoxemia" EXACT [] {comment="preferred label from MONDO"} xref: DOID:3583 xref: ICD9:799.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D004767 {source="MONDO:equivalentTo", source="EFO:1000922"} xref: MeSH:D004767 xref: MONDO:0006747 xref: SCTID:370514003 {source="MONDO:equivalentTo", source="EFO:1000922"} xref: SNOMEDCT:370514003 xref: UMLS:C0014371 {source="MONDO:equivalentTo"} is_a: MONDO:0024913 ! cattle disease is_a: MONDO:0024950 ! horse disease is_a: MONDO:0024985 ! sheep disease is_a: MONDO:0024990 ! swine disease is_a: MONDO:0025003 ! goat disease property_value: exactMatch http://identifiers.org/mesh/D004767 property_value: exactMatch http://identifiers.org/snomedct/370514003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014371 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: RO:0002175 NCBITaxon:9796 property_value: RO:0002175 NCBITaxon:9823 property_value: RO:0002175 NCBITaxon:9913 property_value: RO:0002175 NCBITaxon:9925 property_value: RO:0002175 NCBITaxon:9940 [Term] id: EFO:1000923 name: epidural neoplasm def: "Neoplasms located in the space between the vertebral PERIOSTEUM and DURA MATER surrounding the SPINAL CORD. Tumors in this location are most often metastatic in origin and may cause neurologic deficits by mass effect on the spinal cord or nerve roots or by interfering with blood supply to the spinal cord." [] synonym: "Epidural Neoplasms" EXACT [] synonym: "epidural spinal canal neoplasm" EXACT [] synonym: "Extradural tumor" EXACT [] xref: DOID:3618 xref: MeSH:D015174 xref: NCIt:C3019 is_a: EFO:0003828 ! spinal cord neoplasm property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000924 name: epilepsia partialis continua def: "A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. ELECTROENCEPHALOGRAPHY demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the CEREBRAL CORTEX or from subcortical structures (e.g., BRAIN STEM; BASAL GANGLIA). This condition is associated with Russian Spring and Summer encephalitis (see ENCEPHALITIS, TICK BORNE); Rasmussen syndrome (see ENCEPHALITIS); MULTIPLE SCLEROSIS; DIABETES MELLITUS; BRAIN NEOPLASMS; and CEREBROVASCULAR DISORDERS. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319)" [] def: "A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. electroencephalography demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the cerebral cortex or from subcortical structures (e.g., brain stem; basal ganglia). This condition is associated with Russian Spring and Summer encephalitis (see encephalitis, tick borne); Rasmussen syndrome (see encephalitis); multiple sclerosis; diabetes mellitus; brain neoplasms; and cerebrovascular disorders. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319)" [MESH:D017036] synonym: "Epilepsia Partialis Continua" EXACT [] synonym: "epilepsia partialis continua" EXACT [] {comment="preferred label from MONDO"} xref: DOID:11349 xref: ICD9:345.7 {source="EFO:1000924"} xref: ICD9:345.70 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10015034 {source="EFO:1000924"} xref: MedDRA:10015035 xref: MedDRA:10015036 xref: MESH:D017036 {source="MONDO:equivalentTo", source="EFO:1000924"} xref: MeSH:D017036 xref: MONDO:0006748 xref: SCTID:241006 {source="MONDO:equivalentTo", source="EFO:1000924"} xref: SNOMEDCT:241006 is_a: EFO:0000474 {source="EFO:1000924", source="MESH:D017036/inferred"} ! epilepsy property_value: closeMatch http://identifiers.org/meddra/10015034 property_value: exactMatch http://identifiers.org/mesh/D017036 property_value: exactMatch http://identifiers.org/snomedct/241006 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000925 name: epithelioid and spindle cell nevus def: "A melanoma characterized by the presence of malignant large epithelioid melanocytes and malignant spindle-shaped melanocytes." [NCIT:C66756] synonym: "mixed epithelioid and spindle cell melanoma" EXACT [NCIT:C66756] synonym: "mixed epithelioid and spindle cell melanoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:1000925 {source="MONDO:equivalentTo"} xref: ICDO:8770/3 {source="NCIT:C66756"} xref: MESH:D018332 {source="EFO:1000925", source="MONDO:equivalentTo"} xref: NCIT:C66756 {source="EFO:1000925", source="MONDO:equivalentTo"} xref: SCTID:254811006 {source="EFO:1000925", source="MONDO:equivalentTo"} is_a: EFO:0000625 ! nevus is_a: EFO:0000756 ! melanoma property_value: closeMatch DOID:2413 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0334442 property_value: exactMatch http://identifiers.org/mesh/D018332 property_value: exactMatch http://identifiers.org/snomedct/254811006 property_value: exactMatch NCIT:C66756 [Term] id: EFO:1000926 name: Erdheim-Chester disease def: "Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement." [Orphanet:35687] subset: ordo_disease {source="Orphanet:35687"} synonym: "ECD" RELATED ABBREVIATION [ONCOTREE:ECD] synonym: "Erdheim Chester disease" RELATED [GARD:0006369] synonym: "Erdheim-Chester disease" EXACT [NCIT:C53972] synonym: "Erdheim-Chester disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Erdheim-Chester disease" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "lipogranulomatosis" EXACT [NCIT:C53972] synonym: "lipoid granulomatosis" RELATED [GARD:0006369] synonym: "polyostotic sclerosing histiocytosis" EXACT [NCIT:C53972] xref: DOID:4329 {source="EFO:1000926", source="MONDO:equivalentTo"} xref: EFO:1000926 {source="MONDO:equivalentTo"} xref: GARD:0006369 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10:D76.3 {source="ORDO:35687/ntbt", source="Orphanet:35687"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10060801 {source="EFO:1000926", source="ORDO:35687/e", source="Orphanet:35687"} xref: MedDRA:10060801 {source="EFO:1000926", source="Orphanet:35687/e", source="Orphanet:35687"} xref: MESH:D031249 {source="EFO:1000926", source="Orphanet:35687/e", source="MONDO:equivalentTo", source="DOID:4329", source="Orphanet:35687"} xref: MESH:D031249 {source="EFO:1000926", source="MONDO:equivalentTo", source="DOID:4329", source="ORDO:35687/e", source="Orphanet:35687"} xref: MONDO:0018153 xref: NCIT:C53972 {source="EFO:1000926", source="MONDO:equivalentTo", source="DOID:4329", source="exact-label-match"} xref: NCIT:C53972 {source="EFO:1000926", source="MONDO:equivalentTo", source="DOID:4329", source="MONDO:exact-label-match"} xref: ONCOTREE:ECD {source="MONDO:equivalentTo"} xref: Orphanet:35687 {source="MONDO:equivalentTo"} xref: SCTID:699537002 {source="MONDO:equivalentTo", source="DOID:4329"} xref: UMLS:C0878675 {source="MONDO:equivalentTo", source="DOID:4329", source="NCIT:C53972", source="ORDO:35687/e", source="Orphanet:35687"} xref: UMLS:C0878675 {source="Orphanet:35687/e", source="MONDO:equivalentTo", source="DOID:4329", source="NCIT:C53972", source="Orphanet:35687"} is_a: MONDO:0015531 {source="DOID:4329", source="MESH:D031249", source="Orphanet:35687"} ! non-Langerhans cell histiocytosis is_a: MONDO:0017955 {source="Orphanet:35687"} ! granulomatous autoinflammatory syndrome relationship: disease_has_feature EFO:1000297 {source="NCIT:C53972"} ! Histiocytic and Dendritic Cell Neoplasm property_value: closeMatch http://identifiers.org/meddra/10060801 property_value: closeMatch http://identifiers.org/snomedct/703711007 property_value: exactMatch DOID:4329 property_value: exactMatch DOID:4329 property_value: exactMatch http://identifiers.org/meddra/10060801 property_value: exactMatch http://identifiers.org/mesh/D031249 property_value: exactMatch http://identifiers.org/mesh/D031249 property_value: exactMatch http://identifiers.org/snomedct/699537002 property_value: exactMatch http://identifiers.org/snomedct/699537002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0878675 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0878675 property_value: exactMatch NCIT:C53972 property_value: exactMatch NCIT:C53972 property_value: exactMatch Orphanet:35687 property_value: excluded_subClassOf MONDO:0005509 {source="EFO:1000926"} [Term] id: EFO:1000927 name: obsolete_Erysipelothrix infectious disease def: "Infections with bacteria of the genus ERYSIPELOTHRIX." [] synonym: "Erysipeloid (disorder)" EXACT [] synonym: "Erysipelothrix disease (disorder)" EXACT [] synonym: "Erysipelothrix Infections" EXACT [] synonym: "Seal finger (disorder)" EXACT [] xref: DOID:2470 xref: MeSH:D004889 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.95" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use: EFO:1000928 label: Erysipelothrix rhusiopathiae infectious disease" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000117 "Zoe May Pendlington" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_1000928 [Term] id: EFO:1000928 name: Erysipelothrix rhusiopathiae infectious disease def: "A disease caused by infection with Erysipelothrix rhusiopathiae." [MONDO:patterns/infectious_disease_by_agent] def: "An infection caused by Erysipelothrix rhusiopathiae that is almost wholly restricted to persons who in their occupation handle infected fish, shellfish, poultry, or meat. Three forms of this condition exist: a mild localized form manifested by local swelling and redness of the skin; a diffuse form that might present with fever; and a rare systemic form associated with endocarditis." [] synonym: "Erysipeloid" EXACT [] synonym: "erysipeloid" EXACT [MONDO:0000237] synonym: "Erysipeloid (disorder)" EXACT [] synonym: "Erysipelothrix disease (disorder)" EXACT [] synonym: "Erysipelothrix Infections" EXACT [] synonym: "Erysipelothrix infectious disease" EXACT [] synonym: "Erysipelothrix rhusiopathiae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Erysipelothrix rhusiopathiae disease or disorder" EXACT [] synonym: "Erysipelothrix rhusiopathiae infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Infection due to E. rhusiopathiae" EXACT [] synonym: "Infection due to Erysipelothrix rhusiopathiae" EXACT [] synonym: "Seal finger (disorder)" EXACT [] xref: DOID:0050061 {source="MONDO:equivalentTo"} xref: DOID:2471 xref: ICD10:A26 xref: ICD10CM:A26 {source="MONDO:equivalentTo"} xref: MESH:D004887 {source="EFO:1000928", source="MONDO:equivalentTo", source="DOID:0050061"} xref: MeSH:D004887 xref: MONDO:0006752 xref: SCTID:400105005 {source="MONDO:equivalentTo"} xref: UMLS:C1276801 {source="MONDO:equivalentTo"} is_a: MONDO:0006751 {source="MESH:D004887"} ! Erysipelothrix infectious disease property_value: exactMatch DOID:0050061 property_value: exactMatch http://identifiers.org/mesh/D004887 property_value: exactMatch http://identifiers.org/snomedct/400105005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1276801 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A26 property_value: excluded_subClassOf MONDO:0000314 {source="DOID:0050061"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5166 xsd:anyURI [Term] id: EFO:1000929 name: Escherichia coli meningitis def: "A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as OPPORTUNISTIC INFECTIONS in association with IMMUNOLOGIC DEFICIENCY SYNDROMES. In premature neonates the clinical presentation may be limited to ANOREXIA; VOMITING; lethargy; or respiratory distress. Full-term infants may have as additional features FEVER; SEIZURES; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400)" [] def: "A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as opportunistic infections in association with immunologic deficiency syndromes. In premature neonates the clinical presentation may be limited to anorexia; vomiting; lethargy; or respiratory distress. Full-term infants may have as additional features fever; seizures; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400)" [MESH:D020814] synonym: "Escherichia coli meningitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Escherichia coli meningitis (disorder)" EXACT [] synonym: "Meningitis due to E. coli" EXACT [] synonym: "Meningitis, Escherichia coli" EXACT [] xref: DOID:11578 xref: ICD9:320.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:320.82 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D020814 {source="EFO:1000929", source="MONDO:equivalentTo"} xref: MeSH:D020814 xref: MONDO:0006753 xref: SCTID:192655005 {source="EFO:1000929", source="MONDO:equivalentTo"} xref: SNOMEDCT:192655005 xref: UMLS:C0338395 {source="MONDO:equivalentTo"} is_a: EFO:1000831 {source="EFO:1000929", source="MESH:D020814"} ! bacterial meningitis property_value: exactMatch http://identifiers.org/mesh/D020814 property_value: exactMatch http://identifiers.org/snomedct/192655005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0338395 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000930 name: esophageal diverticulosis def: "A pathological condition characterized by the presence of a number of ESOPHAGEAL DIVERTICULA in the ESOPHAGUS." [] def: "A pathological condition characterized by the presence of a number of esophageal diverticula in the esophagus." [MESH:D045723] synonym: "Diverticulosis, Esophageal" EXACT [] synonym: "esophageal diverticulosis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:13185 {source="MONDO:equivalentTo", source="EFO:1000930"} xref: MESH:D045723 {source="DOID:13185", source="MONDO:equivalentTo", source="EFO:1000930"} xref: MeSH:D045723 xref: MONDO:0006754 xref: UMLS:C0917875 {source="DOID:13185", source="MONDO:equivalentTo"} is_a: EFO:0009544 {source="DOID:13185", source="MESH:D045723"} ! esophageal disease property_value: exactMatch DOID:13185 property_value: exactMatch http://identifiers.org/mesh/D045723 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0917875 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1000931 name: euthyroid sick syndrome def: "Abnormal thyroid function tests, low triiodothyronine with elevated reverse triiodothyronine, in the setting of non-thyroidal illness." [NCIT:P378] def: "Conditions of abnormal THYROID HORMONES release in patients with apparently normal THYROID GLAND during severe systemic illness, physical TRAUMA, and psychiatric disturbances. It can be caused by the loss of endogenous hypothalamic input or by exogenous drug effects. The most common abnormality results in low T3 THYROID HORMONE with progressive decrease in THYROXINE; (T4) and TSH. Elevated T4 with normal T3 may be seen in diseases in which THYROXINE-BINDING GLOBULIN synthesis and release are increased." [] synonym: "Euthyroid sick syndrome" EXACT [] synonym: "euthyroid sick syndrome" EXACT [DOID:2856, ICD9CM:790.94] synonym: "euthyroid sick syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Euthyroid Sick Syndromes" EXACT [] synonym: "sick euthyroid syndrome" EXACT [NCIT:C113170] synonym: "sick-euthyroid syndrome" EXACT [DOID:2856] synonym: "Sick-euthyroid syndrome (disorder)" EXACT [] xref: DOID:2856 {source="MONDO:equivalentTo", source="EFO:1000931"} xref: ICD10CM:E07.81 {source="MONDO:equivalentTo", source="DOID:2856"} xref: ICD9:790.94 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:1000931", source="DOID:2856"} xref: MedDRA:10015549 {source="EFO:1000931"} xref: MESH:D005067 {source="MONDO:equivalentTo", source="EFO:1000931", source="DOID:2856"} xref: MeSH:D005067 xref: MONDO:0006755 xref: NCIT:C113170 {source="MONDO:equivalentTo", source="EFO:1000931", source="DOID:2856"} xref: NCIt:C113170 xref: SCTID:237542005 {source="MONDO:equivalentTo", source="DOID:2856"} xref: UMLS:C0015190 {source="MONDO:equivalentTo", source="DOID:2856", source="NCIT:C113170"} is_a: EFO:1000627 {source="DOID:2856", source="EFO:1000931", source="ICD10CM:E07.81/inferred", source="MESH:D005067"} ! thyroid disease is_a: MONDO:0002254 {source="NCIT:C113170"} ! syndromic disease property_value: closeMatch http://identifiers.org/meddra/10015549 property_value: exactMatch DOID:2856 property_value: exactMatch http://identifiers.org/mesh/D005067 property_value: exactMatch http://identifiers.org/snomedct/237542005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015190 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E07.81 property_value: exactMatch NCIT:C113170 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000932 name: extracutaneous mastocytoma def: "A localized tumor consisting of mature mast cells. (WHO, 2001) -- 2003" [NCIT:C7136] subset: ordo_disease {source="Orphanet:66662"} synonym: "extracutaneous mastocytoma" EXACT [] {comment="preferred label from MONDO"} synonym: "extracutaneous mastocytoma" EXACT [DOID:4659, NCIT:C7136] synonym: "extracutaneous mastocytoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: DOID:4659 {source="MONDO:equivalentTo", source="EFO:1000932"} xref: EFO:1000932 {source="MONDO:equivalentTo"} xref: ICD10:C96.2 {source="ORDO:66662/ntbt", source="Orphanet:66662"} xref: ICDO:9740/1 {source="NCIT:C7136"} xref: MONDO:0019025 xref: NCIT:C7136 {source="MONDO:equivalentTo", source="DOID:4659", source="MONDO:exact-label-match", source="EFO:1000932"} xref: NCIT:C7136 {source="MONDO:equivalentTo", source="DOID:4659", source="exact-label-match", source="EFO:1000932"} xref: Orphanet:66662 {source="MONDO:equivalentTo"} xref: SCTID:63175003 {source="MONDO:equivalentTo", source="DOID:4659", source="EFO:1000932"} xref: UMLS:C0272202 {source="NCIT:C7136", source="Orphanet:66662/e", source="MONDO:equivalentTo", source="DOID:4659", source="Orphanet:66662"} xref: UMLS:C0272202 {source="NCIT:C7136", source="MONDO:equivalentTo", source="DOID:4659", source="ORDO:66662/e", source="Orphanet:66662"} is_a: MONDO:0003079 {source="NCIT:C7136"} ! mastocytoma is_a: MONDO:0016586 {source="DOID:4659"} ! systemic mastocytosis property_value: closeMatch http://identifiers.org/mesh/D034801 property_value: exactMatch DOID:4659 property_value: exactMatch DOID:4659 property_value: exactMatch http://identifiers.org/snomedct/63175003 property_value: exactMatch http://identifiers.org/snomedct/63175003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272202 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272202 property_value: exactMatch NCIT:C7136 property_value: exactMatch NCIT:C7136 property_value: exactMatch Orphanet:66662 [Term] id: EFO:1000933 name: extrahepatic cholestasis def: "Impairment of bile flow in the large BILE DUCTS by mechanical obstruction or stricture due to benign or malignant processes." [] def: "Impairment of the bile flow caused by an obstruction in the portion of the bile duct system located outside of the liver." [NCIT:P378] synonym: "cholestasis of extrahepatic bile duct" EXACT [MONDO:design_pattern] synonym: "Cholestasis, Extrahepatic" EXACT [] synonym: "extrahepatic bile duct cholestasis" EXACT [MONDO:patterns/location] synonym: "extrahepatic biliary Stasis" EXACT [] synonym: "extrahepatic biliary stasis" EXACT [DOID:13619, NCIT:C34420] synonym: "extrahepatic cholestasis" EXACT [] {comment="preferred label from MONDO"} synonym: "extrahepatic cholestasis (finding)" EXACT [DOID:13619] synonym: "extrahepatic obstructive biliary disease" EXACT [DOID:13619] synonym: "extrahepatic obstructive biliary disease (disorder)" EXACT [] xref: DOID:13619 {source="MONDO:equivalentTo", source="EFO:1000933"} xref: MedDRA:10008637 {source="EFO:1000933"} xref: MESH:D001651 {source="DOID:13619", source="MONDO:equivalentTo", source="EFO:1000933"} xref: MeSH:D001651 xref: MONDO:0006757 xref: NCIt:C34420 xref: SCTID:8262006 {source="DOID:13619", source="MONDO:equivalentTo"} xref: SNOMEDCT:20719006 xref: UMLS:C0005398 {source="DOID:13619", source="MONDO:equivalentTo"} is_a: EFO:1000400 {source="EFO:1000933"} ! Non-Neoplastic Bile Duct Disorder is_a: MONDO:0001751 {source="DOID:13619", source="MESH:D001651", source="MONDO:Redundant"} ! cholestasis property_value: closeMatch http://identifiers.org/meddra/10008637 property_value: exactMatch DOID:13619 property_value: exactMatch http://identifiers.org/mesh/D001651 property_value: exactMatch http://identifiers.org/snomedct/8262006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005398 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1000934 name: eyelid neoplasm def: "A benign or malignant neoplasm that affects the eyelid. Representative examples include hemangioma, nevus, and carcinoma." [NCIT:C3031] def: "Tumors of cancer of the EYELIDS." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98580"} synonym: "eyelid neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "eyelid neoplasm" EXACT [NCIT:C3031] synonym: "eyelid neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "Eyelid Neoplasms" EXACT [] synonym: "eyelid tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3031] synonym: "eyelid tumour" EXACT OMO:0003005 [] synonym: "neoplasm of eyelid" EXACT [MONDO:patterns/neoplasm, NCIT:C3031] synonym: "neoplasm of the eyelid" EXACT [NCIT:C3031] synonym: "palpebral tumor" EXACT [MONDO:0020171] synonym: "palpebral tumour" EXACT OMO:0003005 [] synonym: "tumor of eyelid" EXACT [MONDO:patterns/neoplasm, NCIT:C3031] synonym: "tumor of the eyelid" EXACT [DOID:2173, NCIT:C3031] synonym: "tumour of eyelid" EXACT OMO:0003005 [] synonym: "tumour of the eyelid" EXACT OMO:0003005 [] xref: DOID:2173 {source="MONDO:equivalentTo"} xref: MESH:D005142 {source="MONDO:equivalentTo", source="DOID:2173"} xref: MeSH:D005142 xref: MONDO:0002235 xref: NCIT:C3031 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:2173"} xref: NCIt:C3031 xref: Orphanet:98580 {source="MONDO:equivalentObsolete"} xref: SCTID:278697001 {source="MONDO:equivalentTo", source="DOID:2173"} xref: UMLS:C0015424 {source="NCIT:C3031", source="MONDO:equivalentTo", source="Orphanet:98580", source="DOID:2173"} is_a: EFO:0003824 {source="MONDO:Redundant", source="NCIT:C3031"} ! eye neoplasm is_a: EFO:0004198 {source="DOID:2173", source="EFO:1000934", source="MONDO:Entailed"} ! skin neoplasm is_a: EFO:0009547 {source="MESH:D005142", source="MONDO:Entailed", source="NCIT:C3031", source="Orphanet:98580"} ! eyelid disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0020151"} ! rare property_value: exactMatch DOID:2173 property_value: exactMatch http://identifiers.org/mesh/D005142 property_value: exactMatch http://identifiers.org/snomedct/278697001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015424 property_value: exactMatch NCIT:C3031 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000935 name: female genital tuberculosis def: "MYCOBACTERIUM infections of the female reproductive tract (GENITALIA, FEMALE)." [] def: "Mycobacterium infections of the female reproductive tract (genitalia, female)." [MESH:D014384] synonym: "female genital tuberculosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Tuberculosis, Female Genital" EXACT [] xref: DOID:13175 xref: MedDRA:10061150 {source="EFO:1000935"} xref: MESH:D014384 {source="MONDO:equivalentTo", source="EFO:1000935"} xref: MeSH:D014384 xref: MONDO:0006758 xref: SCTID:74181004 {source="MONDO:equivalentTo", source="EFO:1000935"} xref: SNOMEDCT:74181004 is_a: EFO:0000512 {source="EFO:1000935"} ! reproductive system disease is_a: EFO:0009549 ! female reproductive system disease property_value: closeMatch http://identifiers.org/meddra/10061150 property_value: exactMatch http://identifiers.org/mesh/D014384 property_value: exactMatch http://identifiers.org/snomedct/74181004 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1000936 name: femoral neuropathy def: "Disease involving the femoral nerve. The femoral nerve may be injured by ISCHEMIA (e.g., in association with DIABETIC NEUROPATHIES), nerve compression, trauma, COLLAGEN DISEASES, and other disease processes. Clinical features include MUSCLE WEAKNESS or PARALYSIS of hip flexion and knee extension, ATROPHY of the QUADRICEPS MUSCLE, reduced or absent patellar reflex, and impaired sensation over the anterior and medial thigh." [] def: "Neuropathy of the femoral nerve." [NCIT:P378] synonym: "femoral nerve dysfunction" EXACT [DOID:4196] synonym: "Femoral nerve lesions" EXACT [] synonym: "femoral nerve lesions" EXACT [DOID:4196] synonym: "femoral nerve peripheral nerve lesion" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "Femoral Neuropathy" EXACT [] synonym: "femoral neuropathy" EXACT [] {comment="preferred label from MONDO"} synonym: "Femoral neuropathy (disorder)" EXACT [] synonym: "peripheral nerve lesion of femoral nerve" EXACT [MONDO:design_pattern] xref: DOID:4196 {source="EFO:1000936", source="MONDO:equivalentTo"} xref: ICD9:355.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D020428 {source="EFO:1000936", source="MONDO:equivalentTo", source="DOID:4196"} xref: MeSH:D020428 xref: MONDO:0006759 xref: NCIT:C27595 {source="EFO:1000936", source="MONDO:equivalentTo", source="DOID:4196"} xref: NCIt:C27595 xref: SCTID:25690000 {source="EFO:1000936", source="MONDO:equivalentTo", source="DOID:4196"} xref: SNOMEDCT:25690000 xref: UMLS:C0751931 {source="NCIT:C27595", source="MONDO:equivalentTo", source="DOID:4196"} is_a: EFO:0009558 {source="DOID:4196", source="MESH:D020428"} ! mononeuropathy is_a: MONDO:0024334 ! peripheral nerve lesion property_value: exactMatch DOID:4196 property_value: exactMatch http://identifiers.org/mesh/D020428 property_value: exactMatch http://identifiers.org/snomedct/25690000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751931 property_value: exactMatch NCIT:C27595 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000937 name: fetal erythroblastosis def: "A condition characterized by the abnormal presence of ERYTHROBLASTS in the circulation of the FETUS or NEWBORNS. It is a disorder due to BLOOD GROUP INCOMPATIBILITY, such as the maternal alloimmunization by fetal antigen RH FACTORS leading to HEMOLYSIS of ERYTHROCYTES, hemolytic anemia (ANEMIA, HEMOLYTIC), general edema (HYDROPS FETALIS), and SEVERE JAUNDICE IN NEWBORN." [] def: "A disorder of the fetus or newborn that occurs when fetal cells that are coated with IgG alloantibodies from the mother attack antigens inherited from the father. Severity can range from absence of symptoms to death." [NCIT:P378] synonym: "(Haemolytic disease due to rhesus isoimmunisation) or (erythroblastosis fetalis) or (rhesus isoimmunisation of the newborn)" EXACT [] synonym: "EF - Erythroblastosis foetalis" EXACT [] synonym: "EF - erythroblastosis foetalis" EXACT [DOID:1098] synonym: "erythroblastosis fetalis" EXACT [DOID:1098] synonym: "Erythroblastosis, Fetal" EXACT [] synonym: "fetal erythroblastosis" EXACT [] {comment="preferred label from MONDO"} synonym: "haemolytic disease due to rhesus isoimmunisation" EXACT [DOID:1098] synonym: "HDFN" EXACT ABBREVIATION [NCIT:C101304] synonym: "hemolytic disease of the fetus or newborn" EXACT [NCIT:C101304] synonym: "hemolytic disease of the foetus or newborn" EXACT OMO:0003005 [] synonym: "hemolytic disease of the newborn" EXACT [NCIT:C101304] synonym: "isoimmune hemolytic disease of the newborn" EXACT [NCIT:C101304] synonym: "rhesus isoimmunisation of the newborn" EXACT [DOID:1098] xref: DOID:1098 {source="EFO:1000937", source="MONDO:equivalentTo"} xref: ICD9:773 {source="DOID:1098"} xref: ICD9:773.2 {source="DOID:1098", source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D004899 {source="DOID:1098", source="EFO:1000937", source="MONDO:equivalentTo"} xref: MeSH:D004899 xref: MONDO:0006760 xref: NCIT:C101304 {source="DOID:1098", source="MONDO:equivalentTo"} xref: SCTID:387705004 {source="DOID:1098", source="MONDO:equivalentTo"} xref: UMLS:C0014761 {source="DOID:1098", source="MONDO:equivalentTo", source="NCIT:C101304"} is_a: MONDO:0001245 {source="DOID:1098"} ! microcytic anemia relationship: EFO:0000784 CL:0000765 ! has_disease_location erythroblast property_value: exactMatch DOID:1098 property_value: exactMatch http://identifiers.org/mesh/D004899 property_value: exactMatch http://identifiers.org/snomedct/387705004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014761 property_value: exactMatch NCIT:C101304 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000938 name: fibromuscular dysplasia def: "A disorder characterized by fibrous thickening of the arterial wall resulting in narrowing of the arterial lumen. It most often affects the renal artery and less often the carotid artery and abdominal arteries. It can cause hypertension and aneurysm formation." [NCIT:P378] def: "An idiopathic, segmental, nonatheromatous disease of the musculature of arterial walls, leading to STENOSIS of small and medium-sized arteries. There is true proliferation of SMOOTH MUSCLE CELLS and fibrous tissue. Fibromuscular dysplasia lesions are smooth stenosis and occur most often in the renal and carotid arteries. They may also occur in other peripheral arteries of the extremity." [] synonym: "Fibromuscular Dysplasia" EXACT [] synonym: "fibromuscular dysplasia" EXACT [] {comment="preferred label from MONDO"} synonym: "fibromuscular dysplasia" EXACT [OMIM:135580] synonym: "Fibromuscular dysplasia (morphologic abnormality)" EXACT [] synonym: "fibromuscular dysplasia of arteries" EXACT [OMIM:135580] synonym: "Fibromuscular hyperplasia of arteries NOS (disorder)" EXACT [] synonym: "Fibromuscular hyperplasia of artery" EXACT [] synonym: "Fibromuscular hyperplasia of artery (disorder)" EXACT [] synonym: "Fibromuscular hyperplasia of artery [Ambiguous]" EXACT [] synonym: "FMDA" EXACT ABBREVIATION [OMIM:135580] xref: DOID:2389 xref: MedDRA:10054794 {source="EFO:1000938"} xref: MESH:C537929 {source="MONDO:equivalentTo"} xref: MESH:D005352 {source="EFO:1000938", source="MONDO:equivalentTo"} xref: MeSH:D005352 xref: MONDO:0006761 xref: NCIT:C84714 {source="EFO:1000938", source="MONDO:equivalentTo"} xref: NCIt:C84714 xref: OMIM:135580 {source="MONDO:equivalentTo"} xref: Orphanet:336 {source="OMIM:135580", source="MONDO:equivalentObsolete"} xref: SNOMEDCT:31653004 xref: UMLS:C1851111 {source="OMIM:135580", source="MONDO:equivalentObsolete", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/1029"} ! genetic disorder is_a: MONDO:0000473 {source="https://github.com/monarch-initiative/mondo/issues/1029"} ! arterial disorder property_value: closeMatch http://identifiers.org/meddra/10054794 property_value: exactMatch http://identifiers.org/mesh/C537929 property_value: exactMatch http://identifiers.org/mesh/D005352 property_value: exactMatch https://omim.org/entry/135580 property_value: exactMatch NCIT:C84714 property_value: excluded_subClassOf MONDO:0004995 {source="EFO:1000938", source="MESH:D005352/inferred"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000939 name: freemartinism def: "A condition occurring in the female offspring of dizygotic twins (TWIN, DIZYGOTIC) in a mixed-sex pregnancy, usually in CATTLE. Freemartinism can occur in other mammals. When placental fusion between the male and the female FETUSES permits the exchange of fetal cells and fetal hormones, TESTICULAR HORMONES from the male fetus can androgenize the female fetus producing a sterile XX/XY chimeric \"female\"(CHIMERISM)." [] def: "A condition occurring in the female offspring of dizygotic twins (twin, dizygotic) in a mixed-sex pregnancy, usually in cattle. Freemartinism can occur in other mammals. When placental fusion between the male and the female fetuses permits the exchange of fetal cells and fetal hormones, testicular hormones from the male fetus can androgenize the female fetus producing a sterile xx/xy chimeric 'female'(chimerism)." [MESH:D005611] synonym: "Freemartinism" EXACT [] synonym: "freemartinism" EXACT [] {comment="preferred label from MONDO"} xref: DOID:4671 {source="EFO:1000939", source="MONDO:equivalentTo"} xref: MESH:D005611 {source="EFO:1000939", source="MONDO:equivalentTo", source="DOID:4671"} xref: MeSH:D005611 xref: MONDO:0006762 xref: UMLS:C0016697 {source="MONDO:equivalentTo", source="DOID:4671"} is_a: MONDO:0024913 {source="MESH:D005611"} ! cattle disease is_a: MONDO:0700105 ! difference of sexual differentiation, non-human animal property_value: exactMatch DOID:4671 property_value: exactMatch http://identifiers.org/mesh/D005611 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016697 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: RO:0002175 NCBITaxon:9913 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} [Term] id: EFO:1000940 name: Frey Syndrome def: "An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with PAROTID NEOPLASMS, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5)" [] def: "An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with parotid neoplasms, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5)" [MESH:D013547] synonym: "auriculotemporal nerve syndrome" RELATED [OMIM:144100] synonym: "Baillarger Syndrome" EXACT [] synonym: "Baillarger syndrome" EXACT [DOID:11599] synonym: "Frey syndrome" EXACT [OMIM:144100] synonym: "Frey syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Frey's syndrome" RELATED [GARD:0006467] synonym: "gustatory hyperhidrosis" EXACT [DOID:11599] synonym: "Gustatory hyperhidrosis (disorder)" EXACT [] synonym: "gustatory sweating" EXACT [DOID:11599, OMIM:144100] synonym: "Gustatory sweating (finding)" EXACT [] synonym: "hyperhidrosis gustatory" RELATED [GARD:0006467] synonym: "hyperhidrosis, gustatory" RELATED [MONDO:Lexical, OMIM:144100] synonym: "HYPRG" RELATED ABBREVIATION [MONDO:Lexical, OMIM:144100] synonym: "Sweating, Gustatory" EXACT [] xref: DOID:11599 {source="MONDO:equivalentTo", source="EFO:1000940"} xref: MESH:D013547 {source="DOID:11599", source="MONDO:equivalentTo", source="EFO:1000940"} xref: MeSH:D013547 xref: MONDO:0007753 xref: OMIM:144100 {source="DOID:11599", source="MONDO:equivalentTo"} xref: SCTID:238758008 {source="DOID:11599", source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: EFO:0009532 {source="DOID:11599", source="MESH:D013547"} ! autonomic nervous system disease property_value: exactMatch DOID:11599 property_value: exactMatch http://identifiers.org/mesh/D013547 property_value: exactMatch http://identifiers.org/snomedct/238758008 property_value: exactMatch https://omim.org/entry/144100 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000941 name: frozen shoulder def: "A painful inflammatory process leads to a mechanical block in active and passive range of motion (ROM) of the shoulder. Adhesive capsulitis of the shoulder is characterized by functional loss of passive and active shoulder motion. This inflammatory process results in fibroblastic proliferation and extensive scar tissue formation. Fibroblastic proliferation, a late phase of the inflammatory process involved in tissue repair, leads to thickening, fibrosis, and adhesion of the capsule to itself and the humerus." [https://orcid.org/0000-0002-0736-9199, PMID:34772852] def: "Inflammation or irritation of a bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin." [] synonym: "adhesions-capsulitis,shoulder" EXACT [DOID:14188] synonym: "adhesive capsulitis" EXACT [https://orcid.org/0000-0002-0736-9199] synonym: "Adhesive capsulitis of shoulder" EXACT [] synonym: "adhesive capsulitis of shoulder" EXACT [DOID:14188, ICD9CM:726.0] synonym: "Bursitis" EXACT [] synonym: "frozen shoulder" EXACT [] {comment="preferred label from MONDO"} xref: DOID:14188 {source="MONDO:equivalentTo", source="EFO:1000941"} xref: ICD10CM:M75.0 {source="MONDO:equivalentTo", source="DOID:14188"} xref: ICD9:726.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14188"} xref: MedDRA:10017391 {source="EFO:1000941"} xref: MESH:D002062 {source="MONDO:relatedTo", source="DOID:14188", source="EFO:1000941"} xref: MeSH:D002062 xref: MONDO:0006763 xref: SCTID:399114005 {source="MONDO:equivalentTo", source="DOID:14188", source="EFO:1000941"} xref: SNOMEDCT:399114005 xref: UMLS:C0311223 {source="MONDO:equivalentTo", source="DOID:14188"} is_a: EFO:0002970 ! muscular disease is_a: EFO:1000999 ! joint disease property_value: closeMatch http://identifiers.org/meddra/10017391 property_value: exactMatch DOID:14188 property_value: exactMatch http://identifiers.org/snomedct/399114005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0311223 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/M75.0 property_value: excluded_subClassOf MONDO:0003939 {source="DOID:14188", source="EFO:1000941"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5366 xsd:anyURI [Term] id: EFO:1000942 name: fungal meningitis def: "Meningitis caused by fungal agents which may occur as OPPORTUNISTIC INFECTIONS or arise in immunocompetent hosts." [] def: "Meningitis caused by fungal agents which may occur as opportunistic infections or arise in immunocompetent hosts." [MESH:D016921] synonym: "fungal meningitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Fungal meningitis (disorder)" EXACT [] synonym: "Fungi caused infectious meningitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Fungi infectious meningitis" EXACT [] synonym: "Meningitis, Fungal" EXACT [] xref: DOID:11608 {source="MONDO:equivalentTo", source="EFO:1000942"} xref: ICD9:117.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:321.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10017538 {source="EFO:1000942"} xref: MESH:D016921 {source="MONDO:equivalentTo", source="DOID:11608", source="EFO:1000942"} xref: MeSH:D016921 xref: MONDO:0006764 xref: SCTID:24321005 {source="MONDO:equivalentTo", source="DOID:11608", source="EFO:1000942"} xref: SNOMEDCT:24321005 xref: UMLS:C0085438 {source="MONDO:equivalentTo", source="DOID:11608"} is_a: EFO:0000584 {source="DOID:11608", source="EFO:1000942", source="MESH:D016921", source="MONDO:Redundant"} ! infectious meningitis is_a: MONDO:0002041 ! fungal infectious disease property_value: closeMatch http://identifiers.org/meddra/10017538 property_value: exactMatch DOID:11608 property_value: exactMatch http://identifiers.org/mesh/D016921 property_value: exactMatch http://identifiers.org/snomedct/24321005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085438 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000943 name: Fusobacterium infectious disease def: "Infections with bacteria of the genus FUSOBACTERIUM." [] def: "Infections with bacteria of the genus fusobacterium." [MESH:D005674] synonym: "Fusobacterium caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Fusobacterium disease or disorder" EXACT [] synonym: "Fusobacterium Infections" EXACT [] synonym: "Fusobacterium infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "infection caused by Fusobacterium" RELATED [] synonym: "infection due to Fusobacterium" EXACT [] xref: DOID:3758 xref: ICD9:041.84 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MeSH:D005674 xref: MONDO:0006765 xref: SCTID:712657002 {source="MONDO:equivalentTo"} xref: UMLS:C4039413 {source="MONDO:equivalentTo"} is_a: EFO:1001126 ! primary Fusobacteriaceae infectious disease is_a: MONDO:0024389 ! anaerobic bacteria infectious disease property_value: exactMatch http://identifiers.org/snomedct/712657002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4039413 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000944 name: gait apraxia def: "Impaired ambulation not attributed to sensory impairment or motor weakness. FRONTAL LOBE disorders; BASAL GANGLIA DISEASES (e.g., PARKINSONIAN DISORDERS); DEMENTIA, MULTI-INFARCT; ALZHEIMER DISEASE; and other conditions may be associated with gait apraxia." [] def: "Impaired ambulation not attributed to sensory impairment or motor weakness. frontal lobe disorders; basal ganglia diseases (e.g., parkinsonian disorders); dementia, multi-infarct; alzheimer disease; and other conditions may be associated with gait apraxia." [MESH:D020235] synonym: "Gait Apraxia" EXACT [] synonym: "gait apraxia" EXACT [] {comment="preferred label from MONDO"} synonym: "Gait apraxia (finding)" EXACT [DOID:4260] xref: DOID:4260 {source="MONDO:equivalentTo", source="EFO:1000944"} xref: MedDRA:10070635 {source="EFO:1000944"} xref: MESH:D020235 {source="MONDO:equivalentTo", source="DOID:4260", source="EFO:1000944"} xref: MeSH:D020235 xref: MONDO:0006766 xref: SNOMEDCT:30767006 xref: UMLS:C1510417 {source="MONDO:equivalentTo", source="DOID:4260"} is_a: MONDO:0000665 {source="DOID:4260", source="MESH:D020235"} ! apraxia property_value: closeMatch http://identifiers.org/meddra/10070635 property_value: exactMatch DOID:4260 property_value: exactMatch http://identifiers.org/mesh/D020235 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1510417 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000945 name: gastric antral vascular ectasia def: "A distinct vascular lesion in the PYLORIC ANTRUM that is characterized by tortuous dilated blood vessels (ectasia) radiating outward from the PYLORUS. The vessel pattern resembles the stripes on the surface of a watermelon. This lesion causes both acute and chronic GASTROINTESTINAL HEMORRHAGE." [] def: "Dilatation of the vessels in the antrum of the stomach. It is associated with portal hypertension, scleroderma, and chronic renal failure. It may cause gastric bleeding." [NCIT:P378] synonym: "Gastric Antral Vascular Ectasia" EXACT [] synonym: "gastric antral vascular ectasia" EXACT [] {comment="preferred label from MONDO"} synonym: "gastric antral vascular ectasia (disorder)" EXACT [] synonym: "gave" EXACT [Wikipedia:Gastric_antral_vascular_ectasia] synonym: "watermelon stomach" EXACT [] synonym: "Watermelon stomach (disorder)" EXACT [] xref: DOID:2493 {source="MONDO:equivalentTo", source="EFO:1000945"} xref: MedDRA:10051585 {source="EFO:1000945"} xref: MESH:D020252 {source="MONDO:equivalentTo", source="DOID:2493", source="EFO:1000945"} xref: MeSH:D020252 xref: MONDO:0006767 xref: NCIT:C84724 {source="MONDO:equivalentTo", source="DOID:2493", source="EFO:1000945"} xref: NCIt:C84724 xref: SCTID:43935004 {source="MONDO:equivalentTo", source="DOID:2493"} is_a: EFO:0010282 ! gastrointestinal disease is_a: MONDO:0001574 {source="DOID:2493"} ! capillary disorder is_a: MONDO:0021658 {source="MONDO:cjm"} ! vascular ectasia property_value: closeMatch http://identifiers.org/meddra/10051585 property_value: exactMatch DOID:2493 property_value: exactMatch http://identifiers.org/mesh/D020252 property_value: exactMatch http://identifiers.org/snomedct/43935004 property_value: exactMatch NCIT:C84724 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000946 name: gastric mucosal hypertrophy def: "GASTRITIS with HYPERTROPHY of the GASTRIC MUCOSA. It is characterized by giant gastric folds, diminished acid secretion, excessive MUCUS secretion, and HYPOPROTEINEMIA. Symptoms include VOMITING; DIARRHEA; and WEIGHT LOSS." [] def: "MC)nC)trier disease (MD) is a rare premalignant hyperproliferative gastropathy characterized by massive overgrowth of foveolar cells in the gastric lining, resulting in large gastric folds, and manifesting with epigastric pain, nausea, vomiting, peripheral edema and, less commonly, anorexia and weight loss." [Orphanet:2494] subset: ordo_disease {source="Orphanet:2494"} synonym: "familial giant hypertrophic gastritis" EXACT [DOID:8757] synonym: "gastric mucosal hypertrophy" EXACT [] {comment="preferred label from MONDO"} synonym: "gastritis, familial giant hypertrophic" RELATED [OMIM:137280] synonym: "Gastritis, Hypertrophic" EXACT [] synonym: "Gastroenteropathy, protein losing" RELATED [GARD:0002436] synonym: "giant hypertrophic gastritis" EXACT [Orphanet:2494] synonym: "giant hypertrophic gastropathy" RELATED [GARD:0002436] synonym: "giant hypertrophy of the gastric mucosa" RELATED [GARD:0002436] synonym: "Giant rugal hypertrophy of stomach" EXACT [] synonym: "giant rugal hypertrophy of stomach" EXACT [DOID:8757] synonym: "hypertrophic gastritis" EXACT [DOID:8757] synonym: "hypertrophic gastropathy" EXACT [DOID:8757, GARD:0002436] synonym: "hypertrophic gastropathy (disorder)" EXACT [] synonym: "hypoproteinemic hypertrophic gastropathy" EXACT [Orphanet:2494] synonym: "MENETRIER DISEASE" EXACT [] synonym: "MENETRIER disease" EXACT [DOID:8757] synonym: "Menetrier disease" RELATED [OMIM:137280] synonym: "Menetrier's disease" EXACT [NCIT:C67277] synonym: "Ménétrier disease" EXACT [NCIT:C67277] xref: DOID:8757 {source="MONDO:equivalentTo", source="EFO:1000946"} xref: ICD9:535.2 {source="DOID:8757", source="EFO:1000946"} xref: ICD9:535.20 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:535.21 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10017807 {source="Orphanet:2494/e", source="EFO:1000946", source="Orphanet:2494"} xref: MedDRA:10017808 xref: MedDRA:10017809 xref: MedDRA:10017810 xref: MedDRA:10017868 {source="Orphanet:2494/e", source="Orphanet:2494"} xref: MedDRA:10055248 xref: MedDRA:10055792 xref: MedDRA:10055793 xref: MESH:D005758 {source="DOID:8757", source="MONDO:equivalentTo", source="EFO:1000946"} xref: MeSH:D005758 xref: MONDO:0007652 xref: NCIT:C67277 {source="DOID:8757", source="MONDO:equivalentTo"} xref: OMIM:137280 {source="Orphanet:2494/e", source="DOID:8757", source="MONDO:equivalentTo", source="Orphanet:2494"} xref: Orphanet:2494 {source="MONDO:equivalentTo", source="OMIM:137280"} xref: SCTID:60002000 {source="DOID:8757", source="MONDO:equivalentTo", source="EFO:1000946"} xref: SNOMEDCT:60002000 xref: UMLS:C0017155 {source="Orphanet:2494/e", source="DOID:8757", source="MONDO:equivalentTo", source="NCIT:C67277", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2494"} is_a: EFO:0000217 {source="DOID:8757", source="EFO:1000946", source="MESH:D005758", source="NCIT:C67277"} ! gastritis is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: MONDO:0015111 {source="Orphanet:2494"} ! gastroesophageal disease property_value: closeMatch http://identifiers.org/meddra/10017807 property_value: closeMatch http://identifiers.org/meddra/10017868 property_value: exactMatch DOID:8757 property_value: exactMatch http://identifiers.org/mesh/D005758 property_value: exactMatch http://identifiers.org/snomedct/60002000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017155 property_value: exactMatch https://omim.org/entry/137280 property_value: exactMatch NCIT:C67277 property_value: exactMatch Orphanet:2494 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000947 name: gastric outlet obstruction def: "The hindering of output from the STOMACH into the SMALL INTESTINE. This obstruction may be of mechanical or functional origin such as EDEMA from PEPTIC ULCER; NEOPLASMS; FOREIGN BODIES; or AGING." [] synonym: "gastric outflow obstruction" EXACT [] synonym: "Gastric Outlet Obstruction" EXACT [] xref: DOID:3122 xref: MedDRA:10062499 xref: MeSH:D017219 is_a: EFO:0000405 ! digestive system disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000948 name: gastroparesis def: "Chronic delayed gastric emptying. Gastroparesis may be caused by motor dysfunction or paralysis of STOMACH muscles or may be associated with other systemic diseases such as DIABETES MELLITUS." [] def: "Paralysis of the muscles of the stomach wall resulting in delayed emptying of the gastric contents into the small intestine." [NCIT:P378] synonym: "gastric atonia" EXACT [DOID:11914] synonym: "gastric atonia (disorder)" EXACT [] synonym: "Gastroparalysis" EXACT [] synonym: "gastroparalysis" EXACT [DOID:11914] synonym: "Gastroparesis" EXACT [] synonym: "gastroparesis" EXACT [] {comment="preferred label from MONDO"} synonym: "gastroparesis" EXACT [MONDO:ambiguous] synonym: "gastroparesis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "gastroparesis syndrome" EXACT [DOID:11914] synonym: "Gastroparesis syndrome (disorder) [Ambiguous]" EXACT [] xref: DOID:11914 {source="EFO:1000948", source="MONDO:equivalentTo"} xref: HP:0002578 {source="MONDO:otherHierarchy"} xref: ICD10CM:K31.84 {source="DOID:11914", source="MONDO:equivalentTo"} xref: ICD9:536.3 {source="DOID:11914"} xref: MedDRA:10018043 {source="EFO:1000948"} xref: MESH:D018589 {source="EFO:1000948", source="DOID:11914", source="MONDO:equivalentTo"} xref: MeSH:D018589 xref: MONDO:0006769 xref: NCIt:C80512 xref: SCTID:196753007 {source="DOID:11914", source="MONDO:equivalentTo"} xref: SNOMEDCT:235675006 xref: UMLS:C0152020 {source="DOID:11914", source="MONDO:equivalentTo"} is_a: MONDO:0001318 {source="DOID:11914"} ! functional gastric disease property_value: closeMatch http://identifiers.org/meddra/10018043 property_value: exactMatch DOID:11914 property_value: exactMatch http://identifiers.org/mesh/D018589 property_value: exactMatch http://identifiers.org/snomedct/196753007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152020 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K31.84 property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000589 "gastroparesis (disease)" xsd:string [Term] id: EFO:1000949 name: gastroschisis def: "A congenital defect with major fissure in the ABDOMINAL WALL lateral to, but not at, the UMBILICUS. This results in the extrusion of VISCERA. Unlike OMPHALOCELE, herniated structures in gastroschisis are not covered by a sac or PERITONEUM." [] def: "Gastroschisis is marked by viscera protruding, without a covering sac, from the fetal abdomen on the right lateral base of the umbilicus. It is due to defective embryo growth and other malformations are only exceptionally associated." [Orphanet:2368] subset: gard_rare {source="GARD:0008661"} subset: ordo_morphological_anomaly {source="Orphanet:2368"} synonym: "abdominal wall defects" RELATED [OMIM:230750] synonym: "congenital fissure of the abdominal cavity" RELATED [GARD:0008661] synonym: "eventration" BROAD [NCIT:C84725] synonym: "Gastroschisis" EXACT [] synonym: "gastroschisis" EXACT [OMIM:230750] synonym: "gastroschisis" EXACT [] {comment="preferred label from MONDO"} synonym: "Gastroschisis (disorder)" EXACT [] synonym: "laparoschisis" EXACT [Orphanet:2368] xref: DOID:11044 {source="EFO:1000949", source="MONDO:equivalentTo"} xref: ICD10CM:Q79.3 {source="Orphanet:2368", source="MONDO:equivalentTo", source="DOID:11044", source="Orphanet:2368/e"} xref: ICD9:756.73 {source="EFO:1000949", source="DOID:11044"} xref: MedDRA:10018046 {source="EFO:1000949", source="Orphanet:2368", source="Orphanet:2368/e"} xref: MESH:D020139 {source="EFO:1000949", source="Orphanet:2368", source="MONDO:equivalentTo", source="DOID:11044", source="Orphanet:2368/e"} xref: MeSH:D020139 xref: MONDO:0009264 xref: NCIT:C84725 {source="EFO:1000949", source="MONDO:equivalentTo", source="DOID:11044"} xref: NCIt:C84725 xref: OMIM:230750 {source="Orphanet:2368", source="MONDO:equivalentTo", source="DOID:11044", source="Orphanet:2368/e"} xref: Orphanet:2368 {source="MONDO:equivalentTo", source="OMIM:230750"} xref: SCTID:72951007 {source="EFO:1000949", source="MONDO:equivalentTo", source="DOID:11044"} xref: SNOMEDCT:72951007 xref: UMLS:C0265706 {source="Orphanet:2368", source="NCIT:C84725", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:11044", source="Orphanet:2368/e", source="OMIM:230750"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0018241 {source="Orphanet:2368"} ! primary short bowel syndrome is_a: MONDO:0100298 {source="https://orcid.org/0000-0001-5208-3432"} ! abdominal wall malformation property_value: closeMatch http://identifiers.org/meddra/10018046 property_value: exactMatch DOID:11044 property_value: exactMatch http://identifiers.org/mesh/D020139 property_value: exactMatch http://identifiers.org/snomedct/72951007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265706 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q79.3 property_value: exactMatch https://omim.org/entry/230750 property_value: exactMatch NCIT:C84725 property_value: exactMatch Orphanet:2368 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8661/gastroschisis xsd:anyURI {source="GARD:0008661"} [Term] id: EFO:1000950 name: giant cell reparative granuloma def: "A rare tumor-like lesion of the hands and feet characterized by the presence of hemorrhagic fibrous tissue, hemosiderin deposition, osteoclast-like giant cells which are irregularly distributed, and reactive bone formation. Pain and swelling are the most frequent symptoms. It may recur following curettage, but is usually cured after a second procedure." [NCIT:C121893] synonym: "central giant cell (reparative) granuloma" EXACT [DOID:1866, ICD9CM:526.3] synonym: "central giant cell (reparative) granuloma" EXACT [DOID:1866, ICD9CM_2006:526.3] synonym: "central giant cell granuloma" EXACT [DOID:1866] synonym: "central giant cell granuloma" EXACT [DOID:1866, MTHICD9_2006:526.3] synonym: "central giant cell reparative granuloma of jaw" EXACT [DOID:1866] synonym: "GCLSB" EXACT ABBREVIATION [NCIT:C121893] synonym: "giant cell lesion of small bones" EXACT [NCIT:C121893] synonym: "giant cell reparative granuloma" EXACT [] {comment="preferred label from MONDO"} synonym: "giant cell reparative granuloma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: DOID:1866 {source="MONDO:equivalentTo", source="EFO:1000950"} xref: EFO:1000950 {source="MONDO:equivalentTo"} xref: ICD10:M27.1 {source="DOID:1866"} xref: ICD9:526.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1866"} xref: ICD9:526.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:1866"} xref: MESH:D006101 {source="MONDO:equivalentTo", source="EFO:1000950", source="DOID:1866"} xref: MONDO:0006770 xref: NCIT:C121893 {source="MONDO:equivalentTo"} xref: SCTID:15350006 {source="MONDO:equivalentTo", source="DOID:1866"} xref: UMLS:C0162375 {source="MONDO:equivalentTo", source="DOID:1866", source="NCIT:C121893"} is_a: EFO:0007176 {source="DOID:1866", source="EFO:1000950"} ! bone giant cell tumor property_value: exactMatch DOID:1866 property_value: exactMatch DOID:1866 property_value: exactMatch http://identifiers.org/mesh/D006101 property_value: exactMatch http://identifiers.org/mesh/D006101 property_value: exactMatch http://identifiers.org/snomedct/15350006 property_value: exactMatch http://identifiers.org/snomedct/15350006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162375 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162375 property_value: exactMatch NCIT:C121893 property_value: exactMatch NCIT:C121893 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql [Term] id: EFO:1000951 name: glossitis def: "Inflammation of the tongue." [NCIT:P378] synonym: "Glossitis" EXACT [] synonym: "glossitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Glossitis (disorder)" EXACT [] synonym: "Glossitis NOS (disorder)" EXACT [] synonym: "inflammation of tongue" EXACT [] synonym: "tongue inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:1456 {source="MONDO:equivalentTo", source="EFO:1000951"} xref: ICD10CM:K14.0 {source="DOID:1456", source="MONDO:equivalentTo"} xref: ICD9:529.0 {source="DOID:1456", source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:1000951"} xref: MedDRA:10018386 {source="EFO:1000951"} xref: MESH:D005928 {source="DOID:1456", source="MONDO:equivalentTo", source="EFO:1000951"} xref: MeSH:D005928 xref: MONDO:0006771 xref: NCIt:C112199 xref: SCTID:45534005 {source="DOID:1456", source="MONDO:equivalentTo", source="EFO:1000951"} xref: SNOMEDCT:45534005 xref: UMLS:C0017675 {source="DOID:1456", source="MONDO:equivalentTo"} is_a: EFO:0000524 ! head and neck disorder is_a: EFO:0009903 {source="MONDO:Redundant"} ! inflammatory disease is_a: MONDO:0001165 {source="DOID:1456", source="MESH:D005928", source="MONDO:Redundant"} ! tongue disorder property_value: closeMatch http://identifiers.org/meddra/10018386 property_value: exactMatch DOID:1456 property_value: exactMatch http://identifiers.org/mesh/D005928 property_value: exactMatch http://identifiers.org/snomedct/45534005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017675 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K14.0 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000952 name: glycogen storage disease VIII def: "An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon." [] synonym: "Glycogen Storage Disease Type VIII" EXACT [] synonym: "glycogen storage disease type VIII" EXACT [] synonym: "Glycogen storage disease type VIII (disorder)" EXACT [] synonym: "glycogenosis type VIII" EXACT [] synonym: "hepatic glycogen phosphorylase kinase deficiency (disorder)" EXACT [] xref: DOID:2751 xref: MedDRA:10053242 xref: MeSH:D006015 xref: SNOMEDCT:235908005 is_a: Orphanet:79161 ! Disorder of carbohydrate metabolism property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000953 name: gonadal tissue neoplasm def: "Neoplasms composed of tissues of the ovary or the testis, not neoplasms located in the ovaries or testes. Gonadal tissues include germ cells, cells from the sex cord, and gonadal stromal cells." [MESH:D018309] synonym: "gonadal tissue neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "gonadal tissue neoplasm" EXACT [] {comment="preferred label from MONDO"} xref: EFO:1000953 {source="MONDO:equivalentTo"} xref: MESH:D018309 {source="MONDO:equivalentTo", source="EFO:1000953"} xref: MONDO:0006773 xref: UMLS:C0206722 {source="MONDO:equivalentTo"} is_a: EFO:1000051 {source="EFO:1000953"} ! reproductive system neoplasm property_value: closeMatch DOID:194 property_value: closeMatch http://identifiers.org/snomedct/115221000 property_value: exactMatch http://identifiers.org/mesh/D018309 property_value: exactMatch http://identifiers.org/mesh/D018309 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206722 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206722 [Term] id: EFO:1000954 name: habitual abortion def: "Three or more consecutive spontaneous abortions." [MESH:D000026] synonym: "Aborter - recurrent" EXACT [] synonym: "Abortion, Habitual" EXACT [] synonym: "chronic spontaneous abortion" EXACT [] synonym: "Habitual aborter" EXACT [] synonym: "Habitual aborter - unspecified (disorder)" EXACT [] synonym: "Habitual aborter NOS (disorder)" EXACT [] synonym: "habitual spontaneous abortion" EXACT [] {comment="preferred label from MONDO"} synonym: "recurrent abortion (disorder)" EXACT [] synonym: "recurrent miscarriage" EXACT [] xref: DOID:11946 xref: ICD10:N96 xref: MedDRA:10062935 {source="EFO:1000954"} xref: MESH:D000026 {source="MONDO:equivalentTo", source="EFO:1000954"} xref: MeSH:D000026 xref: MONDO:0006774 xref: OMIM:270960 xref: OMIM:614389 xref: OMIM:614390 xref: OMIM:614391 xref: SCTID:102878001 {source="MONDO:equivalentTo", source="EFO:1000954"} xref: SNOMEDCT:102878001 is_a: EFO:0000512 {source="EFO:1000954", source="EFO:1000954/inferred"} ! reproductive system disease is_a: EFO:1001491 ! abortion property_value: closeMatch http://identifiers.org/meddra/10062935 property_value: exactMatch http://identifiers.org/mesh/D000026 property_value: exactMatch http://identifiers.org/snomedct/102878001 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1000955 name: Haemophilus influenzae meningitis def: "Infections of the nervous system caused by bacteria of the genus HAEMOPHILUS, and marked by prominent inflammation of the MENINGES. HAEMOPHILUS INFLUENZAE TYPE B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults." [] def: "Infections of the nervous system caused by bacteria of the genus haemophilus, and marked by prominent inflammation of the meninges. haemophilus influenzae type B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults." [MESH:D008583] synonym: "Haemophilus influenzae bacterial meningitis" EXACT [EFO:1000955] synonym: "Haemophilus influenzae caused bacterial meningitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "haemophilus meningitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Haemophilus meningitis (disorder)" EXACT [] synonym: "Hemophilus meningitis" EXACT [] synonym: "Meningitis, Haemophilus" EXACT [] xref: DOID:0080179 {source="MONDO:equivalentTo"} xref: DOID:10803 xref: ICD9:320.0 {source="MONDO:equivalentTo", source="DOID:0080179", source="MONDO:i2s"} xref: MedDRA:10018953 {source="EFO:1000955"} xref: MESH:D008583 {source="MONDO:equivalentTo", source="DOID:0080179", source="EFO:1000955"} xref: MeSH:D008583 xref: MONDO:0000889 xref: SCTID:192643004 {source="MONDO:equivalentTo"} xref: SCTID:5900006 {source="MONDO:equivalentTo"} xref: SNOMEDCT:5900006 is_a: EFO:1000831 {source="DOID:0080179", source="MESH:D008583", source="MONDO:Redundant"} ! bacterial meningitis is_a: EFO:1001127 ! primary Haemophilus infectious disease property_value: closeMatch http://identifiers.org/meddra/10018953 property_value: exactMatch DOID:0080179 property_value: exactMatch http://identifiers.org/mesh/D008583 property_value: exactMatch http://identifiers.org/snomedct/192643004 property_value: exactMatch http://identifiers.org/snomedct/5900006 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000956 name: hairy cell leukemia def: "Hairy cell leukemia (HCL) is a rare type of leukemia in which abnormal B-lymphocytes are present in the bone marrow, spleen and peripheral blood. It is a slowly progressive chronic lymphocytic leukemia (CLL). The name comes from the abnormally shaped lymphocytes with hair-like projections." [Orphanet:58017] subset: ordo_disease {source="Orphanet:58017"} synonym: "classic hairy cell leukaemia" RELATED OMO:0003005 [] synonym: "classic hairy cell leukemia" RELATED [Orphanet:58017] synonym: "hairy cell leukemia" EXACT [MONDO:0006776, NCIT:C7402] synonym: "hairy cell leukemia" EXACT [] {comment="preferred label from MONDO"} synonym: "hairy cell leukemia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "HCL" EXACT ABBREVIATION [NCIT:C7402, ONCOTREE:HCL, Orphanet:58017] synonym: "HCL-C" EXACT [Orphanet:58017] synonym: "leukemic reticuloendotheliosis" EXACT [NCIT:C7402, Orphanet:58017] xref: DOID:285 {source="MONDO:equivalentTo", source="EFO:1000956"} xref: EFO:1000956 {source="MONDO:equivalentTo"} xref: GARD:0006560 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10:C91.4 {source="DOID:285", source="ORDO:58017/ntbt", source="Orphanet:58017", source="EFO:1000956"} xref: ICD10:C91.40 {source="DOID:285"} xref: ICD9:202.4 {source="DOID:285"} xref: ICDO:9940/3 {source="NCIT:C7402"} xref: MedDRA:10019053 {source="ORDO:58017/e", source="Orphanet:58017"} xref: MedDRA:10019053 {source="Orphanet:58017/e", source="Orphanet:58017"} xref: MedDRA:10019055 {source="EFO:1000956"} xref: MESH:D007943 {source="Orphanet:58017/e", source="MONDO:equivalentTo", source="DOID:285", source="Orphanet:58017", source="EFO:1000956"} xref: MESH:D007943 {source="MONDO:equivalentTo", source="DOID:285", source="ORDO:58017/e", source="Orphanet:58017", source="EFO:1000956"} xref: MONDO:0018935 xref: NCIT:C7402 {source="MONDO:equivalentTo", source="DOID:285", source="EFO:1000956"} xref: ONCOTREE:HCL {source="MONDO:equivalentTo"} xref: Orphanet:58017 {source="MONDO:equivalentTo"} xref: SCTID:118613001 {source="MONDO:equivalentTo", source="DOID:285"} xref: UMLS:C0023443 {source="Orphanet:58017/e", source="MONDO:equivalentTo", source="NCIT:C7402", source="DOID:285", source="Orphanet:58017"} xref: UMLS:C0023443 {source="MONDO:equivalentTo", source="NCIT:C7402", source="DOID:285", source="ORDO:58017/e", source="Orphanet:58017"} is_a: EFO:0000095 {source="DOID:285", source="EFO:1000956"} ! chronic lymphocytic leukemia property_value: closeMatch http://identifiers.org/meddra/10019053 property_value: closeMatch http://identifiers.org/meddra/10019055 property_value: closeMatch http://identifiers.org/meddra/10019055 property_value: closeMatch http://identifiers.org/snomedct/188644003 property_value: closeMatch http://identifiers.org/snomedct/188653005 property_value: closeMatch http://identifiers.org/snomedct/190066005 property_value: closeMatch http://identifiers.org/snomedct/54087003 property_value: closeMatch http://identifiers.org/snomedct/85228003 property_value: exactMatch DOID:285 property_value: exactMatch DOID:285 property_value: exactMatch http://identifiers.org/meddra/10019053 property_value: exactMatch http://identifiers.org/mesh/D007943 property_value: exactMatch http://identifiers.org/mesh/D007943 property_value: exactMatch http://identifiers.org/snomedct/118613001 property_value: exactMatch http://identifiers.org/snomedct/118613001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023443 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023443 property_value: exactMatch NCIT:C7402 property_value: exactMatch NCIT:C7402 property_value: exactMatch Orphanet:58017 [Term] id: EFO:1000957 name: hairy tongue def: "A benign condition affecting the dorsum of the tongue. It is characterized by defective desquamation resulting in elongation of the filiform papillae. The dorsum of the tongue has a furry appearance and is usually stained black." [NCIT:P378] def: "A benign condition of the tongue characterized by hypertrophy of the filiform papillae that give the dorsum of the tongue a furry appearance. The color of the elongated papillae varies from yellowish white to brown or black, depending upon staining by substances such as tobacco, food, or drugs. (Dorland, 27th ed)" [] synonym: "Black hair tongue" EXACT [] synonym: "Hairy Tongue" EXACT [] synonym: "hairy tongue" EXACT [DOID:13500, MESH:D014064, NCIT:C35075] synonym: "hairy tongue" EXACT [] {comment="preferred label from MONDO"} synonym: "hairy Tongues" RELATED [MESH:D014064] synonym: "overgrowth of filiform papillae" EXACT [DOID:13500] synonym: "Overgrowth of filiform papillae (disorder)" EXACT [] synonym: "Tongue, Hairy" EXACT [] synonym: "Tongues, hairy" RELATED [MESH:D014064] xref: DOID:13500 {source="MONDO:equivalentTo", source="EFO:1000957"} xref: ICD9:529.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10043960 {source="EFO:1000957"} xref: MedDRA:10080277 xref: MESH:D014064 {source="MONDO:equivalentTo", source="EFO:1000957", source="DOID:13500"} xref: MeSH:D014064 xref: MONDO:0006777 xref: NCIT:C35075 {source="MONDO:equivalentTo", source="EFO:1000957", source="DOID:13500"} xref: NCIt:C35075 xref: SCTID:255225007 {source="MONDO:equivalentTo", source="DOID:13500"} xref: SNOMEDCT:81934005 xref: UMLS:C0040414 {source="NCIT:C35075", source="MONDO:equivalentTo", source="DOID:13500"} is_a: MONDO:0001165 {source="DOID:13500", source="MESH:D014064"} ! tongue disorder property_value: closeMatch http://identifiers.org/meddra/10043960 property_value: exactMatch DOID:13500 property_value: exactMatch http://identifiers.org/mesh/D014064 property_value: exactMatch http://identifiers.org/snomedct/255225007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040414 property_value: exactMatch NCIT:C35075 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1000958 name: halo nevus def: "A benign melanocytic nevus with a halo appearance." [NCIT:C7602] subset: gard_rare {source="GARD:0009421"} synonym: "halo nevi" EXACT [MONDO:0009322, OMIM:234300] synonym: "halo nevus" EXACT [] {comment="preferred label from MONDO"} synonym: "halo nevus" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "leukoderma acquisitum Centrifugum of Sutton" RELATED [OMIM:234300] xref: EFO:1000958 {source="MONDO:equivalentTo"} xref: GARD:0009421 {source="MONDO:equivalentTo"} xref: ICD9:709.09 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:709.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8723/0 {source="NCIT:C7602"} xref: MedDRA:10062794 {source="EFO:1000958"} xref: MESH:D055882 {source="EFO:1000958", source="MONDO:equivalentTo"} xref: MONDO:0006778 xref: NCIT:C7602 {source="EFO:1000958", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C7602 {source="EFO:1000958", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:398028009 {source="MONDO:equivalentTo"} xref: UMLS:C0474824 {source="MONDO:equivalentTo", source="OMIM:234300", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C7602"} xref: UMLS:C0474824 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:234300", source="NCIT:C7602"} is_a: EFO:0009675 {source="EFO:1000958", source="MESH:D055882", source="NCIT:C7602/inferred"} ! melanocytic nevus property_value: closeMatch DOID:2423 property_value: closeMatch http://identifiers.org/meddra/10062794 property_value: closeMatch http://identifiers.org/meddra/10062794 property_value: closeMatch http://identifiers.org/snomedct/78325005 property_value: exactMatch http://identifiers.org/mesh/D055882 property_value: exactMatch http://identifiers.org/mesh/D055882 property_value: exactMatch http://identifiers.org/snomedct/398028009 property_value: exactMatch http://identifiers.org/snomedct/398028009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0474824 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0474824 property_value: exactMatch NCIT:C7602 property_value: exactMatch NCIT:C7602 property_value: excluded_subClassOf MONDO:0003847 {source="MONDO:0009322", source="OMIM:234300"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9421/halo-nevi xsd:anyURI {source="GARD:0009421"} [Term] id: EFO:1000959 name: heart aneurysm def: "A localized bulging or dilatation in the muscle wall of a heart (MYOCARDIUM), usually in the LEFT VENTRICLE. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are HEMATOMA caused by myocardial rupture." [] def: "A localized bulging or dilatation in the muscle wall of a heart (myocardium), usually in the left ventricle. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are hematoma caused by myocardial rupture." [MESH:D006322] synonym: "cardiac aneurysm" EXACT [DOID:9768] synonym: "Heart Aneurysm" EXACT [] synonym: "heart aneurysm" EXACT [] {comment="preferred label from MONDO"} xref: DOID:9768 {source="EFO:1000959", source="MONDO:equivalentTo"} xref: ICD10:I25.3 xref: ICD10CM:I25.3 {source="EFO:1000959", source="DOID:9768", source="MONDO:equivalentTo"} xref: ICD9:414.10 {source="EFO:1000959", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:414.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10002350 {source="EFO:1000959"} xref: MESH:D006322 {source="EFO:1000959", source="DOID:9768", source="MONDO:equivalentTo"} xref: MeSH:D006322 xref: MONDO:0006779 xref: SCTID:65340007 {source="DOID:9768", source="MONDO:equivalentTo"} xref: UMLS:C0018789 {source="DOID:9768", source="MONDO:equivalentTo"} is_a: EFO:0003777 {source="DOID:9768", source="EFO:1000959", source="MESH:D006322"} ! heart disease property_value: closeMatch http://identifiers.org/meddra/10002350 property_value: exactMatch DOID:9768 property_value: exactMatch http://identifiers.org/mesh/D006322 property_value: exactMatch http://identifiers.org/snomedct/65340007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018789 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/I25.3 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000960 name: heartwater disease def: "A tick-borne septicemic disease of domestic and wild ruminants caused by EHRLICHIA RUMINANTIUM." [] synonym: "Heartwater (disorder)" EXACT [] synonym: "Heartwater Disease" EXACT [] xref: DOID:14090 xref: MeSH:D006357 is_a: EFO:0000771 ! bacterial disease property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1000961 name: Helicobacter pylori infectious disease def: "Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease." [MESH:D016481] synonym: "H. pylori infection" EXACT [] synonym: "Helicobacter infection" RELATED [MESH:D016481] synonym: "Helicobacter Infections" EXACT [] synonym: "Helicobacter pylori caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Helicobacter pylori disease or disorder" EXACT [] synonym: "Helicobacter Pylori Infection" EXACT [] synonym: "Helicobacter pylori infection, susceptibility to" RELATED [MESH:D016481] synonym: "Helicobacter pylori infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "infection, Helicobacter" RELATED [MESH:D016481] synonym: "infections, Helicobacter" RELATED [MESH:D016481] xref: DOID:3686 xref: MESH:D016481 {source="MONDO:equivalentTo", source="EFO:1000961"} xref: MeSH:D016481 xref: MONDO:0006781 is_a: MONDO:0021678 {source="MESH:D016481"} ! gram-negative bacterial infections property_value: exactMatch http://identifiers.org/mesh/D016481 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000962 name: hemometra def: "Blood-filled UTERUS." [] def: "Blood-filled uterus." [MESH:D006409] synonym: "Hematometra" EXACT [] synonym: "hematometra" EXACT [DOID:9958, ICD9CM:621.4] synonym: "hemometra" EXACT [] {comment="preferred label from MONDO"} xref: DOID:9958 {source="MONDO:equivalentTo", source="EFO:1000962"} xref: ICD10CM:N85.7 {source="MONDO:equivalentTo", source="DOID:9958"} xref: ICD9:621.4 {source="MONDO:equivalentTo", source="DOID:9958", source="MONDO:i2s"} xref: MESH:D006409 {source="MONDO:equivalentTo", source="DOID:9958", source="EFO:1000962"} xref: MeSH:D006409 xref: MONDO:0006782 xref: SCTID:38280009 {source="MONDO:equivalentTo", source="DOID:9958", source="EFO:1000962"} xref: SNOMEDCT:38280009 is_a: MONDO:0002654 {source="DOID:9958", source="MESH:D006409"} ! uterine disorder property_value: exactMatch DOID:9958 property_value: exactMatch http://identifiers.org/mesh/D006409 property_value: exactMatch http://identifiers.org/snomedct/38280009 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/N85.7 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000963 name: hemopneumothorax def: "Collection of air and blood in the pleural cavity." [MESH:D006468] synonym: "Hemopneumothorax" EXACT [] synonym: "hemopneumothorax" EXACT [] {comment="preferred label from MONDO"} synonym: "Hemopneumothorax (disorder)" EXACT [] xref: DOID:2718 {source="MONDO:equivalentTo", source="EFO:1000963"} xref: ICD9:511.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10060632 {source="EFO:1000963"} xref: MESH:D006468 {source="MONDO:equivalentTo", source="EFO:1000963", source="DOID:2718"} xref: MeSH:D006468 xref: MONDO:0006783 xref: SCTID:16632002 {source="MONDO:equivalentTo", source="EFO:1000963", source="DOID:2718"} xref: SNOMEDCT:16632002 xref: UMLS:C0019077 {source="MONDO:equivalentTo", source="DOID:2718"} is_a: MONDO:0002076 {source="DOID:2718"} ! pneumothorax property_value: closeMatch http://identifiers.org/meddra/10060632 property_value: exactMatch DOID:2718 property_value: exactMatch http://identifiers.org/mesh/D006468 property_value: exactMatch http://identifiers.org/snomedct/16632002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019077 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000964 name: hemorrhagic disease of newborn def: "A condition characterized as a coagulation disturbance in newborns due to vitamin K deficiency resulting in impaired production of coagulation factors II, VII, IX, and X, and proteins C and S by the liver." [NCIT:C111857] def: "Hemorrhage caused by vitamin K deficiency." [] synonym: "Hemorrhagic diathesis of newborn" EXACT [] synonym: "Hemorrhagic disease of newborn" EXACT [] synonym: "hemorrhagic disease of newborn" EXACT [] {comment="preferred label from MONDO"} synonym: "hemorrhagic disease of newborn" EXACT [NCIT:C111857] synonym: "Hemorrhagic disease of the newborn due to vitamin K deficiency (disorder)" EXACT [] synonym: "Vitamin K Deficiency Bleeding" EXACT [] synonym: "vitamin K deficiency bleeding in newborn" EXACT [NCIT:C111857] xref: DOID:11248 xref: ICD10:P53 xref: ICD10CM:P53 {source="MONDO:equivalentTo", source="EFO:1000964"} xref: ICD9:776.0 {source="MONDO:relatedTo", source="MONDO:i2s", source="EFO:1000964"} xref: MedDRA:10019601 {source="EFO:1000964"} xref: MESH:D006475 {source="MONDO:equivalentTo", source="EFO:1000964"} xref: MeSH:D006475 xref: MONDO:0006784 xref: NCIT:C111857 {source="MONDO:equivalentTo", source="EFO:1000964"} xref: NCIt:C111857 xref: SCTID:12546009 {source="MONDO:equivalentTo"} is_a: EFO:0001069 {source="EFO:1000964", source="MESH:D006475/inferred"} ! nutritional disorder is_a: EFO:0009314 ! blood coagulation disease is_a: EFO:0010238 ! perinatal disease property_value: closeMatch http://identifiers.org/meddra/10019601 property_value: exactMatch http://identifiers.org/mesh/D006475 property_value: exactMatch http://identifiers.org/snomedct/12546009 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/P53 property_value: exactMatch NCIT:C111857 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000965 name: Henoch-Schoenlein purpura def: "A systemic non-thrombocytopenic purpura caused by HYPERSENSITIVITY VASCULITIS and deposition of IGA-containing IMMUNE COMPLEXES within the blood vessels throughout the body, including those in the kidney (KIDNEY GLOMERULUS). Clinical symptoms include URTICARIA; ERYTHEMA; ARTHRITIS; GASTROINTESTINAL HEMORRHAGE; and renal involvement. Most cases are seen in children after acute upper respiratory infections." [] synonym: "Allergic purpura" EXACT [] synonym: "Allergic purpura (disorder)" EXACT [] synonym: "Allergic purpura NOS (disorder)" EXACT [] synonym: "Autoimmune purpura (disorder) [Ambiguous]" EXACT [] synonym: "Henoch-Scholein purpura" EXACT [] synonym: "Henoch-Schonlein Purpura" EXACT [] synonym: "Henoch-Schonlein purpura" EXACT [] synonym: "Henoch-Schonlein purpura (disorder)" EXACT [] synonym: "Henoch-Schönlein purpura" EXACT [] synonym: "IgA vasculitis" EXACT [] synonym: "Purpura, autoimmune" EXACT [] synonym: "Purpura, Schoenlein-Henoch" EXACT [] synonym: "Purpura: [allergic] or [Henoch-Schonlein allergy]" EXACT [] xref: DOID:11123 xref: MeSH:D011695 is_a: EFO:1002003 ! hypersensitivity reaction disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000966 name: hepatic vein thrombosis def: "A condition in which the hepatic venous outflow is obstructed anywhere from the small HEPATIC VEINS to the junction of the INFERIOR VENA CAVA and the RIGHT ATRIUM. Usually the blockage is extrahepatic and caused by blood clots (THROMBUS) or fibrous webs. Parenchymal FIBROSIS is uncommon." [] def: "A condition in which the hepatic venous outflow is obstructed anywhere from the small hepatic veins to the junction of the inferior vena cava and the right atrium. Usually the blockage is extrahepatic and caused by blood clots (thrombus) or fibrous webs. Parenchymal fibrosis is uncommon." [MESH:D006502] synonym: "Budd-Chiari Syndrome" EXACT [] synonym: "Budd-Chiari syndrome" EXACT [] synonym: "Budd-Chiari syndrome" RELATED [DOID:11512] synonym: "hepatic vein thrombosis" EXACT [] {comment="preferred label from MONDO"} synonym: "hepatic vein thrombosis" EXACT [DOID:11512] xref: DOID:11512 {source="MONDO:equivalentTo", source="EFO:1000966"} xref: ICD10CM:I82.0 {source="DOID:11512", source="MONDO:relatedTo"} xref: ICD9:453.0 {source="MONDO:relatedTo", source="EFO:1000966"} xref: MedDRA:10006537 {source="EFO:1000966"} xref: MedDRA:10019713 {source="EFO:1000966"} xref: MESH:D006502 {source="DOID:11512", source="MONDO:relatedTo", source="EFO:1000966"} xref: MeSH:D006502 xref: MONDO:0006786 xref: SCTID:38739001 {source="DOID:11512", source="MONDO:equivalentTo", source="EFO:1000966"} xref: SCTID:82385007 {source="MONDO:relatedTo", source="EFO:1000966"} xref: SNOMEDCT:38739001 xref: SNOMEDCT:82385007 is_a: MONDO:0002405 {source="DOID:11512"} ! hepatic vascular disorder property_value: closeMatch http://identifiers.org/meddra/10006537 property_value: closeMatch http://identifiers.org/meddra/10019713 property_value: exactMatch DOID:11512 property_value: exactMatch http://identifiers.org/snomedct/38739001 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000967 name: hidrocystoma def: "A benign cystic proliferation of the sweat glands with apocrine or eccrine differentiation. It usually presents as a dome-shaped, cystic papular or nodular lesion usually in the face and neck. It is a unilocular or mutlilocular lesion lined by an inner and an outer layer of epithelium. Complete excision is usually curative." [NCIT:C3760] synonym: "apocrine cystadenoma" NARROW [DOID:3893] synonym: "apocrine/eccrine hidrocystoma" EXACT [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl2/] synonym: "cystadenoma" EXACT [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl2/] synonym: "cystadenoma" RELATED [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl2/] synonym: "eccrine cystadenoma" NARROW [DOID:3893] synonym: "eccrine hidrocystoma of skin" EXACT [DOID:3893] synonym: "hidrocystoma" EXACT [NCIT:C3760] synonym: "hidrocystoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "hidrocystoma" EXACT [] {comment="preferred label from MONDO"} synonym: "hidrocystoma (morphologic abnormality)" EXACT [DOID:3893] synonym: "Hydrocystoma" EXACT [NCIT:C3760] xref: DOID:3893 {source="MONDO:equivalentTo", source="EFO:1000967"} xref: EFO:1000967 {source="MONDO:equivalentTo"} xref: ICD9:709.8 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:709.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8404/0 {source="NCIT:C3760"} xref: MedDRA:10059019 {source="EFO:1000967"} xref: MESH:D018251 {source="DOID:3893", source="MONDO:equivalentTo", source="EFO:1000967"} xref: MONDO:0006787 xref: NCIT:C3760 {source="DOID:3893", source="MONDO:equivalentTo", source="EFO:1000967"} xref: SCTID:254725004 {source="MONDO:equivalentTo"} xref: UMLS:C0206672 {source="DOID:3893", source="MONDO:equivalentTo", source="NCIT:C3760"} is_a: MONDO:0021489 {source="NCIT:C3760", source="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl1/"} ! benign neoplasm of sweat gland property_value: closeMatch http://identifiers.org/meddra/10059019 property_value: closeMatch http://identifiers.org/meddra/10059019 property_value: closeMatch http://identifiers.org/snomedct/80549000 property_value: exactMatch DOID:3893 property_value: exactMatch DOID:3893 property_value: exactMatch http://identifiers.org/mesh/D018251 property_value: exactMatch http://identifiers.org/mesh/D018251 property_value: exactMatch http://identifiers.org/snomedct/254725004 property_value: exactMatch http://identifiers.org/snomedct/254725004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206672 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206672 property_value: exactMatch NCIT:C3760 property_value: exactMatch NCIT:C3760 property_value: excluded_subClassOf MONDO:0003686 {source="DOID:3893"} [Term] id: EFO:1000968 name: hydrophthalmos def: "Abnormal enlargement of the eye" [NCIT:P378] def: "Congenital open-angle glaucoma that results from dysgenesis of the angle structures accompanied by increased intraocular pressure and enlargement of the eye. Treatment is both medical and surgical." [] synonym: "Hydrophthalmos" EXACT [] synonym: "hydrophthalmos" EXACT [] {comment="preferred label from MONDO"} xref: DOID:11212 {source="MONDO:equivalentTo", source="EFO:1000968"} xref: ICD9:743.2 {source="DOID:11212"} xref: ICD9:743.20 {source="DOID:11212"} xref: MESH:D006871 {source="MONDO:equivalentTo", source="EFO:1000968", source="DOID:11212"} xref: MeSH:D006871 xref: MONDO:0006788 is_a: MONDO:0000365 {source="DOID:11212"} ! primary congenital glaucoma is_a: Orphanet:156005 ! Primary glaucoma property_value: exactMatch DOID:11212 property_value: exactMatch http://identifiers.org/mesh/D006871 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000969 name: hyperamylasemia def: "A condition with abnormally elevated level of AMYLASES in the serum. Hyperamylasemia due to PANCREATITIS or other causes may be differentiated by identifying the amylase isoenzymes." [] def: "Abnormally high level of amylase in the blood." [NCIT:P378] synonym: "Hyperamylasemia" EXACT [] synonym: "hyperamylasemia" EXACT [] {comment="preferred label from MONDO"} xref: DOID:14215 xref: MedDRA:10062777 {source="EFO:1000969"} xref: MESH:D034321 {source="EFO:1000969", source="MONDO:equivalentTo"} xref: MeSH:D034321 xref: MONDO:0006789 xref: NCIt:C113755 is_a: EFO:0000589 ! metabolic disease is_a: EFO:0005803 {source="EFO:1000969"} ! hematologic disease property_value: closeMatch http://identifiers.org/meddra/10062777 property_value: exactMatch http://identifiers.org/mesh/D034321 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000970 name: hypercementosis def: "A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed)" [MESH:D006936] subset: gard_rare {source="GARD:0006692"} synonym: "Cementation hyperplasia" EXACT [] synonym: "cementation hyperplasia" EXACT [DOID:12733] synonym: "Hypercementosis" EXACT [] synonym: "hypercementosis" EXACT [] {comment="preferred label from MONDO"} synonym: "hypercementosis (disorder)" EXACT [] xref: DOID:12733 {source="MONDO:equivalentTo", source="EFO:1000970"} xref: ICD10:K03.4 xref: ICD10CM:K03.4 {source="DOID:12733", source="MONDO:equivalentTo", source="EFO:1000970"} xref: ICD9:521.5 {source="DOID:12733", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10020596 {source="EFO:1000970"} xref: MESH:D006936 {source="DOID:12733", source="MONDO:equivalentTo", source="EFO:1000970"} xref: MeSH:D006936 xref: MONDO:0006790 xref: SCTID:78537008 {source="DOID:12733", source="MONDO:equivalentTo", source="EFO:1000970"} xref: SNOMEDCT:78537008 xref: UMLS:C0020441 {source="DOID:12733", source="MONDO:equivalentTo"} is_a: MONDO:0002220 {source="DOID:12733", source="ICD10CM:K03.4"} ! tooth hard tissue disease property_value: closeMatch http://identifiers.org/meddra/10020596 property_value: exactMatch DOID:12733 property_value: exactMatch http://identifiers.org/mesh/D006936 property_value: exactMatch http://identifiers.org/snomedct/78537008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020441 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K03.4 property_value: IAO:0000117 "Dani Welter" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6692/hypercementosis xsd:anyURI {source="GARD:0006692"} [Term] id: EFO:1000971 name: hyperemesis gravidarum def: "Intractable VOMITING that develops in early PREGNANCY and persists. This can lead to DEHYDRATION and WEIGHT LOSS." [] def: "Severe, intractable vomiting during pregnancy (usually the first trimester) accompanied by dehydration, weight loss, and electrolyte imbalances." [NCIT:P378] synonym: "Hyperemesis Gravidarum" EXACT [] synonym: "hyperemesis gravidarum" EXACT [] {comment="preferred label from MONDO"} synonym: "hyperemesis gravidarum" EXACT [MONDO:ambiguous] synonym: "hyperemesis gravidarum (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "pernicious vomiting of pregnancy" RELATED [MESH:D006939] synonym: "pregnancy pernicious vomiting" RELATED [MESH:D006939] xref: DOID:9357 xref: HP:0012188 {source="MONDO:otherHierarchy"} xref: ICD10:O21 xref: MedDRA:10020614 {source="EFO:1000971"} xref: MESH:D006939 {source="EFO:1000971", source="MONDO:equivalentTo"} xref: MeSH:D006939 xref: MONDO:0006791 xref: NCIt:C87084 xref: SCTID:14094001 {source="EFO:1000971", source="MONDO:equivalentTo"} xref: SNOMEDCT:14094001 is_a: EFO:0009682 {source="https://github.com/monarch-initiative/mondo/issues/990"} ! pregnancy disorder property_value: closeMatch http://identifiers.org/meddra/10020614 property_value: exactMatch http://identifiers.org/mesh/D006939 property_value: exactMatch http://identifiers.org/snomedct/14094001 property_value: excluded_subClassOf MONDO:0005039 {source="EFO:1000971"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000589 "hyperemesis gravidarum (disease)" xsd:string [Term] id: EFO:1000972 name: hyperglobulinemic purpura def: "Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually GAMMA-GLOBULINS. This syndrome often occurs on the legs of women aged 20 to 40 years." [] def: "Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually gamma-globulins. This syndrome often occurs on the legs of women aged 20 to 40 years." [MESH:D011694] synonym: "hyperglobulinemic purpura" EXACT [] {comment="preferred label from MONDO"} synonym: "hyperglobulinemic purpura (disorder)" EXACT [] synonym: "Purpura, Hyperglobulinemic" EXACT [] xref: DOID:3325 {source="MONDO:equivalentTo", source="EFO:1000972"} xref: MESH:D011694 {source="MONDO:equivalentTo", source="DOID:3325", source="EFO:1000972"} xref: MeSH:D011694 xref: MONDO:0006792 xref: SCTID:402852007 {source="MONDO:equivalentTo", source="DOID:3325", source="EFO:1000972"} xref: SNOMEDCT:402852007 xref: UMLS:C0034151 {source="MONDO:equivalentTo", source="DOID:3325"} is_a: EFO:0000701 {source="EFO:1000972"} ! skin disease is_a: MONDO:0002610 {source="DOID:3325", source="MESH:D011694"} ! purpura property_value: exactMatch DOID:3325 property_value: exactMatch http://identifiers.org/mesh/D011694 property_value: exactMatch http://identifiers.org/snomedct/402852007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034151 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000973 name: hyperpituitarism def: "Disease of the glandular, anterior portion of the pituitary (PITUITARY GLAND, ANTERIOR) resulting in hypersecretion of ADENOHYPOPHYSEAL HORMONES such as GROWTH HORMONE; PROLACTIN; THYROTROPIN; LUTEINIZING HORMONE; FOLLICLE STIMULATING HORMONE ; and ADRENOCORTICOTROPIC HORMONE. Hyperpituitarism usually is caused by a functional ADENOMA." [] def: "Disease of the glandular, anterior portion of the pituitary (pituitary gland, anterior) resulting in hypersecretion of adenohypophyseal hormones such as growth hormone; prolactin; thyrotropin; luteinizing hormone; follicle stimulating hormone ; and adrenocorticotropic hormone. Hyperpituitarism usually is caused by a functional adenoma." [MESH:D006964] subset: clingen synonym: "Hyperpituitarism" EXACT [] synonym: "hyperpituitarism" EXACT [] {comment="preferred label from MONDO"} xref: DOID:2444 {source="MONDO:equivalentTo", source="EFO:1000973"} xref: ICD10:E22 xref: ICD9:253.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10020716 {source="EFO:1000973"} xref: MESH:D006964 {source="DOID:2444", source="MONDO:equivalentTo", source="EFO:1000973"} xref: MeSH:D006964 xref: MONDO:0006793 xref: SCTID:10649000 {source="DOID:2444", source="MONDO:equivalentTo", source="EFO:1000973"} xref: SNOMEDCT:10649000 xref: UMLS:C0020506 {source="DOID:2444", source="MONDO:equivalentTo"} is_a: MONDO:0024468 ! anterior pituitary gland disorder property_value: closeMatch http://identifiers.org/meddra/10020716 property_value: exactMatch DOID:2444 property_value: exactMatch http://identifiers.org/mesh/D006964 property_value: exactMatch http://identifiers.org/snomedct/10649000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020506 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000974 name: hypersensitivity vasculitis def: "A small vessel vasculitis affecting the skin and/or internal organs. It is characterized by the presence of neutrophils and fibrinoid necrosis in small arteries and venules. It may be idiopathic or the result of drug treatment, infections, food intake, collagen vascular disorders, inflammatory bowel disease, or cancer." [NCIT:C82863] def: "Disorder characterized by a vasculitic syndrome associated with exposure to an antigen such as a drug, infectious agent, or other foreign or endogenous substance. Its pathophysiology includes immune complex deposition and a wide range of skin lesions. Hypersensitivity or allergy is present in some but not all cases." [] synonym: "hypersensitivity vasculitis" EXACT [] {comment="preferred label from MONDO"} synonym: "leukocytoclastic vasculitis" EXACT [NCIT:C82863] synonym: "Vasculitis, Leukocytoclastic, Cutaneous" EXACT [] xref: DOID:9809 {source="MONDO:equivalentTo", source="EFO:1000974"} xref: ICD9:446.2 {source="DOID:9809"} xref: ICD9:446.20 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9809"} xref: ICD9:446.29 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10020764 {source="EFO:1000974"} xref: MeSH:D018366 xref: MONDO:0006794 xref: NCIT:C82863 {source="MONDO:equivalentTo"} xref: SCTID:60555002 {source="MONDO:equivalentTo", source="DOID:9809"} is_a: EFO:0006803 {source="MONDO:Redundant", source="NCIT:C82863"} ! vasculitis is_a: EFO:1002003 {source="DOID:9809/inferred", source="EFO:1000974"} ! hypersensitivity reaction disease property_value: closeMatch http://identifiers.org/meddra/10020764 property_value: exactMatch DOID:9809 property_value: exactMatch http://identifiers.org/snomedct/60555002 property_value: exactMatch NCIT:C82863 property_value: excluded_subClassOf MONDO:0007004 {source="DOID:9809"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000975 name: hypersplenism def: "Condition characterized by splenomegaly, some reduction in the number of circulating blood cells in the presence of a normal or hyperactive bone marrow, and the potential for reversal by splenectomy." [] def: "Overactive functioning of the spleen, resulting in excessive destruction of blood cells." [NCIT:P378] synonym: "hypersplenia" EXACT [DOID:6376] synonym: "Hypersplenism" EXACT [] synonym: "hypersplenism" EXACT [] {comment="preferred label from MONDO"} synonym: "hypersplenism" EXACT [MONDO:ambiguous] synonym: "hypersplenism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "hypersplenism (disorder)" EXACT [] xref: DOID:6376 {source="MONDO:equivalentTo", source="EFO:1000975"} xref: HP:0001971 {source="MONDO:otherHierarchy"} xref: ICD10CM:D73.1 {source="MONDO:equivalentTo", source="DOID:6376"} xref: ICD9:289.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:1000975", source="DOID:6376"} xref: MedDRA:10020769 {source="EFO:1000975"} xref: MESH:D006971 {source="MONDO:equivalentTo", source="EFO:1000975", source="DOID:6376"} xref: MeSH:D006971 xref: MONDO:0006795 xref: NCIT:C34714 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="EFO:1000975", source="DOID:6376"} xref: NCIt:C34714 xref: SCTID:58381000 {source="MONDO:equivalentTo", source="EFO:1000975", source="DOID:6376"} xref: SNOMEDCT:58381000 xref: UMLS:C0020532 {source="MONDO:equivalentTo", source="DOID:6376"} is_a: EFO:0009002 {source="DOID:6376", source="ICD10CM:D73.1", source="MESH:D006971"} ! splenic disease property_value: closeMatch http://identifiers.org/meddra/10020769 property_value: exactMatch DOID:6376 property_value: exactMatch http://identifiers.org/mesh/D006971 property_value: exactMatch http://identifiers.org/snomedct/58381000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020532 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D73.1 property_value: exactMatch NCIT:C34714 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000589 "hypersplenism (disease)" xsd:string [Term] id: EFO:1000976 name: hypertensive encephalopathy def: "Brain dysfunction or damage resulting from sustained MALIGNANT HYPERTENSION. When BLOOD PRESSURE exceeds the limits of cerebral autoregulation, cerebral blood flow is impaired (BRAIN ISCHEMIA). Clinical manifestations include HEADACHE; NAUSEA; VOMITING; SEIZURES; altered mental status (in some cases progressing to COMA); PAPILLEDEMA; and RETINAL HEMORRHAGE." [] def: "Encephalopathy resulting from hypertension." [NCIT:P378] synonym: "Hypertensive Encephalopathy" EXACT [] synonym: "hypertensive encephalopathy" EXACT [] {comment="preferred label from MONDO"} xref: DOID:9427 {source="MONDO:equivalentTo", source="EFO:1000976"} xref: ICD10:I67.4 xref: ICD10CM:I67.4 {source="DOID:9427", source="MONDO:equivalentTo", source="EFO:1000976"} xref: ICD9:437.2 {source="DOID:9427", source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:1000976"} xref: MedDRA:10020803 {source="EFO:1000976"} xref: MESH:D020343 {source="DOID:9427", source="MONDO:equivalentTo", source="EFO:1000976"} xref: MeSH:D020343 xref: MONDO:0006796 xref: NCIT:C3503 {source="DOID:9427", source="MONDO:equivalentTo", source="EFO:1000976"} xref: NCIt:C3503 xref: SCTID:50490005 {source="DOID:9427", source="MONDO:equivalentTo", source="EFO:1000976"} xref: SNOMEDCT:50490005 xref: UMLS:C0151620 {source="DOID:9427", source="MONDO:equivalentTo", source="NCIT:C3503"} is_a: EFO:0001423 ! encephalomyelitis is_a: EFO:1000992 {source="DOID:9427", source="MESH:D020343"} ! intracranial hypertension intersection_of: EFO:0005774 ! brain disease intersection_of: disease_arises_from_feature EFO:0000537 ! hypertension relationship: disease_arises_from_feature EFO:0000537 ! hypertension property_value: closeMatch http://identifiers.org/meddra/10020803 property_value: exactMatch DOID:9427 property_value: exactMatch http://identifiers.org/mesh/D020343 property_value: exactMatch http://identifiers.org/snomedct/50490005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151620 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/I67.4 property_value: exactMatch NCIT:C3503 property_value: excluded_subClassOf MONDO:0005156 {source="EFO:1000976"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000977 name: hypertensive retinopathy def: "Degenerative changes to the RETINA due to HYPERTENSION." [] def: "Retinopathy due to hypertension." [NCIT:P378] synonym: "Hypertensive Retinopathy" EXACT [] synonym: "hypertensive retinopathy" EXACT [] {comment="preferred label from MONDO"} xref: DOID:11561 {source="MONDO:equivalentTo", source="EFO:1000977"} xref: ICD9:362.11 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11561", source="EFO:1000977"} xref: MedDRA:10020839 {source="EFO:1000977"} xref: MESH:D058437 {source="MONDO:equivalentTo", source="DOID:11561", source="EFO:1000977"} xref: MeSH:D058437 xref: MONDO:0006797 xref: NCIT:C3514 {source="MONDO:equivalentTo", source="DOID:11561", source="EFO:1000977"} xref: NCIt:C3514 xref: SCTID:6962006 {source="MONDO:equivalentTo", source="DOID:11561", source="EFO:1000977"} xref: SNOMEDCT:6962006 xref: UMLS:C0152132 {source="MONDO:equivalentTo", source="DOID:11561", source="NCIT:C3514"} is_a: EFO:0003839 {source="DOID:11561", source="EFO:1000977", source="MESH:D058437", source="MONDO:Redundant", source="NCIT:C3514"} ! retinopathy property_value: closeMatch http://identifiers.org/meddra/10020839 property_value: exactMatch DOID:11561 property_value: exactMatch http://identifiers.org/mesh/D058437 property_value: exactMatch http://identifiers.org/snomedct/6962006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152132 property_value: exactMatch NCIT:C3514 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000978 name: hypervitaminosis A def: "A symptom complex resulting from ingesting excessive amounts of VITAMIN A." [] def: "A symptom complex resulting from ingesting excessive amounts of vitamin A." [MESH:D006986] synonym: "Hypervitaminosis A" EXACT [] synonym: "hypervitaminosis A" EXACT [] {comment="preferred label from MONDO"} synonym: "hypervitaminosis type A" EXACT [DOID:9972, EFO:1000978, MONDORULE:1] xref: DOID:9972 {source="MONDO:equivalentTo", source="EFO:1000978"} xref: ICD10:E67.0 xref: ICD10CM:E67.0 {source="MONDO:equivalentTo", source="DOID:9972", source="EFO:1000978"} xref: ICD9:278.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9972", source="EFO:1000978"} xref: MedDRA:10020916 {source="EFO:1000978"} xref: MESH:D006986 {source="MONDO:equivalentTo", source="DOID:9972", source="EFO:1000978"} xref: MeSH:D006986 xref: MONDO:0006798 xref: SCTID:64559002 {source="MONDO:equivalentTo", source="DOID:9972", source="EFO:1000978"} xref: SNOMEDCT:64559002 xref: UMLS:C0020579 {source="MONDO:equivalentTo", source="DOID:9972"} is_a: MONDO:0003916 {source="DOID:9972"} ! overnutrition property_value: closeMatch http://identifiers.org/meddra/10020916 property_value: exactMatch DOID:9972 property_value: exactMatch http://identifiers.org/mesh/D006986 property_value: exactMatch http://identifiers.org/snomedct/64559002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020579 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E67.0 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000979 name: hypothalamic neoplasm def: "A primary or metastatic neoplasm that affects the hypothalamus." [NCIT:P378] synonym: "hypothalamic neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "hypothalamic neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "hypothalamic neoplasms" EXACT [NCIT:C3129] synonym: "hypothalamic tumor" EXACT [NCIT:C3129] synonym: "hypothalamic tumour" EXACT OMO:0003005 [] synonym: "hypothalamus neoplasm" EXACT [] synonym: "hypothalamus tumor" EXACT [MONDO:patterns/neoplasm] synonym: "hypothalamus tumour" EXACT OMO:0003005 [] synonym: "neoplasm of hypothalamus" EXACT [MONDO:patterns/neoplasm, NCIT:C3129] synonym: "neoplasm of the hypothalamus" EXACT [DOID:3644, NCIT:C3129] synonym: "tumor of hypothalamus" EXACT [MONDO:patterns/neoplasm, NCIT:C3129] synonym: "tumor of the hypothalamus" EXACT [NCIT:C3129] synonym: "tumour of hypothalamus" EXACT OMO:0003005 [] synonym: "tumour of the hypothalamus" EXACT OMO:0003005 [] xref: DOID:3644 {source="MONDO:equivalentTo", source="EFO:1000979"} xref: EFO:1000979 {source="MONDO:equivalentTo"} xref: MESH:D007029 {source="MONDO:equivalentTo", source="DOID:3644", source="EFO:1000979"} xref: MONDO:0006799 xref: NCIT:C3129 {source="MONDO:equivalentTo", source="DOID:3644", source="EFO:1000979"} xref: SCTID:254968009 {source="MONDO:equivalentTo", source="DOID:3644"} xref: UMLS:C0020659 {source="MONDO:equivalentTo", source="DOID:3644", source="NCIT:C3129"} is_a: EFO:0003833 ! brain neoplasm is_a: MONDO:0002150 {source="MESH:D007029", source="MONDO:Redundant"} ! hypothalamic disorder property_value: exactMatch DOID:3644 property_value: exactMatch DOID:3644 property_value: exactMatch http://identifiers.org/mesh/D007029 property_value: exactMatch http://identifiers.org/mesh/D007029 property_value: exactMatch http://identifiers.org/snomedct/254968009 property_value: exactMatch http://identifiers.org/snomedct/254968009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020659 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020659 property_value: exactMatch NCIT:C3129 property_value: exactMatch NCIT:C3129 property_value: excluded_subClassOf MONDO:0003766 {source="DOID:3644"} property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/neoplasm.yaml [Term] id: EFO:1000980 name: ideomotor apraxia def: "A form of apraxia characterized by an acquired inability to carry out a complex motor activity despite the ability to mentally formulate the action. This condition has been attributed to a disruption of connections between the dominant parietal cortex and supplementary and premotor cortical regions in both hemispheres. (From Adams et al., Principles of Neurology, 6th ed, p57)" [MESH:D020240] synonym: "Apraxia, Ideomotor" EXACT [] synonym: "classic apraxia" EXACT [DOID:4627] synonym: "Classic apraxia (finding) [Ambiguous]" EXACT [] synonym: "classic apraxia (finding) [ambiguous]" EXACT [DOID:4627] synonym: "ideomotor apraxia" EXACT [] {comment="preferred label from MONDO"} synonym: "ideomotor dyspraxia" EXACT [DOID:4627] synonym: "Ideomotor dyspraxia (disorder)" EXACT [] synonym: "limb-kinetic apraxia" EXACT [DOID:4627] synonym: "Limb-kinetic apraxia (finding)" EXACT [] synonym: "limb-kinetic apraxia (finding)" EXACT [DOID:4627] synonym: "transcortical apraxia" EXACT [DOID:4627] synonym: "Transcortical apraxia (finding)" EXACT [] synonym: "transcortical apraxia (finding)" EXACT [DOID:4627] xref: DOID:4627 {source="EFO:1000980", source="MONDO:equivalentTo"} xref: ICD9:315.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10021216 {source="EFO:1000980"} xref: MESH:D020240 {source="EFO:1000980", source="MONDO:equivalentTo", source="DOID:4627"} xref: MeSH:D020240 xref: MONDO:0006800 xref: SCTID:229706001 {source="MONDO:equivalentTo", source="DOID:4627"} is_a: MONDO:0000665 {source="DOID:4627", source="MESH:D020240"} ! apraxia property_value: closeMatch http://identifiers.org/meddra/10021216 property_value: exactMatch DOID:4627 property_value: exactMatch http://identifiers.org/mesh/D020240 property_value: exactMatch http://identifiers.org/snomedct/229706001 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000981 name: ileal neoplasm alt_id: MONDO:0021376 def: "A benign or malignant neoplasm that affects the wall of the ileum. Representative examples include adenoma, carcinoma, and lymphoma." [NCIT:P378] synonym: "ileal neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "ileal neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "ileal tumor" EXACT [DOID:10156, NCIT:C3130] synonym: "ileal tumour" EXACT OMO:0003005 [] synonym: "ileum neoplasm" EXACT [] synonym: "ileum neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "ileum tumor" EXACT [MONDO:patterns/neoplasm] synonym: "ileum tumour" EXACT OMO:0003005 [] synonym: "neoplasm of ileum" EXACT [MONDO:patterns/neoplasm, NCIT:C3130] synonym: "neoplasm of the ileum" EXACT [NCIT:C3130] synonym: "tumor of ileum" EXACT [MONDO:patterns/neoplasm, NCIT:C3130] synonym: "tumor of the ileum" EXACT [NCIT:C3130] synonym: "tumour of ileum" EXACT OMO:0003005 [] synonym: "tumour of the ileum" EXACT OMO:0003005 [] xref: DOID:10156 {source="MONDO:equivalentTo", source="EFO:1000981"} xref: EFO:1000981 {source="MONDO:equivalentTo"} xref: MESH:D007078 {source="MONDO:equivalentTo", source="EFO:1000981", source="DOID:10156"} xref: MONDO:0006801 xref: NCIT:C3130 {source="MONDO:equivalentTo", source="EFO:1000981", source="DOID:10156"} xref: SCTID:126835002 {source="MONDO:equivalentTo", source="DOID:10156"} xref: UMLS:C0020876 {source="NCIT:C3130", source="MONDO:equivalentTo", source="DOID:10156"} is_a: MONDO:0004251 {source="DOID:10156", source="MONDO:Redundant", source="NCIT:C3130"} ! small intestine neoplasm property_value: closeMatch http://identifiers.org/snomedct/254576003 property_value: exactMatch DOID:10156 property_value: exactMatch DOID:10156 property_value: exactMatch http://identifiers.org/mesh/D007078 property_value: exactMatch http://identifiers.org/mesh/D007078 property_value: exactMatch http://identifiers.org/snomedct/126835002 property_value: exactMatch http://identifiers.org/snomedct/126835002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020876 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020876 property_value: exactMatch NCIT:C3130 property_value: exactMatch NCIT:C3130 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/neoplasm.yaml [Term] id: EFO:1000982 name: inappropriate ADH syndrome def: "A condition of HYPONATREMIA and renal salt loss attributed to overexpansion of BODY FLUIDS resulting from sustained release of ANTIDIURETIC HORMONES which stimulates renal resorption of water. It is characterized by normal KIDNEY function, high urine OSMOLALITY, low serum osmolality, and neurological dysfunction. Etiologies include ADH-producing neoplasms, injuries or diseases involving the HYPOTHALAMUS, the PITUITARY GLAND, and the LUNG. This syndrome can also be drug-induced." [] def: "A syndrome characterized by abnormal secretion of antidiuretic hormone in conjunction with neoplastic growth occurring anywhere in the body." [NCIT:P378] synonym: "ectopic ADH secretion" EXACT [NCIT:C3988] synonym: "ectopic antidiuretic hormone secretion" EXACT [NCIT:C3988] synonym: "inappropriate ADH secretion" EXACT [NCIT:C3988] synonym: "Inappropriate ADH Syndrome" EXACT [] synonym: "inappropriate ADH syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "inappropriate antidiuretic hormone secretion syndrome" EXACT [NCIT:C3988] synonym: "inappropriate Arginine vasopressin secretion" EXACT [NCIT:C3988] synonym: "SIADH" EXACT ABBREVIATION [NCIT:C3988, Orphanet:83449] synonym: "syndrome of inappropriate antidiuretic hormone" EXACT [NCIT:C3988] synonym: "syndrome of Inappropriate Antidiuretic Hormone Secretion" EXACT [] synonym: "syndrome of inappropriate antidiuretic hormone secretion" EXACT [DOID:3401, NCIT:C3988] synonym: "syndrome of inappropriate secretion of ADH" EXACT [DOID:3401] synonym: "syndrome of inappropriate secretion of antidiuretic hormone" EXACT [DOID:3401] synonym: "syndrome of inappropriate vasopressin secretion" EXACT [NCIT:C3988] synonym: "syndrome of inappropriate vasopressin secretion (disorder)" EXACT [] xref: DOID:3401 {source="EFO:1000982", source="MONDO:equivalentTo"} xref: ICD9:253.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10042818 {source="EFO:1000982"} xref: MESH:D007177 {source="DOID:3401", source="EFO:1000982", source="MONDO:equivalentTo"} xref: MeSH:D007177 xref: MONDO:0006802 xref: NCIT:C3988 {source="DOID:3401", source="MONDO:equivalentTo"} xref: Orphanet:83449 {source="MONDO:equivalentObsolete"} xref: SCTID:55004003 {source="DOID:3401", source="MONDO:equivalentTo"} xref: UMLS:C0021141 {source="DOID:3401", source="MONDO:equivalentTo", source="NCIT:C3988"} is_a: EFO:0009607 {source="DOID:3401", source="MESH:D007177"} ! pituitary gland disease is_a: MONDO:0045072 {source="NCIT:C3988"} ! ectopic hormone secretion syndrome associated with neoplasia property_value: closeMatch http://identifiers.org/meddra/10042818 property_value: exactMatch DOID:3401 property_value: exactMatch http://identifiers.org/mesh/D007177 property_value: exactMatch http://identifiers.org/snomedct/55004003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0021141 property_value: exactMatch NCIT:C3988 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000983 name: inferior myocardial infarction def: "MYOCARDIAL INFARCTION in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery." [] def: "Myocardial infarction in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery." [MESH:D056989] synonym: "inferior myocardial infarction" EXACT [] {comment="preferred label from MONDO"} synonym: "Inferior myocardial infarction NOS (disorder)" EXACT [] synonym: "Inferior Wall Myocardial Infarction" EXACT [] xref: DOID:5850 {source="MONDO:equivalentTo", source="EFO:1000983"} xref: MedDRA:10057546 {source="EFO:1000983"} xref: MESH:D056989 {source="DOID:5850", source="MONDO:equivalentTo", source="EFO:1000983"} xref: MeSH:D056989 xref: MONDO:0006803 xref: UMLS:C0340305 {source="DOID:5850", source="MONDO:equivalentTo"} is_a: EFO:0000612 {source="DOID:5850", source="EFO:1000983", source="MESH:D056989"} ! myocardial infarction property_value: closeMatch http://identifiers.org/meddra/10057546 property_value: exactMatch DOID:5850 property_value: exactMatch http://identifiers.org/mesh/D056989 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0340305 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000984 name: inflammatory breast carcinoma def: "An advanced, invasive breast adenocarcinoma characterized by the presence of distinct changes in the overlying skin. These changes include diffuse erythema, edema, peau d'orange (skin of an orange) appearance, tenderness, induration, warmth, enlargement, and in some cases a palpable mass. The skin changes are the consequence of lymphatic obstruction from the underlying invasive breast adenocarcinoma. Microscopically, the dermal lymphatics show prominent infiltration by malignant cells. The invasive breast adenocarcinoma is usually of ductal, NOS type. There is not significant inflammatory cell infiltrate present, despite the name of this carcinoma." [NCIT:C4001] synonym: "breast cancer, inflammatory" RELATED [GARD:0006784] synonym: "IBC" RELATED ABBREVIATION [ONCOTREE:IBC] synonym: "inflammatory breast cancer" EXACT [NCIT:C4001] synonym: "inflammatory breast carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "inflammatory breast carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "inflammatory breast carcinoma" EXACT [NCIT:C4001] synonym: "inflammatory carcinoma of breast" EXACT [NCIT:C4001] synonym: "inflammatory carcinoma of the breast" EXACT [NCIT:C4001] synonym: "mastitis Carcinomatosa" EXACT [NCIT:C4001] synonym: "mastitis carcinomatosa" EXACT [DOID:6263, NCIT:C4001] xref: DOID:6263 {source="MONDO:equivalentTo", source="EFO:1000984"} xref: EFO:1000984 {source="MONDO:equivalentTo"} xref: GARD:0006784 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: ICDO:8530/3 {source="NCIT:C4001"} xref: MedDRA:10006205 {source="EFO:1000984"} xref: MESH:D058922 {source="MONDO:equivalentTo", source="EFO:1000984", source="DOID:6263"} xref: MONDO:0006804 xref: NCIT:C4001 {source="MONDO:equivalentTo", source="EFO:1000984", source="exact-label-match", source="DOID:6263"} xref: NCIT:C4001 {source="MONDO:equivalentTo", source="EFO:1000984", source="MONDO:exact-label-match", source="DOID:6263"} xref: ONCOTREE:IBC {source="MONDO:equivalentTo"} xref: SCTID:254840009 {source="MONDO:equivalentTo", source="EFO:1000984", source="DOID:6263"} xref: UMLS:C0278601 {source="NCIT:C4001", source="MONDO:equivalentTo", source="DOID:6263"} is_a: EFO:0000304 {source="DOID:6263", source="EFO:1000984", source="NCIT:C4001"} ! breast adenocarcinoma is_a: EFO:1000307 {source="NCIT:C4001"} ! Invasive Breast Carcinoma relationship: RO:0000056 GO:0006954 ! participates_in inflammatory response property_value: closeMatch http://identifiers.org/meddra/10006205 property_value: closeMatch http://identifiers.org/meddra/10006205 property_value: exactMatch DOID:6263 property_value: exactMatch DOID:6263 property_value: exactMatch http://identifiers.org/mesh/D058922 property_value: exactMatch http://identifiers.org/mesh/D058922 property_value: exactMatch http://identifiers.org/snomedct/254840009 property_value: exactMatch http://identifiers.org/snomedct/254840009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278601 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278601 property_value: exactMatch NCIT:C4001 property_value: exactMatch NCIT:C4001 [Term] id: EFO:1000985 name: intermediate coronary syndrome def: "Angina pectoris (or equivalent type of ischemic discomfort) which has recently changed in frequency, duration, intensity, or occurs at rest." [NCIT:P378] def: "Precordial pain at rest, which may precede a MYOCARDIAL INFARCTION." [] synonym: "(Angina: [crescendo] or [unstable] or [at rest]) or (preinfarction syndrome) or (impending infarction)" EXACT [] synonym: "Angina at rest" EXACT [] synonym: "angina at rest" EXACT [DOID:8805] synonym: "Angina, Unstable" EXACT [] synonym: "Anginal chest pain at rest" EXACT [] synonym: "anginal chest pain at rest" EXACT [DOID:8805] synonym: "impending infarction" EXACT [DOID:8805] synonym: "Impending infarction (disorder)" EXACT [] synonym: "intermediate coronary syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Preinfarction angina" EXACT [DOID:8805] synonym: "Preinfarction angina (disorder)" EXACT [] synonym: "Unstable angina" EXACT [] synonym: "unstable angina" EXACT [DOID:8805, MTH:NOCODE] synonym: "Worsening angina" EXACT [] synonym: "worsening angina" EXACT [DOID:8805] xref: DOID:8805 {source="MONDO:equivalentTo", source="EFO:1000985"} xref: ICD10CM:I20.0 {source="MONDO:equivalentTo", source="DOID:8805"} xref: ICD9:411.1 {source="DOID:8805", source="EFO:1000985"} xref: MedDRA:10022554 {source="EFO:1000985"} xref: MESH:D000789 {source="MONDO:equivalentTo", source="DOID:8805", source="EFO:1000985"} xref: MeSH:D000789 xref: MONDO:0006805 xref: UMLS:C0002965 {source="MONDO:equivalentTo", source="DOID:8805"} is_a: EFO:0001645 {source="DOID:8805", source="EFO:1000985", source="EFO:1000985/inferred"} ! coronary artery disease property_value: closeMatch http://identifiers.org/meddra/10022554 property_value: exactMatch DOID:8805 property_value: exactMatch http://identifiers.org/mesh/D000789 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002965 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/I20.0 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000986 name: intermediate uveitis def: "Inflammation of the pars plana, ciliary body, and adjacent structures." [] def: "Inflammation of the pars plana." [NCIT:C35110] subset: ordo_disease {source="Orphanet:279914"} synonym: "chronic cyclitis" EXACT [DOID:12732] synonym: "intermediate uveitis" EXACT [] {comment="preferred label from MONDO"} synonym: "intermediate uveitis" EXACT [MONDO:ambiguous] synonym: "intermediate uveitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "IU" EXACT ABBREVIATION [Orphanet:279914] synonym: "pars planitis" NARROW [NCIT:C35110] synonym: "peripheral uveoretinitis" EXACT [DOID:12732] synonym: "Uveitis, Intermediate" EXACT [] xref: DOID:12732 {source="MONDO:equivalentTo", source="EFO:1000986"} xref: HP:0012124 {source="MONDO:otherHierarchy"} xref: MedDRA:10022557 {source="Orphanet:279914/e", source="EFO:1000986", source="Orphanet:279914"} xref: MESH:D015867 {source="DOID:12732", source="MONDO:equivalentTo", source="EFO:1000986"} xref: MeSH:D015867 xref: MONDO:0006806 xref: NCIT:C35110 {source="DOID:12732", source="MONDO:equivalentTo", source="EFO:1000986"} xref: NCIt:C35110 xref: Orphanet:279914 {source="MONDO:equivalentTo"} xref: SCTID:314429009 {source="DOID:12732", source="MONDO:equivalentTo", source="EFO:1000986"} xref: SNOMEDCT:314429009 xref: UMLS:C0042166 {source="DOID:12732", source="Orphanet:279914/e", source="NCIT:C35110", source="MONDO:equivalentTo", source="Orphanet:279914"} is_a: EFO:1001231 {source="DOID:12732", source="EFO:1000986", source="MESH:D015867", source="NCIT:C35110", source="Orphanet:279914"} ! uveitis property_value: closeMatch http://identifiers.org/meddra/10022557 property_value: exactMatch DOID:12732 property_value: exactMatch http://identifiers.org/mesh/D015867 property_value: exactMatch http://identifiers.org/snomedct/314429009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042166 property_value: exactMatch NCIT:C35110 property_value: exactMatch Orphanet:279914 property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000589 "intermediate uveitis (disease)" xsd:string [Term] id: EFO:1000987 name: intestinal perforation def: "A rupture in the wall of the small or large intestine due to traumatic or pathologic processes." [NCIT:P378] def: "Opening or penetration through the wall of the INTESTINES." [] synonym: "bowel perforation" EXACT [NCIT:C39611] synonym: "Intestinal Perforation" EXACT [] synonym: "intestinal perforation" EXACT [] {comment="preferred label from MONDO"} synonym: "Perforation of intestine" EXACT [] synonym: "perforation of intestine" EXACT [DOID:2074, ICD9CM:569.83] xref: DOID:2074 {source="MONDO:equivalentTo", source="EFO:1000987"} xref: ICD10:P78.0 xref: ICD9:569.83 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2074"} xref: ICD9:777.6 {source="EFO:1000987"} xref: MedDRA:10022694 {source="EFO:1000987"} xref: MESH:D007416 {source="MONDO:equivalentTo", source="EFO:1000987", source="DOID:2074"} xref: MeSH:D007416 xref: MONDO:0006807 xref: NCIT:C39611 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="EFO:1000987", source="DOID:2074"} xref: NCIt:C39611 xref: SCTID:56905009 {source="MONDO:equivalentTo", source="EFO:1000987", source="DOID:2074"} xref: SNOMEDCT:56905009 xref: UMLS:C0021845 {source="MONDO:equivalentTo", source="DOID:2074"} is_a: EFO:0009431 {source="DOID:2074", source="EFO:1000987", source="MESH:D007416"} ! intestinal disease property_value: closeMatch http://identifiers.org/meddra/10022694 property_value: exactMatch DOID:2074 property_value: exactMatch http://identifiers.org/mesh/D007416 property_value: exactMatch http://identifiers.org/snomedct/56905009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0021845 property_value: exactMatch NCIT:C39611 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000988 name: intestinal pseudo-obstruction def: "A type of ILEUS, a functional not mechanical obstruction of the INTESTINES. This syndrome is caused by a large number of disorders involving the smooth muscles (MUSCLE, SMOOTH) or the NERVOUS SYSTEM." [] synonym: "Intestinal Pseudo-Obstruction" EXACT [] synonym: "intestinal Pseudo-obstruction" EXACT [] synonym: "intestine pseudoobstruction" EXACT [] synonym: "Pseudo-obstruction of intestine (disorder)" EXACT [] xref: DOID:3878 xref: MedDRA:10022698 xref: MeSH:D007418 xref: NCIt:C34733 is_a: HP:0004796 ! Gastrointestinal obstruction property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000989 name: intestinal volvulus def: "A twisting in the intestine (INTESTINES) that can cause INTESTINAL OBSTRUCTION." [] synonym: "Intestinal Volvulus" EXACT [] synonym: "intestinal volvulus (disorder)" EXACT [] synonym: "Twist of intestine, bowel, or colon" EXACT [] synonym: "Volvulus" EXACT [] synonym: "Volvulus (& [torsion of bowel])" EXACT [] synonym: "Volvulus NOS (disorder)" EXACT [] xref: DOID:8445 xref: MeSH:D045822 xref: NCIt:C98963 xref: SNOMEDCT:9707006 is_a: EFO:0010282 ! gastrointestinal disease is_a: HP:0004796 ! Gastrointestinal obstruction property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000990 name: intracranial arterial disease def: "Pathological conditions involving ARTERIES in the skull, such as arteries supplying the CEREBRUM, the CEREBELLUM, the BRAIN STEM, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes." [] def: "Pathological conditions involving arteries in the skull, such as arteries supplying the cerebrum, the cerebellum, the brain stem, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes." [MESH:D020765] synonym: "intracranial arterial disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Intracranial Arterial Diseases" EXACT [] xref: DOID:13089 {source="EFO:1000990", source="MONDO:equivalentTo"} xref: MESH:D020765 {source="EFO:1000990", source="MONDO:equivalentTo", source="DOID:13089"} xref: MeSH:D020765 xref: MONDO:0006808 xref: UMLS:C0752138 {source="MONDO:equivalentTo", source="DOID:13089"} is_a: EFO:0003763 {source="DOID:13089", source="EFO:1000990", source="MESH:D020765"} ! cerebrovascular disorder property_value: exactMatch DOID:13089 property_value: exactMatch http://identifiers.org/mesh/D020765 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0752138 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1000991 name: intracranial embolism def: "Blocking of a blood vessel in the SKULL by an EMBOLUS which can be a blood clot (THROMBUS) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with HEART DISEASES. Other non-cardiac sources of emboli are usually associated with VASCULAR DISEASES." [] def: "Blocking of a blood vessel in the skull by an embolus which can be a blood clot (thrombus) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with heart diseases. Other non-cardiac sources of emboli are usually associated with vascular diseases." [MESH:D020766] synonym: "cerebral embolism" EXACT [DOID:4372] synonym: "Cerebral embolism with cerebral infarction" EXACT [] synonym: "cerebral embolism with cerebral infarction" EXACT [DOID:4372] synonym: "Intracranial Embolism" EXACT [] synonym: "intracranial embolism" EXACT [] {comment="preferred label from MONDO"} xref: DOID:4372 {source="EFO:1000991", source="MONDO:equivalentTo"} xref: ICD9:434.1 {source="DOID:4372"} xref: ICD9:434.10 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D020766 {source="EFO:1000991", source="MONDO:equivalentTo", source="DOID:4372"} xref: MeSH:D020766 xref: MONDO:0006809 xref: SCTID:75543006 {source="MONDO:equivalentTo", source="DOID:4372"} is_a: EFO:0003763 {source="DOID:4372", source="EFO:1000991", source="MESH:D020766/inferred"} ! cerebrovascular disorder property_value: exactMatch DOID:4372 property_value: exactMatch http://identifiers.org/mesh/D020766 property_value: exactMatch http://identifiers.org/snomedct/75543006 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000992 name: intracranial hypertension def: "A finding characterized by increased cerebrospinal fluid pressure within the skull." [NCIT:P378] def: "Increased pressure within the cranial vault. This may result from several conditions, including HYDROCEPHALUS; BRAIN EDEMA; intracranial masses; severe systemic HYPERTENSION; PSEUDOTUMOR CEREBRI; and other disorders." [] synonym: "Intracranial Hypertension" EXACT [] synonym: "intracranial hypertension" EXACT [] {comment="preferred label from MONDO"} synonym: "Raised intracranial pressure" EXACT [] synonym: "raised intracranial pressure" EXACT [DOID:9428] xref: DOID:9428 {source="MONDO:equivalentTo", source="EFO:1000992"} xref: MedDRA:10022764 {source="EFO:1000992"} xref: MESH:D019586 {source="DOID:9428", source="MONDO:equivalentTo", source="EFO:1000992"} xref: MeSH:D019586 xref: MONDO:0006810 xref: NCIt:C84791 xref: UMLS:C0151740 {source="DOID:9428", source="MONDO:equivalentTo"} is_a: EFO:0000537 {source="EFO:1000992"} ! hypertension is_a: EFO:0005774 {source="DOID:9428", source="MESH:D019586"} ! brain disease is_a: MONDO:0043218 ! neurovascular disorder property_value: closeMatch http://identifiers.org/meddra/10022764 property_value: exactMatch DOID:9428 property_value: exactMatch http://identifiers.org/mesh/D019586 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151740 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000993 name: intracranial hypotension def: "Reduction of CEREBROSPINAL FLUID pressure characterized clinically by HEADACHE which is maximal in an upright posture and occasionally by an abducens nerve palsy (see ABDUCENS NERVE DISEASES), neck stiffness, hearing loss (see DEAFNESS); NAUSEA; and other symptoms. This condition may be spontaneous or secondary to SPINAL PUNCTURE; NEUROSURGICAL PROCEDURES; DEHYDRATION; UREMIA; trauma (see also CRANIOCEREBRAL TRAUMA); and other processes. Chronic hypotension may be associated with subdural hematomas (see HEMATOMA, SUBDURAL) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8)" [] def: "Reduction of cerebrospinal fluid pressure characterized clinically by headache which is maximal in an upright posture and occasionally by an abducens nerve palsy (see abducens nerve diseases), neck stiffness, hearing loss (see deafness); nausea; and other symptoms. This condition may be spontaneous or secondary to spinal puncture; neurosurgical procedures; dehydration; uremia; trauma (see also craniocerebral trauma); and other processes. Chronic hypotension may be associated with subdural hematomas (see hematoma, subdural) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8)" [MESH:D019585] synonym: "Intracranial Hypotension" EXACT [] synonym: "intracranial hypotension" EXACT [] {comment="preferred label from MONDO"} xref: DOID:4723 {source="EFO:1000993", source="MONDO:equivalentTo"} xref: ICD9:349.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10049977 {source="EFO:1000993"} xref: MESH:D019585 {source="DOID:4723", source="EFO:1000993", source="MONDO:equivalentTo"} xref: MeSH:D019585 xref: MONDO:0006811 xref: SCTID:433691000124104 {source="DOID:4723", source="EFO:1000993", source="MONDO:equivalentTo"} xref: SNOMEDCT:433691000124104 xref: UMLS:C0524812 {source="DOID:4723", source="MONDO:equivalentTo"} is_a: EFO:0005774 {source="DOID:4723", source="EFO:1000993", source="MESH:D019585"} ! brain disease property_value: closeMatch http://identifiers.org/meddra/10049977 property_value: exactMatch DOID:4723 property_value: exactMatch http://identifiers.org/mesh/D019585 property_value: exactMatch http://identifiers.org/snomedct/433691000124104 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0524812 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000994 name: intracranial vasospasm def: "Constriction of arteries in the SKULL due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and BRAIN ISCHEMIA that may lead to hypoxic-ischemic brain injury (HYPOXIA-ISCHEMIA, BRAIN)." [] def: "Constriction of arteries in the skull due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and brain ischemia that may lead to hypoxic-ischemic brain injury (hypoxia-ischemia, brain)." [MESH:D020301] synonym: "intracranial vasospasm" EXACT [] {comment="preferred label from MONDO"} synonym: "Vasospasm, Intracranial" EXACT [] xref: DOID:13100 {source="MONDO:equivalentTo", source="EFO:1000994"} xref: MESH:D020301 {source="MONDO:equivalentTo", source="EFO:1000994", source="DOID:13100"} xref: MeSH:D020301 xref: MONDO:0006812 xref: UMLS:C0751895 {source="MONDO:equivalentTo", source="DOID:13100"} is_a: EFO:0003763 {source="DOID:13100", source="EFO:1000994", source="MESH:D020301"} ! cerebrovascular disorder property_value: exactMatch DOID:13100 property_value: exactMatch http://identifiers.org/mesh/D020301 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751895 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1000995 name: intradermal nevus def: "A nevus characterized by the proliferation of nevus cells in the dermis without involvement of the dermal-epidermal junction." [NCIT:C3804] synonym: "dermal Nevus" EXACT [NCIT:C3804] synonym: "intradermal nevus" EXACT [] {comment="preferred label from MONDO"} synonym: "intradermal nevus" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:1000995 {source="MONDO:equivalentTo"} xref: ICDO:8750/0 {source="NCIT:C3804"} xref: MedDRA:10058537 {source="EFO:1000995"} xref: MESH:D018330 {source="MONDO:equivalentTo", source="EFO:1000995"} xref: MONDO:0006813 xref: NCIT:C3804 {source="MONDO:equivalentTo", source="EFO:1000995", source="MONDO:exact-label-match"} xref: NCIT:C3804 {source="MONDO:equivalentTo", source="EFO:1000995", source="exact-label-match"} xref: SCTID:302838006 {source="MONDO:equivalentTo"} xref: UMLS:C0206737 {source="NCIT:C3804", source="MONDO:equivalentTo"} is_a: EFO:0009675 {source="EFO:1000995", source="MESH:D018330", source="NCIT:C3804/inferred"} ! melanocytic nevus property_value: closeMatch DOID:2424 property_value: closeMatch http://identifiers.org/meddra/10058537 property_value: closeMatch http://identifiers.org/meddra/10058537 property_value: closeMatch http://identifiers.org/snomedct/112681002 property_value: exactMatch http://identifiers.org/mesh/D018330 property_value: exactMatch http://identifiers.org/mesh/D018330 property_value: exactMatch http://identifiers.org/snomedct/302838006 property_value: exactMatch http://identifiers.org/snomedct/302838006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206737 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206737 property_value: exactMatch NCIT:C3804 property_value: exactMatch NCIT:C3804 [Term] id: EFO:1000996 name: iris cancer def: "Tumors of the iris characterized by increased pigmentation of melanocytes. Iris nevi are composed of proliferated melanocytes and are associated with neurofibromatosis and malignant melanoma of the choroid and ciliary body. Malignant melanoma of the iris often originates from preexisting nevi." [] synonym: "Iris Neoplasms" EXACT [] synonym: "malignant neoplasm of iris" EXACT [] synonym: "malignant neoplasm of the Iris" EXACT [] synonym: "malignant tumor of iris" EXACT [] synonym: "malignant tumor of iris (disorder)" EXACT [] synonym: "tumor of iris (disorder)" EXACT [] synonym: "tumor of the Iris" EXACT [] xref: DOID:3478 xref: MeSH:D015811 is_a: EFO:0003824 ! eye neoplasm property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1000997 name: iritis def: "Inflammation of the iris characterized by circumcorneal injection, aqueous flare, keratotic precipitates, and constricted and sluggish pupil along with discoloration of the iris." [] def: "Inflammation of the iris." [NCIT:P378] synonym: "inflammation of iris" EXACT [] synonym: "iris inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "Iritis" EXACT [] synonym: "iritis" EXACT [] {comment="preferred label from MONDO"} synonym: "iritis" EXACT [MONDO:ambiguous] synonym: "iritis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:1406 {source="MONDO:equivalentTo", source="EFO:1000997"} xref: HP:0001101 {source="MONDO:otherHierarchy"} xref: MedDRA:10022955 {source="EFO:1000997"} xref: MESH:D007500 {source="MONDO:equivalentTo", source="EFO:1000997", source="DOID:1406"} xref: MeSH:D007500 xref: MONDO:0006814 xref: NCIT:C50621 {source="MONDO:equivalentTo", source="EFO:1000997", source="DOID:1406"} xref: NCIt:C50621 xref: SCTID:65074000 {source="MONDO:equivalentTo", source="EFO:1000997", source="DOID:1406"} xref: SNOMEDCT:65074000 xref: UMLS:C0022081 {source="NCIT:C50621", source="MONDO:equivalentTo", source="DOID:1406"} is_a: EFO:1001231 ! uveitis is_a: MONDO:0002289 {source="DOID:1406", source="MESH:D007500", source="MONDO:Redundant"} ! iris disorder relationship: RO:0000056 GO:0006954 ! participates_in inflammatory response property_value: closeMatch http://identifiers.org/meddra/10022955 property_value: exactMatch DOID:1406 property_value: exactMatch http://identifiers.org/mesh/D007500 property_value: exactMatch http://identifiers.org/snomedct/65074000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022081 property_value: exactMatch NCIT:C50621 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000589 "iritis (disease)" xsd:string [Term] id: EFO:1000998 name: jejunal cancer def: "A malignant neoplasm involving the jejunum." [https://orcid.org/0000-0002-6601-2165] def: "A malignant neoplasm involving the jejunum." [MONDO:DesignPattern] synonym: "cancer of jejunum" EXACT [MONDO:patterns/cancer] synonym: "jejunal cancer" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "jejunal cancer" EXACT [] {comment="preferred label from MONDO"} synonym: "jejunum cancer" EXACT [MONDO:patterns/location] synonym: "malignant jejunum neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of jejunum" EXACT [DOID:13499, ICD9CM:152.1, MONDO:patterns/cancer, MTH:U001249] synonym: "malignant neoplasm of jejunum" EXACT [DOID:13499, ICD9CM_2006:152.1, MONDO:patterns/cancer, MTH:U001249] synonym: "malignant tumor of jejunum" EXACT [DOID:13499] synonym: "malignant tumour of jejunum" EXACT OMO:0003005 [] xref: DOID:13499 {source="MONDO:equivalentTo", source="EFO:1000998"} xref: EFO:1000998 {source="MONDO:equivalentTo"} xref: ICD10:C17.1 {source="DOID:13499"} xref: ICD9:152.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13499"} xref: ICD9:152.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:13499"} xref: MedDRA:10023166 {source="EFO:1000998"} xref: MONDO:0006815 xref: SCTID:363404008 {source="MONDO:equivalentTo", source="DOID:13499"} xref: UMLS:C0153427 {source="MONDO:equivalentTo", source="DOID:13499"} is_a: MONDO:0000956 {source="DOID:13499", source="MONDO:Redundant", source="MONDO:cjm"} ! small intestine cancer is_a: MONDO:0002564 {source="MONDO:Redundant"} ! jejunal neoplasm property_value: closeMatch http://identifiers.org/meddra/10023166 property_value: closeMatch http://identifiers.org/meddra/10023166 property_value: closeMatch http://identifiers.org/snomedct/93846004 property_value: exactMatch DOID:13499 property_value: exactMatch DOID:13499 property_value: exactMatch http://identifiers.org/snomedct/363404008 property_value: exactMatch http://identifiers.org/snomedct/363404008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153427 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153427 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/cancer.yaml [Term] id: EFO:1000999 name: joint disease def: "Any disorder of the joints" [] def: "Any disorder of the joints." [NCIT:C35760] synonym: "ankylosis of ankle and foot joint" NARROW [DOID:381] synonym: "ankylosis of forearm joint" NARROW [DOID:381] synonym: "ankylosis of hand joint" NARROW [DOID:381] synonym: "ankylosis of joint of ankle and/or foot" EXACT [DOID:381] synonym: "ankylosis of joint of forearm" EXACT [DOID:381] synonym: "ankylosis of joint of hand" EXACT [DOID:381] synonym: "ankylosis of joint of lower leg" EXACT [DOID:381] synonym: "ankylosis of joint of multiple sites" NARROW [DOID:381] synonym: "ankylosis of joint of pelvic region and thigh" NARROW [DOID:381] synonym: "ankylosis of joint of shoulder region" NARROW [DOID:381] synonym: "ankylosis of joint of upper arm" EXACT [DOID:381] synonym: "ankylosis of lower leg joint" NARROW [DOID:381] synonym: "ankylosis of multiple joints" NARROW [DOID:381] synonym: "ankylosis of upper arm joint" NARROW [DOID:381] synonym: "arthropathy" EXACT [] {comment="preferred label from MONDO"} synonym: "arthropathy" EXACT [NCIT:C35760] synonym: "arthrosis" RELATED [] synonym: "disease of skeletal joint" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of skeletal joint" EXACT [] synonym: "disorder of joint" RELATED [] synonym: "disorder of skeletal joint" EXACT [MONDO:patterns/location_top] synonym: "disorder, Joint" EXACT [NCIT:C35760] synonym: "disorder, joint" EXACT [] synonym: "infectious arthropathy" NARROW [DOID:381] synonym: "Joint ankylosis of the ankle and foot" NARROW [DOID:381] synonym: "Joint ankylosis of the ankle and/or foot" EXACT [DOID:381] synonym: "Joint ankylosis of the forearm" NARROW [DOID:381] synonym: "Joint ankylosis of the hand" NARROW [DOID:381] synonym: "Joint ankylosis of the lower leg" NARROW [DOID:381] synonym: "Joint ankylosis of the pelvic region and thigh" NARROW [DOID:381] synonym: "Joint ankylosis of the shoulder region" NARROW [DOID:381] synonym: "Joint ankylosis of the upper arm" NARROW [DOID:381] synonym: "joint disease" RELATED [] synonym: "Joint disorder" EXACT [NCIT:C35760] synonym: "joint disorder" EXACT [] synonym: "joint disorder" RELATED [] synonym: "skeletal joint disease" EXACT [MONDO:patterns/location] synonym: "skeletal joint disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:381 {source="MONDO:equivalentTo", source="EFO:1000999"} xref: ICD10:M12 xref: ICD10:M18 xref: ICD10:M24 xref: ICD10:M25 xref: ICD10:M71 xref: ICD9:711 {source="DOID:381"} xref: ICD9:716.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:716.88 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:716.9 {source="DOID:381"} xref: ICD9:716.90 {source="DOID:381", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:716.98 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:719.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:719.88 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:719.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:719.9 {source="DOID:381"} xref: ICD9:719.90 {source="DOID:381", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:719.98 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10003285 {source="EFO:1000999"} xref: MESH:D007592 {source="DOID:381", source="MONDO:equivalentTo"} xref: MONDO:0006816 xref: NCIT:C35760 {source="DOID:381", source="MONDO:equivalentTo", source="EFO:1000999"} xref: NCIt:C35760 xref: SCTID:399269003 {source="DOID:381", source="MONDO:equivalentTo", source="EFO:1000999"} xref: SNOMEDCT:399269003 xref: UMLS:C0022408 {source="NCIT:C35760", source="DOID:381", source="MONDO:equivalentTo"} is_a: EFO:0002461 ! skeletal system disease property_value: closeMatch http://identifiers.org/meddra/10003285 property_value: exactMatch DOID:381 property_value: exactMatch http://identifiers.org/mesh/D007592 property_value: exactMatch http://identifiers.org/snomedct/399269003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022408 property_value: exactMatch NCIT:C35760 property_value: excluded_subClassOf MONDO:0002614 {source="DOID:381"} property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1001000 name: juxtacortical osteosarcoma def: "A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. Most patients are young adults and the prognosis is usually excellent." [NCIT:P378] synonym: "juxtacortical osteogenic sarcoma" EXACT [NCIT:C8969] synonym: "juxtacortical osteosarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "juxtacortical osteosarcoma" EXACT [NCIT:C8969] synonym: "juxtacortical osteosarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "PAOS" RELATED ABBREVIATION [ONCOTREE:PAOS] synonym: "parosteal osteogenic sarcoma" EXACT [DOID:3373, NCIT:C8969] synonym: "parosteal osteosarcoma" EXACT [DOID:3373, MTH:NOCODE, NCIT:C8969] xref: DOID:3373 {source="EFO:1001000", source="MONDO:equivalentTo"} xref: EFO:1001000 {source="MONDO:equivalentTo"} xref: ICDO:9192/3 {source="NCIT:C8969"} xref: MESH:D018217 {source="EFO:1001000", source="MONDO:equivalentTo", source="DOID:3373"} xref: MONDO:0006817 xref: NCIT:C8969 {source="MONDO:equivalentTo", source="DOID:3373"} xref: ONCOTREE:PAOS {source="MONDO:equivalentTo"} xref: UMLS:C0206642 {source="MONDO:equivalentTo", source="NCIT:C8969", source="DOID:3373"} is_a: MONDO:0002628 {source="DOID:3373", source="NCIT:C8969"} ! peripheral osteosarcoma property_value: closeMatch http://identifiers.org/snomedct/128918008 property_value: closeMatch http://identifiers.org/snomedct/189879006 property_value: closeMatch http://identifiers.org/snomedct/91242000 property_value: exactMatch DOID:3373 property_value: exactMatch DOID:3373 property_value: exactMatch http://identifiers.org/mesh/D018217 property_value: exactMatch http://identifiers.org/mesh/D018217 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206642 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206642 property_value: exactMatch NCIT:C8969 property_value: exactMatch NCIT:C8969 [Term] id: EFO:1001001 name: obsolete_keratoconjunctivitis sicca property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.22.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate of EFO_1000906 'dry eye syndrome'." xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_1000906 [Term] id: EFO:1001002 name: kernicterus def: "A term used pathologically to describe BILIRUBIN staining of the BASAL GANGLIA; BRAIN STEM; and CEREBELLUM and clinically to describe a syndrome associated with HYPERBILIRUBINEMIA. Clinical features include athetosis, MUSCLE SPASTICITY or hypotonia, impaired vertical gaze, and DEAFNESS. Nonconjugated bilirubin enters the brain and acts as a neurotoxin, often in association with conditions that impair the BLOOD-BRAIN BARRIER (e.g., SEPSIS). This condition occurs primarily in neonates (INFANT, NEWBORN), but may rarely occur in adults. (Menkes, Textbook of Child Neurology, 5th ed, p613)" [] synonym: "bilirubin encephalopathy" EXACT [] synonym: "Kernicterus" EXACT [] synonym: "Kernicterus of newborn (disorder)" EXACT [] synonym: "Kernicterus of newborn NOS (disorder)" EXACT [] xref: DOID:2382 xref: ICD10:P57 xref: MedDRA:10023376 xref: MeSH:D007647 xref: NCIt:C84799 xref: SNOMEDCT:74925009 is_a: EFO:0005774 ! brain disease is_a: EFO:0010238 ! perinatal disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001003 name: kidney cortex necrosis def: "Death of cells in the KIDNEY CORTEX, a common final result of various renal injuries including HYPOXIA; ISCHEMIA; and drug toxicity." [] def: "Death of cells in the kidney cortex, a common final result of various renal injuries including hypoxia; ischemia; and drug toxicity." [MESH:D007673] synonym: "Kidney Cortex Necrosis" EXACT [] synonym: "kidney cortex necrosis" EXACT [] {comment="preferred label from MONDO"} synonym: "renal cortical necrosis" EXACT [DOID:2973] synonym: "renal cortical necrosis NOS" EXACT [] xref: DOID:2973 {source="MONDO:equivalentTo", source="EFO:1001003"} xref: ICD9:583.6 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10023414 {source="EFO:1001003"} xref: MESH:D007673 {source="MONDO:equivalentTo", source="DOID:2973", source="EFO:1001003"} xref: MeSH:D007673 xref: MONDO:0006820 xref: SCTID:444691002 {source="MONDO:equivalentTo", source="DOID:2973"} is_a: EFO:0003086 {source="DOID:2973", source="EFO:1001003", source="MESH:D007673"} ! kidney disease property_value: closeMatch http://identifiers.org/meddra/10023414 property_value: exactMatch DOID:2973 property_value: exactMatch http://identifiers.org/mesh/D007673 property_value: exactMatch http://identifiers.org/snomedct/444691002 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001004 name: kidney papillary necrosis def: "A complication of kidney diseases characterized by cell death involving KIDNEY PAPILLA in the KIDNEY MEDULLA. Damages to this area may hinder the kidney to concentrate urine resulting in POLYURIA. Sloughed off necrotic tissue may block KIDNEY PELVIS or URETER. Necrosis of multiple renal papillae can lead to KIDNEY FAILURE." [] def: "A complication of kidney diseases characterized by cell death involving kidney papilla in the kidney medulla. Damages to this area may hinder the kidney to concentrate urine resulting in polyuria. Sloughed off necrotic tissue may block kidney pelvis or ureter. Necrosis of multiple renal papillae can lead to kidney failure." [MESH:D007681] synonym: "Kidney Papillary Necrosis" EXACT [] synonym: "kidney papillary necrosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Necrotising renal papillitis" EXACT [] synonym: "Necrotizing renal papillitis" EXACT [] synonym: "necrotizing renal papillitis" EXACT [DOID:2981] synonym: "papillary necrosis" EXACT [DOID:2981] synonym: "Papillary necrosis (disorder)" EXACT [] synonym: "renal PAPILLITIS NECROTIZING" EXACT [] synonym: "renal papillitis necrotizing" EXACT [DOID:2981, MTH:NOCODE] xref: DOID:2981 {source="EFO:1001004", source="MONDO:equivalentTo"} xref: ICD9:583.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10028865 {source="EFO:1001004"} xref: MESH:D007681 {source="DOID:2981", source="EFO:1001004", source="MONDO:equivalentTo"} xref: MeSH:D007681 xref: MONDO:0006821 xref: SCTID:90241004 {source="DOID:2981", source="MONDO:equivalentTo"} xref: UMLS:C0022667 {source="DOID:2981", source="MONDO:equivalentTo"} is_a: EFO:0003086 {source="DOID:2981", source="EFO:1001004", source="MESH:D007681", source="MONDO:Entailed"} ! kidney disease property_value: closeMatch http://identifiers.org/meddra/10028865 property_value: exactMatch DOID:2981 property_value: exactMatch http://identifiers.org/mesh/D007681 property_value: exactMatch http://identifiers.org/snomedct/90241004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022667 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001005 name: Klatskin's tumor def: "Cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts (COMMON HEPATIC DUCT). These tumors are generally small, sharply localized, and seldom metastasizing." [] synonym: "hilar cholangiocarcinoma" EXACT [] synonym: "Klatskin tumor" EXACT [] synonym: "Klatskin's Tumor" EXACT [] synonym: "Klatskin's tumor (disorder)" EXACT [] synonym: "Klatskin's tumor (morphologic abnormality)" EXACT [] synonym: "Perihilar extrahepatic bile duct carcinoma" EXACT [] xref: DOID:4927 xref: MeSH:D018285 is_a: EFO:0005221 ! cholangiocarcinoma property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001006 name: Klinefelter's syndrome def: "A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.)." [] def: "A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present." [NCIT:P378] synonym: "47,XXY syndrome" EXACT [NCIT:C34752, Orphanet:484] synonym: "Hypogonadotropic Hypogonadism" EXACT [] synonym: "hypogonadotropic hypogonadism" RELATED [NCIT:C34752] synonym: "Klinefelter Syndrome" EXACT [] synonym: "Klinefelter syndrome" EXACT [DOID:1921, NCIT:C34752] synonym: "Klinefelter syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Klinefelter's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant, NCIT:C34752] synonym: "Klinefelter's syndrome, XXY" EXACT [NCIT:C34752] synonym: "XXY syndrome" EXACT [DOID:1921, NCIT:C34752] synonym: "XXY syndrome (Klinefelter syndrome)" EXACT [NCIT:C34752] synonym: "XXY trisomy" EXACT [DOID:1921] xref: DOID:1921 {source="MONDO:equivalentTo", source="EFO:1001006"} xref: ICD9:758.7 {source="EFO:1001006", source="DOID:1921", source="MONDO:directSiblingOf"} xref: MedDRA:10023463 {source="EFO:1001006"} xref: MESH:D007713 {source="MONDO:equivalentTo", source="EFO:1001006", source="DOID:1921"} xref: MeSH:D007713 xref: MONDO:0006823 xref: NCIT:C34752 {source="MONDO:equivalentTo", source="EFO:1001006", source="DOID:1921"} xref: NCIt:C34752 xref: SCTID:405769009 {source="MONDO:equivalentTo", source="DOID:1921"} xref: SNOMEDCT:268300003 xref: UMLS:C0022735 {source="MONDO:equivalentTo", source="NCIT:C34752", source="DOID:1921"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0017975 {source="MONDO:cjm"} ! sex chromosome disorder of sex development is_a: MONDO:0700027 ! chromosome X disorder is_a: MONDO:0700065 {source="https://orcid.org/0000-0002-4142-7153"} ! trisomy property_value: closeMatch http://identifiers.org/meddra/10023463 property_value: exactMatch DOID:1921 property_value: exactMatch http://identifiers.org/mesh/D007713 property_value: exactMatch http://identifiers.org/snomedct/405769009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022735 property_value: exactMatch NCIT:C34752 property_value: excluded_subClassOf MONDO:0005027 {source="MONDO:0015652-obsoleted"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001007 name: krebs 2 carcinoma def: "Carcinoma having known association to krebs2 gene mutation" [EFO:1001007] synonym: "Krebs 2 carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "Krebs 2 carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:1001007 {source="MONDO:equivalentTo"} xref: MESH:D002287 {source="MONDO:equivalentTo", source="EFO:1001007"} xref: MONDO:0006824 xref: UMLS:C0007128 {source="MONDO:equivalentTo"} is_a: EFO:0000313 {source="EFO:1001007", source="MESH:D002287"} ! carcinoma property_value: closeMatch DOID:4711 property_value: exactMatch http://identifiers.org/mesh/D002287 property_value: exactMatch http://identifiers.org/mesh/D002287 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007128 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007128 [Term] id: EFO:1001008 name: kuru def: "A prion disease found exclusively among the Fore linguistic group natives of the highlands of NEW GUINEA. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773)" [] def: "A prion disease found exclusively among the Fore linguistic group natives of the highlands of new guinea. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773)" [MESH:D007729] subset: gard_rare {source="GARD:0007617"} subset: ordo_disease {source="Orphanet:454745"} synonym: "Kuru" EXACT [] synonym: "kuru" EXACT [] {comment="preferred label from MONDO"} synonym: "kuru encephalopathy" EXACT [DOID:648] xref: DOID:648 {source="MONDO:equivalentTo", source="EFO:1001008"} xref: ICD10:A81.81 xref: ICD10CM:A81.81 {source="DOID:648", source="MONDO:equivalentTo", source="EFO:1001008"} xref: ICD9:046.0 {source="DOID:648", source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:1001008"} xref: MedDRA:10023497 {source="EFO:1001008"} xref: MESH:D007729 {source="DOID:648", source="MONDO:equivalentTo", source="EFO:1001008"} xref: MeSH:D007729 xref: MONDO:0006825 xref: Orphanet:454745 {source="MONDO:equivalentTo"} xref: SCTID:86188000 {source="DOID:648", source="MONDO:equivalentTo", source="EFO:1001008"} xref: SNOMEDCT:86188000 xref: UMLS:C0022802 {source="DOID:648", source="MONDO:equivalentTo", source="Orphanet:454745"} is_a: EFO:0004280 ! movement disorder is_a: EFO:0004720 {source="DOID:648", source="EFO:1001008", source="MESH:D007729"} ! prion disease is_a: MONDO:0018926 {source="Orphanet:454745"} ! human prion disease relationship: disease_arises_from_feature EFO:0005772 ! neurodegenerative disease property_value: closeMatch http://identifiers.org/meddra/10023497 property_value: exactMatch DOID:648 property_value: exactMatch http://identifiers.org/mesh/D007729 property_value: exactMatch http://identifiers.org/snomedct/86188000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022802 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A81.81 property_value: exactMatch Orphanet:454745 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7617/kuru xsd:anyURI {source="GARD:0007617"} [Term] id: EFO:1001009 name: kwashiorkor def: "A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning \"displaced child\". Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed)" [] def: "A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning 'displaced child'. Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed)" [MESH:D007732] synonym: "Kwashiokor" EXACT [DOID:13579] synonym: "Kwashiorkor" EXACT [] synonym: "kwashiorkor" EXACT [] {comment="preferred label from MONDO"} synonym: "Nutritional edema with dyspigmentation of skin and hair" EXACT [] synonym: "nutritional edema with dyspigmentation of skin and hair" EXACT [DOID:13579] synonym: "nutritional edema with dyspigmentation of skin and/or hair" EXACT [DOID:13579] synonym: "nutritional oedema with dyspigmentation of skin and hair" EXACT OMO:0003005 [] synonym: "Nutritional oedema with dyspigmentation of skin and/or hair" EXACT [] synonym: "nutritional oedema with dyspigmentation of skin and/or hair" EXACT OMO:0003005 [] xref: DOID:13579 {source="MONDO:equivalentTo", source="EFO:1001009"} xref: ICD10:E40 xref: ICD10CM:E40 {source="DOID:13579", source="MONDO:equivalentTo", source="EFO:1001009"} xref: ICD9:260 {source="DOID:13579", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10023504 {source="EFO:1001009"} xref: MESH:D007732 {source="DOID:13579", source="MONDO:equivalentTo", source="EFO:1001009"} xref: MeSH:D007732 xref: MONDO:0006826 xref: SCTID:58262005 {source="DOID:13579", source="MONDO:equivalentTo", source="EFO:1001009"} xref: SNOMEDCT:58262005 xref: UMLS:C0022806 {source="DOID:13579", source="MONDO:equivalentTo"} is_a: EFO:0009563 {source="DOID:13579"} ! protein energy malnutrition property_value: closeMatch http://identifiers.org/meddra/10023504 property_value: exactMatch DOID:13579 property_value: exactMatch http://identifiers.org/mesh/D007732 property_value: exactMatch http://identifiers.org/snomedct/58262005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022806 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E40 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001010 name: Landau-Kleffner syndrome def: "A syndrome characterized by the onset of isolated language dysfunction in otherwise normal children (age of onset 4-7 years) and epileptiform discharges on ELECTROENCEPHALOGRAPHY. Seizures, including atypical absence (EPILEPSY, ABSENCE), complex partial (EPILEPSY, COMPLEX PARTIAL), and other types may occur. The electroencephalographic abnormalities and seizures tend to resolve by puberty. The language disorder may also resolve although some individuals are left with severe language dysfunction, including APHASIA and auditory AGNOSIA. (From Menkes, Textbook of Child Neurology, 5th ed, pp749-50; J Child Neurol 1997 Nov;12(8):489-495)" [] def: "Landau-Kleffner syndrome (LKS) is a rare neurological syndrome characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and recurrent seizures (epilepsy). Children with LKS typically develop normally until signs and symptoms of the syndrome begin to develop between age 2 and 8 years. Males are more often affected by LKS than females. In about 20% of people with LKS, mutations (changes) in the GRIN2A gene have been identified. The syndrome is inherited in an autosomal dominant manner. In other cases, the syndrome may be caused by changes to other unidentified genes. LKS is diagnosed when a doctor sees clinical features that are consistent with the syndrome such as a loss of speech and an electroencephalogram (EEG) that shows specific kinds of seizure activity. Genetic testing can be used to confirm if there is a mutation in GRIN2A, but this testing is not done routinely. Treatment for LKS usually consists of medications such as anticonvulsants and corticosteroids to help prevent seizures. Speech therapy should also be started promptly in order to ensure the best long-term outlook for children with LKS." [https://rarediseases.info.nih.gov/diseases/6855/landau-kleffner-syndrome] subset: gard_rare {source="GARD:0006855"} subset: ordo_disease {source="Orphanet:98818"} synonym: "acquired aphasia with convulsive disorder" RELATED [GARD:0006855] synonym: "acquired epileptic aphasia" EXACT [DOID:2538, Orphanet:98818] synonym: "acquired epileptiform aphasia" RELATED [GARD:0006855] synonym: "aphasia, acquired, with epilepsy" RELATED [OMIM:245570] synonym: "benign epilepsy of childhood with centrotemporal spikes" RELATED [OMIM:245570] synonym: "continuous Spike and waves during slow-Wave sleep syndrome" RELATED [OMIM:245570] synonym: "epilepsy, focal, with speech disorder and with or without impaired intellectual development" EXACT [OMIM:245570, OMIM:genemap2] synonym: "epilepsy, focal, with speech disorder and with or without intellectual disability" RELATED [MONDO:Lexical, OMIM:245570] synonym: "epilepsy, focal, with speech disorder and with or without mental retardation" RELATED DEPRECATED [MONDO:Lexical, OMIM:245570] synonym: "FESD" RELATED DEPRECATED [MONDO:Lexical, OMIM:245570] synonym: "Landau-Kleffner Syndrome" EXACT [] synonym: "Landau-Kleffner syndrome" EXACT [OMIM:245570] synonym: "Landau-Kleffner syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "LKS" EXACT ABBREVIATION [Orphanet:98818] synonym: "Rolandic epilepsy, intellectual disability, and speech dyspraxia, autosomal dominant" RELATED [OMIM:245570] synonym: "Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant" RELATED DEPRECATED [OMIM:245570] xref: DOID:2538 {source="EFO:1001010", source="MONDO:equivalentTo"} xref: MedDRA:10052075 {source="Orphanet:98818/e", source="Orphanet:98818"} xref: MedDRA:10052083 {source="EFO:1001010"} xref: MESH:D018887 {source="EFO:1001010", source="Orphanet:98818/e", source="MONDO:equivalentTo", source="DOID:2538", source="Orphanet:98818"} xref: MeSH:D018887 xref: MONDO:0009509 xref: NCIT:C84806 {source="EFO:1001010", source="MONDO:equivalentTo", source="DOID:2538"} xref: NCIt:C84806 xref: OMIM:245570 {source="MONDO:equivalentTo", source="Orphanet:98818/ntbt", source="DOID:2538", source="Orphanet:98818"} xref: Orphanet:98818 {source="OMIM:245570", source="MONDO:equivalentTo"} xref: SCTID:230438007 {source="MONDO:equivalentTo", source="DOID:2538"} xref: UMLS:C0282512 {source="OMIM:245570", source="Orphanet:98818/e", source="MONDO:equivalentTo", source="NCIT:C84806", source="DOID:2538", source="Orphanet:98818"} is_a: MONDO:0000414 {source="DOID:2538"} ! childhood electroclinical syndrome is_a: MONDO:0002254 {source="NCIT:C84806"} ! syndromic disease is_a: MONDO:0020072 {source="Orphanet:98818", source="https://orcid.org/0000-0001-8486-0558"} ! childhood-onset epilepsy syndrome property_value: closeMatch http://identifiers.org/meddra/10052075 property_value: closeMatch http://identifiers.org/meddra/10052083 property_value: exactMatch DOID:2538 property_value: exactMatch http://identifiers.org/mesh/D018887 property_value: exactMatch http://identifiers.org/snomedct/230438007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0282512 property_value: exactMatch https://omim.org/entry/245570 property_value: exactMatch NCIT:C84806 property_value: exactMatch Orphanet:98818 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6855/landau-kleffner-syndrome xsd:anyURI {source="GARD:0006855"} [Term] id: EFO:1001011 name: lateral medullary syndrome def: "A syndrome caused by an infarct in the vertebral or posterior inferior cerebellar artery. It is characterized by sensory defects affecting the same side of the face as the infarct and the opposite side of the trunk as the infarct. Patients experience difficulty swallowing and/or speaking." [NCIT:P378] def: "INFARCTION of the dorsolateral aspect of MEDULLA OBLONGATA in the BRAIN STEM. It is caused by occlusion of the VERTEBRAL ARTERY and/or the posterior inferior cerebellar artery. Clinical manifestations vary with the size of infarction, but may include loss of pain and temperature sensation in the ipsilateral face and contralateral body below the chin; ipsilateral HORNER SYNDROME; ipsilateral ATAXIA; DYSARTHRIA; VERTIGO; nausea, hiccup; dysphagia; and VOCAL CORD PARALYSIS. (From Adams et al., Principles of Neurology, 6th ed, p801)" [] subset: gard_rare synonym: "Lateral Medullary Syndrome" EXACT [] synonym: "Lateral medullary syndrome" RELATED [GARD:0009263] synonym: "lateral medullary syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "PICA syndrome" RELATED [GARD:0009263] synonym: "Posterior inferior cerebellar artery syndrome" EXACT [DOID:3522, GARD:0009263] synonym: "Posterior inferior cerebellar artery syndrome (disorder)" EXACT [] synonym: "Vertebral artery syndrome" RELATED [GARD:0009263] synonym: "Wallenberg syndrome" EXACT [DOID:3522] synonym: "Wallenberg's syndrome" EXACT [GARD:0009263, NCIT:C84807] xref: DOID:3522 {source="EFO:1001011", source="MONDO:equivalentTo"} xref: ICD9:437.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10024033 {source="EFO:1001011"} xref: MESH:D014854 {source="EFO:1001011", source="DOID:3522", source="MONDO:equivalentTo"} xref: MeSH:D014854 xref: MONDO:0006827 xref: NCIT:C84807 {source="EFO:1001011", source="DOID:3522", source="MONDO:equivalentTo"} xref: NCIt:C84807 xref: SCTID:78569004 {source="DOID:3522", source="MONDO:equivalentTo"} xref: UMLS:C0043019 {source="DOID:3522", source="MONDO:equivalentTo", source="NCIT:C84807"} is_a: EFO:1000847 {source="DOID:3522", source="EFO:1001011", source="MESH:D014854"} ! brain stem infarction is_a: MONDO:0002254 {source="NCIT:C84807"} ! syndromic disease property_value: closeMatch http://identifiers.org/meddra/10024033 property_value: exactMatch DOID:3522 property_value: exactMatch http://identifiers.org/mesh/D014854 property_value: exactMatch http://identifiers.org/snomedct/78569004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043019 property_value: exactMatch NCIT:C84807 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001012 name: leptomeningeal metastasis def: "A malignant neoplasm that has spread from its original site of growth to the leptomeninges. [ NCI ]" [] def: "Primary or secondary neoplasm in the ARACHNOID or SUBARACHNOID SPACE. It appears as a diffuse fibrotic thickening of the MENINGES associated with variable degrees of inflammation." [] synonym: "leptomeningeal metastases" EXACT [] synonym: "malignant meningitis (disorder)" EXACT [] synonym: "Meningeal Carcinomatosis" EXACT [] synonym: "Meningeal carcinomatosis" EXACT [] synonym: "metastatic malignant neoplasm in the Leptomeninges" EXACT [] synonym: "metastatic tumor to the Leptomeninges" EXACT [] xref: DOID:3872 xref: MeSH:D055756 xref: NCIt:C3814 is_a: EFO:0003851 ! meningeal neoplasm is_a: EFO:0009709 ! metastatic neoplasm property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001013 name: lethal midline granuloma def: "A condition that is characterized by inflammation, ulceration, and perforation of the nose and the PALATE with progressive destruction of midline facial structures. This syndrome can be manifested in several diseases including the nasal type of EXTRANODAL NK-T-CELL LYMPHOMA and GRANULOMATOSIS WITH POLYANGIITIS." [] def: "An aggressive, progressive, and destructive lesion affecting the nasal cavities, paranasal sinuses, and the palate. The vast majority of cases are malignant lymphoproliferations affecting the midline of the face in patients with nasal type extranodal NK/T-cell lymphoma." [NCIT:C8196] comment: Editor note: TODO granuloma DP synonym: "Granuloma, Lethal Midline" EXACT [] synonym: "lethal midline granuloma" RELATED [DOID:9072] synonym: "Lethal midline granuloma (disorder)" EXACT [] synonym: "malignant granuloma of face" EXACT [DOID:9072] synonym: "Midfacial Necrotising Lesion" EXACT [] synonym: "midfacial Necrotising lesion" EXACT [DOID:9072, NCIT:C8196] synonym: "Midline lethal granuloma of nasal cavity and paranasal sinus" EXACT [NCIT:C8196] synonym: "Midline lethal granuloma of the nasal cavity and paranasal sinus" EXACT [NCIT:C8196] synonym: "nasal cavity and paranasal sinus lethal Midline granuloma" EXACT [NCIT:C8196] synonym: "nasal cavity and paranasal sinus lethal midline granuloma" EXACT [] {comment="preferred label from MONDO"} xref: DOID:9072 {source="EFO:1001013", source="MONDO:equivalentTo"} xref: ICD10:M31.2 xref: ICD9:446.3 {source="DOID:9072", source="EFO:1001013"} xref: MedDRA:10024255 {source="EFO:1001013"} xref: MESH:D006103 {source="DOID:9072", source="EFO:1001013", source="MONDO:equivalentTo"} xref: MeSH:D006103 xref: MONDO:0006828 xref: NCIT:C8196 {source="DOID:9072", source="MONDO:equivalentTo", source="MONDO:otherHierarchy"} xref: SNOMEDCT:58961005 is_a: EFO:0005950 {source="EFO:1001013", source="MONDO:Entailed"} ! head and neck neoplasia is_a: MONDO:0002436 {source="DOID:9072", source="MESH:D006103"} ! nasal disorder property_value: closeMatch http://identifiers.org/meddra/10024255 property_value: exactMatch DOID:9072 property_value: exactMatch http://identifiers.org/mesh/D006103 property_value: exactMatch NCIT:C8196 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001014 name: leukemoid reaction def: "A hematology test result that indicates the presence of an increased white blood cell count and increased neutrophil precursors resembling leukemia, in a peripheral blood smear." [NCIT:P378] comment: Represents a finding, may be obsoleted. synonym: "leukemoid reaction" EXACT [] {comment="preferred label from MONDO"} synonym: "leukemoid reaction" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: COHD:432283 {source="MONDO:equivalentTo"} xref: EFO:1001014 {source="MONDO:equivalentTo"} xref: ICD10:D72.823 {source="MONDO:equivalentTo"} xref: ICD10CM:D72.823 {source="MONDO:equivalentTo"} xref: ICD9:288.62 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:288.62 {source="MONDO:equivalentTo", source="i2s"} xref: ICD9:288.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:288.8 {source="MONDO:relatedTo", source="i2s"} xref: MedDRA:10024373 {source="EFO:1001014"} xref: MESH:D007955 {source="MONDO:equivalentTo", source="EFO:1001014"} xref: MONDO:0006829 xref: SCTID:56478004 {source="MONDO:equivalentTo", source="EFO:1001014"} xref: UMLS:C0023501 {source="MONDO:equivalentTo"} is_a: EFO:0000200 {source="EFO:1001014"} ! plasma cell neoplasm property_value: closeMatch DOID:3166 property_value: closeMatch http://identifiers.org/meddra/10024373 property_value: closeMatch http://identifiers.org/meddra/10024373 property_value: exactMatch http://identifiers.org/mesh/D007955 property_value: exactMatch http://identifiers.org/mesh/D007955 property_value: exactMatch http://identifiers.org/snomedct/56478004 property_value: exactMatch http://identifiers.org/snomedct/56478004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023501 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023501 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D72.823 property_value: exactMatch NCIT:C3185 [Term] id: EFO:1001015 name: leukoplakia of penis def: "A precancerous condition characterized by the presence of abnormal whitish areas on the glans or prepuce of the penis. Risk factors include chronic irritation, inflammation, and infection of the penis, and poor genital hygiene." [NCIT:P378] def: "An atrophic and sclerotic condition of the head of the PENIS, glans penis. Sometimes it leads to stenosis and occasionally obliteration of the external meatal orifice." [] synonym: "Balanitis Xerotica Obliterans" EXACT [] synonym: "Kraurosis of penis" EXACT [] synonym: "kraurosis of penis" EXACT [DOID:8738] synonym: "kraurosis penis" EXACT [NCIT:C3151] synonym: "Leucoplakia of penis" EXACT [] synonym: "leukoplakia of penis" EXACT [] {comment="preferred label from MONDO"} synonym: "Leukoplakia of penis (disorder)" EXACT [] synonym: "leukoplakia of the penis" EXACT [NCIT:C3151] synonym: "Penile Leukoplakia" EXACT [] synonym: "penile leukoplakia" EXACT [DOID:8738, NCIT:C3151] xref: DOID:8738 {source="EFO:1001015", source="MONDO:equivalentTo"} xref: ICD10:N48.0 xref: ICD9:607.0 {source="DOID:8738", source="EFO:1001015", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10024394 {source="EFO:1001015"} xref: MeSH:D052798 xref: MONDO:0006830 xref: NCIT:C3151 {source="DOID:8738", source="MONDO:equivalentTo"} xref: SCTID:3323003 {source="DOID:8738", source="EFO:1001015", source="MONDO:equivalentTo"} xref: SNOMEDCT:3323003 xref: UMLS:C0022782 {source="NCIT:C3151", source="DOID:8738", source="MONDO:equivalentTo"} is_a: MONDO:0002036 {source="DOID:8738", source="MONDO:Redundant"} ! penile disorder is_a: MONDO:0043243 ! leukoplakia property_value: closeMatch http://identifiers.org/meddra/10024394 property_value: exactMatch DOID:8738 property_value: exactMatch http://identifiers.org/snomedct/3323003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022782 property_value: exactMatch NCIT:C3151 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001016 name: leukostasis def: "A disorder involving the aberrant infiltration and aggregation of leukocytes into the vasculature of the body. Leukostasis is typically detected in the brain and lungs of persons with leukemia. It requires substantial ablative modalities to both reduce the number of cells present and to ensure dispersion of the aggregates." [NCIT:P378] def: "Abnormal intravascular leukocyte aggregation and clumping often seen in leukemia patients. The brain and lungs are the two most commonly affected organs. This acute syndrome requires aggressive cytoreductive modalities including chemotherapy and/or leukophoresis. It is differentiated from LEUKEMIC INFILTRATION which is a neoplastic process where leukemic cells invade organs." [] synonym: "Leukostasis" EXACT [] synonym: "leukostasis" EXACT [] {comment="preferred label from MONDO"} synonym: "Leukostasis (morphologic abnormality)" EXACT [] synonym: "leukostasis (morphologic abnormality)" EXACT [DOID:12986] xref: DOID:12986 {source="MONDO:equivalentTo", source="EFO:1001016"} xref: MedDRA:10024404 {source="EFO:1001016"} xref: MESH:D018921 {source="DOID:12986", source="MONDO:equivalentTo", source="EFO:1001016"} xref: MeSH:D018921 xref: MONDO:0006831 xref: NCIt:C4062 xref: SNOMEDCT:30419000 xref: UMLS:C0282548 {source="DOID:12986", source="MONDO:equivalentTo"} is_a: MONDO:0004805 {source="DOID:12986", source="MESH:D018921"} ! leukocyte disorder property_value: closeMatch http://identifiers.org/meddra/10024404 property_value: exactMatch DOID:12986 property_value: exactMatch http://identifiers.org/mesh/D018921 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0282548 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001017 name: limited scleroderma def: "The least progressive form of SYSTEMIC SCLERODERMA with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The CREST SYNDROME is a form of limited scleroderma." [] synonym: "Limited cutaneous systemic sclerosis" EXACT [] synonym: "Scleroderma, Limited" EXACT [] synonym: "systemic sclerosis, limited" EXACT [] xref: DOID:1577 xref: MeSH:D045745 xref: SNOMEDCT:299276009 is_a: EFO:0000717 ! systemic scleroderma property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001018 name: lingual goiter def: "Pathological enlargement of the LINGUAL THYROID, ectopic thyroid tissue at the base of the TONGUE. It may cause upper AIRWAY OBSTRUCTION; DYSPHAGIA; or HYPOTHYROIDISM symptoms." [] def: "Pathological enlargement of the lingual thyroid, ectopic thyroid tissue at the base of the tongue. It may cause upper airway obstruction; dysphagia; or hypothyroidism symptoms." [MESH:D047268] synonym: "Lingual Goiter" EXACT [] synonym: "lingual goiter" EXACT [] {comment="preferred label from MONDO"} synonym: "Lingual goiter (disorder)" EXACT [] xref: DOID:13196 {source="MONDO:equivalentTo", source="EFO:1001018"} xref: ICD9:759.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D047268 {source="DOID:13196", source="MONDO:equivalentTo", source="EFO:1001018"} xref: MeSH:D047268 xref: MONDO:0006833 xref: SCTID:75667007 {source="DOID:13196", source="MONDO:equivalentTo", source="EFO:1001018"} xref: SNOMEDCT:75667007 xref: UMLS:C0271760 {source="DOID:13196", source="MONDO:equivalentTo"} is_a: EFO:0004283 {source="DOID:13196", source="EFO:1001018", source="MESH:D047268"} ! goiter property_value: exactMatch DOID:13196 property_value: exactMatch http://identifiers.org/mesh/D047268 property_value: exactMatch http://identifiers.org/snomedct/75667007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271760 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001019 name: lip cancer def: "A primary or metastatic malignant neoplasm involving the lip." [NCIT:C7485] synonym: "cancer of lip" EXACT [MONDO:patterns/cancer] synonym: "lip cancer" EXACT [] {comment="preferred label from MONDO"} synonym: "lip cancer" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "lip cancer" EXACT [MONDO:patterns/location] synonym: "malignant Lip neoplasm" EXACT [NCIT:C7485] synonym: "malignant lip neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant Lip tumor" EXACT [NCIT:C7485] synonym: "malignant Lip tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of commissure of lip" EXACT [DOID:8564] synonym: "malignant neoplasm of external Lip, not specified as upper or lower" EXACT [DOID:8564, MTHICD9_2006:140.9] synonym: "malignant neoplasm of external Lip, not specified as upper or lower" EXACT [DOID:8564] synonym: "malignant neoplasm of labial commissure of lip" EXACT [DOID:8564] synonym: "malignant neoplasm of labial commissure of lip" EXACT [DOID:8564, MTHICD9_2006:140.6] synonym: "malignant neoplasm of Lip" EXACT [NCIT:C7485] synonym: "malignant neoplasm of lip" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of lip, external" EXACT [DOID:8564] synonym: "malignant neoplasm of lip, inner aspect" EXACT [DOID:8564, MTH:NOCODE] synonym: "malignant neoplasm of lip, unspecified" EXACT [DOID:8564] synonym: "malignant neoplasm of lip, unspecified, inner aspect" EXACT [DOID:8564] synonym: "malignant neoplasm of lip, unspecified, vermilion border" EXACT [DOID:8564] synonym: "malignant neoplasm of lip, vermilion border" EXACT [DOID:8564] synonym: "malignant neoplasm of lower lip, buccal aspect" EXACT [DOID:8564] synonym: "malignant neoplasm of lower lip, inner aspect" EXACT [DOID:8564] synonym: "malignant neoplasm of lower lip, mucosa" EXACT [DOID:8564] synonym: "malignant neoplasm of lower lip, oral aspect" EXACT [DOID:8564, MTHICD9_2006:140.4] synonym: "malignant neoplasm of lower lip, oral aspect" EXACT [DOID:8564] synonym: "malignant neoplasm of oral aspect of lip, not specified whether upper or lower" EXACT [DOID:8564, MTHICD9_2006:140.5] synonym: "malignant neoplasm of oral aspect of lip, not specified whether upper or lower" EXACT [DOID:8564] synonym: "malignant neoplasm of other sites of lip" EXACT [DOID:8564] synonym: "malignant neoplasm of the Lip" EXACT [NCIT:C7485] synonym: "malignant neoplasm of vermilion border of lip" EXACT [DOID:8564] synonym: "malignant tumor of commissure of lip" EXACT [DOID:8564, MTH:NOCODE] synonym: "malignant tumor of labial commissure" EXACT [DOID:8564] synonym: "malignant tumor of labial mucosa" EXACT [DOID:8564] synonym: "malignant tumor of Lip" EXACT [NCIT:C7485] synonym: "malignant tumor of lip" EXACT [DOID:8564] synonym: "malignant tumor of lower labial mucosa" EXACT [DOID:8564] synonym: "malignant tumor of the Lip" EXACT [DOID:8564, NCIT:C7485] synonym: "malignant tumour of commissure of lip" EXACT OMO:0003005 [] synonym: "malignant tumour of labial commissure" EXACT OMO:0003005 [] synonym: "malignant tumour of labial commissure" EXACT [DOID:8564] synonym: "malignant tumour of labial mucosa" EXACT OMO:0003005 [] synonym: "malignant tumour of Lip" EXACT OMO:0003005 [] synonym: "malignant tumour of lip" EXACT [DOID:8564] synonym: "malignant tumour of lip" EXACT OMO:0003005 [] synonym: "malignant tumour of lower labial mucosa" EXACT OMO:0003005 [] synonym: "malignant tumour of the Lip" EXACT OMO:0003005 [] xref: DOID:8564 {source="MONDO:equivalentTo", source="EFO:1001019"} xref: EFO:1001019 {source="MONDO:equivalentTo"} xref: ICD10:C00 {source="MONDO:equivalentTo", source="DOID:8564"} xref: ICD10:C00.9 {source="DOID:8564"} xref: ICD10CM:C00 {source="MONDO:equivalentTo", source="DOID:8564"} xref: ICD9:140 {source="DOID:8564"} xref: ICD9:140.5 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:140.5 {source="MONDO:equivalentTo", source="i2s"} xref: ICD9:140.6 {source="DOID:8564"} xref: ICD9:140.8 {source="DOID:8564"} xref: MedDRA:10007089 {source="EFO:1001019"} xref: MESH:D008048 {source="MONDO:equivalentTo", source="EFO:1001019", source="DOID:8564"} xref: MONDO:0006834 xref: NCIT:C7485 {source="MONDO:equivalentTo", source="DOID:8564"} xref: SCTID:187622006 {source="MONDO:equivalentTo"} is_a: EFO:0005570 {source="DOID:8564", source="EFO:1001019"} ! oral cavity cancer is_a: MONDO:0021249 {source="MONDO:Redundant", source="NCIT:C7485"} ! lip neoplasm property_value: closeMatch http://identifiers.org/meddra/10007089 property_value: closeMatch http://identifiers.org/meddra/10007089 property_value: closeMatch http://identifiers.org/snomedct/187599002 property_value: closeMatch http://identifiers.org/snomedct/187625008 property_value: closeMatch http://identifiers.org/snomedct/187626009 property_value: closeMatch http://identifiers.org/snomedct/309808004 property_value: closeMatch http://identifiers.org/snomedct/363348004 property_value: closeMatch http://identifiers.org/snomedct/363374005 property_value: closeMatch http://identifiers.org/snomedct/93762003 property_value: closeMatch http://identifiers.org/snomedct/93869001 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153340 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153346 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153347 property_value: exactMatch DOID:8564 property_value: exactMatch DOID:8564 property_value: exactMatch http://identifiers.org/mesh/D008048 property_value: exactMatch http://identifiers.org/mesh/D008048 property_value: exactMatch http://identifiers.org/snomedct/187622006 property_value: exactMatch http://identifiers.org/snomedct/187622006 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/C00 property_value: exactMatch NCIT:C7485 property_value: exactMatch NCIT:C7485 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/cancer.yaml [Term] id: EFO:1001020 name: lipoid nephrosis def: "A glomerular disorder characterized by the electron microscopic finding of loss of podocyte foot processes. Light microscopic examination does not show glomerular changes. Patients present with proteinuria and nephrotic syndrome." [NCIT:C34844] def: "A kidney disease with no or minimal histological glomerular changes on light microscopy and with no immune deposits. It is characterized by lipid accumulation in the epithelial cells of KIDNEY TUBULES and in the URINE. Patients usually show NEPHROTIC SYNDROME indicating the presence of PROTEINURIA with accompanying EDEMA." [] synonym: "idiopathic minimal change nephrotic syndrome" RELATED [GARD:0009147] synonym: "lipoid nephrosis" EXACT [NCIT:C34844] synonym: "lipoid nephrosis" EXACT [] {comment="preferred label from MONDO"} synonym: "MCNS" RELATED ABBREVIATION [GARD:0009147] synonym: "minimal change disease" EXACT [DOID:10966, NCIT:C34844] synonym: "Minimal change disease (disorder)" EXACT [] synonym: "Minimal Change Glomerulonephritis" EXACT [] synonym: "minimal change glomerulonephritis" EXACT [DOID:10966, NCIT:C34844] synonym: "minimal change glomerulopathy" RELATED [GARD:0009147] synonym: "minimal change nephropathy" EXACT [NCIT:C34844] synonym: "minimal change nephrotic syndrome" RELATED [GARD:0009147] synonym: "Nephrosis, Lipoid" EXACT [] synonym: "Nephrotic syndrome with Lesion of Minimal Change Glomerulonephritis" EXACT [] synonym: "Nephrotic syndrome with lesion of minimal change glomerulonephritis" EXACT [] synonym: "nephrotic syndrome with lesion of minimal change glomerulonephritis" RELATED [DOID:10966, ICD9CM:581.3] synonym: "Nephrotic syndrome with lesion of minimal change nephrotic syndrome" EXACT [] synonym: "nephrotic syndrome with lesion of minimal change nephrotic syndrome" RELATED [DOID:10966] synonym: "nil disease" EXACT [NCIT:C34844] xref: DOID:10966 {source="EFO:1001020", source="MONDO:equivalentTo"} xref: MedDRA:10058325 {source="EFO:1001020"} xref: MESH:D009402 {source="EFO:1001020", source="DOID:10966", source="MONDO:equivalentTo"} xref: MeSH:D009402 xref: MONDO:0006835 xref: NCIT:C34844 {source="EFO:1001020", source="DOID:10966", source="MONDO:equivalentTo"} xref: NCIt:C34844 xref: SCTID:44785005 {source="EFO:1001020", source="DOID:10966", source="MONDO:equivalentTo"} xref: SNOMEDCT:44785005 xref: UMLS:C0027721 {source="DOID:10966", source="MONDO:equivalentTo"} is_a: MONDO:0002462 {source="DOID:10966", source="NCIT:C34844"} ! glomerulonephritis property_value: closeMatch http://identifiers.org/meddra/10058325 property_value: exactMatch DOID:10966 property_value: exactMatch http://identifiers.org/mesh/D009402 property_value: exactMatch http://identifiers.org/snomedct/44785005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027721 property_value: exactMatch NCIT:C34844 property_value: excluded_subClassOf MONDO:0005377 {source="DOID:10966"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001021 name: Listeria meningitis def: "Inflammation of the meninges caused by LISTERIA MONOCYTOGENES infection, usually occurring in individuals under the age of 3 years or over the age of 50 years. It may occur at any age in individuals with IMMUNOLOGIC DEFICIENCY SYNDROMES. Clinical manifestations include FEVER, altered mentation, HEADACHE, meningeal signs, focal neurologic signs, and SEIZURES. (From Medicine 1998 Sep;77(5):313-36)" [] def: "Inflammation of the meninges caused by listeria monocytogenes infection, usually occurring in individuals under the age of 3 years or over the age of 50 years. It may occur at any age in individuals with immunologic deficiency syndromes. Clinical manifestations include fever, altered mentation, headache, meningeal signs, focal neurologic signs, and seizures. (From Medicine 1998 Sep;77(5):313-36)" [MESH:D008584] synonym: "Cerebritides, Listeria" RELATED [MESH:D008584] synonym: "cerebritis, Listeria" RELATED [MESH:D008584] synonym: "Listeria Cerebritides" RELATED [MESH:D008584] synonym: "Listeria cerebritis" RELATED [MESH:D008584] synonym: "Listeria Meningitides" RELATED [MESH:D008584] synonym: "Listeria meningitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Listeria meningitis" EXACT [MESH:D008584] synonym: "Listeria Meningoencephalitides" RELATED [MESH:D008584] synonym: "Listeria meningoencephalitis" RELATED [MESH:D008584] synonym: "Listeria monocytogenes caused infectious meningitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Listeria monocytogenes infectious meningitis" EXACT [] synonym: "Listeria monocytogenes Meningitides" RELATED [MESH:D008584] synonym: "Listeria monocytogenes meningitis" RELATED [MESH:D008584] synonym: "Meningitides, Listeria" RELATED [MESH:D008584] synonym: "Meningitides, Listeria monocytogenes" RELATED [MESH:D008584] synonym: "Meningitis, Listeria" EXACT [] synonym: "meningitis, Listeria monocytogenes" RELATED [MESH:D008584] synonym: "Meningoencephalitides, Listeria" RELATED [MESH:D008584] synonym: "meningoencephalitis, Listeria" RELATED [MESH:D008584] xref: DOID:11572 {source="EFO:1001021", source="MONDO:equivalentTo"} xref: ICD9:320.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D008584 {source="EFO:1001021", source="MONDO:equivalentTo", source="DOID:11572"} xref: MeSH:D008584 xref: MONDO:0006836 xref: SCTID:31568009 {source="EFO:1001021", source="MONDO:equivalentTo", source="DOID:11572"} xref: SNOMEDCT:31568009 xref: UMLS:C0025293 {source="MONDO:equivalentTo", source="DOID:11572"} is_a: EFO:0007347 {source="MESH:D008584", source="MONDO:Redundant"} ! listeriosis is_a: EFO:1000831 {source="DOID:11572", source="EFO:1001021", source="MESH:D008584", source="MONDO:Redundant"} ! bacterial meningitis property_value: exactMatch DOID:11572 property_value: exactMatch http://identifiers.org/mesh/D008584 property_value: exactMatch http://identifiers.org/snomedct/31568009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025293 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001022 name: low tension glaucoma def: "A form of GLAUCOMA in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure." [] def: "A form of glaucoma in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure." [MESH:D057066] synonym: "glaucoma, Low tension" RELATED [MESH:D057066] synonym: "glaucoma, normal tension" RELATED [MESH:D057066] synonym: "Glaucomas, Low tension" RELATED [MESH:D057066] synonym: "Glaucomas, normal tension" RELATED [MESH:D057066] synonym: "Low Tension Glaucoma" EXACT [] synonym: "low tension glaucoma" EXACT [] {comment="preferred label from MONDO"} synonym: "low tension Glaucomas" RELATED [MESH:D057066] synonym: "Normal tension glaucoma" EXACT [] synonym: "normal tension glaucoma" EXACT [DOID:13544, MESH:D057066] synonym: "normal tension Glaucomas" RELATED [MESH:D057066] synonym: "tension glaucoma, Low" RELATED [MESH:D057066] synonym: "tension glaucoma, normal" RELATED [MESH:D057066] synonym: "tension Glaucomas, Low" RELATED [MESH:D057066] synonym: "tension Glaucomas, normal" RELATED [MESH:D057066] xref: DOID:13544 {source="EFO:1001022", source="MONDO:equivalentTo"} xref: ICD9:365.12 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13544"} xref: MedDRA:10024931 {source="EFO:1001022"} xref: MESH:D057066 {source="EFO:1001022", source="MONDO:equivalentTo", source="DOID:13544"} xref: MeSH:D057066 xref: MONDO:0006837 xref: SCTID:50485007 {source="EFO:1001022", source="MONDO:equivalentTo", source="DOID:13544"} xref: SNOMEDCT:50485007 xref: UMLS:C0152136 {source="MONDO:equivalentTo", source="DOID:13544"} is_a: EFO:0004190 {source="DOID:13544", source="EFO:1001022"} ! open-angle glaucoma is_a: MONDO:0002135 {source="MESH:D057066"} ! optic nerve disorder property_value: closeMatch http://identifiers.org/meddra/10024931 property_value: exactMatch DOID:13544 property_value: exactMatch http://identifiers.org/mesh/D057066 property_value: exactMatch http://identifiers.org/snomedct/50485007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152136 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001023 name: lupus vulgaris def: "A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the NASAL MUCOSA; BUCCAL MUCOSA; and conjunctival mucosa." [] def: "A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the nasal mucosa; buccal mucosa; and conjunctival mucosa." [MESH:D008177] synonym: "Lupus - tuberculous" EXACT [] synonym: "Lupus exedens" EXACT [] synonym: "lupus tuberculosis" EXACT [] synonym: "Lupus Vulgaris" EXACT [] synonym: "Lupus vulgaris" EXACT [] synonym: "lupus vulgaris" EXACT [] {comment="preferred label from MONDO"} synonym: "Lupus vulgaris (disorder)" EXACT [] synonym: "Tuberculosis - lupus NOS (disorder)" EXACT [] xref: DOID:5380 xref: MedDRA:10025143 {source="EFO:1001023"} xref: MESH:D008177 {source="EFO:1001023", source="MONDO:equivalentTo"} xref: MeSH:D008177 xref: MONDO:0006838 xref: SCTID:10528009 {source="EFO:1001023", source="MONDO:equivalentTo"} xref: SNOMEDCT:10528009 xref: UMLS:C0024131 {source="MONDO:equivalentTo"} is_a: MONDO:0000368 {source="https://orcid.org/0000-0002-6670-9157"} ! extrapulmonary tuberculosis property_value: closeMatch http://identifiers.org/meddra/10025143 property_value: exactMatch http://identifiers.org/mesh/D008177 property_value: exactMatch http://identifiers.org/snomedct/10528009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024131 property_value: excluded_subClassOf MONDO:0018076 {source="EFO:1001023", source="MESH:D008177/inferred"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4143 xsd:anyURI [Term] id: EFO:1001024 name: Lutembacher's syndrome def: "A condition characterized by a combination of OSTIUM SECUNDUM ATRIAL SEPTAL DEFECT and an acquired MITRAL VALVE STENOSIS." [] def: "A condition characterized by a combination of ostium secundum atrial septal defect and an acquired mitral valve stenosis." [MESH:D008185] synonym: "Lutembacher Syndrome" EXACT [] synonym: "Lutembacher syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Lutembacher syndrome" EXACT [DOID:1998] synonym: "Lutembacher's anomaly" EXACT [DOID:1998] synonym: "Lutembacher's anomaly (disorder)" EXACT [] synonym: "Lutembacher's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MESH:D008185, MONDO:LexicalVariant] synonym: "Lutembachers syndrome" RELATED [MESH:D008185] synonym: "syndrome, Lutembacher" RELATED [MESH:D008185] synonym: "syndrome, Lutembacher's" RELATED [MESH:D008185] xref: DOID:1998 {source="EFO:1001024", source="MONDO:equivalentTo"} xref: MESH:D008185 {source="EFO:1001024", source="MONDO:equivalentTo", source="DOID:1998"} xref: MeSH:D008185 xref: MONDO:0006839 xref: SCTID:204319006 {source="EFO:1001024", source="MONDO:equivalentTo", source="DOID:1998"} xref: SNOMEDCT:204319006 xref: UMLS:C0024164 {source="MONDO:equivalentTo", source="DOID:1998"} is_a: EFO:1000825 {source="DOID:1998", source="EFO:1001024", source="MESH:D008185"} ! atrial heart septal defect property_value: exactMatch DOID:1998 property_value: exactMatch http://identifiers.org/mesh/D008185 property_value: exactMatch http://identifiers.org/snomedct/204319006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024164 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001025 name: lymphangiectasis def: "A transient dilatation of the lymphatic vessels." [] def: "Dilatation of the lymphatic vessels." [NCIT:C97087] subset: gard_rare {source="GARD:0006933"} synonym: "Lymphangiectases (disorder)" EXACT [] synonym: "lymphangiectasia" RELATED [GARD:0006933] synonym: "Lymphangiectasis" EXACT [] synonym: "lymphangiectasis" EXACT [] {comment="preferred label from MONDO"} synonym: "Lymphangiectasis (morphologic abnormality)" EXACT [] xref: DOID:2402 xref: MedDRA:10025214 xref: MESH:D008200 {source="MONDO:equivalentTo", source="EFO:1001025"} xref: MeSH:D008200 xref: MONDO:0006840 xref: NCIT:C97087 {source="MONDO:equivalentTo"} xref: UMLS:C0024214 {source="GARD:0006933", source="MONDO:equivalentTo", source="NCIT:C97087"} is_a: EFO:0007352 {source="EFO:1001025", source="MESH:D008200"} ! lymphatic system disease is_a: MONDO:0021658 {source="NCIT:C97087"} ! vascular ectasia property_value: exactMatch http://identifiers.org/mesh/D008200 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024214 property_value: exactMatch NCIT:C97087 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6933/lymphangiectasis xsd:anyURI {source="GARD:0006933"} [Term] id: EFO:1001026 name: lymphangioendothelioma def: "A lymphangioma characterized by the presence of collagen bundle formation. It has an indolent clinical course and may be associated with skin plaques." [NCIT:C3203] synonym: "acquired progressive lymphangioma" EXACT [NCIT:C3203] synonym: "lymphangioendothelioma" EXACT [] {comment="preferred label from MONDO"} synonym: "lymphangioendothelioma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:1001026 {source="MONDO:equivalentTo"} xref: MONDO:0006841 xref: NCIT:C3203 {source="MONDO:equivalentTo"} xref: SCTID:403975006 {source="MONDO:equivalentTo"} is_a: MONDO:0002013 {source="NCIT:C3203"} ! lymphangioma property_value: closeMatch DOID:3340 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0024217 property_value: exactMatch http://identifiers.org/snomedct/403975006 property_value: exactMatch http://identifiers.org/snomedct/403975006 property_value: exactMatch NCIT:C3203 property_value: exactMatch NCIT:C3203 [Term] id: EFO:1001027 name: lymphangiomyoma def: "A neoplasm with perivascular epithelioid cell differentiation, often associated with tuberous sclerosis. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lymph nodes, lung, mediastinum, and retroperitoneum." [NCIT:C3204] synonym: "lymphangioleiomyoma" EXACT [NCIT:C3204] synonym: "lymphangiomyoma" EXACT [] {comment="preferred label from MONDO"} synonym: "lymphangiomyoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "lymphangiomyoma" EXACT [NCIT:C3204] xref: EFO:1001027 {source="MONDO:equivalentTo"} xref: ICDO:9174/0 {source="NCIT:C3204"} xref: MESH:D008203 {source="MONDO:equivalentTo", source="EFO:1001027"} xref: MONDO:0006842 xref: NCIT:C3204 {source="MONDO:equivalentTo", source="EFO:1001027"} xref: UMLS:C0024223 {source="MONDO:equivalentTo", source="NCIT:C3204"} is_a: EFO:1000464 {source="EFO:1001027", source="NCIT:C3204"} ! PEComa property_value: closeMatch DOID:2642 property_value: closeMatch http://identifiers.org/snomedct/25239006 property_value: exactMatch http://identifiers.org/mesh/D008203 property_value: exactMatch http://identifiers.org/mesh/D008203 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024223 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024223 property_value: exactMatch NCIT:C3204 property_value: exactMatch NCIT:C3204 [Term] id: EFO:1001028 name: macular holes def: "A hole in the macula of the retina." [NCIT:P378] def: "Perforations through the whole thickness of the retina including the macula as the result of inflammation, trauma, degeneration, etc. The concept includes retinal breaks, tears, dialyses, and holes." [] synonym: "Macular Hole" EXACT [] synonym: "Macular hole" EXACT [] synonym: "macular hole" EXACT [DOID:7633] synonym: "Macular hole (disorder)" EXACT [] synonym: "macular holes" EXACT [] {comment="preferred label from MONDO"} synonym: "Retinal Perforations" EXACT [] xref: DOID:7633 {source="MONDO:equivalentTo", source="EFO:1001028"} xref: MESH:D012167 {source="DOID:7633", source="MONDO:relatedTo", source="EFO:1001028"} xref: MeSH:D012167 xref: MONDO:0006843 xref: NCIT:C34795 {source="DOID:7633", source="MONDO:equivalentTo"} xref: SCTID:232006002 {source="DOID:7633", source="MONDO:equivalentTo"} xref: UMLS:C0024441 {source="DOID:7633", source="MONDO:equivalentTo", source="NCIT:C34795"} is_a: EFO:0003839 {source="DOID:7633"} ! retinopathy property_value: exactMatch DOID:7633 property_value: exactMatch http://identifiers.org/snomedct/232006002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024441 property_value: exactMatch NCIT:C34795 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001029 name: magnesium deficiency def: "A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936)" [MESH:D008275] synonym: "Magnesium Deficiency" EXACT [] synonym: "Magnesium deficiency" EXACT [] synonym: "magnesium deficiency" EXACT [] {comment="preferred label from MONDO"} synonym: "Magnesium deficiency (disorder)" EXACT [] xref: DOID:13581 xref: ICD10:E61.2 xref: ICD10CM:E61.2 {source="MONDO:equivalentTo", source="EFO:1001029"} xref: MedDRA:10025433 {source="EFO:1001029"} xref: MESH:D008275 {source="MONDO:equivalentTo", source="EFO:1001029"} xref: MeSH:D008275 xref: MONDO:0006844 xref: SCTID:238118002 {source="MONDO:equivalentTo", source="EFO:1001029"} xref: SNOMEDCT:238118002 xref: UMLS:C0024473 {source="MONDO:equivalentTo"} is_a: EFO:1001067 {source="EFO:1001029", source="MESH:D008275"} ! nutritional deficiency disease property_value: closeMatch http://identifiers.org/meddra/10025433 property_value: exactMatch http://identifiers.org/mesh/D008275 property_value: exactMatch http://identifiers.org/snomedct/238118002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024473 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E61.2 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001030 name: male genital tuberculosis def: "MYCOBACTERIUM infections of the male reproductive tract (GENITALIA, MALE)." [] def: "Mycobacterium infections of the male reproductive tract (genitalia, male)." [MESH:D014389] synonym: "genital Tuberculoses, Male" RELATED [MESH:D014389] synonym: "genital tuberculosis, Male" RELATED [MESH:D014389] synonym: "Male genital Tuberculoses" RELATED [MESH:D014389] synonym: "male genital tuberculosis" EXACT [MESH:D014389] synonym: "male genital tuberculosis" EXACT [] {comment="preferred label from MONDO"} synonym: "male reproductive system tuberculosis" EXACT [MONDO:patterns/location] synonym: "Tuberculoses, Male genital" RELATED [MESH:D014389] synonym: "Tuberculosis, Male Genital" EXACT [] xref: DOID:8024 xref: MedDRA:10061234 {source="EFO:1001030"} xref: MESH:D014389 {source="EFO:1001030", source="MONDO:equivalentTo"} xref: MeSH:D014389 xref: MONDO:0006845 xref: SCTID:240379005 {source="EFO:1001030", source="MONDO:equivalentTo"} xref: SNOMEDCT:240379005 xref: UMLS:C0041317 {source="MONDO:equivalentTo"} is_a: EFO:0007531 {source="MESH:D014389", source="MONDO:Redundant"} ! urogenital tuberculosis is_a: EFO:0009555 {source="MESH:D014389", source="MONDO:Redundant"} ! male reproductive system disease property_value: closeMatch http://identifiers.org/meddra/10061234 property_value: exactMatch http://identifiers.org/mesh/D014389 property_value: exactMatch http://identifiers.org/snomedct/240379005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041317 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001031 name: malignant hypertension def: "A condition of markedly elevated BLOOD PRESSURE with DIASTOLIC PRESSURE usually greater than 120 mm Hg. Malignant hypertension is characterized by widespread vascular damage, PAPILLEDEMA, retinopathy, HYPERTENSIVE ENCEPHALOPATHY, and renal dysfunction." [] def: "Severe hypertension that is characterized by rapid onset of extremely high blood pressure." [NCIT:P378] synonym: "accelerated-malignant hypertension" EXACT [PMID:26658350] synonym: "Hypertension, Malignant" EXACT [] synonym: "hypertensive emergency" EXACT [Wikipedia:Hypertensive_emergency] synonym: "malignant hypertension" EXACT [] {comment="preferred label from MONDO"} synonym: "malignant phase hypertension" EXACT [PMID:26658350] synonym: "MHT" BROAD ABBREVIATION [PMID:26658350] xref: DOID:10824 {source="EFO:1001031", source="MONDO:equivalentTo"} xref: MedDRA:10025600 {source="EFO:1001031"} xref: MESH:D006974 {source="EFO:1001031", source="MONDO:equivalentTo", source="DOID:10824"} xref: MeSH:D006974 xref: MONDO:0006846 xref: NCIt:C3118 xref: SCTID:70272006 {source="EFO:1001031", source="MONDO:equivalentTo", source="DOID:10824"} xref: SNOMEDCT:70272006 xref: UMLS:C0020540 {source="MONDO:equivalentTo", source="DOID:10824"} xref: UMLS:C0745136 {source="MONDO:equivalentTo"} is_a: EFO:0000537 {source="DOID:10824", source="EFO:1001031", source="MESH:D006974"} ! hypertension property_value: closeMatch http://identifiers.org/meddra/10025600 property_value: exactMatch DOID:10824 property_value: exactMatch http://identifiers.org/mesh/D006974 property_value: exactMatch http://identifiers.org/snomedct/70272006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020540 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0745136 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001032 name: malignant lymphatic vessel tumor def: "Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels." [MESH:D018190] comment: Editor note: do not axiomatize as cancer of lymphatic vessel synonym: "malignant lymphatic vessel tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "malignant lymphatic vessel tumor" EXACT [] {comment="preferred label from MONDO"} xref: EFO:1001032 {source="MONDO:equivalentTo"} xref: MONDO:0006847 is_a: EFO:0001642 {source="EFO:1001032"} ! lymphoid neoplasm is_a: EFO:0007352 ! lymphatic system disease property_value: closeMatch DOID:1744 property_value: closeMatch http://identifiers.org/mesh/D018190 property_value: closeMatch http://identifiers.org/snomedct/115236002 [Term] id: EFO:1001033 name: marasmus def: "The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses." [EFO:1001033] synonym: "marasmus" EXACT [] {comment="preferred label from MONDO"} synonym: "Nutritional atrophy" EXACT [] synonym: "nutritional atrophy" EXACT [DOID:12328] synonym: "Nutritional marasmus" EXACT [] synonym: "nutritional marasmus" EXACT [DOID:12328, ICD9CM:261] synonym: "Nutritional marasmus (disorder)" EXACT [] synonym: "Protein-Energy Malnutrition" EXACT [] xref: DOID:12328 {source="EFO:1001033", source="MONDO:equivalentTo"} xref: ICD10:E41 xref: ICD10:E46 xref: ICD10CM:E41 {source="DOID:12328", source="EFO:1001033", source="MONDO:equivalentTo"} xref: ICD9:261 {source="DOID:12328", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10026820 {source="EFO:1001033"} xref: MeSH:D011502 xref: MONDO:0006848 xref: SCTID:29740003 {source="DOID:12328", source="EFO:1001033", source="MONDO:equivalentTo"} xref: SNOMEDCT:29740003 xref: UMLS:C0086588 {source="DOID:12328", source="MONDO:equivalentTo"} is_a: EFO:0009563 {source="DOID:12328"} ! protein energy malnutrition property_value: closeMatch http://identifiers.org/meddra/10026820 property_value: exactMatch DOID:12328 property_value: exactMatch http://identifiers.org/snomedct/29740003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0086588 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E41 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001034 name: mastitis def: "Inflammation of breast tissue during lactation or postpartum due to an obstructed duct or infection. Mastitis can also occur in non-breastfeeding women, and rarely in men." [https://www.nhs.uk/conditions/mastitis/, NCIT:P378, Wikipedia:Mastitis#Types] def: "INFLAMMATION of the BREAST, or MAMMARY GLAND." [] synonym: "breast infection" EXACT [NCIT:C53662] synonym: "breast inflammation" EXACT [DOID:10690, MONDO:patterns/inflammatory_disease_by_site] synonym: "breast inflammation NOS" EXACT [] synonym: "breast inflammation NOS (disorder)" EXACT [] synonym: "inflammation of breast" EXACT [] synonym: "Inflammatory breast disease" EXACT [] synonym: "inflammatory breast disease" EXACT [DOID:10690] synonym: "Inflammatory disease of breast" EXACT [] synonym: "inflammatory disease of breast" EXACT [DOID:10690, ICD9CM:611.0] synonym: "Inflammatory disorder of breast (disorder)" EXACT [] synonym: "Mastitis" EXACT [] synonym: "mastitis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:10690 {source="EFO:1001034", source="MONDO:equivalentTo"} xref: ICD10:N61 xref: MedDRA:10026883 {source="EFO:1001034"} xref: MESH:D008413 {source="EFO:1001034", source="MONDO:equivalentTo", source="DOID:10690"} xref: MeSH:D008413 xref: MONDO:0006849 xref: NCIT:C53662 {source="EFO:1001034", source="MONDO:equivalentTo", source="DOID:10690"} xref: NCIt:C53662 xref: SCTID:45198002 {source="EFO:1001034", source="MONDO:equivalentTo", source="DOID:10690"} xref: SNOMEDCT:45198002 xref: UMLS:C0024894 {source="MONDO:equivalentTo", source="DOID:10690", source="NCIT:C53662"} xref: UMLS:C0392317 {source="MONDO:equivalentTo"} is_a: EFO:0009483 {source="DOID:10690", source="MESH:D008413", source="MONDO:Redundant", source="NCIT:C53662/inferred"} ! breast disease is_a: EFO:0009903 {source="MONDO:Redundant"} ! inflammatory disease relationship: RO:0000056 GO:0006954 ! participates_in inflammatory response property_value: closeMatch http://identifiers.org/meddra/10026883 property_value: exactMatch DOID:10690 property_value: exactMatch http://identifiers.org/mesh/D008413 property_value: exactMatch http://identifiers.org/snomedct/45198002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024894 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0392317 property_value: exactMatch NCIT:C53662 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001035 name: maxillary sinus neoplasm alt_id: MONDO:0021213 def: "A benign or malignant neoplasm that affects the maxillary sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." [NCIT:C3219] synonym: "maxillary antrum neoplasm" EXACT [NCIT:C3219] synonym: "maxillary antrum tumor" EXACT [NCIT:C3219] synonym: "maxillary antrum tumour" EXACT OMO:0003005 [] synonym: "maxillary sinus neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "maxillary sinus neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "maxillary sinus neoplasm" EXACT [NCIT:C3219] synonym: "maxillary sinus neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "maxillary sinus tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3219] synonym: "maxillary sinus tumour" EXACT OMO:0003005 [] synonym: "maxillofacial sinus neoplasm" EXACT [NCIT:C3219] synonym: "maxillofacial sinus tumor" EXACT [NCIT:C3219] synonym: "maxillofacial sinus tumour" EXACT OMO:0003005 [] synonym: "neoplasm of maxillary antrum" EXACT [NCIT:C3219] synonym: "neoplasm of maxillary sinus" EXACT [MONDO:patterns/neoplasm, NCIT:C3219] synonym: "neoplasm of maxillofacial sinus" EXACT [NCIT:C3219] synonym: "neoplasm of the maxillary antrum" EXACT [NCIT:C3219] synonym: "neoplasm of the maxillary sinus" EXACT [NCIT:C3219] synonym: "neoplasm of the maxillofacial sinus" EXACT [NCIT:C3219] synonym: "tumor of maxillary antrum" EXACT [NCIT:C3219] synonym: "tumor of maxillary sinus" EXACT [MONDO:patterns/neoplasm, NCIT:C3219] synonym: "tumor of maxillofacial sinus" EXACT [DOID:1358, NCIT:C3219] synonym: "tumor of the maxillary antrum" EXACT [NCIT:C3219] synonym: "tumor of the maxillary sinus" EXACT [NCIT:C3219] synonym: "tumor of the maxillofacial sinus" EXACT [NCIT:C3219] synonym: "tumour of maxillary antrum" EXACT OMO:0003005 [] synonym: "tumour of maxillary sinus" EXACT OMO:0003005 [] synonym: "tumour of maxillofacial sinus" EXACT OMO:0003005 [] synonym: "tumour of the maxillary antrum" EXACT OMO:0003005 [] synonym: "tumour of the maxillary sinus" EXACT OMO:0003005 [] synonym: "tumour of the maxillofacial sinus" EXACT OMO:0003005 [] xref: DOID:1358 {source="EFO:1001035", source="MONDO:equivalentTo"} xref: EFO:1001035 {source="MONDO:equivalentTo"} xref: MedDRA:10026130 {source="EFO:1001035"} xref: MESH:D008444 {source="EFO:1001035", source="MONDO:equivalentTo", source="DOID:1358"} xref: MONDO:0006850 xref: NCIT:C3219 {source="EFO:1001035", source="MONDO:equivalentTo", source="DOID:1358"} xref: SCTID:126676009 {source="MONDO:equivalentTo", source="DOID:1358"} xref: UMLS:C0024958 {source="MONDO:equivalentTo", source="DOID:1358", source="NCIT:C3219"} is_a: EFO:0003866 {source="DOID:1358", source="EFO:1001035", source="MONDO:Redundant", source="NCIT:C3219"} ! paranasal sinus neoplasm is_a: EFO:0007360 ! maxillary neoplasm property_value: closeMatch http://identifiers.org/meddra/10026130 property_value: closeMatch http://identifiers.org/meddra/10026130 property_value: exactMatch DOID:1358 property_value: exactMatch DOID:1358 property_value: exactMatch http://identifiers.org/mesh/D008444 property_value: exactMatch http://identifiers.org/mesh/D008444 property_value: exactMatch http://identifiers.org/snomedct/126676009 property_value: exactMatch http://identifiers.org/snomedct/126676009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024958 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024958 property_value: exactMatch NCIT:C3219 property_value: exactMatch NCIT:C3219 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/neoplasm.yaml [Term] id: EFO:1001036 name: Meckel's diverticulum def: "A congenital abnormality characterized by the outpouching or sac formation in the ILEUM. It is a remnant of the embryonic YOLK SAC in which the VITELLINE DUCT failed to close." [] def: "A congenital pouch in the distal ileum. It may cause painless rectal bleeding and bowel obstruction." [NCIT:P378] synonym: "Meckel Diverticulum" EXACT [] synonym: "Meckel diverticulum" EXACT [] {comment="preferred label from MONDO"} synonym: "Meckel diverticulum" EXACT [DOID:9487, NCIT:C12264, OMIM:155140] synonym: "Meckel's diverticulum" EXACT [EFO:1001036] synonym: "Persistent vitelline duct" EXACT [] synonym: "persistent vitelline duct" EXACT [DOID:9487] xref: DOID:9487 {source="MONDO:equivalentTo", source="EFO:1001036"} xref: ICD10:Q43.0 xref: ICD9:751.0 {source="MONDO:equivalentTo", source="EFO:1001036", source="MONDO:i2s", source="DOID:9487"} xref: MedDRA:10027055 {source="EFO:1001036"} xref: MESH:D008467 {source="MONDO:equivalentTo", source="EFO:1001036", source="DOID:9487"} xref: MeSH:D008467 xref: MONDO:0007955 xref: NCIT:C12264 {source="MONDO:finding", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:9487"} xref: OMIM:155140 {source="MONDO:equivalentTo", source="DOID:9487"} xref: SCTID:37373007 {source="MONDO:equivalentTo", source="EFO:1001036", source="DOID:9487"} xref: SNOMEDCT:37373007 is_a: EFO:0000508 {source="EFO:1001036"} ! genetic disorder property_value: closeMatch http://identifiers.org/meddra/10027055 property_value: exactMatch DOID:9487 property_value: exactMatch http://identifiers.org/mesh/D008467 property_value: exactMatch http://identifiers.org/snomedct/37373007 property_value: exactMatch https://omim.org/entry/155140 property_value: exactMatch NCIT:C12264 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001037 name: meconium aspiration syndrome def: "A condition caused by inhalation of MECONIUM into the LUNG of FETUS or NEWBORN, usually due to vigorous respiratory movements during difficult PARTURITION or respiratory system abnormalities. Meconium aspirate may block small airways leading to difficulties in PULMONARY GAS EXCHANGE and ASPIRATION PNEUMONIA." [] def: "A serious condition in which a newborn breathes a mixture of meconium (the first intestinal discharge) and amniotic fluid into the lungs around the time of delivery. Meconium aspiration syndrome occurs in 5-10 percent of births and typically occurs when the infant is stressed, as when the infant is past its due date." [NCIT:C87093] comment: Editor note: ORDO says this is rare, yet NCIT says 5-10% of births subset: ordo_disease {source="Orphanet:70588"} synonym: "aspiration syndrome, meconium" RELATED [MESH:D008471] synonym: "aspiration, meconium" RELATED [MESH:D008471] synonym: "MAS" EXACT ABBREVIATION [NCIT:C87093] synonym: "meconium aspiration" EXACT [DOID:11049, MESH:D008471] synonym: "Meconium Aspiration Syndrome" EXACT [] synonym: "meconium aspiration syndrome" EXACT [NCIT:C87093] synonym: "meconium aspiration syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "meconium inhalation" RELATED [MESH:D008471] synonym: "neonatal aspiration of meconium" EXACT [DOID:11049, NCIT:C87093] synonym: "Neonatal aspiration of meconium (disorder)" EXACT [] synonym: "syndrome, meconium aspiration" RELATED [MESH:D008471] xref: DOID:11049 {source="EFO:1001037", source="MONDO:equivalentTo"} xref: ICD10:P24.0 xref: ICD9:770.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10027057 {source="EFO:1001037"} xref: MedDRA:10076496 xref: MESH:D008471 {source="DOID:11049", source="EFO:1001037", source="MONDO:equivalentTo", source="Orphanet:70588", source="Orphanet:70588/e"} xref: MeSH:D008471 xref: MONDO:0006851 xref: NCIT:C87093 {source="DOID:11049", source="EFO:1001037", source="MONDO:equivalentTo"} xref: NCIt:C87093 xref: Orphanet:70588 {source="MONDO:equivalentTo"} xref: SCTID:206292002 {source="DOID:11049", source="EFO:1001037", source="MONDO:equivalentTo"} xref: SNOMEDCT:206292002 xref: UMLS:C0025048 {source="NCIT:C87093", source="DOID:11049", source="MONDO:equivalentTo", source="Orphanet:70588", source="Orphanet:70588/e"} is_a: MONDO:0024263 ! neonatal aspiration syndrome property_value: closeMatch http://identifiers.org/meddra/10027057 property_value: exactMatch DOID:11049 property_value: exactMatch http://identifiers.org/mesh/D008471 property_value: exactMatch http://identifiers.org/snomedct/206292002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025048 property_value: exactMatch NCIT:C87093 property_value: exactMatch Orphanet:70588 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001038 name: melanotic neuroectodermal tumor def: "A benign, rapidly growing, deeply pigmented tumor of the jaw and occasionally of other sites, consisting of an infiltrating mass of cells arranged in an alveolar pattern, and occurring almost exclusively in infants. Its source of origin is in dispute, the various theories giving rise to its several names. (Dorland, 27th ed)" [] synonym: "Infantile Melanotic neuroectodermal neoplasm" EXACT [] synonym: "Melanotic neuroectodermal tumor (morphologic abnormality)" EXACT [] synonym: "Melanotic neuroectodermal tumor of infancy (morphologic abnormality)" EXACT [] synonym: "Neuroectodermal Tumor, Melanotic" EXACT [] synonym: "Pigmented neuroectodermal tumour of infancy" EXACT [] xref: DOID:166 xref: MeSH:D017600 xref: NCIt:C3717 xref: SNOMEDCT:1513001 is_a: EFO:0003820 ! bone neoplasm property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001039 name: Melkersson-Rosenthal syndrome def: "An idiopathic syndrome characterized by one or more of the following; recurrent orofacial swelling, relapsing facial paralysis, and fissured tongue (lingua plicata). The onset is usually in childhood and relapses are common. Cheilitis granulomatosa is a monosymptomatic variant of this condition. (Dermatol Clin 1996 Apr;14(2):371-9; Magalini & Magalini, Dictionary of Medical Syndromes, 4th ed, p531)" [] def: "The Melkersson-Rosenthal syndrome is a rare disorder characterized by a triad of recurrent orofacial swelling, relapsing facial paralysis and fissured tongue and onset in childhood or early adolescence. It has an estimated incidence of 8/10,000. The etiology is unknown but hereditary predisposition is suspected." [Orphanet:2483] subset: gard_rare {source="GARD:0007010"} subset: ordo_malformation_syndrome {source="Orphanet:2483"} synonym: "cheilitis Granulomatosa" RELATED [GARD:0007010] synonym: "Cheilitis granulomatosa of Mescher-Melkersson-Rosenthal" EXACT [] synonym: "cheilitis granulomatosa of Mescher-Melkersson-Rosenthal" EXACT [DOID:1761] synonym: "Cheilitis granulomatosa of Miescher-Melkersson-Rosenthal (disorder)" EXACT [] synonym: "Melkersson syndrome" RELATED [OMIM:155900] synonym: "Melkersson's syndrome" EXACT [DOID:1761] synonym: "Melkersson's syndrome (disorder)" EXACT [] synonym: "Melkersson-Rosenthal Syndrome" EXACT [] synonym: "Melkersson-Rosenthal syndrome" EXACT [OMIM:155900] synonym: "Melkersson-Rosenthal syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Mros" RELATED [OMIM:155900] synonym: "MRS" RELATED ABBREVIATION [GARD:0007010] xref: DOID:1761 {source="MONDO:equivalentTo", source="EFO:1001039"} xref: MedDRA:10027166 {source="Orphanet:2483/e", source="EFO:1001039", source="Orphanet:2483"} xref: MESH:D008556 {source="Orphanet:2483/e", source="DOID:1761", source="MONDO:equivalentTo", source="EFO:1001039", source="Orphanet:2483"} xref: MeSH:D008556 xref: MONDO:0007969 xref: NCIT:C84886 {source="DOID:1761", source="MONDO:equivalentTo", source="EFO:1001039"} xref: NCIt:C84886 xref: OMIM:155900 {source="Orphanet:2483/e", source="DOID:1761", source="MONDO:equivalentTo", source="Orphanet:2483"} xref: Orphanet:2483 {source="MONDO:equivalentTo", source="OMIM:155900"} xref: UMLS:C0025235 {source="NCIT:C84886", source="Orphanet:2483/e", source="DOID:1761", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:155900", source="Orphanet:2483"} is_a: EFO:0000540 ! immune system disease is_a: EFO:0005531 {source="Orphanet:2483"} ! urticaria is_a: EFO:1002051 {source="DOID:1761", source="MESH:D008556"} ! facial nerve disease is_a: MONDO:0002102 {source="DOID:1761"} ! cheilitis is_a: MONDO:0002254 {source="NCIT:C84886"} ! syndromic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0019298"} ! rare property_value: closeMatch http://identifiers.org/meddra/10027166 property_value: exactMatch DOID:1761 property_value: exactMatch http://identifiers.org/mesh/D008556 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025235 property_value: exactMatch https://omim.org/entry/155900 property_value: exactMatch NCIT:C84886 property_value: exactMatch Orphanet:2483 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7010/melkersson-rosenthal-syndrome xsd:anyURI {source="GARD:0007010"} [Term] id: EFO:1001040 name: meningococcal meningitis def: "A fulminant infection of the meninges and subarachnoid fluid by the bacterium NEISSERIA MENINGITIDIS, producing diffuse inflammation and peri-meningeal venous thromboses. Clinical manifestations include FEVER, nuchal rigidity, SEIZURES, severe HEADACHE, petechial rash, stupor, focal neurologic deficits, HYDROCEPHALUS, and COMA. The organism is usually transmitted via nasopharyngeal secretions and is a leading cause of meningitis in children and young adults. Organisms from Neisseria meningitidis serogroups A, B, C, Y, and W-135 have been reported to cause meningitis. (From Adams et al., Principles of Neurology, 6th ed, pp689-701; Curr Opin Pediatr 1998 Feb;10(1):13-8)" [] def: "An acute bacterial disease caused by Neisseria meningitides that presents usually, but not always, with a rash (non blanching petechial or purpuric rash), progressively developing signs of meningitis (fever, vomiting, headache, photophobia, and neck stiffness) and later leading to confusion, delirium and drowsiness. Neck stiffness and photophobia are often absent in infants and young children who may manifest nonspecific signs such as irritability, inconsolable crying, poor feeding, and a bulging fontanel. Meningococcal meningitis may also present as part of early or late onset sepsis in neonates. The disease is potentially fatal. Surviving patients may develop neurological sequelae that include sensorineural hearing loss, seizures, spasticity, attention deficits and intellectual disability." [Orphanet:33475] subset: ordo_disease {source="Orphanet:33475"} synonym: "Meningitis, Meningococcal" EXACT [] synonym: "meningococcal meningitis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0080176 {source="MONDO:equivalentTo"} xref: DOID:9929 xref: ICD10:A39.0 xref: ICD10CM:A39.0 {source="DOID:0080176", source="MONDO:equivalentTo", source="EFO:1001040"} xref: ICD10EXP:A39.0+ {source="Orphanet:33475/e", source="Orphanet:33475"} xref: ICD10EXP:G01* {source="Orphanet:33475/e", source="Orphanet:33475"} xref: ICD9:036.0 {source="DOID:0080176", source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:1001040"} xref: MedDRA:10027249 {source="Orphanet:33475/e", source="Orphanet:33475"} xref: MedDRA:10027276 {source="EFO:1001040"} xref: MESH:D008585 {source="DOID:0080176", source="Orphanet:33475/e", source="MONDO:equivalentTo", source="EFO:1001040", source="Orphanet:33475"} xref: MeSH:D008585 xref: MONDO:0018059 xref: Orphanet:33475 {source="MONDO:equivalentTo"} xref: SCTID:192644005 {source="MONDO:equivalentTo", source="EFO:1001040"} xref: SNOMEDCT:192644005 xref: UMLS:C0025294 {source="Orphanet:33475/e", source="MONDO:equivalentTo", source="Orphanet:33475"} is_a: EFO:1000831 {source="DOID:0080176", source="MESH:D008585"} ! bacterial meningitis property_value: closeMatch http://identifiers.org/meddra/10027249 property_value: closeMatch http://identifiers.org/meddra/10027276 property_value: exactMatch DOID:0080176 property_value: exactMatch http://identifiers.org/mesh/D008585 property_value: exactMatch http://identifiers.org/snomedct/192644005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025294 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A39.0 property_value: exactMatch Orphanet:33475 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001041 name: mesenchymal chondrosarcoma def: "A morphologic variant of chondrosarcoma arising from bone and soft tissue. It is characterized by the presence of malignant small round cells, biphasic growth pattern, and well differentiated hyaline cartilage. Clinical presentation includes pain and swelling. The clinical course is aggressive, with local recurrences and distant metastases." [NCIT:C3737] synonym: "mesenchymal chondrosarcoma" EXACT [NCIT:C3737] synonym: "mesenchymal chondrosarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "mesenchymal chondrosarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: DOID:4545 {source="EFO:1001041", source="MONDO:equivalentTo"} xref: EFO:1001041 {source="MONDO:equivalentTo"} xref: ICDO:9240/3 {source="NCIT:C3737"} xref: MedDRA:10027389 {source="EFO:1001041"} xref: MESH:D018211 {source="EFO:1001041", source="DOID:4545", source="MONDO:equivalentTo"} xref: MONDO:0006853 xref: NCIT:C3737 {source="EFO:1001041", source="DOID:4545", source="MONDO:equivalentTo"} xref: ONCOTREE:MCHS {source="MONDO:equivalentTo"} xref: UMLS:C0206637 {source="NCIT:C3737", source="DOID:4545", source="MONDO:equivalentTo"} is_a: EFO:0000333 {source="DOID:4545", source="EFO:1001041", source="MESH:D018211", source="NCIT:C3737", source="ONCOTREE:MCHS"} ! chondrosarcoma is_a: EFO:1001184 {source="NCIT:C3737"} ! small cell sarcoma property_value: closeMatch http://identifiers.org/meddra/10027389 property_value: closeMatch http://identifiers.org/meddra/10027389 property_value: closeMatch http://identifiers.org/snomedct/56565002 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1708980 property_value: closeMatch NCIT:C53493 property_value: exactMatch DOID:4545 property_value: exactMatch DOID:4545 property_value: exactMatch http://identifiers.org/mesh/D018211 property_value: exactMatch http://identifiers.org/mesh/D018211 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206637 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206637 property_value: exactMatch NCIT:C3737 property_value: exactMatch NCIT:C3737 [Term] id: EFO:1001042 name: mesenchymoma def: "A term describing a soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation." [NCIT:C3233] synonym: "mesenchymoma" EXACT [NCIT:C3233] synonym: "mesenchymoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "mesenchymoma" EXACT [] {comment="preferred label from MONDO"} xref: DOID:2668 {source="EFO:1001042", source="MONDO:equivalentTo"} xref: EFO:1001042 {source="MONDO:equivalentTo"} xref: ICDO:8990/1 {source="NCIT:C3233"} xref: MESH:D008637 {source="EFO:1001042", source="MONDO:equivalentTo", source="DOID:2668"} xref: MONDO:0006854 xref: NCIT:C3233 {source="EFO:1001042", source="MONDO:equivalentTo", source="DOID:2668"} xref: UMLS:C0025464 {source="MONDO:equivalentTo", source="NCIT:C3233", source="DOID:2668"} is_a: EFO:0000616 {source="DOID:2668/inferred", source="EFO:1001042/inferred", source="MESH:D008637/inferred", source="NCIT:C3233/inferred"} ! neoplasm property_value: closeMatch http://identifiers.org/snomedct/189809007 property_value: closeMatch http://identifiers.org/snomedct/44524009 property_value: exactMatch DOID:2668 property_value: exactMatch DOID:2668 property_value: exactMatch http://identifiers.org/mesh/D008637 property_value: exactMatch http://identifiers.org/mesh/D008637 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025464 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025464 property_value: exactMatch NCIT:C3233 property_value: exactMatch NCIT:C3233 [Term] id: EFO:1001043 name: mesenteric vascular occlusion def: "Obstruction of the flow in the SPLANCHNIC CIRCULATION by ATHEROSCLEROSIS; EMBOLISM; THROMBOSIS; STENOSIS; TRAUMA; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as PERIARTERITIS NODOSA and THROMBOANGIITIS OBLITERANS. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6)" [] def: "Obstruction of the flow in the splanchnic circulation by atherosclerosis; embolism; thrombosis; stenosis; trauma; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as periarteritis nodosa and thromboangiitis obliterans. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6)" [MESH:D008641] synonym: "Mesenteric Vascular Occlusion" EXACT [] synonym: "mesenteric vascular occlusion" EXACT [] {comment="preferred label from MONDO"} xref: DOID:13252 {source="EFO:1001043", source="MONDO:equivalentTo"} xref: MedDRA:10074583 {source="EFO:1001043"} xref: MESH:D008641 {source="EFO:1001043", source="MONDO:equivalentTo", source="DOID:13252"} xref: MeSH:D008641 xref: MONDO:0006855 xref: UMLS:C0025472 {source="MONDO:equivalentTo", source="DOID:13252"} is_a: EFO:0003875 {source="DOID:13252", source="EFO:1001043"} ! peripheral vascular disease property_value: closeMatch http://identifiers.org/meddra/10074583 property_value: exactMatch DOID:13252 property_value: exactMatch http://identifiers.org/mesh/D008641 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025472 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001044 name: mesothelial neoplasm def: "A benign or malignant neoplasm arising from mesothelial cells. Mesothelial cells are the lining cells of the pleura and peritoneum. -- 2003" [NCIT:C3786] synonym: "mesothelial neoplasm" EXACT [NCIT:C3786] synonym: "mesothelial neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "mesothelial neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "mesothelial tumor" EXACT [NCIT:C3786] synonym: "mesothelial tumour" EXACT OMO:0003005 [] xref: EFO:1001044 {source="MONDO:equivalentTo"} xref: ICD10CM:C45-C49 {source="MONDO:relatedTo", source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: MESH:D018301 {source="EFO:1001044", source="MONDO:equivalentTo"} xref: MONDO:0006856 xref: NCIT:C3786 {source="EFO:1001044", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C3786 {source="EFO:1001044", source="MONDO:equivalentTo", source="exact-label-match"} xref: UMLS:C3714739 {source="MONDO:equivalentTo", source="NCIT:C3786"} is_a: EFO:0000616 {source="EFO:1001044", source="MESH:D018301/inferred", source="NCIT:C3786/inferred"} ! neoplasm relationship: EFO:0000784 CL:0000222 ! has_disease_location mesodermal cell property_value: closeMatch DOID:159 property_value: closeMatch http://identifiers.org/snomedct/115232000 property_value: exactMatch http://identifiers.org/mesh/D018301 property_value: exactMatch http://identifiers.org/mesh/D018301 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3714739 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3714739 property_value: exactMatch NCIT:C3786 property_value: exactMatch NCIT:C3786 property_value: relatedMatch http://purl.bioontology.org/ontology/ICD10CM/C45-C49 [Term] id: EFO:1001045 name: middle cerebral artery infarction def: "NECROSIS occurring in the MIDDLE CEREBRAL ARTERY distribution system which brings blood to the entire lateral aspects of each CEREBRAL HEMISPHERE. Clinical signs include impaired cognition; APHASIA; AGRAPHIA; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction." [] def: "Necrosis occurring in the middle cerebral artery distribution system which brings blood to the entire lateral aspects of each cerebral hemisphere. Clinical signs include impaired cognition; aphasia; agraphia; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction." [MESH:D020244] synonym: "Infarction, Middle Cerebral Artery" EXACT [] synonym: "middle cerebral artery infarction" EXACT [] {comment="preferred label from MONDO"} xref: DOID:3525 {source="EFO:1001045", source="MONDO:equivalentTo"} xref: MESH:D020244 {source="EFO:1001045", source="MONDO:equivalentTo", source="DOID:3525"} xref: MeSH:D020244 xref: MONDO:0006857 xref: UMLS:C0740392 {source="MONDO:equivalentTo", source="DOID:3525"} is_a: EFO:1000859 {source="DOID:3525", source="EFO:1001045", source="MESH:D020244"} ! cerebral arterial disease is_a: MONDO:0002679 {source="DOID:3525", source="MESH:D020244"} ! cerebral infarction property_value: exactMatch DOID:3525 property_value: exactMatch http://identifiers.org/mesh/D020244 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0740392 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001046 name: obsolete_Mobius syndrome def: "A syndrome of congenital facial paralysis, frequently associated with abducens palsy and other congenital abnormalities including lingual palsy, clubfeet, brachial disorders, cognitive deficits, and pectoral muscle defects. Pathologic findings are variable and include brain stem nuclear aplasia, facial nerve aplasia, and facial muscle aplasia, consistent with a multifactorial etiology. (Adams et al., Principles of Neurology, 6th ed, p1020)" [] synonym: "Mobius Syndrome" EXACT [] synonym: "Moebius congenital oculofacial paralysis" EXACT [] synonym: "Oromandibular-limb hypogenesis spectrum (disorder)" EXACT [] xref: DOID:13501 xref: MedDRA:10027789 xref: MeSH:D020331 xref: NCIt:C84893 xref: OMIM:157900 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.98" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication\nUse http://www.orpha.net/ORDO/Orphanet_570\nLabel: Moebius syndrome" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_570 [Term] id: EFO:1001047 name: mouth disease def: "A disease involving the mouth." [https://orcid.org/0000-0002-6601-2165] def: "Any disease of the oral cavity" [] subset: rare_grouping synonym: "disease of mouth" EXACT [MONDO:patterns/location_top] synonym: "disease of the mouth" EXACT [] synonym: "disease or disorder of mouth" EXACT [] synonym: "disorder of mouth" EXACT [MONDO:patterns/location_top] synonym: "mouth disease" EXACT [MONDO:patterns/location] synonym: "mouth disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "mouth disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "oral cavity disease" EXACT [] synonym: "oral cavity disorder" EXACT [] synonym: "oral disease" EXACT [NCIT:C3240] synonym: "oral disorder" EXACT [NCIT:C3240] xref: DOID:403 {source="MONDO:equivalentTo", source="EFO:1001047"} xref: ICD10:K13 xref: ICD10:K14 xref: ICD9:528.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D009059 {source="DOID:403", source="MONDO:equivalentTo", source="EFO:1001047"} xref: MeSH:D009059 xref: MONDO:0006858 xref: NCIT:C3240 {source="DOID:403", source="MONDO:equivalentTo"} xref: SCTID:118938008 {source="DOID:403", source="MONDO:equivalentTo", source="EFO:1001047"} xref: SNOMEDCT:118938008 xref: UMLS:C0026636 {source="DOID:403", source="MONDO:equivalentTo"} is_a: EFO:0000405 ! digestive system disease intersection_of: EFO:0000408 ! disease intersection_of: EFO:0000784 UBERON:0000165 ! has_disease_location mouth property_value: exactMatch DOID:403 property_value: exactMatch http://identifiers.org/mesh/D009059 property_value: exactMatch http://identifiers.org/snomedct/118938008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026636 property_value: exactMatch NCIT:C3240 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4968 xsd:anyURI [Term] id: EFO:1001048 name: mucinous cystadenoma def: "A benign or low malignant potential cystic epithelial neoplasm composed of cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung." [NCIT:C2973] synonym: "adenoma, mucinous, benign" EXACT [NCIT:C2973] synonym: "mucinous adenoma" EXACT [NCIT:C2973] synonym: "mucinous cystadenoma" EXACT [NCIT:C2973] synonym: "mucinous cystadenoma" EXACT [] {comment="preferred label from MONDO"} synonym: "mucinous cystadenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "mucinous cystoma" EXACT [NCIT:C2973] synonym: "pseudomucinous cystadenoma" EXACT [NCIT:C2973] xref: EFO:1001048 {source="MONDO:equivalentTo"} xref: ICDO:8470/0 {source="NCIT:C2973"} xref: ICDO:8480/0 {source="NCIT:C2973"} xref: MESH:D018291 {source="EFO:1001048", source="MONDO:equivalentTo"} xref: MONDO:0006859 xref: NCIT:C2973 {source="EFO:1001048", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C2973 {source="EFO:1001048", source="MONDO:equivalentTo", source="exact-label-match"} xref: UMLS:C0010635 {source="MONDO:equivalentTo", source="NCIT:C2973"} is_a: MONDO:0002369 {source="MESH:D018291", source="MONDO:Redundant", source="NCIT:C2973"} ! cystadenoma is_a: MONDO:0024338 {source="MONDO:Redundant", source="NCIT:C2973"} ! mucinous neoplasm intersection_of: MONDO:0002369 {source="NCIT:C2973"} ! cystadenoma intersection_of: MONDO:0024338 {source="NCIT:C2973"} ! mucinous neoplasm property_value: closeMatch DOID:2633 property_value: closeMatch http://identifiers.org/snomedct/67182003 property_value: exactMatch http://identifiers.org/mesh/D018291 property_value: exactMatch http://identifiers.org/mesh/D018291 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010635 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010635 property_value: exactMatch NCIT:C2973 property_value: exactMatch NCIT:C2973 [Term] id: EFO:1001049 name: obsolete_mucoepidermoid tumor def: "A malignant epithelial tumor of glandular tissue, especially the salivary glands, characterized by acini with mucus-producing cells and by the presence of malignant squamous elements. Most mucoepidermoid tumors are low-grade lesions readily cured by adequate excision. They may appear in any age group. They grow slowly. If high-grade, they behave aggressively, widely infiltrating the salivary gland and producing lymph node and distant metastases. (Dorland, 27th ed; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575)" [] synonym: "Mucoepidermoid neoplasm (morphologic abnormality)" EXACT [] synonym: "Mucoepidermoid neoplasm (morphology)" EXACT [] synonym: "Mucoepidermoid neoplasm NOS (morphologic abnormality)" EXACT [] synonym: "Mucoepidermoid Tumor" EXACT [] synonym: "Mucoepidermoid tumor [obs]" EXACT [] xref: DOID:163 xref: MeSH:D018298 xref: SNOMEDCT:39892006 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.22.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replaced by MONDO:0003036 'mucoepidermoid carcinoma'." xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/MONDO_0003036 [Term] id: EFO:1001050 name: multiple system atrophy def: "A progressive neurodegenerative condition of the central and autonomic nervous systems characterized by atrophy of the preganglionic lateral horn neurons of the thoracic spinal cord. This disease is generally considered a clinical variant of MULTIPLE SYSTEM ATROPHY. Affected individuals present in the fifth or sixth decade with ORTHOSTASIS and bladder dysfunction; and later develop FECAL INCONTINENCE; anhidrosis; ATAXIA; IMPOTENCE; and alterations of tone suggestive of basal ganglia dysfunction. (From Adams et al., Principles of Neurology, 6th ed, p536)" [] def: "Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years." [Orphanet:102] subset: ordo_disease {source="Orphanet:102"} synonym: "autonomic failure, Pure" RELATED [OMIM:146500] synonym: "hypotension, orthostatic" RELATED [OMIM:146500] synonym: "MSA" EXACT ABBREVIATION [Orphanet:102] synonym: "multiple system atrophy" EXACT [] {comment="preferred label from MONDO"} synonym: "Multiple system atrophy (disorder)" EXACT [] synonym: "multisystem atrophy" EXACT [Orphanet:102] synonym: "orthostatic hypotension syndrome" EXACT [] synonym: "Shy-Drager Syndrome" EXACT [] synonym: "Shy-Drager syndrome" EXACT [DOID:4752] synonym: "Shy-dragger syndrome (formerly)" RELATED [GARD:0007079] synonym: "Shy-McGee-Drager syndrome" EXACT [] synonym: "susceptibility to multiple system atrophy 1" RELATED [OMIM:146500] xref: DOID:4752 {source="MONDO:equivalentTo"} xref: MedDRA:10064060 {source="Orphanet:102/e", source="Orphanet:102"} xref: MeSH:D012791 xref: MESH:D019578 {source="DOID:4752", source="Orphanet:102/e", source="MONDO:equivalentTo", source="Orphanet:102"} xref: MeSH:D019578 xref: MONDO:0007803 xref: NCIT:C84909 {source="DOID:4752", source="MONDO:equivalentTo"} xref: NCIt:C84909 xref: Orphanet:102 {source="MONDO:equivalentTo", source="OMIM:146500"} xref: SNOMEDCT:230297002 xref: UMLS:C0037019 {source="DOID:4752", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C0393571 {source="DOID:4752", source="Orphanet:102/e", source="MONDO:equivalentTo", source="NCIT:C84909", source="Orphanet:102"} is_a: DOID:0050890 {source="DOID:4752", source="PMID:24262191"} ! synucleinopathy is_a: EFO:0004280 ! movement disorder is_a: EFO:1000096 ! Atrophy relationship: disease_arises_from_feature EFO:0005772 ! neurodegenerative disease relationship: has_characteristic MONDO:0021136 ! rare property_value: closeMatch http://identifiers.org/meddra/10064060 property_value: exactMatch DOID:4752 property_value: exactMatch http://identifiers.org/mesh/D019578 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037019 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393571 property_value: exactMatch NCIT:C84909 property_value: exactMatch Orphanet:102 property_value: excluded_subClassOf MONDO:0015914 {source="Orphanet:102"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Gautier Koscielny" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001051 name: mycosis fungoides def: "Classical mycosis fungoides is the most common type of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by slow progression from patches to more infiltrated plaques and eventually to tumors." [Orphanet:2584] subset: gard_rare {source="GARD:0003863"} subset: ordo_disease {source="Orphanet:2584"} synonym: "Alibert-Bazin syndrome" RELATED [GARD:0003863] synonym: "classic mycosis fungoides" RELATED [Orphanet:2584] synonym: "CTCL/ mycosis fungoides" EXACT [NCIT:C3246] synonym: "cutaneous T-cell lymphoma/mycosis fungoides" EXACT [NCIT:C3246] synonym: "granuloma fungoides" RELATED [GARD:0003863] synonym: "MF" EXACT ABBREVIATION [DOID:8691, NCIT:C3246] synonym: "mycosis fungoides" EXACT [] {comment="preferred label from MONDO"} synonym: "mycosis fungoides" EXACT [DOID:8691, MTH:U002093, OMIM:254400] synonym: "mycosis fungoides" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "mycosis fungoides (morphologic abnormality)" EXACT [DOID:8691] synonym: "mycosis fungoides lymphoma" EXACT [DOID:8691] synonym: "mycosis fungoides lymphoma" EXACT [CSP2005:2004-7126, DOID:8691] synonym: "mycosis fungoides NOS (morphologic abnormality)" EXACT [DOID:8691] synonym: "mycosis fungoides of unspecified site" EXACT [DOID:8691] synonym: "mycosis fungoides, Alibert-Bazin type" EXACT [Orphanet:2584] synonym: "mycosis fungoides, unspecified site, extranodal and solid organ sites" EXACT [DOID:8691] xref: COHD:4040380 {source="MONDO:equivalentTo"} xref: DOID:8691 {source="MONDO:equivalentTo", source="EFO:1001051"} xref: EFO:1001051 {source="MONDO:equivalentTo"} xref: GARD:0003863 {source="MONDO:equivalentTo"} xref: ICD10:C84.0 {source="Orphanet:2584", source="MONDO:equivalentTo", source="DOID:8691", source="ORDO:2584/ntbt"} xref: ICD10:C84.00 {source="DOID:8691"} xref: ICD10CM:C84.0 {source="Orphanet:2584", source="Orphanet:2584/ntbt", source="MONDO:equivalentTo", source="DOID:8691"} xref: ICD9:202.1 {source="DOID:8691", source="EFO:1001051"} xref: ICDO:9700/3 {source="NCIT:C3246"} xref: MedDRA:10028483 {source="EFO:1001051"} xref: MESH:D009182 {source="MONDO:equivalentTo", source="DOID:8691", source="EFO:1001051"} xref: MONDO:0009691 xref: NCIT:C3246 {source="MONDO:equivalentTo", source="DOID:8691", source="exact-label-match", source="EFO:1001051"} xref: NCIT:C3246 {source="MONDO:equivalentTo", source="DOID:8691", source="MONDO:exact-label-match", source="EFO:1001051"} xref: OMIM:254400 {source="Orphanet:2584", source="ORDO:2584/e", source="MONDO:equivalentTo", source="DOID:8691"} xref: OMIM:254400 {source="Orphanet:2584", source="MONDO:equivalentTo", source="Orphanet:2584/e", source="DOID:8691"} xref: ONCOTREE:MYCF {source="MONDO:equivalentTo"} xref: Orphanet:2584 {source="MONDO:equivalentTo", source="OMIM:254400"} xref: SCTID:118618005 {source="MONDO:equivalentTo", source="DOID:8691"} xref: UMLS:C0026948 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:8691", source="NCIT:C3246", source="OMIM:254400"} xref: UMLS:C0026948 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:8691", source="NCIT:C3246", source="OMIM:254400"} is_a: EFO:0002913 {source="DOID:8691", source="EFO:1001051", source="MESH:D009182", source="NCIT:C3246"} ! Cutaneous T-cell lymphoma is_a: MONDO:0015821 {source="Orphanet:2584"} ! mycosis fungoides and variants property_value: closeMatch http://identifiers.org/meddra/10028483 property_value: closeMatch http://identifiers.org/meddra/10028483 property_value: closeMatch http://identifiers.org/snomedct/188618003 property_value: closeMatch http://identifiers.org/snomedct/188628007 property_value: closeMatch http://identifiers.org/snomedct/190003004 property_value: closeMatch http://identifiers.org/snomedct/190004005 property_value: closeMatch http://identifiers.org/snomedct/90120004 property_value: exactMatch DOID:8691 property_value: exactMatch DOID:8691 property_value: exactMatch http://identifiers.org/mesh/D009182 property_value: exactMatch http://identifiers.org/mesh/D009182 property_value: exactMatch http://identifiers.org/omim/254400 property_value: exactMatch http://identifiers.org/snomedct/118618005 property_value: exactMatch http://identifiers.org/snomedct/118618005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026948 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026948 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/C84.0 property_value: exactMatch https://omim.org/entry/254400 property_value: exactMatch NCIT:C3246 property_value: exactMatch NCIT:C3246 property_value: exactMatch Orphanet:2584 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3863/mycosis-fungoides xsd:anyURI {source="GARD:0003863"} [Term] id: EFO:1001052 name: myeloid sarcoma def: "A tumor mass composed of myeloblasts or immature myeloid cells. It occurs in extramedullary sites or the bone. (WHO, 2001)" [NCIT:P378] subset: ordo_disease {source="Orphanet:86850"} synonym: "chloroma" EXACT [DOID:8683, MTHICD9_2006:205.3, NCIT:C3520, Orphanet:86850] synonym: "chloroma" EXACT [DOID:8683, NCIT:C3520, Orphanet:86850] synonym: "extramedullary myeloid tumor" EXACT [DOID:8683, NCIT:C3520, Orphanet:86850] synonym: "extramedullary myeloid tumour" EXACT OMO:0003005 [] synonym: "granulocytic sarcoma" EXACT [DOID:8683, NCIT:C35815, Orphanet:86850] synonym: "granulocytic sarcoma" RELATED [DOID:8683, NCIT:C35815, Orphanet:86850] synonym: "MS" RELATED ABBREVIATION [ONCOTREE:MS] synonym: "myeloid sarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "myeloid sarcoma" EXACT [MONDO:0019459, NCIT:C3520] synonym: "myeloid sarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "sarcoma, myeloid, malignant" EXACT [NCIT:C3520] xref: COHD:140967 {source="MONDO:equivalentTo"} xref: DOID:8683 {source="EFO:1001052", source="MONDO:equivalentTo"} xref: EFO:1001052 {source="MONDO:equivalentTo"} xref: GARD:0012763 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10:C92.3 {source="Orphanet:86850", source="EFO:1001052", source="MONDO:equivalentTo", source="ORDO:86850/ntbt", source="DOID:8683"} xref: ICD10:C92.30 {source="DOID:8683"} xref: ICD10CM:C92.3 {source="Orphanet:86850", source="EFO:1001052", source="Orphanet:86850/ntbt", source="MONDO:equivalentTo", source="DOID:8683"} xref: ICD9:205.3 {source="EFO:1001052", source="DOID:8683"} xref: ICDO:9930/3 {source="NCIT:C3520"} xref: MedDRA:10028562 {source="EFO:1001052"} xref: MESH:D023981 {source="Orphanet:86850", source="EFO:1001052", source="MONDO:equivalentTo", source="DOID:8683", source="ORDO:86850/e"} xref: MESH:D023981 {source="Orphanet:86850", source="EFO:1001052", source="MONDO:equivalentTo", source="Orphanet:86850/e", source="DOID:8683"} xref: MONDO:0006861 xref: NCIT:C3520 {source="EFO:1001052", source="MONDO:equivalentTo", source="DOID:8683"} xref: ONCOTREE:MS {source="MONDO:equivalentTo"} xref: Orphanet:86850 {source="MONDO:equivalentTo"} is_a: EFO:0000691 {source="EFO:1001052", source="MESH:D023981"} ! sarcoma is_a: MONDO:0015667 {source="Orphanet:86850"} ! acute myeloid leukemia by FAB classification relationship: EFO:0000784 CL:0000763 ! has_disease_location myeloid cell property_value: closeMatch http://identifiers.org/meddra/10028562 property_value: closeMatch http://identifiers.org/meddra/10028562 property_value: closeMatch http://identifiers.org/snomedct/188737002 property_value: closeMatch http://identifiers.org/snomedct/188738007 property_value: closeMatch http://identifiers.org/snomedct/188739004 property_value: closeMatch http://identifiers.org/snomedct/35287006 property_value: closeMatch http://identifiers.org/snomedct/94719007 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152276 property_value: exactMatch DOID:8683 property_value: exactMatch DOID:8683 property_value: exactMatch http://identifiers.org/mesh/D023981 property_value: exactMatch http://identifiers.org/mesh/D023981 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/C92.3 property_value: exactMatch NCIT:C3520 property_value: exactMatch NCIT:C3520 property_value: exactMatch Orphanet:86850 [Term] id: EFO:1001053 name: myoclonic cerebellar dyssynergia def: "A condition marked by progressive CEREBELLAR ATAXIA combined with MYOCLONUS usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal SEIZURES, spasticity, and DYSKINESIAS. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the CEREBELLUM are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)" [] def: "A condition marked by progressive cerebellar ataxia combined with myoclonus usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal seizures, spasticity, and dyskinesias. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the cerebellum are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)" [MESH:D002527] subset: speculative synonym: "cerebelloparenchymal disorder 5" RELATED [OMIM:213400] synonym: "cerebelloparenchymal disorder type 5" EXACT [MONDORULE:1, OMIM:213400] synonym: "cerebelloparenchymal disorder V" RELATED [MONDO:Lexical, OMIM:213400] synonym: "CPD5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:213400] synonym: "dentate cerebellar ataxia" RELATED [GARD:0009256] synonym: "dentatorubral atrophy" RELATED [GARD:0009256] synonym: "Dyssynergia cerebellaris myoclonica" EXACT [] synonym: "dyssynergia cerebellaris myoclonica" EXACT [DOID:12707, https://www.ninds.nih.gov/Disorders/All-Disorders/Ramsay-Hunt-Syndrome-I-Information-Page] synonym: "dyssynergia cerebellaris myoclonica of Hunt" RELATED [OMIM:213400] synonym: "dyssynergia cerebellaris progressiva" RELATED [GARD:0009256] synonym: "Myoclonic Cerebellar Dyssynergia" EXACT [] synonym: "myoclonic cerebellar dyssynergia" EXACT [] {comment="preferred label from MONDO"} synonym: "myoclonus and ataxia" EXACT [OMIM:159700] synonym: "primary dentatum atrophy" RELATED [GARD:0009256] synonym: "progressive cerebellar tremor" EXACT [DOID:12707] synonym: "progressive myoclonus ataxia" RELATED [GARD:0009256] synonym: "Ramsay Hunt cerebellar syndrome" RELATED [Wikipedia:Ramsay_Hunt_syndrome_type_1] synonym: "Ramsay Hunt syndrome" RELATED DEPRECATED [OMIM:159700, Wikipedia:Ramsay_Hunt_syndrome] synonym: "Ramsay Hunt syndrome type 1" RELATED DEPRECATED [OMIM:159700, Wikipedia:Ramsay_Hunt_syndrome] synonym: "Ramsay Hunt syndrome type 1 (formerly)" RELATED [GARD:0009256] synonym: "Spinodentate atrophy" RELATED [OMIM:213400] xref: DOID:12707 {source="EFO:1001053", source="MONDO:equivalentTo"} xref: MESH:D002527 {source="EFO:1001053", source="MONDO:equivalentTo", source="DOID:12707"} xref: MeSH:D002527 xref: MONDO:0008945 xref: OMIM:159700 {source="MONDO:equivalentObsolete"} xref: OMIM:213400 {source="MONDO:equivalentTo", source="DOID:12707"} xref: SCTID:73495003 {source="MONDO:equivalentTo", source="DOID:12707"} xref: UMLS:C0007761 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:12707"} xref: UMLS:C1834580 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:159700"} is_a: MONDO:0000114 {source="DC-OMIM:213400"} ! cerebelloparenchymal disorder is_a: MONDO:0024237 {source="MESH:D002527/inferred"} ! inherited neurodegenerative disorder relationship: disease_shares_features_of EFO:1001053 ! myoclonic cerebellar dyssynergia property_value: exactMatch DOID:12707 property_value: exactMatch http://identifiers.org/mesh/D002527 property_value: exactMatch http://identifiers.org/snomedct/73495003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007761 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834580 property_value: exactMatch https://omim.org/entry/213400 property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4429 xsd:anyURI [Term] id: EFO:1001054 name: myofascial pain syndrome def: "Muscular pain in numerous body regions that can be reproduced by pressure on TRIGGER POINTS, localized hardenings in skeletal muscle tissue. Pain is referred to a location distant from the trigger points. A prime example is the TEMPOROMANDIBULAR JOINT DYSFUNCTION SYNDROME." [] def: "Muscular pain in numerous body regions that can be reproduced by pressure on trigger points, localized hardenings in skeletal muscle tissue. Pain is referred to a location distant from the trigger points. A prime example is the temporomandibular joint dysfunction syndrome." [MESH:D009209] synonym: "myofascial pain syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Myofascial Pain Syndromes" EXACT [] xref: DOID:431 {source="EFO:1001054", source="MONDO:equivalentTo"} xref: ICD9:729.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10048780 {source="EFO:1001054"} xref: MESH:D009209 {source="EFO:1001054", source="MONDO:equivalentTo", source="DOID:431"} xref: MeSH:D009209 xref: MONDO:0006862 xref: SCTID:24693007 {source="EFO:1001054", source="MONDO:equivalentTo"} xref: SNOMEDCT:24693007 xref: UMLS:C0027073 {source="MONDO:equivalentTo", source="DOID:431"} is_a: EFO:0004145 {source="DOID:431", source="EFO:1001054"} ! myopathy property_value: closeMatch http://identifiers.org/meddra/10048780 property_value: exactMatch DOID:431 property_value: exactMatch http://identifiers.org/mesh/D009209 property_value: exactMatch http://identifiers.org/snomedct/24693007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027073 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001055 name: myxedema def: "A condition characterized by a dry, waxy type of swelling (EDEMA) with abnormal deposits of MUCOPOLYSACCHARIDES in the SKIN and other tissues. It is caused by a deficiency of THYROID HORMONES. The skin becomes puffy around the eyes and on the cheeks. The face is dull and expressionless with thickened nose and lips." [] def: "A condition characterized by severe hypothyroidism that is caused by autoimmune thyroid gland disorders, surgical reduction of thyroid tissue, radiation exposure, and viral infections. Signs and symptoms include generalized fatigue, lethargy, increased body weight, pale, edematous and thickened skin, low blood pressure, constipation and cold intolerance." [NCIT:C34834] comment: Editor note: myxedema can also refer to a dermatological change that can occur in hypothyroidism and some forms of hyperthyroidism. synonym: "MYXEDEMA" EXACT [] synonym: "Myxedema" EXACT [] synonym: "myxedema" EXACT [OMIM:255900] synonym: "myxedema" EXACT [] {comment="preferred label from MONDO"} synonym: "Myxedema (disorder)" EXACT [] synonym: "Myxoedema" EXACT [] synonym: "myxoedema" EXACT [] xref: DOID:11634 {source="EFO:1001055", source="MONDO:equivalentTo"} xref: MedDRA:10028663 {source="EFO:1001055"} xref: MESH:D009230 {source="EFO:1001055", source="DOID:11634", source="MONDO:finding", source="MONDO:equivalentTo"} xref: MeSH:D009230 xref: MONDO:0009718 xref: NCIT:C34834 {source="EFO:1001055", source="DOID:11634", source="MONDO:equivalentTo"} xref: NCIt:C34834 xref: OMIM:255900 {source="EFO:1001055", source="DOID:11634", source="MONDO:equivalentTo"} xref: SCTID:43153006 {source="EFO:1001055", source="DOID:11634", source="MONDO:equivalentTo"} xref: SNOMEDCT:43153006 xref: UMLS:C0027145 {source="DOID:11634", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C34834", source="OMIM:255900"} is_a: EFO:0004705 {source="DOID:11634", source="EFO:1001055", source="MESH:D009230", source="NCIT:C34834"} ! hypothyroidism property_value: closeMatch http://identifiers.org/meddra/10028663 property_value: exactMatch DOID:11634 property_value: exactMatch http://identifiers.org/mesh/D009230 property_value: exactMatch http://identifiers.org/snomedct/43153006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027145 property_value: exactMatch https://omim.org/entry/255900 property_value: exactMatch NCIT:C34834 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001056 name: myxosarcoma def: "An infiltrating malignant soft tissue neoplasm characterized by the presence of immature undifferentiated cells and abundant myxoid stroma formation." [NCIT:C3255] synonym: "myxosarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "myxosarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "myxosarcoma" EXACT [NCIT:C3255] synonym: "myxosarcoma (morphologic abnormality)" EXACT [DOID:4136] synonym: "myxosarcoma, malignant" EXACT [NCIT:C3255] xref: DOID:4136 {source="EFO:1001056", source="MONDO:equivalentTo"} xref: EFO:1001056 {source="MONDO:equivalentTo"} xref: ICDO:8840/3 {source="NCIT:C3255"} xref: MESH:D009236 {source="DOID:4136", source="EFO:1001056", source="MONDO:equivalentTo"} xref: MONDO:0006863 xref: NCIT:C3255 {source="DOID:4136", source="EFO:1001056", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C3255 {source="DOID:4136", source="EFO:1001056", source="MONDO:equivalentTo", source="exact-label-match"} xref: UMLS:C0027155 {source="DOID:4136", source="MONDO:equivalentTo", source="NCIT:C3255"} is_a: EFO:1001968 {source="NCIT:C3255"} ! soft tissue sarcoma is_a: EFO:1001986 ! connective tissue disease property_value: closeMatch http://identifiers.org/snomedct/28351005 property_value: exactMatch DOID:4136 property_value: exactMatch DOID:4136 property_value: exactMatch http://identifiers.org/mesh/D009236 property_value: exactMatch http://identifiers.org/mesh/D009236 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027155 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027155 property_value: exactMatch NCIT:C3255 property_value: exactMatch NCIT:C3255 property_value: excluded_subClassOf MONDO:0002176 {source="DOID:4136"} [Term] id: EFO:1001057 name: necrotizing sialometaplasia def: "A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma." [MESH:D012797] synonym: "necrotizing sialometaplasia" EXACT [] {comment="preferred label from MONDO"} synonym: "Necrotizing sialometaplasia (disorder)" EXACT [] synonym: "Sialometaplasia, Necrotizing" EXACT [] xref: DOID:12901 {source="EFO:1001057", source="MONDO:equivalentTo"} xref: ICD9:527.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10072176 {source="EFO:1001057"} xref: MESH:D012797 {source="EFO:1001057", source="DOID:12901", source="MONDO:equivalentTo"} xref: MeSH:D012797 xref: MONDO:0006864 xref: SCTID:109769000 {source="EFO:1001057", source="DOID:12901", source="MONDO:equivalentTo"} xref: SNOMEDCT:109769000 xref: UMLS:C0037033 {source="DOID:12901", source="MONDO:equivalentTo"} is_a: EFO:0008581 {source="DOID:12901", source="MESH:D012797"} ! salivary gland disease property_value: closeMatch http://identifiers.org/meddra/10072176 property_value: exactMatch DOID:12901 property_value: exactMatch http://identifiers.org/mesh/D012797 property_value: exactMatch http://identifiers.org/snomedct/109769000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037033 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001058 name: necrotizing ulcerative gingivitis def: "A bacterial infectious process affecting the gums. It is characterized by the development of necrotic, ulcerated, and painful lesions with creation of pseudomembranes extending along the gingival margins." [NCIT:P378] def: "An acute or chronic GINGIVITIS characterized by redness and swelling, NECROSIS extending from the interdental papillae along the gingival margins, PAIN; HEMORRHAGE, necrotic odor, and often a pseudomembrane. The condition may extend to the ORAL MUCOSA; TONGUE; PALATE; or PHARYNX. The etiology is somewhat unclear, but may involve a complex of FUSOBACTERIUM NUCLEATUM along with spirochetes BORRELIA or TREPONEMA." [] subset: gard_rare synonym: "(Vincent's angina) or (trench mouth)" EXACT [] synonym: "acute membranous gingivitis" RELATED [GARD:0005736] synonym: "acute necrotising ulcerative gingivitis" EXACT [DOID:13924] synonym: "acute necrotising ulcerative gingivitis [Ambiguous]" EXACT [] synonym: "acute necrotising ulcerative gingivitis [ambiguous]" EXACT [DOID:13924] synonym: "acute necrotising ulcerative gingivostomatitis" EXACT [DOID:13924] synonym: "acute necrotising ulcerative gingivostomatitis [Ambiguous]" EXACT [] synonym: "acute necrotising ulcerative gingivostomatitis [ambiguous]" EXACT [DOID:13924] synonym: "acute necrotizing ulcerative gingivitis" EXACT [DOID:13924] synonym: "acute necrotizing ulcerative gingivostomatitis" EXACT [DOID:13924] synonym: "acute necrotizing ulcerative gingivostomatitis (disorder)" EXACT [] synonym: "acute ulceromembranous gingivitis" EXACT [DOID:13924] synonym: "Angina - Vincents" EXACT [] synonym: "angina - Vincents" EXACT [DOID:13924] synonym: "ANUG" EXACT ABBREVIATION [DOID:13924, GARD:0005736] synonym: "early acute necrotising gingivitis" EXACT [DOID:13924] synonym: "Fusospirillary gingivitis" RELATED [GARD:0005736] synonym: "Fusospirillosis" RELATED [GARD:0005736] synonym: "Gingivitis, Necrotizing Ulcerative" EXACT [] synonym: "necrotizing ulcerative gingivitis" EXACT [] {comment="preferred label from MONDO"} synonym: "phagedenic gingivitis" RELATED [GARD:0005736] synonym: "Trench mouth" EXACT [] synonym: "trench mouth" EXACT [DOID:13924] synonym: "Vincent angina" EXACT [DOID:13924] synonym: "Vincent's Angina" EXACT [] synonym: "Vincent's angina" EXACT [DOID:13924, ICD9CM:101, NCIT:C34637, SCTID:399050001] synonym: "Vincent's angina - pharyngitis" EXACT [DOID:13924] synonym: "Vincent's angina - pharyngitis (disorder)" EXACT [] synonym: "Vincent's angina NOS" EXACT [] synonym: "Vincent's disease" EXACT [DOID:13924] synonym: "Vincent's gingivitis" RELATED [GARD:0005736] synonym: "Vincent's infection" RELATED [GARD:0005736] synonym: "Vincent's infection, any site" EXACT [DOID:13924] synonym: "Vincent's stomatitis" RELATED [GARD:0005736] xref: DOID:13924 {source="MONDO:equivalentTo", source="EFO:1001058"} xref: ICD9:101 {source="DOID:13924", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D005892 {source="DOID:13924", source="MONDO:equivalentTo", source="EFO:1001058"} xref: MeSH:D005892 xref: MONDO:0006865 xref: NCIT:C34637 {source="DOID:13924", source="MONDO:equivalentTo", source="EFO:1001058"} xref: NCIt:C34637 xref: SCTID:186963008 {source="DOID:13924", source="MONDO:equivalentTo"} xref: SNOMEDCT:707792000 xref: UMLS:C0017575 {source="DOID:13924", source="MONDO:equivalentTo", source="GARD:0005736", source="NCIT:C34637"} is_a: MONDO:0002508 {source="DOID:13924", source="MESH:D005892", source="NCIT:C34637"} ! gingivitis property_value: exactMatch DOID:13924 property_value: exactMatch http://identifiers.org/mesh/D005892 property_value: exactMatch http://identifiers.org/snomedct/186963008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017575 property_value: exactMatch NCIT:C34637 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001059 name: neonatal myasthenia gravis def: "A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4)" [MESH:D020941] synonym: "Myasthenia Gravis, Neonatal" EXACT [] synonym: "Neonatal Myasthenia Gravis" EXACT [] synonym: "Neonatal myasthenia gravis" EXACT [] synonym: "neonatal myasthenia gravis" EXACT [DOID:14043, ICD9CM:775.2, MTH:NOCODE] synonym: "neonatal myasthenia gravis" EXACT [] {comment="preferred label from MONDO"} synonym: "Neonatal myasthenia gravis (disorder)" EXACT [] xref: DOID:14043 {source="EFO:1001059", source="MONDO:equivalentTo"} xref: ICD9:775.2 {source="DOID:14043", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10028963 {source="EFO:1001059"} xref: MESH:D020941 {source="DOID:14043", source="EFO:1001059", source="MONDO:equivalentTo"} xref: MeSH:D020941 xref: MONDO:0006866 xref: SCTID:82178003 {source="DOID:14043", source="EFO:1001059", source="MONDO:equivalentTo"} xref: SNOMEDCT:82178003 is_a: EFO:0004991 {source="DOID:14043", source="EFO:1001059", source="MESH:D020941"} ! Myasthenia gravis property_value: closeMatch http://identifiers.org/meddra/10028963 property_value: exactMatch DOID:14043 property_value: exactMatch http://identifiers.org/mesh/D020941 property_value: exactMatch http://identifiers.org/snomedct/82178003 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001060 name: neovascular glaucoma def: "A form of secondary glaucoma which develops as a consequence of another ocular disease and is attributed to the forming of new vessels in the angle of the anterior chamber." [] def: "Neovascular glaucoma is the most common type of secondary glaucoma, usually caused by diabetic retinopathy, central retinal vein occlusion and carotid artery obstruction but sometimes by trauma, uvietis or ocular tumors, and characterized by severe eye pain, synechial angle glaucoma, high intraocular pressure and leading to loss of vision." [Orphanet:94058] subset: ordo_clinical_situation {source="Orphanet:94058"} synonym: "Glaucoma, Neovascular" EXACT [] synonym: "Neovascular glaucoma" EXACT [] synonym: "neovascular glaucoma" EXACT [] {comment="preferred label from MONDO"} synonym: "Neovascular glaucoma (disorder)" EXACT [] synonym: "secondary angle-closure glaucoma with rubeosis" EXACT [DOID:1687] xref: DOID:1687 {source="MONDO:equivalentTo", source="EFO:1001060"} xref: MedDRA:10062891 {source="Orphanet:94058", source="Orphanet:94058/e", source="EFO:1001060"} xref: MESH:D015355 {source="Orphanet:94058", source="DOID:1687", source="MONDO:equivalentTo", source="Orphanet:94058/e", source="EFO:1001060"} xref: MeSH:D015355 xref: MONDO:0019783 xref: Orphanet:94058 {source="MONDO:equivalentTo"} xref: SCTID:232086000 {source="DOID:1687", source="MONDO:equivalentTo", source="EFO:1001060"} xref: SNOMEDCT:232086000 xref: UMLS:C0017609 {source="Orphanet:94058", source="DOID:1687", source="MONDO:equivalentTo", source="Orphanet:94058/e"} is_a: MONDO:0005041 {source="DOID:1687", source="EFO:1001060", source="MESH:D015355"} ! glaucoma relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120"} ! rare property_value: closeMatch http://identifiers.org/meddra/10062891 property_value: exactMatch DOID:1687 property_value: exactMatch http://identifiers.org/mesh/D015355 property_value: exactMatch http://identifiers.org/snomedct/232086000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017609 property_value: exactMatch Orphanet:94058 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001061 name: neurogenic bowel def: "Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body." [MESH:D055496] synonym: "Neurogenic Bowel" EXACT [] synonym: "neurogenic bowel" EXACT [] {comment="preferred label from MONDO"} xref: DOID:13419 {source="MONDO:equivalentTo", source="EFO:1001061"} xref: ICD10:K59.2 xref: ICD9:564.81 {source="DOID:13419", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10048657 {source="EFO:1001061"} xref: MESH:D055496 {source="DOID:13419", source="MONDO:equivalentTo", source="EFO:1001061"} xref: MeSH:D055496 xref: MONDO:0006868 xref: SCTID:425671009 {source="DOID:13419", source="MONDO:equivalentTo", source="EFO:1001061"} xref: SNOMEDCT:425671009 xref: UMLS:C0695242 {source="DOID:13419", source="MONDO:equivalentTo"} is_a: EFO:0009431 {source="DOID:13419", source="EFO:1001061", source="MESH:D055496/inferred"} ! intestinal disease property_value: closeMatch http://identifiers.org/meddra/10048657 property_value: exactMatch DOID:13419 property_value: exactMatch http://identifiers.org/mesh/D055496 property_value: exactMatch http://identifiers.org/snomedct/425671009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0695242 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001062 name: nodular goiter def: "An enlarged THYROID GLAND containing multiple nodules (THYROID NODULE), usually resulting from recurrent thyroid HYPERPLASIA and involution over many years to produce the irregular enlargement. Multinodular goiters may be nontoxic or may induce THYROTOXICOSIS." [] def: "Goiter characterized by discrete tissue mass(es) that may or may not produce thyroid hormones." [NCIT:C131437] synonym: "Goiter, Nodular" EXACT [] synonym: "Goiter, nodular" EXACT [] synonym: "goiter, nodular" EXACT [DOID:13197, MTH:494, MTH:733] synonym: "nodular goiter" EXACT [] {comment="preferred label from MONDO"} synonym: "nodular goiter" EXACT [DOID:13197, MONDO:ambiguous] synonym: "nodular goiter (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "nodular goiter NOS" EXACT [] synonym: "nodular goitre" EXACT [] synonym: "nodular goitre (disease)" EXACT OMO:0003005 [] synonym: "nodular goitre NOS" RELATED OMO:0003005 [] xref: DOID:13197 {source="MONDO:equivalentTo", source="EFO:1001062"} xref: HP:0005994 {source="MONDO:otherHierarchy"} xref: MedDRA:10018495 {source="EFO:1001062"} xref: MESH:D006044 {source="MONDO:equivalentTo", source="DOID:13197", source="EFO:1001062"} xref: MeSH:D006044 xref: MONDO:0006869 xref: NCIT:C131437 {source="MONDO:equivalentTo"} xref: SCTID:419153005 {source="MONDO:equivalentTo", source="DOID:13197", source="EFO:1001062"} xref: SNOMEDCT:419153005 xref: UMLS:C0018023 {source="NCIT:C131437", source="MONDO:equivalentTo", source="DOID:13197"} is_a: EFO:0004283 {source="DOID:13197", source="EFO:1001062", source="MESH:D006044", source="NCIT:C131437"} ! goiter property_value: closeMatch http://identifiers.org/meddra/10018495 property_value: exactMatch DOID:13197 property_value: exactMatch http://identifiers.org/mesh/D006044 property_value: exactMatch http://identifiers.org/snomedct/419153005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018023 property_value: exactMatch NCIT:C131437 property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000589 "nodular goiter (disease)" xsd:string [Term] id: EFO:1001063 name: noma def: "A severe gangrenous process occurring predominantly in debilitated and malnourished children, especially in underdeveloped countries. It typically begins as a small vesicle or ulcer on the gingiva that rapidly becomes necrotic and spreads to produce extensive destruction of the buccal and labial mucosa and tissues of the face, which may result in severe disfigurement and even death. Various bacteria have been implicated in the etiology. (Dorland, 27th ed)" [] def: "Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face." [Orphanet:2700] subset: gard_rare {source="GARD:0004001"} subset: ordo_disease {source="Orphanet:2700"} synonym: "Cancrum oris" EXACT [] synonym: "cancrum oris" EXACT [DOID:9672, ICD9CM:528.1, Orphanet:2700] synonym: "Gangrenous stomatitis" EXACT [] synonym: "gangrenous stomatitis" EXACT [DOID:9672] synonym: "Noma" EXACT [] synonym: "noma" EXACT [] {comment="preferred label from MONDO"} synonym: "noma neonatorum" RELATED [GARD:0004001] synonym: "oral gangrene" RELATED [GARD:0004001] synonym: "oro-facial gangrene" RELATED [GARD:0004001] synonym: "oro-facial noma" RELATED [GARD:0004001] xref: DOID:9672 {source="EFO:1001063", source="MONDO:equivalentTo"} xref: ICD9:528.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9672"} xref: MedDRA:10029502 {source="EFO:1001063", source="Orphanet:2700", source="Orphanet:2700/e"} xref: MESH:D009625 {source="EFO:1001063", source="MONDO:equivalentTo", source="Orphanet:2700", source="DOID:9672", source="Orphanet:2700/e"} xref: MeSH:D009625 xref: MONDO:0017124 xref: NCIT:C34852 {source="MONDO:equivalentTo", source="DOID:9672"} xref: Orphanet:2700 {source="MONDO:equivalentTo"} xref: SCTID:18116006 {source="MONDO:equivalentTo", source="DOID:9672"} xref: UMLS:C0028271 {source="MONDO:equivalentTo", source="Orphanet:2700", source="DOID:9672", source="NCIT:C34852", source="Orphanet:2700/e"} is_a: EFO:0000771 {source="Orphanet:2700"} ! bacterial disease is_a: EFO:0003938 ! aphthous ulcer is_a: MONDO:0004848 {source="DOID:9672", source="NCIT:C34852"} ! ulcerative stomatitis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare property_value: closeMatch http://identifiers.org/meddra/10029502 property_value: exactMatch DOID:9672 property_value: exactMatch http://identifiers.org/mesh/D009625 property_value: exactMatch http://identifiers.org/snomedct/18116006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0028271 property_value: exactMatch NCIT:C34852 property_value: exactMatch Orphanet:2700 property_value: excluded_subClassOf MONDO:0005318 {source="EFO:1001063"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4001/noma xsd:anyURI {source="GARD:0004001"} [Term] id: EFO:1001064 name: non-gestational choriocarcinoma def: "A highly malignant choriocarcinoma derived from the non-placental origin such as the totipotent cells in the testis, the ovary, and the pineal gland. It produces high levels of chorionic gonadotropin and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis." [MESH:D031954] synonym: "non-gestational choriocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "non-gestational choriocarcinoma" EXACT [] {comment="preferred label from MONDO"} xref: DOID:4320 {source="EFO:1001064", source="MONDO:equivalentTo"} xref: EFO:1001064 {source="MONDO:equivalentTo"} xref: MESH:D031954 {source="EFO:1001064", source="DOID:4320", source="MONDO:equivalentTo"} xref: MONDO:0006871 xref: UMLS:C1135873 {source="DOID:4320", source="MONDO:equivalentTo"} is_a: EFO:0002893 {source="DOID:4320", source="EFO:1001064", source="MESH:D031954"} ! choriocarcinoma property_value: exactMatch DOID:4320 property_value: exactMatch DOID:4320 property_value: exactMatch http://identifiers.org/mesh/D031954 property_value: exactMatch http://identifiers.org/mesh/D031954 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1135873 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1135873 [Term] id: EFO:1001065 name: normal pressure hydrocephalus def: "A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see GAIT DISORDERS, NEUROLOGIC), progressive intellectual decline, and URINARY INCONTINENCE. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of CSF including SUBARACHNOID HEMORRHAGE, chronic MENINGITIS, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)" [] def: "A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see gait disorders, neurologic), progressive intellectual decline, and urinary incontinence. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of csf including subarachnoid hemorrhage, chronic meningitis, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)" [MESH:D006850] subset: ordo_disease {source="Orphanet:314928"} synonym: "chronic adult hydrocephalus" EXACT [Orphanet:314928] synonym: "Hydrocephalus, Normal Pressure" EXACT [] synonym: "hydrocephalus, normal pressure, 1" EXACT [OMIM:236690, OMIM:genemap2] synonym: "hydrocephalus, normal-pressure" RELATED [OMIM:236690] synonym: "Low pressure hydrocephalus" EXACT [] synonym: "low pressure hydrocephalus" EXACT [DOID:1572] synonym: "normal pressure hydrocephalus" EXACT [] {comment="preferred label from MONDO"} synonym: "Normal pressure hydrocephalus (disorder)" EXACT [] synonym: "NPH" EXACT ABBREVIATION [Orphanet:314928] xref: DOID:1572 {source="EFO:1001065", source="MONDO:equivalentTo"} xref: ICD9:331.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10029773 {source="Orphanet:314928/e", source="EFO:1001065", source="Orphanet:314928"} xref: MESH:D006850 {source="DOID:1572", source="EFO:1001065", source="MONDO:equivalentTo"} xref: MeSH:D006850 xref: MONDO:0009366 xref: OMIM:236690 {source="DOID:1572", source="MONDO:equivalentTo"} xref: Orphanet:314928 {source="MONDO:equivalentObsolete"} xref: SCTID:30753002 {source="DOID:1572", source="EFO:1001065", source="MONDO:equivalentTo"} xref: SNOMEDCT:30753002 xref: UMLS:C0020258 {source="Orphanet:314928/e", source="DOID:1572", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:314928", source="OMIM:236690"} is_a: MONDO:0002045 {source="DOID:1572"} ! communicating hydrocephalus property_value: closeMatch http://identifiers.org/meddra/10029773 property_value: exactMatch DOID:1572 property_value: exactMatch http://identifiers.org/mesh/D006850 property_value: exactMatch http://identifiers.org/snomedct/30753002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020258 property_value: exactMatch https://omim.org/entry/236690 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: EFO:1001066 name: nut allergic reaction def: "Allergic reaction to tree nuts that is triggered by the immune system." [] synonym: "Allergy to nuts (disorder)" EXACT [] synonym: "Allergy to nuts other than peanuts" EXACT [] synonym: "Nut allergy" EXACT [] synonym: "Nut Hypersensitivity" EXACT [] xref: DOID:4379 xref: MeSH:D021184 is_a: EFO:1001890 ! food allergy property_value: IAO:0000117 "Gautier Koscielny" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001067 name: nutritional deficiency disease def: "A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed)" [MESH:D003677] def: "Any condition resulting from the lack of one or more nutrients that the body needs to maintain healthy tissues and organ function" [] synonym: "malnourished" EXACT [NCIT:C3669] synonym: "malnutrition" EXACT [] synonym: "nutritional deficiency disease" EXACT [] {comment="preferred label from MONDO"} xref: DOID:5113 {source="EFO:1001067", source="MONDO:equivalentTo"} xref: ICD10:E63 xref: ICD10CM:E40-E46 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:269.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:269.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10046058 {source="EFO:1001067"} xref: MESH:D003677 {source="DOID:5113", source="EFO:1001067", source="MONDO:equivalentTo"} xref: MeSH:D003677 xref: MONDO:0006873 xref: NCIT:C3669 {source="MONDO:equivalentTo"} xref: SCTID:363246002 {source="MONDO:equivalentTo"} xref: SCTID:70241007 {source="EFO:1001067", source="MONDO:equivalentTo"} xref: SNOMEDCT:70241007 is_a: EFO:0001069 {source="DOID:5113", source="EFO:1001067", source="MESH:D003677/inferred", source="NCIT:C3669"} ! nutritional disorder property_value: closeMatch http://identifiers.org/meddra/10046058 property_value: exactMatch DOID:5113 property_value: exactMatch http://identifiers.org/mesh/D003677 property_value: exactMatch http://identifiers.org/snomedct/363246002 property_value: exactMatch http://identifiers.org/snomedct/70241007 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E40-E46 property_value: exactMatch NCIT:C3669 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001068 name: obstructive jaundice def: "A finding indicating increased bilirubin levels in the blood and urine, due to intrahepatic or extrahepatic obstruction of the biliary system." [NCIT:P378] def: "Jaundice, the condition with yellowish staining of the skin and mucous membranes, that is due to impaired BILE flow in the BILIARY TRACT, such as INTRAHEPATIC CHOLESTASIS, or EXTRAHEPATIC CHOLESTASIS." [] synonym: "Cholestatic Jaundice" EXACT [] synonym: "cholestatic jaundice" EXACT [DOID:13603, NCIT:C34742] synonym: "cholestatic jaundice syndrome" EXACT [DOID:13603] synonym: "Cholestatic jaundice syndrome (disorder)" EXACT [] synonym: "Jaundice, Obstructive" EXACT [] synonym: "Obstructive hyperbilirubinemia" EXACT [] synonym: "obstructive hyperbilirubinemia" EXACT [DOID:13603, MTH:U000257] synonym: "Obstructive hyperbilirubinemia (disorder)" EXACT [] synonym: "obstructive jaundice" EXACT [] {comment="preferred label from MONDO"} synonym: "Obstructive jaundice NOS" EXACT [] synonym: "Obstructive jaundice NOS (disorder)" EXACT [] xref: DOID:13603 {source="EFO:1001068", source="MONDO:equivalentTo"} xref: MedDRA:10023129 xref: MedDRA:10029982 {source="EFO:1001068"} xref: MESH:D041781 {source="DOID:13603", source="EFO:1001068", source="MONDO:equivalentTo"} xref: MeSH:D041781 xref: MONDO:0006874 xref: NCIt:C34742 xref: SCTID:44018007 {source="DOID:13603", source="MONDO:equivalentTo"} xref: UMLS:C0022354 {source="DOID:13603", source="MONDO:equivalentTo"} is_a: EFO:1000400 {source="EFO:1001068"} ! Non-Neoplastic Bile Duct Disorder is_a: MONDO:0001751 {source="DOID:13603"} ! cholestasis property_value: closeMatch http://identifiers.org/meddra/10029982 property_value: exactMatch DOID:13603 property_value: exactMatch http://identifiers.org/mesh/D041781 property_value: exactMatch http://identifiers.org/snomedct/44018007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022354 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001069 name: ocular hypertension def: "A condition in which the intraocular pressure is elevated above normal and which may lead to glaucoma." [] def: "Abnormally high intraocular pressure." [NCIT:P378] synonym: "Ocular Hypertension" EXACT [] synonym: "Ocular hypertension" EXACT [] synonym: "ocular hypertension" EXACT [] {comment="preferred label from MONDO"} synonym: "Ocular hypertension (disorder)" EXACT [] xref: DOID:9282 {source="MONDO:equivalentTo", source="EFO:1001069"} xref: ICD9:365.04 {source="MONDO:equivalentTo", source="DOID:9282", source="EFO:1001069", source="MONDO:i2s"} xref: MedDRA:10030043 {source="EFO:1001069"} xref: MESH:D009798 {source="MONDO:equivalentTo", source="DOID:9282", source="EFO:1001069"} xref: MeSH:D009798 xref: MONDO:0006875 xref: NCIt:C3285 xref: SCTID:4210003 {source="MONDO:equivalentTo", source="DOID:9282", source="EFO:1001069"} xref: SNOMEDCT:4210003 xref: UMLS:C0028840 {source="MONDO:equivalentTo", source="DOID:9282"} is_a: EFO:0000537 {source="EFO:1001069"} ! hypertension is_a: EFO:0003966 {source="DOID:9282", source="MESH:D009798"} ! eye disease property_value: closeMatch http://identifiers.org/meddra/10030043 property_value: exactMatch DOID:9282 property_value: exactMatch http://identifiers.org/mesh/D009798 property_value: exactMatch http://identifiers.org/snomedct/4210003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0028840 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001070 name: ocular tuberculosis def: "Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid." [MESH:D014392] synonym: "ocular tuberculosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Tuberculosis of eye" EXACT [] synonym: "Tuberculosis of eye (disorder)" EXACT [] synonym: "Tuberculosis of eye NOS (disorder)" EXACT [] synonym: "Tuberculosis of eye, unspecified examination" EXACT [] synonym: "Tuberculosis, Ocular" EXACT [] xref: DOID:0070344 {source="MONDO:equivalentTo"} xref: DOID:233 xref: ICD9:017.30 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:017.32 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D014392 {source="MONDO:equivalentTo", source="EFO:1001070"} xref: MeSH:D014392 xref: MONDO:0006876 xref: SCTID:49107007 {source="MONDO:equivalentTo", source="EFO:1001070"} xref: SNOMEDCT:49107007 xref: UMLS:C0041322 {source="MONDO:equivalentTo"} is_a: MONDO:0000368 {source="https://orcid.org/0000-0002-6670-9157"} ! extrapulmonary tuberculosis is_a: MONDO:0043885 ! eye infectious disorder property_value: exactMatch DOID:0070344 property_value: exactMatch http://identifiers.org/mesh/D014392 property_value: exactMatch http://identifiers.org/snomedct/49107007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041322 property_value: excluded_subClassOf MONDO:0018076 {source="EFO:1001070", source="MESH:D014392"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4143 xsd:anyURI [Term] id: EFO:1001071 name: oophoritis def: "Inflammation of the OVARY, generally caused by an ascending infection of organisms from the endocervix." [] def: "Inflammation of the ovary, generally caused by an ascending infection of organisms from the endocervix." [MESH:D009869] synonym: "inflammation of ovary" EXACT [] synonym: "Oophoritis" EXACT [] synonym: "oophoritis" EXACT [] {comment="preferred label from MONDO"} synonym: "Oophoritis (disorder)" EXACT [] synonym: "Oophoritis unspecified (disorder)" EXACT [] synonym: "ovary inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:10974 {source="MONDO:equivalentTo", source="EFO:1001071"} xref: MedDRA:10030345 {source="EFO:1001071"} xref: MESH:D009869 {source="DOID:10974", source="MONDO:equivalentTo", source="EFO:1001071"} xref: MeSH:D009869 xref: MONDO:0006877 xref: SCTID:76047005 {source="DOID:10974", source="MONDO:equivalentTo", source="EFO:1001071"} xref: SNOMEDCT:76047005 xref: UMLS:C0029051 {source="DOID:10974", source="MONDO:equivalentTo"} is_a: EFO:0005771 {source="DOID:10974", source="EFO:1001071", source="MESH:D009869", source="MONDO:Redundant"} ! ovarian disease is_a: EFO:0009903 {source="MONDO:Redundant"} ! inflammatory disease property_value: closeMatch http://identifiers.org/meddra/10030345 property_value: exactMatch DOID:10974 property_value: exactMatch http://identifiers.org/mesh/D009869 property_value: exactMatch http://identifiers.org/snomedct/76047005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029051 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001072 name: opportunistic Moraxellaceae infectious disease def: "Infections with bacteria of the family MORAXELLACEAE." [] def: "Infections with bacteria of the family moraxellaceae." [MESH:D045828] synonym: "infection, Moraxella" RELATED [MESH:D045828] synonym: "infection, Moraxellaceae" RELATED [MESH:D045828] synonym: "infection, Psychobacter" RELATED [MESH:D045828] synonym: "infections, Moraxella" RELATED [MESH:D045828] synonym: "infections, Moraxellaceae" RELATED [MESH:D045828] synonym: "infections, Psychobacter" RELATED [MESH:D045828] synonym: "Moraxella infection" RELATED [MESH:D045828] synonym: "Moraxella infections" RELATED [MESH:D045828] synonym: "Moraxellaceae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Moraxellaceae disease or disorder" EXACT [] synonym: "Moraxellaceae infection" RELATED [MESH:D045828] synonym: "Moraxellaceae Infections" EXACT [] synonym: "Moraxellaceae infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Psychobacter infection" RELATED [MESH:D045828] synonym: "Psychobacter infections" RELATED [MESH:D045828] xref: DOID:3092 xref: MESH:D045828 {source="MONDO:equivalentTo", source="EFO:1001072"} xref: MeSH:D045828 xref: MONDO:0006878 is_a: MONDO:0021678 {source="MESH:D045828"} ! gram-negative bacterial infections property_value: exactMatch http://identifiers.org/mesh/D045828 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001073 name: optic nerve neoplasm def: "Benign and malignant neoplasms that arise from the optic nerve or its sheath. OPTIC NERVE GLIOMA is the most common histologic type. Optic nerve neoplasms tend to cause unilateral visual loss and an afferent pupillary defect and may spread via neural pathways to the brain." [] def: "Benign and malignant neoplasms which arise from or metastasize to the optic or second cranial nerve which extends from the optic disk of the eye and joins the optic chiasm. Clinical features may include visual loss, proptosis, and local pain. The majority of optic nerve tumors or optic gliomas." [NCIT:C4801] synonym: "cranial nerve II neoplasm" EXACT [] synonym: "cranial nerve II neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "cranial nerve II neoplasms" EXACT [NCIT:C4801] synonym: "cranial nerve II tumor" EXACT [MONDO:patterns/neoplasm] synonym: "cranial nerve II tumour" EXACT OMO:0003005 [] synonym: "neoplasm of cranial nerve II" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of optic nerve" EXACT [NCIT:C4801] synonym: "neoplasm of optic nerve (disorder)" EXACT [] synonym: "neoplasm of second cranial nerve" EXACT [NCIT:C4801] synonym: "neoplasm of the optic nerve" EXACT [NCIT:C4801] synonym: "neoplasm of the second cranial nerve" EXACT [NCIT:C4801] synonym: "neoplasms, optic nerve" EXACT [NCIT:C4801] synonym: "neoplasms, second cranial nerve" EXACT [NCIT:C4801] synonym: "optic nerve neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "optic nerve neoplasm" EXACT [NCIT:C4801] synonym: "Optic Nerve Neoplasms" EXACT [] synonym: "optic nerve neoplasms" EXACT [NCIT:C4801] synonym: "optic nerve tumor" EXACT [NCIT:C4801] synonym: "optic nerve tumour" EXACT OMO:0003005 [] synonym: "second cranial nerve neoplasm" EXACT [NCIT:C4801] synonym: "second cranial nerve neoplasms" EXACT [NCIT:C4801] synonym: "second cranial nerve tumor" EXACT [NCIT:C4801] synonym: "second cranial nerve tumour" EXACT OMO:0003005 [] synonym: "tumor of cranial nerve II" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of optic nerve" EXACT [DOID:3419, NCIT:C4801] synonym: "tumor of Second Cranial nerve" EXACT [] synonym: "tumor of second cranial nerve" EXACT [DOID:3419, NCIT:C4801] synonym: "tumor of the optic nerve" EXACT [NCIT:C4801] synonym: "tumor of the second cranial nerve" EXACT [NCIT:C4801] synonym: "tumour of cranial nerve II" EXACT OMO:0003005 [] synonym: "Tumour of optic nerve" EXACT [] synonym: "tumour of optic nerve" EXACT OMO:0003005 [] synonym: "tumour of second cranial nerve" EXACT OMO:0003005 [] synonym: "tumour of the optic nerve" EXACT OMO:0003005 [] synonym: "tumour of the second cranial nerve" EXACT OMO:0003005 [] xref: DOID:3419 {source="MONDO:equivalentTo"} xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10053645 xref: MESH:D019574 {source="MONDO:equivalentTo", source="DOID:3419"} xref: MeSH:D019574 xref: MONDO:0002640 xref: NCIT:C4801 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3419"} xref: NCIt:C4801 xref: SCTID:395505000 {source="MONDO:equivalentTo", source="DOID:3419"} xref: SNOMEDCT:395505000 xref: UMLS:C0524802 {source="MONDO:equivalentTo", source="NCIT:C4801", source="DOID:3419"} is_a: EFO:0003833 ! brain neoplasm is_a: MONDO:0002135 {source="MESH:D019574", source="MONDO:Redundant", source="NCIT:C4801"} ! optic nerve disorder is_a: MONDO:0002633 {source="DOID:3419", source="MESH:D019574", source="NCIT:C4801"} ! cranial nerve neoplasm property_value: exactMatch DOID:3419 property_value: exactMatch http://identifiers.org/mesh/D019574 property_value: exactMatch http://identifiers.org/snomedct/395505000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0524802 property_value: exactMatch NCIT:C4801 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001074 name: optic papillitis def: "Swelling of the OPTIC DISK, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause OPTIC ATROPHY and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175)" [] def: "Swelling of the optic disk, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause optic atrophy and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175)" [MESH:D010211] synonym: "Choked disc" EXACT OMO:0003005 [] synonym: "Choked discs" EXACT OMO:0003005 [] synonym: "Choked disk" EXACT [MESH:D010211] synonym: "Choked disks" EXACT [MESH:D010211] synonym: "decreased intraocular pressure associated papilledema" EXACT [MESH:D010211] synonym: "decreased intraocular pressure-associated papilledema" EXACT [MESH:D010211] synonym: "disk, Choked" EXACT [MESH:D010211] synonym: "disks, Choked" EXACT [MESH:D010211] synonym: "edema of the optic disk" EXACT [MESH:D010211] synonym: "edema, optic disc" EXACT OMO:0003005 [] synonym: "edema, optic disk" EXACT [MESH:D010211] synonym: "edema, optic papilla" EXACT [MESH:D010211] synonym: "edema, retinal" RELATED [MESH:D010211] synonym: "Edemas, optic disc" EXACT OMO:0003005 [] synonym: "Edemas, optic disk" EXACT [MESH:D010211] synonym: "Edemas, retinal" RELATED [MESH:D010211] synonym: "increased intracranial pressure associated papilledema" EXACT [MESH:D010211] synonym: "increased intracranial pressure-associated papilledema" EXACT [MESH:D010211] synonym: "inflammation of optic disc" EXACT OMO:0003005 [] synonym: "inflammation of optic disk" EXACT [] synonym: "oedema of the optic disc" EXACT OMO:0003005 [] synonym: "optic disc inflammation" EXACT OMO:0003005 [] synonym: "optic disc oedema" EXACT OMO:0003005 [] synonym: "optic discitis" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "optic disk edema" EXACT [MESH:D010211] synonym: "optic disk inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "optic nerve papillitis" EXACT [MESH:D010211] synonym: "optic papilla edema" EXACT [MESH:D010211] synonym: "optic papilla oedema" EXACT OMO:0003005 [] synonym: "optic papillitis" EXACT [MESH:D010211] synonym: "optic papillitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Papilledema" EXACT [] synonym: "papilledema associated with decreased intraocular pressure" EXACT [MESH:D010211] synonym: "papilledema associated with increased intracranial pressure" EXACT [MESH:D010211] synonym: "papillitis" EXACT [DOID:10175, MESH:D010211] synonym: "papillitis, optic" EXACT [MESH:D010211] synonym: "papillitis, optic nerve" EXACT [MESH:D010211] synonym: "retinal edema" RELATED [MESH:D010211] synonym: "retinal Edemas" RELATED [MESH:D010211] synonym: "retinal oedema" RELATED OMO:0003005 [] xref: DOID:10175 {source="EFO:1001074", source="MONDO:equivalentTo"} xref: ICD10:H46.0 xref: ICD9:362.83 {source="DOID:10175", source="MONDO:directSiblingOf"} xref: ICD9:377.0 {source="DOID:10175"} xref: ICD9:377.00 {source="MONDO:relatedTo", source="DOID:10175"} xref: ICD9:377.01 {source="DOID:10175"} xref: ICD9:377.31 {source="EFO:1001074", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10175"} xref: MedDRA:10030948 {source="EFO:1001074"} xref: MeSH:D010211 xref: MONDO:0006879 xref: SCTID:423341008 {source="MONDO:relatedTo", source="DOID:10175"} xref: SCTID:6141006 {source="DOID:10175", source="MONDO:directSiblingOf"} xref: SCTID:73221001 {source="EFO:1001074", source="MONDO:equivalentTo", source="DOID:10175"} xref: SNOMEDCT:73221001 is_a: EFO:0007405 {source="DOID:10175"} ! optic neuritis is_a: MONDO:0002708 ! retinitis property_value: closeMatch http://identifiers.org/meddra/10030948 property_value: exactMatch DOID:10175 property_value: exactMatch http://identifiers.org/snomedct/73221001 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5537 xsd:anyURI [Term] id: EFO:1001075 name: oral leukoedema def: "A disorder of the buccal mucosa resembling early leukoplakia, characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. (Dorland, 27th ed)" [MESH:D007967] synonym: "Leukedema of mouth" EXACT [] synonym: "leukedema of mouth" EXACT [DOID:4557] synonym: "Leukoedema, Oral" EXACT [] synonym: "oral leukoedema" EXACT [] {comment="preferred label from MONDO"} xref: DOID:4557 {source="EFO:1001075", source="MONDO:equivalentTo"} xref: ICD9:528.79 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10057365 {source="EFO:1001075"} xref: MESH:D007967 {source="EFO:1001075", source="MONDO:equivalentTo", source="DOID:4557"} xref: MeSH:D007967 xref: MONDO:0006880 xref: SCTID:67795000 {source="EFO:1001075", source="MONDO:equivalentTo", source="DOID:4557"} xref: SNOMEDCT:67795000 xref: UMLS:C0023523 {source="MONDO:equivalentTo", source="DOID:4557"} is_a: EFO:1001047 {source="DOID:4557", source="EFO:1001075", source="MESH:D007967"} ! mouth disease property_value: closeMatch http://identifiers.org/meddra/10057365 property_value: exactMatch DOID:4557 property_value: exactMatch http://identifiers.org/mesh/D007967 property_value: exactMatch http://identifiers.org/snomedct/67795000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023523 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001076 name: orbital cellulitis def: "Inflammation of the eye tissues posterior to the orbital septum, and generally secondary to an infection spread from adjacent sinuses. Signs and symptoms of the affected eye include sudden loss of vision, erythema, edema, decreased eye movement, and pain. Treatment is conducted via intravenous antibiotics, observation, and surgical intervention when necessary." [NCIT:P378] def: "Inflammation of the loose connective tissues around the ORBIT, bony structure around the eyeball. It is characterized by PAIN; EDEMA of the CONJUNCTIVA; swelling of the EYELIDS; EXOPHTHALMOS; limited eye movement; and loss of vision." [] synonym: "Orbital Cellulitis" EXACT [] synonym: "orbital cellulitis" EXACT [DOID:11234] synonym: "orbital cellulitis" EXACT [] {comment="preferred label from MONDO"} synonym: "orbital cellulitis (disorder)" EXACT [] xref: DOID:11234 {source="EFO:1001076", source="MONDO:equivalentTo"} xref: ICD9:376.01 {source="EFO:1001076", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11234"} xref: MedDRA:10031036 {source="EFO:1001076"} xref: MESH:D054517 {source="EFO:1001076", source="MONDO:equivalentTo", source="DOID:11234"} xref: MeSH:D054517 xref: MONDO:0006881 xref: NCIT:C99000 {source="EFO:1001076", source="MONDO:equivalentTo", source="DOID:11234"} xref: NCIt:C99000 xref: SCTID:194005002 {source="EFO:1001076", source="MONDO:equivalentTo", source="DOID:11234"} xref: SNOMEDCT:194005002 xref: UMLS:C0149507 {source="MONDO:equivalentTo", source="NCIT:C99000", source="DOID:11234"} is_a: EFO:0003035 {source="EFO:1001076", source="MESH:D054517", source="NCIT:C99000"} ! cellulitis is_a: MONDO:0001230 {source="DOID:11234"} ! acute orbital inflammation property_value: closeMatch http://identifiers.org/meddra/10031036 property_value: exactMatch DOID:11234 property_value: exactMatch http://identifiers.org/mesh/D054517 property_value: exactMatch http://identifiers.org/snomedct/194005002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149507 property_value: exactMatch NCIT:C99000 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001077 name: orbital plasma cell granuloma def: "A nonspecific tumor-like inflammatory lesion in the ORBIT of the eye. It is usually composed of mature LYMPHOCYTES; PLASMA CELLS; MACROPHAGES; LEUKOCYTES with varying degrees of FIBROSIS. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (ORBITAL MYOSITIS) or inflammation of the lacrimal glands (DACRYOADENITIS)." [] synonym: "Idiopathic orbital inflammation" EXACT [] synonym: "Inflammatory pseudotumor of orbit (disorder)" EXACT [] synonym: "Orbital Pseudotumor" EXACT [] synonym: "Pseudotumor of orbit" EXACT [] xref: DOID:9369 xref: MeSH:D016727 is_a: EFO:0007408 ! orbital cancer property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001078 name: orchitis def: "Inflammation of a TESTIS. It has many features of EPIDIDYMITIS, such as swollen SCROTUM; PAIN; PYURIA; and FEVER. It is usually related to infections in the URINARY TRACT, which likely spread to the EPIDIDYMIS and then the TESTIS through either the VAS DEFERENS or the lymphatics of the SPERMATIC CORD." [] def: "Inflammation of one or both testes due to viral or bacterial infections. Signs and symptoms include enlargement or tenderness of the affected testis, inguinal lymphadenopathy, blood in the semen, and pain during urination, intercourse, or ejaculation." [NCIT:P378] synonym: "Inflammation of testis" EXACT [DOID:2518] synonym: "inflammation of testis" EXACT [] synonym: "Inflammation of testis (disorder)" EXACT [] synonym: "Orchitis" EXACT [] synonym: "orchitis" EXACT [] {comment="preferred label from MONDO"} synonym: "orchitis" EXACT [MONDO:ambiguous] synonym: "orchitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Orchititis" EXACT [DOID:2518] synonym: "testis inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "testisitis" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:2518 {source="EFO:1001078", source="MONDO:equivalentTo"} xref: HP:0100796 {source="MONDO:otherHierarchy"} xref: ICD10:N45 xref: ICD10CM:N45.2 {source="MONDO:equivalentTo", source="DOID:2518"} xref: MedDRA:10031064 {source="EFO:1001078"} xref: MedDRA:10031070 xref: MESH:D009920 {source="EFO:1001078", source="MONDO:equivalentTo", source="DOID:2518"} xref: MeSH:D009920 xref: MONDO:0006882 xref: NCIT:C97145 {source="EFO:1001078", source="MONDO:equivalentTo", source="DOID:2518"} xref: NCIt:C97145 xref: SCTID:274718005 {source="EFO:1001078", source="MONDO:equivalentTo", source="DOID:2518"} xref: SNOMEDCT:274718005 xref: UMLS:C0029191 {source="MONDO:equivalentTo", source="NCIT:C97145", source="DOID:2518"} is_a: EFO:0009601 {source="DOID:2518", source="MESH:D009920", source="MONDO:Redundant", source="NCIT:C97145/inferred"} ! testicular disease is_a: EFO:0009903 {source="MONDO:Redundant"} ! inflammatory disease relationship: RO:0000056 GO:0006954 ! participates_in inflammatory response property_value: closeMatch http://identifiers.org/meddra/10031064 property_value: exactMatch DOID:2518 property_value: exactMatch http://identifiers.org/mesh/D009920 property_value: exactMatch http://identifiers.org/snomedct/274718005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029191 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/N45.2 property_value: exactMatch NCIT:C97145 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000589 "orchitis (disease)" xsd:string [Term] id: EFO:1001079 name: oxyphilic adenoma def: "A benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic adenomas of the thyroid gland, parathyroid gland, and pituitary gland." [NCIT:C3759] def: "A usually benign glandular tumor composed of oxyphil cells, large cells with small irregular nuclei and dense acidophilic granules due to the presence of abundant MITOCHONDRIA. Oxyphil cells, also known as oncocytes, are found in oncocytomas of the kidney, salivary glands, and endocrine glands. In the thyroid gland, oxyphil cells are known as Hurthle cells and Askanazy cells." [] synonym: "Adenoma, Oxyphilic" EXACT [] synonym: "Follicular adenoma, oxyphilic cell" EXACT [] synonym: "follicular adenoma, oxyphilic cell" EXACT [DOID:5389] synonym: "oncocytic adenoma" EXACT [] {comment="preferred label from MONDO"} synonym: "oncocytic adenoma" EXACT [NCIT:C3759] synonym: "Oncocytoma" EXACT [] synonym: "oncocytoma" EXACT [DOID:5389, NCIT:C3759] synonym: "oxyphilic adenoma" EXACT [NCIT:C3759] xref: DOID:5389 {source="MONDO:equivalentTo"} xref: ICDO:8290/0 {source="NCIT:C3759"} xref: MedDRA:10048757 xref: MeSH:D018249 xref: MONDO:0003424 xref: NCIT:C3759 {source="NCIT:C3759", source="DOID:5389", source="MONDO:equivalentTo"} xref: SNOMEDCT:89439007 xref: UMLS:C1510502 {source="NCIT:C3759", source="DOID:5389", source="MONDO:equivalentTo"} is_a: EFO:0000232 {source="MONDO:Redundant", source="NCIT:C3759"} ! adenoma is_a: EFO:0003769 ! endocrine neoplasm is_a: MONDO:0010795 {source="MONDO:Redundant", source="NCIT:C3759"} ! oncocytic neoplasm intersection_of: EFO:0000232 ! adenoma intersection_of: MONDO:0010795 ! oncocytic neoplasm property_value: exactMatch DOID:5389 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1510502 property_value: exactMatch NCIT:C3759 property_value: excluded_subClassOf MONDO:0000627 {source="DOID:5389"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001080 name: Pancoast tumor def: "A malignant neoplasm originating from the apical lung. Most malignant superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor." [NCIT:C7527] synonym: "malignant pulmonary sulcus neoplasm" EXACT [] synonym: "malignant Superior sulcus lung neoplasm" EXACT [NCIT:C7527] synonym: "malignant Superior sulcus lung tumor" EXACT [NCIT:C7527] synonym: "malignant Superior sulcus lung tumour" EXACT OMO:0003005 [] synonym: "malignant Superior sulcus neoplasm" EXACT [NCIT:C7527] synonym: "malignant superior sulcus neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "malignant superior sulcus neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "malignant Superior sulcus neoplasm of lung" EXACT [NCIT:C7527] synonym: "malignant Superior sulcus neoplasm of the lung" EXACT [NCIT:C7527] synonym: "malignant Superior sulcus tumor" EXACT [DOID:8007, NCIT:C7527] synonym: "malignant Superior sulcus tumor of lung" EXACT [NCIT:C7527] synonym: "malignant Superior sulcus tumor of the lung" EXACT [NCIT:C7527] synonym: "malignant Superior sulcus tumour" EXACT OMO:0003005 [] synonym: "malignant Superior sulcus tumour of lung" EXACT OMO:0003005 [] synonym: "malignant Superior sulcus tumour of the lung" EXACT OMO:0003005 [] synonym: "Pancoast tumor" EXACT [NCIT:C7527] synonym: "Pancoast tumour" EXACT OMO:0003005 [] synonym: "Pancoast's syndrome" RELATED [DOID:8007] synonym: "Pancoast's tumor" EXACT [NCIT:C7527] synonym: "Pancoast's tumor" EXACT [DOID:8007, NCIT:C7527] synonym: "Pancoast's tumour" EXACT [DOID:8007] synonym: "Pancoast's tumour" EXACT OMO:0003005 [] synonym: "pulmonary sulcus neoplasm, malignant" EXACT [MONDO:patterns/malignant] synonym: "pulmonary sulcus tumour" RELATED OMO:0003005 [] synonym: "superior pulmonary sulcus syndrome" EXACT [DOID:8007] synonym: "superior pulmonary sulcus syndrome (disorder) [ambiguous]" RELATED [DOID:8007] synonym: "superior sulcus tumor" RELATED [] synonym: "superior sulcus tumour" RELATED OMO:0003005 [] xref: DOID:8007 {source="MONDO:equivalentTo", source="EFO:1001080"} xref: EFO:1001080 {source="MONDO:equivalentTo"} xref: MESH:D010178 {source="DOID:8007", source="MONDO:relatedTo", source="EFO:1001080"} xref: MONDO:0006883 xref: NCIT:C55815 {source="DOID:8007", source="MONDO:relatedTo"} xref: NCIT:C7527 {source="DOID:8007", source="MONDO:equivalentTo"} xref: SCTID:254638002 {source="DOID:8007", source="MONDO:equivalentTo", source="EFO:1001080"} xref: SCTID:278065000 {source="DOID:8007", source="MONDO:relatedTo"} xref: UMLS:C0030271 {source="DOID:8007", source="MONDO:relatedTo"} xref: UMLS:C0549471 {source="DOID:8007", source="MONDO:equivalentTo", source="NCIT:C7527"} is_a: MONDO:0008903 {source="DOID:8007", source="MONDO:Redundant", source="NCIT:C7527"} ! lung cancer is_a: MONDO:0024813 {source="MONDO:Redundant", source="NCIT:C7527"} ! pulmonary sulcus neoplasm property_value: closeMatch http://identifiers.org/snomedct/154486000 property_value: closeMatch http://identifiers.org/snomedct/187860004 property_value: closeMatch http://identifiers.org/snomedct/269562004 property_value: closeMatch http://identifiers.org/snomedct/80367008 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1335574 property_value: exactMatch DOID:8007 property_value: exactMatch DOID:8007 property_value: exactMatch http://identifiers.org/snomedct/254638002 property_value: exactMatch http://identifiers.org/snomedct/254638002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0549471 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0549471 property_value: exactMatch NCIT:C7527 property_value: exactMatch NCIT:C7527 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: excluded_subClassOf MONDO:0005138 {source="EFO:1001080"} property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/malignant.yaml [Term] id: EFO:1001081 name: panophthalmitis def: "Acute suppurative inflammation of the inner eye with necrosis of the sclera (and sometimes the cornea) and extension of the inflammation into the orbit. Pain may be severe and the globe may rupture. In endophthalmitis the globe does not rupture." [MESH:D010202] synonym: "Panophthalmitis" EXACT [] synonym: "panophthalmitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Panophthalmitis (disorder)" EXACT [] xref: DOID:13732 {source="MONDO:equivalentTo", source="EFO:1001081"} xref: ICD9:360.02 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13732"} xref: MedDRA:10033683 {source="EFO:1001081"} xref: MESH:D010202 {source="MONDO:equivalentTo", source="EFO:1001081", source="DOID:13732"} xref: MeSH:D010202 xref: MONDO:0006884 xref: SCTID:33382000 {source="MONDO:equivalentTo", source="EFO:1001081", source="DOID:13732"} xref: SNOMEDCT:33382000 xref: UMLS:C0030332 {source="MONDO:equivalentTo", source="DOID:13732"} is_a: MONDO:0001718 {source="DOID:13732"} ! scleritis is_a: MONDO:0004863 {source="DOID:13732"} ! purulent endophthalmitis property_value: closeMatch http://identifiers.org/meddra/10033683 property_value: exactMatch DOID:13732 property_value: exactMatch http://identifiers.org/mesh/D010202 property_value: exactMatch http://identifiers.org/snomedct/33382000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030332 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001082 name: panuveitis def: "A disorder characterized by inflammation of the entire uvea which includes the iris, ciliary body, and choroid. Causes include systemic infections, sarcoidosis, and cancers." [NCIT:C84989] def: "Inflammation in which both the anterior and posterior segments of the uvea are involved and a specific focus is not apparent. It is often severe and extensive and a serious threat to vision. Causes include systemic diseases such as tuberculosis, sarcoidosis, and syphilis, as well as malignancies. The intermediate segment of the eye is not involved." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:280898"} synonym: "Diffuse uveitis" EXACT [] synonym: "diffuse uveitis" EXACT [DOID:12030] synonym: "Panuveitis" EXACT [] synonym: "panuveitis" EXACT [MONDO:ambiguous] synonym: "panuveitis" EXACT [] {comment="preferred label from MONDO"} synonym: "panuveitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "total uveitis" EXACT [Orphanet:280898] xref: DOID:12030 {source="MONDO:equivalentTo", source="EFO:1001082"} xref: HP:0012121 {source="MONDO:otherHierarchy"} xref: ICD9:360.12 {source="DOID:12030", source="MONDO:equivalentTo", source="MONDO:i2s", source="MONDO:directSiblingOf"} xref: MedDRA:10033687 {source="Orphanet:280898/e", source="EFO:1001082", source="Orphanet:280898"} xref: MESH:D015864 {source="DOID:12030", source="MONDO:equivalentTo", source="EFO:1001082"} xref: MeSH:D015864 xref: MONDO:0017255 xref: NCIT:C84989 {source="DOID:12030", source="MONDO:equivalentTo", source="EFO:1001082"} xref: NCIt:C84989 xref: Orphanet:280898 {source="MONDO:equivalentTo"} xref: SCTID:75614007 {source="DOID:12030", source="MONDO:equivalentTo", source="EFO:1001082", source="MONDO:directSiblingOf"} xref: SNOMEDCT:75614007 is_a: EFO:1001231 {source="DOID:12030", source="EFO:1001082", source="MESH:D015864", source="NCIT:C84989", source="Orphanet:280898"} ! uveitis property_value: closeMatch http://identifiers.org/meddra/10033687 property_value: exactMatch DOID:12030 property_value: exactMatch http://identifiers.org/mesh/D015864 property_value: exactMatch http://identifiers.org/snomedct/75614007 property_value: exactMatch NCIT:C84989 property_value: exactMatch Orphanet:280898 property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000589 "panuveitis (disease)" xsd:string [Term] id: EFO:1001083 name: papillary follicular thyroid adenocarcinoma def: "A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271)" [MESH:D018265] synonym: "papillary and follicular adenocarcinoma" EXACT [NCIT:C7380] synonym: "papillary and follicular carcinoma" EXACT [NCIT:C7380] synonym: "papillary follicular thyroid adenocarcinoma" RELATED [DOID:3968] synonym: "thyroid gland papillary and follicular carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "thyroid gland papillary and follicular carcinoma" EXACT [NCIT:C7380] synonym: "thyroid gland papillary and follicular carcinoma" EXACT [] {comment="preferred label from MONDO"} xref: DOID:3968 {source="MONDO:equivalentTo", source="EFO:1001083"} xref: EFO:1001083 {source="MONDO:equivalentTo"} xref: MESH:D018265 {source="MONDO:equivalentTo", source="DOID:3968", source="EFO:1001083"} xref: MONDO:0006886 xref: NCIT:C7380 {source="MONDO:equivalentTo", source="DOID:3968"} xref: UMLS:C0206683 {source="MONDO:equivalentTo", source="DOID:3968", source="NCIT:C7380"} is_a: EFO:0000501 {source="MESH:D018265"} ! follicular thyroid carcinoma is_a: EFO:0000641 {source="DOID:3968", source="EFO:1001083", source="MONDO:Redundant"} ! papillary thyroid carcinoma property_value: closeMatch http://identifiers.org/snomedct/189643000 property_value: closeMatch http://identifiers.org/snomedct/21968007 property_value: exactMatch DOID:3968 property_value: exactMatch DOID:3968 property_value: exactMatch http://identifiers.org/mesh/D018265 property_value: exactMatch http://identifiers.org/mesh/D018265 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206683 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206683 property_value: exactMatch NCIT:C7380 property_value: exactMatch NCIT:C7380 [Term] id: EFO:1001084 name: parametritis def: "Inflammation of the parametrium, the connective tissue of the pelvic floor, extending from the subserous coat of the uterus laterally between the layers of the BROAD LIGAMENT." [] def: "Inflammation of the parametrium, the connective tissue of the pelvic floor, extending from the subserous coat of the uterus laterally between the layers of the broad ligament." [MESH:D010249] synonym: "inflammation of parametrium" EXACT [] synonym: "Parametritis" EXACT [] synonym: "parametritis" EXACT [] {comment="preferred label from MONDO"} synonym: "parametrium inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "pelvic cellulitis" EXACT [DOID:1260] synonym: "pelvic cellulitis unspecified (disorder)" EXACT [] xref: DOID:1260 {source="MONDO:equivalentTo", source="EFO:1001084"} xref: MedDRA:10033847 xref: MESH:D010249 {source="MONDO:equivalentTo", source="EFO:1001084", source="DOID:1260"} xref: MeSH:D010249 xref: MONDO:0006887 xref: SCTID:280483007 {source="MONDO:equivalentTo", source="DOID:1260"} xref: UMLS:C0030455 {source="MONDO:equivalentTo", source="DOID:1260"} is_a: EFO:1001388 {source="DOID:1260", source="MESH:D010249"} ! Pelvic Inflammatory Disease is_a: MONDO:0002654 ! uterine disorder is_a: MONDO:0043786 ! serositis is_a: MONDO:0045043 ! disorder of uterine broad ligament relationship: RO:0000056 GO:0006954 ! participates_in inflammatory response property_value: exactMatch DOID:1260 property_value: exactMatch http://identifiers.org/mesh/D010249 property_value: exactMatch http://identifiers.org/snomedct/280483007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030455 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001085 name: paraneoplastic polyneuropathy def: "A diffuse or multifocal peripheral neuropathy caused by the effects of a distant neoplasm. It may be attributed, in part, to the immune response to neoplasm-elaborated proteins. The neuropathy may be sensory, motor, mixed or autonomic. It may be the initial presentation of an occult neoplasm. Detection and resection of the neoplasm may result in cure." [NCIT:C3981] def: "A diffuse or multifocal peripheral neuropathy related to the remote effects of a neoplasm, most often carcinoma or lymphoma. Pathologically, there are inflammatory changes in peripheral nerves. The most common clinical presentation is a symmetric distal mixed sensorimotor polyneuropathy. (Adams et al., Principles of Neurology, 6th ed, p1334)" [] synonym: "Paraneoplastic neuropathy (disorder)" EXACT [] synonym: "Paraneoplastic Polyneuropathy" EXACT [] synonym: "paraneoplastic polyneuropathy" EXACT [NCIT:C3981] synonym: "paraneoplastic polyneuropathy" EXACT [] {comment="preferred label from MONDO"} synonym: "polyneuropathy in malignant disease" EXACT [] xref: DOID:8681 {source="EFO:1001085", source="MONDO:equivalentTo"} xref: ICD9:357.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8681"} xref: MedDRA:10062289 {source="EFO:1001085"} xref: MESH:D020364 {source="EFO:1001085", source="MONDO:equivalentTo", source="DOID:8681"} xref: MeSH:D020364 xref: MONDO:0006888 xref: NCIT:C3981 {source="EFO:1001085", source="MONDO:equivalentTo", source="NCIT:C3981", source="DOID:8681"} xref: NCIt:C3981 xref: SCTID:77659000 {source="MONDO:equivalentTo", source="DOID:8681"} xref: UMLS:C0270932 {source="MONDO:equivalentTo", source="NCIT:C3981", source="DOID:8681"} is_a: EFO:0003782 ! motor neuron disease is_a: EFO:0009562 {source="MESH:D020364", source="MONDO:Redundant", source="NCIT:C3981"} ! polyneuropathy is_a: MONDO:0018215 ! paraneoplastic neurologic syndrome intersection_of: EFO:0009562 ! polyneuropathy intersection_of: MONDO:0021073 ! paraneoplastic syndrome relationship: EFO:0000784 CL:0000100 ! has_disease_location motor neuron property_value: closeMatch http://identifiers.org/meddra/10062289 property_value: exactMatch DOID:8681 property_value: exactMatch http://identifiers.org/mesh/D020364 property_value: exactMatch http://identifiers.org/snomedct/77659000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270932 property_value: exactMatch NCIT:C3981 property_value: excluded_subClassOf MONDO:0002336 {source="DOID:8681"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001086 name: paraphimosis def: "A condition in which the foreskin of an uncircumcised male is retracted and cannot be pulled back over the glans penis. It results in painful swelling of the glans penis and, if is not corrected, may lead to gangrene." [NCIT:P378] def: "A condition in which the FORESKIN, once retracted, cannot return to its original position. If this condition persists, it can lead to painful constriction of GLANS PENIS, swelling, and impaired blood flow to the penis." [] synonym: "Paraphimosis" EXACT [] synonym: "paraphimosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Paraphimosis (disorder)" EXACT [] xref: DOID:5334 {source="EFO:1001086", source="MONDO:equivalentTo"} xref: ICD10CM:N47.2 {source="DOID:5334", source="MONDO:equivalentTo"} xref: MedDRA:10033890 {source="EFO:1001086"} xref: MESH:D010263 {source="EFO:1001086", source="DOID:5334", source="MONDO:equivalentTo"} xref: MeSH:D010263 xref: MONDO:0006889 xref: NCIT:C34893 {source="EFO:1001086", source="DOID:5334", source="MONDO:equivalentTo"} xref: NCIt:C34893 xref: SCTID:13758004 {source="EFO:1001086", source="DOID:5334", source="MONDO:equivalentTo"} xref: SNOMEDCT:13758004 xref: UMLS:C0030483 {source="DOID:5334", source="MONDO:equivalentTo", source="NCIT:C34893"} is_a: EFO:1001104 {source="DOID:5334", source="MESH:D010263"} ! phimosis property_value: closeMatch http://identifiers.org/meddra/10033890 property_value: exactMatch DOID:5334 property_value: exactMatch http://identifiers.org/mesh/D010263 property_value: exactMatch http://identifiers.org/snomedct/13758004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030483 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/N47.2 property_value: exactMatch NCIT:C34893 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001087 name: parathyroid adenoma def: "A benign tumor arising from the parenchymal cells of the parathyroid glands. In the vast majority of cases, the tumor involves a single parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. It is usually surrounded by a well-defined capsule. Capsular invasion, vascular invasion, and perineural invasion are absent." [NCIT:C3916] synonym: "adenoma of parathyroid" EXACT [DOID:7608, NCIT:C3916] synonym: "adenoma of parathyroid gland" EXACT [NCIT:C3916] synonym: "adenoma of the parathyroid" EXACT [NCIT:C3916] synonym: "adenoma of the parathyroid gland" EXACT [DOID:7608, NCIT:C3916] synonym: "parathyroid adenoma" EXACT [MONDO:ambiguous, NCIT:C3916] synonym: "parathyroid gland adenoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "parathyroid gland adenoma" EXACT [] {comment="preferred label from MONDO"} synonym: "parathyroid gland adenoma" EXACT [MONDO:patterns/location, NCIT:C3916] xref: DOID:7608 {source="EFO:1001087", source="MONDO:equivalentTo"} xref: EFO:1001087 {source="MONDO:equivalentTo"} xref: HP:0002897 {source="MONDO:otherHierarchy"} xref: MedDRA:10033940 {source="EFO:1001087"} xref: MONDO:0006890 xref: NCIT:C156757 {source="MONDO:equivalentTo"} xref: NCIT:C3916 {source="MONDO:equivalentObsolete", source="DOID:7608"} xref: NCIT:C3916 {source="MONDO:equivalentTo", source="DOID:7608"} xref: SCTID:128474007 {source="EFO:1001087", source="MONDO:equivalentTo", source="DOID:7608"} xref: UMLS:C0262587 {source="NCIT:C3916", source="MONDO:equivalentTo", source="DOID:7608"} is_a: EFO:0000232 {source="DOID:7608", source="MONDO:Redundant", source="NCIT:C3916"} ! adenoma is_a: MONDO:0021463 {source="MONDO:Redundant", source="NCIT:C3916"} ! benign neoplasm of parathyroid gland is_a: MONDO:0036976 ! benign epithelial neoplasm property_value: closeMatch http://identifiers.org/meddra/10033940 property_value: closeMatch http://identifiers.org/meddra/10033940 property_value: closeMatch http://identifiers.org/mesh/D010282 property_value: exactMatch DOID:7608 property_value: exactMatch DOID:7608 property_value: exactMatch http://identifiers.org/snomedct/128474007 property_value: exactMatch http://identifiers.org/snomedct/128474007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0262587 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0262587 property_value: exactMatch NCIT:C156757 property_value: exactMatch NCIT:C3916 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/adenoma.yaml [Term] id: EFO:1001088 name: pars planitis def: "An inflammatory disorder of the cilliary body in the uvea that affects healthy, younger individuals who are often asymptomatic. It has a long clinical course with relapses and remissions. Symptoms include mildly decreased vision and floaters. It may be associated with autoimmune disorders." [NCIT:P378] def: "Form of granulomatous uveitis occurring in the region of the pars plana. This disorder is a common condition with no detectable focal pathology. It causes fibrovascular proliferation at the inferior ora serrata." [] synonym: "familial pars planitis (subtype)" RELATED [GARD:0007339] synonym: "inflammation of pars plana of ciliary body" EXACT [] synonym: "pars plana of ciliary body inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "pars plana of ciliary bodyitis" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "Pars Planitis" EXACT [] synonym: "pars planitis" EXACT [OMIM:606177] synonym: "pars planitis" EXACT [] {comment="preferred label from MONDO"} synonym: "peripheral retinal inflammation" RELATED [GARD:0007339] synonym: "Posterior cyclitis" EXACT [] synonym: "posterior cyclitis" EXACT [DOID:12731] xref: DOID:12731 {source="EFO:1001088", source="MONDO:equivalentTo"} xref: ICD9:363.21 {source="DOID:12731"} xref: MedDRA:10034052 {source="EFO:1001088"} xref: MESH:D015868 {source="EFO:1001088", source="MONDO:equivalentTo", source="DOID:12731"} xref: MeSH:D015868 xref: MONDO:0011644 xref: NCIT:C34903 {source="EFO:1001088", source="MONDO:equivalentTo", source="DOID:12731"} xref: NCIt:C34903 xref: OMIM:606177 {source="EFO:1001088", source="MONDO:equivalentTo", source="DOID:12731"} xref: SCTID:314428001 {source="MONDO:equivalentTo", source="DOID:12731"} xref: SNOMEDCT:45688009 xref: UMLS:C0030593 {source="NCIT:C34903", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:606177", source="DOID:12731"} is_a: EFO:1000986 {source="DOID:12731", source="EFO:1001088", source="MESH:D015868"} ! intermediate uveitis is_a: MONDO:0002970 ! ciliary body disorder is_a: MONDO:0004674 {source="DOID:12731"} ! chorioretinitis property_value: closeMatch http://identifiers.org/meddra/10034052 property_value: exactMatch DOID:12731 property_value: exactMatch http://identifiers.org/mesh/D015868 property_value: exactMatch http://identifiers.org/snomedct/314428001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030593 property_value: exactMatch https://omim.org/entry/606177 property_value: exactMatch NCIT:C34903 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001089 name: partial motor epilepsy def: "A disorder characterized by recurrent localized paroxysmal discharges of cerebral neurons that give rise to seizures that have motor manifestations. The majority of partial motor seizures originate in the FRONTAL LOBE (see also EPILEPSY, FRONTAL LOBE). Motor seizures may manifest as tonic or clonic movements involving the face, one limb or one side of the body. A variety of more complex patterns of movement, including abnormal posturing of extremities, may also occur." [] def: "A simple partial seizure consisting of clonus or spasm of a muscle or muscle group; it may be single or in a continuous and repetitive series or may spread to adjacent muscles." [NCIT:P378] synonym: "epilepsy, focal motor" EXACT [DOID:3327] synonym: "epilepsy, focal motor NOS" EXACT [] synonym: "Epilepsy, Partial, Motor" EXACT [] synonym: "focal motor seizure" EXACT [DOID:3327] synonym: "Focal motor seizure (disorder)" EXACT [] synonym: "Focal motor seizure, NOS" EXACT [] synonym: "partial motor epilepsy" EXACT [] {comment="preferred label from MONDO"} xref: DOID:3327 {source="EFO:1001089", source="MONDO:equivalentTo"} xref: ICD9:780.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D020938 {source="EFO:1001089", source="MONDO:equivalentTo", source="DOID:3327"} xref: MeSH:D020938 xref: MONDO:0006891 xref: SCTID:128612007 {source="MONDO:equivalentTo", source="DOID:3327"} is_a: EFO:0004263 {source="DOID:3327", source="EFO:1001089", source="MESH:D020938"} ! partial epilepsy property_value: exactMatch DOID:3327 property_value: exactMatch http://identifiers.org/mesh/D020938 property_value: exactMatch http://identifiers.org/snomedct/128612007 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001090 name: partial sensory epilepsy def: "A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (EPILEPSY, COMPLEX PARTIAL)." [] def: "A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (epilepsy, complex partial)." [MESH:D020937] synonym: "Epilepsy, Partial, Sensory" EXACT [] synonym: "partial sensory epilepsy" EXACT [] {comment="preferred label from MONDO"} xref: DOID:3330 {source="MONDO:equivalentTo", source="EFO:1001090"} xref: MESH:D020937 {source="DOID:3330", source="MONDO:equivalentTo", source="EFO:1001090"} xref: MeSH:D020937 xref: MONDO:0006892 is_a: EFO:0004263 {source="DOID:3330", source="EFO:1001090", source="MESH:D020937"} ! partial epilepsy property_value: exactMatch DOID:3330 property_value: exactMatch http://identifiers.org/mesh/D020937 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001091 name: Pasteurella hemorrhagic septicemia def: "Any of several bacterial diseases, usually caused by PASTEURELLA MULTOCIDA, marked by the presence of hemorrhagic areas in the subcutaneous tissues, serous membranes, muscles, lymph glands, and throughout the internal organs. The diseases primarily affect animals and rarely humans." [] def: "Any of several bacterial diseases, usually caused by pasteurella multocida, marked by the presence of hemorrhagic areas in the subcutaneous tissues, serous membranes, muscles, lymph glands, and throughout the internal organs. The diseases primarily affect animals and rarely humans." [MESH:D006483] synonym: "bacteremia, haemorrhagic" RELATED [MESH:D006483] synonym: "bacteremia, hemorrhagic" RELATED [MESH:D006483] synonym: "haemorrhagic bacteremia" RELATED [MESH:D006483] synonym: "haemorrhagic Septicaemia" RELATED [MESH:D006483] synonym: "haemorrhagic septicemia" RELATED [MESH:D006483] synonym: "hemorrhagic bacteremia" RELATED [MESH:D006483] synonym: "hemorrhagic Septicaemia" RELATED [MESH:D006483] synonym: "Hemorrhagic Septicemia" EXACT [] synonym: "hemorrhagic septicemia" EXACT [] synonym: "Pasteurella hemorrhagic septicemia" EXACT [] {comment="preferred label from MONDO"} synonym: "Septicaemia, haemorrhagic" RELATED [MESH:D006483] synonym: "Septicaemia, hemorrhagic" RELATED [MESH:D006483] synonym: "septicemia, haemorrhagic" RELATED [MESH:D006483] synonym: "septicemia, hemorrhagic" RELATED [MESH:D006483] xref: DOID:11056 xref: MESH:D006483 {source="MONDO:equivalentTo", source="EFO:1001091"} xref: MeSH:D006483 xref: MONDO:0006893 xref: SCTID:198462004 {source="MONDO:equivalentTo", source="EFO:1001091"} xref: SNOMEDCT:198462004 is_a: EFO:0003033 ! bacteriemia is_a: MONDO:0040998 ! Pasteurella multocida infectious disease property_value: exactMatch http://identifiers.org/mesh/D006483 property_value: exactMatch http://identifiers.org/snomedct/198462004 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001092 name: patellofemoral pain syndrome def: "A syndrome characterized by retropatellar or peripatellar PAIN resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) CHONDROMALACIA PATELLAE, the latter describing a pathological condition of the CARTILAGE and not a syndrome." [] def: "A syndrome characterized by retropatellar or peripatellar pain resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) chondromalacia patellae, the latter describing a pathological condition of the cartilage and not a syndrome." [MESH:D046788] synonym: "Patellofemoral Pain Syndrome" EXACT [] synonym: "patellofemoral pain syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "patellofemoral stress syndrome" EXACT [] xref: DOID:14284 {source="MONDO:equivalentTo", source="EFO:1001092"} xref: MedDRA:10049143 {source="EFO:1001092"} xref: MESH:D046788 {source="MONDO:equivalentTo", source="DOID:14284", source="EFO:1001092"} xref: MeSH:D046788 xref: MONDO:0006894 xref: SCTID:430725003 {source="MONDO:equivalentTo", source="EFO:1001092"} xref: SNOMEDCT:430725003 xref: UMLS:C0877149 {source="MONDO:equivalentTo", source="DOID:14284"} is_a: EFO:1000999 {source="DOID:14284", source="EFO:1001092", source="MESH:D046788"} ! joint disease property_value: closeMatch http://identifiers.org/meddra/10049143 property_value: exactMatch DOID:14284 property_value: exactMatch http://identifiers.org/mesh/D046788 property_value: exactMatch http://identifiers.org/snomedct/430725003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0877149 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001093 name: Pelger-Huet anomaly def: "An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear." [NCIT:P378] def: "Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures." [] synonym: "ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities" RELATED [GARD:0009148] synonym: "Pelger Huet anomaly" RELATED [GARD:0009148] synonym: "Pelger-Huet Anomaly" EXACT [] synonym: "Pelger-Huet anomaly" EXACT [MONDO:Lexical, OMIM:169400] synonym: "Pelger-Huet anomaly" EXACT [] {comment="preferred label from MONDO"} synonym: "Pelger-Huet nuclear anomaly" RELATED [GARD:0009148] synonym: "PHA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:169400] xref: DOID:9631 {source="MONDO:equivalentTo", source="EFO:1001093"} xref: MedDRA:10029377 {source="EFO:1001093"} xref: MESH:D010381 {source="MONDO:equivalentTo", source="EFO:1001093", source="DOID:9631"} xref: MeSH:D010381 xref: MONDO:0008214 xref: NCIT:C85002 {source="MONDO:equivalentTo", source="EFO:1001093", source="DOID:9631"} xref: NCIt:C85002 xref: OMIM:169400 {source="MONDO:equivalentTo", source="DOID:9631"} xref: SCTID:85559002 {source="MONDO:equivalentTo", source="DOID:9631"} xref: UMLS:C0030779 {source="MONDO:equivalentTo", source="OMIM:169400", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C85002", source="DOID:9631"} is_a: MONDO:0000426 {source="DOID:9631", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy property_value: closeMatch http://identifiers.org/meddra/10029377 property_value: exactMatch DOID:9631 property_value: exactMatch http://identifiers.org/mesh/D010381 property_value: exactMatch http://identifiers.org/snomedct/85559002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030779 property_value: exactMatch https://omim.org/entry/169400 property_value: exactMatch NCIT:C85002 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001094 name: penile neoplasm def: "A benign, borderline, or malignant neoplasm that affects the penis. Representative examples include penile hemangioma, penile intraepithelial neoplasia, and penile carcinoma." [NCIT:C3317] synonym: "neoplasm of penis" EXACT [MONDO:patterns/neoplasm, NCIT:C3317] synonym: "neoplasm of the penis" EXACT [NCIT:C3317] synonym: "penile neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "penile neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "penile neoplasm" EXACT [NCIT:C3317] synonym: "penile neoplasms" EXACT [NCIT:C3317] synonym: "penile tumor" EXACT [DOID:11624, NCIT:C3317] synonym: "penile tumour" EXACT OMO:0003005 [] synonym: "penis neoplasm" EXACT [] synonym: "penis neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "penis tumor" EXACT [MONDO:patterns/neoplasm] synonym: "penis tumour" EXACT OMO:0003005 [] synonym: "tumor of penis" EXACT [MONDO:patterns/neoplasm, NCIT:C3317] synonym: "tumor of the penis" EXACT [NCIT:C3317] synonym: "tumour of penis" EXACT OMO:0003005 [] synonym: "tumour of the penis" EXACT OMO:0003005 [] xref: DOID:11624 {source="MONDO:equivalentTo", source="EFO:1001094"} xref: EFO:1001094 {source="MONDO:equivalentTo"} xref: ICD9:239.5 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10061913 {source="EFO:1001094"} xref: MESH:D010412 {source="DOID:11624", source="MONDO:equivalentTo", source="EFO:1001094"} xref: MONDO:0006895 xref: NCIT:C3317 {source="DOID:11624", source="MONDO:equivalentTo", source="EFO:1001094"} xref: ONCOTREE:PENIS {source="MONDO:equivalentTo"} xref: SCTID:126896003 {source="DOID:11624", source="MONDO:equivalentTo"} xref: UMLS:C0030849 {source="DOID:11624", source="MONDO:equivalentTo", source="NCIT:C3317"} is_a: MONDO:0002036 {source="DOID:11624", source="MESH:D010412", source="MONDO:Redundant", source="NCIT:C3317"} ! penile disorder is_a: MONDO:0024582 ! male reproductive system neoplasm property_value: closeMatch http://identifiers.org/meddra/10061913 property_value: closeMatch http://identifiers.org/meddra/10061913 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0030851 property_value: closeMatch NCIT:C12409 property_value: exactMatch DOID:11624 property_value: exactMatch DOID:11624 property_value: exactMatch http://identifiers.org/mesh/D010412 property_value: exactMatch http://identifiers.org/mesh/D010412 property_value: exactMatch http://identifiers.org/snomedct/126896003 property_value: exactMatch http://identifiers.org/snomedct/126896003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030849 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030849 property_value: exactMatch NCIT:C3317 property_value: exactMatch NCIT:C3317 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/neoplasm.yaml [Term] id: EFO:1001095 name: peptic esophagitis def: "INFLAMMATION of the ESOPHAGUS that is caused by the reflux of GASTRIC JUICE with contents of the STOMACH and DUODENUM." [] def: "Inflammation of the esophagus that is caused by the reflux of gastric juice with contents of the stomach and duodenum." [MESH:D004942] synonym: "Esophagitis (& [reflux]) or esophageal reflux" EXACT [] synonym: "Esophagitis, Peptic" EXACT [] synonym: "Peptic esophagitis" EXACT [] synonym: "peptic esophagitis" EXACT [] {comment="preferred label from MONDO"} synonym: "peptic esophagitis" EXACT [DOID:13976] synonym: "peptic reflux disease" EXACT [DOID:13976] synonym: "Peptic reflux disease (disorder)" EXACT [] synonym: "Reflux esophagitis" EXACT [] synonym: "reflux esophagitis" EXACT [DOID:13976] synonym: "Reflux oesophagitis" EXACT [] synonym: "reflux oesophagitis" EXACT [DOID:13976] xref: DOID:13976 {source="MONDO:equivalentTo", source="EFO:1001095"} xref: ICD9:530.11 {source="DOID:13976"} xref: MESH:D004942 {source="DOID:13976", source="MONDO:equivalentTo", source="EFO:1001095"} xref: MeSH:D004942 xref: MONDO:0006896 xref: SCTID:57643001 {source="DOID:13976", source="MONDO:equivalentTo", source="EFO:1001095"} xref: SNOMEDCT:57643001 xref: UMLS:C0014869 {source="DOID:13976", source="MONDO:equivalentTo"} is_a: MONDO:0001409 {source="DOID:13976", source="MESH:D004942"} ! esophagitis is_a: MONDO:0004247 {source="DOID:13976", source="MESH:D004942"} ! peptic ulcer disease is_a: MONDO:0044782 ! esophageal ulcer property_value: exactMatch DOID:13976 property_value: exactMatch http://identifiers.org/mesh/D004942 property_value: exactMatch http://identifiers.org/snomedct/57643001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014869 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001096 name: periapical granuloma def: "Chronic nonsuppurative inflammation of periapical tissue resulting from irritation following pulp disease or endodontic treatment." [MESH:D010484] synonym: "apical granuloma" EXACT [DOID:4617] synonym: "Apical granuloma (disorder)" EXACT [] synonym: "Periapical Granuloma" EXACT [] synonym: "Periapical granuloma" EXACT [] synonym: "periapical granuloma" EXACT [DOID:4617] synonym: "periapical granuloma" EXACT [] {comment="preferred label from MONDO"} xref: DOID:4617 {source="EFO:1001096", source="MONDO:equivalentTo"} xref: MedDRA:10060985 {source="EFO:1001096"} xref: MESH:D010484 {source="EFO:1001096", source="MONDO:equivalentTo", source="DOID:4617"} xref: MeSH:D010484 xref: MONDO:0006897 xref: SCTID:81407003 {source="MONDO:equivalentTo", source="DOID:4617"} xref: UMLS:C0031029 {source="MONDO:equivalentTo", source="DOID:4617"} is_a: EFO:1001391 {source="DOID:4617", source="MESH:D010484"} ! Periapical Periodontitis relationship: RO:0000056 GO:0006954 ! participates_in inflammatory response property_value: closeMatch http://identifiers.org/meddra/10060985 property_value: exactMatch DOID:4617 property_value: exactMatch http://identifiers.org/mesh/D010484 property_value: exactMatch http://identifiers.org/snomedct/81407003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031029 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001097 name: periarthritis def: "Inflammation of the tissues around a joint. (Dorland, 27th ed)" [MESH:D010489] synonym: "Periarthritis" EXACT [] synonym: "periarthritis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:2964 {source="EFO:1001097", source="MONDO:equivalentTo"} xref: MedDRA:10034464 {source="EFO:1001097"} xref: MESH:D010489 {source="EFO:1001097", source="MONDO:equivalentTo", source="DOID:2964"} xref: MeSH:D010489 xref: MONDO:0006898 xref: SCTID:50921008 {source="EFO:1001097", source="MONDO:equivalentTo", source="DOID:2964"} xref: SNOMEDCT:50921008 xref: UMLS:C0031037 {source="MONDO:equivalentTo", source="DOID:2964"} is_a: EFO:0005856 {source="EFO:1001097", source="MESH:D010489"} ! arthritis is_a: MONDO:0002471 {source="DOID:2964", source="MESH:D010489"} ! bursitis property_value: closeMatch http://identifiers.org/meddra/10034464 property_value: exactMatch DOID:2964 property_value: exactMatch http://identifiers.org/mesh/D010489 property_value: exactMatch http://identifiers.org/snomedct/50921008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031037 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001098 name: pericoronitis def: "Inflammation of the gingiva surrounding the crown of a tooth." [MESH:D010497] synonym: "Pericoronitis" EXACT [] synonym: "pericoronitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Pericoronitis (disorder)" EXACT [] xref: DOID:3671 {source="EFO:1001098", source="MONDO:equivalentTo"} xref: MedDRA:10034504 {source="EFO:1001098"} xref: MESH:D010497 {source="DOID:3671", source="EFO:1001098", source="MONDO:equivalentTo"} xref: MeSH:D010497 xref: MONDO:0006899 xref: SCTID:22240003 {source="DOID:3671", source="EFO:1001098", source="MONDO:equivalentTo"} xref: SNOMEDCT:22240003 xref: UMLS:C0031055 {source="DOID:3671", source="MONDO:equivalentTo"} is_a: EFO:0000649 {source="EFO:1001098"} ! periodontitis is_a: EFO:0009670 {source="DOID:3671", source="MESH:D010497"} ! gingival disease relationship: RO:0000056 GO:0006954 ! participates_in inflammatory response property_value: closeMatch http://identifiers.org/meddra/10034504 property_value: exactMatch DOID:3671 property_value: exactMatch http://identifiers.org/mesh/D010497 property_value: exactMatch http://identifiers.org/snomedct/22240003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031055 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001099 name: perinephritis def: "Inflammation of the connective and adipose tissues surrounding the KIDNEY." [] def: "Inflammation of the connective and adipose tissues surrounding the kidney." [MESH:D010501] synonym: "inflammation of perirenal fat" EXACT [] synonym: "Perinephritis" EXACT [] synonym: "perinephritis" EXACT [] {comment="preferred label from MONDO"} synonym: "Perinephritis (disorder)" EXACT [] synonym: "perirenal fat inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:2982 {source="EFO:1001099", source="MONDO:equivalentTo"} xref: MedDRA:10072058 {source="EFO:1001099"} xref: MESH:D010501 {source="EFO:1001099", source="DOID:2982", source="MONDO:equivalentTo"} xref: MeSH:D010501 xref: MONDO:0006900 xref: SCTID:111404004 {source="EFO:1001099", source="DOID:2982", source="MONDO:equivalentTo"} xref: SNOMEDCT:111404004 xref: UMLS:C0031065 {source="DOID:2982", source="MONDO:equivalentTo"} is_a: EFO:0003086 {source="DOID:2982", source="EFO:1001099", source="MESH:D010501"} ! kidney disease is_a: EFO:0009903 {source="MONDO:Redundant"} ! inflammatory disease property_value: closeMatch http://identifiers.org/meddra/10072058 property_value: exactMatch DOID:2982 property_value: exactMatch http://identifiers.org/mesh/D010501 property_value: exactMatch http://identifiers.org/snomedct/111404004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031065 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001100 name: peritoneal neoplasm def: "A benign or malignant neoplasm that affects the peritoneal cavity. Representative examples of benign neoplasms include adenomatoid tumor and disseminated peritoneal leiomyomatosis. Representative examples of malignant neoplasms include primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma." [NCIT:C3322] synonym: "neoplasm of peritoneum" EXACT [MONDO:patterns/neoplasm] synonym: "peritoneal neoplasm" EXACT [NCIT:C3322] synonym: "peritoneal neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "peritoneal neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "peritoneum neoplasm" EXACT [] synonym: "peritoneum neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "peritoneum tumor" EXACT [MONDO:patterns/neoplasm] synonym: "peritoneum tumour" EXACT OMO:0003005 [] synonym: "tumor of peritoneum" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of peritoneum" EXACT OMO:0003005 [] xref: EFO:1001100 {source="MONDO:equivalentTo"} xref: MedDRA:10061344 {source="EFO:1001100"} xref: MESH:D010534 {source="EFO:1001100", source="MONDO:equivalentTo"} xref: MONDO:0006901 xref: NCIT:C3322 {source="EFO:1001100", source="MONDO:equivalentTo"} xref: SCTID:126865007 {source="MONDO:equivalentTo"} is_a: EFO:0000616 {source="EFO:1001100", source="MESH:D010534/inferred", source="MONDO:Redundant", source="NCIT:C3322/inferred"} ! neoplasm is_a: EFO:0009541 ! disease of peritoneum property_value: closeMatch DOID:4884 property_value: closeMatch http://identifiers.org/meddra/10061344 property_value: closeMatch http://identifiers.org/meddra/10061344 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0031149 property_value: exactMatch http://identifiers.org/mesh/D010534 property_value: exactMatch http://identifiers.org/mesh/D010534 property_value: exactMatch http://identifiers.org/snomedct/126865007 property_value: exactMatch http://identifiers.org/snomedct/126865007 property_value: exactMatch NCIT:C3322 property_value: exactMatch NCIT:C3322 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/neoplasm.yaml [Term] id: EFO:1001101 name: periventricular leukomalacia def: "Degeneration of white matter adjacent to the CEREBRAL VENTRICLES following cerebral hypoxia or BRAIN ISCHEMIA in neonates. The condition primarily affects white matter in the perfusion zone between superficial and deep branches of the MIDDLE CEREBRAL ARTERY. Clinical manifestations include VISION DISORDERS; CEREBRAL PALSY; PARAPLEGIA; SEIZURES; and cognitive disorders. (From Adams et al., Principles of Neurology, 6th ed, p1021; Joynt, Clinical Neurology, 1997, Ch4, pp30-1)" [] def: "Periventricular leukomalacia (PVL) is a brain injury disorder characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns, and premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to thearea around the ventricles of the brain, which results in the death of brain tissue. Although babies with PVL generally have no apparent signs or symptoms of the disorder at delivery, they are at risk for motor disorders, cerebral palsy, delayed mental development, coordination problems, and vision and hearing impairments. There is no cure for PVL. Treatment is generally supportive. Prognosis is dependent on the extent of damage to the ventricles." [https://rarediseases.info.nih.gov/diseases/10285/periventricular-leukomalacia] subset: gard_rare {source="GARD:0010285"} subset: ordo_disease {source="Orphanet:171676"} synonym: "Leukomalacia, Periventricular" EXACT [] synonym: "Periventricular leucomalacia (disorder)" EXACT [] synonym: "Periventricular leukomalacia" EXACT [] synonym: "periventricular leukomalacia" EXACT [] {comment="preferred label from MONDO"} synonym: "PVL" RELATED ABBREVIATION [GARD:0010285] xref: DOID:13088 {source="EFO:1001101", source="MONDO:equivalentTo"} xref: ICD9:742.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:779.7 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13088"} xref: MedDRA:10052594 {source="Orphanet:171676/e", source="EFO:1001101", source="Orphanet:171676"} xref: MESH:D007969 {source="Orphanet:171676/e", source="EFO:1001101", source="MONDO:equivalentTo", source="DOID:13088", source="Orphanet:171676"} xref: MeSH:D007969 xref: MONDO:0015742 xref: NCIT:C99013 {source="EFO:1001101", source="MONDO:equivalentTo", source="DOID:13088"} xref: NCIt:C99013 xref: Orphanet:171676 {source="MONDO:equivalentObsolete"} xref: SCTID:230769007 {source="EFO:1001101", source="MONDO:equivalentTo", source="DOID:13088"} xref: SNOMEDCT:230769007 xref: UMLS:C0023529 {source="Orphanet:171676/e", source="MONDO:equivalentTo", source="DOID:13088", source="NCIT:C99013", source="Orphanet:171676"} is_a: EFO:1000915 {source="DOID:13088", source="MESH:D007969", source="NCIT:C99013"} ! encephalomalacia relationship: has_characteristic MONDO:0021136 {source="MONDO:0020009"} ! rare property_value: closeMatch http://identifiers.org/meddra/10052594 property_value: exactMatch DOID:13088 property_value: exactMatch http://identifiers.org/mesh/D007969 property_value: exactMatch http://identifiers.org/snomedct/230769007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023529 property_value: exactMatch NCIT:C99013 property_value: IAO:0000117 "Dani Welter" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10285/periventricular-leukomalacia xsd:anyURI {source="GARD:0010285"} [Term] id: EFO:1001102 name: peroneal nerve paralysis def: "Disease involving the common PERONEAL NERVE or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with PARALYSIS of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the FIBULA is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31)" [] def: "Paralysis of the nerves located in the legs." [NCIT:P378] synonym: "nerve palsy, peroneal" EXACT [NCIT:C27061] synonym: "palsy, peroneal nerve" EXACT [NCIT:C27061] synonym: "Peroneal nerve palsy" EXACT [] synonym: "peroneal nerve palsy" EXACT [DOID:6925] synonym: "peroneal nerve paralysis" EXACT [] {comment="preferred label from MONDO"} synonym: "Peroneal Neuropathies" EXACT [] xref: DOID:6925 {source="MONDO:equivalentTo", source="EFO:1001102"} xref: MedDRA:10033828 {source="EFO:1001102"} xref: MESH:D020427 {source="MONDO:relatedTo", source="EFO:1001102", source="DOID:6925"} xref: MeSH:D020427 xref: MONDO:0006903 xref: NCIT:C27061 {source="MONDO:equivalentTo", source="EFO:1001102", source="DOID:6925"} xref: NCIt:C27061 xref: SCTID:399088004 {source="MONDO:equivalentTo", source="EFO:1001102"} xref: SNOMEDCT:399088004 xref: UMLS:C0270810 {source="MONDO:equivalentTo", source="DOID:6925", source="NCIT:C27061"} is_a: EFO:0009387 {source="DOID:6925", source="NCIT:C27061/inferred"} ! peripheral nervous system disease property_value: closeMatch http://identifiers.org/meddra/10033828 property_value: exactMatch DOID:6925 property_value: exactMatch http://identifiers.org/snomedct/399088004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270810 property_value: exactMatch NCIT:C27061 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001103 name: persistent fetal circulation syndrome def: "A cardiopulmonary disorder characterized by systemic arterial hypoxemia secondary to pulmonary hypertension and extrapulmonary right to left shunting across the foramen ovale and ductus arteriosus." [NCIT:C85006] def: "A syndrome of persistent PULMONARY HYPERTENSION in the newborn infant (INFANT, NEWBORN) without demonstrable HEART DISEASES. This neonatal condition can be caused by severe pulmonary vasoconstriction (reactive type), hypertrophy of pulmonary arterial muscle (hypertrophic type), or abnormally developed pulmonary arterioles (hypoplastic type). The newborn patient exhibits CYANOSIS and ACIDOSIS due to the persistence of fetal circulatory pattern of right-to-left shunting of blood through a patent ductus arteriosus (DUCTUS ARTERIOSUS, PATENT) and at times a patent foramen ovale (FORAMEN OVALE, PATENT)." [] comment: Editor note: consider relationship to MONDO:0009934 synonym: "congenital alveolar capillary dysplasia with misalignment of pulmonary veins" EXACT [] synonym: "Fetal circulation" EXACT [] synonym: "Persistent fetal circulation" EXACT [] synonym: "persistent fetal circulation" EXACT [NCIT:C85006] synonym: "Persistent fetal circulation (disorder)" EXACT [] synonym: "Persistent Fetal Circulation Syndrome" EXACT [] synonym: "persistent fetal circulation syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Persistent fetal circulation syndrome (disorder)" EXACT [] synonym: "persistent foetal circulation" EXACT OMO:0003005 [] synonym: "persistent pulmonary hypertension of the newborn" EXACT [NCIT:C85006] synonym: "Persistent pulmonary hypertension of the newborn (disorder)" EXACT [] synonym: "PPHN" EXACT ABBREVIATION [NCIT:C85006] xref: DOID:13042 xref: ICD10:P29.3 xref: MedDRA:10054726 xref: MESH:D010547 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: MeSH:D010547 xref: MONDO:0022430 xref: NCIT:C85006 {source="MONDO:equivalentTo"} xref: NCIt:C85006 xref: OMIM:617035 xref: OMIM:617039 xref: SCTID:206597007 {source="MONDO:relatedTo"} xref: SCTID:233815004 {source="MONDO:equivalentTo"} xref: SCTID:35604006 {source="MONDO:relatedTo"} xref: SNOMEDCT:35604006 xref: UMLS:C0031190 {source="MONDO:relatedTo", source="NCIT:C85006"} is_a: EFO:0001361 ! pulmonary arterial hypertension is_a: EFO:0010238 ! perinatal disease is_a: MONDO:0024239 ! congenital anomaly of cardiovascular system property_value: exactMatch http://identifiers.org/mesh/D010547 property_value: exactMatch http://identifiers.org/snomedct/233815004 property_value: exactMatch NCIT:C85006 property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5537 xsd:anyURI property_value: relatedMatch http://identifiers.org/snomedct/206597007 property_value: relatedMatch http://identifiers.org/snomedct/35604006 [Term] id: EFO:1001104 name: phimosis def: "A condition in which the FORESKIN cannot be retracted to reveal the GLANS PENIS. It is due to tightness or narrowing of the foreskin opening." [] def: "A condition in which there is constriction in the tip of the foreskin resulting in inability to fully retract the foreskin over the glans penis. Causes include balanoposthitis, balanitis xerotica obliterans, and untreated diabetes." [NCIT:P378] synonym: "Phimosis" EXACT [] synonym: "phimosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Phimosis (disorder) [Ambiguous]" EXACT [] synonym: "Tight foreskin" EXACT [] synonym: "tight foreskin" EXACT [DOID:2712] synonym: "Tight foreskin (finding)" EXACT [] synonym: "Tight frenulum" EXACT [] synonym: "tight frenulum" EXACT [DOID:2712] xref: DOID:2712 {source="MONDO:equivalentTo", source="EFO:1001104"} xref: ICD10:N47 xref: ICD10CM:N47.1 {source="MONDO:equivalentTo", source="DOID:2712"} xref: MedDRA:10034878 {source="EFO:1001104"} xref: MESH:D010688 {source="MONDO:equivalentTo", source="DOID:2712", source="EFO:1001104"} xref: MeSH:D010688 xref: MONDO:0006904 xref: NCIT:C26852 {source="MONDO:equivalentTo", source="DOID:2712", source="EFO:1001104"} xref: NCIt:C26852 xref: SCTID:449826002 {source="MONDO:equivalentTo", source="DOID:2712", source="EFO:1001104"} xref: SNOMEDCT:449826002 is_a: MONDO:0002036 {source="DOID:2712", source="MESH:D010688", source="NCIT:C26852/inferred"} ! penile disorder property_value: closeMatch http://identifiers.org/meddra/10034878 property_value: exactMatch DOID:2712 property_value: exactMatch http://identifiers.org/mesh/D010688 property_value: exactMatch http://identifiers.org/snomedct/449826002 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/N47.1 property_value: exactMatch NCIT:C26852 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001105 name: pigmented spindle cell nevus def: "A benign, small and slightly elevated brown or black skin lesion with usually well-demarcated borders. It is characterized by the presence of a melanocytic proliferation resulting in the formation of uniform cellular nests. Sometimes the clinical and morphologic features may be difficult to distinguish from melanoma." [NCIT:C4751] synonym: "pigmented spindle cell nevus" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "pigmented spindle cell nevus" EXACT [] {comment="preferred label from MONDO"} synonym: "spindle cell Nevus of Reed" EXACT [NCIT:C4751] xref: EFO:1001105 {source="MONDO:equivalentTo"} xref: MESH:D018331 {source="MONDO:equivalentTo", source="EFO:1001105"} xref: MONDO:0006905 xref: NCIT:C4751 {source="MONDO:equivalentTo", source="EFO:1001105", source="exact-label-match"} xref: NCIT:C4751 {source="MONDO:equivalentTo", source="EFO:1001105", source="MONDO:exact-label-match"} xref: SCTID:254812004 {source="MONDO:equivalentTo"} is_a: EFO:0009675 {source="EFO:1001105", source="MESH:D018331/inferred", source="NCIT:C4751/inferred"} ! melanocytic nevus property_value: closeMatch DOID:3239 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0474967 property_value: exactMatch http://identifiers.org/mesh/D018331 property_value: exactMatch http://identifiers.org/mesh/D018331 property_value: exactMatch http://identifiers.org/snomedct/254812004 property_value: exactMatch http://identifiers.org/snomedct/254812004 property_value: exactMatch NCIT:C4751 property_value: exactMatch NCIT:C4751 [Term] id: EFO:1001106 name: pigmented villonodular synovitis def: "Outgrowths of synovial membrane composed of villi and fibrous nodules characterized histologically by hemosiderin- and lipid-containing macrophages and multinucleated giant cells. It usually occurs in the knee." [] synonym: "Diffuse Giant cell tumor of Tenosynovium" EXACT [] synonym: "Synovitis, Pigmented Villonodular" EXACT [] synonym: "villous tenosynovitis" EXACT [] xref: DOID:2702 xref: MedDRA:10084212 xref: MeSH:D013586 xref: SNOMEDCT:95412009 is_a: EFO:0008997 ! synovitis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001107 name: pilar sheath acanthoma def: "A benign, small, papular or nodular skin neoplasm that usually arises above the upper lip. It is characterized by an epithelial proliferation with a central cavity. The cavity wall is lined with keratinocytes." [NCIT:C4468] synonym: "acanthoma of Pilar sheath" EXACT [NCIT:C4468] synonym: "acanthoma of the Pilar sheath" EXACT [NCIT:C4468] synonym: "Infundibuloisthmicoma" EXACT [NCIT:C4468] synonym: "Pilar sheath acanthoma" EXACT [DOID:4322, NCIT:C4468] synonym: "pilar sheath acanthoma" EXACT [] {comment="preferred label from MONDO"} synonym: "pilar sheath acanthoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: DOID:4322 {source="MONDO:equivalentTo", source="EFO:1001107"} xref: EFO:1001107 {source="MONDO:equivalentTo"} xref: MedDRA:10059394 xref: MONDO:0006907 xref: NCIT:C4468 {source="DOID:4322", source="MONDO:equivalentTo", source="EFO:1001107", source="exact-label-match"} xref: NCIT:C4468 {source="DOID:4322", source="MONDO:equivalentTo", source="EFO:1001107", source="MONDO:exact-label-match"} xref: SCTID:254693008 {source="DOID:4322", source="MONDO:equivalentTo", source="EFO:1001107"} xref: UMLS:C0346005 {source="DOID:4322", source="MONDO:equivalentTo", source="NCIT:C4468"} is_a: MONDO:0002093 {source="DOID:4322", source="NCIT:C4468"} ! acanthoma property_value: exactMatch DOID:4322 property_value: exactMatch DOID:4322 property_value: exactMatch http://identifiers.org/snomedct/254693008 property_value: exactMatch http://identifiers.org/snomedct/254693008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346005 property_value: exactMatch NCIT:C4468 property_value: exactMatch NCIT:C4468 [Term] id: EFO:1001108 name: pituitary apoplexy def: "A rare, potentially life-threatening disorder caused by acute ischemic infarction or hemorrhage in the pituitary gland. It is most often associated with the presence of a pituitary gland adenoma. Signs and symptoms include headache, vomiting, visual disturbances, and endocrine dysfunction." [NCIT:P378] def: "The sudden loss of blood supply to the PITUITARY GLAND, leading to tissue NECROSIS and loss of function (PANHYPOPITUITARISM). The most common cause is hemorrhage or INFARCTION of a PITUITARY ADENOMA. It can also result from acute hemorrhage into SELLA TURCICA due to HEAD TRAUMA; INTRACRANIAL HYPERTENSION; or other acute effects of central nervous system hemorrhage. Clinical signs include severe HEADACHE; HYPOTENSION; bilateral visual disturbances; UNCONSCIOUSNESS; and COMA." [] subset: ordo_disease {source="Orphanet:95613"} synonym: "Pituitary Apoplexy" EXACT [] synonym: "pituitary apoplexy" EXACT [] {comment="preferred label from MONDO"} synonym: "Pituitary apoplexy (disorder)" EXACT [] synonym: "pituitary gland apoplexy" EXACT [NCIT:C26853] xref: DOID:1129 {source="MONDO:equivalentTo", source="EFO:1001108"} xref: ICD9:253.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10056447 {source="Orphanet:95613", source="EFO:1001108", source="Orphanet:95613/e"} xref: MESH:D010899 {source="MONDO:equivalentTo", source="Orphanet:95613", source="DOID:1129", source="EFO:1001108", source="Orphanet:95613/e"} xref: MeSH:D010899 xref: MONDO:0006908 xref: NCIT:C26853 {source="MONDO:equivalentTo", source="DOID:1129", source="EFO:1001108"} xref: NCIt:C26853 xref: Orphanet:95613 {source="MONDO:equivalentTo"} xref: SCTID:237701005 {source="MONDO:equivalentTo", source="DOID:1129", source="EFO:1001108"} xref: SNOMEDCT:237701005 xref: UMLS:C0032001 {source="MONDO:equivalentTo", source="NCIT:C26853", source="Orphanet:95613", source="DOID:1129", source="Orphanet:95613/e"} is_a: MONDO:0001259 {source="DOID:1129"} ! pituitary gland infarction is_a: MONDO:0019832 {source="Orphanet:95613"} ! acquired pituitary hormone deficiency property_value: closeMatch http://identifiers.org/meddra/10056447 property_value: exactMatch DOID:1129 property_value: exactMatch http://identifiers.org/mesh/D010899 property_value: exactMatch http://identifiers.org/snomedct/237701005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032001 property_value: exactMatch NCIT:C26853 property_value: exactMatch Orphanet:95613 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001109 name: pituitary dwarfism def: "A form of dwarfism caused by complete or partial GROWTH HORMONE deficiency, resulting from either the lack of GROWTH HORMONE-RELEASING FACTOR from the HYPOTHALAMUS or from the mutations in the growth hormone gene (GH1) in the PITUITARY GLAND. It is also known as Type I pituitary dwarfism. Human hypophysial dwarf is caused by a deficiency of HUMAN GROWTH HORMONE during development." [] def: "Proportionately decreased bodily growth due to failure of the pituitary gland to produce an adequate supply of growth hormone." [NCIT:P378] synonym: "Dwarfism, Pituitary" EXACT [] synonym: "Dwarfism: [pituitary] or [hypophyseal (& Lorain-Levi)]" EXACT [] synonym: "hypopituitary dwarfism" EXACT [] synonym: "Lorain - Levi dwarfism" EXACT [] synonym: "pituitary dwarfism" EXACT [] {comment="preferred label from MONDO"} xref: DOID:9405 xref: ICD9:253.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:1001109"} xref: MedDRA:10035083 {source="EFO:1001109"} xref: MESH:D004393 {source="MONDO:equivalentTo", source="EFO:1001109"} xref: MeSH:D004393 xref: MONDO:0006909 xref: NCIt:C34555 xref: SCTID:367460001 {source="MONDO:equivalentTo", source="EFO:1001109"} xref: SNOMEDCT:367460001 xref: UMLS:C0013338 {source="MONDO:equivalentTo"} is_a: EFO:0005539 {source="EFO:1001109"} ! adrenal gland disease is_a: EFO:0009386 ! central nervous system disease property_value: closeMatch http://identifiers.org/meddra/10035083 property_value: exactMatch http://identifiers.org/mesh/D004393 property_value: exactMatch http://identifiers.org/snomedct/367460001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013338 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001110 name: pituitary-dependent Cushing's disease def: "A disease of the PITUITARY GLAND characterized by the excess amount of ADRENOCORTICOTROPIC HORMONE secreted. This leads to hypersecretion of cortisol (HYDROCORTISONE) by the ADRENAL GLANDS resulting in CUSHING SYNDROME." [] def: "Adrenocorticotropic hormone dependent Cushing syndrome (ACTH-dependent CS) is a form of endogenous CS caused by abnormal production of ACTH due, in 80% of cases, to ACTH oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH)." [Orphanet:99892] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:99892"} synonym: "ACTH hypersecretion, pituitary" RELATED [MESH:D047748] synonym: "ACTH-dependent CS" EXACT [Orphanet:99892] synonym: "ACTH-dependent Cushing syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "adrenocorticotropic hormone, inappropriate secretion" RELATED [MESH:D047748] synonym: "adrenocorticotropic hormone-dependent Cushing syndrome" EXACT [Orphanet:99892] synonym: "corticotropin-dependent Cushing syndrome" EXACT [Orphanet:99892] synonym: "Overproduction of ACTH" EXACT [] synonym: "overproduction of ACTH" EXACT [DOID:3946] synonym: "Pituitary ACTH Hypersecretion" EXACT [] synonym: "pituitary Cushing disease" RELATED [MESH:D047748] synonym: "pituitary Cushing diseases" RELATED [MESH:D047748] synonym: "pituitary Cushing syndrome" RELATED [MESH:D047748] synonym: "pituitary-dependent Cushing disease" EXACT [DOID:3946] synonym: "pituitary-dependent Cushing's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] xref: DOID:3946 {source="EFO:1001110", source="MONDO:equivalentTo"} xref: ICD10:E24.0 xref: ICD10CM:E24.0 {source="EFO:1001110", source="MONDO:equivalentTo", source="Orphanet:99892/ntbt", source="DOID:3946", source="Orphanet:99892", source="MONDO:directSiblingOf"} xref: MedDRA:10035109 {source="EFO:1001110"} xref: MESH:D047748 {source="EFO:1001110", source="MONDO:equivalentTo", source="DOID:3946"} xref: MeSH:D047748 xref: MONDO:0020528 xref: NCIT:C113210 {source="MONDO:relatedTo", source="DOID:3946"} xref: Orphanet:99892 {source="MONDO:equivalentTo"} xref: SCTID:190502001 {source="EFO:1001110", source="MONDO:equivalentTo", source="DOID:3946"} xref: SCTID:237734007 {source="MONDO:equivalentTo"} xref: SNOMEDCT:190502001 xref: UMLS:C0221406 {source="MONDO:relatedTo", source="DOID:3946"} xref: UMLS:C0342442 {source="Orphanet:99892/e", source="MONDO:equivalentTo", source="Orphanet:99892"} is_a: EFO:0003099 {source="EFO:1001110", source="ICD10CM:E24.0", source="MONDO:Redundant", source="Orphanet:99892"} ! Cushing syndrome is_a: EFO:1000973 {source="DOID:3946", source="MESH:D047748"} ! hyperpituitarism property_value: closeMatch http://identifiers.org/meddra/10035109 property_value: exactMatch DOID:3946 property_value: exactMatch http://identifiers.org/mesh/D047748 property_value: exactMatch http://identifiers.org/snomedct/190502001 property_value: exactMatch http://identifiers.org/snomedct/237734007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342442 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E24.0 property_value: exactMatch Orphanet:99892 property_value: excluded_subClassOf MONDO:0018387 {source="Orphanet:99892"} property_value: excluded_subClassOf MONDO:0018400 {source="Orphanet:99892"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001111 name: placental site trophoblastic tumor def: "Placental site trophoblastic tumor is a rare gestational trophoblastic tumor (GTT) which develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage." [Orphanet:99928] subset: ordo_disease {source="Orphanet:99928"} synonym: "placental site gestational trophoblastic tumor" EXACT [NCIT:C3757] synonym: "placental site gestational trophoblastic tumour" EXACT OMO:0003005 [] synonym: "placental site trophoblastic tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "placental site trophoblastic tumor" EXACT [MONDO:0006911] synonym: "placental site trophoblastic tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "placental site trophoblastic tumor (morphologic abnormality)" EXACT [DOID:3596] synonym: "placental site trophoblastic tumour (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "placental-site gestational trophoblastic neoplasm" EXACT [DOID:3596, NCIT:C3757] synonym: "placental-site gestational trophoblastic tumor" EXACT [NCIT:C3757] synonym: "placental-site gestational trophoblastic tumour" EXACT OMO:0003005 [] synonym: "placental-site GTT" EXACT [NCIT:C3757] synonym: "PSST" EXACT ABBREVIATION [Orphanet:99928] xref: DOID:3596 {source="EFO:1001111", source="MONDO:equivalentTo"} xref: EFO:1001111 {source="MONDO:equivalentTo"} xref: ICD10:D39.2 {source="ORDO:99928/ntbt", source="Orphanet:99928"} xref: ICDO:9104/1 {source="NCIT:C3757"} xref: MESH:D018245 {source="DOID:3596", source="EFO:1001111", source="MONDO:equivalentTo", source="ORDO:99928/e", source="Orphanet:99928"} xref: MESH:D018245 {source="Orphanet:99928/e", source="DOID:3596", source="EFO:1001111", source="MONDO:equivalentTo", source="Orphanet:99928"} xref: MONDO:0020552 xref: NCIT:C3757 {source="DOID:3596", source="MONDO:equivalentTo"} xref: ONCOTREE:PSTT {source="MONDO:equivalentTo"} xref: Orphanet:99928 {source="MONDO:equivalentTo"} xref: SCTID:237252008 {source="DOID:3596", source="EFO:1001111", source="MONDO:equivalentTo"} xref: UMLS:C0206666 {source="Orphanet:99928/e", source="DOID:3596", source="MONDO:equivalentTo", source="Orphanet:99928", source="NCIT:C3757"} xref: UMLS:C0206666 {source="DOID:3596", source="MONDO:equivalentTo", source="ORDO:99928/e", source="Orphanet:99928", source="NCIT:C3757"} is_a: EFO:0002893 {source="DOID:3596", source="EFO:1001111", source="MESH:D018245"} ! choriocarcinoma is_a: MONDO:0018944 {source="NCIT:C3757", source="Orphanet:99928"} ! gestational trophoblastic neoplasm property_value: closeMatch http://identifiers.org/snomedct/75320001 property_value: exactMatch DOID:3596 property_value: exactMatch DOID:3596 property_value: exactMatch http://identifiers.org/mesh/D018245 property_value: exactMatch http://identifiers.org/mesh/D018245 property_value: exactMatch http://identifiers.org/snomedct/237252008 property_value: exactMatch http://identifiers.org/snomedct/237252008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206666 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206666 property_value: exactMatch NCIT:C3757 property_value: exactMatch NCIT:C3757 property_value: exactMatch Orphanet:99928 [Term] id: EFO:1001112 name: platelet storage pool deficiency def: "Disorder characterized by a decrease or lack of platelet dense bodies in which the releasable pool of adenine nucleotides and 5HT are normally stored." [] def: "Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation ; easy bruising; recurrent anemia ; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic." [https://rarediseases.info.nih.gov/diseases/5034/platelet-storage-pool-deficiency] subset: gard_rare {source="GARD:0005034"} subset: ordo_disease {source="Orphanet:734"} synonym: "alpha delta granule deficiency" RELATED [Orphanet:734] synonym: "alpha dense granule deficiency" EXACT [Orphanet:734] synonym: "combined alpha-delta platelet storage pool deficiency" EXACT [Orphanet:734] synonym: "dense body defect" EXACT [DOID:2223] synonym: "Dense body defect (disorder)" EXACT [] synonym: "platelet dense granule deficiency" EXACT [DOID:2223] synonym: "Platelet dense granule deficiency (disorder)" EXACT [] synonym: "Platelet storage pool defect" EXACT [] synonym: "platelet storage pool defect" EXACT [DOID:2223] synonym: "Platelet Storage Pool Deficiency" EXACT [] synonym: "platelet storage pool deficiency" EXACT [] {comment="preferred label from MONDO"} synonym: "platelet storage pool diseases" RELATED [GARD:0005034] synonym: "storage pool platelet disease" RELATED [OMIM:185050] xref: DOID:2223 {source="EFO:1001112", source="MONDO:equivalentTo"} xref: MedDRA:10084190 xref: MESH:D010981 {source="EFO:1001112", source="DOID:2223", source="MONDO:equivalentTo"} xref: MeSH:D010981 xref: MONDO:0008495 xref: OMIM:185050 {source="DOID:2223", source="Orphanet:734", source="MONDO:equivalentTo"} xref: Orphanet:734 {source="MONDO:equivalentTo"} xref: SCTID:234474009 {source="DOID:2223", source="MONDO:equivalentTo"} xref: SNOMEDCT:128099001 is_a: MONDO:0018795 {source="Orphanet:734"} ! syndromic constitutional thrombocytopenia relationship: EFO:0000784 CL:0000233 ! has_disease_location platelet property_value: exactMatch DOID:2223 property_value: exactMatch http://identifiers.org/mesh/D010981 property_value: exactMatch http://identifiers.org/snomedct/234474009 property_value: exactMatch https://omim.org/entry/185050 property_value: exactMatch Orphanet:734 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5034/platelet-storage-pool-deficiency xsd:anyURI {source="GARD:0005034"} [Term] id: EFO:1001113 name: pneumatosis cystoides intestinalis def: "A condition characterized by the presence of multiple gas-filled cysts in the intestinal wall, the submucosa and/or subserosa of the INTESTINE. The majority of the cysts are found in the JEJUNUM and the ILEUM." [] def: "The presence of gas within the wall of the large or small intestine." [NCIT:P378] synonym: "Pneumatosis Cystoides Intestinalis" EXACT [] synonym: "pneumatosis cystoides intestinalis" EXACT [] {comment="preferred label from MONDO"} synonym: "Pneumatosis cystoides intestinalis (disorder)" EXACT [] xref: DOID:13249 {source="MONDO:equivalentTo", source="EFO:1001113"} xref: ICD9:569.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10049732 {source="EFO:1001113"} xref: MESH:D011006 {source="DOID:13249", source="MONDO:equivalentTo", source="EFO:1001113"} xref: MeSH:D011006 xref: MONDO:0006912 xref: NCIt:C122580 xref: SCTID:17465007 {source="DOID:13249", source="MONDO:equivalentTo", source="EFO:1001113"} xref: SNOMEDCT:17465007 xref: UMLS:C0032266 {source="DOID:13249", source="MONDO:equivalentTo"} is_a: EFO:0009431 {source="DOID:13249", source="EFO:1001113", source="MESH:D011006"} ! intestinal disease property_value: closeMatch http://identifiers.org/meddra/10049732 property_value: exactMatch DOID:13249 property_value: exactMatch http://identifiers.org/mesh/D011006 property_value: exactMatch http://identifiers.org/snomedct/17465007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032266 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001114 name: pneumococcal meningitis def: "An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with OTITIS MEDIA; MASTOIDITIS; SINUSITIS; RESPIRATORY TRACT INFECTIONS; sickle cell disease (ANEMIA, SICKLE CELL); skull fractures; and other disorders. Clinical manifestations include FEVER; HEADACHE; neck stiffness; and somnolence followed by SEIZURES; focal neurologic deficits (notably DEAFNESS); and COMA. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)" [] def: "An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with otitis media; mastoiditis; sinusitis; respiratory tract infections; sickle cell disease (anemia, sickle cell); skull fractures; and other disorders. Clinical manifestations include fever; headache; neck stiffness; and somnolence followed by seizures; focal neurologic deficits (notably deafness); and coma. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)" [MESH:D008586] subset: ordo_disease {source="Orphanet:55655"} synonym: "Meningitis, Pneumococcal" EXACT [] synonym: "Pneumococcal meningitis" EXACT [] synonym: "pneumococcal meningitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Pneumococcal meningitis (disorder)" EXACT [] synonym: "Streptococcus pneumoniae caused infectious meningitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Streptococcus pneumoniae infectious meningitis" EXACT [] xref: DOID:11575 xref: ICD10:G00.1 xref: ICD10CM:G00.1 {source="Orphanet:55655", source="EFO:1001114", source="MONDO:equivalentTo", source="Orphanet:55655/e"} xref: ICD9:320.1 {source="EFO:1001114", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10027253 {source="Orphanet:55655", source="Orphanet:55655/e"} xref: MedDRA:10035645 {source="EFO:1001114"} xref: MESH:D008586 {source="Orphanet:55655", source="EFO:1001114", source="MONDO:equivalentTo", source="Orphanet:55655/e"} xref: MeSH:D008586 xref: MONDO:0006913 xref: NCIT:C157958 {source="MONDO:equivalentTo"} xref: Orphanet:55655 {source="MONDO:equivalentTo"} xref: SCTID:51169003 {source="EFO:1001114", source="MONDO:equivalentTo"} xref: SNOMEDCT:51169003 xref: UMLS:C0025295 {source="Orphanet:55655", source="MONDO:equivalentTo", source="Orphanet:55655/e"} is_a: EFO:0000772 ! pneumococcal infection is_a: MONDO:0001316 ! streptococcal meningitis property_value: closeMatch http://identifiers.org/meddra/10027253 property_value: closeMatch http://identifiers.org/meddra/10035645 property_value: exactMatch http://identifiers.org/mesh/D008586 property_value: exactMatch http://identifiers.org/snomedct/51169003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025295 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G00.1 property_value: exactMatch NCIT:C157958 property_value: exactMatch Orphanet:55655 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001115 name: POEMS syndrome def: "A multisystemic disorder characterized by a sensorimotor polyneuropathy (POLYNEUROPATHIES), organomegaly, endocrinopathy, monoclonal gammopathy, and pigmentary skin changes. Other clinical features which may be present include EDEMA; CACHEXIA; microangiopathic glomerulopathy; pulmonary hypertension (HYPERTENSION, PULMONARY); cutaneous necrosis; THROMBOCYTOSIS; and POLYCYTHEMIA. This disorder is frequently associated with osteosclerotic myeloma. (From Adams et al., Principles of Neurology, 6th ed, p1335; Rev Med Interne 1997;18(7):553-62)" [] def: "POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels." [Orphanet:2905, PMID:23398538] comment: POEMS syndrome is associated with plasmacytomas and osteosclerotic lesions. The etiologic factors of this constellation of diseases are not well defined, but radiation therapy to localized lesions is often of benefit, and there is a report that autologous hematopoetic cell transplantation benefited a patient with refractory disease. {source="https://www.jacionline.org/article/S0091-6749(02)91343-6/fulltext"} subset: ordo_disease {source="Orphanet:2905"} synonym: "Crow-Fukase syndrome" EXACT [Orphanet:2905] synonym: "osteosclerotic myeloma" EXACT [Orphanet:2905] synonym: "PEP syndrome" EXACT [Orphanet:2905] synonym: "POEMS Syndrome" EXACT [] synonym: "POEMS syndrome" EXACT [NCIT:C80303] synonym: "POEMS syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "POEMS syndrome (disorder)" EXACT [] synonym: "polyneuropathy organomegaly" RELATED [GARD:0007411] synonym: "polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes syndrome" RELATED [GARD:0007411] synonym: "polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome" EXACT [Orphanet:2905] synonym: "Takatsuki syndrome" EXACT [Orphanet:2905] xref: DOID:14039 {source="MONDO:equivalentTo", source="EFO:1001115"} xref: MedDRA:10053869 {source="Orphanet:2905/e", source="EFO:1001115", source="Orphanet:2905"} xref: MESH:D016878 {source="Orphanet:2905/e", source="MONDO:equivalentTo", source="EFO:1001115", source="DOID:14039", source="Orphanet:2905"} xref: MeSH:D016878 xref: MONDO:0017364 xref: NCIT:C80303 {source="MONDO:equivalentTo", source="EFO:1001115", source="MONDO:exact-label-match", source="DOID:14039"} xref: NCIt:C80303 xref: Orphanet:2905 {source="MONDO:equivalentTo"} xref: SCTID:79268002 {source="MONDO:equivalentTo", source="EFO:1001115", source="DOID:14039"} xref: SNOMEDCT:79268002 xref: UMLS:C0085404 {source="NCIT:C80303", source="Orphanet:2905/e", source="MONDO:equivalentTo", source="DOID:14039", source="Orphanet:2905"} is_a: MONDO:0004805 ! leukocyte disorder is_a: MONDO:0016169 {source="Orphanet:2905"} ! chronic acquired demyelinating polyneuropathy is_a: MONDO:0018215 ! paraneoplastic neurologic syndrome relationship: disease_has_feature EFO:0000200 {source="Orphanet:2905"} ! plasma cell neoplasm property_value: closeMatch http://identifiers.org/meddra/10053869 property_value: exactMatch DOID:14039 property_value: exactMatch http://identifiers.org/mesh/D016878 property_value: exactMatch http://identifiers.org/snomedct/79268002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085404 property_value: exactMatch NCIT:C80303 property_value: exactMatch Orphanet:2905 property_value: excluded_subClassOf MONDO:0002459 {source="DOID:14039"} property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001116 name: polyradiculoneuropathy def: "Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (GUILLAIN-BARRE SYNDROME) and POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY DEMYELINATING. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots." [] def: "Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (guillain-barre syndrome) and polyradiculoneuropathy, chronic inflammatory demyelinating. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots." [MESH:D011129] synonym: "Polyradiculoneuropathy" EXACT [] synonym: "polyradiculoneuropathy" EXACT [] {comment="preferred label from MONDO"} synonym: "Polyradiculoneuropathy (disorder)" EXACT [] xref: DOID:4308 {source="MONDO:equivalentTo", source="EFO:1001116"} xref: MESH:D011129 {source="MONDO:equivalentTo", source="EFO:1001116", source="DOID:4308"} xref: MeSH:D011129 xref: MONDO:0006915 xref: SCTID:128078004 {source="MONDO:equivalentTo", source="EFO:1001116", source="DOID:4308"} xref: SNOMEDCT:128078004 xref: UMLS:C0032587 {source="MONDO:equivalentTo", source="DOID:4308"} is_a: EFO:0009562 {source="DOID:4308", source="MESH:D011129", source="Wikipedia:Polyradiculoneuropathy"} ! polyneuropathy is_a: MONDO:0002562 {source="MESH:D011129"} ! demyelinating disease property_value: exactMatch DOID:4308 property_value: exactMatch http://identifiers.org/mesh/D011129 property_value: exactMatch http://identifiers.org/snomedct/128078004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032587 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001117 name: postcholecystectomy syndrome def: "Abdominal symptoms after removal of the GALLBLADDER. The common postoperative symptoms are often the same as those present before the operation, such as COLIC, bloating, NAUSEA, and VOMITING. There is pain on palpation of the right upper quadrant and sometimes JAUNDICE. The term is often used, inaccurately, to describe such postoperative symptoms not due to gallbladder removal." [] def: "Abdominal symptoms after removal of the gallbladder. The common postoperative symptoms are often the same as those present before the operation, such as colic, bloating, nausea, and vomiting. There is pain on palpation of the right upper quadrant and sometimes jaundice. The term is often used, inaccurately, to describe such postoperative symptoms not due to gallbladder removal." [MESH:D017562] synonym: "Postcholecystectomy Syndrome" EXACT [] synonym: "postcholecystectomy syndrome" EXACT [] {comment="preferred label from MONDO"} xref: DOID:9740 {source="MONDO:equivalentTo", source="EFO:1001117"} xref: ICD10:K91.5 xref: ICD10CM:K91.5 {source="MONDO:equivalentTo", source="EFO:1001117", source="DOID:9740"} xref: ICD9:576.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:1001117", source="DOID:9740"} xref: MedDRA:10036330 xref: MESH:D017562 {source="MONDO:equivalentTo", source="EFO:1001117", source="DOID:9740"} xref: MeSH:D017562 xref: MONDO:0006916 xref: SCTID:90782003 {source="MONDO:equivalentTo", source="EFO:1001117", source="DOID:9740"} xref: SNOMEDCT:90782003 xref: UMLS:C0152099 {source="MONDO:equivalentTo", source="DOID:9740"} is_a: EFO:0009534 {source="DOID:9740", source="MESH:D017562"} ! biliary tract disease is_a: EFO:1000018 {source="EFO:1001117"} ! bladder disease property_value: exactMatch DOID:9740 property_value: exactMatch http://identifiers.org/mesh/D017562 property_value: exactMatch http://identifiers.org/snomedct/90782003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152099 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K91.5 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001118 name: posterior cerebral artery infarction def: "NECROSIS induced by ISCHEMIA in the POSTERIOR CEREBRAL ARTERY distribution system which supplies portions of the BRAIN STEM; the THALAMUS; TEMPORAL LOBE, and OCCIPITAL LOBE. Depending on the size and location of infarction, clinical features include OLFACTION DISORDERS and visual problems (AGNOSIA; ALEXIA; HEMIANOPSIA)." [] def: "Necrosis induced by ischemia in the posterior cerebral artery distribution system which supplies portions of the brain stem; the thalamus; temporal lobe, and occipital lobe. Depending on the size and location of infarction, clinical features include olfaction disorders and visual problems (agnosia; alexia; hemianopsia)." [MESH:D020762] synonym: "Infarction, Posterior Cerebral Artery" EXACT [] synonym: "posterior cerebral artery infarction" EXACT [] {comment="preferred label from MONDO"} xref: DOID:3821 {source="MONDO:equivalentTo", source="EFO:1001118"} xref: MedDRA:10081076 xref: MESH:D020762 {source="DOID:3821", source="MONDO:equivalentTo", source="EFO:1001118"} xref: MeSH:D020762 xref: MONDO:0006917 xref: UMLS:C0752132 {source="DOID:3821", source="MONDO:equivalentTo"} is_a: EFO:1000859 {source="DOID:3821", source="MESH:D020762"} ! cerebral arterial disease is_a: MONDO:0002679 {source="DOID:3821", source="MESH:D020762"} ! cerebral infarction property_value: exactMatch DOID:3821 property_value: exactMatch http://identifiers.org/mesh/D020762 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0752132 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001119 name: posterior uveitis def: "Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis." [MESH:D015866] comment: Editor note: choroid=PU. in MESH PUitis is defined to be choroid+retina+VB, and isa panuveitis. TODO check ORDO, GARD subset: gard_rare synonym: "chorioretinal region inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "inflammation of chorioretinal region" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Posterior Uveitis" EXACT [] synonym: "Posterior uveitis" EXACT [] synonym: "posterior uveitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Posterior uveitis (disorder)" EXACT [] synonym: "Posterior uveitis NOS (disorder)" EXACT [] synonym: "Uveitis, Posterior" EXACT [] synonym: "uveitis, posterior" EXACT [DOID:12574] synonym: "Uveitis, posterior NOS" EXACT [] xref: DOID:12574 {source="MONDO:equivalentTo", source="EFO:1001119"} xref: MedDRA:10036370 {source="EFO:1001119"} xref: MESH:D015866 {source="MONDO:equivalentTo", source="DOID:12574", source="EFO:1001119"} xref: MeSH:D015866 xref: MONDO:0006918 xref: NCIT:C35111 {source="MONDO:relatedTo", source="DOID:12574", source="EFO:1001119", source="MONDO:directSiblingOf"} xref: NCIt:C35111 xref: Orphanet:280892 {source="GARD:0004457", source="MONDO:directSiblingOf"} xref: SCTID:43363007 {source="MONDO:equivalentTo", source="DOID:12574", source="EFO:1001119"} xref: SCTID:46627006 {source="DOID:12574", source="MONDO:directSiblingOf"} xref: SNOMEDCT:43363007 xref: UMLS:C0042167 {source="DOID:12574", source="MONDO:directSiblingOf"} is_a: EFO:1001082 ! panuveitis is_a: EFO:1001231 {source="DOID:12574/inferred", source="EFO:1001119/inferred", source="MESH:D015866/inferred", source="NCIT:C35111"} ! uveitis property_value: closeMatch http://identifiers.org/meddra/10036370 property_value: exactMatch DOID:12574 property_value: exactMatch http://identifiers.org/mesh/D015866 property_value: exactMatch http://identifiers.org/snomedct/43363007 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001120 name: potassium deficiency def: "A condition due to decreased dietary intake of potassium, as in starvation or failure to administer in intravenous solutions, or to gastrointestinal loss in diarrhea, chronic laxative abuse, vomiting, gastric suction, or bowel diversion. Severe potassium deficiency may produce muscular weakness and lead to paralysis and respiratory failure. Muscular malfunction may result in hypoventilation, paralytic ileus, hypotension, muscle twitches, tetany, and rhabomyolysis. Nephropathy from potassium deficit impairs the concentrating mechanism, producing POLYURIA and decreased maximal urinary concentrating ability with secondary POLYDIPSIA. (Merck Manual, 16th ed)" [] def: "A condition due to decreased dietary intake of potassium, as in starvation or failure to administer in intravenous solutions, or to gastrointestinal loss in diarrhea, chronic laxative abuse, vomiting, gastric suction, or bowel diversion. Severe potassium deficiency may produce muscular weakness and lead to paralysis and respiratory failure. Muscular malfunction may result in hypoventilation, paralytic ileus, hypotension, muscle twitches, tetany, and rhabomyolysis. Nephropathy from potassium deficit impairs the concentrating mechanism, producing polyuria and decreased maximal urinary concentrating ability with secondary polydipsia. (Merck Manual, 16th ed)" [MESH:D011191] synonym: "K deficiency" EXACT [] synonym: "Potassium Deficiency" EXACT [] synonym: "potassium deficiency" EXACT [] {comment="preferred label from MONDO"} xref: DOID:13582 xref: MedDRA:10036445 {source="EFO:1001120"} xref: MESH:D011191 {source="EFO:1001120", source="MONDO:equivalentTo"} xref: MeSH:D011191 xref: MONDO:0006919 is_a: EFO:1001067 {source="EFO:1001120", source="MESH:D011191"} ! nutritional deficiency disease property_value: closeMatch http://identifiers.org/meddra/10036445 property_value: exactMatch http://identifiers.org/mesh/D011191 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001121 name: prediabetes syndrome def: "A condition in which blood glucose levels are high, but not high enough to be classified as type 2 diabetes." [NCIT:P378] def: "The time period before the development of symptomatic diabetes. For example, certain risk factors can be observed in subjects who subsequently develop INSULIN RESISTANCE as in type 2 diabetes (DIABETES MELLITUS, TYPE 2)." [] synonym: "borderline diabetes" EXACT [NCIT:C122685] synonym: "Prediabetes" EXACT [] synonym: "prediabetes" EXACT [DOID:11716] synonym: "prediabetes syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Prediabetic State" EXACT [] synonym: "prediabetic state" EXACT [DOID:11716] xref: DOID:11716 {source="EFO:1001121", source="MONDO:equivalentTo"} xref: MedDRA:10065542 {source="EFO:1001121"} xref: MESH:D011236 {source="EFO:1001121", source="DOID:11716", source="MONDO:equivalentTo"} xref: MeSH:D011236 xref: MONDO:0006920 xref: NCIT:C122685 {source="EFO:1001121", source="DOID:11716", source="MONDO:equivalentTo"} xref: NCIt:C122685 xref: UMLS:C0362046 {source="DOID:11716", source="MONDO:equivalentTo", source="NCIT:C122685"} is_a: EFO:0000400 ! diabetes mellitus is_a: EFO:0009406 {source="DOID:11716/inferred", source="MESH:D011236/inferred", source="MONDO:Redundant", source="NCIT:C122685"} ! glucose metabolism disease property_value: closeMatch http://identifiers.org/meddra/10065542 property_value: exactMatch DOID:11716 property_value: exactMatch http://identifiers.org/mesh/D011236 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0362046 property_value: exactMatch NCIT:C122685 property_value: excluded_subClassOf MONDO:0005015 {source="DOID:11716", source="EFO:1001121", source="MESH:D011236"} property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5723 xsd:anyURI [Term] id: EFO:1001122 name: primary Actinomycetales infectious disease def: "Infections with bacteria of the order ACTINOMYCETALES." [] def: "Infections with bacteria of the order actinomycetales." [MESH:D000193] synonym: "actinomycetales caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "actinomycetales disease or disorder" EXACT [] synonym: "Actinomycetales infection" EXACT [] synonym: "actinomycetales infection" EXACT [MESH:D000193, NCIT:C84534, UMLS:C0001255] synonym: "Actinomycetales Infections" EXACT [] synonym: "actinomycetales infections" EXACT [MESH:D000193] synonym: "Actinomycetales infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "actinomycete infection" EXACT [MESH:D000193] synonym: "actinomycete infections" EXACT [MESH:D000193] synonym: "actinomycosis" RELATED [] synonym: "actinomycotic infection" EXACT [] synonym: "actinomycotic infectious disease" EXACT [MONDO:0024390] synonym: "infection caused by actinomycetales" RELATED [UMLS:C0001255] synonym: "infection, actinomycetales" EXACT [MESH:D000193] synonym: "infection, actinomycete" EXACT [MESH:D000193] synonym: "infections, actinomycetales" EXACT [MESH:D000193] synonym: "infections, actinomycete" EXACT [MESH:D000193] xref: DOID:2313 xref: ICD9:039.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:039.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10000625 xref: MedDRA:10000626 xref: MESH:D000193 {source="EFO:1001122", source="MONDO:equivalentTo", source="UMLS:C0001255"} xref: MeSH:D000193 xref: MONDO:0006921 xref: NCIT:C84534 {source="MONDO:equivalentTo", source="UMLS:C0001255"} xref: SCTID:11817007 {source="MONDO:equivalentTo"} xref: SCTID:721751007 {source="MONDO:equivalentTo", source="UMLS:C0001255"} xref: UMLS:C0001255 {source="MONDO:equivalentTo"} is_a: MONDO:0021679 {source="MESH:D000193"} ! gram-positive bacterial infections is_a: MONDO:0024389 ! anaerobic bacteria infectious disease property_value: exactMatch http://identifiers.org/mesh/D000193 property_value: exactMatch http://identifiers.org/snomedct/11817007 property_value: exactMatch http://identifiers.org/snomedct/721751007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001255 property_value: exactMatch NCIT:C84534 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001123 name: primary Anaplasmataceae infectious disease def: "Infections with bacteria of the family ANAPLASMATACEAE." [] def: "Infections with bacteria of the family anaplasmataceae." [MESH:D000711] synonym: "Anaplasmataceae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Anaplasmataceae disease or disorder" EXACT [] synonym: "Anaplasmataceae infection" RELATED [MESH:D000711] synonym: "Anaplasmataceae Infections" EXACT [] synonym: "Anaplasmataceae infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Haemobartonelloses" RELATED [MESH:D000711] synonym: "Haemobartonellosis" RELATED [MESH:D000711] synonym: "infection, Anaplasmataceae" RELATED [MESH:D000711] synonym: "infections, Anaplasmataceae" RELATED [MESH:D000711] xref: DOID:4351 xref: MESH:D000711 {source="EFO:1001123", source="MONDO:equivalentTo"} xref: MeSH:D000711 xref: MONDO:0006922 xref: SCTID:422167001 {source="MONDO:equivalentTo"} is_a: EFO:1001162 ! rickettsiosis is_a: MONDO:0021678 {source="MESH:D000711"} ! gram-negative bacterial infections property_value: exactMatch http://identifiers.org/mesh/D000711 property_value: exactMatch http://identifiers.org/snomedct/422167001 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001124 name: primary Bacillaceae infectious disease def: "Infections with bacteria of the family BACILLACEAE." [] def: "Infections with bacteria of the family bacillaceae." [MESH:D016863] synonym: "Bacillaceae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Bacillaceae disease or disorder" EXACT [] synonym: "Bacillaceae infection" RELATED [MESH:D016863] synonym: "Bacillaceae Infections" EXACT [] synonym: "Bacillaceae infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "infection, Bacillaceae" RELATED [MESH:D016863] synonym: "infections, Bacillaceae" RELATED [MESH:D016863] xref: DOID:1938 xref: MESH:D016863 {source="MONDO:equivalentTo", source="EFO:1001124"} xref: MeSH:D016863 xref: MONDO:0006923 xref: UMLS:C0085389 {source="MONDO:equivalentTo"} is_a: MONDO:0021679 {source="MESH:D016863"} ! gram-positive bacterial infections property_value: exactMatch http://identifiers.org/mesh/D016863 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085389 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001125 name: primary Bartonellaceae infectious disease def: "Infections with bacteria of the family BARTONELLACEAE." [] def: "Infections with bacteria of the family bartonellaceae." [MESH:D001476] synonym: "Bartonellaceae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Bartonellaceae disease or disorder" EXACT [] synonym: "Bartonellaceae infection" RELATED [MESH:D001476] synonym: "Bartonellaceae Infections" EXACT [] synonym: "Bartonellaceae infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "infection, Bartonellaceae" RELATED [MESH:D001476] synonym: "infections, Bartonellaceae" RELATED [MESH:D001476] xref: DOID:2809 xref: MESH:D001476 {source="EFO:1001125", source="MONDO:equivalentTo"} xref: MeSH:D001476 xref: MONDO:0006924 xref: UMLS:C0004773 {source="MONDO:equivalentTo"} is_a: MONDO:0021678 {source="MESH:D001476"} ! gram-negative bacterial infections property_value: exactMatch http://identifiers.org/mesh/D001476 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004773 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001126 name: primary Fusobacteriaceae infectious disease def: "Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum FUSOBACTERIA." [] def: "Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum fusobacteria." [MESH:D045825] synonym: "Fusobacteriaceae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Fusobacteriaceae disease or disorder" EXACT [] synonym: "Fusobacteriaceae infection" RELATED [MESH:D045825] synonym: "Fusobacteriaceae Infections" EXACT [] synonym: "Fusobacteriaceae infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "infection, Fusobacteriaceae" RELATED [MESH:D045825] synonym: "infections, Fusobacteriaceae" RELATED [MESH:D045825] xref: DOID:563 xref: MESH:D045825 {source="MONDO:equivalentTo", source="EFO:1001126"} xref: MeSH:D045825 xref: MONDO:0006925 xref: UMLS:C1258222 {source="MONDO:equivalentTo"} is_a: MONDO:0021678 {source="MESH:D045825"} ! gram-negative bacterial infections property_value: exactMatch http://identifiers.org/mesh/D045825 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1258222 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001127 name: primary Haemophilus infectious disease def: "Infections with bacteria of the genus HAEMOPHILUS." [] def: "Infections with bacteria of the genus haemophilus." [MESH:D006192] synonym: "Haemophilus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Haemophilus disease or disorder" EXACT [] synonym: "Haemophilus infection" RELATED [MESH:D006192] synonym: "Haemophilus infection (disorder)" EXACT [] synonym: "Haemophilus Infections" EXACT [] synonym: "Haemophilus infectious disease" EXACT [] synonym: "haemophilus infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Hemophilus Infection" EXACT [] synonym: "Hemophilus infection" RELATED [MESH:D006192] synonym: "Hemophilus infections" RELATED [MESH:D006192] synonym: "infection, Haemophilus" RELATED [MESH:D006192] synonym: "infection, Hemophilus" RELATED [MESH:D006192] synonym: "infections, Haemophilus" RELATED [MESH:D006192] synonym: "infections, Hemophilus" RELATED [MESH:D006192] xref: DOID:10529 xref: MESH:D006192 {source="MONDO:equivalentTo", source="EFO:1001127"} xref: MeSH:D006192 xref: MONDO:0006926 xref: NCIT:C34654 {source="MONDO:equivalentTo"} xref: SCTID:41659003 {source="MONDO:equivalentTo"} is_a: EFO:0000771 {source="EFO:1001127", source="MESH:D006192/inferred", source="MONDO:Redundant", source="NCIT:C34654"} ! bacterial disease property_value: exactMatch http://identifiers.org/mesh/D006192 property_value: exactMatch http://identifiers.org/snomedct/41659003 property_value: exactMatch NCIT:C34654 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001128 name: Rickettsiaceae infectious disease def: "Infections with bacteria of the family Rickettsiaceae." [] def: "Infections with bacteria of the family rickettsiaceae." [MESH:D012288] synonym: "infection, Rickettsiaceae" RELATED [MESH:D012288] synonym: "infections, Rickettsiaceae" RELATED [MESH:D012288] synonym: "primary Rickettsiaceae infectious disease" EXACT [] synonym: "Rickettsiaceae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Rickettsiaceae disease or disorder" EXACT [] synonym: "Rickettsiaceae infection" RELATED [MESH:D012288] synonym: "Rickettsiaceae Infections" EXACT [] synonym: "Rickettsiaceae infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "rickettsialpox" RELATED [MESH:D012288] xref: DOID:11099 xref: MESH:D012288 {source="MONDO:equivalentTo", source="EFO:1001128"} xref: MeSH:D012288 xref: MONDO:0006927 is_a: EFO:1001162 ! rickettsiosis is_a: MONDO:0021678 {source="MESH:D012288"} ! gram-negative bacterial infections property_value: exactMatch http://identifiers.org/mesh/D012288 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001129 name: proliferative vitreoretinopathy def: "Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes." [] synonym: "Retinitis proliferans" EXACT [] synonym: "Vitreoretinopathy, Proliferative" EXACT [] xref: DOID:9719 xref: MedDRA:10057896 xref: MeSH:D018630 xref: SNOMEDCT:232016005 is_a: Orphanet:98668 ! Vitreoretinopathy property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001130 name: Proteus infectious disease def: "Infections with bacteria of the genus PROTEUS." [] def: "Infections with bacteria of the genus proteus." [MESH:D011512] synonym: "infection, Proteus" RELATED [MESH:D011512] synonym: "infections, Proteus" RELATED [MESH:D011512] synonym: "Proteus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Proteus disease or disorder" EXACT [] synonym: "Proteus infectious disease" EXACT [] synonym: "Proteus infection" EXACT [] synonym: "Proteus infection" RELATED [MESH:D011512] synonym: "Proteus infection (disorder)" EXACT [] synonym: "Proteus infection NOS (disorder)" EXACT [] synonym: "Proteus Infections" EXACT [] synonym: "Proteus infectious disease" EXACT [] {comment="preferred label from MONDO"} xref: DOID:3881 xref: MESH:D011512 {source="EFO:1001130", source="MONDO:equivalentTo"} xref: MeSH:D011512 xref: MONDO:0006929 xref: SCTID:186437007 {source="MONDO:equivalentTo"} xref: UMLS:C0033700 {source="MONDO:equivalentTo"} is_a: EFO:0000771 {source="EFO:1001130", source="MESH:D011512/inferred", source="MONDO:Redundant"} ! bacterial disease property_value: exactMatch http://identifiers.org/mesh/D011512 property_value: exactMatch http://identifiers.org/snomedct/186437007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033700 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001131 name: pseudobulbar palsy def: "A condition affecting cranial nerves IX-XII resulting from upper motor neuron damage arising from a variety of causes." [NCIT:C129934] def: "A syndrome characterized by DYSARTHRIA, dysphagia, dysphonia, impairment of voluntary movements of tongue and facial muscles, and emotional lability. This condition is caused by diseases that affect the motor fibers that travel from the cerebral cortex to the lower BRAIN STEM (i.e., corticobulbar tracts); including MULTIPLE SCLEROSIS; MOTOR NEURON DISEASE; and CEREBROVASCULAR DISORDERS. (From Adams et al., Principles of Neurology, 6th ed, p489)" [] synonym: "Pseudobulbar Palsy" EXACT [] synonym: "Pseudobulbar palsy" EXACT [] synonym: "pseudobulbar palsy" EXACT [] {comment="preferred label from MONDO"} synonym: "pseudobulbar palsy" EXACT [DOID:12680, ICD9CM:335.23] synonym: "Pseudobulbar palsy (disorder)" EXACT [] synonym: "pseudobulbar paralysis" EXACT [DOID:12680] xref: DOID:12680 {source="EFO:1001131", source="MONDO:equivalentTo"} xref: ICD9:335.23 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12680"} xref: MedDRA:10037114 {source="EFO:1001131"} xref: MESH:D020828 {source="EFO:1001131", source="MONDO:equivalentTo", source="DOID:12680"} xref: MeSH:D020828 xref: MONDO:0006930 xref: NCIT:C129934 {source="MONDO:equivalentTo"} xref: SCTID:7379000 {source="EFO:1001131", source="MONDO:equivalentTo", source="DOID:12680"} xref: SNOMEDCT:7379000 xref: UMLS:C0033790 {source="MONDO:equivalentTo", source="DOID:12680", source="NCIT:C129934"} is_a: EFO:0005774 ! brain disease is_a: MONDO:0003569 {source="NCIT:C129934"} ! cranial nerve neuropathy property_value: closeMatch http://identifiers.org/meddra/10037114 property_value: exactMatch DOID:12680 property_value: exactMatch http://identifiers.org/mesh/D020828 property_value: exactMatch http://identifiers.org/snomedct/7379000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033790 property_value: exactMatch NCIT:C129934 property_value: excluded_subClassOf MONDO:0020128 {source="DOID:12680"} property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001132 name: pseudotumor cerebri def: "A condition marked by raised intracranial pressure and characterized clinically by HEADACHES; NAUSEA; PAPILLEDEMA, peripheral constriction of the visual fields, transient visual obscurations, and pulsatile TINNITUS. OBESITY is frequently associated with this condition, which primarily affects women between 20 and 44 years of age. Chronic PAPILLEDEMA may lead to optic nerve injury (see OPTIC NERVE DISEASES) and visual loss (see BLINDNESS)." [] def: "Idiopathic intracranial hypertension is a neurological disorder characterized by isolated increased intracranial pressure manifesting with recurrent and persistent headaches, nausea, vomiting, progressive and transient obstruction of the visual field, papilledema. Visual loss can be irreversible." [Orphanet:238624] subset: gard_rare {source="GARD:0004561"} subset: ordo_disease {source="Orphanet:238624"} synonym: "benign intracran. hypt." EXACT [DOID:11459] synonym: "benign intracranial hypertension" EXACT [DOID:11459, ICD9CM:348.2, Orphanet:238624] synonym: "benign intracranial hypertension (disorder)" EXACT [] synonym: "idiopathic intracranial hypertension" EXACT [DOID:11459] synonym: "IIH" EXACT ABBREVIATION [Orphanet:238624] synonym: "intracranial hypertension, idiopathic" RELATED [OMIM:243200] synonym: "Pseudotumor Cerebri" EXACT [] synonym: "Pseudotumor cerebri" EXACT [] synonym: "pseudotumor cerebri" EXACT [] {comment="preferred label from MONDO"} synonym: "pseudotumor cerebri" EXACT [DOID:11459, OMIM:243200, Orphanet:238624] xref: DOID:11459 {source="EFO:1001132", source="MONDO:equivalentTo"} xref: ICD9:348.2 {source="DOID:11459", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10037149 {source="EFO:1001132"} xref: MESH:D011559 {source="DOID:11459", source="EFO:1001132", source="MONDO:equivalentTo"} xref: MeSH:D011559 xref: MONDO:0009468 xref: NCIT:C85035 {source="DOID:11459", source="EFO:1001132", source="MONDO:equivalentTo"} xref: NCIt:C85035 xref: OMIM:243200 {source="DOID:11459", source="Orphanet:238624", source="MONDO:equivalentTo", source="Orphanet:238624/e"} xref: Orphanet:238624 {source="MONDO:equivalentTo", source="OMIM:243200"} xref: SCTID:68267002 {source="DOID:11459", source="MONDO:equivalentTo"} xref: UMLS:C0033845 {source="DOID:11459", source="Orphanet:238624", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:243200", source="NCIT:C85035"} is_a: EFO:0003763 {source="DOID:11459"} ! cerebrovascular disorder is_a: EFO:1000992 {source="DOID:11459", source="EFO:1001132", source="MESH:D011559"} ! intracranial hypertension property_value: closeMatch http://identifiers.org/meddra/10037149 property_value: exactMatch DOID:11459 property_value: exactMatch http://identifiers.org/mesh/D011559 property_value: exactMatch http://identifiers.org/snomedct/68267002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033845 property_value: exactMatch https://omim.org/entry/243200 property_value: exactMatch NCIT:C85035 property_value: exactMatch Orphanet:238624 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4561/pseudotumor-cerebri xsd:anyURI {source="GARD:0004561"} [Term] id: EFO:1001133 name: pulmonary coin lesion def: "A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the chest wall, or the pleura." [MESH:D003074] synonym: "coin lesion lung" EXACT [DOID:5364] synonym: "coin lesion lung" EXACT [DOID:5364, MTHICD9_2006:793.1] synonym: "coin lesion of lung" EXACT [DOID:5364] synonym: "coin lesion of lung (context-dependent category)" EXACT [DOID:5364] synonym: "coin lesion of lung (finding)" EXACT [DOID:5364] synonym: "pulmonary coin lesion" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "pulmonary coin lesion" EXACT [] {comment="preferred label from MONDO"} xref: DOID:5364 {source="EFO:1001133", source="MONDO:equivalentTo"} xref: EFO:1001133 {source="MONDO:equivalentTo"} xref: ICD10:R91.1 {source="DOID:5364"} xref: MESH:D003074 {source="EFO:1001133", source="MONDO:equivalentTo", source="DOID:5364"} xref: MONDO:0006931 xref: UMLS:C0009250 {source="MONDO:equivalentTo", source="DOID:5364"} is_a: EFO:0003818 {source="DOID:5364/inferred", source="MESH:D003074"} ! lung disease property_value: closeMatch http://identifiers.org/snomedct/158600006 property_value: closeMatch http://identifiers.org/snomedct/207405001 property_value: closeMatch http://identifiers.org/snomedct/308689002 property_value: closeMatch http://identifiers.org/snomedct/39347009 property_value: exactMatch DOID:5364 property_value: exactMatch DOID:5364 property_value: exactMatch http://identifiers.org/mesh/D003074 property_value: exactMatch http://identifiers.org/mesh/D003074 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009250 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009250 property_value: excluded_subClassOf MONDO:0002732 {source="DOID:5364"} [Term] id: EFO:1001134 name: pulmonary edema def: "Accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure. It is caused by direct injury to the lung parenchyma or congestive heart failure. The symptoms may appear suddenly or gradually. Suddenly appearing symptoms include difficulty breathing, feeling of suffocation, and coughing associated with frothy sputum. Gradually appearing symptoms include difficulty breathing while lying in bed, shortness of breath during activity, and weight gain (in patients with congestive heart failure)." [NCIT:P378] def: "Excessive accumulation of extravascular fluid in the lung, an indication of a serious underlying disease or disorder. Pulmonary edema prevents efficient PULMONARY GAS EXCHANGE in the PULMONARY ALVEOLI, and can be life-threatening." [] synonym: "edema, pulmonary" EXACT [NCIT:C26868] synonym: "Pulmonary Edema" EXACT [] synonym: "pulmonary edema" EXACT [] {comment="preferred label from MONDO"} synonym: "pulmonary oedema" EXACT [] xref: DOID:11396 {source="EFO:1001134", source="MONDO:equivalentTo"} xref: ICD10CM:J81 {source="MONDO:equivalentTo", source="DOID:11396"} xref: MedDRA:10037375 {source="EFO:1001134"} xref: MESH:D011654 {source="EFO:1001134", source="MONDO:equivalentTo", source="DOID:11396"} xref: MeSH:D011654 xref: MONDO:0006932 xref: NCIT:C26868 {source="EFO:1001134", source="MONDO:equivalentTo", source="DOID:11396"} xref: NCIt:C26868 xref: SCTID:19242006 {source="EFO:1001134", source="MONDO:equivalentTo", source="DOID:11396"} xref: SNOMEDCT:19242006 xref: UMLS:C0034063 {source="MONDO:equivalentTo", source="DOID:11396", source="NCIT:C26868"} is_a: MONDO:0001208 {source="DOID:11396", source="NCIT:C26868"} ! acute respiratory failure property_value: closeMatch http://identifiers.org/meddra/10037375 property_value: exactMatch DOID:11396 property_value: exactMatch http://identifiers.org/mesh/D011654 property_value: exactMatch http://identifiers.org/snomedct/19242006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034063 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/J81 property_value: exactMatch NCIT:C26868 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001135 name: pulmonary plasma cell granuloma def: "A tumor-like inflammatory lesion of the lung that is composed of PLASMA CELLS and fibrous tissue. It is also known as an inflammatory pseudotumor, often with calcification and measuring between 2 and 5 cm in diameter." [] def: "A tumor-like inflammatory lesion of the lung that is composed of plasma cells and fibrous tissue. It is also known as an inflammatory pseudotumor, often with calcification and measuring between 2 and 5 cm in diameter." [MESH:D016726] synonym: "granuloma, plasma cell, pulmonary" EXACT [DOID:3677] synonym: "lymphocytic pseudotumor of lung" EXACT [DOID:3677] synonym: "Lymphocytic pseudotumor of lung (disorder)" EXACT [] synonym: "Plasma Cell Granuloma, Pulmonary" EXACT [] synonym: "pulmonary plasma cell granuloma" EXACT [] {comment="preferred label from MONDO"} synonym: "Sclerosing hemangiocytoma of lung" EXACT [] synonym: "sclerosing hemangiocytoma of lung" EXACT [DOID:3677] xref: DOID:3677 {source="MONDO:equivalentTo", source="EFO:1001135"} xref: ICD9:518.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D016726 {source="MONDO:equivalentTo", source="DOID:3677", source="EFO:1001135"} xref: MeSH:D016726 xref: MONDO:0006933 xref: SCTID:1648002 {source="MONDO:equivalentTo", source="DOID:3677"} xref: SNOMEDCT:707373004 xref: UMLS:C0085269 {source="MONDO:equivalentTo", source="DOID:3677"} is_a: EFO:0003818 {source="DOID:3677", source="EFO:1001135", source="MESH:D016726"} ! lung disease property_value: exactMatch DOID:3677 property_value: exactMatch http://identifiers.org/mesh/D016726 property_value: exactMatch http://identifiers.org/snomedct/1648002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085269 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001136 name: obsolete_pulmonary sclerosing hemangioma property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.98" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication\nUse http://www.ebi.ac.uk/efo/EFO_1000337\nLabel : Lung sclerosing hemangioma" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_1000337 [Term] id: EFO:1001137 name: pulmonary subvalvular stenosis def: "Narrowing below the PULMONARY VALVE or well below it in the infundibuluar chamber where the pulmonary artery originates, usually caused by a defective VENTRICULAR SEPTUM or presence of fibrous tissues. It is characterized by restricted blood outflow from the RIGHT VENTRICLE into the PULMONARY ARTERY, exertional fatigue, DYSPNEA, and chest discomfort." [] def: "The obstruction of the right ventricular outflow tract that originates within the body of the right ventricle, that exists at the time of birth; it often occurs in association with other intracardiac anomalies." [NCIT:P378] synonym: "Congenital Infundibular Stenosis" EXACT [] synonym: "congenital infundibular stenosis" EXACT [DOID:8861, NCIT:C34961] synonym: "infundibular pulmonic stenosis" EXACT [DOID:8861] synonym: "Infundibular pulmonic stenosis (disorder)" EXACT [] synonym: "Infundibular pulmonic stenosis, congenital" EXACT [] synonym: "infundibular pulmonic stenosis, congenital" EXACT [DOID:8861, ICD9CM:746.83] synonym: "pulmonary infundibular stenosis" EXACT [DOID:8861] synonym: "pulmonary infundibular stenosis (disorder)" EXACT [] synonym: "Pulmonary Subvalvular Stenosis" EXACT [] synonym: "pulmonary subvalvular stenosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Subvalvular pulmonic stenosis" EXACT [] synonym: "subvalvular pulmonic stenosis" EXACT [DOID:8861] xref: DOID:8861 {source="MONDO:equivalentTo", source="EFO:1001137"} xref: ICD9:746.83 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8861"} xref: MESH:D011662 {source="MONDO:equivalentTo", source="EFO:1001137", source="DOID:8861"} xref: MeSH:D011662 xref: MONDO:0006935 xref: NCIT:C34961 {source="MONDO:equivalentTo", source="DOID:8861"} xref: SCTID:204370002 {source="MONDO:equivalentTo", source="DOID:8861"} is_a: EFO:1001138 {source="DOID:8861", source="MESH:D011662"} ! pulmonary valve stenosis property_value: exactMatch DOID:8861 property_value: exactMatch http://identifiers.org/mesh/D011662 property_value: exactMatch http://identifiers.org/snomedct/204370002 property_value: exactMatch NCIT:C34961 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001138 name: pulmonary valve stenosis def: "The pathologic narrowing of the orifice of the PULMONARY VALVE. This lesion restricts blood outflow from the RIGHT VENTRICLE to the PULMONARY ARTERY. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete." [] def: "The pathologic narrowing of the orifice of the pulmonary valve. This lesion restricts blood outflow from the right ventricle to the pulmonary artery. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete." [MESH:D011666] synonym: "Pulmonary Valve Stenosis" EXACT [] synonym: "pulmonary valve stenosis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:6420 {source="MONDO:equivalentTo", source="EFO:1001138"} xref: MedDRA:10037450 {source="EFO:1001138"} xref: MESH:D011666 {source="MONDO:equivalentTo", source="EFO:1001138", source="DOID:6420"} xref: MeSH:D011666 xref: MONDO:0006936 is_a: EFO:0009564 {source="DOID:6420"} ! pulmonary valve disease property_value: closeMatch http://identifiers.org/meddra/10037450 property_value: exactMatch DOID:6420 property_value: exactMatch http://identifiers.org/mesh/D011666 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001139 name: pulpitis def: "Inflammation of the DENTAL PULP, usually due to bacterial infection in dental caries, tooth fracture, or other conditions causing exposure of the pulp to bacterial invasion. Chemical irritants, thermal factors, hyperemic changes, and other factors may also cause pulpitis." [] def: "Inflammation of the dental pulp." [NCIT:P378] synonym: "dental pulp inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "inflammation of dental pulp" EXACT [] synonym: "Pulpitis" EXACT [] synonym: "pulpitis" EXACT [] {comment="preferred label from MONDO"} synonym: "pulpitis (disorder)" EXACT [] synonym: "pulpitis NOS (disorder)" EXACT [] xref: DOID:11121 {source="MONDO:equivalentTo", source="EFO:1001139"} xref: ICD10:K04.0 xref: ICD10CM:K04.0 {source="MONDO:equivalentTo", source="DOID:11121", source="EFO:1001139"} xref: ICD9:522.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11121", source="EFO:1001139"} xref: MedDRA:10037463 {source="EFO:1001139"} xref: MESH:D011671 {source="MONDO:equivalentTo", source="DOID:11121", source="EFO:1001139"} xref: MeSH:D011671 xref: MONDO:0006937 xref: NCIt:C52595 xref: SCTID:32620007 {source="MONDO:equivalentTo", source="DOID:11121", source="EFO:1001139"} xref: SNOMEDCT:32620007 xref: UMLS:C0034103 {source="MONDO:equivalentTo", source="DOID:11121"} is_a: EFO:0000771 {source="EFO:1001139"} ! bacterial disease is_a: EFO:0009540 {source="DOID:11121", source="MESH:D011671", source="MONDO:Redundant"} ! dental pulp disease is_a: EFO:0009903 ! inflammatory disease property_value: closeMatch http://identifiers.org/meddra/10037463 property_value: exactMatch DOID:11121 property_value: exactMatch http://identifiers.org/mesh/D011671 property_value: exactMatch http://identifiers.org/snomedct/32620007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034103 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K04.0 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001140 name: pyelitis def: "Inflammation of the KIDNEY PELVIS and KIDNEY CALICES where urine is collected before discharge, but does not involve the renal parenchyma (the NEPHRONS) where urine is processed." [] def: "Inflammation of the renal pelvis." [NCIT:P378] synonym: "inflammation of renal pelvis" EXACT [] synonym: "Pyelitis" EXACT [] synonym: "pyelitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Pyelitis (disorder)" EXACT [] synonym: "Pyelitis NOS" EXACT [] synonym: "Pyelitis unspecified (disorder)" EXACT [] synonym: "renal pelvis inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:2744 {source="EFO:1001140", source="MONDO:equivalentTo"} xref: MedDRA:10037584 {source="EFO:1001140"} xref: MedDRA:10037586 xref: MESH:D011702 {source="EFO:1001140", source="MONDO:equivalentTo", source="DOID:2744"} xref: MeSH:D011702 xref: MONDO:0006938 xref: NCIT:C34964 {source="EFO:1001140", source="MONDO:equivalentTo", source="DOID:2744"} xref: NCIt:C34964 xref: SCTID:27174002 {source="EFO:1001140", source="MONDO:equivalentTo", source="DOID:2744"} xref: SNOMEDCT:27174002 xref: UMLS:C0034183 {source="MONDO:equivalentTo", source="DOID:2744", source="NCIT:C34964"} is_a: EFO:1002050 ! nephritis relationship: RO:0000056 GO:0006954 ! participates_in inflammatory response property_value: closeMatch http://identifiers.org/meddra/10037584 property_value: exactMatch DOID:2744 property_value: exactMatch http://identifiers.org/mesh/D011702 property_value: exactMatch http://identifiers.org/snomedct/27174002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034183 property_value: exactMatch NCIT:C34964 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001141 name: pyelonephritis def: "An inflammatory process affecting the kidney. The cause is most often bacterial, but may also be fungal in nature. Signs and symptoms may include fever, chills, flank pain, painful and frequent urination, cloudy or bloody urine, and confusion." [NCIT:C34965] def: "Inflammation of the KIDNEY involving the renal parenchyma (the NEPHRONS); KIDNEY PELVIS; and KIDNEY CALICES. It is characterized by ABDOMINAL PAIN; FEVER; NAUSEA; VOMITING; and occasionally DIARRHEA." [] synonym: "kidney infection" EXACT [NCIT:C34965] synonym: "Pyelonephritis" EXACT [] synonym: "pyelonephritis" EXACT [] {comment="preferred label from MONDO"} synonym: "pyometrium" RELATED [MONDO:cjm] xref: DOID:11400 {source="EFO:1001141", source="MONDO:equivalentTo"} xref: ICD9:590.80 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11400"} xref: MedDRA:10037596 {source="EFO:1001141"} xref: MedDRA:10037606 xref: MESH:D011704 {source="EFO:1001141", source="MONDO:equivalentTo", source="DOID:11400"} xref: MeSH:D011704 xref: MONDO:0006939 xref: NCIT:C34965 {source="EFO:1001141", source="MONDO:equivalentTo", source="DOID:11400"} xref: NCIt:C34965 xref: SCTID:45816000 {source="EFO:1001141", source="MONDO:equivalentTo", source="DOID:11400"} xref: SNOMEDCT:45816000 xref: UMLS:C0034186 {source="MONDO:equivalentTo", source="NCIT:C34965", source="DOID:11400"} is_a: EFO:0009572 {source="MONDO:cjm"} ! uterine inflammatory disease is_a: EFO:1001140 {source="DOID:11400", source="MESH:D011704"} ! pyelitis is_a: MONDO:0005247 {source="NCIT:C34965"} ! bacterial urinary tract infection property_value: closeMatch http://identifiers.org/meddra/10037596 property_value: exactMatch DOID:11400 property_value: exactMatch http://identifiers.org/mesh/D011704 property_value: exactMatch http://identifiers.org/snomedct/45816000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034186 property_value: exactMatch NCIT:C34965 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001142 name: pyruvate carboxylase deficiency disease def: "An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9)" [] def: "Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients." [Orphanet:3008] subset: ordo_disease {source="Orphanet:3008"} synonym: "ataxia with lactic acidosis 2" RELATED [OMIM:266150] synonym: "ataxia with lactic acidosis type 2" EXACT [Orphanet:3008] synonym: "ataxia with lactic acidosis type II" EXACT [Orphanet:3008] synonym: "deficiency of pyruvic carboxylase" EXACT [DOID:3651] synonym: "Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency" EXACT [Orphanet:3008] synonym: "Leigh syndrome due to PC deficiency" EXACT [Orphanet:3008] synonym: "Leigh syndrome due to pyruvate carboxylase deficiency" EXACT [OMIM:266150, Orphanet:3008] synonym: "Pc deficiency" RELATED [OMIM:266150] synonym: "pyruvate carboxylase deficiency" RELATED [OMIM:266150] synonym: "Pyruvate Carboxylase Deficiency Disease" EXACT [] synonym: "pyruvate carboxylase deficiency disease" EXACT [] {comment="preferred label from MONDO"} xref: DOID:3651 {source="EFO:1001142", source="MONDO:equivalentTo"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D015324 {source="DOID:3651", source="EFO:1001142", source="MONDO:equivalentTo", source="Orphanet:3008", source="Orphanet:3008/e"} xref: MeSH:D015324 xref: MONDO:0009949 xref: NCIT:C85040 {source="DOID:3651", source="EFO:1001142", source="MONDO:equivalentTo"} xref: NCIt:C85040 xref: OMIM:266150 {source="DOID:3651", source="MONDO:equivalentTo", source="Orphanet:3008", source="Orphanet:3008/e"} xref: Orphanet:3008 {source="OMIM:266150", source="MONDO:equivalentTo"} xref: SCTID:87694001 {source="DOID:3651", source="MONDO:equivalentTo"} xref: UMLS:C0034341 {source="OMIM:266150", source="DOID:3651", source="NCIT:C85040", source="MONDO:equivalentTo", source="Orphanet:3008", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3008/e"} xref: UMLS:C2931141 {source="OMIM:266150", source="MONDO:equivalentTo", source="Orphanet:3008"} xref: UMLS:CN203409 {source="MONDO:equivalentTo"} is_a: MONDO:0019225 {source="Orphanet:3008", source="PMID:33340416"} ! disorder of gluconeogenesis is_a: Orphanet:79161 ! Disorder of carbohydrate metabolism property_value: exactMatch DOID:3651 property_value: exactMatch http://identifiers.org/mesh/D015324 property_value: exactMatch http://identifiers.org/snomedct/87694001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034341 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931141 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203409 property_value: exactMatch https://omim.org/entry/266150 property_value: exactMatch NCIT:C85040 property_value: exactMatch Orphanet:3008 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: EFO:1001143 name: radial nerve lesion def: "A peripheral nerve lesion that involves the radial nerve." [MONDO:patterns/location] def: "Disease involving the RADIAL NERVE. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the AXILLA and radial groove of the HUMERUS." [] synonym: "Lesion of radial nerve" EXACT [] synonym: "lesion of radial nerve" EXACT [DOID:12170, ICD9CM:354.3] synonym: "Lesion of radial nerve, NOS" EXACT [] synonym: "peripheral nerve lesion of radial nerve" EXACT [MONDO:design_pattern] synonym: "radial nerve lesion" EXACT [] {comment="preferred label from MONDO"} synonym: "Radial nerve lesion NOS (disorder)" EXACT [] synonym: "radial nerve lesions" EXACT [DOID:12170] synonym: "Radial nerve lesions (disorder)" EXACT [] synonym: "radial nerve peripheral nerve lesion" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "Radial Neuropathy" EXACT [] xref: DOID:12170 {source="EFO:1001143", source="MONDO:equivalentTo"} xref: ICD10:G56.3 xref: ICD9:354.3 {source="DOID:12170", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10061477 {source="EFO:1001143"} xref: MeSH:D020425 xref: MONDO:0006940 xref: SCTID:193137006 {source="EFO:1001143", source="DOID:12170", source="MONDO:equivalentTo"} xref: SNOMEDCT:193137006 xref: UMLS:C0154744 {source="DOID:12170", source="MONDO:equivalentTo"} is_a: EFO:1000843 ! brachial plexus neuritis is_a: MONDO:0001459 {source="DOID:12170", source="MONDO:Redundant"} ! radial neuropathy is_a: MONDO:0003607 {source="DOID:12170"} ! neuritis of upper limb is_a: MONDO:0024334 ! peripheral nerve lesion property_value: closeMatch http://identifiers.org/meddra/10061477 property_value: exactMatch DOID:12170 property_value: exactMatch http://identifiers.org/snomedct/193137006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154744 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001144 name: rat-bite fever def: "A syndrome characterized by recurring fever, rash, and arthralgias occurring days to weeks after a rat bite. The causative agents are either Streptobacillus moniliformis or Spirillum minus." [] def: "An infectious disease that is caused transmitted by the bite of a rat. Two species of bacteria can cause the infection: Streptobacillus moniliformis and Spirillum minus." [NCIT:C34971] subset: gard_rare {source="GARD:0009557"} subset: ordo_disease {source="Orphanet:31205"} synonym: "rat bite fever" RELATED [GARD:0009557] synonym: "Rat bite fever (disorder)" EXACT [] synonym: "Rat-Bite Fever" EXACT [] synonym: "Rat-bite fever" EXACT [] synonym: "rat-bite fever" EXACT [] {comment="preferred label from MONDO"} synonym: "Rat-bite fever NOS (disorder)" EXACT [] synonym: "Rat-bite fever, unspecified (disorder)" EXACT [] synonym: "spirillosis" EXACT [NCIT:C34971] synonym: "Streptobacillosis" EXACT [NCIT:C34971] synonym: "Unspecified rat-bite fever" EXACT [] xref: DOID:12097 xref: ICD9:026.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10037904 {source="Orphanet:31205", source="Orphanet:31205/e"} xref: MESH:D011906 {source="Orphanet:31205", source="EFO:1001144", source="MONDO:equivalentTo", source="Orphanet:31205/e"} xref: MeSH:D011906 xref: MONDO:0006941 xref: NCIT:C34971 {source="MONDO:equivalentTo"} xref: Orphanet:31205 {source="MONDO:equivalentTo"} xref: SCTID:1685005 {source="EFO:1001144", source="MONDO:equivalentTo"} xref: SNOMEDCT:1685005 xref: UMLS:C0034686 {source="Orphanet:31205", source="MONDO:equivalentTo", source="NCIT:C34971", source="Orphanet:31205/e"} is_a: EFO:0000771 {source="EFO:1001144", source="MESH:D011906/inferred", source="MONDO:Redundant", source="NCIT:C34971/inferred", source="Orphanet:31205"} ! bacterial disease is_a: MONDO:0100120 ! vector-borne disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare property_value: closeMatch http://identifiers.org/meddra/10037904 property_value: exactMatch http://identifiers.org/mesh/D011906 property_value: exactMatch http://identifiers.org/snomedct/1685005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034686 property_value: exactMatch NCIT:C34971 property_value: exactMatch Orphanet:31205 property_value: IAO:0000117 "Dani Welter" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9557/rat-bite-fever xsd:anyURI {source="GARD:0009557"} [Term] id: EFO:1001145 name: Raynaud disease def: "An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease." [NCIT:P378] def: "An idiopathic vascular disorder characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or CYANOSIS in response to cold exposure or stress." [] synonym: "cold fingers, hereditary" RELATED [OMIM:179600] synonym: "Raynaud Disease" EXACT [] synonym: "Raynaud disease" EXACT [OMIM:179600] synonym: "Raynaud disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Raynaud syndrome" EXACT [NCIT:C116359] synonym: "Raynaud's disease" EXACT [DOID:10300, MTH:639, NCIT:C34972] synonym: "Raynaud's disease (disorder)" EXACT [] synonym: "Raynaud's syndrome" EXACT [DOID:10300, ICD9CM:443.0] synonym: "Raynaud's syndrome (disorder)" EXACT [] synonym: "Raynaud's syndrome (disorder) [Ambiguous]" EXACT [] synonym: "Raynaud's syndrome (disorder) [ambiguous]" EXACT [DOID:10300] synonym: "Raynaud's syndrome NOS (disorder)" EXACT [] synonym: "secondary Raynaud disease" EXACT [NCIT:C116359] synonym: "secondary Raynaud phenomenon" EXACT [NCIT:C116359] synonym: "secondary Raynaud's disease" EXACT [NCIT:C116359] synonym: "secondary Raynaud's phenomenon" EXACT [NCIT:C116359] xref: DOID:10300 {source="EFO:1001145", source="MONDO:equivalentTo"} xref: ICD10CM:I73.0 {source="MONDO:equivalentTo", source="DOID:10300"} xref: ICD9:443.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D011928 {source="EFO:1001145", source="MONDO:equivalentTo", source="DOID:10300"} xref: MeSH:D011928 xref: MONDO:0008364 xref: NCIT:C116359 {source="MONDO:equivalentTo"} xref: NCIt:C50724 xref: OMIM:179600 {source="MONDO:equivalentTo", source="DOID:10300"} xref: SCTID:195295006 {source="EFO:1001145", source="MONDO:equivalentTo", source="DOID:10300"} xref: SNOMEDCT:195295006 xref: UMLS:C0034734 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C116359", source="OMIM:179600", source="DOID:10300"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: EFO:0003875 {source="DOID:10300", source="EFO:1001145", source="MESH:D011928", source="NCIT:C116359/inferred"} ! peripheral vascular disease property_value: exactMatch DOID:10300 property_value: exactMatch http://identifiers.org/mesh/D011928 property_value: exactMatch http://identifiers.org/snomedct/195295006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034734 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/I73.0 property_value: exactMatch https://omim.org/entry/179600 property_value: exactMatch NCIT:C116359 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001146 name: reflex epilepsy def: "A subtype of epilepsy characterized by seizures that are consistently provoked by a certain specific stimulus. Auditory, visual, and somatosensory stimuli as well as the acts of writing, reading, eating, and decision making are examples of events or activities that may induce seizure activity in affected individuals. (From Neurol Clin 1994 Feb;12(1):57-8)" [] def: "Reflex epilepsy refers to epilepsies where recurrent seizures are provoked by a clearly defined extrinsic (most commonly) or intrinsic triggering stimuli such as flashing lights (photosensitive epilepsy), startling noises (startle epilepsy), urinating (micturition induced seizures), exposure to hot-water (hot water epilepsy), eating, reading, and thinking, while being associated with an enduring abnormal predisposition to have such seizures (thereby meeting the conceptual definition of epilepsy)." [Orphanet:310] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:310"} synonym: "Epilepsy, Reflex" EXACT [] synonym: "epilepsy, sensory-induced" EXACT [DOID:2548] synonym: "reflex epilepsy" EXACT [] {comment="preferred label from MONDO"} xref: DOID:2548 {source="MONDO:equivalentTo", source="EFO:1001146"} xref: ICD9:345.10 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D020195 {source="Orphanet:310/e", source="MONDO:equivalentTo", source="EFO:1001146", source="DOID:2548", source="Orphanet:310"} xref: MeSH:D020195 xref: MONDO:0017768 xref: NCIT:C85041 {source="MONDO:equivalentTo", source="EFO:1001146", source="DOID:2548"} xref: NCIt:C85041 xref: Orphanet:310 {source="MONDO:equivalentTo"} xref: SCTID:79745005 {source="MONDO:equivalentTo", source="EFO:1001146", source="DOID:2548"} xref: SNOMEDCT:79745005 xref: UMLS:C0270857 {source="Orphanet:310/e", source="MONDO:equivalentTo", source="NCIT:C85041", source="DOID:2548", source="Orphanet:310"} is_a: MONDO:0100036 {source="DOID:2548", source="https://orcid.org/0000-0001-8486-0558"} ! variable age onset epilepsy property_value: exactMatch DOID:2548 property_value: exactMatch http://identifiers.org/mesh/D020195 property_value: exactMatch http://identifiers.org/snomedct/79745005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270857 property_value: exactMatch NCIT:C85041 property_value: exactMatch Orphanet:310 property_value: excluded_subClassOf MONDO:0020072 {source="Orphanet:310"} property_value: excluded_subClassOf MONDO:0020073 {source="Orphanet:310"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001147 name: reflex sympathetic dystrophy def: "A syndrome characterized by severe burning pain in an extremity accompanied by sudomotor, vasomotor, and trophic changes in bone without an associated specific nerve injury. This condition is most often precipitated by trauma to soft tissue or nerve complexes. The skin over the affected region is usually erythematous and demonstrates hypersensitivity to tactile stimuli and erythema. (Adams et al., Principles of Neurology, 6th ed, p1360; Pain 1995 Oct;63(1):127-33)" [] def: "Complex regional pain syndrome type 1 (CRPS1) is a form of complex regional pain syndrome in which the pain is disproportionate to any known inciting event and is characterized by continuous pain, allodynia, or hyperalgesia as well as edema, coloration (changes in skin blood flow), or abnormal sudomotor activity in the region of pain. Onset of CRPS1 symptoms may occur within a few days to a month after an injury or trauma to the affected limb." [Orphanet:99995] subset: ordo_clinical_subtype {source="Orphanet:99995"} synonym: "Algodystrophy" EXACT [Orphanet:99995] synonym: "Complex regional pain syndrome I" EXACT [NCIT:C85042] synonym: "complex regional pain syndrome type 1" EXACT [Orphanet:99995] synonym: "complex regional pain syndrome type 1" EXACT [] {comment="preferred label from MONDO"} synonym: "CRPS I" EXACT [NCIT:C85042] synonym: "CRPS1" EXACT ABBREVIATION [MONDO:cjm] synonym: "reflex neurovascular dystrophy" EXACT [NCIT:C85042] synonym: "Reflex Sympathetic Dystrophy" EXACT [] synonym: "reflex sympathetic dystrophy" EXACT [OMIM:604335, Orphanet:99995] synonym: "reflex sympathetic dystrophy syndrome" EXACT [NCIT:C85042] synonym: "RND" EXACT ABBREVIATION [NCIT:C85042] synonym: "RSDS" EXACT ABBREVIATION [NCIT:C85042] xref: DOID:1811 {source="EFO:1001147", source="MONDO:equivalentTo"} xref: ICD10CM:M89.0 {source="Orphanet:99995", source="Orphanet:99995/ntbt", source="DOID:1811", source="MONDO:directSiblingOf"} xref: ICD9:337.2 {source="EFO:1001147", source="DOID:1811"} xref: ICD9:337.20 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1811"} xref: ICD9:337.21 {source="DOID:1811"} xref: ICD9:337.29 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:733.7 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10038249 {source="EFO:1001147"} xref: MedDRA:10038253 xref: MedDRA:10064334 {source="Orphanet:99995", source="Orphanet:99995/e"} xref: MESH:D012019 {source="EFO:1001147", source="MONDO:equivalentTo", source="DOID:1811"} xref: MeSH:D012019 xref: MONDO:0011441 xref: NCIT:C85042 {source="MONDO:equivalentTo", source="DOID:1811"} xref: OMIM:604335 {source="Orphanet:99995", source="MONDO:equivalentTo", source="Orphanet:99995/e", source="DOID:1811"} xref: Orphanet:99995 {source="OMIM:604335", source="MONDO:equivalentTo"} xref: SCTID:50642008 {source="MONDO:equivalentTo", source="DOID:1811"} xref: UMLS:C0034931 {source="Orphanet:99995", source="OMIM:604335", source="MONDO:equivalentTo", source="NCIT:C85042", source="MONDO:ncbi_mim2gene_medline", source="DOID:1811"} is_a: EFO:1001998 {source="DOID:1811", source="MESH:D012019", source="Orphanet:99995"} ! complex regional pain syndrome is_a: MONDO:0002254 {source="NCIT:C85042"} ! syndromic disease property_value: closeMatch http://identifiers.org/meddra/10038249 property_value: closeMatch http://identifiers.org/meddra/10064334 property_value: exactMatch DOID:1811 property_value: exactMatch http://identifiers.org/mesh/D012019 property_value: exactMatch http://identifiers.org/snomedct/50642008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034931 property_value: exactMatch https://omim.org/entry/604335 property_value: exactMatch NCIT:C85042 property_value: exactMatch Orphanet:99995 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001148 name: relapsing polychondritis def: "A rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage with joint, ocular and cardiovascular involvement." [https://orcid.org/0000-0001-5208-3432, Orphanet:728] def: "An acquired disease of unknown etiology, chronic course, and tendency to recur. It is characterized by inflammation and degeneration of cartilage and can result in deformities such as floppy ear and saddle nose. Loss of cartilage in the respiratory tract can lead to respiratory obstruction." [] subset: gard_rare {source="GARD:0007417"} subset: ordo_disease {source="Orphanet:728"} synonym: "Chondromalacia, systemic" EXACT [] synonym: "chondromalacia, systemic" EXACT [DOID:2556] synonym: "chronic atrophic polychondritis" RELATED [GARD:0007417] synonym: "Polychondritis, Relapsing" EXACT [] synonym: "recurrent polychondritis" RELATED [GARD:0007417] synonym: "relapsing polychondritis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:2556 {source="MONDO:equivalentTo", source="EFO:1001148"} xref: ICD10:M94.1 xref: ICD10CM:M94.1 {source="DOID:2556", source="MONDO:equivalentTo", source="Orphanet:728", source="EFO:1001148", source="Orphanet:728/e"} xref: ICD9:733.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10038304 {source="Orphanet:728", source="EFO:1001148", source="Orphanet:728/e"} xref: MESH:D011081 {source="DOID:2556", source="MONDO:equivalentTo", source="Orphanet:728", source="EFO:1001148", source="Orphanet:728/e"} xref: MeSH:D011081 xref: MONDO:0019125 xref: NCIT:C157268 {source="MONDO:equivalentTo"} xref: Orphanet:728 {source="MONDO:equivalentTo"} xref: SCTID:72275000 {source="DOID:2556", source="MONDO:equivalentTo", source="EFO:1001148"} xref: SNOMEDCT:72275000 xref: UMLS:C0032453 {source="DOID:2556", source="MONDO:equivalentTo", source="Orphanet:728", source="Orphanet:728/e"} is_a: EFO:0005802 ! cartilage disease is_a: MONDO:0002342 {source="DOID:2556"} ! chondromalacia property_value: closeMatch http://identifiers.org/meddra/10038304 property_value: exactMatch DOID:2556 property_value: exactMatch http://identifiers.org/mesh/D011081 property_value: exactMatch http://identifiers.org/snomedct/72275000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032453 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/M94.1 property_value: exactMatch NCIT:C157268 property_value: exactMatch Orphanet:728 property_value: excluded_subClassOf MONDO:0019724 {source="Orphanet:728"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7417/relapsing-polychondritis xsd:anyURI {source="GARD:0007417"} [Term] id: EFO:1001149 name: renal aminoaciduria def: "A group of inherited kidney disorders characterized by the abnormally elevated levels of AMINO ACIDS in URINE. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the PROXIMAL RENAL TUBULES. Renal aminoaciduria are classified by the specific amino acid or acids involved." [] def: "A group of inherited kidney disorders characterized by the abnormally elevated levels of amino acids in urine. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the proximal renal tubules. Renal aminoaciduria are classified by the specific amino acid or acids involved." [MESH:D000608] synonym: "inborn renal aminoaciduria" EXACT [] synonym: "renal aminoaciduria" EXACT [] {comment="preferred label from MONDO"} synonym: "Renal Aminoacidurias" EXACT [] xref: DOID:1061 xref: MedDRA:10001939 {source="EFO:1001149"} xref: MESH:D000608 {source="MONDO:equivalentTo", source="EFO:1001149"} xref: MeSH:D000608 xref: MONDO:0006944 xref: SCTID:35912001 {source="MONDO:equivalentTo", source="EFO:1001149"} xref: SNOMEDCT:35912001 is_a: EFO:0003086 {source="EFO:1001149", source="MESH:D000608/inferred"} ! kidney disease property_value: closeMatch http://identifiers.org/meddra/10001939 property_value: exactMatch http://identifiers.org/mesh/D000608 property_value: exactMatch http://identifiers.org/snomedct/35912001 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001150 name: renal artery obstruction def: "Narrowing or occlusion of the RENAL ARTERY or arteries. It is due usually to ATHEROSCLEROSIS; FIBROMUSCULAR DYSPLASIA; THROMBOSIS; EMBOLISM, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (HYPERTENSION, RENOVASCULAR)." [] def: "Narrowing or occlusion of the renal artery or arteries. It is due usually to atherosclerosis; fibromuscular dysplasia; thrombosis; embolism, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (hypertension, renovascular)." [MESH:D012078] synonym: "Renal Artery Obstruction" EXACT [] synonym: "renal artery obstruction" EXACT [] {comment="preferred label from MONDO"} xref: DOID:2972 {source="MONDO:equivalentTo", source="EFO:1001150"} xref: MESH:D012078 {source="DOID:2972", source="MONDO:equivalentTo", source="EFO:1001150"} xref: MeSH:D012078 xref: MONDO:0006945 xref: UMLS:C0035066 {source="DOID:2972", source="MONDO:equivalentTo"} is_a: MONDO:0002286 {source="DOID:2972"} ! renal artery disease property_value: exactMatch DOID:2972 property_value: exactMatch http://identifiers.org/mesh/D012078 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035066 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001151 name: renal glycosuria def: "An autosomal inherited disorder due to defective reabsorption of GLUCOSE by the PROXIMAL RENAL TUBULES. The urinary loss of glucose can reach beyond 50 g/day. It is attributed to the mutations in the SODIUM-GLUCOSE TRANSPORTER 2 encoded by the SLC5A2 gene." [] synonym: "Glycosuria, Renal" EXACT [] synonym: "renal diabetes" EXACT [] xref: DOID:9432 xref: ICD9:271.4 xref: MedDRA:10038457 xref: MeSH:D006030 xref: SNOMEDCT:267430007 is_a: EFO:0003086 ! kidney disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001152 name: renal osteodystrophy def: "Abnormalities of bone mineral metabolism associated with chronic kidney disease." [NCIT:P378] def: "Decalcification of bone or abnormal bone development due to chronic KIDNEY DISEASES, in which 1,25-DIHYDROXYVITAMIN D3 synthesis by the kidneys is impaired, leading to reduced negative feedback on PARATHYROID HORMONE. The resulting SECONDARY HYPERPARATHYROIDISM eventually leads to bone disorders." [] synonym: "Osteodystrophies, renal" RELATED [MESH:D012080] synonym: "osteodystrophy, renal" RELATED [MESH:D012080] synonym: "renal Osteodystrophies" RELATED [MESH:D012080] synonym: "Renal Osteodystrophy" EXACT [] synonym: "renal osteodystrophy" EXACT [] {comment="preferred label from MONDO"} synonym: "renal rickets" EXACT [DOID:13068, MESH:D012080] synonym: "rickets, renal" RELATED [MESH:D012080] xref: DOID:13068 {source="EFO:1001152", source="MONDO:equivalentTo"} xref: ICD10:N25.0 xref: ICD10CM:N25.0 {source="EFO:1001152", source="MONDO:equivalentTo", source="DOID:13068"} xref: ICD9:588.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13068"} xref: MedDRA:10038489 {source="EFO:1001152"} xref: MESH:D012080 {source="EFO:1001152", source="MONDO:equivalentTo", source="DOID:13068"} xref: MeSH:D012080 xref: MONDO:0006946 xref: NCIt:C114827 xref: SCTID:16726004 {source="EFO:1001152", source="MONDO:equivalentTo", source="DOID:13068"} xref: SNOMEDCT:16726004 xref: UMLS:C0035086 {source="MONDO:equivalentTo", source="DOID:13068"} is_a: EFO:0005583 {source="MESH:D012080"} ! rickets is_a: MONDO:0001530 ! secondary hyperparathyroidism of renal origin property_value: closeMatch http://identifiers.org/meddra/10038489 property_value: exactMatch DOID:13068 property_value: exactMatch http://identifiers.org/mesh/D012080 property_value: exactMatch http://identifiers.org/snomedct/16726004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035086 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/N25.0 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001153 name: renovascular hypertension def: "High blood pressure secondary to renal artery stenosis." [NCIT:P378] def: "Hypertension due to RENAL ARTERY OBSTRUCTION or compression." [] synonym: "Hypertension, Renovascular" EXACT [] synonym: "renovascular hypertension" EXACT [MONDO:ambiguous] synonym: "renovascular hypertension" EXACT [] {comment="preferred label from MONDO"} synonym: "renovascular hypertension (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Renovascular hypertension (disorder)" EXACT [] xref: DOID:1591 {source="EFO:1001153", source="MONDO:equivalentTo"} xref: HP:0100817 {source="MONDO:otherHierarchy"} xref: ICD10CM:I15.0 {source="MONDO:equivalentTo", source="DOID:1591"} xref: ICD9:405.91 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10038562 xref: MeSH:D006978 xref: MONDO:0006947 xref: NCIt:C85044 xref: SCTID:123799005 {source="EFO:1001153", source="MONDO:equivalentTo", source="DOID:1591"} xref: SNOMEDCT:123799005 xref: UMLS:C0020545 {source="MONDO:equivalentTo", source="DOID:1591"} is_a: EFO:1002039 {source="DOID:1591", source="EFO:1001153"} ! renal hypertension property_value: exactMatch DOID:1591 property_value: exactMatch http://identifiers.org/snomedct/123799005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020545 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/I15.0 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000589 "renovascular hypertension (disease)" xsd:string [Term] id: EFO:1001154 name: retinal artery occlusion def: "An occlusion of the retinal artery." [NCIT:P378] def: "Sudden ISCHEMIA in the RETINA due to blocked blood flow through the CENTRAL RETINAL ARTERY or its branches leading to sudden complete or partial loss of vision, respectively, in the eye." [] synonym: "Retinal Artery Occlusion" EXACT [] synonym: "retinal artery occlusion" EXACT [] {comment="preferred label from MONDO"} synonym: "Retinal artery occlusion (disorder)" EXACT [] xref: DOID:8483 {source="EFO:1001154", source="MONDO:equivalentTo"} xref: MedDRA:10038827 {source="EFO:1001154"} xref: MESH:D015356 {source="EFO:1001154", source="MONDO:equivalentTo", source="DOID:8483"} xref: MeSH:D015356 xref: MONDO:0006948 xref: NCIT:C34978 {source="EFO:1001154", source="MONDO:equivalentTo", source="DOID:8483"} xref: NCIt:C34978 xref: SCTID:232035005 {source="EFO:1001154", source="MONDO:equivalentTo", source="DOID:8483"} xref: SNOMEDCT:232035005 xref: UMLS:C0035302 {source="MONDO:equivalentTo", source="DOID:8483", source="NCIT:C34978"} is_a: MONDO:0002089 {source="DOID:8483", source="NCIT:C34978"} ! retinal vascular occlusion property_value: closeMatch http://identifiers.org/meddra/10038827 property_value: exactMatch DOID:8483 property_value: exactMatch http://identifiers.org/mesh/D015356 property_value: exactMatch http://identifiers.org/snomedct/232035005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035302 property_value: exactMatch NCIT:C34978 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001155 name: retinal drusen def: "Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium." [MESH:D015593] synonym: "Basal laminar drusen" EXACT [] synonym: "Retinal Drusen" EXACT [] synonym: "retinal drusen" EXACT [] {comment="preferred label from MONDO"} xref: DOID:2569 {source="EFO:1001155", source="MONDO:equivalentTo"} xref: ICD9:362.57 {source="DOID:2569"} xref: MedDRA:10062776 {source="EFO:1001155"} xref: MESH:D015593 {source="EFO:1001155", source="MONDO:equivalentTo", source="DOID:2569"} xref: MeSH:D015593 xref: MONDO:0006949 xref: SCTID:247153005 {source="EFO:1001155", source="MONDO:equivalentTo", source="DOID:2569"} xref: SNOMEDCT:247153005 xref: UMLS:C0035312 {source="MONDO:equivalentTo", source="DOID:2569"} is_a: MONDO:0002175 {source="DOID:2569"} ! degeneration of macula and posterior pole property_value: closeMatch http://identifiers.org/meddra/10062776 property_value: exactMatch DOID:2569 property_value: exactMatch http://identifiers.org/mesh/D015593 property_value: exactMatch http://identifiers.org/snomedct/247153005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035312 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001156 name: retinal vasculitis def: "Inflammation of the retinal vasculature with various causes including infectious disease; LUPUS ERYTHEMATOSUS, SYSTEMIC; MULTIPLE SCLEROSIS; BEHCET SYNDROME; and CHORIORETINITIS." [] def: "Inflammation of the retinal vasculature with various causes including infectious disease; lupus erythematosus, systemic; multiple sclerosis; behcet syndrome; and chorioretinitis." [MESH:D031300] synonym: "Retinal Vasculitis" EXACT [] synonym: "Retinal vasculitis" EXACT [] synonym: "retinal vasculitis" EXACT [] {comment="preferred label from MONDO"} synonym: "retinal vasculitis" EXACT [DOID:11563, ICD9CM:362.18] synonym: "Retinal vasculitis (disorder)" EXACT [] synonym: "Retinal vasculitis NOS (disorder)" EXACT [] xref: DOID:11563 {source="EFO:1001156", source="MONDO:equivalentTo"} xref: ICD9:362.18 {source="EFO:1001156", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11563"} xref: MedDRA:10038905 {source="EFO:1001156"} xref: MESH:D031300 {source="EFO:1001156", source="MONDO:equivalentTo", source="DOID:11563"} xref: MeSH:D031300 xref: MONDO:0006950 xref: SCTID:77628002 {source="EFO:1001156", source="MONDO:equivalentTo", source="DOID:11563"} xref: SNOMEDCT:77628002 xref: UMLS:C0152026 {source="MONDO:equivalentTo", source="DOID:11563"} is_a: EFO:0006803 {source="DOID:11563", source="EFO:1001156", source="MESH:D031300", source="MONDO:Redundant"} ! vasculitis is_a: MONDO:0002311 {source="DOID:11563"} ! retinal vascular disorder is_a: MONDO:0002708 ! retinitis property_value: closeMatch http://identifiers.org/meddra/10038905 property_value: exactMatch DOID:11563 property_value: exactMatch http://identifiers.org/mesh/D031300 property_value: exactMatch http://identifiers.org/snomedct/77628002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152026 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001157 name: retinal vein occlusion def: "An occlusion of the retinal vein." [NCIT:P378] def: "Blockage of the RETINAL VEIN. Those at high risk for this condition include patients with HYPERTENSION; DIABETES MELLITUS; ATHEROSCLEROSIS; and other CARDIOVASCULAR DISEASES." [] synonym: "Occlusion, of retinal vein" EXACT [] synonym: "occlusion, of retinal vein" EXACT [DOID:1727] synonym: "Retinal Vein Occlusion" EXACT [] synonym: "Retinal vein occlusion" EXACT [] synonym: "retinal vein occlusion" EXACT [] {comment="preferred label from MONDO"} synonym: "retinal vein occlusion" EXACT [DOID:1727] xref: DOID:1727 {source="MONDO:equivalentTo", source="EFO:1001157"} xref: ICD10:H34 xref: MedDRA:10038907 {source="EFO:1001157"} xref: MESH:D012170 {source="MONDO:equivalentTo", source="EFO:1001157", source="DOID:1727"} xref: MeSH:D012170 xref: MONDO:0006951 xref: NCIT:C34981 {source="MONDO:equivalentTo", source="EFO:1001157", source="DOID:1727"} xref: NCIt:C34981 xref: SCTID:46085004 {source="MONDO:equivalentTo", source="DOID:1727"} xref: UMLS:C0035328 {source="MONDO:equivalentTo", source="NCIT:C34981", source="DOID:1727"} is_a: MONDO:0002089 {source="DOID:1727", source="NCIT:C34981"} ! retinal vascular occlusion property_value: closeMatch http://identifiers.org/meddra/10038907 property_value: exactMatch DOID:1727 property_value: exactMatch http://identifiers.org/mesh/D012170 property_value: exactMatch http://identifiers.org/snomedct/46085004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035328 property_value: exactMatch NCIT:C34981 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001158 name: retinopathy of prematurity def: "A bilateral retinopathy characterized by neovascularization, scarring, retinal detachment, and eventually blindness. It may be mild or severe. It occurs in babies born prematurely. Causes include oxygen toxicity and hypoxia." [NCIT:P378] def: "A bilateral retinopathy occurring in premature infants treated with excessively high concentrations of oxygen, characterized by vascular dilatation, proliferation, and tortuosity, edema, and retinal detachment, with ultimate conversion of the retina into a fibrous mass that can be seen as a dense retrolental membrane. Usually growth of the eye is arrested and may result in microophthalmia, and blindness may occur. (Dorland, 27th ed)" [] subset: ordo_disease {source="Orphanet:90050"} synonym: "premature retinopathy" EXACT [DOID:13025] synonym: "Retinopathy of Prematurity" EXACT [] synonym: "Retinopathy of prematurity" EXACT [] synonym: "retinopathy of prematurity" EXACT [] {comment="preferred label from MONDO"} synonym: "Retinopathy of prematurity (disorder)" EXACT [] synonym: "Retrolental Fibroplasia" EXACT [] synonym: "Retrolental fibroplasia" EXACT [] synonym: "retrolental fibroplasia" EXACT [DOID:13025, ICD9CM:362.21, Orphanet:90050] synonym: "Retrolental fibroplasia (disorder)" EXACT [] synonym: "ROP" EXACT ABBREVIATION [OMIM:133780, Orphanet:90050] synonym: "Terry syndrome" EXACT [NCIT:C34982] xref: DOID:13025 {source="EFO:1001158", source="MONDO:equivalentTo"} xref: ICD10:H35.1 xref: ICD9:362.20 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13025"} xref: ICD9:362.21 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13025"} xref: MedDRA:10038933 {source="Orphanet:90050", source="EFO:1001158", source="Orphanet:90050/e"} xref: MESH:D012178 {source="Orphanet:90050", source="EFO:1001158", source="MONDO:equivalentTo", source="Orphanet:90050/e", source="DOID:13025"} xref: MeSH:D012178 xref: MONDO:0006952 xref: NCIT:C34982 {source="EFO:1001158", source="MONDO:equivalentTo", source="DOID:13025"} xref: NCIt:C34982 xref: Orphanet:90050 {source="MONDO:equivalentTo"} xref: SCTID:415297005 {source="EFO:1001158", source="MONDO:equivalentTo", source="DOID:13025"} xref: SNOMEDCT:415297005 xref: UMLS:C0035344 {source="Orphanet:90050", source="MONDO:equivalentTo", source="Orphanet:90050/e", source="NCIT:C34982", source="DOID:13025"} is_a: EFO:0003839 {source="DOID:13025", source="EFO:1001158", source="MESH:D012178", source="NCIT:C34982"} ! retinopathy relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120"} ! rare property_value: closeMatch http://identifiers.org/meddra/10038933 property_value: exactMatch DOID:13025 property_value: exactMatch http://identifiers.org/mesh/D012178 property_value: exactMatch http://identifiers.org/snomedct/415297005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035344 property_value: exactMatch NCIT:C34982 property_value: exactMatch Orphanet:90050 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001159 name: Rh isoimmunization def: "The mother develops antibodies against red blood cell Rhesus antigens. This may lead to potential fetal adverse outcomes such as anemia." [NCIT:P378] def: "The process by which fetal Rh+ erythrocytes enter the circulation of an Rh- mother, causing her to produce IMMUNOGLOBULIN G antibodies, which can cross the placenta and destroy the erythrocytes of Rh+ fetuses. Rh isoimmunization can also be caused by BLOOD TRANSFUSION with mismatched blood." [] synonym: "Rh incompatibility affecting management of mother" EXACT [DOID:4175] synonym: "Rh Isoimmunization" EXACT [] synonym: "Rh isoimmunization" EXACT [] {comment="preferred label from MONDO"} xref: DOID:4175 {source="MONDO:equivalentTo", source="EFO:1001159"} xref: MedDRA:10039016 {source="EFO:1001159"} xref: MeSH:D012203 xref: MONDO:0006953 xref: SCTID:44795003 {source="MONDO:equivalentTo", source="DOID:4175"} xref: UMLS:C0035404 {source="MONDO:equivalentTo", source="DOID:4175"} is_a: MONDO:0002901 {source="DOID:4175"} ! blood group incompatibility property_value: closeMatch http://identifiers.org/meddra/10039016 property_value: exactMatch DOID:4175 property_value: exactMatch http://identifiers.org/snomedct/44795003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035404 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001160 name: rheumatic fever def: "A febrile disease occurring as a delayed sequela of infections with STREPTOCOCCUS PYOGENES. It is characterized by multiple focal inflammatory lesions of the connective tissue structures, such as the heart, blood vessels, and joints (POLYARTHRITIS) and brain, and by the presence of ASCHOFF BODIES in the myocardium and skin." [] def: "A post-bacterial multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis." [Orphanet:3099] subset: gard_rare {source="GARD:0005699"} subset: ordo_disease {source="Orphanet:3099"} synonym: "ACUTE RHEUMATIC FEVER" EXACT [] synonym: "acute rheumatic fever" EXACT [DOID:1586, ICD9CM:390-392.99, Orphanet:3099] synonym: "ARF" EXACT ABBREVIATION [NCIT:C34984] synonym: "inflammatory rheumatism" RELATED [GARD:0005699] synonym: "Rheumatic Fever" EXACT [] synonym: "rheumatic fever" EXACT [] {comment="preferred label from MONDO"} synonym: "RHF - rheumatic fever" EXACT [DOID:1586] synonym: "RhF - Rheumatic fever" EXACT [] xref: DOID:1586 {source="MONDO:equivalentTo", source="EFO:1001160"} xref: ICD10:I00 xref: ICD10CM:I00-I02 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="DOID:1586", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:390 {source="DOID:1586"} xref: ICD9:390-392.99 {source="DOID:1586"} xref: MedDRA:10003088 xref: MedDRA:10039054 {source="Orphanet:3099/e", source="Orphanet:3099", source="EFO:1001160"} xref: MESH:D012213 {source="DOID:1586", source="Orphanet:3099/e", source="MONDO:equivalentTo", source="Orphanet:3099", source="EFO:1001160"} xref: MeSH:D012213 xref: MONDO:0017767 xref: NCIT:C34984 {source="DOID:1586", source="MONDO:equivalentTo", source="EFO:1001160"} xref: NCIt:C34984 xref: Orphanet:3099 {source="MONDO:equivalentTo"} xref: SCTID:58718002 {source="DOID:1586", source="MONDO:equivalentTo", source="EFO:1001160"} xref: SCTID:81077008 {source="MONDO:relatedTo", source="DOID:1586"} xref: SNOMEDCT:58718002 xref: UMLS:C0035436 {source="DOID:1586", source="Orphanet:3099/e", source="MONDO:equivalentTo", source="NCIT:C34984", source="Orphanet:3099"} is_a: EFO:0005755 {source="MESH:D012213", source="Orphanet:3099"} ! rheumatic disease is_a: MONDO:0021673 {source="https://orcid.org/0000-0001-5208-3432"} ! post-bacterial disorder property_value: closeMatch http://identifiers.org/meddra/10039054 property_value: exactMatch DOID:1586 property_value: exactMatch http://identifiers.org/mesh/D012213 property_value: exactMatch http://identifiers.org/snomedct/58718002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035436 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/I00-I02 property_value: exactMatch NCIT:C34984 property_value: exactMatch Orphanet:3099 property_value: excluded_subClassOf MONDO:0003900 {source="DOID:1586", source="MESH:D012213/inferred"} property_value: excluded_subClassOf MONDO:0005113 {source="MESH:D012213/inferred", source="NCIT:C34984"} property_value: excluded_subClassOf MONDO:0005172 {source="EFO:1001160"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5699/rheumatic-fever xsd:anyURI {source="GARD:0005699"} [Term] id: EFO:1001161 name: rheumatic heart disease def: "An autoinflammatory condition following an infection with Group A Beta Hemolytic Streptococcus (GABHS), in which the heart is attacked by antibodies formed in reaction to a recent GABHS infection. Chief anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords, all of which can result in valvular dysfunction." [NCIT:C34882] def: "Cardiac manifestation of systemic rheumatological conditions, such as RHEUMATIC FEVER. Rheumatic heart disease can involve any part the heart, most often the HEART VALVES and the ENDOCARDIUM." [] synonym: "disease, rheumatic heart" EXACT [NCIT:C34882] synonym: "heart disease, rheumatic" EXACT [NCIT:C34882] synonym: "RHD" EXACT ABBREVIATION [NCIT:C34882] synonym: "Rheumatic carditis" EXACT [] synonym: "rheumatic carditis" EXACT [DOID:0050827] synonym: "Rheumatic Heart Disease" EXACT [] synonym: "rheumatic heart disease" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0050827 {source="MONDO:equivalentTo"} xref: DOID:9814 xref: ICD10:I01 xref: ICD10:I09 xref: ICD9:398.90 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:398.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10039060 xref: MedDRA:10039061 xref: MedDRA:10062110 {source="EFO:1001161"} xref: MESH:D012214 {source="MONDO:equivalentTo", source="EFO:1001161"} xref: MeSH:D012214 xref: MONDO:0006955 xref: NCIT:C34882 {source="MONDO:equivalentTo", source="EFO:1001161"} xref: NCIt:C34882 xref: SCTID:23685000 {source="MONDO:equivalentTo", source="EFO:1001161"} xref: SNOMEDCT:23685000 is_a: EFO:0003777 ! heart disease is_a: EFO:0009903 ! inflammatory disease property_value: closeMatch http://identifiers.org/meddra/10062110 property_value: exactMatch DOID:0050827 property_value: exactMatch http://identifiers.org/mesh/D012214 property_value: exactMatch http://identifiers.org/snomedct/23685000 property_value: exactMatch NCIT:C34882 property_value: excluded_subClassOf MONDO:0002869 {source="DOID:0050827"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001162 name: rickettsiosis def: "A group of infectious diseases that is caused by Rickettsia." [NCIT:C34991] def: "Infections by the genus RICKETTSIA." [] comment: We classify this using the NCBI Taxon for Rickettsiales to include ehlrichosis and scrub typhus subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:102021"} synonym: "flea-borne rickettsiosis" EXACT [] synonym: "infection, Rickettsia" EXACT [MESH:D012282] synonym: "infections, Rickettsia" EXACT [MESH:D012282] synonym: "mite-borne rickettsiosis" EXACT [] synonym: "Rickettsia caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Rickettsia disease or disorder" EXACT [] synonym: "Rickettsia infection" EXACT [MESH:D012282] synonym: "Rickettsia Infections" EXACT [] synonym: "Rickettsia infectious disease" EXACT [] synonym: "Rickettsiae disease" EXACT [Orphanet:102021] synonym: "Rickettsial disease" EXACT [MONDO:0015154] synonym: "Rickettsial infectious disease" EXACT [NCIT:C34991] synonym: "Rickettsial infectious disorder" EXACT [NCIT:C34991] synonym: "Rickettsiosis" EXACT [NCIT:C34991] synonym: "Rickettsiosis" EXACT [] {comment="preferred label from MONDO"} synonym: "rickettsiosis" EXACT [] synonym: "tick-borne rickettsiosis" EXACT [] xref: DOID:1709 xref: ICD10:A79 xref: ICD10CM:A75-A79 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:083.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10039140 xref: MedDRA:10061495 {source="EFO:1001162"} xref: MESH:D012282 {source="EFO:1001162", source="MONDO:equivalentTo"} xref: MeSH:D012282 xref: MONDO:0006956 xref: NCIT:C34991 {source="EFO:1001162", source="MONDO:equivalentTo"} xref: NCIt:C34991 xref: Orphanet:102021 {source="MONDO:equivalentTo"} xref: SCTID:37246009 {source="MONDO:equivalentTo"} xref: SNOMEDCT:416829003 xref: UMLS:C0035585 {source="MONDO:equivalentTo", source="NCIT:C34991", source="Orphanet:102021"} is_a: EFO:0000771 {source="EFO:1001162", source="MESH:D012282/inferred", source="MONDO:Redundant", source="NCIT:C34991", source="Orphanet:102021"} ! bacterial disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare property_value: closeMatch http://identifiers.org/meddra/10061495 property_value: exactMatch http://identifiers.org/mesh/D012282 property_value: exactMatch http://identifiers.org/snomedct/37246009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035585 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A75-A79 property_value: exactMatch NCIT:C34991 property_value: exactMatch Orphanet:102021 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001163 name: root caries def: "Dental caries involving the tooth root, cementum, or cervical area of the tooth." [MESH:D017213] synonym: "cementum caries" EXACT [DOID:14089] synonym: "Cementum caries (disorder)" EXACT [] synonym: "cementum dental caries" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "dental caries of cementum" EXACT [MONDO:design_pattern] synonym: "Dental caries of root surface" EXACT [] synonym: "dental caries of root surface" EXACT [DOID:14089, ICD9CM:521.08] synonym: "Root Caries" EXACT [] synonym: "Root caries" EXACT [] synonym: "root caries" EXACT [] {comment="preferred label from MONDO"} synonym: "root caries" EXACT [DOID:14089] xref: DOID:14089 {source="EFO:1001163", source="MONDO:equivalentTo"} xref: ICD9:521.08 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14089"} xref: MESH:D017213 {source="EFO:1001163", source="MONDO:equivalentTo", source="DOID:14089"} xref: MeSH:D017213 xref: MONDO:0006957 xref: SCTID:30512007 {source="MONDO:equivalentTo", source="DOID:14089"} xref: UMLS:C0162644 {source="MONDO:equivalentTo", source="DOID:14089"} is_a: MONDO:0002233 ! enamel caries property_value: exactMatch DOID:14089 property_value: exactMatch http://identifiers.org/mesh/D017213 property_value: exactMatch http://identifiers.org/snomedct/30512007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162644 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001164 name: SAPHO syndrome def: "SAPHO syndrome (acronym for Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis) is an auto-inflammatory disease, mainly characterized by the association of neutrophilic cutaneous involvement and chronic osteomyelitis." [Orphanet:793] def: "Syndrome consisting of SYNOVITIS; ACNE CONGLOBATA; PALMOPLANTAR PUSTULOSIS; HYPEROSTOSIS; and OSTEITIS. The most common site of the disease is the upper anterior chest wall, characterized by predominantly osteosclerotic lesions, hyperostosis, and arthritis of the adjacent joints. The association of sterile inflammatory bone lesions and neutrophilic skin eruptions is indicative of this syndrome." [] subset: gard_rare {source="GARD:0007606"} subset: ordo_disease {source="Orphanet:793"} synonym: "Acquired Hyperostosis Syndrome" EXACT [] synonym: "acquired hyperostosis syndrome" RELATED [GARD:0007606] synonym: "PPHS" EXACT ABBREVIATION [NCIT:C119049] synonym: "Pustulo-psoriatic hyperostotic Spondyloarthritis" EXACT [NCIT:C119049] synonym: "SAPHO syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "synovitis acne pustulosis hyperostosis osteitis" RELATED [GARD:0007606] synonym: "synovitis, acne, Pustlosis, hyperostosis, and osteomyelitis" RELATED [GARD:0007606] synonym: "Synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome" EXACT [] synonym: "synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome" EXACT [DOID:13677] synonym: "synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome" EXACT [NCIT:C119049] synonym: "synovitis-acne-pustulosis-hyperostosis-osteitis syndrome" EXACT [Orphanet:793] xref: DOID:13677 {source="EFO:1001164", source="MONDO:equivalentTo"} xref: ICD9:706.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10051316 {source="Orphanet:793/e", source="EFO:1001164", source="Orphanet:793"} xref: MESH:D020083 {source="EFO:1001164", source="MONDO:equivalentTo", source="DOID:13677"} xref: MeSH:D020083 xref: MONDO:0019266 xref: NCIT:C119049 {source="EFO:1001164", source="MONDO:equivalentTo", source="DOID:13677"} xref: NCIt:C119049 xref: Orphanet:793 {source="MONDO:equivalentTo"} xref: SCTID:60684003 {source="EFO:1001164", source="MONDO:equivalentTo", source="DOID:13677"} xref: SNOMEDCT:60684003 xref: UMLS:C0263859 {source="MONDO:equivalentTo", source="Orphanet:793", source="DOID:13677"} is_a: MONDO:0017954 {source="Orphanet:793"} ! pyogenic autoinflammatory syndrome property_value: closeMatch http://identifiers.org/meddra/10051316 property_value: exactMatch DOID:13677 property_value: exactMatch http://identifiers.org/mesh/D020083 property_value: exactMatch http://identifiers.org/snomedct/60684003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263859 property_value: exactMatch NCIT:C119049 property_value: exactMatch Orphanet:793 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7606/sapho-syndrome xsd:anyURI {source="GARD:0007606"} [Term] id: EFO:1001165 name: Schnitzler syndrome def: "A rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response." [Orphanet:37748] def: "An extremely rare condition manifested as monoclonal IMMUNOGLOBULIN M dysproteinemia without features of lymphoproliferative disease, but with chronic urticaria, fever of unknown origin, disabling bone pain, hyperostosis, and increased erythrocyte sedimentation rate." [] subset: gard_rare {source="GARD:0012390"} subset: ordo_malformation_syndrome {source="Orphanet:37748"} synonym: "chronic urticaria with gammapathy" RELATED [GARD:0012390] synonym: "chronic urticaria with gammopathy" EXACT [Orphanet:37748] synonym: "chronic urticaria with macroglobulinemia" EXACT [Orphanet:37748] synonym: "Schnitzler Syndrome" EXACT [] synonym: "Schnitzler syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Schnitzler syndrome (disorder)" EXACT [] xref: DOID:4371 {source="EFO:1001165", source="MONDO:equivalentTo"} xref: ICD9:708.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10062908 {source="Orphanet:37748", source="Orphanet:37748/e"} xref: MESH:D019873 {source="EFO:1001165", source="Orphanet:37748", source="MONDO:equivalentTo", source="Orphanet:37748/e", source="DOID:4371"} xref: MeSH:D019873 xref: MONDO:0018304 xref: Orphanet:37748 {source="MONDO:equivalentTo"} xref: SCTID:402415001 {source="EFO:1001165", source="MONDO:equivalentTo", source="DOID:4371"} xref: SNOMEDCT:402415001 xref: UMLS:C0524988 {source="Orphanet:37748", source="MONDO:equivalentTo", source="Orphanet:37748/e", source="DOID:4371"} is_a: EFO:0000540 ! immune system disease is_a: MONDO:0019751 {source="GARD:0012390"} ! autoinflammatory syndrome property_value: closeMatch http://identifiers.org/meddra/10062908 property_value: exactMatch DOID:4371 property_value: exactMatch http://identifiers.org/mesh/D019873 property_value: exactMatch http://identifiers.org/snomedct/402415001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0524988 property_value: exactMatch Orphanet:37748 property_value: excluded_subClassOf MONDO:0002459 {source="DOID:4371"} property_value: excluded_subClassOf MONDO:0005492 {source="Orphanet:37748"} property_value: excluded_subClassOf MONDO:0015158 {source="Orphanet:37748"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12390/schnitzler-syndrome xsd:anyURI {source="GARD:0012390"} [Term] id: EFO:1001166 name: sciatic neuropathy def: "Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363)" [MESH:D020426] synonym: "Sciatic Neuropathy" EXACT [] synonym: "sciatic neuropathy" EXACT [] {comment="preferred label from MONDO"} xref: DOID:11446 {source="EFO:1001166", source="MONDO:equivalentTo"} xref: MedDRA:10048950 {source="EFO:1001166"} xref: MESH:D020426 {source="DOID:11446", source="EFO:1001166", source="MONDO:equivalentTo"} xref: MeSH:D020426 xref: MONDO:0006960 xref: SCTID:52585001 {source="DOID:11446", source="EFO:1001166", source="MONDO:equivalentTo"} xref: SNOMEDCT:52585001 xref: UMLS:C0149940 {source="DOID:11446", source="MONDO:equivalentTo"} is_a: EFO:0009558 {source="DOID:11446/inferred", source="MESH:D020426"} ! mononeuropathy property_value: closeMatch http://identifiers.org/meddra/10048950 property_value: exactMatch DOID:11446 property_value: exactMatch http://identifiers.org/mesh/D020426 property_value: exactMatch http://identifiers.org/snomedct/52585001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149940 property_value: excluded_subClassOf MONDO:0001543 {source="DOID:11446"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001167 name: scimitar syndrome def: "An anomalous pulmonary venous return in which the right PULMONARY VEIN is not connected to the LEFT ATRIUM but to the INFERIOR VENA CAVA. Scimitar syndrome is named for the crescent- or Turkish sword-like shadow in the chest radiography and is often associated with hypoplasia of the right lung and right pulmonary artery, and dextroposition of the heart." [] def: "Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt." [Orphanet:185] subset: ordo_malformation_syndrome {source="Orphanet:185"} synonym: "congenital pulmonary venolobar syndrome" EXACT [Orphanet:185] synonym: "Epibronchial right pulmonary vein syndrome" EXACT [Orphanet:185] synonym: "Halasz syndrome" EXACT [Orphanet:185] synonym: "hypogenetic lung syndrome" EXACT [Orphanet:185] synonym: "pulmonary venolobar syndrome" EXACT [] synonym: "Scimitar Syndrome" EXACT [] synonym: "scimitar syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "total anomalous pulmonary venous return" EXACT [] xref: DOID:4297 xref: ICD9:747.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10051951 {source="Orphanet:185/e", source="Orphanet:185"} xref: MESH:D012587 {source="Orphanet:185/e", source="MONDO:equivalentTo", source="Orphanet:185"} xref: MeSH:D012587 xref: MONDO:0015987 xref: NCIT:C85056 {source="MONDO:equivalentTo"} xref: NCIt:C85056 xref: Orphanet:185 {source="MONDO:equivalentTo"} xref: SCTID:39905002 {source="MONDO:equivalentTo"} xref: SNOMEDCT:39905002 xref: UMLS:C0036400 {source="Orphanet:185/e", source="MONDO:equivalentTo", source="NCIT:C85056", source="Orphanet:185"} is_a: MONDO:0002254 {source="NCIT:C85056"} ! syndromic disease is_a: MONDO:0017705 {source="MONDO:cjm"} ! congenital pulmonary venous return anomaly is_a: MONDO:0020292 {source="Orphanet:185"} ! congenital anomaly of the great arteries property_value: closeMatch http://identifiers.org/meddra/10051951 property_value: exactMatch http://identifiers.org/mesh/D012587 property_value: exactMatch http://identifiers.org/snomedct/39905002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036400 property_value: exactMatch NCIT:C85056 property_value: exactMatch Orphanet:185 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001168 name: scrapie def: "A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called PRIONS." [] def: "A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called prions." [MESH:D012608] synonym: "Scrapie" EXACT [] synonym: "scrapie" EXACT [] {comment="preferred label from MONDO"} xref: DOID:5434 {source="MONDO:equivalentTo", source="EFO:1001168"} xref: MESH:D012608 {source="DOID:5434", source="MONDO:equivalentTo", source="EFO:1001168"} xref: MeSH:D012608 xref: MONDO:0006961 xref: UMLS:C0036457 {source="DOID:5434", source="MONDO:equivalentTo"} is_a: EFO:0004720 {source="DOID:5434", source="EFO:1001168", source="MESH:D012608"} ! prion disease property_value: exactMatch DOID:5434 property_value: exactMatch http://identifiers.org/mesh/D012608 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036457 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001169 name: scurvy def: "A condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include general weakness, fatigue and aching limbs. If left untreated, more serious problems can develop such as anemia, gum disease, and skin hemorrhages. Symptoms generally develop after at least 3 months of severe or total vitamin C deficiency. Scurvy can be cured with vitamin C supplements taken by mouth. Once recovery is complete, dietary modifications to ensure the 'recommended daily intake' of vitamin C is reached will prevent relapse. Except in the case of severe dental disease, permanent damage from scurvy does not usually occur." [https://rarediseases.info.nih.gov/diseases/10406/scurvy] def: "An acquired blood vessel disorder caused by severe deficiency of vitamin C (ASCORBIC ACID) in the diet leading to defective collagen formation in small blood vessels. Scurvy is characterized by bleeding in any tissue, weakness, ANEMIA, spongy gums, and a brawny induration of the muscles of the calves and legs." [] comment: An argument can be made that Vitamin C deficiency is a genetic disease shared by all humans, due to our loss of the GULO gene. See OMIM for discussion. Here we choose not to treat as genetic. subset: gard_rare {source="GARD:0010406"} synonym: "ascorbic acid deficiency" EXACT [MONDO:0006661] synonym: "deficiency of vitamin C" EXACT [GARD:0010406] synonym: "Gulo, nonfunctional" RELATED [OMIM:240400] synonym: "hypoascorbemia" RELATED [OMIM:240400] synonym: "L-gulonolactone oxidase pseudogene" RELATED [OMIM:240400] synonym: "L-gulonolactone oxidase, nonfunctional" RELATED [OMIM:240400] synonym: "scorbutus" RELATED [GARD:0010406] synonym: "Scurvy" EXACT [] synonym: "scurvy" EXACT [NCIT:C35010, OMIM:240400] synonym: "scurvy" EXACT [] {comment="preferred label from MONDO"} synonym: "vitamin C deficiency" EXACT [GARD:0010406, NCIT:C35010] synonym: "vitamin C, inability to synthesise" RELATED OMO:0003005 [] synonym: "vitamin C, inability to synthesize" RELATED [OMIM:240400] xref: DOID:13577 {source="MONDO:equivalentObsolete", source="EFO:1000822"} xref: DOID:13724 {source="EFO:1001169", source="MONDO:equivalentTo"} xref: EFO:1000822 {source="MONDO:equivalentTo"} xref: ICD10CM:E54 {source="DOID:13724", source="MONDO:equivalentTo", source="EFO:1000822"} xref: ICD9:267 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10039768 {source="EFO:1001169"} xref: MedDRA:10047623 {source="EFO:1000822"} xref: MESH:D001206 {source="MONDO:equivalentTo", source="EFO:1000822"} xref: MESH:D012614 {source="DOID:13724", source="EFO:1001169", source="MONDO:equivalentTo"} xref: MeSH:D012614 xref: MONDO:0009412 xref: NCIT:C35010 {source="DOID:13724", source="EFO:1001169", source="MONDO:equivalentTo"} xref: NCIt:C35010 xref: OMIM:240400 {source="DOID:13724", source="MONDO:equivalentTo"} xref: SCTID:76169001 {source="DOID:13724", source="MONDO:equivalentTo", source="EFO:1000822"} xref: UMLS:C0036474 {source="NCIT:C35010", source="DOID:13724", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:240400"} is_a: MONDO:0024298 {source="MESH:D012614/inferred", source="NCIT:C35010"} ! vitamin deficiency disorder is_a: MONDO:0037792 ! carbohydrate metabolism disease is_a: MONDO:0045022 ! disorder of organic acid metabolism property_value: closeMatch http://identifiers.org/meddra/10039768 property_value: closeMatch http://identifiers.org/meddra/10047623 property_value: exactMatch DOID:13724 property_value: exactMatch http://identifiers.org/mesh/D001206 property_value: exactMatch http://identifiers.org/mesh/D012614 property_value: exactMatch http://identifiers.org/snomedct/76169001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036474 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E54 property_value: exactMatch https://omim.org/entry/240400 property_value: exactMatch NCIT:C35010 property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4684 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10406/scurvy xsd:anyURI {source="GARD:0010406"} [Term] id: EFO:1001170 name: obsolete_sea-blue histiocyte syndrome def: "A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining." [] synonym: "Sea-Blue Histiocyte Syndrome" EXACT [] synonym: "Sea-blue histiocyte syndrome (disorder)" EXACT [] xref: DOID:4423 xref: MeSH:D012618 xref: NCIt:C85062 xref: SNOMEDCT:37821003 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.98" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication\nUse http://www.orpha.net/ORDO/Orphanet_158029\nLabel : Sea-blue histiocytosis" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_158029 [Term] id: EFO:1001171 name: sebaceous adenocarcinoma def: "An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize." [NCIT:C40310] comment: We follow NCIT and treat sebaceous carcinoma and sebaceous adenocarcinoma as equivalent. synonym: "adenocarcinoma of the sebaceous gland" EXACT [DOID:4839, NCIT:C3767] synonym: "adenocarcinoma, sebaceous, malignant" EXACT [NCIT:C40310] synonym: "carcinoma of sebaceous gland" EXACT [NCIT:C40310] synonym: "carcinoma of the sebaceous gland" EXACT [NCIT:C40310] synonym: "malignant sebaceous tumor" EXACT [DOID:4840, NCIT:C8409] synonym: "malignant sebaceous tumor" NARROW [DOID:4840, NCIT:C8409] synonym: "malignant sebaceous tumour" NARROW OMO:0003005 [] synonym: "Seba" RELATED [ONCOTREE:SEBA] synonym: "sebaceous adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "sebaceous adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "sebaceous cancer" EXACT [NCIT:C40310] synonym: "sebaceous carcinoma" EXACT [DOID:4839, MONDO:0003160, NCIT:C40310] synonym: "sebaceous gland adenocarcinoma" EXACT [MONDO:patterns/location] synonym: "sebaceous gland carcinoma" EXACT [NCIT:C40310] xref: DOID:4839 {source="MONDO:equivalentTo", source="EFO:1001171"} xref: DOID:4840 {source="MONDO:equivalentTo"} xref: EFO:1001171 {source="MONDO:equivalentTo"} xref: ICD10:C44 {source="DOID:4840"} xref: ICDO:8410/3 {source="NCIT:C40310"} xref: MESH:D018266 {source="MONDO:equivalentTo", source="DOID:4839", source="EFO:1001171"} xref: MONDO:0006962 xref: NCIT:C40310 {source="MONDO:equivalentTo", source="DOID:4839"} xref: NCIT:C8409 {source="DOID:4840", source="MONDO:directSiblingOf"} xref: ONCOTREE:SEBA {source="MONDO:equivalentTo"} xref: SCTID:307599002 {source="MONDO:equivalentTo", source="DOID:4839"} xref: UMLS:C0206684 {source="MONDO:equivalentTo", source="DOID:4839", source="NCIT:C40310"} xref: UMLS:C1382026 {source="DOID:4840", source="MONDO:directSiblingOf"} is_a: EFO:0000228 {source="EFO:1001171", source="MESH:D018266", source="MONDO:Redundant", source="NCIT:C40310"} ! adenocarcinoma is_a: EFO:1001183 {source="MONDO:Redundant", source="NCIT:C40310"} ! skin appendage carcinoma is_a: MONDO:0037735 ! sebaceous gland cancer property_value: closeMatch http://identifiers.org/snomedct/188083002 property_value: closeMatch http://identifiers.org/snomedct/255094009 property_value: closeMatch http://identifiers.org/snomedct/54734006 property_value: exactMatch DOID:4839 property_value: exactMatch DOID:4839 property_value: exactMatch DOID:4840 property_value: exactMatch DOID:4840 property_value: exactMatch http://identifiers.org/mesh/D018266 property_value: exactMatch http://identifiers.org/mesh/D018266 property_value: exactMatch http://identifiers.org/snomedct/307599002 property_value: exactMatch http://identifiers.org/snomedct/307599002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206684 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206684 property_value: exactMatch NCIT:C40310 property_value: exactMatch NCIT:C40310 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/adenocarcinoma.yaml [Term] id: EFO:1001172 name: sebaceous gland neoplasm def: "A benign or malignant neoplasm that arises from the sebaceous glands. Representative examples include sebaceous adenoma and sebaceous carcinoma." [NCIT:C3363] def: "neoplasm in the sebaceous gland" [] synonym: "benign neoplasm of sebaceous gland" EXACT [] synonym: "neoplasm of sebaceous gland" EXACT [MONDO:patterns/neoplasm] synonym: "sebaceous gland neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "sebaceous gland neoplasm" EXACT [NCIT:C3363] synonym: "sebaceous gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "Sebaceous Gland Neoplasms" EXACT [] synonym: "sebaceous gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3363] synonym: "sebaceous gland tumour" EXACT OMO:0003005 [] synonym: "Sebaceous neoplasm" EXACT [] synonym: "sebaceous neoplasm" EXACT [DOID:5759, NCIT:C3363] synonym: "sebaceous tumor" EXACT [NCIT:C3363] synonym: "sebaceous tumour" EXACT OMO:0003005 [] synonym: "tumor of sebaceous gland" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of sebaceous gland" EXACT OMO:0003005 [] xref: DOID:5759 {source="MONDO:equivalentTo", source="EFO:1001172"} xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D012626 {source="MONDO:equivalentTo", source="DOID:5759", source="EFO:1001172"} xref: MeSH:D012626 xref: MONDO:0006963 xref: NCIT:C3363 {source="MONDO:equivalentTo", source="DOID:5759", source="MONDO:exact-label-match", source="EFO:1001172"} xref: NCIt:C3363 xref: SCTID:126491004 {source="MONDO:equivalentTo", source="DOID:5759"} xref: SNOMEDCT:92337009 xref: UMLS:C0036503 {source="NCIT:C3363", source="MONDO:equivalentTo", source="DOID:5759"} xref: UMLS:C3805742 {source="MONDO:equivalentTo"} is_a: EFO:1000763 {source="MESH:D012626", source="MONDO:Redundant"} ! sebaceous gland disease is_a: MONDO:0002297 {source="MONDO:Redundant", source="NCIT:C3363"} ! epidermal appendage tumor property_value: exactMatch DOID:5759 property_value: exactMatch http://identifiers.org/mesh/D012626 property_value: exactMatch http://identifiers.org/snomedct/126491004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036503 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3805742 property_value: exactMatch NCIT:C3363 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001173 name: secondary hyperparathyroidism def: "Abnormally elevated PARATHYROID HORMONE secretion as a response to HYPOCALCEMIA. It is caused by chronic KIDNEY FAILURE or other abnormalities in the controls of bone and mineral metabolism, leading to various BONE DISEASES, such as RENAL OSTEODYSTROPHY." [] def: "Overproduction of parathyroid hormone in response to influence external to the parathyroid glands." [NCIT:P378] synonym: "Hyperparathyroidism, Secondary" EXACT [] synonym: "secondary hyperparathyroidism" EXACT [MONDO:ambiguous] synonym: "secondary hyperparathyroidism" EXACT [] {comment="preferred label from MONDO"} synonym: "secondary hyperparathyroidism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "secondary hyperparathyroidism (disorder)" EXACT [] synonym: "secondary hyperparathyroidism NOS" EXACT [] synonym: "secondary hyperparathyroidism NOS" NARROW [DOID:12466] xref: DOID:12466 {source="EFO:1001173", source="MONDO:equivalentTo"} xref: HP:0000867 {source="MONDO:otherHierarchy"} xref: MedDRA:10020708 {source="EFO:1001173"} xref: MESH:D006962 {source="EFO:1001173", source="MONDO:equivalentTo", source="DOID:12466"} xref: MeSH:D006962 xref: MONDO:0006964 xref: NCIT:C113335 {source="EFO:1001173", source="MONDO:equivalentTo", source="DOID:12466"} xref: NCIt:C113335 xref: SCTID:91478007 {source="EFO:1001173", source="MONDO:equivalentTo", source="DOID:12466"} xref: SNOMEDCT:91478007 xref: UMLS:C0020503 {source="MONDO:equivalentTo", source="NCIT:C113335", source="DOID:12466"} is_a: EFO:0008506 {source="DOID:12466", source="MESH:D006962", source="NCIT:C113335"} ! hyperparathyroidism union_of: MONDO:0001530 ! secondary hyperparathyroidism of renal origin union_of: MONDO:0001750 ! non-renal secondary hyperparathyroidism property_value: closeMatch http://identifiers.org/meddra/10020708 property_value: exactMatch DOID:12466 property_value: exactMatch http://identifiers.org/mesh/D006962 property_value: exactMatch http://identifiers.org/snomedct/91478007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020503 property_value: exactMatch NCIT:C113335 property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000589 "secondary hyperparathyroidism (disease)" xsd:string [Term] id: EFO:1001174 name: secondary hypertrophic osteoarthropathy def: "Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed)" [MESH:D010005] synonym: "Bamberger-Marie disease" EXACT [DOID:10393] synonym: "HPOA - hypertrophic pulmonary osteoarthropathy" EXACT [DOID:10393] synonym: "hypertrophic pulmonary osteoarthropathy" EXACT [DOID:10393, ICD9CM:731.2] synonym: "hypertrophic pulmonary osteoarthropathy (disorder)" EXACT [] synonym: "hypertrophic pulmonary osteoarthropathy (disorder) [Ambiguous]" EXACT [] synonym: "hypertrophic pulmonary osteoarthropathy (disorder) [ambiguous]" EXACT [DOID:10393] synonym: "Marie Bamberger disease" EXACT [DOID:10393] synonym: "Osteoarthropathy, Secondary Hypertrophic" EXACT [] synonym: "secondary hypertrophic osteoarthropathy" EXACT [] {comment="preferred label from MONDO"} xref: DOID:10393 {source="EFO:1001174", source="MONDO:equivalentTo"} xref: ICD9:731.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10393"} xref: MESH:D010005 {source="EFO:1001174", source="MONDO:equivalentTo", source="DOID:10393"} xref: MeSH:D010005 xref: MONDO:0006965 xref: SCTID:203357004 {source="MONDO:equivalentTo", source="DOID:10393"} xref: UMLS:C0029412 {source="MONDO:equivalentTo", source="DOID:10393"} is_a: EFO:0004260 ! bone disease is_a: EFO:1000999 {source="DOID:10393", source="MESH:D010005"} ! joint disease property_value: exactMatch DOID:10393 property_value: exactMatch http://identifiers.org/mesh/D010005 property_value: exactMatch http://identifiers.org/snomedct/203357004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029412 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001175 name: secondary Parkinson disease def: "A condition with a clinical picture similar to that of Parkinson disease, but which is caused by external factors, including medication." [NCIT:P378] def: "Conditions which feature clinical manifestations resembling primary Parkinson disease that are caused by a known or suspected condition. Examples include parkinsonism caused by vascular injury, drugs, trauma, toxin exposure, neoplasms, infections and degenerative or hereditary conditions. Clinical features may include bradykinesia, rigidity, parkinsonian gait, and masked facies. In general, tremor is less prominent in secondary parkinsonism than in the primary form. (From Joynt, Clinical Neurology, 1998, Ch38, pp39-42)" [] synonym: "disorder presenting primarily with parkinsonism" EXACT [DOID:13548] synonym: "Parkinson Disease, Secondary" EXACT [] synonym: "secondary Parkinson disease" EXACT [] {comment="preferred label from MONDO"} synonym: "secondary Parkinsonism" EXACT [DOID:13548, ICD9CM:332.1, NCIT:C34899] synonym: "secondary parkinsonism (disorder)" EXACT [] synonym: "secondary parkinsonism (disorder) [Ambiguous]" EXACT [] synonym: "secondary parkinsonism (disorder) [ambiguous]" EXACT [DOID:13548] synonym: "secondary parkinsonism, unspecified" EXACT [DOID:13548] synonym: "secondary parkinsonism, unspecified (disorder)" EXACT [] synonym: "symptomatic parkinsonism" EXACT [DOID:13548] synonym: "Symptomatic parkinsonism (disorder)" EXACT [] xref: DOID:13548 {source="EFO:1001175", source="MONDO:equivalentTo"} xref: ICD10:G21 xref: ICD9:332.1 {source="DOID:13548"} xref: MESH:D010302 {source="DOID:13548", source="EFO:1001175", source="MONDO:equivalentTo"} xref: MeSH:D010302 xref: MONDO:0006966 xref: NCIT:C34899 {source="DOID:13548", source="MONDO:equivalentTo"} xref: SCTID:265377002 {source="DOID:13548", source="MONDO:equivalentTo"} xref: UMLS:C0030569 {source="DOID:13548", source="MONDO:equivalentTo", source="NCIT:C34899"} is_a: EFO:0005772 {source="DOID:13548", source="EFO:1001175", source="EFO:1001175/inferred"} ! neurodegenerative disease is_a: MONDO:0005180 ! Parkinson disease is_a: MONDO:0024237 ! inherited neurodegenerative disorder relationship: disease_shares_features_of MONDO:0005180 ! Parkinson disease property_value: exactMatch DOID:13548 property_value: exactMatch http://identifiers.org/mesh/D010302 property_value: exactMatch http://identifiers.org/snomedct/265377002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030569 property_value: exactMatch NCIT:C34899 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001176 name: sensorineural hearing loss def: "Hearing loss due to disease of the AUDITORY PATHWAYS (in the CENTRAL NERVOUS SYSTEM) which originate in the COCHLEAR NUCLEI of the PONS and then ascend bilaterally to the MIDBRAIN, the THALAMUS, and then the AUDITORY CORTEX in the TEMPORAL LOBE. Bilateral lesions of the auditory pathways are usually required to cause central hearing loss. Cortical deafness refers to loss of hearing due to bilateral auditory cortex lesions. Unilateral BRAIN STEM lesions involving the cochlear nuclei may result in unilateral hearing loss." [] def: "Hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII)." [Wikipedia:Sensorineural_hearing_loss] synonym: "central hearing loss" EXACT [] synonym: "Hearing Loss, Central" EXACT [] synonym: "High frequency deafness" EXACT [] synonym: "High Frequency Hearing Loss" EXACT [] synonym: "high-frequency hearing loss" EXACT [] synonym: "neurosensory deafness" RELATED [] synonym: "Perceptive deafness [diagnos]" EXACT [] synonym: "Perceptive hearing loss" EXACT [] synonym: "Perceptive hearing loss or deafness" EXACT [] synonym: "Sensorineural Deafness" EXACT [] synonym: "sensorineural deafness" EXACT [NCIT:C26739] synonym: "sensorineural hearing loss" EXACT [NCIT:C26739] synonym: "sensorineural hearing loss disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "Sensory hearing loss" EXACT [] synonym: "SNHL" EXACT ABBREVIATION [NCIT:C26739, Wikipedia:Sensorineural_hearing_loss] xref: DOID:10003 {source="MONDO:equivalentTo"} xref: HP:0000407 xref: ICD10:H90 xref: ICD9:389.1 xref: MedDRA:10040015 xref: MedDRA:10040016 xref: MedDRA:10040018 xref: MeSH:D006313 xref: MONDO:0020678 xref: NCIT:C26739 {source="MONDO:equivalentTo"} xref: NCIt:C26739 xref: SCTID:60700002 {source="MONDO:equivalentTo"} xref: SNOMEDCT:60700002 is_a: EFO:0004238 {source="NCIT:C26739"} ! hearing loss property_value: exactMatch DOID:10003 property_value: exactMatch http://identifiers.org/snomedct/60700002 property_value: exactMatch NCIT:C26739 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001177 name: septic abortion def: "Any type of abortion, induced or spontaneous, that is associated with infection of the UTERUS and its appendages. It is characterized by FEVER, uterine tenderness, and foul discharge." [] synonym: "abortion with sepsis" EXACT [] synonym: "Abortion, Septic" EXACT [] synonym: "Septic abortion (disorder)" EXACT [] xref: DOID:2910 xref: MedDRA:10040056 xref: MeSH:D000031 is_a: EFO:1001491 ! abortion property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001178 name: shoulder impingement syndrome def: "Compression of the rotator cuff tendons and subacromial bursa between the humeral head and structures that make up the coracoacromial arch and the humeral tuberosities. This condition is associated with subacromial bursitis and rotator cuff (largely supraspinatus) and bicipital tendon inflammation, with or without degenerative changes in the tendon. Pain that is most severe when the arm is abducted in an arc between 40 and 120 degrees, sometimes associated with tears in the rotator cuff, is the chief symptom. (From Jablonski's Dictionary of Syndromes and Eponymic Diseases, 2d ed)" [MESH:D019534] synonym: "Impingement syndrome of shoulder region" EXACT [DOID:14276] synonym: "Impingement syndrome of shoulder region (disorder)" EXACT [] synonym: "Shoulder Impingement Syndrome" EXACT [] synonym: "shoulder impingement syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Shoulder impingement syndrome (disorder) [Ambiguous]" EXACT [] synonym: "shoulder impingement syndrome (disorder) [ambiguous]" EXACT [DOID:14276] synonym: "subacromial impingement" EXACT [DOID:14276] synonym: "Subacromial impingement (disorder)" EXACT [] xref: DOID:14276 {source="EFO:1001178", source="MONDO:equivalentTo"} xref: ICD10:M75.4 xref: ICD10:S46 xref: ICD10CM:M75.4 {source="EFO:1001178", source="MONDO:equivalentTo", source="DOID:14276"} xref: ICD9:726.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10049039 {source="EFO:1001178"} xref: MESH:D019534 {source="EFO:1001178", source="MONDO:equivalentTo", source="DOID:14276"} xref: MeSH:D019534 xref: MONDO:0006968 xref: SCTID:202849001 {source="MONDO:equivalentTo", source="DOID:14276"} xref: SNOMEDCT:239960007 xref: UMLS:C0376685 {source="MONDO:equivalentTo", source="DOID:14276"} is_a: EFO:1000999 {source="DOID:14276", source="EFO:1001178", source="MESH:D019534"} ! joint disease property_value: closeMatch http://identifiers.org/meddra/10049039 property_value: exactMatch DOID:14276 property_value: exactMatch http://identifiers.org/mesh/D019534 property_value: exactMatch http://identifiers.org/snomedct/202849001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0376685 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/M75.4 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001179 name: sialadenitis def: "INFLAMMATION of salivary tissue (SALIVARY GLANDS), usually due to INFECTION or injuries." [] def: "Sialadenitis is an infection of the salivary glands. It is usually caused by a virus or bacteria. The parotid (in front ofthe ear) and submandibular (under the chin) glands are most commonly affected. Sialadenitis may be associated with pain, tenderness, redness, and gradual, localized swelling of the affected area. Sialadenitis most commonly affects the elderly and chronically ill especially those with dry mouth or who are dehydrated, but can also affected people of any age including newborn babies. Diagnosis is usually made by clinical exam but a CT scan, MRI scan or ultrasound may be done if the doctor suspects an abscess or to look for stones. Treatment may include an antibiotic (if bacterial), warm compresses, increasing fluid intake and good oral hygiene. Most salivary gland infections go away on their own or are cured with treatment. Complications are not common." [https://rarediseases.info.nih.gov/diseases/7638/sialadenitis] comment: Editor note: TODO check NCIT mapping subset: gard_rare {source="GARD:0007638"} synonym: "Adenitis, Salivary Gland" EXACT [] synonym: "adenitis, salivary gland" RELATED [GARD:0007638] synonym: "Chronic Sialadenitis" EXACT [] synonym: "Irradiation-Induced Sialadenitis" EXACT [] synonym: "lymphadenitis (disease) of saliva-secreting gland" EXACT [] synonym: "saliva-secreting gland lymphadenitis (disease)" EXACT [MONDO:patterns/location] synonym: "Salivary Gland Inflammation" EXACT [] synonym: "salivary gland inflammation" RELATED [GARD:0007638] synonym: "Sialadenitis" EXACT [] synonym: "sialadenitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Sialitis" EXACT [] synonym: "sialitis" EXACT [NCIT:C115165] synonym: "Sialoadenitis" EXACT [] synonym: "sialoadenitis" EXACT [DOID:10303] xref: DOID:10303 {source="MONDO:equivalentTo", source="EFO:1001179"} xref: ICD9:527.2 {source="DOID:10303", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10040627 {source="EFO:1001179"} xref: MESH:D012793 {source="DOID:10303", source="MONDO:equivalentTo", source="EFO:1001179"} xref: MeSH:D012793 xref: MONDO:0006969 xref: NCIT:C115165 {source="DOID:10303", source="MONDO:equivalentTo"} xref: NCIT:C26882 {source="DOID:10303", source="MONDO:equivalentTo", source="EFO:1001179", source="MONDO:altHierarchy"} xref: NCIt:C26882 xref: SCTID:42982001 {source="DOID:10303", source="MONDO:equivalentTo", source="EFO:1001179"} xref: SNOMEDCT:42982001 xref: UMLS:C0037023 {source="DOID:10303", source="MONDO:equivalentTo"} is_a: EFO:0008581 {source="DOID:10303", source="EFO:1001179", source="MESH:D012793", source="MONDO:Redundant", source="NCIT:C115165/inferred"} ! salivary gland disease is_a: MONDO:0002052 {source="DOID:10303", source="MONDO:Entailed", source="MONDO:Redundant"} ! lymphadenitis relationship: RO:0000056 GO:0006954 ! participates_in inflammatory response property_value: closeMatch http://identifiers.org/meddra/10040627 property_value: exactMatch DOID:10303 property_value: exactMatch http://identifiers.org/mesh/D012793 property_value: exactMatch http://identifiers.org/snomedct/42982001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037023 property_value: exactMatch NCIT:C115165 property_value: exactMatch NCIT:C26882 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7638/sialadenitis xsd:anyURI {source="GARD:0007638"} [Term] id: EFO:1001180 name: sialolithiasis def: "A concretion in the salivary gland." [NCIT:P378] def: "Calculi occurring in a salivary gland. Most salivary gland calculi occur in the submandibular gland, but can also occur in the parotid gland and in the sublingual and minor salivary glands." [] synonym: "Salivary Gland Calculi" EXACT [] synonym: "Salivary gland Stone" EXACT [] synonym: "salivary gland Stone" EXACT [DOID:12905, NCIT:C34994] synonym: "Sialolith" EXACT [] synonym: "sialolith" EXACT [DOID:12905] synonym: "sialolithiasis" EXACT [] {comment="preferred label from MONDO"} synonym: "Sialolithiasis (disorder)" EXACT [] synonym: "Sialolithiasis NOS (disorder)" EXACT [] synonym: "Stone of salivary gland or duct" EXACT [DOID:12905] xref: DOID:12905 {source="MONDO:equivalentTo", source="EFO:1001180"} xref: ICD10:K11.5 xref: ICD10CM:K11.5 {source="MONDO:equivalentTo", source="DOID:12905", source="EFO:1001180"} xref: ICD9:527.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12905"} xref: MedDRA:10040631 {source="EFO:1001180"} xref: MESH:D015494 {source="MONDO:equivalentTo", source="DOID:12905", source="EFO:1001180"} xref: MeSH:D015494 xref: MONDO:0006970 xref: NCIt:C34994 xref: SCTID:28826002 {source="MONDO:equivalentTo", source="DOID:12905", source="EFO:1001180"} xref: SNOMEDCT:28826002 xref: UMLS:C0036091 {source="MONDO:equivalentTo", source="DOID:12905"} is_a: EFO:0008581 {source="DOID:12905", source="EFO:1001180", source="MESH:D015494/inferred"} ! salivary gland disease property_value: closeMatch http://identifiers.org/meddra/10040631 property_value: exactMatch DOID:12905 property_value: exactMatch http://identifiers.org/mesh/D015494 property_value: exactMatch http://identifiers.org/snomedct/28826002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036091 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K11.5 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001181 name: sigmoid neoplasm def: "Tumors or cancer of the sigmoid colon." [MESH:D012811] comment: Editor note: NCIT uses rectosigmoid as a region synonym: "neoplasm of sigmoid colon" EXACT [MONDO:patterns/neoplasm] synonym: "sigmoid colon neoplasm" EXACT [] synonym: "sigmoid colon neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "sigmoid colon tumor" EXACT [MONDO:patterns/neoplasm] synonym: "sigmoid colon tumour" EXACT OMO:0003005 [] synonym: "sigmoid neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "sigmoid neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "tumor of sigmoid colon" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of sigmoid colon" EXACT OMO:0003005 [] xref: DOID:1896 {source="MONDO:equivalentTo", source="EFO:1001181"} xref: EFO:1001181 {source="MONDO:equivalentTo"} xref: ICD9:153.3 {source="MONDO:superClassOf", source="EFO:1001181"} xref: ICD9:153.3 {source="EFO:1001181"} xref: MedDRA:10026456 {source="EFO:1001181"} xref: MESH:D012811 {source="DOID:1896", source="MONDO:equivalentTo", source="EFO:1001181"} xref: MONDO:0006971 xref: SCTID:126845000 {source="DOID:1896", source="MONDO:equivalentTo", source="EFO:1001181"} xref: UMLS:C0037073 {source="DOID:1896", source="MONDO:equivalentTo"} is_a: EFO:0004288 {source="EFO:1001181", source="MESH:D012811", source="MONDO:Entailed", source="MONDO:Redundant"} ! colonic neoplasm property_value: closeMatch http://identifiers.org/meddra/10026456 property_value: closeMatch http://identifiers.org/meddra/10026456 property_value: closeMatch http://identifiers.org/snomedct/254581007 property_value: exactMatch DOID:1896 property_value: exactMatch DOID:1896 property_value: exactMatch http://identifiers.org/mesh/D012811 property_value: exactMatch http://identifiers.org/mesh/D012811 property_value: exactMatch http://identifiers.org/snomedct/126845000 property_value: exactMatch http://identifiers.org/snomedct/126845000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037073 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037073 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/neoplasm.yaml [Term] id: EFO:1001182 name: silo filler's disease def: "A form of alveolitis or PNEUMONITIS caused by hypersensitivity to high level of inhaled nitrogen oxides, decomposition products of silage." [] def: "A form of alveolitis or pneumonitis caused by hypersensitivity to high level of inhaled nitrogen oxides, decomposition products of silage." [MESH:D012832] synonym: "silo filler disease" EXACT [DOID:4374] synonym: "silo filler disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Silo Filler's Disease" EXACT [] synonym: "silo filler's disease" RELATED [DOID:4374] synonym: "Silo-fillers' disease" EXACT [] synonym: "silo-fillers' disease" EXACT [DOID:4374] synonym: "Silo-fillers' disease (disorder)" EXACT [] xref: DOID:4374 {source="MONDO:equivalentTo", source="EFO:1001182"} xref: MESH:D012832 {source="MONDO:equivalentTo", source="DOID:4374", source="EFO:1001182"} xref: MeSH:D012832 xref: MONDO:0006972 xref: SCTID:61233003 {source="MONDO:equivalentTo", source="DOID:4374"} xref: UMLS:C0037120 {source="MONDO:equivalentTo", source="DOID:4374"} is_a: EFO:0003818 {source="DOID:4374", source="EFO:1001182", source="MESH:D012832/inferred"} ! lung disease property_value: exactMatch DOID:4374 property_value: exactMatch http://identifiers.org/mesh/D012832 property_value: exactMatch http://identifiers.org/snomedct/61233003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037120 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001183 name: skin appendage carcinoma def: "A carcinoma arising from the sebaceous glands, sweat glands, or the hair follicles. Representative examples include sebaceous carcinoma, apocrine carcinoma, eccrine carcinoma, and pilomatrical carcinoma." [NCIT:P378] synonym: "adnexal carcinoma" EXACT [NCIT:C3775] synonym: "carcinoma of adnexa" EXACT [NCIT:C3775] synonym: "carcinoma of cutaneous appendage" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of skin appendage" EXACT [NCIT:C3775] synonym: "carcinoma, adnexal, malignant" EXACT [NCIT:C3775] synonym: "cutaneous appendage carcinoma" EXACT [MONDO:patterns/location] synonym: "skin adnexal carcinoma" RELATED [ONCOTREE:SKAC] synonym: "skin appendage carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "skin appendage carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "skin appendage carcinoma" EXACT [NCIT:C3775] xref: EFO:1001183 {source="MONDO:equivalentTo"} xref: ICDO:8390/3 {source="NCIT:C3775"} xref: MedDRA:10040798 {source="EFO:1001183"} xref: MESH:D018280 {source="MONDO:equivalentTo", source="EFO:1001183"} xref: MONDO:0006973 xref: NCIT:C3775 {source="MONDO:equivalentTo", source="EFO:1001183"} xref: ONCOTREE:SKAC {source="MONDO:equivalentTo"} xref: UMLS:C0206697 {source="MONDO:equivalentTo", source="NCIT:C3775"} is_a: EFO:0009259 {source="MONDO:Redundant", source="NCIT:C3775"} ! skin carcinoma is_a: MONDO:0002297 {source="MONDO:Redundant", source="NCIT:C3775/inferred"} ! epidermal appendage tumor property_value: closeMatch DOID:4684 property_value: closeMatch http://identifiers.org/meddra/10040798 property_value: closeMatch http://identifiers.org/meddra/10040798 property_value: closeMatch http://identifiers.org/snomedct/64000002 property_value: exactMatch http://identifiers.org/mesh/D018280 property_value: exactMatch http://identifiers.org/mesh/D018280 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206697 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206697 property_value: exactMatch NCIT:C3775 property_value: exactMatch NCIT:C3775 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:1001184 name: small cell sarcoma def: "A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm." [NCIT:C3746] synonym: "small cell sarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "small cell sarcoma" EXACT [NCIT:C3746] synonym: "small cell sarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "small cell sarcomas" EXACT [NCIT:C3746] xref: DOID:3098 {source="EFO:1001184", source="MONDO:equivalentTo"} xref: EFO:1001184 {source="MONDO:equivalentTo"} xref: ICDO:8803/3 {source="NCIT:C3746"} xref: MESH:D018228 {source="EFO:1001184", source="MONDO:equivalentTo", source="DOID:3098"} xref: MONDO:0006974 xref: NCIT:C3746 {source="EFO:1001184", source="MONDO:equivalentTo", source="exact-label-match", source="DOID:3098"} xref: NCIT:C3746 {source="EFO:1001184", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3098"} xref: UMLS:C0206652 {source="MONDO:equivalentTo", source="DOID:3098", source="NCIT:C3746"} is_a: EFO:0000691 {source="EFO:1001184", source="MESH:D018228", source="NCIT:C3746"} ! sarcoma property_value: closeMatch http://identifiers.org/snomedct/73506006 property_value: exactMatch DOID:3098 property_value: exactMatch DOID:3098 property_value: exactMatch http://identifiers.org/mesh/D018228 property_value: exactMatch http://identifiers.org/mesh/D018228 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206652 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206652 property_value: exactMatch NCIT:C3746 property_value: exactMatch NCIT:C3746 property_value: excluded_subClassOf MONDO:0002176 {source="DOID:3098"} [Term] id: EFO:1001185 name: smooth muscle tumor def: "A benign or malignant myomatous neoplasm arising from smooth muscle." [NCIT:C3751] synonym: "neoplasm of smooth muscle" EXACT [NCIT:C3751] synonym: "neoplasm of the smooth muscle" EXACT [NCIT:C3751] synonym: "smooth muscle neoplasm" EXACT [NCIT:C3751] synonym: "smooth muscle tumor" EXACT [NCIT:C3751] synonym: "smooth muscle tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "smooth muscle tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "tumor of smooth muscle" EXACT [NCIT:C3751] synonym: "tumor of the smooth muscle" EXACT [NCIT:C3751] synonym: "tumour of smooth muscle" EXACT OMO:0003005 [] synonym: "tumour of the smooth muscle" EXACT OMO:0003005 [] xref: DOID:4310 {source="EFO:1001185", source="MONDO:equivalentTo"} xref: EFO:1001185 {source="MONDO:equivalentTo"} xref: MESH:D018235 {source="DOID:4310", source="EFO:1001185", source="MONDO:equivalentTo"} xref: MONDO:0006975 xref: NCIT:C3751 {source="DOID:4310", source="DesignPattern", source="EFO:1001185", source="MONDO:equivalentTo"} xref: NCIT:C3751 {source="DOID:4310", source="EFO:1001185", source="MONDO:equivalentTo"} xref: UMLS:C0206658 {source="DOID:4310", source="MONDO:equivalentTo", source="NCIT:C3751"} is_a: EFO:0002970 ! muscular disease is_a: MONDO:0021545 {source="MESH:D018235", source="MONDO:Redundant", source="NCIT:C3751"} ! myomatous neoplasm property_value: closeMatch http://identifiers.org/snomedct/189799007 property_value: closeMatch http://identifiers.org/snomedct/75109009 property_value: exactMatch DOID:4310 property_value: exactMatch DOID:4310 property_value: exactMatch http://identifiers.org/mesh/D018235 property_value: exactMatch http://identifiers.org/mesh/D018235 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206658 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206658 property_value: exactMatch NCIT:C3751 property_value: exactMatch NCIT:C3751 [Term] id: EFO:1001186 name: Sneddon syndrome def: "A systemic non-inflammatory arteriopathy primarily of middle-aged females characterized by the association of livedo reticularis, multiple thrombotic CEREBRAL INFARCTION; CORONARY DISEASE, and HYPERTENSION. Elevation of antiphospholipid antibody titers (see also ANTIPHOSPHOLIPID SYNDROME), cardiac valvulopathy, ISCHEMIC ATTACK, TRANSIENT; SEIZURES; DEMENTIA; and chronic ischemia of the extremities may also occur. Pathologic examination of affected arteries reveals non-inflammatory adventitial fibrosis, thrombosis, and changes in the media. (From Jablonski, Dictionary of Syndromes & Eponymic Diseases, 2d ed; Adams et al., Principles of Neurology, 6th ed, p861; Arch Neurol 1997 Jan;54(1):53-60)" [] def: "Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa." [Orphanet:820] subset: gard_rare {source="GARD:0007664"} subset: ordo_disease {source="Orphanet:820"} synonym: "cerebro-vascular lesions and livedo reticularis" RELATED [GARD:0007664] synonym: "Ehrmann-Sneddon syndrome" EXACT [Orphanet:820] synonym: "idiopathic livedo reticularis with systemic involvement" EXACT [DOID:13096] synonym: "Idiopathic livedo reticularis with systemic involvement (disorder)" EXACT [] synonym: "livedo racemosa and cerebrovascular accidents" RELATED [GARD:0007664] synonym: "livedo racemosa-cerebrovascular accident syndrome" EXACT [Orphanet:820] synonym: "livedo reticularis and cerebrovascular accidents" RELATED [OMIM:182410] synonym: "livedo reticularis-cerebrovascular accident syndrome" EXACT [Orphanet:820] synonym: "Sneddon Syndrome" EXACT [] synonym: "Sneddon syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Sneddon syndrome" EXACT [OMIM:182410] synonym: "Sneddon's syndrome" RELATED [GARD:0007664] xref: DOID:13096 {source="EFO:1001186", source="MONDO:equivalentTo"} xref: MedDRA:10053841 {source="Orphanet:820", source="Orphanet:820/e"} xref: MESH:D018860 {source="EFO:1001186", source="Orphanet:820", source="MONDO:equivalentTo", source="DOID:13096", source="Orphanet:820/e"} xref: MeSH:D018860 xref: MONDO:0008436 xref: OMIM:182410 {source="Orphanet:820", source="MONDO:equivalentTo", source="DOID:13096", source="Orphanet:820/e"} xref: Orphanet:820 {source="MONDO:equivalentTo", source="OMIM:182410"} xref: SCTID:238776001 {source="MONDO:equivalentTo", source="DOID:13096"} xref: UMLS:C0282492 {source="Orphanet:820", source="MONDO:equivalentTo", source="DOID:13096", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:820/e", source="OMIM:182410"} is_a: MONDO:0000473 {source="DOID:13096"} ! arterial disorder is_a: MONDO:0019293 {source="MESH:D018860"} ! skin vascular disease is_a: MONDO:0100118 ! hereditary skin disorder is_a: MONDO:0100317 {source="https://clinicalgenome.org/affiliation/40080/"} ! deficiency of adenosine deaminase 2 relationship: has_characteristic MONDO:0021136 {source="MONDO:0016517", source="MONDO:0019110"} ! rare property_value: closeMatch http://identifiers.org/meddra/10053841 property_value: exactMatch DOID:13096 property_value: exactMatch http://identifiers.org/mesh/D018860 property_value: exactMatch http://identifiers.org/snomedct/238776001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0282492 property_value: exactMatch https://omim.org/entry/182410 property_value: exactMatch Orphanet:820 property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6166 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7664/sneddon-syndrome xsd:anyURI {source="GARD:0007664"} [Term] id: EFO:1001187 name: somatostatinoma def: "A rare, usually malignant neuroendocrine tumor arizing from delta cells. This neoplasm produces large amounts of somatostatin, which may result in a syndrome characterized by diarrhea, steatorrhea, weight loss, and gastric hyposecretion. Sixty percent are found in the pancreas and 40% in the duodenum or jejunum. The peak incidence occurs between 40 and 60 years of age; women are affected more than men by 2:1." [NCIT:P378] subset: gard_rare {source="GARD:0004900"} subset: ordo_disease {source="Orphanet:97283"} synonym: "ampullary somatostatinoma" RELATED [GARD:0004900] synonym: "carcinoid somatostatinoma" RELATED [GARD:0004900] synonym: "Delta cell tumor" EXACT [NCIT:C3379] synonym: "Delta cell tumour" EXACT OMO:0003005 [] synonym: "malignant islet cell tumor" RELATED [GARD:0004900] synonym: "malignant islet cell tumour" RELATED OMO:0003005 [] synonym: "Somatomedin-secreting carcinoid" RELATED [GARD:0004900] synonym: "somatostatin cell neoplasm" EXACT [DOID:4430, NCIT:C3379] synonym: "somatostatin cell tumor" EXACT [DOID:4430, NCIT:C3379] synonym: "somatostatin cell tumor" EXACT [NCIT:C3379] synonym: "somatostatin cell tumour" EXACT [DOID:4430] synonym: "somatostatin cell tumour" EXACT OMO:0003005 [] synonym: "somatostatin producing tumor" EXACT [NCIT:C3379] synonym: "somatostatin producing tumour" EXACT OMO:0003005 [] synonym: "somatostatin-producing NET" EXACT [NCIT:C3379] synonym: "somatostatin-producing neuroendocrine tumor" EXACT [NCIT:C3379] synonym: "somatostatin-producing neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "somatostatin-producing tumor" EXACT [NCIT:C3379] synonym: "somatostatin-producing tumour" EXACT OMO:0003005 [] synonym: "somatostatin-secreting pancreatic neoplasm" RELATED [GARD:0004900] synonym: "somatostatinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "somatostatinoma" EXACT [NCIT:C3379] synonym: "somatostatinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "tumor of Delta cells" EXACT [NCIT:C3379] synonym: "tumor of the Delta cells" EXACT [NCIT:C3379] synonym: "tumour of Delta cells" EXACT OMO:0003005 [] synonym: "tumour of the Delta cells" EXACT OMO:0003005 [] xref: DOID:4430 {source="EFO:1001187", source="MONDO:equivalentTo"} xref: EFO:1001187 {source="MONDO:equivalentTo"} xref: GARD:0004900 {source="MONDO:equivalentTo"} xref: ICD10:E16.8 {source="ORDO:97283/ntbt", source="Orphanet:97283"} xref: ICD9:235.5 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:235.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8156/1 {source="NCIT:C3379"} xref: MedDRA:10041329 {source="EFO:1001187", source="ORDO:97283/e", source="Orphanet:97283"} xref: MedDRA:10041329 {source="Orphanet:97283/e", source="EFO:1001187", source="Orphanet:97283"} xref: MESH:D013005 {source="DOID:4430", source="EFO:1001187", source="MONDO:equivalentTo", source="ORDO:97283/e", source="Orphanet:97283"} xref: MESH:D013005 {source="Orphanet:97283/e", source="DOID:4430", source="EFO:1001187", source="MONDO:equivalentTo", source="Orphanet:97283"} xref: MONDO:0006976 xref: NCIT:C3379 {source="DOID:4430", source="MONDO:equivalentTo"} xref: Orphanet:97283 {source="MONDO:equivalentTo"} xref: SCTID:253006001 {source="DOID:4430", source="EFO:1001187", source="MONDO:equivalentTo"} xref: UMLS:C0037661 {source="Orphanet:97283/e", source="DOID:4430", source="MONDO:equivalentTo", source="Orphanet:97283", source="NCIT:C3379"} xref: UMLS:C0037661 {source="DOID:4430", source="MONDO:equivalentTo", source="ORDO:97283/e", source="Orphanet:97283", source="NCIT:C3379"} is_a: EFO:0004243 {source="EFO:1001187", source="MONDO:Redundant", source="MONDO:indirect"} ! carcinoid tumor is_a: EFO:1000045 {source="MONDO:Redundant", source="Orphanet:97283", source="Orphanet:97283/inferred"} ! pancreatic neuroendocrine tumor property_value: closeMatch http://identifiers.org/meddra/10041329 property_value: closeMatch http://identifiers.org/snomedct/128642005 property_value: exactMatch DOID:4430 property_value: exactMatch DOID:4430 property_value: exactMatch http://identifiers.org/meddra/10041329 property_value: exactMatch http://identifiers.org/mesh/D013005 property_value: exactMatch http://identifiers.org/mesh/D013005 property_value: exactMatch http://identifiers.org/snomedct/253006001 property_value: exactMatch http://identifiers.org/snomedct/253006001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037661 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037661 property_value: exactMatch NCIT:C3379 property_value: exactMatch NCIT:C3379 property_value: exactMatch Orphanet:97283 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4900/somatostatinoma xsd:anyURI {source="GARD:0004900"} [Term] id: EFO:1001188 name: space motion sickness def: "Disorder characterized by nausea, vomiting, and dizziness, possibly in response to vestibular disorientation or fluid shifts associated with space flight. (From Webster's New World Dictionary)" [] synonym: "Space Motion Sickness" EXACT [] xref: DOID:4796 xref: MeSH:D018489 is_a: EFO:0006928 ! motion sickness property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001189 name: spermatocele def: "A benign testicular cyst that is located in the epididymis, and which contains serous fluid, lymphocytes, spermatozoa, and debris." [NCIT:P378] def: "A cystic dilation of the EPIDIDYMIS, usually in the head portion (caput epididymis). The cyst fluid contains dead SPERMATOZOA and can be easily differentiated from TESTICULAR HYDROCELE and other testicular lesions." [] synonym: "Spermatocele" EXACT [] synonym: "spermatocele" EXACT [] {comment="preferred label from MONDO"} synonym: "Spermatocele (disorder)" EXACT [] xref: DOID:11997 {source="EFO:1001189", source="MONDO:equivalentTo"} xref: ICD10:N43 xref: ICD10:N43.4 xref: ICD10CM:N43.4 {source="DOID:11997", source="EFO:1001189", source="MONDO:equivalentTo"} xref: ICD9:608.1 {source="DOID:11997", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10041490 {source="EFO:1001189"} xref: MESH:D013088 {source="DOID:11997", source="EFO:1001189", source="MONDO:equivalentTo"} xref: MeSH:D013088 xref: MONDO:0006977 xref: NCIt:C120909 xref: SCTID:49263001 {source="DOID:11997", source="EFO:1001189", source="MONDO:equivalentTo"} xref: SNOMEDCT:49263001 xref: UMLS:C0037859 {source="DOID:11997", source="MONDO:equivalentTo"} is_a: EFO:0009555 {source="DOID:11997", source="ICD10CM:N43.4/inferred", source="MESH:D013088"} ! male reproductive system disease property_value: closeMatch http://identifiers.org/meddra/10041490 property_value: exactMatch DOID:11997 property_value: exactMatch http://identifiers.org/mesh/D013088 property_value: exactMatch http://identifiers.org/snomedct/49263001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037859 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/N43.4 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001190 name: splenic infarction def: "Insufficiency of arterial or venous blood supply to the spleen due to emboli, thrombi, vascular torsion, or pressure that produces a macroscopic area of necrosis. (From Stedman, 25th ed)" [MESH:D013159] synonym: "infarct of the spleen" RELATED [GARD:0009973] synonym: "Splenic infarct" EXACT [] synonym: "splenic infarct" EXACT [DOID:2533] synonym: "Splenic Infarction" EXACT [] synonym: "Splenic infarction" EXACT [] synonym: "splenic infarction" EXACT [] {comment="preferred label from MONDO"} synonym: "splenic infarction" EXACT [DOID:2533] synonym: "Splenic infarction (disorder)" EXACT [] synonym: "splenic infarcts" RELATED [GARD:0009973] xref: DOID:2533 {source="MONDO:equivalentTo", source="EFO:1001190"} xref: ICD10CM:D73.5 {source="MONDO:equivalentTo", source="DOID:2533"} xref: ICD9:289.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10041648 {source="EFO:1001190"} xref: MESH:D013159 {source="MONDO:equivalentTo", source="DOID:2533", source="EFO:1001190"} xref: MeSH:D013159 xref: MONDO:0006978 xref: SCTID:22996003 {source="MONDO:equivalentTo", source="DOID:2533", source="EFO:1001190"} xref: SNOMEDCT:22996003 xref: UMLS:C0037998 {source="MONDO:equivalentTo", source="DOID:2533"} is_a: EFO:0009002 {source="DOID:2533", source="ICD10CM:D73.5", source="MESH:D013159"} ! splenic disease is_a: MONDO:0020674 ! vascular insufficiency disorder property_value: closeMatch http://identifiers.org/meddra/10041648 property_value: exactMatch DOID:2533 property_value: exactMatch http://identifiers.org/mesh/D013159 property_value: exactMatch http://identifiers.org/snomedct/22996003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037998 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D73.5 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001191 name: steatitis def: "A disease of cats and mink characterized by a marked inflammation of adipose tissue and the deposition of \"ceroid\" pigment in the interstices of the adipose cells. It is believed to be caused by feeding diets containing too much unsaturated fatty acid and too little vitamin E. (Merck Veterinary Manual, 5th ed; Stedman, 25th ed)" [] synonym: "Steatitis" EXACT [] xref: DOID:4025 xref: MeSH:D013231 xref: SNOMEDCT:33882007 is_a: EFO:0005932 ! animal disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001192 name: struma ovarii def: "An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue. The aberrant thyroid tissue shows morphologic changes identical to thyroid adenoma or carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or Meigs syndrome (ascites and pleural effusion)." [NCIT:C7468] synonym: "struma ovarii" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "struma ovarii" EXACT [NCIT:C7468] synonym: "struma ovarii" EXACT [] {comment="preferred label from MONDO"} synonym: "struma ovarii (morphologic abnormality)" EXACT [DOID:2640] synonym: "struma ovarii NOS (morphologic abnormality)" EXACT [DOID:2640] xref: DOID:2640 {source="MONDO:equivalentTo", source="EFO:1001192"} xref: EFO:1001192 {source="MONDO:equivalentTo"} xref: ICDO:9090/0 {source="NCIT:C7468"} xref: MESH:D013330 {source="DOID:2640", source="MONDO:equivalentTo", source="EFO:1001192"} xref: MONDO:0006980 xref: NCIT:C7468 {source="DOID:2640", source="MONDO:equivalentTo"} xref: UMLS:C0038478 {source="DOID:2640", source="MONDO:equivalentTo", source="NCIT:C7468"} is_a: MONDO:0002372 {source="DOID:2640", source="NCIT:C7468"} ! ovarian monodermal and highly specialized teratoma property_value: closeMatch http://identifiers.org/snomedct/189851000 property_value: closeMatch http://identifiers.org/snomedct/24327009 property_value: exactMatch DOID:2640 property_value: exactMatch DOID:2640 property_value: exactMatch http://identifiers.org/mesh/D013330 property_value: exactMatch http://identifiers.org/mesh/D013330 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038478 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038478 property_value: exactMatch NCIT:C7468 property_value: exactMatch NCIT:C7468 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql [Term] id: EFO:1001193 name: subacute bacterial endocarditis def: "ENDOCARDIUM infection that is usually caused by STREPTOCOCCUS. Subacute infective endocarditis evolves over weeks and months with modest toxicity and rare metastatic infection." [] def: "Subacute inflammation of the endocardium. Streptococcus viridans is the usual etiologic agent of subacute bacterial endocarditis. The distinction between \"acute\" and \"subacute\" endocarditis has traditionally been made based on the pathogenic organism and clinical presentation." [NCIT:P378] synonym: "Endocarditis lenta" EXACT [] synonym: "endocarditis lenta" EXACT [DOID:4562] synonym: "Endocarditis, Subacute Bacterial" EXACT [] synonym: "SBE" EXACT ABBREVIATION [NCIT:C34583] synonym: "SBE - Subacute bacterial endocarditis" EXACT [DOID:4562] synonym: "Subacute bacterial endocarditis" EXACT [DOID:4562] synonym: "subacute bacterial endocarditis" EXACT [] {comment="preferred label from MONDO"} synonym: "Subacute bacterial endocarditis (disorder)" EXACT [] synonym: "Subacute endocarditis, lenta" EXACT [DOID:4562] xref: DOID:4562 {source="MONDO:equivalentTo", source="EFO:1001193"} xref: MedDRA:10042271 {source="EFO:1001193"} xref: MESH:D004698 {source="DOID:4562", source="MONDO:equivalentTo", source="EFO:1001193"} xref: MeSH:D004698 xref: MONDO:0006981 xref: NCIT:C34583 {source="DOID:4562", source="MONDO:equivalentTo", source="EFO:1001193"} xref: NCIt:C34583 xref: SCTID:73774007 {source="DOID:4562", source="MONDO:equivalentTo", source="EFO:1001193"} xref: SNOMEDCT:73774007 xref: UMLS:C0014122 {source="DOID:4562", source="NCIT:C34583", source="MONDO:equivalentTo"} is_a: MONDO:0000565 {source="DOID:4562"} ! infective endocarditis is_a: MONDO:0020683 ! acute disease relationship: RO:0000056 EFO:0000544 ! participates_in infection property_value: closeMatch http://identifiers.org/meddra/10042271 property_value: exactMatch DOID:4562 property_value: exactMatch http://identifiers.org/mesh/D004698 property_value: exactMatch http://identifiers.org/snomedct/73774007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014122 property_value: exactMatch NCIT:C34583 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001194 name: subacute thyroiditis def: "Self-limited inflammation of the thyroid gland characterized by the presence of multinucleated giant cells. Patients present with neck pain, often associated with fever and dysphagia. The clinical course includes an initial phase of hyperthyroidism, followed by a phase of hypothyroidism, and eventually a return to normal thyroid function." [NCIT:P378] def: "Spontaneously remitting inflammatory condition of the THYROID GLAND, characterized by FEVER; MUSCLE WEAKNESS; SORE THROAT; severe thyroid PAIN; and an enlarged damaged gland containing GIANT CELLS. The disease frequently follows a viral infection." [] synonym: "De Quervain thyroiditis" EXACT [NCIT:C35828] synonym: "De Quervain's thyroiditis" EXACT [DOID:7165] synonym: "de Quervain's thyroiditis" EXACT [DOID:7165] synonym: "DeQuervain thyroiditis" EXACT [NCIT:C35828] synonym: "Giant-cell thyroiditis" EXACT [] synonym: "giant-cell thyroiditis" EXACT [DOID:7165] synonym: "Granulomatous thyroiditis" EXACT [] synonym: "granulomatous thyroiditis" EXACT [DOID:7165] synonym: "Subacute Granulomatous Thyroiditis" EXACT [] synonym: "Subacute granulomatous thyroiditis" EXACT [DOID:7165, NCIT:C35828] synonym: "Subacute Thyroiditis" EXACT [] synonym: "Subacute thyroiditis" EXACT [DOID:7165, NCIT:C35071] synonym: "subacute thyroiditis" EXACT [] {comment="preferred label from MONDO"} synonym: "Subacute thyroiditis (disorder)" EXACT [] synonym: "Thyroiditis, Subacute" EXACT [] xref: DOID:7165 {source="MONDO:equivalentTo", source="EFO:1001194"} xref: ICD10CM:E06.1 {source="MONDO:equivalentTo", source="DOID:7165"} xref: ICD9:245.1 {source="DOID:7165"} xref: MedDRA:10042298 {source="EFO:1001194"} xref: MESH:D013968 {source="MONDO:equivalentTo", source="DOID:7165", source="EFO:1001194"} xref: MeSH:D013968 xref: MONDO:0006982 xref: NCIT:C35071 {source="MONDO:equivalentTo", source="DOID:7165", source="EFO:1001194"} xref: NCIt:C35071 xref: NCIT:C35828 {source="MONDO:equivalentTo", source="DOID:7165"} xref: SCTID:428041004 {source="MONDO:equivalentTo", source="DOID:7165"} xref: SNOMEDCT:38727009 xref: UMLS:C0040149 {source="MONDO:equivalentTo", source="DOID:7165"} is_a: MONDO:0001949 ! acute thyroiditis property_value: closeMatch http://identifiers.org/meddra/10042298 property_value: exactMatch DOID:7165 property_value: exactMatch http://identifiers.org/mesh/D013968 property_value: exactMatch http://identifiers.org/snomedct/428041004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040149 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E06.1 property_value: exactMatch NCIT:C35071 property_value: exactMatch NCIT:C35828 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001195 name: subclavian steal syndrome def: "A clinically significant reduction in blood supply to the BRAIN STEM and CEREBELLUM (i.e., VERTEBROBASILAR INSUFFICIENCY) resulting from reversal of blood flow through the VERTEBRAL ARTERY from occlusion or stenosis of the proximal subclavian or brachiocephalic artery. Common symptoms include VERTIGO; SYNCOPE; and INTERMITTENT CLAUDICATION of the involved upper extremity. Subclavian steal may also occur in asymptomatic individuals. (From J Cardiovasc Surg 1994;35(1):11-4; Acta Neurol Scand 1994;90(3):174-8)" [] def: "An uncommon neurovascular condition seen with exertion of the upper extremity. It is usually caused by atherosclerotic stenosis or occlusion of the subclavian artery proximal to the origin of the vertebral artery. In order to maintain adequate perfusion of the arm during exercise on the affected side, the narrowed subclavian artery siphons off retrograde blood flow from the ipsilateral vertebral artery. This is possible due to lower blood pressure distal to the site of narrowing and collateral circulation through the circle of Willis. Affected individuals may remain asymptomatic until the oxygen demand generated from upper extremity exercise requires a large enough compensatory volume of blood to be diverted from the vertebral artery to provoke vertebrobasilar insufficiency and its accompanying neurological sequelae. Presenting clinical signs may include pain or numbness of the affected arm (with diminished pulses and a brachial systolic blood pressure differential of greater than 20 mmHg as compared to the opposite arm), vertigo, tinnitus, dysarthria, diplopia and syncope. Notably, unlike cerebral infarction, the clinical course does not lead to chronic neurologic disability. Prognosis for recovery of normal anterograde circulation is favorable following endovascular or surgical intervention." [NCIT:P378] synonym: "subclavian artery stenosis" EXACT [DOID:13002] synonym: "Subclavian artery stenosis (disorder)" EXACT [] synonym: "subclavian steal phenomenon" EXACT [DOID:13002] synonym: "subclavian steal steno-occlusive disease" EXACT [DOID:13002] synonym: "Subclavian Steal Syndrome" EXACT [] synonym: "subclavian steal syndrome" EXACT [] {comment="preferred label from MONDO"} xref: DOID:13002 {source="EFO:1001195", source="MONDO:equivalentTo"} xref: ICD9:435.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13002"} xref: MedDRA:10042335 {source="EFO:1001195"} xref: MESH:D013349 {source="EFO:1001195", source="MONDO:equivalentTo", source="DOID:13002"} xref: MeSH:D013349 xref: MONDO:0006983 xref: NCIT:C35044 {source="EFO:1001195", source="MONDO:equivalentTo", source="DOID:13002"} xref: NCIt:C35044 xref: SCTID:15258001 {source="EFO:1001195", source="MONDO:equivalentTo", source="DOID:13002"} xref: SNOMEDCT:15258001 xref: UMLS:C0038531 {source="NCIT:C35044", source="MONDO:equivalentTo", source="DOID:13002"} is_a: EFO:0003763 {source="EFO:1001195", source="MESH:D013349/inferred"} ! cerebrovascular disorder is_a: MONDO:0002254 {source="DOID:13002", source="NCIT:C35044"} ! syndromic disease property_value: closeMatch http://identifiers.org/meddra/10042335 property_value: exactMatch DOID:13002 property_value: exactMatch http://identifiers.org/mesh/D013349 property_value: exactMatch http://identifiers.org/snomedct/15258001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038531 property_value: exactMatch NCIT:C35044 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001196 name: subdural empyema def: "An intracranial or rarely intraspinal suppurative process invading the space between the inner surface of the DURA MATER and the outer surface of the ARACHNOID." [] def: "An intracranial or rarely intraspinal suppurative process invading the space between the inner surface of the dura mater and the outer surface of the arachnoid." [MESH:D013354] synonym: "Empyema, Subdural" EXACT [] synonym: "subdural abscess" EXACT [DOID:11389] synonym: "Subdural abscess (disorder)" EXACT [] synonym: "subdural empyema" EXACT [] {comment="preferred label from MONDO"} xref: DOID:11389 {source="EFO:1001196", source="MONDO:equivalentTo"} xref: MedDRA:10042360 {source="EFO:1001196"} xref: MESH:D013354 {source="EFO:1001196", source="MONDO:equivalentTo", source="DOID:11389"} xref: MeSH:D013354 xref: MONDO:0006984 xref: SCTID:37660004 {source="EFO:1001196", source="MONDO:equivalentTo", source="DOID:11389"} xref: SNOMEDCT:37660004 xref: UMLS:C0038539 {source="MONDO:equivalentTo", source="DOID:11389"} is_a: EFO:0003097 {source="MESH:D013354"} ! empyema is_a: EFO:1001456 ! central nervous system infection property_value: closeMatch http://identifiers.org/meddra/10042360 property_value: exactMatch DOID:11389 property_value: exactMatch http://identifiers.org/mesh/D013354 property_value: exactMatch http://identifiers.org/snomedct/37660004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038539 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001197 name: subependymal glioma def: "Rare, slow-growing, benign intraventricular tumors, often asymptomatic and discovered incidentally. The tumors are classified histologically as ependymomas and demonstrate a proliferation of subependymal fibrillary astrocytes among the ependymal tumor cells. (From Clin Neurol Neurosurg 1997 Feb;99(1):17-22)" [] synonym: "Glioma, Subependymal" EXACT [] synonym: "mixed subependymoma-ependymoma" EXACT [] synonym: "Subependymal astrocytoma" EXACT [] synonym: "Subependymal astrocytoma NOS" EXACT [] synonym: "WHO grade I Ependymal tumor" EXACT [] xref: DOID:4843 xref: MeSH:D018315 xref: SNOMEDCT:4553004 is_a: EFO:0002422 ! benign neoplasm property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001198 name: substernal goiter def: "An enlarged THYROID GLAND with at least 50% of the gland situated behind the STERNUM. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the TRACHEA leading to deviation, narrowing, and respiratory symptoms." [] def: "An enlarged thyroid gland with at least 50% of the gland situated behind the sternum. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the trachea leading to deviation, narrowing, and respiratory symptoms." [MESH:D006045] synonym: "Goiter, Substernal" EXACT [] synonym: "Retrosternal thyroid goiter" EXACT [] synonym: "retrosternal thyroid goiter" EXACT [DOID:13200] synonym: "retrosternal thyroid goitre" EXACT OMO:0003005 [] synonym: "substernal goiter" EXACT [] {comment="preferred label from MONDO"} synonym: "Substernal goiter (disorder)" EXACT [] xref: DOID:13200 {source="EFO:1001198", source="MONDO:equivalentTo"} xref: MESH:D006045 {source="EFO:1001198", source="MONDO:equivalentTo", source="DOID:13200"} xref: MeSH:D006045 xref: MONDO:0006986 xref: SCTID:66392007 {source="EFO:1001198", source="MONDO:equivalentTo", source="DOID:13200"} xref: SNOMEDCT:66392007 xref: UMLS:C0018024 {source="MONDO:equivalentTo", source="DOID:13200"} is_a: EFO:0004283 {source="DOID:13200", source="EFO:1001198", source="MESH:D006045"} ! goiter property_value: exactMatch DOID:13200 property_value: exactMatch http://identifiers.org/mesh/D006045 property_value: exactMatch http://identifiers.org/snomedct/66392007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018024 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001199 name: subvalvular aortic stenosis def: "A pathological constriction occurring in the region below the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA." [] def: "An aortic stenosis caused by fibromuscular stenosis or hypertrophic cardiomyopathy. It may be associated with congenital heart defects." [NCIT:P378] subset: gard_rare {source="GARD:0005052"} synonym: "Aortic Stenosis, Subvalvular" EXACT [] synonym: "subvalvular aortic stenosis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:5805 {source="EFO:1001199", source="MONDO:equivalentTo"} xref: MedDRA:10042431 {source="EFO:1001199"} xref: MESH:D001020 {source="EFO:1001199", source="MONDO:equivalentTo", source="DOID:5805"} xref: MeSH:D001020 xref: MONDO:0006987 xref: NCIT:C85172 {source="EFO:1001199", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:5805"} xref: NCIt:C85172 xref: SCTID:204368006 {source="MONDO:equivalentTo", source="DOID:5805"} xref: UMLS:C0340375 {source="MONDO:equivalentTo", source="DOID:5805"} is_a: EFO:0000266 ! aortic stenosis is_a: MONDO:0042981 {source="DOID:5805", source="EFO:1001199"} ! aortic valve stenosis property_value: closeMatch http://identifiers.org/meddra/10042431 property_value: exactMatch DOID:5805 property_value: exactMatch http://identifiers.org/mesh/D001020 property_value: exactMatch http://identifiers.org/snomedct/204368006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0340375 property_value: exactMatch NCIT:C85172 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5052/subvalvular-aortic-stenosis xsd:anyURI {source="GARD:0005052"} [Term] id: EFO:1001200 name: sulfhemoglobinemia def: "A morbid condition due to the presence of sulfmethemoglobin in the blood. It is marked by persistent cyanosis, but the blood count does not reveal any special abnormality in the blood. It is thought to be caused by the action of hydrogen sulfide absorbed from the intestine. (Stedman, 25th ed)" [MESH:D013436] synonym: "Sulfemoglobinemia" EXACT [DOID:12451] synonym: "Sulfhemoglobinemia" EXACT [] synonym: "sulfhemoglobinemia" EXACT [] {comment="preferred label from MONDO"} synonym: "Sulfhemoglobinemia (disorder)" EXACT [] xref: DOID:12451 {source="EFO:1001200", source="MONDO:equivalentTo"} xref: MedDRA:10042481 {source="EFO:1001200"} xref: MESH:D013436 {source="EFO:1001200", source="MONDO:equivalentTo", source="DOID:12451"} xref: MeSH:D013436 xref: MONDO:0006988 xref: SCTID:32117000 {source="EFO:1001200", source="MONDO:equivalentTo", source="DOID:12451"} xref: SNOMEDCT:32117000 xref: UMLS:C0038732 {source="MONDO:equivalentTo", source="DOID:12451"} xref: Wikipedia:Sulfhemoglobinemia is_a: MONDO:0044348 {source="SCTID:32117000"} ! hemoglobinopathy property_value: closeMatch http://identifiers.org/meddra/10042481 property_value: exactMatch DOID:12451 property_value: exactMatch http://identifiers.org/mesh/D013436 property_value: exactMatch http://identifiers.org/snomedct/32117000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038732 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001201 name: superior mesenteric artery syndrome def: "DUODENAL OBSTRUCTION by the superior mesenteric artery (MESENTERIC ARTERY, SUPERIOR) which travels in the root of the MESENTERY and crosses over the DUODENUM. The syndrome is characterized by the dilated proximal duodenum and STOMACH, bloating, ABDOMINAL CRAMPS, and VOMITING. Often it is observed in patient with body casts after spinal surgery." [] synonym: "Superior Mesenteric Artery Syndrome" EXACT [] synonym: "Superior mesenteric artery syndrome" EXACT [] synonym: "Superior mesenteric artery syndrome (disorder)" EXACT [] xref: DOID:3557 xref: MedDRA:10054156 xref: MeSH:D013478 xref: NCIt:C85175 xref: SNOMEDCT:197006009 is_a: EFO:1000908 ! duodenal obstruction property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001202 name: suppurative periapical periodontitis def: "Acute or chronic inflammation of tissues surrounding the apical portion of a tooth, associated with the collection of pus, resulting from infection following pulp infection through a carious lesion or as a result of an injury causing pulp necrosis. (Dorland, 27th ed)" [] def: "Localized collection of pus in the tissues that enclose the root of a tooth." [NCIT:P378] synonym: "Apical abscess" EXACT [] synonym: "apical abscess" EXACT [DOID:2562] synonym: "Dentoalveolar abscess" EXACT [] synonym: "dentoalveolar abscess" EXACT [DOID:2562, NCIT:C34913] synonym: "Periapical Abscess" EXACT [] synonym: "periapical abscess" EXACT [DOID:2562] synonym: "Periapical abscess (disorder)" EXACT [] synonym: "periapical dental abscess" EXACT [NCIT:C34913] synonym: "Suppurative apical periodontitis" EXACT [] synonym: "suppurative apical periodontitis" EXACT [DOID:2562] synonym: "suppurative periapical periodontitis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:2562 {source="EFO:1001202", source="MONDO:equivalentTo"} xref: MedDRA:10049607 xref: MESH:D010482 {source="DOID:2562", source="EFO:1001202", source="MONDO:equivalentTo"} xref: MeSH:D010482 xref: MONDO:0006989 xref: NCIT:C34913 {source="DOID:2562", source="MONDO:equivalentTo"} xref: UMLS:C0031024 {source="DOID:2562", source="MONDO:equivalentTo"} is_a: EFO:1001391 {source="DOID:2562", source="MESH:D010482"} ! Periapical Periodontitis relationship: RO:0000056 GO:0006954 ! participates_in inflammatory response property_value: exactMatch DOID:2562 property_value: exactMatch http://identifiers.org/mesh/D010482 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031024 property_value: exactMatch NCIT:C34913 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001203 name: suppurative uveitis def: "Intraocular infection caused mainly by pus-producing bacteria and rarely by fungi. The infection may be caused by an injury or surgical wound (exogenous) or by endogenous septic emboli in such diseases as bacterial endocarditis or meningococcemia." [MESH:D015829] synonym: "suppurative uveitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Uveitis, Suppurative" EXACT [] xref: DOID:13140 {source="MONDO:equivalentTo", source="EFO:1001203"} xref: MESH:D015829 {source="MONDO:equivalentTo", source="DOID:13140", source="EFO:1001203"} xref: MeSH:D015829 xref: MONDO:0006990 xref: UMLS:C0042168 {source="MONDO:equivalentTo", source="DOID:13140"} is_a: EFO:1001231 {source="DOID:13140", source="EFO:1001203", source="MESH:D015829"} ! uveitis property_value: exactMatch DOID:13140 property_value: exactMatch http://identifiers.org/mesh/D015829 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042168 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001204 name: sweat gland neoplasm alt_id: MONDO:0021219 def: "A benign or malignant neoplasm arising from the sweat glands." [NCIT:C3398] synonym: "neoplasm of sweat gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3398] synonym: "neoplasm of sweat gland (disorder)" EXACT [] synonym: "neoplasm of the sweat gland" EXACT [NCIT:C3398] synonym: "sweat gland neoplasm" EXACT [NCIT:C3398] synonym: "sweat gland neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "sweat gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "Sweat Gland Neoplasms" EXACT [] synonym: "sweat gland neoplasms" EXACT [NCIT:C3398] synonym: "sweat gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3398] synonym: "Sweat gland tumor (morphologic abnormality)" EXACT [] synonym: "sweat gland tumor (morphologic abnormality)" EXACT [DOID:2664] synonym: "Sweat gland tumor NOS (morphologic abnormality)" EXACT [] synonym: "sweat gland tumor NOS (morphologic abnormality)" EXACT [DOID:2664] synonym: "sweat gland tumour" EXACT OMO:0003005 [] synonym: "sweat gland tumour (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "sweat gland tumour NOS (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "tumor of sweat gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3398] synonym: "tumor of the Sweat gland" EXACT [] synonym: "tumor of the sweat gland" EXACT [DOID:2664, NCIT:C3398] synonym: "tumour of sweat gland" EXACT OMO:0003005 [] synonym: "tumour of the sweat gland" EXACT OMO:0003005 [] xref: DOID:2664 {source="MONDO:equivalentTo"} xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8400/1 {source="NCIT:C3398"} xref: MESH:D013544 {source="DOID:2664", source="MONDO:equivalentTo"} xref: MeSH:D013544 xref: MONDO:0002381 xref: NCIT:C3398 {source="DOID:2664", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIt:C3398 xref: SCTID:126490003 {source="DOID:2664", source="MONDO:equivalentTo"} xref: SNOMEDCT:126490003 xref: UMLS:C0038987 {source="DOID:2664", source="MONDO:equivalentTo", source="NCIT:C3398"} is_a: EFO:1000772 {source="DOID:2664", source="MESH:D013544", source="MONDO:Redundant"} ! sweat gland disease is_a: MONDO:0002297 {source="NCIT:C3398"} ! epidermal appendage tumor relationship: EFO:0000784 UBERON:0001820 ! has_disease_location sweat gland property_value: exactMatch DOID:2664 property_value: exactMatch http://identifiers.org/mesh/D013544 property_value: exactMatch http://identifiers.org/snomedct/126490003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038987 property_value: exactMatch NCIT:C3398 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001205 name: sympathetic ophthalmia def: "Granulomatous uveitis which follows in one eye after a penetrating injury to the other eye; the secondarily affected eye is called the sympathizing eye, and the injured eye is called the exciting or activating eye." [] def: "Sympathetic ophthalmia (SO) is a bilateral granulomatous anterior uveitis usually occurring within the three months following trauma or a surgical procedure involving one eye." [Orphanet:79098] subset: ordo_disease {source="Orphanet:79098"} synonym: "Ophthalmia, Sympathetic" EXACT [] synonym: "sympathetic ophthalmia" EXACT [MONDO:0006991] synonym: "sympathetic ophthalmia" EXACT [] {comment="preferred label from MONDO"} synonym: "Sympathetic uveitis" EXACT [] synonym: "sympathetic uveitis" EXACT [DOID:12029, ICD9CM:360.11, Orphanet:79098] synonym: "Sympathetic uveitis (disorder)" EXACT [] xref: DOID:12029 {source="MONDO:equivalentTo", source="EFO:1001205"} xref: ICD9:360.11 {source="DOID:12029", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10042742 {source="Orphanet:79098", source="EFO:1001205", source="Orphanet:79098/e"} xref: MESH:D009879 {source="DOID:12029", source="MONDO:equivalentTo", source="Orphanet:79098", source="EFO:1001205", source="Orphanet:79098/e"} xref: MeSH:D009879 xref: MONDO:0019198 xref: Orphanet:79098 {source="MONDO:equivalentTo"} xref: SCTID:75315001 {source="DOID:12029", source="MONDO:equivalentTo", source="EFO:1001205"} xref: SNOMEDCT:75315001 xref: UMLS:C0029077 {source="DOID:12029", source="MONDO:equivalentTo", source="Orphanet:79098", source="Orphanet:79098/e"} is_a: EFO:1001082 {source="DOID:12029", source="EFO:1001205", source="MESH:D009879"} ! panuveitis is_a: MONDO:0017634 {source="Orphanet:79098"} ! non-infectious anterior uveitis property_value: closeMatch http://identifiers.org/meddra/10042742 property_value: exactMatch DOID:12029 property_value: exactMatch http://identifiers.org/mesh/D009879 property_value: exactMatch http://identifiers.org/snomedct/75315001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029077 property_value: exactMatch Orphanet:79098 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001206 name: syphilitic aortitis def: "Cardiovascular manifestations of SYPHILIS, an infection of TREPONEMA PALLIDUM. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the AORTA and the AORTIC VALVE. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic ANEURYSM." [] def: "Cardiovascular manifestations of syphilis, an infection of treponema pallidum. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the aorta and the aortic valve. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic aneurysm." [MESH:D013589] synonym: "Syphilis, Cardiovascular" EXACT [] synonym: "Syphilitic aortitis" EXACT [] synonym: "syphilitic aortitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Syphilitic aortitis (disorder)" EXACT [] xref: DOID:11582 xref: ICD10:A52.02 xref: ICD10CM:A52.02 {source="MONDO:equivalentTo", source="EFO:1001206"} xref: ICD9:093.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:1001206"} xref: MedDRA:10042900 {source="EFO:1001206"} xref: MeSH:D013589 xref: MONDO:0006992 xref: SCTID:20735004 {source="MONDO:equivalentTo", source="EFO:1001206"} xref: SNOMEDCT:20735004 xref: UMLS:C0003511 {source="MONDO:equivalentTo"} is_a: EFO:0007504 {source="EFO:1001206"} ! syphilis property_value: closeMatch http://identifiers.org/meddra/10042900 property_value: exactMatch http://identifiers.org/snomedct/20735004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003511 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A52.02 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001207 name: systolic heart failure def: "Heart failure caused by abnormal myocardial contraction during SYSTOLE leading to defective cardiac emptying." [] def: "Heart failure caused by abnormal myocardial contraction during systole leading to defective cardiac emptying." [MESH:D054143] synonym: "Heart Failure, Systolic" EXACT [] synonym: "systolic heart failure" EXACT [] {comment="preferred label from MONDO"} xref: DOID:9651 {source="MONDO:equivalentTo", source="EFO:1001207"} xref: ICD10:I50.2 xref: ICD9:428.2 {source="DOID:9651", source="EFO:1001207"} xref: ICD9:428.20 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9651"} xref: MedDRA:10074631 {source="EFO:1001207"} xref: MESH:D054143 {source="MONDO:equivalentTo", source="DOID:9651", source="EFO:1001207"} xref: MeSH:D054143 xref: MONDO:0006993 xref: SCTID:417996009 {source="MONDO:equivalentTo", source="DOID:9651", source="EFO:1001207"} xref: SNOMEDCT:417996009 xref: UMLS:C1135191 {source="MONDO:equivalentTo", source="DOID:9651"} is_a: EFO:0000373 {source="DOID:9651", source="EFO:1001207"} ! congestive heart failure property_value: closeMatch http://identifiers.org/meddra/10074631 property_value: exactMatch DOID:9651 property_value: exactMatch http://identifiers.org/mesh/D054143 property_value: exactMatch http://identifiers.org/snomedct/417996009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1135191 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001208 name: tarsal tunnel syndrome def: "Entrapment of the distal branches of the posterior TIBIAL NERVE (which divides into the medial plantar, lateral plantar, and calcanial nerves) in the tarsal tunnel, which lies posterior to the internal malleolus and beneath the retinaculum of the flexor muscles of the foot. Symptoms include ankle pain radiating into the foot which tends to be aggravated by walking. Examination may reveal Tinel's sign (radiating pain following nerve percussion) over the tibial nerve at the ankle, weakness and atrophy of the small foot muscles, or loss of sensation in the foot. (From Foot Ankle 1990;11(1):47-52)" [] def: "Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the nerve and cause the pain associated with tarsal tunnel syndrome." [https://rarediseases.info.nih.gov/diseases/7733/tarsal-tunnel-syndrome] subset: gard_rare {source="GARD:0007733"} synonym: "neuropathy of the posterior tibial nerve and its branches" RELATED [GARD:0007733] synonym: "posterior tibial nerve neuralgia" RELATED [GARD:0007733] synonym: "Tarsal Tunnel Syndrome" EXACT [] synonym: "tarsal tunnel syndrome" EXACT [] {comment="preferred label from MONDO"} xref: DOID:12526 {source="MONDO:equivalentTo", source="EFO:1001208"} xref: ICD10:G57.5 xref: ICD10CM:G57.5 {source="DOID:12526", source="MONDO:equivalentTo", source="EFO:1001208"} xref: ICD9:355.5 {source="DOID:12526", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10043121 {source="EFO:1001208"} xref: MESH:D013641 {source="DOID:12526", source="MONDO:equivalentTo", source="EFO:1001208"} xref: MeSH:D013641 xref: MONDO:0006994 xref: NCIT:C85183 {source="DOID:12526", source="MONDO:equivalentTo", source="EFO:1001208"} xref: NCIt:C85183 xref: SCTID:47374004 {source="DOID:12526", source="MONDO:equivalentTo", source="EFO:1001208"} xref: SNOMEDCT:47374004 xref: UMLS:C0039319 {source="DOID:12526", source="NCIT:C85183", source="MONDO:equivalentTo"} is_a: EFO:1001213 {source="DOID:12526", source="EFO:1001208", source="MESH:D013641"} ! tibial neuropathy is_a: MONDO:0002254 {source="NCIT:C85183"} ! syndromic disease property_value: closeMatch http://identifiers.org/meddra/10043121 property_value: exactMatch DOID:12526 property_value: exactMatch http://identifiers.org/mesh/D013641 property_value: exactMatch http://identifiers.org/snomedct/47374004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039319 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G57.5 property_value: exactMatch NCIT:C85183 property_value: IAO:0000117 "Dani Welter" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7733/tarsal-tunnel-syndrome xsd:anyURI {source="GARD:0007733"} [Term] id: EFO:1001209 name: temporal arteritis def: "A large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries." [https://orcid.org/0000-0001-5208-3432, Orphanet:397] def: "A systemic autoimmune disorder that typically affects medium and large ARTERIES, usually leading to occlusive granulomatous vasculitis with transmural infiltrate containing multinucleated GIANT CELLS. The TEMPORAL ARTERY is commonly involved. This disorder appears primarily in people over the age of 50. Symptoms include FEVER; FATIGUE; HEADACHE; visual impairment; pain in the jaw and tongue; and aggravation of pain by cold temperatures. (From Adams et al., Principles of Neurology, 6th ed)" [] subset: ordo_disease {source="Orphanet:397"} synonym: "arteritis cranialis" RELATED [GARD:0009615] synonym: "arteritis temporalis" RELATED [GARD:0009615] synonym: "cranial arteritis" RELATED [OMIM:187360] synonym: "GCA" RELATED ABBREVIATION [GARD:0009615] synonym: "Giant Cell Arteritis" EXACT [] synonym: "Giant cell Arteritis" EXACT [] synonym: "Giant cell arteritis" EXACT [] synonym: "giant cell arteritis" EXACT [DOID:13375, ICD9CM:446.5, NCIT:C35065, OMIM:187360] synonym: "Giant cell arteritis (disorder)" EXACT [] synonym: "Giant cell arteritis NOS (disorder)" EXACT [] synonym: "Horton disease" EXACT [Orphanet:397] synonym: "Horton's arteritis" RELATED [GARD:0009615] synonym: "Horton's disease" EXACT [DOID:13375] synonym: "Horton's giant cell arteritis" RELATED [GARD:0009615] synonym: "Horton's temporal arteritis" RELATED [GARD:0009615] synonym: "Horton’s disease" RELATED [GARD:0009615] synonym: "Horton’s syndrome" RELATED [GARD:0009615] synonym: "inflammation of temporal artery" EXACT [] synonym: "polymyalgia rheumatica" RELATED [OMIM:187360] synonym: "temporal arteritis" EXACT [OMIM:187360, Orphanet:397] synonym: "temporal arteritis" EXACT [] {comment="preferred label from MONDO"} synonym: "Temporal arteritis (disorder)" EXACT [] synonym: "temporal artery inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:13375 {source="MONDO:equivalentTo", source="EFO:1001209"} xref: ICD10:M31.6 xref: ICD9:446.5 {source="DOID:13375"} xref: MedDRA:10018250 {source="Orphanet:397/e", source="Orphanet:397"} xref: MedDRA:10043207 {source="Orphanet:397/e", source="Orphanet:397", source="EFO:1001209"} xref: MeSH:D013700 xref: MONDO:0008538 xref: NCIT:C35065 {source="MONDO:equivalentTo", source="DOID:13375", source="EFO:1001209"} xref: NCIt:C35065 xref: OMIM:187360 {source="Orphanet:397/e", source="MONDO:equivalentTo", source="DOID:13375", source="Orphanet:397", source="EFO:1001209"} xref: Orphanet:397 {source="OMIM:187360", source="MONDO:equivalentTo"} xref: SCTID:400130008 {source="MONDO:equivalentTo", source="DOID:13375", source="EFO:1001209"} xref: SNOMEDCT:400130008 xref: UMLS:C1956391 {source="NCIT:C35065", source="Orphanet:397/e", source="OMIM:187360", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:397"} is_a: EFO:0003086 ! kidney disease is_a: MONDO:0002341 {source="NCIT:C35065"} ! granulomatous angiitis is_a: MONDO:0003346 {source="DOID:13375"} ! central nervous system vasculitis is_a: MONDO:0015488 {source="Orphanet:397"} ! predominantly large-vessel vasculitis property_value: closeMatch http://identifiers.org/meddra/10018250 property_value: closeMatch http://identifiers.org/meddra/10043207 property_value: exactMatch DOID:13375 property_value: exactMatch http://identifiers.org/snomedct/400130008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1956391 property_value: exactMatch https://omim.org/entry/187360 property_value: exactMatch NCIT:C35065 property_value: exactMatch Orphanet:397 property_value: excluded_subClassOf MONDO:0019724 {source="Orphanet:397"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001210 name: tethered spinal cord syndrome def: "A progressive neurological disorder characterized by the limitation of movement of the spinal cord within the spine. It is caused by the presence of congenital or acquired tissue attachments in the spinal cord. Signs and symptoms include low back pain, scoliosis, weakness in the legs, and incontinence." [NCIT:P378] def: "Congenital defects of closure of one or more vertebral arches, which may be associated with malformations of the spinal cord, nerve roots, congenital fibrous bands, lipomas, and congenital cysts. These malformations range from mild (e.g., SPINA BIFIDA OCCULTA) to severe, including rachischisis where there is complete failure of neural tube and spinal cord fusion, resulting in exposure of the spinal cord at the surface. Spinal dysraphism includes all forms of spina bifida. The open form is called SPINA BIFIDA CYSTICA and the closed form is SPINA BIFIDA OCCULTA. (From Joynt, Clinical Neurology, 1992, Ch55, p34)" [] synonym: "spinal cord syndrome" EXACT [NCIT:C99080] synonym: "Spinal Dysraphism" EXACT [] synonym: "spinal dysraphism" EXACT [] synonym: "tethered cord" EXACT [NCIT:C99080] synonym: "tethered spinal cord syndrome" EXACT [] {comment="preferred label from MONDO"} xref: DOID:1089 {source="EFO:1001210", source="MONDO:equivalentTo"} xref: ICD9:741 {source="DOID:1089"} xref: ICD9:756.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D016135 {source="DOID:1089", source="MONDO:relatedTo", source="EFO:1001210"} xref: MeSH:D016135 xref: MONDO:0006995 xref: NCIT:C101214 {source="DOID:1089", source="MONDO:relatedTo"} xref: NCIT:C99080 {source="EFO:1001210", source="MONDO:equivalentTo"} xref: NCIt:C99080 xref: SCTID:249491000119100 {source="MONDO:equivalentTo"} xref: SCTID:67531005 {source="DOID:1089", source="MONDO:relatedTo"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0009488 {source="DOID:1089"} ! spinal cord disease is_a: MONDO:0002254 {source="NCIT:C99080"} ! syndromic disease property_value: exactMatch DOID:1089 property_value: exactMatch http://identifiers.org/snomedct/249491000119100 property_value: exactMatch NCIT:C99080 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001211 name: thromboangiitis obliterans def: "A non-atherosclerotic, inflammatory thrombotic disease that commonly involves small and medium-sized arteries or veins in the extremities. It is characterized by occlusive THROMBOSIS and FIBROSIS in the vascular wall leading to digital and limb ISCHEMIA and ulcerations. Thromboangiitis obliterans is highly associated with tobacco smoking." [] def: "A rare inflammatory non-necrotizing vascular disease affecting the small- and medium-sized arteries and veins of the upper and lower extremities characterized by endarteritis and vaso-occlusion due to occlusive thrombus development. The development and progression of the disease is consistently associated with exposure to tobacco." [https://orcid.org/0000-0001-5208-3432, Orphanet:36258] subset: ordo_disease {source="Orphanet:36258"} synonym: "BUERGER disease" RELATED [OMIM:211480] synonym: "Buerger's disease" EXACT [DOID:12918, NCIT:C35070] synonym: "inflammatory occlusive peripheral vascular disease" RELATED [GARD:0005969] synonym: "occlusive peripheral vascular disease" RELATED [GARD:0005969] synonym: "Presenile gangrene" EXACT [] synonym: "presenile gangrene" EXACT [DOID:12918] synonym: "Presenile gangrene (disorder)" EXACT [] synonym: "TAO" RELATED ABBREVIATION [GARD:0005969] synonym: "Thromboangiitis Obliterans" EXACT [] synonym: "Thromboangiitis obliterans" EXACT [] synonym: "thromboangiitis obliterans" EXACT [DOID:12918, OMIM:211480, Orphanet:36258] synonym: "thromboangiitis obliterans" EXACT [] {comment="preferred label from MONDO"} synonym: "Thromboangiitis obliterans (disorder)" EXACT [] synonym: "Thromboangiitis obliterans [Buerger's disease]" EXACT [] synonym: "thromboangiitis obliterans [Buerger's disease]" EXACT [DOID:12918, ICD9CM:443.1] synonym: "Thromboangiitis obliterans NOS (disorder)" EXACT [] xref: DOID:12918 {source="EFO:1001211", source="MONDO:equivalentTo"} xref: ICD10:I73.1 xref: ICD9:443.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12918"} xref: MedDRA:10043540 {source="EFO:1001211"} xref: MESH:D013919 {source="EFO:1001211", source="MONDO:equivalentTo", source="DOID:12918"} xref: MeSH:D013919 xref: MONDO:0008889 xref: NCIT:C35070 {source="EFO:1001211", source="MONDO:equivalentTo", source="DOID:12918"} xref: NCIt:C35070 xref: OMIM:211480 {source="EFO:1001211", source="Orphanet:36258/e", source="MONDO:equivalentTo", source="DOID:12918", source="Orphanet:36258"} xref: Orphanet:36258 {source="OMIM:211480", source="MONDO:equivalentTo"} xref: SCTID:52403007 {source="EFO:1001211", source="MONDO:equivalentTo", source="DOID:12918"} xref: SNOMEDCT:52403007 xref: UMLS:C0040021 {source="OMIM:211480", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:12918", source="NCIT:C35070", source="Orphanet:36258"} is_a: EFO:0003875 {source="DOID:12918", source="EFO:1001211", source="NCIT:C35070"} ! peripheral vascular disease is_a: MONDO:0015489 {source="Orphanet:36258"} ! predominantly medium-vessel vasculitis property_value: closeMatch http://identifiers.org/meddra/10043540 property_value: exactMatch DOID:12918 property_value: exactMatch http://identifiers.org/mesh/D013919 property_value: exactMatch http://identifiers.org/snomedct/52403007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040021 property_value: exactMatch https://omim.org/entry/211480 property_value: exactMatch NCIT:C35070 property_value: exactMatch Orphanet:36258 property_value: excluded_subClassOf MONDO:0019724 {source="Orphanet:36258"} property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001212 name: thyroid crisis def: "A dangerous life-threatening hypermetabolic condition characterized by high FEVER and dysfunction of the cardiovascular, the nervous, and the gastrointestinal systems." [] def: "Acute onset of severe, life-threatening hyperthyroidism caused by a sudden release of excessive thyroid hormone." [NCIT:P378] synonym: "Thyroid Crisis" EXACT [] synonym: "Thyroid crisis" EXACT [] synonym: "thyroid crisis" EXACT [] {comment="preferred label from MONDO"} synonym: "thyroid crisis" EXACT [DOID:12837, MONDO:ambiguous] synonym: "thyroid crisis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "thyroid storm" EXACT [NCIT:C112836] synonym: "thyrotoxic crisis" EXACT [DOID:12837] synonym: "Thyrotoxic crisis (disorder)" EXACT [] xref: DOID:12837 {source="MONDO:equivalentTo", source="EFO:1001212"} xref: HP:0011782 {source="MONDO:otherHierarchy"} xref: ICD10:E05.5 xref: ICD9:242.81 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:242.91 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10043705 {source="EFO:1001212"} xref: MESH:D013958 {source="MONDO:equivalentTo", source="DOID:12837", source="EFO:1001212"} xref: MeSH:D013958 xref: MONDO:0006996 xref: NCIT:C112836 {source="MONDO:equivalentTo", source="DOID:12837"} xref: SCTID:29028009 {source="MONDO:equivalentTo", source="DOID:12837", source="EFO:1001212"} xref: SNOMEDCT:29028009 xref: UMLS:C0040127 {source="MONDO:equivalentTo", source="DOID:12837"} is_a: EFO:0009189 {source="MESH:D013958/inferred", source="NCIT:C112836"} ! hyperthyroidism property_value: closeMatch http://identifiers.org/meddra/10043705 property_value: exactMatch DOID:12837 property_value: exactMatch http://identifiers.org/mesh/D013958 property_value: exactMatch http://identifiers.org/snomedct/29028009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040127 property_value: exactMatch NCIT:C112836 property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000589 "thyroid crisis (disease)" xsd:string [Term] id: EFO:1001213 name: tibial neuropathy def: "Disease of the TIBIAL NERVE (also referred to as the posterior tibial nerve). The most commonly associated condition is the TARSAL TUNNEL SYNDROME. However, LEG INJURIES; ISCHEMIA; and inflammatory conditions (e.g., COLLAGEN DISEASES) may also affect the nerve. Clinical features include PARALYSIS of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32)" [] def: "Disease of the tibial nerve (also referred to as the posterior tibial nerve). The most commonly associated condition is the tarsal tunnel syndrome. However, leg injuries; ischemia; and inflammatory conditions (e.g., collagen diseases) may also affect the nerve. Clinical features include paralysis of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32)" [MESH:D020429] synonym: "Posterior tibial neuropathy" EXACT [DOID:1187] synonym: "Posterior tibial neuropathy (disorder)" EXACT [] synonym: "Tibial Neuropathy" EXACT [] synonym: "tibial neuropathy" EXACT [] {comment="preferred label from MONDO"} synonym: "Tibial neuropathy (disorder)" EXACT [] synonym: "Tibial neuropathy (disorder) [Ambiguous]" EXACT [] synonym: "tibial neuropathy (disorder) [ambiguous]" EXACT [DOID:1187] xref: DOID:1187 {source="EFO:1001213", source="MONDO:equivalentTo"} xref: MESH:D020429 {source="DOID:1187", source="EFO:1001213", source="MONDO:equivalentTo"} xref: MeSH:D020429 xref: MONDO:0006997 xref: SCTID:399076001 {source="DOID:1187", source="EFO:1001213", source="MONDO:equivalentTo"} xref: SNOMEDCT:399076001 xref: UMLS:C0751932 {source="DOID:1187", source="MONDO:equivalentTo"} is_a: EFO:0009558 {source="DOID:1187", source="MESH:D020429"} ! mononeuropathy property_value: exactMatch DOID:1187 property_value: exactMatch http://identifiers.org/mesh/D020429 property_value: exactMatch http://identifiers.org/snomedct/399076001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751932 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001214 name: tonsil cancer def: "A primary or metastatic malignant neoplasm that affects the tonsil." [NCIT:C7404] synonym: "cancer of tonsil" BROAD [MONDO:patterns/cancer] synonym: "cancer of tonsil" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of faucial tonsil" EXACT [DOID:8858] synonym: "malignant neoplasm of palatine tonsil" EXACT [DOID:8858] synonym: "malignant neoplasm of the tonsil" EXACT [NCIT:C7404] synonym: "malignant neoplasm of tonsil" EXACT [MONDO:patterns/cancer, NCIT:C7404] synonym: "malignant neoplasm of tonsil, faucial" EXACT [DOID:8858] synonym: "malignant neoplasm of tonsil, faucial" EXACT [DOID:8858, MTHICD9_2006:146.0] synonym: "malignant tonsil neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7404] synonym: "malignant tonsil tumor" EXACT [NCIT:C7404] synonym: "malignant tonsil tumour" EXACT OMO:0003005 [] synonym: "malignant tonsillar neoplasm" EXACT [NCIT:C7404] synonym: "malignant tonsillar tumor" EXACT [DOID:8858, NCIT:C7404] synonym: "malignant tonsillar tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of the tonsil" EXACT [NCIT:C7404] synonym: "malignant tumor of tonsil" EXACT [NCIT:C7404] synonym: "malignant tumour of the tonsil" EXACT OMO:0003005 [] synonym: "malignant tumour of tonsil" EXACT OMO:0003005 [] synonym: "tonsil cancer" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "tonsil cancer" EXACT [MONDO:patterns/location] synonym: "tonsil cancer" EXACT [] {comment="preferred label from MONDO"} xref: COHD:4181339 {source="MONDO:equivalentTo"} xref: DOID:8858 {source="MONDO:equivalentTo", source="EFO:1001214"} xref: EFO:1001214 {source="MONDO:equivalentTo"} xref: ICD10:C09 {source="MONDO:equivalentTo", source="DOID:8858"} xref: ICD10:C09.9 {source="DOID:8858"} xref: ICD10CM:C09 {source="MONDO:equivalentTo", source="DOID:8858"} xref: ICD9:146.0 {source="MONDO:equivalentTo", source="DOID:8858", source="i2s"} xref: ICD9:146.0 {source="MONDO:equivalentTo", source="DOID:8858", source="MONDO:i2s"} xref: MedDRA:10044002 {source="EFO:1001214"} xref: MESH:D014067 {source="MONDO:equivalentTo", source="DOID:8858", source="EFO:1001214"} xref: MONDO:0006998 xref: NCIT:C7404 {source="MONDO:equivalentTo", source="DOID:8858"} xref: SCTID:363393007 {source="MONDO:equivalentTo", source="DOID:8858"} xref: UMLS:C0751560 {source="MONDO:equivalentTo", source="DOID:8858", source="NCIT:C7404"} is_a: MONDO:0004685 {source="MONDO:Redundant"} ! Waldeyer's ring cancer is_a: MONDO:0021250 {source="MONDO:Redundant", source="NCIT:C7404"} ! tonsil neoplasm property_value: closeMatch http://identifiers.org/meddra/10044002 property_value: closeMatch http://identifiers.org/meddra/10044002 property_value: closeMatch http://identifiers.org/snomedct/187671001 property_value: closeMatch http://identifiers.org/snomedct/187672008 property_value: closeMatch http://identifiers.org/snomedct/187674009 property_value: closeMatch http://identifiers.org/snomedct/93937006 property_value: exactMatch DOID:8858 property_value: exactMatch DOID:8858 property_value: exactMatch http://identifiers.org/mesh/D014067 property_value: exactMatch http://identifiers.org/mesh/D014067 property_value: exactMatch http://identifiers.org/snomedct/363393007 property_value: exactMatch http://identifiers.org/snomedct/363393007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751560 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751560 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/C09 property_value: exactMatch NCIT:C7404 property_value: exactMatch NCIT:C7404 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/cancer.yaml [Term] id: EFO:1001215 name: obsolete_tooth ankylosis def: "Solid fixation of a tooth resulting from fusion of the cementum and alveolar bone, with obliteration of the periodontal ligament. It is uncommon in the deciduous dentition and very rare in permanent teeth. (Jablonski's Dictionary of Dentistry, 1992)" [] synonym: "Ankylosis of teeth" EXACT [] synonym: "Ankylosis of tooth (disorder)" EXACT [] synonym: "Tooth Ankylosis" EXACT [] xref: DOID:12661 xref: MedDRA:10044019 xref: MeSH:D020254 xref: SNOMEDCT:14901003 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.98" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication\nUse http://www.orpha.net/ORDO/Orphanet_1077\nLabel : Dental ankylosis" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_1077 [Term] id: EFO:1001216 name: tooth disease def: "A disease involving the calcareous tooth." [https://orcid.org/0000-0002-6601-2165] def: "Any disease of the teeth" [] synonym: "calcareous tooth disease" EXACT [MONDO:patterns/location] synonym: "calcareous tooth disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "dental disease" EXACT [] synonym: "dental disorder" EXACT [DOID:1091] synonym: "disease of calcareous tooth" EXACT [MONDO:patterns/location_top] synonym: "disease of teeth" EXACT [] synonym: "disease or disorder of calcareous tooth" EXACT [] synonym: "disorder of calcareous tooth" EXACT [MONDO:patterns/location_top] synonym: "tooth disorder" EXACT [NCIT:C35077] synonym: "tooth disorder" EXACT [] {comment="preferred label from MONDO"} xref: DOID:1091 {source="MONDO:equivalentTo", source="EFO:1001216"} xref: ICD10:K08 xref: MESH:D014076 {source="MONDO:equivalentTo", source="DOID:1091"} xref: MeSH:DO14076 xref: MONDO:0006999 xref: NCIT:C35077 {source="MONDO:equivalentTo"} xref: SCTID:234947003 {source="MONDO:equivalentTo", source="DOID:1091", source="EFO:1001216"} xref: SNOMEDCT:234947003 xref: UMLS:C0040435 {source="NCIT:C35077", source="MONDO:equivalentTo", source="DOID:1091"} is_a: EFO:0002461 ! skeletal system disease is_a: EFO:1001047 {source="DOID:1091", source="EFO:1001216", source="NCIT:C35077/inferred"} ! mouth disease property_value: exactMatch DOID:1091 property_value: exactMatch http://identifiers.org/mesh/D014076 property_value: exactMatch http://identifiers.org/snomedct/234947003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040435 property_value: exactMatch NCIT:C35077 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001217 name: Treponema infectious disease def: "An disease caused by infection with Treponema." [MONDO:patterns/specific_infectious_disease_by_agent] def: "Infections with bacteria of the genus TREPONEMA." [] synonym: "bejel" NARROW [MESH:D014211] synonym: "Bejels" NARROW [MESH:D014211] synonym: "infection, Treponemal" RELATED [MESH:D014211] synonym: "infections, Treponemal" RELATED [MESH:D014211] synonym: "Treponema caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Treponema disease or disorder" EXACT [] synonym: "Treponema infection" EXACT [] synonym: "Treponema infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Treponemal disease" EXACT [] synonym: "Treponemal infection" EXACT [] synonym: "Treponemal infection" RELATED [MESH:D014211] synonym: "Treponemal Infections" EXACT [] synonym: "Treponemal infectious disease" EXACT [] xref: DOID:2265 xref: MESH:D014211 {source="MONDO:equivalentTo", source="EFO:1001217"} xref: MeSH:D014211 xref: MONDO:0007000 xref: NCIT:C85197 {source="MONDO:equivalentTo"} is_a: EFO:0003955 ! bacterial sexually transmitted disease is_a: EFO:0009567 ! Spirochaetales Infections is_a: MONDO:0021678 {source="MESH:D014211"} ! gram-negative bacterial infections property_value: exactMatch http://identifiers.org/mesh/D014211 property_value: exactMatch NCIT:C85197 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001218 name: tricuspid valve prolapse def: "Abnormal protrusion of one or more of the leaflets of TRICUSPID VALVE into the RIGHT ATRIUM during SYSTOLE. This allows the backflow of blood into right atrium leading to TRICUSPID VALVE INSUFFICIENCY; SYSTOLIC MURMURS. Its most common cause is not primary valve abnormality but rather the dilation of the RIGHT VENTRICLE and the tricuspid annulus." [] def: "Abnormal protrusion of one or more of the leaflets of tricuspid valve into the right atrium during systole. This allows the backflow of blood into right atrium leading to tricuspid valve insufficiency; systolic murmurs. Its most common cause is not primary valve abnormality but rather the dilation of the right ventricle and the tricuspid annulus." [MESH:D014263] subset: ordo_morphological_anomaly {source="Orphanet:95458"} synonym: "Tricuspid Valve Prolapse" EXACT [] synonym: "tricuspid valve prolapse" EXACT [MONDO:ambiguous] synonym: "tricuspid valve prolapse" EXACT [] {comment="preferred label from MONDO"} synonym: "tricuspid valve prolapse (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Tricuspid valve prolapse (disorder)" EXACT [] xref: DOID:5644 {source="MONDO:equivalentTo", source="EFO:1001218"} xref: HP:0001704 {source="MONDO:otherHierarchy"} xref: MedDRA:10066862 {source="Orphanet:95458", source="Orphanet:95458/e"} xref: MESH:D014263 {source="DOID:5644", source="MONDO:equivalentTo", source="Orphanet:95458", source="Orphanet:95458/e", source="EFO:1001218"} xref: MeSH:D014263 xref: MONDO:0007001 xref: Orphanet:95458 {source="MONDO:equivalentObsolete"} xref: SCTID:253383003 {source="DOID:5644", source="MONDO:equivalentTo"} xref: UMLS:C0040962 {source="DOID:5644", source="MONDO:equivalentTo", source="Orphanet:95458", source="Orphanet:95458/e"} is_a: EFO:0005775 {source="EFO:1001218"} ! aortic disease is_a: MONDO:0020289 {source="Orphanet:95458"} ! congenital tricuspid malformation property_value: closeMatch http://identifiers.org/meddra/10066862 property_value: exactMatch DOID:5644 property_value: exactMatch http://identifiers.org/mesh/D014263 property_value: exactMatch http://identifiers.org/snomedct/253383003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040962 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000589 "tricuspid valve prolapse (disease)" xsd:string [Term] id: EFO:1001219 name: trigeminal neuralgia def: "A syndrome characterized by recurrent episodes of excruciating pain lasting several seconds or longer in the sensory distribution of the TRIGEMINAL NERVE. Pain may be initiated by stimulation of trigger points on the face, lips, or gums or by movement of facial muscles or chewing. Associated conditions include MULTIPLE SCLEROSIS, vascular anomalies, ANEURYSMS, and neoplasms. (Adams et al., Principles of Neurology, 6th ed, p187)" [] def: "Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. The pain may result from a blood vessel pressing against the trigeminal nerve (the nerve that carries pain, feeling, and other sensations from the brain to the skin of theface), as a complication of multiple sclerosis, or due to compression of the nerve by a tumor or cyst. In some cases, the cause is unknown. Treatment options include medicines, surgery, and complementary approaches." [https://rarediseases.info.nih.gov/diseases/7805/trigeminal-neuralgia] subset: gard_rare {source="GARD:0007805"} subset: ordo_disease {source="Orphanet:221091"} synonym: "neuralgia of trigeminal nerve" EXACT [MONDO:design_pattern] synonym: "Tic douloureux" RELATED [OMIM:190400] synonym: "Trifacial neuralgia" EXACT [] synonym: "trifacial neuralgia" EXACT [DOID:12098] synonym: "trifocal neuralgia" EXACT [DOID:12098] synonym: "trigeminal nerve neuralgia" EXACT [MONDO:patterns/location] synonym: "Trigeminal Neuralgia" EXACT [] synonym: "Trigeminal neuralgia" EXACT [] synonym: "trigeminal neuralgia" EXACT [DOID:12098, ICD9CM:350.1, OMIM:190400] synonym: "trigeminal neuralgia" EXACT [] {comment="preferred label from MONDO"} synonym: "Trigeminal neuralgia (disorder)" EXACT [] synonym: "Trigeminal neuralgia [no drugs here] (disorder)" EXACT [] synonym: "Trigeminal neuralgia NOS (disorder)" EXACT [] xref: DOID:12098 {source="MONDO:equivalentTo", source="EFO:1001219"} xref: ICD10:G50.0 xref: ICD10CM:G50.0 {source="MONDO:equivalentTo", source="DOID:12098", source="Orphanet:221091", source="EFO:1001219", source="Orphanet:221091/e"} xref: ICD9:350.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12098"} xref: MedDRA:10044652 {source="Orphanet:221091", source="EFO:1001219", source="Orphanet:221091/e"} xref: MESH:D014277 {source="MONDO:equivalentTo", source="DOID:12098", source="Orphanet:221091", source="EFO:1001219", source="Orphanet:221091/e"} xref: MeSH:D014277 xref: MONDO:0008599 xref: OMIM:190400 {source="MONDO:equivalentTo", source="DOID:12098", source="Orphanet:221091", source="EFO:1001219", source="Orphanet:221091/e"} xref: Orphanet:221091 {source="OMIM:190400", source="MONDO:equivalentTo"} xref: SCTID:31681005 {source="MONDO:equivalentTo", source="DOID:12098", source="EFO:1001219"} xref: SNOMEDCT:31681005 xref: UMLS:C0040997 {source="OMIM:190400", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:12098", source="Orphanet:221091", source="Orphanet:221091/e"} is_a: EFO:0009386 {source="ISBN-13:978-1259644030"} ! central nervous system disease is_a: EFO:0009569 {source="DOID:12098", source="MESH:D014277", source="MONDO:Redundant"} ! trigeminal nerve disease is_a: MONDO:0016374 {source="MONDO:Redundant", source="Orphanet:221091"} ! cranial neuralgia property_value: closeMatch http://identifiers.org/meddra/10044652 property_value: exactMatch DOID:12098 property_value: exactMatch http://identifiers.org/mesh/D014277 property_value: exactMatch http://identifiers.org/snomedct/31681005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040997 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G50.0 property_value: exactMatch https://omim.org/entry/190400 property_value: exactMatch Orphanet:221091 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7805/trigeminal-neuralgia xsd:anyURI {source="GARD:0007805"} [Term] id: EFO:1001220 name: trochlear nerve disease def: "A disease involving the trochlear nerve." [https://orcid.org/0000-0002-6601-2165] def: "Diseases of the fourth cranial (trochlear) nerve or its nucleus in the midbrain. The nerve crosses as it exits the midbrain dorsally and may be injured along its course through the intracranial space, cavernous sinus, superior orbital fissure, or orbit. Clinical manifestations include weakness of the superior oblique muscle which causes vertical DIPLOPIA that is maximal when the affected eye is adducted and directed inferiorly. Head tilt may be seen as a compensatory mechanism for diplopia and rotation of the visual axis. Common etiologies include CRANIOCEREBRAL TRAUMA and INFRATENTORIAL NEOPLASMS." [] synonym: "disease of trochlear nerve" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of trochlear nerve" EXACT [] synonym: "disorder of trochlear nerve" EXACT [DOID:13864, MONDO:patterns/location_top] synonym: "IVth cranial nerve disorder" EXACT [NCIT:C78395] synonym: "IVth nerve disorder" EXACT [NCIT:C78395] synonym: "Superior oblique muscle innervation disorder" EXACT [] synonym: "superior oblique muscle innervation disorder" EXACT [DOID:13864] synonym: "trochlear nerve disease" EXACT [MONDO:patterns/location] synonym: "trochlear nerve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "Trochlear Nerve Diseases" EXACT [] synonym: "trochlear nerve disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "trochlear nerve disorder" EXACT [NCIT:C78395] synonym: "Trochlear nerve disorder, NOS" EXACT [] xref: DOID:13864 {source="EFO:1001220", source="MONDO:equivalentTo"} xref: ICD9:378.53 {source="MONDO:relatedTo", source="DOID:13864"} xref: MedDRA:10074765 {source="EFO:1001220"} xref: MESH:D020432 {source="EFO:1001220", source="MONDO:equivalentTo", source="DOID:13864"} xref: MeSH:D020432 xref: MONDO:0007002 xref: NCIT:C78395 {source="MONDO:equivalentTo", source="DOID:13864"} xref: SCTID:20610004 {source="MONDO:relatedTo", source="DOID:13864"} is_a: EFO:0004149 ! neuropathy is_a: EFO:0009387 ! peripheral nervous system disease is_a: MONDO:0003569 {source="DOID:13864", source="MESH:D020432", source="MONDO:Redundant", source="NCIT:C78395"} ! cranial nerve neuropathy property_value: closeMatch http://identifiers.org/meddra/10074765 property_value: exactMatch DOID:13864 property_value: exactMatch http://identifiers.org/mesh/D020432 property_value: exactMatch NCIT:C78395 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001221 name: twin-to-twin transfusion syndrome def: "Passage of blood from one fetus to another via an arteriovenous communication or other shunt, in a monozygotic twin pregnancy. It results in anemia in one twin and polycythemia in the other. (Lee et al., Wintrobe's Clinical Hematology, 9th ed, p737-8)" [] def: "Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated" [Orphanet:95431] subset: ordo_disease {source="Orphanet:95431"} synonym: "Fetal blood loss from fetal hemorrhage into co-twin" EXACT [] synonym: "fetal blood loss from fetal hemorrhage into co-twin" EXACT [DOID:13576] synonym: "fetal hemorrhage into co-twin" EXACT [DOID:13576] synonym: "Fetal hemorrhage into co-twin (disorder)" EXACT [] synonym: "fetal transfusion syndrome" RELATED [GARD:0000325] synonym: "Feto-fetal transfusion syndrome" EXACT [Orphanet:95431] synonym: "Fetofetal Transfusion" EXACT [] synonym: "Fetofetal transfusion syndrome" RELATED [GARD:0000325] synonym: "foetal blood loss from foetal haemorrhage into co-twin" EXACT OMO:0003005 [] synonym: "foetal haemorrhage into co-twin" EXACT OMO:0003005 [] synonym: "foetal transfusion syndrome" RELATED OMO:0003005 [] synonym: "placental transfusion syndrome" EXACT [NCIT:C113824] synonym: "stuck Twin syndrome" EXACT [NCIT:C113824] synonym: "TTTS" RELATED ABBREVIATION [GARD:0000325] synonym: "Twin to twin transfusion" EXACT [DOID:13576] synonym: "twin to twin transfusion syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Twin-to-twin blood transfer" EXACT [DOID:13576] synonym: "Twin-to-twin blood transfer (disorder)" EXACT [] synonym: "twin-to-twin transfusion syndrome" EXACT [MONDO:0007003] synonym: "Twin-Twin transfusion syndrome" EXACT [NCIT:C113824] xref: DOID:13576 {source="EFO:1001221", source="MONDO:equivalentTo"} xref: MedDRA:10058328 {source="Orphanet:95431", source="Orphanet:95431/e"} xref: MESH:D005330 {source="EFO:1001221", source="MONDO:equivalentTo", source="DOID:13576"} xref: MeSH:D005330 xref: MONDO:0019805 xref: NCIT:C113824 {source="MONDO:equivalentTo", source="DOID:13576"} xref: Orphanet:95431 {source="MONDO:equivalentTo"} xref: SCTID:13404009 {source="MONDO:equivalentTo", source="DOID:13576"} xref: UMLS:CN206761 {source="MONDO:equivalentTo"} is_a: EFO:0000540 {source="Orphanet:95431"} ! immune system disease is_a: MONDO:0001240 {source="DOID:13576", source="MESH:D005330"} ! neonatal anemia property_value: closeMatch http://identifiers.org/meddra/10058328 property_value: exactMatch DOID:13576 property_value: exactMatch http://identifiers.org/mesh/D005330 property_value: exactMatch http://identifiers.org/snomedct/13404009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206761 property_value: exactMatch NCIT:C113824 property_value: exactMatch Orphanet:95431 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001222 name: type III hypersensitivity reaction disease def: "Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides SERUM SICKNESS and the ARTHUS REACTION, evidence supports a pathogenic role for immune complexes in many other IMMUNE SYSTEM DISEASES including GLOMERULONEPHRITIS, systemic lupus erythematosus (LUPUS ERYTHEMATOSUS, SYSTEMIC) and POLYARTERITIS NODOSA." [] def: "Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides serum sickness and the arthus reaction, evidence supports a pathogenic role for immune complexes in many other immune system diseases including glomerulonephritis, systemic lupus erythematosus (lupus erythematosus, systemic) and polyarteritis nodosa." [MESH:D007105] synonym: "disorder of type III hypersensitivity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "hypersensitivity reaction type III disease" EXACT [] synonym: "hypersensitivity reaction type III disease" RELATED [DOID:1557] synonym: "immune complex disease" EXACT [DOID:1557] synonym: "Immune Complex Diseases" EXACT [] synonym: "type 3 hypersensitivity reaction" EXACT [NCIT:C114346] synonym: "type III hypersensitivity" EXACT [NCIT:C114346] synonym: "type III hypersensitivity disease" EXACT [] {comment="preferred label from MONDO"} synonym: "type III hypersensitivity reaction" EXACT [NCIT:C114346] xref: DOID:1557 {source="EFO:1001222", source="MONDO:equivalentTo"} xref: MedDRA:10045265 {source="EFO:1001222"} xref: MESH:D007105 {source="EFO:1001222", source="MONDO:equivalentTo", source="DOID:1557"} xref: MeSH:D007105 xref: MONDO:0007004 xref: NCIT:C114346 {source="MONDO:equivalentTo"} xref: UMLS:C0020951 {source="MONDO:equivalentTo", source="DOID:1557", source="NCIT:C114346"} is_a: EFO:0005809 ! type II hypersensitivity reaction disease is_a: EFO:1002003 {source="DOID:1557", source="EFO:1001222", source="MONDO:Entailed", source="NCIT:C114346"} ! hypersensitivity reaction disease property_value: closeMatch http://identifiers.org/meddra/10045265 property_value: exactMatch DOID:1557 property_value: exactMatch http://identifiers.org/mesh/D007105 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020951 property_value: exactMatch NCIT:C114346 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001223 name: ulcerative proctosigmoiditis def: "Inflammation of the RECTUM and the distal portion of the COLON." [] def: "Inflammation of the rectum and the distal portion of the colon." [MESH:D011350] synonym: "chronic ulcerative rectosigmoiditis (disorder)" EXACT [] synonym: "Proctocolitis" EXACT [] synonym: "proctosigmoiditis" EXACT [] synonym: "Proctosigmoiditis (disorder)" EXACT [] synonym: "ulcerative (chronic) proctosigmoiditis" EXACT [] synonym: "ulcerative proctosigmoiditis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:8775 xref: ICD9:556.3 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MeSH:D011350 xref: MONDO:0007005 xref: SCTID:52506002 {source="MONDO:equivalentTo"} is_a: EFO:0003767 {source="EFO:1001223"} ! inflammatory bowel disease property_value: exactMatch http://identifiers.org/snomedct/52506002 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001224 name: ulnar neuropathy def: "Disease involving the ULNAR NERVE from its origin in the BRACHIAL PLEXUS to its termination in the hand. Clinical manifestations may include PARESIS or PARALYSIS of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the AXILLA, cubital tunnel at the ELBOW, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5)" [] def: "Disease involving the ulnar nerve from its origin in the brachial plexus to its termination in the hand. Clinical manifestations may include paresis or paralysis of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the axilla, cubital tunnel at the elbow, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5)" [MESH:D020424] synonym: "mononeuropathy of ulnar nerve" EXACT [MONDO:design_pattern] synonym: "ulnar nerve mononeuropathy" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "Ulnar Neuropathies" EXACT [] synonym: "Ulnar neuropathy" EXACT [] synonym: "ulnar neuropathy" EXACT [] {comment="preferred label from MONDO"} synonym: "ulnar neuropathy" EXACT [DOID:4613] synonym: "Ulnar neuropathy (disorder)" EXACT [] synonym: "Ulnar neuropathy (disorder) [Ambiguous]" EXACT [] synonym: "ulnar neuropathy (disorder) [ambiguous]" EXACT [DOID:4613] xref: DOID:4613 {source="EFO:1001224", source="MONDO:equivalentTo"} xref: MESH:D020424 {source="DOID:4613", source="EFO:1001224", source="MONDO:equivalentTo"} xref: MeSH:D020424 xref: MONDO:0007006 xref: SCTID:359837005 {source="DOID:4613", source="EFO:1001224", source="MONDO:equivalentTo"} xref: SNOMEDCT:359837005 xref: UMLS:C0154743 {source="DOID:4613", source="MONDO:equivalentTo"} is_a: EFO:0009558 {source="DOID:4613", source="MESH:D020424", source="MONDO:Redundant"} ! mononeuropathy is_a: EFO:1000844 ! brachial plexus neuropathy property_value: exactMatch DOID:4613 property_value: exactMatch http://identifiers.org/mesh/D020424 property_value: exactMatch http://identifiers.org/snomedct/359837005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154743 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001225 name: Ureaplasma urealyticum urethritis def: "Infections with bacteria of the genus UREAPLASMA." [] def: "Infections with bacteria of the genus ureaplasma." [MESH:D016869] synonym: "infection, Ureaplasma" RELATED [MESH:D016869] synonym: "infections, Ureaplasma" RELATED [MESH:D016869] synonym: "Ureaplasma caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Ureaplasma disease or disorder" EXACT [] synonym: "Ureaplasma infection" RELATED [MESH:D016869] synonym: "Ureaplasma Infections" EXACT [] synonym: "Ureaplasma infectious disease" EXACT [] synonym: "Ureaplasma urethritis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:3100 xref: MESH:D016869 {source="MONDO:equivalentTo", source="EFO:1001225"} xref: MeSH:D016869 xref: MONDO:0007007 xref: SCTID:51105006 {source="MONDO:equivalentTo", source="EFO:1001225"} xref: SNOMEDCT:51105006 is_a: EFO:0003878 {source="MONDO:cjm"} ! urethritis property_value: exactMatch http://identifiers.org/mesh/D016869 property_value: exactMatch http://identifiers.org/snomedct/51105006 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001226 name: uremia def: "A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of RENAL INSUFFICIENCY. Most uremic toxins are end products of protein or nitrogen CATABOLISM, such as UREA or CREATININE. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms." [] def: "A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of renal insufficiency. Most uremic toxins are end products of protein or nitrogen catabolism, such as urea or creatinine. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms." [MESH:D014511] synonym: "Uremia" EXACT [] synonym: "uremia" EXACT [] {comment="preferred label from MONDO"} synonym: "UREMIA OF renal ORIGIN" EXACT [] synonym: "uremia of renal origin" EXACT [DOID:4676, MTH:NOCODE] xref: DOID:4676 {source="MONDO:equivalentTo", source="EFO:1001226"} xref: MedDRA:10046369 {source="EFO:1001226"} xref: MESH:D014511 {source="DOID:4676", source="MONDO:equivalentTo", source="EFO:1001226"} xref: MeSH:D014511 xref: MONDO:0007008 xref: SCTID:44730006 {source="DOID:4676", source="MONDO:equivalentTo", source="EFO:1001226"} xref: SNOMEDCT:44730006 xref: UMLS:C0041948 {source="DOID:4676", source="MONDO:equivalentTo"} is_a: EFO:1002048 {source="DOID:4676"} ! kidney failure property_value: closeMatch http://identifiers.org/meddra/10046369 property_value: exactMatch DOID:4676 property_value: exactMatch http://identifiers.org/mesh/D014511 property_value: exactMatch http://identifiers.org/snomedct/44730006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041948 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001227 name: ureterocele def: "A cystic and dysplastic dilation of the distal ureter within the bladder that may extend into the bladder neck and urethra." [NCIT:P378] def: "A cystic dilatation of the end of a URETER as it enters into the URINARY BLADDER. It is characterized by the ballooning of the ureteral orifice into the lumen of the bladder and may obstruct urine flow." [] synonym: "Ureterocele" EXACT [] synonym: "ureterocele" EXACT [] {comment="preferred label from MONDO"} synonym: "ureterocele" EXACT [MONDO:ambiguous, OMIM:191650] synonym: "ureterocele (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:4022 {source="MONDO:equivalentTo", source="EFO:1001227"} xref: HP:0000070 {source="MONDO:otherHierarchy"} xref: ICD9:593.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10056433 {source="EFO:1001227"} xref: MESH:D014518 {source="MONDO:equivalentTo", source="EFO:1001227", source="DOID:4022"} xref: MeSH:D014518 xref: MONDO:0008628 xref: NCIT:C123159 {source="MONDO:equivalentTo", source="DOID:4022"} xref: OMIM:191650 {source="MONDO:equivalentTo", source="DOID:4022"} xref: SCTID:12818004 {source="MONDO:equivalentTo", source="EFO:1001227", source="DOID:4022"} xref: SNOMEDCT:12818004 is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: EFO:1000018 {source="EFO:1001227"} ! bladder disease is_a: MONDO:0001926 {source="DOID:4022", source="MESH:D014518", source="NCIT:C123159/inferred"} ! ureteral disorder is_a: MONDO:0100191 ! inherited kidney disorder property_value: closeMatch http://identifiers.org/meddra/10056433 property_value: exactMatch DOID:4022 property_value: exactMatch http://identifiers.org/mesh/D014518 property_value: exactMatch http://identifiers.org/snomedct/12818004 property_value: exactMatch https://omim.org/entry/191650 property_value: exactMatch NCIT:C123159 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000589 "ureterocele (disease)" xsd:string [Term] id: EFO:1001228 name: ureterolithiasis def: "Formation of stones in the URETER." [] def: "The presence of a calculus in the ureter of the kidney; this is most often composed of mineral salts and proteins." [NCIT:P378] synonym: "calculus of ureter" EXACT [DOID:14146, ICD9CM:592.1] synonym: "Ureteric calculus" EXACT [] synonym: "ureteric calculus" EXACT [DOID:14146] synonym: "Ureteric Stone" EXACT [] synonym: "Ureteric stone" EXACT [] synonym: "ureteric stone" EXACT [DOID:14146] synonym: "Ureteric stone (disorder)" EXACT [] synonym: "Ureterolithiasis" EXACT [] synonym: "ureterolithiasis" EXACT [] {comment="preferred label from MONDO"} synonym: "Ureterolithiasis (disorder)" EXACT [] xref: DOID:14146 {source="MONDO:equivalentTo", source="EFO:1001228"} xref: ICD10:N21 xref: ICD9:592.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14146"} xref: MedDRA:10077989 xref: MESH:D053039 {source="MONDO:equivalentTo", source="DOID:14146", source="EFO:1001228"} xref: MeSH:D053039 xref: MONDO:0007009 xref: NCIT:C114696 {source="MONDO:equivalentTo", source="DOID:14146", source="EFO:1001228"} xref: NCIt:C114696 xref: SCTID:31054009 {source="MONDO:equivalentTo", source="DOID:14146", source="EFO:1001228"} xref: SNOMEDCT:31054009 xref: UMLS:C0041952 {source="MONDO:equivalentTo", source="NCIT:C114696", source="DOID:14146"} is_a: EFO:0003086 ! kidney disease is_a: EFO:1000018 {source="EFO:1001228"} ! bladder disease is_a: MONDO:0001926 {source="DOID:14146", source="MESH:D053039", source="NCIT:C114696/inferred"} ! ureteral disorder property_value: exactMatch DOID:14146 property_value: exactMatch http://identifiers.org/mesh/D053039 property_value: exactMatch http://identifiers.org/snomedct/31054009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041952 property_value: exactMatch NCIT:C114696 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001229 name: maculopapular cutaneous mastocytosis def: "Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin." [Orphanet:79457] subset: ordo_disease {source="Orphanet:79457"} synonym: "maculopapular cutaneous mastocytosis" EXACT [] {comment="preferred label from MONDO"} synonym: "maculopapular cutaneous mastocytosis" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "Paucicellular mastocytosis" RELATED [GARD:0013079] synonym: "telangiectasia macularis eruptive perstans" RELATED [GARD:0013079] synonym: "telangiectatic cutaneous mastocytosis" RELATED [GARD:0013079] synonym: "UP/MPCM" EXACT [DOID:12309, NCIT:C3433] synonym: "urticaria pigmentosa" EXACT [MONDO:0001489, Orphanet:79457] synonym: "urticaria pigmentosa/maculopapular cutaneous mastocytosis" EXACT [NCIT:C3433] xref: DOID:12309 {source="MONDO:equivalentTo"} xref: GARD:0013079 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10:Q82.2 {source="MONDO:subClassOf", source="Orphanet:79457", source="DOID:12309", source="ORDO:79457/ntbt"} xref: ICD9:708.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:708.8 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9740/1 {source="NCIT:C3433"} xref: MedDRA:10046752 {source="Orphanet:79457", source="Orphanet:79457/e"} xref: MedDRA:10046752 {source="Orphanet:79457", source="ORDO:79457/e"} xref: MONDO:0019316 xref: NCIT:C3433 {source="MONDO:equivalentTo", source="DOID:12309"} xref: OMIM:154800 xref: Orphanet:79457 {source="MONDO:equivalentTo"} xref: SCTID:78745000 {source="MONDO:equivalentTo", source="DOID:12309"} xref: UMLS:C0042111 {source="Orphanet:79457", source="MONDO:equivalentTo", source="DOID:12309", source="Orphanet:79457/e", source="NCIT:C3433"} xref: UMLS:C0042111 {source="Orphanet:79457", source="MONDO:equivalentTo", source="DOID:12309", source="NCIT:C3433", source="ORDO:79457/e"} is_a: EFO:1000886 {source="DOID:12309", source="NCIT:C3433/inferred", source="Orphanet:79457"} ! cutaneous mastocytosis property_value: closeMatch http://identifiers.org/meddra/10046752 property_value: closeMatch http://identifiers.org/snomedct/205566001 property_value: closeMatch http://identifiers.org/snomedct/703828003 property_value: exactMatch DOID:12309 property_value: exactMatch DOID:12309 property_value: exactMatch http://identifiers.org/meddra/10046752 property_value: exactMatch http://identifiers.org/mesh/D014582 property_value: exactMatch http://identifiers.org/snomedct/78745000 property_value: exactMatch http://identifiers.org/snomedct/78745000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042111 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042111 property_value: exactMatch NCIT:C3433 property_value: exactMatch NCIT:C3433 property_value: exactMatch Orphanet:79457 [Term] id: EFO:1001230 name: uveal cancer def: "A primary or metastatic malignant neoplasm that affects the choroid, ciliary body, or iris." [NCIT:P378] def: "Tumors or cancer of the UVEA." [] synonym: "cancer of uvea" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the uvea" EXACT [NCIT:C6105] synonym: "malignant neoplasm of uvea" EXACT [MONDO:patterns/cancer, NCIT:C6105] synonym: "malignant tumor of the uvea" EXACT [NCIT:C6105] synonym: "malignant tumor of uvea" EXACT [NCIT:C6105] synonym: "malignant tumour of the uvea" EXACT OMO:0003005 [] synonym: "malignant tumour of uvea" EXACT OMO:0003005 [] synonym: "malignant uvea neoplasm" EXACT [DOID:3479, MONDO:patterns/cancer, NCIT:C6105] synonym: "malignant uvea tumor" EXACT [NCIT:C6105] synonym: "malignant uvea tumour" EXACT OMO:0003005 [] synonym: "malignant uveal neoplasm" EXACT [NCIT:C6105] synonym: "malignant Uveal tumor" EXACT [] synonym: "malignant uveal tumor" EXACT [DOID:3479, NCIT:C6105] synonym: "malignant uveal tumour" EXACT OMO:0003005 [] synonym: "uvea cancer" EXACT [MONDO:patterns/location] synonym: "uveal cancer" EXACT [] {comment="preferred label from MONDO"} synonym: "Uveal Neoplasms" EXACT [] synonym: "Uveal tumor" EXACT [] synonym: "uveal tumor" BROAD [DOID:3479, NCIT:C3436] synonym: "uveal tumour" BROAD OMO:0003005 [] xref: DOID:3479 {source="MONDO:equivalentTo"} xref: MeSH:D014604 xref: MONDO:0002659 xref: NCIT:C6105 {source="MONDO:equivalentTo", source="DOID:3479"} xref: UMLS:C1334629 {source="MONDO:equivalentTo", source="DOID:3479", source="NCIT:C6105"} is_a: MONDO:0002236 {source="DOID:3479", source="MONDO:Redundant", source="NCIT:C6105"} ! ocular cancer is_a: MONDO:0021225 {source="MONDO:Redundant", source="NCIT:C6105"} ! uvea neoplasm property_value: exactMatch DOID:3479 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334629 property_value: exactMatch NCIT:C6105 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001231 name: uveitis def: "An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision." [NCIT:C26909] def: "inflammation of one or all portions of the uveal tract" [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98715"} synonym: "inflammation of uvea" EXACT [] synonym: "uvea inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "uveitis" EXACT [MONDO:ambiguous] synonym: "uveitis" EXACT [] {comment="preferred label from MONDO"} synonym: "uveitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:13141 {source="EFO:1001231", source="MONDO:equivalentTo"} xref: HP:0000554 {source="MONDO:otherHierarchy"} xref: MedDRA:10046851 {source="EFO:1001231", source="Orphanet:98715", source="Orphanet:98715/e"} xref: MESH:D014605 {source="EFO:1001231", source="DOID:13141", source="MONDO:equivalentTo", source="Orphanet:98715", source="Orphanet:98715/e"} xref: MeSH:D014605 xref: MONDO:0020283 xref: NCIT:C26909 {source="EFO:1001231", source="DOID:13141", source="MONDO:equivalentTo"} xref: NCIt:C26909 xref: Orphanet:98715 {source="MONDO:equivalentTo"} xref: SCTID:128473001 {source="EFO:1001231", source="DOID:13141", source="MONDO:equivalentTo"} xref: SNOMEDCT:128473001 xref: UMLS:C0042164 {source="NCIT:C26909", source="DOID:13141", source="MONDO:equivalentTo", source="Orphanet:98715", source="Orphanet:98715/e"} is_a: EFO:0009903 {source="MONDO:Redundant"} ! inflammatory disease is_a: MONDO:0002661 {source="DOID:13141", source="MESH:D014605", source="MONDO:Redundant", source="NCIT:C26909/inferred"} ! uveal disorder property_value: closeMatch http://identifiers.org/meddra/10046851 property_value: exactMatch DOID:13141 property_value: exactMatch http://identifiers.org/mesh/D014605 property_value: exactMatch http://identifiers.org/snomedct/128473001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042164 property_value: exactMatch NCIT:C26909 property_value: exactMatch Orphanet:98715 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000589 "uveitis (disease)" xsd:string [Term] id: EFO:1001232 name: uveoparotid fever def: "A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea." [MESH:D014608] synonym: "Heerfordt's syndrome" EXACT [DOID:13404] synonym: "Heerfordt's syndrome (disorder)" EXACT [] synonym: "Uveoparotid Fever" EXACT [] synonym: "Uveoparotid fever" EXACT [] synonym: "uveoparotid fever" EXACT [DOID:13404] synonym: "uveoparotid fever" EXACT [] {comment="preferred label from MONDO"} xref: DOID:13404 {source="EFO:1001232", source="MONDO:equivalentTo"} xref: MedDRA:10076647 xref: MESH:D014608 {source="DOID:13404", source="EFO:1001232", source="MONDO:equivalentTo"} xref: MeSH:D014608 xref: MONDO:0007011 xref: SCTID:31541009 {source="DOID:13404", source="MONDO:directSiblingOf"} xref: SCTID:4416007 {source="DOID:13404", source="EFO:1001232", source="MONDO:equivalentTo"} xref: SNOMEDCT:4416007 xref: UMLS:C0042171 {source="DOID:13404", source="MONDO:equivalentTo"} is_a: EFO:0003818 ! lung disease is_a: MONDO:0019338 {source="DOID:13404", source="EFO:1001232", source="MESH:D014608"} ! sarcoidosis relationship: EFO:0000784 UBERON:0002048 ! has_disease_location lung property_value: exactMatch DOID:13404 property_value: exactMatch http://identifiers.org/mesh/D014608 property_value: exactMatch http://identifiers.org/snomedct/4416007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042171 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001233 name: variant Creutzfeldt-Jakob disease def: "A form of Creutzfeldt-Jakob disease that is most commonly contracted after consuming meat from an animal suffering from bovine spongiform encephalopathy." [NCIT:C128438] def: "Variant Creutzfeldt-Jakob disease (vCJD) is a rare and fatal human neurodegenerative condition, most commonly contracted after consuming meat from an animal suffering from bovine spongiform encephalopathy. vCJD is classified as a Transmissible Spongiform Encephalopathy (TSE) because of its ability to be transmitted and the characteristic spongy degeneration of the brain that it causes. It was first described in the United Kingdom in March 1996 and has been linked with exposure to a TSE of cattle called Bovine Spongiform Encephalopathy (BSE), also known as Classical BSE1, which was first reported in the United Kingdom in 1986." [] subset: ordo_disease synonym: "variant Creutzfeldt Jakob disease" EXACT [] synonym: "variant Creutzfeldt-Jakob disease" EXACT [] {comment="preferred label from MONDO"} synonym: "vCJD" EXACT [NCIT:C128438] xref: DOID:5435 {source="EFO:1001233", source="MONDO:equivalentTo"} xref: ICD10CM:A81.01 {source="EFO:1001233", source="MONDO:equivalentTo"} xref: ICD9:046.11 {source="EFO:1001233", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10064199 {source="EFO:1001233"} xref: MESH:D016643 {source="EFO:1001233", source="DOID:5435", source="MONDO:directSiblingOf"} xref: MeSH:D016643 xref: MONDO:0007012 xref: NCIT:C128438 {source="MONDO:equivalentTo"} xref: NCIT:C26802 {source="EFO:1001233", source="MONDO:directSiblingOf"} xref: NCIt:C26802 xref: Orphanet:576370 {source="MONDO:equivalentTo"} xref: SCTID:304603007 {source="EFO:1001233", source="MONDO:equivalentTo"} xref: SNOMEDCT:304603007 xref: UMLS:C0085209 {source="DOID:5435", source="MONDO:equivalentTo"} is_a: MONDO:0018686 {source="Orphanet:576370"} ! acquired Creutzfeldt-Jakob disease relationship: EFO:0000784 UBERON:0001016 ! has_disease_location nervous system property_value: closeMatch http://identifiers.org/meddra/10064199 property_value: definition:citation "D007562" xsd:string property_value: definition:citation http://www.who.int/mediacentre/factsheets/fs180/en/ xsd:string property_value: exactMatch DOID:5435 property_value: exactMatch http://identifiers.org/snomedct/304603007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085209 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A81.01 property_value: exactMatch NCIT:C128438 property_value: exactMatch Orphanet:576370 property_value: excluded_subClassOf MONDO:0005429 {source="DOID:5435", source="EFO:1001233"} property_value: IAO:0000116 "Note that Mondo obsoleted MONDO:0005409 variant Creutzfeld Jacob disease (EFO_0004597) in favor of MONDO:0007012 (see https://github.com/monarch-initiative/mondo/issues/847). EFO was edited to reflect the change in Mondo and address the same duplication in EFO." xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001234 name: vasculogenic impotence def: "Inability to achieve and maintain an erection (ERECTILE DYSFUNCTION) due to defects in the arterial blood flow to the PENIS, defect in venous occlusive function allowing blood drainage (leakage) from the erectile tissue (corpus cavernosum penis), or both." [] def: "Inability to achieve and maintain an erection (erectile dysfunction) due to defects in the arterial blood flow to the penis, defect in venous occlusive function allowing blood drainage (leakage) from the erectile tissue (corpus cavernosum penis), or both." [MESH:D018783] synonym: "Impotence, Vasculogenic" EXACT [] synonym: "vasculogenic impotence" EXACT [] {comment="preferred label from MONDO"} xref: DOID:4762 {source="MONDO:equivalentTo", source="EFO:1001234"} xref: MESH:D018783 {source="DOID:4762", source="MONDO:equivalentTo", source="EFO:1001234"} xref: MeSH:D018783 xref: MONDO:0007013 xref: UMLS:C0243000 {source="DOID:4762", source="MONDO:equivalentTo"} is_a: EFO:0004234 {source="DOID:4762", source="EFO:1001234", source="MESH:D018783"} ! erectile dysfunction property_value: exactMatch DOID:4762 property_value: exactMatch http://identifiers.org/mesh/D018783 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0243000 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001235 name: Vibrio infectious disease def: "Infections with bacteria of the genus VIBRIO." [] def: "Infections with bacteria of the genus vibrio." [MESH:D014735] synonym: "cholera" EXACT [] synonym: "Infection due to non-cholerae vibrio" EXACT [] synonym: "Vibrio caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Vibrio disease or disorder" EXACT [] synonym: "Vibrio Infections" EXACT [] synonym: "Vibrio infectious disease" EXACT [] synonym: "vibrio infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "vibriosis" EXACT [] xref: DOID:1499 xref: MESH:D014735 {source="EFO:1001235", source="MONDO:equivalentTo"} xref: MeSH:D014735 xref: MONDO:0007014 xref: UMLS:C0042636 {source="MONDO:equivalentTo"} is_a: EFO:0000771 {source="EFO:1001235", source="MESH:D014735/inferred", source="MONDO:Redundant"} ! bacterial disease property_value: exactMatch http://identifiers.org/mesh/D014735 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042636 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001236 name: viral meningitis def: "Inflammation of the membranes surrounding the brain and spinal cord due to a viral infection." [NCIT:P378] def: "Viral infections of the leptomeninges and subarachnoid space. TOGAVIRIDAE INFECTIONS; FLAVIVIRIDAE INFECTIONS; RUBELLA; BUNYAVIRIDAE INFECTIONS; ORBIVIRUS infections; PICORNAVIRIDAE INFECTIONS; ORTHOMYXOVIRIDAE INFECTIONS; RHABDOVIRIDAE INFECTIONS; ARENAVIRIDAE INFECTIONS; HERPESVIRIDAE INFECTIONS; ADENOVIRIDAE INFECTIONS; JC VIRUS infections; and RETROVIRIDAE INFECTIONS may cause this form of meningitis. Clinical manifestations include fever, headache, neck pain, vomiting, PHOTOPHOBIA, and signs of meningeal irritation. (From Joynt, Clinical Neurology, 1996, Ch26, pp1-3)" [] synonym: "Meningitis, Viral" EXACT [] synonym: "viral meningitis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:10310 {source="MONDO:equivalentTo", source="EFO:1001236"} xref: ICD10:A87 xref: ICD10CM:A87 {source="MONDO:equivalentTo", source="EFO:1001236", source="DOID:10310"} xref: ICD9:047.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:047.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10310"} xref: ICD9:321.2 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10047469 {source="EFO:1001236"} xref: MESH:D008587 {source="MONDO:equivalentTo", source="EFO:1001236", source="DOID:10310"} xref: MeSH:D008587 xref: MONDO:0007015 xref: NCIT:C118298 {source="MONDO:equivalentTo", source="EFO:1001236", source="DOID:10310"} xref: NCIt:C118298 xref: SCTID:58170007 {source="MONDO:equivalentTo", source="EFO:1001236", source="DOID:10310"} xref: SNOMEDCT:58170007 xref: UMLS:C0025297 {source="NCIT:C118298", source="MONDO:equivalentTo", source="DOID:10310"} is_a: EFO:0000584 {source="DOID:10310", source="EFO:1001236", source="MESH:D008587", source="NCIT:C118298"} ! infectious meningitis is_a: EFO:1000823 ! aseptic meningitis property_value: closeMatch http://identifiers.org/meddra/10047469 property_value: exactMatch DOID:10310 property_value: exactMatch http://identifiers.org/mesh/D008587 property_value: exactMatch http://identifiers.org/snomedct/58170007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025297 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A87 property_value: exactMatch NCIT:C118298 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001237 name: vitamin A deficiency def: "A nutritional condition produced by a deficiency of VITAMIN A in the diet, characterized by NIGHT BLINDNESS and other ocular manifestations such as dryness of the conjunctiva and later of the cornea (XEROPHTHALMIA). Vitamin A deficiency is a very common problem worldwide, particularly in developing countries as a consequence of famine or shortages of vitamin A-rich foods. In the United States it is found among the urban poor, the elderly, alcoholics, and patients with malabsorption. (From Cecil Textbook of Medicine, 19th ed, p1179)" [] def: "Deficiency of vitamin A due to malnutrition, malabsorption, or dietary lack. It is manifested with reduced night vision, night blindness, and xerophthalmia." [NCIT:C85220] synonym: "deficiencies, vitamin A" RELATED [MESH:D014802] synonym: "deficiency, vitamin A" RELATED [MESH:D014802] synonym: "vitamin A deficiencies" RELATED [MESH:D014802] synonym: "Vitamin A Deficiency" EXACT [] synonym: "vitamin A deficiency" EXACT [MONDO:ambiguous, NCIT:C85220] synonym: "vitamin A deficiency" EXACT [] {comment="preferred label from MONDO"} synonym: "vitamin A deficiency (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:10257 xref: HP:0004905 {source="MONDO:otherHierarchy"} xref: ICD10:E50 xref: ICD9:264 {source="EFO:1001237"} xref: ICD9:264.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:264.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10047586 {source="EFO:1001237"} xref: MESH:D014802 {source="MONDO:equivalentTo", source="EFO:1001237"} xref: MeSH:D014802 xref: MONDO:0007016 xref: NCIT:C85220 {source="MONDO:equivalentTo", source="EFO:1001237"} xref: NCIt:C85220 xref: SCTID:72000004 {source="MONDO:equivalentTo", source="EFO:1001237"} xref: SNOMEDCT:72000004 xref: UMLS:C0042842 {source="MONDO:equivalentTo", source="NCIT:C85220"} is_a: MONDO:0024298 {source="MESH:D014802", source="NCIT:C85220"} ! vitamin deficiency disorder property_value: closeMatch http://identifiers.org/meddra/10047586 property_value: exactMatch http://identifiers.org/mesh/D014802 property_value: exactMatch http://identifiers.org/snomedct/72000004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042842 property_value: exactMatch NCIT:C85220 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000589 "vitamin A deficiency (disease)" xsd:string [Term] id: EFO:1001238 name: vitreous detachment def: "Detachment of the corpus vitreum (VITREOUS BODY) from its normal attachments, especially the retina, due to shrinkage from degenerative or inflammatory conditions, trauma, myopia, or senility." [] def: "Detachment of the vitreous humor from the retina." [NCIT:P378] synonym: "detachment Of vitreous" EXACT [NCIT:C50807] synonym: "Vitreous Detachment" EXACT [] synonym: "vitreous detachment" EXACT [] {comment="preferred label from MONDO"} synonym: "vitreous, detachment Of" EXACT [NCIT:C50807] xref: DOID:9726 {source="MONDO:equivalentTo", source="EFO:1001238"} xref: MedDRA:10047650 {source="EFO:1001238"} xref: MESH:D020255 {source="DOID:9726", source="MONDO:equivalentTo", source="EFO:1001238"} xref: MeSH:D020255 xref: MONDO:0007017 xref: NCIT:C50807 {source="DOID:9726", source="MONDO:equivalentTo", source="EFO:1001238"} xref: NCIt:C50807 xref: SCTID:53772007 {source="DOID:9726", source="MONDO:equivalentTo", source="EFO:1001238"} xref: SNOMEDCT:53772007 xref: UMLS:C0042907 {source="DOID:9726", source="MONDO:equivalentTo", source="NCIT:C50807"} is_a: MONDO:0004860 {source="DOID:9726"} ! vitreous disorder is_a: MONDO:0020246 {source="EFO:1001238"} ! inherited vitreoretinopathy is_a: Orphanet:98668 ! Vitreoretinopathy property_value: closeMatch http://identifiers.org/meddra/10047650 property_value: exactMatch DOID:9726 property_value: exactMatch http://identifiers.org/mesh/D020255 property_value: exactMatch http://identifiers.org/snomedct/53772007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042907 property_value: exactMatch NCIT:C50807 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001239 name: vulvitis def: "Inflammation of the VULVA. It is characterized by PRURITUS and painful urination." [] def: "Inflammation of the vulva. It is characterized by pruritus and painful urination." [MESH:D014847] synonym: "inflammation of mammalian vulva" EXACT [] synonym: "mammalian vulva inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "Vulvitis" EXACT [] synonym: "vulvitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Vulvitis (disorder)" EXACT [] synonym: "Vulvitis - non sp." EXACT [] synonym: "Vulvitis NOS" EXACT [] synonym: "Vulvitis unspecified" EXACT [] synonym: "Vulvitis unspecified (disorder)" EXACT [] xref: DOID:3901 {source="MONDO:equivalentTo", source="EFO:1001239"} xref: MedDRA:10047780 {source="EFO:1001239"} xref: MESH:D014847 {source="MONDO:equivalentTo", source="EFO:1001239", source="DOID:3901"} xref: MeSH:D014847 xref: MONDO:0007018 xref: SCTID:63144007 {source="MONDO:equivalentTo", source="EFO:1001239", source="DOID:3901"} xref: SNOMEDCT:63144007 xref: UMLS:C0042996 {source="MONDO:equivalentTo", source="DOID:3901"} is_a: EFO:0009903 {source="MONDO:Redundant"} ! inflammatory disease is_a: MONDO:0002187 {source="DOID:3901", source="MESH:D014847"} ! vulvar disease relationship: RO:0000056 GO:0006954 ! participates_in inflammatory response property_value: closeMatch http://identifiers.org/meddra/10047780 property_value: exactMatch DOID:3901 property_value: exactMatch http://identifiers.org/mesh/D014847 property_value: exactMatch http://identifiers.org/snomedct/63144007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042996 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001240 name: vulvovaginitis def: "An inflammatory pathologic process that affects the vulva and the vagina." [NCIT:P378] def: "Inflammation of the VULVA and the VAGINA, characterized by discharge, burning, and PRURITUS." [] synonym: "Vulvo-vaginitis" EXACT [DOID:2273] synonym: "Vulvovaginitis" EXACT [] synonym: "vulvovaginitis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:2273 {source="EFO:1001240", source="MONDO:equivalentTo"} xref: MedDRA:10047794 {source="EFO:1001240"} xref: MESH:D014848 {source="EFO:1001240", source="MONDO:equivalentTo", source="DOID:2273"} xref: MeSH:D014848 xref: MONDO:0007019 xref: NCIT:C35131 {source="EFO:1001240", source="MONDO:equivalentTo", source="DOID:2273"} xref: NCIt:C35131 xref: SCTID:53277000 {source="EFO:1001240", source="MONDO:equivalentTo", source="DOID:2273"} xref: SNOMEDCT:53277000 xref: UMLS:C0042998 {source="NCIT:C35131", source="MONDO:equivalentTo", source="DOID:2273"} is_a: EFO:1001239 {source="MESH:D014848", source="MONDO:Redundant"} ! vulvitis is_a: MONDO:0002234 ! vaginitis property_value: closeMatch http://identifiers.org/meddra/10047794 property_value: exactMatch DOID:2273 property_value: exactMatch http://identifiers.org/mesh/D014848 property_value: exactMatch http://identifiers.org/snomedct/53277000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042998 property_value: exactMatch NCIT:C35131 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001241 name: Wernicke encephalopathy def: "An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. THIAMINE DEFICIENCY and chronic ALCOHOLISM are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to KORSAKOFF SYNDROME. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3)" [] def: "An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. thiamine deficiency and chronic alcoholism are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to korsakoff syndrome. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3)" [MESH:D014899] synonym: "dementia due to thiamine deficiency" EXACT [Orphanet:97354] synonym: "Wernicke Encephalopathy" EXACT [] synonym: "Wernicke encephalopathy" EXACT [] {comment="preferred label from MONDO"} synonym: "Wernicke's disease" EXACT [DOID:2384] synonym: "Wernicke's disease (disorder)" EXACT [] synonym: "Wernicke's encephalopathy" EXACT [DOID:2384] xref: DOID:2384 {source="EFO:1001241", source="MONDO:equivalentTo"} xref: ICD10CM:E51.2 {source="DOID:2384", source="MONDO:equivalentTo"} xref: ICD9:265.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D014899 {source="DOID:2384", source="EFO:1001241", source="MONDO:equivalentTo"} xref: MeSH:D014899 xref: MONDO:0007020 xref: Orphanet:97354 {source="MONDO:equivalentObsolete"} xref: SCTID:21007002 {source="DOID:2384", source="MONDO:equivalentTo"} xref: UMLS:C0043121 {source="DOID:2384", source="MONDO:equivalentTo"} is_a: EFO:0005774 {source="DOID:2384", source="EFO:1001241", source="MESH:D014899/inferred"} ! brain disease is_a: MONDO:0021698 {source="MESH:D014899"} ! alcohol-related disorders property_value: exactMatch DOID:2384 property_value: exactMatch http://identifiers.org/mesh/D014899 property_value: exactMatch http://identifiers.org/snomedct/21007002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043121 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E51.2 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001242 name: Wernicke-Korsakoff syndrome def: "An acquired cognitive disorder characterized by inattentiveness and the inability to form short term memories. This disorder is frequently associated with chronic ALCOHOLISM; but it may also result from dietary deficiencies; CRANIOCEREBRAL TRAUMA; NEOPLASMS; CEREBROVASCULAR DISORDERS; ENCEPHALITIS; EPILEPSY; and other conditions. (Adams et al., Principles of Neurology, 6th ed, p1139)" [] def: "Wernicke-Korsakoff syndrome is a brain disorder, due to thiamine deficiency that has been associated with both Wernicke's encephalopathy and Korsakoff syndrome. The term refers to two different syndromes, each representing a different stage of the disease. Wernicke's encephalopathy represents the 'acute' phase and Korsakoff's syndrome represents the 'chronic' phase. However, they are used interchangeable in many sites. Wernicke's encephalopathy is characterized by confusion, abnormal stance and gait (ataxia), and abnormal eye movements (nystagmus). Korsakoff's syndrome is observed in a small number of patients. It is a type of dementia, characterized by memory loss and confabulation (filling in of memory gaps with data the patient can readily recall) and involvement of the heart, vascular, and nervous system. Wernicke-Korsakoff syndrome mainly results from chronic alcohol use, but also from dietary deficiencies, prolonged vomiting, eating disorders, systemic diseases (cancer, AIDS, infections), bariatric surgery, transplants, or the effects of chemotherapy. Studies indicate that there may be some genetic predisposition for the disease.Treatment involves supplementing the diet with thiamine. Wernicke encephalopathy is an acute syndrome and requires emergency treatment to prevent death and neurologic complications. In cases where the diagnosis is not confirmed, patients should still be treated while additional evaluations are completed." [https://rarediseases.info.nih.gov/diseases/6843/wernicke-korsakoff-syndrome] comment: Editor note: todo check subset: gard_rare {source="GARD:0006843"} synonym: "alcohol-induced encephalopathy" RELATED [OMIM:277730] synonym: "Korsakoff Syndrome" EXACT [] synonym: "Korsakoff syndrome" EXACT [DOID:10915] synonym: "Korsakoff's psychosis" EXACT [DOID:10915] synonym: "Korsakoff's psychosis (disorder)" EXACT [] synonym: "Korsakoff's syndrome" EXACT [DOID:10915] synonym: "Korsakov psychosis" EXACT [DOID:10915] synonym: "Korsakov's psychosis" EXACT [DOID:10915] synonym: "transketolase defect" RELATED [OMIM:277730] synonym: "Wernicke encephalopathy" RELATED [NCIT:C35764] synonym: "Wernicke-Korsakoff syndrome" EXACT [OMIM:277730] synonym: "Wernicke-Korsakoff syndrome" EXACT [] {comment="preferred label from MONDO"} xref: DOID:10915 {source="EFO:1001242", source="MONDO:equivalentTo"} xref: MedDRA:10047913 {source="EFO:1001242"} xref: MESH:C538669 {source="MONDO:equivalentTo"} xref: MeSH:D020915 xref: MONDO:0010198 xref: NCIT:C35764 {source="EFO:1001242", source="MONDO:equivalentTo", source="DOID:10915"} xref: NCIt:C35764 xref: OMIM:277730 {source="MONDO:equivalentTo", source="DOID:10915"} xref: SCTID:69482004 {source="EFO:1001242", source="MONDO:equivalentTo", source="DOID:10915"} xref: SNOMEDCT:69482004 is_a: EFO:1001067 {source="DOID:10915"} ! nutritional deficiency disease is_a: MONDO:0002254 {source="NCIT:C35764"} ! syndromic disease property_value: closeMatch http://identifiers.org/meddra/10047913 property_value: exactMatch DOID:10915 property_value: exactMatch http://identifiers.org/mesh/C538669 property_value: exactMatch http://identifiers.org/snomedct/69482004 property_value: exactMatch https://omim.org/entry/277730 property_value: exactMatch NCIT:C35764 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6843/wernicke-korsakoff-syndrome xsd:anyURI {source="GARD:0006843"} [Term] id: EFO:1001243 name: wheat allergic reaction def: "Allergic reaction to wheat that is triggered by the immune system." [] synonym: "wheat allergy" EXACT [] synonym: "Wheat Hypersensitivity" EXACT [] xref: DOID:3660 xref: MeSH:D021182 is_a: EFO:1001890 ! food allergy property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Gautier Koscielny" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001244 name: xanthogranulomatous pyelonephritis def: "A chronic inflammatory condition of the KIDNEY resulting in diffuse renal destruction, a grossly enlarged and nonfunctioning kidney associated with NEPHROLITHIASIS and KIDNEY STONES." [] def: "Chronic, destructive infection of the kidney characterized by lipid-laden macrophages in the setting of obstruction secondary to infected renal stones, most commonly caused by Proteus or Escherichia coli." [NCIT:P378] synonym: "Pyelonephritis, Xanthogranulomatous" EXACT [] synonym: "Xanthogranulomatous pyelonephritis" EXACT [] synonym: "xanthogranulomatous pyelonephritis" EXACT [DOID:11401] synonym: "xanthogranulomatous pyelonephritis" EXACT [] {comment="preferred label from MONDO"} synonym: "Xanthogranulomatous pyelonephritis (disorder)" EXACT [] xref: DOID:11401 {source="EFO:1001244", source="MONDO:equivalentTo"} xref: ICD9:582.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10074389 {source="EFO:1001244"} xref: MESH:D011705 {source="DOID:11401", source="EFO:1001244", source="MONDO:equivalentTo"} xref: MeSH:D011705 xref: MONDO:0007022 xref: NCIT:C123038 {source="DOID:11401", source="MONDO:equivalentTo"} xref: SCTID:38898003 {source="DOID:11401", source="EFO:1001244", source="MONDO:equivalentTo"} xref: SNOMEDCT:38898003 xref: UMLS:C0034188 {source="DOID:11401", source="MONDO:equivalentTo", source="NCIT:C123038"} is_a: MONDO:0001110 {source="DOID:11401"} ! chronic pyelonephritis property_value: closeMatch http://identifiers.org/meddra/10074389 property_value: exactMatch DOID:11401 property_value: exactMatch http://identifiers.org/mesh/D011705 property_value: exactMatch http://identifiers.org/snomedct/38898003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034188 property_value: exactMatch NCIT:C123038 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001245 name: Yersinia infectious disease def: "Infections with bacteria of the genus Yersinia." [] def: "Infections with bacteria of the genus yersinia." [MESH:D015009, Wikipedia:Yersiniosis] synonym: "infection, Yersinia" RELATED [MESH:D015009] synonym: "infections, Yersinia" RELATED [MESH:D015009] synonym: "infections, Yersinia " RELATED [MONDO:patterns/infectious_disease_by_agent] synonym: "Yersinia infection" EXACT [MONDO:patterns/infectious_disease_by_agent] synonym: "Yersinia infection" RELATED [MESH:D015009] synonym: "Yersinia Infections" EXACT [] synonym: "Yersinia infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "yersiniosis" EXACT [] synonym: "Yersiniosis (disorder)" EXACT [] synonym: "Yersiniosis [Ambiguous]" EXACT [] xref: DOID:3300 xref: MESH:D015009 {source="MONDO:equivalentTo", source="EFO:1001245"} xref: MeSH:D015009 xref: MONDO:0007023 xref: NCIT:C128337 {source="MONDO:equivalentTo"} xref: SCTID:83436008 {source="MONDO:equivalentTo"} is_a: EFO:0000771 {source="EFO:1001245", source="MESH:D015009/inferred", source="MONDO:Redundant", source="NCIT:C128337"} ! bacterial disease property_value: exactMatch http://identifiers.org/mesh/D015009 property_value: exactMatch http://identifiers.org/snomedct/83436008 property_value: exactMatch NCIT:C128337 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001246 name: Yersinia pseudotuberculosis infectious disease def: "Infections with bacteria of the species Yersinia pseudotuberculosis." [] def: "Infections with bacteria of the species yersinia pseudotuberculosis." [MESH:D015012] synonym: "infection by Pasteurella pseudotuberculosis" RELATED [] synonym: "infection by Yersinia pseudotuberculosis" RELATED [] synonym: "infections, Yersinia pseudotuberculosis" EXACT [MESH:D015012] synonym: "Pasteurella Pseudotuberculoses" RELATED [MESH:D015012] synonym: "Pasteurella pseudotuberculosis" RELATED [MESH:D015012] synonym: "Pasteurella pseudotuberculosis infection" EXACT [] synonym: "Pseudotuberculoses, Pasteurella" RELATED [MESH:D015012] synonym: "Pseudotuberculosis" EXACT [] synonym: "pseudotuberculosis" EXACT [] synonym: "Pseudotuberculosis (disorder)" EXACT [] synonym: "pseudotuberculosis, Pasteurella" RELATED [MESH:D015012] synonym: "Yersinia pseudotuberculosis Infections" EXACT [] synonym: "Yersinia pseudotuberculosis infectious disease" EXACT [] {comment="preferred label from MONDO"} xref: DOID:3299 xref: MESH:D015012 {source="EFO:1001246", source="MONDO:equivalentTo"} xref: MeSH:D015012 xref: MONDO:0007024 xref: SCTID:36753006 {source="MONDO:equivalentTo"} xref: UMLS:C0043410 {source="MONDO:equivalentTo"} is_a: EFO:1001245 {source="MESH:D015012", source="MONDO:Redundant"} ! Yersinia infectious disease property_value: exactMatch http://identifiers.org/mesh/D015012 property_value: exactMatch http://identifiers.org/snomedct/36753006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043410 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001247 name: chancre def: "The primary sore of syphilis, a painless indurated, eroded papule, occurring at the site of entry of the infection." [EFO:1001247] synonym: "chancre" EXACT [] {comment="preferred label from MONDO"} synonym: "syphilitic chancre" EXACT [] xref: MedDRA:10008391 xref: MESH:D002601 {source="MONDO:equivalentTo", source="EFO:1001247"} xref: MeSH:D002601 xref: MONDO:0007025 is_a: EFO:0007504 {source="EFO:1001247", source="MESH:D002601"} ! syphilis property_value: exactMatch http://identifiers.org/mesh/D002601 [Term] id: EFO:1001248 name: non-alcoholic fatty liver def: "A benign form of fatty non-alcoholic fatty liver disease where the disease has not yet progressed to the inflammation of liver." [] synonym: "NAFL" EXACT [] synonym: "non alcoholic fatty liver" EXACT [] synonym: "nonalcoholic fatty liver" EXACT [] xref: MedDRA:10029530 xref: SNOMEDCT:197315008 is_a: HP:0001397 ! Hepatic steatosis property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001249 name: non-alcoholic steatohepatitis def: "A common, often “silent” liver disease. It resembles alcoholic liver disease, but occurs in people who drink little or no alcohol. The major feature in NASH is fat in the liver, along with inflammation and damage." [] def: "Fatty replacement and damage to the hepatocytes not related to alcohol use. It may lead to cirrhosis and liver failure." [NCIT:P378] synonym: "NASH" EXACT [] synonym: "nash - nonalcoholic Steatohepatitis" EXACT [NCIT:C84445] synonym: "non alcoholic steatohepatitis" EXACT [] synonym: "non-alcoholic steatohepatitis" EXACT [] {comment="preferred label from MONDO"} synonym: "nonalcoholic Steatohepatitis" EXACT [NCIT:C84445] synonym: "nonalcoholic steatohepatitis" EXACT [] xref: DOID:0080547 {source="MONDO:equivalentTo"} xref: ICD10:K75.81 xref: MedDRA:10053219 {source="EFO:1001249"} xref: MONDO:0007027 xref: NCIT:C84445 {source="MONDO:equivalentTo", source="EFO:1001249"} xref: NCIt:C84445 xref: SNOMEDCT:442191002 is_a: EFO:0003095 {source="EFO:1001249", source="NCIT:C84445"} ! non-alcoholic fatty liver disease is_a: EFO:0009903 ! inflammatory disease property_value: closeMatch http://identifiers.org/meddra/10053219 property_value: definition:citation http://www.niddk.nih.gov/health-information/health-topics/liver-disease/nonalcoholic-steatohepatitis/Pages/facts.aspx xsd:string property_value: exactMatch DOID:0080547 property_value: exactMatch NCIT:C84445 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001250 name: rotator cuff tear def: "Tear of one or more of the tendons of the four rotator cuff muscles of the shoulder. A rotator cuff 'injury' can include any type of irritation or overuse of those muscles or tendons, and is among the most common conditions affecting the shoulder." [EFO:1001250] synonym: "rotator cuff injury" EXACT [] synonym: "rotator cuff syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "rotator cuff tear" RELATED [] xref: https://en.wikipedia.org/wiki/Rotator_cuff_tear xref: ICD10:S49 xref: ICD10CM:M75.1 {source="MONDO:equivalentTo"} xref: ICD10WHO:M75.1 {source="MONDO:equivalentTo"} xref: ICD9:726.10 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10039229 xref: MONDO:0007028 xref: SCTID:4106009 {source="MONDO:equivalentTo"} xref: UMLS:C0263912 {source="MONDO:equivalentTo"} xref: Wikipedia:Rotator_cuff_tear {source="EFO:1001250"} is_a: EFO:0002970 ! muscular disease is_a: MONDO:0020120 {source="EFO:1001250"} ! skeletal muscle disorder property_value: exactMatch http://identifiers.org/snomedct/4106009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263912 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/M75.1 property_value: exactMatch https://icd.who.int/browse10/2019/en#/M75.1 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001251 name: obsolete_branchio-oto-renal syndrome def: "The symptoms and/or signs of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure.Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck." [] comment: (from orpha.net)\nSummary\n\nBranchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). Prevalence is 1/40,000. Renal involvement can lead to chronic renal insufficiency. The expression of the disease varies widely from one family to another and among individuals of the same family. Some families do not present with renal abnormalities or a urinary tree malformation. BOR syndrome is transmitted in an autosomal dominant manner. The causative gene, EYA1, is located on the long arm of chromosome 8. Point mutations and deletions in EYA1 have been identified in approximately 40% of affected individuals. Mutations have also been identified in the SIX1 and SIX5 genes, the products of which interact with EYA1 to form transcription factor complexes. Prenatal testing can be proposed to families in which the disease-causing mutation has been identified, but genetic counseling is difficult because of the clinical heterogeneity between individuals. Management of affected patients includes excision of branchial fistulae or cysts, hearing aids and education programs appropriate for the hearing impaired, and follow-up by a nephrologist. Dialysis or renal transplantation may be required. synonym: "BOR" EXACT [] synonym: "BOR syndrome" EXACT [] synonym: "Branchio-otorenal dysplasia" EXACT [] synonym: "branchiootorenal dysplasia" EXACT [] synonym: "branchiootorenal syndrome" EXACT [] synonym: "Melnick-Fraser syndrome" EXACT [] xref: DOID:14702 xref: MeSH:D019280 xref: NCIt:C98983 xref: OMIM:113650 xref: OMIM:610896 xref: ORDO:Orphanet_107 xref: SNOMEDCT:205806009 xref: SNOMEDCT:290006 xref: UMLS:C0265234 xref: Wikipedia:Branchio-oto-renal_syndrome property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.87" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplicate of http://www.orpha.net/ORDO/Orphanet_107" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_107 [Term] id: EFO:1001252 name: gastric cardia carcinoma def: "A carcinoma that arises from epithelial cells of the cardia of stomach." [https://orcid.org/0000-0002-6601-2165] def: "A carcinoma that arises from epithelial cells of the cardia of stomach." [MONDO:DesignPattern] synonym: "cancer of gastric cardia" EXACT [NCIT:C6794] synonym: "cancer of the gastric cardia" EXACT [NCIT:C6794] synonym: "carcinoma of cardia of stomach" EXACT [DOID:6270, MONDO:patterns/carcinoma, NCIT:C6794] synonym: "carcinoma of gastric cardia" EXACT [NCIT:C6794] synonym: "carcinoma of the cardia of the stomach" EXACT [NCIT:C6794] synonym: "carcinoma of the gastric cardia" EXACT [NCIT:C6794] synonym: "cardia of stomach carcinoma" EXACT [MONDO:patterns/location] synonym: "gastric cardia (stomach) cancer" EXACT [NCIT:C6794] synonym: "gastric cardia cancer" EXACT [NCIT:C6794] synonym: "gastric cardia carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "gastric cardia carcinoma" EXACT [] {comment="preferred label from MONDO"} xref: DOID:6270 {source="MONDO:equivalentTo"} xref: EFO:1001252 {source="MONDO:equivalentTo"} xref: MONDO:0003834 xref: NCIT:C6794 {source="MONDO:equivalentTo", source="DOID:6270"} xref: UMLS:C1333763 {source="MONDO:equivalentTo", source="DOID:6270"} is_a: EFO:0000178 {source="DOID:6270", source="EFO:1001252", source="MONDO:Redundant", source="NCIT:C6794"} ! gastric carcinoma is_a: MONDO:0001063 {source="DOID:6270", source="MONDO:Redundant"} ! cardia cancer property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0345794 property_value: exactMatch DOID:6270 property_value: exactMatch DOID:6270 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333763 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333763 property_value: exactMatch NCIT:C6794 property_value: exactMatch NCIT:C6794 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:1001253 name: maculopapular eruption def: "A type of rash characterized by a flat, red area on the skin that is covered with small confluent bumps. It is common in several disesases and medical conditions includign scarlet fever, measles, rubella and Ebola, as well as a common manifestation of a skin reaction to a number of drugs including the antibiotic amoxicillin and the antiepileptic drug lamotrigine" [] synonym: "maculopapular rash" EXACT [] xref: Wikipedia:Maculopapular_rash is_a: EFO:0000701 ! skin disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001254 name: noise-induced hearing loss def: "A condition in which a person loses the ability to hear due to exposure to high intensity sound." [NCIT:C34664] def: "Hearing loss due to exposure to explosive loud noise or chronic exposure to sound level greater than 85 dB. The hearing loss is often in the frequency range 4000-6000 hertz." [] def: "temporary or permanent damage to hearing caused by prolonged exposure to loud noise, for example in an occupational setting. NIHL is the most common and significant occupational health issue, affecting 16% of the population worldwide" [] synonym: "Hearing Loss, Noise-Induced" EXACT [] synonym: "hearing loss, noise-induced, susceptibility to" RELATED [MONDO:Lexical, OMIM:613035] synonym: "NIHL" EXACT [] synonym: "NIHL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613035] synonym: "noise induced hearing loss" EXACT [] {comment="preferred label from MONDO"} synonym: "noise-induced hearing loss" EXACT [NCIT:C34664] xref: ICD9:388.12 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10029500 xref: MESH:D006317 {source="MONDO:equivalentTo"} xref: MeSH:D006317 xref: MONDO:0013098 xref: NCIT:C34664 {source="MONDO:equivalentTo"} xref: SCTID:73415002 {source="MONDO:equivalentTo"} xref: SNOMEDCT:73415002 is_a: EFO:0004238 {source="EFO:1001254", source="MESH:D006317/inferred", source="NCIT:C34664"} ! hearing loss is_a: EFO:1001176 ! sensorineural hearing loss is_a: MONDO:0037940 ! inherited auditory system disease property_value: exactMatch http://identifiers.org/mesh/D006317 property_value: exactMatch http://identifiers.org/snomedct/73415002 property_value: exactMatch NCIT:C34664 property_value: excluded_subClassOf MONDO:0003847 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001255 name: spontaneous abortion def: "Expulsion of the product of FERTILIZATION before completing the term of GESTATION and without deliberate interference." [] synonym: "Abortion, spontaneous" EXACT [] xref: DOID:722 xref: ICD10:O03 xref: MedDRA:10041687 xref: MedDRA:10041699 xref: MedDRA:10041700 xref: MedDRA:10041701 xref: MedDRA:10041702 xref: MedDRA:10041703 xref: MedDRA:10041704 xref: MedDRA:10041705 xref: MedDRA:10041706 xref: MedDRA:10041707 xref: MedDRA:10041708 xref: MedDRA:10041709 xref: MedDRA:10041710 xref: MedDRA:10041711 xref: MedDRA:10041712 xref: MedDRA:10041713 xref: MedDRA:10041714 xref: MedDRA:10041715 xref: MedDRA:10041716 xref: MedDRA:10041717 xref: MedDRA:10041718 xref: MedDRA:10041719 xref: MedDRA:10041720 xref: MedDRA:10041721 xref: MedDRA:10041722 xref: MedDRA:10041723 xref: MedDRA:10041724 xref: MedDRA:10041725 xref: MedDRA:10041726 xref: MeSH:D000022 is_a: EFO:1001491 ! abortion property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001256 name: ACTH Syndrome, Ectopic def: "Symptom complex due to ACTH production by non-pituitary neoplasms." [] synonym: "ectopic ACTH secretion syndrome" EXACT [] xref: ICD10:E24.3 xref: MedDRA:10014146 xref: MeSH:D000182 xref: NCIt:C4387 is_a: EFO:0003769 ! endocrine neoplasm property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001257 name: acute erythroblastic leukemia def: "A myeloproliferative disorder characterized by neoplastic proliferation of erythroblastic and myeloblastic elements with atypical erythroblasts and myeloblasts in the peripheral blood." [] synonym: "Leukemia, Erythroblastic, Acute" EXACT [] xref: MeSH:D004915 is_a: EFO:0000222 ! acute myeloid leukemia property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001258 name: Adenomatosis, Pulmonary def: "A neoplastic disease in which the alveoli and distal bronchi are filled with mucus and mucus-secreting columnar epithelial cells. It is characterized by abundant, extremely tenacious sputum, chills, fever, cough, dyspnea, and pleuritic pain. (Stedman, 25th ed)" [] synonym: "pulmonary adenomatosis" EXACT [] xref: MeSH:D018255 is_a: EFO:0000616 ! neoplasm property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001259 name: Adenoviridae Infections def: "Virus diseases caused by the ADENOVIRIDAE." [] xref: DOID:50298 xref: MeSH:D000257 is_a: EFO:0000763 ! viral disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001260 name: alcoholic psychosis def: "A group of mental disorders associated with organic brain damage and caused by poisoning from alcohol." [MESH:D011604] synonym: "alcoholic psychoses" EXACT [DOID:252] synonym: "alcoholic psychosis" EXACT [] {comment="preferred label from MONDO"} synonym: "psychoses, alcoholic" EXACT [] synonym: "psychosis, alcoholic" EXACT [] xref: DOID:252 {source="MONDO:equivalentTo"} xref: ICD9:291.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:291.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:291.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:252"} xref: MedDRA:10001632 xref: MedDRA:10001633 xref: MedDRA:10001634 xref: MESH:D011604 {source="MONDO:equivalentTo", source="DOID:252"} xref: MeSH:D011604 xref: MONDO:0002330 xref: SCTID:42344001 {source="MONDO:equivalentTo", source="DOID:252"} is_a: EFO:0005407 ! psychosis is_a: MONDO:0002326 {source="DOID:252", source="MONDO:Redundant"} ! alcohol-induced mental disorder is_a: MONDO:0021698 {source="MESH:D011604", source="MESH:D011604/inferred"} ! alcohol-related disorders property_value: exactMatch DOID:252 property_value: exactMatch http://identifiers.org/mesh/D011604 property_value: exactMatch http://identifiers.org/snomedct/42344001 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001261 name: Alien Hand Syndrome def: "An apraxia characterized by the affected limb having involuntary, autonomous, and purposeful behaviors that are perceived as being controlled by an external force. Often the affected limb interferes with the actions of the normal limb. Symptoms develop from lesions in the CORPUS CALLOSUM or medial frontal cortex, stroke, infarction, and neurodegenerative diseases (e.g., CREUTZFELDT-JAKOB SYNDROME, corticobasal degeneration)." [] synonym: "alien limb syndrome" EXACT [] xref: MedDRA:10070883 xref: MeSH:D055964 is_a: EFO:0000618 ! nervous system disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001262 name: Alternariosis def: "Opportunistic fungal infection by a member of ALTERNARIA genus." [] synonym: "cutaneous alternariosis" EXACT [] synonym: "dermal alternariosis" EXACT [] synonym: "subcutaneous alternariosis" EXACT [] xref: MeSH:D060487 xref: SNOMEDCT:238426005 is_a: EFO:0000701 ! skin disease property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001263 name: amniotic fluid embolism def: "Blocking of maternal circulation by AMNIOTIC FLUID that is forced into uterine VEINS by strong UTERINE CONTRACTION near the end of pregnancy. It is characterized by the sudden onset of severe respiratory distress and HYPOTENSION that can lead to maternal DEATH." [] synonym: "Embolism, Amniotic Fluid" EXACT [] xref: ICD9:673.14 xref: MedDRA:10001971 xref: MedDRA:10001972 xref: MedDRA:10001973 xref: MedDRA:10001974 xref: MedDRA:10001975 xref: MedDRA:10001976 xref: MeSH:D004619 is_a: EFO:0009682 ! pregnancy disorder is_a: MONDO:0004634 ! vein disorder property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001264 name: Anemia, Hemolytic, Autoimmune def: "Acquired hemolytic anemia due to the presence of AUTOANTIBODIES which agglutinate or lyse the patient's own RED BLOOD CELLS." [] def: "Autoimmune hemolytic anemia (AIHA) is an autoimmune disorder in which various types of auto-antibodies are directed against red blood cells causing their survival to be shortened and resulting in hemolytic anemia." [Orphanet:98375] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98375"} synonym: "acquired autoimmune hemolytic anaemia" RELATED OMO:0003005 [] synonym: "acquired autoimmune hemolytic anemia" RELATED [GARD:0005870] synonym: "AHA" EXACT ABBREVIATION [Orphanet:98375] synonym: "AIHA" EXACT ABBREVIATION [Orphanet:98375] synonym: "anaemia hemolytic autoimmune" RELATED OMO:0003005 [] synonym: "anemia hemolytic autoimmune" RELATED [GARD:0005870] synonym: "anemia, autoimmune hemolytic" RELATED [OMIM:205700] synonym: "autoimmune haemolytic anaemia" EXACT OMO:0003005 [] synonym: "autoimmune haemolytic anemia" EXACT [DOID:718] synonym: "autoimmune hemolytic anemia" EXACT [] {comment="preferred label from MONDO"} synonym: "autoimmune hemolytic anemia" EXACT [MONDO:0008784] synonym: "familial auto-immune hemolytic anaemia (subtype)" RELATED OMO:0003005 [] synonym: "familial auto-immune hemolytic anemia (subtype)" RELATED [GARD:0005870] synonym: "idiopathic autoimmune hemolytic anaemia" RELATED OMO:0003005 [] synonym: "idiopathic autoimmune hemolytic anemia" RELATED [GARD:0005870] synonym: "immuno-hemolytic anaemia" RELATED OMO:0003005 [] synonym: "immuno-hemolytic anemia" RELATED [GARD:0005870] xref: CSP:0427-1178 {source="DOID:718"} xref: DOID:718 {source="MONDO:equivalentTo"} xref: ICD9:283.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:718"} xref: MedDRA:10002046 {source="Orphanet:98375/e", source="Orphanet:98375"} xref: MESH:D000744 {source="Orphanet:98375/e", source="MONDO:equivalentTo", source="DOID:718", source="Orphanet:98375"} xref: MeSH:D000744 xref: MONDO:0020108 xref: NCIT:C34378 {source="MONDO:equivalentTo", source="DOID:718"} xref: OMIM:205700 {source="MONDO:equivalentTo", source="DOID:718"} xref: Orphanet:98375 {source="MONDO:equivalentTo"} xref: SCTID:413603009 {source="MONDO:equivalentTo", source="DOID:718"} xref: UMLS:C0002880 {source="Orphanet:98375/e", source="MONDO:equivalentTo", source="OMIM:205700", source="MONDO:ncbi_mim2gene_medline", source="DOID:718", source="NCIT:C34378", source="Orphanet:98375"} is_a: MONDO:0000602 {source="DOID:718"} ! autoimmune disorder of blood is_a: MONDO:0004139 ! normocytic anemia property_value: closeMatch http://identifiers.org/meddra/10002046 property_value: exactMatch DOID:718 property_value: exactMatch http://identifiers.org/mesh/D000744 property_value: exactMatch http://identifiers.org/snomedct/413603009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002880 property_value: exactMatch https://omim.org/entry/205700 property_value: exactMatch NCIT:C34378 property_value: exactMatch Orphanet:98375 property_value: excluded_subClassOf MONDO:0015911 {source="Orphanet:98375"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001265 name: Aneurysm, False def: "Not an aneurysm but a well-defined collection of blood and CONNECTIVE TISSUE outside the wall of a blood vessel or the heart. It is the containment of a ruptured blood vessel or heart, such as sealing a rupture of the left ventricle. False aneurysm is formed by organized THROMBUS and HEMATOMA in surrounding tissue." [] xref: MeSH:D017541 is_a: EFO:0004264 ! vascular disease property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001266 name: Aniseikonia def: "A condition in which the ocular image of an object as seen by one eye differs in size and shape from that seen by the other." [MESH:D000839] synonym: "aniseikonia" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0050304 {source="MONDO:equivalentTo"} xref: DOID:50304 xref: ICD10CM:H52.32 {source="MONDO:equivalentTo"} xref: ICD9:367.32 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10002534 xref: MedDRA:1002534 xref: MESH:D000839 {source="MONDO:equivalentTo"} xref: MeSH:D000839 xref: MONDO:0000309 xref: SCTID:16059006 {source="MONDO:equivalentTo"} xref: SNOMEDCT:16059006 is_a: MONDO:0004892 {source="DOID:0050304", source="MESH:D000839"} ! refractive error property_value: exactMatch DOID:0050304 property_value: exactMatch http://identifiers.org/mesh/D000839 property_value: exactMatch http://identifiers.org/snomedct/16059006 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H52.32 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001267 name: Aortic Coarctation def: "A birth defect characterized by the narrowing of the AORTA that can be of varying degree and at any point from the transverse arch to the iliac bifurcation. Aortic coarctation causes arterial HYPERTENSION before the point of narrowing and arterial HYPOTENSION beyond the narrowed portion." [] def: "Congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps." [NCIT:C84567] subset: ordo_morphological_anomaly {source="Orphanet:1457"} synonym: "aorta coarctation" EXACT [] {comment="preferred label from MONDO"} synonym: "aortic coarctation" EXACT [NCIT:C84567] synonym: "coarctation of aorta" EXACT [] synonym: "coarctation of aorta" RELATED [OMIM:120000] synonym: "coarctation of the aorta" RELATED [GARD:0005828] xref: ICD10:Q25.1 xref: ICD10CM:Q25.1 {source="MONDO:equivalentTo", source="Orphanet:1457", source="Orphanet:1457/e"} xref: ICD9:747.1 xref: ICD9:747.10 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10002894 xref: MedDRA:10009807 {source="Orphanet:1457", source="Orphanet:1457/e"} xref: MESH:D001017 {source="MONDO:equivalentTo", source="Orphanet:1457", source="Orphanet:1457/e"} xref: MeSH:D001017 xref: MONDO:0007345 xref: NCIT:C84567 {source="MONDO:equivalentTo"} xref: NCIt:C84567 xref: OMIM:120000 {source="MONDO:equivalentTo", source="Orphanet:1457", source="Orphanet:1457/e"} xref: ORDO:Orphanet_1457 xref: Orphanet:1457 {source="MONDO:equivalentTo", source="OMIM:120000"} xref: SCTID:7305005 {source="MONDO:equivalentTo"} xref: SNOMEDCT:7305005 xref: UMLS:C0003492 {source="NCIT:C84567", source="MONDO:equivalentTo", source="Orphanet:1457", source="MONDO:ncbi_mim2gene_medline", source="OMIM:120000", source="Orphanet:1457/e"} is_a: MONDO:0020286 {source="Orphanet:1457"} ! aortic malformation property_value: closeMatch http://identifiers.org/meddra/10009807 property_value: exactMatch http://identifiers.org/mesh/D001017 property_value: exactMatch http://identifiers.org/snomedct/7305005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003492 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q25.1 property_value: exactMatch https://omim.org/entry/120000 property_value: exactMatch NCIT:C84567 property_value: exactMatch Orphanet:1457 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001268 name: Aortic Rupture def: "The tearing or bursting of the wall along any portion of the AORTA, such as thoracic or abdominal. It may result from the rupture of an aneurysm or it may be due to TRAUMA." [] xref: DOID:7682 xref: MedDRA:10060874 xref: MeSH:D001019 is_a: EFO:0005775 ! aortic disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001269 name: Arbovirus Infections def: "A viral infection that is transmitted by an arthropod." [NCIT:C34396] def: "Infections caused by arthropod-borne viruses, general or unspecified." [] synonym: "Arboviral disease" RELATED [UMLS:C0003723] synonym: "ARBOVIRUS INFECT" RELATED [MESH:D001102] synonym: "Arbovirus Infection" RELATED [MESH:D001102, NCIT:C34396] synonym: "Arbovirus infection" RELATED [UMLS:C0003723] synonym: "arbovirus infection" EXACT [] {comment="preferred label from MONDO"} synonym: "arbovirus infection" EXACT [NCIT:C34396] synonym: "Arbovirus Infections" RELATED [MESH:D001102] synonym: "Arthropod-Borne Viral Infection" RELATED [NCIT:C34396] synonym: "Arthropod-borne viral infection" RELATED [UMLS:C0003723] synonym: "arthropod-borne viral infection" EXACT [NCIT:C34396] synonym: "Infection, Arbovirus" RELATED [MESH:D001102] synonym: "Infections, Arbovirus" RELATED [MESH:D001102] xref: DOID:934 xref: MESH:D001102 {source="MONDO:equivalentTo", source="UMLS:C0003723"} xref: MeSH:D001102 xref: MONDO:0020731 xref: NCIT:C34396 {source="MONDO:equivalentTo", source="UMLS:C0003723"} xref: SCTID:40610006 {source="MONDO:equivalentTo", source="UMLS:C0003723"} xref: UMLS:C0003723 {source="MONDO:equivalentTo"} is_a: EFO:0000763 {source="MESH:D001102", source="NCIT:C34396"} ! viral disease is_a: MONDO:0100120 ! vector-borne disease property_value: exactMatch http://identifiers.org/mesh/D001102 property_value: exactMatch http://identifiers.org/snomedct/40610006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003723 property_value: exactMatch NCIT:C34396 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001270 name: Arterio-Arterial Fistula def: "Abnormal communication between two ARTERIES that may result from injury or occur as a congenital abnormality." [] xref: MeSH:D001159 is_a: EFO:0004264 ! vascular disease property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001271 name: Atrophic Vaginitis def: "Inflammation of the vagina due to thinning of the vaginal wall and decreased lubrication associated with reduced estrogen levels at MENOPAUSE." [] xref: MedDRA:10003690 xref: MeSH:D059268 xref: SNOMEDCT:52441000 is_a: EFO:0005757 ! vaginal inflammation property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001272 name: bacterial pneumonia def: "Acute infection of the lung parenchyma caused by bacteria (e.g., Streptococcus pneumoniae, Haemophilus influenzae, Chlamydia pneumoniae, Mycoplasma pneumoniae, and Legionella pneumophila). Signs and symptoms include productive cough, fever, chills, shortness of breath, and chest pain." [NCIT:P378] def: "Inflammation of the lung parenchyma that is caused by bacterial infections." [] synonym: "Bacteria caused pneumonia" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Bacteria pneumonia" EXACT [] synonym: "bacterial pneumonia" EXACT [] {comment="preferred label from MONDO"} synonym: "gram-negative pneumonia" EXACT [DOID:874] synonym: "pneumonia due to other gram-negative bacteria" EXACT [DOID:874, ICD9CM:482.83] synonym: "Pneumonia, Bacterial" EXACT [] xref: DOID:874 {source="MONDO:equivalentTo"} xref: ICD10:J15 xref: ICD9:482.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:482.9 {source="DOID:874", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10004051 xref: MESH:D018410 {source="DOID:874", source="MONDO:equivalentTo"} xref: MeSH:D018410 xref: MONDO:0004652 xref: NCIT:C26704 {source="DOID:874", source="MONDO:equivalentTo"} xref: NCIt:C26704 xref: SCTID:53084003 {source="DOID:874", source="MONDO:equivalentTo"} xref: SNOMEDCT:53084003 xref: UMLS:C0004626 {source="DOID:874", source="MONDO:equivalentTo", source="NCIT:C26704"} is_a: EFO:0000771 {source="MESH:D018410", source="MONDO:Redundant", source="NCIT:C26704"} ! bacterial disease is_a: EFO:0003106 {source="DOID:874", source="EFO:1001272", source="MESH:D018410", source="MONDO:Redundant", source="NCIT:C26704"} ! pneumonia property_value: exactMatch DOID:874 property_value: exactMatch http://identifiers.org/mesh/D018410 property_value: exactMatch http://identifiers.org/snomedct/53084003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004626 property_value: exactMatch NCIT:C26704 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001273 name: obsolete_Birt-Hogg-Dube Syndrome def: "Autosomal dominant neoplastic syndrome characterised by genodermatosis, lung cysts, spontaneous and recurrent PNEUMOTHORAX; and RENAL CANCER. It is associated with mutations in the folliculin protein gene (FLCN protein)." [] synonym: "multiple fibrofolliculomas" EXACT [] xref: DOID:0050676 xref: MedDRA:10067736 xref: MeSH:D058249 xref: NCIt:C28244 xref: OMIM:135150 xref: SNOMEDCT:110985001 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.98" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication\nUse http://www.orpha.net/ORDO/Orphanet_122\nLabel : Birt-Hogg-Dubé syndrome" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_122 [Term] id: EFO:1001274 name: Bone Anteversion def: "Malalignment of a bone in which its head and neck is rotated excessively forward or inward." [] xref: MeSH:D060750 is_a: HP:0000924 ! Abnormality of the skeletal system property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001275 name: Bordetella Infections def: "Infections with bacteria of the genus BORDETELLA." [] xref: DOID:50399 xref: MedDRA:10006024 xref: MeSH:D001885 is_a: EFO:0000771 ! bacterial disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001276 name: Brain Stem Hemorrhage, Traumatic def: "Bleeding into structures of BRAIN STEM, including the MIDBRAIN; PONS; or MEDULLA OBLONGATA, as the result of CRANIOCEREBRAL TRAUMA. DIFFUSE AXONAL INJURY is commonly associated. Clinical manifestations may include OCULAR MOTILITY DISORDERS; ATAXIA; PARALYSIS; PERSISTENT VEGETATIVE STATE; and COMA." [] xref: MeSH:D020203 is_a: EFO:0000551 ! intracranial hemorrhage property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001277 name: Branchioma def: "A tumor derived from branchial epithelium or branchial rests. (Dorland, 27th ed)" [] xref: MeSH:D001935 xref: SNOMEDCT:42362005 is_a: MONDO:0004992 ! cancer property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001278 name: Brown-Pearce carcinoma synonym: "Brown-Pearce Carcinoma" RELATED [MESH:D002284, MSH:D002284] synonym: "Brown-Pearce carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "Brown-Pearce carcinoma" EXACT [MESH:D002284] synonym: "Brown-Pearce Epithelioma" RELATED [MESH:D002284, MSH:D002284] synonym: "Brown-Pearce epithelioma" EXACT [MESH:D002284] synonym: "Brown-Pearce tumor" EXACT [] synonym: "Brown-Pearce tumour" EXACT OMO:0003005 [] synonym: "Carcinoma, Brown Pearce" RELATED [MESH:D002284, MSH:D002284] synonym: "carcinoma, Brown Pearce" EXACT [MESH:D002284] synonym: "Carcinoma, Brown-Pearce" RELATED [MSH:D002284] synonym: "carcinoma, Brown-Pearce" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "carcinoma, Brown-Pearce" EXACT [MESH:D002284] synonym: "Epithelioma, Brown Pearce" RELATED [MESH:D002284, MSH:D002284] synonym: "epithelioma, Brown Pearce" EXACT [MESH:D002284] synonym: "Epithelioma, Brown-Pearce" RELATED [MESH:D002284, MSH:D002284] synonym: "epithelioma, Brown-Pearce" EXACT [MESH:D002284] xref: EFO:1001278 {source="MONDO:equivalentTo"} xref: MESH:D002284 {source="UMLS:C0007122", source="MONDO:equivalentTo"} xref: MONDO:0020764 xref: UMLS:C0007122 {source="MONDO:equivalentTo"} is_a: MONDO:0700101 ! carcinoma, non-human animal property_value: exactMatch http://identifiers.org/mesh/D002284 property_value: exactMatch http://identifiers.org/mesh/D002284 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007122 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007122 property_value: RO:0002175 NCBITaxon:9986 {source="MESH:D002284"} [Term] id: EFO:1001279 name: Brown-Sequard Syndrome def: "A syndrome associated with injury to the lateral half of the spinal cord. The condition is characterized by the following clinical features (which are found below the level of the lesion): contralateral hemisensory anesthesia to pain and temperature, ipsilateral loss of propioception, and ipsilateral motor paralysis. Tactile sensation is generally spared. (From Adams et al., Principles of Neurology, 6th ed, p162)." [] def: "Brown-Sequard syndrome is a rare neurological condition that results from an injury or damage to one side of the spinal cord. This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation on the opposite side (hemianesthesia). Brown-Sequard syndrome most commonly occurs in the the thoracic spine (upper and middle back). There are several causes of Brown-Sequard syndrome, including: a spinal cord tumor, trauma (such as a puncture wound to the neck or back), infectious or inflammatory diseases (tuberculosis or multiple sclerosis), and disk herniation. Treatment for this condition varies depending on the underlying cause." [https://rarediseases.info.nih.gov/diseases/5964/brown-sequard-syndrome] subset: gard_rare {source="GARD:0005964"} synonym: "Brown-Sequard syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Brown-Squard syndrome" EXACT [DOID:606] synonym: "Hemicord syndrome" RELATED [GARD:0005964] synonym: "Hemiparaplegic syndrome" RELATED [GARD:0005964] synonym: "Hemispinal cord syndrome" RELATED [GARD:0005964] xref: DOID:606 {source="MONDO:equivalentTo"} xref: ICD10CM:G83.81 {source="DOID:606", source="MONDO:equivalentTo"} xref: MedDRA:10006491 xref: MESH:D018437 {source="DOID:606", source="MONDO:equivalentTo"} xref: MeSH:D018437 xref: MONDO:0003754 xref: NCIT:C84601 {source="DOID:606", source="MONDO:equivalentTo"} xref: NCIt:C84601 xref: SCTID:27982003 {source="DOID:606", source="MONDO:equivalentTo"} is_a: EFO:0009679 {source="DOID:606", source="MESH:D018437"} ! paraplegia is_a: MONDO:0002254 {source="NCIT:C84601"} ! syndromic disease property_value: exactMatch DOID:606 property_value: exactMatch http://identifiers.org/mesh/D018437 property_value: exactMatch http://identifiers.org/snomedct/27982003 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G83.81 property_value: exactMatch NCIT:C84601 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5964/brown-sequard-syndrome xsd:anyURI {source="GARD:0005964"} [Term] id: EFO:1001280 name: Burkholderia Infections def: "Infections with bacteria of the genus BURKHOLDERIA." [] xref: DOID:50377 xref: MedDRA:10074473 xref: MeSH:D019121 is_a: EFO:0000771 ! bacterial disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001281 name: obsolete_Buruli Ulcer def: "A lesion in the skin and subcutaneous tissues due to infections by MYCOBACTERIUM ULCERANS. It was first reported in Uganda, Africa." [] xref: DOID:0050456 xref: ICD10:A31.1 xref: MedDRA:10066290 xref: MeSH:D054312 xref: NCIt:C84604 xref: OMIM:610446 xref: SNOMEDCT:15845006 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.38.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replaced with Mondo term\nsee https://github.com/ebispot/efo/issues/1381" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/MONDO_0000327 [Term] id: EFO:1001282 name: Candidemia def: "A form of invasive candidiasis where species of CANDIDA are present in the blood." [] xref: MedDRA:10060573 xref: MeSH:D058387 xref: SNOMEDCT:432261003 is_a: EFO:1001283 ! Candidiasis, Invasive property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001283 name: Candidiasis, Invasive def: "An important nosocomial fungal infection with species of the genus CANDIDA, most frequently CANDIDA ALBICANS. Invasive candidiasis occurs when candidiasis goes beyond a superficial infection and manifests as CANDIDEMIA, deep tissue infection, or disseminated disease with deep organ involvement." [] xref: ICD10:B37 xref: MeSH:D058365 is_a: EFO:0005741 ! infectious disease property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001284 name: capillary leak syndrome def: "A condition characterized by recurring episodes of fluid leaking from capillaries into extra-vascular compartments causing hematocrit to rise precipitously. If not treated, generalized vascular leak can lead to generalized EDEMA; SHOCK; cardiovascular collapse; and MULTIPLE ORGAN FAILURE." [] def: "A syndrome characterized by leakage of intravascular fluids into the extravascular space. This syndrome is observed in patients who demonstrate a state of generalized leaky capillaries following shock syndromes, low-flow states, ischemia-reperfusion injuries, toxemias, medications, or poisoning. It can lead to generalized edema and multiple organ failure." [NCIT:P378] subset: ordo_disease {source="Orphanet:188"} synonym: "acute vascular leak syndrome" EXACT [NCIT:C62578] synonym: "AVLS" EXACT ABBREVIATION [NCIT:C62578] synonym: "capillary hyperpermeability syndrome" EXACT [Orphanet:188] synonym: "Capillary Leak Syndrome" EXACT [] synonym: "capillary leak syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "capillary leak syndrome" EXACT [Orphanet:188] synonym: "Capillary leak syndrome (disorder)" EXACT [] synonym: "capillary leak syndrome with monoclonal gammopathy" RELATED [GARD:0001084] synonym: "Clarkson disease" EXACT [Orphanet:188] synonym: "CLS" EXACT ABBREVIATION [NCIT:C62578] synonym: "idiopathic capillary leak syndrome" EXACT [Orphanet:188] synonym: "periodic systemic capillary leak syndrome" RELATED [GARD:0001084] synonym: "SCLS" EXACT ABBREVIATION [Orphanet:188] synonym: "systemic capillary leak syndrome" EXACT [MONDO:0015996] xref: DOID:14400 {source="MONDO:equivalentTo"} xref: ICD9:448.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10007196 {source="Orphanet:188/e", source="Orphanet:188"} xref: MESH:D019559 {source="Orphanet:188/e", source="MONDO:equivalentTo", source="Orphanet:188", source="DOID:14400"} xref: MeSH:D019559 xref: MONDO:0001956 xref: NCIT:C62578 {source="MONDO:equivalentTo", source="DOID:14400"} xref: NCIt:C62578 xref: Orphanet:188 {source="MONDO:equivalentTo"} xref: SCTID:87730004 {source="MONDO:equivalentTo", source="DOID:14400"} xref: SNOMEDCT:87730004 xref: UMLS:C0343084 {source="NCIT:C62578", source="Orphanet:188/e", source="MONDO:equivalentTo", source="Orphanet:188", source="DOID:14400"} is_a: MONDO:0001574 {source="DOID:14400"} ! capillary disorder is_a: MONDO:0002254 {source="NCIT:C62578"} ! syndromic disease property_value: closeMatch http://identifiers.org/meddra/10007196 property_value: exactMatch DOID:14400 property_value: exactMatch http://identifiers.org/mesh/D019559 property_value: exactMatch http://identifiers.org/snomedct/87730004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343084 property_value: exactMatch NCIT:C62578 property_value: exactMatch Orphanet:188 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001285 name: Cardiac Tamponade def: "Acute compression of the heart caused by increased intrapericardial pressure due to the collection of blood or fluid in the pericardium from rupture of the heart, penetrating trauma, or progressive effusion." [NCIT:P378] def: "Compression of the heart by accumulated fluid (PERICARDIAL EFFUSION) or blood (HEMOPERICARDIUM) in the PERICARDIUM surrounding the heart. The affected cardiac functions and CARDIAC OUTPUT can range from minimal to total hemodynamic collapse." [] synonym: "cardiac tamponade" EXACT [] {comment="preferred label from MONDO"} synonym: "pericardial tamponade" EXACT [DOID:115] synonym: "rose's tamponade" EXACT [DOID:115] xref: DOID:115 {source="MONDO:equivalentTo"} xref: ICD10:I31.4 xref: ICD10CM:I31.4 {source="DOID:115", source="MONDO:equivalentTo"} xref: ICD9:423.3 {source="DOID:115", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10007610 xref: MESH:D002305 {source="DOID:115", source="MONDO:equivalentTo"} xref: MeSH:D002305 xref: MONDO:0001297 xref: NCIT:C50481 {source="DOID:115", source="MONDO:equivalentTo"} xref: NCIt:C50481 xref: SCTID:35304003 {source="DOID:115", source="MONDO:equivalentTo"} xref: SNOMEDCT:35304003 xref: UMLS:C0007177 {source="DOID:115", source="MONDO:equivalentTo", source="NCIT:C50481"} is_a: MONDO:0001370 {source="DOID:115"} ! pericardial effusion property_value: exactMatch DOID:115 property_value: exactMatch http://identifiers.org/mesh/D002305 property_value: exactMatch http://identifiers.org/snomedct/35304003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007177 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/I31.4 property_value: exactMatch NCIT:C50481 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001286 name: Caroli Disease def: "Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts." [Orphanet:53035] def: "Congenital cystic dilatation of the intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC). It consists of 2 types: simple Caroli disease is characterized by bile duct dilatation (ectasia) alone; and complex Caroli disease is characterized by bile duct dilatation with extensive hepatic fibrosis and portal hypertension (HYPERTENSION, PORTAL). Benign renal tubular ectasia is associated with both types of Caroli disease." [] subset: gard_rare {source="GARD:0006002"} subset: ordo_malformation_syndrome {source="Orphanet:53035"} synonym: "Caroli disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Caroli disease isolated" RELATED [GARD:0006002] synonym: "CAROLI disease, isolated" RELATED [OMIM:600643] synonym: "congenital polycystic dilatation of intrahepatic bile ducts" RELATED [GARD:0006002] synonym: "cystic dilatation of the intrahepatic biliary tree" RELATED [GARD:0006002] xref: DOID:0050876 {source="MONDO:equivalentTo"} xref: MedDRA:10013003 {source="Orphanet:53035", source="Orphanet:53035/e"} xref: MESH:D016767 {source="Orphanet:53035", source="DOID:0050876", source="MONDO:equivalentTo", source="Orphanet:53035/e"} xref: MeSH:D016767 xref: MONDO:0010913 xref: NCIT:C84619 {source="DOID:0050876", source="MONDO:equivalentTo"} xref: NCIt:C84619 xref: OMIM:600643 {source="Orphanet:53035", source="MONDO:equivalentTo", source="Orphanet:53035/e"} xref: Orphanet:53035 {source="MONDO:equivalentTo", source="OMIM:600643"} xref: SCTID:717232005 {source="MONDO:equivalentTo"} xref: UMLS:C0162510 {source="Orphanet:53035", source="DOID:0050876", source="MONDO:equivalentTo", source="Orphanet:53035/e", source="NCIT:C84619"} xref: UMLS:C1833541 {source="Orphanet:53035", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:600643", source="Orphanet:53035/e"} is_a: EFO:1000400 {source="NCIT:C84619"} ! Non-Neoplastic Bile Duct Disorder is_a: MONDO:0015213 {source="Orphanet:53035"} ! non-syndromic visceral malformation is_a: MONDO:0015509 ! hereditary biliary tract disease property_value: closeMatch http://identifiers.org/meddra/10013003 property_value: exactMatch DOID:0050876 property_value: exactMatch http://identifiers.org/mesh/D016767 property_value: exactMatch http://identifiers.org/snomedct/717232005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162510 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833541 property_value: exactMatch https://omim.org/entry/600643 property_value: exactMatch NCIT:C84619 property_value: exactMatch Orphanet:53035 property_value: excluded_subClassOf MONDO:0015509 {source="MONDO:Redundant", source="Orphanet:53035"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6002/caroli-disease xsd:anyURI {source="GARD:0006002"} [Term] id: EFO:1001287 name: Cestode Infections def: "Infections with true tapeworms of the helminth subclass CESTODA." [] xref: DOID:933 xref: ICD10:B71 xref: MedDRA:10008378 xref: MeSH:D002590 is_a: EFO:0001067 ! parasitic infection property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001288 name: Chlamydiaceae Infections def: "Infections with bacteria of the family CHLAMYDIACEAE." [MESH:D002694] synonym: "Chlamydiaceae Infection" RELATED [MESH:D002694] synonym: "Chlamydiaceae Infections" RELATED [MESH:D002694] synonym: "chlamydiaceae infections" EXACT [] {comment="preferred label from MONDO"} synonym: "Infection, Chlamydiaceae" RELATED [MESH:D002694] synonym: "Infections, Chlamydiaceae" RELATED [MESH:D002694] xref: DOID:50358 xref: ICD10:A70 xref: MESH:D002694 {source="MONDO:equivalentTo", source="UMLS:C0008153"} xref: MeSH:D002694 xref: MONDO:0020776 xref: UMLS:C0008153 {source="MONDO:equivalentTo"} is_a: MONDO:0021678 {source="MESH:D002694"} ! gram-negative bacterial infections property_value: exactMatch http://identifiers.org/mesh/D002694 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008153 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001289 name: Cholecystitis, Acute def: "Acute inflammation of the GALLBLADDER wall. It is characterized by the presence of ABDOMINAL PAIN; FEVER; and LEUKOCYTOSIS. Gallstone obstruction of the CYSTIC DUCT is present in approximately 90% of the cases." [] synonym: "acute cholecystitis" EXACT [] xref: MeSH:D041881 is_a: EFO:0003832 ! gallbladder disease is_a: EFO:1000025 ! cystitis relationship: RO:0000056 GO:0006954 ! participates_in inflammatory response property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001290 name: chorea gravidarum def: "A rare movement disorder developed during PREGNANCY, characterized by involuntary jerky motion (CHOREA) and inability to maintain stable position of body parts (ATHETOSIS). RHEUMATIC FEVER and collagen vascular disorders are frequently associated with this disease. Chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (From Md Med J 1997 Sep;46(8):436-9)" [] def: "A rare movement disorder developed during pregnancy, characterized by involuntary jerky motion (chorea) and inability to maintain stable position of body parts (athetosis). rheumatic fever and collagen vascular disorders are frequently associated with this disease. Chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (From Md Med J 1997 Sep;46(8):436-9)" [MESH:D020150] synonym: "Chorea Gravidarum" EXACT [] synonym: "chorea gravidarum" EXACT [] {comment="preferred label from MONDO"} synonym: "Chorea gravidarum (disorder)" EXACT [] xref: DOID:14483 {source="MONDO:equivalentTo"} xref: ICD9:646.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D020150 {source="DOID:14483", source="MONDO:equivalentTo"} xref: MeSH:D020150 xref: MONDO:0001976 xref: SCTID:25113000 {source="DOID:14483", source="MONDO:equivalentTo"} xref: SNOMEDCT:25113000 xref: UMLS:C0264746 {source="DOID:14483", source="MONDO:equivalentTo"} is_a: EFO:0004152 {source="DOID:14483", source="MONDO:Redundant"} ! chorea is_a: EFO:0009682 ! pregnancy disorder intersection_of: EFO:0004152 ! chorea intersection_of: EFO:0009682 ! pregnancy disorder property_value: exactMatch DOID:14483 property_value: exactMatch http://identifiers.org/mesh/D020150 property_value: exactMatch http://identifiers.org/snomedct/25113000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264746 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001291 name: ciguatera poisoning def: "Poisoning caused by ingestion of seafood containing microgram levels of ciguatoxins. The poisoning is characterized by gastrointestinal, neurological and cardiovascular disturbances." [MESH:D036841] subset: gard_rare synonym: "ciguatera" RELATED [MESH:D036841] synonym: "Ciguatera fish poisoning" EXACT [] synonym: "ciguatera fish poisoning" EXACT [] {comment="preferred label from MONDO"} synonym: "ciguatera fish poisoning" EXACT [MESH:D036841] synonym: "ciguatera fish Poisonings" RELATED [MESH:D036841] synonym: "ciguatera poisoning" RELATED [GARD:0006113] synonym: "ciguatera Poisonings" RELATED [MESH:D036841] synonym: "ciguatoxin causing toxic effect" EXACT [] synonym: "poisoning, ciguatera" RELATED [MESH:D036841] synonym: "poisoning, ciguatera fish" RELATED [MESH:D036841] synonym: "Poisonings, ciguatera" RELATED [MESH:D036841] synonym: "Poisonings, ciguatera fish" RELATED [MESH:D036841] synonym: "toxic effect of ciguatera fish poisoning" RELATED [] xref: ICD10:T61.0 xref: MESH:D036841 {source="MONDO:equivalentTo"} xref: MeSH:D036841 xref: MONDO:0043230 xref: SCTID:241774007 {source="MONDO:equivalentTo"} is_a: EFO:0008546 {source="MESH:D036841/inferred"} ! poisoning property_value: exactMatch http://identifiers.org/mesh/D036841 property_value: exactMatch http://identifiers.org/snomedct/241774007 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001292 name: Circoviridae Infections def: "Virus diseases caused by the CIRCOVIRIDAE." [] xref: MeSH:D018173 is_a: EFO:0000763 ! viral disease property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001293 name: collagenous colitis def: "A subtype of MICROSCOPIC COLITIS, characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. Microscopic examination of biopsy samples taken from the COLON show larger-than-normal band of subepithelial COLLAGEN." [] def: "A type of microscopic colitis of unknown etiology. It is characterized by the presence of collagen deposits in the lamina propria of the colonic mucosa. Patients present with chronic watery diarrhea. Colonoscopy reveals normal-appearing mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples." [NCIT:P378] synonym: "Colitis, Collagenous" EXACT [] synonym: "collagenous colitis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0060183 {source="MONDO:equivalentTo"} xref: DOID:60183 xref: ICD10CM:K52.831 {source="MONDO:equivalentTo"} xref: ICD9:558.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10048928 {source="DOID:0060183"} xref: MESH:D046729 {source="MONDO:equivalentTo", source="DOID:0060183"} xref: MeSH:D046729 xref: MONDO:0000703 xref: NCIT:C27021 {source="MONDO:equivalentTo", source="DOID:0060183"} xref: ORDO:Orphanet_36205 xref: Orphanet:36205 {source="MONDO:equivalentObsolete"} xref: SCTID:19311003 {source="MONDO:equivalentTo", source="DOID:0060183"} xref: UMLS:C0238067 {source="NCIT:C27021", source="MONDO:equivalentTo", source="DOID:0060183"} is_a: EFO:1001295 {source="DOID:0060183", source="EFO:1001293", source="MESH:D046729", source="NCIT:C27021"} ! microscopic colitis property_value: closeMatch http://identifiers.org/meddra/10048928 property_value: exactMatch DOID:0060183 property_value: exactMatch http://identifiers.org/mesh/D046729 property_value: exactMatch http://identifiers.org/snomedct/19311003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238067 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K52.831 property_value: exactMatch NCIT:C27021 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6135/collagenous-colitis xsd:anyURI [Term] id: EFO:1001294 name: lymphocytic colitis def: "A subtype of MICROSCOPIC COLITIS, characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. Microscopic examination of biopsy samples taken from the COLON show infiltration of LYMPHOCYTES in the superficial EPITHELIUM and the underlying connective tissue (lamina propria)." [] def: "Microscopic colitis characterized by the accumulation of lymphocytes in the colonic epithelium and lamina propria. Patients present with chronic watery diarrhea. Colonoscopy reveals normal colonic mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples." [NCIT:P378] synonym: "Colitis, Lymphocytic" EXACT [] synonym: "lymphocytic colitis" EXACT [] {comment="preferred label from MONDO"} synonym: "lymphocytic-plasmacytic colitis" EXACT [] xref: DOID:0060184 {source="MONDO:equivalentTo"} xref: DOID:60184 xref: ICD10CM:K52.832 {source="MONDO:equivalentTo"} xref: ICD9:558.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10025268 {source="DOID:0060184"} xref: MESH:D046730 {source="MONDO:equivalentTo", source="DOID:0060184"} xref: MeSH:D046730 xref: MONDO:0000704 xref: NCIT:C27147 {source="MONDO:equivalentTo", source="DOID:0060184"} xref: NCIt:C27147 xref: ORDO:Orphanet_65279 xref: Orphanet:65279 {source="MONDO:equivalentObsolete", source="DOID:0060184"} xref: SCTID:31437008 {source="MONDO:equivalentTo", source="DOID:0060184"} xref: SNOMEDCT:31437008 xref: UMLS:C0400822 {source="NCIT:C27147", source="MONDO:equivalentTo", source="DOID:0060184"} is_a: EFO:1001295 {source="DOID:0060184", source="EFO:1001294", source="MESH:D046730", source="NCIT:C27147"} ! microscopic colitis property_value: closeMatch http://identifiers.org/meddra/10025268 property_value: exactMatch DOID:0060184 property_value: exactMatch http://identifiers.org/mesh/D046730 property_value: exactMatch http://identifiers.org/snomedct/31437008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0400822 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K52.832 property_value: exactMatch NCIT:C27147 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001295 name: microscopic colitis def: "A condition characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. This syndrome was first described in 1980 by Read and associates. Subtypes include COLLAGENOUS COLITIS and LYMPHOCYTIC COLITIS. Both have similar clinical symptoms and are distinguishable only by histology." [] def: "Inflammation of the colon that is only apparent by microscopic examination." [NCIT:P378] synonym: "Colitis, Microscopic" EXACT [] synonym: "microscopic colitis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0060182 {source="MONDO:equivalentTo"} xref: DOID:60182 xref: ICD9:558.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10056979 xref: MESH:D046728 {source="MONDO:equivalentTo", source="DOID:0060182"} xref: MeSH:D046728 xref: MONDO:0000702 xref: NCIT:C38504 {source="MONDO:equivalentTo", source="DOID:0060182"} xref: NCIt:C38504 xref: ORDO:Orphanet_58220 xref: Orphanet:58220 {source="MONDO:equivalentObsolete", source="DOID:0060182"} xref: SCTID:235753003 {source="MONDO:equivalentTo", source="DOID:0060182"} xref: SNOMEDCT:235753003 xref: UMLS:C0400821 {source="MONDO:equivalentTo", source="NCIT:C38504", source="DOID:0060182"} is_a: EFO:0003872 {source="DOID:0060182", source="EFO:1001295", source="MESH:D046728", source="NCIT:C38504"} ! colitis property_value: exactMatch DOID:0060182 property_value: exactMatch http://identifiers.org/mesh/D046728 property_value: exactMatch http://identifiers.org/snomedct/235753003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0400821 property_value: exactMatch NCIT:C38504 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001296 name: colon diverticulum def: "A pouch or sac opening from the COLON." [] synonym: "Diverticulum, Colon" EXACT [] xref: MeSH:D004241 is_a: EFO:0000405 ! digestive system disease property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001297 name: Coronary-Subclavian Steal Syndrome def: "A complication of INTERNAL MAMMARY-CORONARY ARTERY ANASTOMOSIS whereby an occlusion or stenosis of the proximal SUBCLAVIAN ARTERY causes a reversal of the blood flow away from the CORONARY CIRCULATION, through the grafted INTERNAL MAMMARY ARTERY (internal thoracic artery), and back to the distal subclavian distribution." [] xref: MeSH:D058686 xref: SNOMEDCT:234024001 is_a: EFO:0003777 ! heart disease is_a: EFO:0004264 ! vascular disease property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001298 name: Coxa Vara def: "Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental." [MESH:D060905] synonym: "coxa vara" EXACT [MONDO:ambiguous, OMIM:122750] synonym: "coxa vara" EXACT [] {comment="preferred label from MONDO"} synonym: "coxa vara (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "coxa vara, congenital" RELATED [GARD:0008750] xref: HP:0002812 {source="MONDO:otherHierarchy"} xref: MedDRA:10011248 xref: MESH:D060905 {source="MONDO:equivalentTo"} xref: MeSH:D060905 xref: MONDO:0007391 xref: OMIM:122750 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: EFO:0004260 ! bone disease property_value: exactMatch http://identifiers.org/mesh/D060905 property_value: exactMatch https://omim.org/entry/122750 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000589 "coxa vara (disease)" xsd:string [Term] id: EFO:1001299 name: Crush Syndrome def: "Severe systemic manifestation of trauma and ischemia involving soft tissues, principally skeletal muscle, due to prolonged severe crushing. It leads to increased permeability of the cell membrane and to the release of potassium, enzymes, and myoglobin from within cells. Ischemic renal dysfunction secondary to hypotension and diminished renal perfusion results in acute tubular necrosis and uremia." [] synonym: "Bywater's syndrome" EXACT [] synonym: "traumatic rhabdomyolysis" EXACT [] xref: MedDRA:10050702 xref: MeSH:D003444 xref: SNOMEDCT:23697004 is_a: EFO:0003867 ! rhabdomyolysis property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001300 name: Cryptogenic Organizing Pneumonia def: "An interstitial lung disease of unknown etiology, occurring between 21-80 years of age. It is characterized by a dramatic onset of a \"pneumonia-like\" illness with cough, fever, malaise, fatigue, and weight loss. Pathological features include prominent interstitial inflammation without collagen fibrosis, diffuse fibroblastic foci, and no microscopic honeycomb change. There is excessive proliferation of granulation tissue within small airways and alveolar ducts." [] def: "Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia characterized pathologically by organizing pneumonia (OP) that presents with non-specific flu-like symptoms, as well as cough and dyspnea and where no etiological agent is found." [Orphanet:1302] subset: gard_rare subset: ordo_disease {source="Orphanet:1302"} synonym: "bronchiolitis obliterans organising pneumonia" EXACT OMO:0003005 [] synonym: "bronchiolitis obliterans organizing pneumonia" EXACT [DOID:0050157, Orphanet:1302] synonym: "constrictive bronchiolitis" RELATED [GARD:0005961] synonym: "COP" EXACT ABBREVIATION [https://orcid.org/0000-0003-0113-912X, Orphanet:1302] synonym: "cryptogenic organising pneumonitis" EXACT OMO:0003005 [] synonym: "cryptogenic organizing pneumonia" EXACT [] {comment="preferred label from MONDO"} synonym: "cryptogenic organizing pneumonitis" EXACT [DOID:0050157, https://orcid.org/0000-0003-0113-912X] synonym: "idiopathic BOOP" RELATED [GARD:0001620] synonym: "idiopathic bronchiolitis obliterans organising pneumonia" RELATED OMO:0003005 [] synonym: "idiopathic bronchiolitis obliterans organizing pneumonia" RELATED [GARD:0001620] synonym: "idiopathic bronchiolitis obliterans with organising pneumonia" EXACT OMO:0003005 [] synonym: "idiopathic bronchiolitis obliterans with organizing pneumonia" EXACT [DOID:0050157] synonym: "organising pneumonia" EXACT OMO:0003005 [] synonym: "organizing pneumonia" EXACT [GARD:0005961] xref: DOID:0050157 {source="MONDO:equivalentTo"} xref: DOID:2798 xref: ICD10:J84.116 xref: ICD10CM:J84.116 {source="DOID:0050157", source="MONDO:equivalentTo"} xref: ICD9:516.36 {source="DOID:0050157"} xref: MedDRA:10011496 xref: MESH:D018549 {source="DOID:0050157", source="MONDO:equivalentTo", source="Orphanet:1302", source="Orphanet:1302/e"} xref: MeSH:D018549 xref: MONDO:0015264 xref: NCIT:C62586 {source="DOID:0050157", source="MONDO:equivalentTo"} xref: NCIt:C62586 xref: Orphanet:1302 {source="MONDO:equivalentTo"} xref: SCTID:68409003 {source="MONDO:equivalentTo"} xref: SCTID:719218000 {source="MONDO:equivalentTo"} xref: UMLS:C0242770 {source="GARD:0005961", source="DOID:0050157", source="MONDO:equivalentTo", source="Orphanet:1302", source="NCIT:C62586"} is_a: MONDO:0002429 {source="DOID:0050157", source="MESH:D018549", source="Orphanet:1302"} ! idiopathic interstitial pneumonia property_value: exactMatch DOID:0050157 property_value: exactMatch http://identifiers.org/mesh/D018549 property_value: exactMatch http://identifiers.org/snomedct/68409003 property_value: exactMatch http://identifiers.org/snomedct/719218000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242770 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/J84.116 property_value: exactMatch NCIT:C62586 property_value: exactMatch Orphanet:1302 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4417 xsd:anyURI [Term] id: EFO:1001301 name: Cubital Tunnel Syndrome def: "Compression of the ULNAR NERVE in the cubital tunnel, which is formed by the two heads of the flexor carpi ulnaris muscle, humeral-ulnar aponeurosis, and medial ligaments of the elbow. This condition may follow trauma or occur in association with processes which produce nerve enlargement or narrowing of the canal. Manifestations include elbow pain and PARESTHESIA radiating distally, weakness of ulnar innervated intrinsic hand muscles, and loss of sensation over the hypothenar region, fifth finger, and ulnar aspect of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43)" [] xref: MedDRA:10056473 xref: MeSH:D020430 xref: SNOMEDCT:56177003 is_a: EFO:0000618 ! nervous system disease property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001302 name: Cytomegalovirus Retinitis def: "Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in AIDS patients and can cause blindness." [] def: "Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in aids patients and can cause blindness." [MESH:D017726] subset: gard_rare {source="GARD:0009531"} synonym: "CMV retinitis" EXACT [DOID:0080160] synonym: "Cytomegaloviral Retinitis" EXACT [NCIT:C50521] synonym: "Cytomegalovirus caused retinitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Cytomegalovirus retinitis" EXACT [] synonym: "cytomegalovirus retinitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Retinitis, Cytomegaloviral" EXACT [NCIT:C50521] xref: DOID:0080160 {source="MONDO:equivalentTo"} xref: MedDRA:10011835 xref: MESH:D017726 {source="MONDO:equivalentTo", source="DOID:0080160"} xref: MeSH:D017726 xref: MONDO:0000878 xref: NCIT:C50521 {source="MONDO:equivalentTo"} xref: SCTID:22455005 {source="MONDO:equivalentTo"} xref: SNOMEDCT:22455005 xref: UMLS:C0206178 {source="MONDO:equivalentTo", source="GARD:0009531"} is_a: EFO:0001062 {source="MESH:D017726", source="MONDO:Redundant", source="NCIT:C50521"} ! cytomegalovirus infection is_a: MONDO:0002708 {source="DOID:0080160", source="MESH:D017726", source="MONDO:Redundant", source="NCIT:C50521"} ! retinitis is_a: MONDO:0016047 ! endophthalmitis is_a: MONDO:0020010 ! infectious disorder of the nervous system is_a: MONDO:0020950 ! viral eye infection property_value: exactMatch DOID:0080160 property_value: exactMatch http://identifiers.org/mesh/D017726 property_value: exactMatch http://identifiers.org/snomedct/22455005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206178 property_value: exactMatch NCIT:C50521 property_value: IAO:0000117 "Dani Welter" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9531/cytomegalovirus-retinitis xsd:anyURI {source="GARD:0009531"} [Term] id: EFO:1001303 name: Deltaretrovirus Infections def: "Infections caused by the HTLV or BLV deltaretroviruses. They include human T-cell leukemia-lymphoma (LEUKEMIA-LYMPHOMA, T-CELL, ACUTE, HTLV-I-ASSOCIATED)." [MESH:D006800] synonym: "BLV infection" RELATED [MESH:D006800] synonym: "BLV infections" RELATED [MESH:D006800] synonym: "Deltaretrovirus infection" RELATED [MESH:D006800] synonym: "deltaretrovirus infections" EXACT [] {comment="preferred label from MONDO"} synonym: "HTLV BLV infections" RELATED [MESH:D006800] synonym: "HTLV infection" RELATED [MESH:D006800] synonym: "HTLV infections" RELATED [MESH:D006800] synonym: "HTLV-BLV infection" RELATED [MESH:D006800] synonym: "HTLV-BLV infections" RELATED [MESH:D006800] synonym: "infection, Deltaretrovirus" RELATED [MESH:D006800] synonym: "infections, Deltaretrovirus" RELATED [MESH:D006800] xref: DOID:616 xref: MESH:D006800 {source="MONDO:equivalentTo"} xref: MeSH:D006800 xref: MONDO:0021184 is_a: MONDO:0100329 ! primary viral infectious disease property_value: exactMatch http://identifiers.org/mesh/D006800 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001304 name: Dental enamel hypoplasia def: "An acquired or hereditary condition due to deficiency in the formation of tooth enamel (AMELOGENESIS). It is usually characterized by defective, thin, or malformed DENTAL ENAMEL. Risk factors for enamel hypoplasia include gene mutations, nutritional deficiencies, diseases, and environmental factors." [] def: "Deficiency in the enamel tissue that results in the formation of grooves, pits, or dents on the surface of the affected teeth." [NCIT:P378] synonym: "dental enamel hypoplasia" EXACT [] {comment="preferred label from MONDO"} synonym: "enamel hypoplasia" EXACT [DOID:693, NCIT:C34529] xref: DOID:693 {source="MONDO:equivalentTo"} xref: MESH:D003744 {source="MONDO:equivalentTo", source="DOID:693"} xref: MeSH:D003744 xref: MONDO:0004038 xref: NCIT:C34529 {source="MONDO:equivalentTo", source="DOID:693"} xref: SCTID:26597004 {source="MONDO:equivalentTo", source="DOID:693"} xref: UMLS:C0011351 {source="NCIT:C34529", source="MONDO:equivalentTo", source="DOID:693"} is_a: MONDO:0002220 {source="DOID:693"} ! tooth hard tissue disease property_value: exactMatch DOID:693 property_value: exactMatch http://identifiers.org/mesh/D003744 property_value: exactMatch http://identifiers.org/snomedct/26597004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011351 property_value: exactMatch NCIT:C34529 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001305 name: Dermatitis, Perioral def: "A papular eruption of unknown etiology that progresses to residual papular erythema and scaling usually confined to the area of the mouth, and almost exclusively occurring in young women. It may also be localized or extend to involve the eyelids and adjacent glabella area of the forehead (periocular dermatitis). (Dorland, 28th ed)" [] xref: ICD10:L71.0 xref: MedDRA:10034541 xref: MeSH:D019557 xref: SNOMEDCT:238751002 is_a: EFO:1000698 ! facial dermatosis property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001306 name: Diarrhea, Infantile def: "DIARRHEA occurring in infants from newborn to 24-months old." [] xref: MeSH:D003968 xref: OMIM:618168 is_a: HP:0002014 ! Diarrhea property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001307 name: dumping syndrome def: "A disorder of the gastrointestinal tract. It is typically caused by the rapid emptying of undigested food from the stomach to the small intestine following gastroesophageal surgery but may be seen secondary to diabetes or the use of certain medications. Clinical signs may be seen 30-60 minutes after eating (early dumping): cramping, nausea, vomiting and diarrhea or they may be seen 1-3 hours later as a result of hyperinsulinemic hypoglycemia (late dumping): sweating, dizziness, confusion and heart palpitations. Untreated, the clinical course progresses to malnutrition and weight loss." [NCIT:P378] def: "Gastrointestinal symptoms resulting from an absent or nonfunctioning pylorus." [] synonym: "Dumping (jejunal) syndrome" EXACT [] synonym: "dumping (jejunal) syndrome" EXACT [DOID:14495] synonym: "Dumping Syndrome" EXACT [] synonym: "dumping syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Jejunal syndrome" EXACT [] synonym: "jejunal syndrome" EXACT [DOID:14495] xref: DOID:14495 {source="MONDO:equivalentTo"} xref: MedDRA:10013810 xref: MESH:D004377 {source="MONDO:equivalentTo", source="DOID:14495"} xref: MeSH:D004377 xref: MONDO:0001979 xref: NCIT:C2994 {source="MONDO:equivalentTo", source="DOID:14495"} xref: NCIt:C2994 xref: UMLS:C0013288 {source="MONDO:equivalentTo", source="DOID:14495", source="NCIT:C2994"} is_a: MONDO:0002254 {source="NCIT:C2994"} ! syndromic disease is_a: MONDO:0004566 {source="DOID:14495", source="MESH:D004377"} ! postgastrectomy syndrome property_value: exactMatch DOID:14495 property_value: exactMatch http://identifiers.org/mesh/D004377 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013288 property_value: exactMatch NCIT:C2994 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001308 name: Embolism, Paradoxical def: "Blockage of an artery due to passage of a clot (THROMBUS) from a systemic vein to a systemic artery without its passing through the lung which acts as a filter to remove blood clots from entering the arterial circulation. Paradoxical embolism occurs when there is a defect that allows a clot to cross directly from the right to the left side of the heart as in the cases of ATRIAL SEPTAL DEFECTS or open FORAMEN OVALE. Once in the arterial circulation, a clot can travel to the brain, block an artery, and cause a STROKE." [] xref: MeSH:D019320 is_a: EFO:0004264 ! vascular disease property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001309 name: Encephalitis, Tick-Borne def: "Encephalitis caused by neurotropic viruses that are transmitted via the bite of TICKS. In Europe, the diseases are caused by ENCEPHALITIS VIRUSES, TICK-BORNE, which give rise to Russian spring-summer encephalitis, central European encephalitis, louping ill encephalitis, and related disorders. Powassan encephalitis occurs in North America and Russia and is caused by the Powassan virus. ASEPTIC MENINGITIS and rarely encephalitis may complicate COLORADO TICK FEVER which is endemic to mountainous regions of the western United States. (From Joynt, Clinical Neurology, 1996, Ch26, pp14-5)" [] def: "Tick-borne encephalitis is caused by an arbovirus of the Flaviviridae family (tick-borne encephalitis virus, TBEV), transmitted principally by the bite of the Ixodes ricinus tick. The symptomology is biphasic, with the initial phase being associated with a flu-like illness and the second phase (occurring in less than 10% of patients) with symptoms of meningitis or, more rarely, meningoencephalitis." [Orphanet:297] subset: gard_rare {source="GARD:0005216"} subset: ordo_disease {source="Orphanet:297"} synonym: "central European encephalitis" EXACT [DOID:0050175] synonym: "Far Eastern TBE" EXACT [DOID:0050175] synonym: "Russian spring-summer encephalitis" EXACT [DOID:0050175] synonym: "Siberian tick-borne encephalitis" EXACT [DOID:0050175] synonym: "taiga encephalitis" EXACT [DOID:0050175] synonym: "TBE" EXACT ABBREVIATION [Orphanet:297] synonym: "tick-borne encephalitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Tick-borne viral encephalitis" EXACT [NCIT:C34579] synonym: "tick-borne viral encephalitis" EXACT [] synonym: "west-Siberian encephalitis" EXACT [DOID:0050175] synonym: "Western European tick-borne encephalitis" EXACT [DOID:0050175] xref: DOID:0050175 {source="MONDO:equivalentTo"} xref: DOID:50175 xref: ICD10:A84.9 xref: ICD9:063.2 {source="DOID:0050175"} xref: ICD9:063.9 xref: MedDRA:10043847 xref: MedDRA:10043848 {source="Orphanet:297/e", source="Orphanet:297"} xref: MESH:D004675 {source="Orphanet:297/e", source="MONDO:equivalentTo", source="Orphanet:297", source="DOID:0050175"} xref: MeSH:D004675 xref: MONDO:0017572 xref: NCIT:C34579 {source="MONDO:equivalentTo"} xref: Orphanet:297 {source="MONDO:equivalentTo"} xref: UMLS:C0014061 {source="Orphanet:297/e", source="MONDO:equivalentTo", source="Orphanet:297"} is_a: EFO:0007538 {source="MONDO:Redundant", source="NCIT:C34579", source="Orphanet:297"} ! viral encephalitis is_a: MONDO:0025294 ! tick-borne infectious disease property_value: closeMatch http://identifiers.org/meddra/10043848 property_value: exactMatch DOID:0050175 property_value: exactMatch http://identifiers.org/mesh/D004675 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014061 property_value: exactMatch NCIT:C34579 property_value: exactMatch Orphanet:297 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5216/tick-borne-encephalitis xsd:anyURI {source="GARD:0005216"} [Term] id: EFO:1001310 name: Encephalitis, Varicella Zoster def: "Inflammation of brain tissue caused by infection with the varicella-zoster virus (HERPESVIRUS 3, HUMAN). This condition is associated with immunocompromised states, including the ACQUIRED IMMUNODEFICIENCY SYNDROME. Pathologically, the virus tends to induce a vasculopathy and infect oligodendrocytes and ependymal cells, leading to CEREBRAL INFARCTION, multifocal regions of demyelination, and periventricular necrosis. Manifestations of varicella encephalitis usually occur 5-7 days after onset of HERPES ZOSTER and include HEADACHE; VOMITING; lethargy; focal neurologic deficits; FEVER; and COMA. (From Joynt, Clinical Neurology, 1996, Ch 26, pp29-32; Hum Pathol 1996 Sep;27(9):927-38)" [] xref: DOID:50182 xref: MeSH:D020804 is_a: EFO:0001423 ! encephalomyelitis property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001311 name: End Stage Liver Disease def: "Final stage of a liver disease when the liver failure is irreversible and LIVER TRANSPLANTATION is needed." [] xref: MedDRA:10050060 xref: MeSH:D058625 xref: NCIt:C84428 xref: SNOMEDCT:708248004 is_a: EFO:0001421 ! liver disease property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001312 name: Endometritis def: "An acute or chronic, usually bacterial infectious process affecting the endometrium. It may extend to the myometrium and parametrial tissues. Symptoms include lower abdominal pain, vaginal discharge, and vaginal bleeding." [NCIT:P378] def: "Inflammation of the ENDOMETRIUM, usually caused by intrauterine infections. Endometritis is the most common cause of postpartum fever." [] synonym: "endometritis" EXACT [] {comment="preferred label from MONDO"} synonym: "endometrium inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "inflammation of endometrium" EXACT [] synonym: "uterine infection" EXACT [NCIT:C26764] xref: DOID:1002 {source="MONDO:equivalentTo"} xref: MedDRA:10014791 xref: MESH:D004716 {source="DOID:1002", source="MONDO:equivalentTo"} xref: MeSH:D004716 xref: MONDO:0000918 xref: NCIT:C26764 {source="DOID:1002", source="MONDO:equivalentTo"} xref: SCTID:78623009 {source="DOID:1002", source="MONDO:equivalentTo"} xref: SNOMEDCT:78623009 xref: UMLS:C0014179 {source="DOID:1002", source="MONDO:equivalentTo", source="NCIT:C26764"} is_a: EFO:0009903 ! inflammatory disease is_a: MONDO:0000931 {source="DOID:1002", source="MONDO:Redundant", source="NCIT:C26764"} ! endometrial disorder relationship: RO:0000056 GO:0006954 ! participates_in inflammatory response property_value: exactMatch DOID:1002 property_value: exactMatch http://identifiers.org/mesh/D004716 property_value: exactMatch http://identifiers.org/snomedct/78623009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014179 property_value: exactMatch NCIT:C26764 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001313 name: Enterobacteriaceae Infections def: "Infections with bacteria of the family ENTEROBACTERIACEAE." [] xref: DOID:50360 xref: MeSH:D004756 is_a: EFO:0000771 ! bacterial disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001314 name: pseudomembranous enterocolitis def: "An acute inflammation of the INTESTINAL MUCOSA that is characterized by the presence of pseudomembranes or plaques in the SMALL INTESTINE (pseudomembranous enteritis) and the LARGE INTESTINE (pseudomembranous colitis). It is commonly associated with antibiotic therapy and CLOSTRIDIUM DIFFICILE colonization." [] synonym: "Enterocolitis, Pseudomembranous" EXACT [] xref: MedDRA:10037130 xref: MeSH:D004761 is_a: EFO:1001481 ! enterocolitis relationship: RO:0000056 GO:0006954 ! participates_in inflammatory response property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001315 name: Enzootic Bovine Leukosis def: "A lymphoid neoplastic disease in cattle caused by the bovine leukemia virus. Enzootic bovine leukosis may take the form of lymphosarcoma, malignant lymphoma, or leukemia but the presence of malignant cells in the blood is not a consistent finding." [] xref: MeSH:D016583 xref: SNOMEDCT:38857005 is_a: EFO:0005932 ! animal disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001316 name: Eosinophilia-Myalgia Syndrome def: "A complex systemic syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart. Diagnostic features generally include EOSINOPHILIA, myalgia severe enough to limit usual activities of daily living, and the absence of coexisting infectious, autoimmune or other conditions that may induce eosinophilia. Biopsy of affected tissue reveals a microangiopathy associated with diffuse inflammation involving connective tissue. (From Spitzer et al., J Rheumatol Suppl 1996 Oct;46:73-9; Blackburn WD, Semin Arthritis Rheum 1997 Jun;26(6):788-93)" [] def: "A complex systemic syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart. Diagnostic features generally include eosinophilia, myalgia severe enough to limit usual activities of daily living, and the absence of coexisting infectious, autoimmune or other conditions that may induce eosinophilia. Biopsy of affected tissue reveals a microangiopathy associated with diffuse inflammation involving connective tissue. (From Spitzer et al., J Rheumatol Suppl 1996 Oct;46:73-9; Blackburn wd, Semin Arthritis Rheum 1997 Jun;26(6):788-93)" [MESH:D016603] subset: gard_rare {source="GARD:0006345"} synonym: "EMS" RELATED ABBREVIATION [GARD:0006345] synonym: "eosinophilia myalgia syndrome" EXACT [DOID:998, ICD9CM:710.5] synonym: "eosinophilia-myalgia syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "L-tryptophan induced EMS" RELATED [GARD:0006345] synonym: "severe muscle pain and abnormally high eosinophils" RELATED [GARD:0006345] synonym: "syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart" RELATED [GARD:0006345] xref: DOID:998 {source="MONDO:equivalentTo"} xref: ICD9:710.5 {source="DOID:998", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D016603 {source="DOID:998", source="MONDO:equivalentTo"} xref: MeSH:D016603 xref: MONDO:0004941 xref: SCTID:95416007 {source="DOID:998", source="MONDO:equivalentTo"} is_a: EFO:0005140 ! autoimmune disease is_a: EFO:1001467 {source="DOID:998"} ! Hypereosinophilic syndrome property_value: exactMatch DOID:998 property_value: exactMatch http://identifiers.org/mesh/D016603 property_value: exactMatch http://identifiers.org/snomedct/95416007 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6345/eosinophilia-myalgia-syndrome xsd:anyURI {source="GARD:0006345"} [Term] id: EFO:1001317 name: Epiphyses, Slipped def: "One of the most common adolescent hip disorders and represents a unique type of instability of the proximal femoral growth plate. Four separate clinical groups are seen: Pre-slip (wide epiphyseal line without slippage), acute form (10-15% - slippage occurs suddenly, normally spontaneous), acute-on-chronic (slippage occurs acutely where there is already existing chronic slip) and chronic (85% - steadily progressive slippage, the most common form)." [] synonym: "epiphysis, slipped" EXACT [] synonym: "SCFE" EXACT [] synonym: "slipped capital femoral epiphysis" EXACT [] synonym: "slipped disc" EXACT [] synonym: "slipped epiphyese" EXACT [] synonym: "slipped epiphysis" EXACT [] xref: MedDRA:10041026 xref: MeSH:D004839 is_a: EFO:0004260 ! bone disease property_value: definition:citation http://patient.info/doctor/slipped-capital-femoral-epiphysis-pro xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001318 name: Escherichia coli Infections def: "Infection with the organism Escherichia Coli." [NCIT:C34594] def: "Infections with bacteria of the species ESCHERICHIA COLI." [] synonym: "Bacterial infection caused by E. coli" RELATED [UMLS:C0014836] synonym: "Bacterial infection due to E. coli" RELATED [UMLS:C0014836] synonym: "Colibacillosis" RELATED [UMLS:C0014836] synonym: "E COLI INFECT" RELATED [MESH:D004927] synonym: "E Coli Infection" RELATED [NCIT:C34594] synonym: "E coli Infection" RELATED [MESH:D004927] synonym: "e coli infection" EXACT [NCIT:C34594] synonym: "E coli Infections" RELATED [MESH:D004927] synonym: "E coli infections" RELATED [GTR:AN0485754, HP:0002740] synonym: "E coli infections, recurrent" RELATED [GTR:AN0485755, HP:0002740] synonym: "E. coli Infection" RELATED [MESH:D004927] synonym: "E. coli infection" RELATED [UMLS:C0014836] synonym: "E. coli Infections" RELATED [MESH:D004927] synonym: "ESCHERICHIA COLI INFECT" RELATED [MESH:D004927] synonym: "Escherichia Coli Infection" RELATED [NCIT:C34594] synonym: "Escherichia coli Infection" RELATED [MESH:D004927] synonym: "Escherichia coli infection" RELATED [UMLS:C0014836] synonym: "escherichia coli infection" EXACT [] {comment="preferred label from MONDO"} synonym: "escherichia coli infection" EXACT [NCIT:C34594] synonym: "Escherichia coli Infections" RELATED [MESH:D004927] synonym: "INFECT E COLI" RELATED [MESH:D004927] synonym: "INFECT ESCHERICHIA COLI" RELATED [MESH:D004927] synonym: "Infection caused by Escherichia coli" RELATED [UMLS:C0014836] synonym: "Infection due to Escherichia coli" RELATED [UMLS:C0014836] synonym: "Infection, E coli" RELATED [MESH:D004927] synonym: "Infection, E. coli" RELATED [MESH:D004927] synonym: "Infection, Escherichia coli" RELATED [MESH:D004927] synonym: "Infections, E coli" RELATED [MESH:D004927] synonym: "Infections, Escherichia coli" RELATED [MESH:D004927] synonym: "Recurrent E. coli infections" RELATED [GTR:AN0474198, HP:0002740] xref: DOID:0050478 xref: GTR:AN0474198 {source="UMLS:C0014836"} xref: GTR:AN0485754 {source="UMLS:C0014836"} xref: GTR:AN0485755 {source="UMLS:C0014836"} xref: HP:0002740 {source="UMLS:C0014836"} xref: MESH:D004927 {source="MONDO:equivalentTo", source="UMLS:C0014836"} xref: MeSH:D004927 xref: MONDO:0020920 xref: NCIT:C34594 {source="MONDO:equivalentTo", source="UMLS:C0014836"} xref: SCTID:71057007 {source="MONDO:equivalentTo", source="UMLS:C0014836"} xref: UMLS:C0014836 {source="MONDO:equivalentTo"} is_a: EFO:0000771 {source="NCIT:C34594", source="UMLS:C0014836"} ! bacterial disease property_value: exactMatch http://identifiers.org/mesh/D004927 property_value: exactMatch http://identifiers.org/snomedct/71057007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014836 property_value: exactMatch NCIT:C34594 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001319 name: Euglenozoa Infections def: "Infections with the protozoa of the phylum EUGLENOZOA." [] xref: MeSH:D056986 is_a: EFO:0001067 ! parasitic infection property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001320 name: Exanthema Subitum def: "An acute, short-lived, viral disease of infants and young children characterized by a high fever at onset that drops to normal after 3-4 days and the concomitant appearance of a macular or maculopapular rash that appears first on the trunk and then spreads to other areas. It is the sixth of the classical exanthematous diseases and is caused by HHV-6; (HERPESVIRUS 6, HUMAN). (From Dorland, 27th ed)" [] def: "An infection that is due to human herpesvirus (HHV) types 6 or 7; it is characterized by 3-5 days of high fever followed by the acute onset of a rosy, pink, non-pruritic, macular rash that is predominantly on the neck and trunk." [NCIT:C128420] synonym: "exanthem subitum" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK448190/, NCIT:C128420] synonym: "exanthema subitum" EXACT [] {comment="preferred label from MONDO"} synonym: "pseudorubella" RELATED [] synonym: "roseola" EXACT [NCIT:C128420] synonym: "roseola Infantum" EXACT [DOID:0050495, https://www.ncbi.nlm.nih.gov/books/NBK448190/] synonym: "sixth disease" EXACT [DOID:0050495, https://www.ncbi.nlm.nih.gov/books/NBK448190/] xref: DOID:0050495 {source="MONDO:equivalentTo"} xref: ICD10:B08.2 xref: ICD9:057.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:058.1 {source="DOID:0050495"} xref: ICD9:058.10 {source="DOID:0050495"} xref: MedDRA:10015586 xref: MESH:D005077 {source="DOID:0050495", source="MONDO:equivalentTo"} xref: MeSH:D005077 xref: MONDO:0000337 xref: NCIT:C128420 {source="MONDO:equivalentTo"} xref: SCTID:54385001 {source="DOID:0050495", source="MONDO:equivalentTo"} xref: SNOMEDCT:54385001 xref: UMLS:C0015231 {source="DOID:0050495", source="MONDO:equivalentTo"} xref: UMLS:C0595993 {source="NCIT:C128420", source="MONDO:equivalentTo"} is_a: EFO:0000763 {source="DOID:0050495", source="EFO:1001320", source="MESH:D005077/inferred", source="MONDO:Redundant", source="NCIT:C128420"} ! viral disease is_a: EFO:1000697 {source="MESH:D005077", source="MONDO:cjm"} ! exanthem is_a: MONDO:0024294 ! skin disorder caused by infection property_value: exactMatch DOID:0050495 property_value: exactMatch http://identifiers.org/mesh/D005077 property_value: exactMatch http://identifiers.org/snomedct/54385001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015231 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0595993 property_value: exactMatch NCIT:C128420 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001321 name: extrinsic allergic alveolitis def: "A common interstitial lung disease caused by hypersensitivity reactions of PULMONARY ALVEOLI after inhalation of and sensitization to environmental antigens of microbial, animal, or chemical sources. The disease is characterized by lymphocytic alveolitis and granulomatous pneumonitis." [] synonym: "Alveolitis, Extrinsic Allergic" EXACT [] xref: DOID:841 xref: ICD9:495 xref: MedDRA:10015887 xref: MeSH:D000542 xref: NCIt:C34369 xref: SNOMEDCT:37471005 is_a: MONDO:0005271 ! allergic disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001322 name: eye foreign body def: "Inanimate objects that become enclosed in the eye." [] xref: MeSH:D005129 is_a: EFO:0003966 ! eye disease is_a: EFO:0009525 ! foreign body property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001323 name: Eye Injuries, Penetrating def: "Deeply perforating or puncturing type intraocular injuries." [] xref: MedDRA:10034284 xref: MeSH:D015807 xref: SNOMEDCT:315296002 is_a: EFO:0003966 ! eye disease property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001324 name: Fascioliasis def: "A parasitic infection that is caused by liver flukes, usually Fasciola hepatica, of sheep, goats, and cattle. Humans become infected by eating uncooked, infested aquatic vegetation (classically watercress). adult flukes inhabit the bile ducts, gallbladder, and occasionally ectopic sites. Symptoms arise secondary to inflammatory response or obstruction." [NCIT:C128387] def: "Liver disease caused by infections with parasitic flukes of the genus FASCIOLA, such as FASCIOLA HEPATICA." [] subset: gard_rare {source="GARD:0006428"} synonym: "fasciola hepatica infection" EXACT [DOID:885] synonym: "fascioliasis" EXACT [] {comment="preferred label from MONDO"} synonym: "Fasciolosis" EXACT [NCIT:C128387] synonym: "infection by fasciola" EXACT [DOID:885] synonym: "liver flukes" EXACT [DOID:885] synonym: "sheep liver fluke infection" EXACT [DOID:885] xref: DOID:885 {source="MONDO:equivalentTo"} xref: ICD10:B66.3 xref: ICD10CM:B66.3 {source="DOID:885", source="MONDO:equivalentTo"} xref: ICD9:121.3 {source="DOID:885"} xref: MedDRA:10016234 xref: MESH:D005211 {source="DOID:885", source="MONDO:equivalentTo"} xref: MeSH:D005211 xref: MONDO:0004668 xref: NCIT:C128387 {source="MONDO:equivalentTo"} xref: SCTID:82308007 {source="MONDO:equivalentTo"} xref: SNOMEDCT:111922007 xref: UMLS:C0015652 {source="DOID:885", source="NCIT:C128387", source="MONDO:equivalentTo"} xref: UMLS:C1331532 {source="MONDO:equivalentTo"} is_a: EFO:1001342 {source="DOID:885", source="ICD10CM:B66.3/inferred", source="MESH:D005211/inferred"} ! Helminthiasis relationship: disease_has_feature EFO:1000697 {source="MONDO:Wikidata"} ! exanthem relationship: disease_has_feature MONDO:0002280 {source="MONDO:Wikidata"} ! anemia property_value: exactMatch DOID:885 property_value: exactMatch http://identifiers.org/mesh/D005211 property_value: exactMatch http://identifiers.org/snomedct/82308007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015652 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1331532 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B66.3 property_value: exactMatch NCIT:C128387 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6428/fascioliasis xsd:anyURI {source="GARD:0006428"} [Term] id: EFO:1001325 name: abdominal fibromatosis def: "A relatively large mass of unusually firm scarlike connective tissue resulting from active participation of fibroblasts, occurring most frequently in the abdominal muscles of women who have borne children. The fibroblasts infiltrate surrounding muscle and fascia. (Stedman, 25th ed)" [] synonym: "Fibromatosis, Abdominal" EXACT [] xref: MedDRA:10059354 xref: MeSH:D018221 is_a: EFO:0002424 ! fibroma property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001326 name: Flavivirus Infections def: "Infections with viruses of the genus FLAVIVIRUS, family FLAVIVIRIDAE." [] xref: DOID:993 xref: MeSH:D018177 is_a: EFO:0000763 ! viral disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001327 name: Flavobacteriaceae Infections def: "Infections with bacteria of the family FLAVOBACTERIACEAE." [] xref: DOID:50364 xref: MeSH:D045826 is_a: EFO:0000771 ! bacterial disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001328 name: fluoride poisoning def: "Fluoride toxicity is characterized by a variety of signs and symptoms. In the United States, poisoning most commonly follows ingestion (accidental or intentional) of fluoride-containing products. Symptom onset usually occurs within minutes of exposure, but may be delayed. Manifestations of fluoride toxicity are predominantly gastrointestinal (GI), but neurologic and cardiovascular effects also occur (see Presentation). Long-term exposure to fluoride through elevated levels in drinking water leads to skeletal and dental fluorosis." [] synonym: "fluoride toxicity" EXACT [] xref: MeSH:D005458 xref: Wikipedia:Fluoride_toxicity is_a: EFO:1001518 ! heavy metal poisoning property_value: definition:citation http://emedicine.medscape.com/article/814774-overview xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001329 name: Follicular Cyst def: "Cyst due to the occlusion of the duct of a follicle or small gland." [] xref: ICD10:L72 xref: MeSH:D005497 xref: SNOMEDCT:103614000 is_a: EFO:1000763 ! sebaceous gland disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001330 name: Foster-Kennedy syndrome def: "Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visual acuity and contrast sensitivity, impaired color vision, and an afferent pupillary defect." [MESH:D009901] synonym: "Foster-Kennedy syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Optic Nerve Diseases" EXACT [] xref: DOID:14555 {source="MONDO:equivalentTo"} xref: ICD10:H47.14 xref: ICD9:377.04 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14555"} xref: MedDRA:10017065 xref: MeSH:D009901 xref: MONDO:0001998 xref: SCTID:87764000 {source="MONDO:equivalentTo", source="DOID:14555"} xref: SNOMEDCT:87764000 xref: UMLS:C0152112 {source="MONDO:equivalentTo", source="DOID:14555"} is_a: MONDO:0002003 {source="DOID:14555"} ! papilledema property_value: exactMatch DOID:14555 property_value: exactMatch http://identifiers.org/snomedct/87764000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152112 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001331 name: Genital neoplasm, female def: "A primary or metastatic malignant neoplasm involving the female reproductive system. Representative examples include endometrial carcinoma, cervical carcinoma, ovarian carcinoma, uterine corpus leiomyosarcoma, adenosarcoma, malignant mixed mesodermal (mullerian) tumor, and gestational choriocarcinoma." [NCIT:C4913] synonym: "cancer of female reproductive organ" EXACT [MONDO:patterns/cancer] synonym: "female reproductive cancer" EXACT [DOID:120, NCIT:C4913] synonym: "female reproductive organ cancer" EXACT [] {comment="preferred label from MONDO"} synonym: "female reproductive organ cancer" EXACT [MONDO:patterns/location] synonym: "female reproductive organ cancer" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "gynecologic cancer" EXACT [NCIT:C4913] synonym: "malignant female reproductive organ neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant female reproductive system neoplasm" EXACT [NCIT:C4913] synonym: "malignant female reproductive system tumor" EXACT [NCIT:C4913] synonym: "malignant female reproductive system tumour" EXACT OMO:0003005 [] synonym: "malignant gynecologic neoplasm" EXACT [NCIT:C4913] synonym: "malignant gynecologic tumor" EXACT [DOID:120, NCIT:C4913] synonym: "malignant gynecologic tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of female genital organ" EXACT [DOID:120] synonym: "malignant neoplasm of female reproductive organ" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of female reproductive system" EXACT [NCIT:C4913] synonym: "malignant neoplasm of the female reproductive system" EXACT [NCIT:C4913] synonym: "malignant tumor of female reproductive system" EXACT [NCIT:C4913] synonym: "malignant tumor of the female reproductive system" EXACT [NCIT:C4913] synonym: "malignant tumour of female reproductive system" EXACT OMO:0003005 [] synonym: "malignant tumour of the female reproductive system" EXACT OMO:0003005 [] xref: DOID:120 {source="MONDO:equivalentTo"} xref: ICD10:C51.C58 {source="MONDO:equivalentTo"} xref: ICD10:C57 {source="DOID:120"} xref: ICD10CM:C51-C58 {source="MONDO:equivalentTo"} xref: ICD9:184 {source="DOID:120"} xref: MONDO:0001416 xref: NCIT:C4913 {source="MONDO:equivalentTo", source="DOID:120"} xref: SCTID:126907002 {source="MONDO:equivalentTo", source="DOID:120"} is_a: MONDO:0002149 {source="DOID:120", source="MONDO:Redundant", source="NCIT:C4913"} ! reproductive system cancer is_a: MONDO:0021148 {source="MONDO:Redundant", source="NCIT:C4913"} ! female reproductive system neoplasm property_value: closeMatch http://identifiers.org/snomedct/188207007 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153585 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0699889 property_value: exactMatch DOID:120 property_value: exactMatch DOID:120 property_value: exactMatch http://identifiers.org/snomedct/126907002 property_value: exactMatch http://identifiers.org/snomedct/126907002 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/C51-C58 property_value: exactMatch NCIT:C4913 property_value: exactMatch NCIT:C4913 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/cancer.yaml [Term] id: EFO:1001332 name: Giant Lymph Node Hyperplasia def: "Large benign, hyperplastic lymph nodes. The more common hyaline vascular subtype is characterized by small hyaline vascular follicles and interfollicular capillary proliferations. Plasma cells are often present and represent another subtype with the plasma cells containing IgM and IMMUNOGLOBULIN A." [] xref: MeSH:D005871 xref: SNOMEDCT:238809002 is_a: EFO:0007352 ! lymphatic system disease property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001333 name: Glycogen Storage Disease Type 2b def: "A lysosomal glycogen storage disease characterized by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit." [https://orcid.org/0000-0001-5208-3432, Orphanet:34587] def: "An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." [] subset: gard_rare {source="GARD:0009730"} subset: ordo_disease {source="Orphanet:34587"} synonym: "ANTOPOL disease" EXACT [DOID:0050437] synonym: "Antopol disease" RELATED [OMIM:300257] synonym: "Danon disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Danon disease" EXACT [OMIM:300257, Orphanet:34587] synonym: "Danon disease, X-linked dominant" EXACT [OMIM:300257, OMIM:genemap2] synonym: "glycogen storage cardiomyopathy" RELATED [GARD:0009730] synonym: "glycogen storage disease due to LAMP-2 deficiency" RELATED [Orphanet:34587] synonym: "glycogen storage disease IIb" RELATED [OMIM:300257] synonym: "glycogen storage disease limited to the heart" RELATED [GARD:0009730] synonym: "glycogen storage disease type 2b (formerly)" RELATED [GARD:0009730] synonym: "Glycogen Storage Disease Type IIb" EXACT [] synonym: "glycogen storage disease type IIb" EXACT [NCIT:C84735] synonym: "glycogenosis due to LAMP-2 deficiency" EXACT [Orphanet:34587] synonym: "GSD due to LAMP-2 deficiency" EXACT [Orphanet:34587] synonym: "GSD IIb" RELATED [OMIM:300257] synonym: "GSD IIb, formerly" RELATED [OMIM:300257] synonym: "GSD2B (formerly)" RELATED [GARD:0009730] synonym: "LAMP2 lysosomal glycogen storage disease" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "lysosomal glycogen storage disease caused by mutation in LAMP2" EXACT [] synonym: "lysosomal glycogen storage disease with normal acid maltase activity" EXACT [Orphanet:34587] synonym: "lysosomal glycogen storage disease without acid maltase deficiency" RELATED [OMIM:300257] synonym: "lysosomal glycogen storage disease without acid maltase deficiency (formerly)" RELATED [GARD:0009730] synonym: "lysosomal glycogen storage disease without acid maltase deficiency, formerly" RELATED [OMIM:300257] synonym: "pseudoglycogenosis 2" RELATED [OMIM:300257] synonym: "pseudoglycogenosis II" EXACT [DOID:0050437] synonym: "vacuolar cardiomyopathy and myopathy X-linked" RELATED [GARD:0009730] synonym: "vacuolar cardiomyopathy and myopathy, X-linked" RELATED [OMIM:300257] synonym: "X-linked vacuolar cardiomyopathy and myopathy" RELATED [GARD:0009730] xref: DOID:0050437 {source="MONDO:equivalentTo"} xref: DOID:50437 xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D052120 {source="MONDO:equivalentTo", source="DOID:0050437"} xref: MeSH:D052120 xref: MONDO:0010281 xref: NCIT:C84735 {source="MONDO:equivalentTo", source="DOID:0050437"} xref: NCIt:C84735 xref: OMIM:300257 {source="Orphanet:34587/e", source="MONDO:equivalentTo", source="DOID:0050437", source="Orphanet:34587"} xref: Orphanet:34587 {source="MONDO:equivalentTo", source="OMIM:300257"} xref: SCTID:419097006 {source="MONDO:equivalentTo", source="DOID:0050437"} xref: UMLS:C0878677 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:0050437", source="OMIM:300257", source="Orphanet:34587"} is_a: MONDO:0002412 {source="MESH:D052120", source="NCIT:C84735/inferred", source="Orphanet:34587"} ! disorder of glycogen metabolism is_a: MONDO:0017738 {source="Orphanet:34587", source="https://orcid.org/0000-0001-5208-3432"} ! lysosomal glycogen storage disease is_a: Orphanet:365 ! Glycogen storage disease due to acid maltase deficiency property_value: exactMatch DOID:0050437 property_value: exactMatch http://identifiers.org/mesh/D052120 property_value: exactMatch http://identifiers.org/snomedct/419097006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0878677 property_value: exactMatch https://omim.org/entry/300257 property_value: exactMatch NCIT:C84735 property_value: exactMatch Orphanet:34587 property_value: excluded_subClassOf MONDO:0009290 {source="NCIT:C84735"} property_value: excluded_subClassOf MONDO:0016118 {source="Orphanet:34587"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9730/danon-disease xsd:anyURI {source="GARD:0009730"} [Term] id: EFO:1001335 name: Gynatresia def: "A congenital or acquired occlusion of an opening in any part of the female genital tract." [NCIT:P378] def: "Absence of a normal opening in the lumen of the female genital tract, from the FALLOPIAN TUBES to the VAGINA. This anomaly may be congenital or acquired due to injuries, diseases, or TISSUE ADHESIONS." [] synonym: "gynatresia" EXACT [] {comment="preferred label from MONDO"} xref: DOID:429 {source="MONDO:equivalentTo"} xref: MESH:D006175 {source="MONDO:equivalentTo", source="DOID:429"} xref: MeSH:D006175 xref: MONDO:0002946 xref: NCIT:C84743 {source="MONDO:equivalentTo", source="DOID:429"} xref: NCIt:C84743 xref: UMLS:C0018414 {source="NCIT:C84743", source="MONDO:equivalentTo", source="DOID:429"} is_a: EFO:0009549 {source="DOID:429", source="MESH:D006175"} ! female reproductive system disease property_value: exactMatch DOID:429 property_value: exactMatch http://identifiers.org/mesh/D006175 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018414 property_value: exactMatch NCIT:C84743 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001336 name: Hammer Toe Syndrome def: "A condition characterized by a series of interrelated digital symptoms and joint changes of the lesser digits and METATARSOPHALANGEAL JOINTS of the FOOT. The syndrome can include some or all of the following conditions: hammer toe, claw toe, mallet toe, overlapping fifth toe, curly toe, EXOSTOSIS; HYPEROSTOSIS; interdigital heloma, or contracted toe." [] xref: MeSH:D037801 is_a: EFO:0002461 ! skeletal system disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001337 name: Hand-Arm Vibration Syndrome def: "An occupational disorder resulting from prolonged exposure to vibration, affecting the fingers, hands, and forearms. It occurs in workers who regularly use vibrating tools such as jackhammers, power chain saws, riveters, etc. Symptoms include episodic finger blanching, NUMBNESS, tingling, and loss of nerve sensitivity." [] xref: MedDRA:10064140 xref: MeSH:D053421 is_a: EFO:0000618 ! nervous system disease property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001338 name: obsolete_Hearing Loss, Noise-Induced property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.98" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication\nUse http://www.ebi.ac.uk/efo/EFO_1001254\nLabel : noise-induced hearing loss" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_1001254 [Term] id: EFO:1001339 name: Heart neoplasm def: "A neoplasm (disease) that involves the heart." [MONDO:patterns/location] subset: gard_rare synonym: "Cardiac neoplasm" EXACT [NCIT:C3081] synonym: "Cardiac neoplasms" EXACT [NCIT:C3081] synonym: "Cardiac tumor" EXACT [NCIT:C3081] synonym: "Cardiac tumour" EXACT OMO:0003005 [] synonym: "heart neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "heart neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "heart neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "heart tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3081] synonym: "heart tumour" EXACT OMO:0003005 [] synonym: "Intracavitary tumors" RELATED [GARD:0002619] synonym: "Intracavitary tumours" RELATED OMO:0003005 [] synonym: "myocardial tumors (rhabdomyomas and fibromas)" RELATED [GARD:0002619] synonym: "myocardial tumours (rhabdomyomas and fibromas)" RELATED OMO:0003005 [] synonym: "neoplasm of heart" EXACT [MONDO:patterns/neoplasm, NCIT:C3081] synonym: "neoplasm of the heart" EXACT [NCIT:C3081] synonym: "primary cardiac tumors, childhood" RELATED [GARD:0002619] synonym: "tumor of heart" EXACT [MONDO:patterns/neoplasm, NCIT:C3081] synonym: "tumor of the heart" EXACT [NCIT:C3081] synonym: "tumour of heart" EXACT OMO:0003005 [] synonym: "tumour of the heart" EXACT OMO:0003005 [] xref: EFO:1001339 {source="MONDO:equivalentTo"} xref: GARD:0002619 {source="MONDO:equivalentTo"} xref: MONDO:0021209 xref: NCIT:C3081 {source="MONDO:equivalentTo"} is_a: EFO:0003777 {source="MONDO:Redundant", source="NCIT:C3081"} ! heart disease is_a: MONDO:0021350 {source="MONDO:Redundant", source="NCIT:C3081"} ! neoplasm of thorax is_a: MONDO:0024757 ! cardiovascular neoplasm property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0018809 property_value: exactMatch NCIT:C3081 property_value: exactMatch NCIT:C3081 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/neoplasm.yaml [Term] id: EFO:1001340 name: Heat Stroke def: "A condition caused by the failure of body to dissipate heat in an excessively hot environment or during PHYSICAL EXERTION in a hot environment. Contrast to HEAT EXHAUSTION, the body temperature in heat stroke patient is dangerously high with red, hot skin accompanied by DELUSIONS; CONVULSIONS; or COMA. It can be a life-threatening emergency and is most common in infants and the elderly." [] synonym: "heat apoplexy" EXACT [] synonym: "thermoplegia" EXACT [] xref: ICD10:T67 xref: MedDRA:10019345 xref: MeSH:D018883 xref: SNOMEDCT:52072009 is_a: HP:0001945 ! Fever property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001341 name: Heavy Chain Disease def: "A disorder of immunoglobulin synthesis in which large quantities of abnormal heavy chains are excreted in the urine. The amino acid sequences of the N-(amino-) terminal regions of these chains are normal, but they have a deletion extending from part of the variable domain through the first domain of the constant region, so that they cannot form cross-links to the light chains. The defect arises through faulty coupling of the variable (V) and constant (C) region genes." [] def: "Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains." [Orphanet:86864] subset: ordo_disease {source="Orphanet:86864"} synonym: "HCD" EXACT ABBREVIATION [NCIT:C3082, Orphanet:86864] synonym: "heavy chain disease" EXACT [] {comment="preferred label from MONDO"} synonym: "heavy chain disease" EXACT [NCIT:C3082] xref: DOID:0060125 {source="MONDO:equivalentTo"} xref: DOID:60125 xref: ICD10CM:C88.2 {source="Orphanet:86864/btnt", source="DOID:0060125", source="Orphanet:86864", source="MONDO:equivalentTo"} xref: ICD10CM:C88.3 {source="Orphanet:86864/btnt", source="MONDO:relatedTo", source="Orphanet:86864"} xref: ICD9:273.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9762/3 {source="NCIT:C3082"} xref: MedDRA:10019350 {source="Orphanet:86864", source="Orphanet:86864/e"} xref: MESH:D006362 {source="DOID:0060125", source="Orphanet:86864", source="MONDO:equivalentTo", source="Orphanet:86864/e"} xref: MeSH:D006362 xref: MONDO:0019464 xref: NCIT:C3082 {source="DOID:0060125", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIt:C3082 xref: ORDO:Orphanet_86864 xref: Orphanet:86864 {source="MONDO:equivalentTo"} xref: SCTID:68979007 {source="DOID:0060125", source="MONDO:equivalentTo"} xref: SNOMEDCT:6381009 xref: UMLS:C0018852 {source="DOID:0060125", source="Orphanet:86864", source="MONDO:equivalentTo", source="Orphanet:86864/e", source="NCIT:C3082"} is_a: EFO:0000200 {source="Orphanet:86864"} ! plasma cell neoplasm property_value: closeMatch http://identifiers.org/meddra/10019350 property_value: exactMatch DOID:0060125 property_value: exactMatch http://identifiers.org/mesh/D006362 property_value: exactMatch http://identifiers.org/snomedct/68979007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018852 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/C88.2 property_value: exactMatch NCIT:C3082 property_value: exactMatch Orphanet:86864 property_value: excluded_subClassOf MONDO:0002459 {source="DOID:0060125"} property_value: IAO:0000117 "Dani Welter" xsd:string property_value: relatedMatch http://purl.bioontology.org/ontology/ICD10CM/C88.3 [Term] id: EFO:1001342 name: Helminthiasis def: "A parasitic infection characterized by the infestation with worms, mainly in the intestine." [NCIT:C84751] def: "Infestation with parasitic worms of the helminth class." [] comment: Editor note: this is a vague grouping and does not correspond to any one taxon synonym: "helminth infection" EXACT [DOID:883] synonym: "helminthiasis" EXACT [] {comment="preferred label from MONDO"} synonym: "helminthiasis" EXACT [NCIT:C84751] synonym: "helminthosis" EXACT [DOID:883] synonym: "parasitic helminthiasis infectious disease" EXACT [DOID:883] synonym: "worm infection" RELATED [DOID:883] xref: DOID:883 {source="MONDO:equivalentTo"} xref: ICD10:B66 xref: ICD10:B83 xref: ICD10CM:B65-B83 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="DOID:883", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:120-129.99 {source="DOID:883"} xref: ICD9:128.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:128.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:883"} xref: MESH:D006373 {source="MONDO:equivalentTo", source="DOID:883"} xref: MeSH:D006373 xref: MONDO:0004664 xref: NCIT:C84751 {source="MONDO:equivalentTo", source="DOID:883"} xref: NCIt:C84751 xref: SCTID:27601005 {source="MONDO:equivalentTo", source="DOID:883"} xref: SNOMEDCT:27601005 xref: UMLS:C0018889 {source="MONDO:equivalentTo", source="NCIT:C84751", source="DOID:883"} is_a: EFO:0001067 {source="DOID:883", source="EFO:1001342", source="MESH:D006373", source="NCIT:C84751"} ! parasitic infection property_value: exactMatch DOID:883 property_value: exactMatch http://identifiers.org/mesh/D006373 property_value: exactMatch http://identifiers.org/snomedct/27601005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018889 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B65-B83 property_value: exactMatch NCIT:C84751 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001343 name: Hemangioma, Cavernous, Central Nervous System def: "A vascular anomaly composed of a collection of large, thin walled tortuous VEINS that can occur in any part of the central nervous system but lack intervening nervous tissue. Familial occurrence is common and has been associated with a number of genes mapped to 7q, 7p and 3q. Clinical features include SEIZURES; HEADACHE; STROKE; and progressive neurological deficit." [] xref: MeSH:D020786 is_a: EFO:0009386 ! central nervous system disease is_a: EFO:1000151 ! Cavernous Hemangioma property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001344 name: Hemarthrosis def: "Bleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia." [MESH:D006395] synonym: "haemarthrosis of shoulder joint" NARROW [DOID:801] synonym: "haemarthrosis of the ankle and foot" NARROW [DOID:801] synonym: "haemarthrosis of the pelvic region and thigh" NARROW [DOID:801] synonym: "hemarthroses" EXACT [] synonym: "hemarthrosis" EXACT [] {comment="preferred label from MONDO"} synonym: "hemarthrosis involving ankle and foot" NARROW [DOID:801, ICD9CM:719.17] synonym: "hemarthrosis involving forearm" NARROW [DOID:801, ICD9CM:719.13] synonym: "hemarthrosis involving hand" NARROW [DOID:801, ICD9CM:719.14] synonym: "hemarthrosis involving lower leg" NARROW [DOID:801, ICD9CM:719.16] synonym: "hemarthrosis involving pelvic region and thigh" NARROW [DOID:801, ICD9CM:719.15] synonym: "hemarthrosis involving shoulder region" NARROW [DOID:801, ICD9CM:719.11] synonym: "hemarthrosis involving upper arm" NARROW [DOID:801, ICD9CM:719.12] synonym: "hemarthrosis of ankle and/or foot" EXACT [DOID:801] synonym: "hemarthrosis of forearm" NARROW [DOID:801] synonym: "hemarthrosis of hand" NARROW [DOID:801] synonym: "hemarthrosis of lower leg" NARROW [DOID:801] synonym: "hemarthrosis of shoulder" NARROW [DOID:801] synonym: "hemarthrosis of shoulder region" EXACT [DOID:801] synonym: "hemarthrosis of the ankle and foot" NARROW [DOID:801] synonym: "hemarthrosis of the ankle and/or foot" EXACT [DOID:801] synonym: "hemarthrosis of the forearm" NARROW [DOID:801] synonym: "hemarthrosis of the hand" NARROW [DOID:801] synonym: "hemarthrosis of the lower leg" NARROW [DOID:801] synonym: "hemarthrosis of the pelvic region and thigh" NARROW [DOID:801] synonym: "hemarthrosis of the shoulder region" EXACT [DOID:801] synonym: "hemarthrosis of the upper arm" NARROW [DOID:801] synonym: "hemarthrosis of upper arm" NARROW [DOID:801] xref: DOID:801 {source="MONDO:equivalentTo"} xref: ICD10:M25.0 xref: ICD9:719.1 {source="DOID:801"} xref: ICD9:719.10 {source="DOID:801", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:719.18 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10019409 xref: MedDRA:10019417 xref: MESH:D006395 {source="DOID:801", source="MONDO:equivalentTo"} xref: MeSH:D006395 xref: MONDO:0004431 xref: SCTID:81808003 {source="DOID:801", source="MONDO:equivalentTo"} xref: SNOMEDCT:81808003 xref: UMLS:C0158159 {source="MONDO:equivalentTo"} is_a: EFO:1000999 {source="DOID:801", source="MESH:D006395"} ! joint disease property_value: exactMatch DOID:801 property_value: exactMatch http://identifiers.org/mesh/D006395 property_value: exactMatch http://identifiers.org/snomedct/81808003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0158159 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001345 name: Hepatitis, Alcoholic def: "Acute hepatitis resulting from ingestion of alcohol." [NCIT:P378] def: "INFLAMMATION of the LIVER due to ALCOHOL ABUSE. It is characterized by NECROSIS of HEPATOCYTES, infiltration by NEUTROPHILS, and deposit of MALLORY BODIES. Depending on its severity, the inflammatory lesion may be reversible or progress to LIVER CIRRHOSIS." [] synonym: "acute alcoholic Hepatitis" EXACT [DOID:12351, NCIT:C34352] synonym: "acute alcoholic hepatitis" EXACT [DOID:12351, ICD9CM:571.1] synonym: "acute alcoholic liver disease" EXACT [DOID:12351] synonym: "alcoholic Hepatitis" EXACT [DOID:12351, NCIT:C34684] synonym: "alcoholic hepatitis" EXACT [] {comment="preferred label from MONDO"} synonym: "alcoholic hepatitis" EXACT [DOID:12351] xref: CSP:1754-6978 {source="DOID:12351"} xref: DOID:12351 {source="MONDO:equivalentTo"} xref: ICD10CM:K70.1 {source="MONDO:equivalentTo"} xref: ICD9:571.1 {source="DOID:12351"} xref: MESH:D006519 {source="MONDO:equivalentTo"} xref: MeSH:D006519 xref: MONDO:0001505 xref: NCIT:C34684 {source="MONDO:equivalentTo"} xref: SCTID:235875008 {source="MONDO:equivalentTo"} xref: UMLS:C0001306 {source="MONDO:equivalentTo", source="DOID:12351"} is_a: EFO:0008573 {source="MESH:D006519", source="MONDO:Redundant", source="NCIT:C34684"} ! alcoholic liver disease is_a: EFO:0009903 ! inflammatory disease property_value: exactMatch DOID:12351 property_value: exactMatch http://identifiers.org/mesh/D006519 property_value: exactMatch http://identifiers.org/snomedct/235875008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001306 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K70.1 property_value: exactMatch NCIT:C34684 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001346 name: Hepatopulmonary Syndrome def: "A syndrome characterized by the clinical triad of advanced chronic liver disease, pulmonary vascular dilatations, and reduced arterial oxygenation (HYPOXEMIA) in the absence of intrinsic cardiopulmonary disease. This syndrome is common in the patients with LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL)." [] def: "Hepatopulmonary syndrome (HPS) is a lung disease characterized by widening of arteries and veins (dilatation) in the lungs in people who have chronic liver disease. Because of the dilated vases, the workload of the heart increases and the blood pumped to the body does not have enough oxygen, leading to a decreased level of oxygen in the blood (hypoxemia). The normal diameter of the lung vessels ranges between 8 and 15 μm whereas when in HPS rises to between 15 and 500 μm. While many people with HPS don't have any obvious problems, the main reported symptom is shortness of breath (dyspnea) that is worse when standing or sitting up, and is relieved when lying down (platypnea). Symptoms related to chronic liver disease (generally cirrhosis) include small red spots on the skin (spider angiomas) and abnormal vascular dilatations. Some other symptoms that have been described are infections in the brain (brain abscesses), brain bleeding and an increased number of red blood cells in the blood (polycythemia). There is currently no effective medication for HPS. Oxygen therapy may improve the breathing in some cases. Liver transplant is an efficient treatment which improves the symptoms, even in severe cases." [https://rarediseases.info.nih.gov/diseases/13384/hepatopulmonary-syndrome] subset: gard_rare {source="GARD:0013384"} synonym: "hepatopulmonary syndrome" EXACT [] {comment="preferred label from MONDO"} xref: DOID:900 {source="MONDO:equivalentTo"} xref: ICD10:K76.81 xref: ICD10CM:K76.81 {source="DOID:900", source="MONDO:equivalentTo"} xref: ICD9:417.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:573.5 {source="DOID:900"} xref: MedDRA:10052274 xref: MESH:D020065 {source="DOID:900", source="MONDO:equivalentTo"} xref: MeSH:D020065 xref: MONDO:0004694 xref: SCTID:371067004 {source="DOID:900", source="MONDO:equivalentTo"} xref: SNOMEDCT:371067004 xref: UMLS:C0600452 {source="DOID:900", source="MONDO:equivalentTo"} is_a: EFO:0001421 {source="DOID:900", source="MESH:D020065"} ! liver disease is_a: EFO:0004264 ! vascular disease property_value: exactMatch DOID:900 property_value: exactMatch http://identifiers.org/mesh/D020065 property_value: exactMatch http://identifiers.org/snomedct/371067004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0600452 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K76.81 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13384/hepatopulmonary-syndrome xsd:anyURI {source="GARD:0013384"} [Term] id: EFO:1001347 name: Herpes Labialis def: "Herpes simplex, caused by type 1 virus, primarily spread by oral secretions and usually occurring as a concomitant of fever. It may also develop in the absence of fever or prior illness. It commonly involves the facial region, especially the lips and the nares. (Dorland, 27th ed.)" [] xref: MedDRA:10019942 xref: MeSH:D006560 xref: SNOMEDCT:1475003 is_a: EFO:0007309 ! Herpesviridae infectious disease property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001348 name: HIV-Associated Lipodystrophy Syndrome def: "Defective metabolism leading to fat maldistribution in patients infected with HIV. The etiology appears to be multifactorial and probably involves some combination of infection-induced alterations in metabolism, direct effects of antiretroviral therapy, and patient-related factors." [] xref: DOID:810 xref: MeSH:D039682 is_a: EFO:0000764 ! HIV infection property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001349 name: Human T-lymphotropic virus 2 infectious disease def: "infection associated with HTLV-2 virus" [] synonym: "HTLV II INFECT" RELATED [MESH:D015491] synonym: "HTLV-2 infection" EXACT [] {comment="preferred label from MONDO"} synonym: "HTLV-2 infection" EXACT [UMLS:C0020102] synonym: "HTLV-2 infectious disease" EXACT [] synonym: "HTLV-II Infection" RELATED [MESH:D015491] synonym: "HTLV-II infection" RELATED [UMLS:C0020102] synonym: "HTLV-II Infections" EXACT [] synonym: "HTLV-II Infections" RELATED [MESH:D015491] synonym: "HTLV-II infectious disease" EXACT [] synonym: "Human T lymphotropic Virus 2 Infection" RELATED [MESH:D015491] synonym: "Human T lymphotropic Virus 2 Infections" RELATED [MESH:D015491] synonym: "Human T-lymphotropic Virus 2 Infection" RELATED [MESH:D015491] synonym: "Human T-lymphotropic virus 2 infection" RELATED [UMLS:C0020102] synonym: "Human T-lymphotropic Virus 2 Infections" RELATED [MESH:D015491] synonym: "INFECT HTLV II" RELATED [MESH:D015491] synonym: "Infection, HTLV-II" RELATED [MESH:D015491] synonym: "Infections, HTLV II" RELATED [MESH:D015491] synonym: "Infections, HTLV-II" RELATED [MESH:D015491] xref: DOID:716 xref: MESH:D015491 {source="MONDO:equivalentTo", source="UMLS:C0020102"} xref: MeSH:D015491 xref: MONDO:0021183 xref: SCTID:425740005 {source="MONDO:equivalentTo", source="UMLS:C0020102"} xref: UMLS:C0020102 {source="MONDO:equivalentTo"} is_a: EFO:1001303 {source="MESH:D015491"} ! Deltaretrovirus Infections relationship: has_characteristic MONDO:0021136 {source="GARD:0009783"} ! rare property_value: exactMatch http://identifiers.org/mesh/D015491 property_value: exactMatch http://identifiers.org/snomedct/425740005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020102 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001350 name: Immunoblastic Lymphadenopathy def: "A disorder characterized by proliferation of arborizing small vessels, prominent immunoblastic proliferations and amorphous acidophilic interstitial material. Clinical manifestations include fever, sweats, weight loss, generalized lymphadenopathy and frequently hepatosplenomegaly." [] xref: MeSH:D007119 is_a: EFO:0000574 ! lymphoma property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001351 name: infectious arthritis def: "Acute inflammation of one or more joints caused by the presence of pus within the joint cavity. [ NCI ]" [] def: "Arthritis caused by BACTERIA; RICKETTSIA; MYCOPLASMA; VIRUSES; FUNGI; or PARASITES." [] def: "The inflammation of one or more joints caused by a bacterial infection within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint." [NCIT:C26699] synonym: "Arthritides, Bacterial" EXACT [] synonym: "Arthritis, Bacterial" EXACT [] synonym: "Arthritis, Infectious" EXACT [] synonym: "Arthritis, Septic" EXACT [] synonym: "Arthritis, Suppurative" EXACT [] synonym: "Arthritis, Viral" EXACT [] synonym: "Bacterial Arthritides" EXACT [] synonym: "Bacterial Arthritis" EXACT [] synonym: "bacterial arthritis" EXACT [] {comment="preferred label from MONDO"} synonym: "Infectious arthritis" EXACT [] synonym: "infectious arthritis" BROAD [DOID:813] synonym: "Pyogenic Arthritis" EXACT [] synonym: "pyogenic arthritis" EXACT [NCIT:C26699] synonym: "septic arthritis" EXACT [NCIT:C26699] synonym: "Suppurative Arthritis" EXACT [] xref: DOID:813 {source="MONDO:equivalentTo"} xref: ICD10:M00 xref: ICD9:711.0 {source="DOID:813"} xref: ICD9:711.40 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:711.9 {source="DOID:813"} xref: ICD9:711.90 {source="DOID:813"} xref: ICD9:711.91 {source="DOID:813"} xref: ICD9:711.92 {source="DOID:813"} xref: ICD9:711.93 {source="DOID:813"} xref: ICD9:711.94 {source="DOID:813"} xref: ICD9:711.95 {source="DOID:813"} xref: ICD9:711.96 {source="DOID:813"} xref: ICD9:711.97 {source="DOID:813"} xref: MedDRA:10021904 xref: MedDRA:10040057 xref: MESH:D001170 {source="DOID:813", source="MONDO:equivalentTo"} xref: MeSH:D001170 xref: MONDO:0004471 xref: NCIt:C118475 xref: NCIT:C26699 {source="MONDO:equivalentTo"} xref: NCIT:C26700 {source="DOID:813", source="MONDO:directSiblingOf"} xref: SCTID:48245008 {source="MONDO:equivalentTo"} xref: UMLS:C3891815 is_a: EFO:0000771 ! bacterial disease is_a: MONDO:0042485 ! infective arthritis property_value: exactMatch DOID:813 property_value: exactMatch http://identifiers.org/mesh/D001170 property_value: exactMatch http://identifiers.org/snomedct/48245008 property_value: exactMatch NCIT:C26699 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000117 "Zoe May Pendlington" xsd:string [Term] id: EFO:1001352 name: Kartagener Syndrome def: "An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS. The syndrome is caused by mutations of DYNEIN genes encoding motility proteins which are components of sperm tails, and CILIA in the respiratory and the reproductive tracts." [] xref: DOID:50144 xref: MeSH:D007619 xref: NCIt:C84797 xref: SNOMEDCT:42402006 is_a: EFO:0000508 ! genetic disorder property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001353 name: Klebsiella Infections def: "Infections with bacteria of the genus KLEBSIELLA." [] xref: DOID:0050479 xref: MedDRA:10023455 xref: MeSH:D007710 is_a: EFO:0000771 ! bacterial disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001354 name: Kleine-Levin Syndrome def: "A rare condition characterized by recurrent hypersomnias associated with hyperphagia, occurring primarily in males in the second to third decade of life. Clinical features include mental confusion, excessive sleep requirements (approximately 18 hours per day), restlessness, and in some cases hallucinations. Episodes have a duration of days to weeks, and may recur several times per year. This condition may resolve spontaneously over several years. (From Adams, et al., Principles of Neurology, 6th ed, p569)" [] def: "Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterized by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioral disturbances." [Orphanet:33543] subset: gard_rare {source="GARD:0003117"} subset: ordo_disease {source="Orphanet:33543"} synonym: "familial hibernation syndrome" RELATED [GARD:0003117] synonym: "familial Kleine-Levin syndrome" RELATED [GARD:0003117] synonym: "Kleine Levin syndrome" RELATED [GARD:0003117] synonym: "Kleine-LEVIN hibernation syndrome" RELATED [OMIM:148840] synonym: "Kleine-Levin syndrome" EXACT [OMIM:148840] synonym: "Kleine-Levin syndrome" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0060165 {source="MONDO:equivalentTo"} xref: DOID:60165 xref: MedDRA:10053712 {source="Orphanet:33543", source="Orphanet:33543/e"} xref: MedDRA:10053742 xref: MESH:D017593 {source="Orphanet:33543", source="MONDO:equivalentTo", source="Orphanet:33543/e"} xref: MeSH:D017593 xref: MONDO:0007863 xref: NCIT:C84800 {source="MONDO:equivalentTo"} xref: NCIt:C84800 xref: OMIM:148840 {source="Orphanet:33543", source="MONDO:equivalentTo", source="Orphanet:33543/e"} xref: ORDO:Orphanet_33543 xref: Orphanet:33543 {source="MONDO:equivalentTo", source="OMIM:148840"} xref: SCTID:111488004 {source="MONDO:equivalentTo"} xref: SNOMEDCT:111488004 xref: UMLS:C0206085 {source="Orphanet:33543", source="NCIT:C84800", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:148840", source="Orphanet:33543/e"} is_a: EFO:0005246 ! hypersomnia is_a: MONDO:0002254 {source="NCIT:C84800"} ! syndromic disease is_a: MONDO:0004617 {source="DOID:0060165"} ! recurrent hypersomnia relationship: has_characteristic MONDO:0021136 {source="MONDO:0019045"} ! rare property_value: closeMatch http://identifiers.org/meddra/10053712 property_value: exactMatch DOID:0060165 property_value: exactMatch http://identifiers.org/mesh/D017593 property_value: exactMatch http://identifiers.org/snomedct/111488004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206085 property_value: exactMatch https://omim.org/entry/148840 property_value: exactMatch NCIT:C84800 property_value: exactMatch Orphanet:33543 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3117/kleine-levin-syndrome xsd:anyURI {source="GARD:0003117"} [Term] id: EFO:1001355 name: Laryngopharyngeal Reflux def: "Back flow of gastric contents to the LARYNGOPHARYNX where it comes in contact with tissues of the upper aerodigestive tract. Laryngopharyngeal reflux is an extraesophageal manifestation of GASTROESOPHAGEAL REFLUX." [] xref: MedDRA:10059494 xref: MeSH:D057045 xref: SNOMEDCT:414581006 is_a: EFO:0003948 ! gastroesophageal reflux disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001356 name: Leiomyoma, Epithelioid def: "A relatively rare smooth muscle tumor found most frequently in the wall of the gastrointestinal tract, especially in the stomach. It is similar to other smooth muscle tumors but may become very large and hemorrhage and exhibit small cystic areas. Simple excision is almost always curative. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1354)" [] xref: MeSH:D018230 is_a: EFO:0000616 ! neoplasm property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001357 name: Lentivirus Infections def: "Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection." [MESH:D016180] synonym: "Disease caused by Lentivirus" RELATED [UMLS:C0079680] synonym: "Disease due to Lentivirus" RELATED [UMLS:C0079680] synonym: "Infection, Lentivirus" RELATED [MESH:D016180] synonym: "Infections, Lentivirus" RELATED [MESH:D016180] synonym: "Lentivirus Infection" RELATED [MESH:D016180] synonym: "lentivirus infection" EXACT [] {comment="preferred label from MONDO"} synonym: "Lentivirus Infections" RELATED [MESH:D016180] xref: DOID:622 xref: MESH:D016180 {source="UMLS:C0079680", source="MONDO:equivalentTo"} xref: MeSH:D016180 xref: MONDO:0022034 xref: UMLS:C0079680 {source="MONDO:equivalentTo"} is_a: MONDO:0100329 ! primary viral infectious disease property_value: exactMatch http://identifiers.org/mesh/D016180 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0079680 property_value: excluded_subClassOf MONDO:0006485 {source="MESH:D016180"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001358 name: Leprosy, Paucibacillary def: "A form of LEPROSY classified by the World Health Organization for the purpose of treatment, based on clinical manifestations and skin smear results. Patients with paucibacillary leprosy have fewer than six skin lesions with no causative agent MYCOBACTERIUM LEPRAE on any slit-skin smear testing. Paucibacillary leprosy encompasses indeterminate, borderline tuberculoid, and tuberculoid leprosy." [] synonym: "paucibacillary leprosy" EXACT [] xref: MeSH:D056005 xref: SNOMEDCT:416483009 is_a: EFO:0001054 ! leprosy property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001359 name: Leukocyte-Adhesion Deficiency Syndrome def: "Rare, autosomal recessive disorder caused by deficiency of the beta 2 integrin receptors (RECEPTORS, LEUKOCYTE-ADHESION) comprising the CD11/CD18 family of glycoproteins. The syndrome is characterized by abnormal adhesion-dependent functions, especially defective tissue emigration of neutrophils, leading to recurrent infection." [] xref: DOID:611 xref: MeSH:D018370 is_a: EFO:0000508 ! genetic disorder property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001360 name: Leukoplakia, Hairy def: "Epithelial hyperplasia of the oral mucosa associated with Epstein-Barr virus (HERPESVIRUS 4, HUMAN) and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy." [] xref: MeSH:D017733 is_a: EFO:0003868 ! mouth neoplasm property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001361 name: localised scleroderma def: "A term used to describe a variety of localized asymmetrical SKIN thickening that is similar to those of SYSTEMIC SCLERODERMA but without the disease features in the multiple internal organs and BLOOD VESSELS. Lesions may be characterized as patches or plaques (morphea), bands (linear), or nodules." [] def: "Localized scleroderma is the skin localized form of scleroderma characterized by fibrosis of the skin causing cutaneous plaques or strips." [Orphanet:90289] subset: ordo_disease {source="Orphanet:90289"} synonym: "circumscribed scleroderma" EXACT [DOID:8472, ICD9CM:701.0] synonym: "localised fibrosing scleroderma" EXACT OMO:0003005 [] synonym: "localised morphea" EXACT OMO:0003005 [] synonym: "localised morphoea" EXACT OMO:0003005 [] synonym: "localised scleroderma (disorder) [ambiguous]" EXACT OMO:0003005 [] synonym: "localized fibrosing scleroderma" EXACT [Orphanet:90289] synonym: "localized morphea" EXACT [DOID:8472] synonym: "localized morphoea" EXACT [DOID:8472] synonym: "localized scleroderma" EXACT [MONDO:0004581] synonym: "localized scleroderma" EXACT [] {comment="preferred label from MONDO"} synonym: "localized scleroderma (disorder) [ambiguous]" EXACT [DOID:8472] synonym: "morphea" EXACT [DOID:8472] synonym: "Scleroderma, circumscribed or localised" EXACT OMO:0003005 [] synonym: "Scleroderma, circumscribed or localized" EXACT [DOID:8472] synonym: "Scleroderma, localised" RELATED OMO:0003005 [] synonym: "scleroderma, localised" EXACT [] synonym: "Scleroderma, Localized" EXACT [] synonym: "Scleroderma, localized" RELATED [GARD:0007058] xref: DOID:419 xref: DOID:8472 {source="MONDO:equivalentTo"} xref: ICD9:701.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8472"} xref: MedDRA:10039712 {source="Orphanet:90289", source="Orphanet:90289/e"} xref: MESH:D012594 {source="MONDO:equivalentTo", source="Orphanet:90289", source="DOID:8472", source="Orphanet:90289/e"} xref: MeSH:D012594 xref: MONDO:0019562 xref: NCIT:C72069 {source="MONDO:equivalentTo", source="DOID:8472"} xref: Orphanet:90289 {source="MONDO:equivalentTo"} xref: SCTID:201048007 {source="MONDO:equivalentTo", source="DOID:8472"} xref: SNOMEDCT:201048007 xref: UMLS:C0036420 {source="MONDO:equivalentTo", source="Orphanet:90289", source="DOID:8472", source="NCIT:C72069", source="Orphanet:90289/e"} is_a: EFO:0007374 ! mixed connective tissue disease is_a: EFO:1001993 {source="DOID:8472", source="NCIT:C72069", source="Orphanet:90289"} ! scleroderma property_value: closeMatch http://identifiers.org/meddra/10039712 property_value: exactMatch DOID:8472 property_value: exactMatch http://identifiers.org/mesh/D012594 property_value: exactMatch http://identifiers.org/snomedct/201048007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036420 property_value: exactMatch NCIT:C72069 property_value: exactMatch Orphanet:90289 property_value: IAO:0000117 "Gautier Koscielny" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001362 name: Lung Abscess def: "A bacterial, fungal or parasitic abscess that develops in the lung parenchyma. Causes include aspiration pneumonia, necrotizing pneumonia, necrotizing malignant tumors, and Wegener's granulomatosis." [NCIT:P378] def: "Solitary or multiple collections of PUS within the lung parenchyma as a result of infection by bacteria, protozoa, or other agents." [] synonym: "lung abscess" EXACT [MONDO:ambiguous] synonym: "lung abscess" EXACT [] {comment="preferred label from MONDO"} synonym: "lung abscess (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0060317 {source="MONDO:equivalentTo"} xref: DOID:850 xref: HP:0025044 {source="MONDO:otherHierarchy"} xref: ICD9:513.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:0060317"} xref: MedDRA:10025028 xref: MESH:D008169 {source="MONDO:equivalentTo", source="DOID:0060317"} xref: MeSH:D008169 xref: MONDO:0000744 xref: NCIT:C99090 {source="MONDO:equivalentTo", source="DOID:0060317"} xref: NCIt:C99090 xref: SCTID:73452002 {source="MONDO:equivalentTo", source="DOID:0060317"} xref: SNOMEDCT:196108004 xref: UMLS:C0024110 {source="MONDO:equivalentTo", source="DOID:0060317", source="NCIT:C99090"} is_a: EFO:0003030 {source="EFO:1001362", source="MESH:D008169", source="NCIT:C99090"} ! abscess is_a: EFO:0003818 {source="DOID:0060317", source="MESH:D008169", source="NCIT:C99090/inferred"} ! lung disease is_a: MONDO:0024355 ! respiratory tract infectious disorder property_value: exactMatch DOID:0060317 property_value: exactMatch http://identifiers.org/mesh/D008169 property_value: exactMatch http://identifiers.org/snomedct/73452002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024110 property_value: exactMatch NCIT:C99090 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000589 "lung abscess (disease)" xsd:string [Term] id: EFO:1001363 name: Lupus Vasculitis, Central Nervous System def: "Central nervous system vasculitis that is associated with SYSTEMIC LUPUS ERYTHEMATOSUS. Clinical manifestations may include DEMENTIA; SEIZURES; CRANIAL NERVE DISEASES; HEMIPARESIS; BLINDNESS; DYSPHASIA; and other neurological disorders." [] xref: MeSH:D020945 is_a: EFO:0007364 ! meningoencephalitis property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001364 name: Lymphatic Metastasis def: "Transfer of a neoplasm from its primary site to lymph nodes or to distant parts of the body by way of the lymphatic system." [] xref: MeSH:D008207 is_a: EFO:0009708 ! metastasis property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001365 name: Lymphoma, AIDS-Related def: "B-cell lymphoid tumors that occur in association with AIDS. Patients often present with an advanced stage of disease and highly malignant subtypes including BURKITT LYMPHOMA; IMMUNOBLASTIC LARGE-CELL LYMPHOMA; PRIMARY EFFUSION LYMPHOMA; and DIFFUSE, LARGE B-CELL, LYMPHOMA. The tumors are often disseminated in unusual extranodal sites and chromosomal abnormalities are frequently present. It is likely that polyclonal B-cell lymphoproliferation in AIDS is a complex result of EBV infection, HIV antigenic stimulation, and T-cell-dependent HIV activation." [] xref: MeSH:D016483 xref: NCIt:C3471 is_a: EFO:0005952 ! non-Hodgkins lymphoma property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001366 name: mastodynia def: "Pain in the breast generally classified as cyclical (associated with menstrual periods), or noncyclical, i.e. originating from the breast or nearby muscles or joints, ranging from minor discomfort to severely incapacitating." [] synonym: "breast pain" EXACT [] synonym: "mammalgia" EXACT [] synonym: "mastalgia" EXACT [] xref: ICD10:N64.4 xref: MedDRA:10026892 xref: MeSH:D059373 xref: SNOMEDCT:53430007 is_a: EFO:0003843 ! pain property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001367 name: Medial Tibial Stress Syndrome def: "SKELETAL MUSCLE pain and tenderness along the posteromedial TIBIA resulting from exercise such as running and other physical activity." [] xref: MedDRA:10065303 xref: MeSH:D058923 is_a: EFO:0002970 ! muscular disease property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001368 name: Mediastinal Cyst def: "Cysts of one of the parts of the mediastinum: the superior part, containing the trachea, esophagus, thoracic duct and thymus organs; the inferior middle part, containing the pericardium; the inferior anterior part containing some lymph nodes; and the inferior posterior part, containing the thoracic duct and esophagus." [] xref: MedDRA:10050168 xref: MeSH:D008476 xref: NCIt:C3220 is_a: EFO:0000616 ! neoplasm property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001369 name: Meningomyelocele def: "Congenital, or rarely acquired, herniation of meningeal and spinal cord tissue through a bony defect in the vertebral column. The majority of these defects occur in the lumbosacral region. Clinical features include PARAPLEGIA, loss of sensation in the lower body, and incontinence. This condition may be associated with the ARNOLD-CHIARI MALFORMATION and HYDROCEPHALUS. (From Joynt, Clinical Neurology, 1992, Ch55, pp35-6)" [] xref: MedDRA:10027287 xref: MeSH:D008591 xref: NCIt:C101201 xref: SNOMEDCT:414667000 is_a: EFO:0009386 ! central nervous system disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001370 name: metatarsalgia def: "Pain in the region of the METATARSUS. It can include pain in the METATARSAL BONES; METATARSOPHALANGEAL JOINT; and/or intermetatarsal joints (TARSAL JOINTS)." [] xref: ICD10:M77.4 xref: MedDRA:10027487 xref: MeSH:D037061 xref: SNOMEDCT:10085004 is_a: EFO:0003843 ! pain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001371 name: Mixed Tumor, Mesodermal def: "A sarcoma of the body of the uterus arising in older women, composed of more than one mesenchymal tissue, especially including striated muscle cells. It is associated with previous pelvic radiation exposure in 20% of patients. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1702)" [] xref: MeSH:D018199 xref: SNOMEDCT:112684005 is_a: EFO:0007373 ! mixed cell type cancer property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001372 name: Monieziasis def: "Infection of ruminants with tapeworms of the genus Moniezia." [MESH:D008989] synonym: "monieziasis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:931 {source="MONDO:equivalentTo"} xref: MESH:D008989 {source="DOID:931", source="MONDO:equivalentTo"} xref: MeSH:D008989 xref: MONDO:0004755 xref: UMLS:C0026414 {source="DOID:931", source="MONDO:equivalentTo"} is_a: EFO:1001342 {source="DOID:931", source="MESH:D008989/inferred"} ! Helminthiasis property_value: exactMatch DOID:931 property_value: exactMatch http://identifiers.org/mesh/D008989 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026414 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001373 name: Multiple Organ Failure def: "A progressive condition usually characterized by combined failure of several organs such as the lungs, liver, kidney, along with some clotting mechanisms, usually postinjury or postoperative." [] xref: MedDRA:10028237 xref: MedDRA:10058092 xref: MeSH:D009102 xref: NCIt:C75568 xref: SNOMEDCT:57653000 is_a: EFO:0009518 ! complication property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001374 name: Mycoplasmatales Infections def: "Infections with bacteria of the order MYCOPLASMATALES." [] xref: DOID:50403 xref: MeSH:D009180 is_a: EFO:0000771 ! bacterial disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001375 name: Myocardial Ischemia def: "A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (CORONARY ARTERY DISEASE), to obstruction by a thrombus (CORONARY THROMBOSIS), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (MYOCARDIAL INFARCTION)." [] def: "A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (coronary artery disease), to obstruction by a thrombus (coronary thrombosis), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (myocardial infarction)." [MESH:D017202] synonym: "disease, ischaemic heart" RELATED OMO:0003005 [] synonym: "disease, ischemic heart" RELATED [MESH:D017202] synonym: "diseases, ischaemic heart" RELATED OMO:0003005 [] synonym: "diseases, ischemic heart" RELATED [MESH:D017202] synonym: "heart disease, ischaemic" RELATED OMO:0003005 [] synonym: "heart disease, ischemic" RELATED [MESH:D017202] synonym: "heart diseases, ischaemic" RELATED OMO:0003005 [] synonym: "heart diseases, ischemic" RELATED [MESH:D017202] synonym: "IHD" EXACT ABBREVIATION [NCIT:C50625] synonym: "ischaemic disease of myocardium" EXACT OMO:0003005 [] synonym: "ischaemic heart disease" EXACT OMO:0003005 [] synonym: "ischaemic heart diseases" RELATED OMO:0003005 [] synonym: "ischemia, myocardial" RELATED [MESH:D017202] synonym: "ischemias, myocardial" RELATED [MESH:D017202] synonym: "ischemic disease of myocardium" EXACT [MONDO:design_pattern] synonym: "ischemic heart disease" EXACT [MESH:D017202] synonym: "ischemic heart diseases" RELATED [MESH:D017202] synonym: "myocardial ischemia" EXACT [] {comment="preferred label from MONDO"} synonym: "myocardial Ischemias" RELATED [MESH:D017202] synonym: "myocardium ischaemic disease" EXACT OMO:0003005 [] synonym: "myocardium ischemic disease" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:3394 xref: ICD10CM:I20-I25 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: MedDRA:10028601 xref: MESH:D017202 {source="MONDO:equivalentTo"} xref: MeSH:D017202 xref: MONDO:0024644 xref: NCIT:C50625 {source="MONDO:equivalentTo"} xref: SCTID:414545008 {source="MONDO:equivalentTo"} xref: SNOMEDCT:414795007 xref: UMLS:C0151744 {source="MONDO:equivalentTo"} is_a: EFO:0001645 ! coronary artery disease is_a: MONDO:0005053 ! ischemic disease is_a: MONDO:0024643 {source="MONDO:Redundant", source="MONDO:cjm"} ! myocardial disorder property_value: exactMatch http://identifiers.org/mesh/D017202 property_value: exactMatch http://identifiers.org/snomedct/414545008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151744 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/I20-I25 property_value: exactMatch NCIT:C50625 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001376 name: Necrobiotic Xanthogranuloma def: "A cutaneous necrobiotic disorder characterized by firm, yellow plaques or nodules, often in a periorbital distribution. It is often accompanied by an elevated ERYTHROCYTE SEDIMENTATION RATE; LEUKOPENIA; and MONOCLONAL GAMMOPATHY (IgG-kappa type) and systemic involvement." [] def: "A cutaneous necrobiotic disorder characterized by firm, yellow plaques or nodules, often in a periorbital distribution. It is often accompanied by an elevated erythrocyte sedimentation rate; leukopenia; and monoclonal gammopathy (IgG-kappa type) and systemic involvement." [MESH:D058252] subset: gard_rare {source="GARD:0010951"} subset: ordo_disease {source="Orphanet:158011"} synonym: "necrobiotic xanthogranuloma" EXACT [] {comment="preferred label from MONDO"} synonym: "NXG" RELATED ABBREVIATION [GARD:0010951] xref: ICD9:709.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D058252 {source="Orphanet:158011/e", source="MONDO:equivalentTo", source="Orphanet:158011"} xref: MeSH:D058252 xref: MONDO:0015537 xref: ORDO:Orphanet_158011 xref: Orphanet:158011 {source="MONDO:equivalentTo"} xref: SCTID:404164003 {source="MONDO:equivalentTo"} xref: SNOMEDCT:404164003 xref: UMLS:C1275339 {source="Orphanet:158011/e", source="MONDO:equivalentTo", source="Orphanet:158011"} is_a: EFO:0000701 ! skin disease is_a: MONDO:0015531 {source="Orphanet:158011"} ! non-Langerhans cell histiocytosis property_value: exactMatch http://identifiers.org/mesh/D058252 property_value: exactMatch http://identifiers.org/snomedct/404164003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275339 property_value: exactMatch Orphanet:158011 property_value: IAO:0000117 "Dani Welter" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10951/necrobiotic-xanthogranuloma xsd:anyURI {source="GARD:0010951"} [Term] id: EFO:1001377 name: Neisseriaceae Infections def: "Infections with bacteria of the family NEISSERIACEAE." [] xref: DOID:50370 xref: MeSH:D016870 is_a: EFO:0000771 ! bacterial disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001378 name: neurogenic arthropathy def: "Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly TABES DORSALIS, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)" [] def: "Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly tabes dorsalis, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)" [MESH:D001177] synonym: "Arthropathy associated with neurological disorder" EXACT [] synonym: "arthropathy associated with neurological disorder" EXACT [DOID:14286, ICD9CM:713.5] synonym: "Arthropathy, Neurogenic" EXACT [] synonym: "Charcot's arthropathy" EXACT [DOID:14286] synonym: "Charcot's joint" RELATED [DOID:14286] synonym: "neurogenic arthropathy" EXACT [] {comment="preferred label from MONDO"} synonym: "neuropathic arthropathy" EXACT [DOID:14286] synonym: "Neuropathic arthropathy (& Charcot's)" EXACT [] synonym: "neuropathic arthropathy (& Charcot's)" EXACT [DOID:14286] xref: DOID:14286 {source="MONDO:equivalentTo"} xref: ICD9:713.5 {source="DOID:14286"} xref: MedDRA:10003375 xref: MESH:D001177 {source="MONDO:equivalentTo", source="DOID:14286"} xref: MeSH:D001177 xref: MONDO:0001935 xref: SCTID:359554008 {source="MONDO:equivalentTo", source="DOID:14286"} xref: SNOMEDCT:39510005 xref: UMLS:C0003892 {source="MONDO:equivalentTo", source="DOID:14286"} is_a: EFO:1000999 {source="DOID:14286", source="EFO:1001378", source="MESH:D001177"} ! joint disease relationship: disease_arises_from_feature EFO:0000618 ! nervous system disease property_value: exactMatch DOID:14286 property_value: exactMatch http://identifiers.org/mesh/D001177 property_value: exactMatch http://identifiers.org/snomedct/359554008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003892 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001379 name: neuroleptic malignant syndrome def: "A potentially fatal syndrome associated primarily with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS) which are in turn associated with dopaminergic receptor blockade (see RECEPTORS, DOPAMINE) in the BASAL GANGLIA and HYPOTHALAMUS, and sympathetic dysregulation. Clinical features include diffuse MUSCLE RIGIDITY; TREMOR; high FEVER; diaphoresis; labile blood pressure; cognitive dysfunction; and autonomic disturbances. Serum CPK level elevation and a leukocytosis may also be present. (From Adams et al., Principles of Neurology, 6th ed, p1199; Psychiatr Serv 1998 Sep;49(9):1163-72)" [] def: "Neuroleptic malignant syndrome (NMS) is an idiosyncratic condition associated with administration of antipsychotic and other central dopaminergic blockers, and characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness." [Orphanet:94093] subset: gard_rare {source="GARD:0007195"} subset: ordo_disease {source="Orphanet:94093"} synonym: "Neuroleptic Malignant Syndrome" EXACT [] synonym: "neuroleptic malignant syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "NMS" EXACT ABBREVIATION [NCIT:C94829] xref: DOID:14464 {source="MONDO:equivalentTo"} xref: ICD10CM:G21.0 {source="Orphanet:94093/e", source="MONDO:equivalentTo", source="Orphanet:94093", source="DOID:14464"} xref: ICD9:333.92 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14464"} xref: MedDRA:10029282 {source="Orphanet:94093/e", source="Orphanet:94093"} xref: MESH:D009459 {source="Orphanet:94093/e", source="MONDO:equivalentTo", source="Orphanet:94093", source="DOID:14464"} xref: MeSH:D009459 xref: MONDO:0019790 xref: NCIT:C94829 {source="MONDO:equivalentTo", source="DOID:14464"} xref: NCIt:C94829 xref: Orphanet:94093 {source="MONDO:equivalentTo", source="DOID:14464"} xref: SCTID:15244003 {source="MONDO:equivalentTo", source="DOID:14464"} xref: SNOMEDCT:15244003 xref: UMLS:C0027849 {source="Orphanet:94093/e", source="MONDO:equivalentTo", source="Orphanet:94093", source="DOID:14464", source="NCIT:C94829"} is_a: EFO:0000618 {source="MONDO:0018753-obsoleted"} ! nervous system disease is_a: MONDO:0002254 {source="NCIT:C94829"} ! syndromic disease property_value: closeMatch http://identifiers.org/meddra/10029282 property_value: exactMatch DOID:14464 property_value: exactMatch http://identifiers.org/mesh/D009459 property_value: exactMatch http://identifiers.org/snomedct/15244003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027849 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G21.0 property_value: exactMatch NCIT:C94829 property_value: exactMatch Orphanet:94093 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7195/neuroleptic-malignant-syndrome xsd:anyURI {source="GARD:0007195"} [Term] id: EFO:1001380 name: Niemann-Pick disease def: "A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell." [Wikipedia:Niemann%E2%80%93Pick_disease] subset: gard_rare synonym: "lipoid histiocytosis" EXACT [DOID:14504] synonym: "lipoid histiocytosis (classical phosphatide)" EXACT [DOID:14504] synonym: "Niemann-Pick disease" EXACT [] {comment="preferred label from MONDO"} synonym: "NIEMANN-PICK DISEASE WITH CHOLESTEROL ESTERIFICATION BLOCK" EXACT [] synonym: "Niemann-Pick disease with cholesterol esterification block" EXACT [DOID:14504] synonym: "NIEMANN-PICK DISEASE, SUBACUTE JUVENILE FORM" EXACT [] synonym: "Niemann-Pick disease, subacute juvenile form" EXACT [DOID:14504] synonym: "SPHINGOMYELIN LIPIDOSIS" EXACT [] synonym: "sphingomyelin lipidosis" EXACT [DOID:14504] synonym: "sphingomyelin/cholesterol lipidosis" EXACT [NCIT:C61269] synonym: "Sphingomyelinase Deficiency Disease" EXACT [] synonym: "sphingomyelinase deficiency disease" EXACT [DOID:14504] synonym: "type A Niemann-Pick disease" NARROW [DOID:14504] xref: DOID:14504 {source="MONDO:equivalentTo"} xref: ICD10:E75.24 xref: MedDRA:10029403 xref: MESH:D009542 {source="DOID:14504", source="MONDO:equivalentTo"} xref: MeSH:D052536 xref: MONDO:0001982 xref: NCIT:C61269 {source="DOID:14504", source="MONDO:equivalentTo"} xref: NCIt:C61269 xref: SCTID:58459009 {source="DOID:14504", source="MONDO:equivalentTo"} xref: UMLS:C0028064 {source="DOID:14504", source="NCIT:C61269", source="MONDO:equivalentTo"} xref: Wikipedia:Niemann–Pick_disease is_a: MONDO:0015531 {source="DOID:14504", source="MESH:D009542"} ! non-Langerhans cell histiocytosis is_a: MONDO:0019255 {source="DOID:14504", source="MESH:D009542", source="NCIT:C61269"} ! sphingolipidosis is_a: Orphanet:79204 ! Lipid storage disease property_value: exactMatch DOID:14504 property_value: exactMatch http://identifiers.org/mesh/D009542 property_value: exactMatch http://identifiers.org/snomedct/58459009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0028064 property_value: exactMatch NCIT:C61269 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001381 name: Nocturnal Paroxysmal Dystonia def: "A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night. (Neurology 1992 Jul;42(7 Suppl 6):61-67; Adams et al., Principles of Neurology, 6th ed, p391)" [] xref: MeSH:D020183 is_a: Orphanet:306768 ! Rare paroxysmal movement disorder is_a: Orphanet:391799 ! Rare genetic dystonia property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001382 name: Obesity Hypoventilation Syndrome def: "Hypoventilation syndrome in very obese persons with excessive adipose tissue around the abdomen and diaphragm is characterized by diminished to absent ventilatory chemoresponsiveness; chronic hypoxia; hypercapnia; polycythemia; and long periods of sleep during day and night (hypersomnolence). It is a condition often related to obstructive sleep apnea but can occur separately." [MESH:D010845] def: "HYPOVENTILATION syndrome in very obese persons with excessive ADIPOSE TISSUE around the ABDOMEN and DIAPHRAGM. It is characterized by diminished to absent ventilatory chemoresponsiveness; chronic HYPOXIA; HYPERCAPNIA; POLYCYTHEMIA; and long periods of sleep during day and night (HYPERSOMNOLENCE). It is a condition often related to OBSTRUCTIVE SLEEP APNEA but can occur separately." [] synonym: "obesity-hypoventilation syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "obesity-hypoventilation syndrome" EXACT [OMIM:257500] synonym: "Pickwickian syndrome" RELATED [OMIM:257500] xref: ICD9:786.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10064205 xref: MESH:D010845 {source="MONDO:equivalentTo"} xref: MeSH:D010845 xref: MONDO:0009763 xref: OMIM:257500 {source="MONDO:equivalentTo"} xref: SCTID:190966007 {source="MONDO:equivalentTo"} xref: UMLS:C0031880 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:257500"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: EFO:0000684 ! respiratory system disease property_value: exactMatch http://identifiers.org/mesh/D010845 property_value: exactMatch http://identifiers.org/snomedct/190966007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031880 property_value: exactMatch https://omim.org/entry/257500 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001383 name: Opsoclonus-Myoclonus Syndrome def: "A neurological condition that is characterized by uncontrolled rapid irregular movements of the eye (OPSOCLONUS) and the muscle (MYOCLONUS) causing unsteady, trembling gait. It is also known as dancing eyes-dancing feet syndrome and is often associated with neoplasms, viral infections, or autoimmune disorders involving the nervous system." [] def: "Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders." [Orphanet:1183] subset: ordo_disease {source="Orphanet:1183"} synonym: "Ataxo-opso-myoclonus syndrome" EXACT [Orphanet:1183] synonym: "dancing eye syndrome" EXACT [Orphanet:1183] synonym: "dancing eye-dancing feet syndrome" EXACT [Orphanet:1183] synonym: "Kinsbourne syndrome" EXACT [Orphanet:1183] synonym: "oma syndrome" EXACT [Orphanet:1183] synonym: "OMS" EXACT ABBREVIATION [Orphanet:1183] synonym: "opsoclonus myoclonus syndrome" EXACT [NCIT:C4686] synonym: "opsoclonus-myoclonus syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "opsoclonus-myoclonus-ataxia syndrome" EXACT [Orphanet:1183] synonym: "paraneoplastic opsoclonus-myoclonus" EXACT [Orphanet:1183] synonym: "paraneoplastic opsoclonus-myoclonus-ataxia syndrome" EXACT [Orphanet:1183] synonym: "POMA syndrome" EXACT [Orphanet:1183] xref: ICD9:379.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10053854 {source="Orphanet:1183/e", source="Orphanet:1183"} xref: MESH:D053578 {source="Orphanet:1183/e", source="MONDO:equivalentTo", source="Orphanet:1183"} xref: MeSH:D053578 xref: MONDO:0015247 xref: NCIT:C4686 {source="MONDO:equivalentTo"} xref: NCIt:C4686 xref: ORDO:Orphanet_1183 xref: Orphanet:1183 {source="MONDO:equivalentTo"} xref: SCTID:230350000 {source="MONDO:equivalentTo"} xref: SNOMEDCT:230350000 xref: UMLS:C0393626 {source="Orphanet:1183/e", source="MONDO:equivalentTo", source="NCIT:C4686", source="Orphanet:1183"} is_a: EFO:0003966 ! eye disease is_a: EFO:0004280 {source="MONDO:0017652-obsoleted"} ! movement disorder is_a: MONDO:0015144 {source="Orphanet:1183"} ! brain inflammatory disease is_a: MONDO:0018215 {source="MONDO:Redundant", source="Orphanet:1183"} ! paraneoplastic neurologic syndrome property_value: closeMatch http://identifiers.org/meddra/10053854 property_value: exactMatch http://identifiers.org/mesh/D053578 property_value: exactMatch http://identifiers.org/snomedct/230350000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393626 property_value: exactMatch NCIT:C4686 property_value: exactMatch Orphanet:1183 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001384 name: Panniculitis, Peritoneal def: "INFLAMMATION of the underlying layer of ADIPOSE TISSUE (panniculus) of the PERITONEUM, usually of the MESENTERY or the OMENTUM. There are several forms with various names and are usually characterized by infiltration of LYMPHOCYTES and NEUTROPHILS, fat NECROSIS, and FIBROSIS." [] xref: MeSH:D015436 is_a: EFO:0009541 ! disease of peritoneum is_a: EFO:1000746 ! panniculitis relationship: RO:0000056 GO:0006954 ! participates_in inflammatory response property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001385 name: Paralysis, Obstetric def: "Paralysis of an infant resulting from injury received at birth. (From Dorland, 27th ed)" [] synonym: "obstetric paralysis" EXACT [] xref: MeSH:D010246 is_a: EFO:0000546 ! injury is_a: EFO:0000618 ! nervous system disease is_a: EFO:0010238 ! perinatal disease property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001386 name: Pasteurellaceae Infections def: "Infections with bacteria of the family PASTEURELLACEAE." [] xref: DOID:50371 xref: MeSH:D016871 is_a: EFO:0000771 ! bacterial disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001387 name: Peliosis Hepatis def: "A vascular disease of the LIVER characterized by the occurrence of multiple blood-filled CYSTS or cavities. The cysts are lined with ENDOTHELIAL CELLS; the cavities lined with hepatic parenchymal cells (HEPATOCYTES). Peliosis hepatis has been associated with use of anabolic steroids (ANABOLIC AGENTS) and certain drugs." [] def: "A vascular disease of the liver characterized by the occurrence of multiple blood-filled cysts or cavities. The cysts are lined with endothelial cells; the cavities lined with hepatic parenchymal cells (hepatocytes). Peliosis hepatis has been associated with use of anabolic steroids (anabolic agents) and certain drugs." [MESH:D010382] synonym: "hepatic peliosis" EXACT [DOID:914] synonym: "peliosis hepatis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:914 {source="MONDO:equivalentTo"} xref: ICD10:K76.4 xref: ICD10CM:K76.4 {source="DOID:914", source="MONDO:equivalentTo"} xref: MedDRA:10034229 xref: MESH:D010382 {source="DOID:914", source="MONDO:equivalentTo"} xref: MeSH:D010382 xref: MONDO:0004717 xref: SCTID:58008004 {source="DOID:914", source="MONDO:equivalentTo"} xref: SNOMEDCT:58008004 xref: UMLS:C0030781 {source="DOID:914", source="MONDO:equivalentTo"} is_a: MONDO:0002405 {source="DOID:914"} ! hepatic vascular disorder property_value: exactMatch DOID:914 property_value: exactMatch http://identifiers.org/mesh/D010382 property_value: exactMatch http://identifiers.org/snomedct/58008004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030781 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K76.4 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001388 name: Pelvic Inflammatory Disease def: "A spectrum of inflammation involving the female upper genital tract and the supporting tissues. It is usually caused by an ascending infection of organisms from the endocervix. Infection may be confined to the uterus (ENDOMETRITIS), the FALLOPIAN TUBES; (SALPINGITIS); the ovaries (OOPHORITIS), the supporting ligaments (PARAMETRITIS), or may involve several of the above uterine appendages. Such inflammation can lead to functional impairment and infertility." [] def: "Pelvic inflammatory disease (PID) is an acute or chronic inflammation in the pelvic cavity. It is most commonly caused by sexually transmitted diseases, including chlamydia and gonorrhea that have ascended into the uterus, fallopian tubes, or ovaries as a result of intercourse or childbirth, or of surgical procedures, including insertion of IUDs or abortion. PID may be either symptomatic or asymptomatic. It may cause infertility and it may raise the risk of ectopic pregnancy. PID is a disease associated with HIV infection." [NCIT:C3889] synonym: "disease (PID), pelvic inflammatory" RELATED [NCIT:C3889] synonym: "inflammatory disease (PID), pelvic" RELATED [NCIT:C3889] synonym: "pelvic infection" RELATED [NCIT:C3889] synonym: "pelvic inflammatory disease" EXACT [NCIT:C3889] synonym: "pelvic inflammatory disease" EXACT [] {comment="preferred label from MONDO"} synonym: "pelvic inflammatory disease, (PID)" RELATED [NCIT:C3889] synonym: "PID" EXACT ABBREVIATION [DOID:1003] synonym: "PID, pelvic inflammatory disease" RELATED [NCIT:C3889] xref: DOID:1003 {source="MONDO:equivalentTo"} xref: ICD10:N70 xref: ICD10:N73 xref: ICD10CM:N70-N77 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="DOID:1003", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:614-616.99 {source="DOID:1003"} xref: ICD9:614.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:614.9 {source="DOID:1003", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10034254 xref: MESH:D000292 {source="DOID:1003", source="MONDO:equivalentTo"} xref: MeSH:D000292 xref: MONDO:0000922 xref: NCIT:C3889 {source="DOID:1003", source="MONDO:equivalentTo"} xref: NCIt:C3889 xref: SCTID:198130006 {source="DOID:1003", source="MONDO:equivalentTo"} xref: UMLS:C0242172 {source="DOID:1003", source="MONDO:equivalentTo", source="NCIT:C3889"} is_a: EFO:0009549 {source="DOID:1003", source="MESH:D000292/inferred", source="MONDO:Redundant", source="NCIT:C3889/inferred"} ! female reproductive system disease is_a: EFO:0009903 ! inflammatory disease relationship: RO:0000056 GO:0006954 ! participates_in inflammatory response property_value: exactMatch DOID:1003 property_value: exactMatch http://identifiers.org/mesh/D000292 property_value: exactMatch http://identifiers.org/snomedct/198130006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242172 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/N70-N77 property_value: exactMatch NCIT:C3889 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001389 name: Peptic ulcer perforation def: "Penetration of a PEPTIC ULCER through the wall of DUODENUM or STOMACH allowing the leakage of luminal contents into the PERITONEAL CAVITY." [] def: "Penetration of a peptic ulcer through the wall of duodenum or stomach allowing the leakage of luminal contents into the peritoneal cavity." [MESH:D010439] synonym: "acute peptic ulcer with perforation" EXACT [DOID:752] synonym: "peptic ulcer perforation" EXACT [] {comment="preferred label from MONDO"} synonym: "peptic ulcer with perforation" EXACT [DOID:752] synonym: "perforated peptic ulcer" EXACT [DOID:752] xref: DOID:752 {source="MONDO:equivalentTo"} xref: MedDRA:10034354 xref: MedDRA:10034358 xref: MESH:D010439 {source="MONDO:equivalentTo", source="DOID:752"} xref: MeSH:D010439 xref: MONDO:0004260 xref: SCTID:79118000 {source="MONDO:equivalentTo"} xref: SNOMEDCT:88169003 xref: UMLS:C0030925 {source="MONDO:equivalentTo", source="DOID:752"} xref: UMLS:C0267291 {source="MONDO:equivalentTo"} is_a: MONDO:0004247 {source="DOID:752", source="MESH:D010439"} ! peptic ulcer disease property_value: exactMatch DOID:752 property_value: exactMatch http://identifiers.org/mesh/D010439 property_value: exactMatch http://identifiers.org/snomedct/79118000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030925 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267291 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001390 name: Peri-Implantitis def: "An inflammatory process with loss of supporting bone in the tissues surrounding functioning DENTAL IMPLANTS." [] xref: MedDRA:10078781 xref: MeSH:D057873 xref: SNOMEDCT:699422003 is_a: EFO:1001047 ! mouth disease property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001391 name: Periapical Periodontitis def: "Inflammation of the PERIAPICAL TISSUE. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is PERIAPICAL GRANULOMA. Suppurative inflammation is PERIAPICAL ABSCESS." [] def: "Inflammation of the periapical tissue. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is periapical granuloma. Suppurative inflammation is periapical abscess." [MESH:D010485] synonym: "apical periodontitis" EXACT [DOID:823] synonym: "periapical periodontitis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:823 {source="MONDO:equivalentTo"} xref: MedDRA:10076250 xref: MESH:D010485 {source="DOID:823", source="MONDO:equivalentTo"} xref: MeSH:D010485 xref: MONDO:0004508 xref: SCTID:39273001 {source="DOID:823", source="MONDO:equivalentTo"} xref: UMLS:C0031030 {source="DOID:823", source="MONDO:equivalentTo"} is_a: EFO:0000649 {source="DOID:823", source="EFO:1001391", source="MESH:D010485"} ! periodontitis property_value: exactMatch DOID:823 property_value: exactMatch http://identifiers.org/mesh/D010485 property_value: exactMatch http://identifiers.org/snomedct/39273001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031030 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001392 name: Perimeningeal Infections def: "Infectious processes, including abscesses, effusions, and empyemas which occur in the epidural or subdural spaces surrounding the brain and spinal cord." [] xref: MeSH:D020819 is_a: EFO:0005741 ! infectious disease property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001393 name: Periodontal Pocket def: "An abnormal extension of a gingival sulcus accompanied by the apical migration of the epithelial attachment and bone resorption." [] xref: MeSH:D010514 xref: NCIt:C62547 xref: SNOMEDCT:109629007 is_a: EFO:1001047 ! mouth disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001394 name: Peritoneal Fibrosis def: "Disorder characterized by a wide range of structural changes in PERITONEUM, resulting from fibrogenic or inflammatory processes. Peritoneal fibrosis is a common complication in patients receiving PERITONEAL DIALYSIS and contributes to its gradual decrease in efficiency." [] xref: MedDRA:10034665 xref: MeSH:D056627 xref: SNOMEDCT:95550001 is_a: EFO:0006890 ! fibrosis is_a: EFO:0009541 ! disease of peritoneum intersection_of: EFO:0006890 ! fibrosis intersection_of: EFO:0000784 UBERON:0002358 ! has_disease_location peritoneum property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001395 name: Phlebitis def: "Inflammation of a vein, often a vein in the leg. Phlebitis associated with a blood clot is called (THROMBOPHLEBITIS)." [] def: "Inflammation of a vein." [NCIT:P378] synonym: "inflammation of vein" EXACT [] synonym: "phlebitis" EXACT [] {comment="preferred label from MONDO"} synonym: "vein inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:864 {source="MONDO:equivalentTo"} xref: ICD10:I80 xref: MedDRA:10034879 xref: MESH:D010689 {source="DOID:864", source="MONDO:equivalentTo"} xref: MeSH:D010689 xref: MONDO:0004625 xref: NCIT:C38003 {source="DOID:864", source="MONDO:equivalentTo"} xref: NCIt:C38003 xref: SCTID:61599003 {source="DOID:864", source="MONDO:equivalentTo"} xref: SNOMEDCT:61599003 is_a: EFO:0006803 ! vasculitis is_a: MONDO:0004634 {source="DOID:864", source="MONDO:Redundant"} ! vein disorder property_value: exactMatch DOID:864 property_value: exactMatch http://identifiers.org/mesh/D010689 property_value: exactMatch http://identifiers.org/snomedct/61599003 property_value: exactMatch NCIT:C38003 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001396 name: Pinta def: "An infectious disease of the skin caused by Treponema carateum that occurs only in the western hemisphere. Age of onset is between 10 and 20 years of age. This condition is characterized by marked changes in the skin color and is believed to be transmitted by direct person-to-person contact." [] xref: DOID:1022 xref: ICD10:A67 xref: ICD9:103 xref: MedDRA:10035068 xref: MedDRA:10035069 xref: MeSH:D010874 xref: NCIt:C85011 xref: SNOMEDCT:22064009 is_a: EFO:0005741 ! infectious disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001397 name: Piscirickettsiaceae Infections def: "Infections with bacteria of the family PISCIRICKETTSIACEAE, causing septicemic disease of salmonid fish (SALMONIDAE). Piscirickettsia-like bacteria are also associated with disease syndromes in non-salmonid fish." [] xref: MeSH:D044225 is_a: EFO:0000771 ! bacterial disease property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001398 name: Pneumocephalus def: "Presence of air or gas within the intracranial cavity (e.g., epidural space, subdural space, intracerebral, etc.) which may result from traumatic injuries, fistulous tract formation, erosions of the skull from NEOPLASMS or infection, NEUROSURGICAL PROCEDURES, and other conditions." [] xref: MedDRA:10048736 xref: MeSH:D011007 xref: SNOMEDCT:14415006 is_a: EFO:0005774 ! brain disease property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001399 name: Pneumonia, Aspiration def: "A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper RESPIRATORY TRACT." [] def: "Inflammation of the lungs due to the inhalation of solid or liquid material." [NCIT:C34932] synonym: "aspiration pneumonia" RELATED [NCIT:C34932] synonym: "aspiration pneumonitis" EXACT [] {comment="preferred label from MONDO"} synonym: "chemical pneumonitis" NARROW [DOID:3240] xref: DOID:3240 {source="MONDO:equivalentTo"} xref: DOID:50152 xref: MedDRA:10049783 xref: MESH:D011015 {source="MONDO:relatedTo", source="DOID:3240"} xref: MeSH:D011015 xref: MONDO:0002572 xref: NCIT:C34932 {source="MONDO:equivalentTo"} xref: SCTID:155597006 {source="MONDO:equivalentTo"} xref: SCTID:422588002 {source="MONDO:relatedTo", source="DOID:3240"} xref: UMLS:C0032290 {source="MONDO:relatedTo", source="NCIT:C34932", source="DOID:3240"} xref: UMLS:C1761609 {source="MONDO:equivalentTo"} is_a: EFO:0003106 ! pneumonia is_a: EFO:1001991 {source="NCIT:C34932"} ! pneumonitis property_value: exactMatch DOID:3240 property_value: exactMatch http://identifiers.org/snomedct/155597006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1761609 property_value: exactMatch NCIT:C34932 property_value: excluded_subClassOf MONDO:0005249 {source="DOID:3240"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001400 name: Pneumopericardium def: "Presence of air or gas in the space between the heart and the PERICARDIUM. The degree of respiratory distress depends on the amount of trapped air and circulation blocked in the systemic and pulmonary veins." [] xref: DOID:113 xref: MedDRA:10048731 xref: MeSH:D011026 xref: NCIt:C99019 xref: SNOMEDCT:82542004 is_a: EFO:0007427 ! pericarditis property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001401 name: Pneumovirus Infections def: "Infections with viruses of the genus PNEUMOVIRUS, family PARAMYXOVIRIDAE. This includes RESPIRATORY SYNCYTIAL VIRUS INFECTIONS, an important cause of respiratory disease in humans." [] xref: DOID:1275 xref: MeSH:D018186 is_a: EFO:0000763 ! viral disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001402 name: postencephalitic Parkinson disease def: "A disease believed to be caused by a viral illness that triggers degeneration of the nerve cells in the substantia nigra. Overall, this degeneration leads to clinical parkinsonism." [MONDO:cjm, Wikipedia:Postencephalitic_parkinsonism] def: "Parkinsonism following encephalitis, historically seen as a sequella of encephalitis lethargica (Von Economo Encephalitis). The early age of onset, the rapid progression of symptoms followed by stabilization, and the presence of a variety of other neurological disorders (e.g., sociopathic behavior; TICS; MUSCLE SPASMS; oculogyric crises; hyperphagia; and bizarre movements) distinguish this condition from primary PARKINSON DISEASE. Pathologic features include neuronal loss and gliosis concentrated in the MESENCEPHALON; SUBTHALAMUS; and HYPOTHALAMUS. (From Adams et al., Principles of Neurology, 6th ed, p754)" [] subset: ordo_disease {source="Orphanet:97349"} synonym: "Parkinson Disease, Postencephalitic" EXACT [] synonym: "postencephalitic Parkinson disease" EXACT [] {comment="preferred label from MONDO"} synonym: "Postencephalitic Parkinsonism" EXACT [] synonym: "Postencephalitic parkinsonism" EXACT [] synonym: "postencephalitic Parkinsonism" EXACT [DOID:14332, NCIT:C34898] synonym: "postencephalitic parkinsonism" EXACT [DOID:14332, MONDO:0019974] synonym: "Postencephalitic parkinsonism (disorder)" EXACT [] xref: DOID:14332 {source="MONDO:equivalentTo"} xref: MESH:D010301 {source="MONDO:equivalentTo", source="DOID:14332"} xref: MeSH:D010301 xref: MONDO:0001945 xref: NCIT:C34898 {source="MONDO:equivalentTo", source="DOID:14332"} xref: Orphanet:97349 {source="MONDO:equivalentTo"} xref: SCTID:19972008 {source="MONDO:equivalentTo", source="DOID:14332"} xref: UMLS:C0030568 {source="MONDO:equivalentTo", source="Orphanet:97349", source="DOID:14332", source="NCIT:C34898"} is_a: EFO:1001175 {source="DOID:14332", source="MESH:D010301", source="NCIT:C34898"} ! secondary Parkinson disease is_a: MONDO:0021095 {source="https://orcid.org/0000-0001-5208-3432"} ! parkinsonian disorder relationship: disease_has_major_feature MONDO:0001627 {source="Orphanet:97349"} ! dementia property_value: exactMatch DOID:14332 property_value: exactMatch http://identifiers.org/mesh/D010301 property_value: exactMatch http://identifiers.org/snomedct/19972008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030568 property_value: exactMatch NCIT:C34898 property_value: exactMatch Orphanet:97349 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001403 name: postpartum thyroiditis def: "A transient autoimmune Inflammatory disorder of thyroid gland that occurs postpartum due to any partum problem. It is characterized by the presence of high titers of autoantibodies against thyroid peroxidase and thyroglobulin. Clinical signs include the triphasic thyroid hormone pattern: beginning with thyrotoxicosis, followed with hypothyroidism, then return to euthyroid state by 1 year postpartum" [MESH:D050032, NCIT:C114389] def: "Transient autoimmune thyroiditis occurring in the POSTPARTUM PERIOD. It is characterized by the presence of high titers of AUTOANTIBODIES against THYROID PEROXIDASE and THYROGLOBULIN. Clinical signs include the triphasic thyroid hormone pattern: beginning with THYROTOXICOSIS, followed with HYPOTHYROIDISM, then return to euthyroid state by 1 year postpartum." [] synonym: "post partum thyroiditis" RELATED [MESH:D050032] synonym: "post-partum thyroiditides" RELATED [MESH:D050032] synonym: "post-partum thyroiditis" RELATED [MESH:D050032] synonym: "postpartum thyroiditides" RELATED [MESH:D050032] synonym: "postpartum thyroiditis" EXACT [] {comment="preferred label from MONDO"} synonym: "postpartum thyroiditis" EXACT [NCIT:C114389] synonym: "thyroiditides, post-partum" RELATED [MESH:D050032] synonym: "thyroiditides, postpartum" RELATED [MESH:D050032] synonym: "thyroiditis, post-partum" RELATED [MESH:D050032] synonym: "thyroiditis, postpartum" RELATED [MESH:D050032] xref: ICD10:O90.5 xref: MedDRA:10080026 xref: MESH:D050032 {source="MONDO:equivalentTo"} xref: MeSH:D050032 xref: MONDO:0044014 xref: NCIT:C114389 {source="MONDO:equivalentTo"} xref: NCIt:C114389 xref: SCTID:52772002 {source="MONDO:equivalentTo"} xref: SNOMEDCT:52772002 xref: UMLS:C0271815 {source="MONDO:equivalentTo", source="NCIT:C114389"} is_a: EFO:0006812 {source="MESH:D050032"} ! autoimmune thyroid disease is_a: EFO:0009683 ! puerperal disorder intersection_of: EFO:0009683 ! puerperal disorder intersection_of: MONDO:0004126 ! thyroiditis property_value: exactMatch http://identifiers.org/mesh/D050032 property_value: exactMatch http://identifiers.org/snomedct/52772002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271815 property_value: exactMatch NCIT:C114389 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001404 name: Postpericardiotomy Syndrome def: "A nonspecific hypersensitivity reaction caused by TRAUMA to the PERICARDIUM, often following PERICARDIOTOMY. It is characterized by PERICARDIAL EFFUSION; high titers of anti-heart antibodies; low-grade FEVER; LETHARGY; loss of APPETITE; or ABDOMINAL PAIN." [] synonym: "post-pericardiotomy syndrome" EXACT [] xref: DOID:386 xref: MedDRA:10059483 xref: MeSH:D011185 xref: NCIt:C111649 is_a: MONDO:0005271 ! allergic disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001405 name: obsolete_Postthrombotic Syndrome property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.13.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplicate of http://www.ebi.ac.uk/efo/EFO_0007452." xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0007452 [Term] id: EFO:1001406 name: Prosthesis-Related Infections def: "Infections resulting from the implantation of prosthetic devices. The infections may be acquired from intraoperative contamination (early) or hematogenously acquired from other sites (late)." [] xref: MedDRA:10065011 xref: MeSH:D016459 is_a: EFO:0005741 ! infectious disease relationship: RO:0000056 EFO:0000544 ! participates_in infection property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001407 name: Puerperal Infection def: "An infection occurring in PUERPERIUM, the period of 6-8 weeks after giving birth." [] def: "An infection occurring in puerperium, the period of 6-8 weeks after giving birth." [MESH:D011645] synonym: "Infection, Puerperal" RELATED [MESH:D011645] synonym: "Infections, Puerperal" RELATED [MESH:D011645] synonym: "Puerperal Infection" RELATED [MESH:D011645] synonym: "puerperal infection" EXACT [] {comment="preferred label from MONDO"} synonym: "Puerperal Infections" RELATED [MESH:D011645] xref: MedDRA:10072652 xref: MESH:D011645 {source="UMLS:C0034041", source="MONDO:equivalentTo"} xref: MeSH:D011645 xref: MONDO:0021742 xref: UMLS:C0034041 {source="MONDO:equivalentTo"} is_a: EFO:0005741 ! infectious disease is_a: EFO:0009683 ! puerperal disorder intersection_of: EFO:0005741 ! infectious disease intersection_of: EFO:0009683 ! puerperal disorder property_value: exactMatch http://identifiers.org/mesh/D011645 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034041 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001408 name: Pulmonary Infarction def: "NECROSIS of lung tissue that is cause by the lack of OXYGEN or blood supply. The most common cause of pulmonary infarction is a blood clot in the lung." [] xref: MedDRA:10037410 xref: MeSH:D054060 xref: NCIt:C50714 xref: SNOMEDCT:64662007 is_a: EFO:0003827 ! pulmonary embolism property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001409 name: Pyomyositis def: "An intramuscular suppuration of the large skeletal muscle groups. It is associated with INFECTION such as STAPHYLOCOCCUS AUREUS and PYODERMA. It was known as a tropical disease but is increasing among the immunocompromised (IMMUNOCOMPROMISED HOST). Symptoms include muscle pain, FEVER, and leucocytosis. It has been diagnosed by MRI SCANS." [] def: "Pyomyositis (PM) is a rare primary bacterial infection of the skeletal muscle, usually resulting from hematogenous spread or due to muscle injury, and characterized by pain and tenderness in the affected muscle, fever and abscess formation." [Orphanet:764] subset: gard_rare {source="GARD:0004614"} subset: ordo_disease {source="Orphanet:764"} synonym: "myositis purulenta tropica" EXACT [Orphanet:764] synonym: "myositis tropicans" EXACT [Orphanet:764] synonym: "PM" EXACT ABBREVIATION [Orphanet:764] synonym: "pyomyositis" EXACT [] {comment="preferred label from MONDO"} synonym: "suppurative myositis" EXACT [Orphanet:764] synonym: "tropical pyomyositis" EXACT [DOID:876, ICD9CM:040.81, Orphanet:764] xref: DOID:876 {source="MONDO:equivalentTo"} xref: ICD10:M60.0 xref: ICD9:040.81 {source="DOID:876", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10037652 {source="Orphanet:764", source="Orphanet:764/e"} xref: MESH:D052880 {source="Orphanet:764", source="DOID:876", source="MONDO:equivalentTo", source="Orphanet:764/e"} xref: MeSH:D052880 xref: MONDO:0019168 xref: NCIT:C128382 {source="MONDO:equivalentTo"} xref: Orphanet:764 {source="MONDO:equivalentTo"} xref: SCTID:65110003 {source="DOID:876", source="MONDO:equivalentTo"} xref: SNOMEDCT:65110003 xref: UMLS:C0041188 {source="Orphanet:764", source="DOID:876", source="MONDO:equivalentTo"} xref: UMLS:C1704275 {source="Orphanet:764", source="MONDO:equivalentTo", source="Orphanet:764/e", source="NCIT:C128382"} is_a: MONDO:0016127 ! bacterial myositis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare property_value: closeMatch http://identifiers.org/meddra/10037652 property_value: exactMatch DOID:876 property_value: exactMatch http://identifiers.org/mesh/D052880 property_value: exactMatch http://identifiers.org/snomedct/65110003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041188 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1704275 property_value: exactMatch NCIT:C128382 property_value: exactMatch Orphanet:764 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4614/pyomyositis xsd:anyURI {source="GARD:0004614"} [Term] id: EFO:1001410 name: Pythiosis def: "A granulomatous disease caused by the aquatic organism PYTHIUM insidiosum and occurring primarily in horses, cattle, dogs, cats, fishes, and rarely in humans. It is classified into three forms: ocular, cutaneous, and arterial." [] synonym: "human pythiosis" EXACT [] xref: MedDRA:10074265 xref: MeSH:D058968 is_a: EFO:0001067 ! parasitic infection property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001411 name: Radiation Pneumonitis def: "Inflammation of the lung due to harmful effects of ionizing or non-ionizing radiation." [] xref: MedDRA:10037765 xref: MeSH:D017564 xref: SNOMEDCT:84004001 xref: UMLS:C0206063 is_a: EFO:1001991 ! pneumonitis property_value: IAO:0000117 "Gautier Koscielny" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001412 name: renal colic def: "A severe intermittent and spasmodic pain in the lower back radiating to the groin, scrotum, and labia which is most commonly caused by a kidney stone (RENAL CALCULUS) passing through the URETER or by other urinary track blockage. It is often associated with nausea, vomiting, fever, restlessness, dull pain, frequent urination, and HEMATURIA." [] xref: ICD10:N23 xref: MedDRA:10038419 xref: MeSH:D056844 xref: NCIt:C78593 xref: SNOMEDCT:7093002 is_a: EFO:0003843 ! pain property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001413 name: Respiratory Syncytial Virus Infection def: "Infection with the respiratory syncytial virus, an RNA virus of the genus Pneumovirus, in the family Paramyxoviridae, which is characterized by the formation of syncytia in tissue culture. It causes minor respiratory infection with rhinitis and cough in adults, but is capable of causing severe bronchitis and bronchopneumonia in young children." [NCIT:C3354] def: "Pneumovirus infections caused by the RESPIRATORY SYNCYTIAL VIRUSES. Humans and cattle are most affected but infections in goats and sheep have been reported." [] synonym: "Human respiratory syncytial virus infection" EXACT [MONDO:patterns/infectious_disease_by_agent] synonym: "infections, Human respiratory syncytial virus" RELATED [MONDO:patterns/infectious_disease_by_agent] synonym: "respiratory syncytial virus infection" EXACT [NCIT:C3354] synonym: "respiratory syncytial virus infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "RSV infection" EXACT [] xref: DOID:1273 {source="MONDO:equivalentTo"} xref: MedDRA:10061603 xref: MESH:D018357 {source="DOID:1273", source="MONDO:equivalentTo"} xref: MeSH:D018357 xref: MONDO:0001577 xref: NCIT:C3354 {source="DOID:1273", source="MONDO:equivalentTo"} xref: NCIt:C3354 xref: SCTID:55735004 {source="DOID:1273", source="MONDO:equivalentTo"} xref: SNOMEDCT:55735004 xref: UMLS:C0035235 {source="DOID:1273", source="MONDO:equivalentTo", source="NCIT:C3354"} is_a: EFO:0007376 ! Mononegavirales infectious disease is_a: MONDO:0024352 {source="NCIT:C3354"} ! viral respiratory tract infection property_value: exactMatch DOID:1273 property_value: exactMatch http://identifiers.org/mesh/D018357 property_value: exactMatch http://identifiers.org/snomedct/55735004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035235 property_value: exactMatch NCIT:C3354 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001414 name: Retrobulbar Hemorrhage def: "Hemorrhage within the orbital cavity, posterior to the eyeball." [] synonym: "ocular retrobulbar hemorrhage" EXACT [] xref: MedDRA:10057575 xref: MeSH:D019315 xref: NCIt:C118745 xref: SNOMEDCT:194179009 is_a: EFO:0003966 ! eye disease property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001415 name: Retropharyngeal Abscess def: "An accumulation of purulent material in the space between the PHARYNX and the CERVICAL VERTEBRAE. This usually results from SUPPURATION of retropharyngeal LYMPH NODES in patients with UPPER RESPIRATORY TRACT INFECTIONS, perforation of the pharynx, or head and neck injuries." [] xref: MedDRA:10038984 xref: MeSH:D017703 xref: SNOMEDCT:18099001 is_a: EFO:0003030 ! abscess property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001416 name: rheumatic fever nodule def: "A small round or oval, mostly subcutaneous nodule made up chiefly of a mass of Aschoff bodies and seen in cases of rheumatic fever. It is differentiated from the RHEUMATOID NODULE which appears in rheumatoid arthritis, most frequently over bony prominences. (From Dorland, 27th ed)" [] synonym: "Aschoff body" EXACT [] synonym: "Aschoff nodule" EXACT [] synonym: "rheumatic Aschoff nodule" EXACT [] synonym: "rheumatic nodule" EXACT [] xref: MeSH:D012215 xref: PMID:8575737 xref: SNOMEDCT:89050001 is_a: EFO:0003765 ! sign or symptom property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001417 name: Rhinitis, Allergic, Perennial def: "Allergic rhinitis caused by indoor allergens and lasting year round." [NCIT:C92189] def: "Inflammation of the mucous membrane of the nose similar to that found in hay fever except that symptoms persist throughout the year. The causes are usually air-borne allergens, particularly dusts, feathers, molds, animal fur, etc." [] synonym: "non-seasonal allergic rhinitis" EXACT [NCIT:C92189] synonym: "nonseasonal allergic rhinitis" EXACT [NCIT:C92189-variant] synonym: "perennial allergic rhinitis" EXACT [] {comment="preferred label from MONDO"} synonym: "perennial allergic rhinitis" EXACT [NCIT:C92189] xref: MESH:D012221 {source="MONDO:equivalentTo"} xref: MeSH:D012221 xref: MONDO:0024332 xref: NCIT:C92189 {source="MONDO:equivalentTo"} xref: NCIt:C92189 xref: SCTID:446096008 {source="MONDO:equivalentTo"} xref: UMLS:C0035457 {source="MONDO:equivalentTo", source="NCIT:C92189"} is_a: EFO:0005854 {source="NCIT:C92189"} ! allergic rhinitis property_value: exactMatch http://identifiers.org/mesh/D012221 property_value: exactMatch http://identifiers.org/snomedct/446096008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035457 property_value: exactMatch NCIT:C92189 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001418 name: Salmonella Infections def: "Infections with bacteria of the genus SALMONELLA." [] xref: MedDRA:10039436 xref: MedDRA:10039438 xref: MeSH:D012480 xref: SNOMEDCT:302231008 is_a: EFO:0000771 ! bacterial disease property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001419 name: Schistosomiasis japonica def: "Schistosomiasis caused by Schistosoma japonicum. It is endemic in the Far East and affects the bowel, liver, and spleen." [] xref: DOID:0050597 xref: MeSH:D012554 is_a: EFO:0001067 ! parasitic infection property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001420 name: Schistosomiasis mansoni def: "Schistosomiasis caused by Schistosoma mansoni. It is endemic in Africa, the Middle East, South America, and the Caribbean and affects mainly the bowel, spleen, and liver." [] xref: ICD10:B65.1 xref: MedDRA:10039609 xref: MeSH:D012555 is_a: EFO:0001067 ! parasitic infection property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001421 name: Serratia Infections def: "Infections with bacteria of the genus SERRATIA." [] xref: MedDRA:10040115 xref: MeSH:D016868 is_a: EFO:0000771 ! bacterial disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001422 name: Sertoli Cell-Only Syndrome def: "A type of male infertility in which no germ cells are visible in any of the biopsied SEMINIFEROUS TUBULES (type I) or in which germ cells are present in a minority of tubules (type II). Clinical features include AZOOSPERMIA, normal VIRILIZATION, and normal chromosomal complement." [] def: "Sertoli cell-only syndrome (SCO syndrome) is a cause of male infertility. In SCO syndrome, only Sertoli cells (cells that nurture the immature sperm) line the seminiferous tubules (tubes inside the testicles where sperm develop). Therefore, there are not any sperm cells present in the seminiferous tubules. Men typically learn they are affected between ages 20-40 years when being evaluated for infertility and are found to have no sperm production (azoospermia). Other signs and symptoms are rare, but in some cases there could be an underlying cause of SCO syndrome that causes other symptoms, such as Klinefelter syndrome. Most cases of SCO syndrome are idiopathic (of unknown cause), but causes may include deletions of genetic information on regions of the Y-chromosome, especially on the azoospermia factor (AZF) region of Y-chromosome. Other causes include exposure to chemicals or toxins, history of radiation therapy, and history of severe trauma. Diagnosis of SCO syndrome is confirmed with testicular biopsy. Although there is currently no effective treatment, assisted reproductive technology may assist some men with SCO syndrome in being able to have children." [https://rarediseases.info.nih.gov/diseases/8406/sertoli-cell-only-syndrome] comment: Editor note: consider moving OMIMPS from azoospermia to here subset: gard_rare {source="GARD:0008406"} synonym: "DEL CASTILLO syndrome" EXACT [DOID:0050457] synonym: "Del Castillo syndrome" RELATED [OMIM:305700] synonym: "Germinal cell aplasia" EXACT [DOID:0050457, OMIM:305700] synonym: "Sertoli cell-only syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Sertoli cell-only syndrome" EXACT [OMIM:305700] synonym: "spermatogenic failure, x-linked, 1" EXACT [] synonym: "x-linked spermatogenic failture type 1" EXACT [] xref: DOID:0050457 {source="MONDO:equivalentTo"} xref: ICD9:752.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D054331 {source="MONDO:equivalentTo", source="DOID:0050457"} xref: MeSH:D054331 xref: MONDO:0010595 xref: NCIT:C168988 {source="MONDO:equivalentTo"} xref: OMIM:305700 xref: SCTID:73465006 {source="MONDO:equivalentTo", source="DOID:0050457"} is_a: EFO:0000279 {source="DC-OMIM:305700", source="OMIM:305700"} ! azoospermia is_a: MONDO:0018393 ! male infertility with azoospermia or oligozoospermia due to single gene mutation property_value: exactMatch DOID:0050457 property_value: exactMatch http://identifiers.org/mesh/D054331 property_value: exactMatch http://identifiers.org/snomedct/73465006 property_value: exactMatch NCIT:C168988 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8406/sertoli-cell-only-syndrome xsd:anyURI {source="GARD:0008406"} [Term] id: EFO:1001423 name: Shaken Baby Syndrome def: "Brain injuries resulted from vigorous shaking of an infant or young child held by the chest, shoulders, or extremities causing extreme cranial acceleration. It is characterized by the intracranial and intraocular hemorrhages with no evident external trauma. Serious cases may result in death." [] xref: MedDRA:10064222 xref: MeSH:D038642 xref: SNOMEDCT:102458000 is_a: EFO:0005774 ! brain disease property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001424 name: skin epithelioid hemangioma def: "A hemangioma arising from the skin. It is characterized by the presence of epithelioid endothelial cells." [NCIT:C7393] synonym: "angiolymphoid cutaneous hyperplasia" EXACT [DOID:14308, NCIT:C7393] synonym: "angiolymphoid hyperplasia of skin" EXACT [NCIT:C7393] synonym: "angiolymphoid hyperplasia of the skin" EXACT [NCIT:C7393] synonym: "epithelioid hemangioma of skin" EXACT [NCIT:C7393] synonym: "epithelioid hemangioma of the skin" EXACT [NCIT:C7393] synonym: "histiocytoid hemangioma of skin" EXACT [NCIT:C7393] synonym: "histiocytoid hemangioma of the skin" EXACT [NCIT:C7393] synonym: "histiocytoid hemangioma of zone of skin" EXACT [MONDO:design_pattern] synonym: "skin epithelioid hemangioma" EXACT [] {comment="preferred label from MONDO"} synonym: "skin epithelioid hemangioma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "skin epithelioid hemangioma" EXACT [NCIT:C7393] synonym: "zone of skin histiocytoid hemangioma" EXACT [MONDO:patterns/location] xref: DOID:14308 {source="MONDO:equivalentTo"} xref: EFO:1001424 {source="MONDO:equivalentTo"} xref: MedDRA:10048637 xref: MESH:D000796 {source="DOID:14308", source="MONDO:relatedTo"} xref: MONDO:0001939 xref: NCIT:C7393 {source="DOID:14308", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C7393 {source="DOID:14308", source="MONDO:equivalentTo", source="exact-label-match"} xref: SCTID:400131007 {source="DOID:14308", source="MONDO:equivalentTo"} xref: UMLS:C0002989 {source="DOID:14308", source="MONDO:equivalentTo", source="NCIT:C7393"} is_a: MONDO:0003110 {source="DOID:14308", source="MONDO:Redundant", source="NCIT:C7393"} ! skin hemangioma is_a: MONDO:0021169 {source="DOID:14308", source="MONDO:Redundant", source="NCIT:C7393"} ! epithelioid hemangioma property_value: closeMatch http://identifiers.org/snomedct/254791004 property_value: exactMatch DOID:14308 property_value: exactMatch DOID:14308 property_value: exactMatch http://identifiers.org/snomedct/400131007 property_value: exactMatch http://identifiers.org/snomedct/400131007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002989 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002989 property_value: exactMatch NCIT:C7393 property_value: exactMatch NCIT:C7393 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:1001425 name: Skull Fractures def: "Fractures of the skull which may result from penetrating or nonpenetrating head injuries or rarely BONE DISEASES (see also FRACTURES, SPONTANEOUS). Skull fractures may be classified by location (e.g., SKULL FRACTURE, BASILAR), radiographic appearance (e.g., linear), or based upon cranial integrity (e.g., SKULL FRACTURE, DEPRESSED)." [] xref: ICD10:S02 xref: MedDRA:10040958 xref: MedDRA:10040961 xref: MeSH:D012887 is_a: EFO:0003931 ! bone fracture property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001426 name: Spinal Cord Ischemia def: "Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with ARTERIOSCLEROSIS, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to INFARCTION of spinal cord tissue." [] def: "Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with arteriosclerosis, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to infarction of spinal cord tissue." [MESH:D020760] synonym: "cord ischemia, spinal" RELATED [MESH:D020760] synonym: "cord Ischemias, spinal" RELATED [MESH:D020760] synonym: "experimental spinal cord ischemia" RELATED [MESH:D020760] synonym: "ischaemic myelopathies" RELATED OMO:0003005 [] synonym: "ischaemic myelopathy" RELATED OMO:0003005 [] synonym: "ischemia, spinal cord" RELATED [MESH:D020760] synonym: "ischemias, spinal cord" RELATED [MESH:D020760] synonym: "ischemic myelopathies" RELATED [MESH:D020760] synonym: "ischemic myelopathy" RELATED [MESH:D020760] synonym: "myelopathies, ischaemic" RELATED OMO:0003005 [] synonym: "myelopathies, ischemic" RELATED [MESH:D020760] synonym: "myelopathy, ischaemic" RELATED OMO:0003005 [] synonym: "myelopathy, ischemic" RELATED [MESH:D020760] synonym: "spinal cord ischemia" EXACT [] {comment="preferred label from MONDO"} synonym: "spinal cord ischemia, experimental" RELATED [MESH:D020760] synonym: "spinal cord Ischemias" RELATED [MESH:D020760] xref: DOID:324 xref: MedDRA:10054635 xref: MESH:D020760 {source="MONDO:equivalentTo"} xref: MeSH:D020760 xref: MONDO:0020688 xref: SNOMEDCT:371029002 is_a: EFO:0000712 ! stroke property_value: exactMatch http://identifiers.org/mesh/D020760 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001428 name: Subacute Combined Degeneration def: "A neuropathy due to VITAMIN B 12 DEFICIENCY or to excessive NITROUS OXIDE inhalation. It is associated with overproduction of the myelinolytic TUMOR NECROSIS FACTOR-ALPHA." [] xref: MeSH:D052879 is_a: EFO:0004149 ! neuropathy property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001429 name: Subdural Effusion def: "Leakage and accumulation of CEREBROSPINAL FLUID in the subdural space which may be associated with an infectious process; CRANIOCEREBRAL TRAUMA; BRAIN NEOPLASMS; INTRACRANIAL HYPOTENSION; and other conditions." [] xref: MedDRA:10054797 xref: MeSH:D013353 is_a: EFO:0000618 ! nervous system disease property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001430 name: Sublingual Gland Neoplasms def: "A neoplasm (disease) that involves the sublingual gland." [MONDO:patterns/location] def: "Neoplasms of the sublingual glands." [] synonym: "neoplasm of sublingual gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3392] synonym: "neoplasm of the sublingual gland" EXACT [NCIT:C3392] synonym: "sublingual gland neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "sublingual gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "sublingual gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3392] synonym: "sublingual gland tumour" EXACT OMO:0003005 [] synonym: "tumor of sublingual gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3392] synonym: "tumor of the sublingual gland" EXACT [NCIT:C3392] synonym: "tumour of sublingual gland" EXACT OMO:0003005 [] synonym: "tumour of the sublingual gland" EXACT OMO:0003005 [] xref: MESH:D013362 {source="MONDO:equivalentTo"} xref: MeSH:D013362 xref: MONDO:0021242 xref: NCIT:C3392 {source="MONDO:equivalentTo"} xref: SCTID:126790004 {source="MONDO:equivalentTo"} xref: UMLS:C0038554 {source="NCIT:C3392", source="MONDO:equivalentTo"} is_a: MONDO:0021368 {source="MONDO:Redundant", source="NCIT:C3392"} ! neoplasm of major salivary gland property_value: exactMatch http://identifiers.org/mesh/D013362 property_value: exactMatch http://identifiers.org/snomedct/126790004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038554 property_value: exactMatch NCIT:C3392 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001431 name: suppurative thyroiditis def: "Acute inflammatory disease of the THYROID GLAND due to infections by BACTERIA; FUNGI; or other microorganisms. Symptoms include tender swelling, FEVER, and often with LEUKOCYTOSIS." [] def: "Acute inflammatory disease of the thyroid gland due to infections by bacteria; fungi; or other microorganisms. Symptoms include tender swelling, fever, and often with leukocytosis." [MESH:D013969] synonym: "abscess of thyroid" BROAD [https://orcid.org/0000-0002-8169-9049, OMOP:4010825, SCTID:102452004] synonym: "acute suppurative thyroiditis" EXACT [DOID:14350] synonym: "acute suppurative thyroiditis (disorder)" EXACT [] synonym: "infectious thyroiditis" EXACT [DOID:14350] synonym: "Infectious thyroiditis (disorder)" EXACT [] synonym: "Suppurative thyroiditis" EXACT [] synonym: "suppurative thyroiditis" EXACT [DOID:14350] synonym: "suppurative thyroiditis" EXACT [] {comment="preferred label from MONDO"} synonym: "Thyroiditis, Suppurative" EXACT [] xref: DOID:14350 {source="MONDO:equivalentTo"} xref: ICD10CM:E06.0 {source="DOID:14350", source="MONDO:directSiblingOf"} xref: MESH:D013969 {source="MONDO:equivalentTo", source="DOID:14350"} xref: MeSH:D013969 xref: MONDO:0001947 xref: NCIT:C129724 {source="MONDO:equivalentTo"} xref: SCTID:25476006 {source="MONDO:equivalentTo", source="DOID:14350"} xref: UMLS:C0040150 {source="MONDO:equivalentTo", source="DOID:14350"} is_a: MONDO:0004126 {source="DOID:14350", source="MESH:D013969", source="NCIT:C129724"} ! thyroiditis property_value: exactMatch DOID:14350 property_value: exactMatch http://identifiers.org/mesh/D013969 property_value: exactMatch http://identifiers.org/snomedct/25476006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040150 property_value: exactMatch NCIT:C129724 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001432 name: Tachycardia, Reciprocating def: "Abnormally rapid heartbeats caused by reentrant conduction over the accessory pathways between the HEART ATRIA and the HEART VENTRICLES. The impulse can also travel in the reverse direction, as in some cases, atrial impulses travel to the ventricles over the accessory pathways and back to the atria over the BUNDLE OF HIS and the ATRIOVENTRICULAR NODE." [] xref: MedDRA:10038012 xref: MeSH:D054139 is_a: EFO:0004269 ! cardiac arrhythmia property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001433 name: Taeniasis def: "A parasitic infection caused by tapeworms of the genus Taenia. Humans are infected by eating undercooked or raw meat of infected animals. It is usually an asymptomatic infection and patients may become aware of the infection by noticing segments of the tapeworm in their feces. If symptoms are present, they include nausea, abdominal pain, indigestion, constipation, or diarrhea." [NCIT:C85180] def: "Infection with tapeworms of the genus Taenia." [] synonym: "beef tapeworm infection" RELATED [DOID:0050596] synonym: "infection by taenia saginata" RELATED [MONDO:cjm] synonym: "infection by Taeniarhynchus saginatus" RELATED [DOID:0050596] synonym: "infections, Taenia" RELATED [MONDO:patterns/infectious_disease_by_agent] synonym: "Taenia infection" EXACT [MONDO:patterns/infectious_disease_by_agent] synonym: "taenia saginata infection" EXACT [MONDO:cjm] synonym: "Taenia saginata infectious disease" RELATED [DOID:0050596] synonym: "taeniasis" EXACT [] {comment="preferred label from MONDO"} synonym: "unarmed tapeworm infection" RELATED [MONDO:cjm] xref: DOID:0050596 {source="MONDO:equivalentTo"} xref: DOID:50596 xref: ICD10:B68 xref: ICD10CM:B68 {source="MONDO:equivalentTo"} xref: ICD9:123.2 {source="DOID:0050596", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10043095 xref: MedDRA:10043096 xref: MESH:D013622 {source="MONDO:equivalentTo"} xref: MeSH:D013622 xref: MONDO:0000367 xref: NCIT:C85180 {source="MONDO:equivalentTo"} xref: NCIt:C85180 xref: SCTID:69163003 {source="DOID:0050596", source="MONDO:equivalentTo"} xref: SNOMEDCT:76172008 xref: UMLS:C0152073 {source="DOID:0050596", source="MONDO:equivalentTo"} is_a: MONDO:0024271 ! intestinal helminthiasis is_a: MONDO:0042488 ! Cestode infectious disease property_value: exactMatch DOID:0050596 property_value: exactMatch http://identifiers.org/mesh/D013622 property_value: exactMatch http://identifiers.org/snomedct/69163003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152073 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B68 property_value: exactMatch NCIT:C85180 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001434 name: Tendinopathy def: "Clinical syndrome describing overuse tendon injuries characterized by a combination of PAIN, diffuse or localized swelling, and impaired performance. Distinguishing tendinosis from tendinitis is clinically difficult and can be made only after histopathological examination." [] def: "Disorders that are causes by overuse of tendons." [PMID:19188560] synonym: "disease of tendon" EXACT [MONDO:design_pattern, MONDO:patterns/location_top] synonym: "disease or disorder of tendon" EXACT [] synonym: "disorder of tendon" EXACT [MONDO:design_pattern, MONDO:patterns/location_top] synonym: "tendinopathy" EXACT [] {comment="preferred label from MONDO"} synonym: "tendon disease" EXACT [MONDO:design_pattern] synonym: "tendon disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "tendonopathy" EXACT [] synonym: "tendonosis" EXACT [] xref: DOID:971 xref: MedDRA:10080130 xref: MESH:D052256 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: MeSH:D052256 xref: MONDO:0100010 xref: SCTID:68172002 {source="MONDO:equivalentTo"} is_a: EFO:0004260 ! bone disease is_a: EFO:1001986 {source="MONDO:Redundant"} ! connective tissue disease property_value: exactMatch http://identifiers.org/mesh/D052256 property_value: exactMatch http://identifiers.org/snomedct/68172002 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2018-07-17T15:51:39Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000117 "Gautier Koscielny" xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5537 xsd:anyURI [Term] id: EFO:1001435 name: tenosynovitis def: "Inflammation of the synovial lining of a tendon sheath. Causes include trauma, tendon stress, bacterial disease (gonorrhea, tuberculosis), rheumatic disease, and gout. Common sites are the hand, wrist, shoulder capsule, hip capsule, hamstring muscles, and Achilles tendon. The tendon sheaths become inflamed and painful, and accumulate fluid. Joint mobility is usually reduced." [MESH:D013717] synonym: "Inflammation of tendon sheath" EXACT [DOID:970] synonym: "inflammation of tendon sheath" EXACT [] synonym: "tendon sheath inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "Tenosynovitides" EXACT [MESH:D013717] synonym: "tenosynovitis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:970 {source="MONDO:equivalentTo"} xref: ICD10:M65 xref: ICD10:M67 xref: MedDRA:10043261 xref: MESH:D013717 {source="MONDO:equivalentTo", source="DOID:970"} xref: MeSH:D013717 xref: MONDO:0004855 xref: SCTID:67801009 {source="MONDO:equivalentTo", source="DOID:970"} xref: SNOMEDCT:67801009 xref: UMLS:C0039520 {source="MONDO:equivalentTo", source="DOID:970"} is_a: EFO:1000999 {source="DOID:970"} ! joint disease is_a: MONDO:0004857 {source="DOID:970", source="MESH:D013717", source="MONDO:Redundant"} ! tendinitis is_a: MONDO:0024876 ! tendon sheath disorder relationship: RO:0000056 GO:0006954 ! participates_in inflammatory response property_value: exactMatch DOID:970 property_value: exactMatch http://identifiers.org/mesh/D013717 property_value: exactMatch http://identifiers.org/snomedct/67801009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039520 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001436 name: thyroid nodule def: "A small circumscribed mass in the THYROID GLAND that can be of neoplastic growth or non-neoplastic abnormality. It lacks a well-defined capsule or glandular architecture. Thyroid nodules are often benign but can be malignant. The growth of nodules can lead to a multinodular goiter (GOITER, NODULAR)." [] synonym: "Nodule of the Thyroid gland" EXACT [] synonym: "Thyroid Nodule" EXACT [] synonym: "Thyroid nodule" EXACT [] synonym: "Thyroid nodule (disorder)" EXACT [] xref: DOID:14313 xref: MedDRA:10043751 xref: MeSH:D016606 xref: NCIt:C3415 xref: SNOMEDCT:237495005 is_a: EFO:1000627 ! thyroid disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001437 name: Tracheal neoplasm def: "A neoplasm (disease) that involves the trachea." [MONDO:patterns/location] synonym: "neoplasm of the trachea" EXACT [NCIT:C3419] synonym: "neoplasm of trachea" EXACT [MONDO:patterns/neoplasm, NCIT:C3419] synonym: "trachea neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "trachea neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "trachea neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "trachea tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3419] synonym: "trachea tumour" EXACT OMO:0003005 [] synonym: "tracheal neoplasm" EXACT [NCIT:C3419] synonym: "tracheal tumor" EXACT [NCIT:C3419] synonym: "tracheal tumour" EXACT OMO:0003005 [] synonym: "tumor of the trachea" EXACT [NCIT:C3419] synonym: "tumor of trachea" EXACT [MONDO:patterns/neoplasm, NCIT:C3419] synonym: "tumour of the trachea" EXACT OMO:0003005 [] synonym: "tumour of trachea" EXACT OMO:0003005 [] xref: EFO:1001437 {source="MONDO:equivalentTo"} xref: GTR:AN0481062 {source="UMLS:C0040582"} xref: GTR:AN0505660 {source="UMLS:C0040582"} xref: HP:0100551 {xref="UMLS:C0040582", source="UMLS:C0040582"} xref: MESH:D014134 {source="MONDO:equivalentTo", source="UMLS:C0040582"} xref: MONDO:0021210 xref: NCIT:C3419 {source="MONDO:equivalentTo", source="UMLS:C0040582"} xref: UMLS:C0040582 {source="NCIT:C3419", source="MONDO:equivalentTo"} is_a: EFO:0003853 ! respiratory system neoplasm is_a: MONDO:0002567 {source="MONDO:Redundant", source="NCIT:C3419"} ! tracheal disorder property_value: exactMatch http://identifiers.org/mesh/D014134 property_value: exactMatch http://identifiers.org/mesh/D014134 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040582 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040582 property_value: exactMatch NCIT:C3419 property_value: exactMatch NCIT:C3419 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/neoplasm.yaml [Term] id: EFO:1001438 name: Trematode Infections def: "Infections caused by infestation with worms of the class Trematoda." [] xref: DOID:884 xref: ICD9:121 xref: MedDRA:10044560 xref: MedDRA:10044561 xref: MeSH:D014201 is_a: EFO:0001067 ! parasitic infection property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001439 name: Trilogy of Fallot def: "A combination of congenital heart defects consisting of three key features including ATRIAL SEPTAL DEFECTS; PULMONARY STENOSIS; and RIGHT VENTRICULAR HYPERTROPHY." [] xref: MeSH:D014286 is_a: HP:0001626 ! Abnormality of the cardiovascular system property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001440 name: Tuberculosis, Avian def: "A variety of TUBERCULOSIS affecting various birds, including chickens and ducks. It is caused by MYCOBACTERIUM AVIUM and characterized by tubercles consisting principally of epithelioid cells." [] synonym: "avian tuberculosis" EXACT [] xref: DOID:413 xref: MeSH:D014379 is_a: EFO:0005932 ! animal disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001441 name: Tuberculosis, Bovine def: "An infection of cattle caused by MYCOBACTERIUM BOVIS. It is transmissible to man and other animals." [] synonym: "bovine tuberculosis" EXACT [] xref: DOID:411 xref: MeSH:D014380 is_a: EFO:0005932 ! animal disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001442 name: cardiac tuberculosis def: "Pathological conditions of the CARDIOVASCULAR SYSTEM caused by infection of MYCOBACTERIUM TUBERCULOSIS. Tuberculosis involvement may include the HEART; the BLOOD VESSELS; or the PERICARDIUM." [] def: "Pathological conditions of the cardiovascular system caused by infection of mycobacterium tuberculosis. Tuberculosis involvement may include the heart; the blood vessels; or the pericardium." [MESH:D014381] synonym: "cardiac tuberculosis" EXACT [] {comment="preferred label from MONDO"} synonym: "cardiovascular tuberculosis" EXACT [] synonym: "cardiovascular tuberculosis" NARROW [DOID:0060570] synonym: "tuberculosis, cardiovascular" EXACT [] xref: DOID:0060570 {source="MONDO:equivalentTo"} xref: DOID:414 xref: MESH:D014381 {source="MONDO:equivalentTo", source="DOID:0060570"} xref: MeSH:D014381 xref: MONDO:0000813 xref: UMLS:C0041308 {source="MONDO:equivalentTo"} is_a: EFO:0003777 ! heart disease is_a: MONDO:0000368 {source="https://orcid.org/0000-0002-6670-9157"} ! extrapulmonary tuberculosis property_value: exactMatch DOID:0060570 property_value: exactMatch http://identifiers.org/mesh/D014381 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041308 property_value: excluded_subClassOf MONDO:0018076 {source="DOID:0060570", source="EFO:1001442", source="MESH:D014381", source="MONDO:Redundant"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4143 xsd:anyURI [Term] id: EFO:1001443 name: Tuberculosis, Cutaneous def: "A benign neoplasm that involves the placenta." [MONDO:patterns/location] def: "Tuberculosis of the skin. It includes scrofuloderma and tuberculid, but not LUPUS VULGARIS." [] synonym: "benign neoplasm of placenta" EXACT [] {comment="preferred label from MONDO"} synonym: "benign neoplasm of the placenta" EXACT [NCIT:C8545] synonym: "benign placenta neoplasm" EXACT [NCIT:C8545] synonym: "benign placenta tumor" EXACT [NCIT:C8545] synonym: "benign placenta tumour" EXACT OMO:0003005 [] synonym: "benign placental neoplasm" EXACT [NCIT:C8545] synonym: "benign placental tumor" EXACT [NCIT:C8545] synonym: "benign placental tumour" EXACT OMO:0003005 [] synonym: "benign tumor of placenta" EXACT [NCIT:C8545] synonym: "benign tumor of the placenta" EXACT [NCIT:C8545] synonym: "benign tumour of placenta" EXACT OMO:0003005 [] synonym: "benign tumour of the placenta" EXACT OMO:0003005 [] synonym: "cutaneous tuberculosis" EXACT [] synonym: "placenta benign neoplasm" EXACT [MONDO:patterns/location] synonym: "placental neoplasms, benign" EXACT [NCIT:C8545] xref: DOID:398 xref: ICD9:219.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MeSH:D014382 xref: MONDO:0021498 xref: NCIT:C8545 {source="MONDO:equivalentTo"} xref: SCTID:92297008 {source="MONDO:equivalentTo"} xref: UMLS:C0686274 {source="MONDO:equivalentTo", source="NCIT:C8545"} is_a: EFO:0000771 ! bacterial disease is_a: MONDO:0000632 ! uterine benign neoplasm is_a: MONDO:0021218 {source="MONDO:Redundant", source="NCIT:C8545"} ! placenta neoplasm property_value: exactMatch http://identifiers.org/snomedct/92297008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0686274 property_value: exactMatch NCIT:C8545 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001444 name: Tularemia def: "A plague-like disease of rodents, transmissible to man. It is caused by FRANCISELLA TULARENSIS and is characterized by fever, chills, headache, backache, and weakness." [] def: "Tularemia is an infection caused by the bacterium Francisella tularensis. It is more common in rodents and rabbits but has been found in other animals including domestic cats, sheep, birds, and hamsters. Humans can become infected in several different ways: by handling infected animals, through tick or deer fly bites, by drinking contaminated water, or by inhaling contaminated dust or aerosols. Person-to-person transmission has not been reported. The type of tularemia and the particular signs and symptoms vary depending on how the bacteria enter the body. However, fever is seen in most cases. Though tularemia can be life-threatening, most infections can be treated with antibiotics." [https://rarediseases.info.nih.gov/diseases/396/tularemia] subset: gard_rare {source="GARD:0000396"} subset: ordo_disease {source="Orphanet:3392"} synonym: "Deerfly fever" RELATED [GARD:0000396] synonym: "Francisella tularensis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Francisella tularensis disease or disorder" EXACT [] synonym: "Francisella tularensis infection" RELATED [GARD:0000396] synonym: "Francisella tularensis infectious disease" EXACT [] synonym: "lemming fever" RELATED [GARD:0000396] synonym: "Ohara disease" RELATED [GARD:0000396] synonym: "Pahvant Valley plague" RELATED [GARD:0000396] synonym: "rabbit fever" RELATED [GARD:0000396] synonym: "tularemia" EXACT [] {comment="preferred label from MONDO"} synonym: "Yatobyo (Japan)" RELATED [GARD:0000396] xref: DOID:2123 {source="MONDO:equivalentTo"} xref: ICD10CM:A21 {source="MONDO:equivalentTo"} xref: ICD9:021.8 {source="DOID:2123"} xref: ICD9:021.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10045146 {source="Orphanet:3392/e", source="Orphanet:3392"} xref: MedDRA:10045147 xref: MESH:D014406 {source="Orphanet:3392/e", source="DOID:2123", source="MONDO:equivalentTo", source="Orphanet:3392"} xref: MeSH:D014406 xref: MONDO:0018077 xref: NCIT:C85208 {source="MONDO:equivalentTo"} xref: NCIt:C85208 xref: ORDO:Orphanet_3392 xref: Orphanet:3392 {source="MONDO:equivalentTo"} xref: SCTID:19265001 {source="MONDO:equivalentTo"} xref: SNOMEDCT:19265001 xref: UMLS:C0041351 {source="Orphanet:3392/e", source="NCIT:C85208", source="MONDO:equivalentTo", source="Orphanet:3392"} is_a: MONDO:0000314 {source="DOID:2123"} ! primary bacterial infectious disease is_a: MONDO:0100120 {comment="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare property_value: closeMatch http://identifiers.org/meddra/10045146 property_value: exactMatch DOID:2123 property_value: exactMatch http://identifiers.org/mesh/D014406 property_value: exactMatch http://identifiers.org/snomedct/19265001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041351 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A21 property_value: exactMatch NCIT:C85208 property_value: exactMatch Orphanet:3392 property_value: IAO:0000117 "Dani Welter" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/396/tularemia xsd:anyURI {source="GARD:0000396"} [Term] id: EFO:1001445 name: Tungiasis def: "An disease or disorder caused by infection with Tunga penetrans." [MONDO:patterns/specific_infectious_disease_by_agent] def: "An infestation with the flea TUNGA PENETRANS causing inflammation, pruritus, and pain, in both humans and other mammals. There is a high incidence of secondary infections such as BACTEREMIA and TETANUS." [] subset: gard_rare {source="GARD:0000393"} subset: ordo_disease {source="Orphanet:879"} synonym: "chigger flea" RELATED [GARD:0000393] synonym: "S penetrans" RELATED [GARD:0000393] synonym: "Sarcopsylla penetrans" RELATED [GARD:0000393] synonym: "T penetrans" RELATED [GARD:0000393] synonym: "Tunga penetrans" RELATED [GARD:0000393] synonym: "Tunga penetrans caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Tunga penetrans disease or disorder" EXACT [] synonym: "Tunga penetrans infectious disease" EXACT [] synonym: "tungiasis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0050266 {source="MONDO:equivalentTo"} xref: DOID:50266 xref: ICD10:B88.1 xref: ICD9:134.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10080488 xref: MESH:D058285 {source="MONDO:equivalentTo", source="Orphanet:879", source="Orphanet:879/e"} xref: MeSH:D058285 xref: MONDO:0019498 xref: ORDO:Orphanet_879 xref: Orphanet:879 {source="MONDO:equivalentTo"} xref: SCTID:64612002 {source="MONDO:equivalentTo"} xref: SNOMEDCT:64612002 xref: UMLS:C0277356 {source="MONDO:equivalentTo", source="Orphanet:879"} is_a: MONDO:0002875 {source="DOID:0050266", source="MESH:D058285/inferred"} ! parasitic ectoparasitic infectious disease is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577", source="MONDO:0019519"} ! rare property_value: exactMatch DOID:0050266 property_value: exactMatch http://identifiers.org/mesh/D058285 property_value: exactMatch http://identifiers.org/snomedct/64612002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0277356 property_value: exactMatch Orphanet:879 property_value: IAO:0000117 "Dani Welter" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/393/tungiasis xsd:anyURI {source="GARD:0000393"} [Term] id: EFO:1001446 name: Uterine Inversion def: "A complication of OBSTETRIC LABOR in which the corpus of the UTERUS is forced completely or partially through the UTERINE CERVIX. This can occur during the late stages of labor and is associated with IMMEDIATE POSTPARTUM HEMORRHAGE." [] def: "A complication of obstetric labor in which the corpus of the uterus is forced completely or partially through the uterine cervix. This can occur during the late stages of labor and is associated with immediate postpartum hemorrhage." [MESH:D019687] synonym: "uterine inversion" EXACT [] {comment="preferred label from MONDO"} xref: DOID:997 {source="MONDO:equivalentTo"} xref: ICD9:665.2 {source="DOID:997"} xref: MedDRA:10046796 xref: MESH:D019687 {source="DOID:997", source="MONDO:equivalentTo"} xref: MeSH:D019687 xref: MONDO:0004936 xref: SCTID:27215002 {source="DOID:997", source="MONDO:equivalentTo"} xref: SNOMEDCT:27215002 is_a: MONDO:0002654 {source="DOID:997", source="MESH:D019687"} ! uterine disorder property_value: exactMatch DOID:997 property_value: exactMatch http://identifiers.org/mesh/D019687 property_value: exactMatch http://identifiers.org/snomedct/27215002 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001447 name: Vaginal neoplasm def: "A benign or malignant neoplasm affecting the vagina. Representative examples of benign neoplasms include squamous papilloma and melanocytic nevus. Representative examples of malignant neoplasms include carcinoma, melanoma, and sarcoma." [NCIT:C3437] comment: Editor note: we place the oncotree class here for consistency of placing of child classes, although it represents both vagina and vulva synonym: "neoplasm of the vagina" EXACT [NCIT:C3437] synonym: "neoplasm of vagina" EXACT [MONDO:patterns/neoplasm, NCIT:C3437] synonym: "tumor of the vagina" EXACT [NCIT:C3437] synonym: "tumor of vagina" EXACT [MONDO:patterns/neoplasm, NCIT:C3437] synonym: "tumour of the vagina" EXACT OMO:0003005 [] synonym: "tumour of vagina" EXACT OMO:0003005 [] synonym: "vagina neoplasm" EXACT [NCIT:C3437] synonym: "vagina neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "vagina tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3437] synonym: "vagina tumour" EXACT OMO:0003005 [] synonym: "vaginal neoplasm" EXACT [NCIT:C3437] synonym: "vaginal neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "vaginal neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "vaginal tumor" EXACT [NCIT:C3437] synonym: "vaginal tumour" EXACT OMO:0003005 [] xref: EFO:1001447 {source="MONDO:equivalentTo"} xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:239.5 {source="MONDO:relatedTo", source="i2s"} xref: MONDO:0021050 xref: NCIT:C3437 {source="MONDO:equivalentTo"} xref: ONCOTREE:VULVA {source="MONDO:relatedTo"} xref: SCTID:126921000 {source="MONDO:equivalentTo"} is_a: MONDO:0001433 {source="MONDO:Redundant", source="NCIT:C3437"} ! vaginal disorder is_a: MONDO:0021148 {source="MONDO:Redundant", source="NCIT:C3437"} ! female reproductive system neoplasm property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0042258 property_value: exactMatch http://identifiers.org/snomedct/126921000 property_value: exactMatch http://identifiers.org/snomedct/126921000 property_value: exactMatch NCIT:C3437 property_value: exactMatch NCIT:C3437 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/neoplasm.yaml [Term] id: EFO:1001448 name: Ventricular Outflow Obstruction def: "Occlusion of the outflow tract in either the LEFT VENTRICLE or the RIGHT VENTRICLE of the heart. This may result from CONGENITAL HEART DEFECTS, predisposing heart diseases, complications of surgery, or HEART NEOPLASMS." [] xref: MeSH:D014694 is_a: EFO:0003777 ! heart disease property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001449 name: Vertebrobasilar insufficiency def: "Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the BRAIN STEM; CEREBELLUM; OCCIPITAL LOBE; medial TEMPORAL LOBE; and THALAMUS. Characteristic clinical features include SYNCOPE; lightheadedness; visual disturbances; and VERTIGO. BRAIN STEM INFARCTIONS or other BRAIN INFARCTION may be associated." [] def: "Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the brain stem; cerebellum; occipital lobe; medial temporal lobe; and thalamus. Characteristic clinical features include syncope; lightheadedness; visual disturbances; and vertigo. brain stem infarctions or other brain infarction may be associated." [MESH:D014715] synonym: "vertebro-basilar insufficiency" EXACT [DOID:13003] synonym: "vertebrobasilar arterial insufficiency" EXACT [DOID:13003] synonym: "vertebrobasilar artery syndrome" EXACT [DOID:13003, ICD9CM:435.3] synonym: "vertebrobasilar insufficiency" EXACT [DOID:13003] synonym: "vertebrobasilar insufficiency" EXACT [] {comment="preferred label from MONDO"} xref: DOID:13003 {source="MONDO:equivalentTo"} xref: DOID:223 xref: ICD9:435.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13003"} xref: MedDRA:10047334 xref: MESH:D014715 {source="MONDO:equivalentTo", source="DOID:13003"} xref: MeSH:D014715 xref: MONDO:0001613 xref: SCTID:195199008 {source="MONDO:equivalentTo", source="DOID:13003"} xref: SCTID:64009001 {source="MONDO:relatedTo", source="DOID:13003"} xref: UMLS:C0042568 {source="MONDO:equivalentTo", source="DOID:13003"} is_a: EFO:0004277 ! brain infarction is_a: MONDO:0020674 ! vascular insufficiency disorder relationship: disease_has_feature MONDO:0005299 {source="MESH:D014715"} ! brain ischemia property_value: exactMatch DOID:13003 property_value: exactMatch http://identifiers.org/mesh/D014715 property_value: exactMatch http://identifiers.org/snomedct/195199008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042568 property_value: excluded_subClassOf MONDO:0005264 {source="DOID:13003"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001450 name: Wolff-Parkinson-White Syndrome def: "A cardiac conduction disorder characterized by an electrocardiographic finding of ventricular pre-excitation, which is a short PR interval and a long QRS interval with a delta wave. Most individuals are asymptomatic; however they can experience periods of palpitations, shortness of breath or syncope during tachycardic episodes." [NCIT:P378] def: "A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase." [] synonym: "accessory atrioventricular pathways" RELATED [OMIM:194200] synonym: "anomalous A-V excitation" EXACT [DOID:384] synonym: "anomalous atrioventricular excitation" EXACT [DOID:384] synonym: "preexcitation syndrome" RELATED [OMIM:194200] synonym: "ventricular familial preexcitation syndrome" EXACT [Orphanet:907] synonym: "Wolff-Parkinson-White pattern" EXACT [DOID:384] synonym: "Wolff-Parkinson-White pattern (finding)" EXACT [DOID:384] synonym: "Wolff-Parkinson-White syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Wolff-Parkinson-White syndrome" EXACT [MONDO:ambiguous, OMIM:194200] synonym: "Wolff-Parkinson-white syndrome (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "WPW" EXACT ABBREVIATION [NCIT:C35132] synonym: "Wpw syndrome" RELATED [OMIM:194200] xref: DOID:384 {source="MONDO:equivalentTo"} xref: HP:0001716 {source="MONDO:otherHierarchy"} xref: ICD9:426.7 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:384"} xref: MedDRA:10048015 xref: MESH:D014927 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo", source="DOID:384"} xref: MeSH:D014927 xref: MONDO:0008685 xref: NCIT:C35132 {source="MONDO:equivalentTo", source="DOID:384"} xref: NCIt:C35132 xref: OMIM:194200 {source="MONDO:equivalentTo", source="DOID:384"} xref: Orphanet:907 {source="MONDO:equivalentObsolete", source="OMIM:194200"} xref: SCTID:17869006 {source="MONDO:equivalentTo", source="DOID:384"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: MONDO:0000992 {source="DOID:384"} ! heart conduction disease property_value: exactMatch DOID:384 property_value: exactMatch http://identifiers.org/mesh/D014927 property_value: exactMatch http://identifiers.org/snomedct/17869006 property_value: exactMatch https://omim.org/entry/194200 property_value: exactMatch NCIT:C35132 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000589 "Wolff-Parkinson-white syndrome (disease)" xsd:string [Term] id: EFO:1001451 name: X-Linked Combined Immunodeficiency Diseases def: "Forms of combined immunodeficiency caused by mutations in the gene for INTERLEUKIN RECEPTOR COMMON GAMMA SUBUNIT. Both severe and non-severe subtypes of the disease have been identified." [] synonym: "CIDX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:312863] synonym: "combined immunodeficiency, X-linked" EXACT [] {comment="preferred label from MONDO"} synonym: "combined immunodeficiency, X-linked" EXACT [MONDO:Lexical, OMIM:312863] synonym: "combined immunodeficiency, X-linked, moderate, X-linked recessive" EXACT [OMIM:312863, OMIM:genemap2] synonym: "immunodeficiency 6" RELATED [OMIM:312863] synonym: "X-Linked Combined Immunodeficiency Disease" EXACT [] synonym: "x-linked severe combined immunodeficiency" EXACT [] synonym: "Xcid" RELATED [OMIM:312863] xref: DOID:60013 xref: MedDRA:10083916 xref: MeSH:D053632 xref: MONDO:0010730 xref: NCIt:C4682 xref: OMIM:312863 {source="MONDO:equivalentTo"} xref: SNOMEDCT:203592006 is_a: MONDO:0044200 {source="PMID:31953710"} ! T-B+ severe combined immunodeficiency is_a: Orphanet:183770 ! Rare genetic immune disease property_value: exactMatch https://omim.org/entry/312863 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: EFO:1001452 name: Yellow Nail Syndrome def: "A rare condition characterized by the presence of yellow nails, LYMPHEDEMA, and/or PLEURAL EFFUSION with respiratory tract involvement. Abnormal lymphatic network may play a role in its etiology. Occasionally inherited, yellow nail syndrome mostly is sporadic without apparent family history." [] def: "A very rare syndromic disorder characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema." [https://orcid.org/0000-0001-5208-3432, Orphanet:662] subset: gard_rare {source="GARD:0000184"} subset: ordo_disease {source="Orphanet:662"} synonym: "lymphedema and Yellow nails" RELATED [OMIM:153300] synonym: "lymphedema with yellow nails" EXACT [Orphanet:662] synonym: "yellow nail syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "yellow nail syndrome" EXACT [OMIM:153300] synonym: "YNS" EXACT ABBREVIATION [Orphanet:662] synonym: "Yns" RELATED [OMIM:153300] xref: DOID:0050468 {source="MONDO:equivalentTo"} xref: ICD10:L60.5 xref: ICD10CM:L60.5 {source="MONDO:equivalentTo", source="Orphanet:662/ntbt", source="DOID:0050468", source="Orphanet:662"} xref: ICD9:703.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:757.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10048244 {source="Orphanet:662/e", source="Orphanet:662"} xref: MESH:D056684 {source="MONDO:equivalentTo", source="DOID:0050468"} xref: MeSH:D056684 xref: MONDO:0007921 xref: NCIT:C85238 {source="MONDO:equivalentTo", source="DOID:0050468"} xref: NCIt:C85238 xref: OMIM:153300 {source="Orphanet:662/e", source="MONDO:equivalentTo", source="DOID:0050468", source="Orphanet:662"} xref: ORDO:Orphanet_662 xref: Orphanet:662 {source="MONDO:equivalentTo", source="OMIM:153300"} xref: SCTID:400211001 {source="MONDO:equivalentTo", source="DOID:0050468"} xref: UMLS:C0221348 {source="NCIT:C85238", source="MONDO:equivalentTo", source="DOID:0050468", source="MONDO:ncbi_mim2gene_medline", source="OMIM:153300", source="Orphanet:662"} is_a: EFO:0000701 ! skin disease is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema is_a: MONDO:0019520 {source="MONDO:Redundant", source="Orphanet:662"} ! syndromic lymphedema property_value: closeMatch http://identifiers.org/meddra/10048244 property_value: exactMatch DOID:0050468 property_value: exactMatch http://identifiers.org/mesh/D056684 property_value: exactMatch http://identifiers.org/snomedct/400211001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221348 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L60.5 property_value: exactMatch https://omim.org/entry/153300 property_value: exactMatch NCIT:C85238 property_value: exactMatch Orphanet:662 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/184/yellow-nail-syndrome xsd:anyURI {source="GARD:0000184"} [Term] id: EFO:1001453 name: Zoster Sine Herpete def: "HERPES ZOSTER but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult." [] xref: MeSH:D031368 xref: SNOMEDCT:449783002 is_a: EFO:0006510 ! Herpes Zoster property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001454 name: amnesia def: "Pathologic partial or complete loss of the ability to recall past experiences ( AMNESIA, RETROGRADE) or to form new memories ( AMNESIA, ANTEROGRADE). This condition may be of organic or psychologic origin. Organic forms of amnesia are usually associated with dysfunction of the DIENCEPHALON or HIPPOCAMPUS. (From Adams et al., Principles of Neurology, 6th ed, pp426-7)" [] synonym: "Amnesia-Memory Loss" EXACT [] synonym: "Amnestic State" EXACT [] synonym: "Amnestic syndrome" EXACT [] xref: DOID:4544 xref: MedDRA:10001949 xref: MeSH:D000647 is_a: MONDO:0002039 ! cognitive disorder property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001455 name: auditory system disease def: "A disease involving the auditory system." [https://orcid.org/0000-0002-6601-2165] def: "Pathological processes of the ear, the hearing, and the equilibrium system of the body." [] subset: rare_grouping synonym: "auditory disease" EXACT [DOID:2742] synonym: "auditory system disease" EXACT [MONDO:patterns/location] synonym: "auditory system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "auditory system disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "Destruction - ear drum" EXACT [] synonym: "disease of auditory system" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of auditory system" EXACT [] synonym: "disorder of auditory system" EXACT [MONDO:patterns/location_top] synonym: "disorder of ear" EXACT [] synonym: "ear and mastoid disease" EXACT [DOID:2742] synonym: "ear disease" EXACT [] synonym: "ear disorder" EXACT [] synonym: "ear disorder NOS" EXACT [] synonym: "otologic disease" EXACT [] synonym: "otological disease" EXACT [] synonym: "Unspecified disorder of ear" EXACT [] xref: DOID:2742 {source="MONDO:equivalentTo"} xref: ICD10:H74 xref: ICD10:H93 xref: ICD10CM:H60-H95 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:388.9 {source="MONDO:relatedTo", source="DOID:2742"} xref: MeSH:D004427 xref: MONDO:0002409 xref: NCIT:C26757 {source="MONDO:relatedTo", source="DOID:2742"} xref: SCTID:25906001 {source="MONDO:relatedTo", source="DOID:2742"} xref: SCTID:362966006 {source="MONDO:equivalentTo"} xref: UMLS:C0013447 {source="MONDO:relatedTo", source="DOID:2742"} is_a: EFO:0001058 ! sensory system disease property_value: exactMatch DOID:2742 property_value: exactMatch http://identifiers.org/snomedct/362966006 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H60-H95 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001456 name: central nervous system infection def: "An infectious process that affects the brain and/or spinal cord. Representative examples include encephalitis, poliomyelitis, arachnoiditis, and meningitis." [NCIT:C27582] def: "Pathogenic infections of the brain, spinal cord, and meninges." [] synonym: "central nervous system infection" RELATED [MESH:D002494] synonym: "Central Nervous System Infections" EXACT [] synonym: "central nervous system infectious disease" EXACT [MONDO:patterns/location, NCIT:C27582] synonym: "central nervous system infectious disorder" EXACT [NCIT:C27582] synonym: "central nervous system infectious disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "infections, central nervous system" RELATED [MESH:D002494] synonym: "infectious disease of central nervous system" EXACT [MONDO:0021684, NCIT:C27582] xref: ICD10:A81 xref: ICD10:A89 xref: ICD9:349.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10061036 xref: MESH:D002494 {source="MONDO:equivalentTo"} xref: MeSH:D002494 xref: MONDO:0024619 xref: NCIT:C27582 {source="MONDO:equivalentTo"} xref: SCTID:128117002 {source="MONDO:equivalentTo"} xref: UMLS:C0007684 {source="NCIT:C27582", source="MONDO:equivalentTo"} is_a: EFO:0009386 {source="MESH:D002494", source="MONDO:Redundant", source="NCIT:C27582/inferred"} ! central nervous system disease is_a: MONDO:0020010 {source="MONDO:Redundant", source="NCIT:C27582"} ! infectious disorder of the nervous system property_value: exactMatch http://identifiers.org/mesh/D002494 property_value: exactMatch http://identifiers.org/snomedct/128117002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007684 property_value: exactMatch NCIT:C27582 property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001457 name: obsolete_cognitive disorder def: "Disturbances in mental processes related to learning, thinking, reasoning, and judgment." [] synonym: "cognitice dysfunction" EXACT [] synonym: "Cognition Disorders" EXACT [] synonym: "Cognitive Defects" EXACT [] synonym: "Cognitive Deficits" EXACT [] xref: MedDRA:10057668 xref: Wikipedia:Cognitive_disorder property_value: gwas:trait "true" xsd:boolean property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.47.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replaced by Mondo term.\nSee: https://github.com/EBISPOT/efo/issues/1750\nUse: http://purl.obolibrary.org/obo/MONDO_0002039" xsd:string property_value: IAO:0000117 "Gautier Koscielny" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/MONDO_0002039 [Term] id: EFO:1001458 name: diabetic cardiomyopathy def: "Diabetic cardiomyopathy is a disorder of the heart muscle in people with diabetes. It can lead to inability of the heart to circulate blood through the body effectively, a state known as heart failure, with accumulation of fluid in the lungs (pulmonary edema) or legs (peripheral edema). Most heart failure in people with diabetes results from coronary artery disease, and diabetic cardiomyopathy is only said to exist if there is no coronary artery disease to explain the heart muscle disorder." [] xref: MedDRA:10012647 xref: MeSH:D058065 xref: Wikipedia:Diabetic_cardiomyopathy is_a: EFO:0000318 ! cardiomyopathy property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001459 name: diabetic foot def: "A diabetic foot is a foot that exhibits any pathology that results directly from diabetes mellitus or any long-term (or \"chronic\") complication of diabetes mellitus. Presence of several characteristic diabetic foot pathologies such as infection, diabetic foot ulcer and neuropathic osteoarthropathy is called diabetic foot syndrome." [] synonym: "Diabetic Feet" EXACT [] synonym: "Diabetic Foot Ulcer" EXACT [] xref: MedDRA:10060734 xref: MeSH:D017719 xref: Wikipedia:Diabetic_foot is_a: EFO:0000701 ! skin disease is_a: EFO:1000896 ! diabetic angiopathy property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001460 name: diverticulitis def: "An infection that develops in the diverticula of the intestinal tract. Signs and symptoms include abdominal pain, fever, and leukocytosis." [NCIT:C26752] def: "An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall." [] synonym: "digestive tract diverticulum inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "diverticulitis" EXACT [] {comment="preferred label from MONDO"} synonym: "inflammation of digestive tract diverticulum" EXACT [] xref: DOID:7475 {source="MONDO:equivalentTo"} xref: ICD10:K57 xref: MedDRA:10013538 xref: MESH:D004238 {source="MONDO:equivalentTo", source="DOID:7475"} xref: MeSH:D004238 xref: MONDO:0004235 xref: NCIT:C26752 {source="MONDO:equivalentTo", source="NCIT:C26752", source="DOID:7475"} xref: SCTID:307496006 {source="MONDO:equivalentTo", source="DOID:7475"} xref: UMLS:C0012813 {source="MONDO:equivalentTo", source="NCIT:C26752", source="DOID:7475"} xref: Wikipedia:Diverticulitis is_a: EFO:0009431 {source="DOID:7475", source="NCIT:C26752/inferred"} ! intestinal disease is_a: EFO:0009903 {source="MONDO:Redundant"} ! inflammatory disease is_a: EFO:0009959 ! diverticular disease is_a: EFO:1001463 ! gastroenteritis relationship: disease_has_feature EFO:1001869 {source="MONDO:Wikidata"} ! dysentery relationship: disease_has_feature MONDO:0002203 {source="MONDO:Wikidata"} ! constipation disorder property_value: exactMatch DOID:7475 property_value: exactMatch http://identifiers.org/mesh/D004238 property_value: exactMatch http://identifiers.org/snomedct/307496006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0012813 property_value: exactMatch NCIT:C26752 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001461 name: endothelial dysfunction def: "In vascular diseases, endothelial dysfunction is a systemic pathological state of the endothelium (the inner lining of blood vessels) and can be broadly defined as an imbalance between vasodilating and vasoconstricting substances produced by (or acting on) the endothelium. Normal functions of endothelial cells include mediation of coagulation, platelet adhesion, immune function and control of volume and electrolyte content of the intravascular and extravascular spaces." [] xref: MedDRA:10048554 xref: Wikipedia:Endothelial_dysfunction is_a: EFO:0004264 ! vascular disease relationship: EFO:0000784 CL:0000115 ! has_disease_location endothelial cell property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001462 name: erysipelas def: "an acute, sometimes recurrent disease caused by a bacterial infection, characterized by large raised red patches on the skin." [] def: "An infection of the upper layers of the skin caused by species of streptococcus. Erysipelas results in a fiery red rash with raised edges that can easily be distinguished from the skin around it. The affected skin may be warm to the touch." [https://rarediseases.org/rare-diseases/erysipelas/] comment: The most common cause is group A streptococcal bacteria, especially Streptococcus pyogenes subset: gard_rare {source="GARD:0006370"} synonym: "erysipelas" EXACT [] {comment="preferred label from MONDO"} xref: DOID:11330 {source="MONDO:equivalentTo"} xref: HP:0001055 {source="MONDO:otherHierarchy"} xref: ICD10CM:A46 {source="MONDO:equivalentTo", source="DOID:11330"} xref: ICD9:035 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11330"} xref: MedDRA:10015145 xref: MESH:D004886 {source="MONDO:equivalentTo", source="DOID:11330"} xref: MONDO:0001266 xref: SCTID:44653001 {source="MONDO:equivalentTo", source="DOID:11330"} xref: UMLS:C0014733 {source="MONDO:equivalentTo", source="DOID:11330"} is_a: EFO:1001476 ! streptococcal infection is_a: MONDO:0021201 {source="https://rarediseases.org/rare-diseases/erysipelas/"} ! skin infection is_a: MONDO:0024295 ! skin disease caused by bacterial infection property_value: exactMatch DOID:11330 property_value: exactMatch http://identifiers.org/mesh/D004886 property_value: exactMatch http://identifiers.org/snomedct/44653001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014733 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A46 property_value: excluded_subClassOf MONDO:0002406 {source="DOID:11330"} property_value: IAO:0000117 "Gautier Koscielny" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6370/erysipelas xsd:anyURI {source="GARD:0006370"} [Term] id: EFO:1001463 name: gastroenteritis def: "An inflammatory disorder that affects the upper and lower gastrointestinal tract. Most commonly, this is attributed to viruses; however bacteria, parasites or adverse reactions can also be the culprit. Symptoms include acute diarrhea and vomiting." [NCIT:C34632] def: "INFLAMMATION of any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM. Causes of gastroenteritis are many including genetic, infection, HYPERSENSITIVITY, drug effects, and CANCER." [] synonym: "cholera morbus" EXACT [DOID:2326] synonym: "gastroenteritis" EXACT [] {comment="preferred label from MONDO"} synonym: "infectious colitis, enteritis and gastroenteritis" NARROW [DOID:2326] synonym: "inflammation of intestine" EXACT [] synonym: "intestine inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:2326 {source="MONDO:equivalentTo"} xref: ICD10:A09 xref: ICD10:K52 xref: ICD9:558.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10017888 xref: MESH:D005759 {source="MONDO:equivalentTo", source="DOID:2326"} xref: MeSH:D005759 xref: MONDO:0002269 xref: NCIT:C34632 {source="MONDO:equivalentTo", source="DOID:2326"} xref: SCTID:25374005 {source="MONDO:equivalentTo", source="DOID:2326"} xref: UMLS:C0017160 {source="MONDO:equivalentTo", source="DOID:2326", source="NCIT:C34632"} is_a: EFO:0009431 {source="MONDO:Redundant"} ! intestinal disease is_a: EFO:0009903 {source="MONDO:Redundant", source="NCIT:C34632/inferred"} ! inflammatory disease relationship: disease_has_feature EFO:1001869 {source="MONDO:Wikidata"} ! dysentery property_value: exactMatch DOID:2326 property_value: exactMatch http://identifiers.org/mesh/D005759 property_value: exactMatch http://identifiers.org/snomedct/25374005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017160 property_value: exactMatch NCIT:C34632 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001464 name: glial brain cell is_a: EFO:0000324 ! cell type [Term] id: EFO:1001465 name: gliosarcoma def: "A rare histological variant of glioblastoma (WHO grade IV) characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation (WHO)." [NCIT:C3796] subset: gard_rare {source="GARD:0005653"} subset: ordo_histopathological_subtype {source="Orphanet:251576"} synonym: "glioblastoma with a sarcomatous component" EXACT [NCIT:C3796] synonym: "glioblastoma with sarcomatous component" EXACT [DOID:3071] synonym: "gliosarcoma" EXACT [NCIT:C3796] synonym: "gliosarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "gliosarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "sarcomatous glioblastoma" RELATED [GARD:0005653] xref: DOID:3071 {source="MONDO:equivalentTo"} xref: EFO:1001465 {source="MONDO:equivalentTo"} xref: GARD:0005653 {source="MONDO:equivalentTo"} xref: ICD10:G71.9 {source="ORDO:251576/ntbt", source="Orphanet:251576"} xref: ICDO:9442/3 {source="NCIT:C3796"} xref: MedDRA:10018340 {source="Orphanet:251576", source="Orphanet:251576/e"} xref: MedDRA:10018340 {source="ORDO:251576/e", source="Orphanet:251576"} xref: MESH:D018316 {source="MONDO:equivalentTo", source="DOID:3071"} xref: MONDO:0016681 xref: NCIT:C3796 {source="MONDO:equivalentTo", source="DOID:3071"} xref: ONCOTREE:GSARC {source="MONDO:equivalentTo"} xref: Orphanet:251576 {source="MONDO:equivalentTo"} xref: UMLS:C0206726 {source="MONDO:equivalentTo", source="NCIT:C3796", source="Orphanet:251576", source="DOID:3071", source="Orphanet:251576/e"} xref: UMLS:C0206726 {source="MONDO:equivalentTo", source="ORDO:251576/e", source="NCIT:C3796", source="Orphanet:251576", source="DOID:3071"} is_a: EFO:0006545 ! brain glioblastoma relationship: EFO:0000784 EFO:1001464 ! has_disease_location glial brain cell property_value: closeMatch http://identifiers.org/meddra/10018340 property_value: closeMatch http://identifiers.org/snomedct/189909006 property_value: closeMatch http://identifiers.org/snomedct/189918008 property_value: closeMatch http://identifiers.org/snomedct/35262004 property_value: exactMatch DOID:3071 property_value: exactMatch DOID:3071 property_value: exactMatch http://identifiers.org/meddra/10018340 property_value: exactMatch http://identifiers.org/mesh/D018316 property_value: exactMatch http://identifiers.org/mesh/D018316 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206726 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206726 property_value: exactMatch NCIT:C3796 property_value: exactMatch NCIT:C3796 property_value: exactMatch Orphanet:251576 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5653/gliosarcoma xsd:anyURI {source="GARD:0005653"} [Term] id: EFO:1001466 name: Graves ophthalmopathy def: "An autoimmune disorder of the EYE, occurring in patients with Graves disease. Subtypes include congestive (inflammation of the orbital connective tissue), myopathic (swelling and dysfunction of the extraocular muscles), and mixed congestive-myopathic ophthalmopathy." [] synonym: "Congestive Ophthalmopathy" EXACT [] synonym: "Dysthyroid Ophthalmopathy" EXACT [] synonym: "dysthyroid/thyroid-associated orbitopathy (TAO)" EXACT [] synonym: "Edematous Ophthalmopathy" EXACT [] synonym: "Graves' ophthalmopathy" EXACT [] synonym: "Graves' orbitopathy" EXACT [] synonym: "Myopathic Ophthalmopathy" EXACT [] synonym: "thyroid eye disease (TED)" EXACT [] synonym: "Thyroid-Associated Ophthalmopathies" EXACT [] synonym: "Thyroid-Associated Ophthalmopathy" EXACT [] xref: MeSH:D049970 is_a: EFO:0003966 ! eye disease is_a: EFO:0004237 ! Graves disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001467 name: Hypereosinophilic syndrome def: "Hypereosinophilic syndrome (HES) constitutes a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia and/or tissue eosinophilia associated with a wide range of clinical manifestations reflecting eosinophil-induced tissue/organ damage." [Orphanet:168956] def: "The hypereosinophilic syndrome (HES) is a disease characterized by a persistently elevated eosinophil count (≥ 1500 eosinophils/mm³) in the blood for at least six months without any recognizable cause, with involvement of either the heart, nervous system, or bone marrow. HES is a diagnosis of exclusion, after clonal eosinophilia (such as leukemia) and reactive eosinophilia (in response to infection, autoimmune disease, atopy, hypoadrenalism, tropical eosinophilia, or cancer) have been ruled out." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:168956"} synonym: "eosinophilia" RELATED [DOID:999] synonym: "eosinophilic leukocytosis" EXACT [DOID:999] synonym: "HES" EXACT ABBREVIATION [Orphanet:168956] synonym: "hypereosinophilic disease" EXACT [] synonym: "hypereosinophilic disorder" EXACT [] synonym: "hypereosinophilic syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "hypereosinophilic syndrome" EXACT [MONDO:0004945, NCIT:C27038] synonym: "Idiopathic Hypereosinophilic Syndrome" EXACT [] synonym: "Loeffler Endocarditis" EXACT [] synonym: "Loeffler's Endocarditis" EXACT [] xref: DOID:999 {source="MONDO:equivalentTo"} xref: ICD9:288.3 {source="DOID:999"} xref: ICDO:9964/3 {source="NCIT:C27038"} xref: MedDRA:10048643 {source="Orphanet:168956", source="Orphanet:168956/e"} xref: MESH:D017681 {source="DOID:999", source="MONDO:equivalentTo", source="Orphanet:168956", source="Orphanet:168956/e"} xref: MeSH:D017681 xref: MONDO:0015691 xref: NCIT:C27038 {source="MONDO:equivalentTo"} xref: ORDO:Orphanet_168956 xref: Orphanet:168956 {source="MONDO:equivalentTo"} xref: SCTID:419455006 {source="MONDO:equivalentTo"} xref: UMLS:C1540912 {source="MONDO:equivalentTo", source="NCIT:C27038", source="Orphanet:168956", source="Orphanet:168956/e"} xref: Wikipedia:Hypereosinophilic_syndrome is_a: EFO:1001473 {source="Orphanet:168956"} ! Non-familial restrictive cardiomyopathy is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C27038"} ! syndromic disease is_a: MONDO:0016340 ! familial restrictive cardiomyopathy is_a: MONDO:0044972 ! eosinophil disorder is_a: Orphanet:158300 ! Rare genetic hematologic disease relationship: disease_has_feature EFO:0002428 {source="Orphanet:168956"} ! chronic myeloproliferative disorder property_value: closeMatch http://identifiers.org/meddra/10048643 property_value: exactMatch DOID:999 property_value: exactMatch http://identifiers.org/mesh/D017681 property_value: exactMatch http://identifiers.org/snomedct/419455006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1540912 property_value: exactMatch NCIT:C27038 property_value: exactMatch Orphanet:168956 property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001468 name: mantle cell is_a: EFO:0000324 ! cell type [Term] id: EFO:1001469 name: Mantle cell lymphoma def: "Mantle cell lymphoma is a rare form of malignant non-Hodgkin lymphoma affecting B lymphocytes in the lymph nodes in a region called the ``mantle zone''." [Orphanet:52416] subset: ordo_disease {source="Orphanet:52416"} synonym: "classical mantle cell lymphoma" EXACT [NCIT:C4337] synonym: "LCM" EXACT ABBREVIATION [Orphanet:52416] synonym: "lymphoma, mantle cell" RELATED [GARD:0006969] synonym: "mantle cell lymphoma" EXACT [] {comment="preferred label from MONDO"} synonym: "mantle cell lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "mantle cell lymphoma" EXACT [NCIT:C4337] synonym: "mantle zone lymphoma" EXACT [NCIT:C4337, Orphanet:52416] synonym: "MCL" EXACT ABBREVIATION [NCIT:C4337, Orphanet:52416] xref: COHD:40481901 {source="MONDO:equivalentTo"} xref: DOID:0050746 {source="MONDO:equivalentTo"} xref: EFO:1001469 {source="MONDO:equivalentTo"} xref: GARD:0006969 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10:C83.1 {source="ORDO:52416/e", source="Orphanet:52416"} xref: ICD9:200.40 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:200.40 {source="MONDO:equivalentTo", source="i2s"} xref: ICDO:9673/3 {source="NCIT:C4337"} xref: MedDRA:10061275 {source="ORDO:52416/e", source="Orphanet:52416"} xref: MedDRA:10061275 {source="Orphanet:52416", source="Orphanet:52416/e"} xref: MESH:D020522 {source="MONDO:equivalentTo", source="DOID:0050746", source="Orphanet:52416", source="Orphanet:52416/e"} xref: MESH:D020522 {source="ORDO:52416/e", source="MONDO:equivalentTo", source="DOID:0050746", source="Orphanet:52416"} xref: MONDO:0018876 xref: NCIT:C4337 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C4337 {source="MONDO:equivalentTo", source="exact-label-match"} xref: ONCOTREE:MCL {source="MONDO:equivalentTo"} xref: Orphanet:52416 {source="MONDO:equivalentTo"} xref: SCTID:443487006 {source="MONDO:equivalentTo"} is_a: MONDO:0017595 {source="Orphanet:52416"} ! aggressive B-cell non-Hodgkin lymphoma relationship: EFO:0000784 EFO:1001468 ! has_disease_location mantle cell property_value: closeMatch http://identifiers.org/meddra/10061275 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0334634 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0555202 property_value: exactMatch DOID:0050746 property_value: exactMatch DOID:0050746 property_value: exactMatch http://identifiers.org/meddra/10061275 property_value: exactMatch http://identifiers.org/mesh/D020522 property_value: exactMatch http://identifiers.org/mesh/D020522 property_value: exactMatch http://identifiers.org/snomedct/443487006 property_value: exactMatch http://identifiers.org/snomedct/443487006 property_value: exactMatch NCIT:C4337 property_value: exactMatch NCIT:C4337 property_value: exactMatch Orphanet:52416 [Term] id: EFO:1001470 name: merkel cell is_a: EFO:0000324 ! cell type [Term] id: EFO:1001471 name: Merkel cell skin cancer def: "A carcinoma arising from MERKEL CELLS located in the basal layer of the epidermis and occurring most commonly as a primary neuroendocrine carcinoma of the skin. Merkel cells are tactile cells of neuroectodermal origin and histologically show neurosecretory granules. The skin of the head and neck are a common site of Merkel cell carcinoma, occurring generally in elderly patients. (Holland et al., Cancer Medicine, 3d ed, p1245)" [] synonym: "MCC" EXACT [] synonym: "Merkel Cell Cancer" EXACT [] synonym: "Merkel Cell Carcinoma" EXACT [] synonym: "Merkel Cell Tumor" EXACT [] synonym: "Merkle Tumors" EXACT [] xref: MeSH:D015266 xref: NCIt:C9231 is_a: EFO:0004198 ! skin neoplasm relationship: EFO:0000784 EFO:1001470 ! has_disease_location merkel cell property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001472 name: Myelitis def: "An inflammatory process affecting the spinal cord. Causes include viral infections, autoimmune disorders, vascular disorders, and toxic agents. Symptoms include weakness, paresthesia, sensory loss, pain, and incontinence." [NCIT:P378] def: "Inflammation of the spinal cord." [] subset: gard_rare {source="GARD:0007130"} synonym: "Infectious Myelitis" EXACT [] synonym: "inflammation of spinal cord" EXACT [] synonym: "myelitis" EXACT [] {comment="preferred label from MONDO"} synonym: "Myelopathy, Inflammatory" EXACT [] synonym: "Spinal Cord Inflammation" EXACT [] synonym: "spinal cord inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "Subacute Necrotising Myelitis" EXACT [] xref: DOID:322 {source="MONDO:equivalentTo"} xref: ICD9:323.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10028524 xref: MESH:D009187 {source="MONDO:equivalentTo", source="DOID:322"} xref: MONDO:0002565 xref: NCIT:C26832 {source="MONDO:equivalentTo", source="DOID:322"} xref: SCTID:41370002 {source="MONDO:equivalentTo", source="DOID:322"} xref: UMLS:C0026975 {source="MONDO:equivalentTo", source="NCIT:C26832", source="DOID:322"} is_a: EFO:0001423 ! encephalomyelitis is_a: EFO:0009488 {source="DOID:322", source="MESH:D009187", source="MONDO:Redundant"} ! spinal cord disease is_a: EFO:1001456 ! central nervous system infection property_value: exactMatch DOID:322 property_value: exactMatch http://identifiers.org/mesh/D009187 property_value: exactMatch http://identifiers.org/snomedct/41370002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026975 property_value: exactMatch NCIT:C26832 property_value: IAO:0000117 "Gautier Koscielny" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7130/myelitis xsd:anyURI {source="GARD:0007130"} [Term] id: EFO:1001473 name: Non-familial restrictive cardiomyopathy def: "a restrictive cardiomyopathy not inherited through genetics" [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:217720"} synonym: "non-familial restrictive cardiomyopathy" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0016345 xref: ORDO:Orphanet_217720 xref: Orphanet:217720 {source="MONDO:equivalentTo"} xref: UMLS:CN226908 {source="MONDO:equivalentTo"} is_a: EFO:0002630 {source="Orphanet:217720"} ! restrictive cardiomyopathy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226908 property_value: exactMatch Orphanet:217720 property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001474 name: pneumococcal pneumonia def: "A febrile disease caused by STREPTOCOCCUS PNEUMONIAE." [] synonym: "Pneumonia, Pneumococcal" EXACT [] xref: MedDRA:10035647 xref: MeSH:D011018 is_a: EFO:0000772 ! pneumococcal infection property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001475 name: schistosomiasis def: "An infectious disease caused by parasitic trematodes of the genus Schistosoma that colonize human blood vessels and release eggs that can cause granulomatous reactions leading to acute (swimmer's itch or acute schistosomiasis syndrome) or chronic disease. Depending on where the eggs lodge, manifestations of chronic schistosomiasis can include diarrhea, abdominal pain, loss of appetite, anemia (intestines), hepatosplenism, periportal fibrosis with portal hypertension (liver), urogenital inflammation and scarring, hematuria and dysuria (genitourinary system). Other patients may be asymptomatic." [Orphanet:1247] def: "Infection with flukes (trematodes) of the genus SCHISTOSOMA. Three species produce the most frequent clinical diseases: SCHISTOSOMA HAEMATOBIUM (endemic in Africa and the Middle East),SCHISTOSOMA MANSONI (in Egypt, northern and southern Africa, some West Indies islands, northern 2/3 of South America), and SCHISTOSOMA JAPONICUM (in Japan, China, the Philippines, Celebes, Thailand, Laos). S. mansoni is often seen in Puerto Ricans living in the United States." [] subset: ordo_disease {source="Orphanet:1247"} synonym: "Bilharzia" EXACT [NCIT:C35000] synonym: "Bilharziasis" EXACT [] synonym: "bilharziasis" EXACT [Orphanet:1247] synonym: "Katayama Fever" EXACT [] synonym: "schistosomiasis" EXACT [] {comment="preferred label from MONDO"} synonym: "schistosomiasis" EXACT [NCIT:C35000] synonym: "snail fever" EXACT [NCIT:C35000] xref: DOID:1395 {source="MONDO:equivalentTo"} xref: ICD10:B65 xref: ICD9:120.8 {source="DOID:1395", source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:120.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10039603 {source="Orphanet:1247", source="Orphanet:1247/e"} xref: MedDRA:10039611 xref: MESH:D012552 {source="MONDO:equivalentTo", source="Orphanet:1247", source="Orphanet:1247/e"} xref: MeSH:D012552 xref: MONDO:0015254 xref: NCIT:C35000 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIt:C35000 xref: Orphanet:1247 {source="MONDO:equivalentTo"} xref: SCTID:10087007 {source="MONDO:equivalentTo"} xref: UMLS:C0036323 {source="NCIT:C35000", source="MONDO:equivalentTo", source="Orphanet:1247", source="Orphanet:1247/e"} xref: Wikipedia:Schistosomiasis is_a: EFO:1001342 {source="DOID:1395", source="MESH:D012552/inferred"} ! Helminthiasis is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare property_value: closeMatch http://identifiers.org/meddra/10039603 property_value: exactMatch DOID:1395 property_value: exactMatch http://identifiers.org/mesh/D012552 property_value: exactMatch http://identifiers.org/snomedct/10087007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036323 property_value: exactMatch NCIT:C35000 property_value: exactMatch Orphanet:1247 property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001476 name: streptococcal infection def: "Any of the several infectious disorders caused by members of streptococcus, a genus of gram positive bacteria belonging to the family Streptococcaceae. Streptococcal infections are classified into Groups A, B, C, D and G." [NCIT:C87062] def: "Infections with bacteria of the genus STREPTOCOCCUS." [] synonym: "infection, streptococcal" RELATED [MESH:D013290] synonym: "infections, streptococcal" RELATED [MESH:D013290] synonym: "streptococcal infection" EXACT [] {comment="preferred label from MONDO"} synonym: "streptococcal infection" EXACT [MESH:D013290, NCIT:C87062] synonym: "Streptococcal Infections" EXACT [] synonym: "Streptococcus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Streptococcus disease or disorder" EXACT [] synonym: "Streptococcus infectious disease" EXACT [] xref: ICD9:041.00 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:041.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10061372 xref: MESH:D013290 {source="MONDO:equivalentTo"} xref: MeSH:D013290 xref: MONDO:0021680 xref: NCIT:C87062 {source="MONDO:equivalentTo"} xref: SCTID:85769006 {source="MONDO:equivalentTo"} xref: UMLS:C0038395 {source="NCIT:C87062", source="MONDO:equivalentTo"} xref: Wikipedia:Streptococcus is_a: MONDO:0021679 {source="MESH:D013290"} ! gram-positive bacterial infections property_value: exactMatch http://identifiers.org/mesh/D013290 property_value: exactMatch http://identifiers.org/snomedct/85769006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038395 property_value: exactMatch NCIT:C87062 property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001477 name: Systemic capillary leak syndrome def: "Systemic capillary leak syndrome (SCLS) is a severe systemic disease due to increased capillary permeability, characterized by episodes of hypotension, edema and hypovolemia." [] synonym: "Capillary hyperpermeability syndrome" EXACT [] synonym: "Capillary leak syndrome" EXACT [] synonym: "Clarkson disease" EXACT [] synonym: "Idiopathic capillary leak syndrome" EXACT [] synonym: "SCLS" EXACT [] xref: MeSH:D019559 xref: ORDO:Orphanet_188 is_a: EFO:0004264 ! vascular disease property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001478 name: systemic inflammatory response syndrome def: "SIRS is a serious condition related to systemic inflammation, organ dysfunction, and organ failure. It is a subset of cytokine storm, in which there is abnormal regulation of various cytokines. SIRS is also closely related to sepsis, in which patients satisfy criteria for SIRS and have a suspected or proven infection." [] synonym: "Inflammatory Response Syndrome, Systemic" EXACT [] synonym: "Sepsis Syndrome" EXACT [] synonym: "SIRS" EXACT [] xref: ICD9:995.9 xref: MedDRA:10051379 xref: MeSH:D018746 xref: NCIt:C94832 xref: SNOMEDCT:238149007 xref: Wikipedia:Systemic_inflammatory_response_syndrome is_a: MP:0001845 ! inflammation property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001479 name: Tumor Lysis Syndrome def: "a group of metabolic abnormalities that can occur as a complication during the treatment of cancer, most commonly after the treatment of lymphomas and leukemias." [] synonym: "TLS" EXACT [] xref: MedDRA:10045152 xref: Wikipedia:Tumor_lysis_syndrome is_a: EFO:0000589 ! metabolic disease property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001480 name: metastatic colorectal cancer def: "colorectal cancer that has already spread to distant sites and is considered stage IV" [] xref: MedDRA:10052362 is_a: EFO:0009709 ! metastatic neoplasm is_a: MONDO:0005575 ! colorectal cancer relationship: EFO:0000784 UBERON:0000059 ! has_disease_location large intestine property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1001481 name: enterocolitis def: "An inflammatory process affecting the small intestine and colon. Causes include viruses, bacteria, radiation, and antibiotics use." [NCIT:C79573] def: "Enterocolitis or coloenteritis is an inflammation of the digestive tract, involving enteritis of the small intestine and colitis of the colon. It may be caused by various infections, with bacteria, viruses, fungi, parasites, or other causes. Common clinical manifestations of enterocolitis are frequent diarrheal defecations, with or without nausea, vomiting, abdominal pain, fever, chills, alteration of general condition. General manifestations are given by the dissemination of the infectious agent or its toxins throughout the body, or – most frequently – by significant losses of water and minerals, the consequence of diarrhea and vomiting." [] synonym: "coloenteritis" EXACT [] synonym: "enterocolitis" EXACT [MONDO:ambiguous, OMIM:226150] synonym: "enterocolitis" EXACT [] {comment="preferred label from MONDO"} synonym: "enterocolitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0004387 {source="MONDO:otherHierarchy"} xref: ICD9:558.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10014893 xref: MESH:D004760 {source="MONDO:equivalentTo"} xref: MeSH:D004760 xref: MONDO:0009172 xref: NCIT:C79573 {source="MONDO:equivalentTo"} xref: NCIt:C79573 xref: OMIM:226150 {source="MONDO:equivalentTo"} xref: SCTID:43752006 {source="MONDO:equivalentTo"} xref: SNOMEDCT:43752006 xref: UMLS:C0014356 {source="NCIT:C79573", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:226150"} xref: Wikipedia:Enterocolitis is_a: EFO:0000405 ! digestive system disease is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/D004760 property_value: exactMatch http://identifiers.org/snomedct/43752006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014356 property_value: exactMatch https://omim.org/entry/226150 property_value: exactMatch NCIT:C79573 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000589 "enterocolitis (disease)" xsd:string [Term] id: EFO:1001482 name: cardiotoxicity def: "Toxicity that impairs or damages the heart. This condition is often caused by the administration of a pharmaceutical agent that initiates a poisonous or toxic response in cardiac tissue." [] synonym: "cardiac toxicity" EXACT [] xref: MedDRA:10048610 xref: MeSH:D066126 xref: NCIt:C27994 is_a: EFO:0003777 ! heart disease is_a: EFO:0011061 ! toxicity relationship: EFO:0000784 UBERON:0000948 ! has_disease_location heart property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1001483 name: non-obstructive coronary artery disease def: "Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries." [] synonym: "non-occlusive coronary artery disease." EXACT [] xref: HP:0012436 is_a: EFO:0001645 ! coronary artery disease relationship: EFO:0000784 UBERON:0001621 ! has_disease_location coronary artery property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001484 name: pain agnosia def: "An agnosia that is a loss of the ability to perceive and process pain.\n\nPain Agnosia, also known as analgesia, is related to chronic pain requiring intraspinal analgesia and neuropathy, hereditary sensory and autonomic, type v. An important gene associated with Pain Agnosia is OPRM1 (Opioid Receptor Mu 1), and among its related pathways are Syndecan-3-mediated signaling events and Peptide ligand-binding receptors. Related mouse phenotypes are adipose tissue and integument. " [] def: "Loss of the ability to perceive and process pain." [NCIT:C125664] synonym: "agnosia for pain" EXACT [] synonym: "analgesia" EXACT [] synonym: "analgesia" RELATED [DOID:0060145] synonym: "pain agnosia" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0060145 {source="MONDO:equivalentTo"} xref: MONDO:0000675 xref: NCIT:C125664 {source="MONDO:equivalentTo"} xref: NCIt:C125664 xref: SNOMEDCT:285761007 is_a: EFO:0007136 {source="DOID:0060145", source="EFO:1001484", source="MONDO:Entailed", source="MONDO:Redundant"} ! agnosia property_value: definition:citation http://www.malacards.org/card/pain_agnosia xsd:string property_value: exactMatch DOID:0060145 property_value: exactMatch NCIT:C125664 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001485 name: acromegaly def: "Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations." [Orphanet:963] subset: gard_rare {source="GARD:0005725"} subset: ordo_disease {source="Orphanet:963"} synonym: "acromegaly" EXACT [] {comment="preferred label from MONDO"} synonym: "Growth hormone excess" RELATED [GARD:0005725] synonym: "pituitary giant" RELATED [GARD:0005725] synonym: "somatotroph adenoma" RELATED [GARD:0005725] xref: DOID:2449 {source="MONDO:equivalentTo"} xref: MedDRA:10000599 {source="Orphanet:963", source="Orphanet:963/e"} xref: MESH:D000172 {source="Orphanet:963", source="MONDO:equivalentTo", source="Orphanet:963/e", source="DOID:2449"} xref: MONDO:0019933 xref: NCIT:C84533 {source="MONDO:equivalentTo", source="DOID:2449"} xref: NCIt:C84533 xref: ORDO:Orphanet_963 xref: Orphanet:963 {source="MONDO:equivalentTo"} xref: SCTID:74107003 {source="MONDO:equivalentTo", source="DOID:2449"} xref: SNOMEDCT:74107003 xref: UMLS:C0001206 {source="Orphanet:963", source="MONDO:equivalentTo", source="Orphanet:963/e", source="DOID:2449", source="NCIT:C84533"} is_a: EFO:1000973 {source="DOID:2449", source="MESH:D000172"} ! hyperpituitarism is_a: Orphanet:156638 ! Rare genetic endocrine disease property_value: closeMatch http://identifiers.org/meddra/10000599 property_value: exactMatch DOID:2449 property_value: exactMatch http://identifiers.org/mesh/D000172 property_value: exactMatch http://identifiers.org/snomedct/74107003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001206 property_value: exactMatch NCIT:C84533 property_value: exactMatch Orphanet:963 property_value: excluded_subClassOf MONDO:0007052 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5725/acromegaly xsd:anyURI {source="GARD:0005725"} [Term] id: EFO:1001486 name: primary biliary cirrhosis def: "An autoimmune inflammatory disorder characterized by destruction of the small intrahepatic bile ducts. It affects predominantly females and it may lead to cirrhosis and liver failure. Patients have antimitochondrial and antinuclear antibodies in the peripheral blood." [] def: "Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure." [Orphanet:186] comment: synonym added subset: ordo_disease {source="Orphanet:186"} synonym: "biliary cirrhosis, primary" RELATED [OMIMPS:109720] synonym: "biliary liver cirrhosis" EXACT [DOID:12236] synonym: "cholestatic cirrhosis" EXACT [DOID:12236] synonym: "chronic non-suppurative destructive cholangitis" EXACT [NCIT:C27167] synonym: "chronic nonsuppurative destructive cholangitis" EXACT [DOID:12236] synonym: "familial primary biliary cirrhosis" RELATED [GARD:0007459] synonym: "Hanot syndrome" EXACT [Orphanet:186] synonym: "PBC" EXACT ABBREVIATION [Orphanet:186] synonym: "primary Bilary cirrhosis (PBC)" EXACT [NCIT:C27167] synonym: "primary biliary cholangitis" EXACT [] {comment="preferred label from MONDO"} synonym: "primary biliary cirrhosis" EXACT [Orphanet:186] xref: DOID:12236 {source="EFO:0004267", source="MONDO:equivalentTo"} xref: EFO:0004267 {source="MONDO:equivalentTo", source="DOID:12236"} xref: ICD10:K74.3 xref: ICD9:571.6 {source="EFO:0004267", source="DOID:12236"} xref: MedDRA:10004661 {source="Orphanet:186/e", source="Orphanet:186"} xref: MedDRA:10019137 {source="Orphanet:186/e", source="Orphanet:186"} xref: MedDRA:10036680 xref: MESH:D008105 {source="MONDO:equivalentTo", source="DOID:12236"} xref: MONDO:0005388 xref: NCIT:C27167 {source="EFO:0004267", source="MONDO:equivalentTo", source="DOID:12236"} xref: NCIt:C27167 xref: OMIMPS:109720 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:186 {source="MONDO:equivalentTo", source="DOID:12236"} xref: SCTID:31712002 {source="EFO:0004267", source="MONDO:equivalentTo", source="DOID:12236"} xref: SNOMEDCT:31712002 xref: UMLS:C0008312 {source="Orphanet:186/e", source="NCIT:C27167", source="MONDO:equivalentTo", source="Orphanet:186", source="DOID:12236"} is_a: EFO:0004267 ! biliary liver cirrhosis is_a: MONDO:0007329 ! cirrhosis, familial is_a: MONDO:0015509 ! hereditary biliary tract disease property_value: closeMatch http://identifiers.org/meddra/10004661 property_value: closeMatch http://identifiers.org/meddra/10019137 property_value: exactMatch DOID:12236 property_value: exactMatch http://identifiers.org/mesh/D008105 property_value: exactMatch http://identifiers.org/snomedct/31712002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008312 property_value: exactMatch https://omim.org/phenotypicSeries/PS109720 property_value: exactMatch NCIT:C27167 property_value: exactMatch Orphanet:186 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001487 name: secondary biliary cirrhosis def: "Secondary biliary cirrhosis develops due to long-term partial or total obstruction of the large bile ducts outside of the liver. When the ducts are damaged, bile (which is a substance that helps digest fat) builds up in the liver and damages the liver tissue." [] xref: ICD10:K74.4 xref: SNOMEDCT:12368000 is_a: EFO:0004267 ! biliary liver cirrhosis property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001488 name: influenza A (H1N1) def: "Viral infectious disease caused by the H1N1 strain of the influenza type A virus. Symptoms can range from mild to extremely severe." [] is_a: EFO:0005226 ! swine influenza property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001489 name: skin and soft tissue Staphylococcus aureus infection def: "Staphylococcus aureus infection that occurs specifically in skin or soft tissue and manifests through a specific range of symptoms including but not necesarrily limited to erysipelas, cellulitis, abscesses, mastitis, carbuncle and furuncle, acute lymphadenitis, impetigo, folliculitis and hidradenitis " [] synonym: "SSTI" EXACT [] xref: PMID:26450422 is_a: EFO:0005681 ! Staphylococcus aureus infection relationship: EFO:0000784 UBERON:0000014 ! has_disease_location zone of skin property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1001490 name: late-onset myasthenia gravis def: "Acquired myasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma." [Orphanet:391490] def: "late-onset myasthenia gravis is a form of MG that occurs in individuals aged 50 years or older" [] subset: ordo_clinical_subtype {source="Orphanet:391490"} synonym: "adult-onset acquired myasthenia" EXACT [Orphanet:391490] synonym: "adult-onset autoimmune myasthenia gravis" EXACT [Orphanet:391490] synonym: "adult-onset myasthenia gravis" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0018324 xref: Orphanet:391490 {source="MONDO:equivalentTo"} xref: PMID:26562150 is_a: EFO:0004991 {source="Orphanet:391490"} ! Myasthenia gravis property_value: exactMatch Orphanet:391490 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001491 name: abortion def: "the ending of pregnancy by removing a fetus or embryo before it can survive outside the uterus." [] synonym: "loss of pregnancy" EXACT [] xref: ICD10:O04 xref: ICD10:O06 xref: MedDRA:10000210 xref: MESH:D000028 {http://www.w3.org/2004/02/skos/core#narrowMatch=""} xref: Wikipedia:Abortion is_a: EFO:0009549 ! female reproductive system disease relationship: EFO:0000784 UBERON:0000474 ! has_disease_location female reproductive system property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001492 name: atrophic macular degeneration def: "Dry AMD is most common type of macular degeneration and affects 90% of the people who have the condition. In the dry form, there is a breakdown or thinning of the layer of retinal pigment epithelial cells (RPE) in the macula. No medical or surgical treatment is available for this condition." [] synonym: "dry macular degeneration" EXACT [] synonym: "geographic atrophy" EXACT [] xref: MedDRA:10067792 is_a: EFO:0001365 ! age-related macular degeneration property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001493 name: cardiac embolism def: "an embolism that is a result of an obstruction in a cardiac vessel due to a blood clot or other foreign matters" [] synonym: "cardioembolism" EXACT [] is_a: EFO:0003777 ! heart disease is_a: EFO:0004264 ! vascular disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001494 name: psoriasis vulgaris def: "Plaque psoriasis is the most common presentation of psoriasis. It presents as small to large, well demarcated, red, scaly and thickened areas of skin. It most likely to affect elbows, knees, and lower back but may arise on any part of the body." [] synonym: "plaque psoriasis" EXACT [] xref: ICD10:L40.0 xref: MedDRA:10050576 xref: SNOMEDCT:200975007 is_a: EFO:0000676 ! psoriasis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001495 name: small artery occlusion def: "blockage of blood flow through a small artery, particularly in the brain" [] is_a: EFO:0004264 ! vascular disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001496 name: Autosomal dominant polycystic kidney disease def: "Autosomal dominant form of polycystic kidney disease." [https://orcid.org/0000-0001-5208-3432, MONDO:patterns/autosomal_dominant] def: "Autosomal dominant polycystic kidney disease (ADPKD) is an inherited condition that causes small, fluid-filled sacs called cysts to develop in the kidneys." [] synonym: "ADPKD" EXACT ABBREVIATION [Orphanet:730] synonym: "ADPKD - Autosomal dominant polycystic kidney disease" EXACT [] synonym: "adult type autosomal dominant polycystic kidney disease" EXACT [] synonym: "Autosomal dominant adult polycystic kidney disease" EXACT [] synonym: "Autosomal dominant polycystic kidney disease" EXACT [] synonym: "autosomal dominant polycystic kidney disease" EXACT [] {comment="preferred label from MONDO"} synonym: "congenital biliary ectasias" RELATED [DOID:898] synonym: "polycystic kidney disease, adult type" EXACT [] synonym: "Polycystic kidney disease, adult type (disorder)" EXACT [] synonym: "polycystic kidney disease, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] synonym: "polycystic kidney, autosomal dominant" EXACT [] synonym: "Polycystic kidneys - adult type" EXACT [] xref: DOID:898 {source="MONDO:equivalentTo"} xref: ICD9:753.12 {source="DOID:898"} xref: ICD9:753.13 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10036046 xref: MESH:D016891 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2212"} xref: MeSH:D016891 xref: MONDO:0004691 xref: NCIT:C84578 {source="MONDO:equivalentTo"} xref: NCIt:C84578 xref: OMIM:600666 xref: OMIM:618061 xref: Orphanet:730 {source="DOID:898", source="MONDO:equivalentTo"} xref: SCTID:765330003 {source="MONDO:equivalentTo"} xref: SNOMEDCT:28728008 xref: UMLS:C0085413 {source="NCIT:C84578", source="MONDO:notFoundInDiseaseSubset", xref="MONDO:equivalentTo"} xref: UMLS:CN119611 {source="MONDO:equivalentObsolete"} is_a: EFO:0008620 {source="NCIT:C84578"} ! Polycystic Kidney Disease is_a: MONDO:0000426 {source="DOID:898", source="MONDO:Redundant"} ! autosomal dominant disease is_a: Orphanet:98056 ! Rare genetic renal disease relationship: EFO:0000784 UBERON:0002113 ! has_disease_location kidney property_value: exactMatch DOID:898 property_value: exactMatch http://identifiers.org/mesh/D016891 property_value: exactMatch http://identifiers.org/snomedct/765330003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085413 property_value: exactMatch NCIT:C84578 property_value: exactMatch Orphanet:730 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001497 name: cardiac conduction defect def: "heart rhythm disturbance where the heart’selectrical impulses are conducted very slowly." [] synonym: "cardiac conduction defect, nonspecific" EXACT [] synonym: "nonspecific cardiac conduction defect" EXACT [] synonym: "SCD" EXACT [] synonym: "sudden cardiac death" EXACT [] xref: MeSH:C562490 xref: OMIM:115080 is_a: EFO:0004269 ! cardiac arrhythmia property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001498 name: disseminated atypical mycobacterial infection def: "Atypical mycobacterial infections are infections caused by several types ofmycobacteria similar to the germ that causes tuberculosis. These atypical mycobacterial infections are a frequent complication in patients with human immunodeficiency virus (HIV) infection or AIDS." [] xref: SNOMEDCT:240413000 is_a: EFO:0000771 ! bacterial disease property_value: definition:citation http://medical-dictionary.thefreedictionary.com/Atypical+Mycobacterial+Infections xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001499 name: histiocytic medullary reticulosis def: "rare hereditary disease characterized by histiocytic infiltration of the lungs and lymph nodes. The liver, spleen, and central nervous system can also be affected" [] xref: MedDRA:10068785 xref: SNOMEDCT:307650006 is_a: EFO:0005561 ! histiocytoma property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001500 name: intellectual disability with language impairment def: "Intellectual disability with language impairment and with or without autistic features is a neurodevelopmental disorder characterized by global developmental delay with moderate to severe speech delay that particularly affects expressive speech. Most patients have articulation defects, but frank verbal dyspraxia is not observed. Common dysmorphic features include broad forehead, downslanting palpebral fissures, short nose with broad tip, relative macrocephaly, frontal hair upsweep, and prominent digit pads. Gross motor skills are also delayed. Some patients have autistic features and/or behavioral problems. All reported cases have occurred de novo (review by Le Fevre et al., 2013)." [] synonym: "intellectual disability with language impairment and autistic features" EXACT [] synonym: "intellectual disability with language impairment and with or without autistic features" EXACT [] synonym: "intellectual disability with language impairment without autistic features" EXACT [] xref: OMIM:613670 xref: OMIM:617682 is_a: EFO:0005425 ! language impairment property_value: definition:citation https://www.ncbi.nlm.nih.gov/gtr/conditions/C3150923/ xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001501 name: pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 def: "A disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length." [] def: "Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the TERT gene." [MONDO:patterns/disease_series_by_gene] synonym: "PFBMFT1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614742] synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in TERT" EXACT [MONDO:design_pattern] synonym: "pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 1" RELATED [OMIM:614742] synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1" EXACT [] {comment="preferred label from MONDO"} synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1" EXACT [MONDO:Lexical, OMIM:614742] synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 1" EXACT [MONDORULE:1, OMIM:614742] synonym: "TERT pulmonary fibrosis and/or bone marrow failure, Telomere-related" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MONDO:0013878 xref: OMIM:614742 {source="MONDO:equivalentTo"} xref: Orphanet:88 {source="OMIM:614742", source="MONDO:relatedTo"} xref: UMLS:C3553617 {source="OMIM:614742", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000148 {source="DC-OMIM:614742", source="MONDO:Redundant", source="OMIM:614742"} ! pulmonary fibrosis and/or bone marrow failure, telomere-related is_a: Orphanet:68335 ! Chromosomal anomaly property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553617 property_value: exactMatch https://omim.org/entry/614742 property_value: excluded_subClassOf MONDO:0008345 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001502 name: rasopathy def: "Developmental syndrome caused by germline mutations in genes that alter the RAS subfamily and mitogen-activated protein kinases that control signal transduction. Known rasopathies include Noonan syndrome, LEOPARD syndrome, Colstello syndrome, neurofibromatosis type 1 and autoimmune lymphoproliferative syndrome" [] def: "Developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction." [Wikipedia:RASopathy] subset: disease_grouping subset: ordo_group_of_disorders synonym: "disorder of Ras protein signal transduction" EXACT [MONDO:patterns/basis_in_disruption_of_process] synonym: "Ras protein signal transduction disease" EXACT [MONDO:design_pattern] synonym: "RASopathy" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0080690 {source="MONDO:equivalentTo"} xref: MONDO:0021060 xref: NCIT:C179667 {xref="MONDO:equivalentTo"} xref: Orphanet:536391 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/606"} xref: Wikipedia:RASopathy is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-0736-9199"} ! genetic disorder property_value: exactMatch DOID:0080690 property_value: exactMatch NCIT:C179667 property_value: exactMatch Orphanet:536391 property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001503 name: type II diabetes mellitus with acanthosis nigricans def: "acanthosis nigricans (AN) in type 2 diabetes mellitus (T2DM)" [] synonym: "Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans, Type A" EXACT [] synonym: "Insulin Receptor Defect with Insulin-Resistant Diabetes Mellitus and Acanthosis Nigricans" EXACT [] synonym: "Insulin-resistant diabetes mellitus AND acanthosis nigricans" EXACT [] synonym: "insulin-resistant diabetes mellitus and acanthosis nigricans" EXACT [] synonym: "IRAN, Type A" EXACT [] synonym: "Type 2 diabetes mellitus with acanthosis nigricans" EXACT [] synonym: "type 2 diabetes mellitus with acanthosis nigricans" EXACT [] synonym: "Type 2 diabetes mellitus with acanthosis nigricans (disorder)" EXACT [] xref: MeSH:C562710 xref: SNOMEDCT:9859006 is_a: MONDO:0005148 ! type 2 diabetes mellitus property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001504 name: small vessel stroke def: "stroke caused by the blockage of blood flow in one of the small blood vessels in the brain" [] xref: PMID:7678184 is_a: EFO:0000712 ! stroke property_value: dc-creator "Dani Welter" xsd:string property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1001505 name: cystic liver disease def: "Cystic disease of the liver is rare and can take several forms. Cysts in the main trunk of the biliary tree are called choledochal cysts. Cysts that occur in the small branches of bile ducts within the liver are referred to as Caroli’s syndrome. The other cysts in the liver that do not occur in the biliary tree are referred to as polycystic liver disease." [] synonym: "cystic disease of the liver" EXACT [] xref: HP:0006706 is_a: EFO:0001421 ! liver disease property_value: definition:citation http://www.liver.ca/liver-disease/types/cystic-disease.aspx xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001506 name: primary angle closure glaucoma def: "A type of glaucoma with optic nerve damage in an eye that has evidence of angle closure and in which there is no evidence of a secondary cause. Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disc ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis." [] def: "An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component." [DOID:1405] synonym: "primary angle closure glaucoma" EXACT [DOID:1405] synonym: "primary angle-closure glaucoma" EXACT [] {comment="preferred label from MONDO"} xref: DOID:1405 {source="MONDO:equivalentTo"} xref: HP:0012109 xref: ICD10CM:H40.2 {source="MONDO:equivalentTo", source="DOID:1405"} xref: ICD9:365.2 {source="DOID:1405"} xref: ICD9:365.20 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1405"} xref: MedDRA:10002500 xref: MONDO:0001868 xref: NCIT:C34640 {source="MONDO:equivalentObsolete", source="DOID:1405"} xref: NCIt:C34640 xref: SCTID:392288006 {source="MONDO:equivalentTo", source="DOID:1405"} xref: UMLS:C0017606 {source="MONDO:equivalentTo", source="DOID:1405"} is_a: MONDO:0001744 {source="DOID:1405"} ! angle-closure glaucoma property_value: exactMatch DOID:1405 property_value: exactMatch http://identifiers.org/snomedct/392288006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017606 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H40.2 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001507 name: asparaginase-induced acute pancreatitis def: "acute pancreatits that is the result of treatment with asparaginase, an enzyme used in some cancer treatments" [] is_a: EFO:1000652 ! acute pancreatitis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001510 name: specific language impairment def: "A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors." [DOID:0060244, http://en.wikipedia.org/wiki/Specific_language_impairment, PMID:19646677] synonym: "developmental language disorder" EXACT [] synonym: "language impairment (disease)" EXACT [] synonym: "specific language impairment" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0060244 {source="MONDO:equivalentTo"} xref: MONDO:0000724 xref: OMIMPS:606711 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:458713 {source="MONDO:equivalentObsolete"} xref: UMLS:C0454651 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0004750 {source="DOID:0060244"} ! language disorder property_value: exactMatch DOID:0060244 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0454651 property_value: exactMatch https://omim.org/phenotypicSeries/PS606711 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001511 name: monogenic diabetes def: "Diabetes mellitus that is caused by mutations in a single gene." [https://doi.org/10.2337/dci20-0065] def: "Monogenic diabetes is any form of rare diabetes mellitus that can be attributed to a single genetic factor (rather than the more common polygenic autoimmune varieties). The age of onset of monogenic diabetes is wide ranging, from neonatal all the way through to adult although most cases occur before the onset of adulthood." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:183625"} synonym: "monogenic diabetes" EXACT [] {comment="preferred label from MONDO"} synonym: "monogenic diabetes mellitus" EXACT [] synonym: "rare genetic diabetes mellitus" EXACT [] xref: MedDRA:10075980 xref: MONDO:0015967 xref: NCIT:C129739 {source="MONDO:equivalentTo"} xref: Orphanet:183625 {source="MONDO:equivalentTo"} xref: PMID:27207547 xref: PMID:27271189 xref: PMID:27474216 is_a: EFO:0000400 ! diabetes mellitus is_a: EFO:0005140 ! autoimmune disease is_a: MONDO:0019052 ! inborn errors of metabolism intersection_of: EFO:0000400 ! diabetes mellitus intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch NCIT:C129739 property_value: exactMatch Orphanet:183625 property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI [Term] id: EFO:1001512 name: endometrial carcinoma def: "A malignant tumor arising from the epithelium that lines the cavity of the uterine body. The vast majority of endometrial carcinomas are adenocarcinomas; squamous cell and adenosquamous carcinomas represent a minority of the cases. Endometrioid adenocarcinoma is the most frequently seen variant of endometrial adenocarcinoma. Uterine bleeding is an initial clinical sign. The prognosis depends on the stage of the tumor, the depth of myometrial wall invasion, and the degree of differentiation." [NCIT:C7558] synonym: "carcinoma of endometrium" EXACT [MONDO:patterns/carcinoma, NCIT:C7558] synonym: "carcinoma of the endometrium" EXACT [DOID:2871, NCIT:C7558] synonym: "carcinoma, endometrial, malignant" EXACT [NCIT:C7558] synonym: "endometrial cancer" BROAD [NCIT:C7558] synonym: "endometrial cancer" EXACT [NCIT:C7558] synonym: "endometrial carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "endometrial carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "endometrial carcinoma" EXACT [MONDO:ambiguous, NCIT:C7558] synonym: "endometrial carcinoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "endometrium carcinoma" EXACT [MONDO:patterns/location] xref: DOID:2871 {source="MONDO:equivalentTo"} xref: HP:0012114 {source="MONDO:otherHierarchy"} xref: MONDO:0002447 xref: NCIT:C7558 {source="DOID:2871", source="MONDO:equivalentTo"} xref: ONCOTREE:UCEC {source="MONDO:equivalentTo"} xref: SCTID:254878006 {source="DOID:2871", source="MONDO:equivalentTo"} xref: UMLS:C0206687 {source="DOID:2871", source="MONDO:relatedTo"} xref: UMLS:C0476089 {source="DOID:2871", source="MONDO:equivalentTo", source="NCIT:C7558"} is_a: EFO:0002919 ! uterine carcinoma is_a: MONDO:0011962 {source="DOID:2871", source="MONDO:Redundant", source="NCIT:C7558"} ! endometrial cancer relationship: EFO:0000784 UBERON:0001295 ! has_disease_location endometrium property_value: closeMatch http://identifiers.org/mesh/D018269 property_value: closeMatch http://identifiers.org/snomedct/154526001 property_value: closeMatch http://identifiers.org/snomedct/269600001 property_value: closeMatch http://identifiers.org/snomedct/30289006 property_value: closeMatch http://identifiers.org/snomedct/93781006 property_value: exactMatch DOID:2871 property_value: exactMatch DOID:2871 property_value: exactMatch http://identifiers.org/snomedct/254878006 property_value: exactMatch http://identifiers.org/snomedct/254878006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0476089 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0476089 property_value: exactMatch NCIT:C7558 property_value: exactMatch NCIT:C7558 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml property_value: IAO:0000589 "endometrial carcinoma (disease)" xsd:string [Term] id: EFO:1001513 name: liver neoplasm def: "Tumors or cancers of the LIVER." [] synonym: "Cancer of liver" EXACT [] synonym: "Cancer of the liver" EXACT [] synonym: "Cancer, hepatic" EXACT [] synonym: "Cancer, liver" EXACT [] synonym: "Cancers, hepatic" EXACT [] synonym: "Cancers, liver" EXACT [] synonym: "Hepatic Cancer" EXACT [] synonym: "Hepatic Cancers" EXACT [] synonym: "Hepatic Neoplasms" EXACT [] synonym: "liver Cancer" EXACT [] synonym: "liver Cancers" EXACT [] synonym: "LIVER NEOPL" EXACT [] synonym: "NEOPL LIVER" EXACT [] synonym: "Neoplasm, hepatic" EXACT [] synonym: "Neoplasm, liver" EXACT [] xref: DOID:916 xref: ICD10:C22 xref: MedDRA:10019695 xref: MedDRA:10024702 xref: MeSH:D008113 is_a: EFO:0000616 ! neoplasm is_a: EFO:0001421 ! liver disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001514 name: endometrial endometrioid carcinoma def: "endometrioid carcinoma located in the lining of the uterus" [] is_a: EFO:0000466 ! endometrioid carcinoma is_a: EFO:1001512 ! endometrial carcinoma relationship: EFO:0000784 UBERON:0001295 ! has_disease_location endometrium property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001515 name: ovarian endometrioid carcinoma def: "endometrioid carcinoma located in the ovary" [] xref: MedDRA:10073269 is_a: EFO:0000466 ! endometrioid carcinoma is_a: EFO:0005771 ! ovarian disease relationship: EFO:0000784 UBERON:0000992 ! has_disease_location ovary property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001516 name: ovarian serous carcinoma def: "serous carcinoma located in the ovary" [] is_a: EFO:0001075 ! ovarian carcinoma relationship: EFO:0000784 UBERON:0000992 ! has_disease_location ovary property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001517 name: renal fibrosis def: "A final common manifestation of a wide variety of chronic kidney diseases characterized by glomerulosclerosis and tubulointerstitial fibrosis." [MONDO:cjm, PMID:16408108] def: "Renal fibrosis is the inevitable consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease. The pathogenesis of renal fibrosis is a progressive process that ultimately leads to end-stage renal failure, a devastating disorder that requires dialysis or kidney transplantation." [] synonym: "kidney fibrosis" EXACT [] synonym: "renal fibrosis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0050855 {source="MONDO:equivalentTo"} xref: HP:0030760 xref: MONDO:0000494 xref: MP:0003985 xref: PMID:16408108 xref: SCTID:197660000 {source="MONDO:equivalentTo"} xref: SNOMEDCT:197660000 xref: UMLS:C0151650 {source="MONDO:equivalentTo"} is_a: EFO:0006890 ! fibrosis is_a: MONDO:0000490 {source="MONDO:cjm"} ! glomerulosclerosis intersection_of: EFO:0006890 ! fibrosis intersection_of: EFO:0000784 UBERON:0002113 ! has_disease_location kidney relationship: disease_has_feature MONDO:0000490 ! glomerulosclerosis property_value: exactMatch DOID:0050855 property_value: exactMatch http://identifiers.org/snomedct/197660000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151650 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001518 name: heavy metal poisoning def: "Heavy metal poisoning is the accumulation of heavy metals, in toxic amounts, in the soft tissues of the body. Symptoms and physical findings associated with heavy metal poisoning vary according to the metal accumulated. Many of the heavy metals, such as zinc, copper, chromium, iron and manganese, are essential to body function in very small amounts. But, if these metals accumulate in the body in concentrations sufficient to cause poisoning, then serious damage may occur. The heavy metals most commonly associated with poisoning of humans are lead, mercury, arsenic and cadmium. Heavy metal poisoning may occur as a result of industrial exposure, air or water pollution, foods, medicines, improperly coated food containers, or the ingestion of lead-based paints." [] def: "Heavy metal poisoning refers to when excessive exposure to a heavy metal affects the normal function of the body. Examples of heavy metals that can cause toxicity include lead, mercury, arsenic, cadmium, and chromium. Exposure may occur through the diet, from medications, from the environment, or in the course of work or play. Heavy metals can enter the body through the skin, or by inhalation or ingestion. Toxicity can result from sudden, severe exposure, or from chronic exposure over time. Symptoms can vary depending on the metal involved, the amount absorbed, and the age of the person exposed. For example, young children are more susceptible to the effects of lead exposure because they absorb more compared with adults and their brains are still developing. Nausea, vomiting, diarrhea, and abdominal pain are common symptoms of acute metal ingestion. Chronic exposure may cause various symptoms resulting from damage to body organs, and may increase the risk of cancer. Treatment depends on the circumstances of the exposure." [GARD:0006577] subset: gard_rare synonym: "chronic heavy metal poisoning" RELATED [GARD:0006577, MESH:C535854] synonym: "heavy metal poisoning" EXACT [] {comment="preferred label from MONDO"} synonym: "heavy metal poisoning" EXACT [MESH:C535854] synonym: "heavy metal toxicity" RELATED [GARD:0006577] synonym: "heavy metal toxicosis" RELATED [] synonym: "toxic effect of heavy metal" EXACT [] xref: ICD10:T56 xref: ICD9:985.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10019359 xref: MESH:D000075322 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: MONDO:0023305 xref: SCTID:85866007 {source="MONDO:equivalentTo"} is_a: EFO:0008546 {source="MONDO:cjm"} ! poisoning relationship: has_characteristic MONDO:0021136 {source="MONDO:0015224"} ! rare property_value: definition:citation https://rarediseases.org/rare-diseases/heavy-metal-poisoning/ xsd:string property_value: exactMatch http://identifiers.org/mesh/D000075322 property_value: exactMatch http://identifiers.org/snomedct/85866007 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6577/heavy-metal-poisoning xsd:anyURI {source="GARD:0006577"} [Term] id: EFO:1001753 name: abdominal abscess def: "An abscess located in the abdominal cavity, i.e., the cavity between the diaphragm above and the pelvis below. (From Dorland, 27th ed)" [] xref: MedDRA:10060921 xref: MeSH:D018784 xref: SNOMEDCT:75100008 is_a: EFO:0003030 ! abscess property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001754 name: Abruptio Placentae def: "Premature separation of the normally implanted PLACENTA from the UTERUS. Signs of varying degree of severity include UTERINE BLEEDING, uterine MUSCLE HYPERTONIA, and FETAL DISTRESS or FETAL DEATH." [] def: "Vaginal bleeding preceding the 20th week of gestation." [NCIT:P378] synonym: "abruptio placenta" EXACT [DOID:9667] synonym: "abruptio placentae" EXACT [DOID:9667] synonym: "Abruptio placentae, premature separation of placenta" EXACT [NCIT:C26685] synonym: "placental abruption" EXACT [] {comment="preferred label from MONDO"} synonym: "placental abruption" EXACT [MONDO:ambiguous] synonym: "placental abruption (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "premature separation of placenta" EXACT [NCIT:C26685] xref: DOID:9667 {source="MONDO:equivalentTo"} xref: HP:0011419 {source="MONDO:otherHierarchy"} xref: ICD10:O45 xref: ICD9:640.0 {source="DOID:9667"} xref: ICD9:640.03 {source="DOID:9667"} xref: ICD9:641.20 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10000267 xref: MESH:D000037 {source="MONDO:equivalentTo"} xref: MeSH:D000037 xref: MONDO:0004846 xref: NCIT:C26685 {source="MONDO:equivalentTo"} xref: NCIt:C26685 xref: SCTID:415105001 {source="MONDO:equivalentTo"} is_a: EFO:0007441 {source="DOID:9667", source="MESH:D000037", source="NCIT:C26685/inferred"} ! placenta disease property_value: exactMatch DOID:9667 property_value: exactMatch http://identifiers.org/mesh/D000037 property_value: exactMatch http://identifiers.org/snomedct/415105001 property_value: exactMatch NCIT:C26685 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000589 "placental abruption (disease)" xsd:string [Term] id: EFO:1001755 name: accelerated phase myeloid leukemia def: "The phase of chronic myeloid leukemia following the chronic phase (leukemia, myeloid, chronic-phase), where there are increased systemic symptoms, worsening cytopenias, and refractory leukocytosis." [MESH:D015465] synonym: "Accelerated Phase Chronic Granulocytic Leukaemia" RELATED OMO:0003005 [] synonym: "Accelerated Phase Chronic Granulocytic Leukemia" RELATED [NCIT:C3173] synonym: "Accelerated Phase Chronic Myelocytic Leukaemia" RELATED OMO:0003005 [] synonym: "Accelerated Phase Chronic Myelocytic Leukemia" RELATED [NCIT:C3173] synonym: "Accelerated Phase Chronic Myelogenous Leukaemia" RELATED OMO:0003005 [] synonym: "Accelerated Phase Chronic Myelogenous Leukemia" RELATED [NCIT:C3173] synonym: "Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive" RELATED [NCIT:C3173] synonym: "Accelerated Phase Chronic Myeloid Leukaemia" RELATED OMO:0003005 [] synonym: "Accelerated phase chronic myeloid leukaemia" RELATED OMO:0003005 [] synonym: "Accelerated Phase Chronic Myeloid Leukemia" RELATED [NCIT:C3173] synonym: "Accelerated phase chronic myeloid leukemia" RELATED [UMLS:C0023472] synonym: "Accelerated Phase CML" RELATED [NCIT:C3173] synonym: "Aggressive-Phase Chronic Myelocytic Leukaemia" RELATED OMO:0003005 [] synonym: "Aggressive-Phase Chronic Myelocytic Leukemia" RELATED [NCIT:C3173] synonym: "Aggressive-Phase Chronic Myelogenous Leukaemia" RELATED OMO:0003005 [] synonym: "Aggressive-Phase Chronic Myelogenous Leukemia" RELATED [NCIT:C3173] synonym: "Aggressive-Phase Chronic Myeloid Leukaemia" RELATED OMO:0003005 [] synonym: "Aggressive-Phase Chronic Myeloid Leukemia" RELATED [NCIT:C3173] synonym: "Aggressive-Phase CML" RELATED [NCIT:C3173] synonym: "CML ACCELERATED" RELATED [MSH:D015465] synonym: "CML ACCELERATED" RELATED [MESH:D015465] synonym: "CML AGGRESSIVE" RELATED [MSH:D015465] synonym: "CML AGGRESSIVE" RELATED [MESH:D015465] synonym: "Leukemia, Myelogenous, Aggressive Phase" RELATED [MESH:D015465] synonym: "Leukemia, Myelogenous, Aggressive Phase" RELATED [MESH:D015465, MSH:D015465] synonym: "Leukemia, Myelogenous, Aggressive-Phase" RELATED [MESH:D015465] synonym: "Leukemia, Myelogenous, Aggressive-Phase" RELATED [MESH:D015465, MSH:D015465] synonym: "Leukemia, Myeloid, Accelerated Phase" RELATED [MSH:D015465] synonym: "Leukemia, Myeloid, Accelerated Phase" RELATED [MESH:D015465] synonym: "Leukemia, Myeloid, Accelerated-Phase" RELATED [MESH:D015465] synonym: "Leukemia, Myeloid, Accelerated-Phase" RELATED [MESH:D015465, MSH:D015465] synonym: "leukemia, myeloid, accelerated-phase" EXACT [] {comment="preferred label from MONDO"} synonym: "leukemia, myeloid, accelerated-phase" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "Leukemia, Myeloid, Aggressive-Phase" RELATED [MESH:D015465, MSH:D015465] synonym: "Leukemia, Myeloid, Aggressive-Phase" RELATED [MESH:D015465] synonym: "Myelogenous Leukemia, Chronic, Aggressive Phase" RELATED [MESH:D015465] synonym: "Myelogenous Leukemia, Chronic, Aggressive Phase" RELATED [MESH:D015465, MSH:D015465] synonym: "Myelogenous Leukemia, Chronic, Aggressive-Phase" RELATED [MESH:D015465] synonym: "Myelogenous Leukemia, Chronic, Aggressive-Phase" RELATED [MESH:D015465, MSH:D015465] synonym: "Myeloid Leukemia, Chronic, Accelerated Phase" RELATED [MESH:D015465] synonym: "Myeloid Leukemia, Chronic, Accelerated Phase" RELATED [MESH:D015465, MSH:D015465] synonym: "Myeloid Leukemia, Chronic, Accelerated-Phase" RELATED [MESH:D015465, MSH:D015465] synonym: "Myeloid Leukemia, Chronic, Accelerated-Phase" RELATED [MESH:D015465] synonym: "Myeloid Leukemia, Chronic, Aggressive Phase" RELATED [MESH:D015465] synonym: "Myeloid Leukemia, Chronic, Aggressive Phase" RELATED [MESH:D015465, MSH:D015465] synonym: "Myeloid Leukemia, Chronic, Aggressive-Phase" RELATED [MESH:D015465] synonym: "Myeloid Leukemia, Chronic, Aggressive-Phase" RELATED [MESH:D015465, MSH:D015465] xref: EFO:1001755 {source="MONDO:equivalentTo"} xref: MESH:D015465 {source="UMLS:C0023472", source="MONDO:equivalentTo"} xref: MONDO:0021367 xref: UMLS:C0023472 {source="MONDO:equivalentTo"} is_a: EFO:0000339 {source="UMLS:C0023472"} ! chronic myelogenous leukemia property_value: closeMatch http://identifiers.org/snomedct/413389003 property_value: closeMatch NCIT:C3173 property_value: exactMatch http://identifiers.org/mesh/D015465 property_value: exactMatch http://identifiers.org/mesh/D015465 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023472 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023472 [Term] id: EFO:1001756 name: Acrodynia def: "A condition seen primarily in childhood, most often resulting from chronic exposure to MERCURY COMPOUNDS which may result in encephalopathy and POLYNEUROPATHY. Clinical features include pain, swelling and pinkish discoloration of the fingers and toes, weakness in the extremities, extreme irritability, HYPERESTHESIA, and alterations in level of consciousness. (From Menkes, Textbook of Child Neurology, 5th ed, p603)" [] xref: MedDRA:10000598 xref: MeSH:D000170 xref: SNOMEDCT:238735005 xref: Wikipedia:Acrodynia is_a: EFO:0008546 ! poisoning property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001757 name: Adenomyosis def: "The extension of endometrial tissue (ENDOMETRIUM) into the MYOMETRIUM. It usually occurs in women in their reproductive years and may result in a diffusely enlarged uterus with ectopic and benign endometrial glands and stroma." [] synonym: "uterine corpus adenomyosis" EXACT [] xref: MedDRA:10056268 xref: MeSH:D062788 xref: NCIt:C6996 xref: OMIM:600458 is_a: EFO:0003893 ! ovarian neoplasm property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001758 name: ageusia def: "Complete or severe loss of the subjective sense of taste, frequently accompanied by OLFACTION DISORDERS." [] synonym: "loss of taste" EXACT [] xref: MedDRA:10001480 xref: MeSH:D000370 xref: NCIt:C116374 xref: SNOMEDCT:36955009 xref: Wikipedia:Ageusia is_a: HP:0000223 ! Abnormality of taste sensation property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001759 name: alcohol amnestic disorder def: "A mental disorder associated with chronic ethanol abuse (ALCOHOLISM) and nutritional deficiencies characterized by short term memory loss, confabulations, and disturbances of attention. (Adams et al., Principles of Neurology, 6th ed, p1139)" [MESH:D000425] synonym: "alcohol amnestic disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "alcohol amnestic disorders" RELATED [MESH:D000425] synonym: "alcohol amnestic syndrome" RELATED [MESH:D000425] synonym: "alcohol amnestic syndromes" RELATED [MESH:D000425] synonym: "alcohol induced amnestic psychosis" RELATED [MESH:D000425] synonym: "alcohol induced amnestic syndrome" RELATED [MESH:D000425] synonym: "alcohol induced Dysmnesic psychosis" RELATED [MESH:D000425] synonym: "alcohol induced Dysmnesic syndrome" RELATED [MESH:D000425] synonym: "alcohol induced Korsakoff syndrome" RELATED [MESH:D000425] synonym: "alcohol induced persisting amnestic disorder" RELATED [MESH:D000425] synonym: "alcohol-induced amnestic psychoses" RELATED [MESH:D000425] synonym: "alcohol-induced amnestic psychosis" RELATED [MESH:D000425] synonym: "alcohol-induced amnestic syndrome" RELATED [MESH:D000425] synonym: "alcohol-induced amnestic syndromes" RELATED [MESH:D000425] synonym: "alcohol-induced Dysmnesic psychoses" RELATED [MESH:D000425] synonym: "alcohol-induced Dysmnesic psychosis" RELATED [MESH:D000425] synonym: "alcohol-induced Dysmnesic syndrome" RELATED [MESH:D000425] synonym: "alcohol-induced Dysmnesic syndromes" RELATED [MESH:D000425] synonym: "alcohol-induced Korsakoff syndrome" RELATED [MESH:D000425] synonym: "alcohol-induced Korsakoff syndromes" RELATED [MESH:D000425] synonym: "alcohol-induced persisting amnestic disorder" RELATED [MESH:D000425] synonym: "alcoholic Korsakoff syndrome" RELATED [MESH:D000425] synonym: "alcoholic Korsakoff syndromes" RELATED [MESH:D000425] synonym: "amnestic disorder, alcohol" RELATED [MESH:D000425] synonym: "amnestic disorders, alcohol" RELATED [MESH:D000425] synonym: "amnestic psychoses, alcohol-induced" RELATED [MESH:D000425] synonym: "amnestic psychosis, alcohol induced" RELATED [MESH:D000425] synonym: "amnestic psychosis, alcohol-induced" RELATED [MESH:D000425] synonym: "amnestic syndrome, alcohol" RELATED [MESH:D000425] synonym: "amnestic syndrome, alcohol-induced" RELATED [MESH:D000425] synonym: "amnestic syndromes, alcohol" RELATED [MESH:D000425] synonym: "amnestic syndromes, alcohol-induced" RELATED [MESH:D000425] synonym: "Dysmnesic psychoses, alcohol-induced" RELATED [MESH:D000425] synonym: "Dysmnesic psychosis, alcohol-induced" RELATED [MESH:D000425] synonym: "Dysmnesic syndrome, alcohol-induced" RELATED [MESH:D000425] synonym: "Dysmnesic syndromes, alcohol-induced" RELATED [MESH:D000425] synonym: "Korsakoff syndrome, alcohol-induced" RELATED [MESH:D000425] synonym: "Korsakoff syndrome, alcoholic" RELATED [MESH:D000425] synonym: "Korsakoff syndromes, alcohol-induced" RELATED [MESH:D000425] synonym: "Korsakoff syndromes, alcoholic" RELATED [MESH:D000425] synonym: "psychoses, alcohol-induced amnestic" RELATED [MESH:D000425] synonym: "psychoses, alcohol-induced Dysmnesic" RELATED [MESH:D000425] synonym: "psychosis, alcohol-induced amnestic" RELATED [MESH:D000425] synonym: "psychosis, alcohol-induced Dysmnesic" RELATED [MESH:D000425] synonym: "syndrome, alcohol amnestic" RELATED [MESH:D000425] synonym: "syndrome, alcohol-induced amnestic" RELATED [MESH:D000425] synonym: "syndrome, alcohol-induced Dysmnesic" RELATED [MESH:D000425] synonym: "syndrome, alcohol-induced Korsakoff" RELATED [MESH:D000425] synonym: "syndrome, alcoholic Korsakoff" RELATED [MESH:D000425] synonym: "syndromes, alcohol amnestic" RELATED [MESH:D000425] synonym: "syndromes, alcohol-induced amnestic" RELATED [MESH:D000425] synonym: "syndromes, alcohol-induced Dysmnesic" RELATED [MESH:D000425] synonym: "syndromes, alcohol-induced Korsakoff" RELATED [MESH:D000425] synonym: "syndromes, alcoholic Korsakoff" RELATED [MESH:D000425] xref: MESH:D000425 {source="MONDO:equivalentTo"} xref: MeSH:D000425 xref: MONDO:0021702 xref: SCTID:73097000 {source="MONDO:equivalentTo"} xref: SNOMEDCT:73097000 is_a: MONDO:0001152 {source="MONDO:Redundant", source="MONDO:cjm"} ! amnestic disorder is_a: MONDO:0021698 {source="MESH:D000425", source="MESH:D000425/inferred"} ! alcohol-related disorders property_value: exactMatch http://identifiers.org/mesh/D000425 property_value: exactMatch http://identifiers.org/snomedct/73097000 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001760 name: aneurysmal bone cyst def: "A locally aggressive and destructive benign cystic lesion of the bone. It is characterized by the formation of multiloculated hemorrhagic cystic spaces which are separated by fibrous septa. It can arise from any bone, but usually affects the metaphysis of long bones. It manifests with pain and swelling and may recur following curettage." [NCIT:C3516] def: "Fibrous blood-filled cyst in the bone. Although benign it can be destructive causing deformity and fractures." [] subset: gard_rare {source="GARD:0008646"} subset: ordo_disease {source="Orphanet:480553"} synonym: "ABC" EXACT ABBREVIATION [NCIT:C3516] synonym: "aneurysmal bone cyst" EXACT [] {comment="preferred label from MONDO"} synonym: "aneurysmal bone cyst" EXACT [MONDO:ambiguous] synonym: "aneurysmal bone cyst (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "aneurysmal bone cysts" EXACT [OMIM:606179] synonym: "aneurysmal cyst of bone" EXACT [NCIT:C3516] synonym: "aneurysmal cyst of the bone" EXACT [NCIT:C3516] synonym: "Bone Cysts, Aneurysmal" EXACT [] xref: HP:0012063 {source="MONDO:otherHierarchy"} xref: ICD10:M85.5 xref: ICD9:733.22 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10002362 xref: MESH:D017824 {source="MONDO:equivalentTo"} xref: MeSH:D017824 xref: MONDO:0018815 xref: NCIT:C3516 {source="MONDO:equivalentTo"} xref: NCIt:C3516 xref: OMIM:606179 {source="MONDO:equivalentTo"} xref: Orphanet:480553 {source="MONDO:equivalentTo"} xref: SCTID:203468000 {source="MONDO:equivalentTo"} xref: SNOMEDCT:76000001 is_a: EFO:0003820 {source="Orphanet:480553"} ! bone neoplasm is_a: MONDO:0023603 ! hereditary disorder of connective tissue property_value: exactMatch http://identifiers.org/mesh/D017824 property_value: exactMatch http://identifiers.org/snomedct/203468000 property_value: exactMatch https://omim.org/entry/606179 property_value: exactMatch NCIT:C3516 property_value: exactMatch Orphanet:480553 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000589 "aneurysmal bone cyst (disease)" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8646/aneurysmal-bone-cysts xsd:anyURI {source="GARD:0008646"} [Term] id: EFO:1001761 name: Angiofibroma def: "A benign neoplasm of fibrous tissue in which there are numerous small and large, frequently dilated, vascular channels. (Stedman, 25th ed)" [] xref: MedDRA:10002429 xref: MeSH:D018322 xref: NCIt:C3799 xref: SNOMEDCT:60392001 is_a: EFO:0002424 ! fibroma property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001762 name: autonomic dysreflexia def: "A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60)" [] xref: ICD10:G90.4 xref: ICD9:337.3 xref: MedDRA:10068196 xref: MeSH:D020211 xref: SNOMEDCT:129618003 is_a: EFO:0004149 ! neuropathy is_a: EFO:0009532 ! autonomic nervous system disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001763 name: basal cell neoplasm def: "A neoplastic proliferation of basal cells in the epidermis (part of the skin) or other anatomic sites (most frequently the salivary glands). The basal cell neoplastic proliferation in the epidermis results in basal cell carcinomas. The basal cell neoplastic proliferation in the salivary glands can be benign, resulting in basal cell adenomas or malignant, resulting in basal cell adenocarcinomas." [NCIT:C3784] synonym: "basal cell neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "basal cell neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "basal cell tumor" EXACT [NCIT:C3784] synonym: "basal cell tumour" EXACT OMO:0003005 [] synonym: "neoplasm, basal cell" RELATED [MESH:D018295] xref: ICDO:8090/1 {source="NCIT:C3784"} xref: MESH:D018295 {source="MONDO:equivalentTo"} xref: MONDO:0020799 xref: NCIT:C3784 {source="MONDO:equivalentTo"} xref: SCTID:127570002 {source="MONDO:equivalentTo"} is_a: EFO:0006858 {source="MESH:D018295", source="NCIT:C3784"} ! epithelial neoplasm relationship: EFO:0000784 CL:0000646 ! has_disease_location basal cell property_value: exactMatch http://identifiers.org/mesh/D018295 property_value: exactMatch http://identifiers.org/mesh/D018295 property_value: exactMatch http://identifiers.org/snomedct/127570002 property_value: exactMatch http://identifiers.org/snomedct/127570002 property_value: exactMatch NCIT:C3784 property_value: exactMatch NCIT:C3784 [Term] id: EFO:1001764 name: Birnaviridae Infections def: "Virus diseases caused by the BIRNAVIRIDAE." [] xref: MeSH:D018175 is_a: EFO:0000763 ! viral disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001765 name: Bovine mastitis def: "INFLAMMATION of the UDDER in cows." [] synonym: "Mastitis, Bovine" EXACT [] xref: MeSH:D008414 is_a: EFO:0005932 ! animal disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001766 name: brain hypoxia def: "A reduction in brain oxygen supply due to ANOXEMIA (a reduced amount of oxygen being carried in the blood by HEMOGLOBIN), or to a restriction of the blood supply to the brain, or both. Severe hypoxia is referred to as anoxia, and is a relatively common cause of injury to the central nervous system. Prolonged brain anoxia may lead to BRAIN DEATH or a PERSISTENT VEGETATIVE STATE. Histologically, this condition is characterized by neuronal loss which is most prominent in the HIPPOCAMPUS; GLOBUS PALLIDUS; CEREBELLUM; and inferior olives." [] synonym: "hypoxia of brain" EXACT [] synonym: "Hypoxia, Brain" EXACT [] xref: MedDRA:10006127 xref: MeSH:D002534 xref: SNOMEDCT:389088001 is_a: EFO:0009444 ! hypoxia property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001767 name: brain stem neoplasm def: "A neoplasm (disease) that involves the brainstem." [MONDO:patterns/location] def: "Benign and malignant intra-axial tumors of the MESENCEPHALON; PONS; or MEDULLA OBLONGATA of the BRAIN STEM. Primary and metastatic neoplasms may occur in this location. Clinical features include ATAXIA, cranial neuropathies (see CRANIAL NERVE DISEASES), NAUSEA, hemiparesis (see HEMIPLEGIA), and quadriparesis. Primary brain stem neoplasms are more frequent in children. Histologic subtypes include GLIOMA; HEMANGIOBLASTOMA; GANGLIOGLIOMA; and EPENDYMOMA." [] synonym: "Brain stem neoplasm" EXACT [NCIT:C4869] synonym: "Brain Stem Neoplasms" EXACT [] synonym: "brain stem tumor" EXACT [NCIT:C4869] synonym: "brain stem tumour" EXACT OMO:0003005 [] synonym: "brainstem neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "brainstem neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "brainstem tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4869] synonym: "brainstem tumour" EXACT OMO:0003005 [] synonym: "neoplasm of brain stem" EXACT [NCIT:C4869] synonym: "neoplasm of brainstem" EXACT [MONDO:patterns/neoplasm, NCIT:C4869] synonym: "neoplasm of the brain stem" EXACT [NCIT:C4869] synonym: "neoplasm of the brainstem" EXACT [NCIT:C4869] synonym: "tumor of brain stem" EXACT [NCIT:C4869] synonym: "tumor of brainstem" EXACT [MONDO:patterns/neoplasm, NCIT:C4869] synonym: "tumor of the brain stem" EXACT [NCIT:C4869] synonym: "tumor of the brainstem" EXACT [NCIT:C4869] synonym: "tumour of brain stem" EXACT OMO:0003005 [] synonym: "tumour of brainstem" EXACT OMO:0003005 [] synonym: "tumour of the brain stem" EXACT OMO:0003005 [] synonym: "tumour of the brainstem" EXACT OMO:0003005 [] xref: MeSH:D020295 xref: MONDO:0021228 xref: NCIT:C4869 {source="MONDO:equivalentTo"} xref: NCIt:C4869 xref: Orphanet:36414 {source="MONDO:equivalentObsolete"} xref: SNOMEDCT:126961004 is_a: EFO:0003833 {source="MONDO:Redundant", source="NCIT:C4869/inferred"} ! brain neoplasm property_value: exactMatch NCIT:C4869 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001768 name: cadmium poisoning def: "Poisoning occurring after exposure to cadmium compounds or fumes. It may cause gastrointestinal syndromes, anemia, or pneumonitis." [] xref: MedDRA:10079961 xref: MeSH:D002105 xref: SNOMEDCT:3398004 is_a: EFO:1001518 ! heavy metal poisoning property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001769 name: carcinoid heart disease def: "Cardiac manifestation of gastrointestinal CARCINOID TUMOR that metastasizes to the liver. Substances secreted by the tumor cells, including SEROTONIN, promote fibrous plaque formation in ENDOCARDIUM and its underlying layers. These deposits cause distortion of the TRICUSPID VALVE and the PULMONARY VALVE eventually leading to STENOSIS and valve regurgitation." [] xref: MedDRA:10069010 xref: MeSH:D002275 xref: SNOMEDCT:36222008 is_a: EFO:0003777 ! heart disease is_a: EFO:0004243 ! carcinoid tumor property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001770 name: Carcinoma, Lewis Lung def: "A carcinoma discovered by Dr. Margaret R. Lewis of the Wistar Institute in 1951. This tumor originated spontaneously as a carcinoma of the lung of a C57BL mouse. The tumor does not appear to be grossly hemorrhagic and the majority of the tumor tissue is a semifirm homogeneous mass. (From Cancer Chemother Rep 2 1972 Nov;(3)1:325) It is also called 3LL and LLC and is used as a transplantable malignancy." [] synonym: "Lewis lung carcinoma" EXACT [] xref: MeSH:D018827 is_a: EFO:0001071 ! lung carcinoma property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001771 name: cardiac edema def: "Abnormal fluid retention by the body due to impaired cardiac function or heart failure. It is usually characterized by increase in venous and capillary pressure, and swollen legs when standing. It is different from the generalized edema caused by renal dysfunction (NEPHROTIC SYNDROME)." [] synonym: "Edema, Cardiac" EXACT [] xref: MeSH:D004489 xref: SNOMEDCT:89555002 is_a: EFO:0003777 ! heart disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001772 name: Central Cord Syndrome def: "A syndrome associated with traumatic injury to the cervical or upper thoracic regions of the spinal cord characterized by weakness in the arms with relative sparing of the legs and variable sensory loss. This condition is associated with ischemia, hemorrhage, or necrosis involving the central portions of the spinal cord. Corticospinal fibers destined for the legs are spared due to their more external location in the spinal cord. This clinical pattern may emerge during recovery from spinal shock. Deficits may be transient or permanent." [] xref: MedDRA:10054839 xref: MeSH:D020210 xref: SNOMEDCT:282787000 is_a: EFO:0000546 ! injury is_a: EFO:0000618 ! nervous system disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001773 name: Central Nervous System Helminthiasis def: "Infections of the BRAIN; SPINAL CORD; or MENINGES caused by HELMINTHS (parasitic worms)." [] xref: MeSH:D020809 is_a: EFO:1001342 ! Helminthiasis property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001774 name: central nervous system venous angioma def: "A vascular anomaly characterized by a radial or wedge-shaped arrangement of dilated VEINS draining into a larger vein in the brain, spinal cord, or the meninges. Veins in a venous angioma are surrounded by normal nervous tissue, unlike a CENTRAL NERVOUS SYSTEM CAVERNOUS HEMANGIOMA that lacks intervening nervous tissue. Drainage of venous angioma is fully integrated with the body's venous system, therefore, in most cases there is no clinical signs and rare bleeding." [] synonym: "thrombophlebitis of central nervous system venous sinuses" EXACT [] synonym: "venous angioma, central nervous system" EXACT [] xref: MeSH:D020787 xref: SNOMEDCT:192769002 is_a: EFO:0004264 ! vascular disease is_a: EFO:0009386 ! central nervous system disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001775 name: cerebrospinal fluid otorrhea def: "Discharge of cerebrospinal fluid through the external auditory meatus or through the eustachian tube into the nasopharynx. This is usually associated with CRANIOCEREBRAL TRAUMA (e.g., SKULL FRACTURE involving the TEMPORAL BONE;), NEUROSURGICAL PROCEDURES; or other conditions, but may rarely occur spontaneously. (From Am J Otol 1995 Nov;16(6):765-71)" [] xref: ICD9:388.61 xref: MedDRA:10008171 xref: MeSH:D002558 xref: NCIt:C34461 xref: SNOMEDCT:68382005 is_a: EFO:0000618 ! nervous system disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001776 name: Chilaiditi Syndrome def: "Interposition of a portion of the colon (e.g., SIGMOID COLON) between the liver and the diaphragm. It is associated with abdominal pain, vomiting, constipation, anorexia and volvulus. Chilaiditi anomaly refers to asymptomatic interposition." [] xref: MeSH:D059269 is_a: EFO:0000405 ! digestive system disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001777 name: chloracne def: "ACNE-like skin eruptions caused by exposure to CHLORINE-containing compounds. Exposure can be by inhalation, ingestion, or through the skin. Chloracne is often seen in people who have occupational contact with chlorinated pesticides, wood preservatives, and sealants." [] synonym: "chlorine acne" EXACT [] xref: MedDRA:10008571 xref: MeSH:D054506 xref: SNOMEDCT:83684005 is_a: EFO:0000701 ! skin disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001778 name: chromosome-defective micronuclei def: "Defective nuclei produced during the TELOPHASE of MITOSIS or MEIOSIS by lagging CHROMOSOMES or chromosome fragments derived from spontaneous or experimentally induced chromosomal structural changes." [] synonym: "Micronuclei, Chromosome-Defective" EXACT [] xref: MeSH:D048629 is_a: EFO:0000508 ! genetic disorder property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001779 name: chronic myelomonocytic leukemia def: "A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement." [NCIT:C3178] subset: ordo_disease {source="Orphanet:98823"} synonym: "chronic myelomonocytic leukaemia (CMML)" EXACT OMO:0003005 [] synonym: "chronic myelomonocytic leukemia" EXACT [] {comment="preferred label from MONDO"} synonym: "chronic myelomonocytic leukemia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "chronic myelomonocytic leukemia" EXACT [NCIT:C3178] synonym: "chronic myelomonocytic leukemia (CMML)" EXACT [NCIT:C3178] synonym: "CMML" EXACT ABBREVIATION [NCIT:C3178, Orphanet:98823] synonym: "CMML" EXACT ABBREVIATION [NCIT:C3178, OMIM:607785, Orphanet:98823] xref: DOID:0080188 {source="MONDO:equivalentTo"} xref: GARD:0008225 {source="MONDO:equivalentTo"} xref: ICD10:C93.1 {source="ORDO:98823/e", source="Orphanet:98823"} xref: ICDO:9945/3 {source="NCIT:C3178"} xref: MedDRA:10009018 {source="Orphanet:98823", source="Orphanet:98823/e"} xref: MedDRA:10009018 {source="ORDO:98823/e", source="Orphanet:98823"} xref: MESH:D015477 {source="MONDO:equivalentTo", source="Orphanet:98823", source="Orphanet:98823/e"} xref: MESH:D015477 {source="ORDO:98823/e", source="MONDO:equivalentTo", source="Orphanet:98823"} xref: MONDO:0020311 xref: NCIT:C3178 {source="DOID:0080188", source="MONDO:equivalentTo"} xref: ONCOTREE:CMML {source="MONDO:equivalentTo"} xref: Orphanet:98823 {source="MONDO:equivalentTo"} xref: SCTID:127225006 {source="MONDO:equivalentTo"} xref: UMLS:C0023480 {source="MONDO:equivalentTo", source="NCIT:C3178", source="Orphanet:98823", source="Orphanet:98823/e"} xref: UMLS:C0023480 {source="ORDO:98823/e", source="MONDO:equivalentTo", source="NCIT:C3178", source="Orphanet:98823"} is_a: EFO:1000388 {source="NCIT:C3178", source="ONCOTREE:CMML"} ! Myelodysplastic/Myeloproliferative Neoplasm is_a: MONDO:0001014 {source="DOID:0080188"} ! chronic leukemia is_a: MONDO:0020077 {source="MESH:D015477", source="Orphanet:98823"} ! myelodysplastic/myeloproliferative disease relationship: has_modifier HP:0011010 ! Chronic property_value: closeMatch http://identifiers.org/meddra/10009018 property_value: exactMatch DOID:0080188 property_value: exactMatch DOID:0080188 property_value: exactMatch http://identifiers.org/meddra/10009018 property_value: exactMatch http://identifiers.org/mesh/D015477 property_value: exactMatch http://identifiers.org/mesh/D015477 property_value: exactMatch http://identifiers.org/snomedct/127225006 property_value: exactMatch http://identifiers.org/snomedct/127225006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023480 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023480 property_value: exactMatch NCIT:C3178 property_value: exactMatch NCIT:C3178 property_value: exactMatch Orphanet:98823 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5507 xsd:anyURI [Term] id: EFO:1001780 name: Chylothorax def: "The presence of chyle in the thoracic cavity. (Dorland, 27th ed)" [] xref: MedDRA:10051228 xref: MeSH:D002916 xref: NCIt:C79546 xref: SNOMEDCT:83035003 is_a: EFO:0007352 ! lymphatic system disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001781 name: Commotio Cordis def: "A sudden CARDIAC ARRHYTHMIA (e.g., VENTRICULAR FIBRILLATION) caused by a blunt, non-penetrating impact to the precordial region of chest wall. Commotio cordis often results in sudden death without prompt cardiopulmonary defibrillation." [] xref: MeSH:D056104 is_a: EFO:0004269 ! cardiac arrhythmia property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001782 name: dental pulp exposure def: "The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment." [] synonym: "pulp exposure" EXACT [] xref: MeSH:D003789 is_a: EFO:0009540 ! dental pulp disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001783 name: desmoplastic fibroma def: "A extremely rare bone tumor characterized by abundant collagen formation and a fibrous stroma, without evidence of mitosis or pleomorphism. It appears on x-rays as an osteolytic lesion with well-defined margins and must be differentiated from primary fibrosarcoma of bone. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1441)" [] synonym: "Fibroma, Desmoplastic" EXACT [] xref: MeSH:D018220 xref: NCIt:C3740 xref: SNOMEDCT:6842002 is_a: EFO:0002424 ! fibroma property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001784 name: diffuse cutaneous Leishmaniasis def: "A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement." [] synonym: "Leishmaniasis, diffuse cutaneous" EXACT [] xref: MedDRA:10012811 xref: MeSH:D016774 xref: SNOMEDCT:38573008 is_a: EFO:0005046 ! cutaneous Leishmaniasis property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001785 name: diffuse esophageal spasm def: "A hypermotility disorder of the ESOPHAGUS that is characterized by spastic non-peristaltic responses to SWALLOWING; CHEST PAIN; and DYSPHAGIA." [] synonym: "diffuse spasm of esophagus" EXACT [] synonym: "dyskinesia of esophagus" EXACT [] synonym: "Esophageal Spasm, Diffuse" EXACT [] synonym: "symptomatic diffuse esophageal spasm" EXACT [] xref: ICD10:K22.4 xref: MedDRA:10042751 xref: MeSH:D015155 xref: SNOMEDCT:79962008 is_a: EFO:0009544 ! esophageal disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001786 name: erythroplasia def: "A condition of the mucous membrane characterized by erythematous papular lesions. (Dorland, 27th ed)" [] synonym: "erythroplakia" EXACT [] xref: MedDRA:10063121 xref: MeSH:D004919 xref: SNOMEDCT:71379006 is_a: EFO:0000616 ! neoplasm property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001787 name: experimental arthritis def: "ARTHRITIS that is induced in experimental animals. Immunological methods and infectious agents can be used to develop experimental arthritis models. These methods include injections of stimulators of the immune response, such as an adjuvant (ADJUVANTS, IMMUNOLOGIC) or COLLAGEN." [] synonym: "Arthritis, Experimental" EXACT [] xref: MeSH:D001169 is_a: EFO:0005932 ! animal disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001788 name: Eye Burns def: "Injury to any part of the eye by extreme heat, chemical agents, or ultraviolet radiation." [] xref: MedDRA:10015911 xref: MeSH:D005126 is_a: EFO:0009516 ! burn property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001789 name: familial apolipoprotein B hypobetalipoproteinemia def: "An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption." [] synonym: "Hypobetalipoproteinemia, Familial, Apolipoprotein B" EXACT [] xref: MeSH:D052476 is_a: Orphanet:181431 ! Rare hypolipidemia property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001790 name: female athlete triad syndrome def: "A condition of competitive female athletes in which there are interrelated problems of EATING DISORDERS; AMENORRHEA; and OSTEOPOROSIS." [] synonym: "female athlete triad" EXACT [] synonym: "triad syndrome" EXACT [] xref: MedDRA:10051036 xref: MeSH:D053716 xref: SNOMEDCT:710072005 is_a: EFO:0001379 ! endocrine system disease is_a: EFO:0005203 ! eating disorder property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001791 name: femoral hernia def: "A groin hernia occurring inferior to the inguinal ligament and medial to the FEMORAL VEIN and FEMORAL ARTERY. The femoral hernia sac has a small neck but may enlarge considerably when it enters the subcutaneous tissue of the thigh. It is caused by defects in the ABDOMINAL WALL." [] synonym: "Hernia, Femoral" EXACT [] xref: ICD10:K41 xref: MedDRA:10016434 xref: MedDRA:10016448 xref: MeSH:D006550 xref: NCIt:C34689 xref: SNOMEDCT:50063009 is_a: EFO:0002970 ! muscular disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001792 name: femoral neck fracture def: "Fractures of the short, constricted portion of the thigh bone between the femur head and the trochanters. It excludes intertrochanteric fractures which are HIP FRACTURES." [] synonym: "Femoral Neck Fractures" EXACT [] synonym: "fracture of neck of femur" EXACT [] xref: MedDRA:10016450 xref: MeSH:D005265 xref: SNOMEDCT:5913000 is_a: EFO:0009512 ! lower extremity fracture property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001793 name: fetal hypoxia def: "Deficient oxygenation of FETAL BLOOD." [] synonym: "embryo hypoxia" EXACT [] synonym: "embryo/fetus hyposia" EXACT [] synonym: "fetus/embryo hypoxia" EXACT [] synonym: "intrauterine hypoxia" EXACT [] xref: ICD10:P20 xref: MeSH:D005311 xref: NCIt:C50564 xref: SNOMEDCT:276638004 xref: Wikipedia:Intrauterine_hypoxia is_a: EFO:0009444 ! hypoxia property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001794 name: fetomaternal transfusion def: "Transplacental passage of fetal blood into the circulation of the maternal organism. (Dorland, 27th ed)" [] synonym: "fetal maternal hemorrhage" EXACT [] synonym: "fetal-maternal hemorrhage" EXACT [] synonym: "fetomaternal hemorrhage" EXACT [] synonym: "fetomaternal placental transfusion syndrome" EXACT [] xref: ICD10:O43.01 xref: MeSH:D005331 xref: SNOMEDCT:71028008 is_a: EFO:0007441 ! placenta disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001795 name: fusariosis def: "Fusariosis describes a superficial, locally invasive, disseminated infection with the pathogenic fungus species, Fusarium, often found in soil and water, which is mainly transmitted to humans through traumatic inoculation and that manifests with keratitis, onychomycosis and less frequently peritonitis and cellulitis. In the immunocompromised, disseminated fusariosis is more common and it manifests with refractory fever, skin lesions (ecthyma-like, target, and multiple subcutaneous nodules), severe myalgias and sino-pulmonary infections." [Orphanet:228119] def: "OPPORTUNISTIC INFECTIONS with the soil fungus FUSARIUM. Typically the infection is limited to the nail plate (ONYCHOMYCOSIS). The infection can however become systemic especially in an IMMUNOCOMPROMISED HOST (e.g., NEUTROPENIA) and results in cutaneous and subcutaneous lesions, fever, KERATITIS, and pulmonary infections." [] subset: ordo_disease {source="Orphanet:228119"} synonym: "fusariosis" EXACT [] {comment="preferred label from MONDO"} synonym: "Fusarium caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Fusarium disease or disorder" EXACT [] synonym: "Fusarium infection" EXACT [Orphanet:228119] synonym: "Fusarium infectious disease" EXACT [] xref: DOID:0050289 {source="MONDO:equivalentTo"} xref: MedDRA:10051919 {source="Orphanet:228119", source="Orphanet:228119/e"} xref: MESH:D060585 {source="MONDO:equivalentTo"} xref: MeSH:D060585 xref: MONDO:0016426 xref: ORDO:Orphanet_228119 xref: Orphanet:228119 {source="MONDO:equivalentTo"} xref: SCTID:64250002 {source="MONDO:equivalentTo"} is_a: MONDO:0002312 {source="DOID:0050289"} ! opportunistic mycosis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015578"} ! rare property_value: closeMatch http://identifiers.org/meddra/10051919 property_value: exactMatch DOID:0050289 property_value: exactMatch http://identifiers.org/mesh/D060585 property_value: exactMatch http://identifiers.org/snomedct/64250002 property_value: exactMatch Orphanet:228119 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001796 name: Glomus Jugulare Tumor def: "A paraganglioma involving the glomus jugulare, a microscopic collection of chemoreceptor tissue in the adventitia of the bulb of the jugular vein. It may cause paralysis of the vocal cords, attacks of dizziness, blackouts, and nystagmus. It is not resectable but radiation therapy is effective. It regresses slowly, but permanent control is regularly achieved. (From Dorland, 27th ed; Stedman, 25th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, pp1603-4)" [] xref: MedDRA:10056573 xref: MeSH:D005925 xref: SNOMEDCT:32037004 is_a: EFO:0000616 ! neoplasm property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001797 name: Hemoglobin SC Disease def: "One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin C. It is similar to, but less severe than sickle cell anemia." [] xref: MedDRA:10055608 xref: MeSH:D006450 is_a: Orphanet:183651 ! Rare constitutional anemia property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001798 name: immunoproliferative small intestinal disease def: "A condition that is caused by HYPERPLASIA of LYMPHOCYTES in the small intestine (INTESTINE, SMALL) and the mesenteric LYMPH NODES. These lymphocytes produce an anomalous alpha heavy chain protein. Generally, these IPSID patients have either concurrent LYMPHOMA or develop lymphoma within a few years. The disease was first described in the Mediterranean region and is characterized by malabsorption; WEIGHT LOSS; DIARRHEA; and STEATORRHEA." [] synonym: "alpha heavy chain disease" EXACT [] xref: ICD10:C88.3 xref: MeSH:D007161 xref: NCIt:C3132 xref: SNOMEDCT:27461004 is_a: EFO:0000536 ! hyperplasia is_a: EFO:0010282 ! gastrointestinal disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001799 name: incomplete abortion def: "Premature loss of PREGNANCY in which not all the products of CONCEPTION have been expelled." [] synonym: "Abortion, Incomplete" EXACT [] xref: MedDRA:10021634 xref: MeSH:D000027 xref: NCIt:C50608 is_a: EFO:1001491 ! abortion property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001800 name: Intervertebral Disc Displacement def: "An INTERVERTEBRAL DISC in which the nucleus pulposus has protruded through surrounding fibrocartilage. This occurs most frequently in the lower lumbar region." [] synonym: "displacement of intervertebral disc" EXACT [] xref: MedDRA:10022636 xref: MeSH:D007405 is_a: EFO:0009477 ! vertebral joint disease relationship: EFO:0000784 UBERON:0001066 ! has_disease_location intervertebral disk property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001801 name: intracranial subdural hematoma def: "Accumulation of blood in the SUBDURAL SPACE over the CEREBRAL HEMISPHERE." [] synonym: "Hematoma, Subdural, Intracranial" EXACT [] synonym: "intracranial hematoma, subdural" EXACT [] synonym: "subdural hematoma" EXACT [] synonym: "subdural intracranial hematoma" EXACT [] xref: MedDRA:10055374 xref: MeSH:D046648 xref: NCIt:C116585 xref: SNOMEDCT:95453001 is_a: EFO:0003763 ! cerebrovascular disorder property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001802 name: isolated noncompaction of the ventricular myocardium def: "Rare congenital cardiomyopathies characterized by the lack of left ventricular myocardium compaction. The noncompaction results in numerous prominent trabeculations and a loose myocardial meshwork (spongy myocardium) in the LEFT VENTRICLE. Heterogeneous clinical features include diminished systolic function sometimes associated with left ventricular dilation, that presents either neonatally or progressively. Often, the RIGHT VENTRICLE is also affected. CONGESTIVE HEART FAILURE; PULMONARY EMBOLISM; and ventricular ARRHYTHMIA are commonly seen." [] synonym: "Isolated Noncompaction of the Ventricular Myocardium" EXACT [] xref: MeSH:D056830 is_a: EFO:0002945 ! familial cardiomyopathy property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001803 name: lingual thyroid def: "A condition characterized by the presence of rudimentary THYROID tissue at the base of the TONGUE. It is due to failed embryonic development and migration of thyroid tissue to its normal location. The lingual thyroid usually cannot maintain adequate hormone production thereby resulting in HYPOTHYROIDISM." [] xref: MedDRA:10069122 xref: MeSH:D046151 xref: SNOMEDCT:21279007 is_a: EFO:0000405 ! digestive system disease is_a: EFO:1000627 ! thyroid disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001804 name: Livedo reticularis def: "A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming." [] xref: MedDRA:10024648 xref: MeSH:D054068 xref: NCIt:C74524 xref: SNOMEDCT:238772004 is_a: EFO:0000701 ! skin disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001805 name: lobomycosis def: "A chronic, fungal, subcutaneous infection endemic in rural regions in South America and Central America. The causal organism is Lacazia labol." [MESH:D060368] synonym: "cutaneous blastomycosis" RELATED [DOID:13026] synonym: "cutaneous lobomycosis" EXACT [DOID:13026] synonym: "infection by Loboa loboi" EXACT [DOID:13026] synonym: "lobomycosis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:13026 {source="MONDO:equivalentTo"} xref: ICD10:B48.0 xref: ICD10CM:B48.0 {source="MONDO:equivalentTo", source="DOID:13026"} xref: ICD9:116.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13026"} xref: MedDRA:10024743 xref: MESH:D060368 {source="MONDO:equivalentTo", source="DOID:13026"} xref: MeSH:D060368 xref: MONDO:0001616 xref: SCTID:47306003 {source="MONDO:equivalentTo", source="DOID:13026"} xref: SNOMEDCT:47306003 xref: UMLS:C0152066 {source="MONDO:equivalentTo", source="DOID:13026"} is_a: MONDO:0002040 {source="DOID:13026", source="MESH:D060368"} ! dermatomycosis property_value: exactMatch DOID:13026 property_value: exactMatch http://identifiers.org/mesh/D060368 property_value: exactMatch http://identifiers.org/snomedct/47306003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152066 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B48.0 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001806 name: macrophage activation syndrome def: "A complication of rheumatic disease that is caused by excessive activation and uncontrolled proliferation of T lymphocytes and well-differentiated macrophages. It is characterized by fever, pancytopenia, liver insufficiency, coagulopathy and neurologic symptoms." [NCIT:P378] def: "A serious complication of childhood systemic inflammatory disorders that is thought to be caused by excessive activation and proliferation of T-LYMPHOCYTES and MACROPHAGES. It is seen predominantly in children with systemic onset JUVENILE IDIOPATHIC ARTHRITIS." [] subset: gard_rare {source="GARD:0012124"} subset: ordo_clinical_syndrome {source="Orphanet:158061"} synonym: "macrophage activation syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "MAS" EXACT ABBREVIATION [NCIT:C114471] synonym: "reactive hemophagocytic lymphohistiocytosis" EXACT [NCIT:C114471] xref: MedDRA:10053867 {source="Orphanet:158061", source="Orphanet:158061/e"} xref: MESH:D055501 {source="MONDO:equivalentTo", source="Orphanet:158061", source="Orphanet:158061/e"} xref: MeSH:D055501 xref: MONDO:0015545 xref: NCIT:C114471 {source="MONDO:equivalentTo"} xref: NCIt:C114471 xref: ORDO:Orphanet_158061 xref: Orphanet:158061 {source="MONDO:equivalentTo"} xref: SCTID:430478003 {source="MONDO:equivalentTo"} xref: SNOMEDCT:430478003 xref: UMLS:C1096155 {source="NCIT:C114471", source="MONDO:equivalentTo", source="Orphanet:158061", source="Orphanet:158061/e"} is_a: MONDO:0015542 {source="Orphanet:158061", source="https://orcid.org/0000-0001-5208-3432"} ! secondary hemophagocytic lymphohistiocytosis property_value: closeMatch http://identifiers.org/meddra/10053867 property_value: exactMatch http://identifiers.org/mesh/D055501 property_value: exactMatch http://identifiers.org/snomedct/430478003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1096155 property_value: exactMatch NCIT:C114471 property_value: exactMatch Orphanet:158061 property_value: excluded_subClassOf MONDO:0002254 {source="NCIT:C114471"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12124/macrophage-activation-syndrome xsd:anyURI {source="GARD:0012124"} [Term] id: EFO:1001807 name: malacoplakia def: "Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body." [Orphanet:556] def: "The formation of soft patches on the mucous membrane of a hollow organ, such as the urogenital tract or digestive tract." [] subset: gard_rare {source="GARD:0006960"} subset: ordo_disease {source="Orphanet:556"} synonym: "malacoplakia" RELATED [GARD:0006960] synonym: "malakoplakia" EXACT [] {comment="preferred label from MONDO"} xref: MedDRA:10058484 xref: MedDRA:10080344 xref: MESH:D008287 {source="MONDO:equivalentTo"} xref: MeSH:D008287 xref: MONDO:0018913 xref: NCIT:C84833 {source="MONDO:equivalentTo"} xref: Orphanet:556 {source="MONDO:equivalentTo"} xref: SCTID:716766007 {source="MONDO:equivalentTo"} xref: SNOMEDCT:50707001 is_a: EFO:0005140 ! autoimmune disease is_a: EFO:0009431 {source="Orphanet:556"} ! intestinal disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015245"} ! rare property_value: exactMatch http://identifiers.org/mesh/D008287 property_value: exactMatch http://identifiers.org/snomedct/716766007 property_value: exactMatch NCIT:C84833 property_value: exactMatch Orphanet:556 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6960/malakoplakia xsd:anyURI {source="GARD:0006960"} [Term] id: EFO:1001808 name: manganese poisoning def: "Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include CONFUSION; HALLUCINATIONS; and an extrapyramidal syndrome (PARKINSON DISEASE, SECONDARY) that includes rigidity; DYSTONIA; retropulsion; and TREMOR. (Adams, Principles of Neurology, 6th ed, p1213)" [] def: "Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include confusion; hallucinations; and an extrapyramidal syndrome (parkinson disease, secondary) that includes rigidity; dystonia; retropulsion; and tremor. (Adams, Principles of Neurology, 6th ed, p1213)" [MESH:D020149] subset: ordo_disease {source="Orphanet:306682"} synonym: "manganese intoxication" EXACT [Orphanet:306682] synonym: "manganese poisoning" EXACT [] {comment="preferred label from MONDO"} synonym: "Manganism" EXACT [Orphanet:306682] xref: ICD9:503 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10058951 {source="Orphanet:306682", source="Orphanet:306682/e"} xref: MESH:D020149 {source="MONDO:equivalentTo"} xref: MeSH:D020149 xref: MONDO:0017638 xref: ORDO:Orphanet_306682 xref: Orphanet:306682 {source="MONDO:equivalentTo"} xref: SCTID:88687001 {source="MONDO:equivalentTo"} is_a: EFO:0008546 {source="MONDO:Redundant", source="Orphanet:306682"} ! poisoning is_a: EFO:1001815 ! nervous system heavy metal poisoning relationship: has_characteristic MONDO:0021136 {source="MONDO:0015224"} ! rare property_value: closeMatch http://identifiers.org/meddra/10058951 property_value: exactMatch http://identifiers.org/mesh/D020149 property_value: exactMatch http://identifiers.org/snomedct/88687001 property_value: exactMatch Orphanet:306682 property_value: excluded_subClassOf MONDO:0017637 {source="Orphanet:306682"} property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001809 name: Marchiafava-Bignami Disease def: "A neurodegenerative condition that is characterized by demyelination or necrosis of the CORPUS CALLOSUM. Symptoms include DEPRESSION; PARANOIA; DEMENTIA; SEIZURES; and ATAXIA which can progress to COMA and death in a few months. Marchiafava-Bignami syndrome is seen often in alcoholics but has been found in non-alcoholics as well." [] def: "Marchiafava Bignami disease is defined by characteristic demyelination of the corpus callosum (erosion of the protective covering of nerve fibers joining the 2 hemispheres of the brain). The disease seems to most often affect severe and chronic alcoholics in their middle or late adult life. Early symptoms may include depression, paranoia, psychosis, or dementia. Seizures are common, and hemiparesis, aphasia, abnormal movements, and ataxia may sometimesprogress to coma and/or death. The cause of Marchiafava Bignami disease, including the potential role of nutritional deficiency, remains unknown. Improvement and recovery of some individuals has been reported. Treatment focuses on nutritional support and rehabilitation from alcoholism." [https://rarediseases.info.nih.gov/diseases/6971/marchiafava-bignami-disease] subset: gard_rare {source="GARD:0006971"} subset: ordo_disease {source="Orphanet:221074"} synonym: "acute Marchiafava-Bignami disease" NARROW [GARD:0006971] synonym: "chronic Marchiafava-Bignami syndrome" NARROW [GARD:0006971] synonym: "Marchiafava Bignami disease" EXACT [GARD:0006971] synonym: "Marchiafava-Bignami disease" EXACT [] {comment="preferred label from MONDO"} synonym: "MBD" RELATED ABBREVIATION [GARD:0006971] synonym: "metabolic bone disease" EXACT [NCIT:C97045] synonym: "metabolic bone disorder" EXACT [NCIT:C97045] xref: ICD9:341.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10026828 {source="Orphanet:221074/e", source="Orphanet:221074"} xref: MESH:D054319 {source="Orphanet:221074/e", source="MONDO:equivalentTo", source="Orphanet:221074"} xref: MeSH:D054319 xref: MONDO:0016370 xref: NCIT:C97045 {source="MONDO:equivalentTo"} xref: ORDO:Orphanet_221074 xref: Orphanet:221074 {source="MONDO:equivalentTo"} xref: SCTID:386766007 {source="MONDO:equivalentTo"} xref: SNOMEDCT:386766007 xref: UMLS:C0238265 {source="Orphanet:221074/e", source="MONDO:equivalentTo", source="Orphanet:221074"} is_a: EFO:0005772 {source="Orphanet:221074"} ! neurodegenerative disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015918"} ! rare property_value: closeMatch http://identifiers.org/meddra/10026828 property_value: exactMatch http://identifiers.org/mesh/D054319 property_value: exactMatch http://identifiers.org/snomedct/386766007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238265 property_value: exactMatch NCIT:C97045 property_value: exactMatch Orphanet:221074 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6971/marchiafava-bignami-disease xsd:anyURI {source="GARD:0006971"} [Term] id: EFO:1001810 name: mercury poisoning def: "Mercury poisoning is caused mainly through ingestion or inhalation of any of the 3 forms of mercury, elemental, organic, and inorganic. Exposure to elemental mercury affects the pulmonary (inhalation of mercury vapors causes coughing, chills, fever, shortness of breath), dermatological (mild swelling, vesiculation, scaling, irritation, urticaria, erythema and allergic contact dermatitis accompanied by pain), and peripheral and central nervous (CNS) systems (depression, paranoia, extreme irritability, hallucinations, inability to concentrate, memory loss, hands, head, lips, tongue, jaw and eyelids tremors, weight loss, perpetually low body temperature, drowsiness, headaches, insomnia, fatigue). Exposure to inorganic mercury generally causes development of a metallic taste, local oropharyngeal pain, nausea, vomiting, bloody diarrhea, colic abdominal pain, renal dysfunction and, neurologic abnormalities; while that to organic mercury can lead to delayed neurotoxicity." [Orphanet:330021] def: "Neurologic disorders associated with exposure to inorganic and organic forms of MERCURY. Acute intoxication may be associated with gastrointestinal disturbances, mental status changes, and PARAPARESIS. Chronic exposure to inorganic mercury usually occurs in industrial workers, and manifests as mental confusion, prominent behavioral changes (including psychosis), DYSKINESIAS, and NEURITIS. Alkyl mercury poisoning may occur through ingestion of contaminated seafood or grain, and its characteristic features include POLYNEUROPATHY; ATAXIA; vision loss; NYSTAGMUS, PATHOLOGIC; and DEAFNESS. (From Joynt, Clinical Neurology, 1997, Ch20, pp10-15)" [] subset: gard_rare {source="GARD:0007021"} subset: ordo_disease {source="Orphanet:330021"} synonym: "hydrargyria" EXACT [Orphanet:330021] synonym: "mercurialism" EXACT [Orphanet:330021] synonym: "Mercury intoxication" EXACT [Orphanet:330021] synonym: "mercury poisoning" EXACT [] {comment="preferred label from MONDO"} synonym: "Mercury Poisoning, Nervous System" EXACT [] synonym: "Mercury toxicity" RELATED [GARD:0007021] synonym: "nervous system mercury poisoning" EXACT [] xref: ICD9:985.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10063573 xref: MESH:D008630 {source="MONDO:equivalentTo"} xref: MeSH:D020262 xref: MONDO:0018020 xref: Orphanet:330021 {source="MONDO:equivalentTo"} xref: SCTID:85180002 {source="MONDO:equivalentTo"} is_a: EFO:0008546 {source="Orphanet:330021"} ! poisoning is_a: EFO:1001815 ! nervous system heavy metal poisoning relationship: has_characteristic MONDO:0021136 {source="MONDO:0015224"} ! rare property_value: exactMatch http://identifiers.org/mesh/D008630 property_value: exactMatch http://identifiers.org/snomedct/85180002 property_value: exactMatch Orphanet:330021 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7021/mercury-poisoning xsd:anyURI {source="GARD:0007021"} [Term] id: EFO:1001811 name: Monteggia's fracture def: "Fracture in the proximal half of the shaft of the ulna, with dislocation of the head of the radius." [] synonym: "Monteggia's fracture of ulna" EXACT [] xref: ICD10:S52.27 xref: MeSH:D009011 xref: SNOMEDCT:123973009 is_a: EFO:0003950 ! ulna fracture property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001812 name: myringosclerosis def: "The formation of dense connective tissue in the TYMPANIC MEMBRANE that does not necessarily cause or lead to loss of hearing." [] xref: MeSH:D063371 is_a: EFO:1001455 ! auditory system disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001813 name: Nasal Septal Perforation def: "An opening or hole in the NASAL SEPTUM that is caused by TRAUMA, injury, drug use, or pathological process." [] synonym: "perforation of nasal septum" EXACT [] xref: MeSH:D061270 xref: SNOMEDCT:80142000 is_a: EFO:0000684 ! respiratory system disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001814 name: nephrogenic fibrosing dermopathy def: "A chronic, acquired, idiopathic, progressive eruption of the skin that occurs in the context of RENAL FAILURE. It is sometimes accompanied by systemic fibrosis. The pathogenesis seems to be multifactorial, with postulated involvement of circulating fibrocytes. There is a strong association between this disorder and the use of gadolinium-based contrast agents." [] synonym: "nephrogenic systemic fibrosis" EXACT [] xref: MedDRA:10064499 xref: MeSH:D054989 xref: NCIt:C84920 xref: ORDO:Orphanet_137617 xref: SNOMEDCT:424114000 is_a: EFO:0000701 ! skin disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001815 name: nervous system heavy metal poisoning def: "Conditions associated with damage or dysfunction of the nervous system caused by exposure to heavy metals, which may cause a variety of central, peripheral, or autonomic nervous system injuries." [] synonym: "Heavy Metal Poisoning, Nervous System" EXACT [] xref: MeSH:D020260 is_a: EFO:0000618 ! nervous system disease is_a: EFO:1001518 ! heavy metal poisoning property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001816 name: neutropenic enterocolitis def: "A syndrome characterized by inflammation in the ILEUM, the CECUM, and the ASCENDING COLON. It is observed in cancer patients with CHEMOTHERAPY-induced NEUTROPENIA or in other immunocompromised individuals (IMMUNOCOMPROMISED HOST)." [] synonym: "Enterocolitis, Neutropenic" EXACT [] xref: MedDRA:10029359 xref: MeSH:D044504 is_a: EFO:1001481 ! enterocolitis property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001817 name: ocular posterior capsular rupture def: "A breach in the continuity of the posterior chamber of the eyeball." [] synonym: "Posterior Capsular Rupture, Ocular" EXACT [] xref: MeSH:D057851 is_a: EFO:0003966 ! eye disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001818 name: oral submucous fibrosis def: "Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment." [Orphanet:357154] subset: gard_rare {source="GARD:0007264"} subset: ordo_disease {source="Orphanet:357154"} synonym: "oral cavity submucous fibrosis" EXACT [DOID:5773] synonym: "oral submucosal fibrosis" EXACT [DOID:5773] synonym: "oral submucosal fibrosis, including of tongue" EXACT [DOID:5773, ICD9CM_2006:528.8] synonym: "oral submucosal fibrosis, including of tongue" EXACT [DOID:5773, ICD9CM:528.8] synonym: "oral submucous fibrosis" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "oral submucous fibrosis" EXACT [] {comment="preferred label from MONDO"} synonym: "OSMF" EXACT ABBREVIATION [Orphanet:357154] xref: DOID:5773 {source="MONDO:equivalentTo"} xref: EFO:1001818 {source="MONDO:equivalentTo"} xref: GARD:0007264 {source="MONDO:equivalentTo"} xref: ICD10:K13.5 {source="DOID:5773", source="MONDO:equivalentTo", source="Orphanet:357154", source="ORDO:357154/e"} xref: ICD10CM:K13.5 {source="DOID:5773", source="Orphanet:357154/e", source="MONDO:equivalentTo", source="Orphanet:357154"} xref: ICD9:528.8 {source="DOID:5773", source="MONDO:equivalentTo", source="i2s"} xref: ICD9:528.8 {source="DOID:5773", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D009914 {source="DOID:5773", source="MONDO:equivalentTo"} xref: MONDO:0018166 xref: NCIT:C34866 {source="DOID:5773", source="MONDO:equivalentTo"} xref: Orphanet:357154 {source="MONDO:equivalentTo"} xref: SCTID:32883009 {source="DOID:5773", source="MONDO:equivalentTo"} xref: UMLS:C0029171 {source="DOID:5773", source="MONDO:equivalentTo", source="NCIT:C34866"} xref: UMLS:C0029172 {source="DOID:5773", source="MONDO:equivalentTo", source="Orphanet:357154"} is_a: EFO:1001047 {source="DOID:5773", source="MESH:D009914", source="NCIT:C34866/inferred"} ! mouth disease is_a: MONDO:0023369 {source="MONDO:0019038-obsoleted"} ! disorder of facial skeleton property_value: exactMatch DOID:5773 property_value: exactMatch DOID:5773 property_value: exactMatch http://identifiers.org/mesh/D009914 property_value: exactMatch http://identifiers.org/mesh/D009914 property_value: exactMatch http://identifiers.org/snomedct/32883009 property_value: exactMatch http://identifiers.org/snomedct/32883009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029171 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029171 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029172 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029172 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K13.5 property_value: exactMatch NCIT:C34866 property_value: exactMatch NCIT:C34866 property_value: exactMatch Orphanet:357154 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7264/oral-submucous-fibrosis xsd:anyURI {source="GARD:0007264"} [Term] id: EFO:1001819 name: orbital myositis def: "Inflammation of the extraocular muscle of the eye. It is characterized by swelling which can lead to ischemia, fibrosis, or ORBITAL PSEUDOTUMOR." [] xref: ICD10:H05.12 xref: ICD9:376.12 xref: MedDRA:10031050 xref: MeSH:D055622 xref: NCIt:C117296 xref: SNOMEDCT:80698001 is_a: EFO:0000783 ! myositis is_a: EFO:0003966 ! eye disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001820 name: oroficial granulomatosis def: "A condition characterized by persistent or recurrent labial enlargement, ORAL ULCER, and other orofacial manifestations in the absence of identifiable CROHN DISEASE; or SARCOIDOSIS. Among experts there is disagreement on whether orofacial granulomatosis is a distinct clinical disorder or an initial presentation of Crohn disease." [] synonym: "Granulomatosis, Orofacial" EXACT [] xref: MeSH:D051261 is_a: EFO:0005140 ! autoimmune disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001821 name: osteoradionecrosis def: "Necrosis of bone following radiation injury." [] xref: MedDRA:10067352 xref: MeSH:D010025 xref: NCIt:C63707 xref: SNOMEDCT:109333005 is_a: EFO:0004260 ! bone disease is_a: EFO:0009565 ! radiation-induced disorder property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001822 name: Paroxysmal Hemicrania def: "A primary headache disorder that is similar to the CLUSTER HEADACHE with unilateral head pain, but differs by its multiple short severe attacks. It is usually seen in females, and may be responsive to non-steroidal-anti-inflammatory drugs (NSAIDS)." [] def: "Paroxysmal hemicrania (PH) is a primary headache disorder characterized by multiple attacks of unilateral pain that occur in association with cranial autonomic symptoms. The hallmarks of this syndrome are the relative shortness of the attacks and the complete response to indomethacin therapy." [Orphanet:157835] subset: gard_rare {source="GARD:0010794"} subset: ordo_disease {source="Orphanet:157835"} synonym: "paroxysmal Hemicrania" EXACT [] {comment="preferred label from MONDO"} xref: ICD9:339.03 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10019461 {source="Orphanet:157835", source="Orphanet:157835/e"} xref: MESH:D051302 {source="MONDO:equivalentTo", source="Orphanet:157835", source="Orphanet:157835/e"} xref: MeSH:D051302 xref: MONDO:0015529 xref: ORDO:Orphanet_157835 xref: Orphanet:157835 {source="MONDO:equivalentTo"} xref: SCTID:443094001 {source="MONDO:equivalentTo"} xref: SNOMEDCT:443094001 xref: UMLS:C1399352 {source="MONDO:equivalentTo", source="Orphanet:157835", source="Orphanet:157835/e"} is_a: EFO:0000524 ! head and neck disorder is_a: MONDO:0015530 {source="MESH:D051302", source="Orphanet:157835"} ! trigeminal autonomic cephalalgia property_value: closeMatch http://identifiers.org/meddra/10019461 property_value: exactMatch http://identifiers.org/mesh/D051302 property_value: exactMatch http://identifiers.org/snomedct/443094001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1399352 property_value: exactMatch Orphanet:157835 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10794/paroxysmal-hemicrania xsd:anyURI {source="GARD:0010794"} [Term] id: EFO:1001823 name: Periprosthetic Fractures def: "Fractures around joint replacement prosthetics or implants. They can occur intraoperatively or postoperatively." [] xref: MedDRA:10052306 xref: MeSH:D057068 xref: SNOMEDCT:441546003 is_a: EFO:0003931 ! bone fracture property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001824 name: pinguecula def: "A yellowish thickened lesion on the conjunctiva near the CORNEA representing a benign degenerative change in the CONJUNCTIVA caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the LIMBUS." [] def: "A yellowish thickened lesion on the conjunctiva near the cornea representing a benign degenerative change in the conjunctiva caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the limbus." [MESH:D059407] synonym: "pinguecula" EXACT [] {comment="preferred label from MONDO"} xref: DOID:11029 {source="MONDO:equivalentTo"} xref: ICD10:H11.15 xref: ICD9:372.51 {source="DOID:11029", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10035060 xref: MESH:D059407 {source="DOID:11029", source="MONDO:equivalentTo"} xref: MeSH:D059407 xref: MONDO:0001179 xref: SCTID:87614000 {source="DOID:11029", source="MONDO:equivalentTo"} xref: SNOMEDCT:87614000 xref: UMLS:C0152255 {source="DOID:11029", source="MONDO:equivalentTo"} is_a: MONDO:0000949 {source="DOID:11029"} ! conjunctival degeneration property_value: exactMatch DOID:11029 property_value: exactMatch http://identifiers.org/mesh/D059407 property_value: exactMatch http://identifiers.org/snomedct/87614000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152255 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001825 name: pleurisy def: "INFLAMMATION of PLEURA, the lining of the LUNG. When PARIETAL PLEURA is involved, there is pleuritic CHEST PAIN." [] def: "Inflammation of the pleura. It is usually caused by infections. Chest pain while breathing or coughing is the presenting symptom." [NCIT:C26860] synonym: "inflammation of pleura" EXACT [] synonym: "pleura inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "pleurisy" EXACT [] {comment="preferred label from MONDO"} synonym: "pleuritis" EXACT [NCIT:C26860] xref: DOID:10247 {source="MONDO:equivalentTo"} xref: ICD10:R09.1 xref: ICD10CM:R09.1 {source="MONDO:equivalentTo"} xref: ICD9:511 xref: ICD9:511.8 {source="DOID:10247"} xref: MedDRA:10035618 xref: MESH:D010998 {source="MONDO:equivalentTo"} xref: MeSH:D010998 xref: MONDO:0000986 xref: NCIT:C26860 {source="MONDO:equivalentTo"} xref: SCTID:196075003 {source="MONDO:equivalentTo"} xref: SNOMEDCT:196075003 xref: UMLS:C0032231 {source="NCIT:C26860", source="MONDO:equivalentTo"} is_a: EFO:0003818 ! lung disease is_a: MONDO:0002037 {source="DOID:10247", source="MESH:D010998", source="MONDO:Redundant", source="NCIT:C26860"} ! pleural disorder is_a: MONDO:0043786 ! serositis property_value: exactMatch DOID:10247 property_value: exactMatch http://identifiers.org/mesh/D010998 property_value: exactMatch http://identifiers.org/snomedct/196075003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032231 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/R09.1 property_value: exactMatch NCIT:C26860 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001826 name: Poroma def: "A benign adnexal neoplasm composed of EPITHELIAL CELLS. They typically manifest as solitary papules and occur only in the skin." [] xref: MeSH:D057091 xref: NCIt:C27273 is_a: EFO:0004198 ! skin neoplasm property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001827 name: post-concussion syndrome def: "The organic and psychogenic disturbances observed after closed head injuries (HEAD INJURIES, CLOSED). Post-concussion syndrome includes subjective physical complaints (i.e. headache, dizziness), cognitive, emotional, and behavioral changes. These disturbances can be chronic, permanent, or late emerging." [] synonym: "postconcussion syndrome" EXACT [] xref: MeSH:D038223 xref: SNOMEDCT:40425004 is_a: EFO:0000677 ! mental or behavioural disorder property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001828 name: post-exercise hypotension def: "Transient reduction in blood pressure levels immediately after exercises that lasts 2-12 hours. The reduction varies but is typically 5-20 mm Hg when compared to pre-exercise levels. It exists both in normotensive and hypertensive individuals and may play a role in excercise related PHYSIOLOGIC ADAPTATION." [] synonym: "post exercise hypotension" EXACT [] xref: MeSH:D057774 is_a: EFO:0005251 ! hypotension property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001829 name: Posterior Leukoencephalopathy Syndrome def: "A condition that is characterized by HEADACHE; SEIZURES; and visual loss with edema in the posterior aspects of the CEREBRAL HEMISPHERES, such as the BRAIN STEM. Generally, lesions involve the white matter (nerve fibers) but occasionally the grey matter (nerve cell bodies)." [] synonym: "posterior reversible encephalopathy syndrome" EXACT [] synonym: "PRES" EXACT [] synonym: "reversible posterior leukoencephalopathy syndrome" EXACT [] synonym: "RPLS" EXACT [] xref: MedDRA:10063761 xref: MeSH:D054038 xref: NCIt:C78598 xref: Wikipedia:Posterior_reversible_encephalopathy_syndrome is_a: EFO:0000618 ! nervous system disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001830 name: precursor T-cell lymphoblastic leukemia-lymphoma subset: ordo_disease {source="Orphanet:99861"} synonym: "precursor T-cell acute lymphoblastic leukemia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "precursor T-cell acute lymphoblastic leukemia" EXACT [] {comment="preferred label from MONDO"} synonym: "precursor T-cell acute lymphoblastic leukemia/lymphoma" EXACT [Orphanet:99861] synonym: "precursor T-cell acute lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "precursor T-cell acute lymphocytic leukemia" EXACT [Orphanet:99861] synonym: "precursor T-cell acute lymphocytic leukemia/lymphoma" EXACT [Orphanet:99861] synonym: "T-ALL" BROAD [Orphanet:99861] synonym: "T-ALL" EXACT [Orphanet:99861] xref: ICD10:C91.0 {source="ORDO:99861/ntbt", source="Orphanet:99861"} xref: MONDO:0020512 xref: Orphanet:99861 {source="MONDO:equivalentTo"} is_a: EFO:0000220 {source="Orphanet:99861"} ! acute lymphoblastic leukemia property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1961099 property_value: exactMatch Orphanet:99861 [Term] id: EFO:1001831 name: pseudolymphoma def: "A neoplastic process that resembles a malignant lymphoma, but has a benign course." [NCIT:C3825] synonym: "benign lymphoid hyperplasia" RELATED [] synonym: "hyperplasia, reactive lymphoid" RELATED [MESH:D019310] synonym: "hyperplasias, reactive lymphoid" RELATED [MESH:D019310] synonym: "lymphocytoma" RELATED [MESH:D019310] synonym: "lymphocytomas" RELATED [MESH:D019310] synonym: "lymphoid hyperplasia, reactive" RELATED [MESH:D019310] synonym: "lymphoid Hyperplasias, reactive" RELATED [MESH:D019310] synonym: "pseudolymphoma" EXACT [NCIT:C3825] synonym: "pseudolymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "pseudolymphoma" EXACT [] {comment="preferred label from MONDO"} synonym: "pseudolymphomas" RELATED [MESH:D019310] synonym: "reactive lymphoid hyperplasia" RELATED [MESH:D019310] synonym: "reactive lymphoid Hyperplasias" RELATED [MESH:D019310] xref: EFO:1001414 {source="MONDO:equivalentTo"} xref: MESH:D019310 {source="MONDO:equivalentTo"} xref: MONDO:0043959 xref: NCIT:C3825 {source="MONDO:equivalentTo"} xref: SCTID:19750001 {source="MONDO:equivalentTo"} xref: UMLS:C0221269 {source="NCIT:C3825", source="MONDO:equivalentTo"} is_a: EFO:0007352 {source="MESH:D019310"} ! lymphatic system disease property_value: exactMatch http://identifiers.org/mesh/D019310 property_value: exactMatch http://identifiers.org/mesh/D019310 property_value: exactMatch http://identifiers.org/snomedct/19750001 property_value: exactMatch http://identifiers.org/snomedct/19750001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221269 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221269 property_value: exactMatch NCIT:C3825 property_value: exactMatch NCIT:C3825 [Term] id: EFO:1001832 name: Psoas abscess def: "Abscess of the PSOAS MUSCLES resulting usually from disease of the lumbar vertebrae, with the pus descending into the muscle sheath. The infection is most commonly tuberculous or staphylococcal." [] synonym: "iliopsoas abscess" EXACT [] synonym: "Psoas muscle abscess" EXACT [] xref: ICD10:K68.12 xref: ICD9:567.31 xref: MedDRA:10056517 xref: MeSH:D016659 xref: SNOMEDCT:266463007 is_a: EFO:0003030 ! abscess property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001833 name: Pubic Symphysis Diastasis def: "Separation of the PUBIC SYMPHYSIS. It is an uncommon complication of CHILDBIRTH causing postpartum PAIN, but it can also arise from other causes." [] synonym: "diastasis symphysis pubis" EXACT [] xref: MeSH:D046548 xref: Wikipedia:Diastasis_symphysis_pubis is_a: EFO:0002461 ! skeletal system disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001834 name: pulmonary aspergillosis def: "A aspergillosis that involves the lung." [MONDO:patterns/location] def: "Infections of the respiratory tract with fungi of the genus ASPERGILLUS. Infections may result in allergic reaction (ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS), colonization in pulmonary cavities as fungus balls (MYCETOMA), or lead to invasion of the lung parenchyma (INVASIVE PULMONARY ASPERGILLOSIS)." [] synonym: "lung aspergillosis" EXACT [MONDO:patterns/location] synonym: "pulmonary aspergilloma" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0050153 {source="MONDO:equivalentTo"} xref: MedDRA:10059259 xref: MESH:D055732 {source="MONDO:equivalentTo"} xref: MeSH:D055732 xref: MONDO:0000266 xref: SNOMEDCT:6042001 xref: UMLS:C2350529 {source="MONDO:equivalentTo"} is_a: EFO:0007157 ! aspergillosis is_a: EFO:0007278 ! fungal lung infectious disease property_value: exactMatch DOID:0050153 property_value: exactMatch http://identifiers.org/mesh/D055732 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2350529 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001835 name: pyelocystitis def: "Inflammation of the KIDNEY PELVIS and the URINARY BLADDER." [] synonym: "Cystopyelitis" RELATED [MESH:D053653] synonym: "Pyelocystitis" RELATED [MESH:D053653] synonym: "pyelocystitis" EXACT [] {comment="preferred label from MONDO"} xref: MedDRA:10049100 xref: MedDRA:10049MedDRA\:100 xref: MESH:D053653 {source="UMLS:C0034184", source="MONDO:equivalentTo"} xref: MeSH:D053653 xref: MONDO:0021746 xref: UMLS:C0034184 {source="MONDO:equivalentTo"} is_a: EFO:1000025 {source="MESH:D053653"} ! cystitis is_a: EFO:1001140 {source="MESH:D053653"} ! pyelitis property_value: exactMatch http://identifiers.org/mesh/D053653 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034184 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001836 name: pyogenic liver abscess def: "Single or multiple areas of PUS due to bacterial infection within the hepatic parenchyma. It can be caused by a variety of BACTERIA, local or disseminated from infections elsewhere such as in APPENDICITIS; CHOLECYSTITIS; PERITONITIS; and after LIVER TRANSPLANTATION." [] synonym: "Liver Abscess, Pyogenic" EXACT [] xref: MedDRA:10068844 xref: MeSH:D046290 xref: SNOMEDCT:48036004 is_a: EFO:0000771 ! bacterial disease is_a: EFO:0001421 ! liver disease is_a: EFO:0003030 ! abscess property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001837 name: rectocele def: "Herniation of the RECTUM into the VAGINA." [] synonym: "female rectocele" EXACT [] synonym: "herniation of rectum into vagina" EXACT [] xref: ICD10:N81.6 xref: ICD9:618.04 xref: MedDRA:10038084 xref: MeSH:D020047 xref: SNOMEDCT:447072005 is_a: EFO:0009549 ! female reproductive system disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001838 name: renal nutcracker syndrome def: "A rare, syndromic renal disease characterized by the entrapment of left renal vein (LRV) between the superior mesenteric artery (SMA) and the abdominal aorta, resulting in increased luminal pressure, renal hilar varices, hematuria and, at the microscopic level, rupture of thin-walled veins into the collecting system in renal fornices." [Orphanet:71273] def: "Renal nutcracker syndrome (NCS) is a condition that occurs when the left renal vein (the vein that carries blood purified by the left kidney) becomes compressed between the aorta, abdominal and superior mesenteric artery. The signs and symptoms of the condition can vary from person to person. Some affected people may be asymptomatic while others develop severe and persistent symptoms. When present, features of NCS may include blood in the urine (hematuria), renovascular hypertension, varicose veins, orthostatic proteinuria, flank pain and/or abdominal pain. Some cases of mild NCS in children may be due to changes in body proportions associated with growth. Why NCS occurs or becomes symptomatic in adults is less clear. Treatment ranges from surveillance to surgical intervention and is based on the severity of symptoms and their expected reversibility when considering the affected person's age and stage of the syndrome." [] subset: ordo_disease {source="Orphanet:71273"} synonym: "Left renal vein entrapment syndrome" EXACT [] synonym: "left renal vein entrapment syndrome" EXACT [Orphanet:71273] synonym: "NCS" EXACT [] synonym: "nutcracker syndrome" EXACT [] synonym: "nutcracker syndrome" RELATED [GARD:0011971] synonym: "Renal Nutcracker Phenomenon" EXACT [] synonym: "renal nutcracker syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "RNS" EXACT ABBREVIATION [Orphanet:71273] xref: MESH:D059228 {source="Orphanet:71273", source="MONDO:equivalentTo", source="Orphanet:71273/e"} xref: MeSH:D059228 xref: MONDO:0019105 xref: ORDO:Orphanet_71273 xref: Orphanet:71273 {source="MONDO:equivalentTo"} xref: SCTID:717267005 {source="MONDO:equivalentTo"} xref: UMLS:C3178770 {source="Orphanet:71273", source="MONDO:equivalentTo", source="Orphanet:71273/e"} is_a: EFO:0003086 {source="https://orcid.org/0000-0001-5208-3432"} ! kidney disease is_a: EFO:0004264 ! vascular disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015621"} ! rare property_value: exactMatch http://identifiers.org/mesh/D059228 property_value: exactMatch http://identifiers.org/snomedct/717267005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3178770 property_value: exactMatch Orphanet:71273 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001839 name: respiratory aspiration def: "Inhaling liquid or solids, such as stomach contents, into the RESPIRATORY TRACT. When this causes severe lung damage, it is called ASPIRATION PNEUMONIA." [] synonym: "aspiration into respiratory tract" EXACT [] synonym: "respiratory tract aspiration" EXACT [] xref: MeSH:D053120 xref: NCIt:C83507 xref: SNOMEDCT:413585005 is_a: EFO:0000684 ! respiratory system disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001840 name: respiratory paralysis def: "Complete or severe weakness of the muscles of respiration. This condition may be associated with MOTOR NEURON DISEASES; PERIPHERAL NERVE DISEASES; NEUROMUSCULAR JUNCTION DISEASES; SPINAL CORD DISEASES; injury to the PHRENIC NERVE; and other disorders." [] synonym: "paralysis, respiratory" EXACT [] synonym: "respiratory tract paralysis" EXACT [] xref: MedDRA:10038708 xref: MeSH:D012133 xref: SNOMEDCT:95430002 is_a: EFO:0000618 ! nervous system disease is_a: EFO:0000684 ! respiratory system disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001841 name: sebaceous of Jadassohn nevus def: "A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities." [] synonym: "Intraepidermal epithelioma of Jadassohn" EXACT [] synonym: "Nevus, Sebaceous of Jadassohn" EXACT [] xref: MedDRA:10029387 xref: MeSH:D054000 xref: NCIt:C4110 xref: SNOMEDCT: 274897005 is_a: EFO:0000625 ! nevus property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001842 name: Serotonin Syndrome def: "An adverse drug interaction characterized by altered mental status, autonomic dysfunction, and neuromuscular abnormalities. It is most frequently caused by use of both serotonin reuptake inhibitors and monoamine oxidase inhibitors, leading to excess serotonin availability in the CNS at the serotonin 1A receptor." [] def: "Serotoninergic syndrome is characterized by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs)." [Orphanet:43116] subset: ordo_disease {source="Orphanet:43116"} synonym: "serotonergic syndrome" EXACT [Orphanet:43116] synonym: "serotonin storm" EXACT [Orphanet:43116] synonym: "serotonin syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "serotonin toxicity" EXACT [Orphanet:43116] synonym: "serotonin toxidrome" EXACT [Orphanet:43116] xref: ICD9:333.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10040108 {source="Orphanet:43116", source="Orphanet:43116/e"} xref: MESH:D020230 {source="Orphanet:43116", source="MONDO:equivalentTo", source="Orphanet:43116/e"} xref: MeSH:D020230 xref: MONDO:0018546 xref: ORDO:Orphanet_43116 xref: Orphanet:43116 {source="MONDO:equivalentTo"} xref: SCTID:371089000 {source="MONDO:equivalentTo"} xref: SNOMEDCT:371089000 is_a: EFO:0000618 {source="MONDO:0018753-obsoleted"} ! nervous system disease property_value: closeMatch http://identifiers.org/meddra/10040108 property_value: exactMatch http://identifiers.org/mesh/D020230 property_value: exactMatch http://identifiers.org/snomedct/371089000 property_value: exactMatch Orphanet:43116 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001843 name: sinoatrial nodal reentry tachycardia def: "Abnormally rapid heartbeats caused by reentry circuit in or around the SINOATRIAL NODE. It is characterized by sudden onset and offset episodes of tachycardia with a HEART RATE of 100-150 beats per minute. The P wave is identical to the sinus P wave but with a longer PR interval." [] synonym: "atrioventricular nodal reentry tachycardia" EXACT [] synonym: "AV nodal reentry tachycardia" EXACT [] synonym: "Tachycardia, Sinoatrial Nodal Reentry" EXACT [] xref: MeSH:D013615 is_a: EFO:0004269 ! cardiac arrhythmia property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001844 name: skin mastocytoma def: "A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology." [MESH:D054705] synonym: "cutaneous solitary mastocytoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "skin solitary mastocytoma" EXACT [NCIT:C7138] synonym: "solitary mastocytoma of skin" EXACT [DOID:3666, NCIT:C7138] synonym: "solitary mastocytoma of the skin" EXACT [NCIT:C7138] xref: DOID:3666 {source="MONDO:equivalentTo"} xref: EFO:1001844 {source="MONDO:equivalentTo"} xref: ICDO:9740/1 {source="NCIT:C7138"} xref: MESH:D054705 {source="MONDO:equivalentTo"} xref: NCIT:C7138 {source="MONDO:equivalentTo"} is_a: EFO:0009000 ! Mast Cell Neoplasm property_value: exactMatch DOID:3666 property_value: exactMatch http://identifiers.org/mesh/D054705 property_value: exactMatch NCIT:C7138 [Term] id: EFO:1001845 name: spinal cord compression def: "Acute and chronic conditions characterized by external mechanical compression of the SPINAL CORD due to extramedullary neoplasm; EPIDURAL ABSCESS; SPINAL FRACTURES; bony deformities of the vertebral bodies; and other conditions. Clinical manifestations vary with the anatomic site of the lesion and may include localized pain, weakness, sensory loss, incontinence, and impotence." [] xref: MedDRA:10041549 xref: MeSH:D013117 xref: NCIt:C3380 xref: SNOMEDCT:71286001 is_a: EFO:0000618 ! nervous system disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001846 name: Spinal Osteophytosis def: "Outgrowth of immature bony processes or bone spurs (OSTEOPHYTE) from the VERTEBRAE, reflecting the presence of degenerative disease and calcification. It commonly occurs in cervical and lumbar SPONDYLOSIS." [] xref: MeSH:D013128 is_a: EFO:0004260 ! bone disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001847 name: spinal subdural hematoma def: "Subdural hematoma of the SPINAL CANAL." [] synonym: "Hematoma, Subdural, Spinal" EXACT [] xref: MedDRA:10055383 xref: MeSH:D046649 xref: SNOMEDCT:703862003 is_a: EFO:0009488 ! spinal cord disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001848 name: squamous odontogenic tumor def: "A well-differentiated, benign, hamartomatous proliferation of odontogenic epithelium, probably arising from the rests of Malassez." [] synonym: "Odontogenic Tumor, Squamous" EXACT [] xref: MeSH:D051527 xref: NCIt:C7112 xref: SNOMEDCT:9155002 is_a: EFO:0005570 ! oral cavity cancer property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001849 name: staphylococcal skin infections def: "An infection caused by Staphylococcus." [NCIT:C35038] def: "Infections to the skin caused by bacteria of the genus STAPHYLOCOCCUS." [] synonym: "staphylococcal infection" EXACT [] {comment="preferred label from MONDO"} synonym: "staphylococcal infection" EXACT [NCIT:C35038] synonym: "Staphylococcal infection of skin" EXACT [] synonym: "Staphylococcal Scalded Skin Syndrome" EXACT [] synonym: "staphylococcal skin infection" EXACT [] xref: ICD10:L00 xref: MedDRA:10041925 xref: MedDRA:10048590 xref: MESH:D013203 {source="MONDO:equivalentTo"} xref: MeSH:D013207 xref: MONDO:0024313 xref: NCIT:C35038 {source="MONDO:equivalentTo"} xref: NCIt:C85077 xref: ORDO:Orphanet_36236 xref: SCTID:56038003 {source="MONDO:equivalentTo"} xref: SNOMEDCT:402938009 is_a: EFO:0000771 {source="MESH:D013203/inferred", source="MONDO:Redundant", source="NCIT:C35038"} ! bacterial disease property_value: exactMatch http://identifiers.org/mesh/D013203 property_value: exactMatch http://identifiers.org/snomedct/56038003 property_value: exactMatch NCIT:C35038 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001850 name: stomach diverticulum def: "Saccular, outward protrusion of all or a portion of the wall of the STOMACH." [] synonym: "Diverticulum, Stomach" EXACT [] xref: MeSH:D013273 is_a: EFO:0000405 ! digestive system disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001851 name: stomach rupture def: "Bursting of the STOMACH." [] xref: MeSH:D013275 is_a: EFO:0010282 ! gastrointestinal disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001852 name: Stomach Volvulus def: "Twisting of the STOMACH that may result in gastric ISCHEMIA and GASTRIC OUTLET OBSTRUCTION. It is often associated with DIAPHRAGMATIC HERNIA." [] xref: MeSH:D013277 is_a: HP:0004796 ! Gastrointestinal obstruction property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001853 name: submandibular gland neoplasm def: "A neoplasm (disease) that involves the submandibular gland." [MONDO:patterns/location] synonym: "neoplasm of submandibular gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3393] synonym: "neoplasm of the submandibular gland" EXACT [NCIT:C3393] synonym: "submandibular gland neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "submandibular gland neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "submandibular gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "submandibular gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3393] synonym: "submandibular gland tumour" EXACT OMO:0003005 [] synonym: "tumor of submandibular gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3393] synonym: "tumor of the submandibular gland" EXACT [NCIT:C3393] synonym: "tumour of submandibular gland" EXACT OMO:0003005 [] synonym: "tumour of the submandibular gland" EXACT OMO:0003005 [] xref: EFO:1001853 {source="MONDO:equivalentTo"} xref: MESH:D013365 {source="MONDO:equivalentTo"} xref: MONDO:0021244 xref: NCIT:C3393 {source="MONDO:equivalentTo"} xref: SCTID:254464000 {source="MONDO:equivalentTo"} xref: UMLS:C0038558 {source="NCIT:C3393", source="MONDO:equivalentTo"} is_a: MONDO:0001597 ! submandibular gland disorder is_a: MONDO:0021368 {source="MONDO:Redundant", source="NCIT:C3393"} ! neoplasm of major salivary gland property_value: exactMatch http://identifiers.org/mesh/D013365 property_value: exactMatch http://identifiers.org/mesh/D013365 property_value: exactMatch http://identifiers.org/snomedct/254464000 property_value: exactMatch http://identifiers.org/snomedct/254464000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038558 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038558 property_value: exactMatch NCIT:C3393 property_value: exactMatch NCIT:C3393 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/neoplasm.yaml [Term] id: EFO:1001854 name: subphrenic abscess def: "Accumulation of purulent EXUDATES beneath the DIAPHRAGM, also known as upper abdominal abscess. It is usually associated with PERITONITIS or postoperative infections." [] synonym: "upper abdominal abscess" EXACT [] xref: MedDRA:10070184 xref: MeSH:D013369 is_a: EFO:0003030 ! abscess property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001855 name: Superior Vena Cava Syndrome def: "A condition that occurs when the obstruction of the thin-walled SUPERIOR VENA CAVA interrupts blood flow from the head, upper extremities, and thorax to the RIGHT ATRIUM. Obstruction can be caused by NEOPLASMS; THROMBOSIS; ANEURYSM; or external compression. The syndrome is characterized by swelling and/or CYANOSIS of the face, neck, and upper arms." [] xref: MedDRA:10042569 xref: MeSH:D013479 xref: NCIt:C3396 is_a: EFO:0004264 ! vascular disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001856 name: Susac Syndrome def: "A rare disorder consisting of microangiopathy of brain, retina, and inner ear ARTERIOLES. It is characterized by the clinical triad of encephalopathy, BRANCH RETINAL ARTERY OCCLUSION and VERTIGO/hearing loss." [] def: "Susac syndrome (SS) is a rare disorder characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL). It is presumably due to autoimmune-mediated occlusions of microvessels in the CNS, the retina, and the inner ear." [Orphanet:838] subset: gard_rare {source="GARD:0007713"} subset: ordo_disease {source="Orphanet:838"} synonym: "RED-M" EXACT [Orphanet:838] synonym: "Retinocochleocerebral Vasculopathy" EXACT [] synonym: "Retinocochleocerebral vasculopathy" EXACT [Orphanet:838] synonym: "retinopathy-encephalopathy-deafness associated with microangiopathy" EXACT [Orphanet:838] synonym: "SICRET (small infarction of cochlear, retinal, and encephalic tissue) syndrome" RELATED [GARD:0007713] synonym: "SICRET syndrome" EXACT [Orphanet:838] synonym: "small infarctions of cochlear, retinal and encephalic tissue" EXACT [Orphanet:838] synonym: "Susac syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Susac's syndrome" EXACT [] xref: ICD9:348.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10071573 {source="Orphanet:838", source="Orphanet:838/e"} xref: MESH:D055955 {source="MONDO:equivalentTo", source="Orphanet:838", source="Orphanet:838/e"} xref: MeSH:D055955 xref: MONDO:0019390 xref: NCIT:C116363 {source="MONDO:equivalentTo"} xref: NCIt:C116363 xref: ORDO:Orphanet_838 xref: Orphanet:838 {source="MONDO:equivalentTo"} xref: SCTID:702575003 {source="MONDO:equivalentTo"} xref: SNOMEDCT:702575003 xref: UMLS:C2717757 {source="NCIT:C116363", source="MONDO:equivalentTo", source="Orphanet:838", source="Orphanet:838/e"} xref: Wikipedia:Susac's_syndrome is_a: EFO:0005140 ! autoimmune disease is_a: EFO:0005809 {source="EFO:1001856", source="MONDO:Redundant", source="NCIT:C116363"} ! type II hypersensitivity reaction disease is_a: MONDO:0002254 {source="NCIT:C116363"} ! syndromic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0019110"} ! rare property_value: closeMatch http://identifiers.org/meddra/10071573 property_value: exactMatch http://identifiers.org/mesh/D055955 property_value: exactMatch http://identifiers.org/snomedct/702575003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2717757 property_value: exactMatch NCIT:C116363 property_value: exactMatch Orphanet:838 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7713/susac-syndrome xsd:anyURI {source="GARD:0007713"} [Term] id: EFO:1001857 name: Takayasu arteritis def: "A chronic inflammatory process that affects the AORTA and its primary branches, such as the brachiocephalic artery (BRACHIOCEPHALIC TRUNK) and CAROTID ARTERIES. It results in progressive arterial stenosis, occlusion, and aneurysm formation. The pulse in the arm is hard to detect. Patients with aortitis syndrome often exhibit retinopathy." [] def: "A rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm." [Orphanet:3287] subset: ordo_disease {source="Orphanet:3287"} synonym: "aortic arch arteritis" EXACT [DOID:2508] synonym: "aortic arch syndrome" EXACT [DOID:2508, NCIT:C34391, Orphanet:99079] synonym: "cervical aortic arch" EXACT [Orphanet:99079] synonym: "idiopathic aortitis" EXACT [DOID:2508] synonym: "pharyngeal arch artery syndromic disease" EXACT [MONDO:patterns/location] synonym: "pulseless disease" RELATED [OMIM:207600] synonym: "TA" RELATED ABBREVIATION [GARD:0007730] synonym: "Takayasu arteritis" EXACT [DOID:2508, OMIM:207600] synonym: "Takayasu arteritis" EXACT [] {comment="preferred label from MONDO"} synonym: "Takayasu disease" RELATED [GARD:0007730] synonym: "Takayasu's arteritis" EXACT [MONDO:0008805] synonym: "Takayasu's disease" EXACT [DOID:2508, ICD9CM:446.7] synonym: "Young female arteritis" RELATED [OMIM:207600] xref: DOID:2508 {source="MONDO:equivalentTo"} xref: ICD9:446.7 {source="DOID:2508"} xref: MedDRA:10043097 {source="Orphanet:3287", source="Orphanet:3287/e"} xref: MESH:D013625 {source="Orphanet:3287", source="MONDO:equivalentTo", source="Orphanet:3287/e", source="DOID:2508"} xref: MeSH:D013625 xref: MONDO:0017991 xref: NCIT:C34391 {source="MONDO:equivalentTo", source="DOID:2508"} xref: NCIT:C35062 {source="MONDO:equivalentTo", source="DOID:2508"} xref: NCIt:C35062 xref: OMIM:207600 {source="Orphanet:3287", source="MONDO:equivalentTo", source="Orphanet:3287/e", source="DOID:2508"} xref: ORDO:Orphanet_3287 xref: Orphanet:3287 {source="OMIM:207600", source="MONDO:equivalentTo"} xref: Orphanet:99079 {source="MONDO:equivalentTo"} xref: SCTID:239937004 {source="MONDO:equivalentTo"} xref: UMLS:C0039263 {source="NCIT:C35062", source="Orphanet:3287", source="OMIM:207600", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3287/e", source="DOID:2508"} is_a: EFO:0000618 ! nervous system disease is_a: EFO:0003966 ! eye disease is_a: EFO:0009011 {source="EFO:1001857", source="MESH:D013625", source="NCIT:C35062"} ! Arteritis is_a: MONDO:0015236 {source="Orphanet:99079"} ! aortic arch defects is_a: MONDO:0015488 {source="Orphanet:3287"} ! predominantly large-vessel vasculitis is_a: MONDO:0018751 ! hereditary otorhinolaryngologic disease is_a: MONDO:0020592 ! disorder of pharynx is_a: MONDO:0100191 ! inherited kidney disorder property_value: closeMatch http://identifiers.org/meddra/10043097 property_value: exactMatch DOID:2508 property_value: exactMatch http://identifiers.org/mesh/D013625 property_value: exactMatch http://identifiers.org/snomedct/239937004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039263 property_value: exactMatch https://omim.org/entry/207600 property_value: exactMatch NCIT:C34391 property_value: exactMatch NCIT:C35062 property_value: exactMatch Orphanet:3287 property_value: exactMatch Orphanet:99079 property_value: excluded_subClassOf MONDO:0019724 {source="Orphanet:3287"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5166 xsd:anyURI [Term] id: EFO:1001858 name: Tarlov Cysts def: "Perineurial cysts commonly found in the SACRAL REGION. They arise from the PERINEURIUM membrane within the SPINAL NERVE ROOTS. The distinctive feature of the cysts is the presence of spinal nerve root fibers within the cyst wall, or the cyst cavity itself." [] synonym: "Tarlov cyst" EXACT [] xref: MeSH:D052958 is_a: EFO:0002431 ! tumour of cranial and spinal nerves property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001859 name: testicular hydrocele def: "Accumulation of serous fluid between the layers of membrane (tunica vaginalis) covering the TESTIS in the SCROTUM." [] synonym: "hydrocele testis" EXACT [] xref: ICD10:N43 xref: MeSH:D006848 is_a: EFO:0009555 ! male reproductive system disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001860 name: thymus hyperplasia def: "Enlargement of the thymus. A condition described in the late 1940's and 1950's as pathological thymic hypertrophy was status thymolymphaticus and was treated with radiotherapy. Unnecessary removal of the thymus was also practiced. It later became apparent that the thymus undergoes normal physiological hypertrophy, reaching a maximum at puberty and involuting thereafter. The concept of status thymolymphaticus has been abandoned. Thymus hyperplasia is present in two thirds of all patients with myasthenia gravis. (From Segen, Dictionary of Modern Medicine, 1992; Cecil Textbook of Medicine, 19th ed, p1486)" [] synonym: "hyperplasia, thymus" EXACT [] xref: MeSH:D013952 is_a: EFO:0000536 ! hyperplasia is_a: EFO:0000540 ! immune system disease is_a: EFO:0001379 ! endocrine system disease is_a: EFO:0005803 ! hematologic disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001861 name: traumatic diaphragmatic hernia def: "The type of DIAPHRAGMATIC HERNIA caused by TRAUMA or injury, usually to the ABDOMEN." [] synonym: "Hernia, Diaphragmatic, Traumatic" EXACT [] xref: MedDRA:10044521 xref: MeSH:D006549 xref: NCIt:C34688 xref: SNOMEDCT:236059003 is_a: EFO:0008561 ! diaphragmatic hernia property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001862 name: urinary bladder fistula def: "An abnormal passage in the URINARY BLADDER or between the bladder and any surrounding organ." [] synonym: "bladder fistula" EXACT [] xref: MedDRA:10051263 xref: MeSH:D001747 xref: NCIt:C79849 xref: SNOMEDCT:68666001 is_a: EFO:1000018 ! bladder disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001863 name: Uterine Inertia def: "Failure of the UTERUS to contract with normal strength, duration, and intervals during childbirth (LABOR, OBSTETRIC). It is also called uterine atony." [] synonym: "uterine atony" EXACT [] xref: ICD9:661.0 xref: MeSH:D014593 xref: SNOMEDCT:26158002 is_a: EFO:0009549 ! female reproductive system disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001864 name: uterine prolapse def: "Downward displacement of the UTERUS. It is classified in various degrees: in the first degree the UTERINE CERVIX is within the vaginal orifice; in the second degree the cervix is outside the orifice; in the third degree the entire uterus is outside the orifice." [] xref: ICD10:N81 xref: MedDRA:10046814 xref: MeSH:D014596 xref: NCIt:C35108 xref: SNOMEDCT:24976005 is_a: EFO:0004710 ! pelvic organ prolapse is_a: EFO:0009549 ! female reproductive system disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001865 name: ventilator-associated pneumonia def: "Serious INFLAMMATION of the LUNG in patients who required the use of PULMONARY VENTILATOR. It is usually caused by cross bacterial infections in hospitals (NOSOCOMIAL INFECTIONS)." [] synonym: "Pneumonia, Ventilator-Associated" EXACT [] synonym: "VAP" EXACT [] synonym: "ventilator-acquired pneumonia" EXACT [] xref: MeSH:D053717 xref: SNOMEDCT:429271009 is_a: EFO:0003106 ! pneumonia property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001866 name: ventral hernia def: "A hernia caused by weakness of the anterior ABDOMINAL WALL due to midline defects, previous incisions, or increased intra-abdominal pressure. Ventral hernias include UMBILICAL HERNIA, incisional, epigastric, and spigelian hernias." [] synonym: "hernia of anterior abdominal wall" EXACT [] synonym: "Hernia, Ventral" EXACT [] xref: ICD10:K43 xref: MedDRA:10047272 xref: MeSH:D006555 xref: NCIt:C118313 xref: SNOMEDCT:414396006 is_a: HP:0004299 ! Hernia of the abdominal wall property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001867 name: Zenker diverticulum def: "A DIVERTICULUM at the upper end of the ESOPHAGUS through the cricopharyngeal muscle at the junction of the PHARYNX and the esophagus." [] synonym: "Zenker's diverticulum" EXACT [] xref: MedDRA:10057019 xref: MeSH:D016672 xref: SNOMEDCT:399291005 is_a: EFO:0009544 ! esophageal disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1001868 name: congenital contractures of the limbs and face, hypotonia, and developmental delay def: "A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases." [Orphanet:562528] def: "CLIFAHDD is a congenital disorder characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay. All reported cases have occurred de novo (summary by Chong et al., 2015). " [] subset: ordo_disorder synonym: "CLIFAHDD" EXACT [] synonym: "CLIFAHDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616266] synonym: "CLIFAHDD syndrome" EXACT [Orphanet:562528] synonym: "congenital contractures of the limbs and face, hypotonia, and developmental delay" EXACT [MONDO:Lexical, OMIM:616266] synonym: "congenital contractures of the limbs and face, hypotonia, and developmental delay" EXACT [] {comment="preferred label from MONDO"} synonym: "congenital limbs-face contractures-hypotonia-developmental delay syndrome" EXACT [Orphanet:562528] xref: DOID:0081048 {source="MONDO:equivalentTo"} xref: MONDO:0014556 xref: OMIM:616266 {source="MONDO:equivalentTo", source="Orphanet:562528"} xref: Orphanet:562528 {source="MONDO:equivalentTo"} xref: UMLS:C4225398 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: Orphanet:71859 ! Rare genetic neurological disorder relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch DOID:0081048 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225398 property_value: exactMatch https://omim.org/entry/616266 property_value: exactMatch Orphanet:562528 property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: EFO:1001869 name: dysentery def: "Acute inflammation of the intestine associated with infectious diarrhea of various etiologies, generally acquired by eating contaminated food containing toxins, biological derived from bacteria or other microorganisms. Dysentery is characterized initially by watery feces then by bloody mucoid stools. It is often associated with abdominal pain; fever; and dehydration." [MESH:D004403] def: "Dysentery is a type of gastroenteritis that results in diarrhea with blood. Other symptoms may include fever, abdominal pain,[3] and a feeling of incomplete defecation.\n\nIt is caused by a number of types of infection such as bacteria, viruses, parasitic worms, or protozoa. The mechanism is an inflammatory disorder of the intestine, especially of the colon." [] synonym: "diarrheal disease, infectious" EXACT [MESH:D004403] synonym: "dysenteric diarrhea" EXACT [] synonym: "dysenteric diarrhoea" EXACT OMO:0003005 [] synonym: "dysentery" EXACT [] {comment="preferred label from MONDO"} synonym: "infectious diarrhea" EXACT [DOID:12384, ICD9CM:009.2] synonym: "infectious diarrheal disease" EXACT [MESH:D004403] synonym: "infectious diarrheal diseases" EXACT [MESH:D004403] synonym: "infectious diarrhoea" EXACT OMO:0003005 [] synonym: "infective diarrhea" EXACT [] synonym: "infective diarrhoea" EXACT OMO:0003005 [] xref: DOID:12384 {source="MONDO:equivalentTo"} xref: ICD9:009.2 {source="DOID:12384"} xref: MedDRA:10051402 xref: MESH:D004403 {source="MONDO:equivalentTo", source="DOID:12384"} xref: MeSH:D004403 xref: MONDO:0001517 xref: SCTID:111939009 {source="MONDO:equivalentTo", source="DOID:12384"} xref: SCTID:19213003 {source="MONDO:equivalentTo", source="DOID:12384"} xref: UMLS:C0013369 {source="MONDO:equivalentTo", source="DOID:12384"} xref: Wikipedia:Dysentery is_a: MONDO:0000252 ! inflammatory diarrhea is_a: MONDO:0000257 ! acute diarrhea is_a: MONDO:0000916 {source="DOID:12384"} ! intestinal infectious disease intersection_of: EFO:0005741 ! infectious disease intersection_of: MONDO:0001673 ! diarrheal disease relationship: EFO:0000784 UBERON:0001007 ! has_disease_location digestive system property_value: exactMatch DOID:12384 property_value: exactMatch http://identifiers.org/mesh/D004403 property_value: exactMatch http://identifiers.org/snomedct/111939009 property_value: exactMatch http://identifiers.org/snomedct/19213003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013369 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3703 xsd:anyURI [Term] id: EFO:1001870 name: late-onset Alzheimers disease def: "This is the most common form of the disease, which happens to people age 65 and older. It may or may not run in families. So far, researchers haven’t found a particular gene that causes it. No one knows for sure why some people get it and others don’t." [] synonym: "Alzheimer Senile Dementia" EXACT [] synonym: "Alzheimer Type Senile Dementia" EXACT [] synonym: "late-onset Alzheimer's" EXACT [] synonym: "Senile Dementia, Alzheimer Type" EXACT [] is_a: MONDO:0004975 ! Alzheimer disease property_value: definition:citation http://www.webmd.com/alzheimers/guide/alzheimers-types xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string property_value: prefLabel "late-onset Alzheimer's disease" xsd:string [Term] id: EFO:1001871 name: acquired cold urticaria def: "Acquired cold urticaria (ACU) represents a form of inducible urticaria that is characterized by the development of wheals, angioedema, or both in response to exposure to cold air, solids, or liquids.1 ACU symptoms are usually limited to areas of the skin that have been exposed to cold. However, extensive cold contact may result in generalized symptoms, such as headache, dyspnea, hypotension, and a loss of consciousness." [] synonym: "ACU" EXACT [] is_a: EFO:1001881 ! cold urticaria property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001872 name: agoraphobia def: "A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable." [] def: "An anxiety disorder characterized by an intense, irrational fear of venturing out into open places or situations in which help (or escape) might not be available should excessive anxiety or panic symptoms develop." [NCIT:P378] synonym: "agoraphobia" EXACT [] {comment="preferred label from MONDO"} synonym: "fear of open spaces" EXACT [DOID:593] synonym: "fear of open spaces (finding)" EXACT [DOID:593] xref: DOID:593 {source="MONDO:equivalentTo"} xref: ICD10CM:F40.0 {source="MONDO:equivalentTo", source="DOID:593"} xref: MedDRA:10001502 xref: MESH:D000379 {source="MONDO:equivalentTo", source="DOID:593"} xref: MeSH:D000379 xref: MONDO:0003709 xref: NCIT:C34362 {source="MONDO:equivalentTo", source="DOID:593"} xref: NCIt:C34362 xref: SCTID:70691001 {source="MONDO:equivalentTo", source="DOID:593"} xref: UMLS:C0001818 xref: Wikipedia:Agoraphobia is_a: EFO:1001908 {source="DOID:593", source="EFO:1001872", source="NCIT:C34362"} ! phobic disorder property_value: exactMatch DOID:593 property_value: exactMatch http://identifiers.org/mesh/D000379 property_value: exactMatch http://identifiers.org/snomedct/70691001 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/F40.0 property_value: exactMatch NCIT:C34362 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001873 name: AIDS phobia def: "An overwhelming, irrational, and persistent fear of contracting Acquired Immune Deficiency Syndrome." [NCIT:C35614] synonym: "AIDS phobia" EXACT [NCIT:C35614] synonym: "AIDS phobia" EXACT [] {comment="preferred label from MONDO"} xref: DOID:603 {source="MONDO:equivalentTo"} xref: MedDRA:10001511 xref: MONDO:0003740 xref: NCIT:C35614 {source="DOID:603", source="MONDO:equivalentTo"} xref: NCIt:C35614 xref: UMLS:C0853870 {source="DOID:603", source="MONDO:equivalentTo", source="NCIT:C35614"} is_a: EFO:1001903 {source="DOID:603", source="EFO:1001873"} ! nosophobia property_value: exactMatch DOID:603 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0853870 property_value: exactMatch NCIT:C35614 property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001874 name: amyloidoma def: "Nodular localized form of amyloidosis with predominantly thoracic localization (pulmonary amyloidosis), considered as secondary protein structure disease in which insoluble protein fibrils accumulate extracellularly. The form of primary amyloid in amyloidoma is characterized by abnormal deposition of light chain proteins composed of monoclonal immunoglobulin. Pulmonary amyloidomas are rare and are often found incidentally as solitary or multiple calcified nodules and masses on chest radiographs in asymptomatic elderly patients. Cavitation is rare, the prognosis is good." [] xref: MedDRA:10059047 is_a: EFO:1001875 ! amyloidosis property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001875 name: amyloidosis def: "A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands." [NCIT:C2868] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:69"} synonym: "amyloid" EXACT [NCIT:C2868] synonym: "amyloid disease" EXACT [DOID:9120] synonym: "amyloidoses" EXACT [MESH:D000686] synonym: "amyloidosis" EXACT [] {comment="preferred label from MONDO"} synonym: "amyloidosis" EXACT [MONDO:ambiguous] synonym: "amyloidosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:0004711] synonym: "systemic amyloidosis" EXACT [] xref: DOID:9120 {source="MONDO:equivalentTo"} xref: HP:0011034 {source="MONDO:otherHierarchy"} xref: ICD10:E85 xref: ICD9:277.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9120"} xref: ICD9:277.30 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9120"} xref: MedDRA:10002022 {source="Orphanet:69", source="Orphanet:69/e"} xref: MESH:D000686 {source="Orphanet:69", source="MONDO:equivalentTo", source="DOID:9120", source="Orphanet:69/e"} xref: MeSH:D000686 xref: MONDO:0019065 xref: NCIT:C2868 {source="MONDO:equivalentTo", source="DOID:9120"} xref: NCIt:C2868 xref: ONCOTREE:MIDDA {source="MONDO:equivalentTo"} xref: Orphanet:69 {source="MONDO:equivalentTo"} xref: SCTID:17602002 {source="MONDO:equivalentTo", source="DOID:9120"} xref: UMLS:C0002726 {source="NCIT:C2868", source="Orphanet:69", source="MONDO:equivalentTo", source="DOID:9120", source="Orphanet:69/e"} xref: Wikipedia:Amyloidosis is_a: EFO:1000639 ! acquired metabolic disease is_a: MONDO:0021179 {source="MESH:D000686"} ! proteostasis deficiencies property_value: closeMatch http://identifiers.org/meddra/10002022 property_value: exactMatch DOID:9120 property_value: exactMatch http://identifiers.org/mesh/D000686 property_value: exactMatch http://identifiers.org/snomedct/17602002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002726 property_value: exactMatch NCIT:C2868 property_value: exactMatch Orphanet:69 property_value: IAO:0000117 "Gautier Koscielny" xsd:string property_value: IAO:0000589 "amyloidosis (disease)" xsd:string [Term] id: EFO:1001876 name: animal phobia def: "An overwhelming, irrational, and persistent fear of animals." [NCIT:P378] synonym: "animal phobia" EXACT [] {comment="preferred label from MONDO"} synonym: "dog phobia" EXACT [] synonym: "fear of animals" EXACT [DOID:600] synonym: "fear of animals (finding)" EXACT [DOID:600] synonym: "small animal phobia" EXACT [] synonym: "small-animal phobias" EXACT [] synonym: "spider phobia" EXACT [] synonym: "zoophobia" EXACT [DOID:600] synonym: "zoophobia (finding)" EXACT [DOID:600] xref: DOID:600 {source="MONDO:equivalentTo"} xref: MedDRA:10002518 xref: MONDO:0003727 xref: NCIT:C35273 {source="DOID:600", source="MONDO:equivalentTo"} xref: NCIt:C35273 xref: UMLS:C0233711 is_a: EFO:1001918 {source="DOID:600", source="EFO:1001876", source="NCIT:C35273"} ! specific phobia property_value: exactMatch DOID:600 property_value: exactMatch NCIT:C35273 property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001877 name: anxiety-like behavior synonym: "anxiety behavior" EXACT [] is_a: GO:0007610 ! behavior property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001878 name: blood-injection-injury phobia def: "According to the DSM-IV classification of mental disorders blood-injection-injury type phobias constitute a subtype of specific phobias. It includes fear of blood (hemophobia), injury phobia and fear of receiving an injection (trypanophobia and some other names) or other invasive medical procedures." [] synonym: "blood phobia" EXACT [] synonym: "Blood-injection-injury type phobia" EXACT [] synonym: "blood-injury phobia" EXACT [] synonym: "Blood/Injury Phobia" EXACT [] xref: Wikipedia:Blood-injection-injury_type_phobia is_a: EFO:1001918 ! specific phobia property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001879 name: cancerophobia def: "An overwhelming, irrational, and persistent fear of being diagnosed with cancer." [NCIT:P378] synonym: "cancer phobia" EXACT [DOID:602] synonym: "cancerophobia" EXACT [] {comment="preferred label from MONDO"} synonym: "Cancerphobia" EXACT [NCIT:C35492] synonym: "cancerphobia" EXACT [] synonym: "fear of getting cancer" EXACT [DOID:602] synonym: "Fear of getting cancer (finding)" EXACT [] synonym: "fear of getting cancer (finding)" EXACT [DOID:602] xref: DOID:602 {source="MONDO:equivalentTo"} xref: MONDO:0003736 xref: NCIT:C35492 {source="DOID:602", source="MONDO:equivalentTo"} xref: NCIt:C35492 xref: UMLS:C0233705 is_a: EFO:1001903 {source="DOID:602", source="EFO:1001879"} ! nosophobia property_value: exactMatch DOID:602 property_value: exactMatch NCIT:C35492 property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001880 name: chemotherapy-induced gastrointestinal mucositis def: "inflammation and ulceration of the gastrointestinal mucosa as a result of chemotherapy treatment" [] synonym: "chemo-induced gut toxicity" EXACT [] synonym: "chemotherapy-induced gut toxicity" EXACT [] synonym: "chemotherapy-induced gut toxicity (CIGT)" EXACT [] synonym: "chemotherapy-induced mucositis (CIM)" EXACT [] is_a: EFO:0000405 ! digestive system disease is_a: EFO:1001891 ! gastrointestinal mucositis property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001881 name: cold urticaria def: "Cold urticaria (essentially meaning \"cold hives\") is a disorder where hives (urticaria) or large red welts form on the skin after exposure to a cold stimulus. [Wikipedia:Cold_urticaria]" [] def: "Cold urticaria is a condition that affects the skin. Signs and symptoms generally include reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and can last for 1-2 hours. The exact cause of cold urticaria is poorly understood in most cases. Rarely, it may be associated with an underlying blood condition or infectious disease. Treatment generally consists of patient education, avoiding exposures that may trigger a reaction, and/or medications." [GARD:0006131] subset: gard_rare synonym: "chronic cold urticaria" EXACT [] synonym: "cold contact urticaria" EXACT [] synonym: "cold contact urticaria" RELATED [GARD:0006131] synonym: "cold urticaria" EXACT [] {comment="preferred label from MONDO"} synonym: "cold-induced urticaria" EXACT [] synonym: "primary idiopathic cold urticaria" RELATED [GARD:0006131] synonym: "urticaria idiopathic cold" RELATED [GARD:0006131] xref: MedDRA:10009869 xref: MONDO:0022799 xref: SCTID:74774004 {source="MONDO:equivalentTo"} xref: UMLS:C0221207 {source="MONDO:equivalentTo"} xref: Wikipedia:Cold_urticaria is_a: EFO:0005531 {source="EFO:1001881"} ! urticaria property_value: exactMatch http://identifiers.org/snomedct/74774004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221207 property_value: IAO:0000117 "Gautier Koscielny" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6131/cold-urticaria xsd:anyURI {source="GARD:0006131"} [Term] id: EFO:1001882 name: cutaneous nodular amyloidosis def: "Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as SjC6grenBs syndrome and CREST syndrome." [Orphanet:137810] subset: gard_rare {source="GARD:0010562"} subset: ordo_disease {source="Orphanet:137810"} synonym: "amyloidosis cutis nodularis atrophicans" RELATED [GARD:0010562] synonym: "amyloidosis nodular localised cutaneous" EXACT OMO:0003005 [] synonym: "amyloidosis nodular localized cutaneous" EXACT [MONDO:0022446] synonym: "Amyloidosis, primary localized cutaneous, 1" EXACT [] synonym: "localized primary cutaneous nodular amyloidosis" EXACT [] synonym: "NLCA" RELATED ABBREVIATION [GARD:0010562] synonym: "nodular cutaneous amyloidosis" EXACT [] {comment="preferred label from MONDO"} synonym: "PCNA" EXACT [] synonym: "PLCNA" EXACT ABBREVIATION [Orphanet:137810] synonym: "primary cutaneous amyloidosis" EXACT [] synonym: "primary cutaneous nodular amyloidosis" EXACT [] synonym: "primary localised cutaneous nodular amyloidosis" EXACT OMO:0003005 [] synonym: "primary localized cutaneous nodular amyloidosis" EXACT [Orphanet:137810] xref: ICD10EXP:E85.4+ {source="Orphanet:137810/ntbt", source="Orphanet:137810"} xref: ICD10EXP:L99.0* {source="Orphanet:137810/ntbt", source="Orphanet:137810"} xref: MedDRA:10056953 {source="Orphanet:137810", source="Orphanet:137810/e"} xref: MONDO:0015302 xref: OMIM:105250 xref: ORDO:137810 xref: Orphanet:137810 {source="MONDO:equivalentTo"} xref: SCTID:716704007 {source="MONDO:equivalentTo"} xref: UMLS:C0546394 {source="Orphanet:137810", source="MONDO:equivalentTo", source="Orphanet:137810/e"} xref: UMLS:C4274331 {source="MONDO:equivalentTo"} is_a: EFO:1001874 ! amyloidoma is_a: MONDO:0015301 {source="Orphanet:137810"} ! primary cutaneous amyloidosis property_value: closeMatch http://identifiers.org/meddra/10056953 property_value: exactMatch http://identifiers.org/snomedct/716704007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0546394 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274331 property_value: exactMatch Orphanet:137810 property_value: IAO:0000117 "Gautier Koscielny" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10562/amyloidosis-nodular-localized-cutaneous xsd:anyURI {source="GARD:0010562"} [Term] id: EFO:1001883 name: Dendritic keratitis def: "a form of herpetic keratitis with dendritic (branching) ulcers" [] synonym: "Furrow Keratitis" EXACT [] xref: MedDRA:10012307 xref: MeSH:D007635 is_a: EFO:0007308 ! Herpes simplex virus keratitis property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001884 name: dental phobia def: "Dental fear (also called dental phobia, odontophobia, dentophobia, dentist phobia, and dental anxiety) is the fear of dentistry and of receiving dental care." [] synonym: "dental anxiety" EXACT [] synonym: "dental fear" EXACT [] synonym: "dentist phobia" EXACT [] synonym: "dentophobia" EXACT [] synonym: "odontophobia" EXACT [] xref: NCIt:C35140 xref: UMLS:C0085380 xref: Wikipedia:Dental_fear is_a: EFO:1001918 ! specific phobia property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001885 name: diffuse alveolar-septal amyloidosis def: "Diffuse alveolar-septal amyloidosis, also known as diffuse parenchymal amyloidosis, is characterized by the presence of amyloid deposits in the alveolar septa and vessel walls. [PMID:28134587]" [] synonym: "diffuse parenchymal amyloidosis" EXACT [] is_a: EFO:1001910 ! pulmonary amyloidosis property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001886 name: Endoplasmic Reticulum Stress def: "Various physiological or molecular disturbances that impair ENDOPLASMIC RETICULUM function. It triggers many responses, including UNFOLDED PROTEIN RESPONSE, which may lead to APOPTOSIS; and AUTOPHAGY." [] synonym: "ER stress" EXACT [] xref: MeSH:D059865 is_a: GO:0044237 ! cellular metabolic process property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001887 name: epicondylitis def: "Inflammation of the epicondyles." [] def: "Inflammation of the lateral epicondyle." [NCIT:P378] synonym: "andrel epicondylitis" EXACT [DOID:14087] synonym: "archer's elbow" EXACT [DOID:14087] synonym: "ectepicondyle of humerus inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "epicondylitis" EXACT [] {comment="preferred label from MONDO"} synonym: "golfer's elbow" EXACT [DOID:14087] synonym: "hockey elbow" EXACT [DOID:14087] synonym: "inflammation of ectepicondyle of humerus" EXACT [] synonym: "lateral epicondylitis" EXACT [DOID:14087, ICD9CM:726.32] synonym: "medial epicondylitis" EXACT [DOID:14087] synonym: "shooter's elbow" RELATED [DOID:14087] synonym: "tennis elbow" RELATED [DOID:14087] xref: DOID:14087 {source="MONDO:equivalentTo"} xref: ICD10CM:M77.1 {source="DOID:14087", source="MONDO:equivalentTo"} xref: ICD9:726.32 {source="DOID:14087", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10014971 xref: MedDRA:10018503 xref: MESH:D013716 {source="DOID:14087", source="MONDO:equivalentTo"} xref: MONDO:0001875 xref: NCIT:C34589 {source="DOID:14087", source="MONDO:equivalentTo"} xref: SCTID:202855006 {source="DOID:14087", source="MONDO:equivalentTo"} xref: UMLS:C0014488 {source="DOID:14087", source="MONDO:equivalentTo", source="NCIT:C34589"} is_a: EFO:0009903 {source="MONDO:Redundant"} ! inflammatory disease is_a: EFO:1001434 ! Tendinopathy is_a: MONDO:0002614 {source="DOID:14087"} ! bone inflammation disease property_value: exactMatch DOID:14087 property_value: exactMatch http://identifiers.org/mesh/D013716 property_value: exactMatch http://identifiers.org/snomedct/202855006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014488 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/M77.1 property_value: exactMatch NCIT:C34589 property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001888 name: eye infection def: "An infectious process affecting any part of the eye. Causes include viruses and bacteria. Symptoms include itching and discomfort in the eye, watery eyes, eye pain and discharge, and blurring vision. Representative examples include pink eye, blepharitis, and trachoma." [] synonym: "eye infections" EXACT [] synonym: "ocular infection" EXACT [] synonym: "Ocular Infections" EXACT [] xref: MedDRA:10015929 xref: MeSH:D015817 xref: NCIt:C45372 xref: UMLS:C0015403 is_a: EFO:0003966 ! eye disease is_a: EFO:0005741 ! infectious disease property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001889 name: flying phobia def: "An overwhelming, irrational, and persistent fear of traveling in an aircraft." [NCIT:C35413] def: "Fear of flying is a fear of being on an airplane (aeroplane), or other flying vehicle, such as a helicopter, while in flight. It is also referred to as flying phobia, flight phobia, aviophobia or aerophobia (although the last also means a fear of drafts or of fresh air)." [] synonym: "aviophobia" EXACT [] synonym: "fear of flying" EXACT [] synonym: "flight phobia" EXACT [] synonym: "flying phobia" EXACT [] {comment="preferred label from MONDO"} xref: DOID:605 {source="MONDO:equivalentTo"} xref: MONDO:0003748 xref: NCIT:C35413 {source="MONDO:equivalentTo", source="DOID:605"} xref: NCIt:C35413 xref: UMLS:C0344318 xref: Wikipedia:Fear_of_flying is_a: EFO:1001918 {source="DOID:605", source="EFO:1001889", source="NCIT:C35413"} ! specific phobia property_value: exactMatch DOID:605 property_value: exactMatch NCIT:C35413 property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001890 name: food allergy def: "Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food." [MESH:D005512] synonym: "allergic disease from food material" EXACT [] synonym: "allergy of food material" EXACT [MONDO:patterns/allergy] synonym: "food allergy" EXACT [] {comment="preferred label from MONDO"} synonym: "Food Hypersensitivity" EXACT [] synonym: "food hypersensitivity" EXACT [DOID:3044] synonym: "Food intolerance" EXACT [] synonym: "food material allergic disease" EXACT [MONDO:patterns/environmental_stimulus] xref: DOID:3044 {source="MONDO:equivalentTo"} xref: ICD9:995.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10016946 xref: MESH:D005512 {source="DOID:3044", source="MONDO:equivalentTo"} xref: MeSH:D005512 xref: MONDO:0700226 xref: SCTID:414285001 {source="DOID:3044", source="MONDO:equivalentTo"} is_a: MONDO:0005271 {source="https://orcid.org/0000-0002-4142-7153"} ! allergic disease property_value: exactMatch DOID:3044 property_value: exactMatch http://identifiers.org/mesh/D005512 property_value: exactMatch http://identifiers.org/snomedct/414285001 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Gautier Koscielny" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5914 xsd:anyURI [Term] id: EFO:1001891 name: gastrointestinal mucositis synonym: "gastrointestinal mucosa irritation" EXACT [] synonym: "gastrointestinal mucosal damage" EXACT [] synonym: "gastrointestinal mucosal injury" EXACT [] synonym: "gastrointestinal mucosal lesions" EXACT [] xref: MedDRA:10017981 is_a: EFO:1001898 ! mucositis property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001892 name: generalized anxiety disorder def: "An anxiety disorder characterized by excessive and difficult-to-control worry about a number of life situations. The worry is accompanied by restlessness, fatigue, inability to concentrate, irritability, muscle tension, and/or sleep disturbance and lasts for at least 6 months." [NCIT:P378] def: "An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation." [] synonym: "GAD" EXACT ABBREVIATION [NCIT:C92622] synonym: "generalised anxiety disorder" EXACT [] synonym: "generalised anxiety disorders" EXACT [] synonym: "generalized anxiety disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "generalized anxiety disorders" EXACT [] xref: DOID:14320 {source="MONDO:equivalentTo"} xref: ICD10CM:F41.1 {source="MONDO:equivalentTo", source="DOID:14320"} xref: ICD9:300.02 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14320"} xref: MedDRA:10018105 xref: MONDO:0001942 xref: NCIT:C92622 {source="MONDO:equivalentTo", source="DOID:14320"} xref: NCIt:C92622 xref: SCTID:21897009 {source="MONDO:equivalentTo", source="DOID:14320"} xref: UMLS:C0270549 xref: Wikipedia:Generalized_anxiety_disorder is_a: EFO:0006788 {source="DOID:14320", source="EFO:1001892", source="NCIT:C92622"} ! anxiety disorder property_value: exactMatch DOID:14320 property_value: exactMatch http://identifiers.org/snomedct/21897009 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/F41.1 property_value: exactMatch NCIT:C92622 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001893 name: Hand-foot syndrome synonym: "Burgdorf’s reaction" EXACT [] synonym: "Chemotherapy-Induced Acral Erythema" EXACT [] synonym: "chemotherapy-induced AE" EXACT [] synonym: "Chemotherapy-Induced Palmoplantar Erythrodysesthesia" EXACT [] synonym: "HFS" EXACT [] synonym: "palmar-plantar erythema" EXACT [] synonym: "palmar-plantar erythrodysesthesia" EXACT [] synonym: "peculiar AE" EXACT [] synonym: "toxic erythema of the palms and soles" EXACT [] xref: MeSH:D060831 xref: Wikipedia:Chemotherapy-induced_acral_erythema is_a: EFO:0000701 ! skin disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001896 name: lateral epicondylitis def: "inflammation of the lateral epicondyle." [] synonym: "archer's elbow" EXACT [] synonym: "golfer's elbow" EXACT [] synonym: "hockey elbow" EXACT [] synonym: "lateral epicondylalgia" EXACT [] synonym: "lateral humeral epicondylitis" EXACT [] synonym: "tennis elbow" EXACT [] xref: DOID:14088 xref: MedDRA:10018503 xref: MedDRA:10024032 xref: MeSH:D013716 xref: NCIt:C35067 xref: UMLS:C0039516 is_a: EFO:1001887 ! epicondylitis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001897 name: Morvan syndrome def: "Morvan syndrome is a rare autoimmune/paraneoplastic disorder involving antibodies to the voltage-gated potassium channel complex. It is defined by subacute encephalopathy, neuromuscular hyperexcitability, dysautonomia, and sleep disturbance. [PMID:27224435]" [] def: "Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases." [Orphanet:83467] subset: ordo_disease {source="Orphanet:83467"} synonym: "limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome" EXACT [Orphanet:83467] synonym: "MFC" EXACT [] synonym: "Morvan syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Morvan's fibrillary chorea" EXACT [Orphanet:83467] synonym: "Morvan's syndrome" EXACT [] synonym: "MoS" EXACT [] xref: MedDRA:10075006 xref: MONDO:0008718 xref: ORDO:Orphanet_83467 xref: Orphanet:83467 {source="MONDO:equivalentTo"} xref: SCTID:763803004 {source="MONDO:equivalentTo"} xref: UMLS:C0751540 {source="MONDO:equivalentTo", source="Orphanet:83467", source="Orphanet:83467/e"} xref: Wikipedia:Morvan%27s_syndrome is_a: EFO:1001899 {source="EFO:1001897", source="Orphanet:83467"} ! muscular channelopathy is_a: MONDO:0016375 {source="Orphanet:83467"} ! acquired peripheral movement disorder property_value: exactMatch http://identifiers.org/snomedct/763803004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751540 property_value: exactMatch Orphanet:83467 property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001898 name: mucositis def: "Mucositis is inflammation and damage of the mucous membranes lining the mouth and other parts of the gastrointestinal (GI) tract." [] xref: MedDRA:10028127 xref: MeSH:D052016 is_a: MP:0001845 ! inflammation property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001899 name: muscular channelopathy def: "A channelopathy that involves the muscle tissue." [MONDO:patterns/location] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:71864"} synonym: "channelopathy of muscle tissue" EXACT [MONDO:design_pattern] synonym: "muscle tissue channelopathy" EXACT [MONDO:patterns/location] synonym: "muscular channelopathy" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0019119 xref: Orphanet:71864 {source="MONDO:equivalentTo"} xref: Orphanet:98737 {source="MONDO:mondoIsBroaderThanSource"} is_a: EFO:1001902 {source="Orphanet:71864"} ! neuromuscular disease property_value: exactMatch Orphanet:71864 property_value: narrowMatch Orphanet:98737 [Term] id: EFO:1001900 name: myoclonic epilepsy def: "A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.)." [] synonym: "Benign Infantile Myoclonic Epilepsy" EXACT [] synonym: "Cryptogenic Myoclonic Epilepsy" EXACT [] synonym: "Early Childhood Epilepsy, Myoclonic" EXACT [] synonym: "Early Childhood, Myoclonic Epilepsy" EXACT [] synonym: "Encephalopathy, Myoclonic" EXACT [] synonym: "Epilepsy, Early Childhood, Myoclonic" EXACT [] synonym: "Epilepsy, Myoclonic, Early Childhood" EXACT [] synonym: "Epilepsy, Myoclonic, Infantile" EXACT [] synonym: "Epilepsy, Myoclonic, Infantile, Benign" EXACT [] synonym: "Epilepsy, Myoclonic, Infantile, Severe" EXACT [] synonym: "Epilepsy, Myoclonus" EXACT [] synonym: "Idiopathic Myoclonic Epilepsy" EXACT [] synonym: "Infantile Severe Myoclonic Epilepsy" EXACT [] synonym: "Myoclonic Absence EpilepsyMyoclonic Astatic Epilepsy" EXACT [] synonym: "Myoclonic Encephalopathy" EXACT [] synonym: "Myoclonic Epilepsy" EXACT [] synonym: "Myoclonic Epilepsy, Benign InfantileMyoclonic Epilepsy, Early Childhood" EXACT [] synonym: "Myoclonic Epilepsy, Infantile" EXACT [] synonym: "Myoclonic Epilepsy, Infantile, Benign" EXACT [] synonym: "Myoclonic Epilepsy, Infantile, Severe" EXACT [] synonym: "Myoclonic Epilepsy, Severe Infantile" EXACT [] synonym: "Myoclonic Epilepsy, Severe, Of Infancy" EXACT [] synonym: "Myoclonic Seizure Disorder" EXACT [] synonym: "Severe Infantile Myoclonic Epilepsy" EXACT [] synonym: "Severe Myoclonic Epilepsy Of Infancy" EXACT [] synonym: "Severe Myoclonic Epilepsy, Infantile" EXACT [] synonym: "Symptomatic Myoclonic Epilepsy" EXACT [] xref: MedDRA:10054859 xref: MeSH:D004831 xref: OMIM:618074 xref: OMIM:618075 is_a: EFO:0000474 ! epilepsy property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001901 name: neuroendocrine neoplasm def: "A benign or malignant neoplasm composed of cells of neuroendocrine origin. Representative examples include paraganglioma, carcinoid tumor, and neuroendocrine carcinoma." [] def: "Endocrine tumors, also referred to as neuroendocrine tumors (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumors may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumors or for a clinical syndrome caused by abnormal hormone secretion)." [Orphanet:877] comment: Editor note: TODO design pattern, often NCIT uses 'neuroendocrine tumor' for particular grading with 'neuroendocrine neoplasm' as the superclass subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:877"} synonym: "APUDoma" EXACT [Orphanet:877] synonym: "NET" EXACT [] synonym: "neuroendocrine neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "neuroendocrine neoplasm" EXACT [DOID:169, NCIT:C3809] synonym: "neuroendocrine tumor" EXACT [NCIT:C3809] synonym: "neuroendocrine tumour" EXACT OMO:0003005 [] xref: DOID:169 {source="MONDO:equivalentTo"} xref: ICD9:209 {source="DOID:169"} xref: ICD9:209-209.99 {source="DOID:169"} xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D018358 {source="MONDO:equivalentTo", source="DOID:169"} xref: MeSH:D018358 xref: MONDO:0019496 xref: NCIT:C3809 {source="MONDO:equivalentTo", source="DOID:169"} xref: Orphanet:877 {source="MONDO:equivalentTo"} xref: SCTID:255046005 {source="MONDO:equivalentTo", source="DOID:169"} xref: UMLS:C0003650 {source="Orphanet:877", source="MONDO:equivalentTo"} xref: UMLS:C0206754 {source="Orphanet:877", source="MONDO:equivalentTo", source="NCIT:C3809", source="DOID:169"} xref: UMLS:CN206284 {source="MONDO:equivalentTo"} is_a: EFO:0003769 {source="EFO:1001901", source="MONDO:Redundant", source="NCIT:C3809", source="Orphanet:877"} ! endocrine neoplasm relationship: disease_has_feature EFO:1001869 {source="MONDO:Wikidata"} ! dysentery property_value: exactMatch DOID:169 property_value: exactMatch http://identifiers.org/mesh/D018358 property_value: exactMatch http://identifiers.org/snomedct/255046005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003650 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206754 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206284 property_value: exactMatch NCIT:C3809 property_value: exactMatch Orphanet:877 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001902 name: neuromuscular disease def: "A neuropathy that affect the nerves that control the voluntary muscles." [] def: "Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions" [Wikipedia:Neuromuscular_disease] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:68381"} synonym: "nerve and muscle disorder" EXACT [ISBN-13:978-1-259-64403-0] synonym: "neuromuscular disease" EXACT [MONDO:0002986] synonym: "neuromuscular disease" EXACT [] {comment="preferred label from MONDO"} xref: DOID:440 {source="MONDO:equivalentTo"} xref: ICD9:358 {source="DOID:440"} xref: ICD9:358.9 {source="DOID:440"} xref: MedDRA:10029323 {source="Orphanet:68381", source="Orphanet:68381/e"} xref: MESH:D009468 {source="MONDO:equivalentTo", source="Orphanet:68381", source="DOID:440", source="Orphanet:68381/e"} xref: MeSH:D009468 xref: MONDO:0019056 xref: Orphanet:68381 {source="MONDO:equivalentTo"} xref: UMLS:C0027868 {source="MONDO:equivalentTo", source="Orphanet:68381", source="DOID:440", source="Orphanet:68381/e"} is_a: EFO:0000618 {source="ISBN-13:978-1-259-64403-0"} ! nervous system disease is_a: EFO:0004149 ! neuropathy property_value: closeMatch http://identifiers.org/meddra/10029323 property_value: exactMatch DOID:440 property_value: exactMatch http://identifiers.org/mesh/D009468 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027868 property_value: exactMatch Orphanet:68381 [Term] id: EFO:1001903 name: nosophobia def: "A specific phobia that involves an irrational fear of contracting a disease." [DOID:0060048, http://en.wikipedia.org/wiki/Nosophobia] def: "Nosophobia is the irrational fear of contracting a disease, a type of specific phobia. Primary fears of this kind are fear of contracting pulmonary tuberculosis, venereal diseases, cancer, and heart diseases." [] synonym: "illness anxiety disorder" EXACT [] synonym: "nosophobia" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0060048 {source="MONDO:equivalentTo"} xref: MedDRA:10063546 xref: MONDO:0000600 xref: Wikipedia:Nosophobia is_a: EFO:1001918 {source="DOID:0060048", source="EFO:1001903"} ! specific phobia property_value: exactMatch DOID:0060048 property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001904 name: oral mucositis def: "Inflammation of the mucous membranes of any of the structures in the mouth." [] synonym: "inflammation of the mouth" EXACT [] synonym: "oral cavity mucosal damage" EXACT [] synonym: "oral mucosa irritation" EXACT [] synonym: "oral mucosal damage" EXACT [] synonym: "oral mucosal injury" EXACT [] synonym: "oral mucosal lesions" EXACT [] synonym: "stomatitis" EXACT [] xref: MeSH:D013280 is_a: EFO:1001898 ! mucositis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001905 name: oxidative stress def: "A disturbance in the prooxidant-antioxidant balance in favor of the former, leading to potential damage. Indicators of oxidative stress include damaged DNA bases, protein oxidation products, and lipid peroxidation products (Sies, Oxidative Stress, 1991, pxv-xvi)." [] xref: MedDRA:10080562 xref: MeSH:D018384 is_a: GO:0044237 ! cellular metabolic process property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001906 name: panic disorder with agoraphobia def: "A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is a component of this disorder." [NCIT:C97194] synonym: "panic disorder with agoraphobia" EXACT [NCIT:C97194] synonym: "panic disorder with agoraphobia" EXACT [] {comment="preferred label from MONDO"} xref: MedDRA:10052794 xref: MONDO:0044144 xref: NCIT:C97194 {source="MONDO:equivalentTo"} xref: NCIt:C97194 xref: SCTID:35607004 {source="MONDO:equivalentTo"} xref: UMLS:C0236800 xref: Wikipedia:Panic_disorder is_a: EFO:0004262 ! panic disorder is_a: EFO:1001872 ! agoraphobia intersection_of: EFO:0004262 ! panic disorder intersection_of: EFO:1001872 ! agoraphobia property_value: exactMatch http://identifiers.org/snomedct/35607004 property_value: exactMatch NCIT:C97194 property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001907 name: panic disorder without agoraphobia def: "A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is not a component of this disorder." [] xref: MedDRA:10033668 is_a: EFO:0004262 ! panic disorder property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001908 name: phobic disorder def: "A pathological anxiety characterized by fear or anxiety triggered by a specific stimulus or situation." [] def: "An anxiety disorder characterized by an intense, irrational fear of an object, activity, or situation. The individual seeks to avoid the object, activity, or situation. In adults, the individual recognizes that the fear is excessive or unreasonable." [NCIT:P378] synonym: "phobia" EXACT [NCIT:C35420] synonym: "phobias" EXACT [] synonym: "phobic disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "phobic disorders" EXACT [] xref: DOID:591 {source="MONDO:equivalentTo"} xref: ICD10:F40 xref: ICD9:300.2 {source="DOID:591"} xref: ICD9:300.20 {source="DOID:591"} xref: MedDRA:10034919 xref: MESH:D010698 {source="MONDO:equivalentTo", source="DOID:591"} xref: MeSH:D010698 xref: MONDO:0003699 xref: NCIT:C35420 {source="MONDO:equivalentTo", source="DOID:591"} xref: NCIt:C35420 xref: SCTID:386810004 {source="MONDO:equivalentTo", source="DOID:591"} xref: UMLS:C0349231 xref: Wikipedia:Phobia is_a: EFO:0006788 {source="DOID:591", source="EFO:1001908", source="MESH:D010698", source="NCIT:C35420"} ! anxiety disorder property_value: exactMatch DOID:591 property_value: exactMatch http://identifiers.org/mesh/D010698 property_value: exactMatch http://identifiers.org/snomedct/386810004 property_value: exactMatch NCIT:C35420 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001909 name: Plantar Fasciitis def: "Inflammation of the plantar fascia (aponeurosis) on the bottom of the foot causing heel pain. The etiology of plantar fasciitis remains controversial but is likely to involve a biomechanical imbalance. Though often presenting along with HEEL SPUR, they do not appear to be causally related." [] synonym: "Chronic Plantar Fasciitis" EXACT [] synonym: "Heel Spur Syndrome" EXACT [] synonym: "Plantar Heel Spur" EXACT [] synonym: "Plantar Heel Spurs" EXACT [] synonym: "Policeman's Heel" EXACT [] xref: MedDRA:10035155 xref: MeSH:D036981 is_a: HP:0100537 ! Fasciitis property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001910 name: pulmonary amyloidosis def: "Amyloidosis is characterized by amyloid extracellular deposition in organs and tissues. Pulmonary involvement is a rare manifestation of the disease and it can be focal or as part of systemic amyloidosis. [PMID:26574992]" [] synonym: "amyloidosis of the lung" EXACT [] xref: MedDRA:10063945 is_a: EFO:0003818 ! lung disease is_a: EFO:1001874 ! amyloidoma property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001911 name: pulmonary nodular amyloidosis def: "Nodular pulmonary amyloidosis, also known as nodular parenchymal amyloidosis or nodular amyloidoma, is defined as 1 or more tumefactive amyloid deposits involving the lungs. [PMID:28134587]" [] synonym: "nodular amyloidoma" EXACT [] synonym: "nodular parenchymal amyloidosis" EXACT [] synonym: "nodular pulmonary amyloidosis" EXACT [] synonym: "single nodular pulmonary Amyloidosis" EXACT [] is_a: EFO:1001910 ! pulmonary amyloidosis property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001913 name: Purpura Fulminans def: "A severe, rapidly fatal reaction occurring most commonly in children following an infectious illness. It is characterized by large, rapidly spreading skin hemorrhages, fever, or shock." [] synonym: "purpura gangrenosa" EXACT [] xref: MedDRA:10037556 xref: MESH:D055665 xref: SNOMEDCT:13507004 is_a: HP:0000979 ! Purpura property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001914 name: radiation-induced gastrointestinal mucositis def: "inflammation and ulceration of the gastrointestinal mucosa as a result of radiation treatment" [] synonym: "gastrointestinal radiation injury" EXACT [] synonym: "intestinal radiation-induced injury" EXACT [] synonym: "ionising radiation-induced duodenal injury" EXACT [] synonym: "ionising-radiation-induced gastrointestinal syndrome" EXACT [] synonym: "ionizing-radiation-induced gastrointestinal syndrome" EXACT [] synonym: "radiation-induced acute gastrointestinal syndrome" EXACT [] synonym: "radiation-induced gastrointestinal damage" EXACT [] synonym: "radiation-induced gastrointestinal injury" EXACT [] synonym: "radiation-induced gastrointestinal syndrome" EXACT [] synonym: "radiation-induced gastrointestinal syndrome (RIGS)" EXACT [] synonym: "radiation-induced GI syndrome" EXACT [] synonym: "radiation-induced GI syndrome (RIGS)" EXACT [] synonym: "radiation-induced intestinal injury" EXACT [] synonym: "radiation-mediated gastrointestinal (GI) toxicity" EXACT [] synonym: "radiotherapy-induced gut toxicity" EXACT [] synonym: "radiotherapy-induced gut toxicity (RIGT)" EXACT [] is_a: EFO:1001891 ! gastrointestinal mucositis property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001915 name: obsolete_Renal nutcracker syndrome def: "Renal nutcracker syndrome (NCS) is a condition that occurs when the left renal vein (the vein that carries blood purified by the left kidney) becomes compressed. The signs and symptoms of the condition can vary from person to person. Some affected people may be asymptomatic while others develop severe and persistent symptoms. When present, features of NCS may include blood in the urine (hematuria), orthostatic proteinuria, flank pain and/or abdominal pain. Some cases of mild NCS in children may be due to changes in body proportions associated with growth. Why NCS occurs or becomes symptomatic in adults is less clear. Treatment ranges from surveillance to surgical intervention and is based on the severity of symptoms and their expected reversibility when considering the affected person's age and stage of the syndrome." [] synonym: "Left renal vein entrapment syndrome" EXACT [] synonym: "NCS" EXACT [] synonym: "nutcracker syndrome" EXACT [] synonym: "Renal Nutcracker Phenomenon" EXACT [] synonym: "RNS" EXACT [] xref: MeSH:D059228 xref: ORDO:Orphanet_71273 property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "duplication" xsd:string property_value: IAO:0000117 "Gautier Koscielny" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_1001838 [Term] id: EFO:1001916 name: separation anxiety disorder def: "An anxiety disorder characterized by recurrent excessive distress due to fear of separation from the home or from major attachment figures; the distress is developmentally inappropriate and causes impairment in social, academic, or other areas of functioning." [NCIT:C35014] def: "Separation anxiety disorder (SAD), is an anxiety disorder in which an individual experiences excessive anxiety regarding separation from home or from people to whom the individual has a strong emotional attachment (e.g. a parent, caregiver, significant other or siblings)." [] synonym: "adult separation anxiety" EXACT [] synonym: "adult separation anxiety disorder" EXACT [] synonym: "Adult-Onset Separation Anxiety Disorder" EXACT [] synonym: "childhood separation anxiety" EXACT [] synonym: "childhood separation anxiety disorder" EXACT [] synonym: "Children's separation anxiety" EXACT [] synonym: "Pediatric-Onset Separation Anxiety Disorder" EXACT [] synonym: "SAD" EXACT [] synonym: "separation anxiety" EXACT [] synonym: "separation anxiety disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "separation anxiety in childhood" EXACT [] xref: DOID:10685 {source="MONDO:equivalentTo"} xref: MedDRA:10040045 xref: MESH:D001010 {source="MONDO:equivalentTo"} xref: MeSH:D001010 xref: MONDO:0001098 xref: NCIT:C35014 {source="MONDO:equivalentTo"} xref: NCIt:C35014 xref: SCTID:11806006 {source="MONDO:equivalentTo"} xref: UMLS:C1527281 xref: Wikipedia:Separation_anxiety_disorder is_a: EFO:0006788 {source="DOID:10685", source="EFO:1001916", source="MESH:D001010"} ! anxiety disorder property_value: exactMatch DOID:10685 property_value: exactMatch http://identifiers.org/mesh/D001010 property_value: exactMatch http://identifiers.org/snomedct/11806006 property_value: exactMatch NCIT:C35014 property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001917 name: social anxiety disorder def: "An anxiety disorder characterized by an intense, irrational fear of one or more social or performance situations in which the individual believes that he or she will be scrutinized by others. Exposure to social situations immediately provokes an anxiety response. In adults, the social phobia is recognized as excessive or unreasonable." [NCIT:P378] def: "Social anxiety disorder (SAD), also known as social phobia, is an anxiety disorder characterized by a significant amount of fear in one or more social situations causing considerable distress and impaired ability to function in at least some parts of daily life." [] synonym: "SAD" EXACT [] synonym: "social anxiety" EXACT [] synonym: "social anxiety disorder" EXACT [NCIT:C34927] synonym: "social phobia" EXACT [] {comment="preferred label from MONDO"} xref: DOID:11257 {source="MONDO:equivalentTo"} xref: ICD9:300.23 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11257"} xref: MedDRA:10041242 xref: MESH:D000072861 {source="MONDO:equivalentTo"} xref: MeSH:D000072861 xref: MONDO:0001247 xref: NCIT:C34927 {source="MONDO:equivalentTo", source="DOID:11257"} xref: NCIt:C34927 xref: SCTID:25501002 {source="MONDO:equivalentTo", source="DOID:11257"} xref: UMLS:C34927 xref: Wikipedia:Social_anxiety_disorder is_a: EFO:1001908 {source="DOID:11257", source="EFO:1001917", source="NCIT:C34927"} ! phobic disorder property_value: exactMatch DOID:11257 property_value: exactMatch http://identifiers.org/mesh/D000072861 property_value: exactMatch http://identifiers.org/snomedct/25501002 property_value: exactMatch NCIT:C34927 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001918 name: specific phobia def: "A specific phobia is any kind of anxiety disorder that amounts to an unreasonable or irrational fear related to exposure to specific objects or situations. As a result, the affected person tends to actively avoid direct contact with the objects or situations and, in severe cases, any mention or depiction of them. The fear can, in fact, be disabling to their daily lives." [] def: "An anxiety disorder characterized by an intense, irrational fear cued by the presence or anticipation of a specific object or situation. Exposure to the phobic stimulus immediately provokes an anxiety response. In adults, the specific phobia is recognized as excessive or unreasonable." [NCIT:P378] synonym: "phobia, simple" RELATED [OMIM:608251] synonym: "phobia, specific" RELATED [OMIM:608251] synonym: "simple phobia" EXACT [DOID:599] synonym: "SimpP" EXACT [] synonym: "specific phobia" EXACT [] {comment="preferred label from MONDO"} xref: DOID:599 {source="MONDO:equivalentTo"} xref: ICD9:300.29 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10041446 xref: MESH:C562465 {source="DOID:599", source="MONDO:equivalentTo"} xref: MONDO:0012000 xref: NCIT:C35284 {source="DOID:599", source="MONDO:equivalentTo"} xref: NCIt:C35284 xref: OMIM:608251 {source="DOID:599", source="MONDO:equivalentTo"} xref: SCTID:54587008 {source="DOID:599", source="MONDO:equivalentTo"} xref: UMLS:C0236801 xref: Wikipedia:Specific_phobia is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: EFO:1001908 {source="DOID:599", source="EFO:1001918", source="MESH:C562465", source="NCIT:C35284"} ! phobic disorder property_value: exactMatch DOID:599 property_value: exactMatch http://identifiers.org/mesh/C562465 property_value: exactMatch http://identifiers.org/snomedct/54587008 property_value: exactMatch https://omim.org/entry/608251 property_value: exactMatch NCIT:C35284 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001919 name: Spinal cord injury def: "Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces." [] synonym: "Post-Traumatic Myelopathy" EXACT [] synonym: "SCI" EXACT [] synonym: "Spinal Cord Contusion" EXACT [] synonym: "Spinal Cord Injuries" EXACT [] synonym: "Spinal Cord Laceration" EXACT [] synonym: "Spinal Cord Transection" EXACT [] synonym: "Spinal Cord Trauma" EXACT [] synonym: "Traumatic Myelopathy" EXACT [] xref: MedDRA:10041552 xref: MeSH:D013119 is_a: EFO:0009490 ! nervous system injury property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001920 name: stress-induced anxiety-like behavior synonym: "stress induced anxiety behavior" EXACT [] synonym: "stress-induced anxiety behavior" EXACT [] is_a: GO:0007610 ! behavior property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001922 name: tracheobronchial amyloidosis def: "Tracheobronchial amyloidosis is characterized by amyloid deposition in various segments of the tracheobronchial tree. Most cases represent localized AL amyloidosis and are restricted to the tracheobronchial tree. [PMID:28134587]" [] is_a: EFO:1001910 ! pulmonary amyloidosis property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001923 name: varicose ulcer def: "Skin breakdown or ulceration in the drainage area of a VARICOSE VEIN, usually in the leg." [] synonym: "Stasis Ulcer" EXACT [] synonym: "Venous Hypertension Ulcers" EXACT [] synonym: "Venous Stasis Ulcers" EXACT [] synonym: "Venous Ulcer" EXACT [] is_a: HP:0002619 ! Varicose veins property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001925 name: pneumococcal bacteremia def: "Presence of pneumococcus bacteria in the blood" [] xref: MedDRA:10058886 is_a: EFO:0003033 ! bacteriemia property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1001926 name: pathological gambling def: "A disorder characterized by a preoccupation with gambling and the excitement that gambling with increasing risk provides. Pathological gamblers are unable to cut back on their gambling, despite the fact that it may lead them to lie, steal, or lose a significant relationship, job, or educational opportunity." [NCIT:P378] def: "An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life. [url:http://www.forensicpsychiatry.ca/impulse/gambling.htm ]" [] synonym: "compulsive gambling" EXACT [DOID:12399] synonym: "gambling, pathologic" RELATED [OMIM:606349] synonym: "pathological gambling" EXACT [DOID:12399] synonym: "pathological gambling" EXACT [] {comment="preferred label from MONDO"} xref: DOID:12399 {source="MONDO:equivalentTo"} xref: ICD10CM:F63.0 {source="MONDO:equivalentTo", source="DOID:12399"} xref: ICD9:312.31 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12399"} xref: ICD9CM:312.31 xref: MedDRA:10034158 xref: MESH:D005715 {source="MONDO:equivalentTo", source="DOID:12399"} xref: MeSH:D005715 xref: MONDO:0011662 xref: NCIT:C94335 {source="MONDO:equivalentTo", source="DOID:12399"} xref: NCIt:C94335 xref: OMIM:606349 {source="MONDO:equivalentTo", source="DOID:12399"} xref: SCTID:18085000 {source="MONDO:equivalentTo", source="DOID:12399"} xref: UMLS:C0030662 is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: EFO:0000677 ! mental or behavioural disorder is_a: MONDO:0001162 {source="DOID:12399", source="NCIT:C94335"} ! impulse control disorder relationship: IAO:0000136 EFO:0004699 ! is_about gambling behaviour property_value: exactMatch DOID:12399 property_value: exactMatch http://identifiers.org/mesh/D005715 property_value: exactMatch http://identifiers.org/snomedct/18085000 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/F63.0 property_value: exactMatch https://omim.org/entry/606349 property_value: exactMatch NCIT:C94335 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1001927 name: cutaneous squamous cell carcinoma def: "squameous cell carcinoma of the skin, representing the second most common cutaneous malignancy, behind only basal cell carcinoma in Caucasians" [] is_a: EFO:0000707 ! squamous cell carcinoma property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001928 name: small intestine neuroendocrine tumor def: "A neoplasm with neuroendocrine differentiation that arises from the small intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." [NCIT:C5803] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:423975"} synonym: "NET of the small intestine" EXACT [Orphanet:423975] synonym: "neuroendocrine neoplasm of small intestine" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm] synonym: "neuroendocrine neoplasm of the small intestine" EXACT [Orphanet:423975] synonym: "neuroendocrine tumor of small bowel" EXACT [Orphanet:423975] synonym: "neuroendocrine tumor of the small intestine" RELATED [Orphanet:423975] synonym: "neuroendocrine tumour of small bowel" EXACT OMO:0003005 [] synonym: "neuroendocrine tumour of the small intestine" RELATED OMO:0003005 [] synonym: "small intestinal neuroendocrine neoplasm" EXACT [NCIT:C5803] synonym: "small intestine NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "small intestine neuroendocrine neoplasm" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "small intestine neuroendocrine neoplasm" EXACT [MONDO:patterns/location, NCIT:C5803] synonym: "small intestine neuroendocrine neoplasm" EXACT [] {comment="preferred label from MONDO"} synonym: "small intestine neuroendocrine tumor" EXACT [DOID:4434, MONDO:patterns/neuroendocrine_neoplasm] synonym: "small intestine neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "small intestine neuroendocrine tumor, well differentiated, low or intermediate grade" RELATED [MONDO:patterns/neuroendocrine_neoplasm] synonym: "small intestine neuroendocrine tumour" EXACT OMO:0003005 [] xref: DOID:4434 {source="MONDO:equivalentTo"} xref: MONDO:0018510 xref: NCIT:C5803 {source="DOID:4434", source="MONDO:equivalentTo"} xref: Orphanet:423975 {source="MONDO:equivalentTo"} xref: UMLS:C1336005 {source="DOID:4434", source="MONDO:equivalentTo", source="NCIT:C5803"} xref: UMLS:CN237515 {source="MONDO:equivalentTo"} is_a: MONDO:0002883 {source="DOID:4434", source="MONDO:Redundant", source="NCIT:C5803"} ! intestinal neuroendocrine neoplasm is_a: MONDO:0004251 {source="DOID:4434", source="MONDO:0018539-obsoleted", source="MONDO:Redundant", source="NCIT:C5803"} ! small intestine neoplasm property_value: exactMatch DOID:4434 property_value: exactMatch DOID:4434 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237515 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237515 property_value: exactMatch NCIT:C5803 property_value: exactMatch NCIT:C5803 property_value: exactMatch Orphanet:423975 property_value: excluded_subClassOf MONDO:0000956 {source="DOID:4434"} property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml property_value: http://purl.org/dc/terms/conformsTo neuroendocrine:neoplasm.yaml [Term] id: EFO:1001929 name: selective IgA deficiency disease def: "A dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class A (IgA). It is the most common primary antibody deficiency. It may be inherited or the reversible sequela of infection or certain drugs. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Though affected persons may be asymptomatic, low levels of IgA will reduce the immune system's ability to combat infection where IgA is normally secreted, at mucosal surfaces. Selective IgA deficiency is seen in greater proportion among patients with autoimmune disorders." [NCIT:C26964] def: "A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract." [] synonym: "deficiencies, IgA" RELATED [MESH:D017098] synonym: "deficiency, IgA" RELATED [MESH:D017098] synonym: "gamma-A-globulin deficiency" EXACT [DOID:0060025] synonym: "IgA deficiencies" RELATED [MESH:D017098] synonym: "IgA deficiency" EXACT [DOID:0060025] synonym: "immunoglobulin A deficiency" EXACT [MONDO:0000048] synonym: "immunoglobulin A deficiency (disorder)" EXACT [] synonym: "immunoglobulin alpha deficiency" RELATED [DOID:0060025] synonym: "selective IgA deficiency disease" EXACT [] {comment="preferred label from MONDO"} synonym: "selective IgA Immunodeficiency" EXACT [] synonym: "selective IgA immunodeficiency" EXACT [DOID:11701, ICD9CM:279.01, NCIT:C26964] synonym: "selective immunoglobulin A deficiency" EXACT [DOID:11701, Orphanet:69127] synonym: "selective immunoglobulin A deficiency (disorder)" EXACT [] synonym: "SIgAD" EXACT [Orphanet:69127] xref: DOID:0060025 {source="MONDO:equivalentTo"} xref: DOID:11701 {source="MONDO:equivalentTo"} xref: MESH:D017098 {source="DOID:11701", source="DOID:0060025", source="MONDO:equivalentTo"} xref: MeSH:D017098 xref: MONDO:0001341 xref: NCIT:C26964 {source="MONDO:equivalentTo"} xref: Orphanet:69127 {source="MONDO:equivalentObsolete", source="DOID:0060025"} xref: SCTID:29260007 {source="DOID:11701", source="DOID:0060025", source="MONDO:equivalentTo"} xref: UMLS:C0162538 {source="DOID:11701", source="DOID:0060025", source="MONDO:equivalentTo"} xref: UMLS:C4049006 {source="MONDO:equivalentTo", source="NCIT:C26964"} xref: Wikipedia:Selective_immunoglobulin_A_deficiency is_a: MONDO:0001342 {source="DOID:11701", source="MESH:D017098"} ! dysgammaglobulinemia property_value: exactMatch DOID:0060025 property_value: exactMatch DOID:11701 property_value: exactMatch http://identifiers.org/mesh/D017098 property_value: exactMatch http://identifiers.org/snomedct/29260007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162538 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4049006 property_value: exactMatch NCIT:C26964 property_value: excluded_subClassOf MONDO:0002211 {source="DOID:0060025"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001930 name: idiopathic osteonecrosis of the femoral head def: "Most common form of osteonecrosis, the death of bone tissue following microvascular injury. Osteonecrosis of the femoral head (ONFH) is a complex multifactorial disease that is associated with genetic predisposition and exposure to certain environmental factors. Various etiological factors, including the use of corticosteroids, alcohol abuse, sickle cell anemia, radiation and Gaucher disease, are known to be implicated in the development of secondary osteonecrosis." [] xref: PMID:28000841 is_a: EFO:0004259 ! osteonecrosis relationship: EFO:0000784 UBERON:0000981 ! has_disease_location femur property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001931 name: oropharynx cancer def: "A primary or metastatic malignant neoplasm that affects the oropharynx." [NCIT:C7398] synonym: "cancer of oropharynx" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of junctional region of oropharynx" EXACT [DOID:8557] synonym: "malignant neoplasm of lateral wall of oropharynx" EXACT [DOID:8557, MTH:U000704] synonym: "malignant neoplasm of oropharynx" EXACT [DOID:8557, MONDO:patterns/cancer, MTH:NOCODE, NCIT:C7398] synonym: "malignant neoplasm of posterior wall of oropharynx" EXACT [DOID:8557] synonym: "malignant neoplasm of the oropharynx" EXACT [NCIT:C7398] synonym: "malignant oropharyngeal neoplasm" EXACT [NCIT:C7398] synonym: "malignant oropharyngeal tumor" EXACT [DOID:8557, NCIT:C7398] synonym: "malignant oropharyngeal tumour" EXACT OMO:0003005 [] synonym: "malignant oropharynx neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of mesopharynx" EXACT [DOID:8557] synonym: "malignant tumor of oropharynx" EXACT [NCIT:C7398] synonym: "malignant tumor of posterior wall of oropharynx" EXACT [DOID:8557] synonym: "malignant tumor of the oropharynx" EXACT [NCIT:C7398] synonym: "malignant tumour of mesopharynx" EXACT [DOID:8557] synonym: "malignant tumour of mesopharynx" EXACT OMO:0003005 [] synonym: "malignant tumour of oropharynx" EXACT OMO:0003005 [] synonym: "malignant tumour of posterior wall of oropharynx" EXACT OMO:0003005 [] synonym: "malignant tumour of the oropharynx" EXACT OMO:0003005 [] synonym: "oropharyngeal cancer" EXACT [CSP2005:2013-1302, DOID:8557] synonym: "oropharyngeal cancer" EXACT [DOID:8557] synonym: "oropharyngeal carcinoma" EXACT [DOID:8557, NCIT:C9105] synonym: "oropharyngeal carcinoma" NARROW [DOID:8557, NCIT:C9105] synonym: "oropharynx cancer" EXACT [MONDO:patterns/location] synonym: "oropharynx cancer" EXACT [] {comment="preferred label from MONDO"} synonym: "oropharynx cancer" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "primary malignant neoplasm of lateral wall of oropharynx" EXACT [DOID:8557] xref: DOID:8557 {source="MONDO:equivalentTo"} xref: EFO:1001931 {source="MONDO:equivalentTo"} xref: GARD:0009358 {source="MONDO:equivalentTo"} xref: ICD10:C10 {source="DOID:8557", source="MONDO:equivalentTo"} xref: ICD10:C10.2 {source="DOID:8557"} xref: ICD10:C10.3 {source="DOID:8557"} xref: ICD10:C10.8 {source="DOID:8557"} xref: ICD10:C10.9 {source="DOID:8557"} xref: ICD10CM:C10 {source="DOID:8557", source="MONDO:equivalentTo"} xref: ICD9:146 {source="DOID:8557"} xref: ICD9:146.5 {source="DOID:8557"} xref: ICD9:146.6 {source="DOID:8557"} xref: ICD9:146.7 {source="DOID:8557"} xref: ICD9:146.9 {source="DOID:8557"} xref: MedDRA:10031096 xref: MESH:D009959 {source="MONDO:equivalentTo"} xref: MONDO:0004608 xref: NCIT:C7398 {source="DOID:8557", source="MONDO:equivalentTo"} xref: UMLS:C0153382 {source="NCIT:C7398", source="DOID:8557", source="MONDO:equivalentTo"} xref: UMLS:C0153389 {source="DOID:8557", source="MONDO:equivalentTo"} xref: UMLS:C0153390 {source="DOID:8557", source="MONDO:equivalentTo"} xref: UMLS:C2349952 {source="MONDO:equivalentTo"} xref: UMLS:C3165521 {source="MONDO:equivalentTo"} is_a: EFO:0005577 {source="DOID:8557", source="EFO:1001931", source="MESH:D009959", source="MONDO:Redundant", source="NCIT:C7398"} ! pharynx cancer is_a: MONDO:0021364 {source="MONDO:Redundant", source="NCIT:C7398"} ! neoplasm of oropharynx property_value: closeMatch http://identifiers.org/snomedct/187686007 property_value: closeMatch http://identifiers.org/snomedct/187688008 property_value: closeMatch http://identifiers.org/snomedct/187691008 property_value: closeMatch http://identifiers.org/snomedct/363392002 property_value: closeMatch http://identifiers.org/snomedct/373653002 property_value: closeMatch http://identifiers.org/snomedct/448868009 property_value: closeMatch http://identifiers.org/snomedct/93933005 property_value: closeMatch http://identifiers.org/snomedct/93971002 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153388 property_value: exactMatch DOID:8557 property_value: exactMatch DOID:8557 property_value: exactMatch http://identifiers.org/mesh/D009959 property_value: exactMatch http://identifiers.org/mesh/D009959 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153382 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153382 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153389 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153389 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153390 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153390 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2349952 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2349952 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3165521 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3165521 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/C10 property_value: exactMatch NCIT:C7398 property_value: exactMatch NCIT:C7398 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/cancer.yaml [Term] id: EFO:1001932 name: adult acute megakaryoblastic leukemia def: "An acute megakaryoblastic leukemia occurring in adults." [] synonym: "Adult Acute M7 Leukemia" EXACT [] synonym: "Adult Acute Megakaryocytic Leukemia" EXACT [] synonym: "Adult Acute Megakaryocytic Leukemia (M7)" EXACT [] synonym: "M7 Adult Acute Leukemia" EXACT [] synonym: "M7 Adult Acute Megakaryocytic Leukemia" EXACT [] xref: NCIt:C7965 is_a: EFO:0003025 ! acute megakaryoblastic leukaemia is_a: EFO:0010283 ! blood disease property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:1001933 name: adult acute monocytic leukemia def: "A acute monocytic leukemia that occurs in an adult." [MONDO:design_pattern] synonym: "acute monocytic leukaemia" BROAD OMO:0003005 [] synonym: "acute monocytic leukaemia of adults" EXACT OMO:0003005 [] synonym: "acute monocytic leukemia" BROAD [NCIT:C8263] synonym: "acute monocytic leukemia" EXACT [NCIT:C8263] synonym: "acute monocytic leukemia of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] synonym: "adult acute differentiated monocytic leukaemia (M5b)" EXACT OMO:0003005 [] synonym: "adult acute differentiated monocytic leukemia (M5b)" EXACT [NCIT:C8263] synonym: "adult acute monocytic leukemia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "adult acute monocytic leukemia" EXACT [NCIT:C8263] synonym: "adult acute monocytic leukemia" EXACT [] {comment="preferred label from MONDO"} synonym: "M5b adult acute differentiated monocytic leukaemia" EXACT OMO:0003005 [] synonym: "M5b adult acute differentiated monocytic leukemia" EXACT [NCIT:C8263] synonym: "M5b adult acute leukaemia" EXACT OMO:0003005 [] synonym: "M5b adult acute leukemia" EXACT [NCIT:C8263] xref: DOID:0080149 {source="MONDO:equivalentTo"} xref: MONDO:0000875 xref: NCIT:C8263 {source="MONDO:equivalentTo", source="DOID:0080149"} xref: UMLS:C0280634 {source="MONDO:equivalentTo", source="NCIT:C8263"} is_a: EFO:0000221 {source="DOID:0080149", source="MONDO:Redundant", source="NCIT:C8263"} ! acute monocytic leukemia is_a: EFO:0010283 ! blood disease property_value: exactMatch DOID:0080149 property_value: exactMatch DOID:0080149 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280634 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280634 property_value: exactMatch NCIT:C8263 property_value: exactMatch NCIT:C8263 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/adult.yaml [Term] id: EFO:1001934 name: adult acute myeloid leukemia def: "An acute myeloid leukemia occurring in adults." [] synonym: "Adult Acute Granulocytic Leukemia" EXACT [] synonym: "Adult Acute Myeloblastic Leukemia" EXACT [] synonym: "Adult Acute Myelocytic Leukemia" EXACT [] synonym: "Adult Acute Myelogenous Leukemia" EXACT [] synonym: "Adult Acute Non-Lymphoblastic Leukemia" EXACT [] synonym: "Adult Acute Non-Lymphocytic Leukemia" EXACT [] xref: NCIt:C9154 is_a: EFO:0000222 ! acute myeloid leukemia is_a: EFO:0010283 ! blood disease property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:1001935 name: adult B acute lymphoblastic leukemia def: "An acute B-lymphoblastic leukemia occurring in adults." [NCIT:P378] synonym: "adult B acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "adult B acute lymphoblastic leukemia" EXACT [DOID:0060592] synonym: "adult B cell acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "adult B cell acute lymphoblastic leukemia" EXACT [NCIT:C9143] synonym: "adult B cell acute lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "adult B cell acute lymphocytic leukemia" EXACT [NCIT:C9143] synonym: "adult B cell ALL" EXACT [NCIT:C9143] synonym: "adult B-cell acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "adult B-cell acute lymphoblastic leukemia" EXACT [DOID:0060592] synonym: "adult B-cell acute lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "adult B-cell acute lymphocytic leukemia" EXACT [NCIT:C9143] synonym: "adult B-cell ALL" EXACT [NCIT:C9143] synonym: "adult B-cell childhood acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "adult B-cell childhood acute lymphoblastic leukemia" EXACT [MONDO:design_pattern] synonym: "adult B-cell lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "adult B-cell lymphocytic leukemia" EXACT [DOID:0060592] synonym: "adult B-lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "adult B-lymphoblastic leukemia" EXACT [DOID:0060592] synonym: "adult precursor B-lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "adult precursor B-lymphoblastic leukemia" EXACT [NCIT:C9143] synonym: "B acute lymphoblastic leukaemia" BROAD OMO:0003005 [] synonym: "B acute lymphoblastic leukemia" BROAD [NCIT:C9143] synonym: "B cell adult acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "B cell adult acute lymphoblastic leukemia" EXACT [NCIT:C9143] synonym: "B cell adult acute lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "B cell adult acute lymphocytic leukemia" EXACT [NCIT:C9143] synonym: "B cell adult ALL" EXACT [NCIT:C9143] synonym: "B-cell adult acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "B-cell adult acute lymphoblastic leukemia" EXACT [NCIT:C9143] synonym: "B-cell adult acute lymphocytic leukemia" EXACT [] {comment="preferred label from MONDO"} synonym: "B-cell adult acute lymphocytic leukemia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "B-cell adult ALL" EXACT [NCIT:C9143] synonym: "B-cell childhood acute lymphoblastic leukaemia of adults" EXACT OMO:0003005 [] synonym: "B-cell childhood acute lymphoblastic leukemia of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: DOID:0060592 {source="MONDO:equivalentTo"} xref: EFO:1001935 {source="MONDO:equivalentTo"} xref: MONDO:0000814 xref: NCIT:C9143 {source="MONDO:equivalentTo", source="DOID:0060592"} xref: UMLS:C0279593 {source="MONDO:equivalentTo", source="NCIT:C9143"} is_a: EFO:1001946 ! childhood B acute lymphoblastic leukemia is_a: MONDO:0003541 {source="DOID:0060592", source="NCIT:C9143"} ! adult acute lymphoblastic leukemia is_a: MONDO:0020511 {source="MONDO:0000814/inferred", source="NCIT:C9143"} ! precursor B-cell acute lymphoblastic leukemia property_value: exactMatch DOID:0060592 property_value: exactMatch DOID:0060592 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279593 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279593 property_value: exactMatch NCIT:C9143 property_value: exactMatch NCIT:C9143 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/adult.yaml [Term] id: EFO:1001936 name: adult T acute lymphoblastic leukemia def: "An acute T-lymphoblastic leukemia occurring in adults." [NCIT:P378] synonym: "acute Adult T-cell Leukemia-lymphoma" EXACT [DOID:5602] synonym: "adult acute lymphoblastic leukaemia of T cell" EXACT OMO:0003005 [] synonym: "adult acute lymphoblastic leukemia of T cell" EXACT [MONDO:design_pattern] synonym: "adult precursor T lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "adult precursor T lymphoblastic leukemia" EXACT [DOID:5602, NCIT:C9142] synonym: "adult precursor T-lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "adult precursor T-lymphoblastic leukemia" EXACT [NCIT:C9142] synonym: "adult T acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "adult T acute lymphoblastic leukemia" EXACT [NCIT:C9142] synonym: "adult T-cell acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "adult T-cell acute lymphoblastic leukemia" EXACT [NCIT:C9142] synonym: "T Acute Lymphoblastic Leukaemia" EXACT OMO:0003005 [] synonym: "T Acute Lymphoblastic Leukemia" EXACT [NCIT:C9142] synonym: "T cell adult acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "T cell adult acute lymphoblastic leukemia" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "T cell adult acute lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "T cell adult acute lymphocytic leukemia" EXACT [MONDO:patterns/location] synonym: "T cell adult ALL" EXACT [NCIT:C9142] synonym: "T-cell adult acute lymphocytic leukemia" EXACT [] {comment="preferred label from MONDO"} synonym: "T-cell adult acute lymphocytic leukemia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "T-cell adult ALL" EXACT [NCIT:C9142] xref: DOID:5602 {source="MONDO:equivalentTo"} xref: EFO:1001936 {source="MONDO:equivalentTo"} xref: MONDO:0003539 xref: NCIT:C9142 {source="MONDO:equivalentTo", source="DOID:5602"} xref: UMLS:C0279592 {source="MONDO:equivalentTo", source="DOID:5602", source="NCIT:C9142"} is_a: EFO:0010283 ! blood disease is_a: MONDO:0003540 ! acute T cell leukemia is_a: MONDO:0003541 {source="DOID:5602", source="MONDO:Redundant", source="NCIT:C9142"} ! adult acute lymphoblastic leukemia property_value: exactMatch DOID:5602 property_value: exactMatch DOID:5602 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279592 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279592 property_value: exactMatch NCIT:C9142 property_value: exactMatch NCIT:C9142 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:1001937 name: amelanotic melanoma def: "A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction." [NCIT:C3802] synonym: "amelanotic melanoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "amelanotic melanoma" EXACT [DOID:4359, MESH:D018328, NCIT:C3802] synonym: "amelanotic melanoma" EXACT [] {comment="preferred label from MONDO"} synonym: "amelanotic melanoma (morphologic abnormality)" EXACT [DOID:4359] synonym: "amelanotic melanomas" RELATED [MESH:D018328] synonym: "melanoma, amelanotic, malignant" EXACT [NCIT:C3802] synonym: "melanomas, amelanotic" RELATED [MESH:D018328] xref: DOID:4359 {source="MONDO:equivalentTo"} xref: EFO:1001937 {source="MONDO:equivalentTo"} xref: ICDO:8730/3 {source="NCIT:C3802"} xref: MESH:D018328 {source="MONDO:equivalentTo", source="DOID:4359"} xref: MONDO:0002971 xref: NCIT:C3802 {source="MONDO:equivalentTo", source="DOID:4359", source="exact-label-match"} xref: NCIT:C3802 {source="MONDO:equivalentTo", source="DOID:4359", source="MONDO:exact-label-match"} xref: UMLS:C0206735 {source="MONDO:equivalentTo", source="DOID:4359", source="NCIT:C3802"} is_a: EFO:0000756 {source="DOID:4359", source="EFO:1001937", source="MESH:D018328", source="NCIT:C3802"} ! melanoma property_value: closeMatch http://identifiers.org/snomedct/70594002 property_value: exactMatch DOID:4359 property_value: exactMatch DOID:4359 property_value: exactMatch http://identifiers.org/mesh/D018328 property_value: exactMatch http://identifiers.org/mesh/D018328 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206735 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206735 property_value: exactMatch NCIT:C3802 property_value: exactMatch NCIT:C3802 [Term] id: EFO:1001938 name: B-cell non-Hodgkins lymphoma def: "The most common type of non-Hodgkin lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003" [NCIT:C3457] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:171915"} synonym: "B-cell lymphoma" EXACT [NCIT:C3457] synonym: "B-cell NHL" EXACT [Orphanet:171915] synonym: "B-cell non Hodgkin's lymphoma" EXACT [NCIT:C3457] synonym: "B-cell non-Hodgkin lymphoma" EXACT [] {comment="preferred label from MONDO"} synonym: "B-cell non-Hodgkin lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "B-cell non-Hodgkin lymphoma" EXACT [NCIT:C3457] synonym: "B-cell non-Hodgkin's lymphoma" EXACT [NCIT:C3457] synonym: "lymphomas non-Hodgkin's B-cell" EXACT [NCIT:C3457] synonym: "non-Hodgkin's B-cell lymphoma" EXACT [NCIT:C3457] synonym: "non-Hodgkin's lymphoma B-cell" EXACT [NCIT:C3457] xref: MONDO:0015759 xref: NCIT:C3457 {source="MONDO:equivalentTo"} xref: Orphanet:171915 {source="MONDO:equivalentTo"} is_a: EFO:0005952 {source="MONDO:Redundant", source="NCIT:C3457", source="Orphanet:171915"} ! non-Hodgkins lymphoma is_a: EFO:0007352 ! lymphatic system disease is_a: MONDO:0004095 {source="MONDO:Redundant", source="NCIT:C3457"} ! B-cell neoplasm intersection_of: EFO:0005952 {source="NCIT:C3457"} ! non-Hodgkins lymphoma intersection_of: MONDO:0004095 {source="NCIT:C3457"} ! B-cell neoplasm property_value: exactMatch NCIT:C3457 property_value: exactMatch NCIT:C3457 property_value: exactMatch Orphanet:171915 [Term] id: EFO:1001939 name: Barrett adenocarcinoma def: "An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas. -- 2002" [NCIT:C7027] synonym: "adenocarcinoma arising in Barrett's mucosa" EXACT [DOID:7941, NCIT:C7027] synonym: "Barrett adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "Barrett adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "Barrett adenocarcinoma" EXACT [DOID:7941, NCIT:C7027] synonym: "Barrett's adenocarcinoma" EXACT [NCIT:C7027] xref: DOID:7941 {source="MONDO:equivalentTo"} xref: EFO:1001939 {source="MONDO:equivalentTo"} xref: MONDO:0004405 xref: NCIT:C7027 {source="DOID:7941", source="MONDO:equivalentTo"} xref: SCTID:721617001 {source="MONDO:equivalentTo"} xref: UMLS:C1332460 {source="DOID:7941", source="MONDO:equivalentTo", source="NCIT:C7027"} is_a: EFO:0000478 {source="DOID:7941", source="EFO:1001939", source="NCIT:C7027", source="NCIT:C7027/inferred"} ! esophageal adenocarcinoma property_value: exactMatch DOID:7941 property_value: exactMatch DOID:7941 property_value: exactMatch http://identifiers.org/snomedct/721617001 property_value: exactMatch http://identifiers.org/snomedct/721617001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332460 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332460 property_value: exactMatch NCIT:C7027 property_value: exactMatch NCIT:C7027 [Term] id: EFO:1001940 name: basaloid squamous cell carcinoma def: "A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading." [NCIT:C54244] synonym: "basaloid carcinoma" BROAD [DOID:5522, NCIT:C4121] synonym: "basaloid carcinoma" EXACT [DOID:5522, NCIT:C4121] synonym: "basaloid carcinoma (morphologic abnormality)" BROAD [DOID:5522] synonym: "basaloid carcinoma (morphologic abnormality)" EXACT [DOID:5522] synonym: "basaloid squamous cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "basaloid squamous cell carcinoma" EXACT [NCIT:C54244] synonym: "basaloid squamous cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "basaloid squamous cell carcinoma (morphologic abnormality)" EXACT [DOID:5522] xref: DOID:5522 {source="MONDO:equivalentTo"} xref: ICDO:8083/3 {source="NCIT:C54244"} xref: MONDO:0003486 xref: NCIT:C54244 {source="DOID:5522", source="MONDO:equivalentTo"} xref: UMLS:C1266005 {source="DOID:5522", source="MONDO:equivalentTo", source="NCIT:C54244"} is_a: EFO:0000707 {source="DOID:5522", source="NCIT:C54244"} ! squamous cell carcinoma is_a: EFO:1000105 {source="NCIT:C54244"} ! Basaloid Carcinoma property_value: closeMatch http://identifiers.org/snomedct/128634009 property_value: exactMatch DOID:5522 property_value: exactMatch DOID:5522 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266005 property_value: exactMatch NCIT:C54244 property_value: exactMatch NCIT:C54244 [Term] id: EFO:1001941 name: bronchioloalveolar carcinoma def: "A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion." [] synonym: "Bronchioalveolar Adenocarcinoma of Lung" EXACT [] synonym: "Bronchioalveolar Lung Carcinoma" EXACT [] synonym: "Bronchiolo-Alveolar Carcinoma of Lung" EXACT [] synonym: "Bronchiolo-Alveolar Lung Carcinoma" EXACT [] synonym: "Bronchioloalveolar Adenocarcinoma of Lung" EXACT [] xref: MedDRA:10058354 xref: NCIt:C2923 is_a: EFO:0000571 ! lung adenocarcinoma property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:1001942 name: bronchogenic carcinoma def: "A lung carcinoma arising from the bronchial epithelium." [NCIT:C35875] synonym: "BC - bronchogenic carcinoma" EXACT [DOID:3904] synonym: "bronchial carcinoma" EXACT [NCIT:C35875] synonym: "bronchiogenic carcinoma" EXACT [NCIT:C35875] synonym: "bronchogenic carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "bronchogenic carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "bronchogenic carcinoma" EXACT [NCIT:C35875] synonym: "bronchogenic lung cancer" EXACT [NCIT:C35875] synonym: "bronchogenic lung carcinoma" EXACT [NCIT:C35875] synonym: "bronchus carcinoma" EXACT [MONDO:patterns/location] synonym: "carcinoma of bronchus" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma, bronchial, malignant" EXACT [NCIT:C35875] xref: CSP:2017-6052 {source="DOID:3904"} xref: DOID:3904 {source="MONDO:equivalentTo"} xref: EFO:1001942 {source="MONDO:equivalentTo"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D002283 {source="MONDO:equivalentTo", source="DOID:3904"} xref: MONDO:0002806 xref: NCIT:C35875 {source="MONDO:equivalentTo", source="DOID:3904"} xref: SCTID:254622008 {source="MONDO:equivalentTo", source="DOID:3904"} xref: UMLS:C0007121 {source="MONDO:equivalentTo", source="NCIT:C35875", source="DOID:3904"} is_a: EFO:0001071 {source="EFO:1001942", source="NCIT:C35875"} ! lung carcinoma is_a: MONDO:0001672 {source="DOID:3904", source="MONDO:Redundant"} ! bronchus cancer property_value: closeMatch http://identifiers.org/snomedct/154485001 property_value: closeMatch http://identifiers.org/snomedct/269561006 property_value: exactMatch DOID:3904 property_value: exactMatch DOID:3904 property_value: exactMatch http://identifiers.org/mesh/D002283 property_value: exactMatch http://identifiers.org/mesh/D002283 property_value: exactMatch http://identifiers.org/snomedct/254622008 property_value: exactMatch http://identifiers.org/snomedct/254622008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007121 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007121 property_value: exactMatch NCIT:C35875 property_value: exactMatch NCIT:C35875 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:1001943 name: childhood acute megakaryoblastic leukemia def: "An acute megakaryoblastic leukemia occurring in children." [] synonym: "Childhood Acute M7 Leukemia" EXACT [] synonym: "Childhood Acute Megakaryocytic Leukemia" EXACT [] synonym: "Childhood AMKL" EXACT [] synonym: "M7 Childhood Acute Megakaryocytic Leukemia" EXACT [] synonym: "M7 Pediatric Acute Megakaryocytic Leukemia" EXACT [] synonym: "Pediatric Acute Megakaryoblastic Leukemia" EXACT [] synonym: "Pediatric Acute Megakaryocytic Leukemia" EXACT [] xref: NCIt:C7972 is_a: EFO:0003025 ! acute megakaryoblastic leukaemia is_a: EFO:0010283 ! blood disease property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:1001944 name: childhood acute monocytic leukemia def: "An acute monocytic leukemia occurring in children." [] synonym: "Childhood Acute Differentiated Monocytic Leukemia (M5b)" EXACT [] synonym: "Childhood Acute M5b Leukemia" EXACT [] synonym: "Childhood Acute Monocytic Leukemia with Differentiation" EXACT [] synonym: "M5b Childhood Acute Differentiated Monocytic Leukemia" EXACT [] synonym: "M5b Pediatric Acute Differentiated Monocytic Leukemia" EXACT [] synonym: "Pediatric Acute Differentiated Monocytic Leukemia" EXACT [] synonym: "Pediatric Acute M5b Leukemia" EXACT [] synonym: "Pediatric Acute Monocytic Leukemia with Differentiation" EXACT [] xref: NCIt:C9163 is_a: EFO:0000221 ! acute monocytic leukemia is_a: EFO:0010283 ! blood disease property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:1001945 name: childhood acute myeloid leukemia with maturation def: "An acute myeloid leukemia with maturation occurring in children." [] synonym: "Childhood Acute Granulocytic Leukemia with Maturation" EXACT [] synonym: "Childhood Acute M2 Leukemia" EXACT [] synonym: "Childhood Acute Myeloblastic Leukemia with Maturation" EXACT [] synonym: "Childhood Acute Myeloblastic Leukemia with Maturation (M2)" EXACT [] synonym: "Childhood Acute Myelocytic Leukemia with Maturation" EXACT [] synonym: "Childhood Acute Myelogenous Leukemia with Maturation" EXACT [] synonym: "Childhood Acute Myeloid Leukemia with Maturation" EXACT [] xref: NCIt:C9381 is_a: EFO:0003028 ! acute myeloblastic leukemia with maturation is_a: EFO:0010283 ! blood disease property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:1001946 name: childhood B acute lymphoblastic leukemia def: "An acute B-lymphoblastic leukemia occurring in children." [NCIT:P378] synonym: "B acute lymphoblastic leukaemia" BROAD OMO:0003005 [] synonym: "B acute lymphoblastic leukemia" BROAD [NCIT:C9140] synonym: "B cell childhood acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "B cell childhood acute lymphoblastic leukemia" EXACT [NCIT:C9140] synonym: "B cell childhood acute lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "B cell childhood acute lymphocytic leukemia" EXACT [NCIT:C9140] synonym: "B cell childhood ALL" EXACT [NCIT:C9140] synonym: "B cell paediatric acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "B cell paediatric acute lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "B cell paediatric ALL" EXACT OMO:0003005 [] synonym: "B cell pediatric acute lymphoblastic leukemia" EXACT [NCIT:C9140] synonym: "B cell pediatric acute lymphocytic leukemia" EXACT [NCIT:C9140] synonym: "B cell pediatric ALL" EXACT [NCIT:C9140] synonym: "B-cell childhood acute lymphoblastic leukemia" EXACT [] {comment="preferred label from MONDO"} synonym: "B-cell childhood acute lymphoblastic leukemia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "B-cell childhood acute lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "B-cell childhood acute lymphocytic leukemia" EXACT [NCIT:C9140] synonym: "B-cell childhood acute lymphogenous leukaemia" EXACT OMO:0003005 [] synonym: "B-cell childhood acute lymphogenous leukemia" EXACT [NCIT:C9140] synonym: "B-cell childhood acute lymphoid leukaemia" EXACT OMO:0003005 [] synonym: "B-cell childhood acute lymphoid leukemia" EXACT [NCIT:C9140] synonym: "B-cell childhood ALL" EXACT [NCIT:C9140] synonym: "B-cell paediatric acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "B-cell paediatric acute lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "B-cell paediatric acute lymphogenous leukaemia" EXACT OMO:0003005 [] synonym: "B-cell paediatric acute lymphoid leukaemia" EXACT OMO:0003005 [] synonym: "B-cell paediatric ALL" EXACT OMO:0003005 [] synonym: "B-cell pediatric acute lymphoblastic leukemia" EXACT [NCIT:C9140] synonym: "B-cell pediatric acute lymphocytic leukemia" EXACT [NCIT:C9140] synonym: "B-cell pediatric acute lymphogenous leukemia" EXACT [NCIT:C9140] synonym: "B-cell pediatric acute lymphoid leukemia" EXACT [NCIT:C9140] synonym: "B-cell pediatric ALL" EXACT [NCIT:C9140] synonym: "childhood B acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "childhood B acute lymphoblastic leukemia" EXACT [NCIT:C9140] synonym: "childhood B-ALL" EXACT [NCIT:C9140] synonym: "childhood precursor B-lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "childhood precursor B-lymphoblastic leukemia" EXACT [NCIT:C9140] xref: DOID:0080146 {source="MONDO:equivalentTo"} xref: EFO:1001946 {source="MONDO:equivalentTo"} xref: MONDO:0000872 xref: NCIT:C9140 {source="MONDO:equivalentTo", source="DOID:0080146"} xref: UMLS:C0279584 {source="MONDO:equivalentTo", source="NCIT:C9140"} is_a: EFO:0010283 ! blood disease is_a: MONDO:0000621 ! immune system cancer is_a: MONDO:0000870 {source="DOID:0080146", source="NCIT:C9140"} ! childhood acute lymphoblastic leukemia is_a: MONDO:0020511 {source="NCIT:C9140"} ! precursor B-cell acute lymphoblastic leukemia property_value: exactMatch DOID:0080146 property_value: exactMatch DOID:0080146 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279584 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279584 property_value: exactMatch NCIT:C9140 property_value: exactMatch NCIT:C9140 [Term] id: EFO:1001947 name: childhood T acute lymphoblastic leukemia def: "An acute lymphoblastic leukemia of T-cell origin occurring in children." [NCIT:C7953] synonym: "childhood precursor T-lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "childhood precursor T-lymphoblastic leukemia" EXACT [NCIT:C7953] synonym: "childhood T acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "childhood T acute lymphoblastic leukemia" EXACT [NCIT:C7953] synonym: "childhood T-ALL" EXACT [NCIT:C7953] synonym: "childhood T-cell acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "childhood T-cell acute lymphoblastic leukemia" EXACT [NCIT:C7953] synonym: "T acute lymphoblastic leukaemia" BROAD OMO:0003005 [] synonym: "T acute lymphoblastic leukemia" BROAD [NCIT:C7953] synonym: "T-cell childhood acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "T-cell childhood acute lymphoblastic leukemia" EXACT [NCIT:C7953] synonym: "T-cell childhood acute lymphocytic leukemia" EXACT [NCIT:C7953] synonym: "T-cell childhood acute lymphocytic leukemia" EXACT [] {comment="preferred label from MONDO"} synonym: "T-cell childhood acute lymphocytic leukemia" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "T-cell childhood ALL" EXACT [NCIT:C7953] synonym: "T-cell paediatric acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "T-cell paediatric acute lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "T-cell paediatric ALL" EXACT OMO:0003005 [] synonym: "T-cell pediatric acute lymphoblastic leukemia" EXACT [NCIT:C7953] synonym: "T-cell pediatric acute lymphocytic leukemia" EXACT [NCIT:C7953] synonym: "T-cell pediatric ALL" EXACT [NCIT:C7953] xref: DOID:0080145 {source="MONDO:equivalentTo"} xref: EFO:1001947 {source="MONDO:equivalentTo"} xref: MONDO:0000871 xref: NCIT:C7953 {source="DOID:0080145", source="MONDO:equivalentTo"} xref: UMLS:C0279583 {source="MONDO:equivalentTo", source="NCIT:C7953"} is_a: EFO:0000209 {source="EFO:1001947", source="NCIT:C7953"} ! T-cell acute lymphoblastic leukemia is_a: EFO:0010283 ! blood disease is_a: MONDO:0000870 {source="DOID:0080145", source="MONDO:Redundant", source="NCIT:C7953"} ! childhood acute lymphoblastic leukemia is_a: MONDO:0004403 {source="NCIT:C7953"} ! childhood precursor T-lymphoblastic lymphoma/leukemia property_value: exactMatch DOID:0080145 property_value: exactMatch DOID:0080145 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279583 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279583 property_value: exactMatch NCIT:C7953 property_value: exactMatch NCIT:C7953 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1001948 name: childhood T lymphoblastic lymphoma def: "A T lymphoblastic lymphoma that occurs during childhood." [NCIT:P378] synonym: "childhood precursor T-lymphoblastic lymphoma" EXACT [NCIT:C7210] synonym: "childhood T lymphoblastic lymphoma" EXACT [DOID:0080148, NCIT:C7210] synonym: "T lymphoblastic lymphoma" EXACT [NCIT:C7210] synonym: "T-cell childhood lymphoblastic lymphoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "T-cell childhood lymphoblastic lymphoma" EXACT [] {comment="preferred label from MONDO"} xref: DOID:0080148 {source="MONDO:equivalentTo"} xref: EFO:1001948 {source="MONDO:equivalentTo"} xref: MONDO:0000874 xref: NCIT:C7210 {source="MONDO:equivalentTo", source="DOID:0080148"} xref: UMLS:C1332998 {source="NCIT:C7210", source="MONDO:equivalentTo"} is_a: EFO:0010283 ! blood disease is_a: MONDO:0000873 {source="DOID:0080148", source="NCIT:C7210/inferred"} ! lymphoblastic lymphoma is_a: MONDO:0003659 ! pediatric lymphoma is_a: MONDO:0004403 {source="NCIT:C7210"} ! childhood precursor T-lymphoblastic lymphoma/leukemia property_value: exactMatch DOID:0080148 property_value: exactMatch DOID:0080148 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332998 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332998 property_value: exactMatch NCIT:C7210 property_value: exactMatch NCIT:C7210 [Term] id: EFO:1001949 name: colon adenocarcinoma def: "A carcinoma that arises from glandular epithelial cells of the colon" [MONDO:DesignPattern] def: "A carcinoma that arises from glandular epithelial cells of the colon" [https://orcid.org/0000-0002-6601-2165] synonym: "adenocarcinoma - colon" EXACT [NCIT:C4349] synonym: "adenocarcinoma of colon" EXACT [DOID:234, NCIT:C4349] synonym: "adenocarcinoma of the colon" EXACT [DOID:234, NCIT:C4349] synonym: "COAD" RELATED ABBREVIATION [ONCOTREE:COAD] synonym: "colon adenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "colon adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C4349] synonym: "colon adenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "colonic adenocarcinoma" EXACT [DOID:234, NCIT:C4349] xref: DOID:234 {source="MONDO:equivalentTo"} xref: EFO:1001949 {source="MONDO:equivalentTo"} xref: MONDO:0002271 xref: NCIT:C4349 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:234"} xref: NCIT:C4349 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:234"} xref: ONCOTREE:COAD {source="MONDO:equivalentTo"} xref: UMLS:C0338106 {source="MONDO:equivalentTo", source="NCIT:C4349", source="DOID:234"} is_a: EFO:0000365 {source="DOID:234", source="EFO:1001949", source="MONDO:Redundant", source="NCIT:C4349", source="ONCOTREE:COAD"} ! colorectal adenocarcinoma is_a: EFO:1001950 {source="DOID:234", source="EFO:1001949", source="MONDO:Redundant", source="NCIT:C4349"} ! colon carcinoma property_value: closeMatch http://identifiers.org/snomedct/255082000 property_value: exactMatch DOID:234 property_value: exactMatch DOID:234 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0338106 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0338106 property_value: exactMatch NCIT:C4349 property_value: exactMatch NCIT:C4349 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/adenocarcinoma.yaml [Term] id: EFO:1001950 name: colon carcinoma def: "A carcinoma that arises from epithelial cells of the colon" [https://orcid.org/0000-0002-6601-2165] def: "A carcinoma that arises from epithelial cells of the colon" [MONDO:DesignPattern] synonym: "carcinoma of colon" EXACT [DOID:1520, MONDO:patterns/carcinoma, MTH:191, NCIT:C4910] synonym: "carcinoma of the colon" EXACT [NCIT:C4910] synonym: "colon cancer" BROAD [NCIT:C4910] synonym: "colon cancer" EXACT [NCIT:C4910] synonym: "colon carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "colon carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "colon carcinoma" EXACT [MONDO:patterns/location, NCIT:C4910] synonym: "colonic carcinoma" EXACT [DOID:1520, NCIT:C4910] xref: DOID:1520 {source="MONDO:equivalentTo"} xref: EFO:1001950 {source="MONDO:equivalentTo"} xref: MONDO:0002032 xref: NCIT:C4910 {source="DOID:1520", source="MONDO:equivalentTo"} xref: SCTID:269533000 {source="DOID:1520", source="MONDO:equivalentTo"} xref: UMLS:C0699790 {source="DOID:1520", source="MONDO:equivalentTo", source="NCIT:C4910"} is_a: EFO:1001951 ! colorectal carcinoma is_a: MONDO:0021063 {source="DOID:1520", source="MONDO:Redundant", source="NCIT:C4910"} ! malignant colon neoplasm is_a: MONDO:0024479 ! epithelial tumor of colon property_value: closeMatch http://identifiers.org/snomedct/154454005 property_value: exactMatch DOID:1520 property_value: exactMatch DOID:1520 property_value: exactMatch http://identifiers.org/snomedct/269533000 property_value: exactMatch http://identifiers.org/snomedct/269533000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0699790 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0699790 property_value: exactMatch NCIT:C4910 property_value: exactMatch NCIT:C4910 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:1001951 name: colorectal carcinoma def: "A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." [NCIT:C2955] synonym: "cancer of large bowel" BROAD [NCIT:C2955] synonym: "cancer of large bowel" EXACT [NCIT:C2955] synonym: "cancer of large intestine" BROAD [NCIT:C2955] synonym: "cancer of large intestine" EXACT [NCIT:C2955] synonym: "cancer of the large bowel" BROAD [NCIT:C2955] synonym: "cancer of the large bowel" EXACT [NCIT:C2955] synonym: "cancer of the large intestine" BROAD [NCIT:C2955] synonym: "cancer of the large intestine" EXACT [NCIT:C2955] synonym: "carcinoma of colorectum" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of large bowel" EXACT [NCIT:C2955] synonym: "carcinoma of large intestine" EXACT [NCIT:C2955] synonym: "carcinoma of the large bowel" EXACT [NCIT:C2955] synonym: "carcinoma of the large intestine" EXACT [NCIT:C2955] synonym: "colorectal (colon or rectal) cancer" BROAD [NCIT:C2955] synonym: "colorectal (colon or rectal) cancer" EXACT [NCIT:C2955] synonym: "colorectal cancer" BROAD [NCIT:C2955] synonym: "colorectal cancer" EXACT [NCIT:C2955] synonym: "colorectal carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "colorectal carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "colorectal carcinoma" EXACT [NCIT:C2955] synonym: "colorectum carcinoma" EXACT [MONDO:patterns/location] synonym: "CRC" EXACT ABBREVIATION [NCIT:C2955] synonym: "large bowel cancer" BROAD [NCIT:C2955] synonym: "large bowel cancer" EXACT [NCIT:C2955] synonym: "large bowel carcinoma" EXACT [NCIT:C2955] synonym: "large intestine cancer" BROAD [NCIT:C2955] synonym: "large intestine cancer" EXACT [NCIT:C2955] synonym: "large intestine carcinoma" EXACT [NCIT:C2955] xref: DOID:0080199 {source="MONDO:equivalentTo"} xref: MONDO:0024331 xref: NCIT:C2955 {source="DOID:0080199", source="MONDO:equivalentTo"} xref: UMLS:CN221574 {source="MONDO:equivalentTo"} is_a: EFO:1000218 {source="MONDO:Redundant", source="NCIT:C2955"} ! Digestive System Carcinoma is_a: MONDO:0005575 {source="DOID:0080199", source="DOID:0080199/inferred", source="MONDO:Redundant", source="NCIT:C2955"} ! colorectal cancer property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0009402 property_value: exactMatch DOID:0080199 property_value: exactMatch DOID:0080199 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN221574 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN221574 property_value: exactMatch NCIT:C2955 property_value: exactMatch NCIT:C2955 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:1001952 name: endometrial adenosquamous carcinoma def: "A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components." [NCIT:P378] subset: gard_rare synonym: "adenosquamous carcinoma of endometrium" EXACT [DOID:5631, NCIT:C6290] synonym: "adenosquamous carcinoma of the endometrium" RELATED [GARD:0013107] synonym: "endometrial adenosquamous cancer" RELATED [GARD:0013107] synonym: "endometrial adenosquamous carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "endometrial adenosquamous carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "endometrial adenosquamous carcinoma" EXACT [GARD:0013107, NCIT:C114656] synonym: "endometrium adenosquamous carcinoma" EXACT [MONDO:patterns/location] xref: DOID:5631 {source="MONDO:equivalentTo"} xref: EFO:1001952 {source="MONDO:equivalentTo"} xref: GARD:0013107 {source="MONDO:equivalentTo"} xref: MONDO:0003556 xref: NCIT:C114656 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C114656 {source="MONDO:equivalentTo", source="exact-label-match"} xref: UMLS:C3896969 {source="GARD:0013107", source="MONDO:equivalentTo", source="NCIT:C114656"} is_a: EFO:1000073 {source="DOID:5631", source="MONDO:Redundant", source="NCIT:C114656"} ! Adenosquamous Carcinoma is_a: EFO:1000240 {source="DOID:5631", source="MONDO:Entailed", source="MONDO:Redundant"} ! Endometrial Squamous Cell Carcinoma property_value: exactMatch DOID:5631 property_value: exactMatch DOID:5631 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3896969 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3896969 property_value: exactMatch NCIT:C114656 property_value: exactMatch NCIT:C114656 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: http://purl.org/dc/terms/conformsTo adenosquamous:carcinoma.yaml [Term] id: EFO:1001953 name: endometrial endometrioid adenocarcinoma, variant with squamous differentiation def: "An endometrioid adenocarcinoma of the endometrium showing squamous differentiation." [] synonym: "Adenocanthoma of Endometrium" EXACT [] synonym: "Endometrial Adenoacanthoma" EXACT [] xref: NCIt:C6290 is_a: EFO:1000233 ! Endometrial Endometrioid Adenocarcinoma property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:1001954 name: Epstein-Barr virus-related Burkitts lymphoma def: "Burkitt lymphoma can be classified into three forms which differ in geographic distribution and Epstein–Barr virus (EBV) association: endemic, sporadic and HIV‐associated. Endemic Burkitt lymphoma is associated with EBV in over 95% of cases and is predominant in the equatorial belt of Africa and other parts of the world where malaria is hyperendemic." [] synonym: "EBV-Related Burkitt's Lymphoma" EXACT [] xref: NCIt:C27694 is_a: EFO:0000309 ! Burkitts lymphoma property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:1001955 name: erythroleukemia def: "Acute erythroid leukemia characterised by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow." [] xref: MedDRA:10015282 xref: NCIt:C7152 is_a: EFO:0000218 ! acute erythroleukemia is_a: EFO:0010283 ! blood disease property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:1001956 name: gallbladder carcinoma def: "A carcinoma that arises from epithelial cells of the gall bladder" [MONDO:DesignPattern] def: "A carcinoma that arises from epithelial cells of the gall bladder" [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of gallbladder" EXACT [NCIT:C3844] synonym: "cancer of the gallbladder" EXACT [DOID:4948, NCIT:C3844] synonym: "carcinoma gallbladder" EXACT [DOID:4948] synonym: "carcinoma of gall bladder" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of gallbladder" EXACT [NCIT:C3844] synonym: "carcinoma of the gallbladder" EXACT [NCIT:C3844] synonym: "gall bladder carcinoma" EXACT [MONDO:patterns/location] synonym: "Gall bladder carcinoma (adeno)" EXACT [NCIT:C3844] synonym: "Gall bladder carcinoma (adenocarcinoma)" EXACT [NCIT:C3844] synonym: "gallbladder cancer" BROAD [NCIT:C3844] synonym: "gallbladder carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "gallbladder carcinoma" EXACT [NCIT:C3844] synonym: "gallbladder carcinoma" EXACT [] {comment="preferred label from MONDO"} xref: DOID:4948 {source="MONDO:equivalentTo"} xref: EFO:1001956 {source="MONDO:equivalentTo"} xref: MONDO:0003220 xref: NCIT:C3844 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:4948"} xref: NCIT:C3844 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4948"} xref: SCTID:372140005 {source="MONDO:equivalentTo", source="DOID:4948"} xref: UMLS:C0235782 {source="MONDO:equivalentTo", source="NCIT:C3844", source="DOID:4948"} is_a: EFO:1000218 {source="EFO:1001956", source="MONDO:Redundant", source="NCIT:C3844"} ! Digestive System Carcinoma is_a: MONDO:0005411 {source="DOID:4948", source="MONDO:Redundant", source="NCIT:C3844"} ! gallbladder cancer property_value: closeMatch http://identifiers.org/snomedct/187782001 property_value: closeMatch http://identifiers.org/snomedct/255085003 property_value: closeMatch http://identifiers.org/snomedct/93810008 property_value: exactMatch DOID:4948 property_value: exactMatch DOID:4948 property_value: exactMatch http://identifiers.org/snomedct/372140005 property_value: exactMatch http://identifiers.org/snomedct/372140005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0235782 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0235782 property_value: exactMatch NCIT:C3844 property_value: exactMatch NCIT:C3844 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/carcinoma.yaml [Term] id: EFO:1001957 name: hereditary thyroid gland medullary carcinoma def: "A medullary thyroid gland carcinoma inherited through an autosomal dominant mode. It is associated with multiple endocrine neoplasia type II (2a) or III (2b)." [] synonym: "familial medullary thyroid cancer" EXACT [] synonym: "Familial Thyroid Gland Medullary Carcinoma" EXACT [] synonym: "Hereditary Thyroid Gland Medullary Cancer" EXACT [] xref: NCIt:C46099 is_a: EFO:0002892 ! thyroid carcinoma property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:1001958 name: high grade ovarian serous adenocarcinoma def: "A rapidly growing serous adenocarcinoma that arises from the ovary. It is characterized by the presence of high grade cytologic features and frequent mitotic figures." [] xref: NCIt:C105555 is_a: EFO:0002917 ! ovarian serous adenocarcinoma property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:1001959 name: hilar cholangiocarcinoma def: "A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts." [NCIT:C36077] subset: gard_rare subset: ordo_disease {source="Orphanet:99978"} synonym: "cholangiocarcinoma of hilar portion of hepatic duct" EXACT [MONDO:design_pattern] synonym: "hilar CC" EXACT [NCIT:C36077] synonym: "hilar CCA" EXACT [Orphanet:99978] synonym: "hilar cholangiocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "hilar cholangiocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "hilar cholangiocarcinoma" EXACT [DOID:4927, NCIT:C36077, Orphanet:99978] synonym: "hilar cholangiocellular carcinoma" RELATED [DOID:5246] synonym: "hilar portion of hepatic duct cholangiocarcinoma" EXACT [MONDO:patterns/location] synonym: "Klatskin tumor" EXACT [DOID:4927, MONDO:0020566, NCIT:C36077] synonym: "Klatskin tumour" EXACT OMO:0003005 [] synonym: "Klatskin's tumor" EXACT [GARD:0010175, MONDO:0006822] synonym: "Klatskin's tumour" EXACT OMO:0003005 [] synonym: "perihilar cholangiocarcinoma" RELATED [GARD:0010175] synonym: "perihilar extrahepatic bile duct carcinoma" EXACT [DOID:4927, NCIT:C5859] xref: DOID:4927 {source="MONDO:equivalentTo", source="EFO:1001005"} xref: DOID:5246 {source="MONDO:equivalentTo"} xref: DOID:5246 {source="MONDO:equivalentObsolete"} xref: EFO:1001005 {source="MONDO:equivalentTo"} xref: GARD:0010175 {source="MONDO:equivalentTo"} xref: ICD10:C24.0 {source="Orphanet:99978", source="ORDO:99978/ntbt"} xref: MESH:D018285 {source="MONDO:equivalentTo", source="Orphanet:99978", source="EFO:1001005", source="DOID:4927", source="Orphanet:99978/e"} xref: MESH:D018285 {source="ORDO:99978/e", source="MONDO:equivalentTo", source="Orphanet:99978", source="EFO:1001005", source="DOID:4927"} xref: MONDO:0003345 xref: NCIT:C36077 {source="DOID:5246", source="MONDO:equivalentTo", source="DOID:4927"} xref: Orphanet:99978 {source="GARD:0010175", source="MONDO:equivalentTo"} xref: SCTID:253017000 {source="MONDO:equivalentTo", source="DOID:4927"} xref: UMLS:C0206702 {source="GARD:0010175", source="NCIT:C36077", source="ORDO:99978/e", source="MONDO:equivalentTo", source="Orphanet:99978", source="DOID:4927"} xref: UMLS:C0206702 {source="GARD:0010175", source="NCIT:C36077", source="MONDO:equivalentTo", source="Orphanet:99978", source="DOID:4927", source="Orphanet:99978/e"} is_a: EFO:1001961 {source="DOID:4927"} ! intrahepatic cholangiocarcinoma property_value: closeMatch http://identifiers.org/snomedct/6492006 property_value: exactMatch DOID:4927 property_value: exactMatch DOID:4927 property_value: exactMatch DOID:5246 property_value: exactMatch http://identifiers.org/mesh/D018285 property_value: exactMatch http://identifiers.org/mesh/D018285 property_value: exactMatch http://identifiers.org/snomedct/253017000 property_value: exactMatch http://identifiers.org/snomedct/253017000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206702 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206702 property_value: exactMatch NCIT:C36077 property_value: exactMatch NCIT:C36077 property_value: exactMatch Orphanet:99978 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10175/klatskin-tumor xsd:anyURI {source="GARD:0010175"} [Term] id: EFO:1001960 name: hypopharyngeal squamous cell carcinoma def: "A squamous cell carcinoma that involves the hypopharynx." [MONDO:patterns/location] subset: ordo_disease synonym: "epidermoid carcinoma of hypopharynx" EXACT [NCIT:C4043] synonym: "epidermoid carcinoma of the hypopharynx" EXACT [NCIT:C4043] synonym: "hypopharyngeal epidermoid carcinoma" EXACT [NCIT:C4043] synonym: "hypopharyngeal squamous cell carcinoma" EXACT [NCIT:C4043] synonym: "hypopharyngeal throat squamous cell cancer" EXACT [NCIT:C4043] synonym: "hypopharynx squamous cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "hypopharynx squamous cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "squamous cell carcinoma of hypopharynx" EXACT [NCIT:C4043] synonym: "squamous cell carcinoma of the hypopharynx" RELATED [Orphanet:494547] xref: EFO:1001960 {source="MONDO:equivalentTo"} xref: MONDO:0044638 xref: NCIT:C4043 {source="MONDO:equivalentTo"} xref: ONCOTREE:HPHSC {source="MONDO:equivalentTo"} xref: Orphanet:494547 {source="MONDO:equivalentTo"} is_a: EFO:0002938 ! hypopharyngeal carcinoma is_a: EFO:1001965 ! pharyngeal squamous cell carcinoma property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0280321 property_value: exactMatch NCIT:C4043 property_value: exactMatch NCIT:C4043 property_value: exactMatch Orphanet:494547 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/squamous_cell_carcinoma.yaml [Term] id: EFO:1001961 name: intrahepatic cholangiocarcinoma def: "A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." [NCIT:C35417] subset: gard_rare {source="GARD:0006042"} synonym: "cholangiocarcinoma, intrahepatic, malignant" EXACT [NCIT:C35417] synonym: "ICC" EXACT ABBREVIATION [NCIT:C35417] synonym: "IHCH" RELATED ABBREVIATION [ONCOTREE:IHCH] synonym: "intrahepatic bile duct cancer (cholangiocarcinoma)" EXACT [NCIT:C35417] synonym: "intrahepatic bile duct carcinoma" EXACT [NCIT:C35417] synonym: "intrahepatic carcinoma of bile duct" EXACT [NCIT:C35417] synonym: "intrahepatic carcinoma of the bile duct" EXACT [NCIT:C35417] synonym: "intrahepatic cholangiocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "intrahepatic cholangiocarcinoma" EXACT [NCIT:C35417] synonym: "intrahepatic cholangiocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "intrahepatic cholangiocarcinoma (bile duct cancer)" EXACT [NCIT:C35417] synonym: "intrahepatic Cholangiocellular carcinoma" EXACT [NCIT:C35417] synonym: "peripheral cholangiocarcinoma" EXACT [DOID:4928, NCIT:C35417] xref: COHD:4001664 {source="MONDO:equivalentTo"} xref: DOID:4928 {source="MONDO:equivalentTo"} xref: EFO:1001961 {source="MONDO:equivalentTo"} xref: GARD:0006042 {source="MONDO:equivalentTo"} xref: ICD10:C22.1 {source="DOID:4928"} xref: MONDO:0003210 xref: NCIT:C35417 {source="MONDO:equivalentTo", source="DOID:4928"} xref: ONCOTREE:IHCH {source="MONDO:equivalentTo"} xref: SCTID:109842005 {source="MONDO:equivalentTo", source="DOID:4928"} xref: UMLS:C0345905 {source="MONDO:equivalentTo", source="DOID:4928", source="NCIT:C35417"} is_a: EFO:0005221 {source="DOID:4928", source="EFO:1001961", source="MONDO:Redundant", source="NCIT:C35417", source="ONCOTREE:IHCH"} ! cholangiocarcinoma is_a: MONDO:0001487 ! intrahepatic bile duct cancer property_value: exactMatch DOID:4928 property_value: exactMatch DOID:4928 property_value: exactMatch http://identifiers.org/snomedct/109842005 property_value: exactMatch http://identifiers.org/snomedct/109842005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345905 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345905 property_value: exactMatch NCIT:C35417 property_value: exactMatch NCIT:C35417 property_value: gwas:trait "true" xsd:boolean property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6042/intrahepatic-cholangiocarcinoma xsd:anyURI {source="GARD:0006042"} [Term] id: EFO:1001962 name: ovarian cystadenocarcinoma def: "An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma." [NCIT:C5228] synonym: "cystadenocarcinoma of ovary" EXACT [NCIT:C5228] synonym: "cystadenocarcinoma of the ovary" EXACT [DOID:3605, NCIT:C5228] synonym: "ovarian cystadenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "ovarian cystadenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "ovarian cystadenocarcinoma" EXACT [NCIT:C5228] synonym: "ovary cystadenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:3605 {source="MONDO:equivalentTo"} xref: EFO:1001962 {source="MONDO:equivalentTo"} xref: MONDO:0002702 xref: NCIT:C5228 {source="MONDO:equivalentTo", source="DOID:3605", source="MONDO:exact-label-match"} xref: NCIT:C5228 {source="MONDO:equivalentTo", source="DOID:3605", source="exact-label-match"} xref: SCTID:314191009 {source="MONDO:equivalentTo", source="DOID:3605"} xref: UMLS:C1096638 {source="MONDO:equivalentTo", source="DOID:3605", source="NCIT:C5228"} is_a: EFO:0006387 {source="MONDO:Redundant", source="NCIT:C5228"} ! cystadenocarcinoma is_a: EFO:0006460 {source="DOID:3605", source="EFO:1001962", source="MONDO:Redundant", source="NCIT:C5228"} ! ovarian adenocarcinoma property_value: exactMatch DOID:3605 property_value: exactMatch DOID:3605 property_value: exactMatch http://identifiers.org/snomedct/314191009 property_value: exactMatch http://identifiers.org/snomedct/314191009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1096638 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1096638 property_value: exactMatch NCIT:C5228 property_value: exactMatch NCIT:C5228 [Term] id: EFO:1001963 name: ovarian mucinous cystadenocarcinoma def: "An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis." [NCIT:C4026] synonym: "mucinous cystadenocarcinoma of ovary" EXACT [NCIT:C4026] synonym: "mucinous cystadenocarcinoma of the ovary" EXACT [NCIT:C4026] synonym: "ovarian mucinous cystadenocarcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "ovarian mucinous cystadenocarcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "ovarian mucinous cystadenocarcinoma" EXACT [DOID:3604, NCIT:C4026] synonym: "ovary mucinous cystadenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:3604 {source="MONDO:equivalentTo"} xref: EFO:1001963 {source="MONDO:equivalentTo"} xref: MONDO:0002701 xref: NCIT:C4026 {source="MONDO:equivalentTo", source="DOID:3604", source="MONDO:exact-label-match"} xref: NCIT:C4026 {source="MONDO:equivalentTo", source="DOID:3604", source="exact-label-match"} xref: SCTID:254851009 {source="MONDO:equivalentTo", source="DOID:3604"} xref: UMLS:C0279665 {source="MONDO:equivalentTo", source="NCIT:C4026", source="DOID:3604"} is_a: EFO:0006462 {source="MONDO:Redundant", source="NCIT:C4026"} ! ovarian mucinous adenocarcinoma is_a: EFO:0007378 {source="EFO:1001963", source="MONDO:Redundant", source="NCIT:C4026"} ! mucinous cystadenocarcinoma is_a: EFO:1001962 {source="DOID:3604", source="MONDO:Redundant", source="NCIT:C4026"} ! ovarian cystadenocarcinoma property_value: exactMatch DOID:3604 property_value: exactMatch DOID:3604 property_value: exactMatch http://identifiers.org/snomedct/254851009 property_value: exactMatch http://identifiers.org/snomedct/254851009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279665 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279665 property_value: exactMatch NCIT:C4026 property_value: exactMatch NCIT:C4026 property_value: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql [Term] id: EFO:1001964 name: pancreatic somatostatinoma def: "A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss." [] xref: NCIt:C95595 is_a: EFO:0003860 ! pancreatic neoplasm property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:1001965 name: pharyngeal squamous cell carcinoma def: "A squamous cell carcinoma that arises from the pharynx." [NCIT:C102872] synonym: "pharyngeal (including hypopharyngeal and oropharyngeal) squamous cell carcinoma" EXACT [NCIT:C102872] synonym: "pharyngeal squam. cell carcinoma" EXACT [NCIT:C102872] synonym: "pharyngeal squamous cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "pharyngeal squamous cell carcinoma" EXACT [NCIT:C102872] synonym: "pharyngeal squamous cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "pharyngeal throat squamous cell cancer" EXACT [NCIT:C102872] synonym: "pharynx squamous cell carcinoma" EXACT [MONDO:patterns/location] xref: DOID:0050921 {source="MONDO:equivalentTo"} xref: EFO:1001965 {source="MONDO:equivalentTo"} xref: MONDO:0000536 xref: NCIT:C102872 {source="MONDO:equivalentTo"} xref: SCTID:408649007 {source="MONDO:equivalentTo"} xref: UMLS:C1319317 {source="MONDO:equivalentTo"} is_a: EFO:0000181 {source="MONDO:Redundant", source="NCIT:C102872"} ! head and neck squamous cell carcinoma is_a: EFO:0005577 {source="DOID:0050921", source="EFO:1001965", source="MONDO:Redundant", source="NCIT:C102872/inferred"} ! pharynx cancer is_a: MONDO:0021345 {source="MONDO:Redundant", source="NCIT:C102872"} ! carcinoma of pharynx property_value: exactMatch DOID:0050921 property_value: exactMatch DOID:0050921 property_value: exactMatch http://identifiers.org/snomedct/408649007 property_value: exactMatch http://identifiers.org/snomedct/408649007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1319317 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1319317 property_value: exactMatch NCIT:C102872 property_value: exactMatch NCIT:C102872 [Term] id: EFO:1001966 name: rectosigmoid adenocarcinoma def: "An adenocarcinoma arising from the rectosigmoid area. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectosigmoid adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." [] xref: NCIt:C43584 is_a: EFO:0000365 ! colorectal adenocarcinoma property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:1001967 name: salivary gland squamous cell carcinoma def: "A squamous cell carcinoma arising from the salivary glands." [] def: "A squamous cell carcinoma arising from the salivary glands. The majority of patients are in their sixth through eight decades. It usually presents as a rapidly enlarging mass, which may be painful. It usually has an aggressive clinical course." [NCIT:C7991] subset: ordo_histopathological_subtype synonym: "epidermoid carcinoma of salivary gland" EXACT [NCIT:C7991] synonym: "epidermoid carcinoma of the salivary gland" EXACT [NCIT:C7991] synonym: "saliva-secreting gland squamous cell carcinoma" EXACT [] synonym: "salivary gland epidermoid carcinoma" EXACT [NCIT:C7991] synonym: "salivary gland SCC" EXACT [NCIT:C7991] synonym: "salivary gland squamous cell cancer" EXACT [NCIT:C7991] synonym: "salivary gland squamous cell carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "salivary gland squamous cell carcinoma" EXACT [NCIT:C7991] synonym: "SCC of salivary gland" EXACT [NCIT:C7991] synonym: "SCC of the salivary gland" EXACT [NCIT:C7991] synonym: "squamous cell carcinoma of salivary gland" EXACT [NCIT:C7991] synonym: "squamous cell carcinoma of salivary glands" RELATED [Orphanet:500481] synonym: "squamous cell carcinoma of the salivary gland" EXACT [NCIT:C7991] xref: MONDO:0044740 xref: NCIT:C7991 {source="MONDO:equivalentTo"} xref: NCIt:C7991 xref: Orphanet:500481 {source="MONDO:equivalentTo"} xref: UMLS:C0279697 {source="MONDO:equivalentTo"} is_a: EFO:0000199 ! oral squamous cell carcinoma is_a: MONDO:0000521 {source="MONDO:Redundant", source="NCIT:C7991"} ! salivary gland carcinoma is_a: MONDO:0017167 {source="Orphanet:500481"} ! malignant epithelial tumor of salivary glands property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279697 property_value: exactMatch NCIT:C7991 property_value: exactMatch Orphanet:500481 property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:1001968 name: soft tissue sarcoma def: "A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones." [NCIT:C9306] subset: disease_grouping subset: gard_rare subset: ordo_group_of_disorders {source="Orphanet:3394"} synonym: "connective tissue sarcoma" EXACT [NCIT:C9306] synonym: "malignant mesenchymal tumor" EXACT [Orphanet:3394] synonym: "malignant mesenchymal tumour" EXACT OMO:0003005 [] synonym: "malignant soft tissue tumor" BROAD [Orphanet:3394] synonym: "malignant soft tissue tumor" EXACT [Orphanet:3394] synonym: "malignant soft tissue tumour" BROAD OMO:0003005 [] synonym: "non-Rhabdo. soft tissue sarcoma" EXACT [NCIT:C9306] synonym: "sarcoma of soft tissue" EXACT [NCIT:C9306] synonym: "sarcoma of the soft tissue" EXACT [NCIT:C9306] synonym: "soft part sarcoma" EXACT [Orphanet:3394] synonym: "soft tissue sarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "soft tissue sarcoma" EXACT [NCIT:C9306] synonym: "soft tissue sarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: EFO:1001968 {source="MONDO:equivalentTo"} xref: GARD:0004898 {source="MONDO:equivalentTo"} xref: MONDO:0018078 xref: NCIT:C9306 {source="MONDO:equivalentTo"} xref: Orphanet:3394 {source="MONDO:equivalentTo"} xref: SCTID:424952003 {source="MONDO:equivalentTo"} xref: UMLS:CN204398 {source="MONDO:equivalentTo"} is_a: EFO:0000691 {source="EFO:1001968", source="NCIT:C9306"} ! sarcoma is_a: MONDO:0024637 {source="NCIT:C9306"} ! malignant soft tissue neoplasm relationship: has_characteristic MONDO:0021136 {source="MONDO:0019099"} ! rare property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0334492 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1261473 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2211494 property_value: exactMatch http://identifiers.org/snomedct/424952003 property_value: exactMatch http://identifiers.org/snomedct/424952003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204398 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204398 property_value: exactMatch NCIT:C9306 property_value: exactMatch NCIT:C9306 property_value: exactMatch Orphanet:3394 [Term] id: EFO:1001969 name: squamous cell breast carcinoma, acantholytic variant def: "A squamous cell carcinoma that arises from the breast parenchyma and is characterized by cellular discohesion resulting in a pseudoangiosarcomatous pattern." [NCIT:P378] synonym: "acantholytic variant squamous cell breast carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "acantholytic variant squamous cell breast carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "squamous cell breast carcinoma, acantholytic variant" EXACT [NCIT:C40359] xref: DOID:7459 {source="MONDO:equivalentTo"} xref: EFO:1001969 {source="MONDO:equivalentTo"} xref: MONDO:0004229 xref: NCIT:C40359 {source="DOID:7459", source="MONDO:equivalentTo"} xref: UMLS:C1519485 {source="NCIT:C40359", source="DOID:7459", source="MONDO:equivalentTo"} is_a: EFO:1000053 {source="DOID:7459", source="EFO:1001969", source="NCIT:C40359"} ! squamous cell breast carcinoma property_value: exactMatch DOID:7459 property_value: exactMatch DOID:7459 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519485 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519485 property_value: exactMatch NCIT:C40359 property_value: exactMatch NCIT:C40359 [Term] id: EFO:1001970 name: squamous papilloma def: "A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy. Most frequently it arises in the oral cavity, nasopharynx, larynx, esophagus, vagina, and vulva." [NCIT:C3712] synonym: "epidermoid cell papilloma" EXACT [NCIT:C3712] synonym: "epidermoid papilloma" EXACT [DOID:139, NCIT:C3712] synonym: "keratotic papilloma" EXACT [NCIT:C3712] synonym: "papilloma, squamous cell, benign" EXACT [NCIT:C3712] synonym: "squamous cell papilloma" EXACT [NCIT:C3712] synonym: "squamous cell papilloma (morphologic abnormality)" EXACT [DOID:139] synonym: "squamous papilloma" EXACT [] {comment="preferred label from MONDO"} synonym: "squamous papilloma" EXACT [NCIT:C3712] synonym: "squamous papilloma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: DOID:139 {source="MONDO:equivalentTo"} xref: EFO:1001970 {source="MONDO:equivalentTo"} xref: ICDO:8052/0 {source="NCIT:C3712"} xref: MONDO:0001825 xref: NCIT:C3712 {source="DOID:139", source="MONDO:equivalentTo"} xref: UMLS:C0205874 {source="DOID:139", source="MONDO:equivalentTo", source="NCIT:C3712"} is_a: MONDO:0002363 {source="DOID:139", source="NCIT:C3712"} ! papilloma property_value: closeMatch http://identifiers.org/snomedct/63451008 property_value: exactMatch DOID:139 property_value: exactMatch DOID:139 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205874 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205874 property_value: exactMatch NCIT:C3712 property_value: exactMatch NCIT:C3712 [Term] id: EFO:1001971 name: thyroid gland sarcoma def: "A malignant soft tissue neoplasm primarily involving the thyroid gland." [] synonym: "Sarcoma of Thyroid" EXACT [] synonym: "Thyroid Sarcoma" EXACT [] xref: NCIt:C6041 is_a: EFO:0003841 ! thyroid neoplasm property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EFO:1001972 name: undifferentiated pleomorphic sarcoma alt_id: MONDO:0016069 def: "An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma." [NCIT:C4247] subset: gard_rare {source="GARD:0006963"} subset: ordo_disease {source="Orphanet:2023"} synonym: "adult malignant fibrous histiocytoma" EXACT [NCIT:C114541] synonym: "adult unclassified pleomorphic sarcoma" EXACT [NCIT:C114541] synonym: "adult undifferentiated pleomorphic sarcoma" EXACT [NCIT:C114541] synonym: "fibrous histiocytoma, malignant" EXACT [DOID:1907] synonym: "fibrous histiocytoma, malignant (morphologic abnormality)" EXACT [DOID:1907] synonym: "fibroxanthosarcoma" EXACT [DOID:1907, NCIT:C4247] synonym: "fibroxanthosarcoma (morphologic abnormality)" EXACT [DOID:1907] synonym: "histiocytoma, fibrous, malignant" EXACT [NCIT:C4247] synonym: "malignant fibrohistiocytic tumors" RELATED [GARD:0006963] synonym: "malignant fibrohistiocytic tumours" RELATED OMO:0003005 [] synonym: "malignant fibrous cytoma" EXACT [NCIT:C4247] synonym: "malignant fibrous histiocytoma" EXACT [GARD:0006963, NCIT:C4247] synonym: "malignant fibrous histiocytoma of soft tissue and bone" EXACT [NCIT:C4247] synonym: "malignant fibrous histiocytoma of the soft tissue and bone" EXACT [NCIT:C4247] synonym: "malignant fibroxanthoma" EXACT [NCIT:C4247] synonym: "MFH" EXACT ABBREVIATION [DOID:1907, NCIT:C4247] synonym: "Storiform-pleomorphic fibrous histiocytoma" EXACT [NCIT:C4247] synonym: "Storiform-pleomorphic malignant fibrous histiocytoma" EXACT [NCIT:C4247] synonym: "Storiform-pleomorphic MFH" EXACT [NCIT:C4247] synonym: "unclassified pleomorphic sarcoma" EXACT [NCIT:C4247] synonym: "Unclassified Pleomorphic sarcoma (formerly \"malignant fibrous histiocytoma\")" EXACT [NCIT:C4247] synonym: "Unclassified Pleomorphic sarcoma (formerly \"MFH\")" EXACT [NCIT:C4247] synonym: "undifferentiated pleomorphic sarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "undifferentiated pleomorphic sarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "undifferentiated pleomorphic sarcoma" EXACT [NCIT:C4247] synonym: "undifferentiated pleomorphic sarcoma/malignant fibrous histiocytoma/high-grade spindle cell sarcoma" RELATED [ONCOTREE:MFH] synonym: "undifferentiated pleomorphic soft tissue sarcoma" EXACT [NCIT:C4247] synonym: "UPS" EXACT ABBREVIATION [NCIT:C4247, Orphanet:2023] xref: DOID:1907 {source="MONDO:equivalentTo"} xref: EFO:1001972 {source="MONDO:equivalentTo"} xref: GARD:0006963 {source="MONDO:equivalentTo"} xref: HGNC:16982 {source="GARD:0006963"} xref: ICD10:C49.9 {source="Orphanet:2023", source="ORDO:2023/ntbt"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8830/3 {source="NCIT:C4247"} xref: MedDRA:10025552 {source="Orphanet:2023", source="ORDO:2023/e"} xref: MedDRA:10025552 {source="Orphanet:2023", source="Orphanet:2023/e"} xref: MESH:D051677 {source="Orphanet:2023", source="ORDO:2023/e", source="DOID:1907", source="MONDO:equivalentTo"} xref: MESH:D051677 {source="Orphanet:2023", source="DOID:1907", source="MONDO:equivalentTo", source="Orphanet:2023/e"} xref: MONDO:0002142 xref: NCIT:C114541 {source="MONDO:equivalentTo"} xref: NCIT:C4247 {source="DOID:1907", source="MONDO:equivalentTo"} xref: ONCOTREE:MFH {source="MONDO:equivalentTo"} xref: Orphanet:2023 {source="MONDO:equivalentTo"} xref: SCTID:443439001 {source="DOID:1907", source="MONDO:equivalentTo"} is_a: EFO:0005561 {source="DOID:1907", source="MESH:D051677"} ! histiocytoma is_a: EFO:1001968 {source="EFO:1001972", source="NCIT:C114541/inferred", source="NCIT:C4247/inferred", source="Orphanet:2023"} ! soft tissue sarcoma is_a: MONDO:0021054 {source="Orphanet:2023"} ! bone sarcoma property_value: closeMatch http://identifiers.org/meddra/10025552 property_value: closeMatch http://identifiers.org/snomedct/189772005 property_value: closeMatch http://identifiers.org/snomedct/253040001 property_value: closeMatch http://identifiers.org/snomedct/34360000 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0279546 property_value: exactMatch DOID:1907 property_value: exactMatch DOID:1907 property_value: exactMatch http://identifiers.org/meddra/10025552 property_value: exactMatch http://identifiers.org/mesh/D051677 property_value: exactMatch http://identifiers.org/mesh/D051677 property_value: exactMatch http://identifiers.org/snomedct/443439001 property_value: exactMatch http://identifiers.org/snomedct/443439001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334463 property_value: exactMatch NCIT:C114541 property_value: exactMatch NCIT:C114541 property_value: exactMatch NCIT:C4247 property_value: exactMatch NCIT:C4247 property_value: exactMatch Orphanet:2023 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6963/undifferentiated-pleomorphic-sarcoma xsd:anyURI {source="GARD:0006963"} [Term] id: EFO:1001973 name: ureter urothelial carcinoma def: "A carcinoma that arises from the transitional epithelium of the ureter. It is associated with tobacco use and usually presents with gross or microscopic hematuria." [NCIT:P378] synonym: "transitional cell carcinoma of the ureter" EXACT [NCIT:C4830] synonym: "transitional cell carcinoma of ureter" EXACT [NCIT:C4830] synonym: "ureter transitional cell carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "ureter transitional cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C4830] synonym: "ureter urothelial cancer" EXACT [NCIT:C4830] synonym: "ureter urothelial carcinoma" EXACT [NCIT:C4830] synonym: "ureteral transitional cell carcinoma" EXACT [NCIT:C4830] synonym: "ureteral urothelial cell carcinoma" EXACT [DOID:6888, NCIT:C4830] synonym: "urothelial cell carcinoma of the ureter" EXACT [NCIT:C4830] synonym: "urothelial cell carcinoma of ureter" EXACT [NCIT:C4830] xref: DOID:6888 {source="MONDO:equivalentTo"} xref: EFO:1001973 {source="MONDO:equivalentTo"} xref: NCIT:C4830 {source="DOID:6888", source="MONDO:equivalentTo"} xref: SCTID:300988009 {source="DOID:6888", source="MONDO:equivalentTo"} xref: UMLS:C0577692 {source="DOID:6888", source="MONDO:equivalentTo", source="NCIT:C4830"} is_a: EFO:0008528 ! urothelial carcinoma is_a: EFO:1000609 ! Ureter Carcinoma property_value: exactMatch DOID:6888 property_value: exactMatch http://identifiers.org/snomedct/300988009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0577692 property_value: exactMatch NCIT:C4830 [Term] id: EFO:1001974 name: uterine leiomyosarcoma def: "An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C6340] subset: ordo_disease {source="Orphanet:213625"} synonym: "body of uterus leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C6340] synonym: "corpus uteri leiomyosarcoma" EXACT [NCIT:C6340] synonym: "leiomyosarcoma - uterus" EXACT [NCIT:C6340] synonym: "leiomyosarcoma of body of uterus" EXACT [NCIT:C6340] synonym: "leiomyosarcoma of corpus uteri" EXACT [NCIT:C6340] synonym: "leiomyosarcoma of the body of uterus" EXACT [NCIT:C6340] synonym: "leiomyosarcoma of the corpus uteri" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "leiomyosarcoma of the corpus uteri" EXACT [NCIT:C6340] synonym: "leiomyosarcoma of the corpus uteri" EXACT [] {comment="preferred label from MONDO"} synonym: "leiomyosarcoma of the uterine body" EXACT [NCIT:C6340] synonym: "leiomyosarcoma of the uterine corpus" EXACT [NCIT:C6340] synonym: "leiomyosarcoma of the uterus" EXACT [NCIT:C6340] synonym: "leiomyosarcoma of uterine body" EXACT [NCIT:C6340] synonym: "leiomyosarcoma of uterine corpus" EXACT [NCIT:C6340] synonym: "leiomyosarcoma of uterus" EXACT [NCIT:C6340] synonym: "uterine body leiomyosarcoma" EXACT [NCIT:C6340] synonym: "uterine corpus leiomyosarcoma" EXACT [NCIT:C6340] synonym: "uterine leiomyosarcoma" RELATED [ONCOTREE:ULMS] synonym: "uterus leiomyosarcoma" RELATED [DOID:5289] xref: DOID:5289 {source="MONDO:equivalentTo"} xref: ICD10:C54.2 {source="ORDO:213625/ntbt", source="Orphanet:213625"} xref: MONDO:0016262 xref: NCIT:C6340 {source="DOID:5289", source="DesignPattern", source="MONDO:equivalentTo"} xref: NCIT:C6340 {source="DOID:5289", source="MONDO:equivalentTo"} xref: ONCOTREE:ULMS {source="MONDO:equivalentTo"} xref: Orphanet:213625 {source="MONDO:equivalentTo"} xref: SCTID:447389009 {source="DOID:5289", source="MONDO:equivalentTo"} xref: UMLS:C0280631 {source="DOID:5289", source="NCIT:C6340", source="MONDO:equivalentTo", source="Orphanet:213625"} is_a: EFO:0000564 {source="DOID:5289", source="MONDO:Redundant", source="NCIT:C6340/inferred"} ! leiomyosarcoma is_a: EFO:0002914 {source="DOID:5289", source="MONDO:Redundant", source="NCIT:C6340", source="ONCOTREE:ULMS/inferred", source="Orphanet:213625"} ! uterine sarcoma is_a: MONDO:0004526 ! mixed endometrial stromal and smooth muscle tumor property_value: exactMatch DOID:5289 property_value: exactMatch DOID:5289 property_value: exactMatch http://identifiers.org/snomedct/447389009 property_value: exactMatch http://identifiers.org/snomedct/447389009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280631 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280631 property_value: exactMatch NCIT:C6340 property_value: exactMatch NCIT:C6340 property_value: exactMatch Orphanet:213625 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/leiomyosarcoma.yaml property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:1001975 name: vulvar leiomyosarcoma def: "An aggressive malignant smooth muscle neoplasm, arising from the vulva. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C40318] synonym: "leiomyosarcoma of mammalian vulva" EXACT [MONDO:design_pattern] synonym: "mammalian vulva leiomyosarcoma" EXACT [MONDO:patterns/location] synonym: "vulvar leiomyosarcoma" EXACT [] {comment="preferred label from MONDO"} synonym: "vulvar leiomyosarcoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} xref: DOID:5286 {source="MONDO:equivalentTo"} xref: EFO:1001975 {source="MONDO:equivalentTo"} xref: MONDO:0003372 xref: NCIT:C40318 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5286"} xref: NCIT:C40318 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:5286"} xref: UMLS:C2168304 {source="NCIT:C40318", source="MONDO:equivalentTo"} is_a: EFO:0000564 {source="MONDO:Redundant", source="NCIT:C40318/inferred"} ! leiomyosarcoma is_a: EFO:0002920 {source="DOID:5286", source="EFO:1001975", source="MONDO:Redundant", source="NCIT:C40318"} ! vulva sarcoma property_value: exactMatch DOID:5286 property_value: exactMatch DOID:5286 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2168304 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2168304 property_value: exactMatch NCIT:C40318 property_value: exactMatch NCIT:C40318 property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/leiomyosarcoma.yaml property_value: http://purl.org/dc/terms/conformsTo http://purl.obolibrary.org/obo/mondo/patterns/location.yaml [Term] id: EFO:1001976 name: cardioembolic stroke def: "stroke caused by the blockage of blood flow in a brain vessel through a clot or other foreign matters pumped from the heart to the brain" [] xref: MedDRA:10067816 xref: PMID:7678184 is_a: EFO:0000712 ! stroke property_value: dc-creator "Dani Welter" xsd:string property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1001977 name: 3MC syndrome 2 def: "A type of 3MC syndrome which is that has material basis in homozygous mutation in the COLEC11 gene on chromosome 2p25." [] def: "Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene." [MONDO:patterns/disease_series_by_gene] synonym: "3MC syndrome 2" EXACT [MONDO:Lexical, OMIM:265050] synonym: "3MC syndrome 2" EXACT [] {comment="preferred label from MONDO"} synonym: "3MC syndrome caused by mutation in COLEC11" EXACT [MONDO:design_pattern] synonym: "3MC syndrome type 2" EXACT [DOID:0060576, MONDORULE:1] synonym: "3Mc syndrome type 2" EXACT [MONDORULE:1, OMIM:265050] synonym: "3MC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:265050] synonym: "Carnevale syndrome" RELATED [OMIM:265050] synonym: "Carnevale syndrome, formerly" RELATED [OMIM:265050] synonym: "COLEC11 3MC syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "oculo-skeletal-abdominal syndrome" RELATED [OMIM:265050] synonym: "Osa syndrome" RELATED [OMIM:265050] synonym: "ptosis of eyelids with diastasis recti and hip dysplasia" RELATED [OMIM:265050] xref: DOID:0060576 {source="MONDO:equivalentTo"} xref: MESH:C535586 {source="MONDO:equivalentTo"} xref: MONDO:0009927 xref: OMIM:265050 {source="DOID:0060576", source="MONDO:equivalentTo"} xref: Orphanet:2998 {source="OMIM:265050", source="MONDO:equivalentObsolete"} is_a: MONDO:0017398 {source="DC-OMIM:265050", source="DOID:0060576", source="EFO:1001977", source="MONDO:Redundant", source="OMIM:265050"} ! 3MC syndrome property_value: exactMatch DOID:0060576 property_value: exactMatch http://identifiers.org/mesh/C535586 property_value: exactMatch https://omim.org/entry/265050 property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001978 name: 3MC syndrome 1 def: "A type of 3MC syndrome which is that has material basis in homozygous mutation in the MASP1 gene on chromosome 3q27." [] def: "Any 3MC syndrome in which the cause of the disease is a mutation in the MASP1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "3MC syndrome 1" EXACT [MONDO:Lexical, OMIM:257920] synonym: "3MC syndrome 1" EXACT [] {comment="preferred label from MONDO"} synonym: "3MC syndrome caused by mutation in MASP1" EXACT [MONDO:design_pattern] synonym: "3MC syndrome type 1" EXACT [DOID:0060575, MONDORULE:1] synonym: "3Mc syndrome type 1" EXACT [MONDORULE:1, OMIM:257920] synonym: "3MC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:257920] synonym: "craniosynostosis with 51D anomalies" RELATED [OMIM:257920] synonym: "MASP1 3MC syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Michels syndrome" RELATED [OMIM:257920] synonym: "Michels syndrome, formerly" RELATED [OMIM:257920] synonym: "oculopalatoskeletal syndrome" RELATED [OMIM:257920] xref: DOID:0060575 {source="MONDO:equivalentTo"} xref: MONDO:0009770 xref: OMIM:257920 {source="DOID:0060575", source="MONDO:equivalentTo"} xref: Orphanet:2506 {source="MONDO:equivalentObsolete", source="OMIM:257920"} xref: UMLS:C0796059 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:257920"} is_a: MONDO:0017398 {source="DC-OMIM:257920", source="DOID:0060575", source="EFO:1001978", source="MONDO:Redundant", source="OMIM:257920"} ! 3MC syndrome property_value: exactMatch DOID:0060575 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796059 property_value: exactMatch https://omim.org/entry/257920 property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001979 name: Adrenocorticotropic hormone deficiency def: "A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland." [DOID:0080150, PMID:27041067, Wikipedia:Adrenocorticotropic_hormone_deficiency] def: "Subnormal concentration of adrenocorticotropic hormone (ACTH) resulting in decreased secretion of cortisol by the adrenal gland." [] subset: ordo_disease {source="Orphanet:199296"} synonym: "ACTH Deficiency" EXACT [] synonym: "ACTH deficiency, isolated" RELATED [MONDO:Lexical, OMIM:201400] synonym: "adrenocorticotropic hormone deficiency" EXACT [MONDO:ambiguous, OMIM:201400] synonym: "congenital isolated ACTH deficiency" RELATED [Orphanet:199296] synonym: "congenital isolated adrenocorticotropic hormone deficiency" EXACT [] {comment="preferred label from MONDO"} synonym: "congenital isolated adrenocorticotropic hormone deficiency (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Corticotropin deficiency" EXACT [] synonym: "IAD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:201400] synonym: "isolated ACTH deficiency" RELATED [GARD:0005727] synonym: "isolated adrenocorticotropic hormone deficiency" RELATED [GARD:0005727] xref: DOID:0080150 {source="MONDO:equivalentTo"} xref: HP:0011748 {source="MONDO:otherHierarchy"} xref: ICD9:255.41 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10073179 xref: MESH:C535668 {source="MONDO:equivalentTo"} xref: MeSH:C535668 xref: MONDO:0008720 xref: NCIt:C120433 xref: OMIM:201400 {source="Orphanet:199296", source="MONDO:equivalentTo", source="Orphanet:199296/e", source="DOID:0080150"} xref: Orphanet:199296 {source="MONDO:equivalentTo", source="OMIM:201400"} xref: SCTID:237692001 {source="MONDO:equivalentTo"} xref: UMLS:C0342388 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:201400"} is_a: EFO:0001380 {source="DOID:0080150", source="EFO:1001979", source="MONDO:Redundant"} ! hypopituitarism is_a: MONDO:0019824 {source="MONDO:Redundant", source="Orphanet:199296"} ! non-acquired pituitary hormone deficiency relationship: has_characteristic MONDO:0021128 ! has an isolated presentation property_value: exactMatch DOID:0080150 property_value: exactMatch http://identifiers.org/mesh/C535668 property_value: exactMatch http://identifiers.org/snomedct/237692001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342388 property_value: exactMatch https://omim.org/entry/201400 property_value: exactMatch Orphanet:199296 property_value: IAO:0000117 "Gautier Koscielny" xsd:string property_value: IAO:0000589 "congenital isolated adrenocorticotropic hormone deficiency (disease)" xsd:string [Term] id: EFO:1001980 name: Alpha-methylacyl-CoA racemase deficiency def: "A rare disorder caused by mutation in the AMACR gene. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy." [] def: "A rare disorder caused by mutation in the AMACR gene. Racemization is the prerequisite to beta-oxidation for branched chain fatty acids and bile acids. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy." [https://github.com/monarch-initiative/mondo/issues/2632, NCIT:C119677] synonym: "alpha-methylacyl-CoA racemase deficiency" EXACT [] {comment="preferred label from MONDO"} synonym: "alpha-methylacyl-CoA racemase deficiency" EXACT [MONDO:Lexical, OMIM:614307] synonym: "AMACR" EXACT ABBREVIATION [NCIT:C119677] synonym: "AMACR deficiency" EXACT [DOID:0060602, https://www.clinicalgenome.org/affiliation/40049/, OMIM:614307] synonym: "AMACRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614307] xref: DOID:0060602 {source="MONDO:equivalentTo"} xref: MESH:C565768 {source="MONDO:equivalentTo"} xref: MeSH:C565768 xref: MONDO:0013681 xref: NCIT:C119677 {source="MONDO:equivalentTo"} xref: NCIt:C119677 xref: OMIM:614307 {source="MONDO:equivalentTo", source="DOID:0060602"} xref: SCTID:700463002 {source="MONDO:equivalentTo"} xref: UMLS:C3280428 {source="NCIT:C119677", source="MONDO:equivalentTo", source="OMIM:614307"} is_a: MONDO:0019233 {source="https://github.com/monarch-initiative/mondo/issues/1196", source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of peroxisomal beta oxidation property_value: exactMatch DOID:0060602 property_value: exactMatch http://identifiers.org/mesh/C565768 property_value: exactMatch http://identifiers.org/snomedct/700463002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280428 property_value: exactMatch https://omim.org/entry/614307 property_value: exactMatch NCIT:C119677 property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001981 name: Aminoacylase 1 deficiency def: "Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms." [Orphanet:137754] def: "Deficiency of the aminoacylase-1 enzyme" [] subset: gard_rare subset: ordo_disease {source="Orphanet:137754"} synonym: "ACY1 deficiency" RELATED [GARD:0009741] synonym: "ACY1D" EXACT ABBREVIATION [GARD:0009741, MESH:C538246, MONDO:Lexical, OMIM:609924, Orphanet:137754] synonym: "aminoacylase 1 deficiency" EXACT [] {comment="preferred label from MONDO"} synonym: "aminoacylase 1 deficiency" EXACT [MONDO:Lexical, OMIM:609924] synonym: "Aminoacylase-1 deficiency" EXACT [] synonym: "Deficiency of the aminoacylase-1 enzyme" EXACT [] synonym: "deficiency of the aminoacylase-1 enzyme" RELATED [GARD:0009741, MESH:C538246] synonym: "N-acyl-L-amino acid amidohydrolase deficiency" EXACT [Orphanet:137754] synonym: "neurological conditions associated with aminoacylase 1 deficiency" EXACT [Orphanet:137754] xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538246 {source="MONDO:equivalentTo"} xref: MeSH:C538246 xref: MONDO:0012368 xref: OMIM:609924 {source="Orphanet:137754", source="MONDO:equivalentTo", source="Orphanet:137754/e", source="GARD:0009741"} xref: Orphanet:137754 {source="OMIM:609924", source="MONDO:equivalentTo", source="GARD:0009741"} xref: SCTID:709282004 {source="MONDO:equivalentTo"} xref: UMLS:C1835922 {source="OMIM:609924", source="Orphanet:137754", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="GARD:0009741"} is_a: MONDO:0017686 {source="EFO:1001981", source="Orphanet:137754"} ! inborn aminoacylase deficiency is_a: Orphanet:308448 ! Aminoacylase deficiency property_value: exactMatch http://identifiers.org/mesh/C538246 property_value: exactMatch http://identifiers.org/snomedct/709282004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835922 property_value: exactMatch https://omim.org/entry/609924 property_value: exactMatch Orphanet:137754 property_value: IAO:0000117 "Gautier Koscielny" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9741/aminoacylase-1-deficiency xsd:anyURI {source="GARD:0009741"} [Term] id: EFO:1001982 name: Antisynthetase syndrome def: "Antisynthetase (AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS)." [Orphanet:81] def: "Antisynthetase (AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD, see this term), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS)." [] subset: gard_rare {source="GARD:0000735"} subset: ordo_disease {source="Orphanet:81"} synonym: "Anti-Jo1 syndrome" EXACT [] synonym: "anti-Jo1 syndrome" EXACT [Orphanet:81] synonym: "Anti-Synthetase Syndrome" EXACT [] synonym: "antisynthetase syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "AS syndrome" EXACT [Orphanet:81] xref: DOID:0080744 {source="MONDO:equivalentTo"} xref: ICD9:279.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10068801 {source="Orphanet:81/e", source="Orphanet:81"} xref: MESH:C537778 {source="Orphanet:81/e", source="MONDO:equivalentTo", source="Orphanet:81"} xref: MeSH:C537778 xref: MONDO:0019344 xref: ORDO:81 xref: Orphanet:81 {source="MONDO:equivalentTo"} xref: SCTID:445187004 {source="MONDO:equivalentTo"} xref: UMLS:C2609059 {source="Orphanet:81/e", source="MONDO:equivalentTo", source="Orphanet:81"} is_a: MONDO:0020122 {source="Orphanet:81"} ! acquired idiopathic inflammatory myopathy property_value: closeMatch http://identifiers.org/meddra/10068801 property_value: exactMatch DOID:0080744 property_value: exactMatch http://identifiers.org/mesh/C537778 property_value: exactMatch http://identifiers.org/snomedct/445187004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2609059 property_value: exactMatch Orphanet:81 property_value: IAO:0000117 "Gautier Koscielny" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/735/antisynthetase-syndrome xsd:anyURI {source="GARD:0000735"} [Term] id: EFO:1001983 name: Autosomal recessive Charcot Marie Tooth disease type 2X def: "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the SPG11 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:466775"} synonym: "ARCMT2X" EXACT ABBREVIATION [Orphanet:466775] synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2X" EXACT [DOID:0110176] synonym: "autosomal recessive Charcot Marie Tooth disease type 2X" RELATED [Orphanet:466775] synonym: "Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation" EXACT [] synonym: "autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation" EXACT [Orphanet:466775] synonym: "autosomal recessive Charcot-Marie-Tooth disease type 2X" RELATED [Orphanet:466775] synonym: "Charcot-Marie-Tooth disease axonal type 2X" EXACT [] {comment="preferred label from MONDO"} synonym: "Charcot-Marie-Tooth disease caused by mutation in SPG11" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2X" RELATED [OMIM:616668] synonym: "Charcot-Marie-Tooth disease, axonal, type 2X" RELATED [OMIM:616668] synonym: "Charcot-Marie-Tooth disease, axonal, type 2x" EXACT [OMIM:616668] synonym: "Charcot-Marie-Tooth neuropathy type 2X" EXACT [DOID:0110176] synonym: "Charcot-Marie-Tooth neuropathy, type 2X" RELATED [OMIM:616668] synonym: "CMT2X" EXACT ABBREVIATION [OMIM:616668, Orphanet:466775] synonym: "SPG11 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110176 {source="MONDO:equivalentTo"} xref: MONDO:0014726 xref: OMIM:616668 {source="Orphanet:466775", source="MONDO:equivalentTo", source="DOID:0110176"} xref: ORDO:466775 xref: Orphanet:466775 {source="MONDO:equivalentTo", source="DOID:0110176"} xref: UMLS:C4225253 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018993 {source="DOID:0110176", source="EFO:1001983"} ! Charcot-Marie-Tooth disease type 2 property_value: exactMatch DOID:0110176 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225253 property_value: exactMatch https://omim.org/entry/616668 property_value: exactMatch Orphanet:466775 property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001984 name: cardiac amyloidosis def: "Cardiac amyloidosis is a condition whereby cardiac tissue is infiltrated by amyloid fibrils. Patients with cardiac amyloidosis commonly develop diastolic and systolic dysfunction, progressive heart failure (HF), arrhythmias, and symptoms of orthostatic hypotension. [PMID:28279425]" [] comment: HP:0030843 synonym: "amyloid cardiomyopathy" EXACT [] synonym: "Amyloid heart disease" EXACT [] synonym: "Amyloid heart muscle disease" EXACT [] synonym: "Amyloidosis of heart" EXACT [] synonym: "Senile cardiac amyloidosis" EXACT [] xref: MedDRA:10007509 xref: SNOMEDCT:16573007 xref: UMLS:C0268407 xref: Wikipedia:Cardiac_amyloidosis is_a: EFO:1001875 ! amyloidosis property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001985 name: congenital fibrosis of the extraocular muscles comment: also in HPO HP_0001491 synonym: "CFEOM" EXACT [] synonym: "Congenital fibrosis of extraocular muscles" EXACT [] synonym: "congenital fibrosis of the extraocular muscles" EXACT [] synonym: "Congenital ophthalmoplegia" EXACT [] synonym: "Tukel syndrome" EXACT [] xref: DOID:0080143 xref: MeSH:C580012 xref: OMIM:135700 xref: OMIM:600638 xref: OMIM:602078 xref: OMIM:609384 xref: OMIM:609428 xref: OMIM:616219 xref: ORDO:45358 xref: UMLS:C1302995 is_a: EFO:1001990 ! ocular motility disease property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001986 name: connective tissue disease def: "A disease involving the connective tissue." [https://orcid.org/0000-0002-6601-2165] def: "A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects." [] comment: Following clinical usage of the term 'connective tissue disorder' this grouping excludes some diseases affecting tissues classically considered to be connective tissue, such as bone. subset: rare_grouping synonym: "connective tissue disease" EXACT [MONDO:patterns/location] synonym: "connective tissue disease or disorder" EXACT [MONDO:patterns/location] synonym: "connective tissue diseases" EXACT [NCIT:C26729] synonym: "Connective Tissue Disorder" EXACT [] synonym: "connective tissue disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "connective tissue disorder" EXACT [DOID:65] synonym: "Connective Tissue Disorders" EXACT [] synonym: "connective tissue disorders" EXACT [NCIT:C26729] synonym: "disease of connective tissue" EXACT [MONDO:patterns/location_top] synonym: "disease of connective tissues" EXACT [] synonym: "disease or disorder of connective tissue" EXACT [] synonym: "disease, connective tissue" EXACT [NCIT:C26729] synonym: "disorder of connective tissue" EXACT [DOID:65, MONDO:patterns/location_top] synonym: "primary disorder of connective tissue" EXACT [NCIT:C26729] synonym: "tissue disease, connective" EXACT [NCIT:C26729] xref: DOID:65 {source="MONDO:equivalentTo"} xref: ICD10:M35 xref: ICD10:M95 xref: MESH:D003240 {source="DOID:65", source="MONDO:equivalentTo"} xref: MeSH:D003240 xref: MONDO:0003900 xref: NCIT:C26729 {source="DOID:65", source="MONDO:equivalentTo"} xref: NCIt:C26729 xref: SCTID:105969002 {source="DOID:65", source="MONDO:equivalentTo"} xref: UMLS:C0009782 {source="NCIT:C26729", source="DOID:65", source="MONDO:equivalentTo"} is_a: EFO:0000408 ! disease property_value: exactMatch DOID:65 property_value: exactMatch http://identifiers.org/mesh/D003240 property_value: exactMatch http://identifiers.org/snomedct/105969002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009782 property_value: exactMatch NCIT:C26729 property_value: excluded_subClassOf MONDO:0002081 {source="DOID:65"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Gautier Koscielny" xsd:string property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3570 xsd:anyURI [Term] id: EFO:1001987 name: dropped head syndrome def: "Dropped head syndrome (DHS) is characterized by severe kyphotic deformity of the cervico-thoracic spine. [ PMID:23637681 ]" [] subset: ordo_clinical_syndrome {source="Orphanet:447881"} synonym: "DHS" EXACT [] synonym: "Idiopathic dropped head syndrome" EXACT [] synonym: "idiopathic dropped head syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Isolated Neck Extensor Myopathy" EXACT [] synonym: "isolated neck extensor myopathy" EXACT [Orphanet:447881] xref: MedDRA:10072442 xref: MONDO:0018654 xref: ORDO:447881 xref: Orphanet:447881 {source="MONDO:equivalentTo"} xref: UMLS:C3266164 xref: UMLS:CN237712 {source="MONDO:equivalentTo"} is_a: EFO:0002970 ! muscular disease is_a: MONDO:0016105 {source="Orphanet:447881"} ! acquired skeletal muscle disease is_a: MONDO:0700007 ! idiopathic disease property_value: definition:citation PMID:23637681 xsd:string property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237712 property_value: exactMatch Orphanet:447881 property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001988 name: Juvenile Polymyositis def: "An idiopathic inflammatory myopathy of childhood resulting in muscle weakness." [NCIT:C114358] subset: gard_rare {source="GARD:0012742"} subset: ordo_disease {source="Orphanet:93568"} synonym: "JPM" EXACT ABBREVIATION [NCIT:C114358] synonym: "juvenile PM" EXACT [Orphanet:93568] synonym: "juvenile polymyositis" EXACT [] {comment="preferred label from MONDO"} xref: MedDRA:10076673 xref: MONDO:0019734 xref: NCIT:C114358 {source="MONDO:equivalentTo"} xref: NCIt:C114358 xref: Orphanet:93568 {source="MONDO:equivalentTo"} xref: SCTID:738526005 {source="MONDO:equivalentTo"} xref: UMLS:C3826988 {source="MONDO:equivalentTo", source="NCIT:C114358"} is_a: EFO:0003063 {source="EFO:1001988", source="NCIT:C114358"} ! polymyositis is_a: MONDO:0018010 {source="Orphanet:93568"} ! juvenile idiopathic inflammatory myopathy property_value: exactMatch http://identifiers.org/snomedct/738526005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3826988 property_value: exactMatch NCIT:C114358 property_value: exactMatch Orphanet:93568 property_value: excluded_subClassOf MONDO:0019724 {source="MONDO:Redundant", source="Orphanet:93568"} property_value: IAO:0000117 "Gautier Koscielny" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12742/juvenile-polymyositis xsd:anyURI {source="GARD:0012742"} [Term] id: EFO:1001989 name: Monomelic amyotrophy def: "Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms." [Orphanet:65684] comment: ORDO term subset: gard_rare {source="GARD:0009697"} subset: ordo_disease {source="Orphanet:65684"} synonym: "amyotrophy, monomelic" RELATED [OMIM:602440] synonym: "benign focal amyotrophy" EXACT [Orphanet:65684] synonym: "Hirayama disease" EXACT [OMIM:602440, Orphanet:65684] synonym: "JMADUE" EXACT ABBREVIATION [Orphanet:65684] synonym: "juvenile muscular atrophy of distal upper extremity" EXACT [Orphanet:65684] synonym: "juvenile muscular atrophy of the distal upper limb" EXACT [Orphanet:65684] synonym: "monomelic amyotrophy" EXACT [] {comment="preferred label from MONDO"} synonym: "spinal muscular atrophy juvenile nonprogressive" RELATED [GARD:0009697] synonym: "spinal muscular atrophy, juvenile, nonprogressive" RELATED [OMIM:602440] xref: ICD10:G12.8 xref: MedDRA:10069681 {source="Orphanet:65684/e", source="Orphanet:65684"} xref: MESH:C538253 {source="Orphanet:65684/e", source="MONDO:equivalentTo", source="Orphanet:65684"} xref: MeSH:C538253 xref: MONDO:0011224 xref: OMIM:602440 {source="Orphanet:65684/e", source="MONDO:equivalentTo", source="Orphanet:65684"} xref: ORDO:65684 xref: Orphanet:65684 {source="MONDO:equivalentTo", source="OMIM:602440"} xref: UMLS:C1865384 {source="Orphanet:65684/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:602440", source="Orphanet:65684"} is_a: MONDO:0020129 {source="Orphanet:65684"} ! acquired motor neuron disease property_value: closeMatch http://identifiers.org/meddra/10069681 property_value: exactMatch http://identifiers.org/mesh/C538253 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865384 property_value: exactMatch https://omim.org/entry/602440 property_value: exactMatch Orphanet:65684 property_value: IAO:0000117 "Gautier Koscielny" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9697/monomelic-amyotrophy xsd:anyURI {source="GARD:0009697"} [Term] id: EFO:1001990 name: ocular motility disease synonym: "disorder of eye movements" EXACT [DOID:1279] synonym: "eye movement disorder" EXACT [DOID:1279] synonym: "ocular motility disease" EXACT [] {comment="preferred label from MONDO"} xref: DOID:1279 {source="MONDO:equivalentTo"} xref: ICD9:378.9 {source="MONDO:equivalentTo", source="DOID:1279", source="MONDO:i2s"} xref: MeSH:D015835 xref: MONDO:0001584 xref: SCTID:45030009 {source="MONDO:equivalentTo", source="DOID:1279"} xref: UMLS:C0028850 is_a: EFO:0003966 ! eye disease is_a: MONDO:0003569 {source="DOID:1279"} ! cranial nerve neuropathy property_value: exactMatch DOID:1279 property_value: exactMatch http://identifiers.org/snomedct/45030009 property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001991 name: pneumonitis def: "An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia." [NCIT:C113159] def: "An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia. [NCIt: ]" [] comment: Pneumonitis typically refers to non-infectious inflammation, whereas pneumonia refers to infectious synonym: "inflammation of lung parenchyma" EXACT [] synonym: "Inflammation of the lung parenchyma" EXACT [] synonym: "Inflammation of the lungs" EXACT [] synonym: "lung parenchyma inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "pneumonitis" EXACT [] {comment="preferred label from MONDO"} synonym: "pneumonitis" EXACT [NCIT:C113159] xref: MedDRA:10035742 xref: MONDO:0043905 xref: NCIT:C113159 {source="MONDO:equivalentTo"} xref: NCIt:C113159 xref: SCTID:205237003 {source="MONDO:equivalentTo"} xref: UMLS:C3714636 is_a: EFO:0003818 {source="MONDO:Redundant", source="NCIT:C113159/inferred"} ! lung disease is_a: EFO:0009903 ! inflammatory disease property_value: exactMatch http://identifiers.org/snomedct/205237003 property_value: exactMatch NCIT:C113159 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001992 name: Scapuloperoneal spinal muscular atrophy subset: ordo_disease {source="Orphanet:431255"} synonym: "amyotrophy, neurogenic scapuloperoneal, New England type" RELATED [OMIM:181405] synonym: "neurogenic scapuloperoneal amyotrophy, New England type" EXACT [Orphanet:431255] synonym: "Scapuloperoneal Form of Spinal Muscular Atrophy" EXACT [] synonym: "scapuloperoneal neuronopathy" EXACT [Orphanet:431255] synonym: "scapuloperoneal spinal muscular atrophy" EXACT [MONDO:Lexical, OMIM:181405] synonym: "scapuloperoneal spinal muscular atrophy, autosomal dominant" EXACT [] {comment="preferred label from MONDO"} synonym: "SPSMA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:181405, Orphanet:431255] xref: DOID:0111552 {source="MONDO:equivalentTo"} xref: ICD10:G12.1 xref: ICD9:335.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MeSH:D009134 xref: MONDO:0008408 xref: OMIM:181405 {source="Orphanet:431255", source="MONDO:equivalentTo", source="Orphanet:431255/e"} xref: ORDO:431255 xref: Orphanet:431255 {source="MONDO:equivalentTo", source="OMIM:181405"} xref: SCTID:230248006 {source="MONDO:equivalentTo"} xref: UMLS:C0751335 is_a: EFO:0008525 {source="OMIM:181405/inferred", source="Orphanet:431255", source="Orphanet:431255/inferred"} ! spinal muscular atrophy is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0024257 ! hereditary motor neuron disease is_a: Orphanet:98505 ! Genetic motor neuron disease property_value: exactMatch DOID:0111552 property_value: exactMatch http://identifiers.org/snomedct/230248006 property_value: exactMatch https://omim.org/entry/181405 property_value: exactMatch Orphanet:431255 property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001993 name: scleroderma def: "A chronic disorder marked by hardening and thickening of the skin. Scleroderma can be localized or it can affect the entire body (systemic)." [] def: "Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc)." [Orphanet:801] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:801"} synonym: "dermatosclerosis" EXACT [DOID:419] synonym: "linear scleroderma" EXACT [] synonym: "localized scleroderma" EXACT [] synonym: "morphea" EXACT [] synonym: "Morphea \"en coup de sabre\"" EXACT [] synonym: "scleroderma" EXACT [MONDO:0002906, MONDO:ambiguous, NCIT:C26746] synonym: "scleroderma" EXACT [] {comment="preferred label from MONDO"} synonym: "scleroderma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:419 {source="MONDO:equivalentTo"} xref: HP:0100324 {source="MONDO:otherHierarchy"} xref: MedDRA:10027979 xref: MedDRA:10039710 {source="Orphanet:801", source="Orphanet:801/e"} xref: MeSH:D012594 xref: MONDO:0019340 xref: NCIt:C0011644 xref: NCIT:C26746 {source="DOID:419", source="MONDO:equivalentTo"} xref: Orphanet:801 {source="MONDO:equivalentTo"} xref: UMLS:C0011644 is_a: EFO:0005755 {source="DOID:419", source="NCIT:C26746"} ! rheumatic disease is_a: EFO:0005809 {source="DOID:419/inferred", source="MONDO:Redundant", source="NCIT:C26746"} ! type II hypersensitivity reaction disease is_a: Orphanet:98702 ! Connective tissue disease with eye involvement property_value: closeMatch http://identifiers.org/meddra/10039710 property_value: exactMatch DOID:419 property_value: exactMatch NCIT:C26746 property_value: exactMatch Orphanet:801 property_value: IAO:0000117 "Gautier Koscielny" xsd:string property_value: IAO:0000589 "scleroderma (disease)" xsd:string [Term] id: EFO:1001994 name: Scleroderma Polymyositis Overlap Syndrome def: "A rare autoimmune disorder in which patients present with overlapping symptoms of systemic scleroderma and polymyositis or dermatomyositis." [] synonym: "polymyositis in scleroderma" EXACT [] synonym: "scleroderma/polimyositis overlap" EXACT [] synonym: "scleromyositis" EXACT [] xref: NCIt:C113723 xref: UMLS:C2103575 xref: Wikipedia:Scleromyositis is_a: EFO:0003063 ! polymyositis is_a: EFO:1001993 ! scleroderma is_a: MONDO:0020127 ! hereditary peripheral neuropathy is_a: MONDO:0100191 ! inherited kidney disorder is_a: MONDO:0700223 ! hereditary skeletal muscle disorder property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001995 name: Sclerodermatomyositis def: "Sclerodermatomyositis is an overlap syndrome of myositis and scleroderma, with dermatological, muscular and joint involvement, but may also present with ocular manifestations. [ PMID:PMID:27923520 ]" [] synonym: "Scleroderma Polymyositis Overlap Syndrome" EXACT [] xref: UMLS:C0343102 is_a: EFO:0000398 ! dermatomyositis is_a: EFO:1001993 ! scleroderma is_a: MONDO:0020127 ! hereditary peripheral neuropathy is_a: MONDO:0100118 ! hereditary skin disorder is_a: MONDO:0100191 ! inherited kidney disorder is_a: MONDO:0700223 ! hereditary skeletal muscle disorder property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001996 name: Thalassemia def: "An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." [NCIT:P378] synonym: "sickle-cell thalassemia with crisis" EXACT [DOID:10241, ICD9CM:282.42] synonym: "sickle-cell thalassemia without crisis" EXACT [DOID:10241, ICD9CM:282.41] synonym: "thalassemia" EXACT [] {comment="preferred label from MONDO"} synonym: "thalassemia Hb-S disease with crisis" EXACT [DOID:10241] synonym: "thalassemia Hb-S disease without crisis" EXACT [DOID:10241] synonym: "α- and β-thalassemia" EXACT [] xref: DOID:10241 {source="MONDO:equivalentTo"} xref: ICD10CM:D56 {source="MONDO:equivalentTo", source="DOID:10241"} xref: ICD9:282.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10241"} xref: ICD9:282.40 {source="DOID:10241"} xref: ICD9:282.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10054658 xref: MESH:D013789 {source="MONDO:equivalentTo", source="DOID:10241"} xref: MeSH:D013789 xref: MONDO:0000984 xref: NCIT:C35069 {source="MONDO:equivalentTo", source="DOID:10241"} xref: NCIt:C35069 xref: SCTID:40108008 {source="MONDO:equivalentTo", source="DOID:10241"} xref: UMLS:C0039730 {source="MONDO:equivalentTo", source="NCIT:C35069", source="DOID:10241"} is_a: MONDO:0019050 {source="EFO:1001996", source="MESH:D013789", source="NCIT:C35069"} ! inherited hemoglobinopathy is_a: Orphanet:183651 ! Rare constitutional anemia property_value: exactMatch DOID:10241 property_value: exactMatch http://identifiers.org/mesh/D013789 property_value: exactMatch http://identifiers.org/snomedct/40108008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039730 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D56 property_value: exactMatch NCIT:C35069 property_value: excluded_subClassOf MONDO:0006025 {source="DOID:10241"} property_value: IAO:0000117 "Gautier Koscielny" xsd:string [Term] id: EFO:1001997 name: obsolete_triple-A syndrome comment: DOID xref and synonyms synonym: "Achalasia-Addisonianism-Alacrimia syndrome" EXACT [] synonym: "Allgrove Syndrome" EXACT [] synonym: "triple-A syndrome" EXACT [] xref: DOID:0050602 xref: OMIM:231550 xref: ORDO:869 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.98" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication\nUse http://www.orpha.net/ORDO/Orphanet_869\nLabel : Triple A syndrome" xsd:string property_value: IAO:0000117 "Gautier Koscielny" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://www.orpha.net/ORDO/Orphanet_869 [Term] id: EFO:1001998 name: complex regional pain syndrome def: "Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb." [Orphanet:83452] subset: gard_rare subset: ordo_disease {source="Orphanet:83452"} synonym: "complex regional pain syndrome" EXACT [] {comment="preferred label from MONDO"} synonym: "Complex regional pain syndromes" EXACT [DOID:3223] synonym: "CRPS" RELATED ABBREVIATION [GARD:0004647] synonym: "reflex sympathetic dystrophy" RELATED [GARD:0004647] xref: DOID:3223 {source="MONDO:equivalentTo"} xref: MedDRA:10064332 {source="Orphanet:83452", source="Orphanet:83452/e"} xref: MESH:D020918 {source="DOID:3223", source="Orphanet:83452", source="MONDO:equivalentTo", source="Orphanet:83452/e"} xref: MeSH:D020918 xref: MONDO:0019369 xref: Orphanet:83452 {source="MONDO:equivalentTo", source="GARD:0004647"} xref: SCTID:128200000 {source="DOID:3223", source="MONDO:equivalentTo"} xref: UMLS:C0458219 {source="DOID:3223", source="Orphanet:83452", source="MONDO:equivalentTo", source="Orphanet:83452/e"} is_a: EFO:0009387 ! peripheral nervous system disease is_a: MONDO:0024317 {source="MONDO:cjm"} ! chronic pain syndrome property_value: closeMatch http://identifiers.org/meddra/10064332 property_value: exactMatch DOID:3223 property_value: exactMatch http://identifiers.org/mesh/D020918 property_value: exactMatch http://identifiers.org/snomedct/128200000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0458219 property_value: exactMatch Orphanet:83452 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1001999 name: systemic juvenile idiopathic arthritis def: "Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio." [Orphanet:85414] subset: gard_rare {source="GARD:0010966"} subset: ordo_disease {source="Orphanet:85414"} synonym: "sJIA" EXACT [NCIT:C119031] synonym: "SoJIA" EXACT [PMID:23827249] synonym: "Still disease" EXACT [Orphanet:85414] synonym: "Still's disease (formerly)" RELATED [GARD:0010966] synonym: "systemic juvenile idiopathic arthritis" RELATED [GARD:0010966] synonym: "systemic onset juvenile idiopathic arthritis" RELATED [GARD:0010966] synonym: "systemic onset juvenile rheumatoid arthritis" RELATED [GARD:0010966] synonym: "systemic polyarthritis" EXACT [Orphanet:85414] synonym: "systemic-onset JIA" EXACT [Orphanet:85414] synonym: "systemic-onset juvenile idiopathic arthritis" EXACT [] {comment="preferred label from MONDO"} xref: ICD10:M08.2 xref: MedDRA:10079454 xref: MESH:C565798 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: MONDO:0019434 xref: NCIT:C119031 {source="MONDO:equivalentTo"} xref: OMIM:604302 xref: ORDO:Orphanet_85414 xref: Orphanet:85414 {source="MONDO:equivalentTo"} xref: SCTID:201796004 {source="MONDO:equivalentTo"} is_a: EFO:0002609 {source="NCIT:C119031", source="Orphanet:85414"} ! juvenile idiopathic arthritis is_a: MONDO:0019751 {source="PMID:23827249"} ! autoinflammatory syndrome property_value: exactMatch http://identifiers.org/mesh/C565798 property_value: exactMatch http://identifiers.org/snomedct/201796004 property_value: exactMatch NCIT:C119031 property_value: exactMatch Orphanet:85414 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10966/systemic-onset-juvenile-idiopathic-arthritis xsd:anyURI {source="GARD:0010966"} [Term] id: EFO:1002000 name: Takotsubo cardiomyopathy def: "Takotsubo cardiomyopathy (TC) is a recently described acute cardiac syndrome that mimics acute myocardial infarction and is characterized by ischemic chest symptoms, an elevated ST segment on electrocardiogram, and elevated levels of cardiac disease markers." [Orphanet:66529] def: "Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation." [] subset: ordo_disease {source="Orphanet:66529"} synonym: "acute stress cardiomyopathy" RELATED [GARD:0009400] synonym: "Ampulla cardiomyopathy" EXACT [] synonym: "ampulla cardiomyopathy" EXACT [Orphanet:66529] synonym: "Apical ballooning syndrome" EXACT [] synonym: "apical ballooning syndrome" EXACT [Orphanet:66529] synonym: "ASC" RELATED ABBREVIATION [GARD:0009400] synonym: "Ballooning cardiomyopathy" EXACT [] synonym: "ballooning cardiomyopathy" EXACT [Orphanet:66529] synonym: "Broken heart syndrome" EXACT [] synonym: "broken heart syndrome" EXACT [Orphanet:66529] synonym: "broken-heart syndrome" RELATED [GARD:0009400] synonym: "left ventricular transient apical ballooning" RELATED [GARD:0009400] synonym: "Stress cardiomyopathy" EXACT [] synonym: "stress cardiomyopathy" EXACT [Orphanet:66529] synonym: "stress-induced cardiomyopathy" RELATED [GARD:0009400] synonym: "Tako tsubo syndrome" RELATED [GARD:0009400] synonym: "Tako-Tsubo cardiomyopathy" EXACT [] synonym: "Tako-tsubo cardiomyopathy" EXACT [] {comment="preferred label from MONDO"} synonym: "Tako-Tsubo syndrome" EXACT [Orphanet:66529] synonym: "Takotsubo cardiomyopathy" EXACT [Orphanet:66529] synonym: "Takotsubo syndrome" EXACT [Orphanet:66529] synonym: "transient antero-apical dyskinesia" RELATED [GARD:0009400] synonym: "Transient left ventricular apical ballooning syndrome" EXACT [] synonym: "transient left ventricular apical ballooning syndrome" EXACT [Orphanet:66529] xref: HP:0011665 xref: ICD9:429.83 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D054549 {source="MONDO:equivalentTo"} xref: MeSH:D054549 xref: MONDO:0019018 xref: NCIT:C85181 {source="MONDO:equivalentTo"} xref: ORDO:Orphanet_66529 xref: Orphanet:66529 {source="MONDO:equivalentTo"} xref: SCTID:441541008 {source="MONDO:equivalentTo"} xref: UMLS:C1739395 {source="NCIT:C85181", source="MONDO:equivalentTo", source="Orphanet:66529"} xref: UMLS:CN205479 {source="MONDO:equivalentTo"} is_a: EFO:0000318 {source="EFO:1002000", source="MONDO:Redundant", source="NCIT:C85181", source="Orphanet:66529/inferred"} ! cardiomyopathy property_value: exactMatch http://identifiers.org/mesh/D054549 property_value: exactMatch http://identifiers.org/snomedct/441541008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1739395 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205479 property_value: exactMatch NCIT:C85181 property_value: exactMatch Orphanet:66529 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1002001 name: core binding factor acute myeloid leukemia def: "Acute myeloid leukemia characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis. CBF-AML accounts for 12 to 15 percent of acute myeloid leukemia cases in adults." [] synonym: "CBF-AML" EXACT [] xref: NCIt:C122688 is_a: EFO:0000222 ! acute myeloid leukemia [Term] id: EFO:1002002 name: high altitude pulmonary edema def: "a noncardiogenic form of pulmonary edema that develops in unacclimatized healthy individuals at altitudes above 2500–3000 m" [] synonym: "pulmonary edema of mountaineers\n" EXACT [] xref: MeSH:C535833 is_a: EFO:1001134 ! pulmonary edema property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1002003 name: hypersensitivity reaction disease def: "An immune system disease that has basis in dysregulation of the hypersensitivity reaction, an inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system." [ISBN-13:978-0-7817-3514-8] def: "An immune system disease that has material basis in abnormal immune responses, usually to allergens such as insect venom, dust mites, pollen, drugs or some foods." [] synonym: "allergic reaction" BROAD [NCIT:C3114] synonym: "hypersensitive" EXACT [NCIT:C3114] synonym: "hypersensitivity" EXACT [NCIT:C3114] synonym: "hypersensitivity reaction" EXACT [NCIT:C3114] synonym: "hypersensitivity reaction disease" EXACT [] {comment="preferred label from MONDO"} synonym: "sensitive" BROAD [NCIT:C3114] synonym: "sensitivity" BROAD [NCIT:C3114] xref: DOID:0060056 {source="MONDO:equivalentTo"} xref: MedDRA:10020751 xref: MONDO:0000605 xref: NCIT:C3114 {source="MONDO:equivalentTo"} xref: SCTID:421961002 xref: SCTID:473010000 {source="MONDO:equivalentTo"} is_a: EFO:0000540 {source="DOID:0060056", source="EFO:1002003", source="MONDO:Redundant", source="NCIT:C3114"} ! immune system disease property_value: exactMatch DOID:0060056 property_value: exactMatch http://identifiers.org/snomedct/473010000 property_value: exactMatch NCIT:C3114 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1002004 name: drug hypersensitivity syndrome def: "Severe drug eruption characterized by high fever, erythematous rash and inflammation of internal organ(s)." [] synonym: "DRESS syndrome" EXACT [] synonym: "Drug Reaction with Eosinophilia and Systemic Symptoms syndrome" EXACT [] xref: MedDRA:10073508 xref: MeSH:D063926 xref: SCTID:702809001 is_a: EFO:1002003 ! hypersensitivity reaction disease property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1002005 name: lumbar disc herniation def: "herniation or displacement of an intervertebral disc in the lumbar spinal region" [] synonym: "lumbar disk herniation" EXACT [] xref: MedDRA:10066256 is_a: EFO:1001800 ! Intervertebral Disc Displacement property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1002006 name: treatment-resistant hypertension def: "high blood pressure that remains above treatment goals in spite of the concurrent use of three antihypertensive agents from different classes" [] xref: PMID:28222112 is_a: EFO:0000537 ! hypertension property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1002007 name: obsolete_juvenile idiopathic arthritis def: "A group of chronic, inflammatory childhood disorders of unknown etiology that primarily involve joints." [] synonym: "Juvenile chronic arthritis" EXACT [] synonym: "Juvenile rheumatoid arthritis" EXACT [] xref: DOID:676 xref: MeSH:D001171 xref: NCIt:C114357 xref: UMLS:C0553662 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.88" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Use http://www.ebi.ac.uk/efo/EFO_0002609\nlabel: chronic childhood arthritis" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0002609 [Term] id: EFO:1002008 name: atypical teratoid rhabdoid tumor def: "Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children." [Orphanet:99966] subset: ordo_clinical_subtype {source="Orphanet:99966"} synonym: "AT/RT" EXACT [DOID:2129, NCIT:C6906] synonym: "ATRT" EXACT ABBREVIATION [Orphanet:99966] synonym: "ATT/RHT" EXACT [NCIT:C6906] synonym: "atypical teratoid rhabdoid tumor" EXACT [] {comment="preferred label from MONDO"} synonym: "atypical teratoid rhabdoid tumor" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "atypical teratoid/rhabdoid tumor" EXACT [NCIT:C6906] synonym: "atypical teratoid/rhabdoid tumor (morphologic abnormality)" EXACT [DOID:2129] synonym: "atypical teratoid/rhabdoid tumor (WHO grade IV)" EXACT [NCIT:C6906] synonym: "atypical teratoid/rhabdoid tumour" EXACT OMO:0003005 [] synonym: "atypical teratoid/rhabdoid tumour (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "atypical teratoid/rhabdoid tumour (WHO grade IV)" EXACT OMO:0003005 [] synonym: "central nervous system rhabdoid neoplasm" EXACT [NCIT:C6906] synonym: "central nervous system rhabdoid tumor" EXACT [MONDO:patterns/location, NCIT:C6906] synonym: "central nervous system rhabdoid tumour" EXACT OMO:0003005 [] synonym: "CNS rhabdoid neoplasm" EXACT [NCIT:C6906] synonym: "CNS rhabdoid tumor" EXACT [NCIT:C6906] synonym: "CNS rhabdoid tumour" EXACT OMO:0003005 [] synonym: "malignant brain rhabdoid neoplasm" EXACT [NCIT:C6906] synonym: "malignant brain rhabdoid tumor" EXACT [NCIT:C6906] synonym: "malignant brain rhabdoid tumour" EXACT OMO:0003005 [] synonym: "malignant rhabdoid neoplasm of brain" EXACT [NCIT:C6906] synonym: "malignant rhabdoid neoplasm of the brain" EXACT [NCIT:C6906] synonym: "malignant rhabdoid tumor of brain" EXACT [NCIT:C6906] synonym: "malignant rhabdoid tumor of the brain" EXACT [NCIT:C6906] synonym: "malignant rhabdoid tumour of brain" EXACT OMO:0003005 [] synonym: "malignant rhabdoid tumour of the brain" EXACT OMO:0003005 [] synonym: "primary malignant brain rhabdoid neoplasm" EXACT [NCIT:C6906] synonym: "primary malignant brain rhabdoid tumor" EXACT [NCIT:C6906] synonym: "primary malignant brain rhabdoid tumour" EXACT OMO:0003005 [] synonym: "primary malignant rhabdoid neoplasm of brain" EXACT [NCIT:C6906] synonym: "primary malignant rhabdoid neoplasm of the brain" EXACT [NCIT:C6906] synonym: "primary malignant rhabdoid tumor of brain" EXACT [NCIT:C6906] synonym: "primary malignant rhabdoid tumor of the brain" EXACT [NCIT:C6906] synonym: "primary malignant rhabdoid tumour of brain" EXACT OMO:0003005 [] synonym: "primary malignant rhabdoid tumour of the brain" EXACT OMO:0003005 [] synonym: "rhabdoid neoplasm of central nervous system" EXACT [NCIT:C6906] synonym: "rhabdoid neoplasm of CNS" EXACT [NCIT:C6906] synonym: "rhabdoid neoplasm of the central nervous system" EXACT [NCIT:C6906] synonym: "rhabdoid neoplasm of the CNS" EXACT [NCIT:C6906] synonym: "rhabdoid tumor of central nervous system" EXACT [NCIT:C6906] synonym: "rhabdoid tumor of CNS" EXACT [NCIT:C6906] synonym: "rhabdoid tumor of the central nervous system" EXACT [NCIT:C6906] synonym: "rhabdoid tumor of the CNS" EXACT [DOID:2129, NCIT:C6906] synonym: "rhabdoid tumor predisposition syndrome" RELATED [DOID:2129] synonym: "rhabdoid tumour of central nervous system" EXACT OMO:0003005 [] synonym: "rhabdoid tumour of CNS" EXACT OMO:0003005 [] synonym: "rhabdoid tumour of the central nervous system" EXACT OMO:0003005 [] synonym: "rhabdoid tumour of the CNS" EXACT OMO:0003005 [] synonym: "rhabdoid tumour predisposition syndrome" RELATED OMO:0003005 [] xref: DOID:2129 {source="MONDO:equivalentTo"} xref: EFO:1002008 {source="MONDO:equivalentTo"} xref: ICD10:C49.9 {source="Orphanet:99966", source="ORDO:99966/ntbt"} xref: ICDO:9508/3 {source="NCIT:C6906"} xref: MONDO:0020560 xref: NCIT:C6906 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:2129"} xref: NCIT:C6906 {source="MONDO:equivalentTo", source="DOID:2129"} xref: OMIM:609322 xref: ONCOTREE:ATRT {source="MONDO:equivalentTo"} xref: Orphanet:99966 {source="MONDO:equivalentTo"} xref: UMLS:C1266184 {source="NCIT:C6906", source="MONDO:equivalentTo", source="DOID:2129"} xref: UMLS:CN207484 {source="MONDO:equivalentTo"} is_a: EFO:0005701 {source="MONDO:Redundant", source="NCIT:C6906", source="Orphanet:99966"} ! malignant rhabdoid tumour is_a: MONDO:0002217 ! central nervous system sarcoma is_a: MONDO:0016708 {source="Orphanet:99966"} ! embryonal tumor of neuroepithelial tissue property_value: closeMatch http://identifiers.org/snomedct/128792003 property_value: exactMatch DOID:2129 property_value: exactMatch DOID:2129 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266184 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266184 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207484 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207484 property_value: exactMatch NCIT:C6906 property_value: exactMatch NCIT:C6906 property_value: exactMatch Orphanet:99966 property_value: excluded_subClassOf MONDO:0001657 {source="DOID:2129"} [Term] id: EFO:1002009 name: macular telangiectasia type 2 def: "Macular telangiectasia type 2 is a rare neurovascular degenerative retinal disease. MacTel cases typically present at 40–60 years of age with abnormal right-angled juxtafoveolar capillaries and parafoveal telangiectasias. MacTel is an uncommon disease with a 0.0045–0.1% population prevalence and no obvious sex bias. Retinal lesions typically co- present with MacTel, including retinal transparency, outer retinal and choroidal neovascularization, lamellar holes or foveal cysts, photoreceptor dysfunction, minimal exudation, yellow–white parafoveal crystals, and retinal pigment epithelium (RPE) pigmen- tation abnormalities and atrophy. Central vision impairment and decreased visual acuity are the usual clinical outcomes. MacTel is a bilateral disease, but asymmetry of the eyes for disease severity and presence of lesions is possible. The lesions also occur in 0.06–1.18% of the general population." [] synonym: "idiopathic juxtafoveal retinal telangiectasis type 2" EXACT [] synonym: "MacTel" EXACT [] xref: PMID:28250457 is_a: EFO:0003839 ! retinopathy relationship: EFO:0000784 UBERON:0000966 ! has_disease_location retina property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1002010 name: TP53 Positive Breast Carcinoma def: "A biologic subset of breast carcinoma defined by high expression of TP53" [] is_a: EFO:0000305 ! breast carcinoma property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1002011 name: adult onset asthma def: "Asthma that starts in adulthood" [] synonym: "adult-onset asthma" EXACT [] xref: MedDRA:10079507 is_a: MONDO:0004979 ! asthma property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1002012 name: ligament rupture def: "Partial or complete tear of a ligament, such as the Anterior Cruciate Ligament (ACL) of the knee." [] xref: MedDRA:10065433 is_a: EFO:1001986 ! connective tissue disease relationship: EFO:0000784 UBERON:0000211 ! has_disease_location ligament property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1002013 name: alcoholic pancreatitis def: "Acute or chronic inflammation of the pancreas due to excessive alcohol drinking. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics." [MESH:D019512] synonym: "alcoholic pancreatitis" EXACT [] {comment="preferred label from MONDO"} synonym: "alcoholic pancreatitis" EXACT [MESH:D019512] xref: DOID:4988 {source="MONDO:equivalentTo"} xref: MedDRA:10056977 xref: MESH:D019512 {source="MONDO:equivalentTo", source="DOID:4988"} xref: MeSH:D019512 xref: MONDO:0003232 xref: SCTID:445507008 {source="MONDO:equivalentTo", source="DOID:4988"} xref: UMLS:C0376670 {source="MONDO:equivalentTo", source="DOID:4988"} is_a: EFO:0000278 {source="DOID:4988", source="EFO:1002013", source="MESH:D019512", source="MONDO:Redundant"} ! pancreatitis is_a: MONDO:0021699 {source="MESH:D019512"} ! alcohol-induced disorders relationship: EFO:0000784 UBERON:0001264 ! has_disease_location pancreas property_value: exactMatch DOID:4988 property_value: exactMatch http://identifiers.org/mesh/D019512 property_value: exactMatch http://identifiers.org/snomedct/445507008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0376670 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1002014 name: melancholia def: "a subtype of depression characterised by the inability to find pleasure in positive things combined with agitation, insomnia, or decreased appetite" [] def: "A subtype of depression characterized by the inability to find pleasure in positive things combined with physical agitation, insomnia, or decreased appetite." [NCIT:P378] synonym: "depression with melancholic features" EXACT [NCIT:C34812] synonym: "Involutional Melancholia" EXACT [] synonym: "melancholia" EXACT [] {comment="preferred label from MONDO"} synonym: "Melancholia, Involutional" EXACT [] synonym: "Melancholias" EXACT [] synonym: "melancholic depression" EXACT [NCIT:C34812] xref: DOID:2848 {source="MONDO:equivalentObsolete"} xref: MedDRA:10027143 xref: MeSH:D003866 xref: MONDO:0002444 xref: NCIT:C34812 {source="MONDO:equivalentTo", source="DOID:2848"} xref: NCIt:C34812 xref: SNOMEDCT:35489007 is_a: MONDO:0002050 {source="DOID:2848", source="NCIT:C34812"} ! depressive disorder property_value: exactMatch NCIT:C34812 [Term] id: EFO:1002015 name: HPV-associated cervical carcinoma def: "a carcinoma that arises from the cervix and is caused by human papillomavirus infection" [] synonym: "HPV-related cervical carcinoma" EXACT [] synonym: "human papillomavirus-associated cervical carcinoma" EXACT [] synonym: "human papillomavirus-related cervical carcinoma" EXACT [] xref: NCIt:C27675 is_a: EFO:0001061 ! cervical carcinoma property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1002016 name: poorly differentiated follicular thyroid carcinoma def: "carcinomas of the follicular thyroid epithelium that retain sufficient differentiation to produce scattered small follicular structures and some thyroglobulin, but generally lack the usual morphologic characteristics of papillary and follicular carcinoma" [] is_a: EFO:1000489 ! Poorly Differentiated Thyroid Gland Carcinoma property_value: IAO:0000117 "Dani Welter" xsd:string [Term] id: EFO:1002017 name: differentiated thyroid carcinoma def: "Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass." [Orphanet:146] subset: ordo_disease {source="Orphanet:146"} synonym: "differentiated thyroid cancer" EXACT [NCIT:C7153] synonym: "differentiated thyroid carcinoma" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "differentiated thyroid carcinoma" EXACT [NCIT:C7153] synonym: "differentiated thyroid carcinoma" EXACT [] {comment="preferred label from MONDO"} synonym: "differentiated thyroid gland cancer" EXACT [NCIT:C7153] synonym: "differentiated thyroid gland carcinoma" EXACT [NCIT:C7153] synonym: "papillary or follicular thyroid carcinoma" EXACT [Orphanet:146] synonym: "thyroid gland differentiated carcinoma" EXACT [NCIT:C7153] synonym: "thyroid gland well differentiated carcinoma" EXACT [NCIT:C7153] synonym: "well differentiated thyroid carcinoma" EXACT [NCIT:C7153] synonym: "well differentiated thyroid gland carcinoma" EXACT [NCIT:C7153] synonym: "well-differentiated thyroid cancer" EXACT [NCIT:C7153] synonym: "well-differentiated thyroid carcinoma" EXACT [Orphanet:146] xref: DOID:0080525 {source="MONDO:equivalentTo"} xref: EFO:1002017 {source="MONDO:equivalentTo"} xref: ICD10:C73 {source="ORDO:146/ntbt", source="Orphanet:146"} xref: MONDO:0015447 xref: NCIT:C7153 {source="MONDO:equivalentTo"} xref: ONCOTREE:WDTC {source="MONDO:equivalentTo"} xref: Orphanet:146 {source="MONDO:equivalentTo"} xref: UMLS:C1337013 {source="NCIT:C7153", source="MONDO:equivalentTo"} is_a: EFO:0002892 {source="NCIT:C7153/inferred", source="Orphanet:146"} ! thyroid carcinoma property_value: exactMatch DOID:0080525 property_value: exactMatch DOID:0080525 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1337013 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1337013 property_value: exactMatch NCIT:C7153 property_value: exactMatch NCIT:C7153 property_value: exactMatch Orphanet:146 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1002018 name: bronchial disease def: "A disease involving the bronchus." [MONDO:patterns/location_top] def: "a respiratory system disease that has its manifestation in the bronchus" [] synonym: "bronchial disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "bronchospasm" EXACT [DOID:1176, NCIT:C34439] synonym: "bronchus disease" EXACT [MONDO:patterns/location] synonym: "bronchus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "disease of bronchus" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of bronchus" EXACT [] synonym: "disorder of bronchus" EXACT [MONDO:patterns/location_top] xref: DOID:1176 {source="MONDO:equivalentTo"} xref: ICD9:519.19 xref: MESH:D001982 {source="DOID:1176", source="MONDO:equivalentTo"} xref: MONDO:0001358 xref: NCIT:C34439 {source="MONDO:equivalentTo"} xref: SCTID:41427001 {source="DOID:1176", source="MONDO:equivalentTo"} xref: UMLS:C0006261 {source="DOID:1176", source="MONDO:equivalentTo"} is_a: EFO:0009433 {source="DOID:1176", source="MONDO:Redundant"} ! lower respiratory tract disease relationship: EFO:0000784 UBERON:0002185 ! has_disease_location bronchus property_value: exactMatch DOID:1176 property_value: exactMatch http://identifiers.org/mesh/D001982 property_value: exactMatch http://identifiers.org/snomedct/41427001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006261 property_value: exactMatch NCIT:C34439 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1002019 name: oligoarticular juvenile idiopathic arthritis def: "A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting between one and four separate joints during the first six months of disease." [] def: "Oligoarticular juvenile arthritis is the most common form of juvenile idiopathic arthritis (JIA), representing nearly 50% of cases." [Orphanet:85410] subset: ordo_disease {source="Orphanet:85410"} synonym: "Oligoarticular JIA" EXACT [Orphanet:85410] synonym: "oligoarticular JIA" EXACT [] synonym: "oligoarticular juvenile idiopathic arthritis" EXACT [] {comment="preferred label from MONDO"} synonym: "Pauciarticular chronic arthritis" EXACT [Orphanet:85410] synonym: "Pauciarticular JIA" EXACT [NCIT:C119032] synonym: "pauciarticular JIA" EXACT [] synonym: "Pauciarticular juvenile idiopathic arthritis" EXACT [NCIT:C119032] synonym: "pauciarticular juvenile idiopathic arthritis" EXACT [] synonym: "pauciarticular juvenile rheumatoid arthritis" EXACT [] synonym: "Pauciarticular juvenile rheumatoid arthritis (disorder)" EXACT [] synonym: "pauciarticular onset juvenile arthritis" EXACT [] synonym: "Pauciarticular onset juvenile chronic arthritis" EXACT [] xref: ICD10CM:M08.4 {source="MONDO:relatedTo", source="Orphanet:85410", source="Orphanet:85410/e"} xref: ICD9:714.32 xref: MESH:C536312 {source="MONDO:equivalentTo"} xref: MONDO:0019433 xref: NCIT:C119032 {source="MONDO:equivalentTo"} xref: NCIt:C119032 xref: Orphanet:85410 {source="MONDO:equivalentTo"} xref: SNOMEDCT:74391003 xref: UMLS:C2931171 {source="Orphanet:85410", source="MONDO:equivalentTo"} xref: UMLS:C3898105 {source="MONDO:equivalentTo", source="NCIT:C119032"} is_a: EFO:0002609 {source="MESH:C536312", source="NCIT:C119032", source="Orphanet:85410"} ! juvenile idiopathic arthritis relationship: EFO:0000784 EFO:0002662 ! has_disease_location dendritic cell-derived osteoclast property_value: exactMatch http://identifiers.org/mesh/C536312 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931171 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3898105 property_value: exactMatch NCIT:C119032 property_value: exactMatch Orphanet:85410 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: EFO:1002020 name: polyarticular juvenile idiopathic arthritis, rheumatoid factor negative def: "A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with negative serologic testing for rheumatoid factor." [] def: "Rheumatoid factor-negative polyarthritis is a term used to describe a group of poorly defined heterogenous conditions that incorporates forms of rheumatoid factor-negative polyarthritis and forms of oligoarticular arthritis that become extensive in less than 6 months after onset." [Orphanet:85408] subset: ordo_disease {source="Orphanet:85408"} synonym: "juvenile rheumatoid factor-negative polyarthritis" EXACT [Orphanet:85408] synonym: "polyarthritis without rheumatoid factor" EXACT [Orphanet:85408] synonym: "rheumatoid factor negative juvenile idiopathic arthritis" EXACT [] synonym: "rheumatoid factor-negative JIA" EXACT [Orphanet:85408] synonym: "rheumatoid factor-negative juvenile idiopathic arthritis" EXACT [] {comment="preferred label from MONDO"} xref: MONDO:0019432 xref: NCIt:C119033 xref: Orphanet:85408 {source="MONDO:equivalentTo"} is_a: EFO:0009730 {source="Orphanet:85408"} ! polyarticular juvenile idiopathic arthritis relationship: EFO:0000784 EFO:0002662 ! has_disease_location dendritic cell-derived osteoclast property_value: exactMatch Orphanet:85408 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:1002021 name: ankle injury def: "trauma to the ankle joint" [] xref: ICD10:S91 xref: ICD10:S93 xref: MedDRA:10002545 is_a: EFO:0004260 ! bone disease is_a: EFO:0009508 ! leg injury relationship: EFO:0000784 UBERON:0001474 ! has_disease_location bone element property_value: definition:citation PMID:28957384 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Annalisa Buniello" xsd:string [Term] id: EFO:1002022 name: Herpes simplex infection def: "A group of acute infections caused by herpes simplex virus type 1 or type 2 that is characterized by the development of one or more small fluid-filled vesicles with a raised erythematous base on the skin or mucous membrane. It occurs as a primary infection or recurs due to a reactivation of a latent infection. (Dorland, 27th ed.)" [MESH:D006561] def: "A viral infectious disease that results_in_formation_of lesions, located_in mouth, located_in face, located_in genitalia, or located_in hands, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which are transmitted_by direct contact with an active lesion or body fluid of an infected person. [ url:http://en.wikipedia.org/wiki/Herpes_simplex url:http://www.aad.org/public/publications/pamphlets/viral_herpes_simplex.html ]" [] synonym: "herpes simplex" RELATED [] synonym: "herpes simplex complex" RELATED [] synonym: "herpes simplex infection" RELATED [] synonym: "herpes simplex infectious disease" EXACT [] {comment="preferred label from MONDO"} synonym: "herpes simplex viral infection" RELATED [] synonym: "Herpesvirus hominis disease" EXACT [DOID:8566] synonym: "Simplexvirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Simplexvirus disease or disorder" EXACT [] synonym: "Simplexvirus infectious disease" EXACT [] xref: DOID:8566 {source="MONDO:equivalentTo"} xref: ICD10CM:B00 {source="DOID:8566", source="MONDO:equivalentTo"} xref: ICD9:054 {source="DOID:8566"} xref: ICD9:058.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D006561 {source="DOID:8566", source="MONDO:equivalentTo"} xref: MONDO:0004609 xref: SCTID:88594005 {source="DOID:8566", source="MONDO:equivalentTo"} xref: UMLS:C0019348 {source="DOID:8566", source="MONDO:equivalentTo"} is_a: EFO:0007309 {source="MESH:D006561", source="MONDO:Redundant"} ! Herpesviridae infectious disease property_value: exactMatch DOID:8566 property_value: exactMatch http://identifiers.org/mesh/D006561 property_value: exactMatch http://identifiers.org/snomedct/88594005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019348 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B00 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1002023 name: plantar wart def: "A wart in the plantar surface of the foot. It is caused by human papillomavirus." [NCIT:P378] synonym: "plantar wart" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "plantar wart" EXACT [] {comment="preferred label from MONDO"} synonym: "plantar wart" EXACT [DOID:13775, MTH:587] synonym: "verruca plantaris" EXACT [DOID:13775, NCIT:C26913] synonym: "verruca plantaris" EXACT [DOID:13775, MTHICD9_2006:078.19, NCIT:C26913] xref: COHD:137785 {source="MONDO:equivalentTo"} xref: DOID:13775 {source="MONDO:equivalentTo"} xref: EFO:1002023 {source="MONDO:equivalentTo"} xref: ICD10:B07.0 {source="MONDO:equivalentTo", source="DOID:13775"} xref: ICD10CM:B07.0 {source="MONDO:equivalentTo", source="DOID:13775"} xref: ICD9:078.12 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13775"} xref: ICD9:078.12 {source="MONDO:equivalentTo", source="i2s", source="DOID:13775"} xref: MONDO:0001795 xref: NCIT:C26913 {source="MONDO:equivalentTo", source="DOID:13775"} xref: SCTID:63440008 {source="MONDO:equivalentTo", source="DOID:13775"} xref: UMLS:C0042548 {source="MONDO:equivalentTo", source="NCIT:C26913", source="DOID:13775"} is_a: MONDO:0024294 ! skin disorder caused by infection is_a: MONDO:0024666 {source="NCIT:C26913"} ! benign epithelial skin neoplasm is_a: MONDO:0100329 ! primary viral infectious disease property_value: closeMatch http://identifiers.org/snomedct/154363006 property_value: exactMatch DOID:13775 property_value: exactMatch DOID:13775 property_value: exactMatch http://identifiers.org/snomedct/63440008 property_value: exactMatch http://identifiers.org/snomedct/63440008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042548 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042548 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B07.0 property_value: exactMatch NCIT:C26913 property_value: exactMatch NCIT:C26913 [Term] id: EFO:1002024 name: streptococcal pharyngitis def: "Inflammation of the throat due to Streptococcus pyogenes. [ NCI ]" [] xref: MedDRA:10042182 xref: NCIt:C116003 is_a: EFO:1001476 ! streptococcal infection property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1002025 name: measles def: "A highly contagious viral infection caused by the measles virus. Symptoms appear 8-12 days after exposure and include a rash, cough, fever and muscle pains that can last 4-7 days. Measles vaccines are available to provide prophylaxis, usually combined with mumps and rubella vaccines (MMR)." [NCIT:P378] def: "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom fever, has_symptom cough, has_symptom coryza, has_symptom conjunctivitis, and has_symptom maculopapular, erythematous rash. [ url:http://en.wikipedia.org/wiki/Measles ]" [] subset: gard_rare {source="GARD:0003434"} synonym: "measles" EXACT [] {comment="preferred label from MONDO"} synonym: "Measles morbillivirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Measles morbillivirus disease or disorder" EXACT [] synonym: "Measles morbillivirus infectious disease" EXACT [] synonym: "morbilli" EXACT [DOID:8622] synonym: "rubeola" RELATED [GARD:0003434] synonym: "rubeola infection" EXACT [NCIT:C96406] xref: DOID:8622 {source="MONDO:equivalentTo"} xref: ICD10CM:B05 {source="DOID:8622", source="MONDO:equivalentTo"} xref: ICD9:055 {source="DOID:8622"} xref: MedDRA:10027011 xref: MESH:D008457 {source="DOID:8622", source="MONDO:equivalentTo"} xref: MONDO:0004619 xref: NCIT:C96406 {source="DOID:8622", source="MONDO:equivalentTo"} xref: SCTID:14189004 {source="DOID:8622", source="MONDO:equivalentTo"} xref: UMLS:C0025007 {source="DOID:8622", source="NCIT:C96406", source="MONDO:equivalentTo"} is_a: EFO:0007377 ! Morbillivirus infectious disease relationship: disease_has_feature EFO:1001869 {source="MONDO:Wikidata"} ! dysentery property_value: exactMatch DOID:8622 property_value: exactMatch http://identifiers.org/mesh/D008457 property_value: exactMatch http://identifiers.org/snomedct/14189004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025007 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B05 property_value: exactMatch NCIT:C96406 property_value: gwas:trait "true" xsd:boolean property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3434/measles xsd:anyURI {source="GARD:0003434"} [Term] id: EFO:1002026 name: rubella def: "A viral infection caused by the rubella virus. It is initially manifested with flu-like symptoms that last one or two days, followed by the development of a characteristic red rash which lasts from one to five days. The rash first appears in the neck and face. It subsequently spreads to the rest of the body." [NCIT:P378] def: "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom rash on the face which spreads to the trunk and limbs, has_symptom fever, has_symptom lymphadenopathy, has_symptom joint pains, has_symptom headache, and has_symptom conjunctivitis. [ url:http://en.wikipedia.org/wiki/Rubella ]" [] subset: gard_rare {source="GARD:0004742"} synonym: "German measles" EXACT [] synonym: "german measles" EXACT [DOID:8781] synonym: "rubella" EXACT [] {comment="preferred label from MONDO"} synonym: "Rubella infection" EXACT [NCIT:C85051] synonym: "Rubella virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Rubella virus disease or disorder" EXACT [] synonym: "Rubella virus infectious disease" EXACT [] synonym: "three day measles" RELATED [GARD:0004742] synonym: "three-Day Measles" EXACT [NCIT:C85051] synonym: "three-day measles" EXACT [] xref: DOID:8781 {source="MONDO:equivalentTo"} xref: ICD10CM:B06 {source="MONDO:equivalentTo", source="DOID:8781"} xref: ICD9:056 {source="DOID:8781"} xref: MedDRA:10039252 xref: MedDRA:10039279 xref: MedDRA:10039280 xref: MESH:D012409 {source="MONDO:equivalentTo", source="DOID:8781"} xref: MONDO:0004656 xref: NCIT:C85051 {source="MONDO:equivalentTo", source="DOID:8781"} xref: SCTID:36653000 {source="MONDO:equivalentTo", source="DOID:8781"} xref: UMLS:C0035920 {source="NCIT:C85051", source="MONDO:equivalentTo", source="DOID:8781"} is_a: MONDO:0100329 ! primary viral infectious disease property_value: exactMatch DOID:8781 property_value: exactMatch http://identifiers.org/mesh/D012409 property_value: exactMatch http://identifiers.org/snomedct/36653000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035920 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B06 property_value: exactMatch NCIT:C85051 property_value: gwas:trait "true" xsd:boolean property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4742/rubella xsd:anyURI {source="GARD:0004742"} [Term] id: EFO:1002027 name: osteomalacia def: "Disorder caused by an interruption of the mineralization of organic bone matrix leading to bone softening, bone pain, and weakness. It is the adult form of rickets resulting from disruption of VITAMIN D; PHOSPHORUS; or CALCIUM homeostasis." [] synonym: "adult osteomalacia" EXACT [] synonym: "adult rickets" EXACT [] synonym: "late rickets" EXACT [] synonym: "rachitis tarda" EXACT [] xref: HP:0002749 xref: ICD10:M83 xref: MedDRA:10031250 xref: MedDRA:10031251 xref: MeSH:D010018 xref: MP:0009445 is_a: EFO:0005583 ! rickets property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1002028 name: cicatricial alopecia def: "Scarring hair loss, also known as cicatricial alopecia, is the loss of hair which is accompanied with scarring. This is in contrast to non scarring hair loss." [] synonym: "alopecia cicatrisata" EXACT [] synonym: "scarring alopecia" EXACT [] synonym: "scarring hair loss" EXACT [] xref: ICD10:L66 xref: MedDRA:10083950 xref: Wikipedia:Scarring_hair_loss is_a: MONDO:0100118 ! hereditary skin disorder is_a: Orphanet:68346 ! Rare genetic skin disease property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EFO:1002029 name: chronic rhinosinusitis with nasal polyps def: "A type of chronic rhinosinusitis that is characterized by the presence of nasal polyps." [] comment: PMID:29253858 synonym: "CRSwNP" EXACT [] xref: MedDRA:10080060 is_a: EFO:1000024 ! chronic rhinosinusitis relationship: has_modifier HP:0011010 ! Chronic property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1002030 name: chronic rhinosinusitis without nasal polyps def: "A type of chronic rhinosinusitis that is characterized by the absence of nasal polyps." [] comment: PMID:29253858 synonym: "CRSsNP" EXACT [] xref: MedDRA:10084742 is_a: EFO:1000024 ! chronic rhinosinusitis relationship: has_modifier HP:0011010 ! Chronic [Term] id: EFO:1002031 name: Hodgkins lymphoma, mixed cellularity def: "A subtype of classical Hodgkin lymphoma with scattered Reed-Sternberg and Hodgkin cells in a diffuse or vaguely nodular mixed inflammatory background without nodular sclerosing fibrosis. (WHO, 2008)" [NCIT:C3517] subset: ordo_histopathological_subtype {source="Orphanet:98844"} synonym: "classic Hodgkin lymphoma, mixed cellularity type" EXACT [MONDO:0020328] synonym: "Hodgkin lymphoma, mixed cellularity" EXACT [DOID:8654] synonym: "Hodgkin's disease mixed cellularity" EXACT [NCIT:C3517] synonym: "Hodgkin's disease, mixed cellularity" RELATED [DOID:8654] synonym: "Hodgkin's disease, mixed cellularity of unspecified site" EXACT [DOID:8654] synonym: "Hodgkin's lymphoma mixed cellularity" EXACT [NCIT:C3517] synonym: "Hodgkin's lymphoma, mixed cellularity" EXACT [] {comment="Mondo preferred label 15.08.2021."} synonym: "Hodgkin's lymphoma, mixed cellularity" EXACT [] {comment="preferred label from MONDO"} synonym: "MCCHL" EXACT ABBREVIATION [NCIT:C3517] synonym: "MCHL" EXACT ABBREVIATION [DOID:8654, NCIT:C3517] synonym: "Mixed cellularity Classic Hodgkin lymphoma" EXACT [NCIT:C3517] synonym: "mixed cellularity classical Hodgkin lymphoma" EXACT [NCIT:C3517] synonym: "mixed cellularity Hodgkin lymphoma" EXACT [NCIT:C3517] synonym: "mixed cellularity Hodgkin's disease" EXACT [NCIT:C3517] synonym: "mixed cellularity Hodgkin's lymphoma" EXACT [NCIT:C3517] xref: COHD:4038843 {source="MONDO:equivalentTo"} xref: DOID:8654 {source="MONDO:equivalentTo"} xref: ICD10:C81.2 {source="DOID:8654", source="ORDO:98844/e", source="Orphanet:98844"} xref: ICD9:201.6 {source="DOID:8654"} xref: ICDO:9652/3 {source="NCIT:C3517"} xref: MONDO:0004633 xref: NCIT:C3517 {source="DOID:8654", source="MONDO:equivalentTo"} xref: ONCOTREE:MCCHL {source="MONDO:equivalentTo"} xref: Orphanet:98844 {source="MONDO:equivalentTo"} xref: SCTID:118609008 {source="DOID:8654", source="MONDO:equivalentTo"} is_a: MONDO:0009348 {source="NCIT:C3517", source="ONCOTREE:MCCHL", source="Orphanet:98844"} ! classic Hodgkin lymphoma property_value: closeMatch http://identifiers.org/snomedct/188574000 property_value: closeMatch http://identifiers.org/snomedct/188583005 property_value: closeMatch http://identifiers.org/snomedct/41529000 property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152266 property_value: exactMatch DOID:8654 property_value: exactMatch DOID:8654 property_value: exactMatch http://identifiers.org/snomedct/118609008 property_value: exactMatch http://identifiers.org/snomedct/118609008 property_value: exactMatch NCIT:C3517 property_value: exactMatch NCIT:C3517 property_value: exactMatch Orphanet:98844 property_value: exactMatch Orphanet:98844 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1002032 name: obsolete_primary hypertension def: "Hypertension that presents without an identifiable cause." [] synonym: "essential hypertension" EXACT [] synonym: "idiopathic hypertension" EXACT [] xref: ICD10:I10 xref: MedDRA:10036695 xref: MONDO:0001134 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.38.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replaced with Mondo term\nsee https://github.com/ebispot/efo/issues/1381" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/MONDO_0001134 [Term] id: EFO:1002034 name: secondary hypertension def: "High blood pressure caused by an underlying medical condition." [NCIT:P378] synonym: "secondary hypertension" EXACT [] {comment="preferred label from MONDO"} xref: DOID:11130 {source="MONDO:equivalentTo"} xref: ICD9:405 {source="DOID:11130"} xref: ICD9:405.9 {source="DOID:11130"} xref: ICD9:405.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10039834 xref: MedDRA:10039837 xref: MedDRA:10039838 xref: MedDRA:10039839 xref: MONDO:0001200 xref: SCTID:31992008 {source="MONDO:equivalentTo", source="DOID:11130"} xref: UMLS:C0155616 {source="MONDO:equivalentTo", source="DOID:11130"} is_a: EFO:0000537 {source="DOID:11130", source="EFO:1002034", source="NCIT:C3657"} ! hypertension property_value: exactMatch DOID:11130 property_value: exactMatch http://identifiers.org/snomedct/31992008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155616 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1002039 name: renal hypertension def: "Hypertension caused by narrowing or occlusion of the renal arteries." [] def: "Hypertension caused by the kidney's hormonal response to narrowing or occlusion of the renal arteries." [Wikipedia:Renovascular_hypertension] synonym: "renal hypertension" EXACT [] {comment="preferred label from MONDO"} synonym: "renovascular hypertension" NARROW [Wikipedia:Renovascular_hypertension] xref: DOID:1073 {source="MONDO:equivalentTo"} xref: ICD10:I12 xref: MedDRA:10038464 xref: MESH:D006977 {source="MONDO:equivalentTo", source="DOID:1073"} xref: MONDO:0001105 xref: SCTID:28119000 {source="MONDO:equivalentTo", source="DOID:1073"} xref: UMLS:C0020544 {source="MONDO:equivalentTo", source="DOID:1073"} is_a: EFO:0003086 {source="DOID:1073", source="EFO:1002039", source="MESH:D006977"} ! kidney disease is_a: EFO:1002034 {source="DOID:1073", source="EFO:1002039", source="MONDO:Redundant", source="PMID:25492839", source="Wikipedia:Renovascular_hypertension"} ! secondary hypertension property_value: exactMatch DOID:1073 property_value: exactMatch http://identifiers.org/mesh/D006977 property_value: exactMatch http://identifiers.org/snomedct/28119000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020544 [Term] id: EFO:1002040 name: Corneal astigmatism synonym: "A source of refactive astigmatism, which is a commonly occurring refractive error that leads to impaired visual acuity." EXACT [] is_a: EFO:0009464 ! corneal disease is_a: HP:0000483 ! Astigmatism property_value: definition:citation PMID:29422769 xsd:string property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: EFO:1002046 name: apocrine sweat gland disease def: "A disease that involves the apocrine sweat gland." [MONDO:patterns/location] synonym: "apocrine sweat gland disease" EXACT [MONDO:patterns/location] synonym: "apocrine sweat gland disease or disorder" EXACT [MONDO:patterns/location] synonym: "apocrine sweat gland disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "disease of apocrine sweat gland" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of apocrine sweat gland" EXACT [] synonym: "disorder of apocrine sweat gland" EXACT [MONDO:patterns/location_top] xref: ICD10:L75 xref: ICD10CM:L75 {source="MONDO:equivalentTo"} xref: MONDO:0024467 is_a: EFO:1000772 ! sweat gland disease property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L75 [Term] id: EFO:1002047 name: spotted fever def: "A type of tick-borne disease which presents on the skin caused by bacteria of the genus Rickettsia." [Wikipedia:Spotted_fever] subset: disease_grouping subset: gard_rare {source="GARD:0004998"} subset: ordo_group_of_disorders {source="Orphanet:102022"} synonym: "fever, spotted" RELATED [MESH:D000073605] synonym: "fevers, spotted" RELATED [MESH:D000073605] synonym: "spotted fever" EXACT [] {comment="preferred label from MONDO"} synonym: "spotted fever" EXACT [MESH:D000073605] synonym: "spotted fever group rickettsial disease" EXACT [DOID:11104] synonym: "spotted fever Group Rickettsioses" RELATED [MESH:D000073605] synonym: "spotted fever Group rickettsiosis" RELATED [MESH:D000073605] synonym: "spotted fever rickettsiae disease" EXACT [Orphanet:102022] synonym: "spotted fever rickettsiosis" EXACT [MONDO:0015155] synonym: "spotted fevers" RELATED [MESH:D000073605] xref: DOID:11104 {source="MONDO:equivalentTo"} xref: ICD10:A77 xref: ICD10CM:A77 {source="DOID:11104", source="MONDO:equivalentTo"} xref: ICD9:082.0 {source="DOID:11104", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:083.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:11567 {source="UMLS:C0038041"} xref: MONDO:0001195 xref: Orphanet:102022 {source="MONDO:equivalentTo"} xref: SCTID:186771002 {source="DOID:11104", source="MONDO:equivalentTo", source="UMLS:C0038041"} xref: UMLS:C0038041 {source="DOID:11104", source="MONDO:equivalentTo"} xref: Wikipedia:Spotted_fever is_a: EFO:1001128 ! Rickettsiaceae infectious disease is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease property_value: closeMatch http://identifiers.org/medgen/11567 property_value: exactMatch DOID:11104 property_value: exactMatch http://identifiers.org/snomedct/186771002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038041 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A77 property_value: exactMatch Orphanet:102022 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4998/spotted-fever xsd:anyURI {source="GARD:0004998"} [Term] id: EFO:1002048 name: kidney failure def: "An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood." [NCIT:P378] def: "An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood. [ NCIt:P378 ]" [] synonym: "failure, renal" EXACT [NCIT:C4376] synonym: "kidney failure" EXACT [] {comment="preferred label from MONDO"} synonym: "renal failure" EXACT [DOID:1074] synonym: "renal failure syndrome" EXACT [NCIT:C4376] synonym: "renal insufficiency" EXACT [NCIT:C4376] xref: DOID:1074 {source="MONDO:equivalentTo"} xref: ICD10:N19 xref: ICD9:404.12 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:404.13 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:586 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1074"} xref: MedDRA:10023418 xref: MedDRA:10038435 xref: MedDRA:10038450 xref: MESH:D051437 {source="MONDO:equivalentTo", source="DOID:1074"} xref: MONDO:0001106 xref: NCIT:C4376 {source="MONDO:equivalentTo", source="DOID:1074"} xref: SCTID:42399005 {source="MONDO:equivalentTo", source="DOID:1074"} xref: UMLS:C0035078 {source="MONDO:equivalentTo", source="NCIT:C4376", source="DOID:1074"} xref: UMLS:C1565489 {source="MONDO:equivalentTo"} is_a: EFO:0003086 {source="DOID:1074", source="MESH:D051437", source="NCIT:C4376/inferred"} ! kidney disease property_value: exactMatch DOID:1074 property_value: exactMatch http://identifiers.org/mesh/D051437 property_value: exactMatch http://identifiers.org/snomedct/42399005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035078 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1565489 property_value: exactMatch NCIT:C4376 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1002049 name: glomerular disease def: "A disease involving the renal glomerulus." [MONDO:patterns/location_top] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:93548"} synonym: "disease of renal glomerulus" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of renal glomerulus" EXACT [] synonym: "disorder of renal glomerulus" EXACT [MONDO:patterns/location_top] synonym: "glomerular disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "glomerulopathies" RELATED [GTR:AN0966176] synonym: "glomerulopathy" EXACT [MONDO:patterns/location] synonym: "renal glomerulus disease" EXACT [MONDO:patterns/location] synonym: "renal glomerulus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: GTR:AN0966176 xref: ICD10:N08 xref: ICD10CM:N00-N08 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: MONDO:0019722 xref: NCIT:C120887 {source="MONDO:equivalentTo"} xref: Orphanet:93548 {source="MONDO:equivalentTo"} xref: SCTID:197679002 {source="MONDO:equivalentTo"} xref: UMLS:CN580795 {source="MONDO:equivalentTo"} is_a: EFO:0003086 {source="MONDO:Redundant", source="NCIT:C120887/inferred", source="Orphanet:93548"} ! kidney disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0019750"} ! rare property_value: exactMatch http://identifiers.org/snomedct/197679002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN580795 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/N00-N08 property_value: exactMatch NCIT:C120887 property_value: exactMatch Orphanet:93548 [Term] id: EFO:1002050 name: nephritis def: "Inflammation of renal tissue." [NCIT:P378] def: "Inflammation of renal tissue. [ NCIt:P378 ]" [] synonym: "inflammation of kidney" EXACT [] synonym: "kidney inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "nephritis" EXACT [] {comment="preferred label from MONDO"} xref: DOID:10952 {source="MONDO:equivalentTo"} xref: ICD10:N05 xref: ICD10:N10 xref: ICD10:N12 xref: ICD9:583.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:583.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:583.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10029117 xref: MESH:D009393 {source="DOID:10952", source="MONDO:equivalentTo"} xref: MONDO:0001166 xref: NCIT:C26833 {source="DOID:10952", source="MONDO:equivalentTo"} xref: SCTID:52845002 {source="DOID:10952", source="MONDO:equivalentTo"} xref: UMLS:C0027697 {source="DOID:10952", source="MONDO:equivalentTo", source="NCIT:C26833"} is_a: EFO:0003086 {source="DOID:10952", source="MESH:D009393", source="MONDO:Redundant", source="NCIT:C26833/inferred"} ! kidney disease is_a: EFO:0009903 {source="MONDO:Redundant"} ! inflammatory disease property_value: exactMatch DOID:10952 property_value: exactMatch http://identifiers.org/mesh/D009393 property_value: exactMatch http://identifiers.org/snomedct/52845002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027697 property_value: exactMatch NCIT:C26833 property_value: gwas:trait "true" xsd:boolean [Term] id: EFO:1002051 name: facial nerve disease def: "A disease involving the facial nerve." [https://orcid.org/0000-0002-6601-2165] synonym: "disease of facial nerve" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of facial nerve" EXACT [] synonym: "disorder of facial nerve" EXACT [MONDO:patterns/location_top] synonym: "disorder of seventh cranial nerve" RELATED [] synonym: "disorders of the seventh nerve" RELATED [] synonym: "disorders of the VIIth cranial nerve" RELATED [] synonym: "facial nerve disease" EXACT [MONDO:patterns/location] synonym: "facial nerve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "facial nerve disorder" EXACT [] {comment="preferred label from MONDO"} synonym: "facial neuropathy" RELATED [] xref: DOID:1756 {source="MONDO:equivalentTo"} xref: ICD10:G51 xref: ICD10CM:G51 {source="MONDO:equivalentTo", source="DOID:1756"} xref: ICD9:351 {source="DOID:1756"} xref: ICD9:351.9 {source="DOID:1756"} xref: MESH:D005155 {source="MONDO:equivalentTo", source="DOID:1756"} xref: MONDO:0002098 xref: NCIT:C27594 {source="MONDO:equivalentTo", source="DOID:1756"} xref: SCTID:422426003 {source="MONDO:equivalentTo", source="DOID:1756"} xref: UMLS:C0015464 {source="MONDO:equivalentTo", source="DOID:1756"} is_a: EFO:0009387 {source="DOID:1756/inferred", source="MONDO:Redundant"} ! peripheral nervous system disease is_a: MONDO:0003569 {source="DOID:1756", source="MESH:D005155", source="MONDO:Redundant", source="NCIT:C27594"} ! cranial nerve neuropathy property_value: exactMatch DOID:1756 property_value: exactMatch http://identifiers.org/mesh/D005155 property_value: exactMatch http://identifiers.org/snomedct/422426003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015464 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G51 property_value: exactMatch NCIT:C27594 property_value: gwas:trait "true" xsd:boolean [Term] id: EO:0001001 name: plant treatment def: "A plant environment involving the application of an abiotic or biotic treatment." [] is_a: EFO:0000727 ! treatment [Term] id: EO:0001004 name: inorganic chemical treatment def: "A chemical treatment (EO:0007189) involving the application of inorganic chemical(s)." [] is_a: EO:0007189 ! chemical treatment [Term] id: EO:0001020 name: carbon dioxide treatment def: "An inorganic gas treatment (EO:0001055) that involves the application of carbon dioxide (CHEBI:16526)." [] is_a: EO:0001055 ! inorganic gas treatment [Term] id: EO:0001038 name: osmotic stress treatment is_a: EO:0007191 ! abiotic plant treatment property_value: definition:citation "A chemical stress treatment (EO:0001036) involving use of osmotic stress-inducing chemicals." xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EO:0001046 name: limited phosphate treatment namespace: plant_enviroment_ontology def: "A phosphate treatment (EO:0001006) involving exposure to limiting amounts or absence of phosphate (CHEBI:18367)." [] is_a: EO:0001004 ! inorganic chemical treatment property_value: IAO:0000117 "imported by Sirarat Sarntivijai" xsd:string [Term] id: EO:0001047 name: limited iron regimen def: "An iron nutrient regimen (EO:0007242) involving exposure to limiting amounts or the absence of iron (CHEBI:18248)." [] is_a: EO:0007241 ! plant nutrient treatment [Term] id: EO:0001054 name: limited nitrate regimen def: "A nitrate regimen (EO:0007406) involving exposure to limiting amounts or the absence of nitrate (CHEBI:17632)." [] is_a: EO:0007241 ! plant nutrient treatment [Term] id: EO:0001055 name: inorganic gas treatment def: "An inorganic chemical treatment (EO:0001004) involving the application of a gas or mixture of gases." [] is_a: EO:0007189 ! chemical treatment [Term] id: EO:0001056 name: elevated carbon dioxide treatment def: "A carbon dioxide treatment (EO:0001020) involving an increased concentration of carbon dioxide (CHEBI:16526)." [] is_a: EO:0001020 ! carbon dioxide treatment [Term] id: EO:0007048 name: sodium chloride regimen def: "Treatment involving the use of sodium chloride salt as supplement to liquid and soil growth media to study various types of responses on its application." [] is_a: EO:0001001 ! plant treatment [Term] id: EO:0007049 name: soil environment def: "The treatment involving growing plants and exposing them to soil growth media with varying contents." [] is_a: EO:0007191 ! abiotic plant treatment [Term] id: EO:0007067 name: hydroponic plant culture media def: "The treatment suggesting the use of liquid growth media for growing the plants." [] is_a: EO:0007191 ! abiotic plant treatment property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EO:0007068 name: ethylene treatment def: "A growth hormone treatment (EO:0007165) involving the use of ethylene (or its homolog) growth hormone to study various types of responses on its extrinsic and/or intrinsic application." [] is_a: EO:0007165 ! growth hormone treatment [Term] id: EO:0007078 name: light quantity regimen def: "In biological experiments often it refer to the length of the exposure time. The treatment also includes the quantity of light falling on a per unit area. This may be expressed either in terms of hours for which teh radiation was available or in the units of luminous flux or the lumens." [] is_a: EO:0007153 ! radiation quantity regimen property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EO:0007105 name: abscisic acid treatment def: "A growth hormone treatment (EO:0007165) involving the use of abscisic acid (or its homolog) growth hormone to study various types of responses on its extrinsic and/or intrinsic application." [] synonym: "ABA regimen" EXACT [] is_a: EO:0007165 ! growth hormone treatment [Term] id: EO:0007129 name: UV-C light regimen def: "The treatment using UV-C light either exclusively or as part of a supplemental electromagnetic radiation in the wavelength range of 280-10nm" [] is_a: EO:0007222 ! UV light regimen [Term] id: EO:0007153 name: radiation quantity regimen def: "In biological experiments it refer to the treatment involving radiation in terms of length of the exposure time. It also includes the quantity of radiation falling on a per unit area. This is expressed in the units of luminous flux or the lumens." [] is_a: EO:0001001 ! plant treatment [Term] id: EO:0007154 name: radiation quality treatment def: "The treatment involving an exposure to a given type of radiation. Often it is in the form of electromagnetic and ionizing radiation such as light (infrared, visible or ultraviolet), x-rays, gamma rays, etc.\n\n" [] is_a: EO:0001001 ! plant treatment property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EO:0007162 name: continuous light regimen def: "The treatment involving continuous exposure of light to the plant." [] is_a: EO:0007078 ! light quantity regimen [Term] id: EO:0007165 name: growth hormone treatment def: "A chemical treatment (EO:0007189) involving the use of growth hormones to study various types of responses on their extrinsic and/or intrinsic application." [] is_a: EO:0007189 ! chemical treatment [Term] id: EO:0007171 name: pH regimen def: "The treatment involving exposure of plants to varying levels of pH of the growth media." [] is_a: EO:0007191 ! abiotic plant treatment property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EO:0007173 name: warm/hot temperature regimen def: "The treatment involving an exposure to above optimal temperature, which may depend on the study type or the regional environment." [] is_a: EO:0007191 ! abiotic plant treatment [Term] id: EO:0007174 name: cold temperature regimen namespace: plant_environment_ontology def: "The treatment involving an exposure to cold or sub-optimal temperature, which may depend on the study type or the regional environment." [] is_a: EO:0007191 ! abiotic plant treatment property_value: IAO:0000117 "imported by Sirarat Sarntivijai" xsd:string [Term] id: EO:0007185 name: salt treatment def: "A chemical treatment (EO:0007189) involving use of salts as supplement to liquid and soil growth media to study various types of responses on their application." [] comment: This treatment may be used to simulate the growth conditions of sea coast regions and saline/sodic soils. is_a: EO:0007189 ! chemical treatment [Term] id: EO:0007189 name: chemical treatment def: "An abiotic plant treatment (EO:0007191) involving the application of chemical(s)." [] is_a: EO:0007191 ! abiotic plant treatment [Term] id: EO:0007191 name: abiotic plant treatment def: "A plant treatment (EO:0001001) involving the application of chemical or non-biological factors." [] is_a: EO:0001001 ! plant treatment property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EO:0007196 name: light regimen def: "The treatment involving day light as the light of the sun or the artificial light in a growth chamber." [] comment: A type of light used in a commercial light box to simulate natural daylight. For experiments carried out in growth chambers, the daylight is a light source providing a color temperature of 6500+/-200 K at an illumination of 90 to 120 ft/candles. This source is typically provided by fluorescent, tungsten or halogen lamps. is_a: EO:0007154 ! radiation quality treatment [Term] id: EO:0007199 name: long day length regimen is_a: EO:0007078 ! light quantity regimen property_value: definition:citation "The treatment involving exposure of plant to long day light duration followed by a short night cycle." xsd:string property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EO:0007200 name: short day length regimen def: "The treatment involving exposure of plant to short day light duration followed by a long night cycle." [] is_a: EO:0007078 ! light quantity regimen property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EO:0007203 name: far red light regimen def: "The treatment using far red light either exclusively or as part of a supplemental light treatment involving red color light in the wavelength range of 800-700 nM." [] is_a: EO:0007154 ! radiation quality treatment property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EO:0007207 name: red light regimen def: "The treatment using red light either exclusively or as part of a supplemental light treatment involving red color light in the wavelength range of 780-622 nM." [] is_a: EO:0007154 ! radiation quality treatment property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EO:0007222 name: UV light regimen def: "The treatment using UV-B light either exclusively or as part of a supplemental light involving electromagnetic radiation in the wavelength range of 315-10nm." [] is_a: EO:0007196 ! light regimen [Term] id: EO:0007231 name: study type (plant) namespace: plant_environment_ontology def: "A plant experimental condition (EO:0007359) or set of conditions describing what kind of plant growth facility was used for the experiment.\n" [] comment: This term is specific to plant experiment imported from plant environment ontology. The source preferred label is 'study type'. synonym: "plant study type" EXACT [] synonym: "study type" EXACT [] is_a: IAO:0000030 ! information entity property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EO:0007241 name: plant nutrient treatment def: "A plant chemical treatment (EO:0007189) involving a plant nutrient or a combination of plant nutrients." [] is_a: EO:0007189 ! chemical treatment [Term] id: EO:0007248 name: green house study namespace: plant_environment_ontology def: "The treatment where the plants were grown under green house conditions. This may involve supplemental treatments in addition to any standard conditions." [] is_a: EO:0007231 ! study type (plant) property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EO:0007256 name: field study namespace: plant_environment_ontology def: "The treatment where the plants were grown under field conditions. This may involve supplemental treatments in addition to any naturally occurring conditions." [] synonym: "open field study" EXACT [] is_a: EO:0007231 ! study type (plant) property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EO:0007269 name: growth chamber study def: "The treatment involving study type in which plants were grown in growth chambers." [] is_a: EO:0007231 ! study type (plant) [Term] id: EO:0007270 name: continuous dark (no light) regimen def: "The treatment involving continuous exposure to darkness (no light) to the plant." [] synonym: "continuous night regimen" EXACT [] synonym: "photoperiod regimen" EXACT [] is_a: EO:0007078 ! light quantity regimen property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: EO:0007317 name: Nilaparvata lugens def: "The brown planthopper (Nilaparvata lugens) is a typical vascular feeder and considered one of the most serious pests of all rice herbivores." [] synonym: "brown planthopper" EXACT [] xref: PMID:19405033 is_a: NCBITaxon:50557 ! Insecta property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EO:0007319 name: warm/hot air temperature regimen def: "The treatment involving an exposure to above optimal air temperature, which may depend on the study type or the regional environment." [] is_a: EO:0007173 ! warm/hot temperature regimen [Term] id: EO:0007337 name: Nematoda def: "The phylum Nematoda (roundworms) is one of the most common phyla of animals, estimated to contain over a million species. Over 20,000 nematode species have been described, most of them are free-living but many are successful parasites of humans, animals, and plants, causing diseases of major socio-economic importance globally." [] synonym: "nematode" EXACT [] synonym: "nematodes" EXACT [] synonym: "roundworm" EXACT [] synonym: "roundworms" EXACT [] xref: PMID:19296854 is_a: NCBITaxon:33208 ! Metazoa property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: EO:0007357 name: biotic plant treatment def: "A plant treatment (EO:0001001) involving the application of a biotic or biological factor such as a microbe, insect, animal, or plant or a combination thereof. [database_cross_reference: PO:cooperl][database_cross_reference: GR:pj]" [] is_a: EO:0001001 ! plant treatment property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: EO:0007404 name: drought environment namespace: plant_environment_ontology def: "an environment in plant experiments to understand how plants respond to episodic drought and watering pulse by depriving the plants of water supply" [] is_a: EO:0001001 ! plant treatment property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: FBbt:00000109 name: mesectoderm anlage namespace: fly_anatomy.ontology def: "Contiguous region of early embryonic cells that forms a single-cell border between the anlagen of the mesoderm and ectoderm on either side (Campos-Ortega and Hartenstein, 1997). As the mesoderm invaginates and the ventral furrow closes, the two rows of cells come together to form the mesectoderm at the ventral midline of the embryo (Campos-Ortega and Hartenstein, 1997)." [FlyBase:FBrf0089570, FlyBase:FBrf0155831] subset: cur synonym: "AMesEc" RELATED [] synonym: "mesectoderm ISN" RELATED [FlyBase:FBrf0180108] xref: FBbt:00000109 is_a: EFO:0003333 ! Drosophila developmental tissue [Term] id: FBbt:00000127 name: head mesoderm namespace: fly_anatomy.ontology def: "Mesoderm that originates anterior to the cephalic furrow. It forms two vertical plates that flank the anterior midgut rudiment, and from stage 10 onwards, the stomodeum." [FlyBase:FBrf0064803, FlyBase:FBrf0089570, FlyBase:FBrf0190261] subset: cur subset: EmbDevSlim synonym: "head mesoderm P3 primordium" RELATED [] synonym: "head mesoderm primordium P4" RELATED [] synonym: "HeadMes" RELATED [] synonym: "HeadMesP3" RELATED [] synonym: "hms" EXACT [FlyBase:FBrf0064803] synonym: "P4 HeadMes" RELATED [FBC:DOS] synonym: "procephalic mesoderm" EXACT [FlyBase:FBrf0089570] xref: FBbt:00000127 is_a: EFO:0003333 ! Drosophila developmental tissue [Term] id: FBbt:00000197 name: posterior spiracle primordium namespace: fly_anatomy.ontology alt_id: FBbt:00005603 def: "Primordium of the posterior spiracle of the larva. Originates in the posterior half of the lateral ectoderm of abdominal segment 8 during stage 12. A group of cells that are more basophilic that those surrounding them form a deep groove and fuse with the posterior arm of the tracheal primordium of A8 (tracheal metamere 10)." [FlyBase:FBrf0089570] subset: cur subset: EmbDevSlim synonym: "embryonic posterior spiracle" EXACT [] synonym: "P1 PosSpi" RELATED [FBC:DOS] synonym: "posterior spiracle specific anlage" RELATED [] xref: FBbt:00000197 is_a: EFO:0003333 ! Drosophila developmental tissue [Term] id: FBbt:00000210 name: anterior endoderm anlage namespace: fly_anatomy.ontology def: "Region of cells of the early embryo that will invaginate from the anterior ventral embryo during gastrulation to form the anterior part of the endoderm (Campos-Ortega and Hartenstein, 1997). It is a precursor to the anterior midgut (Campos-Ortega and Hartenstein, 1997)." [FlyBase:FBrf0089570] subset: cur subset: EmbDevSlim synonym: "anterior midgut anlage" EXACT [FlyBase:FBrf0089570] synonym: "Asn/A antEndo" RELATED [FBC:DOS] xref: FBbt:00000210 is_a: EFO:0000795 ! animal developmental tissue [Term] id: FBbt:00000441 name: hindgut proper primordium namespace: fly_anatomy.ontology subset: cur subset: EmbDevSlim synonym: "P2 pHiGP" RELATED [FBC:DOS] synonym: "pHiGP2" RELATED [] xref: FBbt:00000441 is_a: EFO:0003335 ! Drosophila embryonic structure [Term] id: FBbt:00000442 name: Malpighian tubule primordium namespace: fly_anatomy.ontology subset: cur subset: EmbDevSlim synonym: "MTP2" RELATED [] synonym: "P2 MalT" RELATED [FBC:DOS] xref: FBbt:00000442 is_a: EFO:0003335 ! Drosophila embryonic structure [Term] id: FBbt:00000444 name: anterior midgut primordium namespace: fly_anatomy.ontology alt_id: FBbt:00005245 alt_id: FBbt:00005250 def: "The primordium that will develop into the anterior midgut of both larva and adult. This forms during stage 8 when anterior endoderm cells, which have invaginated at the anterior end of the ventral furrow, divide and undergo an epithelial-to-mesenchymal transition. During stage 9, its cells divide a second time. During stage 10, the primordium attaches to the internal end of the stomodeum and spreads posteriorly with the stomodeal invagination, splitting into two lobes extending on either side of the yolk sac. A separate group of cells fuse with this primordium during stage 11. These cells delaminate from the stomodeum, becoming mesenchymal and mingling with the existing cells of the primordium. Fate mapping suggests that these cells will form the anterior-most part of the midgut, including the gastric caeca (Technau and Campos-Ortega, 1985). Adult midgut progenitors separate from the primordium during late stage 11 and stage 12. The remaining cells reorganize to become epithelial plates which then begin to fuse with the posterior midgut primordium during stage 12, forming the fused midgut primordium." [FlyBase:FBrf0043522, FlyBase:FBrf0089570] comment: This primordium may be temporally subdivided into the inclusive anterior midgut primordium, including adult midgut progenitors and the anterior midgut primordium proper, which contains only progenitors of the embryonic/larval midgut. However, the primordium proper exists only briefly during stage 12 and so we have chosen not to represent it in this ontology. Please use 'anterior midgut primordium' for both cases. Note, there is some controversy surrounding the account of anterior midgut development given in this definition. See Foe, 1989 and notes on this paper in Campos-Ortega and Hartenstein, 1997, pg 151-152). subset: cur subset: EmbDevSlim synonym: "anterior midgut inclusive primordium" NARROW [] synonym: "anterior midgut proper primordium" NARROW [] synonym: "antMGP2" RELATED [] synonym: "embryonic anterior midgut" RELATED [] synonym: "P2 antEndoP" RELATED [FBC:DOS] xref: FBbt:00000444 is_a: EFO:0000795 ! animal developmental tissue [Term] id: FBbt:00000447 name: posterior endoderm anlage namespace: fly_anatomy.ontology def: "Region of cells of the early embryo that will invaginate from the posterior dorsal embryo during gastrulation to form the posterior part of the endoderm (Campos-Ortega and Hartenstein, 1997). It is a precursor to the posterior midgut (Campos-Ortega and Hartenstein, 1997)." [FlyBase:FBrf0089570] subset: cur subset: EmbDevSlim synonym: "Asn/A postEndo" RELATED [FBC:DOS] synonym: "posterior midgut anlage" EXACT [FlyBase:FBrf0089570] xref: FBbt:00000447 is_a: EFO:0003333 ! Drosophila developmental tissue [Term] id: FBbt:00000461 name: embryonic inner optic lobe primordium namespace: fly_anatomy.ontology def: "Primordium of the late extended germ band and closure embryo that gives rise to the larval inner optic anlage. It develops from the anterior lip of the visual primordium." [FBC:DOS, FBC:VH, FlyBase:FBrf0089570, FlyBase:FBrf0151275] subset: cur subset: EmbDevSlim synonym: "P1 IOA" EXACT [FBC:DOS] xref: FBbt:00000461 is_a: EFO:0003335 ! Drosophila embryonic structure [Term] id: FBbt:00001069 name: embryonic stomatogastric nervous system namespace: fly_anatomy.ontology def: "The stomatogastric system of the embryo." [FBC:MMC] subset: cur xref: FBbt:00001069 xref: VFB:FBbt_00001069 is_a: EFO:0003334 ! Drosophila component [Term] id: FBbt:00001315 name: midline glial cell namespace: fly_anatomy.ontology alt_id: FBbt:00005567 def: "Glial cell that is derived from the mesectoderm (Ito et al., 1995). It is located on or close to the midline of the ventral nerve cord (Ito et al., 1995). At embryonic stage 11, these cells form two populations, an anterior cluster of around 6 cells per neuromere and a posterior cluster of around 4 cells per neuromere (Wheeler et al., 2006). Three of the anterior cells persist into the larval stage, with the rest of the midline glia being lost by apoptosis (Wheeler et al., 2009). In the larva, these cells ensheath the anterior and posterior axon commissures (Ito et al., 1995)." [FlyBase:FBrf0076141, FlyBase:FBrf0082171, FlyBase:FBrf0098773, FlyBase:FBrf0180108, FlyBase:FBrf0195284, FlyBase:FBrf0207445, FlyBase:FBrf0214261] comment: Ito et al. (1995) states that there are generally three or four midline glial cells per neuromere, but occasionally there are more than four. The thoracic neuromeres are more likely than the abdominal neuromeres to have more. Midline glia are repo (FBgn0011701) negative and are eliminated by apoptosis during the pupal stage. subset: cur synonym: "AMG" EXACT [FlyBase:FBrf0216654] synonym: "anterior midline glia" EXACT [FlyBase:FBrf0216654] synonym: "median glial cell" RELATED [] synonym: "MG" RELATED [] synonym: "MGA" EXACT [FlyBase:FBrf0053395] synonym: "MGM" EXACT [FlyBase:FBrf0053395] synonym: "midline glia" EXACT [] synonym: "ventral midline glia" EXACT [] xref: FBbt:00005567 xref: VFB:FBbt_00001315 is_a: EFO:0003334 ! Drosophila component [Term] id: FBbt:00001433 name: embryonic ganglion mother cell namespace: fly_anatomy.ontology def: "Any ganglion mother cell (FBbt:00005149) that is part of some embryo (FBbt:00000052)." [FBC:Autogenerated] subset: cur xref: FBbt:00001433 is_a: UBERON:0002050 ! embryonic structure [Term] id: FBbt:00001685 name: embryonic/larval plasmatocyte namespace: fly_anatomy.ontology def: "Hemocyte of the embryo and larva. Relatively large, irregularly shaped hemocyte (Brehelin, 1982). At the end of the third instar larval stage, plasmatocytes contains numerous inclusions, digitations and pinocytotic vesicles, well developed rough endoplasmic reticulum, Golgi apparatus and small lysosome-like bodies. By the end of the third instar period they also contain numerous phagosomes. Plasmatocytes represent 90-95% of all mature larval hemocytes. They function in the removal of dead cells and microbial pathogens." [FlyBase:FBrf0037631, FlyBase:FBrf0066479, FlyBase:FBrf0134542] comment: Brehelin and Zachary (1986) state that they never observe granular inclusions in plasmatocytes. Sometimes a few primary lysosomes as well as rare multivesicular bodies are visible, but these lysosomes are never 'condensed' into electron-dense granules. Together, this suggests that the synonym of 'granulocytes' is erroneous. The term podocyte refers to a plasmatocyte that extends long cytoplasmic extensions. They are no longer recognized as a distinct cell type (Michelle Crozatier, personal communication). subset: cur synonym: "agranular plasmatocyte" RELATED [FlyBase:FBrf0037631, FlyBase:FBrf0066479] synonym: "granulocyte" RELATED [FlyBase:FBrf0037631, FlyBase:FBrf0066479] synonym: "lamellocyte" RELATED [FlyBase:FBrf0037631, FlyBase:FBrf0066479] synonym: "macrophage" EXACT [FlyBase:FBrf0234752] synonym: "Pl" EXACT [FlyBase:FBrf0066479] synonym: "podocyte" EXACT [FBC:MMC] synonym: "typical plasmatocyte" RELATED [FlyBase:FBrf0037631, FlyBase:FBrf0066479] xref: CL:0000394 is_a: EFO:0003335 ! Drosophila embryonic structure [Term] id: FBbt:00001724 name: prothoracic gland namespace: fly_anatomy.ontology def: "Component of the larval ring gland that is continuous with the corpus cardiacum at its ventroposterior end, encircles the aorta, and surrounds the medially-located corpus allatum at its dorsoanterior end (Dai and Gilbert, 1991; de Velasco et al., 2004; Nassel and Zandawala, 2020). It is composed of very few cells in the late embryo, but these increase in size and number during larval development (de Velasco et al., 2004). It produces ecdysone and is most active in the early wandering third instar (Dai and Gilbert, 1991; Nassel and Zandawala, 2020). During pupal development, its cells separate, shrink and degenerate and none are found attached to the adult corpus allatum or corpus cardiacum after eclosion (Dai and Gilbert, 1991)." [FlyBase:FBrf0053727, FlyBase:FBrf0064803, FlyBase:FBrf0089570, FlyBase:FBrf0179777, FlyBase:FBrf0247015] subset: cur synonym: "PTG" EXACT [FlyBase:FBrf0247015] synonym: "thoracic gland" EXACT [FlyBase:FBrf0064803, FlyBase:FBrf0089570] xref: FBbt:00001724 is_a: EFO:0003334 ! Drosophila component is_a: FBbt:00007435 ! endocrine system component [Term] id: FBbt:00001761 name: imaginal disc namespace: fly_anatomy.ontology def: "A sac shaped epithelial structure in the larva that gives rise to part of the adult integumentary system. One side of the sac consists of peripodial epithelium, the other of columnar epithelium. A single anterior-posterior compartment boundary bisects both peripodial membrane and columnar epithelium. Cells do not cross this boundary during growth and development of the disc." [FBC:GG] subset: cur subset: FB_gloss synonym: "imaginal disk" RELATED [] xref: UBERON:0000939 is_a: EFO:0003335 ! Drosophila embryonic structure [Term] id: FBbt:00001766 name: eye-antennal disc namespace: fly_anatomy.ontology def: "Imaginal disc that, in the adults, gives rise to the eye, antenna, head capsule (including all bristles and external membranes) and the maxillary palps (Cohen, 1993)." [FlyBase:FBrf0064789] comment: Figure 12 from Cohen (1993, Bate, Martinez Arias, 1993: 747--841) provides a fate map of the eye-antennal disc. subset: cur subset: EmbDevSlim xref: UBERON:6001766 is_a: FBbt:00001761 ! imaginal disc [Term] id: FBbt:00001768 name: eye disc namespace: fly_anatomy.ontology def: "Anterior, bulbous portion of the eye-antennal disc that gives rise to the eye as well as contributing to the head capsule (Cohen, 1993)." [FlyBase:FBrf0064789] comment: Figure 12 from Cohen (1993, Bate, Martinez Arias, 1993: 747--841) provides a fate map of the eye-antennal disc. subset: cur is_a: FBbt:00001761 ! imaginal disc is_a: UBERON:0002050 ! embryonic structure relationship: part_of FBbt:00001766 ! eye-antennal disc [Term] id: FBbt:00001781 name: prothoracic leg disc namespace: fly_anatomy.ontology def: "Imaginal disc of the ventral prothoracic segment. Precursor of structures of the adult ventral prothorax including the prothoracic (1st) leg." [FlyBase:FBrf0064789] subset: cur subset: EmbDevSlim synonym: "1st leg disc" EXACT [] synonym: "T1 leg disc" EXACT [] synonym: "ventral prothoracic disc" EXACT [] xref: UBERON:6001781 is_a: FBbt:00001761 ! imaginal disc is_a: UBERON:0007688 ! anlage [Term] id: FBbt:00001956 name: optic nerve namespace: fly_anatomy.ontology subset: cur xref: MeSH:D009900 xref: NCIt:C12761 xref: UBERON:0004904 xref: VFB:FBbt_00001956 is_a: UBERON:0000061 ! anatomical structure [Term] id: FBbt:00004011 name: insulin secreting cell of pars intercerebralis namespace: fly_anatomy.ontology def: "Insulin-producing neuron with a cell body in the pars intercerebralis. These cells coexpress the genes Insulin-like peptide (Ilp) 2, Ilp3 and Ilp5." [FlyBase:FBrf0134726, FlyBase:FBrf0136823, FlyBase:FBrf0149175, FlyBase:FBrf0151837, FlyBase:FBrf0184236, FlyBase:FBrf0193772, FlyBase:FBrf0212696, FlyBase:FBrf0224974] comment: Insulin-producing cells are found amongst the median neurosecretory cells, but not all mNSCs are IPCs (FlyBase:FBrf0212696), despite misleading phrasing in some articles (e.g. FlyBase:FBrf0184236). subset: cur synonym: "dorsomedial neurosecretory cell" BROAD [] synonym: "insulin producing cell of brain" EXACT [] synonym: "IPC" BROAD [] xref: FBbt:00004011 xref: VFB:FBbt_00004011 is_a: EFO:0000795 ! animal developmental tissue [Term] id: FBbt:00004202 name: hindgut anlage namespace: fly_anatomy.ontology subset: cur xref: FBbt:00004202 is_a: EFO:0003333 ! Drosophila developmental tissue relationship: part_of FBbt:00000447 ! posterior endoderm anlage [Term] id: FBbt:00004204 name: ventral ectoderm anlage namespace: fly_anatomy.ontology subset: cur subset: EmbDevSlim synonym: "Asn/A VenEc" RELATED [FBC:DOS] xref: FBbt:00004204 is_a: EFO:0003333 ! Drosophila developmental tissue [Term] id: FBbt:00004784 name: capitellum namespace: fly_anatomy.ontology def: "Bulbous, distal-most segment of the haltere." [FlyBase:FBrf0007734] subset: cur xref: FBbt:00004784 is_a: EFO:0003334 ! Drosophila component [Term] id: FBbt:00004891 name: pole plasm namespace: fly_anatomy.ontology def: "Specialized region of the female egg cytoplasm characterized by the presence of dense organelles (polar granules)." [FlyBase:FBrf0064781] subset: cur subset: EmbDevSlim xref: FBbt:00004891 is_a: EFO:0003334 ! Drosophila component [Term] id: FBbt:00004914 name: female accessory gland namespace: fly_anatomy.ontology def: "Small, bilaterally paired gland that lies caudal to the spermathecae and is connected to the uterus by a duct (McQueen et al., 2022). The gland wall consists of a single layer of secretory cells, each with a large vacuole and a minute acidophilic granule towards the gland lumen (McQueen et al., 2022). It arises from the segment 9 (male genital) primordium in the female genital disc (McQueen et al., 2022)." [FlyBase:FBrf0007735, FlyBase:FBrf0141451, FlyBase:FBrf0253444] subset: cur synonym: "appendicular gland" EXACT [FlyBase:FBrf0253444] synonym: "colleterial gland" EXACT [FlyBase:FBrf0007735, FlyBase:FBrf0253444] synonym: "female AcGl" EXACT [FlyBase:FBrf0007735] synonym: "parovarium" EXACT [FlyBase:FBrf0031004, FlyBase:FBrf0253444] xref: FBbt:00004914 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000474 ! female reproductive system [Term] id: FBbt:00005067 name: fat body primordium namespace: fly_anatomy.ontology def: "The fat body primordium after the gonadal sheath primordium splits from it during stage 14. By stage 15, the different primordia fuse to form a continuous layer (Hoshizaki et al., 1994). The precursor fat cells it contains continue differentiating until stage 17, when the primordium becomes the fat body proper (Campos-Ortega and Hartenstein, 1997)." [FlyBase:FBrf0073371, FlyBase:FBrf0089570] subset: cur synonym: "embryonic fat body" NARROW [FBC:DPG] synonym: "fat body specific anlage" RELATED [] xref: FBbt:00005067 is_a: EFO:0003335 ! Drosophila embryonic structure [Term] id: FBbt:00005072 name: circular visceral muscle fiber namespace: fly_anatomy.ontology def: "Circular fiber of the visceral muscles, which surround the intestinal tract." [FlyBase:FBrf0064793] subset: cur subset: EmbDevSlim synonym: "circular visceral muscle fibers" EXACT [] xref: FBbt:00005072 is_a: EFO:0000795 ! animal developmental tissue [Term] id: FBbt:00005422 name: amnioserosa anlage in statu nascendi namespace: fly_anatomy.ontology def: "Anlage in statu nascendi of the amnioserosa in a stage 5 embryo that will give rise to the amnioserosa anlage." [FBC:VH] subset: cur synonym: "A0amnioser" RELATED [FBC:DOS] synonym: "Asn amnioser" EXACT [FBC:MMC] xref: FBbt:00005422 is_a: UBERON:0002050 ! embryonic structure [Term] id: FBbt:00005424 name: hindgut anlage in statu nascendi namespace: fly_anatomy.ontology def: "Anlage in statu nascendi of the hindgut in a stage 5 embryo that will give rise to the hindgut anlage." [FBC:VH] subset: cur synonym: "A0HiGP" RELATED [] synonym: "Asn iHiGP" EXACT [FBC:MMC] xref: FBbt:00005424 is_a: EFO:0003335 ! Drosophila embryonic structure [Term] id: FBbt:00005431 name: foregut anlage namespace: fly_anatomy.ontology def: "Anlage of the embryonic foregut." [FBC:VH] subset: cur subset: EmbDevSlim synonym: "AFoG" RELATED [] xref: FBbt:00005431 is_a: EFO:0003333 ! Drosophila developmental tissue [Term] id: FBbt:00005442 name: hypopharynx anlage namespace: fly_anatomy.ontology subset: cur subset: EmbDevSlim synonym: "A HyPh" RELATED [FBC:DOS] synonym: "hypopharynx specific anlage" RELATED [] xref: FBbt:00005442 is_a: EFO:0003333 ! Drosophila developmental tissue relationship: part_of FBbt:00005431 ! foregut anlage [Term] id: FBbt:00005466 name: pericardial cell primordium namespace: fly_anatomy.ontology def: "." [FBC:VH] subset: cur subset: EmbDevSlim synonym: "pericardial cell specific anlage" RELATED [] xref: FBbt:00005466 is_a: EFO:0003333 ! Drosophila developmental tissue [Term] id: FBbt:00005498 name: dorsal pharyngeal muscle primordium namespace: fly_anatomy.ontology subset: cur subset: EmbDevSlim synonym: "P1 ParMus" RELATED [FBC:DOS] xref: FBbt:00005498 is_a: EFO:0000795 ! animal developmental tissue [Term] id: FBbt:00005501 name: Malpighian tubule main body primordium namespace: fly_anatomy.ontology subset: cur subset: EmbDevSlim synonym: "P1 MalTB" RELATED [FBC:DOS] xref: FBbt:00005501 is_a: EFO:0003335 ! Drosophila embryonic structure [Term] id: FBbt:00005504 name: small intestine primordium namespace: fly_anatomy.ontology subset: cur subset: EmbDevSlim synonym: "P1 SmInt" RELATED [FBC:DOS] synonym: "small intestine specific anlage" RELATED [] xref: FBbt:00005504 is_a: EFO:0003335 ! Drosophila embryonic structure [Term] id: FBbt:00005505 name: large intestine primordium namespace: fly_anatomy.ontology subset: cur subset: EmbDevSlim synonym: "large intestine specific anlage" RELATED [] synonym: "P1 LaInt" RELATED [FBC:DOS] xref: FBbt:00005505 is_a: EFO:0003335 ! Drosophila embryonic structure [Term] id: FBbt:00005506 name: rectum primordium namespace: fly_anatomy.ontology subset: cur subset: EmbDevSlim synonym: "P1 Rect" RELATED [FBC:DOS] synonym: "rectum specific anlage" RELATED [] xref: FBbt:00005506 is_a: EFO:0003335 ! Drosophila embryonic structure [Term] id: FBbt:00005508 name: mushroom body primordium namespace: fly_anatomy.ontology alt_id: FBbt:00005666 def: "Embryonic structure from which the mushroom body is derived. The development of the mushroom body proceeds as follows: axonogenesis of embryonic Kenyon cells starts late in embryonic stage 14. The axons from these cells extend towards the lateral protocerebral tract (LTP). During stage 16, a second set of Kenyon cell fibers form a second tract, closely apposed to the first. By late stage 16, both tracts extend anteriorly beyond the LTP to form the distal part of the peduncle. These tracts make a sharp medial turn close to the boundary with the deutocerebrum to form the medial lobe. By late stage 17 the vertical lobe has emerged as a collateral outgrowth from the point where these tracts bend. Finally, the calyx forms near to the end of embryogenesis." [FlyBase:FBrf0144836] subset: cur synonym: "embryonic central brain mushroom body" EXACT [] xref: FBbt:00005508 xref: VFB:FBbt_00005508 is_a: UBERON:0002050 ! embryonic structure relationship: part_of FBbt:00005542 ! central brain primordium relationship: part_of FBbt:00005662 ! embryonic central brain [Term] id: FBbt:00005510 name: antennal primordium namespace: fly_anatomy.ontology def: "." [FBC:DOS, FBC:VH] subset: cur subset: EmbDevSlim synonym: "antennal primordium1" NARROW [] synonym: "antennal primordium2" NARROW [] synonym: "AntP1" RELATED [] synonym: "AntP2" RELATED [] synonym: "P3 AntOrg" RELATED [FBC:DOS] xref: FBbt:00005510 is_a: EFO:0000795 ! animal developmental tissue [Term] id: FBbt:00005511 name: pars intercerebralis primordium namespace: fly_anatomy.ontology def: "Primordium of the late embryonic pars intercerebralis. At stage 12, the primordium of each hemisphere forms a narrow cluster of approximately 40-50 cells, in the antero-medial procephalon, behind the furrow that separates the procephalon from the clypeolabrum. The primordium then invaginates from the procephalic ectoderm between stages 11 to 13. During stages 13 to 14, the invagination pinches off the surface ectoderm and forms small vesicles in between the outer epithelium and the brain surface." [FlyBase:FBrf0193772] subset: cur xref: FBbt:00005511 is_a: EFO:0003335 ! Drosophila embryonic structure relationship: part_of FBbt:00005542 ! central brain primordium [Term] id: FBbt:00005512 name: salivary gland body primordium namespace: fly_anatomy.ontology alt_id: FBbt:00005621 def: "Primordium that will form the secretory body of the embryonic/larval salivary gland. This primordium is first apparent as two epidermal placodes on the medial surface of the labial buds during stage 11. These placodes invaginate during embryonic stage 11 to form simple tubes on each side of the embryo that are positioned approximately along the dorso-ventral axis. Once internalized, the primordia migrate posteriorly during embryonic stage 12. They fuse to the developing salivary gland common duct by stage 13 and shortly after begin to show signs of secretory activity." [FlyBase:FBrf0089570, FlyBase:FBrf0126988, FlyBase:FBrf0159337] subset: cur subset: EmbDevSlim synonym: "embryonic salivary gland" RELATED [] synonym: "P1 SalG" EXACT [FBC:DOS] synonym: "salivary gland body specific anlage" RELATED [] xref: FBbt:00005512 is_a: EFO:0003335 ! Drosophila embryonic structure [Term] id: FBbt:00005516 name: embryonic primordium of adult muscle precursor namespace: fly_anatomy.ontology alt_id: FBbt:00005471 def: "Primordium of the late extended germ band and dorsal closure embryo that will give rise to the embryonic precursor of the adult muscle." [FBC:MMC] subset: cur synonym: "adult muscle precursor primordium" EXACT [] synonym: "adult muscle precursor specific anlage" RELATED [] xref: FBbt:00005516 is_a: EFO:0000795 ! animal developmental tissue [Term] id: FBbt:00005518 name: somatic muscle primordium namespace: fly_anatomy.ontology def: "Primordium of the embryonic/larval somatic musculature. It arises from the outer layer of the mesoderm. During germ band shortening (stage 13), it segregates into loose segmental clusters. Within these clusters, muscle formation proceeds by fusion of fusion competent myoblasts to muscle founder cells. Formation of the embryonic/larval somatic musculature is complete by stage 17." [FlyBase:FBrf0064793, FlyBase:FBrf0064803, FlyBase:FBrf0089570] subset: cur subset: EmbDevSlim synonym: "P1 SoMus" RELATED [FBC:DOS] synonym: "somatic muscle specific anlage" RELATED [] synonym: "SoMusP2" RELATED [] xref: FBbt:00005518 is_a: EFO:0003335 ! Drosophila embryonic structure [Term] id: FBbt:00005519 name: visceral muscle primordium namespace: fly_anatomy.ontology subset: cur synonym: "ViMusP2" RELATED [] xref: FBbt:00005519 is_a: EFO:0003333 ! Drosophila developmental tissue [Term] id: FBbt:00005523 name: inclusive hindgut primordium namespace: fly_anatomy.ontology subset: cur synonym: "iHiGP2" RELATED [FBC:DOS] xref: FBbt:00005523 is_a: EFO:0003333 ! Drosophila developmental tissue [Term] id: FBbt:00005528 name: midline primordium namespace: fly_anatomy.ontology def: "Region of the developing embryonic central nervous system that is derived from the mesectoderm and found at the midline (Kearney et al., 2004). The mesectodermal cells have undergone further cell division and differentiation and a metameric organization is now more apparent (Kearney et al., 2004)." [FlyBase:FBrf0089570, FlyBase:FBrf0180108, FlyBase:FBrf0195284] comment: Kearney et al. (2004) refer to this as 'mature midline' from stage 13, despite the presence of immature cells. subset: cur synonym: "embryonic mature midline" NARROW [FlyBase:FBrf0180108] xref: FBbt:00005528 is_a: EFO:0003335 ! Drosophila embryonic structure [Term] id: FBbt:00005534 name: gnathal primordium namespace: fly_anatomy.ontology subset: cur synonym: "GnaP2" RELATED [] xref: FBbt:00005534 is_a: EFO:0003333 ! Drosophila developmental tissue [Term] id: FBbt:00005535 name: foregut primordium namespace: fly_anatomy.ontology subset: cur synonym: "FoGP2" RELATED [] xref: FBbt:00005535 is_a: EFO:0003333 ! Drosophila developmental tissue [Term] id: FBbt:00005536 name: stomatogastric nervous system primordium namespace: fly_anatomy.ontology subset: cur subset: EmbDevSlim synonym: "P2 SNS" RELATED [FBC:DOS] synonym: "SnsP2" RELATED [] xref: FBbt:00005536 is_a: EFO:0003335 ! Drosophila embryonic structure [Term] id: FBbt:00005542 name: central brain primordium namespace: fly_anatomy.ontology def: "Primordium of the embryonic central brain in the extended germ band and dorsal closure embryo." [FBC:DOS, FBC:VH] subset: cur subset: EmbDevSlim synonym: "P1 Cen Br" NARROW [FBC:DOS] synonym: "P3 CenBr" NARROW [FBC:DOS] synonym: "ProcEcP2" RELATED [] synonym: "procephalic ectoderm primordium" RELATED [] xref: FBbt:00005542 is_a: EFO:0003335 ! Drosophila embryonic structure [Term] id: FBbt:00005544 name: maxillary sensory complex primordium namespace: fly_anatomy.ontology subset: cur xref: FBbt:00005544 is_a: FBbt:00005551 ! sensory nervous system primordium [Term] id: FBbt:00005545 name: labial sensory complex primordium namespace: fly_anatomy.ontology subset: cur xref: FBbt:00005545 is_a: FBbt:00005551 ! sensory nervous system primordium [Term] id: FBbt:00005546 name: labral sensory complex primordium namespace: fly_anatomy.ontology subset: cur subset: EmbDevSlim synonym: "P3 LrSens" RELATED [FBC:DOS] xref: FBbt:00005546 is_a: FBbt:00005551 ! sensory nervous system primordium [Term] id: FBbt:00005548 name: head mesoderm anlage namespace: fly_anatomy.ontology subset: cur subset: EmbDevSlim synonym: "Asn/A TrMes" RELATED [FBC:DOS] xref: FBbt:00005548 is_a: EFO:0003333 ! Drosophila developmental tissue [Term] id: FBbt:00005550 name: proventriculus primordium namespace: fly_anatomy.ontology subset: cur synonym: "PvP3" RELATED [] xref: FBbt:00005550 is_a: EFO:0003333 ! Drosophila developmental tissue [Term] id: FBbt:00005551 name: sensory nervous system primordium namespace: fly_anatomy.ontology subset: cur synonym: "sensory nervous system specific anlage" RELATED [] xref: FBbt:00005551 is_a: EFO:0003333 ! Drosophila developmental tissue [Term] id: FBbt:00005552 name: ventral sensory complex primordium namespace: fly_anatomy.ontology subset: cur subset: EmbDevSlim synonym: "P3 VenSens" RELATED [FBC:DOS] synonym: "ventral sensory complex specific anlage" RELATED [] xref: FBbt:00005552 is_a: EFO:0003333 ! Drosophila developmental tissue [Term] id: FBbt:00005554 name: ventral nerve cord primordium namespace: fly_anatomy.ontology alt_id: FBbt:00000115 alt_id: FBbt:00005430 def: "Primordium which is formed by the delamination of neuroblasts from the ventral neurogenic region. The first of five waves of delamination starts towards the end of embryonic stage 8. During stage 11, the mesectoderm loses contact with the outer surface and forms neuronal and glial precursors in the midline of this primordium." [FlyBase:FBrf0089570] subset: cur subset: EmbDevSlim synonym: "AvenNeur" RELATED [] synonym: "P3 venNeur" RELATED [FBC:DOS] synonym: "venNeurP3" RELATED [] synonym: "ventral neurectoderm" RELATED [] synonym: "ventral neuroderm primordium" RELATED [] synonym: "ventral neuroectoderm" RELATED [] xref: FBbt:00005554 is_a: EFO:0003334 ! Drosophila component [Term] id: FBbt:00005556 name: apoptotic amnioserosa namespace: fly_anatomy.ontology subset: cur subset: EmbDevSlim xref: FBbt:00005556 is_a: EFO:0000795 ! animal developmental tissue [Term] id: FBbt:00005565 name: embryonic ventral midline neuroblast namespace: fly_anatomy.ontology def: "Neuroblast of the embryonic ventral midline that is a precursor to larval ventral midline neurons, which are found in the ventralmost part of the ventral nerve cord (Kearney et al., 2004). There are four of these cells per neuromere and each divides once to produce two progeny cells (Kearney et al., 2004)." [FlyBase:FBrf0180108] subset: cur xref: FBbt:00005565 xref: VFB:FBbt_00005565 is_a: EFO:0003335 ! Drosophila embryonic structure [Term] id: FBbt:00005566 name: obsolete ventral midline neuron namespace: fly_anatomy.ontology def: "Neuron of the embryonic or larval ventral midline. Two sets of neurons can be distinguished: 3 neurons in the ventral region (UMI, VUM interneuron and VUM motorneuron) and 2 in the medial region (MP1 and MNB)." [FBC:MMC, FlyBase:FBrf0180108] comment: Obsoleted as definition makes this equivalent to 'larval midline neuron' FBbt:00016016 [FBC:CP]. xref: FBbt:00005566 is_obsolete: true replaced_by: FBbt:00016016 [Term] id: FBbt:00005568 name: embryonic antennal sense organ namespace: fly_anatomy.ontology def: "Sense organ of the embryonic antennal segment that gives rise to the dorsal organ of the larval head. It is posterior to the embryonic brain by stage 13 and migrates ventrally and anteriorly to establish its final position, dorsal to the terminal organ, by stage 17." [FlyBase:FBrf0089570] subset: cur synonym: "embryonic dorsal organ" EXACT [FlyBase:FBrf0089570] xref: FBbt:00005568 xref: VFB:FBbt_00005568 is_a: UBERON:0002050 ! embryonic structure [Term] id: FBbt:00005571 name: embryonic tracheole namespace: fly_anatomy.ontology def: "Tracheole of the embryo." [FBC:MMC] subset: cur xref: FBbt:00005571 is_a: EFO:0003334 ! Drosophila component [Term] id: FBbt:00005606 name: embryonic foregut namespace: fly_anatomy.ontology def: "Foregut of the embryo." [FBC:MMC] subset: cur xref: FBbt:00005606 is_a: UBERON:0002050 ! embryonic structure [Term] id: FBbt:00005608 name: embryonic proventriculus inner layer namespace: fly_anatomy.ontology def: "Inner layer of the proventriculus of the embryo. It corresponds to the invaginated esophagus." [FlyBase:FBrf0064792] subset: cur subset: EmbDevSlim xref: FBbt:00005608 is_a: EFO:0003334 ! Drosophila component [Term] id: FBbt:00005609 name: embryonic proventriculus intermediate layer namespace: fly_anatomy.ontology def: "Intermediate layer of the proventriculus of the embryo. It corresponds to the invaginated foregut with alveolar cells. It contains imaginal cells at the level of the intermediate layer at the anterior end of the proventriculus." [FlyBase:FBrf0064792] subset: cur subset: EmbDevSlim xref: FBbt:00005609 is_a: EFO:0003334 ! Drosophila component [Term] id: FBbt:00005610 name: embryonic proventriculus outer layer namespace: fly_anatomy.ontology def: "Outer layer of the proventriculus of the embryo. It corresponds to the visceral mesoderm, containing cells that secrete the peritrophic membrane." [FlyBase:FBrf0064792] subset: cur subset: EmbDevSlim xref: FBbt:00005610 is_a: EFO:0003334 ! Drosophila component [Term] id: FBbt:00005611 name: embryonic precursor of adult foregut namespace: fly_anatomy.ontology def: "Imaginal cell, set aside during embryonic development, that will give rise to the adult posterior foregut. These cells are found in a ring at the anterior part of the proventriculus, the foregut imaginal ring." [FlyBase:FBrf0064792] subset: cur subset: EmbDevSlim synonym: "adult foregut precursor" EXACT [] xref: FBbt:00005611 is_a: EFO:0000795 ! animal developmental tissue [Term] id: FBbt:00005612 name: embryonic esophagus namespace: fly_anatomy.ontology def: "Esophagus of the embryo. It invaginates to form part of the proventriculus." [FlyBase:FBrf0064792] subset: cur subset: EmbDevSlim xref: FBbt:00005612 is_a: UBERON:0002050 ! embryonic structure relationship: part_of FBbt:00005606 ! embryonic foregut [Term] id: FBbt:00005614 name: embryonic epipharynx namespace: fly_anatomy.ontology def: "Floor of the embryonic pharynx." [FlyBase:FBrf0089570] subset: cur subset: EmbDevSlim xref: FBbt:00005614 is_a: UBERON:0002050 ! embryonic structure relationship: part_of FBbt:00005606 ! embryonic foregut [Term] id: FBbt:00005616 name: embryonic foregut sensory structure namespace: fly_anatomy.ontology def: "Any internal compound sense organ (FBbt:00007236) that is part of some embryonic foregut (FBbt:00005606)." [FBC:Autogenerated] subset: cur xref: FBbt:00005616 xref: VFB:FBbt_00005616 is_a: UBERON:0002050 ! embryonic structure relationship: part_of FBbt:00005606 ! embryonic foregut [Term] id: FBbt:00005618 name: embryonic maxillary sensory complex namespace: fly_anatomy.ontology def: "Sense organ of the embryonic maxillary segment that gives rise to the terminal organ of the larval head. It is posterior and ventral to the embryonic brain by stage 13 and migrates ventrally and anteriorly to establish its final position, ventral to the dorsal organ, by stage 17." [FlyBase:FBrf0089570] subset: cur subset: EmbDevSlim synonym: "embryonic terminal organ" EXACT [FlyBase:FBrf0089570] xref: FBbt:00005618 xref: VFB:FBbt_00005618 is_a: EFO:0003335 ! Drosophila embryonic structure [Term] id: FBbt:00005619 name: embryonic labial sensory complex namespace: fly_anatomy.ontology subset: cur subset: EmbDevSlim xref: FBbt:00005619 is_a: EFO:0003334 ! Drosophila component [Term] id: FBbt:00005630 name: embryonic hindgut namespace: fly_anatomy.ontology def: "Posterior region of the embryonic gut, posterior to the embryonic midgut. It is divided into 3 domains: small and large intestine and rectum. Border cells separate these three regions." [FlyBase:FBrf0134749] subset: cur subset: EmbDevSlim xref: FBbt:00005630 is_a: EFO:0003335 ! Drosophila embryonic structure [Term] id: FBbt:00005643 name: embryonic Malpighian tubule tip cell namespace: fly_anatomy.ontology def: "Tip cell of the embryonic Malpighian tubule." [FBC:MMC] subset: cur xref: FBbt:00005643 is_a: EFO:0003335 ! Drosophila embryonic structure [Term] id: FBbt:00005646 name: embryonic precursor of adult hindgut namespace: fly_anatomy.ontology def: "Imaginal cell, set aside during embryonic development, that will give rise to the adult hindgut. These cells are found in two rings of the hindgut; immediately posterior to the ureters of the Malpighian tubules, and at the anus. These two rings grow out and eventually unite." [FlyBase:FBrf0064792] subset: cur synonym: "adult hindgut precursor" EXACT [] xref: FBbt:00005646 is_a: EFO:0000795 ! animal developmental tissue relationship: part_of FBbt:00005630 ! embryonic hindgut [Term] id: FBbt:00005662 name: embryonic central brain namespace: fly_anatomy.ontology def: "Brain of the embryo that excludes the optic lobes. It includes the protocerebrum, deutocerebrum and tritocerebrum." [FBC:MMC] subset: cur subset: EmbDevSlim xref: FBbt:00005662 xref: VFB:FBbt_00005662 is_a: UBERON:0002050 ! embryonic structure [Term] id: FBbt:00005663 name: embryonic central brain glial cell namespace: fly_anatomy.ontology def: "Glial cell of the embryonic central brain." [FBC:MMC] subset: cur subset: EmbDevSlim synonym: "embryonic central brain glia" EXACT [] xref: FBbt:00005663 xref: VFB:FBbt_00005663 is_a: UBERON:0002050 ! embryonic structure relationship: part_of FBbt:00005662 ! embryonic central brain [Term] id: FBbt:00005664 name: embryonic central brain surface glial cell namespace: fly_anatomy.ontology def: "Surface glial cell of the embryonic central brain." [FBC:MMC] subset: cur subset: EmbDevSlim synonym: "embryonic central brain surface glia" EXACT [] xref: FBbt:00005664 xref: VFB:FBbt_00005664 is_a: FBbt:00005663 ! embryonic central brain glial cell [Term] id: FBbt:00005665 name: embryonic central brain neuron namespace: fly_anatomy.ontology def: "Neuron of the embryonic central brain." [FBC:MMC] subset: cur xref: FBbt:00005665 xref: VFB:FBbt_00005665 is_a: UBERON:0002050 ! embryonic structure [Term] id: FBbt:00005667 name: embryonic pars intercerebralis namespace: fly_anatomy.ontology def: "Pars intercerebralis of the late embryo that develops from the pars intercerebralis primordium. From stage 15, the primordia of both hemispheres merge at the midline." [FlyBase:FBrf0193772] subset: cur synonym: "embryonic central brain pars intercerebralis" EXACT [] xref: FBbt:00005667 xref: VFB:FBbt_00005667 is_a: UBERON:0002050 ! embryonic structure relationship: part_of FBbt:00005662 ! embryonic central brain [Term] id: FBbt:00005668 name: embryonic frontal ganglion namespace: fly_anatomy.ontology def: "A small paired ganglion of the embryonic stomatogastric nervous system attached to the anterior surface of the brain. It consists of approximately 25-30 neurons that form a U-shaped ganglion wedged between the anterior aspect of the brain hemispheres and the dorsal pharynx. The somata of the neurons surround a sparse neuropil domain and are enclosed in a glial sheath. Lateral projections from these neurons form the frontal connective. Medial projections that turn anteriorly on reaching the midline form the frontal nerve. Medial projections that turn posteriorly on reaching the midline form the recurrent nerve." [FlyBase:FBrf0064803, FlyBase:FBrf0089570] comment: The term parapharyngeal ganglion was previously used to designate the embryonic frontal ganglion (Campos-Ortega and Hartenstein, 1997). subset: cur subset: EmbDevSlim synonym: "parapharyngeal ganglion" RELATED [FlyBase:FBrf0089570] xref: FBbt:00005668 xref: VFB:FBbt_00005668 is_a: UBERON:0002050 ! embryonic structure relationship: part_of FBbt:00001069 ! embryonic stomatogastric nervous system [Term] id: FBbt:00005669 name: embryonic hypocerebral ganglion namespace: fly_anatomy.ontology def: "Small ganglion of the embryonic stomatogastric nervous system. By stage 16 it is located on the left hand side of the embryo, between the two brain hemispheres and behind the supraesophageal commissure. It is more compact than the paraesophageal ganglion and occupies a more dorsal position. It contains approximately 10-12 neurons." [FlyBase:FBrf0078614, FlyBase:FBrf0089570] subset: cur xref: FBbt:00005669 xref: VFB:FBbt_00005669 is_a: EFO:0003334 ! Drosophila component relationship: part_of FBbt:00001069 ! embryonic stomatogastric nervous system [Term] id: FBbt:00005670 name: obsolete embryonic esophageal ganglion namespace: fly_anatomy.ontology comment: This term has been obsoleted because it corresponds to two ganglia: paraesophageal and hypocerebral, which some literature, such as FBrf0075001, name 'esophageal ganglion 1' and 'esophageal ganglion 2' [FBC:MMC]. mc27092016 subset: cur subset: EmbDevSlim xref: FBbt:00005670 is_obsolete: true consider: FBbt:00002632 consider: FBbt:00002635 [Term] id: FBbt:00005673 name: lateral cord glial cell namespace: fly_anatomy.ontology subset: cur subset: EmbDevSlim synonym: "lateral cord glia" EXACT [] xref: FBbt:00005673 xref: VFB:FBbt_00005673 is_a: EFO:0003334 ! Drosophila component [Term] id: FBbt:00005675 name: lateral cord neuron namespace: fly_anatomy.ontology subset: cur subset: EmbDevSlim xref: FBbt:00005675 xref: VFB:FBbt_00005675 is_a: EFO:0003334 ! Drosophila component [Term] id: FBbt:00005744 name: embryonic dorsal epidermis namespace: fly_anatomy.ontology def: "Epidermis of the dorsal region of the embryo." [FBC:MMC] subset: cur subset: EmbDevSlim xref: FBbt:00005744 is_a: UBERON:0002050 ! embryonic structure [Term] id: FBbt:00005745 name: embryonic dorsal apodeme namespace: fly_anatomy.ontology def: "Dorsal halve of an embryonic apodeme. The discontinuity between dorsal and ventral halves is visible on a lateral view." [FlyBase:FBrf0089570] subset: cur subset: EmbDevSlim xref: FBbt:00005745 is_a: UBERON:0002050 ! embryonic structure [Term] id: FBbt:00005746 name: embryonic leading edge cell namespace: fly_anatomy.ontology def: "Cell at the leading edge of the dorsal epidermis during dorsal closure." [FBC:DOS] subset: cur subset: EmbDevSlim xref: FBbt:00005746 is_a: EFO:0003334 ! Drosophila component relationship: part_of FBbt:00005744 ! embryonic dorsal epidermis [Term] id: FBbt:00005748 name: embryonic anal pad namespace: fly_anatomy.ontology def: "Anal pad of the embryo." [FBC:MMC] subset: cur subset: EmbDevSlim xref: FBbt:00005748 is_a: UBERON:0002050 ! embryonic structure [Term] id: FBbt:00005749 name: embryonic ventral apodeme namespace: fly_anatomy.ontology def: "Ventral halve of an embryonic apodeme. The discontinuity between dorsal and ventral halves is visible on a lateral view." [FlyBase:FBrf0089570] subset: cur subset: EmbDevSlim xref: FBbt:00005749 is_a: EFO:0003334 ! Drosophila component [Term] id: FBbt:00005822 name: embryonic outer optic lobe primordium namespace: fly_anatomy.ontology def: "Primordium of the late extended germ band and closure embryo that gives rise to the larval outer optic anlage. It develops from the posterior lip of the visual primordium." [FBC:DOS, FBC:VH, FlyBase:FBrf0089570, FlyBase:FBrf0151275] subset: cur subset: EmbDevSlim synonym: "P1 OOA" EXACT [FBC:DOS] xref: FBbt:00005822 is_a: EFO:0003335 ! Drosophila embryonic structure [Term] id: FBbt:00005824 name: lateral cord surface glial cell namespace: fly_anatomy.ontology subset: cur synonym: "lateral cord surface glia" EXACT [] xref: FBbt:00005824 xref: VFB:FBbt_00005824 is_a: FBbt:00005673 ! lateral cord glial cell [Term] id: FBbt:00005834 name: ventral imaginal tissue namespace: fly_anatomy.ontology def: "Imaginal tissue that has a ventral location." [] subset: cur synonym: "ventral imaginal precursor" RELATED [] xref: FBbt:00005834 is_a: EFO:0003333 ! Drosophila developmental tissue [Term] id: FBbt:00007049 name: head visceral muscle primordium namespace: fly_anatomy.ontology xref: FBbt:00007049 is_a: FBbt:00005519 ! visceral muscle primordium [Term] id: FBbt:00007435 name: endocrine system component namespace: fly_anatomy.ontology alt_id: FBbt:00007293 def: "Any material anatomical entity (FBbt:00007016) that capable of some hormone secretion (GO:0046879) and has target end location some circulatory system (FBbt:00005057)." [FBC:Autogenerated] subset: hidden_assertion synonym: "endocrine organ" EXACT [] is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000949 ! endocrine system [Term] id: FBbt:00015256 name: central brain anlage namespace: fly_anatomy.ontology def: "Anlage of the embryonic central brain in the gastrula embryo that will give rise to the central brain primordium." [FBC:MMC, FBC:VH] subset: cur subset: EmbDevSlim synonym: "A CenBr" EXACT [FBC:DOS] synonym: "AProcEC" RELATED [] synonym: "procephalic ectoderm anlage" RELATED [] xref: FBbt:00015256 is_a: EFO:0003333 ! Drosophila developmental tissue [Term] id: FBbt:00016000 name: hypopharynx anlage in statu nascendi namespace: fly_anatomy.ontology def: "Anlage in statu nascendi in the blastoderm embryo that will give rise to the embryonic hypopharynx." [FBC:VH] subset: cur subset: EmbDevSlim synonym: "Asn HyPh" EXACT [FBC:DOS] xref: FBbt:00016000 is_a: EFO:0003335 ! Drosophila embryonic structure [Term] id: FBbt:00016001 name: hypopharyngeal sense organ primordium namespace: fly_anatomy.ontology def: "Primordium of the late extended germ band and closure stage embryo that will give rise to the hypopharyngeal organ of the larva pharynx." [FBC:VH] subset: cur subset: EmbDevSlim synonym: "P3 HySens" EXACT [FBC:DOS] xref: FBbt:00016001 is_a: EFO:0003335 ! Drosophila embryonic structure [Term] id: FBbt:00016016 name: larval midline neuron namespace: fly_anatomy.ontology def: "Larval unpaired primary neuron with its cell body found along the midline of the nervous system (Fontana and Crews, 2012). There are around 18 of these per segment in the late embryo, which are derived from midline precursors (MP1-6) or the median neuroblast (MNB) (Fontana and Crews, 2012). Two sets of neurons can be distinguished; ventral neurons (including MP3 and VUM neurons) and medial neurons (including MP1 and MNB descendants) (Kearney et al., 2004)." [FlyBase:FBrf0180108, FlyBase:FBrf0219766] subset: cur xref: VFB:FBbt_00016016 is_a: EFO:0003334 ! Drosophila component [Term] id: FBbt:00017000 name: amnioserosa primordium namespace: fly_anatomy.ontology def: "Primordium of the amnioserosa in the early extended germ band embryo." [FBC:VH] subset: cur synonym: "P1 amnioserosa" EXACT [FBC:DOS] xref: FBbt:00017000 is_a: EFO:0003333 ! Drosophila developmental tissue [Term] id: FBbt:00017003 name: visceral tracheal branch primordium namespace: fly_anatomy.ontology alt_id: FBbt:00005587 def: "Tracheal primordium that develops into the embryonic/larval visceral branch. It branches anteriorly from the dorsal portion of the transverse connective primordium during stage 12, coursing anteriorly and inwardly towards the gut." [FlyBase:FBrf0064787] subset: cur subset: EmbDevSlim synonym: "embryonic visceral branch" EXACT [] synonym: "intestinal branch" RELATED [] synonym: "k branch" RELATED [] synonym: "P1 VisTra" EXACT [FBC:DOS] synonym: "visceral branch specific anlage" EXACT [] xref: FBbt:00017003 is_a: FBbt:00017011 ! primary segmental tracheal branch primordium [Term] id: FBbt:00017008 name: longitudinal visceral muscle primordium namespace: fly_anatomy.ontology alt_id: FBbt:00000108 def: "This primordium first becomes distinct at around stage 11 as a group of cells at the posterior tip of the visceral mesoderm (the tail end of the germ-band). During germ-band retraction these cells migrate anteriorly and split into two clusters - one on either side of the posterior midgut primordium. When these cell reach the anterior tip of the posterior midgut primordium they disperse anteriorly as two rows along the germband. Finally, during midgut closure these cells spread regularly over the underlying circular visceral muscle primordium." [FlyBase:FBrf0089570, FlyBase:FBrf0111405] subset: cur subset: EmbDevSlim synonym: "caudal visceral mesoderm" EXACT [FlyBase:FBrf0242949] synonym: "CVM" EXACT [FlyBase:FBrf0242949] synonym: "longitudinal visceral mesoderm primordium" RELATED [] synonym: "longitudinal visceral muscle precursor" EXACT [FlyBase:FBrf0242949] synonym: "P1 LoViMus" EXACT [FBC:DOS] xref: FBbt:00017008 is_a: FBbt:00005519 ! visceral muscle primordium [Term] id: FBbt:00017009 name: ring gland primordium namespace: fly_anatomy.ontology def: "." [FBC:VH] subset: cur xref: FBbt:00017009 is_a: EFO:0003334 ! Drosophila component [Term] id: FBbt:00017010 name: tracheal dorsal trunk primordium namespace: fly_anatomy.ontology alt_id: FBbt:00005576 def: "Region of the tracheal primordium that gives rise to the embryonic/larval dorsal trunk." [FBC:DOS] subset: cur subset: EmbDevSlim synonym: "dorsal longitudinal trunk primordium" EXACT [] synonym: "dorsal trunk specific anlage" EXACT [] synonym: "DT" RELATED [] synonym: "embryonic dorsal trunk" EXACT [] synonym: "great lateral trunk" RELATED [] synonym: "P1 dorTra" EXACT [FBC:DOS] xref: FBbt:00005489 is_a: EFO:0000795 ! animal developmental tissue [Term] id: FBbt:00017011 name: primary segmental tracheal branch primordium namespace: fly_anatomy.ontology def: "Primordium that develops into a primary trachea." [FBC:VH] subset: cur subset: EmbDevSlim synonym: "P1 SegTra" EXACT [FBC:DOS] synonym: "primary segmental branch specific anlage" RELATED [] xref: FBbt:00017011 is_a: EFO:0003333 ! Drosophila developmental tissue [Term] id: FBbt:00017019 name: cibarium primordium namespace: fly_anatomy.ontology def: "." [FBC:VH] subset: cur synonym: "atrium primordium" RELATED [] xref: FBbt:00017019 is_a: EFO:0003334 ! Drosophila component [Term] id: FBbt:00017020 name: oenocyte primordium namespace: fly_anatomy.ontology def: "A 'whorl' of larval oenocyte precursors which forms transiently around each 'chordotonal precursor cell C1' during stage 11. It ceases to exist when these cells delaminate during stages 11 and 12." [FlyBase:FBrf0180129] subset: cur synonym: "oenocyte specific anlage" RELATED [] xref: FBbt:00017020 is_a: EFO:0003333 ! Drosophila developmental tissue [Term] id: FBbt:00017027 name: gastric caecum primordium namespace: fly_anatomy.ontology alt_id: FBbt:00005629 def: "Primordium of the gastric caecum of the larva. There are four of these per midgut. They first become apparent as evaginations at the anterior end of the fused midgut primordium during stage 16." [FlyBase:FBrf0064792] subset: cur synonym: "embryonic gastric caecum" EXACT [] xref: FBbt:00005629 is_a: UBERON:0002050 ! embryonic structure [Term] id: FBbt:10005249 name: embryonic primordium of adult eye namespace: fly_anatomy.ontology def: "Primordium of the embryo that will give rise to the adult eye. It corresponds to the most anterior region that develops from the visual primordium." [FlyBase:FBrf0089570, FlyBase:FBrf0151275] subset: cur subset: EmbDevSlim synonym: "adult eye primordium" EXACT [] synonym: "P1 Eye" EXACT [FBC:DOS] xref: FBbt:00005515 is_a: EFO:0000795 ! animal developmental tissue [Term] id: FBdv:00005331 name: dorsal closure stage def: "Temporal ordering number - 330. A collective term for stages 13-15." [] is_a: EFO:0005859 ! Drosophila embryo stage [Term] id: FMA:24984 name: calf synonym: "Calf of leg" EXACT [] synonym: "Posterior curral region" EXACT [] synonym: "Posterior leg region" EXACT [] synonym: "Posterior part of leg" EXACT [] synonym: "Posterior region of leg" EXACT [] synonym: "Sural region" EXACT [] xref: FMA:24984 xref: NCIt:C93027 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000978 ! leg property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: FMA:3804 name: proximal portion of right coronary artery synonym: "Anterior segment of right coronary artery" EXACT [] synonym: "First segment of right coronary artery" EXACT [] xref: FMA:3804 is_a: UBERON:0001621 ! coronary artery property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: FMA:3832 name: distal portion of right coronary artery synonym: "Posterior segment of right coronary artery" EXACT [] synonym: "Second segment of right coronary artery" EXACT [] xref: FMA:3832 is_a: UBERON:0001621 ! coronary artery property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: FMA:3866 name: proximal portion of anterior interventricular branch of left coronary artery synonym: "Proximal portion of anterior descending branch of left coronary artery" EXACT [] xref: FMA:3866 is_a: UBERON:0001621 ! coronary artery property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: FMA:3884 name: distal portion of anterior interventricular branch of left coronary artery synonym: "Distal portion of anterior descending branch of left coronary artery" EXACT [] xref: FMA:3884 is_a: UBERON:0001621 ! coronary artery property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: FMA:3897 name: proximal portion of circumflex branch of left coronary artery xref: FMA:3897 is_a: UBERON:0001621 ! coronary artery property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: FMA:3906 name: distal portion of circumflex branch of left coronary artery synonym: "Posterior segment of circumflex branch of left coronary artery" EXACT [] synonym: "Second segment of circumflex branch of left coronary artery" EXACT [] xref: FMA:3906 is_a: UBERON:0001621 ! coronary artery property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: FMA:6670 name: renal branch of vagus nerve xref: FMA:6670 is_a: UBERON:0001759 ! vagus nerve property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: FMA:66762 name: synovial membrane def: "The inner layer of the connective tissue that seals the joint." [] def: "The inner membrane of a joint capsule surrounding a freely movable joint. It is loosely attached to the external fibrous capsule and secretes synovial fluid. (MeSH)" [] synonym: "Synovium" EXACT [] xref: MeSH:D013583 xref: NCIt:C12473 is_a: EFO:0001958 ! joint component relationship: part_of UBERON:0000982 ! skeletal joint property_value: IAO:0000117 "James Malone" xsd:string [Term] id: GO:0000003 name: reproduction namespace: biological_process alt_id: GO:0019952 alt_id: GO:0050876 def: "The production of new individuals that contain some portion of genetic material inherited from one or more parent organisms." [GOC:go_curators, GOC:isa_complete, GOC:jl, ISBN:0198506732] subset: goslim_agr subset: goslim_chembl subset: goslim_flybase_ribbon subset: goslim_pir subset: goslim_plant synonym: "reproductive physiological process" EXACT [] xref: NCIt:C21173 xref: SNOMEDCT:272515006 xref: Wikipedia:Reproduction is_a: GO:0008150 ! biological_process [Term] id: GO:0000226 name: microtubule cytoskeleton organization namespace: biological_process def: "A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins." [GOC:mah] subset: goslim_pombe synonym: "microtubule cytoskeleton organisation" EXACT [GOC:mah] synonym: "microtubule cytoskeleton organization and biogenesis" RELATED [GOC:mah] is_a: GO:0006996 ! organelle organization property_value: IAO:0000233 https://github.com/geneontology/go-ontology/issues/23114 xsd:anyURI property_value: IAO:0000233 https://github.com/geneontology/go-ontology/issues/23195 xsd:anyURI [Term] id: GO:0000278 name: mitotic cell cycle namespace: biological_process alt_id: GO:0007067 def: "Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent." [GOC:mah, ISBN:0815316194, Reactome:69278] comment: Note that this term should not be confused with 'GO:0140014 ; mitotic nuclear division'. 'GO:0000278 ; mitotic cell cycle represents the entire mitotic cell cycle, while 'GO:0140014 ; mitotic nuclear division' specifically represents the actual nuclear division step of the mitotic cell cycle. subset: goslim_chembl subset: goslim_drosophila subset: goslim_generic subset: goslim_yeast synonym: "mitosis" RELATED [] xref: Wikipedia:Mitosis is_a: GO:0007049 ! cell cycle [Term] id: GO:0001775 name: cell activation namespace: biological_process def: "A multicellular organismal process by which exposure to an activating factor such as a cellular or soluble ligand results in a change in the morphology or behavior of a cell." [GOC:mgi_curators] subset: goslim_pir is_a: GO:0009987 ! cellular process is_a: GO:0032501 ! multicellular organismal process property_value: IAO:0000233 https://github.com/geneontology/go-ontology/issues/24416 xsd:anyURI [Term] id: GO:0002445 name: type II hypersensitivity namespace: biological_process def: "An inflammatory response resulting in cell death or dysfunction mediated by activation of the classical complement pathway or induction of effector cell phagocytosis, cytolysis mechanisms via complement or Fc receptors following the binding of antibodies to cell surface antigens on a target cell, or mediated by the direct binding of antibody to cellular receptors." [GOC:add, ISBN:0781735149] xref: NCIt:C114345 xref: Wikipedia:Type_II_hypersensitivity is_a: GO:0002524 ! hypersensitivity [Term] id: GO:0002524 name: hypersensitivity namespace: biological_process def: "An inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system." [GOC:jal, ISBN:0781735149] synonym: "hypersensitivity response" RELATED [ISBN:0781735149] xref: Wikipedia:Hypersensitivity is_a: GO:0002526 ! acute inflammatory response [Term] id: GO:0002526 name: acute inflammatory response namespace: biological_process def: "Inflammation which comprises a rapid, short-lived, relatively uniform response to acute injury or antigenic challenge and is characterized by accumulations of fluid, plasma proteins, and granulocytic leukocytes. An acute inflammatory response occurs within a matter of minutes or hours, and either resolves within a few days or becomes a chronic inflammatory response." [GO_REF:0000022, GOC:add, ISBN:0781735149] is_a: GO:0006954 ! inflammatory response [Term] id: GO:0002682 name: regulation of immune system process namespace: biological_process def: "Any process that modulates the frequency, rate, or extent of an immune system process." [GOC:add] is_a: GO:0050789 ! regulation of biological process [Term] id: GO:0002694 name: regulation of leukocyte activation namespace: biological_process def: "Any process that modulates the frequency, rate, or extent of leukocyte activation." [GOC:add] synonym: "regulation of immune cell activation" EXACT [] synonym: "regulation of leucocyte activation" EXACT [] is_a: GO:0002682 ! regulation of immune system process is_a: GO:0050865 ! regulation of cell activation [Term] id: GO:0002695 name: negative regulation of leukocyte activation namespace: biological_process def: "Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte activation." [GOC:add] synonym: "down regulation of leukocyte activation" EXACT [] synonym: "down-regulation of leukocyte activation" EXACT [] synonym: "downregulation of leukocyte activation" EXACT [] synonym: "inhibition of leukocyte activation" NARROW [] synonym: "negative regulation of immune cell activation" EXACT [] synonym: "negative regulation of leucocyte activation" EXACT [] is_a: GO:0002694 ! regulation of leukocyte activation [Term] id: GO:0003008 name: system process namespace: biological_process def: "A multicellular organismal process carried out by any of the organs or tissues in an organ system. An organ system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a biological objective." [GOC:mtg_cardio] synonym: "organ system process" EXACT [] is_a: GO:0032501 ! multicellular organismal process [Term] id: GO:0003012 name: muscle system process namespace: biological_process def: "A organ system process carried out at the level of a muscle. Muscle tissue is composed of contractile cells or fibers." [GOC:mtg_cardio] subset: goslim_drosophila subset: goslim_generic synonym: "muscle physiological process" RELATED [] is_a: GO:0003008 ! system process [Term] id: GO:0003014 name: renal system process namespace: biological_process def: "A organ system process carried out by any of the organs or tissues of the renal system. The renal system maintains fluid balance, and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. In humans, the renal system comprises a pair of kidneys, a pair of ureters, urinary bladder, urethra, sphincter muscle and associated blood vessels; in other species, the renal system may comprise related structures (e.g., nephrocytes and malpighian tubules in Drosophila)." [GOC:cjm, GOC:mtg_cardio, GOC:mtg_kidney_jan10] subset: goslim_generic synonym: "excretory system process" EXACT [] synonym: "kidney system process" RELATED [] is_a: GO:0003008 ! system process [Term] id: GO:0003092 name: renal water retention namespace: biological_process def: "The process in which renal water excretion is decreased." [GOC:mtg_cardio] synonym: "negative regulation of renal water excretion" EXACT [] is_a: GO:0003014 ! renal system process [Term] id: GO:0003674 name: molecular_function namespace: molecular_function alt_id: GO:0005554 def: "A molecular process that can be carried out by the action of a single macromolecular machine, usually via direct physical interactions with other molecular entities. Function in this sense denotes an action, or activity, that a gene product (or a complex) performs. These actions are described from two distinct but related perspectives: (1) biochemical activity, and (2) role as a component in a larger system/process." [GOC:pdt] comment: Note that, in addition to forming the root of the molecular function ontology, this term is recommended for use for the annotation of gene products whose molecular function is unknown. When this term is used for annotation, it indicates that no information was available about the molecular function of the gene product annotated as of the date the annotation was made; the evidence code 'no data' (ND), is used to indicate this. Despite its name, this is not a type of 'function' in the sense typically defined by upper ontologies such as Basic Formal Ontology (BFO). It is instead a BFO:process carried out by a single gene product or complex. subset: goslim_candida subset: goslim_chembl subset: goslim_metagenomics subset: goslim_pir subset: goslim_plant subset: goslim_yeast synonym: "molecular function" EXACT [] is_a: BFO:0000034 ! function [Term] id: GO:0005575 name: cellular_component namespace: cellular_component alt_id: GO:0008372 def: "A location, relative to cellular compartments and structures, occupied by a macromolecular machine when it carries out a molecular function. There are two ways in which the gene ontology describes locations of gene products: (1) relative to cellular structures (e.g., cytoplasmic side of plasma membrane) or compartments (e.g., mitochondrion), and (2) the stable macromolecular complexes of which they are parts (e.g., the ribosome)." [GOC:pdt, NIF_Subcellular:sao1337158144] comment: Note that, in addition to forming the root of the cellular component ontology, this term is recommended for use for the annotation of gene products whose cellular component is unknown. When this term is used for annotation, it indicates that no information was available about the cellular component of the gene product annotated as of the date the annotation was made; the evidence code 'no data' (ND), is used to indicate this. subset: goslim_candida subset: goslim_chembl subset: goslim_metagenomics subset: goslim_pir subset: goslim_plant subset: goslim_yeast synonym: "cell or subcellular entity" EXACT [] synonym: "cellular component" EXACT [] synonym: "subcellular entity" RELATED [NIF_Subcellular:nlx_subcell_100315] xref: NIF_Subcellular:sao1337158144 is_a: BFO:0000040 ! material entity [Term] id: GO:0005622 name: intracellular anatomical structure namespace: cellular_component def: "A component of a cell contained within (but not including) the plasma membrane. In eukaryotes it includes the nucleus and cytoplasm." [ISBN:0198506732] subset: gocheck_do_not_annotate subset: goslim_chembl subset: goslim_metagenomics subset: goslim_plant synonym: "internal to cell" EXACT [] synonym: "intracellular" EXACT [] synonym: "nucleocytoplasm" RELATED [GOC:mah] synonym: "protoplasm" EXACT [] synonym: "protoplast" RELATED [GOC:mah] xref: NCIt:C28217 xref: SNOMEDCT:83167003 xref: Wikipedia:Intracellular is_a: GO:0005575 ! cellular_component property_value: IAO:0000233 https://github.com/geneontology/go-ontology/issues/17776 xsd:anyURI [Term] id: GO:0005634 name: nucleus namespace: cellular_component def: "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent." [GOC:go_curators] subset: goslim_agr subset: goslim_candida subset: goslim_chembl subset: goslim_drosophila subset: goslim_flybase_ribbon subset: goslim_generic subset: goslim_metagenomics subset: goslim_mouse subset: goslim_pir subset: goslim_plant subset: goslim_yeast synonym: "cell nucleus" EXACT [] synonym: "horsetail nucleus" NARROW [GOC:al, GOC:mah, GOC:vw, PMID:15030757] xref: NCIt:C13197 xref: NIF_Subcellular:sao1702920020 xref: SNOMEDCT:84640000 xref: Wikipedia:Cell_nucleus is_a: GO:0043231 ! intracellular membrane-bounded organelle [Term] id: GO:0005730 name: nucleolus namespace: cellular_component def: "A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome." [ISBN:0198506732] subset: goslim_candida subset: goslim_chembl subset: goslim_drosophila subset: goslim_generic subset: goslim_pir subset: goslim_plant subset: goslim_yeast xref: NCIt:C13196 xref: NIF_Subcellular:sao1820400233 xref: SNOMEDCT:15982001 xref: Wikipedia:Nucleolus is_a: GO:0043232 ! intracellular non-membrane-bounded organelle relationship: part_of GO:0031981 ! nuclear lumen [Term] id: GO:0005737 name: cytoplasm namespace: cellular_component def: "The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures." [ISBN:0198547684] subset: goslim_candida subset: goslim_chembl subset: goslim_metagenomics subset: goslim_pir subset: goslim_plant subset: goslim_yeast subset: prokaryote_subset xref: MeSH:D003593 xref: NCIt:C13226 xref: Wikipedia:Cytoplasm is_a: GO:0005575 ! cellular_component relationship: part_of GO:0005622 ! intracellular anatomical structure property_value: IAO:0000233 https://github.com/geneontology/go-ontology/issues/23023 xsd:anyURI [Term] id: GO:0005739 name: mitochondrion namespace: cellular_component def: "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration." [GOC:giardia, ISBN:0198506732] comment: Some anaerobic or microaerophilic organisms (e.g. Entamoeba histolytica, Giardia intestinalis and several Microsporidia species) do not have mitochondria, and contain mitochondrion-related organelles (MROs) instead, called mitosomes or hydrogenosomes, very likely derived from mitochondria. To annotate gene products located in these mitochondrial relics in species such as Entamoeba histolytica, Giardia intestinalis or others, please use GO:0032047 'mitosome' or GO:0042566 'hydrogenosome'. (See PMID:24316280 for a list of species currently known to contain mitochondrion-related organelles.) subset: goslim_agr subset: goslim_candida subset: goslim_chembl subset: goslim_drosophila subset: goslim_flybase_ribbon subset: goslim_generic subset: goslim_mouse subset: goslim_pir subset: goslim_plant subset: goslim_yeast synonym: "mitochondria" EXACT [] xref: NCIt:C13258 xref: NIF_Subcellular:sao1860313010 xref: SNOMEDCT:75056005 xref: Wikipedia:Mitochondrion is_a: GO:0043231 ! intracellular membrane-bounded organelle relationship: part_of GO:0005737 ! cytoplasm [Term] id: GO:0005740 name: mitochondrial envelope namespace: cellular_component def: "The double lipid bilayer enclosing the mitochondrion and separating its contents from the cell cytoplasm; includes the intermembrane space." [GOC:ai, GOC:pz] subset: goslim_candida subset: goslim_yeast is_a: GO:0031967 ! organelle envelope relationship: part_of GO:0005739 ! mitochondrion [Term] id: GO:0005758 name: mitochondrial intermembrane space namespace: cellular_component alt_id: GO:0031971 def: "The region between the inner and outer lipid bilayers of the mitochondrial envelope." [GOC:mah] synonym: "mitochondrial envelope lumen" EXACT [] synonym: "mitochondrial membrane lumen" RELATED [] xref: NIF_Subcellular:sao118944228 is_a: GO:0031970 ! organelle envelope lumen relationship: part_of GO:0005740 ! mitochondrial envelope [Term] id: GO:0005764 name: lysosome namespace: cellular_component def: "A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions." [GOC:mah, ISBN:0198506732] subset: goslim_chembl subset: goslim_generic subset: goslim_plant xref: NIF_Subcellular:sao585356902 xref: Wikipedia:Lysosome is_a: GO:0005773 ! vacuole relationship: never_in_taxon NCBITaxon:4751 ! Fungi [Term] id: GO:0005773 name: vacuole namespace: cellular_component def: "A closed structure, found only in eukaryotic cells, that is completely surrounded by unit membrane and contains liquid material. Cells contain one or several vacuoles, that may have different functions from each other. Vacuoles have a diverse array of functions. They can act as a storage organelle for nutrients or waste products, as a degradative compartment, as a cost-effective way of increasing cell size, and as a homeostatic regulator controlling both turgor pressure and pH of the cytosol." [GOC:mtg_sensu, ISBN:0198506732] subset: goslim_agr subset: goslim_candida subset: goslim_chembl subset: goslim_drosophila subset: goslim_flybase_ribbon subset: goslim_generic subset: goslim_mouse subset: goslim_pir subset: goslim_plant subset: goslim_yeast synonym: "vacuolar carboxypeptidase Y" RELATED [] xref: NCIt:C13284 xref: Wikipedia:Vacuole is_a: GO:0043231 ! intracellular membrane-bounded organelle relationship: part_of GO:0005737 ! cytoplasm [Term] id: GO:0005783 name: endoplasmic reticulum namespace: cellular_component def: "The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached)." [ISBN:0198506732] subset: goslim_agr subset: goslim_candida subset: goslim_chembl subset: goslim_drosophila subset: goslim_generic subset: goslim_mouse subset: goslim_pir subset: goslim_plant subset: goslim_yeast synonym: "ER" EXACT [] xref: MeSH:D004721 xref: NCIt:C13230 xref: NIF_Subcellular:sao1036339110 xref: SNOMEDCT:33761008 xref: Wikipedia:Endoplasmic_reticulum is_a: GO:0043231 ! intracellular membrane-bounded organelle relationship: part_of GO:0005737 ! cytoplasm relationship: part_of GO:0012505 ! endomembrane system [Term] id: GO:0005790 name: smooth endoplasmic reticulum namespace: cellular_component def: "The smooth endoplasmic reticulum (smooth ER or SER) has no ribosomes attached to it. The smooth ER is the recipient of the proteins synthesized in the rough ER. Those proteins to be exported are passed to the Golgi complex, the resident proteins are returned to the rough ER and the lysosomal proteins after phosphorylation of their mannose residues are passed to the lysosomes. Glycosylation of the glycoproteins also continues. The smooth ER is the site of synthesis of lipids, including the phospholipids. The membranes of the smooth ER also contain enzymes that catalyze a series of reactions to detoxify both lipid-soluble drugs and harmful products of metabolism. Large quantities of certain compounds such as phenobarbital cause an increase in the amount of the smooth ER." [ISBN:0198506732] synonym: "SER" EXACT [] synonym: "smooth ER" EXACT [] xref: NIF_Subcellular:sao710427438 xref: Wikipedia:Endoplasmic_reticulum#Smooth_endoplasmic_reticulum is_a: GO:0005783 ! endoplasmic reticulum [Term] id: GO:0005791 name: rough endoplasmic reticulum namespace: cellular_component def: "The rough (or granular) endoplasmic reticulum (ER) has ribosomes adhering to the outer surface; the ribosomes are the site of translation of the mRNA for those proteins which are either to be retained within the cisternae (ER-resident proteins), the proteins of the lysosomes, or the proteins destined for export from the cell. Glycoproteins undergo their initial glycosylation within the cisternae." [ISBN:0198506732] synonym: "RER" EXACT [] synonym: "rough ER" EXACT [] xref: NIF_Subcellular:sao1881364067 xref: Wikipedia:Endoplasmic_reticulum#Rough_endoplasmic_reticulum is_a: GO:0005783 ! endoplasmic reticulum [Term] id: GO:0005794 name: Golgi apparatus namespace: cellular_component def: "A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways." [ISBN:0198506732] comment: Note that the Golgi apparatus can be located in various places in the cytoplasm. In plants and lower animal cells, the Golgi apparatus exists as many copies of discrete stacks dispersed throughout the cytoplasm, while the Golgi apparatus of interphase mammalian cells is a juxtanuclear, often pericentriolar reticulum, where the discrete Golgi stacks are stitched together to form a compact and interconnected ribbon, sometimes called the Golgi ribbon. subset: goslim_agr subset: goslim_candida subset: goslim_chembl subset: goslim_drosophila subset: goslim_generic subset: goslim_mouse subset: goslim_pir subset: goslim_plant subset: goslim_yeast synonym: "Golgi" BROAD [] synonym: "Golgi complex" EXACT [] synonym: "Golgi ribbon" NARROW [] xref: MeSH:D006056 xref: NCIt:C13238 xref: NIF_Subcellular:sao451912436 xref: Wikipedia:Golgi_apparatus is_a: GO:0043231 ! intracellular membrane-bounded organelle relationship: part_of GO:0005737 ! cytoplasm relationship: part_of GO:0012505 ! endomembrane system [Term] id: GO:0005801 name: cis-Golgi network namespace: cellular_component def: "The network of interconnected tubular and cisternal structures located at the convex side of the Golgi apparatus, which abuts the endoplasmic reticulum." [ISBN:0198506732, ISBN:0815316194] comment: The CGN is not considered part of the Golgi apparatus but is a separate organelle. synonym: "cis face" BROAD [NIF_Subcellular:sao632188024] synonym: "cis Golgi network" EXACT [] synonym: "forming face" RELATED [] synonym: "Golgi cis face" RELATED [] synonym: "Golgi cis-face" RELATED [] xref: NIF_Subcellular:sao632188024 is_a: GO:0043231 ! intracellular membrane-bounded organelle relationship: part_of GO:0005794 ! Golgi apparatus [Term] id: GO:0005819 name: spindle namespace: cellular_component def: "The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart." [ISBN:0198547684] xref: Wikipedia:Spindle_apparatus is_a: GO:0043232 ! intracellular non-membrane-bounded organelle relationship: part_of GO:0015630 ! microtubule cytoskeleton [Term] id: GO:0005829 name: cytosol namespace: cellular_component def: "The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes." [GOC:hjd, GOC:jl] subset: goslim_agr subset: goslim_chembl subset: goslim_drosophila subset: goslim_flybase_ribbon subset: goslim_generic subset: goslim_mouse subset: goslim_plant xref: MeSH:D003600 xref: NCIt:C61554 xref: NIF_Subcellular:sao101633890 xref: Wikipedia:Cytosol is_a: GO:0005575 ! cellular_component relationship: part_of GO:0005737 ! cytoplasm [Term] id: GO:0005844 name: polysome namespace: cellular_component def: "A multiribosomal structure representing a linear array of ribosomes held together by messenger RNA. They represent the active complexes in cellular protein synthesis and are able to incorporate amino acids into polypeptides both in vivo and in vitro." [ISBN:0198506732, NIF_Subcellular:sao1038025871] subset: goslim_pir synonym: "polyribosome" EXACT [NIF_Subcellular:sao1038025871] xref: NIF_Subcellular:sao1038025871 xref: Wikipedia:Polysome is_a: GO:0005575 ! cellular_component [Term] id: GO:0005856 name: cytoskeleton namespace: cellular_component def: "A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles." [GOC:mah, PMID:16959967, PMID:27419875] subset: goslim_agr subset: goslim_candida subset: goslim_chembl subset: goslim_drosophila subset: goslim_flybase_ribbon subset: goslim_generic subset: goslim_mouse subset: goslim_pir subset: goslim_plant subset: goslim_yeast subset: prokaryote_subset xref: MeSH:D003599 xref: NCIt:C13227 xref: Wikipedia:Cytoskeleton is_a: GO:0043232 ! intracellular non-membrane-bounded organelle [Term] id: GO:0005886 name: plasma membrane namespace: cellular_component alt_id: GO:0005887 alt_id: GO:0005904 def: "The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins." [ISBN:0716731363] subset: goslim_agr subset: goslim_candida subset: goslim_chembl subset: goslim_drosophila subset: goslim_generic subset: goslim_metagenomics subset: goslim_mouse subset: goslim_plant subset: goslim_yeast subset: prokaryote_subset synonym: "bacterial inner membrane" NARROW [] synonym: "cell membrane" EXACT [] synonym: "cellular membrane" EXACT [NIF_Subcellular:sao6433132645] synonym: "cytoplasmic membrane" EXACT [] synonym: "inner endospore membrane" NARROW [] synonym: "integral component of plasma membrane" NARROW [] synonym: "integral to plasma membrane" NARROW [] synonym: "juxtamembrane" BROAD [] synonym: "plasma membrane lipid bilayer" NARROW [GOC:mah] synonym: "plasmalemma" EXACT [] xref: NCIt:C13735 xref: NIF_Subcellular:sao1663586795 xref: Wikipedia:Cell_membrane is_a: GO:0016020 ! membrane relationship: part_of GO:0071944 ! cell periphery [Term] id: GO:0005929 name: cilium namespace: cellular_component alt_id: GO:0072372 def: "A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body." [GOC:cilia, GOC:curators, GOC:kmv, GOC:vw, ISBN:0198547684, PMID:16824949, PMID:17009929, PMID:20144998] comment: Note that we deem cilium and microtubule-based flagellum to be equivalent. In most eukaryotic species, intracellular sub-components of the cilium, such as the ciliary base and rootlet, are located near the plasma membrane. In Diplomonads such as Giardia, instead, the same ciliary parts are located further intracellularly. Also, 'cilium' may be used when axonemal structure and/or motility are unknown, or when axonemal structure is unusual. For all other cases, please refer to children of 'cilium'. Finally, note that any role of ciliary proteins in sensory events should be captured by annotating to relevant biological process terms. subset: goslim_chembl subset: goslim_drosophila subset: goslim_generic subset: goslim_pir synonym: "eukaryotic flagellum" EXACT [] synonym: "flagellum" RELATED [] synonym: "microtubule-based flagellum" EXACT [] synonym: "primary cilium" NARROW [] xref: FMA:67181 xref: NCIt:C32318 xref: NIF_Subcellular:sao787716553 xref: SNOMEDCT:69315009 xref: Wikipedia:Cilium is_a: GO:0043227 ! membrane-bounded organelle relationship: never_in_taxon NCBITaxon:3176 relationship: never_in_taxon NCBITaxon:3312 relationship: never_in_taxon NCBITaxon:3378 relationship: never_in_taxon NCBITaxon:3398 relationship: never_in_taxon NCBITaxon:4890 ! Ascomycota relationship: never_in_taxon NCBITaxon:5782 [Term] id: GO:0005975 name: carbohydrate metabolic process namespace: biological_process alt_id: GO:0044261 alt_id: GO:0044723 def: "The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y." [GOC:mah, ISBN:0198506732] subset: goslim_agr subset: goslim_candida subset: goslim_chembl subset: goslim_drosophila subset: goslim_generic subset: goslim_metagenomics subset: goslim_pir subset: goslim_plant subset: goslim_pombe subset: goslim_yeast subset: prokaryote_subset synonym: "carbohydrate metabolism" EXACT [] xref: NCIt:C17933 xref: Reactome:REACT_102834 xref: Reactome:REACT_103806 xref: Reactome:REACT_104502 xref: Reactome:REACT_105321 xref: Reactome:REACT_106046 xref: Reactome:REACT_107409 xref: Reactome:REACT_115733 xref: Reactome:REACT_28218 xref: Reactome:REACT_32291 xref: Reactome:REACT_33141 xref: Reactome:REACT_33953 xref: Reactome:REACT_34800 xref: Reactome:REACT_474 xref: Reactome:REACT_77669 xref: Reactome:REACT_81945 xref: Reactome:REACT_83038 xref: Reactome:REACT_83329 xref: Reactome:REACT_88330 xref: Reactome:REACT_88558 xref: Reactome:REACT_90099 xref: Reactome:REACT_96375 xref: Reactome:REACT_98394 xref: Wikipedia:Carbohydrate_metabolism is_a: GO:0044238 ! primary metabolic process is_a: GO:0071704 ! organic substance metabolic process property_value: IAO:0000233 https://github.com/geneontology/go-ontology/issues/22880 xsd:anyURI created_by: jl creation_date: 2012-10-23T15:40:34Z [Term] id: GO:0006139 name: nucleobase-containing compound metabolic process namespace: biological_process alt_id: GO:0055134 def: "Any cellular metabolic process involving nucleobases, nucleosides, nucleotides and nucleic acids." [GOC:ai] subset: goslim_pir subset: goslim_plant synonym: "cellular nucleobase, nucleoside, nucleotide and nucleic acid metabolic process" EXACT [] synonym: "cellular nucleobase, nucleoside, nucleotide and nucleic acid metabolism" EXACT [] synonym: "nucleobase, nucleoside and nucleotide metabolic process" RELATED [] synonym: "nucleobase, nucleoside, nucleotide and nucleic acid metabolic process" RELATED [GOC:dph, GOC:tb] synonym: "nucleobase, nucleoside, nucleotide and nucleic acid metabolism" EXACT [] is_a: GO:0006725 ! cellular aromatic compound metabolic process is_a: GO:0034641 ! cellular nitrogen compound metabolic process is_a: GO:0044238 ! primary metabolic process is_a: GO:0046483 ! heterocycle metabolic process is_a: GO:1901360 ! organic cyclic compound metabolic process [Term] id: GO:0006163 name: purine nucleotide metabolic process namespace: biological_process def: "The chemical reactions and pathways involving a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar." [GOC:go_curators, ISBN:0198506732] synonym: "purine metabolic process" NARROW [] synonym: "purine metabolism" NARROW [] synonym: "purine nucleotide metabolism" EXACT [] is_a: GO:0009117 ! nucleotide metabolic process is_a: GO:0072521 ! purine-containing compound metabolic process [Term] id: GO:0006164 name: purine nucleotide biosynthetic process namespace: biological_process def: "The chemical reactions and pathways resulting in the formation of a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar." [GOC:go_curators, ISBN:0198506732] synonym: "purine nucleotide anabolism" EXACT [] synonym: "purine nucleotide biosynthesis" EXACT [] synonym: "purine nucleotide formation" EXACT [] synonym: "purine nucleotide synthesis" EXACT [] xref: MetaCyc:DENOVOPURINE2-PWY is_a: GO:0006163 ! purine nucleotide metabolic process is_a: GO:0009165 ! nucleotide biosynthetic process is_a: GO:0072522 ! purine-containing compound biosynthetic process [Term] id: GO:0006306 name: DNA methylation namespace: biological_process def: "The covalent transfer of a methyl group to either N-6 of adenine or C-5 or N-4 of cytosine." [GOC:ems, ISBN:0198506732] xref: MeSH:D019175 xref: NCIt:C17961 xref: Wikipedia:DNA_methylation is_a: GO:0006139 ! nucleobase-containing compound metabolic process is_a: GO:0043412 ! macromolecule modification is_a: GO:0044260 ! cellular macromolecule metabolic process relationship: never_in_taxon NCBITaxon:4895 relationship: never_in_taxon NCBITaxon:4930 property_value: gwas:trait "true" xsd:boolean [Term] id: GO:0006486 name: protein glycosylation namespace: biological_process alt_id: GO:0065006 def: "A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins." [GOC:curators, GOC:pr] subset: goslim_generic subset: goslim_pombe subset: goslim_yeast subset: prokaryote_subset synonym: "protein amino acid glycosylation" EXACT [GOC:bf] synonym: "protein-carbohydrate complex assembly" RELATED [] xref: NCIt:C16643 is_a: GO:0036211 ! protein modification process is_a: GO:0043413 ! macromolecule glycosylation relationship: part_of GO:0009101 ! glycoprotein biosynthetic process [Term] id: GO:0006487 name: protein N-linked glycosylation namespace: biological_process def: "A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the N4 atom of peptidyl-asparagine, the omega-N of arginine, or the N1' atom peptidyl-tryptophan." [GOC:pr, RESID:AA0151, RESID:AA0156, RESID:AA0327] synonym: "N-glycan biosynthesis" RELATED [] synonym: "N-glycan metabolism" RELATED [] synonym: "protein amino acid N-linked glycosylation" EXACT [GOC:bf] xref: RESID:AA0151 xref: RESID:AA0156 xref: RESID:AA0327 is_a: GO:0006486 ! protein glycosylation [Term] id: GO:0006629 name: lipid metabolic process namespace: biological_process def: "The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids." [GOC:ma] subset: goslim_agr subset: goslim_candida subset: goslim_chembl subset: goslim_drosophila subset: goslim_generic subset: goslim_metagenomics subset: goslim_mouse subset: goslim_pir subset: goslim_plant subset: goslim_pombe subset: goslim_yeast subset: prokaryote_subset synonym: "lipid metabolism" EXACT [] xref: NCIt:C19405 xref: REACTOME:REACT_104930 xref: Reactome:REACT_104930 xref: REACTOME:REACT_107479 xref: Reactome:REACT_107479 xref: REACTOME:REACT_108775 xref: Reactome:REACT_108775 xref: REACTOME:REACT_114669 xref: Reactome:REACT_114669 xref: REACTOME:REACT_115652 xref: Reactome:REACT_115652 xref: REACTOME:REACT_28745 xref: Reactome:REACT_28745 xref: REACTOME:REACT_31395 xref: Reactome:REACT_31395 xref: REACTOME:REACT_32539 xref: Reactome:REACT_32539 xref: REACTOME:REACT_33836 xref: Reactome:REACT_33836 xref: REACTOME:REACT_602 xref: Reactome:REACT_602 xref: REACTOME:REACT_77176 xref: Reactome:REACT_77176 xref: REACTOME:REACT_77191 xref: Reactome:REACT_77191 xref: REACTOME:REACT_79244 xref: Reactome:REACT_79244 xref: REACTOME:REACT_81778 xref: Reactome:REACT_81778 xref: REACTOME:REACT_82512 xref: Reactome:REACT_82512 xref: REACTOME:REACT_82723 xref: Reactome:REACT_82723 xref: REACTOME:REACT_87884 xref: Reactome:REACT_87884 xref: REACTOME:REACT_90757 xref: Reactome:REACT_90757 xref: REACTOME:REACT_94607 xref: Reactome:REACT_94607 xref: REACTOME:REACT_97906 xref: Reactome:REACT_97906 xref: REACTOME:REACT_98129 xref: Reactome:REACT_98129 xref: REACTOME:REACT_99706 xref: Reactome:REACT_99706 xref: Wikipedia:Lipid_metabolism is_a: GO:0044238 ! primary metabolic process is_a: GO:0071704 ! organic substance metabolic process [Term] id: GO:0006725 name: cellular aromatic compound metabolic process namespace: biological_process def: "The chemical reactions and pathways involving aromatic compounds, any organic compound characterized by one or more planar rings, each of which contains conjugated double bonds and delocalized pi electrons, as carried out by individual cells." [GOC:ai, ISBN:0198506732] subset: goslim_pir synonym: "aromatic compound metabolism" EXACT [] synonym: "aromatic hydrocarbon metabolic process" NARROW [] synonym: "aromatic hydrocarbon metabolism" NARROW [] is_a: GO:0044237 ! cellular metabolic process [Term] id: GO:0006753 name: nucleoside phosphate metabolic process namespace: biological_process def: "The chemical reactions and pathways involving any phosphorylated nucleoside." [GOC:mah] synonym: "nucleoside phosphate metabolism" EXACT [] is_a: GO:0006796 ! phosphate-containing compound metabolic process is_a: GO:0019637 ! organophosphate metabolic process is_a: GO:0055086 ! nucleobase-containing small molecule metabolic process [Term] id: GO:0006754 name: ATP biosynthetic process namespace: biological_process alt_id: GO:0006758 alt_id: GO:0006759 def: "The chemical reactions and pathways resulting in the formation of ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator." [GOC:go_curators, ISBN:0198506732] synonym: "ATP anabolism" EXACT [] synonym: "ATP biosynthesis" EXACT [] synonym: "ATP formation" EXACT [] synonym: "ATP regeneration" NARROW [] synonym: "ATP synthesis" EXACT [] xref: Reactome:REACT_102219 xref: Reactome:REACT_104315 xref: Reactome:REACT_105384 xref: Reactome:REACT_106830 xref: Reactome:REACT_109466 xref: Reactome:REACT_190 xref: Reactome:REACT_28537 xref: Reactome:REACT_31626 xref: Reactome:REACT_33014 xref: Reactome:REACT_78557 xref: Reactome:REACT_86305 xref: Reactome:REACT_88682 xref: Reactome:REACT_90150 xref: Reactome:REACT_92655 xref: Reactome:REACT_96844 xref: Reactome:REACT_991 is_a: GO:0009152 ! purine ribonucleotide biosynthetic process is_a: GO:0009206 ! purine ribonucleoside triphosphate biosynthetic process is_a: GO:0046034 ! ATP metabolic process [Term] id: GO:0006766 name: vitamin metabolic process namespace: biological_process def: "The chemical reactions and pathways involving vitamins. Vitamin is a general term for a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. Vitamins may be water-soluble or fat-soluble and usually serve as components of coenzyme systems." [GOC:ai] subset: goslim_candida subset: goslim_drosophila subset: goslim_generic subset: goslim_pir subset: goslim_pombe subset: goslim_yeast synonym: "vitamin metabolism" EXACT [] xref: Reactome:REACT_101808 xref: Reactome:REACT_101968 xref: Reactome:REACT_102472 xref: Reactome:REACT_103646 xref: Reactome:REACT_104403 xref: Reactome:REACT_105907 xref: Reactome:REACT_106152 xref: Reactome:REACT_108558 xref: Reactome:REACT_110948 xref: Reactome:REACT_11193 xref: Reactome:REACT_13450 xref: Reactome:REACT_30091 xref: Reactome:REACT_31562 xref: Reactome:REACT_33241 xref: Reactome:REACT_33738 xref: Reactome:REACT_34161 xref: Reactome:REACT_34372 xref: Reactome:REACT_36524 xref: Reactome:REACT_78899 xref: Reactome:REACT_79004 xref: Reactome:REACT_80415 xref: Reactome:REACT_81509 xref: Reactome:REACT_82129 xref: Reactome:REACT_82903 xref: Reactome:REACT_83508 xref: Reactome:REACT_84128 xref: Reactome:REACT_87513 xref: Reactome:REACT_88847 xref: Reactome:REACT_88850 xref: Reactome:REACT_90099 xref: Reactome:REACT_96278 xref: Reactome:REACT_96904 xref: Reactome:REACT_97734 xref: Reactome:REACT_97893 is_a: GO:0008152 ! metabolic process [Term] id: GO:0006768 name: biotin metabolic process namespace: biological_process def: "The chemical reactions and pathways involving biotin, cis-tetrahydro-2-oxothieno(3,4-d)imidazoline-4-valeric acid; the (+) enantiomer is very widely distributed in cells and serves as a carrier in a number of enzymatic beta-carboxylation reactions." [ISBN:0198506732] synonym: "biotin metabolism" EXACT [] synonym: "vitamin B7 metabolic process" EXACT [] synonym: "vitamin B7 metabolism" EXACT [] synonym: "vitamin H metabolic process" EXACT [] synonym: "vitamin H metabolism" EXACT [] xref: Wikipedia:Biotin is_a: GO:0006766 ! vitamin metabolic process is_a: GO:0046483 ! heterocycle metabolic process is_a: GO:1901360 ! organic cyclic compound metabolic process is_a: GO:1901564 ! organonitrogen compound metabolic process [Term] id: GO:0006772 name: thiamine metabolic process namespace: biological_process def: "The chemical reactions and pathways involving thiamine (vitamin B1), a water soluble vitamin present in fresh vegetables and meats, especially liver." [GOC:jl, ISBN:0198506732] synonym: "thiamin metabolic process" EXACT [] synonym: "thiamin metabolism" EXACT [] synonym: "thiamine metabolism" EXACT [] synonym: "vitamin B1 metabolic process" EXACT [] synonym: "vitamin B1 metabolism" EXACT [] xref: Wikipedia:Thiamine is_a: GO:0006725 ! cellular aromatic compound metabolic process is_a: GO:0006766 ! vitamin metabolic process is_a: GO:0034641 ! cellular nitrogen compound metabolic process is_a: GO:0046483 ! heterocycle metabolic process is_a: GO:1901360 ! organic cyclic compound metabolic process is_a: GO:1901564 ! organonitrogen compound metabolic process [Term] id: GO:0006776 name: vitamin A metabolic process namespace: biological_process def: "The chemical reactions and pathways involving any of the vitamin A compounds, retinol, retinal (retinaldehyde) and retinoic acid, all of which are derivatives of beta-carotene." [GOC:jl, http://www.dentistry.leeds.ac.uk/biochem/thcme/vitamins.html#k] synonym: "vitamin A metabolism" EXACT [] is_a: GO:0006629 ! lipid metabolic process is_a: GO:0006766 ! vitamin metabolic process is_a: GO:0044237 ! cellular metabolic process [Term] id: GO:0006793 name: phosphorus metabolic process namespace: biological_process def: "The chemical reactions and pathways involving the nonmetallic element phosphorus or compounds that contain phosphorus, usually in the form of a phosphate group (PO4)." [GOC:ai] subset: goslim_pir synonym: "phosphorus metabolism" EXACT [] is_a: GO:0044237 ! cellular metabolic process [Term] id: GO:0006796 name: phosphate-containing compound metabolic process namespace: biological_process def: "The chemical reactions and pathways involving the phosphate group, the anion or salt of any phosphoric acid." [GOC:ai] synonym: "phosphate metabolic process" RELATED [] synonym: "phosphate metabolism" EXACT [] is_a: GO:0006793 ! phosphorus metabolic process [Term] id: GO:0006807 name: nitrogen compound metabolic process namespace: biological_process def: "The chemical reactions and pathways involving organic or inorganic compounds that contain nitrogen." [GOC:jl, ISBN:0198506732] subset: goslim_metagenomics subset: goslim_pir synonym: "nitrogen compound metabolism" EXACT [] is_a: GO:0008152 ! metabolic process [Term] id: GO:0006810 name: transport namespace: biological_process alt_id: GO:0015457 alt_id: GO:0015460 alt_id: GO:0044765 def: "The directed movement of substances (such as macromolecules, small molecules, ions) or cellular components (such as complexes and organelles) into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter or a transporter complex, a pore or a motor protein." [GOC:dos, GOC:dph, GOC:jl, GOC:mah] comment: Note that this term should not be used for direct annotation. It should be possible to make a more specific annotation to one of the children of this term, for e.g. to transmembrane transport, to microtubule-based transport or to vesicle-mediated transport. subset: gocheck_do_not_annotate subset: goslim_candida subset: goslim_chembl subset: goslim_metagenomics subset: goslim_pir subset: goslim_plant subset: prokaryote_subset synonym: "single-organism transport" RELATED [] xref: SNOMEDCT:360300001 is_a: GO:0051234 ! establishment of localization property_value: IAO:0000233 https://github.com/geneontology/go-ontology/issues/20292 xsd:anyURI created_by: jl creation_date: 2012-12-13T16:25:32Z [Term] id: GO:0006915 name: apoptotic process namespace: biological_process alt_id: GO:0006917 alt_id: GO:0008632 def: "A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died." [GOC:cjm, GOC:dhl, GOC:ecd, GOC:go_curators, GOC:mtg_apoptosis, GOC:tb, ISBN:0198506732, PMID:18846107, PMID:21494263] synonym: "activation of apoptosis" NARROW [] synonym: "apoptosis" NARROW [] synonym: "apoptosis activator activity" RELATED [] synonym: "apoptosis signaling" NARROW [] synonym: "apoptotic cell death" EXACT [GOC:sl] synonym: "apoptotic program" NARROW [GOC:add] synonym: "apoptotic programmed cell death" EXACT [] synonym: "caspase-dependent programmed cell death" RELATED [] synonym: "cell suicide" BROAD [] synonym: "cellular suicide" BROAD [] synonym: "commitment to apoptosis" RELATED [] synonym: "induction of apoptosis" RELATED [] synonym: "induction of apoptosis by p53" RELATED [] synonym: "programmed cell death by apoptosis" EXACT [] synonym: "signaling (initiator) caspase activity" RELATED [] synonym: "type I programmed cell death" NARROW [] xref: Wikipedia:Apoptosis is_a: GO:0008219 ! cell death relationship: never_in_taxon NCBITaxon:2 ! Bacteria relationship: never_in_taxon NCBITaxon:4896 ! Schizosaccharomyces pombe [Term] id: GO:0006937 name: regulation of muscle contraction namespace: biological_process def: "Any process that modulates the frequency, rate or extent of muscle contraction." [GOC:go_curators] is_a: GO:0090257 ! regulation of muscle system process [Term] id: GO:0006939 name: smooth muscle contraction namespace: biological_process def: "A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. Smooth muscle differs from striated muscle in the much higher actin/myosin ratio, the absence of conspicuous sarcomeres and the ability to contract to a much smaller fraction of its resting length." [GOC:ef, GOC:jl, GOC:mtg_muscle, ISBN:0198506732] synonym: "visceral muscle contraction" EXACT [] is_a: GO:0003012 ! muscle system process [Term] id: GO:0006950 name: response to stress namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation)." [GOC:mah] comment: Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_manually_annotate subset: goslim_candida subset: goslim_chembl subset: goslim_drosophila subset: goslim_metagenomics subset: goslim_plant synonym: "response to abiotic stress" RELATED [] synonym: "response to biotic stress" RELATED [] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean [Term] id: GO:0006954 name: inflammatory response namespace: biological_process def: "The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages." [GO_REF:0000022, ISBN:0198506732] subset: goslim_generic synonym: "inflammation" BROAD [] xref: MeSH:D007249 xref: NCIt:C20151 xref: SNOMEDCT:23583003 xref: SNOMEDCT:257552002 xref: Wikipedia:Inflammation is_a: GO:0006950 ! response to stress property_value: gwas:trait "true" xsd:boolean [Term] id: GO:0006970 name: response to osmotic stress namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating an increase or decrease in the concentration of solutes outside the organism or cell." [GOC:jl] subset: goslim_yeast synonym: "osmotic response" EXACT [] synonym: "osmotic stress response" EXACT [] is_a: GO:0006950 ! response to stress is_a: GO:0009628 ! response to abiotic stimulus [Term] id: GO:0006996 name: organelle organization namespace: biological_process alt_id: GO:1902589 def: "A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an organelle within a cell. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane." [GOC:mah] subset: goslim_candida subset: goslim_pir synonym: "organelle organisation" EXACT [] synonym: "organelle organization and biogenesis" RELATED [GOC:dph, GOC:jl, GOC:mah] synonym: "single organism organelle organization" EXACT [GOC:TermGenie] synonym: "single-organism organelle organization" RELATED [] is_a: GO:0016043 ! cellular component organization created_by: jl creation_date: 2013-12-19T15:25:51Z [Term] id: GO:0007049 name: cell cycle namespace: biological_process def: "The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division." [GOC:go_curators, GOC:mtg_cell_cycle] subset: gocheck_do_not_manually_annotate subset: goslim_agr subset: goslim_candida subset: goslim_chembl subset: goslim_flybase_ribbon subset: goslim_pir subset: goslim_plant synonym: "cell-division cycle" EXACT [] xref: MeSH:D002453 xref: Wikipedia:Cell_cycle is_a: GO:0009987 ! cellular process [Term] id: GO:0007051 name: spindle organization namespace: biological_process alt_id: GO:0043146 def: "A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the spindle, the array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during DNA segregation and serves to move the duplicated chromosomes apart." [GOC:go_curators, GOC:mah] synonym: "spindle organisation" EXACT [] synonym: "spindle organization and biogenesis" RELATED [GOC:mah] synonym: "spindle stabilization" RELATED [] is_a: GO:0000226 ! microtubule cytoskeleton organization is_a: GO:0022402 ! cell cycle process [Term] id: GO:0007052 name: mitotic spindle organization namespace: biological_process alt_id: GO:0000071 alt_id: GO:0030472 alt_id: GO:0043148 def: "A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the microtubule spindle during a mitotic cell cycle." [GOC:go_curators, GOC:mah] comment: In fission yeast most mitotic spindle organization occurs in the nucleus. synonym: "mitotic spindle organisation" EXACT [] synonym: "mitotic spindle organisation in nucleus" NARROW [] synonym: "mitotic spindle organization and biogenesis" RELATED [GOC:mah] synonym: "mitotic spindle organization and biogenesis in cell nucleus" NARROW [] synonym: "mitotic spindle organization and biogenesis in nucleus" NARROW [] synonym: "mitotic spindle organization in nucleus" NARROW [] synonym: "mitotic spindle stabilization" RELATED [] synonym: "spindle organization and biogenesis during mitosis" EXACT [] synonym: "spindle organization and biogenesis in nucleus during mitosis" NARROW [] is_a: GO:0007051 ! spindle organization intersection_of: GO:0007051 ! spindle organization intersection_of: part_of GO:0000278 ! mitotic cell cycle relationship: part_of GO:0000278 ! mitotic cell cycle property_value: IAO:0000233 https://github.com/geneontology/go-ontology/issues/15341 xsd:anyURI [Term] id: GO:0007088 name: regulation of mitotic nuclear division namespace: biological_process def: "Any process that modulates the frequency, rate or extent of mitosis." [GOC:go_curators] synonym: "regulation of mitosis" EXACT [] is_a: GO:0051726 ! regulation of cell cycle [Term] id: GO:0007154 name: cell communication namespace: biological_process def: "Any process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment." [GOC:mah] subset: goslim_pir subset: goslim_plant xref: MeSH:D002450 xref: Wikipedia:Cell_signaling is_a: GO:0009987 ! cellular process [Term] id: GO:0007165 name: signal transduction namespace: biological_process alt_id: GO:0023014 alt_id: GO:0023015 alt_id: GO:0023016 alt_id: GO:0023033 alt_id: GO:0023045 def: "The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell." [GOC:go_curators, GOC:mtg_signaling_feb11] comment: Note that signal transduction is defined broadly to include a ligand interacting with a receptor, downstream signaling steps and a response being triggered. A change in form of the signal in every step is not necessary. Note that in many cases the end of this process is regulation of the initiation of transcription. Note that specific transcription factors may be annotated to this term, but core/general transcription machinery such as RNA polymerase should not. subset: goslim_candida subset: goslim_chembl subset: goslim_metagenomics subset: goslim_plant synonym: "signal transduction by cis-phosphorylation" NARROW [] synonym: "signal transduction by conformational transition" NARROW [] synonym: "signal transduction by protein phosphorylation" NARROW [] synonym: "signal transduction by trans-phosphorylation" NARROW [] synonym: "signaling cascade" NARROW [] synonym: "signaling pathway" RELATED [] synonym: "signalling cascade" NARROW [] synonym: "signalling pathway" RELATED [GOC:mah] xref: MeSH:D015398 xref: NCIt:C17133 xref: Reactome:REACT_100624 xref: Reactome:REACT_102354 xref: Reactome:REACT_112130 xref: Reactome:REACT_112549 xref: Reactome:REACT_113151 xref: Reactome:REACT_113601 xref: Reactome:REACT_113964 xref: Reactome:REACT_114657 xref: Reactome:REACT_114690 xref: Reactome:REACT_114820 xref: Reactome:REACT_114910 xref: Reactome:REACT_115037 xref: Reactome:REACT_115147 xref: Reactome:REACT_12478 xref: Reactome:REACT_31232 xref: Reactome:REACT_78535 xref: Reactome:REACT_89740 xref: Reactome:REACT_93680 xref: Reactome:REACT_98872 xref: SNOMEDCT:38952000 xref: Wikipedia:Signal_transduction is_a: GO:0009987 ! cellular process is_a: GO:0050794 ! regulation of cellular process relationship: part_of GO:0007154 ! cell communication relationship: part_of GO:0051716 ! cellular response to stimulus [Term] id: GO:0007417 name: central nervous system development namespace: biological_process def: "The process whose specific outcome is the progression of the central nervous system over time, from its formation to the mature structure. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain and spinal cord. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord." [GOC:bf, GOC:jid, ISBN:0582227089] synonym: "CNS development" EXACT [] xref: Wikipedia:Neural_development is_a: GO:0048731 ! system development [Term] id: GO:0007420 name: brain development namespace: biological_process def: "The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.)." [GOC:dph, GOC:jid, GOC:tb, UBERON:0000955] is_a: GO:0048513 ! animal organ development relationship: part_of GO:0007417 ! central nervous system development [Term] id: GO:0007568 name: aging namespace: biological_process alt_id: GO:0016280 def: "A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700)." [GOC:PO_curators] subset: goslim_chembl subset: goslim_drosophila subset: goslim_generic synonym: "ageing" EXACT [] xref: MeSH:D000375 xref: NCIt:C16269 xref: OMIM:502000 xref: SNOMEDCT:248280005 xref: Wikipedia:Aging is_a: GO:0032502 ! developmental process property_value: gwas:trait "true" xsd:boolean [Term] id: GO:0007586 name: digestion namespace: biological_process def: "The whole of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism." [GOC:isa_complete, ISBN:0198506732] subset: goslim_chembl subset: goslim_pir xref: Wikipedia:Digestion is_a: GO:0032501 ! multicellular organismal process [Term] id: GO:0007588 name: excretion namespace: biological_process def: "The elimination by an organism of the waste products that arise as a result of metabolic activity. These products include water, carbon dioxide (CO2), and nitrogenous compounds." [ISBN:0192801023] subset: gocheck_do_not_annotate subset: goslim_pir xref: NCIt:C94618 xref: Wikipedia:Excretion is_a: GO:0003008 ! system process property_value: IAO:0000233 https://github.com/geneontology/go-ontology/issues/22368 xsd:anyURI [Term] id: GO:0007596 name: blood coagulation namespace: biological_process def: "The sequential process in which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers." [http://www.graylab.ac.uk/omd/, ISBN:0198506732] synonym: "blood clotting" EXACT [] xref: MeSH:D001777 xref: Wikipedia:Coagulation is_a: GO:0032501 ! multicellular organismal process relationship: part_of GO:0042060 ! wound healing [Term] id: GO:0007600 name: sensory perception namespace: biological_process def: "The series of events required for an organism to receive a sensory stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process." [GOC:ai, GOC:dph] subset: goslim_drosophila xref: GO:0007600 xref: MeSH:D012677 xref: SNOMEDCT:373713005 xref: Wikipedia:Perception is_a: GO:0003008 ! system process [Term] id: GO:0007601 name: visual perception namespace: biological_process def: "The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image." [GOC:ai] synonym: "sense of sight" EXACT [] synonym: "sensory visual perception" EXACT [] synonym: "vision" EXACT [] xref: MeSH:D014796 xref: NCIt:C17257 xref: SNOMEDCT:311886005 xref: Wikipedia:Visual_perception is_a: GO:0007600 ! sensory perception [Term] id: GO:0007605 name: sensory perception of sound namespace: biological_process def: "The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound." [GOC:ai] synonym: "hearing" EXACT [] synonym: "perception of sound" EXACT [] xref: Wikipedia:Hearing_(sense) is_a: GO:0007600 ! sensory perception property_value: gwas:trait "true" xsd:boolean [Term] id: GO:0007608 name: sensory perception of smell namespace: biological_process def: "The series of events required for an organism to receive an olfactory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Olfaction involves the detection of chemical composition of an organism's ambient medium by chemoreceptors. This is a neurological process." [GOC:ai] synonym: "olfaction" EXACT [] synonym: "scent perception" EXACT [] synonym: "sense of smell" EXACT [] synonym: "smell perception" EXACT [] xref: Wikipedia:Olfaction is_a: GO:0007600 ! sensory perception property_value: gwas:trait "true" xsd:boolean [Term] id: GO:0007610 name: behavior namespace: biological_process alt_id: GO:0023032 alt_id: GO:0044708 alt_id: GO:0044709 def: "The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity." [GOC:ems, GOC:jl, ISBN:0395448956, PMID:20160973] comment: 1. Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation reviews.\n2. While a broader definition of behavior encompassing plants and single cell organisms would be justified on the basis of some usage (see PMID:20160973 for discussion), GO uses a tight definition that limits behavior to animals and to responses involving the nervous system, excluding plant responses that GO classifies under development, and responses of unicellular organisms that has general classifications for covering the responses of cells in multicellular organisms (e.g. cell chemotaxis). subset: gocheck_do_not_manually_annotate subset: goslim_agr subset: goslim_flybase_ribbon synonym: "behavioral response to stimulus" EXACT [] synonym: "behaviour" EXACT [] synonym: "behavioural response to stimulus" EXACT [] synonym: "single-organism behavior" RELATED [] xref: GO:0007610 xref: MeSH:D001519 xref: NCIt:C16326 xref: Wikipedia:Behavior is_a: GO:0032501 ! multicellular organismal process disjoint_from: GO:0032502 ! developmental process property_value: gwas:trait "true" xsd:boolean created_by: jl creation_date: 2012-09-20T14:06:08Z [Term] id: GO:0008016 name: regulation of heart contraction namespace: biological_process def: "Any process that modulates the frequency, rate or extent of heart contraction. Heart contraction is the process in which the heart decreases in volume in a characteristic way to propel blood through the body." [GOC:dph, GOC:go_curators, GOC:tb] synonym: "regulation of cardiac contraction" EXACT [] is_a: GO:0044057 ! regulation of system process [Term] id: GO:0008104 name: protein localization namespace: biological_process alt_id: GO:0008105 alt_id: GO:0016249 alt_id: GO:0034613 def: "Any process in which a protein is transported to, or maintained in, a specific location." [GOC:ai] subset: goslim_drosophila synonym: "asymmetric protein localisation" RELATED [GOC:mah] synonym: "asymmetric protein localization" RELATED [] synonym: "cellular protein localisation" EXACT [GOC:mah] synonym: "cellular protein localization" EXACT [] synonym: "channel localizer activity" NARROW [GOC:mah] synonym: "establishment and maintenance of asymmetric protein localization" RELATED [] synonym: "establishment and maintenance of protein localization" RELATED [] synonym: "protein localisation" EXACT [GOC:mah] is_a: GO:0051641 ! cellular localization property_value: IAO:0000233 https://github.com/geneontology/go-ontology/issues/23112 xsd:anyURI [Term] id: GO:0008150 name: biological_process namespace: biological_process alt_id: GO:0000004 alt_id: GO:0007582 alt_id: GO:0044699 def: "A biological process represents a specific objective that the organism is genetically programmed to achieve. Biological processes are often described by their outcome or ending state, e.g., the biological process of cell division results in the creation of two daughter cells (a divided cell) from a single parent cell. A biological process is accomplished by a particular set of molecular functions carried out by specific gene products (or macromolecular complexes), often in a highly regulated manner and in a particular temporal sequence." [GOC:pdt] comment: Note that, in addition to forming the root of the biological process ontology, this term is recommended for use for the annotation of gene products whose biological process is unknown. When this term is used for annotation, it indicates that no information was available about the biological process of the gene product annotated as of the date the annotation was made; the evidence code 'no data' (ND), is used to indicate this. subset: goslim_candida subset: goslim_chembl subset: goslim_metagenomics subset: goslim_pir subset: goslim_plant subset: goslim_pombe subset: goslim_yeast synonym: "biological process" EXACT [] synonym: "physiological process" EXACT [] synonym: "single organism process" RELATED [] synonym: "single-organism process" RELATED [] xref: GO:0008150 xref: MeSH:D055705 xref: NCIt:C17828 xref: Wikipedia:Biological_process is_a: BFO:0000015 ! process created_by: jl creation_date: 2012-09-19T15:05:24Z [Term] id: GO:0008152 name: metabolic process namespace: biological_process alt_id: GO:0044236 alt_id: GO:0044710 def: "The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation." [GOC:go_curators, ISBN:0198547684] comment: Note that metabolic processes do not include single functions or processes such as protein-protein interactions, protein-nucleic acids, nor receptor-ligand interactions. subset: gocheck_do_not_manually_annotate subset: goslim_chembl subset: goslim_metagenomics subset: goslim_pir subset: goslim_plant synonym: "metabolic process resulting in cell growth" NARROW [] synonym: "metabolism" EXACT [] synonym: "metabolism resulting in cell growth" NARROW [] synonym: "multicellular organism metabolic process" NARROW [] synonym: "single-organism metabolic process" RELATED [] xref: GO:0008152 xref: MeSH:D008660 xref: MeSH:Q000378 xref: NCIt:C19536 xref: Wikipedia:Metabolism is_a: GO:0008150 ! biological_process created_by: jl creation_date: 2012-10-17T15:46:40Z [Term] id: GO:0008202 name: steroid metabolic process namespace: biological_process def: "The chemical reactions and pathways involving steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus." [ISBN:0198547684] synonym: "steroid metabolism" EXACT [] xref: Wikipedia:Steroid_metabolism is_a: GO:0006629 ! lipid metabolic process is_a: GO:1901360 ! organic cyclic compound metabolic process [Term] id: GO:0008219 name: cell death namespace: biological_process def: "Any biological process that results in permanent cessation of all vital functions of a cell. A cell should be considered dead when any one of the following molecular or morphological criteria is met: (1) the cell has lost the integrity of its plasma membrane; (2) the cell, including its nucleus, has undergone complete fragmentation into discrete bodies (frequently referred to as apoptotic bodies). The cell corpse (or its fragments) may be engulfed by an adjacent cell in vivo, but engulfment of whole cells should not be considered a strict criteria to define cell death as, under some circumstances, live engulfed cells can be released from phagosomes (see PMID:18045538)." [GOC:mah, GOC:mtg_apoptosis, PMID:25236395] comment: This term should not be used for direct annotation. The only exception should be when experimental data (e.g., staining with trypan blue or propidium iodide) show that cell death has occurred, but fail to provide details on death modality (accidental versus programmed). When information is provided on the cell death mechanism, annotations should be made to the appropriate descendant of 'cell death' (such as, but not limited to, GO:0097300 'programmed necrotic cell death' or GO:0006915 'apoptotic process'). Also, if experimental data suggest that a gene product influences cell death indirectly, rather than being involved in the death process directly, consider annotating to a 'regulation' term. subset: goslim_agr subset: goslim_chembl subset: goslim_drosophila subset: goslim_mouse subset: goslim_plant synonym: "accidental cell death" RELATED [] synonym: "necrosis" RELATED [] xref: MeSH:D016923 is_a: GO:0009987 ! cellular process [Term] id: GO:0008283 name: cell population proliferation namespace: biological_process def: "The multiplication or reproduction of cells, resulting in the expansion of a cell population." [GOC:mah, GOC:mb] comment: This term was moved out from being a child of 'cellular process' because it is a cell population-level process, and cellular processes are restricted to those processes that involve individual cells. Also note that this term is intended to be used for the proliferation of cells within a multicellular organism, not for the expansion of a population of single-celled organisms. subset: goslim_agr subset: goslim_chembl subset: goslim_drosophila subset: goslim_flybase_ribbon subset: goslim_mouse subset: goslim_pir synonym: "cell proliferation" RELATED [] xref: GO:0008283 xref: MeSH:D049109 xref: NCIt:C18081 is_a: GO:0009987 ! cellular process relationship: never_in_taxon NCBITaxon:4751 ! Fungi [Term] id: GO:0008517 name: folic acid transmembrane transporter activity namespace: molecular_function def: "Enables the transfer of folic acid (pteroylglutamic acid) from one side of a membrane to the other. Folic acid is widely distributed as a member of the vitamin B complex and is essential for the synthesis of purine and pyrimidines." [GOC:ai] synonym: "folate transmembrane transporter activity" EXACT [] synonym: "folate transporter activity" EXACT [] synonym: "folic acid transporter activity" RELATED [] synonym: "vitamin B9 transporter activity" EXACT [] synonym: "vitamin M transporter activity" EXACT [] xref: Reactome:R-HSA-200646 "Cytosolic folate export across the plasma membrane" xref: Reactome:R-HSA-200652 "Extracellular 5-methyltetrahydrofolate import across the plasma membrane" xref: Reactome:R-HSA-200680 "Cytosolic tetrahydrofolate import across the inner mitochondrial membrane" xref: Reactome:R-HSA-200720 "Mitochondrial tetrahydrofolate export across the inner mitochondrial membrane" xref: Reactome:R-HSA-200729 "Extracellular folate import across the plasma membrane" xref: Reactome:REACT_100092 xref: Reactome:REACT_100792 xref: Reactome:REACT_102235 xref: Reactome:REACT_102653 xref: Reactome:REACT_103611 xref: Reactome:REACT_103690 xref: Reactome:REACT_104433 xref: Reactome:REACT_104504 xref: Reactome:REACT_105209 xref: Reactome:REACT_106879 xref: Reactome:REACT_107678 xref: Reactome:REACT_107760 xref: Reactome:REACT_108108 xref: Reactome:REACT_109612 xref: Reactome:REACT_109974 xref: Reactome:REACT_110246 xref: Reactome:REACT_110784 xref: Reactome:REACT_110795 xref: Reactome:REACT_11104 xref: Reactome:REACT_11143 xref: Reactome:REACT_11162 xref: Reactome:REACT_11190 xref: Reactome:REACT_11219 xref: Reactome:REACT_28049 xref: Reactome:REACT_28889 xref: Reactome:REACT_29114 xref: Reactome:REACT_29378 xref: Reactome:REACT_29626 xref: Reactome:REACT_30305 xref: Reactome:REACT_30524 xref: Reactome:REACT_30963 xref: Reactome:REACT_31808 xref: Reactome:REACT_31906 xref: Reactome:REACT_32349 xref: Reactome:REACT_32790 xref: Reactome:REACT_33252 xref: Reactome:REACT_33312 xref: Reactome:REACT_33623 xref: Reactome:REACT_77168 xref: Reactome:REACT_79209 xref: Reactome:REACT_80608 xref: Reactome:REACT_81227 xref: Reactome:REACT_81287 xref: Reactome:REACT_83039 xref: Reactome:REACT_83176 xref: Reactome:REACT_83346 xref: Reactome:REACT_83401 xref: Reactome:REACT_84236 xref: Reactome:REACT_84854 xref: Reactome:REACT_85392 xref: Reactome:REACT_86460 xref: Reactome:REACT_87620 xref: Reactome:REACT_88323 xref: Reactome:REACT_88962 xref: Reactome:REACT_89284 xref: Reactome:REACT_90158 xref: Reactome:REACT_90549 xref: Reactome:REACT_90989 xref: Reactome:REACT_91248 xref: Reactome:REACT_92306 xref: Reactome:REACT_92328 xref: Reactome:REACT_94465 xref: Reactome:REACT_96149 xref: Reactome:REACT_98444 is_a: GO:0003674 ! molecular_function relationship: part_of GO:0015884 ! folic acid transport [Term] id: GO:0009058 name: biosynthetic process namespace: biological_process alt_id: GO:0044274 alt_id: GO:0044711 def: "The chemical reactions and pathways resulting in the formation of substances; typically the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones." [GOC:curators, ISBN:0198547684] subset: goslim_chembl subset: goslim_metagenomics subset: goslim_plant synonym: "anabolism" EXACT [] synonym: "biosynthesis" EXACT [] synonym: "formation" BROAD [] synonym: "multicellular organismal biosynthetic process" NARROW [] synonym: "single-organism biosynthetic process" RELATED [] synonym: "synthesis" EXACT [] xref: Wikipedia:Anabolism is_a: GO:0008152 ! metabolic process created_by: jl creation_date: 2012-10-17T15:52:18Z [Term] id: GO:0009101 name: glycoprotein biosynthetic process namespace: biological_process def: "The chemical reactions and pathways resulting in the formation of glycoproteins, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide." [GOC:go_curators, ISBN:0198506732] synonym: "glycoprotein anabolism" EXACT [] synonym: "glycoprotein biosynthesis" EXACT [] synonym: "glycoprotein formation" EXACT [] synonym: "glycoprotein synthesis" EXACT [] is_a: GO:0019538 ! protein metabolic process is_a: GO:0044249 ! cellular biosynthetic process is_a: GO:0044260 ! cellular macromolecule metabolic process is_a: GO:1901137 ! carbohydrate derivative biosynthetic process is_a: GO:1901566 ! organonitrogen compound biosynthetic process [Term] id: GO:0009116 name: nucleoside metabolic process namespace: biological_process def: "The chemical reactions and pathways involving a nucleoside, a nucleobase linked to either beta-D-ribofuranose (a ribonucleoside) or 2-deoxy-beta-D-ribofuranose, (a deoxyribonucleoside), e.g. adenosine, guanosine, inosine, cytidine, uridine and deoxyadenosine, deoxyguanosine, deoxycytidine and thymidine (= deoxythymidine)." [GOC:ma] subset: goslim_pir synonym: "nucleoside metabolism" EXACT [] is_a: GO:0055086 ! nucleobase-containing small molecule metabolic process is_a: GO:1901564 ! organonitrogen compound metabolic process is_a: GO:1901657 ! glycosyl compound metabolic process [Term] id: GO:0009117 name: nucleotide metabolic process namespace: biological_process def: "The chemical reactions and pathways involving a nucleotide, a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic nucleotides (nucleoside cyclic phosphates)." [GOC:ma] subset: goslim_pir synonym: "nucleotide metabolism" EXACT [] is_a: GO:0006753 ! nucleoside phosphate metabolic process [Term] id: GO:0009119 name: ribonucleoside metabolic process namespace: biological_process def: "The chemical reactions and pathways involving any ribonucleoside, a nucleoside in which purine or pyrimidine base is linked to a ribose (beta-D-ribofuranose) molecule." [GOC:jl] synonym: "ribonucleoside metabolism" EXACT [] is_a: GO:0009116 ! nucleoside metabolic process [Term] id: GO:0009123 name: nucleoside monophosphate metabolic process namespace: biological_process def: "The chemical reactions and pathways involving a nucleoside monophosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with phosphate on the sugar." [GOC:go_curators, ISBN:0198506732] synonym: "nucleoside monophosphate metabolism" EXACT [] is_a: GO:0006753 ! nucleoside phosphate metabolic process [Term] id: GO:0009124 name: nucleoside monophosphate biosynthetic process namespace: biological_process def: "The chemical reactions and pathways resulting in the formation of a nucleoside monophosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with phosphate on the sugar." [GOC:go_curators, ISBN:0198506732] synonym: "nucleoside monophosphate anabolism" EXACT [] synonym: "nucleoside monophosphate biosynthesis" EXACT [] synonym: "nucleoside monophosphate formation" EXACT [] synonym: "nucleoside monophosphate synthesis" EXACT [] is_a: GO:0009123 ! nucleoside monophosphate metabolic process is_a: GO:1901293 ! nucleoside phosphate biosynthetic process [Term] id: GO:0009126 name: purine nucleoside monophosphate metabolic process namespace: biological_process def: "The chemical reactions and pathways involving purine nucleoside monophosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with phosphate on the sugar." [GOC:go_curators, ISBN:0198506732] synonym: "purine nucleoside monophosphate metabolism" EXACT [] is_a: GO:0009123 ! nucleoside monophosphate metabolic process [Term] id: GO:0009127 name: purine nucleoside monophosphate biosynthetic process namespace: biological_process def: "The chemical reactions and pathways resulting in the formation of purine nucleoside monophosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with phosphate on the sugar." [GOC:go_curators, ISBN:0198506732] synonym: "purine nucleoside monophosphate anabolism" EXACT [] synonym: "purine nucleoside monophosphate biosynthesis" EXACT [] synonym: "purine nucleoside monophosphate formation" EXACT [] synonym: "purine nucleoside monophosphate synthesis" EXACT [] is_a: GO:0009124 ! nucleoside monophosphate biosynthetic process is_a: GO:0009126 ! purine nucleoside monophosphate metabolic process [Term] id: GO:0009141 name: nucleoside triphosphate metabolic process namespace: biological_process def: "The chemical reactions and pathways involving a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar." [GOC:go_curators, ISBN:0198506732] synonym: "nucleoside triphosphate metabolism" EXACT [] is_a: GO:0006753 ! nucleoside phosphate metabolic process [Term] id: GO:0009142 name: nucleoside triphosphate biosynthetic process namespace: biological_process def: "The chemical reactions and pathways resulting in the formation of a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar." [GOC:go_curators, ISBN:0198506732] synonym: "nucleoside triphosphate anabolism" EXACT [] synonym: "nucleoside triphosphate biosynthesis" EXACT [] synonym: "nucleoside triphosphate formation" EXACT [] synonym: "nucleoside triphosphate synthesis" EXACT [] is_a: GO:0009141 ! nucleoside triphosphate metabolic process is_a: GO:1901293 ! nucleoside phosphate biosynthetic process [Term] id: GO:0009144 name: purine nucleoside triphosphate metabolic process namespace: biological_process def: "The chemical reactions and pathways involving purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar." [GOC:go_curators, ISBN:0198506732] synonym: "purine nucleoside triphosphate metabolism" EXACT [] is_a: GO:0009141 ! nucleoside triphosphate metabolic process [Term] id: GO:0009145 name: purine nucleoside triphosphate biosynthetic process namespace: biological_process def: "The chemical reactions and pathways resulting in the formation of purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar." [GOC:go_curators, ISBN:0198506732] synonym: "purine nucleoside triphosphate anabolism" EXACT [] synonym: "purine nucleoside triphosphate biosynthesis" EXACT [] synonym: "purine nucleoside triphosphate formation" EXACT [] synonym: "purine nucleoside triphosphate synthesis" EXACT [] is_a: GO:0009142 ! nucleoside triphosphate biosynthetic process is_a: GO:0009144 ! purine nucleoside triphosphate metabolic process [Term] id: GO:0009150 name: purine ribonucleotide metabolic process namespace: biological_process def: "The chemical reactions and pathways involving a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar." [GOC:go_curators, ISBN:0198506732] synonym: "purine ribonucleotide metabolism" EXACT [] is_a: GO:0006163 ! purine nucleotide metabolic process is_a: GO:0009259 ! ribonucleotide metabolic process [Term] id: GO:0009152 name: purine ribonucleotide biosynthetic process namespace: biological_process def: "The chemical reactions and pathways resulting in the formation of a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar." [GOC:go_curators, ISBN:0198506732] synonym: "purine ribonucleotide anabolism" EXACT [] synonym: "purine ribonucleotide biosynthesis" EXACT [] synonym: "purine ribonucleotide formation" EXACT [] synonym: "purine ribonucleotide synthesis" EXACT [] is_a: GO:0006164 ! purine nucleotide biosynthetic process is_a: GO:0009150 ! purine ribonucleotide metabolic process is_a: GO:0009260 ! ribonucleotide biosynthetic process [Term] id: GO:0009156 name: ribonucleoside monophosphate biosynthetic process namespace: biological_process def: "The chemical reactions and pathways resulting in the formation of a ribonucleoside monophosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with phosphate on the sugar." [GOC:go_curators, ISBN:0198506732] synonym: "ribonucleoside monophosphate anabolism" EXACT [] synonym: "ribonucleoside monophosphate biosynthesis" EXACT [] synonym: "ribonucleoside monophosphate formation" EXACT [] synonym: "ribonucleoside monophosphate synthesis" EXACT [] is_a: GO:0009124 ! nucleoside monophosphate biosynthetic process is_a: GO:0009161 ! ribonucleoside monophosphate metabolic process [Term] id: GO:0009161 name: ribonucleoside monophosphate metabolic process namespace: biological_process def: "The chemical reactions and pathways involving a ribonucleoside monophosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with phosphate on the sugar." [GOC:go_curators, ISBN:0198506732] synonym: "ribonucleoside monophosphate metabolism" EXACT [] is_a: GO:0009123 ! nucleoside monophosphate metabolic process [Term] id: GO:0009163 name: nucleoside biosynthetic process namespace: biological_process def: "The chemical reactions and pathways resulting in the formation of any one of a family of organic molecules consisting of a purine or pyrimidine base covalently bonded to a sugar ribose (a ribonucleoside) or deoxyribose (a deoxyribonucleoside)." [GOC:jl, ISBN:0140512713] synonym: "nucleoside anabolism" EXACT [] synonym: "nucleoside biosynthesis" EXACT [] synonym: "nucleoside formation" EXACT [] synonym: "nucleoside synthesis" EXACT [] is_a: GO:0009116 ! nucleoside metabolic process is_a: GO:0034654 ! nucleobase-containing compound biosynthetic process is_a: GO:1901566 ! organonitrogen compound biosynthetic process is_a: GO:1901659 ! glycosyl compound biosynthetic process [Term] id: GO:0009165 name: nucleotide biosynthetic process namespace: biological_process def: "The chemical reactions and pathways resulting in the formation of nucleotides, any nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic-nucleotides (nucleoside cyclic phosphates)." [GOC:go_curators] synonym: "nucleotide anabolism" EXACT [] synonym: "nucleotide biosynthesis" EXACT [] synonym: "nucleotide formation" EXACT [] synonym: "nucleotide synthesis" EXACT [] is_a: GO:0009117 ! nucleotide metabolic process is_a: GO:1901293 ! nucleoside phosphate biosynthetic process [Term] id: GO:0009167 name: purine ribonucleoside monophosphate metabolic process namespace: biological_process def: "The chemical reactions and pathways involving purine ribonucleoside monophosphate, a compound consisting of a purine base linked to a ribose sugar esterified with phosphate on the sugar." [GOC:go_curators, ISBN:0198506732] synonym: "purine ribonucleoside monophosphate metabolism" EXACT [] is_a: GO:0009126 ! purine nucleoside monophosphate metabolic process is_a: GO:0009161 ! ribonucleoside monophosphate metabolic process [Term] id: GO:0009168 name: purine ribonucleoside monophosphate biosynthetic process namespace: biological_process def: "The chemical reactions and pathways resulting in the formation of purine ribonucleoside monophosphate, a compound consisting of a purine base linked to a ribose sugar esterified with phosphate on the sugar." [GOC:go_curators, ISBN:0198506732] synonym: "purine ribonucleoside monophosphate anabolism" EXACT [] synonym: "purine ribonucleoside monophosphate biosynthesis" EXACT [] synonym: "purine ribonucleoside monophosphate formation" EXACT [] synonym: "purine ribonucleoside monophosphate synthesis" EXACT [] xref: Reactome:REACT_103616 xref: Reactome:REACT_105374 xref: Reactome:REACT_106062 xref: Reactome:REACT_106423 xref: Reactome:REACT_107566 xref: Reactome:REACT_108408 xref: Reactome:REACT_1776 xref: Reactome:REACT_28359 xref: Reactome:REACT_30059 xref: Reactome:REACT_30811 xref: Reactome:REACT_32997 xref: Reactome:REACT_33659 xref: Reactome:REACT_79911 xref: Reactome:REACT_80409 xref: Reactome:REACT_83164 xref: Reactome:REACT_84816 xref: Reactome:REACT_87285 xref: Reactome:REACT_92581 xref: Reactome:REACT_92811 xref: Reactome:REACT_93080 xref: Reactome:REACT_96162 is_a: GO:0009127 ! purine nucleoside monophosphate biosynthetic process is_a: GO:0009156 ! ribonucleoside monophosphate biosynthetic process is_a: GO:0009167 ! purine ribonucleoside monophosphate metabolic process [Term] id: GO:0009199 name: ribonucleoside triphosphate metabolic process namespace: biological_process def: "The chemical reactions and pathways involving a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar." [GOC:go_curators, ISBN:0198506732] synonym: "ribonucleoside triphosphate metabolism" EXACT [] is_a: GO:0009141 ! nucleoside triphosphate metabolic process [Term] id: GO:0009201 name: ribonucleoside triphosphate biosynthetic process namespace: biological_process def: "The chemical reactions and pathways resulting in the formation of a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar." [GOC:go_curators, ISBN:0198506732] synonym: "ribonucleoside triphosphate anabolism" EXACT [] synonym: "ribonucleoside triphosphate biosynthesis" EXACT [] synonym: "ribonucleoside triphosphate formation" EXACT [] synonym: "ribonucleoside triphosphate synthesis" EXACT [] is_a: GO:0009142 ! nucleoside triphosphate biosynthetic process is_a: GO:0009199 ! ribonucleoside triphosphate metabolic process [Term] id: GO:0009205 name: purine ribonucleoside triphosphate metabolic process namespace: biological_process def: "The chemical reactions and pathways involving purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar." [GOC:go_curators, ISBN:0198506732] synonym: "purine ribonucleoside triphosphate metabolism" EXACT [] is_a: GO:0009144 ! purine nucleoside triphosphate metabolic process is_a: GO:0009199 ! ribonucleoside triphosphate metabolic process [Term] id: GO:0009206 name: purine ribonucleoside triphosphate biosynthetic process namespace: biological_process def: "The chemical reactions and pathways resulting in the formation of purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar." [GOC:go_curators, ISBN:0198506732] synonym: "purine ribonucleoside triphosphate anabolism" EXACT [] synonym: "purine ribonucleoside triphosphate biosynthesis" EXACT [] synonym: "purine ribonucleoside triphosphate formation" EXACT [] synonym: "purine ribonucleoside triphosphate synthesis" EXACT [] is_a: GO:0009145 ! purine nucleoside triphosphate biosynthetic process is_a: GO:0009201 ! ribonucleoside triphosphate biosynthetic process is_a: GO:0009205 ! purine ribonucleoside triphosphate metabolic process [Term] id: GO:0009235 name: cobalamin metabolic process namespace: biological_process def: "The chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom." [GOC:go_curators] synonym: "cobalamin metabolism" EXACT [] synonym: "vitamin B12 metabolic process" EXACT [] synonym: "vitamin B12 metabolism" EXACT [] synonym: "vitamin B12 reduction" NARROW [] is_a: GO:0006725 ! cellular aromatic compound metabolic process is_a: GO:0006766 ! vitamin metabolic process is_a: GO:0046483 ! heterocycle metabolic process is_a: GO:1901360 ! organic cyclic compound metabolic process is_a: GO:1901564 ! organonitrogen compound metabolic process [Term] id: GO:0009259 name: ribonucleotide metabolic process namespace: biological_process alt_id: GO:0009121 def: "The chemical reactions and pathways involving a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar." [GOC:go_curators, ISBN:0198506732] synonym: "ribonucleotide metabolism" EXACT [] is_a: GO:0009117 ! nucleotide metabolic process is_a: GO:0019693 ! ribose phosphate metabolic process [Term] id: GO:0009260 name: ribonucleotide biosynthetic process namespace: biological_process def: "The chemical reactions and pathways resulting in the formation of a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar." [GOC:go_curators, ISBN:0198506732] synonym: "ribonucleotide anabolism" EXACT [] synonym: "ribonucleotide biosynthesis" EXACT [] synonym: "ribonucleotide formation" EXACT [] synonym: "ribonucleotide synthesis" EXACT [] is_a: GO:0009165 ! nucleotide biosynthetic process is_a: GO:0009259 ! ribonucleotide metabolic process is_a: GO:0046390 ! ribose phosphate biosynthetic process [Term] id: GO:0009277 name: fungal-type cell wall namespace: cellular_component def: "A rigid yet dynamic structure surrounding the plasma membrane that affords protection from stresses and contributes to cell morphogenesis, consisting of extensively cross-linked glycoproteins and carbohydrates. The glycoproteins may be modified with N- or O-linked carbohydrates, or glycosylphosphatidylinositol (GPI) anchors; the polysaccharides are primarily branched glucans, including beta-linked and alpha-linked glucans, and may also include chitin and other carbohydrate polymers, but not cellulose or pectin. Enzymes involved in cell wall biosynthesis are also found in the cell wall. Note that some forms of fungi develop a capsule outside of the cell wall under certain circumstances; this is considered a separate structure." [GOC:mcc, GOC:mtg_sensu, ISBN:3540601864, PMID:11283274, PMID:16927300, PMID:3319422] synonym: "beta-glucan-containing cell wall" RELATED [] synonym: "chitin- and beta-glucan-containing cell wall" NARROW [] synonym: "chitin-containing cell wall" RELATED [] is_a: GO:0030312 ! external encapsulating structure [Term] id: GO:0009279 name: cell outer membrane namespace: cellular_component def: "A lipid bilayer that forms the outermost membrane of the cell envelope; enriched in polysaccharide and protein; the outer leaflet of the membrane contains specific lipopolysaccharide structures." [GOC:md, GOC:mtg_sensu, ISBN:0135712254] comment: To annotate the plasma (cytoplasmic) membrane, see instead GO:0005886. subset: prokaryote_subset synonym: "outer membrane of cell" EXACT [] is_a: GO:0019867 ! outer membrane intersection_of: GO:0019867 ! outer membrane intersection_of: part_of GO:0030313 ! cell envelope relationship: part_of GO:0030312 ! external encapsulating structure relationship: part_of GO:0030313 ! cell envelope [Term] id: GO:0009306 name: protein secretion namespace: biological_process alt_id: GO:0045166 alt_id: GO:0045731 def: "The controlled release of proteins from a cell." [GOC:ai] synonym: "glycoprotein secretion" NARROW [] synonym: "protein secretion during cell fate commitment" NARROW [] synonym: "protein secretion resulting in cell fate commitment" NARROW [] is_a: GO:0015031 ! protein transport is_a: GO:0032940 ! secretion by cell [Term] id: GO:0009314 name: response to radiation namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an electromagnetic radiation stimulus. Electromagnetic radiation is a propagating wave in space with electric and magnetic components. These components oscillate at right angles to each other and to the direction of propagation." [GOC:jl, Wikipedia:Electromagnetic_radiation] comment: Note that 'radiation' refers to electromagnetic radiation of any wavelength. synonym: "response to electromagnetic radiation stimulus" EXACT [] synonym: "response to radiation stimulus" EXACT [] xref: GO:0009314 is_a: GO:0009628 ! response to abiotic stimulus property_value: gwas:trait "true" xsd:boolean [Term] id: GO:0009408 name: response to heat namespace: biological_process alt_id: GO:0006951 def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a heat stimulus, a temperature stimulus above the optimal temperature for that organism." [GOC:lr] subset: goslim_yeast synonym: "response to heat shock" NARROW [] is_a: GO:0006950 ! response to stress is_a: GO:0009628 ! response to abiotic stimulus [Term] id: GO:0009409 name: response to cold namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cold stimulus, a temperature stimulus below the optimal temperature for that organism." [GOC:lr] synonym: "freezing tolerance" RELATED [] is_a: GO:0006950 ! response to stress is_a: GO:0009628 ! response to abiotic stimulus [Term] id: GO:0009410 name: response to xenobiotic stimulus namespace: biological_process alt_id: GO:0017035 alt_id: GO:0017104 alt_id: GO:0042493 def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical." [GOC:jl, GOC:krc] subset: goslim_candida synonym: "drug resistance" RELATED [] synonym: "drug susceptibility/resistance" RELATED [] synonym: "response to drug" RELATED [] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000233 https://github.com/geneontology/go-ontology/issues/19460 xsd:anyURI [Term] id: GO:0009414 name: response to water deprivation namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a water deprivation stimulus, prolonged deprivation of water." [GOC:lr] synonym: "drought tolerance" RELATED [] synonym: "response to dehydration" EXACT [] synonym: "response to drought" EXACT [] synonym: "response to thirst" EXACT [] is_a: GO:0006950 ! response to stress is_a: GO:0009415 ! response to water [Term] id: GO:0009415 name: response to water namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of water." [GOC:jl] synonym: "response to water stimulus" EXACT [GOC:dos] is_a: GO:0009628 ! response to abiotic stimulus [Term] id: GO:0009507 name: chloroplast namespace: cellular_component def: "A chlorophyll-containing plastid with thylakoids organized into grana and frets, or stroma thylakoids, and embedded in a stroma." [ISBN:0471245208] subset: goslim_plant xref: NCIt:C13199 xref: Wikipedia:Chloroplast is_a: GO:0009536 ! plastid relationship: never_in_taxon NCBITaxon:28009 relationship: never_in_taxon NCBITaxon:33208 ! Metazoa relationship: never_in_taxon NCBITaxon:4751 ! Fungi relationship: never_in_taxon NCBITaxon:554915 [Term] id: GO:0009526 name: plastid envelope namespace: cellular_component def: "The double lipid bilayer enclosing a plastid and separating its contents from the rest of the cytoplasm; includes the intermembrane space." [GOC:jy] is_a: GO:0031967 ! organelle envelope relationship: part_of GO:0009536 ! plastid [Term] id: GO:0009536 name: plastid namespace: cellular_component def: "Any member of a family of organelles found in the cytoplasm of plants and some protists, which are membrane-bounded and contain DNA. Plant plastids develop from a common type, the proplastid." [GOC:jl, ISBN:0198547684] subset: goslim_chembl subset: goslim_generic subset: goslim_pir subset: goslim_plant xref: SNOMEDCT:68008002 xref: Wikipedia:Plastid is_a: GO:0043231 ! intracellular membrane-bounded organelle relationship: never_in_taxon NCBITaxon:2 ! Bacteria relationship: never_in_taxon NCBITaxon:2157 ! Archaea relationship: never_in_taxon NCBITaxon:28009 relationship: never_in_taxon NCBITaxon:33208 ! Metazoa relationship: never_in_taxon NCBITaxon:4751 ! Fungi relationship: never_in_taxon NCBITaxon:554915 relationship: part_of GO:0005737 ! cytoplasm [Term] id: GO:0009537 name: proplastid namespace: cellular_component def: "The precursor of other plastids." [ISBN:0943088399] is_a: GO:0009536 ! plastid [Term] id: GO:0009611 name: response to wounding namespace: biological_process alt_id: GO:0002245 def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to the organism." [GOC:go_curators] synonym: "physiological response to wounding" EXACT [] is_a: GO:0006950 ! response to stress [Term] id: GO:0009615 name: response to virus namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a virus." [GOC:hb] synonym: "response to viruses" EXACT [] is_a: GO:0044419 ! biological process involved in interspecies interaction between organisms is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean [Term] id: GO:0009628 name: response to abiotic stimulus namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an abiotic (not derived from living organisms) stimulus." [GOC:hb] comment: Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_manually_annotate subset: goslim_metagenomics subset: goslim_plant synonym: "response to abiotic stress" NARROW [] is_a: GO:0050896 ! response to stimulus property_value: IAO:0000233 https://github.com/geneontology/go-ontology/issues/16572 xsd:anyURI [Term] id: GO:0009856 name: pollination namespace: biological_process def: "The cascade of biological processes occurring in plants beginning when the pollen lands on the female reproductive organs of a plant and continuing up to, but not including, fertilization, as defined by sperm-egg cell fusion." [GOC:tb, PMID:10973091] subset: goslim_plant xref: Wikipedia:Pollination is_a: GO:0008150 ! biological_process relationship: part_of GO:0000003 ! reproduction [Term] id: GO:0009941 name: chloroplast envelope namespace: cellular_component def: "The double lipid bilayer enclosing the chloroplast and separating its contents from the rest of the cytoplasm; includes the intermembrane space." [GOC:tb] is_a: GO:0009526 ! plastid envelope relationship: part_of GO:0009507 ! chloroplast [Term] id: GO:0009987 name: cellular process namespace: biological_process alt_id: GO:0008151 alt_id: GO:0044763 alt_id: GO:0050875 def: "Any process that is carried out at the cellular level, but not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level." [GOC:go_curators, GOC:isa_complete] subset: gocheck_do_not_annotate subset: goslim_plant synonym: "cell growth and/or maintenance" NARROW [] synonym: "cell physiology" EXACT [] synonym: "cellular physiological process" EXACT [] synonym: "single-organism cellular process" RELATED [] xref: NCIt:C20480 is_a: GO:0008150 ! biological_process created_by: jl creation_date: 2012-12-11T16:56:55Z [Term] id: GO:0010226 name: response to lithium ion namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lithium (Li+) ion stimulus." [GOC:tb] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean [Term] id: GO:0010468 name: regulation of gene expression namespace: biological_process def: "Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA)." [GOC:txnOH-2018] comment: This class covers any process that regulates the rate of production of a mature gene product, and so includes processes that regulate that rate by regulating the level, stability or availability of intermediates in the process of gene expression. For example, it covers any process that regulates the level, stability or availability of mRNA or circRNA for translation and thereby regulates the rate of production of the encoded protein via translation. synonym: "gene regulation" RELATED [GOC:cjm] synonym: "regulation of gene product expression" RELATED [] synonym: "regulation of protein expression" NARROW [] xref: Wikipedia:Regulation_of_gene_expression is_a: GO:0050789 ! regulation of biological process property_value: IAO:0000233 https://github.com/geneontology/go-ontology/issues/22557 xsd:anyURI [Term] id: GO:0010543 name: regulation of platelet activation namespace: biological_process def: "Any process that modulates the rate or frequency of platelet activation. Platelet activation is a series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue." [GOC:BHF, GOC:dph, GOC:tb] is_a: GO:0050865 ! regulation of cell activation [Term] id: GO:0010876 name: lipid localization namespace: biological_process def: "Any process in which a lipid is transported to, or maintained in, a specific location." [GOC:BHF, GOC:dph, GOC:tb] synonym: "lipid localisation" EXACT [GOC:mah] is_a: GO:0008150 ! biological_process [Term] id: GO:0010960 name: magnesium ion homeostasis namespace: biological_process def: "Any process involved in the maintenance of an internal steady state of magnesium ions within an organism or cell." [GOC:dph, GOC:tb] xref: GO:0010960 is_a: GO:0042592 ! homeostatic process created_by: tb creation_date: 2009-05-06T11:47:17Z [Term] id: GO:0012505 name: endomembrane system namespace: cellular_component def: "A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles." [GOC:lh] subset: goslim_candida subset: goslim_flybase_ribbon subset: goslim_yeast xref: Wikipedia:Endomembrane_system is_a: GO:0005575 ! cellular_component [Term] id: GO:0012506 name: vesicle membrane namespace: cellular_component def: "The lipid bilayer surrounding any membrane-bounded vesicle in the cell." [GOC:mah, GOC:vesicle] xref: NIF_Subcellular:sao1153182838 is_a: GO:0031090 ! organelle membrane [Term] id: GO:0012507 name: ER to Golgi transport vesicle membrane namespace: cellular_component alt_id: GO:0030664 def: "The lipid bilayer surrounding a vesicle transporting substances from the endoplasmic reticulum to the Golgi." [GOC:ai, GOC:ascb_2009, GOC:dph, GOC:tb] synonym: "COPII coated vesicle membrane" EXACT [] synonym: "endoplasmic reticulum to Golgi transport vesicle membrane" EXACT [] synonym: "endoplasmic reticulum-Golgi transport vesicle membrane" EXACT [] synonym: "ER to Golgi constitutive secretory pathway transport vesicle membrane" EXACT [] synonym: "ER-Golgi transport vesicle membrane" EXACT [] is_a: GO:0030658 ! transport vesicle membrane is_a: GO:0030662 ! coated vesicle membrane relationship: part_of GO:0030134 ! COPII-coated ER to Golgi transport vesicle [Term] id: GO:0012511 name: monolayer-surrounded lipid storage body namespace: cellular_component alt_id: GO:0009520 def: "A subcellular organelle of plant cells surrounded by 'half-unit' or a monolayer membrane instead of the more usual bilayer. The storage body has a droplet of triglyceride surrounded by a monolayer of phospholipids, interacting with the triglycerides and the hydrophilic head groups facing the cytosol, and containing major protein components called oleosins." [GOC:mtg_sensu, ISBN:0943088372] synonym: "oil body" EXACT [] synonym: "oilbody" EXACT [] synonym: "oleosome" EXACT [] synonym: "spherosome" EXACT [] xref: Wikipedia:Oil_body is_a: GO:0043232 ! intracellular non-membrane-bounded organelle [Term] id: GO:0014069 name: postsynaptic density namespace: cellular_component alt_id: GO:0097481 alt_id: GO:0097483 def: "An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components." [GOC:BHF, GOC:dos, GOC:ef, GOC:jid, GOC:pr, GOC:sjp, http://molneuro.kaist.ac.kr/psd, PMID:14532281, Wikipedia:Postsynaptic_density] subset: goslim_synapse synonym: "neuronal postsynaptic density" EXACT [GO:0097481] synonym: "post synaptic density" EXACT [] synonym: "post-synaptic density" EXACT [] synonym: "postsynaptic density of dendrite" NARROW [] xref: NIF_Subcellular:sao1196688972 xref: Wikipedia:Postsynaptic_density is_a: GO:0043226 ! organelle created_by: pr creation_date: 2013-07-02T09:44:28Z [Term] id: GO:0014072 name: response to isoquinoline alkaloid namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an isoquinoline alkaloid stimulus. An isoquinoline alkaloid is any member of a group of compounds with the heterocyclic ring structure of benzo(c)pyridine which is a structure characteristic of the group of opium alkaloids." [GOC:ef] is_a: EFO:0008541 ! response to opioid property_value: gwas:trait "true" xsd:boolean [Term] id: GO:0014831 name: gastro-intestinal system smooth muscle contraction namespace: biological_process def: "A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. This process occurs in the gastro-intestinal system. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. The gastro-intestinal system generally refers to the digestive structures stretching from the mouth to anus, but does not include the accessory glandular organs (liver, pancreas and biliary tract)." [GOC:mtg_muscle, MA:0001523, MSH:D041981] is_a: GO:0006939 ! smooth muscle contraction [Term] id: GO:0014848 name: urinary tract smooth muscle contraction namespace: biological_process def: "A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. This process occurs in the urinary tract. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. The urinary tract consists of organs of the body that produce and discharge urine. These include the kidneys, ureters, bladder, and urethra." [GOC:ef, GOC:mtg_muscle, MA:0000325, MSH:D014551] is_a: GO:0006939 ! smooth muscle contraction [Term] id: GO:0015031 name: protein transport namespace: biological_process alt_id: GO:0015831 def: "The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." [GOC:ai] subset: goslim_chembl subset: goslim_pir subset: goslim_yeast synonym: "enzyme transport" NARROW [] is_a: GO:0006810 ! transport is_a: GO:0045184 ! establishment of protein localization [Term] id: GO:0015630 name: microtubule cytoskeleton namespace: cellular_component def: "The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins." [GOC:jl, ISBN:0395825172] is_a: GO:0005856 ! cytoskeleton [Term] id: GO:0015884 name: folic acid transport namespace: biological_process def: "The directed movement of folic acid (pteroylglutamic acid) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Folic acid is widely distributed as a member of the vitamin B complex and is essential for the synthesis of purine and pyrimidines." [GOC:ai] synonym: "folate transport" EXACT [] synonym: "vitamin B9 transport" EXACT [] synonym: "vitamin M transport" EXACT [] is_a: GO:0051180 ! vitamin transport [Term] id: GO:0015939 name: pantothenate metabolic process namespace: biological_process alt_id: GO:0006770 def: "The chemical reactions and pathways involving pantothenate, the anion of pantothenic acid, the amide of beta-alanine and pantoic acid. It is a B complex vitamin that is a constituent of coenzyme A and is distributed ubiquitously in foods." [GOC:ai, ISBN:0721662544] synonym: "pantothenate metabolism" EXACT [] synonym: "vitamin B5 metabolic process" EXACT [] synonym: "vitamin B5 metabolism" EXACT [] xref: Reactome:REACT_103358 xref: Reactome:REACT_104492 xref: Reactome:REACT_105528 xref: Reactome:REACT_106249 xref: Reactome:REACT_108156 xref: Reactome:REACT_108431 xref: Reactome:REACT_110397 xref: Reactome:REACT_110826 xref: Reactome:REACT_110973 xref: Reactome:REACT_11172 xref: Reactome:REACT_28656 xref: Reactome:REACT_30617 xref: Reactome:REACT_82950 xref: Reactome:REACT_83019 xref: Reactome:REACT_83248 xref: Reactome:REACT_86752 xref: Reactome:REACT_86839 xref: Reactome:REACT_87697 xref: Reactome:REACT_89166 xref: Reactome:REACT_92560 xref: Reactome:REACT_93339 is_a: GO:0006766 ! vitamin metabolic process is_a: GO:0044237 ! cellular metabolic process is_a: GO:1901564 ! organonitrogen compound metabolic process [Term] id: GO:0016020 name: membrane namespace: cellular_component alt_id: GO:0016021 alt_id: GO:0098589 alt_id: GO:0098805 def: "A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it." [GOC:dos, GOC:mah, ISBN:0815316194] subset: goslim_candida subset: goslim_chembl subset: goslim_flybase_ribbon subset: goslim_metagenomics subset: goslim_pir subset: goslim_plant subset: goslim_yeast synonym: "integral component of membrane" NARROW [] synonym: "integral to membrane" NARROW [] synonym: "membrane region" NARROW [] synonym: "region of membrane" NARROW [] synonym: "transmembrane" RELATED [GOC:mah] synonym: "whole membrane" NARROW [] xref: NCIt:C12749 xref: Wikipedia:Biological_membrane xref: Wikipedia:Transmembrane_protein is_a: GO:0005575 ! cellular_component creation_date: 2014-03-06T11:37:54Z [Term] id: GO:0016043 name: cellular component organization namespace: biological_process alt_id: GO:0044235 alt_id: GO:0071842 def: "A process that results in the assembly, arrangement of constituent parts, or disassembly of a cellular component." [GOC:ai, GOC:jl, GOC:mah] subset: goslim_agr subset: goslim_mouse subset: goslim_pir subset: goslim_plant synonym: "cell organisation" EXACT [] synonym: "cell organization and biogenesis" RELATED [GOC:mah] synonym: "cellular component organisation at cellular level" EXACT [GOC:mah] synonym: "cellular component organisation in other organism" EXACT [GOC:mah] synonym: "cellular component organization at cellular level" EXACT [] synonym: "cellular component organization in other organism" EXACT [] is_a: GO:0009987 ! cellular process [Term] id: GO:0016119 name: carotene metabolic process namespace: biological_process def: "The chemical reactions and pathways involving carotenes, hydrocarbon carotenoids." [ISBN:0198547684] synonym: "carotene metabolism" EXACT [] is_a: GO:0006629 ! lipid metabolic process is_a: GO:0044237 ! cellular metabolic process [Term] id: GO:0018130 name: heterocycle biosynthetic process namespace: biological_process def: "The chemical reactions and pathways resulting in the formation of heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings)." [ISBN:0198547684] synonym: "heterocycle anabolism" EXACT [] synonym: "heterocycle biosynthesis" EXACT [] synonym: "heterocycle formation" EXACT [] synonym: "heterocycle synthesis" EXACT [] is_a: GO:0044249 ! cellular biosynthetic process is_a: GO:0046483 ! heterocycle metabolic process [Term] id: GO:0019233 name: sensory perception of pain namespace: biological_process def: "The series of events required for an organism to receive a painful stimulus, convert it to a molecular signal, and recognize and characterize the signal. Pain is medically defined as the physical sensation of discomfort or distress caused by injury or illness, so can hence be described as a harmful stimulus which signals current (or impending) tissue damage. Pain may come from extremes of temperature, mechanical damage, electricity or from noxious chemical substances. This is a neurological process." [GOC:curators] synonym: "nociception" RELATED [] synonym: "perception of physiological pain" NARROW [] xref: Wikipedia:Nociception is_a: GO:0007600 ! sensory perception [Term] id: GO:0019438 name: aromatic compound biosynthetic process namespace: biological_process def: "The chemical reactions and pathways resulting in the formation of aromatic compounds, any substance containing an aromatic carbon ring." [GOC:ai] synonym: "aromatic compound anabolism" EXACT [] synonym: "aromatic compound biosynthesis" EXACT [] synonym: "aromatic compound formation" EXACT [] synonym: "aromatic compound synthesis" EXACT [] synonym: "aromatic hydrocarbon biosynthesis" NARROW [] synonym: "aromatic hydrocarbon biosynthetic process" NARROW [] is_a: GO:0006725 ! cellular aromatic compound metabolic process is_a: GO:0044249 ! cellular biosynthetic process [Term] id: GO:0019538 name: protein metabolic process namespace: biological_process alt_id: GO:0006411 alt_id: GO:0044267 alt_id: GO:0044268 def: "The chemical reactions and pathways involving a protein. Includes protein modification." [GOC:ma] subset: goslim_agr subset: goslim_flybase_ribbon subset: goslim_mouse subset: goslim_pir subset: goslim_plant synonym: "cellular protein metabolic process" EXACT [] synonym: "cellular protein metabolism" EXACT [] synonym: "multicellular organismal protein metabolic process" NARROW [] synonym: "protein metabolic process and modification" EXACT [] synonym: "protein metabolism" EXACT [] synonym: "protein metabolism and modification" EXACT [] xref: Wikipedia:Protein_metabolism is_a: GO:0043170 ! macromolecule metabolic process is_a: GO:0044238 ! primary metabolic process is_a: GO:1901564 ! organonitrogen compound metabolic process property_value: IAO:0000233 https://github.com/geneontology/go-ontology/issues/23112 xsd:anyURI [Term] id: GO:0019637 name: organophosphate metabolic process namespace: biological_process def: "The chemical reactions and pathways involving organophosphates, any phosphate-containing organic compound." [ISBN:0198506732] synonym: "organophosphate metabolism" EXACT [] is_a: GO:0006793 ! phosphorus metabolic process is_a: GO:0071704 ! organic substance metabolic process [Term] id: GO:0019693 name: ribose phosphate metabolic process namespace: biological_process def: "The chemical reactions and pathways involving ribose phosphate, any phosphorylated ribose sugar." [GOC:ai] synonym: "ribose phosphate metabolism" EXACT [] is_a: GO:0006796 ! phosphate-containing compound metabolic process is_a: GO:0019637 ! organophosphate metabolic process is_a: GO:1901135 ! carbohydrate derivative metabolic process [Term] id: GO:0019867 name: outer membrane namespace: cellular_component def: "The external membrane of Gram-negative bacteria or certain organelles such as mitochondria and chloroplasts; freely permeable to most ions and metabolites." [GOC:go_curators] subset: goslim_metagenomics is_a: GO:0016020 ! membrane [Term] id: GO:0022402 name: cell cycle process namespace: biological_process def: "The cellular process that ensures successive accurate and complete genome replication and chromosome segregation." [GOC:isa_complete, GOC:mtg_cell_cycle] subset: gocheck_do_not_annotate xref: NCIt:C16397 is_a: GO:0009987 ! cellular process intersection_of: GO:0009987 ! cellular process intersection_of: part_of GO:0007049 ! cell cycle relationship: part_of GO:0007049 ! cell cycle [Term] id: GO:0023052 alt_id: GO:0044700 [Term] id: GO:0030075 name: bacterial thylakoid namespace: cellular_component def: "A thylakoid that is derived from and attached to, but not necessarily continuous with, the plasma membrane, and is not enclosed in a plastid. It bears the photosynthetic pigments in photosynthetic cyanobacteria." [GOC:mah, GOC:mtg_sensu] synonym: "plasma membrane-derived thylakoid" EXACT [] is_a: GO:0043232 ! intracellular non-membrane-bounded organelle [Term] id: GO:0030101 name: natural killer cell activation namespace: biological_process def: "The change in morphology and behavior of a natural killer cell in response to a cytokine, chemokine, cellular ligand, or soluble factor." [GOC:mgi_curators, ISBN:0781735149] synonym: "NK cell activation" EXACT [] is_a: GO:0045321 ! leukocyte activation [Term] id: GO:0030133 name: transport vesicle namespace: cellular_component def: "Any of the vesicles of the constitutive secretory pathway, which carry cargo from the endoplasmic reticulum to the Golgi, between Golgi cisternae, from the Golgi to the ER (retrograde transport) or to destinations within or outside the cell." [GOC:mah, PMID:22160157] comment: Note that the term 'secretory vesicle' is sometimes used in this sense, but can also mean 'secretory granule ; GO:0030141'. synonym: "constitutive secretory pathway transport vesicle" EXACT [] synonym: "Golgi to vacuole transport vesicle" NARROW [] synonym: "Golgi-vacuole transport vesicle" NARROW [] synonym: "secretory vesicle" RELATED [] xref: NCIt:C33804 xref: NIF_Subcellular:sao885490876 is_a: GO:0031410 ! cytoplasmic vesicle relationship: part_of GO:0012505 ! endomembrane system [Term] id: GO:0030134 name: COPII-coated ER to Golgi transport vesicle namespace: cellular_component alt_id: GO:0030138 alt_id: GO:0140045 def: "A vesicle with a coat formed of the COPII coat complex proteins. The COPII coat complex is formed by the Sec23p/Sec24p and the Sec13p/Sec31p heterodimers. COPII-associated vesicles transport proteins from the rough endoplasmic reticulum to the Golgi apparatus (anterograde transport)." [PMID:11252894, PMID:17499046, PMID:22160157, PMID:8004676, Wikipedia:COPII] synonym: "COPII vesicle" RELATED [] synonym: "COPII-associated ER to Golgi transport vesicle" EXACT [] synonym: "COPII-associated vesicle" EXACT [] synonym: "COPII-coated vesicle" EXACT [] synonym: "endoplasmic reticulum to Golgi transport vesicle" RELATED [] synonym: "endoplasmic reticulum-Golgi transport vesicle" RELATED [] synonym: "ER to Golgi constitutive secretory pathway transport vesicle" RELATED [] synonym: "ER to Golgi transport vesicle" RELATED [] synonym: "ER-Golgi transport vesicle" RELATED [] is_a: GO:0030135 ! coated vesicle created_by: pg creation_date: 2017-06-22T16:26:57Z [Term] id: GO:0030135 name: coated vesicle namespace: cellular_component alt_id: GO:0005909 def: "Small membrane-bounded organelle formed by pinching off of a coated region of membrane. Some coats are made of clathrin, whereas others are made from other proteins." [ISBN:0815316194] subset: goslim_drosophila xref: NCIt:C32331 xref: NIF_Subcellular:sao1985096626 xref: SNOMEDCT:28135007 is_a: GO:0031410 ! cytoplasmic vesicle [Term] id: GO:0030155 name: regulation of cell adhesion namespace: biological_process def: "Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix." [GOC:mah] synonym: "cell adhesion receptor regulator activity" RELATED [] is_a: GO:0050794 ! regulation of cellular process [Term] id: GO:0030157 name: pancreatic juice secretion namespace: biological_process def: "The regulated release of pancreatic juice by the exocrine pancreas into the upper part of the intestine. Pancreatic juice is slightly alkaline and contains numerous enzymes and inactive enzyme precursors including alpha-amylase, chymotrypsinogen, lipase, procarboxypeptidase, proelastase, prophospholipase A2, ribonuclease, and trypsinogen. Its high concentration of bicarbonate ions helps to neutralize the acid from the stomach." [GOC:mah, ISBN:0198506732] is_a: GO:0003008 ! system process is_a: GO:0006810 ! transport relationship: part_of GO:0007586 ! digestion [Term] id: GO:0030168 name: platelet activation namespace: biological_process def: "A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug." [http://www.graylab.ac.uk/omd/] synonym: "blood coagulation, platelet activation" EXACT [GOC:add, GOC:pde] is_a: GO:0001775 ! cell activation relationship: part_of GO:0007596 ! blood coagulation [Term] id: GO:0030218 name: erythrocyte differentiation namespace: biological_process def: "The process in which a myeloid precursor cell acquires specializes features of an erythrocyte." [GOC:mah] synonym: "erythrocyte cell differentiation" EXACT [] synonym: "erythropoiesis" EXACT [GOC:add, GOC:dph] synonym: "RBC differentiation" EXACT [CL:0000232] synonym: "red blood cell differentiation" EXACT [CL:0000232] xref: Wikipedia:Erythropoiesis is_a: GO:0009987 ! cellular process is_a: GO:0032502 ! developmental process [Term] id: GO:0030252 name: growth hormone secretion namespace: biological_process def: "The regulated release of growth hormone from secretory granules into the blood." [GOC:mah] synonym: "somatotropin secretion" EXACT [GOC:mah] is_a: GO:0046879 ! hormone secretion [Term] id: GO:0030284 name: nuclear estrogen receptor activity namespace: molecular_function def: "Combining with estrogen and transmitting the signal within the cell to trigger a change in cell activity or function." [GOC:signaling, PMID:17615392] synonym: "estrogen receptor activity" BROAD [] is_a: GO:0038023 ! signaling receptor activity property_value: IAO:0000233 https://github.com/geneontology/go-ontology/issues/16717 xsd:anyURI [Term] id: GO:0030312 name: external encapsulating structure namespace: cellular_component def: "A structure that lies outside the plasma membrane and surrounds the entire cell or cells. This does not include the periplasmic space." [GOC:go_curators] comment: The outer membrane (of gram negative bacteria) or cell wall (of yeast or Gram positive bacteria) are defined as parts of this structure, see 'external encapsulating structure part'. subset: goslim_chembl subset: goslim_drosophila subset: goslim_generic subset: goslim_pir subset: goslim_plant is_a: GO:0005575 ! cellular_component relationship: part_of GO:0071944 ! cell periphery [Term] id: GO:0030313 name: cell envelope namespace: cellular_component def: "An envelope that surrounds a bacterial cell and includes the cytoplasmic membrane and everything external, encompassing the periplasmic space, cell wall, and outer membrane if present." [GOC:ds, GOC:mlg, http://pathmicro.med.sc.edu/fox/cell_envelope.htm] subset: goslim_pir xref: Wikipedia:Cell_envelope is_a: GO:0005575 ! cellular_component relationship: has_part GO:0005886 ! plasma membrane [Term] id: GO:0030430 name: host cell cytoplasm namespace: cellular_component alt_id: GO:0097679 def: "The cytoplasm of a host cell." [GOC:mah] synonym: "other organism cytoplasm" RELATED [] is_a: GO:0033646 ! host intracellular part created_by: pr creation_date: 2014-12-01T14:14:21Z [Term] id: GO:0030431 name: sleep namespace: biological_process def: "Any process in which an organism enters and maintains a periodic, readily reversible state of reduced awareness and metabolic activity. Usually accompanied by physical relaxation, the onset of sleep in humans and other mammals is marked by a change in the electrical activity of the brain." [ISBN:0192800981] subset: goslim_pir synonym: "diapause" RELATED [] synonym: "dormancy" RELATED [] synonym: "lethargus" RELATED [] xref: MeSH:D012890 xref: NCIt:C73425 xref: SNOMEDCT:258158006 xref: Wikipedia:Sleep is_a: GO:0032501 ! multicellular organismal process [Term] id: GO:0030658 name: transport vesicle membrane namespace: cellular_component def: "The lipid bilayer surrounding a transport vesicle." [GOC:mah] synonym: "constitutive secretory pathway transport vesicle membrane" EXACT [] synonym: "secretory vesicle membrane" BROAD [] is_a: GO:0030659 ! cytoplasmic vesicle membrane relationship: part_of GO:0012505 ! endomembrane system relationship: part_of GO:0030133 ! transport vesicle [Term] id: GO:0030659 name: cytoplasmic vesicle membrane namespace: cellular_component def: "The lipid bilayer surrounding a cytoplasmic vesicle." [GOC:mah] is_a: GO:0012506 ! vesicle membrane intersection_of: GO:0016020 ! membrane intersection_of: part_of GO:0031410 ! cytoplasmic vesicle relationship: part_of GO:0031410 ! cytoplasmic vesicle [Term] id: GO:0030662 name: coated vesicle membrane namespace: cellular_component def: "The lipid bilayer surrounding a coated vesicle." [GOC:mah] is_a: GO:0030659 ! cytoplasmic vesicle membrane relationship: part_of GO:0030135 ! coated vesicle [Term] id: GO:0030667 name: secretory granule membrane namespace: cellular_component def: "The lipid bilayer surrounding a secretory granule." [GOC:mah] synonym: "secretory vesicle membrane" BROAD [] is_a: GO:0030659 ! cytoplasmic vesicle membrane [Term] id: GO:0030728 name: ovulation namespace: biological_process def: "The release of a mature ovum/oocyte from an ovary." [GOC:bf, ISBN:0878932437] xref: Wikipedia:Ovulation is_a: GO:0008150 ! biological_process relationship: part_of GO:0000003 ! reproduction property_value: gwas:trait "true" xsd:boolean [Term] id: GO:0031012 name: extracellular matrix namespace: cellular_component alt_id: GO:0005578 def: "A structure lying external to one or more cells, which provides structural support, biochemical or biomechanical cues for cells or tissues." [GOC:BHF, GOC:mah, GOC:rph, NIF_Subcellular:nlx_subcell_20090513, PMID:21123617, PMID:28089324] subset: goslim_chembl subset: goslim_drosophila subset: goslim_generic subset: goslim_pir subset: prokaryote_subset synonym: "matrisome" NARROW [] synonym: "proteinaceous extracellular matrix" EXACT [] xref: MeSH:D005109 xref: NCIt:C13232 xref: NIF_Subcellular:nlx_subcell_20090513 xref: Wikipedia:Extracellular_matrix is_a: GO:0030312 ! external encapsulating structure [Term] id: GO:0031090 name: organelle membrane namespace: cellular_component def: "A membrane that is one of the two lipid bilayers of an organelle envelope or the outermost membrane of single membrane bound organelle." [GOC:dos, GOC:mah] synonym: "intracellular membrane" RELATED [NIF_Subcellular:sao830981606] xref: NIF_Subcellular:sao830981606 is_a: GO:0016020 ! membrane intersection_of: GO:0016020 ! membrane intersection_of: part_of GO:0043227 ! membrane-bounded organelle relationship: part_of GO:0043227 ! membrane-bounded organelle [Term] id: GO:0031410 name: cytoplasmic vesicle namespace: cellular_component alt_id: GO:0016023 def: "A vesicle found in the cytoplasm of a cell." [GOC:ai, GOC:mah, GOC:vesicles] subset: goslim_agr subset: goslim_candida subset: goslim_chembl subset: goslim_generic subset: goslim_mouse subset: goslim_yeast synonym: "cytoplasmic membrane bounded vesicle" RELATED [] synonym: "cytoplasmic membrane-enclosed vesicle" RELATED [] synonym: "cytoplasmic, membrane-bounded vesicle" RELATED [] xref: NIF_Subcellular:sao180601769 is_a: GO:0043231 ! intracellular membrane-bounded organelle relationship: part_of GO:0005737 ! cytoplasm [Term] id: GO:0031427 name: response to methotrexate namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a methotrexate stimulus. Methotrexate is 4-amino-10-methylformic acid, a folic acid analogue that is a potent competitive inhibitor of dihydrofolate reductase." [GOC:ef, GOC:mah, ISBN:0198506732] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean [Term] id: GO:0031644 name: regulation of nervous system process namespace: biological_process def: "Any process that modulates the frequency, rate or extent of a neurophysiological process, an organ system process carried out by any of the organs or tissues of the nervous system." [GOC:dph, GOC:mah, GOC:tb] synonym: "regulation of neurological process" EXACT [GOC:dph, GOC:tb] synonym: "regulation of neurological system process" EXACT [] synonym: "regulation of neurophysiological process" EXACT [] is_a: GO:0044057 ! regulation of system process [Term] id: GO:0031960 name: response to corticosteroid namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a corticosteroid hormone stimulus. A corticosteroid is a steroid hormone that is produced in the adrenal cortex. Corticosteroids are involved in a wide range of physiologic systems such as stress response, immune response and regulation of inflammation, carbohydrate metabolism, protein catabolism, blood electrolyte levels, and behavior. They include glucocorticoids and mineralocorticoids." [GOC:mah, PMID:11027914] synonym: "response to corticosteroid stimulus" EXACT [GOC:dos] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean [Term] id: GO:0031967 name: organelle envelope namespace: cellular_component def: "A double membrane structure enclosing an organelle, including two lipid bilayers and the region between them. In some cases, an organelle envelope may have more than two membranes." [GOC:mah, GOC:pz] subset: goslim_mouse is_a: GO:0005575 ! cellular_component relationship: part_of GO:0043227 ! membrane-bounded organelle relationship: part_of GO:0043229 ! intracellular organelle [Term] id: GO:0031969 name: chloroplast membrane namespace: cellular_component def: "Either of the lipid bilayers that surround a chloroplast and form the chloroplast envelope." [GOC:mah, GOC:pz] xref: Wikipedia:Chloroplast_membrane is_a: GO:0042170 ! plastid membrane relationship: part_of GO:0009941 ! chloroplast envelope [Term] id: GO:0031970 name: organelle envelope lumen namespace: cellular_component def: "The region between the inner and outer lipid bilayers of an organelle envelope." [GOC:mah] synonym: "organelle intermembrane space" EXACT [] is_a: GO:0031974 ! membrane-enclosed lumen relationship: part_of GO:0031967 ! organelle envelope relationship: part_of GO:0043226 ! organelle relationship: part_of GO:0043229 ! intracellular organelle [Term] id: GO:0031974 name: membrane-enclosed lumen namespace: cellular_component def: "The enclosed volume within a sealed membrane or between two sealed membranes. Encompasses the volume enclosed by the membranes of a particular organelle, e.g. endoplasmic reticulum lumen, or the space between the two lipid bilayers of a double membrane surrounding an organelle, e.g. nuclear envelope lumen." [GOC:add, GOC:mah] is_a: GO:0005575 ! cellular_component [Term] id: GO:0031981 name: nuclear lumen namespace: cellular_component def: "The volume enclosed by the nuclear inner membrane." [GOC:mah, GOC:pz] is_a: GO:0031974 ! membrane-enclosed lumen relationship: part_of GO:0005634 ! nucleus relationship: part_of GO:0043226 ! organelle relationship: part_of GO:0043229 ! intracellular organelle [Term] id: GO:0032276 name: regulation of gonadotropin secretion namespace: biological_process def: "Any process that modulates the frequency, rate or extent of the regulated release of a gonadotropin." [GOC:mah] synonym: "regulation of gonadotrophin secretion" EXACT [] is_a: GO:0044057 ! regulation of system process is_a: GO:0046883 ! regulation of hormone secretion [Term] id: GO:0032277 name: negative regulation of gonadotropin secretion namespace: biological_process def: "Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a gonadotropin." [GOC:mah] synonym: "down regulation of gonadotropin secretion" EXACT [] synonym: "down-regulation of gonadotropin secretion" EXACT [] synonym: "downregulation of gonadotropin secretion" EXACT [] synonym: "inhibition of gonadotropin secretion" NARROW [] synonym: "negative regulation of gonadotrophin secretion" EXACT [GOC:dph] is_a: GO:0032276 ! regulation of gonadotropin secretion [Term] id: GO:0032501 name: multicellular organismal process namespace: biological_process alt_id: GO:0044707 alt_id: GO:0050874 def: "Any biological process, occurring at the level of a multicellular organism, pertinent to its function." [GOC:curators, GOC:dph, GOC:isa_complete, GOC:tb] subset: gocheck_do_not_annotate subset: goslim_pir synonym: "organismal physiological process" EXACT [] synonym: "single-multicellular organism process" RELATED [] is_a: GO:0008150 ! biological_process relationship: never_in_taxon NCBITaxon:2 ! Bacteria relationship: never_in_taxon NCBITaxon:2157 ! Archaea relationship: never_in_taxon NCBITaxon:4896 ! Schizosaccharomyces pombe relationship: never_in_taxon NCBITaxon:4932 ! Saccharomyces cerevisiae created_by: jl creation_date: 2012-09-19T16:07:47Z [Term] id: GO:0032502 name: developmental process namespace: biological_process alt_id: GO:0044767 def: "A biological process whose specific outcome is the progression of an integrated living unit: an anatomical structure (which may be a subcellular structure, cell, tissue, or organ), or organism over time from an initial condition to a later condition." [GOC:isa_complete] subset: goslim_agr subset: goslim_flybase_ribbon subset: goslim_pir synonym: "development" NARROW [] synonym: "single-organism developmental process" RELATED [] xref: NCIt:C21147 is_a: GO:0008150 ! biological_process created_by: jl creation_date: 2012-12-19T12:21:31Z [Term] id: GO:0032940 name: secretion by cell namespace: biological_process def: "The controlled release of a substance by a cell." [GOC:mah] synonym: "cellular secretion" EXACT [] xref: Wikipedia:Secretion is_a: GO:0006810 ! transport is_a: GO:0009987 ! cellular process [Term] id: GO:0033142 name: nuclear progesterone receptor binding namespace: molecular_function def: "Binding to a nuclear progesterone receptor." [GOC:mah] synonym: "progesterone receptor binding" BROAD [] is_a: GO:0003674 ! molecular_function property_value: IAO:0000233 https://github.com/geneontology/go-ontology/issues/16717 xsd:anyURI [Term] id: GO:0033273 name: response to vitamin namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin stimulus." [GOC:sl] is_a: GO:0050896 ! response to stimulus relationship: IAO:0000136 CHEBI:33229 ! is_about vitamin (role) property_value: gwas:trait "true" xsd:boolean [Term] id: GO:0033577 name: obsolete protein glycosylation in endoplasmic reticulum namespace: biological_process def: "OBSOLETE. The addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in the endoplasmic reticulum." [GOC:mah, GOC:pr, PMID:12042244] synonym: "core glycosylation" RELATED [PMID:6345657] synonym: "protein amino acid glycosylation in endoplasmic reticulum" EXACT [GOC:bf] synonym: "protein amino acid glycosylation in ER" EXACT [] property_value: IAO:0000233 https://github.com/geneontology/go-ontology/issues/23163 xsd:anyURI is_obsolete: true replaced_by: GO:0006486 [Term] id: GO:0033643 name: host cell part namespace: cellular_component def: "Any constituent part of a host cell. The host is defined as the larger of the organisms involved in a symbiotic interaction." [GOC:pamgo_curators] comment: Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_annotate is_a: GO:0005575 ! cellular_component intersection_of: GO:0005575 ! cellular_component intersection_of: part_of GO:0043657 ! host cell relationship: never_in_taxon NCBITaxon:7742 relationship: part_of GO:0043657 ! host cell [Term] id: GO:0033646 name: host intracellular part namespace: cellular_component def: "Any constituent part of the living contents of a host cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm. The host is defined as the larger of the organisms involved in a symbiotic interaction." [GOC:pamgo_curators] comment: Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_annotate synonym: "host cell intracellular part" EXACT [] is_a: GO:0033643 ! host cell part relationship: part_of GO:0043656 ! host intracellular region [Term] id: GO:0033687 name: osteoblast proliferation namespace: biological_process def: "The multiplication or reproduction of osteoblasts, resulting in the expansion of an osteoblast cell population. An osteoblast is a bone-forming cell which secretes an extracellular matrix. Hydroxyapatite crystals are then deposited into the matrix to form bone." [GOC:mah] is_a: GO:0008283 ! cell population proliferation [Term] id: GO:0034097 name: response to cytokine namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus." [GOC:sl] synonym: "response to cytokine stimulus" EXACT [GOC:dos] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean [Term] id: GO:0034641 name: cellular nitrogen compound metabolic process namespace: biological_process def: "The chemical reactions and pathways involving various organic and inorganic nitrogenous compounds, as carried out by individual cells." [GOC:mah] subset: goslim_chembl synonym: "cellular nitrogen compound metabolism" EXACT [] is_a: GO:0006807 ! nitrogen compound metabolic process is_a: GO:0044237 ! cellular metabolic process [Term] id: GO:0034654 name: nucleobase-containing compound biosynthetic process namespace: biological_process def: "The chemical reactions and pathways resulting in the formation of nucleobases, nucleosides, nucleotides and nucleic acids." [GOC:mah] synonym: "nucleobase, nucleoside, nucleotide and nucleic acid anabolism" EXACT [] synonym: "nucleobase, nucleoside, nucleotide and nucleic acid biosynthesis" EXACT [] synonym: "nucleobase, nucleoside, nucleotide and nucleic acid formation" EXACT [] synonym: "nucleobase, nucleoside, nucleotide and nucleic acid synthesis" NARROW [] is_a: GO:0006139 ! nucleobase-containing compound metabolic process is_a: GO:0018130 ! heterocycle biosynthetic process is_a: GO:0019438 ! aromatic compound biosynthetic process is_a: GO:0044271 ! cellular nitrogen compound biosynthetic process is_a: GO:1901362 ! organic cyclic compound biosynthetic process [Term] id: GO:0035194 alt_id: GO:0016246 [Term] id: GO:0035456 name: response to interferon-beta namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interferon-beta stimulus. Interferon-beta is a type I interferon." [GOC:sl, PMID:9561374] synonym: "response to beta-1 interferon" RELATED [GOC:sl] synonym: "response to fiblaferon" EXACT [GOC:sl] synonym: "response to fibroblast interferon" EXACT [GOC:sl] synonym: "response to interferon beta" EXACT [GOC:hp, PR:000008924] is_a: EFO:0007859 ! response to interferon property_value: gwas:trait "true" xsd:boolean created_by: bf creation_date: 2010-04-16T11:06:12Z [Term] id: GO:0035483 name: gastric emptying namespace: biological_process def: "The process in which the liquid and liquid-suspended solid contents of the stomach exit through the pylorus into the duodenum." [GOC:cy, ISBN:9781416032458] is_a: GO:0003008 ! system process relationship: part_of GO:0007586 ! digestion created_by: bf creation_date: 2010-04-23T10:51:33Z [Term] id: GO:0035812 name: renal sodium excretion namespace: biological_process def: "The elimination of sodium ions from peritubular capillaries (or surrounding hemolymph in invertebrates) into the renal tubules to be incorporated subsequently into the urine." [GOC:mtg_25march11, GOC:yaf, PMID:25287933] is_a: GO:0003014 ! renal system process is_a: GO:0007588 ! excretion property_value: IAO:0000233 https://github.com/geneontology/go-ontology/issues/22368 xsd:anyURI created_by: bf creation_date: 2011-04-20T01:24:16Z [Term] id: GO:0035813 name: regulation of renal sodium excretion namespace: biological_process def: "Any process that modulates the amount of sodium excreted in urine over a unit of time." [GOC:mtg_25march11, GOC:yaf] is_a: GO:0044062 ! regulation of excretion created_by: bf creation_date: 2011-04-20T01:26:30Z [Term] id: GO:0035814 name: negative regulation of renal sodium excretion namespace: biological_process def: "Any process that decreases the amount of sodium excreted in urine over a unit of time." [GOC:mtg_25march11, GOC:yaf] comment: The amount of sodium excreted in urine over a unit of time can be decreased by decreasing the volume of urine produced (antidiuresis) and/or by decreasing the concentration of sodium in the urine. is_a: GO:0035813 ! regulation of renal sodium excretion created_by: bf creation_date: 2011-04-20T01:27:39Z [Term] id: GO:0035815 name: positive regulation of renal sodium excretion namespace: biological_process def: "Any process that increases the amount of sodium excreted in urine over a unit of time." [GOC:mtg_25march11, GOC:yaf] comment: The amount of sodium excreted in urine over a unit of time can be increased by increasing the volume of urine produced (diuresis) and/or by increasing the concentration of sodium in the urine. synonym: "natriuresis" BROAD [GOC:mtg_25march11] is_a: GO:0035813 ! regulation of renal sodium excretion created_by: bf creation_date: 2011-04-20T01:29:26Z [Term] id: GO:0035932 name: aldosterone secretion namespace: biological_process def: "The regulated release of aldosterone into the circulatory system. Aldosterone is a pregnane-based steroid hormone produced by the outer-section (zona glomerulosa) of the adrenal cortex in the adrenal gland, and acts on the distal tubules and collecting ducts of the kidney to cause the conservation of sodium, secretion of potassium, increased water retention, and increased blood pressure. The overall effect of aldosterone is to increase reabsorption of ions and water in the kidney." [GOC:sl] is_a: GO:0046879 ! hormone secretion relationship: part_of GO:0010876 ! lipid localization created_by: bf creation_date: 2011-07-20T01:06:24Z [Term] id: GO:0036211 name: protein modification process namespace: biological_process alt_id: GO:0006464 def: "The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification)." [GOC:bf, GOC:jl] subset: goslim_candida subset: goslim_chembl subset: goslim_generic subset: goslim_pir subset: goslim_plant subset: prokaryote_subset synonym: "cellular protein modification process" EXACT [] synonym: "process resulting in protein modification" EXACT [] synonym: "protein modification" EXACT [GOC:bf] is_a: GO:0019538 ! protein metabolic process is_a: GO:0043412 ! macromolecule modification property_value: IAO:0000233 https://github.com/geneontology/go-ontology/issues/23112 xsd:anyURI created_by: bf creation_date: 2012-04-26T01:47:12Z [Term] id: GO:0036270 name: response to diuretic namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a diuretic stimulus. A diuretic is an agent that promotes the excretion of urine through its effects on kidney function." [GOC:hp] comment: Note that this term is in the subset of terms that should not be used for direct manual annotation of gene products. It was created to be used for cross-referencing by other ontologies. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_manually_annotate is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean created_by: bf creation_date: 2012-07-09T01:26:24Z [Term] id: GO:0036271 name: response to methylphenidate namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a methylphenidate stimulus." [GOC:hp, Wikipedia:Methylphenidate] comment: Note that this term is in the subset of terms that should not be used for direct manual annotation of gene products. It was created to be used for cross-referencing by other ontologies. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_manually_annotate synonym: "response to MPD" EXACT [CHEBI:6887] synonym: "response to MPH" EXACT [CHEBI:6887] synonym: "response to ritalin" EXACT [CHEBI:6887] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean created_by: bf creation_date: 2012-07-09T01:30:57Z [Term] id: GO:0036272 name: response to gemcitabine namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a gemcitabine stimulus. Gemcitabine is a 2'-deoxycytidine having geminal fluoro substituents in the 2'-position, and is used as a drug in the treatment of various carcinomas." [GOC:hp, Wikipedia:Gemcitabine] comment: Note that this term is in the subset of terms that should not be used for direct manual annotation of gene products. It was created to be used for cross-referencing by other ontologies. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_manually_annotate synonym: "response to 2',2'-difluorodeoxycytidine" EXACT [CHEBI:175901] synonym: "response to 2'-deoxy-2',2'-difluorocytidine" EXACT [CHEBI:175901] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean created_by: bf creation_date: 2012-07-09T01:36:03Z [Term] id: GO:0036273 name: response to statin namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a statin stimulus. Statins are organooxygen compounds whose structure is related to compactin (mevastatin) and which may be used as an anticholesteremic drug due its EC:1.1.1.34/EC:1.1.1.88 (hydroxymethylglutaryl-CoA reductase) inhibitory properties." [GOC:hp] comment: Note that this term is in the subset of terms that should not be used for direct manual annotation of gene products. It was created to be used for cross-referencing by other ontologies. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_manually_annotate synonym: "response to HMG-CoA reductase inhibitor" RELATED [CHEBI:35664] synonym: "response to hydroxymethylglutaryl-CoA reductase inhibitor" RELATED [CHEBI:35664] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean created_by: bf creation_date: 2012-07-09T01:54:01Z [Term] id: GO:0036274 name: response to lapatinib namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lapatinib stimulus." [GOC:hp] comment: Note that this term is in the subset of terms that should not be used for direct manual annotation of gene products. It was created to be used for cross-referencing by other ontologies. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_manually_annotate is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean created_by: bf creation_date: 2012-07-09T02:02:26Z [Term] id: GO:0036275 name: response to 5-fluorouracil namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a 5-fluorouracil stimulus." [GOC:hp] comment: Note that this term is in the subset of terms that should not be used for direct manual annotation of gene products. It was created to be used for cross-referencing by other ontologies. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_manually_annotate synonym: "response to 5-fluoropyrimidine-2,4(1H,3H)-dione" EXACT [CHEBI:46345] synonym: "response to fluorouracil" EXACT [GOC:hp] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean created_by: bf creation_date: 2012-07-09T02:08:23Z [Term] id: GO:0036276 name: response to antidepressant namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antidepressant stimulus, a mood-stimulating drug." [GOC:hp] comment: Note that this term is in the subset of terms that should not be used for direct manual annotation of gene products. It was created to be used for cross-referencing by other ontologies. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_manually_annotate is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean created_by: bf creation_date: 2012-07-09T02:12:44Z [Term] id: GO:0036277 name: response to anticonvulsant namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an anticonvulsant stimulus, a drug used to prevent seizures or reduce their severity." [GOC:hp] comment: Note that this term is in the subset of terms that should not be used for direct manual annotation of gene products. It was created to be used for cross-referencing by other ontologies. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_manually_annotate is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean created_by: bf creation_date: 2012-07-09T02:40:12Z [Term] id: GO:0036287 name: response to iloperidone namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an iloperidone stimulus." [GOC:hp] comment: Note that this term is in the subset of terms that should not be used for direct manual annotation of gene products. It was created to be used for cross-referencing by other ontologies. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_manually_annotate is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean created_by: bf creation_date: 2012-07-16T05:01:29Z [Term] id: GO:0036288 name: response to ximelagatran namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a ximelagatran stimulus." [GOC:hp] comment: Note that this term is in the subset of terms that should not be used for direct manual annotation of gene products. It was created to be used for cross-referencing by other ontologies. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_manually_annotate is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean created_by: bf creation_date: 2012-07-16T05:03:56Z [Term] id: GO:0038023 name: signaling receptor activity namespace: molecular_function alt_id: GO:0004872 alt_id: GO:0019041 def: "Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response." [GOC:bf, GOC:signaling] subset: goslim_agr subset: goslim_chembl subset: goslim_drosophila subset: goslim_flybase_ribbon subset: goslim_metagenomics subset: goslim_mouse subset: goslim_pir subset: goslim_plant synonym: "receptor activity" BROAD [] synonym: "receptor activity involved in signal transduction" EXACT [GOC:bf] synonym: "signalling receptor activity" EXACT [] is_a: GO:0003674 ! molecular_function created_by: bf creation_date: 2011-08-01T02:45:27Z [Term] id: GO:0040012 name: regulation of locomotion namespace: biological_process def: "Any process that modulates the frequency, rate or extent of locomotion of a cell or organism." [GOC:ems] is_a: GO:0050789 ! regulation of biological process [Term] id: GO:0040013 name: negative regulation of locomotion namespace: biological_process def: "Any process that stops, prevents, or reduces the frequency, rate or extent of locomotion of a cell or organism." [GOC:go_curators] synonym: "down regulation of locomotion" EXACT [] synonym: "down-regulation of locomotion" EXACT [] synonym: "downregulation of locomotion" EXACT [] synonym: "inhibition of locomotion" NARROW [] is_a: GO:0040012 ! regulation of locomotion [Term] id: GO:0040017 name: positive regulation of locomotion namespace: biological_process def: "Any process that activates or increases the frequency, rate or extent of locomotion of a cell or organism." [GOC:go_curators] synonym: "activation of locomotion" NARROW [] synonym: "stimulation of locomotion" NARROW [] synonym: "up regulation of locomotion" EXACT [] synonym: "up-regulation of locomotion" EXACT [] synonym: "upregulation of locomotion" EXACT [] is_a: GO:0040012 ! regulation of locomotion [Term] id: GO:0042025 name: host cell nucleus namespace: cellular_component alt_id: GO:0033649 def: "A membrane-bounded organelle as it is found in the host cell in which chromosomes are housed and replicated. The host is defined as the larger of the organisms involved in a symbiotic interaction." [GOC:pamgo_curators] is_a: GO:0033646 ! host intracellular part [Term] id: GO:0042060 name: wound healing namespace: biological_process def: "The series of events that restore integrity to a damaged tissue, following an injury." [GOC:bf, PMID:15269788] subset: goslim_generic xref: MeSH:D014945 xref: Wikipedia:Wound_healing is_a: GO:0009611 ! response to wounding [Term] id: GO:0042110 name: T cell activation namespace: biological_process def: "The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific." [GOC:mgi_curators, ISBN:0781735149] synonym: "T lymphocyte activation" EXACT [] synonym: "T-cell activation" EXACT [] synonym: "T-lymphocyte activation" EXACT [] is_a: GO:0045321 ! leukocyte activation [Term] id: GO:0042116 name: macrophage activation namespace: biological_process def: "A change in morphology and behavior of a macrophage resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor." [GOC:mgi_curators, ISBN:0781735149, PMID:14506301] synonym: "macrophage polarization" EXACT [] is_a: GO:0045321 ! leukocyte activation [Term] id: GO:0042170 name: plastid membrane namespace: cellular_component def: "Either of the lipid bilayers that surround a plastid and form the plastid envelope." [GOC:mah] is_a: GO:0031090 ! organelle membrane intersection_of: GO:0016020 ! membrane intersection_of: part_of GO:0009536 ! plastid relationship: part_of GO:0009526 ! plastid envelope [Term] id: GO:0042278 name: purine nucleoside metabolic process namespace: biological_process def: "The chemical reactions and pathways involving one of a family of organic molecules consisting of a purine base covalently bonded to a sugar ribose (a ribonucleoside) or deoxyribose (a deoxyribonucleoside)." [GOC:jl, ISBN:0140512713] synonym: "purine metabolic process" BROAD [] synonym: "purine metabolism" BROAD [] synonym: "purine nucleoside metabolism" EXACT [] is_a: GO:0009116 ! nucleoside metabolic process is_a: GO:0072521 ! purine-containing compound metabolic process [Term] id: GO:0042322 name: negative regulation of circadian sleep/wake cycle, REM sleep namespace: biological_process def: "Any process that stops, prevents or reduces the duration or quality of rapid eye movement (REM) sleep." [GOC:go_curators, GOC:jl] synonym: "down regulation of circadian sleep/wake cycle, REM sleep" EXACT [] synonym: "down-regulation of circadian sleep/wake cycle, REM sleep" EXACT [] synonym: "downregulation of circadian sleep/wake cycle, REM sleep" EXACT [] synonym: "inhibition of circadian sleep/wake cycle, REM sleep" NARROW [] synonym: "negative regulation of REM sleep" EXACT [] is_a: GO:0042752 ! regulation of circadian rhythm [Term] id: GO:0042359 name: vitamin D metabolic process is_a: GO:0008202 ! steroid metabolic process [Term] id: GO:0042360 name: vitamin E metabolic process namespace: biological_process def: "The chemical reactions and pathways involving vitamin E, tocopherol, which includes a series of eight structurally similar compounds. Alpha-tocopherol is the most active form in humans and is a powerful biological antioxidant." [GOC:jl, ISBN:0198506732] synonym: "alpha-tocopherol metabolic process" NARROW [] synonym: "alpha-tocopherol metabolism" NARROW [] synonym: "tocopherol metabolic process" EXACT [] synonym: "tocopherol metabolism" EXACT [] synonym: "vitamin E metabolism" EXACT [] is_a: GO:0006766 ! vitamin metabolic process is_a: GO:0046483 ! heterocycle metabolic process is_a: GO:1901360 ! organic cyclic compound metabolic process [Term] id: GO:0042451 name: purine nucleoside biosynthetic process namespace: biological_process def: "The chemical reactions and pathways resulting in the formation of any purine nucleoside, one of a family of organic molecules consisting of a purine base covalently bonded to a sugar ribose (a ribonucleoside) or deoxyribose (a deoxyribonucleoside)." [GOC:go_curators] synonym: "purine nucleoside anabolism" EXACT [] synonym: "purine nucleoside biosynthesis" EXACT [] synonym: "purine nucleoside formation" EXACT [] synonym: "purine nucleoside synthesis" EXACT [] is_a: GO:0009163 ! nucleoside biosynthetic process is_a: GO:0042278 ! purine nucleoside metabolic process is_a: GO:0072522 ! purine-containing compound biosynthetic process [Term] id: GO:0042455 name: ribonucleoside biosynthetic process namespace: biological_process def: "The chemical reactions and pathways resulting in the formation of any ribonucleoside, a nucleoside in which purine or pyrimidine base is linked to a ribose (beta-D-ribofuranose) molecule." [GOC:jl] synonym: "ribonucleoside anabolism" EXACT [] synonym: "ribonucleoside biosynthesis" EXACT [] synonym: "ribonucleoside formation" EXACT [] synonym: "ribonucleoside synthesis" EXACT [] is_a: GO:0009119 ! ribonucleoside metabolic process is_a: GO:0009163 ! nucleoside biosynthetic process [Term] id: GO:0042476 name: odontogenesis namespace: biological_process alt_id: GO:0042477 def: "The process whose specific outcome is the progression of a tooth or teeth over time, from formation to the mature structure(s). A tooth is any hard bony, calcareous, or chitinous organ found in the mouth or pharynx of an animal and used in procuring or masticating food." [GOC:jl, GOC:mah] synonym: "odontogenesis of calcareous or chitinous tooth" NARROW [] synonym: "odontogeny" EXACT [] synonym: "odontosis" EXACT [] synonym: "tooth development" RELATED [] synonym: "tooth morphogenesis" EXACT [] xref: MeSH:D009805 xref: NCIt:C82956 xref: Wikipedia:Odontogenesis is_a: GO:0032502 ! developmental process relationship: never_in_taxon NCBITaxon:8782 relationship: part_of GO:0048513 ! animal organ development property_value: gwas:trait "true" xsd:boolean [Term] id: GO:0042538 name: hyperosmotic salinity response namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of detection of, or exposure to, an increase in the concentration of salt (particularly but not exclusively sodium and chloride ions) in the environment." [GOC:jl] synonym: "response to hyperosmotic salt stress" EXACT [] synonym: "salt tolerance" RELATED [] is_a: GO:0006970 ! response to osmotic stress [Term] id: GO:0042592 name: homeostatic process namespace: biological_process alt_id: GO:0032844 alt_id: GO:0032845 alt_id: GO:0032846 def: "Any biological process involved in the maintenance of an internal steady state." [GOC:jl, ISBN:0395825172] subset: goslim_agr subset: goslim_chembl subset: goslim_mouse synonym: "activation of homeostatic process" NARROW [] synonym: "homeostasis" EXACT [] synonym: "inhibition of homeostatic process" NARROW [] synonym: "negative regulation of homeostatic process" RELATED [] synonym: "positive regulation of homeostatic process" RELATED [] synonym: "regulation of homeostatic process" RELATED [] xref: NCIt:C25989 is_a: GO:0008150 ! biological_process [Term] id: GO:0042593 name: glucose homeostasis namespace: biological_process def: "Any process involved in the maintenance of an internal steady state of glucose within an organism or cell." [GOC:go_curators] is_a: GO:0042592 ! homeostatic process [Term] id: GO:0042630 name: behavioral response to water deprivation namespace: biological_process def: "Any process that results in a change in the behavior of an organism as a result of deprivation of water." [GOC:jl] synonym: "behavioral response to drought" EXACT [] synonym: "behavioral response to thirst" EXACT [] synonym: "behavioural response to water deprivation" EXACT [] is_a: GO:0007610 ! behavior relationship: part_of GO:0009414 ! response to water deprivation [Term] id: GO:0042747 name: circadian sleep/wake cycle, REM sleep namespace: biological_process def: "A stage in the circadian sleep cycle during which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity." [GOC:jl, ISBN:0395825172] xref: GO:0042747 is_a: GO:0007610 ! behavior [Term] id: GO:0042748 name: circadian sleep/wake cycle, non-REM sleep namespace: biological_process def: "All sleep stages in the circadian sleep/wake cycle other than REM sleep. These stages are characterized by a slowing of brain waves and other physiological functions." [GOC:jl, http://www.sleepquest.com] xref: GO:0042748 is_a: GO:0007610 ! behavior [Term] id: GO:0042752 name: regulation of circadian rhythm namespace: biological_process def: "Any process that modulates the frequency, rate or extent of a circadian rhythm. A circadian rhythm is a biological process in an organism that recurs with a regularity of approximately 24 hours." [GOC:dph, GOC:jl, GOC:tb] is_a: GO:0050789 ! regulation of biological process [Term] id: GO:0043005 name: neuron projection namespace: cellular_component def: "A prolongation or process extending from a nerve cell, e.g. an axon or dendrite." [GOC:jl, http://www.cogsci.princeton.edu/~wn/] subset: goslim_pir synonym: "nerve fiber" RELATED [GOC:dph] synonym: "neurite" NARROW [] synonym: "neuron process" EXACT [] synonym: "neuron protrusion" EXACT [NIF_Subcellular:sao250931889] synonym: "neuronal cell projection" EXACT [] xref: NIF_Subcellular:sao-867568886 xref: NIF_Subcellular:sao867568886 is_a: GO:0005575 ! cellular_component relationship: never_in_taxon NCBITaxon:4751 ! Fungi [Term] id: GO:0043084 name: penile erection namespace: biological_process def: "The hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow." [GOC:jl, Wikipedia:Penile_erection] xref: Wikipedia:Erection#Penile_erection is_a: GO:0008150 ! biological_process relationship: part_of GO:0000003 ! reproduction [Term] id: GO:0043170 name: macromolecule metabolic process namespace: biological_process alt_id: GO:0043283 alt_id: GO:0044259 def: "The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass." [GOC:mah] subset: goslim_pir synonym: "biopolymer metabolic process" EXACT [GOC:mtg_chebi_dec09] synonym: "macromolecule metabolism" EXACT [] synonym: "multicellular organismal macromolecule metabolic process" NARROW [] synonym: "organismal macromolecule metabolism" EXACT [] is_a: GO:0071704 ! organic substance metabolic process [Term] id: GO:0043209 name: myelin sheath namespace: cellular_component def: "An electrically insulating fatty layer that surrounds the axons of many neurons. It is an outgrowth of glial cells: Schwann cells supply the myelin for peripheral neurons while oligodendrocytes supply it to those of the central nervous system." [GOC:cjm, GOC:jl, NIF_Subcellular:sao593830697, Wikipedia:Myelin] synonym: "astrocyte sheath" NARROW [NIF_Subcellular:nlx_subcell_20090204] synonym: "oligodendrocyte myelin sheath" NARROW [NIF_Subcellular:sao1279474730] synonym: "Schwann cell myelin sheath" NARROW [] xref: FMA:62983 xref: MeSH:D009186 xref: NCIt:C13261 xref: NIF_Subcellular:sao-593830697 xref: NIF_Subcellular:sao593830697 xref: Wikipedia:Myelin is_a: GO:0005575 ! cellular_component [Term] id: GO:0043226 name: organelle namespace: cellular_component def: "Organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton, and prokaryotic structures such as anammoxosomes and pirellulosomes. Excludes the plasma membrane." [GOC:go_curators] subset: goslim_chembl subset: goslim_generic subset: goslim_pir subset: prokaryote_subset xref: NIF_Subcellular:sao1539965131 xref: SNOMEDCT:116194001 xref: Wikipedia:Organelle is_a: GO:0005575 ! cellular_component [Term] id: GO:0043227 name: membrane-bounded organelle namespace: cellular_component def: "Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane." [GOC:go_curators] synonym: "membrane-enclosed organelle" EXACT [] xref: NIF_Subcellular:sao414196390 is_a: GO:0043226 ! organelle [Term] id: GO:0043229 name: intracellular organelle namespace: cellular_component def: "Organized structure of distinctive morphology and function, occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane." [GOC:go_curators] subset: goslim_pir is_a: GO:0043226 ! organelle intersection_of: GO:0043226 ! organelle intersection_of: part_of GO:0005622 ! intracellular anatomical structure relationship: part_of GO:0005622 ! intracellular anatomical structure [Term] id: GO:0043230 name: extracellular organelle namespace: cellular_component def: "Organized structure of distinctive morphology and function, occurring outside the cell. Includes, for example, extracellular membrane vesicles (EMVs) and the cellulosomes of anaerobic bacteria and fungi." [GOC:jl, PMID:9914479] subset: goslim_pir is_a: GO:0043226 ! organelle [Term] id: GO:0043231 name: intracellular membrane-bounded organelle namespace: cellular_component def: "Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane." [GOC:go_curators] subset: goslim_pir synonym: "intracellular membrane-enclosed organelle" EXACT [] is_a: GO:0043227 ! membrane-bounded organelle is_a: GO:0043229 ! intracellular organelle intersection_of: GO:0043227 ! membrane-bounded organelle intersection_of: part_of GO:0005622 ! intracellular anatomical structure [Term] id: GO:0043232 name: intracellular non-membrane-bounded organelle namespace: cellular_component def: "Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane and occurring within the cell. Includes ribosomes, the cytoskeleton and chromosomes." [GOC:go_curators] subset: goslim_pir synonym: "intracellular non-membrane-enclosed organelle" EXACT [] is_a: GO:0043229 ! intracellular organelle [Term] id: GO:0043278 name: response to morphine namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a morphine stimulus. Morphine is an opioid alkaloid, isolated from opium, with a complex ring structure." [GOC:ef, GOC:jl] is_a: GO:0014072 ! response to isoquinoline alkaloid property_value: gwas:trait "true" xsd:boolean [Term] id: GO:0043400 name: cortisol secretion namespace: biological_process def: "The regulated release of cortisol, a steroid hormone that in humans is the major circulating hormone of the cortex, or outer layer, of the adrenal gland." [PMID:11027914] synonym: "hydrocortisone secretion" EXACT [CHEBI:17650] is_a: GO:0046879 ! hormone secretion relationship: part_of GO:0010876 ! lipid localization [Term] id: GO:0043412 name: macromolecule modification namespace: biological_process def: "The covalent alteration of one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule, resulting in a change in its properties." [GOC:go_curators] subset: goslim_pir is_a: GO:0043170 ! macromolecule metabolic process [Term] id: GO:0043413 name: macromolecule glycosylation namespace: biological_process def: "The covalent attachment of a glycosyl residue to one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule." [GOC:jl] is_a: GO:0043412 ! macromolecule modification is_a: GO:0070085 ! glycosylation [Term] id: GO:0043590 name: bacterial nucleoid namespace: cellular_component def: "The region of a bacterial cell to which the DNA is confined." [GOC:jl] subset: prokaryote_subset is_a: GO:0043232 ! intracellular non-membrane-bounded organelle [Term] id: GO:0043655 name: host extracellular space namespace: cellular_component def: "The space within a host but external to the plasma membrane of host cells, e.g. within host bloodstream." [GOC:cc] synonym: "extracellular space of host" EXACT [] is_a: GO:0005575 ! cellular_component [Term] id: GO:0043656 name: host intracellular region namespace: cellular_component def: "That space within the plasma membrane of a host cell." [GOC:cc] synonym: "host intracellular" EXACT [] synonym: "intracellular region of host" EXACT [] is_a: GO:0033643 ! host cell part [Term] id: GO:0043657 name: host cell namespace: cellular_component def: "A cell within a host organism. Includes the host plasma membrane and any external encapsulating structures such as the host cell wall and cell envelope." [GOC:jl] xref: NCIt:C93037 is_a: GO:0005575 ! cellular_component property_value: IAO:0000233 https://github.com/geneontology/go-ontology/issues/19800 xsd:anyURI [Term] id: GO:0044057 name: regulation of system process namespace: biological_process def: "Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by any of the organs or tissues in an organ system." [GOC:jl] is_a: GO:0050789 ! regulation of biological process [Term] id: GO:0044058 name: regulation of digestive system process namespace: biological_process def: "Any process that modulates the frequency, rate or extent of a digestive system process, a physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism." [GOC:jl] is_a: GO:0044057 ! regulation of system process [Term] id: GO:0044062 name: regulation of excretion namespace: biological_process def: "Any process that modulates the frequency, rate, or extent of excretion, the elimination by an organism of the waste products that arise as a result of metabolic activity." [GOC:jl] is_a: GO:0044057 ! regulation of system process is_a: GO:0051046 ! regulation of secretion [Term] id: GO:0044217 name: other organism part namespace: cellular_component def: "Any constituent part of a secondary organism with which the first organism is interacting." [GOC:jl] comment: Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_annotate is_a: GO:0005575 ! cellular_component created_by: jl creation_date: 2009-11-12T01:18:21Z [Term] id: GO:0044237 name: cellular metabolic process namespace: biological_process def: "The chemical reactions and pathways by which individual cells transform chemical substances." [GOC:go_curators] subset: gocheck_do_not_annotate synonym: "cellular metabolism" EXACT [] synonym: "intermediary metabolism" RELATED [GOC:mah] is_a: GO:0008152 ! metabolic process is_a: GO:0009987 ! cellular process [Term] id: GO:0044238 name: primary metabolic process namespace: biological_process def: "The chemical reactions and pathways involving those compounds which are formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism." [GOC:go_curators, http://www.metacyc.org] subset: goslim_pir synonym: "primary metabolism" EXACT [] is_a: GO:0008152 ! metabolic process [Term] id: GO:0044249 name: cellular biosynthetic process namespace: biological_process def: "The chemical reactions and pathways resulting in the formation of substances, carried out by individual cells." [GOC:jl] synonym: "cellular anabolism" EXACT [] synonym: "cellular biosynthesis" EXACT [] synonym: "cellular formation" EXACT [] synonym: "cellular synthesis" EXACT [] is_a: GO:0009058 ! biosynthetic process is_a: GO:0044237 ! cellular metabolic process [Term] id: GO:0044260 name: cellular macromolecule metabolic process namespace: biological_process alt_id: GO:0034960 def: "The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, as carried out by individual cells." [GOC:mah] synonym: "cellular biopolymer metabolic process" EXACT [GOC:mtg_chebi_dec09] synonym: "cellular macromolecule metabolism" EXACT [] is_a: GO:0043170 ! macromolecule metabolic process is_a: GO:0044237 ! cellular metabolic process [Term] id: GO:0044271 name: cellular nitrogen compound biosynthetic process namespace: biological_process def: "The chemical reactions and pathways resulting in the formation of organic and inorganic nitrogenous compounds." [GOC:jl, ISBN:0198506732] synonym: "nitrogen compound anabolism" BROAD [] synonym: "nitrogen compound biosynthesis" BROAD [] synonym: "nitrogen compound formation" BROAD [] synonym: "nitrogen compound synthesis" BROAD [] is_a: GO:0034641 ! cellular nitrogen compound metabolic process is_a: GO:0044249 ! cellular biosynthetic process [Term] id: GO:0044403 name: biological process involved in symbiotic interaction namespace: biological_process alt_id: GO:0043298 alt_id: GO:0044404 alt_id: GO:0072519 alt_id: GO:0085031 def: "A process carried out by gene products in an organism that enable the organism to engage in a symbiotic relationship, a more or less intimate association, with another organism. The various forms of symbiosis include parasitism, in which the association is disadvantageous or destructive to one of the organisms; mutualism, in which the association is advantageous, or often necessary to one or both and not harmful to either; and commensalism, in which one member of the association benefits while the other is not affected. However, mutualism, parasitism, and commensalism are often not discrete categories of interactions and should rather be perceived as a continuum of interaction ranging from parasitism to mutualism. In fact, the direction of a symbiotic interaction can change during the lifetime of the symbionts due to developmental changes as well as changes in the biotic/abiotic environment in which the interaction occurs. Microscopic symbionts are often referred to as endosymbionts." [GOC:cc, PMID:31257129] subset: goslim_chembl synonym: "commensalism" NARROW [] synonym: "host-pathogen interaction" NARROW [] synonym: "parasitism" NARROW [] synonym: "symbiosis" RELATED [] synonym: "symbiosis, encompassing mutualism through parasitism" RELATED [] synonym: "symbiotic interaction" RELATED [] synonym: "symbiotic interaction between host and organism" RELATED [] synonym: "symbiotic interaction between organisms" RELATED [] synonym: "symbiotic interaction between species" RELATED [] synonym: "symbiotic process" RELATED [] is_a: GO:0044419 ! biological process involved in interspecies interaction between organisms property_value: IAO:0000233 https://github.com/geneontology/go-ontology/issues/14807 xsd:anyURI property_value: IAO:0000233 https://github.com/geneontology/go-ontology/issues/20191 xsd:anyURI [Term] id: GO:0044419 name: biological process involved in interspecies interaction between organisms namespace: biological_process def: "Any process evolved to enable an interaction with an organism of a different species." [GOC:cc] subset: gocheck_do_not_annotate subset: goslim_candida subset: goslim_pir synonym: "interaction with another species" EXACT [] synonym: "interspecies interaction" EXACT [] synonym: "interspecies interaction between organisms" EXACT [] synonym: "interspecies interaction with other organisms" EXACT [] is_a: GO:0008150 ! biological_process relationship: never_in_taxon NCBITaxon:4895 property_value: IAO:0000233 https://github.com/geneontology/go-ontology/issues/20191 xsd:anyURI [Term] id: GO:0044421 name: obsolete extracellular region part namespace: cellular_component def: "OBSOLETE. Any constituent part of the extracellular region, the space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers constituent parts of the host cell environment outside an intracellular parasite." [GOC:jl] comment: Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_annotate synonym: "extracellular structure" RELATED [NIF_Subcellular:sao9117790637] xref: NIF_Subcellular:sao9117790637 is_obsolete: true consider: GO:0005576 [Term] id: GO:0044422 name: obsolete organelle part namespace: cellular_component def: "OBSOLETE. Any constituent part of an organelle, an organized structure of distinctive morphology and function. Includes constituent parts of the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton, but excludes the plasma membrane." [GOC:jl] comment: Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_annotate is_obsolete: true consider: GO:0043226 [Term] id: GO:0044424 name: obsolete intracellular part namespace: cellular_component def: "OBSOLETE. Any constituent part of the living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm." [GOC:jl] comment: Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_annotate is_obsolete: true consider: GO:0005622 [Term] id: GO:0044425 name: obsolete membrane part namespace: cellular_component def: "OBSOLETE. Any constituent part of a membrane, a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins." [GOC:jl] comment: Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_annotate xref: NCIt:C38627 is_obsolete: true consider: GO:0016020 [Term] id: GO:0044428 name: obsolete nuclear part namespace: cellular_component def: "OBSOLETE. Any constituent part of the nucleus, a membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated." [GOC:jl] comment: Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_annotate synonym: "nuclear subcomponent" EXACT [NIF_Subcellular:sao1499850686] synonym: "nucleus component" EXACT [] xref: NIF_Subcellular:sao1499850686 is_obsolete: true consider: GO:0005634 [Term] id: GO:0044429 name: obsolete mitochondrial part namespace: cellular_component def: "OBSOLETE. Any constituent part of a mitochondrion, a semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration." [GOC:jl] comment: Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_annotate synonym: "mitochondrial subcomponent" EXACT [NIF_Subcellular:sao666410040] synonym: "mitochondrion component" EXACT [] xref: NIF_Subcellular:sao666410040 is_obsolete: true consider: GO:0005739 [Term] id: GO:0044430 name: obsolete cytoskeletal part namespace: cellular_component def: "OBSOLETE. Any constituent part of the cytoskeleton, a cellular scaffolding or skeleton that maintains cell shape, enables some cell motion (using structures such as flagella and cilia), and plays important roles in both intra-cellular transport (e.g. the movement of vesicles and organelles) and cellular division. Includes constituent parts of intermediate filaments, microfilaments, microtubules, and the microtrabecular lattice." [GOC:jl] comment: Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_annotate synonym: "cytoskeletal element" EXACT [NIF_Subcellular:sao1635329413] synonym: "cytoskeleton component" EXACT [] xref: NIF_Subcellular:sao1635329413 is_obsolete: true consider: GO:0005856 [Term] id: GO:0044433 name: obsolete cytoplasmic vesicle part namespace: cellular_component def: "OBSOLETE. Any constituent part of cytoplasmic vesicle, a vesicle formed of membrane or protein, found in the cytoplasm of a cell." [GOC:jl] comment: Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_annotate is_obsolete: true consider: GO:0031410 [Term] id: GO:0044434 name: obsolete chloroplast part namespace: cellular_component def: "OBSOLETE. Any constituent part of a chloroplast, a chlorophyll-containing plastid with thylakoids organized into grana and frets, or stroma thylakoids, and embedded in a stroma." [GOC:jl] comment: Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_annotate is_obsolete: true consider: GO:0009507 [Term] id: GO:0044435 name: obsolete plastid part namespace: cellular_component def: "OBSOLETE. Any constituent part of a plastid, a member of a family of organelles found in the cytoplasm of plants and some protists, which are membrane-bounded and contain DNA. Plant plastids develop from a common type, the proplastid." [GOC:jl] comment: Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_annotate is_obsolete: true consider: GO:0009536 [Term] id: GO:0044444 name: obsolete cytoplasmic part namespace: cellular_component def: "OBSOLETE. Any constituent part of the cytoplasm, all of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures." [GOC:jl] comment: Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_annotate synonym: "cytoplasm component" EXACT [] is_obsolete: true consider: GO:0005737 [Term] id: GO:0044446 name: obsolete intracellular organelle part namespace: cellular_component def: "OBSOLETE. A constituent part of an intracellular organelle, an organized structure of distinctive morphology and function, occurring within the cell. Includes constituent parts of the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton but excludes the plasma membrane." [GOC:jl] comment: Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_annotate is_obsolete: true consider: GO:0043229 [Term] id: GO:0044456 name: obsolete synapse part namespace: cellular_component def: "OBSOLETE. Any constituent part of a synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell." [GOC:jl] comment: Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_annotate synonym: "synaptic component" RELATED [NIF_Subcellular:sao1784069613] xref: NIF_Subcellular:sao1784069613 is_obsolete: true consider: GO:0045202 [Term] id: GO:0044462 name: obsolete external encapsulating structure part namespace: cellular_component def: "OBSOLETE. Any constituent part of an external encapsulating structure, a structure that lies outside the plasma membrane and surrounds the entire cell. This does not include the periplasmic space but does include the outer membrane (of gram negative bacteria) or cell wall (of yeast or Gram positive bacteria)." [GOC:jl] comment: Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_annotate is_obsolete: true consider: GO:0030312 [Term] id: GO:0044464 name: obsolete cell part namespace: cellular_component def: "OBSOLETE. Any constituent part of a cell, the basic structural and functional unit of all organisms." [GOC:jl] comment: Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_annotate subset: goslim_pir synonym: "cellular subcomponent" EXACT [NIF_Subcellular:sao628508602] synonym: "protoplast" RELATED [GOC:mah] xref: NCIt:C34070 xref: NIF_Subcellular:sao628508602 is_obsolete: true [Term] id: GO:0044691 name: tooth eruption namespace: biological_process def: "The tooth development process in which the teeth enter the mouth and become visible." [Wikipedia:Tooth_eruption] xref: MeSH:D014078 xref: NCIt:C94569 xref: Wikipedia:Tooth_eruption is_a: GO:0032502 ! developmental process relationship: part_of GO:0042476 ! odontogenesis property_value: gwas:trait "true" xsd:boolean created_by: jl creation_date: 2012-08-15T14:58:17Z [Term] id: GO:0045121 name: membrane raft namespace: cellular_component def: "Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions." [PMID:16645198, PMID:20044567] synonym: "GEM domain" RELATED [] synonym: "glycolipid-enriched membrane domain" RELATED [] synonym: "lipid raft" EXACT [] xref: Wikipedia:Lipid_raft is_a: GO:0016020 ! membrane [Term] id: GO:0045184 name: establishment of protein localization namespace: biological_process def: "The directed movement of a protein to a specific location." [GOC:bf] synonym: "establishment of protein localisation" EXACT [GOC:mah] synonym: "protein positioning" EXACT [] synonym: "protein recruitment" EXACT [] is_a: GO:0008104 ! protein localization is_a: GO:0051234 ! establishment of localization relationship: part_of GO:0008104 ! protein localization [Term] id: GO:0045202 name: synapse namespace: cellular_component def: "The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane." [GOC:aruk, ISBN:0198506732, PMID:24619342, PMID:29383328, PMID:31998110] subset: goslim_agr subset: goslim_drosophila subset: goslim_flybase_ribbon subset: goslim_mouse subset: goslim_pir subset: goslim_synapse synonym: "electrotonic synapse" RELATED [NIF_Subcellular:sao1311109124] synonym: "mixed synapse" NARROW [NIF_Subcellular:sao1506103497] synonym: "synaptic junction" EXACT [] xref: NCIt:C13281 xref: NIF_Subcellular:sao914572699 xref: Wikipedia:Chemical_synapse is_a: GO:0005575 ! cellular_component [Term] id: GO:0045321 name: leukocyte activation namespace: biological_process def: "A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor." [GOC:add] synonym: "immune cell activation" EXACT [] synonym: "leucocyte activation" EXACT [] xref: Wikipedia:Immunologic_activation is_a: GO:0001775 ! cell activation [Term] id: GO:0045822 name: negative regulation of heart contraction namespace: biological_process def: "Any process that stops, prevents, or reduces the frequency, rate or extent of heart contraction." [GOC:go_curators] synonym: "down regulation of heart contraction" EXACT [] synonym: "down-regulation of heart contraction" EXACT [] synonym: "downregulation of heart contraction" EXACT [] synonym: "inhibition of heart contraction" NARROW [] synonym: "negative regulation of cardiac contraction" RELATED [] is_a: GO:0008016 ! regulation of heart contraction [Term] id: GO:0045823 name: positive regulation of heart contraction namespace: biological_process def: "Any process that activates or increases the frequency, rate or extent of heart contraction." [GOC:go_curators] synonym: "activation of heart contraction" NARROW [] synonym: "positive regulation of cardiac contraction" EXACT [] synonym: "stimulation of heart contraction" NARROW [] synonym: "up regulation of heart contraction" EXACT [] synonym: "up-regulation of heart contraction" EXACT [] synonym: "upregulation of heart contraction" EXACT [] is_a: GO:0008016 ! regulation of heart contraction [Term] id: GO:0045839 name: negative regulation of mitotic nuclear division namespace: biological_process def: "Any process that stops, prevents or reduces the rate or extent of mitosis. Mitosis is the division of the eukaryotic cell nucleus to produce two daughter nuclei that, usually, contain the identical chromosome complement to their mother." [GOC:dph, GOC:go_curators, GOC:tb] synonym: "down regulation of mitosis" EXACT [] synonym: "down-regulation of mitosis" EXACT [] synonym: "downregulation of mitosis" EXACT [] synonym: "inhibition of mitosis" NARROW [] synonym: "negative regulation of mitosis" EXACT [] is_a: GO:0007088 ! regulation of mitotic nuclear division [Term] id: GO:0046034 name: ATP metabolic process namespace: biological_process def: "The chemical reactions and pathways involving ATP, adenosine triphosphate, a universally important coenzyme and enzyme regulator." [GOC:go_curators] synonym: "ATP metabolism" EXACT [] is_a: GO:0009150 ! purine ribonucleotide metabolic process is_a: GO:0009205 ! purine ribonucleoside triphosphate metabolic process [Term] id: GO:0046128 name: purine ribonucleoside metabolic process namespace: biological_process def: "The chemical reactions and pathways involving any ribonucleoside, a nucleoside in which purine base is linked to a ribose (beta-D-ribofuranose) molecule." [GOC:ai] synonym: "purine ribonucleoside metabolism" EXACT [] is_a: GO:0009119 ! ribonucleoside metabolic process is_a: GO:0042278 ! purine nucleoside metabolic process [Term] id: GO:0046129 name: purine ribonucleoside biosynthetic process namespace: biological_process def: "The chemical reactions and pathways resulting in the formation of any purine ribonucleoside, a nucleoside in which purine base is linked to a ribose (beta-D-ribofuranose) molecule." [GOC:ai] synonym: "purine ribonucleoside anabolism" EXACT [] synonym: "purine ribonucleoside biosynthesis" EXACT [] synonym: "purine ribonucleoside formation" EXACT [] synonym: "purine ribonucleoside synthesis" EXACT [] is_a: GO:0042451 ! purine nucleoside biosynthetic process is_a: GO:0042455 ! ribonucleoside biosynthetic process is_a: GO:0046128 ! purine ribonucleoside metabolic process [Term] id: GO:0046390 name: ribose phosphate biosynthetic process namespace: biological_process def: "The chemical reactions and pathways resulting in the formation of ribose phosphate, any phosphorylated ribose sugar." [GOC:ai] synonym: "ribose phosphate anabolism" EXACT [] synonym: "ribose phosphate biosynthesis" EXACT [] synonym: "ribose phosphate formation" EXACT [] synonym: "ribose phosphate synthesis" EXACT [] is_a: GO:0019693 ! ribose phosphate metabolic process is_a: GO:0090407 ! organophosphate biosynthetic process is_a: GO:1901137 ! carbohydrate derivative biosynthetic process [Term] id: GO:0046483 name: heterocycle metabolic process namespace: biological_process def: "The chemical reactions and pathways involving heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings)." [ISBN:0198506732] subset: goslim_pir synonym: "heterocycle metabolism" EXACT [] is_a: GO:0044237 ! cellular metabolic process [Term] id: GO:0046655 name: folic acid metabolic process namespace: biological_process def: "The chemical reactions and pathways involving folic acid, pteroylglutamic acid. Folic acid is widely distributed as a member of the vitamin B complex and is essential for the synthesis of purine and pyrimidines." [ISBN:0198506732] synonym: "folate metabolic process" EXACT [] synonym: "folate metabolism" EXACT [] synonym: "folic acid metabolism" EXACT [] synonym: "vitamin B9 metabolic process" EXACT [] synonym: "vitamin B9 metabolism" EXACT [] synonym: "vitamin M metabolic process" EXACT [] synonym: "vitamin M metabolism" EXACT [] is_a: GO:0006725 ! cellular aromatic compound metabolic process is_a: GO:0006766 ! vitamin metabolic process is_a: GO:0046483 ! heterocycle metabolic process is_a: GO:1901360 ! organic cyclic compound metabolic process is_a: GO:1901564 ! organonitrogen compound metabolic process [Term] id: GO:0046677 name: response to antibiotic namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antibiotic stimulus. An antibiotic is a chemical substance produced by a microorganism which has the capacity to inhibit the growth of or to kill other microorganisms." [GOC:ai, GOC:ef] subset: goslim_chembl synonym: "antibiotic susceptibility/resistance" RELATED [] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean [Term] id: GO:0046858 name: chlorosome namespace: cellular_component def: "A large enclosure of aggregated pigment, typically bacteriochlorophyll c (BChl c), that acts as a light-harvesting antenna structure and is characteristic of green photosynthetic bacteria (e.g. Chlorobiaceae). The BChl aggregates are organized into lamellar elements by pigment-pigment rather than pigment-protein interactions. Chlorosomes also contain BChl a, carotenoids, quinones, lipids, and proteins, and are attached to the cytoplasmic membrane via a BChl a-containing protein baseplate." [ISBN:0198506732, PMID:14729689, PMID:15298919] xref: Wikipedia:Chlorosome is_a: GO:0043232 ! intracellular non-membrane-bounded organelle [Term] id: GO:0046877 name: regulation of saliva secretion namespace: biological_process def: "Any process that modulates the frequency, rate or extent of the regulated release of saliva from a cell or a tissue." [GOC:ai] is_a: GO:0044058 ! regulation of digestive system process is_a: GO:0051046 ! regulation of secretion [Term] id: GO:0046878 name: positive regulation of saliva secretion namespace: biological_process def: "Any process that activates or increases the frequency, rate or extent of the regulated release of saliva." [GOC:ai] synonym: "activation of saliva secretion" NARROW [] synonym: "stimulation of saliva secretion" NARROW [] synonym: "up regulation of saliva secretion" EXACT [] synonym: "up-regulation of saliva secretion" EXACT [] synonym: "upregulation of saliva secretion" EXACT [] is_a: GO:0046877 ! regulation of saliva secretion [Term] id: GO:0046879 name: hormone secretion namespace: biological_process def: "The regulated release of hormones, substances with a specific regulatory effect on a particular organ or group of cells." [ISBN:0198506732] is_a: GO:0032940 ! secretion by cell [Term] id: GO:0046883 name: regulation of hormone secretion namespace: biological_process def: "Any process that modulates the frequency, rate or extent of the regulated release of a hormone from a cell." [GOC:ai] is_a: GO:0050794 ! regulation of cellular process is_a: GO:0051046 ! regulation of secretion [Term] id: GO:0048046 name: apoplast namespace: cellular_component def: "The cell membranes and intracellular regions in a plant are connected through plasmodesmata, and plants may be described as having two major compartments: the living symplast and the non-living apoplast. The apoplast is external to the plasma membrane and includes cell walls, intercellular spaces and the lumen of dead structures such as xylem vessels. Water and solutes pass freely through it." [GOC:jid] xref: Wikipedia:Apoplast is_a: GO:0005575 ! cellular_component [Term] id: GO:0048103 name: somatic stem cell division namespace: biological_process def: "The self-renewing division of a somatic stem cell, a stem cell that can give rise to cell types of the body other than those of the germ-line." [GOC:jid, ISBN:0582227089] synonym: "somatic stem cell renewal" EXACT [] is_a: GO:0051301 ! cell division [Term] id: GO:0048513 name: animal organ development namespace: biological_process def: "Development of a tissue or tissues that work together to perform a specific function or functions. Development pertains to the process whose specific outcome is the progression of a structure over time, from its formation to the mature structure. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions." [GOC:dph, GOC:jid] synonym: "development of an organ" EXACT [] synonym: "organogenesis" EXACT [] xref: Wikipedia:Organogenesis is_a: GO:0032502 ! developmental process relationship: part_of GO:0048731 ! system development [Term] id: GO:0048583 name: regulation of response to stimulus namespace: biological_process def: "Any process that modulates the frequency, rate or extent of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus." [GOC:jid] comment: Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_manually_annotate is_a: GO:0050789 ! regulation of biological process [Term] id: GO:0048731 name: system development namespace: biological_process def: "The process whose specific outcome is the progression of an organismal system over time, from its formation to the mature structure. A system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a given biological process." [GOC:dph, GOC:jid] subset: goslim_mouse is_a: GO:0032502 ! developmental process [Term] id: GO:0050708 name: regulation of protein secretion namespace: biological_process def: "Any process that modulates the frequency, rate or extent of the controlled release of a protein from a cell." [GOC:ai] is_a: GO:0050794 ! regulation of cellular process is_a: GO:0051046 ! regulation of secretion [Term] id: GO:0050727 name: regulation of inflammatory response namespace: biological_process def: "Any process that modulates the frequency, rate or extent of the inflammatory response, the immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents." [GOC:ai] is_a: GO:0048583 ! regulation of response to stimulus [Term] id: GO:0050728 name: negative regulation of inflammatory response namespace: biological_process alt_id: GO:0030236 def: "Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response." [GOC:ai] synonym: "anti-inflammatory response" EXACT [] synonym: "down regulation of inflammatory response" EXACT [] synonym: "down-regulation of inflammatory response" EXACT [] synonym: "downregulation of inflammatory response" EXACT [] synonym: "inhibition of inflammatory response" NARROW [] is_a: GO:0050727 ! regulation of inflammatory response [Term] id: GO:0050729 name: positive regulation of inflammatory response namespace: biological_process def: "Any process that activates or increases the frequency, rate or extent of the inflammatory response." [GOC:ai] synonym: "activation of inflammatory response" NARROW [] synonym: "stimulation of inflammatory response" NARROW [] synonym: "up regulation of inflammatory response" EXACT [] synonym: "up-regulation of inflammatory response" EXACT [] synonym: "upregulation of inflammatory response" EXACT [] is_a: GO:0050727 ! regulation of inflammatory response [Term] id: GO:0050777 name: negative regulation of immune response namespace: biological_process def: "Any process that stops, prevents, or reduces the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus." [GOC:ai] synonym: "down regulation of immune response" EXACT [] synonym: "down-regulation of immune response" EXACT [] synonym: "downregulation of immune response" EXACT [] synonym: "inhibition of immune response" NARROW [] is_a: GO:0002682 ! regulation of immune system process is_a: GO:0048583 ! regulation of response to stimulus [Term] id: GO:0050789 name: regulation of biological process namespace: biological_process alt_id: GO:0050791 def: "Any process that modulates the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule." [GOC:ai, GOC:go_curators] subset: gocheck_do_not_annotate subset: goslim_candida subset: goslim_pir synonym: "regulation of physiological process" EXACT [] is_a: GO:0008150 ! biological_process relationship: RO:0002211 GO:0008150 ! regulates biological_process [Term] id: GO:0050794 name: regulation of cellular process namespace: biological_process alt_id: GO:0051244 def: "Any process that modulates the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level." [GOC:go_curators] subset: gocheck_do_not_annotate synonym: "regulation of cellular physiological process" EXACT [] is_a: GO:0050789 ! regulation of biological process relationship: RO:0002211 GO:0009987 ! regulates cellular process [Term] id: GO:0050865 name: regulation of cell activation namespace: biological_process def: "Any process that modulates the frequency, rate or extent of cell activation, the change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand." [GOC:ai] is_a: GO:0050794 ! regulation of cellular process [Term] id: GO:0050896 name: response to stimulus namespace: biological_process alt_id: GO:0051869 def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism." [GOC:ai, GOC:bf] comment: Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_manually_annotate subset: goslim_agr subset: goslim_flybase_ribbon subset: goslim_mouse subset: goslim_pir subset: prokaryote_subset synonym: "physiological response to stimulus" EXACT [] xref: GO:0050896 xref: SNOMEDCT:248237001 is_a: GO:0008150 ! biological_process [Term] id: GO:0050909 name: sensory perception of taste namespace: biological_process def: "The series of events required for an organism to receive a gustatory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Gustation involves the direct detection of chemical composition, usually through contact with chemoreceptor cells. This is a neurological process." [GOC:ai] synonym: "gustation" EXACT [] synonym: "sense of taste" EXACT [] synonym: "taste" EXACT [] synonym: "taste perception" EXACT [] xref: NCIt:C20620 xref: Wikipedia:Taste is_a: GO:0007600 ! sensory perception property_value: gwas:trait "true" xsd:boolean [Term] id: GO:0050913 name: sensory perception of bitter taste namespace: biological_process def: "The series of events required to receive a bitter taste stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process." [GOC:ai] synonym: "bitter taste perception" EXACT [] is_a: GO:0050909 ! sensory perception of taste property_value: gwas:trait "true" xsd:boolean [Term] id: GO:0050916 name: sensory perception of sweet taste namespace: biological_process def: "The series of events required to receive a sweet taste stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process." [GOC:ai] synonym: "sweet taste perception" EXACT [] is_a: GO:0050909 ! sensory perception of taste property_value: gwas:trait "true" xsd:boolean [Term] id: GO:0051046 name: regulation of secretion namespace: biological_process def: "Any process that modulates the frequency, rate or extent of the controlled release of a substance from a cell or a tissue." [GOC:ai] is_a: GO:0050789 ! regulation of biological process [Term] id: GO:0051180 name: vitamin transport namespace: biological_process def: "The directed movement of vitamins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A vitamin is one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body." [GOC:ai] subset: goslim_pir synonym: "vitamin or cofactor transport" BROAD [] is_a: GO:0006810 ! transport [Term] id: GO:0051181 name: obsolete cofactor transport namespace: biological_process def: "OBSOLETE. The directed movement of a cofactor into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A cofactor is a substance that is required for the activity of an enzyme or other protein." [GOC:ai] comment: 1. Making inferences in GO about compounds based on the cofactor role curated by ChEBI creates relationships that are not always true which violates ontological principles for GO; therefore we will cease making these inferences. 2. It is not meaningful to group transport processes that are not all chemically related by the fact that they may be used as a cofactor. synonym: "vitamin or cofactor transport" BROAD [] is_obsolete: true [Term] id: GO:0051186 name: obsolete cofactor metabolic process namespace: biological_process def: "OBSOLETE. The chemical reactions and pathways involving a cofactor, a substance that is required for the activity of an enzyme or other protein. Cofactors may be inorganic, such as the metal atoms zinc, iron, and copper in certain forms, or organic, in which case they are referred to as coenzymes. Cofactors may either be bound tightly to active sites or bind loosely with the substrate." [GOC:ai] comment: 1. Making inferences in GO about compounds based on the cofactor role curated by ChEBI creates relationships that are not always true which violates ontological principles for GO; therefore we will cease making these inferences. 2. It is not meaningful to group metabolic processes that are not all chemically related by the fact that they may be used as a cofactor. synonym: "cofactor metabolism" EXACT [] is_obsolete: true [Term] id: GO:0051234 name: establishment of localization namespace: biological_process def: "Any process that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation." [GOC:ai, GOC:dos] subset: goslim_agr subset: goslim_flybase_ribbon subset: goslim_mouse subset: goslim_pir synonym: "establishment of localisation" EXACT [GOC:mah] is_a: GO:0008150 ! biological_process [Term] id: GO:0051301 name: cell division namespace: biological_process def: "The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells." [GOC:di, GOC:go_curators, GOC:pr] comment: Note that this term differs from 'cytokinesis ; GO:0000910' in that cytokinesis does not include nuclear division. subset: goslim_chembl subset: goslim_drosophila subset: goslim_pir xref: MeSH:D002455 xref: Wikipedia:Cell_division is_a: GO:0009987 ! cellular process [Term] id: GO:0051384 name: response to glucocorticoid namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucocorticoid stimulus. Glucocorticoids are hormonal C21 corticosteroids synthesized from cholesterol with the ability to bind with the cortisol receptor and trigger similar effects. Glucocorticoids act primarily on carbohydrate and protein metabolism, and have anti-inflammatory effects." [GOC:ai, PMID:9884123] synonym: "response to glucocorticoid stimulus" EXACT [GOC:dos] is_a: GO:0031960 ! response to corticosteroid property_value: gwas:trait "true" xsd:boolean [Term] id: GO:0051641 name: cellular localization namespace: biological_process alt_id: GO:1902580 def: "A cellular localization process whereby a substance or cellular entity, such as a protein complex or organelle, is transported to, and/or maintained in, a specific location within a cell including the localization of substances or cellular entities to the cell membrane." [GOC:tb, GOC:vw] subset: goslim_pir synonym: "cellular localisation" EXACT [GOC:mah] synonym: "establishment and maintenance of cellular localization" EXACT [] synonym: "establishment and maintenance of localization in cell or cell membrane" EXACT [] synonym: "intracellular localization" NARROW [] synonym: "localization within cell" NARROW [] synonym: "single organism cellular localization" EXACT [GOC:TermGenie] synonym: "single-organism cellular localization" RELATED [] is_a: GO:0009987 ! cellular process created_by: jl creation_date: 2013-12-18T14:04:32Z [Term] id: GO:0051646 name: mitochondrion localization namespace: biological_process def: "Any process in which a mitochondrion or mitochondria are transported to, and/or maintained in, a specific location within the cell." [GOC:ai] synonym: "establishment and maintenance of mitochondria localization" EXACT [] synonym: "establishment and maintenance of mitochondrion localization" EXACT [] synonym: "localization of mitochondria" EXACT [] synonym: "localization of mitochondrion" EXACT [] synonym: "mitochondria localization" EXACT [] synonym: "mitochondrial localization" EXACT [] synonym: "mitochondrion localisation" EXACT [GOC:mah] is_a: GO:0008150 ! biological_process [Term] id: GO:0051649 name: establishment of localization in cell namespace: biological_process def: "Any process, occuring in a cell, that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation." [GOC:ai, GOC:dos, GOC:dph, GOC:tb] synonym: "establishment of cellular localization" RELATED [GOC:dph, GOC:tb] synonym: "establishment of intracellular localization" NARROW [] synonym: "establishment of localisation in cell" EXACT [GOC:mah] synonym: "establishment of localization within cell" NARROW [] synonym: "positioning within cell" NARROW [] is_a: GO:0051234 ! establishment of localization intersection_of: GO:0051234 ! establishment of localization intersection_of: BFO:0000066 CL:0000000 ! occurs in cell relationship: part_of GO:0051641 ! cellular localization [Term] id: GO:0051701 name: biological process involved in interaction with host namespace: biological_process alt_id: GO:0044112 alt_id: GO:0044116 alt_id: GO:0044117 alt_id: GO:0044119 alt_id: GO:0044121 alt_id: GO:0044123 alt_id: GO:0044125 def: "An interaction between two organisms living together in more or less intimate association. The term host is used for the larger (macro) of the two members of a symbiosis; the various forms of symbiosis include parasitism, commensalism and mutualism." [GOC:cc] synonym: "growth of symbiont in host" NARROW [] synonym: "growth of symbiont in host cell" NARROW [] synonym: "growth of symbiont in host organelle" NARROW [] synonym: "growth of symbiont in host vacuole" NARROW [] synonym: "interaction with host" EXACT [] is_a: GO:0044403 ! biological process involved in symbiotic interaction relationship: part_of GO:0044403 ! biological process involved in symbiotic interaction property_value: IAO:0000233 https://github.com/geneontology/go-ontology/issues/20191 xsd:anyURI [Term] id: GO:0051716 name: cellular response to stimulus namespace: biological_process def: "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus by a cell and ends with a change in state or activity or the cell." [GOC:bf, GOC:jl] comment: Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_manually_annotate is_a: GO:0009987 ! cellular process is_a: GO:0050896 ! response to stimulus [Term] id: GO:0051726 name: regulation of cell cycle namespace: biological_process alt_id: GO:0000074 alt_id: GO:0007050 alt_id: GO:0071156 alt_id: GO:0071157 alt_id: GO:0071158 alt_id: GO:0071850 def: "Any process that modulates the rate or extent of progression through the cell cycle." [GOC:ai, GOC:dph, GOC:tb] subset: goslim_yeast synonym: "arrest of mitotic cell cycle progression" NARROW [GOC:mah] synonym: "cell cycle arrest" NARROW [] synonym: "cell cycle modulation" EXACT [] synonym: "cell cycle regulation" EXACT [] synonym: "cell cycle regulator" RELATED [] synonym: "control of cell cycle progression" EXACT [] synonym: "mitotic cell cycle arrest" NARROW [] synonym: "modulation of cell cycle progression" EXACT [] synonym: "negative regulation of cell cycle arrest" NARROW [] synonym: "positive regulation of cell cycle arrest" NARROW [] synonym: "regulation of cell cycle arrest" NARROW [] synonym: "regulation of cell cycle progression" EXACT [] synonym: "regulation of progression through cell cycle" EXACT [] synonym: "tumor suppressor" RELATED [] is_a: GO:0050794 ! regulation of cellular process [Term] id: GO:0051930 name: regulation of sensory perception of pain namespace: biological_process def: "Any process that modulates the frequency, rate or extent of the sensory perception of pain, the series of events required for an organism to receive a painful stimulus, convert it to a molecular signal, and recognize and characterize the signal." [GOC:ai] is_a: GO:0031644 ! regulation of nervous system process [Term] id: GO:0052047 name: obsolete symbiotic process mediated by secreted substance namespace: biological_process def: "OBSOLETE. An interaction with a second organism mediated by a substance secreted by the first organism, where the two organisms are in a symbiotic interaction." [GOC:mtg_pamgo_17jul06] comment: This term was obsoleted because it has been misused to annotate host proteins. synonym: "interaction with other organism via secreted substance during symbiotic interaction" RELATED [GOC:dph] synonym: "interaction with other organism via secreted substance involved in symbiotic interaction" RELATED [] is_obsolete: true [Term] id: GO:0052048 name: obsolete interaction with host via secreted substance namespace: biological_process def: "OBSOLETE. An interaction with the host organism mediated by a substance secreted by the other (symbiont) organism. The host is defined as the larger of the organisms involved in a symbiotic interaction." [GOC:mtg_pamgo_17jul06] comment: This term was obsoleted because it conflates a process and the mechanism of secretion of the gene product mediating the process. synonym: "interaction with host via secreted substance during symbiotic interaction" RELATED [GOC:dph] synonym: "interaction with host via secreted substance involved in symbiotic interaction" RELATED [] is_obsolete: true [Term] id: GO:0055062 name: phosphate ion homeostasis namespace: biological_process def: "Any process involved in the maintenance of an internal steady state of phosphate ions within an organism or cell." [GOC:jid, GOC:mah] is_a: GO:0042592 ! homeostatic process [Term] id: GO:0055069 name: zinc ion homeostasis namespace: biological_process def: "Any process involved in the maintenance of an internal steady state of zinc ions within an organism or cell." [GOC:ai, GOC:jid, GOC:mah] synonym: "zinc homeostasis" BROAD [] is_a: GO:0042592 ! homeostatic process [Term] id: GO:0055074 name: calcium ion homeostasis namespace: biological_process def: "Any process involved in the maintenance of an internal steady state of calcium ions within an organism or cell." [GOC:ceb, GOC:jid, GOC:mah] synonym: "regulation of calcium ion concentration" EXACT [] is_a: GO:0042592 ! homeostatic process [Term] id: GO:0055086 name: nucleobase-containing small molecule metabolic process namespace: biological_process def: "The cellular chemical reactions and pathways involving a nucleobase-containing small molecule: a nucleobase, a nucleoside, or a nucleotide." [GOC:vw] subset: goslim_drosophila subset: goslim_generic subset: goslim_pombe subset: goslim_yeast subset: prokaryote_subset synonym: "nucleobase, nucleoside and nucleotide metabolic process" RELATED [] synonym: "nucleobase, nucleoside and nucleotide metabolism" EXACT [] xref: Reactome:REACT_100770 xref: Reactome:REACT_105851 xref: Reactome:REACT_107755 xref: Reactome:REACT_107894 xref: Reactome:REACT_116039 xref: Reactome:REACT_1698 xref: Reactome:REACT_28046 xref: Reactome:REACT_29205 xref: Reactome:REACT_29767 xref: Reactome:REACT_31512 xref: Reactome:REACT_33967 xref: Reactome:REACT_77113 xref: Reactome:REACT_78257 xref: Reactome:REACT_82673 xref: Reactome:REACT_82902 xref: Reactome:REACT_82978 xref: Reactome:REACT_83845 xref: Reactome:REACT_86759 xref: Reactome:REACT_90903 xref: Reactome:REACT_96600 xref: Reactome:REACT_97332 xref: Reactome:REACT_99343 is_a: GO:0006139 ! nucleobase-containing compound metabolic process [Term] id: GO:0060004 name: reflex namespace: biological_process def: "An automatic response to a stimulus beginning with a nerve impulse from a receptor and ending with the action of an effector such as a gland or a muscle. Signaling never reaches a level of consciousness." [GOC:dph, ISBN:0877797099] xref: Wikipedia:Reflex is_a: GO:0050896 ! response to stimulus [Term] id: GO:0060073 name: micturition namespace: biological_process def: "The regulation of body fluids process in which parasympathetic nerves stimulate the bladder wall muscle to contract and expel urine from the body." [GOC:dph] synonym: "urination" EXACT [] synonym: "urine voiding" EXACT [] xref: SNOMEDCT:28278009 xref: Wikipedia:Urination is_a: GO:0003014 ! renal system process is_a: GO:0007588 ! excretion [Term] id: GO:0060087 name: relaxation of vascular associated smooth muscle namespace: biological_process alt_id: GO:1905657 alt_id: GO:1905658 alt_id: GO:1905659 def: "A negative regulation of smooth muscle contraction resulting in relaxation of vascular smooth muscle. The relaxation is mediated by a decrease in the phosphorylation state of myosin light chain. This can be achieved by removal of calcium from the cytoplasm to the sarcoplasmic reticulum lumen through the action of Ca2+ ATPases leading to a decrease myosin light chain kinase activity, and through calcium-independent pathways leading to a increase in myosin light chain phosphatase activity." [GO_REF:0000058, GOC:BHF, GOC:BHF_miRNA, GOC:dph, GOC:rph, GOC:TermGenie, PMID:15867178, PMID:19996365, PMID:27389411] synonym: "negative regulation of relaxation of vascular smooth muscle" RELATED [] synonym: "positive regulation of relaxation of vascular smooth muscle" RELATED [] synonym: "regulation of relaxation of vascular smooth muscle" RELATED [] synonym: "relaxation of vascular smooth muscle" EXACT [] synonym: "vascular smooth muscle relaxation" EXACT [] is_a: GO:0003012 ! muscle system process is_a: GO:0006937 ! regulation of muscle contraction [Term] id: GO:0060278 name: regulation of ovulation namespace: biological_process def: "Any process that modulates the frequency, rate or extent of ovulation, the release of a mature ovum/oocyte from an ovary." [GOC:dph, GOC:kmv, GOC:tb] is_a: GO:0050789 ! regulation of biological process [Term] id: GO:0060279 name: positive regulation of ovulation namespace: biological_process def: "Any process that activates or increases the frequency, rate or extent of ovulation, the release of a mature ovum/oocyte from an ovary." [GOC:dph, GOC:kmv, GOC:tb] is_a: GO:0060278 ! regulation of ovulation property_value: gwas:trait "true" xsd:boolean [Term] id: GO:0060453 name: regulation of gastric acid secretion namespace: biological_process def: "Any process that modulates the rate frequency or extent of gastric secretion. Gastric secretion is the regulated release of gastric acid (hydrochloric acid) by parietal or oxyntic cells during digestion." [GOC:dph, GOC:tb] is_a: GO:0044058 ! regulation of digestive system process is_a: GO:0051046 ! regulation of secretion [Term] id: GO:0060454 name: positive regulation of gastric acid secretion namespace: biological_process def: "Any process that increases the rate frequency or extent of gastric secretion. Gastric secretion is the regulated release of gastric acid (hydrochloric acid) by parietal or oxyntic cells during digestion." [GOC:dph, GOC:tb] is_a: GO:0060453 ! regulation of gastric acid secretion [Term] id: GO:0060455 name: negative regulation of gastric acid secretion namespace: biological_process def: "Any process that decreases the rate frequency or extent of gastric secretion. Gastric secretion is the regulated release of gastric acid (hydrochloric acid) by parietal or oxyntic cells during digestion." [GOC:dph, GOC:tb] is_a: GO:0060453 ! regulation of gastric acid secretion [Term] id: GO:0061041 name: regulation of wound healing namespace: biological_process def: "Any process that modulates the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury." [GOC:BHF, GOC:dph] is_a: GO:0048583 ! regulation of response to stimulus created_by: dph creation_date: 2010-02-25T10:14:37Z [Term] id: GO:0061042 name: vascular wound healing namespace: biological_process def: "Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels and contribute to the series of events that restore integrity to damaged vasculature." [GOC:BHF, GOC:dph] is_a: GO:0032502 ! developmental process relationship: part_of GO:0042060 ! wound healing created_by: dph creation_date: 2010-02-25T10:18:26Z [Term] id: GO:0061045 name: negative regulation of wound healing namespace: biological_process def: "Any process that decreases the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury." [GOC:dph] is_a: GO:0061041 ! regulation of wound healing created_by: dph creation_date: 2010-02-25T10:33:30Z [Term] id: GO:0061476 name: response to anticoagulant namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an anticoagulant stimulus." [GOC:dph] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean created_by: dph creation_date: 2012-11-07T09:07:00Z [Term] id: GO:0061477 name: response to aromatase inhibitor namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an aromatase inhibitor stimulus." [GOC:dph] is_a: EFO:0007613 ! response to endocrine therapy property_value: gwas:trait "true" xsd:boolean created_by: dph creation_date: 2012-11-07T09:08:36Z [Term] id: GO:0061478 name: response to platelet aggregation inhibitor namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a platelet aggregation inhibitor stimulus." [GOC:dph] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean created_by: dph creation_date: 2012-11-07T09:09:37Z [Term] id: GO:0061479 name: response to reverse transcriptase inhibitor namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a reverse transcriptase inhibitor stimulus." [GOC:dph] is_a: GO:0046677 ! response to antibiotic property_value: gwas:trait "true" xsd:boolean created_by: dph creation_date: 2012-11-07T09:10:51Z [Term] id: GO:0061533 name: norepinephrine secretion, neurotransmission namespace: biological_process def: "The regulated release of norepinephrine by a cell, in which the norepinephrine acts as a neurotransmitter." [GOC:dph] synonym: "noradrenaline secretion, neurotransmission" EXACT [GOC:dph] is_a: GO:0032940 ! secretion by cell is_a: GO:0051649 ! establishment of localization in cell created_by: dph creation_date: 2013-06-21T16:05:08Z [Term] id: GO:0065010 name: extracellular membrane-bounded organelle namespace: cellular_component def: "Organized structure of distinctive morphology and function, bounded by a lipid bilayer membrane and occurring outside the cell." [GOC:isa_complete] synonym: "extracellular membrane-enclosed organelle" EXACT [] is_a: GO:0043227 ! membrane-bounded organelle is_a: GO:0043230 ! extracellular organelle [Term] id: GO:0070062 name: extracellular exosome namespace: cellular_component def: "A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm." [GOC:BHF, GOC:mah, GOC:vesicles, PMID:15908444, PMID:17641064, PMID:19442504, PMID:19498381, PMID:22418571, PMID:24009894] synonym: "exosome" EXACT [GOC:pr] synonym: "extracellular vesicular exosome" EXACT [GOC:vesicles] is_a: GO:0065010 ! extracellular membrane-bounded organelle [Term] id: GO:0070085 name: glycosylation namespace: biological_process def: "The covalent attachment and further modification of carbohydrate residues to a substrate molecule." [GOC:hjd, GOC:mah] xref: MeSH:D006031 xref: NCIt:C21034 xref: Wikipedia:Glycosylation is_a: GO:0008152 ! metabolic process [Term] id: GO:0070092 name: regulation of glucagon secretion namespace: biological_process def: "Any process that modulates the frequency, rate or extent of the regulated release of glucagon." [GOC:BHF, GOC:mah] is_a: GO:0046883 ! regulation of hormone secretion [Term] id: GO:0070094 name: positive regulation of glucagon secretion namespace: biological_process def: "Any process that activates or increases the frequency, rate or extent of the regulated release of glucagon." [GOC:BHF, GOC:mah] synonym: "activation of glucagon secretion" NARROW [] synonym: "stimulation of glucagon secretion" NARROW [] synonym: "up regulation of glucagon secretion" EXACT [] synonym: "up-regulation of glucagon secretion" EXACT [] synonym: "upregulation of glucagon secretion" EXACT [] is_a: GO:0070092 ! regulation of glucagon secretion [Term] id: GO:0070527 name: platelet aggregation namespace: biological_process def: "The adhesion of one platelet to one or more other platelets via adhesion molecules." [GOC:BHF, GOC:vk] synonym: "blood platelet aggregation" EXACT [CL:0000233] synonym: "thrombocyte aggregation" RELATED [CL:0000233] xref: MeSH:D010974 xref: SNOMEDCT:60649002 is_a: GO:0009987 ! cellular process relationship: IAO:0000136 CL:0000233 ! is_about platelet relationship: part_of GO:0030168 ! platelet activation property_value: gwas:trait "true" xsd:boolean [Term] id: GO:0071214 name: cellular response to abiotic stimulus namespace: biological_process def: "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an abiotic (non-living) stimulus." [GOC:mah] comment: Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_manually_annotate synonym: "cellular response to abiotic stress" NARROW [GOC:mah] is_a: GO:0009628 ! response to abiotic stimulus is_a: GO:0051716 ! cellular response to stimulus created_by: mah creation_date: 2009-12-03T01:02:11Z [Term] id: GO:0071467 name: cellular response to pH namespace: biological_process def: "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a pH stimulus. pH is a measure of the acidity or basicity of an aqueous solution." [GOC:mah, Wikipedia:PH] is_a: GO:0071214 ! cellular response to abiotic stimulus created_by: mah creation_date: 2009-12-18T11:41:54Z [Term] id: GO:0071704 name: organic substance metabolic process namespace: biological_process def: "The chemical reactions and pathways involving an organic substance, any molecular entity containing carbon." [GOC:mah] synonym: "organic molecular entity metabolic process" EXACT [] synonym: "organic molecular entity metabolism" EXACT [] synonym: "organic substance metabolism" EXACT [] is_a: GO:0008152 ! metabolic process created_by: mah creation_date: 2010-03-08T03:32:18Z [Term] id: GO:0071944 name: cell periphery namespace: cellular_component def: "The part of a cell encompassing the cell cortex, the plasma membrane, and any external encapsulating structures." [GOC:mah] subset: goslim_flybase_ribbon is_a: GO:0005575 ! cellular_component created_by: mah creation_date: 2010-10-04T01:51:47Z [Term] id: GO:0072521 name: purine-containing compound metabolic process namespace: biological_process def: "The chemical reactions and pathways involving a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof." [GOC:mah] synonym: "purine and derivative metabolic process" EXACT [] synonym: "purine-containing compound metabolism" EXACT [GOC:mah] is_a: GO:0006725 ! cellular aromatic compound metabolic process is_a: GO:0034641 ! cellular nitrogen compound metabolic process is_a: GO:0046483 ! heterocycle metabolic process is_a: GO:1901360 ! organic cyclic compound metabolic process is_a: GO:1901564 ! organonitrogen compound metabolic process created_by: mah creation_date: 2011-01-04T03:03:59Z [Term] id: GO:0072522 name: purine-containing compound biosynthetic process namespace: biological_process def: "The chemical reactions and pathways resulting in the formation of a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof." [GOC:mah] synonym: "purine and derivative biosynthetic process" EXACT [] synonym: "purine-containing compound anabolism" EXACT [GOC:mah] synonym: "purine-containing compound biosynthesis" EXACT [GOC:mah] synonym: "purine-containing compound formation" EXACT [GOC:mah] synonym: "purine-containing compound synthesis" EXACT [GOC:mah] is_a: GO:0018130 ! heterocycle biosynthetic process is_a: GO:0019438 ! aromatic compound biosynthetic process is_a: GO:0044271 ! cellular nitrogen compound biosynthetic process is_a: GO:0072521 ! purine-containing compound metabolic process is_a: GO:1901362 ! organic cyclic compound biosynthetic process is_a: GO:1901566 ! organonitrogen compound biosynthetic process created_by: mah creation_date: 2011-01-04T03:15:29Z [Term] id: GO:0072710 name: response to hydroxyurea namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hydroxyurea stimulus." [GOC:mah] synonym: "response to HU" EXACT [GOC:mah] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean created_by: mah creation_date: 2012-04-11T04:15:42Z [Term] id: GO:0072718 name: response to cisplatin namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cisplatin stimulus." [GOC:mah] xref: GO:0072718 is_a: EFO:0004647 ! response to platinum based chemotherapy relationship: IAO:0000136 CHEBI:27899 ! is_about cisplatin property_value: gwas:trait "true" xsd:boolean created_by: mah creation_date: 2012-04-30T11:31:05Z [Term] id: GO:0072758 name: response to topoisomerase inhibitor namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a topoisomerase inhibitor stimulus." [GOC:mah] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean created_by: mah creation_date: 2012-11-09T11:34:51Z [Term] id: GO:0090257 name: regulation of muscle system process namespace: biological_process def: "Any process that modulates the frequency, rate or extent of a muscle system process, a multicellular organismal process carried out by any of the organs or tissues in a muscle system." [GOC:dph, GOC:tb] is_a: GO:0044057 ! regulation of system process created_by: tb creation_date: 2010-02-03T11:48:13Z [Term] id: GO:0090330 name: regulation of platelet aggregation namespace: biological_process def: "Any process that modulates the rate, frequency or extent of platelet aggregation. Platelet aggregation is the adhesion of one platelet to one or more other platelets via adhesion molecules." [GOC:dph, GOC:tb] is_a: GO:0010543 ! regulation of platelet activation is_a: GO:0030155 ! regulation of cell adhesion created_by: tb creation_date: 2010-05-14T10:46:08Z [Term] id: GO:0090331 name: negative regulation of platelet aggregation namespace: biological_process def: "Any process that decreases the rate, frequency or extent of platelet aggregation. Platelet aggregation is the adhesion of one platelet to one or more other platelets via adhesion molecules." [GOC:BHF] synonym: "platelet disaggregation" NARROW [GOC:dph, PMID:12871378] is_a: GO:0061045 ! negative regulation of wound healing is_a: GO:0090330 ! regulation of platelet aggregation created_by: tb creation_date: 2010-05-14T10:46:08Z [Term] id: GO:0090407 name: organophosphate biosynthetic process namespace: biological_process def: "The chemical reactions and pathways resulting in the biosynthesis of deoxyribose phosphate, the phosphorylated sugar 2-deoxy-erythro-pentose." [GOC:chem_mtg] is_a: GO:0019637 ! organophosphate metabolic process is_a: GO:1901576 ! organic substance biosynthetic process created_by: tb creation_date: 2011-02-26T02:22:41Z [Term] id: GO:0097327 name: response to antineoplastic agent namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antineoplastic agent stimulus. An antineoplastic agent is a substance that inhibits or prevents the proliferation of neoplasms." [GOC:pr] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean created_by: pr creation_date: 2012-06-12T10:48:28Z [Term] id: GO:0097328 name: response to carboplatin namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carboplatin stimulus." [GOC:pr] is_a: EFO:0004647 ! response to platinum based chemotherapy property_value: gwas:trait "true" xsd:boolean created_by: pr creation_date: 2012-06-12T10:50:34Z [Term] id: GO:0097329 name: response to antimetabolite namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antimetabolite stimulus. An antimetabolite is a substance which is structurally similar to a metabolite but which competes with it or replaces it, and so prevents or reduces its normal utilization." [GOC:pr] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean created_by: pr creation_date: 2012-06-12T10:52:01Z [Term] id: GO:0097330 name: response to 5-fluoro-2'-deoxyuridine namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a 5-fluoro-2'-deoxyuridine stimulus. 5-fluoro-2'-deoxyuridine is a pyrimidine 2'-deoxyribonucleoside compound having 5-fluorouracil as the nucleobase; it is used to treat hepatic metastases of gastrointestinal adenocarcinomas and for palliation in malignant neoplasms of the liver and gastrointestinal tract." [GOC:pr] is_a: GO:0050896 ! response to stimulus created_by: pr creation_date: 2012-06-12T10:53:35Z [Term] id: GO:0097331 name: response to cytarabine namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytarabine stimulus." [GOC:pr] is_a: GO:0050896 ! response to stimulus relationship: IAO:0000136 CHEBI:28680 ! is_about cytarabine created_by: pr creation_date: 2012-06-12T10:55:29Z [Term] id: GO:0097332 name: response to antipsychotic drug namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antipsychotic drug stimulus. Antipsychotic drugs are agents that control agitated psychotic behaviour, alleviate acute psychotic states, reduce psychotic symptoms, and exert a quieting effect." [GOC:pr] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean created_by: pr creation_date: 2012-06-12T10:58:13Z [Term] id: GO:0097333 name: response to olanzapine namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an olanzapine stimulus." [GOC:pr] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean created_by: pr creation_date: 2012-06-12T11:00:04Z [Term] id: GO:0097334 name: response to perphenazine namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a perphenazine stimulus. Perphenazine is a phenothiazine derivative having a chloro substituent at the 2-position and a 3-[4-(2-hydroxyethyl)piperazin-1-yl]propyl group at the N-10 position." [GOC:pr] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean created_by: pr creation_date: 2012-06-12T11:01:14Z [Term] id: GO:0097335 name: response to quetiapine namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a quetiapine stimulus." [GOC:pr] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean created_by: pr creation_date: 2012-06-12T11:03:22Z [Term] id: GO:0097336 name: response to risperidone namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a risperidone stimulus." [GOC:pr] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean created_by: pr creation_date: 2012-06-12T11:04:31Z [Term] id: GO:0097337 name: response to ziprasidone namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a ziprasidone stimulus. Ziprasidone is a piperazine compound having 1,2-benzothiazol-3-yl- and 2-(6-chloro-1,3-dihydro-2-oxindol-5-yl)ethyl substituents attached to the nitrogen atoms." [GOC:pr] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean created_by: pr creation_date: 2012-06-12T11:05:31Z [Term] id: GO:0097338 name: response to clozapine namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a clozapine stimulus." [GOC:pr] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean created_by: pr creation_date: 2012-06-12T11:07:01Z [Term] id: GO:0097366 name: response to bronchodilator namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a bronchodilator stimulus. A bronchodilator is a chemical that causes an increase in the expansion of a bronchus or bronchial tubes." [GOC:hp] comment: Note that this term is in the subset of terms that should not be used for direct manual annotation of gene products. It was created to be used for cross-referencing by other ontologies. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_manually_annotate synonym: "response to bronchodilator agent" EXACT [] synonym: "response to broncholytic agent" RELATED [] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean created_by: pr creation_date: 2012-08-01T16:13:31Z [Term] id: GO:0098900 name: regulation of action potential namespace: biological_process def: "Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination. This typically occurs via modulation of the activity or expression of voltage-gated ion channels." [GOC:dos, GOC:dph, GOC:go_curators, GOC:tb, ISBN:978-0-07-139011-8] comment: The ion channels through which current flows during an action potential should be annotated to the process 'action potential'. Gene products involved in modulating the characteristics of an action potential via changing the expression levels or the activity of these channels (e.g. modulating their kinetics or voltage sensitivity) should be annotated to this regulation term. is_a: GO:0050789 ! regulation of biological process [Term] id: GO:0098901 name: regulation of cardiac muscle cell action potential namespace: biological_process def: "Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination in a cardiac muscle cell. This typically occurs via modulation of the activity or expression of voltage-gated ion channels." [GOC:dos, GOC:mtg_cardiac_conduct_nov11] is_a: GO:0098900 ! regulation of action potential [Term] id: GO:0120060 name: regulation of gastric emptying namespace: biological_process def: "Any process that modulates the frequency, rate or extent of any gastric emptying process, the process in which the liquid and liquid-suspended solid contents of the stomach exit through the pylorus into the duodenum." [GOC:sl, PMID:15890336] synonym: "regulation of small bowel emptying" EXACT [] synonym: "regulation of small intestine emptying" EXACT [] is_a: GO:0044058 ! regulation of digestive system process property_value: IAO:0000233 https://github.com/geneontology/go-ontology/issues/13607 xsd:anyURI created_by: krc creation_date: 2017-06-13T21:47:16Z [Term] id: GO:0120061 name: negative regulation of gastric emptying namespace: biological_process def: "Any process that decreases the frequency, rate or extent of any gastric emptying process, the process in which the liquid and liquid-suspended solid contents of the stomach exit through the pylorus into the duodenum." [GOC:sl, PMID:15890336] is_a: GO:0120060 ! regulation of gastric emptying property_value: IAO:0000233 https://github.com/geneontology/go-ontology/issues/13607 xsd:anyURI created_by: krc creation_date: 2017-06-13T21:54:49Z [Term] id: GO:0120062 name: positive regulation of gastric emptying namespace: biological_process def: "Any process that increases the frequency, rate or extent of any gastric emptying process, the process in which the liquid and liquid-suspended solid contents of the stomach exit through the pylorus into the duodenum." [GOC:sl, PMID:15890336] is_a: GO:0120060 ! regulation of gastric emptying property_value: IAO:0000233 https://github.com/geneontology/go-ontology/issues/13607 xsd:anyURI created_by: krc creation_date: 2017-06-13T21:55:08Z [Term] id: GO:1900133 name: regulation of renin secretion into blood stream namespace: biological_process def: "Any process that modulates the frequency, rate or extent of renin secretion into blood stream." [GOC:TermGenie] synonym: "regulation of renin release into blood stream" EXACT [GOC:TermGenie] is_a: GO:0044057 ! regulation of system process is_a: GO:0050708 ! regulation of protein secretion created_by: rph creation_date: 2012-02-27T10:32:01Z [Term] id: GO:1900134 name: negative regulation of renin secretion into blood stream namespace: biological_process def: "Any process that stops, prevents or reduces the frequency, rate or extent of renin secretion into blood stream." [GOC:TermGenie] synonym: "down regulation of renin release into blood stream" EXACT [GOC:TermGenie] synonym: "down regulation of renin secretion into blood stream" EXACT [GOC:TermGenie] synonym: "down-regulation of renin release into blood stream" EXACT [GOC:TermGenie] synonym: "down-regulation of renin secretion into blood stream" EXACT [GOC:TermGenie] synonym: "downregulation of renin release into blood stream" EXACT [GOC:TermGenie] synonym: "downregulation of renin secretion into blood stream" EXACT [GOC:TermGenie] synonym: "inhibition of renin release into blood stream" NARROW [GOC:TermGenie] synonym: "inhibition of renin secretion into blood stream" NARROW [GOC:TermGenie] synonym: "negative regulation of renin release into blood stream" EXACT [GOC:TermGenie] is_a: GO:1900133 ! regulation of renin secretion into blood stream created_by: rph creation_date: 2012-02-27T10:32:05Z [Term] id: GO:1900135 name: positive regulation of renin secretion into blood stream namespace: biological_process def: "Any process that activates or increases the frequency, rate or extent of renin secretion into blood stream." [GOC:TermGenie] synonym: "activation of renin release into blood stream" NARROW [GOC:TermGenie] synonym: "activation of renin secretion into blood stream" NARROW [GOC:TermGenie] synonym: "positive regulation of renin release into blood stream" EXACT [GOC:TermGenie] synonym: "up regulation of renin release into blood stream" EXACT [GOC:TermGenie] synonym: "up regulation of renin secretion into blood stream" EXACT [GOC:TermGenie] synonym: "up-regulation of renin release into blood stream" EXACT [GOC:TermGenie] synonym: "up-regulation of renin secretion into blood stream" EXACT [GOC:TermGenie] synonym: "upregulation of renin release into blood stream" EXACT [GOC:TermGenie] synonym: "upregulation of renin secretion into blood stream" EXACT [GOC:TermGenie] is_a: GO:1900133 ! regulation of renin secretion into blood stream created_by: rph creation_date: 2012-02-27T10:32:08Z [Term] id: GO:1901135 name: carbohydrate derivative metabolic process namespace: biological_process def: "The chemical reactions and pathways involving carbohydrate derivative." [GOC:TermGenie] subset: goslim_agr subset: goslim_generic subset: goslim_mouse subset: prokaryote_subset synonym: "carbohydrate derivative metabolism" EXACT [GOC:TermGenie] is_a: GO:0071704 ! organic substance metabolic process created_by: bf creation_date: 2012-07-12T04:05:09Z [Term] id: GO:1901137 name: carbohydrate derivative biosynthetic process namespace: biological_process def: "The chemical reactions and pathways resulting in the formation of carbohydrate derivative." [GOC:TermGenie] synonym: "carbohydrate derivative anabolism" EXACT [GOC:TermGenie] synonym: "carbohydrate derivative biosynthesis" EXACT [GOC:TermGenie] synonym: "carbohydrate derivative formation" EXACT [GOC:TermGenie] synonym: "carbohydrate derivative synthesis" EXACT [GOC:TermGenie] is_a: GO:1901135 ! carbohydrate derivative metabolic process is_a: GO:1901576 ! organic substance biosynthetic process created_by: bf creation_date: 2012-07-12T04:05:39Z [Term] id: GO:1901293 name: nucleoside phosphate biosynthetic process namespace: biological_process def: "The chemical reactions and pathways resulting in the formation of a nucleoside phosphate." [GOC:TermGenie] synonym: "nucleoside phosphate anabolism" EXACT [GOC:TermGenie] synonym: "nucleoside phosphate biosynthesis" EXACT [GOC:TermGenie] synonym: "nucleoside phosphate formation" EXACT [GOC:TermGenie] synonym: "nucleoside phosphate synthesis" EXACT [GOC:TermGenie] is_a: GO:0006753 ! nucleoside phosphate metabolic process is_a: GO:0034654 ! nucleobase-containing compound biosynthetic process is_a: GO:0090407 ! organophosphate biosynthetic process created_by: bf creation_date: 2012-08-20T12:33:45Z [Term] id: GO:1901360 name: organic cyclic compound metabolic process namespace: biological_process def: "The chemical reactions and pathways involving organic cyclic compound." [GOC:TermGenie] synonym: "organic cyclic compound metabolism" EXACT [GOC:TermGenie] is_a: GO:0071704 ! organic substance metabolic process created_by: bf creation_date: 2012-09-14T09:03:51Z [Term] id: GO:1901362 name: organic cyclic compound biosynthetic process namespace: biological_process def: "The chemical reactions and pathways resulting in the formation of organic cyclic compound." [GOC:TermGenie] synonym: "organic cyclic compound anabolism" EXACT [GOC:TermGenie] synonym: "organic cyclic compound biosynthesis" EXACT [GOC:TermGenie] synonym: "organic cyclic compound formation" EXACT [GOC:TermGenie] synonym: "organic cyclic compound synthesis" EXACT [GOC:TermGenie] is_a: GO:1901360 ! organic cyclic compound metabolic process is_a: GO:1901576 ! organic substance biosynthetic process created_by: bf creation_date: 2012-09-14T09:05:22Z [Term] id: GO:1901554 name: response to paracetamol namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a paracetamol stimulus." [GOC:TermGenie] synonym: "response to acetaminophen" EXACT [] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean created_by: hp creation_date: 2012-11-02T09:43:23Z [Term] id: GO:1901555 name: obsolete response to paclitaxel namespace: biological_process def: "OBSOLETE. Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a paclitaxel stimulus." [GOC:TermGenie] comment: This term was obsoleted because it represents a response to xenobiotic stimulus, and GO terms are not created for every xenobiotic. property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000233 https://github.com/geneontology/go-ontology/issues/21750 xsd:anyURI is_obsolete: true replaced_by: GO:0009410 created_by: hp creation_date: 2012-11-02T09:46:08Z [Term] id: GO:1901556 name: response to candesartan namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a candesartan stimulus." [GOC:TermGenie] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean created_by: hp creation_date: 2012-11-02T09:46:13Z [Term] id: GO:1901557 name: response to fenofibrate namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a fenofibrate stimulus." [GOC:TermGenie] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean created_by: hp creation_date: 2012-11-02T09:46:20Z [Term] id: GO:1901558 name: response to metformin namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a metformin stimulus." [GOC:TermGenie] is_a: GO:0050896 ! response to stimulus relationship: IAO:0000136 CHEBI:6801 ! is_about metformin property_value: gwas:trait "true" xsd:boolean created_by: hp creation_date: 2012-11-02T09:46:24Z [Term] id: GO:1901559 name: response to ribavirin namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a ribavirin stimulus." [GOC:TermGenie] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean created_by: hp creation_date: 2012-11-02T09:46:28Z [Term] id: GO:1901563 name: response to camptothecin namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a camptothecin stimulus." [GOC:TermGenie] synonym: "response to CPT" EXACT [GOC:mah] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean created_by: mah creation_date: 2012-11-02T15:32:45Z [Term] id: GO:1901564 name: organonitrogen compound metabolic process namespace: biological_process def: "The chemical reactions and pathways involving organonitrogen compound." [GOC:pr, GOC:TermGenie] synonym: "organonitrogen compound metabolism" EXACT [GOC:TermGenie] is_a: GO:0006807 ! nitrogen compound metabolic process is_a: GO:0071704 ! organic substance metabolic process created_by: pr creation_date: 2012-11-04T15:17:52Z [Term] id: GO:1901566 name: organonitrogen compound biosynthetic process namespace: biological_process def: "The chemical reactions and pathways resulting in the formation of organonitrogen compound." [GOC:pr, GOC:TermGenie] synonym: "organonitrogen compound anabolism" EXACT [GOC:TermGenie] synonym: "organonitrogen compound biosynthesis" EXACT [GOC:TermGenie] synonym: "organonitrogen compound formation" EXACT [GOC:TermGenie] synonym: "organonitrogen compound synthesis" EXACT [GOC:TermGenie] is_a: GO:1901564 ! organonitrogen compound metabolic process is_a: GO:1901576 ! organic substance biosynthetic process created_by: pr creation_date: 2012-11-04T15:18:00Z [Term] id: GO:1901576 name: organic substance biosynthetic process namespace: biological_process def: "The chemical reactions and pathways resulting in the formation of an organic substance, any molecular entity containing carbon." [GOC:pr, GOC:TermGenie] synonym: "organic molecular entity anabolism" EXACT [GOC:TermGenie] synonym: "organic molecular entity biosynthesis" EXACT [GOC:TermGenie] synonym: "organic molecular entity biosynthetic process" EXACT [] synonym: "organic molecular entity formation" EXACT [GOC:TermGenie] synonym: "organic molecular entity synthesis" EXACT [GOC:TermGenie] synonym: "organic substance anabolism" EXACT [] synonym: "organic substance biosynthesis" EXACT [] synonym: "organic substance formation" EXACT [] synonym: "organic substance synthesis" EXACT [] is_a: GO:0009058 ! biosynthetic process is_a: GO:0071704 ! organic substance metabolic process created_by: pr creation_date: 2012-11-05T11:04:40Z [Term] id: GO:1901657 name: glycosyl compound metabolic process namespace: biological_process def: "The chemical reactions and pathways involving glycosyl compound." [GOC:pr, GOC:TermGenie] synonym: "glycosyl compound metabolism" EXACT [GOC:TermGenie] is_a: GO:1901135 ! carbohydrate derivative metabolic process created_by: pr creation_date: 2012-11-20T14:24:07Z [Term] id: GO:1901659 name: glycosyl compound biosynthetic process namespace: biological_process def: "The chemical reactions and pathways resulting in the formation of glycosyl compound." [GOC:pr, GOC:TermGenie] synonym: "glycosyl compound anabolism" EXACT [GOC:TermGenie] synonym: "glycosyl compound biosynthesis" EXACT [GOC:TermGenie] synonym: "glycosyl compound formation" EXACT [GOC:TermGenie] synonym: "glycosyl compound synthesis" EXACT [GOC:TermGenie] is_a: GO:1901137 ! carbohydrate derivative biosynthetic process is_a: GO:1901657 ! glycosyl compound metabolic process created_by: pr creation_date: 2012-11-20T14:24:19Z [Term] id: GO:1901731 name: positive regulation of platelet aggregation namespace: biological_process def: "Any process that activates or increases the frequency, rate or extent of platelet aggregation. Platelet aggregation is the adhesion of one platelet to one or more other platelets via adhesion molecules." [GOC:fj, GOC:TermGenie] synonym: "activation of blood platelet aggregation" NARROW [GOC:TermGenie] synonym: "activation of platelet aggregation" NARROW [GOC:TermGenie] synonym: "activation of thrombocyte aggregation" RELATED [GOC:TermGenie] synonym: "positive regulation of blood platelet aggregation" EXACT [GOC:TermGenie] synonym: "positive regulation of thrombocyte aggregation" RELATED [GOC:TermGenie] synonym: "up regulation of blood platelet aggregation" EXACT [GOC:TermGenie] synonym: "up regulation of platelet aggregation" EXACT [GOC:TermGenie] synonym: "up regulation of thrombocyte aggregation" RELATED [GOC:TermGenie] synonym: "up-regulation of blood platelet aggregation" EXACT [GOC:TermGenie] synonym: "up-regulation of platelet aggregation" EXACT [GOC:TermGenie] synonym: "up-regulation of thrombocyte aggregation" RELATED [GOC:TermGenie] synonym: "upregulation of blood platelet aggregation" EXACT [GOC:TermGenie] synonym: "upregulation of platelet aggregation" EXACT [GOC:TermGenie] synonym: "upregulation of thrombocyte aggregation" RELATED [GOC:TermGenie] is_a: GO:0090330 ! regulation of platelet aggregation created_by: pr creation_date: 2013-01-10T13:25:39Z [Term] id: GO:1901905 name: response to tamsulosin namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tamsulosin stimulus." [GOC:TermGenie] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean created_by: hp creation_date: 2013-02-13T10:14:41Z [Term] id: GO:1902518 name: response to cyclophosphamide namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cyclophosphamide stimulus." [GOC:dw, GOC:TermGenie, PMID:23648065] comment: Note that this term is in the subset of terms that should not be used for direct manual annotation of gene products. It was created to be used for cross-referencing by other ontologies. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_manually_annotate is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean created_by: dw creation_date: 2013-12-02T09:34:08Z [Term] id: GO:1902519 name: response to docetaxel trihydrate namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a docetaxel trihydrate stimulus." [GOC:dw, GOC:TermGenie, PMID:23648065] comment: Note that this term is in the subset of terms that should not be used for direct manual annotation of gene products. It was created to be used for cross-referencing by other ontologies. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_manually_annotate synonym: "response to docetaxel" RELATED [] is_a: EFO:0005260 ! response to antimicrotubule agent property_value: gwas:trait "true" xsd:boolean created_by: dw creation_date: 2013-12-02T09:44:04Z [Term] id: GO:1902520 name: response to doxorubicin namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a doxorubicin stimulus." [GOC:dw, GOC:TermGenie, PMID:23648065] comment: Note that this term is in the subset of terms that should not be used for direct manual annotation of gene products. It was created to be used for cross-referencing by other ontologies. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_manually_annotate is_a: EFO:0005257 ! response to anthracycline-based chemotherapy property_value: gwas:trait "true" xsd:boolean created_by: dw creation_date: 2013-12-02T09:44:13Z [Term] id: GO:1902521 name: response to etoposide namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an etoposide stimulus." [GOC:dw, GOC:TermGenie, PMID:23648065] comment: Note that this term is in the subset of terms that should not be used for direct manual annotation of gene products. It was created to be used for cross-referencing by other ontologies. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_manually_annotate is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean created_by: dw creation_date: 2013-12-02T09:44:22Z [Term] id: GO:1902522 name: response to 4'-epidoxorubicin namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a 4'-epidoxorubicin stimulus." [GOC:dw, GOC:TermGenie, PMID:23648065] comment: Note that this term is in the subset of terms that should not be used for direct manual annotation of gene products. It was created to be used for cross-referencing by other ontologies. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_manually_annotate synonym: "response to epirubicin" RELATED [] is_a: EFO:0005257 ! response to anthracycline-based chemotherapy property_value: gwas:trait "true" xsd:boolean created_by: dw creation_date: 2013-12-02T09:44:31Z [Term] id: GO:1903491 name: response to simvastatin namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a simvastatin stimulus. Simvastatin is a statin used as a cholesterol-lowering and anti-cardiovascular disease drug." [GO_REF:0000071, GOC:sl, GOC:TermGenie, PMID:23100282] comment: Note that this term is in the subset of terms that should not be used for direct manual annotation of gene products. It was created to be used for cross-referencing by other ontologies. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_manually_annotate is_a: GO:0036273 ! response to statin property_value: gwas:trait "true" xsd:boolean created_by: hp creation_date: 2014-09-25T10:58:06Z [Term] id: GO:1903492 name: response to acetylsalicylate namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an aspirin (acetylsalicylate) stimulus. Aspirin is a non-steroidal anti-inflammatory drug with moA cyclooxygenase inhibitor activity." [GO_REF:0000071, GOC:TermGenie, PMID:23392654] is_a: EFO:0005533 ! response to non-steroidal anti-inflammatory property_value: gwas:trait "true" xsd:boolean created_by: hp creation_date: 2014-09-25T10:58:23Z [Term] id: GO:1903493 name: response to clopidogrel namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a clopidogrel stimulus. Clopidogrel is a is an oral, thienopyridine-class antiplatelet agent used to inhibit blood clots in coronary artery disease, peripheral vascular disease, and cerebrovascular disease." [GO_REF:0000071, GOC:TermGenie, PMID:23392654] is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean created_by: hp creation_date: 2014-09-25T11:36:42Z [Term] id: GO:1904014 name: response to serotonin namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a serotonin stimulus." [GO_REF:0000071, GOC:TermGenie, PMID:1505525] is_a: GO:0050896 ! response to stimulus created_by: sl creation_date: 2015-03-06T19:33:54Z [Term] id: GO:1904057 name: negative regulation of sensory perception of pain namespace: biological_process def: "Any process that stops, prevents or reduces the frequency, rate or extent of sensory perception of pain." [GO_REF:0000058, GOC:TermGenie, PMID:17167094] synonym: "down regulation of nociception" EXACT [GOC:TermGenie] synonym: "down regulation of perception of physiological pain" NARROW [GOC:TermGenie] synonym: "down regulation of sensory perception of pain" EXACT [GOC:TermGenie] synonym: "down-regulation of nociception" EXACT [GOC:TermGenie] synonym: "down-regulation of perception of physiological pain" NARROW [GOC:TermGenie] synonym: "down-regulation of sensory perception of pain" EXACT [GOC:TermGenie] synonym: "downregulation of nociception" EXACT [GOC:TermGenie] synonym: "downregulation of perception of physiological pain" NARROW [GOC:TermGenie] synonym: "downregulation of sensory perception of pain" EXACT [GOC:TermGenie] synonym: "inhibition of nociception" NARROW [GOC:TermGenie] synonym: "inhibition of perception of physiological pain" NARROW [GOC:TermGenie] synonym: "inhibition of sensory perception of pain" NARROW [GOC:TermGenie] synonym: "negative regulation of nociception" EXACT [GOC:TermGenie] synonym: "negative regulation of perception of physiological pain" NARROW [GOC:TermGenie] is_a: GO:0051930 ! regulation of sensory perception of pain created_by: sl creation_date: 2015-03-18T20:33:57Z [Term] id: GO:1904058 name: positive regulation of sensory perception of pain namespace: biological_process def: "Any process that activates or increases the frequency, rate or extent of sensory perception of pain." [GO_REF:0000058, GOC:TermGenie, PMID:17167094] synonym: "activation of nociception" NARROW [GOC:TermGenie] synonym: "activation of perception of physiological pain" NARROW [GOC:TermGenie] synonym: "activation of sensory perception of pain" NARROW [GOC:TermGenie] synonym: "positive regulation of nociception" EXACT [GOC:TermGenie] synonym: "positive regulation of perception of physiological pain" NARROW [GOC:TermGenie] synonym: "up regulation of nociception" EXACT [GOC:TermGenie] synonym: "up regulation of perception of physiological pain" NARROW [GOC:TermGenie] synonym: "up regulation of sensory perception of pain" EXACT [GOC:TermGenie] synonym: "up-regulation of nociception" EXACT [GOC:TermGenie] synonym: "up-regulation of perception of physiological pain" NARROW [GOC:TermGenie] synonym: "up-regulation of sensory perception of pain" EXACT [GOC:TermGenie] synonym: "upregulation of nociception" EXACT [GOC:TermGenie] synonym: "upregulation of perception of physiological pain" NARROW [GOC:TermGenie] synonym: "upregulation of sensory perception of pain" EXACT [GOC:TermGenie] is_a: GO:0051930 ! regulation of sensory perception of pain created_by: sl creation_date: 2015-03-18T20:34:03Z [Term] id: GO:1905119 name: response to haloperidol namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a haloperidol stimulus." [GO_REF:0000071, GOC:dw, GOC:TermGenie, PMID:24751813] comment: Note that this term is in the subset of terms that should not be used for direct manual annotation of gene products. It was created to be used for cross-referencing by other ontologies. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_manually_annotate is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean created_by: dw creation_date: 2016-04-08T12:36:39Z [Term] id: GO:1905747 name: negative regulation of saliva secretion namespace: biological_process def: "Any process that stops, prevents or reduces the frequency, rate or extent of saliva secretion." [GO_REF:0000058, GOC:TermGenie, PMID:23419067] synonym: "down regulation of saliva secretion" EXACT [GOC:TermGenie] synonym: "down regulation of salivation" EXACT [GOC:TermGenie] synonym: "down-regulation of saliva secretion" EXACT [GOC:TermGenie] synonym: "down-regulation of salivation" EXACT [GOC:TermGenie] synonym: "downregulation of saliva secretion" EXACT [GOC:TermGenie] synonym: "downregulation of salivation" EXACT [GOC:TermGenie] synonym: "inhibition of saliva secretion" NARROW [GOC:TermGenie] synonym: "inhibition of salivation" NARROW [GOC:TermGenie] synonym: "negative regulation of salivation" EXACT [GOC:TermGenie] is_a: GO:0046877 ! regulation of saliva secretion created_by: pga creation_date: 2016-12-09T10:24:00Z [Term] id: GO:1990054 name: response to temozolomide namespace: biological_process def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a temozolomide stimulus." [GOC:hp] comment: Note that this term is in the subset of terms that should not be used for direct manual annotation of gene products. It was created to be used for cross-referencing by other ontologies. Direct annotations to this term may be amended during annotation QC. subset: gocheck_do_not_manually_annotate is_a: GO:0050896 ! response to stimulus property_value: gwas:trait "true" xsd:boolean created_by: pr creation_date: 2013-02-22T10:09:44Z [Term] id: GO:1990110 name: callus formation namespace: biological_process def: "The process by which a callus is formed at a wound site. A plant callus is a portion of plant tissue that consists of mass of undifferentiated plant cells. It consists primarily of parenchyma cells but possibly contains other cell types as the callus begins to differentiate." [ISBN:0070187517] is_a: GO:0032501 ! multicellular organismal process relationship: part_of GO:0042060 ! wound healing created_by: tb creation_date: 2013-05-29T22:02:52Z [Term] id: GO:2000292 name: regulation of defecation namespace: biological_process def: "Any process that modulates the frequency, rate or extent of defecation." [GOC:obol] is_a: GO:0044058 ! regulation of digestive system process is_a: GO:0044062 ! regulation of excretion created_by: bf creation_date: 2010-12-21T09:23:08Z [Term] id: GO:2000294 name: positive regulation of defecation namespace: biological_process def: "Any process that activates or increases the frequency, rate or extent of defecation." [GOC:obol] is_a: GO:2000292 ! regulation of defecation created_by: bf creation_date: 2010-12-21T09:23:16Z [Term] id: GO:2000428 name: regulation of neutrophil aggregation namespace: biological_process def: "Any process that modulates the frequency, rate or extent of neutrophil aggregation." [GOC:BHF] synonym: "regulation of neutrocyte aggregation" EXACT [GOC:obol] synonym: "regulation of neutrophil leucocyte aggregation" EXACT [GOC:obol] synonym: "regulation of neutrophilic leukocyte aggregation" EXACT [GOC:obol] is_a: GO:0030155 ! regulation of cell adhesion created_by: ebc creation_date: 2011-02-28T05:18:54Z [Term] id: HANCESTRO:0003 name: country def: "A collective generic term that refers here to a wide variety of dependencies, areas of special sovereignty, uninhabited islands, and other entities in addition to the traditional countries or independent states." [] is_a: OBI:0000245 ! organization property_value: IAO:0000119 NCIT:C25464 xsd:string [Term] id: HANCESTRO:0004 name: ancestry category def: "Population category defined using ancestry informative markers (AIMs) based on genetic/genomic data" [] synonym: "ancestral group" EXACT [] is_a: OBI:0000181 ! population [Term] id: HANCESTRO:0005 name: European def: "Includes individuals who either self-report or have been described by authors as\nEuropean, Caucasian, White or one of the sub-populations from this region (e.g Dutch). This category also includes individuals who genetically cluster with reference populations from this region, for example 1000 Genomes and/or HapMap CEU, FIN, GBR, IBS and TSI populations." [] synonym: "Caucasian" EXACT [] synonym: "white" EXACT [] is_a: HANCESTRO:0004 ! ancestry category [Term] id: HANCESTRO:0006 name: South Asian def: "Includes individuals who either self-report or have been described by authors as South Asian or one of the sub-populations from this region (e.g Asian Indian). This category also includes individuals who genetically cluster with reference populations from this region, for example 1000 Genomes and/or HapMap\nBEB, GIH, ITU, PJL and STU populations." [] is_a: HANCESTRO:0008 ! Asian [Term] id: HANCESTRO:0008 name: Asian def: "Includes individuals that either self-report or have been described as Asian but there was not sufficient information to allow classification as East Asian, Central Asian, South Asian or South-East Asian." [] synonym: "Asian unspecified" EXACT [] is_a: HANCESTRO:0004 ! ancestry category [Term] id: HANCESTRO:0009 name: East Asian def: "Includes individuals who either self-report or have been described by authors as East Asian or one of the sub-populations from this region (e.g Chinese). This category also includes individuals who genetically cluster with reference populations from this region, for example 1000 Genomes and/or HapMap CDX, CHB, CHS and JPT populations." [] is_a: HANCESTRO:0008 ! Asian [Term] id: HANCESTRO:0010 name: African def: "Includes individuals that either self-report or have been described as African, but there was not sufficient information to allow classification as African American, AfroCaribbean or Sub-Saharan African." [] synonym: "African unspecified" EXACT [] is_a: HANCESTRO:0004 ! ancestry category [Term] id: HANCESTRO:0011 name: Sub-Saharan African def: "Includes individuals who either self-report or have been described by authors as SubSaharan African or one of the subpopulations from this region (e.g. Yoruban).\nThis category also includes individuals who genetically cluster with reference populations from this region for example 1000 Genomes and/or HapMap ESN, LWK, GWD, MSL, MKK and YRI populations." [] is_a: HANCESTRO:0010 ! African [Term] id: HANCESTRO:0013 name: Native American def: "Includes indigenous individuals of North, Central and South America, descended from the original human migration into the Americas from Siberia. We note that there does not appear to be a suitable reference population for this category and efforts are required to fill this gap." [] synonym: "American Indian" EXACT [] is_a: HANCESTRO:0004 ! ancestry category [Term] id: HANCESTRO:0014 name: Hispanic or Latin American def: "Includes individuals who either self-report or are described by authors as Hispanic, Latino, Latin American or one of the sub-populations\nfrom this region. This category includes individuals with known admixture of primarily European, African and Native American ancestries, though some may have also a degree of Asian (e.g. Peru). We also note that the levels of admixture vary depending on the country, with Caribbean countries carrying higher levels of African admixture when compared to South American countries, for example. This category also includes individuals who genetically cluster with reference populations from this region, for example 1000 Genomes and/or HapMap CLM, MXL, PEL and PUR populations" [] is_a: HANCESTRO:0004 ! ancestry category relationship: HANCESTRO:0301 HANCESTRO:0306 ! hasAncestryStatus admixed ancestry property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000117 "Jackie MacArthur" xsd:string property_value: IAO:0000117 "Joannella Morales" xsd:string [Term] id: HANCESTRO:0015 name: Greater Middle Eastern (Middle Eastern or North African or Persian) def: "Includes individuals who self-report or were described by authors as Middle Eastern, North African, Persian or one of the subpopulations from this region (e.g. Saudi Arabian). We note there is heterogeneity in this category with different degrees of admixture as well as levels of genetic isolation. We note that there does not appear to be a suitable reference population for this category and efforts are required to fill this gap." [] synonym: "Middle Eastern/North African" EXACT [] is_a: HANCESTRO:0004 ! ancestry category [Term] id: HANCESTRO:0016 name: African American or Afro-Caribbean def: "Includes individuals who either self-report or have been described by authors as African American or Afro-Caribbean. This category also includes individuals who genetically cluster with reference populations from this region, for example 1000 Genomes and/or HapMap ACB or ASW populations. We note that there is likely to be significant admixture with European ancestry populations." [] is_a: HANCESTRO:0004 ! ancestry category relationship: HANCESTRO:0301 HANCESTRO:0306 ! hasAncestryStatus admixed ancestry [Term] id: HANCESTRO:0017 name: Oceanian def: "Includes individuals that either self-report or have been described by authors as Oceanian or one of the sub-populations from this region (e.g. Native Hawaiian). We note that there does not appear to be a suitable reference population for this category and efforts are required to fill this gap." [] is_a: HANCESTRO:0004 ! ancestry category [Term] id: HANCESTRO:0019 name: Japanese is_a: HANCESTRO:0009 ! East Asian relationship: HANCESTRO:0330 http://dbpedia.org/resource/Japan ! isDemonymOf Japan [Term] id: HANCESTRO:0021 name: Chinese is_a: HANCESTRO:0009 ! East Asian relationship: HANCESTRO:0330 http://dbpedia.org/resource/China ! isDemonymOf China [Term] id: HANCESTRO:0022 name: Korean is_a: HANCESTRO:0009 ! East Asian relationship: HANCESTRO:0330 South:Korea ! isDemonymOf South Korea [Term] id: HANCESTRO:0027 name: Han Chinese is_a: HANCESTRO:0021 ! Chinese [Term] id: HANCESTRO:0290 name: genetically isolated population def: "A population with increased genetic homogeneity and reduced genetic variation due to cultural or geographic isolation" [] synonym: "founder population" EXACT [] synonym: "population isolate" EXACT [] is_a: HANCESTRO:0004 ! ancestry category [Term] id: HANCESTRO:0304 name: ancestry status def: "General characterisation of the ancestry of a population or individual" [] is_a: BFO:0000019 ! quality union_of: HANCESTRO:0305 ! genetically isolated ancestry union_of: HANCESTRO:0306 ! admixed ancestry [Term] id: HANCESTRO:0305 name: genetically isolated ancestry def: "Ancestry that is the result of cultural or geographic isolation. Generally characterised by increased genetic homogeneity and reduced genetic variation" [] is_a: HANCESTRO:0304 ! ancestry status [Term] id: HANCESTRO:0306 name: admixed ancestry def: "Ancestry which is an admixture of more than one defined ancestral population. The degree and type of admixture may vary within a population and the accuracy of classification requires well-defined reference samples" [] is_a: HANCESTRO:0304 ! ancestry status [Term] id: HANCESTRO:0383 name: Irish is_a: HANCESTRO:0005 ! European relationship: HANCESTRO:0330 http://dbpedia.org/resource/Republic_of_Ireland {http://purl.org/dc/terms/contributor="http://e-lico.eu/populous#OPPL_pattern"} ! isDemonymOf Republic of Ireland [Term] id: HANCESTRO:0438 name: Iranian is_a: HANCESTRO:0015 {http://purl.org/dc/terms/contributor="http://e-lico.eu/populous#OPPL_pattern"} ! Greater Middle Eastern (Middle Eastern or North African or Persian) relationship: HANCESTRO:0330 http://dbpedia.org/resource/Iran {http://purl.org/dc/terms/contributor="http://e-lico.eu/populous#OPPL_pattern"} ! isDemonymOf Iran [Term] id: HANCESTRO:0462 name: British is_a: HANCESTRO:0005 ! European relationship: HANCESTRO:0330 United:Kingdom {http://purl.org/dc/terms/contributor="http://e-lico.eu/populous#OPPL_pattern"} ! isDemonymOf United Kingdom [Term] id: HANCESTRO:0463 name: American is_a: HANCESTRO:0566 {http://purl.org/dc/terms/contributor="http://e-lico.eu/populous#OPPL_pattern"} ! undefined ancestry population relationship: HANCESTRO:0330 United:States {http://purl.org/dc/terms/contributor="http://e-lico.eu/populous#OPPL_pattern"} ! isDemonymOf United States [Term] id: HANCESTRO:0487 name: Indian synonym: "Asian Indian" EXACT [] synonym: "Indian Asian" EXACT [] is_a: HANCESTRO:0006 {http://purl.org/dc/terms/contributor="http://e-lico.eu/populous#OPPL_pattern"} ! South Asian relationship: HANCESTRO:0330 http://dbpedia.org/resource/India {http://purl.org/dc/terms/contributor="http://e-lico.eu/populous#OPPL_pattern"} ! isDemonymOf India [Term] id: HANCESTRO:0498 name: Filipino is_a: HANCESTRO:0008 {http://purl.org/dc/terms/contributor="http://e-lico.eu/populous#OPPL_pattern"} ! Asian relationship: HANCESTRO:0330 http://dbpedia.org/resource/Philippines {http://purl.org/dc/terms/contributor="http://e-lico.eu/populous#OPPL_pattern"} ! isDemonymOf Philippines [Term] id: HANCESTRO:0566 name: undefined ancestry population def: "Population for which insufficient information is available to allocate it to a specific ancestral group or which contain individuals from a range of known ancestry categories, eg American" [] is_a: HANCESTRO:0004 ! ancestry category [Term] id: HANCESTRO:0568 name: African American is_a: HANCESTRO:0016 ! African American or Afro-Caribbean [Term] id: HANCESTRO:0570 name: Pima Indian is_a: HANCESTRO:0013 ! Native American [Term] id: HANCESTRO:0573 name: Native Hawaiian is_a: HANCESTRO:0017 ! Oceanian [Term] id: HANCESTRO:0574 name: Pacific Islander is_a: HANCESTRO:0017 ! Oceanian [Term] id: HANCESTRO:0575 name: Yoruban is_a: HANCESTRO:0011 ! Sub-Saharan African [Term] id: HP:0000005 name: Mode of inheritance alt_id: HP:0001425 alt_id: HP:0001453 alt_id: HP:0001461 alt_id: HP:0010985 def: "The pattern in which a particular genetic trait or disorder is passed from one generation to the next." [https://orcid.org/0000-0002-0736-9199] comment: While there is a close conceptual relationship between allelic requirement and inheritance, they serve different purposes; allelic requirement is necessary for variant annotation pipelines and to determine if a given variant in a specific context is relevant to the phenotype of the patient e.g. a heterozygous variant (in the absence of compound heterozygosity) is relevant for dominant but not for recessive disease; while inheritance is used for describing the mode of inheritance of a phenotype and is particularly applicable in the clinical setting for communicating recurrence risk, to guide family screening, and to guide reproductive advice. synonym: "Inheritance" EXACT [] xref: UMLS:C1708511 is_a: BFO:0000016 ! disposition [Term] id: HP:0000008 name: Abnormal morphology of female internal genitalia def: "An abnormality of the female internal genitalia." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of female internal genitalia" EXACT [] xref: ICD10:Q51 xref: ICD10:R87 xref: UMLS:C4025900 is_a: HP:0000078 ! Abnormality of the genital system property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000011 name: Neurogenic bladder def: "A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention." [https://orcid.org/0000-0002-0736-9199, PMID:18095004, PMID:22400020] comment: Neurogenic bladder sphincter dysfunction (NBSD) can develop as a result of a lesion at any level in the nervous system, including the cerebral cortex, spinal cord, or peripheral nervous system. Neurologic conditions in children leading to neurogenic bladder dysfunction are predominantly congenital neural tube defects (including myelomeningocele, lipomeningocele, sacral agenesis, and occult lesions causing tethered cord). Acquired causes such as spinal cord tumors or trauma or sequelae of transverse myelitis are less frequent. Whereas from an etiologic standpoint neurogenic bladder dysfunction is a heterogeneous group, medical management will be similar irrespective of the underlying cause. synonym: "Lack of bladder control due to nervous system injury" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: DOID:12143 xref: ICD10:N31 xref: MedDRA:10029279 xref: MedlinePlus:MTHU037120 xref: MeSH:D001750 xref: MSH:D001750 xref: NCIt:C79696 xref: SNOMEDCT:398064005 xref: SNOMEDCT_US:397732007 xref: SNOMEDCT_US:398064005 xref: UMLS:C0005697 is_a: EFO:1000018 ! bladder disease is_a: HP:0000014 ! Abnormality of the bladder property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000014 name: Abnormality of the bladder def: "An abnormality of the urinary bladder." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C0149632 is_a: HP:0000079 ! Abnormality of the urinary system [Term] id: HP:0000015 name: Bladder diverticulum def: "Diverticulum (sac or pouch) in the wall of the urinary bladder." [https://orcid.org/0000-0002-0736-9199] synonym: "Bladder diverticula" EXACT [https://orcid.org/0000-0002-5316-1399] xref: MSH:C562406 xref: SNOMEDCT_US:197866008 xref: UMLS:C0156273 is_a: HP:0000014 ! Abnormality of the bladder [Term] id: HP:0000016 name: Urinary retention def: "Inability to completely empty the urinary bladder during the process of urination." [https://orcid.org/0000-0002-0736-9199] comment: Urinary retention is the inability of the urinary bladder to empty. The cause may be neurologic or nonneurologic. synonym: "Increased post-void residual urine volume" EXACT [] xref: ICD10:R33 xref: MSH:D016055 xref: NCIt:C50790 xref: SNOMEDCT_US:130951007 xref: SNOMEDCT_US:267064002 xref: SNOMEDCT_US:449491000124101 xref: UMLS:C0080274 is_a: HP:0000014 ! Abnormality of the bladder property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000019 name: Urinary hesitancy def: "Difficulty in beginning the process of urination." [https://orcid.org/0000-0002-0736-9199] synonym: "Difficulty with flow" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:5972002 xref: UMLS:C0152032 is_a: HP:0000014 ! Abnormality of the bladder [Term] id: HP:0000020 name: Urinary incontinence alt_id: HP:0006942 alt_id: HP:0008681 def: "Loss of the ability to control the urinary bladder leading to involuntary urination." [https://orcid.org/0009-0006-4530-3154, PMID:12559262] comment: Urinary incontinence can be defined as the complaint of any involuntary leakage of urine. synonym: "Bladder incontinence" EXACT [] synonym: "Loss of bladder control" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: ICD10:R32 xref: ICD9:788.3 xref: MSH:D014549 xref: NCIt:C78497 xref: SNOMEDCT:165232002 xref: SNOMEDCT_US:165232002 xref: UMLS:C0042024 is_a: HP:0000014 ! Abnormality of the bladder is_a: HP:0025142 ! Constitutional symptom property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000022 name: Abnormal male internal genitalia morphology def: "An abnormality of the male internal genitalia." [https://orcid.org/0000-0002-0736-9199] comment: The internal genital structures of the male including the testis, epididymis, vas deferens, seminal vesicle, ejaculatory duct, bulbourethral gland, and the prostate. xref: ICD10:Q55 xref: ICD10:R86 xref: UMLS:C4025899 is_a: HP:0000078 ! Abnormality of the genital system property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000023 name: Inguinal hernia def: "Protrusion of the contents of the abdominal cavity through the inguinal canal." [https://orcid.org/0000-0002-0736-9199] comment: Inguinal hernia appears as a bulge in the groin. subset: hposlim_core xref: ICD10:K40 xref: MEDDRA:10022016 "Inguinal hernia" xref: MedDRA:10022016 xref: MeSH:D006552 xref: MSH:D006552 xref: SNOMEDCT:396232000 xref: SNOMEDCT_US:396232000 xref: UMLS:C0019294 is_a: HP:0004299 ! Hernia of the abdominal wall property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000029 name: Testicular atrophy def: "Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility." [https://orcid.org/0000-0002-0736-9199] synonym: "Testicular degeneration" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:17585008 xref: UMLS:C0156312 is_a: HP:0000078 ! Abnormality of the genital system [Term] id: HP:0000031 name: Epididymitis def: "The presence of inflammation of the epididymis." [https://orcid.org/0000-0002-0736-9199] xref: MSH:D004823 xref: SNOMEDCT_US:31070006 xref: UMLS:C0014534 is_a: HP:0000022 ! Abnormal male internal genitalia morphology is_a: HP:0012649 ! Increased inflammatory response [Term] id: HP:0000044 name: Hypogonadotropic hypogonadism alt_id: HP:0003335 alt_id: HP:0008224 def: "Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH)." [https://orcid.org/0000-0002-0736-9199, PMID:23503957] synonym: "Hypogonadotrophic hypogonadism" EXACT [] synonym: "Isolated hypogonadotropic hypogonadism" RELATED [] synonym: "Low gonadotropins (secondary hypogonadism)" EXACT [] xref: MSH:D007006 xref: SNOMEDCT_US:33927004 xref: UMLS:C0271623 xref: UMLS:C3489396 is_a: HP:0000078 ! Abnormality of the genital system is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0000046 name: Small scrotum alt_id: HP:0030276 def: "Apparently small scrotum for age." [PMID:23650202] comment: A small scrotum is often accompanied by Cryptorchidism which should be coded separately. The size of the scrotum is dependent on the ambient temperature: a low temperature may cause the testes to retract, leading to the false impression of a small scrotum. synonym: "Hypoplastic scrotum" EXACT [] synonym: "Scrotal hypoplasia" EXACT [] synonym: "Smaller than typical growth of scrotum" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Underdeveloped scrotum" EXACT layperson [] xref: SNOMEDCT_US:204912007 xref: UMLS:C0431659 is_a: HP:0000078 ! Abnormality of the genital system [Term] id: HP:0000054 name: Micropenis alt_id: HP:0000038 def: "Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm." [https://orcid.org/0000-0002-0736-9199, PMID:15102623] synonym: "Short penis" EXACT layperson [] synonym: "Small penis" EXACT layperson [] xref: SNOMEDCT_US:34911001 xref: UMLS:C4551492 is_a: HP:0000078 ! Abnormality of the genital system [Term] id: HP:0000059 name: Hypoplastic labia majora def: "Undergrowth of the outer labia." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplasia of labia majora" EXACT [] synonym: "Small labia majora" EXACT layperson [] synonym: "Underdeveloped vaginal lips" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:289469003 xref: UMLS:C0566899 is_a: HP:0000078 ! Abnormality of the genital system [Term] id: HP:0000062 name: Ambiguous genitalia alt_id: HP:0008685 alt_id: HP:0008693 def: "A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4." [https://orcid.org/0000-0002-0736-9199, PMID:15102623] comment: Note that this term can include or combine variations in size and shape, with partial or complete absence of structures. It is preferable to describe the individual components, which are defined below. It is nonetheless a widely used bundled term and as such is retained here. The distinction of this finding from a marked degree of Hypospadias is an example of how this term can be problematic. Genetic gender is determined at fertilization, whereby the presence of a Y chromosome determines male gender. Normally, genetic gender determines gonadal gender which in turn determines phenotypic gender. Testicular development is an active process requiring expression of the primary testis determining gene SRY, which is located on the Y chromosome. synonym: "Ambiguous external genitalia" EXACT layperson [] synonym: "Ambiguous external genitalia at birth" EXACT layperson [] synonym: "Intersex genitalia" EXACT layperson [] xref: MSH:D012734 xref: SNOMEDCT_US:21321009 xref: UMLS:C0266362 is_a: HP:0000078 ! Abnormality of the genital system [Term] id: HP:0000069 name: Abnormality of the ureter alt_id: HP:0006001 def: "An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the ureters" EXACT [] synonym: "Ureter issue" EXACT [] synonym: "Ureteral anomalies" EXACT [] xref: UMLS:C1840382 is_a: HP:0000079 ! Abnormality of the urinary system [Term] id: HP:0000072 name: Hydroureter alt_id: HP:0006003 def: "The distention of the ureter with urine." [https://orcid.org/0000-0002-0736-9199, PMID:33085364] synonym: "Dilated ureter" EXACT [] synonym: "Megaureter" EXACT [] synonym: "Swelling of ureter" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Ureteral dilatation" EXACT [] synonym: "Uroureter" RELATED [] synonym: "Wide ureter" EXACT [] xref: SNOMEDCT_US:69758005 xref: SNOMEDCT_US:95576001 xref: UMLS:C0521620 xref: UMLS:C4020897 is_a: HP:0000069 ! Abnormality of the ureter [Term] id: HP:0000077 name: Abnormality of the kidney def: "An abnormality of the kidney." [https://orcid.org/0000-0002-0736-9199] comment: The kidney is a paired organ whose primary function is the production of urine. synonym: "Abnormal kidney" EXACT layperson [] synonym: "Abnormality of the kidney" EXACT layperson [] synonym: "Renal anomalies" EXACT [] synonym: "Renal anomaly" EXACT [] xref: MSH:D007674 xref: SNOMEDCT_US:44513007 xref: SNOMEDCT_US:90708001 xref: UMLS:C0022658 xref: UMLS:C0266292 is_a: HP:0000079 ! Abnormality of the urinary system [Term] id: HP:0000078 name: Abnormality of the genital system def: "An abnormality of the genital system." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the reproductive system" RELATED layperson [] synonym: "Genital abnormalities" EXACT layperson [] synonym: "Genital abnormality" EXACT layperson [] synonym: "Genital anomalies" EXACT layperson [] synonym: "Genital defects" EXACT layperson [] xref: UMLS:C0281966 xref: UMLS:C0744356 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000079 name: Abnormality of the urinary system def: "An abnormality of the urinary system." [https://orcid.org/0000-0002-0736-9199] synonym: "Urinary tract abnormalities" EXACT layperson [] synonym: "Urinary tract abnormality" EXACT layperson [] synonym: "Urinary tract anomalies" EXACT layperson [] xref: ICD10:R39 xref: UMLS:C0158698 (URINARY TRACT ANOMALY) xref: UMLS:C4021821 is_a: HP:0000118 ! Phenotypic abnormality property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000083 name: Renal insufficiency alt_id: HP:0000084 alt_id: HP:0004723 def: "A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism." [https://orcid.org/0000-0002-0736-9199] synonym: "Renal failure" EXACT layperson [] synonym: "Renal failure in adulthood" EXACT layperson [] xref: MSH:D051437 xref: SNOMEDCT_US:236423003 xref: SNOMEDCT_US:42399005 xref: UMLS:C0035078 xref: UMLS:C1565489 xref: UMLS:C1839604 is_a: HP:0012211 ! Abnormal renal physiology [Term] id: HP:0000085 name: Horseshoe kidney def: "A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline." [https://orcid.org/0000-0002-0736-9199] synonym: "Fused kidneys" BROAD [] synonym: "Horseshoe kidney" EXACT layperson [] synonym: "Horseshoe kidneys" EXACT layperson [] xref: Fyler:4507 xref: MSH:D000069337 xref: SNOMEDCT_US:41729002 xref: UMLS:C0221353 is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0000093 name: Proteinuria def: "Increased levels of protein in the urine." [https://orcid.org/0000-0002-0736-9199] synonym: "High urine protein levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Protein in urine" EXACT layperson [] xref: ICD10:O13 xref: ICD10:R80 xref: MSH:D011507 xref: SNOMEDCT_US:29738008 xref: UMLS:C0033687 is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000098 name: Tall stature alt_id: HP:0001527 alt_id: HP:0003515 alt_id: HP:0003516 def: "A height above that which is expected according to age and gender norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Accelerated linear growth" EXACT [] synonym: "Increased body height" EXACT layperson [] synonym: "Increased linear growth" EXACT [] synonym: "Tall stature" EXACT layperson [] xref: SNOMEDCT_US:248328003 xref: UMLS:C0241240 is_a: HP:0001507 ! Growth abnormality property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-27T02:21:00Z [Term] id: HP:0000103 name: Polyuria alt_id: HP:0200060 def: "An increased rate of urine production." [https://orcid.org/0000-0002-0736-9199] comment: An excessive volume of urination for an adult is more than 2.5 liters of urine per day. synonym: "Increased urine output" EXACT layperson [] xref: ICD10:R35 xref: ICD9:788.42 xref: MSH:D011141 xref: NCIt:C118303 xref: SNOMEDCT:28442001 xref: SNOMEDCT_US:28442001 xref: SNOMEDCT_US:56574000 xref: SNOMEDCT_US:718402002 xref: UMLS:C0032617 is_a: HP:0012590 ! Abnormal urine output property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000107 name: Renal cyst alt_id: HP:0000088 alt_id: HP:0000109 def: "A fluid filled sac in the kidney." [HPO_CONTRIBUTOR:Eurenomics_fschaefer] synonym: "Cystic kidney disease" RELATED layperson [] synonym: "Cystic kidneys" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Kidney cyst" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Renal cysts" RELATED [https://orcid.org/0000-0002-5316-1399] xref: MSH:D052177 xref: UMLS:C0022679 xref: UMLS:C3887499 is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0000111 name: Renal juxtaglomerular cell hypertrophy/hyperplasia def: "Increased number and size of the juxtaglomerular cells." [HPO_CONTRIBUTOR:Eurenomics_ewuehl] xref: UMLS:C1866496 is_a: HP:0011035 ! Abnormal renal cortex morphology [Term] id: HP:0000112 name: Nephropathy def: "A nonspecific term referring to disease or damage of the kidneys." [https://orcid.org/0000-0002-0736-9199] synonym: "Kidney damage" BROAD layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Kidney disease" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D007674 xref: SNOMEDCT_US:90708001 xref: UMLS:C0022658 xref: UMLS:C1408258 is_a: HP:0012211 ! Abnormal renal physiology property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000118 name: Phenotypic abnormality def: "A phenotypic abnormality." [https://orcid.org/0000-0002-0736-9199] comment: This is the root of the phenotypic abnormality subontology of the HPO. synonym: "Organ abnormality" EXACT [] xref: UMLS:C4021819 is_a: EFO:0000651 ! phenotype [Term] id: HP:0000121 name: Nephrocalcinosis def: "Nephrocalcinosis is the deposition of calcium salts in renal parenchyma." [https://orcid.org/0000-0002-0736-9199] comment: Nephrocalcinosis can be intratubular or interstitial, and can be diagnosed by means of a radiologic exam (plain radiographs, ultrasonograms, or computed tomography scans) or via microscopic examination of the renal tissues. The term nephrocalcinosis most often applies to a generalized increase in renal calcium content. synonym: "Increased calcium level in kidney" RELATED layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Too much calcium deposited in kidneys" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D009397 xref: SNOMEDCT_US:48638002 xref: UMLS:C0027709 xref: UMLS:C4280679 is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0000125 name: Pelvic kidney def: "A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis." [https://orcid.org/0000-0002-0736-9199] synonym: "Sacral kidney" EXACT [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:56108007 xref: UMLS:C0221209 is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0000130 name: Abnormality of the uterus alt_id: HP:0008630 alt_id: HP:0008692 def: "An abnormality of the uterus." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the uterus" EXACT layperson [] synonym: "Uterine abnormalities" EXACT layperson [] synonym: "Uterine malformations" EXACT layperson [] xref: MSH:C562565 xref: SNOMEDCT_US:37849005 xref: UMLS:C0266383 is_a: HP:0000008 ! Abnormal morphology of female internal genitalia [Term] id: HP:0000131 name: Uterine leiomyoma alt_id: HP:0008642 def: "The presence of a leiomyoma of the uterus." [https://orcid.org/0000-0002-0736-9199] comment: Leiomyoma is a benign neoplasm derived from smooth muscle cells. synonym: "Benign uterine leiomyomas" EXACT [] synonym: "Uterine fibroid" EXACT [] xref: MSH:D007889 xref: NCIT:C3157 xref: SNOMEDCT_US:146801000119103 xref: SNOMEDCT_US:44598004 xref: SNOMEDCT_US:95315005 xref: UMLS:C0042133 is_a: HP:0000130 ! Abnormality of the uterus property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000132 name: Menorrhagia alt_id: HP:0100609 def: "Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days." [https://orcid.org/0000-0002-0736-9199, PMID:22594864] synonym: "Abnormally heavy bleeding during menstruation" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormally heavy periods" EXACT layperson [] synonym: "Hypermenorrhea" EXACT [PMID:22594864] xref: ICD10:N92 xref: MSH:D008595 xref: NCIt:C26829 xref: SNOMEDCT:386692008 xref: SNOMEDCT_US:386692008 xref: UMLS:C0025323 is_a: HP:0000078 ! Abnormality of the genital system is_a: HP:0001892 ! Abnormal bleeding property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000138 name: Ovarian cyst alt_id: HP:0000146 def: "The presence of one or more cysts of the ovary." [https://orcid.org/0000-0002-0736-9199] synonym: "Cystic abnormalities of the ovaries" EXACT [] synonym: "Cystic ovaries" EXACT [] synonym: "Ovarian cyst" EXACT layperson [] synonym: "Ovarian cystic abnormality" EXACT [] xref: MSH:D010048 xref: SNOMEDCT_US:79883001 xref: UMLS:C0029927 is_a: HP:0000008 ! Abnormal morphology of female internal genitalia property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000152 name: Abnormality of head or neck def: "An abnormality of head and neck." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of head or neck" EXACT layperson [] synonym: "Head and neck abnormality" EXACT layperson [] xref: UMLS:C4021817 is_a: HP:0000118 ! Phenotypic abnormality property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000153 name: Abnormality of the mouth def: "An abnormality of the mouth." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal mouth" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of the mouth" EXACT layperson [] xref: ICD10:K07 xref: MSH:D009056 xref: SNOMEDCT_US:128334002 xref: UMLS:C0026633 is_a: HP:0000271 ! Abnormality of the face property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000154 name: Wide mouth alt_id: HP:0000181 alt_id: HP:0002052 def: "Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective)." [PMID:19125428] comment: The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces macrostomia, large mouth, and large oral aperture because these terms imply a wide and open mouth. The term should not be used to describe a patient with a lateral oral cleft. subset: hposlim_core synonym: "Broad mouth" EXACT layperson [] synonym: "Large mouth" EXACT layperson [] synonym: "Large oral aperture" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Macrostomia" EXACT [] synonym: "Wide mouth" EXACT layperson [] xref: MSH:D008265 xref: SNOMEDCT_US:40159009 xref: UMLS:C0024433 is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0000155 name: Oral ulcer def: "Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Mouth sore" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Mouth ulcer" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Oral mucosal ulceration" EXACT [] xref: MSH:D019226 xref: SNOMEDCT_US:26284000 xref: UMLS:C0149745 is_a: HP:0000153 ! Abnormality of the mouth property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000157 name: Abnormality of the tongue def: "Any abnormality of the tongue." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal tongue" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of the tongue" EXACT layperson [] synonym: "Glossal abnormality" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Lingual abnormality" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Tongue abnormality" EXACT layperson [] xref: UMLS:C0878638 is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0000160 name: Narrow mouth alt_id: HP:0002261 alt_id: HP:0009095 alt_id: HP:0009096 def: "Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective)." [PMID:19125428] comment: The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces microstomia, small oral aperture, and small mouth because the reduced opening of the mouth is secondary to reduced width. subset: hposlim_core synonym: "Microstomia" EXACT [] synonym: "Narrow mouth" EXACT layperson [] synonym: "Small mouth" EXACT layperson [] synonym: "Small oral aperture" EXACT [] xref: MSH:D008865 xref: SNOMEDCT_US:14582003 xref: UMLS:C0026034 is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0000161 name: Median cleft lip def: "A type of cleft lip presenting as a midline (median) gap in the upper lip." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Central cleft upper lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Midline cleft lip" EXACT [] xref: UMLS:C1850256 is_a: HP:0000204 ! Cleft upper lip [Term] id: HP:0000164 name: Abnormality of the dentition alt_id: HP:0001567 alt_id: HP:0006296 alt_id: HP:0006348 def: "Any abnormality of the teeth." [https://orcid.org/0000-0002-9338-3017] comment: Any abnormality of the primary (deciduous) or permanent teeth. subset: hposlim_core synonym: "Abnormal dentition" EXACT layperson [] synonym: "Abnormal teeth" EXACT layperson [] synonym: "Abnormality of the teeth" RELATED layperson [] synonym: "Dental abnormalities" EXACT plural_form [] synonym: "Dental abnormality" EXACT layperson [] synonym: "Dental anomalies" EXACT plural_form [] synonym: "Dental problem" RELATED layperson [] synonym: "Dental problems" RELATED plural_form [] synonym: "Tooth abnormalities" RELATED layperson [] xref: MSH:D014071 xref: SNOMEDCT_US:422775003 xref: UMLS:C0040427 xref: UMLS:C0262444 is_a: HP:0000153 ! Abnormality of the mouth property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000171 name: Microglossia alt_id: HP:0000226 alt_id: HP:0009079 def: "Decreased length and width of the tongue." [PMID:19125428] comment: Normal standards do not exist. The term aglossia is often used for extremely small tongue, but a nubbin of tongue tissue is almost always present and aglossia in sensu strictu is extremely rare. This is an acknowledged bundled term, but due to its frequent usage and relative paucity of situations that would call for separate individual assessments of tongue dimensions, the bundled term is retained. subset: hposlim_core synonym: "Abnormally small tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of tongue" EXACT [] synonym: "Hypoglossia" EXACT [] synonym: "Hypoplasia of the tongue" EXACT [] synonym: "Hypoplastic tongue" EXACT [] synonym: "Lingual hypoplasia" EXACT [] synonym: "Rudimentary tongue" EXACT [] synonym: "Small tongue" EXACT [] synonym: "Underdevelopment of the tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: MSH:D014060 xref: SNOMEDCT_US:249380003 xref: SNOMEDCT_US:32614006 xref: UMLS:C0025988 xref: UMLS:C0426492 is_a: HP:0000157 ! Abnormality of the tongue [Term] id: HP:0000175 name: Cleft palate alt_id: HP:0410004 def: "Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate)." [https://orcid.org/0000-0002-0736-9199] comment: Cleft palate is a developmental defect that occurs between the 7th and 12th week of pregnancy. Normally, the palatine processes fuse during this time to form the soft and hard palate. A failure of fusion results in a cleft palate. The clinical spectrum ranges from bifid uvula, to (incomplete or complete) cleft of the soft palate, up to (complete or incomplete) cleft of both the soft and hard palate. subset: hposlim_core synonym: "Cleft hard and soft palate" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Cleft of hard and soft palate" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Cleft of palate" EXACT [] synonym: "Cleft palate" EXACT layperson [] synonym: "Cleft roof of mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Cleft secondary palate" BROAD [] synonym: "Palatoschisis" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Uranostaphyloschisis" EXACT [https://orcid.org/0000-0001-5889-4463] xref: DOID:674 xref: Fyler:4876 xref: ICD10:Q35 xref: ICD9:749.0 xref: MSH:D002972 xref: NCIt:C87069 xref: OMIM:119540 xref: OMIM:119570 xref: Orphanet:2014 xref: SNOMEDCT:87979003 xref: SNOMEDCT_US:63567004 xref: SNOMEDCT_US:87979003 xref: UMLS:C0008925 xref: UMLS:C2981150 is_a: HP:0000202 ! Orofacial cleft property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000179 name: Thick lower lip vermilion alt_id: HP:0000170 def: "Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective)." [https://orcid.org/0000-0002-0736-9199, PMID:19125428] comment: Normal values for the height of the vermilion are available [Farkas, 1981] but measurements are not commonly used. Most clinicians determine this feature subjectively. The lower lip is typically thicker than the upper one. The height of the vermilion of the lower lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. When the vermilion is thick, it is more convex and more everted than usual on profile view, but that should be assessed separately. synonym: "Full lower lip" RELATED layperson [] synonym: "Full lower lip vermilion" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased height of lower lip vermilion" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased volume of lower lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased volume of lower lip vermilion" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Plump lower lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent lower lip" EXACT layperson [] synonym: "Prominent lower lip vermilion" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Thick lower lip" RELATED layperson [] synonym: "Thick red part of the lower lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thick vermilion border of lower lip" EXACT [] xref: UMLS:C1839739 xref: UMLS:C2053437 is_a: HP:0012471 ! Thick vermilion border [Term] id: HP:0000194 name: Open mouth def: "A facial appearance characterized by a permanently or nearly permanently opened mouth." [https://orcid.org/0000-0002-0736-9199] synonym: "Gaped jawed appearance" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Gaped mouthed appearance" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Open mouth" EXACT layperson [] synonym: "Open mouth appearance" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Slack jawed appearance" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:262016004 xref: UMLS:C0240379 is_a: HP:0011338 ! Abnormality of mouth shape [Term] id: HP:0000200 name: Short lingual frenulum def: "The presence of an abnormally short lingual frenulum." [https://orcid.org/0000-0002-0736-9199] synonym: "Deficiency of lingual frenulum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of lingual frenulum" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of lingual frenum" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of tongue frenulum" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of tongue frenum" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Short lingual frenum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Short tongue frenulum" EXACT [] synonym: "Short tongue frenum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Tight lingual frenulum" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:249388005 xref: UMLS:C0426501 xref: UMLS:C4280673 is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0000201 name: Pierre-Robin sequence def: "Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate." [https://orcid.org/0000-0002-0736-9199] synonym: "Pierre Robin sequence" EXACT [] synonym: "Pierre-robin anomaly" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Pierre-robin deformity" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Pierre-robin malformation" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Robin sequence" EXACT [] xref: MSH:D010855 xref: SNOMEDCT_US:4602007 xref: UMLS:C0031900 is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0000202 name: Orofacial cleft def: "The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately." [https://orcid.org/0000-0002-0736-9199, PMID:21331089] synonym: "Cleft lip, cleft palate" NARROW [] synonym: "Cleft lip/palate" RELATED [] synonym: "Cleft of the mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Oral cleft" EXACT [] synonym: "Oral clefting" EXACT [] xref: ICD10:Q37 xref: SNOMEDCT_US:253983005 xref: SNOMEDCT_US:66948001 xref: UMLS:C0158646 xref: UMLS:C4021813 is_a: HP:0000153 ! Abnormality of the mouth property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000204 name: Cleft upper lip def: "A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development." [https://orcid.org/0000-0002-0736-9199] synonym: "Cheiloschisis of upper lip" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Cleft of upper lip" RELATED layperson [] synonym: "Cleft upper lip" EXACT layperson [] synonym: "Harelip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: Fyler:4875 xref: MSH:D002971 xref: SNOMEDCT_US:80281008 xref: UMLS:C0008924 is_a: EFO:0003959 ! cleft lip [Term] id: HP:0000218 name: High palate alt_id: HP:0000156 alt_id: HP:0009080 alt_id: HP:0009082 alt_id: HP:0009097 def: "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [PMID:19125428] comment: The measuring device for this assessment is described in (Hall JG, Froster-Iskenius UG, Allanson JE, Gripp K, Slavotinek A. 2006. Handbook of Normal Physical Measurements. 2nd edition. Oxford Medical, publishers). A high palate is often associated with a narrow palate. However, a narrow palate can easily give a false appearance of a high palate. Height and width of the palate should be assessed and coded separately. We do not recommend the subjective determination because this term can be overused and applied inaccurately. synonym: "Elevated palate" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "High arched palate" EXACT [] synonym: "High palate" EXACT layperson [] synonym: "High, arched palate" EXACT [] synonym: "High-arched palate" EXACT [] synonym: "Increased palatal height" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Ogival palate" RELATED [] synonym: "Palate high-arched" EXACT [] synonym: "Palate, high-arched" EXACT [] xref: SNOMEDCT_US:27272007 xref: UMLS:C0240635 is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0000219 name: Thin upper lip vermilion alt_id: HP:0200062 alt_id: HP:0200086 def: "Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective)." [PMID:19125428] comment: Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or use the Likert scale for Caucasians and African Americans [Astley and Clarren, 2000]. The height of the vermilion of the upper lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thinness of the upper lip vermilion is sensitive to facial expression. On profile view, a thin vermilion is less convex than usual. A thin upper lip vermilion may be associated with a smooth philtrum and an absence of the Cupid's bow, but these should be assessed separately. subset: hposlim_core synonym: "Decreased height of upper lip vermilion" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased volume of upper lip" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased volume of upper lip vermilion" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Thin red part of the upper lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thin upper lip" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Thin upper lips" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Thin vermilion border of upper lip" EXACT [] xref: UMLS:C1865017 is_a: HP:0000233 ! Thin vermilion border [Term] id: HP:0000220 name: Velopharyngeal insufficiency def: "Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech." [HPO_CONTRIBUTOR:DDD_jhurst] synonym: "Velopharyngeal dysfunction" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Velopharyngeal incompetence" EXACT layperson [] xref: MSH:D014681 xref: SNOMEDCT_US:229727006 xref: SNOMEDCT_US:232416001 xref: SNOMEDCT_US:278714002 xref: UMLS:C0042454 xref: UMLS:C4280669 is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0000223 name: Abnormality of taste sensation synonym: "Abnormality of taste sensation" EXACT layperson [] xref: UMLS:C4025879 is_a: HP:0000157 ! Abnormality of the tongue is_a: HP:0012638 ! Abnormal nervous system physiology property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000225 name: Gingival bleeding alt_id: HP:0000167 def: "Hemorrhage affecting the gingiva." [https://orcid.org/0000-0002-9338-3017] synonym: "Bleeding gums" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Gingival haemorrhage" EXACT uk_spelling [] synonym: "Gingival hemorrhage" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Gingivorrhagia" EXACT [] xref: MSH:D005884 xref: OAE:0001985 xref: SNOMEDCT_US:86276007 xref: UMLS:C0017565 is_a: HP:0000153 ! Abnormality of the mouth is_a: HP:0001892 ! Abnormal bleeding property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000233 name: Thin vermilion border alt_id: HP:0000213 def: "Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips)." [https://orcid.org/0000-0002-0736-9199, PMID:19125428] comment: The vermilion is the red part of the lips, and the vermilion border is the rim of paler skin that demarcates the vermilion from the rest of the skin of the face. synonym: "Decreased volume of lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased volume of lip vermillion" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Thin lips" EXACT layperson [] synonym: "Thin vermilion borders" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Thin vermillion" EXACT [] xref: SNOMEDCT_US:301348000 xref: UMLS:C0578038 is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0000234 name: Abnormality of the head def: "An abnormality of the head." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal head" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of the head" EXACT layperson [] synonym: "Head abnormality" EXACT layperson [] xref: UMLS:C4021812 is_a: HP:0000152 ! Abnormality of head or neck [Term] id: HP:0000236 name: Abnormality of the anterior fontanelle def: "An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the forehead soft spot" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025875 is_a: HP:0000929 ! Abnormal skull morphology [Term] id: HP:0000238 name: Hydrocephalus alt_id: HP:0007189 alt_id: HP:0008503 def: "Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation." [https://orcid.org/0000-0002-0736-9199, PMID:18211712, PMID:19410151] comment: Hydrocephalus results from an imbalance between the rate of production of cerebrospinal fluid (CSF), mainly in the choroid plexus, and its reabsorption in the subarchnoid space over brain and spinal cord. synonym: "Hydrocephaly" EXACT [] synonym: "Nonsyndromal hydrocephalus" EXACT [] synonym: "Too much cerebrospinal fluid in the brain" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: ICD10:G91 xref: MSH:D006849 xref: SNOMEDCT_US:230745008 xref: UMLS:C0020255 is_a: HP:0002921 ! Abnormal cerebrospinal fluid morphology is_a: HP:0012443 ! Abnormal brain morphology property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000248 name: Brachycephaly alt_id: HP:0002258 alt_id: HP:0004479 alt_id: HP:0008512 def: "An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width." [https://orcid.org/0000-0002-0736-9199, PMID:19125436] comment: Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms also have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Brachycephaly is distinct from Flat occiput, but both can be present in the same individual and should be coded separately. subset: hposlim_core synonym: "Broad cranium shape" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Broad head shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Broad skull shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Short and broad skull" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Wide cranium shape" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Wide head shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Wide skull shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463] xref: MSH:D003398 xref: SNOMEDCT_US:13649004 xref: UMLS:C0221356 xref: UMLS:C4072823 xref: UMLS:C4072824 is_a: HP:0000929 ! Abnormal skull morphology [Term] id: HP:0000252 name: Microcephaly alt_id: HP:0001366 alt_id: HP:0005485 alt_id: HP:0005489 alt_id: HP:0005497 def: "Head circumference below 2 standard deviations below the mean for age and gender." [PMID:15806441, PMID:19125436, PMID:25465325, PMID:9683597] comment: Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles, others by standard deviations. It is important to add an indication of how far below the normal standard the head circumference is if an accurate assessment of this can be made. Microcephaly is an absolute term. The term relative microcephaly can be used when the head size centile is less than the centile for height, for example, head size at the 3rd centile with height at the 75% for age and sex. On prenatal ultrasound, microcephaly is diagnosed if the head circumference or the biparietal diameter is more than three standard deviations below the mean. Microcephaly is divided into primary microcephaly, which is present at birth, and secondary microcephaly, which develops postnatally. The crucial difference between these groupings is that primary microcephaly is usually a static developmental anomaly, whereas secondary microcephaly indicates a progressive neurodegenerative condition subset: hposlim_core synonym: "Abnormally small cranium" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormally small head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormally small skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased circumference of cranium" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of cranium" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Reduced head circumference" EXACT layperson [] synonym: "small calvarium" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "small cranium" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Small head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Small head circumference" EXACT layperson [] synonym: "Small skull" BROAD layperson [https://orcid.org/0000-0001-5889-4463] xref: Fyler:4310 xref: MeSH:D008831 xref: SNOMEDCT_US:271611007 xref: UMLS:C0025958 xref: UMLS:C4551563 is_a: HP:0000929 ! Abnormal skull morphology is_a: HP:0012443 ! Abnormal brain morphology [Term] id: HP:0000256 name: Macrocephaly alt_id: HP:0005491 alt_id: HP:0005496 alt_id: HP:0200135 def: "Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium." [PMID:19125436] comment: Macrocephaly can be due to hydrocephalus (increased CFSF), megalencephaly (increased brain volume) or thickening of the skull. Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles [Hall et al. [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far above the normal standard the head circumference is if an accurate assessment of this can be made. Macrocephaly is an absolute term. The term relative macrocephaly can be used when the head size centile exceeds the centile for height, for example, head size at the 75th centile with height at the 5th centile for age and sex. subset: hposlim_core synonym: "Big calvaria" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Big cranium" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Big head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Big skull" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased size of cranium" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased size of head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased size of skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Large calvaria" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Large cranium" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Large head" EXACT layperson [] synonym: "Large head circumference" EXACT layperson [] synonym: "Large skull" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Macrocephalus" EXACT [] synonym: "Macrocrania" EXACT [] synonym: "Megacephaly" EXACT [https://orcid.org/0000-0001-5208-3432] xref: Fyler:4335 xref: UMLS:C4083076 xref: UMLS:C4255213 xref: UMLS:C4280663 xref: UMLS:C4280664 is_a: HP:0000929 ! Abnormal skull morphology [Term] id: HP:0000260 name: Wide anterior fontanel def: "Enlargement of the anterior fontanelle with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Large anterior fontanel" EXACT [] synonym: "Large anterior fontanelle" EXACT [] synonym: "Large anterior fontanels" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Large open anterior fontanel" EXACT [] synonym: "Large open anterior fontanelle" EXACT [] synonym: "Wide anterior fontanelle" EXACT [] synonym: "Wide open anterior fontanelle" EXACT [] synonym: "Wider-than-typical soft spot of skull" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1866134 is_a: HP:0000236 ! Abnormality of the anterior fontanelle [Term] id: HP:0000263 name: Oxycephaly def: "Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull." [https://orcid.org/0000-0002-0736-9199] synonym: "Acrocephaly" RELATED [] xref: MSH:D003398 is_a: HP:0000929 ! Abnormal skull morphology [Term] id: HP:0000264 name: Abnormal mastoid morphology def: "An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of mastoid process of temporal bone" EXACT [] synonym: "Abnormality of the mastoid" EXACT [] xref: UMLS:C4025872 is_a: HP:0000929 ! Abnormal skull morphology [Term] id: HP:0000265 name: Mastoiditis xref: MSH:D008417 xref: SNOMEDCT_US:52404001 xref: UMLS:C0024904 is_a: HP:0000264 ! Abnormal mastoid morphology property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000268 name: Dolichocephaly alt_id: HP:0000258 alt_id: HP:0005440 def: "An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture." [https://orcid.org/0000-0002-0736-9199, PMID:19125436] comment: Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Dolichocephaly is distinct from Prominent occiput, but both can be present in the same individual and should be coded separately. Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). subset: hposlim_core synonym: "Large dolichocephalic skull" NARROW [] synonym: "Long, narrow head" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Narrow cranium shape" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Narrow head shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Narrow skull shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Tall and narrow skull" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Turridolichocephaly" BROAD [] xref: SNOMEDCT_US:72239002 xref: UMLS:C0221358 xref: UMLS:C4280653 xref: UMLS:C4280654 xref: UMLS:C4280655 xref: UMLS:C4280656 is_a: HP:0000929 ! Abnormal skull morphology [Term] id: HP:0000269 name: Prominent occiput alt_id: HP:0004489 def: "Increased convexity of the occiput (posterior part of the skull)." [PMID:19125436] comment: Increased convexity of the occiput gives an appearance of prominence. There are no objective measures for convexity of the occiput, and evaluation depends heavily on the experience of the observer. This finding may or may not be accompanied by Dolichocephaly, but this should be coded separately. subset: hposlim_core synonym: "Prominent back of the head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent back of the skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent posterior cranium" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent posterior head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent posterior skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Protruding back of the head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Protruding occiput" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1853737 xref: UMLS:C4280652 is_a: HP:0000929 ! Abnormal skull morphology [Term] id: HP:0000271 name: Abnormality of the face def: "An abnormality of the face." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal face" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of the countenance" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the face" EXACT layperson [] synonym: "Abnormality of the physiognomy" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the visage" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Anomaly of face" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Anomaly of the face" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Disorder of face" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Disorder of the face" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Facial abnormality" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Facial anomaly" RELATED [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:118930001 xref: SNOMEDCT_US:32003007 xref: SNOMEDCT_US:398206004 xref: SNOMEDCT_US:398302004 xref: UMLS:C0266617 xref: UMLS:C1290857 xref: UMLS:C4025871 is_a: HP:0000234 ! Abnormality of the head [Term] id: HP:0000272 name: Malar flattening alt_id: HP:0000312 alt_id: HP:0000332 alt_id: HP:0004642 alt_id: HP:0004658 alt_id: HP:0004671 alt_id: HP:0005319 alt_id: HP:0005443 alt_id: HP:0005455 alt_id: HP:0100846 def: "Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation." [https://orcid.org/0000-0001-5889-4463, https://orcid.org/0000-0002-0736-9199, PMID:19125436] comment: The malar process is the most medial and superior portion of the bony midface, articulating with the maxilla and temporal and sphenoid bones, contiguous with the lateral boundary of the nasal bridge. The term malar hypoplasia is no longer preferred because surface examination cannot distinguish hypoplasia from hypotrophy. {xref="https://orcid.org/0000-0001-5889-4463"} subset: hposlim_core synonym: "Decreased size of malar bone" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Depressed malar region" EXACT [] synonym: "Flat cheekbone" EXACT [https://orcid.org/0000-0002-9353-5498] synonym: "Hypotrophic malar bone" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Malar hypoplasia" EXACT [] synonym: "Underdevelopment of malar bone" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Zygomatic flattening" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1858085 xref: UMLS:C4280651 is_a: HP:0010668 ! Abnormal zygomatic bone morphology [Term] id: HP:0000276 name: Long face alt_id: HP:0000334 def: "Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective)." [PMID:19125436] comment: Objective measurement of the face height is made with sliding calipers from the nasion, just above the depth of the nasal root, to the gnathion, the inferior border of the mandible, both in the midline. Note that long face is distinct from narrow face. subset: hposlim_core synonym: "Elongation of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased height of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased length of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased vertical dimension of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Long face" EXACT layperson [] synonym: "Long facies" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Vertical elongation of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Vertical enlargement of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Vertical excess of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Vertical Facial Excess" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Vertical hyperplasia of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Vertical overgrowth of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1836047 is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000277 name: Abnormal mandible morphology alt_id: HP:0000209 def: "Any abnormality of the mandible, the bone of the lower jaw." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the lower jaw bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the mandible" EXACT layperson [] synonym: "Anomaly of the mandible" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the lower jaw bone" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the mandible" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the lower jaw bone" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the mandible" NARROW [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025870 is_a: HP:0030791 ! Abnormal jaw morphology [Term] id: HP:0000278 name: Retrognathia alt_id: HP:0002053 alt_id: HP:0002954 def: "An abnormality in which the mandible is mislocalised posteriorly." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Lower jaw retrognathia" EXACT [] synonym: "Receding chin" EXACT layperson [] synonym: "Receding lower jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Receding mandible" EXACT [] synonym: "Retrogenia" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Retrognathia of lower jaw" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Weak chin" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Weak jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: MSH:D063173 xref: UMLS:C3494422 is_a: HP:0000277 ! Abnormal mandible morphology [Term] id: HP:0000280 name: Coarse facial features alt_id: HP:0000281 alt_id: HP:0004640 def: "Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues." [PMID:19125436] subset: hposlim_core synonym: "Coarse face" EXACT [] synonym: "Coarse facial appearance" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Coarse facial features" EXACT layperson [] synonym: "Coarse facies" EXACT [] synonym: "Rounded and heavy facial features" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thickened facial skin with coarse facial features" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1845847 xref: UMLS:C4072825 is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000282 name: Facial edema synonym: "Facial oedema" EXACT uk_spelling [] synonym: "Facial puffiness" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Facial swelling" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:445088006 xref: UMLS:C0542571 is_a: HP:0000271 ! Abnormality of the face is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0000283 name: Broad face def: "Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective)." [PMID:19125436] comment: Note that broad face is distinct from round face. subset: hposlim_core synonym: "Broad face" EXACT layperson [] synonym: "Broad facies" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Horizontal excess of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Horizontal hyperplasia of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased breadth of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased horizontal dimension of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased transverse dimension of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased width of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Transverse excess of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Transverse hyperplasia of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Wide face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Wide facies" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1859680 is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000286 name: Epicanthus alt_id: HP:0000624 alt_id: HP:0007930 def: "A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus." [https://orcid.org/0000-0002-0736-9199] comment: In extreme cases, the skin fold can start as high as the eyebrow; this is called epicanthus superciliaris. subset: hposlim_core synonym: "Epicanthal fold" EXACT [] synonym: "Epicanthal folds" EXACT [] synonym: "Epicanthic folds" EXACT [] synonym: "Eye folds" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Palpebronasal fold" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Plica palpebronasalis" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent eye folds" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C0678230 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000294 name: Low anterior hairline def: "Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella." [PMID:19125436] comment: This feature gives the appearance of a short forehead. It is distinct from hirsutism of the forehead. In the latter, orientation of hair growth is lateral and texture and density of hair differs from scalp hair. subset: hposlim_core synonym: "Low frontal hairline" EXACT layperson [] synonym: "Low-set frontal hairline" EXACT layperson [] xref: UMLS:C1842366 is_a: HP:0000271 ! Abnormality of the face is_a: HP:0010720 ! Abnormal hair pattern [Term] id: HP:0000303 name: Mandibular prognathia alt_id: HP:0000251 alt_id: HP:0000279 alt_id: HP:0000328 alt_id: HP:0002051 alt_id: HP:0004648 alt_id: HP:0004656 alt_id: HP:0008514 def: "Abnormal prominence of the chin related to increased length of the mandible." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Big lower jaw" EXACT layperson [] synonym: "Big mandible" EXACT [] synonym: "Enlarged mandible" EXACT [] synonym: "Enlargement of mandible" EXACT [] synonym: "Hyperplasia of lower jaw" EXACT [] synonym: "Hypertrophy of lower jaw" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Hypertrophy of mandible" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Increased projection of lower jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased projection of mandible" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased size of lower jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased size of mandible" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Large lower jaw" EXACT layperson [] synonym: "Large mandible" EXACT [] synonym: "Lower jaw excess" EXACT [] synonym: "Lower jaw hyperplasia" EXACT [] synonym: "Macromandible" EXACT [] synonym: "Mandible prognathism" EXACT [] synonym: "Mandibular excess" EXACT [] synonym: "Mandibular hyperplasia" EXACT [] synonym: "Mandibular macrognathia" EXACT [] synonym: "Mandibular prognathism" EXACT [] synonym: "Prognathia" EXACT [] synonym: "Prognathism" EXACT [] synonym: "Prominent chin" EXACT layperson [] synonym: "Prominent jaw" EXACT [] synonym: "Prominent lower jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent mandible" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Relative mandibular prognathism" EXACT [] xref: MSH:D008313 xref: SNOMEDCT_US:109504005 xref: SNOMEDCT_US:22810007 xref: UMLS:C0302501 xref: UMLS:C0399526 xref: UMLS:C2227134 xref: UMLS:C4280644 xref: UMLS:C4280645 is_a: HP:0000271 ! Abnormality of the face is_a: HP:0000277 ! Abnormal mandible morphology [Term] id: HP:0000307 name: Pointed chin alt_id: HP:0005330 def: "A marked tapering of the lower face to the chin." [PMID:19125436] comment: The two rami of the mandible meet at an acute angle. subset: hposlim_core synonym: "Pointed chin" EXACT layperson [] synonym: "Pointed mention region" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Pointy chin" EXACT layperson [] synonym: "Small pointed chin" EXACT layperson [] synonym: "Witch's chin" EXACT layperson [] xref: UMLS:C1844505 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000308 name: Microretrognathia def: "A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly." [https://orcid.org/0000-0002-0736-9199] synonym: "Retromicrognathia" EXACT [] synonym: "Small retruded chin" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1839546 is_a: HP:0000278 ! Retrognathia is_a: HP:0000347 ! Micrognathia [Term] id: HP:0000311 name: Round face alt_id: HP:0000304 alt_id: HP:0004653 def: "The facial appearance is more circular than usual as viewed from the front." [PMID:19125436] subset: hposlim_core synonym: "Circular face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Round face" EXACT layperson [] synonym: "Round facial appearance" EXACT layperson [] synonym: "Round facial shape" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Round facies" EXACT [] synonym: "Round, full face" BROAD [] xref: UMLS:C0239479 xref: UMLS:C1856468 is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000316 name: Hypertelorism alt_id: HP:0000578 alt_id: HP:0002001 alt_id: HP:0004657 alt_id: HP:0007871 def: "Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes)." [PMID:19125427] subset: hposlim_core synonym: "Excessive orbital separation" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased distance between eye sockets" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased distance between eyes" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased interpupillary distance" EXACT [] synonym: "Ocular hypertelorism" EXACT [] synonym: "Wide-set eyes" EXACT layperson [] synonym: "Widely spaced eyes" EXACT layperson [] synonym: "Widened interpupillary distance" EXACT [] xref: MSH:D006972 xref: SNOMEDCT_US:194021007 xref: SNOMEDCT_US:22006008 xref: UMLS:C0020534 is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0000319 name: Smooth philtrum alt_id: HP:0000299 alt_id: HP:0000323 alt_id: HP:0004663 def: "Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border." [PMID:19152422] comment: There is a spectrum of this finding from total absence of the philtral ridges to a some prominence of the ridges. The central groove varies from absent to shallow. Normal values for the frequency of smooth philtrum are available. Grading of the smoothness of the philtrum, used in the assessment of Fetal Alcohol Syndrome, has been developed. This finding is greatly influenced by the facial expression, and care should be taken to evaluate the philtrum when the face is in a neutral position. A smooth philtrum can be associated with a Long philtrum. However, the two findings should be coded separately. synonym: "Decreased depth of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Flat philtrum" EXACT [] synonym: "Indistinct philtrum" EXACT [] synonym: "Philtrum, smooth" EXACT [] synonym: "Shallow philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Simple philtrum" EXACT [] xref: UMLS:C1142533 is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0000322 name: Short philtrum alt_id: HP:0200090 def: "Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border." [PMID:19152422] subset: hposlim_core synonym: "Decreased height of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased length of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased vertical dimension of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Vertical hypoplasia of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1861324 is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0000325 name: Triangular face alt_id: HP:0004645 alt_id: HP:0004662 alt_id: HP:0004668 def: "Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin." [https://orcid.org/0000-0002-9602-2321, PMID:19125436] subset: hposlim_core synonym: "Face with broad temples and narrow chin" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Triangular face" EXACT layperson [] synonym: "Triangular facial shape" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Triangular facies" EXACT [] xref: UMLS:C1835884 is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000327 name: Hypoplasia of the maxilla alt_id: HP:0004644 def: "Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Decreased projection of maxilla" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased projection of upper jaw" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of maxilla" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of upper jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deficiency of upper jaw bones" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of upper jaw bones" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplastic maxillary bones" EXACT [] synonym: "Hypotrophic maxilla" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophic upper jaw bones" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Maxillary deficiency" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Maxillary hypoplasia" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Maxillary micrognathia" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Maxillary retrognathia" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Maxillary retrusion" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Micromaxilla" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Retrognathia of upper jaw" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Retrusion of upper jaw bones" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Small maxilla" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Small upper jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Small upper jaw bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Upper jaw deficiency" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Upper jaw retrusion" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C0240310 xref: UMLS:C4082243 xref: UMLS:C4280640 xref: UMLS:C4280641 xref: UMLS:C4280642 xref: UMLS:C4280643 is_a: HP:0030791 ! Abnormal jaw morphology [Term] id: HP:0000331 name: Short chin def: "Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin." [https://orcid.org/0000-0002-0736-9199, PMID:19125436] comment: The term "micrognathia" should be used when the chin is both short (vertical dimension) and narrow (horizontal dimension). synonym: "Decreased height of chin" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Short chin" EXACT layperson [] synonym: "Short lower third of face" EXACT layperson [] synonym: "Small chin" RELATED layperson [] synonym: "Vertical deficiency of chin" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Vertical hypoplasia of chin" EXACT [] xref: SNOMEDCT_US:699439001 xref: UMLS:C1839323 xref: UMLS:C3697248 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000337 name: Broad forehead alt_id: HP:0000352 alt_id: HP:0000354 def: "Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead." [PMID:19125436] comment: Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow. Note that this term should not be confused with prominent forehead. subset: hposlim_core synonym: "Bitemporal widening" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Broad forehead" EXACT layperson [] synonym: "Increased bitemporal dimension" EXACT [] synonym: "Increased bitemporal width" EXACT [] synonym: "Increased width of the forehead" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Intertemporal widening" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Wide forehead" EXACT layperson [] xref: UMLS:C1849089 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000341 name: Narrow forehead alt_id: HP:0000314 alt_id: HP:0004674 alt_id: HP:0004677 def: "Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective)." [PMID:19125436] comment: A reduced distance between the temporal regions (temples) on each side of the head to one another. Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow. subset: hposlim_core synonym: "Bitemporal narrowing" EXACT [] synonym: "Bitemporal narrowness" EXACT [] synonym: "Bitemporal skull narrowing" EXACT [] synonym: "Decreased width of the forehead" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Intertemporal narrowing" EXACT [] synonym: "Narrow bitemporal diameter" EXACT [] synonym: "Narrow bitemporal width" EXACT [] synonym: "Narrow forehead" EXACT layperson [] synonym: "Temporal narrowness" EXACT [] xref: UMLS:C1839758 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000343 name: Long philtrum def: "Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border." [PMID:19152422] subset: hposlim_core synonym: "Elongated philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased height of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased length of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased vertical dimension of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Vertical hyperplasia of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1865014 is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0000347 name: Micrognathia alt_id: HP:0000210 alt_id: HP:0000330 alt_id: HP:0000345 alt_id: HP:0002005 alt_id: HP:0002674 alt_id: HP:0004669 alt_id: HP:0005460 alt_id: HP:0005470 def: "Developmental hypoplasia of the mandible." [https://orcid.org/0000-0002-0736-9199] comment: Mandibular hypoplasia, also known as micrognathia, is a term that describes an abnormally small lower jaw. subset: hposlim_core synonym: "Decreased projection of lower jaw" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased projection of mandible" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of lower jaw" EXACT [] synonym: "Decreased size of mandible" EXACT [] synonym: "Deficiency of lower jaw" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of lower jaw" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of mandible" EXACT [] synonym: "Hypoplastic mandible" EXACT [] synonym: "Hypoplastic mandible condyle" EXACT [] synonym: "Hypotrophic lower jaw" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophic mandible" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Little lower jaw" EXACT layperson [] synonym: "Little mandible" EXACT [] synonym: "Lower jaw deficiency" EXACT [] synonym: "Lower jaw hypoplasia" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Lower jaw retrusion" EXACT [] synonym: "Mandibular deficiency" EXACT [] synonym: "Mandibular hypoplasia" EXACT [] synonym: "Mandibular micrognathia" EXACT [] synonym: "Mandibular retrognathia" EXACT [] synonym: "Mandibular retrusion" EXACT [] synonym: "Micrognathia of lower jaw" EXACT [] synonym: "Micromandible" EXACT [] synonym: "Retrusion of lower jaw" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Robin mandible" EXACT [] synonym: "Severe hypoplasia of mandible" EXACT [] synonym: "Small jaw" EXACT layperson [] synonym: "Small lower jaw" EXACT layperson [] synonym: "Small mandible" EXACT [] synonym: "Underdevelopment of lower jaw" EXACT [] synonym: "Underdevelopment of mandible" EXACT [] xref: Fyler:4163 xref: MSH:D008844 xref: SNOMEDCT_US:32958008 xref: UMLS:C0025990 xref: UMLS:C0240295 xref: UMLS:C1857130 is_a: HP:0000277 ! Abnormal mandible morphology [Term] id: HP:0000348 name: High forehead alt_id: HP:0000342 def: "An abnormally increased height of the forehead." [https://orcid.org/0000-0002-0736-9199] synonym: "High forehead" EXACT layperson [] synonym: "Tall forehead" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C0239676 xref: UMLS:C2677762 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000349 name: Widow's peak alt_id: HP:0004544 def: "Frontal hairline with bilateral arcs to a low point in the midline of the forehead." [PMID:19125436] comment: The hair may need to be pulled back to recognize this feature. Historically, English widows in the 18th century wore a black hat, triangular in shape, with a point facing forward in the midline. subset: hposlim_core synonym: "Hairline peak" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hairline point" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Pointed frontal hairline" EXACT [] synonym: "Pointed hairline at front of head" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "V-shaped frontal hairline" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Widow's peak" EXACT layperson [] xref: UMLS:C1853486 is_a: HP:0009890 ! High anterior hairline property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000356 name: Abnormality of the outer ear alt_id: HP:0001752 def: "An abnormality of the external ear." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal pinnae" EXACT [] synonym: "Abnormality of the auricle" EXACT [] synonym: "Abnormality of the external ear" EXACT layperson [] synonym: "Abnormality of the outer ear" EXACT layperson [] synonym: "Ear anomalies" EXACT layperson [] synonym: "External ear malformations" EXACT layperson [] synonym: "Malformed pinnae" EXACT [] synonym: "Outer ear abnormality" EXACT layperson [] xref: SNOMEDCT_US:275259005 xref: UMLS:C0266589 xref: UMLS:C1846460 xref: UMLS:C1858566 is_a: HP:0031703 ! Abnormal ear morphology [Term] id: HP:0000358 name: Posteriorly rotated ears alt_id: HP:0008535 def: "A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front)." [https://orcid.org/0000-0002-0736-9199, PMID:19152421] comment: Angle formed by the line perpendicular to the Frankfurt plane and the medial longitudinal axis of the ear (the two most remote points of the ear) greater than two standard deviations above the mean for age. subset: hposlim_core synonym: "Ear, posterior angulation, increased" EXACT [] synonym: "Ears rotated toward back of head" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Posteriorly angulated ears" EXACT [] synonym: "Posteriorly rotated" EXACT [] synonym: "Posteriorly rotated auricles" EXACT [] synonym: "Posteriorly-angulated ears" EXACT [] synonym: "Posteriorly-rotated ears" EXACT [] xref: SNOMEDCT_US:253251006 xref: UMLS:C0431478 is_a: HP:0000377 ! Abnormal pinna morphology [Term] id: HP:0000359 name: Abnormality of the inner ear def: "An abnormality of the inner ear." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the inner ear" EXACT layperson [] synonym: "Inner ear abnormality" EXACT layperson [] xref: UMLS:C4021809 is_a: HP:0031703 ! Abnormal ear morphology [Term] id: HP:0000360 name: Tinnitus def: "Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation." [] subset: hposlim_core synonym: "Ringing in ears" EXACT layperson [] synonym: "Ringing in the ears" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D014012 xref: SNOMEDCT_US:162349004 xref: SNOMEDCT_US:162352007 xref: SNOMEDCT_US:60862001 xref: UMLS:C0040264 is_a: HP:0000364 ! Hearing abnormality property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000363 name: Abnormal earlobe morphology def: "An abnormality of the lobule of pinna." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal earlobe" EXACT layperson [] synonym: "Abnormal lobe of ear" EXACT [] synonym: "Abnormality of auricular lobule" EXACT [] synonym: "Abnormality of ear lobe" EXACT layperson [] synonym: "Abnormality of earlobe" EXACT layperson [] synonym: "Abnormality of lobulus auriculae" EXACT [] xref: UMLS:C4021808 is_a: HP:0000377 ! Abnormal pinna morphology [Term] id: HP:0000364 name: Hearing abnormality def: "An abnormality of the sensory perception of sound." [https://orcid.org/0000-0002-0736-9199] comment: According to the World Health Organization, deafness refers to the complete loss of hearing ability in one or two ears. Hearing impairment refers to both complete and partial loss of the ability to hear. synonym: "Abnormal hearing" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Hearing abnormality" EXACT layperson [] xref: UMLS:C4025860 is_a: HP:0000598 ! Abnormality of the ear [Term] id: HP:0000366 name: Abnormality of the nose def: "An abnormality of the nose." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the nose" EXACT layperson [] synonym: "Anomaly of the nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Nasal abnormality" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Nasal anomaly" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Nasal deformity" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Nasal malformation" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: ICD10:Q30 xref: SNOMEDCT_US:128274005 xref: SNOMEDCT_US:72089000 xref: UMLS:C0240547 xref: UMLS:C0265736 xref: UMLS:C2235909 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000368 name: Low-set, posteriorly rotated ears def: "Ears that are low-set and posteriorly rotated." [https://orcid.org/0000-0002-0736-9199] comment: This bundled term is left for convenience because of its common use in the literature. It is preferable to code each feature separately. synonym: "Low-set posteriorly rotated ears" EXACT [] xref: UMLS:C1857486 is_a: HP:0000358 ! Posteriorly rotated ears is_a: HP:0000369 ! Low-set ears [Term] id: HP:0000369 name: Low-set ears def: "Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear." [https://orcid.org/0000-0002-0736-9199, PMID:19152421] subset: hposlim_core synonym: "Low set ears" EXACT layperson [] synonym: "Low-set ears" EXACT layperson [] synonym: "Low-set pinnae" EXACT [] synonym: "Lowset ears" EXACT layperson [] synonym: "Melotia" EXACT [] xref: SNOMEDCT_US:95515009 xref: UMLS:C0239234 is_a: HP:0000377 ! Abnormal pinna morphology [Term] id: HP:0000376 name: Incomplete partition of the cochlea type II def: "With incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation." [https://orcid.org/0000-0002-0736-9199, PMID:21849370, PMID:34698066] comment: The triad of incomplete partition of the cochlea type II, dilation of the vestibule, and an enlarged vestibular aqueduct was previously referred to as a Mondini malformation but this nomenclature is no longer recommended. It is important to note that while reading the related literature, it is often not easy to understand if the authors use the correct terminology, so even in recent studies, the term Mondini should be considered with caution. synonym: "Cochlear malformation defect (Mondini dysplasia)" RELATED [] synonym: "Mondini defect" RELATED [] synonym: "Mondini dysplasia" RELATED [] synonym: "Mondini malformation" RELATED [] xref: UMLS:C1857078 xref: UMLS:C4025857 is_a: HP:0000359 ! Abnormality of the inner ear [Term] id: HP:0000377 name: Abnormal pinna morphology alt_id: HP:0000390 alt_id: HP:0000398 alt_id: HP:0004465 alt_id: HP:0008562 alt_id: HP:0008566 alt_id: HP:0008567 alt_id: HP:0008580 alt_id: HP:0008582 alt_id: HP:0008602 alt_id: HP:0040111 def: "An abnormality of the pinna, which is also referred to as the auricle or external ear." [https://orcid.org/0000-0002-0736-9199] comment: The term 'dysplastic' is no longer accepted as a descriptor for an ear with unusual morphology. Each specific anatomical component of the ear should be described when the ear is thought to be abnormal in appearance. synonym: "Abnormal form of ears" EXACT [] synonym: "Abnormally shaped ears" EXACT layperson [] synonym: "Auricular malformation" EXACT layperson [] synonym: "Deformed auricles" EXACT [] synonym: "Deformed ears" EXACT layperson [] synonym: "Dysplastic ears" EXACT [] synonym: "Malformation of auricle" EXACT [] synonym: "Malformed auricles" EXACT [] synonym: "Malformed ears" EXACT layperson [] synonym: "Malformed external ears" EXACT [] synonym: "Minor malformation of the auricles" EXACT [] synonym: "Poorly defined conchae" EXACT [] xref: SNOMEDCT_US:253255002 xref: UMLS:C0431483 xref: UMLS:C0857379 xref: UMLS:C1858566 is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0000384 name: Preauricular skin tag alt_id: HP:0008575 alt_id: HP:0100278 def: "A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear)." [https://orcid.org/0000-0002-0736-9199] synonym: "Ear tag" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Periauricular skin tag" EXACT [] synonym: "Preauricular acrochordon" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Preauricular fibroepithelial polyp" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Preauricular skin tags" EXACT [] synonym: "Preauricular tag" EXACT [] synonym: "Preauricular tags" EXACT [] synonym: "Skin tag in front of the ear" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Skin tag on the posterior cheek" BROAD layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1860816 xref: UMLS:C4072826 is_a: HP:0000271 ! Abnormality of the face is_a: HP:0010609 ! Skin tags [Term] id: HP:0000391 name: Thickened helices def: "Increased thickness of the helix of the ear." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Thick helix" EXACT [] xref: UMLS:C1837732 is_a: HP:0000377 ! Abnormal pinna morphology [Term] id: HP:0000396 name: Overfolded helix alt_id: HP:0001758 alt_id: HP:0008570 def: "A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear." [https://orcid.org/0000-0002-0736-9199, PMID:19152421] comment: This is most often seen in the superior helix where it must be distinguished from a Lop ear (where the usual convexity of the posterior border of the ear is lost). Helix folding is highly variable. subset: hposlim_core synonym: "Over-folded helices" EXACT [] synonym: "Overfolded ears" EXACT layperson [] synonym: "Overfolded helices" EXACT [] xref: UMLS:C1837731 is_a: HP:0000377 ! Abnormal pinna morphology [Term] id: HP:0000399 name: Prelingual sensorineural hearing impairment alt_id: HP:0001731 def: "A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech." [https://orcid.org/0000-0002-0736-9199] synonym: "Deafness, sensorineural, prelingual" EXACT [] synonym: "Prelingual sensorineural deafness" EXACT [] xref: UMLS:C4021806 is_a: HP:0011474 ! Childhood onset sensorineural hearing impairment [Term] id: HP:0000400 name: Macrotia alt_id: HP:0000382 alt_id: HP:0000386 alt_id: HP:0000401 alt_id: HP:0001755 def: "Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective)." [PMID:19152421] comment: This is acknowledged to be a bundled term but retained here because of its usefulness in practice. Ear length is determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. If only length is increased the term Long ear should be used. subset: hposlim_core synonym: "Large ears" EXACT layperson [] synonym: "Large pinnae" EXACT [] xref: SNOMEDCT_US:275480001 xref: SNOMEDCT_US:69056000 xref: UMLS:C0152421 xref: UMLS:C0554972 xref: UMLS:C1835581 xref: UMLS:C1848570 xref: UMLS:C1850189 xref: UMLS:C1855062 xref: UMLS:C1860838 is_a: HP:0000377 ! Abnormal pinna morphology [Term] id: HP:0000402 name: Stenosis of the external auditory canal alt_id: HP:0000373 def: "An abnormal narrowing of the external auditory canal." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "External auditory canal stenosis" EXACT [] synonym: "Narrow auditory canals" EXACT [] synonym: "Narrow ear canal" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Narrow external auditory canals" EXACT [] synonym: "Narrow external auditory meatus" EXACT [] synonym: "Narrowing of passageway from outer ear to middle ear" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Stenotic external auditory canal" EXACT [] xref: SNOMEDCT_US:300127002 xref: SNOMEDCT_US:301061006 xref: UMLS:C0395837 xref: UMLS:C0576860 is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0000405 name: Conductive hearing impairment alt_id: HP:0000367 alt_id: HP:0008581 def: "An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound." [https://orcid.org/0000-0002-0736-9199] comment: A conductive hearing impariment with greater than 90 dB loss. subset: hposlim_core synonym: "Conduction deafness" EXACT [] synonym: "Conductive deafness" EXACT layperson [] synonym: "Conductive hearing loss" EXACT layperson [] synonym: "Hearing loss, conductive" EXACT [] xref: MSH:D006314 xref: SNOMEDCT_US:44057004 xref: UMLS:C0018777 is_a: HP:0000364 ! Hearing abnormality is_a: HP:0031703 ! Abnormal ear morphology property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000407 name: Sensorineural hearing impairment alt_id: HP:0000374 alt_id: HP:0001753 alt_id: HP:0001916 alt_id: HP:0008538 alt_id: HP:0008553 alt_id: HP:0008565 alt_id: HP:0008576 alt_id: HP:0008611 alt_id: HP:0008613 alt_id: HP:0008614 def: "A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve." [https://orcid.org/0000-0002-0736-9199] comment: Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII, also known as the cochlear nerve). subset: hposlim_core synonym: "Hearing loss, sensorineural" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Sensorineural deafness" EXACT [] synonym: "Sensorineural hearing loss" EXACT [] xref: DOID:10003 xref: MSH:D006319 xref: SNOMEDCT:60700002 xref: SNOMEDCT_US:60700002 xref: UMLS:C0018784 is_a: HP:0000364 ! Hearing abnormality [Term] id: HP:0000408 name: Progressive sensorineural hearing impairment alt_id: HP:0000397 alt_id: HP:0000406 alt_id: HP:0008592 alt_id: HP:0008601 alt_id: HP:0008617 def: "A progressive form of sensorineural hearing impairment." [https://orcid.org/0000-0002-0736-9199] synonym: "Bilateral progressive sensorineural hearing loss" EXACT [] synonym: "Hearing loss, progressive sensorineural" EXACT [] synonym: "Hearing loss, sensorineural, bilateral, progressive" EXACT [] synonym: "Hearing loss, sensorineural, progressive" EXACT [] synonym: "Progressive bilateral sensorineural hearing loss" EXACT [] synonym: "Sensorineural hearing loss, progressive" EXACT [] xref: UMLS:C1843156 is_a: HP:0000407 ! Sensorineural hearing impairment is_a: HP:0001730 ! Progressive hearing impairment [Term] id: HP:0000411 name: Protruding ear alt_id: HP:0000412 def: "Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective)." [PMID:19152421] synonym: "Prominent ear" EXACT layperson [] synonym: "Prominent ears" EXACT layperson [] synonym: "Protruding ears" RELATED layperson [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:275478007 xref: UMLS:C1305420 xref: UMLS:C1855285 is_a: HP:0000377 ! Abnormal pinna morphology [Term] id: HP:0000413 name: Atresia of the external auditory canal alt_id: HP:0008547 alt_id: HP:0008564 alt_id: HP:0008626 def: "Absence or failure to form of the external auditory canal." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Absent auditory canals" EXACT [] synonym: "Absent ear canal" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent external auditory canals" EXACT [] synonym: "Atresia of the external auditory canals" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Atretic auditory canal" EXACT [] synonym: "Atretic auditory canals" EXACT [] synonym: "Atretic external auditory canal" EXACT [] synonym: "Atretic external auditory canals" EXACT [] synonym: "Auditory canal atresia" EXACT [] synonym: "External acoustic meatus atresia" EXACT [] synonym: "External auditory canal atresia" EXACT [] synonym: "External auditory meatal atresia" EXACT [] synonym: "External auditory meatus atresia" EXACT [] xref: UMLS:C1398325 xref: UMLS:C1840305 xref: UMLS:C1857079 xref: UMLS:C1866190 is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0000414 name: Bulbous nose alt_id: HP:0000443 def: "Increased volume and globular shape of the anteroinferior aspect of the nose." [PMID:19152422] comment: This is a bundled term, but as it is useful in practice it is kept here. This alteration of size and shape may be limited to the tip, but may involve the lower third of the nose. If only the width of the nasal tip is increased this should be coded as Broad nasal tip. synonym: "Bulbous nasal tip" RELATED [] synonym: "Bulbous nose" EXACT layperson [] synonym: "Potato nose" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: MSH:C538354 xref: UMLS:C0240543 xref: UMLS:C1834118 xref: UMLS:C1855751 is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000426 name: Prominent nasal bridge alt_id: HP:0000432 alt_id: HP:0000442 alt_id: HP:0004498 alt_id: HP:0005287 def: "Anterior positioning of the nasal root in comparison to the usual positioning for age." [PMID:19152422] comment: A prominent nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed separately. The nasal bridge becomes more prominent with age. Although the nasal root may be anteriorly placed without increasing the space between the eyes, prominence of the nasal bridge may be accompanied by Telecanthus or ocular Hypertelorism. If such findings are present these should be coded separately. Deep-set eyes may lead to the impression of a prominent nasal bridge, but this finding should be coded separately. synonym: "Convex bridge of nose" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Convex nasal bridge" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Elevated nasal bridge" EXACT layperson [] synonym: "High nasal bridge" EXACT layperson [] synonym: "Prominent bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent nasal bridge" EXACT layperson [] synonym: "Prominent nasal root" EXACT layperson [] synonym: "Protruding bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Protruding nasal bridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1854113 xref: UMLS:C4230640 is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000430 name: Underdeveloped nasal alae alt_id: HP:0004497 alt_id: HP:0004507 alt_id: HP:0005276 alt_id: HP:0005277 alt_id: HP:0005286 def: "Thinned, deficient, or excessively arched ala nasi." [PMID:19152422] comment: The alae nasi are the lateral portions of the nose or the wings of the nostrils, which partly encircle the nostrils (nares). They are usually about the width of the columella, but vary greatly depending on the shape of the nostril. Note that individuals may be described as having a Cleft ala nasi, but have a severely underdeveloped ala nasi. In an underdeveloped ala the continuity of the tissue encircling the nostril is undisturbed while in a cleft it is disrupted. With severe hypoplasia of the nasal alae, the nasal tip may appear depressed. subset: hposlim_core synonym: "Ala nasi, underdeveloped" EXACT [] synonym: "Alar cartilage hypoplasia" EXACT [] synonym: "Decreased size of nasal alae" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplastic alae nasae" EXACT [] synonym: "Hypoplastic alae nasi" EXACT [] synonym: "Hypoplastic alar cartilage" EXACT [] synonym: "Hypoplastic alar nasae" EXACT [] synonym: "Hypoplastic nares" EXACT [] synonym: "Hypoplastic nasal alae" EXACT [] synonym: "Hypoplastic nasal wings" EXACT [] synonym: "Hypoplastic nostrils" EXACT [] synonym: "Nasal cartilage hypoplasia" EXACT [] synonym: "Small nasal alae" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Thin hypoplastic alae nasi" EXACT [] synonym: "Underdeveloped tissue around nostril" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1834055 is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000431 name: Wide nasal bridge alt_id: HP:0000424 alt_id: HP:0004500 alt_id: HP:0004504 alt_id: HP:0004650 alt_id: HP:0200139 def: "Increased breadth of the nasal bridge (and with it, the nasal root)." [https://orcid.org/0000-0002-0736-9199, PMID:19152422] comment: Care should be taken to distinguish between increased width of bone and Fullness of paranasal tissue. A wide nasal bridge should be distinguished from Telecanthus and Hypertelorism. A wide nasal bridge can be either prominent or depressed, which should be coded separately. synonym: "Broad flat nasal bridge" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Broad nasal bridge" EXACT layperson [] synonym: "Broad nasal root" EXACT layperson [] synonym: "Broadened nasal bridge" EXACT layperson [] synonym: "Increased breadth of bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased breadth of nasal bridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased width of bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased width of nasal bridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Nasal bridge broad" EXACT layperson [] synonym: "Nasal bridge, wide" EXACT [] synonym: "Wide bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Wide nasal bridge" EXACT layperson [] synonym: "Widened nasal bridge" EXACT layperson [] xref: SNOMEDCT_US:249321001 xref: UMLS:C1839764 xref: UMLS:C1849367 is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000444 name: Convex nasal ridge alt_id: HP:0003683 def: "Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low." [PMID:19152422] subset: hposlim_core synonym: "Beaked nose" EXACT layperson [] synonym: "Beaklike protrusion" EXACT layperson [] synonym: "Convex dorsum of nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Convex nasal dorsum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hooked nose" EXACT layperson [] synonym: "Polly beak nasal deformity" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C0240538 is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000445 name: Wide nose alt_id: HP:0000438 def: "Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae." [PMID:19152422] subset: hposlim_core synonym: "Broad nose" EXACT layperson [] synonym: "Increased breadth of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased nasal breadth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased nasal width" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased width of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Wide nose" EXACT layperson [] xref: SNOMEDCT_US:249321001 xref: UMLS:C0426421 is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000446 name: Narrow nasal bridge alt_id: HP:0100782 def: "Decreased width of the bony bridge of the nose." [PMID:19152422] comment: The narrowness may be accompanied by a sharp, keel-shaped appearance. The nasal bridge may narrow with age. subset: hposlim_core synonym: "Narrow bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Narrow nasal bridge" EXACT layperson [] synonym: "Narrow nasal root" EXACT [] synonym: "Nasal Bridge, Narrow" EXACT layperson [] synonym: "Nasal bridge, thin" EXACT layperson [] synonym: "Pinched bridge of nose" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Pinched nasal bridge" RELATED layperson [] xref: UMLS:C4551564 is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000447 name: Pear-shaped nose synonym: "Pear-shaped nose" EXACT layperson [] xref: UMLS:C1853482 is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000448 name: Prominent nose alt_id: HP:0000461 alt_id: HP:0005271 alt_id: HP:0200140 def: "Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip." [PMID:19152422] subset: hposlim_core synonym: "Big nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Disproportionately large nose" EXACT layperson [] synonym: "Hyperplasia of nose" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Hypertrophy of nose" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Increased nasal size" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased size of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Large nose" EXACT layperson [] synonym: "Nasal hyperplasia" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Nasal hypertrophy" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent nose" EXACT layperson [] synonym: "Pronounced nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:249311009 xref: UMLS:C0426415 xref: UMLS:C1400105 xref: UMLS:C4280629 is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000455 name: Broad nasal tip alt_id: HP:0004501 alt_id: HP:0005269 def: "Increase in width of the nasal tip." [https://orcid.org/0000-0002-0736-9199, PMID:19152422] comment: Nasal tip width is assessed at the anterior junction of the alae and the tip. This is easier in persons with a somewhat squared shape of the nasal tip. This may be best viewed from the inferior aspect of the nose. No objective measures are available. See Bulbous nose for a related term. synonym: "Broad nasal tip" EXACT layperson [] synonym: "Broad tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Broad upturned nose" RELATED layperson [] synonym: "Broad, upturned nose" EXACT layperson [] synonym: "Increased breadth of nasal tip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased breadth of tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased width of nasal tip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased width of tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Nasal tip, broad" EXACT layperson [] synonym: "Nasal tip, wide" EXACT layperson [] synonym: "Wide tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:249327002 xref: UMLS:C0426429 is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000460 name: Narrow nose def: "Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae." [PMID:19152422] comment: Note: a small nose has both decreased height and a decreased width. These should be coded separately. synonym: "Decreased nasal breadth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased nasal width" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Narrow nose" EXACT layperson [] synonym: "Thin nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:249322008 xref: UMLS:C0426422 is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000463 name: Anteverted nares alt_id: HP:0000427 alt_id: HP:0000435 alt_id: HP:0000441 alt_id: HP:0004495 def: "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip)." [PMID:19152422] comment: The tip of the nose is upturned and is positioned superiorly to the nasal base, allowing the nares to be easily visualized from the front. With maturation and growth of the nasal ridge and tip, the nares usually become more downwardly directed. synonym: "Anteverted nose" EXACT [] synonym: "Anteverted nostrils" EXACT [] synonym: "Nasal tip, upturned" EXACT layperson [] synonym: "Nostrils anteverted" EXACT [] synonym: "Upturned nares" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Upturned nasal tip" EXACT layperson [] synonym: "Upturned nasal tips" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Upturned nose" EXACT layperson [] synonym: "Upturned nostrils" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:708670007 xref: UMLS:C1840077 is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000464 name: Abnormality of the neck def: "An abnormality of the neck." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the neck" EXACT layperson [] synonym: "Anomaly of the neck" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the neck" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the neck" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:298390003 xref: SNOMEDCT_US:40052002 xref: UMLS:C0266623 xref: UMLS:C0575167 xref: UMLS:C4280628 is_a: HP:0000152 ! Abnormality of head or neck [Term] id: HP:0000465 name: Webbed neck def: "Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline." [https://orcid.org/0000-0002-0736-9199, PMID:24523736] subset: hposlim_core synonym: "Neck webbing" EXACT layperson [] synonym: "Pterygium colli" EXACT [] synonym: "Webbed neck" EXACT layperson [] xref: SNOMEDCT_US:11731003 xref: UMLS:C0221217 is_a: HP:0000464 ! Abnormality of the neck [Term] id: HP:0000470 name: Short neck alt_id: HP:0005992 alt_id: HP:0200137 def: "Diminished length of the neck." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Cervical shortening" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased cervical height" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased cervical length" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased length of neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Short neck" EXACT layperson [] xref: SNOMEDCT_US:95427009 xref: UMLS:C0521525 is_a: HP:0000464 ! Abnormality of the neck is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0000471 name: Gastrointestinal angiodysplasia def: "Dysplasia affecting the vasculature of the gastrointestinal tract." [https://orcid.org/0000-0002-0736-9199] synonym: "GI angiodysplasia" EXACT abbreviation [] xref: UMLS:C0854242 is_a: HP:0004296 ! Abnormal gastrointestinal vascular morphology property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000473 name: Torticollis def: "Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head." [https://orcid.org/0000-0002-0736-9199] comment: The word torticollis comes from Latin words meaning twisted neck. Spasmodic torticollis is a focal dystonia that affects the neck and sometimes the shoulders, leading to involuntary contractions of the neck muscles, abnormal movements and postures of the head and neck. The abnormal movements can have both tonic and clonic components and can results in pain and discomfort. Spasmodic torticollis is the most common focal dystonia. synonym: "Cervical dystonia" EXACT [] synonym: "Loxia" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Spasmodic torticollis" EXACT [] synonym: "Wry neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: MSH:D014103 xref: SNOMEDCT_US:270476009 xref: SNOMEDCT_US:70070008 xref: SNOMEDCT_US:74333002 xref: UMLS:C0040485 xref: UMLS:C0152116 xref: UMLS:C0949445 is_a: HP:0000464 ! Abnormality of the neck is_a: HP:0001332 ! Dystonia is_a: HP:0011442 ! Abnormal central motor function is_a: HP:0011805 ! Abnormal skeletal muscle morphology [Term] id: HP:0000474 name: Thickened nuchal skin fold alt_id: HP:0000477 def: "A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome." [https://orcid.org/0000-0002-0736-9199, PMID:16100637, PMID:30431620] comment: The measurement of nuchal fold (NF) thickness during the second trimester is considered to be one of the most sensitive and specific isolated ultrasound marker for the identification of suspected cases of trisomy 21. Thick NF may also be seen in other aneuploidies as well as Turner's syndrome, Noonan's syndrome, Roberts syndrome, Zellweger syndrome and with congenital heart disease and with pathogenic CNVs. A thickened nuchal fold should be distinguished from cystic hygroma, in which the skin in this area has fluid-filled loculations. A thickened nuchal fold should not be confused with nuchal translucency, which is a specific measurement of fluid in the posterior aspect of the neck at 11 to 14 weeks gestation (see practice guidelines at http://www.sogc.org). subset: hposlim_core synonym: "Excess nuchal skin" EXACT [] synonym: "Increased nuchal fold" EXACT [] synonym: "Increased nuchal fold thickness" EXACT [] synonym: "Thick nuchal fold" EXACT [] synonym: "Thickened nuchal skin" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Thickened skin folds of neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thickened skin over the neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1836940 is_a: HP:0000464 ! Abnormality of the neck is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0000478 name: Abnormality of the eye def: "Any abnormality of the eye, including location, spacing, and intraocular abnormalities." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal eye" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of the eye" EXACT layperson [] synonym: "Eye disease" RELATED layperson [] xref: MSH:D005124 xref: MSH:D005128 xref: SNOMEDCT_US:19416009 xref: SNOMEDCT_US:371405004 xref: SNOMEDCT_US:371409005 xref: UMLS:C0015393 xref: UMLS:C0015397 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000479 name: Abnormal retinal morphology alt_id: HP:0007938 def: "A structural abnormality of the retina." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal retina" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of the retina" EXACT [] synonym: "Anomaly of the retina" EXACT [] synonym: "Retina issue" EXACT layperson [] synonym: "Retinal disease" RELATED [] xref: MSH:D012164 xref: SNOMEDCT_US:29555009 xref: UMLS:C0035300 xref: UMLS:C0035309 is_a: HP:0004329 ! Abnormal posterior eye segment morphology [Term] id: HP:0000481 name: Abnormal cornea morphology alt_id: HP:0007771 alt_id: HP:0007972 def: "Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the cornea" EXACT [] synonym: "Corneal abnormalities" EXACT [] synonym: "Corneal abnormality" EXACT [] synonym: "Cornela disease" RELATED [] xref: UMLS:C1855670 xref: UMLS:C4020889 is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0000483 name: Astigmatism def: "A type of astigmatism associated with abnormal curvatures on the anterior and/or posterior surface of the cornea." [HPO_CONTRIBUTOR:DDD_ncarter, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123] comment: The irregular curvature associated with astigmatism means that the optical system is not symmetric about the optical axis. Most commonly the cornea is affected such that the refractive power in one meridian is less than that of the perpendicular axis. Astigmatism of significant degree causes blurry vision. subset: hposlim_core synonym: "Abnormal curving of the cornea or lens of the eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Astigmatism" EXACT layperson [] xref: DOID:11782 xref: DOID:9835 xref: ICD9:367.2 xref: MeSH:D012030 xref: MSH:D001251 xref: NCIt:C87145 xref: SNOMEDCT:82649003 xref: SNOMEDCT_US:82649003 xref: UMLS:C0004106 is_a: HP:0000481 ! Abnormal cornea morphology is_a: HP:0000539 ! Abnormality of refraction property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000485 name: Megalocornea alt_id: HP:0007660 def: "An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Anterior megalophthalmos" EXACT [] synonym: "Enlarged cornea" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Increased corneal diameter" EXACT [] synonym: "Macrocornea" EXACT [] xref: MSH:C562829 xref: SNOMEDCT_US:204118005 xref: SNOMEDCT_US:268158009 xref: UMLS:C0344530 xref: UMLS:C1167712 is_a: HP:0000481 ! Abnormal cornea morphology [Term] id: HP:0000486 name: Strabismus alt_id: HP:0000487 def: "A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123, PMID:26319345] subset: hposlim_core synonym: "Cross-eyed" EXACT layperson [] synonym: "Squint" EXACT layperson [] synonym: "Squint eyes" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] xref: ICD10:H50 xref: MSH:D013285 xref: SNOMEDCT_US:128602000 xref: SNOMEDCT_US:22066006 xref: UMLS:C0038379 is_a: HP:0000549 ! Abnormal conjugate eye movement property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000490 name: Deeply set eye alt_id: HP:0000663 def: "An eye that is more deeply recessed into the plane of the face than is typical." [PMID:19125427] comment: This finding should be distinguished from a prominent supraorbital ridge or inferior orbital margin. In Deeply set eyes, the globe is recessed in comparison to the overall prominence of the face. There is no known objective measurement, and diagnosing this feature depends heavily on the experience of the observer. subset: hposlim_core synonym: "Deep set eye" EXACT layperson [] synonym: "Deep-set eyes" EXACT layperson [] synonym: "Deeply set eye" EXACT layperson [] synonym: "Enophthalmos" EXACT [] synonym: "Ocular depression" EXACT [] synonym: "Sunken eye" EXACT layperson [] synonym: "Sunken eyes" EXACT [] xref: MSH:D015841 xref: SNOMEDCT_US:246923005 xref: SNOMEDCT_US:80093006 xref: UMLS:C0014306 xref: UMLS:C0423224 is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0000494 name: Downslanted palpebral fissures alt_id: HP:0007714 alt_id: HP:0007908 def: "The palpebral fissure inclination is more than two standard deviations below the mean." [PMID:19125427] subset: hposlim_core synonym: "Antimongoloid eye slant" EXACT [] synonym: "Antimongoloid slant of palpebral fissures" EXACT [] synonym: "Antimongoloid slanted palpebral fissures" EXACT [] synonym: "Down slanting palpebral fissures" EXACT [] synonym: "Down-slanted palpebral fissures" EXACT [] synonym: "Down-slanting palpebral fissure" EXACT [] synonym: "Down-slanting palpebral fissures" EXACT [] synonym: "Downslanting palpebral fissure" EXACT [] synonym: "Downslanting palpebral fissures" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Downward slanted palpebral fissures" EXACT [] synonym: "Downward slanting of the opening between the eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Downward slanting palpebral fissures" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Downward-slanting palpebral fissures" EXACT [] synonym: "Palpebral fissures down-slanted" EXACT [] xref: SNOMEDCT_US:246800008 xref: UMLS:C0423110 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000504 name: Abnormality of vision def: "Abnormality of eyesight (visual perception)." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of sight" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of vision" EXACT layperson [] synonym: "Vision issue" EXACT layperson [] xref: UMLS:C4025846 is_a: HP:0000478 ! Abnormality of the eye property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000505 name: Visual impairment alt_id: HP:0000516 alt_id: HP:0000566 alt_id: HP:0007758 alt_id: HP:0007860 alt_id: HP:0007983 def: "Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery." [https://orcid.org/0000-0001-8727-6592] subset: hposlim_core synonym: "Impaired vision" EXACT layperson [] synonym: "Loss of eyesight" EXACT layperson [] synonym: "Poor vision" EXACT layperson [] synonym: "Visual impairment" EXACT layperson [] xref: ICD10:H53 xref: MSH:D014786 xref: MSH:D015354 xref: SNOMEDCT_US:246635007 xref: SNOMEDCT_US:397540003 xref: SNOMEDCT_US:7973008 xref: UMLS:C0042798 xref: UMLS:C3665347 is_a: HP:0000504 ! Abnormality of vision property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000512 name: Abnormal electroretinogram alt_id: HP:0003285 def: "Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography." [https://orcid.org/0000-0002-0736-9199] comment: The electrical responses of the photoreceptors (rods and cones), inner retinal cells (bipolar and amacrine cells), and the ganglion cells can be assessed by ERG. subset: hposlim_core synonym: "Abnormal electroretinography" EXACT [] synonym: "Abnormal ERG" EXACT [] synonym: "ERG abnormal" EXACT [] xref: SNOMEDCT_US:274524001 xref: UMLS:C0476397 is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0000517 name: Abnormal lens morphology def: "An abnormality of the lens." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the lens" EXACT layperson [] synonym: "Lens disease" RELATED layperson [] synonym: "Lens issue" EXACT layperson [] xref: MSH:D007905 xref: SNOMEDCT_US:10810001 xref: UMLS:C0023308 xref: UMLS:C0549651 is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0000519 name: Developmental cataract alt_id: HP:0001108 alt_id: HP:0007679 alt_id: HP:0007692 alt_id: HP:0007726 alt_id: HP:0007788 def: "A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens." [https://orcid.org/0000-0002-0736-9199] comment: In general, congenital cataracts are bilateral and that is the assumption with the terms in this cataract subhierarchy. subset: hposlim_core synonym: "Bilateral congenital cataracts" EXACT [] synonym: "Cataract, congenital" EXACT [] synonym: "Clouding of the lens of the eye at birth" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Congenital cataract" EXACT [] synonym: "Congenital cataracts" EXACT [] synonym: "Congenital cataracts, bilateral" EXACT [] xref: SNOMEDCT_US:609587005 xref: SNOMEDCT_US:79410001 xref: UMLS:C0009691 xref: UMLS:C3277059 is_a: HP:0000517 ! Abnormal lens morphology is_a: HP:0007700 ! Ocular anterior segment dysgenesis [Term] id: HP:0000520 name: Proptosis alt_id: HP:0000536 alt_id: HP:0000644 alt_id: HP:0000645 alt_id: HP:0007711 alt_id: HP:0007870 def: "An eye that is protruding anterior to the plane of the face to a greater extent than is typical." [https://orcid.org/0009-0006-4530-3154, PMID:19125427] comment: Some sources define "exophthalmos" as a protrusion of the globe greater than 18 mm and "proptosis" as a protusion equal to or less than 18 mm. Others define "exophthalmos" as protusion secondary to endocrine dysfunction and "proptosis" as any non-endocrine-mediated protusion (Source: Wikipedia). This finding should be distinguished frm underdevelopment of the supraorbital ridge or maxilla/zygoma. In proptosis, the globe is anteriorly protuberant to the overall plane of the face. subset: hposlim_core synonym: "Anterior bulging of the globe" EXACT [] synonym: "Anterior bulging of the globe of eye" EXACT [] synonym: "Bulging eye" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Exophthalmos" EXACT [] synonym: "Eyeballs bulging out" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Ocular proptosis" EXACT [] synonym: "Prominent eyes" EXACT layperson [] synonym: "Prominent globes" EXACT layperson [] synonym: "Protruding eyes" EXACT layperson [] synonym: "Protrusio bulbi" EXACT [] xref: MSH:D005094 xref: SNOMEDCT_US:18265008 xref: UMLS:C0015300 xref: UMLS:C1837760 xref: UMLS:C1848490 xref: UMLS:C1862425 is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0000527 name: Long eyelashes alt_id: HP:0000500 def: "Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective)." [PMID:19125427, PMID:26288407] comment: Measurement should be done on the longest lashes, which are usually at the center of the lid. Normal values are 7.99 - 1.05 mm in boys and 7.76 - 1.03 mm in girls. Note that Eyelash trichomegaly is defined as increase in length (12 mm or more), curling, pigmentation or thickness of eyelashes. subset: hposlim_core synonym: "Ciliary trichomegaly" EXACT [] synonym: "Eyelash trichomegaly" EXACT [] synonym: "Increased length of eyelashes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Long eyelashes" EXACT layperson [] synonym: "Unusually long eyelashes" EXACT layperson [] xref: UMLS:C1853738 is_a: HP:0000271 ! Abnormality of the face is_a: HP:0001574 ! Abnormality of the integument [Term] id: HP:0000528 name: Anophthalmia alt_id: HP:0001485 alt_id: HP:0007664 def: "Absence of the globe or eyeball." [HPO_CONTRIBUTOR:DDD_ncarter] subset: hposlim_core synonym: "Absence of eyeballs" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Absence of globes of eyes" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Anophthalmia, clinical" EXACT [] synonym: "Clinical anophthalmia, unilateral/bilateral" EXACT [] synonym: "Failure of development of eyeball" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Missing eyeball" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Missing globe of eye" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "No eyeball" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "No globe of eye" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Ocular absence" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] xref: Fyler:4864 xref: MSH:D000853 xref: SNOMEDCT_US:204099004 xref: SNOMEDCT_US:7183006 xref: UMLS:C0003119 is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0000529 name: Progressive visual loss alt_id: HP:0000560 alt_id: HP:0007735 alt_id: HP:0007753 alt_id: HP:0007967 def: "A reduction of previously attained ability to see." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Decreased visual acuity, progressive" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Loss of visual acuity" EXACT [] synonym: "Progressive loss of vision" EXACT layperson [] synonym: "Progressive vision loss" EXACT layperson [] synonym: "Progressive visual acuity loss" EXACT [] synonym: "Progressive visual impairment" EXACT layperson [] synonym: "Slowly progressive visual loss" EXACT layperson [] synonym: "Vision loss, progressive" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Visual loss, progressive" EXACT layperson [] xref: UMLS:C1839364 xref: UMLS:C3277697 is_a: HP:0000572 ! Visual loss [Term] id: HP:0000535 name: obsolete Sparse and thin eyebrow is_obsolete: true replaced_by: HP:0045074 replaced_by: HP:0045075 [Term] id: HP:0000539 name: Abnormality of refraction def: "An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025843 is_a: HP:0000478 ! Abnormality of the eye property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000540 name: Hypermetropia def: "An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry." [https://orcid.org/0000-0002-0736-9199] comment: The American Optometric Association subdivides hypermetropia into (i) low (up to +2D), moderate (2 to 5D), and high (over 5D). subset: hposlim_core synonym: "Farsightedness" EXACT layperson [] synonym: "Hyperopia" EXACT [] synonym: "Long-sightedness" EXACT layperson [] xref: MSH:D006956 xref: SNOMEDCT_US:38101003 xref: UMLS:C0020490 is_a: HP:0000539 ! Abnormality of refraction property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000544 name: External ophthalmoplegia alt_id: HP:0007762 def: "Paralysis of the external ocular muscles." [https://orcid.org/0000-0002-0736-9199] synonym: "Chronic progressive external ophthalmoplegia" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "CPEO" EXACT abbreviation [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463, https://orcid.org/0000-0002-5316-1399] synonym: "Ophthalmoplegia externa" EXACT [] synonym: "Paralysis or weakness of muscles within or surrounding outer part of eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Progressive paralysis or weakness of muscles of eye motility" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Progressive paralysis or weakness of muscles of eye movement" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] xref: MSH:D009886 xref: MSH:D017246 xref: SNOMEDCT_US:19373007 xref: SNOMEDCT_US:46252003 xref: UMLS:C0162292 xref: UMLS:C0162674 is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0000545 name: Myopia alt_id: HP:0001110 alt_id: HP:0007847 alt_id: HP:0008012 def: "An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Close sighted" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Near sighted" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Near sightedness" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Nearsightedness" EXACT layperson [] xref: DOID:11830 xref: ICD9:367.1 xref: MSH:D009216 xref: NCIt:C102533 xref: OMIM:614167 xref: OMIM:615420 xref: OMIM:615946 xref: SNOMEDCT:57190000 xref: SNOMEDCT_US:57190000 xref: UMLS:C0027092 is_a: HP:0000539 ! Abnormality of refraction property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000549 name: Abnormal conjugate eye movement def: "Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object." [https://orcid.org/0000-0002-0736-9199] synonym: "Disconjugate eye movements" EXACT [] xref: UMLS:C1845274 is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0000559 name: Corneal scarring xref: MSH:D065306 xref: SNOMEDCT_US:95726001 xref: UMLS:C0349702 is_a: HP:0007957 ! Corneal opacity is_a: HP:0100699 ! Scarring [Term] id: HP:0000565 name: Esotropia def: "A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more." [https://orcid.org/0000-0002-0736-9199] comment: Esotropia is analogous to but more severe thatn esophoria. Affected children are more likely to have amblyopia or require corrective eye muscle surgery than children with esophoria. subset: hposlim_core synonym: "Inward turning cross eyed" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D004948 xref: SNOMEDCT_US:16596007 xref: UMLS:C0014877 is_a: HP:0000486 ! Strabismus property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000572 name: Visual loss def: "Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that)." [https://orcid.org/0009-0006-4530-3154] synonym: "Loss of vision" EXACT layperson [] synonym: "Vision loss" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Visual loss" EXACT layperson [] xref: SNOMEDCT_US:7973008 xref: UMLS:C3665386 is_a: HP:0000505 ! Visual impairment property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000573 name: Retinal hemorrhage def: "Hemorrhage occurring within the retina." [HPO_CONTRIBUTOR:gcarletti] comment: The type of retinal hemorrhage and its clinical appearance depends on its location within the retina. subset: hposlim_core synonym: "Retinal bleeding" EXACT layperson [] synonym: "Retinal haemorrhage" EXACT uk_spelling [] synonym: "Retinal haemorrhages" EXACT uk_spelling [] synonym: "Retinal hemorrhages" EXACT plural_form [https://orcid.org/0000-0002-0736-9199] xref: MSH:D012166 xref: SNOMEDCT_US:28998008 xref: UMLS:C0035317 is_a: HP:0000479 ! Abnormal retinal morphology is_a: HP:0001892 ! Abnormal bleeding is_a: HP:0011028 ! Abnormality of blood circulation [Term] id: HP:0000577 name: Exotropia alt_id: HP:0008033 def: "A form of strabismus with one or both eyes deviated outward." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Outward facing eye ball" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: MSH:D005099 xref: SNOMEDCT_US:399054005 xref: SNOMEDCT_US:399252000 xref: UMLS:C0015310 is_a: HP:0000486 ! Strabismus [Term] id: HP:0000580 name: Pigmentary retinopathy alt_id: HP:0001146 alt_id: HP:0007702 alt_id: HP:0007821 alt_id: HP:0007852 alt_id: HP:0007869 alt_id: HP:0007934 alt_id: HP:0007961 alt_id: HP:0008010 def: "An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss." [https://orcid.org/0000-0003-0986-4123] synonym: "Pigmentary retinal deposits" EXACT [] synonym: "Retinal pigment clumping" EXACT [] synonym: "Retinal pigmentary clumping" EXACT [] synonym: "Retinal pigmentary degeneration" EXACT [] xref: MSH:D012174 xref: SNOMEDCT_US:28835009 xref: UMLS:C0035334 is_a: HP:0000479 ! Abnormal retinal morphology [Term] id: HP:0000581 name: Blepharophimosis alt_id: HP:0000507 alt_id: HP:0000513 def: "A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures." [PMID:19125427] comment: When the palpebral fissures are severely shortened, they cannot be widely separated, actively or passively. Blepharophimosis is an acknowledged bundled term (short vertical and horizontal distance). When palpebral fissures are severely shortened, they cannot be widely separated, actively or passively. Ptosis is the term to be used when the reduction in eyelid opening is not fixed but can be increased actively or passively. Blepharophimosis is often associated with Epicanthus inversus. subset: hposlim_core synonym: "Decreased width of palpebral fissure" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Narrow opening between the eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: MSH:D016569 xref: UMLS:C0005744 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000582 name: Upslanted palpebral fissure def: "The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age." [PMID:19125427] subset: hposlim_core synonym: "Mongoloid slant" EXACT [] synonym: "Upslanted palpebral fissures" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Upslanting palpebral fissures" EXACT [] synonym: "Upward slanted palpebral fissures" EXACT [] synonym: "Upward slanting of palpebral fissures" EXACT [] synonym: "Upward slanting of the opening between the eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Upward slanting palpebral fissures" EXACT [] xref: SNOMEDCT_US:246799009 xref: UMLS:C0423109 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000598 name: Abnormality of the ear def: "An abnormality of the ear." [https://orcid.org/0000-0002-0736-9199] comment: Either a morphological abnormality or hearing deficit. This should be split more cleanly in the future. subset: hposlim_core synonym: "Abnormality of the ear" EXACT layperson [] synonym: "Ear anomaly" EXACT [] xref: OMIM:607842 xref: SNOMEDCT_US:275259005 xref: UMLS:C0266589 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000603 name: Central scotoma def: "An area of depressed vision located at the point of fixation and that interferes with central vision." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Blind spot located at fixation point" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Central blind spot" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Central scotomata" EXACT [] xref: MSH:D012607 xref: SNOMEDCT_US:38950008 xref: UMLS:C0152191 xref: UMLS:C4280624 is_a: HP:0001123 ! Visual field defect [Term] id: HP:0000610 name: Abnormal choroid morphology alt_id: HP:0001122 def: "Any structural abnormality of the choroid." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the choroid" EXACT [] synonym: "Choroid disease" RELATED [] xref: MSH:D015862 xref: UMLS:C0008521 xref: UMLS:C4025836 is_a: HP:0004329 ! Abnormal posterior eye segment morphology [Term] id: HP:0000614 name: Abnormal nasolacrimal system morphology def: "An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity." [HPO_CONTRIBUTOR:DDD_ncarter] comment: The nasolacrimal system consists of the puncta, canaliculi, lacrimal sac, and nasolacrimal duct. subset: hposlim_core synonym: "Abnormality of the nasolacrimal system" EXACT [] xref: UMLS:C4025835 is_a: HP:0000271 ! Abnormality of the face property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000616 name: Miosis def: "Abnormal (non-physiological) constriction of the pupil." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Constricted pupils" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Pupillary constriction" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: MSH:D015877 xref: SNOMEDCT_US:63251006 xref: UMLS:C0026205 is_a: HP:0007686 ! Abnormal pupillary function [Term] id: HP:0000618 name: Blindness alt_id: HP:0007839 def: "Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation." [https://orcid.org/0000-0001-8727-6592, PMID:28779882] comment: Various scales have been developed to describe the extent of vision loss and define blindness. Total blindness is the complete lack of form and visual light perception and is clinically recorded as NLP (no light perception). Blindness is frequently used to describe severe visual impairment with residual vision. Those described as having only light perception have no more sight than the ability to tell light from dark and the general direction of a light source. subset: hposlim_core synonym: "Blindness" EXACT layperson [] synonym: "Legal blindness" RELATED layperson [] synonym: "Total vision loss" EXACT [] xref: Fyler:4866 xref: MSH:D001766 xref: SNOMEDCT_US:65956007 xref: UMLS:C0271215 xref: UMLS:C0456909 is_a: HP:0007663 ! Reduced visual acuity [Term] id: HP:0000622 name: Blurred vision alt_id: HP:0007723 def: "Lack of sharpness of vision resulting in the inability to see fine detail." [https://orcid.org/0000-0002-0736-9199] comment: This is a very nonspecific term and it is preferable to describe the correlates of blurred vision with the corresponding terms if possible. subset: hposlim_core synonym: "Blurred vision" EXACT layperson [] xref: SNOMEDCT_US:111516008 xref: SNOMEDCT_US:246636008 xref: UMLS:C0344232 is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0000629 name: Periorbital fullness def: "Increase in periorbital soft tissue." [https://orcid.org/0009-0006-4530-3154] synonym: "Fullness around the eyes" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Periorbital puffiness" EXACT [] synonym: "Periorbital swelling" EXACT [] synonym: "Puffiness around eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Puffy eyes" EXACT [] synonym: "Swelling around the eyes" EXACT [] xref: UMLS:C1858036 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000632 name: Lacrimation abnormality alt_id: HP:0000521 def: "Abnormality of tear production." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of tear production" EXACT layperson [] xref: UMLS:C4021801 is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0000639 name: Nystagmus def: "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Involuntary, rapid, rhythmic eye movements" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D009759 xref: SNOMEDCT_US:563001 xref: UMLS:C0028738 xref: UMLS:C1963184 is_a: HP:0000478 ! Abnormality of the eye property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000649 name: Abnormality of visual evoked potentials def: "An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex." [https://orcid.org/0000-0002-0736-9199, PMID:19826847] comment: The terms visually evoked potential (VEP), visually evoked response (VER) and visually evoked cortical potential (VECP) are equivalent. subset: hposlim_core synonym: "Abnormal vision evoked potentials" EXACT [] synonym: "Abnormal visual evoked potential" EXACT [] synonym: "Abnormal visual evoked responses" EXACT [] synonym: "Abnormal visual-evoked potentials" EXACT [] synonym: "VEP abnormalities" EXACT [] xref: SNOMEDCT_US:102968003 xref: UMLS:C0522214 is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0000651 name: Diplopia def: "Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Double vision" EXACT layperson [] xref: MSH:D004172 xref: SNOMEDCT_US:24982008 xref: UMLS:C0012569 is_a: HP:0000504 ! Abnormality of vision property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000664 name: Synophrys alt_id: HP:0002210 def: "Meeting of the medial eyebrows in the midline." [PMID:19125427] subset: hposlim_core synonym: "Monobrow" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Synophris" EXACT [] synonym: "Unibrow" EXACT layperson [] xref: SNOMEDCT_US:253207002 xref: UMLS:C0431447 is_a: HP:0000271 ! Abnormality of the face is_a: HP:0001574 ! Abnormality of the integument [Term] id: HP:0000666 name: Horizontal nystagmus def: "Nystagmus consisting of horizontal to-and-fro eye movements." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Nystagmus, horizontal" EXACT [] xref: MSH:D009759 xref: SNOMEDCT_US:81756001 xref: UMLS:C0271385 is_a: HP:0000639 ! Nystagmus [Term] id: HP:0000678 name: Dental crowding def: "Changes in alignment of teeth in the dental arch" [PMID:19125428, PMID:31468724] comment: Overlapping teeth within an alveolar ridge. subset: hposlim_core synonym: "Crowded teeth" EXACT layperson [] synonym: "Dental crowding" EXACT layperson [] synonym: "Dental overcrowding" EXACT layperson [] synonym: "Inadequate arch length for tooth size" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Overcrowding of teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Tooth mass arch size discrepancy" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Tooth size discrepancy" BROAD layperson [https://orcid.org/0000-0001-5889-4463] xref: MSH:D008310 xref: SNOMEDCT_US:12351004 xref: SNOMEDCT_US:699222000 xref: UMLS:C0040433 xref: UMLS:C1317785 xref: UMLS:C4280617 xref: UMLS:C4280618 is_a: HP:0000164 ! Abnormality of the dentition [Term] id: HP:0000680 name: Delayed eruption of primary teeth def: "Delayed tooth eruption affecting the primary dentition." [https://orcid.org/0000-0002-9338-3017] synonym: "Delayed eruption of baby teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Delayed eruption of deciduous teeth" EXACT [] synonym: "Delayed eruption of milk teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Delayed primary teeth eruption" EXACT [] synonym: "Late eruption of baby teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Late eruption of milk teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Late eruption of primary teeth" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1849538 is_a: HP:0000164 ! Abnormality of the dentition [Term] id: HP:0000682 name: Abnormal dental enamel morphology alt_id: HP:0006322 def: "An abnormality of the dental enamel." [https://orcid.org/0000-0002-0736-9199] comment: The dental enamel is the external layer of the teeth, being a highly mineralized substance consisting primarily of hydroxylapatite. subset: hposlim_core synonym: "Abnormal tooth enamel" EXACT layperson [] synonym: "Abnormality of dental enamel" EXACT [] synonym: "Defective tooth enamel" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Dystrophic tooth enamel" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Enamel abnormalities" EXACT layperson [] synonym: "Enamel abnormality" EXACT layperson [] synonym: "Malformation of dental enamel" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of tooth enamel" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4021800 xref: UMLS:C4280262 xref: UMLS:C4280615 is_a: HP:0000164 ! Abnormality of the dentition is_a: HP:0000924 ! Abnormality of the skeletal system is_a: HP:0003549 ! Abnormality of connective tissue [Term] id: HP:0000689 name: Dental malocclusion def: "Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns." [PMID:31468724] synonym: "Angle class 2 malocclusion" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Angle class 3 malocclusion" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Bad bite" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Bilateral crossbite" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Bilateral crossbite malocclusion" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Incorrect relation between upper and lower dental arches" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Malalignment of upper and lower dental arches" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malocclusion" EXACT [] synonym: "Malocclusion of teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Misalignment of upper and lower dental arches" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Occlusion anomaly" EXACT [] xref: MSH:D008310 xref: SNOMEDCT_US:47944004 xref: SNOMEDCT_US:707598004 xref: UMLS:C0024636 xref: UMLS:C4280613 xref: UMLS:C4280614 is_a: HP:0000164 ! Abnormality of the dentition property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000690 name: Agenesis of maxillary lateral incisor def: "Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor." [https://orcid.org/0000-0002-9338-3017] synonym: "Absence of maxillary lateral incisor" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Absence of upper lateral incisor" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Absent upper lateral incisors" EXACT [] synonym: "Failure of development of maxillary lateral incisor" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Missing maxillary lateral incisor" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Missing upper lateral incisor" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1849950 xref: UMLS:C4083046 is_a: HP:0009804 ! Tooth agenesis [Term] id: HP:0000699 name: Diastema def: "Increased space between two adjacent teeth in the same dental arch." [PMID:19125428] comment: Usually there is contact between the lateral aspects of the permanent teeth, at their broadest point. Diastema can apply to any pair of teeth and the term should be modified by a descriptor of the involved teeth. This descriptor must be distinguished from Widely spaced teeth. subset: hposlim_core synonym: "Dental diastasis" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Dental diastema" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Diastasis of the teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Diastema of the teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Gap between teeth" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Gaps between teeth" BROAD layperson [https://orcid.org/0000-0001-5889-4463] xref: MSH:D003970 xref: SNOMEDCT_US:35591002 xref: UMLS:C0011998 is_a: HP:0000164 ! Abnormality of the dentition [Term] id: HP:0000707 name: Abnormality of the nervous system alt_id: HP:0001333 alt_id: HP:0006987 def: "An abnormality of the nervous system." [https://orcid.org/0000-0002-0736-9199] comment: The nervous system comprises the neuraxis (brain, spinal cord, and ventricles), the autonomic nervous system, the enteric nervous system, and the peripheral nervous system. synonym: "Abnormality of the nervous system" EXACT layperson [] synonym: "Brain and/or spinal cord issue" BROAD layperson [] synonym: "Neurologic abnormalities" EXACT layperson [] synonym: "Neurological abnormality" EXACT layperson [] xref: ICD10:R29 xref: MSH:D009421 xref: SNOMEDCT_US:88425004 xref: UMLS:C0497552 is_a: HP:0000118 ! Phenotypic abnormality property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000708 name: Atypical behavior alt_id: HP:0000715 alt_id: HP:0002368 alt_id: HP:0002456 def: "Atypical behavior is an abnormality in a person's actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will." [] comment: Atypical behaviors should include or directly affect observable actions. While behavioral disorders often encompass abnormal thoughts, feelings, perceptions, or other cognitions, these alone would not be considered atypical behavioral features. synonym: "Behavioral abnormality" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Behavioral changes" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Behavioral disorders" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Behavioral disturbances" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Behavioral problems" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Behavioral symptoms" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Behavioral/psychiatric abnormalities" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Behavioural abnormality" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Behavioural changes" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Behavioural disorders" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Behavioural disturbances" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Behavioural problems" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Behavioural symptoms" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Behavioural/Psychiatric abnormality" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Behavioural/psychiatric abnormality" EXACT [] synonym: "Psychiatric disorders" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Psychiatric disturbances" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] xref: HP:0000708 xref: MSH:D000066553 xref: MSH:D001526 xref: SNOMEDCT_US:25786006 xref: SNOMEDCT_US:277843001 xref: UMLS:C0004941 xref: UMLS:C0233514 is_a: HP:0011446 ! Abnormality of mental function property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4422-1708 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389 [Term] id: HP:0000712 name: Emotional lability alt_id: HP:0000720 alt_id: HP:0001575 alt_id: HP:0008766 def: "Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances." [] synonym: "Emotional instability" EXACT layperson [] synonym: "Mood alterations" EXACT [] synonym: "Mood changes" EXACT layperson [] synonym: "Mood lability" EXACT [] synonym: "Mood swings" EXACT layperson [] xref: SNOMEDCT_US:18963009 xref: UMLS:C0085633 is_a: HP:0000708 ! Atypical behavior is_a: HP:0100851 ! Abnormal emotion property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-1111-7357 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7954-5235 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2897-0458 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4298-5074 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4618-6544 [Term] id: HP:0000713 name: Agitation def: "A state of extreme restlessness and excessive motor activity is associated with mental distress or a feeling of inner tension." [] synonym: "Psychomotor agitation" EXACT [] xref: SNOMEDCT_US:24199005 xref: UMLS:C0085631 is_a: HP:0000708 ! Atypical behavior property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-1111-7357 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4422-1708 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7954-5235 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2897-0458 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4298-5074 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4618-6544 [Term] id: HP:0000720 name: obsolete Mood swings is_obsolete: true replaced_by: HP:0000712 [Term] id: HP:0000725 name: Psychotic episodes def: "Periods of time during which an individual experiences significant disturbances in their thoughts, perceptions, emotions, and behavior, resulting in a loss of touch with reality. These episodes are hallmark features of psychotic disorders such as schizophrenia, schizoaffective disorder, and certain forms of bipolar disorder." [] synonym: "Psychotic episodes" EXACT layperson [] xref: UMLS:C0338614 is_a: HP:0011446 ! Abnormality of mental function property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-7062-8192 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-7941-2961 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9221-9226 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0183-1637 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1785-7126 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2291-6952 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4958-6025 [Term] id: HP:0000732 name: Inflexible adherence to routines def: "A need to strictly adhere to repetitive routines or patterns of behavior which are created by the environment. One becomes upset or distressed when their routines are disrupted or altered." [] xref: UMLS:C1837653 is_a: HP:0000708 ! Atypical behavior property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4422-1708 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389 [Term] id: HP:0000733 name: Abnormal repetitive mannerisms alt_id: HP:0008758 alt_id: HP:0008759 def: "Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose." [] synonym: "Motor stereotypy" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "repetitive behavior" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "repetitive behaviour" EXACT uk_spelling [] synonym: "Repetitive behaviour Stereotypic behavior" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Repetitive behaviour Stereotypic behaviour" EXACT uk_spelling [] synonym: "Repetitive movements" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0001-9114-8737, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Stereotyped" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Stereotyped behavior" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Stereotyped behaviors" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Stereotyped behaviour" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Stereotyped behaviours" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Stereotypic behaviour" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Stereotypic behaviours" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Stereotypical motor behavior" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Stereotypical motor behaviors" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Stereotypical motor behaviour" EXACT uk_spelling [] synonym: "Stereotypical motor behaviours" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Stimming" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] xref: MSH:D013239 xref: MSH:D019956 xref: SNOMEDCT_US:5507002 xref: SNOMEDCT_US:84328007 xref: UMLS:C0038271 xref: UMLS:C0038273 is_a: HP:0000708 ! Atypical behavior property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4422-1708 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389 [Term] id: HP:0000735 name: Impaired social interactions def: "Difficulty interacting with others through emotional, physical, or verbal communication." [] synonym: "Impaired social interaction" EXACT layperson [] synonym: "Impaired social interactions" EXACT layperson [] synonym: "Poor social interactions" EXACT layperson [] xref: MSH:D000067404 xref: SNOMEDCT_US:88598008 xref: UMLS:C0150080 is_a: HP:0000708 ! Atypical behavior property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-5395-5036 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-6886-767X property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8423-2623 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9114-8737 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0375-6247 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-2414-5605 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4487-3589 [Term] id: HP:0000736 name: Short attention span def: "Reduced attention span characterized by distractibility and impulsivity." [PMID:26386541] synonym: "Easily distracted" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Poor attention span" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Problem paying attention" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Short attention span" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] xref: SNOMEDCT_US:247762003 xref: UMLS:C0262630 is_a: HP:0100543 ! Cognitive impairment property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4422-1708 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389 [Term] id: HP:0000737 name: Irritability def: "A proneness to anger, i.e., a tendency to become easily bothered or annoyed." [] synonym: "Irritability" EXACT layperson [] synonym: "Irritable" EXACT layperson [] synonym: "Irritable mood" EXACT [] xref: UMLS:C2700617 is_a: HP:0100851 ! Abnormal emotion property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-1111-7357 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7954-5235 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2897-0458 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4298-5074 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4618-6544 [Term] id: HP:0000738 name: Hallucinations def: "Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space." [] synonym: "Hallucination" EXACT layperson [] synonym: "Hallucinations" EXACT layperson [] synonym: "Sensory hallucination" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: MSH:D006212 xref: SNOMEDCT_US:7011001 xref: UMLS:C0018524 xref: UMLS:C0235153 is_a: HP:0011446 ! Abnormality of mental function property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-7062-8192 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-7941-2961 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9221-9226 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0183-1637 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1785-7126 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2291-6952 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4958-6025 [Term] id: HP:0000746 name: Delusion def: "A delusion is a fixed false belief held despite evidence to the contrary. The term delusion broadly encompasses all false judgments that possess the following external characteristics to a significant, albeit unspecified, extent: (1) they are held with an exceptional level of conviction, accompanied by an unparalleled subjective certainty; (2) there is an inability to consider alternative experiences or compelling counter-arguments; (3) the content of the belief is impossible." [] synonym: "Delusions" EXACT layperson [] xref: MSH:D003702 xref: SNOMEDCT_US:2073000 xref: UMLS:C0011253 is_a: HP:0011446 ! Abnormality of mental function property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-7062-8192 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-7941-2961 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9221-9226 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0183-1637 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1785-7126 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2291-6952 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4958-6025 [Term] id: HP:0000750 name: Delayed speech and language development alt_id: HP:0002116 alt_id: HP:0002117 alt_id: HP:0002336 alt_id: HP:0002399 alt_id: HP:0002498 alt_id: HP:0006936 alt_id: HP:0007004 alt_id: HP:0007127 alt_id: HP:0007170 alt_id: HP:0007172 def: "A degree of language development that is significantly below the norm for a child of a specified age." [https://orcid.org/0000-0002-0736-9199] comment: Language delay can be characterized by a failure to meet the developmental milestones for language development, an inability to follow directions, or slow or incomprehensible speech after the age of three years, as well as with severe problems with syntax or articulation. synonym: "Deficiency of speech development" EXACT layperson [] synonym: "Delayed language development" EXACT layperson [] synonym: "Delayed speech" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Delayed speech acquisition" EXACT layperson [] synonym: "Delayed speech and language development" EXACT layperson [] synonym: "Delayed speech development" EXACT layperson [] synonym: "Impaired speech and language development" EXACT layperson [] synonym: "Impaired speech development" EXACT layperson [] synonym: "Language delay" EXACT layperson [] synonym: "Language delayed" EXACT layperson [] synonym: "Language development deficit" EXACT layperson [] synonym: "Late-onset speech development" EXACT layperson [] synonym: "Poor language development" EXACT layperson [] synonym: "Poor speech acquisition" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Poor speech development" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Speech and language delay" EXACT layperson [] synonym: "Speech and language difficulties" EXACT layperson [] synonym: "Speech delay" EXACT layperson [] synonym: "Speech difficulties" RELATED layperson [] xref: MSH:D007805 xref: SNOMEDCT_US:162294008 xref: SNOMEDCT_US:229721007 xref: SNOMEDCT_US:29164008 xref: SNOMEDCT_US:62415009 xref: UMLS:C0023012 xref: UMLS:C0233715 xref: UMLS:C0241210 xref: UMLS:C0454644 is_a: HP:0002167 ! Abnormality of speech or vocalization is_a: HP:0012758 ! Neurodevelopmental delay [Term] id: HP:0000751 name: Personality changes def: "An abnormal shift in patterns of thinking, acting, or feeling." [] comment: This term refers to changes in personality that are perceived as abnormal. It does not refer to the usual gradual personality changes that tend to accompany aging and certain life situations. synonym: "Personality change" EXACT layperson [] synonym: "Personality changes" EXACT layperson [] xref: SNOMEDCT_US:102943000 xref: SNOMEDCT_US:192073007 xref: UMLS:C0240735 is_a: HP:0000708 ! Atypical behavior property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-1111-7357 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7954-5235 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2897-0458 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4298-5074 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4618-6544 [Term] id: HP:0000753 name: Autism with high cognitive abilities xref: UMLS:C4025832 is_a: HP:0000708 ! Atypical behavior [Term] id: HP:0000758 name: Abnormal nonverbal communicative behavior def: "Abnormalities in eye contact, communicative facial expressions, gesture use, or the use of others' bodies to communicate convey shared meanings within a culture that replace or supplement verbal communication." [] synonym: "Abnormal nonverbal communicative behaviour" EXACT [] synonym: "Impaired use of nonverbal behaviors" EXACT layperson [https://orcid.org/0000-0001-9112-5148, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-6670-9157, https://orcid.org/0000-0002-9593-5508] synonym: "Impaired use of nonverbal behaviours" EXACT layperson [https://orcid.org/0000-0001-9112-5148, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-6670-9157, https://orcid.org/0000-0002-9593-5508] xref: UMLS:C4021798 is_a: HP:0011446 ! Abnormality of mental function property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-5395-5036 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-6886-767X property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8423-2623 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9112-5148 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9114-8737 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0375-6247 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-2414-5605 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4487-3589 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-6670-9157 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-9593-5508 [Term] id: HP:0000762 name: Decreased nerve conduction velocity alt_id: HP:0000761 alt_id: HP:0007118 alt_id: HP:0007218 alt_id: HP:0007231 def: "A reduction in the speed at which electrical signals propagate along the axon of a neuron." [https://orcid.org/0000-0002-0736-9199] comment: Nerve conduction velocity is usually measured with surface electrodes placed on the skin over nerves at various locations. Following stimulation at one electrode, the speed at which the signal is propagated to other electrodes is recorded. Abnormal values may suggest demyelination, a conduction block, or axonopathy. synonym: "Decreased NCV" EXACT [] synonym: "Decreased nerve conduction velocities" EXACT [] synonym: "Delayed nerve conduction velocity" EXACT [] synonym: "Reduced nerve conduction velocities" EXACT [] synonym: "Slow nerve conduction velocity" EXACT [] synonym: "Slowed nerve conduction velocities" EXACT [] xref: UMLS:C1857640 is_a: HP:0012638 ! Abnormal nervous system physiology [Term] id: HP:0000763 name: Sensory neuropathy alt_id: HP:0003410 alt_id: HP:0006815 alt_id: HP:0007043 alt_id: HP:0007142 def: "Peripheral neuropathy affecting the sensory nerves." [https://orcid.org/0000-0002-0736-9199] synonym: "Damage to nerves that sense feeling" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Peripheral sensory neuropathy" EXACT [] xref: SNOMEDCT_US:95662005 xref: UMLS:C0151313 is_a: HP:0012638 ! Abnormal nervous system physiology [Term] id: HP:0000765 name: Abnormal thorax morphology alt_id: HP:0100655 def: "Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs)." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the chest" EXACT layperson [] synonym: "Abnormality of the thorax" EXACT [] synonym: "Structural abnormality of the chest wall" EXACT [] xref: UMLS:C4021797 is_a: HP:0011842 ! Abnormal skeletal morphology property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000766 name: Abnormal sternum morphology alt_id: HP:0000780 alt_id: HP:0006586 alt_id: HP:0006594 alt_id: HP:0006605 alt_id: HP:0006630 alt_id: HP:0006708 def: "An anomaly of the sternum, also known as the breastbone." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the sternum" EXACT layperson [] synonym: "Pectus carinatum or pectus excavatum" EXACT [] synonym: "Pectus deformities" EXACT [] synonym: "Pectus deformity" EXACT [] synonym: "Pectus excavatum or carinatum" EXACT [] synonym: "Pectus excavatum or pectus carinatum" EXACT [] synonym: "Pectus excavatum/carinatum" EXACT [] synonym: "Sternal anomalies" EXACT layperson [] xref: UMLS:C1860493 is_a: HP:0000765 ! Abnormal thorax morphology [Term] id: HP:0000767 name: Pectus excavatum alt_id: HP:0006613 alt_id: HP:0006617 def: "A defect of the chest wall characterized by a depression of the sternum, giving the chest (\"pectus\") a caved-in (\"excavatum\") appearance." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Funnel chest" EXACT layperson [] xref: SNOMEDCT_US:391987005 xref: UMLS:C2051831 is_a: HP:0000766 ! Abnormal sternum morphology [Term] id: HP:0000768 name: Pectus carinatum alt_id: HP:0006639 def: "A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Pigeon chest" EXACT layperson [https://en.wikipedia.org/wiki/pectus_carinatum, https://orcid.org/0000-0001-5208-3432] xref: MSH:D066166 xref: SNOMEDCT_US:205101001 xref: UMLS:C0158731 is_a: HP:0000766 ! Abnormal sternum morphology [Term] id: HP:0000769 name: Abnormality of the breast def: "An abnormality of the breast." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the breast" EXACT layperson [] xref: ICD10:Q83 xref: UMLS:C4025829 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000771 name: Gynecomastia alt_id: HP:0000770 def: "Abnormal development of large mammary glands in males resulting in breast enlargement." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Enlarged male breast" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Gynaecomastia" EXACT [] xref: MSH:D006177 xref: SNOMEDCT_US:4754008 xref: UMLS:C0018418 is_a: HP:0000769 ! Abnormality of the breast [Term] id: HP:0000774 name: Narrow chest alt_id: HP:0000909 alt_id: HP:0005252 alt_id: HP:0006588 def: "Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder." [https://orcid.org/0000-0002-0736-9199] synonym: "Low chest circumference" EXACT layperson [] synonym: "Narrow chest" EXACT layperson [] synonym: "Narrow shoulders" EXACT layperson [] synonym: "Narrow thorax" EXACT [] synonym: "Reduced anterior-posterior chest diameter" EXACT [] xref: SNOMEDCT_US:249671009 xref: UMLS:C0426790 is_a: HP:0000765 ! Abnormal thorax morphology [Term] id: HP:0000775 name: Abnormality of the diaphragm alt_id: HP:0005204 def: "Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the diaphragm" EXACT layperson [] synonym: "Diaphragm issues" EXACT layperson [] synonym: "Diaphragmatic defect" EXACT layperson [] xref: UMLS:C1848873 is_a: HP:0011805 ! Abnormal skeletal muscle morphology [Term] id: HP:0000786 name: Primary amenorrhea xref: SNOMEDCT_US:8913004 xref: UMLS:C0232939 is_a: HP:0000078 ! Abnormality of the genital system [Term] id: HP:0000790 name: Hematuria def: "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [https://orcid.org/0000-0002-0736-9199] synonym: "Blood in urine" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "High urine occult blood" BROAD layperson [] xref: MSH:D006417 xref: SNOMEDCT_US:34436003 xref: SNOMEDCT_US:53298000 xref: UMLS:C0018965 is_a: HP:0012211 ! Abnormal renal physiology is_a: HP:0012614 ! Abnormal urine cytology property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000800 name: Cystic renal dysplasia alt_id: HP:0008737 synonym: "Bilateral cystic dysplasia" EXACT [] synonym: "Renal cystic dysplasia" EXACT [] synonym: "Renal dysplasia, cystic" EXACT [] xref: UMLS:C1834931 is_a: HP:0000107 ! Renal cyst [Term] id: HP:0000802 name: Impotence def: "Inability to develop or maintain an erection of the penis." [https://orcid.org/0000-0002-0736-9199] synonym: "Difficulty getting a full erection" EXACT layperson [] synonym: "Difficulty getting an erection" EXACT layperson [] xref: MSH:D007172 xref: SNOMEDCT_US:397803000 xref: UMLS:C0242350 is_a: HP:0000078 ! Abnormality of the genital system [Term] id: HP:0000803 name: Renal cortical cysts def: "Cysts of the cortex of the kidney." [HPO_CONTRIBUTOR:Eurenomics_fschaefer] synonym: "Cortical cysts" EXACT [] xref: UMLS:C1969144 is_a: HP:0000107 ! Renal cyst is_a: HP:0011035 ! Abnormal renal cortex morphology [Term] id: HP:0000815 name: Hypergonadotropic hypogonadism alt_id: HP:0008679 def: "Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypergonadotrophic hypogonadism" EXACT [] synonym: "Primary hypogonadism" EXACT [] xref: MSH:D007006 xref: SNOMEDCT_US:370999003 xref: UMLS:C0948896 is_a: HP:0000078 ! Abnormality of the genital system is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0000817 name: Reduced eye contact def: "A reduced frequency or duration of eye contact." [] comment: Eye contact, defined as the meeting of the gaze between two people during a conversation, is an important form of nonverbal communication. synonym: "Poor eye contact" EXACT layperson [https://orcid.org/0000-0001-9112-5148, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-6670-9157, https://orcid.org/0000-0002-9593-5508] xref: SNOMEDCT_US:412786000 xref: UMLS:C1445953 is_a: HP:0000758 ! Abnormal nonverbal communicative behavior property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9112-5148 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-6670-9157 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-9593-5508 [Term] id: HP:0000818 name: Abnormality of the endocrine system def: "An abnormality of the endocrine system." [https://orcid.org/0000-0002-0736-9199] comment: The endocrine system is composed of glands that secrete hormones directly into the bloodstream and includes the following glands: thyroid, parathyroids, adrenals, pancreas, gonads (testicles and ovaries), and pituitary. Many other organs, such as the kidney, liver, and heart, have secondary endocrine functions. synonym: "Endocrine system disease" RELATED [] xref: MSH:D004700 xref: SNOMEDCT_US:362969004 xref: UMLS:C0014130 xref: UMLS:C4025823 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000820 name: Abnormality of the thyroid gland def: "An abnormality of the thyroid gland." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the thyroid gland" EXACT layperson [] synonym: "Thyroid abnormality" EXACT layperson [] synonym: "Thyroid disease" RELATED layperson [] xref: MSH:D013959 xref: SNOMEDCT_US:14304000 xref: UMLS:C0040128 xref: UMLS:C2186538 is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0000823 name: Delayed puberty alt_id: HP:0008859 alt_id: HP:0010466 alt_id: HP:0010467 def: "Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty." [https://orcid.org/0000-0002-0736-9199] comment: The age at which delayed puberty may be diagnosed in a person without signs of secondary sexual development is 13 years in a girl or 14 years in a boy. synonym: "Delayed pubertal development" EXACT layperson [] synonym: "Delayed pubertal growth" EXACT layperson [] synonym: "Delayed puberty" EXACT layperson [] synonym: "Pubertal delay" EXACT layperson [https://orcid.org/0000-0002-5316-1399] xref: MSH:D011628 xref: SNOMEDCT_US:123526007 xref: SNOMEDCT_US:400003000 xref: UMLS:C0034012 is_a: HP:0000818 ! Abnormality of the endocrine system is_a: HP:0001510 ! Growth delay [Term] id: HP:0000824 name: Decreased response to growth hormone stimulation test alt_id: HP:0000861 alt_id: HP:0008195 alt_id: HP:0008206 def: "Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests." [https://orcid.org/0000-0002-0736-9199, PMID:25914878] comment: GH stimulation tests are performed with various stimuli, such as insulin, L-dopa, arginine, and growth hormone releasing hormone (GHRH). The test using insulin as a stimulus is classically recommended, but this test has potential risks such as hypoglycemia. The effects of growth hormone are mediated almost exclusively by insulin-like growth factor 1(IGF-1), which is produced primarily in the liver. Growth hormone deficiency refers to inadequate levels of GH (and therefore IGF-1), resulting in growth retardation in children and metabolic disturbances in adults. synonym: "Growth hormone deficiency" EXACT layperson [] synonym: "Somatotropin deficiency" EXACT [] xref: SNOMEDCT_US:2109003 xref: UMLS:C3714796 is_a: HP:0000818 ! Abnormality of the endocrine system is_a: HP:0012443 ! Abnormal brain morphology [Term] id: HP:0000833 name: obsolete Glucose intolerance xref: DOID:10603 xref: MeSH:D018149 xref: UMLS:C0271650 is_obsolete: true replaced_by: HP:0001952 [Term] id: HP:0000834 name: Abnormality of the adrenal glands def: "Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys." [https://orcid.org/0000-0002-0736-9199] synonym: "Adrenal abnormalities" EXACT layperson [] synonym: "Adrenal gland disease" RELATED layperson [] xref: MSH:D000307 xref: SNOMEDCT_US:30171000 xref: UMLS:C0001621 xref: UMLS:C4021794 is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0000842 name: Hyperinsulinemia def: "An increased concentration of insulin in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Elevated insulin level" EXACT [] xref: MSH:D006946 xref: SNOMEDCT_US:83469008 xref: UMLS:C0020459 is_a: HP:0003117 ! Abnormal circulating hormone concentration is_a: HP:0011014 ! Abnormal glucose homeostasis [Term] id: HP:0000857 name: Neonatal insulin-dependent diabetes mellitus xref: UMLS:C3278636 is_a: EFO:0000400 ! diabetes mellitus is_a: HP:0000818 ! Abnormality of the endocrine system is_a: HP:0001952 ! Glucose intolerance [Term] id: HP:0000863 name: Central diabetes insipidus alt_id: HP:0008210 def: "A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus." [https://orcid.org/0000-0002-0736-9199] synonym: "Neurohypophyseal diabetes insipidus" EXACT [] xref: MSH:D020790 xref: SNOMEDCT_US:45369008 xref: UMLS:C0687720 is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0000876 name: Oligomenorrhea def: "Infrequent menses (less than 6 per year or more than 35 days between cycles)." [https://orcid.org/0000-0002-0736-9199, PMID:22594864] synonym: "Light or infrequent menstrual periods" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D009839 xref: SNOMEDCT_US:52073004 xref: UMLS:C0028949 is_a: HP:0000078 ! Abnormality of the genital system [Term] id: HP:0000892 name: Bifid ribs def: "A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray." [https://orcid.org/0000-0002-0736-9199] synonym: "Cleft ribs" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Split ribs" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4721788 is_a: HP:0000765 ! Abnormal thorax morphology [Term] id: HP:0000902 name: Rib fusion alt_id: HP:0000880 def: "Complete or partial merging of adjacent ribs." [https://orcid.org/0000-0002-0736-9199] synonym: "Fused ribs" EXACT layperson [] synonym: "Rib fusion" EXACT layperson [] xref: UMLS:C1844749 is_a: HP:0000765 ! Abnormal thorax morphology [Term] id: HP:0000921 name: Missing ribs alt_id: HP:0000881 alt_id: HP:0006627 def: "A developmental anomaly with absence of one or more ribs." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Absent ribs" EXACT layperson [] synonym: "Decreased rib number" EXACT layperson [] synonym: "Missing ribs" EXACT layperson [] xref: SNOMEDCT_US:249695006 xref: UMLS:C0426816 is_a: HP:0000765 ! Abnormal thorax morphology [Term] id: HP:0000924 name: Abnormality of the skeletal system def: "An abnormality of the skeletal system." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the skeletal system" EXACT layperson [] synonym: "Skeletal abnormalities" EXACT layperson [] synonym: "Skeletal anomalies" EXACT layperson [] xref: ICD10:R29 xref: UMLS:C4021790 is_a: HP:0000118 ! Phenotypic abnormality property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000925 name: Abnormality of the vertebral column def: "Any abnormality of the vertebral column." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal spine" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormal vertebral column" EXACT layperson [] synonym: "Abnormality of the backbone" RELATED layperson [] synonym: "Abnormality of the spine" EXACT layperson [] synonym: "Abnormality of the vertebral column" EXACT layperson [] xref: UMLS:C4020882 xref: UMLS:C4021789 is_a: HP:0011842 ! Abnormal skeletal morphology property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000929 name: Abnormal skull morphology def: "An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the skull" EXACT layperson [] synonym: "Abnormality of the skull bones" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C0235942 is_a: HP:0000234 ! Abnormality of the head is_a: HP:0011842 ! Abnormal skeletal morphology [Term] id: HP:0000932 name: Abnormal posterior cranial fossa morphology alt_id: HP:0007306 def: "An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum." [https://orcid.org/0000-0002-0736-9199, PMID:25970099, PMID:28295149] comment: The floor of the cranial cavity is divided into three distinct depressions called the anterior, middle, and posterior cranial fossa. The posterior cranial fossa, the most posterior and deep of the three cranial fossae, accommodates the brainstem and cerebellum. Abnormalities of the posterier cranial fossa can be demonstrated by cerebral magnetic resonance imaging or computer tomography. synonym: "Abnormality of the posterior cranial fossa" EXACT [] synonym: "Abnormality of the posterior fossa" EXACT [] synonym: "Posterior fossa anomaly" EXACT [] xref: UMLS:C3280768 is_a: HP:0000929 ! Abnormal skull morphology [Term] id: HP:0000934 name: Chondrocalcinosis def: "Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) ." [https://orcid.org/0009-0006-4530-3154] synonym: "Calcium deposits in joints" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D002805 xref: SNOMEDCT_US:201637001 xref: SNOMEDCT_US:239832006 xref: SNOMEDCT_US:239838005 xref: UMLS:C0553730 is_a: HP:0003549 ! Abnormality of connective tissue is_a: HP:0011842 ! Abnormal skeletal morphology property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000938 name: Osteopenia alt_id: HP:0002768 alt_id: HP:0002799 alt_id: HP:0002800 def: "Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5." [https://orcid.org/0000-0002-0736-9199, PMID:21234807] synonym: "Generalised osteopenia" EXACT uk_spelling [] synonym: "Generalized osteopenia" EXACT [] synonym: "Osteopaenia" EXACT uk_spelling [] xref: MSH:D001851 xref: NCIt:C50910 xref: SNOMEDCT:312894000 xref: SNOMEDCT:78441005 xref: SNOMEDCT_US:312894000 xref: SNOMEDCT_US:78441005 xref: UMLS:C0029453 xref: UMLS:C0747078 is_a: HP:0004349 ! Reduced bone mineral density property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000951 name: Abnormality of the skin alt_id: HP:0001478 alt_id: HP:0001479 alt_id: HP:0005591 alt_id: HP:0006736 alt_id: HP:0007415 alt_id: HP:0007580 def: "An abnormality of the skin." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the skin" EXACT layperson [] synonym: "Dermatopathy" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Dermopathy" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Skin abnormality" RELATED [] xref: ICD10:R23 xref: MSH:D012868 xref: MSH:D012871 xref: SNOMEDCT_US:199879009 xref: SNOMEDCT_US:95320005 xref: UMLS:C0037268 xref: UMLS:C0037274 is_a: HP:0001574 ! Abnormality of the integument relationship: RO:0002314 UBERON:0000014 ! inheres in part of zone of skin property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000952 name: Jaundice def: "Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [https://orcid.org/0000-0002-0736-9199] synonym: "Icterus" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Jaundice" EXACT layperson [] synonym: "Yellow skin" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Yellowing of the skin" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: ICD10:R17 xref: MSH:D007565 xref: SNOMEDCT_US:18165001 xref: UMLS:C0022346 is_a: HP:0001392 ! Abnormality of the liver is_a: HP:0011121 ! Abnormal skin morphology property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000954 name: Single transverse palmar crease alt_id: HP:0006214 def: "The distal and proximal transverse palmar creases are merged into a single transverse palmar crease." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] comment: The presence of a single palmar crease (instead of the two palmar creases that are typically present). subset: hposlim_core synonym: "Simian crease" EXACT [] synonym: "Simian creases" EXACT [] synonym: "Simian line" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Single flexion crease" EXACT [] synonym: "Single palmar crease" EXACT [] synonym: "Single palmar creases" EXACT [] synonym: "Single transverse palmar creases" EXACT [] synonym: "Transverse palmar crease" EXACT [] xref: SNOMEDCT_US:248409006 xref: UMLS:C0424731 is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0011121 ! Abnormal skin morphology [Term] id: HP:0000957 name: Cafe-au-lait spot alt_id: HP:0005601 alt_id: HP:0007454 def: "Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children." [https://orcid.org/0000-0002-0736-9199] comment: The phrase cafe-au-lait comes from the French word for milk-coffee. A single cafe-au-lait spot can be an isolated finding in otherwise normal individuals. Multiple cafe-au-lait spots often indicate the presence of neurofibromatosis type 1 but may also be seen in other diseases including McCune-Albright syndrome, tuberous sclerosis, and Fanconi anemia. synonym: "Birthmark" BROAD layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Cafe au lait spots" EXACT [] synonym: "Cafe-au-lait macule" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Cafe-au-lait macules" EXACT [] synonym: "Cafe-au-lait spots" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Flat light-brown mark on skin" BROAD layperson [] xref: MSH:D019080 xref: SNOMEDCT_US:201281002 xref: SNOMEDCT_US:51089004 xref: UMLS:C0221263 xref: UMLS:C0265974 is_a: HP:0011121 ! Abnormal skin morphology property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000958 name: Dry skin def: "Skin characterized by the lack of natural or normal moisture." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Dry skin" EXACT layperson [] synonym: "Xerosis" EXACT [] xref: MEDDRA:10048222 "Xerosis" xref: SNOMEDCT_US:16386004 xref: UMLS:C0151908 xref: UMLS:C0259817 is_a: HP:0011121 ! Abnormal skin morphology property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000960 name: Sacral dimple def: "A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft." [https://orcid.org/0000-0002-0736-9199, PMID:28245993] subset: hposlim_core synonym: "Pilonidal dimple" EXACT [] synonym: "Spinal dimple" EXACT layperson [https://en.wikipedia.org/wiki/sacral_dimple, https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:249729002 xref: SNOMEDCT_US:311897005 xref: UMLS:C0426848 is_a: HP:0000925 ! Abnormality of the vertebral column is_a: HP:0011121 ! Abnormal skin morphology [Term] id: HP:0000964 name: Eczema alt_id: HP:0001481 def: "Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding." [https://orcid.org/0000-0002-0736-9199] comment: Eczema has several forms including atopic dermatitis, contact dermatitis, dyshidrotic eczema, nummular eczema, seborrheic dermatitis, and stasis dermatitis. synonym: "Eczema" EXACT layperson [] xref: ICD10:L27 xref: MSH:D004485 xref: NCIt:C3001 xref: SNOMEDCT:43116000 xref: SNOMEDCT_US:281104002 xref: SNOMEDCT_US:43116000 xref: UMLS:C0013595 is_a: HP:0011123 ! Inflammatory abnormality of the skin property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000974 name: Hyperextensible skin alt_id: HP:0007389 alt_id: HP:0007493 alt_id: HP:0007578 def: "A condition in which the skin can be stretched beyond normal, and then returns to its initial position." [https://orcid.org/0009-0006-4530-3154] comment: Skin hyperelasticity is to be distinguished from cutis laxa, which refers to extra, redundant skin which tends to hang in folds. subset: hposlim_core synonym: "Hyperelastic skin" EXACT layperson [] synonym: "Skin hyperelasticity" EXACT layperson [] synonym: "Skin hyperextensibility" EXACT [] synonym: "Stretchable skin" EXACT layperson [] xref: UMLS:C0241074 is_a: HP:0008067 ! Abnormally lax or hyperextensible skin [Term] id: HP:0000975 name: Hyperhidrosis alt_id: HP:0001011 alt_id: HP:0001064 alt_id: HP:0007424 def: "Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather." [https://orcid.org/0000-0002-0736-9199] comment: The terms hyperhidrosis and diaphoresis are often used interchangeably to describe excessive perspiration. Diaphoresis can be used to refer to excessive sweating that occurs with certain diseases (secondary hyperhidrosis). Since the HPO does not intend to provide coess for etiologies or diseases, we will use these terms interchangeably to refer to excessive perspiration without an appropriate cause such as hot and humid weather. subset: hposlim_core synonym: "Diaphoresis" EXACT [] synonym: "Excessive sweating" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Increased sweating" EXACT layperson [] synonym: "Profuse sweating" EXACT layperson [] synonym: "Sweating" EXACT layperson [] synonym: "Sweating profusely" EXACT layperson [] synonym: "Sweating, increased" EXACT layperson [] xref: MEDDRA:10020642 "Hyperhidrosis" xref: MSH:D006945 xref: MSH:D013546 xref: SNOMEDCT_US:161857006 xref: SNOMEDCT_US:312230002 xref: SNOMEDCT_US:364538006 xref: SNOMEDCT_US:415690000 xref: SNOMEDCT_US:415691001 xref: SNOMEDCT_US:52613005 xref: UMLS:C0020458 xref: UMLS:C0038990 xref: UMLS:C0700590 is_a: HP:0001574 ! Abnormality of the integument property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000978 name: Bruising susceptibility alt_id: HP:0000959 alt_id: HP:0007433 alt_id: HP:0007472 def: "An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma." [https://orcid.org/0000-0002-0736-9199] comment: An ecchymosis is defined as being larger than 1 cm in size. synonym: "Bruisability" EXACT [] synonym: "Bruise easily" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Bruising susceptibility" EXACT layperson [] synonym: "Easy bruisability" EXACT layperson [] synonym: "Easy bruising" EXACT layperson [] xref: MSH:D004438 xref: SNOMEDCT_US:302227002 xref: SNOMEDCT_US:424131007 xref: SNOMEDCT_US:425075004 xref: SNOMEDCT_US:77643000 xref: UMLS:C0013491 xref: UMLS:C0423798 is_a: HP:0001933 ! Subcutaneous hemorrhage property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000979 name: Purpura def: "Purpura (from Latin: purpura, meaning \"purple\") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae." [https://orcid.org/0000-0002-0736-9199, PMID:11515831] comment: Depending on their size, purpuric lesions are traditionally classified as petechiae (pinpoint hemorrhages less than 2 mm in greatest diameter), purpura (2 mm to 1 cm) or ecchymoses (more than 1 cm). subset: hposlim_core synonym: "Blood spots" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Red or purple spots on the skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: DOID:3326 xref: ICD10:D69 xref: MeSH:D011693 xref: MSH:D011693 xref: NCIt:C78787 xref: SNOMEDCT_US:12393003 xref: SNOMEDCT_US:387778001 xref: SNOMEDCT_US:423902002 xref: UMLS:C0034150 xref: Wikipedia:Purpura is_a: HP:0001933 ! Subcutaneous hemorrhage [Term] id: HP:0000980 name: Pallor def: "Abnormally pale skin." [https://orcid.org/0000-0002-0736-9199] synonym: "Paleness" RELATED layperson [] synonym: "Skin paleness" RELATED layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D010167 xref: SNOMEDCT_US:398979000 xref: UMLS:C0030232 is_a: HP:0011121 ! Abnormal skin morphology [Term] id: HP:0000989 name: Pruritus def: "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Itching" EXACT layperson [] synonym: "Itchy skin" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Skin itching" EXACT layperson [] xref: MSH:D011537 xref: SNOMEDCT_US:279333002 xref: SNOMEDCT_US:418290006 xref: SNOMEDCT_US:418363000 xref: SNOMEDCT_US:424492005 xref: UMLS:C0033774 is_a: HP:0000951 ! Abnormality of the skin property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0000997 name: Axillary freckling def: "The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin." [PMID:12186179] subset: hposlim_core xref: UMLS:C1860335 is_a: EFO:0003963 ! freckles is_a: HP:0011121 ! Abnormal skin morphology [Term] id: HP:0000999 name: Pyoderma def: "Any manifestation of a skin disease associated with the production of pus." [https://orcid.org/0000-0002-0736-9199] comment: Pyoderma is mainly seen with bacterial skin infections but can also be observed in autoimmune conditions. synonym: "Pus-filled lesion" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: DOID:4223 xref: ICD9:686.0 xref: MSH:D011711 xref: SNOMEDCT:70759006 xref: SNOMEDCT_US:70759006 xref: UMLS:C0034212 is_a: HP:0002719 ! Recurrent infections is_a: HP:0011123 ! Inflammatory abnormality of the skin [Term] id: HP:0001007 name: Hirsutism def: "Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair)." [https://orcid.org/0009-0006-4530-3154] synonym: "Excessive hairiness" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D006628 xref: SNOMEDCT_US:399939002 xref: UMLS:C0019572 is_a: HP:0001574 ! Abnormality of the integument property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0001010 name: Hypopigmentation of the skin alt_id: HP:0005589 alt_id: HP:0007604 alt_id: HP:0007622 def: "A reduction of skin color related to a decrease in melanin production and deposition." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypopigmentation" EXACT [] synonym: "Hypopigmented skin" EXACT [] synonym: "Patchy lightened skin" EXACT layperson [] synonym: "Skin hypopigmentation" RELATED [] xref: MSH:D017496 xref: SNOMEDCT_US:18655006 xref: SNOMEDCT_US:201284005 xref: SNOMEDCT_US:23006000 xref: SNOMEDCT_US:89031001 xref: UMLS:C0162835 is_a: HP:0011121 ! Abnormal skin morphology [Term] id: HP:0001026 name: Penetrating foot ulcers synonym: "Penetrating foot ulcers" EXACT layperson [] xref: UMLS:C4025809 is_a: HP:0200042 ! Skin ulcer [Term] id: HP:0001030 name: Fragile skin def: "Skin that splits easily with minimal injury." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Fragile skin" EXACT layperson [] synonym: "Skin fragility" EXACT layperson [] xref: MEDDRA:10040851 "Skin fragility" xref: SNOMEDCT_US:247427007 xref: UMLS:C0241181 is_a: HP:0011121 ! Abnormal skin morphology [Term] id: HP:0001065 name: Striae distensae alt_id: HP:0001023 alt_id: HP:0001066 alt_id: HP:0100680 def: "Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Purplish striae" EXACT [] synonym: "Stretch marks" EXACT layperson [] synonym: "Striae" EXACT [] synonym: "Striae atrophicae" EXACT [] synonym: "Striae cutis distensae" EXACT [] xref: MEDDRA:10040925 "Skin striae" xref: MSH:D057896 xref: SNOMEDCT_US:201066002 xref: SNOMEDCT_US:201067006 xref: SNOMEDCT_US:47212006 xref: UMLS:C0152459 is_a: HP:0011121 ! Abnormal skin morphology [Term] id: HP:0001071 name: Angiokeratoma corporis diffusum def: "Angiokeratoma corporis diffusum (ACD) is typically characterized by innumerable small red to black papules which occur in clusters and are situated symmetrically in the bathing trunks area. The number of lesions and the extension of the body increase steadily with time so that generalization and mucosal involvement are common. The single lesion begins with a minute reddish papule which enlarges to up to 10 mm in diameter, becomes dark red to black with a discrete keratotic overgrowth. Histologically, the papules are characterized by superficial dilated capillaries in papillary dermis with epidermal proliferation." [] comment: Angiokeratoma corporis diffusum (ACD) commonly occurs in Fabry disease and the term ACD was previously used synonymously with Fabry disease (OMIM:301500). However, ACD can also occur with other diseases related to deficiencies of enzymes that are involved in the metabolism of glycoproteins, including fucosidosis, sialidosis, mannosidosis, GM1 gangliosidosis, and Kanzaki disease. synonym: "Fabry syndrome" EXACT [https://orcid.org/0000-0001-6908-9849] xref: MSH:D000795 xref: SNOMEDCT_US:124464003 xref: SNOMEDCT_US:16652001 xref: UMLS:C0002986 is_a: HP:0011276 ! Vascular skin abnormality [Term] id: HP:0001072 name: Thickened skin alt_id: HP:0007393 def: "Laminar thickening of skin." [https://orcid.org/0009-0006-4530-3154] subset: hposlim_core synonym: "Diffusely thickened skin" RELATED layperson [] synonym: "Pachydermia" EXACT [] synonym: "Thick skin" EXACT layperson [] synonym: "Thickened skin" EXACT layperson [] xref: MEDDRA:10040936 "Skin thickening" xref: SNOMEDCT_US:17417006 xref: SNOMEDCT_US:69943009 xref: UMLS:C0334008 xref: UMLS:C4020878 is_a: HP:0011121 ! Abnormal skin morphology [Term] id: HP:0001075 name: Atrophic scars alt_id: HP:0007567 def: "Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Sunken or indented skin due to damage" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Thin, atrophic scars" EXACT [] xref: SNOMEDCT_US:239172000 xref: SNOMEDCT_US:409766009 xref: UMLS:C0162154 is_a: HP:0011121 ! Abnormal skin morphology is_a: HP:0100699 ! Scarring [Term] id: HP:0001082 name: Cholecystitis def: "The presence of inflammatory changes in the gallbladder." [https://orcid.org/0000-0002-0736-9199] synonym: "Gallbladder inflammation" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: ICD10:K81 xref: MSH:D002764 xref: SNOMEDCT_US:76581006 xref: UMLS:C0008325 is_a: HP:0012438 ! Abnormal gallbladder physiology property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0001094 name: Iridocyclitis def: "A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body." [https://orcid.org/0000-0002-0736-9199] xref: MSH:D015863 xref: SNOMEDCT_US:77971008 xref: UMLS:C0022073 is_a: HP:0000478 ! Abnormality of the eye is_a: HP:0012649 ! Increased inflammatory response property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0001100 name: Heterochromia iridis def: "Heterochromia iridis is a difference in the color of the iris in the two eyes." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Different colored eyes" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Different coloured eyes" EXACT uk_spelling [] synonym: "Heterochromia irides" EXACT [] xref: MSH:C538115 xref: SNOMEDCT_US:247033008 xref: UMLS:C0423318 is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0001103 name: Abnormal macular morphology def: "A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina." [https://orcid.org/0000-0002-0736-9199, PMID:16255686] comment: The term macula derives from the presence of the xanthophyll pigments, lutein and zeaxanthin, in a region five to six millimetres in diameter at the posterior pole of the eye, appearing as a yellow spot (macula lutea), when viewed in red-free light. subset: hposlim_core synonym: "Abnormality of the macula" EXACT [] synonym: "Macula abnormality" EXACT [] synonym: "Macular abnormality" EXACT [] xref: SNOMEDCT_US:312999006 xref: UMLS:C0730362 is_a: HP:0000479 ! Abnormal retinal morphology [Term] id: HP:0001105 name: Retinal atrophy def: "Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss." [https://orcid.org/0000-0003-0986-4123] xref: MSH:D012162 xref: SNOMEDCT_US:405722004 xref: SNOMEDCT_US:95695004 xref: UMLS:C0035304 xref: UMLS:C0521694 is_a: HP:0000479 ! Abnormal retinal morphology [Term] id: HP:0001106 name: Periorbital hyperpigmentation def: "Increased pigmentation of the skin in the region surrounding the orbit of the eye." [https://orcid.org/0000-0002-0736-9199] synonym: "Dark circles around the eyes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Dark circles under the eyes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Darkening around the eyes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Idiopathic cutaneous hyperchromia at the orbital region" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Infraorbital pigmentation" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Periorbital melanosis" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Pigmentation around the eyes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1844606 is_a: HP:0000271 ! Abnormality of the face is_a: HP:0011121 ! Abnormal skin morphology [Term] id: HP:0001123 name: Visual field defect synonym: "Partial loss of field of vision" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Visual field defects" EXACT [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:12184005 xref: UMLS:C3887875 is_a: HP:0000505 ! Visual impairment [Term] id: HP:0001128 name: Trichiasis def: "Inversion and rubbing of the eyelashes against the globe of the eye." [https://orcid.org/0000-0002-0736-9199] comment: Eyelash inversion. synonym: "Ingrown eyelashes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Introversion of eyelashes" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Trichiasis of eyelid eyelashes" EXACT [] xref: MSH:D058457 xref: SNOMEDCT_US:60332004 xref: UMLS:C0221259 is_a: HP:0000271 ! Abnormality of the face is_a: HP:0001574 ! Abnormality of the integument [Term] id: HP:0001132 name: Lens subluxation def: "Partial dislocation of the lens of the eye." [https://orcid.org/0000-0002-0736-9199] comment: Partial dislocation of the lens of the eye can be recognized by trembling of the iris (iridodonesis). synonym: "Partially dislocated lens" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: MSH:D007906 xref: SNOMEDCT_US:65814009 xref: UMLS:C0023316 is_a: HP:0000517 ! Abnormal lens morphology [Term] id: HP:0001162 name: Postaxial hand polydactyly alt_id: HP:0004698 alt_id: HP:0005763 alt_id: HP:0009984 def: "Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger)." [https://orcid.org/0009-0006-4530-3154] subset: hposlim_core synonym: "Extra little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Extra pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Extra pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Polydactyly affecting the 5th finger" EXACT [] synonym: "Postaxial polydactyly of fingers" EXACT [] synonym: "Postaxial polydactyly of hand" EXACT [] synonym: "Postaxial polydactyly of hands" EXACT [] xref: SNOMEDCT_US:205131007 xref: UMLS:C0431904 is_a: HP:0001167 ! Abnormal finger morphology [Term] id: HP:0001167 name: Abnormal finger morphology alt_id: HP:0003035 def: "An anomaly of a finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormalities of the fingers" EXACT layperson [] synonym: "Abnormality of finger" EXACT layperson [] xref: UMLS:C2674737 is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0011297 ! Abnormal digit morphology [Term] id: HP:0001172 name: Abnormal thumb morphology def: "An abnormal structure of the first digit of the hand." [] synonym: "Abnormality of the thumb" EXACT layperson [] synonym: "Abnormality of the thumbs" EXACT layperson [] synonym: "Thumb deformity" EXACT layperson [] xref: MSH:C536903 xref: SNOMEDCT_US:299130003 xref: UMLS:C0575897 is_a: HP:0001167 ! Abnormal finger morphology [Term] id: HP:0001176 name: Large hands alt_id: HP:0002820 alt_id: HP:0006044 alt_id: HP:0006219 synonym: "Disproportionately large hands" EXACT [] synonym: "large hand" EXACT layperson [] synonym: "Large hands" EXACT layperson [] xref: SNOMEDCT_US:249752003 xref: UMLS:C0426870 is_a: HP:0002817 ! Abnormality of the upper limb [Term] id: HP:0001182 name: Tapered finger alt_id: HP:0005795 alt_id: HP:0005800 alt_id: HP:0006032 alt_id: HP:0006080 alt_id: HP:0006098 alt_id: HP:0006111 alt_id: HP:0006125 alt_id: HP:0006244 alt_id: HP:0007532 def: "The gradual reduction in girth of the finger from proximal to distal." [PMID:19125433] subset: hposlim_core synonym: "Distally tapering fingers" EXACT [] synonym: "Tapered finger" EXACT layperson [] synonym: "Tapered fingers" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Tapered fingertips" EXACT layperson [] synonym: "Tapering fingers" EXACT layperson [] xref: SNOMEDCT_US:249768009 xref: UMLS:C0426886 is_a: HP:0100807 ! Long fingers [Term] id: HP:0001195 name: Single umbilical artery def: "Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord." [https://orcid.org/0000-0002-0736-9199] comment: The umbilical cord normally has two arteries and one vein. synonym: "2 vessel cord" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "2 vessel umbilical cord" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Only one artery in umbilical cord instead of two" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Two vessel cord" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Two vessel umbilical cord" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Two-vessel cord" EXACT [] xref: MSH:D058529 xref: SNOMEDCT_US:204470001 xref: UMLS:C1384670 is_a: HP:0010881 ! Abnormality of the umbilical cord is_a: HP:0030680 ! Abnormal cardiovascular system morphology [Term] id: HP:0001197 name: Abnormality of prenatal development or birth def: "An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities." [https://orcid.org/0000-0002-0736-9199] comment: Because of the close link between prenatal developmental abnormalities and abnormalities of the birth process, a single term is chosen to subsume both classes of abnormality. synonym: "Abnormality of prenatal development or birth" EXACT layperson [] xref: UMLS:C4025797 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001233 name: 2-3 finger syndactyly alt_id: HP:0006039 alt_id: HP:0006122 def: "Syndactyly with fusion of fingers two and three." [https://orcid.org/0009-0006-4530-3154] synonym: "Syndactyly 2nd-3rd fingers" EXACT [] synonym: "Syndactyly, 2-3 finger" EXACT [] synonym: "Webbed 2nd-3rd fingers" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:205139009 xref: UMLS:C0432055 is_a: HP:0006101 ! Finger syndactyly [Term] id: HP:0001249 name: Intellectual disability alt_id: HP:0000730 alt_id: HP:0001267 alt_id: HP:0001286 alt_id: HP:0002122 alt_id: HP:0002192 alt_id: HP:0002316 alt_id: HP:0002382 alt_id: HP:0002386 alt_id: HP:0002402 alt_id: HP:0002458 alt_id: HP:0002482 alt_id: HP:0002499 alt_id: HP:0002543 alt_id: HP:0003767 alt_id: HP:0006833 alt_id: HP:0006877 alt_id: HP:0007154 alt_id: HP:0007176 alt_id: HP:0007180 def: "Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70." [] comment: This term should be used for children who are at least five years old. For younger children, consider using the term Global developmental delay (HP:0001263). synonym: "Dull intelligence" RELATED [] synonym: "Intellectual disability" EXACT layperson [] synonym: "Low intelligence" RELATED layperson [] synonym: "Mental deficiency" EXACT layperson [] synonym: "Mental retardation" EXACT layperson [] synonym: "Mental retardation, nonspecific" EXACT layperson [] synonym: "Mental-retardation" EXACT layperson [] synonym: "Nonprogressive intellectual disability" EXACT [] synonym: "Nonprogressive mental retardation" EXACT [] synonym: "Poor school performance" RELATED layperson [] xref: MSH:D008607 xref: SNOMEDCT_US:228156007 xref: SNOMEDCT_US:247578003 xref: SNOMEDCT_US:91138005 xref: UMLS:C0025362 xref: UMLS:C0423903 xref: UMLS:C0917816 xref: UMLS:C1843367 xref: UMLS:C3714756 xref: UMLS:C4020876 is_a: HP:0012759 ! Neurodevelopmental abnormality is_a: HP:0100543 ! Cognitive impairment [Term] id: HP:0001250 name: Seizure alt_id: HP:0001275 alt_id: HP:0001303 alt_id: HP:0002125 alt_id: HP:0002182 alt_id: HP:0002279 alt_id: HP:0002306 alt_id: HP:0002348 alt_id: HP:0002391 alt_id: HP:0002417 alt_id: HP:0002430 alt_id: HP:0002431 alt_id: HP:0002432 alt_id: HP:0002434 alt_id: HP:0002437 alt_id: HP:0002466 alt_id: HP:0002479 alt_id: HP:0002794 alt_id: HP:0006997 alt_id: HP:0010520 def: "A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain." [https://orcid.org/0000-0002-0736-9199, PMID:15816939] comment: A type of electrographic seizure has been proposed in neonates which does not have a clinical correlate, it is electrographic only. The term epilepsy is not used to describe recurrent febrile seizures. Epilepsy presumably reflects an abnormally reduced seizure threshold. synonym: "Epilepsy" RELATED layperson [] synonym: "Epileptic seizure" EXACT [] synonym: "Seizures" EXACT plural_form [] xref: ICD10:R56 xref: MSH:D004827 xref: MSH:D012640 xref: SNOMEDCT_US:128613002 xref: SNOMEDCT_US:246545002 xref: SNOMEDCT_US:313307000 xref: SNOMEDCT_US:84757009 xref: SNOMEDCT_US:91175000 xref: UMLS:C0014544 xref: UMLS:C0036572 is_a: HP:0012638 ! Abnormal nervous system physiology property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0001251 name: Ataxia alt_id: HP:0001253 alt_id: HP:0002513 alt_id: HP:0007050 alt_id: HP:0007157 def: "Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly)." [https://orcid.org/0000-0002-0736-9199] comment: Ataxia can be differentiated into dyssynergy, asynergy, dysmetria (hypometria, hypermetria), dysdiadochokinesis, gait ataxia, truncal ataxia, limb ataxia, and dysarthria). Note: This term does not include sensory ataxia. synonym: "Cerebellar ataxia" EXACT [] xref: MSH:D002524 xref: SNOMEDCT_US:85102008 xref: UMLS:C0007758 is_a: HP:0011442 ! Abnormal central motor function [Term] id: HP:0001252 name: Hypotonia alt_id: HP:0011398 def: "Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist." [https://orcid.org/0000-0002-0736-9199, PMID:21418198] comment: Hypotonia can be caused by abnormalities of the central nervous system, any element of the motor unit (including the lower motoneuron), or both. Hypotonia is not a specific diagnosis, but can be observed in hundreds of genetic and other diseases. The first distinction to make when assessing a child with hypotonia is whether decreased muscle tone is a result of an abnormality of the central nervous system (CNS), peripheral neuromuscular system, or a combined abnormality involving both. Clinical findings suggestive of an abnormality of the CNS may include hyperreflexia, cognitive developmental delay, and seizures. In contrast, physical findings pointing towards a neuromuscular origin may include weakness, lack of antigravity movements, muscle atrophy, fasciculations, and/or diminished reflexes, most often in the context of normal cognitive function. The HPO term does not distinguish between these etiologies. Additional HPO terms should be used as required to describe associated features. synonym: "Central hypotonia" NARROW [] synonym: "Low muscle tone" EXACT layperson [] synonym: "Low or weak muscle tone" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Muscle hypotonia" EXACT [] synonym: "Muscular hypotonia" EXACT [] synonym: "Peripheral hypotonia" NARROW [] xref: MSH:D009123 xref: SNOMEDCT_US:398151007 xref: SNOMEDCT_US:398152000 xref: UMLS:C0026827 is_a: HP:0003808 ! Abnormal muscle tone [Term] id: HP:0001256 name: Intellectual disability, mild alt_id: HP:0006908 alt_id: HP:0007119 def: "Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69." [https://orcid.org/0000-0002-0736-9199] synonym: "Intellectual disability, mild" EXACT layperson [] synonym: "Mental retardation, borderline-mild" EXACT layperson [] synonym: "Mental retardation, mild" RELATED layperson [] synonym: "Mild and nonprogressive mental retardation" EXACT layperson [] synonym: "Mild mental retardation" EXACT layperson [] xref: SNOMEDCT_US:86765009 xref: UMLS:C0026106 is_a: HP:0001249 ! Intellectual disability [Term] id: HP:0001257 name: Spasticity def: "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [https://orcid.org/0000-0002-0736-9199] synonym: "Involuntary muscle stiffness, contraction, or spasm" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Muscle spasticity" EXACT [] synonym: "Muscular spasticity" EXACT [] xref: MSH:D009128 xref: SNOMEDCT_US:221360009 xref: SNOMEDCT_US:397790002 xref: UMLS:C0026838 is_a: HP:0001276 ! Hypertonia is_a: HP:0011442 ! Abnormal central motor function [Term] id: HP:0001258 name: Spastic paraplegia alt_id: HP:0007062 alt_id: HP:0007124 alt_id: HP:0007216 def: "Spasticity and weakness of the leg and hip muscles." [https://orcid.org/0000-0002-0736-9199] comment: This phenotypic feature is a major component of the disease hereditary spastic paraplegia, which has multiple distinct genetic etiologies. synonym: "Spastic paraplegia, lower limb" EXACT [] xref: MSH:D010264 xref: SNOMEDCT_US:192967009 xref: UMLS:C0037772 xref: Wikipedia:Hereditary_spastic_paraplegia is_a: HP:0002061 ! Lower limb spasticity [Term] id: HP:0001259 name: Coma def: "The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli." [PMID:33218655] comment: Coma is generally a result of diffuse or extensive involvement of both hemispheres of the brain or lesions in the brainstem. synonym: "Coma" EXACT layperson [] synonym: "Persistent vegetative state" EXACT [] synonym: "Stupor" EXACT [] synonym: "Trance" RELATED [] synonym: "Unconsciousness" EXACT [] xref: ICD-10:R40.2 "Coma, unspecified" xref: MSH:D003128 xref: SNOMEDCT_US:371632003 xref: UMLS:C0009421 is_a: HP:0004372 ! Reduced consciousness property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-6262-8264 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9446-5121 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-1592-0825 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4672-4923 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-5554-6946 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7367-663X [Term] id: HP:0001260 name: Dysarthria alt_id: HP:0002327 def: "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [https://orcid.org/0000-0002-0736-9199] synonym: "Difficulty articulating speech" EXACT layperson [] synonym: "Dysarthric speech" EXACT [] xref: MSH:D004401 xref: SNOMEDCT_US:8011004 xref: UMLS:C0013362 is_a: HP:0002167 ! Abnormality of speech or vocalization [Term] id: HP:0001263 name: Global developmental delay alt_id: HP:0000754 alt_id: HP:0001255 alt_id: HP:0001277 alt_id: HP:0001292 alt_id: HP:0002433 alt_id: HP:0002473 alt_id: HP:0002532 alt_id: HP:0006793 alt_id: HP:0006867 alt_id: HP:0006885 alt_id: HP:0006935 alt_id: HP:0007005 alt_id: HP:0007094 alt_id: HP:0007106 alt_id: HP:0007174 alt_id: HP:0007224 alt_id: HP:0007228 alt_id: HP:0007342 alt_id: HP:0025356 def: "A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age." [https://orcid.org/0000-0002-6410-0882, https://orcid.org/0009-0006-4530-3154] comment: Developmental retardation is any significant lag in development in the any or all of the physical, cognitive, behavioral, emotional, or social spheres. Note that the term intellectual disability (mental retardation) refers to not merely a delay in development but rather a permanent limitation. Note that the term 'psychomotor retardation' is also used in some contexts to refer to a slowing of thought and physical movements as a result of major depression or intoxication. synonym: "Cognitive delay" RELATED [] synonym: "Delayed cognitive development" EXACT [] synonym: "Delayed development" EXACT [] synonym: "Delayed developmental milestones" EXACT [] synonym: "Delayed intellectual development" EXACT [] synonym: "Delayed milestones" EXACT [] synonym: "Delayed psychomotor development" EXACT [] synonym: "Developmental delay" EXACT [] synonym: "Developmental delay in early childhood" EXACT [] synonym: "Developmental delay, global" EXACT [] synonym: "Developmental retardation" EXACT [] synonym: "Lack of psychomotor development" EXACT [] synonym: "Mental and motor retardation" RELATED [] synonym: "Motor and developmental delay" EXACT [] synonym: "Motormental retardation" EXACT [] synonym: "Psychomotor delay" EXACT [] synonym: "Psychomotor development deficiency" EXACT [] synonym: "Psychomotor development failure" EXACT [] synonym: "Psychomotor developmental delay" EXACT [] synonym: "Retarded development" EXACT [] synonym: "Retarded mental development" EXACT [] synonym: "Retarded psychomotor development" EXACT [] xref: SNOMEDCT_US:224958001 xref: UMLS:C0557874 xref: UMLS:C1864897 xref: UMLS:C4020875 is_a: HP:0012758 ! Neurodevelopmental delay [Term] id: HP:0001265 name: Hyporeflexia alt_id: HP:0002467 def: "Reduction of neurologic reflexes such as the knee-jerk reaction." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased reflex response" EXACT layperson [] synonym: "Decreased reflexes" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:405946002 xref: UMLS:C0700078 is_a: HP:0001315 ! Reduced tendon reflexes [Term] id: HP:0001266 name: Choreoathetosis alt_id: HP:0002469 alt_id: HP:0006811 alt_id: HP:0007028 alt_id: HP:0007337 def: "Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements)." [https://orcid.org/0000-0002-0736-9199] synonym: "Choreoathetoid movements" EXACT [] xref: SNOMEDCT_US:43105007 xref: UMLS:C0085583 xref: UMLS:C0234967 is_a: HP:0011442 ! Abnormal central motor function is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0001268 name: Mental deterioration alt_id: HP:0002303 alt_id: HP:0006822 alt_id: HP:0007155 alt_id: HP:0007253 alt_id: HP:0007264 alt_id: HP:0007298 def: "Loss of previously present mental abilities, generally in adults." [https://orcid.org/0000-0002-0736-9199] synonym: "Cognitive decline" EXACT layperson [] synonym: "Cognitive decline, progressive" EXACT layperson [] synonym: "Intellectual deterioration" EXACT layperson [] synonym: "Mental deterioration" EXACT layperson [] synonym: "Progressive cognitive decline" EXACT layperson [] xref: MSH:D060825 xref: UMLS:C0234985 is_a: HP:0100543 ! Cognitive impairment property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0001269 name: Hemiparesis def: "Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength." [HPO_CONTRIBUTOR:UKB_tklockgether, https://orcid.org/0000-0002-0736-9199] synonym: "Weakness of one side of body" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D010291 xref: SNOMEDCT_US:127377003 xref: SNOMEDCT_US:20022000 xref: UMLS:C0018989 is_a: HP:0011442 ! Abnormal central motor function is_a: HP:0012443 ! Abnormal brain morphology property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0001270 name: Motor delay alt_id: HP:0001307 alt_id: HP:0002130 alt_id: HP:0006788 alt_id: HP:0006826 alt_id: HP:0006909 alt_id: HP:0006950 alt_id: HP:0006968 alt_id: HP:0007219 alt_id: HP:0007251 def: "A type of Developmental delay characterized by a delay in acquiring motor skills." [https://orcid.org/0000-0002-0736-9199] synonym: "Delay in motor development" EXACT [] synonym: "Delayed early motor milestones" EXACT [] synonym: "Delayed motor development" EXACT [] synonym: "Delayed motor milestones" EXACT [] synonym: "Locomotor delay" EXACT [] synonym: "Motor developmental delay" EXACT [] synonym: "Motor developmental milestones not achieved" EXACT [] synonym: "Motor retardation" EXACT [] synonym: "No development of motor milestones" RELATED [] synonym: "Retarded motor development" EXACT [] xref: UMLS:C1854301 xref: UMLS:C4020874 is_a: HP:0012758 ! Neurodevelopmental delay [Term] id: HP:0001272 name: Cerebellar atrophy alt_id: HP:0002364 alt_id: HP:0006839 alt_id: HP:0007072 alt_id: HP:0007203 def: "Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event." [https://orcid.org/0000-0002-0736-9199, PMID:12169461, PMID:26331051] comment: Cerebellar atrophy can be diagnosed if the cerebellum is small with shrunken folia and large cerebellar fissures or if it has been shown to undergo progressive volume loss. synonym: "Atrophic cerebellum" EXACT [] synonym: "Degeneration of cerebellum" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Infratentorial atrophy" RELATED [] xref: SNOMEDCT_US:95646004 xref: UMLS:C0262404 xref: UMLS:C0740279 xref: UMLS:C4020873 is_a: HP:0012443 ! Abnormal brain morphology [Term] id: HP:0001273 name: Abnormal corpus callosum morphology alt_id: HP:0007323 def: "Abnormality of the corpus callosum." [https://orcid.org/0000-0002-0736-9199, PMID:21263138] comment: The corpus callosum, a broad thick band of nerve fibers that connects the right and left cerebral hemispheres, is the largest white matter structure in the brain. This finding can be demonstrated by cerebral magenetic resonance tomography. The corpus callosum structurally consists of 4 major anatomic features including the rostrum, genu, corpus, and splenium. synonym: "Abnormal corpus callosum" EXACT [] synonym: "Abnormality of the corpus callosum" EXACT [] synonym: "Corpus callosum abnormality" EXACT [] xref: UMLS:C1842581 is_a: HP:0002500 ! Abnormal cerebral white matter morphology [Term] id: HP:0001274 name: Agenesis of corpus callosum alt_id: HP:0006800 def: "Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [https://orcid.org/0000-0002-0736-9199] synonym: "Absence of corpus callosum" EXACT [] synonym: "Absent corpus callosum" EXACT [] synonym: "Agenesis of the corpus callosum" EXACT [] synonym: "Callosal agenesis" EXACT [] synonym: "Corpus callosum agenesis" EXACT [] synonym: "Dysplastic or absent corpus callosum" EXACT [] xref: Fyler:4321 xref: MSH:D061085 xref: SNOMEDCT_US:5102002 xref: UMLS:C0175754 is_a: HP:0007370 ! Aplasia/Hypoplasia of the corpus callosum [Term] id: HP:0001276 name: Hypertonia alt_id: HP:0002388 def: "A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move." [https://orcid.org/0000-0002-0736-9199] comment: Spasticity is a term that is often used interchangeably with hypertonia. Spasticity, however, is a particular type of hypertonia in which the muscles' spasms are increased by movement. In this type, patients usually have exaggerated reflex responses. synonym: "Hypertonicity" EXACT [] synonym: "Increased muscle tone" EXACT [] synonym: "Muscle hypertonia" RELATED [] synonym: "Spasticity and rigidity of muscles" NARROW layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D009122 xref: SNOMEDCT_US:41581000 xref: SNOMEDCT_US:56731001 xref: UMLS:C0026826 is_a: HP:0003808 ! Abnormal muscle tone [Term] id: HP:0001279 name: Syncope def: "Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow." [https://orcid.org/0000-0002-0736-9199] synonym: "Fainting spell" EXACT layperson [] xref: MSH:D013575 xref: SNOMEDCT_US:271594007 xref: SNOMEDCT_US:272030005 xref: SNOMEDCT_US:309585006 xref: UMLS:C0039070 is_a: HP:0011025 ! Abnormal cardiovascular system physiology property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-25T10:37:00Z [Term] id: HP:0001281 name: Tetany def: "A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency." [] synonym: "Intermittent involuntary muscle spasm" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D013746 xref: SNOMEDCT_US:10629009 xref: UMLS:C0039621 is_a: HP:0011804 ! Abnormal muscle physiology [Term] id: HP:0001288 name: Gait disturbance alt_id: HP:0006953 def: "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [https://orcid.org/0000-0002-0736-9199, PMID:27770207] comment: If possible, this term should not be used for new annotations. Rather, a more specific term should be sought. synonym: "Abnormal gait" EXACT layperson [] synonym: "Abnormal walk" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Gait abnormalities" EXACT [] synonym: "Gait difficulties" EXACT [] synonym: "Gait disturbances" EXACT [] synonym: "Impaired gait" EXACT layperson [] xref: SNOMEDCT_US:22325002 xref: UMLS:C0575081 is_a: HP:0100022 ! Abnormality of movement property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0001290 name: Generalized hypotonia def: "Generalized muscular hypotonia (abnormally low muscle tone)." [https://orcid.org/0000-0002-0736-9199] synonym: "Generalised decreased muscle tone" EXACT uk_spelling [] synonym: "Generalised hypotonia" EXACT uk_spelling [] synonym: "Generalised muscular hypotonia" EXACT uk_spelling [] synonym: "Generalized decreased muscle tone" EXACT layperson [] synonym: "Generalized muscular hypotonia" EXACT [] synonym: "Hypotonia, generalised" EXACT uk_spelling [] synonym: "Hypotonia, generalized" EXACT [] xref: UMLS:C1858120 is_a: HP:0001252 ! Hypotonia [Term] id: HP:0001298 name: Encephalopathy def: "Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state." [HPO_CONTRIBUTOR:KI_phemming, https://orcid.org/0000-0002-0736-9199] comment: This term and its children are general and bundled terms that are kept for convenience. For new annotations, it is recommended that the specific phenotypic abnormalities be noted. xref: MSH:D001927 xref: SNOMEDCT_US:81308009 xref: UMLS:C0085584 is_a: HP:0012638 ! Abnormal nervous system physiology [Term] id: HP:0001300 name: Parkinsonism def: "Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait." [https://orcid.org/0000-0002-0736-9199] synonym: "Parkinsonian disease" RELATED [] xref: MSH:D020734 xref: SNOMEDCT_US:32798002 xref: UMLS:C0242422 is_a: HP:0011442 ! Abnormal central motor function [Term] id: HP:0001302 name: Pachygyria def: "Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly." [http://www.wikidata.org/entity/Q90573458, https://orcid.org/0000-0002-0736-9199, PMID:22427329] synonym: "Cerebral pachygyria" EXACT [] synonym: "Fewer and broader ridges in brain" EXACT layperson [] xref: MSH:D054082 xref: SNOMEDCT_US:23024003 xref: UMLS:C0266483 is_a: HP:0002536 ! Abnormal cortical gyration [Term] id: HP:0001304 name: Torsion dystonia def: "Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body." [https://orcid.org/0000-0002-0736-9199] synonym: "Dystonia musculorum deformans" EXACT [] xref: MSH:D004422 xref: SNOMEDCT_US:22451001 xref: SNOMEDCT_US:431034009 xref: UMLS:C0013423 is_a: HP:0001332 ! Dystonia property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0001310 name: Dysmetria def: "A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements." [https://orcid.org/0000-0002-0736-9199] comment: Dysmetria can result in moving beyond the target (hypermetria) or failing to reach the target (hypometria) during a voluntary movement. Dysmetria can be assessed clinically by the finger chase test, whereby the examiner and the proband are sitting, and the examiner suddenly moves his or her finger five times in an unpredictable direction in a frontal plane, with movements having an amplitude of about 30 cm and a frequency of once every two seconds. The proband is asked to follow the movements with his or her index finger. The test is abnormal if the proband substantially under- or overshoots or cannot perform pointing movements at all. The finger-nose-finger test is similar, and the proband is asked to alternately touch his or her own nose and then to point to the finger of the examiner. synonym: "Abnormal finger chase test" RELATED [] synonym: "Abnormal finger-nose-finger test" RELATED [] synonym: "Lack of coordination of movement" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D002524 xref: SNOMEDCT_US:32566006 xref: UMLS:C0234162 is_a: HP:0001251 ! Ataxia is_a: HP:0012443 ! Abnormal brain morphology [Term] id: HP:0001315 name: Reduced tendon reflexes alt_id: HP:0001316 def: "Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease." [https://orcid.org/0000-0002-0736-9199, PMID:20941667] comment: The deep tendon reflex is a monosynaptic reflex arc with sensory and motor nerve components, but the arc is much more vulnerable to sensory nerve damage. Ankle plantar flexion is retained in all but the most severe peripheral neuropathies, and thus loss of the Achilles tendon reflex in an objective indication of a substantial sensory nerve defect. synonym: "Absent or decreased deep tendon reflexes" EXACT [] synonym: "Decreased deep tendon reflexes" EXACT [] synonym: "Decreased tendon reflexes" EXACT [] synonym: "Decreased to absent deep tendon reflexes" EXACT [] synonym: "Decreased/absent deep tendon reflexes" EXACT [] synonym: "Depressed tendon reflexes" EXACT [] synonym: "Diminished deep tendon reflexes" EXACT [] synonym: "Diminished or absent deep tendon reflexes" EXACT [] synonym: "Diminished or absent tendon reflexes" EXACT [] synonym: "Hypoactive to absent deep tendon reflexes" EXACT [] synonym: "Impaired tendon reflexes" EXACT [] synonym: "Reduced/absent deep tendon reflexes" EXACT [] synonym: "Weak or absent deep tendon reflexes" EXACT [] xref: UMLS:C1866934 is_a: HP:0031826 ! Abnormal reflex [Term] id: HP:0001319 name: Neonatal hypotonia alt_id: HP:0006830 alt_id: HP:0008976 def: "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [https://orcid.org/0000-0002-0736-9199] synonym: "Congenital hypotonia" RELATED [] synonym: "Hypotonia, in neonatal onset" EXACT [] synonym: "Hypotonia, neonatal" EXACT [] synonym: "Low muscle tone, in neonatal onset" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D009123 xref: SNOMEDCT_US:205294008 xref: UMLS:C2267233 is_a: HP:0001252 ! Hypotonia [Term] id: HP:0001320 name: Cerebellar vermis hypoplasia def: "Underdevelopment of the vermis of cerebellum." [https://orcid.org/0000-0002-0736-9199] synonym: "Cerebellar vermal hypoplasia" EXACT [] synonym: "Hypoplasia of the cerebellar vermis" EXACT [] synonym: "Hypoplastic cerebellar vermis" EXACT [] xref: UMLS:C1840379 is_a: HP:0001321 ! Cerebellar hypoplasia [Term] id: HP:0001321 name: Cerebellar hypoplasia alt_id: HP:0006806 alt_id: HP:0006910 alt_id: HP:0007038 alt_id: HP:0007053 def: "Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time." [https://orcid.org/0000-0002-0736-9199, PMID:26331051, PMID:27160001] comment: By prenatal ultrasound, cerebellar hypoplasia is diagnosed if the cerebellum measures more than two standard deviations below the mean. In adults, cerebellar hypoplasia is typically diagnosed by computer tomography or magnetic resonance imaging. Cerebellar hypoplasia can be diagnosed if there is a small cerebellum with fissures of normal size compared with the folia (this is a distinguishing characteristic compared with cerebellar atrophy). Cerebellar hypoplasia (CH) refers to an underdevelopment of the cerebellum. This category of cerebellar malformation is distinct from Dandy Walker malformation in that it does not involve a concurrent enlargement of the posterior fossa, and almost all individuals exhibit cognitive and motor impairments. synonym: "Congenital cerebellar hypoplasia" EXACT [] synonym: "Hypoplasia of cerebellum" EXACT [] synonym: "Hypoplastic cerebellum" EXACT [] synonym: "Small cerebellum" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Underdeveloped cerebellum" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:C562568 xref: SNOMEDCT_US:16026008 xref: UMLS:C0266470 is_a: HP:0007360 ! Aplasia/Hypoplasia of the cerebellum [Term] id: HP:0001324 name: Muscle weakness alt_id: HP:0002309 alt_id: HP:0008979 alt_id: HP:0009012 alt_id: HP:0009061 def: "Reduced strength of muscles." [https://orcid.org/0000-0002-0736-9199, PMID:15832536] comment: It is important clinical to distinguish between muscle weakness, fatigue, and asthenia. Fatigue describes the inability to continue performing a task after multiple repetitions; in contrast, a patient with primary weakness is unable to perform the first repetition of the task. Asthenia is a sense of weariness or exhaustion in the absence of muscle weakness. Conditions that result in intrinsic muscle weakness can be divided into several main categories: infectious, neurologic, endocrine, inflammatory, rheumatologic, genetic, metabolic, electrolyte-induced, or drug-induced. synonym: "Muscle weakness" EXACT layperson [] synonym: "Muscular weakness" EXACT layperson [] xref: MSH:D018908 xref: SNOMEDCT_US:26544005 xref: UMLS:C0151786 is_a: HP:0011804 ! Abnormal muscle physiology [Term] id: HP:0001325 name: Hypoglycemic coma def: "Coma induced by low blood sugar." [] synonym: "Coma caused by low blood sugar" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Coma, hypoglycemic" EXACT [] synonym: "Hypoglycaemic coma" EXACT [] synonym: "Hypoglycemic coma" EXACT [] synonym: "Loss of consciousness due to hypoglycemia" EXACT [] xref: SNOMEDCT_US:267384006 xref: UMLS:C0020617 is_a: HP:0001259 ! Coma property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-6262-8264 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9446-5121 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-1592-0825 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4672-4923 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-5554-6946 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7367-663X [Term] id: HP:0001328 name: Specific learning disability alt_id: HP:0007234 def: "Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence." [https://orcid.org/0000-0002-0736-9199] comment: The term learning disability is used with different meanings in different contexts. Significant impairments of mental functioning with a reduction in IQ below 70 should be coded as mental retardation. xref: UMLS:C4025790 is_a: HP:0012759 ! Neurodevelopmental abnormality [Term] id: HP:0001332 name: Dystonia alt_id: HP:0002328 def: "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [https://orcid.org/0000-0002-0736-9199] synonym: "Dystonic disease" RELATED [] synonym: "Dystonic movements" EXACT [] xref: ICD10:G24 xref: MSH:D004421 xref: UMLS:C0013421 xref: UMLS:C4020871 is_a: HP:0000708 ! Atypical behavior is_a: HP:0100022 ! Abnormality of movement property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0001336 name: Myoclonus alt_id: HP:0002535 alt_id: HP:0007087 def: "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [https://orcid.org/0000-0002-0736-9199, PMID:20589866] comment: Myoclonus may be synchronous (several muscle contracting simultaneously), spreading (several muscles contracting in sequence), or asynchronous (several muscles contracting with varying and unpredictable relative timing). Myoclonus is characterized by sudden unidirectional movement due to muscle contraction (positive myoclonus) or due to sudden brief muscle relaxation (negative myoclonus). Electrophysiological tests are very helpful in determining whether myoclonus is cortical, subcortical or spinal. synonym: "Involuntary jerking movements" RELATED [] synonym: "Jerking" BROAD layperson [] synonym: "Myoclonic jerks" EXACT [] xref: MSH:D009207 xref: SNOMEDCT_US:127324008 xref: SNOMEDCT_US:17450006 xref: UMLS:C0027066 xref: UMLS:C1854302 is_a: HP:0011442 ! Abnormal central motor function is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0001337 name: Tremor alt_id: HP:0001295 alt_id: HP:0001309 def: "An unintentional, oscillating to-and-fro muscle movement about a joint axis." [https://orcid.org/0000-0002-0736-9199, PMID:16344298, PMID:20589866] comment: Tremor is differentiated from other involuntary movement disorders, such as chorea, athetosis, ballism, tics, and myoclonus, by its repetitive, stereotyped movements of a regular amplitude and frequency. Clonus, unlike tremor, represents a rhythmic movement, which is increased by muscle stretching. synonym: "Tremor" EXACT layperson [] synonym: "Tremors" EXACT plural_form [] xref: MSH:D014202 xref: SNOMEDCT_US:26079004 xref: UMLS:C0040822 is_a: HP:0011442 ! Abnormal central motor function is_a: HP:0100022 ! Abnormality of movement property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0001338 name: Partial agenesis of the corpus callosum alt_id: HP:0006982 alt_id: HP:0007090 alt_id: HP:0007128 def: "A partial failure of the development of the corpus callosum." [https://orcid.org/0000-0002-0736-9199] synonym: "Corpus callosum agenesis, partial" EXACT [] synonym: "Partial agenesis of corpus callosum" EXACT [] synonym: "Partial corpus callosum agenesis" EXACT [] synonym: "Partial or complete agenesis of corpus callosum" EXACT [] synonym: "Partial or complete agenesis of the corpus callosum" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Partial to complete agenesis of corpus callosum" EXACT [] synonym: "Partial-total agenesis of corpus callosum" EXACT [] xref: MSH:C536111 xref: SNOMEDCT_US:253140003 xref: UMLS:C0431368 xref: UMLS:C1857278 is_a: HP:0001274 ! Agenesis of corpus callosum [Term] id: HP:0001344 name: Absent speech alt_id: HP:0001617 alt_id: HP:0006798 def: "Complete lack of development of speech and language abilities." [https://orcid.org/0000-0002-0736-9199] comment: This term should not be used in very young children. synonym: "Absent speech development" EXACT layperson [] synonym: "Lack of language development" EXACT layperson [] synonym: "Lack of speech" EXACT layperson [] synonym: "No speech development" EXACT layperson [] synonym: "No speech or language development" EXACT layperson [] synonym: "Nonverbal" EXACT layperson [https://orcid.org/0000-0001-9114-8737] xref: UMLS:C0746940 xref: UMLS:C1854882 is_a: HP:0000750 ! Delayed speech and language development [Term] id: HP:0001347 name: Hyperreflexia alt_id: HP:0001282 alt_id: HP:0006820 alt_id: HP:0007184 alt_id: HP:0007318 def: "Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles." [https://orcid.org/0000-0002-0736-9199] comment: Reflexes are graded according to the following scale: 0=absent; 1=present but diminished; 2=normoactive; 3=exaggerated; and 4=clonus. Clonus is always abnormal, and a grade 3 reflex may be abnormal if it is asymmetric or if it was previously grade 2 or less. synonym: "Increased deep tendon reflexes" EXACT [] synonym: "Increased reflexes" EXACT layperson [] xref: MSH:D012021 xref: SNOMEDCT_US:86854008 xref: UMLS:C0151889 is_a: HP:0031826 ! Abnormal reflex [Term] id: HP:0001348 name: Brisk reflexes def: "Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal." [] synonym: "Brisk deep tendon reflexes" EXACT [] xref: UMLS:C2673700 is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0001350 name: Slurred speech def: "Abnormal coordination of muscles involved in speech." [https://orcid.org/0000-0002-9102-5232] synonym: "Slurred speech" EXACT layperson [] xref: SNOMEDCT_US:289195008 xref: UMLS:C0234518 is_a: HP:0011442 ! Abnormal central motor function [Term] id: HP:0001357 name: Plagiocephaly alt_id: HP:0001121 def: "Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape." [PMID:19125436] comment: Plagiocephaly may affect the posterior skull alone. With plagiocephaly, one can see a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape or asymmetry of the posterior skull alone. subset: hposlim_core synonym: "Asymmetry of the posterior cranium" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Asymmetry of the posterior head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Asymmetry of the posterior skull" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deformational plagiocephaly" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Flat head" BROAD [https://orcid.org/0000-0002-5316-1399] synonym: "Flat head syndrome" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Flattening of cranial vault" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Flattening of cranium" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Flattening of head" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Flattening of skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Positional plagiocephaly" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Rhomboid shaped cranium" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Rhomboid shaped head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Rhomboid shaped skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: MSH:D049068 xref: MSH:D059041 xref: SNOMEDCT_US:21850008 xref: SNOMEDCT_US:254024005 xref: UMLS:C0265529 xref: UMLS:C1450010 xref: UMLS:C4072830 xref: UMLS:C4280597 xref: UMLS:C4280598 xref: UMLS:C4280807 is_a: HP:0000929 ! Abnormal skull morphology [Term] id: HP:0001371 name: Flexion contracture alt_id: HP:0001372 alt_id: HP:0001381 alt_id: HP:0005053 alt_id: HP:0005189 alt_id: HP:0005660 def: "A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints." [https://orcid.org/0000-0002-0736-9199] synonym: "Flexed joint that cannot be straightened" EXACT layperson [] synonym: "Flexion contractures" EXACT [] synonym: "Flexion contractures of joints" EXACT [] xref: MSH:D003286 xref: SNOMEDCT_US:203598005 xref: SNOMEDCT_US:385522000 xref: SNOMEDCT_US:55033002 xref: SNOMEDCT_US:57048009 xref: SNOMEDCT_US:7890003 xref: SNOMEDCT_US:88565003 xref: UMLS:C0009917 xref: UMLS:C0009918 xref: UMLS:C0333068 xref: UMLS:C1850530 is_a: HP:0003549 ! Abnormality of connective tissue is_a: HP:0011805 ! Abnormal skeletal muscle morphology is_a: HP:0011842 ! Abnormal skeletal morphology [Term] id: HP:0001373 name: Joint dislocation alt_id: HP:0002772 alt_id: HP:0005837 def: "Displacement or malalignment of joints." [https://orcid.org/0000-0002-0736-9199] comment: Dislocation is defined as a complete disruption of the joint and subluxation is defined as a partial dislocation followed by relocation. synonym: "Joint dislocation" EXACT layperson [] synonym: "Joint dislocations" EXACT layperson [https://orcid.org/0000-0002-5316-1399] xref: MSH:D004204 xref: SNOMEDCT_US:108367008 xref: SNOMEDCT_US:87642003 xref: UMLS:C0012691 is_a: HP:0011842 ! Abnormal skeletal morphology [Term] id: HP:0001382 name: Joint hypermobility alt_id: HP:0001378 alt_id: HP:0005034 def: "The ability of a joint to move beyond its normal range of motion." [https://orcid.org/0000-0002-0736-9199] synonym: "Double-Jointed" EXACT layperson [] synonym: "Extensible joints" EXACT [] synonym: "Flexible joints" EXACT layperson [] synonym: "Hyperextensible joints" EXACT [] synonym: "Increased joint mobility" EXACT [] synonym: "Increased mobility of joints" EXACT layperson [] synonym: "Joint hyperextensibility" EXACT [] xref: SNOMEDCT_US:298181000 xref: UMLS:C1844820 is_a: HP:0000924 ! Abnormality of the skeletal system [Term] id: HP:0001385 name: Hip dysplasia alt_id: HP:0008787 def: "The presence of developmental dysplasia of the hip." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal formation of the hip" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Congenital hip dysplasia" EXACT [] xref: MSH:D006618 xref: SNOMEDCT_US:48334007 xref: SNOMEDCT_US:52781008 xref: UMLS:C0019555 is_a: HP:0011842 ! Abnormal skeletal morphology [Term] id: HP:0001386 name: Joint swelling synonym: "Joint swelling" EXACT layperson [] xref: SNOMEDCT_US:271771009 xref: UMLS:C0152031 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis is_a: HP:0011842 ! Abnormal skeletal morphology [Term] id: HP:0001387 name: Joint stiffness alt_id: HP:0002775 alt_id: HP:0003033 def: "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time." [https://orcid.org/0000-0002-0736-9199] synonym: "Joint stiffness" EXACT layperson [] synonym: "Stiff joint" EXACT layperson [] synonym: "Stiff joints" EXACT layperson [] xref: SNOMEDCT_US:84445001 xref: UMLS:C0162298 is_a: HP:0000924 ! Abnormality of the skeletal system property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0001388 name: Joint laxity alt_id: HP:0001380 alt_id: HP:0001383 alt_id: HP:0002771 def: "Lack of stability of a joint." [https://orcid.org/0000-0002-0736-9199] comment: Joint laxity may be caused by a number of factors including intraarticular disease and injury or slacking of extraarticular structures such as joint capsules, ligaments, and muscles. synonym: "Hyperlaxity" EXACT [] synonym: "Joint instability" EXACT layperson [https://orcid.org/0000-0002-6387-4317] synonym: "Joint ligamentous laxity" EXACT [] synonym: "Lax joints" EXACT layperson [] synonym: "Ligamentous laxity" EXACT [] synonym: "Loose-jointedness" EXACT layperson [] synonym: "Loosejointedness" EXACT layperson [] xref: MSH:D007593 xref: SNOMEDCT_US:27911000 xref: SNOMEDCT_US:298203008 xref: UMLS:C0086437 xref: UMLS:C0158359 is_a: HP:0000924 ! Abnormality of the skeletal system [Term] id: HP:0001392 name: Abnormality of the liver def: "An abnormality of the liver." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal liver" EXACT layperson [] synonym: "Abnormality of the liver" EXACT layperson [] synonym: "Liver abnormality" EXACT layperson [] synonym: "Liver disease" RELATED layperson [] xref: ICD10:Q44 xref: MSH:D008107 xref: SNOMEDCT_US:235856003 xref: UMLS:C0023895 xref: UMLS:C4021780 is_a: HP:0002012 ! Abnormality of the abdominal organs property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0001395 name: Hepatic fibrosis def: "The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process." [https://orcid.org/0000-0002-0736-9199] synonym: "Liver fibrosis" EXACT [] xref: MSH:D008103 xref: SNOMEDCT_US:62484002 xref: UMLS:C0239946 is_a: HP:0001392 ! Abnormality of the liver property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0001397 name: Hepatic steatosis alt_id: HP:0002252 alt_id: HP:0200121 def: "Steatosis is a term used to denote lipid accumulation within hepatocytes." [https://orcid.org/0000-0002-0736-9199, PMID:31603713] comment: Although steatosis is the hallmark of the fatty liver disease, it is not a specific feature because it can be seen as part of other disease processes, such as drug injury, Wilson disease, or hepatitis C virus infection (especially genotype-3). Involvement of less than 5% of the hepatocytes by steatosis is considered clinically insignificant and within reference range. Based on the morphologic appearance and the size of the lipid droplets within the cytoplasm of the hepatocytes, steatosis is characterized as macrovesicular or microvesicular. Macrovesicular steatosis is characterized by large lipid droplets occupying the cytoplasm, displacing the nucleus to the periphery (large droplet macrovesicular steatosis) or multiple small lipid droplets of variable size occupying the cytoplasm with the nucleus maintaining its central location (small droplet macrovesicular steatosis). Microvesicular steatosis is characterized by innumerable tiny, relatively uniform lipid vacuoles that result in a bubbly appearance of the hepatocytes. synonym: "Fatty infiltration of liver" EXACT layperson [] synonym: "Fatty liver" EXACT layperson [] synonym: "Liver steatosis" EXACT [] synonym: "Steatosis" EXACT [] xref: MSH:D005234 xref: OMIM:228100 xref: SNOMEDCT:197321007 xref: SNOMEDCT:442191002 xref: SNOMEDCT_US:197321007 xref: SNOMEDCT_US:442191002 xref: UMLS:C2711227 is_a: HP:0001392 ! Abnormality of the liver is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0001399 name: Hepatic failure synonym: "Liver failure" EXACT layperson [] xref: ICD10:K72 xref: MSH:D017093 xref: SNOMEDCT_US:59927004 xref: UMLS:C0085605 is_a: HP:0001410 ! Decreased liver function property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0001405 name: Periportal fibrosis def: "The presence of fibrosis affecting the interlobular stroma of liver." [https://orcid.org/0000-0002-0736-9199] comment: Liver fibrosis is not only the result of necrosis, collapse and scar formation but also the result of derangements in the synthesis and degradation of matrix by injured mesenchymal cells. xref: UMLS:C1849766 is_a: HP:0001395 ! Hepatic fibrosis [Term] id: HP:0001407 name: Hepatic cysts synonym: "Liver cysts" EXACT layperson [] xref: SNOMEDCT_US:85057007 xref: UMLS:C0267834 is_a: HP:0001392 ! Abnormality of the liver [Term] id: HP:0001410 name: Decreased liver function alt_id: HP:0004393 alt_id: HP:0005228 alt_id: HP:0006570 def: "Reduced ability of the liver to perform its functions." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased liver function" EXACT layperson [] synonym: "Hepatopathy" RELATED [] synonym: "Liver dysfunction" EXACT layperson [] synonym: "Liver dysfunction, mild" RELATED layperson [https://orcid.org/0000-0002-5316-1399] xref: MSH:D008107 xref: SNOMEDCT_US:75183008 xref: SNOMEDCT_US:77981007 xref: UMLS:C0086565 xref: UMLS:C0232744 xref: UMLS:C3279149 is_a: HP:0025031 ! Abnormality of the digestive system [Term] id: HP:0001425 name: obsolete Heterogeneous synonym: "Genetic heterogeneity" EXACT [] is_obsolete: true replaced_by: HP:0000005 [Term] id: HP:0001427 name: Mitochondrial inheritance alt_id: HP:0001431 alt_id: HP:0001458 alt_id: HP:0001506 def: "A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy)." [https://orcid.org/0000-0002-0736-9199] synonym: "Mitochondrial" EXACT [] synonym: "mitochondrial" EXACT HP:0034334 [] xref: MSH:D050259 xref: UMLS:C0887941 is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0001438 name: Abnormal abdomen morphology def: "A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax." [https://orcid.org/0000-0002-0736-9199] synonym: "Abdomen abnormality" RELATED layperson [] synonym: "Abnormality of abdomen morphology" EXACT [] synonym: "Abnormality of abdomen structure" EXACT layperson [] synonym: "Abnormality of the abdomen" EXACT [] xref: ICD10:O65 xref: UMLS:C4020869 is_a: HP:0025031 ! Abnormality of the digestive system [Term] id: HP:0001476 name: Delayed closure of the anterior fontanelle def: "A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life." [https://orcid.org/0000-0002-0736-9199] synonym: "Delayed closure anterior fontanel" EXACT [] synonym: "Delayed closure of anterior fontanelle" EXACT [] synonym: "Delayed closure of the bregma sutures" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Delayed closure of the soft spot on the skull" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Late closure of anterior fontanelle" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Late closure of large anterior fontanel" EXACT [] synonym: "Late closure of soft spot on the skull" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Late closure of the bregma sutures" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Later than typical closing of soft spot of skull" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Persistent anterior fontanelle" EXACT [] xref: SNOMEDCT_US:295091000119100 xref: UMLS:C3840083 xref: UMLS:C4072831 is_a: HP:0000236 ! Abnormality of the anterior fontanelle [Term] id: HP:0001482 name: Subcutaneous nodule alt_id: HP:0005903 def: "Slightly elevated lesions on or in the skin with a diameter of over 5 mm." [https://orcid.org/0000-0002-0736-9199] comment: Subcutaneous nodules may move freely within the dermis or may be fixed to skin above or subcutaneous tissue below. subset: hposlim_core synonym: "Firm lump under the skin" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Growth of abnormal tissue under the skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Multiple, subcutaneous nodules" RELATED [] synonym: "Nodule below the skin" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Subcutaneous nodules" RELATED plural_form [] xref: SNOMEDCT_US:95325000 xref: UMLS:C0151811 xref: UMLS:C0746926 is_a: HP:0011121 ! Abnormal skin morphology [Term] id: HP:0001488 name: Bilateral ptosis synonym: "Drooping of both upper eyelids" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1865916 is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0001495 name: Carpal osteolysis def: "Osteolysis affecting carpal bones." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Carpal bone osteolysis" EXACT [] xref: UMLS:C1833734 is_a: HP:0009810 ! Abnormality of upper limb joint is_a: HP:0040070 ! Abnormal upper limb bone morphology [Term] id: HP:0001507 name: Growth abnormality alt_id: HP:0008904 synonym: "Abnormal growth" EXACT layperson [] synonym: "Growth abnormality" EXACT layperson [] synonym: "Growth issue" EXACT layperson [] xref: UMLS:C0262361 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001508 name: Failure to thrive alt_id: HP:0001535 alt_id: HP:0008853 alt_id: HP:0008878 alt_id: HP:0008916 def: "Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm." [https://orcid.org/0000-0002-0736-9199] comment: Although there is no clear consensus on the exact definition of FTT, it is usually diagnoses in a child growing below the 3rd percentile or in a child whose decreased growth has cross two major growth percentiles (for example, from above the 75th percentile to below the 25th percentile). synonym: "Faltering weight" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Poor weight gain" RELATED layperson [] synonym: "Postnatal failure to thrive" EXACT [] synonym: "Undergrowth" BROAD layperson [] synonym: "Weight faltering" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:36440009 xref: SNOMEDCT_US:432788009 xref: UMLS:C0231246 xref: UMLS:C2315100 is_a: HP:0004325 ! Decreased body weight [Term] id: HP:0001510 name: Growth delay alt_id: HP:0001434 alt_id: HP:0001512 alt_id: HP:0001514 alt_id: HP:0001517 alt_id: HP:0001532 alt_id: HP:0008847 alt_id: HP:0008870 alt_id: HP:0008886 alt_id: HP:0008893 alt_id: HP:0008926 def: "A deficiency or slowing down of growth pre- and postnatally." [https://orcid.org/0000-0002-0736-9199] comment: Poor or abnormally slow gains in weight or height in a child. synonym: "Delayed growth" EXACT layperson [] synonym: "Growth deficiency" EXACT layperson [] synonym: "Growth delay" EXACT layperson [] synonym: "Growth failure" EXACT layperson [] synonym: "Growth retardation" EXACT layperson [] synonym: "Poor growth" EXACT layperson [] synonym: "Retarded growth" EXACT layperson [] synonym: "Very poor growth" RELATED layperson [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:276617005 xref: SNOMEDCT_US:444896005 xref: SNOMEDCT_US:59576002 xref: UMLS:C0151686 xref: UMLS:C0456070 xref: UMLS:C0878787 xref: UMLS:C1837385 xref: UMLS:C3552463 is_a: HP:0001507 ! Growth abnormality [Term] id: HP:0001518 name: Small for gestational age alt_id: HP:0001422 alt_id: HP:0008849 alt_id: HP:0008919 alt_id: HP:0008927 def: "Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age." [https://orcid.org/0000-0002-6410-0882] synonym: "Birth weight less than 10th percentile" EXACT layperson [] synonym: "Low birth weight" EXACT layperson [] synonym: "Small for gestational age" EXACT layperson [] xref: MSH:D007230 xref: SNOMEDCT_US:267258002 xref: SNOMEDCT_US:276610007 xref: UMLS:C0024032 xref: UMLS:C0235991 is_a: HP:0004325 ! Decreased body weight [Term] id: HP:0001520 name: Large for gestational age alt_id: HP:0001825 def: "The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age." [eMedicine:262679, https://orcid.org/0000-0002-0736-9199] comment: Fetal macrosomia has been defined in several different ways, including birth weight of 4000-4500 g (8 lb 13 oz to 9 lb 15 oz) or greater than 90% for gestational age after correcting for neonatal sex and ethnicity. Based on these definitions, macrosomia affects 1-10% of all pregnancies. A diagnosis of fetal macrosomia can be made only by measuring birth weight after delivery; therefore, the condition is confirmed only retrospectively, ie, after delivery of the neonate. synonym: "Birth weight > 90th percentile" EXACT layperson [] synonym: "Birthweight > 90th percentile" EXACT layperson [] synonym: "Fetal macrosomia" EXACT [] synonym: "Foetal macrosomia" EXACT uk_spelling [] synonym: "Macrosomia" EXACT [] synonym: "Macrosomia, neonatal" EXACT [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1848395 is_a: HP:0004324 ! Increased body weight [Term] id: HP:0001522 name: Death in infancy alt_id: HP:0003816 alt_id: HP:0003817 alt_id: HP:0003818 alt_id: HP:0003823 alt_id: HP:0003827 def: "Death within the first 24 months of life." [https://orcid.org/0000-0002-0736-9199] synonym: "Death in early childhood" RELATED layperson [] synonym: "Death in infancy" EXACT layperson [] synonym: "Infantile death" EXACT layperson [] synonym: "Lethal in infancy" EXACT layperson [] xref: UMLS:C1844947 xref: UMLS:C1858430 is_a: EFO:0004352 ! mortality property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0001525 name: Severe failure to thrive alt_id: HP:0008876 synonym: "Marked failure to thrive" EXACT [] synonym: "Severe faltering weight" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Severe postnatal failure to thrive" EXACT [] synonym: "Severe weight faltering" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1855514 is_a: HP:0001508 ! Failure to thrive [Term] id: HP:0001537 name: Umbilical hernia def: "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Umbilical hernias" EXACT [] xref: Fyler:4445 xref: SNOMEDCT_US:396347007 xref: UMLS:C0019322 is_a: HP:0004299 ! Hernia of the abdominal wall property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0001541 name: Ascites def: "Accumulation of fluid in the peritoneal cavity." [https://orcid.org/0000-0002-0736-9199] comment: Ascites is commonly associated with liver disease that has resulted in portal hypertension and low serum albumin levels. subset: hposlim_core synonym: "Accumulation of fluid in the abdomen" EXACT layperson [] xref: MSH:D001201 xref: SNOMEDCT_US:389026000 xref: UMLS:C0003962 is_a: HP:0001438 ! Abnormal abdomen morphology property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0001548 name: Overgrowth def: "Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference." [https://orcid.org/0000-0002-0736-9199] synonym: "General overgrowth" EXACT layperson [] synonym: "Generalised overgrowth" RELATED uk_spelling [] synonym: "Generalized overgrowth" RELATED [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1849265 xref: UMLS:C1851731 xref: UMLS:C3150281 is_a: HP:0000098 ! Tall stature [Term] id: HP:0001555 name: Asymmetry of the thorax def: "Lack of symmetry between the left and right halves of the thorax." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Asymmetric chest" EXACT layperson [] xref: UMLS:C1858033 is_a: HP:0000765 ! Abnormal thorax morphology [Term] id: HP:0001558 name: Decreased fetal movement alt_id: HP:0001559 alt_id: HP:0006840 alt_id: HP:0007630 alt_id: HP:0007631 def: "An abnormal reduction in quantity or strength of fetal movements." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased fetal activity" EXACT [] synonym: "Decreased fetal movements" EXACT [] synonym: "Decreased foetal activity" EXACT uk_spelling [] synonym: "Decreased foetal movement" EXACT uk_spelling [] synonym: "Decreased foetal movements" EXACT uk_spelling [] synonym: "Decreased movement in utero" EXACT [] synonym: "Dminished fetal movement" EXACT [] synonym: "Dminished foetal movement" EXACT uk_spelling [] synonym: "Fetal hypokinesia" EXACT [] synonym: "Foetal hypokinesia" EXACT uk_spelling [] synonym: "Less than 10 fetal movements in 12 hours" EXACT layperson [PMID:2729383] synonym: "Less than 10 foetal movements in 12 hours" EXACT uk_spelling [] synonym: "Reduced fetal movement" EXACT [] synonym: "Reduced fetal movements" EXACT [] synonym: "Reduced foetal movement" EXACT uk_spelling [] synonym: "Reduced foetal movements" EXACT uk_spelling [] xref: SNOMEDCT_US:276369006 xref: UMLS:C0235659 is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0001560 name: Abnormality of the amniotic fluid def: "Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal amniotic fluid" EXACT [] xref: SNOMEDCT_US:42170009 xref: UMLS:C0266781 is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0001561 name: Polyhydramnios alt_id: HP:0005098 def: "The presence of excess amniotic fluid in the uterus during pregnancy." [https://orcid.org/0000-0002-0736-9199] comment: Polyhydramnios is diagnosed if the deepest vertical pool of amniotic fluid is more than 8 cm or amniotic fluid index is more than 95th percentile for the corresponding gestational age. synonym: "High levels of amniotic fluid" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Hydramnios" EXACT [] synonym: "Increased amniotic fluid index" RELATED [] xref: MSH:D006831 xref: SNOMEDCT_US:86203003 xref: UMLS:C0020224 is_a: HP:0001560 ! Abnormality of the amniotic fluid [Term] id: HP:0001574 name: Abnormality of the integument def: "An abnormality of the integument, which consists of the skin and the superficial fascia." [https://orcid.org/0000-0002-0736-9199] comment: Abnormality of skin, hair, or nails. xref: UMLS:C4025761 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001575 name: obsolete Mood changes is_obsolete: true replaced_by: HP:0000712 [Term] id: HP:0001583 name: Rotary nystagmus def: "A form of nystagmus in which the eyeball makes rotary motions around the axis." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Rotatory Nystagmus" EXACT [] xref: MSH:D009759 xref: SNOMEDCT_US:44526006 xref: SNOMEDCT_US:95783006 xref: UMLS:C0240595 is_a: HP:0000639 ! Nystagmus [Term] id: HP:0001591 name: Bell-shaped thorax alt_id: HP:0006626 alt_id: HP:0006664 def: "The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter." [https://orcid.org/0000-0002-0736-9199] comment: A bell-shaped thorax is a non-specific finding. In newborns, bell-spahed thorax can indicate a history of intrauterine neuromuscular abnormalities. subset: hposlim_core synonym: "Bell-shaped chest" EXACT [] synonym: "Constricted, bell-shaped thorax" EXACT [] synonym: "Narrow, bell-shaped thorax" EXACT [] xref: UMLS:C1865186 is_a: HP:0000765 ! Abnormal thorax morphology [Term] id: HP:0001597 name: Abnormality of the nail def: "Abnormality of the nail." [https://orcid.org/0000-0002-0736-9199] comment: Abnormality of the fingernails and/or toenails. synonym: "Abnormality of the nail" EXACT layperson [] synonym: "Nail disease" RELATED layperson [] xref: MSH:D009260 xref: MSH:D009264 xref: SNOMEDCT_US:17790008 xref: UMLS:C0027339 xref: UMLS:C0853087 is_a: HP:0001574 ! Abnormality of the integument [Term] id: HP:0001600 name: Abnormality of the larynx def: "An abnormality of the larynx." [https://orcid.org/0000-0002-0736-9199] synonym: "Laryngeal abnormalities" EXACT [] synonym: "Laryngeal anomalies" EXACT [] xref: UMLS:C4021777 is_a: HP:0002086 ! Abnormality of the respiratory system [Term] id: HP:0001601 name: Laryngomalacia def: "Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration." [https://orcid.org/0000-0002-0736-9199] comment: Laryngomalacia may affect the epiglottis, the arytenoid cartilages, or both. It is the most common cause of congenital stridor. synonym: "Softening of voice box tissue" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D055092 xref: SNOMEDCT_US:38086007 xref: UMLS:C0264303 is_a: HP:0025423 ! Abnormal larynx morphology [Term] id: HP:0001605 name: Vocal cord paralysis alt_id: HP:0001606 alt_id: HP:0006847 def: "A loss of the ability to move the vocal folds." [https://orcid.org/0000-0002-0736-9199] comment: Vocal cord paralysis may lead to signs and symptoms such as hoarseness, inability to speak loudly, choking or coughing while eating with the risk of aspiration pneumonia. Affected patients may also experience breathing difficulties. synonym: "Inability to move vocal cords" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Laryngeal paralysis" EXACT [] xref: MSH:D014826 xref: SNOMEDCT_US:302912005 xref: UMLS:C0042928 xref: UMLS:C1854345 is_a: HP:0003470 ! Paralysis is_a: HP:0031801 ! Vocal cord dysfunction [Term] id: HP:0001611 name: Hypernasal speech alt_id: HP:0001614 def: "A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages." [] comment: May be associated with incomplete or weak closure of the velum. Examination is by nasal endoscopy. synonym: "Hypernasal voice" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-2592-4715, https://orcid.org/0000-0002-9593-5508, https://orcid.org/0000-0003-3777-1389] synonym: "Nasal speech" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-2592-4715, https://orcid.org/0000-0002-9593-5508, https://orcid.org/0000-0003-3777-1389] synonym: "Nasal voice" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-2592-4715, https://orcid.org/0000-0002-9593-5508, https://orcid.org/0000-0003-3777-1389] xref: SNOMEDCT_US:229645001 xref: SNOMEDCT_US:289190003 xref: UMLS:C0454555 xref: UMLS:C0566620 is_a: HP:0000118 ! Phenotypic abnormality property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-2592-4715 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-9593-5508 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389 [Term] id: HP:0001620 name: High pitched voice alt_id: HP:0001610 alt_id: HP:0008374 alt_id: HP:0008377 alt_id: HP:0008378 alt_id: HP:0008379 alt_id: HP:0009146 def: "An abnormal increase in the pitch (frequency) of the voice." [] synonym: "Abnormally high-pitched voice" EXACT [] synonym: "High pitched voice" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-2592-4715, https://orcid.org/0000-0002-9593-5508, https://orcid.org/0000-0003-3777-1389] synonym: "High-pitched voice" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-2592-4715, https://orcid.org/0000-0002-9593-5508, https://orcid.org/0000-0003-3777-1389] xref: SNOMEDCT_US:51406002 xref: UMLS:C0241703 is_a: HP:0002167 ! Abnormality of speech or vocalization property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-2592-4715 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-9593-5508 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389 [Term] id: HP:0001623 name: Breech presentation def: "A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first." [https://orcid.org/0000-0002-0736-9199] synonym: "Breech presentation at birth" EXACT [] synonym: "Feet or buttocks of fetus positioned near opening of uterus" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Feet or buttocks of foetus positioned near opening of uterus" EXACT uk_spelling [] xref: MSH:D001946 xref: SNOMEDCT_US:249101006 xref: SNOMEDCT_US:6096002 xref: UMLS:C0006157 is_a: HP:0001787 ! Abnormal delivery [Term] id: HP:0001626 name: Abnormality of the cardiovascular system alt_id: HP:0003116 def: "Any abnormality of the cardiovascular system." [https://orcid.org/0000-0002-0736-9199] comment: The cardiovascular system consists of the heart, vasculature, and the lymphatic system. synonym: "Abnormality of the cardiovascular system" EXACT layperson [] synonym: "Cardiovascular abnormality" EXACT layperson [] synonym: "Cardiovascular disease" RELATED layperson [] xref: ICD10:R09 xref: MSH:D002318 xref: MSH:D018376 xref: SNOMEDCT_US:49601007 xref: UMLS:C0007222 xref: UMLS:C0243050 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001627 name: Abnormal heart morphology alt_id: HP:3000001 def: "Any structural anomaly of the heart." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of cardiac morphology" EXACT [] synonym: "Abnormality of the heart" EXACT layperson [] synonym: "Abnormally shaped heart" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Cardiac abnormality" EXACT [] synonym: "Cardiac anomalies" EXACT [] synonym: "Cardiac anomaly" EXACT [] synonym: "Congenital heart defect" EXACT [] synonym: "Congenital heart defects" EXACT [] synonym: "Heart defect" EXACT layperson [] xref: MSH:D006330 xref: SNOMEDCT_US:13213009 xref: UMLS:C0018798 xref: UMLS:C0152021 is_a: HP:0030680 ! Abnormal cardiovascular system morphology [Term] id: HP:0001634 name: Mitral valve prolapse def: "One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle." [https://orcid.org/0000-0002-0736-9199] comment: Mitral valve prolapse can be associated with mitral regurgitation. xref: Fyler:1533 xref: MeSH:D008945 xref: MSH:D008945 xref: SNOMEDCT_US:409712001 xref: SNOMEDCT_US:8074002 xref: UMLS:C0026267 is_a: EFO:0009557 ! mitral valve disease is_a: HP:0001627 ! Abnormal heart morphology property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0001636 name: Tetralogy of Fallot def: "A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present." [https://orcid.org/0000-0002-0736-9199] synonym: "Tetrology of fallot" EXACT [] xref: DOID:6419 xref: ICD-10:Q21.3 xref: ICD9:745.2 xref: MSH:D013771 xref: NCIt:C84505 xref: OMIM:187500 xref: SNOMEDCT:86299006 xref: SNOMEDCT_US:86299006 xref: UMLS:C0039685 is_a: HP:0001710 ! Conotruncal defect property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0001642 name: Pulmonic stenosis def: "A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis)." [https://orcid.org/0000-0002-0736-9199] comment: Pulmonic stenosis is often seen as a part of Fallot' s tetralogy, in which case the events leading to the formation of the overriding aorta are also believed to be a cause of the pulmonic stenosis. The pulmonic stenosis is the major cause of the malformations seen in patients with Fallot tetralogy, with the other associated malformations acting as compensatory mechanisms to the pulmonic stenosis. The degree of stenosis varies between individuals with TOF, and is the primary determinant of symptoms and severity. synonym: "Narrowing of pulmonic valve" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Pulmonary stenosis" EXACT [] synonym: "Pulmonary valve stenosis" EXACT [] synonym: "Pulmonic valve stenosis" EXACT [] xref: Fyler:1611 xref: MSH:D011666 xref: SNOMEDCT_US:56786000 xref: UMLS:C1956257 is_a: HP:0011025 ! Abnormal cardiovascular system physiology is_a: HP:0030680 ! Abnormal cardiovascular system morphology [Term] id: HP:0001643 name: Patent ductus arteriosus def: "In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences." [https://orcid.org/0000-0002-0736-9199, PMID:20421261] synonym: "Ductus arteriosus" EXACT [] synonym: "Patent ductus Botalli" EXACT [] synonym: "PDA" EXACT abbreviation [] synonym: "Persistent arterial duct" EXACT [] synonym: "Persistent ductus arteriosus" EXACT [] xref: Fyler:2100 xref: MSH:D004374 xref: SNOMEDCT_US:83330001 xref: UMLS:C0013274 is_a: HP:0002597 ! Abnormality of the vasculature is_a: HP:0030680 ! Abnormal cardiovascular system morphology [Term] id: HP:0001647 name: Bicuspid aortic valve def: "The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps)." [https://orcid.org/0000-0002-0736-9199, PMID:17467434, PMID:24827036] comment: A normal aortic valve is composed of three aortic-valve cusps, each semilunar in appearance. The leaflets are housed within a small dilatation of the proximal aorta associated with each cusp, called the sinuses of Valsalva or aortic sinuses, and their association with the respective coronary ostia identifies them: left, right, and non-coronary sinuses. Each cusp is attached to the wall of the aorta by the outward edges of its semicircular border, and the attachment point between each leaflet is called a commissure [PMID:24827036]. synonym: "Aortic valve has two leaflets rather than three" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:C562388 xref: SNOMEDCT_US:72352009 xref: UMLS:C0149630 is_a: HP:0001627 ! Abnormal heart morphology property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0001649 name: Tachycardia alt_id: HP:0001673 alt_id: HP:0001720 def: "A rapid heartrate that exceeds the range of the normal resting heartrate for age." [https://orcid.org/0000-0002-0736-9199] synonym: "Elevated heart rate" RELATED layperson [] synonym: "Fast heart rate" EXACT layperson [] synonym: "Heart racing" EXACT layperson [] synonym: "Increased heart rate" RELATED layperson [] synonym: "Racing heart" EXACT layperson [] synonym: "Rapid heart beat" RELATED layperson [] xref: MSH:D013610 xref: SNOMEDCT_US:3424008 xref: SNOMEDCT_US:86651002 xref: UMLS:C0039231 xref: UMLS:C4020868 is_a: HP:0004308 ! Ventricular arrhythmia property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0001651 name: Dextrocardia def: "The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or \"mirror reflection\") of the anatomical location of the heart in which the heart is locate on the right side instead of the left." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0009-0006-4530-3154] synonym: "Heart tip and four chambers point towards right side of body" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Thoracic situs inversus" EXACT [] xref: EPCC:02.01.02 xref: Fyler:0110 xref: Fyler:110 xref: ICD-10:Q24.0 xref: MSH:D003914 xref: SNOMEDCT_US:27637000 xref: UMLS:C0011813 is_a: HP:0001627 ! Abnormal heart morphology [Term] id: HP:0001653 name: Mitral regurgitation def: "An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction." [https://orcid.org/0000-0002-0736-9199] synonym: "Mitral incompetence" EXACT [] synonym: "Mitral insufficiency" EXACT [] synonym: "Mitral regurgitation, mild" RELATED [] synonym: "Mitral valve insufficiency" EXACT [] synonym: "Mitral valve regurgitation" EXACT [] xref: Fyler:1151 xref: MSH:D008944 xref: SNOMEDCT_US:48724000 xref: UMLS:C0026266 xref: UMLS:C3551535 is_a: HP:0031481 ! Abnormal mitral valve physiology [Term] id: HP:0001655 name: Patent foramen ovale def: "Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] comment: The foramen ovale is located in the atrial septum and is essential for proper fetal circulation. With separation from the placenta and with the first few breaths, the left atrium fills with blood returning from the lungs and closes the foramen ovale. Subsequently, during the first years of life, the foramen ovale seals shut. synonym: "Persistent foramen ovale" EXACT [] xref: Fyler:2020 xref: ICD-10:Q21.1 xref: MSH:D054092 xref: SNOMEDCT_US:204317008 xref: UMLS:C0016522 is_a: HP:0001671 ! Abnormal cardiac septum morphology [Term] id: HP:0001657 name: Prolonged QT interval def: "Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG)." [https://orcid.org/0000-0002-0736-9199] comment: The QT interval represents electrical depolarization and repolarization of the left and right ventricles. synonym: "Long Q-T syndrome" RELATED [] synonym: "Long QT syndrome" EXACT [] synonym: "Prolong qt interval on ekg" EXACT [] xref: DOID:2843 xref: ICD9:426.82 xref: MeSH:D008133 xref: NCIt:C34786 xref: SNOMEDCT:111975006 xref: SNOMEDCT_US:111975006 xref: UMLS:C0023976 xref: UMLS:C0151878 is_a: HP:0003115 ! Abnormal EKG [Term] id: HP:0001660 name: Truncus arteriosus def: "A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] synonym: "Common arterial trunk" EXACT [] synonym: "Persistant truncus arteriosus" RELATED [] xref: Fyler:0500 xref: Fyler:500 xref: ICD-10:Q20.0 xref: MSH:D014338 xref: SNOMEDCT_US:58140002 xref: UMLS:C0041206 xref: UMLS:C4020867 is_a: HP:0002597 ! Abnormality of the vasculature is_a: HP:0030680 ! Abnormal cardiovascular system morphology [Term] id: HP:0001662 name: Bradycardia def: "A slower than normal heart rate (in adults, slower than 60 beats per minute)." [https://orcid.org/0000-0002-0736-9199] synonym: "Brachycardia" EXACT [] synonym: "Slow heartbeats" EXACT layperson [] xref: MSH:D001919 xref: SNOMEDCT_US:48867003 xref: UMLS:C0428977 is_a: HP:0030956 ! Abnormality of cardiovascular system electrophysiology property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0001667 name: Right ventricular hypertrophy def: "In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal." [https://orcid.org/0000-0002-0736-9199] synonym: "Heart right ventricle hypertrophy" EXACT [https://orcid.org/0000-0001-5208-3432] xref: Fyler:3609 xref: MSH:D017380 xref: SNOMEDCT_US:89792004 xref: UMLS:C0162770 is_a: HP:0001627 ! Abnormal heart morphology [Term] id: HP:0001671 name: Abnormal cardiac septum morphology alt_id: HP:0001690 alt_id: HP:0004760 def: "An anomaly of the intra-atrial or intraventricular septum." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the cardiac septa" EXACT [] synonym: "Heart septal defect" EXACT [] synonym: "Septal defects" EXACT plural_form [] xref: ICD10:Q21 xref: MSH:D006343 xref: SNOMEDCT_US:253273004 xref: SNOMEDCT_US:396351009 xref: SNOMEDCT_US:59494005 xref: UMLS:C0018816 is_a: HP:0001627 ! Abnormal heart morphology property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0001679 name: Abnormal aortic morphology alt_id: HP:0030963 def: "An abnormality of the aorta." [https://orcid.org/0000-0002-0736-9199, PMID:24910511] synonym: "Abnormal aorta morphology" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the aorta" EXACT [] xref: Fyler:1453 xref: UMLS:C4025756 is_a: HP:0002597 ! Abnormality of the vasculature is_a: HP:0030680 ! Abnormal cardiovascular system morphology [Term] id: HP:0001684 name: Secundum atrial septal defect alt_id: HP:0200131 def: "A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] synonym: "Atrial septal defect, ostium secundum type" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Ostium secundum atrial septal defect" EXACT [] synonym: "Patent ostium secundum" EXACT [] xref: Fyler:2000 xref: ICD-10:Q21.1 xref: MSH:D006344 xref: SNOMEDCT_US:204315000 xref: UMLS:C0344724 is_a: HP:0001671 ! Abnormal cardiac septum morphology [Term] id: HP:0001685 name: Myocardial fibrosis def: "Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts." [PMID:28157267] comment: Myocardial fibrosis disrupts the myocardial architecture, contributes to myocardial disarray, and determines mechanical, electrical, and vasomotor dysfunction, thus promoting the progression of cardiac diseases to heart failure. xref: UMLS:C0151654 is_a: HP:0001627 ! Abnormal heart morphology [Term] id: HP:0001693 name: Cardiac shunt def: "Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:442119001 xref: UMLS:C0232180 is_a: HP:0011028 ! Abnormality of blood circulation [Term] id: HP:0001699 name: Sudden death def: "Rapid and unexpected death." [https://orcid.org/0000-0002-0736-9199] xref: MSH:D003645 xref: SNOMEDCT_US:26636000 xref: UMLS:C0011071 is_a: HP:0025142 ! Constitutional symptom [Term] id: HP:0001710 name: Conotruncal defect def: "A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle." [https://orcid.org/0000-0002-0736-9199] synonym: "Conotruncal heart defects" EXACT [] xref: UMLS:C1853238 is_a: HP:0001627 ! Abnormal heart morphology is_a: HP:0002597 ! Abnormality of the vasculature [Term] id: HP:0001730 name: Progressive hearing impairment alt_id: HP:0008590 def: "A progressive form of hearing impairment." [https://orcid.org/0000-0002-0736-9199] synonym: "Progressive hearing loss" EXACT [] xref: UMLS:C1842138 is_a: HP:0000364 ! Hearing abnormality [Term] id: HP:0001737 name: Pancreatic cysts def: "A cyst of the pancreas that possess a lining of mucous epithelium." [https://orcid.org/0000-0002-0736-9199] comment: Pancreatic cysts are to be distinguished from pancreatic pseudocysts that do not possess a lining of mucous epithelium. synonym: "Multiple pancreatic cysts" RELATED layperson [] synonym: "Pancreatic cyst" RELATED layperson [] synonym: "Pancreatic cysts" EXACT layperson [] xref: MSH:D010181 xref: SNOMEDCT_US:31258000 xref: UMLS:C0030283 xref: UMLS:C1860394 is_a: HP:0002012 ! Abnormality of the abdominal organs [Term] id: HP:0001742 name: Nasal congestion def: "Reduced ability to pass air through the nasal cavity often leading to mouth breathing." [https://orcid.org/0000-0002-0736-9199] synonym: "Blockage of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Congestion of nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Nasal blockage" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Nasal obstruction" EXACT layperson [] synonym: "Obstruction of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Stuffy nose" EXACT layperson [http://www.entnet.org/content/stuffy-nose] xref: MSH:D015508 xref: SNOMEDCT_US:232209000 xref: SNOMEDCT_US:267100006 xref: SNOMEDCT_US:68235000 xref: UMLS:C0027424 xref: UMLS:C0027429 is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0001744 name: Splenomegaly alt_id: HP:0001745 alt_id: HP:0006269 def: "Abnormal increased size of the spleen." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased spleen size" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D013163 xref: SNOMEDCT_US:16294009 xref: UMLS:C0038002 is_a: HP:0001438 ! Abnormal abdomen morphology is_a: HP:0002012 ! Abnormality of the abdominal organs is_a: HP:0100763 ! Abnormality of the lymphatic system property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0001760 name: Abnormal foot morphology alt_id: HP:0010216 alt_id: HP:0010611 def: "An abnormality of the skeleton of foot." [https://orcid.org/0000-0002-0736-9199] comment: A disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, congenital vertical talus (rocker bottom foot), and many others. synonym: "Abnormal feet structure" EXACT layperson [] synonym: "Abnormality of the feet" EXACT layperson [] synonym: "Abnormality of the foot" EXACT layperson [] synonym: "Foot deformities" EXACT layperson [] synonym: "Foot deformity" EXACT layperson [] xref: ICD10:Q66 xref: MSH:D005530 xref: SNOMEDCT_US:229844004 xref: UMLS:C0016506 is_a: HP:0002814 ! Abnormality of the lower limb property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0001761 name: Pes cavus alt_id: HP:0008075 def: "An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight)." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] subset: hposlim_core synonym: "Cavus foot" EXACT [] synonym: "High-arched foot" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MEDDRA:10034743 "Pes cavus" xref: SNOMEDCT_US:205091006 xref: UMLS:C0728829 is_a: HP:0000924 ! Abnormality of the skeletal system is_a: HP:0001760 ! Abnormal foot morphology [Term] id: HP:0001762 name: Talipes equinovarus def: "Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg." [https://orcid.org/0000-0002-0736-9199, PMID:32491773] comment: Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus. subset: hposlim_core synonym: "Club feet" EXACT layperson [] synonym: "Club foot" EXACT layperson [] synonym: "Clubbing of feet" EXACT [] synonym: "Clubfeet" EXACT layperson [] synonym: "Clubfoot" EXACT layperson [] synonym: "Equinovarus" EXACT [] synonym: "Foot, talipes equinovarus" EXACT [] synonym: "Pes equinovarus" EXACT [] synonym: "Pes equinus" EXACT [] synonym: "Talipes varus" EXACT [https://orcid.org/0000-0001-5208-3432] xref: Fyler:4171 xref: MEDDRA:10043106 "Talipes equinovarus, congenital" xref: MSH:D003025 xref: SNOMEDCT_US:249808002 xref: SNOMEDCT_US:397932003 xref: UMLS:C0009081 is_a: HP:0001883 ! Talipes [Term] id: HP:0001769 name: Broad foot def: "A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length." [PMID:19125433] subset: hposlim_core synonym: "Broad feet" EXACT layperson [] synonym: "Broad foot" EXACT layperson [] synonym: "Wide foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1866241 is_a: HP:0001760 ! Abnormal foot morphology [Term] id: HP:0001770 name: Toe syndactyly alt_id: HP:0001828 alt_id: HP:0005677 def: "Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \"Symphalangism\"." [https://orcid.org/0000-0002-0736-9199] synonym: "Foot syndactyly" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Fused toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Syndactyly of feet" EXACT [] synonym: "Syndactyly of toes" EXACT [] synonym: "Webbed toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:32113001 xref: UMLS:C0265660 is_a: HP:0001780 ! Abnormal toe morphology [Term] id: HP:0001771 name: Achilles tendon contracture alt_id: HP:0004711 alt_id: HP:0005031 alt_id: HP:0006430 def: "A contracture of the Achilles tendon." [https://orcid.org/0000-0002-0736-9199] synonym: "Achilles tendon contractures" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Contractures of the Achilles tendon" EXACT [] synonym: "Shortening of the achilles tendon" EXACT layperson [] synonym: "Tight achilles tendon" EXACT layperson [] xref: SNOMEDCT_US:203076007 xref: UMLS:C0410264 is_a: HP:0001760 ! Abnormal foot morphology is_a: HP:0005750 ! Lower-limb joint contracture [Term] id: HP:0001773 name: Short foot alt_id: HP:0001764 alt_id: HP:0001766 alt_id: HP:0001778 alt_id: HP:0008135 def: "A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective)." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] synonym: "Hypoplastic feet" EXACT [] synonym: "Short feet" EXACT layperson [] synonym: "Short foot" EXACT layperson [] synonym: "Small feet" EXACT layperson [] xref: UMLS:C1848673 is_a: HP:0001760 ! Abnormal foot morphology is_a: HP:0011842 ! Abnormal skeletal morphology [Term] id: HP:0001776 name: Bilateral talipes equinovarus def: "Bilateral clubfoot deformity." [https://orcid.org/0000-0002-0736-9199] synonym: "Bilateral clubfeet" EXACT [] synonym: "Bilateral clubfoot" EXACT [] synonym: "Club foot on both sides" EXACT layperson [] xref: UMLS:C1837835 is_a: HP:0001762 ! Talipes equinovarus [Term] id: HP:0001780 name: Abnormal toe morphology def: "An anomaly of a toe." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormalities of the toes" EXACT layperson [] synonym: "Abnormality of toe" EXACT layperson [] xref: UMLS:C2674738 is_a: HP:0001760 ! Abnormal foot morphology is_a: HP:0011297 ! Abnormal digit morphology [Term] id: HP:0001787 name: Abnormal delivery def: "An abnormality of the birth process." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal delivery" EXACT layperson [] synonym: "Delivery complication" EXACT layperson [] xref: SNOMEDCT_US:274127000 xref: UMLS:C0549629 is_a: HP:0001197 ! Abnormality of prenatal development or birth property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0001788 name: Premature rupture of membranes alt_id: HP:0002163 def: "Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor." [https://orcid.org/0000-0002-0736-9199] xref: MSH:D005322 xref: SNOMEDCT_US:237266003 xref: SNOMEDCT_US:44223004 xref: UMLS:C0015944 is_a: HP:0001787 ! Abnormal delivery [Term] id: HP:0001798 name: Anonychia alt_id: HP:0007593 alt_id: HP:0008384 def: "Aplasia of the nail." [https://orcid.org/0000-0002-0736-9199] comment: Total absence of nails. subset: hposlim_core synonym: "Absent nails" EXACT layperson [] synonym: "Aplastic nails" EXACT layperson [] xref: MSH:C536377 xref: SNOMEDCT_US:23610003 xref: UMLS:C0265998 is_a: HP:0008386 ! Aplasia/Hypoplasia of the nails [Term] id: HP:0001800 name: Hypoplastic toenails def: "Underdevelopment of the toenail." [https://orcid.org/0000-0002-0736-9199] synonym: "Underdeveloped toenails" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1837279 is_a: HP:0008386 ! Aplasia/Hypoplasia of the nails is_a: HP:0008388 ! Abnormal toenail morphology [Term] id: HP:0001822 name: Hallux valgus alt_id: HP:0004682 def: "Lateral deviation of the great toe (i.e., in the direction of the little toe)." [https://orcid.org/0000-0002-0736-9199] synonym: "Bunion" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Lateral deviation of great toe" EXACT [] synonym: "Lateral deviation of halluces" EXACT [] xref: MSH:D000071378 xref: MSH:D006215 xref: SNOMEDCT_US:122480009 xref: SNOMEDCT_US:415692008 xref: UMLS:C0006386 xref: UMLS:C0018536 is_a: HP:0001780 ! Abnormal toe morphology property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0001824 name: Weight loss def: "Reduction of total body weight." [https://orcid.org/0000-0002-0736-9199] synonym: "Loss of weight" EXACT [] xref: MSH:D015431 xref: NCIt:C3445 xref: SNOMEDCT:89362005 xref: SNOMEDCT_US:161832001 xref: SNOMEDCT_US:262285001 xref: SNOMEDCT_US:89362005 xref: UMLS:C0043096 xref: UMLS:C1262477 is_a: HP:0004325 ! Decreased body weight [Term] id: HP:0001830 name: Postaxial foot polydactyly alt_id: HP:0010346 def: "Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit." [https://orcid.org/0000-0002-0736-9199] comment: The modifier postaxial means that the supernumerary digit is not a hallux. synonym: "Extra toe attached near the little toe" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Fibular polydactyly" RELATED [] synonym: "Polydactyly affecting the 5th toe" EXACT [] synonym: "Postaxial polydactyly of feet" EXACT [] synonym: "Postaxial polydactyly of foot" EXACT [] synonym: "Posterior polydactyly of foot" EXACT [] xref: UMLS:C2112129 xref: UMLS:C4020865 is_a: HP:0001780 ! Abnormal toe morphology [Term] id: HP:0001831 name: Short toe alt_id: HP:0001767 alt_id: HP:0001781 alt_id: HP:0001855 alt_id: HP:0004701 alt_id: HP:0005889 alt_id: HP:0008099 def: "A toe that appears disproportionately short compared to the foot." [https://orcid.org/0000-0002-0736-9199] comment: This finding must be distinguished from digits that are of increased girth but of normal length and that of a long mid- and hind foot with normal digit lengths. The affected digits should be specified as described in the introductory comments. Note that we designate brachydactyly as a synonym, but this use of the term is distinct from the use of the same word in Bell's classification of brachdactyly. subset: hposlim_core synonym: "Brachydactyly of the foot" EXACT [] synonym: "Hypoplasia of the toe" EXACT [] synonym: "Hypoplastic toes" EXACT [] synonym: "Short foot phalanges" EXACT [] synonym: "Short toe" EXACT layperson [] synonym: "Short toes" EXACT layperson [] synonym: "Stubby toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1836195 is_a: HP:0001780 ! Abnormal toe morphology [Term] id: HP:0001838 name: Rocker bottom foot alt_id: HP:0001835 alt_id: HP:0004693 alt_id: HP:0010218 def: "The presence of both a prominent heel and a convex contour of the sole." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] comment: Congenital vertical talus is characterized by pes valgus, a rigid flatfoot deformity (as opposed to a flexible calcaneovalgus foot) caused by a malpositioned navicular bone at the neck of the talus; the ankle is in severe equinus and the forefoot in dorsiflexion, rocker bottom-like, accompanied by contraction of the talonavicular, deltoid and calcaneal cuboidal ligaments. The foot examination usually reveals a rigid foot with a "reversed" arch, a convex plantar surface, and a deep crease on the lateral dorsal side of the foot. The ankle joint is plantarflexed, while the midfoot and forefoot are extended upward. Lateral foot radiographs are helpful in confirming the diagnosis. subset: hposlim_core synonym: "Congenital vertical talus" EXACT [] synonym: "Rocker bottom feet" EXACT layperson [] synonym: "Rocker bottom foot" EXACT layperson [] synonym: "Rocker-bottom feet" EXACT layperson [] synonym: "Rockerbottom feet" EXACT layperson [] xref: MEDDRA:10066242 "Vertical talus" xref: MSH:C536345 xref: MSH:D005413 xref: SNOMEDCT_US:205082007 xref: SNOMEDCT_US:205359003 xref: UMLS:C0240912 is_a: HP:0008365 ! Abnormal talus morphology [Term] id: HP:0001840 name: Metatarsus adductus alt_id: HP:0001768 alt_id: HP:0010217 def: "The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] comment: Metatarsus varus (adductus) is one of the most common foot deformities, that is defined as a transverse plane deformity in Lisfranc's (tarsometatarsal) joints in which the metatarsals are deviated medially. The relationship between talus and calcaneus is normal. On inspection the toes angle abruptly towards the midline, creating a C-shaped lateral foot border with a prominent styloid process of the 5th metatarsal. The result is that the forefoot is twisted inwards relative to the heel, so that the sole faces the midline. subset: hposlim_core synonym: "Forefoot varus" EXACT [] synonym: "Front half of foot turns inward" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Intoe" RELATED [] synonym: "Metatarsus adductovarsus" EXACT [] synonym: "Metatarsus varus" EXACT [] xref: MSH:D000070592 xref: SNOMEDCT_US:77599005 xref: UMLS:C0231791 xref: UMLS:C4082169 is_a: HP:0001760 ! Abnormal foot morphology is_a: HP:0011842 ! Abnormal skeletal morphology [Term] id: HP:0001845 name: Overlapping toe def: "Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] comment: This descriptor is ordered depending on which toes are involved. The overriding toe is labeled, as specified in the introduction (item 3): e.g., T3,4. The ordering of the numbers specifies which toe is dorsal, i.e., with dorsum of the foot facing upward the toe on top is/are recorded first separated by a comma from the digit that is/are overlapped. Toes that are laterally deviated, but do not rest on top of adjacent toes should be coded as Clinodactyly. subset: hposlim_core synonym: "Crossover toe" RELATED layperson [] synonym: "Overlapping toe" EXACT layperson [] synonym: "Overlapping toes" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Overriding toes" EXACT layperson [] xref: SNOMEDCT_US:203541003 xref: UMLS:C0920299 is_a: HP:0001780 ! Abnormal toe morphology [Term] id: HP:0001848 name: Calcaneovalgus deformity alt_id: HP:0001774 alt_id: HP:0008120 def: "This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus)." [https://orcid.org/0000-0002-0736-9199] comment: Calcaneovalgus deformity may be related to abnormal positioning of the foot in utero and can resolve spontaneously after birth. synonym: "Calcaneovalgus" EXACT [] synonym: "Calcaneovalgus Foot" EXACT [] synonym: "Foot and ankle bend up toward shin of leg" BROAD layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Valgus position of the calcaneus" EXACT [] xref: UMLS:C1860450 is_a: HP:0001760 ! Abnormal foot morphology is_a: HP:0011842 ! Abnormal skeletal morphology [Term] id: HP:0001863 name: Toe clinodactyly def: "Bending or curvature of a toe in the tibial direction (i.e., towards the big toe)." [https://orcid.org/0000-0002-0736-9199] synonym: "Clinodactyly of feet" EXACT [] synonym: "Toe curvature" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021770 xref: UMLS:C4280587 is_a: HP:0001780 ! Abnormal toe morphology is_a: HP:0030084 ! Clinodactyly [Term] id: HP:0001864 name: Clinodactyly of the 5th toe def: "Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe)." [https://orcid.org/0000-0002-0736-9199] synonym: "Curvature of the little toe" BROAD [https://orcid.org/0000-0001-5208-3432] synonym: "Curvature of the pinkie toe" BROAD [https://orcid.org/0000-0001-5208-3432] synonym: "Curvature of the pinky toe" BROAD [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025741 xref: UMLS:C4280586 is_a: HP:0001863 ! Toe clinodactyly [Term] id: HP:0001869 name: Deep plantar creases def: "The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot." [https://orcid.org/0000-0002-0736-9199] synonym: "Deep wrinkles in soles of feet" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1857953 is_a: HP:0001760 ! Abnormal foot morphology is_a: HP:0011121 ! Abnormal skin morphology [Term] id: HP:0001871 name: Abnormality of blood and blood-forming tissues alt_id: HP:0003135 def: "An abnormality of the hematopoietic system." [https://orcid.org/0000-0002-0736-9199] comment: The hematopoietic system comprises the organs that are involved in the production of blood, primarily the bone marrow, spleen, tonsils, and lymph nodes. synonym: "Abnormality of blood and blood-forming tissues" EXACT layperson [] synonym: "Abnormality of the haematopoietic system" EXACT uk_spelling [] synonym: "Abnormality of the hematopoietic system" EXACT [] synonym: "Haematological abnormality" EXACT uk_spelling [] synonym: "Hematologic disease" RELATED [] synonym: "Hematological abnormality" EXACT [] xref: ICD10:R79 xref: MSH:D006402 xref: SNOMEDCT_US:191124002 xref: SNOMEDCT_US:34093004 xref: UMLS:C0018939 xref: UMLS:C0850715 xref: UMLS:C4020864 is_a: HP:0000118 ! Phenotypic abnormality property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0001873 name: Thrombocytopenia alt_id: HP:0001906 alt_id: HP:0004838 alt_id: HP:0008175 alt_id: HP:0008268 alt_id: HP:0008302 def: "A reduction in the number of circulating thrombocytes." [https://orcid.org/0000-0002-0736-9199] comment: Thrombocytopenia can be divided into three major causes; 1) low production of platelets in the bone marrow; 2) intravascular breakdown of thrombocytes; and 3) increased turnover of platelets in spleen or liver (extravascular). synonym: "Low platelet count" EXACT layperson [] xref: MeSH:D013921 xref: MSH:D013921 xref: OMIM:617441 xref: SNOMEDCT_US:302215000 xref: SNOMEDCT_US:415116008 xref: UMLS:C0040034 xref: UMLS:C0392386 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0001876 name: Pancytopenia def: "An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets)." [https://orcid.org/0000-0002-0736-9199] synonym: "Low blood cell count" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Pancytopaenia" EXACT uk_spelling [] xref: MSH:D010198 xref: SNOMEDCT_US:127034005 xref: UMLS:C0030312 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues [Term] id: HP:0001877 name: Abnormal erythrocyte morphology alt_id: HP:0010973 def: "Any structural abnormality of erythrocytes (red-blood cells)." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of erythrocytes" EXACT [] synonym: "Abnormality of erythroid lineage cell" RELATED [] synonym: "Abnormality of red blood cells" EXACT [] xref: ICD10:R71 xref: SNOMEDCT_US:12222001 xref: UMLS:C0391870 xref: UMLS:C4020862 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues [Term] id: HP:0001880 name: Eosinophilia def: "Increased count of eosinophils in the blood." [https://orcid.org/0009-0006-4530-3154] synonym: "High blood eosinophil count" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D004802 xref: UMLS:C0014457 is_a: HP:0001974 ! Leukocytosis [Term] id: HP:0001881 name: Abnormal leukocyte morphology def: "An abnormality of leukocytes." [https://orcid.org/0000-0002-0736-9199] comment: Leukocytes are nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue. synonym: "Abnormality of leukocytes" EXACT [] xref: ICD10:R72 xref: SNOMEDCT_US:134199001 xref: SNOMEDCT_US:24827003 xref: UMLS:C0152009 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues is_a: HP:0002715 ! Abnormality of the immune system [Term] id: HP:0001883 name: Talipes def: "A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus." [https://orcid.org/0009-0006-4530-3154] comment: Talipes means (a deformity of) foot and ankle. There are four types of talipes. (1) Talipes equinovarus - the foot is pointing inwards and down (the most common form), (2) Talipes equinovalgus - where the foot points outwards and down, (3) Talipes calcaneovarus - where the foot points inwards and up, (4) Talipes calcaneovalgus - where the foot points inwards and down. synonym: "Talipes foot deformities" RELATED [https://orcid.org/0000-0002-5316-1399] xref: MSH:D000070558 xref: SNOMEDCT_US:398309008 xref: UMLS:C1301937 xref: UMLS:C3552713 is_a: HP:0001760 ! Abnormal foot morphology [Term] id: HP:0001891 name: Iron deficiency anemia synonym: "Ferropenic" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Iron deficiency anaemia" EXACT uk_spelling [] synonym: "Iron-deficiency anaemia" EXACT uk_spelling [] synonym: "Iron-deficiency anemia" EXACT [] xref: DOID:11758 xref: ICD10:D50 xref: MSH:D018798 xref: NCIt:C84484 xref: SNOMEDCT:87522002 xref: SNOMEDCT_US:87522002 xref: UMLS:C0162316 is_a: HP:0010972 ! Anemia of inadequate production property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0001892 name: Abnormal bleeding alt_id: HP:0004830 alt_id: HP:0004834 alt_id: HP:0004849 alt_id: HP:0004862 alt_id: HP:0004865 alt_id: HP:0008183 def: "An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects." [https://orcid.org/0000-0002-0736-9199] comment: This term is kept for historical reasons. If possible, a more exact description of the phenotype (i.e., whether there is a vascular, platelet and coagulation defect) should be attempted. synonym: "Bleeding diathesis" EXACT [] synonym: "Bleeding tendency" EXACT layperson [] synonym: "Hemorrhagic diathesis" EXACT [] xref: SNOMEDCT_US:248250000 xref: SNOMEDCT_US:64779008 xref: UMLS:C1458140 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0001898 name: Increased red blood cell mass def: "The presence of an increased mass of red blood cells in the circulation." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased RBC mass" EXACT abbreviation [] xref: UMLS:C1853288 is_a: HP:0001877 ! Abnormal erythrocyte morphology [Term] id: HP:0001907 name: Thromboembolism def: "The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site." [https://orcid.org/0000-0002-0736-9199] synonym: "Blood clot in blood vessel" EXACT [http://purl.obolibrary.org/obo/hp#layperson, https://orcid.org/0000-0002-6548-5200] synonym: "Embolism and thrombosis" RELATED [] synonym: "Thromboembolic disease" EXACT [] synonym: "Thromboembolic events" EXACT [] xref: MSH:D013923 xref: MSH:D016769 xref: SNOMEDCT_US:13713005 xref: SNOMEDCT_US:371039008 xref: UMLS:C0040038 xref: UMLS:C0085307 is_a: HP:0001977 ! Abnormal thrombosis [Term] id: HP:0001913 name: Granulocytopenia def: "An abnormally reduced number of granulocytes in the blood." [https://orcid.org/0000-0002-0736-9199] xref: MSH:D000380 xref: SNOMEDCT_US:17182001 xref: SNOMEDCT_US:417672002 xref: UMLS:C0001824 is_a: HP:0001881 ! Abnormal leukocyte morphology [Term] id: HP:0001915 name: Aplastic anemia def: "Aplastic anemia is defined as pancytopenia with a hypocellular marrow." [https://orcid.org/0000-0002-0736-9199, PMID:21239768] comment: Aplastic anemia is characterized by reduced numbers of all blood cell types (red blood cells, white blood cells, and platelets) owing to reduced production. synonym: "Aplastic anaemia" EXACT uk_spelling [] xref: DOID:12449 xref: ICD10:D61 xref: MSH:D000741 xref: NCIt:C2870 xref: OMIM:609135 xref: SNOMEDCT:306058006 xref: SNOMEDCT_US:304132006 xref: SNOMEDCT_US:306058006 xref: UMLS:C0002874 is_a: EFO:0004272 ! anemia (phenotype) is_a: HP:0001876 ! Pancytopenia property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0001917 name: Renal amyloidosis def: "A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856)." [https://orcid.org/0000-0002-0736-9199, PMID:25852856] comment: In the kidney, amyloid deposits may be found in any of the parenchymal compartments, including glomeruli, tubules, interstitium and/or vessels. Glomeruli are most commonly involved. In most instances, amyloid accumulation involves the mesangium before the capillary walls. In early cases, the process can be subtle and involves only a few mesangial regions and therefore can easily be missed by routine histologic evaluation. More extensive involvement results in marked expansion of the mesangium, which can take on a nodular appearance and mimic mesangial sclerotic processes such as diabetic glomerulosclerosis. However, the often negative staining with PAS and JMS is more typical of amyloid. xref: SNOMEDCT_US:48713002 xref: UMLS:C0268382 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0001919 name: Acute kidney injury def: "Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia)." [https://orcid.org/0000-0002-0736-9199] comment: Acute renal failure is usually classified into prerenal (response to severe volume depletion), intrinsic (response to acute cytotoxic, ischemic, or inflammatory insults) and postrenal (response to obstruction of the passage of urine) etiologies. synonym: "Acute kidney failure" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Acute renal failure" EXACT [] xref: ICD10:N17 xref: MSH:D058186 xref: NCIt:C26808 xref: SNOMEDCT_US:14350001000004108 xref: SNOMEDCT_US:14669001 xref: UMLS:C0022660 xref: UMLS:C2609414 is_a: HP:0000083 ! Renal insufficiency property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0001928 name: Abnormality of coagulation def: "An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal blood coagulation studies" EXACT [] synonym: "Blood coagulation disorder" RELATED [] synonym: "Coagulation abnormalities" EXACT [] synonym: "Coagulation abnormality" EXACT [] synonym: "Haemorrhagic disorders" EXACT [https://orcid.org/0009-0006-4530-3154] xref: MSH:D001778 xref: MSH:D006474 xref: SNOMEDCT_US:362970003 xref: SNOMEDCT_US:64779008 xref: UMLS:C0005779 xref: UMLS:C0019087 xref: UMLS:C1846821 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues [Term] id: HP:0001933 name: Subcutaneous hemorrhage def: "This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses)." [https://orcid.org/0000-0002-0736-9199] comment: Purpura measure 0.3-1 cm (3-10 mm), whereas petechiae measure less than 3 mm, and ecchymoses greater than 1 cm. synonym: "Bleeding below the skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Subcutaneous haemorrhage" EXACT uk_spelling [] xref: UMLS:C0854107 is_a: HP:0001892 ! Abnormal bleeding is_a: HP:0011276 ! Vascular skin abnormality property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-28T07:14:00Z [Term] id: HP:0001939 name: Abnormality of metabolism/homeostasis alt_id: HP:0002146 alt_id: HP:0004355 alt_id: HP:0004367 synonym: "Laboratory abnormality" EXACT layperson [] synonym: "Metabolism abnormality" EXACT layperson [] xref: ICD10:E87 xref: UMLS:C4021768 is_a: HP:0000118 ! Phenotypic abnormality property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0001942 name: Metabolic acidosis alt_id: HP:0004895 alt_id: HP:0004907 def: "Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause." [https://orcid.org/0000-0002-0736-9199, PMID:17936961, PMID:31418093] comment: The Henderson-Hasselbalch method defines metabolic acidosis by the presence of an acid-base imbalance associated with a plasma bicarbonate concentration below 20 mmol/L. The association of this imbalance with decreased pH is called acidemia, which is often described as severe when the pH is equal to or below 7.20. Arterial blood gas measurements can be performed in patients with a decreased plasma bicarbonate level so as to eliminate respiratory alkalosis, confirm the diagnosis of metabolic acidosis, and test for mixed acidosis. xref: MSH:D000138 xref: SNOMEDCT_US:59455009 xref: UMLS:C0220981 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0001943 name: Hypoglycemia alt_id: HP:0003356 def: "A decreased concentration of glucose in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoglycaemia" EXACT [] synonym: "Low blood sugar" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: DOID:9993 xref: MSH:D007003 xref: NCIt:C3126 xref: OMIM:240800 xref: SNOMEDCT:302866003 xref: SNOMEDCT_US:237630007 xref: SNOMEDCT_US:271327008 xref: SNOMEDCT_US:302866003 xref: UMLS:C0020615 is_a: HP:0011015 ! Abnormal blood glucose concentration property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0001945 name: Fever def: "Body temperature elevated above the normal range." [https://orcid.org/0009-0006-4530-3154, PMID:9759682] comment: Fever has been defined as a state of elevated core temperature, which is often, but not necessarily, part of the defensive responses of multicellular organisms (host) to the invasion of live (microorganisms) or inanimate matter recognized as pathogenic or alien by the host. The febrile response (of which fever is a component) is a complex physiologic reaction to disease, involving a cytokine-mediated rise in core temperature, generation of acute phase reactants, and activation of numerous physiologic, endocrinologic, and immunologic systems. The rise in temperature during fever is to be distinguished from that occurring during episodes of hyperthermia. Unlike fever, hyperthermia involves an unregulated rise in body temperature in which pyrogenic cytokines are not directly involved and against which standard antipyretics are ineffective. It represents a failure of thermoregulatory homeostasis, in which there is uncontrolled heat production, inadequate heat dissipation, or defective hypothalamic thermoregulation. synonym: "Fever" EXACT layperson [] synonym: "Hyperthermia" EXACT [] synonym: "Pyrexia" EXACT [] xref: MSH:D005334 xref: NCIt:C3038 xref: SNOMEDCT:386661006 xref: SNOMEDCT_US:386661006 xref: SNOMEDCT_US:50177009 xref: UMLS:C0015967 xref: UMLS:C0424755 is_a: HP:0004370 ! Abnormality of temperature regulation property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0001948 name: Alkalosis def: "Depletion of acid or accumulation base in the body fluids." [https://orcid.org/0000-0002-0736-9199, PMID:24381489] comment: When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis. xref: MSH:D000471 xref: SNOMEDCT_US:21420006 xref: UMLS:C0002063 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0001952 name: Glucose intolerance alt_id: HP:0000833 def: "Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM)." [PMID:29763085] synonym: "Abnormal glucose tolerance" BROAD [] synonym: "Glucose intolerance" EXACT layperson [] xref: UMLS:C0235401 is_a: HP:0011014 ! Abnormal glucose homeostasis [Term] id: HP:0001956 name: Truncal obesity alt_id: HP:0008885 def: "Obesity located preferentially in the trunk of the body as opposed to the extremities." [https://orcid.org/0000-0002-0736-9199] synonym: "Centripetal obesity" EXACT [] synonym: "Truncal obesity" EXACT layperson [] xref: MSH:D056128 xref: SNOMEDCT_US:248311001 xref: UMLS:C0311277 is_a: EFO:0001073 ! obesity is_a: HP:0004324 ! Increased body weight [Term] id: HP:0001959 name: Polydipsia def: "Excessive thirst manifested by excessive fluid intake." [] synonym: "Extreme thirst" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D059606 xref: SNOMEDCT_US:17173007 xref: SNOMEDCT_US:267026004 xref: UMLS:C0085602 is_a: HP:0030082 ! Abnormal drinking behavior [Term] id: HP:0001962 name: Palpitations alt_id: HP:0001676 def: "A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia." [https://orcid.org/0000-0002-0736-9199] synonym: "Heart palpitations" EXACT [] synonym: "Missed heart beat" EXACT layperson [] synonym: "Palpitations" EXACT layperson [] synonym: "Skipped heart beat" EXACT layperson [] xref: SNOMEDCT_US:80313002 xref: UMLS:C0030252 is_a: HP:0030956 ! Abnormality of cardiovascular system electrophysiology property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0001967 name: Diffuse mesangial sclerosis alt_id: HP:0004728 def: "Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion." [https://orcid.org/0000-0002-0736-9199] comment: This finding can be demonstrated by renal biopsy. synonym: "Diffuse mesangial sclerosis glomerulopathy" EXACT [] synonym: "Mesangial sclerosis" EXACT [] xref: MSH:C537346 xref: SNOMEDCT_US:111406002 xref: UMLS:C0268747 is_a: HP:0011035 ! Abnormal renal cortex morphology [Term] id: HP:0001974 name: Leukocytosis def: "An abnormal increase in the number of leukocytes in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Elevated white blood count" EXACT layperson [] synonym: "High white blood count" EXACT layperson [] synonym: "Increased blood leukocyte number" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D007964 xref: SNOMEDCT_US:111583006 xref: UMLS:C0023518 is_a: HP:0001881 ! Abnormal leukocyte morphology [Term] id: HP:0001976 name: Reduced antithrombin III activity def: "An abnormality of coagulation related to a decreased concentration of antithrombin-III." [https://orcid.org/0000-0002-0736-9199] comment: Antithrombin III (ATIII) inhibits the coagulation cascade by lysing thrombin and factor Xa. The defective inhibition of the coagulation cascade is associated with an increased risk of venous and arterial thrombosis. The physiological target proteases of antithrombin are those of the intrinsic pathway, namely the activated forms of Factor X, Factor IX, Factor XI, Factor XII, and, to a greater extent, Factor II (thrombin), and also the activated form of Factor VII (VIIa) from the the extrinsic pathway. synonym: "Anti-thrombin III deficiency" EXACT [] synonym: "Antithrombin III deficiency" EXACT [] synonym: "Decreased antithrombin III" EXACT [] xref: MSH:D020152 xref: SNOMEDCT_US:36351005 xref: UMLS:C0272375 is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0001977 name: Abnormal thrombosis def: "Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis)." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal blood clot" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Abnormal blood clotting" EXACT [] xref: UMLS:C0040053 xref: UMLS:C4025731 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0001985 name: Hypoketotic hypoglycemia alt_id: HP:0005969 def: "A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies." [https://orcid.org/0000-0002-0736-9199] comment: Normally, decreased glucose production leads to increased mitochondrial fatty acid beta-oxidation and the production of ketones. Thus, ketones provide an indication of whether the hypoglycemia is a result of inadequate production or overutilization of glucose (which tends to be associated with low plasma ketone levels). Hypoketotic hypoglycemia developing within several minutes of feeding is typical of hyperinsulinism. A good starting point for evaluating hypoglycemia is to divide patients into ketotic or non-ketotic. Normal physiologic response to decreased glucose production is increased mitochondrial fatty acid beta-oxidation and the production of ketones. Ketones provide an indirect indication of whether hypoglycemia is the result of inadequate production or of over-utilization of glucose (insulin-induced over-utilization, associated with low urine or plasma ketones). The history of the relationship of the hypoglycemia to feeding is often helpful. Hypoketotic hypoglycemia developing within several minutes of feeding is typical of hyperinsulinism. Patients with defects in glycogen breakdown, gluconeogenesis, or fatty acid oxidation tend to tolerate short-term fasting much better. synonym: "Hypoglycemia, hypoketotic" EXACT [] xref: UMLS:C1856438 is_a: HP:0001943 ! Hypoglycemia [Term] id: HP:0001987 name: Hyperammonemia alt_id: HP:0008308 alt_id: HP:0008334 def: "An increased concentration of ammonia in the blood." [HPO_CONTRIBUTOR:gcarletti] synonym: "High blood ammonia levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D022124 xref: SNOMEDCT_US:9360008 xref: UMLS:C0220994 is_a: HP:0004364 ! Abnormal circulating nitrogen compound concentration [Term] id: HP:0001998 name: Neonatal hypoglycemia synonym: "Low blood sugar in newborn" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:52767006 xref: UMLS:C0158986 is_a: HP:0001943 ! Hypoglycemia [Term] id: HP:0001999 name: Abnormal facial shape alt_id: HP:0002004 alt_id: HP:0002260 alt_id: HP:0004643 alt_id: HP:0004649 alt_id: HP:0004652 alt_id: HP:0004655 alt_id: HP:0004675 alt_id: HP:0005124 def: "An abnormal morphology (form) of the face or its components." [https://orcid.org/0000-0002-9602-2321] comment: This term now covers many of the historical inexact descriptions such as Bird-like facies that probably should be avoided in modern genetics. This portion of the Ontology should be revised. subset: hposlim_core synonym: "Abnormal facial shape" EXACT layperson [] synonym: "Abnormal morphology of the face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of face" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Distinctive facies" EXACT [] synonym: "Distortion of face" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Dysmorphic facial features" EXACT [] synonym: "Dysmorphic facies" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Facial dysmorphism" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Funny looking face" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of face" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Unusual facial appearance" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Unusual facies" EXACT [] xref: SNOMEDCT_US:248200007 xref: SNOMEDCT_US:32003007 xref: SNOMEDCT_US:398206004 xref: SNOMEDCT_US:398302004 xref: UMLS:C0266617 xref: UMLS:C0424503 xref: UMLS:C1385263 xref: UMLS:C4072832 xref: UMLS:C4072833 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0002000 name: Short columella def: "Reduced distance from the anterior border of the naris to the subnasale." [PMID:19152422] comment: This is often accompanied by a Depressed nasal tip but this should be assessed and coded separately. The term Absent columella has been deleted because a columella is thought to always be present, except in Single naris and Proboscis. subset: hposlim_core synonym: "Columella, short" EXACT [] synonym: "Decreased length of columella" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of columella" RELATED [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1857479 xref: UMLS:C4280585 is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0002002 name: Deep philtrum alt_id: HP:0000305 alt_id: HP:0004654 def: "Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border." [PMID:19152422] comment: Some have used the term depressed philtrum, suggesting the presence of normal philtral ridges with a deeper groove, while admitting the difficulty in distinguishing this from prominent ridges with a normal philtral groove. We are unaware of a truly deepened philtral groove with normal height of the ridges. subset: hposlim_core synonym: "Depressed philtrum" RELATED [] synonym: "Increased depth of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Philtrum, deep" EXACT [] synonym: "Prominent philtrum" EXACT [] synonym: "Pronounced philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1839797 xref: UMLS:C4020861 is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0002007 name: Frontal bossing alt_id: HP:0000254 alt_id: HP:0000333 alt_id: HP:0001358 alt_id: HP:0001359 def: "Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline." [PMID:19125436] comment: This is not the same as prominent forehead. subset: hposlim_core synonym: "Frontal protruberance" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Skull bossing" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:90145001 xref: UMLS:C0221354 is_a: HP:0000271 ! Abnormality of the face is_a: HP:0000929 ! Abnormal skull morphology [Term] id: HP:0002011 name: Morphological central nervous system abnormality alt_id: HP:0002405 alt_id: HP:0002413 alt_id: HP:0002481 alt_id: HP:0007319 def: "A structural abnormality of the central nervous system." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the central nervous system" EXACT [] synonym: "Central nervous system disease" RELATED [] synonym: "Morphological abnormality of the central nervous system" EXACT [] synonym: "Morphological abnormality of the CNS" EXACT abbreviation [] xref: MSH:D002493 xref: SNOMEDCT_US:23853001 xref: UMLS:C0007682 xref: UMLS:C4021765 is_a: HP:0000707 ! Abnormality of the nervous system [Term] id: HP:0002012 name: Abnormality of the abdominal organs def: "An abnormality of the viscera of the abdomen." [https://orcid.org/0000-0002-0736-9199] comment: The abdominal organs comprise the stomach, small and large intestines, liver, pancreas, bile tract, and spleen. synonym: "Abnormality of the abdominal organs" EXACT layperson [] synonym: "Gastrointestinal tract defects" EXACT [] xref: UMLS:C4021764 is_a: HP:0025031 ! Abnormality of the digestive system property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002013 name: Vomiting def: "Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Emesis" EXACT [] synonym: "Throwing up" EXACT layperson [] synonym: "Vomiting" EXACT layperson [] xref: MEDDRA:10047700 "Vomiting" xref: MSH:D014839 xref: SNOMEDCT_US:249497008 xref: SNOMEDCT_US:300359004 xref: SNOMEDCT_US:422400008 xref: UMLS:C0042963 is_a: HP:0002017 ! Nausea and vomiting property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002014 name: Diarrhea def: "Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day." [https://orcid.org/0000-0002-0736-9199] synonym: "Diarrhea" EXACT layperson [] synonym: "Diarrhoea" EXACT uk_spelling [] synonym: "Watery stool" EXACT layperson [] xref: DOID:13250 xref: ICD9:787.91 xref: MSH:D003967 xref: NCIt:C2987 xref: OMIM:615863 xref: SNOMEDCT:62315008 xref: SNOMEDCT_US:267060006 xref: SNOMEDCT_US:62315008 xref: UMLS:C0011991 xref: UMLS:C1963091 is_a: HP:0011458 ! Abdominal symptom property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002015 name: Dysphagia alt_id: HP:0002569 def: "Difficulty in swallowing." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Deglutition disorder" RELATED [] synonym: "Difficulty swallowing" EXACT [] synonym: "Poor swallowing" EXACT layperson [] synonym: "Swallowing difficulties" EXACT layperson [] synonym: "Swallowing difficulty" EXACT layperson [] xref: ICD10:R13 xref: MEDDRA:10013950 "Dysphagia" xref: MedDRA:10013950 xref: MSH:D003680 xref: SNOMEDCT:288939007 xref: SNOMEDCT_US:288939007 xref: SNOMEDCT_US:40739000 xref: UMLS:C0011168 is_a: HP:0012638 ! Abnormal nervous system physiology is_a: HP:0025270 ! Abnormal esophagus physiology property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002017 name: Nausea and vomiting def: "Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea." [PMID:26770271] synonym: "Nausea and vomiting" EXACT layperson [] xref: ICD10:R11 xref: SNOMEDCT_US:16932000 xref: UMLS:C0027498 is_a: HP:0011458 ! Abdominal symptom property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002018 name: Nausea def: "A sensation of unease in the stomach together with an urge to vomit." [https://orcid.org/0000-0002-0736-9199, PMID:26770271] subset: hposlim_core synonym: "Nausea" EXACT layperson [] xref: MEDDRA:10028813 "Nausea" xref: MSH:D009325 xref: SNOMEDCT_US:422587007 xref: UMLS:C0027497 is_a: HP:0002017 ! Nausea and vomiting property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002019 name: Constipation alt_id: HP:0002241 alt_id: HP:0003786 def: "Infrequent or difficult evacuation of feces." [https://orcid.org/0000-0002-0736-9199] synonym: "Constipation" EXACT layperson [] synonym: "Costiveness" EXACT [] synonym: "Dyschezia" EXACT [] xref: MSH:D003248 xref: SNOMEDCT_US:14760008 xref: SNOMEDCT_US:225595004 xref: UMLS:C0009806 xref: UMLS:C0237326 is_a: HP:0011458 ! Abdominal symptom property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002024 name: Malabsorption alt_id: HP:0008270 def: "Impaired ability to absorb one or more nutrients from the intestine." [https://orcid.org/0000-0002-0736-9199] synonym: "Intestinal malabsorption" EXACT layperson [] synonym: "Malabsorption" EXACT layperson [] xref: UMLS:C3714745 is_a: HP:0002242 ! Abnormal intestine morphology [Term] id: HP:0002027 name: Abdominal pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen." [https://orcid.org/0000-0002-0736-9199] comment: Abdominal pain can be crampy, achy, dull, intermittent or sharp. The terms stomach ache and stomach cramps are nonmedical terms often used to describe pain in the mid- or upper abdominal area, even though it is not the case that the (smooth) muscles of the stomach or the abdomen have cramps. Stomach pain is another layperson term commonly used to refer to abdominal pain. subset: hposlim_core synonym: "Abdominal discomfort" RELATED layperson [] synonym: "Abdominal pain" EXACT layperson [] synonym: "Gastro pain" BROAD layperson [] synonym: "Gastrointestinal pain" BROAD layperson [] synonym: "Pain in stomach" EXACT layperson [] synonym: "Stomach pain" EXACT layperson [https://orcid.org/0000-0002-0736-9199] synonym: "Upset stomach" RELATED layperson [https://orcid.org/0000-0001-6439-2224] xref: ICD9:789.0 xref: MEDDRA:10000081 "Abdominal pain" xref: MSH:D015746 xref: NCIt:C26682 xref: SNOMEDCT:21522001 xref: SNOMEDCT_US:21522001 xref: UMLS:C0000737 is_a: EFO:0003843 ! pain is_a: HP:0011458 ! Abdominal symptom is_a: HP:0025142 ! Constitutional symptom property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002028 name: Chronic diarrhea def: "The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks." [https://orcid.org/0000-0002-0736-9199] synonym: "Chronic diarrhea" EXACT layperson [] synonym: "Chronic diarrhoea" EXACT uk_spelling [] synonym: "Diarrhea, recurrent" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Recurrent diarrhea" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Recurrent diarrhoea" RELATED uk_spelling [] xref: SNOMEDCT_US:236071009 xref: UMLS:C0401151 is_a: HP:0002014 ! Diarrhea [Term] id: HP:0002031 name: Abnormal esophagus morphology def: "A structural abnormality of the esophagus." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal oesophagus morphology" EXACT uk_spelling [] synonym: "Abnormality of esophagus structure" EXACT layperson [] synonym: "Abnormality of oesophagus structure" EXACT uk_spelling [] synonym: "Anomaly of the esophagus" EXACT [] synonym: "Anomaly of the oesophagus" EXACT uk_spelling [] xref: SNOMEDCT_US:69771008 xref: UMLS:C0266126 is_a: HP:0012718 ! Abnormal gastrointestinal tract morphology [Term] id: HP:0002032 name: Esophageal atresia def: "A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach." [https://orcid.org/0000-0002-0736-9199] synonym: "Birth defect in which part of esophagus did not develop" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Birth defect in which part of oesophagus did not develop" EXACT uk_spelling [] synonym: "EA" EXACT [] xref: Fyler:4412 xref: MSH:D004933 xref: SNOMEDCT_US:26179002 xref: UMLS:C0014850 is_a: HP:0002031 ! Abnormal esophagus morphology [Term] id: HP:0002033 name: Poor suck def: "An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed." [https://orcid.org/0000-0002-0736-9199] synonym: "Poor suck" EXACT layperson [] synonym: "Poor sucking" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Sucking weakness" EXACT [] xref: UMLS:C1837142 is_a: HP:0008872 ! Feeding difficulties in infancy [Term] id: HP:0002034 name: Abnormal rectum morphology def: "An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the rectum" EXACT layperson [] synonym: "Anomaly of the rectum" EXACT layperson [] xref: SNOMEDCT_US:86993003 xref: UMLS:C0266210 is_a: HP:0002250 ! Abnormal large intestine morphology [Term] id: HP:0002035 name: Rectal prolapse def: "Protrusion of the rectal mucous membrane through the anus." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Rectal prolapsed" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Rectum protrudes through anus" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: DOID:9307 xref: ICD9:569.1 xref: MedDRA:10038077 xref: MEDDRA:10038077 "Rectal prolapse" xref: MSH:D012005 xref: NCIt:C34973 xref: SNOMEDCT:57773001 xref: SNOMEDCT_US:57773001 xref: UMLS:C0034888 xref: UMLS:C1868686 is_a: HP:0002034 ! Abnormal rectum morphology property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002036 name: Hiatus hernia def: "The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus." [https://orcid.org/0000-0002-0736-9199] comment: A tendency for the upper part of the stomach to herniate into the thorax because of a weakness of the esophageal hiatus, which is the hole in the diaphragm through which the esophagus passes. Hiatus hernia can be asymptomatic or can lead to acid reflux symptoms (heartburn). subset: hposlim_core synonym: "Hiatal hernia" EXACT [] synonym: "Stomach hernia" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MEDDRA:10020028 "Hiatus hernia" xref: MSH:D006551 xref: SNOMEDCT_US:84089009 xref: UMLS:C3489393 is_a: HP:0012718 ! Abnormal gastrointestinal tract morphology is_a: HP:0100790 ! Hernia property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-20T11:28:00Z [Term] id: HP:0002037 name: Inflammation of the large intestine def: "Inflammation, or an inflammatory state in the large intestine." [] synonym: "Inflammation of the large intestine" EXACT layperson [] synonym: "Inflammatory bowel disease" RELATED layperson [] xref: MSH:D015212 xref: SNOMEDCT_US:24526004 xref: SNOMEDCT_US:302168000 xref: UMLS:C0021390 xref: UMLS:C0578878 is_a: HP:0002250 ! Abnormal large intestine morphology is_a: HP:0004386 ! Gastrointestinal inflammation [Term] id: HP:0002039 name: Anorexia def: "Anorexia, or the loss of appetite for food, is a medical condition." [] comment: Please note that this term does not refer to the condition of anorexia nervosa, which is a disorder characterized by an obsessive desire to lose weight by refusing to eat. synonym: "Anorexia" EXACT layperson [] synonym: "Deliberately not eating" EXACT [] synonym: "Obsessive dieting" EXACT [] synonym: "Refusing to eat" EXACT [] xref: MSH:D000855 xref: SNOMEDCT_US:79890006 xref: UMLS:C0003123 is_a: HP:0000708 ! Atypical behavior is_a: HP:0011458 ! Abdominal symptom property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-6624-2975 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-2984-1124 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4691-7362 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-6581-7754 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7674-1767 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2598-6622 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4014-4490 [Term] id: HP:0002043 name: Esophageal stricture def: "A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen." [https://orcid.org/0000-0002-0736-9199] comment: Gastroesophageal reflux is a common cause of esophageal stricture. synonym: "Narrowing of esophagus due to inflammation and scar tissue" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Narrowing of oesophagus due to inflammation and scar tissue" EXACT uk_spelling [] xref: MSH:D004940 xref: NCIt:C34595 xref: SNOMEDCT_US:63305008 xref: UMLS:C0014866 is_a: EFO:0006818 ! stricture is_a: EFO:0009544 ! esophageal disease is_a: HP:0010450 ! Esophageal stenosis [Term] id: HP:0002045 name: Hypothermia def: "Reduced body temperature due to failed thermoregulation." [https://orcid.org/0009-0006-4530-3154] comment: A condition in which core temperature drops below that required for normal metabolism and body functions which is defined as 35.0 degrees C (95.0 degrees F). synonym: "Abnormally low body temperature" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hypothermia" EXACT layperson [] xref: MSH:D007035 xref: SNOMEDCT_US:386689009 xref: UMLS:C0020672 is_a: HP:0004370 ! Abnormality of temperature regulation [Term] id: HP:0002059 name: Cerebral atrophy alt_id: HP:0002422 alt_id: HP:0006890 def: "Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum." [https://orcid.org/0009-0006-4530-3154] comment: Atrophy may be progressive over time. synonym: "Degeneration of cerebrum" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Supratentorial atrophy" RELATED [] xref: SNOMEDCT_US:278849000 xref: SNOMEDCT_US:418143002 xref: SNOMEDCT_US:52522001 xref: UMLS:C0154671 xref: UMLS:C0235946 xref: UMLS:C4020860 is_a: HP:0012444 ! Brain atrophy [Term] id: HP:0002061 name: Lower limb spasticity def: "Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis" [HPO_CONTRIBUTOR:UKT_rschuele, https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:394679006 xref: UMLS:C1271100 is_a: HP:0001257 ! Spasticity [Term] id: HP:0002063 name: Rigidity def: "Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity." [https://orcid.org/0000-0002-0736-9199] comment: Rigidity is often a manifestation of basal ganglia diseases. synonym: "Muscle rigidity" EXACT layperson [] synonym: "Rigidity" EXACT layperson [] xref: MSH:D009127 xref: SNOMEDCT_US:16046003 xref: UMLS:C0026837 is_a: HP:0001276 ! Hypertonia [Term] id: HP:0002066 name: Gait ataxia alt_id: HP:0002379 def: "A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall." [HPO_CONTRIBUTOR:UKT_rschuele, https://orcid.org/0000-0002-0736-9199] synonym: "Ataxia of gait" EXACT [] synonym: "Ataxic gait" EXACT [] synonym: "Inability to coordinate movements when walking" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D020234 xref: SNOMEDCT_US:25136009 xref: UMLS:C0751837 is_a: HP:0001251 ! Ataxia is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002068 name: Neuromuscular dysphagia xref: UMLS:C4025729 is_a: HP:0002015 ! Dysphagia [Term] id: HP:0002069 name: Bilateral tonic-clonic seizure alt_id: HP:0001306 alt_id: HP:0002407 alt_id: HP:0007252 def: "A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase." [https://orcid.org/0000-0002-0736-9199, PMID:28276060] comment: A tonic-clonic seizure may be generalised from onset or progress from a focal seizure to a bilateral tonic clonic seizure. This term describes the observed semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding bilateral tonic-clonic seizures when the onset is not known. This form of seizure was formerly commonly called grand mal seizure. synonym: "Bilateral convulsive seizures" EXACT [] synonym: "Generalised convulsion" EXACT uk_spelling [] synonym: "Generalised tonic-clonic seizure (without specification of onset)" EXACT [] synonym: "Generalized convulsion" EXACT [] synonym: "Generalized tonic-clonic seizure (without specification of onset)" EXACT [] synonym: "Grand mal" EXACT [] synonym: "Grand mal seizures" EXACT layperson [] synonym: "Seizures, tonic-clonic" EXACT [] synonym: "Tonic-clonic convulsion" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Tonic-clonic convulsions" EXACT plural_form [https://orcid.org/0000-0002-5316-1399] xref: MSH:D012640 xref: SNOMEDCT_US:54200006 xref: UMLS:C0494475 is_a: HP:0001250 ! Seizure [Term] id: HP:0002075 name: Dysdiadochokinesis alt_id: HP:0002426 def: "A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible." [HPO_CONTRIBUTOR:UKB_tklockgether, HPO_CONTRIBUTOR:zaferyueksel, https://orcid.org/0000-0002-0736-9199] comment: Inability to perform rapid, alternating movements. Dysdiadochokinesis is generally related to a cerebellar lesion. synonym: "Difficulty performing quick and alternating movements" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Dysdiadochokinesia" EXACT [] xref: SNOMEDCT_US:23133003 xref: UMLS:C0234979 is_a: HP:0001251 ! Ataxia [Term] id: HP:0002079 name: Hypoplasia of the corpus callosum alt_id: HP:0002319 alt_id: HP:0007026 def: "Underdevelopment of the corpus callosum." [https://orcid.org/0000-0002-0736-9199, PMID:21263138] comment: The corpus callosum appears thin in midline views of the brain in neuroradiological images. synonym: "Corpus callosum hypoplasia" EXACT [] synonym: "Hypoplasia of corpus callosum" EXACT [] synonym: "Hypoplastic corpus callosum" EXACT [] synonym: "Underdevelopment of part of brain called corpus callosum" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:204043002 xref: UMLS:C0344482 is_a: HP:0007370 ! Aplasia/Hypoplasia of the corpus callosum [Term] id: HP:0002080 name: Intention tremor def: "A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger)." [https://orcid.org/0000-0002-0736-9199, PMID:16344298] synonym: "Cerebellar tremor" RELATED [] synonym: "Terminal tremor" RELATED [] xref: MSH:D014202 xref: SNOMEDCT_US:30721006 xref: UMLS:C0234376 xref: UMLS:C4020856 is_a: HP:0001337 ! Tremor [Term] id: HP:0002086 name: Abnormality of the respiratory system def: "An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles." [https://orcid.org/0000-0002-0736-9199] synonym: "Respiratory abnormality" EXACT [] xref: ICD10:R09 xref: ICD10:R84 xref: UMLS:C1260922 xref: UMLS:C4018871 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0002088 name: Abnormal lung morphology def: "Any structural anomaly of the lung." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of lung structure" EXACT layperson [] synonym: "Abnormality of the lungs" EXACT layperson [] synonym: "Abnormally shaped lung" EXACT layperson [] synonym: "Lung disease" RELATED layperson [] synonym: "Unusal lung shape" EXACT layperson [] xref: ICD10:Q33 xref: ICD10:R91 xref: MSH:D008171 xref: SNOMEDCT_US:19829001 xref: UMLS:C0024115 xref: UMLS:C4021760 is_a: HP:0002086 ! Abnormality of the respiratory system property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002089 name: Pulmonary hypoplasia synonym: "Hypoplastic lung" EXACT [] synonym: "Hypoplastic lungs" EXACT [] synonym: "Lung hypoplasia" EXACT [] synonym: "Poorly developed lungs" EXACT layperson [] synonym: "Small lung" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Underdeveloped lung" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:80825009 xref: UMLS:C0265783 is_a: HP:0002088 ! Abnormal lung morphology [Term] id: HP:0002091 name: Restrictive ventilatory defect alt_id: HP:0002111 def: "A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus." [https://orcid.org/0000-0003-4546-6667, PMID:28194273] comment: The most commonly used term for this feature is restrictive lung disease, but we choose the term Restrictive ventilatory defect to emphasize that this term refers to a phenotypic feature rather than a disease entity. synonym: "Restrictive deficit on pulmonary function testing" EXACT [] synonym: "Restrictive deficit on pulmonary function tests" EXACT [] synonym: "Restrictive lung disease" RELATED [https://orcid.org/0000-0001-5208-3432] synonym: "Restrictive respiratory disease" EXACT [] synonym: "Restrictive respiratory insufficiency" EXACT [] synonym: "Restrictive respiratory syndrome" EXACT [] synonym: "Spirometric restriction" EXACT [] synonym: "Stiff lung or chest wall causing decreased lung volume" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:36485005 xref: UMLS:C0085581 xref: UMLS:C3277226 is_a: HP:0030878 ! Abnormality on pulmonary function testing [Term] id: HP:0002093 name: Respiratory insufficiency alt_id: HP:0004893 alt_id: HP:0005937 alt_id: HP:0006542 synonym: "Respiratory function loss" RELATED layperson [] synonym: "Respiratory impairment" EXACT layperson [] xref: MSH:D012131 xref: SNOMEDCT_US:409623005 xref: UMLS:C0035229 xref: UMLS:C4020855 is_a: HP:0002086 ! Abnormality of the respiratory system property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002094 name: Dyspnea def: "Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale." [https://orcid.org/0000-0002-0736-9199, PMID:16914301] synonym: "Abnormal breathing" EXACT [] synonym: "Breathing difficulty" EXACT layperson [] synonym: "Difficult to breathe" EXACT layperson [] synonym: "Difficulty breathing" EXACT layperson [] synonym: "Dyspnoea" EXACT uk_spelling [] synonym: "Panting" RELATED layperson [] synonym: "Shortness of breath" EXACT layperson [] synonym: "Trouble breathing" EXACT layperson [] xref: MSH:D004417 xref: SNOMEDCT_US:230145002 xref: SNOMEDCT_US:267036007 xref: UMLS:C0013404 is_a: HP:0002793 ! Abnormal pattern of respiration property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002104 name: Apnea alt_id: HP:0005936 alt_id: HP:0005958 def: "Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event." [https://orcid.org/0000-0002-0736-9199] synonym: "Absence of spontaneous respiration" EXACT [] synonym: "Apneic episodes" EXACT [] synonym: "Apnoea" EXACT [] xref: MSH:D001049 xref: SNOMEDCT_US:1023001 xref: SNOMEDCT_US:248583008 xref: UMLS:C0003578 is_a: HP:0002793 ! Abnormal pattern of respiration [Term] id: HP:0002105 name: Hemoptysis def: "Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs." [https://orcid.org/0000-0002-0736-9199] synonym: "Coughing up blood" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Coughing up blood or blood-stained mucus" RELATED layperson [] synonym: "Haemoptysis" EXACT uk_spelling [] xref: MSH:D006469 xref: SNOMEDCT_US:66857006 xref: SNOMEDCT_US:6686005 xref: UMLS:C0019079 is_a: HP:0032016 ! Abnormal sputum property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002107 name: Pneumothorax def: "Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung." [https://orcid.org/0000-0002-0736-9199] synonym: "Collapsed lung" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D011030 xref: SNOMEDCT_US:36118008 xref: UMLS:C0032326 is_a: HP:0002088 ! Abnormal lung morphology [Term] id: HP:0002108 name: Spontaneous pneumothorax def: "Pneumothorax occurring without traumatic injury to the chest or lung." [https://orcid.org/0000-0002-0736-9199] synonym: "Spontaneous collapsed lung" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: ICD10:J93 xref: MSH:D011030 xref: SNOMEDCT_US:80423007 xref: UMLS:C0149781 is_a: HP:0002107 ! Pneumothorax property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002109 name: obsolete Abnormality of the bronchi is_obsolete: true replaced_by: HP:0025426 [Term] id: HP:0002110 name: Bronchiectasis def: "Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways." [https://orcid.org/0000-0002-0736-9199] synonym: "Permanent enlargement of the airways of the lungs" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: DOID:9563 xref: ICD10:J47 xref: ICD9:494 xref: MSH:D001987 xref: NCIt:C84475 xref: OMIM:211400 xref: OMIM:613021 xref: OMIM:613071 xref: SNOMEDCT:12295008 xref: SNOMEDCT_US:12295008 xref: UMLS:C0006267 is_a: HP:0002086 ! Abnormality of the respiratory system [Term] id: HP:0002119 name: Ventriculomegaly alt_id: HP:0002447 alt_id: HP:0005691 alt_id: HP:0007071 def: "An increase in size of the ventricular system of the brain." [https://orcid.org/0000-0002-0736-9199] synonym: "Cerebral ventricular dilatation" EXACT [] synonym: "Dilated cerebral ventricle" EXACT [] synonym: "Dilated cerebral ventricles" EXACT [] synonym: "Dilated ventricles" EXACT [] synonym: "Enlarged cerebral ventricles" EXACT [] synonym: "Enlarged ventricles" EXACT [] synonym: "Enlarged ventricular system" EXACT [] synonym: "Large cerebral ventricles and cisternae" EXACT [] synonym: "Ventricular dilatation" EXACT [] xref: UMLS:C3278923 is_a: HP:0012443 ! Abnormal brain morphology [Term] id: HP:0002120 name: Cerebral cortical atrophy alt_id: HP:0006823 alt_id: HP:0006835 def: "Atrophy of the cortex of the cerebrum." [https://orcid.org/0000-0002-0736-9199] comment: Cortical atrophy is a finding that can be demonstrated by computer tomography or magnetic resonance imaging. synonym: "Cerebral cortex atrophy" EXACT [] synonym: "Cortical atrophy" EXACT [] synonym: "Decrease in size of the outer layer of the brain due to loss of brain cells" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:278849000 xref: UMLS:C0235946 is_a: HP:0002059 ! Cerebral atrophy [Term] id: HP:0002121 name: Generalized non-motor (absence) seizure alt_id: HP:0007143 alt_id: HP:0011148 def: "A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features." [https://orcid.org/0000-0002-0736-9199, PMID:28276060, PMID:28276062, PMID:28276064] comment: in 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (over 80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination; see Dialeptic seizure. synonym: "Absence seizure" EXACT [] synonym: "Absence seizures" EXACT plural_form [] synonym: "Brief seizures with staring spells" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Generalised non-motor (absence) seizure" EXACT uk_spelling [] synonym: "Generalised non-motor seizure" EXACT uk_spelling [] synonym: "Petit mal" EXACT [] synonym: "Petit mal seizure" EXACT [] synonym: "Petit mal seizures" EXACT plural_form [] xref: MSH:D004832 xref: SNOMEDCT_US:230413002 xref: SNOMEDCT_US:432241000124101 xref: SNOMEDCT_US:50866000 xref: SNOMEDCT_US:79631006 xref: UMLS:C0014553 is_a: HP:0001250 ! Seizure [Term] id: HP:0002123 name: Generalized myoclonic seizure alt_id: HP:0006869 alt_id: HP:0006902 alt_id: HP:0007075 alt_id: HP:0007202 alt_id: HP:0007284 alt_id: HP:0007294 def: "A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus." [HPO_CONTRIBUTOR:jalbers, PMID:28276060, PMID:28276064] synonym: "Generalised epileptic myoclonus" EXACT [] synonym: "Generalised myoclonic seizure" EXACT [] synonym: "Generalised myoclonic seizures" EXACT uk_spelling [] synonym: "Generalized epileptic myoclonus" EXACT [] synonym: "Generalized myoclonic seizures" EXACT plural_form [] synonym: "Myoclonic epilepsy, progressive" RELATED [] synonym: "Myoclonus seizures" EXACT [] xref: MSH:D004831 xref: MSH:D020191 xref: SNOMEDCT_US:192992007 xref: SNOMEDCT_US:267581004 xref: SNOMEDCT_US:37356005 xref: UMLS:C0014550 xref: UMLS:C0751778 xref: UMLS:C4021759 is_a: HP:0001250 ! Seizure [Term] id: HP:0002127 name: Abnormal upper motor neuron morphology def: "Any structural anomaly that affects the upper motor neuron." [] comment: previous def: 'has part' some (quality and ('inheres in' some 'Upper motor neuron (adult human)') and ('has modifier' some abnormal)) synonym: "Abnormal shape of upper motor neuron" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025723 is_a: HP:0000707 ! Abnormality of the nervous system [Term] id: HP:0002134 name: Abnormal basal ganglia morphology alt_id: HP:0006952 alt_id: HP:0007257 def: "Abnormality of the basal ganglia." [https://orcid.org/0000-0002-0736-9199] comment: The basal ganglia are a group of nuclei (striatum, pallidum substantia nigra, and the subthalamic nucleus) at the base of the forebrain that are connected to the cerebral cortex, the thalamus, and other areas. The basal ganglia subserve motor functions that are distinct from those of the pyramidal (corticospinal) tract, for which reason neurologic abnormalities caused by lesions to the basal ganglia are often referred to as extrapyramidal. synonym: "Abnormality of the basal ganglia" EXACT [] synonym: "Anomaly of the basal ganglia" EXACT [] synonym: "Basal ganglia disease" EXACT [] xref: MSH:D001480 xref: SNOMEDCT_US:70835005 xref: UMLS:C0004782 is_a: HP:0012443 ! Abnormal brain morphology [Term] id: HP:0002135 name: Basal ganglia calcification alt_id: HP:0002485 def: "The presence of calcium deposition affecting one or more structures of the basal ganglia." [https://orcid.org/0000-0002-0736-9199] synonym: "Basal ganglia calcifications" EXACT [] synonym: "Basal ganglion calcification" EXACT [] synonym: "Calcification of the basal ganglia" EXACT [] xref: UMLS:C1389280 is_a: HP:0002134 ! Abnormal basal ganglia morphology is_a: HP:0002514 ! Cerebral calcification [Term] id: HP:0002136 name: Broad-based gait def: "An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad based gait" EXACT [] synonym: "Wide based gait" EXACT [] synonym: "Wide based walk" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Wide-based gait" EXACT [] xref: UMLS:C0856863 is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002140 name: Ischemic stroke def: "Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured." [PMID:32054610] synonym: "Ischaemic stroke" EXACT uk_spelling [] xref: SNOMEDCT_US:422504002 xref: UMLS:C0948008 is_a: HP:0002637 ! Cerebral ischemia is_a: HP:0100659 ! Abnormal cerebral vascular morphology property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002141 name: Gait imbalance alt_id: HP:0100683 synonym: "Abnormality of balance" EXACT layperson [] synonym: "Abnormality of equilibrium" EXACT layperson [] synonym: "Imbalanced walk" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1836150 is_a: HP:0001288 ! Gait disturbance property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002144 name: Tethered cord def: "During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord." [https://orcid.org/0000-0002-0736-9199] synonym: "Occult spinal dysraphism" EXACT [https://orcid.org/0000-0001-5208-3432] xref: MSH:D009436 xref: SNOMEDCT_US:70534000 xref: UMLS:C0080218 is_a: HP:0002011 ! Morphological central nervous system abnormality [Term] id: HP:0002148 name: Hypophosphatemia def: "An abnormally decreased phosphate concentration in the blood." [HPO_CONTRIBUTOR:gcarletti] synonym: "Hypophosphataemia" EXACT [] synonym: "Low blood phosphate level" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: DOID:0050336 xref: MeSH:D017674 xref: MSH:D017674 xref: SNOMEDCT_US:4996001 xref: UMLS:C0085682 is_a: HP:0100529 ! Abnormal blood phosphate concentration [Term] id: HP:0002153 name: Hyperkalemia def: "An abnormally increased potassium concentration in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Elevated serum potassium levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D006947 xref: SNOMEDCT_US:14140009 xref: SNOMEDCT_US:166689004 xref: SNOMEDCT_US:238142003 xref: UMLS:C0020461 is_a: HP:0003111 ! Abnormal blood ion concentration property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002162 name: Low posterior hairline def: "Hair on the neck extends more inferiorly than usual." [PMID:19125436] comment: This feature is often seen in later childhood, as the neck lengthens, in an individual who was born with redundant nuchal skin, which should be assessed and coded separately. subset: hposlim_core synonym: "Low hairline at back of neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Low posterior hair line" EXACT [] xref: UMLS:C1855728 is_a: HP:0000234 ! Abnormality of the head is_a: HP:0000464 ! Abnormality of the neck is_a: HP:0010720 ! Abnormal hair pattern [Term] id: HP:0002164 name: Nail dysplasia alt_id: HP:0001793 alt_id: HP:0001794 alt_id: HP:0001797 alt_id: HP:0008387 alt_id: HP:0008403 alt_id: HP:0008409 alt_id: HP:0008412 def: "The presence of developmental dysplasia of the nail." [https://orcid.org/0000-0002-0736-9199] synonym: "Atypical nail growth" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Dysplastic nails" EXACT [] synonym: "Onychodysplasia" EXACT [] xref: UMLS:C1834405 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0002165 name: Pterygium of nails def: "Inward advance of skin over the nail plate." [https://orcid.org/0000-0002-0736-9199] synonym: "Nail pterygium" EXACT [] xref: SNOMEDCT_US:110987009 xref: UMLS:C0406438 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0002166 name: Impaired vibration sensation in the lower limbs def: "A decrease in the ability to perceive vibration in the legs." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased lower limb vibratory sense" EXACT layperson [] synonym: "Decreased vibratory sense in lower limbs" EXACT layperson [] synonym: "Decreased vibratory sense in the lower extremities" EXACT layperson [] synonym: "Decreased vibratory sense in the lower limbs" EXACT layperson [] synonym: "Diminished vibratory sensation in the legs" EXACT layperson [] synonym: "Distal sensory loss, especially vibratory sense" EXACT [] synonym: "Distal vibratory impairment of the lower limbs" EXACT [] synonym: "Impaired vibration sensation in the lower limbs" EXACT layperson [] xref: UMLS:C1849134 is_a: HP:0003474 ! Somatic sensory dysfunction [Term] id: HP:0002167 name: Abnormality of speech or vocalization def: "Abnormalities in the sound of a person's speech or vocalization are not necessarily associated with a known physical cause or due to stuttering or stammering." [] synonym: "Abnormal speech" EXACT [] synonym: "Abnormal vocalisation" EXACT uk_spelling [] synonym: "Abnormal vocalization" EXACT [] xref: MSH:D013064 xref: UMLS:C0037822 is_a: HP:0011446 ! Abnormality of mental function property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-2592-4715 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-9593-5508 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389 [Term] id: HP:0002169 name: Clonus def: "A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch." [https://orcid.org/0000-0002-0736-9199] comment: Clonus is a manifestation of spasticity that can occur with lesions of the corticospinal tract. Only sustained clonus (5 beats or more) is considered abnormal. synonym: "Involuntary rhythmic muscular contractions and relaxations" EXACT [http://purl.obolibrary.org/obo/hp#layperson, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:36649002 xref: UMLS:C0009024 is_a: HP:0001347 ! Hyperreflexia is_a: HP:0011442 ! Abnormal central motor function [Term] id: HP:0002171 name: Gliosis def: "Gliosis is the focal proliferation of glial cells in the central nervous system." [https://orcid.org/0009-0006-4530-3154] comment: Gliosis generally occurs as a response to tissue damage. Gliosis appears bright on T2 scans upon magnetic resonance imaging, unlike encephalomalacia which follows CSF signal on all sequences. Glial cells, the non-neuronal component of the central nervous system, are divided into microglia and macroglia. The latter are in turn divided into astrocytes, oligodendrocytes, and ependymal cells. The astrocytes and the microglia are the glial cells predominantly responsible for tissue response to injury. synonym: "Cerebral gliosis" EXACT [] synonym: "Excess astrocytes in brain" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D005911 xref: SNOMEDCT_US:359580009 xref: SNOMEDCT_US:81415000 xref: UMLS:C0017639 is_a: HP:0002011 ! Morphological central nervous system abnormality [Term] id: HP:0002172 name: Postural instability def: "A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps." [PMID:25613349] synonym: "Abnormal retropulsion test" RELATED [] synonym: "Balance impairment" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Imbalance" RELATED [] xref: UMLS:C1843921 is_a: HP:0100022 ! Abnormality of movement property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002180 name: Neurodegeneration def: "Progressive loss of neural cells and tissue." [https://orcid.org/0000-0002-0736-9199] synonym: "Neuro-degenerative disease" RELATED [] synonym: "Neurodegenerative disease" RELATED [] synonym: "Ongoing loss of nerve cells" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Progressive neurodegenerative disorder" RELATED [] xref: MSH:D009410 xref: MSH:D019636 xref: UMLS:C0027746 xref: UMLS:C0524851 xref: UMLS:C4020854 is_a: GO:0008150 ! biological_process is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system [Term] id: HP:0002194 name: Delayed gross motor development alt_id: HP:0006905 alt_id: HP:0007046 alt_id: HP:0008973 def: "A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling." [https://orcid.org/0000-0002-0736-9199] synonym: "Delayed gross motor skills" EXACT [] synonym: "Delayed motor skills" EXACT layperson [] synonym: "Developmental delay, gross motor" EXACT [] synonym: "Gross motor delay" EXACT [] synonym: "Limited gross motor development" EXACT [] xref: SNOMEDCT_US:430099007 xref: UMLS:C1837658 is_a: HP:0001270 ! Motor delay [Term] id: HP:0002196 name: Myelopathy xref: MSH:D013118 xref: SNOMEDCT_US:48522003 xref: UMLS:C0037928 is_a: HP:0002011 ! Morphological central nervous system abnormality property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002205 name: Recurrent respiratory infections alt_id: HP:0002782 alt_id: HP:0002873 def: "An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections." [https://orcid.org/0000-0002-0736-9199] synonym: "Frequent respiratory infections" EXACT layperson [] synonym: "Multiple respiratory infections" EXACT layperson [] synonym: "Recurrent respiratory infections" EXACT layperson [] synonym: "respiratory infections, recurrent" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Susceptibility to respiratory infections" EXACT layperson [] xref: UMLS:C3806482 is_a: HP:0002088 ! Abnormal lung morphology is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0002208 name: Coarse hair alt_id: HP:0200078 def: "Hair shafts are rough in texture." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Coarse hair" EXACT layperson [] synonym: "Coarse hair texture" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Rough hair texture" BROAD layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:48610005 xref: UMLS:C0277959 xref: UMLS:C4072834 is_a: HP:0001574 ! Abnormality of the integument [Term] id: HP:0002221 name: Absent axillary hair alt_id: HP:0004549 def: "Absence of axillary hair." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1859392 is_a: HP:0001574 ! Abnormality of the integument [Term] id: HP:0002236 name: Frontal upsweep of hair def: "Upward and/or sideward growth of anterior hair." [PMID:19125436] subset: hposlim_core synonym: "Cowlick" EXACT layperson [] synonym: "Frontal Cowlick" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Frontal upsweep of hair" EXACT layperson [] synonym: "Upswept frontal hair" EXACT layperson [] synonym: "Upswept frontal hair pattern" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Upswept frontal hairline" RELATED layperson [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1185616 xref: UMLS:C2675540 xref: UMLS:C3275754 is_a: HP:0010720 ! Abnormal hair pattern [Term] id: HP:0002239 name: Gastrointestinal hemorrhage def: "Hemorrhage affecting the gastrointestinal tract." [https://orcid.org/0000-0002-0736-9199] synonym: "Gastrointestinal bleeding" EXACT layperson [] synonym: "Gastrointestinal haemorrhage" EXACT uk_spelling [] synonym: "GI haemorrhage" EXACT uk_spelling [] synonym: "GI hemorrhage" EXACT abbreviation [] xref: ICD9:578 xref: MSH:D006471 xref: NCIt:C48592 xref: SNOMEDCT:74474003 xref: SNOMEDCT_US:74474003 xref: UMLS:C0017181 xref: UMLS:C1880931 is_a: HP:0001892 ! Abnormal bleeding is_a: HP:0011028 ! Abnormality of blood circulation is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract is_a: MP:0001914 ! hemorrhage property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002240 name: Hepatomegaly alt_id: HP:0001393 alt_id: HP:0001398 def: "Abnormally increased size of the liver." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlarged liver" EXACT layperson [] xref: MSH:D006529 xref: SNOMEDCT_US:80515008 xref: UMLS:C0019209 is_a: HP:0001392 ! Abnormality of the liver is_a: HP:0001438 ! Abnormal abdomen morphology property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002242 name: Abnormal intestine morphology alt_id: HP:0002628 def: "An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the intestine" EXACT layperson [] synonym: "Enteropathy" EXACT [] xref: MSH:D007410 xref: SNOMEDCT_US:85919009 xref: UMLS:C0021831 is_a: HP:0012718 ! Abnormal gastrointestinal tract morphology [Term] id: HP:0002243 name: Protein-losing enteropathy def: "Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract." [https://orcid.org/0000-0002-0736-9199] comment: Affected individuals may present with peripheral edema, diarrhea with or without bleeding, abdominal pain, and/or weight loss. Protein-losing enteropathy is not a disease but is a manifestation of a number of gastrointestinal diseases and can be related to factors such as lymphatic obstruction, mucosal disease with erosions, ulcerations, or increased mucosal permeability to proteins. xref: MSH:D011504 xref: SNOMEDCT_US:22542007 xref: SNOMEDCT_US:66972006 xref: UMLS:C0033680 is_a: HP:0002242 ! Abnormal intestine morphology [Term] id: HP:0002248 name: Hematemesis def: "The vomiting of blood." [https://orcid.org/0000-0002-0736-9199] comment: The source of hematemesis is generally the upper gastrointestinal tract. synonym: "Vomitting blood" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D006396 xref: SNOMEDCT_US:8765009 xref: UMLS:C0018926 is_a: HP:0002239 ! Gastrointestinal hemorrhage property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002250 name: Abnormal large intestine morphology def: "Any abnormality of the large intestine." [https://orcid.org/0000-0002-0736-9199] comment: The large intestine comprises the cecum and colon. synonym: "Abnormality of the large intestine" EXACT layperson [] xref: UMLS:C4025715 is_a: HP:0002242 ! Abnormal intestine morphology [Term] id: HP:0002251 name: Aganglionic megacolon alt_id: HP:0002029 alt_id: HP:0002030 alt_id: HP:0002606 alt_id: HP:0004391 def: "An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon." [https://orcid.org/0000-0002-0736-9199, PMID:17965226] comment: Aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. subset: hposlim_core synonym: "Congenital megacolon" EXACT [] synonym: "Enlarged colon lacking nerve cells" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Hirschsprung disease" RELATED [] synonym: "Hirschsprung megacolon" EXACT [] synonym: "Megacolon" EXACT [] xref: DOID:11372 xref: MEDDRA:10027110 "Megacolon" xref: MedDRA:10027110 xref: MSH:D006627 xref: MSH:D008531 xref: NCIt:C34810 xref: SNOMEDCT:33995003 xref: SNOMEDCT_US:204739008 xref: SNOMEDCT_US:33995003 xref: SNOMEDCT_US:367495003 xref: UMLS:C0019569 xref: UMLS:C0025160 is_a: HP:0000707 ! Abnormality of the nervous system is_a: HP:0002242 ! Abnormal intestine morphology [Term] id: HP:0002253 name: Colonic diverticula alt_id: HP:0005860 def: "The presence of multiple diverticula of the colon." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Colon diverticula" RELATED [] synonym: "Colonic diverticulosis" EXACT [] xref: MEDDRA:10009993 "Colonic diverticulosis" xref: MSH:D004241 xref: MSH:D043963 xref: SNOMEDCT_US:398050005 xref: UMLS:C0012811 xref: UMLS:C0012819 is_a: HP:0002250 ! Abnormal large intestine morphology property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002267 name: Exaggerated startle response def: "An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face." [https://orcid.org/0000-0002-0736-9199] synonym: "Exaggerated acoustic startle response" EXACT [] synonym: "Hyperekplexia" RELATED [] synonym: "Increased startle response" EXACT [] xref: MSH:D000071017 xref: SNOMEDCT_US:19557000 xref: UMLS:C0234166 xref: UMLS:C1740801 xref: UMLS:C1836014 xref: UMLS:C1848918 is_a: HP:0011442 ! Abnormal central motor function [Term] id: HP:0002269 name: Abnormality of neuronal migration alt_id: HP:0007317 def: "An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal neuronal migration" EXACT [] synonym: "Heterotopias/abnormal migration" EXACT [] synonym: "Migrational brain disorder" EXACT [] synonym: "Neuronal migration disorder" EXACT [] xref: MSH:D054081 xref: UMLS:C1837249 is_a: HP:0002011 ! Morphological central nervous system abnormality [Term] id: HP:0002275 name: Poor motor coordination synonym: "Poor motor coordination" EXACT layperson [] xref: UMLS:C1848453 is_a: HP:0011442 ! Abnormal central motor function [Term] id: HP:0002280 name: Enlarged cisterna magna def: "Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata." [https://orcid.org/0000-0002-0736-9199] comment: Cerebrospinal fluid produced in the fourth ventricle drains into the cisterna magna via the lateral apertures and median aperture. synonym: "Large cisterna magna" EXACT [] synonym: "Mega cisterna magna" RELATED [] xref: UMLS:C1853377 is_a: HP:0000932 ! Abnormal posterior cranial fossa morphology [Term] id: HP:0002282 name: Gray matter heterotopia alt_id: HP:0002281 alt_id: HP:0007314 def: "Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter." [http://www.wikidata.org/entity/Q90573458, https://orcid.org/0000-0001-5208-3432, PMID:22427329, PMID:25180909, PMID:7524438] comment: Gray matter heterotopia is caused by clumps of grey matter being located in the wrong part of the brain. It is characterized as a type of cortical malformation. The neurons in heterotopia may appear to be normal, except for their mislocation; nuclear studies have shown glucose metabolism equal to that of normally positioned gray matter. The condition causes a variety of symptoms, but usually includes some degree of epilepsy or recurring seizures, and often affects the brain's ability to function on higher levels. Symptoms range from nonexistent to profound, in which case heterotopia can result in severe seizure disorder, loss of motor skills, and mental retardation. Neuronal heterotopia consists of grey matter within the white matter, and the term grey matter heterotopia is more frequently used. synonym: "Gray matter heterotopias" EXACT plural_form [] synonym: "Grey matter heterotopia" EXACT uk_spelling [] synonym: "Grey matter heterotopias" EXACT uk_spelling [] synonym: "Heterotopia" EXACT [] synonym: "Heterotopias" EXACT plural_form [] synonym: "Neuronal heterotopia" EXACT [] xref: MSH:D002828 xref: SNOMEDCT_US:128490007 xref: SNOMEDCT_US:416286003 xref: SNOMEDCT_US:417338002 xref: UMLS:C0008519 is_a: HP:0002269 ! Abnormality of neuronal migration [Term] id: HP:0002283 name: Global brain atrophy alt_id: HP:0002369 alt_id: HP:0002462 def: "Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size." [https://orcid.org/0009-0006-4530-3154] comment: Global brain atrophy can be visualized and quantified by magnetic resonance imaging. synonym: "Diffuse brain atrophy" EXACT [] synonym: "Generalised brain atrophy" EXACT uk_spelling [] synonym: "Generalised brain degeneration" EXACT uk_spelling [] synonym: "Generalised cerebral atrophy" EXACT uk_spelling [] synonym: "Generalized brain atrophy" EXACT [] synonym: "Generalized brain degeneration" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Generalized cerebral atrophy" EXACT [] xref: UMLS:C0241816 is_a: HP:0012444 ! Brain atrophy [Term] id: HP:0002290 name: Poliosis def: "Circumscribed depigmentation of the hair of the head or the eyelashes." [https://orcid.org/0000-0002-0736-9199] synonym: "Patch of white hair" EXACT layperson [] synonym: "White patch" EXACT layperson [] xref: SNOMEDCT_US:14240001 xref: UMLS:C0221262 is_a: HP:0001574 ! Abnormality of the integument [Term] id: HP:0002293 name: Alopecia of scalp alt_id: HP:0200115 synonym: "Absence of scalp hair" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Baldness" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Missing scalp hair" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Pathologic hair loss from scalp" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Scalp hair loss" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: MSH:D000505 xref: SNOMEDCT_US:278040002 xref: SNOMEDCT_US:298000004 xref: SNOMEDCT_US:56317004 xref: UMLS:C0002170 xref: UMLS:C0574769 xref: UMLS:C1850535 is_a: HP:0000234 ! Abnormality of the head is_a: HP:0001574 ! Abnormality of the integument [Term] id: HP:0002300 name: Mutism def: "Inability to speak or communicate verbally past the age of typical language development." [] synonym: "Inability to speak" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Muteness" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D009155 xref: SNOMEDCT_US:88052002 xref: UMLS:C0026884 is_a: HP:0002167 ! Abnormality of speech or vocalization property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-5395-5036 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-6886-767X property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8423-2623 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9114-8737 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0375-6247 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-2414-5605 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4487-3589 [Term] id: HP:0002304 name: Akinesia def: "Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily." [https://orcid.org/0000-0002-0736-9199] comment: Akinesia is a typical extrapyramidal abnormality. xref: SNOMEDCT_US:33994004 xref: UMLS:C0085623 is_a: HP:0000708 ! Atypical behavior is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002307 name: Drooling def: "Habitual flow of saliva out of the mouth." [https://orcid.org/0000-0002-0736-9199, PMID:15202698] synonym: "Dribbling" EXACT layperson [] synonym: "Drooling" EXACT layperson [] synonym: "Sialorrhea" EXACT [https://orcid.org/0009-0006-4530-3154] xref: MSH:D012798 xref: SNOMEDCT_US:275295002 xref: SNOMEDCT_US:53827007 xref: SNOMEDCT_US:62718007 xref: UMLS:C0013132 xref: UMLS:C0037036 is_a: HP:0000708 ! Atypical behavior is_a: HP:0100755 ! Abnormality of salivation [Term] id: HP:0002313 name: Spastic paraparesis alt_id: HP:0007191 xref: MSH:D020336 xref: SNOMEDCT_US:312444006 xref: UMLS:C0037771 is_a: HP:0002061 ! Lower limb spasticity is_a: HP:0002385 ! Paraparesis [Term] id: HP:0002315 name: Headache alt_id: HP:0000266 alt_id: HP:0001354 def: "Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve." [https://orcid.org/0000-0002-0736-9199, PMID:15304572] comment: Headache is one of the most common types of recurrent pain as well as one of the most frequent symptoms in neurology. In addition to occasional headaches, there are well-defined headache disorders that vary in incidence, prevalence and duration and can be divided into two broad categories. In secondary headache disorders, headaches are attributed to another condition, such as brain tumor or head injury; for the primary disorders the headache is not due to another condition. synonym: "Headache" EXACT layperson [] synonym: "Headaches" EXACT layperson [] xref: ICD10:R51 xref: MSH:D006261 xref: SNOMEDCT_US:25064002 xref: UMLS:C0018681 is_a: HP:0012638 ! Abnormal nervous system physiology property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002317 name: Unsteady gait synonym: "Gait instability" EXACT [] synonym: "Unsteady walk" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D020233 xref: SNOMEDCT_US:22631008 xref: SNOMEDCT_US:394616008 xref: UMLS:C0231686 is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002321 name: Vertigo def: "An abnormal sensation of spinning while the body is actually stationary." [https://orcid.org/0000-0002-0736-9199] synonym: "Dizziness" RELATED layperson [] synonym: "Dizzy spell" EXACT layperson [] xref: MSH:D004244 xref: MSH:D014717 xref: SNOMEDCT_US:271789005 xref: SNOMEDCT_US:399090003 xref: SNOMEDCT_US:399153001 xref: SNOMEDCT_US:404640003 xref: UMLS:C0012833 xref: UMLS:C0042571 is_a: HP:0000598 ! Abnormality of the ear property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002335 name: Agenesis of cerebellar vermis alt_id: HP:0007125 def: "Congenital absence of the vermis of cerebellum." [https://orcid.org/0000-0002-0736-9199] synonym: "Cerebellar vermis aplasia" EXACT [] synonym: "Vermian agenesis" EXACT [] xref: MSH:C536293 xref: SNOMEDCT_US:253175003 xref: SNOMEDCT_US:716997004 xref: UMLS:C0431399 is_a: HP:0007360 ! Aplasia/Hypoplasia of the cerebellum [Term] id: HP:0002342 name: Intellectual disability, moderate alt_id: HP:0007303 def: "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49." [https://orcid.org/0000-0002-0736-9199] synonym: "IQ between 34 and 49" EXACT layperson [https://www.merckmanuals.com/home/children-s-health-issues/learning-and-developmental-disorders/intellectual-disability] synonym: "Mental retardation, moderate" EXACT [] synonym: "Moderate mental deficiency" EXACT [] synonym: "Moderate mental retardation" EXACT [] xref: SNOMEDCT_US:61152003 xref: UMLS:C0026351 is_a: HP:0001249 ! Intellectual disability [Term] id: HP:0002344 name: Progressive neurologic deterioration synonym: "Neurologic deterioration" EXACT [] synonym: "Neurologic deterioration, progressive" EXACT [] synonym: "Progressive mental deterioration" EXACT [] synonym: "Progressive neurodegeneration" EXACT [] synonym: "Worsening neurological symptoms" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1854838 is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0002350 name: Cerebellar cyst synonym: "Cerebellar cysts" EXACT [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1847762 is_a: HP:0002438 ! Cerebellar malformation [Term] id: HP:0002352 name: Leukoencephalopathy alt_id: HP:0006838 alt_id: HP:0007073 def: "This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells." [https://orcid.org/0000-0002-0736-9199] comment: This feature can be demonstrated by magnetic resonance imaging or computer tomography. xref: MSH:D056784 xref: SNOMEDCT_US:22811006 xref: UMLS:C0270612 is_a: HP:0012443 ! Abnormal brain morphology [Term] id: HP:0002353 name: EEG abnormality alt_id: HP:0001346 alt_id: HP:0002429 alt_id: HP:0006841 def: "Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal EEG" EXACT abbreviation [] synonym: "Abnormal electroencephalogram" EXACT [] synonym: "EEG abnormalities" EXACT abbreviation [] synonym: "Electroencephalogram abnormal" EXACT [] synonym: "Electroencephalogram abnormalities" EXACT [] xref: SNOMEDCT_US:274521009 xref: UMLS:C0151611 is_a: HP:0012638 ! Abnormal nervous system physiology [Term] id: HP:0002355 name: Difficulty walking alt_id: HP:0007101 alt_id: HP:0009030 def: "Reduced ability to walk (ambulate)." [https://orcid.org/0000-0002-0736-9199] synonym: "Difficulty in walking" EXACT layperson [] synonym: "Difficulty walking" EXACT layperson [] synonym: "Walking disability" EXACT [] xref: MSH:D051346 xref: SNOMEDCT_US:228158008 xref: UMLS:C0311394 is_a: HP:0001288 ! Gait disturbance is_a: HP:0011804 ! Abnormal muscle physiology [Term] id: HP:0002370 name: Poor coordination synonym: "Poor coordination" EXACT layperson [] xref: UMLS:C0563243 is_a: HP:0011442 ! Abnormal central motor function [Term] id: HP:0002373 name: Febrile seizure (within the age range of 3 months to 6 years) alt_id: HP:0002175 alt_id: HP:0007102 def: "A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years." [https://orcid.org/0000-0002-0736-9199, PMID:10353950, PMID:19125841, PMID:30078767, PMID:6779259] comment: Typically febrile seizures are limited to the age range of 3 months to 6 years and not accompanied or preceded by afebrile seizures; in this case febrile seizures are not considered indicative of epilepsy. When febrile seizures occur prior to the age of 3 months, or continue beyond the 6th birthday, or when a person has both febrile seizures and afebrile generalized tonic-clonic seizures then a diagnosis of Febrile Seizures Plus (an epilepsy syndrome) may be made. synonym: "Febrile convulsion" EXACT [] synonym: "Febrile seizures" EXACT plural_form [] synonym: "Fever induced seizures" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Seizures, febrile, in early childhood" EXACT [] synonym: "Seizures, generalized, associated with fever" EXACT [] xref: MSH:D003294 xref: OMIM:604352 xref: OMIM:614418 xref: SNOMEDCT_US:41497008 xref: UMLS:C0009952 xref: UMLS:C0595982 is_a: HP:0001250 ! Seizure property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002376 name: Developmental regression alt_id: HP:0002471 alt_id: HP:0002489 alt_id: HP:0006797 alt_id: HP:0006828 alt_id: HP:0006854 alt_id: HP:0007037 alt_id: HP:0007242 alt_id: HP:0007247 def: "Loss of developmental skills, as manifested by loss of developmental milestones." [https://orcid.org/0000-0002-6410-0882] comment: Developmental regression is said to occur when a child that has reached a certain psychomotor developmental stage starts to regress and to lose the acquired milestones. synonym: "Loss of developmental milestones" EXACT layperson [] synonym: "Mental deterioration in childhood" EXACT layperson [] synonym: "Neurodevelopmental regression" EXACT [] synonym: "Psychomotor regression" EXACT [] synonym: "Psychomotor regression beginning in infancy" EXACT [] synonym: "Psychomotor regression in infants" EXACT [] synonym: "Psychomotor regression, progressive" EXACT [] xref: SNOMEDCT_US:609225004 xref: UMLS:C1836550 xref: UMLS:C1836830 xref: UMLS:C1850493 xref: UMLS:C1855009 xref: UMLS:C1855019 xref: UMLS:C1855996 xref: UMLS:C1857121 xref: UMLS:C1859678 is_a: HP:0012759 ! Neurodevelopmental abnormality [Term] id: HP:0002378 name: Hand tremor def: "An unintentional, oscillating to-and-fro muscle movement affecting the hand." [] synonym: "Hand tremor" EXACT layperson [] synonym: "Tremor of hand" EXACT layperson [] synonym: "Tremor of hands" EXACT layperson [] synonym: "tremors in hands" EXACT layperson [] xref: UMLS:C0239842 is_a: HP:0001337 ! Tremor [Term] id: HP:0002381 name: Aphasia alt_id: HP:0002357 def: "An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write." [PMID:27384070] comment: Aphasia is caused by brain injury. The most common cause is stroke, but aphasia can also be caused by other factors such as head trauma, brain tumors, or infections. The terms aphasia and dysphasia are usually considered to be synonymous, but the word dysphasia has been used inconsistently and it is recommended to no longer use the term dysphasia. synonym: "Difficulty finding words" EXACT layperson [] synonym: "Losing words" EXACT layperson [] synonym: "Loss of words" EXACT layperson [] xref: MSH:D001037 xref: SNOMEDCT_US:87486003 xref: UMLS:C0003537 is_a: HP:0002167 ! Abnormality of speech or vocalization property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002384 name: Focal impaired awareness seizure alt_id: HP:0002278 def: "Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure." [https://orcid.org/0000-0002-0736-9199, PMID:28276062, PMID:28276064, PMID:9738682] comment: Awareness during a seizure is defined as the person being fully aware of themselves and their environment throughout the seizure, even if immobile. If awareness is impaired at any point during the seizure, the seizure is a focal impaired awareness seizure. The degree of loss of awareness may vary. The terms 'complex partial seizure' and 'focal dyscognitive seizure' were previously used to denote a focal impaired awareness seizure. synonym: "Complex focal seizures" EXACT [] synonym: "Complex partial seizure" EXACT [] synonym: "Complex partial seizures" EXACT [] synonym: "Dyscognitive seizures" EXACT [] synonym: "Focal dyscognitive seizure" EXACT [] synonym: "Focal impaired awareness seizures" EXACT plural_form [] synonym: "Focal seizure with impairment of awareness" EXACT [] synonym: "Focal seizure with loss of awareness" EXACT [] synonym: "Focal seizures with impairment of consciousness or awareness" EXACT plural_form [] synonym: "Localised dyscognitive seizure" EXACT [] synonym: "Localised seizure with impaired awareness" EXACT [] synonym: "Localised seizure with loss of awareness" EXACT [] synonym: "Localized dyscognitive seizure" EXACT [] synonym: "Localized seizure with impaired awareness" EXACT [] synonym: "Localized seizure with loss of awareness" EXACT [] synonym: "Partial dyscognitive seizure" EXACT [] synonym: "Partial seizure with impairment of awareness" EXACT [] synonym: "Partial seizure with loss of awareness" EXACT [] xref: SNOMEDCT_US:4103001 xref: UMLS:C0149958 xref: UMLS:C0270834 is_a: HP:0007359 ! Focal-onset seizure [Term] id: HP:0002385 name: Paraparesis def: "Weakness or partial paralysis in the lower limbs." [https://orcid.org/0000-0002-0736-9199] comment: Diseases of the spinal cord that affect motor function of the legs produce a gait characterized by both leg weakness and spasticity. synonym: "Partial paralysis of legs" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D020335 xref: SNOMEDCT_US:1845001 xref: UMLS:C0221166 is_a: HP:0011442 ! Abnormal central motor function [Term] id: HP:0002395 name: Lower limb hyperreflexia alt_id: HP:0007245 alt_id: HP:0007288 synonym: "Brisk lower extremity reflexes" EXACT [] synonym: "Hyperreflexia in lower limbs" EXACT [] synonym: "Hyperreflexia in the lower limbs" EXACT [] synonym: "Increased deep tendon reflexes in the lower limbs" EXACT [] synonym: "Leg hyperreflexia" EXACT [] synonym: "Overactive lower leg reflex" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1836696 is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0002411 name: Myokymia def: "Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle." [PMID:21501741] comment: Myokymia is characterized electrophysiologically by rhythmic or semi-rhythmic bursts of a single motor unit discharging several times a second at a rate of 3-8 Hz. These myokymic discharges are nonsynchronous in different muscles or even in the same muscle, with intervals of 100-200 milliseconds separating individual bursts. The spontaneous discharges are not initiated by voluntary movement, although they may increase with such activity. xref: MSH:D020385 xref: SNOMEDCT_US:27678003 xref: UMLS:C0684219 is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002419 name: Molar tooth sign on MRI def: "An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth." [https://orcid.org/0000-0002-0736-9199, PMID:14657304] comment: Molar tooth appearance results from a lack of normal decussation of superior cerebellar peduncular fiber tracts which in turn leads to enlargement of the peduncles, which also follow a more horizontal course. The absence of crossing fibers also leads to a reduction in the anteroposterior diameter of the midbrain and deepening of the interpeduncular cistern. synonym: "Molar tooth sign" EXACT [] synonym: "Molar tooth sign on brain imaging" EXACT [] synonym: "Molar tooth sign on imaging" EXACT [] xref: UMLS:C1865060 is_a: HP:0012443 ! Abnormal brain morphology [Term] id: HP:0002438 name: Cerebellar malformation xref: UMLS:C4025708 is_a: HP:0012443 ! Abnormal brain morphology [Term] id: HP:0002442 name: Dyscalculia def: "A specific learning disability involving mathematics and arithmetic." [https://orcid.org/0000-0002-0736-9199] synonym: "Difficulty making arithmetical calculations" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:47916000 xref: UMLS:C1411876 xref: UMLS:C4280576 is_a: HP:0001328 ! Specific learning disability [Term] id: HP:0002448 name: Progressive encephalopathy synonym: "Progressive brain disease" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1838578 xref: UMLS:C4280575 is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0002459 name: obsolete Dysautonomia is_obsolete: true replaced_by: HP:0012332 [Term] id: HP:0002460 name: Distal muscle weakness alt_id: HP:0002598 alt_id: HP:0002935 alt_id: HP:0003497 alt_id: HP:0006940 alt_id: HP:0009008 def: "Reduced strength of the musculature of the distal extremities." [https://orcid.org/0000-0002-0736-9199] comment: Typically, at onset the lower limbs are more affected than upper limbs. The distribution of weakness is often roughly symmetric. synonym: "Distal limb muscle weakness" EXACT [] synonym: "Distal limb muscle weakness due to peripheral neuropathy" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Distal limb weakness" EXACT [] synonym: "Distal muscular weakness" EXACT [] synonym: "Distal paresis" EXACT [] synonym: "Muscle weakness, distal" EXACT [] synonym: "Muscle weakness, distal limbs, due to neuronopathy" EXACT [] synonym: "Weakness of distal muscles" EXACT [] synonym: "Weakness of outermost muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:249942005 xref: UMLS:C0427065 xref: UMLS:C1864696 is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0002465 name: Poor speech synonym: "Difficulty speaking" RELATED layperson [] synonym: "Poor speech" EXACT layperson [] synonym: "Problems speaking" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1848207 xref: UMLS:C4280574 is_a: HP:0002167 ! Abnormality of speech or vocalization [Term] id: HP:0002474 name: Expressive language delay alt_id: HP:0007192 def: "A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts." [https://orcid.org/0000-0002-0736-9199] synonym: "Communication delay" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Deficit in expressive language" EXACT [] xref: SNOMEDCT_US:229734008 xref: UMLS:C0454641 xref: UMLS:C1847610 xref: UMLS:C4280573 is_a: HP:0000750 ! Delayed speech and language development [Term] id: HP:0002500 name: Abnormal cerebral white matter morphology alt_id: HP:0200100 def: "An abnormality of the cerebral white matter." [https://orcid.org/0000-0002-0736-9199] comment: This finding can be demonstrated by magnetic resonance imaging, especially with t2 signalling. The cerebral white matter is the region of the central nervous system that consists mostly of glial cells and myelinated axons that interconnect the various regions of the cerebrum and the lower brain centers. It is located in the subcortex. synonym: "Abnormality of subcortical white matter" EXACT [] synonym: "Abnormality of the cerebral white matter" EXACT [] synonym: "Cerebral white matter abnormalities" EXACT [] synonym: "Cortical white matter abnormalities seen on MRI" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Leukoaraiosis" EXACT [PMID:3800716] synonym: "White matter abnormalities" EXACT [] synonym: "White matter alterations" EXACT [] xref: MSH:D049292 xref: UMLS:C0948163 xref: UMLS:C4020851 is_a: HP:0012443 ! Abnormal brain morphology [Term] id: HP:0002505 name: Loss of ambulation alt_id: HP:0006957 def: "Inability to walk in a person who previous had the ability to walk." [] synonym: "Loss of ability to walk" EXACT layperson [] xref: UMLS:C1836843 is_a: HP:0002540 ! Inability to walk [Term] id: HP:0002508 name: Brainstem dysplasia alt_id: HP:0006991 def: "A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord." [https://orcid.org/0000-0002-0736-9199] synonym: "Brainstem hypoplasia/dysplasia" EXACT [] synonym: "Malformation of brainstem structures" EXACT [] xref: UMLS:C1855677 is_a: HP:0012443 ! Abnormal brain morphology [Term] id: HP:0002509 name: Limb hypertonia synonym: "Increased muscle tone of arm or leg" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1838391 is_a: HP:0001276 ! Hypertonia is_a: HP:0011805 ! Abnormal skeletal muscle morphology is_a: HP:0040064 ! Abnormality of limbs [Term] id: HP:0002510 name: Spastic tetraplegia alt_id: HP:0001280 alt_id: HP:0006983 def: "Spastic paralysis affecting all four limbs." [https://orcid.org/0000-0002-0736-9199] synonym: "Spastic quadriplegia" EXACT [] xref: MSH:D011782 xref: SNOMEDCT_US:192965001 xref: UMLS:C0426970 is_a: HP:0001257 ! Spasticity is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002514 name: Cerebral calcification alt_id: HP:0002502 alt_id: HP:0005806 alt_id: HP:0006848 def: "The presence of calcium deposition within brain structures." [https://orcid.org/0000-0002-0736-9199] comment: This finding can be demonstrated upon cerebral computer tomography, magnetic resonance imaging, or potentially by standard radiography of the skull. synonym: "Abnormal deposits of calcium in the brain" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Brain calcification" EXACT [] synonym: "Intracerebral calcifications" EXACT [] synonym: "Intracranial calcification" EXACT [] synonym: "Intracranial calcifications" EXACT [] xref: SNOMEDCT_US:17944005 xref: UMLS:C0270685 is_a: HP:0000924 ! Abnormality of the skeletal system is_a: HP:0012443 ! Abnormal brain morphology [Term] id: HP:0002515 name: Waddling gait def: "Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck." [PMID:27770207] synonym: "Waddling gait" EXACT layperson [] synonym: "Waddling walk" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D020233 xref: SNOMEDCT_US:271706000 xref: UMLS:C0231712 is_a: HP:0000708 ! Atypical behavior is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002536 name: Abnormal cortical gyration alt_id: HP:0006900 def: "An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal gyration" EXACT [] synonym: "Cerebral gyral anomalies" EXACT [] synonym: "Gyral disorganisation" BROAD uk_spelling [] synonym: "Gyral disorganization" BROAD [] xref: UMLS:C1856019 is_a: HP:0002269 ! Abnormality of neuronal migration is_a: HP:0012443 ! Abnormal brain morphology [Term] id: HP:0002540 name: Inability to walk def: "Incapability to ambulate." [https://orcid.org/0000-0002-0736-9199] synonym: "Inability to walk" EXACT layperson [] synonym: "Non-ambulatory" EXACT [] xref: SNOMEDCT_US:282145008 xref: UMLS:C0560046 is_a: HP:0000708 ! Atypical behavior is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002555 name: Absent pubic hair alt_id: HP:0004537 alt_id: HP:0004556 def: "Absence of pubic hair." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Absent pubic hair" EXACT layperson [] xref: UMLS:C1859391 is_a: HP:0001574 ! Abnormality of the integument [Term] id: HP:0002566 name: Intestinal malrotation alt_id: HP:0002026 def: "An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis." [https://orcid.org/0000-0002-0736-9199, PMID:12438031] subset: hposlim_core synonym: "Gut malrotation" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Malrotation" EXACT [] xref: MEDDRA:10064024 "Intestinal malrotation" xref: MSH:C562456 xref: SNOMEDCT_US:253789002 xref: SNOMEDCT_US:29980002 xref: SNOMEDCT_US:48641006 xref: UMLS:C0221210 is_a: HP:0002242 ! Abnormal intestine morphology [Term] id: HP:0002571 name: Achalasia def: "A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus." [https://orcid.org/0000-0002-0736-9199] comment: Achalasia may lead to regurgitation of food, chest pain, cough, and difficulty swallowing. subset: hposlim_core synonym: "Achalasia of the esophagus" EXACT [] synonym: "Achalasia of the oesophagus" EXACT uk_spelling [] xref: MEDDRA:10030136 "Oesophageal achalasia" xref: MSH:D004931 xref: SNOMEDCT_US:45564002 xref: UMLS:C0014848 is_a: HP:0025270 ! Abnormal esophagus physiology is_a: HP:0030914 ! Abnormal peristalsis property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002573 name: Hematochezia alt_id: HP:0002255 alt_id: HP:0002609 def: "The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus." [https://orcid.org/0000-0002-6410-0882] comment: Bright red blood in stool, most frequentoly caused by hemorrhoids or diverticulosis. synonym: "Rectal bleeding" EXACT layperson [] synonym: "Recurrent rectal bleeding" RELATED layperson [https://orcid.org/0000-0002-5316-1399] xref: MSH:D006471 xref: NCIt:C98936 xref: SNOMEDCT:405729008 xref: SNOMEDCT_US:236068001 xref: SNOMEDCT_US:405729008 xref: UMLS:C0018932 is_a: HP:0002014 ! Diarrhea is_a: HP:0002239 ! Gastrointestinal hemorrhage property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002574 name: Episodic abdominal pain def: "An intermittent form of abdominal pain." [https://orcid.org/0000-0002-0736-9199] synonym: "Intermittent abdominal pain" RELATED layperson [] xref: UMLS:C0262527 xref: UMLS:C3808022 is_a: HP:0002027 ! Abdominal pain [Term] id: HP:0002575 name: Tracheoesophageal fistula def: "An abnormal connection (fistula) between the esophagus and the trachea." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal connection between trachea and esophagus" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Abnormal connection between trachea and oesophagus" BROAD uk_spelling [] xref: Fyler:4202 xref: MEDDRA:10044310 "Tracheo-oesophageal fistula" xref: MSH:D014138 xref: SNOMEDCT_US:95435007 xref: UMLS:C0040588 is_a: HP:0002031 ! Abnormal esophagus morphology is_a: HP:0002086 ! Abnormality of the respiratory system [Term] id: HP:0002576 name: Intussusception def: "An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine." [https://orcid.org/0000-0002-0736-9199] comment: Intussusception can lead to intestinal obstruction as well as to the interruption of the blood supply to the intestine. It can affect small or large bowel. subset: hposlim_core xref: MEDDRA:10022863 "Intussusception" xref: MSH:D007443 xref: SNOMEDCT_US:35327006 xref: SNOMEDCT_US:49723003 xref: UMLS:C0021933 is_a: HP:0002242 ! Abnormal intestine morphology [Term] id: HP:0002579 name: Gastrointestinal dysmotility def: "Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "GI dysmotility" EXACT abbreviation [] xref: UMLS:C1836923 is_a: HP:0030895 ! Abnormal gastrointestinal motility [Term] id: HP:0002590 name: Paralytic ileus xref: MSH:D007418 xref: SNOMEDCT_US:55525008 xref: UMLS:C0030446 is_a: HP:0002242 ! Abnormal intestine morphology is_a: HP:0002579 ! Gastrointestinal dysmotility is_a: HP:0004796 ! Gastrointestinal obstruction [Term] id: HP:0002597 name: Abnormality of the vasculature def: "An abnormality of the vasculature." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of blood vessels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the vasculature" EXACT layperson [] synonym: "Vascular abnormalities" EXACT layperson [] xref: ICD10:Q27 xref: UMLS:C0241657 is_a: HP:0001626 ! Abnormality of the cardiovascular system property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002605 name: Hepatic necrosis def: "The presence of cell death (necrosis) affecting the liver." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:87248009 xref: UMLS:C0151798 is_a: HP:0001392 ! Abnormality of the liver property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-20T11:32:00Z [Term] id: HP:0002616 name: Aortic root aneurysm alt_id: HP:0002631 alt_id: HP:0004750 alt_id: HP:0005125 def: "An abnormal localized widening (dilatation) of the aortic root." [] synonym: "Aortic root dilatation" BROAD [] synonym: "Bulge in wall of root of large artery that carries blood away from heart" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Increased aortic root diameter" EXACT [] xref: SNOMEDCT_US:251036003 xref: UMLS:C0238669 is_a: HP:0001679 ! Abnormal aortic morphology is_a: HP:0002617 ! Vascular dilatation [Term] id: HP:0002617 name: Vascular dilatation def: "Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart." [https://orcid.org/0000-0002-0736-9199, PMID:30225143] comment: Aneurysm is considered a severe form of dilatation. synonym: "Aneurysm" NARROW layperson [] synonym: "Aneurysmal dilatation" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Aneurysmal disease" RELATED layperson [] synonym: "Aneurysms" NARROW layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Wider than typical opening or gap" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: Fyler:2399 xref: MSH:D000783 xref: SNOMEDCT_US:432119003 xref: SNOMEDCT_US:85659009 xref: UMLS:C0002940 xref: UMLS:C4020848 is_a: HP:0002597 ! Abnormality of the vasculature is_a: HP:0030680 ! Abnormal cardiovascular system morphology [Term] id: HP:0002619 name: Varicose veins def: "Enlarged and tortuous veins." [https://orcid.org/0000-0002-0736-9199] xref: DOID:799 xref: ICD10:I83 xref: ICD10:I86 xref: MSH:D014648 xref: SNOMEDCT_US:128060009 xref: SNOMEDCT_US:12856003 xref: SNOMEDCT_US:399989005 xref: UMLS:C0042345 is_a: HP:0002624 ! Abnormal venous morphology property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002624 name: Abnormal venous morphology def: "An anomaly of vein." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal vein" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Venous abnormality" EXACT [] xref: UMLS:C0241665 is_a: HP:0002597 ! Abnormality of the vasculature is_a: HP:0030680 ! Abnormal cardiovascular system morphology [Term] id: HP:0002637 name: Cerebral ischemia def: "Restriction of arterial blood supply to the brain associated with insufficient oxygenation to support the metabolic requirements of the tissue." [] synonym: "Brain ischemia" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Cerebrovascular ischemia" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Disruption of blood oxygen supply to brain" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D002545 xref: SNOMEDCT_US:287731003 xref: SNOMEDCT_US:389100007 xref: UMLS:C0007786 xref: UMLS:C0917798 is_a: EFO:0000556 ! ischemia is_a: HP:0002597 ! Abnormality of the vasculature is_a: HP:0011025 ! Abnormal cardiovascular system physiology property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002647 name: Aortic dissection alt_id: HP:0002622 def: "Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta." [https://orcid.org/0000-0002-0736-9199] synonym: "Tear in inner wall of large artery that carries blood away from heart" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:308546005 xref: UMLS:C0340643 is_a: HP:0001679 ! Abnormal aortic morphology [Term] id: HP:0002652 name: Skeletal dysplasia alt_id: HP:0005685 def: "A general term describing features characterized by abnormal development of bones and connective tissues." [https://orcid.org/0000-0002-0736-9199] comment: The word skeletal dysplasia is most often used to describe a group of over 380 inherited conditions that involve abnormal development of bones and connective tissues. However, the word can also be used to describe the presence of congenital defects of bones or connective tissues that are found in one or more of the diseases, especially on prenatal ultrasound, i.e., a situation in which it is often not yet possible to make an exact etiological diagnosis. This is the sense of the phrase we use in the HPO. It is, however, preferable to annotate the observed abnormalities. synonym: "Abnormal skeletal development" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D010009 xref: SNOMEDCT_US:105985007 xref: SNOMEDCT_US:240190009 xref: UMLS:C0029422 xref: UMLS:C0410528 xref: UMLS:C4280567 is_a: HP:0011842 ! Abnormal skeletal morphology [Term] id: HP:0002653 name: Bone pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone." [] synonym: "Bone pain" EXACT layperson [] xref: SNOMEDCT_US:12584003 xref: UMLS:C0151825 is_a: HP:0000924 ! Abnormality of the skeletal system is_a: HP:0025142 ! Constitutional symptom [Term] id: HP:0002655 name: Spondyloepiphyseal dysplasia alt_id: HP:0002776 alt_id: HP:0005893 def: "A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses)." [https://orcid.org/0000-0002-0736-9199] synonym: "Spondyloepiphyseal dysplasia tarda" EXACT [] xref: MSH:D010009 xref: UMLS:C0038015 is_a: HP:0002652 ! Skeletal dysplasia [Term] id: HP:0002659 name: Increased susceptibility to fractures alt_id: HP:0002662 alt_id: HP:0002798 alt_id: HP:0005710 alt_id: HP:0005783 alt_id: HP:0005931 def: "An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture." [https://orcid.org/0009-0006-4530-3154] comment: This is a bundled term that will be made obsolete. synonym: "Abnormal susceptibility to fractures" EXACT layperson [] synonym: "Bone fragility" EXACT layperson [] synonym: "Frequent broken bones" EXACT layperson [] synonym: "Increased bone fragility" EXACT layperson [] synonym: "Increased susceptibility to fractures" EXACT layperson [] synonym: "Increased tendency to fractures" EXACT layperson [] xref: UMLS:C1390474 is_a: HP:0000924 ! Abnormality of the skeletal system [Term] id: HP:0002705 name: High, narrow palate def: "The presence of a high and narrow palate." [https://orcid.org/0000-0002-0736-9199] synonym: "Gothic palate" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "High narrow palate" EXACT [] synonym: "High vaulted palate" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "High, narrow palate" EXACT layperson [] synonym: "Narrow and high arched palate" EXACT [] synonym: "Narrow, high-arched palate" EXACT [] synonym: "Narrow, high-arched roof of mouth" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Narrow, highly arched palate" EXACT [] synonym: "Narrow, highly arched roof of mouth" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1837404 is_a: HP:0000218 ! High palate [Term] id: HP:0002714 name: Downturned corners of mouth alt_id: HP:0000192 def: "A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure." [https://orcid.org/0000-0002-0736-9199, PMID:19125428] comment: This finding should be assessed with the mouth closed, the lips in relaxed contact, and the face relaxed. The finding may be difficult to assess if the lower lip is enlarged. Previous terms for downturned corners of mouth included Carp mouth andFish mouth which are no longer recommended (pejorative terms). subset: hposlim_core synonym: "Downturned corners of mouth" EXACT layperson [] synonym: "Downturned corners of the mouth" EXACT layperson [] synonym: "Downturned mouth" EXACT layperson [] synonym: "Downturned oral commisures" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1866195 is_a: HP:0011338 ! Abnormality of mouth shape [Term] id: HP:0002715 name: Abnormality of the immune system alt_id: HP:0003257 alt_id: HP:0003346 alt_id: HP:0010986 def: "An abnormality of the immune system." [https://orcid.org/0000-0002-0736-9199] comment: The immune system is composed of organs and interdependent cell types that collectively protect the body from infections and from the growth of tumor cells. The organs of the immune system comprise the bone marrow, the spleen, the thymus,the lymph nodes, and the cell types comprise B cells, T cells, natural killer cells, granulocytes,dendritic cells, and macrophages. synonym: "Abnormality of the immune system" EXACT layperson [] synonym: "Immunological abnormality" EXACT layperson [] xref: ICD10:R76 xref: UMLS:C4021753 is_a: HP:0000118 ! Phenotypic abnormality property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002716 name: Lymphadenopathy alt_id: HP:0002735 def: "Enlargment (swelling) of a lymph node." [https://orcid.org/0000-0002-0736-9199] synonym: "Lymph node hyperplasia" EXACT [] synonym: "Swollen lymph nodes" EXACT layperson [] xref: MSH:D000072281 xref: SNOMEDCT_US:30746006 xref: UMLS:C0497156 is_a: HP:0100763 ! Abnormality of the lymphatic system property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002719 name: Recurrent infections alt_id: HP:0002957 alt_id: HP:0002964 alt_id: HP:0005405 def: "Increased susceptibility to infections." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-5316-1399] synonym: "Frequent infections" EXACT layperson [] synonym: "Frequent, severe infections" EXACT layperson [] synonym: "Increased frequency of infection" EXACT layperson [] synonym: "infections, recurrent" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Predisposition to infections" EXACT layperson [] synonym: "Recurrent infections" EXACT layperson [] synonym: "Susceptibility to infection" EXACT layperson [] xref: UMLS:C0239998 is_a: HP:0002715 ! Abnormality of the immune system [Term] id: HP:0002721 name: Immunodeficiency alt_id: HP:0005362 alt_id: HP:0005371 def: "Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance." [PMID:20042227] synonym: "Decreased immune function" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Immune deficiency" EXACT [] xref: MSH:D007153 xref: SNOMEDCT_US:234532001 xref: UMLS:C0021051 is_a: HP:0002715 ! Abnormality of the immune system [Term] id: HP:0002745 name: Oral leukoplakia def: "A thickened white patch on the oral mucosa that cannot be rubbed off." [https://orcid.org/0000-0002-0736-9199, PMID:17944749] comment: The definition of oral leukoplakia states that the lesion be characterized clinically or histologically as any other condition, and is not associated with any physical or chemical causative agent except tobacco. Leukoplakia is a precancerous lesion, i.e. a morphologically altered tissue in which cancer is more likely to occur than in its apparently normal counterpart. subset: hposlim_core synonym: "leukokeratosis" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Oral idiopathic keratosis" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Oral idiopathic leukoplakia" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Oral idiopathic white patch" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Oral leucoplakia" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Oral leukokeratosis" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Oral leukoplasia" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Oral white patch" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Oral white plaque" EXACT [https://orcid.org/0000-0001-5889-4463] xref: MeSH:D007972 xref: MSH:D007971 xref: MSH:D007972 xref: SNOMEDCT:50978000 xref: SNOMEDCT_US:414603003 xref: SNOMEDCT_US:9187004 xref: UMLS:C0023532 xref: UMLS:C1704317 is_a: HP:0000153 ! Abnormality of the mouth property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002747 name: Respiratory insufficiency due to muscle weakness alt_id: HP:0004882 alt_id: HP:0004888 synonym: "Decreased lung function due to weak breathing muscles" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Decreased respiratory function due to muscle weakness" EXACT [] synonym: "Respiratory distress due to muscle weakness" EXACT [] synonym: "Respiratory failure due to muscle weakness" EXACT [] synonym: "Respiratory muscle weakness" EXACT [] xref: UMLS:C3806467 is_a: HP:0001324 ! Muscle weakness is_a: HP:0002093 ! Respiratory insufficiency [Term] id: HP:0002750 name: Delayed skeletal maturation alt_id: HP:0000928 alt_id: HP:0002806 def: "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [https://orcid.org/0000-0002-0736-9199] synonym: "Delayed bone age" EXACT [] synonym: "Delayed bone age before puberty" EXACT [] synonym: "Delayed bone maturation" EXACT layperson [] synonym: "Delayed skeletal development" EXACT layperson [] synonym: "Retarded bone age" EXACT [] synonym: "Retarded ossification" RELATED [] synonym: "Skeletal maturation retardation" EXACT [] xref: SNOMEDCT_US:123983008 xref: UMLS:C0541764 is_a: HP:0000924 ! Abnormality of the skeletal system [Term] id: HP:0002751 name: Kyphoscoliosis alt_id: HP:0003412 alt_id: HP:0003424 alt_id: HP:0004593 alt_id: HP:0005728 def: "An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:405773007 xref: UMLS:C0575158 is_a: HP:0002808 ! Kyphosis [Term] id: HP:0002756 name: Pathologic fracture alt_id: HP:0005633 def: "A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Pathologic fractures" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Spontaneous fracture" EXACT layperson [] synonym: "Spontaneous fractures" RELATED [https://orcid.org/0000-0002-5316-1399] xref: MSH:D005598 xref: SNOMEDCT_US:22640007 xref: SNOMEDCT_US:268029009 xref: UMLS:C0016663 is_a: HP:0002659 ! Increased susceptibility to fractures [Term] id: HP:0002757 name: Recurrent fractures alt_id: HP:0002660 alt_id: HP:0002767 alt_id: HP:0002809 def: "The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture)." [https://orcid.org/0000-0002-0736-9199] comment: This term will be made obsolete. The annotations need to be checked. synonym: "Frequent fractures" EXACT [] synonym: "Increased fracture rate" EXACT layperson [] synonym: "Increased fractures" EXACT layperson [] synonym: "Multiple fractures" EXACT layperson [] synonym: "Multiple spontaneous fractures" EXACT layperson [] synonym: "Recurrent fractures" EXACT layperson [] synonym: "Varying degree of multiple fractures" EXACT layperson [] xref: MSH:D000069076 xref: SNOMEDCT_US:134291007 xref: SNOMEDCT_US:5468008 xref: UMLS:C0016655 xref: UMLS:C1833752 xref: UMLS:C3805574 xref: UMLS:C3806283 is_a: HP:0002659 ! Increased susceptibility to fractures [Term] id: HP:0002779 name: Tracheomalacia synonym: "Floppy windpipe" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D055090 xref: SNOMEDCT_US:95434006 xref: UMLS:C0948187 is_a: HP:0002086 ! Abnormality of the respiratory system [Term] id: HP:0002788 name: Recurrent upper respiratory tract infections alt_id: HP:0001740 alt_id: HP:0002784 def: "An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis)." [https://orcid.org/0000-0002-0736-9199] synonym: "Frequent upper respiratory infections" EXACT [] synonym: "Frequent upper respiratory tract infections" EXACT [] synonym: "Recurrent colds" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Recurrent upper respiratory and lower respiratory infections" EXACT [] synonym: "Recurrent upper respiratory infection" EXACT [] synonym: "Recurrent upper respiratory infections" EXACT [] synonym: "Recurrent URI" EXACT abbreviation [] synonym: "Upper respiratory tract infections" EXACT [] synonym: "Upper respiratory tract infections, recurrent" EXACT [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:195708003 xref: UMLS:C0581381 is_a: HP:0000366 ! Abnormality of the nose is_a: HP:0002205 ! Recurrent respiratory infections [Term] id: HP:0002791 name: Hypoventilation alt_id: HP:0004892 def: "A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide)." [https://orcid.org/0000-0002-0736-9199] comment: Not to be confused with Hypopnea, where the partial pressure of carbon dioxide can remain normal. synonym: "Alveolar hypoventilation" EXACT [] synonym: "Respiratory depression" RELATED [] synonym: "Slow breathing" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Under breathing" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: MSH:D007040 xref: MSH:D012131 xref: SNOMEDCT_US:15993004 xref: SNOMEDCT_US:31515003 xref: SNOMEDCT_US:80954004 xref: UMLS:C0235063 xref: UMLS:C3203358 is_a: HP:0002793 ! Abnormal pattern of respiration [Term] id: HP:0002793 name: Abnormal pattern of respiration def: "An anomaly of the rhythm or depth of breathing." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal pattern of respiration" EXACT layperson [] synonym: "Abnormal respiratory patterns" EXACT layperson [] synonym: "Unusual breathing patterns" EXACT layperson [] xref: UMLS:C1837388 is_a: HP:0002086 ! Abnormality of the respiratory system property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002808 name: Kyphosis alt_id: HP:0002769 alt_id: HP:0003314 def: "Exaggerated anterior convexity of the thoracic vertebral column." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Gibbus deformity" EXACT [] synonym: "Hunched back" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Hyperkyphosis" EXACT [] synonym: "Round back" EXACT layperson [] xref: MSH:D007738 xref: SNOMEDCT_US:414564002 xref: UMLS:C0022821 xref: UMLS:C1845112 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0002814 name: Abnormality of the lower limb def: "An abnormality of the leg." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the leg" EXACT [] synonym: "Abnormality of the lower limb" EXACT layperson [] synonym: "Lower limb deformities" EXACT layperson [] xref: SNOMEDCT_US:449715001 xref: UMLS:C1096086 is_a: HP:0040064 ! Abnormality of limbs [Term] id: HP:0002817 name: Abnormality of the upper limb alt_id: HP:0003838 def: "An abnormality of the arm." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the arm" EXACT [] synonym: "Abnormality of the upper limb" EXACT layperson [] xref: UMLS:C4020900 is_a: HP:0040064 ! Abnormality of limbs [Term] id: HP:0002829 name: Arthralgia def: "Joint pain." [https://orcid.org/0000-0002-0736-9199] comment: Arthralgia is distinct from Arthritis, which is not a symptom but a diagnosis with articular inflammation or signs of osteoarthritis. synonym: "Arthralgias" EXACT [] synonym: "Arthritic pain" RELATED [] synonym: "Joint pain" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Joint pains" RELATED layperson [https://orcid.org/0000-0002-5316-1399] xref: MSH:D018771 xref: NCIt:C50464 xref: SNOMEDCT:57676002 xref: SNOMEDCT_US:57676002 xref: UMLS:C0003862 is_a: HP:0025142 ! Constitutional symptom property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002840 name: Lymphadenitis def: "Inflammation of a lymph node." [https://orcid.org/0000-0002-0736-9199] synonym: "Inflammation of the lymph nodes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D008199 xref: SNOMEDCT_US:19471005 xref: UMLS:C0024205 is_a: HP:0012649 ! Increased inflammatory response is_a: HP:0100763 ! Abnormality of the lymphatic system property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002857 name: Genu valgum alt_id: HP:0004999 def: "The legs angle inward, such that the knees are close together and the ankles far apart." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Genu valga" EXACT [] synonym: "Genu valgus" EXACT [] synonym: "Genua valga" EXACT [] synonym: "Knee joint valgus deformity" EXACT [] synonym: "Knock knees" EXACT layperson [] xref: MEDDRA:10023480 "Knock-knee" xref: MSH:D056304 xref: SNOMEDCT_US:299330008 xref: UMLS:C0576093 is_a: HP:0002979 ! Bowing of the legs [Term] id: HP:0002883 name: Hyperventilation def: "Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide." [https://orcid.org/0000-0002-0736-9199] synonym: "Rapid breathing" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: MSH:D006985 xref: SNOMEDCT_US:68978004 xref: UMLS:C0020578 is_a: HP:0002793 ! Abnormal pattern of respiration property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002900 name: Hypokalemia def: "An abnormally decreased potassium concentration in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Low blood potassium levels" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: DOID:4500 xref: MSH:D007008 xref: NCIt:C37974 xref: SNOMEDCT:43339004 xref: SNOMEDCT_US:166690008 xref: SNOMEDCT_US:43339004 xref: UMLS:C0020621 is_a: HP:0003111 ! Abnormal blood ion concentration property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002901 name: Hypocalcemia def: "An abnormally decreased calcium concentration in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypocalcaemia" EXACT [] synonym: "Low blood calcium levels" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: ICD9:275.41 xref: MeSH:D006996 xref: MSH:D006996 xref: NCIt:C37973 xref: SNOMEDCT:5291005 xref: SNOMEDCT_US:5291005 xref: UMLS:C0020598 is_a: HP:0004363 ! Abnormal circulating calcium concentration [Term] id: HP:0002902 name: Hyponatremia def: "An abnormally decreased sodium concentration in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Low blood sodium levels" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: MSH:D007010 xref: SNOMEDCT_US:89627008 xref: UMLS:C0020625 is_a: HP:0010931 ! Abnormal blood sodium concentration property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002904 name: Hyperbilirubinemia def: "An increased amount of bilirubin in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "High blood bilirubin levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:26165005 xref: UMLS:C0311468 is_a: HP:0004354 ! Abnormal circulating carboxylic acid concentration is_a: HP:0004364 ! Abnormal circulating nitrogen compound concentration [Term] id: HP:0002905 name: Hyperphosphatemia def: "An abnormally increased phosphate concentration in the blood." [HPO_CONTRIBUTOR:gcarletti] synonym: "High blood phosphate levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D054559 xref: SNOMEDCT_US:20165001 xref: UMLS:C0085681 xref: UMLS:C0553706 is_a: HP:0100529 ! Abnormal blood phosphate concentration [Term] id: HP:0002907 name: Microscopic hematuria def: "Microscopic hematuria detected by dipstick or microscopic examination of the urine." [https://orcid.org/0009-0006-4530-3154] synonym: "Microhematuria" EXACT [] synonym: "Occult hematuria" EXACT [] synonym: "Small amount of blood in urine" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:197940006 xref: UMLS:C0239937 is_a: HP:0000790 ! Hematuria property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002910 name: Elevated hepatic transaminase alt_id: HP:0001411 alt_id: HP:0003143 alt_id: HP:0003156 alt_id: HP:0003293 alt_id: HP:0006567 alt_id: HP:0006578 alt_id: HP:0008267 alt_id: HP:0008342 def: "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal liver enzymes" EXACT [] synonym: "Abnormal liver function" EXACT [] synonym: "Abnormal liver function tests" EXACT [] synonym: "Elevated liver enzymes" EXACT [] synonym: "Elevated liver function tests" RELATED [] synonym: "Elevated serum transaminases" EXACT [] synonym: "Elevated transaminases" EXACT [] synonym: "High liver enzymes" EXACT layperson [] synonym: "Increased liver enzymes" EXACT [] synonym: "Increased liver function tests" EXACT [] synonym: "Increased transaminases" EXACT [] synonym: "Raised liver enzymes" EXACT [] synonym: "Subclinical abnormal liver function tests" EXACT [] xref: MSH:D008107 xref: SNOMEDCT_US:166603001 xref: SNOMEDCT_US:166643006 xref: SNOMEDCT_US:75183008 xref: UMLS:C0086565 xref: UMLS:C0151766 xref: UMLS:C0235996 xref: UMLS:C0438237 xref: UMLS:C0438717 xref: UMLS:C0877359 xref: UMLS:C1842003 xref: UMLS:C1848701 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0002916 name: Abnormality of chromosome segregation def: "An abnormality of chromosome segregation." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025670 is_a: HP:0011017 ! Abnormal cellular physiology property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002917 name: Hypomagnesemia alt_id: HP:0003284 def: "An abnormally decreased magnesium concentration in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Low blood magnesium levels" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Low blood Mg levels" EXACT abbreviation [] xref: SNOMEDCT_US:190855004 xref: UMLS:C0151723 is_a: HP:0003111 ! Abnormal blood ion concentration property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002919 name: Ketonuria def: "High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state." [https://orcid.org/0000-0002-0736-9199, PMID:11344564] comment: Acetone is the main component of the ketone bodies. synonym: "Acetonuria" RELATED [] synonym: "Ketoaciduria" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Ketonaciduria" EXACT [] synonym: "Ketone bodies in urine" EXACT [https://orcid.org/0000-0002-6548-5200] xref: MSH:D007662 xref: SNOMEDCT_US:274783007 xref: SNOMEDCT_US:36815008 xref: UMLS:C0162275 is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0002921 name: Abnormal cerebrospinal fluid morphology def: "An abnormality of the cerebrospinal fluid (CSF)." [https://orcid.org/0000-0002-0736-9199] comment: The cerebrospinal fluid (CSF) is secreted by the choroid plexus, and flows uninterrupted throughout the central nervous system (the central cerebrospinal canal of the spinal cord and through the four interconnected cerebral ventricles in the brain). synonym: "Abnormal CSF findings" EXACT abbreviation [] synonym: "Abnormality of the cerebrospinal fluid" EXACT [] synonym: "Abnormality of the CSF" EXACT abbreviation [] xref: UMLS:C0151583 is_a: HP:0002011 ! Morphological central nervous system abnormality [Term] id: HP:0002928 name: Decreased activity of the pyruvate dehydrogenase complex synonym: "Decreased activity of the PDH complex" EXACT [] synonym: "Pyruvate dehydrogenase complex deficiency" EXACT [] xref: UMLS:C1839888 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0002936 name: Distal sensory impairment alt_id: HP:0003476 alt_id: HP:0006843 alt_id: HP:0006845 alt_id: HP:0006922 alt_id: HP:0006971 alt_id: HP:0006993 alt_id: HP:0007138 alt_id: HP:0007292 alt_id: HP:0007296 def: "An abnormal reduction in sensation in the distal portions of the extremities." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased distal sensation" EXACT [] synonym: "Decreased sensation in extremities" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Distal sensation loss" EXACT [] synonym: "Distal sensory impairment in lower limbs" EXACT [] synonym: "Distal sensory impairment of the lower extremities" EXACT [] synonym: "Distal sensory loss" EXACT [] synonym: "Distal sensory loss, upper and lower limbs" EXACT [] synonym: "Loss of distal sensation" EXACT [] xref: UMLS:C1847584 is_a: HP:0003474 ! Somatic sensory dysfunction [Term] id: HP:0002937 name: Hemivertebrae def: "Absence of one half of the vertebral body." [https://orcid.org/0000-0002-0736-9199] comment: Lateral hemivertebrae represent a developmental defect resulting from the failure of the contralateral chondral center to develop. Dorsal hemivertebrae result from a developmental defect in which the anterior chondral centers fail to develop, and ventral hemivertebrae result from failure of the posterior centers to ossify. The affected half of the vertebral body may by hypoplastic or absent, as is the pedicle, and (for thoracic vetebrae) the corresponding rib. The affected half of the vertebral body may also show a fusion or segmentation defect. subset: hposlim_core synonym: "Hemi-vertebrae" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Hemivertebra" EXACT [] synonym: "Missing part of vertebrae" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:68359008 xref: UMLS:C0265677 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0002938 name: Lumbar hyperlordosis alt_id: HP:0002941 alt_id: HP:0004560 alt_id: HP:0004574 alt_id: HP:0004596 def: "An abnormal accentuation of the inward curvature of the spine in the lumbar region." [https://orcid.org/0000-0002-0736-9199] synonym: "Exaggerated lumbar lordosis" EXACT [] synonym: "Excessive inward curvature of lower spine" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Increased lumbar lordosis" EXACT [] synonym: "Lumbar lordosis" EXACT [] synonym: "Prominent lumbar lordosis" EXACT [] xref: UMLS:C1184923 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0002943 name: Thoracic scoliosis alt_id: HP:0004615 xref: UMLS:C1857790 is_a: HP:0000765 ! Abnormal thorax morphology is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0002944 name: Thoracolumbar scoliosis alt_id: HP:0004567 alt_id: HP:0004585 synonym: "Scoliosis, thoracolumbar" EXACT [] xref: UMLS:C0749379 is_a: EFO:0004273 ! scoliosis is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0002970 name: Genu varum alt_id: HP:0003052 def: "A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Genu vara" EXACT [] synonym: "Genua vara" EXACT [] synonym: "Outward bow-leggedness" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Outward bowing at knees" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D056305 xref: SNOMEDCT_US:299331007 xref: UMLS:C0544755 is_a: HP:0002979 ! Bowing of the legs [Term] id: HP:0002979 name: Bowing of the legs alt_id: HP:0006428 def: "A bending or abnormal curvature affecting a long bone of the leg." [https://orcid.org/0000-0002-0736-9199] synonym: "Bow legs" EXACT [] synonym: "Bow-leggedness" EXACT [] synonym: "Bowed legs" EXACT layperson [] synonym: "Bowed lower limbs" EXACT layperson [] xref: MSH:D056305 xref: SNOMEDCT_US:299331007 xref: UMLS:C0544755 is_a: HP:0002814 ! Abnormality of the lower limb is_a: HP:0006487 ! Bowing of the long bones [Term] id: HP:0002980 name: Femoral bowing alt_id: HP:0004998 def: "Bowing (abnormal curvature) of the femur." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Bowed femur" EXACT [] synonym: "Bowed femura" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Bowed femurs" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Bowed thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1859461 is_a: HP:0002979 ! Bowing of the legs [Term] id: HP:0002986 name: Radial bowing alt_id: HP:0004996 def: "A bending or abnormal curvature of the radius." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Bowed radii" EXACT [] synonym: "Bowed radius" EXACT [] synonym: "Bowing of outer large bone of the forearm" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Bowing of radius bone of the forearm" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1859399 is_a: HP:0006487 ! Bowing of the long bones is_a: HP:0040070 ! Abnormal upper limb bone morphology [Term] id: HP:0002987 name: Elbow flexion contracture alt_id: HP:0003937 alt_id: HP:0004984 alt_id: HP:0005654 def: "An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position." [https://orcid.org/0000-0002-0736-9199] synonym: "Elbow flexion contractures" EXACT [] synonym: "Elbow flexion deformity" EXACT [] synonym: "Fixed flexion at the elbow joint" EXACT [] xref: SNOMEDCT_US:202271004 xref: UMLS:C0409338 is_a: HP:0003121 ! Limb joint contracture is_a: HP:0009810 ! Abnormality of upper limb joint [Term] id: HP:0002999 name: Patellar dislocation def: "The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove." [https://orcid.org/0000-0002-0736-9199] synonym: "Dislocated kneecap" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Dislocated patellae" EXACT [] synonym: "Dislocation of patella" EXACT [] xref: MSH:D031222 xref: SNOMEDCT_US:263029007 xref: UMLS:C1135812 is_a: HP:0001373 ! Joint dislocation is_a: HP:0002814 ! Abnormality of the lower limb [Term] id: HP:0003010 name: Prolonged bleeding time alt_id: HP:0008294 alt_id: HP:0008337 def: "Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding." [https://orcid.org/0000-0002-5523-511X] comment: The bleeding time test measures the time taken for blood vessel constriction and platelet plug formation to occur. No clot is allowed to form, so that the arrest of bleeding depends exclusively on blood vessel constriction and platelet action. To perform the test, pressure is maintained throughout the test by inflating a sphygmomanometer cuff on the upper arm. The dorsal surface of the forearm is then cleaned, and the bleeding time device placed onto the skin and the trigger is depressed. At 30-second intervals, the flow of blood is blotted with filter paper. The time from puncture to cessation of bleeding is then recorded as the bleeding time. Normal values depend on the device used and other parameters, but are around 2 to 9 minutes. synonym: "Increased bleeding time" EXACT [] synonym: "Prolonged bleeding time" EXACT layperson [] xref: UMLS:C0151529 is_a: HP:0001892 ! Abnormal bleeding [Term] id: HP:0003011 name: Abnormality of the musculature alt_id: HP:0003197 alt_id: HP:0003708 alt_id: HP:0040290 def: "Abnormality originating in one or more muscles, i.e., of the set of muscles of body." [https://orcid.org/0000-0002-0736-9199] synonym: "Muscular abnormality" EXACT layperson [] xref: ICD10:R29 xref: UMLS:C1843699 xref: UMLS:C4021745 is_a: HP:0000118 ! Phenotypic abnormality property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0003026 name: Short long bone alt_id: HP:0000949 alt_id: HP:0004983 alt_id: HP:0004988 alt_id: HP:0005000 alt_id: HP:0005029 alt_id: HP:0005044 alt_id: HP:0005052 alt_id: HP:0005077 alt_id: HP:0005083 alt_id: HP:0005647 alt_id: HP:0005822 alt_id: HP:0006382 alt_id: HP:0006457 alt_id: HP:0006472 def: "One or more abnormally short long bone." [https://orcid.org/0000-0002-0736-9199] comment: Long bones are also known as tubular bones. synonym: "Long bone shortening" EXACT layperson [] synonym: "Short long bone" EXACT layperson [] synonym: "Short tubular bones" EXACT [] synonym: "shortened long tubular bones" EXACT [] xref: UMLS:C1854912 is_a: HP:0011842 ! Abnormal skeletal morphology [Term] id: HP:0003031 name: Ulnar bowing alt_id: HP:0003983 def: "Bending of the diaphysis (shaft) of the ulna." [https://orcid.org/0000-0002-0736-9199] comment: Ulnar bowing is usually in the convex posterior direction. subset: hposlim_core synonym: "Bowed ulna" EXACT [] synonym: "Curved ulna" EXACT [] synonym: "Curving of inner forearm bone" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1865847 is_a: HP:0006487 ! Bowing of the long bones is_a: HP:0040070 ! Abnormal upper limb bone morphology [Term] id: HP:0003040 name: Arthropathy synonym: "Disease of the joints" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D007592 xref: SNOMEDCT_US:399269003 xref: UMLS:C0022408 is_a: HP:0011842 ! Abnormal skeletal morphology property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0003049 name: Ulnar deviation of the wrist synonym: "Ulnar deviation of wrists" EXACT [] xref: SNOMEDCT_US:43689004 xref: UMLS:C0231678 is_a: HP:0009810 ! Abnormality of upper limb joint [Term] id: HP:0003065 name: Patellar hypoplasia alt_id: HP:0005020 def: "Underdevelopment of the patella." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic patellae" EXACT [] synonym: "Small kneecap" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Small patella" EXACT [] synonym: "Small patellae" EXACT [] synonym: "Underdeveloped kneecap" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1840068 is_a: HP:0002814 ! Abnormality of the lower limb is_a: HP:0011842 ! Abnormal skeletal morphology [Term] id: HP:0003072 name: Hypercalcemia alt_id: HP:0008250 def: "An abnormally increased calcium concentration in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "High blood calcium levels" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Hypercalcaemia" EXACT [] synonym: "Increased calcium in blood" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: DOID:12678 xref: ICD9:275.42 xref: MeSH:D006934 xref: MSH:D006934 xref: NCIt:C3112 xref: SNOMEDCT:66931009 xref: SNOMEDCT_US:166702002 xref: SNOMEDCT_US:66931009 xref: UMLS:C0020437 is_a: HP:0004363 ! Abnormal circulating calcium concentration [Term] id: HP:0003073 name: Hypoalbuminemia def: "Reduction in the concentration of albumin in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoalbuminaemia" EXACT [] synonym: "Low albumin" BROAD layperson [] synonym: "Low blood albumin" EXACT layperson [] xref: MSH:D034141 xref: NCIt:C37972 xref: SNOMEDCT:119247004 xref: SNOMEDCT_US:119247004 xref: UMLS:C0239981 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0003074 name: Hyperglycemia def: "An increased concentration of glucose in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "High blood glucose" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "High blood sugar" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "hyperglycaemia" EXACT [] xref: DOID:4195 xref: MSH:D006943 xref: NCIt:C26797 xref: SNOMEDCT:80394007 xref: SNOMEDCT_US:237598005 xref: SNOMEDCT_US:80394007 xref: UMLS:C0020456 is_a: HP:0011015 ! Abnormal blood glucose concentration property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0003076 name: Glycosuria alt_id: HP:0003122 alt_id: HP:0011016 def: "An increased concentration of glucose in the urine." [HPO_CONTRIBUTOR:gcarletti] comment: Glycosuria, the excretion of abnormal amounts of glucose in the urine, generally results in osmotic diuresis. synonym: "Glucose in urine" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Glucosuria" EXACT [] xref: MSH:D006029 xref: SNOMEDCT_US:45154002 xref: UMLS:C0017979 is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0003086 name: Acromesomelia def: "Small hands and feet." [https://orcid.org/0000-0002-0736-9199, PMID:22286749] xref: UMLS:C1864365 is_a: HP:0009826 ! Limb undergrowth [Term] id: HP:0003108 name: Hyperglycinuria alt_id: HP:0002931 def: "An increased concentration of glycine in the urine." [HPO_CONTRIBUTOR:gcarletti, PMID:18901181, PMID:20240447] comment: Normal urinary glycine total (free and combined form) excretion is around 450 mg per 24 hours. synonym: "Glycinuria" EXACT [] synonym: "High urine glycine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:C563009 xref: SNOMEDCT_US:236477004 xref: UMLS:C0341706 xref: UMLS:C0543541 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003110 name: Abnormality of urine homeostasis alt_id: HP:0011865 alt_id: HP:0011866 def: "An abnormality of the composition of urine or the levels of its components." [https://orcid.org/0000-0002-0736-9199] synonym: "Pee issues" EXACT layperson [] synonym: "Urine issues" EXACT layperson [] xref: ICD10:R82 xref: UMLS:C4025655 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis is_a: HP:0011277 ! Abnormality of the urinary system physiology property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0003111 name: Abnormal blood ion concentration alt_id: HP:0003253 def: "Abnormality of the homeostasis (concentration) of a monoatomic ion." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of ion homeostasis" EXACT [] synonym: "Electrolyte disorders" EXACT layperson [] synonym: "Electrolyte disturbance" EXACT [] xref: SNOMEDCT_US:237840007 xref: UMLS:C1704431 xref: UMLS:C4025654 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0003115 name: Abnormal EKG def: "Abnormal rhythm of the heart." [] synonym: "Abnormal ECG" EXACT layperson [] synonym: "Abnormal EKG" EXACT layperson [] synonym: "Abnormal electrocardiogram" EXACT [] synonym: "EKG abnormality" EXACT abbreviation [] xref: SNOMEDCT_US:102594003 xref: UMLS:C0522055 is_a: HP:0030956 ! Abnormality of cardiovascular system electrophysiology property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0003117 name: Abnormal circulating hormone concentration def: "Concentration of a hormone in the blood circulation outside of normal limits." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal circulating hormone level" EXACT [] synonym: "Abnormality of circulating hormone level" EXACT layperson [] xref: UMLS:C4025652 is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0003119 name: Abnormal circulating lipid concentration alt_id: HP:0003611 def: "Any deviation from the normal concentration of a lipid in the blood circulation." [https://orcid.org/0000-0002-0736-9199] comment: According to CHEBI:18059 'Lipids' is a loosely defined term for substances of biological origin that are soluble in nonpolar solvents. They consist of saponifiable lipids, such as glycerides (fats and oils) and phospholipids, as well as nonsaponifiable lipids, principally steroids. synonym: "Dyslipidaemia" RELATED uk_spelling [] synonym: "Dyslipidemia" RELATED [] xref: MSH:D050171 xref: NCIt:C80385 xref: SNOMEDCT:370992007 xref: SNOMEDCT_US:370992007 xref: UMLS:C0242339 xref: UMLS:C4025650 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0003121 name: Limb joint contracture alt_id: HP:0005631 alt_id: HP:0005839 def: "A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs." [https://orcid.org/0000-0002-0736-9199] synonym: "Limb contractures" EXACT layperson [] xref: UMLS:C1969879 is_a: HP:0001371 ! Flexion contracture [Term] id: HP:0003124 name: Hypercholesterolemia alt_id: HP:0008154 alt_id: HP:0008173 alt_id: HP:0008359 def: "An increased concentration of cholesterol in the blood." [HPO_CONTRIBUTOR:gcarletti] synonym: "Elevated serum cholesterol" EXACT layperson [] synonym: "Elevated total cholesterol" EXACT layperson [] synonym: "High cholesterol" BROAD layperson [] synonym: "Increased total cholesterol" EXACT layperson [] xref: MSH:D006937 xref: NCIt:C37967 xref: SNOMEDCT:13644009 xref: SNOMEDCT_US:13644009 xref: SNOMEDCT_US:166830008 xref: UMLS:C0020443 xref: UMLS:C0595929 is_a: HP:0003119 ! Abnormal circulating lipid concentration property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0003127 name: Hypocalciuria def: "An abnormally decreased calcium concentration in the urine." [https://orcid.org/0000-0002-0736-9199] synonym: "Low urine calcium levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:86353007 xref: UMLS:C0020599 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003146 name: Hypocholesterolemia def: "An decreased concentration of cholesterol in the blood." [HPO_CONTRIBUTOR:gcarletti] synonym: "Decreased circulating cholesterol level" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT:61336008 xref: SNOMEDCT_US:61336008 xref: UMLS:C0151718 is_a: EFO:0001941 ! blood component is_a: HP:0003119 ! Abnormal circulating lipid concentration relationship: characteristic_of CHEBI:16113 ! cholesterol relationship: has_part PATO:0001163 ! decreased concentration relationship: part_of UBERON:0000178 ! blood relationship: towards PATO:0000460 ! abnormal property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0003150 name: Glutaric aciduria alt_id: HP:0003490 def: "The concentration of glutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal." [HPO_CONTRIBUTOR:gcarletti] synonym: "Glutarate aciduria" EXACT [https://orcid.org/0000-0001-9969-8610] synonym: "Glutaricaciduria" EXACT [] synonym: "Increased glutarate level in urine" EXACT [CHEBI:24329, https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:28987007 xref: UMLS:C0268594 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003154 name: Increased circulating ACTH level def: "An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "High blood corticotropin levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Increased circulating ACTH level" EXACT layperson [] synonym: "Increased plasma ACTH" EXACT [] xref: UMLS:C4021740 is_a: HP:0003117 ! Abnormal circulating hormone concentration [Term] id: HP:0003155 name: Elevated circulating alkaline phosphatase concentration alt_id: HP:0002911 alt_id: HP:0003636 alt_id: HP:0008296 def: "Abnormally increased serum levels of alkaline phosphatase activity." [https://orcid.org/0000-0002-0736-9199, PMID:29083622] synonym: "Elevated alkaline phosphatase" EXACT layperson [] synonym: "Elevated ALP" EXACT abbreviation [] synonym: "Greatly elevated alkaline phosphatase" EXACT layperson [] synonym: "High serum alkaline phosphatase" EXACT layperson [] synonym: "Hyperphosphatasemia" EXACT [] synonym: "Hyperphosphatasia" EXACT [https://orcid.org/0000-0002-0736-9199] synonym: "Increased alkaline phosphatase" EXACT layperson [] synonym: "Increased serum alkaline phosphatase" EXACT layperson [] xref: UMLS:C0750857 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0003163 name: Elevated urinary delta-aminolevulinic acid def: "An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine." [https://orcid.org/0000-0002-0736-9199] comment: Delta-aminolevulinic acid synthesis is a rate-controlling step in heme synthesis. synonym: "Elevated urinary delta-aminolevulinic acid" EXACT layperson [] xref: UMLS:C1848702 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003179 name: Protrusio acetabuli def: "Intrapelvic bulging of the medial acetabular wall." [https://orcid.org/0000-0002-0736-9199] comment: Protrusion of the acetabulum, which is the socket that together with the head of the femur forms the hip joint. The protrusion is the result of increased depth of the socket and results in medial displacement of the femoral head. subset: hposlim_core synonym: "Abnormally indented hip sockets" EXACT layperson [] synonym: "Protrusio acetabulae" EXACT [] xref: SNOMEDCT_US:59606006 xref: UMLS:C0409495 is_a: HP:0002814 ! Abnormality of the lower limb is_a: HP:0011842 ! Abnormal skeletal morphology [Term] id: HP:0003196 name: Short nose alt_id: HP:0000440 alt_id: HP:0000449 alt_id: HP:0000450 alt_id: HP:0003192 alt_id: HP:0003195 alt_id: HP:0005270 alt_id: HP:0200092 def: "Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip." [https://orcid.org/0000-0002-0736-9199, PMID:19152422] comment: Note: a small nose has both decreased height and a decreased width. These should be coded separately. subset: hposlim_core synonym: "Decreased length of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplastic nose" EXACT [] synonym: "Nasal hypoplasia" EXACT [] synonym: "Short nose" EXACT layperson [] synonym: "Shortened nose" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Small nose" RELATED layperson [] xref: SNOMEDCT_US:249310005 xref: UMLS:C0426414 xref: UMLS:C1854114 is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0003199 name: Decreased muscle mass alt_id: HP:0003732 synonym: "Decreased muscle mass" EXACT layperson [] xref: UMLS:C1837108 is_a: HP:0011805 ! Abnormal skeletal muscle morphology [Term] id: HP:0003202 name: Skeletal muscle atrophy alt_id: HP:0001299 alt_id: HP:0003545 alt_id: HP:0003671 alt_id: HP:0003702 alt_id: HP:0003746 alt_id: HP:0006995 alt_id: HP:0007171 alt_id: HP:0007356 alt_id: HP:0009010 alt_id: HP:0009048 alt_id: HP:0100868 def: "The presence of skeletal muscular atrophy (which is also known as amyotrophy)." [https://orcid.org/0000-0002-0736-9199] synonym: "Amyotrophy" EXACT [] synonym: "Amyotrophy involving the extremities" EXACT [] synonym: "Muscle atrophy" EXACT [] synonym: "Muscle atrophy, neurogenic" EXACT [] synonym: "Muscle degeneration" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Muscle hypotrophy" EXACT [] synonym: "Muscle wasting" EXACT layperson [] synonym: "Muscular atrophy" EXACT [] synonym: "Neurogenic muscle atrophy" EXACT [] synonym: "Neurogenic muscle atrophy, especially in the lower limbs" EXACT [] synonym: "Neurogenic muscular atrophy" EXACT [] xref: MSH:D009133 xref: SNOMEDCT_US:74035001 xref: UMLS:C0234958 xref: UMLS:C0270948 xref: UMLS:C0541794 xref: UMLS:C1843479 is_a: HP:0030236 ! Abnormality of muscle size [Term] id: HP:0003212 name: Increased circulating IgE level alt_id: HP:0005382 alt_id: HP:0005418 alt_id: HP:0005433 def: "An abnormally increased overall level of immunoglobulin E in blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Elevated immunoglobulin E" EXACT [] synonym: "Elevated serum IgE" EXACT [] synonym: "High immunoglobulin E" EXACT [] xref: UMLS:C0236175 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues is_a: HP:0002715 ! Abnormality of the immune system is_a: HP:0011017 ! Abnormal cellular physiology [Term] id: HP:0003228 name: Hypernatremia def: "An abnormally increased sodium concentration in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "High blood sodium levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D006955 xref: SNOMEDCT_US:286926003 xref: SNOMEDCT_US:39355002 xref: UMLS:C0020488 is_a: HP:0010931 ! Abnormal blood sodium concentration [Term] id: HP:0003231 name: Hypertyrosinemia def: "An increased concentration of tyrosine in the blood." [https://orcid.org/0000-0002-0736-9199] comment: Defect in fumarylacetoacetase. synonym: "Increased tyrosine in blood" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Tyrosinemia" EXACT [] xref: SNOMEDCT_US:56595005 xref: UMLS:C1879362 is_a: HP:0004338 ! Abnormal circulating aromatic amino acid concentration [Term] id: HP:0003234 name: Decreased circulating carnitine concentration def: "Concentration of carnitine in the blood circulation below the lower limit of normal." [HPO_CONTRIBUTOR:gcarletti] comment: Carnitine is responsible for the transport of fatty acids from the cytosol into the mitochondria. synonym: "Carnitine deficiency" RELATED layperson [] synonym: "Decreased plasma carnitine" EXACT layperson [] xref: SNOMEDCT_US:421784001 xref: UMLS:C1142132 is_a: HP:0003119 ! Abnormal circulating lipid concentration is_a: HP:0003287 ! Abnormality of mitochondrial metabolism is_a: HP:0004354 ! Abnormal circulating carboxylic acid concentration [Term] id: HP:0003236 name: Elevated circulating creatine kinase concentration alt_id: HP:0002147 alt_id: HP:0002906 alt_id: HP:0003078 alt_id: HP:0003525 alt_id: HP:0003531 alt_id: HP:0008164 def: "An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy." [https://orcid.org/0000-0002-0736-9199] comment: 'has part' some ('increased amount' and ('inheres in' some (IMR_0002602 and ('part of' some blood))) and ('has modifier' some abnormal)) synonym: "Elevated blood creatine phosphokinase" EXACT layperson [] synonym: "Elevated circulating creatine phosphokinase" EXACT layperson [] synonym: "Elevated creatine kinase" EXACT layperson [] synonym: "Elevated serum CPK" EXACT layperson [] synonym: "Elevated serum creatine kinase" EXACT layperson [] synonym: "Elevated serum creatine phosphokinase" EXACT layperson [] synonym: "High serum creatine kinase" EXACT layperson [] synonym: "Increased CPK" EXACT layperson [] synonym: "Increased creatine kinase" EXACT layperson [] synonym: "Increased creatine phosphokinase" EXACT layperson [] synonym: "Increased serum CK" EXACT layperson [] synonym: "Increased serum creatine kinase" EXACT layperson [] synonym: "Increased serum creatine phosphokinase" EXACT layperson [] xref: UMLS:C0151576 xref: UMLS:C0241005 is_a: HP:0004364 ! Abnormal circulating nitrogen compound concentration [Term] id: HP:0003244 name: Penile hypospadias def: "Location of the urethral opening on the inferior aspect of the penis." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:204888000 xref: UMLS:C1691215 is_a: HP:0000078 ! Abnormality of the genital system is_a: HP:0000079 ! Abnormality of the urinary system [Term] id: HP:0003269 name: Sudanophilic leukodystrophy xref: MSH:D020371 xref: SNOMEDCT_US:64855000 xref: UMLS:C0205711 is_a: HP:0002011 ! Morphological central nervous system abnormality is_a: HP:0012447 ! Abnormal myelination [Term] id: HP:0003270 name: Abdominal distention alt_id: HP:0001542 alt_id: HP:0003364 def: "Distention of the abdomen." [https://orcid.org/0000-0002-0736-9199] comment: Abdominal distention can be a secondary feature associated with a number of conditions such as bowel obstruction. subset: hposlim_core synonym: "Abdominal bloating" EXACT layperson [] synonym: "Abdominal distension" EXACT [] synonym: "Abdominal swelling" EXACT layperson [] synonym: "Belly bloating" EXACT layperson [] synonym: "Bloating" EXACT layperson [] synonym: "Distended abdomen" EXACT [] xref: NCIt:C78161 xref: SNOMEDCT:41931001 xref: SNOMEDCT_US:41931001 xref: SNOMEDCT_US:60728008 xref: UMLS:C0000731 is_a: HP:0011458 ! Abdominal symptom property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0003274 name: Hypoplastic acetabulae def: "Underdeveloped acetabulae." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Acetabular hypoplasia" EXACT [] synonym: "Hypoplastic acetabula" EXACT [] xref: UMLS:C1846442 is_a: HP:0002814 ! Abnormality of the lower limb is_a: HP:0011842 ! Abnormal skeletal morphology [Term] id: HP:0003282 name: Low alkaline phosphatase def: "Abnormally reduced serum levels of alkaline phosphatase." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased serum alkaline phosphatase" EXACT layperson [] synonym: "Low ALP" EXACT abbreviation [] xref: UMLS:C1860130 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0003287 name: Abnormality of mitochondrial metabolism def: "A functional anomaly of mitochondria." [https://orcid.org/0000-0001-5208-3432] synonym: "Mitochondrial dysfunction" EXACT [] xref: UMLS:C4021734 is_a: HP:0012103 ! Abnormality of the mitochondrion [Term] id: HP:0003298 name: Spina bifida occulta def: "The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin." [https://orcid.org/0000-0002-0736-9199] comment: May be asymptomatic. subset: hposlim_core xref: MSH:D016136 xref: SNOMEDCT_US:76916001 xref: UMLS:C0080174 is_a: HP:0002011 ! Morphological central nervous system abnormality [Term] id: HP:0003306 name: Spinal rigidity def: "Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion." [https://orcid.org/0000-0002-0736-9199, PMID:11601420, PMID:2246660] synonym: "Reduced spine movement" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Rigid spine" EXACT [] xref: UMLS:C1858025 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003319 name: Abnormality of the cervical spine alt_id: HP:0004587 def: "Any abnormality of the cervical vertebral column." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal cervical spine" EXACT layperson [] synonym: "Abnormality of cervical vertebra" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the cervical vertebrae" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Cervical spine abnormalities" EXACT [] synonym: "Cervical vertebral abnormalities" EXACT [] synonym: "Cervical vertebral anomalies" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Disorder of cervical vertebra" EXACT [] xref: UMLS:C1852464 is_a: HP:0000925 ! Abnormality of the vertebral column property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0003323 name: Progressive muscle weakness alt_id: HP:0009032 synonym: "Muscle weakness, progressive" EXACT [] synonym: "Progressive muscular weakness" EXACT [] xref: UMLS:C0240421 is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003325 name: Limb-girdle muscle weakness alt_id: HP:0008971 def: "Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis." [https://orcid.org/0000-0002-0736-9199] synonym: "Limb girdle weakness" EXACT [] synonym: "Muscle weakness, limb-girdle" EXACT [] synonym: "Muscular weakness, limb-girdle" EXACT [] xref: UMLS:C1858127 is_a: HP:0001324 ! Muscle weakness is_a: HP:0011805 ! Abnormal skeletal muscle morphology is_a: HP:0040064 ! Abnormality of limbs [Term] id: HP:0003326 name: Myalgia alt_id: HP:0003718 def: "Pain in muscle." [https://orcid.org/0000-0002-0736-9199] synonym: "Muscle ache" EXACT layperson [https://orcid.org/0000-0002-0736-9199] synonym: "Muscle pain" EXACT layperson [https://orcid.org/0000-0002-0736-9199] synonym: "Myalgias" RELATED plural_form [https://orcid.org/0000-0002-5316-1399] xref: MSH:D063806 xref: NCIt:C27009 xref: SNOMEDCT_US:68962001 xref: UMLS:C0231528 xref: UMLS:C1963177 is_a: HP:0025142 ! Constitutional symptom property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0003376 name: Steppage gait def: "An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again." [https://orcid.org/0000-0002-0736-9199, PMID:27770207] synonym: "High stepping" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D020233 xref: SNOMEDCT_US:27253007 xref: UMLS:C0427149 is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0003390 name: Sensory axonal neuropathy alt_id: HP:0006883 alt_id: HP:0007248 alt_id: HP:0007345 def: "An axonal neuropathy of peripheral sensory nerves." [https://orcid.org/0000-0002-0736-9199] synonym: "Axonal sensory neuropathy" EXACT [] synonym: "Peripheral sensory axonal neuropathy" RELATED [] xref: UMLS:C1842587 xref: UMLS:C1970883 is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0003394 name: Muscle spasm alt_id: HP:0009018 alt_id: HP:0031988 def: "Sudden and involuntary contractions of one or more muscles." [https://orcid.org/0000-0002-0736-9199] synonym: "Muscle cramps" EXACT plural_form [] xref: MSH:D009120 xref: SNOMEDCT_US:55300003 xref: UMLS:C0026821 is_a: HP:0011804 ! Abnormal muscle physiology [Term] id: HP:0003401 name: Paresthesia alt_id: HP:0002082 def: "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [https://orcid.org/0000-0002-0736-9199] synonym: "Paresthesias" EXACT [] synonym: "Pins and needles feeling" EXACT layperson [] synonym: "Tingling" EXACT layperson [] xref: MSH:D010292 xref: SNOMEDCT_US:91019004 xref: UMLS:C0030554 is_a: HP:0003474 ! Somatic sensory dysfunction property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0003418 name: Back pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back." [] synonym: "Back pain" EXACT layperson [] xref: MSH:D001416 xref: SNOMEDCT_US:161891005 xref: UMLS:C0004604 is_a: EFO:0003843 ! pain is_a: HP:0000925 ! Abnormality of the vertebral column is_a: HP:0025142 ! Constitutional symptom property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0003419 name: Low back pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back." [] synonym: "LBP" EXACT [] synonym: "Lower back pain" EXACT [] synonym: "Lumbago" EXACT layperson [] xref: MSH:D017116 xref: SNOMEDCT_US:279039007 xref: UMLS:C0024031 is_a: HP:0003418 ! Back pain property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0003429 name: CNS hypomyelination def: "Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:111007000 xref: UMLS:C0544820 xref: UMLS:C4025616 is_a: HP:0002011 ! Morphological central nervous system abnormality is_a: HP:0012447 ! Abnormal myelination [Term] id: HP:0003445 name: EMG: neuropathic changes alt_id: HP:0002178 alt_id: HP:0002547 alt_id: HP:0007279 def: "The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials)." [https://orcid.org/0000-0002-0736-9199] comment: This is a bundled term. It is preferable to annotate the precise clinical observations, but the term is kept now for convenience. synonym: "EMG: neurogenic abnormalities" EXACT [] synonym: "EMG: neurogenic changes" EXACT [] synonym: "EMG: neurogenic findings" EXACT [] xref: UMLS:C4021727 is_a: HP:0003457 ! EMG abnormality [Term] id: HP:0003457 name: EMG abnormality alt_id: HP:0002177 alt_id: HP:0003751 alt_id: HP:0003753 alt_id: HP:0100286 def: "Abnormal results of investigations using electromyography (EMG)." [https://orcid.org/0000-0002-0736-9199, PMID:15961866, PMID:18751841] synonym: "Abnormal electromyography finding" EXACT [] synonym: "Abnormal EMG" EXACT [] synonym: "Electromyogram abnormal" EXACT [] synonym: "EMG abnormalities" EXACT [] xref: SNOMEDCT_US:274523007 xref: UMLS:C0476403 is_a: HP:0011804 ! Abnormal muscle physiology [Term] id: HP:0003458 name: EMG: myopathic abnormalities alt_id: HP:0003322 alt_id: HP:0003711 alt_id: HP:0009021 def: "The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials." [https://orcid.org/0000-0002-0736-9199] synonym: "EMG: myopathic changes" EXACT [] synonym: "EMG: myopathy" EXACT [] synonym: "Myopathic electromyogram" EXACT [] xref: UMLS:C4021726 is_a: HP:0003457 ! EMG abnormality is_a: HP:0011805 ! Abnormal skeletal muscle morphology [Term] id: HP:0003470 name: Paralysis def: "Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement." [https://orcid.org/0000-0002-0736-9199] synonym: "Inability to move" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Paralysis" EXACT layperson [] xref: MSH:D010243 xref: SNOMEDCT_US:44695005 xref: UMLS:C0522224 is_a: HP:0011442 ! Abnormal central motor function [Term] id: HP:0003474 name: Somatic sensory dysfunction alt_id: HP:0100964 def: "An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing." [https://orcid.org/0000-0002-0736-9199] comment: This term does not include abnormalities of cortical sensation such as two-point discrimination, stereognosis, and graphesthesia. synonym: "Sensory impairment" EXACT [] xref: MSH:D006987 xref: SNOMEDCT_US:397974008 xref: SNOMEDCT_US:398026008 xref: SNOMEDCT_US:59073000 xref: UMLS:C0020580 is_a: HP:0012638 ! Abnormal nervous system physiology property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0003482 name: EMG: axonal abnormality def: "Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials." [https://orcid.org/0000-0002-0736-9199] comment: This is a bundled term that is kept for convenience. It is preferable to record the precise clinical observations. xref: UMLS:C4025609 is_a: HP:0003457 ! EMG abnormality [Term] id: HP:0003487 name: Babinski sign alt_id: HP:0001352 def: "Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract." [https://orcid.org/0000-0002-0736-9199] comment: A positive Babinski sign can indicate damage to the corticospinal tract. synonym: "Extensor plantar reflexes" EXACT [] synonym: "Extensor plantar response" EXACT [] synonym: "Extensor plantar responses" EXACT [] synonym: "Positive Babinski sign" EXACT [] xref: SNOMEDCT_US:246586009 xref: SNOMEDCT_US:366575004 xref: UMLS:C0034935 is_a: HP:0007256 ! Abnormal pyramidal sign is_a: HP:0031826 ! Abnormal reflex [Term] id: HP:0003489 name: Acute episodes of neuropathic symptoms comment: Neuropathic symptoms include numbness, dysesthesias, and a characteristic form of pain (neuralgia). xref: UMLS:C1867971 is_a: HP:0012638 ! Abnormal nervous system physiology [Term] id: HP:0003508 name: Proportionate short stature alt_id: HP:0003499 def: "A kind of short stature in which different regions of the body are shortened to a comparable extent." [https://orcid.org/0000-0002-0736-9199] synonym: "Proportionate small stature" EXACT [] synonym: "Short stature, proportionate" EXACT [] xref: UMLS:C0878660 is_a: HP:0004322 ! Short stature [Term] id: HP:0003521 name: Disproportionate short-trunk short stature alt_id: HP:0001524 alt_id: HP:0003500 alt_id: HP:0008923 def: "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs." [https://orcid.org/0000-0002-0736-9199] synonym: "Disproportionate short-trunked dwarfism" EXACT layperson [] synonym: "Disproportionate short-trunked short stature" EXACT layperson [] synonym: "Short-trunked dwarfism" EXACT layperson [] xref: UMLS:C1846435 is_a: HP:0004322 ! Short stature is_a: HP:0011842 ! Abnormal skeletal morphology [Term] id: HP:0003530 name: Elevated circulating glutaric acid concentration def: "An increased concentration of glutaric acid in the blood." [HPO_CONTRIBUTOR:gcarletti] synonym: "Glutarate acidemia" EXACT [https://orcid.org/0000-0001-9969-8610] synonym: "Glutaric acidemia" EXACT [] xref: UMLS:C4025603 is_a: EFO:1000014 ! acidosis is_a: HP:0004354 ! Abnormal circulating carboxylic acid concentration [Term] id: HP:0003546 name: Exercise intolerance def: "A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender." [PMID:10617757] synonym: "Decreased ability to exercise" EXACT layperson [https://orcid.org/0000-0002-6548-5200, PMID:10617757] synonym: "Inability to exercise" EXACT layperson [https://orcid.org/0000-0002-6548-5200, PMID:10617757] synonym: "Low exercise endurance" EXACT [] synonym: "Poor exercise tolerance" EXACT [] xref: SNOMEDCT_US:267044007 xref: UMLS:C0424551 is_a: HP:0011804 ! Abnormal muscle physiology is_a: HP:0025142 ! Constitutional symptom [Term] id: HP:0003547 name: Shoulder girdle muscle weakness alt_id: HP:0003695 alt_id: HP:0009009 def: "The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders." [https://orcid.org/0000-0002-0736-9199] synonym: "Muscle weakness, shoulder-girdle" EXACT [] synonym: "Shoulder girdle weakness" EXACT [] synonym: "Shoulder weakness" EXACT [] synonym: "Weak shoulder muscles" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:249940002 xref: UMLS:C0427063 xref: UMLS:C0748691 is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0003325 ! Limb-girdle muscle weakness [Term] id: HP:0003549 name: Abnormality of connective tissue def: "Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat)." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025596 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0003565 name: Elevated erythrocyte sedimentation rate def: "An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen." [PMID:10524488] synonym: "Elevated ESR" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961] synonym: "Elevated sedimentation rate" EXACT [] synonym: "High erythrocyte sedimentation rate" EXACT [] synonym: "High ESR" EXACT layperson [] synonym: "Increased erythrocyte sedimentation rate" EXACT [] synonym: "Raised erythrocyte sedimentation rate" EXACT [] xref: SNOMEDCT_US:165468009 xref: UMLS:C0151632 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0003614 name: Trimethylaminuria def: "Increased concentration of trimethylamine in the urine." [https://orcid.org/0000-0002-0736-9199] comment: Increased concentration of trimethylamine, an organic amino compound with an oder characterized as that of rotting fish, in the urine. Trimethylaminuria is generally caused by impaired oxidation of trimethylamine into the odorless compound trimethylamine N-oxide. synonym: "High urine trimethylamine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:C536561 xref: SNOMEDCT_US:237959005 xref: UMLS:C0342739 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003674 name: Onset alt_id: HP:0003588 alt_id: HP:0003590 alt_id: HP:0003597 alt_id: HP:0003602 alt_id: HP:0003603 alt_id: HP:0003618 alt_id: HP:0003626 alt_id: HP:0003628 alt_id: HP:0003630 alt_id: HP:0003663 alt_id: HP:0003664 alt_id: HP:0003668 alt_id: HP:0011007 def: "The age group in which disease manifestations appear." [https://orcid.org/0000-0002-0736-9199] comment: Adolescent is defined by WHO as a person between 10-19 years of age. synonym: "Age of onset" EXACT [] synonym: "Age symptoms begin" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MeSH:D017668 xref: MSH:D017668 xref: UMLS:C0206132 is_a: EFO:0004949 ! clinical temporal measurement [Term] id: HP:0003690 name: Limb muscle weakness alt_id: HP:0002534 def: "Reduced strength and weakness of the muscles of the arms and legs." [https://orcid.org/0009-0006-4530-3154] synonym: "Limb muscle weakness" EXACT layperson [] synonym: "Limb weakness" EXACT layperson [] xref: SNOMEDCT_US:713514005 xref: UMLS:C0587246 is_a: HP:0001324 ! Muscle weakness is_a: HP:0011805 ! Abnormal skeletal muscle morphology is_a: HP:0040064 ! Abnormality of limbs [Term] id: HP:0003698 name: Difficulty standing synonym: "Difficulty in standing" EXACT layperson [] synonym: "Standing instability" EXACT [] xref: SNOMEDCT_US:249902000 xref: UMLS:C0241237 is_a: HP:0011804 ! Abnormal muscle physiology [Term] id: HP:0003710 name: Exercise-induced muscle cramps alt_id: HP:0008983 alt_id: HP:0009000 def: "Sudden and involuntary contractions of one or more muscles brought on by physical exertion." [https://orcid.org/0000-0002-0736-9199] synonym: "Exercise-induced muscle cramping" EXACT layperson [] synonym: "Exercise-induced muscle cramps" EXACT layperson [] synonym: "Muscle cramps following exercise" EXACT layperson [] synonym: "Muscle cramps on exercise" EXACT layperson [] synonym: "Muscle cramps on exertion" EXACT layperson [] synonym: "Muscle cramps with exertion" EXACT layperson [] xref: UMLS:C1855578 is_a: HP:0003394 ! Muscle spasm [Term] id: HP:0003720 name: Generalized muscle hypertrophy def: "Hypertrophy (increase in size) of muscle tissue in a generalized (not localized) distribution." [https://orcid.org/0000-0002-0736-9199] synonym: "Generalised increase in muscle cell size" EXACT uk_spelling [] synonym: "Generalised muscle hypertrophy" EXACT uk_spelling [] synonym: "Generalized increase in muscle cell size" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C3805639 is_a: HP:0030236 ! Abnormality of muscle size [Term] id: HP:0003738 name: Exercise-induced myalgia def: "The occurrence of an unusually high amount of muscle pain following exercise." [https://orcid.org/0000-0002-0736-9199] synonym: "Exercise-induced muscle pain" EXACT layperson [] synonym: "Muscle pain on exercise" EXACT layperson [] synonym: "Muscle pain with exercise" EXACT layperson [] synonym: "Muscle pain, exercise-induced" EXACT layperson [] xref: UMLS:C1850830 is_a: HP:0003326 ! Myalgia [Term] id: HP:0003749 name: Pelvic girdle muscle weakness alt_id: HP:0003692 alt_id: HP:0008999 alt_id: HP:0009036 def: "Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis." [https://orcid.org/0000-0002-0736-9199] synonym: "Hip girdle muscle weakness" EXACT [] synonym: "Hip girdle weakness" EXACT [] synonym: "Hip-girdle muscle weakness" EXACT [] synonym: "Pelvic girdle weakness" EXACT [] xref: SNOMEDCT_US:249941003 xref: UMLS:C0427064 is_a: HP:0003325 ! Limb-girdle muscle weakness [Term] id: HP:0003752 name: Episodic flaccid weakness def: "Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025572 is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003756 name: Skeletal myopathy xref: SNOMEDCT_US:75047002 xref: UMLS:C1533847 is_a: EFO:0004145 ! myopathy is_a: HP:0011805 ! Abnormal skeletal muscle morphology [Term] id: HP:0003789 name: Minicore myopathy alt_id: HP:0003804 def: "Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers." [https://orcid.org/0000-0002-0736-9199] xref: MSH:C564969 xref: UMLS:C1850674 is_a: HP:0011805 ! Abnormal skeletal muscle morphology [Term] id: HP:0003805 name: Rimmed vacuoles alt_id: HP:0009029 def: "Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions." [https://orcid.org/0000-0002-0736-9199] comment: Rimmed vacuoles are characteristic for inclusion-bosy myositis, but are also seen an a number of other diseases. This term implies that rimmed vacuoles are found histologically. In some cases, the majority of muscle fibers are involved, but in others, rimmed vacuoles can be found in only a minority of fibers. synonym: "Rimmed vacuoles on biopsy" EXACT [] xref: UMLS:C1853932 is_a: HP:0011805 ! Abnormal skeletal muscle morphology [Term] id: HP:0003808 name: Abnormal muscle tone synonym: "Abnormal muscle tone" EXACT layperson [] xref: UMLS:C0852413 is_a: HP:0011804 ! Abnormal muscle physiology [Term] id: HP:0003811 name: Neonatal death alt_id: HP:0003820 alt_id: HP:0003824 def: "Death within the first 28 days of life." [https://orcid.org/0000-0002-0736-9199] synonym: "Neonatal lethal" EXACT layperson [] xref: MSH:D066087 xref: SNOMEDCT_US:276506001 xref: UMLS:C0410916 is_a: EFO:0004352 ! mortality [Term] id: HP:0003826 name: Stillbirth alt_id: HP:0001624 alt_id: HP:0001625 def: "Death of the fetus in utero after at least 22 weeks of gestation." [https://orcid.org/0000-0002-0736-9199] comment: The age at which fetal demise is legally classified asa a miscarriage varies between countries with the US being 20 gestational weeks and the UK being 24 gestational weeks. The HPO chooses the average of these age ranges. synonym: "Fetal death" RELATED layperson [] synonym: "Fetal demise" RELATED [] synonym: "Foetal death" RELATED uk_spelling [] synonym: "Foetal demise" RELATED uk_spelling [] synonym: "Late fetal death" EXACT [] synonym: "Late foetal death" EXACT uk_spelling [] synonym: "Stillbirth" EXACT layperson [] synonym: "Stillborn" EXACT layperson [] xref: MSH:D005313 xref: MSH:D050497 xref: SNOMEDCT_US:237364002 xref: SNOMEDCT_US:276507005 xref: UMLS:C0015927 xref: UMLS:C0595939 is_a: HP:0034241 ! Prenatal death [Term] id: HP:0003865 name: Bowed humerus def: "A bending or abnormal curvature of the humerus." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Bowed long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Bowing of the humerus" EXACT [] synonym: "Humeral bowing" EXACT [] xref: UMLS:C1859460 is_a: HP:0006487 ! Bowing of the long bones is_a: HP:0040070 ! Abnormal upper limb bone morphology [Term] id: HP:0004060 name: Trident hand def: "A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits." [https://orcid.org/0000-0002-0736-9199] comment: This abnormality is often seen in patients with achondroplasia. subset: hposlim_core synonym: "trident abnormality" EXACT [] synonym: "trident deformity" EXACT [] xref: SNOMEDCT_US:249755001 xref: UMLS:C0426874 is_a: HP:0001167 ! Abnormal finger morphology [Term] id: HP:0004209 name: Clinodactyly of the 5th finger alt_id: HP:0001158 alt_id: HP:0001588 alt_id: HP:0004212 alt_id: HP:0006083 alt_id: HP:0006181 alt_id: HP:0009181 def: "Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger)." [https://orcid.org/0000-0002-0736-9199, PMID:16252026] comment: Minor degrees of curvature of the small finger are so common as to be considered normal. synonym: "Bilateral fifth digit clinodactyly" EXACT [] synonym: "Bilateral fifth finger clinodactyly" EXACT [] synonym: "Clinodactyly of fifth digit" EXACT [] synonym: "Clinodactyly of the little finger" EXACT [] synonym: "Curvature of little finger" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Curvature of pinkie finger" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Curvature of pinky finger" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Fifth finger clinodactyly" EXACT [] synonym: "Permanent curving of the pinkie finger" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1850049 xref: UMLS:C4280538 is_a: HP:0040019 ! Finger clinodactyly [Term] id: HP:0004277 name: Fractured hand bones alt_id: HP:0041232 synonym: "Broken hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Fractured hand bones" EXACT layperson [] xref: SNOMEDCT_US:20511007 xref: UMLS:C0435632 is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0011842 ! Abnormal skeletal morphology [Term] id: HP:0004296 name: Abnormal gastrointestinal vascular morphology synonym: "Abnormality of gastrointestinal vasculature" EXACT [] synonym: "Abnormality of GI blood vessels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of GI vasculature" EXACT abbreviation [] xref: UMLS:C4025361 is_a: HP:0002597 ! Abnormality of the vasculature is_a: HP:0012718 ! Abnormal gastrointestinal tract morphology is_a: HP:0030680 ! Abnormal cardiovascular system morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-20T11:24:00Z [Term] id: HP:0004299 name: Hernia of the abdominal wall def: "The presence of a hernia in the abdominal wall." [https://orcid.org/0000-0002-0736-9199] comment: A hernia refers to a sac formed by the lining of the abdominal cavity (peritoneum). The sac can protrude through a hole or weak area in the abdominal fascia. subset: hposlim_core synonym: "Herniated abdominal wall" EXACT [https://orcid.org/0000-0001-5208-3432] xref: Fyler:4414 xref: ICD10:K46 xref: NCIt:C98700 xref: SNOMEDCT_US:128545000 xref: UMLS:C0178282 xref: UMLS:C1442978 is_a: HP:0025031 ! Abnormality of the digestive system is_a: HP:0100790 ! Hernia property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-20T11:42:00Z [Term] id: HP:0004308 name: Ventricular arrhythmia synonym: "Ventricular arrhythmias" EXACT [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:44103008 xref: UMLS:C0085612 is_a: HP:0030956 ! Abnormality of cardiovascular system electrophysiology property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-20T01:28:00Z [Term] id: HP:0004322 name: Short stature alt_id: HP:0001509 alt_id: HP:0003501 alt_id: HP:0003507 alt_id: HP:0003512 alt_id: HP:0003518 alt_id: HP:0003519 alt_id: HP:0008871 alt_id: HP:0008882 alt_id: HP:0008888 alt_id: HP:0008913 def: "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased body height" EXACT layperson [] synonym: "Height less than 3rd percentile" EXACT [] synonym: "Short stature" EXACT layperson [] synonym: "Small stature" EXACT layperson [] synonym: "Stature below 3rd percentile" EXACT [] xref: SNOMEDCT_US:237836003 xref: UMLS:C0349588 is_a: HP:0001510 ! Growth delay property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-27T03:19:00Z [Term] id: HP:0004323 name: Abnormality of body weight alt_id: HP:0010718 def: "An abnormal increase or decrease of weight or an abnormal distribution of mass in the body." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of body weight" EXACT layperson [] synonym: "Abnormality of habitus" RELATED [] xref: UMLS:C0878621 xref: UMLS:C4025357 is_a: HP:0001507 ! Growth abnormality property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-27T03:21:00Z [Term] id: HP:0004324 name: Increased body weight alt_id: HP:0045083 def: "Abnormally increased body weight." [] synonym: "Increased body weight" EXACT layperson [] synonym: "Weight gain" RELATED layperson [] xref: MSH:D015430 xref: SNOMEDCT_US:161831008 xref: SNOMEDCT_US:262286000 xref: SNOMEDCT_US:8943002 xref: UMLS:C0043094 is_a: HP:0004323 ! Abnormality of body weight property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-27T03:21:00Z [Term] id: HP:0004325 name: Decreased body weight alt_id: HP:0001823 alt_id: HP:0001826 def: "Abnormally low body weight." [] synonym: "Decreased body weight" EXACT layperson [] synonym: "Decreased weight" EXACT layperson [] synonym: "Low body weight" EXACT layperson [] synonym: "Low weight" EXACT layperson [] synonym: "Weight less than 3rd percentile" EXACT layperson [] xref: MSH:D013851 xref: MSH:D015431 xref: SNOMEDCT_US:161832001 xref: SNOMEDCT_US:248342006 xref: SNOMEDCT_US:262285001 xref: SNOMEDCT_US:89362005 xref: UMLS:C0041667 xref: UMLS:C1262477 xref: UMLS:C1844806 is_a: HP:0004323 ! Abnormality of body weight property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-27T03:22:00Z [Term] id: HP:0004326 name: Cachexia def: "Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease." [https://orcid.org/0000-0002-0736-9199] synonym: "Wasting syndrome" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D002100 xref: SNOMEDCT_US:238108007 xref: SNOMEDCT_US:285384003 xref: UMLS:C0006625 is_a: HP:0001824 ! Weight loss property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-27T03:23:00Z [Term] id: HP:0004329 name: Abnormal posterior eye segment morphology comment: The posterior segment comprises the anterior hyaloid membrane and all of the optical structures behind it: the vitreous humor, retina, choroid, and optic nerve. synonym: "Abnormal morphology of the posterior segment of the globe" EXACT [] synonym: "Abnormality of the posterior segment of the eye" EXACT [] synonym: "Abnormality of the posterior segment of the eyeball" EXACT [] synonym: "Abnormality of the posterior segment of the globe" EXACT [] xref: ICD10:Q14 xref: UMLS:C4025354 is_a: HP:0000478 ! Abnormality of the eye property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-27T04:25:00Z [Term] id: HP:0004338 name: Abnormal circulating aromatic amino acid concentration def: "Any deviation from the normal concentration of a aromatic amino acid in the blood circulation." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of aromatic amino acid family metabolism" EXACT [] xref: UMLS:C4025352 is_a: HP:0004354 ! Abnormal circulating carboxylic acid concentration property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-08T07:55:00Z [Term] id: HP:0004348 name: Abnormality of bone mineral density def: "This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of bone mineralisation and ossification" EXACT [] xref: UMLS:C4021657 is_a: HP:0011842 ! Abnormal skeletal morphology property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-11T08:10:00Z [Term] id: HP:0004349 name: Reduced bone mineral density def: "A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones." [https://orcid.org/0009-0006-4530-3154] synonym: "Decreased bone mineral density" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Decreased bone mineral density Z score" EXACT [] synonym: "Low solidness and mass of the bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: UMLS:C2674432 is_a: HP:0004348 ! Abnormality of bone mineral density property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-11T08:10:00Z [Term] id: HP:0004354 name: Abnormal circulating carboxylic acid concentration def: "Any deviation from the normal concentration of a carboxylic acid in the blood circulation." [HPO_CONTRIBUTOR:gcarletti] comment: Carboxylic acid refers to an organic compound that contains a carboxyl group (-COOH). xref: UMLS:C4025344 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-17T01:11:00Z [Term] id: HP:0004363 name: Abnormal circulating calcium concentration alt_id: HP:0040077 def: "Any deviation from the normal concentration of calcium in the blood circulation." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal blood calcium concentration" EXACT [https://orcid.org/0000-0001-7941-2961] synonym: "Abnormal blood calcium levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormal circulating Ca concentration" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961] synonym: "Abnormal circulating Ca2+ concentration" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961] xref: UMLS:C0006705 is_a: HP:0003111 ! Abnormal blood ion concentration property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-17T04:15:00Z [Term] id: HP:0004364 name: Abnormal circulating nitrogen compound concentration def: "Any deviation from the normal concentration of a nitrogen compound in the blood circulation." [HPO_CONTRIBUTOR:gcarletti] comment: Ammonia (NH3), one of the most clinically important nitrogen compounds in human metabolism, is a substance containing nitrogen resulting from the catabolism of protein. It is converted to the less toxic substance urea prior to excretion in urine. xref: UMLS:C4025336 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-17T04:51:00Z [Term] id: HP:0004367 name: obsolete Abnormality of glycoprotein metabolism xref: ICD10:E77 xref: UMLS:C4025333 is_obsolete: true replaced_by: HP:0001939 [Term] id: HP:0004370 name: Abnormality of temperature regulation def: "An abnormality of temperature homeostasis." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of temperature regulation" EXACT layperson [] synonym: "Body temperature changes" RELATED layperson [] synonym: "Poor temperature regulation" EXACT layperson [] xref: MSH:D001832 xref: UMLS:C0005904 xref: UMLS:C1832160 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T06:34:00Z [Term] id: HP:0004371 name: Abnormality of glycosaminoglycan metabolism def: "Abnormality of glycosaminoglycan metabolism." [https://orcid.org/0000-0002-0736-9199] comment: A glycosaminoglycan is any polysaccharide containing a substantial proportion of aminomonosaccharide residues. Glycosaminoglycan (GAG) are long unbranched polysaccharides consisting of a repeating disaccharide unit. Among the most common GAGs are chondroitin sulfate, dermatan sulfate, chondroitin sulfate, keratan sulfate, heparan sulfate, and hyaluronan. xref: ICD10:E76 xref: UMLS:C4025330 is_a: HP:0011017 ! Abnormal cellular physiology property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T06:36:00Z [Term] id: HP:0004372 name: Reduced consciousness def: "Abnormally diminished level of attention, responsiveness, or wakefulness." [] synonym: "Disturbances of consciousness" EXACT layperson [] synonym: "Lowered consciousness" EXACT layperson [] synonym: "Reduced consciousness/confusion" EXACT layperson [] xref: SNOMEDCT_US:3006004 xref: UMLS:C0234428 is_a: HP:0011446 ! Abnormality of mental function property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-6262-8264 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9446-5121 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-1592-0825 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4672-4923 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-5554-6946 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7367-663X property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T07:12:00Z [Term] id: HP:0004378 name: Abnormality of the anus def: "Abnormality of the anal canal." [https://orcid.org/0000-0002-0736-9199] comment: The anal canal is continuous proximally with the rectum and distally terminates with the anus. synonym: "Abnormality of the anus" EXACT layperson [] xref: UMLS:C4025329 is_a: HP:0025031 ! Abnormality of the digestive system property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T08:11:00Z [Term] id: HP:0004386 name: Gastrointestinal inflammation def: "Inflammation of the alimentary part of the gastrointestinal system." [] synonym: "Gastrointestinal inflammation" EXACT layperson [] synonym: "GI inflammation" EXACT abbreviation [] xref: UMLS:C1535950 is_a: HP:0012649 ! Increased inflammatory response is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:01:00Z [Term] id: HP:0004398 name: Peptic ulcer def: "The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the oesophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers." [https://orcid.org/0000-0002-0736-9199, PMID:28242110] comment: Symptoms of peptic ulcer disease have limited predictive value because they are non-specific. Patients with duodenal ulcers typically feel hungry or have nocturnal abdominal pain. By contrast, patients with gastric ulcers have postprandial abdominal pain, nausea, vomiting, and weight loss. Patients with untreated peptic ulcer disease typically have relapsing symptoms because of spontaneous healing and relapse while the causal factor (eg, H pylori infection or NSAID use) persists. synonym: "Sore in the lining of gastrointestinal tract" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: ICD10:K27 xref: MSH:D010437 xref: NCIt:C3318 xref: SNOMEDCT:13200003 xref: SNOMEDCT_US:13200003 xref: UMLS:C0030920 is_a: HP:0012718 ! Abnormal gastrointestinal tract morphology property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:14:00Z [Term] id: HP:0004401 name: Meconium ileus alt_id: HP:0002610 alt_id: HP:0004402 def: "Obstruction of the intestine due to abnormally thick meconium." [https://orcid.org/0000-0002-0736-9199] comment: Obstruction of the intestine is known as ileus. synonym: "Distal intestinal obstruction syndrome" RELATED [] synonym: "Meconium ileus in neonates" EXACT [] synonym: "Meconium ileus on ultrasonography" RELATED [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:206523001 xref: SNOMEDCT_US:233662009 xref: SNOMEDCT_US:86092005 xref: UMLS:C0398349 xref: UMLS:C2939175 xref: UMLS:C3553397 is_a: HP:0002242 ! Abnormal intestine morphology is_a: HP:0002579 ! Gastrointestinal dysmotility is_a: HP:0004796 ! Gastrointestinal obstruction property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:16:00Z [Term] id: HP:0004408 name: Abnormality of the sense of smell alt_id: HP:0004410 def: "An anomaly in the ability to perceive and distinguish scents (odors)." [] subset: hposlim_core synonym: "Abnormal sense of smell" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of olfaction" EXACT [] synonym: "Abnormality of the sense of smell" EXACT layperson [] synonym: "Smell defect" EXACT layperson [] xref: UMLS:C4021655 is_a: HP:0000366 ! Abnormality of the nose is_a: HP:0012638 ! Abnormal nervous system physiology property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:21:00Z [Term] id: HP:0004418 name: Thrombophlebitis def: "Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein)." [https://orcid.org/0000-0002-0736-9199] xref: MSH:D013924 xref: SNOMEDCT_US:64156001 xref: UMLS:C0040046 is_a: HP:0004936 ! Venous thrombosis property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:30:00Z [Term] id: HP:0004419 name: Recurrent thrombophlebitis def: "Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein)." [https://orcid.org/0000-0002-0736-9199] synonym: "Recurrent phlebitis" EXACT [] synonym: "Recurrent thrombosis" EXACT [] xref: UMLS:C3550150 is_a: HP:0004418 ! Thrombophlebitis property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:31:00Z [Term] id: HP:0004420 name: Arterial thrombosis def: "The formation of a blood clot inside an artery." [https://orcid.org/0000-0002-0736-9199] synonym: "Blood clot in artery" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:65198009 xref: UMLS:C0151942 is_a: HP:0001977 ! Abnormal thrombosis property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:32:00Z [Term] id: HP:0004421 name: Elevated systolic blood pressure alt_id: HP:0004956 def: "Abnormal increase in systolic blood pressure." [https://orcid.org/0000-0002-0736-9199] comment: Normal systolic blood pressure is less than 120 mmHg in adults. synonym: "Elevated systolic BP" EXACT abbreviation [] xref: UMLS:C1840374 is_a: HP:0032263 ! Increased blood pressure property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:33:00Z [Term] id: HP:0004439 name: Craniofacial dysostosis def: "A characteristic appearance resulting from defective ossification of craniofacial bones." [https://orcid.org/0000-0002-0736-9199] comment: Note: This term is used in the medical literature to describe an appearance of the face of patients with Crouzon syndrome (also called craniofacial dysostosis), which is characterized by acrocephaly, exophthalmos, hypertelorism, strabismus, parrot-beaked nose, and hypoplastic maxilla. This is thus probably mainly used as a bundled term and should be replaced by better descriptions in the future. synonym: "Crouzon syndrome" EXACT [https://orcid.org/0000-0001-5889-4463] xref: MSH:D003394 xref: SNOMEDCT_US:28861008 xref: UMLS:C0010273 is_a: HP:0000271 ! Abnormality of the face is_a: HP:0000929 ! Abnormal skull morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:58:00Z [Term] id: HP:0004443 name: Lambdoidal craniosynostosis alt_id: HP:0004486 def: "A kind of craniosynostosis affecting the lambdoidal suture." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Lambdoid suture craniosynostosis" EXACT [] synonym: "Lambdoid suture synostosis" EXACT [https://orcid.org/0000-0001-5889-4463] xref: MSH:D003398 xref: SNOMEDCT_US:109417006 xref: UMLS:C1833340 is_a: HP:0000929 ! Abnormal skull morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T10:01:00Z [Term] id: HP:0004448 name: Fulminant hepatic failure def: "Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver." [https://orcid.org/0000-0002-0736-9199] xref: MSH:D017114 xref: SNOMEDCT_US:197270009 xref: SNOMEDCT_US:235884008 xref: UMLS:C0162557 is_a: HP:0006554 ! Acute hepatic failure property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T10:09:00Z [Term] id: HP:0004467 name: Preauricular pit alt_id: HP:0000392 alt_id: HP:0004460 alt_id: HP:0005118 alt_id: HP:0008552 alt_id: HP:0008578 def: "Small indentation anterior to the insertion of the ear." [https://orcid.org/0009-0006-4530-3154, PMID:19152421] comment: Preauricular cysts and sinuses are ectodermal remnants from an aberrant development of the auditory tubercles, tend to be bilateral and are localized anterior to the tragus of the ear. The preauricular sinus is a benign congenital lesion of the preauricular soft tissue consisting of a blind-ending narrow tube or pit. It is also known as preauricular pit, preauricular fistula, preauricular tract and preauricular cyst. It can be asymptomatic or present as an infected and discharging sinus. It presents as a small pit adjacent to the external ear usually located at the anterior margin of the ascending limb of the helix. The preauricular sinus is variably also termed a preauricular pit, preauricular fistula, preauricular tract and preauricular cyst. synonym: "Ear pit" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Pit in front of the ear" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Preauricular earpits" EXACT [] synonym: "Preauricular fistulas" EXACT [] synonym: "Preauricular pits" EXACT [] synonym: "Preauricular sinus" EXACT [] xref: MSH:C563015 xref: SNOMEDCT_US:1955003 xref: SNOMEDCT_US:204271000 xref: SNOMEDCT_US:204272007 xref: UMLS:C0266610 xref: UMLS:C0266625 xref: UMLS:C0546969 is_a: HP:0000271 ! Abnormality of the face is_a: HP:0011121 ! Abnormal skin morphology [Term] id: HP:0004474 name: Persistent open anterior fontanelle alt_id: HP:0004475 alt_id: HP:0004483 def: "The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age." [https://orcid.org/0000-0002-0736-9199] synonym: "Anterior fontanelle open in adults" RELATED [] synonym: "Front fontanelle stays open" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Persistent, open anterior fontanel" EXACT [] xref: UMLS:C1849537 is_a: HP:0001476 ! Delayed closure of the anterior fontanelle [Term] id: HP:0004481 name: Progressive macrocephaly alt_id: HP:0000261 def: "The progressive development of an abnormally large skull." [https://orcid.org/0000-0002-0736-9199] synonym: "Macrocephaly, progressive" EXACT [] synonym: "Progressively abnormally enlarging cranium" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Progressively abnormally enlarging skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1859896 is_a: HP:0000256 ! Macrocephaly [Term] id: HP:0004482 name: Relative macrocephaly alt_id: HP:0000257 alt_id: HP:0001364 def: "A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account." [https://orcid.org/0000-0002-0736-9199] synonym: "Disproportionately large head" EXACT [] synonym: "Macrocephaly, relative" EXACT [] synonym: "Relatively large head" EXACT layperson [] xref: SNOMEDCT_US:3961000119101 xref: UMLS:C1849075 is_a: HP:0000256 ! Macrocephaly [Term] id: HP:0004532 name: Sacral hypertrichosis def: "Excessive, increased hair growth located in the sacral region." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025313 is_a: HP:0001574 ! Abnormality of the integument [Term] id: HP:0004552 name: Scarring alopecia of scalp synonym: "Cicatricial alopecia" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hair loss on scalp from scarring condition" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C3806301 is_a: HP:0002293 ! Alopecia of scalp is_a: HP:0011121 ! Abnormal skin morphology is_a: HP:0100699 ! Scarring is_a: MONDO:0100118 ! hereditary skin disorder is_a: Orphanet:68346 ! Rare genetic skin disease [Term] id: HP:0004602 name: Cervical C2/C3 vertebral fusion alt_id: HP:0004636 def: "Fusion of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine." [https://orcid.org/0000-0002-0736-9199] synonym: "Fusion of cervical vertebrae c2-3" EXACT [] synonym: "Klippel-Feil anomaly" EXACT [] synonym: "Klippel-Feil syndrome" EXACT [] xref: MSH:D007714 xref: SNOMEDCT_US:388981000 xref: SNOMEDCT_US:5601008 xref: UMLS:C0022738 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0004605 name: Absent vertebral body mineralization def: "A lack of bone mineralization of the vertebral bodies." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1860191 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0004691 name: 2-3 toe syndactyly alt_id: HP:0001846 alt_id: HP:0001856 alt_id: HP:0003773 alt_id: HP:0004683 alt_id: HP:0004685 alt_id: HP:0004697 alt_id: HP:0004703 alt_id: HP:0008086 alt_id: HP:0008123 def: "Syndactyly with fusion of toes two and three." [https://orcid.org/0009-0006-4530-3154] synonym: "2-3 syndactyly of feet" EXACT [] synonym: "2-3 toe soft tissue syndactyly" EXACT [] synonym: "2-3 toes syndactyly" EXACT [] synonym: "partial or complete syndactyly 2nd-3rd toes" EXACT [] synonym: "Syndactyly of second and third toes" EXACT [] synonym: "Toe syndactyly, 2-3" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Webbed 2nd and 3rd toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:205145001 xref: UMLS:C0432040 is_a: HP:0001770 ! Toe syndactyly [Term] id: HP:0004696 name: Talipes cavus equinovarus xref: UMLS:C1832342 is_a: HP:0001762 ! Talipes equinovarus [Term] id: HP:0004719 name: Hyperechogenic kidneys def: "An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal." [https://orcid.org/0000-0002-0736-9199, PMID:2259758, PMID:24235286] comment: Normal renal parenchyma is similar (isoechoic) or slightly darker (hypoechoic) compared with liver and includes the cortex and medulla. The thickness of the renal cortex is measured from the outer border of the medullary pyramids (yellow line) or from the arcuate arteries to the renal capsule. The medullary pyramids (white arrow) contain fluid in parallel tubules, which is anechoic (black) and appear as regularly spaced dark pools at the inner margin of the parenchyma (arrow). Because fat is echogenic, the central renal sinus appears bright. synonym: "Echogenic kidneys" EXACT [] synonym: "Increased echogenicity of the renal parenchyma" EXACT [] xref: UMLS:C3275899 is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0004729 name: Acute tubulointerstitial nephritis def: "Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules." [https://orcid.org/0000-0002-0736-9199] xref: MSH:C564356 xref: UMLS:C1843274 is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0004743 name: Chronic tubulointerstitial nephritis def: "Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:60926001 xref: UMLS:C0238304 is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0004751 name: Paroxysmal ventricular tachycardia alt_id: HP:0005141 def: "Episodes of ventricular tachycardia that have a sudden onset and ending." [] synonym: "Episodes of ventricular tachycardia" EXACT [] xref: SNOMEDCT_US:66657009 xref: UMLS:C0030591 is_a: HP:0001649 ! Tachycardia property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0004755 name: Supraventricular tachycardia def: "Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] comment: A narrow complex (QRS width less than 120 milliseconds) reflects rapid activation of the ventricles via the normal conduction pathway, i.e. His-Purkinje system, which in turn suggests that the tachycardia originated above the AV node and is thus supraventricular. synonym: "Supraventricular tachyarrhythmia" EXACT [] synonym: "SVT" EXACT abbreviation [] xref: MSH:D013617 xref: SNOMEDCT_US:6456007 xref: UMLS:C0039240 xref: UMLS:C1698480 is_a: EFO:0004269 ! cardiac arrhythmia is_a: HP:0001649 ! Tachycardia property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0004758 name: Effort-induced polymorphic ventricular tachycardia def: "Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration." [PMID:15913575] synonym: "Catecholaminergic polymorphic ventricular tachycardia" EXACT [] synonym: "Exercise-induced polymorphic ventricular tachycardia" EXACT [] xref: UMLS:C4025298 is_a: HP:0001649 ! Tachycardia [Term] id: HP:0004763 name: Paroxysmal supraventricular tachycardia alt_id: HP:0004765 def: "An episodic form of supraventricular tachycardia with abrupt onset and termination." [PMID:18025404] comment: PSVT is a term used to denote intermittent supraventricular tachycardia other than atrial fibrillation, atrial flutter and multifocal atrial tachycardia (AT). The major causes are atrioventricular reentrant tachycardia (AVNRT), atrioventricular reentrant tachycardia (AVRT), and sinoatrial node reentrant tachycardia (SNRT). synonym: "Episodic rapid heart beat" BROAD layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Episodic supraventricular tachycardia" EXACT [] xref: SNOMEDCT_US:67198005 xref: UMLS:C0030590 xref: UMLS:C4280507 is_a: HP:0004755 ! Supraventricular tachycardia property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0004787 name: Fulminant hepatitis def: "Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice." [https://orcid.org/0000-0002-0736-9199, PMID:18825677] comment: Note that different definitions of fulminant hepatitis are used in the medical literature. xref: SNOMEDCT_US:427044009 xref: UMLS:C0302809 is_a: HP:0004448 ! Fulminant hepatic failure is_a: HP:0012115 ! Hepatitis [Term] id: HP:0004796 name: Gastrointestinal obstruction synonym: "Gastrointestinal obstruction" EXACT layperson [] synonym: "GI obstruction" EXACT abbreviation [] synonym: "Obstruction in digestive tract" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: ICD10:K56 xref: SNOMEDCT:126765001 xref: SNOMEDCT_US:126765001 xref: UMLS:C0236124 is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0004798 name: Recurrent infection of the gastrointestinal tract def: "Recurrent infection of the gastrointestinal tract." [https://orcid.org/0000-0002-0736-9199] synonym: "Gastrointestinal infections" RELATED layperson [] synonym: "Gastrointestinal infections, recurrent" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Recurrent gastrointestinal infections" EXACT layperson [] synonym: "Recurrent infection of the gastrointestinal tract" EXACT layperson [] synonym: "Recurrent infection of the GI tract" EXACT abbreviation [] xref: SNOMEDCT_US:715852004 xref: UMLS:C1264613 xref: UMLS:C1854495 xref: UMLS:C4082764 is_a: HP:0002719 ! Recurrent infections is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract [Term] id: HP:0004804 name: Congenital hemolytic anemia alt_id: HP:0004811 alt_id: HP:0004824 def: "A form of hemolytic anemia with congenital onset." [https://orcid.org/0000-0002-0736-9199] synonym: "Congenital haemolytic anaemia" EXACT uk_spelling [] synonym: "Congenital haemolytic anemia" EXACT [] synonym: "Congenital hemolytic anaemia" EXACT uk_spelling [] synonym: "Neonatal hemolytic anaemia" RELATED uk_spelling [] synonym: "Neonatal hemolytic anemia" RELATED [] xref: MSH:D000745 xref: OMIM:301015 xref: SNOMEDCT_US:38911009 xref: SNOMEDCT_US:42601008 xref: UMLS:C0002881 xref: UMLS:C4020827 is_a: EFO:0005558 ! hemolytic anemia [Term] id: HP:0004839 name: Pyropoikilocytosis alt_id: HP:0004805 def: "A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn." [https://orcid.org/0000-0002-0736-9199, PMID:16304353] synonym: "hereditary pyropoikilocytosis" EXACT [] xref: MSH:C563004 xref: SNOMEDCT_US:9434008 xref: UMLS:C0520739 is_a: HP:0001877 ! Abnormal erythrocyte morphology [Term] id: HP:0004840 name: Hypochromic microcytic anemia alt_id: HP:0004842 def: "A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypochromic microcytic anaemia" EXACT uk_spelling [] synonym: "Hypochromic, microcytic anaemia" EXACT uk_spelling [] synonym: "Hypochromic, microcytic anemia" EXACT [] xref: DOID:0050642 xref: MSH:C536357 xref: SNOMEDCT_US:44666001 xref: UMLS:C0271901 is_a: HP:0010972 ! Anemia of inadequate production [Term] id: HP:0004855 name: Reduced protein S activity def: "An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C." [https://orcid.org/0000-0002-0736-9199] comment: Protein S functions as a cofactor to Protein C in the inactivation of Factors Va and VIIIa in the coagulation pathway. Therefore, a defect in protein S is associated with an increased risk of thrombosis. synonym: "Protein S deficiency" NARROW [] xref: MSH:D018455 xref: SNOMEDCT_US:1563006 xref: UMLS:C0242666 xref: UMLS:C4025284 is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0004872 name: Incisional hernia def: "An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound." [https://orcid.org/0000-0002-0736-9199] synonym: "Recurrent abdominal hernia" EXACT [] xref: MSH:D000069290 xref: SNOMEDCT_US:236037000 xref: SNOMEDCT_US:241556001 xref: UMLS:C0267716 xref: UMLS:C4021645 is_a: HP:0004299 ! Hernia of the abdominal wall [Term] id: HP:0004887 name: Respiratory failure requiring assisted ventilation alt_id: HP:0004883 def: "A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation." [https://orcid.org/0000-0002-7440-8864, PMID:18710593, PMID:28620428] synonym: "Respiratory distress necessitating mechanical ventilation" EXACT [] synonym: "Respiratory distress requiring endotracheal intubation" EXACT [] synonym: "Respiratory distress requiring mechanical ventilation" EXACT [] xref: UMLS:C4025279 is_a: HP:0002093 ! Respiratory insufficiency [Term] id: HP:0004902 name: Congenital lactic acidosis def: "A form of lactic acidemia with congenital onset." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025276 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0004925 name: Chronic lactic acidosis alt_id: HP:0004899 def: "A chronic form of lactic acidemia." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1839437 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0004933 name: Ascending aortic dissection def: "A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space." [https://orcid.org/0000-0002-0736-9199] comment: According to the Stanford classification, type A aortic dissection affects the ascending aorta and arch. synonym: "Type A aortic dissection" EXACT [] xref: UMLS:C1836653 is_a: HP:0002647 ! Aortic dissection [Term] id: HP:0004936 name: Venous thrombosis def: "Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow." [https://orcid.org/0000-0002-0736-9199] synonym: "Blood clot in vein" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: MSH:D020246 xref: NCIt:C99107 xref: OMIM:188050 xref: OMIM:188055 xref: OMIM:300807 xref: OMIM:612356 xref: OMIM:614486 xref: SNOMEDCT:111293003 xref: SNOMEDCT_US:111293003 xref: UMLS:C0042487 xref: UMLS:C0517555 is_a: HP:0001977 ! Abnormal thrombosis [Term] id: HP:0004969 name: Peripheral pulmonary artery stenosis alt_id: HP:0004957 def: "Stenosis of a peripheral branch of the pulmonary artery." [https://orcid.org/0000-0002-0736-9199] synonym: "Narrowing of peripheral lung artery" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Occlusion of small pulmonary arteries" RELATED [] synonym: "peripheral pulmonary stenosis" EXACT [] synonym: "Peripheral pulmonic stenosis" EXACT [] xref: SNOMEDCT_US:253631001 xref: UMLS:C0345030 is_a: HP:0002088 ! Abnormal lung morphology is_a: HP:0002597 ! Abnormality of the vasculature is_a: HP:0030680 ! Abnormal cardiovascular system morphology [Term] id: HP:0005033 name: Distal ulnar hypoplasia alt_id: HP:0006474 def: "Underdevelopment of the distal portion of the ulna." [https://orcid.org/0000-0002-0736-9199] synonym: "Distal shortening of ulna" EXACT [] synonym: "Hypoplastic distal ulna" EXACT [] xref: UMLS:C1833145 is_a: HP:0003026 ! Short long bone is_a: HP:0009824 ! Upper limb undergrowth is_a: HP:0040070 ! Abnormal upper limb bone morphology [Term] id: HP:0005085 name: Limited knee flexion/extension def: "A limited ability of the knee joint to perform extension and flexion." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1968606 is_a: HP:0002814 ! Abnormality of the lower limb is_a: HP:0011842 ! Abnormal skeletal morphology [Term] id: HP:0005117 name: Elevated diastolic blood pressure def: "Abnormal increase in diastolic blood pressure." [https://orcid.org/0000-0002-0736-9199] comment: Normal diastolic blood pressure is less than 80 mmHg. synonym: "Elevated diastolic BP" EXACT abbreviation [] xref: UMLS:C1840375 is_a: HP:0032263 ! Increased blood pressure property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-25T06:43:00Z [Term] id: HP:0005165 name: Shortened PR interval def: "Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long." [https://orcid.org/0000-0002-0736-9199] synonym: "Electrocardiographic short PR interval" EXACT [] synonym: "Short P-R interval" EXACT [] synonym: "Shortened PR interval on EKG" EXACT [] xref: SNOMEDCT_US:49578007 xref: UMLS:C0520878 is_a: HP:0003115 ! Abnormal EKG [Term] id: HP:0005180 name: Tricuspid regurgitation alt_id: HP:0004753 def: "Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium." [https://orcid.org/0000-0002-0736-9199] comment: This term should not be applied to Ebstein's anomaly of the tricuspid valve (see HP:0010316). synonym: "Tricuspid insufficiency" EXACT [] synonym: "Tricuspid valve regurgitation" EXACT [https://orcid.org/0000-0001-5208-3432] xref: Fyler:1161 xref: MSH:D014262 xref: SNOMEDCT_US:111287006 xref: UMLS:C0040961 is_a: HP:0011025 ! Abnormal cardiovascular system physiology [Term] id: HP:0005181 name: Premature coronary artery atherosclerosis def: "Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45." [PMID:28070240] synonym: "Premature coronary artery disease" EXACT layperson [] xref: UMLS:C1867743 is_a: HP:0100545 ! Arterial stenosis [Term] id: HP:0005184 name: Prolonged QTc interval def: "A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations." [PMID:24097136] xref: UMLS:C1560305 is_a: HP:0001657 ! Prolonged QT interval [Term] id: HP:0005206 name: Pancreatic pseudocyst def: "Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis." [https://orcid.org/0000-0002-0736-9199] xref: MSH:D010192 xref: SNOMEDCT_US:111374002 xref: UMLS:C0030299 is_a: HP:0002012 ! Abnormality of the abdominal organs property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0005208 name: Secretory diarrhea def: "Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption." [https://orcid.org/0000-0002-0736-9199] synonym: "Secretory diarrhoea" EXACT uk_spelling [] xref: SNOMEDCT_US:15699003 xref: UMLS:C0267557 is_a: HP:0002014 ! Diarrhea [Term] id: HP:0005224 name: Rectal abscess alt_id: HP:0002567 def: "A collection of pus in the area of the rectum." [https://orcid.org/0000-0002-0736-9199] synonym: "Perirectal abscess" EXACT [] xref: SNOMEDCT_US:197166005 xref: SNOMEDCT_US:91669008 xref: UMLS:C0149770 xref: UMLS:C0267566 is_a: HP:0002034 ! Abnormal rectum morphology is_a: HP:0002715 ! Abnormality of the immune system property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0005230 name: Biliary tract obstruction def: "Obstruction affecting the biliary tree." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:235918000 xref: UMLS:C0400979 is_a: HP:0012440 ! Abnormal biliary tract morphology [Term] id: HP:0005241 name: Total intestinal aganglionosis def: "A congenital defect characterized by the lack of ganglion cells in the entire intestine, i.e., the aganglionic segment comprises the entire large and small bowel." [https://orcid.org/0000-0002-0736-9199, PMID:596929] xref: MSH:C538058 xref: SNOMEDCT_US:204745000 xref: UMLS:C0345240 is_a: HP:0000707 ! Abnormality of the nervous system is_a: HP:0002242 ! Abnormal intestine morphology [Term] id: HP:0005268 name: Miscarriage def: "A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 22th week of pregnancy." [https://orcid.org/0000-0002-0736-9199] comment: The age at which fetal demise is legally classified asa a miscarriage varies between countries with the US being 20 gestational weeks and the UK being 24 gestational weeks. The HPO chooses the average of these age ranges. synonym: "Early fetal demise" EXACT [] synonym: "Early foetal demise" EXACT uk_spelling [] synonym: "Spontaneous abortion" EXACT [] xref: MSH:D000022 xref: SNOMEDCT_US:17369002 xref: UMLS:C0000786 is_a: HP:0034241 ! Prenatal death [Term] id: HP:0005280 name: Depressed nasal bridge alt_id: HP:0000425 alt_id: HP:0000428 alt_id: HP:0000439 alt_id: HP:0000459 alt_id: HP:0004413 alt_id: HP:0004505 alt_id: HP:0004506 alt_id: HP:0004666 alt_id: HP:0005119 alt_id: HP:0005284 def: "Posterior positioning of the nasal root in relation to the overall facial profile for age." [PMID:19152422] comment: The adjective "depressed" here does not indicate an active process but a status. A depressed nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed independently. In infancy, the nasal bridge is relatively more posterior than in the older person. The term depressed nasal bridge should only be used when the bridge is more posterior than is typical for age and ethnic background. subset: hposlim_core synonym: "Concave bridge of nose" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Concave nasal bridge" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Depressed bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Depressed nasal bridge" EXACT layperson [] synonym: "Depressed nasal root" EXACT [] synonym: "Depressed nasal root/bridge" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Flat bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Flat nasal bridge" EXACT layperson [] synonym: "Flat nasal root" EXACT [] synonym: "Flat, nasal bridge" EXACT layperson [] synonym: "Flattened nasal bridge" EXACT layperson [] synonym: "Low nasal bridge" EXACT layperson [] synonym: "Low nasal root" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Retruded bridge of nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Retruded nasal bridge" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1836542 xref: UMLS:C3550546 xref: UMLS:C4280495 is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0005281 name: Hypoplastic nasal bridge synonym: "Decreased size of bridge of nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of nasal bridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplastic bridge of nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophic bridge of nose" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophic nasal bridge" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Small bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Small nasal bridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1865597 xref: UMLS:C4280494 is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0005359 name: Aplasia of the thymus def: "Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent thymic shadow" RELATED [] synonym: "Absent thymus" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Athymia" EXACT [] synonym: "Lack of thymic shadow" RELATED [] xref: MSH:C536288 xref: SNOMEDCT_US:702623002 xref: SNOMEDCT_US:91918005 xref: UMLS:C0685894 is_a: HP:0010515 ! Aplasia/Hypoplasia of the thymus [Term] id: HP:0005387 name: Combined immunodeficiency def: "A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications." [PMID:23321211] xref: UMLS:C0494261 is_a: HP:0002721 ! Immunodeficiency [Term] id: HP:0005465 name: Facial hyperostosis alt_id: HP:0008508 def: "Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Enlargement of facial bones" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Enlargement of facial skeleton" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Enlargment of the facial bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Excessive growth of facial bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Excessive growth of facial skeleton" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hyperostosis of facial bones" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hyperostosis of facial skeleton" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypertrophy of facial bones" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Hypertrophy of facial skeleton" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Hypertrophy of the facial bones" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increase in size of the facial bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased ossification of facial bones" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Increased ossification of facial skeleton" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Overgrowth of facial bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Overgrowth of facial skeleton" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Overgrowth of the facial bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1857501 xref: UMLS:C4280485 xref: UMLS:C4280486 xref: UMLS:C4280487 is_a: HP:0000271 ! Abnormality of the face is_a: HP:0011821 ! Abnormal facial skeleton morphology [Term] id: HP:0005469 name: Flat occiput alt_id: HP:0000247 alt_id: HP:0000249 def: "Reduced convexity of the occiput (posterior part of skull)." [PMID:19125436] comment: Reduced convexity of the occiput gives an appearance of flattening. There are no objective measures for convexity of the occiput, and evaluation depends heavily on the experience of the observer. This finding may or may not be accompanied by Brachycephaly (which should be coded separately), and may be observed more frequently when an infant is placed to sleep on his/her back. Occipital plagiocephaly can result from fusion or sclerosis of the lambdoid suture. If unilateral, this is accompanied by unilateral occipital flattening and bulging of the ispilateral frontal bone. subset: hposlim_core synonym: "Flat back of skull" BROAD layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Flat back of the head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Flat back of the skull" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Flat posterior cranium" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Flat posterior head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Posterior flattening of the skull" EXACT [] xref: UMLS:C1837402 xref: UMLS:C4280482 is_a: HP:0000929 ! Abnormal skull morphology [Term] id: HP:0005484 name: Secondary microcephaly alt_id: HP:0000241 alt_id: HP:0000259 alt_id: HP:0005499 def: "Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth." [https://orcid.org/0000-0002-0736-9199] synonym: "Acquired microcephaly" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Deceleration of head growth" EXACT [] synonym: "Development of small head that was not present at birth" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Microcephaly, acquired" EXACT [] synonym: "Microcephaly, postnatal" EXACT [] synonym: "Postnatal deceleration of head circumference" EXACT [] synonym: "Postnatal microcephaly" EXACT [] xref: UMLS:C1847514 is_a: HP:0000252 ! Microcephaly [Term] id: HP:0005487 name: Prominent metopic ridge alt_id: HP:0005488 alt_id: HP:0005751 def: "Vertical bony ridge positioned in the midline of the forehead." [https://orcid.org/0000-0002-0736-9199, PMID:19125436] comment: The ridge may extend from the hairline to the glabella or may be partial. The frontal suture of the skull is a dense connective tissue structure that divides the two halves of the frontal bone of the skull in infants and children and usually undergoes closure by the age of six years. A persistent frontal suture is known as a metopic suture or sutura frontalis persistens. This can lead to a ridged appearance of the forehead. subset: hposlim_core synonym: "Prominent frontal ridge" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent frontal suture" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent metopic suture" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Ridging of frontal suture" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Ridging of metopic suture" EXACT [] xref: UMLS:C1857949 is_a: HP:0000271 ! Abnormality of the face is_a: HP:0000929 ! Abnormal skull morphology [Term] id: HP:0005521 name: Disseminated intravascular coagulation def: "Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels." [https://orcid.org/0000-0002-0736-9199, PMID:10451465, PMID:11816725] comment: DIC is a complex syndrome in which there is pathological generation of thrombin and diffuse intravascular clot formation. DIC may occur as acute decompensated or chronic compensated form. In acute decompensated DIC, there is a sudden massive exposure of tissue factor over a brief time period; Intravascular coagulation can also compromise the blood supply to organs and, in conjunction with hemodynamic and metabolic derangements, may contribute to the failure of multiple organs. At the same time, the use and subsequent depletion of platelets and coagulation proteins resulting from the ongoing coagulation may induce severe bleeding. Chronic DIC, also known as compensated DIC, results from a persistent weak or intermittent activating stimulus. Under such conditions, destruction and production of coagulation factors and platelets are balanced. xref: MSH:D004211 xref: SNOMEDCT_US:67406007 xref: UMLS:C0012739 is_a: HP:0001977 ! Abnormal thrombosis [Term] id: HP:0005532 name: Macrocytic dyserythropoietic anemia synonym: "Macrocytic dyserythropoietic anaemia" EXACT uk_spelling [] xref: UMLS:C4025183 is_a: HP:0010972 ! Anemia of inadequate production [Term] id: HP:0005562 name: Multiple renal cysts def: "The presence of many cysts in the kidney." [HPO_CONTRIBUTOR:Eurenomics_ewuehl] synonym: "Multiple kidney cysts" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:253883006 xref: UMLS:C0431718 is_a: HP:0000107 ! Renal cyst [Term] id: HP:0005609 name: Gallbladder dysfunction synonym: "Gallbladder dysfunction" EXACT layperson [] xref: SNOMEDCT_US:51047007 xref: UMLS:C0232769 is_a: HP:0012438 ! Abnormal gallbladder physiology [Term] id: HP:0005613 name: Aplasia/hypoplasia of the femur alt_id: HP:0006396 alt_id: HP:0006425 def: "Absence or underdevelopment of the femur." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hypoplastic to absent femora" EXACT [] synonym: "Hypoplastic/aplastic femora" EXACT [] xref: UMLS:C1851310 is_a: HP:0002814 ! Abnormality of the lower limb is_a: HP:0011842 ! Abnormal skeletal morphology [Term] id: HP:0005616 name: Accelerated skeletal maturation alt_id: HP:0002649 alt_id: HP:0005854 def: "An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [https://orcid.org/0000-0002-0736-9199] synonym: "Advanced bone age" EXACT layperson [] synonym: "Early bone maturation" EXACT layperson [] xref: SNOMEDCT_US:123982003 xref: UMLS:C0545053 is_a: HP:0000924 ! Abnormality of the skeletal system [Term] id: HP:0005639 name: Hyperextensible hand joints def: "The ability of the joints of the hand to move beyond their normal range of motion." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1856877 is_a: HP:0001382 ! Joint hypermobility [Term] id: HP:0005692 name: Joint hyperflexibility def: "Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles." [https://orcid.org/0000-0002-6548-5200] synonym: "Joints move beyond expected range of motion" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: UMLS:C3553764 is_a: HP:0001382 ! Joint hypermobility [Term] id: HP:0005709 name: 2-3 toe cutaneous syndactyly synonym: "Complete cutaneous syndactyly of second and third toes" EXACT [] synonym: "Cutaneous 2,3 toe syndactyly" EXACT [] synonym: "Cutaneous syndactyly of second and third toes" EXACT [] synonym: "Webbed skin of 2nd-3rd toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:205145001 xref: UMLS:C0432040 is_a: HP:0001770 ! Toe syndactyly [Term] id: HP:0005750 name: Lower-limb joint contracture def: "A limitation in the passive range of motion of a joint of the lower limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin." [] synonym: "Contractures of the joints of the lower limbs" EXACT [] synonym: "Contractures, lower limbs" EXACT [] xref: UMLS:C1859523 is_a: HP:0003121 ! Limb joint contracture [Term] id: HP:0005775 name: Multiple skeletal anomalies xref: UMLS:C4025138 is_a: HP:0002652 ! Skeletal dysplasia [Term] id: HP:0005855 name: Multiple prenatal fractures alt_id: HP:0002811 alt_id: HP:0005761 def: "The presence of bone fractures in the prenatal period that are diagnosed at birth or before." [https://orcid.org/0000-0002-0736-9199] synonym: "Congenital bone fractures" EXACT [] synonym: "Multiple fractures present at birth" EXACT layperson [] synonym: "Multiple fractures, present at birth" EXACT layperson [] synonym: "Numerous multiple fractures present at birth" EXACT layperson [] synonym: "Numerous multiple fractures that are present at birth" EXACT layperson [] xref: UMLS:C1853171 is_a: HP:0002659 ! Increased susceptibility to fractures [Term] id: HP:0005879 name: Congenital finger flexion contractures def: "Multiple bent (flexed) finger joints that cannot be straightened actively or passively." [https://orcid.org/0000-0002-0736-9199] synonym: "Congenital finger contractures" EXACT [] xref: UMLS:C1393871 is_a: HP:0001167 ! Abnormal finger morphology is_a: HP:0003121 ! Limb joint contracture is_a: HP:0009810 ! Abnormality of upper limb joint is_a: HP:0012385 ! Camptodactyly [Term] id: HP:0005881 name: Spinal instability xref: SNOMEDCT_US:240220009 xref: UMLS:C0410648 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0005957 name: Breathing dysregulation xref: UMLS:C3808046 is_a: HP:0002086 ! Abnormality of the respiratory system [Term] id: HP:0005986 name: Limitation of neck motion synonym: "Limitation of neck motion" EXACT layperson [] synonym: "Limited neck mobility" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Restricted neck movement" EXACT [] xref: MSH:D009127 xref: SNOMEDCT_US:161882006 xref: SNOMEDCT_US:405947006 xref: UMLS:C0151315 xref: UMLS:C1320474 xref: UMLS:C1847392 is_a: HP:0000464 ! Abnormality of the neck [Term] id: HP:0006000 name: Ureteral obstruction def: "Obstruction of the flow of urine through the ureter." [https://orcid.org/0000-0002-0736-9199] xref: Fyler:4492 xref: MSH:D014517 xref: SNOMEDCT_US:20018005 xref: UMLS:C0041956 is_a: HP:0000069 ! Abnormality of the ureter [Term] id: HP:0006101 name: Finger syndactyly alt_id: HP:0006057 def: "Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as \"Symphalangism\"." [https://orcid.org/0000-0002-0736-9199] synonym: "Partial syndactyly" EXACT [] xref: SNOMEDCT_US:249769001 xref: SNOMEDCT_US:268251006 xref: SNOMEDCT_US:34048007 xref: UMLS:C0221352 is_a: HP:0011297 ! Abnormal digit morphology is_a: Orphanet:183536 ! Genetic congenital limb malformation is_a: Orphanet:404571 ! Dysostosis of genetic origin with limb anomaly as a major feature [Term] id: HP:0006114 name: Multiple palmar creases def: "The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease)." [https://orcid.org/0000-0002-0736-9199] synonym: "Multiple palm lines" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1861872 is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0011121 ! Abnormal skin morphology [Term] id: HP:0006118 name: Shortening of all distal phalanges of the fingers alt_id: HP:0005658 def: "Hypoplasia of all of the distal phalanx of finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Brachytelephalangy" RELATED [] synonym: "Shortening of all outermost bones of the fingers" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021608 is_a: HP:0009803 ! Short phalanx of finger [Term] id: HP:0006150 name: Swan neck-like deformities of the fingers def: "A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1849152 is_a: HP:0001167 ! Abnormal finger morphology [Term] id: HP:0006159 name: Mesoaxial hand polydactyly alt_id: HP:0001496 alt_id: HP:0004056 def: "The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Central hand polydactyly" RELATED [] synonym: "Interdigital finger polydactyly" EXACT [] xref: UMLS:C4021606 is_a: HP:0001167 ! Abnormal finger morphology [Term] id: HP:0006165 name: Proportionate shortening of all digits synonym: "Proportionate shortening of all digits" EXACT layperson [] xref: UMLS:C1862157 is_a: HP:0001167 ! Abnormal finger morphology [Term] id: HP:0006315 name: Solitary median maxillary central incisor alt_id: HP:0001568 alt_id: HP:0001573 alt_id: HP:0006356 def: "A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors." [PMID:19125428] comment: The tooth differs from a normal central incisor in the symmetric formation of the crown. The tooth is present in both deciduous and permanent dentition. Solitary/single median maxillary central incisor syndrome indicates the presence of a single median maxillary central incisor together with other midline defects of development. A single maxillary central incisor not positioned in the midline indicates agenesis of the contralateral central incisor and A single maxillary central incisor positioned in the midline with mor- can be differentiated furthermore by the morphology of the crown. A diagnosis of a solitary median maxillary central incisor typically requires X-rays examinations. subset: hposlim_core synonym: "Only one upper front tooth" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Single central incisor" EXACT [] synonym: "Single central upper incisor" EXACT [] synonym: "Single maxillary central incisor" EXACT [] synonym: "Single median incisor" EXACT [] synonym: "Single median maxillary incisor" EXACT [] synonym: "Single midline maxillary incisor" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Single midline upper front tooth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Solitary median maxillary central incisor" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Solitary median maxillary central incisor syndrome" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Solitary midline maxillary central incisor" EXACT [https://orcid.org/0000-0001-5889-4463] xref: MSH:C537342 xref: SNOMEDCT_US:707609006 xref: UMLS:C1840235 is_a: HP:0000164 ! Abnormality of the dentition [Term] id: HP:0006337 name: Premature eruption of permanent teeth def: "Premature tooth eruption of the permanent dentition." [https://orcid.org/0000-0002-9338-3017] subset: hposlim_core synonym: "Early eruption of adult teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Early eruption of permanent teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Precocious eruption of secondary dentition" EXACT [] synonym: "Precocious eruption of secondary teeth" EXACT [] synonym: "Premature eruption of adult teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4021601 is_a: HP:0000164 ! Abnormality of the dentition [Term] id: HP:0006467 name: Limited shoulder movement def: "A limitation of the range of movement of the shoulder joint." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Limited shoulder movement" EXACT layperson [] xref: UMLS:C1851313 is_a: HP:0000924 ! Abnormality of the skeletal system [Term] id: HP:0006487 name: Bowing of the long bones alt_id: HP:0002976 alt_id: HP:0005087 alt_id: HP:0005908 alt_id: HP:0006404 alt_id: HP:0006451 alt_id: HP:0006452 def: "A bending or abnormal curvature of a long bone." [https://orcid.org/0000-0002-0736-9199] comment: Curvatures of a long bone such as femur, tibia, or fibula. synonym: "Bowed long bones" EXACT layperson [] synonym: "Bowing of long bones" EXACT layperson [] synonym: "Bowing of the long bones" EXACT layperson [] synonym: "Camptomelia" EXACT [] synonym: "Diaphyseal bowing" EXACT [] synonym: "Diaphyseal bowing of long bones" EXACT [] xref: UMLS:C1855340 is_a: HP:0011842 ! Abnormal skeletal morphology is_a: HP:0040064 ! Abnormality of limbs property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-28T05:56:00Z [Term] id: HP:0006515 name: Interstitial pneumonitis xref: MSH:D017563 xref: SNOMEDCT_US:64667001 xref: UMLS:C0206061 is_a: HP:0006530 ! Abnormal pulmonary interstitial morphology [Term] id: HP:0006517 name: Intraalveolar phospholipid accumulation alt_id: HP:0032982 def: "Accumulation of amorphous PAS-positive material in the space betweem alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis." [https://orcid.org/0000-0002-0736-9199, PMID:21900000, PMID:22891182] comment: The periodic acid Schiff (PAS) staining is a staining method that detects polysaccharidese and mucosubstances, for example: glycogen, glyolipids, glyoproteins and mucins. It is one of the commonly used procedures in the histophathology laboratory and is easy to perfom. It may help in discriminating different forms of interstitial lung disease (ILD), especially pulmonary alveolar proteinosis (PAP). synonym: "Alveolar proteinosis" EXACT [] synonym: "Detection of PAS-positive extracellular material in broncho-alveolar lavage" EXACT [] synonym: "Pulmonary alveolar proteinosis" EXACT [] xref: MSH:D011649 xref: SNOMEDCT_US:10501004 xref: UMLS:C0034050 is_a: HP:0002088 ! Abnormal lung morphology [Term] id: HP:0006521 name: Pulmonary lymphangiectasia alt_id: HP:0006526 alt_id: HP:0006551 def: "Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid." [https://orcid.org/0000-0002-0736-9199] synonym: "Pulmonary lymphangiectasis" EXACT [] xref: UMLS:C1855480 is_a: HP:0002088 ! Abnormal lung morphology is_a: HP:0030680 ! Abnormal cardiovascular system morphology is_a: HP:0100763 ! Abnormality of the lymphatic system [Term] id: HP:0006530 name: Abnormal pulmonary interstitial morphology alt_id: HP:0006513 alt_id: HP:0006547 def: "Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal lung parenchyma morphology" EXACT [] synonym: "Abnormality in area between air sacs in lung" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Interstitial lung disease" EXACT [] synonym: "Interstitial pulmonary disease" EXACT [] xref: MSH:D017563 xref: SNOMEDCT_US:233703007 xref: UMLS:C0206062 is_a: HP:0002088 ! Abnormal lung morphology [Term] id: HP:0006536 name: Airway obstruction alt_id: HP:0006512 def: "Obstruction of conducting airways of the lung." [https://orcid.org/0000-0002-0736-9199] synonym: "Obstructive lung disease" EXACT layperson [] synonym: "Pulmonary obstruction" EXACT [] xref: DOID:2320 xref: MSH:D008173 xref: UMLS:C0600260 is_a: HP:0002086 ! Abnormality of the respiratory system property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0006554 name: Acute hepatic failure alt_id: HP:0006556 def: "Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver." [https://orcid.org/0000-0002-0736-9199] synonym: "Acute liver failure" EXACT layperson [] xref: MSH:D017114 xref: SNOMEDCT_US:197270009 xref: SNOMEDCT_US:235884008 xref: UMLS:C0162557 is_a: HP:0001399 ! Hepatic failure [Term] id: HP:0006571 name: Reduced number of intrahepatic bile ducts def: "The presence of reduced numbers of intrahepatic bile duct than normal." [https://orcid.org/0000-0002-0736-9199] synonym: "Hepatic ductopenia" EXACT [] synonym: "Intrahepatic duct deficiency" RELATED [] xref: UMLS:C1861621 xref: UMLS:C4021591 is_a: HP:0012440 ! Abnormal biliary tract morphology [Term] id: HP:0006610 name: Wide intermamillary distance alt_id: HP:0000779 alt_id: HP:0001554 def: "A larger than usual distance between the left and right nipple." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Wide-spaced nipples" EXACT layperson [] synonym: "Widely spaced nipples" EXACT layperson [] synonym: "Widely-spaced nipples" EXACT layperson [] xref: SNOMEDCT_US:423230008 xref: UMLS:C1827524 is_a: HP:0000769 ! Abnormality of the breast [Term] id: HP:0006677 name: Prolonged QRS complex def: "Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec." [https://orcid.org/0000-0002-0736-9199] synonym: "Intraventricular conduction delay" EXACT [] synonym: "Prolonged QRS complex on EKG" EXACT [] synonym: "QRS widening" EXACT [] xref: SNOMEDCT_US:991002 xref: UMLS:C0235475 is_a: HP:0003115 ! Abnormal EKG [Term] id: HP:0006695 name: Atrioventricular canal defect alt_id: HP:0005139 alt_id: HP:0005298 alt_id: HP:0010439 def: "A defect of the atrioventricular septum of the heart." [https://orcid.org/0000-0002-0736-9199, PMID:12632326] comment: During atrioventricular valvuloseptal morphogenesis, the endocardial cushions expand as they are infiltrated by extracellular matrix secreted from the surrounding myocardium. The cushions then fuse and are remodeled to form the atrioventricular valves and septa. Failure of this process results in AVSD, with the degree of severity dependent on the stage at which the developmental failure occurs. AVSD are a spectrum of cardiac malformations that result in a persistent common atrioventricular canal. synonym: "Atrioventricular septal defect" EXACT [] synonym: "Endocardial cushion defect" EXACT [] synonym: "Hole in center of heart" BROAD layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Hole in centre of heart" BROAD uk_spelling [] xref: DOID:50651 xref: Fyler:0606 xref: Fyler:1100 xref: Fyler:606 xref: MSH:C562831 xref: MSH:D004694 xref: SNOMEDCT_US:15459006 xref: UMLS:C0014116 xref: UMLS:C0344783 xref: UMLS:C1389016 is_a: HP:0001671 ! Abnormal cardiac septum morphology property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0006699 name: Premature atrial contractions def: "A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites." [] synonym: "Atrial ectopic beats" EXACT [] synonym: "Atrial premature complex" EXACT [] synonym: "Ectopic supraventricular rhythms" EXACT [] synonym: "PACs" EXACT abbreviation [] synonym: "Premature supraventricular beats" EXACT [] xref: MSH:D018880 xref: SNOMEDCT_US:284470004 xref: SNOMEDCT_US:287057009 xref: SNOMEDCT_US:406461004 xref: SNOMEDCT_US:63593006 xref: UMLS:C0033036 is_a: HP:0030956 ! Abnormality of cardiovascular system electrophysiology property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0006767 name: Pituitary prolactin cell adenoma def: "A type of pituitary adenoma originating in prolactin secreting cells. This kind of adenoma is characterized by overproduction of prolactin, and may cause loss of menstrual periods and breast milk production in women." [https://orcid.org/0000-0002-0538-4547] synonym: "Pituitary prolactinoma" EXACT [] synonym: "Prolactin-secreting pituitary adenoma" EXACT [] xref: MSH:D015175 xref: SNOMEDCT_US:134209002 xref: SNOMEDCT_US:34337008 xref: UMLS:C0033375 is_a: HP:0000818 ! Abnormality of the endocrine system is_a: HP:0012443 ! Abnormal brain morphology [Term] id: HP:0006789 name: Mitochondrial encephalopathy xref: MSH:C538525 xref: UMLS:C1852373 is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0006829 name: Severe muscular hypotonia alt_id: HP:0002347 def: "A severe degree of muscular hypotonia characterized by markedly reduced muscle tone." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypotonia, severe" EXACT [] synonym: "Severely decreased muscle tone" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1839630 is_a: HP:0001252 ! Hypotonia [Term] id: HP:0006834 name: Developmental stagnation at onset of seizures def: "A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills, following the onset of epilepsy." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1836829 is_a: HP:0012759 ! Neurodevelopmental abnormality [Term] id: HP:0006855 name: Cerebellar vermis atrophy alt_id: HP:0007121 alt_id: HP:0007312 def: "Wasting (atrophy) of the vermis of cerebellum." [https://orcid.org/0000-0002-0736-9199] comment: This sign can be visualized with brain MRI. synonym: "Atrophy of cerebellar vermis" EXACT [] synonym: "Atrophy of the cerebellar vermis" EXACT [] synonym: "Vermian atrophy" EXACT [] xref: UMLS:C0742028 is_a: HP:0001272 ! Cerebellar atrophy [Term] id: HP:0006872 name: Cerebral hypoplasia alt_id: HP:0001322 def: "Underdevelopment of the cerebrum." [https://orcid.org/0000-0002-0736-9199] synonym: "Small cerebrum" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Underdeveloped cerebrum" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1855330 is_a: HP:0012443 ! Abnormal brain morphology [Term] id: HP:0006882 name: Severe hydrocephalus xref: UMLS:C3278123 is_a: HP:0000238 ! Hydrocephalus [Term] id: HP:0006895 name: Lower limb hypertonia xref: UMLS:C1845245 is_a: HP:0002509 ! Limb hypertonia [Term] id: HP:0006915 name: Inability to walk by childhood/adolescence synonym: "Inability to walk by childhood/adolescence" EXACT layperson [] xref: UMLS:C1859200 is_a: HP:0002540 ! Inability to walk [Term] id: HP:0006919 name: Abnormal aggressive, impulsive or violent behavior synonym: "Abnormal aggressive, impulsive or violent behaviour" EXACT uk_spelling [] synonym: "Aggressive/violent behavior" BROAD layperson [] synonym: "Aggressive/violent behaviour" BROAD uk_spelling [] xref: UMLS:C4024963 is_a: HP:0100851 ! Abnormal emotion [Term] id: HP:0006957 name: obsolete Loss of ability to walk is_obsolete: true replaced_by: HP:0002505 [Term] id: HP:0006978 name: Dysmyelinating leukodystrophy xref: UMLS:C3278204 is_a: HP:0002011 ! Morphological central nervous system abnormality is_a: HP:0012447 ! Abnormal myelination [Term] id: HP:0006986 name: Upper limb spasticity synonym: "Uncontrollable movement in upper arms" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:394680009 xref: UMLS:C1273957 is_a: HP:0001257 ! Spasticity [Term] id: HP:0007010 name: Poor fine motor coordination def: "An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes." [] synonym: "Fine motor disability" EXACT [] synonym: "Fine motor impairment" EXACT [] synonym: "Fine motor skill dysfunction" EXACT [] synonym: "Impaired fine motor skills" EXACT [] xref: UMLS:C1867864 is_a: HP:0002275 ! Poor motor coordination [Term] id: HP:0007034 name: Generalized hyperreflexia synonym: "Generalised hyperreflexia" EXACT uk_spelling [] xref: UMLS:C4024949 is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0007083 name: Hyperactive patellar reflex synonym: "Brisk knee jerk" RELATED layperson [] synonym: "Hyperreflexia in knees" EXACT [] synonym: "Overactive knee reflex" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C0240116 is_a: HP:0002395 ! Lower limb hyperreflexia [Term] id: HP:0007126 name: Proximal amyotrophy alt_id: HP:0006792 alt_id: HP:0006966 alt_id: HP:0008943 alt_id: HP:0008980 alt_id: HP:0009041 def: "Amyotrophy (muscular atrophy) affecting the proximal musculature." [https://orcid.org/0000-0002-0736-9199] comment: Proximal amyotrophy usually has a roughly symmetric distribution. synonym: "Muscle atrophy, proximal" EXACT [] synonym: "Proximal muscle atrophy" EXACT [] synonym: "Proximal muscle wasting" EXACT [] synonym: "Symmetric proximal muscular atrophy" EXACT [] synonym: "Symmetrical, proximal limb muscle atrophy" EXACT [] synonym: "Wasting of muscles near the body" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1850794 is_a: HP:0003202 ! Skeletal muscle atrophy [Term] id: HP:0007141 name: Sensorimotor neuropathy alt_id: HP:0007055 alt_id: HP:0007237 synonym: "Mixed polyneuropathy" EXACT [] synonym: "Nerve damage causing decreased feeling and movement" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Sensorimotor peripheral neuropathy" EXACT [] xref: UMLS:C1112256 is_a: HP:0012638 ! Abnormal nervous system physiology [Term] id: HP:0007165 name: Periventricular heterotopia alt_id: HP:0002272 def: "A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass." [https://orcid.org/0000-0002-0736-9199, PMID:22427329] comment: Periventricular gray matter heterotopia can be seen for example in patients with Smith-Lemli-Opitz-Syndrome. synonym: "Periventricular gray matter heterotopia" EXACT [] synonym: "Periventricular grey matter heterotopia" EXACT uk_spelling [] synonym: "Periventricular neuronal heterotopia" EXACT [https://orcid.org/0000-0002-0736-9199] synonym: "Subependymal gray matter heterotopia" EXACT [https://orcid.org/0000-0002-0736-9199] synonym: "Subependymal grey matter heterotopia" EXACT uk_spelling [] synonym: "Subependymal neuronal heterotopia" EXACT [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1849173 is_a: HP:0002282 ! Gray matter heterotopia [Term] id: HP:0007185 name: Loss of consciousness def: "Loss of alertness and orientation to place and time." [PMID:32090418] synonym: "Fainting" EXACT [] synonym: "Loss of consciousness" EXACT layperson [] synonym: "Passing out" EXACT layperson [] xref: MSH:D014474 xref: SNOMEDCT_US:418107008 xref: SNOMEDCT_US:419045004 xref: UMLS:C0041657 is_a: HP:0004372 ! Reduced consciousness property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-6262-8264 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9446-5121 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-1592-0825 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4672-4923 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-5554-6946 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7367-663X [Term] id: HP:0007210 name: Lower limb amyotrophy def: "Muscular atrophy affecting the lower limb." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024921 is_a: HP:0003202 ! Skeletal muscle atrophy [Term] id: HP:0007236 name: Recurrent subcortical infarcts xref: UMLS:C4024918 is_a: HP:0012443 ! Abnormal brain morphology [Term] id: HP:0007256 name: Abnormal pyramidal sign alt_id: HP:0003488 alt_id: HP:0007161 alt_id: HP:0007225 alt_id: HP:0007275 alt_id: HP:0007324 alt_id: HP:0007347 def: "Functional neurological abnormalities related to dysfunction of the pyramidal tract." [https://orcid.org/0000-0002-0736-9199] comment: Presence of these signs can indicate affection of the corticospinal (pyramidal) tracts. synonym: "Corticospinal signs" EXACT [] synonym: "Pyramidal signs" EXACT [] synonym: "Pyramidal tract signs" EXACT [] xref: SNOMEDCT_US:14648003 xref: UMLS:C0234132 is_a: HP:0011442 ! Abnormal central motor function [Term] id: HP:0007305 name: CNS demyelination alt_id: HP:0007222 def: "A loss of myelin from nerve fibers in the central nervous system." [https://orcid.org/0000-0002-0736-9199] comment: CNS demyelination affects the white matter, which consists mostly of axons with their envelope of myelin, along with two types of neuroglia: oligo-dendrocytes and astrocytes. synonym: "Demyelination in central white matter" EXACT [] xref: UMLS:C0338474 is_a: HP:0002011 ! Morphological central nervous system abnormality is_a: HP:0012447 ! Abnormal myelination [Term] id: HP:0007313 name: Cerebral degeneration alt_id: HP:0006874 synonym: "Neuroaxonal degeneration in the brain" EXACT [] xref: DOID:1443 xref: SNOMEDCT:418143002 xref: SNOMEDCT_US:418143002 xref: SNOMEDCT_US:52522001 xref: UMLS:C0154671 is_a: HP:0012444 ! Brain atrophy [Term] id: HP:0007328 name: Impaired pain sensation alt_id: HP:0002713 def: "Reduced ability to perceive painful stimuli." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased pain sensation" EXACT layperson [] synonym: "Decreased pinprick sensation" EXACT [] synonym: "Impaired pain sensation" EXACT layperson [] xref: UMLS:C1837522 is_a: HP:0003474 ! Somatic sensory dysfunction [Term] id: HP:0007333 name: Hypoplasia of the frontal lobes alt_id: HP:0002424 def: "Underdevelopment of the frontal lobe of the cerebrum." [https://orcid.org/0009-0006-4530-3154] synonym: "Frontal lobe hypoplasia" EXACT [] synonym: "Hypoplastic frontal lobes" EXACT [] synonym: "Underdeveloped frontal lobe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1849172 is_a: HP:0006872 ! Cerebral hypoplasia [Term] id: HP:0007340 name: Lower limb muscle weakness alt_id: HP:0002065 alt_id: HP:0002477 alt_id: HP:0009047 def: "Weakness of the muscles of the legs." [https://orcid.org/0000-0002-0736-9199] comment: Inability to perform rapid, alternating movements. synonym: "Leg weakness" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Lower extremity weakness" EXACT layperson [] synonym: "Lower limb muscle weakness" EXACT layperson [] synonym: "Lower limb weakness" EXACT layperson [] synonym: "Muscle weakness in lower limbs" EXACT layperson [] xref: SNOMEDCT_US:249945007 xref: UMLS:C0427068 xref: UMLS:C1836296 is_a: HP:0003690 ! Limb muscle weakness [Term] id: HP:0007359 name: Focal-onset seizure alt_id: HP:0002358 alt_id: HP:0040168 def: "A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures." [HPO_CONTRIBUTOR:jalbers, PMID:28276060, PMID:28276064] comment: In 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (>80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination; see Dialeptic seizure. synonym: "Focal onset seizure" EXACT [] synonym: "Focal seizure" EXACT [] synonym: "Focal seizures" EXACT plural_form [] synonym: "Focal-onset seizures" EXACT plural_form [] synonym: "Partial seizure" EXACT [] synonym: "Partial seizures" EXACT plural_form [] synonym: "Seizure affecting one half of brain" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D012640 xref: SNOMEDCT_US:29753000 xref: UMLS:C0751495 is_a: HP:0001250 ! Seizure property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-31T05:27:00Z [Term] id: HP:0007360 name: Aplasia/Hypoplasia of the cerebellum alt_id: HP:0006857 alt_id: HP:0007368 synonym: "Absent/small cerebellum" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped cerebellum" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Atrophy/Degeneration affecting the cerebellum" EXACT [] synonym: "Atrophy/Hypoplasia of the cerebellum" EXACT [] synonym: "Cerebellar hypoplasia/atrophy" EXACT [] xref: UMLS:C3279222 is_a: HP:0012443 ! Abnormal brain morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-31T05:30:00Z [Term] id: HP:0007366 name: Atrophy/Degeneration affecting the brainstem synonym: "Brainstem atrophy" EXACT [] xref: UMLS:C4024900 is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system is_a: HP:0012443 ! Abnormal brain morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-01T10:22:00Z [Term] id: HP:0007367 name: Atrophy/Degeneration affecting the central nervous system synonym: "Atrophy/Degeneration affecting the CNS" EXACT abbreviation [] xref: UMLS:C4024899 is_a: HP:0002011 ! Morphological central nervous system abnormality property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-01T10:23:00Z [Term] id: HP:0007370 name: Aplasia/Hypoplasia of the corpus callosum alt_id: HP:0007003 alt_id: HP:0007060 alt_id: HP:0007061 alt_id: HP:0007137 def: "Absence or underdevelopment of the corpus callosum." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/hypoplastic corpus callosum" EXACT [] synonym: "Agenesis/hypoplastic corpus callosum" EXACT [] synonym: "Complete or partial absence of the corpus callosum" EXACT [] synonym: "Hypoplasia or absence of the corpus callosum" EXACT [] synonym: "Hypoplastic or absent corpus callosum" EXACT [] xref: UMLS:C1861866 is_a: HP:0001273 ! Abnormal corpus callosum morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-01T10:35:00Z [Term] id: HP:0007404 name: Nonepidermolytic palmoplantar hyperkeratosis def: "Abnormal thickening of the skin on the palms and soles charactersized by hyperkeratosis of the stratum corneum with no evidence of epidermolysis characteristic of epidermolytic hyperkeratosis." [PMID:7528239] synonym: "Nonepidermolytic palmoplantar keratoderma" EXACT [] xref: MSH:C563422 xref: UMLS:C1833030 is_a: HP:0001760 ! Abnormal foot morphology is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0011368 ! Epidermal thickening [Term] id: HP:0007437 name: Multiple cutaneous leiomyomas def: "The presence of multiple leiomyomas of the skin." [https://orcid.org/0000-0002-0736-9199] xref: MSH:C535516 xref: NCIT:C3157 xref: UMLS:C1708350 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0007446 name: Palmoplantar blistering def: "A type of blistering that affects the skin of the palms of the hands and the soles of the feet." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024876 is_a: HP:0001760 ! Abnormal foot morphology is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0008066 ! Abnormal blistering of the skin [Term] id: HP:0007455 name: Adermatoglyphia xref: MSH:C565010 xref: UMLS:C1852150 is_a: HP:0011121 ! Abnormal skin morphology [Term] id: HP:0007552 name: Abnormal subcutaneous fat tissue distribution synonym: "Abnormal fat tissue distribution below the skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1859347 is_a: HP:0009124 ! Abnormal adipose tissue morphology is_a: HP:0011121 ! Abnormal skin morphology [Term] id: HP:0007559 name: Localized epidermolytic hyperkeratosis synonym: "Localised epidermolytic hyperkeratosis" EXACT uk_spelling [] xref: MSH:D053546 xref: UMLS:C1721006 is_a: HP:0011368 ! Epidermal thickening [Term] id: HP:0007565 name: Multiple cafe-au-lait spots alt_id: HP:0007416 def: "The presence of six or more cafe-au-lait spots." [https://orcid.org/0000-0003-1773-4011] synonym: "Multiple birthmarks" BROAD layperson [] synonym: "Multiple flat light-brown marks on skin" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:C537421 xref: UMLS:C1861975 is_a: HP:0000957 ! Cafe-au-lait spot [Term] id: HP:0007633 name: Bilateral microphthalmos alt_id: HP:0001143 alt_id: HP:0001585 def: "A developmental anomaly characterized by abnormal smallness of both eyes." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormally small eyeball on both sides" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Bilateral nanophthalmos" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of eyeballs" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of globes of eyes" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Microphthalmia, bilateral" EXACT [] xref: UMLS:C1843496 xref: UMLS:C4280421 xref: UMLS:C4280422 is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0007648 name: Punctate cataract def: "A type of cataract with punctate opacities of the lens." [https://orcid.org/0000-0002-0736-9199] synonym: "Punctate lenticular opacities" RELATED [] xref: SNOMEDCT_US:40714009 xref: UMLS:C0271165 xref: UMLS:C1969675 is_a: HP:0000517 ! Abnormal lens morphology [Term] id: HP:0007663 name: Reduced visual acuity alt_id: HP:0001091 alt_id: HP:0007693 alt_id: HP:0007739 alt_id: HP:0007969 alt_id: HP:0008008 synonym: "Decreased central vision" EXACT [] synonym: "Decreased clarity of vision" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Decreased visual acuity" EXACT [] synonym: "Poor visual acuity" EXACT [] xref: SNOMEDCT_US:13164000 xref: UMLS:C0234632 is_a: HP:0000505 ! Visual impairment [Term] id: HP:0007676 name: Hypoplasia of the iris alt_id: HP:0000638 alt_id: HP:0007724 alt_id: HP:0007998 def: "Congenital underdevelopment of the iris." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Hypoplastic iris" EXACT [] synonym: "Iris hypoplasia" EXACT [] synonym: "Underdeveloped iris" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:95714006 xref: UMLS:C0344539 is_a: HP:0007700 ! Ocular anterior segment dysgenesis [Term] id: HP:0007686 name: Abnormal pupillary function def: "A functional abnormality of the pupil." [https://orcid.org/0000-0002-0736-9199] comment: It is preferable to describe the functional defect precisely. xref: MSH:D011681 xref: SNOMEDCT_US:72124005 xref: UMLS:C0917967 is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0007687 name: Unilateral ptosis def: "A unilateral form of ptosis." [https://orcid.org/0000-0002-0736-9199] synonym: "Dropping of one upper eyelid" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1866806 is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0007700 name: Ocular anterior segment dysgenesis alt_id: HP:0007696 alt_id: HP:0007699 alt_id: HP:0008040 def: "Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin." [HPO_CONTRIBUTOR:DDD_ncarter] comment: In anterior segment mesenchymal ocular dysgenesis (ASMOD), multiple tissues are affected, including the iris, cornea, and lens as well as the Schlemm's canal and trabecular meshwork drainage structures located at the anterior segment angle where the iris and cornea meet. These abnormalities may result from a primary defect in the migration and/or differentiation of the mesenchymal cells that contribute to development of the cornea, iris, and drainage structures. synonym: "Anterior chamber cleavage defect" EXACT [] synonym: "Anterior chamber cleavage disorder" EXACT [] synonym: "Anterior chamber malformation" EXACT [] synonym: "Anterior chamber mesodermal anomalies" EXACT [] synonym: "Anterior segment developmental abnormality" EXACT [] synonym: "Anterior segment dysgenesis" EXACT [] synonym: "Anterior segment mesencyhmal dysgenesis" EXACT [] synonym: "Anterior segment ocular dysgenesis" EXACT [] xref: SNOMEDCT_US:65075004 xref: UMLS:C0266525 is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0007716 name: Uveal melanoma def: "A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid)." [https://orcid.org/0000-0002-0736-9199] comment: WIth intraocular melanoma, the melanoma originates from melanocytic cells in the uveal layer, comprising the iris, ciliary body, and choroid. synonym: "Intraocular melanoma" EXACT [] xref: MSH:C536494 xref: NCIT:C3224 xref: UMLS:C0220633 is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0007722 name: Retinal pigment epithelial atrophy alt_id: HP:0007698 alt_id: HP:0008017 def: "Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1840457 is_a: HP:0001105 ! Retinal atrophy [Term] id: HP:0007750 name: Hypoplasia of the fovea def: "Underdevelopment of the fovea centralis." [https://orcid.org/0000-0002-0736-9199] comment: A dull foveal reflex is an unusual reflex of the foveal region on fundoscopy that may indicate hypoplasia of the fovea. synonym: "Foveal hypoplasia" EXACT [] xref: UMLS:C2673946 xref: UMLS:C4072863 is_a: HP:0001103 ! Abnormal macular morphology [Term] id: HP:0007754 name: Macular dystrophy alt_id: HP:0007638 alt_id: HP:0007798 alt_id: HP:0007914 alt_id: HP:0007919 alt_id: HP:0007999 def: "Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: UMLS:C0730292 is_a: HP:0001103 ! Abnormal macular morphology [Term] id: HP:0007777 name: Chorioretinal scar def: "Fibrous connective tissue resulting from incomplete healing of a wound (i.e., a scar) located in the choroid and retina or the eye." [] xref: SNOMEDCT_US:53854005 xref: UMLS:C0008512 is_a: HP:0100699 ! Scarring is_a: HP:0200065 ! Chorioretinal degeneration [Term] id: HP:0007780 name: Cortical pulverulent cataract def: "A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens." [https://orcid.org/0000-0002-0736-9199] synonym: "Cataracts, cortical pulverulent" EXACT [] xref: UMLS:C4021568 is_a: HP:0007648 ! Punctate cataract [Term] id: HP:0007803 name: Monochromacy alt_id: HP:0007954 def: "Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray." [https://orcid.org/0000-0001-8727-6592] comment: Rod monochromacy is the condition of having only rods in the retina. A rod monochromat is truly unable to see any color and can see only shades of grey. synonym: "Complete achromatopsia" EXACT [] synonym: "Total colorblindness" RELATED layperson [https://orcid.org/0000-0002-5316-1399] xref: MSH:C536128 xref: MSH:D003117 xref: SNOMEDCT_US:56852002 xref: UMLS:C0152200 xref: UMLS:C1857618 is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0007830 name: Adult-onset night blindness def: "Inability to see well at night or in poor light with onset in adulthood." [https://orcid.org/0000-0002-0736-9199] synonym: "Adult-onset night blindness" EXACT layperson [] xref: UMLS:C4024790 is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0007924 name: Slow decrease in visual acuity alt_id: HP:0007652 synonym: "Decreased visual acuity, slowly progressive" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Slow decrease in sharpness of vision" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Subacute deterioration of visual acuity" EXACT [] xref: UMLS:C1853141 xref: UMLS:C3278981 is_a: HP:0000529 ! Progressive visual loss [Term] id: HP:0007936 name: Restrictive external ophthalmoplegia alt_id: HP:0007846 alt_id: HP:0007959 alt_id: HP:0008025 def: "Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited." [https://orcid.org/0000-0002-0736-9199] synonym: "Restrictive external ophthalmoplegia, bilateral" RELATED [] synonym: "Restrictive ophthalmoplegia" EXACT [] xref: UMLS:C1865918 xref: UMLS:C4020806 is_a: HP:0000544 ! External ophthalmoplegia [Term] id: HP:0007957 name: Corneal opacity alt_id: HP:0007844 alt_id: HP:0007883 alt_id: HP:0008502 def: "A reduction of corneal clarity." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Corneal clouding" EXACT [] synonym: "Corneal opacities" EXACT [] synonym: "Reduction of corneal clarity" EXACT [] synonym: "Scarring or clouding of the cornea of the eye" EXACT [] xref: MSH:D003318 xref: SNOMEDCT_US:413921009 xref: SNOMEDCT_US:64634000 xref: SNOMEDCT_US:95735008 xref: UMLS:C0010038 xref: UMLS:C0521719 is_a: HP:0000481 ! Abnormal cornea morphology [Term] id: HP:0007968 name: Remnants of the hyaloid vascular system def: "Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Congenital retinal septum" EXACT [] synonym: "Persistent fetal vasculature" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Persistent foetal vasculature" EXACT uk_spelling [] synonym: "Persistent hyperplasia of primary vitreous" EXACT [] synonym: "Persistent hyperplastic primary vitreous" EXACT [] synonym: "Persistent hypertrophic primary vitreous" EXACT [] synonym: "Persistent posterior fetal fibrovascular sheath of the lens" EXACT [] synonym: "Persistent posterior foetal fibrovascular sheath of the lens" EXACT uk_spelling [] synonym: "Persistent tunica vasculosa lentis" EXACT [] xref: MSH:D054514 xref: SNOMEDCT_US:314270008 xref: SNOMEDCT_US:44647001 xref: SNOMEDCT_US:69927002 xref: UMLS:C0266568 is_a: HP:0004329 ! Abnormal posterior eye segment morphology [Term] id: HP:0007994 name: Peripheral visual field loss def: "Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision." [https://orcid.org/0000-0002-0736-9199] synonym: "Kalnienk vision" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Loss of peripheral vision" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Tunnel vision" RELATED layperson [] xref: SNOMEDCT_US:420990001 xref: UMLS:C0241688 xref: UMLS:C2937228 is_a: HP:0001123 ! Visual field defect [Term] id: HP:0008066 name: Abnormal blistering of the skin alt_id: HP:0007467 alt_id: HP:0007496 alt_id: HP:0200038 def: "The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls." [https://orcid.org/0000-0002-0736-9199, PMID:31596619] comment: A bulla is a large vesicle described as a rounded or irregularly shaped blister containing serous or seropurulent fluid, equal to or greater than 10mm. In approaching blistering diseases, there are 3 fundamental criteria to consider: (1) the site or level of the blister (or the lowest level of vesiculation): subcorneal, midepidermis, suprabasal, subepidermal; (2) the findings that implicate the mechanism of blister formation (spongiosis, acantholysis, blistering degeneration, or epidermolysis); and (3) the type of inflammation (neutrophilic, lymphocytic, eosinophilic, mixed), if present. synonym: "Abnormal blistering of the skin" EXACT layperson [] synonym: "Blister" EXACT [] synonym: "Blistering, generalised" EXACT uk_spelling [] synonym: "Blistering, generalized" EXACT layperson [] synonym: "Blisters" EXACT layperson [] synonym: "Skin blisters" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Skin bullae" EXACT [] xref: UMLS:C0241054 xref: UMLS:C2132198 xref: UMLS:C2220104 is_a: HP:0011121 ! Abnormal skin morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-02T03:54:00Z [Term] id: HP:0008067 name: Abnormally lax or hyperextensible skin synonym: "Abnormally loose or hyperelastic skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormally loose or stretchable skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024736 is_a: HP:0011121 ! Abnormal skin morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-02T03:56:00Z [Term] id: HP:0008081 name: Pes valgus def: "An outward deviation of the foot at the talocalcaneal or subtalar joint." [] comment: Valgus refers to the twisting outward of a bone or joint is twisted outward from the center of the body, whereas varus is a twisting toward the center of the body. synonym: "Valgus foot deformity" EXACT [] xref: SNOMEDCT_US:249803006 xref: SNOMEDCT_US:275344002 xref: UMLS:C1578482 is_a: HP:0001760 ! Abnormal foot morphology [Term] id: HP:0008110 name: Equinovarus deformity xref: MSH:D003025 xref: SNOMEDCT_US:249808002 xref: SNOMEDCT_US:397932003 xref: UMLS:C0009081 is_a: HP:0001760 ! Abnormal foot morphology [Term] id: HP:0008115 name: Clinodactyly of the 3rd toe def: "Bending or curvature of a third toe in the tibial direction (i.e., towards the big toe)." [https://orcid.org/0000-0002-0736-9199] synonym: "3rd toe clinodactyly" EXACT [] synonym: "Curvature of 3rd toe" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021555 xref: UMLS:C4280416 is_a: HP:0001863 ! Toe clinodactyly [Term] id: HP:0008158 name: Hyperapobetalipoproteinemia def: "Hyperapobetalipoproteinemia is defined as the combination of a normal low density lipoprotein (LDL) cholesterol in the face of an increased LDL apolipoprotein B (apoB) protein." [https://orcid.org/0000-0002-0736-9199, PMID:6579550] xref: MSH:D006950 xref: SNOMEDCT_US:238040008 xref: SNOMEDCT_US:299465007 xref: UMLS:C0020474 is_a: HP:0003119 ! Abnormal circulating lipid concentration [Term] id: HP:0008209 name: Premature ovarian insufficiency alt_id: HP:0001587 alt_id: HP:0100805 def: "Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea." [https://orcid.org/0000-0002-0736-9199] comment: The causes of primary ovarian insuficiency (POI) include chromosomal and genetic defects, autoimmune processes, chemotherapy, radiation, infections and surgery, but many are unidentified (idiopathic). The age of 40 is set by convention but is supported by clinical observations. From a statistical point of view, the age limit of 40 is approximately two standard deviations (SD) below the average age at natural menopause (50 plus/minus 4 years). synonym: "Climacterium praecox" EXACT [] synonym: "Early menopause" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hypergonadotropic amenorrhea" EXACT [] synonym: "Menopause praecox" EXACT [] synonym: "Premature menopause" EXACT layperson [] synonym: "Premature ovarian failure" EXACT layperson [] synonym: "Primary ovarian insufficiency" EXACT [] xref: MSH:D008594 xref: MSH:D016649 xref: SNOMEDCT_US:373717006 xref: UMLS:C0025322 xref: UMLS:C0085215 is_a: HP:0000078 ! Abnormality of the genital system [Term] id: HP:0008250 name: obsolete Infantile hypercalcemia is_obsolete: true replaced_by: HP:0003072 [Term] id: HP:0008277 name: Abnormal blood zinc concentration def: "An abnormality of zinc ion homeostasis." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal zinc metabolism" RELATED [] synonym: "Abnormality of zinc homeostasis" EXACT [] xref: UMLS:C4020802 xref: UMLS:C4024711 is_a: HP:0003111 ! Abnormal blood ion concentration [Term] id: HP:0008316 name: Abnormal mitochondria in muscle tissue def: "An abnormality of the mitochondria in muscle tissue." [https://orcid.org/0000-0002-0736-9199] comment: This finding is typically demonstrated by muscle biopsy. synonym: "Abnormal mitochondria in muscle" EXACT [] xref: UMLS:C4021546 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism is_a: HP:0011805 ! Abnormal skeletal muscle morphology [Term] id: HP:0008348 name: Decreased circulating IgG2 level alt_id: HP:0008310 def: "A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased IgG2 level in blood" EXACT [] synonym: "Immunoglobulin IgG2 deficiency" EXACT [] synonym: "Reduced IgG2 levels" EXACT [] xref: UMLS:C4021545 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues is_a: HP:0002715 ! Abnormality of the immune system is_a: HP:0011017 ! Abnormal cellular physiology [Term] id: HP:0008365 name: Abnormal talus morphology def: "An abnormality of the talus." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal large bone of ankle" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4024688 is_a: HP:0001760 ! Abnormal foot morphology is_a: HP:0011842 ! Abnormal skeletal morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-04T11:43:00Z [Term] id: HP:0008386 name: Aplasia/Hypoplasia of the nails alt_id: HP:0008385 def: "Aplasia or developmental hypoplasia of the nail." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/hypoplastic nails" EXACT [] synonym: "Absent/small nails" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Absent/underdeveloped nails" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Nail aplasia/hypoplasia" EXACT [] xref: UMLS:C1859077 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0008388 name: Abnormal toenail morphology def: "An anomaly of the toenail." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the toenail" EXACT layperson [] synonym: "Abnormality of the toenails" EXACT layperson [] xref: SNOMEDCT_US:700189007 xref: UMLS:C3839753 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0008404 name: Nail dystrophy alt_id: HP:0008382 alt_id: HP:0008397 alt_id: HP:0008408 def: "Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate." [PMID:19675700] comment: Onychodystrophy is a widely used, yet rarely defined term. Onychodystrophy can be caused by congenital nail diseases, systemic disorders, fungal and nonfungal infections, various noninfectious inflammatory dermatologic diseases of the nail unit and tumors. Onychodystrophy can also occur secondarily to systemic drug use. synonym: "Dystrophic nails" EXACT [] synonym: "Onychodystrophy" EXACT [] synonym: "Poor nail formation" EXACT layperson [http://naildystrophy.com/, https://orcid.org/0000-0001-5208-3432] xref: MEDDRA:10028698 "Nail dystrophy" xref: SNOMEDCT_US:87065009 xref: UMLS:C0221260 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0008419 name: Intervertebral disc degeneration def: "The presence of degenerative changes of intervertebral disk." [https://orcid.org/0000-0002-0736-9199] synonym: "Degeneration of intervertebral discs" EXACT uk_spelling [] synonym: "Degeneration of intervertebral disks" EXACT [] synonym: "Degenerative disc disease" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Degenerative intervertebral disc" EXACT uk_spelling [] synonym: "Degenerative intervertebral disk" EXACT [] xref: MSH:D055959 xref: SNOMEDCT_US:77547008 xref: UMLS:C0158266 is_a: HP:0000925 ! Abnormality of the vertebral column property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0008443 name: Neuropathic spinal arthropathy def: "A progressive disorder of vertebral joint degeneration that occurs in the setting of any condition characterized by decreased afferent innervation, involving loss of deep pain and proprioceptive sensation in the vertebral column. Patients most commonly present with symptoms of lower back pain, sitting imbalance, progressive spinal deformity (usually kyphosis), and an audible clicking sound on changing postures." [PMID:29755231] comment: Neuropathic spinal arthropathy presents almost exclusively in patients who have suffered traumatic spinal cord injury or less commonly, secondary to syringomyelia, meningocele, myelomeningocele, diabetes mellitus, peripheral neuropathies, anesthetic leprosy, congenital analgesia, Parkinson's disease, arachnoiditis, transverse myelitis, and others. synonym: "Charcot spinal arthropathy" EXACT [] synonym: "Spinal deformities" EXACT [] synonym: "Spinal neuroarthropathy" EXACT [] xref: SNOMEDCT_US:298380006 xref: UMLS:C0575157 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0008504 name: Moderate sensorineural hearing impairment def: "The presence of a moderate form of sensorineural hearing impairment." [https://orcid.org/0000-0002-0736-9199] synonym: "Moderate neural deafness" RELATED [] xref: UMLS:C4020798 xref: UMLS:C4024664 is_a: HP:0000407 ! Sensorineural hearing impairment [Term] id: HP:0008513 name: Bilateral conductive hearing impairment alt_id: HP:0008536 def: "A bilateral type of conductive hearing impairment." [https://orcid.org/0000-0002-0736-9199] synonym: "Bilateral conductive deafness" EXACT [] synonym: "Bilateral conductive hearing loss" EXACT [] xref: SNOMEDCT_US:194417009 xref: UMLS:C0452136 is_a: HP:0000405 ! Conductive hearing impairment [Term] id: HP:0008527 name: Congenital sensorineural hearing impairment alt_id: HP:0004455 alt_id: HP:0004457 alt_id: HP:0008520 alt_id: HP:0008521 alt_id: HP:0008540 alt_id: HP:0008543 alt_id: HP:0008545 alt_id: HP:0008546 alt_id: HP:0008556 alt_id: HP:0008558 alt_id: HP:0008561 alt_id: HP:0008571 alt_id: HP:0008603 alt_id: HP:0008612 alt_id: HP:0008620 def: "A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset." [https://orcid.org/0000-0002-0736-9199] synonym: "Bilateral congenital sensorineural deafness" EXACT [] synonym: "Congenital neurosensory deafness" EXACT [] synonym: "Congenital perceptive deafness" EXACT [] synonym: "Congenital sensorineural deafness" EXACT [] synonym: "Congenital sensorineural hearing loss" EXACT [] synonym: "Hearing loss, congenital sensorineural" EXACT [] xref: SNOMEDCT_US:700453005 xref: UMLS:C1865866 is_a: HP:0000407 ! Sensorineural hearing impairment [Term] id: HP:0008625 name: Severe sensorineural hearing impairment alt_id: HP:0008534 alt_id: HP:0008574 def: "A severe form of sensorineural hearing impairment." [https://orcid.org/0000-0002-0736-9199] synonym: "Severe sensorineural deafness" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Severe sensorineural hearing loss" EXACT [] xref: UMLS:C4021533 is_a: HP:0000407 ! Sensorineural hearing impairment [Term] id: HP:0008672 name: Calcium oxalate nephrolithiasis alt_id: HP:0008700 alt_id: HP:0008725 def: "The presence of calcium- and oxalate-containing calculi (stones) in the kidneys." [https://orcid.org/0000-0002-0736-9199] synonym: "Ca oxalate kidney stone" EXACT abbreviation [] synonym: "Ca oxalate nephrolithiasis" EXACT abbreviation [] synonym: "Ca oxalate urolithiasis" EXACT abbreviation [] synonym: "Ca2+ oxalate kidney stone" EXACT abbreviation [] synonym: "Ca2+ oxalate nephrolithiasis" EXACT abbreviation [] synonym: "Ca2+ oxalate urolithiasis" EXACT abbreviation [] synonym: "Calcium oxalate kidney stones" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Calcium oxalate urolithiasis" RELATED [] synonym: "Oxalate nephrolithiasis" EXACT [] xref: MSH:C563477 xref: SNOMEDCT_US:444717006 xref: UMLS:C1833683 xref: UMLS:C4280806 is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0008734 name: Decreased testicular size alt_id: HP:0000043 def: "Reduced volume of the testicle (the male gonad)." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased testicular size" EXACT layperson [] synonym: "Hypoplastic testes" EXACT [] synonym: "Small testes" EXACT layperson [] synonym: "Small testis" EXACT layperson [] synonym: "Testicular hypoplasia" EXACT [] xref: SNOMEDCT_US:276411001 xref: UMLS:C0241355 is_a: HP:0000078 ! Abnormality of the genital system [Term] id: HP:0008770 name: Obsessive-compulsive trait alt_id: HP:0008761 def: "The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant." [https://orcid.org/0000-0002-0736-9199] synonym: "Obsessive-compulsive trait" EXACT layperson [] synonym: "Obsessive-compulsive traits" EXACT layperson [] xref: UMLS:C1834433 is_a: HP:0000708 ! Atypical behavior property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0008846 name: Severe intrauterine growth retardation alt_id: HP:0008899 alt_id: HP:0008906 def: "Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age." [https://orcid.org/0000-0002-0736-9199] synonym: "Intrauterine growth retardation, severe" EXACT [] synonym: "Severe prenatal growth deficiency" EXACT layperson [] xref: UMLS:C1855843 is_a: HP:0001510 ! Growth delay [Term] id: HP:0008872 name: Feeding difficulties in infancy alt_id: HP:0002016 alt_id: HP:0002022 alt_id: HP:0002568 def: "Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C2674608 is_a: HP:0011968 ! Feeding difficulties [Term] id: HP:0008873 name: Disproportionate short-limb short stature alt_id: HP:0001523 alt_id: HP:0003505 alt_id: HP:0003509 alt_id: HP:0008858 alt_id: HP:0008869 alt_id: HP:0008875 alt_id: HP:0008880 alt_id: HP:0008881 alt_id: HP:0008889 alt_id: HP:0008912 alt_id: HP:0008914 alt_id: HP:0008928 def: "A type of disproportionate short stature characterized by a short limbs but an average-sized trunk." [https://orcid.org/0000-0002-0736-9199] comment: A type of dwarfism (marked short stature with adult height below 147 cm) in which the limbs are disproportionatley affected. Note that brachymelia is a general term refering to shortening of the limbs. Micromelia refers to the shortening of entire limbs (in contrast to rhizomelia, mesomelia, and acromelia, which refer to shortening of the proximal, middle, or distal portions of the limbs). subset: hposlim_core synonym: "Brachymelic dwarfism" EXACT [] synonym: "Disproportionate short limb dwarfism" EXACT [] synonym: "Dwarfism, short-limbed" EXACT [] synonym: "Micromelic dwarfism" EXACT [] synonym: "Short limb dwarfism" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Short limb dwarfism, disproportionate" EXACT layperson [] synonym: "Short stature, disproportionate short limb" EXACT [] synonym: "Short stature, disproportionate short-limb" EXACT [] synonym: "Short-limb dwarfism" EXACT [] synonym: "Short-limbed dwarfism" EXACT layperson [] xref: UMLS:C1849937 is_a: HP:0004322 ! Short stature [Term] id: HP:0008897 name: Postnatal growth retardation alt_id: HP:0008844 alt_id: HP:0008865 alt_id: HP:0008868 alt_id: HP:0008901 alt_id: HP:0008918 def: "Slow or limited growth after birth." [https://orcid.org/0000-0002-6410-0882] synonym: "Growth delay as children" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Growth retardation as children" EXACT [] synonym: "Postnatal growth deceleration" EXACT [] synonym: "Postnatal growth deficiency" EXACT [] synonym: "Postnatal growth failure" EXACT [] xref: UMLS:C1859778 is_a: HP:0001510 ! Growth delay [Term] id: HP:0008909 name: Lethal short-limbed short stature alt_id: HP:0003506 synonym: "Lethal micromelic dwarfism" EXACT [] synonym: "Lethal short-limbed dwarfism" EXACT [] xref: UMLS:C2674171 is_a: HP:0008873 ! Disproportionate short-limb short stature [Term] id: HP:0008935 name: Generalized neonatal hypotonia def: "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature." [https://orcid.org/0000-0002-0736-9199] synonym: "Generalised low muscle tone in neonate" EXACT uk_spelling [] synonym: "Generalised neonatal hypotonia" EXACT uk_spelling [] synonym: "Generalized low muscle tone in neonate" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hypotonia, neonatal, generalised" EXACT uk_spelling [] synonym: "Hypotonia, neonatal, generalized" EXACT [] xref: UMLS:C1845123 is_a: HP:0001319 ! Neonatal hypotonia [Term] id: HP:0008936 name: Axial hypotonia alt_id: HP:0002320 def: "Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk." [https://orcid.org/0000-0002-0736-9199] synonym: "Low muscle tone in trunk" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Muscular hypotonia of the trunk" EXACT [] synonym: "Truncal hypotonia" EXACT [] xref: UMLS:C1853743 is_a: HP:0001252 ! Hypotonia [Term] id: HP:0008942 name: Acute rhabdomyolysis def: "An acute form of rhabdomyolysis." [https://orcid.org/0000-0002-0736-9199] synonym: "Rhabdomyolysis, acute" EXACT [] xref: UMLS:C3807306 is_a: EFO:0003867 ! rhabdomyolysis is_a: HP:0011805 ! Abnormal skeletal muscle morphology [Term] id: HP:0008947 name: Infantile muscular hypotonia alt_id: HP:0002449 alt_id: HP:0002523 alt_id: HP:0010572 def: "Muscular hypotonia (abnormally low muscle tone) manifesting in infancy." [https://orcid.org/0000-0002-0736-9199] comment: This term should not be used for new annotations. Instead, state the type of onset of hypotonia more exactly. synonym: "Decreased muscle tone in infant" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hypotonia early" EXACT [] synonym: "Hypotonia in infancy" EXACT [] synonym: "Hypotonia, early" EXACT [] synonym: "Infantile hypotonia" EXACT [] xref: UMLS:C1860834 is_a: HP:0001252 ! Hypotonia [Term] id: HP:0008955 name: Progressive distal muscular atrophy def: "Progressive muscular atrophy affecting muscles in the distal portions of the extremities." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024613 is_a: HP:0003202 ! Skeletal muscle atrophy [Term] id: HP:0008956 name: Proximal lower limb amyotrophy alt_id: HP:0003748 alt_id: HP:0008974 def: "Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh." [https://orcid.org/0000-0002-0736-9199] synonym: "Amyotrophy involving the thigh" EXACT [] synonym: "Amyotrophy of the thigh musculature" EXACT [] synonym: "Proximal lower limb muscle atrophy" EXACT [] synonym: "Thigh muscle atrophy" EXACT [] synonym: "Wasting of thigh muscle" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1836767 is_a: HP:0002814 ! Abnormality of the lower limb is_a: HP:0007126 ! Proximal amyotrophy [Term] id: HP:0008967 name: Exercise-induced muscle stiffness alt_id: HP:0003633 def: "A type of muscle stiffness that occurs following physical exertion." [https://orcid.org/0000-0002-0736-9199] synonym: "Exercise-induced muscle stiffness" EXACT layperson [] synonym: "Muscle stiffness with exercise" EXACT layperson [] synonym: "Muscle stiffness, exercise-induced" EXACT layperson [] xref: UMLS:C1855579 is_a: HP:0011804 ! Abnormal muscle physiology [Term] id: HP:0008970 name: Scapulohumeral muscular dystrophy xref: MSH:C562932 xref: SNOMEDCT_US:240074006 xref: UMLS:C0410192 is_a: HP:0011805 ! Abnormal skeletal muscle morphology [Term] id: HP:0008981 name: Calf muscle hypertrophy alt_id: HP:0003703 alt_id: HP:0009024 def: "Muscle hypertrophy affecting the calf muscles." [https://orcid.org/0000-0002-0736-9199] comment: Distal lower limb hypertrophy synonym: "Calf hypertrophy" EXACT [] synonym: "Increased size of calf muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Muscular hypertrophy of the calf muscles" EXACT [] xref: UMLS:C1843057 is_a: HP:0002814 ! Abnormality of the lower limb is_a: HP:0030236 ! Abnormality of muscle size [Term] id: HP:0008994 name: Proximal muscle weakness in lower limbs alt_id: HP:0002455 alt_id: HP:0008941 def: "A lack of strength of the proximal muscles of the legs." [https://orcid.org/0000-0002-0736-9199] synonym: "Muscle weakness, proximal, lower limbs" EXACT [] xref: UMLS:C1866010 is_a: HP:0003690 ! Limb muscle weakness [Term] id: HP:0008997 name: Proximal muscle weakness in upper limbs def: "A lack of strength of the proximal muscles of the arms." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1866012 is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0003690 ! Limb muscle weakness [Term] id: HP:0009020 name: Exercise-induced muscle fatigue def: "An abnormally increased tendency towards muscle fatigue induced by physical exercise." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1855580 is_a: HP:0011804 ! Abnormal muscle physiology [Term] id: HP:0009027 name: Foot dorsiflexor weakness alt_id: HP:0003377 def: "Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles." [https://orcid.org/0000-0002-0736-9199] comment: Dorsiflexion of the foot extends the foot superiorly, as if taking the foot off the gas pedal. synonym: "Foot drop" EXACT layperson [] synonym: "Foot extensor weakness" EXACT [] synonym: "Footdrop" EXACT [] synonym: "Inability to heel walk" EXACT layperson [] synonym: "Inability to walk on heels" EXACT layperson [] xref: SNOMEDCT_US:6077001 xref: UMLS:C0085684 xref: UMLS:C1866141 is_a: HP:0003690 ! Limb muscle weakness [Term] id: HP:0009028 name: Generalized weakness of limb muscles def: "Generalized weakness of the muscles of the arms and legs." [https://orcid.org/0000-0002-0736-9199] synonym: "Generalised weakness of limb muscles" EXACT uk_spelling [] xref: UMLS:C4024605 is_a: HP:0011805 ! Abnormal skeletal muscle morphology is_a: HP:0040064 ! Abnormality of limbs [Term] id: HP:0009045 name: Exercise-induced rhabdomyolysis def: "Rhabdomyolysis induced by exercise." [https://orcid.org/0000-0002-0736-9199] synonym: "Rhabdomyolysis with exercise" EXACT [] xref: UMLS:C4021526 is_a: HP:0011805 ! Abnormal skeletal muscle morphology [Term] id: HP:0009049 name: Peroneal muscle atrophy alt_id: HP:0008939 alt_id: HP:0008982 def: "Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius)." [https://orcid.org/0000-0002-0736-9199] comment: The peroneus muscles (longus, brevis, and tertius) originate on the fibula and insert on the metatarsals. synonym: "Peroneal atrophy" EXACT [] xref: UMLS:C1389118 is_a: HP:0002814 ! Abnormality of the lower limb is_a: HP:0003202 ! Skeletal muscle atrophy [Term] id: HP:0009053 name: Distal lower limb muscle weakness alt_id: HP:0003485 alt_id: HP:0009035 def: "Reduced strength of the distal musculature of the legs." [https://orcid.org/0000-0002-0736-9199] comment: This finding can be due to peripheral neuropathy. synonym: "Distal muscle weakness in lower limbs" EXACT [] synonym: "Muscle weakness, lower limb, distal" EXACT [] xref: UMLS:C1836450 is_a: HP:0002460 ! Distal muscle weakness is_a: HP:0002814 ! Abnormality of the lower limb is_a: HP:0007340 ! Lower limb muscle weakness [Term] id: HP:0009063 name: Progressive distal muscle weakness alt_id: HP:0008933 alt_id: HP:0009022 alt_id: HP:0009057 def: "Progressively reduced strength of the distal musculature." [https://orcid.org/0000-0002-0736-9199] synonym: "Muscle weakness, distal, progressive" EXACT [] synonym: "Muscle weakness, progressive, distal" EXACT [] xref: UMLS:C1836609 is_a: HP:0002460 ! Distal muscle weakness [Term] id: HP:0009087 name: Posteriorly placed tongue synonym: "Posteriorly placed tongue" EXACT layperson [] xref: UMLS:C4024600 is_a: HP:0000157 ! Abnormality of the tongue [Term] id: HP:0009088 name: Speech articulation difficulties def: "Impairment in the physical production of speech sounds." [] comment: Speech articulation difficulties can result from abnormalities of the vocal tract (the larynx and the pharyngeal, oral, and nasal cavities). xref: UMLS:C1865313 is_a: HP:0011446 ! Abnormality of mental function property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-2592-4715 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-9593-5508 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389 [Term] id: HP:0009124 name: Abnormal adipose tissue morphology def: "An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of adipose tissue" EXACT layperson [] synonym: "Abnormality of fat tissue" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of fatty tissue" EXACT layperson [] xref: UMLS:C4021524 is_a: HP:0003549 ! Abnormality of connective tissue property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-05T11:40:00Z [Term] id: HP:0009130 name: Hand muscle atrophy alt_id: HP:0006967 alt_id: HP:0008934 alt_id: HP:0008951 alt_id: HP:0009038 def: "Muscular atrophy involving the muscles of the hand." [https://orcid.org/0000-0002-0736-9199] comment: This term can be used to described bilateral amyotrophy of the musculature of the hand. synonym: "Amyotrophy involving the musculature of the hand" EXACT [] synonym: "Amyotrophy of hand muscles" EXACT [] synonym: "Hand muscle degeneration" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hand muscle wasting" EXACT [] synonym: "Hand muscle wasting, bilateral" EXACT [] xref: UMLS:C0239830 is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0003202 ! Skeletal muscle atrophy property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T05:01:00Z [Term] id: HP:0009487 name: Ulnar deviation of the hand def: "Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger)." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] subset: hposlim_core synonym: "Ulnar deviation of hands" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Ulnar deviation of the hands" EXACT [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:249757009 xref: UMLS:C0241521 is_a: HP:0002817 ! Abnormality of the upper limb property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-15T10:51:52Z [Term] id: HP:0009588 name: Vestibular schwannoma def: "A vestibular schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Acoustic Neuroma" EXACT [] synonym: "Vestibular neurilemmoma" EXACT [] synonym: "Vestibular neurinoma" EXACT [] synonym: "Vestibular neurolemmoma" EXACT [] synonym: "Vestibular Schwann cell tumor" EXACT [] synonym: "Vestibular Schwann cell tumour" EXACT uk_spelling [] xref: MSH:D009464 xref: NCIT:C3269 xref: SNOMEDCT_US:126949007 xref: SNOMEDCT_US:985004 xref: UMLS:C0027859 is_a: HP:0000359 ! Abnormality of the inner ear is_a: HP:0000707 ! Abnormality of the nervous system property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-28T10:37:32Z [Term] id: HP:0009601 name: Aplasia/Hypoplasia of the thumb alt_id: HP:0002950 alt_id: HP:0006225 def: "Hypoplastic/small or absent thumb." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent or hypoplastic thumbs" EXACT [] synonym: "Absent/hypoplastic thumb" EXACT [] synonym: "Absent/hypoplastic thumbs" EXACT [] synonym: "Absent/small thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Aplasia/hypoplasia of thumbs" EXACT [] synonym: "Aplastic/hypoplastic thumbs" EXACT [] synonym: "Hypoplastic to aplastic thumbs" EXACT [] synonym: "Hypoplastic/absent thumb" EXACT [] synonym: "Thumb aplasia/hypoplasia" EXACT [] xref: MSH:C536903 xref: UMLS:C3179508 is_a: HP:0001172 ! Abnormal thumb morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T01:08:24Z [Term] id: HP:0009623 name: Proximal placement of thumb alt_id: HP:0001170 alt_id: HP:0005668 def: "Proximal mislocalization of the thumb." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] comment: Thumb placement index greater than 0.55; or, the base of the thumb appears closer to the wrist than is typical. The technique for the thumb placement index is described in detail [Malina et al., 1973; Hall et al., 2007]. Briefly, the thumb placement index is the distance from the proximal crease of the index finger to the angle of the first interdigital space divided by the distance from the proximal crease of the index finger to the wrist flexion crease at the base of the thumb. This term should not be used with Preaxial polydactyly. subset: hposlim_core synonym: "Attachment of thumb close to wrist" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Low implantation of the thumb" EXACT [] synonym: "Low-set thumb" EXACT [] synonym: "Proximally placed thumbs" EXACT [] xref: UMLS:C1865572 is_a: HP:0001172 ! Abnormal thumb morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T04:40:23Z [Term] id: HP:0009717 name: Cortical tubers def: "Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1968959 is_a: HP:0012443 ! Abnormal brain morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T12:03:16Z [Term] id: HP:0009720 name: Adenoma sebaceum def: "The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin." [https://orcid.org/0000-0002-0736-9199] comment: Facial angiofibromas, also known as adenoma sebaceum, are reddish papillary lesions (fibrous skin tumors) that are found around the nose, cheeks, and chin and considered to be characteristic of tuberous sclerosis. synonym: "Facial angiofibromas" EXACT [] synonym: "Sebaceous adenoma" EXACT [] synonym: "Sebaceous adenomas" RELATED [https://orcid.org/0000-0002-5316-1399] xref: MSH:D014402 xref: SNOMEDCT_US:36025004 xref: SNOMEDCT_US:78424008 xref: UMLS:C0265319 xref: UMLS:C1368816 is_a: HP:0000271 ! Abnormality of the face is_a: HP:0000951 ! Abnormality of the skin property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T12:19:37Z [Term] id: HP:0009722 name: Dental enamel pits def: "The presence of small depressions in the dental enamel." [https://orcid.org/0000-0002-0736-9199] synonym: "Dental enamel pits" EXACT layperson [] synonym: "Dental enamel pitting" EXACT [] synonym: "Pitting of tooth enamel" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Tooth enamel pits" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1860711 is_a: HP:0000682 ! Abnormal dental enamel morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T09:44:34Z [Term] id: HP:0009736 name: Tibial pseudarthrosis def: "Pseudarthrosis, or \"false joint\" of the tibia is the result of a developmental failure in the tibia progressing to spontaneous fracture and subsequent fibrous nonunion. The fracture is rarely present at birth but commonly develops during the first 18 months of life." [https://orcid.org/0000-0002-0736-9199, PMID:30996736] synonym: "Tibial pseudoarthrosis" EXACT [] xref: UMLS:C4024216 is_a: HP:0002814 ! Abnormality of the lower limb is_a: HP:0011842 ! Abnormal skeletal morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T11:22:24Z [Term] id: HP:0009737 name: Lisch nodules def: "The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris.." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Iris hamartomas" EXACT [] xref: UMLS:C1860334 is_a: HP:0000271 ! Abnormality of the face is_a: HP:0000478 ! Abnormality of the eye property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T11:45:04Z [Term] id: HP:0009748 name: Large earlobe alt_id: HP:0004449 alt_id: HP:0004456 def: "Increased volume of the earlobe, that is, abnormally prominent ear lobules." [https://orcid.org/0000-0002-0736-9199, PMID:19152421] comment: All gradations in size of the earlobe may be seen from absent to clearly enlarged compared to average. This finding is highly variable. Lobe size increases throughout adulthood. subset: hposlim_core synonym: "Fleshy earlobe" EXACT layperson [] synonym: "Fleshy earlobes" EXACT layperson [] synonym: "Large earlobe" EXACT layperson [] synonym: "Prominent ear lobes" EXACT layperson [] synonym: "Prominent ear lobules" EXACT layperson [] xref: UMLS:C1844573 is_a: HP:0000363 ! Abnormal earlobe morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T04:02:42Z [Term] id: HP:0009762 name: Facial wrinkling def: "Excessive wrinkling of the skin of the face." [https://orcid.org/0000-0002-0736-9199] synonym: "Facial wrinkling" EXACT layperson [] xref: SNOMEDCT_US:248194004 xref: UMLS:C0262478 is_a: EFO:0004743 ! facial morphology is_a: HP:0011121 ! Abnormal skin morphology property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-02-01T03:12:09Z [Term] id: HP:0009763 name: Limb pain def: "Chronic pain in the limbs with no clear focal etiology." [https://orcid.org/0000-0002-0736-9199] synonym: "Limb pain" EXACT layperson [] synonym: "Pain in extremities" RELATED layperson [] xref: SNOMEDCT_US:90834002 xref: UMLS:C0030196 is_a: EFO:0003843 ! pain is_a: HP:0000924 ! Abnormality of the skeletal system is_a: HP:0025142 ! Constitutional symptom property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-02-01T03:55:10Z [Term] id: HP:0009778 name: Short thumb alt_id: HP:0001183 alt_id: HP:0001186 alt_id: HP:0001589 alt_id: HP:0005699 alt_id: HP:0006151 alt_id: HP:0009628 def: "Hypoplasia (congenital reduction in size) of the thumb." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Hypoplastic thumb" EXACT [] synonym: "Hypoplastic thumbs" EXACT [] synonym: "Hypoplastic/small thumb" EXACT [] synonym: "Short thumb" EXACT layperson [] synonym: "Short thumbs" EXACT layperson [] synonym: "Small thumbs" EXACT layperson [] synonym: "Thumb brachydactyly" EXACT [] synonym: "Thumb hypoplasia" EXACT [] xref: MSH:C536903 xref: SNOMEDCT_US:253936008 xref: UMLS:C0431890 is_a: HP:0009601 ! Aplasia/Hypoplasia of the thumb property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-02T05:46:42Z [Term] id: HP:0009779 name: 3-4 toe syndactyly alt_id: HP:0004708 def: "Syndactyly with fusion of toes three and four." [https://orcid.org/0009-0006-4530-3154] synonym: "syndactyly of 3rd - 4th toes" EXACT [] synonym: "Webbed 3rd-4th toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1834062 is_a: HP:0001770 ! Toe syndactyly property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-02-03T04:43:16Z [Term] id: HP:0009800 name: Maternal diabetes def: "Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes." [https://orcid.org/0000-0002-0736-9199] synonym: "gestational diabetes" EXACT layperson [] synonym: "Maternal diabetes" EXACT layperson [] synonym: "maternal hyperglycemia" NARROW [] xref: MSH:D016640 xref: SNOMEDCT_US:11687002 xref: UMLS:C0085207 xref: UMLS:C4020778 is_a: HP:0000818 ! Abnormality of the endocrine system is_a: HP:0001952 ! Glucose intolerance property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-12T05:44:58Z [Term] id: HP:0009803 name: Short phalanx of finger alt_id: HP:0001168 alt_id: HP:0005771 alt_id: HP:0006087 alt_id: HP:0006126 def: "Short (hypoplastic) phalanx of finger, affecting one or more phalanges." [https://orcid.org/0009-0006-4530-3154] synonym: "Hypoplastic phalanges" EXACT [] synonym: "Hypoplastic phalanges of hands" EXACT [] synonym: "Hypoplastic/small phalanges of the hand" EXACT [] synonym: "Phalangeal hypoplasia" EXACT [] synonym: "Rudimentary phalanges" EXACT [] synonym: "Short finger bones" EXACT layperson [] synonym: "Short phalanges" EXACT [] synonym: "Shortened phalanges" EXACT [] xref: UMLS:C0877165 is_a: HP:0001167 ! Abnormal finger morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-12T05:57:11Z [Term] id: HP:0009804 name: Tooth agenesis def: "The absence of one or more teeth from the normal series by a failure to develop" [https://orcid.org/0009-0006-4530-3154, PMID:31468724] comment: Teeth agenesis needs to be confirmed by X-rays. Teeth agenesis encompasses hypodontia, oligodontia, and anodontia. The total number and the type of teeth missing should be added to the description. The clinical absence of a tooth due to a disturbed eruption should not be termed teeth agenesis but a missing tooth. synonym: "Decreased number of teeth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased tooth count" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Dental agenesis" EXACT [] synonym: "Failure of development of some teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Fewer teeth than normal" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Missing some teeth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Reduced number of teeth" EXACT layperson [] synonym: "Teeth, agenesis" EXACT plural_form [] xref: UMLS:C4024202 xref: UMLS:C4083050 is_a: HP:0000164 ! Abnormality of the dentition creation_date: 2009-02-14T06:20:53Z [Term] id: HP:0009810 name: Abnormality of upper limb joint synonym: "Abnormality of the joints of the upper limbs" EXACT layperson [] synonym: "Abnormality of upper limb joint" EXACT layperson [] xref: UMLS:C4021387 is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0011842 ! Abnormal skeletal morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-23T04:57:56Z [Term] id: HP:0009816 name: Lower limb undergrowth alt_id: HP:0003087 alt_id: HP:0005884 alt_id: HP:0006399 def: "Leg shortening because of underdevelopment of one or more bones of the lower extremity." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplasia involving bones of the lower limbs" EXACT [] synonym: "Hypoplasia of the lower limbs" EXACT [] synonym: "Lower limb undergrowth" EXACT layperson [] synonym: "Underdeveloped lower limb bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:253959002 xref: UMLS:C0345371 is_a: HP:0002814 ! Abnormality of the lower limb is_a: HP:0009826 ! Limb undergrowth property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-23T05:09:32Z [Term] id: HP:0009824 name: Upper limb undergrowth alt_id: HP:0003056 alt_id: HP:0006364 def: "Arm shortening because of underdevelopment of one or more bones of the upper extremity." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplasia involving bones of the upper limbs" EXACT [] synonym: "Short arms" EXACT layperson [] synonym: "Shortening of the arms" EXACT layperson [] synonym: "Upper limb undergrowth" EXACT layperson [] xref: UMLS:C1837406 is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0009826 ! Limb undergrowth property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-23T05:13:20Z [Term] id: HP:0009826 name: Limb undergrowth alt_id: HP:0003058 alt_id: HP:0005049 alt_id: HP:0005057 def: "Limb shortening because of underdevelopment of one or more bones of the extremities." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplasia involving bones of the extremities" EXACT [] synonym: "limb shortening" EXACT layperson [] synonym: "Limb undergrowth" EXACT layperson [] synonym: "Short limb" EXACT layperson [] synonym: "Short limbs" EXACT layperson [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C0239399 is_a: HP:0011842 ! Abnormal skeletal morphology is_a: HP:0040064 ! Abnormality of limbs property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-23T05:16:44Z [Term] id: HP:0009890 name: High anterior hairline def: "Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella." [PMID:19125436] comment: This feature gives the appearance of a tall forehead, and may or may not include reduction of hair in the temporal areas. This can be distinguished from male pattern baldness as the hairline is the superior boundary of the muscular forehead, which can be actively wrinkled, in contrast to the scalp where no wrinkling can occur. In addition, texture of the skin of the scalp differs from the texture of the skin over the forehead. subset: hposlim_core synonym: "High frontal hairline" EXACT layperson [] xref: UMLS:C3276036 is_a: HP:0000271 ! Abnormality of the face is_a: HP:0010720 ! Abnormal hair pattern property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-04-30T06:34:27Z [Term] id: HP:0009907 name: Attached earlobe def: "Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward." [PMID:19152421] comment: The earlobe does not have a dependent portion. subset: hposlim_core synonym: "Adherent earlobe" EXACT [] synonym: "Attached earlobe" EXACT layperson [] xref: UMLS:C4021375 is_a: HP:0000363 ! Abnormal earlobe morphology property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-01T02:57:50Z [Term] id: HP:0009908 name: Anterior creases of earlobe alt_id: HP:0008604 def: "Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe." [PMID:19152421] comment: Shallow grooves or indentations are quite common, especially in large lobes. Ear lobe creases may arise postnatally. Posterior helical pits can be a related finding but should be assessed and coded separately. subset: hposlim_core synonym: "Earlobe crease" EXACT layperson [] synonym: "Transverse earlobe creases" EXACT [] xref: UMLS:C1851897 is_a: HP:0000363 ! Abnormal earlobe morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-01T03:00:22Z [Term] id: HP:0009921 name: Duane anomaly alt_id: HP:0001109 def: "A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction" [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Globe retraction and deviation on adduction" RELATED [] synonym: "Limited eye motility from Duane anomaly" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Limited eye movement from Duane anomaly" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] xref: MSH:D004370 xref: SNOMEDCT_US:60318001 xref: UMLS:C0013261 xref: UMLS:C1846464 xref: UMLS:C4072873 is_a: HP:0000486 ! Strabismus property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-02T06:32:41Z [Term] id: HP:0009926 name: Epiphora alt_id: HP:0001486 def: "Abnormally increased lacrimation, that is, excessive tearing (watering eye)." [HPO_CONTRIBUTOR:DDD_ncarter, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123, PMID:28003974] comment: Epiphora or tearing is the presence of a watering eye, which is a common complaint for referrals to oculoplastics clinics for evaluation. The etiology of tearing can be divided into two categories: reflex tearing and reduced tear outflow. Reflex tearing is usually secondary to dry eye, inflammation, allergy or other ocular surface disorders, whereas primary hypersecretion of the lacrimal glands is rare. Reduced tear outflow is due to eyelid malposition, tear pump dysfunction caused by eyelid laxity, or obstruction at any portion of the nasaolacrimal drainage system. subset: hposlim_core synonym: "Increased lacrimation" EXACT [] synonym: "Increased tears" EXACT layperson [] synonym: "Tearing" EXACT layperson [] synonym: "Watery eyes" EXACT layperson [] xref: MSH:D007766 xref: SNOMEDCT_US:193982009 xref: SNOMEDCT_US:418035005 xref: UMLS:C0152227 is_a: HP:0000632 ! Lacrimation abnormality property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-02T10:52:28Z [Term] id: HP:0009933 name: Narrow naris def: "Slender, slit-like aperture of the nostril." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Collapsed nostrils" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Naris, narrow" EXACT [] synonym: "Naris, slit-like" EXACT [] synonym: "Narrow nares" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Narrow nostrils" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Slit-like nostrils" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Small nostrils" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thin nares" EXACT [] synonym: "Thin nostrils" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:249336003 xref: SNOMEDCT_US:249339005 xref: UMLS:C0426436 xref: UMLS:C0426439 xref: UMLS:C1849366 xref: UMLS:C4280390 is_a: HP:0000366 ! Abnormality of the nose property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-10T10:35:51Z [Term] id: HP:0009943 name: Complete duplication of thumb phalanx alt_id: HP:0002801 alt_id: HP:0004067 def: "A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism." [https://orcid.org/0000-0002-0736-9199] synonym: "Complete duplication of the phalanges of the thumb" EXACT [] synonym: "Complete duplication of thumb bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Digitalization of thumb" EXACT [] synonym: "Digitalization of thumbs" EXACT [] xref: UMLS:C3554724 is_a: HP:0001172 ! Abnormal thumb morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-15T12:51:35Z [Term] id: HP:0009944 name: Partial duplication of thumb phalanx alt_id: HP:0001244 alt_id: HP:0004070 def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Bifid thumb" EXACT [] synonym: "Notching of thumb phalanges" EXACT [] synonym: "Partial duplication of the phalanges of the thumb" EXACT [] synonym: "Partial duplication of the thumb bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4082168 is_a: HP:0001172 ! Abnormal thumb morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-15T12:51:57Z [Term] id: HP:0010049 name: Short metacarpal alt_id: HP:0001164 alt_id: HP:0005695 alt_id: HP:0005717 alt_id: HP:0005909 alt_id: HP:0006047 alt_id: HP:0006183 alt_id: HP:0006186 def: "Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal." [PMID:19125433] comment: Short metacarpals can involve any of the metacarpal bones, and the affected ray should be specified. The assessment of isolated short metacarpal can be made by viewing the dorsum of the hand when clenched. Note that if metacarpals F2-5 are affected, the correct term is Short palm. subset: hposlim_core synonym: "Brachymetacarpalia" EXACT [] synonym: "Hypoplastic metacarpal" EXACT [] synonym: "Metacarpal hypoplasia" EXACT [] synonym: "Short metacarpal bones" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Short metacarpals" EXACT [] synonym: "Shortened long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Shortened long bones of hand" EXACT [] synonym: "Shortened metacarpals" EXACT [] synonym: "Shortening of metacarpals" EXACT [] xref: UMLS:C1837084 is_a: HP:0003026 ! Short long bone is_a: HP:0040070 ! Abnormal upper limb bone morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T04:40:58Z [Term] id: HP:0010059 name: Broad hallux phalanx def: "An increase in width in one or more phalanges of the big toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Broad phalanges of the hallux" EXACT [] synonym: "Wide bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021343 is_a: HP:0001780 ! Abnormal toe morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:10:46Z [Term] id: HP:0010307 name: Stridor def: "Stridor is a high pitched sound resulting from turbulent air flow in the upper airway." [https://orcid.org/0000-0002-0736-9199, PMID:26229557] comment: Stridor is different from wheezing by the following reasons. It is louder over the neck than chest wall. Secondly; stridor is mainly inspiratory. If occurs in expiration, it is usually biphasic. On the other hand; wheeze is mainly expiratory and occurs during both phases. It indicates extrathoracic upper-airway obstruction (supraglottic lesions like laryngomalacia, vocal cord lesion) when heard on inspiration. It occurs in expiration if associated with intrathoracic tracheobronchial lesions (tracheomalacia, bronchomalacia, and extrinsic compression). It occurs in both phases if lesion is fixed, for example, stenosis. Stridor is caused by the turbulent flow passing through a narrowed segment of the upper respiratory tract. synonym: "Noisy breathing" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D012135 xref: SNOMEDCT_US:248573009 xref: SNOMEDCT_US:70407001 xref: UMLS:C0038450 xref: UMLS:C0237304 is_a: HP:0002086 ! Abnormality of the respiratory system property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-12T02:16:48Z [Term] id: HP:0010313 name: Breast hypertrophy def: "The presence of hypertrophy of the breast." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Breast enlargement" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Breasts enlarged" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Gigantomastia" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Hypertrophy of the breasts" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Large breast" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Macromastia" EXACT [https://orcid.org/0000-0001-5208-3432] xref: MSH:C536821 xref: SNOMEDCT_US:372281005 xref: SNOMEDCT_US:372283008 xref: SNOMEDCT_US:372285001 xref: UMLS:C0020565 xref: UMLS:C0392533 xref: UMLS:C2225524 is_a: HP:0000769 ! Abnormality of the breast property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-12T02:34:30Z [Term] id: HP:0010314 name: Premature thelarche def: "Premature development of the breasts." [https://orcid.org/0000-0002-0736-9199] synonym: "Premature breast development" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:102889008 xref: UMLS:C0425772 is_a: HP:0000818 ! Abnormality of the endocrine system property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-12T02:36:24Z [Term] id: HP:0010438 name: Abnormal ventricular septum morphology alt_id: HP:0001628 def: "A structural abnormality of the interventricular septum." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal interventricular septum morphology" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the ventricular septum" EXACT [] synonym: "Ventricular septum abnormality" EXACT [] xref: Fyler:1815 xref: UMLS:C4021264 is_a: HP:0001671 ! Abnormal cardiac septum morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-27T11:59:56Z [Term] id: HP:0010447 name: Anal fistula def: "An abnormal connection between the epithelialised surface of the anal canal and the perianal skin." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Fistula in ano" EXACT [] xref: MEDDRA:10002156 "Anal fistula" xref: MSH:D012003 xref: SNOMEDCT_US:72779005 xref: UMLS:C0205929 is_a: HP:0002242 ! Abnormal intestine morphology is_a: HP:0004378 ! Abnormality of the anus property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-14T10:16:39Z [Term] id: HP:0010450 name: Esophageal stenosis def: "An abnormal narrowing of the lumen of the esophagus." [https://orcid.org/0000-0002-0736-9199] synonym: "Narrowing of the esophagus" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Narrowing of the oesophagus" EXACT uk_spelling [] xref: MSH:D004940 xref: SNOMEDCT_US:63305008 xref: UMLS:C0014866 is_a: HP:0002031 ! Abnormal esophagus morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-14T10:42:33Z [Term] id: HP:0010473 name: Porphyrinuria def: "Abnormally increased excretion of porphyrins in the urine." [https://orcid.org/0000-0002-0736-9199] comment: Porphyrins are natural pigments containing a fundamental skeleton of four pyrrole nuclei united through the alpha-positions by four methine groups to form a macrocyclic structure. One of the best-known porphyrins is heme. xref: SNOMEDCT_US:44574006 xref: UMLS:C0151861 is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-15T09:57:34Z [Term] id: HP:0010508 name: Metatarsus valgus def: "A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight." [https://orcid.org/0000-0002-0736-9199] xref: MSH:D000070591 xref: UMLS:C4082144 is_a: HP:0001760 ! Abnormal foot morphology is_a: HP:0011842 ! Abnormal skeletal morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-19T09:59:48Z [Term] id: HP:0010511 name: Long toe def: "Toes that appear disproportionately long compared to the foot." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] comment: This finding must be distinguished from digits that are thin but of normal length and that of a short mid and hind foot with normal digit lengths. The affected digits should be specified. If only a subset of the digits of a limb is lengthened, the affected digits should be specified. subset: hposlim_core synonym: "Increased length of toes" EXACT layperson [] synonym: "Long toe" EXACT layperson [] synonym: "Long toes" EXACT layperson [] xref: UMLS:C3150613 is_a: HP:0001780 ! Abnormal toe morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-19T10:40:43Z [Term] id: HP:0010515 name: Aplasia/Hypoplasia of the thymus def: "Absence or underdevelopment of the thymus." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small thymus" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped thymus" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Thymic hypoplasia or aplasia" RELATED [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C3278004 xref: UMLS:C4023796 is_a: HP:0000818 ! Abnormality of the endocrine system is_a: HP:0100763 ! Abnormality of the lymphatic system property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-19T04:21:24Z [Term] id: HP:0010517 name: Ectopic thymus tissue def: "The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal thymus position" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023795 is_a: HP:0000818 ! Abnormality of the endocrine system is_a: HP:0100763 ! Abnormality of the lymphatic system property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-19T04:30:35Z [Term] id: HP:0010539 name: Thin calvarium def: "The presence of an abnormally thin calvarium." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Thin cranial bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thin skull bone" BROAD layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1856231 xref: UMLS:C4280379 is_a: HP:0000929 ! Abnormal skull morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-21T10:21:29Z [Term] id: HP:0010554 name: Cutaneous finger syndactyly alt_id: HP:0001214 alt_id: HP:0005637 alt_id: HP:0006054 alt_id: HP:0006220 def: "A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers." [PMID:19125433] comment: We have set an arguably arbitrary threshold to distinguish the object form the subjective finding. While severe degrees of cutaneous syndactyly are clearly objective, more subtle degrees are subjective. We set this threshold to distinguish these two situations. The digits (or parts of) are joined together by tissue that is not normally present between the digits at that point in the P/D axis. A modifier of "complete" may be used if the cutaneous syndactyly extends to the distal end of the nail bed of the digits. The affected digits should be specified. Note that the unqualified term "syndactyly" is no longer allowed as it is unclear whether this refers to bony or cutaneous syndactyly. subset: hposlim_core synonym: "Cutaneous syndactyly of fingers" EXACT [] synonym: "Cutaneous syndactyly of hands" EXACT [] synonym: "Webbed fingers" EXACT layperson [PMID:16200145] synonym: "Webbed skin of fingers" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021254 is_a: HP:0006101 ! Finger syndactyly property_value: dc-creator "sandra1" xsd:string creation_date: 2009-10-07T10:59:57Z [Term] id: HP:0010569 name: Elevated circulating 7-dehydrocholesterol concentration def: "Concentration of 7-dehydrocholesterol in the blood circulation above the upper limit of normal." [https://orcid.org/0000-0002-0736-9199] comment: Elevated 7-dehydrocholesterol levels occur as the result of a deficiency of the enzyme delta-7-sterol reductase, the penultimate enzyme of mammalian sterol biosynthesis that converts 7-dehydrocholesterol (7-DHC) to cholesterol. This enzyme removes the C(7-8) double bond introduced by the sterol delta8-delta7 isomerases. In addition, its role in drug-induced malformations is known: inhibitors of the last step of cholesterol biosynthesis such as AY9944 and BM15766 severely impair brain development. Homozygous mutations in the gene encoding for this enzyme are the molecular genetic cause of Smith-Lemli-Opitz Syndrome. synonym: "Elevated levels of cholesta-5,7-dien-3beta-ol" EXACT [] xref: UMLS:C1849185 is_a: HP:0003119 ! Abnormal circulating lipid concentration is_a: MONDO:0021187 ! hyperlipidemia property_value: dc-creator "sandra1" xsd:string creation_date: 2009-10-19T08:49:58Z [Term] id: HP:0010577 name: Absent epiphyses synonym: "Absent end part of bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021862 is_a: HP:0011842 ! Abnormal skeletal morphology property_value: dc-creator "sandra1" xsd:string creation_date: 2009-10-22T02:53:19Z [Term] id: HP:0010609 name: Skin tags def: "Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumors that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region." [https://orcid.org/0009-0006-4530-3154] synonym: "Acrochorda" EXACT [] xref: SNOMEDCT_US:201091002 xref: SNOMEDCT_US:31069005 xref: SNOMEDCT_US:80801001 xref: UMLS:C0037293 is_a: HP:0011121 ! Abnormal skin morphology property_value: dc-creator "sandra1" xsd:string property_value: gwas:trait "true" xsd:boolean creation_date: 2009-10-27T11:41:03Z [Term] id: HP:0010650 name: Hypoplasia of the premaxilla def: "An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures." [https://orcid.org/0000-0001-5889-4463, https://orcid.org/0000-0002-0736-9199, PMID:19125436] subset: hposlim_core synonym: "Decreased size of premaxilla" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of the primary palate bone" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of the intermaxillary bone" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of the primary palate bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Premaxillary bone deficiency" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Premaxillary bone retrusion" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Premaxillary retrusion" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Premaxillary underdevelopment" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Primary palate bone deficiency" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Primary palate bone retrusion" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Small premaxilla" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Small primary palate bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Underdevelopment of premaxilla" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Underdevelopment of the premaxilla" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Underdevelopment of the primary palate bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4020770 xref: UMLS:C4072878 is_a: HP:0030791 ! Abnormal jaw morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-02-25T10:11:43Z [Term] id: HP:0010668 name: Abnormal zygomatic bone morphology alt_id: HP:0012369 def: "An abnormality of the zygomatic bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal malar bone morphology" EXACT [] synonym: "Abnormality of the cheekbone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the zygomatic bone" EXACT [] synonym: "Anomaly of the zygomatic bone" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the cheekbone" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the zygomatic bone" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the zygomatic bone" NARROW [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023749 is_a: HP:0000271 ! Abnormality of the face is_a: HP:0011821 ! Abnormal facial skeleton morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-02-26T08:13:11Z [Term] id: HP:0010689 name: Mirror image polydactyly def: "A hand or foot with more than five digits that has a recognizable A/P axis of symmetry. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux. The most lateral digits on each side of the hand/foot typically resemble fifth fingers/toes." [https://orcid.org/0009-0006-4530-3154, PMID:19125433] comment: Transplantation of the ZPA (zone of polarised activity) to the anterior margin of a limb bud in the chick results in mirror image duplication of limb elements (Tabin, 1991). Similarly, mirror image duplication in the forelimb of the mouse has been observed with ectopic expression of Hox b-8 (Charit6 et al, 1994). Mirror hand anomaly in humans has been shown to be due to either aberrant positioning of the ZPA or altered inductive interactions of the Shh gene resulting in impairment of the mechanism responsible for the organization and differentiation of the limb bud, rather than a primary duplication event. In other words, the primary event results in failure of the radial ray to develop. The ulnar area will then induce the differentiation of two groups of ulnar rays. Timing of this insult could play a critical role in severity of this phenotypic feature. Syndromal mirror hand is probably due to agene mutation of the Shh gene (Hersh et al, 1995). Finally, the multiple hand deformity may be explained by true duplication of the ZPA. synonym: "Mirror image duplication of digits" EXACT [] xref: MSH:C535689 xref: SNOMEDCT_US:715440003 xref: UMLS:C1851100 is_a: HP:0011297 ! Abnormal digit morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-03-05T05:03:16Z [Term] id: HP:0010705 name: 4-5 finger syndactyly def: "Syndactyly with fusion of fingers four and five." [https://orcid.org/0009-0006-4530-3154] synonym: "Webbed 4th-5th finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023731 is_a: HP:0006101 ! Finger syndactyly property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-03-26T05:12:44Z [Term] id: HP:0010720 name: Abnormal hair pattern def: "An abnormality of the distribution of hair growth." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal distribution of hair" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormal hair pattern" EXACT layperson [] xref: UMLS:C4023721 is_a: HP:0001574 ! Abnormality of the integument property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-20T09:53:15Z [Term] id: HP:0010743 name: Short metatarsal alt_id: HP:0001779 alt_id: HP:0001865 alt_id: HP:0003092 alt_id: HP:0004706 alt_id: HP:0005754 def: "Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] comment: This is a subjective assessment and one generally compares the position of the MTP joint to that of the contralateral digit or the putatively shortened ray in proportion to the other rays. The affected digits should be specified. subset: hposlim_core synonym: "Hypoplasia of the metatarsal bones" EXACT [] synonym: "Hypoplastic metatarsals" EXACT [] synonym: "Short long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Short metatarsal bone" EXACT [] synonym: "Short metatarsal bones" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Short metatarsals" EXACT [] synonym: "Shortened metatarsals" EXACT [] xref: UMLS:C1849020 is_a: HP:0001760 ! Abnormal foot morphology is_a: HP:0003026 ! Short long bone property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-22T04:30:18Z [Term] id: HP:0010747 name: Medial flaring of the eyebrow def: "An abnormal distribution of eyebrow hair growth in the medial direction." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Medially flared eyebrows" EXACT [] xref: UMLS:C1844562 is_a: HP:0000271 ! Abnormality of the face is_a: HP:0001574 ! Abnormality of the integument property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-23T09:29:58Z [Term] id: HP:0010750 name: Dermatochalasis def: "Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge." [https://orcid.org/0000-0002-0736-9199] synonym: "Baggy eyes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Droopy eyelid skin" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Extra eyelid skin" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Eyelid dermatochalasia" EXACT [] synonym: "Hooding of eyelids" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Redundant eyelid skin" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:246815009 xref: UMLS:C0423124 xref: UMLS:C2674149 is_a: HP:0000271 ! Abnormality of the face property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-23T10:07:56Z [Term] id: HP:0010752 name: Cleft mandible def: "Midline deficiency of the mandible and some or all overlying tissues." [PMID:19125436] subset: hposlim_core synonym: "Cleft lower jaw" EXACT layperson [] synonym: "Mandibular cleft" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:92822004 xref: UMLS:C0685786 is_a: HP:0010753 ! Midline defect of mandible property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-23T10:32:09Z [Term] id: HP:0010753 name: Midline defect of mandible synonym: "Midline cleft of mandible" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023714 is_a: HP:0000277 ! Abnormal mandible morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-23T10:32:46Z [Term] id: HP:0010769 name: Pilonidal sinus alt_id: HP:0010768 def: "A sinus in the coccygeal region (the region of the intergluteal cleft). A pilonidal sinus often contains hair and skin debris." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Pilonidal cyst" EXACT [] xref: MSH:D010864 xref: SNOMEDCT_US:47639008 xref: UMLS:C0031925 is_a: HP:0000925 ! Abnormality of the vertebral column property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-29T09:55:15Z [Term] id: HP:0010771 name: Pilonidal abscess def: "A hair-containing cyst or sinus usually in the coccygeal region." [https://orcid.org/0000-0002-0736-9199] synonym: "Sacrococcygeal fistula" EXACT [] xref: SNOMEDCT_US:85224001 xref: UMLS:C3537055 is_a: HP:0000925 ! Abnormality of the vertebral column is_a: HP:0031292 ! Cutaneous abscess property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-29T09:55:15Z [Term] id: HP:0010783 name: Erythema def: "Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-6548-5200] subset: hposlim_core synonym: "Redness of skin or mucous membrane" EXACT layperson [] xref: MSH:D004890 xref: MSH:D005483 xref: SNOMEDCT_US:20255002 xref: SNOMEDCT_US:238810007 xref: SNOMEDCT_US:247441003 xref: SNOMEDCT_US:271811009 xref: SNOMEDCT_US:444827008 xref: SNOMEDCT_US:70819003 xref: SNOMEDCT_US:86735004 xref: UMLS:C0016382 xref: UMLS:C0041834 is_a: HP:0011276 ! Vascular skin abnormality property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-04-30T11:40:43Z [Term] id: HP:0010804 name: Tented upper lip vermilion alt_id: HP:0100895 def: "Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base." [PMID:19125428] comment: This finding is distinguished from an Exaggerated Cupid's bow by the alteration of the shape of the oral aperture. subset: hposlim_core synonym: "Inverted V-shaped upper lip" EXACT [] synonym: "Tented mouth" RELATED layperson [] synonym: "Tented upper lip" RELATED layperson [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1839767 xref: UMLS:C1850072 xref: UMLS:C1853383 is_a: HP:0000153 ! Abnormality of the mouth property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-06-26T02:32:35Z [Term] id: HP:0010805 name: Upturned corners of mouth def: "Oral commissures positioned superior to the midline labial fissure." [PMID:19125428] comment: This finding should be assessed with the mouth closed, the lips in relaxed contact, and the face relaxed. The finding may be difficult to assess if the upper lip is enlarged. subset: hposlim_core synonym: "Upturned corners of mouth" EXACT layperson [] synonym: "Upturned mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Upturned oral commisures" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C3553471 is_a: HP:0011338 ! Abnormality of mouth shape property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-06-26T03:17:08Z [Term] id: HP:0010813 name: Abnormal number of hair whorls def: "More than two clockwise hair whorls." [PMID:19125436] comment: Most individuals have one clockwise hair whorl at a single point on the scalp lateral to the midline but close to the vertex of the skull. Five percent of the population has two whorls. A double hair whorl is sometimes referred to as a double crown. In 10%, whorl direction is counter-clockwise. subset: hposlim_core synonym: "Abnormal number of hair swirls" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormal number of hair whorls" EXACT layperson [] synonym: "Double crown (hair whorls)" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Extra hair swirls" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Extra hair whorl" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Supernumary hair swirls" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Supernumary hair whorl" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023695 is_a: HP:0010720 ! Abnormal hair pattern property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-05T11:12:26Z [Term] id: HP:0010841 name: Multifocal epileptiform discharges def: "An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci)." [https://orcid.org/0000-0002-0736-9199] synonym: "Multifocal EEG abnormality" EXACT [] xref: UMLS:C4021219 is_a: HP:0002353 ! EEG abnormality property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-10T08:01:28Z [Term] id: HP:0010845 name: EEG with generalized slow activity def: "Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [https://orcid.org/0000-0002-0736-9199] comment: Generalized slow activity in the EEG typically signifies serious dysfunction of the entire brain. synonym: "EEG with generalised slow activity" EXACT uk_spelling [] synonym: "EEG: generalised slow activity" EXACT [] synonym: "EEG: generalized slow activity" EXACT [] xref: UMLS:C4021217 is_a: HP:0011203 ! EEG with abnormally slow frequencies property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-10T08:15:05Z [Term] id: HP:0010857 name: EEG with periodic abnormalities def: "Periodically recurring abnormalities in the EEG." [https://orcid.org/0000-0002-0736-9199] synonym: "EEG: periodic abnormalities" EXACT [] xref: UMLS:C4021211 is_a: HP:0011198 ! EEG with generalized epileptiform discharges property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-11T08:39:39Z [Term] id: HP:0010862 name: Delayed fine motor development def: "A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023681 is_a: HP:0001270 ! Motor delay property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-08-03T05:44:08Z [Term] id: HP:0010863 name: Receptive language delay def: "A delay in the acquisition of the ability to understand the speech of others." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:229736005 xref: UMLS:C0454642 is_a: HP:0000750 ! Delayed speech and language development property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-08-03T06:02:52Z [Term] id: HP:0010864 name: Intellectual disability, severe alt_id: HP:0007196 def: "Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34." [https://orcid.org/0000-0002-0736-9199] comment: Persons with severe mental retardation can be taught basic life skills and simple tasks with supervision. synonym: "Early and severe mental retardation" EXACT layperson [] synonym: "Intellectual disability, severe" EXACT layperson [] synonym: "Mental retardation, severe" EXACT layperson [] synonym: "Severe mental retardation" EXACT layperson [] xref: SNOMEDCT_US:40700009 xref: UMLS:C0036857 is_a: HP:0001249 ! Intellectual disability property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-08-03T06:29:35Z [Term] id: HP:0010865 name: Oppositional defiant disorder def: "An enduring pattern of uncooperative, defiant, and hostile behavior towards authority figures that does not involve major antisocial violations, is not accounted for by the child's developmental stage, and results in significant functional impairment. A certain level of oppositional behavior is common in children and adolescents." [] comment: Oppositional defiant disorder is essentially a persistent pattern of tantrums, arguments, and angry or disruptive behavior that exceeds what can be considered normal. synonym: "ODD" EXACT [] xref: DOID:0050856 xref: HP:0010865 xref: MSH:D019958 xref: SNOMEDCT_US:18941000 xref: UMLS:C0029121 is_a: HP:0000708 ! Atypical behavior property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-1111-7357 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7954-5235 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2897-0458 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4298-5074 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4618-6544 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-08-03T07:09:09Z [Term] id: HP:0010881 name: Abnormality of the umbilical cord def: "An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta." [https://orcid.org/0000-0002-0736-9199] synonym: "Umbilical cord issue" EXACT layperson [] xref: SNOMEDCT_US:90009001 xref: UMLS:C0266785 is_a: HP:0001197 ! Abnormality of prenatal development or birth property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-09-13T08:24:04Z [Term] id: HP:0010886 name: Osteochondritis dissecans def: "A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage." [https://orcid.org/0009-0006-4530-3154] comment: Joints that are most often affected by Osteochondrosis dissecans are elbow and hip, but also wrist and ankel joints. synonym: "Osteochondrosis dissecans" EXACT [] xref: MSH:D010008 xref: SNOMEDCT_US:82562007 xref: UMLS:C0029421 is_a: HP:0040188 ! Osteochondrosis property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-09-24T10:15:07Z [Term] id: HP:0010931 name: Abnormal blood sodium concentration def: "An abnormal concentration of sodium." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal blood Na+ levels" EXACT abbreviation [] synonym: "Abnormal circulating Na concentration" EXACT abbreviation [] synonym: "Abnormality of sodium homeostasis" EXACT [] xref: UMLS:C4023644 is_a: HP:0003111 ! Abnormal blood ion concentration property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-06T10:40:20Z [Term] id: HP:0010944 name: Abnormal renal pelvis morphology def: "An abnormality of the renal pelvis." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the renal pelvis" EXACT [] xref: ICD10:Q62 xref: UMLS:C4023633 is_a: HP:0012210 ! Abnormal renal morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-16T03:33:55Z [Term] id: HP:0010956 name: Fetal megacystis def: "Fetal megacystis is an abnormally enlarged bladder identified at any gestational age." [https://orcid.org/0000-0002-0736-9199, PMID:20837325] comment: Abnormal enlargement of the fetal bladder can be detected by prenatal ultrasound by fourteen weeks of gestation. In some cases, dilatation of the fetal bladder is transient and resolves without sequelae, and in other cases it is the earliest manifestation of bladder outlet obstruction. synonym: "Foetal megacystis" EXACT uk_spelling [] xref: MSH:C536139 xref: UMLS:C2931117 is_a: HP:0000014 ! Abnormality of the bladder property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-18T10:43:58Z [Term] id: HP:0010970 name: Blood group antigen abnormality def: "An abnormality of an erythrocyte cell surface molecule." [https://orcid.org/0000-0002-0736-9199] comment: During development, the human immune system recognizes antigens of the body as 'self' and does not generate antibodies against them. xref: UMLS:C4023620 is_a: HP:0001877 ! Abnormal erythrocyte morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-06T12:37:33Z [Term] id: HP:0010972 name: Anemia of inadequate production alt_id: HP:0005501 alt_id: HP:0005504 alt_id: HP:0005553 def: "A kind of anemia characterized by inadequate production of erythrocytes." [https://orcid.org/0000-0002-0736-9199] synonym: "Anaemia of inadequate production" EXACT uk_spelling [] synonym: "Anemia, dyserythropoietic" EXACT [] synonym: "Defective erythropoiesis" EXACT [] synonym: "Dyserythropoietic anaemia" EXACT uk_spelling [] synonym: "Dyserythropoietic anemia" EXACT [] synonym: "Ineffective erythropoiesis" EXACT [] xref: SNOMEDCT_US:70730006 xref: UMLS:C0392708 xref: UMLS:C0678199 is_a: EFO:0004272 ! anemia (phenotype) property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-06T02:24:54Z [Term] id: HP:0010992 name: Stress urinary incontinence def: "Involuntary urine leakage synchronous with exertion, or actions such as sneezing, or coughing." [https://orcid.org/0000-0002-0736-9199, PMID:12559262] xref: MSH:D014550 xref: SNOMEDCT_US:22220005 xref: UMLS:C0042025 is_a: HP:0000020 ! Urinary incontinence property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-09T12:13:46Z [Term] id: HP:0011007 name: obsolete_age of onset property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.15.0" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Obsoleted/removed from domain ontology (HPO). Use http://purl.obolibrary.org/obo/HP_0003674" xsd:string property_value: organizational:class "true" xsd:boolean is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HP_0003674 [Term] id: HP:0011009 name: Acute def: "Sudden appearance of disease manifestations over a short period of time." [https://orcid.org/0000-0002-0736-9199] comment: The word acute is applied to different time scales depending on the disease or manifestation and does not have an exact definition in minutes, hours, or days. synonym: "Acute onset" EXACT [] xref: NCIt:C14140 xref: SNOMEDCT_US:272118002 xref: UMLS:C0205178 is_a: EFO:0010569 ! clinical modifier property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-20T10:23:18Z [Term] id: HP:0011010 name: Chronic def: "Slow, creeping onset, slow progress and long continuance of disease manifestations." [https://orcid.org/0000-0002-0736-9199] comment: According to the U.S. National Center for Health Statistics, a chronic condition is one lasting 3 months or more. synonym: "Chronic" EXACT layperson [] xref: NCIt:C14141 xref: SNOMEDCT:90734009 xref: SNOMEDCT_US:90734009 xref: UMLS:C0205191 is_a: EFO:0010569 ! clinical modifier property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-20T10:25:55Z [Term] id: HP:0011013 name: Abnormal circulating carbohydrate concentration def: "A deviation from the normal concentration of a carbohydrate in the blood circulation." [https://orcid.org/0000-0002-0736-9199] comment: An abnormality of the metabolism (include abnormality of the concentration) of a carbohydrate, including monosaccharides, oligosaccharides and polysaccharides, and substances derived from them. xref: UMLS:C4023599 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-21T09:47:27Z [Term] id: HP:0011014 name: Abnormal glucose homeostasis def: "Abnormality of glucose homeostasis." [https://orcid.org/0000-0002-0736-9199] comment: An abnormality of any process involved in the maintenance of an internal steady state of glucose within an organism or cell. xref: UMLS:C4023598 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-21T10:37:21Z [Term] id: HP:0011015 name: Abnormal blood glucose concentration def: "An abnormality of the concentration of glucose in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of blood glucose concentration" EXACT [] xref: UMLS:C4023597 is_a: HP:0011014 ! Abnormal glucose homeostasis property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-21T10:41:13Z [Term] id: HP:0011017 name: Abnormal cellular physiology alt_id: HP:0025462 def: "An abnormality in a cellular process." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of cell physiology" EXACT [] xref: UMLS:C4023595 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis is_a: HP:0025354 ! Abnormal cellular phenotype property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-22T07:05:50Z [Term] id: HP:0011024 name: Abnormality of the gastrointestinal tract def: "An abnormality of the gastrointestinal tract." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the gastrointestinal tract" EXACT layperson [] synonym: "Abnormality of the GI tract" EXACT abbreviation [] synonym: "Digestive system disease" RELATED layperson [] synonym: "Gastrointestinal disease" RELATED layperson [] xref: MSH:D004066 xref: MSH:D005767 xref: SNOMEDCT_US:119292006 xref: SNOMEDCT_US:25374005 xref: SNOMEDCT_US:53619000 xref: UMLS:C0012242 xref: UMLS:C0017178 xref: UMLS:C4023588 is_a: HP:0025031 ! Abnormality of the digestive system property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-01T07:52:06Z [Term] id: HP:0011025 name: Abnormal cardiovascular system physiology def: "Abnormal functionality of the cardiovascular system." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of cardiovascular system physiology" EXACT [] xref: UMLS:C4023587 is_a: HP:0001626 ! Abnormality of the cardiovascular system property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-03T10:23:19Z [Term] id: HP:0011028 name: Abnormality of blood circulation def: "An abnormality of blood circulation." [https://orcid.org/0000-0002-0736-9199] synonym: "Blood circulation disorder" RELATED [] xref: UMLS:C4020760 xref: UMLS:C4023585 is_a: HP:0011025 ! Abnormal cardiovascular system physiology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-03T10:25:21Z [Term] id: HP:0011031 name: Abnormality of iron homeostasis def: "An abnormality of the homeostasis (concentration) of iron cation." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023583 is_a: HP:0003111 ! Abnormal blood ion concentration property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-04T08:01:07Z [Term] id: HP:0011035 name: Abnormal renal cortex morphology def: "An abnormality of the cortex of the kidney." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of renal cortex morphology" EXACT [] xref: UMLS:C4023580 is_a: HP:0012210 ! Abnormal renal morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-06T11:31:39Z [Term] id: HP:0011037 name: Decreased urine output def: "A decreased rate of urine production." [https://orcid.org/0000-0002-0736-9199] comment: A reduction in the overall amount of urine output. xref: UMLS:C3887784 is_a: HP:0012590 ! Abnormal urine output property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-06T12:33:12Z [Term] id: HP:0011079 name: Impacted tooth def: "A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth)." [https://orcid.org/0000-0002-9338-3017] subset: hposlim_core synonym: "Buried tooth" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Impacted tooth" EXACT layperson [] synonym: "Retained tooth" EXACT [] xref: ICD10:K01 xref: MSH:D014095 xref: SNOMEDCT_US:129263008 xref: SNOMEDCT_US:235104008 xref: UMLS:C0040456 xref: UMLS:C4280338 is_a: HP:0000164 ! Abnormality of the dentition property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-11T10:18:55Z [Term] id: HP:0011090 name: Fused teeth def: "The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch." [PMID:18167487] subset: hposlim_core synonym: "Fused teeth" EXACT layperson [] synonym: "Fusion of teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Joined teeth" EXACT layperson [] xref: MSH:D005671 xref: SNOMEDCT_US:1744008 xref: UMLS:C0016873 is_a: HP:0000164 ! Abnormality of the dentition property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-11T02:17:04Z [Term] id: HP:0011094 name: Increased overbite def: "Maxillary teeth cover the mandibular teeth when biting to an increased degree. The feature is defined as a vertical overlap of the maxillary incisors over the mandibular incisors that exceeds 2 mm." [https://orcid.org/0000-0002-9338-3017, PMID:31468724] synonym: "Deep bite" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deep overbite" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased overlap of upper and lower incisors" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Overbite" EXACT layperson [] synonym: "Scissors bite" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Supraocclusion" EXACT [] xref: MSH:D057887 xref: SNOMEDCT_US:10816007 xref: SNOMEDCT_US:251293001 xref: SNOMEDCT_US:60476005 xref: SNOMEDCT_US:63783001 xref: UMLS:C0266063 xref: UMLS:C0266067 xref: UMLS:C1305740 is_a: HP:0000164 ! Abnormality of the dentition property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-11T05:13:34Z [Term] id: HP:0011096 name: Peripheral demyelination alt_id: HP:0003381 alt_id: HP:0006939 alt_id: HP:0007282 def: "A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system." [https://orcid.org/0000-0002-0736-9199] comment: This feature is generally diagnosed on the basis of a sural nerve biopsy. Demyelination is associated with slowed nerve conduction, increased refractoriness, and conduction block. synonym: "Demyelination" EXACT [] xref: UMLS:C0878575 is_a: HP:0012447 ! Abnormal myelination property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-28T09:01:02Z [Term] id: HP:0011097 name: Epileptic spasm def: "A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages" [HPO_CONTRIBUTOR:jalbers, PMID:28276060] comment: The maximum age of onset is between 3 and 12 months, the peak being at 6 months. However, spasms may start from birth, or appear long after the age of 12 months, including into adulthood. Infantile spasms represent a specific type of seizure seen in an epilepsy syndrome of infancy and childhood known as West Syndrome. West Syndrome is characterized by infantile spasms, developmental regression, and hypsarrhythmia (as demonstrated by electroencephalography). synonym: "Epileptic spasms" EXACT plural_form [] synonym: "Salaam convulsion" EXACT [] synonym: "Salaam convulsions" EXACT plural_form [] synonym: "Salaam seizure" EXACT [] synonym: "Salaam seizures" EXACT plural_form [] synonym: "West syndrome" RELATED [] xref: MSH:D013036 xref: SNOMEDCT_US:28055006 xref: UMLS:C0037769 xref: UMLS:C1527366 is_a: HP:0001250 ! Seizure property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-05-04T01:56:31Z [Term] id: HP:0011098 name: Speech apraxia def: "A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur." [https://orcid.org/0000-0002-0736-9199] comment: Speech apraxia may co-occur with oral apraxia and limb apraxia. synonym: "Apraxia of speech" EXACT [] synonym: "Speech dyspraxia" RELATED [] synonym: "Verbal dyspraxia" EXACT [] xref: MSH:D001072 xref: SNOMEDCT_US:361276003 xref: SNOMEDCT_US:361277007 xref: SNOMEDCT_US:74227009 xref: UMLS:C0264611 xref: UMLS:C0349391 is_a: HP:0011442 ! Abnormal central motor function property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-05-15T08:57:11Z [Term] id: HP:0011105 name: Hypervolemia def: "An increase in the amount of intravascular fluid, particularly in the volume of the circulating blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Fluid overload in blood" EXACT layperson [https://en.wikipedia.org/wiki/hypervolemia, https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:21639008 xref: UMLS:C0546817 is_a: HP:0011028 ! Abnormality of blood circulation property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-07T11:17:32Z [Term] id: HP:0011106 name: Hypovolemia def: "An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Depleted blood volume" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: ICD10:E86 xref: MSH:D020896 xref: SNOMEDCT_US:28560003 xref: UMLS:C0546884 is_a: HP:0011028 ! Abnormality of blood circulation property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-07T11:18:54Z [Term] id: HP:0011107 name: Recurrent aphthous stomatitis def: "Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border." [https://orcid.org/0000-0002-0736-9199] comment: Recurrent aphthous stomatitis can be classified into three forms, with minor ulcers (over 80% of RAS cases) being less than 1 cm in diameter and self-limiting; major ulcers being over 1 cm in diameter with potential scar formation; and herpetiform ulcers manifesting as recurrent episodes with multiple small ulcers throughout the oral mucosa. synonym: "Aphthous stomatitis" RELATED [] synonym: "Buccal aphthous ulcers" RELATED [] synonym: "Recurrent aphthous ulcers" RELATED [] synonym: "Recurrent canker sores" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Recurrent oral aphthae" EXACT [] xref: MSH:D013281 xref: SNOMEDCT_US:110426005 xref: SNOMEDCT_US:398870000 xref: SNOMEDCT_US:426965005 xref: SNOMEDCT_US:427617000 xref: UMLS:C0038363 xref: UMLS:C2937365 is_a: HP:0000153 ! Abnormality of the mouth is_a: HP:0012649 ! Increased inflammatory response property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-08T07:11:09Z [Term] id: HP:0011110 name: Recurrent tonsillitis def: "Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis." [https://orcid.org/0000-0002-0736-9199, PMID:15897415] synonym: "Recurrent inflammation of tonsils" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: ICD10:J03 xref: MSH:D014069 xref: SNOMEDCT_US:90176007 xref: UMLS:C0040425 is_a: HP:0002719 ! Recurrent infections is_a: HP:0100763 ! Abnormality of the lymphatic system property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-10T07:46:38Z [Term] id: HP:0011120 name: Concave nasal ridge def: "Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip." [https://orcid.org/0000-0002-0736-9199, PMID:19152422] comment: A saddle-nose deformity can be congenital or acquired (e.g., traumatic) and is associated with structural compromise of the nasoseptal cartilage leading to decreased dorsal nasal structural support. A depression of the dorsum of the nose with loss of nasal tip support and definition, shortened (vertical) nasal length, overrotation of the nasal tip, and retrusion of the nasal spine and caudal septum. subset: hposlim_core synonym: "Boxer's nasal deformity" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Boxer's nose deformity" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Concave dorsum of nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Concave nasal dorsum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Saddle nose" EXACT layperson [] synonym: "Saddle nose deformity" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Saddle shaped nasal dorsum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Ski jump nose" EXACT layperson [] xref: SNOMEDCT_US:710234009 xref: UMLS:C0264169 is_a: HP:0000366 ! Abnormality of the nose property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-12T09:39:55Z [Term] id: HP:0011121 name: Abnormal skin morphology def: "Any morphological abnormality of the skin." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal skin morphology" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormal skin structure" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of skin morphology" EXACT [] xref: Fyler:4133 xref: UMLS:C4023528 is_a: HP:0000951 ! Abnormality of the skin property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-12T10:03:23Z [Term] id: HP:0011123 name: Inflammatory abnormality of the skin alt_id: HP:0002727 alt_id: HP:0007423 def: "The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal tendency to infections of the skin" EXACT [] synonym: "Dermatitis" RELATED [] synonym: "Inflammatory abnormality of the skin" EXACT layperson [] synonym: "Inflammatory skin disease" RELATED [] synonym: "Skin inflammation" EXACT layperson [] xref: MP:0004947 xref: MSH:D003872 xref: SNOMEDCT_US:703938007 xref: UMLS:C0011603 xref: UMLS:C3875321 is_a: HP:0000951 ! Abnormality of the skin is_a: HP:0012649 ! Increased inflammatory response property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-12T10:06:04Z [Term] id: HP:0011141 name: Age-related cataract def: "A type of cataract (opacification of the lens) that forms during the course of aging." [https://orcid.org/0000-0002-0736-9199, PMID:15708105] comment: The lens is formed from ectodermal tissue and contains epithelial cells that give rise to lens fibres throughout life, so with increasing age the lens becomes more compact and thicker. synonym: "Clouding of the lens of the eye with age" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:39450006 xref: UMLS:C0036646 is_a: HP:0000517 ! Abnormal lens morphology property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-27T09:41:38Z [Term] id: HP:0011142 name: Age-related nuclear cataract def: "A type of age-related cataract that primarily affects the nucleus of the lens." [https://orcid.org/0000-0002-0736-9199, PMID:15708105] comment: As the lens ages, new layers of fibres are added and the lens nucleus is compressed and becomes harder (nuclear sclerosis cataract), with associated yellowing of the lens. Nuclear sclerosis typically progresses slowly. xref: MSH:C563333 xref: UMLS:C1832423 is_a: HP:0011141 ! Age-related cataract property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-27T09:49:20Z [Term] id: HP:0011147 name: Typical absence seizure def: "A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event." [HPO_CONTRIBUTOR:jalbers, PMID:28276060, PMID:28276062, PMID:28276064, PMID:6790275] comment: In 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (>80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination; see Dialeptic seizure. Typical absences have 2 essential components: (1) clinically the impairment of consciousness (absence), and (2) EEG generalized 3 Hz to 4 Hz (less than 2.5 Hz) spike and slow wave discharges. synonym: "Typical absence" EXACT [] synonym: "Typical absence seizures" EXACT plural_form [] xref: MSH:D004832 xref: SNOMEDCT_US:230413002 xref: SNOMEDCT_US:432241000124101 xref: SNOMEDCT_US:50866000 xref: SNOMEDCT_US:79631006 xref: UMLS:C0014553 is_a: HP:0002121 ! Generalized non-motor (absence) seizure property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-10-18T01:52:22Z [Term] id: HP:0011198 name: EEG with generalized epileptiform discharges alt_id: HP:0010842 def: "EEG discharges recorded on the entire scalp typically seen in persons with epilepsy." [HPO_CONTRIBUTOR:jalbers] comment: Spikes (<70 ms) and sharp waves (70-200 ms) are sharp transient waves that have a strong association with epilepsy. No difference is noted in terms of clinical significance of spikes and sharp waves. Significant spikes usually are followed by a slow wave. synonym: "EEG with generalised epileptiform discharges" EXACT uk_spelling [] xref: UMLS:C4023476 is_a: HP:0002353 ! EEG abnormality property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T11:15:46Z [Term] id: HP:0011203 name: EEG with abnormally slow frequencies def: "EEG with abnormally slow frequencies." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023471 is_a: HP:0002353 ! EEG abnormality property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T11:26:47Z [Term] id: HP:0011220 name: Prominent forehead alt_id: HP:0200061 def: "Forward prominence of the entire forehead, due to protrusion of the frontal bone." [PMID:19125436] comment: Not to be confused with frontal bossing. subset: hposlim_core synonym: "Bulging forehead" RELATED layperson [] synonym: "Prominence of frontal region" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent forehead" EXACT layperson [] synonym: "Pronounced forehead" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Protruding forehead" EXACT layperson [] xref: UMLS:C1837260 xref: UMLS:C1867446 is_a: HP:0000271 ! Abnormality of the face property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-07T09:49:36Z [Term] id: HP:0011227 name: Elevated circulating C-reactive protein concentration def: "An abnormal elevation of the C-reactive protein level in the blood circulation." [https://orcid.org/0000-0002-0736-9199, PMID:28722873] comment: C-reactive protein (CRP) is produced by the liver, and increases in concentration in response to inflammation. synonym: "Elevated C-reactive protein level" EXACT [] synonym: "Elevated CRP" RELATED [] xref: UMLS:C0742906 xref: UMLS:C4023452 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-13T11:04:10Z [Term] id: HP:0011276 name: Vascular skin abnormality synonym: "Skin vascular malformation" EXACT [] synonym: "Vascular abnormalities restricted to skin" RELATED [https://orcid.org/0000-0002-5316-1399] xref: MSH:D017445 xref: SNOMEDCT_US:11263005 xref: UMLS:C0162819 xref: UMLS:C1842892 is_a: HP:0002597 ! Abnormality of the vasculature is_a: HP:0011121 ! Abnormal skin morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-29T08:52:53Z [Term] id: HP:0011277 name: Abnormality of the urinary system physiology xref: UMLS:C4023437 is_a: HP:0000079 ! Abnormality of the urinary system relationship: RO:0002314 UBERON:0001008 ! inheres in part of renal system property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-30T02:51:16Z [Term] id: HP:0011297 name: Abnormal digit morphology def: "A morphological abnormality of a digit, i.e., of a finger or toe." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of digit" EXACT [] synonym: "Abnormality of fingers or toes" EXACT layperson [] synonym: "Digital anomalies" EXACT [] xref: UMLS:C3550704 is_a: HP:0011842 ! Abnormal skeletal morphology is_a: HP:0040064 ! Abnormality of limbs property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-11T07:16:22Z [Term] id: HP:0011311 name: Sydney crease def: "Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm." [PMID:19125433] comment: The proximal transverse (five finger) crease starts on the radial side of the hand near the base of the index finger and extends toward the ulnar side of the palm, but does not reach the ulnar side. In this finding, the crease extends completely to the ulnar margin of the palm. xref: UMLS:C4023420 is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0011121 ! Abnormal skin morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-02-12T12:58:13Z [Term] id: HP:0011338 name: Abnormality of mouth shape def: "An abnormality of the outline, configuration, or contour of the mouth." [HPO_CONTRIBUTOR:DDD_jhurst] synonym: "Abnormality of mouth shape" EXACT layperson [] synonym: "Anomaly of mouth shape" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Unusual mouth shape" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: Fyler:4874 xref: UMLS:C4023407 is_a: HP:0000153 ! Abnormality of the mouth property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-26T01:05:23Z [Term] id: HP:0011341 name: Long upper lip def: "Increased width of the upper lip." [HPO_CONTRIBUTOR:DDD_jhurst] synonym: "Elongation of upper lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased height of upper lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased vertical length of upper lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Long upper lip" EXACT layperson [] xref: UMLS:C3151495 is_a: HP:0000153 ! Abnormality of the mouth property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-26T01:58:08Z [Term] id: HP:0011342 name: Mild global developmental delay def: "A mild delay in the achievement of motor or mental milestones in the domains of development of a child." [https://orcid.org/0000-0002-6410-0882] synonym: "Global developmental delay, mild" EXACT [] synonym: "Psychomotor retardation, mild" RELATED [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C2229182 xref: UMLS:C4012968 is_a: HP:0001263 ! Global developmental delay property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-29T11:19:49Z [Term] id: HP:0011343 name: Moderate global developmental delay def: "A moderate delay in the achievement of motor or mental milestones in the domains of development of a child." [https://orcid.org/0000-0002-6410-0882] synonym: "Global developmental delay, moderate" EXACT [] synonym: "Psychomotor retardation, moderate" RELATED [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C2237142 is_a: HP:0001263 ! Global developmental delay property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-29T11:20:28Z [Term] id: HP:0011344 name: Severe global developmental delay def: "A severe delay in the achievement of motor or mental milestones in the domains of development of a child." [https://orcid.org/0000-0002-6410-0882] synonym: "Global developmental delay, severe" EXACT [] synonym: "Severe psychomotor retardation" RELATED [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1837397 xref: UMLS:C1854919 is_a: HP:0001263 ! Global developmental delay property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-29T11:20:45Z [Term] id: HP:0011368 name: Epidermal thickening alt_id: HP:0001035 def: "Thickening of the epidermal layer of the skin." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of keratinization" RELATED [] xref: ICD10:L85 xref: UMLS:C0494876 xref: UMLS:C4020752 is_a: HP:0001072 ! Thickened skin property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-03T12:25:18Z [Term] id: HP:0011380 name: Abnormal semicircular canal morphology def: "An abnormality of the morphology of the semicircular canal." [HPO_CONTRIBUTOR:DDD_dfitzpatrick] synonym: "Morphological abnormality of the semicircular canal" EXACT [] xref: UMLS:C4023386 is_a: HP:0000359 ! Abnormality of the inner ear property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-09T07:12:21Z [Term] id: HP:0011387 name: Enlarged vestibular aqueduct def: "Increased size of the vestibular aqueduct." [HPO_CONTRIBUTOR:DDD_mbitner-glidicz] comment: Enlarged vestibular aqueduct is commonly seen in Pendred syndrome. synonym: "Dilated vestibular aqueduct" EXACT [] synonym: "Widened vestibular aqueduct" EXACT [] xref: MSH:C566366 xref: UMLS:C1863752 is_a: HP:0000359 ! Abnormality of the inner ear property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-09T07:38:34Z [Term] id: HP:0011398 name: obsolete Central hypotonia property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 is_obsolete: true replaced_by: HP:0001252 creation_date: 2012-03-12T04:39:51Z [Term] id: HP:0011411 name: Forceps delivery synonym: "Forceps delivery" EXACT layperson [] xref: UMLS:C0341808 is_a: HP:0001787 ! Abnormal delivery property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-15T09:58:47Z [Term] id: HP:0011412 name: Ventouse delivery def: "Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately." [https://orcid.org/0000-0002-6410-0882] synonym: "Vacuum extraction" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Vacuum-assisted vaginal delivery" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D014620 xref: SNOMEDCT_US:10761101000119105 xref: SNOMEDCT_US:61586001 xref: UMLS:C0042225 xref: UMLS:C1456852 xref: UMLS:C2825567 is_a: HP:0001787 ! Abnormal delivery property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-15T09:59:31Z [Term] id: HP:0011442 name: Abnormal central motor function def: "An anomaly of the control or production of movement in the central nervous system." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of central motor function" EXACT [] xref: UMLS:C4023354 is_a: HP:0012638 ! Abnormal nervous system physiology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-18T02:29:04Z [Term] id: HP:0011446 name: Abnormality of mental function def: "Cognitive, psychiatric, or memory anomaly." [] comment: This includes abnormalities in speech, mood, emotions, behavior, and cognition. synonym: "Abnormality of higher mental function" EXACT [] xref: UMLS:C4023352 is_a: HP:0012638 ! Abnormal nervous system physiology property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-7062-8192 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-7941-2961 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9221-9226 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0183-1637 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1785-7126 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2291-6952 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4958-6025 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-18T04:23:59Z [Term] id: HP:0011451 name: Primary microcephaly def: "Head circumference below 2 standard deviations below the mean for age and gender at birth." [https://orcid.org/0000-0002-0736-9199] synonym: "Congenital decreased head circumference" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Congenital microcephaly" EXACT [] synonym: "Congenital small head" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Congenital small head circumference" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Congenital small skull" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased head circumference present at birth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Head circumference small for gestational age" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Microcephaly present at birth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Small cranium present at birth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Small head circumference present at birth" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Small head present at birth" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Small skull present at birth" BROAD [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C2677180 xref: UMLS:C4020749 is_a: HP:0000252 ! Microcephaly property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-18T06:50:36Z [Term] id: HP:0011458 name: Abdominal symptom def: "A subjective manifestation of disease localized to the abdomen." [] xref: UMLS:C0740651 is_a: HP:0025031 ! Abnormality of the digestive system property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-25T05:35:45Z [Term] id: HP:0011471 name: Gastrostomy tube feeding in infancy def: "Feeding problem necessitating gastrostomy tube feeding." [HPO_CONTRIBUTOR:DDD_ncarter] comment: This is an extremely severe form of feeding problems in infancy. synonym: "PEG-fed in infancy" RELATED [] xref: UMLS:C4020748 xref: UMLS:C4023342 is_a: HP:0008872 ! Feeding difficulties in infancy is_a: HP:0033454 ! Tube feeding property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-25T10:00:00Z [Term] id: HP:0011474 name: Childhood onset sensorineural hearing impairment def: "Sensorineural hearing impairment with childhood onset." [HPO_CONTRIBUTOR:DDD_dfitzpatrick] xref: UMLS:C4023340 is_a: HP:0000407 ! Sensorineural hearing impairment property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-30T07:18:09Z [Term] id: HP:0011476 name: Profound sensorineural hearing impairment def: "Complete loss of hearing related to a sensorineural defect." [HPO_CONTRIBUTOR:DDD_dfitzpatrick] xref: UMLS:C4023338 is_a: HP:0000407 ! Sensorineural hearing impairment property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-31T10:21:17Z [Term] id: HP:0011499 name: Mydriasis def: "Abnormal dilatation of the iris." [HPO_CONTRIBUTOR:DDD_ncarter] subset: hposlim_core synonym: "Dilated pupil" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D015878 xref: SNOMEDCT_US:37125009 xref: UMLS:C0026961 is_a: HP:0007686 ! Abnormal pupillary function property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-03T07:49:21Z [Term] id: HP:0011504 name: Bull's eye maculopathy def: "Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation." [https://orcid.org/0000-0001-8727-6592] synonym: "Chloroquine retinopathy" EXACT [https://orcid.org/0000-0001-5208-3432] xref: MSH:C537833 xref: SNOMEDCT_US:312958000 xref: SNOMEDCT_US:424169002 xref: UMLS:C0730330 xref: UMLS:C1828210 is_a: HP:0001103 ! Abnormal macular morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-06T08:57:53Z [Term] id: HP:0011555 name: Double inlet left ventricle def: "The condition in which both atria are joined to the left ventricle each by its own atrioventricular valve. Usually there is a hypoplastic right ventricle, which may be on the opposite side of the heart as usual." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] xref: EPCC:01.04.04 xref: ICD-10:Q20.4 xref: SNOMEDCT_US:253283000 xref: UMLS:C0344622 is_a: HP:0001627 ! Abnormal heart morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-07T11:53:33Z [Term] id: HP:0011565 name: Common atrium def: "Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] synonym: "Single atrium" EXACT [https://orcid.org/0000-0001-6908-9849] xref: Fyler:1140 xref: ICD-10:Q21.2 xref: SNOMEDCT_US:253276007 xref: UMLS:C0392482 is_a: HP:0001627 ! Abnormal heart morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T07:50:05Z [Term] id: HP:0011611 name: Interrupted aortic arch alt_id: HP:0006680 def: "Non-continuity of the arch of aorta with an atretic point or absent segment." [HPO_CONTRIBUTOR:DDD_dbrown] synonym: "Aortic arch obstruction" RELATED [] synonym: "Atretic transverse aortic arch" EXACT [] xref: Fyler:1241 xref: Fyler:1250 xref: SNOMEDCT_US:218728005 xref: UMLS:C0152419 is_a: HP:0001679 ! Abnormal aortic morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T03:17:10Z [Term] id: HP:0011659 name: Tetralogy of Fallot with absent pulmonary valve def: "Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue." [HPO_CONTRIBUTOR:DDD_dbrown] synonym: "Tetralogy of Fallot with absent pulmonary valve syndrome" EXACT [] xref: SNOMEDCT_US:399228007 xref: UMLS:C1302264 is_a: HP:0001636 ! Tetralogy of Fallot property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T10:15:04Z [Term] id: HP:0011705 name: First degree atrioventricular block def: "Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] comment: The conduction of the cardiac impulse through the atrioventricular node is manifested in the EKG by the PR interval, which is normally less that 200 milliseconds in adults. Normal values are age-dependent in children, but normal values are less that 160 milliseconds in young children. xref: SNOMEDCT_US:270492004 xref: UMLS:C0085614 is_a: HP:0030956 ! Abnormality of cardiovascular system electrophysiology property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-11T07:17:18Z [Term] id: HP:0011706 name: Second degree atrioventricular block def: "An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:195042002 xref: UMLS:C0264906 is_a: HP:0030956 ! Abnormality of cardiovascular system electrophysiology property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-11T07:22:35Z [Term] id: HP:0011712 name: Right bundle branch block def: "A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] synonym: "Right bundle-branch block" EXACT [] xref: MSH:D002037 xref: SNOMEDCT_US:59118001 xref: UMLS:C0085615 is_a: HP:0030956 ! Abnormality of cardiovascular system electrophysiology property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-11T08:02:08Z [Term] id: HP:0011713 name: Left bundle branch block def: "A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] xref: MSH:D002037 xref: SNOMEDCT_US:63467002 xref: UMLS:C0023211 is_a: HP:0030956 ! Abnormality of cardiovascular system electrophysiology property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-11T08:04:34Z [Term] id: HP:0011736 name: Primary hyperaldosteronism def: "A form of hyperaldosteronism caused by a defect within the adrenal gland." [https://orcid.org/0000-0002-0538-4547] xref: MSH:D006929 xref: SNOMEDCT_US:190507007 xref: SNOMEDCT_US:258117004 xref: UMLS:C1384514 is_a: HP:0000834 ! Abnormality of the adrenal glands property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-21T09:26:05Z [Term] id: HP:0011800 name: Midface retrusion alt_id: HP:0040199 def: "Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle." [https://orcid.org/0000-0002-9602-2321, PMID:19125436] subset: hposlim_core synonym: "Decreased projection of midface" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of midface" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Flat midface" EXACT [] synonym: "Hypoplasia of midface" EXACT [] synonym: "Hypotrophic midface" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Midface deficiency" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Midface hypoplasia" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Midface retrusion" EXACT layperson [] synonym: "Midface, flat" EXACT [] synonym: "Retrusive midface" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Small midface" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Underdevelopment of midface" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1853242 xref: UMLS:C2673410 xref: UMLS:C4280320 xref: UMLS:C4280321 is_a: HP:0000271 ! Abnormality of the face property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-24T07:46:05Z [Term] id: HP:0011804 name: Abnormal muscle physiology def: "A functional abnormality of a skeletal muscle." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of muscle physiology" EXACT [] synonym: "Issue with muscle function" EXACT layperson [] xref: UMLS:C4023182 is_a: HP:0003011 ! Abnormality of the musculature property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-25T02:00:15Z [Term] id: HP:0011805 name: Abnormal skeletal muscle morphology alt_id: HP:0003735 def: "A structural abnormality of a skeletal muscle." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal muscle morphology" EXACT [] synonym: "Abnormality of muscle morphology" EXACT [] synonym: "Abnormally shaped muscle" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Issue with muscle structure" EXACT layperson [] xref: UMLS:C4023181 is_a: HP:0003011 ! Abnormality of the musculature property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-25T02:00:34Z [Term] id: HP:0011808 name: Decreased patellar reflex def: "Decreased intensity of the patellar reflex (also known as the knee jerk reflex)." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased knee jerk reflex" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Decreased patellar reflexes" EXACT [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C3277184 is_a: HP:0001265 ! Hyporeflexia is_a: HP:0002814 ! Abnormality of the lower limb property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-27T08:38:22Z [Term] id: HP:0011821 name: Abnormal facial skeleton morphology def: "An abnormality of one or more of the set of bones that make up the facial skeleton." [https://orcid.org/0000-0002-2972-5481] comment: The facial skeleton comprises the mandible, maxilla, frontal bone, nasal bones, and zygoma, as well as the inferior nasal concha, the lacrimal bones, the palatine bone, and the vomer. synonym: "Abnormality of facial bones" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of facial skeleton" EXACT layperson [] synonym: "Anomaly of facial bones" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Anomaly of facial skeleton" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of facial skeleton" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the facial bones" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of facial bones" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of facial skeleton" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:433096001 xref: UMLS:C2315229 is_a: HP:0000929 ! Abnormal skull morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-29T04:37:30Z [Term] id: HP:0011840 name: Abnormality of T cell physiology alt_id: HP:0005402 def: "A functional anomaly of T cells." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023166 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues is_a: HP:0002715 ! Abnormality of the immune system is_a: HP:0011017 ! Abnormal cellular physiology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-06T10:44:50Z [Term] id: HP:0011841 name: Ventricular flutter def: "A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance." [https://orcid.org/0000-0002-0736-9199] comment: If untreated, ventricular flutter typically progresses to ventricular fibrillation. xref: MSH:D054141 xref: SNOMEDCT_US:111288001 xref: UMLS:C0152173 is_a: HP:0001649 ! Tachycardia property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-06T06:46:54Z [Term] id: HP:0011842 name: Abnormal skeletal morphology def: "An abnormality of the form, structure, or size of the skeletal system." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of skeletal morphology" EXACT [] synonym: "Abnormally shaped skeletal" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023165 is_a: HP:0000924 ! Abnormality of the skeletal system property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-07T08:08:37Z [Term] id: HP:0011848 name: Abdominal colic def: "A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity." [] comment: Colicky abdominal pain can be caused by kidney stones and gallstones, among other etiologies. This type of pain is thought to be caused by spasm, obstruction, or distension of any of the hollow viscera of the gastrointestinal system. xref: MSH:D003085 xref: SNOMEDCT_US:9991008 xref: UMLS:C0232488 is_a: HP:0002027 ! Abdominal pain property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-05-12T07:17:45Z [Term] id: HP:0011868 name: Sciatica def: "Pain in the lower back and hip radiating in the distribution of the sciatic nerve." [https://orcid.org/0000-0002-0736-9199, PMID:17872935] xref: MSH:D012585 xref: SNOMEDCT_US:23056005 xref: UMLS:C0036396 is_a: HP:0003418 ! Back pain property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-28T10:34:09Z [Term] id: HP:0011886 name: Hyphema def: "Bleeding in the anterior chamber of the eye." [https://orcid.org/0000-0002-0736-9199] xref: MSH:D006988 xref: SNOMEDCT_US:75229002 xref: UMLS:C0020581 is_a: HP:0000478 ! Abnormality of the eye is_a: HP:0001892 ! Abnormal bleeding is_a: HP:0011028 ! Abnormality of blood circulation property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-02T10:49:36Z [Term] id: HP:0011900 name: Hypofibrinogenemia def: "Decreased concentration of fibrinogen in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Low fibrinogen activity" EXACT [] synonym: "Low fibrinogen level" EXACT [] xref: SNOMEDCT_US:234457009 xref: UMLS:C0553681 is_a: HP:0001928 ! Abnormality of coagulation property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-03T03:39:47Z [Term] id: HP:0011902 name: Abnormal hemoglobin def: "Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal haemoglobin" EXACT uk_spelling [] synonym: "Abnormal Hb" EXACT abbreviation [] xref: UMLS:C0349705 is_a: HP:0001877 ! Abnormal erythrocyte morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-03T03:53:23Z [Term] id: HP:0011904 name: Persistence of hemoglobin F def: "Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased haemoglobin F" EXACT uk_spelling [] synonym: "Increased hemoglobin F" EXACT [] synonym: "Persistence of haemoglobin F" EXACT uk_spelling [] synonym: "Persistence of HbF" EXACT abbreviation [] xref: UMLS:C0239941 is_a: HP:0011902 ! Abnormal hemoglobin property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-03T05:03:00Z [Term] id: HP:0011906 name: Reduced beta/alpha synthesis ratio def: "A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia." [https://orcid.org/0000-0002-0736-9199, PMID:1060068] xref: UMLS:C4023137 is_a: HP:0011902 ! Abnormal hemoglobin property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-03T05:41:20Z [Term] id: HP:0011913 name: Lumbar hypertrichosis def: "Excessive, increased hair growth located in the lumbar region." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023130 is_a: HP:0001574 ! Abnormality of the integument property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-05T10:13:10Z [Term] id: HP:0011918 name: Clinodactyly of the 4th toe def: "Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe)." [https://orcid.org/0000-0002-0736-9199] synonym: "4th toe clinodactyly" RELATED [] synonym: "Curvature of 4th toe" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4020740 is_a: HP:0001863 ! Toe clinodactyly property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-08T08:44:27Z [Term] id: HP:0011923 name: Decreased activity of mitochondrial complex I def: "A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria." [https://orcid.org/0000-0002-0736-9199] synonym: "Respiratory complex I deficiency" RELATED [] xref: UMLS:C2677650 xref: UMLS:C4020739 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-08T09:02:29Z [Term] id: HP:0011924 name: Decreased activity of mitochondrial complex III def: "A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria." [https://orcid.org/0000-0002-0736-9199] synonym: "Respiratory complex III deficiency" RELATED [] xref: UMLS:C3149083 xref: UMLS:C4020738 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-08T09:04:26Z [Term] id: HP:0011950 name: Bronchiolitis def: "Inflammation of the bronchioles." [HPO_CONTRIBUTOR:DDD_tkuijpers] xref: DOID:2942 xref: MSH:D001988 xref: NCIt:C39658 xref: SNOMEDCT_US:4120002 xref: UMLS:C0006271 is_a: HP:0002205 ! Recurrent respiratory infections property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-21T08:36:11Z [Term] id: HP:0011968 name: Feeding difficulties def: "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [https://orcid.org/0000-0002-6647-5493] subset: hposlim_core synonym: "Feeding difficulties" EXACT layperson [] synonym: "Feeding problems" EXACT layperson [] synonym: "Poor feeding" EXACT layperson [] xref: SNOMEDCT_US:78164000 xref: UMLS:C0232466 is_a: HP:0011458 ! Abdominal symptom property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-18T10:25:05Z [Term] id: HP:0011974 name: Myelofibrosis def: "Replacement of bone marrow by fibrous tissue." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:52967002 xref: UMLS:C0026987 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-18T08:51:57Z [Term] id: HP:0011999 name: Paranoia def: "An inappropriate feeling of being persecuted or being the subject of hostility from others." [PMID:34618805] synonym: "Paranoia" EXACT layperson [] xref: MSH:D010259 xref: SNOMEDCT_US:191667009 xref: UMLS:C1456784 is_a: HP:0011446 ! Abnormality of mental function property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-7062-8192 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-7941-2961 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9221-9226 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0183-1637 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1785-7126 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2291-6952 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4958-6025 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-19T01:00:23Z [Term] id: HP:0012042 name: Aspirin-induced asthma def: "A type of asthma in which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) that inhibit cyclooxygen-ase 1 (COX-1) exacerbate bronchoconstriction." [PMID:12743549] synonym: "Aspirin-induced asthma" EXACT layperson [] xref: MSH:D055963 xref: SNOMEDCT_US:407674008 xref: UMLS:C1319853 is_a: HP:0002086 ! Abnormality of the respiratory system is_a: HP:0002715 ! Abnormality of the immune system property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-01T11:22:04Z [Term] id: HP:0012075 name: Personality disorder def: "A personality disorder is a deeply ingrained pattern of behavior of a specified kind that deviates markedly from the norms of generally accepted behavior. It is typically apparent by the time of adolescence and causes long-term difficulties in personal relationships or functioning in society." [] comment: A personality disorder is generally associated with significant problems and limitations in relationships, social encounters, work, and school. It usually manifests since childhood or adolescence and continues throughout adulthood. xref: ICD-10:F60 "Specific personality disorders" xref: MSH:D010554 xref: SNOMEDCT_US:33449004 xref: UMLS:C0031212 is_a: HP:0000708 ! Atypical behavior property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-1111-7357 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7954-5235 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2897-0458 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4298-5074 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4618-6544 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-08-11T02:20:27Z [Term] id: HP:0012076 name: Borderline personality disorder def: "A personality disorder characterized by impulsive behavior and unpredictable, capricious mood. Affected individuals show a tendency to have outbursts of emotion and an inability to control these behavioral explosions. They generally experience an intense fear of abandonment or instability and also struggle with feelings of emptiness." [] synonym: "BPD" EXACT abbreviation [] synonym: "Emotionally unstable personality disorder" EXACT [] synonym: "EUPD" EXACT [] xref: ICD-10:F60.3 "Emotionally unstable personality disorder, borderline type" xref: MSH:D001883 xref: SNOMEDCT_US:20010003 xref: UMLS:C0006012 is_a: HP:0012075 ! Personality disorder property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-1111-7357 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7954-5235 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2897-0458 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4298-5074 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4618-6544 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-08-11T02:26:02Z [Term] id: HP:0012086 name: Abnormal urinary color def: "An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal urinary color" EXACT layperson [] synonym: "Abnormal urinary colour" EXACT layperson [] synonym: "Abnormal urine color" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormal urine colour" EXACT uk_spelling [] xref: SNOMEDCT_US:102867009 xref: SNOMEDCT_US:167239007 xref: UMLS:C0522153 is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-20T09:12:30Z [Term] id: HP:0012098 name: Edema of the dorsum of feet def: "An abnormal accumulation of fluid beneath the skin on the back of the feet." [https://orcid.org/0000-0002-0736-9199] synonym: "Edema of dorsum of feet" EXACT [] synonym: "Oedema of dorsum of feet" EXACT uk_spelling [] synonym: "Oedema of the dorsum of feet" EXACT uk_spelling [] xref: SNOMEDCT_US:445124008 xref: UMLS:C2919341 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis is_a: HP:0002814 ! Abnormality of the lower limb property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-20T09:33:33Z [Term] id: HP:0012103 name: Abnormality of the mitochondrion def: "An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration." [https://orcid.org/0000-0002-0736-9199] synonym: "Mitochondrial abnormalities" RELATED [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C4020732 xref: UMLS:C4023042 is_a: HP:0011017 ! Abnormal cellular physiology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-09-08T11:05:06Z [Term] id: HP:0012115 name: Hepatitis def: "Inflammation of the liver." [https://orcid.org/0000-0002-0736-9199] synonym: "Liver inflammation" EXACT layperson [] xref: DOID:2237 xref: ICD10:B19 xref: MSH:D006505 xref: NCIt:C3095 xref: SNOMEDCT_US:128241005 xref: UMLS:C0019158 is_a: HP:0001392 ! Abnormality of the liver is_a: HP:0012649 ! Increased inflammatory response property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-09-16T05:03:29Z [Term] id: HP:0012167 name: Hair-pulling def: "A phenomenon in which persons repetitively pull out their own hair, resulting in noticeable hair loss." [https://orcid.org/0000-0002-0736-9199] synonym: "Trichotillomania" EXACT [] xref: MSH:D014256 xref: SNOMEDCT_US:17155009 xref: UMLS:C0040953 is_a: HP:0100716 ! Self-injurious behavior property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-02-20T07:16:10Z [Term] id: HP:0012194 name: Episodic hemiplegia def: "Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1863061 is_a: HP:0011442 ! Abnormal central motor function property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-02-27T07:26:26Z [Term] id: HP:0012199 name: Cluster headache def: "A type of headache characterized by repeated attacks of unilateral pain lasting 15 to 180 minutes and associated with local autonomic signs." [https://orcid.org/0000-0002-0736-9199, PMID:21912573] comment: According to the International Classification of Headache Disorders (ICHD-II), the diagnosis of cluster headache can be made with at least five attacks fulfilling criteria B-D: (B) Severe or very severe unilateral orbital, supraorbital and/or temporal pain lasting 15-180 minutes if untreated. (C) Headache is accompanied by at least 1 of the following: (i) Ipsilateral conjunctival injection and/or lacrimation. (ii) Ipsilateral nasal congestion and/or rhinorrhea. (iii) Ipsilateral eyelid edema. (iv) Ipsilateral forehead and facial sweating. (v) Ipsilateral miosis and/or ptosis. (vi) A sense of restlessness or agitation. (D) Attacks have a frequency from 1 every other day to 8/day. Additionally, the headaches cannot attributed to another disorder. xref: ICD-10:G44.0 "Cluster headache syndrome" xref: MSH:D003027 xref: SNOMEDCT_US:193031009 xref: SNOMEDCT_US:193947008 xref: SNOMEDCT_US:230473009 xref: UMLS:C0009088 is_a: HP:0002315 ! Headache property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-12T11:37:40Z [Term] id: HP:0012205 name: Globozoospermia def: "Any structural anomaly of the acrosome resulting in a round sperm head." [https://orcid.org/0000-0002-0736-9199, MP:0002686] xref: MSH:D000072660 xref: SNOMEDCT_US:236818008 xref: UMLS:C0403825 is_a: HP:0012864 ! Abnormal sperm morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-12T12:21:08Z [Term] id: HP:0012207 name: Reduced sperm motility def: "An abnormal reduction in the mobility of ejaculated sperm." [https://orcid.org/0000-0002-0736-9199] synonym: "Reduced sperm motility" EXACT layperson [] xref: UMLS:C4023002 is_a: HP:0000078 ! Abnormality of the genital system property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-12T12:23:59Z [Term] id: HP:0012210 name: Abnormal renal morphology alt_id: HP:0000792 alt_id: HP:0004726 alt_id: HP:0004735 alt_id: HP:0008712 def: "Any structural anomaly of the kidney." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal kidney morphology" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormally shaped kidney" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Kidney malformation" EXACT layperson [] synonym: "Kidney structure issue" EXACT layperson [] synonym: "Renal malformation" EXACT [] synonym: "Structural anomalies of the renal tract" EXACT [] synonym: "Structural kidney abnormalities" EXACT layperson [] synonym: "Structural renal anomalies" EXACT [] xref: Fyler:4512 xref: SNOMEDCT_US:44513007 xref: UMLS:C0266292 is_a: HP:0000077 ! Abnormality of the kidney property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-14T07:41:11Z [Term] id: HP:0012211 name: Abnormal renal physiology alt_id: HP:0000082 alt_id: HP:0000087 alt_id: HP:0005566 alt_id: HP:0008646 def: "An abnormal functionality of the kidney." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal kidney function" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormal renal function" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of renal physiology" EXACT [] synonym: "Kidney function issue" EXACT layperson [] synonym: "Renal functional abnormality" EXACT [] xref: SNOMEDCT_US:39539005 xref: UMLS:C0151746 xref: UMLS:C1848822 is_a: HP:0000077 ! Abnormality of the kidney is_a: HP:0011277 ! Abnormality of the urinary system physiology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-14T07:43:34Z [Term] id: HP:0012219 name: Erythema nodosum def: "An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral." [https://orcid.org/0000-0002-0736-9199] comment: The nodules of erythema nodosum are located predominantly on the shins with less common occurrence on the thighs and forearms. They undergo characteristic color changes ending in temporary bruise-like areas, and usually subside in 3-6 weeks without scarring or atrophy. xref: MSH:D004893 xref: SNOMEDCT_US:32861005 xref: UMLS:C0014743 is_a: HP:0011123 ! Inflammatory abnormality of the skin property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-30T06:57:07Z [Term] id: HP:0012227 name: Urethral stricture def: "Narrowing of the urethra associated with inflammation or scar tissue." [https://orcid.org/0000-0002-0736-9199] comment: A urethral stricture may result from surgery, disease, or injury. The term should not be used for a congenital narrowing of the urethra (Consider the term Urethral stenosis, HP:0008661). xref: MSH:D014525 xref: SNOMEDCT_US:236647003 xref: SNOMEDCT_US:76618002 xref: UMLS:C0041974 is_a: HP:0000079 ! Abnormality of the urinary system property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-30T07:37:46Z [Term] id: HP:0012228 name: Tension-type headache def: "A type of headache that last hours with continuous pain of mild or moderate intensity, bilateral location, a pressing/tightening (non-pulsating) quality and that is not aggravated by routine physical activity such as walking or climbing stairs." [https://orcid.org/0000-0002-0736-9199] synonym: "Tension-type headache" EXACT layperson [] xref: ICD-10:G44.2 "Tension-type headache" xref: MSH:D018781 xref: SNOMEDCT_US:398057008 xref: SNOMEDCT_US:66551002 xref: UMLS:C0033893 is_a: HP:0002315 ! Headache property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-30T07:50:13Z [Term] id: HP:0012232 name: Shortened QT interval def: "Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG)." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:77867006 xref: UMLS:C0151879 is_a: HP:0003115 ! Abnormal EKG property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-31T09:34:21Z [Term] id: HP:0012234 name: Agranulocytosis def: "Marked decrease in the number of granulocytes." [https://orcid.org/0000-0002-0736-9199] comment: Agranulocytosis is defined as an absolute neutrophil count less than 500 cells/microliter. xref: DOID:12987 xref: ICD10:D70 xref: MeSH:D000380 xref: NCIt:C107102 xref: SNOMEDCT:17182001 xref: UMLS:C0702094 is_a: HP:0001913 ! Granulocytopenia property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-31T09:42:50Z [Term] id: HP:0012235 name: Drug-induced agranulocytosis def: "A type of agranulocytosis related to ingestion of a specific medication." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:47318007 xref: UMLS:C0272178 is_a: HP:0012234 ! Agranulocytosis property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-31T09:44:55Z [Term] id: HP:0012248 name: Prolonged PR interval def: "Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex)." [https://orcid.org/0000-0002-0736-9199, PMID:23677846] comment: In adults, normal values are 120 to 200 ms long. synonym: "Electrocardiographic long PR interval" EXACT [] synonym: "Lengthened PR interval on EKG" EXACT [] xref: SNOMEDCT_US:164947007 xref: UMLS:C0600125 is_a: HP:0003115 ! Abnormal EKG property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T08:52:29Z [Term] id: HP:0012255 name: Dynein arm defect of respiratory motile cilia def: "An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy." [https://orcid.org/0000-0002-0736-9199, PMID:19606528] comment: The peripheral microtubules in the canonical 9 + 2 microtubular pattern of motile cilia are studded with dynein arms that contain adenosine triphosphatases and act as molecular motors to effect the sliding of the peripheral microtubular pairs relative to one another. xref: UMLS:C4022990 is_a: HP:0002086 ! Abnormality of the respiratory system property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T09:20:03Z [Term] id: HP:0012259 name: Absent inner and outer dynein arms def: "Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy." [https://orcid.org/0000-0002-0736-9199, PMID:19606528] xref: UMLS:C4022986 is_a: HP:0012255 ! Dynein arm defect of respiratory motile cilia property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T09:40:14Z [Term] id: HP:0012262 name: Abnormal ciliary motility def: "Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions." [https://orcid.org/0000-0002-0736-9199, PMID:19606528, PMID:20301301] comment: Ciliated epithelial cells bear approximately 200 motile (9 + 2) cilia that move with both intracellular and intercellular synchrony. The pattern of beat in 9 + 2 motile cilia occurs in a waveform having a forward effective stroke followed by a return stroke. The direction of stroke is a function of the directional orientation of the central microtubules. In addition to moving in synchrony, individual cilia in normal cells are very plastic and move fluidly, sometimes deforming briefly upon encountering resistance and/or particles being transported over the mucosal surface. Cilia are embedded in a watery periciliary fluid of low viscosity, which facilitates the rapid beat cycle to move the more viscous overlying layer of mucus. Ciliary beat frequency ranges from approximately 8-20 Hz under normal conditions but may be accelerated by exposure to irritants such as tobacco smoke. xref: UMLS:C4022983 is_a: HP:0002086 ! Abnormality of the respiratory system property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T10:10:35Z [Term] id: HP:0012276 name: Digital flexor tenosynovitis def: "Inflammation of the flexor digitorum tendon, often associated with the Kanavel signs: (i) finger held in slight flexion, (ii) fusiform swelling, (iii) tenderness along the flexor tendon sheath, and (iv) pain with passive extension of the digit." [https://orcid.org/0000-0002-0736-9199, PMID:16443118] comment: Tenosynovitis refers to inflammation of the protective sheath that surrounds a tendon. Stenosing tenosynovitis, or trigger finger, is diagnosed when a patient presents with a symptomatic locking or clicking of a finger or the thumb. It is caused by a mismatch between the volume of the flexor tendon sheath and its contents. As the flexor tendon attempts to glide through a relatively stenotic sheath, it catches, producing an inability to flex or extend the digit smoothly. synonym: "Trigger finger" EXACT layperson [] xref: UMLS:C4022974 is_a: HP:0011842 ! Abnormal skeletal morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T03:02:33Z [Term] id: HP:0012278 name: Abnormal circulating serine concentration def: "Any deviation from the normal concentration of serine in the blood circulation." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022972 is_a: HP:0004354 ! Abnormal circulating carboxylic acid concentration property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T03:57:10Z [Term] id: HP:0012304 name: Hypoplastic aortic arch def: "Underdevelopment of the arch of aorta." [https://orcid.org/0000-0002-0736-9199] synonym: "Aortic arch hypoplasia" EXACT [] synonym: "Underdeveloped aortic arch" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: Fyler:2704 xref: SNOMEDCT_US:60787001 xref: UMLS:C0265881 is_a: HP:0001679 ! Abnormal aortic morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-08-06T10:10:36Z [Term] id: HP:0012317 name: Sacroiliac arthritis def: "Inflammation of the sacroiliac joint, generally accompanied by lower back pain." [https://orcid.org/0000-0002-0736-9199] synonym: "Sacroiliitis" EXACT [] xref: MSH:C563037 xref: UMLS:C0748473 is_a: HP:0000925 ! Abnormality of the vertebral column property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-08-10T12:58:43Z [Term] id: HP:0012332 name: Abnormal autonomic nervous system physiology alt_id: HP:0002271 alt_id: HP:0002387 alt_id: HP:0002459 alt_id: HP:0007310 def: "A functional abnormality of the autonomic nervous system." [https://orcid.org/0000-0002-0736-9199] synonym: "Autonomic dysfunction" EXACT [] synonym: "Autonomic dysregulation" EXACT [] synonym: "Dysautonomia" EXACT [] xref: UMLS:C4022952 is_a: HP:0000707 ! Abnormality of the nervous system property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-09-13T07:53:55Z [Term] id: HP:0012364 name: Decreased urinary potassium def: "A decreased concentration of potassium(1+) in the urine." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased urinary K" EXACT abbreviation [] synonym: "Hypokaliuria" EXACT [] synonym: "Hypokaluria" EXACT [] synonym: "Low urine potassium levels" EXACT [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:54781007 xref: UMLS:C0268024 is_a: HP:0012598 ! Abnormal urine potassium concentration property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-10-03T10:21:51Z [Term] id: HP:0012378 name: Fatigue def: "A subjective feeling of tiredness characterized by a lack of energy and motivation." [https://orcid.org/0000-0002-0736-9199] comment: Fatigue is distinct from muscle weakness. synonym: "Fatigue" EXACT layperson [] synonym: "Tired" EXACT layperson [] synonym: "Tiredness" EXACT layperson [] xref: MSH:D005221 xref: SNOMEDCT_US:248274002 xref: SNOMEDCT_US:84229001 xref: UMLS:C0015672 is_a: EFO:0003765 ! sign or symptom is_a: HP:0025142 ! Constitutional symptom property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-10-15T08:52:04Z [Term] id: HP:0012382 name: Left-to-right shunt def: "Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right." [https://orcid.org/0000-0001-9114-8737] xref: SNOMEDCT_US:66130006 xref: UMLS:C0428870 is_a: HP:0001693 ! Cardiac shunt property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-10-16T11:54:21Z [Term] id: HP:0012385 name: Camptodactyly def: "The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Permanent flexion of the finger or toe" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:29271008 xref: UMLS:C0685409 is_a: HP:0001371 ! Flexion contracture property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-6996-5279 creation_date: 2013-10-20T08:08:19Z [Term] id: HP:0012388 name: Acute bronchitis def: "Inflammation of the large airways of the lung with rapid onset and short course usually associated with cough, mucus production, shortness of breath, wheezing, and chest tightness." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:10509002 xref: SNOMEDCT_US:35301006 xref: UMLS:C0149514 is_a: HP:0002088 ! Abnormal lung morphology property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-07T07:27:42Z [Term] id: HP:0012389 name: Appendicular hypotonia def: "Muscular hypotonia of one or more limbs." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022919 is_a: HP:0001252 ! Hypotonia property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-07T07:31:51Z [Term] id: HP:0012390 name: Anal fissure def: "A small tear in the thin, moist tissue (mucosa) that lines the anus. It appears as a crack or slit in the mucous membrane of the anus." [https://orcid.org/0000-0002-0736-9199] synonym: "Anal erosion" RELATED [] xref: MSH:D005401 xref: SNOMEDCT_US:20928004 xref: SNOMEDCT_US:30037006 xref: UMLS:C0016167 is_a: HP:0004378 ! Abnormality of the anus property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-07T07:36:49Z [Term] id: HP:0012410 name: Pure red cell aplasia def: "A type of anemia resulting from suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. Erythroblasts are virtually absent in bone marrow; however, leukocyte and platelet production show little or no reduction." [https://orcid.org/0000-0002-0736-9199] comment: Pure red cell aplasia results from a maturation arrest occurs in the formation of erythrocytes. synonym: "Red cell aplasia" EXACT [] xref: MSH:D012010 xref: SNOMEDCT_US:50715003 xref: UMLS:C0034902 is_a: HP:0001877 ! Abnormal erythrocyte morphology property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-10T11:36:59Z [Term] id: HP:0012424 name: Chorioretinitis def: "An inflammation of the choroid and retina." [https://orcid.org/0000-0001-5208-3432, PMID:16196117] comment: Chorioretinitis is a form of posterior uveitis. Note that the term Chorioretinitis suggests that the origin of the process is predominantly in the choroid while Retinitis suggests that the process is mainly in the retina. xref: ICD10:H30 xref: MSH:D002825 xref: SNOMEDCT_US:46627006 xref: UMLS:C0008513 is_a: HP:0000479 ! Abnormal retinal morphology is_a: HP:0000610 ! Abnormal choroid morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-11T08:10:29Z [Term] id: HP:0012430 name: Cerebral white matter hypoplasia def: "Underdevelopment of the cerebral white matter." [https://orcid.org/0000-0002-0736-9199] synonym: "Paucity of cerebral white matter" RELATED [] xref: UMLS:C4020727 xref: UMLS:C4022908 is_a: HP:0002500 ! Abnormal cerebral white matter morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-13T07:42:02Z [Term] id: HP:0012438 name: Abnormal gallbladder physiology def: "A functional anomaly of the gallbladder." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022903 is_a: HP:0001392 ! Abnormality of the liver property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-23T01:17:00Z [Term] id: HP:0012440 name: Abnormal biliary tract morphology def: "A structural abnormality of the biliary tree." [https://orcid.org/0000-0002-0736-9199] synonym: "Anomaly of the biliary tract" EXACT [] xref: UMLS:C4021086 is_a: HP:0001392 ! Abnormality of the liver property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-23T02:15:33Z [Term] id: HP:0012443 name: Abnormal brain morphology def: "A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal shape of brain" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of brain morphology" EXACT [] synonym: "Abnormality of the brain" EXACT layperson [] xref: UMLS:C4021085 is_a: HP:0002011 ! Morphological central nervous system abnormality property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-23T02:38:00Z [Term] id: HP:0012444 name: Brain atrophy def: "Partial or complete wasting (loss) of brain tissue that was once present." [https://orcid.org/0000-0002-0736-9199] synonym: "Brain degeneration" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Brain wasting" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:278849000 xref: SNOMEDCT_US:418143002 xref: SNOMEDCT_US:52522001 xref: UMLS:C0154671 xref: UMLS:C0235946 is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system is_a: HP:0012443 ! Abnormal brain morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-23T02:46:15Z [Term] id: HP:0012447 name: Abnormal myelination def: "Any anomaly in the process by which myelin sheaths are formed and maintained around neurons." [https://orcid.org/0000-0002-0736-9199, MP:0000920] xref: UMLS:C1857704 is_a: HP:0000707 ! Abnormality of the nervous system property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-23T03:45:58Z [Term] id: HP:0012448 name: Delayed myelination def: "Delayed myelination." [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:135810007 xref: UMLS:C1277241 is_a: HP:0012447 ! Abnormal myelination property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-23T03:47:56Z [Term] id: HP:0012450 name: Chronic constipation def: "Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation." [https://orcid.org/0000-0001-5208-3432] synonym: "Chronic constipation" EXACT layperson [] synonym: "Infrequent bowel movements" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:236069009 xref: UMLS:C0401149 is_a: HP:0002019 ! Constipation property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-23T04:03:43Z [Term] id: HP:0012470 name: Setting-sun eye phenomenon def: "An ophthalmologic sign in young children resulting from upward-gaze paresis. In this condition, the eyes appear driven downward, the sclera may be seen between the upper eyelid and the iris, and part of the lower pupil may be covered by the lower eyelid." [https://orcid.org/0000-0002-0736-9199, PMID:17030938] comment: Setting-sun eye phenomenon can also be transiently elicited in healthy infants up to 7 months of age by changes of position or removal of light (benign setting-sun phenomenon). When persistent, this sign is one of the most frequent markers of elevated intracranial pressure. synonym: "Eyes fixed downward" RELATED layperson [] synonym: "Setting-sun eye phenomenon" EXACT layperson [] synonym: "Sun setting eyes" EXACT layperson [] synonym: "Sunsetting eye" EXACT layperson [] xref: SNOMEDCT_US:63342001 xref: UMLS:C0423128 xref: UMLS:C4020721 is_a: HP:0000478 ! Abnormality of the eye property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-26T05:40:01Z [Term] id: HP:0012471 name: Thick vermilion border def: "Increased width of the skin of vermilion border region of upper lip." [https://orcid.org/0000-0002-0736-9199] synonym: "Full lips" EXACT layperson [] synonym: "Increased volume of lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased volume of lip vermillion" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Plump lips" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent lips" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Thick lips" EXACT layperson [] xref: UMLS:C1836543 is_a: HP:0000153 ! Abnormality of the mouth property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-26T09:07:51Z [Term] id: HP:0012514 name: Lower limb pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg." [https://orcid.org/0000-0001-5208-3432] synonym: "Leg pain" EXACT layperson [] synonym: "Lower limb pain" EXACT layperson [] xref: SNOMEDCT_US:10601006 xref: UMLS:C0023222 is_a: HP:0009763 ! Limb pain property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-08T09:10:29Z [Term] id: HP:0012520 name: Dilation of Virchow-Robin spaces def: "Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery." [https://orcid.org/0000-0001-5208-3432, PMID:17620468, PMID:23867200, PMID:25564639] comment: Virchow-Robin spaces are commonly seen at magnetic resonance imaging. These perivascular spaces as fluid-filled spaces that follow the typical course of a vessel as it goes through grey or white matter. The spaces have signal intensity similar to that of cerebrospinal fluid (CSF) on all magnetic resonance sequences. synonym: "Dilated cerebral perivascular spaces" RELATED [] synonym: "Dilated Virchow-Robin spaces" EXACT [] synonym: "Perivascular spaces" EXACT [] xref: UMLS:C1853618 xref: UMLS:C4020719 is_a: HP:0100659 ! Abnormal cerebral vascular morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-09T07:17:47Z [Term] id: HP:0012532 name: Chronic pain def: "Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months." [https://orcid.org/0000-0002-0736-9199, PMID:1875958] comment: Acute pain is provoked by a specific disease or injury, serves a useful biologic purpose, is associated with skeletal muscle spasm and sympathetic nervous system activation, and is self-limited. Chronic pain, in contrast, may be considered a disease state. It is pain that outlasts the normal time of healing. synonym: "Chronic pain" EXACT layperson [] synonym: "Long-lasting pain" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D059350 xref: SNOMEDCT_US:82423001 xref: UMLS:C0150055 is_a: EFO:0003843 ! pain is_a: HP:0025142 ! Constitutional symptom relationship: has_modifier HP:0011010 ! Chronic property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-15T09:46:55Z [Term] id: HP:0012587 name: Macroscopic hematuria def: "Hematuria that is visible upon inspection of the urine." [https://orcid.org/0009-0006-4530-3154] synonym: "Bloody urine" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Gross hematuria" EXACT [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:197941005 xref: UMLS:C0473237 is_a: HP:0000790 ! Hematuria property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T03:31:44Z [Term] id: HP:0012590 name: Abnormal urine output def: "An abnormal amount of urine production." [HPO_CONTRIBUTOR:Eurenomics_ewuehl] xref: UMLS:C3693260 is_a: HP:0012211 ! Abnormal renal physiology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T03:59:33Z [Term] id: HP:0012594 name: Moderate albuminuria def: "The presence of moderately increased concentrations of albumin in the urine, defined as and albumin-creatinine ratio (ACR) of 30 to 299 mg/gm (3.4 to 34 mg/mmol)." [HPO_CONTRIBUTOR:Eurenomics_fschaefer, PMID:30571025] synonym: "High urine albumin levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Microalbuminuria" EXACT [] xref: SNOMEDCT_US:312975006 xref: UMLS:C0730345 xref: UMLS:C1654921 is_a: EFO:0004285 ! albuminuria property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T05:54:41Z [Term] id: HP:0012595 name: Mild proteinuria def: "Mildly increased levels of protein in the urine (150-500 mg per day in adults)." [HPO_CONTRIBUTOR:Eurenomics_eweuehl] xref: UMLS:C4022832 is_a: HP:0000093 ! Proteinuria property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T05:55:47Z [Term] id: HP:0012598 name: Abnormal urine potassium concentration def: "An abnormal concentration of potassium(1+) in the urine." [HPO_CONTRIBUTOR:Eurenomics_fschaefer] synonym: "Abnormal urine K concentration" EXACT abbreviation [] xref: UMLS:C4022829 is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T06:11:59Z [Term] id: HP:0012603 name: Abnormal urine sodium concentration def: "An abnormal concentration of sodium in the urine." [HPO_CONTRIBUTOR:Eurenomics_fschaefer] synonym: "Abnormal urine Na concentration" EXACT [] synonym: "Abnormal urine Na+ levels" EXACT [] xref: UMLS:C4022825 is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T06:19:27Z [Term] id: HP:0012614 name: Abnormal urine cytology def: "An anomalous finding in the examination of the urine for cells." [HPO_CONTRIBUTOR:Eurenomics_ewuehl] xref: SNOMEDCT_US:310439007 xref: UMLS:C0587955 is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-17T12:01:16Z [Term] id: HP:0012638 name: Abnormal nervous system physiology def: "A functional anomaly of the nervous system." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of nervous system physiology" EXACT [] xref: UMLS:C4022811 is_a: HP:0000707 ! Abnormality of the nervous system property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-19T08:02:46Z [Term] id: HP:0012647 name: Abnormal inflammatory response def: "Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages." [https://orcid.org/0000-0001-9114-8737] synonym: "Abnormal inflammatory response" EXACT layperson [] xref: UMLS:C4022805 is_a: HP:0002715 ! Abnormality of the immune system property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-02-01T01:25:42Z [Term] id: HP:0012649 name: Increased inflammatory response def: "A abnormal increase in the inflammatory response to injury or infection." [https://orcid.org/0000-0001-9114-8737] xref: UMLS:C4022803 is_a: HP:0012647 ! Abnormal inflammatory response property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-02-01T01:29:58Z [Term] id: HP:0012664 name: Reduced left ventricular ejection fraction def: "A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle." [https://orcid.org/0000-0002-0736-9199] comment: The normal range is at least 55 percent. synonym: "Reduced ejection fraction" EXACT [] xref: UMLS:C4022792 is_a: HP:0011025 ! Abnormal cardiovascular system physiology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-02-15T01:03:37Z [Term] id: HP:0012675 name: Iron accumulation in brain def: "An abnormal build up of iron (Fe) in brain tissue." [https://orcid.org/0000-0002-0736-9199] synonym: "Brain iron deposition" EXACT [] synonym: "Iron accumulation in brain" EXACT layperson [] xref: UMLS:C4021076 is_a: HP:0012443 ! Abnormal brain morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-03-13T07:22:40Z [Term] id: HP:0012704 name: Widened subarachnoid space def: "An increase in size of the anatomic space between the arachnoid membrane and pia mater." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlarged subarachnoid space" EXACT [] synonym: "Widened subarachnoid spaces" RELATED [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1846151 is_a: HP:0002011 ! Morphological central nervous system abnormality property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-22T07:59:21Z [Term] id: HP:0012718 name: Abnormal gastrointestinal tract morphology def: "Abnormal structure of the gastrointestinal tract." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal shape of the digestive system" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Morphological abnormality of the gastrointestinal tract" EXACT [] synonym: "Morphological abnormality of the GI tract" EXACT abbreviation [] synonym: "Morphological anomaly of the digestive system" EXACT [] xref: UMLS:C4021073 is_a: HP:0011024 ! Abnormality of the gastrointestinal tract property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T01:09:02Z [Term] id: HP:0012719 name: Functional abnormality of the gastrointestinal tract def: "Abnormal functionality of the gastrointestinal tract." [https://orcid.org/0000-0002-0736-9199] synonym: "Functional abnormality of the GI tract" EXACT abbreviation [] synonym: "GI dysfunction" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4022755 is_a: HP:0011024 ! Abnormality of the gastrointestinal tract property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T01:10:47Z [Term] id: HP:0012735 name: Cough def: "A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation." [https://orcid.org/0000-0002-0736-9199, PMID:16428719, PMID:17540788] comment: The European Respiratory Society Task Force recommended two possible definitions of cough: (1) A three-phase expulsive motor act characterized by an inspiratory effort (inspiratory phase) followed by a forced expiratory effort against a closed glottis (compressive phase) and then by opening of the glottis and rapid expiratory airflow (expulsive phase);and (2) A forced expiratory manoeuvre, usually against a closed glottis and associated with a characteristic sound. The term Cough or any of its more specific descendents can be modified by the terms Acute (HP:0011009), Subacute (HP:0011011), and Chronic (HP:0011010). In adults, an acute cough lasts less than 3 weeks, a subacute cough from 3 to 8 weeks, and a chronic cough longer than 8 weeks. In children aged less than 15 years a chronic cough is defined as a daily cough lasting for over 4 weeks. synonym: "Cough" EXACT layperson [] synonym: "Coughing" EXACT layperson [] xref: MSH:D003371 xref: SNOMEDCT_US:263731006 xref: SNOMEDCT_US:272039006 xref: SNOMEDCT_US:49727002 xref: UMLS:C0010200 is_a: HP:0002086 ! Abnormality of the respiratory system property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T03:19:50Z [Term] id: HP:0012736 name: Profound global developmental delay def: "A profound delay in the achievement of motor or mental milestones in the domains of development of a child." [https://orcid.org/0000-0002-6410-0882] synonym: "Global developmental delay, profound" EXACT [] synonym: "Psychomotor retardation, profound" RELATED [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1855773 xref: UMLS:C3553450 is_a: HP:0001263 ! Global developmental delay property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T03:21:25Z [Term] id: HP:0012745 name: Short palpebral fissure def: "Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures." [PMID:19125427] subset: hposlim_core synonym: "Decreased height of palpebral fissure" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Short opening between the eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Short palpebral fissures" EXACT [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:246802000 xref: UMLS:C0423112 is_a: HP:0000271 ! Abnormality of the face property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T05:27:40Z [Term] id: HP:0012758 name: Neurodevelopmental delay def: "Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems." [https://orcid.org/0000-0002-6670-9157, PMID:31783983] comment: Though the definitions of NDD vary broadly in the literature, all are used to signify a delay in one or more developmental domains compared to typical development. synonym: "NDD" EXACT abbreviation [] xref: UMLS:C4022738 is_a: HP:0012759 ! Neurodevelopmental abnormality property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-04-03T12:16:19Z [Term] id: HP:0012759 name: Neurodevelopmental abnormality def: "A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities." [HPO_CONTRIBUTOR:KI_phemming] comment: This term should be used to describe abnormalities with onset in the developmental period. xref: UMLS:C4022737 is_a: HP:0012638 ! Abnormal nervous system physiology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-04-03T12:20:28Z [Term] id: HP:0012762 name: Cerebral white matter atrophy def: "The presence of atrophy (wasting) of the cerebral white matter." [HPO_CONTRIBUTOR:UToronto_htrang] xref: UMLS:C4022735 is_a: HP:0002500 ! Abnormal cerebral white matter morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-04-06T10:55:36Z [Term] id: HP:0012803 name: Anisometropia def: "Inequality of refractive power of the two eyes." [https://orcid.org/0000-0002-0736-9199] xref: MSH:D015858 xref: SNOMEDCT_US:3289004 xref: UMLS:C0003081 is_a: HP:0000539 ! Abnormality of refraction property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-05-25T03:05:21Z [Term] id: HP:0012823 name: obsolete_clinical modifier property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "3.15.0" xsd:string is_obsolete: true replaced_by: http://www.ebi.ac.uk/efo/EFO_0010569 [Term] id: HP:0012864 name: Abnormal sperm morphology def: "A structural anomaly of sperm." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal shape of sperm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Teratospermia" EXACT [] synonym: "Teratozoospermia" EXACT [] xref: MSH:D000072660 xref: SNOMEDCT_US:236817003 xref: UMLS:C0403824 is_a: HP:0000078 ! Abnormality of the genital system property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-09T10:07:03Z [Term] id: HP:0012868 name: Abnormal sperm tail morphology def: "A structural abnormality of the sperm tail." [https://orcid.org/0000-0002-0736-9199, PMID:22198630] comment: The ultrastructure of the mammalian flagellum is highly conserved and is structurally divided into four major parts: the connecting piece, the mid piece, the principal piece, and the end piece. The axoneme extends from the remnant of the centriole attached to the implantation fossa of the nucleus and is the core structure along the length of the sperm tail. Defective sperm flagella are the principal cause of sperm motility disorders. synonym: "Sperm tail anomaly" EXACT [] xref: UMLS:C4022699 is_a: HP:0012864 ! Abnormal sperm morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-09T10:50:50Z [Term] id: HP:0012873 name: Absent vas deferens def: "Aplasia (congenital absence) of the vas deferens." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent deferent duct" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Absent ductus deferens" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Congenital absence of the vas deferens" EXACT [] xref: SNOMEDCT_US:300506000 xref: SNOMEDCT_US:5286009 xref: SNOMEDCT_US:702610009 xref: UMLS:C0266444 is_a: HP:0000022 ! Abnormal male internal genitalia morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-09T11:14:47Z [Term] id: HP:0012876 name: Premature ejaculation def: "The emission of semen and seminal fluid during the act of preparation for sexual intercourse, i.e. before there is penetration, or shortly after penetration." [https://orcid.org/0000-0002-0736-9199] synonym: "Premature ejaculation" EXACT layperson [] xref: MSH:D061686 xref: SNOMEDCT_US:44001008 xref: UMLS:C0033038 is_a: HP:0000078 ! Abnormality of the genital system property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-09T11:24:37Z [Term] id: HP:0012877 name: Retrograde ejaculation def: "The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:50112006 xref: UMLS:C0403673 is_a: HP:0000078 ! Abnormality of the genital system property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-09T11:25:24Z [Term] id: HP:0012899 name: Handgrip myotonia def: "Difficulty releasing one's grip associated with prolonged first handgrip relaxation times." [HPO_CONTRIBUTOR:UToronto_htrang, PMID:22987687] synonym: "Grip myotonia" EXACT [] xref: UMLS:C1868623 is_a: HP:0011804 ! Abnormal muscle physiology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-23T11:10:53Z [Term] id: HP:0020046 name: Accommodative esotropia def: "A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex." [https://orcid.org/0000-0003-0986-4123] comment: Accommodative esotropia refers to strabismus (cross of the eyes) that occurs with focusing efforts of the eyes. xref: PMID:30098192 is_a: EFO:0003966 ! eye disease is_a: HP:0000565 ! Esotropia property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2017-12-20T17:25:43Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020083 name: Furuncle def: "An infection of a hair follicle that extends subcutaneously, forming an abscess." [] synonym: "Boil" EXACT layperson [] is_a: HP:0011123 ! Inflammatory abnormality of the skin property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T16:59:51Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020139 name: History of recent insect bite def: "Medical history of a recent bite injury due to an insect." [PMID:24364549] is_a: EFO:0000352 ! clinical history property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-05T17:46:38Z [Term] id: HP:0020174 name: Refractory drug response def: "Absent or significantly reduced efficacy of drug intervention characterized by lack of measurable benefit or deterioration of disease course." [https://orcid.org/0000-0002-7440-8864, PMID:29188449] synonym: "Drug resistance" EXACT [] is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-06T21:47:57Z [Term] id: HP:0025004 name: Hallux rigidus def: "Osteoarthritis of the metatarsophalangeal joint of the first toe." [https://orcid.org/0000-0002-0736-9199, PMID:24649409] comment: Hallux rigidus is characterised by arthralgia, which is usually worsened by walking. With time the joint enlarges and the symptoms become more pronounced with pain at the dorsal bony prominence of the first metatarsophalengeal joint (MTPJ) and decreased range of motion, especially dorsiflexion. In this process the destruction of the cartilage commonly starts at the dorsal portion of the metatarsal head and the bony prominence might impinge against the proximal phalanx.. Physical examination usually shows a painful, tender and swollen first MTPJ with limited motion and pain usually when dorsiflexed. Typical radiographic findings are asymmetric joint narrowing and a flattened metatarsal head. With advancement of the disease more of the joint surface is involved and subchondral cysts, sclerosis and bony proliferation at the joint margins occur and the joint narrowing progresses [PMID:24649409]. synonym: "Arthritis of the big toe" EXACT layperson [] xref: MSH:D020859 xref: SNOMEDCT_US:6654000 xref: UMLS:C0264134 is_a: HP:0001780 ! Abnormal toe morphology property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2016-06-25T09:23:22Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025031 name: Abnormality of the digestive system comment: Any anomaly of the digestive system, a collection of organs that is made up of the gastrointestinal tract and the liver, pancreas, and gallbladder. The gastrointestinal tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus, including the mouth, esophagus, stomach, small intestine, large intestine and anus. xref: ICD10:Q45 xref: ICD10:R19 is_a: HP:0000118 ! Phenotypic abnormality property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2016-08-27T13:44:32Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025095 name: Sneeze def: "A sudden violent, spasmodic, audible expiration of breath through the nose and mouth." [] xref: MeSH:D012912 xref: NCIt:C50746 xref: SNOMEDCT:76067001 is_a: HP:0025142 ! Constitutional symptom property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2016-10-24T01:36:17Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025116 name: Fetal distress def: "An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile." [] comment: Fetal distress in itself is a non-specific term as the various parameters characterizing the type and degree of distress are themselves ill defined. Nonethless the term is in broad clinical use and thus is included as an HPO term. It is preferable to annotate with more precise terms if possible. synonym: "Foetal distress" EXACT uk_spelling [] is_a: HP:0001197 ! Abnormality of prenatal development or birth property_value: http://purl.org/dc/elements/1.1/date 2016-11-01T10:13:06Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025142 name: Constitutional symptom def: "A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual." [] comment: Note that we use the preferred term label constitutional symptom because this reflects common usage, but we do not restrict the term or its descendents to the narrow meaning of symptom, i.e., a complaint related by a patient to a physician. There is no generally accepted classification of what defines a constitutional symptom, but examples include weight loss, fatigue, general weakness, night sweats, shaking, chills, fever, and vomiting. is_a: HP:0000118 ! Phenotypic abnormality property_value: http://purl.org/dc/elements/1.1/date 2016-11-29T11:02:54Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025200 name: Muscle fiber actin filament accumulation def: "Accumulation in muscle cells of filaments composed of actin." [] synonym: "Muscle fibre actin filament accumulation" EXACT uk_spelling [] is_a: HP:0011805 ! Abnormal skeletal muscle morphology property_value: http://purl.org/dc/elements/1.1/date 2016-12-06T03:05:47Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025234 name: Parasomnia def: "An undesirable physical event or experience that occurs during the process of falling asleep, while asleep, or when waking up from sleep." [PMID:35956054] synonym: "Event that disrupts sleep" EXACT [] is_a: HP:0011446 ! Abnormality of mental function property_value: http://purl.org/dc/elements/1.1/date 2016-12-14T11:50:48Z xsd:dateTime property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-6262-8264 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9446-5121 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-1592-0825 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4672-4923 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-5554-6946 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7367-663X property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025236 name: Somnambulism def: "Ambulation or other complex motor behaviors may occur after getting out of bed in a sleep-like state. During sleepwalking episodes, the individual who is somnambulating appears confused or dazed, with their eyes usually open. They may mumble or give inappropriate answers to questions, and occasionally appear agitated." [PMID:32644427|PMID\:30458142] comment: During an episode of sleepwalking, the somnambulating child typically appears clumsy and might perform unusual actions, such as urinating in a closet. Injuries can occur during sleepwalking, including falling downstairs or when leaving the house. synonym: "Sleep walking" EXACT layperson [https://orcid.org/0000-0002-0736-9199] is_a: HP:0025234 ! Parasomnia property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2016-12-14T12:01:00Z xsd:dateTime property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-6262-8264 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9446-5121 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-1592-0825 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4672-4923 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-5554-6946 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7367-663X property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025246 name: Trichilemmal cyst def: "Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Trichilemmal cysts are acquired rather than congenital, and tend to appear on the scalp rather than the face, and to be intradermal rather than subcutaneous." [] comment: Epidermal cysts and trichilemmal cysts are clinically indistinguishable. The wall of the epidermal cyst conserves the epidermal layers, but the wall of the trichilemmal cysts, which arise from the external root sheath, shows palisading of unlayered epithelial cells. Homogeneous horny material that is further degraded to fat and cholesterol forms within both types of cysts. synonym: "Pilar cyst" EXACT [] is_a: HP:0011121 ! Abnormal skin morphology property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T13:45:04Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025258 name: Stiff neck def: "A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side." [] synonym: "Neck stiffness" EXACT layperson [] synonym: "Stiff neck" EXACT layperson [] is_a: HP:0001387 ! Joint stiffness is_a: HP:0005986 ! Limitation of neck motion property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T01:06:15Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025267 name: Snoring def: "Deep, noisy breathing during sleep, accompanied by hoarse or harsh sounds, is caused by the vibration of respiratory structures, especially the soft palate. This vibration results in sound due to obstructed air movement during breathing while sleeping." [PMID:35216759] synonym: "Snore" EXACT [] synonym: "Snores" EXACT [] synonym: "Snoring symptoms" EXACT [] is_a: HP:0011446 ! Abnormality of mental function property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T13:24:58Z xsd:dateTime property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-6262-8264 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9446-5121 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-1592-0825 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4672-4923 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-5554-6946 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7367-663X property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025268 name: Stuttering def: "Disruptions in the production of speech sounds, with involuntary repetitions of words or parts of words, prolongations of speech sounds, or complete blockage of speech production for several seconds." [] synonym: "Stammering" EXACT layperson [https://orcid.org/0000-0002-0736-9199] synonym: "Stuttering" EXACT layperson [] is_a: HP:0002167 ! Abnormality of speech or vocalization property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T13:27:31Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025270 name: Abnormal esophagus physiology def: "Any physiological abnormality of the esophagus." [] synonym: "Abnormality of esophagus physiology" EXACT [] synonym: "Abnormality of oesophagus physiology" EXACT uk_spelling [] synonym: "Functional abnormality of the esophagus" EXACT [] synonym: "Functional abnormality of the oesophagus" EXACT uk_spelling [] is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T13:39:06Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025324 name: Arterial occlusion def: "Blockage of blood flow through an artery." [] is_a: HP:0002597 ! Abnormality of the vasculature is_a: HP:0011025 ! Abnormal cardiovascular system physiology property_value: http://purl.org/dc/elements/1.1/date 2017-02-03T12:09:18Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025328 name: Antepartum hemorrhage def: "Significant maternal hemorrhage/bleed in the second half of pregnancy and prior to the birth of the baby." [] synonym: "Antepartum haemorrhage" EXACT uk_spelling [] synonym: "Prepartum haemorrhage" EXACT uk_spelling [] synonym: "Prepartum hemorrhage" EXACT [] is_a: HP:0001892 ! Abnormal bleeding is_a: HP:0011028 ! Abnormality of blood circulation is_a: MP:0001914 ! hemorrhage property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2017-02-11T11:09:10Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025354 name: Abnormal cellular phenotype def: "An anomaly of cellular morphology or physiology." [] is_a: HP:0000118 ! Phenotypic abnormality property_value: http://purl.org/dc/elements/1.1/date 2017-02-13T00:29:35Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025382 name: Hypodipsia def: "Reduced fluid intake (drinking) in a clinical situation where the plasma molarity or sodium concentration normally would induce greater fluid intake." [PMID:25949488] is_a: HP:0030082 ! Abnormal drinking behavior property_value: http://purl.org/dc/elements/1.1/date 2017-04-20T11:10:08Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025423 name: Abnormal larynx morphology def: "Any anomaly of the structure of the larynx." [] is_a: HP:0001600 ! Abnormality of the larynx property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T12:44:49Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025425 name: Laryngospasm def: "A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe." [] is_a: HP:0001600 ! Abnormality of the larynx property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T12:48:07Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025428 name: Bronchospasm def: "A spasm (sudden, involuntary constriction) of the bronchioles." [] is_a: HP:0002086 ! Abnormality of the respiratory system property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T12:52:53Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025517 name: Hypoplastic hippocampus def: "Underdevelopment of the hippocampus." [] synonym: "Small hippocampus" EXACT layperson [] synonym: "Underdeveloped hippocampus" EXACT [] is_a: HP:0012443 ! Abnormal brain morphology property_value: http://purl.org/dc/elements/1.1/date 2017-05-16T22:42:57Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025534 name: Ocular melanocytosis def: "A congenital lesion of the sclera characterized by unilateral patchy but extensive slate-gray or bluish discoloration of the sclera . The conjunctiva are spared." [] comment: In ocular melanocytosis, Intraocular pigmentation is also increased, which contributes to a higher incidence of glaucoma and increases the risk of malignant melanoma. synonym: "Melanosis oculi" EXACT [] synonym: "Ocular melanosis" EXACT [] is_a: HP:0000478 ! Abnormality of the eye property_value: http://purl.org/dc/elements/1.1/date 2017-05-18T01:13:19Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025700 name: Anhydramnios def: "A complete or near-complete lack of amniotic fluid surrounding a fetus. This finding can be observed sonographically in the third trimesters if the deepest pocket of amniotic fluid is less than or equal to 2 cm." [PMID:34230606] is_a: HP:0001560 ! Abnormality of the amniotic fluid property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0030016 name: Dyspareunia def: "Recurrent or persistent genital pain associated with sexual intercourse." [PMID:16391543] comment: Dyspareunia can develop secondary to medical problems such as vestibulitis, vaginal atrophy, or vaginal infection. It can be either physiologically or psychologically based, or a combination of the two. {xref="PMID:16391543"} xref: MSH:D004414 xref: SNOMEDCT_US:71315007 xref: UMLS:C1384606 is_a: HP:0000078 ! Abnormality of the genital system property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0030051 name: Tip-toe gait alt_id: HP:0002394 alt_id: HP:0040083 def: "An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait." [PMID:24757457, PMID:26709689] comment: Tip-toe walking (or simply toe-walking) is common in healthy young children, and should resolve spontaneously by 3 years of age. After this age, tip-toe gait must be differentiated from habitual toe gait, congenital short tendo calcaneus, cerebral palsy, syringomyelia, spinal tumor, hematoma in a lower limb muscle, or neuromuscular diseases like muscular dystrophy, Charcot-Marie-Tooth disease and hereditary sensorimotor neuropathies. If the toe gait persists for 2-3 years, this gait pattern is not considered to be habitual. Therefore, the judgment of habitual toe gait should not be determined without evaluation for other diseases. synonym: "Tiptoe gait" EXACT [] synonym: "Toe walking" EXACT layperson [] synonym: "Walking on tiptoes" EXACT layperson [] xref: UMLS:C1843570 is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0030052 name: Inguinal freckling def: "The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin." [] synonym: "Freckles in groin region" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1834297 is_a: EFO:0003963 ! freckles is_a: HP:0011121 ! Abnormal skin morphology [Term] id: HP:0030082 name: Abnormal drinking behavior def: "Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption." [] comment: Note that this HPO term refers to an abnormal habit of drinking fluids but does not directly refer to an psychological disorder. synonym: "Abnormal drinking behavior" EXACT layperson [] synonym: "Abnormal drinking behaviour" EXACT uk_spelling [] xref: UMLS:C4022657 is_a: HP:0000708 ! Atypical behavior [Term] id: HP:0030084 name: Clinodactyly def: "An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe)." [PMID:16252026] synonym: "Curvature of digit" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Permanent curving of the finger" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:17268007 xref: UMLS:C0265610 xref: UMLS:C4280304 is_a: HP:0011297 ! Abnormal digit morphology [Term] id: HP:0030096 name: Abnormal muscle fiber dystrophin expression def: "A deviation from normal in the amount of dystrophin in muscle fiber tissue. Dystrophin is located at the muscle sarcolemma in a membrane-spanning protein complex that connects the cytoskeleton to the basal lamina." [HPO_CONTRIBUTOR:UToronto_htrang, PMID:11917091] synonym: "Abnormal muscle fibre dystrophin expression" EXACT uk_spelling [] xref: UMLS:C4022648 is_a: HP:0011805 ! Abnormal skeletal muscle morphology [Term] id: HP:0030114 name: Absent muscle fiber dysferlin def: "Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy." [HPO_CONTRIBUTOR:UToronto_htrang] synonym: "Absent muscle fibre dysferlin" EXACT uk_spelling [] xref: UMLS:C4022631 is_a: HP:0011805 ! Abnormal skeletal muscle morphology [Term] id: HP:0030148 name: Heart murmur def: "An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart." [https://orcid.org/0000-0002-0736-9199] comment: Heart murmurs can be appreciated by auscultation of the heart by stethoscope. Murmurs can be further categorized by intensity (6 grades), duration, timing (systolic, diastolic, or continuous), location, transmission, and quality (musical, vibratory, blowing, etc). synonym: "Cardiac murmur" EXACT [] synonym: "Cardiac murmurs" EXACT [] synonym: "Heart murmur" EXACT layperson [] synonym: "Heart murmurs" EXACT layperson [] xref: MSH:D006337 xref: SNOMEDCT_US:414786004 xref: SNOMEDCT_US:421493004 xref: SNOMEDCT_US:88610006 xref: UMLS:C0018808 is_a: HP:0011025 ! Abnormal cardiovascular system physiology property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0030151 name: Cholangitis def: "Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both." [https://orcid.org/0000-0002-0736-9199, PMID:21994886] comment: Cholangitis is characterized by biliary epithelial damage with inflammatory cell infiltration. Some cholangitis is also associated with ductal and periductal fibrosis. synonym: "Bile duct inflammation" EXACT layperson [] xref: DOID:9446 xref: ICD9:576.1 xref: MeSH:D002761 xref: MP:0003254 xref: MSH:D002761 xref: NCIt:C26718 xref: SNOMEDCT:82403002 xref: SNOMEDCT_US:82403002 xref: UMLS:C0008311 is_a: HP:0012440 ! Abnormal biliary tract morphology is_a: HP:0012649 ! Increased inflammatory response property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0030157 name: Flank pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank." [] comment: The flank is the area on the side of the abdomen between the ribs and the hip. synonym: "Flank pain" EXACT layperson [] synonym: "Kidney pain" BROAD layperson [] xref: MSH:D021501 xref: SNOMEDCT_US:247355005 xref: UMLS:C0016199 is_a: HP:0025142 ! Constitutional symptom [Term] id: HP:0030158 name: Cervical ectropion def: "Cervical ectropion occurs when eversion of the endocervix exposes columnar epithelium to the vaginal milieu" [https://orcid.org/0000-0002-0736-9199, PMID:21270291, PMID:28460993] comment: The upper cervix (endocervix) is lined by a simple columnar epithelium that contains mucous-secreting cells. In contrast, the lower cervix (ectocervix) is lined by a stratified squamous epithelium. The transition point between these two epithelia is known as the external os. Cervical ectropion is the presence of columnar cells on the ectocervix, which is normally composed of a squamous epithelium. Potential causes of ectropion include adolescent age, pregnancy, and hormonal contraceptives.5 Some clinicians believe ectropion could be a normal asymptomatic variant, whereas others believe it to be correlated with chronic cervicitis.5 The presence of the metaplastic columnar epithelium can manifest a myriad of symptoms including increased vaginal discharge, leukorrhea, postcoital bleeding, pelvic pain, recurrent cervicitis, and dyspareunia. synonym: "Cervical ectopy" EXACT [] synonym: "Cervical erosion" RELATED [] xref: MSH:D002579 xref: SNOMEDCT_US:61253004 xref: SNOMEDCT_US:79342006 xref: UMLS:C0007869 xref: UMLS:C0269189 is_a: HP:0000130 ! Abnormality of the uterus property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0030160 name: Cervicitis def: "Inflammation of the uterine cervix." [https://orcid.org/0000-0002-0736-9199, PMID:21270291] comment: Cervicitis, which most commonly presents as vaginal discharge or postcoital bleeding, can be acute or chronic, with an infectious or noninfectious etiology. synonym: "Uterine cervicitis" EXACT [] synonym: "Uterine cervix inflammation" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: ICD10:N72 xref: MSH:D002575 xref: SNOMEDCT_US:37610005 xref: UMLS:C0007860 is_a: HP:0000130 ! Abnormality of the uterus property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0030190 name: Oral motor hypotonia def: "Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affect the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior." [] xref: UMLS:C4022592 is_a: HP:0001252 ! Hypotonia [Term] id: HP:0030211 name: Slow pupillary light response def: "Reduced velocity and acceleration in the pupillary light response." [HPO_CONTRIBUTOR:UNCL_tevangelista, PMID:974056] synonym: "Sluggish pupillary reaction" EXACT [] xref: UMLS:C4022576 is_a: HP:0007686 ! Abnormal pupillary function [Term] id: HP:0030236 name: Abnormality of muscle size def: "Abnormalities of the overall muscle bulk based on clinical observation." [https://orcid.org/0000-0001-9046-3540] synonym: "Abnormality of muscle size" EXACT layperson [] xref: UMLS:C4022563 is_a: HP:0011805 ! Abnormal skeletal muscle morphology [Term] id: HP:0030242 name: Portal vein thrombosis def: "Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins." [https://orcid.org/0000-0002-0736-9199, PMID:21960890] comment: Portal vein thrombosis (PVT) can occur within the main portal vein, or it can occur in the branches of the portal vein within the liver itself. It can be an occluding thrombus or nonoccluding, with a clot present but continued blood flow through the vessel. The sequela of a long-standing PVT is cavernous formation of the portal vein, which represents bridging collaterals around the occlusion. synonym: "Blood clot in portal vein" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:17920008 xref: UMLS:C0155773 is_a: HP:0001392 ! Abnormality of the liver is_a: HP:0002597 ! Abnormality of the vasculature is_a: HP:0004936 ! Venous thrombosis property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0030276 name: obsolete Small scrotum is_obsolete: true replaced_by: HP:0000046 [Term] id: HP:0030303 name: Hypoplastic anterior commissure def: "Underdevelopment of the anterior commissure." [HPO_CONTRIBUTOR:UToronto_bgallinger] xref: UMLS:C4022524 is_a: HP:0002500 ! Abnormal cerebral white matter morphology [Term] id: HP:0030369 name: Induced vaginal delivery def: "Vaginal delivery following induction of labor, a procedure used to stimulate uterine contractions during pregnancy before labor begins on its own." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4072908 is_a: HP:0001787 ! Abnormal delivery [Term] id: HP:0030402 name: Abnormal platelet aggregation def: "An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C0541767 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues [Term] id: HP:0030436 name: Fibrofolliculoma def: "Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation." [https://orcid.org/0000-0002-0736-9199, PMID:17804924] synonym: "Fibrofolliculomas" EXACT [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:128683008 xref: SNOMEDCT_US:254699007 xref: UMLS:C0346011 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0030680 name: Abnormal cardiovascular system morphology alt_id: HP:0001632 alt_id: HP:0002564 alt_id: HP:0002565 def: "Any structural anomaly of the heart and great vessels." [] synonym: "Abnormality of cardiovascular system morphology" EXACT [] synonym: "Cardiovascular malformations" EXACT [] xref: ICD10:Q28 xref: UMLS:C4049796 is_a: HP:0001626 ! Abnormality of the cardiovascular system property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0030757 name: Tooth abscess def: "A pocket of pus located within a region of a tooth." [https://orcid.org/0000-0002-0736-9199] synonym: "Dental abscess" EXACT [] synonym: "Dentoalveolar abscess" EXACT [] xref: SNOMEDCT_US:299709002 xref: UMLS:C0518988 is_a: HP:0000164 ! Abnormality of the dentition is_a: HP:0002715 ! Abnormality of the immune system [Term] id: HP:0030766 name: Ear pain def: "Pain in the ear can be a consequence of otologic disease (primary or otogenic otalgia), or can arise from pathologic processes and structures other than the ear (secondary or referred otalgia)." [PMID:20736106] synonym: "Ear pain" EXACT layperson [] synonym: "Otalgia" EXACT [] synonym: "Pain in the ear" EXACT layperson [] xref: MSH:D004433 xref: SNOMEDCT_US:16001004 xref: SNOMEDCT_US:162356005 xref: UMLS:C0013456 is_a: EFO:0003843 ! pain is_a: HP:0000598 ! Abnormality of the ear is_a: HP:0025142 ! Constitutional symptom property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0030775 name: Modic type vertebral endplate changes def: "An abnormal magnetic resonance tomography signal from a vertebral endplate according to a widely used classification published by Dr. Michael Modic." [https://orcid.org/0000-0002-0736-9199, PMID:24162519] xref: UMLS:C4280778 is_a: HP:0000925 ! Abnormality of the vertebral column property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0030791 name: Abnormal jaw morphology def: "A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4280767 is_a: HP:0011821 ! Abnormal facial skeleton morphology [Term] id: HP:0030833 name: Neck pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck." [https://orcid.org/0000-0002-0003-6754] synonym: "Neck pain" EXACT layperson [] xref: MSH:D019547 xref: SNOMEDCT_US:81680005 xref: UMLS:C0007859 is_a: EFO:0003843 ! pain is_a: HP:0025142 ! Constitutional symptom property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0030834 name: Shoulder pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder." [https://orcid.org/0000-0002-0003-6754] synonym: "Shoulder pain" EXACT layperson [] xref: MSH:D020069 xref: SNOMEDCT_US:45326000 xref: UMLS:C0037011 is_a: EFO:0003843 ! pain is_a: HP:0025142 ! Constitutional symptom property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0030838 name: Hip pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip." [https://orcid.org/0000-0002-0003-6754] synonym: "Hip pain" EXACT layperson [] xref: SNOMEDCT_US:49218002 xref: UMLS:C0019559 is_a: EFO:0003843 ! pain is_a: HP:0025142 ! Constitutional symptom property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0030839 name: Knee pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee." [https://orcid.org/0000-0002-0003-6754] synonym: "Knee pain" EXACT layperson [] synonym: "Pain under knee cap" BROAD layperson [] xref: SNOMEDCT_US:30989003 xref: UMLS:C0231749 is_a: HP:0012514 ! Lower limb pain property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0030853 name: Heterotaxy def: "An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body." [https://orcid.org/0000-0002-0736-9199, PMID:21731561] comment: In the normal body, the internal organs are arranged in different patterns on the right and left sides, and are not mirror images of each other. Hence, if asymmetry of the thoracic and abdominal organs is the usual or normal situation, the syndrome of visceral heterotaxy includes patients with an unusual degree of symmetry of some of the thoracic and abdominal organs, and the atrial appendages within the heart. synonym: "Heterotaxia" EXACT [] xref: Fyler:0190 xref: Fyler:190 xref: MSH:D059446 xref: SNOMEDCT_US:14821001 xref: SNOMEDCT_US:24614000 xref: UMLS:C0266642 is_a: HP:0001507 ! Growth abnormality [Term] id: HP:0030878 name: Abnormality on pulmonary function testing alt_id: HP:0032340 def: "Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography." [https://orcid.org/0000-0002-0736-9199, PMID:22347750, PMID:24695507] synonym: "Abnormal pulmonary function test" EXACT [] synonym: "Abnormal spirometry test" RELATED [] xref: UMLS:C4280728 is_a: HP:0002086 ! Abnormality of the respiratory system [Term] id: HP:0030895 name: Abnormal gastrointestinal motility def: "An anomaly of the muscular contractions that propel food though the gastrointestinal tract." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal GI motility" EXACT abbreviation [] is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract [Term] id: HP:0030897 name: Decreased intestinal transit time def: "A reduction in the length of time required for food to pass through the intestines." [PMID:22206545] is_a: HP:0030895 ! Abnormal gastrointestinal motility [Term] id: HP:0030914 name: Abnormal peristalsis def: "An anomaly of the wave-like muscle contractions of the digestive tract." [https://orcid.org/0000-0002-0736-9199] is_a: HP:0002579 ! Gastrointestinal dysmotility property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0030956 name: Abnormality of cardiovascular system electrophysiology def: "An anomaly of the electrical conduction physiology of the heart." [] is_a: HP:0011025 ! Abnormal cardiovascular system physiology property_value: http://purl.org/dc/elements/1.1/date 2017-03-17T17:47:04Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0030972 name: Abnormal systemic blood pressure def: "A chronic deviation from normal pressure in the systemic arterial system." [] synonym: "Abnormal systemic BP" EXACT abbreviation [] is_a: HP:0011025 ! Abnormal cardiovascular system physiology property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2017-04-18T13:55:40Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0031030 name: Elevated carcinoma antigen 125 level def: "An increased blood concentration of carcinoma antigen 125 (CA-125). CA-125, also known as mucin 16, can exhibit increased blood levels in certain types of cancer." [PMID:16343244] synonym: "Increased plasma CA125" EXACT abbreviation [] is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T10:54:15Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0031047 name: Paraproteinemia def: "An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells." [PMID:17403946] comment: A paraprotein is a monoclonal immunoglobulin or light chain present in the blood or urine; it is produced by a clonal population of mature B cells, most commonly plasma cells. Plasma cell disorders can be considered as a spectrum of conditions ranging from monoclonal gammopathy of undetermined significance (MGUS), through asymptomatic, to symptomatic myeloma. The frequency of paraprotein-associated heavy chains is IgG, IgA, IgM, IgD (in that order). Light chains may be kappa or lambda. Paraproteins are associated with both malignant and nonmalignant conditions and may lead to complications including neuropathy and nephropathy. synonym: "Monoclonal hypergammaglobulinemia" EXACT [] is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues is_a: HP:0002715 ! Abnormality of the immune system is_a: HP:0011017 ! Abnormal cellular physiology property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T14:25:46Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0031122 name: Two-raphe bicuspid aortic valve def: "A type of bicuspid aortic valvue (BAV) characterized by the presence of two raphes that each extend from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV has developmental anlagen of three cusps, commissures, and sinuses, but two commissures are more or less malformed and obliterated, giving rise to a raphe, a fibrous ridge, which extends from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV is typically associated with a high degree of aortic stenosis." [PMID:17467434] is_a: HP:0001647 ! Bicuspid aortic valve property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T12:06:51Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0031192 name: Abnormal morphology of left ventricular trabeculae def: "Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae)." [] is_a: HP:0001627 ! Abnormal heart morphology property_value: http://purl.org/dc/elements/1.1/date 2017-06-24T14:10:09Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0031217 name: Hot flashes def: "Sudden feelings of warmth that are generally most pronounced over the face, neck and chest." [] comment: Hot flashes are most commonly due to menopause but may be observed with other conditions. is_a: HP:0025142 ! Constitutional symptom property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T11:38:24Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0031273 name: Shock def: "The state in which profound and widespread reduction of effective tissue perfusion leads first to reversible, and then if prolonged, to irreversible cellular injury." [] is_a: HP:0011025 ! Abnormal cardiovascular system physiology property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T20:50:38Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0031284 name: Flushing def: "Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin." [] comment: Flushing can occur on the face, neck and, less frequently, the upper trunk and abdomen. is_a: HP:0011121 ! Abnormal skin morphology property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T20:14:18Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0031292 name: Cutaneous abscess def: "A circumscribed area of pus or necrotic debris in the skin." [] synonym: "Skin abscess" EXACT layperson [] is_a: HP:0011123 ! Inflammatory abnormality of the skin property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T21:21:54Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0031295 name: Left atrial enlargement def: "Increase in size of the left atrium." [] synonym: "Enlarged heart left atrium" EXACT [] xref: Fyler:3011 xref: Fyler:3020 is_a: HP:0001627 ! Abnormal heart morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T21:38:04Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0031364 name: Ecchymosis def: "A purpuric lesion that is larger than 1 cm in diameter." [] synonym: "Ecchymoses" EXACT plural_form [] is_a: HP:0000979 ! Purpura property_value: http://purl.org/dc/elements/1.1/date 2017-08-29T12:32:57Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0031456 name: Ectopic pregnancy def: "A pregnancy in which the fertilized egg inserts in a location outside of the main cavity of the uterus (usually in the Fallopian tube)." [] is_a: EFO:0000352 ! clinical history property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T15:55:36Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0031458 name: Adenoiditis def: "An inflammation of the adenoid tissue." [] comment: Adenoiditis is usually caused by an infection. is_a: HP:0000366 ! Abnormality of the nose is_a: HP:0002086 ! Abnormality of the respiratory system is_a: HP:0100763 ! Abnormality of the lymphatic system property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T16:02:03Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0031481 name: Abnormal mitral valve physiology def: "Any functional anomaly of the mitral valve." [] is_a: HP:0011025 ! Abnormal cardiovascular system physiology property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T22:37:40Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0031652 name: Abnormal aortic valve physiology is_a: HP:0011025 ! Abnormal cardiovascular system physiology property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T15:20:51Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0031678 name: Atherosclerotic lesion def: "A lesion associated with atherosclerosis, a multifactorial and multipart progressive disease manifested by the focal development within the arterial wall of lesions, that ranges from teh development of a fatty streak, plaque progression, and plaque disruption. Atherosclerotic lesions demonstrate consistent morphological characteristics, which indicate that each type may stabilize temporarily or permanently and that progression to the next type may require an additional stimulus." [PMID:8172861] xref: MeSH:D058226 xref: MP:0005338 xref: NCIt:C78739 xref: PMID:8172861 is_a: HP:0002597 ! Abnormality of the vasculature is_a: HP:0030680 ! Abnormal cardiovascular system morphology property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T17:19:49Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0031685 name: Abnormal stool composition alt_id: HP:0032483 def: "Abnormal level of metabolite or other abnormal analyte result in a stool test." [] synonym: "Abnormal faecal test result" RELATED uk_spelling [] synonym: "Abnormal faeces composition" EXACT uk_spelling [] synonym: "Abnormal fecal test result" RELATED [] synonym: "Abnormal feces composition" EXACT [] is_a: HP:0001939 ! Abnormality of metabolism/homeostasis is_a: HP:0025031 ! Abnormality of the digestive system property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T21:04:26Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0031703 name: Abnormal ear morphology def: "Any structural anomaly of the ear." [] xref: Fyler:4867 is_a: HP:0000598 ! Abnormality of the ear property_value: http://purl.org/dc/elements/1.1/date 2017-12-18T00:20:14Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0031760 name: Non-accomodative esotropia def: "A form of esotropia in which the angle of deviation is not affected by accommodative effort." [https://orcid.org/0000-0003-0986-4123] xref: PMID:30098192 is_a: EFO:0003966 ! eye disease is_a: HP:0000565 ! Esotropia property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:46:28Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0031801 name: Vocal cord dysfunction def: "Any functional anomaly of the vocal cord." [] is_a: HP:0000118 ! Phenotypic abnormality property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2018-03-04T12:07:39Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0031826 name: Abnormal reflex def: "Any anomaly of a reflex, i.e., of an automatic response mediated by the nervous system (a reflex does not need the intervention of conscious thought to occur)." [] is_a: HP:0100022 ! Abnormality of movement property_value: http://purl.org/dc/elements/1.1/date 2018-05-02T01:05:40Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0031844 name: Euphoria def: "Euphoria is a feeling of intense joy, happiness, excitement, or elation that surpasses what would typically be anticipated in a given situation." [] synonym: "Euphoric mood" EXACT [] is_a: HP:0100851 ! Abnormal emotion property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T15:29:11Z xsd:dateTime property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-1111-7357 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7954-5235 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2897-0458 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4298-5074 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4618-6544 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0031860 name: Abnormal heart rate variability def: "Any abnormality in the variability of the time interval between successive heartbeats." [PMID:8598068] is_a: HP:0030956 ! Abnormality of cardiovascular system electrophysiology property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T21:02:07Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0031987 name: Diminished ability to concentrate def: "Being unable to focus one's attention or mental effort on a particular object or activity." [PMID:26386541] synonym: "Concentration problems" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Lack of concentration" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Poor concentration" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] is_a: HP:0100543 ! Cognitive impairment property_value: http://purl.org/dc/elements/1.1/date 2018-07-09T01:48:46Z xsd:dateTime property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4422-1708 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0031988 name: obsolete Muscle spasm xref: NCIt:C50656 xref: Wikipedia:Spasm is_obsolete: true replaced_by: HP:0003394 [Term] id: HP:0032016 name: Abnormal sputum def: "Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin." [] synonym: "Abnormal sputum morphology" EXACT [] is_a: HP:0002086 ! Abnormality of the respiratory system property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2018-08-25T12:36:36Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0032072 name: Popliteal synovial cyst def: "A fluid-filled mass that is a distention of a preexisting bursa in the popliteal fossa, most commonly the gastrocnemio-semimembranosus bursa. This bursa is unique in that it communicates with the knee joint, unlike other periarticular bursae, via an opening in the joint capsule posterior to the medial femoral condyle." [PMID:25102502, PMID:26137182] comment: Popliteal synovial cysts, also known as Baker's cysts, are commonly found in association with intraarticular knee disorders, such as osteoarthritis and meniscus tears. Histologically, the cyst walls resemble synovial tissue with fibrosis, and chronic nonspecific inflammation may be present. Osteocartilaginous loose bodies may also be found within the cyst, even if they are not seen in the knee joint. Baker cysts can be a source of posterior knee pain that persists despite surgical treatment of the intraarticular lesion, and they are routinely discovered on magnetic resonance imaging scans of the symptomatic knee. Symptoms related to a popliteal cyst origin are infrequent and may be related to size. synonym: "Baker's cyst" EXACT [] is_a: HP:0002814 ! Abnormality of the lower limb is_a: HP:0011842 ! Abnormal skeletal morphology property_value: http://purl.org/dc/elements/1.1/date 2018-10-13T11:41:38Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0032141 name: Precordial pain def: "A type of chest pain that arises in the or under the left breast and often described as throbbing, stabbing, or burning, and lasting hours or longer. The pain may arise with or after effort, and may spread to the left arm or left side of the neck." [PMID:18122452] is_a: HP:0100749 ! Chest pain property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T15:23:39Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0032153 name: Joint subluxation def: "A partial dislocation of a joint." [] is_a: HP:0011842 ! Abnormal skeletal morphology property_value: http://purl.org/dc/elements/1.1/date 2018-12-02T13:55:17Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0032155 name: Abdominal cramps def: "A type of abdominal pain characterized by a feeling of contractions and typically fluctuating in intensity." [] is_a: HP:0002027 ! Abdominal pain property_value: http://purl.org/dc/elements/1.1/date 2018-12-02T14:21:11Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0032156 name: Skin detachment def: "Loss of sections of skin either spontaneously or after gentle handling." [HPO_CONTRIBUTOR:RGD_gthayman, PMID:27656858] synonym: "Detached skin" EXACT [] synonym: "Epidermal detachment" EXACT [] synonym: "Skin sloughing" EXACT [] is_a: HP:0011121 ! Abnormal skin morphology property_value: http://purl.org/dc/elements/1.1/date 2018-12-02T15:19:00Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0032190 name: Abnormal meniscus morphology def: "Abnormal structure of the meniscus of the knee, two crescent shape fibrocartilaginous pads that disperse the weight of the body and reduce friction of the knee joint during movement." [PMID:26488288] comment: The meniscus is a fibrocartilaginous structure of the knee joint that enables the even distribution of a weight-bearing load across the articular surfaces. The menisci bear between 40 to 70% of the load across the knee, and the rest of the load is transmitted directly to the articular cartilage. is_a: HP:0002814 ! Abnormality of the lower limb is_a: HP:0011842 ! Abnormal skeletal morphology property_value: http://purl.org/dc/elements/1.1/date 2019-01-15T11:29:05Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0032252 name: Granuloma def: "A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis." [PMID:10908370, PMID:11168676, PMID:937513] comment: Granulomas vary considerably in their degree of complexity, physical size and organization. Not surprisingly, their classification has attracted much attention, and a numbers of schemes have been described. The cornerstone of the granulomatous response, however, is the predominant involvement of mononuclear phagocytes. As granulomas develop, tissue-resident, as well as inflammatory mononuclear phagocytes become intimately acquainted, and these cells may develop highly differentiated epithelioid cell characteristics. In many cases, elegant multinucleate populations can be seen, distinct from the syncytia formed after viral infection as evident by their extended life-span. Accumulating lymphocytes, mainly T cells, contribute to the developing microarchitecture of the granuloma, often with characteristic patterns of subset organization relative to the core of mononuclear phagocytes and to each other. B lymphocytes, plasma cells, NK cells and neutrophils may all be present, though a relative paucity of neutrophils delineates these sites of inflammation from those associated with necrosis. At its extreme, the granuloma may serve as the focus for irreversible fibrotic reactions, but, even in less dramatic cases, a substantive degree of local tissue remodelling occurs. is_a: HP:0002715 ! Abnormality of the immune system property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T16:44:42Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0032263 name: Increased blood pressure def: "Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension." [PMID:9137951] synonym: "Increased BP" EXACT abbreviation [] is_a: HP:0030972 ! Abnormal systemic blood pressure property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T20:07:59Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0032310 name: Granulocytosis def: "An increased count of granulocytes in the peripheral blood circulation." [] is_a: HP:0001881 ! Abnormal leukocyte morphology property_value: http://purl.org/dc/elements/1.1/date 2019-02-14T10:57:40Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0032408 name: Breast mass def: "A breast lump is any discrete mass in a breast noticed by the patient, significant other, or physician." [PMID:15887452] comment: The word mass is often used interchangeably with tumor, which derives from the Latin word tumor that originally meant any form of swelling. A small mass may be asymptomatic. Larger masses may cause pain if they press on a nerve or organ, or may lead to other manifestations depending on their location. In general, the finding of a mass will lead to a workup to determine the nature of the mass. The differential diagnosis of a breast mass includes fibrocystic disease, fibroadenomas, breast cancer, mammary duct ectasia, and intraductal papilloma. synonym: "Breast lump" EXACT [] is_a: HP:0000769 ! Abnormality of the breast property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T20:59:33Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0032547 name: Low intraocular pressure def: "An abnormal decrease of the pressure within the eye." [PMID:26253854] comment: Ocular hypotony is defined statistically as an intraocular pressure (IOP) of less than 6.5 mmHg, three standard deviations below the mean. Clinically significant hypotony is when the IOP is so low that there is resultant visual loss. Hypotony has also been described as low pressure in an individual eye, leading to functional changes and structural changes. synonym: "Ocular hypotony" EXACT [] is_a: HP:0000478 ! Abnormality of the eye property_value: http://purl.org/dc/elements/1.1/date 2019-06-12T10:37:45Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0032565 name: Vaginal mucosal ulceration comment: A breach of the continuity of the mucous membrane of the vagina caused by sloughing out of inflamed necrotic tissue, usually associated with eschars (slough or piece of dead tissue) and with violaceous to erythematous borders. {xref="PMID:18427055"} is_a: HP:0000008 ! Abnormal morphology of female internal genitalia property_value: http://purl.org/dc/elements/1.1/date 2019-06-19T10:17:59Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0033006 name: Diffuse alveolar damage def: "Diffuse alveolar damage (DAD) describes a comon histologic injury pattern of the lung. The early stages are characterized by epithelial cell necrosis and sloughing, fibrous exsudate, edema, and hyaline membranes made of surfactant and proteins, filling the alveoli. This results in impaired gas exchange. In later stages, type II cells and myofibroblasts proliferate within the interstitium and airspaces. The corresponding clinical entity is acute respiratory distress syndrome (ARDS). DAD may result from pulmonary drug toxicity, occurs in immunosuppressed, severe viral infections, acute interstial pneumonitis and crack cocaine inhalation." [https://orcid.org/0000-0003-0113-912X, PMID:28570160, PMID:32364264] is_a: HP:0002088 ! Abnormal lung morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0033454 name: Tube feeding def: "Feeding problem necessitating food and nutrient delivery via a tube." [PMID:25874832, PMID:28044031] is_a: HP:0011968 ! Feeding difficulties property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/elements/1.1/date 2021-01-09T21:48:41Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0034241 name: Prenatal death def: "Death of a fetus in the uterus." [] synonym: "Death before birth" EXACT layperson [] synonym: "Intrauterine death" EXACT [] is_a: EFO:0005056 ! age at death property_value: http://purl.org/dc/elements/1.1/date 2022-04-10T17:51:32Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0040019 name: Finger clinodactyly synonym: "Curvature of finger" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:17268007 xref: UMLS:C0265610 xref: UMLS:C4280298 is_a: HP:0001167 ! Abnormal finger morphology is_a: HP:0030084 ! Clinodactyly property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5316-1399 [Term] id: HP:0040064 name: Abnormality of limbs synonym: "Abnormal limbs" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of limbs" EXACT layperson [] synonym: "Dysmelia" RELATED [https://orcid.org/0000-0002-0736-9199] synonym: "Limb anomaly" EXACT [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:445144002 xref: UMLS:C0239337 xref: UMLS:C4073131 is_a: HP:0000118 ! Phenotypic abnormality property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5316-1399 [Term] id: HP:0040070 name: Abnormal upper limb bone morphology synonym: "Abnormal morphology of bones of the upper limbs" EXACT [] synonym: "Abnormal shape of bones of the upper limbs" EXACT layperson [] synonym: "Abnormality of upper limb bone" EXACT layperson [] xref: UMLS:C4022454 xref: UMLS:C4022458 is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0011842 ! Abnormal skeletal morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5316-1399 [Term] id: HP:0040079 name: Irregular dentition synonym: "Irregular teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1856765 is_a: HP:0000164 ! Abnormality of the dentition property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5316-1399 [Term] id: HP:0040082 name: Happy demeanor def: "A conspicuously happy disposition, characterized by frequent smiling and laughing, which may be contextually inappropriate or unrelated to the situation." [] synonym: "Happy demeanor" EXACT layperson [] synonym: "Happy demeanour" EXACT uk_spelling [] xref: UMLS:C1856115 is_a: HP:0000708 ! Atypical behavior property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-1111-7357 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7954-5235 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2897-0458 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4298-5074 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4618-6544 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5316-1399 [Term] id: HP:0040083 name: obsolete Toe walking def: "Toe walking is a pattern of walking in which a person walks on balls of his or her feet, with no contact between the heels and ground. Toe-walking is common in children who are learning to walk, but most children outgrow it around the age of two years. This term refers to the persistance of toe-walking beyond the usual age." [PMID:26709689] is_obsolete: true replaced_by: HP:0030051 [Term] id: HP:0040151 name: Epiblepharon of lower lid xref: MSH:C565051 xref: UMLS:C1851583 is_a: HP:0000271 ! Abnormality of the face property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5316-1399 [Term] id: HP:0040165 name: Periostitis def: "Inflammation of the periosteum" [] synonym: "Periostalgia" EXACT [] xref: MSH:D010522 xref: SNOMEDCT_US:41910004 xref: UMLS:C0031111 is_a: HP:0011842 ! Abnormal skeletal morphology [Term] id: HP:0040175 name: Platelet-activating factor acetylhydrolase deficiency def: "Reduced level of platelet-activating factor acetylhydrolase." [] xref: MSH:C566640 xref: UMLS:C3280315 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0040183 name: Encopresis synonym: "Stool holding" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Stool soiling" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:302690004 xref: UMLS:C2945606 is_a: HP:0025031 ! Abnormality of the digestive system is_a: HP:0025142 ! Constitutional symptom [Term] id: HP:0040185 name: Macrothrombocytopenia synonym: "Macrothrombozytopenia" EXACT [] xref: UMLS:C2751260 is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0040187 name: Neonatal sepsis def: "Systemic inflammatory response to infection in newborn babies." [PMID:4067741] xref: MSH:D000071074 xref: SNOMEDCT_US:206376005 xref: UMLS:C0456103 is_a: HP:0100806 ! Sepsis property_value: gwas:trait "true" xsd:boolean [Term] id: HP:0040188 name: Osteochondrosis def: "Abnormal growth ossification centers in children. Initially a degeneration/ necrosis followed by regeneration or recalcification." [] xref: MSH:D055034 xref: SNOMEDCT_US:19579005 xref: UMLS:C0029429 is_a: HP:0011842 ! Abnormal skeletal morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5316-1399 [Term] id: HP:0040216 name: Hypoinsulinemia def: "A decreased concentration of insulin in the blood." [] xref: UMLS:C2748055 is_a: HP:0003117 ! Abnormal circulating hormone concentration [Term] id: HP:0040223 name: Pulmonary hemorrhage def: "Pulmonary hemorrhage is a bleeding within the lungs. Older children and adults may spit blood or bloody sputum. Neonates, infants and young children usually do not spit up blood. Anemia, pulmonary infiltrates, increasingling bloody return on BAL and the presence of hemosiderin-laden macrophages in broncho-alveolar lavage (BAL) fluid or lung biopsy can diagnose lung bleeding. Alveolar macrophages contain phagocytosed red blood cells and stain positive for hemosiderin, a product of hemoglobin degradation, after about 48-72 hours following pulmonary hemorraghe. Previous or recurrent bleeding can thus be distinguished from fresh events. A differentiation into local or diffuse is of importance. Also differentiate if pulmonary hemorrhage is due to a primary lung disorder or a manifestation of a systemic disease." [PMID:16473816] synonym: "Intrapulmonary haemorrhage" EXACT uk_spelling [] synonym: "Intrapulmonary hemorrhage" EXACT [] synonym: "Pulmonary haemorrhage" EXACT uk_spelling [] xref: UMLS:C4280720 is_a: HP:0001892 ! Abnormal bleeding is_a: HP:0002088 ! Abnormal lung morphology is_a: HP:0011028 ! Abnormality of blood circulation is_a: MP:0001914 ! hemorrhage [Term] id: HP:0040233 name: Factor XIII subunit A deficiency def: "Deficiency of factor XIII subunit A, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot." [] comment: Measurement of subunit A or B can be performed by Elisa kits. Adding the more granular term would facilitate mutation analysis as both subunits are encoded by different genes. This is not always performed in the diagnostic workup so 'Reduced factor XIII activity' would sufice. This term has been requested and created by members of the BRIDGE consortium synonym: "Reduced factor XIII, subunit A" EXACT [] xref: MSH:C567691 xref: UMLS:C2750514 is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0040269 name: Blocked Eustachian tube synonym: "Obstruction of Eustachian tube" EXACT [] xref: SNOMEDCT_US:48145001 xref: UMLS:C0149508 is_a: HP:0031703 ! Abnormal ear morphology [Term] id: HP:0040270 name: Impaired glucose tolerance def: "An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased glucose tolerance" EXACT [] synonym: "Glucose tolerance decreased" EXACT [] xref: MP:0005291 xref: UMLS:C0151671 is_a: HP:0001952 ! Glucose intolerance [Term] id: HP:0045046 name: Reduced insulin like growth factor binding protein acid labile subunit concentration def: "An abnormally decreased concentration of insulin like growth factor binding protein acid labile subunit level in the blood circulation." [] comment: Insulin-like growth factor binding protein, acid labile subunit, also known as IGFALS, is a protein which in humans is encoded by the IGFALS gene. {xref="wikipedia"} synonym: "Acid-labile subunit deficiency" EXACT [] synonym: "Decreased levels of acid labile subunit" EXACT [] synonym: "Reduced insulin like growth factor binding protein acid labile subunit level" EXACT [] xref: UMLS:C3900122 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0045059 name: Hyperkeratotic papule def: "A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically)." [PMID:3632007] xref: UMLS:C2047516 is_a: HP:0011368 ! Epidermal thickening [Term] id: HP:0045075 name: Sparse eyebrow alt_id: HP:0000535 alt_id: HP:0002222 alt_id: HP:0002554 alt_id: HP:0004520 alt_id: HP:0004551 def: "Decreased density/number of eyebrow hairs." [https://orcid.org/0000-0002-5316-1399, PMID:19125427] comment: Sparseness can be regional (medial, central, lateral) or total. subset: hposlim_core synonym: "Hypotrichosis of eyebrow" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Sparse eyebrow" EXACT layperson [] synonym: "Sparse eyebrows" EXACT layperson [] is_a: HP:0000271 ! Abnormality of the face is_a: HP:0001574 ! Abnormality of the integument [Term] id: HP:0100014 name: Epiretinal membrane def: "An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy." [https://orcid.org/0009-0006-4530-3154] synonym: "Epiretinal membranes" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Macular pucker" EXACT [] synonym: "Premacular fibrosis" EXACT [] xref: MSH:D019773 xref: SNOMEDCT_US:133853005 xref: SNOMEDCT_US:367649002 xref: UMLS:C0339543 is_a: HP:0001103 ! Abnormal macular morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-05-14T09:53:27Z [Term] id: HP:0100022 name: Abnormality of movement alt_id: HP:0001294 def: "An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements." [https://orcid.org/0000-0002-0736-9199] comment: Movement disorders are characterized by the phenotypic abnormalities including abnormal involuntary movements, akathisia, akinesia, athetosis, ataxia, ballismus, bradykinesia, chorea, dyskinesia, dystonia, and myoclonus tics, tremor, spasms, and stereotypy. synonym: "Abnormality of movement" EXACT layperson [] synonym: "Movement disorder" EXACT layperson [] synonym: "Unusual movement" EXACT layperson [] xref: ICD10:R25 xref: MSH:D009069 xref: SNOMEDCT_US:60342002 xref: UMLS:C0026650 is_a: HP:0012638 ! Abnormal nervous system physiology property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-05-28T11:48:50Z [Term] id: HP:0100023 name: Recurrent hand flapping def: "A type of repetitive behavior in which the affected individual repeatedly waves the hands and/or arms rhythmically." [] xref: UMLS:C4022387 is_a: HP:0000733 ! Abnormal repetitive mannerisms property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4422-1708 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389 property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-05-28T12:10:09Z [Term] id: HP:0100033 name: Tics def: "Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppressible and are usually associated with awareness of an urge to perform the movement." [PMID:20589866] comment: Tics can be invisible to the observer, such as abdominal tensing or toe crunching. Common motor and phonic tics are, respectively, eye blinking and throat clearing. Movements of other movement disorders (for example, chorea, dystonia, myoclonus) must be distinguished from tics. Other conditions, such as autism and stereotypic movement disorder, also include movements which may be confused with tics. Tics must also be distinguished from the compulsions of OCD and from seizure activity. Tics may increase as a result of stress, fatigue, boredom, or high-energy emotions, which can include negative emotions, such as anxiety, but positive emotions as well, such as excitement or anticipation. Relaxation may result in a tic increase (for instance, watching television or using a computer), while concentration on an absorbing activity often leads to a decrease in tics. synonym: "Tic disorder" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] xref: UMLS:C2169806 is_a: HP:0000708 ! Atypical behavior property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4422-1708 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389 property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-06-10T12:10:29Z [Term] id: HP:0100249 name: Calcification of muscles def: "Deposition of calcium salts in muscle tissue." [https://orcid.org/0000-0002-0736-9199] synonym: "Skeletal muscle calcinosis" EXACT [] xref: ICD10:M61 xref: SNOMEDCT_US:446993003 xref: UMLS:C2960760 is_a: HP:0000924 ! Abnormality of the skeletal system is_a: HP:0011805 ! Abnormal skeletal muscle morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-07-09T12:32:25Z [Term] id: HP:0100256 name: Senile plaques def: "Senile plaques are extracellular deposits of amyloid in the gray matter of the brain." [https://orcid.org/0009-0006-4530-3154] comment: Senile plaques can be found in human and animal brains. From an age of 60 years (10%) to an age of 80 years (60%) the proportion of people with plaques increases approximately linearly. A small number of plaques can be due to the physiological process of aging. Women are slightly more likely to have plaques than males. The plaques occur commonly in the amygdoid nucleus and the sulci of the cortex of brain. The deposits are associated with degenerative neural structures and an abundance of microglia and astrocytes. Large numbers of senile plaques and neurofibrillary tangles are characteristic features of Alzheimers disease, and some of the abnormal neurites in senile plaques are composed primarily of paired helical filaments, a component of neurofibrillary tangles. In Alzheimer's disease they are primarily composed of amyloid beta peptides. These polypeptides tend to aggregate and are believed to be neurotoxic. synonym: "Braindruse" EXACT [] synonym: "Neuritic plaques" EXACT [] synonym: "Senile druse" EXACT [] xref: MSH:D058225 xref: SNOMEDCT_US:38551001 xref: UMLS:C0333463 is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-07-15T02:43:44Z [Term] id: HP:0100257 name: Ectrodactyly def: "A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet." [https://orcid.org/0009-0006-4530-3154] comment: Hands and feet in one individual might be similarly affected or very diverse and the phenotype is very variable even within families. Penetrance is reduced and some idnividuals have been observed presenting only with unilateral smaller 2nd toe which may be overlooked till a much more severly affected family member is seen. subset: hposlim_core synonym: "Cleft hand" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Lobster claw hand" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: MSH:C574275 xref: SNOMEDCT_US:13624003 xref: SNOMEDCT_US:81208006 xref: UMLS:C0265554 is_a: HP:0011842 ! Abnormal skeletal morphology is_a: HP:0040064 ! Abnormality of limbs property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-07-15T03:56:58Z [Term] id: HP:0100281 name: Chronic colitis def: "A chronic inflammatory disease of the large intestine (colon, cecum and rectum)." [https://orcid.org/0009-0006-4530-3154] xref: SNOMEDCT_US:54597004 xref: UMLS:C0267375 is_a: HP:0002037 ! Inflammation of the large intestine property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-08-10T09:26:33Z [Term] id: HP:0100309 name: Subdural hemorrhage def: "Hemorrhage occurring between the dura mater and the arachnoid mater." [https://orcid.org/0009-0006-4530-3154] comment: Usually resulting from tears in veins that cross the subdural space, subdural hemorrhage may cause an increase in intracranial pressure, which can cause compression of and damage to delicate brain tissue. Subdural hematomas are often life-threatening when acute, but chronic subdural hematomas are usually not deadly if treated. synonym: "Subdural haematoma" EXACT [] synonym: "Subdural haemorrhage" EXACT uk_spelling [] synonym: "Subdural hematoma" EXACT [] xref: MSH:D006408 xref: SNOMEDCT_US:35486000 xref: SNOMEDCT_US:95453001 xref: UMLS:C0018946 is_a: EFO:0000551 ! intracranial hemorrhage is_a: HP:0001892 ! Abnormal bleeding is_a: HP:0011028 ! Abnormality of blood circulation is_a: HP:0100659 ! Abnormal cerebral vascular morphology property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-08-10T03:01:08Z [Term] id: HP:0100501 name: Recurrent bronchiolitis def: "An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4015136 is_a: HP:0002205 ! Recurrent respiratory infections property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-12-17T05:58:08Z [Term] id: HP:0100504 name: Low levels of vitamin B2 def: "A reduced concentration of vitamin B2." [] synonym: "Riboflavin deficiency" EXACT [] synonym: "Vitamin B2 deficiency" EXACT layperson [] xref: MSH:D012257 xref: SNOMEDCT_US:20307000 xref: UMLS:C0035528 is_a: HP:0100508 ! Abnormality of vitamin metabolism property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-12-17T06:13:04Z [Term] id: HP:0100508 name: Abnormality of vitamin metabolism def: "An anomaly in the metabolism of a vitamin." [https://orcid.org/0000-0002-0736-9199] comment: Vitamins are organic substances that are essential in minute quantities and not produced within the body, instead being present in natural foodstuffs. Vitamins act as coenzymes or precursors of coenzymes in the regulation of metabolic processes. synonym: "Abnormality of vitamin metabolism" EXACT layperson [] xref: UMLS:C4022036 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-12-17T06:17:22Z [Term] id: HP:0100523 name: Liver abscess alt_id: HP:0001400 def: "A circumscribed area of pus or necrotic debris in the liver." [https://orcid.org/0000-0002-0736-9199] synonym: "Hepatic abscess" EXACT [] synonym: "Liver abscess" EXACT layperson [] xref: MSH:D008100 xref: SNOMEDCT_US:27916005 xref: UMLS:C0023885 is_a: HP:0001392 ! Abnormality of the liver is_a: HP:0002715 ! Abnormality of the immune system property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-12-20T11:13:14Z [Term] id: HP:0100529 name: Abnormal blood phosphate concentration def: "An abnormality of phosphate homeostasis or concentration in the body." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of phosphate homeostasis" EXACT [] xref: UMLS:C4022032 is_a: HP:0003111 ! Abnormal blood ion concentration property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-12-20T11:58:32Z [Term] id: HP:0100534 name: Episcleritis def: "Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye." [https://orcid.org/0000-0002-0736-9199] comment: In contrast to conjunctivitis, with episcleritis the inflammation is generally limited to isolated parts of the sclera and is not diffuse.One can observe dilated episcleral blood vessels between regions of white sclera. subset: hposlim_core synonym: "Inflammation of the thin layer on top of the white part of eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D015423 xref: SNOMEDCT_US:815008 xref: UMLS:C0014583 is_a: HP:0000478 ! Abnormality of the eye is_a: HP:0012649 ! Increased inflammatory response property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-12-20T05:48:22Z [Term] id: HP:0100537 name: Fasciitis def: "Inflammation of fascia, the tissue under the skin and over the muscle." [https://orcid.org/0000-0002-0736-9199] synonym: "Inflammation of the fascia" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MeSH:D005208 xref: MSH:D005208 xref: NCIt:C50559 xref: SNOMEDCT_US:36948007 xref: UMLS:C0015645 is_a: HP:0003549 ! Abnormality of connective tissue is_a: HP:0012649 ! Increased inflammatory response is_a: MP:0001845 ! inflammation property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-12-20T05:59:18Z [Term] id: HP:0100543 name: Cognitive impairment alt_id: HP:0002128 alt_id: HP:0002129 alt_id: HP:0002302 alt_id: HP:0002337 alt_id: HP:0002441 alt_id: HP:0006972 alt_id: HP:0006998 alt_id: HP:0007211 def: "Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering." [] comment: An individual with cognitive impairment may experience difficulties in remembering, learning new things, concentrating, or making decisions. synonym: "Abnormality of cognition" EXACT layperson [] synonym: "Cognitive abnormality" EXACT layperson [] synonym: "Cognitive defects" EXACT layperson [] synonym: "Cognitive deficits" EXACT layperson [] synonym: "Cognitive impairment" EXACT layperson [] synonym: "Intellectual impairment" EXACT layperson [] xref: ICD10:R41 xref: ICD10:R54 xref: MSH:D060825 xref: SNOMEDCT_US:386806002 xref: UMLS:C0338656 xref: UMLS:C0683322 is_a: HP:0011446 ! Abnormality of mental function property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-12-20T06:50:32Z [Term] id: HP:0100545 name: Arterial stenosis def: "Narrowing or constriction of the inner surface (lumen) of an artery." [https://orcid.org/0000-0002-0736-9199] synonym: "Narrowing of an artery" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:68109007 xref: UMLS:C0038449 is_a: HP:0002597 ! Abnormality of the vasculature is_a: HP:0030680 ! Abnormal cardiovascular system morphology property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-12-21T01:30:07Z [Term] id: HP:0100550 name: Tendon rupture def: "Breakage (tear) of a tendon." [https://orcid.org/0000-0002-0736-9199, PMID:27047816] comment: Tendon rupture is usually painful,and accompanied by swelling, inability to move, and bunching up of the muscle normally attached to the tendon. synonym: "Rupture of tendons" EXACT layperson [] synonym: "Ruptured tendon" EXACT layperson [] synonym: "Tendon rupture" EXACT layperson [] synonym: "Tendon/muscle rupture" EXACT [] xref: SNOMEDCT_US:415749005 xref: UMLS:C0151937 is_a: HP:0011842 ! Abnormal skeletal morphology property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-12-21T02:58:13Z [Term] id: HP:0100559 name: Lower limb asymmetry def: "A difference in length or diameter between the left and right leg." [https://orcid.org/0000-0002-0736-9199] synonym: "Left and right leg differ in length or width" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Leg length discrepancy" RELATED layperson [] xref: MSH:D007870 xref: SNOMEDCT_US:45939007 xref: UMLS:C0023221 is_a: HP:0001507 ! Growth abnormality is_a: HP:0002814 ! Abnormality of the lower limb property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-12-21T04:04:27Z [Term] id: HP:0100578 name: Lipoatrophy def: "Localized loss of fat tissue." [https://orcid.org/0009-0006-4530-3154] comment: This may occur as a result of subcutanous injections of insulin in the treatment of diabetes, from the use of human growth hormone or from subcutanous injections of Copaxone used for the treatment of multiple sclerosis. In the latter case, an injection may produce a small dent at the injection site. Lipoatrophy is also an adverse drug reaction that is associated with some antiretroviral drugs. subset: hposlim_core synonym: "Atrophy of fat" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Loss of fat tissue in localised area" EXACT uk_spelling [] synonym: "Loss of fat tissue in localized area" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MEDDRA:10024604 "Lipoatrophy" xref: SNOMEDCT_US:248315005 xref: UMLS:C1280433 is_a: HP:0009124 ! Abnormal adipose tissue morphology property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-12-27T12:55:33Z [Term] id: HP:0100582 name: Nasal polyposis alt_id: HP:0000462 def: "Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis." [https://orcid.org/0009-0006-4530-3154, PMID:18728843] comment: Nasal polyps (NP) are benign lesions arising from the mucosa of the nasal sinuses (commonly at the outflow tract of one or more of the sinuses) or from the mucosa of the nasal cavity. The main presenting symptom of NP is nasal obstruction which is constant but can vary depending on the site and size of the polyps. Sufferers will also frequently complain of watery rhinorrhea and postnasal drip. Anosmia or hyposmia with an ensuing alteration in taste are also characteristic symptoms of NP. synonym: "Nasal polyps" EXACT [] synonym: "Polyposis nasi" EXACT [] synonym: "Polyps of nose" EXACT [https://orcid.org/0000-0001-5889-4463] xref: MSH:D009298 xref: SNOMEDCT_US:52756005 xref: UMLS:C0027430 is_a: HP:0000366 ! Abnormality of the nose property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-12-27T02:47:15Z [Term] id: HP:0100585 name: Telangiectasia of the skin alt_id: HP:0007561 def: "Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions." [https://orcid.org/0000-0002-0736-9199] synonym: "Teleangiectasia of the skin" EXACT [] xref: UMLS:C4022018 is_a: HP:0011276 ! Vascular skin abnormality property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-12-27T03:06:35Z [Term] id: HP:0100595 name: Camptocormia def: "An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders." [https://orcid.org/0009-0006-4530-3154] subset: hposlim_core xref: MSH:C537968 xref: SNOMEDCT_US:13534001 xref: UMLS:C0264162 is_a: HP:0000925 ! Abnormality of the vertebral column property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-12-27T04:55:11Z [Term] id: HP:0100601 name: Eclampsia def: "An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders." [https://orcid.org/0009-0006-4530-3154] xref: MSH:D004461 xref: SNOMEDCT_US:15938005 xref: UMLS:C0013537 is_a: EFO:0000352 ! clinical history property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-12-27T05:26:33Z [Term] id: HP:0100607 name: Dysmenorrhea def: "Pain during menstruation that interferes with daily activities." [PMID:15686299] synonym: "Painful menstruation" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D004412 xref: SNOMEDCT_US:266599000 xref: SNOMEDCT_US:289900009 xref: SNOMEDCT_US:431416001 xref: UMLS:C0013390 is_a: HP:0000078 ! Abnormality of the genital system property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-12-27T06:13:30Z [Term] id: HP:0100608 name: Metrorrhagia def: "Bleeding at irregular intervals." [PMID:22594864] synonym: "Abnormal uterus bleeding" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Intermenstrual bleeding" EXACT [https://orcid.org/0000-0001-5208-3432, PMID:28499529] synonym: "Menstrual spotting" EXACT [https://orcid.org/0000-0001-5208-3432, PMID:28499529] xref: MSH:D008796 xref: SNOMEDCT_US:19155002 xref: SNOMEDCT_US:237130006 xref: SNOMEDCT_US:64996003 xref: UMLS:C0025874 is_a: HP:0000078 ! Abnormality of the genital system property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-12-27T06:14:01Z [Term] id: HP:0100613 name: Death in early adulthood def: "Death between the age of 16 and 40 years." [https://orcid.org/0000-0002-0736-9199] synonym: "Death in early adulthood" EXACT layperson [] xref: UMLS:C4022012 is_a: EFO:0005056 ! age at death property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-12-28T11:12:21Z [Term] id: HP:0100633 name: Esophagitis def: "Inflammation of the esophagus." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Inflammation of the esophagus" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Inflammation of the oesophagus" EXACT uk_spelling [] synonym: "Oesophagitis" EXACT [] xref: ICD10:K20 xref: MedDRA:10030216 xref: MEDDRA:10030216 "Oesophagitis" xref: MeSH:D004941 xref: MSH:D004941 xref: SNOMEDCT:16761005 xref: SNOMEDCT_US:16761005 xref: UMLS:C0014868 is_a: EFO:0009544 ! esophageal disease is_a: HP:0002031 ! Abnormal esophagus morphology is_a: HP:0004386 ! Gastrointestinal inflammation property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-12-29T05:09:23Z [Term] id: HP:0100659 name: Abnormal cerebral vascular morphology def: "An anomaly of the cerebral blood vessels." [PMID:30335330] synonym: "Abnormality of the cerebral blood vessels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the cerebral vasculature" EXACT [] xref: UMLS:C4022001 is_a: HP:0002597 ! Abnormality of the vasculature is_a: HP:0012443 ! Abnormal brain morphology is_a: HP:0030680 ! Abnormal cardiovascular system morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-12-30T11:39:15Z [Term] id: HP:0100698 name: Subcutaneous neurofibroma def: "A neurofibroma (benign peripheral nerve sheath tumor) localized in the subcutis (subcutaneous region)." [https://orcid.org/0009-0006-4530-3154] xref: SNOMEDCT_US:425327002 xref: UMLS:C1827970 is_a: EFO:0000622 ! neurofibroma is_a: HP:0000707 ! Abnormality of the nervous system is_a: HP:0000951 ! Abnormality of the skin property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2011-03-29T12:03:47Z [Term] id: HP:0100699 name: Scarring def: "A scar refers to a lesion in which wound, burn, or sore has not healed completely and fibrous connective tissue has developed." [] synonym: "Scar tissue" RELATED layperson [] synonym: "Scarring" EXACT layperson [] xref: MSH:D002921 xref: SNOMEDCT_US:48677004 xref: UMLS:C0008767 is_a: HP:0003549 ! Abnormality of connective tissue property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5316-1399 creation_date: 2011-03-29T06:39:56Z [Term] id: HP:0100704 name: Cerebral visual impairment alt_id: HP:0000595 def: "A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye." [https://orcid.org/0000-0002-0736-9199, PMID:28082927] comment: The term cortical/cerebral visual impairment (CVI) was coined to describe damage to visual pathways and structures occurring during early perinatal development. The term cortical visual impairment was originally proposed to describe visual dysfunction in pediatric populations of non-ocular cause, and its presumed association with damage to early visual cortical areas. However, as further characterization of this condition progressed, it became evident that CVI was often associated with damage to sites beyond early visual cortex including subcortical structures, white matter pathways, as well as higher-order associative processing areas of the cortex. Thus, the word cortical has been viewed as somewhat of a misnomer, and there has been the suggestion that the term cerebral would be a more encompassing and appropriate term. Although there is still a debate in the community about the most appropriate nomenclature, the HPO will regard these terms as synonymous. It is recommended that more specific terms be used as appropriate for annotation. synonym: "Cortical blindness" EXACT [] synonym: "Cortical visual impairment" EXACT [] synonym: "Cortical/cerebral visual impairment" EXACT [] synonym: "CVI" EXACT abbreviation [] xref: MSH:D019575 xref: SNOMEDCT_US:413924001 xref: SNOMEDCT_US:68574006 xref: UMLS:C0155320 xref: UMLS:C4048268 is_a: HP:0000505 ! Visual impairment property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2011-03-31T01:03:21Z [Term] id: HP:0100716 name: Self-injurious behavior def: "Self-aggression." [] comment: All of these actions can be impulsive, compulsive, or planned. synonym: "Autoagression" EXACT [] synonym: "Self injury" EXACT [] synonym: "Self-harm" EXACT [] synonym: "Self-injurious behavior" EXACT layperson [] synonym: "Self-injurious behaviors" EXACT [] synonym: "Self-injurious behaviour" EXACT layperson [] synonym: "Self-injurious behaviours" EXACT [] xref: MSH:D016728 xref: SNOMEDCT_US:248062006 xref: UMLS:C0085271 is_a: HP:0000708 ! Atypical behavior property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-6624-2975 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-2984-1124 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4691-7362 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-6581-7754 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7674-1767 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2598-6622 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4014-4490 property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2011-05-16T06:47:54Z [Term] id: HP:0100727 name: Histiocytosis def: "An excessive number of histiocytes (tissue macrophages)." [https://orcid.org/0009-0006-4530-3154] xref: DOID:3405 xref: MeSH:D015614 xref: MSH:D015614 xref: SNOMEDCT_US:60657004 xref: SNOMEDCT_US:65396000 xref: UMLS:C0019618 is_a: HP:0001881 ! Abnormal leukocyte morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2011-06-06T04:43:05Z [Term] id: HP:0100738 name: Abnormal eating behavior def: "Abnormal eating habits involve excessive or insufficient consumption of food, or any other abnormal pattern of food consumption." [] comment: Please note that this HPO term refers to an abnormal eating habit but does not directly refer to an eating disorder. An eating disorder is a psychological disorder characterized by one or more abnormal eating behaviors. synonym: "Abnormal eating behavior" EXACT layperson [] synonym: "Abnormal eating behaviour" EXACT uk_spelling [] xref: UMLS:C4021982 is_a: HP:0000708 ! Atypical behavior property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-6624-2975 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-2984-1124 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4691-7362 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-6581-7754 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7674-1767 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2598-6622 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4014-4490 property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2011-06-06T05:54:51Z [Term] id: HP:0100749 name: Chest pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest." [] synonym: "Chest discomfort" RELATED [] synonym: "Chest pain" EXACT layperson [] synonym: "Thoracic pain" EXACT [] xref: MSH:D002637 xref: SNOMEDCT_US:29857009 xref: UMLS:C0008031 is_a: EFO:0003843 ! pain is_a: HP:0025142 ! Constitutional symptom property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2011-06-06T06:36:48Z [Term] id: HP:0100755 name: Abnormality of salivation synonym: "Abnormal spit" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of salivation" EXACT layperson [] xref: UMLS:C4021978 is_a: HP:0000153 ! Abnormality of the mouth property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2011-06-07T10:01:04Z [Term] id: HP:0100759 name: Clubbing of fingers def: "Terminal broadening of the fingers (distal phalanges of the fingers)." [https://orcid.org/0009-0006-4530-3154] subset: hposlim_core synonym: "Clubbed fingers" EXACT layperson [] synonym: "Clubbing (hands)" EXACT layperson [] synonym: "Clubbing of fingers" EXACT layperson [] synonym: "Finger clubbing" EXACT layperson [] xref: MEDDRA:10016680 "Finger clubbing" xref: MSH:D010005 xref: SNOMEDCT_US:30760008 xref: UMLS:C0009080 is_a: HP:0001167 ! Abnormal finger morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2011-06-07T10:25:26Z [Term] id: HP:0100763 name: Abnormality of the lymphatic system alt_id: HP:0003012 def: "An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively." [https://orcid.org/0000-0002-0736-9199] synonym: "Lymphatic disease" RELATED [] xref: MSH:D008206 xref: SNOMEDCT_US:111590001 xref: SNOMEDCT_US:234087005 xref: SNOMEDCT_US:3305006 xref: SNOMEDCT_US:362971004 xref: UMLS:C0024228 xref: UMLS:C4021976 is_a: HP:0002597 ! Abnormality of the vasculature is_a: HP:0002715 ! Abnormality of the immune system property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2011-06-07T10:40:36Z [Term] id: HP:0100783 name: Breast aplasia def: "Failure to develop and congenital absence of the breast." [] synonym: "Absent breast" EXACT layperson [] synonym: "Congenital absence of breast" EXACT [] synonym: "Mammary gland aplasia" EXACT [] xref: SNOMEDCT_US:111324004 xref: UMLS:C0266009 is_a: HP:0000769 ! Abnormality of the breast property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2011-06-07T06:02:34Z [Term] id: HP:0100790 name: Hernia synonym: "Hernias" RELATED [https://orcid.org/0000-0002-5316-1399] xref: MSH:D006547 xref: SNOMEDCT_US:414403008 xref: SNOMEDCT_US:52515009 xref: UMLS:C0019270 is_a: HP:0003549 ! Abnormality of connective tissue property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2011-06-08T02:33:37Z [Term] id: HP:0100806 name: Sepsis def: "Systemic inflammatory response to infection." [https://orcid.org/0000-0002-0736-9199] synonym: "Infection in blood stream" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D018805 xref: UMLS:C0036690 is_a: HP:0002715 ! Abnormality of the immune system property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2011-06-09T01:05:51Z [Term] id: HP:0100807 name: Long fingers alt_id: HP:0006010 def: "The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand." [PMID:19125433] synonym: "Long fingers" EXACT layperson [] xref: UMLS:C1858091 is_a: HP:0001167 ! Abnormal finger morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2011-06-09T01:13:15Z [Term] id: HP:0100813 name: Testicular torsion def: "Testicular torsion is when the spermatic cord to a testicle twists, cutting off the blood supply. The most common symptom is acute testicular pain." [https://orcid.org/0009-0006-4530-3154] comment: Many of the symptoms of testicular torsion are similar to the infection epididymitis. synonym: "Spermatic cord torsion" EXACT [] xref: MSH:D013086 xref: SNOMEDCT_US:49198006 xref: SNOMEDCT_US:81996005 xref: UMLS:C0037856 is_a: HP:0000078 ! Abnormality of the genital system property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2011-06-09T02:03:12Z [Term] id: HP:0100825 name: Cheilitis def: "Inflammation of the lip." [https://orcid.org/0009-0006-4530-3154] comment: It is associated with many conditions, including megaloblastic anemia from vitamin B12 deficiency, iron deficiency anemia (which in severe cases can lead to Plummer-Vinson syndrome) and oral candidiasis. It can also be a symptom of allergies, such as allergy to Balsam of Peru. Cheilitis can also be caused by taking the (retinoid) drug Isotretinoin. It may also be a pre-malignant lesion for squamous cell carcinoma. subset: hposlim_core synonym: "Inflammation of the lips" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Red and sore lips" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: MeSH:D002613 xref: MSH:D002613 xref: NCIt:C79545 xref: SNOMEDCT:7847004 xref: SNOMEDCT_US:7847004 xref: UMLS:C0007971 xref: UMLS:C4280288 is_a: HP:0000153 ! Abnormality of the mouth is_a: MP:0001845 ! inflammation property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2011-06-09T05:18:41Z [Term] id: HP:0100832 name: Vitreous floaters def: "Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent." [https://orcid.org/0009-0006-4530-3154] comment: Vitreous floaters are described as vitreous condensations (or vitreous debris or vitreous opacities) as a finding upon ophthalmological examination. Floaters can take many forms from little dots, circles, lines, to clouds or cobwebs. The floaters are created by a shadow of the floating vitreal debris that is projected onto the retina, which is described as a veil. synonym: "Eye floaters" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Flitting flies" EXACT [] synonym: "Mouches volantes" EXACT [] synonym: "Myodeopsia" EXACT [] synonym: "Myodesopsia" EXACT [] synonym: "Spots in front of eyes" EXACT layperson [] synonym: "Vitreous condensations" EXACT [] synonym: "Vitreous debris" EXACT [] synonym: "Vitreous opacities" EXACT [] synonym: "Vitreous veils" EXACT [] xref: SNOMEDCT_US:15013002 xref: SNOMEDCT_US:162278001 xref: SNOMEDCT_US:420999000 xref: UMLS:C0016242 xref: UMLS:C1720491 is_a: HP:0000504 ! Abnormality of vision is_a: HP:0004329 ! Abnormal posterior eye segment morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2011-06-09T05:58:09Z [Term] id: HP:0100851 name: Abnormal emotion def: "Abnormalities in the intensity, frequency, or duration of emotional experiences." [] synonym: "Abnormal emotion processing" EXACT [] synonym: "Abnormal emotion/affect behaviour" EXACT [] synonym: "Abnormal mood/emotion/affect" EXACT [] synonym: "Abnormal mood/emotion/affect/thought" EXACT [] synonym: "Emotion dysregulation" EXACT [] xref: UMLS:C4020949 is_a: HP:0011446 ! Abnormality of mental function property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-1111-7357 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7954-5235 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2897-0458 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4298-5074 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4618-6544 property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2011-06-23T11:07:13Z [Term] id: HP:0100880 name: Nephrogenic rest def: "Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney." [https://orcid.org/0009-0006-4530-3154] comment: Though NR are best known as precursors of Wilms tumor (WT), many alternative fates are observed, and most rests are destined for eventual atresia. Nephroblastomatosis refers to the presence of multifocal or diffuse nephrogenic rests. xref: NCIt:C88537 xref: SNOMEDCT_US:405933007 xref: UMLS:C1320468 is_a: HP:0012210 ! Abnormal renal morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2011-12-01T02:41:34Z [Term] id: HP:0200023 name: Priapism def: "A painful and harmful medical condition in which the erect penis doesn't return to its flaccid state, despite the absence of both physical and psychological stimulation, within four hours." [https://orcid.org/0000-0002-5316-1399] synonym: "hulseyism" EXACT [] xref: MSH:D011317 xref: SNOMEDCT_US:6273006 xref: UMLS:C0033117 is_a: HP:0000078 ! Abnormality of the genital system property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5316-1399 creation_date: 2010-06-16T05:00:44Z [Term] id: HP:0200026 name: Ocular pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye." [] synonym: "Eye pain" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: MSH:D058447 xref: SNOMEDCT_US:41652007 xref: UMLS:C0151827 is_a: HP:0000478 ! Abnormality of the eye is_a: HP:0025142 ! Constitutional symptom property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5316-1399 creation_date: 2010-06-16T07:39:04Z [Term] id: HP:0200032 name: Kayser-Fleischer ring def: "Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea." [https://orcid.org/0000-0002-5316-1399] synonym: "Fleischer's ring" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Fleischer-Kayser ring" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Fleischer-Struempell ring" EXACT [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:77103006 xref: UMLS:C0152457 is_a: HP:0007957 ! Corneal opacity property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5316-1399 creation_date: 2010-06-24T12:30:24Z [Term] id: HP:0200037 name: Skin vesicle def: "A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point." [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C3814530 is_a: HP:0011121 ! Abnormal skin morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5316-1399 creation_date: 2010-06-18T01:58:15Z [Term] id: HP:0200042 name: Skin ulcer def: "A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat." [https://orcid.org/0000-0002-5316-1399] subset: hposlim_core synonym: "Open skin sore" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MedDRA:10040943 xref: MEDDRA:10040943 "Skin ulcer" xref: MSH:D012883 xref: NCIt:C54247 xref: SNOMEDCT:46742003 xref: SNOMEDCT_US:46742003 xref: UMLS:C0037299 is_a: HP:0011121 ! Abnormal skin morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5316-1399 creation_date: 2010-06-18T02:17:00Z [Term] id: HP:0200049 name: Upper limb hypertonia def: "Increased muscle tone observed in the arms of the affected person." [https://orcid.org/0000-0002-6670-9157, PMID:21642056] xref: UMLS:C4021898 is_a: HP:0002509 ! Limb hypertonia is_a: HP:0002817 ! Abnormality of the upper limb property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5316-1399 [Term] id: HP:0200055 name: Small hand def: "Disproportionately small hand." [https://orcid.org/0000-0002-0736-9199] synonym: "Disproportionately small hands" EXACT layperson [] synonym: "Small hand" EXACT layperson [] synonym: "Small hands" RELATED layperson [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:299032009 xref: UMLS:C0575802 is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0011842 ! Abnormal skeletal morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5316-1399 [Term] id: HP:0200065 name: Chorioretinal degeneration alt_id: HP:0007912 alt_id: HP:0007945 xref: SNOMEDCT_US:247177004 xref: UMLS:C0521683 is_a: HP:0000479 ! Abnormal retinal morphology is_a: HP:0000610 ! Abnormal choroid morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5316-1399 creation_date: 2013-05-31T01:29:16Z [Term] id: HP:0200119 name: Acute hepatitis def: "Acute hepatic injury resulting from inflammation typically accompanied by increased serum alanine transaminase activity. Etiologies include viral hepatitis, drugs, toxins, and autoimmune disorders." [] synonym: "Acute liver inflammation" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:37871000 xref: UMLS:C0267797 is_a: HP:0012115 ! Hepatitis property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5316-1399 creation_date: 2013-06-11T11:15:57Z [Term] id: HP:0200134 name: Epileptic encephalopathy def: "A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death." [PMID:21590624, PMID:23213494] comment: Seizures alone without any underlying neurologic or medical illness can be the sole cause of encephalopathy. Patients with seizures as a cause or consequence of encephalopathy present with a wide variety of neurologic symptoms from mild reduction or alteration of consciousness to coma. Findings on neurologic exam are often nonfocal, nonspecific, and not predictive of the presence of seizures. Patients may or may not have subtle motor findings accompanying the presentation of encephalopathy. Signs range from very focal findings, such as nystagmus, eye flutter, blinking, and eye deviation to more widespread signs, such as myoclonus, tremulousness, and autonomic instability. synonym: "Convulsive encephalopathy" EXACT [] xref: UMLS:C0543888 is_a: HP:0001298 ! Encephalopathy property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5316-1399 creation_date: 2013-06-11T04:02:30Z [Term] id: HP:0200148 name: Abnormal liver function tests during pregnancy synonym: "Abnormal liver function tests during pregnancy" EXACT layperson [] synonym: "Abnormal liver function tests during pregnancy, resolves postpartum" RELATED [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C2750654 xref: UMLS:C4021883 is_a: HP:0002910 ! Elevated hepatic transaminase property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5316-1399 creation_date: 2013-06-13T01:01:21Z [Term] id: HP:0400007 name: Polymenorrhea def: "Frequent menses; menstrual cycles lasting less than 21 days." [PMID:22594864] xref: MSH:D008599 xref: SNOMEDCT_US:52754008 xref: UMLS:C0032519 is_a: HP:0000078 ! Abnormality of the genital system [Term] id: HP:0410049 name: Abnormal radial ray morphology comment: An abnormality of the radial ray; the thumb bones and 1st meta carpel. {xref="https://orcid.org/0000-0002-9353-5498"} synonym: "Abnormality of radial ray" EXACT [] synonym: "Deformity of radial ray" EXACT [] synonym: "Radial ray abnormality" EXACT [] synonym: "Radial ray anomaly" EXACT [] synonym: "Radial ray deformity" EXACT [] is_a: HP:0011842 ! Abnormal skeletal morphology is_a: HP:0040064 ! Abnormality of limbs property_value: http://purl.org/dc/elements/1.1/date 2017-10-16T20:21:52Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410204 name: Increased intestinal transit time def: "An increase in the length of time required for food to pass through the intestines." [PMID:22206545] is_a: HP:0030895 ! Abnormal gastrointestinal motility property_value: http://purl.org/dc/elements/1.1/date 2018-08-15T02:19:44Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: HP:0430008 name: Accessory eyelid def: "The presence of more than the normal number of eyelids." [HPO_CONTRIBUTOR:GOC_MG] synonym: "Double eyelid" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Extra eyelid" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:24606006 xref: UMLS:C0266576 xref: UMLS:C4280275 is_a: HP:0000271 ! Abnormality of the face property_value: gwas:trait "true" xsd:boolean [Term] id: IAO:0000009 name: label def: "A label is a symbol that is part of some other datum and is used to either partially define the denotation of that datum or to provide a means for identifying the datum as a member of the set of data with the same label." [] xref: NCIt:C45561 is_a: IAO:0000030 ! information entity property_value: IAO:0000117 "IAO Group" xsd:string [Term] id: IAO:0000027 name: data item def: "Data is an information entity that is intended to be a truthful statement about something (modulo, e.g., measurement precision or other systematic errors) and is constructed/acquired by a method which reliably tends to produce (approximately) truthful statements." [] is_a: IAO:0000030 ! information entity property_value: definition:citation "IAO" xsd:string [Term] id: IAO:0000030 name: information entity def: "An information entity is an entity that represents information about some other entity. For example, a measurement, a clustered data set." [] synonym: "information content entity" EXACT [] is_a: EFO:0000001 ! experimental factor property_value: ArrayExpress:label "information" xsd:string property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001435 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: organizational:class "true" xsd:string property_value: source:definition "an information content entity is an entity that is generically dependent on some artifact and stands in relation of aboutness to some entity" xsd:string [Term] id: IAO:0000098 name: data format specification def: "A data format specification is the information content borne by the document published defining the specification. Example: The ISO document specifying what encompasses an XML document; The instructions in a XSD file" [] is_a: IAO:0000030 ! information entity property_value: IAO:0000117 "Alan Ruttenberg" xsd:string [Term] id: IAO:0000100 name: data set def: "A data set is an information entity that is an aggregate of other information entities that have something in common and are considered to form a unit." [] xref: NCIt:C47824 is_a: IAO:0000030 ! information entity property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001445 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: IAO:0000101 name: image def: "An image is an affine projection to a two dimensional surface, of measurements of some quality of an entity or entities repeated at regular intervals across a spatial range, where the measurements are represented as color and luminosity on the projected on surface." [] xref: NCIt:C48179 xref: SNOMEDCT:900000000000520007 is_a: IAO:0000030 ! information entity property_value: definition:citation "OBI" xsd:string [Term] id: IDO:0000450 name: pathogenicity def: "The ability of a pathogen to produce an infectious disease or disorder in an organism." [] xref: MeSH:Q000472 is_a: BFO:0000016 ! disposition property_value: IAO:0000117 "IDO editors" xsd:string [Term] id: MA:0000191 name: hippocampus def: "A curved elongated ridge that extends over the floor of the descending horn of each lateral ventricle of the brain and consists of gray matter covered on the ventricular surface with white matter;nThe hippocampus is a part of the temporal lobe, which has a well established role in learning, memory and emotion." [] def: "A part of the brain consisting of a three layered cortex located in the forebrain bordering the medial surface of the lateral ventricle. The term hippocampus is often used synonymously with hippocampal formation which consists of the hippocampus proper or Cornu Ammonis, the dentate gyrus and the subiculum." [] synonym: "ammon horn" EXACT [] synonym: "Ammon's horn" EXACT [] synonym: "CNS - Brain - Hippocampus (MMHCC)" EXACT [] synonym: "Cornu ammonis" EXACT [] synonym: "hippocampus major" EXACT [] synonym: "hippocampus proper" EXACT [] xref: BTO:0000601 xref: EMAPA:19148 xref: EV:0100180 xref: FMA:62493 xref: MA:0000191 xref: MAT:0000114 xref: MeSH:D006624 xref: NCIt:C12444 xref: NIFSTD:birnlex_721 xref: NIFSTD:birnlex_726 xref: SAEL:51 is_a: UBERON:0000955 ! brain relationship: part_of UBERON:0001890 ! forebrain property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: MA:0002714 name: autopod def: "The generic name for hand, paw, foot etc" [] synonym: "foot" EXACT [] synonym: "hand" EXACT [] synonym: "paw" EXACT [] xref: EV:0100452 xref: MA:0002714 xref: MAT:0000091 xref: MeSH:D005528 xref: MeSH:D006225 xref: NCIt:C32622 xref: NCIt:C32712 xref: NCIt:C77660 xref: NIFSTD:nlx_anat_20090603 xref: SAEL:41 xref: SAEL:45 is_a: UBERON:0002101 ! limb property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: MONDO:0000005 name: alopecia, isolated xref: OMIMPS:203655 {source="MONDO:equivalentTo"} is_a: MONDO:0021034 ! hereditary alopecia property_value: exactMatch https://omim.org/phenotypicSeries/PS203655 [Term] id: MONDO:0000009 name: inherited bleeding disorder, platelet-type synonym: "bleeding disorder, platelet-type" EXACT [OMIMPS:231200] synonym: "blood platelet disease" BROAD [DOID:2218] synonym: "platelet disorder" BROAD [DOID:2218] synonym: "thrombocytopathy" RELATED [DOID:2218] xref: DOID:2218 {source="MONDO:equivalentTo"} xref: OMIMPS:231200 {source="MONDO:equivalentTo"} xref: UMLS:C0005818 {source="MONDO:equivalentTo", source="DOID:2218"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0002243 {source="DOID:2218", source="MONDO:Redundant", source="MONDO:cjm"} ! hemorrhagic disease is_a: MONDO:0002245 {source="MONDO:Entailed", source="MONDO:Redundant"} ! blood platelet disease property_value: exactMatch DOID:2218 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005818 property_value: exactMatch https://omim.org/phenotypicSeries/PS231200 [Term] id: MONDO:0000014 name: colorblindness, partial is_a: MONDO:0001703 {source="https://orcid.org/0000-0001-5208-3432"} ! color vision disorder [Term] id: MONDO:0000015 name: classic complement early component deficiency def: "A genetic deficiency of any early component of the classical pathway (C1q, C1r/s, C2, C4, and C3) that is associated with autoimmune diseases due to the failure of clearance of immune complexes (IC) and apoptotic materials, and the impairment of normal humoral response." [https://orcid.org/0000-0001-5208-3432, PMID:22773339] subset: gard_rare {source="GARD:0009526"} synonym: "genetic deficiency of early component of the classical complement pathway" EXACT [https://orcid.org/0000-0001-5208-3432] xref: ICD9:279.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:363009005 {source="MONDO:equivalentTo"} xref: UMLS:C1285186 {source="GARD:0009526", source="MONDO:equivalentTo"} is_a: MONDO:0003832 {source="https://orcid.org/0000-0001-5208-3432"} ! complement deficiency property_value: exactMatch http://identifiers.org/snomedct/363009005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1285186 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9526/complement-component-deficiency xsd:anyURI {source="GARD:0009526"} [Term] id: MONDO:0000023 name: infantile liver failure comment: OMIM series 615438. Plus one non-syndrome. OMIM series covers only syndromes but I left off "syndrome" from the series name (smb). synonym: "fever-associated acute infantile liver failure syndrome" EXACT [Orphanet:464724] synonym: "infantile liver failure syndrome" EXACT [OMIMPS:615438] synonym: "liver failure, infantile" EXACT [OMIMPS:615438] xref: DOID:0080716 {source="MONDO:equivalentTo"} xref: OMIMPS:615438 {source="MONDO:equivalentTo"} xref: Orphanet:464724 {source="MONDO:equivalentTo"} xref: UMLS:CN228161 {source="MONDO:equivalentTo"} is_a: MONDO:0015508 {source="MONDO:cjm"} ! hereditary parenchymatous liver disease property_value: exactMatch DOID:0080716 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN228161 property_value: exactMatch https://omim.org/phenotypicSeries/PS615438 property_value: exactMatch Orphanet:464724 [Term] id: MONDO:0000030 name: sleep-related hypermotor epilepsy synonym: "epilepsy, nocturnal frontal lobe" EXACT [OMIMPS:600513] synonym: "sleep-related hypermotor epilepsy" EXACT [PMID:27164717] xref: OMIMPS:600513 {source="MONDO:equivalentTo"} is_a: MONDO:0002612 ! frontal lobe epilepsy is_a: MONDO:0017704 ! familial partial epilepsy property_value: exactMatch https://omim.org/phenotypicSeries/PS600513 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3891 xsd:anyURI [Term] id: MONDO:0000032 name: febrile seizures, familial synonym: "seizures, familial febrile" EXACT [OMIMPS:121210] xref: DOID:0111297 {source="MONDO:equivalentTo"} xref: OMIMPS:121210 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="MONDO:cjm"} ! genetic disorder property_value: exactMatch DOID:0111297 property_value: exactMatch https://omim.org/phenotypicSeries/PS121210 [Term] id: MONDO:0000044 name: hereditary hypophosphatemic rickets def: "Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." [Orphanet:437] subset: disease_grouping subset: gard_rare {source="GARD:0006735"} subset: ordo_group_of_disorders {source="Orphanet:437"} synonym: "hereditary hypophosphatemic rickets" EXACT [MONDO:patterns/hereditary] xref: ICD10CM:E83.3 {source="Orphanet:437/inclusion", source="Orphanet:437/ntbt", source="MONDO:relatedTo", source="Orphanet:437"} xref: MedDRA:10060873 {source="Orphanet:437", source="Orphanet:437/e"} xref: OMIMPS:193100 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:437 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0024300 ! hypophosphatemic rickets intersection_of: MONDO:0024300 ! hypophosphatemic rickets intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: closeMatch http://identifiers.org/meddra/10060873 property_value: exactMatch https://omim.org/phenotypicSeries/PS193100 property_value: exactMatch Orphanet:437 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6735/hypophosphatemic-rickets xsd:anyURI {source="GARD:0006735"} [Term] id: MONDO:0000045 name: hypothyroidism, congenital, nongoitrous xref: OMIMPS:275200 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0018612 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital hypothyroidism property_value: exactMatch https://omim.org/phenotypicSeries/PS275200 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0000050 name: isolated congenital growth hormone deficiency subset: ordo_disease {source="Orphanet:631"} synonym: "congenital IGHD" EXACT [DOID:0060870, Orphanet:631] synonym: "congenital isolated GH deficiency" EXACT [DOID:0060870, Orphanet:631] synonym: "congenital isolated growth hormone deficiency" EXACT [DOID:0060870, Orphanet:631] synonym: "familial isolated growth hormone deficiency" EXACT [DOID:0060870] synonym: "ICGHD" EXACT ABBREVIATION [MONDO:cjm] synonym: "IGHD" EXACT ABBREVIATION [DOID:0060870] synonym: "isolated growth hormone deficiency" EXACT [DOID:0060870, OMIMPS:262400] synonym: "non-acquired isolated growth hormone deficiency" RELATED [DOID:0060870] xref: DOID:0060870 {source="MONDO:equivalentTo"} xref: MedDRA:10035083 {source="Orphanet:631", source="Orphanet:631/e"} xref: OMIMPS:262400 {source="MONDO:equivalentTo"} xref: Orphanet:631 {source="DOID:0060870", source="MONDO:equivalentTo"} xref: SCTID:2109003 {source="MONDO:equivalentTo"} xref: UMLS:C0013338 {source="Orphanet:631", source="DOID:0060870", source="MONDO:relatedTo", source="Orphanet:631/e"} is_a: MONDO:0013099 ! combined pituitary hormone deficiencies, genetic form property_value: closeMatch http://identifiers.org/meddra/10035083 property_value: exactMatch DOID:0060870 property_value: exactMatch http://identifiers.org/snomedct/2109003 property_value: exactMatch https://omim.org/phenotypicSeries/PS262400 property_value: exactMatch Orphanet:631 [Term] id: MONDO:0000060 name: microcephalic osteodysplastic primordial dwarfism xref: UMLS:CN239360 {source="MONDO:equivalentTo"} is_a: MONDO:0001149 {source="https://orcid.org/0000-0001-5208-3432"} ! microcephaly property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239360 [Term] id: MONDO:0000062 name: isolated microphthalmia def: "A microphthalmia that is not part of a larger syndrome." [MONDO:patterns/isolated] synonym: "microphthalmia, isolated" EXACT [OMIMPS:251600] synonym: "nonsyndromic microphthalmia" EXACT [MONDO:patterns/isolated] xref: DOID:0080637 {source="MONDO:equivalentTo"} xref: OMIMPS:251600 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0005569 {source="MONDO:Redundant", source="MONDO:cjm"} ! microphthalmia intersection_of: EFO:0005569 ! microphthalmia intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation relationship: has_characteristic MONDO:0021128 ! has an isolated presentation property_value: exactMatch DOID:0080637 property_value: exactMatch https://omim.org/phenotypicSeries/PS251600 [Term] id: MONDO:0000065 name: microvascular complications of diabetes, susceptibility comment: Editor note: relationship to diabetic angiopathy subset: predisposition synonym: "microvascular complications of diabetes" EXACT [OMIMPS:603933] xref: OMIMPS:603933 {source="MONDO:equivalentTo"} xref: UMLS:CN357508 {source="MONDO:equivalentTo"} is_a: MONDO:0020573 ! inherited disease susceptibility intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: predisposes_towards EFO:0003770 ! diabetic retinopathy relationship: predisposes_towards EFO:0003770 ! diabetic retinopathy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN357508 property_value: exactMatch https://omim.org/phenotypicSeries/PS603933 [Term] id: MONDO:0000066 name: mitochondrial complex deficiency is_a: MONDO:0004069 {source="https://orcid.org/0000-0001-5208-3432"} ! inborn mitochondrial metabolism disorder [Term] id: MONDO:0000070 name: mycobacterium tuberculosis, susceptibility subset: predisposition is_a: MONDO:0015979 ! hereditary predisposition to infections intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: predisposes_towards MONDO:0018076 ! tuberculosis relationship: predisposes_towards MONDO:0018076 ! tuberculosis [Term] id: MONDO:0000075 name: neuronopathy, distal hereditary motor comment: See genetic heterogeneity of OMIM 182960. is_a: EFO:0003782 {source="https://orcid.org/0000-0001-5208-3432"} ! motor neuron disease [Term] id: MONDO:0000078 name: acrocephalopolysyndactyly def: "A common presentation of craniosynostosis and polysyndactyly." [Wikipedia:Acrocephalosyndactylia] synonym: "ACPS" EXACT ABBREVIATION [Wikipedia:Acrocephalosyndactylia] xref: SCTID:205260006 {source="MONDO:equivalentTo"} xref: UMLS:C0687154 {source="MONDO:equivalentTo"} is_a: MONDO:0019796 {source="Wikipedia:Acrocephalosyndactylia"} ! acrocephalosyndactyly property_value: exactMatch http://identifiers.org/snomedct/205260006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0687154 [Term] id: MONDO:0000087 name: polymicrogyria def: "A developmental brain abnormality characterized by an excessive amount of small convolutions on the surface of the brain and cognitive dysfunction." [NCIT:C116936] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:35981"} xref: DOID:0080918 {source="MONDO:equivalentTo"} xref: MESH:D065706 {source="MONDO:equivalentTo"} xref: NCIT:C116936 {source="MONDO:equivalentTo"} xref: Orphanet:35981 {source="MONDO:equivalentTo"} xref: SCTID:4945003 {source="MONDO:equivalentTo"} xref: UMLS:C0266464 {source="Orphanet:35981/e", source="MONDO:equivalentTo", source="Orphanet:35981", source="NCIT:C116936"} is_a: MONDO:0002320 {source="NCIT:C116936"} ! congenital nervous system disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: exactMatch DOID:0080918 property_value: exactMatch http://identifiers.org/mesh/D065706 property_value: exactMatch http://identifiers.org/snomedct/4945003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266464 property_value: exactMatch NCIT:C116936 property_value: exactMatch Orphanet:35981 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:35981"} [Term] id: MONDO:0000088 name: precocious puberty def: "Unusually early sexual maturity." [NCIT:C79704] subset: disease_grouping subset: gard_rare {source="GARD:0007446"} subset: ordo_group_of_disorders {source="Orphanet:95708"} synonym: "familial precocious puberty" NARROW [GARD:0007446] synonym: "idiopathic sexual precocity" NARROW [GARD:0007446] synonym: "pubertas praecox" EXACT [https://rarediseases.org/rare-diseases/precocious-puberty/] synonym: "sexual precocity" EXACT [GARD:0007446, https://rarediseases.org/rare-diseases/precocious-puberty/] xref: HP:0000826 xref: ICD10CM:E30.1 {source="Orphanet:95708/nd", source="MONDO:equivalentTo", source="Orphanet:95708"} xref: ICD9:259.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10044701 {source="Orphanet:95708/e", source="Orphanet:95708"} xref: MedDRA:10058084 {source="Orphanet:95708/e", source="Orphanet:95708"} xref: MESH:D011629 {source="Orphanet:95708/e", source="MONDO:equivalentTo", source="Orphanet:95708"} xref: NCIT:C79704 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="MONDO:exact-label-match"} xref: Orphanet:95708 {source="MONDO:equivalentTo"} xref: SCTID:400179000 {source="MONDO:equivalentTo"} xref: UMLS:C0034013 {source="Orphanet:95708/e", source="MONDO:equivalentTo", source="Orphanet:95708"} is_a: MONDO:0002259 {source="MESH:D011629"} ! gonadal disorder is_a: MONDO:0021147 ! disorder of development or morphogenesis property_value: closeMatch http://identifiers.org/meddra/10044701 property_value: closeMatch http://identifiers.org/meddra/10058084 property_value: exactMatch http://identifiers.org/mesh/D011629 property_value: exactMatch http://identifiers.org/snomedct/400179000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034013 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E30.1 property_value: exactMatch NCIT:C79704 property_value: exactMatch Orphanet:95708 property_value: excluded_subClassOf MONDO:0019590 {source="Orphanet:95708"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7446/precocious-puberty xsd:anyURI {source="GARD:0007446"} [Term] id: MONDO:0000090 name: progressive external ophthalmoplegia with mitochondrial DNA deletions synonym: "progressive external ophthalmoplegia with mtDNA deletions" EXACT [OMIMPS:157640] xref: OMIMPS:157640 {source="MONDO:equivalentTo"} xref: UMLS:CN239267 {source="MONDO:equivalentTo"} is_a: EFO:0002509 {source="https://orcid.org/0000-0001-5208-3432"} ! progressive external ophthalmoplegia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239267 property_value: exactMatch https://omim.org/phenotypicSeries/PS157640 [Term] id: MONDO:0000104 name: anemia, hypochromic microcytic with iron overload synonym: "anemia, hypochromic microcytic, with iron overload" EXACT [OMIMPS:206100] xref: MESH:C567144 {source="MONDO:equivalentTo"} xref: OMIMPS:206100 {source="MONDO:equivalentTo"} xref: UMLS:C2673913 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0000387 {source="https://orcid.org/0000-0001-5208-3432"} ! hypochromic microcytic anemia property_value: exactMatch http://identifiers.org/mesh/C567144 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673913 property_value: exactMatch https://omim.org/phenotypicSeries/PS206100 [Term] id: MONDO:0000107 name: auriculocondylar syndrome def: "Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress." [Orphanet:137888] subset: ordo_malformation_syndrome {source="Orphanet:137888"} synonym: "auriculo-condylar syndrome" EXACT [MONDO:cjm] synonym: "dysgnathia complex" RELATED [MONDO:cjm] synonym: "ears prominent and constricted" RELATED [GARD:0009798] synonym: "question mark ear" RELATED [GARD:0009798] synonym: "question mark ear syndrome" EXACT [Orphanet:137888] synonym: "question-mark ear syndrome" RELATED [MONDO:cjm] xref: MESH:C538270 {source="Orphanet:137888", source="MONDO:equivalentTo", source="Orphanet:137888/e"} xref: OMIMPS:602483 {source="MONDO:equivalentTo"} xref: Orphanet:137888 {source="MONDO:equivalentTo"} xref: SCTID:702443003 {source="MONDO:equivalentTo"} xref: UMLS:C1865295 {source="Orphanet:137888", source="MONDO:equivalentTo", source="Orphanet:137888/e"} xref: UMLS:CN160484 {source="MONDO:equivalentTo"} is_a: MONDO:0007500 {source="MONDO:cjm"} ! ear malformation is_a: MONDO:0015334 {source="Orphanet:137888"} ! branchial arch or oral-acral syndrome property_value: exactMatch http://identifiers.org/mesh/C538270 property_value: exactMatch http://identifiers.org/snomedct/702443003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865295 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN160484 property_value: exactMatch https://omim.org/phenotypicSeries/PS602483 property_value: exactMatch Orphanet:137888 property_value: excluded_subClassOf MONDO:0015397 {source="Orphanet:137888"} [Term] id: MONDO:0000108 name: bacteremia, susceptibility subset: predisposition xref: UMLS:C3280646 {source="MONDO:equivalentTo"} is_a: MONDO:0015979 ! hereditary predisposition to infections intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: predisposes_towards EFO:0003033 ! bacteriemia relationship: predisposes_towards EFO:0003033 ! bacteriemia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280646 [Term] id: MONDO:0000110 name: bifid nose def: "Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated." [Orphanet:2695] subset: ordo_malformation_syndrome {source="Orphanet:2695"} xref: MESH:C535441 {source="Orphanet:2695", source="MONDO:equivalentTo", source="Orphanet:2695/e"} xref: Orphanet:2695 {source="MONDO:equivalentTo"} xref: UMLS:CN227089 {source="MONDO:equivalentTo"} is_a: MONDO:0015412 {source="Orphanet:2695"} ! median facial cleft is_a: MONDO:0015503 {source="Orphanet:2695"} ! nose and cavum anomaly is_a: MONDO:0018562 {source="Orphanet:2695", source="Orphanet:2695/inferred"} ! hereditary otorhinolaryngological malformation property_value: exactMatch http://identifiers.org/mesh/C535441 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227089 property_value: exactMatch Orphanet:2695 [Term] id: MONDO:0000111 name: camptodactyly syndrome, Guadalajara comment: Text for OMIM 211910 includes 211920 and 611929 as other types. is_a: EFO:0000508 ! genetic disorder [Term] id: MONDO:0000114 name: cerebelloparenchymal disorder is_a: EFO:0000508 ! genetic disorder [Term] id: MONDO:0000115 name: Chiari malformation def: "A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus." [NCIT:C84570] comment: Nomenclature of OMIM 118420 includes 207950 as another type. synonym: "(Arnold) Chiari malformation" EXACT [NCIT:C84570] synonym: "Arnold-Chiari malformation" EXACT [NCIT:C84570] synonym: "Chiari malformation" EXACT [NCIT:C84570] xref: MESH:D001139 {source="MONDO:equivalentTo"} xref: NCIT:C84570 {source="MONDO:equivalentTo"} xref: SCTID:253184003 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/D001139 property_value: exactMatch http://identifiers.org/snomedct/253184003 property_value: exactMatch NCIT:C84570 [Term] id: MONDO:0000118 name: reticulate pigment disorder synonym: "reticulate pigment disorders" EXACT [OMIMPS:179850] xref: OMIMPS:179850 {source="MONDO:equivalentTo"} is_a: MONDO:0019288 {source="OMIMPS:179850", source="https://orcid.org/0000-0002-4142-7153"} ! skin pigmentation disorder is_a: MONDO:0100118 ! hereditary skin disorder property_value: exactMatch https://omim.org/phenotypicSeries/PS179850 [Term] id: MONDO:0000119 name: congenital heart defects, multiple types comment: Genetic heterogeneity of OMIM:306955 which includes CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED lists 614980, 614954 and 615779 as forms of this disease. synonym: "CHTD" RELATED ABBREVIATION [] is_a: EFO:0005207 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital heart disease [Term] id: MONDO:0000127 name: geleophysic dysplasia def: "Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as \"happy'')." [Orphanet:2623] subset: ordo_malformation_syndrome {source="Orphanet:2623"} synonym: "geleophysic dwarfism" EXACT [Orphanet:2623] synonym: "geleophysic dwarfism syndrome" RELATED [MONDO:cjm] xref: DOID:0111724 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10063361 {source="Orphanet:2623", source="Orphanet:2623/e"} xref: OMIMPS:231050 {source="MONDO:equivalentTo"} xref: Orphanet:2623 {source="MONDO:equivalentTo"} xref: SCTID:28557005 {source="MONDO:equivalentTo"} is_a: MONDO:0019695 {source="Orphanet:2623"} ! acromelic dysplasia property_value: closeMatch http://identifiers.org/meddra/10063361 property_value: exactMatch DOID:0111724 property_value: exactMatch http://identifiers.org/snomedct/28557005 property_value: exactMatch https://omim.org/phenotypicSeries/PS231050 property_value: exactMatch Orphanet:2623 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4666 xsd:anyURI [Term] id: MONDO:0000128 name: giant axonal neuropathy def: "A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs." [NCIT:C84728] comment: See genetic heterogeneity of OMIM 256850. subset: clingen xref: ICD9:349.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D056768 {source="MONDO:equivalentTo"} xref: NCIT:C84728 {source="MONDO:equivalentTo"} xref: OMIMPS:256850 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: SCTID:128207002 {source="MONDO:equivalentTo"} xref: UMLS:C5200933 {source="MONDO:equivalentTo"} is_a: MONDO:0004183 {source="https://orcid.org/0000-0001-5208-3432"} ! axonal neuropathy is_a: MONDO:0020127 ! hereditary peripheral neuropathy property_value: exactMatch http://identifiers.org/mesh/D056768 property_value: exactMatch http://identifiers.org/snomedct/128207002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C5200933 property_value: exactMatch https://omim.org/phenotypicSeries/PS256850 property_value: exactMatch NCIT:C84728 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2532 xsd:anyURI [Term] id: MONDO:0000129 name: glutaric aciduria comment: Editor note: check relationship to multiple acyl-CoA dehydrogenase deficiency synonym: "glutaric acidemia" EXACT [MONDO:cjm] synonym: "glutaric aciduria" EXACT [MONDO:ambiguous] synonym: "glutaric aciduria (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0003150 {source="MONDO:otherHierarchy"} xref: HP:0003530 {source="MONDO:otherHierarchy"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:28987007 {source="MONDO:equivalentTo"} xref: UMLS:C0268594 {source="MONDO:equivalentTo"} is_a: EFO:0000589 ! metabolic disease property_value: exactMatch http://identifiers.org/snomedct/28987007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268594 property_value: IAO:0000589 "glutaric aciduria (disease)" xsd:string [Term] id: MONDO:0000133 name: immunodeficiency-centromeric instability-facial anomalies syndrome def: "The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9." [Orphanet:2268] subset: ordo_malformation_syndrome {source="Orphanet:2268"} synonym: "CIID" RELATED ABBREVIATION [GARD:0002945] synonym: "ICF syndrome" RELATED [DOID:0090007] synonym: "immunodeficiency-centromeric instability-facial anomalies" EXACT [OMIMPS:242860] synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome" EXACT [Orphanet:2268] xref: DOID:0090007 {source="MONDO:equivalentTo"} xref: MESH:C537362 {source="MONDO:equivalentTo"} xref: OMIMPS:242860 {source="MONDO:equivalentTo", source="DOID:0090007"} xref: Orphanet:2268 {source="MONDO:equivalentTo", source="DOID:0090007"} xref: SCTID:234633000 {source="MONDO:equivalentTo"} xref: UMLS:CN201349 {source="MONDO:equivalentTo"} is_a: EFO:1000017 {source="DOID:0090007", source="MONDO:Redundant", source="Orphanet:2268"} ! autosomal recessive disease is_a: MONDO:0100137 {source="PMID:29804726"} ! telomere syndrome property_value: exactMatch DOID:0090007 property_value: exactMatch http://identifiers.org/mesh/C537362 property_value: exactMatch http://identifiers.org/snomedct/234633000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201349 property_value: exactMatch https://omim.org/phenotypicSeries/PS242860 property_value: exactMatch Orphanet:2268 [Term] id: MONDO:0000136 name: keratosis follicularis spinulosa decalvans def: "Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma." [Orphanet:2340] subset: ordo_disease {source="Orphanet:2340"} synonym: "keratosis pilaris decalvans" EXACT [MONDO:cjm] xref: DOID:0080753 {source="MONDO:equivalentTo"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:2340 {source="MONDO:equivalentTo"} xref: SCTID:238626006 {source="MONDO:equivalentTo"} is_a: EFO:1000720 {source="https://orcid.org/0000-0001-5208-3432"} ! keratosis is_a: MONDO:0018855 {source="Orphanet:2340"} ! keratosis pilaris atrophicans is_a: MONDO:0020162 {source="Orphanet:2340"} ! secondary ectropion is_a: MONDO:0100118 ! hereditary skin disorder is_a: MONDO:0800159 {source="PMID:33340416"} ! disorder of polyamine metabolism property_value: exactMatch DOID:0080753 property_value: exactMatch http://identifiers.org/snomedct/238626006 property_value: exactMatch Orphanet:2340 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0000137 name: leukoencephalopathy, megalencephalic xref: OMIMPS:604004 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0005774 ! brain disease property_value: exactMatch https://omim.org/phenotypicSeries/PS604004 [Term] id: MONDO:0000141 name: mosaic variegated aneuploidy syndrome def: "Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition." [Orphanet:1052] subset: ordo_malformation_syndrome {source="Orphanet:1052"} synonym: "Mosaic variegated aneuploidy syndrome 1" EXACT [NCIT:C128192] synonym: "MVA1" EXACT ABBREVIATION [NCIT:C128192] synonym: "Warburton-Anyane-Yeboa syndrome" EXACT [Orphanet:1052] xref: DOID:0080688 {source="MONDO:equivalentTo"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536987 {source="Orphanet:1052/e", source="MONDO:equivalentTo", source="Orphanet:1052"} xref: NCIT:C128192 {source="MONDO:equivalentTo"} xref: OMIMPS:257300 {source="MONDO:equivalentTo"} xref: Orphanet:1052 {source="MONDO:equivalentTo", source="OMIM:257300"} xref: SCTID:700056005 {source="MONDO:equivalentTo"} xref: UMLS:C1850343 {source="Orphanet:1052/e", source="MONDO:equivalentTo", source="OMIM:257300", source="NCIT:C128192", source="Orphanet:1052"} is_a: MONDO:0015356 {source="MONDO:Redundant", source="MONDO:cjm", source="Orphanet:1052/inferred"} ! hereditary neoplastic syndrome is_a: MONDO:0019040 {source="MESH:C536987", source="Orphanet:1052"} ! chromosomal disorder relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic property_value: exactMatch DOID:0080688 property_value: exactMatch http://identifiers.org/mesh/C536987 property_value: exactMatch http://identifiers.org/snomedct/700056005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850343 property_value: exactMatch https://omim.org/phenotypicSeries/PS257300 property_value: exactMatch NCIT:C128192 property_value: exactMatch Orphanet:1052 [Term] id: MONDO:0000147 name: polyposis synonym: "multiple polyps" EXACT [NCIT:C4089] synonym: "polyposis" EXACT [NCIT:C4089] xref: NCIT:C4089 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C0334108 {source="NCIT:C4089", source="MONDO:equivalentTo"} is_a: MONDO:0021075 {source="NCIT:C4089"} ! neoplastic polyp property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334108 property_value: exactMatch NCIT:C4089 [Term] id: MONDO:0000148 name: pulmonary fibrosis and/or bone marrow failure, telomere-related comment: See genetic heterogeneity of OMIM 614742. xref: OMIMPS:614742 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: UMLS:CN262497 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0009448 {source="https://orcid.org/0000-0001-5208-3432"} ! pulmonary fibrosis is_a: MONDO:0100137 {source="OMIMPS:614742", source="https://github.com/monarch-initiative/mondo/issues/1631"} ! telomere syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN262497 property_value: exactMatch https://omim.org/phenotypicSeries/PS614742 [Term] id: MONDO:0000151 name: symphalangism xref: SCTID:253975004 {source="MONDO:equivalentTo"} is_a: EFO:0002461 ! skeletal system disease property_value: exactMatch http://identifiers.org/snomedct/253975004 [Term] id: MONDO:0000152 name: thiamine-responsive dysfunction syndrome synonym: "thiamine-responsive dysfunction syndrome" EXACT [] xref: OMIMPS:249270 {source="MONDO:equivalentTo"} is_a: MONDO:0017578 {source="https://orcid.org/0000-0001-5208-3432"} ! disorder of thiamine metabolism and transport property_value: exactMatch https://omim.org/phenotypicSeries/PS249270 [Term] id: MONDO:0000153 name: transposition of the great arteries def: "A congenital cardiac defect in which two heart vessels are reversed (transposed)." [NCIT:C84742] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:216675"} synonym: "complete transposition" EXACT [Orphanet:216675] synonym: "great vessels transposition" EXACT [NCIT:C84742] synonym: "TGA" EXACT ABBREVIATION [Orphanet:216675] synonym: "TGV" EXACT ABBREVIATION [Orphanet:216675] synonym: "transposition of great vessels" EXACT [NCIT:C84742] synonym: "transposition of the great vessels" EXACT [Orphanet:216675] xref: MESH:D014188 {source="MONDO:equivalentTo"} xref: NCIT:C84742 {source="MONDO:equivalentTo"} xref: Orphanet:216675 {source="MONDO:equivalentTo"} is_a: MONDO:0020285 {source="Orphanet:216675"} ! transposition of the great arteries and conotruncal cardiac anomaly property_value: exactMatch http://identifiers.org/mesh/D014188 property_value: exactMatch NCIT:C84742 property_value: exactMatch Orphanet:216675 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0000156 name: trigonocephaly synonym: "trigonocephalia" RELATED [MONDO:cjm] synonym: "trigonocephalus" RELATED [MONDO:cjm] synonym: "trigonocephaly" EXACT [OMIMPS:190440] synonym: "trigonocephaly, isolated" RELATED [OMIMPS:190440] xref: SCTID:28740008 {source="MONDO:equivalentTo"} is_a: MONDO:0018234 ! dysostosis property_value: exactMatch http://identifiers.org/snomedct/28740008 [Term] id: MONDO:0000159 name: bone marrow failure syndrome comment: Genetic heterogeneity of OMIM 614675 includes 615715. xref: MESH:C536572 {source="MONDO:equivalentTo"} xref: NCIT:C165614 {source="MONDO:equivalentTo"} xref: OMIMPS:614675 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: UMLS:C2931245 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0003225 {source="MESH:C536572/inferred"} ! bone marrow disorder property_value: exactMatch http://identifiers.org/mesh/C536572 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931245 property_value: exactMatch https://omim.org/phenotypicSeries/PS614675 property_value: exactMatch NCIT:C165614 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0000160 name: epilepsy, familial adult myoclonic xref: DOID:0111689 {source="MONDO:equivalentTo"} xref: OMIMPS:601068 {source="MONDO:equivalentTo"} is_a: MONDO:0016022 ! early myoclonic encephalopathy property_value: exactMatch DOID:0111689 property_value: exactMatch https://omim.org/phenotypicSeries/PS601068 [Term] id: MONDO:0000162 name: autoimmune thyroid disease, susceptibility to subset: predisposition is_a: MONDO:0020573 ! inherited disease susceptibility intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: predisposes_towards EFO:0006812 ! autoimmune thyroid disease relationship: predisposes_towards EFO:0006812 ! autoimmune thyroid disease property_value: excluded_subClassOf MONDO:0007699 [Term] id: MONDO:0000166 name: encephalopathy, acute, infection-induced xref: OMIMPS:610551 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: UMLS:CN236791 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0005774 ! brain disease is_a: MONDO:0020683 ! acute disease is_a: MONDO:0021669 ! post-infectious disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN236791 property_value: exactMatch https://omim.org/phenotypicSeries/PS610551 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0000167 name: Huntington disease and related disorders def: "A grouping for Huntington disease and similar diseases." [MONDO:cjm] is_a: MONDO:0024237 ! inherited neurodegenerative disorder [Term] id: MONDO:0000169 name: microphthalmia, isolated, with cataract xref: OMIMPS:156850 {source="MONDO:equivalentTo"} is_a: MONDO:0000062 {source="MONDO:Redundant", source="MONDO:cjm"} ! isolated microphthalmia intersection_of: MONDO:0000062 ! isolated microphthalmia intersection_of: disease_has_feature MONDO:0005129 ! cataract relationship: disease_has_feature MONDO:0005129 ! cataract property_value: exactMatch https://omim.org/phenotypicSeries/PS156850 [Term] id: MONDO:0000170 name: microphthalmia, isolated, with coloboma def: "A developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma." [Orphanet:98938] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:98938"} synonym: "colobomatous microphthalmia" EXACT [MONDO:0010303] synonym: "MAC" EXACT ABBREVIATION [Orphanet:98938] synonym: "MCOPCB1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300345] synonym: "microphthalmia associated with colobomatous cyst" RELATED [GARD:0003644] synonym: "microphthalmia with colobomatous cyst" EXACT [Orphanet:98938] synonym: "microphthalmia-anophthalmia-coloboma syndrome" EXACT [Orphanet:98938] synonym: "microphthalmos bilateral, colobomatous orbital cyst" RELATED [GARD:0003644, MESH:C537463] xref: MESH:C537463 {source="MONDO:equivalentTo"} xref: OMIMPS:300345 {source="MONDO:equivalentTo"} xref: Orphanet:98938 {source="MONDO:equivalentTo", source="OMIM:300345"} xref: UMLS:CN228419 {source="MONDO:equivalentTo"} is_a: MONDO:0000062 {source="MONDO:Redundant", source="MONDO:cjm"} ! isolated microphthalmia is_a: MONDO:0001476 {source="MESH:C537463", source="MONDO:Redundant"} ! coloboma is_a: MONDO:0016764 {source="Orphanet:98938"} ! isolated anophthalmia-microphthalmia syndrome intersection_of: MONDO:0000062 ! isolated microphthalmia intersection_of: disease_has_feature MONDO:0001476 ! coloboma relationship: disease_has_feature MONDO:0001476 ! coloboma property_value: exactMatch http://identifiers.org/mesh/C537463 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN228419 property_value: exactMatch https://omim.org/phenotypicSeries/PS300345 property_value: exactMatch Orphanet:98938 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3644/microphthalmia-associated-with-colobomatous-cyst xsd:anyURI {source="GARD:0003644"} [Term] id: MONDO:0000171 name: muscular dystrophy-dystroglycanopathy, type A subset: ordo_disease {source="Orphanet:899"} synonym: "cerebroocular dysgenesis" RELATED [GARD:0002599] synonym: "cerebroocular dysplasia muscular dystrophy syndrome" RELATED [GARD:0002599] synonym: "cerebroocular dysplasia-muscular dystrophy syndrome" EXACT [DOID:0050560] synonym: "Chemke syndrome" RELATED [GARD:0002599] synonym: "hard +/- E syndrome" RELATED [GARD:0002599] synonym: "hard syndrome" EXACT [DOID:0050560, Orphanet:899] synonym: "hydrocephalus, agyria and retinal dysplasia" RELATED [GARD:0002599] synonym: "hydrocephalus-agyria-retinal dysplasia syndrome" EXACT [Orphanet:899] synonym: "Pagon syndrome" RELATED [GARD:0002599] synonym: "Walker-Warburg muscular dystrophy" EXACT [NCIT:C99109] synonym: "Walker-Warburg syndrome" EXACT [MONDO:0019523] synonym: "Warburg syndrome" RELATED [GARD:0002599] synonym: "WWS" EXACT ABBREVIATION [Orphanet:899] xref: DOID:0050560 {source="MONDO:equivalentTo"} xref: MESH:D058494 {source="Orphanet:899", source="MONDO:equivalentTo", source="Orphanet:899/e"} xref: NCIT:C99109 {source="MONDO:equivalentTo"} xref: OMIMPS:236670 {source="MONDO:equivalentTo"} xref: Orphanet:899 {source="MONDO:equivalentTo"} xref: SCTID:111504002 {source="MONDO:equivalentTo"} xref: UMLS:CN239483 {source="MONDO:equivalentTo"} is_a: MONDO:0016156 {source="Orphanet:899"} ! qualitative or quantitative defects of FKRP is_a: MONDO:0016184 {source="Orphanet:899"} ! qualitative or quantitative defects of protein O-mannosyltransferase 1 is_a: MONDO:0016185 {source="Orphanet:899"} ! qualitative or quantitative defects of protein O-mannosyltransferase 2 is_a: MONDO:0017745 {source="Orphanet:899"} ! disorder of O-mannosylglycan synthesis is_a: MONDO:0018276 {source="https://orcid.org/0000-0001-5208-3432"} ! muscular dystrophy-dystroglycanopathy is_a: MONDO:0018869 ! cobblestone lissencephaly is_a: MONDO:0020247 {source="Orphanet:899"} ! congenital vitreoretinal dysplasia is_a: MONDO:0700066 ! myopathy caused by variation in FKRP is_a: MONDO:0700068 ! myopathy caused by variation in POMGNT1 property_value: exactMatch DOID:0050560 property_value: exactMatch http://identifiers.org/mesh/D058494 property_value: exactMatch http://identifiers.org/snomedct/111504002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239483 property_value: exactMatch https://omim.org/phenotypicSeries/PS236670 property_value: exactMatch NCIT:C99109 property_value: exactMatch Orphanet:899 [Term] id: MONDO:0000172 name: muscular dystrophy-dystroglycanopathy, type B xref: DOID:0112375 {source="MONDO:equivalentTo"} xref: OMIMPS:613155 {source="MONDO:equivalentTo"} xref: UMLS:CN228400 {source="MONDO:equivalentTo"} is_a: MONDO:0018276 {source="https://orcid.org/0000-0001-5208-3432"} ! muscular dystrophy-dystroglycanopathy property_value: exactMatch DOID:0112375 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN228400 property_value: exactMatch https://omim.org/phenotypicSeries/PS613155 [Term] id: MONDO:0000173 name: muscular dystrophy-dystroglycanopathy, type C xref: OMIMPS:609308 {source="MONDO:equivalentTo"} xref: UMLS:CN262500 {source="MONDO:equivalentTo"} is_a: MONDO:0018276 {source="https://orcid.org/0000-0001-5208-3432"} ! muscular dystrophy-dystroglycanopathy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN262500 property_value: exactMatch https://omim.org/phenotypicSeries/PS609308 [Term] id: MONDO:0000179 name: Neu-Laxova syndrome def: "Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterized by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." [Orphanet:2671] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2671"} synonym: "Neu Laxova syndrome" RELATED [GARD:0000102] synonym: "NLS" RELATED ABBREVIATION [GARD:0000102] synonym: "nuclear localization signal" EXACT [NCIT:C14089] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536405 {source="MONDO:equivalentTo", source="Orphanet:2671/e"} xref: NCIT:C14089 {source="MONDO:equivalentTo"} xref: OMIMPS:256520 {source="MONDO:equivalentTo"} xref: Orphanet:2671 {source="GARD:0000102", source="MONDO:equivalentTo", source="OMIM:256520"} xref: SCTID:77817004 {source="MONDO:equivalentTo"} xref: UMLS:C0265218 {source="GARD:0000102", source="MONDO:equivalentTo", source="Orphanet:2671/e"} is_a: MONDO:0015148 {source="Orphanet:2671"} ! lissencephaly type 3 is_a: MONDO:0015159 {source="Orphanet:2671"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0017270 ! autosomal ichthyosis syndrome is_a: MONDO:0018491 {source="Orphanet:2671"} ! 3-phosphoglycerate dehydrogenase deficiency property_value: exactMatch http://identifiers.org/mesh/C536405 property_value: exactMatch http://identifiers.org/snomedct/77817004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265218 property_value: exactMatch https://omim.org/phenotypicSeries/PS256520 property_value: exactMatch NCIT:C14089 property_value: exactMatch Orphanet:2671 [Term] id: MONDO:0000181 name: microcephaly and chorioretinopathy comment: Note that OMIM has two PS that appear to refer to the same thing xref: OMIMPS:251270 {source="MONDO:cjm", source="MONDO:equivalentTo"} is_a: MONDO:0001149 {source="https://orcid.org/0000-0001-5208-3432"} ! microcephaly is_a: MONDO:0004674 ! chorioretinitis is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder is_a: MONDO:0957008 ! hereditary cerebral malformation property_value: exactMatch https://omim.org/phenotypicSeries/PS251270 [Term] id: MONDO:0000188 name: GLUT1 deficiency syndrome def: "An epileptic encephalopathy resulting from impaired glucose transport into the brain." [PMID:17718830] comment: Editor note: note that in contrast to other phenotypic series, all members are caused by the same gene, SLC2A1 synonym: "GLUT1 deficiency syndrome" EXACT [] synonym: "GLUT1DS" EXACT ABBREVIATION [MONDO:cjm] xref: OMIMPS:606777 {source="MONDO:equivalentTo"} is_a: MONDO:0015653 ! monogenic epilepsy is_a: MONDO:0019226 ! glucose transport disorder is_a: MONDO:0100033 {source="https://orcid.org/0000-0001-8486-0558"} ! metabolic epilepsy property_value: exactMatch https://omim.org/phenotypicSeries/PS606777 [Term] id: MONDO:0000192 name: polyglucosan body myopathy xref: OMIMPS:615895 {source="MONDO:equivalentTo"} xref: UMLS:CN228160 {source="MONDO:equivalentTo"} is_a: EFO:0004145 {source="MONDO:cjm"} ! myopathy is_a: MONDO:0700223 ! hereditary skeletal muscle disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN228160 property_value: exactMatch https://omim.org/phenotypicSeries/PS615895 [Term] id: MONDO:0000193 name: cortisone reductase deficiency def: "A disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via 11beta-HSD1. The resulting lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in childhood with precocious pseudopuberty and females presenting in adolescence and early adulthood with hirsutism, oligoamenorrhea, and infertility." [PMID:21325058] subset: gard_rare {source="GARD:0009882"} subset: ordo_malformation_syndrome {source="Orphanet:168588"} synonym: "11-alpha beta-hydroxysteroid dehydrogenase type I deficiency of" RELATED [GARD:0009882] synonym: "11-beta-hydroxysteroid dehydrogenase deficiency type 1" EXACT [Orphanet:168588] synonym: "CORTRD" EXACT ABBREVIATION [DOID:0090139] synonym: "deficiency of (R)-20-hydroxysteroid dehydrogenase" EXACT [MONDO:cjm] synonym: "deficiency of cortisone reductase" EXACT [MONDO:cjm] synonym: "HSD 11B1 deficiency" NARROW [GARD:0009882] synonym: "hyperandrogenism due to cortisone reductase deficiency" EXACT [] xref: DOID:0090139 {source="MONDO:equivalentTo"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536447 {source="MONDO:equivalentTo"} xref: OMIMPS:604931 {source="MONDO:equivalentTo", source="DOID:0090139"} xref: Orphanet:168588 {source="MONDO:equivalentTo"} xref: SCTID:124138004 {source="MONDO:equivalentTo"} xref: UMLS:CN200166 {source="MONDO:equivalentTo"} is_a: MONDO:0002525 ! inherited lipid metabolism disorder is_a: MONDO:0015898 {source="Orphanet:168588"} ! adrenogenital syndrome is_a: MONDO:0016072 {source="MONDO:Redundant", source="Orphanet:168588"} ! anomaly of puberty or/and menstrual cycle of genetic origin property_value: exactMatch DOID:0090139 property_value: exactMatch http://identifiers.org/mesh/C536447 property_value: exactMatch http://identifiers.org/snomedct/124138004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200166 property_value: exactMatch https://omim.org/phenotypicSeries/PS604931 property_value: exactMatch Orphanet:168588 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9882/cortisone-reductase-deficiency xsd:anyURI {source="GARD:0009882"} [Term] id: MONDO:0000200 name: Zimmermann-Laband syndrome def: "Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet." [Orphanet:3473] subset: ordo_malformation_syndrome {source="Orphanet:3473"} subset: prototype_pattern synonym: "fibromatosis gingival, hepatosplenomegaly other anomalies" RELATED [GARD:0000385] synonym: "gingival fibromatosis, abnormal fingers, fingernails, nose and ears, and splenomegaly" RELATED [GARD:0000385] synonym: "gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome" EXACT [Orphanet:3473] synonym: "Laband syndrome" EXACT [Orphanet:3473] synonym: "Laband-Zimmermann syndrome" RELATED [MONDO:cjm] synonym: "Zimmerman Laband syndrome" RELATED [GARD:0000385] synonym: "Zimmermann-Laband syndrome 1" RELATED [MONDO:Lexical, OMIM:135500] synonym: "Zimmermann-Laband syndrome type 1" EXACT [MONDORULE:1, OMIM:135500] synonym: "ZLS" RELATED ABBREVIATION [GARD:0000385] synonym: "ZLS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:135500] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536725 {source="MONDO:equivalentTo"} xref: OMIMPS:135500 {source="MONDO:equivalentTo"} xref: Orphanet:3473 {source="MONDO:equivalentTo", source="OMIM:135500"} xref: SCTID:699447001 {source="MONDO:equivalentTo"} xref: UMLS:C0796013 {source="MONDO:equivalentTo", source="OMIM:135500", source="Orphanet:3473"} is_a: EFO:0000508 {source="OMIMPS:135500"} ! genetic disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare property_value: exactMatch http://identifiers.org/mesh/C536725 property_value: exactMatch http://identifiers.org/snomedct/699447001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796013 property_value: exactMatch https://omim.org/phenotypicSeries/PS135500 property_value: exactMatch Orphanet:3473 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:3473"} property_value: excluded_subClassOf MONDO:0015159 {source="Orphanet:3473"} [Term] id: MONDO:0000209 name: prenatal-onset spinal muscular atrophy with congenital bone fractures subset: ordo_disease synonym: "SMABF" EXACT ABBREVIATION [Orphanet:486811] synonym: "spinal muscular atrophy with congenital bone fractures" EXACT [] xref: OMIMPS:616866 {source="MONDO:equivalentTo"} xref: Orphanet:486811 {source="MONDO:equivalentTo"} xref: UMLS:CN238807 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015168 {source="Orphanet:486811"} ! arthrogryposis multiplex congenita is_a: MONDO:0024257 {source="Orphanet:486811"} ! hereditary motor neuron disease relationship: disease_has_feature EFO:0008525 {source="MONDO:cjm"} ! spinal muscular atrophy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN238807 property_value: exactMatch https://omim.org/phenotypicSeries/PS616866 property_value: exactMatch Orphanet:486811 [Term] id: MONDO:0000210 name: thiopurine metabolic disease xref: OMIMPS:610460 {source="MONDO:equivalentTo"} is_a: MONDO:0019052 ! inborn errors of metabolism property_value: exactMatch https://omim.org/phenotypicSeries/PS610460 [Term] id: MONDO:0000211 name: striatal degeneration, autosomal dominant def: "An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity." [Orphanet:228169] comment: See genetic heterogeneity of OMIM 609161 smb. synonym: "ADSD" EXACT ABBREVIATION [Orphanet:228169] synonym: "autosomal dominant striatal neurodegeneration" EXACT [Orphanet:228169] xref: MESH:C563783 {source="MONDO:equivalentTo"} xref: OMIMPS:609161 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:228169 {source="MONDO:equivalentTo"} xref: UMLS:C1836694 {source="MONDO:equivalentTo"} is_a: MONDO:0003122 {source="https://orcid.org/0000-0001-5208-3432"} ! striatonigral degeneration property_value: exactMatch http://identifiers.org/mesh/C563783 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836694 property_value: exactMatch https://omim.org/phenotypicSeries/PS609161 property_value: exactMatch Orphanet:228169 [Term] id: MONDO:0000212 name: hypercalcemia, infantile def: "A hypercalcemia disease that occurs between 28 days to one year of life." [MONDO:design_pattern] subset: ordo_disease {source="Orphanet:300547"} subset: prototype_pattern synonym: "autosomal recessive hypercalcemia, infantile" EXACT [MONDO:design_pattern] synonym: "autosomal recessive infantile hypercalcemia" EXACT [MONDO:0007749] synonym: "familial infantile hypercalcemia with suppressed intact parathyroid hormone" EXACT [Orphanet:300547] synonym: "hypercalcemia disease of infancy" EXACT [MONDO:design_pattern, MONDO:patterns/infantile] synonym: "hypercalcemia, idiopathic, of infancy" EXACT DEPRECATED [OMIM:143880] synonym: "hypercalcemia, infantile" EXACT [OMIM:143880] synonym: "hypercalcemia, infantile, autosomal recessive" EXACT [MONDO:design_pattern, MONDO:patterns/autosomal_recessive] synonym: "idiopathic infantile hypercalcemia" EXACT DEPRECATED [NCIT:C129734] synonym: "infantile hypercalcemia" EXACT [MONDO:cjm] synonym: "infantile hypercalcemia disease" EXACT [MONDO:design_pattern] synonym: "infantile onset hypercalcemia disease" EXACT [MONDO:design_pattern, MONDO:patterns/infantile] xref: MESH:C562999 {source="MONDO:equivalentTo"} xref: NCIT:C129734 {source="MONDO:equivalentTo"} xref: OMIMPS:143880 {source="MONDO:equivalentTo"} xref: Orphanet:300547 {source="MONDO:equivalentTo", source="OMIM:143880"} xref: SCTID:276645004 {source="MONDO:equivalentTo"} xref: SCTID:34225008 {source="MONDO:equivalentTo"} xref: UMLS:C4329374 {source="MONDO:equivalentTo"} xref: UMLS:CN203398 {source="MONDO:equivalentObsolete"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0001566 ! hypercalcemia disease is_a: MONDO:0019052 ! inborn errors of metabolism property_value: exactMatch http://identifiers.org/mesh/C562999 property_value: exactMatch http://identifiers.org/snomedct/276645004 property_value: exactMatch http://identifiers.org/snomedct/34225008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4329374 property_value: exactMatch https://omim.org/phenotypicSeries/PS143880 property_value: exactMatch NCIT:C129734 property_value: exactMatch Orphanet:300547 property_value: excluded_subClassOf MONDO:0019743 {source="Orphanet:300547"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2926 xsd:anyURI [Term] id: MONDO:0000214 name: hypermanganesemia with dystonia xref: DOID:0080535 {source="MONDO:equivalentTo"} xref: OMIMPS:613280 {source="MONDO:equivalentTo"} xref: SCTID:768553002 {source="MONDO:equivalentTo"} is_a: MONDO:0019052 ! inborn errors of metabolism property_value: exactMatch DOID:0080535 property_value: exactMatch http://identifiers.org/snomedct/768553002 property_value: exactMatch https://omim.org/phenotypicSeries/PS613280 [Term] id: MONDO:0000252 name: inflammatory diarrhea def: "An diarrhea (disease) involving a pathogenic inflammatory response in the intestinal mucosa." [MONDO:patterns/specific_inflammatory_disease_by_site] xref: DOID:0050132 {source="MONDO:equivalentTo"} xref: SCTID:95544006 {source="MONDO:equivalentTo"} is_a: EFO:1001463 ! gastroenteritis is_a: MONDO:0001673 ! diarrheal disease property_value: exactMatch DOID:0050132 property_value: exactMatch http://identifiers.org/snomedct/95544006 [Term] id: MONDO:0000253 name: piedra def: "Either of two diseases resulting from fungal infection of the hair shafts. Black piedra occurs mainly in and on the hairs of the scalp and is caused by Piedraia hortae; white piedra occurs in and on the hairs of the scalp, beard, mustache and genital areas and is caused by Trichosporon species." [MESH:D010854] synonym: "black piedra" NARROW [MESH:D010854] synonym: "black Piedras" NARROW [MESH:D010854] synonym: "hair shaft fungal infectious disease" EXACT [MONDO:patterns/location] synonym: "piedra, black" NARROW [MESH:D010854] synonym: "piedra, White" NARROW [MESH:D010854] synonym: "Piedras" RELATED [MESH:D010854] synonym: "Piedras, black" NARROW [MESH:D010854] synonym: "Piedras, White" NARROW [MESH:D010854] synonym: "steroid-modified tinea infection" NARROW [DOID:0050133] synonym: "White piedra" NARROW [MESH:D010854] synonym: "White Piedras" NARROW [MESH:D010854] xref: MESH:D010854 {source="MONDO:equivalentTo"} xref: SCTID:402135006 {source="MONDO:equivalentTo"} xref: UMLS:C0031898 {source="MONDO:equivalentTo"} is_a: MONDO:0002917 {source="MESH:D010854", source="MONDO:Entailed", source="MONDO:Redundant"} ! disorder of pilosebaceous unit is_a: MONDO:0024268 {source="MONDO:Redundant", source="https://www.ncbi.nlm.nih.gov/books/NBK7902"} ! superficial mycosis is_a: MONDO:0024481 ! skin appendage disorder property_value: exactMatch http://identifiers.org/mesh/D010854 property_value: exactMatch http://identifiers.org/snomedct/402135006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031898 [Term] id: MONDO:0000254 name: cutaneous mycosis def: "A mycosis that involves the integument and its appendages, including hair and nails. Infection may involve the stratum corneum or deeper layers of the epidermis." [https://www.ncbi.nlm.nih.gov/books/NBK7902] xref: DOID:0050134 {source="MONDO:equivalentTo"} xref: SCTID:14560005 {source="MONDO:equivalentTo"} is_a: EFO:0010285 ! integumentary system disease is_a: MONDO:0002041 {source="DOID:0050134", source="MONDO:Redundant"} ! fungal infectious disease relationship: has_characteristic MONDO:0045042 ! restricted to specific location property_value: exactMatch DOID:0050134 property_value: exactMatch http://identifiers.org/snomedct/14560005 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0000255 name: subcutaneous mycosis def: "A mycosis that involves subcutaneous tissue. There are three general types of subcutaneous mycoses: chromoblastomycosis, mycetoma, and sporotrichosis." [https://www.ncbi.nlm.nih.gov/books/NBK7902] synonym: "subcutaneous mycosis" EXACT [] xref: DOID:0050135 {source="MONDO:equivalentTo"} is_a: MONDO:0000254 ! cutaneous mycosis property_value: exactMatch DOID:0050135 [Term] id: MONDO:0000256 name: systemic mycosis def: "A mycosis that involves the lungs, abdominal viscera, bones and or central nervous system." [https://www.ncbi.nlm.nih.gov/books/NBK7902] synonym: "systemic fungal infection" RELATED [MONDO:cjm] xref: DOID:0050136 {source="MONDO:equivalentTo"} xref: ICD9:117.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:399314004 {source="MONDO:equivalentTo"} xref: UMLS:C0553576 {source="MONDO:equivalentTo"} is_a: MONDO:0002041 {source="DOID:0050136", source="MONDO:Redundant"} ! fungal infectious disease intersection_of: MONDO:0002041 ! fungal infectious disease intersection_of: has_characteristic MONDO:0022202 ! disseminated relationship: has_characteristic MONDO:0022202 ! disseminated property_value: exactMatch DOID:0050136 property_value: exactMatch http://identifiers.org/snomedct/399314004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0553576 [Term] id: MONDO:0000257 name: acute diarrhea def: "Acute form of diarrhea." [MONDO:patterns/acute] synonym: "acute diarrheal disease" EXACT [MONDO:design_pattern] synonym: "diarrhea (disease), acute" EXACT [MONDO:patterns/acute] synonym: "diarrhea, acute" EXACT [MONDO:patterns/acute] synonym: "diarrheal disease, acute" EXACT [MONDO:design_pattern, MONDO:patterns/acute] synonym: "diarrhoea (disease), acute" EXACT OMO:0003005 [] xref: DOID:0050140 {source="MONDO:equivalentTo"} xref: SCTID:409966000 {source="MONDO:equivalentTo"} xref: UMLS:C0740441 {source="MONDO:equivalentTo"} is_a: MONDO:0001673 {source="DOID:0050140", source="MONDO:Redundant"} ! diarrheal disease is_a: MONDO:0020683 ! acute disease property_value: exactMatch DOID:0050140 property_value: exactMatch http://identifiers.org/snomedct/409966000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0740441 [Term] id: MONDO:0000263 name: laryngotracheitis def: "An inflammation of both larynx and trachea." [MONDO:patterns] xref: DOID:0050148 {source="MONDO:equivalentTo"} xref: ICD9:464 {source="DOID:0050148"} xref: ICD9:464.2 {source="DOID:0050148"} xref: ICD9:476.1 {source="DOID:0050148"} xref: SCTID:55130001 {source="UMLS:C0023076", source="MONDO:equivalentTo"} xref: UMLS:C0023076 {source="MONDO:equivalentTo"} is_a: EFO:0007518 ! tracheitis is_a: MONDO:0002647 ! laryngitis property_value: exactMatch DOID:0050148 property_value: exactMatch http://identifiers.org/snomedct/55130001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023076 [Term] id: MONDO:0000271 name: tuberculous salpingitis def: "An urogenital tuberculosis involving a pathogenic inflammatory response in the fallopian tube." [MONDO:patterns/specific_inflammatory_disease_by_site] synonym: "fallopian tube tuberculosis" RELATED [MONDO:cjm] xref: DOID:0050166 {source="MONDO:equivalentTo"} xref: ICD9:016.6 {source="DOID:0050166"} xref: ICD9:016.60 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:49558004 {source="MONDO:equivalentTo"} xref: UMLS:C0275933 {source="MONDO:equivalentTo"} is_a: EFO:0007531 {source="DOID:0050166", source="MONDO:Redundant"} ! urogenital tuberculosis is_a: MONDO:0003619 {source="MONDO:Redundant"} ! salpingitis property_value: exactMatch DOID:0050166 property_value: exactMatch http://identifiers.org/snomedct/49558004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0275933 [Term] id: MONDO:0000307 name: parasitic Ichthyosporea infectious disease def: "A disease caused by infection with Ichthyosporea." [MONDO:patterns/infectious_disease_by_agent] synonym: "Ichthyosporea caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Ichthyosporea disease or disorder" EXACT [] synonym: "Ichthyosporea infectious disease" EXACT [] xref: DOID:0050291 {source="MONDO:equivalentTo"} is_a: EFO:0001067 {source="DOID:0050291"} ! parasitic infection property_value: exactMatch DOID:0050291 [Term] id: MONDO:0000308 name: primary systemic mycosis def: "A systemic mycosis that arises from infection in an immunologically normal host." [https://www.ncbi.nlm.nih.gov/books/NBK7902] xref: DOID:0050292 {source="MONDO:equivalentTo"} is_a: MONDO:0000256 {source="DOID:0050292", source="MONDO:Redundant"} ! systemic mycosis intersection_of: MONDO:0000256 ! systemic mycosis intersection_of: has_characteristic MONDO:0045036 ! primary infectious disjoint_from: MONDO:0002312 ! opportunistic mycosis relationship: has_characteristic MONDO:0045036 ! primary infectious property_value: exactMatch DOID:0050292 [Term] id: MONDO:0000314 name: primary bacterial infectious disease xref: DOID:0050338 {source="MONDO:equivalentTo"} is_a: EFO:0000771 {source="DOID:0050338", source="MONDO:Redundant"} ! bacterial disease intersection_of: EFO:0000771 ! bacterial disease intersection_of: has_characteristic MONDO:0045036 ! primary infectious relationship: has_characteristic MONDO:0045036 ! primary infectious property_value: exactMatch DOID:0050338 [Term] id: MONDO:0000315 name: commensal bacterial infectious disease def: "A bacterial infectious disease that results in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder." [DOID:0050339, http://books.google.com/books?id=mgmataMQjMwC&pg=PA388&lpg#v=onepage&q&f=false] synonym: "opportunistic bacterial infectious disease" RELATED [] xref: DOID:0050339 {source="MONDO:equivalentTo"} is_a: EFO:0000771 {source="DOID:0050339"} ! bacterial disease property_value: exactMatch DOID:0050339 [Term] id: MONDO:0000316 name: opportunistic bacterial infectious disease xref: DOID:0050340 {source="MONDO:equivalentTo"} is_a: EFO:0000771 {source="DOID:0050340", source="MONDO:Redundant"} ! bacterial disease intersection_of: EFO:0000771 ! bacterial disease intersection_of: has_characteristic MONDO:0045035 ! opportunistic infectious relationship: has_characteristic MONDO:0045035 ! opportunistic infectious property_value: exactMatch DOID:0050340 [Term] id: MONDO:0000327 name: Buruli ulcer disease def: "A cutaneous infection caused by Mycobacterium ulcerans. It presents with painless nodular swelling of the skin, leading to the formation of necrotizing ulcers." [NCIT:P378] synonym: "Bairnsdale ulcer" EXACT [DOID:0050456] synonym: "Buruli ulcer" EXACT [NCIT:C84604] synonym: "Daintree ulcer" EXACT [DOID:0050456] synonym: "Mossman ulcer" EXACT [DOID:0050456] synonym: "Mycobacterium ulcerans caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Mycobacterium ulcerans disease or disorder" EXACT [] synonym: "Mycobacterium ulcerans infectious disease" EXACT [] synonym: "Searl ulcer" EXACT [DOID:0050456] synonym: "Searle's ulcer" EXACT [DOID:0050456] xref: DOID:0050456 {source="MONDO:equivalentTo"} xref: EFO:1001281 {source="MONDO:equivalentTo"} xref: MESH:D054312 {source="DOID:0050456", source="MONDO:equivalentTo"} xref: NCIT:C84604 {source="DOID:0050456", source="MONDO:equivalentTo"} xref: SCTID:15845006 {source="DOID:0050456", source="MONDO:equivalentTo"} xref: UMLS:C0085568 {source="DOID:0050456", source="NCIT:C84604", source="MONDO:equivalentTo"} is_a: MONDO:0000314 {source="DOID:0050456"} ! primary bacterial infectious disease is_a: MONDO:0020590 ! mycobacterial infectious disease property_value: exactMatch DOID:0050456 property_value: exactMatch DOID:0050456 property_value: exactMatch http://identifiers.org/mesh/D054312 property_value: exactMatch http://identifiers.org/mesh/D054312 property_value: exactMatch http://identifiers.org/snomedct/15845006 property_value: exactMatch http://identifiers.org/snomedct/15845006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085568 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085568 property_value: exactMatch NCIT:C84604 property_value: exactMatch NCIT:C84604 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0000334 name: multinodular goiter def: "Nodular goiter characterized by more than one discrete tissue mass." [NCIT:C131438] synonym: "goiter, multinodular" EXACT [OMIMPS:138800] xref: DOID:0050489 {source="MONDO:equivalentTo"} xref: NCIT:C131438 {source="MONDO:equivalentTo"} xref: OMIMPS:138800 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: SCTID:237570007 {source="MONDO:equivalentTo"} xref: UMLS:C0342208 {source="NCIT:C131438", source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:1001062 {source="NCIT:C131438"} ! nodular goiter property_value: exactMatch DOID:0050489 property_value: exactMatch http://identifiers.org/snomedct/237570007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342208 property_value: exactMatch https://omim.org/phenotypicSeries/PS138800 property_value: exactMatch NCIT:C131438 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0000341 name: paralytic poliomyelitis def: "A poliomyelitis that results in destruction located in motor neurons of central nervous system, has material basis in Human poliovirus 1, has material basis in Human poliovirus 2, or has material basis in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis." [DOID:0050515, http://www.brown.edu/Courses/Bio_160/Projects2000/Polio/Neuropathology.html, http://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms] xref: DOID:0050515 {source="MONDO:equivalentTo"} is_a: EFO:0007450 {source="DOID:0050515", source="MONDO:Redundant"} ! poliomyelitis property_value: exactMatch DOID:0050515 [Term] id: MONDO:0000351 name: disorder of methionine catabolism def: "An inherited metabolic disease that is has its basis in the disruption of methionine catabolic process." [MONDO:patterns/inborn_metabolic] synonym: "hypermethioninemia" EXACT [MONDO:ambiguous] synonym: "inborn error of methionine catabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn methionine catabolic process disorder" EXACT [] synonym: "rare inborn error of methionine catabolic process" EXACT [MONDO:patterns/inborn_metabolic] xref: DOID:0050544 {source="MONDO:equivalentTo"} xref: HP:0003235 {source="MONDO:otherHierarchy"} xref: SCTID:43123004 {source="MONDO:equivalentTo"} xref: UMLS:C4048705 {source="MONDO:equivalentTo"} is_a: MONDO:0004736 {source="DOID:0050544"} ! inborn disorder of amino acid metabolism is_a: MONDO:0019222 {source="MONDO:Redundant"} ! inborn disorder of methionine cycle and sulfur amino acid metabolism is_a: MONDO:0037938 ! inborn disorder of aspartate family metabolism property_value: exactMatch DOID:0050544 property_value: exactMatch http://identifiers.org/snomedct/43123004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4048705 [Term] id: MONDO:0000355 name: Ullrich congenital muscular dystrophy def: "Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence." [Orphanet:75840] subset: gard_rare subset: ordo_disease {source="Orphanet:75840"} synonym: "congenital muscular dystrophy, Ullrich type" RELATED [Orphanet:75840] synonym: "late onset scleroatonic familial myopathy (subtype)" RELATED [GARD:0004769] synonym: "scleroatonic muscular dystrophy" EXACT [Orphanet:75840] synonym: "scleroatonic Ullrich disease" EXACT [NCIT:C123438] synonym: "UCMD" EXACT ABBREVIATION [GARD:0004769, Orphanet:75840] synonym: "Ullrich disease" RELATED [DOID:0050558, https://www.ncbi.nlm.nih.gov/gtr/conditions/C0410179/] synonym: "Ullrich scleroatonic muscular dystrophy" EXACT [DOID:0050558] xref: DOID:0050558 {source="MONDO:equivalentTo"} xref: MESH:C537521 {source="MONDO:equivalentTo"} xref: NCIT:C123438 {source="MONDO:equivalentTo"} xref: OMIMPS:254090 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:75840 {source="GARD:0004769", source="MONDO:equivalentTo", source="OMIM:254090"} xref: SCTID:240062007 {source="MONDO:equivalentTo"} xref: UMLS:C0410179 {source="Orphanet:75840", source="GARD:0004769", source="MONDO:equivalentTo", source="OMIM:254090", source="NCIT:C123438"} is_a: MONDO:0019950 {source="DOID:0050558", source="Orphanet:75840"} ! congenital muscular dystrophy is_a: MONDO:0019952 {source="https://orcid.org/0000-0002-0736-9199"} ! congenital myopathy property_value: exactMatch DOID:0050558 property_value: exactMatch http://identifiers.org/mesh/C537521 property_value: exactMatch http://identifiers.org/snomedct/240062007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0410179 property_value: exactMatch https://omim.org/phenotypicSeries/PS254090 property_value: exactMatch NCIT:C123438 property_value: exactMatch Orphanet:75840 [Term] id: MONDO:0000358 name: orofacial cleft comment: Editor notes: most subtypes are isolated subset: clingen xref: DOID:0050567 {source="MONDO:equivalentTo"} xref: OMIMPS:119530 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: SCTID:449790007 {source="MONDO:equivalentTo"} xref: UMLS:CN221583 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0023369 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of facial skeleton property_value: exactMatch DOID:0050567 property_value: exactMatch http://identifiers.org/snomedct/449790007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN221583 property_value: exactMatch https://omim.org/phenotypicSeries/PS119530 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0000359 name: spondylocostal dysostosis def: "Spondylocostal dysplasia is a rare genetic disorder characterized by defects of the bones of the spine (vertebrae) and abnormalities of the ribs. Ribs can be fused or missing in chaotic patterns. These malformations are present at birth (congenital)." [https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/] comment: Most times, spondylocostal dysplasia is inherited in an autosomal recessive manner and is caused by a change (mutation) in one of four genes, DLL3, MESP2, LFNG, HES7. Rarely, spondylocostal dysplasia can be inherited in an autosomal dominant manner. One gene, TBX6, is known to cause autosomal dominant spondylocostal dysplasia. There is significant confusion in the medical literature regarding names for spondylocostal dysplasia. For years, this disorder and a similar disorder, spondylothoracic dysplasia, were considered the same disorder and referred to as Jarcho-Levin syndrome. Researchers now know that these disorders are separate entities with different causes and associated malformations. {source="https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/"} synonym: "costovertebral dysplasia" EXACT [https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/] synonym: "Jarcho-Levin syndrome" RELATED DEPRECATED [DOID:0050568, https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/] synonym: "SCD" RELATED ABBREVIATION [https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/] synonym: "SCDO" RELATED ABBREVIATION [https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/] synonym: "spondylocostal dysostosis" EXACT [https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/] synonym: "spondylocostal dysplasia" EXACT [https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/] xref: DOID:0050568 {source="MONDO:equivalentTo"} xref: MESH:C537565 {source="MONDO:equivalentTo"} xref: NCIT:C125598 {source="MONDO:equivalentTo"} xref: OMIMPS:277300 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:1797 {source="MONDO:relatedTo", source="DOID:0050568"} xref: UMLS:CN201467 {source="MONDO:equivalentTo"} is_a: MONDO:0000812 ! vertebral column disorder is_a: MONDO:0018454 ! dysostosis of genetic origin property_value: exactMatch DOID:0050568 property_value: exactMatch http://identifiers.org/mesh/C537565 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201467 property_value: exactMatch https://omim.org/phenotypicSeries/PS277300 property_value: exactMatch NCIT:C125598 [Term] id: MONDO:0000365 name: primary congenital glaucoma def: "Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab's striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated individuals, blindness invariably occurs." [https://www.ncbi.nlm.nih.gov/books/NBK1135/] synonym: "primary congenital glaucoma" EXACT [MONDO:ambiguous] synonym: "primary congenital glaucoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0050593 {source="MONDO:equivalentTo"} xref: HP:0008007 {source="MONDO:otherHierarchy"} xref: NCIT:C150251 {source="MONDO:equivalentTo"} xref: SCTID:415176004 {source="MONDO:equivalentTo"} xref: UMLS:C1533041 {source="MONDO:equivalentTo"} xref: UMLS:C3888011 {source="MONDO:equivalentTo"} is_a: MONDO:0020366 {source="MONDO:cjm", source="NCIT:C150251"} ! congenital glaucoma property_value: exactMatch DOID:0050593 property_value: exactMatch http://identifiers.org/snomedct/415176004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1533041 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888011 property_value: exactMatch NCIT:C150251 property_value: IAO:0000589 "primary congenital glaucoma (disease)" xsd:string [Term] id: MONDO:0000368 name: extrapulmonary tuberculosis def: "A tuberculosis that occurs at body sites other than the lung." [DOID:0050598, http://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf] xref: DOID:0050598 {source="MONDO:equivalentTo"} xref: SCTID:423997002 {source="MONDO:equivalentTo"} xref: UMLS:C0679362 {source="MONDO:equivalentTo"} is_a: MONDO:0018076 {source="DOID:0050598"} ! tuberculosis disjoint_from: EFO:1000049 ! pulmonary tuberculosis property_value: exactMatch DOID:0050598 property_value: exactMatch http://identifiers.org/snomedct/423997002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0679362 [Term] id: MONDO:0000369 name: abdominal tuberculosis def: "An extrapulmonary tuberculosis that is located in gastrointestinal tract, located in peritoneum, located in omentum, located in mesentery, located in liver, located in spleen or located in pancreas." [DOID:0050599, http://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf] synonym: "tuberculosis of abdomen" EXACT [] xref: DOID:0050599 {source="MONDO:equivalentTo"} xref: ICD9:014.80 xref: SCTID:447330002 {source="MONDO:equivalentTo"} xref: UMLS:C0740652 {source="MONDO:equivalentTo"} is_a: MONDO:0000368 {source="DOID:0050599"} ! extrapulmonary tuberculosis property_value: exactMatch DOID:0050599 property_value: exactMatch http://identifiers.org/snomedct/447330002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0740652 [Term] id: MONDO:0000376 name: respiratory system cancer def: "A malignant neoplasm involving the respiratory system" [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of respiratory system" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of respiratory system" EXACT [MONDO:patterns/cancer] synonym: "malignant respiratory system neoplasm" EXACT [MONDO:patterns/cancer] synonym: "respiratory system cancer" EXACT [MONDO:patterns/location] xref: DOID:0050615 {source="MONDO:equivalentTo"} xref: ICD9:165.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:165.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:449096009 {source="MONDO:equivalentTo"} xref: UMLS:C3164456 {source="MONDO:equivalentTo"} is_a: EFO:0000684 {source="DOID:0050615", source="MONDO:Redundant"} ! respiratory system disease is_a: MONDO:0004992 {source="DOID:0050615", source="DOID:0050615/inferred", source="MONDO:Redundant"} ! cancer property_value: exactMatch DOID:0050615 property_value: exactMatch http://identifiers.org/snomedct/449096009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3164456 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0000380 name: paranasal sinus carcinoma def: "A malignant epithelial neoplasm arising in the paranasal sinus." [NCIT:C6014] synonym: "accessory sinus cancer" EXACT [NCIT:C6014] synonym: "accessory sinus carcinoma" EXACT [NCIT:C6014] synonym: "adenoid cystic carcinoma of accessory sinus" RELATED [DOID:0050619] synonym: "adenoid cystic carcinoma of paranasal sinus" RELATED [DOID:0050619] synonym: "cancer of paranasal sinus" EXACT [MONDO:patterns/cancer] synonym: "carcinoma of accessory sinus" EXACT [NCIT:C6014] synonym: "carcinoma of paranasal sinus" EXACT [MONDO:patterns/carcinoma, NCIT:C6014] synonym: "carcinoma of the accessory sinus" EXACT [NCIT:C6014] synonym: "carcinoma of the paranasal sinus" EXACT [NCIT:C6014] synonym: "epidermoid carcinoma of the paranasal sinus" RELATED [DOID:0050619] synonym: "malignant neoplasm of paranasal sinus" BROAD [MONDO:patterns/cancer] synonym: "malignant paranasal sinus neoplasm" BROAD [MONDO:patterns/cancer] synonym: "mucoepidermoid carcinoma of accessory sinus" RELATED [DOID:0050619] synonym: "paranasal sinus adenocarcinoma" RELATED [DOID:0050619] synonym: "paranasal sinus adenoid cystic carcinoma" RELATED [DOID:0050619] synonym: "paranasal sinus cancer" BROAD [MONDO:patterns/location, NCIT:C6014] synonym: "paranasal sinus carcinoma" EXACT [NCIT:C6014] synonym: "paranasal sinus mucoepidermoid carcinoma" RELATED [DOID:0050619] synonym: "paranasal sinus squamous cell carcinoma" RELATED [DOID:0050619] synonym: "squamous cell carcinoma of paranasal sinus" RELATED [DOID:0050619] xref: DOID:0050619 {source="MONDO:equivalentTo"} xref: NCIT:C6014 {source="MONDO:equivalentTo", source="DOID:0050619"} xref: NCIT:C6019 {source="MONDO:relatedTo", source="DOID:0050619"} xref: UMLS:C0854995 {source="MONDO:equivalentTo", source="DOID:0050619"} xref: UMLS:C1335337 {source="MONDO:relatedTo", source="DOID:0050619"} is_a: MONDO:0002415 ! bone carcinoma is_a: MONDO:0020669 ! paranasal sinus cancer is_a: MONDO:0056819 {source="NCIT:C6014"} ! nasal cavity and paranasal sinus carcinoma property_value: exactMatch DOID:0050619 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0854995 property_value: exactMatch NCIT:C6014 [Term] id: MONDO:0000382 name: respiratory system benign neoplasm def: "A benign neoplasm that involves the respiratory system." [MONDO:patterns/location] synonym: "respiratory system benign neoplasm" EXACT [MONDO:patterns/location] xref: DOID:0050621 {source="MONDO:equivalentTo"} xref: SCTID:255166003 {source="MONDO:equivalentTo"} xref: UMLS:C0497556 {source="MONDO:equivalentTo"} is_a: EFO:0000684 {source="DOID:0050621", source="MONDO:Redundant"} ! respiratory system disease is_a: EFO:0002422 {source="DOID:0050621", source="DOID:0050621/inferred", source="MONDO:Redundant"} ! benign neoplasm property_value: exactMatch DOID:0050621 property_value: exactMatch http://identifiers.org/snomedct/255166003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0497556 [Term] id: MONDO:0000383 name: benign reproductive system neoplasm def: "A non-metastasizing neoplasm that arises from the male or female reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, uterine corpus leiomyoma, and benign ovarian serous tumor." [NCIT:C7617] synonym: "benign reproductive system neoplasm" EXACT [NCIT:C7617] synonym: "reproductive organ benign neoplasm" EXACT [MONDO:patterns/location] xref: DOID:0050622 {source="MONDO:equivalentTo"} xref: NCIT:C7617 {source="MONDO:equivalentTo"} xref: UMLS:C1332536 {source="MONDO:equivalentTo", source="NCIT:C7617"} is_a: EFO:0002422 {source="DOID:0050622", source="DOID:0050622/inferred", source="MONDO:Redundant"} ! benign neoplasm is_a: EFO:1000051 {source="MONDO:Redundant", source="NCIT:C7617"} ! reproductive system neoplasm property_value: exactMatch DOID:0050622 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332536 property_value: exactMatch NCIT:C7617 [Term] id: MONDO:0000385 name: benign digestive system neoplasm def: "A non-metastasizing neoplasm arising from any part of the digestive system." [NCIT:P378] synonym: "alimentary part of gastrointestinal system benign neoplasm" EXACT [MONDO:patterns/location] synonym: "benign digestive system tumor" EXACT [NCIT:C4787] synonym: "benign digestive system tumour" EXACT OMO:0003005 [] synonym: "benign gastrointestinal neoplasm" EXACT [NCIT:C4787] synonym: "benign gastrointestinal system tumor" EXACT [NCIT:C4787] synonym: "benign gastrointestinal system tumour" EXACT OMO:0003005 [] synonym: "benign gastrointestinal tumor" EXACT [NCIT:C4787] synonym: "benign gastrointestinal tumour" EXACT OMO:0003005 [] synonym: "benign GI neoplasm" EXACT [NCIT:C4787] synonym: "benign GI system neoplasm" EXACT [NCIT:C4787] synonym: "benign GI system tumor" EXACT [NCIT:C4787] synonym: "benign GI system tumour" EXACT OMO:0003005 [] synonym: "benign GI tumor" EXACT [NCIT:C4787] synonym: "benign GI tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of digestive system" EXACT [NCIT:C4787] synonym: "benign neoplasm of gastrointestinal system" EXACT [NCIT:C4787] synonym: "benign neoplasm of the digestive system" EXACT [NCIT:C4787] synonym: "benign tumor of digestive system" EXACT [NCIT:C4787] synonym: "benign tumor of gastrointestinal system" EXACT [NCIT:C4787] synonym: "benign tumor of GI system" EXACT [NCIT:C4787] synonym: "benign tumor of the digestive system" EXACT [NCIT:C4787] synonym: "benign tumor of the gastrointestinal system" EXACT [NCIT:C4787] synonym: "benign tumor of the GI system" EXACT [NCIT:C4787] synonym: "benign tumour of digestive system" EXACT OMO:0003005 [] synonym: "benign tumour of gastrointestinal system" EXACT OMO:0003005 [] synonym: "benign tumour of GI system" EXACT OMO:0003005 [] synonym: "benign tumour of the digestive system" EXACT OMO:0003005 [] synonym: "benign tumour of the gastrointestinal system" EXACT OMO:0003005 [] synonym: "benign tumour of the GI system" EXACT OMO:0003005 [] synonym: "gastrointestinal system benign neoplasm" RELATED [DOID:0050624] xref: DOID:0050624 {source="MONDO:equivalentTo"} xref: NCIT:C4787 {source="MONDO:equivalentTo"} xref: UMLS:C0497538 {source="MONDO:equivalentTo", source="NCIT:C4787"} is_a: EFO:0000405 {source="DOID:0050624", source="MONDO:Entailed", source="NCIT:C4787/inferred"} ! digestive system disease is_a: EFO:0002422 {source="DOID:0050624", source="DOID:0050624/inferred", source="MONDO:Entailed", source="MONDO:Inferred", source="MONDO:Redundant"} ! benign neoplasm is_a: EFO:0008549 {source="MONDO:Redundant", source="NCIT:C4787"} ! digestive system neoplasm property_value: exactMatch DOID:0050624 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0497538 property_value: exactMatch NCIT:C4787 [Term] id: MONDO:0000386 name: digestive system neuroendocrine tumor, grade 1/2 def: "A well-differentiated neuroendocrine tumor arising from the digestive system. It is characterized by the presence of cells with features similar to those of the normal endocrine cells of the digestive system. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation and hormones. There is mild to moderate nuclear atypia and less than 20 mitoses per 10 HPF. It includes well-differentiated endocrine tumors or carcinoid tumors and well-differentiated endocrine carcinomas." [NCIT:P378] synonym: "alimentary part of gastrointestinal system neuroendocrine tumor" BROAD [MONDO:patterns/location] synonym: "alimentary part of gastrointestinal system neuroendocrine tumour" BROAD OMO:0003005 [] synonym: "digestive system NET" BROAD [NCIT:C95404] synonym: "digestive system neuroendocrine tumor" BROAD [NCIT:C95404] synonym: "digestive system neuroendocrine tumour" BROAD OMO:0003005 [] synonym: "digestive system well differentiated neuroendocrine tumor" BROAD [NCIT:C95404] synonym: "digestive system well differentiated neuroendocrine tumour" BROAD OMO:0003005 [] synonym: "gastroenteropancreatic NET" BROAD [NCIT:C95404] synonym: "gastroenteropancreatic neuroendocrine tumor" BROAD [NCIT:C95404] synonym: "gastroenteropancreatic neuroendocrine tumour" BROAD OMO:0003005 [] synonym: "gastrointestinal NET" BROAD [NCIT:C95404] synonym: "gastrointestinal neuroendocrine tumor" BROAD [NCIT:C95404] synonym: "gastrointestinal neuroendocrine tumors" BROAD [ONCOTREE:GINET] synonym: "gastrointestinal neuroendocrine tumour" BROAD OMO:0003005 [] synonym: "gastrointestinal neuroendocrine tumours" BROAD OMO:0003005 [] synonym: "gastrointestinal system neuroendocrine tumor" BROAD [NCIT:C95404] synonym: "gastrointestinal system neuroendocrine tumour" BROAD OMO:0003005 [] synonym: "GINET" RELATED ABBREVIATION [ONCOTREE:GINET] synonym: "malignant gastrointestinal neuroendocrine tumor" NARROW [DOID:0050626] synonym: "malignant gastrointestinal neuroendocrine tumour" NARROW OMO:0003005 [] xref: DOID:0050626 {source="MONDO:equivalentTo"} xref: NCIT:C95404 {source="MONDO:equivalentTo"} xref: ONCOTREE:GINET {source="MONDO:equivalentTo"} xref: UMLS:C2987127 {source="NCIT:C95404", source="MONDO:equivalentObsolete"} is_a: MONDO:0024503 ! digestive system neuroendocrine neoplasm relationship: has_characteristic MONDO:0024495 ! tumor grade 1 or 2, general grading system property_value: exactMatch DOID:0050626 property_value: exactMatch NCIT:C95404 [Term] id: MONDO:0000387 name: hypochromic microcytic anemia def: "Anemia in which the circulating RBCs are smaller than the usual size of RBCs (microcytic) and have decreased red color (hypochromic)." [https://www.ncbi.nlm.nih.gov/books/NBK470252/, MONDO:cjm] synonym: "hypochromic microcytic anaemia (disease)" EXACT OMO:0003005 [] synonym: "hypochromic microcytic anemia" EXACT [MONDO:ambiguous] synonym: "hypochromic microcytic anemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0050642 {source="MONDO:equivalentTo"} xref: HP:0004840 {source="MONDO:otherHierarchy"} xref: MESH:C536357 {source="MONDO:equivalentTo"} xref: SCTID:44666001 {source="MONDO:equivalentTo"} xref: UMLS:C0271901 {source="MONDO:equivalentTo"} is_a: MONDO:0001245 {source="DOID:0050642", source="HP:0004840"} ! microcytic anemia is_a: MONDO:0001357 {source="HP:0004840"} ! hypochromic anemia property_value: exactMatch DOID:0050642 property_value: exactMatch http://identifiers.org/mesh/C536357 property_value: exactMatch http://identifiers.org/snomedct/44666001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271901 property_value: IAO:0000589 "hypochromic microcytic anemia (disease)" xsd:string [Term] id: MONDO:0000389 name: atelosteogenesis xref: DOID:0050648 {source="MONDO:equivalentTo"} xref: OMIMPS:108720 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: SCTID:43814000 {source="MONDO:equivalentTo"} xref: UMLS:CN163181 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0005571 {source="DOID:0050648"} ! osteochondrodysplasia property_value: exactMatch DOID:0050648 property_value: exactMatch http://identifiers.org/snomedct/43814000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN163181 property_value: exactMatch https://omim.org/phenotypicSeries/PS108720 [Term] id: MONDO:0000390 name: vitelliform macular dystrophy def: "A rare genetic disorder characterized by macular degeneration in the retina resulting in progressive loss of central vision with retention of the peripheral vision." [NCIT:C118788] synonym: "macular dystrophy, vitelliform" EXACT [OMIMPS:153840] synonym: "vitelliform macular dystrophy" EXACT [NCIT:C118788] xref: DOID:0050661 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.5 {source="DOID:0050661", source="MONDO:relatedTo"} xref: MESH:D057826 {source="MONDO:equivalentTo"} xref: NCIT:C118788 {source="MONDO:equivalentTo"} xref: OMIMPS:153840 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: SCTID:90036004 {source="MONDO:equivalentTo"} xref: UMLS:C0339510 {source="MONDO:equivalentTo", source="NCIT:C118788"} is_a: EFO:0009606 {source="DOID:0050661"} ! macular degeneration is_a: MONDO:0020242 {source="NCIT:C118788"} ! hereditary macular dystrophy property_value: exactMatch DOID:0050661 property_value: exactMatch http://identifiers.org/mesh/D057826 property_value: exactMatch http://identifiers.org/snomedct/90036004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339510 property_value: exactMatch https://omim.org/phenotypicSeries/PS153840 property_value: exactMatch NCIT:C118788 [Term] id: MONDO:0000396 name: spastic cerebral palsy def: "A form of cerebral palsy wherein spasticity is the exclusive impairment present." [Wikipedia:Spastic_cerebral_palsy] synonym: "hypertonic cerebral palsy" RELATED [Wikipedia:Spastic_cerebral_palsy] xref: DOID:0050669 {source="MONDO:equivalentTo"} xref: ICD9:344.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C116903 {source="MONDO:equivalentTo"} xref: SCTID:230773005 {source="MONDO:equivalentTo"} xref: UMLS:C0338596 {source="MONDO:equivalentTo", source="NCIT:C116903"} is_a: EFO:1000632 {source="DOID:0050669", source="NCIT:C116903"} ! cerebral palsy property_value: exactMatch DOID:0050669 property_value: exactMatch http://identifiers.org/snomedct/230773005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0338596 property_value: exactMatch NCIT:C116903 [Term] id: MONDO:0000411 name: electroclinical syndrome def: "An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep." [DOID:0050701, http://www.ice-epilepsy.org/new-ice-terminology-from-ilae.html, http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267655/table/T1/, PMID:20196795] synonym: "electro-clinical syndrome" EXACT [DOID:0050701] xref: DOID:0050701 {source="MONDO:equivalentTo"} is_a: EFO:0000474 {source="DOID:0050701"} ! epilepsy property_value: exactMatch DOID:0050701 [Term] id: MONDO:0000412 name: neonatal period electroclinical syndrome def: "An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age." [DOID:0050702, PMID:20196795, PMID:22182677] comment: Editor notes: See https://github.com/monarch-initiative/mondo-build/issues/29 xref: DOID:0050702 {source="MONDO:equivalentTo"} is_a: MONDO:0000411 {source="DOID:0050702"} ! electroclinical syndrome property_value: exactMatch DOID:0050702 [Term] id: MONDO:0000413 name: infancy electroclinical syndrome def: "An electroclinical syndrome with onset in infancy occurring between birth and one year of age." [DOID:0050703, PMID:20196795] xref: DOID:0050703 {source="MONDO:equivalentTo"} is_a: MONDO:0000411 {source="DOID:0050703"} ! electroclinical syndrome property_value: exactMatch DOID:0050703 [Term] id: MONDO:0000414 name: childhood electroclinical syndrome def: "A electroclinical syndrome that occurs during childhood." [MONDO:design_pattern] synonym: "electroclinical syndrome of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "paediatric electroclinical syndrome" EXACT OMO:0003005 [] synonym: "pediatric electroclinical syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] xref: DOID:0050704 {source="MONDO:equivalentTo"} is_a: MONDO:0000411 {source="DOID:0050704", source="MONDO:Redundant"} ! electroclinical syndrome property_value: exactMatch DOID:0050704 [Term] id: MONDO:0000415 name: adolescence-adult electroclinical syndrome def: "An electroclinical syndrome with onset in adolescence and adulthood." [DOID:0050705, PMID:20196795] xref: DOID:0050705 {source="MONDO:equivalentTo"} is_a: MONDO:0000411 {source="DOID:0050705"} ! electroclinical syndrome property_value: exactMatch DOID:0050705 [Term] id: MONDO:0000421 name: inborn serine deficiency def: "An inherited metabolic disease that is has its basis in the disruption of L-serine biosynthetic process." [MONDO:patterns/inborn_metabolic] synonym: "inborn error of L-serine biosynthetic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn L-serine biosynthetic process disorder" EXACT [] synonym: "rare inborn error of L-serine biosynthetic process" EXACT [MONDO:patterns/inborn_metabolic] xref: DOID:0050721 {source="MONDO:equivalentTo"} is_a: MONDO:0019239 ! inborn disorder of serine family metabolism property_value: exactMatch DOID:0050721 [Term] id: MONDO:0000424 name: inborn vitamin B12 deficiency def: "Low serum levels of vitamin B12 (cobalamin) due to poor intestinal absorption, decreased dietary intake, or increased physiologic requirement." [NCIT:C131684] synonym: "cobalamin deficiency" BROAD [DOID:0050731] synonym: "hypocobalaminemia" BROAD [DOID:0050731] synonym: "inborn cobalamin metabolic process disorder" EXACT [] synonym: "inborn error of cobalamin metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn vitamin B12 deficiency (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "rare inborn error of cobalamin metabolic process" EXACT [MONDO:patterns/inborn_metabolic] xref: DOID:0050731 {source="MONDO:equivalentTo"} xref: EFO:0000734 {source="MONDO:equivalentTo"} is_a: EFO:0000734 ! vitamin B12 deficiency is_a: EFO:0005596 {source="HP:0100502", source="MONDO:Entailed", source="MONDO:Redundant"} ! vitamin metabolic disorder property_value: exactMatch DOID:0050731 property_value: IAO:0000589 "inborn vitamin B12 deficiency (disease)" xsd:string [Term] id: MONDO:0000425 name: X-linked disease def: "X-linked form of disease." [MONDO:patterns/x_linked] synonym: "disease or disorder, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "disease, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "disease, X-linked genetic" RELATED [MESH:D040181] synonym: "diseases, X-linked genetic" RELATED [MESH:D040181] synonym: "genetic disease, X-linked" RELATED [MESH:D040181] synonym: "genetic diseases, X chromosome linked" RELATED [MESH:D040181] synonym: "genetic diseases, X linked" RELATED [MESH:D040181] synonym: "genetic diseases, X-chromosome linked" RELATED [MESH:D040181] synonym: "X linked genetic diseases" RELATED [MESH:D040181] synonym: "X-linked disease or disorder" EXACT [MONDO:design_pattern] synonym: "X-linked genetic disease" RELATED [MESH:D040181] synonym: "X-linked genetic diseases" RELATED [MESH:D040181] synonym: "X-linked hereditary disease" EXACT [] synonym: "X-linked hereditary disorder" EXACT [] synonym: "X-linked inherited disease" EXACT [] synonym: "X-linked inherited disorder" EXACT [] xref: DOID:0050735 {source="MONDO:equivalentTo"} xref: ICD9:799.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D040181 {source="MONDO:equivalentTo"} xref: NCIT:C85865 {source="MONDO:equivalentTo"} xref: SCTID:128430005 {source="MONDO:equivalentTo"} xref: UMLS:C1138434 {source="MONDO:equivalentTo"} xref: UMLS:C2828000 {source="NCIT:C85865", source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="DOID:0050735/inferred", source="MESH:D040181", source="MONDO:Redundant", source="NCIT:C85865"} ! genetic disorder disjoint_from: EFO:1000017 ! autosomal recessive disease disjoint_from: MONDO:0000426 ! autosomal dominant disease property_value: exactMatch DOID:0050735 property_value: exactMatch http://identifiers.org/mesh/D040181 property_value: exactMatch http://identifiers.org/snomedct/128430005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1138434 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2828000 property_value: exactMatch NCIT:C85865 [Term] id: MONDO:0000426 name: autosomal dominant disease def: "Autosomal dominant form of disease." [MONDO:patterns/autosomal_dominant] synonym: "autosomal dominant disease or disorder" EXACT [MONDO:design_pattern] synonym: "autosomal dominant hereditary disorder" EXACT [] synonym: "autosomal dominant inherited disorder" EXACT [] synonym: "disease or disorder, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] synonym: "disease, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: DOID:0050736 {source="MONDO:equivalentTo"} xref: ICD9:758.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:11164009 {source="MONDO:equivalentTo"} xref: UMLS:C0265385 {source="MONDO:equivalentTo"} is_a: MONDO:0000429 {source="DOID:0050736"} ! autosomal genetic disease disjoint_from: EFO:1000017 ! autosomal recessive disease property_value: exactMatch DOID:0050736 property_value: exactMatch http://identifiers.org/snomedct/11164009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265385 [Term] id: MONDO:0000429 name: autosomal genetic disease def: "A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes." [DOID:0050739, http://ghr.nlm.nih.gov/glossary=autosomaldominant, http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns] synonym: "autosomal hereditary disorder" EXACT [] synonym: "autosomal inherited disease" EXACT [] synonym: "autosomal inherited disorder" EXACT [] xref: DOID:0050739 {source="MONDO:equivalentTo"} xref: ICD9:758.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:1899006 {source="MONDO:equivalentTo"} xref: UMLS:C0265384 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/1758"} ! genetic disorder property_value: exactMatch DOID:0050739 property_value: exactMatch http://identifiers.org/snomedct/1899006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265384 [Term] id: MONDO:0000430 name: mature T-cell and NK-cell non-Hodgkin lymphoma def: "This type of lymphoma is not frequently seen in the western hemisphere. Clinically, with the exception of anaplastic large cell lymphoma, mature T- and NK-cell lymphomas are among the most aggressive of all hematopoietic neoplasms. Representative disease entities include mycosis fungoides, angioimmunoblastic T-cell lymphoma, hepatosplenic T-cell lymphoma, and anaplastic large cell lymphoma." [NCIT:C3468] subset: gard_rare {source="GARD:0007368"} synonym: "mature T-and NK-cell lymphoma" EXACT [NCIT:C3468] synonym: "mature T-cell and natural killer cell lymphoma" RELATED [DOID:0050743] synonym: "mature T-cell and NK-cell lymphoma" EXACT [NCIT:C3468] synonym: "mature T-cell and NK-cell non-Hodgkin lymphoma" EXACT [NCIT:C3468] synonym: "mature T-cell and NK-cell non-Hodgkin's lymphoma" EXACT [NCIT:C3468] synonym: "mature T-cell lymphoma" EXACT [NCIT:C3468] synonym: "mature T-cell non-Hodgkin's lymphoma" EXACT [NCIT:C3468] synonym: "NK-T cell lymphoma" RELATED [DOID:0050743] synonym: "peripheral T-cell lymphoma" EXACT [MONDO:0000434, NCIT:C3468] synonym: "PTCL" EXACT ABBREVIATION [NCIT:C3468] xref: DOID:0050743 {source="MONDO:equivalentTo"} xref: DOID:0050749 {source="MONDO:equivalentTo"} xref: ICD10CM:C84.4 {source="MONDO:equivalentTo"} xref: ICDO:9702/3 {source="NCIT:C3468"} xref: MESH:D016411 {source="MONDO:equivalentTo"} xref: NCIT:C3468 {source="MONDO:equivalentTo"} xref: SCTID:109977009 {source="MONDO:equivalentTo"} is_a: EFO:0002426 {source="MONDO:Redundant", source="NCIT:C3468"} ! neoplasm of mature T-cells or NK-cells is_a: MONDO:0015760 {source="MESH:D016411", source="MONDO:Redundant", source="NCIT:C3468"} ! T-cell non-Hodgkin lymphoma intersection_of: EFO:0002426 {source="NCIT:C3468"} ! neoplasm of mature T-cells or NK-cells intersection_of: MONDO:0015760 {source="NCIT:C3468"} ! T-cell non-Hodgkin lymphoma property_value: exactMatch DOID:0050743 property_value: exactMatch DOID:0050749 property_value: exactMatch http://identifiers.org/mesh/D016411 property_value: exactMatch http://identifiers.org/snomedct/109977009 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/C84.4 property_value: exactMatch NCIT:C3468 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7368/peripheral-t-cell-lymphoma xsd:anyURI {source="GARD:0007368"} [Term] id: MONDO:0000432 name: lymphoplasmacytic lymphoma def: "A clonal neoplasm of small B-lymphocytes, lymphoplasmacytoid cells, and plasma cells involving the bone marrow, lymph nodes, and the spleen. The majority of patients have a serum IgM paraprotein." [NCIT:P378] synonym: "Immunocytoma, lymphoplasmacytic type" EXACT [NCIT:C3212] synonym: "lymphoma, lymphoplasmacytic, malignant" EXACT [NCIT:C3212] synonym: "lymphoma, plasmacytic" EXACT [NCIT:C3212] synonym: "lymphoplasmacytic lymphoma" EXACT [NCIT:C3212] synonym: "lymphoplasmacytic lymphoma (Waldenstrom macroglobulinemia)" EXACT [NCIT:C3212] synonym: "lymphoplasmacytoid lymphoma" EXACT [NCIT:C3212] xref: DOID:0050747 {source="MONDO:equivalentObsolete"} xref: ICD9:273.3 {source="MONDO:relatedTo", source="DOID:0050747"} xref: ICDO:9671/3 {source="NCIT:C3212"} xref: ICDO:9761/3 {source="NCIT:C3212"} xref: NCIT:C3212 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:LPL {source="MONDO:equivalentTo"} xref: SCTID:190817009 {source="MONDO:relatedTo", source="DOID:0050747"} xref: UMLS:C0334633 {source="MONDO:equivalentTo", source="NCIT:C3212"} is_a: MONDO:0004095 {source="DOID:0050747", source="NCIT:C3212/inferred"} ! B-cell neoplasm relationship: disease_has_feature MONDO:0000432 {source="MONDO:Wikidata"} ! lymphoplasmacytic lymphoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334633 property_value: exactMatch NCIT:C3212 [Term] id: MONDO:0000437 name: cerebellar ataxia def: "A neurological syndrome characterized by clumsy and uncoordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways." [https://bestpractice.bmj.com/topics/en-gb/1097] comment: In ORDO this is called rare ataxia, we rename as ataxia since all forms are individually rare subset: disease_grouping subset: mondo_rare {source="https://bestpractice.bmj.com/topics/en-gb/1097"} subset: ordo_group_of_disorders {source="Orphanet:102002"} synonym: "ataxia" RELATED AMBIGUOUS [] synonym: "ataxia syndrome" EXACT [MONDO:0015142] synonym: "ataxia, cerebellar" RELATED [MESH:D002524] synonym: "ataxias, cerebellar" RELATED [MESH:D002524] synonym: "cerebellar Ataxias" RELATED [MESH:D002524] synonym: "cerebellar dysmetria" RELATED [MESH:D002524] synonym: "cerebellar Dysmetrias" RELATED [MESH:D002524] synonym: "rare ataxia" RELATED [Orphanet:102002] synonym: "spinocerebellar ataxia" NARROW [] synonym: "spinocerebellar Degeneration" EXACT [NCIT:C82341] xref: DOID:0050753 {source="MONDO:equivalentTo"} xref: ICD9:334.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D002524 {source="MONDO:equivalentTo"} xref: NCIT:C82341 {source="MONDO:equivalentTo"} xref: Orphanet:102002 {source="MONDO:equivalentTo"} xref: SCTID:85102008 {source="MONDO:equivalentTo"} xref: UMLS:C0087012 {source="MONDO:equivalentTo"} is_a: EFO:0004280 {source="MESH:D002524/inferred", source="https://bestpractice.bmj.com/topics/en-gb/1097"} ! movement disorder is_a: MONDO:0002427 {source="DOID:0050753", source="MESH:D002524"} ! cerebellar disorder is_a: MONDO:0100308 {source="https://orcid.org/0000-0002-0736-9199"} ! atactic disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0020009", source="https://bestpractice.bmj.com/topics/en-gb/1097"} ! rare property_value: exactMatch DOID:0050753 property_value: exactMatch http://identifiers.org/mesh/D002524 property_value: exactMatch http://identifiers.org/snomedct/85102008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0087012 property_value: exactMatch NCIT:C82341 property_value: exactMatch Orphanet:102002 [Term] id: MONDO:0000447 name: autosomal dominant polycystic liver disease def: "An autosomal dominant inherited condition characterized by many cysts of various sizes scattered throughout the liver." [GARD:0009457] synonym: "AD polycystic liver disease" EXACT [https://clinicalgenome.org/working-groups/clinical-domain/clingen-kidney-disease-clinical-domain-working-group/] synonym: "ADPLD" EXACT ABBREVIATION [https://clinicalgenome.org/working-groups/clinical-domain/clingen-kidney-disease-clinical-domain-working-group/] synonym: "congenital cystic liver disease" RELATED [DOID:0050770] synonym: "congenital hepatic cyst" RELATED [DOID:0050770] synonym: "fibrocystic liver disease" RELATED [DOID:0050770] synonym: "isolated congenital polycystic liver disease" EXACT [Orphanet:2924] synonym: "isolated polycystic liver disease" EXACT [Orphanet:2924] synonym: "PCLD" EXACT ABBREVIATION [GARD:0009457] synonym: "polycystic liver disease" EXACT [MONDO:ambiguous] xref: DOID:0050770 {source="MONDO:equivalentTo"} xref: HP:0006557 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q44.6 {source="MONDO:equivalentTo"} xref: ICD9:751.62 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10010427 {source="MONDO:relatedTo"} xref: MedDRA:10048834 {source="MONDO:relatedTo"} xref: MedDRA:10083939 xref: NCIT:C82833 {source="MONDO:equivalentTo"} xref: OMIMPS:174050 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:2924 {source="MONDO:equivalentTo"} xref: SCTID:72925005 {source="MONDO:equivalentTo"} xref: UMLS:C0158683 {source="NCIT:C82833", source="MONDO:equivalentTo"} is_a: EFO:0001421 {source="MONDO:cjm"} ! liver disease is_a: MONDO:0000426 {source="DOID:0050770", source="OMIMPS:174050"} ! autosomal dominant disease property_value: exactMatch DOID:0050770 property_value: exactMatch http://identifiers.org/snomedct/72925005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0158683 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q44.6 property_value: exactMatch https://omim.org/phenotypicSeries/PS174050 property_value: exactMatch NCIT:C82833 property_value: exactMatch Orphanet:2924 property_value: relatedMatch http://identifiers.org/meddra/10010427 property_value: relatedMatch http://identifiers.org/meddra/10048834 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9457/polycystic-liver-disease xsd:anyURI {source="GARD:0009457"} [Term] id: MONDO:0000453 name: short QT syndrome def: "A genetic disease of the electrical system of the heart that consists of a constellation of signs and symptoms, consisting of a short QT interval on an EKG (< 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. Short QT syndrome appears to be inherited in an autosomal dominant pattern, and a few affected families have been identified" [Wikipedia:Short_QT_syndrome] subset: ordo_disease {source="Orphanet:51083"} subset: prototype_pattern synonym: "familial short QT syndrome" RELATED [Orphanet:51083] synonym: "short QT syndrome" EXACT [] synonym: "ventricular arrhythmia associated with short QT syndrome" EXACT [NCIT:C71060] xref: DOID:0050793 {source="MONDO:equivalentTo"} xref: ICD9:426.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C580439 {source="MONDO:equivalentTo"} xref: NCIT:C71060 {source="MONDO:equivalentTo"} xref: OMIMPS:609620 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:51083 {source="MONDO:equivalentTo", source="OMIM:609620"} xref: SCTID:698272007 {source="MONDO:equivalentTo"} xref: UMLS:C2348199 {source="MONDO:equivalentTo", source="NCIT:C71060"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0000992 {source="DOID:0050793"} ! heart conduction disease property_value: exactMatch DOID:0050793 property_value: exactMatch http://identifiers.org/mesh/C580439 property_value: exactMatch http://identifiers.org/snomedct/698272007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2348199 property_value: exactMatch https://omim.org/phenotypicSeries/PS609620 property_value: exactMatch NCIT:C71060 property_value: exactMatch Orphanet:51083 [Term] id: MONDO:0000455 name: cone dystrophy def: "An inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision." [http://en.wikipedia.org/wiki/Cone_dystrophy] subset: ordo_disease {source="Orphanet:1871"} synonym: "cone dystrophy" EXACT [Orphanet:1871] synonym: "progressive cone dystrophy" NARROW [https://rarediseases.org/rare-diseases/cone-dystrophy/, Orphanet:1871] synonym: "retinal cone dystrophy" RELATED [DOID:0050795] synonym: "stationary cone dystrophy" NARROW [https://rarediseases.org/rare-diseases/cone-dystrophy/] xref: DOID:0050795 {source="MONDO:equivalentTo"} xref: ICD9:362.75 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D000077765 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: Orphanet:1871 {source="MONDO:equivalentTo"} xref: SCTID:312917007 {source="MONDO:equivalentTo"} xref: UMLS:C0730290 {source="MONDO:equivalentTo"} is_a: MONDO:0020242 {source="Orphanet:1871"} ! hereditary macular dystrophy property_value: exactMatch DOID:0050795 property_value: exactMatch http://identifiers.org/mesh/D000077765 property_value: exactMatch http://identifiers.org/snomedct/312917007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0730290 property_value: exactMatch Orphanet:1871 [Term] id: MONDO:0000456 name: cerebral creatine deficiency syndrome def: "Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency." [Orphanet:79172] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79172"} synonym: "CCDS" EXACT ABBREVIATION [Orphanet:79172] synonym: "CDS" EXACT ABBREVIATION [Orphanet:79172] synonym: "cerebral creatine deficiency syndrome" EXACT [Orphanet:79172] synonym: "creatine deficiency syndrome" EXACT [MONDO:0019221] xref: DOID:0050798 {source="MONDO:equivalentTo"} xref: OMIMPS:300352 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:79172 {source="MONDO:equivalentTo"} xref: UMLS:CN227588 {source="MONDO:equivalentTo"} is_a: MONDO:0004736 {source="DOID:0050798", source="MONDO:Redundant"} ! inborn disorder of amino acid metabolism is_a: MONDO:0015653 ! monogenic epilepsy is_a: MONDO:0019189 ! inborn disorder of amino acid and other organic acid metabolism is_a: MONDO:0019243 {source="Orphanet:79172"} ! inborn disorder of energy metabolism is_a: MONDO:0045022 ! disorder of organic acid metabolism is_a: MONDO:0100033 {source="https://orcid.org/0000-0001-8486-0558"} ! metabolic epilepsy property_value: exactMatch DOID:0050798 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227588 property_value: exactMatch https://omim.org/phenotypicSeries/PS300352 property_value: exactMatch Orphanet:79172 [Term] id: MONDO:0000461 name: nutritional biotin deficiency comment: Editor note: the DO class is 'biotin deficiency' but DO places as a subclass of nutritional. Consider adding grouping for inborn form, see PMID:3318710. MESH seems to refer to this? synonym: "B7 deficiency" BROAD [DOID:0050810] synonym: "biotin deficiency" BROAD [DOID:0050810] synonym: "biotin deficiency disease" BROAD [] synonym: "vitamine B7 deficiency" BROAD [] xref: DOID:0050810 {source="MONDO:equivalentTo"} xref: MESH:C531633 {source="MONDO:equivalentTo"} xref: SCTID:49607006 {source="MONDO:equivalentTo"} is_a: MONDO:0020699 ! biotin metabolic disease is_a: MONDO:0024298 {source="https://orcid.org/0000-0001-5208-3432"} ! vitamin deficiency disorder property_value: exactMatch DOID:0050810 property_value: exactMatch http://identifiers.org/mesh/C531633 property_value: exactMatch http://identifiers.org/snomedct/49607006 [Term] id: MONDO:0000463 name: Ochoa syndrome def: "Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression." [Orphanet:2704] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2704"} synonym: "hydronephrosis with peculiar facial expression" EXACT [DOID:0050816] synonym: "hydronephrosis-inverted smile syndrome" EXACT [Orphanet:2704] synonym: "inverted smile and occult neuropathic bladder" RELATED [GARD:0000104] synonym: "inverted smile-neurogenic bladder syndrome" EXACT [Orphanet:2704] synonym: "Ochoa syndrome" EXACT [DOID:0050816, Orphanet:2704] synonym: "partial facial palsy with urinary abnormalities" EXACT [GARD:0000104, Orphanet:2704] synonym: "UFS" RELATED ABBREVIATION [GARD:0000104] synonym: "urofacial Ochoa's syndrome" RELATED [GARD:0000104] synonym: "urofacial syndrome" EXACT [Orphanet:2704] xref: DOID:0050816 {source="MONDO:equivalentTo"} xref: MESH:C536480 {source="Orphanet:2704/e", source="MONDO:equivalentTo", source="Orphanet:2704"} xref: OMIMPS:236730 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:2704 {source="MONDO:equivalentTo", source="GARD:0000104", source="OMIM:236730"} xref: SCTID:236533008 {source="MONDO:equivalentTo"} is_a: EFO:1000017 {source="DOID:0050816", source="MONDO:Redundant"} ! autosomal recessive disease property_value: exactMatch DOID:0050816 property_value: exactMatch http://identifiers.org/mesh/C536480 property_value: exactMatch http://identifiers.org/snomedct/236533008 property_value: exactMatch https://omim.org/phenotypicSeries/PS236730 property_value: exactMatch Orphanet:2704 [Term] id: MONDO:0000465 name: atrioventricular block def: "A heart block that is initiated in the atrioventricular node." [MONDO:cjm, Wikipedia:Atrioventricular_block] synonym: "atrioventricular block" EXACT [MONDO:ambiguous] synonym: "atrioventricular block (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "AV block" EXACT [DOID:0050820, Wikipedia:Atrioventricular_block] synonym: "AV nodal block" EXACT [Wikipedia:Heart_block] synonym: "AVB" EXACT ABBREVIATION [Wikipedia:Atrioventricular_block] xref: DOID:0050820 {source="MONDO:equivalentTo"} xref: HP:0001678 {source="MONDO:otherHierarchy"} xref: ICD9:426.10 {source="MONDO:equivalentTo", source="DOID:0050820", source="MONDO:i2s"} xref: MESH:D054537 {source="MONDO:equivalentTo", source="DOID:0050820"} xref: SCTID:233917008 {source="MONDO:equivalentTo", source="DOID:0050820"} xref: UMLS:C0004245 {source="MONDO:equivalentTo", source="DOID:0050820"} is_a: MONDO:0000992 {source="DOID:0050820"} ! heart conduction disease is_a: MONDO:0008848 {source="MESH:D054537"} ! atrioventricular dissociation property_value: exactMatch DOID:0050820 property_value: exactMatch http://identifiers.org/mesh/D054537 property_value: exactMatch http://identifiers.org/snomedct/233917008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004245 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000589 "atrioventricular block (disease)" xsd:string [Term] id: MONDO:0000468 name: third-degree atrioventricular block def: "A disorder characterized by an electrocardiographic finding of complete failure of atrial electrical impulse conduction to the ventricles. This is manifested on the ECG by disassociation of atrial and ventricular rhythms. The atrial rate must be faster than the ventricular rate. (CDISC)" [NCIT:C50501] synonym: "atrioventricular block complete" EXACT [NCIT:C50501] synonym: "atrioventricular block, third degree" EXACT [NCIT:C50501] synonym: "AV block third degree" EXACT [NCIT:C50501] synonym: "complete atrioventricular block" EXACT [NCIT:C50501] synonym: "complete AV block" EXACT [DOID:0050823] synonym: "complete heart block" EXACT [NCIT:C50501] synonym: "non-congenital complete atrioventricular block" EXACT [NCIT:C50501] synonym: "third degree atrioventricular block" EXACT [NCIT:C50501] synonym: "third degree AV block" EXACT [NCIT:C50501] xref: DOID:0050823 {source="MONDO:equivalentTo"} xref: ICD9:426.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C50501 {source="MONDO:equivalentTo"} xref: SCTID:27885002 {source="MONDO:equivalentTo"} xref: UMLS:C0151517 {source="NCIT:C50501", source="MONDO:equivalentTo"} is_a: MONDO:0000465 {source="DOID:0050823"} ! atrioventricular block is_a: MONDO:0007263 {source="MONDO:Redundant", source="NCIT:C50501"} ! cardiac rhythm disease property_value: exactMatch DOID:0050823 property_value: exactMatch http://identifiers.org/snomedct/27885002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151517 property_value: exactMatch NCIT:C50501 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0000469 name: sinoatrial node disorder def: "A disease involving the sinoatrial node." [https://orcid.org/0000-0002-6601-2165] synonym: "disease of sinoatrial node" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of sinoatrial node" EXACT [] synonym: "disorder of sinoatrial node" EXACT [MONDO:patterns/location_top] synonym: "SA node" RELATED [DOID:0050824] synonym: "sinoatrial node disease" EXACT [MONDO:patterns/location] synonym: "sinoatrial node disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "sinuatrial node" RELATED [DOID:0050824] xref: DOID:0050824 {source="MONDO:equivalentTo"} is_a: EFO:0005137 ! conduction system disorder is_a: MONDO:0000992 {source="DOID:0050824"} ! heart conduction disease property_value: exactMatch DOID:0050824 [Term] id: MONDO:0000470 name: endocardium disorder def: "A disease involving the endocardium." [https://orcid.org/0000-0002-6601-2165] synonym: "disease of endocardium" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of endocardium" EXACT [] synonym: "disorder of endocardium" EXACT [MONDO:patterns/location_top] synonym: "endocardial disease" EXACT [] synonym: "endocardiopathy" RELATED [] synonym: "endocardium disease" EXACT [MONDO:patterns/location] synonym: "endocardium disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:0050825 {source="MONDO:equivalentTo"} xref: SCTID:123596001 {source="MONDO:equivalentTo"} xref: UMLS:C0854140 {source="MONDO:equivalentTo"} is_a: EFO:0003777 {source="DOID:0050825", source="MONDO:Redundant"} ! heart disease property_value: exactMatch DOID:0050825 property_value: exactMatch http://identifiers.org/snomedct/123596001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0854140 [Term] id: MONDO:0000473 name: arterial disorder def: "An impairment of the structure or function of the blood vessels which carry blood away from the heart." [NCIT:C35317] synonym: "arterial disease" EXACT [NCIT:C35317] synonym: "arterial disorder" EXACT [NCIT:C35317] synonym: "arteriopathy" EXACT [NCIT:C35317] synonym: "artery disease" EXACT [MONDO:patterns/location] synonym: "artery disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "disease of artery" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of artery" EXACT [] synonym: "disorder of artery" EXACT [MONDO:patterns/location_top] xref: DOID:0050828 {source="MONDO:equivalentTo"} xref: ICD9:447.8 xref: ICD9:447.9 xref: NCIT:C35317 {source="MONDO:equivalentTo"} xref: SCTID:359557001 {source="MONDO:equivalentTo"} xref: UMLS:C0852949 {source="MONDO:equivalentTo", source="NCIT:C35317"} is_a: EFO:0004264 {source="DOID:0050828", source="MONDO:Redundant", source="NCIT:C35317/inferred"} ! vascular disease property_value: exactMatch DOID:0050828 property_value: exactMatch http://identifiers.org/snomedct/359557001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0852949 property_value: exactMatch NCIT:C35317 [Term] id: MONDO:0000474 name: pericardium disorder def: "A disease involving the pericardium." [https://orcid.org/0000-0002-6601-2165] synonym: "disease of pericardium" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of pericardium" EXACT [] synonym: "disorder of pericardium" EXACT [MONDO:patterns/location_top] synonym: "pericardium disease" EXACT [MONDO:patterns/location] synonym: "pericardium disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:0050829 {source="MONDO:equivalentTo"} xref: ICD9:423.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:423.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:55855009 {source="MONDO:equivalentTo"} xref: UMLS:C0265122 {source="MONDO:equivalentTo"} is_a: EFO:0003777 ! heart disease property_value: exactMatch DOID:0050829 property_value: exactMatch http://identifiers.org/snomedct/55855009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265122 [Term] id: MONDO:0000476 name: generalized dystonia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:376724"} synonym: "childhood torsion disease" RELATED [MESH:D004422] synonym: "dystonia 12" RELATED [DOID:0050835] synonym: "dystonia deformans musculorum" RELATED [MESH:D004422] synonym: "dystonia deformans progressiva" EXACT [DOID:0050835, MESH:D004422] synonym: "dystonia musculorum deformans" RELATED [DOID:0050835] synonym: "dystonia, Idiopathic torsion" RELATED [MESH:D004422] synonym: "dystonias, Idiopathic torsion" RELATED [MESH:D004422] synonym: "dystonias, torsion" RELATED [MESH:D004422] synonym: "familial dystonia" RELATED [DOID:0050835] synonym: "fragments of torsion dystonia" RELATED [DOID:0050835] synonym: "generalised isolated dystonia" EXACT OMO:0003005 [] synonym: "generalized isolated dystonia" EXACT [MONDO:0018303] synonym: "idiopathic familial dystonia" RELATED [DOID:0050835] synonym: "idiopathic non-familial dystonia" RELATED [DOID:0050835] synonym: "Idiopathic torsion dystonia" RELATED [MESH:D004422] synonym: "idiopathic torsion dystonia" RELATED [DOID:0050835, ICD9CM:333.6] synonym: "Idiopathic torsion dystonias" RELATED [MESH:D004422] synonym: "Oppenheim Ziehen disease" RELATED [MESH:D004422] synonym: "Oppenheim-Ziehen disease" RELATED [MESH:D004422] synonym: "Progressive torsion spasm" RELATED [MESH:D004422] synonym: "spasm, Progressive torsion" RELATED [MESH:D004422] synonym: "symptomatic torsion dystonia" RELATED [DOID:0050835] synonym: "torsion disease of childhood" RELATED [MESH:D004422] synonym: "torsion disease, childhood" RELATED [MESH:D004422] synonym: "torsion dystonia" RELATED [MESH:D004422, Wikipedia:Dystonia#Generalized_dystonias] synonym: "torsion dystonia, Idiopathic" RELATED [MESH:D004422] synonym: "torsion spasm, Progressive" RELATED [MESH:D004422] xref: DOID:0050835 {source="MONDO:equivalentTo"} xref: ICD9:333.6 {source="DOID:0050835"} xref: ICD9:333.8 {source="DOID:0050835"} xref: ICD9:333.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D004422 {source="MONDO:equivalentTo", source="DOID:0050835"} xref: Orphanet:376724 {source="MONDO:equivalentTo"} xref: SCTID:425492002 {source="MONDO:equivalentTo"} is_a: MONDO:0015494 {source="MONDO:Redundant", source="Orphanet:376724"} ! isolated dystonia property_value: exactMatch DOID:0050835 property_value: exactMatch http://identifiers.org/mesh/D004422 property_value: exactMatch http://identifiers.org/snomedct/425492002 property_value: exactMatch Orphanet:376724 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5166 xsd:anyURI [Term] id: MONDO:0000477 name: focal dystonia def: "A dystonia that is localized to a specific part of the body." [DOID:0050836, http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm] xref: DOID:0050836 {source="MONDO:equivalentTo"} xref: SCTID:445006008 {source="MONDO:equivalentTo"} xref: UMLS:C0743332 {source="MONDO:equivalentTo"} is_a: MONDO:0003441 {source="DOID:0050836"} ! dystonic disorder property_value: exactMatch DOID:0050836 property_value: exactMatch http://identifiers.org/snomedct/445006008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0743332 [Term] id: MONDO:0000478 name: multifocal dystonia def: "A dystonia that involves two or more unrelated body parts." [DOID:0050837, http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm] xref: DOID:0050837 {source="MONDO:equivalentTo"} is_a: MONDO:0003441 {source="DOID:0050837"} ! dystonic disorder property_value: exactMatch DOID:0050837 [Term] id: MONDO:0000481 name: cervical dystonia def: "Cervical dystonia is a neurological condition characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head (dystonia).Most commonly, the head turns to one side or the other.Tilting sideways, or to the back or front may also occur.The turning or tilting movements may be accompanied by shaking movement (tremor) and/or soreness of the muscles of the neck and shoulders.Cervical dystonia can occur at any age, but most cases occur in middle age. It often begins slowly and usually reaches a plateau over a few months or years. The cause of cervical dystonia is often unknown. In some cases there is a family history. Several genes have been associated with cervical dystonia, including GNAL, THAP1, CIZ1, and ANO3. Other cases may be linked to an underlying disease (e.g. Parkinson disease), neck trauma, or certain medications. Treatment may include local injections of botulinum toxin, pain medications, benzodiazepines (anti-anxiety medications), anticholinergics,physical therapy, or surgery." [https://rarediseases.info.nih.gov/diseases/10668/cervical-dystonia] subset: gard_rare {source="GARD:0010668"} synonym: "spasmodic torticollis" RELATED [DOID:0050840] xref: DOID:0050840 {source="MONDO:equivalentTo"} xref: ICD9:333.83 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C85072 {source="MONDO:equivalentTo"} xref: Orphanet:93962 {source="MONDO:equivalentObsolete"} xref: SCTID:74333002 {source="MONDO:equivalentTo"} is_a: MONDO:0000477 {source="DOID:0050840", source="Wikipedia:Dystonia"} ! focal dystonia property_value: exactMatch DOID:0050840 property_value: exactMatch DOID:0050840 property_value: exactMatch http://identifiers.org/snomedct/74333002 property_value: exactMatch http://identifiers.org/snomedct/74333002 property_value: exactMatch NCIT:C85072 property_value: exactMatch NCIT:C85072 property_value: gwas:trait "true" xsd:boolean property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10668/cervical-dystonia xsd:anyURI {source="GARD:0010668"} [Term] id: MONDO:0000485 name: spasmodic dystonia def: "A chronic voice disorder characterized by momentary periods of uncontrolled spasms of the muscles of the larynx." [https://rarediseases.org/rare-diseases/laryngeal-dystonia/] synonym: "abductor spasmodic dysphonia" NARROW [GARD:0007668] synonym: "adductor spasmodic dysphonia" NARROW [GARD:0007668] synonym: "laryngeal dyskinesia" EXACT [GARD:0007668] synonym: "laryngeal dystonia" EXACT [DOID:0050844, https://rarediseases.org/rare-diseases/laryngeal-dystonia/] synonym: "mixed spasmodic dysphonia (type)" RELATED [GARD:0007668] synonym: "spasmodic dysphonia" EXACT [GARD:0007668, https://rarediseases.org/rare-diseases/laryngeal-dystonia/] synonym: "spastic dysphonia" EXACT [GARD:0007668, https://rarediseases.org/rare-diseases/laryngeal-dystonia/] xref: DOID:0050844 {source="MONDO:equivalentTo"} xref: ICD9:478.79 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D055154 {source="MONDO:equivalentTo"} xref: Orphanet:93961 {source="MONDO:equivalentObsolete"} xref: SCTID:3331000119108 {source="MONDO:equivalentTo"} xref: UMLS:C1963946 {source="MONDO:equivalentTo"} is_a: EFO:0009673 ! laryngeal disease is_a: MONDO:0000477 {source="DOID:0050844", source="Wikipedia:Dystonia"} ! focal dystonia property_value: exactMatch DOID:0050844 property_value: exactMatch http://identifiers.org/mesh/D055154 property_value: exactMatch http://identifiers.org/snomedct/3331000119108 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1963946 [Term] id: MONDO:0000486 name: craniofacial dystonia alt_id: MONDO:0022885 def: "A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck." [DOID:0050845, http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm] subset: gard_rare synonym: "cranio-facial dystonia" EXACT [DOID:0050845] xref: DOID:0050845 {source="MONDO:equivalentTo"} xref: UMLS:C4023011 {source="MONDO:equivalentTo"} is_a: MONDO:0000477 {source="DOID:0050845"} ! focal dystonia property_value: exactMatch DOID:0050845 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4023011 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10667/craniofacial-dystonia xsd:anyURI {source="GARD:0010667"} [Term] id: MONDO:0000489 name: diabetic encephalopathy def: "A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes." [DOID:0050850, http://link.springer.com/chapter/10.1007%2F978-1-59745-311-0_11#page-1, PMID:20798963] xref: DOID:0050850 {source="MONDO:equivalentTo"} is_a: EFO:0005774 {source="DOID:0050850", source="MONDO:Redundant"} ! brain disease intersection_of: EFO:0005774 ! brain disease intersection_of: disease_arises_from_feature EFO:0000400 ! diabetes mellitus relationship: disease_arises_from_feature EFO:0000400 ! diabetes mellitus property_value: exactMatch DOID:0050850 [Term] id: MONDO:0000490 name: glomerulosclerosis def: "A hardening of the kidney glomerulus caused by scarring of the blood vessels." [NCIT:C120888] synonym: "glomerular sclerosis" EXACT [NCIT:C120888] xref: DOID:0050851 {source="MONDO:equivalentTo"} xref: NCIT:C120888 {source="MONDO:equivalentTo"} xref: SCTID:197661001 {source="MONDO:equivalentTo"} xref: UMLS:C0178664 {source="NCIT:C120888", source="MONDO:equivalentTo"} is_a: EFO:1002049 {source="MONDO:cjm"} ! glomerular disease relationship: disease_causes_feature EFO:1002048 ! kidney failure property_value: exactMatch DOID:0050851 property_value: exactMatch http://identifiers.org/snomedct/197661001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0178664 property_value: exactMatch NCIT:C120888 [Term] id: MONDO:0000502 name: villous adenoma def: "An epithelial neoplasm morphologically characterized by the presence of a villous architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features. It may also arise in the urinary bladder, urethra, and vagina." [NCIT:P378] synonym: "villous adenoma" EXACT [NCIT:C7399] xref: DOID:0050869 {source="MONDO:equivalentTo"} xref: ICDO:8261/0 {source="NCIT:C7399"} xref: MESH:D018253 {source="MONDO:equivalentTo"} xref: NCIT:C7399 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C0206674 {source="NCIT:C7399", source="MONDO:equivalentTo"} is_a: EFO:0000232 {source="DOID:0050869", source="MESH:D018253", source="NCIT:C7399"} ! adenoma is_a: MONDO:0024276 {source="NCIT:C7399"} ! glandular cell neoplasm property_value: exactMatch DOID:0050869 property_value: exactMatch http://identifiers.org/mesh/D018253 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206674 property_value: exactMatch NCIT:C7399 [Term] id: MONDO:0000507 name: inclusion body myopathy with Paget disease of bone and frontotemporal dementia def: "Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy); early-onset Paget disease of bone, manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia, manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure." [Orphanet:52430] subset: ordo_disease {source="Orphanet:52430"} synonym: "IBMPFD" EXACT ABBREVIATION [DOID:0050881, Orphanet:52430] synonym: "inclusion body myopathy with early-onset Paget disease and frontotemporal dementia" RELATED [GARD:0010899] synonym: "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia" EXACT [] synonym: "inclusion body myopathy with Paget's disease of bone and frontotemporal dementia" EXACT [DOID:0050881] synonym: "inclusion body myopathy/Paget disease/frontotemporal dementia" EXACT [OMIMPS:167320] synonym: "limb-girdle muscular dystrophy with Paget disease of bone" EXACT [Orphanet:52430] synonym: "pagetoid amyotrophic lateral sclerosis" EXACT [Orphanet:52430] synonym: "pagetoid neuroskeletal syndrome" EXACT [OMIM:167320, Orphanet:52430] xref: DOID:0050881 {source="MONDO:equivalentTo"} xref: OMIMPS:167320 {source="MONDO:equivalentTo"} xref: Orphanet:52430 {source="MONDO:equivalentTo"} xref: SCTID:703544004 {source="MONDO:equivalentTo"} xref: UMLS:C1833662 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="DOID:0050881"} ! syndromic disease is_a: MONDO:0016112 {source="Orphanet:52430"} ! hereditary inclusion-body myopathy is_a: MONDO:0017276 {source="https://orcid.org/0000-0001-5208-3432"} ! frontotemporal dementia property_value: exactMatch DOID:0050881 property_value: exactMatch http://identifiers.org/snomedct/703544004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833662 property_value: exactMatch https://omim.org/phenotypicSeries/PS167320 property_value: exactMatch Orphanet:52430 property_value: excluded_subClassOf MONDO:0019708 {source="Orphanet:52430"} [Term] id: MONDO:0000508 name: syndromic intellectual disability def: "A intellectual disability that is part of a larger syndrome." [MONDO:patterns/syndromic] synonym: "syndrome associated with intellectual disability" EXACT [MONDO:patterns/syndromic] synonym: "syndromic intellectual disability" EXACT [MONDO:patterns/syndromic] xref: DOID:0050888 {source="MONDO:equivalentTo"} xref: UMLS:CN225415 {source="MONDO:equivalentTo"} is_a: EFO:0005548 ! developmental disorder of mental health is_a: MONDO:0002254 ! syndromic disease property_value: exactMatch DOID:0050888 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN225415 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI [Term] id: MONDO:0000509 name: non-syndromic intellectual disability def: "An intellectual disability that is not part of a larger syndrome." [MONDO:patterns/isolated] synonym: "isolated intellectual disability" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "nonsyndromic intellectual disability" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/isolated] xref: DOID:0050889 {source="MONDO:equivalentTo"} is_a: EFO:0005548 ! developmental disorder of mental health relationship: has_characteristic MONDO:0021128 ! has an isolated presentation property_value: exactMatch DOID:0050889 [Term] id: MONDO:0000514 name: bone squamous cell carcinoma def: "A squamous cell carcinoma that involves the bone tissue." [MONDO:patterns/location] synonym: "bone tissue squamous cell carcinoma" EXACT [MONDO:patterns/location] xref: DOID:0050896 {source="MONDO:equivalentTo"} is_a: EFO:0000707 ! squamous cell carcinoma is_a: MONDO:0002415 {source="DOID:0050896", source="MONDO:Entailed", source="MONDO:Redundant"} ! bone carcinoma property_value: exactMatch DOID:0050896 [Term] id: MONDO:0000515 name: bone chondrosarcoma def: "A chondrosarcoma (disease) that involves the bone tissue." [MONDO:patterns/location] synonym: "bone tissue chondrosarcoma (disease)" EXACT [MONDO:patterns/location] synonym: "chondrosarcoma (disease) of bone tissue" EXACT [] xref: DOID:0050897 {source="MONDO:equivalentTo"} is_a: EFO:0000333 {source="DOID:0050897", source="MONDO:Redundant"} ! chondrosarcoma is_a: EFO:1000350 ! Malignant Bone Neoplasm property_value: exactMatch DOID:0050897 [Term] id: MONDO:0000521 name: salivary gland carcinoma def: "A carcinoma that arises from the major or minor salivary glands. Representative examples include carcinoma ex pleomorphic adenoma, adenocarcinoma, adenoid cystic carcinoma, and mucoepidermoid carcinoma." [NCIT:C9272] synonym: "carcinoma of saliva-secreting gland" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of salivary gland" EXACT [NCIT:C9272] synonym: "carcinoma of the salivary gland" EXACT [NCIT:C9272] synonym: "saliva-secreting gland carcinoma" EXACT [MONDO:patterns/location] synonym: "salivary carcinoma" RELATED [ONCOTREE:SACA] synonym: "salivary gland cancer" BROAD [NCIT:C9272] synonym: "salivary gland carcinoma" EXACT [NCIT:C9272] xref: DOID:0050904 {source="MONDO:equivalentTo"} xref: NCIT:C9272 {source="MONDO:equivalentTo"} xref: ONCOTREE:SACA {source="MONDO:equivalentTo"} xref: UMLS:C0948750 {source="MONDO:equivalentTo", source="NCIT:C9272"} is_a: MONDO:0004669 {source="DOID:0050904", source="MONDO:Redundant", source="NCIT:C9272"} ! salivary gland cancer is_a: MONDO:0044925 ! oral cavity carcinoma property_value: exactMatch DOID:0050904 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0948750 property_value: exactMatch NCIT:C9272 [Term] id: MONDO:0000524 name: mixed extragonadal germ cell cancer def: "A mixed germ cell cancer that is located in areas of the body other than the ovary or testicle." [DOID:0050907, http://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed, http://www.cancer.gov/dictionary?CdrID=444993] xref: DOID:0050907 {source="MONDO:equivalentTo"} is_a: MONDO:0003113 ! extragonadal germ cell cancer is_a: MONDO:0015864 {source="DOID:0050907", source="MONDO:Redundant"} ! mixed germ cell tumor intersection_of: MONDO:0003113 ! extragonadal germ cell cancer intersection_of: MONDO:0015864 ! mixed germ cell tumor property_value: exactMatch DOID:0050907 [Term] id: MONDO:0000527 name: colon adenoma def: "An adenoma that arises from the colon. The group of colonic adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis." [NCIT:P378] synonym: "adenoma of colon" EXACT [NCIT:C3864] synonym: "adenoma of the colon" EXACT [NCIT:C3864] synonym: "colon adenoma" EXACT [MONDO:patterns/location, NCIT:C3864] synonym: "colonic adenoma" EXACT [NCIT:C3864] xref: DOID:0050912 {source="MONDO:equivalentTo"} xref: NCIT:C3864 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C0850572 {source="MONDO:equivalentTo", source="NCIT:C3864"} is_a: EFO:0005406 {source="MONDO:Redundant", source="NCIT:C3864"} ! colorectal adenoma is_a: MONDO:0024479 ! epithelial tumor of colon property_value: exactMatch DOID:0050912 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0850572 property_value: exactMatch NCIT:C3864 property_value: excluded_subClassOf MONDO:0002278 {source="DOID:0050912"} [Term] id: MONDO:0000530 name: rectum adenoma def: "An adenoma that arises from the rectum. The group of rectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis." [NCIT:P378] synonym: "adenoma of rectum" EXACT [NCIT:C5546] synonym: "adenoma of the rectum" EXACT [NCIT:C5546] synonym: "rectal adenoma" EXACT [NCIT:C5546] synonym: "rectum adenoma" EXACT [MONDO:patterns/location] xref: DOID:0050915 {source="MONDO:equivalentTo"} xref: NCIT:C5546 {source="MONDO:equivalentTo"} xref: SCTID:399730005 {source="MONDO:equivalentTo"} xref: UMLS:C1302652 {source="MONDO:equivalentTo", source="NCIT:C5546"} is_a: EFO:0005406 {source="MONDO:Redundant", source="NCIT:C5546"} ! colorectal adenoma is_a: MONDO:0024476 ! epithelial neoplasm of rectum property_value: exactMatch DOID:0050915 property_value: exactMatch http://identifiers.org/snomedct/399730005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1302652 property_value: exactMatch NCIT:C5546 [Term] id: MONDO:0000532 name: lung combined type small cell adenocarcinoma def: "A lung combined type small cell carcinoma that has material basis in epithelial tissue of glandular origin." [DOID:0050917, http://en.wikipedia.org/wiki/Combined_small-cell_lung_carcinoma, http://www.cancer.gov/dictionary?CdrID=45327, http://www.cancer.gov/dictionary?CdrID=46216] xref: DOID:0050917 {source="MONDO:equivalentTo"} is_a: EFO:0000571 ! lung adenocarcinoma is_a: MONDO:0003438 {source="DOID:0050917", source="MONDO:Entailed", source="MONDO:Redundant"} ! combined small cell lung carcinoma intersection_of: EFO:0000228 ! adenocarcinoma intersection_of: MONDO:0003438 ! combined small cell lung carcinoma property_value: exactMatch DOID:0050917 [Term] id: MONDO:0000535 name: tonsil squamous cell carcinoma def: "A squamous cell carcinoma that involves the tonsil." [MONDO:patterns/location] synonym: "tonsil squamous cell carcinoma" EXACT [MONDO:patterns/location] xref: DOID:0050920 {source="MONDO:equivalentTo"} is_a: MONDO:0021337 ! tonsil carcinoma is_a: MONDO:0044704 ! oropharynx squamous cell carcinoma property_value: exactMatch DOID:0050920 [Term] id: MONDO:0000540 name: small intestinal neuroendocrine tumor G1 def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:C4638] synonym: "carcinoid tumor of small bowel" EXACT [NCIT:C4638] synonym: "carcinoid tumor of small intestine" EXACT [NCIT:C4638] synonym: "carcinoid tumor of the small bowel" EXACT [NCIT:C4638] synonym: "carcinoid tumor of the small intestine" EXACT [NCIT:C4638] synonym: "carcinoid tumour of small bowel" EXACT OMO:0003005 [] synonym: "carcinoid tumour of small intestine" EXACT OMO:0003005 [] synonym: "carcinoid tumour of the small bowel" EXACT OMO:0003005 [] synonym: "carcinoid tumour of the small intestine" EXACT OMO:0003005 [] synonym: "grade 1 neuroendocrine neoplasm of small intestine" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "small bowel carcinoid tumor" EXACT [NCIT:C4638] synonym: "small bowel carcinoid tumour" EXACT OMO:0003005 [] synonym: "small intestinal carcinoid tumor" EXACT [NCIT:C4638] synonym: "small intestinal carcinoid tumour" EXACT OMO:0003005 [] synonym: "small intestinal NET G1" EXACT [NCIT:C4638] synonym: "small intestinal neuroendocrine tumor G1" EXACT [NCIT:C4638] synonym: "small intestine carcinoid neuroendocrine tumor" RELATED [DOID:0050925] synonym: "small intestine carcinoid neuroendocrine tumour" RELATED OMO:0003005 [] synonym: "small intestine carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1, NCIT:C4638] synonym: "small intestine carcinoid tumor (disease)" EXACT [MONDO:patterns/location] synonym: "small intestine carcinoid tumour" EXACT OMO:0003005 [] synonym: "small intestine carcinoid tumour (disease)" EXACT OMO:0003005 [] synonym: "small intestine NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "small intestine neuroendocrine neoplasm G1" EXACT [] synonym: "small intestine neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] xref: DOID:0050925 {source="MONDO:equivalentTo"} xref: NCIT:C4638 {source="MONDO:equivalentTo"} xref: SCTID:276818002 {source="MONDO:equivalentTo"} xref: UMLS:C0349536 {source="MONDO:equivalentTo", source="NCIT:C4638"} is_a: MONDO:0002995 {source="MONDO:Redundant", source="NCIT:C4638"} ! small intestine neuroendocrine tumor, well differentiated, low or intermediate grade is_a: MONDO:0021533 {source="MONDO:Redundant", source="NCIT:C4638"} ! intestinal neuroendocrine tumor G1 property_value: exactMatch DOID:0050925 property_value: exactMatch http://identifiers.org/snomedct/276818002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349536 property_value: exactMatch NCIT:C4638 [Term] id: MONDO:0000544 name: mucosal melanoma def: "A melanoma that arises from a mucosal site." [NCIT:P378] synonym: "mucosal melanoma" EXACT [NCIT:C114828] xref: DOID:0050929 {source="MONDO:equivalentTo"} xref: NCIT:C114828 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C3898222 {source="MONDO:equivalentTo"} is_a: EFO:1000397 {source="NCIT:C114828"} ! Non-Cutaneous Melanoma property_value: exactMatch DOID:0050929 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3898222 property_value: exactMatch NCIT:C114828 [Term] id: MONDO:0000548 name: ovarian clear cell cancer def: "An invasive malignant neoplasm that arises from the ovary and is characterized by a predominance of clear and hobnail malignant epithelial cells." [NCIT:C40077] synonym: "clear-cell ovarian carcinoma" EXACT [DOID:0050934] synonym: "malignant ovarian clear cell neoplasm" EXACT [NCIT:C40077] synonym: "malignant ovarian clear cell tumor" EXACT [NCIT:C40077] synonym: "malignant ovarian clear cell tumour" EXACT OMO:0003005 [] synonym: "ovarian clear cell carcinoma" RELATED [DOID:0050934] xref: DOID:0050934 {source="MONDO:equivalentTo", source="MONDO:generalized-by-cjm"} xref: NCIT:C40077 {source="MONDO:equivalentTo"} xref: UMLS:C1518230 {source="MONDO:equivalentTo", source="NCIT:C40077"} is_a: MONDO:0018364 {source="DOID:0050934/inferred", source="NCIT:C40077"} ! malignant epithelial tumor of ovary is_a: MONDO:0021144 {source="NCIT:C40077"} ! ovarian clear cell tumor property_value: exactMatch DOID:0050934 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518230 property_value: exactMatch NCIT:C40077 [Term] id: MONDO:0000551 name: retroperitoneal neuroblastoma def: "A neuroblastoma that involves the retroperitoneal space." [MONDO:patterns/location] synonym: "neuroblastoma of retroperitoneal space" EXACT [] synonym: "retroperitoneal space neuroblastoma" EXACT [MONDO:patterns/location] xref: DOID:0050937 {source="MONDO:equivalentTo"} is_a: EFO:0000621 ! neuroblastoma is_a: MONDO:0024645 ! retroperitoneal neoplasm property_value: exactMatch DOID:0050937 [Term] id: MONDO:0000554 name: endocervical adenocarcinoma def: "An adenocarcinoma that arises from the endocervix. It is the most common type of endocervical adenocarcinoma. The neoplastic epithelium shows a pseudostratified architecture and the malignant cells have enlarged, elongated, and hyperchromatic nuclei." [NCIT:C127907] synonym: "endocervical adenocarcinoma, usual type" EXACT [NCIT:C127907] synonym: "endocervix adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:0050940 {source="MONDO:equivalentTo"} xref: NCIT:C127907 {source="MONDO:equivalentTo"} xref: ONCOTREE:ECAD {source="MONDO:equivalentTo"} xref: SCTID:123842006 {source="MONDO:equivalentTo"} xref: UMLS:C1263762 {source="MONDO:equivalentTo"} xref: UMLS:C4289591 {source="MONDO:equivalentTo"} is_a: EFO:0001416 {source="NCIT:C127907", source="ONCOTREE:ECAD"} ! cervical adenocarcinoma is_a: MONDO:0004259 {source="DOID:0050940", source="MONDO:Redundant", source="NCIT:C127907"} ! endocervical carcinoma property_value: exactMatch DOID:0050940 property_value: exactMatch http://identifiers.org/snomedct/123842006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1263762 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4289591 property_value: exactMatch NCIT:C127907 [Term] id: MONDO:0000565 name: infective endocarditis def: "Infective endocarditis (IE) is an infection of the inner lining of the heart chambers (endocardium) and valves. This condition is sometimes called 'endocarditis,' although it is important to distinguish it from non-infective endocarditis. IE is caused bybacteria, fungi, or other germs invading the bloodstream and attaching to the heart. IE can damagethe heart and cause serious and sometimes fatal complications. It can develop quickly or slowly depending on what type of germ is causing it and whether there is an underlying heart problem. Common symptoms of IE are fever and other flu-like symptoms, but signs and symptoms can vary. It can also cause problems in many other parts of the body besides the heart. IE is typically treated with antibiotics for several weeks; some individuals may need heart surgery to repair or replace heart valves or remove infected heart tissue." [https://rarediseases.info.nih.gov/diseases/6337/infective-endocarditis] subset: gard_rare {source="GARD:0006337"} synonym: "endocarditis infective" EXACT [NCIT:C78265] synonym: "endocarditis, infective" RELATED [GARD:0006337] xref: DOID:0060000 {source="MONDO:equivalentTo"} xref: ICD9:136.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C78265 {source="MONDO:equivalentTo"} xref: Orphanet:570762 {source="MONDO:equivalentTo"} xref: SCTID:233850007 {source="MONDO:equivalentTo"} is_a: EFO:0000465 {source="DOID:0060000", source="MONDO:Redundant", source="NCIT:C78265"} ! endocarditis is_a: EFO:0005741 ! infectious disease property_value: exactMatch DOID:0060000 property_value: exactMatch http://identifiers.org/snomedct/233850007 property_value: exactMatch NCIT:C78265 property_value: exactMatch Orphanet:570762 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6337/infective-endocarditis xsd:anyURI {source="GARD:0006337"} [Term] id: MONDO:0000569 name: autoimmune disorder of endocrine system def: "A hypersensitivity reaction type II disease that involves the endocrine system." [MONDO:patterns/location] synonym: "endocrine system autoimmune disease" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "endocrine system hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location] xref: DOID:0060005 {source="MONDO:equivalentTo"} xref: ICD9:279.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:237822008 {source="MONDO:equivalentTo"} xref: UMLS:C0342552 {source="MONDO:equivalentTo"} is_a: EFO:0001379 {source="DOID:0060005", source="MONDO:Redundant"} ! endocrine system disease is_a: EFO:0005809 {source="DOID:0060005", source="MONDO:Redundant"} ! type II hypersensitivity reaction disease property_value: exactMatch DOID:0060005 property_value: exactMatch http://identifiers.org/snomedct/237822008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342552 [Term] id: MONDO:0000572 name: recombinase activating gene 1 deficiency def: "A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes." [DOID:0060011, http://bioinf.uta.fi/RAG1base/, http://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html] synonym: "recombinase activating gene 1 deficiency" EXACT [] xref: DOID:0060011 {source="MONDO:equivalentTo"} is_a: MONDO:0015974 {source="DOID:0060011"} ! severe combined immunodeficiency property_value: exactMatch DOID:0060011 [Term] id: MONDO:0000573 name: recombinase activating gene 2 deficiency def: "A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes." [DOID:0060012, http://bioinf.uta.fi/RAG2base/, http://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html] synonym: "recombinase activating gene 2 deficiency" EXACT [] xref: DOID:0060012 {source="MONDO:equivalentTo"} is_a: MONDO:0015974 {source="DOID:0060012"} ! severe combined immunodeficiency property_value: exactMatch DOID:0060012 [Term] id: MONDO:0000577 name: congenital anemia def: "Anemia, the cause of which is present at birth." [NCIT:C35228] synonym: "congenital anaemia (disease)" EXACT OMO:0003005 [] synonym: "congenital anemia" EXACT [NCIT:C35228] synonym: "congenital anemia (disease)" EXACT [MONDO:patterns/congenital] xref: NCIT:C35228 {source="MONDO:equivalentTo"} xref: SCTID:63565007 {source="MONDO:equivalentTo"} xref: UMLS:C0158995 {source="MONDO:equivalentTo"} is_a: MONDO:0002280 ! anemia is_a: MONDO:0009332 {source="NCIT:C35228"} ! congenital hematological disorder intersection_of: MONDO:0002280 ! anemia intersection_of: has_characteristic MONDO:0021140 ! congenital property_value: exactMatch http://identifiers.org/snomedct/63565007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0158995 property_value: exactMatch NCIT:C35228 [Term] id: MONDO:0000586 name: autoimmune disorder of exocrine system def: "A hypersensitivity reaction type II disease that involves the exocrine system." [MONDO:patterns/location] synonym: "exocrine system autoimmune disease" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "exocrine system hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location] xref: DOID:0060029 {source="MONDO:equivalentTo"} is_a: EFO:0005809 {source="DOID:0060029", source="MONDO:Entailed", source="MONDO:Redundant"} ! type II hypersensitivity reaction disease property_value: exactMatch DOID:0060029 [Term] id: MONDO:0000587 name: autoimmune disease of ear, nose and throat def: "An autoimmune form of otorhinolaryngologic disease." [MONDO:patterns/autoimmune] comment: Editor note: ENT typically excludes eye, but the DOID class includes this synonym: "autoimmune disease of eyes, ear, nose and throat" RELATED [DOID:0060030] synonym: "autoimmune otorhinolaryngologic disease" EXACT [MONDO:cjm] xref: DOID:0060030 {source="MONDO:equivalentTo"} is_a: EFO:0005809 {source="DOID:0060030", source="MONDO:Redundant"} ! type II hypersensitivity reaction disease is_a: MONDO:0024623 ! otorhinolaryngologic disease property_value: exactMatch DOID:0060030 [Term] id: MONDO:0000588 name: autoimmune disorder of gastrointestinal tract def: "A hypersensitivity reaction type II disease that involves the alimentary part of gastrointestinal system." [MONDO:patterns/location] synonym: "alimentary part of gastrointestinal system autoimmune disease" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "alimentary part of gastrointestinal system hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location] synonym: "autoimmune disease of alimentary part of gastrointestinal system" EXACT [MONDO:design_pattern] xref: DOID:0060031 {source="MONDO:equivalentTo"} is_a: EFO:0000405 ! digestive system disease is_a: EFO:0005809 {source="DOID:0060031", source="MONDO:Entailed", source="MONDO:Redundant"} ! type II hypersensitivity reaction disease property_value: exactMatch DOID:0060031 [Term] id: MONDO:0000589 name: autoimmune disorder of musculoskeletal system def: "A hypersensitivity reaction type II disease that involves the musculoskeletal system." [MONDO:patterns/location] synonym: "musculoskeletal system autoimmune disease" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "musculoskeletal system hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location] xref: DOID:0060032 {source="MONDO:equivalentTo"} is_a: EFO:0005809 {source="DOID:0060032", source="MONDO:Entailed", source="MONDO:Redundant"} ! type II hypersensitivity reaction disease is_a: EFO:0009676 {source="DOID:0060032", source="MONDO:Entailed", source="MONDO:Redundant"} ! musculoskeletal system disease property_value: exactMatch DOID:0060032 [Term] id: MONDO:0000590 name: autoimmune disorder of peripheral nervous system def: "A hypersensitivity reaction type II disease that involves the peripheral nervous system." [MONDO:patterns/location] synonym: "peripheral nervous system autoimmune disease" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "peripheral nervous system hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location] xref: DOID:0060033 {source="MONDO:equivalentTo"} is_a: EFO:0009387 {source="DOID:0060033", source="MONDO:Redundant"} ! peripheral nervous system disease is_a: MONDO:0002977 {source="DOID:0060033", source="MONDO:Redundant"} ! autoimmune disorder of the nervous system property_value: exactMatch DOID:0060033 [Term] id: MONDO:0000591 name: intrinsic cardiomyopathy def: "A cardiomyopathy that is due to abnormalities in heart muscle cells." [https://www.emedicinehealth.com/cardiomyopathy/article_em.htm, Wikipedia:Cardiomyopathy] synonym: "intrinsic cardiomyopathy" EXACT [] synonym: "primary cardiomyopathy" EXACT [Wikipedia:Cardiomyopathy] xref: DOID:0060036 {source="MONDO:equivalentTo"} is_a: EFO:0000318 {source="DOID:0060036", source="MONDO:Entailed", source="MONDO:Redundant"} ! cardiomyopathy disjoint_from: MONDO:0002824 ! extrinsic cardiomyopathy property_value: exactMatch DOID:0060036 [Term] id: MONDO:0000592 name: specific developmental disorder def: "A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination." [DOID:0060038, http://en.wikipedia.org/wiki/Specific_developmental_disorder] synonym: "specific delays in development" RELATED [] synonym: "specific developmental disorder" EXACT [] xref: DOID:0060038 {source="MONDO:equivalentTo"} xref: ICD9:315.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:10720004 {source="MONDO:equivalentTo"} is_a: EFO:0005548 {source="DOID:0060038"} ! developmental disorder of mental health disjoint_from: MONDO:0000594 {source="MONDO:cjm", source="Wikipedia:Specific_developmental_disorder"} ! pervasive developmental disorder property_value: exactMatch DOID:0060038 property_value: exactMatch http://identifiers.org/snomedct/10720004 [Term] id: MONDO:0000594 name: pervasive developmental disorder def: "A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions." [NCIT:C97179] synonym: "pervasive child development disorders" RELATED [MESH:D002659] synonym: "pervasive development disorder" EXACT [DOID:0060040] synonym: "pervasive development disorders" RELATED [MESH:D002659] xref: DOID:0060040 {source="MONDO:equivalentTo"} xref: ICD9:299.80 {source="DOID:0060040"} xref: MESH:D002659 {source="MONDO:equivalentTo"} xref: NCIT:C97179 {source="MONDO:equivalentTo"} xref: SCTID:35919005 {source="MONDO:equivalentTo"} is_a: EFO:0005548 {source="DOID:0060040"} ! developmental disorder of mental health is_a: MONDO:0100038 {source="https://orcid.org/0000-0002-6733-369X"} ! complex neurodevelopmental disorder property_value: exactMatch DOID:0060040 property_value: exactMatch http://identifiers.org/mesh/D002659 property_value: exactMatch http://identifiers.org/snomedct/35919005 property_value: exactMatch NCIT:C97179 [Term] id: MONDO:0000595 name: sexual and gender identity disorders def: "A category of psychiatric disorders characterized by a disturbance in sexual desire and in the psychophysiological changes that make up the sexual response cycle." [NCIT:C92202] synonym: "sexual disorder" EXACT [DOID:0060043] xref: DOID:0060043 {source="MONDO:equivalentTo"} xref: NCIT:C92202 {source="MONDO:equivalentTo"} xref: SCTID:231532002 {source="MONDO:equivalentTo"} is_a: MONDO:0002025 {source="DOID:0060043", source="NCIT:C92202"} ! psychiatric disorder property_value: exactMatch DOID:0060043 property_value: exactMatch http://identifiers.org/snomedct/231532002 property_value: exactMatch NCIT:C92202 [Term] id: MONDO:0000602 name: autoimmune disorder of blood def: "A hypersensitivity reaction type II disease that involves the blood." [MONDO:patterns/location] synonym: "blood autoimmune disease" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "blood hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location] xref: DOID:0060050 {source="MONDO:equivalentTo"} is_a: EFO:0005803 ! hematologic disease is_a: EFO:0005809 {source="DOID:0060050", source="MONDO:Entailed", source="MONDO:Redundant"} ! type II hypersensitivity reaction disease property_value: exactMatch DOID:0060050 [Term] id: MONDO:0000603 name: autoimmune disorder of cardiovascular system def: "A hypersensitivity reaction type II disease that involves the cardiovascular system." [MONDO:patterns/location] synonym: "cardiovascular system autoimmune disease" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "cardiovascular system hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location] xref: DOID:0060051 {source="MONDO:equivalentTo"} is_a: EFO:0000319 {source="DOID:0060051", source="MONDO:Entailed", source="MONDO:Redundant"} ! cardiovascular disease is_a: EFO:0005809 {source="DOID:0060051", source="MONDO:Entailed", source="MONDO:Redundant"} ! type II hypersensitivity reaction disease property_value: exactMatch DOID:0060051 [Term] id: MONDO:0000608 name: familial juvenile hyperuricemic nephropathy subset: gard_rare synonym: "familial juvenile gouty nephropathy" EXACT [GARD:0000067] synonym: "familial juvenile hyperuricemic nephropathy" EXACT [GARD:0000067] synonym: "familial nephropathy associated with hyperuricemia" EXACT [GARD:0000067] synonym: "familial nephropathy with gout" EXACT [GARD:0000067] synonym: "FJHN" EXACT ABBREVIATION [GARD:0006806] synonym: "gouty nephropathy, familial" RELATED [GARD:0000067] synonym: "gouty nephropathy, familial juvenile" EXACT [GARD:0006806] synonym: "juvenile gout" EXACT [GARD:0006806] synonym: "juvenile gouty nephropathy" EXACT [GARD:0000067] synonym: "nephropathy, familial, with gout" EXACT [GARD:0006806] synonym: "tubulointerstitial kidney disease" EXACT [OMIMPS:162000] xref: DOID:0060062 {source="MONDO:equivalentTo"} xref: MESH:C537696 {source="MONDO:equivalentTo"} xref: OMIMPS:162000 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: SCTID:46785007 {source="MONDO:equivalentTo"} xref: UMLS:CN239392 {source="MONDO:equivalentTo"} is_a: MONDO:0100191 ! inherited kidney disorder property_value: exactMatch DOID:0060062 property_value: exactMatch http://identifiers.org/mesh/C537696 property_value: exactMatch http://identifiers.org/snomedct/46785007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239392 property_value: exactMatch https://omim.org/phenotypicSeries/PS162000 [Term] id: MONDO:0000611 name: pre-malignant neoplasm def: "A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer." [DOID:0060071, http://en.wikipedia.org/wiki/Neoplasm] xref: DOID:0060071 {source="MONDO:equivalentTo"} is_a: EFO:0000616 {source="DOID:0060071"} ! neoplasm is_a: MONDO:0021074 {source="MONDO:cjm"} ! precancerous condition property_value: exactMatch DOID:0060071 [Term] id: MONDO:0000612 name: lymphatic system cancer def: "A malignant neoplasm involving the lymphatic part of lymphoid system" [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of lymphatic part of lymphoid system" EXACT [MONDO:patterns/cancer] synonym: "lymphatic part of lymphoid system cancer" EXACT [MONDO:patterns/location] synonym: "malignant lymphatic part of lymphoid system neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of lymphatic part of lymphoid system" EXACT [MONDO:patterns/cancer] xref: DOID:0060073 {source="MONDO:equivalentTo"} is_a: EFO:0007352 {source="DOID:0060073", source="MONDO:Entailed", source="MONDO:Redundant"} ! lymphatic system disease is_a: MONDO:0000621 {source="DOID:0060073", source="MONDO:Entailed", source="MONDO:Redundant"} ! immune system cancer property_value: exactMatch DOID:0060073 [Term] id: MONDO:0000620 name: breast benign neoplasm def: "A non-metastasizing neoplasm arising from the breast parenchyma." [NCIT:P378] synonym: "benign breast neoplasm" EXACT [NCIT:C4505] synonym: "benign breast tumor" EXACT [NCIT:C4505] synonym: "benign breast tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of breast" EXACT [NCIT:C4505] synonym: "benign neoplasm of the breast" EXACT [NCIT:C4505] synonym: "benign tumor of breast" EXACT [NCIT:C4505] synonym: "benign tumor of the breast" EXACT [NCIT:C4505] synonym: "benign tumour of breast" EXACT OMO:0003005 [] synonym: "benign tumour of the breast" EXACT OMO:0003005 [] synonym: "breast benign neoplasm" EXACT [MONDO:patterns/location] xref: DOID:0060082 {source="MONDO:equivalentTo"} xref: ICD9:217 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C4505 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:269485000 {source="MONDO:equivalentTo"} is_a: EFO:0003869 {source="MONDO:Redundant", source="NCIT:C4505"} ! breast neoplasm is_a: MONDO:0000634 {source="DOID:0060082", source="MONDO:Redundant"} ! thoracic benign neoplasm property_value: exactMatch DOID:0060082 property_value: exactMatch http://identifiers.org/snomedct/269485000 property_value: exactMatch NCIT:C4505 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0000621 name: immune system cancer def: "A malignant neoplasm involving the immune system" [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of immune system" EXACT [MONDO:patterns/cancer] synonym: "immune system cancer" EXACT [MONDO:patterns/location] synonym: "malignant immune system neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of immune system" EXACT [MONDO:patterns/cancer] xref: DOID:0060083 {source="MONDO:equivalentTo"} is_a: EFO:0000540 {source="DOID:0060083", source="MONDO:Entailed", source="MONDO:Redundant"} ! immune system disease is_a: MONDO:0004992 {source="DOID:0060083", source="DOID:0060083/inferred", source="MONDO:Redundant"} ! cancer property_value: exactMatch DOID:0060083 [Term] id: MONDO:0000624 name: benign female reproductive system neoplasm def: "A non-metastasizing neoplasm that arises from the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, and benign ovarian germ cell tumor." [NCIT:C4934] synonym: "benign female reproductive system neoplasm" EXACT [NCIT:C4934] synonym: "benign female reproductive system tumor" EXACT [NCIT:C4934] synonym: "benign female reproductive system tumour" EXACT OMO:0003005 [] synonym: "benign gynecologic neoplasm" EXACT [NCIT:C4934] synonym: "benign gynecologic tumor" EXACT [NCIT:C4934] synonym: "benign gynecologic tumour" EXACT OMO:0003005 [] synonym: "female reproductive organ benign neoplasm" EXACT [MONDO:patterns/location] xref: DOID:0060086 {source="MONDO:equivalentTo"} xref: NCIT:C4934 {source="MONDO:equivalentTo"} xref: UMLS:C0744514 {source="MONDO:equivalentTo"} is_a: MONDO:0000383 {source="DOID:0060086", source="MONDO:Redundant", source="NCIT:C4934"} ! benign reproductive system neoplasm is_a: MONDO:0021148 {source="MONDO:Redundant", source="NCIT:C4934"} ! female reproductive system neoplasm property_value: exactMatch DOID:0060086 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0744514 property_value: exactMatch NCIT:C4934 [Term] id: MONDO:0000625 name: benign male reproductive system neoplasm def: "A non-metastasizing neoplasm that arises from the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, seminal vesicle cystadenoma, and epididymal adenomatoid tumor." [NCIT:C4777] synonym: "benign Male reproductive system neoplasm" EXACT [NCIT:C4777] synonym: "benign Male reproductive system tumor" EXACT [NCIT:C4777] synonym: "benign Male reproductive system tumour" EXACT OMO:0003005 [] synonym: "male reproductive organ benign neoplasm" EXACT [MONDO:patterns/location] xref: DOID:0060087 {source="MONDO:equivalentTo"} xref: NCIT:C4777 {source="MONDO:equivalentTo"} xref: UMLS:C0947786 {source="MONDO:equivalentTo", source="NCIT:C4777"} is_a: EFO:0009555 ! male reproductive system disease is_a: MONDO:0000383 {source="DOID:0060087", source="MONDO:Redundant", source="NCIT:C4777"} ! benign reproductive system neoplasm property_value: exactMatch DOID:0060087 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0947786 property_value: exactMatch NCIT:C4777 [Term] id: MONDO:0000627 name: benign endocrine neoplasm def: "A non-metastasizing, functioning or non-functioning neoplasm that arises from an endocrine organ. Representative examples include thyroid gland follicular adenoma and parathyroid gland adenoma." [NCIT:C4621] synonym: "benign endocrine gland neoplasm" EXACT [NCIT:C4621] synonym: "benign endocrine gland tumor" EXACT [NCIT:C4621] synonym: "benign endocrine gland tumour" EXACT OMO:0003005 [] synonym: "benign endocrine neoplasm" EXACT [NCIT:C4621] synonym: "benign endocrine tumor" EXACT [NCIT:C4621] synonym: "benign endocrine tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of endocrine gland" EXACT [NCIT:C4621] synonym: "benign neoplasm of the endocrine gland" EXACT [NCIT:C4621] synonym: "benign tumor of endocrine gland" EXACT [NCIT:C4621] synonym: "benign tumor of the endocrine gland" EXACT [NCIT:C4621] synonym: "benign tumour of endocrine gland" EXACT OMO:0003005 [] synonym: "benign tumour of the endocrine gland" EXACT OMO:0003005 [] synonym: "endocrine gland benign neoplasm" EXACT [MONDO:patterns/location] synonym: "endocrine organ benign neoplasm" EXACT [DOID:0060089] xref: DOID:0060089 {source="MONDO:equivalentTo"} xref: ICD9:227.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:227.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C4621 {source="MONDO:equivalentTo"} xref: SCTID:92085000 {source="MONDO:equivalentTo"} xref: UMLS:C0347524 {source="MONDO:equivalentTo", source="NCIT:C4621"} is_a: EFO:0002422 {source="DOID:0060089", source="DOID:0060089/inferred", source="MONDO:Redundant"} ! benign neoplasm is_a: EFO:0003769 {source="MONDO:Redundant", source="NCIT:C4621"} ! endocrine neoplasm property_value: exactMatch DOID:0060089 property_value: exactMatch http://identifiers.org/snomedct/92085000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347524 property_value: exactMatch NCIT:C4621 [Term] id: MONDO:0000628 name: central nervous system organ benign neoplasm def: "A benign neoplasm that involves the central nervous system." [MONDO:patterns/location] synonym: "central nervous system benign neoplasm" EXACT [MONDO:patterns/location] xref: DOID:0060090 {source="MONDO:equivalentTo"} is_a: EFO:1000158 ! Central Nervous System Neoplasm is_a: MONDO:0000648 {source="DOID:0060090", source="MONDO:Redundant"} ! nervous system benign neoplasm property_value: exactMatch DOID:0060090 [Term] id: MONDO:0000629 name: cardiovascular organ benign neoplasm def: "A benign neoplasm that involves the cardiovascular system." [MONDO:patterns/location] synonym: "cardiovascular system benign neoplasm" EXACT [MONDO:patterns/location] xref: DOID:0060091 {source="MONDO:equivalentTo"} is_a: EFO:0002422 {source="DOID:0060091", source="DOID:0060091/inferred", source="MONDO:Redundant"} ! benign neoplasm is_a: MONDO:0024757 ! cardiovascular neoplasm property_value: exactMatch DOID:0060091 [Term] id: MONDO:0000631 name: bone benign neoplasm def: "A neoplasm that arises from the bone or articular cartilage and does not invade adjacent tissues or metastasize to other anatomic sites." [NCIT:P378] synonym: "benign bone neoplasm" EXACT [NCIT:C4880] synonym: "benign bone tumor" EXACT [NCIT:C4880] synonym: "benign bone tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of bone" EXACT [NCIT:C4880] synonym: "benign neoplasm of the bone" EXACT [NCIT:C4880] synonym: "benign osseous neoplasm" EXACT [NCIT:C4880] synonym: "benign osseous tumor" EXACT [NCIT:C4880] synonym: "benign osseous tumour" EXACT OMO:0003005 [] synonym: "benign tumor of bone" EXACT [NCIT:C4880] synonym: "benign tumor of the bone" EXACT [NCIT:C4880] synonym: "benign tumour of bone" EXACT OMO:0003005 [] synonym: "benign tumour of the bone" EXACT OMO:0003005 [] synonym: "bone tissue benign neoplasm" EXACT [MONDO:patterns/location] xref: DOID:0060094 {source="MONDO:equivalentTo"} xref: ICD9:213.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C4880 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:92027006 {source="MONDO:equivalentTo"} is_a: EFO:0003820 ! bone neoplasm is_a: MONDO:0000654 {source="DOID:0060094", source="MONDO:Entailed", source="NCIT:C4880"} ! benign connective and soft tissue neoplasm property_value: exactMatch DOID:0060094 property_value: exactMatch http://identifiers.org/snomedct/92027006 property_value: exactMatch NCIT:C4880 [Term] id: MONDO:0000632 name: uterine benign neoplasm def: "A non-metastasizing neoplasm that arises from the uterine corpus or the cervix. Representative examples include leiomyoma, adenomyoma, and endocervical polyp." [NCIT:P378] synonym: "benign neoplasm of the uterus" EXACT [NCIT:C3609] synonym: "benign neoplasm of uterus" EXACT [NCIT:C3609] synonym: "benign tumor of the uterus" EXACT [NCIT:C3609] synonym: "benign tumor of uterus" EXACT [NCIT:C3609] synonym: "benign tumour of the uterus" EXACT OMO:0003005 [] synonym: "benign tumour of uterus" EXACT OMO:0003005 [] synonym: "benign uterine neoplasm" EXACT [NCIT:C3609] synonym: "benign uterine neoplasms" EXACT [NCIT:C3609] synonym: "benign uterine tumor" EXACT [NCIT:C3609] synonym: "benign uterine tumors" EXACT [NCIT:C3609] synonym: "benign uterine tumour" EXACT OMO:0003005 [] synonym: "benign uterine tumours" EXACT OMO:0003005 [] synonym: "benign uterus neoplasm" EXACT [NCIT:C3609] synonym: "benign uterus neoplasms" EXACT [NCIT:C3609] synonym: "benign uterus tumor" EXACT [NCIT:C3609] synonym: "benign uterus tumors" EXACT [NCIT:C3609] synonym: "benign uterus tumour" EXACT OMO:0003005 [] synonym: "benign uterus tumours" EXACT OMO:0003005 [] synonym: "uterine neoplasms, benign" EXACT [NCIT:C3609] synonym: "uterine tumors, benign" EXACT [NCIT:C3609] synonym: "Uterous neoplasms, benign" EXACT [NCIT:C3609] synonym: "Uterous tumors, benign" EXACT [NCIT:C3609] synonym: "uterus benign neoplasm" EXACT [MONDO:patterns/location] xref: DOID:0060095 {source="MONDO:equivalentTo"} xref: ICD9:219.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:219.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3609 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:92470003 {source="MONDO:equivalentTo"} xref: UMLS:C0153999 {source="NCIT:C3609", source="MONDO:equivalentTo"} is_a: EFO:0003859 {source="MONDO:Redundant", source="NCIT:C3609"} ! uterine neoplasm is_a: MONDO:0000624 {source="DOID:0060095", source="MONDO:Entailed", source="NCIT:C3609"} ! benign female reproductive system neoplasm property_value: exactMatch DOID:0060095 property_value: exactMatch http://identifiers.org/snomedct/92470003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153999 property_value: exactMatch NCIT:C3609 [Term] id: MONDO:0000633 name: sensory organ benign neoplasm def: "A benign neoplasm that involves the sense organ." [MONDO:patterns/location] synonym: "sense organ benign neoplasm" EXACT [MONDO:patterns/location] xref: DOID:0060096 {source="MONDO:equivalentTo"} is_a: MONDO:0000648 {source="DOID:0060096", source="MONDO:Entailed", source="MONDO:Redundant"} ! nervous system benign neoplasm property_value: exactMatch DOID:0060096 [Term] id: MONDO:0000634 name: thoracic benign neoplasm alt_id: MONDO:0021448 def: "A non-metastasizing neoplasm arising from any of the organs of the thoracic cavity. Representative examples include pleural adenomatoid tumor, chest wall lipoma, mediastinal schwannoma, and lung hamartoma." [NCIT:C4565] synonym: "benign neoplasm of the thorax" EXACT [NCIT:C4565] synonym: "benign neoplasm of thorax" EXACT [NCIT:C4565] synonym: "benign thoracic neoplasm" EXACT [NCIT:C4565] synonym: "benign thoracic tumor" EXACT [NCIT:C4565] synonym: "benign thoracic tumour" EXACT OMO:0003005 [] synonym: "benign tumor of the thorax" EXACT [NCIT:C4565] synonym: "benign tumor of thorax" EXACT [NCIT:C4565] synonym: "benign tumour of the thorax" EXACT OMO:0003005 [] synonym: "benign tumour of thorax" EXACT OMO:0003005 [] synonym: "thoracic segment of trunk benign neoplasm" EXACT [MONDO:patterns/location] xref: DOID:0060097 {source="MONDO:equivalentTo"} xref: ICD9:229.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4565 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:255059002 {source="MONDO:equivalentTo"} xref: UMLS:C0346440 {source="MONDO:equivalentTo", source="NCIT:C4565"} is_a: EFO:0002422 {source="DOID:0060097", source="DOID:0060097/inferred", source="MONDO:Redundant"} ! benign neoplasm is_a: MONDO:0021350 {source="MONDO:Redundant", source="NCIT:C4565"} ! neoplasm of thorax property_value: exactMatch DOID:0060097 property_value: exactMatch http://identifiers.org/snomedct/255059002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346440 property_value: exactMatch NCIT:C4565 [Term] id: MONDO:0000636 name: musculoskeletal system benign neoplasm def: "A benign neoplasm that involves the musculoskeletal system." [MONDO:patterns/location] synonym: "musculoskeletal system benign neoplasm" EXACT [MONDO:patterns/location] xref: DOID:0060099 {source="MONDO:equivalentTo"} is_a: EFO:0002422 {source="DOID:0060099", source="DOID:0060099/inferred", source="MONDO:Redundant"} ! benign neoplasm is_a: EFO:0009676 {source="DOID:0060099", source="MONDO:Entailed", source="MONDO:Redundant"} ! musculoskeletal system disease property_value: exactMatch DOID:0060099 [Term] id: MONDO:0000637 name: musculoskeletal system cancer def: "A malignant neoplasm involving the musculoskeletal system" [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of musculoskeletal system" EXACT [MONDO:patterns/cancer] synonym: "malignant musculoskeletal system neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of musculoskeletal system" EXACT [MONDO:patterns/cancer] synonym: "musculoskeletal system cancer" EXACT [MONDO:patterns/location] synonym: "skeletal system cancer" RELATED [DOID:0060100] xref: DOID:0060100 {source="MONDO:equivalentTo"} is_a: EFO:0009676 {source="DOID:0060100", source="MONDO:Entailed", source="MONDO:Redundant"} ! musculoskeletal system disease is_a: MONDO:0004992 {source="DOID:0060100", source="DOID:0060100/inferred", source="MONDO:Redundant"} ! cancer property_value: exactMatch DOID:0060100 [Term] id: MONDO:0000638 name: benign glioma def: "A form of glioma without malignant characteristics." [MONDO:patterns/benign] synonym: "glioma, benign" EXACT [MONDO:patterns/benign] xref: DOID:0060101 {source="MONDO:equivalentObsolete"} is_a: EFO:0005543 ! glioma is_a: MONDO:0000648 ! nervous system benign neoplasm [Term] id: MONDO:0000640 name: central nervous system primitive neuroectodermal neoplasm def: "A neuroectodermal tumor that involves the central nervous system." [MONDO:patterns/location] comment: NCIT calls this CNS embryonal tumor, NOS synonym: "central nervous system neuroectodermal tumor" EXACT [MONDO:patterns/location] synonym: "central nervous system neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "central nervous system PNET" EXACT [NCIT:C5398] synonym: "central nervous system primitive neuroectodermal neoplasm" EXACT [NCIT:C5398] synonym: "central nervous system primitive neuroectodermal tumor" EXACT [MONDO:patterns/location, NCIT:C5398] synonym: "central nervous system primitive neuroectodermal tumor (WHO grade IV)" EXACT [NCIT:C5398] synonym: "central nervous system primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "central nervous system primitive neuroectodermal tumour (WHO grade IV)" EXACT OMO:0003005 [] synonym: "central primitive neuroectodermal neoplasm" EXACT [NCIT:C5398] synonym: "central primitive neuroectodermal tumor" EXACT [NCIT:C5398] synonym: "central primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "CNS PNET" EXACT [NCIT:C5398] synonym: "CNS primitive neuroectodermal neoplasm" EXACT [NCIT:C5398] synonym: "CNS primitive neuroectodermal tumor" EXACT [NCIT:C5398] synonym: "CNS primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "primitive neuroectodermal tumor of central nervous system" EXACT [MONDO:design_pattern] synonym: "primitive neuroectodermal tumour of central nervous system" EXACT OMO:0003005 [] xref: DOID:0060103 {source="MONDO:equivalentTo"} xref: NCIT:C5398 {source="MONDO:equivalentTo"} xref: UMLS:CN201960 {source="MONDO:equivalentTo"} is_a: EFO:0000326 {source="DOID:0060103", source="MONDO:Entailed", source="NCIT:C5398/inferred"} ! central nervous system cancer is_a: EFO:0005235 {source="DOID:0060103", source="MONDO:Entailed", source="MONDO:Redundant"} ! primitive neuroectodermal tumor property_value: exactMatch DOID:0060103 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201960 property_value: exactMatch NCIT:C5398 [Term] id: MONDO:0000643 name: vulvar benign neoplasm def: "A non-metastasizing neoplasm that arises from the vulva. Representative examples include cellular angiofibroma, melanocytic nevus, nodular hidradenoma, and Bartholin gland adenoma." [NCIT:P378] synonym: "benign neoplasm of the vulva" EXACT [NCIT:C3611] synonym: "benign neoplasm of vulva" EXACT [NCIT:C3611] synonym: "benign tumor of the vulva" EXACT [NCIT:C3611] synonym: "benign tumor of vulva" EXACT [NCIT:C3611] synonym: "benign tumour of the vulva" EXACT OMO:0003005 [] synonym: "benign tumour of vulva" EXACT OMO:0003005 [] synonym: "benign vulva neoplasm" EXACT [NCIT:C3611] synonym: "benign vulva tumor" EXACT [NCIT:C3611] synonym: "benign vulva tumour" EXACT OMO:0003005 [] synonym: "benign vulval neoplasm" EXACT [NCIT:C3611] synonym: "benign vulvar neoplasm" EXACT [NCIT:C3611] synonym: "benign vulvar tumor" EXACT [NCIT:C3611] synonym: "benign vulvar tumour" EXACT OMO:0003005 [] synonym: "mammalian vulva benign neoplasm" EXACT [MONDO:patterns/location] synonym: "vulva benign neoplasm" EXACT [MONDO:patterns/location] xref: DOID:0060109 {source="MONDO:equivalentTo"} xref: NCIT:C3611 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:92486005 {source="MONDO:equivalentTo"} xref: UMLS:C0154003 {source="MONDO:equivalentTo", source="NCIT:C3611"} is_a: MONDO:0000624 {source="DOID:0060109", source="MONDO:Redundant", source="NCIT:C3611"} ! benign female reproductive system neoplasm is_a: MONDO:0021049 {source="MONDO:Redundant", source="NCIT:C3611"} ! vulvar neoplasm property_value: exactMatch DOID:0060109 property_value: exactMatch http://identifiers.org/snomedct/92486005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154003 property_value: exactMatch NCIT:C3611 [Term] id: MONDO:0000647 name: benign vaginal neoplasm def: "A non-metastasizing neoplasm that arises from the vagina. Representative examples include squamous papilloma and melanocytic nevus." [NCIT:C3610] synonym: "benign neoplasm of the vagina" EXACT [NCIT:C3610] synonym: "benign neoplasm of vagina" EXACT [NCIT:C3610] synonym: "benign tumor of the vagina" EXACT [NCIT:C3610] synonym: "benign tumor of vagina" EXACT [NCIT:C3610] synonym: "benign tumour of the vagina" EXACT OMO:0003005 [] synonym: "benign tumour of vagina" EXACT OMO:0003005 [] synonym: "benign vaginal neoplasm" EXACT [NCIT:C3610] synonym: "benign vaginal neoplasms" EXACT [NCIT:C3610] synonym: "benign vaginal tumor" EXACT [NCIT:C3610] synonym: "benign vaginal tumour" EXACT OMO:0003005 [] synonym: "vagina benign neoplasm" EXACT [MONDO:patterns/location] synonym: "vagina female reproductive organ benign neoplasm" EXACT [MONDO:patterns/location] synonym: "vaginal benign neoplasm" EXACT [DOID:0060114] xref: DOID:0060114 {source="MONDO:equivalentTo"} xref: ICD9:221.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3610 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:92473001 {source="MONDO:equivalentTo"} xref: UMLS:C0154002 {source="MONDO:equivalentTo", source="NCIT:C3610"} is_a: EFO:1001447 {source="MONDO:Redundant", source="NCIT:C3610"} ! Vaginal neoplasm is_a: MONDO:0000624 {source="DOID:0060114", source="MONDO:Redundant", source="NCIT:C3610"} ! benign female reproductive system neoplasm property_value: exactMatch DOID:0060114 property_value: exactMatch http://identifiers.org/snomedct/92473001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154002 property_value: exactMatch NCIT:C3610 [Term] id: MONDO:0000648 name: nervous system benign neoplasm def: "Abnormal growth of cells in the nervous system without evidence of malignant characteristics. Unlike other organ systems, tumors in the central nervous system can have benign histological characteristics but still have life threatening effects due to their location within the neuraxis (e.g., brainstem gliomas)." [NCIT:P378] synonym: "benign neoplasm of nervous system" EXACT [NCIT:C4789] synonym: "benign neoplasm of the nervous system" EXACT [NCIT:C4789] synonym: "benign nervous system neoplasm" EXACT [NCIT:C4789] synonym: "benign nervous system tumor" EXACT [NCIT:C4789] synonym: "benign nervous system tumour" EXACT OMO:0003005 [] synonym: "benign tumor of nervous system" EXACT [NCIT:C4789] synonym: "benign tumor of the nervous system" EXACT [NCIT:C4789] synonym: "benign tumour of nervous system" EXACT OMO:0003005 [] synonym: "benign tumour of the nervous system" EXACT OMO:0003005 [] synonym: "nervous system benign neoplasm" EXACT [MONDO:patterns/location] synonym: "nervous system neoplasm, benign" EXACT [NCIT:C4789] xref: DOID:0060115 {source="MONDO:equivalentTo"} xref: ICD9:225.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:225.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C4789 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:92247009 {source="MONDO:equivalentTo"} xref: UMLS:C0497550 {source="MONDO:equivalentTo", source="NCIT:C4789"} is_a: EFO:0002422 {source="DOID:0060115", source="DOID:0060115/inferred", source="MONDO:Redundant"} ! benign neoplasm is_a: MONDO:0021248 {source="MONDO:Redundant", source="NCIT:C4789"} ! nervous system neoplasm property_value: exactMatch DOID:0060115 property_value: exactMatch http://identifiers.org/snomedct/92247009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0497550 property_value: exactMatch NCIT:C4789 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0000649 name: sensory system cancer def: "A malignant neoplasm involving the sensory system" [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of sensory system" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of sensory system" EXACT [MONDO:patterns/cancer] synonym: "malignant sensory system neoplasm" EXACT [MONDO:patterns/cancer] synonym: "sensory system cancer" EXACT [MONDO:patterns/location] xref: DOID:0060116 {source="MONDO:equivalentTo"} is_a: EFO:0007392 {source="DOID:0060116", source="MONDO:Entailed", source="MONDO:Redundant"} ! nervous system cancer property_value: exactMatch DOID:0060116 [Term] id: MONDO:0000650 name: peritoneal benign neoplasm def: "A non-metastasizing neoplasm that arises from the peritoneal cavity. Representative examples include adenomatoid tumor and disseminated peritoneal leiomyomatosis." [NCIT:C8612] synonym: "benign peritoneal neoplasm" EXACT [NCIT:C8612] synonym: "peritoneum benign neoplasm" EXACT [MONDO:patterns/location] xref: DOID:0060117 {source="MONDO:equivalentTo"} xref: NCIT:C8612 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C0496874 {source="MONDO:equivalentTo", source="NCIT:C8612"} is_a: EFO:0002422 {source="DOID:0060117", source="DOID:0060117/inferred", source="MONDO:Redundant"} ! benign neoplasm is_a: EFO:1001100 {source="MONDO:Redundant", source="NCIT:C8612"} ! peritoneal neoplasm property_value: exactMatch DOID:0060117 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0496874 property_value: exactMatch NCIT:C8612 [Term] id: MONDO:0000652 name: integumentary system benign neoplasm def: "A benign neoplasm that involves the integumental system." [MONDO:patterns/location] synonym: "integumental system benign neoplasm" EXACT [MONDO:patterns/location] xref: DOID:0060121 {source="MONDO:equivalentTo"} is_a: EFO:0002422 {source="DOID:0060121", source="DOID:0060121/inferred", source="MONDO:Redundant"} ! benign neoplasm is_a: EFO:0010285 {source="DOID:0060121", source="MONDO:Entailed", source="MONDO:Redundant"} ! integumentary system disease property_value: exactMatch DOID:0060121 [Term] id: MONDO:0000653 name: integumentary system cancer def: "A malignant neoplasm involving the integumental system" [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of integumental system" EXACT [MONDO:patterns/cancer] synonym: "integumental system cancer" EXACT [MONDO:patterns/location] synonym: "malignant integumental system neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of integumental system" EXACT [MONDO:patterns/cancer] xref: DOID:0060122 {source="MONDO:equivalentTo"} is_a: EFO:0010285 {source="DOID:0060122", source="MONDO:Entailed", source="MONDO:Redundant"} ! integumentary system disease is_a: MONDO:0004992 {source="DOID:0060122", source="DOID:0060122/inferred", source="MONDO:Redundant"} ! cancer property_value: exactMatch DOID:0060122 [Term] id: MONDO:0000654 name: benign connective and soft tissue neoplasm def: "A non-metastasizing neoplasm that arises from the connective and soft tissue. Representative examples include lipoma, leiomyoma, fibroma, and osteoma." [NCIT:C53684] synonym: "benign connective and soft tissue neoplasm" EXACT [NCIT:C53684] synonym: "benign connective and soft tissue tumor" EXACT [NCIT:C53684] synonym: "benign connective and soft tissue tumour" EXACT OMO:0003005 [] synonym: "benign mesenchymal cell neoplasm" EXACT [NCIT:C53684] synonym: "benign neoplasm of the soft tissue and bone" EXACT [NCIT:C53684] synonym: "benign tumor of the soft tissue and bone" EXACT [NCIT:C53684] synonym: "benign tumour of the soft tissue and bone" EXACT OMO:0003005 [] synonym: "connective and soft tissue neoplasm, benign" EXACT [MONDO:patterns/benign, NCIT:C53684] synonym: "connective tissue benign neoplasm" EXACT [MONDO:patterns/location] synonym: "neoplasm of soft tissue" RELATED [DOID:0060123] synonym: "neoplasm of soft tissues" RELATED [DOID:0060123] synonym: "soft tissue benign neoplasm" RELATED [DOID:0060123] synonym: "tumor of the soft tissue" RELATED [DOID:0060123, NCIT:C3377] synonym: "tumour of the soft tissue" RELATED OMO:0003005 [] xref: DOID:0060123 {source="MONDO:equivalentTo"} xref: NCIT:C3377 {source="DOID:0060123", source="MONDO:directSiblingOf"} xref: NCIT:C53684 {source="MONDO:equivalentTo"} xref: SCTID:387837005 {source="DOID:0060123", source="MONDO:directSiblingOf"} is_a: EFO:1001986 {source="DOID:0060123", source="MONDO:Redundant"} ! connective tissue disease is_a: MONDO:0000636 {source="DOID:0060123", source="MONDO:Entailed"} ! musculoskeletal system benign neoplasm is_a: MONDO:0044334 {source="MONDO:Redundant", source="NCIT:C53684"} ! connective and soft tissue neoplasm property_value: exactMatch DOID:0060123 property_value: exactMatch NCIT:C53684 [Term] id: MONDO:0000661 name: alexithymia def: "An agnosia that is a deficiency in understanding, processing, or describing emotions." [DOID:0060131, http://en.wikipedia.org/wiki/Agnosia] xref: DOID:0060131 {source="MONDO:equivalentTo"} is_a: EFO:0007136 {source="DOID:0060131"} ! agnosia property_value: exactMatch DOID:0060131 [Term] id: MONDO:0000665 name: apraxia def: "Apraxia is a neurological disorder characterized by the inability to perform tasks or movements, despite having the desire and physical ability to perform them. It is caused by damage to the brain, especially the parietal lobe, and can arise from many diseases, tumors, a stroke, or traumatic brain injury. In some cases it is present from birth. There are several types of apraxia, which may occur alone or together. These include: Buccofacial or orofacial apraxia is the inability to carry out facial movements on demand. This may include licking the lips, sticking out the tongue, whistling, coughing, or winking. Ideational apraxia is the inability to carryout learned, complex tasks with multiple, sequential movements. This may include dressing, eating, and bathing. Ideomotor apraxia is the inability to perform a learned task (such as using a tool) or communicate using gestures (like waving good-bye). Limb-kinetic apraxia is the inability to make fine, precise movements with an arm or leg. This may include buttoning a shirt or tying a shoe. Verbal apraxia is difficulty coordinating mouth and speech movements. Verbal apraxia may be acquired or present from birth. Constructional apraxia is the inability to copy, draw, or construct simple figures. Oculomotor apraxia is difficulty moving the eyes on command. Treatment of apraxia may include physical, speech, or occupational therapy. If apraxia occurs as a symptom of another disorder, treatment should be directed to the underlying condition." [https://rarediseases.info.nih.gov/diseases/5838/apraxia] subset: gard_rare {source="GARD:0005838"} synonym: "Apraxias" EXACT [MESH:D001072] synonym: "dyspraxia" EXACT [GARD:0005838] xref: DOID:0060135 {source="MONDO:equivalentTo"} xref: ICD10CM:R48.2 {source="MONDO:equivalentTo"} xref: MESH:D001072 {source="MONDO:equivalentTo"} xref: NCIT:C180557 {source="MONDO:equivalentTo"} is_a: MONDO:0024417 {source="MONDO:cjm"} ! perceptual disorders property_value: exactMatch DOID:0060135 property_value: exactMatch http://identifiers.org/mesh/D001072 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/R48.2 property_value: exactMatch NCIT:C180557 property_value: excluded_subClassOf MONDO:0005638 {source="DOID:0060135"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5838/apraxia xsd:anyURI {source="GARD:0005838"} [Term] id: MONDO:0000688 name: inborn organic aciduria def: "An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage." [NCIT:C101334] subset: disease_grouping subset: gard_rare {source="GARD:0009433"} subset: ordo_group_of_disorders {source="Orphanet:289899"} synonym: "disorder of organic acid metabolism" BROAD [NCIT:C101334] synonym: "inborn error of organic acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn organic acid metabolic process disorder" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inherited organic acidemia" RELATED [MONDO:patterns/inborn_metabolic] synonym: "organic acid metabolism disorder" BROAD [DOID:0060159] synonym: "organic acidemia" EXACT [DOID:0060159, GARD:0009433] synonym: "organic aciduria" EXACT [DOID:0060159, MONDO:0017358] synonym: "rare inborn error of organic acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] xref: DOID:0060159 {source="MONDO:equivalentTo"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C101334 {source="MONDO:equivalentTo"} xref: Orphanet:289899 {source="MONDO:equivalentTo"} xref: UMLS:C1263739 {source="MONDO:equivalentTo", source="NCIT:C101334"} is_a: MONDO:0004736 {source="PMID:33340416"} ! inborn disorder of amino acid metabolism property_value: exactMatch DOID:0060159 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1263739 property_value: exactMatch NCIT:C101334 property_value: exactMatch Orphanet:289899 property_value: excluded_subClassOf MONDO:0019052 {source="DOID:0060159/inferred", source="MONDO:Redundant", source="NCIT:C101334", source="Orphanet:289899/inferred"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9433/organic-acidemia xsd:anyURI {source="GARD:0009433"} [Term] id: MONDO:0000698 name: gamma-amino butyric acid metabolism disorder def: "An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway." [DOID:0060176, PMID:12891648] xref: DOID:0060176 {source="MONDO:equivalentTo"} is_a: MONDO:0004736 {source="DOID:0060176", source="MONDO:Entailed"} ! inborn disorder of amino acid metabolism is_a: MONDO:0019224 ! inborn disorder of gamma-aminobutyric acid metabolism property_value: exactMatch DOID:0060176 [Term] id: MONDO:0000700 name: familial hemiplegic migraine def: "A migraine disorder characterized by individual and family history of aura that includes motor weakness." [NCIT:C117009] synonym: "familial hemiplegic migraine" EXACT [] synonym: "FHM" EXACT ABBREVIATION [OMIM:141500] synonym: "hemiplegic migraine, familial" RELATED [GARD:0010975] synonym: "hemiplegic-ophthalmoplegic migraine" RELATED [MONDO:cjm] synonym: "hereditary hemiplegic migraine" EXACT [MONDO:patterns/hereditary] xref: DOID:0060178 {source="MONDO:equivalentTo"} xref: ICD9:346.8 {source="DOID:0060178"} xref: NCIT:C117009 {source="MONDO:equivalentTo"} xref: OMIMPS:141500 {source="MONDO:equivalentTo"} xref: Orphanet:569 {source="DOID:0060178", source="MONDO:relatedTo"} xref: SCTID:95656000 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0018925 {source="MONDO:Redundant", source="MONDO:cjm"} ! familial or sporadic hemiplegic migraine intersection_of: MONDO:0018925 ! familial or sporadic hemiplegic migraine intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch DOID:0060178 property_value: exactMatch http://identifiers.org/snomedct/95656000 property_value: exactMatch https://omim.org/phenotypicSeries/PS141500 property_value: exactMatch NCIT:C117009 [Term] id: MONDO:0000701 name: ischemic colitis def: "Inflammation of the colon due to colonic ischemia resulting from alterations in systemic circulation or local vasculature." [MESH:D017091] synonym: "colonic ischemia" RELATED [MONDO:cjm] xref: DOID:0060181 {source="MONDO:equivalentTo"} xref: MESH:D017091 {source="MONDO:equivalentTo", source="DOID:0060181"} xref: SCTID:30588004 {source="MONDO:equivalentTo", source="DOID:0060181"} xref: UMLS:C0162529 {source="MONDO:equivalentTo", source="DOID:0060181"} is_a: EFO:0003872 {source="DOID:0060181", source="MESH:D017091", source="MONDO:Redundant"} ! colitis is_a: EFO:0004264 {source="MESH:D017091"} ! vascular disease intersection_of: EFO:0003872 ! colitis intersection_of: disease_arises_from_feature MONDO:0005053 ! ischemic disease relationship: disease_arises_from_feature MONDO:0005053 ! ischemic disease property_value: exactMatch DOID:0060181 property_value: exactMatch http://identifiers.org/mesh/D017091 property_value: exactMatch http://identifiers.org/snomedct/30588004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162529 [Term] id: MONDO:0000709 name: Crohn ileitis def: "An Crohn disease involving a pathogenic inflammatory response in the ileum." [MONDO:patterns/specific_inflammatory_disease_by_site] synonym: "Crohn's ileitis" EXACT [DOID:0060189] synonym: "ileitis" RELATED [DOID:0060189] xref: CSP:1248-5305 {source="DOID:0060189"} xref: DOID:0060189 {source="MONDO:equivalentTo"} xref: ICD9:558.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10021312 {source="DOID:0060189"} xref: MESH:D007079 {source="DOID:0060189", source="MONDO:equivalentTo"} xref: NCIT:C35329 {source="MONDO:equivalentTo"} xref: NDFRT:N0000001662 {source="DOID:0060189"} xref: SCTID:52457000 {source="DOID:0060189", source="MONDO:equivalentTo"} xref: UMLS:C0020877 {source="DOID:0060189", source="MONDO:equivalentTo"} is_a: EFO:0005629 ! small bowel Crohn's disease property_value: closeMatch http://identifiers.org/meddra/10021312 property_value: exactMatch DOID:0060189 property_value: exactMatch http://identifiers.org/mesh/D007079 property_value: exactMatch http://identifiers.org/snomedct/52457000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020877 property_value: exactMatch NCIT:C35329 [Term] id: MONDO:0000721 name: xanthinuria def: "A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine." [https://www.sciencedirect.com/topics/medicine-and-dentistry/xanthinuria] xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:190919008 {source="MONDO:equivalentTo"} is_a: EFO:0000589 {source="MONDO:Redundant"} ! metabolic disease property_value: exactMatch http://identifiers.org/snomedct/190919008 [Term] id: MONDO:0000722 name: non-syndromic synpolydactyly def: "A synpolydactyly that is not part of a larger syndrome." [MONDO:patterns/isolated] synonym: "isolated synpolydactyly" EXACT [] synonym: "nonsyndromic synpolydactyly" EXACT [MONDO:patterns/isolated] synonym: "synpolydactyly" RELATED [DOID:0060242] xref: DOID:0060242 {source="MONDO:equivalentTo"} xref: MESH:C538153 {source="DOID:0060242", source="MONDO:relatedTo"} xref: NCIT:C75003 {source="DOID:0060242", source="MONDO:relatedTo"} is_a: MONDO:0011348 ! non-syndromic polydactyly is_a: MONDO:0019530 {source="DOID:0060242"} ! non-syndromic syndactyly is_a: MONDO:0021651 ! synpolydactyly intersection_of: MONDO:0021651 ! synpolydactyly intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation property_value: exactMatch DOID:0060242 [Term] id: MONDO:0000726 name: idiopathic scoliosis def: "A scoliosis with no known cause." [DOID:0060250, http://en.wikipedia.org/wiki/Scoliosis, PMID:25954032] xref: DOID:0060250 {source="MONDO:equivalentTo"} xref: SCTID:203639008 {source="MONDO:equivalentTo"} xref: UMLS:CN241052 {source="MONDO:equivalentTo"} is_a: EFO:0004273 {source="DOID:0060250"} ! scoliosis is_a: MONDO:0700007 ! idiopathic disease intersection_of: EFO:0004273 ! scoliosis intersection_of: has_characteristic MONDO:0700005 ! idiopathic property_value: exactMatch DOID:0060250 property_value: exactMatch http://identifiers.org/snomedct/203639008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN241052 [Term] id: MONDO:0000727 name: scapuloperoneal myopathy def: "A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm." [DOID:0060253, PMID:28179901] synonym: "myopathy, scapuloperoneal" RELATED [MESH:C536624] synonym: "scapuloperoneal syndrome, myopathic type" RELATED [MESH:C536624] xref: DOID:0060253 {source="MONDO:equivalentTo"} xref: MESH:C536624 {source="MONDO:equivalentTo"} xref: UMLS:C2931268 {source="MONDO:equivalentTo"} is_a: MONDO:0016830 {source="MESH:C536624"} ! Emery-Dreifuss muscular dystrophy property_value: exactMatch DOID:0060253 property_value: exactMatch http://identifiers.org/mesh/C536624 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931268 [Term] id: MONDO:0000728 name: ptosis def: "The drooping of the upper eyelid." [NCIT:P378] synonym: "blepharoptosis" EXACT [DOID:0060260] synonym: "drooping eyelid" EXACT [DOID:0060260] synonym: "eyelid ptosis" EXACT [NCIT:C27298] synonym: "ptosis" EXACT [MONDO:ambiguous] synonym: "ptosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0060260 {source="MONDO:equivalentTo"} xref: HP:0000508 {source="MONDO:otherHierarchy", source="DOID:0060260"} xref: ICD9:374.3 {source="DOID:0060260"} xref: ICD9:374.30 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:0060260"} xref: MESH:D001763 {source="MONDO:equivalentTo", source="DOID:0060260"} xref: NCIT:C27298 {source="MONDO:equivalentTo", source="DOID:0060260"} xref: SCTID:11934000 {source="MONDO:equivalentTo", source="DOID:0060260"} xref: UMLS:C0005745 {source="NCIT:C27298", source="MONDO:equivalentTo", source="DOID:0060260"} xref: UMLS:C0033377 {source="MONDO:equivalentTo"} is_a: EFO:0003966 {source="DOID:0060260", source="MESH:D001763/inferred"} ! eye disease property_value: exactMatch DOID:0060260 property_value: exactMatch http://identifiers.org/mesh/D001763 property_value: exactMatch http://identifiers.org/snomedct/11934000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005745 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033377 property_value: exactMatch NCIT:C27298 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000589 "ptosis (disease)" xsd:string [Term] id: MONDO:0000732 name: combined oxidative phosphorylation deficiency def: "A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes." [MONDO:cjm] subset: gard_rare {source="GARD:0012893"} xref: DOID:0060286 {source="MONDO:equivalentTo"} xref: OMIMPS:609060 {source="MONDO:cjm", source="MONDO:equivalentTo"} is_a: MONDO:0016387 {source="MONDO:cjm"} ! mitochondrial oxidative phosphorylation disorder property_value: exactMatch DOID:0060286 property_value: exactMatch https://omim.org/phenotypicSeries/PS609060 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12893/combined-oxidative-phosphorylation-deficiency xsd:anyURI {source="GARD:0012893"} [Term] id: MONDO:0000733 name: cornea plana synonym: "flat cornea" EXACT [DOID:0060287] xref: DOID:0060287 {source="MONDO:equivalentTo"} xref: HP:0007720 {source="DOID:0060287", source="MONDO:otherHierarchy"} xref: OMIMPS:121400 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: SCTID:204145006 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0009464 {source="DOID:0060287"} ! corneal disease property_value: exactMatch DOID:0060287 property_value: exactMatch http://identifiers.org/snomedct/204145006 property_value: exactMatch https://omim.org/phenotypicSeries/PS121400 [Term] id: MONDO:0000734 name: Ohdo syndrome and variants synonym: "Ohdo blepharophimosis syndrome" NARROW [DOID:0060289] synonym: "Ohdo syndrome" RELATED [DOID:0060289] xref: DOID:0060289 {source="MONDO:equivalentTo"} is_a: MONDO:0017393 {source="MONDO:cjm"} ! blepharophimosis - intellectual disability syndrome property_value: exactMatch DOID:0060289 [Term] id: MONDO:0000736 name: dyschromatosis universalis hereditaria def: "A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution." [DOID:0060304, http://en.wikipedia.org/wiki/Dyschromatosis_universalis_hereditaria, PMID:12372090] subset: gard_rare {source="GARD:0001996"} subset: ordo_disease {source="Orphanet:241"} synonym: "DUH" RELATED ABBREVIATION [GARD:0001996] synonym: "dyschromatosis universalis" EXACT [MONDO:0007484] xref: DOID:0060304 {source="MONDO:equivalentTo"} xref: MESH:C535730 {source="MONDO:equivalentTo", source="DOID:0060304"} xref: NCIT:C173131 {source="MONDO:equivalentTo"} xref: OMIMPS:127500 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:241 {source="MONDO:equivalentTo", source="OMIM:127500", source="DOID:0060304"} xref: SCTID:239082002 {source="MONDO:equivalentTo"} xref: UMLS:C1306229 {source="Orphanet:241/e", source="MONDO:equivalentTo", source="Orphanet:241"} xref: UMLS:C2930995 {source="MONDO:equivalentTo", source="DOID:0060304"} is_a: MONDO:0019289 {source="Orphanet:241"} ! hyperpigmentation of the skin is_a: MONDO:0100118 ! hereditary skin disorder property_value: exactMatch DOID:0060304 property_value: exactMatch http://identifiers.org/mesh/C535730 property_value: exactMatch http://identifiers.org/snomedct/239082002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1306229 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930995 property_value: exactMatch https://omim.org/phenotypicSeries/PS127500 property_value: exactMatch NCIT:C173131 property_value: exactMatch Orphanet:241 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1996/dyschromatosis-universalis-hereditaria xsd:anyURI {source="GARD:0001996"} [Term] id: MONDO:0000761 name: syndrome caused by partial chromosomal deletion def: "A chromosomal disorder consisting of the absence of a part of a chromosome." [https://orcid.org/0000-0002-4142-7153] comment: Editor note: this is used in DOID to encompass typically partial deletions synonym: "chromosomal deletion syndrome" RELATED [DOID:0060388] synonym: "microdeletion syndrome" EXACT [https://github.com/monarch-initiative/mondo/issues/5236, https://orcid.org/0000-0002-4142-7153] xref: DOID:0060388 {source="MONDO:equivalentTo"} is_a: MONDO:0019040 {source="DOID:0060388"} ! chromosomal disorder property_value: exactMatch DOID:0060388 [Term] id: MONDO:0000762 name: syndrome caused by partial chromosomal duplication def: "A chromosomal disorder consisting of the presence of a part of a chromosome in more copies than in a regular genome." [https://orcid.org/0000-0002-4142-7153] comment: This term includes partial trisomy (one additional copy of a chromosome part), and partial tetrasomy (2 additional copies of a chromosome part).\n\nEditor note: this is used in DOID to encompass typically partial duplications synonym: "chromosomal duplication syndrome" RELATED [DOID:0060429] synonym: "microduplication sydrome" EXACT [https://github.com/monarch-initiative/mondo/issues/5236, https://orcid.org/0000-0002-4142-7153] xref: DOID:0060429 {source="MONDO:equivalentTo"} is_a: MONDO:0019040 {source="DOID:0060429"} ! chromosomal disorder property_value: exactMatch DOID:0060429 [Term] id: MONDO:0000763 name: epithelial and subepithelial corneal dystrophy synonym: "epithelial and subepithelial dystrophy" RELATED [DOID:0060440, https://www.webmedcentral.com/wmcpdf/Article_WMC001598.pdf] xref: DOID:0060440 {source="MONDO:equivalentTo"} is_a: MONDO:0018102 {source="DOID:0060440"} ! corneal dystrophy property_value: exactMatch DOID:0060440 [Term] id: MONDO:0000764 name: epithelial-stromal TGFBI dystrophy def: "Any corneal dystrophy (disease) in which the cause of the disease is a mutation in the TGFBI gene." [MONDO:design_pattern] synonym: "corneal dystrophy (disease) caused by mutation in TGFBI" EXACT [] synonym: "TGFBI corneal dystrophy (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0060441 {source="MONDO:equivalentTo"} is_a: MONDO:0018102 {source="DOID:0060441", source="MONDO:Redundant"} ! corneal dystrophy property_value: exactMatch DOID:0060441 [Term] id: MONDO:0000766 name: corneal endothelial dystrophy def: "A corneal dystrophy (disease) that involves the corneal epithelium." [MONDO:design_pattern] synonym: "corneal dystrophy (disease) of corneal epithelium" EXACT [] synonym: "endothelial dystrophy" RELATED [DOID:0060443] xref: DOID:0060443 {source="MONDO:equivalentTo"} xref: ICD9:371.57 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:416960004 {source="MONDO:equivalentTo"} is_a: MONDO:0018102 {source="DOID:0060443", source="MONDO:Redundant"} ! corneal dystrophy property_value: exactMatch DOID:0060443 property_value: exactMatch http://identifiers.org/snomedct/416960004 [Term] id: MONDO:0000771 name: allergic respiratory disease def: "A respiratory system disease with a basis in a pathological type I hypersensitivity reaction." [MONDO:patterns/allergic_form_of_disease] synonym: "airway allergy" EXACT [DOID:0060496] synonym: "allergic form of respiratory system disease" EXACT [MONDO:patterns/allergic_form_of_disease] synonym: "allergic respiratory system disease" EXACT [] synonym: "respiratory allergy" EXACT [] xref: DOID:0060496 {source="MONDO:equivalentTo"} is_a: EFO:0000684 ! respiratory system disease is_a: MONDO:0005271 {source="DOID:0060496", source="MONDO:Redundant"} ! allergic disease property_value: exactMatch DOID:0060496 [Term] id: MONDO:0000812 name: vertebral column disorder def: "A disease involving the vertebral column." [MONDO:patterns/location_top] synonym: "disease of spine" EXACT [] synonym: "disease of vertebral column" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of vertebral column" EXACT [] synonym: "disorder of vertebral column" EXACT [MONDO:patterns/location_top] synonym: "spinal disease" RELATED [DOID:0060564] synonym: "vertebral column disease" EXACT [MONDO:patterns/location] synonym: "vertebral column disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:0060564 {source="MONDO:equivalentTo"} xref: ICD9:724.9 xref: MESH:D013122 {source="MONDO:equivalentTo"} xref: SCTID:699699005 {source="MONDO:equivalentTo"} xref: UMLS:C0037933 {source="MONDO:equivalentTo"} is_a: EFO:0002461 ! skeletal system disease property_value: exactMatch DOID:0060564 property_value: exactMatch http://identifiers.org/mesh/D013122 property_value: exactMatch http://identifiers.org/snomedct/699699005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037933 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0000816 name: abdominal obesity-metabolic syndrome synonym: "metabolic syndrome" EXACT [NCIT:C84442] synonym: "metabolic syndrome X" NARROW [NCIT:C84442] xref: DOID:0060611 {source="MONDO:equivalentTo"} xref: EFO:0000195 {source="MONDO:equivalentTo"} xref: ICD10CM:E88.81 {source="MONDO:equivalentTo"} xref: ICD9:277.7 {source="EFO:0000195"} xref: MESH:C535554 {source="MONDO:equivalentTo"} xref: NCIT:C84442 {source="EFO:0000195", source="MONDO:equivalentTo"} xref: OMIMPS:605552 {source="DOID:0060611", source="MONDO:equivalentTo"} xref: Orphanet:411969 {source="MONDO:equivalentObsolete"} xref: UMLS:C2930930 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="NCIT:C84442"} ! syndromic disease is_a: MONDO:0003916 {source="DOID:0060611"} ! overnutrition is_a: MONDO:0019052 ! inborn errors of metabolism property_value: exactMatch DOID:0060611 property_value: exactMatch http://identifiers.org/mesh/C535554 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930930 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E88.81 property_value: exactMatch https://omim.org/phenotypicSeries/PS605552 property_value: exactMatch NCIT:C84442 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4425 xsd:anyURI [Term] id: MONDO:0000819 name: anencephaly def: "A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus." [NCIT:C84560] synonym: "anencephalus" EXACT [NCIT:C84560] xref: DOID:0060668 {source="MONDO:equivalentTo"} xref: MESH:D000757 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: NCIT:C84560 {source="MONDO:equivalentTo"} xref: OMIMPS:206500 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0002320 {source="DOID:0060668"} ! congenital nervous system disorder property_value: exactMatch DOID:0060668 property_value: exactMatch http://identifiers.org/mesh/D000757 property_value: exactMatch https://omim.org/phenotypicSeries/PS206500 property_value: exactMatch NCIT:C84560 [Term] id: MONDO:0000820 name: cerebral cavernous malformation def: "A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur." [NCIT:C84626] synonym: "brain cavernous hemangioma" EXACT [Orphanet:164] synonym: "cavernous angiomatous malformations" EXACT [DOID:0060669] synonym: "CCM" EXACT ABBREVIATION [DOID:0060669] synonym: "cerebral capillary malformations" EXACT [DOID:0060669] synonym: "cerebral cavernous malformation" EXACT [] synonym: "familial cavernous angioma" RELATED [DOID:0060669] xref: DOID:0060669 {source="MONDO:equivalentTo"} xref: NCIT:C84626 {source="MONDO:equivalentTo"} xref: Orphanet:164 {source="MONDO:equivalentObsolete"} is_a: MONDO:0002320 {source="NCIT:C4976", source="NCIT:C84626/inferred"} ! congenital nervous system disorder property_value: exactMatch DOID:0060669 property_value: exactMatch NCIT:C84626 property_value: excluded_subClassOf MONDO:0003241 {source="DOID:0060669"} [Term] id: MONDO:0000824 name: congenital diarrhea synonym: "diarrhea, congenital" EXACT [MONDO:0000117] xref: DOID:0060774 {source="MONDO:equivalentTo"} xref: OMIMPS:214700 {source="DOID:0060774", source="MONDO:equivalentTo"} xref: UMLS:CN232319 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0001673 {source="DOID:0060774", source="MONDO:Redundant"} ! diarrheal disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch DOID:0060774 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN232319 property_value: exactMatch https://omim.org/phenotypicSeries/PS214700 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0000827 name: salmonellosis def: "Infections with bacteria of the genus salmonella." [MESH:D012480] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:795"} synonym: "infections, Salmonella" RELATED [MONDO:patterns/infectious_disease_by_agent] synonym: "rare form of salmonellosis" EXACT [MONDO:0019331] synonym: "Salmonella infection" EXACT [DOID:0060859, MONDO:patterns/infectious_disease_by_agent] xref: DOID:0060859 {source="MONDO:equivalentTo"} xref: EFO:1001418 {source="MONDO:equivalentTo"} xref: ICD9:003.0 {source="MONDO:relatedTo", source="DOID:0060859"} xref: ICD9:003.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:003.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10039447 {source="Orphanet:795/e", source="Orphanet:795"} xref: MESH:D012480 {source="MONDO:equivalentTo"} xref: NCIT:C157974 {source="MONDO:equivalentTo"} xref: Orphanet:795 {source="MONDO:equivalentTo"} xref: SCTID:302231008 {source="MONDO:equivalentTo"} xref: UMLS:C0036117 {source="Orphanet:795/e", source="MONDO:equivalentTo", source="Orphanet:795"} xref: UMLS:CN205993 {source="MONDO:equivalentTo"} is_a: MONDO:0000314 {source="DOID:0060859"} ! primary bacterial infectious disease relationship: disease_has_feature EFO:1001869 {source="MONDO:Wikidata"} ! dysentery property_value: closeMatch http://identifiers.org/meddra/10039447 property_value: exactMatch DOID:0060859 property_value: exactMatch http://identifiers.org/mesh/D012480 property_value: exactMatch http://identifiers.org/snomedct/302231008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036117 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205993 property_value: exactMatch NCIT:C157974 property_value: exactMatch Orphanet:795 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI [Term] id: MONDO:0000828 name: juvenile-onset Parkinson disease comment: Editor notes: check onset axioms synonym: "juvenile-onset Parkinson's disease" RELATED [DOID:0060893] xref: DOID:0060893 {source="MONDO:equivalentTo"} is_a: MONDO:0017279 {source="DOID:0060893"} ! young-onset Parkinson disease property_value: exactMatch DOID:0060893 [Term] id: MONDO:0000831 name: thrombotic disease def: "The formation of a blood clot in the lumen of a vessel or heart chamber; causes include coagulation disorders and vascular endothelial injury." [NCIT:C26891] synonym: "blood clot" EXACT [MESH:D013927] synonym: "blood Clots" EXACT [MESH:D013927] synonym: "clot, blood" EXACT [MESH:D013927] synonym: "Clots, blood" EXACT [MESH:D013927] synonym: "Thromboses" EXACT [MESH:D013927] synonym: "thrombosis" EXACT [NCIT:C26891] synonym: "thrombotic disorder" EXACT [MONDO:cjm] synonym: "thrombus" EXACT [MESH:D013927] xref: DOID:0060903 {source="MONDO:equivalentTo"} xref: ICD9:453.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D013927 {source="MONDO:equivalentTo"} xref: NCIT:C26891 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:439127006 {source="MONDO:equivalentTo"} is_a: EFO:0004264 {source="DOID:0060903", source="MESH:D013927/inferred", source="NCIT:C26891/inferred"} ! vascular disease property_value: exactMatch DOID:0060903 property_value: exactMatch http://identifiers.org/mesh/D013927 property_value: exactMatch http://identifiers.org/snomedct/439127006 property_value: exactMatch NCIT:C26891 [Term] id: MONDO:0000833 name: bone remodeling disease def: "A bone disease that results in formation or resorption abnormalities located in bone." [DOID:0080005, http://en.wikipedia.org/wiki/Bone_remodeling] xref: DOID:0080005 {source="MONDO:equivalentTo"} is_a: EFO:0004260 ! bone disease property_value: exactMatch DOID:0080005 [Term] id: MONDO:0000836 name: disease of bone structure synonym: "bone structure disease" RELATED [DOID:0080010] xref: DOID:0080010 {source="MONDO:equivalentTo"} is_a: EFO:0004260 {source="DOID:0080010"} ! bone disease property_value: exactMatch DOID:0080010 [Term] id: MONDO:0000837 name: bone resorption disease def: "A disease that has its basis in the disruption of bone resorption. Bone resorption is a process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products." [] xref: DOID:0080011 {source="MONDO:equivalentTo"} xref: MESH:D001862 {source="DOID:0080011", source="MONDO:equivalentTo"} is_a: MONDO:0000833 ! bone remodeling disease property_value: exactMatch DOID:0080011 property_value: exactMatch http://identifiers.org/mesh/D001862 [Term] id: MONDO:0000839 name: obsolete congenital abnormality def: "OBSOLETE. Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period." [NCIT:C2849] comment: This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. synonym: "birth defect" EXACT [NCIT:C2849] synonym: "CM - congenital malformation" RELATED [] synonym: "congenital Abnormality" EXACT [NCIT:C2849] synonym: "congenital abnormality" EXACT [] synonym: "congenital anatomic Abnormality" EXACT [NCIT:C2849] synonym: "congenital anatomical Abnormality" EXACT [NCIT:C2849] synonym: "congenital anomalies of fetus" EXACT [NCIT:C2849] synonym: "congenital anomaly" EXACT [NCIT:C2849] synonym: "congenital anomaly or birth defect" EXACT [NCIT:C2849] synonym: "congenital defect" EXACT [NCIT:C2849] synonym: "congenital defect/deformity" EXACT [NCIT:C2849] synonym: "congenital deformity" EXACT [NCIT:C2849] synonym: "congenital malformation" EXACT [NCIT:C2849] synonym: "defect/deformity, Congenital" EXACT [NCIT:C2849] synonym: "defect/deformity, congenital" EXACT [NCIT:C2849] synonym: "deformity/defect, Congenital" EXACT [NCIT:C2849] synonym: "fetal developmental abnormality" RELATED [] synonym: "fetal malformation" RELATED [] synonym: "physical disorder" EXACT [] synonym: "SCONG" EXACT ABBREVIATION [NCIT:C2849] xref: DOID:0080015 {source="MONDO:obsoleteEquivalent"} xref: EFO:0003915 {source="MONDO:obsoleteEquivalentObsolete"} xref: ICD9:759.89 xref: ICD9:759.9 xref: MESH:D000013 {source="MONDO:obsoleteEquivalent"} xref: NCIT:C2849 {source="MONDO:obsoleteEquivalent"} xref: SCTID:276654001 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN232116 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch DOID:0080015 property_value: exactMatch http://identifiers.org/mesh/D000013 property_value: exactMatch http://identifiers.org/snomedct/276654001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN232116 property_value: exactMatch NCIT:C2849 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3661 xsd:anyURI is_obsolete: true [Term] id: MONDO:0000845 name: fibrous dysplasia def: "A genetic, non-inheritable disorder caused by osteoblastic differentiation defects that result in the replacement of bone marrow and trabecular bone by fibrous stroma and immature bone. It usually affects a single bone and less frequently multiple bones. Skull, femur, tibia, and humerus are the most frequently affected bones. It manifests with pain, deformities, and fractures." [NCIT:C34609] subset: ordo_malformation_syndrome {source="Orphanet:249"} synonym: "fibrous dysplasia of bone" EXACT [NCIT:C34609] xref: DOID:0080031 {source="MONDO:equivalentTo"} xref: ICD9:733.29 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10016664 {source="Orphanet:249", source="Orphanet:249/e"} xref: MESH:D005357 {source="Orphanet:249", source="MONDO:equivalentTo", source="Orphanet:249/e"} xref: NCIT:C34609 {source="MONDO:equivalentTo"} xref: Orphanet:249 {source="MONDO:equivalentTo"} xref: SCTID:10623005 {source="MONDO:equivalentTo"} xref: SCTID:254145001 {source="MONDO:equivalentTo"} is_a: MONDO:0000833 {source="DOID:0080031"} ! bone remodeling disease is_a: MONDO:0035682 {source="Orphanet:249", source="https://orcid.org/0000-0001-5493-2602"} ! fibrous dysplasia/McCune-Albright syndrome relationship: has_characteristic MONDO:0021141 ! acquired property_value: closeMatch http://identifiers.org/meddra/10016664 property_value: exactMatch DOID:0080031 property_value: exactMatch http://identifiers.org/mesh/D005357 property_value: exactMatch http://identifiers.org/snomedct/10623005 property_value: exactMatch http://identifiers.org/snomedct/254145001 property_value: exactMatch NCIT:C34609 property_value: exactMatch Orphanet:249 property_value: excluded_subClassOf MONDO:0019708 {source="Orphanet:249"} [Term] id: MONDO:0000863 name: myopathy, lactic acidosis, and sideroblastic anemia def: "Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anemia around adolescence, lactic acidaemia, and mitochondrial myopathy." [Orphanet:2598] subset: ordo_disease {source="Orphanet:2598"} synonym: "mitochondrial myopathy and sideroblastic anaemia" EXACT OMO:0003005 [] synonym: "mitochondrial myopathy and sideroblastic anemia" EXACT [MONDO:0010892] synonym: "MLASA" EXACT ABBREVIATION [Orphanet:2598] synonym: "MSA" EXACT ABBREVIATION [Orphanet:2598] synonym: "myopathy with lactic acidosis and sideroblastic anaemia" RELATED OMO:0003005 [] synonym: "myopathy with lactic acidosis and sideroblastic anemia" RELATED [GARD:0003885] synonym: "myopathy, lactic acidosis and sideroblastic anaemia" EXACT OMO:0003005 [] synonym: "myopathy, lactic acidosis and sideroblastic anemia" EXACT [Orphanet:2598] synonym: "myopathy, lactic acidosis, and siderblastic anaemia" EXACT OMO:0003005 [] synonym: "myopathy, lactic acidosis, and siderblastic anemia" EXACT [OMIMPS:600462] synonym: "sideroblastic anaemia and mitochondrial myopathy" RELATED OMO:0003005 [] synonym: "sideroblastic anemia and mitochondrial myopathy" RELATED [GARD:0003885] xref: DOID:0080099 {source="MONDO:equivalentTo"} xref: MESH:C536101 {source="Orphanet:2598", source="MONDO:equivalentTo", source="Orphanet:2598/e"} xref: OMIMPS:600462 {source="MONDO:equivalentTo"} xref: Orphanet:2598 {source="OMIM:600462", source="MONDO:equivalentTo"} xref: SCTID:724138007 {source="MONDO:equivalentTo"} xref: UMLS:CN220387 {source="MONDO:equivalentTo"} is_a: MONDO:0000577 ! congenital anemia is_a: MONDO:0009637 {source="MESH:C536101/inferred", source="Orphanet:2598"} ! inborn mitochondrial myopathy is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0020099 {source="Orphanet:2598"} ! inherited sideroblastic anemia property_value: exactMatch DOID:0080099 property_value: exactMatch http://identifiers.org/mesh/C536101 property_value: exactMatch http://identifiers.org/snomedct/724138007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN220387 property_value: exactMatch https://omim.org/phenotypicSeries/PS600462 property_value: exactMatch Orphanet:2598 [Term] id: MONDO:0000866 name: hereditary myoglobinuria comment: TODO: cede to HPO synonym: "myoglobinurias" RELATED [MESH:D009212] xref: DOID:0080108 {source="MONDO:equivalentTo"} xref: HP:0002913 {source="MONDO:otherHierarchy"} xref: ICD10CM:R82.1 {source="MONDO:equivalentTo"} xref: MESH:D009212 {source="MONDO:equivalentTo"} xref: NCIT:C114705 {source="MONDO:equivalentTo"} is_a: EFO:0004145 {source="DOID:0080108"} ! myopathy property_value: exactMatch DOID:0080108 property_value: exactMatch http://identifiers.org/mesh/D009212 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/R82.1 property_value: exactMatch NCIT:C114705 [Term] id: MONDO:0000870 name: childhood acute lymphoblastic leukemia def: "An acute lymphoblastic leukemia occurring during childhood. The majority of cases are B-acute lymphoblastic leukemias. Approximately 15% of the cases are T-acute lymphoblastic leukemias." [NCIT:C3168] subset: gard_rare {source="GARD:0009240"} synonym: "acute lymphoblastic leukaemia (ALL)" BROAD OMO:0003005 [] synonym: "acute lymphoblastic leukemia (ALL)" BROAD [NCIT:C3168] synonym: "childhood acute lymphoblastic leukemia" EXACT [NCIT:C3168] synonym: "childhood acute lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "childhood acute lymphocytic leukemia" EXACT [DOID:0080144, NCIT:C3168] synonym: "childhood acute lymphogenous leukaemia" EXACT OMO:0003005 [] synonym: "childhood acute lymphogenous leukemia" EXACT [NCIT:C3168] synonym: "childhood acute lymphoid leukaemia" EXACT OMO:0003005 [] synonym: "childhood acute lymphoid leukemia" EXACT [NCIT:C3168] synonym: "childhood ALL" EXACT [NCIT:C3168] synonym: "childhood precursor lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "childhood precursor lymphoblastic leukemia" EXACT [NCIT:C3168] synonym: "paediatric acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "paediatric acute lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "paediatric acute lymphocytic leukaemia (ALL)" EXACT OMO:0003005 [] synonym: "paediatric acute lymphogenous leukaemia" EXACT OMO:0003005 [] synonym: "paediatric acute lymphoid leukaemia" EXACT OMO:0003005 [] synonym: "paediatric ALL" EXACT OMO:0003005 [] synonym: "pediatric acute lymphoblastic leukemia" EXACT [NCIT:C3168] synonym: "pediatric acute lymphocytic leukemia" EXACT [NCIT:C3168] synonym: "pediatric acute lymphocytic leukemia (ALL)" EXACT [NCIT:C3168] synonym: "pediatric acute lymphogenous leukemia" EXACT [NCIT:C3168] synonym: "pediatric acute lymphoid leukemia" EXACT [NCIT:C3168] synonym: "pediatric ALL" EXACT [NCIT:C3168] xref: DOID:0080144 {source="MONDO:equivalentTo"} xref: NCIT:C3168 {source="DOID:0080144", source="MONDO:equivalentTo"} is_a: EFO:0000220 {source="DOID:0080144", source="MONDO:Redundant", source="NCIT:C3168"} ! acute lymphoblastic leukemia is_a: MONDO:0003659 ! pediatric lymphoma is_a: MONDO:0004355 {source="MONDO:Redundant", source="NCIT:C3168"} ! childhood leukemia property_value: exactMatch DOID:0080144 property_value: exactMatch NCIT:C3168 property_value: gwas:trait "true" xsd:boolean property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9240/childhood-acute-lymphoblastic-leukemia xsd:anyURI {source="GARD:0009240"} [Term] id: MONDO:0000873 name: lymphoblastic lymphoma def: "A lymphoma composed of immature small to medium-sized precursor lymphoid cells (lymphoblasts). It includes the B- and T-cell lymphoblastic lymphoma." [NCIT:C9360] subset: gard_rare {source="GARD:0003329"} synonym: "lymphoblastic lymphoma" EXACT [NCIT:C9360] synonym: "lymphoma, lymphoblastic" RELATED [GARD:0003329] synonym: "lymphoma, lymphoblastic, malignant" EXACT [NCIT:C9360] synonym: "precursor cell lymphoblastic lymphoma" EXACT [NCIT:C9360] synonym: "precursor lymphoblastic lymphoma" EXACT [NCIT:C9360] xref: DOID:0080147 {source="MONDO:equivalentTo"} xref: ICD9:202.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9727/3 {source="NCIT:C9360"} xref: NCIT:C9360 {source="MONDO:equivalentTo"} xref: SCTID:109965004 {source="MONDO:equivalentTo"} xref: UMLS:C0079748 {source="MONDO:equivalentTo", source="NCIT:C9360"} is_a: EFO:0005952 {source="NCIT:C9360"} ! non-Hodgkins lymphoma is_a: EFO:0009119 {source="NCIT:C9360"} ! precursor lymphoblastic lymphoma/leukemia property_value: exactMatch DOID:0080147 property_value: exactMatch http://identifiers.org/snomedct/109965004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0079748 property_value: exactMatch NCIT:C9360 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3329/lymphoblastic-lymphoma xsd:anyURI {source="GARD:0003329"} [Term] id: MONDO:0000879 name: cutaneous candidiasis def: "Candidiasis of the skin manifested as eczema-like lesions of the interdigital spaces, perleche, or chronic paronychia. (Dorland, 27th ed)" [MESH:D002179] synonym: "zone of skin candidiasis" EXACT [MONDO:patterns/location] xref: DOID:0080161 {source="MONDO:equivalentTo"} xref: MESH:D002179 {source="MONDO:equivalentTo", source="DOID:0080161"} xref: UMLS:C0006846 {source="MONDO:equivalentTo"} is_a: EFO:0007510 ! tinea is_a: MONDO:0002026 {source="DOID:0080161", source="MESH:D002179", source="MONDO:Redundant"} ! candidiasis property_value: exactMatch DOID:0080161 property_value: exactMatch http://identifiers.org/mesh/D002179 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006846 [Term] id: MONDO:0000883 name: obsolete myeloid neoplasms associated with PDGFRB rearrangement property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3845 xsd:anyURI is_obsolete: true replaced_by: MONDO:0015690 [Term] id: MONDO:0000890 name: Zika virus congenital syndrome def: "A congenital birth syndrome that arises from materal Zika infection." [https://www.cdc.gov/pregnancy/zika/testing-follow-up/zika-syndrome-birth-defects.html] synonym: "congenital Zika syndrome" EXACT [MESH:1622152] synonym: "congenital Zika virus infection" EXACT [MESH:1622152] synonym: "ZIKV congenital infection" EXACT [DOID:0080180] xref: DOID:0080180 {source="MONDO:equivalentTo"} xref: MESH:1622152 {source="MONDO:equivalentObsolete"} xref: MESH:D000071243 {source="MONDO:relatedTo"} is_a: EFO:0000763 {source="https://github.com/monarch-initiative/mondo/issues/1937"} ! viral disease is_a: MONDO:0021670 ! post-infectious syndrome is_a: MONDO:0021674 ! post-viral disorder is_a: MONDO:0100120 {source="https://github.com/monarch-initiative/mondo/issues/1937"} ! vector-borne disease relationship: disease_arises_from_feature MONDO:0018661 {source="https://orcid.org/0000-0001-5208-3432"} ! Zika virus infectious disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital property_value: exactMatch DOID:0080180 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0000892 name: colon medullary carcinoma def: "A rare, invasive colon adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis." [NCIT:C60641] synonym: "colon medullary carcinoma" EXACT [NCIT:C60641] synonym: "medullary carcinoma of the colon" RELATED [ONCOTREE:CMC] synonym: "medullary colon carcinoma" RELATED [DOID:0080183] xref: DOID:0080183 {source="MONDO:equivalentTo"} xref: NCIT:C60641 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:CMC {source="MONDO:equivalentTo"} xref: UMLS:C1880119 {source="MONDO:equivalentTo", source="NCIT:C60641"} is_a: EFO:1001949 {source="NCIT:C60641"} ! colon adenocarcinoma is_a: MONDO:0020794 {source="NCIT:C60641"} ! colorectal medullary carcinoma property_value: exactMatch DOID:0080183 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1880119 property_value: exactMatch NCIT:C60641 [Term] id: MONDO:0000894 name: mucinous bronchioloalveolar adenocarcinoma def: "A bronchiolo-alveolar adenocarcinoma that is characterized by a tumor cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion." [DOID:0080185, PMID:16463270] xref: DOID:0080185 {source="MONDO:equivalentTo"} is_a: EFO:0000308 {source="DOID:0080185", source="MONDO:Entailed", source="MONDO:Redundant"} ! bronchoalveolar adenocarcinoma is_a: MONDO:0027772 ! lung colloid adenocarcinoma intersection_of: EFO:0000308 ! bronchoalveolar adenocarcinoma intersection_of: MONDO:0024338 ! mucinous neoplasm property_value: exactMatch DOID:0080185 [Term] id: MONDO:0000902 name: agenesis of the corpus callosum with peripheral neuropathy def: "Corpus callosum agenesis-neuropathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and \"autistic-like\" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait." [Orphanet:1496] subset: ordo_disease {source="Orphanet:1496"} synonym: "ACCPN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:218000] synonym: "agenesis of corpus callosum with neuronopathy" RELATED [GARD:0001537] synonym: "agenesis of corpus callosum with peripheral neuropathy" RELATED [GARD:0001537] synonym: "agenesis of corpus callosum with polyneuropathy" RELATED [GARD:0001537] synonym: "agenesis of the corpus callosum with peripheral neuropathy" EXACT [DOID:0060600, MONDO:Lexical, OMIM:218000] synonym: "Andermann syndrome" EXACT [DOID:0060600, DOID:0090003, OMIM:218000, Orphanet:1496] synonym: "Charlevoix disease" EXACT [DOID:0060600, DOID:0090003, OMIM:218000, Orphanet:1496] synonym: "corpus callosum agenesis neuronopathy" RELATED [GARD:0001537] synonym: "corpus callosum agenesis-neuronopathy syndrome" EXACT [DOID:0060600, DOID:0090003] synonym: "corpus callosum, agenesis of, with neuronopathy" RELATED [OMIM:218000] synonym: "hereditary motor and sensory neuropathy with agenesis of the corpus callosum" EXACT [MONDO:0009023] synonym: "HMSN/ACC" RELATED [GARD:0001537] synonym: "peripheral neuropathy associated with agenesis of the corpus callosum" EXACT [DOID:0060600] synonym: "polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum" RELATED [OMIM:218000] xref: DOID:0060600 {source="MONDO:equivalentObsolete"} xref: DOID:0090003 {source="MONDO:equivalentTo"} xref: MESH:C536446 {source="Orphanet:1496", source="DOID:0060600", source="MONDO:equivalentTo", source="Orphanet:1496/e"} xref: OMIM:218000 {source="Orphanet:1496", source="DOID:0060600", source="DOID:0090003", source="MONDO:equivalentTo", source="Orphanet:1496/e"} xref: Orphanet:1496 {source="DOID:0060600", source="DOID:0090003", source="MONDO:equivalentTo", source="OMIM:218000"} xref: SCTID:702439002 {source="MONDO:equivalentTo"} xref: UMLS:C0795950 {source="Orphanet:1496", source="DOID:0060600", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1496/e", source="OMIM:218000"} is_a: EFO:0005772 {source="https://orcid.org/0000-0001-5208-3432"} ! neurodegenerative disease property_value: exactMatch DOID:0090003 property_value: exactMatch http://identifiers.org/mesh/C536446 property_value: exactMatch http://identifiers.org/snomedct/702439002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795950 property_value: exactMatch https://omim.org/entry/218000 property_value: exactMatch Orphanet:1496 [Term] id: MONDO:0000903 name: myoclonus-dystonia syndrome def: "Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks." [Orphanet:36899] synonym: "alcohol-responsive dystonia" RELATED [MESH:C536096] synonym: "dystonia 11" RELATED [GARD:0007139, MESH:C536096] synonym: "dystonia 11, myoclonic" RELATED [MESH:C536096] synonym: "dystonia with myoclonus" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/] synonym: "dystonia, alcohol responsive" RELATED [GARD:0007139] synonym: "dystonia, alcohol-responsive" RELATED [MESH:C536096] synonym: "dystonia-11, myoclonic" RELATED [GARD:0007139] synonym: "DYT-SGCE" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/] synonym: "DYT11" RELATED ABBREVIATION [MESH:C536096] synonym: "Hereditary essential myoclonus" RELATED [MESH:C536096] synonym: "hereditary essential myoclonus" EXACT [Orphanet:36899] synonym: "myoclonic dystonia" EXACT [DOID:0090033, MESH:C536096] synonym: "myoclonus, hereditary essential" RELATED [MESH:C536096] synonym: "myoclonus-Dystonia" RELATED [MESH:C536096] synonym: "myoclonus-dystonia" RELATED [GARD:0007139] synonym: "myoclonus-dystonia syndrome" EXACT [MESH:C536096] xref: DOID:0090033 {source="MONDO:equivalentTo"} xref: ICD9:333.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536096 {source="MONDO:equivalentTo", source="Orphanet:36899/e"} xref: Orphanet:36899 {source="DOID:0090034", source="MONDO:equivalentTo", source="OMIM:159900"} xref: SCTID:439732004 {source="MONDO:equivalentTo"} xref: UMLS:C1834570 {source="MONDO:equivalentTo", source="Orphanet:36899/e"} is_a: MONDO:0017651 {source="Orphanet:36899"} ! primary myoclonus is_a: MONDO:0018329 {source="Orphanet:36899"} ! persistent combined dystonia property_value: exactMatch DOID:0090033 property_value: exactMatch http://identifiers.org/mesh/C536096 property_value: exactMatch http://identifiers.org/snomedct/439732004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834570 property_value: exactMatch Orphanet:36899 [Term] id: MONDO:0000904 name: complex cortical dysplasia with other brain malformations synonym: "CDCBM" EXACT ABBREVIATION [DOID:0090131] synonym: "complex cortical dysplasia with other brain malformations" EXACT [] synonym: "cortical dysplasia, complex, with other brain malformations" EXACT [OMIMPS:614039] xref: DOID:0090131 {source="MONDO:equivalentTo"} xref: OMIMPS:614039 {source="DOID:0090131", source="MONDO:equivalentTo"} xref: UMLS:CN228165 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0005774 {source="DOID:0090131"} ! brain disease is_a: MONDO:0021147 ! disorder of development or morphogenesis is_a: MONDO:0045024 ! cancer or benign tumor property_value: exactMatch DOID:0090131 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN228165 property_value: exactMatch https://omim.org/phenotypicSeries/PS614039 [Term] id: MONDO:0000916 name: intestinal infectious disease def: "An infectious disease involving a pathogenic inflammatory response in the intestinal mucosa." [MONDO:patterns/specific_inflammatory_disease_by_site] synonym: "bacterial enteritis" EXACT [DOID:100] xref: DOID:100 {source="MONDO:equivalentTo"} xref: ICD10CM:A00-A09 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="DOID:100", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:001-009.99 {source="DOID:100"} xref: ICD9:008.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:266071000 {source="MONDO:equivalentTo", source="DOID:100"} xref: UMLS:C0152516 {source="MONDO:equivalentTo"} xref: UMLS:C0178238 {source="MONDO:equivalentTo", source="DOID:100"} is_a: EFO:1001463 ! gastroenteritis is_a: MONDO:0043424 ! digestive system infectious disorder property_value: exactMatch DOID:100 property_value: exactMatch http://identifiers.org/snomedct/266071000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152516 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0178238 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A00-A09 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0000919 name: ampulla of vater cancer def: "A primary or metastatic malignant neoplasm involving the ampulla of Vater." [NCIT:C3536] synonym: "cancer of hepatopancreatic ampulla" EXACT [MONDO:patterns/cancer] synonym: "hepatopancreatic ampulla cancer" EXACT [MONDO:patterns/location] synonym: "malignant ampulla of Vater neoplasm" EXACT [NCIT:C3536] synonym: "malignant ampulla of Vater tumor" EXACT [NCIT:C3536] synonym: "malignant ampulla of Vater tumour" EXACT OMO:0003005 [] synonym: "malignant hepatopancreatic ampulla neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of ampulla of Vater" EXACT [NCIT:C3536] synonym: "malignant neoplasm of hepatopancreatic ampulla" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the ampulla of Vater" EXACT [NCIT:C3536] synonym: "malignant tumor of ampulla of Vater" EXACT [NCIT:C3536] synonym: "malignant tumor of ampulla of vater" EXACT [DOID:10020] synonym: "malignant tumor of the ampulla of Vater" EXACT [NCIT:C3536] synonym: "malignant tumour of ampulla of Vater" EXACT OMO:0003005 [] synonym: "malignant tumour of ampulla of vater" EXACT OMO:0003005 [] synonym: "malignant tumour of the ampulla of Vater" EXACT OMO:0003005 [] xref: DOID:10020 {source="MONDO:equivalentTo"} xref: ICD9:156.2 {source="DOID:10020"} xref: NCIT:C3536 {source="MONDO:equivalentTo", source="DOID:10020"} xref: SCTID:363417006 {source="MONDO:equivalentTo", source="DOID:10020"} xref: UMLS:C0153454 {source="MONDO:equivalentTo", source="DOID:10020", source="NCIT:C3536"} is_a: MONDO:0000920 {source="DOID:10020", source="MONDO:Redundant"} ! duodenum cancer is_a: MONDO:0000921 {source="MONDO:Redundant", source="NCIT:C3536"} ! ampulla of vater neoplasm is_a: MONDO:0021321 ! malignant tumor of extrahepatic bile duct property_value: exactMatch DOID:10020 property_value: exactMatch http://identifiers.org/snomedct/363417006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153454 property_value: exactMatch NCIT:C3536 [Term] id: MONDO:0000920 name: duodenum cancer def: "A primary or metastatic malignant neoplasm that affects the duodenum. Representative examples include carcinoma, lymphoma, and sarcoma." [NCIT:C9328] synonym: "cancer of duodenum" EXACT [DOID:10021, MONDO:patterns/cancer, NCIT:C4803] synonym: "duodenal cancer" EXACT [DOID:10021] synonym: "duodenum cancer" EXACT [MONDO:patterns/location] synonym: "malignant duodenal neoplasm" EXACT [NCIT:C9328] synonym: "malignant duodenal tumor" EXACT [NCIT:C9328] synonym: "malignant duodenal tumour" EXACT OMO:0003005 [] synonym: "malignant duodenum neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of duodenum" EXACT [MONDO:patterns/cancer, NCIT:C9328] synonym: "malignant neoplasm of the duodenum" EXACT [NCIT:C9328] synonym: "malignant tumor of duodenum" EXACT [NCIT:C9328] synonym: "malignant tumor of the duodenum" EXACT [NCIT:C9328] synonym: "malignant tumour of duodenum" EXACT OMO:0003005 [] synonym: "malignant tumour of the duodenum" EXACT OMO:0003005 [] xref: DOID:10021 {source="MONDO:equivalentTo"} xref: ICD9:152.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10021"} xref: MESH:D004379 {source="MONDO:equivalentTo", source="DOID:10021"} xref: NCIT:C9328 {source="MONDO:equivalentTo", source="DOID:10021"} xref: SCTID:363403002 {source="MONDO:equivalentTo", source="DOID:10021"} is_a: MONDO:0000956 {source="DOID:10021", source="MONDO:Redundant", source="NCIT:C9328"} ! small intestine cancer is_a: MONDO:0021375 {source="MONDO:Redundant", source="NCIT:C9328"} ! tumor of duodenum property_value: exactMatch DOID:10021 property_value: exactMatch http://identifiers.org/mesh/D004379 property_value: exactMatch http://identifiers.org/snomedct/363403002 property_value: exactMatch NCIT:C9328 [Term] id: MONDO:0000921 name: ampulla of vater neoplasm def: "A benign or malignant neoplasm involving the ampulla of Vater." [NCIT:C4443] synonym: "ampulla of Vater tumor" EXACT [NCIT:C4443] synonym: "ampulla of Vater tumour" EXACT OMO:0003005 [] synonym: "AMPULLAOFVATER" RELATED ABBREVIATION [ONCOTREE:AMPULLAOFVATER] synonym: "hepatopancreatic ampulla neoplasm" EXACT [] synonym: "hepatopancreatic ampulla neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "hepatopancreatic ampulla tumor" EXACT [MONDO:patterns/neoplasm] synonym: "hepatopancreatic ampulla tumour" EXACT OMO:0003005 [] synonym: "neoplasm of ampulla of Vater" EXACT [NCIT:C4443] synonym: "neoplasm of hepatopancreatic ampulla" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the ampulla of Vater" EXACT [NCIT:C4443] synonym: "tumor of ampulla of Vater" EXACT [NCIT:C4443] synonym: "tumor of hepatopancreatic ampulla" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the ampulla of Vater" EXACT [DOID:10022, NCIT:C4443] synonym: "tumour of ampulla of Vater" EXACT OMO:0003005 [] synonym: "tumour of hepatopancreatic ampulla" EXACT OMO:0003005 [] synonym: "tumour of the ampulla of Vater" EXACT OMO:0003005 [] xref: DOID:10022 {source="MONDO:equivalentTo"} xref: NCIT:C4443 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:10022"} xref: ONCOTREE:AMPULLAOFVATER {source="MONDO:equivalentTo"} xref: SCTID:126858004 {source="MONDO:equivalentTo", source="DOID:10022"} xref: UMLS:C0345916 {source="MONDO:equivalentTo", source="NCIT:C4443", source="DOID:10022"} is_a: EFO:1000876 ! common bile duct neoplasm is_a: MONDO:0021375 {source="MONDO:Redundant"} ! tumor of duodenum property_value: exactMatch DOID:10022 property_value: exactMatch http://identifiers.org/snomedct/126858004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345916 property_value: exactMatch NCIT:C4443 [Term] id: MONDO:0000923 name: interstitial emphysema def: "Pathologic accumulation of air in the interstitium of the lungs, which is caused by the rupture of alveoli and terminal bronchioles, and is most often seen in premature infants that need mechanical ventilation for respiratory distress syndrome." [NCIT:P378] synonym: "interstitial emphysema of lung" EXACT [NCIT:C34571] synonym: "pie" EXACT [NCIT:C34571] synonym: "pulmonary interstitial emphysema" EXACT [NCIT:C34571] xref: DOID:10030 {source="MONDO:equivalentTo"} xref: ICD10CM:J98.2 {source="MONDO:equivalentTo", source="DOID:10030"} xref: ICD9:518.1 {source="DOID:10030"} xref: NCIT:C34571 {source="MONDO:equivalentTo", source="DOID:10030"} xref: SCTID:77690003 {source="MONDO:equivalentTo", source="DOID:10030"} xref: UMLS:C1370824 {source="MONDO:equivalentTo", source="DOID:10030"} is_a: EFO:0000464 {source="DOID:10030", source="NCIT:C34571"} ! emphysema property_value: exactMatch DOID:10030 property_value: exactMatch http://identifiers.org/snomedct/77690003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1370824 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/J98.2 property_value: exactMatch NCIT:C34571 [Term] id: MONDO:0000924 name: compensatory emphysema xref: DOID:10031 {source="MONDO:equivalentTo"} xref: ICD10CM:J98.3 {source="MONDO:equivalentTo", source="DOID:10031"} xref: ICD9:518.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10031"} xref: SCTID:33325001 {source="MONDO:equivalentTo", source="DOID:10031"} xref: UMLS:C0155918 {source="MONDO:equivalentTo", source="DOID:10031"} is_a: EFO:0000464 {source="DOID:10031"} ! emphysema property_value: exactMatch DOID:10031 property_value: exactMatch http://identifiers.org/snomedct/33325001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155918 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/J98.3 [Term] id: MONDO:0000926 name: eye accommodation disease def: "Disease that disrupts the process by which the vertebrate eye changes optical power to maintain a clear image or focus on an object as its distance varies." [MONDO:cjm, Wikipedia:Accommodation_(eye)] synonym: "disorder of accommodation" EXACT [] xref: DOID:10034 {source="MONDO:equivalentTo"} xref: ICD9:367.5 {source="DOID:10034"} xref: SCTID:54552008 {source="MONDO:equivalentTo", source="DOID:10034"} xref: UMLS:C0152198 {source="MONDO:equivalentTo", source="DOID:10034"} is_a: EFO:0003966 {source="DOID:10034"} ! eye disease property_value: exactMatch DOID:10034 property_value: exactMatch http://identifiers.org/snomedct/54552008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152198 [Term] id: MONDO:0000931 name: endometrial disorder def: "A non-neoplastic or neoplastic disorder that affects the endometrium. Representative examples include endometritis, endometrial hyperplasia, and endometrial carcinoma." [NCIT:P378] synonym: "disease of endometrium" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of endometrium" EXACT [] synonym: "disorder of endometrium" EXACT [MONDO:patterns/location_top] synonym: "endometrial disorder" EXACT [] synonym: "endometrium disease" EXACT [MONDO:patterns/location] synonym: "endometrium disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:1005 {source="MONDO:equivalentTo"} xref: NCIT:C3504 {source="DOID:1005", source="MONDO:equivalentTo"} xref: SCTID:418632009 {source="DOID:1005", source="MONDO:equivalentTo"} is_a: MONDO:0002654 {source="DOID:1005", source="MONDO:Redundant", source="NCIT:C3504"} ! uterine disorder property_value: exactMatch DOID:1005 property_value: exactMatch http://identifiers.org/snomedct/418632009 property_value: exactMatch NCIT:C3504 [Term] id: MONDO:0000944 name: cerebral artery occlusion xref: DOID:10127 {source="MONDO:equivalentTo"} xref: ICD9:434 {source="DOID:10127"} xref: ICD9:434.9 {source="DOID:10127"} xref: ICD9:434.90 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:434.91 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:20059004 {source="DOID:10127", source="MONDO:equivalentTo"} is_a: EFO:0003763 {source="DOID:10127"} ! cerebrovascular disorder is_a: MONDO:0020673 ! arterial occlusion property_value: exactMatch DOID:10127 property_value: exactMatch http://identifiers.org/snomedct/20059004 [Term] id: MONDO:0000945 name: venous insufficiency def: "Impaired venous blood flow or venous return (venous stasis), usually caused by inadequate venous valves. Venous insufficiency often occurs in the legs, and is associated with edema and sometimes with venous stasis ulcers at the ankle." [MESH:D014689] synonym: "peripheral venous insufficiency" NARROW [DOID:10128] synonym: "venous insufficiency" EXACT [MONDO:ambiguous] synonym: "venous insufficiency (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:10128 {source="MONDO:equivalentTo"} xref: HP:0005293 {source="MONDO:otherHierarchy"} xref: ICD9:459.81 {source="DOID:10128", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D014689 {source="DOID:10128", source="MONDO:equivalentTo"} xref: SCTID:20696009 {source="DOID:10128", source="MONDO:equivalentTo"} xref: UMLS:C0042485 {source="DOID:10128", source="MONDO:equivalentTo"} is_a: MONDO:0004634 {source="DOID:10128"} ! vein disorder is_a: MONDO:0020674 ! vascular insufficiency disorder property_value: exactMatch DOID:10128 property_value: exactMatch http://identifiers.org/mesh/D014689 property_value: exactMatch http://identifiers.org/snomedct/20696009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042485 property_value: IAO:0000589 "venous insufficiency (disease)" xsd:string [Term] id: MONDO:0000949 name: conjunctival degeneration xref: DOID:10139 {source="MONDO:equivalentTo"} xref: ICD9:372.50 {source="DOID:10139", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:40787005 {source="DOID:10139", source="MONDO:equivalentTo"} xref: UMLS:C0155160 {source="DOID:10139", source="MONDO:equivalentTo"} is_a: EFO:1000203 {source="DOID:10139"} ! Conjunctival Disorder property_value: exactMatch DOID:10139 property_value: exactMatch http://identifiers.org/snomedct/40787005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155160 [Term] id: MONDO:0000952 name: cancer of long bone of lower limb def: "A cancer that involves the hindlimb long bone." [MONDO:patterns/location] synonym: "cancer of hindlimb long bone" EXACT [MONDO:patterns/cancer] synonym: "hindlimb long bone cancer" EXACT [MONDO:patterns/location] synonym: "long bones of lower limb cancer" RELATED [DOID:10149] synonym: "malignant hindlimb long bone neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of hindlimb long bone" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of long bones of leg" EXACT [DOID:10149] xref: DOID:10149 {source="MONDO:equivalentTo"} xref: ICD10CM:C40.2 {source="DOID:10149", source="MONDO:equivalentTo"} xref: ICD9:170.7 {source="DOID:10149", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:449627008 {source="MONDO:equivalentTo"} xref: UMLS:C3265932 {source="MONDO:equivalentTo"} is_a: MONDO:0024311 ! cancer affecting bone of limb skeleton property_value: exactMatch DOID:10149 property_value: exactMatch http://identifiers.org/snomedct/449627008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3265932 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/C40.2 [Term] id: MONDO:0000956 name: small intestine cancer def: "A primary or metastatic malignant neoplasm involving the small intestine." [NCIT:C7523] subset: gard_rare {source="GARD:0009385"} synonym: "cancer of small intestine" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of small bowel" EXACT [NCIT:C7523] synonym: "malignant neoplasm of small intestine" EXACT [MONDO:patterns/cancer, NCIT:C7523] synonym: "malignant neoplasm of the small bowel" EXACT [NCIT:C7523] synonym: "malignant neoplasm of the small intestine" EXACT [NCIT:C7523] synonym: "malignant neoplasms of the small intestine" RELATED [GARD:0009385] synonym: "malignant small bowel neoplasm" EXACT [NCIT:C7523] synonym: "malignant small bowel tumor" EXACT [NCIT:C7523] synonym: "malignant small bowel tumour" EXACT OMO:0003005 [] synonym: "malignant small intestinal neoplasm" EXACT [NCIT:C7523] synonym: "malignant small intestine neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7523] synonym: "malignant small intestine tumor" EXACT [NCIT:C7523] synonym: "malignant small intestine tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of small bowel" EXACT [NCIT:C7523] synonym: "malignant tumor of small intestine" EXACT [NCIT:C7523] synonym: "malignant tumor of the small bowel" EXACT [NCIT:C7523] synonym: "malignant tumor of the small intestine" EXACT [NCIT:C7523] synonym: "malignant tumour of small bowel" EXACT OMO:0003005 [] synonym: "malignant tumour of small intestine" EXACT OMO:0003005 [] synonym: "malignant tumour of the small bowel" EXACT OMO:0003005 [] synonym: "malignant tumour of the small intestine" EXACT OMO:0003005 [] synonym: "small bowel tumors" RELATED [GARD:0009385] synonym: "small bowel tumours" RELATED OMO:0003005 [] synonym: "small intestine cancer" EXACT [MONDO:patterns/location] xref: DOID:10154 {source="MONDO:equivalentTo"} xref: ICD9:152.9 {source="DOID:10154"} xref: NCIT:C7523 {source="MONDO:equivalentTo", source="DOID:10154"} xref: UMLS:C0153425 {source="MONDO:equivalentTo", source="NCIT:C7523", source="DOID:10154"} is_a: EFO:0007330 {source="DOID:10154", source="MONDO:Redundant", source="NCIT:C7523"} ! intestinal cancer is_a: MONDO:0004251 {source="MONDO:Redundant", source="NCIT:C7523"} ! small intestine neoplasm property_value: exactMatch DOID:10154 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153425 property_value: exactMatch NCIT:C7523 property_value: gwas:trait "true" xsd:boolean property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9385/small-intestine-cancer xsd:anyURI {source="GARD:0009385"} [Term] id: MONDO:0000959 name: malignant hypertensive renal disease xref: DOID:10177 {source="MONDO:equivalentTo"} xref: ICD9:403.00 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:65443008 {source="MONDO:equivalentTo", source="DOID:10177"} xref: UMLS:C0155593 {source="MONDO:equivalentTo", source="DOID:10177"} is_a: EFO:1001031 {source="DOID:10177", source="MONDO:Redundant"} ! malignant hypertension is_a: MONDO:0024633 {source="MONDO:Redundant", source="MONDO:cjm"} ! hypertensive nephropathy intersection_of: EFO:1001031 ! malignant hypertension intersection_of: MONDO:0024633 ! hypertensive nephropathy property_value: exactMatch DOID:10177 property_value: exactMatch http://identifiers.org/snomedct/65443008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155593 property_value: excluded_subClassOf MONDO:0001105 {source="DOID:10177"} [Term] id: MONDO:0000962 name: spindle cell lipoma def: "A benign circumscribed tumor composed of spindled cells, adipocytes, and collagen bundles. There is no evidence of nuclear hyperchromasia or mitotic activity." [NCIT:C4254] synonym: "spindle cell lipoma" EXACT [DOID:10184, NCIT:C4254] synonym: "spindle cell lipoma (morphologic abnormality)" EXACT [DOID:10184] xref: DOID:10184 {source="MONDO:equivalentTo"} xref: ICDO:8857/0 {source="NCIT:C4254"} xref: NCIT:C4254 {source="MONDO:equivalentTo", source="DOID:10184"} xref: SCTID:404058008 {source="MONDO:equivalentTo", source="DOID:10184"} xref: UMLS:C0334474 {source="NCIT:C4254", source="MONDO:equivalentTo", source="DOID:10184"} is_a: EFO:0000705 ! spindle cell tumor is_a: EFO:0000759 {source="DOID:10184", source="NCIT:C4254/inferred"} ! lipoma property_value: exactMatch DOID:10184 property_value: exactMatch http://identifiers.org/snomedct/404058008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334474 property_value: exactMatch NCIT:C4254 [Term] id: MONDO:0000988 name: discharging ear def: "Discharge or drainage of fluid from the ear." [NCIT:P378] xref: DOID:10261 {source="MONDO:equivalentTo"} xref: ICD9:388.6 {source="DOID:10261"} xref: ICD9:388.60 {source="DOID:10261"} is_a: EFO:1001455 {source="DOID:10261"} ! auditory system disease property_value: exactMatch DOID:10261 [Term] id: MONDO:0000991 name: obsolete left bundle branch block def: "OBSOLETE. A bundle branch block in which the activation of the left ventricle is delayed." [MONDO:cjm, Wikipedia:Left_bundle_branch_block] synonym: "left bundle branch [block] or [hemiblock]" RELATED [DOID:10272] synonym: "left bundle branch hemiblock" RELATED [DOID:10272] xref: DOID:10272 {source="MONDO:obsoleteEquivalent"} xref: ICD9:426.2 {source="MONDO:obsoleteEquivalent", source="MONDO:i2s", source="DOID:10272"} xref: SCTID:4973001 {source="MONDO:obsoleteEquivalent", source="DOID:10272"} xref: SCTID:63467002 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0155702 {source="MONDO:obsoleteEquivalent", source="DOID:10272"} property_value: exactMatch DOID:10272 property_value: exactMatch http://identifiers.org/snomedct/4973001 property_value: exactMatch http://identifiers.org/snomedct/63467002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155702 property_value: IAO:0000231 IAO:0000423 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2536 xsd:anyURI is_obsolete: true consider: HP:0011713 [Term] id: MONDO:0000992 name: heart conduction disease def: "A disease that has its basis in the disruption of the heart's electrical conduction system." [https://orcid.org/0000-0002-6601-2165, MONDO:cjm] synonym: "cardiac conduction disease" EXACT [] synonym: "cardiac conduction disorder" EXACT [] synonym: "conduction disease of heart" EXACT [] synonym: "disease of cardiac conduction" EXACT [] synonym: "disorder of cardiac conduction" EXACT [] synonym: "heart rhythm disease" EXACT [DOID:10273] xref: DOID:10273 {source="MONDO:equivalentTo"} xref: ICD9:426.6 {source="DOID:10273"} xref: SCTID:44808001 {source="MONDO:equivalentTo"} is_a: EFO:0003777 {source="DOID:10273", source="MONDO:Entailed", source="MONDO:Redundant"} ! heart disease property_value: exactMatch DOID:10273 property_value: exactMatch http://identifiers.org/snomedct/44808001 [Term] id: MONDO:0000995 name: familial periodic paralysis def: "A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally." [NCIT:C84709] subset: disease_grouping subset: gard_rare {source="GARD:0006422"} subset: ordo_group_of_disorders synonym: "familial periodic paralyses" RELATED OMO:0003005 [] synonym: "familial periodic paralysis" EXACT [MESH:D010245, NCIT:C84709] synonym: "familial periodic paralyzes" RELATED [MESH:D010245] synonym: "genetic periodic paralysis" RELATED [GARD:0006422, Orphanet:371433] synonym: "hereditary periodic paralysis (disease)" EXACT [MONDO:patterns/hereditary] synonym: "normokalemic periodic paralyses" RELATED OMO:0003005 [] synonym: "normokalemic periodic paralysis" RELATED [MESH:D010245] synonym: "normokalemic periodic paralyzes" RELATED [MESH:D010245] synonym: "paralysis, familial periodic" RELATED [MESH:D010245] synonym: "paralysis, normokalemic periodic" RELATED [MESH:D010245] synonym: "paralyzes, normokalemic periodic" RELATED [MESH:D010245] synonym: "periodic paralysis, familial" RELATED [MESH:D010245] synonym: "periodic paralysis, normokalemic" RELATED [MESH:D010245] synonym: "periodic paralyzes, familial" RELATED [MESH:D010245] synonym: "periodic paralyzes, normokalemic" RELATED [MESH:D010245] xref: DOID:1029 {source="MONDO:equivalentTo"} xref: MESH:D010245 {source="MONDO:equivalentTo", source="DOID:1029"} xref: NCIT:C84709 {source="MONDO:equivalentTo", source="DOID:1029"} xref: Orphanet:371433 {source="MONDO:equivalentTo", source="GARD:0006422"} xref: SCTID:267607008 {source="MONDO:equivalentTo", source="DOID:1029"} is_a: MONDO:0004689 {source="DOID:1029", source="MESH:D010245"} ! inborn metal metabolism disorder is_a: MONDO:0016122 ! periodic paralysis intersection_of: MONDO:0016122 ! periodic paralysis intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch DOID:1029 property_value: exactMatch http://identifiers.org/mesh/D010245 property_value: exactMatch http://identifiers.org/snomedct/267607008 property_value: exactMatch NCIT:C84709 property_value: exactMatch Orphanet:371433 property_value: excluded_subClassOf MONDO:0003939 {source="MESH:D010245", source="Orphanet:371433/inferred"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6422/familial-periodic-paralysis xsd:anyURI {source="GARD:0006422"} [Term] id: MONDO:0001014 name: chronic leukemia def: "A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia." [NCIT:C3483] synonym: "adult chronic leukaemia" RELATED OMO:0003005 [] synonym: "adult chronic leukemia" RELATED [DOID:1036] synonym: "chronic leukaemia (disease)" EXACT OMO:0003005 [] synonym: "chronic leukemia" EXACT [NCIT:C3483] synonym: "chronic leukemia (disease)" EXACT [] synonym: "CLL" RELATED ABBREVIATION [DOID:1036] synonym: "CML" RELATED ABBREVIATION [DOID:1036] synonym: "leukaemia (disease), chronic" EXACT OMO:0003005 [] synonym: "leukemia (disease), chronic" EXACT [MONDO:patterns/chronic] xref: DOID:1036 {source="MONDO:equivalentTo"} xref: ICD9:208.10 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3483 {source="DOID:1036", source="MONDO:equivalentTo"} xref: SCTID:92812005 {source="MONDO:equivalentTo"} xref: UMLS:C1279296 {source="NCIT:C3483", source="MONDO:equivalentTo"} is_a: EFO:0000565 {source="DOID:1036", source="MONDO:Redundant", source="NCIT:C3483"} ! leukemia property_value: exactMatch DOID:1036 property_value: exactMatch http://identifiers.org/snomedct/92812005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1279296 property_value: exactMatch NCIT:C3483 [Term] id: MONDO:0001020 name: amblyopia def: "Decreased vision that results from abnormal visual development." [NCIT:C118764] synonym: "amblyopia" EXACT [MONDO:ambiguous] synonym: "amblyopia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "lazy eye" RELATED [NCIT:C118764] xref: CSP:1114-9655 {source="DOID:10376"} xref: DOID:10376 {source="MONDO:equivalentTo"} xref: HP:0000646 {source="MONDO:otherHierarchy"} xref: ICD9:368.00 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10376"} xref: MESH:D000550 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo", source="DOID:10376"} xref: NCIT:C118764 {source="NCIT:C118764", source="MONDO:equivalentTo", source="DOID:10376"} xref: SCTID:387742006 {source="MONDO:equivalentTo", source="DOID:10376"} xref: UMLS:C0002418 {source="NCIT:C118764", source="MONDO:equivalentTo", source="DOID:10376"} is_a: MONDO:0021084 {source="NCIT:C118764", source="NCIT:C118764/inferred"} ! vision disorder property_value: exactMatch DOID:10376 property_value: exactMatch http://identifiers.org/mesh/D000550 property_value: exactMatch http://identifiers.org/snomedct/387742006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002418 property_value: exactMatch NCIT:C118764 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000589 "amblyopia (disease)" xsd:string [Term] id: MONDO:0001023 name: prolymphocytic leukemia def: "A mature B- or T- cell leukemia with progressive clinical course. It is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen." [NCIT:C3181] synonym: "PLL" EXACT ABBREVIATION [NCIT:C3181] synonym: "prolymphocytic leukaemia (B or T)" EXACT OMO:0003005 [] synonym: "prolymphocytic leukaemia (B or T-cell)" EXACT OMO:0003005 [] synonym: "prolymphocytic leukemia" EXACT [NCIT:C3181] synonym: "prolymphocytic leukemia (B or T)" EXACT [NCIT:C3181] synonym: "prolymphocytic leukemia (B or T-cell)" EXACT [NCIT:C3181] xref: DOID:1039 {source="MONDO:equivalentTo"} xref: ICD9:204.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9832/3 {source="NCIT:C3181"} xref: MESH:D015463 {source="MONDO:equivalentTo", source="DOID:1039"} xref: NCIT:C3181 {source="MONDO:equivalentTo", source="DOID:1039", source="MONDO:exact-label-match"} xref: SCTID:110006004 {source="MONDO:equivalentTo", source="DOID:1039"} xref: UMLS:C0023486 {source="MONDO:equivalentTo", source="DOID:1039", source="NCIT:C3181"} is_a: EFO:0000220 {source="DOID:1039/inferred", source="MONDO:Redundant", source="NCIT:C3181"} ! acute lymphoblastic leukemia is_a: MONDO:0001014 {source="NCIT:C3181"} ! chronic leukemia property_value: exactMatch DOID:1039 property_value: exactMatch http://identifiers.org/mesh/D015463 property_value: exactMatch http://identifiers.org/snomedct/110006004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023486 property_value: exactMatch NCIT:C3181 [Term] id: MONDO:0001029 name: Klippel-Feil syndrome def: "A congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy." [https://rarediseases.info.nih.gov/diseases/10280/klippel-feil-syndrome] comment: Usage notes: this class includes both isolated forms and forms that are features of other syndromes subset: gard_rare {source="GARD:0010280"} synonym: "autosomal dominant Klippel-Feil syndrome" RELATED [DOID:10426] synonym: "cervical vertebral fusion" RELATED [GARD:0010280] synonym: "congenital dystrophia brevicollis" RELATED [DOID:10426] synonym: "congenital synostosis of cervical vertebrae" RELATED [DOID:10426] synonym: "Klippel Feil syndrome" RELATED [GARD:0010280] synonym: "Klippel-Feil and Turner syndrome" RELATED [DOID:10426] synonym: "Klippel-Feil deformity, deafness and facial asymmetry" RELATED [DOID:10426] synonym: "Klippel-Feil Sequence" EXACT [NCIT:C98967] xref: DOID:10426 {source="MONDO:equivalentTo"} xref: ICD10CM:Q76.1 {source="DOID:10426", source="MONDO:equivalentTo"} xref: ICD9:756.16 {source="DOID:10426", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D007714 {source="DOID:10426", source="MONDO:equivalentTo"} xref: NCIT:C98967 {source="DOID:10426", source="MONDO:equivalentTo"} xref: OMIMPS:118100 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: SCTID:5601008 {source="DOID:10426", source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0009676 {source="https://orcid.org/0000-0001-5208-3432"} ! musculoskeletal system disease property_value: exactMatch DOID:10426 property_value: exactMatch http://identifiers.org/mesh/D007714 property_value: exactMatch http://identifiers.org/snomedct/5601008 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q76.1 property_value: exactMatch https://omim.org/phenotypicSeries/PS118100 property_value: exactMatch NCIT:C98967 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10280/klippel-feil-syndrome xsd:anyURI {source="GARD:0010280"} [Term] id: MONDO:0001040 name: nasopharyngitis def: "An inflammatory process that affects the nasopharynx." [NCIT:P378] synonym: "chronic nasopharyngitis" EXACT [DOID:10460] synonym: "inflammation of nasopharynx" EXACT [] synonym: "nasopharynx inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:10460 {source="MONDO:equivalentTo"} xref: ICD9:472.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10460"} xref: MESH:D009304 {source="MONDO:equivalentTo", source="DOID:10460"} xref: NCIT:C34837 {source="MONDO:equivalentTo", source="DOID:10460"} xref: SCTID:47841006 {source="MONDO:equivalentTo", source="DOID:10460"} xref: UMLS:C0027441 {source="NCIT:C34837", source="MONDO:equivalentTo", source="DOID:10460"} xref: UMLS:C0155826 {source="MONDO:equivalentTo", source="DOID:10460"} is_a: EFO:0009903 {source="MONDO:Redundant"} ! inflammatory disease is_a: MONDO:0004821 {source="DOID:10460", source="MESH:D009304", source="MONDO:Redundant", source="NCIT:C34837"} ! nasopharyngeal disorder property_value: exactMatch DOID:10460 property_value: exactMatch http://identifiers.org/mesh/D009304 property_value: exactMatch http://identifiers.org/snomedct/47841006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027441 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155826 property_value: exactMatch NCIT:C34837 [Term] id: MONDO:0001045 name: intestinal atresia def: "A congenital malformation characterized by the absence of a normal opening in a part of the intestine. It can occur either in the small or the large intestine." [NCIT:P378] synonym: "atresia of the intestine" EXACT [NCIT:C84790] synonym: "congenital intestinal atresia" EXACT [NCIT:C84790] synonym: "intestinal atresia" EXACT [MONDO:ambiguous] synonym: "intestinal atresia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:10486 {source="MONDO:equivalentTo"} xref: HP:0011100 {source="MONDO:otherHierarchy"} xref: MESH:D007409 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo", source="DOID:10486"} xref: NCIT:C84790 {source="MONDO:equivalentTo", source="DOID:10486"} xref: UMLS:C0021828 {source="MONDO:equivalentTo", source="NCIT:C84790", source="DOID:10486"} is_a: EFO:0009431 {source="DOID:10486", source="NCIT:C84790/inferred"} ! intestinal disease property_value: exactMatch DOID:10486 property_value: exactMatch http://identifiers.org/mesh/D007409 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0021828 property_value: exactMatch NCIT:C84790 property_value: IAO:0000589 "intestinal atresia (disease)" xsd:string [Term] id: MONDO:0001056 name: gastric cancer def: "A primary or metastatic malignant neoplasm involving the stomach." [NCIT:C9331] synonym: "Ca body - stomach" NARROW [DOID:10534] synonym: "ca greater curvature of stomach" NARROW [DOID:10534] synonym: "Ca lesser curvature - stomach" EXACT [DOID:10534] synonym: "cancer of stomach" EXACT [MONDO:patterns/cancer] synonym: "gastric cancer" EXACT [DOID:10534] synonym: "gastric cancer risk after h. pylori infection" EXACT [OMIM:613659, OMIM:genemap2] synonym: "gastric cancer, intestinal" RELATED [OMIM:613659] synonym: "gastric cancer, somatic" EXACT [OMIM:613659, OMIM:genemap2] synonym: "gastric neoplasm" BROAD [DOID:10534, NCIT:C3387] synonym: "malignant gastric neoplasm" EXACT [NCIT:C9331] synonym: "malignant gastric tumor" EXACT [NCIT:C9331] synonym: "malignant gastric tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of body of stomach" NARROW [DOID:10534] synonym: "malignant neoplasm of lesser curve of stomach" EXACT [DOID:10534] synonym: "malignant neoplasm of stomach" EXACT [MONDO:patterns/cancer, NCIT:C9331] synonym: "malignant neoplasm of the stomach" EXACT [NCIT:C9331] synonym: "malignant stomach neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of body of stomach" EXACT [DOID:10534] synonym: "malignant tumor of greater curve of stomach" EXACT [DOID:10534] synonym: "malignant tumor of lesser curve of stomach" EXACT [DOID:10534] synonym: "malignant tumor of stomach" EXACT [NCIT:C9331] synonym: "malignant tumor of the stomach" EXACT [NCIT:C9331] synonym: "malignant tumour of body of stomach" EXACT OMO:0003005 [] synonym: "malignant tumour of greater curve of stomach" EXACT OMO:0003005 [] synonym: "malignant tumour of lesser curve of stomach" EXACT OMO:0003005 [] synonym: "malignant tumour of stomach" EXACT OMO:0003005 [] synonym: "malignant tumour of the stomach" EXACT OMO:0003005 [] synonym: "stomach cancer" EXACT [MONDO:patterns/location] xref: DOID:10534 {source="MONDO:equivalentTo"} xref: ICD10CM:C16 {source="DOID:10534", source="MONDO:equivalentTo"} xref: ICD9:151 {source="DOID:10534"} xref: ICD9:151.4 {source="DOID:10534"} xref: ICD9:151.5 {source="DOID:10534"} xref: ICD9:151.6 {source="DOID:10534"} xref: ICD9:151.9 {source="DOID:10534"} xref: NCIT:C9331 {source="DOID:10534", source="MONDO:equivalentTo"} xref: OMIM:613659 {source="DOID:10534", source="MONDO:equivalentTo"} xref: Orphanet:63443 {source="MONDO:relatedTo", source="OMIM:613659"} is_a: EFO:0003897 {source="MONDO:Redundant", source="NCIT:C9331"} ! stomach neoplasm is_a: MONDO:0002516 {source="DOID:10534", source="ICD10CM:C16", source="MONDO:Redundant", source="NCIT:C9331"} ! digestive system cancer property_value: exactMatch DOID:10534 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/C16 property_value: exactMatch https://omim.org/entry/613659 property_value: exactMatch NCIT:C9331 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0001059 name: gastric lymphoma def: "An extranodal lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue." [NCIT:C4636] synonym: "gastric lymphoma" EXACT [NCIT:C4636] synonym: "lymphoma of stomach" EXACT [NCIT:C4636] synonym: "lymphoma of the stomach" EXACT [DOID:10540, NCIT:C4636] synonym: "primary gastric lymphoma" EXACT [NCIT:C4636] synonym: "stomach lymphoma" EXACT [MONDO:patterns/location] xref: DOID:10540 {source="MONDO:equivalentTo"} xref: ICD9:202.83 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4636 {source="MONDO:equivalentTo", source="DOID:10540"} xref: SCTID:276811008 {source="MONDO:equivalentTo", source="DOID:10540"} xref: UMLS:C0349532 {source="MONDO:equivalentTo", source="DOID:10540", source="NCIT:C4636"} is_a: MONDO:0001056 {source="DOID:10540", source="MONDO:Redundant", source="NCIT:C4636"} ! gastric cancer is_a: MONDO:0004699 {source="MONDO:Redundant", source="NCIT:C4636"} ! gastrointestinal lymphoma is_a: MONDO:0018502 ! hereditary gastric cancer property_value: exactMatch DOID:10540 property_value: exactMatch http://identifiers.org/snomedct/276811008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349532 property_value: exactMatch NCIT:C4636 [Term] id: MONDO:0001063 name: cardia cancer def: "A malignant neoplasm involving the cardia of stomach." [https://orcid.org/0000-0002-6601-2165] synonym: "Ca cardia - stomach" EXACT [DOID:10548] synonym: "cancer of cardia of stomach" EXACT [MONDO:patterns/cancer] synonym: "cardia of stomach cancer" EXACT [MONDO:patterns/location] synonym: "malignant cardia of stomach neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of cardia of stomach" EXACT [DOID:10548, MONDO:patterns/cancer] xref: DOID:10548 {source="MONDO:equivalentTo"} xref: ICD9:151.0 {source="DOID:10548", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:187732006 {source="DOID:10548", source="MONDO:equivalentTo"} xref: UMLS:C0153417 {source="DOID:10548", source="MONDO:equivalentTo"} is_a: MONDO:0001056 {source="DOID:10548", source="MONDO:Redundant"} ! gastric cancer property_value: exactMatch DOID:10548 property_value: exactMatch http://identifiers.org/snomedct/187732006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153417 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0001078 name: tropical sprue def: "A rare disorder of the digestive tract characterized by malabsorption and anemia. It is likely caused by infection leading to small intestinal mucosal injury, bacterial overgrowth and inflammatory changes. It is most prevalent in residents and visitors to tropical and subtropical climates. Clinical signs include anorexia, abdominal bloating, diarrhea and weight loss. Clinical course may progress to deficiencies of folate, vitamin B12 and iron. Prognosis is favorable with nutrient replacement and antibiotic therapy, however relapses are common." [NCIT:P378] subset: gard_rare {source="GARD:0007824"} synonym: "idiopathic tropical malabsorption syndrome" RELATED [GARD:0007824] synonym: "post-infective tropical malabsorption" EXACT [NCIT:C45428] synonym: "sprue - tropical" EXACT [DOID:10607] synonym: "tropical enteropathy" RELATED [GARD:0007824] synonym: "tropical steatorrhea" EXACT [DOID:10607] xref: DOID:10607 {source="MONDO:equivalentTo"} xref: ICD10CM:K90.1 {source="MONDO:equivalentTo", source="DOID:10607"} xref: ICD9:579.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10607"} xref: MESH:D013182 {source="MONDO:equivalentTo", source="DOID:10607"} xref: NCIT:C45428 {source="MONDO:equivalentTo", source="DOID:10607"} xref: SCTID:47384003 {source="MONDO:equivalentTo", source="DOID:10607"} xref: UMLS:C0038054 {source="MONDO:equivalentTo", source="DOID:10607", source="NCIT:C45428"} is_a: EFO:0009554 ! malabsorption syndrome property_value: exactMatch DOID:10607 property_value: exactMatch http://identifiers.org/mesh/D013182 property_value: exactMatch http://identifiers.org/snomedct/47384003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038054 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K90.1 property_value: exactMatch NCIT:C45428 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7824/tropical-sprue xsd:anyURI {source="GARD:0007824"} [Term] id: MONDO:0001082 name: lymph node cancer def: "A primary or metastatic malignant tumor involving the lymph node. Lymphomas and metastatic carcinomas are representative examples. -- 2004" [NCIT:C35812] synonym: "cancer of lymph node" EXACT [MONDO:patterns/cancer] synonym: "lymph node cancer" EXACT [MONDO:patterns/location, NCIT:C35812] synonym: "lymph node neoplasm" BROAD [DOID:10619, NCIT:C35497] synonym: "malignant lymph node neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C35812] synonym: "malignant neoplasm of lymph node" EXACT [MONDO:patterns/cancer] xref: DOID:10619 {source="MONDO:equivalentTo"} xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C35812 {source="MONDO:equivalentTo"} xref: SCTID:127232002 {source="MONDO:equivalentTo", source="DOID:10619"} is_a: MONDO:0000612 {source="DOID:10619", source="MONDO:Entailed", source="MONDO:Redundant"} ! lymphatic system cancer is_a: MONDO:0024339 {source="MONDO:Redundant", source="NCIT:C35812"} ! lymph node neoplasm property_value: exactMatch DOID:10619 property_value: exactMatch http://identifiers.org/snomedct/127232002 property_value: exactMatch NCIT:C35812 [Term] id: MONDO:0001083 name: Fanconi renotubular syndrome def: "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients." [NCIT:C3034] subset: gard_rare {source="GARD:0009120"} synonym: "adult Fanconi syndrome" NARROW [DOID:1062] synonym: "congenital Fanconi syndrome" NARROW [DOID:1062] synonym: "De toni-debre-Fanconi syndrome" EXACT [NCIT:C3034] synonym: "De toni-Fanconi syndrome" EXACT [DOID:1062] synonym: "deToni Fanconi syndrome" EXACT [DOID:1062] synonym: "Fanconi syndrome" EXACT [NCIT:C3034] synonym: "Fanconi's syndrome" EXACT [NCIT:C3034] synonym: "Fanconi-de toni syndrome" EXACT [DOID:1062] synonym: "Fanconi-de-toni syndrome" EXACT [DOID:1062] synonym: "infantile nephropathic cystinosis" RELATED [DOID:1062] synonym: "Lignac-Fanconi syndrome" EXACT [DOID:1062, NCIT:C3034] synonym: "toni-debre-Fanconi syndrome" RELATED [GARD:0009120] xref: DOID:1062 {source="MONDO:equivalentTo"} xref: MESH:D005198 {source="MONDO:equivalentTo", source="DOID:1062"} xref: NCIT:C3034 {source="MONDO:equivalentTo", source="DOID:1062"} xref: SCTID:40488004 {source="MONDO:equivalentTo", source="DOID:1062"} xref: UMLS:C0015624 {source="MONDO:equivalentTo", source="NCIT:C3034", source="DOID:1062"} is_a: EFO:0009566 ! renal tubule disease is_a: EFO:1000647 {source="DOID:1062", source="MESH:D005198"} ! renal tubular transport disease is_a: MONDO:0002254 {source="NCIT:C3034"} ! syndromic disease property_value: exactMatch DOID:1062 property_value: exactMatch http://identifiers.org/mesh/D005198 property_value: exactMatch http://identifiers.org/snomedct/40488004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015624 property_value: exactMatch NCIT:C3034 property_value: excluded_subClassOf MONDO:0003847 {source="NCIT:C3034"} property_value: excluded_synonym "adult Fanconi Anemia" xsd:string {source="DOID:1062"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9120/fanconi-syndrome xsd:anyURI {source="GARD:0009120"} [Term] id: MONDO:0001084 name: primary optic atrophy xref: DOID:10627 {source="MONDO:equivalentTo"} xref: ICD9:377.11 {source="DOID:10627", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:21098003 {source="DOID:10627", source="MONDO:equivalentTo"} xref: UMLS:C0155291 {source="DOID:10627", source="MONDO:equivalentTo"} is_a: MONDO:0003608 {source="DOID:10627"} ! optic atrophy property_value: exactMatch DOID:10627 property_value: exactMatch http://identifiers.org/snomedct/21098003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155291 [Term] id: MONDO:0001085 name: interstitial nephritis def: "Inflammation of the renal tubules and supporting tissues of the kidney." [NCIT:P378] synonym: "renal tubulo-interstitial disease" EXACT [DOID:1063] synonym: "Tubulointerstitial nephritis" EXACT [NCIT:C26834] xref: DOID:1063 {source="MONDO:equivalentTo"} xref: ICD10CM:N10-N16 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:583.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D009395 {source="MONDO:equivalentTo", source="DOID:1063"} xref: NCIT:C26834 {source="MONDO:equivalentTo", source="DOID:1063"} xref: SCTID:28689008 {source="MONDO:equivalentTo", source="DOID:1063"} xref: UMLS:C0027707 {source="MONDO:equivalentTo", source="NCIT:C26834", source="DOID:1063"} xref: UMLS:C0041349 {source="MONDO:equivalentTo"} is_a: EFO:1002050 {source="DOID:1063", source="MESH:D009395", source="NCIT:C26834"} ! nephritis property_value: exactMatch DOID:1063 property_value: exactMatch http://identifiers.org/mesh/D009395 property_value: exactMatch http://identifiers.org/snomedct/28689008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027707 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041349 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/N10-N16 property_value: exactMatch NCIT:C26834 [Term] id: MONDO:0001087 name: schizotypal personality disorder def: "A disorder characterized by an enduring pattern of inability to establish close relationships coupled with cognitive or perceptual distortions, odd beliefs and speech, and eccentric behavior and appearance." [NCIT:P378] xref: DOID:10646 {source="MONDO:equivalentTo"} xref: ICD9:301.22 {source="DOID:10646", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D012569 {source="DOID:10646", source="MONDO:equivalentTo"} xref: NCIT:C92632 {source="DOID:10646", source="MONDO:equivalentTo"} xref: SCTID:31027006 {source="DOID:10646", source="MONDO:equivalentTo"} is_a: MONDO:0002028 {source="DOID:10646", source="NCIT:C92632"} ! personality disorder property_value: exactMatch DOID:10646 property_value: exactMatch http://identifiers.org/mesh/D012569 property_value: exactMatch http://identifiers.org/snomedct/31027006 property_value: exactMatch NCIT:C92632 [Term] id: MONDO:0001104 name: toxic diffuse goiter xref: DOID:10719 {source="MONDO:equivalentTo"} xref: ICD9:242.00 {source="DOID:10719"} xref: SCTID:267374005 {source="MONDO:equivalentTo"} is_a: EFO:0009189 {source="DOID:10719"} ! hyperthyroidism property_value: exactMatch DOID:10719 property_value: exactMatch http://identifiers.org/snomedct/267374005 [Term] id: MONDO:0001110 name: chronic pyelonephritis def: "Persistent pyelonephritis." [NCIT:P378] synonym: "pyelonephritis, chronic" EXACT [MONDO:patterns/chronic] xref: DOID:1076 {source="MONDO:equivalentTo"} xref: ICD9:590.0 {source="DOID:1076"} xref: NCIT:C123216 {source="DOID:1076", source="MONDO:equivalentTo"} xref: SCTID:63302006 {source="DOID:1076", source="MONDO:equivalentTo"} xref: UMLS:C0085697 {source="DOID:1076", source="MONDO:equivalentTo", source="NCIT:C123216"} is_a: EFO:0003884 ! chronic kidney disease is_a: EFO:1001141 {source="DOID:1076", source="MONDO:Redundant", source="NCIT:C123216"} ! pyelonephritis property_value: exactMatch DOID:1076 property_value: exactMatch http://identifiers.org/snomedct/63302006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085697 property_value: exactMatch NCIT:C123216 [Term] id: MONDO:0001115 name: familial polycythemia def: "Polycythemia that occurs in groups of related individuals." [NCIT:C26955] synonym: "erythrocytosis, familial" EXACT [OMIMPS:133100] synonym: "familial polycythemia" EXACT [NCIT:C26955] synonym: "hereditary polycythemia (disease)" EXACT [MONDO:patterns/hereditary] synonym: "primary polycythemia" NARROW [DOID:10780] xref: DOID:10780 {source="MONDO:equivalentTo"} xref: ICD9:289.6 {source="DOID:10780"} xref: NCIT:C26955 {source="MONDO:equivalentTo", source="DOID:10780"} xref: OMIMPS:133100 {source="MONDO:equivalentTo", source="DOID:10780"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0005804 {source="DOID:10780", source="MONDO:Redundant", source="NCIT:C26955/inferred"} ! polycythemia intersection_of: EFO:0005804 ! polycythemia intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch DOID:10780 property_value: exactMatch https://omim.org/phenotypicSeries/PS133100 property_value: exactMatch NCIT:C26955 [Term] id: MONDO:0001117 name: methemoglobinemia def: "An inherited or acquired condition characterized by abnormally increased levels of methemoglobin in the blood." [NCIT:C34817] synonym: "methemoglobinemias" EXACT [MESH:D008708] xref: DOID:10783 {source="MONDO:equivalentTo"} xref: ICD9:289.7 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10783"} xref: MedDRA:10027496 xref: MESH:D008708 {source="MONDO:equivalentTo", source="DOID:10783"} xref: NCIT:C34817 {source="MONDO:equivalentTo", source="DOID:10783"} xref: SCTID:38959009 {source="MONDO:equivalentTo", source="DOID:10783"} xref: UMLS:C0025637 {source="NCIT:C34817", source="MONDO:equivalentTo", source="DOID:10783"} is_a: MONDO:0044348 ! hemoglobinopathy property_value: exactMatch DOID:10783 property_value: exactMatch http://identifiers.org/mesh/D008708 property_value: exactMatch http://identifiers.org/snomedct/38959009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025637 property_value: exactMatch NCIT:C34817 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4614 xsd:anyURI [Term] id: MONDO:0001128 name: nasal cavity cancer def: "A malignant neoplasm involving the nasal cavity" [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of nasal cavity" EXACT [MONDO:patterns/cancer] synonym: "malignant nasal cavity neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4918] synonym: "malignant nasal cavity tumor" EXACT [NCIT:C4918] synonym: "malignant nasal cavity tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of nasal cavities" EXACT [DOID:10811, ICD9CM:160.0] synonym: "malignant neoplasm of nasal cavity" EXACT [MONDO:patterns/cancer, NCIT:C4918] synonym: "malignant neoplasm of the nasal cavity" EXACT [NCIT:C4918] synonym: "malignant tumor of nasal cavity" EXACT [NCIT:C4918] synonym: "malignant tumor of the nasal cavity" EXACT [DOID:10811, NCIT:C4918] synonym: "malignant tumour of nasal cavity" EXACT OMO:0003005 [] synonym: "malignant tumour of the nasal cavity" EXACT OMO:0003005 [] synonym: "nasal cavity cancer" EXACT [MONDO:patterns/location] xref: DOID:10811 {source="MONDO:equivalentTo"} xref: ICD9:160.0 {source="DOID:10811", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C4918 {source="DOID:10811", source="MONDO:equivalentTo"} xref: SCTID:363422006 {source="DOID:10811", source="MONDO:equivalentTo"} xref: UMLS:C0728864 {source="DOID:10811", source="NCIT:C4918", source="MONDO:equivalentTo"} is_a: EFO:0006859 {source="MONDO:Redundant", source="NCIT:C4918"} ! head and neck malignant neoplasia is_a: MONDO:0000376 {source="DOID:10811", source="MONDO:Redundant"} ! respiratory system cancer is_a: MONDO:0000649 ! sensory system cancer is_a: MONDO:0004756 {source="MONDO:Redundant", source="NCIT:C4918"} ! nasal cavity neoplasm property_value: exactMatch DOID:10811 property_value: exactMatch http://identifiers.org/snomedct/363422006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0728864 property_value: exactMatch NCIT:C4918 [Term] id: MONDO:0001134 name: essential hypertension def: "Hypertension that presents without an identifiable cause." [NCIT:P378] synonym: "idiopathic hypertension" EXACT [DOID:10825, Wikipedia:Essential_hypertension] synonym: "primary hypertension" EXACT [DOID:10825, NCIT:C3478, Wikipedia:Essential_hypertension] xref: DOID:10825 {source="MONDO:equivalentTo"} xref: EFO:1002032 {source="MONDO:equivalentTo"} xref: ICD9:401 {source="DOID:10825"} xref: ICD9:401.9 {source="DOID:10825", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D000075222 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: Orphanet:243761 {source="MONDO:equivalentObsolete", source="DOID:10825"} xref: SCTID:59621000 {source="DOID:10825", source="MONDO:equivalentTo"} xref: UMLS:C0085580 {source="DOID:10825", source="MONDO:equivalentTo"} is_a: EFO:0000537 {source="DOID:10825", source="EFO:1002032", source="MESH:C562386"} ! hypertension is_a: MONDO:0005044 ! hypertensive disorder property_value: exactMatch DOID:10825 property_value: exactMatch DOID:10825 property_value: exactMatch http://identifiers.org/mesh/D000075222 property_value: exactMatch http://identifiers.org/mesh/D000075222 property_value: exactMatch http://identifiers.org/snomedct/59621000 property_value: exactMatch http://identifiers.org/snomedct/59621000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085580 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085580 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0001146 name: fourth cranial nerve palsy def: "A cranial nerve palsy that involves the trochlear nerve." [MONDO:patterns/location] synonym: "cranial nerve palsy of trochlear nerve" EXACT [] synonym: "fourth nerve palsy" EXACT [DOID:10869] synonym: "fourth or trochlear nerve palsy" EXACT [DOID:10869, ICD9CM:378.53] synonym: "trochlear nerve cranial nerve palsy" EXACT [MONDO:patterns/location] xref: DOID:10869 {source="MONDO:equivalentTo"} xref: ICD9:378.53 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:20610004 {source="MONDO:equivalentTo"} is_a: EFO:0009489 ! cranial nerve palsy is_a: EFO:1001220 ! trochlear nerve disease property_value: exactMatch DOID:10869 property_value: exactMatch http://identifiers.org/snomedct/20610004 property_value: excluded_subClassOf MONDO:0001143 {source="DOID:10869"} [Term] id: MONDO:0001147 name: meningocele def: "A congenital abnormality in which the meninges protrude through a defect in the spinal column or the cranium." [NCIT:C105595] subset: gard_rare synonym: "central nervous system meningocele" EXACT [NCIT:C105595] synonym: "meningocele" EXACT [MONDO:ambiguous, NCIT:C105595] synonym: "meningocele (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "spinal meningocele" NARROW [] xref: DOID:1088 {source="MONDO:equivalentTo"} xref: HP:0002435 {source="MONDO:otherHierarchy"} xref: MESH:D008588 {source="DOID:1088", source="MONDO:equivalentTo"} xref: NCIT:C101209 {source="MONDO:equivalentTo"} xref: NCIT:C105595 {source="MONDO:equivalentTo"} xref: Orphanet:93968 {source="MONDO:equivalentObsolete"} xref: SCTID:171131006 {source="DOID:1088", source="MONDO:equivalentTo"} xref: UMLS:C0025299 {source="DOID:1088", source="MONDO:equivalentTo"} is_a: MONDO:0002320 {source="NCIT:C105595"} ! congenital nervous system disorder property_value: exactMatch DOID:1088 property_value: exactMatch http://identifiers.org/mesh/D008588 property_value: exactMatch http://identifiers.org/snomedct/171131006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025299 property_value: exactMatch NCIT:C101209 property_value: exactMatch NCIT:C105595 property_value: excluded_subClassOf MONDO:0008449 {source="DOID:1088"} property_value: IAO:0000589 "meningocele (disease)" xsd:string [Term] id: MONDO:0001149 name: microcephaly def: "A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex." [NCIT:P378] subset: gard_rare synonym: "microcephalus" EXACT [DOID:10907, ICD9CM:742.1] synonym: "microcephaly" EXACT [MONDO:ambiguous] synonym: "microcephaly (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "microencephaly" EXACT [DOID:10907] xref: DOID:10907 {source="MONDO:equivalentTo"} xref: HP:0000252 {source="MONDO:otherHierarchy"} xref: ICD9:742.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10907"} xref: MESH:D008831 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo", source="DOID:10907"} xref: NCIT:C85874 {source="MONDO:equivalentTo", source="DOID:10907"} xref: SCTID:1829003 {source="MONDO:equivalentTo", source="DOID:10907"} is_a: EFO:0010642 {source="https://orcid.org/0000-0001-5208-3432"} ! Neurodevelopmental disorder is_a: MONDO:0016054 {source="https://www.clinicalgenome.org/affiliation/40020/"} ! cerebral malformation property_value: exactMatch DOID:10907 property_value: exactMatch http://identifiers.org/mesh/D008831 property_value: exactMatch http://identifiers.org/snomedct/1829003 property_value: exactMatch NCIT:C85874 property_value: excluded_subClassOf MONDO:0002320 {source="DOID:10907"} property_value: IAO:0000589 "microcephaly (disease)" xsd:string [Term] id: MONDO:0001152 name: amnestic disorder def: "Systematic and extensive loss of memory caused by organic or psychological factors. The loss may be temporary or permanent, and may involve old or recent memories." [NCIT:P378] synonym: "amnesia" EXACT [DOID:10914] synonym: "amnesic syndrome" RELATED [] synonym: "amnestic syndrome" EXACT [DOID:10914, NCIT:C35764] synonym: "Korsakoff's psychosis or syndrome" EXACT [DOID:10914] xref: DOID:10914 {source="MONDO:equivalentTo"} xref: EFO:1001454 {source="MONDO:equivalentTo"} xref: ICD9:294.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10914"} xref: SCTID:3298001 {source="MONDO:equivalentTo", source="DOID:10914"} is_a: MONDO:0002039 {source="DOID:10914", source="EFO:1001454", source="MESH:D000647"} ! cognitive disorder property_value: exactMatch DOID:10914 property_value: exactMatch http://identifiers.org/snomedct/3298001 [Term] id: MONDO:0001157 name: dependent personality disorder def: "A disorder characterized by an enduring pattern of an extreme need to be taken care of together with fear of separation that lead the individual to urgently seek out and submit to another person and allow that person to make decisions that impact all areas of the individual's life." [NCIT:P378] xref: DOID:10931 {source="MONDO:equivalentTo"} xref: ICD10CM:F60.7 {source="DOID:10931", source="MONDO:equivalentTo"} xref: ICD9:301.6 {source="DOID:10931", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D003859 {source="DOID:10931", source="MONDO:equivalentTo"} xref: NCIT:C92637 {source="DOID:10931", source="MONDO:equivalentTo"} xref: SCTID:84466009 {source="DOID:10931", source="MONDO:equivalentTo"} is_a: MONDO:0002028 {source="DOID:10931", source="NCIT:C92637"} ! personality disorder property_value: exactMatch DOID:10931 property_value: exactMatch http://identifiers.org/mesh/D003859 property_value: exactMatch http://identifiers.org/snomedct/84466009 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/F60.7 property_value: exactMatch NCIT:C92637 [Term] id: MONDO:0001160 name: dissociative disorder def: "A category of psychiatric disorders which are characterized by a disruption in the usually integrated functions of consciousness, memory, identity, and/or perception of the environment." [NCIT:P378] synonym: "dissociative disease" EXACT [DOID:10935] synonym: "dissociative reaction" EXACT [DOID:10935] xref: DOID:10935 {source="MONDO:equivalentTo"} xref: ICD9:300.15 {source="DOID:10935"} xref: ICD9:300.9 {source="DOID:10935", source="MONDO:directSiblingOf"} xref: MESH:D004213 {source="DOID:10935", source="MONDO:equivalentTo"} xref: NCIT:C92197 {source="DOID:10935", source="MONDO:equivalentTo"} is_a: MONDO:0002025 {source="DOID:10935", source="MESH:D004213", source="NCIT:C92197"} ! psychiatric disorder property_value: exactMatch DOID:10935 property_value: exactMatch http://identifiers.org/mesh/D004213 property_value: exactMatch NCIT:C92197 [Term] id: MONDO:0001161 name: schizoid personality disorder def: "A disorder characterized by an enduring pattern of extreme social detachment and lack of involvement in interpersonal activities, coupled with emotional coldness." [NCIT:P378] xref: DOID:10936 {source="MONDO:equivalentTo"} xref: ICD10CM:F60.1 {source="MONDO:equivalentTo", source="DOID:10936"} xref: ICD9:301.2 {source="DOID:10936"} xref: ICD9:301.20 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10936"} xref: MESH:D012557 {source="MONDO:equivalentTo", source="DOID:10936"} xref: NCIT:C92631 {source="MONDO:equivalentTo", source="DOID:10936"} xref: SCTID:52954000 {source="MONDO:equivalentTo", source="DOID:10936"} is_a: MONDO:0002028 {source="DOID:10936", source="NCIT:C92631"} ! personality disorder property_value: exactMatch DOID:10936 property_value: exactMatch http://identifiers.org/mesh/D012557 property_value: exactMatch http://identifiers.org/snomedct/52954000 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/F60.1 property_value: exactMatch NCIT:C92631 [Term] id: MONDO:0001162 name: impulse control disorder def: "A category of behaviors that can be loosely defined as the failure to resist an impulsive act or behavior that may be harmful to self or others." [NCIT:P378] synonym: "ICD" EXACT ABBREVIATION [NCIT:C34723] synonym: "impulse-control disorder" EXACT [NCIT:C34723] xref: DOID:10937 {source="MONDO:equivalentTo"} xref: ICD9:312.30 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10937"} xref: ICD9:312.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C34723 {source="MONDO:equivalentTo", source="DOID:10937"} xref: SCTID:66347000 {source="MONDO:equivalentTo", source="DOID:10937"} is_a: MONDO:0002025 {source="DOID:10937", source="NCIT:C34723"} ! psychiatric disorder property_value: exactMatch DOID:10937 property_value: exactMatch http://identifiers.org/snomedct/66347000 property_value: exactMatch NCIT:C34723 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0001163 name: paranoid personality disorder def: "A disorder characterized by an enduring pattern of behavior based on the pervasive belief that the motives of others are malevolent and that they should not be trusted." [NCIT:P378] xref: DOID:10938 {source="MONDO:equivalentTo"} xref: ICD10CM:F60.0 {source="MONDO:equivalentTo", source="DOID:10938"} xref: ICD9:301.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10938"} xref: MESH:D010260 {source="MONDO:equivalentTo", source="DOID:10938"} xref: NCIT:C92630 {source="MONDO:equivalentTo", source="DOID:10938"} xref: SCTID:13601005 {source="MONDO:equivalentTo", source="DOID:10938"} is_a: MONDO:0002028 {source="DOID:10938", source="NCIT:C92630"} ! personality disorder property_value: exactMatch DOID:10938 property_value: exactMatch http://identifiers.org/mesh/D010260 property_value: exactMatch http://identifiers.org/snomedct/13601005 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/F60.0 property_value: exactMatch NCIT:C92630 [Term] id: MONDO:0001165 name: tongue disorder def: "A disease involving the tongue." [https://orcid.org/0000-0002-6601-2165] synonym: "disease of tongue" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of tongue" EXACT [] synonym: "disorder of tongue" EXACT [MONDO:patterns/location_top] synonym: "tongue disease" EXACT [MONDO:patterns/location] synonym: "tongue disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:10944 {source="MONDO:equivalentTo"} xref: ICD9:529.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:529.9 {source="DOID:10944", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D014060 {source="DOID:10944", source="MONDO:equivalentTo"} xref: NCIT:C173793 {source="MONDO:equivalentTo"} xref: SCTID:69244009 {source="DOID:10944", source="MONDO:equivalentTo"} xref: UMLS:C0040409 {source="DOID:10944", source="MONDO:equivalentTo"} is_a: EFO:1001047 {source="DOID:10944", source="MESH:D014060", source="MONDO:Redundant"} ! mouth disease property_value: exactMatch DOID:10944 property_value: exactMatch http://identifiers.org/mesh/D014060 property_value: exactMatch http://identifiers.org/snomedct/69244009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040409 property_value: exactMatch NCIT:C173793 [Term] id: MONDO:0001169 name: spastic monoplegia def: "A spastic cerebral palsy that affects only one limb." [DOID:10968, http://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic] synonym: "infantile monoplegic cerebral palsy" EXACT [DOID:10968] synonym: "monoplegic infantile cerebral palsy" EXACT [DOID:10968, ICD9CM:343.3] synonym: "spastic monoplegic cerebral palsy" EXACT [DOID:10968] xref: DOID:10968 {source="MONDO:equivalentTo"} xref: ICD9:343.3 {source="DOID:10968"} xref: UMLS:C0154698 {source="DOID:10968", source="MONDO:equivalentTo"} is_a: MONDO:0000396 {source="DOID:10968", source="Wikipedia:Spastic_cerebral_palsy"} ! spastic cerebral palsy property_value: exactMatch DOID:10968 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154698 [Term] id: MONDO:0001174 name: conjunctival vascular disorder def: "A disorder of the vasculature of the cornea." [NCIT:P378] synonym: "conjunctival vascular abnormality" EXACT [DOID:10989] synonym: "conjunctival vascular disorder" EXACT [NCIT:C35116] synonym: "conjunctival vasculature disease" EXACT [MONDO:patterns/location] synonym: "conjunctival vasculature disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "disease of conjunctival vasculature" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of conjunctival vasculature" EXACT [] synonym: "disorder of conjunctival vasculature" EXACT [MONDO:patterns/location_top] synonym: "vascular abnormalities of conjunctiva" EXACT [DOID:10989, ICD9CM:372.74] xref: DOID:10989 {source="MONDO:equivalentTo"} xref: ICD9:372.74 {source="MONDO:equivalentTo", source="DOID:10989", source="MONDO:i2s"} xref: NCIT:C35116 {source="MONDO:equivalentTo", source="DOID:10989"} xref: SCTID:74100001 {source="MONDO:equivalentTo", source="DOID:10989"} is_a: EFO:0005753 ! ocular vascular disease is_a: EFO:1000203 {source="DOID:10989", source="MONDO:Redundant"} ! Conjunctival Disorder property_value: exactMatch DOID:10989 property_value: exactMatch http://identifiers.org/snomedct/74100001 property_value: exactMatch NCIT:C35116 [Term] id: MONDO:0001182 name: idiopathic corneal edema xref: DOID:11033 {source="MONDO:equivalentTo"} xref: ICD9:371.21 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11033"} xref: SCTID:1794009 {source="MONDO:equivalentTo", source="DOID:11033"} xref: UMLS:C0155109 {source="MONDO:equivalentTo", source="DOID:11033"} is_a: EFO:1000879 {source="DOID:11033"} ! corneal edema is_a: MONDO:0700007 ! idiopathic disease intersection_of: EFO:1000879 ! corneal edema intersection_of: has_characteristic MONDO:0700005 ! idiopathic property_value: exactMatch DOID:11033 property_value: exactMatch http://identifiers.org/snomedct/1794009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155109 [Term] id: MONDO:0001187 name: urinary bladder cancer def: "A primary or metastatic malignant neoplasm involving the bladder." [NCIT:C9334] synonym: "bladder cancer, somatic" EXACT [OMIM:109800, OMIM:genemap2] synonym: "cancer of urinary bladder" EXACT [MONDO:patterns/cancer] synonym: "malignant bladder neoplasm" EXACT [NCIT:C9334] synonym: "malignant bladder tumor" EXACT [NCIT:C9334] synonym: "malignant bladder tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of bladder" EXACT [NCIT:C9334] synonym: "malignant neoplasm of the bladder" EXACT [NCIT:C9334] synonym: "malignant neoplasm of the urinary bladder" EXACT [NCIT:C9334] synonym: "malignant neoplasm of urinary bladder" EXACT [MONDO:patterns/cancer, NCIT:C9334] synonym: "malignant neoplasm, bladder" EXACT [NCIT:C9334] synonym: "malignant neoplasm, urinary bladder" EXACT [NCIT:C9334] synonym: "malignant tumor of bladder" EXACT [NCIT:C9334] synonym: "malignant tumor of the bladder" EXACT [NCIT:C9334] synonym: "malignant tumor of the urinary bladder" EXACT [NCIT:C9334] synonym: "malignant tumor of urinary bladder" EXACT [NCIT:C9334] synonym: "malignant tumor, urinary bladder" EXACT [NCIT:C9334] synonym: "malignant tumour of bladder" EXACT OMO:0003005 [] synonym: "malignant tumour of the bladder" EXACT OMO:0003005 [] synonym: "malignant tumour of the urinary bladder" EXACT OMO:0003005 [] synonym: "malignant tumour of urinary bladder" EXACT OMO:0003005 [] synonym: "malignant urinary bladder neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9334] synonym: "malignant urinary bladder tumor" EXACT [NCIT:C9334] synonym: "malignant urinary bladder tumour" EXACT OMO:0003005 [] synonym: "tumor of the bladder" BROAD [DOID:11054, NCIT:C2901] synonym: "tumour of the bladder" BROAD OMO:0003005 [] synonym: "urinary bladder cancer" EXACT [MONDO:patterns/location] synonym: "urinary bladder malignant neoplasm" EXACT [NCIT:C9334] synonym: "urinary bladder malignant tumor" EXACT [NCIT:C9334] synonym: "urinary bladder malignant tumour" EXACT OMO:0003005 [] xref: DOID:11054 {source="MONDO:equivalentTo"} xref: ICD9:188 {source="DOID:11054"} xref: ICD9:188.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:188.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11054"} xref: NCIT:C9334 {source="MONDO:equivalentTo", source="DOID:11054"} xref: OMIM:109800 {source="MONDO:equivalentTo", source="DOID:11054"} xref: Orphanet:157980 {source="MONDO:equivalentObsolete"} xref: SCTID:399326009 {source="MONDO:equivalentTo", source="DOID:11054"} xref: UMLS:C0005684 {source="NCIT:C9334", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:11054"} is_a: EFO:0000294 {source="MONDO:Redundant", source="NCIT:C9334"} ! bladder tumor is_a: EFO:1000363 {source="DOID:11054", source="MONDO:Redundant", source="NCIT:C9334"} ! Malignant Urinary System Neoplasm property_value: exactMatch DOID:11054 property_value: exactMatch http://identifiers.org/snomedct/399326009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005684 property_value: exactMatch https://omim.org/entry/109800 property_value: exactMatch NCIT:C9334 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0001197 name: qualitative platelet defect synonym: "qualitative platelet defect" EXACT [] synonym: "qualitative platelet deficiency" EXACT [DOID:11125] xref: DOID:11125 {source="MONDO:equivalentTo"} xref: ICD9:287.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11125"} xref: SCTID:267532001 {source="MONDO:equivalentTo", source="DOID:11125"} xref: UMLS:C0235604 {source="MONDO:equivalentTo", source="DOID:11125"} is_a: MONDO:0002245 {source="DOID:11125"} ! blood platelet disease property_value: exactMatch DOID:11125 property_value: exactMatch http://identifiers.org/snomedct/267532001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0235604 [Term] id: MONDO:0001198 name: acquired thrombocytopenia def: "An instance of thrombocytopenia that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] synonym: "acquired thrombocytopenia" EXACT [MONDO:patterns/acquired] synonym: "secondary thrombocytopenia" EXACT [DOID:11126, ICD9CM:287.4] xref: DOID:11126 {source="MONDO:equivalentTo"} xref: ICD9:287.4 {source="DOID:11126", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:74576004 {source="DOID:11126", source="MONDO:equivalentTo"} xref: UMLS:C0154301 {source="DOID:11126", source="MONDO:equivalentTo"} is_a: MONDO:0002245 ! blood platelet disease relationship: has_characteristic MONDO:0021141 ! acquired property_value: exactMatch DOID:11126 property_value: exactMatch http://identifiers.org/snomedct/74576004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154301 [Term] id: MONDO:0001208 name: acute respiratory failure def: "Life-threatening respiratory failure that develops rapidly. Causes include injury, sepsis, drug overdose, and pancreatitis. It manifests with dyspnea and cyanosis and may lead to cardiovascular shock." [NCIT:C27043] synonym: "acute respiratory failure" EXACT [NCIT:C27043] synonym: "respiratory failure, acute" EXACT [MONDO:patterns/acute] xref: ICD9:518.81 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C27043 {source="MONDO:equivalentTo"} xref: SCTID:65710008 {source="MONDO:equivalentTo"} xref: UMLS:C0264490 {source="NCIT:C27043", source="MONDO:equivalentTo"} is_a: EFO:0009686 {source="MONDO:Redundant", source="NCIT:C27043"} ! respiratory failure is_a: MONDO:0020683 ! acute disease property_value: exactMatch http://identifiers.org/snomedct/65710008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264490 property_value: exactMatch NCIT:C27043 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0001212 name: non-suppurative otitis media def: "A otitis media which involves transudation of fluid in the middle ear without pus formation." [DOID:11180, http://www.ncbi.nlm.nih.gov/sites/entrez/1195971] synonym: "nonsuppurative otitis media" EXACT [DOID:11180] xref: DOID:11180 {source="MONDO:equivalentTo"} xref: ICD9:381.4 {source="DOID:11180", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:275481002 {source="DOID:11180", source="MONDO:equivalentTo"} xref: UMLS:C0271446 {source="DOID:11180", source="MONDO:equivalentTo"} is_a: EFO:0004992 {source="DOID:11180"} ! Otitis media property_value: exactMatch DOID:11180 property_value: exactMatch http://identifiers.org/snomedct/275481002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271446 [Term] id: MONDO:0001214 name: acute conjunctivitis def: "Acute inflammation of the conjunctiva." [NCIT:C35195] synonym: "acute conjunctivitis (disease)" EXACT [] synonym: "conjunctivitis (disease), acute" EXACT [MONDO:patterns/acute] xref: DOID:11184 {source="MONDO:equivalentTo"} xref: ICD9:372.00 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:372.03 {source="DOID:11184"} xref: NCIT:C35195 {source="MONDO:equivalentTo"} xref: SCTID:53726008 {source="MONDO:equivalentTo"} xref: UMLS:C0155141 {source="NCIT:C35195", source="MONDO:equivalentTo"} is_a: EFO:0009450 {source="DOID:11184", source="MONDO:Redundant", source="NCIT:C35195"} ! conjunctivitis is_a: MONDO:0020683 ! acute disease property_value: exactMatch DOID:11184 property_value: exactMatch http://identifiers.org/snomedct/53726008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155141 property_value: exactMatch NCIT:C35195 [Term] id: MONDO:0001222 name: congenital T-cell immunodeficiency def: "A broad classification of inherited disorders presenting at birth that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective." [NCIT:C27872] synonym: "congenital T-cell immunodeficiency" EXACT [NCIT:C27872] synonym: "T cell deficiency" RELATED [DOID:11200] xref: DOID:11200 {source="MONDO:equivalentTo"} xref: NCIT:C27872 {source="NCIT:C27872", source="MONDO:equivalentTo", source="DOID:11200"} xref: UMLS:C1333147 {source="NCIT:C27872", source="MONDO:equivalentTo", source="DOID:11200"} is_a: MONDO:0003780 {source="NCIT:C27872"} ! T-cell immunodeficiency relationship: has_characteristic MONDO:0021140 ! congenital property_value: exactMatch DOID:11200 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333147 property_value: exactMatch NCIT:C27872 property_value: excluded_subClassOf MONDO:0003778 {source="DOID:11200"} [Term] id: MONDO:0001230 name: acute orbital inflammation synonym: "acute inflammation of orbit" EXACT [DOID:11230, ICD9CM:376.0] xref: DOID:11230 {source="MONDO:equivalentTo"} xref: ICD9:376.0 {source="DOID:11230"} xref: ICD9:376.00 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11230"} xref: SCTID:20551005 {source="MONDO:equivalentTo", source="DOID:11230"} is_a: MONDO:0004751 {source="DOID:11230"} ! disease of orbital part of eye adnexa is_a: MONDO:0020683 ! acute disease property_value: exactMatch DOID:11230 property_value: exactMatch http://identifiers.org/snomedct/20551005 [Term] id: MONDO:0001235 name: appendix cancer def: "A malignant neoplasm involving the vermiform appendix" [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of the appendix" EXACT [DOID:11239, NCIT:C9330] synonym: "cancer of vermiform appendix" EXACT [MONDO:patterns/cancer] synonym: "malignant appendix neoplasm" EXACT [NCIT:C9333] synonym: "malignant appendix tumor" EXACT [NCIT:C9333] synonym: "malignant appendix tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of appendix" EXACT [NCIT:C9333] synonym: "malignant neoplasm of appendix vermiformis" EXACT [DOID:11239, ICD9CM:153.5, NCIT:C9333] synonym: "malignant neoplasm of the appendix" EXACT [NCIT:C9333] synonym: "malignant neoplasm of vermiform appendix" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of appendix" EXACT [NCIT:C9333] synonym: "malignant tumor of the appendix" EXACT [DOID:11239, NCIT:C9333] synonym: "malignant tumour of appendix" EXACT OMO:0003005 [] synonym: "malignant tumour of the appendix" EXACT OMO:0003005 [] synonym: "malignant vermiform appendix neoplasm" EXACT [MONDO:patterns/cancer] synonym: "vermiform appendix cancer" EXACT [MONDO:patterns/location] xref: DOID:11239 {source="MONDO:equivalentTo"} xref: ICD9:153.5 {source="DOID:11239", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C9333 {source="DOID:11239", source="MONDO:equivalentTo"} xref: SCTID:363411007 {source="DOID:11239", source="MONDO:equivalentTo"} xref: UMLS:C0496779 {source="DOID:11239", source="NCIT:C9333", source="MONDO:equivalentTo"} is_a: EFO:0003880 {source="MONDO:Redundant", source="NCIT:C9333"} ! appendiceal neoplasm is_a: MONDO:0002033 ! cecum cancer property_value: exactMatch DOID:11239 property_value: exactMatch http://identifiers.org/snomedct/363411007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0496779 property_value: exactMatch NCIT:C9333 [Term] id: MONDO:0001240 name: neonatal anemia def: "The mildest form of erythroblastosis fetalis in which anemia is the chief manifestation." [MESH:D000751] synonym: "anaemia neonatal" EXACT OMO:0003005 [] synonym: "anemia neonatal" EXACT [DOID:11244, MTH:NOCODE] xref: DOID:11244 {source="MONDO:equivalentTo"} xref: MESH:D000751 {source="MONDO:equivalentTo", source="DOID:11244"} xref: SCTID:234350007 {source="MONDO:equivalentTo", source="DOID:11244"} xref: UMLS:C0002891 {source="MONDO:equivalentTo", source="DOID:11244"} is_a: EFO:0010238 ! perinatal disease is_a: MONDO:0002280 {source="DOID:11244", source="MESH:D000751"} ! anemia property_value: exactMatch DOID:11244 property_value: exactMatch http://identifiers.org/mesh/D000751 property_value: exactMatch http://identifiers.org/snomedct/234350007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002891 [Term] id: MONDO:0001245 name: microcytic anemia def: "Anemia in which the red blood cell volume is decreased." [NCIT:P378] xref: DOID:11252 {source="MONDO:equivalentTo"} xref: HP:0001935 {source="MONDO:otherHierarchy"} xref: NCIT:C35141 {source="MONDO:equivalentTo", source="DOID:11252"} xref: SCTID:234349007 {source="MONDO:equivalentTo", source="DOID:11252"} is_a: MONDO:0002280 {source="DOID:11252", source="NCIT:C35141"} ! anemia property_value: exactMatch DOID:11252 property_value: exactMatch http://identifiers.org/snomedct/234349007 property_value: exactMatch NCIT:C35141 [Term] id: MONDO:0001256 name: arteriovenous hemangioma/malformation def: "A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures." [NCIT:C2882] comment: Editor note: NCIT conflates hemangioma and malformation synonym: "arteriovenous angioma" EXACT [NCIT:C2882] synonym: "arteriovenous hemangioma" EXACT [NCIT:C2882] synonym: "arteriovenous hemangioma/malformation" EXACT [NCIT:C2882] synonym: "arteriovenous malformation" RELATED [DOID:11294] synonym: "cirsoid aneurysm" RELATED [DOID:11294] synonym: "racemose aneurysm" EXACT [DOID:11294] synonym: "racemose aneurysm (morphologic abnormality)" EXACT [DOID:11294] synonym: "racemose angioma" EXACT [DOID:11294, NCIT:C4297] synonym: "racemose hemangioma" EXACT [NCIT:C2882] synonym: "racemose hemangioma (morphologic abnormality)" EXACT [DOID:11294] xref: CSP:0571-2717 {source="DOID:11294"} xref: DOID:11294 {source="MONDO:equivalentTo"} xref: HP:0100026 {source="MONDO:otherHierarchy", source="DOID:11294"} xref: ICDO:9123/0 {source="NCIT:C2882"} xref: MESH:D001165 {source="MONDO:equivalentTo"} xref: NCIT:C2882 {source="MONDO:equivalentTo", source="DOID:11294"} xref: SCTID:233982006 {source="MONDO:equivalentTo", source="DOID:11294"} xref: UMLS:C0334533 {source="MONDO:equivalentTo", source="DOID:11294"} is_a: EFO:1000635 {source="DOID:11294"} ! hemangioma property_value: exactMatch DOID:11294 property_value: exactMatch http://identifiers.org/mesh/D001165 property_value: exactMatch http://identifiers.org/snomedct/233982006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334533 property_value: exactMatch NCIT:C2882 [Term] id: MONDO:0001259 name: pituitary gland infarction def: "Ischemic necrosis of the pituitary gland." [NCIT:P378] synonym: "pituitary gland infarction" EXACT [NCIT:C27117] synonym: "pituitary infarct" EXACT [DOID:1130] synonym: "pituitary infarction" EXACT [DOID:1130, NCIT:C27117] xref: DOID:1130 {source="MONDO:equivalentTo"} xref: ICD9:253.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C27117 {source="DOID:1130", source="MONDO:equivalentTo"} xref: SCTID:95830009 {source="DOID:1130", source="MONDO:equivalentTo"} xref: UMLS:C0342405 {source="DOID:1130", source="MONDO:equivalentTo", source="NCIT:C27117"} is_a: MONDO:0002721 {source="DOID:1130"} ! necrosis of pituitary property_value: exactMatch DOID:1130 property_value: exactMatch http://identifiers.org/snomedct/95830009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342405 property_value: exactMatch NCIT:C27117 [Term] id: MONDO:0001269 name: scleral disorder def: "A disorder affecting the sclera. Examples include inflammatory processes (e.g., scleritis and episcleritis), and degenerative processes. Primary tumors of the sclera are extremely rare." [NCIT:P378] synonym: "disease of sclera" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of sclera" EXACT [] synonym: "disorder of sclera" EXACT [MONDO:patterns/location_top] synonym: "sclera disease" EXACT [MONDO:patterns/location] synonym: "sclera disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "sclera disorder" EXACT [NCIT:C79717] synonym: "scleral disorder" EXACT [NCIT:C79717] xref: DOID:11343 {source="MONDO:equivalentTo"} xref: ICD9:379.19 xref: MESH:D015422 {source="MONDO:equivalentTo", source="DOID:11343"} xref: NCIT:C79717 {source="MONDO:equivalentTo", source="DOID:11343"} xref: Orphanet:519298 {source="MONDO:mondoIsBroaderThanSource"} xref: SCTID:33064008 {source="MONDO:equivalentTo", source="DOID:11343"} xref: UMLS:C0036412 {source="MONDO:equivalentTo", source="DOID:11343"} is_a: EFO:0003966 {source="DOID:11343", source="MESH:D015422", source="MONDO:Redundant", source="NCIT:C79717"} ! eye disease property_value: exactMatch DOID:11343 property_value: exactMatch http://identifiers.org/mesh/D015422 property_value: exactMatch http://identifiers.org/snomedct/33064008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036412 property_value: exactMatch NCIT:C79717 property_value: narrowMatch Orphanet:519298 [Term] id: MONDO:0001280 name: choroiditis def: "An inflammatory process that affects the choroid." [NCIT:C35111] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:280892"} synonym: "Choroiditides" EXACT [MESH:D002833] synonym: "choroiditis" EXACT [NCIT:C35111, Orphanet:280892] synonym: "posterior uveitis" RELATED [MONDO:ambiguous, NCIT:C35111] synonym: "posterior uveitis (disease)" RELATED [MONDO:0017254] xref: DOID:11406 {source="MONDO:equivalentTo"} xref: HP:0012123 {source="MONDO:otherHierarchy"} xref: MedDRA:10036370 {source="Orphanet:280892", source="Orphanet:280892/e"} xref: MESH:D002833 {source="DOID:11406", source="MONDO:equivalentTo"} xref: NCIT:C35111 {source="DOID:11406", source="MONDO:equivalentTo"} xref: Orphanet:280892 {source="MONDO:equivalentTo"} xref: SCTID:16553002 {source="DOID:11406", source="MONDO:equivalentTo"} xref: UMLS:C0008526 {source="DOID:11406", source="MONDO:equivalentTo", source="Orphanet:280892"} xref: UMLS:C0042167 {source="NCIT:C35111", source="MONDO:equivalentTo", source="Orphanet:280892", source="Orphanet:280892/e"} is_a: EFO:0006803 ! vasculitis is_a: EFO:1001119 ! posterior uveitis is_a: MONDO:0001898 {source="DOID:11406", source="MESH:D002833", source="MONDO:Redundant"} ! optic choroid disorder property_value: closeMatch http://identifiers.org/meddra/10036370 property_value: exactMatch DOID:11406 property_value: exactMatch http://identifiers.org/mesh/D002833 property_value: exactMatch http://identifiers.org/snomedct/16553002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008526 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042167 property_value: exactMatch NCIT:C35111 property_value: exactMatch Orphanet:280892 [Term] id: MONDO:0001282 name: fallopian tube endometriosis def: "Endometriosis that affects the fallopian tube. Symptoms include infertility, pelvic pain, painful menstruation, and painful intercourse." [NCIT:C26763] synonym: "endometriosis (disease) of fallopian tube" EXACT [] synonym: "endometriosis of fallopian tube" EXACT [DOID:11424, ICD9CM:617.2] synonym: "fallopian tube endometriosis" EXACT [NCIT:C26763] synonym: "fallopian tube endometriosis (disease)" EXACT [MONDO:patterns/location] xref: DOID:11424 {source="MONDO:equivalentTo"} xref: ICD9:617.2 {source="DOID:11424", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C26763 {source="DOID:11424", source="MONDO:equivalentTo"} xref: SCTID:22611009 {source="DOID:11424", source="MONDO:equivalentTo"} xref: UMLS:C0014177 {source="DOID:11424", source="MONDO:equivalentTo", source="NCIT:C26763"} is_a: EFO:0001065 {source="DOID:11424", source="ICD10CM:N80.2", source="MONDO:Redundant", source="NCIT:C26763"} ! endometriosis is_a: EFO:0009548 {source="DOID:11424", source="MONDO:Redundant", source="NCIT:C26763/inferred"} ! fallopian tube disease property_value: exactMatch DOID:11424 property_value: exactMatch http://identifiers.org/snomedct/22611009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014177 property_value: exactMatch NCIT:C26763 [Term] id: MONDO:0001285 name: endometriosis of pelvic peritoneum xref: DOID:11429 {source="MONDO:equivalentTo"} xref: ICD10CM:N80.3 {source="MONDO:equivalentTo", source="DOID:11429"} xref: ICD9:617.3 {source="MONDO:equivalentTo", source="DOID:11429", source="MONDO:i2s"} xref: SCTID:198251001 {source="MONDO:equivalentTo", source="DOID:11429"} xref: UMLS:C0156345 {source="MONDO:equivalentTo", source="DOID:11429"} is_a: EFO:0001065 {source="DOID:11429", source="ICD10CM:N80.3", source="MONDO:Redundant"} ! endometriosis property_value: exactMatch DOID:11429 property_value: exactMatch http://identifiers.org/snomedct/198251001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156345 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/N80.3 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0001288 name: endometriosis of rectovaginal septum and vagina def: "Endometriosis that affects the vagina. It is characterized by the presence of endometrial stroma with or without endometrial-type glands in the vagina." [NCIT:C128064] synonym: "vaginal endometriosis" EXACT [NCIT:C128064] xref: DOID:11431 {source="MONDO:equivalentTo"} xref: ICD10CM:N80.4 {source="MONDO:equivalentTo", source="DOID:11431"} xref: ICD9:617.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11431"} xref: NCIT:C128064 {source="MONDO:equivalentTo"} xref: SCTID:198253003 {source="MONDO:equivalentTo", source="DOID:11431"} xref: UMLS:C0156346 {source="MONDO:equivalentTo", source="DOID:11431"} is_a: EFO:0001065 {source="DOID:11431", source="ICD10CM:N80.4", source="NCIT:C128064"} ! endometriosis property_value: exactMatch DOID:11431 property_value: exactMatch http://identifiers.org/snomedct/198253003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156346 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/N80.4 property_value: exactMatch NCIT:C128064 [Term] id: MONDO:0001291 name: brain compression xref: DOID:11457 {source="MONDO:equivalentTo"} xref: ICD10CM:G93.5 {source="DOID:11457", source="MONDO:equivalentTo"} xref: ICD9:348.4 {source="DOID:11457", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:46963008 {source="DOID:11457", source="MONDO:equivalentTo"} xref: UMLS:C0009592 {source="DOID:11457", source="MONDO:equivalentTo"} is_a: EFO:0005774 {source="DOID:11457"} ! brain disease property_value: exactMatch DOID:11457 property_value: exactMatch http://identifiers.org/snomedct/46963008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009592 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G93.5 [Term] id: MONDO:0001294 name: Horner syndrome def: "Horner's syndrome is a rare condition characterized by miosis (constriction of thepupil), ptosis (drooping of the upper eyelid), and anhidrosis (absence of sweating of the face). It iscaused by damage to the sympathetic nerves of the face. The underlying causes of Horner's syndrome vary greatly and may include a tumor, stroke, or other damage to a part of the brain called the brain stem ; injury to the carotid artery ;and trauma to the brachial plexus. In rare cases, Horner's syndrome is congenital (present from birth) and associated with a lack of pigmentation of the iris (colored part of the eye). Treatment of Horner's syndrome depends on the underlying cause." [https://rarediseases.info.nih.gov/diseases/6670/horners-syndrome] subset: gard_rare {source="GARD:0006670"} synonym: "Bernard Horner syndrome" EXACT [DOID:11486] synonym: "Bernard-Horner syndrome" RELATED [GARD:0006670] synonym: "cervical sympathetic paralysis" EXACT [DOID:11486] synonym: "Horner syndrome" EXACT [DOID:11486] synonym: "Horner's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] synonym: "oculosympathetic palsy" RELATED [GARD:0006670] xref: DOID:11486 {source="MONDO:equivalentTo"} xref: ICD9:337.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D006732 {source="MONDO:equivalentTo", source="DOID:11486"} xref: NCIT:C28155 {source="MONDO:equivalentTo", source="DOID:11486"} xref: SCTID:192915005 {source="MONDO:equivalentTo", source="DOID:11486"} is_a: MONDO:0001300 {source="DOID:11486"} ! autonomic neuropathy property_value: exactMatch DOID:11486 property_value: exactMatch http://identifiers.org/mesh/D006732 property_value: exactMatch http://identifiers.org/snomedct/192915005 property_value: exactMatch NCIT:C28155 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6670/horners-syndrome xsd:anyURI {source="GARD:0006670"} [Term] id: MONDO:0001296 name: acquired night blindness def: "An instance of night blindness that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] synonym: "acquired night blindness" EXACT [MONDO:patterns/acquired] xref: DOID:11491 {source="MONDO:equivalentTo"} xref: ICD10CM:H53.62 {source="DOID:11491", source="MONDO:equivalentTo"} xref: ICD9:368.62 {source="DOID:11491", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:53808001 {source="DOID:11491", source="MONDO:equivalentTo"} is_a: EFO:1000639 ! acquired metabolic disease is_a: EFO:1001067 {source="DOID:11491"} ! nutritional deficiency disease is_a: MONDO:0004588 {source="ICD10CM:H53.62", source="MONDO:Redundant"} ! night blindness intersection_of: MONDO:0004588 ! night blindness intersection_of: has_characteristic MONDO:0021141 ! acquired relationship: has_characteristic MONDO:0021141 ! acquired property_value: exactMatch DOID:11491 property_value: exactMatch http://identifiers.org/snomedct/53808001 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H53.62 [Term] id: MONDO:0001299 name: diabetic autonomic neuropathy def: "Autonomic neuropathy that is caused by diabetes mellitus." [NCIT:P378] xref: DOID:11503 {source="MONDO:equivalentTo"} xref: ICD9:337.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C27068 {source="DOID:11503", source="MONDO:equivalentTo"} xref: SCTID:50620007 {source="DOID:11503", source="MONDO:equivalentTo"} xref: UMLS:C0271686 {source="DOID:11503", source="NCIT:C27068", source="MONDO:equivalentTo"} is_a: EFO:1000783 {source="DOID:11503", source="MONDO:Redundant", source="NCIT:C27068"} ! diabetic neuropathy is_a: MONDO:0001300 {source="DOID:11503", source="MONDO:Redundant", source="NCIT:C27068"} ! autonomic neuropathy intersection_of: MONDO:0001300 ! autonomic neuropathy intersection_of: disease_arises_from_feature EFO:0000400 ! diabetes mellitus property_value: exactMatch DOID:11503 property_value: exactMatch http://identifiers.org/snomedct/50620007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271686 property_value: exactMatch NCIT:C27068 [Term] id: MONDO:0001300 name: autonomic neuropathy def: "An inherited or acquired peripheral neuropathy affecting the autonomic nervous system. It results in disruption of the involuntary body functions. Inherited causes include Fabry disease and porphyrias. Acquired causes include diabetes, uremia, hepatic disorders, vitamin deficiencies, toxins, and drug toxicities." [NCIT:C27033] synonym: "autonomic nervous system peripheral neuropathy" EXACT [MONDO:patterns/location] synonym: "autonomic peripheral neuropathy" EXACT [MONDO:0000604] synonym: "peripheral neuropathy of autonomic nervous system" EXACT [MONDO:design_pattern] xref: CSP:2042-2001 {source="DOID:11504"} xref: CSP:2049-9000 {source="DOID:11504"} xref: DOID:0060054 {source="MONDO:equivalentTo"} xref: DOID:11504 {source="MONDO:equivalentTo"} xref: NCIT:C27033 {source="DOID:11504", source="MONDO:equivalentTo"} xref: SCTID:277879009 {source="DOID:11504", source="MONDO:equivalentTo"} xref: UMLS:C0259749 {source="NCIT:C27033", source="DOID:11504", source="MONDO:equivalentTo"} is_a: EFO:0003100 {source="DOID:0060054", source="MONDO:Redundant", source="NCIT:C27033"} ! peripheral neuropathy is_a: EFO:0009532 {source="DOID:11504", source="MONDO:Redundant"} ! autonomic nervous system disease property_value: exactMatch DOID:0060054 property_value: exactMatch DOID:11504 property_value: exactMatch http://identifiers.org/snomedct/277879009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0259749 property_value: exactMatch NCIT:C27033 [Term] id: MONDO:0001302 name: hypertensive heart disease def: "Abnormal enlargement of the heart resulting from long-standing hypertension." [NCIT:C4907] synonym: "hypertensive cardiomegaly" RELATED [] synonym: "hypertensive cardiopathy" RELATED [] synonym: "hypertensive cardiovascular disease" RELATED [] synonym: "hypertensive heart disease" EXACT [] xref: DOID:11516 {source="MONDO:equivalentTo"} xref: ICD9:402 {source="DOID:11516"} xref: ICD9:402.9 {source="DOID:11516"} xref: NCIT:C4907 {source="MONDO:equivalentTo"} xref: SCTID:64715009 {source="DOID:11516", source="MONDO:equivalentTo"} xref: UMLS:C0152105 {source="DOID:11516", source="MONDO:equivalentTo"} is_a: EFO:0003777 {source="DOID:11516", source="MONDO:Redundant", source="NCIT:C4907/inferred"} ! heart disease intersection_of: EFO:0003777 ! heart disease intersection_of: disease_arises_from_feature EFO:0000537 ! hypertension relationship: disease_arises_from_feature EFO:0000537 ! hypertension property_value: exactMatch DOID:11516 property_value: exactMatch http://identifiers.org/snomedct/64715009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152105 property_value: exactMatch NCIT:C4907 [Term] id: MONDO:0001308 name: corneal deposit comment: Editor note: consider placing in HPO synonym: "deposits - cornea" EXACT [DOID:11547] xref: DOID:11547 {source="MONDO:equivalentTo"} xref: ICD10CM:H18.0 {source="MONDO:equivalentTo"} xref: ICD9:371.10 {source="DOID:11547", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:74460005 {source="DOID:11547", source="MONDO:equivalentTo"} xref: UMLS:C0162281 {source="DOID:11547", source="MONDO:equivalentTo"} is_a: EFO:0009464 {source="DOID:11547"} ! corneal disease property_value: exactMatch DOID:11547 property_value: exactMatch http://identifiers.org/snomedct/74460005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162281 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H18.0 [Term] id: MONDO:0001309 name: oculomotor nerve paralysis def: "Paralysis of the oculomotor nerve." [NCIT:C27597] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98685"} synonym: "cranial nerve palsy of oculomotor nerve" EXACT [MONDO:design_pattern] synonym: "III nerve palsy" EXACT [DOID:11550] synonym: "IIIrd nerve paralysis" EXACT [DOID:11550, NCIT:C27597] synonym: "oculomotor nerve cranial nerve palsy" EXACT [MONDO:patterns/location] synonym: "oculomotor nerve paralysis" EXACT [] synonym: "oculomotor palsy" EXACT [MONDO:0020255] synonym: "third cranial nerve paralysis" EXACT [DOID:11550] xref: DOID:11550 {source="MONDO:equivalentTo"} xref: NCIT:C27597 {source="MONDO:equivalentTo", source="DOID:11550"} xref: Orphanet:98685 {source="MONDO:equivalentTo"} xref: SCTID:388980004 {source="MONDO:equivalentTo", source="DOID:11550"} xref: UMLS:C0028866 {source="NCIT:C27597", source="MONDO:equivalentTo", source="DOID:11550"} is_a: EFO:0009489 {source="MONDO:Redundant", source="NCIT:C27597"} ! cranial nerve palsy is_a: MONDO:0003546 {source="DOID:11550", source="MONDO:Redundant", source="NCIT:C27597"} ! third cranial nerve disorder is_a: MONDO:0015368 {source="Orphanet:98685"} ! neuro-ophthalmological disease property_value: exactMatch DOID:11550 property_value: exactMatch http://identifiers.org/snomedct/388980004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0028866 property_value: exactMatch NCIT:C27597 property_value: exactMatch Orphanet:98685 [Term] id: MONDO:0001314 name: chondrocalcinosis def: "An acute episode of pain, swelling, and redness, sometimes associated with fever. It is caused by the deposition of calcium pyrophosphate crystals in the joints." [NCIT:P378] synonym: "calcium pyrophosphate deposition disease" EXACT [DOID:1156] synonym: "pseudogout" EXACT [DOID:1156] xref: DOID:1156 {source="MONDO:equivalentTo"} xref: HP:0000934 {source="DOID:1156", source="MONDO:otherHierarchy"} xref: ICD9:275.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:712.1 {source="DOID:1156"} xref: MESH:D002805 {source="DOID:1156", source="MONDO:equivalentTo"} xref: NCIT:C34955 {source="DOID:1156", source="MONDO:equivalentTo"} xref: SCTID:239832006 {source="MONDO:equivalentTo"} is_a: EFO:0000589 {source="NCIT:C34955"} ! metabolic disease is_a: EFO:0005856 {source="DOID:1156", source="MESH:D002805", source="NCIT:C34955"} ! arthritis property_value: exactMatch DOID:1156 property_value: exactMatch http://identifiers.org/mesh/D002805 property_value: exactMatch http://identifiers.org/snomedct/239832006 property_value: exactMatch NCIT:C34955 [Term] id: MONDO:0001316 name: streptococcal meningitis def: "An infectious meningitis caused by infection with Streptococcus." [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Streptococcus caused infectious meningitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Streptococcus infectious meningitis" EXACT [] xref: DOID:11574 {source="MONDO:equivalentTo"} xref: ICD10CM:G00.2 {source="MONDO:equivalentTo", source="DOID:11574"} xref: ICD9:320.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11574"} xref: SCTID:4510004 {source="MONDO:equivalentTo", source="DOID:11574"} xref: UMLS:C0154639 {source="MONDO:equivalentTo", source="DOID:11574"} is_a: EFO:1000831 {source="DOID:11574", source="MONDO:Redundant"} ! bacterial meningitis is_a: EFO:1001476 ! streptococcal infection property_value: exactMatch DOID:11574 property_value: exactMatch http://identifiers.org/snomedct/4510004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154639 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G00.2 [Term] id: MONDO:0001318 name: functional gastric disease synonym: "disorder of function of stomach" EXACT [] synonym: "disorder of gastric function" EXACT [] synonym: "disorder of stomach function" EXACT [] synonym: "functional gastric disorder" EXACT [] synonym: "functional gastric disturbance" RELATED [] xref: DOID:1159 {source="MONDO:equivalentTo"} xref: ICD9:306.4 xref: ICD9:536.8 {source="DOID:1159"} xref: ICD9:536.9 xref: SCTID:150541000119104 {source="MONDO:equivalentTo"} xref: SCTID:386211005 {source="MONDO:equivalentTo"} is_a: EFO:0009608 {source="DOID:1159", source="MONDO:Redundant"} ! stomach disease property_value: exactMatch DOID:1159 property_value: exactMatch http://identifiers.org/snomedct/150541000119104 property_value: exactMatch http://identifiers.org/snomedct/386211005 [Term] id: MONDO:0001322 name: pericardium cancer def: "A malignant neoplasm involving the pericardium." [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of pericardium" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of pericardium" EXACT [DOID:116, MONDO:patterns/cancer, NCIT:C4567] synonym: "malignant neoplasm of the pericardium" EXACT [NCIT:C4567] synonym: "malignant pericardial neoplasm" EXACT [NCIT:C4567] synonym: "malignant pericardial tumor" EXACT [NCIT:C4567] synonym: "malignant pericardial tumour" EXACT OMO:0003005 [] synonym: "malignant pericardium neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of pericardium" EXACT [DOID:116, NCIT:C4567] synonym: "malignant tumor of the pericardium" EXACT [NCIT:C4567] synonym: "malignant tumour of pericardium" EXACT OMO:0003005 [] synonym: "malignant tumour of the pericardium" EXACT OMO:0003005 [] synonym: "pericardial tumor" BROAD [DOID:116, NCIT:C4651] synonym: "pericardial tumour" BROAD OMO:0003005 [] synonym: "pericardium cancer" EXACT [MONDO:patterns/location] xref: DOID:116 {source="MONDO:equivalentTo"} xref: NCIT:C4567 {source="DOID:116", source="MONDO:equivalentTo"} xref: UMLS:C0346609 {source="DOID:116", source="MONDO:equivalentTo", source="NCIT:C4567"} is_a: MONDO:0001340 {source="DOID:116", source="NCIT:C4567"} ! heart cancer is_a: MONDO:0021381 {source="MONDO:Redundant", source="NCIT:C4567"} ! neoplasm of pericardium property_value: exactMatch DOID:116 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346609 property_value: exactMatch NCIT:C4567 [Term] id: MONDO:0001325 name: penile cancer def: "A primary or metastatic malignant neoplasm that affects the penis. Representative examples include penile carcinoma and penile sarcoma." [NCIT:C7547] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:398043"} synonym: "Ca penis" EXACT [DOID:11615] synonym: "cancer of penis" EXACT [MONDO:patterns/cancer, Orphanet:398043] synonym: "malignant neoplasm of body of penis" EXACT [DOID:11615] synonym: "malignant neoplasm of penis" EXACT [MONDO:patterns/cancer, NCIT:C7547] synonym: "malignant neoplasm of the penis" EXACT [NCIT:C7547] synonym: "malignant penile neoplasm" EXACT [NCIT:C7547] synonym: "malignant penile tumor" EXACT [DOID:11615, NCIT:C7547, Orphanet:398043] synonym: "malignant penile tumour" EXACT OMO:0003005 [] synonym: "malignant penis neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of penis" EXACT [MONDO:0018350, NCIT:C7547] synonym: "malignant tumor of the penis" EXACT [NCIT:C7547] synonym: "malignant tumour of penis" EXACT OMO:0003005 [] synonym: "malignant tumour of the penis" EXACT OMO:0003005 [] synonym: "penile Ca" EXACT [DOID:11615] synonym: "penile cancer" EXACT [Orphanet:398043] synonym: "penile neoplasm" BROAD [DOID:11615] synonym: "penis cancer" EXACT [MONDO:patterns/location] xref: DOID:11615 {source="MONDO:equivalentTo"} xref: ICD9:187.3 {source="DOID:11615"} xref: ICD9:187.4 {source="DOID:11615", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C7547 {source="DOID:11615", source="MONDO:equivalentTo"} xref: Orphanet:398043 {source="MONDO:equivalentTo"} xref: SCTID:363516004 {source="DOID:11615", source="MONDO:equivalentTo"} xref: UMLS:CN226091 {source="MONDO:equivalentTo"} is_a: EFO:0007355 {source="DOID:11615", source="MONDO:Redundant", source="NCIT:C7547"} ! male reproductive organ cancer is_a: EFO:1001094 {source="MONDO:Redundant", source="NCIT:C7547"} ! penile neoplasm relationship: has_characteristic MONDO:0021136 {source="MONDO:0015931"} ! rare property_value: exactMatch DOID:11615 property_value: exactMatch http://identifiers.org/snomedct/363516004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226091 property_value: exactMatch NCIT:C7547 property_value: exactMatch Orphanet:398043 [Term] id: MONDO:0001328 name: thyroid hormone resistance syndrome def: "An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine." [MESH:D018382-modified] synonym: "generalised thyroid hormone resistance" EXACT OMO:0003005 [] synonym: "generalized thyroid hormone resistance" EXACT [DOID:11633] synonym: "resistance to thyroid stimulating hormone" RELATED [] synonym: "resistance to thyrotropin" RELATED [] synonym: "RTH" RELATED ABBREVIATION [doi:10.1210/jcem.84.2.5534] synonym: "thyroid hormone resistance" EXACT [DOID:11633] synonym: "thyroid hormone resistance syndrome" EXACT [] synonym: "thyroid hormone responsiveness defect" EXACT [DOID:11633] synonym: "TSH resistance" RELATED [] xref: DOID:11633 {source="MONDO:equivalentTo"} xref: ICD9:259.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D018382 {source="DOID:11633", source="MONDO:equivalentTo"} xref: SCTID:111567006 {source="DOID:11633", source="MONDO:equivalentTo"} xref: UMLS:CN118820 {source="MONDO:equivalentTo"} is_a: MONDO:0045046 ! inherited thyroid metabolism disease relationship: disease_has_feature EFO:0004127 {source="MESH:D018382"} ! hyperthyroxinemia property_value: exactMatch DOID:11633 property_value: exactMatch http://identifiers.org/mesh/D018382 property_value: exactMatch http://identifiers.org/snomedct/111567006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN118820 property_value: excluded_subClassOf MONDO:0005420 {source="DOID:11633"} [Term] id: MONDO:0001330 name: presbyopia def: "The normal decreasing elasticity of the crystalline lens that leads to loss of accommodation." [MESH:D011305] xref: DOID:11638 {source="MONDO:equivalentTo"} xref: ICD10CM:H52.4 {source="MONDO:equivalentTo", source="DOID:11638"} xref: ICD9:367.4 {source="MONDO:equivalentTo", source="DOID:11638", source="MONDO:i2s"} xref: MESH:D011305 {source="MONDO:equivalentTo", source="DOID:11638"} xref: SCTID:41256004 {source="MONDO:equivalentTo", source="DOID:11638"} xref: UMLS:C0033075 {source="MONDO:equivalentTo", source="DOID:11638"} is_a: MONDO:0000926 {source="DOID:11638"} ! eye accommodation disease is_a: MONDO:0004892 {source="DOID:11638", source="MESH:D011305"} ! refractive error property_value: exactMatch DOID:11638 property_value: exactMatch http://identifiers.org/mesh/D011305 property_value: exactMatch http://identifiers.org/snomedct/41256004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033075 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H52.4 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0001331 name: conjunctival deposit xref: DOID:11653 {source="MONDO:equivalentTo"} xref: ICD9:372.56 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11653"} xref: SCTID:62660000 {source="MONDO:equivalentTo", source="DOID:11653"} xref: UMLS:C0162280 {source="MONDO:equivalentTo", source="DOID:11653"} is_a: EFO:1000203 {source="DOID:11653"} ! Conjunctival Disorder property_value: exactMatch DOID:11653 property_value: exactMatch http://identifiers.org/snomedct/62660000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162280 [Term] id: MONDO:0001332 name: palindromic rheumatism def: "A syndrome that involves sudden and rapidly developing attacks of arthritis with a remission period that results in no joint damage or symptoms." [DOID:1166, http://arthritis.about.com/od/diseasesandconditions/a/palindromic.htm, http://en.wikipedia.org/wiki/Palindromic_rheumatism, http://www.palindromicrheumatism.org/] synonym: "Hench's syndrome" EXACT [DOID:1166] synonym: "Hench-Rosenberg syndrome" EXACT [DOID:1166] xref: DOID:1166 {source="MONDO:equivalentTo"} xref: ICD10CM:M12.3 {source="DOID:1166", source="MONDO:equivalentTo"} xref: ICD9:719.3 {source="DOID:1166"} xref: ICD9:719.30 {source="DOID:1166", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:719.31 {source="DOID:1166"} xref: ICD9:719.32 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:719.33 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:719.36 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:719.38 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538103 {source="DOID:1166", source="MONDO:equivalentTo"} xref: SCTID:50442003 {source="DOID:1166", source="MONDO:equivalentTo"} xref: UMLS:C0085574 {source="DOID:1166", source="MONDO:equivalentTo"} is_a: EFO:0005755 {source="MESH:C538103/inferred"} ! rheumatic disease is_a: MONDO:0002254 {source="DOID:1166"} ! syndromic disease is_a: MONDO:0003366 ! hydrarthrosis property_value: exactMatch DOID:1166 property_value: exactMatch http://identifiers.org/mesh/C538103 property_value: exactMatch http://identifiers.org/snomedct/50442003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085574 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/M12.3 [Term] id: MONDO:0001334 name: hypertrichosis of eyelid def: "A hypertrichosis (disease) that involves the eyelid." [MONDO:patterns/location] synonym: "eyelid hypertrichosis (disease)" EXACT [MONDO:patterns/location] synonym: "hypertrichosis (disease) of eyelid" EXACT [] xref: DOID:11669 {source="MONDO:equivalentTo"} xref: ICD9:374.54 {source="DOID:11669", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:79830009 {source="DOID:11669", source="MONDO:equivalentTo"} xref: UMLS:C0155213 {source="DOID:11669", source="MONDO:equivalentTo"} is_a: EFO:0009547 ! eyelid disease is_a: MONDO:0019280 {source="DOID:11669", source="MONDO:Redundant"} ! hypertrichosis property_value: exactMatch DOID:11669 property_value: exactMatch http://identifiers.org/snomedct/79830009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155213 property_value: excluded_subClassOf MONDO:0000941 {source="DOID:11669"} [Term] id: MONDO:0001336 name: familial hyperlipidemia def: "An instance of hyperlipidemia (disease) that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] synonym: "familial hyperlipemia" RELATED [] synonym: "familial hyperlipoproteinemia" RELATED [DOID:1168] synonym: "hereditary hyperlipidemia (disease)" EXACT [MONDO:patterns/hereditary] synonym: "hyperlipemia" BROAD [DOID:1168] synonym: "hyperlipidaemia" BROAD [DOID:1168] xref: DOID:1168 {source="MONDO:equivalentTo"} xref: ICD10CM:E78.5 {source="MONDO:relatedTo", source="DOID:1168"} xref: MESH:D006949 {source="MONDO:relatedTo", source="DOID:1168"} xref: NCIT:C34709 {source="MONDO:relatedTo", source="DOID:1168"} xref: SCTID:55822004 {source="MONDO:relatedTo", source="DOID:1168"} xref: UMLS:C0020473 {source="MONDO:relatedTo", source="DOID:1168"} xref: UMLS:C0020476 {source="MONDO:relatedTo", source="DOID:1168"} is_a: MONDO:0002525 {source="DOID:1168", source="MONDO:Redundant"} ! inherited lipid metabolism disorder is_a: MONDO:0021187 ! hyperlipidemia intersection_of: MONDO:0021187 ! hyperlipidemia intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch DOID:1168 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0001340 name: heart cancer def: "A malignant neoplasm involving the heart" [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of heart" EXACT [MONDO:patterns/cancer] synonym: "Cardiac neoplasm, malignant" EXACT [NCIT:C3548] synonym: "Cardiac tumor" BROAD [DOID:117, NCIT:C3081] synonym: "Cardiac tumour" BROAD OMO:0003005 [] synonym: "heart cancer" EXACT [MONDO:patterns/location, NCIT:C3548] synonym: "malignant Cardiac neoplasm" EXACT [NCIT:C3548] synonym: "malignant Cardiac tumor" EXACT [DOID:117, NCIT:C3548] synonym: "malignant Cardiac tumour" EXACT OMO:0003005 [] synonym: "malignant heart neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3548] synonym: "malignant heart tumor" EXACT [NCIT:C3548] synonym: "malignant heart tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of heart" EXACT [DOID:117, MONDO:patterns/cancer, NCIT:C3548] synonym: "malignant neoplasm of the heart" EXACT [NCIT:C3548] synonym: "malignant tumor of heart" EXACT [NCIT:C3548] synonym: "malignant tumor of the heart" EXACT [NCIT:C3548] synonym: "malignant tumour of heart" EXACT OMO:0003005 [] synonym: "malignant tumour of the heart" EXACT OMO:0003005 [] synonym: "tumor of heart" BROAD [DOID:117] synonym: "tumour of heart" BROAD OMO:0003005 [] xref: DOID:117 {source="MONDO:equivalentTo"} xref: ICD9:164.1 {source="DOID:117"} xref: MESH:D006338 {source="DOID:117", source="MONDO:equivalentTo"} xref: NCIT:C3548 {source="DOID:117", source="MONDO:equivalentTo"} is_a: EFO:1001339 {source="MONDO:Redundant", source="NCIT:C3548"} ! Heart neoplasm is_a: MONDO:0002100 {source="DOID:117", source="MONDO:Redundant", source="NCIT:C3548"} ! cardiovascular cancer is_a: MONDO:0003274 ! thoracic cancer property_value: exactMatch DOID:117 property_value: exactMatch http://identifiers.org/mesh/D006338 property_value: exactMatch NCIT:C3548 [Term] id: MONDO:0001342 name: dysgammaglobulinemia def: "An immunologic deficiency state characterized by selective deficiencies of one or more, but not all, classes of immunoglobulins." [MESH:D004406] synonym: "dysgammaglobulinemia" EXACT [MONDO:ambiguous] synonym: "dysgammaglobulinemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "dysgammaglobulinemia (finding)" EXACT [DOID:11702] xref: DOID:11702 {source="MONDO:equivalentTo"} xref: HP:0002961 {source="MONDO:otherHierarchy"} xref: MESH:D004406 {source="DOID:11702", source="MONDO:equivalentTo"} xref: SCTID:123782009 {source="DOID:11702", source="MONDO:equivalentTo"} xref: UMLS:C0013374 {source="DOID:11702", source="MONDO:equivalentTo"} is_a: MONDO:0003739 {source="DOID:11702"} ! selective immunoglobulin deficiency disease property_value: exactMatch DOID:11702 property_value: exactMatch http://identifiers.org/mesh/D004406 property_value: exactMatch http://identifiers.org/snomedct/123782009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013374 property_value: IAO:0000589 "dysgammaglobulinemia (disease)" xsd:string [Term] id: MONDO:0001343 name: impaired renal function disease def: "Any disease in which the causes of the disease is a perturbation of the kidney leading to its dysfunction." [MONDO:patterns/disease_by_dysfunctional_structure] synonym: "disease of kidney" BROAD [MONDO:patterns/disease_by_dysfunctional_structure] synonym: "kidney disease" BROAD [] synonym: "renal dysfunction" EXACT [] xref: DOID:11705 {source="MONDO:equivalentObsolete"} xref: ICD10CM:N25 {source="MONDO:equivalentTo"} xref: ICD9:588.8 {source="DOID:11705"} xref: ICD9:588.89 {source="DOID:11705"} xref: ICD9:588.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:197663003 {source="MONDO:equivalentTo"} is_a: EFO:0003086 {source="DOID:11705"} ! kidney disease property_value: exactMatch http://identifiers.org/snomedct/197663003 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/N25 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0001347 name: facioscapulohumeral muscular dystrophy def: "An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well." [NCIT:P378] subset: ordo_disease {source="Orphanet:269"} synonym: "facioscapulohumeral dystrophy" EXACT [MONDO:0017099] synonym: "facioscapulohumeral muscular dystrophy" EXACT [Orphanet:269] synonym: "facioscapulohumeral myopathy" EXACT [Orphanet:269] synonym: "FSH dystrophy" EXACT [Orphanet:269] synonym: "FSHD" EXACT ABBREVIATION [Orphanet:269] synonym: "Landouzy Dejerine muscular dystrophy" EXACT [DOID:11727] synonym: "Landouzy-Dejerine muscular dystrophy" EXACT [DOID:11727] synonym: "Landouzy-Dejerine myopathy" EXACT [Orphanet:269] synonym: "muscular dystrophy, Landouzy-Dejerine" EXACT [DOID:11727] xref: DOID:11727 {source="MONDO:equivalentTo"} xref: MedDRA:10064087 {source="Orphanet:269", source="Orphanet:269/e"} xref: MESH:D020391 {source="DOID:11727", source="MONDO:equivalentTo"} xref: NCIT:C84704 {source="DOID:11727", source="MONDO:equivalentTo"} xref: OMIMPS:158900 {source="MONDO:equivalentTo"} xref: Orphanet:269 {source="MONDO:equivalentTo"} xref: SCTID:399091004 {source="DOID:11727", source="MONDO:equivalentTo"} is_a: MONDO:0016106 {source="Orphanet:269"} ! progressive muscular dystrophy is_a: MONDO:0100137 {source="PMID:29804726"} ! telomere syndrome property_value: closeMatch http://identifiers.org/meddra/10064087 property_value: exactMatch DOID:11727 property_value: exactMatch http://identifiers.org/mesh/D020391 property_value: exactMatch http://identifiers.org/snomedct/399091004 property_value: exactMatch https://omim.org/phenotypicSeries/PS158900 property_value: exactMatch NCIT:C84704 property_value: exactMatch Orphanet:269 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5658 xsd:anyURI [Term] id: MONDO:0001357 name: hypochromic anemia def: "Anemia caused by the reduction of hemoglobin in relation to the red cell volume. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency." [NCIT:C34380] synonym: "anaemia hypochromic" EXACT OMO:0003005 [] synonym: "anemia hypochromic" EXACT [DOID:11759, MTH:NOCODE] synonym: "hypochromic anaemia (disease)" EXACT OMO:0003005 [] synonym: "hypochromic anemia" EXACT [MONDO:ambiguous, NCIT:C34380] synonym: "hypochromic anemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:11759 {source="MONDO:equivalentTo"} xref: HP:0001931 {source="MONDO:otherHierarchy"} xref: NCIT:C34380 {source="MONDO:equivalentTo", source="DOID:11759"} xref: SCTID:44452003 {source="MONDO:equivalentTo", source="DOID:11759"} xref: UMLS:C0002884 {source="NCIT:C34380", source="MONDO:equivalentTo", source="DOID:11759"} is_a: MONDO:0002280 {source="DOID:11759", source="NCIT:C34380"} ! anemia property_value: exactMatch DOID:11759 property_value: exactMatch http://identifiers.org/snomedct/44452003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002884 property_value: exactMatch NCIT:C34380 property_value: IAO:0000589 "hypochromic anemia (disease)" xsd:string [Term] id: MONDO:0001369 name: chronic laryngitis def: "Persistent laryngitis usually caused by smoking, heavy alcohol consumption, voice abuse, or gastroesophageal reflux disease. It results in hoarseness and other voice changes." [NCIT:P378] synonym: "laryngitis, chronic" EXACT [MONDO:patterns/chronic] xref: DOID:11797 {source="MONDO:equivalentTo"} xref: ICD10CM:J37.0 {source="DOID:11797", source="MONDO:equivalentTo"} xref: ICD9:476.0 {source="DOID:11797", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C26975 {source="DOID:11797", source="MONDO:equivalentTo"} xref: SCTID:29951006 {source="DOID:11797", source="MONDO:equivalentTo"} xref: UMLS:C0155836 {source="DOID:11797", source="MONDO:equivalentTo", source="NCIT:C26975"} is_a: MONDO:0002647 {source="DOID:11797", source="MONDO:Redundant", source="NCIT:C26975"} ! laryngitis property_value: exactMatch DOID:11797 property_value: exactMatch http://identifiers.org/snomedct/29951006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155836 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/J37.0 property_value: exactMatch NCIT:C26975 [Term] id: MONDO:0001370 name: pericardial effusion def: "Fluid collection within the pericardial sac, usually due to inflammation." [NCIT:P378] synonym: "fluid, pericardial" EXACT [NCIT:C3319] synonym: "pericardial effusion" EXACT [MONDO:ambiguous] synonym: "pericardial effusion (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "pericardial fluid" EXACT [NCIT:C3319] xref: DOID:118 {source="MONDO:equivalentTo"} xref: HP:0001698 {source="MONDO:otherHierarchy"} xref: MESH:D010490 {source="https://orcid.org/0000-0003-1967-3726", source="DOID:118", source="MONDO:equivalentTo"} xref: NCIT:C3319 {source="DOID:118", source="MONDO:equivalentTo", source="MONDO:otherHierarchy"} xref: SCTID:373945007 {source="DOID:118", source="MONDO:equivalentTo"} xref: UMLS:C0031039 {source="DOID:118", source="MONDO:equivalentTo"} is_a: MONDO:0000474 {source="DOID:118"} ! pericardium disorder property_value: exactMatch DOID:118 property_value: exactMatch http://identifiers.org/mesh/D010490 property_value: exactMatch http://identifiers.org/snomedct/373945007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031039 property_value: exactMatch NCIT:C3319 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000589 "pericardial effusion (disease)" xsd:string [Term] id: MONDO:0001374 name: bladder sarcoma def: "A malignant mesenchymal cell neoplasm that affects the urinary bladder." [NCIT:C4669] synonym: "bladder sarcoma" EXACT [NCIT:C4669] synonym: "sarcoma of bladder" EXACT [NCIT:C4669] synonym: "sarcoma of the bladder" EXACT [NCIT:C4669] synonym: "sarcoma of the urinary bladder" EXACT [DOID:11812, NCIT:C4669] synonym: "sarcoma of urinary bladder" EXACT [MONDO:patterns/sarcoma, NCIT:C4669] synonym: "urinary bladder sarcoma" EXACT [MONDO:patterns/location, NCIT:C4669] xref: DOID:11812 {source="MONDO:equivalentTo"} xref: NCIT:C4669 {source="DOID:11812", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:278046008 {source="DOID:11812", source="MONDO:equivalentTo"} xref: UMLS:C0349666 {source="DOID:11812", source="MONDO:equivalentTo", source="NCIT:C4669"} is_a: EFO:1001968 {source="NCIT:C4669"} ! soft tissue sarcoma is_a: MONDO:0001187 {source="DOID:11812", source="MONDO:Redundant", source="NCIT:C4669"} ! urinary bladder cancer property_value: exactMatch DOID:11812 property_value: exactMatch http://identifiers.org/snomedct/278046008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349666 property_value: exactMatch NCIT:C4669 [Term] id: MONDO:0001377 name: vitreous syneresis comment: Editor note: TODO consider cede to HPO synonym: "vitreous degeneration" EXACT [DOID:11816, ICD9CM:379.21] xref: DOID:11816 {source="MONDO:equivalentTo"} xref: ICD9:379.21 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11816"} xref: SCTID:60189009 {source="MONDO:equivalentTo", source="DOID:11816"} xref: UMLS:C0155366 {source="MONDO:equivalentTo", source="DOID:11816"} is_a: MONDO:0004860 {source="DOID:11816"} ! vitreous disorder is_a: MONDO:0004884 {source="DOID:11816"} ! eye degenerative disorder property_value: exactMatch DOID:11816 property_value: exactMatch http://identifiers.org/snomedct/60189009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155366 [Term] id: MONDO:0001378 name: urachus cancer def: "A malignant neoplasm involving the urachus." [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of urachus" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of urachus" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of urachus" EXACT [DOID:11817] synonym: "malignant tumour of urachus" EXACT OMO:0003005 [] synonym: "malignant urachus neoplasm" EXACT [MONDO:patterns/cancer] synonym: "urachus cancer" EXACT [MONDO:patterns/location] xref: DOID:11817 {source="MONDO:equivalentTo"} xref: ICD9:188.7 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11817"} xref: SCTID:363456000 {source="MONDO:equivalentTo", source="DOID:11817"} xref: UMLS:C0153615 {source="MONDO:equivalentTo", source="DOID:11817"} is_a: MONDO:0001187 {source="DOID:11817", source="MONDO:Redundant"} ! urinary bladder cancer property_value: exactMatch DOID:11817 property_value: exactMatch http://identifiers.org/snomedct/363456000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153615 [Term] id: MONDO:0001382 name: hepatorenal syndrome def: "Hepatorenal syndrome is a form of impaired kidney function that occurs in individuals with advanced chronic liver disease. As many as 40% of individuals with cirrhosis and ascites will develop hepatorenal syndrome. Symptoms may include fatigue, abdominal pain, and a general feeling of ill health (malaise). There are two distinct types of hepatorenal syndrome. Type I progresses quickly (within days), leading to kidney failure. Individuals with type I typically have dramatically reduced urine output, edema, and jaundice, and often suffer from hepatic encephalopathy. Type II progresses more slowly, over weeks or months, and the symptoms are less severe. The cause of hepatorenal syndrome is unknown. A contributing factor seems to be a narrowing of the blood vessels that connect into the kidneys. This causes a decrease in blood flow to the kidneys, impairing their function. In some cases, triggers or precipitating factors (infections, blood loss from the gastrointestinal tract, low blood pressure) are involved. Treatment is aimed at helping the liver work better and maintaining kidney function. In many cases, a liver transplant is needed. In some cases, individuals also need a kidney transplant." [https://rarediseases.info.nih.gov/diseases/6610/hepatorenal-syndrome] subset: gard_rare {source="GARD:0006610"} synonym: "hepato-renal syndrome" RELATED [GARD:0006610] xref: DOID:11823 {source="MONDO:equivalentTo"} xref: ICD10CM:K76.7 {source="DOID:11823", source="MONDO:equivalentTo"} xref: ICD9:572.4 {source="DOID:11823", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D006530 {source="DOID:11823", source="MONDO:equivalentTo"} xref: NCIT:C113400 {source="DOID:11823", source="MONDO:equivalentTo"} xref: SCTID:51292008 {source="DOID:11823", source="MONDO:equivalentTo"} xref: UMLS:C0019212 {source="DOID:11823", source="MONDO:equivalentTo", source="NCIT:C113400"} is_a: EFO:0001421 {source="DOID:11823", source="MESH:D006530"} ! liver disease is_a: MONDO:0002254 {source="NCIT:C113400"} ! syndromic disease relationship: disease_has_feature EFO:1002048 ! kidney failure property_value: exactMatch DOID:11823 property_value: exactMatch http://identifiers.org/mesh/D006530 property_value: exactMatch http://identifiers.org/snomedct/51292008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019212 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K76.7 property_value: exactMatch NCIT:C113400 property_value: excluded_subClassOf MONDO:0002492 {source="DOID:11823"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6610/hepatorenal-syndrome xsd:anyURI {source="GARD:0006610"} [Term] id: MONDO:0001384 name: myopia is_a: MONDO:0004892 ! refractive error property_value: exactMatch DOID:11830 property_value: exactMatch http://identifiers.org/mesh/D009216 property_value: exactMatch http://identifiers.org/snomedct/57190000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027092 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H52.1 property_value: exactMatch https://omim.org/phenotypicSeries/PS160700 property_value: IAO:0000589 "myopia (disease)" xsd:string [Term] id: MONDO:0001402 name: vaginal cancer def: "A primary or metastatic malignant neoplasm involving the vagina. Representative examples include carcinomas and sarcomas." [NCIT:C7410] subset: gard_rare {source="GARD:0009348"} synonym: "cancer of vagina" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the vagina" EXACT [NCIT:C7410] synonym: "malignant neoplasm of vagina" EXACT [DOID:119, ICD9CM:184.0, MONDO:patterns/cancer, NCIT:C7410] synonym: "malignant tumor of the vagina" EXACT [NCIT:C7410] synonym: "malignant tumor of vagina" EXACT [NCIT:C7410] synonym: "malignant tumour of the vagina" EXACT OMO:0003005 [] synonym: "malignant tumour of vagina" EXACT OMO:0003005 [] synonym: "malignant vagina neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7410] synonym: "malignant vagina tumor" EXACT [NCIT:C7410] synonym: "malignant vagina tumour" EXACT OMO:0003005 [] synonym: "malignant vaginal neoplasm" EXACT [NCIT:C7410] synonym: "malignant vaginal tumor" EXACT [DOID:119, NCIT:C7410] synonym: "malignant vaginal tumour" EXACT OMO:0003005 [] synonym: "vagina cancer" EXACT [MONDO:patterns/location] synonym: "vagina neoplasm" BROAD [DOID:119] synonym: "vaginal tumor" BROAD [DOID:119, NCIT:C3437] synonym: "vaginal tumour" BROAD OMO:0003005 [] xref: DOID:119 {source="MONDO:equivalentTo"} xref: ICD9:184.0 {source="DOID:119", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D014625 {source="DOID:119", source="MONDO:equivalentTo"} xref: NCIT:C7410 {source="DOID:119", source="MONDO:equivalentTo"} xref: SCTID:363445000 {source="DOID:119", source="MONDO:equivalentTo"} is_a: EFO:1001331 {source="DOID:119", source="MONDO:Redundant", source="NCIT:C7410"} ! Genital neoplasm, female is_a: EFO:1001447 {source="MONDO:Redundant", source="NCIT:C7410"} ! Vaginal neoplasm property_value: exactMatch DOID:119 property_value: exactMatch http://identifiers.org/mesh/D014625 property_value: exactMatch http://identifiers.org/snomedct/363445000 property_value: exactMatch NCIT:C7410 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9348/vaginal-cancer xsd:anyURI {source="GARD:0009348"} [Term] id: MONDO:0001407 name: tracheal cancer def: "A malignant neoplasm involving the trachea" [https://orcid.org/0000-0002-6601-2165] synonym: "Ca trachea" EXACT [DOID:11920] synonym: "cancer of trachea" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the trachea" EXACT [NCIT:C9346] synonym: "malignant neoplasm of trachea" EXACT [DOID:11920, MONDO:patterns/cancer, MTH:NOCODE, NCIT:C9346] synonym: "malignant trachea neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9346] synonym: "malignant trachea tumor" EXACT [NCIT:C9346] synonym: "malignant trachea tumour" EXACT OMO:0003005 [] synonym: "malignant tracheal neoplasm" EXACT [NCIT:C9346] synonym: "malignant tracheal tumor" EXACT [DOID:11920, NCIT:C9346] synonym: "malignant tracheal tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of the trachea" EXACT [NCIT:C9346] synonym: "malignant tumor of trachea" EXACT [NCIT:C9346] synonym: "malignant tumour of the trachea" EXACT OMO:0003005 [] synonym: "malignant tumour of trachea" EXACT OMO:0003005 [] synonym: "trachea cancer" EXACT [MONDO:patterns/location] synonym: "tracheal neoplasm" BROAD [DOID:11920] xref: DOID:11920 {source="MONDO:equivalentTo"} xref: ICD10CM:C33 {source="DOID:11920", source="MONDO:equivalentTo"} xref: ICD9:162.0 {source="DOID:11920", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C9346 {source="DOID:11920", source="MONDO:equivalentTo"} xref: SCTID:363432004 {source="DOID:11920", source="MONDO:equivalentTo"} xref: UMLS:C0153489 {source="DOID:11920", source="NCIT:C9346", source="MONDO:equivalentTo"} is_a: EFO:1001437 {source="MONDO:Redundant", source="NCIT:C9346"} ! Tracheal neoplasm is_a: MONDO:0000376 {source="DOID:11920", source="MONDO:Redundant"} ! respiratory system cancer property_value: exactMatch DOID:11920 property_value: exactMatch http://identifiers.org/snomedct/363432004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153489 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/C33 property_value: exactMatch NCIT:C9346 [Term] id: MONDO:0001409 name: esophagitis def: "An acute or chronic inflammatory disease affecting the esophageal wall." [MONDO:cjm, NCIT:C9224] synonym: "acute esophagitis" NARROW [DOID:11963] synonym: "esophagitis" EXACT [MONDO:ambiguous] synonym: "esophagitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "esophagus inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "inflammation of esophagus" EXACT [] synonym: "inflammation of oesophagus" EXACT OMO:0003005 [] synonym: "oesophagus inflammation" EXACT OMO:0003005 [] xref: DOID:11963 {source="MONDO:equivalentTo"} xref: HP:0100633 {source="MONDO:otherHierarchy"} xref: ICD9:530.1 {source="DOID:11963"} xref: ICD9:530.10 {source="DOID:11963"} xref: ICD9:530.12 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D004941 {source="DOID:11963", source="MONDO:equivalentTo"} xref: NCIT:C9224 {source="DOID:11963", source="MONDO:equivalentTo"} xref: SCTID:16761005 {source="DOID:11963", source="MONDO:equivalentTo"} xref: UMLS:C0014868 {source="DOID:11963", source="NCIT:C9224", source="MONDO:equivalentTo"} xref: UMLS:C0149882 {source="MONDO:equivalentTo"} is_a: EFO:0009544 {source="DOID:11963", source="MESH:D004941", source="MONDO:Redundant", source="NCIT:C9224/inferred"} ! esophageal disease is_a: EFO:0009903 ! inflammatory disease property_value: exactMatch DOID:11963 property_value: exactMatch http://identifiers.org/mesh/D004941 property_value: exactMatch http://identifiers.org/snomedct/16761005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014868 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149882 property_value: exactMatch NCIT:C9224 property_value: IAO:0000589 "esophagitis (disease)" xsd:string [Term] id: MONDO:0001410 name: postmenopausal atrophic vaginitis def: "Inflammation of the vagina due to thinning of the vaginal wall and decreased lubrication associated with reduced estrogen levels at menopause." [MESH:D059268] synonym: "atrophic vaginitis" EXACT [DOID:11968] synonym: "senile vaginitis" EXACT [DOID:11968] xref: DOID:11968 {source="MONDO:equivalentTo"} xref: EFO:1001271 {source="MONDO:equivalentTo"} xref: ICD10CM:N95.2 {source="MONDO:equivalentTo", source="DOID:11968"} xref: ICD9:627.3 {source="MONDO:equivalentTo", source="DOID:11968", source="MONDO:i2s"} xref: MESH:D059268 {source="MONDO:equivalentTo"} xref: SCTID:52441000 {source="MONDO:equivalentTo", source="DOID:11968"} xref: UMLS:C0156409 {source="MONDO:equivalentTo", source="DOID:11968"} xref: UMLS:C0221392 {source="MONDO:equivalentTo"} is_a: MONDO:0002234 {source="DOID:11968", source="EFO:1001271", source="MESH:D059268"} ! vaginitis property_value: exactMatch DOID:11968 property_value: exactMatch http://identifiers.org/mesh/D059268 property_value: exactMatch http://identifiers.org/snomedct/52441000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156409 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221392 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/N95.2 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0001414 name: osteopoikilosis def: "A rare autosomal dominant inherited disorder characterized by the presence of small areas of increased density throughout the bones." [NCIT:P378] subset: gard_rare synonym: "osteopathia condensans disseminata" RELATED [GARD:0004158] synonym: "osteopoikilosis" EXACT [MONDO:ambiguous] synonym: "osteopoikilosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "spotted bones" RELATED [GARD:0004158] xref: DOID:11991 {source="MONDO:equivalentTo"} xref: HP:0010739 {source="MONDO:otherHierarchy"} xref: ICD9:756.53 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11991"} xref: MESH:D010023 {source="MONDO:equivalentTo", source="DOID:11991"} xref: NCIT:C84985 {source="MONDO:equivalentTo", source="DOID:11991"} xref: SCTID:9147009 {source="MONDO:equivalentTo", source="DOID:11991"} is_a: MONDO:0002933 {source="DOID:11991", source="MESH:D010023"} ! osteosclerosis property_value: exactMatch DOID:11991 property_value: exactMatch http://identifiers.org/mesh/D010023 property_value: exactMatch http://identifiers.org/snomedct/9147009 property_value: exactMatch NCIT:C84985 property_value: IAO:0000589 "osteopoikilosis (disease)" xsd:string [Term] id: MONDO:0001422 name: primary aldosteronism def: "An endocrine disorder characterized by excessive production of aldosterone by the adrenal glands. Causes include adrenal gland adenoma and adrenal gland hyperplasia. The overproduction of aldosterone results in sodium and water retention and hypokalemia. Patients present with high blood pressure, muscle weakness, and headache." [NCIT:C34510] comment: Editor note: DOID class refers to adenoma-caused Conn syndrome synonym: "Conn syndrome" EXACT [DOID:12028, NCIT:C34510] synonym: "Conn's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant, NCIT:C34510] synonym: "primary aldosteronism" EXACT [DOID:12028, ICD9CM:255.10, Wikipedia:Primary_aldosteronism] synonym: "primary hyperaldosteronism" EXACT [DOID:12028, NCIT:C34510] xref: DOID:12028 {source="MONDO:equivalentTo"} xref: ICD10CM:E26.0 {source="DOID:12028", source="MONDO:equivalentTo"} xref: ICD9:255.12 {source="DOID:12028", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D006929 {source="DOID:12028", source="MONDO:relatedTo"} xref: NCIT:C34510 {source="DOID:12028", source="MONDO:equivalentTo"} xref: SCTID:190507007 {source="DOID:12028", source="MONDO:equivalentTo"} is_a: EFO:0005539 ! adrenal gland disease property_value: exactMatch DOID:12028 property_value: exactMatch http://identifiers.org/snomedct/190507007 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E26.0 property_value: exactMatch NCIT:C34510 property_value: excluded_subClassOf MONDO:0003924 {source="DOID:12028"} [Term] id: MONDO:0001423 name: drug-induced mental disorder xref: DOID:1203 {source="MONDO:equivalentTo"} xref: ICD9:292.8 {source="DOID:1203"} xref: ICD9:292.89 {source="DOID:1203"} is_a: EFO:0000677 ! mental or behavioural disorder property_value: exactMatch DOID:1203 property_value: excluded_subClassOf MONDO:0004630 {source="DOID:1203"} [Term] id: MONDO:0001433 name: vaginal disorder def: "A non-neoplastic or neoplastic disorder that affects the vagina. Representative examples include vaginal infection, vaginal polyp, and vaginal squamous cell carcinoma." [NCIT:P378] synonym: "disease of vagina" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of vagina" EXACT [] synonym: "disorder of vagina" EXACT [MONDO:patterns/location_top] synonym: "vagina disease" EXACT [MONDO:patterns/location] synonym: "vagina disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "vaginal disease" EXACT [NCIT:C26910] synonym: "vaginal disorder" EXACT [NCIT:C26910] xref: DOID:121 {source="MONDO:equivalentTo"} xref: MESH:D014623 {source="MONDO:equivalentTo", source="DOID:121"} xref: NCIT:C26910 {source="MONDO:equivalentTo", source="DOID:121"} xref: SCTID:25658005 {source="MONDO:equivalentTo", source="DOID:121"} xref: UMLS:C0042251 {source="MONDO:equivalentTo", source="DOID:121", source="NCIT:C26910"} is_a: EFO:0009549 {source="DOID:121", source="MESH:D014623", source="MONDO:Redundant", source="NCIT:C26910"} ! female reproductive system disease property_value: exactMatch DOID:121 property_value: exactMatch http://identifiers.org/mesh/D014623 property_value: exactMatch http://identifiers.org/snomedct/25658005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042251 property_value: exactMatch NCIT:C26910 [Term] id: MONDO:0001434 name: inflammatory spondylopathy synonym: "inflammatory spondylopathies in disease classified elsewhere" NARROW [DOID:12105, ICD9CM:720.81] synonym: "inflammatory spondylopathies in disease EC" EXACT [DOID:12105] synonym: "inflammatory spondylopathy in disease classified elsewhere" NARROW [DOID:12105] xref: DOID:12105 {source="MONDO:equivalentTo"} xref: ICD9:720.81 {source="DOID:12105"} xref: ICD9:720.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:720.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:202649003 {source="MONDO:equivalentTo"} is_a: MONDO:0003937 {source="DOID:12105"} ! spondylitis property_value: exactMatch DOID:12105 property_value: exactMatch http://identifiers.org/snomedct/202649003 [Term] id: MONDO:0001436 name: hemosiderosis def: "Accumulation of iron in internal organs." [NCIT:C82892] subset: gard_rare {source="GARD:0006595"} synonym: "haemosiderosis" EXACT [DOID:12119] xref: DOID:12119 {source="MONDO:equivalentTo"} xref: MESH:D006486 {source="DOID:12119", source="MONDO:equivalentTo"} xref: NCIT:C82892 {source="DOID:12119", source="MONDO:equivalentTo", source="NCIT:C82892"} xref: SCTID:39011001 {source="DOID:12119", source="MONDO:equivalentTo"} xref: UMLS:C0019114 {source="DOID:12119", source="MONDO:equivalentTo", source="NCIT:C82892"} is_a: MONDO:0002279 {source="DOID:12119", source="MESH:D006486/inferred"} ! iron metabolism disease property_value: exactMatch DOID:12119 property_value: exactMatch http://identifiers.org/mesh/D006486 property_value: exactMatch http://identifiers.org/snomedct/39011001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019114 property_value: exactMatch NCIT:C82892 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6595/hemosiderosis xsd:anyURI {source="GARD:0006595"} [Term] id: MONDO:0001437 name: pulmonary alveolar proteinosis def: "A rare lung disorder characterized by the filling of the pulmonary alveoli with proteinaceous material which stains positive with periodic acid-Schiff stain. It may be idiopathic or secondary due to hematologic malignancies or the inhalation of mineral dusts. Signs and symptoms include dyspnea, cough and low grade fever." [NCIT:C85037] synonym: "PAP" BROAD ABBREVIATION [MONDO:cjm] synonym: "pulmonary alveolar proteinosis" EXACT [NCIT:C85037] xref: DOID:12120 {source="MONDO:equivalentTo"} xref: ICD9:516.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12120"} xref: MESH:D011649 {source="MONDO:equivalentTo", source="DOID:12120"} xref: NCIT:C85037 {source="MONDO:equivalentTo", source="DOID:12120"} xref: Reactome:R-HSA-5683826 xref: SCTID:10501004 {source="MONDO:equivalentTo", source="DOID:12120"} xref: UMLS:C0034050 {source="MONDO:equivalentTo", source="DOID:12120", source="NCIT:C85037"} is_a: EFO:0003818 {source="DOID:12120", source="MESH:D011649", source="MONDO:Entailed", source="NCIT:C85037/inferred"} ! lung disease property_value: exactMatch DOID:12120 property_value: exactMatch http://identifiers.org/mesh/D011649 property_value: exactMatch http://identifiers.org/snomedct/10501004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034050 property_value: exactMatch NCIT:C85037 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0001438 name: postinflammatory pulmonary fibrosis synonym: "post-inflammatory pulmonary fibrosis" EXACT [DOID:12123] synonym: "postinflammatory pulmonary fibrosis" EXACT [DOID:12123] xref: DOID:12123 {source="MONDO:equivalentTo"} xref: ICD9:515 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12123"} xref: SCTID:266368002 {source="MONDO:equivalentTo", source="DOID:12123"} xref: UMLS:C0175999 {source="MONDO:equivalentTo", source="DOID:12123"} is_a: EFO:0009448 {source="DOID:12123", source="MONDO:Redundant"} ! pulmonary fibrosis intersection_of: EFO:0009448 ! pulmonary fibrosis intersection_of: disease_arises_from_feature EFO:0009903 ! inflammatory disease relationship: disease_arises_from_feature EFO:0009903 ! inflammatory disease property_value: exactMatch DOID:12123 property_value: exactMatch http://identifiers.org/snomedct/266368002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0175999 [Term] id: MONDO:0001444 name: Chagas disease def: "A parasitic infection caused by Trypanosoma cruzi. It is transmitted by insect bites. It is characterized by an acute and chronic phase; in the acute phase patients may have fever, malaise, and swelling at the site of the insect bite. In the chronic phase patients develop hepatosplenomegaly, lymphadenopathy, cardiomyopathy and arrhythmias." [NCIT:C84629] subset: ordo_disease {source="Orphanet:3386"} synonym: "American trypanosomiasis" RELATED [DOID:12140] synonym: "Chagas disease" EXACT [Orphanet:3386] synonym: "Chagas' disease" EXACT [DOID:12140] synonym: "Chagas' disease with digestive system involvement" EXACT [DOID:12140] synonym: "Chagas' disease with nervous system involvement" EXACT [DOID:12140] synonym: "Chagas' disease with other organ involvement" EXACT [DOID:12140] synonym: "Chagas-mazza disease" RELATED [] synonym: "infection by trypanosoma cruzi" EXACT [] synonym: "infection caused by trypanosoma cruzi" RELATED [] synonym: "south American trypanosomiasis" RELATED [] synonym: "Trypanosoma cruzi caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Trypanosoma cruzi disease or disorder" EXACT [] synonym: "Trypanosoma cruzi infectious disease" EXACT [] xref: DOID:12140 {source="MONDO:equivalentTo"} xref: EFO:0008559 {source="MONDO:equivalentTo"} xref: ICD10CM:B57 {source="MONDO:equivalentTo"} xref: ICD9:086.2 {source="DOID:12140"} xref: MedDRA:10001935 {source="Orphanet:3386", source="Orphanet:3386/e"} xref: MESH:D014355 {source="MONDO:equivalentTo"} xref: NCIT:C84629 {source="MONDO:equivalentTo"} xref: Orphanet:3386 {source="MONDO:equivalentTo"} xref: SCTID:77506005 {source="MONDO:equivalentTo"} xref: UMLS:C0041234 {source="Orphanet:3386", source="MONDO:equivalentTo", source="NCIT:C84629", source="Orphanet:3386/e"} xref: UMLS:C0153125 {source="MONDO:equivalentTo"} xref: UMLS:C0348781 {source="MONDO:equivalentTo"} xref: UMLS:C0348782 {source="MONDO:equivalentTo"} is_a: DOID:10113 {source="DOID:12140", source="EFO:0008559", source="MESH:D014355", source="MONDO:Redundant"} ! trypanosomiasis is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare property_value: closeMatch http://identifiers.org/meddra/10001935 property_value: exactMatch DOID:12140 property_value: exactMatch http://identifiers.org/mesh/D014355 property_value: exactMatch http://identifiers.org/snomedct/77506005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041234 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153125 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0348781 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0348782 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B57 property_value: exactMatch NCIT:C84629 property_value: exactMatch Orphanet:3386 [Term] id: MONDO:0001458 name: ulnar nerve lesion def: "A peripheral nerve lesion that involves the ulnar nerve." [MONDO:patterns/location] comment: Editor note: todo DP for lesions synonym: "lesion of ulnar nerve" EXACT [DOID:12168, ICD9CM:354.2] synonym: "peripheral nerve lesion of ulnar nerve" EXACT [MONDO:design_pattern] synonym: "ulnar nerve peripheral nerve lesion" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:12168 {source="MONDO:equivalentTo"} xref: ICD9:354.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12168"} xref: SCTID:367475009 {source="MONDO:equivalentTo", source="DOID:12168"} xref: UMLS:C1288279 {source="MONDO:equivalentTo", source="DOID:12168"} is_a: EFO:1001224 {source="MONDO:cjm"} ! ulnar neuropathy is_a: MONDO:0024334 ! peripheral nerve lesion property_value: exactMatch DOID:12168 property_value: exactMatch http://identifiers.org/snomedct/367475009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1288279 property_value: excluded_subClassOf MONDO:0003607 {source="DOID:12168"} property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0001459 name: radial neuropathy def: "Disease involving the radial nerve. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the axilla and radial groove of the humerus." [MESH:D020425] synonym: "peripheral neuropathy of radial nerve" EXACT [MONDO:design_pattern] synonym: "radial nerve peripheral neuropathy" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:12171 {source="MONDO:equivalentTo"} xref: MESH:D020425 {source="DOID:12171", source="MONDO:equivalentTo"} xref: SCTID:16644004 {source="DOID:12171", source="MONDO:equivalentTo"} xref: UMLS:C0748226 {source="DOID:12171", source="MONDO:equivalentTo"} is_a: EFO:0009558 {source="DOID:12171", source="MESH:D020425"} ! mononeuropathy is_a: EFO:1000844 ! brachial plexus neuropathy property_value: exactMatch DOID:12171 property_value: exactMatch http://identifiers.org/mesh/D020425 property_value: exactMatch http://identifiers.org/snomedct/16644004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0748226 [Term] id: MONDO:0001475 name: neutropenia def: "A decrease in the number of neutrophils found in the blood." [MESH:D009503] synonym: "neutropenia" EXACT [] synonym: "neutropenic disorder" EXACT [] xref: DOID:1227 {source="MONDO:equivalentTo"} xref: HP:0001875 {source="MONDO:otherHierarchy"} xref: ICD9:288.0 {source="DOID:1227"} xref: ICD9:288.00 {source="DOID:1227"} xref: MESH:D009503 {source="MONDO:equivalentTo", source="DOID:1227"} xref: SCTID:303011007 {source="MONDO:equivalentTo", source="DOID:1227"} xref: UMLS:C0027947 {source="MONDO:equivalentTo", source="DOID:1227"} is_a: MONDO:0004805 ! leukocyte disorder property_value: exactMatch DOID:1227 property_value: exactMatch http://identifiers.org/mesh/D009503 property_value: exactMatch http://identifiers.org/snomedct/303011007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027947 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0001476 name: coloboma def: "An abnormality in which a part of a structure in one or both eyes is missing." [NCIT:P378] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:194"} synonym: "coloboma of eye" EXACT [DOID:12270] synonym: "coloboma of macula" NARROW [DOID:12270] synonym: "coloboma of the eye" EXACT [NCIT:C98877] synonym: "congenital ocular coloboma" NARROW [DOID:12270] synonym: "ocular coloboma" EXACT [Orphanet:194] xref: DOID:12270 {source="MONDO:equivalentTo"} xref: ICD9:743.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D003103 {source="DOID:12270", source="MONDO:equivalentTo"} xref: NCIT:C98877 {source="DOID:12270", source="MONDO:equivalentTo"} xref: Orphanet:194 {source="MONDO:equivalentObsolete"} xref: SCTID:93390002 {source="DOID:12270", source="MONDO:equivalentTo"} is_a: EFO:0003966 {source="DOID:12270", source="MESH:D003103/inferred", source="NCIT:C98877/inferred"} ! eye disease property_value: exactMatch DOID:12270 property_value: exactMatch http://identifiers.org/mesh/D003103 property_value: exactMatch http://identifiers.org/snomedct/93390002 property_value: exactMatch NCIT:C98877 property_value: excluded_subClassOf MONDO:0015217 {source="Orphanet:194"} [Term] id: MONDO:0001487 name: intrahepatic bile duct cancer def: "A cancer that involves the intrahepatic bile duct." [MONDO:patterns/location] synonym: "Ca intrahepatic bile ducts" EXACT [DOID:12298] synonym: "cancer of intrahepatic bile duct" EXACT [MONDO:patterns/cancer] synonym: "malignant intrahepatic bile duct neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of intrahepatic bile duct" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of intrahepatic bile ducts" EXACT [DOID:12298, ICD9CM:155.1] synonym: "malignant neoplasm of intrahepatic biliary passages" EXACT [DOID:12298] xref: DOID:12298 {source="MONDO:equivalentTo"} xref: ICD9:155.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12298"} xref: SCTID:187777008 {source="MONDO:equivalentTo", source="DOID:12298"} xref: UMLS:C0546835 {source="MONDO:equivalentTo", source="DOID:12298"} is_a: MONDO:0003059 ! bile duct cancer property_value: exactMatch DOID:12298 property_value: exactMatch http://identifiers.org/snomedct/187777008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0546835 property_value: excluded_subClassOf MONDO:0005411 {source="DOID:12298"} [Term] id: MONDO:0001493 name: chronic pulmonary heart disease def: "Heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure." [NCIT:C34478] synonym: "Cor pulmonale" BROAD [NCIT:C34478] xref: DOID:12326 {source="MONDO:equivalentTo"} xref: ICD9:416.8 {source="DOID:12326", source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:416.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C34478 {source="MONDO:equivalentTo"} xref: SCTID:87837008 {source="MONDO:equivalentTo"} xref: UMLS:C0238074 {source="MONDO:equivalentTo", source="NCIT:C34478"} is_a: MONDO:0004596 {source="DOID:12326"} ! cor pulmonale property_value: exactMatch DOID:12326 property_value: exactMatch http://identifiers.org/snomedct/87837008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238074 property_value: exactMatch NCIT:C34478 [Term] id: MONDO:0001498 name: varicocele def: "A condition characterized by the dilated tortuous veins of the spermatic cord with a marked left-sided predominance. Adverse effect on male fertility occurs when varicocele leads to an increased scrotal (and testicular) temperature and reduced testicular volume." [MESH:D014646] synonym: "scrotal varices" EXACT [DOID:12337, ICD9CM:456.4] synonym: "scrotum varicose disease" EXACT [MONDO:patterns/location] synonym: "varicose disease of scrotum" EXACT [MONDO:design_pattern] xref: DOID:12337 {source="MONDO:equivalentTo"} xref: ICD10CM:I86.1 {source="DOID:12337", source="MONDO:equivalentTo"} xref: ICD9:456.4 {source="DOID:12337", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D014646 {source="DOID:12337", source="MONDO:equivalentTo"} xref: SCTID:46871008 {source="DOID:12337", source="MONDO:equivalentTo"} xref: UMLS:C0042341 {source="DOID:12337", source="MONDO:equivalentTo"} is_a: MONDO:0004869 {source="DOID:12337"} ! pelvic varices is_a: MONDO:0045003 ! scrotal disorder property_value: exactMatch DOID:12337 property_value: exactMatch http://identifiers.org/mesh/D014646 property_value: exactMatch http://identifiers.org/snomedct/46871008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042341 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/I86.1 [Term] id: MONDO:0001502 name: retroperitoneum carcinoma def: "A carcinoma that arises from epithelial cells of the retroperitoneal space." [https://orcid.org/0000-0002-6601-2165] synonym: "carcinoma of retroperitoneal space" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of retroperitoneum" EXACT [DOID:12342, NCIT:C7352] synonym: "carcinoma of the retroperitoneum" EXACT [DOID:12342, NCIT:C7352] synonym: "retroperitoneal cancer" BROAD [NCIT:C7352] synonym: "retroperitoneal carcinoma" EXACT [NCIT:C7352] synonym: "retroperitoneal space carcinoma" EXACT [MONDO:patterns/location] xref: DOID:12342 {source="MONDO:equivalentTo"} xref: NCIT:C7352 {source="MONDO:equivalentTo", source="DOID:12342"} xref: UMLS:C0948749 {source="NCIT:C7352", source="MONDO:equivalentTo", source="DOID:12342"} is_a: EFO:0000313 {source="DOID:12342", source="MONDO:Redundant", source="NCIT:C7352"} ! carcinoma is_a: EFO:0007466 {source="DOID:12342", source="MONDO:Redundant", source="NCIT:C7352"} ! retroperitoneal cancer property_value: exactMatch DOID:12342 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0948749 property_value: exactMatch NCIT:C7352 [Term] id: MONDO:0001515 name: corneal degeneration xref: DOID:1237 {source="MONDO:equivalentTo"} xref: ICD10CM:H18.4 {source="MONDO:equivalentTo", source="DOID:1237"} xref: ICD9:371.4 {source="DOID:1237"} xref: ICD9:371.40 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1237"} xref: ICD9:371.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:111521006 {source="MONDO:equivalentTo", source="DOID:1237"} xref: UMLS:C0155118 {source="MONDO:equivalentTo", source="DOID:1237"} is_a: EFO:0009464 {source="DOID:1237"} ! corneal disease property_value: exactMatch DOID:1237 property_value: exactMatch http://identifiers.org/snomedct/111521006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155118 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H18.4 [Term] id: MONDO:0001519 name: entropion def: "The turning inward (inversion) of the edge of the eyelid, with the tarsal cartilage turned inward toward the eyeball. (Dorland, 27th ed)" [MESH:D004774] synonym: "entropion" EXACT [MONDO:ambiguous] synonym: "entropion (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:12397 {source="MONDO:equivalentTo"} xref: HP:0000621 {source="MONDO:otherHierarchy"} xref: ICD9:374.00 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12397"} xref: MESH:D004774 {source="MONDO:equivalentTo", source="DOID:12397"} xref: SCTID:33168009 {source="MONDO:equivalentTo", source="DOID:12397"} xref: UMLS:C0014390 {source="MONDO:equivalentTo", source="DOID:12397"} is_a: EFO:0009547 {source="DOID:12397", source="MESH:D004774"} ! eyelid disease property_value: exactMatch DOID:12397 property_value: exactMatch http://identifiers.org/mesh/D004774 property_value: exactMatch http://identifiers.org/snomedct/33168009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014390 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000589 "entropion (disease)" xsd:string [Term] id: MONDO:0001528 name: vulva cancer def: "A primary or metastatic malignant neoplasm involving the vulva." [NCIT:C7502] synonym: "Ca vulva" EXACT [DOID:1245] synonym: "cancer of mammalian vulva" EXACT [MONDO:patterns/cancer] synonym: "malignant mammalian vulva neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of mammalian vulva" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the vulva" EXACT [NCIT:C7502] synonym: "malignant neoplasm of vulva" EXACT [NCIT:C7502] synonym: "malignant neoplasm of vulva unspecified" EXACT [DOID:1245] synonym: "malignant neoplasm of vulva, unspecified" EXACT [DOID:1245, ICD9CM:184.4] synonym: "malignant tumor of the vulva" EXACT [NCIT:C7502] synonym: "malignant tumor of vulva" EXACT [NCIT:C7502] synonym: "malignant tumour of the vulva" EXACT OMO:0003005 [] synonym: "malignant tumour of vulva" EXACT OMO:0003005 [] synonym: "malignant vulva neoplasm" EXACT [NCIT:C7502] synonym: "malignant vulva tumor" EXACT [NCIT:C7502] synonym: "malignant vulva tumour" EXACT OMO:0003005 [] synonym: "malignant vulvar neoplasm" EXACT [NCIT:C7502] synonym: "malignant vulvar tumor" EXACT [DOID:1245, NCIT:C7502] synonym: "malignant vulvar tumour" EXACT OMO:0003005 [] synonym: "mammalian vulva cancer" EXACT [MONDO:patterns/location] synonym: "neoplasm of vulva" BROAD [DOID:1245] synonym: "vulval cancer" EXACT [DOID:1245] synonym: "vulval neoplasm" BROAD [DOID:1245] synonym: "vulvar cancer" EXACT [MONDO:patterns/location] synonym: "vulvar tumour" BROAD OMO:0003005 [] xref: DOID:1245 {source="MONDO:equivalentTo"} xref: ICD9:184.4 {source="DOID:1245", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D014846 {source="DOID:1245", source="MONDO:equivalentTo"} xref: NCIT:C7502 {source="DOID:1245", source="MONDO:equivalentTo"} xref: SCTID:363367000 {source="DOID:1245", source="MONDO:equivalentTo"} is_a: EFO:1001331 {source="DOID:1245", source="MONDO:Redundant", source="NCIT:C7502"} ! Genital neoplasm, female is_a: MONDO:0021049 {source="MONDO:Redundant", source="NCIT:C7502"} ! vulvar neoplasm property_value: exactMatch DOID:1245 property_value: exactMatch http://identifiers.org/mesh/D014846 property_value: exactMatch http://identifiers.org/snomedct/363367000 property_value: exactMatch NCIT:C7502 [Term] id: MONDO:0001530 name: secondary hyperparathyroidism of renal origin synonym: "hyperparathyroidism due to renal insufficiency" EXACT [DOID:12465] synonym: "secondary hyperparathyroidism (of renal origin)" EXACT [DOID:12465, ICD9CM:588.81] xref: DOID:12465 {source="MONDO:equivalentTo"} xref: ICD10CM:N25.81 {source="MONDO:equivalentTo", source="DOID:12465"} xref: ICD9:588.81 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12465"} xref: SCTID:19034001 {source="MONDO:equivalentTo", source="DOID:12465"} xref: UMLS:C0271847 {source="MONDO:equivalentTo", source="DOID:12465"} is_a: EFO:1001173 {source="DOID:12465", source="MONDO:Redundant"} ! secondary hyperparathyroidism is_a: MONDO:0001343 {source="DOID:12465", source="ICD10CM:N25.81", source="ICD10CM:N25.81/inferred", source="MONDO:Entailed", source="MONDO:Redundant"} ! impaired renal function disease disjoint_from: MONDO:0001750 ! non-renal secondary hyperparathyroidism property_value: exactMatch DOID:12465 property_value: exactMatch http://identifiers.org/snomedct/19034001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271847 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/N25.81 [Term] id: MONDO:0001539 name: retinal perforation def: "A usually small tearing of the retina occurring when the vitreous separates from the retina. It may lead to retinal detachment. Symptoms include flashes and floaters." [NCIT:P378] synonym: "retinal break" EXACT [DOID:12514] synonym: "retinal dialysis" EXACT [DOID:12514] synonym: "retinal tear" EXACT [DOID:12514] xref: DOID:12514 {source="MONDO:equivalentTo"} xref: MESH:D012167 {source="DOID:12514", source="MONDO:equivalentTo"} xref: SCTID:232003005 {source="DOID:12514", source="MONDO:equivalentTo"} xref: UMLS:C0035321 {source="DOID:12514", source="MONDO:equivalentTo"} is_a: EFO:0005773 {source="DOID:12514"} ! retinal detachment property_value: exactMatch DOID:12514 property_value: exactMatch http://identifiers.org/mesh/D012167 property_value: exactMatch http://identifiers.org/snomedct/232003005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035321 [Term] id: MONDO:0001543 name: lesion of sciatic nerve def: "A peripheral nerve lesion that involves the sciatic nerve." [MONDO:patterns/location] synonym: "peripheral nerve lesion of sciatic nerve" EXACT [MONDO:design_pattern] synonym: "sciatic nerve peripheral nerve lesion" EXACT [MONDO:patterns/location] xref: DOID:12528 {source="MONDO:equivalentTo"} xref: ICD10CM:G57.0 {source="DOID:12528", source="MONDO:equivalentTo"} xref: ICD9:355.0 {source="DOID:12528", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:367137004 {source="DOID:12528", source="MONDO:equivalentTo"} xref: UMLS:C0154748 {source="DOID:12528", source="MONDO:equivalentTo"} is_a: EFO:1001166 ! sciatic neuropathy is_a: MONDO:0001829 ! lumbosacral plexus lesion is_a: MONDO:0024334 ! peripheral nerve lesion property_value: exactMatch DOID:12528 property_value: exactMatch http://identifiers.org/snomedct/367137004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154748 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G57.0 property_value: excluded_subClassOf MONDO:0004797 {source="DOID:12528"} [Term] id: MONDO:0001549 name: hemolytic-uremic syndrome def: "Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia." [NCIT:P378] subset: disease_grouping subset: ordo_group_of_disorders synonym: "acute renal failure, thrombocytopenia, and microangiopathic hemolytic anaemia associated with distorted erythrocytes ('burr cells')" RELATED OMO:0003005 [] synonym: "acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells')" RELATED [GARD:0006588] synonym: "haemolytic-uraemic syndrome" EXACT [DOID:12554] synonym: "hemolytic uremic syndrome" EXACT [DOID:12554] synonym: "HUS" EXACT ABBREVIATION [NCIT:C75545] xref: DOID:12554 {source="MONDO:equivalentTo"} xref: ICD10CM:D59.3 {source="MONDO:equivalentTo", source="DOID:12554"} xref: ICD9:283.11 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12554"} xref: MESH:D006463 {source="MONDO:equivalentTo", source="DOID:12554"} xref: NCIT:C75545 {source="MONDO:equivalentTo", source="DOID:12554"} xref: Orphanet:544458 {source="MONDO:equivalentTo"} xref: Orphanet:576742 {source="MONDO:mondoIsBroaderThanSource"} xref: SCTID:111407006 {source="MONDO:equivalentTo", source="DOID:12554"} xref: UMLS:C0019061 {source="MONDO:equivalentTo", source="DOID:12554", source="NCIT:C75545"} is_a: EFO:0009314 {source="NCIT:C75545"} ! blood coagulation disease property_value: exactMatch DOID:12554 property_value: exactMatch http://identifiers.org/mesh/D006463 property_value: exactMatch http://identifiers.org/snomedct/111407006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019061 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D59.3 property_value: exactMatch NCIT:C75545 property_value: exactMatch Orphanet:544458 property_value: excluded_subClassOf MONDO:0015910 {source="Orphanet:544458"} property_value: excluded_subClassOf MONDO:0019737 {source="Orphanet:544458"} [Term] id: MONDO:0001551 name: ulceration of vulva synonym: "ulceration of vulva" EXACT [] synonym: "vulvar ulceration" RELATED [] xref: DOID:12566 {source="MONDO:equivalentTo"} xref: ICD10CM:N76.6 {source="MONDO:equivalentTo"} xref: ICD9:616.50 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:616.51 {source="DOID:12566"} xref: SCTID:68640004 {source="MONDO:equivalentTo"} xref: UMLS:C0156339 {source="MONDO:equivalentTo"} is_a: MONDO:0002187 {source="DOID:12566"} ! vulvar disease property_value: exactMatch DOID:12566 property_value: exactMatch http://identifiers.org/snomedct/68640004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156339 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/N76.6 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0001554 name: phacogenic glaucoma def: "Secondary glaucoma caused by either excessive size or spheric shape of the lens." [https://medical-dictionary.thefreedictionary.com/phacogenic+glaucoma] synonym: "lens induced angle closure glaucoma" RELATED [] synonym: "lens swelling glaucoma" RELATED [] synonym: "phacomorphic glaucoma" EXACT [https://medical-dictionary.thefreedictionary.com/phacogenic+glaucoma] xref: DOID:12571 {source="MONDO:equivalentTo"} xref: ICD9:365.59 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:12571"} xref: SCTID:392300000 {source="MONDO:equivalentTo"} xref: UMLS:C0339590 {source="MONDO:equivalentTo"} is_a: MONDO:0005041 {source="DOID:12571"} ! glaucoma property_value: exactMatch DOID:12571 property_value: exactMatch http://identifiers.org/snomedct/392300000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339590 [Term] id: MONDO:0001557 name: olecranon bursitis def: "A bursitis that involves the olecranon." [MONDO:patterns/location] synonym: "bursitis of elbow" EXACT [DOID:12581] synonym: "bursitis of elbow region" EXACT [DOID:12581] synonym: "bursitis of olecranon" EXACT [MONDO:design_pattern] synonym: "capped elbow" EXACT [DOID:12581] synonym: "elbow bursitis" EXACT [DOID:12581] synonym: "elbow bursitis (& olecranon)" EXACT [DOID:12581] synonym: "miner's elbow" EXACT [DOID:12581] synonym: "Miners' elbow" EXACT [DOID:12581] synonym: "olecranon bursitis" EXACT [MONDO:patterns/location] synonym: "shoe boil" EXACT [DOID:12581] xref: DOID:12581 {source="MONDO:equivalentTo"} xref: ICD10CM:M70.2 {source="MONDO:equivalentTo", source="DOID:12581"} xref: ICD9:726.33 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12581"} xref: SCTID:425940002 {source="MONDO:equivalentTo", source="DOID:12581"} xref: UMLS:C0263962 {source="MONDO:equivalentTo", source="DOID:12581"} xref: UMLS:C3887895 {source="MONDO:equivalentTo"} is_a: EFO:0009666 {source="DOID:12581"} ! enthesopathy is_a: MONDO:0002471 {source="https://orcid.org/0000-0002-0736-9199"} ! bursitis property_value: exactMatch DOID:12581 property_value: exactMatch http://identifiers.org/snomedct/425940002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263962 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3887895 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/M70.2 [Term] id: MONDO:0001558 name: Potter sequence def: "A rare, lethal congenital malformation characterized by bilateral renal agenesis and the absence or decreased volume of amniotic fluid (oligohydramnios). The presence of oligohydramnios gives rise to congenital anomalies that include hypoplastic lungs, lower extremities abnormalities, and characteristic facial features (low-set ears, widely separated eyes, nose flattening, and receding chin). Newborn infants usually die of respiratory failure." [NCIT:P378] comment: Editor note: check for subtypes, relationship to OMIM:263200 subset: gard_rare synonym: "oligohydramnios sequence" EXACT [GARD:0004462, NCIT:C40435] synonym: "Potter syndrome" EXACT [DOID:12594, GARD:0004462] synonym: "Potter's sequence" EXACT [NCIT:C40435] synonym: "Potter's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] xref: DOID:12594 {source="MONDO:equivalentTo"} xref: ICD10CM:Q60.6 {source="MONDO:equivalentTo", source="DOID:12594"} xref: NCIT:C40435 {source="MONDO:equivalentTo", source="DOID:12594"} xref: SCTID:41962002 {source="MONDO:equivalentTo", source="DOID:12594"} xref: UMLS:C0178426 {source="MONDO:equivalentTo", source="DOID:12594"} is_a: EFO:0007401 {source="DOID:12594"} ! oligohydramnios is_a: MONDO:0002254 {source="NCIT:C40435"} ! syndromic disease disjoint_from: MONDO:0015986 {source="DOID:0080200"} ! bilateral renal agenesis property_value: exactMatch DOID:12594 property_value: exactMatch http://identifiers.org/snomedct/41962002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0178426 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q60.6 property_value: exactMatch NCIT:C40435 [Term] id: MONDO:0001563 name: vestibulocochlear nerve disorder def: "A disease involving the vestibulocochlear nerve." [https://orcid.org/0000-0002-6601-2165] synonym: "acoustic nerve disease" EXACT [DOID:12657, ICD9CM:388.5] synonym: "acoustic nerve disorder" EXACT [NCIT:C27207] synonym: "acoustic nerve disorder NOS" EXACT [NCIT:C27207] synonym: "disease of vestibulocochlear nerve" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of vestibulocochlear nerve" EXACT [] synonym: "disorder of acoustic nerve" EXACT [] synonym: "disorder of acoustovestibular nerve" RELATED [] synonym: "disorder of eighth nerve" RELATED [] synonym: "disorder of the vestibulocochlear nerve" RELATED [] synonym: "disorder of vestibulocochlear nerve" EXACT [MONDO:patterns/location_top] synonym: "vestibulocochlear nerve disease" EXACT [MONDO:patterns/location] synonym: "vestibulocochlear nerve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "vestibulocochlear nerve disorder" EXACT [NCIT:C27207] xref: DOID:12657 {source="MONDO:equivalentTo"} xref: ICD9:388.5 {source="DOID:12657"} xref: MESH:D000160 {source="DOID:12657", source="MONDO:equivalentTo"} xref: NCIT:C27207 {source="DOID:12657", source="MONDO:equivalentTo"} xref: SCTID:77949003 {source="DOID:12657", source="MONDO:equivalentTo"} xref: UMLS:C0001163 {source="DOID:12657", source="MONDO:equivalentTo"} is_a: EFO:0009387 {source="DOID:12657/inferred", source="MONDO:Redundant"} ! peripheral nervous system disease is_a: MONDO:0002453 {source="DOID:12657", source="MESH:D000160"} ! retrocochlear disease is_a: MONDO:0003569 {source="DOID:12657", source="MESH:D000160", source="MONDO:Redundant", source="NCIT:C27207"} ! cranial nerve neuropathy property_value: exactMatch DOID:12657 property_value: exactMatch http://identifiers.org/mesh/D000160 property_value: exactMatch http://identifiers.org/snomedct/77949003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001163 property_value: exactMatch NCIT:C27207 [Term] id: MONDO:0001566 name: hypercalcemia disease def: "Abnormally high concentration of calcium in the peripheral blood." [NCIT:P378] synonym: "hypercalcemia" EXACT [MONDO:ambiguous] xref: DOID:12678 {source="MONDO:equivalentTo"} xref: HP:0003072 {source="MONDO:otherHierarchy"} xref: ICD10CM:E83.52 {source="DOID:12678", source="MONDO:equivalentTo"} xref: ICD9:275.42 {source="DOID:12678", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D006934 {source="DOID:12678", source="MONDO:equivalentTo"} xref: NCIT:C3112 {source="DOID:12678", source="MONDO:equivalentTo", source="MONDO:otherHierarchy"} xref: SCTID:66931009 {source="DOID:12678", source="MONDO:equivalentTo"} xref: UMLS:C0020437 {source="DOID:12678", source="MONDO:equivalentTo"} is_a: EFO:0005769 {source="DOID:12678", source="MESH:D006934"} ! calcium metabolic disease property_value: exactMatch DOID:12678 property_value: exactMatch http://identifiers.org/mesh/D006934 property_value: exactMatch http://identifiers.org/snomedct/66931009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020437 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E83.52 property_value: exactMatch NCIT:C3112 [Term] id: MONDO:0001567 name: nephrocalcinosis def: "Nephrocalcinosis is a disorder that occurs when too much calcium is deposited in the kidneys. It commonly occurs in premature infants. Individuals may not have symptoms or may have symptoms related to thecondition causing nephrocalcinosis. If kidney stones are present, symptoms may include blood in the urine, fever and chills, nausea and vomiting, and severe pain in the belly area, sides of the back (flank), groin, or testicles. Later symptoms may be associated with chronic kidney failure. It may be caused by use of certain medications or supplements, infection, or any condition that leads to high levels of calcium in the blood or urine including hyperparathyroidism, renal tubular acidosis, Alport syndrome, Bartter syndrome,and a variety of other conditions. Some of the underlying disorders that can cause nephrocalcinosis are genetic, with the inheritance pattern depending on the specific disorder. Treatment differs depending on the cause of nephrocalcinosis and often aims to prevent more calcium from being deposited in the kidneys." [https://rarediseases.info.nih.gov/diseases/7177/nephrocalcinosis] subset: gard_rare {source="GARD:0007177"} synonym: "hypercalcemic nephropathy" RELATED [GARD:0007177] xref: DOID:12679 {source="MONDO:equivalentTo"} xref: ICD9:275.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D009397 {source="DOID:12679", source="MONDO:equivalentTo"} xref: NCIT:C84918 {source="DOID:12679", source="MONDO:equivalentTo"} xref: SCTID:48638002 {source="DOID:12679", source="MONDO:equivalentTo"} xref: UMLS:C0027709 {source="DOID:12679", source="MONDO:equivalentTo", source="NCIT:C84918"} is_a: EFO:0003086 {source="DOID:12679", source="MESH:D009397", source="NCIT:C84918/inferred"} ! kidney disease is_a: MONDO:0002123 {source="DOID:12679", source="MESH:D009397"} ! calcinosis property_value: exactMatch DOID:12679 property_value: exactMatch http://identifiers.org/mesh/D009397 property_value: exactMatch http://identifiers.org/snomedct/48638002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027709 property_value: exactMatch NCIT:C84918 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7177/nephrocalcinosis xsd:anyURI {source="GARD:0007177"} [Term] id: MONDO:0001572 name: leiomyoma def: "A well-circumscribed benign smooth muscle neoplasm characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C3157] synonym: "fibroid" EXACT [NCIT:C3157] synonym: "fibroid neoplasm" EXACT [NCIT:C3157] synonym: "fibroid tumor" EXACT [NCIT:C3157] synonym: "fibroid tumour" EXACT OMO:0003005 [] synonym: "leiomyoma" EXACT [NCIT:C3157] synonym: "leiomyoma, benign" EXACT [NCIT:C3157] synonym: "leiomyomatous neoplasm" EXACT [NCIT:C3157] synonym: "leiomyomatous neoplasm (morphologic abnormality)" EXACT [DOID:127] synonym: "leiomyomatous tumor" EXACT [DOID:127, NCIT:C3157] synonym: "leiomyomatous tumour" EXACT OMO:0003005 [] xref: DOID:127 {source="MONDO:equivalentTo"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8890/0 {source="NCIT:C3157"} xref: MESH:D007889 {source="DOID:127", source="MONDO:equivalentTo"} xref: NCIT:C3157 {source="DOID:127", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:146801000119103 {source="MONDO:equivalentTo"} xref: UMLS:C0023267 {source="DOID:127", source="MONDO:equivalentTo", source="NCIT:C3157"} is_a: EFO:1000121 {source="NCIT:C3157"} ! Benign Smooth Muscle Neoplasm property_value: exactMatch DOID:127 property_value: exactMatch http://identifiers.org/mesh/D007889 property_value: exactMatch http://identifiers.org/snomedct/146801000119103 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023267 property_value: exactMatch NCIT:C3157 [Term] id: MONDO:0001574 name: capillary disorder def: "A disease involving a capillary." [https://orcid.org/0000-0002-6601-2165] synonym: "capillary disease" EXACT [MONDO:patterns/location] synonym: "capillary disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "disease of capillaries" EXACT [DOID:1271] synonym: "disease of capillary" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of capillary" EXACT [] synonym: "disorder of capillary" EXACT [MONDO:patterns/location_top] xref: DOID:1271 {source="MONDO:equivalentTo"} xref: ICD9:448 {source="DOID:1271"} xref: ICD9:448.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:58729003 {source="MONDO:equivalentTo", source="DOID:1271"} xref: UMLS:C0155765 {source="MONDO:equivalentTo", source="DOID:1271"} is_a: EFO:0004264 {source="DOID:1271", source="MONDO:Redundant"} ! vascular disease property_value: exactMatch DOID:1271 property_value: exactMatch http://identifiers.org/snomedct/58729003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155765 [Term] id: MONDO:0001576 name: telangiectasis def: "Local dilatation of small vessels resulting in red discoloration of the skin or mucous membranes." [NCIT:P378] synonym: "telangiectasia" EXACT [DOID:1272, NCIT:C28194] xref: DOID:1272 {source="MONDO:equivalentTo"} xref: MESH:D013684 {source="MONDO:equivalentTo", source="DOID:1272"} xref: NCIT:C28194 {source="MONDO:equivalentTo", source="DOID:1272"} xref: SCTID:247479008 {source="MONDO:equivalentTo", source="DOID:1272"} xref: UMLS:C0039446 {source="MONDO:equivalentTo", source="NCIT:C28194", source="DOID:1272"} is_a: EFO:0003875 {source="DOID:1272"} ! peripheral vascular disease is_a: MONDO:0021658 {source="NCIT:C28194"} ! vascular ectasia property_value: exactMatch DOID:1272 property_value: exactMatch http://identifiers.org/mesh/D013684 property_value: exactMatch http://identifiers.org/snomedct/247479008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039446 property_value: exactMatch NCIT:C28194 [Term] id: MONDO:0001578 name: obsolete hernia of ovary and fallopian tube xref: DOID:12735 {source="MONDO:obsoleteEquivalent"} xref: ICD9:620.4 {source="DOID:12735"} property_value: exactMatch DOID:12735 property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4698 xsd:anyURI is_obsolete: true consider: HP:0100790 [Term] id: MONDO:0001580 name: lacrimal duct cancer def: "A primary or metastatic malignant neoplasm affecting the lacrimal duct." [NCIT:C3567] synonym: "cancer of lacrimal drainage system" EXACT [MONDO:patterns/cancer] synonym: "lacrimal drainage system cancer" EXACT [MONDO:patterns/location] synonym: "malignant lacrimal drainage system neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant lacrimal duct neoplasm" EXACT [NCIT:C3567] synonym: "malignant lacrimal duct tumor" EXACT [NCIT:C3567] synonym: "malignant lacrimal duct tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of lacrimal drainage system" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of lacrimal duct" EXACT [DOID:12756, ICD9CM:190.7, NCIT:C3567] synonym: "malignant neoplasm of the lacrimal duct" EXACT [NCIT:C3567] synonym: "malignant tumor of lacrimal duct" EXACT [DOID:12756, NCIT:C3567] synonym: "malignant tumor of the lacrimal duct" EXACT [NCIT:C3567] synonym: "malignant tumour of lacrimal duct" EXACT OMO:0003005 [] synonym: "malignant tumour of the lacrimal duct" EXACT OMO:0003005 [] xref: DOID:12756 {source="MONDO:equivalentTo"} xref: ICD9:190.7 {source="DOID:12756", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3567 {source="DOID:12756", source="MONDO:equivalentTo"} xref: SCTID:188274004 {source="DOID:12756", source="MONDO:equivalentTo"} xref: UMLS:C0153631 {source="DOID:12756", source="MONDO:equivalentTo", source="NCIT:C3567"} is_a: MONDO:0002460 {source="DOID:12756", source="MONDO:Redundant", source="NCIT:C3567"} ! lacrimal system cancer property_value: exactMatch DOID:12756 property_value: exactMatch http://identifiers.org/snomedct/188274004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153631 property_value: exactMatch NCIT:C3567 [Term] id: MONDO:0001583 name: diabetic polyneuropathy synonym: "diabetes mellitus with polyneuropathy" EXACT [DOID:12785] synonym: "polyneuropathy in diabetes" EXACT [DOID:12785, ICD9CM:357.2] xref: DOID:12785 {source="MONDO:equivalentTo"} xref: ICD9:357.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12785"} xref: SCTID:49455004 {source="MONDO:equivalentTo", source="DOID:12785"} xref: UMLS:C0271680 {source="MONDO:equivalentTo", source="DOID:12785"} is_a: EFO:1000783 {source="DOID:12785"} ! diabetic neuropathy property_value: exactMatch DOID:12785 property_value: exactMatch http://identifiers.org/snomedct/49455004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271680 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0001586 name: mucopolysaccharidosis type 1 def: "The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome)." [NCIT:P378] subset: ordo_disease {source="Orphanet:579"} synonym: "Alpha-L-iduronidase deficiency" EXACT [Orphanet:579] synonym: "attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome)" RELATED [GARD:0010335] synonym: "Hurler syndrome" NARROW [DOID:12802] synonym: "Hurler syndrome (subtype)" RELATED [GARD:0010335] synonym: "Hurler-Scheie syndrome (subtype)" RELATED [GARD:0010335] synonym: "IDUA deficiency" RELATED [GARD:0010335] synonym: "iduronidase deficiency disease" EXACT [DOID:12802] synonym: "lipochondrodystrophy" EXACT [DOID:12802] synonym: "MPS 1" RELATED [GARD:0010335] synonym: "MPS I" RELATED [GARD:0010335] synonym: "MPS I - Hurler syndrome" EXACT [DOID:12802] synonym: "MPS1" EXACT ABBREVIATION [Orphanet:579] synonym: "MPSI" EXACT ABBREVIATION [Orphanet:579] synonym: "mucopolysaccharidosis I" RELATED [DOID:12802] synonym: "mucopolysaccharidosis type 1" EXACT [MONDO:0018934] synonym: "mucopolysaccharidosis type I" EXACT [DOID:12802, MONDORULE:1, Orphanet:579] synonym: "mucopolysaccharidosis, MPS-I" EXACT [DOID:12802] synonym: "mucopolysaccharidosis, type 1" EXACT [DOID:12802] synonym: "Scheie syndrome (subtype) formerly known as Mucopoly-saccharidosis type V)" RELATED [GARD:0010335] synonym: "severe MPS I (subtype, also known as Hurler syndrome)" RELATED [GARD:0010335] xref: DOID:12802 {source="MONDO:equivalentTo"} xref: MedDRA:10056886 {source="Orphanet:579", source="Orphanet:579/e"} xref: NCIT:C85053 {source="DOID:12802", source="MONDO:equivalentTo"} xref: Orphanet:579 {source="MONDO:equivalentTo"} xref: SCTID:75610003 {source="DOID:12802", source="MONDO:equivalentTo"} is_a: EFO:0003966 ! eye disease is_a: EFO:0004260 ! bone disease is_a: MONDO:0019249 {source="DOID:12802", source="NCIT:C85053", source="Orphanet:579"} ! mucopolysaccharidosis relationship: has_characteristic MONDO:0021136 ! rare property_value: closeMatch http://identifiers.org/meddra/10056886 property_value: exactMatch DOID:12802 property_value: exactMatch http://identifiers.org/snomedct/75610003 property_value: exactMatch NCIT:C85053 property_value: exactMatch Orphanet:579 property_value: excluded_subClassOf MONDO:0020186 {source="Orphanet:579"} [Term] id: MONDO:0001589 name: obsolete vaginal enterocele comment: Represents finding. synonym: "enterocele" BROAD [DOID:1283] synonym: "vaginal hernia" RELATED [] xref: DOID:1283 {source="MONDO:obsoleteEquivalent"} xref: ICD9:618.6 {source="MONDO:obsoleteEquivalent", source="MONDO:i2s", source="DOID:1283"} xref: MESH:D006547 {source="MONDO:relatedTo", source="DOID:1283"} xref: SCTID:398061002 {source="MONDO:obsoleteEquivalent", source="DOID:1283"} property_value: exactMatch DOID:1283 property_value: exactMatch http://identifiers.org/snomedct/398061002 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1777 xsd:anyURI is_obsolete: true consider: HP:0100672 [Term] id: MONDO:0001592 name: prolapse of female genital organ comment: Editor note: requires review xref: DOID:1284 {source="MONDO:equivalentTo"} xref: ICD10CM:N81 {source="MONDO:equivalentTo"} xref: ICD9:618.8 {source="DOID:1284"} xref: ICD9:618.89 {source="DOID:1284"} xref: SCTID:73998008 {source="MONDO:equivalentTo"} xref: UMLS:C0156349 {source="MONDO:equivalentTo"} is_a: EFO:0009549 {source="DOID:1284"} ! female reproductive system disease property_value: exactMatch DOID:1284 property_value: exactMatch http://identifiers.org/snomedct/73998008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156349 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/N81 [Term] id: MONDO:0001597 name: submandibular gland disorder def: "A disease involving the submandibular gland." [https://orcid.org/0000-0002-6601-2165] synonym: "disease of submandibular gland" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of submandibular gland" EXACT [] synonym: "disorder of submandibular gland" EXACT [MONDO:patterns/location_top] synonym: "submandibular gland disease" EXACT [MONDO:patterns/location] synonym: "submandibular gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:12897 {source="MONDO:equivalentTo"} xref: MESH:D013364 {source="DOID:12897", source="MONDO:equivalentTo"} xref: UMLS:C0038557 {source="DOID:12897", source="MONDO:equivalentTo"} is_a: EFO:0008581 {source="DOID:12897", source="MESH:D013364", source="MONDO:Entailed", source="MONDO:Redundant"} ! salivary gland disease property_value: exactMatch DOID:12897 property_value: exactMatch http://identifiers.org/mesh/D013364 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038557 [Term] id: MONDO:0001604 name: lagophthalmos xref: DOID:12959 {source="MONDO:equivalentTo"} xref: ICD10CM:H02.2 {source="DOID:12959", source="MONDO:equivalentTo"} xref: ICD9:374.2 {source="DOID:12959"} xref: ICD9:374.20 {source="DOID:12959"} xref: SCTID:60735000 {source="DOID:12959", source="MONDO:equivalentTo"} xref: UMLS:C0152226 {source="DOID:12959", source="MONDO:equivalentTo"} is_a: EFO:0009547 {source="DOID:12959"} ! eyelid disease property_value: exactMatch DOID:12959 property_value: exactMatch http://identifiers.org/snomedct/60735000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152226 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H02.2 [Term] id: MONDO:0001618 name: balanoposthitis xref: DOID:13031 {source="MONDO:equivalentTo"} xref: ICD10CM:N47.6 {source="DOID:13031", source="MONDO:equivalentTo"} xref: ICD9:607.1 {source="DOID:13031"} xref: SCTID:46090001 {source="DOID:13031", source="MONDO:equivalentTo"} xref: UMLS:C0004691 {source="DOID:13031", source="MONDO:equivalentTo"} is_a: EFO:1000833 ! balanitis is_a: MONDO:0021164 ! posthitis property_value: exactMatch DOID:13031 property_value: exactMatch http://identifiers.org/snomedct/46090001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004691 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/N47.6 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0001627 name: dementia def: "Loss of intellectual abilities interfering with an individual's social and occupational functions. Causes include Alzheimer's disease, brain injuries, brain tumors, and vascular disorders." [NCIT:P378] synonym: "dementia" EXACT [NCIT:C4786] synonym: "dementia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:1307 {source="MONDO:equivalentTo"} xref: ICD9:290.8 {source="DOID:1307"} xref: ICD9:294.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:294.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D003704 {source="MONDO:equivalentTo"} xref: NCIT:C4786 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:52448006 {source="MONDO:equivalentTo"} is_a: MONDO:0002039 {source="DOID:1307", source="MESH:D003704", source="MONDO:Redundant", source="NCIT:C4786"} ! cognitive disorder property_value: exactMatch DOID:1307 property_value: exactMatch http://identifiers.org/mesh/D003704 property_value: exactMatch http://identifiers.org/snomedct/52448006 property_value: exactMatch NCIT:C4786 property_value: IAO:0000589 "dementia (disease)" xsd:string [Term] id: MONDO:0001639 name: deficiency anemia synonym: "deficiency anemias" EXACT [DOID:13121] synonym: "unspecified deficiency anaemia" EXACT OMO:0003005 [] synonym: "unspecified deficiency anemia" EXACT [DOID:13121, ICD9CM:281.9] xref: DOID:13121 {source="MONDO:equivalentTo"} xref: ICD9:281.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:281.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13121"} xref: SCTID:267513007 {source="MONDO:equivalentTo", source="DOID:13121"} xref: UMLS:C0041782 {source="MONDO:equivalentTo", source="DOID:13121"} is_a: MONDO:0002280 {source="DOID:13121"} ! anemia property_value: exactMatch DOID:13121 property_value: exactMatch http://identifiers.org/snomedct/267513007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041782 [Term] id: MONDO:0001641 name: severe pre-eclampsia def: "Preeclampsia with a systolic blood pressure of 160 mmHg or higher, or a diastolic blood pressure of 110 mmHg or higher on two occasions at least 4 hours apart while on bedrest. It is associated with thrombocytopenia (platelets less than 100,000 per microliter), impaired liver function (twice normal elevation of hepatic transaminases; severe, persistent right upper quadrant or epigastric pain), progressive renal insufficiency (serum creatinine greater than 1.1 mg/dL or doubling of baseline in the absence of other renal disease), pulmonary edema, or new-onset cerebral or visual disturbances." [NCIT:P378] synonym: "antepartum severe pre-eclampsia" EXACT [DOID:13129] synonym: "postpartum severe pre-eclampsia" EXACT [DOID:13129] synonym: "Preeclampsia with severe features" EXACT [NCIT:C112843] synonym: "severe pre-eclampsia, with delivery" EXACT [DOID:13129] synonym: "severe preeclampsia" EXACT [DOID:13129] xref: DOID:13129 {source="MONDO:equivalentTo"} xref: ICD9:642.50 {source="DOID:13129"} xref: NCIT:C112843 {source="MONDO:equivalentTo"} is_a: EFO:0000668 {source="DOID:13129", source="NCIT:C112843"} ! preeclampsia property_value: exactMatch DOID:13129 property_value: exactMatch NCIT:C112843 [Term] id: MONDO:0001657 name: brain cancer def: "A primary or metastatic malignant neoplasm affecting the brain." [NCIT:C3568] synonym: "adult brain tumor" NARROW [DOID:1319] synonym: "adult brain tumour" NARROW OMO:0003005 [] synonym: "adult malignant brain neoplasm" NARROW [DOID:1319] synonym: "brain cancer" EXACT [MONDO:patterns/location, NCIT:C3568] synonym: "brain neoplasm" BROAD [DOID:1319] synonym: "brain neoplasm, adult" RELATED [DOID:1319, NCIT:C7710] synonym: "brain neoplasms, malignant" EXACT [NCIT:C3568] synonym: "brain tumor, adult" RELATED [GARD:0009307] synonym: "BT - brain tumor" RELATED [DOID:1319] synonym: "BT - brain tumour" RELATED OMO:0003005 [] synonym: "cancer of brain" EXACT [MONDO:patterns/cancer, NCIT:C3568] synonym: "cancer of the brain" EXACT [NCIT:C3568] synonym: "malignant brain neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3568] synonym: "malignant brain tumor" EXACT [DOID:1319, NCIT:C3568] synonym: "malignant brain tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of brain" EXACT [MONDO:patterns/cancer, NCIT:C3568] synonym: "malignant neoplasm of the brain" EXACT [NCIT:C3568] synonym: "malignant primary brain neoplasm" NARROW [DOID:1319, NCIT:C4954] synonym: "malignant primary brain tumor" NARROW [DOID:1319] synonym: "malignant primary brain tumour" NARROW OMO:0003005 [] synonym: "malignant tumor of adult brain" NARROW [DOID:1319, NCIT:C5115] synonym: "malignant tumor of brain" EXACT [DOID:1319, NCIT:C3568] synonym: "malignant tumor of the brain" EXACT [NCIT:C3568] synonym: "malignant tumour of adult brain" NARROW OMO:0003005 [] synonym: "malignant tumour of brain" EXACT OMO:0003005 [] synonym: "malignant tumour of the brain" EXACT OMO:0003005 [] synonym: "neoplasm of unspecified nature of brain" RELATED [DOID:1319, ICD9CM:239.6] synonym: "primary brain neoplasm" RELATED [DOID:1319, NCIT:C4952] synonym: "primary brain tumor" RELATED [DOID:1319] synonym: "primary brain tumour" RELATED OMO:0003005 [] synonym: "primary malignant neoplasm of brain" EXACT [DOID:1319] synonym: "tumor of the brain" BROAD [DOID:1319, NCIT:C2907] synonym: "tumour of the brain" BROAD OMO:0003005 [] xref: CSP:2006-2736 {source="DOID:1319"} xref: DOID:1319 {source="MONDO:equivalentTo"} xref: ICD9:191 {source="DOID:1319"} xref: ICD9:191.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:191.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1319"} xref: ICD9:239.6 {source="DOID:1319"} xref: MESH:D001932 {source="MONDO:equivalentTo", source="DOID:1319"} xref: NCIT:C3568 {source="MONDO:equivalentTo", source="DOID:1319"} xref: NCIT:C4952 {source="DOID:1319", source="MONDO:directSiblingOf"} xref: SCTID:428061005 {source="MONDO:equivalentTo", source="DOID:1319"} is_a: EFO:0000326 {source="DOID:1319", source="MESH:D001932", source="MONDO:Redundant", source="NCIT:C3568/inferred"} ! central nervous system cancer is_a: EFO:0003833 {source="MONDO:Redundant", source="NCIT:C3568"} ! brain neoplasm property_value: exactMatch DOID:1319 property_value: exactMatch http://identifiers.org/mesh/D001932 property_value: exactMatch http://identifiers.org/snomedct/428061005 property_value: exactMatch NCIT:C3568 [Term] id: MONDO:0001658 name: nontoxic goiter def: "Sporadic enlargement of the thyroid gland that is not associated with changes in thyroid function or malignancy." [NCIT:P378] synonym: "euthyroid goiter" EXACT [NCIT:C35271] synonym: "euthyroid goitre" EXACT OMO:0003005 [] synonym: "goiter, non-toxic" EXACT [DOID:13195] synonym: "Nodule-thyroid, non tox" EXACT [DOID:13195] synonym: "non-toxic goiter" EXACT [DOID:13195, NCIT:C35271] synonym: "non-toxic goitre" EXACT OMO:0003005 [] synonym: "non-toxic simple goiter" EXACT [DOID:13195] synonym: "non-toxic simple goitre" EXACT OMO:0003005 [] synonym: "nontoxic goiter" EXACT [DOID:13195, NCIT:C35271] xref: DOID:13195 {source="MONDO:equivalentTo"} xref: NCIT:C35271 {source="MONDO:equivalentTo", source="DOID:13195"} xref: SCTID:267369002 {source="MONDO:relatedTo", source="DOID:13195"} xref: UMLS:C0221777 {source="NCIT:C35271", source="MONDO:equivalentTo", source="DOID:13195"} is_a: EFO:0004283 {source="DOID:13195", source="NCIT:C35271"} ! goiter property_value: exactMatch DOID:13195 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221777 property_value: exactMatch NCIT:C35271 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0001672 name: bronchus cancer def: "A malignant neoplasm involving the bronchus" [https://orcid.org/0000-0002-6601-2165] synonym: "bronchus cancer" EXACT [MONDO:patterns/location] synonym: "cancer of bronchus" EXACT [MONDO:patterns/cancer] synonym: "malignant bronchus neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of bronchus" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of bronchus and lung" NARROW [DOID:1325] synonym: "malignant neoplasm of bronchus and lung, unspecified" NARROW [DOID:1325, ICD9CM:162.9] synonym: "malignant neoplasm of bronchus or lung" RELATED [DOID:1325] xref: DOID:1325 {source="MONDO:equivalentTo"} xref: ICD9:162.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:1325"} xref: SCTID:363493006 {source="MONDO:equivalentTo"} is_a: EFO:1000849 {source="MONDO:Redundant"} ! bronchial neoplasm is_a: MONDO:0000376 {source="DOID:1325", source="MONDO:Redundant"} ! respiratory system cancer property_value: exactMatch DOID:1325 property_value: exactMatch http://identifiers.org/snomedct/363493006 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0001673 name: diarrheal disease def: "The condition of having at least three loose or liquid bowel movements each day." [Wikipedia:Diarrhea] synonym: "diarrhea" EXACT [DOID:13250] synonym: "diarrhea of presumed infectious origin" RELATED [DOID:13250] synonym: "diarrheal disease" EXACT [] synonym: "diarrheal disorder" EXACT [] synonym: "diarrhoea" EXACT OMO:0003005 [] synonym: "diarrhoea of presumed infectious origin" RELATED OMO:0003005 [] synonym: "frequent stools" EXACT [NCIT:C2987] synonym: "loose stools" EXACT [NCIT:C2987] xref: DOID:13250 {source="MONDO:equivalentTo"} xref: HP:0002014 {source="MONDO:otherHierarchy"} xref: ICD9:009.2 {source="DOID:13250"} xref: MESH:D003967 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:13250"} xref: NCIT:C2987 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="MONDO:exact-label-match"} xref: SCTID:111939009 {source="MONDO:relatedTo", source="DOID:13250"} xref: SCTID:128333008 {source="MONDO:equivalentTo"} xref: UMLS:C0013369 {source="MONDO:relatedTo", source="DOID:13250"} is_a: EFO:0000405 {source="DOID:13250", source="MONDO:Redundant"} ! digestive system disease property_value: exactMatch DOID:13250 property_value: exactMatch http://identifiers.org/mesh/D003967 property_value: exactMatch http://identifiers.org/snomedct/128333008 property_value: exactMatch NCIT:C2987 [Term] id: MONDO:0001674 name: diverticulitis of colon def: "Inflammation of the colonic diverticula, generally with abscess formation and subsequent perforation." [MESH:D004239] synonym: "colon diverticulitis" EXACT [MONDO:patterns/location] synonym: "colonic diverticular disease" EXACT [DOID:13254] xref: DOID:13254 {source="MONDO:equivalentTo"} xref: ICD9:562.11 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:562.12 {source="DOID:13254"} xref: MESH:D004239 {source="MONDO:equivalentTo", source="DOID:13254"} xref: SCTID:111359004 {source="MONDO:equivalentTo"} xref: UMLS:C0012814 {source="MONDO:equivalentTo"} is_a: EFO:1001460 {source="DOID:13254", source="MONDO:Redundant"} ! diverticulitis is_a: MONDO:0003409 {source="DOID:13254", source="MESH:D004239/inferred", source="MONDO:Redundant"} ! colonic disorder property_value: exactMatch DOID:13254 property_value: exactMatch http://identifiers.org/mesh/D004239 property_value: exactMatch http://identifiers.org/snomedct/111359004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0012814 [Term] id: MONDO:0001676 name: erythropoietic protoporphyria def: "A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly." [https://github.com/monarch-initiative/mondo/issues/1737] synonym: "EPP (erythropoietic protoporphyria porphyria)" EXACT [DOID:13270] synonym: "protoporphyria" EXACT [DOID:13270] xref: DOID:13270 {source="MONDO:equivalentTo"} xref: MESH:D046351 {source="DOID:13270", source="MONDO:equivalentTo"} xref: OMIMPS:177000 {source="MONDO:equivalentTo"} xref: SCTID:51022005 {source="DOID:13270", source="MONDO:equivalentTo"} is_a: MONDO:0002520 {source="DOID:13270", source="MESH:D046351"} ! hepatic porphyria is_a: MONDO:0019142 ! inherited porphyria property_value: exactMatch DOID:13270 property_value: exactMatch http://identifiers.org/mesh/D046351 property_value: exactMatch http://identifiers.org/snomedct/51022005 property_value: exactMatch https://omim.org/phenotypicSeries/PS177000 [Term] id: MONDO:0001680 name: vaginal mullerian papilloma def: "A benign papilloma that arises from the vagina in infants and young women." [NCIT:C40255] synonym: "vaginal Muellerian papilloma" EXACT [DOID:133] synonym: "vaginal Mullerian papilloma" EXACT [NCIT:C40255] synonym: "vaginal Müllerian papilloma" EXACT [NCIT:C40255] xref: DOID:133 {source="MONDO:equivalentTo"} xref: NCIT:C40255 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:133"} xref: UMLS:C1519926 {source="MONDO:equivalentTo", source="DOID:133", source="NCIT:C40255"} is_a: MONDO:0000647 {source="MONDO:Redundant", source="NCIT:C40255"} ! benign vaginal neoplasm is_a: MONDO:0001704 {source="DOID:133", source="MONDO:Redundant", source="NCIT:C40255"} ! vaginal glandular neoplasm is_a: MONDO:0021078 ! glandular papilloma intersection_of: MONDO:0000647 {source="NCIT:C40255"} ! benign vaginal neoplasm intersection_of: MONDO:0001704 {source="NCIT:C40255"} ! vaginal glandular neoplasm intersection_of: MONDO:0002363 {source="NCIT:C40255"} ! papilloma property_value: exactMatch DOID:133 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519926 property_value: exactMatch NCIT:C40255 [Term] id: MONDO:0001684 name: exocrine pancreatic insufficiency def: "Inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine. Patients present with symptoms of malabsorption syndrome, abdominal discomfort, and bloating. Causes include chronic pancreatitis, cystic fibrosis, and autoimmune disorders." [NCIT:C84316] synonym: "exocrine pancreas insufficiency" RELATED [NCIT:C84316] synonym: "exocrine pancreatic insufficiency" EXACT [NCIT:C84316] synonym: "pancreatic insufficiency" RELATED [NCIT:C84316] xref: DOID:13316 {source="MONDO:equivalentTo"} xref: ICD10CM:K86.81 {source="MONDO:equivalentTo"} xref: ICD9:577.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D010188 {source="DOID:13316", source="MONDO:equivalentTo"} xref: NCIT:C84316 {source="DOID:13316", source="MONDO:equivalentTo"} xref: SCTID:47367009 {source="DOID:13316", source="MONDO:equivalentTo"} xref: UMLS:C0267963 {source="DOID:13316", source="NCIT:C84316", source="MONDO:equivalentTo"} is_a: EFO:0009605 {source="DOID:13316", source="MESH:D010188", source="NCIT:C84316/inferred"} ! pancreas disease property_value: exactMatch DOID:13316 property_value: exactMatch http://identifiers.org/mesh/D010188 property_value: exactMatch http://identifiers.org/snomedct/47367009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267963 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K86.81 property_value: exactMatch NCIT:C84316 [Term] id: MONDO:0001697 name: reading disorder def: "A learning disability involving difficulty reading resulting primarily from neurological factors which affect any part of the reading process." [DOID:13365, http://en.wikipedia.org/wiki/Learning_disabilities#Writing_disorder_.28ICD-10_and_DSM-IV_codes_F81.1.2F315.2.29, http://en.wikipedia.org/wiki/Reading_disability] xref: DOID:13365 {source="MONDO:equivalentTo"} xref: ICD9:315.00 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:315.09 {source="DOID:13365"} xref: SCTID:52824009 {source="MONDO:equivalentTo"} is_a: MONDO:0004681 {source="DOID:13365"} ! learning disability property_value: exactMatch DOID:13365 property_value: exactMatch http://identifiers.org/snomedct/52824009 [Term] id: MONDO:0001700 name: megaloblastic anemia def: "Anemia characterized by the presence of unusually large erythroblasts in the bone marrow called megaloblasts. It is usually caused by vitamin B12 or folic acid deficiency. Other causes include toxins and drugs." [NCIT:P378] synonym: "Grasbeck-Imerslund syndrome" EXACT [DOID:13382] synonym: "IGS" RELATED ABBREVIATION [DOID:13382] synonym: "megaloblastic anaemia (disease)" EXACT OMO:0003005 [] synonym: "megaloblastic anemia" EXACT [MONDO:ambiguous] synonym: "megaloblastic anemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "MGA1 Norwegian type" EXACT [DOID:13382] synonym: "recessive hereditary megaloblastic anaemia 1" EXACT OMO:0003005 [] synonym: "recessive hereditary megaloblastic anemia 1" EXACT [DOID:13382] synonym: "RH-MGA1" EXACT [DOID:13382] xref: DOID:13382 {source="MONDO:equivalentTo"} xref: HP:0001889 {source="MONDO:otherHierarchy"} xref: ICD9:281.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C34382 {source="MONDO:equivalentTo", source="DOID:13382"} xref: SCTID:53165003 {source="MONDO:equivalentTo", source="DOID:13382"} xref: UMLS:C0002888 {source="NCIT:C34382", source="MONDO:equivalentTo", source="DOID:13382"} is_a: MONDO:0002281 {source="DOID:13382", source="NCIT:C34382"} ! macrocytic anemia property_value: exactMatch DOID:13382 property_value: exactMatch http://identifiers.org/snomedct/53165003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002888 property_value: exactMatch NCIT:C34382 property_value: IAO:0000589 "megaloblastic anemia (disease)" xsd:string [Term] id: MONDO:0001703 name: color vision disorder def: "The absence of or defect in the perception of colors." [NCIT:P378] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98658"} synonym: "blindness color" EXACT [DOID:13399, MTH:NOCODE] synonym: "blindness colour" EXACT OMO:0003005 [] synonym: "color blindness" EXACT [DOID:13399] synonym: "color vision defects" EXACT [NCIT:C3891] synonym: "color vision deficiency" EXACT [DOID:13399, NCIT:C3891] synonym: "color-vision disease" EXACT [MONDO:0020239] synonym: "colour blindness" EXACT OMO:0003005 [] synonym: "colour vision defects" EXACT OMO:0003005 [] synonym: "colour vision deficiency" EXACT OMO:0003005 [] xref: DOID:13399 {source="MONDO:equivalentTo"} xref: ICD9:368.5 {source="DOID:13399"} xref: ICD9:368.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C3891 {source="MONDO:equivalentTo", source="DOID:13399"} xref: Orphanet:98658 {source="MONDO:equivalentTo"} xref: SCTID:193683001 {source="MONDO:equivalentTo", source="DOID:13399"} xref: UMLS:C0009398 {source="MONDO:equivalentTo"} xref: UMLS:C0242225 {source="NCIT:C3891", source="MONDO:equivalentTo", source="DOID:13399"} xref: UMLS:CN207064 {source="MONDO:equivalentTo"} is_a: MONDO:0001941 {source="DOID:13399", source="NCIT:C3891"} ! blindness (disorder) property_value: exactMatch DOID:13399 property_value: exactMatch http://identifiers.org/snomedct/193683001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009398 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242225 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207064 property_value: exactMatch NCIT:C3891 property_value: exactMatch Orphanet:98658 property_value: excluded_subClassOf MONDO:0001941 {source="NCIT:C3891"} [Term] id: MONDO:0001704 name: vaginal glandular neoplasm def: "A benign or malignant neoplasm that arises from the vagina and is characterized by the presence of neoplastic glandular epithelial cells. Representative examples include adenoma, endometrioid adenocarcinoma, and clear cell adenocarcinoma." [NCIT:C40250] synonym: "vagina glandular cell neoplasm" EXACT [MONDO:patterns/location] synonym: "vaginal glandular neoplasm" EXACT [NCIT:C40250] synonym: "vaginal glandular tumor" EXACT [NCIT:C40250] synonym: "vaginal glandular tumour" EXACT OMO:0003005 [] xref: DOID:134 {source="MONDO:equivalentTo"} xref: NCIT:C40250 {source="MONDO:equivalentTo", source="DOID:134"} xref: UMLS:C1519921 {source="MONDO:equivalentTo", source="NCIT:C40250", source="DOID:134"} is_a: EFO:1001447 {source="MONDO:Redundant", source="NCIT:C40250"} ! Vaginal neoplasm is_a: MONDO:0024276 ! glandular cell neoplasm property_value: exactMatch DOID:134 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519921 property_value: exactMatch NCIT:C40250 [Term] id: MONDO:0001705 name: pure red-cell aplasia def: "A disease characterized by normocytic, normochromic anemia, low hematocrit, reticulocytopenia, and selective erythroid hypoplasia." [NCIT:P378] synonym: "PRCA" EXACT ABBREVIATION [NCIT:C34974] synonym: "primary red cell aplasia" EXACT [DOID:1340] synonym: "pure red cell aplasia" EXACT [DOID:1340, NCIT:C34974] synonym: "red cell hypoplasia" EXACT [DOID:1340] xref: DOID:1340 {source="MONDO:equivalentTo"} xref: ICD9:284.81 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D012010 {source="DOID:1340", source="MONDO:equivalentTo"} xref: NCIT:C34974 {source="DOID:1340", source="MONDO:equivalentTo"} xref: SCTID:50715003 {source="DOID:1340", source="MONDO:equivalentTo"} xref: UMLS:C0034902 {source="DOID:1340", source="MONDO:equivalentTo", source="NCIT:C34974"} is_a: MONDO:0002280 {source="DOID:1340/inferred", source="MESH:D012010"} ! anemia property_value: exactMatch DOID:1340 property_value: exactMatch http://identifiers.org/mesh/D012010 property_value: exactMatch http://identifiers.org/snomedct/50715003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034902 property_value: exactMatch NCIT:C34974 property_value: excluded_subClassOf MONDO:0012197 {source="DOID:1340"} [Term] id: MONDO:0001713 name: inherited aplastic anemia def: "An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia." [MESH:D029502] comment: In DO this is classified as idiopathic; however, ORDO classifies idiopathic as acquired which leads to an inconsistency subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:68383"} synonym: "congenital aplastic anaemia" RELATED OMO:0003005 [] synonym: "congenital aplastic anemia" RELATED [] synonym: "congenital hypoplastic anaemia" RELATED OMO:0003005 [] synonym: "congenital hypoplastic anemia" RELATED [DOID:1342] synonym: "constitutional aplastic anaemia" EXACT OMO:0003005 [] synonym: "constitutional aplastic anemia" EXACT [DOID:1342] synonym: "hereditary aplastic anaemia" EXACT OMO:0003005 [] synonym: "hereditary aplastic anemia" EXACT [MONDO:patterns/hereditary] synonym: "hypoplastic anaemia - familial" RELATED OMO:0003005 [] synonym: "hypoplastic anemia - familial" RELATED [] synonym: "rare constitutional aplastic anaemia" NARROW OMO:0003005 [] synonym: "rare constitutional aplastic anemia" NARROW [Orphanet:68383] xref: DOID:1342 {source="MONDO:equivalentTo"} xref: ICD10CM:D61.0 {source="DOID:1342", source="MONDO:equivalentTo", source="Orphanet:68383", source="Orphanet:68383/attributed", source="Orphanet:68383/ntbt"} xref: ICD9:284.0 {source="DOID:1342", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:284.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D029502 {source="DOID:1342", source="MONDO:equivalentTo"} xref: Orphanet:68383 {source="MONDO:equivalentTo"} xref: SCTID:28975000 {source="DOID:1342", source="MONDO:equivalentTo"} xref: UMLS:C0702159 {source="DOID:1342", source="MONDO:equivalentTo"} xref: UMLS:C0949116 {source="DOID:1342", source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0015909 {source="DOID:1342", source="MESH:D029502", source="MONDO:Redundant", source="Orphanet:68383"} ! aplastic anemia intersection_of: MONDO:0015909 ! aplastic anemia intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch DOID:1342 property_value: exactMatch http://identifiers.org/mesh/D029502 property_value: exactMatch http://identifiers.org/snomedct/28975000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0702159 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0949116 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D61.0 property_value: exactMatch Orphanet:68383 property_value: excluded_subClassOf MONDO:0012197 {source="DOID:1342"} [Term] id: MONDO:0001718 name: scleritis def: "Inflammation of the sclera." [NCIT:P378] synonym: "scleritis" EXACT [MONDO:ambiguous] synonym: "scleritis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:13452 {source="MONDO:equivalentTo"} xref: HP:0100532 {source="MONDO:otherHierarchy"} xref: ICD9:379.00 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13452"} xref: MESH:D015423 {source="MONDO:equivalentTo", source="DOID:13452"} xref: NCIT:C119046 {source="MONDO:equivalentTo", source="DOID:13452"} xref: SCTID:78370002 {source="MONDO:equivalentTo", source="DOID:13452"} xref: UMLS:C0036416 {source="NCIT:C119046", source="MONDO:equivalentTo", source="DOID:13452"} is_a: MONDO:0001269 {source="DOID:13452", source="MESH:D015423", source="NCIT:C119046"} ! scleral disorder property_value: exactMatch DOID:13452 property_value: exactMatch http://identifiers.org/mesh/D015423 property_value: exactMatch http://identifiers.org/snomedct/78370002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036416 property_value: exactMatch NCIT:C119046 property_value: IAO:0000589 "scleritis (disease)" xsd:string [Term] id: MONDO:0001721 name: urethral intrinsic sphincter deficiency synonym: "intrinsic (urethral) sphincter deficiency [ISD]" EXACT [DOID:13461, ICD9CM:599.82] xref: DOID:13461 {source="MONDO:equivalentTo"} xref: ICD9:599.82 {source="DOID:13461"} xref: UMLS:C0375381 {source="MONDO:equivalentTo", source="DOID:13461"} is_a: EFO:0009689 {source="DOID:13461", source="MONDO:Entailed"} ! urethral disease property_value: exactMatch DOID:13461 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0375381 [Term] id: MONDO:0001724 name: supraglottis cancer def: "A malignant neoplasm that affects the supraglottic area of the larynx. The vast majority of cases are squamous cell carcinomas." [NCIT:C3545] synonym: "Ca larynx - supraglottis" EXACT [DOID:13476] synonym: "cancer of supraglottic part of larynx" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of extrinsic larynx" EXACT [DOID:13476] synonym: "malignant neoplasm of supraglottic part of larynx" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of supraglottis" EXACT [DOID:13476, ICD9CM:161.1, NCIT:C3545] synonym: "malignant neoplasm of the supraglottis" EXACT [NCIT:C3545] synonym: "malignant supraglottic neoplasm" EXACT [NCIT:C3545] synonym: "malignant supraglottic part of larynx neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant supraglottic tumor" EXACT [DOID:13476, NCIT:C3545] synonym: "malignant supraglottic tumour" EXACT OMO:0003005 [] synonym: "malignant supraglottis neoplasm" EXACT [NCIT:C3545] synonym: "malignant supraglottis tumor" EXACT [NCIT:C3545] synonym: "malignant supraglottis tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of supraglottis" EXACT [NCIT:C3545] synonym: "malignant tumor of the supraglottis" EXACT [NCIT:C3545] synonym: "malignant tumour of supraglottis" EXACT OMO:0003005 [] synonym: "malignant tumour of the supraglottis" EXACT OMO:0003005 [] synonym: "supraglottic part of larynx cancer" EXACT [MONDO:patterns/location] xref: DOID:13476 {source="MONDO:equivalentTo"} xref: ICD10CM:C32.1 {source="MONDO:equivalentTo", source="DOID:13476"} xref: ICD9:161.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13476"} xref: NCIT:C3545 {source="MONDO:equivalentTo", source="DOID:13476"} xref: SCTID:187842004 {source="MONDO:equivalentTo", source="DOID:13476"} xref: UMLS:C0153484 {source="MONDO:equivalentTo", source="NCIT:C3545", source="DOID:13476"} is_a: EFO:1000354 {source="DOID:13476", source="MONDO:Redundant", source="NCIT:C3545"} ! Malignant Laryngeal Neoplasm is_a: MONDO:0004427 {source="MONDO:Redundant", source="NCIT:C3545"} ! supraglottis neoplasm property_value: exactMatch DOID:13476 property_value: exactMatch http://identifiers.org/snomedct/187842004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153484 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/C32.1 property_value: exactMatch NCIT:C3545 property_value: excluded_synonym "supraglottis" xsd:string {source="DOID:13476"} [Term] id: MONDO:0001730 name: urethral syndrome xref: DOID:13498 {source="MONDO:equivalentTo"} xref: ICD9:597.81 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13498"} xref: SCTID:31273004 {source="MONDO:equivalentTo", source="DOID:13498"} xref: UMLS:C0156279 {source="MONDO:equivalentTo", source="DOID:13498"} is_a: EFO:0009689 {source="DOID:13498"} ! urethral disease property_value: exactMatch DOID:13498 property_value: exactMatch http://identifiers.org/snomedct/31273004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156279 [Term] id: MONDO:0001734 name: tuberous sclerosis def: "Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade." [NCIT:P378] subset: clingen subset: gard_rare subset: ordo_disease {source="Orphanet:805"} synonym: "adenoma sebaceum" RELATED [MESH:D014402] synonym: "adenoma sebaceum syndrome" RELATED [] synonym: "Bourneville disease" RELATED [MESH:D014402] synonym: "Bourneville Phacomatosis" RELATED [MESH:D014402] synonym: "Bourneville phakomatosis" RELATED [MESH:D014402] synonym: "Bourneville pringle disease" RELATED [MESH:D014402] synonym: "Bourneville pringle's disease" RELATED [MESH:D014402] synonym: "Bourneville syndrome" EXACT [MESH:D014402, Orphanet:805] synonym: "Bourneville's disease" EXACT [DOID:13515, NCIT:C3424] synonym: "bourneville's disease" RELATED [] synonym: "Bourneville's syndrome" EXACT [GARD:0000946, MESH:D014402] synonym: "Bourneville-pringle disease" RELATED [MESH:D014402] synonym: "Bourneville-pringle's disease" RELATED [MESH:D014402] synonym: "Bourneville-Pringles disease" RELATED [MESH:D014402] synonym: "cerebral Scleroses" RELATED [MESH:D014402] synonym: "cerebral sclerosis" EXACT [DOID:13515] synonym: "disease, Bourneville-pringle" RELATED [MESH:D014402] synonym: "disease, Bourneville-pringle's" RELATED [MESH:D014402] synonym: "Epiloia" EXACT [DOID:13515, MESH:D014402] synonym: "Phacomatosis, Bourneville" RELATED [MESH:D014402] synonym: "phakomatosis, Bourneville" RELATED [MESH:D014402] synonym: "sclerosis Tuberosa" RELATED [MESH:D014402] synonym: "sclerosis, cerebral" RELATED [MESH:D014402] synonym: "sclerosis, tuberose" RELATED [MESH:D014402] synonym: "sclerosis, tuberous" RELATED [MESH:D014402] synonym: "syndrome, Bourneville" RELATED [MESH:D014402] synonym: "syndrome, Bourneville's" RELATED [MESH:D014402] synonym: "ts - tuberous sclerosis" RELATED [] synonym: "TSC" EXACT ABBREVIATION [NCIT:C3424] synonym: "tuberose sclerosis" EXACT [DOID:13515] synonym: "tuberous sclerosis" EXACT [DOID:13515, ICD9CM:759.5, Orphanet:805] synonym: "tuberous sclerosis Complex" RELATED [MESH:D014402] synonym: "tuberous sclerosis complex" EXACT [MONDO:0019341] synonym: "tuberous sclerosis syndrome" EXACT [NCIT:C3424] xref: DOID:13515 {source="MONDO:equivalentTo"} xref: ICD9:759.5 {source="DOID:13515", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10045138 {source="Orphanet:805", source="Orphanet:805/e"} xref: MESH:D014402 {source="DOID:13515", source="MONDO:equivalentTo", source="Orphanet:805", source="Orphanet:805/e"} xref: NCIT:C3424 {source="DOID:13515", source="MONDO:equivalentTo"} xref: OMIMPS:191100 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:805 {source="MONDO:equivalentTo"} xref: SCTID:7199000 {source="DOID:13515", source="MONDO:equivalentTo"} is_a: MONDO:0000426 {source="DOID:13515"} ! autosomal dominant disease is_a: MONDO:0015356 {source="MESH:D014402", source="NCIT:C3424/inferred"} ! hereditary neoplastic syndrome is_a: MONDO:0042983 {source="MESH:D014402", source="NCIT:C3424", source="https://www.hopkinsmedicine.org"} ! neurocutaneous syndrome relationship: disease_has_feature EFO:1000634 {source="MESH:D014402"} ! hamartoma property_value: closeMatch http://identifiers.org/meddra/10045138 property_value: exactMatch DOID:13515 property_value: exactMatch http://identifiers.org/mesh/D014402 property_value: exactMatch http://identifiers.org/snomedct/7199000 property_value: exactMatch https://omim.org/phenotypicSeries/PS191100 property_value: exactMatch NCIT:C3424 property_value: exactMatch Orphanet:805 property_value: excluded_subClassOf MONDO:0016756 {source="Orphanet:805"} property_value: excluded_subClassOf MONDO:0017891 {source="Orphanet:805"} property_value: excluded_subClassOf MONDO:0024237 {source="MESH:D014402"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1489 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6025 xsd:anyURI [Term] id: MONDO:0001744 name: angle-closure glaucoma def: "The sudden increase of intraocular pressure, resulting in pain and an abrupt decrease in visual acuity." [NCIT:C34639] synonym: "ACG - angle-closure glaucoma" EXACT [DOID:13550] synonym: "angle closure glaucoma" EXACT [DOID:13550, MTH:NOCODE, NCIT:C34639] synonym: "Narrow cleft glaucoma" EXACT [DOID:13550] synonym: "primary open-angle glaucoma with narrow angles" EXACT [DOID:13550] xref: DOID:13550 {source="MONDO:equivalentTo"} xref: MESH:D015812 {source="MONDO:equivalentTo", source="DOID:13550"} xref: SCTID:392291006 {source="MONDO:equivalentTo", source="DOID:13550"} xref: UMLS:C0017605 {source="MONDO:equivalentTo", source="DOID:13550"} is_a: MONDO:0005041 {source="DOID:13550", source="MESH:D015812"} ! glaucoma property_value: exactMatch DOID:13550 property_value: exactMatch http://identifiers.org/mesh/D015812 property_value: exactMatch http://identifiers.org/snomedct/392291006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017605 [Term] id: MONDO:0001747 name: tibial collateral ligament bursitis xref: DOID:13566 {source="MONDO:equivalentTo"} xref: ICD9:726.62 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13566"} xref: SCTID:44245003 {source="MONDO:equivalentTo", source="DOID:13566"} xref: UMLS:C0158315 {source="MONDO:equivalentTo", source="DOID:13566"} is_a: EFO:0009666 {source="DOID:13566"} ! enthesopathy property_value: exactMatch DOID:13566 property_value: exactMatch http://identifiers.org/snomedct/44245003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0158315 [Term] id: MONDO:0001748 name: maxillary sinus carcinoma def: "A carcinoma that arises from the maxillary sinus. Representative examples include squamous cell carcinoma, adenocarcinoma, and adenoid cystic carcinoma." [NCIT:C9332] synonym: "cancer of maxillary sinus" EXACT [MONDO:patterns/cancer] synonym: "carcinoma of maxillary sinus" EXACT [MONDO:patterns/carcinoma] synonym: "malignant maxillary sinus neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3540] synonym: "malignant maxillary sinus tumor" EXACT [NCIT:C3540] synonym: "malignant maxillary sinus tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of antrum" EXACT [DOID:1357] synonym: "malignant neoplasm of maxillary sinus" EXACT [MONDO:patterns/cancer, NCIT:C3540] synonym: "malignant neoplasm of the maxillary sinus" EXACT [NCIT:C3540] synonym: "malignant tumor of maxillary sinus" EXACT [NCIT:C3540] synonym: "malignant tumor of the maxillary sinus" EXACT [DOID:1357, NCIT:C3540] synonym: "malignant tumour of maxillary sinus" EXACT OMO:0003005 [] synonym: "malignant tumour of the maxillary sinus" EXACT OMO:0003005 [] synonym: "maxillary sinus cancer" EXACT [MONDO:patterns/location, NCIT:C9332] synonym: "maxillary sinus carcinoma" EXACT [NCIT:C9332] xref: DOID:1357 {source="MONDO:equivalentTo"} xref: ICD9:160.2 {source="DOID:1357", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3540 {source="DOID:1357", source="MONDO:equivalentTo"} xref: NCIT:C9332 {source="DOID:1357", source="MONDO:equivalentTo"} xref: SCTID:363425008 {source="DOID:1357", source="MONDO:equivalentTo"} is_a: EFO:0007333 ! jaw cancer is_a: EFO:1000218 ! Digestive System Carcinoma is_a: EFO:1001035 {source="MONDO:Redundant", source="NCIT:C3540", source="NCIT:C9332/inferred"} ! maxillary sinus neoplasm is_a: MONDO:0000380 {source="DOID:1357", source="MONDO:Redundant", source="NCIT:C9332"} ! paranasal sinus carcinoma property_value: exactMatch DOID:1357 property_value: exactMatch http://identifiers.org/snomedct/363425008 property_value: exactMatch NCIT:C3540 property_value: exactMatch NCIT:C9332 [Term] id: MONDO:0001750 name: non-renal secondary hyperparathyroidism xref: DOID:13575 {source="MONDO:equivalentTo"} xref: ICD9:252.02 {source="DOID:13575"} is_a: EFO:1001173 {source="MONDO:Redundant", source="MONDO:cjm"} ! secondary hyperparathyroidism property_value: exactMatch DOID:13575 [Term] id: MONDO:0001751 name: cholestasis def: "Impairment of the bile flow caused by obstruction within the liver, or outside the liver in the bile duct system." [NCIT:P378] synonym: "bile occlusion" EXACT [DOID:13580] synonym: "obstruction of bile duct" EXACT [DOID:13580, ICD9CM:576.2] xref: DOID:13580 {source="MONDO:equivalentTo"} xref: ICD9:576.2 {source="MONDO:equivalentTo", source="DOID:13580", source="MONDO:i2s"} xref: MESH:D002779 {source="MONDO:equivalentTo", source="DOID:13580"} xref: SCTID:30144000 {source="MONDO:equivalentTo", source="DOID:13580"} xref: UMLS:C0008370 {source="MONDO:equivalentTo", source="DOID:13580"} is_a: MONDO:0002887 {source="DOID:13580", source="MESH:D002779"} ! bile duct disorder property_value: exactMatch DOID:13580 property_value: exactMatch http://identifiers.org/mesh/D002779 property_value: exactMatch http://identifiers.org/snomedct/30144000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008370 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0001763 name: ethmoid sinus cancer def: "A malignant neoplasm involving the ethmoid sinus." [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of ethmoid sinus" EXACT [MONDO:patterns/cancer] synonym: "ethmoid sinus cancer" EXACT [MONDO:patterns/location] synonym: "malignant ethmoid sinus neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant ethmoid sinus tumor" EXACT [NCIT:C3541] synonym: "malignant ethmoid sinus tumour" EXACT OMO:0003005 [] synonym: "malignant ethmoidal sinus neoplasm" EXACT [NCIT:C3541] synonym: "malignant ethmoidal sinus tumor" EXACT [NCIT:C3541] synonym: "malignant ethmoidal sinus tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of ethmoid sinus" EXACT [MONDO:patterns/cancer, NCIT:C3541] synonym: "malignant neoplasm of ethmoidal sinus" EXACT [DOID:1363, ICD9CM:160.3] synonym: "malignant neoplasm of the ethmoid sinus" EXACT [NCIT:C3541] synonym: "malignant neoplasm of the ethmoidal sinus" EXACT [NCIT:C3541] synonym: "malignant tumor of ethmoid sinus" EXACT [NCIT:C3541] synonym: "malignant tumor of ethmoidal sinus" EXACT [DOID:1363, NCIT:C3541] synonym: "malignant tumor of the ethmoid sinus" EXACT [NCIT:C3541] synonym: "malignant tumor of the ethmoidal sinus" EXACT [NCIT:C3541] synonym: "malignant tumour of ethmoid sinus" EXACT OMO:0003005 [] synonym: "malignant tumour of ethmoidal sinus" EXACT OMO:0003005 [] synonym: "malignant tumour of the ethmoid sinus" EXACT OMO:0003005 [] synonym: "malignant tumour of the ethmoidal sinus" EXACT OMO:0003005 [] xref: DOID:1363 {source="MONDO:equivalentTo"} xref: ICD10CM:C31.1 {source="DOID:1363", source="MONDO:equivalentTo"} xref: ICD9:160.3 {source="DOID:1363", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3541 {source="DOID:1363", source="MONDO:equivalentTo"} xref: SCTID:363426009 {source="DOID:1363", source="MONDO:equivalentTo"} xref: UMLS:C0153477 {source="DOID:1363", source="MONDO:equivalentTo", source="NCIT:C3541"} is_a: MONDO:0000380 {source="DOID:1363", source="MONDO:Entailed"} ! paranasal sinus carcinoma is_a: MONDO:0001764 {source="MONDO:Redundant", source="NCIT:C3541"} ! ethmoidal sinus neoplasm property_value: exactMatch DOID:1363 property_value: exactMatch http://identifiers.org/snomedct/363426009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153477 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/C31.1 property_value: exactMatch NCIT:C3541 [Term] id: MONDO:0001764 name: ethmoidal sinus neoplasm alt_id: MONDO:0021215 def: "A benign or malignant neoplasm that affects the ethmoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." [NCIT:C4416] synonym: "ethmoid sinus neoplasm" EXACT [NCIT:C4416] synonym: "ethmoid sinus neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "ethmoid sinus tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4416] synonym: "ethmoid sinus tumour" EXACT OMO:0003005 [] synonym: "ethmoidal sinus neoplasm" EXACT [NCIT:C4416] synonym: "ethmoidal sinus tumor" EXACT [NCIT:C4416] synonym: "ethmoidal sinus tumour" EXACT OMO:0003005 [] synonym: "neoplasm of ethmoid sinus" EXACT [MONDO:patterns/neoplasm, NCIT:C4416] synonym: "neoplasm of ethmoidal sinus" EXACT [NCIT:C4416] synonym: "neoplasm of the ethmoid sinus" EXACT [NCIT:C4416] synonym: "neoplasm of the ethmoidal sinus" EXACT [NCIT:C4416] synonym: "tumor of ethmoid sinus" EXACT [MONDO:patterns/neoplasm, NCIT:C4416] synonym: "tumor of ethmoidal sinus" EXACT [DOID:1364, NCIT:C4416] synonym: "tumor of the ethmoid sinus" EXACT [NCIT:C4416] synonym: "tumor of the ethmoidal sinus" EXACT [NCIT:C4416] synonym: "tumour of ethmoid sinus" EXACT OMO:0003005 [] synonym: "tumour of ethmoidal sinus" EXACT OMO:0003005 [] synonym: "tumour of the ethmoid sinus" EXACT OMO:0003005 [] synonym: "tumour of the ethmoidal sinus" EXACT OMO:0003005 [] xref: DOID:1364 {source="MONDO:equivalentTo"} xref: NCIT:C4416 {source="DOID:1364", source="MONDO:equivalentTo"} xref: SCTID:126677000 {source="DOID:1364", source="MONDO:equivalentTo"} xref: UMLS:C0345668 {source="DOID:1364", source="MONDO:equivalentTo", source="NCIT:C4416"} is_a: EFO:0003866 {source="DOID:1364", source="MONDO:Redundant", source="NCIT:C4416"} ! paranasal sinus neoplasm property_value: exactMatch DOID:1364 property_value: exactMatch http://identifiers.org/snomedct/126677000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345668 property_value: exactMatch NCIT:C4416 [Term] id: MONDO:0001770 name: gastrin secretion abnormality xref: DOID:13656 {source="MONDO:equivalentTo"} xref: ICD9:251.5 {source="DOID:13656", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:47344007 {source="DOID:13656", source="MONDO:equivalentTo"} xref: UMLS:C0000774 {source="DOID:13656", source="MONDO:equivalentTo"} is_a: MONDO:0001933 {source="DOID:13656"} ! endocrine pancreas disorder property_value: exactMatch DOID:13656 property_value: exactMatch http://identifiers.org/snomedct/47344007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0000774 [Term] id: MONDO:0001780 name: premature ejaculation def: "A disorder characterized by persistent or recurrent ejaculation before or after penetration and before the person wishes it." [NCIT:P378] synonym: "premature ejaculation" EXACT [MONDO:ambiguous] synonym: "premature ejaculation (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:13709 {source="MONDO:equivalentTo"} xref: HP:0012876 {source="MONDO:otherHierarchy"} xref: ICD10CM:F52.4 {source="MONDO:equivalentTo", source="DOID:13709"} xref: ICD9:302.75 {source="DOID:13709"} xref: MESH:D061686 {source="MONDO:equivalentTo", source="DOID:13709"} xref: NCIT:C94349 {source="MONDO:equivalentTo", source="DOID:13709"} is_a: MONDO:0000595 {source="DOID:13709/inferred", source="NCIT:C94349"} ! sexual and gender identity disorders property_value: exactMatch DOID:13709 property_value: exactMatch http://identifiers.org/mesh/D061686 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/F52.4 property_value: exactMatch NCIT:C94349 property_value: IAO:0000589 "premature ejaculation (disease)" xsd:string [Term] id: MONDO:0001784 name: malignant renovascular hypertension synonym: "malignant renal artery stenosis" EXACT [] synonym: "malignant renal hypertension" EXACT [] xref: DOID:13730 {source="MONDO:equivalentTo"} is_a: EFO:1002039 ! renal hypertension is_a: MONDO:0000959 {source="DOID:13730"} ! malignant hypertensive renal disease is_a: MONDO:0001785 {source="DOID:13730", source="MONDO:Redundant"} ! malignant secondary hypertension intersection_of: EFO:1001031 ! malignant hypertension intersection_of: EFO:1002039 ! renal hypertension property_value: exactMatch DOID:13730 [Term] id: MONDO:0001785 name: malignant secondary hypertension xref: DOID:13731 {source="MONDO:equivalentTo"} xref: ICD9:405.0 {source="DOID:13731"} xref: ICD9:405.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:89242004 {source="MONDO:equivalentTo", source="DOID:13731"} xref: UMLS:C0155617 {source="MONDO:equivalentTo", source="DOID:13731"} is_a: EFO:1001031 {source="DOID:13731", source="MONDO:Redundant"} ! malignant hypertension is_a: EFO:1002034 {source="DOID:13731", source="MONDO:Redundant"} ! secondary hypertension intersection_of: EFO:1001031 ! malignant hypertension intersection_of: EFO:1002034 ! secondary hypertension property_value: exactMatch DOID:13731 property_value: exactMatch http://identifiers.org/snomedct/89242004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155617 [Term] id: MONDO:0001798 name: hypermobility syndrome synonym: "benign joint hypermobility" EXACT [DOID:13781] xref: DOID:13781 {source="MONDO:equivalentTo"} xref: ICD10CM:M35.7 {source="MONDO:equivalentTo", source="DOID:13781"} xref: ICD9:728.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13781"} xref: SCTID:85551004 {source="MONDO:equivalentTo", source="DOID:13781"} xref: UMLS:C0152093 {source="MONDO:equivalentTo", source="DOID:13781"} is_a: EFO:1000999 {source="DOID:13781"} ! joint disease property_value: exactMatch DOID:13781 property_value: exactMatch http://identifiers.org/snomedct/85551004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152093 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/M35.7 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0001806 name: vaginal squamous tumor def: "A benign or malignant neoplasm that arises from the squamous epithelium of the vagina. Representative examples include condyloma acuminatum, squamous papilloma, and squamous cell carcinoma." [NCIT:P378] synonym: "vagina squamous cell neoplasm" EXACT [MONDO:patterns/location] synonym: "vaginal squamous neoplasm" EXACT [NCIT:C40242] synonym: "vaginal squamous tumor" EXACT [NCIT:C40242] xref: DOID:138 {source="MONDO:equivalentTo"} xref: NCIT:C40242 {source="DOID:138", source="MONDO:equivalentTo"} xref: UMLS:C1519931 {source="DOID:138", source="MONDO:equivalentTo", source="NCIT:C40242"} is_a: EFO:1001447 {source="MONDO:Redundant", source="NCIT:C40242"} ! Vaginal neoplasm is_a: MONDO:0002532 {source="MONDO:Redundant", source="NCIT:C40242"} ! squamous cell neoplasm property_value: exactMatch DOID:138 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519931 property_value: exactMatch NCIT:C40242 [Term] id: MONDO:0001812 name: parasitic eyelid infestation synonym: "parasitic eyelid infestation" EXACT [] synonym: "parasitic infestation of eyelid" EXACT [DOID:13823, ICD9CM:373.6] xref: DOID:13823 {source="MONDO:equivalentTo"} xref: ICD9:373.6 {source="DOID:13823", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:193922006 {source="DOID:13823", source="MONDO:equivalentTo"} xref: UMLS:C0155183 {source="DOID:13823", source="MONDO:equivalentTo"} is_a: EFO:0009536 {source="DOID:13823"} ! blepharitis is_a: MONDO:0020947 ! parasitic eye infection property_value: exactMatch DOID:13823 property_value: exactMatch http://identifiers.org/snomedct/193922006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155183 [Term] id: MONDO:0001815 name: extrapyramidal and movement disease xref: DOID:13839 {source="MONDO:equivalentTo"} xref: ICD10CM:G20-G26 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="DOID:13839", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:333.90 {source="DOID:13839"} xref: UMLS:C0477355 {source="DOID:13839", source="MONDO:equivalentTo"} is_a: EFO:0004280 {source="DOID:13839"} ! movement disorder property_value: exactMatch DOID:13839 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0477355 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G20-G26 [Term] id: MONDO:0001822 name: hypolipoproteinemia def: "Conditions with abnormally low levels of lipoproteins in the blood. This may involve any of the lipoprotein subclasses, including alpha-lipoproteins (high-density lipoproteins); beta-lipoproteins (low-density lipoproteins); and prebeta-lipoproteins (very-low-density lipoproteins)." [MESH:D007009] synonym: "hypolipoproteinaemia" EXACT [DOID:1387] synonym: "hypolipoproteinemia" EXACT [MONDO:ambiguous] synonym: "hypolipoproteinemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "lipoprotein deficiencies" RELATED [DOID:1387, ICD9CM:272.5] xref: DOID:1387 {source="MONDO:equivalentTo"} xref: HP:0010981 {source="MONDO:otherHierarchy"} xref: ICD9:272.5 {source="DOID:1387"} xref: MESH:D007009 {source="DOID:1387", source="MONDO:equivalentTo"} xref: SCTID:363140000 {source="DOID:1387", source="MONDO:equivalentTo"} is_a: MONDO:0002525 {source="DOID:1387"} ! inherited lipid metabolism disorder property_value: exactMatch DOID:1387 property_value: exactMatch http://identifiers.org/mesh/D007009 property_value: exactMatch http://identifiers.org/snomedct/363140000 property_value: IAO:0000589 "hypolipoproteinemia (disease)" xsd:string [Term] id: MONDO:0001823 name: sick sinus syndrome def: "A constellation of signs and symptoms which may include syncope, fatigue, dizziness, and alternating periods of bradycardia and atrial tachycardia, which is caused by sinoatrial node dysfunction." [NCIT:P378] synonym: "sinus node infection" EXACT [DOID:13884] synonym: "SSS" EXACT ABBREVIATION [NCIT:C62244] xref: DOID:13884 {source="MONDO:equivalentTo"} xref: ICD10CM:I49.5 {source="MONDO:equivalentTo", source="DOID:13884"} xref: MESH:D012804 {source="MONDO:equivalentTo", source="DOID:13884"} xref: NCIT:C62244 {source="MONDO:equivalentTo", source="DOID:13884"} xref: SCTID:36083008 {source="MONDO:equivalentTo", source="DOID:13884"} is_a: MONDO:0000469 {source="DOID:13884"} ! sinoatrial node disorder is_a: MONDO:0002254 {source="NCIT:C62244"} ! syndromic disease property_value: exactMatch DOID:13884 property_value: exactMatch http://identifiers.org/mesh/D012804 property_value: exactMatch http://identifiers.org/snomedct/36083008 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/I49.5 property_value: exactMatch NCIT:C62244 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0001828 name: acquired color blindness def: "Non-heritable difficulty in distinguishing colors." [NCIT:P378] synonym: "acquired color vision deficiencies" EXACT [DOID:13912, ICD9CM:368.55] synonym: "acquired color vision deficiency" EXACT [DOID:13912] synonym: "acquired color vision disorder" EXACT [MONDO:patterns/acquired] synonym: "acquired colour vision deficiencies" EXACT OMO:0003005 [] synonym: "acquired colour vision deficiency" EXACT OMO:0003005 [] synonym: "acquired colour vision disorder" EXACT OMO:0003005 [] xref: DOID:13912 {source="MONDO:equivalentTo"} xref: ICD10CM:H53.52 {source="DOID:13912", source="MONDO:equivalentTo"} xref: ICD9:368.55 {source="DOID:13912", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C118712 {source="DOID:13912", source="MONDO:equivalentTo"} xref: SCTID:71676008 {source="DOID:13912", source="MONDO:equivalentTo"} is_a: MONDO:0001703 {source="DOID:13912", source="MONDO:Redundant", source="NCIT:C118712"} ! color vision disorder intersection_of: MONDO:0001703 ! color vision disorder intersection_of: has_characteristic MONDO:0021141 ! acquired relationship: has_characteristic MONDO:0021141 ! acquired property_value: exactMatch DOID:13912 property_value: exactMatch http://identifiers.org/snomedct/71676008 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H53.52 property_value: exactMatch NCIT:C118712 [Term] id: MONDO:0001829 name: lumbosacral plexus lesion def: "A nerve plexus disease that involves the lumbosacral nerve plexus." [MONDO:design_pattern] synonym: "lumbosacral nerve plexus nerve plexus disease" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "lumbosacral plexus lesions" EXACT [DOID:13913, ICD9CM:353.1] synonym: "nerve plexus disease of lumbosacral nerve plexus" EXACT [MONDO:design_pattern] xref: DOID:13913 {source="MONDO:equivalentTo"} xref: ICD9:353.1 {source="DOID:13913", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:4062006 {source="DOID:13913", source="MONDO:equivalentTo"} xref: UMLS:C0154735 {source="DOID:13913", source="MONDO:equivalentTo"} is_a: EFO:0009559 {source="MONDO:Redundant"} ! nerve plexus disease property_value: exactMatch DOID:13913 property_value: exactMatch http://identifiers.org/snomedct/4062006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154735 [Term] id: MONDO:0001834 name: visual pathway disorder def: "A disorder of the neural pathway from the optic nerve to the visual cortex." [NCIT:C35342] comment: Editor note: see notes on uberon class, different sources are more or less inclusive on where the ends of the tract/pathway are. DO is very inclusive and includes entire visual cortex; NCIT does not include any subclasses. Consider using a more generic concept than optic tract synonym: "disease of optic tract" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of optic tract" EXACT [] synonym: "disorder of optic tract" EXACT [MONDO:patterns/location_top] synonym: "optic tract disease" EXACT [MONDO:patterns/location] synonym: "optic tract disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "optic tract disorder" RELATED [] synonym: "visual pathway disorder" EXACT [NCIT:C35342] xref: DOID:1393 {source="MONDO:equivalentTo"} xref: ICD10CM:H47.9 {source="DOID:1393", source="MONDO:equivalentToUnspecified"} xref: NCIT:C35342 {source="MONDO:equivalentTo", source="DOID:1393"} xref: SCTID:54767005 {source="MONDO:equivalentTo", source="DOID:1393"} xref: SCTID:95776004 {source="MONDO:equivalentTo"} xref: UMLS:C0155287 {source="NCIT:C35342", source="MONDO:equivalentTo", source="DOID:1393"} is_a: EFO:0005774 ! brain disease is_a: MONDO:0021084 {source="NCIT:C35342"} ! vision disorder property_value: exactMatch DOID:1393 property_value: exactMatch http://identifiers.org/snomedct/54767005 property_value: exactMatch http://identifiers.org/snomedct/95776004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155287 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H47.9 property_value: exactMatch NCIT:C35342 property_value: excluded_subClassOf MONDO:0005328 {source="DOID:1393"} [Term] id: MONDO:0001835 name: facial paralysis def: "Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. facial nerve diseases generally results in generalized hemifacial weakness. neuromuscular junction diseases and muscular diseases may also cause facial paralysis or paresis." [MESH:D005158] synonym: "face palsy" EXACT [MONDO:patterns/location] synonym: "facial palsy" EXACT [DOID:13934, NCIT:C26769] synonym: "palsy of face" EXACT [MONDO:design_pattern] xref: DOID:13934 {source="MONDO:equivalentTo"} xref: MESH:D005158 {source="DOID:13934", source="MONDO:equivalentTo"} xref: SCTID:280816001 {source="DOID:13934", source="MONDO:equivalentTo"} xref: UMLS:C0015469 {source="DOID:13934", source="MONDO:equivalentTo"} is_a: EFO:1000631 {source="MESH:D005158", source="MONDO:Entailed", source="MONDO:Redundant"} ! palsy property_value: exactMatch DOID:13934 property_value: exactMatch http://identifiers.org/mesh/D005158 property_value: exactMatch http://identifiers.org/snomedct/280816001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015469 [Term] id: MONDO:0001841 name: uterine corpus epithelioid leiomyoma def: "A morphologic variant of uterine corpus leiomyoma characterized by the presence of round or polygonal epithelioid smooth muscle cells forming clusters." [NCIT:C40164] xref: DOID:13951 {source="MONDO:equivalentTo"} xref: NCIT:C40164 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:13951"} xref: UMLS:C1519850 {source="MONDO:equivalentTo", source="NCIT:C40164", source="DOID:13951"} is_a: EFO:0000731 {source="DOID:13951", source="NCIT:C40164"} ! uterine fibroid property_value: exactMatch DOID:13951 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519850 property_value: exactMatch NCIT:C40164 [Term] id: MONDO:0001847 name: nuclear senile cataract def: "A senile cataract that involves the lens nucleus." [MONDO:design_pattern] synonym: "lens nucleus senile cataract" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "senile cataract of lens nucleus" EXACT [MONDO:design_pattern] synonym: "Senile nuclear cataract" EXACT [DOID:13963] synonym: "Senile nuclear sclerosis" EXACT [DOID:13963, ICD9CM:366.16] xref: DOID:13963 {source="MONDO:equivalentTo"} xref: ICD9:366.16 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13963"} xref: SCTID:193589009 {source="MONDO:equivalentTo", source="DOID:13963"} is_a: MONDO:0004847 {source="DOID:13963", source="MONDO:Redundant"} ! senile cataract is_a: MONDO:0045050 ! nuclear cataract property_value: exactMatch DOID:13963 property_value: exactMatch http://identifiers.org/snomedct/193589009 [Term] id: MONDO:0001852 name: small intestine lymphoma def: "A non-Hodgkin or Hodgkin lymphoma that arises from the small intestine." [NCIT:P378] synonym: "lymphoma of small bowel" EXACT [NCIT:C4007] synonym: "lymphoma of small intestine" EXACT [NCIT:C4007] synonym: "lymphoma of the small bowel" EXACT [NCIT:C4007] synonym: "lymphoma of the small intestine" EXACT [NCIT:C4007] synonym: "primary small intestinal lymphoma" EXACT [NCIT:C4007] synonym: "small bowel lymphoma" EXACT [NCIT:C4007] synonym: "small intestinal lymphoma" EXACT [DOID:13996, NCIT:C4007] synonym: "small intestine lymphoma" EXACT [MONDO:patterns/location, NCIT:C4007] xref: DOID:13996 {source="MONDO:equivalentTo"} xref: ICD9:202.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4007 {source="MONDO:equivalentTo", source="DOID:13996"} xref: SCTID:449074003 {source="MONDO:equivalentTo", source="DOID:13996"} xref: UMLS:C0278805 {source="MONDO:equivalentTo", source="NCIT:C4007", source="DOID:13996"} is_a: MONDO:0000956 {source="DOID:13996", source="MONDO:Redundant", source="NCIT:C4007"} ! small intestine cancer is_a: MONDO:0004699 {source="MONDO:Redundant", source="NCIT:C4007"} ! gastrointestinal lymphoma property_value: exactMatch DOID:13996 property_value: exactMatch http://identifiers.org/snomedct/449074003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278805 property_value: exactMatch NCIT:C4007 [Term] id: MONDO:0001858 name: Tietze syndrome def: "Idiopathic painful nonsuppurative swellings of one or more costal cartilages, especially of the second rib. The anterior chest pain may mimic that of coronary artery disease." [MESH:D013991] synonym: "Chondropathia tuberosa" RELATED [GARD:0010100] synonym: "Costalchondritis" EXACT [DOID:14021] synonym: "costochondral joint syndromic disease" EXACT [MONDO:patterns/location] synonym: "costochondral junction syndrome" EXACT [DOID:14021] synonym: "Costochondritis" EXACT [DOID:14021] synonym: "slipping rib syndrome" EXACT [DOID:14021] synonym: "syndromic disease of costochondral joint" EXACT [MONDO:design_pattern] synonym: "Tietze syndrome" EXACT [DOID:14021] synonym: "Tietze's disease" EXACT [DOID:14021, ICD9CM:733.6] synonym: "Tietze's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] xref: DOID:14021 {source="MONDO:equivalentTo"} xref: ICD9:733.6 {source="DOID:14021", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D013991 {source="DOID:14021", source="MONDO:equivalentTo"} xref: NCIT:C168333 {source="MONDO:equivalentTo"} xref: SCTID:30128009 {source="DOID:14021", source="MONDO:equivalentTo"} xref: UMLS:C0040213 {source="DOID:14021", source="MONDO:equivalentTo"} is_a: EFO:1000999 ! joint disease is_a: MONDO:0002254 {source="DOID:14021", source="MONDO:Redundant"} ! syndromic disease property_value: exactMatch DOID:14021 property_value: exactMatch http://identifiers.org/mesh/D013991 property_value: exactMatch http://identifiers.org/snomedct/30128009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040213 property_value: exactMatch NCIT:C168333 [Term] id: MONDO:0001859 name: algoneurodystrophy xref: DOID:14022 {source="MONDO:equivalentTo"} xref: ICD10CM:M89.0 {source="MONDO:equivalentTo", source="DOID:14022"} xref: ICD9:733.7 {source="DOID:14022", source="MONDO:directSiblingOf"} is_a: EFO:1001998 {source="DOID:14022"} ! complex regional pain syndrome property_value: exactMatch DOID:14022 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/M89.0 [Term] id: MONDO:0001878 name: acquired hypertrophic pyloric stenosis def: "An instance of hypertrophic pyloric stenosis that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] synonym: "acquired gastric outlet stenosis" EXACT [DOID:14099] synonym: "acquired hypertrophic pyloric stenosis" EXACT [DOID:14099, MONDO:patterns/acquired] synonym: "adult hypertrophic pyloric stenosis" EXACT [DOID:14099] xref: DOID:14099 {source="MONDO:equivalentTo"} xref: ICD9:537.0 {source="DOID:14099"} xref: SCTID:266438007 {source="MONDO:equivalentTo"} xref: UMLS:C2937286 {source="MONDO:equivalentTo"} is_a: EFO:0004707 ! infantile hypertrophic pyloric stenosis intersection_of: EFO:0004707 ! infantile hypertrophic pyloric stenosis intersection_of: has_characteristic MONDO:0021141 ! acquired relationship: has_characteristic MONDO:0021141 ! acquired property_value: exactMatch DOID:14099 property_value: exactMatch http://identifiers.org/snomedct/266438007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2937286 [Term] id: MONDO:0001879 name: anus cancer def: "A malignant neoplasm involving the anus" [https://orcid.org/0000-0002-6601-2165] synonym: "anus cancer" EXACT [MONDO:patterns/location] synonym: "cancer of anus" EXACT [MONDO:patterns/cancer] synonym: "malignant anal neoplasm" EXACT [NCIT:C7379] synonym: "malignant anal tumor" EXACT [DOID:14110, NCIT:C7379] synonym: "malignant anal tumour" EXACT OMO:0003005 [] synonym: "malignant anus neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of anus" EXACT [MONDO:patterns/cancer, NCIT:C7379] synonym: "malignant neoplasm of the anus" EXACT [NCIT:C7379] synonym: "malignant tumor of anus" EXACT [NCIT:C7379] synonym: "malignant tumor of the anus" EXACT [NCIT:C7379] synonym: "malignant tumour of anus" EXACT OMO:0003005 [] synonym: "malignant tumour of the anus" EXACT OMO:0003005 [] xref: DOID:14110 {source="MONDO:equivalentTo"} xref: ICD9:154.2 {source="MONDO:relatedTo", source="DOID:14110"} xref: ICD9:154.3 {source="DOID:14110"} xref: NCIT:C7379 {source="MONDO:equivalentTo", source="DOID:14110"} xref: SCTID:363352004 {source="MONDO:relatedTo", source="DOID:14110"} xref: UMLS:C0153445 {source="MONDO:relatedTo", source="DOID:14110"} is_a: EFO:0003835 {source="MONDO:Redundant", source="NCIT:C7379"} ! anal neoplasm is_a: EFO:1000657 ! rectum cancer property_value: exactMatch DOID:14110 property_value: exactMatch NCIT:C7379 [Term] id: MONDO:0001896 name: obstructive hydrocephalus def: "An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of an obstruction at any location within the ventricular system that prevents cerebrospinal fluid flowing into the subarachnoid space." [NCIT:P378] synonym: "non-communicating hydrocephalus" EXACT [NCIT:C116347] xref: DOID:14159 {source="MONDO:equivalentTo"} xref: ICD10CM:G91.1 {source="MONDO:equivalentTo", source="DOID:14159"} xref: ICD9:331.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14159"} xref: NCIT:C116347 {source="MONDO:equivalentTo", source="DOID:14159"} xref: SCTID:230746009 {source="MONDO:equivalentTo", source="DOID:14159"} xref: UMLS:C0549423 {source="MONDO:equivalentTo", source="NCIT:C116347", source="DOID:14159"} is_a: EFO:0005774 ! brain disease property_value: exactMatch DOID:14159 property_value: exactMatch http://identifiers.org/snomedct/230746009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0549423 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G91.1 property_value: exactMatch NCIT:C116347 [Term] id: MONDO:0001898 name: optic choroid disorder def: "A disease involving the optic choroid." [https://orcid.org/0000-0002-6601-2165] synonym: "choroid disease" RELATED [DOID:1417] synonym: "choroid disorder" EXACT [NCIT:C34468] synonym: "disease of optic choroid" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of optic choroid" EXACT [] synonym: "disorder of optic choroid" EXACT [MONDO:patterns/location_top] synonym: "optic choroid disease" EXACT [MONDO:patterns/location] synonym: "optic choroid disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:1417 {source="MONDO:equivalentTo"} xref: ICD9:363.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:363.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1417"} xref: MESH:D015862 {source="MONDO:equivalentTo", source="DOID:1417"} xref: NCIT:C34468 {source="MONDO:equivalentTo", source="DOID:1417"} xref: SCTID:128468007 {source="MONDO:equivalentTo"} xref: UMLS:C0008521 {source="MONDO:equivalentTo", source="NCIT:C34468", source="DOID:1417"} is_a: EFO:0005753 ! ocular vascular disease is_a: MONDO:0002661 {source="DOID:1417", source="MESH:D015862", source="MONDO:Redundant", source="NCIT:C34468"} ! uveal disorder property_value: exactMatch DOID:1417 property_value: exactMatch http://identifiers.org/mesh/D015862 property_value: exactMatch http://identifiers.org/snomedct/128468007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008521 property_value: exactMatch NCIT:C34468 [Term] id: MONDO:0001902 name: congenital agammaglobulinemia def: "An instance of agammaglobulinemia that is present from birth." [MONDO:patterns/congenital] synonym: "congenital agammaglobulinemia" EXACT [MONDO:patterns/congenital] synonym: "congenital hypogammaglobulinaemia" EXACT [DOID:14177] synonym: "congenital hypogammaglobulinemia (finding)" EXACT [DOID:14177] xref: DOID:14177 {source="MONDO:equivalentTo"} xref: ICD9:279.04 {source="DOID:14177"} xref: UMLS:C1457897 {source="MONDO:equivalentTo", source="DOID:14177"} is_a: MONDO:0009332 ! congenital hematological disorder is_a: MONDO:0015977 ! agammaglobulinemia intersection_of: MONDO:0015977 ! agammaglobulinemia intersection_of: has_characteristic MONDO:0021140 ! congenital property_value: exactMatch DOID:14177 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1457897 property_value: excluded_subClassOf MONDO:0002211 {source="DOID:14177"} [Term] id: MONDO:0001903 name: calcific tendinitis xref: DOID:14181 {source="MONDO:equivalentTo"} xref: ICD10CM:M65.2 {source="MONDO:equivalentTo"} xref: ICD9:726.11 {source="DOID:14181"} xref: SCTID:95414005 {source="MONDO:equivalentTo"} xref: UMLS:C0521515 {source="MONDO:equivalentTo"} is_a: MONDO:0004857 {source="DOID:14181"} ! tendinitis property_value: exactMatch DOID:14181 property_value: exactMatch http://identifiers.org/snomedct/95414005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0521515 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/M65.2 [Term] id: MONDO:0001909 name: renal tubular acidosis def: "A group of genetic disorders of the kidney tubules characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. Defective renal acidification of urine (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as hypokalemia, hypercalcinuria with nephrolithiasis and nephrocalcinosis, and rickets." [MESH:D000141] subset: gard_rare {source="GARD:0007552"} xref: DOID:14219 {source="MONDO:equivalentTo"} xref: ICD9:588.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D000141 {source="DOID:14219", source="MONDO:equivalentTo"} xref: SCTID:1776003 {source="DOID:14219", source="MONDO:equivalentTo"} xref: UMLS:C0001126 {source="DOID:14219", source="MONDO:equivalentTo"} is_a: EFO:0009566 ! renal tubule disease is_a: EFO:1000014 ! acidosis is_a: EFO:1000647 {source="DOID:14219", source="MESH:D000141"} ! renal tubular transport disease property_value: exactMatch DOID:14219 property_value: exactMatch http://identifiers.org/mesh/D000141 property_value: exactMatch http://identifiers.org/snomedct/1776003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001126 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7552/renal-tubular-acidosis xsd:anyURI {source="GARD:0007552"} [Term] id: MONDO:0001926 name: ureteral disorder def: "A non-neoplastic or neoplastic disorder affecting the ureter." [NCIT:P378] synonym: "disease of ureter" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of ureter" EXACT [] synonym: "disorder of ureter" EXACT [MONDO:patterns/location_top] synonym: "ureter disease" EXACT [MONDO:patterns/location] synonym: "ureter disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "ureter disorder" EXACT [NCIT:C27148] synonym: "ureteric disease" EXACT [NCIT:C27148] synonym: "ureteric disorder" EXACT [NCIT:C27148] xref: DOID:1426 {source="MONDO:equivalentTo"} xref: MESH:D014515 {source="MONDO:equivalentTo", source="DOID:1426"} xref: NCIT:C27148 {source="MONDO:equivalentTo", source="DOID:1426"} xref: SCTID:128073008 {source="MONDO:equivalentTo"} xref: UMLS:C0041954 {source="MONDO:equivalentTo", source="DOID:1426"} xref: UMLS:C0403608 {source="MONDO:equivalentTo"} is_a: EFO:0009690 {source="DOID:1426", source="MESH:D014515", source="MONDO:Redundant", source="NCIT:C27148"} ! urinary system disease property_value: exactMatch DOID:1426 property_value: exactMatch http://identifiers.org/mesh/D014515 property_value: exactMatch http://identifiers.org/snomedct/128073008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041954 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0403608 property_value: exactMatch NCIT:C27148 [Term] id: MONDO:0001933 name: endocrine pancreas disorder def: "A disease involving the endocrine pancreas." [https://orcid.org/0000-0002-6601-2165] synonym: "disease of endocrine pancreas" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of endocrine pancreas" EXACT [] synonym: "disorder of endocrine pancreas" EXACT [MONDO:patterns/location_top] synonym: "disorder of islets of langerhans" RELATED [] synonym: "disorder of pancreatic islets" RELATED [] synonym: "endocrine pancreas disease" EXACT [MONDO:patterns/location, NCIT:C27067] synonym: "endocrine pancreas disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "endocrine pancreas disorder" EXACT [NCIT:C27067] xref: DOID:1428 {source="MONDO:equivalentTo"} xref: ICD9:251 {source="DOID:1428"} xref: NCIT:C27067 {source="MONDO:equivalentTo"} xref: SCTID:17346000 {source="MONDO:equivalentTo"} xref: UMLS:C0271633 {source="NCIT:C27067", source="MONDO:equivalentTo"} is_a: EFO:0009605 {source="DOID:1428", source="MONDO:Redundant", source="NCIT:C27067"} ! pancreas disease property_value: exactMatch DOID:1428 property_value: exactMatch http://identifiers.org/snomedct/17346000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271633 property_value: exactMatch NCIT:C27067 [Term] id: MONDO:0001938 name: vulvar dystrophy def: "A non-neoplastic lesion that affects the vulva and is characterized by thinning or thickening of the skin and dryness." [NCIT:P378] synonym: "dystrophy of vulva" EXACT [DOID:14292] xref: DOID:14292 {source="MONDO:equivalentTo"} xref: ICD9:624.0 {source="DOID:14292", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:624.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C34565 {source="DOID:14292", source="MONDO:equivalentTo"} xref: SCTID:51689003 {source="DOID:14292", source="MONDO:equivalentTo"} xref: UMLS:C0013426 {source="DOID:14292", source="MONDO:equivalentTo", source="NCIT:C34565"} is_a: MONDO:0002187 {source="DOID:14292", source="NCIT:C34565/inferred"} ! vulvar disease property_value: exactMatch DOID:14292 property_value: exactMatch http://identifiers.org/snomedct/51689003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013426 property_value: exactMatch NCIT:C34565 [Term] id: MONDO:0001941 name: blindness (disorder) def: "The lack of vision. It is caused by neurological or physiological factors." [NCIT:C97109] synonym: "blindness" RELATED [DOID:1432] synonym: "vision impairment" EXACT [DOID:1432] synonym: "vision loss" EXACT [DOID:1432] synonym: "visual impairment" EXACT [DOID:1432] xref: DOID:1432 {source="MONDO:equivalentTo"} xref: ICD10CM:H54 {source="MONDO:equivalentTo"} xref: ICD9:369 {source="DOID:1432"} xref: MESH:D001766 {source="MONDO:equivalentTo"} xref: NCIT:C97109 {source="MONDO:equivalentTo"} xref: SCTID:105597003 {source="MONDO:equivalentTo"} is_a: MONDO:0021084 {source="MESH:D001766", source="MONDO:Redundant", source="NCIT:C97109", source="NCIT:C97109/inferred"} ! vision disorder property_value: exactMatch DOID:1432 property_value: exactMatch http://identifiers.org/mesh/D001766 property_value: exactMatch http://identifiers.org/snomedct/105597003 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H54 property_value: exactMatch NCIT:C97109 property_value: excluded_subClassOf MONDO:0005283 {source="DOID:1432"} [Term] id: MONDO:0001949 name: acute thyroiditis def: "Acute form of thyroiditis (disease)." [MONDO:patterns/acute] synonym: "acute thyroiditis (disease)" EXACT [] synonym: "thyroiditis (disease), acute" EXACT [MONDO:patterns/acute] xref: DOID:14353 {source="MONDO:equivalentTo"} xref: ICD10CM:E06.0 {source="MONDO:equivalentTo", source="DOID:14353"} xref: ICD9:245.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14353"} xref: SCTID:190293001 {source="MONDO:equivalentTo", source="DOID:14353"} xref: UMLS:C0001360 {source="MONDO:equivalentTo", source="DOID:14353"} is_a: MONDO:0004126 {source="DOID:14353", source="MONDO:Redundant"} ! thyroiditis is_a: MONDO:0020683 ! acute disease property_value: exactMatch DOID:14353 property_value: exactMatch http://identifiers.org/snomedct/190293001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001360 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E06.0 [Term] id: MONDO:0001955 name: protozoal dysentery def: "A dysentery that involves protozoan infection." [DOID:14397, http://en.wikipedia.org/wiki/Dysentery] xref: DOID:14397 {source="MONDO:equivalentTo"} xref: ICD9:007.8 {source="DOID:14397"} is_a: EFO:0009561 ! parasitic intestinal disease is_a: EFO:1001869 {source="DOID:14397", source="MONDO:Entailed", source="MONDO:Redundant"} ! dysentery is_a: MONDO:0002428 {source="MONDO:Redundant", source="MONDO:cjm"} ! protozoa infectious disease intersection_of: EFO:1001869 ! dysentery intersection_of: MONDO:0002428 ! protozoa infectious disease property_value: exactMatch DOID:14397 [Term] id: MONDO:0001967 name: gonadal dysgenesis def: "A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics." [NCIT:C61420] subset: gard_rare {source="GARD:0002538"} synonym: "gonadal dysgenesis syndrome" EXACT [DOID:14447] xref: DOID:14447 {source="MONDO:equivalentTo"} xref: ICD9:758.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14447"} xref: MESH:D006059 {source="MONDO:equivalentTo", source="DOID:14447"} xref: NCIT:C61420 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:14447"} xref: SCTID:205681004 {source="MONDO:equivalentTo", source="DOID:14447"} is_a: MONDO:0002146 {source="DOID:14447"} ! hypogonadism property_value: exactMatch DOID:14447 property_value: exactMatch http://identifiers.org/mesh/D006059 property_value: exactMatch http://identifiers.org/snomedct/205681004 property_value: exactMatch NCIT:C61420 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2538/gonadal-dysgenesis xsd:anyURI {source="GARD:0002538"} [Term] id: MONDO:0001989 name: atrophic glossitis synonym: "atrophy of tongue papillae" EXACT [DOID:1453] synonym: "glossitis, Hunter's" EXACT [DOID:1453] synonym: "Hunter's glossitis" EXACT [DOID:1453] synonym: "smooth atrophic tongue" EXACT [DOID:1453] xref: DOID:1453 {source="MONDO:equivalentTo"} xref: ICD10CM:K14.4 {source="DOID:1453", source="MONDO:equivalentTo"} xref: ICD9:529.4 {source="DOID:1453", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:9491003 {source="DOID:1453", source="MONDO:equivalentTo"} xref: UMLS:C0155964 {source="DOID:1453", source="MONDO:equivalentTo"} is_a: EFO:1000951 {source="DOID:1453"} ! glossitis property_value: exactMatch DOID:1453 property_value: exactMatch http://identifiers.org/snomedct/9491003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155964 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K14.4 [Term] id: MONDO:0001999 name: primary pulmonary hypertension def: "Increased blood pressure in the arteries of the lungs; the etiology is unknown." [NCIT:P378] synonym: "primary pulmonary hypertension" EXACT [] synonym: "pulmonary hypertension, primary" EXACT [OMIMPS:178600] xref: DOID:14557 {source="MONDO:equivalentTo"} xref: ICD10CM:I27.0 {source="MONDO:equivalentTo", source="DOID:14557"} xref: ICD9:416.0 {source="DOID:14557"} is_a: MONDO:0001493 {source="DOID:14557"} ! chronic pulmonary heart disease property_value: exactMatch DOID:14557 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/I27.0 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002000 name: anaerobic meningitis synonym: "meningitis caused by anaerobic bacteria" EXACT [MONDO:0024404] synonym: "meningitis due to anaerobic bacteria" EXACT [] xref: DOID:14559 {source="MONDO:equivalentTo"} xref: ICD9:320.81 {source="DOID:14559", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:445059005 {source="MONDO:equivalentTo"} xref: UMLS:C0854214 {source="MONDO:equivalentTo"} is_a: EFO:1000831 {source="DOID:14559", source="MONDO:Redundant"} ! bacterial meningitis is_a: MONDO:0024389 {source="MONDO:Redundant"} ! anaerobic bacteria infectious disease intersection_of: EFO:0000584 ! infectious meningitis intersection_of: MONDO:0024389 ! anaerobic bacteria infectious disease property_value: exactMatch DOID:14559 property_value: exactMatch http://identifiers.org/snomedct/445059005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0854214 [Term] id: MONDO:0002003 name: papilledema def: "Swelling around the optic disk, usually due to increased intracranial pressure or pressure on the optic nerve by a tumor." [NCIT:C3307] subset: gard_rare {source="GARD:0007318"} synonym: "Choked disc" RELATED OMO:0003005 [] synonym: "Choked disk" RELATED [GARD:0007318] synonym: "edema of the optic disk" RELATED [GARD:0007318] synonym: "oedema of the optic disc" RELATED OMO:0003005 [] synonym: "papilloedema" EXACT [NCIT:C3307] xref: DOID:146 {source="MONDO:equivalentTo"} xref: ICD9:377.0 {source="DOID:146"} xref: ICD9:377.00 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:146"} xref: ICD9:377.31 {source="MONDO:relatedTo", source="DOID:146"} xref: MESH:D010211 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo", source="DOID:146"} xref: NCIT:C3307 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="MONDO:exact-label-match", source="DOID:146"} xref: SCTID:423341008 {source="MONDO:equivalentTo", source="DOID:146"} xref: SCTID:73221001 {source="MONDO:relatedTo", source="DOID:146"} is_a: MONDO:0002135 {source="DOID:146", source="MESH:D010211"} ! optic nerve disorder property_value: exactMatch DOID:146 property_value: exactMatch http://identifiers.org/mesh/D010211 property_value: exactMatch http://identifiers.org/snomedct/423341008 property_value: exactMatch NCIT:C3307 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5537 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7318/papilledema xsd:anyURI {source="GARD:0007318"} [Term] id: MONDO:0002009 name: major depressive disorder synonym: "MDD" EXACT [] is_a: MONDO:0002050 ! depressive disorder property_value: closeMatch DOID:2848 property_value: exactMatch DOID:1470 property_value: exactMatch http://identifiers.org/mesh/D003865 property_value: exactMatch http://identifiers.org/snomedct/370143000 property_value: exactMatch https://omim.org/entry/608516 property_value: exactMatch NCIT:C35094 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0002012 name: methylmalonic acidemia def: "A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease." [NCIT:C98986] synonym: "methylmalonic acidemia, cblA type" NARROW [DOID:14749] synonym: "methylmalonic acidemia, cblB type" NARROW [DOID:14749] synonym: "methylmalonic aciduria" EXACT [DOID:14749] synonym: "methylmalonic aciduria cblB type" NARROW [DOID:14749] synonym: "methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency" NARROW [DOID:14749] synonym: "methylmalonic aciduria mut type" NARROW [DOID:14749] synonym: "methylmalonic aciduria type cblA" NARROW [DOID:14749] synonym: "methylmalonic aciduria type cblB" NARROW [DOID:14749] synonym: "methylmalonic aciduria, mut type" NARROW [DOID:14749] synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type" NARROW [DOID:14749] synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type" NARROW [DOID:14749] synonym: "METHYLMALONICACIDURIA due to methylmalonic CoA mutase deficiency" NARROW [DOID:14749] synonym: "METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl A" NARROW [DOID:14749] synonym: "METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl B" NARROW [DOID:14749] xref: DOID:14749 {source="MONDO:equivalentTo"} xref: ICD10CM:E71.120 {source="MONDO:equivalentTo"} xref: ICD9:270.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537358 {source="MONDO:equivalentTo"} xref: NCIT:C98986 {source="MONDO:equivalentTo"} xref: SCTID:42393006 {source="MONDO:equivalentTo"} xref: UMLS:C0268583 {source="MONDO:equivalentTo", source="NCIT:C98986"} xref: UMLS:C1855119 {source="MONDO:equivalentTo"} is_a: MONDO:0000688 {source="DOID:14749"} ! inborn organic aciduria property_value: exactMatch DOID:14749 property_value: exactMatch http://identifiers.org/mesh/C537358 property_value: exactMatch http://identifiers.org/snomedct/42393006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268583 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855119 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E71.120 property_value: exactMatch NCIT:C98986 [Term] id: MONDO:0002013 name: lymphangioma def: "A benign lesion composed of dilated lymphatic channels. Painless swelling is the usual clinical manifestation." [NCIT:C8965] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:2415"} synonym: "benign lymphangioma" EXACT [DOID:1475] synonym: "benign lymphangioma (morphologic abnormality)" EXACT [DOID:1475] synonym: "congenital lymphangioma" NARROW [DOID:1475] synonym: "LM" RELATED ABBREVIATION [Orphanet:2415] synonym: "lymphangioma" EXACT [NCIT:C8965, Orphanet:2415] synonym: "lymphangioma, benign" EXACT [NCIT:C8965] xref: DOID:1475 {source="MONDO:equivalentTo"} xref: ICD9:228.1 {source="DOID:1475", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICDO:9170/0 {source="NCIT:C8965"} xref: MESH:D008202 {source="DOID:1475", source="MONDO:equivalentTo"} xref: NCIT:C8965 {source="DOID:1475", source="MONDO:equivalentTo"} xref: Orphanet:2415 {source="MONDO:equivalentTo"} xref: SCTID:254836000 {source="DOID:1475", source="MONDO:equivalentTo"} xref: SCTID:400178008 {source="DOID:1475", source="MONDO:equivalentTo"} xref: UMLS:CN201700 {source="MONDO:equivalentTo"} is_a: MONDO:0000629 ! cardiovascular organ benign neoplasm is_a: MONDO:0036870 ! lymphatic vessel neoplasm is_a: MONDO:0036976 ! benign epithelial neoplasm property_value: exactMatch DOID:1475 property_value: exactMatch http://identifiers.org/mesh/D008202 property_value: exactMatch http://identifiers.org/snomedct/254836000 property_value: exactMatch http://identifiers.org/snomedct/400178008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201700 property_value: exactMatch NCIT:C8965 property_value: exactMatch Orphanet:2415 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002025 name: psychiatric disorder def: "A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia." [NCIT:C2893] subset: rare_grouping synonym: "disease of mental health" NARROW [DOID:150] synonym: "mental disorder" NARROW [NCIT:C2893] synonym: "mental dysfunction" NARROW [NCIT:C2893] synonym: "mental illness" NARROW [NCIT:C2893] synonym: "Psychiatric disease" EXACT [NCIT:C2893] synonym: "Psychiatric disorder" EXACT [NCIT:C2893] xref: DOID:150 {source="MONDO:equivalentTo"} xref: MESH:D001523 {source="DOID:150", source="MONDO:equivalentTo"} xref: MFOMD:0000004 xref: NCIT:C2893 {source="DOID:150", source="MONDO:equivalentTo"} xref: SCTID:74732009 {source="MONDO:relatedTo", source="DOID:150"} is_a: EFO:0000408 ! disease property_value: exactMatch DOID:150 property_value: exactMatch http://identifiers.org/mesh/D001523 property_value: exactMatch NCIT:C2893 property_value: excluded_subClassOf MONDO:0005071 {source="ISBN-13:978-1-259-64403-0"} property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002026 name: candidiasis def: "Infection with the organism Candida." [NCIT:P378] synonym: "Candida infection" EXACT [MONDO:patterns/infectious_disease_by_agent] synonym: "Candida infection" EXACT [NCIT:C26711] synonym: "Candidosis" EXACT [NCIT:C26711] synonym: "disseminated candidiasis" NARROW [DOID:1508, ICD9CM:112.5] synonym: "infections, Candida " RELATED [MONDO:patterns/infectious_disease_by_agent] synonym: "systemic candidiasis" NARROW [DOID:1508] synonym: "thrush" EXACT [NCIT:C26711] xref: DOID:1508 {source="MONDO:equivalentTo"} xref: ICD10CM:B37 {source="MONDO:equivalentTo", source="DOID:1508"} xref: ICD9:112 {source="DOID:1508"} xref: ICD9:112.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:112.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1508"} xref: MESH:D002177 {source="MONDO:equivalentTo", source="DOID:1508"} xref: NCIT:C26711 {source="MONDO:equivalentTo", source="DOID:1508"} xref: SCTID:78048006 {source="MONDO:equivalentTo", source="DOID:1508"} xref: UMLS:C0006840 {source="MONDO:equivalentTo", source="NCIT:C26711", source="DOID:1508"} is_a: MONDO:0002312 {source="DOID:1508", source="MONDO:Redundant"} ! opportunistic mycosis property_value: exactMatch DOID:1508 property_value: exactMatch http://identifiers.org/mesh/D002177 property_value: exactMatch http://identifiers.org/snomedct/78048006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006840 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B37 property_value: exactMatch NCIT:C26711 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002028 name: personality disorder def: "A diverse category of psychiatric disorders characterized by behavior that deviates markedly from the expectations of the individual's culture; this pattern of deviation is pervasive and inflexible and is stable over time. The behavioral pattern negatively interferes with relationships and work." [NCIT:C34922] synonym: "character disorder" EXACT [DOID:1510] synonym: "personality disorder" EXACT [MONDO:ambiguous] synonym: "personality disorder (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:1510 {source="MONDO:equivalentTo"} xref: HP:0012075 {source="MONDO:otherHierarchy"} xref: ICD9:301.8 {source="DOID:1510"} xref: ICD9:301.89 {source="MONDO:relatedTo", source="DOID:1510", source="MONDO:i2s"} xref: ICD9:301.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C34922 {source="MONDO:equivalentTo"} xref: SCTID:33449004 {source="MONDO:equivalentTo"} is_a: MONDO:0002025 {source="DOID:1510", source="NCIT:C34922"} ! psychiatric disorder property_value: exactMatch DOID:1510 property_value: exactMatch http://identifiers.org/snomedct/33449004 property_value: exactMatch NCIT:C34922 property_value: IAO:0000589 "personality disorder (disease)" xsd:string [Term] id: MONDO:0002031 name: cecal disorder def: "Pathological developments in the cecum." [MESH:D002429] synonym: "caecum disease" EXACT [MONDO:patterns/location] synonym: "caecum disease or disorder" EXACT [MONDO:patterns/location] synonym: "disease of caecum" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of caecum" EXACT [] synonym: "disorder of caecum" EXACT [MONDO:patterns/location_top] xref: DOID:1518 {source="MONDO:equivalentTo"} xref: MESH:D002429 {source="MONDO:equivalentTo", source="DOID:1518"} xref: SCTID:128525008 {source="MONDO:equivalentTo", source="DOID:1518"} xref: UMLS:C0007527 {source="MONDO:equivalentTo", source="DOID:1518"} is_a: MONDO:0003409 ! colonic disorder property_value: exactMatch DOID:1518 property_value: exactMatch http://identifiers.org/mesh/D002429 property_value: exactMatch http://identifiers.org/snomedct/128525008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007527 [Term] id: MONDO:0002033 name: cecum cancer def: "A malignant neoplasm involving the caecum" [https://orcid.org/0000-0002-6601-2165] synonym: "caecum cancer" EXACT [MONDO:patterns/location] synonym: "cancer of caecum" EXACT [MONDO:patterns/cancer] synonym: "malignant caecum neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant cecum neoplasm" EXACT [NCIT:C9329] synonym: "malignant cecum tumor" EXACT [NCIT:C9329] synonym: "malignant cecum tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of caecum" EXACT [DOID:1521, MONDO:patterns/cancer] synonym: "malignant neoplasm of cecum" EXACT [NCIT:C9329] synonym: "malignant neoplasm of the cecum" EXACT [NCIT:C9329] synonym: "malignant tumor of cecum" EXACT [NCIT:C9329] synonym: "malignant tumor of the cecum" EXACT [DOID:1521, NCIT:C9329] synonym: "malignant tumour of cecum" EXACT OMO:0003005 [] synonym: "malignant tumour of the cecum" EXACT OMO:0003005 [] xref: DOID:1521 {source="MONDO:equivalentTo"} xref: ICD9:153.4 {source="DOID:1521"} xref: NCIT:C9329 {source="MONDO:equivalentTo", source="DOID:1521"} xref: UMLS:C0153437 {source="MONDO:equivalentTo", source="DOID:1521", source="NCIT:C9329"} is_a: EFO:0009255 {source="MONDO:Redundant", source="NCIT:C9329"} ! cecal neoplasm is_a: MONDO:0021063 {source="MONDO:Redundant", source="NCIT:C9329"} ! malignant colon neoplasm property_value: exactMatch DOID:1521 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153437 property_value: exactMatch NCIT:C9329 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002035 name: colon lymphoma def: "An extranodal lymphoma that arises from the colon. The majority are B-cell non-Hodgkin lymphomas." [NCIT:C4793] synonym: "colon lymphoma" EXACT [MONDO:patterns/location, NCIT:C4793] synonym: "colonic lymphoma" EXACT [DOID:1523, NCIT:C4793] synonym: "lymphoma of colon" EXACT [NCIT:C4793] synonym: "lymphoma of the colon" EXACT [NCIT:C4793] synonym: "primary colon lymphoma" EXACT [NCIT:C4793] xref: DOID:1523 {source="MONDO:equivalentTo"} xref: ICD9:202.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4793 {source="MONDO:equivalentTo", source="DOID:1523", source="MONDO:exact-label-match"} xref: SCTID:133751000119102 {source="MONDO:equivalentTo", source="DOID:1523"} xref: UMLS:C0519037 {source="NCIT:C4793", source="MONDO:equivalentTo", source="DOID:1523"} is_a: MONDO:0021063 {source="DOID:1523", source="MONDO:Redundant", source="NCIT:C4793"} ! malignant colon neoplasm is_a: MONDO:0024656 ! colorectal lymphoma property_value: exactMatch DOID:1523 property_value: exactMatch http://identifiers.org/snomedct/133751000119102 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0519037 property_value: exactMatch NCIT:C4793 [Term] id: MONDO:0002036 name: penile disorder def: "A non-neoplastic or neoplastic disorder that affects the penis. Representative examples of non-neoplastic disorders include phimosis, balanitis, and hypospadias. Representative examples of neoplastic disorders include hemangioma, penile intraepithelial neoplasia, and penile carcinoma." [NCIT:P378] synonym: "disease of penis" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of penis" EXACT [] synonym: "disorder of penis" EXACT [MONDO:patterns/location_top] synonym: "penile disease" EXACT [NCIT:C26846] synonym: "penile disorder" EXACT [NCIT:C26846] synonym: "penis disease" EXACT [MONDO:patterns/location] synonym: "penis disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:1529 {source="MONDO:equivalentTo"} xref: ICD9:607.8 {source="DOID:1529"} xref: ICD9:607.89 {source="DOID:1529"} xref: ICD9:607.9 xref: MESH:D010409 {source="MONDO:equivalentTo"} xref: NCIT:C26846 {source="MONDO:equivalentTo"} xref: SCTID:33958003 {source="MONDO:equivalentTo"} xref: UMLS:C0030846 {source="MONDO:equivalentTo", source="NCIT:C26846"} is_a: EFO:0009555 {source="DOID:1529", source="MESH:D010409", source="MONDO:Redundant", source="NCIT:C26846"} ! male reproductive system disease property_value: exactMatch DOID:1529 property_value: exactMatch http://identifiers.org/mesh/D010409 property_value: exactMatch http://identifiers.org/snomedct/33958003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030846 property_value: exactMatch NCIT:C26846 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002037 name: pleural disorder def: "A non-neoplastic or neoplastic disorder that affects the pleura. Representative examples include pleural infection, pleural mesothelioma, and pleural solitary fibrous tumor." [NCIT:P378] synonym: "disease of pleura" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of pleura" EXACT [] synonym: "disorder of pleura" EXACT [DOID:1532, MONDO:patterns/location_top] synonym: "non-neoplastic pleural disease" NARROW [DOID:1532] synonym: "pleura disease" EXACT [MONDO:patterns/location] synonym: "pleura disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "pleural disorder" EXACT [NCIT:C26859] synonym: "pleural disorders" EXACT [NCIT:C26859] xref: DOID:1532 {source="MONDO:equivalentTo"} xref: ICD9:518.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D010995 {source="MONDO:equivalentTo", source="DOID:1532"} xref: NCIT:C26859 {source="MONDO:equivalentTo", source="DOID:1532"} xref: SCTID:88075009 {source="MONDO:equivalentTo", source="DOID:1532"} xref: UMLS:C0032226 {source="MONDO:equivalentTo", source="DOID:1532"} is_a: EFO:0009433 {source="DOID:1532", source="MONDO:Redundant"} ! lower respiratory tract disease property_value: exactMatch DOID:1532 property_value: exactMatch http://identifiers.org/mesh/D010995 property_value: exactMatch http://identifiers.org/snomedct/88075009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032226 property_value: exactMatch NCIT:C26859 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002038 name: head and neck carcinoma def: "A carcinoma that arises from the head and neck region. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." [NCIT:C35850] synonym: "carcinoma of craniocervical region" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of head and neck" EXACT [NCIT:C35850] synonym: "carcinoma of neck" EXACT [DOID:1542, MONDO:patterns/carcinoma] synonym: "carcinoma of the head and neck" EXACT [NCIT:C35850] synonym: "carcinoma of the neck" NARROW [DOID:1542, NCIT:C6077] synonym: "craniocervical region carcinoma" EXACT [MONDO:patterns/location] synonym: "head and neck cancer" RELATED [NCIT:C35850] synonym: "head and neck carcinoma" EXACT [NCIT:C35850] synonym: "neck carcinoma" EXACT [MONDO:patterns/location] xref: DOID:1542 {source="MONDO:equivalentTo"} xref: NCIT:C35850 {source="MONDO:equivalentTo"} xref: UMLS:C1334927 {source="DOID:1542", source="MONDO:equivalentTo"} xref: UMLS:C3887461 {source="MONDO:equivalentTo", source="NCIT:C35850"} is_a: EFO:0000313 {source="MONDO:Redundant", source="NCIT:C35850"} ! carcinoma is_a: EFO:0006859 {source="DOID:1542", source="MONDO:Redundant", source="NCIT:C35850"} ! head and neck malignant neoplasia property_value: exactMatch DOID:1542 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334927 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3887461 property_value: exactMatch NCIT:C35850 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002039 name: cognitive disorder def: "A disease affects cognitive processes." [https://orcid.org/0000-0002-6601-2165] synonym: "cognitive disease" EXACT [DOID:1561] synonym: "cognitive disorder" EXACT [NCIT:C92196] synonym: "organic mental disorder" RELATED [DOID:1561, NCIT:C34870] xref: DOID:0080832 {source="MONDO:mondoIsBroaderThanSource"} xref: DOID:1561 {source="MONDO:equivalentTo"} xref: EFO:1001457 {source="MONDO:equivalentTo"} xref: ICD9:294.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D019965 {source="DOID:1561", source="MONDO:equivalentTo"} xref: NCIT:C92196 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:443265004 {source="MONDO:equivalentTo"} is_a: EFO:0000677 ! mental or behavioural disorder is_a: MONDO:0002025 {source="MESH:D019965", source="MONDO:Redundant", source="NCIT:C92196"} ! psychiatric disorder property_value: exactMatch DOID:1561 property_value: exactMatch http://identifiers.org/mesh/D019965 property_value: exactMatch http://identifiers.org/snomedct/443265004 property_value: exactMatch NCIT:C92196 property_value: gwas:trait "true" xsd:boolean property_value: narrowMatch DOID:0080832 [Term] id: MONDO:0002040 name: dermatomycosis def: "Superficial infections of the skin or its appendages by any of various fungi." [MESH:D003881] xref: DOID:1563 {source="MONDO:equivalentTo"} xref: ICD9:111 {source="DOID:1563"} xref: ICD9:111.9 {source="DOID:1563"} xref: MESH:D003881 {source="DOID:1563", source="MONDO:equivalentTo"} xref: SCTID:47382004 {source="DOID:1563", source="MONDO:directSiblingOf"} xref: UMLS:C0011630 {source="DOID:1563", source="MONDO:equivalentTo"} is_a: MONDO:0000254 {source="DOID:1563"} ! cutaneous mycosis property_value: exactMatch DOID:1563 property_value: exactMatch http://identifiers.org/mesh/D003881 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011630 [Term] id: MONDO:0002041 name: fungal infectious disease def: "An infection caused by a fungus." [NCIT:C3245] synonym: "fungal infection" RELATED [NCIT:C3245] synonym: "Fungi caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Fungi disease or disorder" EXACT [] synonym: "Fungi infection" EXACT [MONDO:patterns/infectious_disease_by_agent] synonym: "Fungi infectious disease" EXACT [] synonym: "infection, fungal" RELATED [NCIT:C3245] synonym: "infections, Fungi" RELATED [MONDO:patterns/infectious_disease_by_agent] synonym: "mycoses" RELATED [DOID:1564] synonym: "mycosis" EXACT [DOID:1564] xref: DOID:1564 {source="MONDO:equivalentTo"} xref: ICD10CM:B35-B49 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="DOID:1564", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:110-118.99 {source="DOID:1564"} xref: ICD9:117.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D009181 {source="DOID:1564", source="MONDO:equivalentTo"} xref: NCIT:C3245 {source="DOID:1564", source="MONDO:equivalentTo"} xref: SCTID:3218000 {source="DOID:1564", source="MONDO:equivalentTo"} is_a: EFO:0005741 {source="DOID:1564", source="ICD10CM:B35-B49", source="MONDO:Redundant", source="NCIT:C3245"} ! infectious disease property_value: exactMatch DOID:1564 property_value: exactMatch http://identifiers.org/mesh/D009181 property_value: exactMatch http://identifiers.org/snomedct/3218000 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B35-B49 property_value: exactMatch NCIT:C3245 [Term] id: MONDO:0002043 name: ectropion def: "The turning outward (eversion) of the edge of the eyelid, resulting in the exposure of the palpebral conjunctiva. (Dorland, 27th ed)" [MESH:D004483] synonym: "ectropion" EXACT [MONDO:ambiguous] synonym: "ectropion (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "ectropion of eyelid" EXACT [DOID:1570] synonym: "everted margin" EXACT [DOID:1570] xref: DOID:1570 {source="MONDO:equivalentTo"} xref: HP:0000656 {source="MONDO:otherHierarchy"} xref: ICD9:374.1 {source="DOID:1570"} xref: ICD9:374.10 {source="DOID:1570", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D004483 {source="DOID:1570", source="MONDO:equivalentTo"} xref: SCTID:62909004 {source="DOID:1570", source="MONDO:equivalentTo"} xref: UMLS:C0013592 {source="DOID:1570", source="MONDO:equivalentTo"} is_a: EFO:0009547 {source="DOID:1570", source="MESH:D004483"} ! eyelid disease property_value: exactMatch DOID:1570 property_value: exactMatch http://identifiers.org/mesh/D004483 property_value: exactMatch http://identifiers.org/snomedct/62909004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013592 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000589 "ectropion (disease)" xsd:string [Term] id: MONDO:0002045 name: communicating hydrocephalus def: "An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of impaired cerebrospinal fluid reabsorption by the arachnoid granulations." [NCIT:P378] synonym: "non-obstructive hydrocephalus" EXACT [NCIT:C34501] xref: DOID:1573 {source="MONDO:equivalentTo"} xref: ICD10CM:G91.0 {source="DOID:1573", source="MONDO:equivalentTo"} xref: ICD9:331.3 {source="DOID:1573", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C34501 {source="DOID:1573", source="MONDO:equivalentTo"} xref: SCTID:271569006 {source="DOID:1573", source="MONDO:equivalentTo"} xref: UMLS:C0009451 {source="DOID:1573", source="MONDO:equivalentTo", source="NCIT:C34501"} is_a: EFO:0005774 ! brain disease property_value: exactMatch DOID:1573 property_value: exactMatch http://identifiers.org/snomedct/271569006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009451 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G91.0 property_value: exactMatch NCIT:C34501 [Term] id: MONDO:0002046 name: alcohol abuse def: "The use of alcoholic beverages to excess, either on individual occasions (\"binge drinking\") or as a regular practice." [NCIT:P378] synonym: "abuse, alcohol" RELATED [MESH:D000437] synonym: "addiction, alcohol" RELATED [MESH:D000437] synonym: "alcohol abuse" EXACT [MESH:D000437] synonym: "alcohol addiction" RELATED [MESH:D000437] synonym: "alcohol dependence" RELATED [MESH:D000437] synonym: "alcohol use disorder" RELATED [DOID:1574] synonym: "alcoholic intoxication, chronic" RELATED [MESH:D000437] synonym: "alcoholism" RELATED [MESH:D000437] synonym: "chronic alcoholic intoxication" RELATED [MESH:D000437] synonym: "dependence, alcohol" RELATED [MESH:D000437] synonym: "ethanol abuse" EXACT [DOID:1574] synonym: "intoxication, chronic alcoholic" RELATED [MESH:D000437] xref: DOID:1574 {source="MONDO:equivalentTo"} xref: ICD9:305.0 {source="DOID:1574"} xref: ICD9:305.00 {source="DOID:1574"} xref: MESH:D000437 {source="DOID:1574", source="MONDO:equivalentTo"} xref: SCTID:15167005 {source="DOID:1574", source="MONDO:equivalentTo"} is_a: MONDO:0002491 {source="DOID:1574", source="MONDO:Redundant"} ! substance abuse is_a: MONDO:0021698 {source="MESH:D000437", source="MONDO:Redundant"} ! alcohol-related disorders property_value: exactMatch DOID:1574 property_value: exactMatch http://identifiers.org/mesh/D000437 property_value: exactMatch http://identifiers.org/snomedct/15167005 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002050 name: depressive disorder def: "A melancholy feeling of sadness and despair." [NCIT:C2982] synonym: "depression" EXACT [NCIT:C2982] synonym: "melancholia" RELATED [MESH:D003866] synonym: "melancholias" RELATED [MESH:D003866] synonym: "mental depression" EXACT [DOID:1596] synonym: "syndrome, depressive" RELATED [MESH:D003866] synonym: "syndromes, depressive" RELATED [MESH:D003866] xref: DOID:1596 {source="MONDO:equivalentTo"} xref: ICD10CM:F32 {source="MONDO:equivalentTo"} xref: ICD9:311 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D003866 {source="MONDO:equivalentTo"} xref: MFOMD:0000013 xref: NCIT:C2982 {source="DOID:1596", source="MONDO:equivalentTo"} xref: SCTID:35489007 {source="MONDO:equivalentTo"} xref: UMLS:CN236658 {source="MONDO:equivalentTo"} is_a: EFO:0004247 {source="DOID:1596", source="ICD10CM:F32", source="MESH:D003866", source="NCIT:C2982"} ! mood disorder property_value: exactMatch DOID:1596 property_value: exactMatch DOID:1596 property_value: exactMatch http://identifiers.org/mesh/D003866 property_value: exactMatch http://identifiers.org/mesh/D003866 property_value: exactMatch http://identifiers.org/snomedct/35489007 property_value: exactMatch http://identifiers.org/snomedct/35489007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN236658 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN236658 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/F32 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/F32 property_value: exactMatch NCIT:C2982 property_value: exactMatch NCIT:C2982 [Term] id: MONDO:0002052 name: lymphadenitis def: "Acute or chronic inflammation of one or more lymph nodes. It is usually caused by an infectious process." [NCIT:C26821] synonym: "acute adenitis" NARROW [DOID:1602] synonym: "acute lymphadenitis" NARROW [DOID:1602, ICD9CM:683] synonym: "adenitis" EXACT [DOID:1602, NCIT:C26821] synonym: "chronic adenitis" NARROW [DOID:1602] synonym: "chronic lymphadenitis" NARROW [DOID:1602, NCIT:C26966] synonym: "Inflammation of lymph node" EXACT [DOID:1602] synonym: "inflammation of lymph node" EXACT [] synonym: "lymph gland infection" RELATED [NCIT:C26821] synonym: "lymph node inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "lymph nodeitis" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "lymphadenitis" EXACT [MONDO:ambiguous] synonym: "lymphadenitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:1602 {source="MONDO:equivalentTo"} xref: HP:0002840 {source="MONDO:otherHierarchy"} xref: ICD9:289.1 {source="DOID:1602"} xref: ICD9:683 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1602"} xref: MESH:D008199 {source="MONDO:equivalentTo", source="DOID:1602"} xref: NCIT:C26821 {source="MONDO:equivalentTo", source="DOID:1602"} xref: SCTID:41174002 {source="MONDO:equivalentTo", source="DOID:1602"} xref: UMLS:C0024205 {source="MONDO:equivalentTo", source="NCIT:C26821", source="DOID:1602"} xref: UMLS:C0154304 {source="MONDO:equivalentTo", source="DOID:1602"} xref: UMLS:C0157705 {source="MONDO:equivalentTo", source="DOID:1602"} is_a: EFO:0009903 {source="MONDO:Redundant"} ! inflammatory disease is_a: MONDO:0004928 {source="DOID:1602", source="MONDO:Redundant", source="NCIT:C26821"} ! lymph node disorder property_value: exactMatch DOID:1602 property_value: exactMatch http://identifiers.org/mesh/D008199 property_value: exactMatch http://identifiers.org/snomedct/41174002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024205 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154304 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0157705 property_value: exactMatch NCIT:C26821 property_value: IAO:0000589 "lymphadenitis (disease)" xsd:string [Term] id: MONDO:0002058 name: breast adenoma def: "A benign, well circumscribed neoplasm that arises from the breast. Representative examples include apocrine adenoma, tubular adenoma, and pleomorphic adenoma." [NCIT:C40382] synonym: "Ademoma - breast" EXACT [DOID:1625] synonym: "breast adenoma" EXACT [MONDO:patterns/location, NCIT:C40382] xref: DOID:1625 {source="MONDO:equivalentTo"} xref: NCIT:C40382 {source="MONDO:equivalentTo", source="DOID:1625", source="MONDO:exact-label-match"} xref: UMLS:C1328385 {source="MONDO:equivalentTo", source="NCIT:C40382", source="DOID:1625"} is_a: EFO:0000232 {source="DOID:1625", source="MONDO:Redundant", source="NCIT:C40382"} ! adenoma is_a: MONDO:0000620 {source="DOID:1625", source="NCIT:C40382"} ! breast benign neoplasm is_a: MONDO:0036976 ! benign epithelial neoplasm property_value: exactMatch DOID:1625 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1328385 property_value: exactMatch NCIT:C40382 [Term] id: MONDO:0002060 name: intraductal papilloma def: "An intraluminal papillary epithelial neoplasm arising within the ducts. Representative examples are the intraductal breast papilloma and the salivary gland intraductal papilloma." [NCIT:C3785] synonym: "duct adenoma" EXACT [NCIT:C3785] synonym: "duct papilloma" EXACT [MONDO:patterns/location] synonym: "ductal papilloma" EXACT [DOID:1627, NCIT:C3785] synonym: "intraductal papilloma" EXACT [NCIT:C3785] synonym: "intraductal papilloma (morphologic abnormality)" EXACT [DOID:1627] xref: DOID:1627 {source="MONDO:equivalentTo"} xref: ICDO:8503/0 {source="NCIT:C3785"} xref: MESH:D018300 {source="MONDO:equivalentTo", source="DOID:1627"} xref: NCIT:C3785 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:1627"} xref: UMLS:C0206713 {source="MONDO:equivalentTo", source="NCIT:C3785", source="DOID:1627"} is_a: MONDO:0002363 {source="DOID:1627", source="MONDO:Redundant", source="NCIT:C3785"} ! papilloma property_value: exactMatch DOID:1627 property_value: exactMatch http://identifiers.org/mesh/D018300 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206713 property_value: exactMatch NCIT:C3785 [Term] id: MONDO:0002070 name: ventricular septal defect def: "The presence of a defect (opening) in the septum that separates the two ventricles of the heart. It can be congenital or acquired." [NCIT:P378] synonym: "heart septal defects, ventricular" RELATED [GARD:0007853] synonym: "interventricular communication" EXACT [Orphanet:1480] synonym: "interventricular septal defect" EXACT [DOID:1657] synonym: "ventricular septal abnormality" EXACT [DOID:1657] synonym: "ventricular septal defect" EXACT [MONDO:ambiguous] synonym: "ventricular septal defect (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "ventricular septal defects" RELATED [GARD:0007853] synonym: "VSD" EXACT ABBREVIATION [NCIT:C84506, Orphanet:1480] xref: DOID:1657 {source="MONDO:equivalentTo"} xref: HP:0001629 {source="MONDO:otherHierarchy"} xref: ICD9:745.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1657"} xref: MESH:D006345 {source="MONDO:equivalentTo", source="DOID:1657"} xref: NCIT:C84506 {source="MONDO:equivalentTo", source="DOID:1657"} xref: OMIMPS:614429 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:1480 {source="MONDO:equivalentObsolete", source="DOID:1657"} xref: SCTID:30288003 {source="MONDO:equivalentTo", source="DOID:1657"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0002078 {source="DOID:1657", source="MESH:D006345"} ! heart septal defect property_value: exactMatch DOID:1657 property_value: exactMatch http://identifiers.org/mesh/D006345 property_value: exactMatch http://identifiers.org/snomedct/30288003 property_value: exactMatch https://omim.org/phenotypicSeries/PS614429 property_value: exactMatch NCIT:C84506 property_value: IAO:0000589 "ventricular septal defect (disease)" xsd:string [Term] id: MONDO:0002071 name: supratentorial cancer def: "Primary and metastatic (secondary) tumors of the brain located above the tentorium cerebelli, a fold of dura mater separating the CEREBELLUM and brain STEM from the cerebral hemispheres and DIENCEPHALON (i.e., THALAMUS and HYPOTHALAMUS and related structures). In adults, primary neoplasms tend to arise in the supratentorial compartment, whereas in children they occur more frequently in the infratentorial space. Clinical manifestations vary with the location of the lesion, but SEIZURES; APHASIA; HEMIANOPSIA; hemiparesis; and sensory deficits are relatively common features. Metastatic supratentorial neoplasms are frequently multiple at the time of presentation." [MESH:D015173] synonym: "brain neoplasm, supratentorial" EXACT [DOID:1659, NCIT:C3397] synonym: "malignant supratentorial neoplasm" EXACT [NCIT:C4964] synonym: "malignant supratentorial tumor" EXACT [DOID:1659, NCIT:C4964] synonym: "malignant supratentorial tumour" EXACT OMO:0003005 [] synonym: "supratentorial neoplasms, malignant" EXACT [NCIT:C4964] xref: DOID:1659 {source="MONDO:equivalentTo"} xref: MESH:D015173 {source="MONDO:equivalentTo", source="DOID:1659"} xref: NCIT:C4964 {source="MONDO:equivalentTo", source="DOID:1659"} is_a: MONDO:0001657 {source="DOID:1659", source="MESH:D015173", source="NCIT:C4964"} ! brain cancer property_value: exactMatch DOID:1659 property_value: exactMatch http://identifiers.org/mesh/D015173 property_value: exactMatch NCIT:C4964 [Term] id: MONDO:0002076 name: pneumothorax def: "Abnormal presence of air in the pleural cavity." [NCIT:P378] synonym: "pneumothorax" EXACT [MONDO:ambiguous] synonym: "pneumothorax (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:1673 {source="MONDO:equivalentTo"} xref: HP:0002107 {source="MONDO:otherHierarchy"} xref: ICD9:512.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D011030 {source="MONDO:equivalentTo"} xref: NCIT:C38006 {source="MONDO:equivalentTo"} xref: SCTID:36118008 {source="MONDO:equivalentTo"} is_a: MONDO:0002037 {source="DOID:1673", source="MESH:D011030", source="NCIT:C38006/inferred"} ! pleural disorder property_value: exactMatch DOID:1673 property_value: exactMatch http://identifiers.org/mesh/D011030 property_value: exactMatch http://identifiers.org/snomedct/36118008 property_value: exactMatch NCIT:C38006 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000589 "pneumothorax (disease)" xsd:string [Term] id: MONDO:0002078 name: heart septal defect def: "A congenital disorder characterized by the presence of an abnormal communication between the atria or the ventricles of the heart due to defects in the cardiac septum." [NCIT:P378] synonym: "Cardiac septal defects" EXACT [DOID:1681] synonym: "congenital septal defect" EXACT [NCIT:C84482] synonym: "congenital septal defect of heart" EXACT [DOID:1681] synonym: "holes in the heart" EXACT [NCIT:C84482] synonym: "septal defect" EXACT [DOID:1681] xref: DOID:1681 {source="MONDO:equivalentTo"} xref: ICD9:745.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:745.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D006343 {source="DOID:1681", source="MONDO:equivalentTo"} xref: NCIT:C84482 {source="DOID:1681", source="MONDO:equivalentTo"} xref: SCTID:253273004 {source="DOID:1681", source="MONDO:equivalentTo"} xref: UMLS:C0018816 {source="DOID:1681", source="MONDO:equivalentTo", source="NCIT:C84482"} is_a: EFO:0005207 {source="DOID:1681", source="MESH:D006343", source="NCIT:C84482"} ! congenital heart disease property_value: exactMatch DOID:1681 property_value: exactMatch http://identifiers.org/mesh/D006343 property_value: exactMatch http://identifiers.org/snomedct/253273004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018816 property_value: exactMatch NCIT:C84482 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002083 name: Richter syndrome def: "Transformation of chronic lymphocytic leukemia into aggressive non-Hodgkin's lymphoma, usually diffuse large B-cell lymphoma (immunoblastic or centroblastic variant). Occasional cases of transformation to Hodgkin's lymphoma have also been described, particularly in patients treated with purine nucleotide analogs. Molecular genetic studies suggest that in approximately half of the cases, the lymphoma is clonally related to the underlying chronic lymphocytic leukemia, whereas in the remaining cases the lymphoma probably represents a secondary, unrelated neoplasm." [NCIT:P378] synonym: "Richter syndrome" EXACT [DOID:1703, NCIT:C35424] synonym: "Richter transformation" EXACT [NCIT:C35424] synonym: "Richter's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant, NCIT:C35424] synonym: "Richter's transformation" EXACT [NCIT:C35424] xref: DOID:1703 {source="MONDO:equivalentTo"} xref: NCIT:C35424 {source="MONDO:equivalentTo", source="DOID:1703"} xref: SCTID:277550009 {source="MONDO:equivalentTo", source="DOID:1703"} xref: UMLS:C0349631 {source="MONDO:equivalentTo", source="NCIT:C35424", source="DOID:1703"} is_a: MONDO:0021058 {source="NCIT:C35424"} ! neoplastic syndrome is_a: MONDO:0024882 ! secondary neoplasm relationship: disease_arises_from_feature EFO:0000095 {source="DOID:1703"} ! chronic lymphocytic leukemia property_value: exactMatch DOID:1703 property_value: exactMatch http://identifiers.org/snomedct/277550009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349631 property_value: exactMatch NCIT:C35424 property_value: excluded_subClassOf MONDO:0004948 {source="DOID:1703"} [Term] id: MONDO:0002087 name: peritoneum cancer def: "A malignant neoplasm involving the peritoneum" [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of peritoneum" EXACT [DOID:1725, MONDO:patterns/cancer] synonym: "cancer of the peritoneum" EXACT [NCIT:C3538] synonym: "malignant neoplasm of peritoneum" EXACT [MONDO:patterns/cancer] synonym: "malignant peritoneal neoplasm" EXACT [NCIT:C3538] synonym: "malignant peritoneum neoplasm" EXACT [MONDO:patterns/cancer] synonym: "peritoneal cancer" EXACT [NCIT:C3538] synonym: "peritoneal cavity cancer" EXACT [NCIT:C3538] synonym: "peritoneal neoplasm" RELATED [DOID:1725] synonym: "peritoneum cancer" EXACT [MONDO:patterns/location] xref: DOID:1725 {source="MONDO:equivalentTo"} xref: ICD9:158.8 {source="DOID:1725"} xref: ICD9:158.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:159.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C3538 {source="MONDO:equivalentTo"} xref: SCTID:363492001 {source="MONDO:equivalentTo"} xref: UMLS:C0153467 {source="MONDO:equivalentTo", source="NCIT:C3538"} is_a: EFO:1001100 {source="MONDO:Redundant", source="NCIT:C3538"} ! peritoneal neoplasm is_a: MONDO:0004992 {source="DOID:1725", source="DOID:1725/inferred", source="MONDO:Redundant"} ! cancer property_value: exactMatch DOID:1725 property_value: exactMatch http://identifiers.org/snomedct/363492001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153467 property_value: exactMatch NCIT:C3538 [Term] id: MONDO:0002089 name: retinal vascular occlusion def: "An occlusion of the retinal vasculature." [NCIT:P378] synonym: "retinal vascular occlusion" EXACT [DOID:1729, NCIT:C34980] synonym: "retinal vascular occlusion, unspecified" EXACT [DOID:1729, ICD9CM:362.30] xref: DOID:1729 {source="MONDO:equivalentTo"} xref: ICD10CM:H34 {source="DOID:1729", source="MONDO:equivalentTo"} xref: ICD9:362.3 {source="DOID:1729"} xref: ICD9:362.30 {source="DOID:1729", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C34980 {source="DOID:1729", source="MONDO:equivalentTo"} xref: SCTID:73757007 {source="DOID:1729", source="MONDO:equivalentTo"} xref: UMLS:C0035326 {source="DOID:1729", source="MONDO:equivalentTo", source="NCIT:C34980"} is_a: MONDO:0002311 {source="NCIT:C34980"} ! retinal vascular disorder is_a: MONDO:0020672 ! vascular occlusion disorder property_value: exactMatch DOID:1729 property_value: exactMatch http://identifiers.org/snomedct/73757007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035326 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H34 property_value: exactMatch NCIT:C34980 property_value: excluded_subClassOf MONDO:0005294 {source="DOID:1729"} [Term] id: MONDO:0002090 name: eccrine sweat gland neoplasm def: "A neoplasm involving a eccrine sweat gland." [MONDO:patterns/neoplasm] synonym: "eccrine neoplasm" EXACT [NCIT:C6796] synonym: "eccrine neoplasm of skin" EXACT [NCIT:C6796] synonym: "eccrine neoplasm of the skin" EXACT [NCIT:C6796] synonym: "eccrine skin neoplasm" EXACT [DOID:173, NCIT:C6796] synonym: "eccrine skin tumor" EXACT [NCIT:C6796] synonym: "eccrine skin tumour" EXACT OMO:0003005 [] synonym: "eccrine sweat gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "eccrine sweat gland tumor" EXACT [MONDO:patterns/neoplasm] synonym: "eccrine sweat gland tumour" EXACT OMO:0003005 [] synonym: "eccrine tumor" EXACT [DOID:173, NCIT:C6796] synonym: "eccrine tumor of skin" EXACT [NCIT:C6796] synonym: "eccrine tumor of the skin" EXACT [NCIT:C6796] synonym: "eccrine tumour" EXACT OMO:0003005 [] synonym: "eccrine tumour of skin" EXACT OMO:0003005 [] synonym: "eccrine tumour of the skin" EXACT OMO:0003005 [] synonym: "neoplasm of eccrine sweat gland" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of eccrine sweat gland" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of eccrine sweat gland" EXACT OMO:0003005 [] xref: DOID:173 {source="MONDO:equivalentTo"} xref: NCIT:C6796 {source="MONDO:equivalentTo", source="DOID:173"} xref: UMLS:C1333371 {source="MONDO:equivalentTo", source="NCIT:C6796", source="DOID:173"} is_a: EFO:1001204 {source="DOID:173", source="MONDO:Redundant", source="NCIT:C6796"} ! sweat gland neoplasm property_value: exactMatch DOID:173 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333371 property_value: exactMatch NCIT:C6796 [Term] id: MONDO:0002093 name: acanthoma def: "A benign skin neoplasm composed of epithelial cells." [NCIT:C7419] synonym: "acanthoma" EXACT [MONDO:ambiguous, NCIT:C7419] synonym: "acanthoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:174 {source="MONDO:equivalentTo"} xref: HP:0025432 {source="MONDO:otherHierarchy"} xref: MESH:D049309 {source="MONDO:equivalentTo", source="DOID:174"} xref: NCIT:C7419 {source="MONDO:equivalentTo", source="DOID:174"} xref: UMLS:C0846967 {source="MONDO:equivalentTo", source="DOID:174", source="NCIT:C7419"} is_a: MONDO:0024666 {source="NCIT:C7419"} ! benign epithelial skin neoplasm property_value: exactMatch DOID:174 property_value: exactMatch http://identifiers.org/mesh/D049309 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0846967 property_value: exactMatch NCIT:C7419 property_value: excluded_subClassOf MONDO:0002532 {source="DOID:174", source="MESH:D049309"} property_value: IAO:0000589 "acanthoma (disease)" xsd:string [Term] id: MONDO:0002095 name: vascular cancer def: "A malignant neoplasm arising from the blood vessels." [NCIT:C8538] comment: Editor note: see also NCIT:C7390 synonym: "blood vessel neoplasm" BROAD [DOID:175, NCIT:C7387] synonym: "blood vessel tumor" BROAD [DOID:175] synonym: "blood vessel tumor (morphologic abnormality)" BROAD [DOID:175] synonym: "blood vessel tumor disorder" BROAD [DOID:175] synonym: "blood vessel tumors" BROAD [DOID:175] synonym: "blood vessel tumors (morphologic abnormality)" BROAD [DOID:175] synonym: "blood vessel tumour" BROAD OMO:0003005 [] synonym: "blood vessel tumour (morphologic abnormality)" BROAD OMO:0003005 [] synonym: "blood vessel tumour disorder" BROAD OMO:0003005 [] synonym: "blood vessel tumours" BROAD OMO:0003005 [] synonym: "blood vessel tumours (morphologic abnormality)" BROAD OMO:0003005 [] synonym: "cancer of vasculature" EXACT [MONDO:patterns/cancer] synonym: "Haemangiomatous tumor" BROAD [DOID:175] synonym: "Haemangiomatous tumour" BROAD OMO:0003005 [] synonym: "leiomyosarcoma of the renal vein" NARROW [DOID:175, NCIT:C5388] synonym: "malignant blood vessel neoplasm" EXACT [NCIT:C8538] synonym: "malignant blood vessel tumor" EXACT [NCIT:C8538] synonym: "malignant blood vessel tumour" EXACT OMO:0003005 [] synonym: "malignant great vessel tumour" RELATED OMO:0003005 [] synonym: "malignant neoplasm of vasculature" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of pulmonary artery" NARROW [DOID:175, NCIT:C5380] synonym: "malignant tumor of pulmonary vein" NARROW [DOID:175, NCIT:C5383] synonym: "malignant tumour of pulmonary artery" NARROW OMO:0003005 [] synonym: "malignant tumour of pulmonary vein" NARROW OMO:0003005 [] synonym: "malignant vascular neoplasm" EXACT [DOID:175] synonym: "malignant vascular tumor" EXACT [DOID:175, NCIT:C7390] synonym: "malignant vascular tumour" EXACT OMO:0003005 [] synonym: "malignant vasculature neoplasm" EXACT [MONDO:patterns/cancer] synonym: "neoplasm of great vessel" BROAD [DOID:175] synonym: "pulmonary artery cancer" EXACT [MONDO:patterns/location] synonym: "pulmonary artery malignant neoplasm" EXACT [DOID:175] synonym: "pulmonary vein malignant neoplasm" EXACT [DOID:175] synonym: "renal vein leiomyosarcoma" RELATED [DOID:175] synonym: "vascular tissue neoplasm" RELATED [DOID:175] synonym: "vascular tumors" BROAD [DOID:175, NCIT:C7388] synonym: "vascular tumours" BROAD OMO:0003005 [] synonym: "vasculature cancer" EXACT [] xref: DOID:175 {source="MONDO:equivalentTo"} xref: MESH:D009383 {source="MONDO:equivalentTo"} xref: NCIT:C8538 {source="MONDO:equivalentTo"} is_a: MONDO:0002100 {source="DOID:175", source="MONDO:Redundant", source="NCIT:C8538/inferred"} ! cardiovascular cancer is_a: MONDO:0021080 {source="MONDO:Entailed", source="NCIT:C8538"} ! blood vessel neoplasm property_value: exactMatch DOID:175 property_value: exactMatch http://identifiers.org/mesh/D009383 property_value: exactMatch NCIT:C8538 property_value: excluded_subClassOf MONDO:0000473 {source="DOID:175"} [Term] id: MONDO:0002100 name: cardiovascular cancer def: "A primary or metastatic malignant neoplasm involving the cardiovascular system." [NCIT:C114940] synonym: "cancer of cardiovascular system" EXACT [MONDO:patterns/cancer] synonym: "cardiovascular neoplasm" BROAD [DOID:176] synonym: "cardiovascular system cancer" EXACT [] synonym: "cardiovascular tumors" EXACT [DOID:176] synonym: "cardiovascular tumours" EXACT OMO:0003005 [] synonym: "malignant cardiovascular neoplasm" EXACT [NCIT:C114940] synonym: "malignant cardiovascular system neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of cardiovascular system" EXACT [MONDO:patterns/cancer] xref: DOID:176 {source="MONDO:equivalentTo"} xref: NCIT:C114940 {source="MONDO:equivalentTo"} xref: UMLS:C0497243 {source="MONDO:equivalentTo", source="DOID:176"} xref: UMLS:C3898472 {source="MONDO:equivalentTo"} is_a: MONDO:0004992 {source="DOID:176", source="DOID:176/inferred", source="MONDO:Redundant"} ! cancer is_a: MONDO:0024757 {source="MONDO:Redundant", source="NCIT:C114940"} ! cardiovascular neoplasm property_value: exactMatch DOID:176 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0497243 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3898472 property_value: exactMatch NCIT:C114940 [Term] id: MONDO:0002102 name: cheilitis def: "An inflammatory process affecting the lip." [NCIT:C79545] synonym: "inflammation of lip" EXACT [] synonym: "lip inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:1762 {source="MONDO:equivalentTo"} xref: HP:0100825 {source="DOID:1762", source="MONDO:otherHierarchy"} xref: MESH:D002613 {source="DOID:1762", source="MONDO:equivalentTo"} xref: NCIT:C79545 {source="DOID:1762", source="MONDO:equivalentTo"} xref: SCTID:7847004 {source="DOID:1762", source="MONDO:equivalentTo"} xref: UMLS:C0007971 {source="DOID:1762", source="MONDO:equivalentTo", source="NCIT:C79545"} is_a: EFO:0009903 ! inflammatory disease is_a: MONDO:0004748 {source="DOID:1762", source="MESH:D002613", source="MONDO:Redundant", source="NCIT:C79545/inferred"} ! lip disorder property_value: exactMatch DOID:1762 property_value: exactMatch http://identifiers.org/mesh/D002613 property_value: exactMatch http://identifiers.org/snomedct/7847004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007971 property_value: exactMatch NCIT:C79545 [Term] id: MONDO:0002108 name: thyroid cancer def: "A malignant neoplasm involving the thyroid gland" [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of thyroid gland" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the thyroid" EXACT [NCIT:C7510] synonym: "malignant neoplasm of the thyroid gland" EXACT [NCIT:C7510] synonym: "malignant neoplasm of thyroid" EXACT [NCIT:C7510] synonym: "malignant neoplasm of thyroid gland" EXACT [DOID:1781, ICD9CM:193, MONDO:patterns/cancer, NCIT:C7510] synonym: "malignant thyroid gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7510] synonym: "malignant thyroid gland tumor" EXACT [NCIT:C7510] synonym: "malignant thyroid gland tumour" EXACT OMO:0003005 [] synonym: "malignant thyroid neoplasm" EXACT [NCIT:C7510] synonym: "malignant thyroid tumor" EXACT [NCIT:C7510] synonym: "malignant thyroid tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of the thyroid" EXACT [NCIT:C7510] synonym: "malignant tumor of the thyroid gland" EXACT [NCIT:C7510] synonym: "malignant tumor of thyroid" EXACT [NCIT:C7510] synonym: "malignant tumor of thyroid gland" EXACT [DOID:1781, NCIT:C7510] synonym: "malignant tumour of the thyroid" EXACT OMO:0003005 [] synonym: "malignant tumour of the thyroid gland" EXACT OMO:0003005 [] synonym: "malignant tumour of thyroid" EXACT OMO:0003005 [] synonym: "malignant tumour of thyroid gland" EXACT OMO:0003005 [] synonym: "neoplasm of thyroid gland" BROAD [DOID:1781] synonym: "thyroid gland cancer" EXACT [MONDO:patterns/location] synonym: "thyroid gland neoplasm" BROAD [DOID:1781] xref: DOID:1781 {source="MONDO:equivalentTo"} xref: ICD9:193 {source="DOID:1781", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C7510 {source="DOID:1781", source="MONDO:equivalentTo"} xref: SCTID:363478007 {source="DOID:1781", source="MONDO:equivalentTo"} xref: UMLS:CN221577 {source="MONDO:equivalentTo"} is_a: EFO:0003841 {source="MONDO:Redundant", source="NCIT:C7510"} ! thyroid neoplasm is_a: MONDO:0021069 ! malignant endocrine neoplasm property_value: exactMatch DOID:1781 property_value: exactMatch http://identifiers.org/snomedct/363478007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN221577 property_value: exactMatch NCIT:C7510 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002113 name: peritoneal carcinoma def: "A peritoneum cancer that is located in the inside of the abdomen." [DOID:1791] synonym: "carcinoma of peritoneum" EXACT [MONDO:patterns/carcinoma] synonym: "peritoneum carcinoma" EXACT [MONDO:patterns/location] synonym: "primary peritoneal carcinoma" NARROW [DOID:1791] xref: DOID:1791 {source="MONDO:equivalentTo"} xref: NCIT:C40022 {source="DOID:1791", source="MONDO:relatedTo"} xref: SCTID:447781009 {source="MONDO:equivalentTo"} is_a: EFO:0000313 ! carcinoma is_a: MONDO:0002087 ! peritoneum cancer property_value: exactMatch DOID:1791 property_value: exactMatch http://identifiers.org/snomedct/447781009 [Term] id: MONDO:0002116 name: malignant exocrine pancreas neoplasm def: "A malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue." [NCIT:C7430] synonym: "cancer of exocrine pancreas" EXACT [MONDO:patterns/cancer] synonym: "exocrine pancreas cancer" EXACT [MONDO:patterns/location] synonym: "malignant exocrine pancreas neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7430] synonym: "malignant exocrine pancreas tumor" EXACT [NCIT:C7430] synonym: "malignant exocrine pancreas tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of exocrine pancreas" EXACT [MONDO:patterns/cancer, NCIT:C7430] synonym: "malignant neoplasm of the exocrine pancreas" EXACT [DOID:1795, NCIT:C7430] synonym: "malignant tumor of exocrine pancreas" EXACT [DOID:1795, NCIT:C7430] synonym: "malignant tumor of the exocrine pancreas" EXACT [NCIT:C7430] synonym: "malignant tumour of exocrine pancreas" EXACT OMO:0003005 [] synonym: "malignant tumour of the exocrine pancreas" EXACT OMO:0003005 [] synonym: "pancreatic exocrine tumor" BROAD [DOID:1795] synonym: "pancreatic exocrine tumour" BROAD OMO:0003005 [] synonym: "tumor of exocrine pancreas" RELATED [DOID:1795] synonym: "tumour of exocrine pancreas" RELATED OMO:0003005 [] xref: DOID:1795 {source="MONDO:equivalentTo"} xref: NCIT:C7430 {source="MONDO:equivalentTo"} xref: SCTID:255088001 {source="DOID:1795", source="MONDO:equivalentTo"} xref: UMLS:C0346648 {source="NCIT:C7430", source="DOID:1795", source="MONDO:equivalentTo"} is_a: EFO:1000359 {source="DOID:1795", source="MONDO:Redundant", source="NCIT:C7430"} ! Malignant Pancreatic Neoplasm is_a: MONDO:0021076 {source="MONDO:Redundant", source="NCIT:C7430"} ! pancreatic exocrine neoplasm property_value: exactMatch DOID:1795 property_value: exactMatch http://identifiers.org/snomedct/255088001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346648 property_value: exactMatch NCIT:C7430 [Term] id: MONDO:0002120 name: neuroendocrine carcinoma def: "A malignant neuroendocrine neoplasm composed of cells containing secretory granules that stain positive for NSE and chromogranin. The neoplastic cells are often round and form clusters or trabecular sheets. Representative examples are small cell carcinoma, large cell neuroendocrine carcinoma, and Merkel cell carcinoma." [NCIT:C3773] synonym: "NEC" EXACT ABBREVIATION [NCIT:C3773] synonym: "neuroendocrine cancer" EXACT [NCIT:C3773] synonym: "neuroendocrine carcinoma" EXACT [NCIT:C3773] xref: DOID:1800 {source="MONDO:equivalentTo"} xref: ICDO:8246/3 {source="NCIT:C3773"} xref: MESH:D018278 {source="MONDO:equivalentTo", source="DOID:1800"} xref: NCIT:C3773 {source="MONDO:equivalentTo", source="DOID:1800", source="MONDO:exact-label-match"} xref: SCTID:253000007 {source="MONDO:equivalentTo", source="DOID:1800"} xref: UMLS:C0206695 {source="MONDO:equivalentTo", source="NCIT:C3773", source="DOID:1800"} is_a: EFO:0000313 {source="DOID:1800", source="MESH:D018278/inferred", source="MONDO:Redundant", source="NCIT:C3773"} ! carcinoma is_a: EFO:1001901 {source="MESH:D018278", source="MONDO:Redundant", source="NCIT:C3773"} ! neuroendocrine neoplasm is_a: MONDO:0021069 {source="MONDO:Redundant", source="NCIT:C3773"} ! malignant endocrine neoplasm intersection_of: EFO:0000313 {source="NCIT:C3773"} ! carcinoma intersection_of: EFO:1001901 {source="NCIT:C3773"} ! neuroendocrine neoplasm intersection_of: MONDO:0021069 {source="NCIT:C3773"} ! malignant endocrine neoplasm property_value: exactMatch DOID:1800 property_value: exactMatch http://identifiers.org/mesh/D018278 property_value: exactMatch http://identifiers.org/snomedct/253000007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206695 property_value: exactMatch NCIT:C3773 [Term] id: MONDO:0002122 name: neuritis def: "A neuropathy arising from inflammation of one or more nerves." [MONDO:cjm] synonym: "nerve inflammation" EXACT [] synonym: "peripheral neuritis" EXACT [DOID:1803] xref: DOID:1803 {source="MONDO:equivalentTo"} xref: ICD9:729.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D009443 {source="MONDO:equivalentTo", source="DOID:1803"} xref: NCIT:C116381 {source="MONDO:equivalentTo", source="DOID:1803"} xref: SCTID:128192007 {source="MONDO:equivalentTo", source="DOID:1803"} xref: SCTID:84299009 {source="MONDO:equivalentObsolete", source="DOID:1803"} xref: UMLS:C0027813 {source="MONDO:equivalentTo", source="DOID:1803", source="NCIT:C116381"} is_a: EFO:0003100 {source="DOID:1803", source="MONDO:Redundant", source="NCIT:C116381"} ! peripheral neuropathy is_a: EFO:0009903 ! inflammatory disease property_value: exactMatch DOID:1803 property_value: exactMatch http://identifiers.org/mesh/D009443 property_value: exactMatch http://identifiers.org/snomedct/128192007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027813 property_value: exactMatch NCIT:C116381 [Term] id: MONDO:0002123 name: calcinosis def: "Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer." [NCIT:P378] synonym: "calcification" EXACT [NCIT:C3672] synonym: "calcium deposit(s)" EXACT [NCIT:C3672] synonym: "deposit(s), calcium" EXACT [NCIT:C3672] synonym: "macrocalcification" EXACT [NCIT:C3672] synonym: "pathologic calcification" EXACT [DOID:182] synonym: "pathologically calcified structure" EXACT [DOID:182] xref: DOID:182 {source="MONDO:equivalentTo"} xref: EFO:0003837 {source="MONDO:equivalentTo"} xref: HP:0003761 {source="MONDO:otherHierarchy"} xref: ICD9:275.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D002114 {source="MONDO:equivalentTo", source="DOID:182"} xref: NCIT:C3672 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:182"} xref: SCTID:6595006 {source="MONDO:equivalentTo", source="DOID:182"} is_a: EFO:0005769 {source="DOID:182", source="MESH:D002114"} ! calcium metabolic disease property_value: exactMatch DOID:182 property_value: exactMatch http://identifiers.org/mesh/D002114 property_value: exactMatch http://identifiers.org/snomedct/6595006 property_value: exactMatch NCIT:C3672 [Term] id: MONDO:0002132 name: skull cancer def: "A malignant neoplasm involving the skull." [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of skull" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of skull" EXACT [MONDO:patterns/cancer] synonym: "malignant skull neoplasm" EXACT [MONDO:patterns/cancer] synonym: "skull cancer" EXACT [MONDO:patterns/location] xref: DOID:1863 {source="MONDO:equivalentTo"} xref: NCIT:C3375 {source="MONDO:relatedTo", source="DOID:1863"} xref: SCTID:126538005 {source="MONDO:relatedTo", source="DOID:1863"} xref: UMLS:C0037305 {source="MONDO:relatedTo", source="DOID:1863"} is_a: EFO:0006859 ! head and neck malignant neoplasia is_a: EFO:1000350 {source="DOID:1863", source="MONDO:Redundant"} ! Malignant Bone Neoplasm is_a: MONDO:0024653 ! skull neoplasm property_value: exactMatch DOID:1863 [Term] id: MONDO:0002134 name: physiological sexual disorder def: "Physiological disturbances in normal sexual performance in either the male or the female." [MESH:D012735] synonym: "physiological sexual disorder" EXACT [MESH:D012735] synonym: "physiological sexual disorders" RELATED [MESH:D012735] synonym: "physiological sexual dysfunction" EXACT [MESH:D012735] synonym: "physiological sexual dysfunctions" RELATED [MESH:D012735] synonym: "Sex disorders" BROAD [MESH:D012735] synonym: "sexual disorder, physiological" RELATED [MESH:D012735] synonym: "sexual disorders, physiological" RELATED [MESH:D012735] synonym: "sexual dysfunction" BROAD [DOID:1876] synonym: "sexual dysfunctions, physiological" RELATED [MESH:D012735] xref: DOID:1876 {source="MONDO:equivalentTo"} xref: MESH:D012735 {source="MONDO:equivalentTo", source="DOID:1876"} xref: UMLS:C0549622 {source="MONDO:equivalentTo", source="DOID:1876", source="NCIT:C3347"} is_a: EFO:0000512 {source="https://github.com/monarch-initiative/mondo/issues/723", source="https://orcid.org/0000-0001-5208-3432"} ! reproductive system disease property_value: exactMatch DOID:1876 property_value: exactMatch http://identifiers.org/mesh/D012735 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0549622 property_value: excluded_subClassOf MONDO:0000595 {source="DOID:1876"} property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002135 name: optic nerve disorder def: "A non-neoplastic or neoplastic disorder affecting the optic nerve (second cranial nerve)." [NCIT:C79698] synonym: "cranial nerve II disease" EXACT [MONDO:patterns/location] synonym: "cranial nerve II disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "disease of cranial nerve II" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of cranial nerve II" EXACT [] synonym: "disorder of cranial nerve II" EXACT [MONDO:patterns/location_top] synonym: "disorder of the second nerve" EXACT [DOID:1891] synonym: "optic nerve disorder" EXACT [DOID:1891, NCIT:C79698] synonym: "optic neuropathy" EXACT [DOID:1891] synonym: "second cranial nerve disorder" EXACT [NCIT:C79698] xref: DOID:1891 {source="MONDO:equivalentTo"} xref: ICD9:377.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:377.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D009901 {source="DOID:1891", source="MONDO:equivalentTo"} xref: NCIT:C79698 {source="DOID:1891", source="MONDO:equivalentTo"} xref: Orphanet:519351 {source="MONDO:mondoIsBroaderThanSource"} xref: SCTID:77157004 {source="DOID:1891", source="MONDO:equivalentTo"} xref: UMLS:C0029132 {source="DOID:1891", source="MONDO:equivalentTo"} is_a: EFO:0009386 ! central nervous system disease is_a: MONDO:0003569 {source="DOID:1891", source="MESH:D009901", source="MONDO:Redundant", source="NCIT:C79698"} ! cranial nerve neuropathy is_a: MONDO:0024458 ! disorder of visual system property_value: exactMatch DOID:1891 property_value: exactMatch http://identifiers.org/mesh/D009901 property_value: exactMatch http://identifiers.org/snomedct/77157004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029132 property_value: exactMatch NCIT:C79698 property_value: narrowMatch Orphanet:519351 [Term] id: MONDO:0002145 name: disorder of sexual differentiation def: "A congenital disorder characterized by abnormalities in the development of the sexual characteristics." [NCIT:C103186] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:90771"} synonym: "CARD" BROAD ABBREVIATION [NCIT:C103186] synonym: "conditions affecting reproductive development" EXACT [NCIT:C103186] synonym: "differences of sex development" EXACT [NCIT:C103186] synonym: "disorder of sex development" EXACT [MONDO:0019592] synonym: "disorder of sex differentiation" EXACT [MONDO:patterns/basis_in_disruption_of_process] synonym: "disorder of sexual differentiation" EXACT [NCIT:C103186] synonym: "disorders of sex development" EXACT [NCIT:C103186] synonym: "disorders of sex development (DSD)" RELATED [GTR:AN1172969] synonym: "DSD" BROAD ABBREVIATION [Orphanet:90771] synonym: "intersex" EXACT [NCIT:C103186] synonym: "intersex conditions" EXACT [NCIT:C103186] synonym: "sex differentiation disease" EXACT [DOID:1923] synonym: "sex differentiation disorder" EXACT [DOID:1923] synonym: "sexual differentiation disorder" EXACT [NCIT:C103186] xref: DOID:1923 {source="MONDO:equivalentTo"} xref: GTR:AN1172969 xref: MedDRA:10070597 {source="Orphanet:90771", source="Orphanet:90771/e"} xref: MESH:D012734 {source="MONDO:equivalentTo", source="Orphanet:90771", source="DOID:1923", source="Orphanet:90771/e"} xref: NCIT:C103186 {source="MONDO:equivalentTo"} xref: Orphanet:90771 {source="MONDO:equivalentTo"} xref: SCTID:39179006 {source="MONDO:equivalentTo"} xref: UMLS:CN757797 {source="MONDO:equivalentTo"} is_a: MONDO:0002259 {source="DOID:1923", source="MESH:D012734"} ! gonadal disorder is_a: MONDO:0019755 {source="Orphanet:90771"} ! developmental defect during embryogenesis property_value: closeMatch http://identifiers.org/meddra/10070597 property_value: exactMatch DOID:1923 property_value: exactMatch http://identifiers.org/mesh/D012734 property_value: exactMatch http://identifiers.org/snomedct/39179006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN757797 property_value: exactMatch NCIT:C103186 property_value: exactMatch Orphanet:90771 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4091 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4949 xsd:anyURI [Term] id: MONDO:0002146 name: hypogonadism def: "A disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation." [NCIT:P378] synonym: "gonadotropin deficiency" EXACT [NCIT:C9227] synonym: "hypogonadotropism" EXACT [NCIT:C9227] xref: DOID:1924 {source="MONDO:equivalentTo"} xref: ICD9:253.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D007006 {source="MONDO:equivalentTo", source="DOID:1924"} xref: NCIT:C9227 {source="MONDO:equivalentTo", source="DOID:1924"} xref: SCTID:48130008 {source="MONDO:equivalentTo", source="DOID:1924"} xref: UMLS:C0020619 {source="MONDO:equivalentTo", source="NCIT:C9227", source="DOID:1924"} is_a: MONDO:0002259 {source="DOID:1924", source="MESH:D007006", source="NCIT:C9227/inferred"} ! gonadal disorder property_value: exactMatch DOID:1924 property_value: exactMatch http://identifiers.org/mesh/D007006 property_value: exactMatch http://identifiers.org/snomedct/48130008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020619 property_value: exactMatch NCIT:C9227 [Term] id: MONDO:0002149 name: reproductive system cancer def: "A malignant neoplasm involving the reproductive organ" [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of reproductive organ" EXACT [MONDO:patterns/cancer] synonym: "cancer of reproductive system" EXACT [DOID:193, MONDO:patterns/cancer] synonym: "malignant neoplasm of reproductive organ" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of reproductive system" EXACT [MONDO:patterns/cancer] synonym: "malignant reproductive organ neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant reproductive system neoplasm" EXACT [DOID:193, MONDO:patterns/cancer, NCIT:C36076] synonym: "reproductive organ cancer" EXACT [MONDO:patterns/location] synonym: "reproductive system cancer" EXACT [] synonym: "reproductive tumor" BROAD [DOID:193, NCIT:C3674] synonym: "reproductive tumour" BROAD OMO:0003005 [] xref: DOID:193 {source="MONDO:equivalentTo"} xref: NCIT:C36076 {source="MONDO:equivalentTo"} xref: UMLS:C1334618 {source="NCIT:C36076", source="MONDO:equivalentTo"} is_a: EFO:1000051 {source="MONDO:Redundant", source="NCIT:C36076"} ! reproductive system neoplasm is_a: MONDO:0004992 {source="DOID:193", source="DOID:193/inferred", source="MONDO:Redundant"} ! cancer property_value: exactMatch DOID:193 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334618 property_value: exactMatch NCIT:C36076 [Term] id: MONDO:0002150 name: hypothalamic disorder def: "Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; autonomic nervous system diseases; sleep disorders; behavioral symptoms related to dysfunction of the limbic system; and neuroendocrine disorders." [MESH:D007027] synonym: "disease of hypothalamus" EXACT [MONDO:design_pattern, MONDO:patterns/location_top] synonym: "disease or disorder of hypothalamus" EXACT [] synonym: "disorder of hypothalamus" EXACT [MONDO:design_pattern, MONDO:patterns/location_top] synonym: "hypothalamus disease" EXACT [MONDO:design_pattern] synonym: "hypothalamus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:1931 {source="MONDO:equivalentTo"} xref: ICD9:253.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D007027 {source="MONDO:equivalentTo", source="DOID:1931"} xref: SCTID:399100005 {source="MONDO:equivalentTo", source="DOID:1931"} xref: UMLS:C0020655 {source="MONDO:equivalentTo", source="DOID:1931"} is_a: MONDO:0003081 {source="DOID:1931", source="MONDO:Entailed"} ! thalamic disorder property_value: exactMatch DOID:1931 property_value: exactMatch http://identifiers.org/mesh/D007027 property_value: exactMatch http://identifiers.org/snomedct/399100005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020655 [Term] id: MONDO:0002158 name: fallopian tube cancer def: "A primary or metastatic malignant neoplasm that affects the fallopian tube. Representative examples include carcinoma, carcinosarcoma, and leiomyosarcoma." [NCIT:C7480] subset: ordo_disease {source="Orphanet:180242"} synonym: "cancer of fallopian tube" EXACT [MONDO:patterns/cancer] synonym: "cancer of fallopian tubes" EXACT [Orphanet:180242] synonym: "fallopian tube cancer" EXACT [MONDO:patterns/location] synonym: "fallopian tube malignant neoplasm" EXACT [NCIT:C7480] synonym: "fallopian tube malignant tumor" EXACT [NCIT:C7480] synonym: "fallopian tube malignant tumour" EXACT OMO:0003005 [] synonym: "malignant fallopian tube neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7480] synonym: "malignant fallopian tube tumor" EXACT [NCIT:C7480] synonym: "malignant fallopian tube tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of fallopian tube" EXACT [MONDO:patterns/cancer, NCIT:C7480] synonym: "malignant neoplasm of the fallopian tube" EXACT [NCIT:C7480] synonym: "malignant neoplasm of uterine tube" EXACT [DOID:1964] synonym: "malignant tubal tumor" EXACT [Orphanet:180242] synonym: "malignant tubal tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of fallopian tube" EXACT [DOID:1964, NCIT:C7480] synonym: "malignant tumor of fallopian tubes" EXACT [MONDO:0015866] synonym: "malignant tumor of the fallopian tube" EXACT [NCIT:C7480] synonym: "malignant tumour of fallopian tube" EXACT OMO:0003005 [] synonym: "malignant tumour of fallopian tubes" EXACT OMO:0003005 [] synonym: "malignant tumour of the fallopian tube" EXACT OMO:0003005 [] synonym: "neoplasm, fallopian tube, malignant" EXACT [NCIT:C7480] synonym: "tubal cancer" EXACT [Orphanet:180242] synonym: "tumor of the fallopian tube" BROAD [DOID:1964, NCIT:C3032] synonym: "tumor, fallopian tube, malignant" EXACT [DOID:1964, NCIT:C7480] synonym: "tumour of the fallopian tube" BROAD OMO:0003005 [] xref: DOID:1964 {source="MONDO:equivalentTo"} xref: ICD9:183.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1964"} xref: MedDRA:10025915 {source="Orphanet:180242", source="Orphanet:180242/e"} xref: NCIT:C7480 {source="MONDO:equivalentTo", source="DOID:1964"} xref: Orphanet:180242 {source="MONDO:equivalentTo"} xref: SCTID:363444001 {source="MONDO:equivalentTo", source="DOID:1964"} xref: UMLS:C0153579 {source="MONDO:equivalentTo", source="DOID:1964", source="Orphanet:180242", source="NCIT:C7480", source="Orphanet:180242/e"} xref: UMLS:CN200469 {source="MONDO:equivalentTo"} is_a: EFO:1001331 {source="DOID:1964", source="MONDO:Redundant", source="NCIT:C7480"} ! Genital neoplasm, female is_a: MONDO:0021092 {source="MONDO:Redundant", source="NCIT:C7480"} ! fallopian tube neoplasm property_value: closeMatch http://identifiers.org/meddra/10025915 property_value: exactMatch DOID:1964 property_value: exactMatch http://identifiers.org/snomedct/363444001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153579 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200469 property_value: exactMatch NCIT:C7480 property_value: exactMatch Orphanet:180242 [Term] id: MONDO:0002165 name: rectal neoplasm def: "A benign or malignant neoplasm that affects the rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." [NCIT:C3350] synonym: "neoplasm of rectum" EXACT [MONDO:patterns/neoplasm, NCIT:C3350] synonym: "neoplasm of the rectum" EXACT [NCIT:C3350] synonym: "rectal neoplasm" EXACT [NCIT:C3350] synonym: "rectal tumor" EXACT [DOID:1984, NCIT:C3350] synonym: "rectal tumour" EXACT OMO:0003005 [] synonym: "rectum neoplasm" EXACT [DOID:1984] synonym: "rectum neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "rectum tumor" EXACT [MONDO:patterns/neoplasm] synonym: "rectum tumour" EXACT OMO:0003005 [] synonym: "tumor of rectum" EXACT [MONDO:patterns/neoplasm, NCIT:C3350] synonym: "tumor of the rectum" EXACT [NCIT:C3350] synonym: "tumour of rectum" EXACT OMO:0003005 [] synonym: "tumour of the rectum" EXACT OMO:0003005 [] xref: DOID:1984 {source="MONDO:equivalentTo"} xref: MESH:D012004 {source="DOID:1984", source="MONDO:equivalentTo"} xref: NCIT:C3350 {source="DOID:1984", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:126847008 {source="DOID:1984", source="MONDO:equivalentTo"} xref: UMLS:C0034885 {source="NCIT:C3350", source="DOID:1984", source="MONDO:equivalentTo"} is_a: EFO:0004142 {source="MESH:D012004", source="NCIT:C3350"} ! colorectal neoplasm is_a: EFO:0009685 {source="MESH:D012004/inferred", source="MONDO:Redundant"} ! rectal disease property_value: exactMatch DOID:1984 property_value: exactMatch http://identifiers.org/mesh/D012004 property_value: exactMatch http://identifiers.org/snomedct/126847008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034885 property_value: exactMatch NCIT:C3350 [Term] id: MONDO:0002167 name: rectum malignant melanoma def: "An aggressive malignant melanocytic neoplasm that arises from the rectum." [NCIT:C4640] synonym: "malignant melanoma of rectum" EXACT [NCIT:C4640] synonym: "malignant melanoma of the rectum" EXACT [NCIT:C4640] synonym: "melanoma (disease) of rectum" EXACT [] synonym: "melanoma of rectum" EXACT [DOID:1992, NCIT:C4640] synonym: "melanoma of the rectum" EXACT [NCIT:C4640] synonym: "rectal malignant melanoma" EXACT [NCIT:C4640] synonym: "rectal melanoma" EXACT [NCIT:C4640] synonym: "rectum melanoma" EXACT [] synonym: "rectum melanoma (disease)" EXACT [MONDO:patterns/location] xref: DOID:1992 {source="MONDO:equivalentTo"} xref: NCIT:C4640 {source="DOID:1992", source="MONDO:equivalentTo"} xref: SCTID:276822007 {source="DOID:1992", source="MONDO:equivalentTo"} xref: UMLS:C0349539 {source="DOID:1992", source="MONDO:equivalentTo", source="NCIT:C4640"} is_a: EFO:1000657 {source="DOID:1992", source="NCIT:C4640"} ! rectum cancer is_a: MONDO:0045070 ! digestive system melanoma property_value: exactMatch DOID:1992 property_value: exactMatch http://identifiers.org/snomedct/276822007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349539 property_value: exactMatch NCIT:C4640 [Term] id: MONDO:0002171 name: giant cell tumor def: "A benign, intermediate, or malignant tumor that arises from the bone or soft tissue. It is characterized by the presence of multinucleated osteoclast-like giant cells." [NCIT:C3055] comment: editor note: consider separate term for neoplasm (C3055 in NCIT) synonym: "giant cell neoplasm" EXACT [DOID:200, NCIT:C7069] synonym: "giant cell tumor" EXACT [NCIT:C3055] synonym: "giant cell tumor (morphologic abnormality)" EXACT [DOID:200] synonym: "giant cell tumor (qualifier value)" EXACT [DOID:200] synonym: "giant cell tumor NOS (morphologic abnormality)" EXACT [DOID:200] synonym: "giant cell tumors" RELATED [DOID:200] synonym: "giant cell tumors (morphologic abnormality)" EXACT [DOID:200] synonym: "giant cell tumour (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "giant cell tumour (qualifier value)" EXACT OMO:0003005 [] synonym: "giant cell tumour NOS (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "giant cell tumours" RELATED OMO:0003005 [] synonym: "giant cell tumours (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "tumor of the giant cell" EXACT [DOID:200, NCIT:C3055] synonym: "tumour of the giant cell" EXACT OMO:0003005 [] xref: DOID:200 {source="MONDO:equivalentTo"} xref: MESH:D005870 {source="MONDO:equivalentTo", source="DOID:200"} xref: NCIT:C3055 {source="MONDO:equivalentTo", source="DOID:200"} xref: SCTID:443790001 {source="MONDO:equivalentTo", source="DOID:200"} xref: UMLS:C0017525 {source="NCIT:C3055", source="MONDO:equivalentTo", source="DOID:200"} is_a: EFO:0000616 {source="DOID:200/inferred", source="MESH:D005870/inferred", source="NCIT:C3055/inferred"} ! neoplasm property_value: exactMatch DOID:200 property_value: exactMatch http://identifiers.org/mesh/D005870 property_value: exactMatch http://identifiers.org/snomedct/443790001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017525 property_value: exactMatch NCIT:C3055 [Term] id: MONDO:0002172 name: otosalpingitis def: "An inflammatory disease involving a pathogenic inflammatory response in the pharyngotympanic tube." [MONDO:patterns/inflammatory_disease_by_site] synonym: "Eustachian salpingitis" EXACT [DOID:2000, ICD9CM:381.5] synonym: "Eustachian tube salpingitis" EXACT [DOID:2000] synonym: "inflammation of pharyngotympanic tube" EXACT [] synonym: "pharyngotympanic tube inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:2000 {source="MONDO:equivalentTo"} xref: ICD10CM:H68.0 {source="DOID:2000", source="MONDO:equivalentTo"} xref: ICD9:381.5 {source="DOID:2000"} xref: ICD9:381.50 {source="DOID:2000", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:270491006 {source="DOID:2000", source="MONDO:equivalentTo"} xref: UMLS:C0155428 {source="DOID:2000", source="MONDO:equivalentTo"} is_a: EFO:0004992 ! Otitis media is_a: EFO:0009667 {source="DOID:2000", source="MONDO:Redundant"} ! eustachian tube disease property_value: exactMatch DOID:2000 property_value: exactMatch http://identifiers.org/snomedct/270491006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155428 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H68.0 [Term] id: MONDO:0002175 name: degeneration of macula and posterior pole synonym: "degeneration of macula and posterior pole of retina" EXACT [DOID:2007, ICD9CM:362.5] synonym: "degeneration of macula or posterior pole" EXACT [DOID:2007] xref: DOID:2007 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.3 {source="MONDO:equivalentTo", source="DOID:2007"} xref: ICD9:362.5 {source="DOID:2007"} xref: SCTID:267611002 {source="MONDO:equivalentTo", source="DOID:2007"} xref: UMLS:C0339436 {source="MONDO:equivalentTo", source="DOID:2007"} is_a: EFO:0009606 {source="DOID:2007"} ! macular degeneration property_value: exactMatch DOID:2007 property_value: exactMatch http://identifiers.org/snomedct/267611002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339436 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H35.3 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002177 name: hyperinsulinism def: "Abnormally high levels of insulin in the blood." [NCIT:P378] synonym: "hyperinsulinemia" EXACT [DOID:2018] synonym: "hyperinsulinism" EXACT [MONDO:ambiguous] synonym: "hyperinsulinism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:2018 {source="MONDO:equivalentTo"} xref: HP:0000842 {source="MONDO:otherHierarchy"} xref: ICD9:251.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D006946 {source="MONDO:equivalentTo", source="DOID:2018"} xref: SCTID:83469008 {source="MONDO:equivalentTo", source="DOID:2018"} xref: UMLS:C0020459 {source="MONDO:equivalentTo", source="DOID:2018"} is_a: EFO:0009406 {source="DOID:2018", source="MESH:D006946", source="MONDO:Entailed", source="MONDO:Redundant"} ! glucose metabolism disease is_a: MONDO:0001933 {source="DOID:2018"} ! endocrine pancreas disorder property_value: exactMatch DOID:2018 property_value: exactMatch http://identifiers.org/mesh/D006946 property_value: exactMatch http://identifiers.org/snomedct/83469008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020459 property_value: IAO:0000589 "hyperinsulinism (disease)" xsd:string [Term] id: MONDO:0002178 name: placenta cancer def: "A malignant neoplasm involving the placenta." [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of placenta" EXACT [MONDO:patterns/cancer] synonym: "deciduoma, malignant" EXACT [NCIT:C3555] synonym: "malignant neoplasm of placenta" EXACT [DOID:2021, ICD9CM:181, MONDO:patterns/cancer] synonym: "malignant neoplasm of the placenta" EXACT [NCIT:C3555] synonym: "malignant placenta neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant placenta tumor" EXACT [NCIT:C3555] synonym: "malignant placenta tumour" EXACT OMO:0003005 [] synonym: "malignant placental neoplasm" EXACT [NCIT:C3555] synonym: "malignant placental tumor" EXACT [DOID:2021, NCIT:C3555] synonym: "malignant placental tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of placenta" EXACT [NCIT:C3555] synonym: "malignant tumor of the placenta" EXACT [NCIT:C3555] synonym: "malignant tumour of placenta" EXACT OMO:0003005 [] synonym: "malignant tumour of the placenta" EXACT OMO:0003005 [] synonym: "placenta cancer" EXACT [MONDO:patterns/location] synonym: "placental cancer" EXACT [DOID:2021] synonym: "placental tumors" BROAD [DOID:2021, NCIT:C4858] synonym: "placental tumours" BROAD OMO:0003005 [] synonym: "primary malignant neoplasm of placenta" EXACT [DOID:2021] xref: DOID:2021 {source="MONDO:equivalentTo"} xref: ICD9:181 {source="DOID:2021", source="MONDO:relatedTo"} xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C3555 {source="DOID:2021", source="MONDO:equivalentTo"} xref: SCTID:126920004 {source="MONDO:equivalentTo"} xref: UMLS:C0153572 {source="DOID:2021", source="MONDO:equivalentTo", source="NCIT:C3555"} is_a: MONDO:0002715 ! uterine cancer is_a: MONDO:0021218 {source="MONDO:Redundant", source="NCIT:C3555"} ! placenta neoplasm property_value: exactMatch DOID:2021 property_value: exactMatch http://identifiers.org/snomedct/126920004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153572 property_value: exactMatch NCIT:C3555 [Term] id: MONDO:0002181 name: exostosis def: "Non-neoplastic overgrowth of bone." [NCIT:C3029] comment: Editor note: compare with osteophyte synonym: "bone osteophyte" EXACT [] synonym: "bone spur" EXACT [DOID:203, NCIT:C3029] synonym: "bony outgrowth" EXACT [DOID:203] synonym: "exostosis" EXACT [NCIT:C3029] synonym: "orbital exostosis" NARROW [DOID:203] synonym: "osteophyte" EXACT [DOID:203] synonym: "swimmer's exostosis" NARROW [DOID:203] xref: DOID:203 {source="MONDO:equivalentTo"} xref: ICD9:726.91 {source="DOID:203", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3029 {source="DOID:203", source="MONDO:equivalentTo"} xref: SCTID:235231000119100 {source="MONDO:equivalentTo"} xref: SCTID:416189003 {source="DOID:203", source="MONDO:equivalentTo"} xref: UMLS:C1442903 {source="DOID:203", source="MONDO:equivalentTo", source="NCIT:C3029"} xref: UMLS:C1956089 {source="MONDO:equivalentTo"} is_a: MONDO:0002185 {source="DOID:203"} ! hyperostosis property_value: exactMatch DOID:203 property_value: exactMatch http://identifiers.org/snomedct/235231000119100 property_value: exactMatch http://identifiers.org/snomedct/416189003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1442903 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1956089 property_value: exactMatch NCIT:C3029 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002182 name: communication disorder def: "A disorder characterized by an individual's inability to comprehend or share ideas or feelings because of an impairment in language, speech, or hearing." [NCIT:P378] subset: gard_rare synonym: "communicative disorders" EXACT [NCIT:C2958] xref: DOID:2033 {source="MONDO:equivalentTo"} xref: ICD9:307.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D003147 {source="DOID:2033", source="MONDO:equivalentTo"} xref: NCIT:C2958 {source="DOID:2033", source="MONDO:equivalentTo"} xref: SCTID:278919001 {source="DOID:2033", source="MONDO:equivalentTo"} is_a: MONDO:0000592 {source="DOID:2033"} ! specific developmental disorder property_value: exactMatch DOID:2033 property_value: exactMatch http://identifiers.org/mesh/D003147 property_value: exactMatch http://identifiers.org/snomedct/278919001 property_value: exactMatch NCIT:C2958 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3857/muscular-fibrosis-multifocal-obstructed-vessels xsd:anyURI {source="GARD:0003857"} [Term] id: MONDO:0002185 name: hyperostosis def: "Excessive thickening of bone." [NCIT:P378] synonym: "bone hypertrophy" EXACT [DOID:205, NCIT:C34712] synonym: "hypertrophy of bone" EXACT [DOID:205] synonym: "hypertrophy of bone (morphologic abnormality)" EXACT [DOID:205] xref: DOID:205 {source="MONDO:equivalentTo"} xref: ICD9:733.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D015576 {source="DOID:205", source="MONDO:equivalentTo"} xref: NCIT:C34712 {source="DOID:205", source="MONDO:equivalentTo"} xref: SCTID:203514008 {source="DOID:205", source="MONDO:equivalentTo"} xref: UMLS:C0020492 {source="DOID:205", source="MONDO:equivalentTo", source="NCIT:C34712"} is_a: MONDO:0000833 {source="DOID:205"} ! bone remodeling disease property_value: exactMatch DOID:205 property_value: exactMatch http://identifiers.org/mesh/D015576 property_value: exactMatch http://identifiers.org/snomedct/203514008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020492 property_value: exactMatch NCIT:C34712 [Term] id: MONDO:0002187 name: vulvar disease def: "A non-neoplastic or neoplastic disorder that affects the vulva. Representative examples include infection, Bartholin gland adenoma, and vulvar carcinoma." [NCIT:P378] synonym: "disorder of vulva" EXACT [] synonym: "vulval disorder" RELATED [] synonym: "vulvar disease" EXACT [NCIT:C27631] synonym: "vulvar disorder" EXACT [NCIT:C27631] xref: DOID:2059 {source="MONDO:equivalentTo"} xref: MESH:D014845 {source="DOID:2059", source="MONDO:equivalentTo"} xref: NCIT:C27631 {source="DOID:2059", source="MONDO:equivalentTo"} xref: SCTID:5089007 {source="DOID:2059", source="MONDO:equivalentTo"} xref: UMLS:C0042994 {source="DOID:2059", source="NCIT:C27631", source="MONDO:equivalentTo"} is_a: EFO:0009549 {source="DOID:2059", source="MESH:D014845", source="NCIT:C27631"} ! female reproductive system disease property_value: exactMatch DOID:2059 property_value: exactMatch http://identifiers.org/mesh/D014845 property_value: exactMatch http://identifiers.org/snomedct/5089007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042994 property_value: exactMatch NCIT:C27631 [Term] id: MONDO:0002191 name: syringoma def: "A benign sweat gland neoplasm usually affecting the lower eyelids and upper cheeks. The lesions are papular and are usually numerous. Morphologically, there are nests, cords, and tubules of epithelial cells present, surrounded by a dense stroma in the reticular dermis." [NCIT:C3761] synonym: "eccrine syringoma" EXACT [NCIT:C3761] synonym: "syringoma" EXACT [NCIT:C3761] xref: DOID:2065 {source="MONDO:equivalentTo"} xref: ICDO:8407/0 {source="NCIT:C3761"} xref: MESH:D018252 {source="DOID:2065", source="MONDO:equivalentTo"} xref: NCIT:C3761 {source="DOID:2065", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:302828001 {source="DOID:2065", source="MONDO:equivalentTo"} xref: UMLS:C0206673 {source="DOID:2065", source="MONDO:equivalentTo", source="NCIT:C3761"} is_a: EFO:1001204 {source="DOID:2065", source="NCIT:C3761/inferred"} ! sweat gland neoplasm property_value: exactMatch DOID:2065 property_value: exactMatch http://identifiers.org/mesh/D018252 property_value: exactMatch http://identifiers.org/snomedct/302828001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206673 property_value: exactMatch NCIT:C3761 [Term] id: MONDO:0002195 name: vulvar squamous neoplasm def: "A benign, precancerous, or malignant neoplasm that arises from the squamous epithelium of the vulva. Representative examples include vestibular papilloma, intraepithelial neoplasia, and squamous cell carcinoma." [NCIT:C40283] synonym: "mammalian vulva squamous cell neoplasm" EXACT [MONDO:patterns/location] synonym: "vulvar squamous neoplasm" EXACT [NCIT:C40283] synonym: "vulvar squamous tumor" EXACT [NCIT:C40283] synonym: "vulvar squamous tumour" EXACT OMO:0003005 [] xref: DOID:2072 {source="MONDO:equivalentTo"} xref: NCIT:C40283 {source="MONDO:equivalentTo", source="DOID:2072"} xref: UMLS:C1520097 {source="MONDO:equivalentTo", source="NCIT:C40283", source="DOID:2072"} is_a: MONDO:0002532 {source="MONDO:Redundant", source="NCIT:C40283"} ! squamous cell neoplasm is_a: MONDO:0021049 {source="MONDO:Redundant", source="NCIT:C40283"} ! vulvar neoplasm property_value: exactMatch DOID:2072 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1520097 property_value: exactMatch NCIT:C40283 [Term] id: MONDO:0002203 name: constipation disorder def: "Irregular and infrequent or difficult evacuation of the bowels." [NCIT:C37930] synonym: "colonic inertia" RELATED [MESH:D003248] synonym: "constipation" EXACT [HP:0002019] synonym: "Dyschezia" RELATED [MESH:D003248] xref: DOID:2089 {source="MONDO:equivalentObsolete"} xref: HP:0002019 {source="MONDO:otherHierarchy"} xref: ICD10CM:K59.0 {source="DOID:2089", source="MONDO:equivalentTo"} xref: ICD9:564.0 {source="DOID:2089", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:564.00 {source="DOID:2089", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D003248 {source="DOID:2089", source="MONDO:equivalentTo"} xref: NCIT:C37930 {source="DOID:2089", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="MONDO:exact-label-match"} xref: SCTID:14760008 {source="DOID:2089", source="MONDO:equivalentTo"} is_a: MONDO:0004880 {source="DOID:2089"} ! bowel dysfunction property_value: exactMatch http://identifiers.org/mesh/D003248 property_value: exactMatch http://identifiers.org/snomedct/14760008 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K59.0 property_value: exactMatch NCIT:C37930 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002206 name: sweat gland cancer def: "A malignant neoplasm that affects the sweat glands." [NCIT:C4810] synonym: "cancer of sweat gland" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of sweat gland" EXACT [DOID:2095, MONDO:patterns/cancer, NCIT:C4810] synonym: "malignant neoplasm of the sweat gland" EXACT [NCIT:C4810] synonym: "malignant sweat gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4810] synonym: "malignant tumor of sweat gland" EXACT [NCIT:C4810] synonym: "malignant tumor of the sweat gland" EXACT [DOID:2095, NCIT:C4810] synonym: "malignant tumour of sweat gland" EXACT OMO:0003005 [] synonym: "malignant tumour of the sweat gland" EXACT OMO:0003005 [] synonym: "sweat gland cancer" EXACT [MONDO:patterns/location] synonym: "sweat gland neoplasms, malignant" EXACT [NCIT:C4810] xref: DOID:2095 {source="MONDO:equivalentTo"} xref: NCIT:C4810 {source="MONDO:equivalentTo", source="DOID:2095"} xref: UMLS:C1321904 {source="MONDO:equivalentTo", source="NCIT:C4810", source="DOID:2095"} is_a: EFO:1001204 {source="MONDO:Redundant", source="NCIT:C4810"} ! sweat gland neoplasm is_a: MONDO:0002898 {source="DOID:2095", source="MONDO:Redundant", source="NCIT:C4810/inferred"} ! skin cancer property_value: exactMatch DOID:2095 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1321904 property_value: exactMatch NCIT:C4810 [Term] id: MONDO:0002211 name: B cell deficiency def: "A broad classification of disorders where circulating numbers of B lymphocytes are decreased or ineffective. Complement components and the production of antibodies may also be deficient." [NCIT:C4799] comment: See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/18 synonym: "B cell (antibody) deficiencies" EXACT [DOID:2115] synonym: "B-cell deficiency" EXACT [NCIT:C4799] synonym: "deficiency of humoral immunity" EXACT [NCIT:C4799] synonym: "immunoglobulin heavy chain deficiency" RELATED [DOID:2115] synonym: "immunoglobulin heavy chain deletion" RELATED [DOID:2115] xref: DOID:2115 {source="MONDO:equivalentTo"} xref: ICD9:279.03 {source="DOID:2115"} xref: NCIT:C4799 {source="MONDO:equivalentTo", source="NCIT:C4799"} is_a: MONDO:0003778 {source="DOID:2115"} ! inborn error of immunity is_a: MONDO:0004805 ! leukocyte disorder is_a: MONDO:0021094 {source="NCIT:C4799"} ! immunodeficiency disease property_value: exactMatch DOID:2115 property_value: exactMatch NCIT:C4799 [Term] id: MONDO:0002217 name: central nervous system sarcoma def: "A sarcoma that arises from the central nervous system." [NCIT:C5153] synonym: "central nervous system sarcoma" EXACT [MONDO:patterns/location, NCIT:C5153] synonym: "CNS sarcoma" EXACT [NCIT:C5153] synonym: "sarcoma of central nervous system" EXACT [MONDO:patterns/sarcoma, NCIT:C5153] synonym: "sarcoma of CNS" EXACT [NCIT:C5153] synonym: "sarcoma of the central nervous system" EXACT [NCIT:C5153] synonym: "sarcoma of the CNS" EXACT [DOID:2133, NCIT:C5153] xref: DOID:2133 {source="MONDO:equivalentTo"} xref: NCIT:C5153 {source="DOID:2133", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1332892 {source="DOID:2133", source="NCIT:C5153", source="MONDO:equivalentTo"} is_a: EFO:0000326 {source="DOID:2133", source="MONDO:Redundant", source="NCIT:C5153/inferred"} ! central nervous system cancer is_a: EFO:1001968 {source="NCIT:C5153"} ! soft tissue sarcoma property_value: exactMatch DOID:2133 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332892 property_value: exactMatch NCIT:C5153 [Term] id: MONDO:0002220 name: tooth hard tissue disease synonym: "disorder of hard tissues of teeth" EXACT [] synonym: "teeth hard tissue disease" RELATED [DOID:214] synonym: "teeth hard tissue diseases" RELATED [] xref: DOID:214 {source="MONDO:equivalentTo"} xref: ICD10CM:K03 {source="MONDO:equivalentTo"} xref: ICD9:521.8 {source="DOID:214"} xref: ICD9:521.89 {source="DOID:214"} xref: SCTID:46557008 {source="MONDO:equivalentTo"} xref: UMLS:C0155926 {source="MONDO:equivalentTo"} is_a: EFO:1001216 {source="DOID:214"} ! tooth disease property_value: exactMatch DOID:214 property_value: exactMatch http://identifiers.org/snomedct/46557008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155926 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K03 [Term] id: MONDO:0002225 name: ovarian sarcoma def: "A rare, aggressive malignant mesenchymal neoplasm that arises from the ovary. The prognosis is poor." [NCIT:C8267] synonym: "ovarian sarcoma" EXACT [NCIT:C8267] synonym: "ovary sarcoma" EXACT [MONDO:patterns/location] synonym: "sarcoma of ovary" EXACT [DOID:2146, MONDO:patterns/sarcoma, NCIT:C8267] synonym: "sarcoma of the ovary" EXACT [NCIT:C8267] xref: DOID:2146 {source="MONDO:equivalentTo"} xref: NCIT:C8267 {source="DOID:2146", source="MONDO:equivalentTo"} xref: SCTID:423627007 {source="DOID:2146", source="MONDO:equivalentTo"} xref: UMLS:C0280746 {source="NCIT:C8267", source="DOID:2146", source="MONDO:equivalentTo"} is_a: EFO:1001968 {source="NCIT:C8267"} ! soft tissue sarcoma is_a: MONDO:0008170 {source="DOID:2146", source="MONDO:Redundant", source="NCIT:C8267"} ! ovarian cancer property_value: exactMatch DOID:2146 property_value: exactMatch http://identifiers.org/snomedct/423627007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280746 property_value: exactMatch NCIT:C8267 [Term] id: MONDO:0002229 name: ovarian epithelial tumor def: "A benign, borderline, or malignant tumor that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples of benign tumors include serous cystadenoma, mucinous cystadenoma, and benign Brenner tumor. Representative examples of borderline tumors include serous surface papillary tumor, mucinous adenofibroma, and borderline Brenner tumor. Representative examples of malignant tumors include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, and malignant Brenner tumor." [NCIT:C4381] synonym: "epithelial neoplasm of ovary" EXACT [NCIT:C4381] synonym: "epithelial neoplasm of the ovary" EXACT [NCIT:C4381] synonym: "epithelial tumor of ovary" EXACT [DOID:2152, NCIT:C4381] synonym: "epithelial tumor of the ovary" EXACT [NCIT:C4381] synonym: "epithelial tumour of ovary" EXACT OMO:0003005 [] synonym: "epithelial tumour of the ovary" EXACT OMO:0003005 [] synonym: "ovarian epithelial tumor" EXACT [NCIT:C4381] synonym: "ovarian surface epithelial-stromal tumor" EXACT [DOID:2152, NCIT:C4381] synonym: "ovarian surface epithelial-stromal tumour" EXACT OMO:0003005 [] synonym: "ovarian surface-epithelial stromal neoplasm" EXACT [NCIT:C4381] synonym: "ovary epithelial cancer" RELATED [DOID:2152] synonym: "ovary epithelial neoplasm" EXACT [MONDO:patterns/location] synonym: "OVT" RELATED ABBREVIATION [ONCOTREE:OVT] xref: DOID:2152 {source="MONDO:equivalentTo"} xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4381 {source="MONDO:equivalentTo", source="DOID:2152"} xref: ONCOTREE:OVT {source="MONDO:equivalentTo"} xref: SCTID:237057005 {source="MONDO:equivalentTo", source="DOID:2152"} xref: UMLS:C0341823 {source="NCIT:C4381", source="MONDO:equivalentTo", source="DOID:2152"} is_a: EFO:0003893 {source="MONDO:Redundant", source="NCIT:C4381"} ! ovarian neoplasm is_a: EFO:0006858 {source="MONDO:Redundant", source="NCIT:C4381"} ! epithelial neoplasm property_value: exactMatch DOID:2152 property_value: exactMatch http://identifiers.org/snomedct/237057005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341823 property_value: exactMatch NCIT:C4381 [Term] id: MONDO:0002232 name: nasal cavity disorder def: "A disease involving the nasal cavity." [https://orcid.org/0000-0002-6601-2165] synonym: "disease of nasal cavity" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of nasal cavity" EXACT [] synonym: "disorder of nasal cavity" EXACT [MONDO:patterns/location_top] synonym: "nasal cavity disease" EXACT [MONDO:patterns/location, NCIT:C27102] synonym: "nasal cavity disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "nasal cavity disorder" EXACT [NCIT:C27102] xref: DOID:2163 {source="MONDO:equivalentTo"} xref: NCIT:C27102 {source="MONDO:equivalentTo", source="DOID:2163"} xref: SCTID:232340005 {source="MONDO:equivalentTo", source="DOID:2163"} xref: UMLS:C0339820 {source="NCIT:C27102", source="MONDO:equivalentTo", source="DOID:2163"} is_a: MONDO:0002436 {source="DOID:2163", source="MONDO:Redundant"} ! nasal disorder is_a: MONDO:0004867 {source="DOID:2163/inferred", source="MONDO:Redundant"} ! upper respiratory tract disorder property_value: exactMatch DOID:2163 property_value: exactMatch http://identifiers.org/snomedct/232340005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339820 property_value: exactMatch NCIT:C27102 [Term] id: MONDO:0002233 name: enamel caries def: "A dental caries that involves the enamel." [MONDO:patterns/location] synonym: "dental caries limited to enamel" EXACT [DOID:217, ICD9CM:521.01] synonym: "dental caries of enamel" EXACT [MONDO:design_pattern] synonym: "enamel dental caries" EXACT [MONDO:patterns/location] synonym: "primary dental caries" EXACT [DOID:217] synonym: "simple dental cavity" EXACT [DOID:217] xref: DOID:217 {source="MONDO:equivalentTo"} xref: ICD9:521.01 {source="DOID:217", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:80353004 {source="DOID:217", source="MONDO:equivalentTo"} xref: UMLS:C0266853 {source="DOID:217", source="MONDO:equivalentTo"} is_a: EFO:0003819 {source="DOID:217", source="MONDO:Redundant"} ! dental caries property_value: exactMatch DOID:217 property_value: exactMatch http://identifiers.org/snomedct/80353004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266853 [Term] id: MONDO:0002234 name: vaginitis def: "A non-infectious or infectious inflammatory process affecting the vagina." [NCIT:C26911] synonym: "inflammation of vagina" EXACT [] synonym: "vagina inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "vaginal Inflammation" EXACT [NCIT:C26911] synonym: "vaginal inflammation" EXACT [NCIT:C26911] synonym: "vaginitis" EXACT [MONDO:ambiguous, NCIT:C26911] synonym: "vaginitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:2170 {source="MONDO:equivalentTo"} xref: EFO:0005757 {source="MONDO:equivalentTo"} xref: HP:0030683 {source="MONDO:otherHierarchy"} xref: ICD9:616.1 {source="DOID:2170"} xref: ICD9:616.10 {source="DOID:2170"} xref: MESH:D014627 {source="MONDO:equivalentTo", source="DOID:2170"} xref: NCIT:C26911 {source="MONDO:equivalentTo", source="DOID:2170"} xref: SCTID:30800001 {source="MONDO:equivalentTo", source="DOID:2170"} xref: UMLS:C0042267 {source="MONDO:equivalentTo", source="DOID:2170", source="NCIT:C26911"} is_a: EFO:0009903 ! inflammatory disease is_a: MONDO:0001433 {source="DOID:2170", source="MESH:D014627", source="MONDO:Redundant", source="NCIT:C26911/inferred"} ! vaginal disorder property_value: exactMatch DOID:2170 property_value: exactMatch http://identifiers.org/mesh/D014627 property_value: exactMatch http://identifiers.org/snomedct/30800001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042267 property_value: exactMatch NCIT:C26911 property_value: IAO:0000589 "vaginitis (disease)" xsd:string [Term] id: MONDO:0002236 name: ocular cancer def: "A benign or malignant neoplasm affecting the structures of the eye." [NCIT:P378] comment: Editor note: check to see whether structure is eye or eye + adnexa synonym: "cancer of eye" EXACT [MONDO:patterns/cancer, NCIT:C4767] synonym: "cancer of eyeball of camera-type eye" EXACT [MONDO:patterns/cancer] synonym: "cancer of the eye" EXACT [NCIT:C4767] synonym: "eye cancer" EXACT [MONDO:patterns/location, NCIT:C4767] synonym: "eye neoplasm" BROAD [DOID:2174] synonym: "eye neoplasm, malignant" EXACT [NCIT:C4767] synonym: "eyeball of camera-type eye cancer" EXACT [] synonym: "malignant eye neoplasm" EXACT [DOID:2174, MONDO:patterns/cancer, NCIT:C4767] synonym: "malignant eye tumor" EXACT [NCIT:C4767] synonym: "malignant eye tumour" EXACT OMO:0003005 [] synonym: "malignant eyeball of camera-type eye neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of eye" EXACT [MONDO:patterns/cancer, NCIT:C4767] synonym: "malignant neoplasm of eyeball of camera-type eye" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the eye" EXACT [NCIT:C4767] synonym: "malignant ocular neoplasm" EXACT [NCIT:C4767] synonym: "malignant ocular tumor" EXACT [NCIT:C4767] synonym: "malignant ocular tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of eye" EXACT [NCIT:C4767] synonym: "malignant tumor of the eye" EXACT [NCIT:C4767] synonym: "malignant tumour of eye" EXACT OMO:0003005 [] synonym: "malignant tumour of the eye" EXACT OMO:0003005 [] synonym: "neoplasm of eye" BROAD [DOID:2174] synonym: "neoplasm of eye proper" RELATED [DOID:2174] synonym: "ocular tumor" BROAD [DOID:2174, NCIT:C3030] synonym: "ocular tumour" BROAD OMO:0003005 [] xref: DOID:2174 {source="MONDO:equivalentTo"} xref: ICD9:190.8 {source="DOID:2174"} xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D005134 {source="MONDO:equivalentTo", source="DOID:2174"} xref: NCIT:C4767 {source="MONDO:equivalentTo"} xref: SCTID:371486001 {source="MONDO:equivalentTo", source="DOID:2174"} is_a: EFO:0003824 {source="MONDO:Redundant", source="NCIT:C4767"} ! eye neoplasm is_a: EFO:0006859 ! head and neck malignant neoplasia is_a: MONDO:0000649 {source="DOID:2174", source="MONDO:Entailed", source="MONDO:Redundant"} ! sensory system cancer property_value: exactMatch DOID:2174 property_value: exactMatch http://identifiers.org/mesh/D005134 property_value: exactMatch http://identifiers.org/snomedct/371486001 property_value: exactMatch NCIT:C4767 [Term] id: MONDO:0002241 name: factor XIII deficiency def: "An acquired or inherited coagulation disorder due to reduced levels and activity of factor XIII." [MONDO:cjm] synonym: "FXIIID" EXACT ABBREVIATION [MONDO:cjm] xref: MESH:D005177 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} is_a: MONDO:0002242 {source="MONDO:cjm"} ! coagulation protein disease property_value: exactMatch http://identifiers.org/mesh/D005177 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5537 xsd:anyURI [Term] id: MONDO:0002242 name: coagulation protein disease def: "Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding." [NCIT:C27215] synonym: "coagulation factor deficiency" EXACT [NCIT:C27215] synonym: "coagulation factor deficiency syndrome" EXACT [NCIT:C27215] xref: DOID:2212 {source="MONDO:equivalentObsolete"} xref: MESH:D020147 {source="DOID:2212", source="MONDO:equivalentTo"} xref: NCIT:C27215 {source="MONDO:equivalentTo"} xref: SCTID:86075001 {source="MONDO:equivalentTo"} xref: UMLS:C0600503 {source="DOID:2212", source="MONDO:equivalentTo"} is_a: EFO:0009314 {source="DOID:2212", source="MESH:D020147", source="NCIT:C27215"} ! blood coagulation disease property_value: exactMatch http://identifiers.org/mesh/D020147 property_value: exactMatch http://identifiers.org/snomedct/86075001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0600503 property_value: exactMatch NCIT:C27215 [Term] id: MONDO:0002243 name: hemorrhagic disease def: "Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (hemostatic disorders)." [MESH:D006474] synonym: "bleeding diathesis" EXACT [NCIT:C115221] synonym: "bleeding disorder" EXACT [MONDO:cjm] synonym: "bleeding predisposition" EXACT [NCIT:C115221] synonym: "bleeding tendency" EXACT [NCIT:C115221] synonym: "hemorrhagic diathesis" EXACT [DOID:2213] synonym: "hemorrhagic disease" EXACT [DOID:2213] xref: DOID:2213 {source="MONDO:equivalentTo"} xref: ICD9:287.9 {source="DOID:2213"} xref: MESH:D006474 {source="DOID:2213", source="MONDO:equivalentTo"} xref: NCIT:C115221 {source="MONDO:equivalentTo"} is_a: EFO:0005803 {source="DOID:2213/inferred", source="MESH:D006474", source="NCIT:C115221/inferred"} ! hematologic disease property_value: exactMatch DOID:2213 property_value: exactMatch http://identifiers.org/mesh/D006474 property_value: exactMatch NCIT:C115221 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002244 name: factor VII deficiency def: "A coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood." [NCIT:C131631] synonym: "deficiency, stable" EXACT [DOID:2215] synonym: "F7 deficiency" EXACT [OMIM:227500] synonym: "factor 7 deficiency" EXACT [MESH:D005168] synonym: "factor VII deficiency" EXACT [DOID:2215] xref: ICD9:286.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D005168 {source="MONDO:equivalentTo"} xref: SCTID:37193007 {source="MONDO:equivalentTo"} xref: UMLS:C0015503 {source="MONDO:equivalentTo"} is_a: MONDO:0002242 {source="MESH:D005168"} ! coagulation protein disease is_a: MONDO:0002243 {source="MESH:D005168"} ! hemorrhagic disease property_value: exactMatch http://identifiers.org/mesh/D005168 property_value: exactMatch http://identifiers.org/snomedct/37193007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015503 [Term] id: MONDO:0002245 name: blood platelet disease def: "Disorders caused by abnormalities in platelet count or function." [MESH:D001791] synonym: "platelet abnormality" EXACT [NCIT:C131634] synonym: "platelet disorder" EXACT [MONDO:cjm, NCIT:C131634] synonym: "thrombocytopathy" RELATED [] xref: MESH:D001791 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: NCIT:C131634 {source="MONDO:equivalentTo"} xref: SCTID:22716005 {source="MONDO:equivalentTo"} is_a: EFO:0005803 {source="MESH:D001791"} ! hematologic disease property_value: exactMatch http://identifiers.org/mesh/D001791 property_value: exactMatch http://identifiers.org/snomedct/22716005 property_value: exactMatch NCIT:C131634 [Term] id: MONDO:0002246 name: perichondritis of auricle def: "An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it." [DOID:222, http://www.merck.com/mmhe/sec19/ch219/ch219d.html?qt=perichondritis&alt=sh, http://www.nlm.nih.gov/medlineplus/ency/article/001253.htm] synonym: "perichondritis and chondritis of pinna" EXACT [DOID:222, ICD9CM:380.0] synonym: "perichondritis of pinna" EXACT [DOID:222] synonym: "perichondritis of pinna, unspecified" EXACT [DOID:222, ICD9CM:380.00] xref: DOID:222 {source="MONDO:equivalentTo"} xref: ICD9:380.0 {source="DOID:222"} xref: ICD9:380.00 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:222"} xref: SCTID:34129005 {source="MONDO:equivalentTo", source="DOID:222"} xref: UMLS:C0155389 {source="MONDO:equivalentTo", source="DOID:222"} is_a: EFO:0009560 {source="DOID:222"} ! otitis externa property_value: exactMatch DOID:222 property_value: exactMatch http://identifiers.org/snomedct/34129005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155389 [Term] id: MONDO:0002247 name: factor X deficiency def: "A coagulation disorder characterized by the partial or complete absence of factor X activity in the blood." [NCIT:C131632] xref: MESH:D005171 {source="MONDO:equivalentTo"} xref: NCIT:C131632 {source="MONDO:equivalentTo"} xref: SCTID:76642003 {source="https://github.com/monarch-initiative/mondo/issues/2944", source="MONDO:equivalentTo"} is_a: MONDO:0002242 {source="MESH:D005171"} ! coagulation protein disease is_a: MONDO:0002243 {source="MESH:D005171"} ! hemorrhagic disease property_value: exactMatch http://identifiers.org/mesh/D005171 property_value: exactMatch http://identifiers.org/snomedct/76642003 property_value: exactMatch NCIT:C131632 [Term] id: MONDO:0002249 name: thrombocytosis disease def: "A disease characterized by higher than normal platelet counts in the peripheral blood." [MONDO:cjm] synonym: "elevated Platelet count" EXACT [NCIT:C35530] synonym: "Platelet count increased" EXACT [NCIT:C35530] synonym: "Thrombocythaemia" EXACT [DOID:2228, OMIMPS:187950] synonym: "thrombocytosis" RELATED [DOID:2228] xref: DOID:2228 {source="MONDO:equivalentTo"} xref: ICD9:289.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D013922 {source="MONDO:equivalentTo", source="DOID:2228"} xref: NCIT:C35530 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:2228", source="MONDO:exact-label-match"} xref: SCTID:6631009 {source="MONDO:equivalentTo", source="DOID:2228"} xref: UMLS:C0836924 {source="MONDO:equivalentTo", source="DOID:2228"} is_a: MONDO:0002245 {source="DOID:2228", source="MESH:D013922"} ! blood platelet disease property_value: exactMatch DOID:2228 property_value: exactMatch http://identifiers.org/mesh/D013922 property_value: exactMatch http://identifiers.org/snomedct/6631009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0836924 property_value: exactMatch NCIT:C35530 [Term] id: MONDO:0002253 name: spondylosis def: "A degenerative spinal disease that can involve any part of the vertebra, the intervertebral disk, and the surrounding soft tissue." [MESH:D055009] synonym: "lumbar spondylosis with myelopathy" EXACT [DOID:2247] synonym: "lumbosacral spondylosis without myelopathy" EXACT [DOID:2247] synonym: "spondylogenic compression of lumbar spinal cord" EXACT [DOID:2247] synonym: "spondylogenic compression of thoracic spinal cord" EXACT [DOID:2247] synonym: "spondylosis with myelopathy" EXACT [DOID:2247] synonym: "thoracic or lumbar spondylosis with myelopathy" EXACT [DOID:2247] xref: DOID:2247 {source="MONDO:equivalentTo"} xref: ICD10CM:M47 {source="MONDO:equivalentTo", source="DOID:2247"} xref: ICD9:721.3 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:721.9 {source="DOID:2247"} xref: MESH:D055009 {source="MONDO:equivalentTo", source="DOID:2247"} xref: SCTID:48210000 {source="MONDO:equivalentTo"} xref: SCTID:8847002 {source="MONDO:relatedTo", source="DOID:2247"} xref: UMLS:C0038019 {source="MONDO:equivalentTo", source="DOID:2247"} is_a: MONDO:0000836 {source="DOID:2247"} ! disease of bone structure property_value: exactMatch DOID:2247 property_value: exactMatch http://identifiers.org/mesh/D055009 property_value: exactMatch http://identifiers.org/snomedct/48210000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038019 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/M47 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002254 name: syndromic disease def: "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition." [NCIT:C28193] subset: harrisons_view subset: rare_grouping synonym: "cluster, symptom" EXACT [MESH:D013577] synonym: "clusters, symptom" EXACT [MESH:D013577] synonym: "symptom cluster" EXACT [MESH:D013577] synonym: "symptom clusters" EXACT [MESH:D013577] synonym: "syndrome" EXACT [NCIT:C28193, OGMS:0000086] synonym: "syndrome associated with disease or disorder" EXACT [MONDO:patterns/syndromic] synonym: "syndromes" EXACT [MESH:D013577] synonym: "syndromic disease" EXACT [MONDO:patterns/syndromic] synonym: "syndromic disease or disorder" EXACT [MONDO:patterns/syndromic] xref: DOID:225 {source="MONDO:equivalentTo"} xref: MESH:D013577 {source="DOID:225", source="MONDO:equivalentTo"} xref: NCIT:C28193 {source="DOID:225", source="MONDO:equivalentTo"} xref: OGMS:0000086 {source="MONDO:cjm"} xref: UMLS:C0039082 {source="DOID:225", source="MONDO:equivalentTo", source="NCIT:C28193"} is_a: EFO:0000408 ! disease disjoint_from: MONDO:0011348 ! non-syndromic polydactyly disjoint_from: MONDO:0019530 ! non-syndromic syndactyly relationship: has_characteristic MONDO:0021127 ! has a syndromic presentation property_value: exactMatch DOID:225 property_value: exactMatch http://identifiers.org/mesh/D013577 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039082 property_value: exactMatch NCIT:C28193 [Term] id: MONDO:0002256 name: cervix disorder def: "A non-neoplastic or neoplastic disorder that affects the cervix. Representative examples include cervicitis, endocervical polyp, and carcinoma." [NCIT:P378] synonym: "cervical disorder" EXACT [NCIT:C40241] synonym: "disease of uterine cervix" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of uterine cervix" EXACT [] synonym: "disorder of uterine cervix" EXACT [MONDO:patterns/location_top] synonym: "uterine cervix disease" EXACT [MONDO:patterns/location] synonym: "uterine cervix disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:2253 {source="MONDO:equivalentTo"} xref: MESH:D002577 {source="DOID:2253", source="MONDO:equivalentTo"} xref: NCIT:C40241 {source="DOID:2253", source="MONDO:equivalentTo"} xref: SCTID:63339007 {source="DOID:2253", source="MONDO:equivalentTo"} xref: UMLS:C0007867 {source="DOID:2253", source="MONDO:equivalentTo"} is_a: MONDO:0002654 {source="DOID:2253", source="MESH:D002577", source="MONDO:Redundant", source="NCIT:C40241"} ! uterine disorder property_value: exactMatch DOID:2253 property_value: exactMatch http://identifiers.org/mesh/D002577 property_value: exactMatch http://identifiers.org/snomedct/63339007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007867 property_value: exactMatch NCIT:C40241 [Term] id: MONDO:0002257 name: ankylosis def: "Fixation and immobility of a joint." [MESH:D000844] synonym: "ankylosis" EXACT [MONDO:ambiguous] synonym: "ankylosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:227 {source="MONDO:equivalentTo"} xref: HP:0031013 {source="MONDO:otherHierarchy"} xref: ICD9:718.5 {source="DOID:227"} xref: ICD9:718.50 {source="DOID:227"} xref: MESH:D000844 {source="DOID:227", source="MONDO:equivalentTo"} xref: SCTID:111227009 {source="DOID:227", source="MONDO:equivalentTo"} is_a: EFO:1000999 {source="DOID:227", source="MESH:D000844"} ! joint disease property_value: exactMatch DOID:227 property_value: exactMatch http://identifiers.org/mesh/D000844 property_value: exactMatch http://identifiers.org/snomedct/111227009 property_value: IAO:0000589 "ankylosis (disease)" xsd:string [Term] id: MONDO:0002258 name: pharyngitis def: "Inflammation of the throat most often caused by viral and bacterial infections. Other causes include allergens, chemical substances, and trauma." [NCIT:C26851] synonym: "acute pharyngitis" NARROW [DOID:2275, ICD9CM:462] synonym: "acute sore throat" NARROW [DOID:2275] synonym: "chronic pharyn/nasopharyngitis" NARROW [DOID:2275] synonym: "chronic pharyngitis" NARROW [DOID:2275, ICD9CM:472.1] synonym: "chronic pharyngitis and nasopharyngitis" NARROW [DOID:2275] synonym: "chronic sore throat" NARROW [DOID:2275] synonym: "inflamed throat" EXACT [DOID:2275] synonym: "inflammation of throat" EXACT [] synonym: "persistent sore throat" NARROW [DOID:2275] synonym: "pharyngeal disease" BROAD [DOID:2275] synonym: "pharyngeal disorder" BROAD [DOID:2275] synonym: "pharyngitis - acute" NARROW [DOID:2275] synonym: "Sore throat" EXACT [NCIT:C26851] synonym: "Sore throat - chronic" NARROW [DOID:2275] synonym: "throat inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:2275 {source="MONDO:equivalentTo"} xref: ICD9:462 {source="DOID:2275"} xref: ICD9:472 {source="DOID:2275"} xref: ICD9:478.20 {source="DOID:2275"} xref: MESH:D010612 {source="DOID:2275", source="MONDO:equivalentTo"} xref: NCIT:C26851 {source="DOID:2275", source="MONDO:equivalentTo"} xref: SCTID:405737000 {source="DOID:2275", source="MONDO:equivalentTo"} xref: UMLS:C0031350 {source="DOID:2275", source="MONDO:equivalentTo", source="NCIT:C26851"} is_a: EFO:0009903 {source="MONDO:Redundant"} ! inflammatory disease is_a: MONDO:0004867 {source="DOID:2275"} ! upper respiratory tract disorder property_value: exactMatch DOID:2275 property_value: exactMatch http://identifiers.org/mesh/D010612 property_value: exactMatch http://identifiers.org/snomedct/405737000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031350 property_value: exactMatch NCIT:C26851 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002259 name: gonadal disorder def: "A non-neoplastic or neoplastic disorder that affects the testis or the ovary." [NCIT:P378] synonym: "disease of gonad" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of gonad" EXACT [] synonym: "disorder of gonad" EXACT [MONDO:patterns/location_top] synonym: "disorder of gonads" EXACT [NCIT:C26786] synonym: "gonad disease" EXACT [MONDO:patterns/location] synonym: "gonad disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "gonadal disorder" EXACT [NCIT:C26786] synonym: "gonadal disorders" EXACT [NCIT:C26786] xref: DOID:2277 {source="MONDO:equivalentTo"} xref: MESH:D006058 {source="DOID:2277", source="MONDO:equivalentTo"} xref: NCIT:C26786 {source="DOID:2277", source="MONDO:equivalentTo"} xref: UMLS:C0018050 {source="DOID:2277", source="MONDO:equivalentTo"} is_a: EFO:0000512 ! reproductive system disease is_a: EFO:0001379 {source="DOID:2277", source="MESH:D006058"} ! endocrine system disease property_value: exactMatch DOID:2277 property_value: exactMatch http://identifiers.org/mesh/D006058 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018050 property_value: exactMatch NCIT:C26786 [Term] id: MONDO:0002260 name: hidradenitis def: "An inflammatory disease involving a pathogenic inflammatory response in the apocrine sweat gland." [MONDO:patterns/inflammatory_disease_by_site] synonym: "apocrine sweat gland" EXACT [NCIT:C32132] synonym: "apocrine sweat gland inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "Hydradenitis" EXACT [DOID:2282] synonym: "inflammation of apocrine sweat gland" EXACT [] xref: DOID:2282 {source="MONDO:equivalentTo"} xref: ICD9:705.83 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2282"} xref: MESH:D016575 {source="MONDO:equivalentTo", source="DOID:2282"} xref: NCIT:C32132 {source="MONDO:equivalentTo"} xref: SCTID:69741000 {source="MONDO:equivalentTo", source="DOID:2282"} xref: UMLS:C0085160 {source="MONDO:equivalentTo", source="DOID:2282"} is_a: EFO:0009903 {source="MONDO:Redundant"} ! inflammatory disease is_a: EFO:1002046 ! apocrine sweat gland disease property_value: exactMatch DOID:2282 property_value: exactMatch http://identifiers.org/mesh/D016575 property_value: exactMatch http://identifiers.org/snomedct/69741000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085160 property_value: exactMatch NCIT:C32132 [Term] id: MONDO:0002273 name: plasma protein metabolism disease def: "An inherited metabolic disorder that involves plasma protein metabolism malfunction." [DOID:2345, http://en.wikipedia.org/wiki/Blood_protein] xref: DOID:2345 {source="MONDO:equivalentTo"} xref: ICD9:273.8 {source="DOID:2345"} is_a: MONDO:0019052 {source="DOID:2345"} ! inborn errors of metabolism property_value: exactMatch DOID:2345 [Term] id: MONDO:0002277 name: arteriosclerosis disorder def: "A vascular disorder characterized by thickening and hardening of the walls of the arteries." [NCIT:C34398] synonym: "arterial sclerosis" EXACT [NCIT:C34398] synonym: "arteriosclerosis" EXACT [MONDO:ambiguous] synonym: "arteriosclerotic cardiovascular disease" EXACT [DOID:2348, MONDO:0002276, NCIT:C34403] synonym: "arteriosclerotic vascular disease" EXACT [] synonym: "cardiovascular arteriosclerosis" EXACT [DOID:2348] synonym: "vascular sclerosis" EXACT [NCIT:C34398] xref: CSP:0571-2299 {source="DOID:2349"} xref: DOID:2348 {source="MONDO:equivalentTo"} xref: DOID:2349 {source="MONDO:equivalentTo"} xref: EFO:0009086 {source="MONDO:equivalentTo"} xref: HP:0002634 {source="MONDO:otherHierarchy"} xref: ICD9:440 {source="DOID:2348"} xref: MESH:D001161 {source="MONDO:equivalentTo", source="DOID:2349"} xref: NCIT:C34398 {source="MONDO:equivalentTo", source="DOID:2349"} xref: NCIT:C34403 {source="MONDO:equivalentTo", source="DOID:2348"} xref: SCTID:72092001 {source="MONDO:equivalentTo", source="DOID:2349"} xref: UMLS:C0003850 {source="MONDO:equivalentTo", source="NCIT:C34398", source="DOID:2349"} xref: UMLS:C3665365 {source="MONDO:equivalentTo", source="DOID:2348", source="NCIT:C34403"} is_a: MONDO:0000473 {source="DOID:2348/inferred", source="DOID:2349", source="NCIT:C34398"} ! arterial disorder property_value: exactMatch DOID:2348 property_value: exactMatch DOID:2349 property_value: exactMatch http://identifiers.org/mesh/D001161 property_value: exactMatch http://identifiers.org/snomedct/72092001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003850 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3665365 property_value: exactMatch NCIT:C34398 property_value: exactMatch NCIT:C34403 [Term] id: MONDO:0002278 name: benign colon neoplasm alt_id: MONDO:0021466 def: "A non-metastasizing neoplasm arising from the wall of the colon." [NCIT:C2894] synonym: "benign colon neoplasm" EXACT [NCIT:C2894] synonym: "benign colon tumor" EXACT [NCIT:C2894] synonym: "benign colon tumour" EXACT OMO:0003005 [] synonym: "benign colonic neoplasm" EXACT [NCIT:C2894] synonym: "benign colonic tumor" EXACT [NCIT:C2894] synonym: "benign colonic tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of colon" EXACT [NCIT:C2894] synonym: "benign neoplasm of the colon" EXACT [NCIT:C2894] synonym: "benign tumor of colon" EXACT [NCIT:C2894] synonym: "benign tumor of the colon" EXACT [NCIT:C2894] synonym: "benign tumour of colon" EXACT OMO:0003005 [] synonym: "benign tumour of the colon" EXACT OMO:0003005 [] synonym: "colon benign neoplasm" EXACT [MONDO:patterns/location] synonym: "colon neoplasm" BROAD [DOID:235] synonym: "colonic benign neoplasm" RELATED [DOID:235] synonym: "colonic Mass" EXACT [DOID:235, NCIT:C37904] synonym: "colonic tumor" BROAD [DOID:235, NCIT:C2953] synonym: "colonic tumour" BROAD OMO:0003005 [] xref: DOID:235 {source="MONDO:equivalentTo"} xref: ICD9:211.3 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C2894 {source="MONDO:equivalentTo"} xref: SCTID:92065004 {source="MONDO:equivalentTo"} xref: UMLS:C0004991 {source="MONDO:equivalentTo", source="NCIT:C2894"} is_a: EFO:0004288 {source="MONDO:Redundant", source="NCIT:C2894"} ! colonic neoplasm is_a: MONDO:0021444 {source="MONDO:Redundant", source="NCIT:C2894"} ! benign neoplasm of large intestine property_value: exactMatch DOID:235 property_value: exactMatch http://identifiers.org/snomedct/92065004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004991 property_value: exactMatch NCIT:C2894 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002279 name: iron metabolism disease def: "Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization." [MESH:D019189] synonym: "disorder of iron metabolism" EXACT [DOID:2351, ICD9CM:275.0] synonym: "disorder, iron metabolism" RELATED [MESH:D019189] synonym: "disorders, iron metabolism" RELATED [MESH:D019189] synonym: "iron disorder" EXACT [DOID:2351] synonym: "iron metabolism disorder" RELATED [MESH:D019189] synonym: "metabolism disorder, iron" RELATED [MESH:D019189] synonym: "metabolism disorders, iron" RELATED [MESH:D019189] xref: DOID:2351 {source="MONDO:equivalentTo"} xref: ICD10CM:E83.1 {source="DOID:2351", source="MONDO:equivalentTo"} xref: ICD9:275.0 {source="DOID:2351", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D019189 {source="DOID:2351", source="MONDO:equivalentTo"} xref: SCTID:30913008 {source="DOID:2351", source="MONDO:equivalentTo"} xref: UMLS:C0012715 {source="DOID:2351", source="MONDO:equivalentTo"} is_a: EFO:0009556 {source="DOID:2351", source="ICD10CM:E83.1"} ! mineral metabolism disease property_value: exactMatch DOID:2351 property_value: exactMatch http://identifiers.org/mesh/D019189 property_value: exactMatch http://identifiers.org/snomedct/30913008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0012715 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E83.1 [Term] id: MONDO:0002280 name: anemia def: "A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability." [NCIT:C2869] synonym: "anaemia (disease)" EXACT OMO:0003005 [] synonym: "anemia" EXACT [DOID:2355, MONDO:ambiguous, NCIT:C2869] synonym: "anemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:2355 {source="MONDO:equivalentTo"} xref: EFO:0004272 {source="DOID:2355", source="MONDO:equivalentTo"} xref: HP:0001903 {source="MONDO:otherHierarchy"} xref: ICD9:285.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:285.9 {source="DOID:2355", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D000740 {source="DOID:2355", source="MONDO:equivalentTo"} xref: NCIT:C2869 {source="DOID:2355", source="MONDO:equivalentTo"} xref: SCTID:271737000 {source="DOID:2355", source="MONDO:equivalentTo"} is_a: EFO:0005803 {source="DOID:2355", source="MESH:D000740", source="NCIT:C2869/inferred"} ! hematologic disease property_value: exactMatch DOID:2355 property_value: exactMatch http://identifiers.org/mesh/D000740 property_value: exactMatch http://identifiers.org/snomedct/271737000 property_value: exactMatch NCIT:C2869 property_value: IAO:0000589 "anemia (disease)" xsd:string [Term] id: MONDO:0002281 name: macrocytic anemia def: "Anemia that is characterized by increased red blood cell volume." [NCIT:P378] synonym: "anaemia macrocytic" EXACT OMO:0003005 [] synonym: "anemia macrocytic" EXACT [DOID:2361, MTH:NOCODE] synonym: "D22S676" EXACT ABBREVIATION [Orphanet:119999] synonym: "D22S750" EXACT ABBREVIATION [Orphanet:119999] synonym: "macrocytic Anaemia" EXACT OMO:0003005 [] synonym: "macrocytic anaemia (disease)" EXACT OMO:0003005 [] synonym: "macrocytic anaemia of unspecified cause" EXACT OMO:0003005 [] synonym: "macrocytic Anemia" EXACT [DOID:2361, NCIT:C34381] synonym: "macrocytic anemia" EXACT [DOID:2361, MONDO:ambiguous] synonym: "macrocytic anemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "macrocytic anemia of unspecified cause" EXACT [DOID:2361] xref: DOID:2361 {source="MONDO:equivalentTo"} xref: HP:0001972 {source="MONDO:otherHierarchy"} xref: MESH:D000748 {source="MONDO:equivalentTo", source="DOID:2361"} xref: NCIT:C34381 {source="MONDO:equivalentTo", source="DOID:2361"} xref: SCTID:83414005 {source="MONDO:equivalentTo", source="DOID:2361"} xref: UMLS:C0002886 {source="NCIT:C34381", source="MONDO:equivalentTo", source="DOID:2361"} is_a: MONDO:0002280 {source="DOID:2361", source="MESH:D000748", source="NCIT:C34381"} ! anemia property_value: exactMatch DOID:2361 property_value: exactMatch http://identifiers.org/mesh/D000748 property_value: exactMatch http://identifiers.org/snomedct/83414005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002886 property_value: exactMatch NCIT:C34381 property_value: IAO:0000589 "macrocytic anemia (disease)" xsd:string [Term] id: MONDO:0002282 name: West Nile fever def: "A mosquito-borne viral illness caused by the west nile virus, a flavivirus and endemic to regions of Africa, Asia, and Europe. Common clinical features include headache; fever; maculopapular rash; gastrointestinal symptoms; and lymphadenopathy. meningitis; encephalitis; and myelitis may also occur. The disease may occasionally be fatal or leave survivors with residual neurologic deficits. (From Joynt, Clinical Neurology, 1996, Ch26, p13; Lancet 1998 Sep 5;352(9130):767-71)" [MESH:D014901] synonym: "West Nile virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "West Nile virus disease or disorder" EXACT [] synonym: "West Nile virus infectious disease" EXACT [] xref: DOID:2366 {source="MONDO:equivalentTo"} xref: ICD9:066.4 {source="DOID:2366"} xref: ICD9:066.40 {source="DOID:2366"} xref: MESH:D014901 {source="DOID:2366", source="MONDO:equivalentTo"} xref: SCTID:417093003 {source="DOID:2366", source="MONDO:equivalentTo"} is_a: EFO:0007274 ! Flaviviridae infectious disease is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease property_value: exactMatch DOID:2366 property_value: exactMatch http://identifiers.org/mesh/D014901 property_value: exactMatch http://identifiers.org/snomedct/417093003 [Term] id: MONDO:0002283 name: neuroaxonal dystrophy def: "A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)" [MESH:D019150] xref: DOID:2367 {source="MONDO:equivalentTo"} xref: MESH:D019150 {source="DOID:2367", source="MONDO:equivalentTo"} xref: NCIT:C161542 {source="MONDO:equivalentTo"} xref: SCTID:230365004 {source="DOID:2367", source="MONDO:equivalentTo"} xref: UMLS:C0338473 {source="DOID:2367", source="MONDO:equivalentTo"} is_a: EFO:0005772 {source="DOID:2367"} ! neurodegenerative disease property_value: exactMatch DOID:2367 property_value: exactMatch http://identifiers.org/mesh/D019150 property_value: exactMatch http://identifiers.org/snomedct/230365004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0338473 property_value: exactMatch NCIT:C161542 [Term] id: MONDO:0002286 name: renal artery disease def: "A disease involving the renal artery." [https://orcid.org/0000-0002-6601-2165] synonym: "renal vascular disease" EXACT [DOID:2388] synonym: "vascular disorder of kidney" EXACT [DOID:2388, ICD9CM:593.81] xref: DOID:2388 {source="MONDO:equivalentTo"} xref: ICD9:593.81 {source="DOID:2388", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C101254 {source="MONDO:equivalentTo"} xref: SCTID:16934004 {source="DOID:2388", source="MONDO:equivalentTo"} xref: UMLS:C0268790 {source="DOID:2388", source="MONDO:equivalentTo"} xref: UMLS:C3640053 {source="MONDO:equivalentTo", source="NCIT:C101254"} is_a: EFO:0003086 {source="DOID:2388", source="MONDO:Redundant"} ! kidney disease is_a: EFO:0005775 ! aortic disease property_value: exactMatch DOID:2388 property_value: exactMatch http://identifiers.org/snomedct/16934004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268790 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3640053 property_value: exactMatch NCIT:C101254 [Term] id: MONDO:0002289 name: iris disorder def: "A disease involving the iris." [https://orcid.org/0000-0002-6601-2165] synonym: "disease of iris" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of iris" EXACT [] synonym: "disorder of iris" EXACT [MONDO:patterns/location_top] synonym: "iris disease" EXACT [MONDO:patterns/location] synonym: "iris disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "iris disorder" EXACT [NCIT:C34737] xref: DOID:240 {source="MONDO:equivalentTo"} xref: MESH:D007499 {source="MONDO:equivalentTo", source="DOID:240"} xref: NCIT:C34737 {source="MONDO:equivalentTo", source="DOID:240"} xref: SCTID:85478004 {source="MONDO:equivalentTo", source="DOID:240"} xref: UMLS:C0022078 {source="MONDO:equivalentTo", source="DOID:240"} is_a: MONDO:0002661 {source="DOID:240", source="MESH:D007499", source="MONDO:Redundant", source="NCIT:C34737"} ! uveal disorder property_value: exactMatch DOID:240 property_value: exactMatch http://identifiers.org/mesh/D007499 property_value: exactMatch http://identifiers.org/snomedct/85478004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022078 property_value: exactMatch NCIT:C34737 [Term] id: MONDO:0002297 name: epidermal appendage tumor def: "A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands." [NCIT:P378] synonym: "adnexal neoplasm of skin" EXACT [NCIT:C4463] synonym: "adnexal neoplasm of the skin" EXACT [NCIT:C4463] synonym: "adnexal tumor of skin" EXACT [NCIT:C4463] synonym: "adnexal tumor of the skin" EXACT [NCIT:C4463] synonym: "adnexal tumour of skin" EXACT OMO:0003005 [] synonym: "adnexal tumour of the skin" EXACT OMO:0003005 [] synonym: "cutaneous adnexal neoplasm" EXACT [NCIT:C4463] synonym: "cutaneous appendage neoplasm" EXACT [] synonym: "cutaneous appendage neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "cutaneous appendage tumor" EXACT [MONDO:patterns/neoplasm] synonym: "cutaneous appendage tumour" EXACT OMO:0003005 [] synonym: "Epidermal appendage neoplasm" EXACT [NCIT:C4463] synonym: "Epidermal appendage tumor" EXACT [NCIT:C4463] synonym: "Epidermal appendage tumour" EXACT OMO:0003005 [] synonym: "neoplasm of cutaneous appendage" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of Epidermal appendage" EXACT [NCIT:C4463] synonym: "neoplasm of skin appendage" EXACT [NCIT:C4463] synonym: "neoplasm of skin with adnexal differentiation" EXACT [DOID:2433] synonym: "neoplasm of the skin appendage" EXACT [DOID:2433, NCIT:C4463] synonym: "skin appendage neoplasm" EXACT [NCIT:C4463] synonym: "skin appendage tumor" EXACT [DOID:2433, NCIT:C4463] synonym: "skin appendage tumour" EXACT OMO:0003005 [] synonym: "tumor of cutaneous appendage" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of Epidermal appendage" EXACT [NCIT:C4463] synonym: "tumor of skin appendage" EXACT [NCIT:C4463] synonym: "tumor of the skin appendage" EXACT [NCIT:C4463] synonym: "tumour of cutaneous appendage" EXACT OMO:0003005 [] synonym: "tumour of Epidermal appendage" EXACT OMO:0003005 [] synonym: "tumour of skin appendage" EXACT OMO:0003005 [] synonym: "tumour of the skin appendage" EXACT OMO:0003005 [] xref: DOID:2433 {source="MONDO:equivalentTo"} xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4463 {source="DOID:2433", source="MONDO:equivalentTo"} xref: SCTID:126489007 {source="DOID:2433", source="MONDO:equivalentTo"} xref: UMLS:C0345988 {source="DOID:2433", source="NCIT:C4463", source="MONDO:equivalentTo"} is_a: EFO:0004198 {source="DOID:2433", source="NCIT:C4463"} ! skin neoplasm is_a: MONDO:0024481 ! skin appendage disorder property_value: exactMatch DOID:2433 property_value: exactMatch http://identifiers.org/snomedct/126489007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345988 property_value: exactMatch NCIT:C4463 [Term] id: MONDO:0002300 name: dermis tumor def: "A benign, intermediate, or malignant neoplasm that arises from the dermis." [NCIT:P378] synonym: "dermal neoplasm" EXACT [NCIT:C4475] synonym: "dermal tumor" EXACT [NCIT:C4475] synonym: "dermal tumour" EXACT OMO:0003005 [] synonym: "dermis neoplasm" EXACT [] synonym: "dermis neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "dermis tumor" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of dermis" EXACT [DOID:2438, MONDO:patterns/neoplasm, NCIT:C4475] synonym: "neoplasm of the dermis" EXACT [NCIT:C4475] synonym: "tumor of dermis" EXACT [DOID:2438, MONDO:patterns/neoplasm, NCIT:C4475] synonym: "tumor of the dermis" EXACT [NCIT:C4475] synonym: "tumour of dermis" EXACT OMO:0003005 [] synonym: "tumour of the dermis" EXACT OMO:0003005 [] xref: DOID:2438 {source="MONDO:equivalentTo"} xref: NCIT:C4475 {source="MONDO:equivalentTo", source="DOID:2438"} xref: UMLS:C0346041 {source="MONDO:equivalentTo", source="NCIT:C4475", source="DOID:2438"} is_a: EFO:0004198 {source="DOID:2438", source="NCIT:C4475"} ! skin neoplasm is_a: MONDO:0021154 ! dermis disorder property_value: exactMatch DOID:2438 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346041 property_value: exactMatch NCIT:C4475 [Term] id: MONDO:0002304 name: protein S deficiency def: "Protein S deficiency is a disorder that causes abnormal blood clotting. When someone bleeds, the blood begins a complicated series of rapid chemical reactions involving proteins called blood coagulation factors to stop the bleeding. Other proteins in the blood, such as protein S, usually regulate these chemical reactions to prevent excessive clotting. When protein S is missing (deficient), clotting may not be regulatednormally and affected individuals havean increased risk of forming a blood clot called a thrombosis. People at risk to haveprotein S deficiencyare those with an individual or family history of multiple blood clots in the veins. Treatment may include taking medication known as blood thinners to decrease the chance of developing a blood clot." [https://rarediseases.info.nih.gov/diseases/4524/protein-s-deficiency] comment: Editor note: TODO axiomatize subset: gard_rare {source="GARD:0004524"} synonym: "Protein S deficiency" EXACT [DOID:2451] synonym: "Protein S deficiency disease" EXACT [NCIT:C99026] xref: DOID:2451 {source="MONDO:equivalentTo"} xref: HGNC:9456 {source="GARD:0004524"} xref: ICD9:289.81 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D018455 {source="DOID:2451", source="MONDO:equivalentTo"} xref: NCIT:C99026 {source="DOID:2451", source="MONDO:equivalentTo"} xref: SCTID:1563006 {source="DOID:2451", source="MONDO:equivalentTo"} xref: UMLS:C0242666 {source="DOID:2451", source="MONDO:equivalentTo", source="NCIT:C99026"} is_a: EFO:0009315 {source="DOID:2451", source="MESH:D018455", source="NCIT:C99026"} ! thrombophilia property_value: exactMatch DOID:2451 property_value: exactMatch http://identifiers.org/mesh/D018455 property_value: exactMatch http://identifiers.org/snomedct/1563006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242666 property_value: exactMatch NCIT:C99026 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4524/protein-s-deficiency xsd:anyURI {source="GARD:0004524"} [Term] id: MONDO:0002311 name: retinal vascular disorder def: "Retinal damage resulting from diminished blood flow/oxygenation due to abnormalities of the retinal vessels. Causes include hypertension, diabetes, thrombosis, embolism, and hemorrhage." [NCIT:C35170] synonym: "retina circulation disorder" EXACT [DOID:2462] synonym: "retinal vascular disorder" EXACT [NCIT:C35170] xref: DOID:2462 {source="MONDO:equivalentTo"} xref: ICD9:362.13 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C35170 {source="DOID:2462", source="MONDO:equivalentTo"} xref: SCTID:57534004 {source="DOID:2462", source="MONDO:equivalentTo"} xref: UMLS:C0154833 {source="DOID:2462", source="MONDO:equivalentTo", source="NCIT:C35170"} is_a: EFO:0003839 {source="DOID:2462", source="MONDO:Redundant"} ! retinopathy is_a: EFO:0005753 ! ocular vascular disease is_a: MONDO:0043218 ! neurovascular disorder property_value: exactMatch DOID:2462 property_value: exactMatch http://identifiers.org/snomedct/57534004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154833 property_value: exactMatch NCIT:C35170 [Term] id: MONDO:0002312 name: opportunistic mycosis def: "A mycosis that arises from infection in an immunologically compromised host." [https://www.ncbi.nlm.nih.gov/books/NBK7902] synonym: "opportunistic mycoses" EXACT [DOID:2473] synonym: "opportunistic systemic mycoses" NARROW [DOID:2473] xref: DOID:2473 {source="MONDO:equivalentTo"} xref: ICD9:117.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:118 {source="DOID:2473", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:78999002 {source="DOID:2473", source="MONDO:equivalentTo"} xref: UMLS:C0029119 {source="DOID:2473", source="MONDO:equivalentTo"} is_a: MONDO:0002041 {source="DOID:2473/inferred", source="MONDO:Redundant", source="https://www.ncbi.nlm.nih.gov/books/NBK7902"} ! fungal infectious disease intersection_of: MONDO:0002041 ! fungal infectious disease intersection_of: has_characteristic MONDO:0045035 ! opportunistic infectious relationship: has_characteristic MONDO:0045035 ! opportunistic infectious property_value: exactMatch DOID:2473 property_value: exactMatch http://identifiers.org/snomedct/78999002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029119 property_value: excluded_subClassOf MONDO:0000256 {source="DOID:2473"} [Term] id: MONDO:0002314 name: chronic conjunctivitis def: "Conjunctivitis that is persistent and long-standing." [NCIT:P378] synonym: "chronic conjunctivitis" EXACT [DOID:2475, NCIT:C35197] synonym: "chronic conjunctivitis (disease)" EXACT [] synonym: "chronic conjunctivitis, unspecified" EXACT [DOID:2475, ICD9CM:372.10] synonym: "conjunctivitis (disease), chronic" EXACT [MONDO:patterns/chronic] xref: DOID:2475 {source="MONDO:equivalentTo"} xref: ICD10CM:H10.4 {source="DOID:2475", source="MONDO:equivalentTo"} xref: ICD9:372.1 {source="DOID:2475"} xref: ICD9:372.10 {source="DOID:2475", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C35197 {source="DOID:2475", source="MONDO:equivalentTo"} xref: SCTID:73762008 {source="DOID:2475", source="MONDO:equivalentTo"} xref: UMLS:C0155145 {source="DOID:2475", source="NCIT:C35197", source="MONDO:equivalentTo"} is_a: EFO:0009450 {source="DOID:2475", source="MONDO:Redundant", source="NCIT:C35197"} ! conjunctivitis property_value: exactMatch DOID:2475 property_value: exactMatch http://identifiers.org/snomedct/73762008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155145 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H10.4 property_value: exactMatch NCIT:C35197 [Term] id: MONDO:0002316 name: motor peripheral neuropathy def: "Inflammation or degeneration of the peripheral motor nerves." [NCIT:C3500] synonym: "hereditary motor and sensory neuropathy" NARROW [DOID:2477] synonym: "HSMN" NARROW ABBREVIATION [DOID:2477] synonym: "HSMN - hereditary sensory and motor neuropathy" NARROW [DOID:2477] synonym: "neuropathic muscular atrophy" RELATED [DOID:2477] synonym: "peripheral motor neuropathy" EXACT [NCIT:C3500] xref: DOID:2477 {source="MONDO:equivalentTo"} xref: ICD9:356.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D015417 {source="MONDO:relatedTo", source="DOID:2477"} xref: NCIT:C3500 {source="MONDO:equivalentTo"} xref: NCIT:C75467 {source="DOID:2477", source="MONDO:directSiblingOf"} xref: SCTID:95663000 {source="MONDO:equivalentTo"} xref: UMLS:C0235025 {source="MONDO:relatedTo", source="NCIT:C3500"} is_a: EFO:0003100 {source="DOID:2477", source="NCIT:C3500", source="NCIT:C3500/inferred"} ! peripheral neuropathy property_value: exactMatch DOID:2477 property_value: exactMatch http://identifiers.org/snomedct/95663000 property_value: exactMatch NCIT:C3500 [Term] id: MONDO:0002317 name: central nervous system origin vertigo def: "An illusion of movement, either of the external world revolving around the individual or of the individual revolving in space. Vertigo may be associated with disorders of the inner ear (ear, inner); vestibular nerve; brainstem; or cerebral cortex. Lesions in the temporal lobe and parietal lobe may be associated with focal seizures that may feature vertigo as an ictal manifestation. (From Adams et al., Principles of Neurology, 6th ed, pp300-1)" [MESH:D014717] synonym: "central vestibular vertigo" EXACT [DOID:2479] synonym: "vertigo of central origin" EXACT [DOID:2479, ICD9CM:386.2] xref: DOID:2479 {source="MONDO:equivalentTo"} xref: ICD9:386.2 {source="DOID:2479", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:38403006 {source="DOID:2479", source="MONDO:equivalentTo"} xref: UMLS:C0155503 {source="DOID:2479", source="MONDO:equivalentTo"} is_a: EFO:0005774 {source="DOID:2479"} ! brain disease property_value: exactMatch DOID:2479 property_value: exactMatch http://identifiers.org/snomedct/38403006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155503 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002319 name: phosphorus metabolism disease def: "A metabolic disorder that affects the phosphate homeostasis." [NCIT:C97095] synonym: "disorder of phosphorus metabolism" EXACT [DOID:2485, ICD9CM:275.3] synonym: "phosphorus disorder" EXACT [DOID:2485] synonym: "phosphorus metabolic disorder" EXACT [NCIT:C97095] synonym: "phosphorus metabolism disorder" EXACT [DOID:2485] xref: DOID:2485 {source="MONDO:equivalentTo"} xref: ICD10CM:E83.3 {source="MONDO:equivalentTo"} xref: ICD9:275.3 {source="DOID:2485", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D010760 {source="DOID:2485", source="MONDO:equivalentTo"} xref: NCIT:C97095 {source="DOID:2485", source="MONDO:equivalentTo"} xref: SCTID:87049008 {source="DOID:2485", source="MONDO:equivalentTo"} xref: UMLS:C0031707 {source="DOID:2485", source="NCIT:C97095", source="MONDO:equivalentTo"} is_a: EFO:0009556 {source="DOID:2485", source="ICD10CM:E83.3", source="MONDO:Redundant"} ! mineral metabolism disease property_value: exactMatch DOID:2485 property_value: exactMatch http://identifiers.org/mesh/D010760 property_value: exactMatch http://identifiers.org/snomedct/87049008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031707 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E83.3 property_value: exactMatch NCIT:C97095 [Term] id: MONDO:0002320 name: congenital nervous system disorder def: "An abnormality of the nervous system that is present at birth or detected in the neonatal period." [NCIT:C97172] synonym: "congenital abnormality of the nervous system" EXACT [NCIT:C97172] synonym: "congenital nervous system disorder" EXACT [NCIT:C97172] synonym: "congenital neurologic anomaly" EXACT [DOID:2490] xref: DOID:2490 {source="MONDO:equivalentTo"} xref: ICD9:742 {source="DOID:2490"} xref: NCIT:C97172 {source="MONDO:equivalentTo"} is_a: EFO:0000618 ! nervous system disease relationship: has_characteristic MONDO:0021140 ! congenital property_value: exactMatch DOID:2490 property_value: exactMatch NCIT:C97172 property_value: excluded_subClassOf MONDO:0000839 {source="DOID:2490"} [Term] id: MONDO:0002321 name: sensory peripheral neuropathy def: "Inflammation or degeneration of the sensory nerves." [NCIT:C3501] synonym: "peripheral neuropathy of sensory nerve" EXACT [MONDO:design_pattern] synonym: "peripheral sensory neuropathy" EXACT [DOID:2491, NCIT:C3501] synonym: "sensory nerve peripheral neuropathy" EXACT [MONDO:patterns/location] synonym: "sensory neuropathy" EXACT [DOID:2491] xref: DOID:2491 {source="MONDO:equivalentTo"} xref: ICD9:356.2 {source="DOID:2491"} xref: ICD9:356.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C3501 {source="MONDO:equivalentTo", source="DOID:2491"} xref: SCTID:95662005 {source="MONDO:equivalentTo", source="DOID:2491"} xref: UMLS:C0151313 {source="MONDO:equivalentTo", source="NCIT:C3501", source="DOID:2491"} is_a: EFO:0003100 {source="DOID:2491", source="MONDO:Redundant", source="NCIT:C3501", source="NCIT:C3501/inferred"} ! peripheral neuropathy property_value: exactMatch DOID:2491 property_value: exactMatch http://identifiers.org/snomedct/95662005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151313 property_value: exactMatch NCIT:C3501 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002326 name: alcohol-induced mental disorder xref: DOID:251 {source="MONDO:equivalentTo"} xref: ICD9:291.8 {source="DOID:251"} xref: ICD9:291.89 {source="DOID:251"} is_a: EFO:0000677 ! mental or behavioural disorder property_value: exactMatch DOID:251 property_value: excluded_subClassOf MONDO:0004630 {source="DOID:251"} [Term] id: MONDO:0002328 name: intracranial hemangioma def: "A hemangioma arising from the brain and meninges." [NCIT:C3633] synonym: "angioma of intracranial structure" EXACT [DOID:2517, NCIT:C3633] synonym: "angioma of the intracranial structure" EXACT [NCIT:C3633] synonym: "brain hemangioma" BROAD [MONDO:patterns/location] synonym: "hemangioma of brain" EXACT [MONDO:design_pattern] synonym: "hemangioma of intracranial structure" EXACT [NCIT:C3633] synonym: "hemangioma of intracranial structures" EXACT [DOID:2517, ICD9CM:228.02] synonym: "hemangioma of the intracranial structure" EXACT [NCIT:C3633] synonym: "intracranial angioma" EXACT [NCIT:C3633] synonym: "intracranial hemangioma" EXACT [NCIT:C3633] synonym: "intracranial structure hemangioma" RELATED [DOID:2517] xref: DOID:2517 {source="MONDO:equivalentTo"} xref: ICD10CM:D18.02 {source="MONDO:equivalentTo", source="DOID:2517"} xref: ICD9:228.02 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2517"} xref: NCIT:C3633 {source="MONDO:equivalentTo", source="DOID:2517"} xref: SCTID:93468003 {source="MONDO:equivalentTo", source="DOID:2517"} xref: UMLS:C0154050 {source="MONDO:equivalentTo", source="NCIT:C3633", source="DOID:2517"} is_a: EFO:1000107 ! Benign Brain Neoplasm is_a: MONDO:0003241 ! central nervous system hemangioma property_value: exactMatch DOID:2517 property_value: exactMatch http://identifiers.org/snomedct/93468003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154050 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D18.02 property_value: exactMatch NCIT:C3633 [Term] id: MONDO:0002331 name: nephrosis def: "Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA." [MESH:D009401] synonym: "Nephroses" EXACT [MESH:D009401] xref: DOID:2527 {source="MONDO:equivalentTo"} xref: MESH:D009401 {source="MONDO:equivalentTo", source="DOID:2527"} xref: UMLS:C0027720 {source="MONDO:equivalentTo", source="DOID:2527"} is_a: EFO:0003086 {source="DOID:2527", source="MESH:D009401"} ! kidney disease property_value: exactMatch DOID:2527 property_value: exactMatch http://identifiers.org/mesh/D009401 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027720 [Term] id: MONDO:0002334 name: hematopoietic and lymphoid system neoplasm def: "Neoplasms of the hematopoietic system, including hematopoietic cell neoplasms (e.g. leukemias, lymphomas) and non-hematopoietic cell neoplasms that can affect the hematopoietic system (e.g. lymph node and splenic sarcomas). --2003" [NCIT:C35813] synonym: "blood cancer" NARROW [DOID:2531] synonym: "blood neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "blood tumor" EXACT [MONDO:patterns/neoplasm] synonym: "blood tumour" EXACT OMO:0003005 [] synonym: "haematological tumours" EXACT OMO:0003005 [] synonym: "haematopoietic and lymphoid system tumour" EXACT OMO:0003005 [] synonym: "haematopoietic cancer" NARROW OMO:0003005 [] synonym: "haematopoietic neoplasm" BROAD OMO:0003005 [] synonym: "haematopoietic neoplasm (morphologic abnormality)" BROAD OMO:0003005 [] synonym: "haematopoietic system neoplasm" EXACT OMO:0003005 [] synonym: "haematopoietic system tumour" EXACT OMO:0003005 [] synonym: "haematopoietic tumours" EXACT OMO:0003005 [] synonym: "hematologic cancer" RELATED [DOID:2531] synonym: "hematologic malignancy" NARROW [DOID:2531] synonym: "hematologic neoplasm" BROAD [DOID:2531] synonym: "hematological tumors" EXACT [DOID:2531, NCIT:C27134] synonym: "hematopoietic and lymphoid system neoplasm" EXACT [NCIT:C35813] synonym: "hematopoietic and lymphoid system tumor" EXACT [DOID:2531, NCIT:C35813] synonym: "hematopoietic cancer" NARROW [DOID:2531] synonym: "hematopoietic neoplasm" BROAD [DOID:2531] synonym: "hematopoietic neoplasm (morphologic abnormality)" BROAD [DOID:2531] synonym: "hematopoietic system neoplasm" EXACT [] synonym: "hematopoietic system tumor" EXACT [MONDO:patterns/neoplasm] synonym: "hematopoietic tumors" EXACT [DOID:2531, NCIT:C27134] synonym: "malignant haematopoietic neoplasm" RELATED OMO:0003005 [] synonym: "malignant haematopoietic neoplasm (morphologic abnormality)" NARROW OMO:0003005 [] synonym: "malignant hematopoietic neoplasm (morphologic abnormality)" NARROW [DOID:2531] synonym: "neoplasm of blood" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of haematopoietic system" EXACT OMO:0003005 [] synonym: "neoplasm of hematopoietic system" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of blood" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of hematopoietic system" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of blood" EXACT OMO:0003005 [] synonym: "tumour of haematopoietic system" EXACT OMO:0003005 [] xref: DOID:2531 {source="MONDO:equivalentTo"} xref: MESH:D019337 {source="DOID:2531", source="MONDO:equivalentTo"} xref: NCIT:C35813 {source="MONDO:equivalentTo"} xref: SCTID:129154003 {source="MONDO:equivalentTo"} xref: UMLS:C0376544 {source="DOID:2531", source="MONDO:equivalentTo"} xref: UMLS:C0376545 {source="MONDO:equivalentTo"} xref: UMLS:C1512393 {source="MONDO:equivalentTo", source="NCIT:C35813"} is_a: EFO:0000616 {source="DOID:2531/inferred", source="MESH:D019337/inferred", source="MONDO:Redundant", source="NCIT:C35813/inferred"} ! neoplasm is_a: EFO:0005803 {source="MESH:D019337", source="MONDO:Redundant"} ! hematologic disease property_value: exactMatch DOID:2531 property_value: exactMatch http://identifiers.org/mesh/D019337 property_value: exactMatch http://identifiers.org/snomedct/129154003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0376544 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0376545 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1512393 property_value: exactMatch NCIT:C35813 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002336 name: obsolete inflammatory and toxic neuropathy xref: DOID:2537 {source="MONDO:obsoleteEquivalent"} xref: ICD9:357 {source="DOID:2537"} xref: ICD9:357.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:357.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:357.9 {source="MONDO:obsoleteEquivalent", source="MONDO:i2s", source="DOID:2537"} xref: SCTID:267601009 {source="MONDO:obsoleteEquivalent", source="DOID:2537"} property_value: exactMatch DOID:2537 property_value: exactMatch http://identifiers.org/snomedct/267601009 property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4698 xsd:anyURI is_obsolete: true consider: MONDO:0005244 [Term] id: MONDO:0002337 name: intra-abdominal hemangioma def: "A hemangioma arising from organs within the abdominal cavity." [NCIT:C3635] synonym: "abdominal cavity hemangioma" EXACT [MONDO:patterns/location] synonym: "hemangioma of abdominal cavity" EXACT [MONDO:design_pattern] synonym: "hemangioma of intra-abdominal structure" EXACT [NCIT:C3635] synonym: "hemangioma of intra-abdominal structures" EXACT [DOID:254, ICD9CM:228.04] synonym: "hemangioma, intra-abdominal" EXACT [DOID:254, NCIT:C3635] synonym: "intra-abdominal hemangioma" EXACT [NCIT:C3635] xref: DOID:254 {source="MONDO:equivalentTo"} xref: ICD10CM:D18.03 {source="MONDO:equivalentTo", source="DOID:254"} xref: ICD9:228.04 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:254"} xref: NCIT:C3635 {source="MONDO:equivalentTo", source="DOID:254"} xref: SCTID:189197001 {source="MONDO:equivalentTo", source="DOID:254"} xref: UMLS:C0154052 {source="MONDO:equivalentTo", source="NCIT:C3635", source="DOID:254"} is_a: EFO:1000635 {source="DOID:254", source="MONDO:Redundant", source="NCIT:C3635"} ! hemangioma property_value: exactMatch DOID:254 property_value: exactMatch http://identifiers.org/snomedct/189197001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154052 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D18.03 property_value: exactMatch NCIT:C3635 [Term] id: MONDO:0002341 name: granulomatous angiitis def: "Inflammation of the arteries that is characterized by the presence of granulomas." [NCIT:P378] synonym: "Granulomatous arteritis" EXACT [NCIT:C34653] xref: DOID:2555 {source="MONDO:equivalentTo"} xref: MESH:D020293 {source="DOID:2555", source="MONDO:directSiblingOf"} xref: NCIT:C34653 {source="MONDO:equivalentTo", source="DOID:2555"} xref: UMLS:C0018202 {source="MONDO:equivalentTo", source="DOID:2555"} is_a: EFO:0009011 {source="NCIT:C34653"} ! Arteritis property_value: exactMatch DOID:2555 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018202 property_value: exactMatch NCIT:C34653 [Term] id: MONDO:0002342 name: chondromalacia def: "Pathological processes involving the chondral tissue (cartilage)." [MESH:D002357] xref: DOID:2557 {source="MONDO:equivalentTo"} xref: ICD10CM:M94.2 {source="MONDO:equivalentTo", source="DOID:2557"} xref: ICD9:733.92 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2557"} xref: SCTID:63198006 {source="MONDO:equivalentTo", source="DOID:2557"} xref: UMLS:C0085700 {source="MONDO:equivalentTo", source="DOID:2557"} is_a: MONDO:0003816 {source="DOID:2557"} ! articular cartilage disorder property_value: exactMatch DOID:2557 property_value: exactMatch http://identifiers.org/snomedct/63198006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085700 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/M94.2 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002345 name: cervicitis def: "An acute or chronic inflammatory process that affects the cervix. Causes include sexually transmitted diseases and bacterial infections. Clinical manifestations include abnormal vaginal bleeding and vaginal discharge." [NCIT:P378] synonym: "cervicitis" EXACT [MONDO:ambiguous] synonym: "cervicitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:2568 {source="MONDO:equivalentTo"} xref: HP:0030160 {source="MONDO:otherHierarchy"} xref: ICD9:616.0 {source="DOID:2568"} xref: MESH:D002575 {source="MONDO:equivalentTo", source="DOID:2568"} xref: NCIT:C26716 {source="MONDO:equivalentTo", source="DOID:2568"} xref: SCTID:37610005 {source="MONDO:equivalentTo", source="DOID:2568"} is_a: MONDO:0002256 {source="DOID:2568", source="MESH:D002575", source="NCIT:C26716/inferred"} ! cervix disorder property_value: exactMatch DOID:2568 property_value: exactMatch http://identifiers.org/mesh/D002575 property_value: exactMatch http://identifiers.org/snomedct/37610005 property_value: exactMatch NCIT:C26716 property_value: IAO:0000589 "cervicitis (disease)" xsd:string [Term] id: MONDO:0002350 name: familial nephrotic syndrome def: "An instance of nephrotic syndrome that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] synonym: "congenital nephrotic syndrome" EXACT [DOID:2590, NCIT:C35337] synonym: "hereditary nephrotic syndrome" EXACT [MONDO:patterns/hereditary] xref: DOID:2590 {source="MONDO:equivalentTo"} xref: NCIT:C35337 {source="MONDO:equivalentTo", source="DOID:2590"} xref: OMIMPS:256300 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: SCTID:48796009 {source="MONDO:equivalentTo", source="DOID:2590"} xref: UMLS:C3501848 {source="MONDO:equivalentTo", source="NCIT:C35337", source="DOID:2590"} xref: UMLS:CN043611 {source="MONDO:equivalentTo"} is_a: EFO:0004255 {source="DOID:2590", source="MONDO:Redundant", source="NCIT:C35337"} ! nephrotic syndrome is_a: MONDO:0100191 ! inherited kidney disorder intersection_of: EFO:0004255 ! nephrotic syndrome intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch DOID:2590 property_value: exactMatch http://identifiers.org/snomedct/48796009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3501848 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN043611 property_value: exactMatch https://omim.org/phenotypicSeries/PS256300 property_value: exactMatch NCIT:C35337 [Term] id: MONDO:0002351 name: glottis cancer def: "A malignant neoplasm that affects the glottic area of the larynx. The vast majority of cases represent squamous cell carcinomas." [NCIT:C3544] synonym: "Ca larynx - glottis" EXACT [DOID:2595] synonym: "cancer of glottis" EXACT [MONDO:patterns/cancer] synonym: "glottis cancer" EXACT [MONDO:patterns/location] synonym: "malignant glottis neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3544] synonym: "malignant glottis tumor" EXACT [NCIT:C3544] synonym: "malignant glottis tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of glottis" EXACT [MONDO:patterns/cancer, NCIT:C3544] synonym: "malignant neoplasm of the glottis" EXACT [NCIT:C3544] synonym: "malignant tumor of glottis" EXACT [NCIT:C3544] synonym: "malignant tumor of the glottis" EXACT [DOID:2595, NCIT:C3544] synonym: "malignant tumour of glottis" EXACT OMO:0003005 [] synonym: "malignant tumour of the glottis" EXACT OMO:0003005 [] xref: DOID:2595 {source="MONDO:equivalentTo"} xref: ICD9:161.0 {source="DOID:2595", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3544 {source="DOID:2595", source="MONDO:equivalentTo"} xref: SCTID:187841006 {source="DOID:2595", source="MONDO:equivalentTo"} xref: UMLS:C0153483 {source="DOID:2595", source="MONDO:equivalentTo", source="NCIT:C3544"} is_a: EFO:1000354 {source="DOID:2595", source="MONDO:Redundant", source="NCIT:C3544"} ! Malignant Laryngeal Neoplasm is_a: MONDO:0002353 {source="MONDO:Redundant", source="NCIT:C3544"} ! glottis neoplasm property_value: exactMatch DOID:2595 property_value: exactMatch http://identifiers.org/snomedct/187841006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153483 property_value: exactMatch NCIT:C3544 [Term] id: MONDO:0002353 name: glottis neoplasm def: "A benign or malignant neoplasm that affects the glottic area of the larynx." [NCIT:C4425] synonym: "glottis neoplasm" EXACT [NCIT:C4425] synonym: "glottis neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "glottis tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4425] synonym: "glottis tumour" EXACT OMO:0003005 [] synonym: "neoplasm of glottis" EXACT [MONDO:patterns/neoplasm, NCIT:C4425] synonym: "neoplasm of the glottis" EXACT [NCIT:C4425] synonym: "tumor of glottis" EXACT [MONDO:patterns/neoplasm, NCIT:C4425] synonym: "tumor of the glottis" EXACT [DOID:2597, NCIT:C4425] synonym: "tumour of glottis" EXACT OMO:0003005 [] synonym: "tumour of the glottis" EXACT OMO:0003005 [] xref: DOID:2597 {source="MONDO:equivalentTo"} xref: NCIT:C4425 {source="DOID:2597", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:126693009 {source="DOID:2597", source="MONDO:equivalentTo"} xref: UMLS:C0345713 {source="DOID:2597", source="MONDO:equivalentTo", source="NCIT:C4425"} is_a: EFO:0003817 {source="MONDO:Redundant", source="NCIT:C4425"} ! laryngeal neoplasm property_value: exactMatch DOID:2597 property_value: exactMatch http://identifiers.org/snomedct/126693009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345713 property_value: exactMatch NCIT:C4425 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002354 name: benign laryngeal neoplasm def: "A non-metastasizing neoplasm that arises from the larynx. Representative examples include squamous papilloma and hemangioma." [NCIT:C3601] synonym: "benign laryngeal neoplasm" EXACT [NCIT:C3601] synonym: "benign laryngeal tumor" EXACT [NCIT:C3601] synonym: "benign laryngeal tumour" EXACT OMO:0003005 [] synonym: "benign larynx neoplasm" EXACT [NCIT:C3601] synonym: "benign larynx tumor" EXACT [NCIT:C3601] synonym: "benign larynx tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of larynx" EXACT [NCIT:C3601] synonym: "benign neoplasm of the larynx" EXACT [NCIT:C3601] synonym: "benign tumor of larynx" EXACT [NCIT:C3601] synonym: "benign tumor of the larynx" EXACT [NCIT:C3601] synonym: "benign tumour of larynx" EXACT OMO:0003005 [] synonym: "benign tumour of the larynx" EXACT OMO:0003005 [] synonym: "laryngeal benign neoplasm" RELATED [DOID:2598] synonym: "laryngeal neoplasm, benign" EXACT [NCIT:C3601] synonym: "laryngeal tumor" BROAD [DOID:2598, NCIT:C3156] synonym: "laryngeal tumour" BROAD OMO:0003005 [] synonym: "larynx benign neoplasm" EXACT [MONDO:patterns/location] synonym: "larynx neoplasm" BROAD [DOID:2598] xref: DOID:2598 {source="MONDO:equivalentTo"} xref: ICD9:212.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3601 {source="MONDO:equivalentTo"} xref: SCTID:92175003 {source="MONDO:equivalentTo"} xref: UMLS:C0153952 {source="MONDO:equivalentTo", source="NCIT:C3601"} is_a: EFO:0003817 {source="MONDO:Redundant", source="NCIT:C3601"} ! laryngeal neoplasm is_a: MONDO:0000382 {source="DOID:2598", source="MONDO:Redundant"} ! respiratory system benign neoplasm property_value: exactMatch DOID:2598 property_value: exactMatch http://identifiers.org/snomedct/92175003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153952 property_value: exactMatch NCIT:C3601 [Term] id: MONDO:0002355 name: glottis carcinoma def: "A carcinoma that arises from epithelial cells of the glottis." [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of glottis" BROAD [NCIT:C4923] synonym: "cancer of the glottis" BROAD [NCIT:C4923] synonym: "carcinoma of glottis" EXACT [MONDO:patterns/carcinoma, NCIT:C4923] synonym: "carcinoma of the glottis" EXACT [NCIT:C4923] synonym: "glottic carcinoma" EXACT [DOID:2599, NCIT:C4923] synonym: "glottic throat cancer" BROAD [NCIT:C4923] synonym: "glottis cancer" BROAD [NCIT:C4923] synonym: "glottis carcinoma" EXACT [MONDO:patterns/location, NCIT:C4923] xref: DOID:2599 {source="MONDO:equivalentTo"} xref: NCIT:C4923 {source="MONDO:equivalentTo", source="DOID:2599"} xref: SCTID:372103002 {source="MONDO:equivalentTo", source="DOID:2599"} xref: UMLS:C0740083 {source="MONDO:equivalentTo", source="DOID:2599", source="NCIT:C4923"} is_a: MONDO:0002351 {source="DOID:2599", source="MONDO:Redundant", source="NCIT:C4923"} ! glottis cancer is_a: MONDO:0002358 {source="MONDO:Redundant", source="NCIT:C4923"} ! laryngeal carcinoma property_value: exactMatch DOID:2599 property_value: exactMatch http://identifiers.org/snomedct/372103002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0740083 property_value: exactMatch NCIT:C4923 [Term] id: MONDO:0002358 name: laryngeal carcinoma def: "Carcinoma that arises from the laryngeal epithelium. More than 90% of laryngeal carcinomas are squamous cell carcinomas. The remainder are adenoid cystic carcinomas, mucoepidermoid carcinomas and carcinomas with neuroendocrine differentiation." [NCIT:C4855] synonym: "cancer of larynx" BROAD [DOID:2600, NCIT:C4855] synonym: "cancer of the larynx" BROAD [NCIT:C4855] synonym: "carcinoma of larynx" EXACT [MONDO:patterns/carcinoma, NCIT:C4855] synonym: "carcinoma of the larynx" EXACT [NCIT:C4855] synonym: "laryngeal cancer" BROAD [NCIT:C4855] synonym: "laryngeal carcinoma" EXACT [NCIT:C4855] synonym: "laryngeal throat cancer" BROAD [NCIT:C4855] synonym: "larynx carcinoma" EXACT [MONDO:patterns/location, NCIT:C4855] xref: DOID:2600 {source="MONDO:equivalentTo"} xref: NCIT:C4855 {source="DOID:2600", source="MONDO:equivalentTo"} xref: SCTID:276975007 {source="DOID:2600", source="MONDO:equivalentTo"} xref: UMLS:C0595989 {source="DOID:2600", source="MONDO:equivalentTo", source="NCIT:C4855"} is_a: EFO:0000313 {source="MONDO:Redundant", source="NCIT:C4855/inferred"} ! carcinoma is_a: EFO:1000354 {source="DOID:2600", source="MONDO:Redundant", source="NCIT:C4855"} ! Malignant Laryngeal Neoplasm property_value: exactMatch DOID:2600 property_value: exactMatch http://identifiers.org/snomedct/276975007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0595989 property_value: exactMatch NCIT:C4855 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002359 name: periosteal chondroma def: "A benign neoplasm of bone surface composed of hyaline cartilage. It arises beneath the periosteum and is characterized by the presence of chondrocytes, a lobulated growth pattern, and calcification." [NCIT:C4302] synonym: "juxtacortical chondroma" EXACT [NCIT:C4302] synonym: "juxtacortical chondroma (morphologic abnormality)" EXACT [DOID:2601] synonym: "periosteal chondroma" EXACT [DOID:2601, NCIT:C4302] xref: DOID:2601 {source="MONDO:equivalentTo"} xref: ICDO:9221/0 {source="NCIT:C4302"} xref: NCIT:C4302 {source="MONDO:equivalentTo", source="DOID:2601"} xref: UMLS:C0334548 {source="MONDO:equivalentTo", source="DOID:2601"} is_a: MONDO:0000631 {source="NCIT:C4302"} ! bone benign neoplasm is_a: MONDO:0002360 {source="DOID:2601", source="MONDO:Redundant", source="NCIT:C4302"} ! chondroma property_value: exactMatch DOID:2601 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334548 property_value: exactMatch NCIT:C4302 [Term] id: MONDO:0002360 name: chondroma def: "A benign well circumscribed neoplasm of hyaline cartilage arising from bone or soft tissue. It is characterized by the presence of chondrocytes." [NCIT:C53459] subset: gard_rare {source="GARD:0006052"} synonym: "central chondroma" EXACT [DOID:2602, NCIT:C3007] synonym: "chondroma" EXACT [NCIT:C53459] synonym: "chondroma, benign" EXACT [NCIT:C53459] xref: DOID:2602 {source="MONDO:equivalentTo"} xref: ICDO:9220/0 {source="NCIT:C53459"} xref: MESH:D002812 {source="MONDO:equivalentTo", source="DOID:2602"} xref: NCIT:C53459 {source="MONDO:equivalentTo", source="DOID:2602"} xref: UMLS:C0936248 {source="NCIT:C53459", source="MONDO:equivalentTo", source="DOID:2602"} is_a: EFO:0002461 ! skeletal system disease is_a: MONDO:0000636 ! musculoskeletal system benign neoplasm is_a: MONDO:0021581 ! connective tissue neoplasm is_a: MONDO:0024470 {source="NCIT:C53459"} ! benign chondrogenic neoplasm property_value: exactMatch DOID:2602 property_value: exactMatch http://identifiers.org/mesh/D002812 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0936248 property_value: exactMatch NCIT:C53459 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6052/chondroma xsd:anyURI {source="GARD:0006052"} [Term] id: MONDO:0002363 name: papilloma def: "A benign epithelial neoplasm that projects above the surrounding epithelial surface and consists of villous or arborescent outgrowths of fibrovascular stroma." [NCIT:C7440] synonym: "papilloma" EXACT [NCIT:C7440] synonym: "papilloma (except papilloma of bladder M-81201) (morphologic abnormality)" EXACT [DOID:2615] synonym: "papilloma, benign" EXACT [NCIT:C7440] synonym: "papillomatosis NOS (morphologic abnormality)" RELATED [DOID:2615] xref: DOID:2615 {source="MONDO:equivalentTo"} xref: ICDO:8050/0 {source="NCIT:C7440"} xref: MESH:D010212 {source="MONDO:equivalentTo", source="DOID:2615"} xref: NCIT:C3713 {source="DOID:2615", source="MONDO:directSiblingOf"} xref: NCIT:C7440 {source="MONDO:equivalentTo", source="DOID:2615"} xref: SCTID:711329002 {source="MONDO:equivalentTo", source="DOID:2615"} xref: UMLS:C0030354 {source="NCIT:C7440", source="MONDO:equivalentTo", source="DOID:2615"} is_a: MONDO:0021096 {source="NCIT:C7440"} ! papillary epithelial neoplasm is_a: MONDO:0036976 ! benign epithelial neoplasm property_value: exactMatch DOID:2615 property_value: exactMatch http://identifiers.org/mesh/D010212 property_value: exactMatch http://identifiers.org/snomedct/711329002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030354 property_value: exactMatch NCIT:C7440 [Term] id: MONDO:0002366 name: autonomic nervous system neoplasm def: "Benign and malignant neoplasms which arise from or directly involve the central or peripheral elements of the autonomic nervous system." [NCIT:C5112] synonym: "autonomic nervous system neoplasm" EXACT [NCIT:C5112] synonym: "autonomic nervous system neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "autonomic nervous system neoplasms" EXACT [NCIT:C5112] synonym: "autonomic nervous system tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5112] synonym: "autonomic nervous system tumour" EXACT OMO:0003005 [] synonym: "neoplasm of autonomic nervous system" EXACT [MONDO:patterns/neoplasm, NCIT:C5112] synonym: "neoplasm of the autonomic nervous system" EXACT [NCIT:C5112] synonym: "tumor of autonomic nervous system" EXACT [DOID:2621, MONDO:patterns/neoplasm, NCIT:C5112] synonym: "tumor of the autonomic nervous system" EXACT [NCIT:C5112] synonym: "tumour of autonomic nervous system" EXACT OMO:0003005 [] synonym: "tumour of the autonomic nervous system" EXACT OMO:0003005 [] xref: DOID:2621 {source="MONDO:equivalentTo"} xref: NCIT:C5112 {source="MONDO:equivalentTo", source="DOID:2621", source="MONDO:exact-label-match"} xref: UMLS:C1332356 {source="NCIT:C5112", source="MONDO:equivalentTo", source="DOID:2621"} is_a: EFO:0002431 {source="DOID:2621", source="MONDO:Redundant", source="NCIT:C5112"} ! tumour of cranial and spinal nerves is_a: EFO:0009532 ! autonomic nervous system disease is_a: EFO:1000158 ! Central Nervous System Neoplasm property_value: exactMatch DOID:2621 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332356 property_value: exactMatch NCIT:C5112 [Term] id: MONDO:0002367 name: kidney cancer def: "Primary or metastatic malignant neoplasm involving the kidney." [NCIT:C7548] synonym: "cancer of kidney" EXACT [MONDO:patterns/cancer] synonym: "kidney cancer" EXACT [MONDO:patterns/location] synonym: "malignant kidney neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7548] synonym: "malignant kidney tumor" EXACT [NCIT:C7548] synonym: "malignant kidney tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of kidney" EXACT [MONDO:patterns/cancer, NCIT:C7548] synonym: "malignant neoplasm of kidney except pelvis" EXACT [DOID:263] synonym: "malignant neoplasm of the kidney" EXACT [NCIT:C7548] synonym: "malignant renal neoplasm" EXACT [NCIT:C7548] synonym: "malignant renal tumor" EXACT [NCIT:C7548] synonym: "malignant renal tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of kidney" EXACT [DOID:263, NCIT:C7548] synonym: "malignant tumor of the kidney" EXACT [NCIT:C7548] synonym: "malignant tumour of kidney" EXACT OMO:0003005 [] synonym: "malignant tumour of the kidney" EXACT OMO:0003005 [] xref: DOID:263 {source="MONDO:equivalentTo"} xref: ICD9:189.0 {source="DOID:263"} xref: MESH:D007680 {source="MONDO:equivalentTo", source="DOID:263"} xref: NCIT:C7548 {source="MONDO:equivalentTo", source="DOID:263"} xref: SCTID:363518003 {source="MONDO:equivalentTo", source="DOID:263"} xref: UMLS:CN881103 {source="MONDO:equivalentTo"} is_a: EFO:0003865 {source="MONDO:Redundant", source="NCIT:C7548"} ! kidney neoplasm is_a: EFO:1000363 {source="DOID:263", source="MONDO:Redundant", source="NCIT:C7548"} ! Malignant Urinary System Neoplasm property_value: exactMatch DOID:263 property_value: exactMatch http://identifiers.org/mesh/D007680 property_value: exactMatch http://identifiers.org/snomedct/363518003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN881103 property_value: exactMatch NCIT:C7548 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002368 name: papillary serous cystadenocarcinoma def: "A malignant cystic serous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present." [NCIT:C8377] synonym: "micropapillary serous carcinoma" NARROW [DOID:2632, NCIT:C6882] synonym: "papillary serous adenocarcinoma" EXACT [NCIT:C8377] synonym: "papillary serous carcinoma" BROAD [DOID:2632, NCIT:C8377] synonym: "papillary serous cystadenocarcinoma" EXACT [NCIT:C8377] synonym: "serous surface papillary carcinoma (morphologic abnormality)" EXACT [DOID:2632] xref: DOID:2632 {source="MONDO:equivalentTo"} xref: ICDO:8460/3 {source="NCIT:C8377"} xref: NCIT:C8377 {source="MONDO:equivalentTo", source="DOID:2632"} xref: SCTID:716649003 {source="MONDO:equivalentTo"} xref: UMLS:C0334359 {source="NCIT:C8377", source="MONDO:equivalentObsolete", source="DOID:2632"} is_a: EFO:0000639 {source="MONDO:Redundant", source="NCIT:C8377"} ! papillary cystadenocarcinoma is_a: MONDO:0024621 {source="MONDO:Redundant", source="NCIT:C8377"} ! serous cystadenocarcinoma intersection_of: EFO:0000639 {source="NCIT:C8377"} ! papillary cystadenocarcinoma intersection_of: MONDO:0024621 {source="NCIT:C8377"} ! serous cystadenocarcinoma property_value: exactMatch DOID:2632 property_value: exactMatch http://identifiers.org/snomedct/716649003 property_value: exactMatch NCIT:C8377 [Term] id: MONDO:0002369 name: cystadenoma def: "A benign or borderline cystic epithelial neoplasm arising from the glandular epithelium. The epithelial cells line the cystic spaces which contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenomas." [NCIT:C2972] synonym: "cystadenoma" EXACT [NCIT:C2972] synonym: "cystadenoma (morphologic abnormality)" EXACT [DOID:2634] synonym: "cystadenoma, benign" EXACT [NCIT:C2972] synonym: "cystoma" EXACT [DOID:2634, NCIT:C2972] xref: DOID:2634 {source="MONDO:equivalentTo"} xref: ICDO:8440/0 {source="NCIT:C2972"} xref: MESH:D003537 {source="MONDO:equivalentTo", source="DOID:2634"} xref: NCIT:C2972 {source="MONDO:equivalentTo", source="DOID:2634", source="MONDO:exact-label-match"} xref: UMLS:C0010633 {source="MONDO:equivalentTo", source="DOID:2634", source="NCIT:C2972"} is_a: EFO:0000232 {source="DOID:2634", source="MESH:D003537"} ! adenoma is_a: MONDO:0021077 {source="NCIT:C2972"} ! cystic neoplasm is_a: MONDO:0024276 {source="NCIT:C2972"} ! glandular cell neoplasm property_value: exactMatch DOID:2634 property_value: exactMatch http://identifiers.org/mesh/D003537 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010633 property_value: exactMatch NCIT:C2972 [Term] id: MONDO:0002372 name: ovarian monodermal and highly specialized teratoma def: "A teratoma of the ovary composed exclusively or predominantly of a single type of tissue derived from the ectoderm or endoderm. A representative example is struma ovarii which is a teratoma composed exclusively or predominantly of thyroid tissue." [NCIT:C8113] synonym: "ovarian germ cell monodermal and highly specialised teratoma" EXACT OMO:0003005 [] synonym: "ovarian germ cell monodermal and highly specialized teratoma" EXACT [NCIT:C8113] synonym: "ovarian monodermal and highly specialized teratoma" EXACT [DOID:2641, NCIT:C8113] xref: DOID:2641 {source="MONDO:equivalentTo"} xref: NCIT:C8113 {source="DOID:2641", source="MONDO:equivalentTo"} xref: UMLS:C0280134 {source="NCIT:C8113", source="DOID:2641", source="MONDO:equivalentTo"} is_a: MONDO:0003331 {source="DOID:2641", source="NCIT:C8113"} ! ovarian monodermal teratoma property_value: exactMatch DOID:2641 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280134 property_value: exactMatch NCIT:C8113 [Term] id: MONDO:0002375 name: sebaceous adenoma def: "A benign, well circumscribed neoplasm arising from the sebaceous glands. It usually presents as a small yellowish tumor in the sun exposed skin of head and neck. It is characterized by the presence of sebaceous cells aggregates with a peripheral rim of basaloid cells." [NCIT:C4174] synonym: "adenoma of sebaceous gland" EXACT [NCIT:C4174] synonym: "adenoma of the sebaceous gland" EXACT [DOID:2648, NCIT:C4174] synonym: "adenoma, sebaceous, benign" EXACT [NCIT:C4174] synonym: "sebaceous adenoma (morphologic abnormality)" EXACT [DOID:2648] synonym: "sebaceous gland adenoma" EXACT [MONDO:patterns/location] synonym: "skin appendage sebaceous adenoma" EXACT [DOID:2648] xref: DOID:2648 {source="MONDO:equivalentTo"} xref: ICDO:8410/0 {source="NCIT:C4174"} xref: NCIT:C4174 {source="MONDO:equivalentTo", source="DOID:2648", source="MONDO:exact-label-match"} xref: UMLS:C1368816 {source="NCIT:C4174", source="MONDO:equivalentTo", source="DOID:2648"} is_a: EFO:0000232 {source="MONDO:Redundant", source="NCIT:C4174/inferred"} ! adenoma is_a: EFO:1001172 {source="DOID:2648", source="MONDO:Redundant", source="NCIT:C4174/inferred"} ! sebaceous gland neoplasm is_a: MONDO:0021634 {source="MONDO:Redundant", source="NCIT:C4174/inferred"} ! epithelial skin neoplasm property_value: exactMatch DOID:2648 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1368816 property_value: exactMatch NCIT:C4174 [Term] id: MONDO:0002376 name: spleen angiosarcoma def: "A malignant vascular neoplasm arising from the spleen." [NCIT:P378] synonym: "angiosarcoma (disease) of spleen" EXACT [] synonym: "angiosarcoma of spleen" EXACT [NCIT:C4564] synonym: "angiosarcoma of the spleen" EXACT [NCIT:C4564] synonym: "hemangiosarcoma of spleen" EXACT [NCIT:C4564] synonym: "hemangiosarcoma of the spleen" EXACT [NCIT:C4564] synonym: "spleen angiosarcoma (disease)" EXACT [MONDO:patterns/location] synonym: "splenic angiosarcoma" EXACT [NCIT:C4564] synonym: "splenic hemangiosarcoma" EXACT [DOID:265, NCIT:C4564] xref: DOID:265 {source="MONDO:equivalentTo"} xref: ICD9:159.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4564 {source="MONDO:equivalentTo", source="DOID:265"} xref: SCTID:187821001 {source="MONDO:equivalentTo", source="DOID:265"} xref: UMLS:C0346424 {source="MONDO:equivalentTo", source="NCIT:C4564", source="DOID:265"} is_a: EFO:0003968 {source="DOID:265", source="MONDO:Redundant", source="NCIT:C4564/inferred"} ! angiosarcoma is_a: EFO:0007491 {source="DOID:265", source="MONDO:Redundant", source="NCIT:C4564/inferred"} ! spleen cancer property_value: exactMatch DOID:265 property_value: exactMatch http://identifiers.org/snomedct/187821001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346424 property_value: exactMatch NCIT:C4564 [Term] id: MONDO:0002380 name: myoepithelial tumor def: "A benign or malignant tumor characterized by the presence of cells that show myoepithelial differentiation. Based on its morphologic features, it is classified as benign or malignant. A representative example of benign myoepithelioma is benign salivary gland myoepithelioma. Representative examples of malignant myoepithelioma or myoepithelial carcinoma are malignant breast myoepithelioma and salivary gland myoepithelial carcinoma." [NCIT:C40392] synonym: "benign myoepithelioma" NARROW [DOID:2661, NCIT:C7442] synonym: "myoepithelial adenoma" EXACT [DOID:2661] synonym: "myoepithelial neoplasm" EXACT [DOID:2661, NCIT:C40392] synonym: "myoepithelial tumor" EXACT [NCIT:C40392] synonym: "myoepithelioma" EXACT [NCIT:C40392] xref: DOID:2661 {source="MONDO:equivalentTo"} xref: ICDO:8982/0 {source="NCIT:C40392"} xref: ICDO:8982/1 {source="NCIT:C40392"} xref: MESH:D009208 {source="DOID:2661", source="MONDO:equivalentTo"} xref: NCIT:C40392 {source="DOID:2661", source="MONDO:equivalentTo"} xref: UMLS:C0027070 {source="DOID:2661", source="MONDO:equivalentTo", source="NCIT:C40392"} xref: UMLS:C1947949 {source="MONDO:equivalentTo"} is_a: EFO:0006858 ! epithelial neoplasm property_value: exactMatch DOID:2661 property_value: exactMatch http://identifiers.org/mesh/D009208 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027070 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1947949 property_value: exactMatch NCIT:C40392 [Term] id: MONDO:0002395 name: renal adenoma def: "An adenoma arising from the renal cortex." [NCIT:P378] synonym: "adenoma, renal cell, benign" EXACT [NCIT:C8383] synonym: "kidney adenoma" EXACT [NCIT:C8383] synonym: "renal adenoma" EXACT [NCIT:C8383] synonym: "renal cell adenoma" EXACT [DOID:2697] synonym: "renal cell adenoma (morphologic abnormality)" EXACT [DOID:2697] synonym: "renal tubule adenoma" EXACT [NCIT:C8383] xref: DOID:2697 {source="MONDO:equivalentTo"} xref: NCIT:C8383 {source="DOID:2697", source="MONDO:equivalentTo"} xref: UMLS:C0334684 {source="DOID:2697", source="MONDO:equivalentTo", source="NCIT:C8383"} is_a: EFO:0000232 {source="NCIT:C8383"} ! adenoma is_a: MONDO:0002513 ! kidney benign neoplasm is_a: MONDO:0036976 ! benign epithelial neoplasm property_value: exactMatch DOID:2697 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334684 property_value: exactMatch NCIT:C8383 [Term] id: MONDO:0002397 name: liver sarcoma def: "A malignant soft tissue neoplasm that arises from the liver. Representative examples include angiosarcoma, undifferentiated (embryonal) sarcoma, rhabdomyosarcoma, and leiomyosarcoma." [NCIT:C4437] synonym: "hepatic sarcoma" EXACT [DOID:270, NCIT:C4437] synonym: "liver sarcoma" EXACT [MONDO:patterns/location, NCIT:C4437] synonym: "sarcoma of liver" EXACT [MONDO:patterns/sarcoma, NCIT:C4437] synonym: "sarcoma of the liver" EXACT [NCIT:C4437] xref: DOID:270 {source="MONDO:equivalentTo"} xref: NCIT:C4437 {source="MONDO:equivalentTo", source="DOID:270", source="MONDO:exact-label-match"} xref: SCTID:254601002 {source="MONDO:equivalentTo", source="DOID:270"} xref: UMLS:C0345906 {source="MONDO:equivalentTo", source="DOID:270", source="NCIT:C4437"} is_a: EFO:1001968 {source="NCIT:C4437"} ! soft tissue sarcoma is_a: MONDO:0002691 {source="DOID:270", source="MONDO:Redundant", source="NCIT:C4437/inferred"} ! liver cancer property_value: exactMatch DOID:270 property_value: exactMatch http://identifiers.org/snomedct/254601002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345906 property_value: exactMatch NCIT:C4437 [Term] id: MONDO:0002398 name: mucinous adenofibroma def: "A benign adenofibroma characterized by the presence of epithelial cells which contain intracytoplasmic mucin and a fibrotic stroma. A representative example is the ovarian mucinous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline mucinous adenofibromas and have a low grade malignant potential." [NCIT:C8978] synonym: "mucinous adenofibroma" EXACT [NCIT:C8978] xref: DOID:2700 {source="MONDO:equivalentTo"} xref: ICDO:9015/0 {source="NCIT:C8978"} xref: NCIT:C8978 {source="MONDO:equivalentTo", source="DOID:2700", source="MONDO:exact-label-match"} xref: UMLS:C0334499 {source="MONDO:equivalentTo", source="DOID:2700", source="NCIT:C8978"} is_a: EFO:1000070 {source="DOID:2700", source="MONDO:Redundant", source="NCIT:C8978"} ! Adenofibroma is_a: MONDO:0024338 ! mucinous neoplasm is_a: MONDO:0036976 ! benign epithelial neoplasm intersection_of: EFO:1000070 ! Adenofibroma intersection_of: MONDO:0024338 ! mucinous neoplasm property_value: exactMatch DOID:2700 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334499 property_value: exactMatch NCIT:C8978 [Term] id: MONDO:0002402 name: malignant giant cell tumor def: "A malignant neoplasm characterized by then presence of atypical giant cells." [NCIT:C4090] synonym: "giant cell tumor, malignant" EXACT [MONDO:patterns/malignant, NCIT:C4090] synonym: "malignant giant cell neoplasm" EXACT [DOID:2705, NCIT:C4090] synonym: "malignant giant cell tumor" EXACT [NCIT:C4090] synonym: "malignant tumor, giant cell type" EXACT [DOID:2705] synonym: "malignant tumor, giant cell type (morphologic abnormality)" EXACT [DOID:2705] xref: DOID:2705 {source="MONDO:equivalentTo"} xref: ICDO:8003/3 {source="NCIT:C4090"} xref: NCIT:C4090 {source="MONDO:equivalentTo", source="DOID:2705"} xref: UMLS:C0334229 {source="MONDO:equivalentTo", source="NCIT:C4090", source="DOID:2705"} is_a: MONDO:0002171 {source="DOID:2705", source="MONDO:Redundant"} ! giant cell tumor is_a: MONDO:0004992 ! cancer property_value: exactMatch DOID:2705 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334229 property_value: exactMatch NCIT:C4090 [Term] id: MONDO:0002404 name: liver hemangioma def: "A hemangioma arising from the liver." [NCIT:C3869] synonym: "angioma of liver" EXACT [DOID:271, NCIT:C3869] synonym: "angioma of the liver" RELATED [NCIT:C3869] synonym: "hemangioma of liver" EXACT [NCIT:C3869] synonym: "hemangioma of the liver" RELATED [NCIT:C3869] synonym: "hepatic angioma" EXACT [DOID:271, NCIT:C3869] synonym: "hepatic hemangioma" RELATED [NCIT:C3869] synonym: "liver angioma" RELATED [NCIT:C3869] synonym: "liver hemangioma" EXACT [MONDO:patterns/location, NCIT:C3869] xref: DOID:271 {source="MONDO:equivalentTo"} xref: NCIT:C3869 {source="NCIT:C3869", source="DOID:271", source="MONDO:equivalentTo"} xref: SCTID:93469006 {source="DOID:271", source="MONDO:equivalentTo"} xref: UMLS:C0238246 {source="NCIT:C3869", source="DOID:271", source="MONDO:equivalentTo"} is_a: MONDO:0000385 {source="MONDO:Entailed", source="NCIT:C3869/inferred"} ! benign digestive system neoplasm is_a: MONDO:0000627 ! benign endocrine neoplasm is_a: MONDO:0002337 {source="DOID:271", source="NCIT:C3869"} ! intra-abdominal hemangioma is_a: MONDO:0024477 ! liver and intrahepatic bile duct neoplasm property_value: exactMatch DOID:271 property_value: exactMatch http://identifiers.org/snomedct/93469006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238246 property_value: exactMatch NCIT:C3869 [Term] id: MONDO:0002405 name: hepatic vascular disorder def: "A non-neoplastic or neoplastic vascular disorder that affects the liver. Representative examples include veno-occlusive disease, hemangioma, lymphangioma, and angiosarcoma." [NCIT:P378] synonym: "hepatic vascular disorder" EXACT [NCIT:C35442] synonym: "liver vascular disorder" EXACT [NCIT:C35442] synonym: "vascular disorder of liver" EXACT [DOID:272] xref: DOID:272 {source="MONDO:equivalentTo"} xref: ICD9:573.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C35442 {source="MONDO:equivalentTo", source="DOID:272"} xref: SCTID:235878005 {source="MONDO:equivalentTo", source="DOID:272"} xref: UMLS:C0400923 {source="MONDO:equivalentTo", source="NCIT:C35442", source="DOID:272"} is_a: EFO:0001421 {source="DOID:272", source="NCIT:C35442"} ! liver disease is_a: EFO:0004264 {source="DOID:272", source="NCIT:C35442"} ! vascular disease property_value: exactMatch DOID:272 property_value: exactMatch http://identifiers.org/snomedct/235878005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0400923 property_value: exactMatch NCIT:C35442 [Term] id: MONDO:0002406 name: dermatitis def: "An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis." [NCIT:C2983] synonym: "inflammation of skin" EXACT [NCIT:C2983] synonym: "inflammation of the skin" EXACT [NCIT:C2983] synonym: "inflammation of zone of skin" EXACT [] synonym: "inflammatory skin disease" EXACT [MONDO:0006501] synonym: "skin inflammation" EXACT [DOID:2723] synonym: "zone of skin inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:2723 {source="MONDO:equivalentTo"} xref: EFO:1000636 {source="MONDO:equivalentTo"} xref: ICD9:692.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D003872 {source="MONDO:equivalentTo", source="DOID:2723"} xref: NCIT:C2983 {source="MONDO:equivalentTo", source="DOID:2723"} xref: SCTID:43116000 {source="MONDO:equivalentTo", source="DOID:2723"} xref: UMLS:C0011603 {source="MONDO:equivalentTo", source="DOID:2723", source="NCIT:C2983"} is_a: EFO:0000701 {source="DOID:2723", source="EFO:1000636", source="MESH:D003872", source="MONDO:Redundant", source="NCIT:C2983/inferred"} ! skin disease is_a: EFO:0009903 {source="MONDO:Redundant"} ! inflammatory disease property_value: exactMatch DOID:2723 property_value: exactMatch http://identifiers.org/mesh/D003872 property_value: exactMatch http://identifiers.org/snomedct/43116000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011603 property_value: exactMatch NCIT:C2983 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002407 name: capillary hemangioma def: "A common hemangioma characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells." [NCIT:C7457] synonym: "capillary angioma" EXACT [NCIT:C7457] synonym: "capillary hemangioma" EXACT [MONDO:patterns/location, NCIT:C7457] synonym: "capillary hemangioma (morphologic abnormality)" EXACT [DOID:2725] synonym: "cellular hemangioma of infancy" NARROW [DOID:2725] synonym: "cellular hemangioma of infancy (strawberry nevus)" NARROW [DOID:2725, NCIT:C7394] synonym: "congenital vascular hamartoma" EXACT [DOID:2725] synonym: "congenital vascular naevus" EXACT [DOID:2725] synonym: "infantile hemangioma" NARROW [DOID:2725, NCIT:C7459] synonym: "juvenile hemangioma" NARROW [DOID:2725, NCIT:C7458] synonym: "strawberry haemangioma" EXACT [DOID:2725] synonym: "strawberry nevus" EXACT [DOID:2725] synonym: "strawberry nevus of skin" EXACT [DOID:2725] xref: DOID:2725 {source="MONDO:equivalentTo"} xref: ICDO:9131/0 {source="NCIT:C7457"} xref: MESH:D018324 {source="MONDO:equivalentTo", source="DOID:2725"} xref: NCIT:C7457 {source="MONDO:equivalentTo"} xref: SCTID:56975005 {source="MONDO:equivalentTo", source="DOID:2725"} xref: UMLS:C0206733 {source="MONDO:equivalentTo", source="DOID:2725"} is_a: EFO:1000635 {source="DOID:2725/inferred", source="MESH:D018324", source="NCIT:C7457"} ! hemangioma disjoint_from: MONDO:0018715 ! congenital hemangioma property_value: exactMatch DOID:2725 property_value: exactMatch http://identifiers.org/mesh/D018324 property_value: exactMatch http://identifiers.org/snomedct/56975005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206733 property_value: exactMatch NCIT:C7457 [Term] id: MONDO:0002408 name: hereditary hyperbilirubinemia def: "An inherited disorder affecting the metabolism of bilirubin. It results in increased levels of bilirubin in the blood. Representative examples of this condition include Gilbert syndrome and Crigler-Najjar syndrome." [NCIT:C84761] synonym: "bilirubin metabolic disorder" BROAD [DOID:2741] synonym: "hereditary hyperbilirubinemia" EXACT [DOID:2741, MONDO:patterns/hereditary] synonym: "hyperbilirubinaemia" BROAD [DOID:2741] synonym: "hyperbilirubinemia" BROAD [DOID:2741] xref: DOID:2741 {source="MONDO:equivalentTo"} xref: MESH:D006933 {source="DOID:2741", source="MONDO:equivalentTo"} xref: NCIT:C84761 {source="DOID:2741", source="MONDO:equivalentTo"} xref: OMIMPS:237450 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: SCTID:14783006 {source="MONDO:relatedTo", source="DOID:2741"} xref: UMLS:C0020433 {source="MONDO:relatedTo", source="DOID:2741"} xref: UMLS:C0020435 {source="DOID:2741", source="MONDO:equivalentTo", source="NCIT:C84761"} is_a: MONDO:0017755 ! inborn disorder of bilirubin metabolism property_value: exactMatch DOID:2741 property_value: exactMatch http://identifiers.org/mesh/D006933 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020435 property_value: exactMatch https://omim.org/phenotypicSeries/PS237450 property_value: exactMatch NCIT:C84761 [Term] id: MONDO:0002412 name: disorder of glycogen metabolism def: "An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues." [NCIT:C61272] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79201"} synonym: "glycogen metabolism disorder" EXACT [DOID:0050728, DOID:2747] synonym: "glycogen storage disease" EXACT [MONDO:0019244, OMIMPS:232200] synonym: "glycogen storage disorder" EXACT [] synonym: "glycogenoses" EXACT [DOID:2747, Wikipedia:Glycogen_storage_disease] synonym: "glycogenosis" EXACT [DOID:2747, Orphanet:79201] synonym: "GSD" EXACT ABBREVIATION [Orphanet:79201] synonym: "inborn error of glycogen metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn glycogen metabolic process disorder" EXACT [] synonym: "inborn glycogen storage disorder" EXACT [] synonym: "rare inborn error of glycogen metabolic process" EXACT [MONDO:patterns/inborn_metabolic] xref: DOID:0050728 {source="MONDO:equivalentTo"} xref: DOID:2747 {source="MONDO:equivalentTo"} xref: ICD10CM:E74.0 {source="Orphanet:79201/e", source="Orphanet:79201/specific", source="MONDO:equivalentTo", source="DOID:2747", source="Orphanet:79201"} xref: ICD9:271.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2747"} xref: MedDRA:10061990 {source="Orphanet:79201/e", source="Orphanet:79201"} xref: MESH:D006008 {source="Orphanet:79201/e", source="MONDO:equivalentTo", source="DOID:2747", source="Orphanet:79201"} xref: NCIT:C61272 {source="MONDO:equivalentTo", source="DOID:2747"} xref: OMIMPS:232200 {source="MONDO:equivalentTo"} xref: Orphanet:79201 {source="MONDO:equivalentTo"} xref: SCTID:29633007 {source="MONDO:equivalentTo", source="DOID:2747"} xref: UMLS:C0017919 {source="Orphanet:79201/e", source="MONDO:equivalentTo", source="NCIT:C61272", source="DOID:2747", source="Orphanet:79201"} is_a: MONDO:0019214 {source="DOID:0050728", source="DOID:2747/inferred", source="MESH:D006008", source="MONDO:Redundant", source="Orphanet:79201", source="PMID:33340416"} ! inborn carbohydrate metabolic disorder is_a: MONDO:0019243 ! inborn disorder of energy metabolism property_value: closeMatch http://identifiers.org/meddra/10061990 property_value: exactMatch DOID:0050728 property_value: exactMatch DOID:2747 property_value: exactMatch http://identifiers.org/mesh/D006008 property_value: exactMatch http://identifiers.org/snomedct/29633007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017919 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E74.0 property_value: exactMatch https://omim.org/phenotypicSeries/PS232200 property_value: exactMatch NCIT:C61272 property_value: exactMatch Orphanet:79201 property_value: excluded_subClassOf MONDO:0000422 {source="DOID:2747"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0002413 name: glycogen storage disease I alt_id: MONDO:0018220 def: "Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver." [Orphanet:364] subset: ordo_disease {source="Orphanet:364"} synonym: "deficiency of glucose-6-phosphatase" EXACT [DOID:2749] synonym: "G6P deficiency" EXACT [Orphanet:364] synonym: "glycogen storage disease due to G6P deficiency" EXACT [Orphanet:364] synonym: "glycogen storage disease due to glucose-6-phosphatase deficiency" EXACT [Orphanet:364] synonym: "glycogen storage disease I" EXACT [] synonym: "glycogen storage disease type 1" EXACT [Orphanet:364] synonym: "glycogen storage disease type I" EXACT [DOID:2749, MONDORULE:1, Orphanet:364] synonym: "glycogen storage disease, type I" EXACT [DOID:2749, https://www.ncbi.nlm.nih.gov/books/NBK1312/] synonym: "glycogenosis type 1" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1312/, Orphanet:364] synonym: "glycogenosis type I" EXACT [DOID:2749, https://www.ncbi.nlm.nih.gov/books/NBK1312/, Orphanet:364] synonym: "GSD due to G6P deficiency" EXACT [Orphanet:364] synonym: "GSD type 1" EXACT [Orphanet:364] synonym: "GSD type I" EXACT [Orphanet:364] synonym: "GSD1" EXACT ABBREVIATION [] synonym: "hepatorenal glycogenosis" EXACT [Orphanet:364] synonym: "von Gierke disease" EXACT [DOID:2749, https://www.ncbi.nlm.nih.gov/books/NBK1312/, Orphanet:364] synonym: "von Gierke's disease" EXACT [DOID:2749, https://www.ncbi.nlm.nih.gov/books/NBK1312/] xref: DOID:0081329 {source="MONDO:equivalentTo"} xref: ICD10CM:E74.01 {source="MONDO:equivalentTo", source="DOID:2749"} xref: MedDRA:10018464 {source="Orphanet:364/e", source="Orphanet:364"} xref: MESH:D005953 {source="MONDO:equivalentTo", source="DOID:2749", source="MONDO:directSiblingOf"} xref: NCIT:C84733 {source="MONDO:equivalentTo", source="DOID:2749"} xref: Orphanet:364 {source="MONDO:equivalentTo"} xref: SCTID:7265005 {source="MONDO:equivalentTo", source="DOID:2749"} is_a: MONDO:0002412 {source="DOID:2749", source="DOID:2749/inferred", source="ICD10CM:E74.01", source="MESH:D005953", source="NCIT:C84733", source="Orphanet:364"} ! disorder of glycogen metabolism relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare property_value: closeMatch http://identifiers.org/meddra/10018464 property_value: exactMatch DOID:0081329 property_value: exactMatch http://identifiers.org/mesh/D005953 property_value: exactMatch http://identifiers.org/snomedct/7265005 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E74.01 property_value: exactMatch NCIT:C84733 property_value: exactMatch Orphanet:364 property_value: excluded_subClassOf MONDO:0019743 {source="Orphanet:364"} [Term] id: MONDO:0002415 name: bone carcinoma def: "A carcinoma that involves the bone element." [MONDO:patterns/location] synonym: "bone element carcinoma" EXACT [MONDO:patterns/location] synonym: "carcinoma of bone element" EXACT [MONDO:patterns/carcinoma] xref: DOID:2762 {source="MONDO:equivalentTo"} xref: NCIT:C36082 {source="MONDO:relatedTo", source="DOID:2762"} xref: UMLS:C0700110 {source="MONDO:relatedTo", source="DOID:2762"} is_a: EFO:0000313 ! carcinoma is_a: EFO:1000350 {source="DOID:2762", source="MONDO:Entailed", source="MONDO:Redundant"} ! Malignant Bone Neoplasm property_value: exactMatch DOID:2762 [Term] id: MONDO:0002416 name: ethmoid sinus squamous cell carcinoma def: "A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis." [NCIT:P378] synonym: "epidermoid carcinoma of ethmoid sinus" EXACT [NCIT:C6065] synonym: "epidermoid carcinoma of ethmoidal sinus" EXACT [NCIT:C6065] synonym: "epidermoid carcinoma of the ethmoid sinus" EXACT [NCIT:C6065] synonym: "epidermoid carcinoma of the ethmoidal sinus" EXACT [DOID:2763, NCIT:C6065] synonym: "ethmoid sinus epidermoid carcinoma" EXACT [NCIT:C6065] synonym: "ethmoid sinus squamous cell carcinoma" EXACT [MONDO:patterns/location] synonym: "ethmoidal sinus epidermoid carcinoma" EXACT [NCIT:C6065] synonym: "ethmoidal sinus squamous cell carcinoma" EXACT [NCIT:C6065] synonym: "squamous cell carcinoma of ethmoid sinus" EXACT [NCIT:C6065] synonym: "squamous cell carcinoma of ethmoidal sinus" EXACT [NCIT:C6065] synonym: "squamous cell carcinoma of the ethmoid sinus" EXACT [NCIT:C6065] synonym: "squamous cell carcinoma of the ethmoidal sinus" EXACT [NCIT:C6065] xref: DOID:2763 {source="MONDO:equivalentTo"} xref: NCIT:C6065 {source="DOID:2763", source="MONDO:equivalentTo"} xref: SCTID:707359008 {source="MONDO:equivalentTo"} xref: UMLS:C1333477 {source="NCIT:C6065", source="DOID:2763", source="MONDO:equivalentTo"} is_a: MONDO:0001763 {source="DOID:2763", source="MONDO:Redundant", source="NCIT:C6065"} ! ethmoid sinus cancer is_a: MONDO:0044705 ! paranasal sinus squamous cell carcinoma property_value: exactMatch DOID:2763 property_value: exactMatch http://identifiers.org/snomedct/707359008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333477 property_value: exactMatch NCIT:C6065 [Term] id: MONDO:0002420 name: tic disorder def: "Disorders characterized by recurrent TICS that may interfere with speech and other activities. Tics are sudden, rapid, nonrhythmic, stereotyped motor movements or vocalizations which may be exacerbated by stress and are generally attenuated during absorbing activities. Tic disorders are distinguished from conditions which feature other types of abnormal movements that may accompany another another condition. (From DSM-IV, 1994)" [MESH:D013981] xref: DOID:2769 {source="MONDO:equivalentTo"} xref: ICD9:307.2 {source="DOID:2769"} xref: ICD9:307.20 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2769"} xref: MESH:D013981 {source="MONDO:equivalentTo", source="DOID:2769"} xref: SCTID:568005 {source="MONDO:equivalentTo", source="DOID:2769"} is_a: MONDO:0000592 {source="DOID:2769"} ! specific developmental disorder property_value: exactMatch DOID:2769 property_value: exactMatch http://identifiers.org/mesh/D013981 property_value: exactMatch http://identifiers.org/snomedct/568005 [Term] id: MONDO:0002422 name: adamantinoma def: "A low grade malignant neoplasm arising from the long bones. The tibia is the most frequently affected bone site. Patients present with swelling which may or may not be associated with pain. Morphologically, it is characterized by a biphasic pattern consisting of an epithelial and an osteofibrous component. The vast majority of cases recur if they are not treated with radical surgery. In a minority of cases the tumor may metastasize to other anatomic sites including lymph nodes, lungs, liver, brain, and skeleton." [NCIT:C7644] subset: ordo_disease {source="Orphanet:55881"} synonym: "adamantinoma" EXACT [NCIT:C7644] synonym: "adamantinoma of long bone" RELATED [DOID:2775] synonym: "adamantinoma of long bones" EXACT [DOID:2775, NCIT:C7644, OMIM:102660, Orphanet:55881] synonym: "adamantinoma of long bones (morphologic abnormality)" EXACT [DOID:2775] synonym: "adamantinoma, malignant" EXACT [NCIT:C7644] synonym: "Extragnathic adamantinoma" EXACT [NCIT:C7644] synonym: "long bone adamantinoma" EXACT [MONDO:0007063, MONDO:patterns/location] xref: DOID:2775 {source="MONDO:equivalentTo"} xref: DOID:2776 {source="MONDO:equivalentTo"} xref: ICD10CM:C40.2 {source="Orphanet:55881/index", source="Orphanet:55881/ntbt", source="Orphanet:55881", source="MONDO:directSiblingOf"} xref: ICD9:170.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9261/3 {source="NCIT:C7644"} xref: MESH:C562741 {source="MONDO:equivalentTo", source="DOID:2775"} xref: MESH:D050398 {source="Orphanet:55881/e", source="DOID:2776", source="MONDO:equivalentTo", source="Orphanet:55881"} xref: NCIT:C7644 {source="DOID:2776", source="MONDO:equivalentTo"} xref: OMIM:102660 {source="Orphanet:55881/e", source="MONDO:equivalentTo", source="DOID:2775", source="Orphanet:55881"} xref: ONCOTREE:ADMA {source="MONDO:equivalentTo"} xref: Orphanet:55881 {source="OMIM:102660", source="MONDO:equivalentTo"} xref: SCTID:307609003 {source="MONDO:equivalentTo", source="DOID:2775"} xref: UMLS:C0334556 {source="OMIM:102660", source="MONDO:equivalentTo", source="NCIT:C7644", source="DOID:2775", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C1367554 {source="Orphanet:55881/e", source="MONDO:equivalentObsolete", source="DOID:2776", source="Orphanet:55881"} is_a: MONDO:0002415 ! bone carcinoma property_value: exactMatch DOID:2775 property_value: exactMatch DOID:2776 property_value: exactMatch http://identifiers.org/mesh/C562741 property_value: exactMatch http://identifiers.org/mesh/D050398 property_value: exactMatch http://identifiers.org/snomedct/307609003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334556 property_value: exactMatch https://omim.org/entry/102660 property_value: exactMatch NCIT:C7644 property_value: exactMatch Orphanet:55881 property_value: excluded_subClassOf MONDO:0015959 {source="Orphanet:55881"} [Term] id: MONDO:0002423 name: rectosigmoid junction neoplasm def: "A benign or malignant neoplasm that affects the rectosigmoid region. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectosigmoid adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." [NCIT:C4877] synonym: "neoplasm of rectosigmoid junction" EXACT [MONDO:patterns/neoplasm, NCIT:C4877] synonym: "neoplasm of the rectosigmoid junction" EXACT [NCIT:C4877] synonym: "rectosigmoid junction neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "rectosigmoid junction tumor" EXACT [MONDO:patterns/neoplasm] synonym: "rectosigmoid junction tumour" EXACT OMO:0003005 [] synonym: "rectosigmoid neoplasm" EXACT [DOID:2780, NCIT:C4877] synonym: "rectosigmoid tumor" EXACT [DOID:2780, NCIT:C4877] synonym: "rectosigmoid tumour" EXACT OMO:0003005 [] synonym: "tumor of rectosigmoid junction" EXACT [MONDO:patterns/neoplasm, NCIT:C4877] synonym: "tumor of the rectosigmoid junction" EXACT [NCIT:C4877] synonym: "tumour of rectosigmoid junction" EXACT OMO:0003005 [] synonym: "tumour of the rectosigmoid junction" EXACT OMO:0003005 [] xref: DOID:2780 {source="MONDO:equivalentTo"} xref: NCIT:C4877 {source="DOID:2780", source="MONDO:equivalentTo"} xref: SCTID:126848003 {source="DOID:2780", source="MONDO:equivalentTo"} xref: UMLS:C0345873 {source="DOID:2780", source="MONDO:equivalentTo", source="NCIT:C4877"} is_a: EFO:1001181 {source="DOID:2780"} ! sigmoid neoplasm property_value: exactMatch DOID:2780 property_value: exactMatch http://identifiers.org/snomedct/126848003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345873 property_value: exactMatch NCIT:C4877 property_value: excluded_subClassOf MONDO:0002165 {source="DOID:2780"} property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002426 name: lung sarcoma def: "A malignant mesenchymal neoplasm that arises from the lung. Representative examples include Kaposi sarcoma, leiomyosarcoma, and synovial sarcoma." [NCIT:C4860] synonym: "lung sarcoma" EXACT [MONDO:patterns/location, NCIT:C4860] synonym: "pulmonary sarcoma" EXACT [DOID:2784, NCIT:C4860] synonym: "sarcoma of lung" EXACT [MONDO:patterns/sarcoma, NCIT:C4860] synonym: "sarcoma of the lung" EXACT [NCIT:C4860] xref: DOID:2784 {source="MONDO:equivalentTo"} xref: NCIT:C4860 {source="DOID:2784", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C0598790 {source="DOID:2784", source="MONDO:equivalentTo", source="NCIT:C4860"} is_a: EFO:1001968 {source="NCIT:C4860"} ! soft tissue sarcoma is_a: MONDO:0008903 {source="DOID:2784", source="MONDO:Redundant", source="NCIT:C4860"} ! lung cancer property_value: exactMatch DOID:2784 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0598790 property_value: exactMatch NCIT:C4860 [Term] id: MONDO:0002427 name: cerebellar disorder def: "Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia." [MESH:D002526] synonym: "cerebellum disease" EXACT [MONDO:patterns/location] synonym: "cerebellum disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "disease of cerebellum" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of cerebellum" EXACT [] synonym: "disorder of cerebellum" EXACT [MONDO:patterns/location_top] xref: DOID:2786 {source="MONDO:equivalentTo"} xref: MESH:D002526 {source="MONDO:equivalentTo", source="DOID:2786"} xref: SCTID:223176004 {source="MONDO:equivalentTo", source="DOID:2786"} xref: UMLS:C0007760 {source="MONDO:equivalentTo", source="DOID:2786"} is_a: EFO:0005774 {source="DOID:2786", source="MESH:D002526", source="MONDO:Redundant"} ! brain disease property_value: exactMatch DOID:2786 property_value: exactMatch http://identifiers.org/mesh/D002526 property_value: exactMatch http://identifiers.org/snomedct/223176004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007760 [Term] id: MONDO:0002428 name: protozoa infectious disease def: "An infection that is caused by protozoans." [NCIT:C34953] synonym: "Mastigophora infectious disease" NARROW [DOID:2789] synonym: "parasitic protozoa infectious disease" RELATED [DOID:2789] synonym: "protozoal infection" EXACT [NCIT:C34953] synonym: "sarcomastigophora infectious disease" NARROW [DOID:2789] xref: DOID:2789 {source="MONDO:equivalentTo"} xref: ICD10CM:B50-B64 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="DOID:2789", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: MESH:D011528 {source="MONDO:equivalentTo", source="DOID:2789"} xref: NCIT:C34953 {source="MONDO:equivalentTo", source="DOID:2789"} is_a: EFO:0001067 {source="DOID:2789", source="MESH:D011528", source="NCIT:C34953"} ! parasitic infection property_value: exactMatch DOID:2789 property_value: exactMatch http://identifiers.org/mesh/D011528 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B50-B64 property_value: exactMatch NCIT:C34953 [Term] id: MONDO:0002429 name: idiopathic interstitial pneumonia def: "A class of diffuse lung diseases that typically affect the pulmonary interstitium, although some also have a component affecting the airways (for instance, Cryptogenic organizing pneumonitis)." [Wikipedia:Idiopathic_interstitial_pneumonia] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98300"} synonym: "diffuse idiopathic pulmonary fibrosis" EXACT [DOID:2797] synonym: "idiopathic fibrosing alveolitis" EXACT [DOID:2797, ICD9CM:516.3] synonym: "idiopathic interstitial pneumonitis" EXACT [https://orcid.org/0000-0003-0113-912X] synonym: "IIp" EXACT [NCIT:C35714] synonym: "IPF" RELATED ABBREVIATION [DOID:2797] synonym: "noninfectious pneumonia" EXACT [Wikipedia:Idiopathic_interstitial_pneumonia] xref: DOID:2797 {source="MONDO:equivalentTo"} xref: MESH:D054988 {source="Orphanet:98300", source="MONDO:equivalentTo", source="Orphanet:98300/e"} xref: NCIT:C35714 {source="MONDO:equivalentTo"} xref: Orphanet:98300 {source="MONDO:equivalentTo"} xref: SCTID:700249006 {source="MONDO:equivalentTo"} xref: UMLS:C2350236 {source="Orphanet:98300", source="MONDO:equivalentTo", source="Orphanet:98300/e", source="NCIT:C35714"} is_a: EFO:0003106 {source="DOID:2797", source="NCIT:C35714/inferred"} ! pneumonia is_a: MONDO:0017027 {source="Orphanet:98300"} ! primary interstitial lung disease specific to adulthood is_a: MONDO:0700007 ! idiopathic disease property_value: exactMatch DOID:2797 property_value: exactMatch http://identifiers.org/mesh/D054988 property_value: exactMatch http://identifiers.org/snomedct/700249006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2350236 property_value: exactMatch NCIT:C35714 property_value: exactMatch Orphanet:98300 [Term] id: MONDO:0002436 name: nasal disorder def: "A disease involving the nose." [https://orcid.org/0000-0002-6601-2165] synonym: "disease of nose" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of nose" EXACT [] synonym: "disorder of nose" EXACT [MONDO:patterns/location_top] synonym: "disorder of the nose" EXACT [DOID:2825] synonym: "nasal disorder" EXACT [DOID:2825] synonym: "nose disease" EXACT [https://orcid.org/0000-0002-0736-9199, MONDO:patterns/location] synonym: "nose disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:2825 {source="MONDO:equivalentTo"} xref: ICD9:478.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D009668 {source="MONDO:equivalentTo", source="DOID:2825"} xref: SCTID:89488007 {source="MONDO:equivalentTo", source="DOID:2825"} xref: UMLS:C0028432 {source="MONDO:equivalentTo", source="DOID:2825"} is_a: MONDO:0024623 {source="https://orcid.org/0000-0002-0736-9199"} ! otorhinolaryngologic disease property_value: exactMatch DOID:2825 property_value: exactMatch http://identifiers.org/mesh/D009668 property_value: exactMatch http://identifiers.org/snomedct/89488007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0028432 property_value: excluded_subClassOf MONDO:0004867 {source="DOID:2825"} property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002438 name: acquired polycythemia def: "An instance of polycythemia that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] synonym: "acquired polycythemia" EXACT [MONDO:patterns/acquired] synonym: "acquired polycythemia (disease)" EXACT [MONDO:patterns/acquired] synonym: "polycythemia, secondary" RELATED [DOID:2834] xref: DOID:2834 {source="MONDO:equivalentTo"} xref: ICD9:289.0 {source="DOID:2834"} xref: NCIT:C27178 {source="DOID:2834", source="MONDO:directSiblingOf"} xref: UMLS:C1318533 {source="DOID:2834", source="MONDO:directSiblingOf"} is_a: EFO:0005804 {source="DOID:2834", source="MONDO:Entailed", source="MONDO:Redundant"} ! polycythemia intersection_of: EFO:0005804 ! polycythemia intersection_of: has_characteristic MONDO:0021141 ! acquired relationship: has_characteristic MONDO:0021141 ! acquired property_value: exactMatch DOID:2834 [Term] id: MONDO:0002441 name: Jervell and Lange-Nielsen syndrome def: "An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1 genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT syndrome." [NCIT:P378] subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:90647"} subset: prototype_pattern synonym: "Cardioauditory syndrome of Jervell and Lange-Nielsen" RELATED [GARD:0003048] synonym: "deafness, congenital, and functional heart disease" RELATED [GARD:0003048] synonym: "Jervell and Lange Nielsen syndrome" EXACT [NCIT:C84793] synonym: "Jervell and Lange-Nielsen syndrome 1" RELATED [MONDO:Lexical, OMIM:220400] synonym: "Jervell and Lange-Nielsen syndrome type 1" RELATED [MONDORULE:1, OMIM:220400] synonym: "Jervell and Lange-Nielson syndrome" EXACT [DOID:2842] synonym: "Jervell Lange-Nielsen syndrome" EXACT [GARD:0003048] synonym: "Jervell-Lange Nielsen syndrome" EXACT [DOID:2842] synonym: "JLNS1" RELATED ABBREVIATION [GARD:0003048, OMIM:220400] synonym: "long QT interval-deafness syndrome" EXACT [Orphanet:90647] synonym: "prolonged QT interval in EKG and sudden death" RELATED [GARD:0003048] synonym: "Surdo-cardiac syndrome" RELATED [GARD:0003048] xref: DOID:2842 {source="MONDO:equivalentTo"} xref: MedDRA:10057936 {source="Orphanet:90647/e", source="Orphanet:90647"} xref: MESH:D029593 {source="DOID:2842", source="MONDO:equivalentTo"} xref: NCIT:C84793 {source="MONDO:equivalentTo"} xref: OMIMPS:220400 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:90647 {source="GARD:0003048", source="MONDO:equivalentTo", source="OMIM:220400"} xref: SCTID:373905003 {source="DOID:2842", source="MONDO:equivalentTo"} xref: UMLS:C0022387 {source="GARD:0003048", source="Orphanet:90647/e", source="DOID:2842", source="MONDO:equivalentTo", source="NCIT:C84793", source="OMIM:220400", source="Orphanet:90647"} is_a: MONDO:0019171 ! familial long QT syndrome property_value: closeMatch http://identifiers.org/meddra/10057936 property_value: exactMatch DOID:2842 property_value: exactMatch http://identifiers.org/mesh/D029593 property_value: exactMatch http://identifiers.org/snomedct/373905003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022387 property_value: exactMatch https://omim.org/phenotypicSeries/PS220400 property_value: exactMatch NCIT:C84793 property_value: exactMatch Orphanet:90647 property_value: excluded_subClassOf MONDO:0019171 {source="MONDO:Redundant", source="Orphanet:90647"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3048/jervell-lange-nielsen-syndrome xsd:anyURI {source="GARD:0003048"} [Term] id: MONDO:0002450 name: prostatic adenoma def: "Focal benign glandular hyperplasia in the prostate gland." [NCIT:P378] synonym: "adenoma - prostate" EXACT [DOID:2883] synonym: "adenoma of prostate" EXACT [DOID:2883, NCIT:C4795] synonym: "adenoma of the prostate" EXACT [NCIT:C4795] synonym: "benign adenoma of prostate" EXACT [DOID:2883] synonym: "prostate adenoma" EXACT [DOID:2883, NCIT:C4795] synonym: "prostate gland adenoma" EXACT [MONDO:patterns/location] xref: DOID:2883 {source="MONDO:equivalentTo"} xref: ICD9:600.20 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D011470 {source="DOID:2883", source="MONDO:directSiblingOf"} xref: NCIT:C4795 {source="DOID:2883", source="MONDO:equivalentTo"} xref: SCTID:21173002 {source="DOID:2883", source="MONDO:equivalentTo"} xref: SCTID:266569009 {source="DOID:2883", source="MONDO:directSiblingOf"} xref: UMLS:C0520477 {source="DOID:2883", source="MONDO:equivalentTo", source="NCIT:C4795"} is_a: EFO:0000232 {source="DOID:2883", source="MONDO:Redundant", source="NCIT:C4795"} ! adenoma is_a: MONDO:0021510 {source="MONDO:Redundant", source="NCIT:C4795"} ! benign neoplasm of prostate is_a: MONDO:0036976 ! benign epithelial neoplasm property_value: exactMatch DOID:2883 property_value: exactMatch http://identifiers.org/snomedct/21173002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0520477 property_value: exactMatch NCIT:C4795 [Term] id: MONDO:0002453 name: retrocochlear disease def: "Pathological processes involving the vestibulocochlear nerve; brainstem; or central nervous system. When hearing loss is due to retrocochlear pathology, it is called retrocochlear hearing loss." [MESH:D012181] xref: DOID:2889 {source="MONDO:equivalentTo"} xref: MESH:D012181 {source="MONDO:equivalentTo", source="DOID:2889"} xref: UMLS:C0035352 {source="MONDO:equivalentTo", source="DOID:2889"} is_a: EFO:1001455 {source="DOID:2889"} ! auditory system disease property_value: exactMatch DOID:2889 property_value: exactMatch http://identifiers.org/mesh/D012181 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035352 [Term] id: MONDO:0002457 name: Treacher-Collins syndrome def: "A congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." [https://orcid.org/0000-0001-5208-3432, Orphanet:861] subset: ordo_malformation_syndrome {source="Orphanet:861"} subset: prototype_pattern synonym: "Franceschetti syndrome" EXACT [DOID:2908] synonym: "Franceschetti-Klein syndrome" EXACT [Orphanet:861] synonym: "mandibulofacial dysostosis without limb anomalies" EXACT [Orphanet:861] synonym: "MFD1" RELATED ABBREVIATION [GARD:0009124] synonym: "TCOF" RELATED ABBREVIATION [GARD:0009124] synonym: "TCS" RELATED ABBREVIATION [GARD:0009124] synonym: "Treacher Collins syndrome" RELATED [DOID:2908] synonym: "Treacher-Collins syndrome" EXACT [] xref: DOID:2908 {source="MONDO:equivalentTo"} xref: MedDRA:10051456 {source="Orphanet:861/e", source="Orphanet:861"} xref: NCIT:C75018 {source="DOID:2908", source="MONDO:equivalentTo"} xref: OMIMPS:154500 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:861 {source="MONDO:equivalentTo", source="OMIM:154500"} xref: SCTID:62767009 {source="MONDO:equivalentTo"} xref: UMLS:C0265241 {source="Orphanet:861/e", source="MONDO:equivalentTo", source="Orphanet:861"} is_a: MONDO:0000426 {source="DOID:2908", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75018"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:861"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015483 {source="Orphanet:861"} ! mandibulofacial dysostosis is_a: MONDO:0018751 ! hereditary otorhinolaryngologic disease property_value: closeMatch http://identifiers.org/meddra/10051456 property_value: exactMatch DOID:2908 property_value: exactMatch http://identifiers.org/snomedct/62767009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265241 property_value: exactMatch https://omim.org/phenotypicSeries/PS154500 property_value: exactMatch NCIT:C75018 property_value: exactMatch Orphanet:861 property_value: excluded_subClassOf MONDO:0015334 {source="Orphanet:861"} property_value: excluded_subClassOf MONDO:0015368 property_value: excluded_subClassOf MONDO:0020157 {source="Orphanet:861"} property_value: excluded_subClassOf MONDO:0020167 {source="Orphanet:861"} property_value: excluded_subClassOf MONDO:0020190 {source="Orphanet:861"} [Term] id: MONDO:0002459 name: type IV hypersensitivity disease def: "A disease that has its basis in the disruption of type IV hypersensitivity." [MONDO:patterns/basis_in_disruption_of_process] comment: We make this equivalent with the UMLS concept for the reaction synonym: "delayed hypersensitivity reaction" EXACT [NCIT:C3115] synonym: "delayed-type hypersensitivity" EXACT [NCIT:C3115] synonym: "delayed-type hypersensitivity response" EXACT [NCIT:C3115] synonym: "disorder of type IV hypersensitivity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "DTH" EXACT ABBREVIATION [NCIT:C3115] synonym: "hypersensitivity reaction type IV disease" RELATED [DOID:2916] synonym: "immunoproliferative disease" RELATED [DOID:2916] synonym: "type 4 hypersensitivity reaction" EXACT [NCIT:C3115] synonym: "type IV hypersensitivity" EXACT [NCIT:C3115] synonym: "type IV hypersensitivity reaction" EXACT [NCIT:C3115] xref: DOID:2916 {source="MONDO:equivalentTo"} xref: NCIT:C3115 {source="MONDO:equivalentTo"} xref: UMLS:C0020522 {source="MONDO:equivalentTo", source="NCIT:C3115"} is_a: EFO:1002003 {source="DOID:2916", source="MONDO:Entailed", source="NCIT:C3115"} ! hypersensitivity reaction disease property_value: exactMatch DOID:2916 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020522 property_value: exactMatch NCIT:C3115 [Term] id: MONDO:0002460 name: lacrimal system cancer def: "A cancer that involves the lacrimal apparatus." [MONDO:patterns/location] synonym: "cancer of lacrimal apparatus" EXACT [MONDO:patterns/cancer] synonym: "lacrimal apparatus cancer" EXACT [] synonym: "lacrimal system neoplasm" EXACT [DOID:292] synonym: "lacrimal system neoplasms" EXACT [NCIT:C5102] synonym: "lacrimal system tumor" EXACT [NCIT:C5102] synonym: "lacrimal system tumour" EXACT OMO:0003005 [] synonym: "malignant lacrimal apparatus neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of lacrimal apparatus" EXACT [MONDO:patterns/cancer] synonym: "neoplasm of lacrimal system" EXACT [NCIT:C5102] synonym: "neoplasm of the lacrimal system" EXACT [NCIT:C5102] synonym: "tumor of lacrimal system" EXACT [NCIT:C5102] synonym: "tumor of the lacrimal system" EXACT [DOID:292, NCIT:C5102] synonym: "tumour of lacrimal system" EXACT OMO:0003005 [] synonym: "tumour of the lacrimal system" EXACT OMO:0003005 [] xref: DOID:292 {source="MONDO:equivalentTo"} xref: NCIT:C5102 {source="MONDO:equivalentTo", source="DOID:292"} xref: SCTID:416510003 {source="MONDO:equivalentTo", source="DOID:292"} xref: UMLS:C1334361 {source="MONDO:equivalentTo", source="DOID:292", source="NCIT:C5102"} is_a: EFO:0009455 ! lacrimal apparatus disease is_a: MONDO:0002236 ! ocular cancer property_value: exactMatch DOID:292 property_value: exactMatch http://identifiers.org/snomedct/416510003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334361 property_value: exactMatch NCIT:C5102 property_value: excluded_subClassOf MONDO:0002236 {source="DOID:292"} [Term] id: MONDO:0002462 name: glomerulonephritis def: "A renal disorder characterized by damage in the glomeruli. It may be acute or chronic, focal or diffuse, and it may lead to renal failure. Causes include autoimmune disorders, infections, diabetes, and malignancies." [NCIT:P378] synonym: "bright's disease" RELATED [GARD:0006516] synonym: "glomerular nephritis" EXACT [NCIT:C26784] synonym: "glomerulonephritis" EXACT [MONDO:ambiguous] synonym: "glomerulonephritis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "nephritis of renal glomerulus" EXACT [MONDO:design_pattern] synonym: "renal glomerulus nephritis" EXACT [MONDO:patterns/location] xref: DOID:2921 {source="MONDO:equivalentTo"} xref: HP:0000099 {source="MONDO:otherHierarchy"} xref: ICD9:583.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D005921 {source="MONDO:equivalentTo", source="DOID:2921"} xref: NCIT:C26784 {source="MONDO:equivalentTo", source="DOID:2921"} xref: SCTID:36171008 {source="MONDO:equivalentTo", source="DOID:2921"} xref: UMLS:C0017658 {source="NCIT:C26784", source="MONDO:equivalentTo", source="DOID:2921"} is_a: EFO:1002049 {source="MONDO:Redundant"} ! glomerular disease is_a: EFO:1002050 {source="DOID:2921", source="MESH:D005921", source="MONDO:Redundant", source="NCIT:C26784"} ! nephritis relationship: disease_causes_feature EFO:1002048 ! kidney failure property_value: exactMatch DOID:2921 property_value: exactMatch http://identifiers.org/mesh/D005921 property_value: exactMatch http://identifiers.org/snomedct/36171008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017658 property_value: exactMatch NCIT:C26784 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000589 "glomerulonephritis (disease)" xsd:string [Term] id: MONDO:0002463 name: lacrimal gland carcinoma def: "A carcinoma that arises from epithelial cells of the lacrimal gland." [https://orcid.org/0000-0002-6601-2165] synonym: "carcinoma of lacrimal gland" EXACT [MONDO:patterns/carcinoma, NCIT:C6129] synonym: "carcinoma of the lacrimal gland" EXACT [DOID:293, NCIT:C6129] synonym: "lacrimal gland carcinoma" EXACT [MONDO:patterns/location, NCIT:C6129] xref: DOID:293 {source="MONDO:equivalentTo"} xref: NCIT:C6129 {source="DOID:293", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1334358 {source="DOID:293", source="MONDO:equivalentTo", source="NCIT:C6129"} is_a: MONDO:0002464 {source="DOID:293", source="MONDO:Redundant", source="NCIT:C6129"} ! lacrimal gland cancer is_a: MONDO:0002466 {source="MONDO:Redundant", source="NCIT:C6129"} ! eye carcinoma property_value: exactMatch DOID:293 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334358 property_value: exactMatch NCIT:C6129 [Term] id: MONDO:0002464 name: lacrimal gland cancer def: "A malignant neoplasm involving the lacrimal gland." [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of lacrimal gland" EXACT [MONDO:patterns/cancer] synonym: "lacrimal gland cancer" EXACT [MONDO:patterns/location] synonym: "malignant lacrimal gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3563] synonym: "malignant lacrimal gland tumor" EXACT [NCIT:C3563] synonym: "malignant lacrimal gland tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of lacrimal gland" EXACT [DOID:294, MONDO:patterns/cancer, NCIT:C3563] synonym: "malignant neoplasm of the lacrimal gland" EXACT [NCIT:C3563] synonym: "malignant tumor of lacrimal gland" EXACT [DOID:294, NCIT:C3563] synonym: "malignant tumor of the lacrimal gland" EXACT [NCIT:C3563] synonym: "malignant tumour of lacrimal gland" EXACT OMO:0003005 [] synonym: "malignant tumour of the lacrimal gland" EXACT OMO:0003005 [] synonym: "tumor of the lacrimal gland" BROAD [DOID:294, NCIT:C4360] synonym: "tumour of the lacrimal gland" BROAD OMO:0003005 [] xref: DOID:294 {source="MONDO:equivalentTo"} xref: ICD9:190.2 {source="DOID:294"} xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C3563 {source="MONDO:equivalentTo", source="DOID:294"} xref: SCTID:127004000 {source="MONDO:equivalentTo", source="DOID:294"} is_a: MONDO:0002460 {source="DOID:294", source="MONDO:Redundant", source="NCIT:C3563/inferred"} ! lacrimal system cancer is_a: MONDO:0021222 {source="MONDO:Redundant", source="NCIT:C3563"} ! lacrimal gland neoplasm property_value: exactMatch DOID:294 property_value: exactMatch http://identifiers.org/snomedct/127004000 property_value: exactMatch NCIT:C3563 [Term] id: MONDO:0002465 name: bronchiolitis def: "Inflammation of the bronchioles characterized by swelling of the bronchioles and mucus accumulation. It is usually caused by the respiratory syncytial virus and affects children. Signs and symptoms include coughing, wheezing, and shortness of breath." [NCIT:P378] synonym: "bronchiolitis" EXACT [MONDO:ambiguous] synonym: "bronchiolitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "RSV bronchiolitis" NARROW [https://github.com/monarch-initiative/mondo/issues/619] synonym: "viral bronchiolitis" NARROW [https://github.com/monarch-initiative/mondo/issues/619] synonym: "wheezy bronchitis" EXACT [NCIT:C39658] xref: DOID:2942 {source="MONDO:equivalentTo"} xref: HP:0011950 {source="MONDO:otherHierarchy"} xref: ICD9:466.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D001988 {source="MONDO:equivalentTo", source="DOID:2942"} xref: NCIT:C39658 {source="MONDO:equivalentTo", source="DOID:2942"} xref: SCTID:4120002 {source="MONDO:equivalentTo", source="DOID:2942"} xref: UMLS:C0006271 {source="MONDO:equivalentTo", source="NCIT:C39658", source="DOID:2942"} is_a: EFO:0003818 {source="DOID:2942", source="MESH:D001988/inferred", source="NCIT:C39658/inferred"} ! lung disease property_value: exactMatch DOID:2942 property_value: exactMatch http://identifiers.org/mesh/D001988 property_value: exactMatch http://identifiers.org/snomedct/4120002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006271 property_value: exactMatch NCIT:C39658 property_value: IAO:0000589 "bronchiolitis (disease)" xsd:string [Term] id: MONDO:0002466 name: eye carcinoma def: "A carcinoma that arises from epithelial cells of the eye" [https://orcid.org/0000-0002-6601-2165] synonym: "carcinoma of eye" EXACT [DOID:295, MONDO:patterns/carcinoma, NCIT:C6079] synonym: "carcinoma of eyeball of camera-type eye" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of the eye" EXACT [NCIT:C6079] synonym: "eye carcinoma" EXACT [MONDO:patterns/location, NCIT:C6079] synonym: "eyeball of camera-type eye carcinoma" EXACT [] synonym: "ocular carcinoma" EXACT [DOID:295, NCIT:C6079] xref: DOID:295 {source="MONDO:equivalentTo"} xref: NCIT:C6079 {source="MONDO:equivalentTo", source="DOID:295", source="MONDO:exact-label-match"} xref: UMLS:C0848866 {source="NCIT:C6079", source="MONDO:equivalentTo", source="DOID:295"} is_a: MONDO:0002038 ! head and neck carcinoma is_a: MONDO:0002236 {source="DOID:295", source="MONDO:Redundant", source="NCIT:C6079"} ! ocular cancer property_value: exactMatch DOID:295 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0848866 property_value: exactMatch NCIT:C6079 [Term] id: MONDO:0002468 name: hyperimmunoglobulin syndrome synonym: "hyperimmunoglobulin syndrome" EXACT [NCIT:C27579] xref: DOID:2959 {source="MONDO:equivalentTo"} xref: NCIT:C27579 {source="MONDO:equivalentTo", source="DOID:2959"} xref: UMLS:C1334069 {source="MONDO:equivalentTo", source="NCIT:C27579", source="DOID:2959"} is_a: MONDO:0002211 {source="DOID:2959"} ! B cell deficiency property_value: exactMatch DOID:2959 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334069 property_value: exactMatch NCIT:C27579 [Term] id: MONDO:0002470 name: photosensitive trichothiodystrophy def: "A trichothiodystrophy that is photosensitive, and caused by defects in the NER pathway" [Wikipedia:Trichothiodystrophy#Photosensitive_forms] subset: gard_rare synonym: "IBIDS syndrome" EXACT [DOID:2960, Orphanet:453] synonym: "Ichtyosis, brittle hair, intellectual impairment, decreased fertility, and short stature" RELATED [GARD:0002944] synonym: "sulfur-deficient brittle hair syndrome" EXACT [DOID:2960] synonym: "Tay syndrome" EXACT [DOID:2960] synonym: "trichothiodystrophy" BROAD [DOID:2960, NCIT:C4924] synonym: "trichothiodystrophy with congenital ichthyosis" BROAD [DOID:2960] synonym: "trichothiodystrophy with congenital ichtyosis" RELATED [GARD:0002944] xref: DOID:2960 {source="MONDO:equivalentTo"} xref: NCIT:C4924 {source="MONDO:relatedTo", source="DOID:2960"} xref: Orphanet:453 {source="MONDO:equivalentObsolete", source="GARD:0002944"} xref: UMLS:C1955934 {source="MONDO:relatedTo", source="DOID:2960"} xref: UMLS:CN205101 {source="MONDO:equivalentTo"} is_a: EFO:0008499 ! DNA repair deficiency is_a: EFO:0009565 ! radiation-induced disorder is_a: MONDO:0018053 ! trichothiodystrophy property_value: exactMatch DOID:2960 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205101 [Term] id: MONDO:0002471 name: bursitis def: "Inflammation or irritation of a synovial bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin." [MESH:D002062] synonym: "adhesive Capsulitides" RELATED [MESH:D002062] synonym: "adhesive Capsulitides, shoulder" RELATED [MESH:D002062] synonym: "adhesive capsulitis" RELATED [MESH:D002062] synonym: "adhesive capsulitis of the shoulder" RELATED [MESH:D002062] synonym: "adhesive capsulitis, shoulder" RELATED [MESH:D002062] synonym: "Bursitides" RELATED [MESH:D002062] synonym: "Capsulitides" RELATED [MESH:D002062] synonym: "Capsulitides, adhesive" RELATED [MESH:D002062] synonym: "Capsulitides, shoulder adhesive" RELATED [MESH:D002062] synonym: "capsulitis" RELATED [MESH:D002062] synonym: "capsulitis, adhesive" RELATED [MESH:D002062] synonym: "capsulitis, shoulder adhesive" RELATED [MESH:D002062] synonym: "frozen shoulder" RELATED [MESH:D002062] synonym: "frozen shoulders" RELATED [MESH:D002062] synonym: "inflammation of synovial bursa" EXACT [] synonym: "shoulder adhesive Capsulitides" RELATED [MESH:D002062] synonym: "shoulder adhesive capsulitis" RELATED [MESH:D002062] synonym: "shoulder, frozen" RELATED [MESH:D002062] synonym: "shoulders, frozen" RELATED [MESH:D002062] synonym: "synovial bursa inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:2965 {source="MONDO:equivalentTo"} xref: ICD9:727.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D002062 {source="MONDO:equivalentTo", source="DOID:2965"} xref: NCIT:C94407 {source="MONDO:equivalentTo", source="DOID:2965"} xref: SCTID:84017003 {source="MONDO:equivalentTo", source="DOID:2965"} xref: UMLS:C0006444 {source="MONDO:equivalentTo", source="NCIT:C94407", source="DOID:2965"} is_a: EFO:0009903 {source="MONDO:Redundant"} ! inflammatory disease is_a: EFO:1000999 {source="DOID:2965", source="MESH:D002062"} ! joint disease is_a: MONDO:0056802 ! synovial bursa disorder property_value: exactMatch DOID:2965 property_value: exactMatch http://identifiers.org/mesh/D002062 property_value: exactMatch http://identifiers.org/snomedct/84017003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006444 property_value: exactMatch NCIT:C94407 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002472 name: carcinoma ex pleomorphic adenoma def: "A carcinoma arising in a pre-existing pleomorphic adenoma. It most often occurs in the parotid gland and less often in the submandibular gland and minor salivary gland. Patients usually present with a history of a long-standing mass which recently had undergone rapid growth. The prognosis depends on the invasiveness of the malignant component. Patients with non-invasive or minimally invasive tumors usually have a good prognosis following surgical resection. Invasive tumors are usually aggressive and are associated with recurrences and metastases." [NCIT:C4397] synonym: "carcinoma ex pleomorphic adenoma" EXACT [NCIT:C4397] synonym: "carcinoma ex pleomorphic adenoma (morphologic abnormality)" EXACT [DOID:297] synonym: "carcinoma in pleomorphic adenoma" EXACT [DOID:297, NCIT:C4397] xref: ICDO:8941/3 {source="NCIT:C4397"} xref: NCIT:C4397 {source="MONDO:equivalentTo", source="DOID:297"} xref: UMLS:C0344460 {source="NCIT:C4397", source="MONDO:equivalentTo", source="DOID:297"} is_a: EFO:0000313 {source="MONDO:Redundant", source="NCIT:C4397", source="NCIT:C4397/inferred"} ! carcinoma is_a: EFO:1000356 {source="NCIT:C4397"} ! Malignant Mixed Neoplasm is_a: MONDO:0002380 ! myoepithelial tumor property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0344460 property_value: exactMatch NCIT:C4397 [Term] id: MONDO:0002474 name: primary hyperoxaluria def: "A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria." [NCIT:P378] subset: ordo_disease {source="Orphanet:416"} synonym: "hyperoxaluria, primary" EXACT [OMIMPS:259900] synonym: "primary hyperoxaluria" EXACT [MONDO:0018478] xref: DOID:2977 {source="MONDO:equivalentTo"} xref: ICD9:271.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10020703 {source="Orphanet:416", source="Orphanet:416/e"} xref: MESH:D006960 {source="MONDO:equivalentTo", source="DOID:2977"} xref: NCIT:C123158 {source="MONDO:equivalentTo", source="DOID:2977"} xref: OMIMPS:259900 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:416 {source="MONDO:equivalentTo"} xref: SCTID:17901006 {source="MONDO:equivalentTo", source="DOID:2977"} xref: UMLS:C0020501 {source="Orphanet:416", source="MONDO:equivalentTo", source="DOID:2977", source="NCIT:C123158"} is_a: MONDO:0019214 {source="DOID:2977"} ! inborn carbohydrate metabolic disorder property_value: closeMatch http://identifiers.org/meddra/10020703 property_value: exactMatch DOID:2977 property_value: exactMatch http://identifiers.org/mesh/D006960 property_value: exactMatch http://identifiers.org/snomedct/17901006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020501 property_value: exactMatch https://omim.org/phenotypicSeries/PS259900 property_value: exactMatch NCIT:C123158 property_value: exactMatch Orphanet:416 property_value: excluded_subClassOf MONDO:0005240 {source="DOID:2977", source="MESH:D006960/inferred", source="MONDO:Redundant"} property_value: excluded_subClassOf MONDO:0017703 {source="Orphanet:416", source="https://github.com/monarch-initiative/mondo/issues/2632"} property_value: excluded_subClassOf MONDO:0019743 {source="Orphanet:416"} [Term] id: MONDO:0002475 name: lacrimal gland adenocarcinoma def: "A carcinoma that arises from glandular epithelial cells of the lacrimal gland" [https://orcid.org/0000-0002-6601-2165] synonym: "adenocarcinoma of lacrimal gland" EXACT [DOID:298, NCIT:C4541] synonym: "adenocarcinoma of the lacrimal gland" EXACT [NCIT:C4541] synonym: "lacrimal gland adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C4541] xref: DOID:298 {source="MONDO:equivalentTo"} xref: NCIT:C4541 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:298"} xref: SCTID:254988008 {source="MONDO:equivalentTo", source="DOID:298"} xref: UMLS:C0346341 {source="MONDO:equivalentTo", source="NCIT:C4541", source="DOID:298"} is_a: EFO:0000228 {source="DOID:298", source="MONDO:Redundant", source="NCIT:C4541"} ! adenocarcinoma is_a: MONDO:0002463 {source="DOID:298", source="MONDO:Redundant", source="NCIT:C4541"} ! lacrimal gland carcinoma property_value: exactMatch DOID:298 property_value: exactMatch http://identifiers.org/snomedct/254988008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346341 property_value: exactMatch NCIT:C4541 [Term] id: MONDO:0002477 name: prostate neuroendocrine neoplasm def: "A neoplasm with neuroendocrine differentiation that arises from the prostate gland. This category includes carcinoid tumors and small cell carcinomas." [NCIT:C5545] synonym: "neuroendocrine neoplasm of prostate" EXACT [NCIT:C5545] synonym: "neuroendocrine neoplasm of prostate gland" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm] synonym: "neuroendocrine neoplasm of the prostate" EXACT [NCIT:C5545] synonym: "neuroendocrine tumor of the prostate" EXACT [DOID:2992, NCIT:C5545] synonym: "neuroendocrine tumour of the prostate" EXACT OMO:0003005 [] synonym: "prostate gland NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "prostate gland neuroendocrine neoplasm" EXACT [MONDO:patterns/location] synonym: "prostate gland neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm] synonym: "prostate gland neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "prostate gland neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "prostate neuroendocrine carcinoma" RELATED [ONCOTREE:PRNE] synonym: "prostate neuroendocrine neoplasm" EXACT [NCIT:C5545] xref: DOID:2992 {source="MONDO:equivalentTo"} xref: NCIT:C5545 {source="DOID:2992", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:PRNE {source="MONDO:equivalentTo"} xref: UMLS:C1335515 {source="DOID:2992", source="MONDO:equivalentTo", source="NCIT:C5545"} is_a: EFO:1001901 {source="DOID:2992", source="MONDO:Redundant", source="NCIT:C5545"} ! neuroendocrine neoplasm is_a: MONDO:0021259 {source="MONDO:Redundant", source="NCIT:C5545", source="ONCOTREE:PRNE"} ! prostate neoplasm property_value: exactMatch DOID:2992 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335515 property_value: exactMatch NCIT:C5545 [Term] id: MONDO:0002480 name: endometrioid tumor def: "A benign, borderline, or malignant epithelial tumor of the female reproductive system characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells." [NCIT:C7113] synonym: "endometrioid neoplasm" EXACT [DOID:3001, NCIT:C7113] synonym: "endometrioid neoplasm of female reproductive system" EXACT [NCIT:C7113] synonym: "endometrioid neoplasm of the female reproductive system" EXACT [NCIT:C7113] synonym: "endometrioid tumor" EXACT [NCIT:C7113] synonym: "endometrioid tumor (morphologic abnormality)" EXACT [DOID:3001] synonym: "endometrioid tumor of female reproductive system" EXACT [NCIT:C7113] synonym: "endometrioid tumor of the female reproductive system" EXACT [NCIT:C7113] synonym: "endometrioid tumour (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "endometrioid tumour of female reproductive system" EXACT OMO:0003005 [] synonym: "endometrioid tumour of the female reproductive system" EXACT OMO:0003005 [] synonym: "female reproductive endometrioid cancer" RELATED [DOID:3001] synonym: "female reproductive endometrioid neoplasm" EXACT [DOID:3001, NCIT:C7113] synonym: "female reproductive endometrioid tumor" EXACT [NCIT:C7113] synonym: "female reproductive endometrioid tumour" EXACT OMO:0003005 [] xref: DOID:3001 {source="MONDO:equivalentTo"} xref: EFO:0009118 {source="MONDO:equivalentTo"} xref: NCIT:C7113 {source="DOID:3001", source="MONDO:equivalentTo"} xref: UMLS:C0474809 {source="DOID:3001", source="NCIT:C7113", source="MONDO:equivalentTo"} is_a: EFO:0006858 {source="NCIT:C7113"} ! epithelial neoplasm is_a: MONDO:0021148 {source="NCIT:C7113"} ! female reproductive system neoplasm property_value: exactMatch DOID:3001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0474809 property_value: exactMatch NCIT:C7113 property_value: excluded_subClassOf MONDO:0001416 {source="DOID:3001"} [Term] id: MONDO:0002481 name: ovarian neuroendocrine neoplasm def: "An epithelial neoplasm with neuroendocrine differentiation that arises from the ovary. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma." [NCIT:C5237] synonym: "neuroendocrine neoplasm of ovary" EXACT [MONDO:patterns/neuroendocrine_neoplasm, NCIT:C5237] synonym: "neuroendocrine neoplasm of the ovary" EXACT [NCIT:C5237] synonym: "neuroendocrine tumor of ovary" EXACT [DOID:3002, NCIT:C5237] synonym: "neuroendocrine tumour of ovary" EXACT OMO:0003005 [] synonym: "ovarian neuroendocrine neoplasm" EXACT [NCIT:C5237] synonym: "ovary NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "ovary neuroendocrine neoplasm" EXACT [MONDO:patterns/location] synonym: "ovary neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm] synonym: "ovary neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "ovary neuroendocrine tumour" EXACT OMO:0003005 [] xref: DOID:3002 {source="MONDO:equivalentTo"} xref: NCIT:C5237 {source="DOID:3002", source="MONDO:equivalentTo"} xref: UMLS:C1335172 {source="DOID:3002", source="MONDO:equivalentTo", source="NCIT:C5237"} is_a: EFO:1001901 {source="DOID:3002", source="MONDO:Redundant", source="NCIT:C5237"} ! neuroendocrine neoplasm is_a: MONDO:0008170 {source="DOID:3002", source="MONDO:Entailed"} ! ovarian cancer is_a: MONDO:0021069 ! malignant endocrine neoplasm property_value: exactMatch DOID:3002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335172 property_value: exactMatch NCIT:C5237 [Term] id: MONDO:0002482 name: nipple neoplasm def: "A benign or malignant neoplasm that arises in the area of the nipple." [NCIT:C5212] synonym: "neoplasm of nipple" EXACT [MONDO:patterns/neoplasm, NCIT:C5212] synonym: "neoplasm of the nipple" EXACT [NCIT:C5212] synonym: "nipple neoplasm" EXACT [NCIT:C5212] synonym: "nipple neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "nipple tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5212] synonym: "nipple tumour" EXACT OMO:0003005 [] synonym: "tumor of nipple" EXACT [DOID:3003, MONDO:patterns/neoplasm, NCIT:C5212] synonym: "tumor of the nipple" EXACT [NCIT:C5212] synonym: "tumour of nipple" EXACT OMO:0003005 [] synonym: "tumour of the nipple" EXACT OMO:0003005 [] xref: DOID:3003 {source="MONDO:equivalentTo"} xref: NCIT:C5212 {source="DOID:3003", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1112166 {source="DOID:3003", source="MONDO:equivalentTo", source="NCIT:C5212"} is_a: EFO:0003869 {source="NCIT:C5212"} ! breast neoplasm property_value: exactMatch DOID:3003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1112166 property_value: exactMatch NCIT:C5212 [Term] id: MONDO:0002486 name: lobular neoplasia def: "A spectrum of non-invasive neoplastic lesions that arise from the terminal ductal lobular units of the breast. There is atypical small epithelial cell proliferation. Pagetoid involvement of the terminal ducts may or may not be present. In the minority of cases, there is a risk for subsequent development of invasive ductal or invasive lobular carcinoma." [NCIT:C27939] synonym: "LIN" EXACT ABBREVIATION [NCIT:C27939] synonym: "LN" EXACT ABBREVIATION [NCIT:C27939] synonym: "lobular intraepithelial neoplasia" EXACT [DOID:3010, NCIT:C27939] synonym: "lobular neoplasia" EXACT [NCIT:C27939] xref: DOID:3010 {source="MONDO:equivalentTo"} xref: NCIT:C27939 {source="MONDO:equivalentTo", source="DOID:3010"} xref: UMLS:C0861352 {source="NCIT:C27939", source="MONDO:equivalentTo", source="DOID:3010"} is_a: MONDO:0004658 {source="DOID:3010"} ! breast carcinoma in situ property_value: exactMatch DOID:3010 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0861352 property_value: exactMatch NCIT:C27939 [Term] id: MONDO:0002488 name: intraductal breast neoplasm def: "A benign or malignant epithelial neoplasm that arises anywhere in the ductal system of the breast. This category includes intraductal papilloma, intraductal papillary carcinoma, ductal hyperplasia with or without atypia, and ductal carcinoma in situ." [NCIT:C36083] synonym: "intraductal breast neoplasm" EXACT [NCIT:C36083] xref: DOID:3013 {source="MONDO:equivalentTo"} xref: NCIT:C36083 {source="DOID:3013", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C0948967 {source="DOID:3013", source="MONDO:equivalentTo", source="NCIT:C36083"} is_a: EFO:0003869 {source="NCIT:C36083"} ! breast neoplasm property_value: exactMatch DOID:3013 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0948967 property_value: exactMatch NCIT:C36083 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002490 name: breast sarcoma def: "A malignant mesenchymal neoplasm that arises from the breast. Representative examples include angiosarcoma, liposarcoma, leiomyosarcoma, rhabdomyosarcoma, and extraskeletal osteosarcoma." [NCIT:C4670] synonym: "breast sarcoma" EXACT [MONDO:patterns/location, NCIT:C4670] synonym: "PBS" RELATED ABBREVIATION [ONCOTREE:PBS] synonym: "sarcoma of breast" EXACT [MONDO:patterns/sarcoma, NCIT:C4670] synonym: "sarcoma of the breast" EXACT [NCIT:C4670] xref: DOID:3017 {source="MONDO:equivalentTo"} xref: NCIT:C4670 {source="MONDO:equivalentTo", source="DOID:3017", source="MONDO:exact-label-match"} xref: ONCOTREE:PBS {source="MONDO:equivalentTo"} xref: SCTID:278050001 {source="MONDO:equivalentTo", source="DOID:3017"} xref: UMLS:C0349667 {source="NCIT:C4670", source="MONDO:equivalentTo", source="DOID:3017"} is_a: EFO:1001968 {source="NCIT:C4670"} ! soft tissue sarcoma is_a: MONDO:0007254 {source="DOID:3017", source="MONDO:Redundant", source="NCIT:C4670"} ! breast cancer property_value: exactMatch DOID:3017 property_value: exactMatch http://identifiers.org/snomedct/278050001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349667 property_value: exactMatch NCIT:C4670 [Term] id: MONDO:0002491 name: substance abuse def: "The use of a drug for a reason other than which it was intended or in a manner or in quantities other than directed." [NCIT:P378] xref: DOID:302 {source="MONDO:equivalentTo"} xref: ICD9:305.90 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:66214007 {source="MONDO:equivalentTo"} is_a: MONDO:0002494 {source="DOID:302"} ! substance-related disorder property_value: exactMatch DOID:302 property_value: exactMatch http://identifiers.org/snomedct/66214007 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002492 name: acute kidney failure def: "Sudden and sustained deterioration of the kidney function characterized by decreased glomerular filtration rate, increased serum creatinine or oliguria." [NCIT:C26808] synonym: "acute kidney injury" EXACT [NCIT:C26808] synonym: "acute renal failure" EXACT [NCIT:C26808] synonym: "AKI" EXACT ABBREVIATION [NCIT:C26808] synonym: "ARF" EXACT ABBREVIATION [NCIT:C26808] synonym: "kidney failure, acute" EXACT [MONDO:patterns/acute] xref: DOID:3021 {source="MONDO:equivalentTo"} xref: ICD10CM:N17 {source="MONDO:equivalentTo"} xref: MESH:D058186 {source="MONDO:equivalentTo"} xref: NCIT:C26808 {source="MONDO:equivalentTo"} is_a: EFO:1002048 {source="DOID:3021", source="MESH:D058186", source="MONDO:Redundant", source="NCIT:C26808"} ! kidney failure is_a: MONDO:0020683 ! acute disease property_value: exactMatch DOID:3021 property_value: exactMatch http://identifiers.org/mesh/D058186 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/N17 property_value: exactMatch NCIT:C26808 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002493 name: prostatic acinar adenocarcinoma def: "An invasive adenocarcinoma of the prostate gland composed of secretory cells. It is the most common histologic type of prostate adenocarcinoma. Several morphologic variants exist, including atrophic, pseudohyperplastic, foamy gland, and oncocytic variants." [NCIT:P378] synonym: "acinar adenocarcinoma of prostate" EXACT [NCIT:C5596] synonym: "acinar adenocarcinoma of the prostate" EXACT [NCIT:C5596] synonym: "acinar prostate adenocarcinoma" EXACT [NCIT:C5596] synonym: "prostate acinar adenocarcinoma" EXACT [NCIT:C5596] synonym: "prostatic acinar adenocarcinoma" EXACT [DOID:3024, NCIT:C5596] xref: DOID:3024 {source="MONDO:equivalentTo"} xref: NCIT:C5596 {source="DOID:3024", source="MONDO:equivalentTo"} xref: UMLS:C1332139 {source="DOID:3024", source="NCIT:C5596", source="MONDO:equivalentTo"} is_a: EFO:0000216 {source="MONDO:Redundant", source="NCIT:C5596"} ! acinar cell carcinoma is_a: EFO:0000673 {source="DOID:3024", source="MONDO:Redundant", source="NCIT:C5596"} ! prostate adenocarcinoma intersection_of: EFO:0000216 {source="NCIT:C5596"} ! acinar cell carcinoma intersection_of: EFO:0000673 {source="NCIT:C5596"} ! prostate adenocarcinoma property_value: exactMatch DOID:3024 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332139 property_value: exactMatch NCIT:C5596 [Term] id: MONDO:0002494 name: substance-related disorder def: "A category of psychiatric disorders which include disorders related to the taking of a drug of abuse (including alcohol, prescribed medications and recreational drugs)." [NCIT:C92203] synonym: "substance induced mood disorders" EXACT [PMID:32310347] synonym: "substance-related disorder" EXACT [NCIT:C92203] xref: DOID:303 {source="MONDO:equivalentTo"} xref: ICD10CM:F10-F19 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: MESH:D019966 {source="DOID:303", source="MONDO:equivalentTo"} xref: NCIT:C92203 {source="DOID:303", source="MONDO:equivalentTo"} is_a: MONDO:0002025 {source="DOID:303", source="MESH:D019966", source="NCIT:C92203"} ! psychiatric disorder property_value: exactMatch DOID:303 property_value: exactMatch http://identifiers.org/mesh/D019966 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/F10-F19 property_value: exactMatch NCIT:C92203 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002497 name: obsolete food allergy property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/498 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5914 xsd:anyURI is_obsolete: true replaced_by: MONDO:0700226 [Term] id: MONDO:0002507 name: gingival overgrowth def: "Excessive growth of the gingiva either by an increase in the size of the constituent cells (gingival hypertrophy) or by an increase in their number (gingival hyperplasia). (From Jablonski's Dictionary of Dentistry, 1992, p574)" [MESH:D019214] synonym: "gingival enlargement" EXACT [DOID:3086] xref: DOID:3086 {source="MONDO:equivalentTo"} xref: ICD9:523.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D019214 {source="MONDO:equivalentTo", source="DOID:3086"} xref: SCTID:54711002 {source="MONDO:equivalentTo", source="DOID:3086"} is_a: EFO:0009670 {source="DOID:3086", source="MESH:D019214"} ! gingival disease property_value: exactMatch DOID:3086 property_value: exactMatch http://identifiers.org/mesh/D019214 property_value: exactMatch http://identifiers.org/snomedct/54711002 [Term] id: MONDO:0002508 name: gingivitis def: "A disorder involving inflammation of the gums; may affect surrounding and supporting structures of the teeth." [NCIT:C34636] synonym: "acute gingivitis" NARROW [DOID:3087] synonym: "chronic gingivitis" NARROW [DOID:3087, ICD9CM:523.1] synonym: "gingiva inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "gingivitis" EXACT [NCIT:C34636] synonym: "inflammation of gingiva" EXACT [] xref: DOID:3087 {source="MONDO:equivalentTo"} xref: ICD9:523.0 {source="DOID:3087"} xref: ICD9:523.1 {source="DOID:3087"} xref: ICD9:523.10 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D005891 {source="MONDO:equivalentTo", source="DOID:3087"} xref: NCIT:C34636 {source="MONDO:equivalentTo", source="DOID:3087"} xref: SCTID:66383009 {source="MONDO:equivalentTo", source="DOID:3087"} xref: UMLS:C0017574 {source="MONDO:equivalentTo", source="DOID:3087", source="NCIT:C34636"} is_a: EFO:0009670 {source="DOID:3087", source="MESH:D005891", source="MONDO:Redundant"} ! gingival disease is_a: EFO:0009688 ! stomatitis property_value: exactMatch DOID:3087 property_value: exactMatch http://identifiers.org/mesh/D005891 property_value: exactMatch http://identifiers.org/snomedct/66383009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017574 property_value: exactMatch NCIT:C34636 [Term] id: MONDO:0002512 name: papillary adenocarcinoma def: "A morphologic variant of adenocarcinoma. It is characterized by the presence of a papillary growth pattern. Representative examples include thyroid gland papillary carcinoma, invasive papillary breast carcinoma, and ovarian serous surface papillary adenocarcinoma." [NCIT:C2853] synonym: "adenocarcinoma, papillary, malignant" EXACT [NCIT:C2853] synonym: "infiltrating and papillary adenocarcinoma" NARROW [DOID:3112] synonym: "infiltrating papillary adenocarcinoma" NARROW [DOID:3112] synonym: "papillary adenocarcinoma" EXACT [DOID:3112, NCIT:C2853] synonym: "papillary adenocarcinoma (morphologic abnormality)" EXACT [DOID:3112] synonym: "papillary adenocarcinoma NOS (morphologic abnormality)" EXACT [DOID:3112] xref: DOID:3112 {source="MONDO:equivalentTo"} xref: ICDO:8260/3 {source="NCIT:C2853"} xref: MESH:D000231 {source="DOID:3112", source="MONDO:equivalentTo"} xref: NCIT:C2853 {source="DOID:3112", source="MONDO:equivalentTo"} xref: UMLS:C0001420 {source="DOID:3112", source="MONDO:equivalentTo", source="NCIT:C2853"} xref: UMLS:C1321863 {source="DOID:3112", source="MONDO:equivalentTo"} is_a: EFO:0000228 {source="DOID:3112", source="MESH:D000231", source="MONDO:Redundant", source="NCIT:C2853"} ! adenocarcinoma is_a: EFO:1000646 {source="MONDO:Redundant", source="NCIT:C2853"} ! papillary carcinoma intersection_of: EFO:0000228 {source="NCIT:C2853"} ! adenocarcinoma intersection_of: EFO:1000646 {source="NCIT:C2853"} ! papillary carcinoma property_value: exactMatch DOID:3112 property_value: exactMatch http://identifiers.org/mesh/D000231 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001420 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1321863 property_value: exactMatch NCIT:C2853 [Term] id: MONDO:0002513 name: kidney benign neoplasm def: "A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis." [NCIT:C4778] synonym: "benign kidney neoplasm" EXACT [NCIT:C4778] synonym: "benign kidney tumor" EXACT [NCIT:C4778] synonym: "benign kidney tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of kidney" EXACT [NCIT:C4778] synonym: "benign neoplasm of the kidney" EXACT [NCIT:C4778] synonym: "benign renal neoplasm" EXACT [NCIT:C4778] synonym: "benign renal tumor" EXACT [NCIT:C4778] synonym: "benign renal tumour" EXACT OMO:0003005 [] synonym: "benign tumor of kidney" EXACT [NCIT:C4778] synonym: "benign tumor of the kidney" EXACT [NCIT:C4778] synonym: "benign tumour of kidney" EXACT OMO:0003005 [] synonym: "benign tumour of the kidney" EXACT OMO:0003005 [] synonym: "kidney benign neoplasm" EXACT [MONDO:patterns/location] synonym: "renal and ureteral tumor" EXACT [DOID:3116, NCIT:C7514] synonym: "renal and ureteral tumour" EXACT OMO:0003005 [] synonym: "renal neoplasm, benign" EXACT [NCIT:C4778] synonym: "renal tumor, benign" EXACT [NCIT:C4778] xref: DOID:3116 {source="MONDO:equivalentTo"} xref: EFO:1000111 {source="MONDO:equivalentTo"} xref: ICD9:223.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C4778 {source="MONDO:equivalentTo"} xref: SCTID:92165001 {source="MONDO:equivalentTo"} is_a: EFO:0003865 {source="MONDO:Redundant", source="NCIT:C4778"} ! kidney neoplasm is_a: MONDO:0004180 {source="DOID:3116", source="MONDO:Redundant", source="NCIT:C4778"} ! benign urinary system neoplasm property_value: exactMatch DOID:3116 property_value: exactMatch http://identifiers.org/snomedct/92165001 property_value: exactMatch NCIT:C4778 [Term] id: MONDO:0002516 name: digestive system cancer def: "A primary or metastatic malignant neoplasm involving any part of the digestive system." [NCIT:C4890] synonym: "cancer of digestive system" EXACT [MONDO:patterns/cancer] synonym: "digestive system cancer" EXACT [DOID:3119, MONDO:patterns/location] synonym: "gastrointestinal system cancer" EXACT [NCIT:C4890] synonym: "gastrointestinal tract cancer" EXACT [DOID:3119, NCIT:C4890] synonym: "GI tumor" BROAD [DOID:3119, NCIT:C3052] synonym: "GI tumour" BROAD OMO:0003005 [] synonym: "malignant digestive system neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4890] synonym: "malignant gastrointestinal neoplasm" EXACT [NCIT:C4890] synonym: "malignant gastrointestinal system neoplasm" EXACT [NCIT:C4890] synonym: "malignant neoplasm of digestive system" EXACT [MONDO:patterns/cancer] xref: DOID:3119 {source="MONDO:equivalentTo"} xref: ICD10CM:C15-C26 {source="MONDO:equivalentTo"} xref: ICD9:239.0 {source="DOID:3119"} xref: NCIT:C4890 {source="MONDO:equivalentTo", source="DOID:3119"} is_a: EFO:0000405 {source="DOID:3119", source="NCIT:C4890/inferred"} ! digestive system disease is_a: EFO:0008549 {source="MONDO:Redundant", source="NCIT:C4890"} ! digestive system neoplasm is_a: MONDO:0004992 {source="DOID:3119", source="DOID:3119/inferred", source="MONDO:Redundant"} ! cancer property_value: exactMatch DOID:3119 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/C15-C26 property_value: exactMatch NCIT:C4890 [Term] id: MONDO:0002520 name: hepatic porphyria def: "A group of metabolic diseases due to deficiency of one of a number of liver enzymes in the biosynthetic pathway of heme. They are characterized by the accumulation and increased excretion of porphyrins or its precursors. Clinical features include neurological symptoms (porphyria, acute intermittent), cutaneous lesions due to photosensitivity (porphyria cutanea tarda), or both (hereditary coproporphyria). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues." [MESH:D017094] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:95157"} synonym: "acute hepatic porphyria" NARROW [NCIT:C133887] synonym: "acute porphyria" RELATED [DOID:3133, GTR:AN0932921] synonym: "ALAD deficiency" EXACT [NCIT:C133887] synonym: "Delta-aminolevulinate dehydratase deficiency" EXACT [NCIT:C133887] synonym: "hepatic porphyria" EXACT [MESH:D017094, MONDO:0019798] synonym: "hepatic Porphyrias" RELATED [MESH:D017094] synonym: "liver porphyria" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "porphobilinogen synthase deficiency" EXACT [NCIT:C133887] synonym: "porphyria of liver" EXACT [MONDO:design_pattern] synonym: "porphyria, hepatic" RELATED [MESH:D017094] xref: DOID:3133 {source="MONDO:equivalentTo"} xref: GTR:AN0932921 xref: MESH:D017094 {source="DOID:3133", source="MONDO:equivalentTo"} xref: Orphanet:95157 {source="MONDO:equivalentTo"} xref: SCTID:55056006 {source="DOID:3133", source="MONDO:equivalentTo"} xref: UMLS:C0162533 {source="DOID:3133", source="MONDO:equivalentTo"} xref: UMLS:CN552491 {source="MONDO:equivalentTo"} is_a: EFO:0001421 {source="MESH:D017094", source="MONDO:Redundant"} ! liver disease is_a: MONDO:0037939 {source="MONDO:Redundant"} ! porphyria property_value: exactMatch DOID:3133 property_value: exactMatch http://identifiers.org/mesh/D017094 property_value: exactMatch http://identifiers.org/snomedct/55056006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162533 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN552491 property_value: exactMatch Orphanet:95157 property_value: excluded_subClassOf MONDO:0016133 {source="Orphanet:95157"} property_value: excluded_subClassOf MONDO:0019142 {source="DOID:3133", source="MESH:D017094", source="Orphanet:95157"} property_value: excluded_subClassOf MONDO:0024255 {source="MESH:D017094"} [Term] id: MONDO:0002523 name: cutaneous mucinosis def: "The mucinoses are a diverse group of disorders which have in common the deposition of basophilic, finely granular and stringy material (mucin) in the connective tissues of the dermis (dermal mucinoses), in the pilosebaceous follicles (follicular mucinoses), or in the epidermis and tumors derived therefrom (epithelial mucinoses)." [ISBN-13:978-0-7020-3485-5] comment: Editor note: consider splitting by location synonym: "mucinoses" RELATED [DOID:3141] synonym: "mucinosis" EXACT [DOID:3141, MESH:D017520] synonym: "mucinosis affecting the skin" EXACT [] xref: DOID:3141 {source="MONDO:equivalentTo"} xref: ICD9:701.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D017520 {source="MONDO:equivalentTo", source="DOID:3141"} xref: SCTID:402721001 {source="MONDO:equivalentTo"} xref: UMLS:C0162855 {source="MONDO:equivalentTo", source="DOID:3141"} is_a: EFO:0000701 ! skin disease property_value: exactMatch DOID:3141 property_value: exactMatch http://identifiers.org/mesh/D017520 property_value: exactMatch http://identifiers.org/snomedct/402721001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162855 property_value: excluded_subClassOf MONDO:0003900 {source="DOID:3141", source="MESH:D017520"} [Term] id: MONDO:0002525 name: inherited lipid metabolism disorder def: "An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production." [NCIT:C97092] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309005"} synonym: "disorder of lipid metabolism" BROAD [MONDO:0017707] synonym: "dyslipidaemia" BROAD OMO:0003005 [] synonym: "dyslipidemia" BROAD [DOID:3146] synonym: "fatty acid metabolism disorder" RELATED [DOID:3146] synonym: "lipid metabolism disorder" BROAD [DOID:3146] xref: DOID:3146 {source="MONDO:equivalentTo"} xref: ICD9:272.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:272.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10061227 {source="Orphanet:309005/e", source="Orphanet:309005"} xref: NCIT:C97092 {source="MONDO:equivalentTo"} xref: Orphanet:309005 {source="MONDO:equivalentTo"} xref: SCTID:267431006 {source="MONDO:equivalentTo"} xref: UMLS:C0154251 {source="NCIT:C97092", source="Orphanet:309005/e", source="MONDO:equivalentTo", source="Orphanet:309005"} is_a: MONDO:0019052 {source="DOID:3146", source="MONDO:Redundant", source="NCIT:C97092", source="Orphanet:309005"} ! inborn errors of metabolism property_value: closeMatch http://identifiers.org/meddra/10061227 property_value: exactMatch DOID:3146 property_value: exactMatch http://identifiers.org/snomedct/267431006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154251 property_value: exactMatch NCIT:C97092 property_value: exactMatch Orphanet:309005 [Term] id: MONDO:0002527 name: keratoacanthoma def: "A dome-shaped, rapidly growing skin lesion composed of well differentiated squamous cells. It represents a proliferation of the infundibular epithelium of the hair follicle and its morphologic distinction from a well differentiated carcinoma may be difficult or impossible. Keratoacanthomas affect males more frequently than females and the majority tend to regress spontaneously. It has been suggested that keratoacanthoma represents a distinct subtype of squamous cell carcinoma of the skin." [NCIT:C3146] comment: Clinically and histologically, it may be confused with a de novo highly malignant squamous cell carcinoma (SCC). However, KA may be viewed as an abortive cancer that only rarely progresses into an aggressive SCC - PMID:8277007. xref: DOID:3149 {source="MONDO:equivalentTo"} xref: ICDO:8071/1 {source="NCIT:C3146"} xref: MESH:D007636 {source="MONDO:equivalentTo", source="DOID:3149"} xref: NCIT:C3146 {source="MONDO:equivalentTo", source="DOID:3149", source="MONDO:exact-label-match"} xref: SCTID:254662007 {source="MONDO:equivalentTo", source="DOID:3149"} xref: UMLS:C0022572 {source="MONDO:equivalentTo", source="DOID:3149", source="NCIT:C3146"} is_a: MONDO:0021634 {source="NCIT:C3146"} ! epithelial skin neoplasm relationship: disease_shares_features_of EFO:0000707 {source="PMID:8277007"} ! squamous cell carcinoma property_value: exactMatch DOID:3149 property_value: exactMatch http://identifiers.org/mesh/D007636 property_value: exactMatch http://identifiers.org/snomedct/254662007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022572 property_value: exactMatch NCIT:C3146 property_value: excluded_subClassOf MONDO:0002529 {source="DOID:3149", source="PMID:8277007"} [Term] id: MONDO:0002528 name: synovium neoplasm def: "A benign or malignant soft tissue neoplasm arising exclusively from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath, localized giant cell tumor of tendon sheath, and malignant giant cell tumor of tendon sheath." [NCIT:P378] synonym: "neoplasm of synovial membrane of synovial joint" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of synovium" EXACT [NCIT:C8964] synonym: "neoplasm of the synovium" EXACT [NCIT:C8964] synonym: "synovial membrane of synovial joint neoplasm" EXACT [] synonym: "synovial membrane of synovial joint neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "synovial membrane of synovial joint tumor" EXACT [MONDO:patterns/neoplasm] synonym: "synovial membrane of synovial joint tumour" EXACT OMO:0003005 [] synonym: "synovial neoplasm" EXACT [NCIT:C8964] synonym: "synovial neoplasm (morphologic abnormality)" EXACT [DOID:315] synonym: "synovial neoplasm NOS (morphologic abnormality)" EXACT [DOID:315] synonym: "synovial tumor" EXACT [NCIT:C8964] synonym: "synovial tumour" EXACT OMO:0003005 [] synonym: "tumor of synovial membrane of synovial joint" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of synovium" EXACT [DOID:315, NCIT:C8964] synonym: "tumor of the synovium" EXACT [NCIT:C8964] synonym: "tumour of synovial membrane of synovial joint" EXACT OMO:0003005 [] synonym: "tumour of synovium" EXACT OMO:0003005 [] synonym: "tumour of the synovium" EXACT OMO:0003005 [] xref: DOID:315 {source="MONDO:equivalentTo"} xref: NCIT:C8964 {source="DOID:315", source="MONDO:equivalentTo"} xref: UMLS:C0476203 {source="DOID:315", source="MONDO:equivalentTo", source="NCIT:C8964"} is_a: EFO:1000541 {source="NCIT:C8964"} ! Soft Tissue Neoplasm is_a: EFO:1000999 ! joint disease is_a: MONDO:0056799 ! synovium disorder property_value: exactMatch DOID:315 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0476203 property_value: exactMatch NCIT:C8964 [Term] id: MONDO:0002529 name: skin squamous cell carcinoma def: "A carcinoma arising from the squamous cells of the epidermis. Skin squamous cell carcinoma is most commonly found on sun-exposed areas. The majority of the tumors are well-differentiated." [NCIT:C4819] synonym: "CSCC" RELATED ABBREVIATION [ONCOTREE:CSCC] synonym: "cutaneous squamous cell carcinoma" EXACT [NCIT:C4819] synonym: "epidermoid carcinoma of skin" EXACT [NCIT:C4819] synonym: "epidermoid carcinoma of the skin" EXACT [NCIT:C4819] synonym: "epidermoid skin carcinoma" EXACT [DOID:3151, NCIT:C4819] synonym: "skin squamous cell cancer" EXACT [NCIT:C4819] synonym: "skin squamous cell carcinoma" EXACT [NCIT:C4819] synonym: "squamous cell carcinoma - skin" EXACT [NCIT:C4819] synonym: "squamous cell carcinoma of skin" EXACT [DOID:3151, NCIT:C4819] synonym: "squamous cell carcinoma of the skin" EXACT [NCIT:C4819] synonym: "squamous cell skin carcinoma" EXACT [NCIT:C4819] synonym: "zone of skin squamous cell carcinoma" EXACT [MONDO:patterns/location] xref: DOID:3151 {source="MONDO:equivalentTo"} xref: EFO:1001927 {source="MONDO:equivalentTo"} xref: NCIT:C4819 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3151"} xref: ONCOTREE:CSCC {source="MONDO:equivalentTo"} xref: SCTID:254651007 {source="MONDO:equivalentTo", source="DOID:3151"} xref: UMLS:C0553723 {source="NCIT:C4819", source="MONDO:equivalentTo", source="DOID:3151"} is_a: EFO:0000707 {source="DOID:3151", source="EFO:1001927", source="MONDO:Redundant", source="NCIT:C4819"} ! squamous cell carcinoma is_a: EFO:0009259 {source="DOID:3151", source="MONDO:Redundant", source="NCIT:C4819"} ! skin carcinoma property_value: exactMatch DOID:3151 property_value: exactMatch http://identifiers.org/snomedct/254651007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0553723 property_value: exactMatch NCIT:C4819 [Term] id: MONDO:0002532 name: squamous cell neoplasm def: "A neoplasm that is composed of squamous epithelial cells. Squamous cell carcinoma is a representative example." [NCIT:C3792] synonym: "epidermoid cell neoplasm" EXACT [NCIT:C3792] synonym: "epidermoid cell tumor" EXACT [DOID:3168, NCIT:C3792] synonym: "epidermoid cell tumour" EXACT OMO:0003005 [] synonym: "squamous cell neoplasm" EXACT [NCIT:C3792] synonym: "squamous cell tumor" EXACT [NCIT:C3792] synonym: "squamous cell tumor (qualifier value)" EXACT [DOID:3168] synonym: "squamous cell tumour" EXACT OMO:0003005 [] synonym: "squamous cell tumour (qualifier value)" EXACT OMO:0003005 [] xref: DOID:3168 {source="MONDO:equivalentTo"} xref: MESH:D018307 {source="DOID:3168", source="MONDO:equivalentTo"} xref: NCIT:C3792 {source="DOID:3168", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C0206720 {source="DOID:3168", source="NCIT:C3792", source="MONDO:equivalentTo"} is_a: EFO:0006858 {source="MESH:D018307", source="NCIT:C3792"} ! epithelial neoplasm property_value: exactMatch DOID:3168 property_value: exactMatch http://identifiers.org/mesh/D018307 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206720 property_value: exactMatch NCIT:C3792 [Term] id: MONDO:0002533 name: papillary adenoma def: "An adenoma characterized by the presence of papillary epithelial patterns." [NCIT:C79951] synonym: "adenoma, papillary, benign" EXACT [NCIT:C79951] synonym: "glandular papilloma" RELATED [DOID:3172, NCIT:C6880] synonym: "papillary adenoma" EXACT [NCIT:C79951] synonym: "papillary adenoma NOS (morphologic abnormality)" EXACT [DOID:3172] xref: DOID:3172 {source="MONDO:equivalentTo"} xref: NCIT:C79951 {source="MONDO:equivalentTo", source="DOID:3172"} xref: UMLS:C0205650 {source="MONDO:equivalentTo", source="DOID:3172"} is_a: EFO:0000232 {source="MONDO:Redundant", source="NCIT:C79951"} ! adenoma is_a: MONDO:0021096 {source="MONDO:Redundant", source="NCIT:C79951"} ! papillary epithelial neoplasm intersection_of: EFO:0000232 {source="NCIT:C79951"} ! adenoma intersection_of: MONDO:0021096 {source="NCIT:C79951"} ! papillary epithelial neoplasm property_value: exactMatch DOID:3172 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205650 property_value: exactMatch NCIT:C79951 property_value: excluded_subClassOf MONDO:0002363 {source="DOID:3172"} [Term] id: MONDO:0002537 name: inverted papilloma def: "An endophytic benign papillary epithelial neoplasm that results from the invagination and proliferation of epithelial cells in the underlying stroma. Representative examples are the inverted urothelial papilloma that arises from the urinary tract and inverted Schneiderian papilloma that arises from the nasal cavity or paranasal sinuses." [NCIT:C3793] synonym: "inverted papilloma" EXACT [DOID:3179, NCIT:C3793] synonym: "inverted papilloma, squamous cell" EXACT [DOID:3179] xref: DOID:3179 {source="MONDO:equivalentTo"} xref: ICD9:212.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D018308 {source="DOID:3179", source="MONDO:equivalentTo"} xref: NCIT:C3793 {source="DOID:3179", source="MONDO:equivalentTo"} xref: SCTID:104081000119103 {source="DOID:3179", source="MONDO:equivalentTo"} xref: UMLS:C0206721 {source="DOID:3179", source="MONDO:equivalentTo", source="NCIT:C3793"} is_a: MONDO:0002363 {source="DOID:3179", source="MESH:D018308", source="NCIT:C3793"} ! papilloma property_value: exactMatch DOID:3179 property_value: exactMatch http://identifiers.org/mesh/D018308 property_value: exactMatch http://identifiers.org/snomedct/104081000119103 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206721 property_value: exactMatch NCIT:C3793 [Term] id: MONDO:0002542 name: spinal cord glioma def: "A neoplasm that arises from glial cells in the spinal cord. Representative examples include astrocytoma, oligodendroglioma, and ependymoma." [NCIT:C4534] synonym: "glial neoplasm spinal cord" EXACT [DOID:3185, NCIT:C4534] synonym: "glial tumor of spinal cord" EXACT [NCIT:C4534] synonym: "glial tumour of spinal cord" EXACT OMO:0003005 [] synonym: "glioma of spinal cord" EXACT [DOID:3185] synonym: "malignant glioma of spinal cord" EXACT [MONDO:design_pattern] synonym: "spinal cord glial neoplasm" EXACT [NCIT:C4534] synonym: "spinal cord glial tumor" EXACT [NCIT:C4534] synonym: "spinal cord glial tumour" EXACT OMO:0003005 [] synonym: "spinal cord glioma" EXACT [NCIT:C4534] synonym: "spinal cord malignant glioma" EXACT [MONDO:patterns/location] xref: DOID:3185 {source="MONDO:equivalentTo"} xref: NCIT:C4534 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3185"} xref: SCTID:254946004 {source="MONDO:equivalentTo"} xref: UMLS:C2937245 {source="MONDO:equivalentTo"} is_a: MONDO:0003544 {source="DOID:3185", source="MONDO:Entailed", source="MONDO:Redundant"} ! spinal cord cancer is_a: MONDO:0100342 {source="DOID:3185", source="MONDO:Redundant"} ! malignant glioma property_value: exactMatch DOID:3185 property_value: exactMatch http://identifiers.org/snomedct/254946004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2937245 property_value: exactMatch NCIT:C4534 [Term] id: MONDO:0002547 name: nerve sheath neoplasm def: "A benign or malignant neoplasm arising from the perineural cells in the sheaths surrounding the nerves. Representative examples include neurofibroma, schwannoma, and malignant peripheral nerve sheath tumor." [NCIT:C4972] synonym: "neoplasm of nerve sheath" EXACT [NCIT:C4972] synonym: "neoplasm of the nerve sheath" EXACT [DOID:3193, NCIT:C4972] synonym: "nerve sheath neoplasm" EXACT [NCIT:C4972] synonym: "nerve sheath tumor" EXACT [DOID:3193, NCIT:C4972] synonym: "nerve sheath tumour" EXACT OMO:0003005 [] synonym: "peripheral nerve sheath neoplasm" EXACT [] synonym: "tumor of nerve sheath" EXACT [NCIT:C4972] synonym: "tumour of nerve sheath" EXACT OMO:0003005 [] xref: DOID:3193 {source="MONDO:equivalentTo"} xref: MESH:D018317 {source="MONDO:equivalentTo", source="DOID:3193"} xref: NCIT:C4972 {source="MONDO:equivalentTo"} xref: ONCOTREE:NST {source="MONDO:equivalentTo"} is_a: EFO:0002431 {source="DOID:3193", source="MESH:D018317", source="ONCOTREE:NST"} ! tumour of cranial and spinal nerves is_a: EFO:0005543 ! glioma property_value: exactMatch DOID:3193 property_value: exactMatch http://identifiers.org/mesh/D018317 property_value: exactMatch NCIT:C4972 [Term] id: MONDO:0002548 name: cellular schwannoma def: "A morphologic variant of schwannoma characterized by hypercellularity, Antoni A pattern, and the absence of well-formed Verocay bodies." [NCIT:C4724] synonym: "cellular neurilemmoma" EXACT [NCIT:C4724] synonym: "cellular neurinoma" EXACT [DOID:3196, NCIT:C4724] synonym: "cellular schwannoma" EXACT [NCIT:C4724] synonym: "CSCHW" RELATED ABBREVIATION [ONCOTREE:CSCHW] xref: DOID:3196 {source="MONDO:equivalentTo"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4724 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3196"} xref: ONCOTREE:CSCHW {source="MONDO:equivalentTo"} xref: SCTID:404026003 {source="MONDO:equivalentTo", source="DOID:3196"} xref: UMLS:C0431124 {source="MONDO:equivalentTo", source="NCIT:C4724", source="DOID:3196"} is_a: EFO:0000693 {source="DOID:3196", source="NCIT:C4724", source="ONCOTREE:CSCHW"} ! schwannoma property_value: exactMatch DOID:3196 property_value: exactMatch http://identifiers.org/snomedct/404026003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431124 property_value: exactMatch NCIT:C4724 [Term] id: MONDO:0002558 name: melanotic neurilemmoma def: "A rare circumscribed, non-encapsulated and grossly pigmented nerve sheath tumor. It is composed of cells with the immunophenotypic and electron microscopic features of Schwann cells which contain melanosomes and are positive for melanoma markers. It usually involves spinal nerve roots but may occur in other locations. It may be associated with PRKAR1A gene mutation and Carney complex. Malignant behavior has been reported in a significant number of patients." [NCIT:P378] synonym: "melanocytic neurilemmoma" EXACT [NCIT:C6970] synonym: "melanocytic schwannoma" EXACT [NCIT:C6970] synonym: "melanotic neurinoma" EXACT [NCIT:C6970] synonym: "melanotic schwannoma" EXACT [NCIT:C6970] synonym: "melanotic schwannoma (morphologic abnormality)" EXACT [DOID:3205] synonym: "MSCHW" RELATED ABBREVIATION [ONCOTREE:MSCHW] synonym: "pigmented neurilemmoma" EXACT [DOID:3205, NCIT:C6970] synonym: "pigmented schwannoma" EXACT [DOID:3205] xref: DOID:3205 {source="MONDO:equivalentTo"} xref: ICD9:215.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C6970 {source="DOID:3205", source="MONDO:equivalentTo"} xref: ONCOTREE:MSCHW {source="MONDO:equivalentTo"} xref: SCTID:404024000 {source="DOID:3205", source="MONDO:equivalentTo"} xref: UMLS:C1306247 {source="NCIT:C6970", source="DOID:3205", source="MONDO:equivalentTo"} is_a: EFO:0000693 {source="DOID:3205", source="ONCOTREE:MSCHW"} ! schwannoma property_value: exactMatch DOID:3205 property_value: exactMatch http://identifiers.org/snomedct/404024000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1306247 property_value: exactMatch NCIT:C6970 [Term] id: MONDO:0002561 name: lysosomal storage disease def: "A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins." [PMID:21723623] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:68366"} synonym: "disorder of lysosomal enzyme" EXACT [DOID:3211] synonym: "disorder of lysosomal enzymes" EXACT [NCIT:C61250] synonym: "inborn lysosomal enzyme disorder" EXACT [DOID:3211] synonym: "lysosomal disease" EXACT [MONDO:0019051] synonym: "lysosomal disorder" EXACT [] synonym: "lysosomal storage disorder" EXACT [NCIT:C61250] synonym: "lysosomal storage metabolism disorder" EXACT [DOID:3211] synonym: "lysosome disease" EXACT [] synonym: "lysosome disorder" EXACT [] synonym: "phospholipidosis" RELATED [NCIT:C61250] xref: DOID:3211 {source="MONDO:equivalentTo"} xref: MESH:D016464 {source="DOID:3211", source="MONDO:equivalentTo"} xref: NCIT:C61250 {source="DOID:3211", source="MONDO:equivalentTo"} xref: Orphanet:68366 {source="MONDO:equivalentTo"} xref: SCTID:23585005 {source="DOID:3211", source="MONDO:equivalentTo"} xref: UMLS:C0085078 {source="DOID:3211", source="MONDO:equivalentTo", source="NCIT:C61250"} xref: UMLS:CN205533 {source="MONDO:equivalentTo"} is_a: MONDO:0019052 {source="DOID:3211", source="MESH:D016464", source="MONDO:Entailed", source="NCIT:C61250", source="Orphanet:68366"} ! inborn errors of metabolism property_value: exactMatch DOID:3211 property_value: exactMatch http://identifiers.org/mesh/D016464 property_value: exactMatch http://identifiers.org/snomedct/23585005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085078 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205533 property_value: exactMatch NCIT:C61250 property_value: exactMatch Orphanet:68366 [Term] id: MONDO:0002562 name: demyelinating disease def: "A broad group of disorders that affect the myelin sheaths that cover the neurons. Myelin sheathes cover neuronal axons in the central and peripheral nervous system and function to increase traveling impulse speeds. Disruption of this sheath impairs neuronal transmission and can result in disorders such as multiple sclerosis and Guillain-Barre syndrome, among others." [NCIT:P378] synonym: "demyelinating disorder" EXACT [DOID:3213, NCIT:C34527] xref: DOID:3213 {source="MONDO:equivalentTo"} xref: MESH:D003711 {source="DOID:3213", source="MONDO:equivalentTo"} xref: NCIT:C34527 {source="DOID:3213", source="MONDO:equivalentTo"} xref: UMLS:C0011303 {source="DOID:3213", source="MONDO:equivalentTo", source="NCIT:C34527"} is_a: EFO:0005772 {source="DOID:3213", source="MONDO:Redundant", source="NCIT:C34527"} ! neurodegenerative disease is_a: MONDO:0021147 ! disorder of development or morphogenesis property_value: exactMatch DOID:3213 property_value: exactMatch http://identifiers.org/mesh/D003711 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011303 property_value: exactMatch NCIT:C34527 [Term] id: MONDO:0002564 name: jejunal neoplasm def: "A benign or malignant neoplasm that affects the wall of the jejunum. Representative examples include adenoma, carcinoma, and lymphoma." [NCIT:P378] synonym: "jejunal tumor" EXACT [DOID:3218, NCIT:C8401] synonym: "jejunal tumour" EXACT OMO:0003005 [] synonym: "jejunum neoplasm" EXACT [] synonym: "jejunum neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "jejunum tumor" EXACT [MONDO:patterns/neoplasm] synonym: "jejunum tumour" EXACT OMO:0003005 [] synonym: "neoplasm of jejunum" EXACT [DOID:3218, MONDO:patterns/neoplasm] synonym: "neoplasm of the jejunum" EXACT [NCIT:C8401] synonym: "tumor of jejunum" EXACT [DOID:3218, MONDO:patterns/neoplasm] synonym: "tumor of the jejunum" EXACT [NCIT:C8401] synonym: "tumour of jejunum" EXACT OMO:0003005 [] synonym: "tumour of the jejunum" EXACT OMO:0003005 [] xref: DOID:3218 {source="MONDO:equivalentTo"} xref: MESH:D007580 {source="MONDO:equivalentTo", source="DOID:3218"} xref: NCIT:C8401 {source="MONDO:equivalentTo", source="DOID:3218"} xref: SCTID:126834003 {source="MONDO:equivalentTo", source="DOID:3218"} xref: UMLS:C0022374 {source="NCIT:C8401", source="MONDO:equivalentTo", source="DOID:3218"} is_a: MONDO:0004251 {source="DOID:3218", source="MONDO:Redundant", source="NCIT:C8401"} ! small intestine neoplasm property_value: exactMatch DOID:3218 property_value: exactMatch http://identifiers.org/mesh/D007580 property_value: exactMatch http://identifiers.org/snomedct/126834003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022374 property_value: exactMatch NCIT:C8401 [Term] id: MONDO:0002567 name: tracheal disorder def: "A non-neoplastic or neoplastic disorder that affects the trachea. Representative examples of non-neoplastic disorders include congenital malformations and infection. Representative examples of neoplastic disorders include carcinoma and lymphoma." [NCIT:P378] synonym: "disease of trachea" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of trachea" EXACT [] synonym: "disorder of trachea" EXACT [MONDO:patterns/location_top, NCIT:C35079] synonym: "trachea disease" EXACT [MONDO:patterns/location] synonym: "trachea disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "tracheal disorder" EXACT [NCIT:C35079] xref: DOID:3225 {source="MONDO:equivalentTo"} xref: MESH:D014133 {source="DOID:3225", source="MONDO:equivalentTo"} xref: NCIT:C35079 {source="DOID:3225", source="MONDO:equivalentTo"} xref: SCTID:47125007 {source="DOID:3225", source="MONDO:equivalentTo"} xref: UMLS:C0040580 {source="DOID:3225", source="MONDO:equivalentTo", source="NCIT:C35079"} is_a: EFO:0009433 ! lower respiratory tract disease is_a: MONDO:0004867 {source="DOID:3225"} ! upper respiratory tract disorder property_value: exactMatch DOID:3225 property_value: exactMatch http://identifiers.org/mesh/D014133 property_value: exactMatch http://identifiers.org/snomedct/47125007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040580 property_value: exactMatch NCIT:C35079 [Term] id: MONDO:0002579 name: orbit embryonal rhabdomyosarcoma def: "A malignant mesenchymal neoplasm that arises from the orbit. It is characterized by the presence of skeletal muscle tissue exhibiting embryonic features." [NCIT:P378] synonym: "embryonal rhabdomyosarcoma of orbit" EXACT [NCIT:C6246] synonym: "embryonal rhabdomyosarcoma of the orbit" EXACT [DOID:3258, NCIT:C6246] xref: DOID:3258 {source="MONDO:equivalentTo"} xref: NCIT:C6246 {source="DOID:3258", source="MONDO:equivalentTo"} xref: UMLS:C1335127 {source="DOID:3258", source="MONDO:equivalentTo", source="NCIT:C6246"} is_a: EFO:0000437 {source="MONDO:Redundant", source="NCIT:C6246"} ! embryonal rhabdomyosarcoma is_a: MONDO:0002580 {source="DOID:3258", source="MONDO:Redundant", source="NCIT:C6246"} ! orbit rhabdomyosarcoma intersection_of: EFO:0000437 {source="NCIT:C6246"} ! embryonal rhabdomyosarcoma intersection_of: MONDO:0002580 {source="NCIT:C6246"} ! orbit rhabdomyosarcoma property_value: exactMatch DOID:3258 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335127 property_value: exactMatch NCIT:C6246 [Term] id: MONDO:0002580 name: orbit rhabdomyosarcoma def: "A malignant mesenchymal neoplasm with skeletal muscle differentiation that arises from the orbit." [NCIT:P378] synonym: "orbital region rhabdomyosarcoma" EXACT [] synonym: "orbital region rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location] synonym: "rhabdomyosarcoma (disease) of orbital region" EXACT [] synonym: "rhabdomyosarcoma of orbit" EXACT [NCIT:C4543] synonym: "rhabdomyosarcoma of the orbit" EXACT [DOID:3259, NCIT:C4543] xref: DOID:3259 {source="MONDO:equivalentTo"} xref: MESH:C537605 {source="MONDO:equivalentTo", source="DOID:3259"} xref: NCIT:C4543 {source="MONDO:equivalentTo", source="DOID:3259"} xref: SCTID:254994000 {source="MONDO:equivalentTo", source="DOID:3259"} xref: UMLS:C0346347 {source="MONDO:equivalentTo", source="DOID:3259", source="NCIT:C4543"} is_a: EFO:0002918 ! rhabdomyosarcoma is_a: MONDO:0004943 {source="DOID:3259", source="NCIT:C4543"} ! orbit sarcoma property_value: exactMatch DOID:3259 property_value: exactMatch http://identifiers.org/mesh/C537605 property_value: exactMatch http://identifiers.org/snomedct/254994000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346347 property_value: exactMatch NCIT:C4543 [Term] id: MONDO:0002586 name: thymus cancer def: "A primary or metastatic malignant neoplasm involving the thymus. This category includes malignant thymomas, thymic lymphomas, primary thymic carcinomas, and metastatic carcinomas from other anatomic sites." [NCIT:C4962] synonym: "cancer of the Thymus" EXACT [NCIT:C4962] synonym: "cancer of Thymus" EXACT [NCIT:C4962] synonym: "cancer of thymus" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the Thymus" EXACT [NCIT:C4962] synonym: "malignant neoplasm of Thymus" EXACT [NCIT:C4962] synonym: "malignant neoplasm of thymus" EXACT [MONDO:patterns/cancer] synonym: "malignant Thymus neoplasm" EXACT [NCIT:C4962] synonym: "malignant thymus neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant Thymus tumor" EXACT [NCIT:C4962] synonym: "malignant Thymus tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of the Thymus" EXACT [NCIT:C4962] synonym: "malignant tumor of Thymus" EXACT [NCIT:C4962] synonym: "malignant tumour of the Thymus" EXACT OMO:0003005 [] synonym: "malignant tumour of Thymus" EXACT OMO:0003005 [] synonym: "thymic neoplasm" BROAD [DOID:3277] synonym: "thymic tumor" BROAD [DOID:3277, NCIT:C3412] synonym: "thymic tumour" BROAD OMO:0003005 [] synonym: "Thymus cancer" EXACT [NCIT:C4962] synonym: "thymus cancer" EXACT [MONDO:patterns/location] xref: DOID:3277 {source="MONDO:equivalentTo"} xref: ICD9:164.0 {source="DOID:3277", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C4962 {source="DOID:3277", source="MONDO:equivalentTo"} xref: SCTID:363434003 {source="DOID:3277", source="MONDO:equivalentTo"} xref: UMLS:C0751552 {source="DOID:3277", source="MONDO:equivalentTo", source="NCIT:C4962"} is_a: EFO:0002626 {source="MONDO:Redundant", source="NCIT:C4962"} ! thymus neoplasm is_a: MONDO:0000621 ! immune system cancer is_a: MONDO:0021069 ! malignant endocrine neoplasm property_value: exactMatch DOID:3277 property_value: exactMatch http://identifiers.org/snomedct/363434003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751552 property_value: exactMatch NCIT:C4962 [Term] id: MONDO:0002588 name: thymoma type A def: "A thymic epithelial neoplasm characterized by the presence of spindle and/or oval neoplastic epithelial cells. Lymphocytic infiltration is minimal or absent. It may be associated with myasthenia gravis or pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. Approximately 20% of the cases occur as stage II or stage III tumors. Type A thymoma generally behaves as a benign tumor and the overall survival is reported to be 100% at 5 and 10 years." [NCIT:C6454] subset: ordo_histopathological_subtype {source="Orphanet:263310"} synonym: "medullary thymoma" EXACT [DOID:3279, NCIT:C6454] synonym: "primary thymic epithelial neoplasm type A" EXACT [Orphanet:263310] synonym: "primary thymic epithelial tumor type A" EXACT [Orphanet:263310] synonym: "primary thymic epithelial tumour type A" EXACT OMO:0003005 [] synonym: "spindle cell thymoma" EXACT [NCIT:C6454] synonym: "thymoma type A" EXACT [MONDO:0016973, NCIT:C6454] synonym: "thymoma, medullary" EXACT [DOID:3279] xref: DOID:3279 {source="MONDO:equivalentTo"} xref: ICD10CM:D15.0 {source="Orphanet:263310/ntbt", source="MONDO:relatedTo", source="Orphanet:263310"} xref: ICDO:8581/1 {source="NCIT:C6454"} xref: NCIT:C6454 {source="DOID:3279", source="MONDO:equivalentTo"} xref: Orphanet:263310 {source="MONDO:equivalentTo"} xref: UMLS:C1266091 {source="NCIT:C6454", source="Orphanet:263310", source="DOID:3279", source="MONDO:equivalentTo", source="Orphanet:263310/e"} is_a: EFO:1000581 {source="DOID:3279", source="NCIT:C6454", source="Orphanet:263310"} ! Thymoma property_value: exactMatch DOID:3279 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266091 property_value: exactMatch NCIT:C6454 property_value: exactMatch Orphanet:263310 [Term] id: MONDO:0002597 name: notochordal tumor def: "A bone tumor arising from the remnants of the fetal notochord. This category includes the chordoma and benign notochordal cell tumor." [NCIT:C7063] synonym: "cancer of notochord" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of notochord" EXACT [MONDO:patterns/cancer] synonym: "malignant notochord neoplasm" EXACT [MONDO:patterns/cancer] synonym: "neoplasm of notochord" EXACT [MONDO:patterns/neoplasm] synonym: "notochord cancer" EXACT [MONDO:patterns/location] synonym: "notochord neoplasm" EXACT [] synonym: "notochord tumor" EXACT [MONDO:patterns/neoplasm] synonym: "notochord tumour" EXACT OMO:0003005 [] synonym: "notochordal cancer" RELATED [DOID:3303] synonym: "notochordal neoplasm" EXACT [NCIT:C7063] synonym: "notochordal tumor" EXACT [DOID:3303, NCIT:C7063] synonym: "tumor of notochord" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of notochord" EXACT OMO:0003005 [] xref: DOID:3303 {source="MONDO:equivalentTo"} xref: NCIT:C7063 {source="MONDO:equivalentTo", source="DOID:3303"} xref: UMLS:C1335069 {source="MONDO:equivalentTo", source="DOID:3303", source="NCIT:C7063"} is_a: EFO:0003820 {source="NCIT:C7063"} ! bone neoplasm is_a: EFO:0005784 {source="NCIT:C7063"} ! embryonal neoplasm property_value: exactMatch DOID:3303 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335069 property_value: exactMatch NCIT:C7063 property_value: excluded_subClassOf MONDO:0002129 {source="DOID:3303"} [Term] id: MONDO:0002598 name: germinoma def: "A malignant germ cell tumor arising in the central nervous system. It is characterized by the presence of primitive, large malignant germ cells and lymphocytes." [NCIT:P378] synonym: "germinoma" EXACT [MONDO:ambiguous, NCIT:C3753] synonym: "germinoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:3304 {source="MONDO:equivalentTo"} xref: HP:0100620 {source="MONDO:otherHierarchy"} xref: ICDO:9064/3 {source="NCIT:C3753"} xref: MESH:D018237 {source="DOID:3304", source="MONDO:equivalentTo"} xref: NCIT:C3753 {source="MONDO:equivalentObsolete", source="DOID:3304"} xref: ONCOTREE:GMN {source="MONDO:equivalentTo"} xref: UMLS:C0206660 {source="DOID:3304", source="MONDO:equivalentTo", source="NCIT:C3753"} is_a: EFO:1000352 {source="NCIT:C3753"} ! Malignant Germ Cell Tumor property_value: exactMatch DOID:3304 property_value: exactMatch http://identifiers.org/mesh/D018237 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206660 property_value: IAO:0000589 "germinoma (disease)" xsd:string [Term] id: MONDO:0002601 name: teratoma def: "A non-seminomatous germ cell tumor characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). It occurs in the testis, ovary, and extragonadal sites including central nervous system, mediastinum, lung, and stomach. According to the level of differentiation of the tissues which comprise the tumor, teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal-type tissues. Testicular teratomas in children follow a benign clinical course. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor." [NCIT:C3403] synonym: "teratoma" EXACT [NCIT:C3403] xref: DOID:3307 {source="MONDO:equivalentTo"} xref: ICDO:9080/1 {source="NCIT:C3403"} xref: MESH:D013724 {source="MONDO:equivalentTo", source="DOID:3307"} xref: NCIT:C3403 {source="MONDO:equivalentTo", source="DOID:3307"} xref: ONCOTREE:TT {source="MONDO:equivalentTo"} xref: SCTID:36591000119102 {source="MONDO:equivalentTo"} is_a: MONDO:0021656 {source="NCIT:C3403", source="ONCOTREE:TT"} ! nongerminomatous germ cell tumor relationship: has_characteristic MONDO:0021136 {source="MONDO:0018080"} ! rare property_value: exactMatch DOID:3307 property_value: exactMatch http://identifiers.org/mesh/D013724 property_value: exactMatch http://identifiers.org/snomedct/36591000119102 property_value: exactMatch NCIT:C3403 property_value: excluded_subClassOf MONDO:0002510 {source="DOID:3307", source="MESH:D013724"} [Term] id: MONDO:0002603 name: angiomyolipoma def: "A neoplasm with perivascular epithelioid cell differentiation often associated with tuberous sclerosis. It is characterized by a mixture of epithelioid cells, smooth muscle, vessels, and mature adipose tissue. The kidney is the most common site of involvement. Other sites of involvement include the liver, lung, lymph nodes, and retroperitoneum. The vast majority of cases follow a benign clinical course. However, cases of metastatic angiomyolipomas with sarcomatoid features have been described." [NCIT:P378] synonym: "angiomyolipoma (morphologic abnormality)" EXACT [DOID:3314] xref: DOID:3314 {source="MONDO:equivalentTo"} xref: ICDO:8860/0 {source="NCIT:C3734"} xref: MESH:D018207 {source="MONDO:equivalentTo", source="DOID:3314"} xref: NCIT:C3734 {source="MONDO:equivalentTo", source="DOID:3314"} xref: UMLS:C0206633 {source="MONDO:equivalentTo", source="DOID:3314", source="NCIT:C3734"} is_a: EFO:1000464 {source="MESH:D018207", source="NCIT:C3734"} ! PEComa property_value: exactMatch DOID:3314 property_value: exactMatch http://identifiers.org/mesh/D018207 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206633 property_value: exactMatch NCIT:C3734 [Term] id: MONDO:0002604 name: pericytic neoplasm def: "A benign or malignant mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels." [NCIT:C6528] synonym: "malignant perivascular cancer" NARROW [DOID:3316] synonym: "Pericytic neoplasm" EXACT [NCIT:C6528] synonym: "Pericytic tumor" EXACT [NCIT:C6528] synonym: "Pericytic tumour" EXACT OMO:0003005 [] synonym: "perivascular neoplasm" EXACT [NCIT:C6528] synonym: "perivascular tumor" EXACT [NCIT:C6528] synonym: "perivascular tumour" EXACT OMO:0003005 [] xref: DOID:3316 {source="MONDO:equivalentTo"} xref: NCIT:C6528 {source="MONDO:equivalentTo", source="DOID:3316"} xref: UMLS:C1335392 {source="MONDO:equivalentTo", source="DOID:3316", source="NCIT:C6528"} is_a: MONDO:0002616 {source="MONDO:Redundant", source="NCIT:C6528"} ! mesenchymal cell neoplasm property_value: exactMatch DOID:3316 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335392 property_value: exactMatch NCIT:C6528 [Term] id: MONDO:0002605 name: hepatic angiomyolipoma def: "An angiomyolipoma arising from the liver." [NCIT:P378] synonym: "liver angiomyolipoma" EXACT [NCIT:C27485] synonym: "liver PEComa" EXACT [NCIT:C27485] xref: DOID:3317 {source="MONDO:equivalentTo"} xref: NCIT:C27485 {source="MONDO:equivalentTo", source="DOID:3317"} xref: UMLS:C1333962 {source="NCIT:C27485", source="MONDO:equivalentTo", source="DOID:3317"} is_a: MONDO:0002603 {source="MONDO:Redundant", source="NCIT:C27485"} ! angiomyolipoma is_a: MONDO:0024477 {source="DOID:3317", source="MONDO:Redundant"} ! liver and intrahepatic bile duct neoplasm property_value: exactMatch DOID:3317 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333962 property_value: exactMatch NCIT:C27485 [Term] id: MONDO:0002606 name: epithelioid type angiomyolipoma def: "An angiomyolipoma composed exclusively or predominantly by polygonal epithelioid cells with eosinophilic cytoplasm, often associated with cytologic atypia." [NCIT:P378] xref: DOID:3318 {source="MONDO:equivalentTo"} xref: NCIT:C38151 {source="MONDO:equivalentTo", source="DOID:3318"} xref: UMLS:C1333426 {source="MONDO:equivalentObsolete", source="DOID:3318", source="NCIT:C38151"} is_a: MONDO:0002603 {source="DOID:3318", source="NCIT:C38151"} ! angiomyolipoma property_value: exactMatch DOID:3318 property_value: exactMatch NCIT:C38151 [Term] id: MONDO:0002610 name: purpura def: "A small blood vessel hemorrhage into the skin and/or mucous membranes. Newer lesions appear reddish in color. Older lesions are usually a darker purple color and eventually become a brownish-yellow color." [NCIT:P378] synonym: "purpura" EXACT [MONDO:ambiguous] synonym: "purpura (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "purpuric disorder" EXACT [DOID:3326] xref: DOID:3326 {source="MONDO:equivalentTo"} xref: HP:0000979 {source="MONDO:otherHierarchy"} xref: MESH:D011693 {source="DOID:3326", source="MONDO:equivalentTo"} xref: SCTID:387778001 {source="DOID:3326", source="MONDO:equivalentTo"} xref: UMLS:C0034150 {source="DOID:3326", source="MONDO:equivalentTo"} is_a: MONDO:0002243 {source="DOID:3326"} ! hemorrhagic disease property_value: exactMatch DOID:3326 property_value: exactMatch http://identifiers.org/mesh/D011693 property_value: exactMatch http://identifiers.org/snomedct/387778001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034150 property_value: IAO:0000589 "purpura (disease)" xsd:string [Term] id: MONDO:0002612 name: frontal lobe epilepsy def: "A localization-related (focal) form of epilepsy characterized by seizures which arise in the frontal lobe. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures). (From Adams et al., Principles of Neurology, 6th ed, pp318-9)" [MESH:D017034] synonym: "epilepsy of frontal lobe" EXACT [MONDO:design_pattern] synonym: "frontal lobe epilepsy" EXACT [MONDO:patterns/location] xref: DOID:3331 {source="MONDO:equivalentTo"} xref: MESH:D017034 {source="DOID:3331", source="MONDO:equivalentTo"} xref: SCTID:230394006 {source="DOID:3331", source="MONDO:equivalentTo"} xref: UMLS:C0085541 {source="DOID:3331", source="MONDO:equivalentTo"} is_a: EFO:0004263 {source="DOID:3331", source="MESH:D017034"} ! partial epilepsy property_value: exactMatch DOID:3331 property_value: exactMatch http://identifiers.org/mesh/D017034 property_value: exactMatch http://identifiers.org/snomedct/230394006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085541 [Term] id: MONDO:0002614 name: bone inflammation disease def: "Inflammation of the bone." [MESH:D010000] synonym: "bone inflammatory disease" EXACT [DOID:3342] synonym: "inflammatory disorder of bone" EXACT [DOID:3342] synonym: "osteitis" EXACT [DOID:3342] xref: DOID:3342 {source="MONDO:equivalentTo"} xref: MESH:D010000 {source="DOID:3342", source="MONDO:equivalentTo"} xref: SCTID:274144001 {source="DOID:3342", source="MONDO:equivalentTo"} xref: UMLS:C0029400 {source="DOID:3342", source="MONDO:equivalentTo"} is_a: EFO:0004260 {source="DOID:3342", source="MESH:D010000"} ! bone disease property_value: exactMatch DOID:3342 property_value: exactMatch http://identifiers.org/mesh/D010000 property_value: exactMatch http://identifiers.org/snomedct/274144001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029400 [Term] id: MONDO:0002615 name: xanthomatosis def: "A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the skin; tendons; joints of knees and elbows. Xanthomatosis is associated with disturbance of lipid metabolism and formation of foam cells." [MESH:D014973] synonym: "xanthelasmatosis" EXACT [DOID:3345] synonym: "xanthomatosis" EXACT [MONDO:ambiguous] synonym: "xanthomatosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:3345 {source="MONDO:equivalentTo"} xref: HP:0000991 {source="MONDO:otherHierarchy"} xref: MESH:D014973 {source="https://orcid.org/0000-0003-1967-3726", source="DOID:3345", source="MONDO:equivalentTo"} xref: SCTID:63103006 {source="DOID:3345", source="MONDO:equivalentTo"} xref: UMLS:C0043325 {source="DOID:3345", source="MONDO:equivalentTo"} is_a: MONDO:0019245 {source="DOID:3345"} ! lysosomal lipid storage disorder relationship: disease_has_feature EFO:0003075 {source="MONDO:Wikidata"} ! xanthoma property_value: exactMatch DOID:3345 property_value: exactMatch http://identifiers.org/mesh/D014973 property_value: exactMatch http://identifiers.org/snomedct/63103006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043325 property_value: IAO:0000589 "xanthomatosis (disease)" xsd:string [Term] id: MONDO:0002616 name: mesenchymal cell neoplasm def: "A benign, intermediate, or malignant neoplasm that arises from the mesenchyma-derived cells of the soft tissue or bone. Representative examples include lipoma, leiomyoma, leiomyosarcoma and osteosarcoma." [NCIT:C7059] synonym: "benign miscellaneous mesenchymal tumor" EXACT [DOID:3350] synonym: "benign miscellaneous mesenchymal tumour" EXACT OMO:0003005 [] synonym: "mesenchymal cell neoplasm" EXACT [NCIT:C7059] synonym: "mesenchymal cell tumor" EXACT [NCIT:C7059] synonym: "mesenchymal cell tumour" EXACT OMO:0003005 [] synonym: "mesenchymal neoplasm" EXACT [NCIT:C7059] synonym: "mesenchymal tumor" EXACT [DOID:3350, NCIT:C7059] synonym: "mesenchymal tumour" EXACT OMO:0003005 [] xref: DOID:3350 {source="MONDO:equivalentTo"} xref: NCIT:C7059 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3350"} xref: UMLS:C1334699 {source="NCIT:C7059", source="MONDO:equivalentTo", source="DOID:3350"} is_a: EFO:0000616 {source="DOID:3350/inferred", source="MONDO:Redundant", source="NCIT:C7059/inferred"} ! neoplasm property_value: exactMatch DOID:3350 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334699 property_value: exactMatch NCIT:C7059 [Term] id: MONDO:0002618 name: undifferentiated high grade pleomorphic sarcoma of bone def: "A rare, high-grade pleomorphic malignant neoplasm arising from the bone. It usually presents with pain which may or may not be associated with swelling in the affected area. It is characterized by the presence of spindle-shaped cells, polygonal or epithelioid cells, multinucleated giant cells, and inflammatory cells. The neoplastic cells exhibit nuclear pleomorphism and high mitotic activity. It metastasizes frequently, most often in the lungs." [NCIT:C8563] synonym: "malignant bone fibrous histiocytoma" EXACT [NCIT:C8563] synonym: "malignant fibrous histiocytoma of bone" EXACT [NCIT:C8563] synonym: "malignant fibrous histiocytoma of the bone" EXACT [DOID:3352, NCIT:C8563] synonym: "undifferentiated high grade pleomorphic sarcoma" EXACT [NCIT:C8563] synonym: "undifferentiated high grade pleomorphic sarcoma of bone" EXACT [NCIT:C8563] synonym: "undifferentiated high-grade pleomorphic sarcoma" EXACT [NCIT:C8563] xref: DOID:3352 {source="MONDO:equivalentTo"} xref: NCIT:C8563 {source="DOID:3352", source="MONDO:equivalentTo"} xref: UMLS:C0740479 {source="DOID:3352", source="NCIT:C8563", source="MONDO:equivalentTo"} is_a: MONDO:0021054 {source="NCIT:C8563"} ! bone sarcoma property_value: exactMatch DOID:3352 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0740479 property_value: exactMatch NCIT:C8563 property_value: excluded_subClassOf MONDO:0002142 {source="DOID:3352"} property_value: excluded_subClassOf MONDO:0009807 {source="DOID:3352"} [Term] id: MONDO:0002619 name: bone fibrosarcoma def: "A usually aggressive malignant neoplasm arising from the bone. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." [NCIT:C6604] synonym: "bone fibrosarcoma" EXACT [NCIT:C6604] synonym: "bone tissue fibrosarcoma (disease)" EXACT [MONDO:patterns/location] synonym: "fibrosarcoma of bone" EXACT [NCIT:C6604] synonym: "fibrosarcoma of the bone" EXACT [DOID:3354, NCIT:C6604] xref: DOID:3354 {source="MONDO:equivalentTo"} xref: NCIT:C6604 {source="MONDO:equivalentTo"} xref: UMLS:C2733623 {source="MONDO:equivalentTo", source="NCIT:C6604"} is_a: EFO:0002087 {source="MONDO:Redundant", source="NCIT:C6604"} ! fibrosarcoma is_a: MONDO:0021054 {source="MONDO:Redundant", source="NCIT:C6604"} ! bone sarcoma property_value: exactMatch DOID:3354 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2733623 property_value: exactMatch NCIT:C6604 property_value: excluded_subClassOf MONDO:0009807 {source="DOID:3354"} [Term] id: MONDO:0002621 name: extraosseous osteosarcoma def: "An osteosarcoma arising from the soft tissue." [NCIT:C8810] synonym: "extraosseous osteosarcoma" EXACT [NCIT:C8810] synonym: "extraskeletal osteogenic sarcoma" EXACT [DOID:3357, NCIT:C8810] synonym: "extraskeletal osteosarcoma" EXACT [NCIT:C8810] synonym: "osteosarcoma, extraskeletal, malignant" EXACT [NCIT:C8810] synonym: "soft tissue osteosarcoma" EXACT [NCIT:C8810] xref: DOID:3357 {source="MONDO:equivalentTo"} xref: ICD9:170.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C8810 {source="DOID:3357", source="MONDO:equivalentTo"} xref: SCTID:404077005 {source="DOID:3357", source="MONDO:equivalentTo"} xref: UMLS:C0855052 {source="DOID:3357", source="MONDO:equivalentTo", source="NCIT:C8810"} is_a: EFO:0000637 {source="DOID:3357", source="NCIT:C8810"} ! osteosarcoma is_a: EFO:1001968 {source="NCIT:C8810"} ! soft tissue sarcoma property_value: exactMatch DOID:3357 property_value: exactMatch http://identifiers.org/snomedct/404077005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0855052 property_value: exactMatch NCIT:C8810 [Term] id: MONDO:0002627 name: chondroblastic osteosarcoma def: "An osteosarcoma characterized by the presence of atypical cartilage of variable cellularity. It may or may not be associated with the presence of myxoid areas or focal bone formation." [NCIT:C4021] synonym: "chondroblastic osteogenic sarcoma" EXACT [NCIT:C4021] synonym: "chondroblastic osteosarcoma" EXACT [NCIT:C4021] synonym: "chondroblastic osteosarcoma (morphologic abnormality)" EXACT [DOID:3372] synonym: "chondrosarcomatous osteogenic sarcoma" EXACT [DOID:3372, NCIT:C4021] synonym: "CHOS" RELATED ABBREVIATION [ONCOTREE:CHOS] xref: DOID:3372 {source="MONDO:equivalentTo"} xref: ICDO:9181/3 {source="NCIT:C4021"} xref: NCIT:C4021 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3372"} xref: ONCOTREE:CHOS {source="MONDO:equivalentTo"} xref: UMLS:C0279603 {source="NCIT:C4021", source="MONDO:equivalentTo", source="DOID:3372"} is_a: MONDO:0002631 {source="NCIT:C4021"} ! conventional osteosarcoma property_value: exactMatch DOID:3372 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279603 property_value: exactMatch NCIT:C4021 [Term] id: MONDO:0002628 name: peripheral osteosarcoma def: "A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the surface of the bone." [NCIT:P378] synonym: "bone surface (peripheral) osteosarcoma" EXACT [NCIT:C7134] synonym: "peripheral osteosarcoma" EXACT [NCIT:C7134] synonym: "surface osteosarcoma" EXACT [DOID:3374, NCIT:C7134] xref: DOID:3374 {source="MONDO:equivalentTo"} xref: NCIT:C7134 {source="DOID:3374", source="MONDO:equivalentTo"} xref: UMLS:C1332591 {source="DOID:3374", source="NCIT:C7134", source="MONDO:equivalentTo"} is_a: MONDO:0002629 {source="DOID:3374", source="NCIT:C7134/inferred"} ! bone osteosarcoma property_value: exactMatch DOID:3374 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332591 property_value: exactMatch NCIT:C7134 [Term] id: MONDO:0002629 name: bone osteosarcoma def: "A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs." [NCIT:C53707] subset: ordo_disease {source="Orphanet:668"} synonym: "bone osteosarcoma" EXACT [NCIT:C53707] synonym: "osteosarcoma of bone" EXACT [NCIT:C53707] synonym: "osteosarcoma, somatic" EXACT [OMIM:259500, OMIM:genemap2] synonym: "osteosarcoma, somatic mutation" EXACT [OMIM:259500, OMIM:genemap2] synonym: "primary osteosarcoma of bone" EXACT [DOID:3376, NCIT:C4834] xref: DOID:3376 {source="MONDO:equivalentTo"} xref: ICD9:170.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10031291 {source="Orphanet:668", source="Orphanet:668/e"} xref: NCIT:C53707 {source="DOID:3376", source="MONDO:equivalentTo"} xref: OMIM:259500 {source="Orphanet:668", source="MONDO:equivalentTo", source="DOID:3347", source="Orphanet:668/e", source="EFO:0000637"} xref: Orphanet:668 {source="MONDO:equivalentTo", source="OMIM:259500"} xref: SCTID:307576001 {source="DOID:3376", source="MONDO:equivalentTo"} is_a: EFO:0000637 {source="DOID:3376", source="NCIT:C53707"} ! osteosarcoma is_a: MONDO:0021054 {source="NCIT:C53707", source="Orphanet:668"} ! bone sarcoma property_value: closeMatch http://identifiers.org/meddra/10031291 property_value: exactMatch DOID:3376 property_value: exactMatch http://identifiers.org/snomedct/307576001 property_value: exactMatch https://omim.org/entry/259500 property_value: exactMatch NCIT:C53707 property_value: exactMatch Orphanet:668 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5537 xsd:anyURI [Term] id: MONDO:0002630 name: small cell osteogenic sarcoma def: "An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of small cells and osteoid production. The prognosis is usually unfavorable." [NCIT:P378] synonym: "round cell osteosarcoma" EXACT [DOID:3377] synonym: "SCOS" RELATED ABBREVIATION [ONCOTREE:SCOS] synonym: "small cell osteosarcoma" EXACT [DOID:3377, NCIT:C4023] xref: DOID:3377 {source="MONDO:equivalentTo"} xref: ICDO:9185/3 {source="NCIT:C4023"} xref: NCIT:C4023 {source="DOID:3377", source="MONDO:equivalentTo"} xref: ONCOTREE:SCOS {source="MONDO:equivalentTo"} xref: UMLS:C0279622 {source="DOID:3377", source="NCIT:C4023", source="MONDO:equivalentTo"} is_a: EFO:1000350 ! Malignant Bone Neoplasm is_a: EFO:1001184 {source="NCIT:C4023"} ! small cell sarcoma property_value: exactMatch DOID:3377 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279622 property_value: exactMatch NCIT:C4023 property_value: excluded_subClassOf MONDO:0002631 {source="DOID:3377"} [Term] id: MONDO:0002631 name: conventional osteosarcoma def: "A high grade malignant bone-forming mesenchymal neoplasm producing osteoid. The tumor arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis." [NCIT:C35870] synonym: "central osteosarcoma" EXACT [NCIT:C35870] synonym: "conventional central osteosarcoma" EXACT [DOID:3378, NCIT:C35870] synonym: "conventional osteosarcoma" EXACT [NCIT:C35870] synonym: "intracortical osteogenic sarcoma" EXACT [MONDO:0004300, NCIT:C35870] synonym: "intracortical osteosarcoma" EXACT [DOID:7602, NCIT:C35870] synonym: "intracortical osteosarcoma (morphologic abnormality)" EXACT [DOID:7602] synonym: "medullary osteosarcoma" EXACT [NCIT:C35870] xref: DOID:3378 {source="MONDO:equivalentObsolete"} xref: DOID:7602 {source="MONDO:equivalentTo"} xref: ICDO:9186/3 {source="NCIT:C35870"} xref: ICDO:9195/3 {source="NCIT:C35870"} xref: NCIT:C35870 {source="DOID:7602", source="MONDO:equivalentTo"} xref: UMLS:C1266166 {source="NCIT:C35870", source="DOID:7602", source="MONDO:equivalentTo"} is_a: MONDO:0002629 {source="DOID:3378", source="NCIT:C35870/inferred"} ! bone osteosarcoma property_value: exactMatch DOID:7602 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266166 property_value: exactMatch NCIT:C35870 [Term] id: MONDO:0002633 name: cranial nerve neoplasm def: "Abnormal growth of the cells that comprise the cranial nerves." [NCIT:C2963] synonym: "cranial nerve neoplasm" EXACT [NCIT:C2963] synonym: "cranial nerve neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "cranial nerve neoplasms" EXACT [NCIT:C2963] synonym: "cranial nerve tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2963] synonym: "cranial nerve tumour" EXACT OMO:0003005 [] synonym: "neoplasm of cranial nerve" EXACT [MONDO:patterns/neoplasm, NCIT:C2963] synonym: "neoplasm of the cranial nerve" EXACT [NCIT:C2963] synonym: "tumor of cranial nerve" EXACT [MONDO:patterns/neoplasm, NCIT:C2963] synonym: "tumor of the cranial nerve" EXACT [DOID:338, NCIT:C2963] synonym: "tumour of cranial nerve" EXACT OMO:0003005 [] synonym: "tumour of the cranial nerve" EXACT OMO:0003005 [] xref: DOID:338 {source="MONDO:equivalentObsolete"} xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D003390 {source="DOID:338", source="MONDO:equivalentTo"} xref: NCIT:C2963 {source="DOID:338", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:126966009 {source="DOID:338", source="MONDO:equivalentTo"} xref: UMLS:C0010267 {source="DOID:338", source="MONDO:equivalentTo", source="NCIT:C2963"} is_a: EFO:0002431 {source="MESH:D003390", source="MONDO:Redundant"} ! tumour of cranial and spinal nerves is_a: EFO:0005950 ! head and neck neoplasia is_a: MONDO:0003569 {source="MESH:D003390", source="MONDO:Redundant", source="NCIT:C2963"} ! cranial nerve neuropathy property_value: exactMatch http://identifiers.org/mesh/D003390 property_value: exactMatch http://identifiers.org/snomedct/126966009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010267 property_value: exactMatch NCIT:C2963 [Term] id: MONDO:0002635 name: periodontal disorder def: "An inflammatory process of the gingival tissues and/or periodontal membrane of the teeth, resulting in an abnormally deep gingival sulcus, possibly producing periodontal pockets and loss of alveolar bone support." [NCIT:P378] synonym: "disease of periodontium" EXACT [MONDO:patterns/location_top] synonym: "disease of supporting structures of teeth" EXACT [DOID:3388] synonym: "disease or disorder of periodontium" EXACT [] synonym: "disorder of periodontium" EXACT [MONDO:patterns/location_top] synonym: "periodontal disease" EXACT [DOID:3388] synonym: "periodontal disorder" EXACT [NCIT:C63743] synonym: "periodontium disease" EXACT [MONDO:patterns/location] synonym: "periodontium disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "periodontium disorder" EXACT [DOID:3388] xref: DOID:3388 {source="MONDO:equivalentTo"} xref: ICD9:523.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D010510 {source="DOID:3388", source="MONDO:equivalentTo"} xref: NCIT:C63743 {source="DOID:3388", source="MONDO:equivalentTo"} xref: SCTID:2556008 {source="DOID:3388", source="MONDO:equivalentTo"} xref: UMLS:C0031090 {source="DOID:3388", source="MONDO:equivalentTo", source="NCIT:C63743"} is_a: EFO:1001216 {source="DOID:3388", source="NCIT:C63743/inferred"} ! tooth disease property_value: exactMatch DOID:3388 property_value: exactMatch http://identifiers.org/mesh/D010510 property_value: exactMatch http://identifiers.org/snomedct/2556008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031090 property_value: exactMatch NCIT:C63743 [Term] id: MONDO:0002647 name: laryngitis def: "An acute or chronic, bacterial or viral inflammatory process affecting the larynx. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness." [NCIT:P378] synonym: "inflammation of larynx" EXACT [] synonym: "laryngeal Inflammation" EXACT [NCIT:C26811] synonym: "laryngeal inflammation" EXACT [NCIT:C26811] synonym: "larynx inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:3437 {source="MONDO:equivalentTo"} xref: ICD9:464.00 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D007827 {source="MONDO:equivalentTo", source="DOID:3437"} xref: NCIT:C26811 {source="MONDO:equivalentTo", source="DOID:3437"} xref: SCTID:45913009 {source="MONDO:equivalentTo", source="DOID:3437"} xref: UMLS:C0023067 {source="MONDO:equivalentTo", source="DOID:3437", source="NCIT:C26811"} is_a: EFO:0009673 {source="DOID:3437", source="MESH:D007827", source="MONDO:Redundant", source="NCIT:C26811/inferred"} ! laryngeal disease is_a: EFO:0009903 {source="MONDO:Redundant"} ! inflammatory disease property_value: exactMatch DOID:3437 property_value: exactMatch http://identifiers.org/mesh/D007827 property_value: exactMatch http://identifiers.org/snomedct/45913009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023067 property_value: exactMatch NCIT:C26811 [Term] id: MONDO:0002652 name: anus adenocarcinoma def: "An adenocarcinoma arising in the anal canal epithelium, including the mucosal surface, the anal glands, and the lining of fistulous tracts. The prognosis is related to the stage at diagnosis." [NCIT:C5600] synonym: "adenocarcinoma of anus" EXACT [DOID:3447, NCIT:C5600] synonym: "adenocarcinoma of the anus" EXACT [DOID:3447, NCIT:C5600] synonym: "anal adenocarcinoma" EXACT [NCIT:C5600] synonym: "anus adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:3447 {source="MONDO:equivalentTo"} xref: NCIT:C5600 {source="DOID:3447", source="MONDO:equivalentTo"} xref: SCTID:423607006 {source="DOID:3447", source="MONDO:equivalentTo"} xref: UMLS:C1332257 {source="DOID:3447", source="MONDO:equivalentTo", source="NCIT:C5600"} is_a: EFO:0005631 ! rectal adenocarcinoma is_a: MONDO:0003199 {source="DOID:3447", source="MONDO:Redundant", source="NCIT:C5600"} ! anal carcinoma property_value: exactMatch DOID:3447 property_value: exactMatch http://identifiers.org/snomedct/423607006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332257 property_value: exactMatch NCIT:C5600 [Term] id: MONDO:0002654 name: uterine disorder def: "A non-neoplastic or neoplastic disorder that affects the uterine corpus or the cervix. Representative examples of non-neoplastic disorders include endometritis and cervicitis. Representative examples of neoplastic disorders include endometrial carcinoma, carcinosarcoma, and cervical carcinoma." [NCIT:P378] synonym: "disease of uterus" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of uterus" EXACT [] synonym: "disorder of uterus" EXACT [MONDO:patterns/location_top] synonym: "uterine disease" EXACT [NCIT:C26907] synonym: "uterine disorder" EXACT [NCIT:C26907] synonym: "uterus disease" EXACT [MONDO:patterns/location] synonym: "uterus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:345 {source="MONDO:equivalentTo"} xref: ICD9:621.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:621.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:345"} xref: MESH:D014591 {source="MONDO:equivalentTo", source="DOID:345"} xref: NCIT:C26907 {source="MONDO:equivalentTo", source="DOID:345"} xref: SCTID:12337004 {source="MONDO:equivalentTo", source="DOID:345"} xref: UMLS:C0042131 {source="NCIT:C26907", source="MONDO:equivalentTo", source="DOID:345"} is_a: EFO:0009549 {source="DOID:345", source="MESH:D014591", source="MONDO:Redundant", source="NCIT:C26907"} ! female reproductive system disease property_value: exactMatch DOID:345 property_value: exactMatch http://identifiers.org/mesh/D014591 property_value: exactMatch http://identifiers.org/snomedct/12337004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042131 property_value: exactMatch NCIT:C26907 [Term] id: MONDO:0002661 name: uveal disorder def: "A non-neoplastic or neoplastic disorder that affects the uvea. Representative examples include uveitis, chorioretinitis, and uveal melanoma." [NCIT:P378] synonym: "disease of uvea" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of uvea" EXACT [] synonym: "disorder of uvea" EXACT [MONDO:patterns/location_top] synonym: "disorder of uveal tract" RELATED [MONDO:patterns/location_top] synonym: "uvea disease" EXACT [MONDO:patterns/location] synonym: "uvea disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "uveal disease" EXACT [NCIT:C26908] synonym: "uveal diseases" RELATED [GARD:0008192] synonym: "uveal disorder" EXACT [NCIT:C26908] synonym: "uveal tract disease" EXACT [MONDO:patterns/location] xref: DOID:3480 {source="MONDO:equivalentTo"} xref: MESH:D014603 {source="MONDO:equivalentTo", source="DOID:3480"} xref: NCIT:C26908 {source="MONDO:equivalentTo", source="DOID:3480"} xref: SCTID:95678007 {source="MONDO:equivalentTo", source="DOID:3480"} xref: UMLS:C0042161 {source="NCIT:C26908", source="MONDO:equivalentTo", source="DOID:3480"} is_a: EFO:0003966 {source="DOID:3480", source="MESH:D014603", source="MONDO:Redundant", source="NCIT:C26908"} ! eye disease property_value: exactMatch DOID:3480 property_value: exactMatch http://identifiers.org/mesh/D014603 property_value: exactMatch http://identifiers.org/snomedct/95678007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042161 property_value: exactMatch NCIT:C26908 [Term] id: MONDO:0002664 name: extrahepatic bile duct signet ring cell carcinoma def: "An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of signet ring malignant epithelial cells." [NCIT:C5776] synonym: "bile duct signet Ring cell carcinoma" EXACT [DOID:3494, NCIT:C5776] synonym: "bile duct signet ring cell carcinoma" EXACT [MONDO:patterns/location] synonym: "extrahepatic bile duct signet Ring cell carcinoma" EXACT [NCIT:C5776] synonym: "signet Ring cell bile duct carcinoma" EXACT [NCIT:C5776] synonym: "signet Ring cell carcinoma of bile duct" EXACT [NCIT:C5776] synonym: "signet Ring cell carcinoma of the bile duct" EXACT [NCIT:C5776] xref: DOID:3494 {source="MONDO:equivalentTo"} xref: NCIT:C5776 {source="MONDO:equivalentTo", source="DOID:3494"} xref: UMLS:C0861859 {source="MONDO:equivalentTo", source="NCIT:C5776", source="DOID:3494"} is_a: EFO:0000698 {source="DOID:3494", source="MONDO:Redundant", source="NCIT:C5776"} ! signet ring cell carcinoma is_a: MONDO:0002665 {source="MONDO:Redundant", source="NCIT:C5776"} ! extrahepatic bile duct adenocarcinoma property_value: exactMatch DOID:3494 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0861859 property_value: exactMatch NCIT:C5776 [Term] id: MONDO:0002665 name: extrahepatic bile duct adenocarcinoma def: "A carcinoma that arises from glandular epithelial cells of the extrahepatic bile duct" [https://orcid.org/0000-0002-6601-2165] synonym: "adenocarcinoma of extrahepatic bile duct" EXACT [DOID:3495, NCIT:C7975] synonym: "adenocarcinoma of the extrahepatic bile duct" EXACT [DOID:3495, NCIT:C7975] synonym: "extrahepatic bile duct adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C7975] xref: DOID:3495 {source="MONDO:equivalentTo"} xref: NCIT:C7975 {source="DOID:3495", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C0279659 {source="DOID:3495", source="MONDO:equivalentTo", source="NCIT:C7975"} is_a: MONDO:0003090 {source="DOID:3495", source="MONDO:Redundant", source="NCIT:C7975"} ! extrahepatic bile duct carcinoma is_a: MONDO:0003193 {source="DOID:3495", source="MONDO:Redundant", source="NCIT:C7975"} ! bile duct adenocarcinoma property_value: exactMatch DOID:3495 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279659 property_value: exactMatch NCIT:C7975 [Term] id: MONDO:0002674 name: stricture or kinking of ureter xref: DOID:3508 {source="MONDO:equivalentTo"} xref: ICD9:593.3 {source="DOID:3508"} is_a: EFO:0003086 {source="DOID:3508"} ! kidney disease property_value: exactMatch DOID:3508 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002677 name: conventional fibrosarcoma def: "A malignant mesenchymal neoplasm composed of fibroblasts, and characterized by collagen production and usually a herringbone architectural pattern." [NCIT:C9429] synonym: "classic fibrosarcoma" EXACT [NCIT:C9429] synonym: "classical fibrosarcoma" EXACT [NCIT:C9429] synonym: "conventional fibrosarcoma" EXACT [NCIT:C9429] xref: DOID:3517 {source="MONDO:equivalentTo"} xref: NCIT:C9429 {source="MONDO:equivalentTo", source="DOID:3517", source="MONDO:exact-label-match"} xref: UMLS:C1333156 {source="MONDO:equivalentTo", source="DOID:3517", source="NCIT:C9429"} is_a: EFO:0002087 {source="DOID:3517", source="NCIT:C9429"} ! fibrosarcoma property_value: exactMatch DOID:3517 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333156 property_value: exactMatch NCIT:C9429 [Term] id: MONDO:0002678 name: pediatric fibrosarcoma def: "A malignant neoplasm arising from the deep soft tissues in children. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." [NCIT:P378] synonym: "childhood fibrosarcoma" EXACT [NCIT:C8088] synonym: "fibrosarcoma" BROAD [NCIT:C8088] synonym: "pediatric fibrosarcoma" EXACT [NCIT:C8088] xref: DOID:3520 {source="MONDO:equivalentTo"} xref: NCIT:C8088 {source="DOID:3520", source="MONDO:equivalentTo"} xref: UMLS:C0279981 {source="NCIT:C8088", source="DOID:3520", source="MONDO:equivalentTo"} is_a: EFO:0002087 {source="DOID:3520", source="NCIT:C8088"} ! fibrosarcoma is_a: EFO:1000654 {source="NCIT:C8088"} ! childhood cancer property_value: exactMatch DOID:3520 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279981 property_value: exactMatch NCIT:C8088 [Term] id: MONDO:0002679 name: cerebral infarction def: "An ischemic condition of the brain, producing a persistent focal neurological deficit in the area of distribution of the cerebral arteries." [NCIT:C50486] synonym: "brain infarction of telencephalon" EXACT [MONDO:design_pattern] synonym: "cerebral infarct" EXACT [DOID:3526] synonym: "cerebral infarction" EXACT [DOID:3526] synonym: "cerebral ischemia" EXACT [NCIT:C50486] synonym: "cerebral, infarction" EXACT [NCIT:C50486] synonym: "CVA - cerebral infarction" EXACT [DOID:3526] synonym: "infarction, cerebral" EXACT [NCIT:C50486] synonym: "telencephalon brain infarction" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:3526 {source="MONDO:equivalentTo"} xref: ICD9:433.01 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:433.21 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:433.31 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:433.81 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:434.91 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D002544 {source="MONDO:equivalentTo", source="DOID:3526"} xref: NCIT:C50486 {source="MONDO:equivalentTo", source="DOID:3526"} xref: SCTID:20059004 {source="DOID:3526", source="MONDO:directSiblingOf"} xref: SCTID:432504007 {source="MONDO:equivalentTo", source="DOID:3526"} xref: UMLS:C0007785 {source="MONDO:equivalentTo", source="DOID:3526", source="NCIT:C50486"} is_a: EFO:0004277 {source="DOID:3526", source="MESH:D002544", source="MONDO:Redundant"} ! brain infarction property_value: exactMatch DOID:3526 property_value: exactMatch http://identifiers.org/mesh/D002544 property_value: exactMatch http://identifiers.org/snomedct/432504007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007785 property_value: exactMatch NCIT:C50486 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002684 name: atypical choroid plexus papilloma def: "A choroid plexus papilloma characterized by increased mitotic activity." [NCIT:C53686] subset: ordo_disease {source="Orphanet:251902"} synonym: "ACPP" RELATED ABBREVIATION [ONCOTREE:ACPP] synonym: "atypical choroid plexus papilloma" EXACT [DOID:3544, NCIT:C53686, NCIT:C8382, Orphanet:251902] synonym: "atypical choroid plexus papilloma (morphologic abnormality)" EXACT [DOID:3544] synonym: "atypical CPP" EXACT [Orphanet:251902] synonym: "atypical papilloma of choroid plexus" EXACT [MONDO:0016720] xref: DOID:3544 {source="MONDO:equivalentTo"} xref: ICDO:9390/1 {source="NCIT:C53686"} xref: NCIT:C53686 {source="DOID:3544", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:ACPP {source="MONDO:equivalentTo"} xref: Orphanet:251902 {source="MONDO:equivalentTo"} xref: UMLS:C1266176 {source="DOID:3544", source="Orphanet:251902/e", source="MONDO:equivalentTo", source="NCIT:C53686", source="Orphanet:251902"} is_a: MONDO:0016717 {source="NCIT:C53686", source="ONCOTREE:ACPP", source="Orphanet:251902"} ! choroid plexus neoplasm property_value: exactMatch DOID:3544 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266176 property_value: exactMatch NCIT:C53686 property_value: exactMatch Orphanet:251902 [Term] id: MONDO:0002691 name: liver cancer def: "An epithelial or non-epithelial malignant neoplasm that arises from the liver. Representative examples include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, lymphoma, and sarcoma." [NCIT:C34803] synonym: "Ca liver - primary" EXACT [DOID:3571] synonym: "ca liver - primary" EXACT [DOID:3571] synonym: "cancer of liver" EXACT [MONDO:patterns/cancer] synonym: "hepatic cancer" EXACT [DOID:3571] synonym: "hepatic neoplasm" EXACT [DOID:3571] synonym: "liver cancer" EXACT [MONDO:patterns/location] synonym: "malignant hepato-biliary neoplasm" EXACT [DOID:3571] synonym: "malignant liver neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of liver" EXACT [DOID:3571, MONDO:patterns/cancer] synonym: "malignant neoplasm of liver, not specified as primary or secondary" EXACT [DOID:3571, ICD9CM:155.2] synonym: "malignant neoplasm of liver, primary" EXACT [DOID:3571, ICD9CM:155.0] synonym: "malignant tumor of liver" EXACT [DOID:3571] synonym: "malignant tumour of liver" EXACT OMO:0003005 [] synonym: "non-resectable primary hepatic malignant neoplasm" EXACT [DOID:3571] synonym: "primary cancer of liver" RELATED [GARD:0006608] synonym: "primary liver cancer" EXACT [DOID:3571] synonym: "primary malignant liver neoplasm" EXACT [NCIT:C34803] synonym: "primary malignant neoplasm of liver" EXACT [DOID:3571, NCIT:C34803] synonym: "primary tumor of the liver" RELATED [GARD:0006608] synonym: "primary tumour of the liver" RELATED OMO:0003005 [] synonym: "Resectable malignant neoplasm of liver" EXACT [DOID:3571, NCIT:C7692] synonym: "resectable malignant neoplasm of the liver" EXACT [DOID:3571] xref: DOID:3571 {source="MONDO:equivalentTo"} xref: ICD9:155.0 {source="DOID:3571"} xref: ICD9:155.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:3571"} xref: NCIT:C34803 {source="MONDO:equivalentTo", source="DOID:3571"} xref: SCTID:93870000 {source="MONDO:equivalentTo", source="DOID:3571"} xref: UMLS:C0023903 {source="MONDO:relatedTo", source="DOID:3571"} xref: UMLS:C0024620 {source="NCIT:C34803", source="MONDO:equivalentTo", source="DOID:3571"} xref: UMLS:C0345904 {source="MONDO:equivalentTo", source="DOID:3571"} xref: UMLS:C0854795 {source="MONDO:equivalentTo", source="DOID:3571"} is_a: MONDO:0002516 {source="DOID:3571", source="MONDO:Redundant", source="NCIT:C34803/inferred"} ! digestive system cancer is_a: MONDO:0021069 ! malignant endocrine neoplasm is_a: MONDO:0024477 {source="NCIT:C34803"} ! liver and intrahepatic bile duct neoplasm property_value: exactMatch DOID:3571 property_value: exactMatch http://identifiers.org/snomedct/93870000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024620 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345904 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0854795 property_value: exactMatch NCIT:C34803 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002708 name: retinitis def: "Inflammation of the retina." [NCIT:P378] synonym: "inflammation of retina" EXACT [] synonym: "retina inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:3612 {source="MONDO:equivalentTo"} xref: MESH:D012173 {source="DOID:3612", source="MONDO:equivalentTo"} xref: NCIT:C115993 {source="DOID:3612", source="MONDO:equivalentTo"} xref: SCTID:399463004 {source="DOID:3612", source="MONDO:equivalentTo"} xref: UMLS:C0035333 {source="DOID:3612", source="MONDO:equivalentTo", source="NCIT:C115993"} is_a: EFO:0003839 {source="DOID:3612", source="MESH:D012173", source="MONDO:Redundant"} ! retinopathy is_a: EFO:1001119 ! posterior uveitis property_value: exactMatch DOID:3612 property_value: exactMatch http://identifiers.org/mesh/D012173 property_value: exactMatch http://identifiers.org/snomedct/399463004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035333 property_value: exactMatch NCIT:C115993 [Term] id: MONDO:0002715 name: uterine cancer def: "Primary or metastatic malignant neoplasm involving the uterine corpus and/or the cervix." [NCIT:C3552] synonym: "CA - cancer of uterus" EXACT [DOID:363] synonym: "cancer of the uterus" EXACT [NCIT:C3552] synonym: "cancer of uterus" EXACT [MONDO:patterns/cancer, NCIT:C3552] synonym: "malignant neoplasm of the uterus" EXACT [NCIT:C3552] synonym: "malignant neoplasm of uterus" EXACT [DOID:363, MONDO:patterns/cancer, NCIT:C3552] synonym: "malignant tumor of the uterus" EXACT [NCIT:C3552] synonym: "malignant tumor of uterus" EXACT [NCIT:C3552] synonym: "malignant tumour of the uterus" EXACT OMO:0003005 [] synonym: "malignant tumour of uterus" EXACT OMO:0003005 [] synonym: "malignant uterine neoplasm" EXACT [NCIT:C3552] synonym: "malignant uterine tumor" EXACT [DOID:363, NCIT:C3552] synonym: "malignant uterine tumour" EXACT OMO:0003005 [] synonym: "malignant uterus neoplasm" EXACT [MONDO:patterns/cancer] synonym: "neoplasm of uterus" BROAD [DOID:363] synonym: "tumor of uterus" BROAD [DOID:363] synonym: "tumour of uterus" BROAD OMO:0003005 [] synonym: "uterine cancer" EXACT [NCIT:C3552] synonym: "uterine tumor" BROAD [DOID:363, NCIT:C3435] synonym: "uterine tumour" BROAD OMO:0003005 [] synonym: "uterus cancer" EXACT [MONDO:patterns/location] synonym: "uterus neoplasm" BROAD [DOID:363] xref: DOID:363 {source="MONDO:equivalentTo"} xref: ICD9:179 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:363"} xref: MESH:D014594 {source="MONDO:equivalentTo", source="DOID:363"} xref: NCIT:C3552 {source="MONDO:equivalentTo", source="DOID:363"} xref: SCTID:371973000 {source="MONDO:equivalentTo", source="DOID:363"} is_a: EFO:0003859 {source="MONDO:Redundant", source="NCIT:C3552"} ! uterine neoplasm is_a: EFO:1001331 {source="DOID:363", source="NCIT:C3552"} ! Genital neoplasm, female property_value: exactMatch DOID:363 property_value: exactMatch http://identifiers.org/mesh/D014594 property_value: exactMatch http://identifiers.org/snomedct/371973000 property_value: exactMatch NCIT:C3552 [Term] id: MONDO:0002718 name: central nervous system teratoma def: "A mature or immature teratoma that affects the central nervous system." [NCIT:C5441] subset: ordo_clinical_subtype {source="Orphanet:252018"} synonym: "central nervous system teratoma" EXACT [MONDO:patterns/location, NCIT:C5441] synonym: "CNS teratoma" EXACT [DOID:3640, NCIT:C5441] synonym: "teratoma of central nervous system" EXACT [NCIT:C5441] synonym: "teratoma of CNS" EXACT [NCIT:C5441] synonym: "teratoma of the central nervous system" EXACT [MONDO:0016741, NCIT:C5441] synonym: "teratoma of the CNS" EXACT [NCIT:C5441] xref: DOID:3640 {source="MONDO:equivalentTo"} xref: NCIT:C5441 {source="DOID:3640", source="MONDO:equivalentTo"} xref: Orphanet:252018 {source="MONDO:equivalentTo"} xref: UMLS:C1332895 {source="DOID:3640", source="NCIT:C5441", source="MONDO:equivalentTo"} is_a: MONDO:0002601 {source="DOID:3640", source="MONDO:Redundant", source="NCIT:C5441"} ! teratoma is_a: MONDO:0016738 {source="Orphanet:252018"} ! primary germ cell tumor of central nervous system is_a: MONDO:0019500 {source="Orphanet:252018"} ! extragonadal teratoma is_a: MONDO:0020574 ! central nervous system nongerminomatous germ cell tumor property_value: exactMatch DOID:3640 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332895 property_value: exactMatch NCIT:C5441 property_value: exactMatch Orphanet:252018 [Term] id: MONDO:0002720 name: sella turcica neoplasm def: "A benign or malignant neoplasm that occurs in sella turcica. Representative examples include craniopharyngioma and pituitary gland adenoma." [NCIT:C4944] synonym: "neoplasm of sella turcica" EXACT [NCIT:C4944] synonym: "neoplasm of the sella turcica" EXACT [NCIT:C4944] synonym: "sella turcica neoplasm" EXACT [NCIT:C4944] synonym: "sella turcica tumor" EXACT [NCIT:C4944] synonym: "sella turcica tumour" EXACT OMO:0003005 [] synonym: "sellar neoplasm" EXACT [NCIT:C4944] synonym: "sellar tumor" EXACT [NCIT:C4944] synonym: "sellar tumour" EXACT OMO:0003005 [] synonym: "selt" RELATED [ONCOTREE:SELT] synonym: "tumor of sella turcica" EXACT [DOID:3643, NCIT:C4944] synonym: "tumor of the sella turcica" EXACT [NCIT:C4944] synonym: "tumour of sella turcica" EXACT OMO:0003005 [] synonym: "tumour of the sella turcica" EXACT OMO:0003005 [] xref: DOID:3643 {source="MONDO:equivalentTo"} xref: NCIT:C4944 {source="DOID:3643", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:SELT {source="MONDO:equivalentTo"} xref: UMLS:C0748616 {source="DOID:3643", source="MONDO:equivalentTo", source="NCIT:C4944"} is_a: MONDO:0002785 {source="DOID:3643", source="NCIT:C4944"} ! skull base neoplasm property_value: exactMatch DOID:3643 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0748616 property_value: exactMatch NCIT:C4944 [Term] id: MONDO:0002721 name: necrosis of pituitary def: "Ischemic or hemorrhagic necrosis of the pituitary gland." [NCIT:P378] synonym: "pituitary gland Necrosis" EXACT [NCIT:C27066] synonym: "pituitary necrosis" EXACT [DOID:3646, NCIT:C27066] xref: DOID:3646 {source="MONDO:equivalentTo"} xref: NCIT:C27066 {source="MONDO:equivalentTo", source="DOID:3646"} xref: SCTID:59572000 {source="MONDO:equivalentTo", source="DOID:3646"} xref: UMLS:C0271558 {source="NCIT:C27066", source="MONDO:equivalentTo", source="DOID:3646"} is_a: EFO:0009607 {source="DOID:3646", source="NCIT:C27066/inferred"} ! pituitary gland disease property_value: exactMatch DOID:3646 property_value: exactMatch http://identifiers.org/snomedct/59572000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271558 property_value: exactMatch NCIT:C27066 [Term] id: MONDO:0002722 name: olfactory nerve neoplasm def: "Benign and malignant neoplasms which arise from or metastasize to the olfactory or first cranial nerve. Clinical features may include facial pain and impairments of taste or smell." [NCIT:C5121] synonym: "cranial nerve I neoplasms" EXACT [NCIT:C5121] synonym: "first cranial nerve neoplasm" EXACT [NCIT:C5121] synonym: "first cranial nerve neoplasms" EXACT [NCIT:C5121] synonym: "first cranial nerve tumor" EXACT [NCIT:C5121] synonym: "first cranial nerve tumour" EXACT OMO:0003005 [] synonym: "neoplasm of first cranial nerve" EXACT [NCIT:C5121] synonym: "neoplasm of olfactory nerve" EXACT [MONDO:patterns/neoplasm, NCIT:C5121] synonym: "neoplasm of the first cranial nerve" EXACT [NCIT:C5121] synonym: "neoplasm of the olfactory nerve" EXACT [NCIT:C5121] synonym: "neoplasms, cranial nerve I" EXACT [NCIT:C5121] synonym: "neoplasms, olfactory nerve" EXACT [NCIT:C5121] synonym: "olfactory nerve neoplasm" EXACT [NCIT:C5121] synonym: "olfactory nerve neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "olfactory nerve neoplasms" EXACT [NCIT:C5121] synonym: "olfactory nerve tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5121] synonym: "olfactory nerve tumour" EXACT OMO:0003005 [] synonym: "olfactory neural neoplasm" EXACT [NCIT:C5121] synonym: "olfactory neural tumor" EXACT [DOID:8256, NCIT:C5121] synonym: "olfactory neural tumour" EXACT OMO:0003005 [] synonym: "tumor of first cranial nerve" EXACT [NCIT:C5121] synonym: "tumor of olfactory nerve" EXACT [DOID:366, MONDO:patterns/neoplasm, NCIT:C5121] synonym: "tumor of the first cranial nerve" EXACT [NCIT:C5121] synonym: "tumor of the olfactory nerve" EXACT [NCIT:C5121] synonym: "tumour of first cranial nerve" EXACT OMO:0003005 [] synonym: "tumour of olfactory nerve" EXACT OMO:0003005 [] synonym: "tumour of the first cranial nerve" EXACT OMO:0003005 [] synonym: "tumour of the olfactory nerve" EXACT OMO:0003005 [] xref: DOID:366 {source="MONDO:equivalentObsolete"} xref: DOID:8256 {source="MONDO:equivalentTo"} xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C5121 {source="MONDO:equivalentTo", source="DOID:366"} xref: SCTID:126967000 {source="MONDO:equivalentTo", source="DOID:366"} xref: UMLS:C0346319 {source="NCIT:C5121", source="MONDO:equivalentTo", source="DOID:366"} is_a: EFO:0003833 ! brain neoplasm is_a: MONDO:0002633 {source="DOID:366/inferred", source="DOID:8256/inferred", source="MONDO:Redundant", source="NCIT:C5121"} ! cranial nerve neoplasm is_a: MONDO:0002727 {source="MONDO:Redundant", source="NCIT:C5121"} ! olfactory nerve disorder property_value: exactMatch DOID:8256 property_value: exactMatch http://identifiers.org/snomedct/126967000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346319 property_value: exactMatch NCIT:C5121 [Term] id: MONDO:0002727 name: olfactory nerve disorder def: "A disease involving the olfactory nerve." [https://orcid.org/0000-0002-6601-2165] synonym: "disease of olfactory nerve" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of olfactory nerve" EXACT [] synonym: "disorder of 1st nerve" EXACT [DOID:367, NCIT:C27210] synonym: "disorder of olfactory [1st] nerve" EXACT [DOID:367, ICD9CM:352.0] synonym: "disorder of olfactory nerve" EXACT [MONDO:patterns/location_top] synonym: "disorder of the 1st nerve" EXACT [NCIT:C27210] synonym: "olfactory nerve disease" EXACT [MONDO:patterns/location] synonym: "olfactory nerve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "olfactory nerve disorder" EXACT [NCIT:C27210] xref: DOID:367 {source="MONDO:equivalentTo"} xref: ICD9:352.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:367"} xref: MESH:D020431 {source="MONDO:equivalentTo", source="DOID:367"} xref: NCIT:C27210 {source="MONDO:equivalentTo", source="DOID:367"} xref: SCTID:68982002 {source="MONDO:equivalentTo", source="DOID:367"} xref: UMLS:C0751937 {source="NCIT:C27210", source="MONDO:equivalentTo", source="DOID:367"} is_a: EFO:0005774 {source="DOID:367"} ! brain disease is_a: EFO:0009387 ! peripheral nervous system disease is_a: MONDO:0003569 {source="DOID:367/inferred", source="MESH:D020431", source="MONDO:Redundant", source="NCIT:C27210"} ! cranial nerve neuropathy property_value: exactMatch DOID:367 property_value: exactMatch http://identifiers.org/mesh/D020431 property_value: exactMatch http://identifiers.org/snomedct/68982002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751937 property_value: exactMatch NCIT:C27210 property_value: excluded_subClassOf MONDO:0002639 {source="DOID:367"} [Term] id: MONDO:0002730 name: childhood kidney neoplasm def: "A kidney neoplasm that occurs during childhood." [MONDO:design_pattern] synonym: "childhood kidney neoplasm" EXACT [NCIT:C6563] synonym: "childhood kidney tumor" EXACT [NCIT:C6563] synonym: "childhood kidney tumour" EXACT OMO:0003005 [] synonym: "childhood renal neoplasm" EXACT [NCIT:C6563] synonym: "childhood renal tumor" EXACT [NCIT:C6563] synonym: "childhood renal tumour" EXACT OMO:0003005 [] synonym: "kidney neoplasm" BROAD [NCIT:C6563] synonym: "kidney neoplasm of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "paediatric kidney neoplasm" EXACT OMO:0003005 [] synonym: "paediatric kidney tumour" EXACT OMO:0003005 [] synonym: "paediatric renal neoplasm" EXACT OMO:0003005 [] synonym: "paediatric renal tumour" EXACT OMO:0003005 [] synonym: "pediatric kidney neoplasm" EXACT [MONDO:patterns/childhood, NCIT:C6563] synonym: "pediatric kidney tumor" EXACT [NCIT:C6563] synonym: "pediatric renal neoplasm" EXACT [NCIT:C6563] synonym: "pediatric renal tumor" EXACT [DOID:3675, NCIT:C6563] xref: DOID:3675 {source="MONDO:equivalentTo"} xref: NCIT:C6563 {source="DOID:3675", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1333003 {source="DOID:3675", source="NCIT:C6563", source="MONDO:equivalentTo"} is_a: EFO:0003865 {source="MONDO:Redundant", source="NCIT:C6563"} ! kidney neoplasm is_a: MONDO:0021079 {source="MONDO:Redundant", source="NCIT:C6563"} ! childhood neoplasm property_value: exactMatch DOID:3675 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333003 property_value: exactMatch NCIT:C6563 property_value: excluded_subClassOf MONDO:0002367 {source="DOID:3675"} [Term] id: MONDO:0002732 name: lung benign neoplasm def: "A non-metastasizing neoplasm that arises from the lung parenchyma or the bronchi. Representative examples include lung adenoma, lung hamartoma, and endobronchial lipoma." [NCIT:C4454] synonym: "benign lung neoplasm" EXACT [NCIT:C4454] synonym: "benign lung tumor" EXACT [NCIT:C4454] synonym: "benign lung tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of lung" EXACT [NCIT:C4454] synonym: "benign neoplasm of the lung" EXACT [NCIT:C4454] synonym: "benign tumor of lung" EXACT [NCIT:C4454] synonym: "benign tumor of the lung" EXACT [NCIT:C4454] synonym: "benign tumour of lung" EXACT OMO:0003005 [] synonym: "benign tumour of the lung" EXACT OMO:0003005 [] synonym: "lung benign neoplasm" EXACT [MONDO:patterns/location] synonym: "tumor of the lung" BROAD [DOID:3683, NCIT:C3200] synonym: "tumour of the lung" BROAD OMO:0003005 [] xref: DOID:3683 {source="MONDO:equivalentTo"} xref: NCIT:C4454 {source="MONDO:equivalentTo"} is_a: MONDO:0000382 {source="DOID:3683", source="MONDO:Entailed", source="MONDO:Redundant"} ! respiratory system benign neoplasm is_a: MONDO:0000634 {source="MONDO:Redundant", source="NCIT:C4454"} ! thoracic benign neoplasm is_a: MONDO:0021117 {source="MONDO:Redundant", source="NCIT:C4454"} ! lung neoplasm property_value: exactMatch DOID:3683 property_value: exactMatch NCIT:C4454 [Term] id: MONDO:0002742 name: cervical mucinous adenocarcinoma def: "A usually well to moderately differentiated cervical adenocarcinoma characterized by the presence of malignant glandular cells that contain significant amount of intracytoplasmic mucin." [NCIT:C36095] synonym: "cervical mucinous adenocarcinoma" EXACT [NCIT:C36095] synonym: "uterine cervix mucinous adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:3701 {source="MONDO:equivalentTo"} xref: NCIT:C36095 {source="MONDO:equivalentTo", source="DOID:3701", source="MONDO:exact-label-match"} xref: UMLS:C1332919 {source="MONDO:equivalentTo", source="DOID:3701", source="NCIT:C36095"} is_a: EFO:0000197 {source="MONDO:Redundant", source="NCIT:C36095"} ! mucinous carcinoma is_a: EFO:0001416 {source="DOID:3701", source="NCIT:C36095"} ! cervical adenocarcinoma property_value: exactMatch DOID:3701 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332919 property_value: exactMatch NCIT:C36095 [Term] id: MONDO:0002746 name: fallopian tube adenocarcinoma def: "A carcinoma that arises from glandular epithelial cells of the fallopian tube" [https://orcid.org/0000-0002-6601-2165] synonym: "adenocarcinoma of fallopian tube" EXACT [NCIT:C6265] synonym: "adenocarcinoma of the fallopian tube" EXACT [DOID:3706, NCIT:C6265] synonym: "fallopian tube adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6265] xref: DOID:3706 {source="MONDO:equivalentTo"} xref: NCIT:C6265 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3706"} xref: UMLS:C1333590 {source="NCIT:C6265", source="MONDO:equivalentTo", source="DOID:3706"} is_a: EFO:0000228 {source="DOID:3706", source="MONDO:Redundant", source="NCIT:C6265"} ! adenocarcinoma is_a: EFO:1000251 {source="DOID:3706", source="MONDO:Redundant", source="NCIT:C6265"} ! Fallopian Tube Carcinoma property_value: exactMatch DOID:3706 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333590 property_value: exactMatch NCIT:C6265 [Term] id: MONDO:0002749 name: extracranial neuroblastoma def: "A neuroblastoma arising from an anatomic site other than the brain." [NCIT:C5437] synonym: "extracranial neuroblastoma" EXACT [NCIT:C5437] xref: DOID:371 {source="MONDO:equivalentTo"} xref: NCIT:C5437 {source="MONDO:equivalentTo", source="DOID:371", source="MONDO:exact-label-match"} xref: UMLS:C1333499 {source="MONDO:equivalentTo", source="DOID:371", source="NCIT:C5437"} is_a: EFO:0000621 {source="DOID:371", source="NCIT:C5437"} ! neuroblastoma property_value: exactMatch DOID:371 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333499 property_value: exactMatch NCIT:C5437 [Term] id: MONDO:0002764 name: urethra squamous cell carcinoma def: "A well differentiated, moderately differentiated, or poorly differentiated squamous cell carcinoma that arises from the male or female urethra." [NCIT:P378] synonym: "epidermoid carcinoma of the urethra" EXACT [NCIT:C6165] synonym: "epidermoid carcinoma of urethra" EXACT [NCIT:C6165] synonym: "squamous cell carcinoma of the urethra" EXACT [NCIT:C6165] synonym: "squamous cell carcinoma of urethra" EXACT [NCIT:C6165] synonym: "urethra epidermoid carcinoma" EXACT [NCIT:C6165] synonym: "urethra squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C6165] synonym: "urethral epidermoid carcinoma" EXACT [DOID:3750, NCIT:C6165] synonym: "urethral squamous cell cancer" EXACT [NCIT:C6165] synonym: "urethral squamous cell carcinoma" EXACT [NCIT:C6165] synonym: "USCC" RELATED ABBREVIATION [ONCOTREE:USCC] xref: DOID:3750 {source="MONDO:equivalentTo"} xref: NCIT:C6165 {source="DOID:3750", source="MONDO:equivalentTo"} xref: ONCOTREE:USCC {source="MONDO:equivalentTo"} xref: UMLS:C1336890 {source="DOID:3750", source="NCIT:C6165", source="MONDO:equivalentTo"} is_a: EFO:0000707 {source="DOID:3750", source="MONDO:Redundant", source="NCIT:C6165"} ! squamous cell carcinoma is_a: MONDO:0021327 {source="MONDO:Redundant", source="NCIT:C6165"} ! carcinoma of urethra property_value: exactMatch DOID:3750 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336890 property_value: exactMatch NCIT:C6165 [Term] id: MONDO:0002775 name: anovulation def: "The absence of ovulation." [NCIT:P378] xref: DOID:3781 {source="MONDO:equivalentTo"} xref: MESH:D000858 {source="DOID:3781", source="MONDO:equivalentTo"} xref: UMLS:C0003128 {source="DOID:3781", source="MONDO:equivalentTo"} is_a: EFO:0005771 {source="DOID:3781", source="MESH:D000858"} ! ovarian disease property_value: exactMatch DOID:3781 property_value: exactMatch http://identifiers.org/mesh/D000858 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003128 [Term] id: MONDO:0002785 name: skull base neoplasm def: "A benign or malignant neoplasm that affects the skull base." [NCIT:C4676] synonym: "basicranium neoplasm" EXACT [] synonym: "basicranium neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "basicranium tumor" EXACT [MONDO:patterns/neoplasm] synonym: "basicranium tumour" EXACT OMO:0003005 [] synonym: "neoplasm of basicranium" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of skull base" EXACT [NCIT:C4676] synonym: "neoplasm of the skull base" EXACT [NCIT:C4676] synonym: "skull base cancer" RELATED [DOID:3842] synonym: "skull base neoplasm" EXACT [NCIT:C4676] synonym: "skull base tumor" EXACT [NCIT:C4676] synonym: "skull base tumour" EXACT OMO:0003005 [] synonym: "tumor of basicranium" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of skull base" EXACT [NCIT:C4676] synonym: "tumor of the skull base" EXACT [NCIT:C4676] synonym: "tumors of skull base" EXACT [DOID:3842, NCIT:C4676] synonym: "tumour of basicranium" EXACT OMO:0003005 [] synonym: "tumour of skull base" EXACT OMO:0003005 [] synonym: "tumour of the skull base" EXACT OMO:0003005 [] synonym: "tumours of skull base" EXACT OMO:0003005 [] xref: DOID:3842 {source="MONDO:equivalentTo"} xref: MESH:D019292 {source="MONDO:equivalentTo", source="DOID:3842"} xref: NCIT:C4676 {source="MONDO:equivalentTo", source="DOID:3842", source="MONDO:exact-label-match"} xref: UMLS:C0376527 {source="MONDO:equivalentTo", source="DOID:3842", source="NCIT:C4676"} is_a: MONDO:0024653 ! skull neoplasm property_value: exactMatch DOID:3842 property_value: exactMatch http://identifiers.org/mesh/D019292 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0376527 property_value: exactMatch NCIT:C4676 [Term] id: MONDO:0002786 name: diencephalic cancer def: "A cancer involving a diencephalon." [MONDO:patterns/cancer] synonym: "cancer of diencephalon" EXACT [MONDO:patterns/cancer] synonym: "diencephalic neoplasm" RELATED [DOID:3843] synonym: "diencephalon cancer" EXACT [MONDO:patterns/location] synonym: "malignant diencephalic neoplasm" EXACT [DOID:3843, NCIT:C5126] synonym: "malignant diencephalic neoplasms" EXACT [NCIT:C5126] synonym: "malignant diencephalic tumor" EXACT [DOID:3843, NCIT:C5126] synonym: "malignant diencephalic tumour" EXACT OMO:0003005 [] synonym: "malignant diencephalon neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of diencephalon" EXACT [MONDO:patterns/cancer] synonym: "tumor of diencephalon" EXACT [DOID:3843, NCIT:C5125] synonym: "tumour of diencephalon" EXACT OMO:0003005 [] xref: DOID:3843 {source="MONDO:equivalentTo"} xref: NCIT:C5126 {source="DOID:3843", source="MONDO:equivalentTo"} xref: UMLS:C1334576 {source="DOID:3843", source="MONDO:equivalentTo", source="NCIT:C5126"} is_a: MONDO:0002071 {source="DOID:3843", source="NCIT:C5126"} ! supratentorial cancer property_value: exactMatch DOID:3843 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334576 property_value: exactMatch NCIT:C5126 [Term] id: MONDO:0002798 name: childhood central nervous system primitive neuroectodermal neoplasm def: "A central nervous system embryonal tumor, not otherwise specified that occurs in childhood." [NCIT:C5961] synonym: "Central nervous system embryonal tumor, NOS" EXACT [NCIT:C5961] synonym: "central nervous system primitive neuroectodermal neoplasm of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "childhood central nervous system PNET" EXACT [NCIT:C5961] synonym: "childhood central nervous system primitive neuroectodermal neoplasm" EXACT [NCIT:C5961] synonym: "childhood central nervous system primitive neuroectodermal tumor" EXACT [NCIT:C5961] synonym: "childhood central nervous system primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "childhood central primitive neuroectodermal neoplasm" EXACT [NCIT:C5961] synonym: "childhood central primitive neuroectodermal tumor" EXACT [NCIT:C5961] synonym: "childhood central primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "childhood CNS PNET" EXACT [NCIT:C5961] synonym: "childhood CNS primitive neuroectodermal neoplasm" EXACT [NCIT:C5961] synonym: "childhood CNS primitive neuroectodermal tumor" EXACT [NCIT:C5961] synonym: "childhood CNS primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "paediatric central nervous system primitive neuroectodermal neoplasm" EXACT OMO:0003005 [] synonym: "paediatric central nervous system primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "paediatric central primitive neuroectodermal neoplasm" EXACT OMO:0003005 [] synonym: "paediatric central primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "paediatric CNS PNET" EXACT OMO:0003005 [] synonym: "paediatric CNS primitive neuroectodermal neoplasm" EXACT OMO:0003005 [] synonym: "paediatric CNS primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "pediatric central nervous system primitive neuroectodermal neoplasm" EXACT [MONDO:patterns/childhood, NCIT:C5961] synonym: "pediatric central nervous system primitive neuroectodermal tumor" EXACT [NCIT:C5961] synonym: "pediatric central primitive neuroectodermal neoplasm" EXACT [NCIT:C5961] synonym: "pediatric central primitive neuroectodermal tumor" EXACT [NCIT:C5961] synonym: "pediatric CNS PNET" EXACT [DOID:3870, NCIT:C5961] synonym: "pediatric CNS primitive neuroectodermal neoplasm" EXACT [NCIT:C5961] synonym: "pediatric CNS primitive neuroectodermal tumor" EXACT [NCIT:C5961] xref: DOID:3870 {source="MONDO:equivalentTo"} xref: NCIT:C5961 {source="DOID:3870", source="MONDO:equivalentTo"} xref: UMLS:C1332957 {source="DOID:3870", source="MONDO:equivalentTo"} is_a: EFO:1000654 ! childhood cancer is_a: MONDO:0000640 {source="DOID:3870", source="MONDO:Redundant", source="NCIT:C5961"} ! central nervous system primitive neuroectodermal neoplasm property_value: exactMatch DOID:3870 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332957 property_value: exactMatch NCIT:C5961 [Term] id: MONDO:0002805 name: hidradenoma def: "A benign epithelial neoplasm arising from the sweat glands. Variants include the clear cell and nodular hidradenoma." [NCIT:C7563] synonym: "acrospiroma" RELATED [NCIT:C7563] synonym: "eccrine acrospiroma" RELATED [NCIT:C7563] synonym: "hidradenoma" EXACT [NCIT:C7563] synonym: "hidradenoma of skin" EXACT [DOID:3896] synonym: "sweat gland adenoma" RELATED [DOID:3896, NCIT:C7560] synonym: "syringoadenoma" EXACT [DOID:3896] xref: DOID:3896 {source="MONDO:equivalentTo"} xref: NCIT:C7563 {source="DOID:3896", source="MONDO:equivalentTo"} xref: SCTID:400099008 {source="MONDO:relatedTo", source="DOID:3896"} is_a: MONDO:0021110 {source="NCIT:C7563"} ! sweat gland adenoma property_value: exactMatch DOID:3896 property_value: exactMatch NCIT:C7563 [Term] id: MONDO:0002812 name: infectious otitis interna def: "Inflammation of the anatomical structures of the inner ear secondary to an infectious process. Symptoms include severe vertigo, nausea, vomiting, anxiety, and pain. Viral etiology is most common, and recent history of an upper respiratory infection is common. In rare cases an infection of the middle ear can spread to the inner ear, resulting in a bacterial or fungal etiology." [NCIT:C27339] synonym: "infectious labyrinthitis" EXACT [MONDO:cjm] synonym: "infectious otitis interna" EXACT [NCIT:C27339] synonym: "inner Ear infection" EXACT [NCIT:C27339] synonym: "inner ear infection" EXACT [DOID:3930] synonym: "internal Ear infection" EXACT [NCIT:C27339] xref: NCIT:C27339 {source="MONDO:equivalentObsolete"} xref: UMLS:C1168225 {source="MONDO:equivalentTo", source="NCIT:C27339"} is_a: EFO:0009604 ! labyrinthitis is_a: MONDO:0021666 {source="MONDO:Entailed", source="NCIT:C27339"} ! ear infection is_a: MONDO:0021669 ! post-infectious disorder intersection_of: EFO:0009604 ! labyrinthitis intersection_of: disease_arises_from_feature EFO:0005741 ! infectious disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1168225 [Term] id: MONDO:0002813 name: lipomatous cancer def: "A malignant mesenchymal neoplasm arising from adipocytes." [NCIT:C4501] synonym: "adipose tissue cancer" EXACT [MONDO:patterns/location] synonym: "cancer of adipose tissue" EXACT [MONDO:patterns/cancer] synonym: "malignant adipose tissue neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4501] synonym: "malignant adipose tissue tumor" EXACT [NCIT:C4501] synonym: "malignant adipose tissue tumour" EXACT OMO:0003005 [] synonym: "malignant lipomatous neoplasm" EXACT [NCIT:C4501] synonym: "malignant lipomatous tumor" EXACT [NCIT:C4501] synonym: "malignant lipomatous tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of adipose tissue" EXACT [MONDO:patterns/cancer, NCIT:C4501] synonym: "malignant neoplasm of the adipose tissue" EXACT [NCIT:C4501] synonym: "malignant tumor of adipose tissue" EXACT [DOID:3939, NCIT:C4501] synonym: "malignant tumor of the adipose tissue" EXACT [NCIT:C4501] synonym: "malignant tumour of adipose tissue" EXACT OMO:0003005 [] synonym: "malignant tumour of the adipose tissue" EXACT OMO:0003005 [] xref: DOID:3939 {source="MONDO:equivalentObsolete"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4501 {source="MONDO:equivalentObsolete", source="DOID:3939"} xref: SCTID:254828009 {source="MONDO:equivalentTo", source="DOID:3939"} xref: UMLS:C0346117 {source="MONDO:equivalentTo", source="NCIT:C4501", source="DOID:3939"} is_a: MONDO:0004992 ! cancer is_a: MONDO:0021354 {source="MONDO:Redundant", source="NCIT:C4501"} ! tumor of adipose tissue property_value: exactMatch http://identifiers.org/snomedct/254828009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346117 [Term] id: MONDO:0002814 name: adrenal carcinoma def: "A carcinoma involving a adrenal gland." [MONDO:patterns/carcinoma] synonym: "adrenal gland carcinoma" EXACT [MONDO:patterns/location] synonym: "carcinoma of adrenal gland" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of the adrenal gland" EXACT [DOID:3950, NCIT:C9324] xref: DOID:3950 {source="MONDO:equivalentTo"} xref: SCTID:255035007 {source="MONDO:relatedTo", source="DOID:3950"} is_a: MONDO:0001502 ! retroperitoneum carcinoma is_a: MONDO:0002817 {source="DOID:3950", source="MONDO:Entailed", source="MONDO:Redundant"} ! adrenal gland cancer property_value: exactMatch DOID:3950 [Term] id: MONDO:0002816 name: adrenal cortex disorder def: "A disease involving the adrenal cortex." [https://orcid.org/0000-0002-6601-2165] synonym: "adrenal cortex disease" EXACT [MONDO:patterns/location] synonym: "adrenal cortex disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "disease of adrenal cortex" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of adrenal cortex" EXACT [] synonym: "disorder of adrenal cortex" EXACT [MONDO:patterns/location_top] xref: DOID:3952 {source="MONDO:equivalentTo"} xref: MESH:D000303 {source="MONDO:equivalentTo", source="DOID:3952"} xref: SCTID:129636003 {source="MONDO:equivalentTo", source="DOID:3952"} xref: UMLS:C0001614 {source="MONDO:equivalentTo", source="DOID:3952"} is_a: EFO:0005539 {source="DOID:3952", source="MESH:D000303", source="MONDO:Redundant"} ! adrenal gland disease property_value: exactMatch DOID:3952 property_value: exactMatch http://identifiers.org/mesh/D000303 property_value: exactMatch http://identifiers.org/snomedct/129636003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001614 [Term] id: MONDO:0002817 name: adrenal gland cancer def: "A malignant neoplasm involving the adrenal gland" [https://orcid.org/0000-0002-6601-2165] subset: gard_rare synonym: "adrenal cancer" EXACT [DOID:3953, NCIT:C9338] synonym: "adrenal gland cancer" EXACT [MONDO:patterns/location] synonym: "adrenal neoplasm" BROAD [DOID:3953] synonym: "cancer of adrenal gland" EXACT [MONDO:patterns/cancer] synonym: "malignant adrenal gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9338] synonym: "malignant adrenal gland tumor" EXACT [NCIT:C9338] synonym: "malignant adrenal gland tumour" EXACT OMO:0003005 [] synonym: "malignant adrenal neoplasm" EXACT [NCIT:C9338] synonym: "malignant adrenal tumor" EXACT [DOID:3953, NCIT:C9338] synonym: "malignant adrenal tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of adrenal gland" EXACT [DOID:3953, ICD9CM:194.0, MONDO:patterns/cancer, NCIT:C9338] synonym: "malignant neoplasm of the adrenal gland" EXACT [NCIT:C9338] synonym: "malignant tumor of adrenal gland" EXACT [NCIT:C9338] synonym: "malignant tumor of the adrenal gland" EXACT [NCIT:C9338] synonym: "malignant tumour of adrenal gland" EXACT OMO:0003005 [] synonym: "malignant tumour of the adrenal gland" EXACT OMO:0003005 [] synonym: "tumor of the adrenal gland" BROAD [DOID:3953, NCIT:C2859] synonym: "tumour of the adrenal gland" BROAD OMO:0003005 [] xref: DOID:3953 {source="MONDO:equivalentTo"} xref: ICD9:194.0 {source="DOID:3953"} xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D000310 {source="DOID:3953", source="MONDO:equivalentTo"} xref: NCIT:C9338 {source="DOID:3953", source="MONDO:equivalentTo"} xref: SCTID:127021009 {source="DOID:3953", source="MONDO:equivalentTo"} is_a: EFO:0003850 {source="MONDO:Redundant", source="NCIT:C9338"} ! adrenal gland neoplasm is_a: EFO:0007466 {source="NCIT:C9338"} ! retroperitoneal cancer is_a: MONDO:0021069 {source="DOID:3953", source="MESH:D000310", source="MONDO:Redundant"} ! malignant endocrine neoplasm property_value: exactMatch DOID:3953 property_value: exactMatch http://identifiers.org/mesh/D000310 property_value: exactMatch http://identifiers.org/snomedct/127021009 property_value: exactMatch NCIT:C9338 [Term] id: MONDO:0002824 name: extrinsic cardiomyopathy def: "A cardiomyopathy that is not due to abnormalities in heart muscle cells." [https://www.emedicinehealth.com/cardiomyopathy/article_em.htm, Wikipedia:Cardiomyopathy] synonym: "secondary cardiomyopathy" EXACT [Wikipedia:Cardiomyopathy] xref: DOID:3978 {source="MONDO:equivalentTo"} xref: ICD9:425.8 {source="DOID:3978"} xref: SCTID:195029002 {source="MONDO:equivalentTo"} is_a: EFO:0000318 {source="DOID:3978"} ! cardiomyopathy property_value: exactMatch DOID:3978 property_value: exactMatch http://identifiers.org/snomedct/195029002 [Term] id: MONDO:0002836 name: urethra transitional cell carcinoma def: "A transitional cell carcinoma that arises from the male or female urethra." [NCIT:P378] synonym: "transitional cell carcinoma of the urethra" EXACT [NCIT:C6166] synonym: "transitional cell carcinoma of urethra" EXACT [NCIT:C6166] synonym: "UCU" RELATED ABBREVIATION [ONCOTREE:UCU] synonym: "urethra transitional cell carcinoma" EXACT [MONDO:patterns/location] synonym: "urethral transitional cell carcinoma" EXACT [DOID:4013, NCIT:C6166] synonym: "urethral urothelial cancer" EXACT [NCIT:C6166] synonym: "urethral urothelial carcinoma" EXACT [NCIT:C6166] xref: DOID:4013 {source="MONDO:equivalentTo"} xref: NCIT:C6166 {source="DOID:4013", source="MONDO:equivalentTo"} xref: ONCOTREE:UCU {source="MONDO:equivalentTo"} xref: UMLS:C0863015 {source="DOID:4013", source="NCIT:C6166", source="MONDO:equivalentTo"} is_a: EFO:0008528 ! urothelial carcinoma is_a: MONDO:0021327 {source="MONDO:Redundant", source="NCIT:C6166"} ! carcinoma of urethra property_value: exactMatch DOID:4013 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0863015 property_value: exactMatch NCIT:C6166 [Term] id: MONDO:0002837 name: sarcomatoid transitional cell carcinoma def: "A poorly differentiated transitional cell carcinoma characterized by the presence of malignant cells with spindle cell morphologic features." [NCIT:C4120] synonym: "sarcomatoid transitional cell carcinoma" EXACT [NCIT:C4120] synonym: "transitional cell carcinoma, sarcomatoid" EXACT [DOID:4014] synonym: "transitional cell spindle cell carcinoma" EXACT [NCIT:C4120] synonym: "transitional spindle cell carcinoma" EXACT [DOID:4014, NCIT:C4120] xref: DOID:4014 {source="MONDO:equivalentTo"} xref: ICDO:8122/3 {source="NCIT:C4120"} xref: NCIT:C4120 {source="DOID:4014", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C0334271 {source="NCIT:C4120", source="DOID:4014", source="MONDO:equivalentTo"} is_a: EFO:1000520 {source="NCIT:C4120"} ! Sarcomatoid Carcinoma is_a: EFO:1000601 {source="DOID:4014", source="NCIT:C4120"} ! Transitional Cell Carcinoma property_value: exactMatch DOID:4014 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334271 property_value: exactMatch NCIT:C4120 [Term] id: MONDO:0002839 name: leather-bottle stomach def: "A cancer-related condition in which the gastric wall becomes thickened and rubbery (leather-bottle stomach). It is most often associated with diffuse gastric adenocarcinomas." [https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/42, NCIT:C3190] synonym: "linitis plastica" EXACT [DOID:4023] synonym: "linitis plastica (morphologic abnormality)" EXACT [DOID:4023] xref: DOID:4023 {source="MONDO:equivalentTo"} xref: ICDO:8142/3 {source="NCIT:C3190"} xref: MESH:D008039 {source="DOID:4023", source="MONDO:equivalentTo"} xref: NCIT:C3190 {source="DOID:4023", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C0023743 {source="DOID:4023", source="MONDO:equivalentTo", source="NCIT:C3190"} is_a: EFO:0009608 ! stomach disease is_a: MONDO:0045054 {source="NCIT:C3190"} ! cancer-related condition property_value: exactMatch DOID:4023 property_value: exactMatch http://identifiers.org/mesh/D008039 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023743 property_value: exactMatch NCIT:C3190 property_value: excluded_subClassOf MONDO:0005017 {source="DOID:4023"} [Term] id: MONDO:0002852 name: mediastinum sarcoma def: "A rare sarcoma that arises from the mediastinum. Examples include liposarcoma, leiomyosarcoma, and angiosarcoma." [NCIT:P378] synonym: "mediastinal sarcoma" EXACT [NCIT:C6606] synonym: "mediastinum sarcoma" EXACT [MONDO:patterns/location] synonym: "sarcoma of mediastinum" EXACT [DOID:4050, MONDO:patterns/sarcoma, NCIT:C6606] synonym: "sarcoma of the mediastinum" EXACT [NCIT:C6606] xref: DOID:4050 {source="MONDO:equivalentTo"} xref: NCIT:C6606 {source="MONDO:equivalentTo", source="DOID:4050"} xref: UMLS:C1334678 {source="MONDO:equivalentTo", source="DOID:4050", source="NCIT:C6606"} is_a: EFO:1001968 {source="NCIT:C6606"} ! soft tissue sarcoma is_a: MONDO:0037743 ! mediastinal soft tissue cancer property_value: exactMatch DOID:4050 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334678 property_value: exactMatch NCIT:C6606 [Term] id: MONDO:0002854 name: prostate sarcoma def: "A rare malignant soft tissue neoplasm that arises from the prostate gland. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and stromal sarcoma." [NCIT:C7731] synonym: "prostate gland sarcoma" EXACT [MONDO:patterns/location] synonym: "prostate sarcoma" EXACT [NCIT:C7731] synonym: "sarcoma of prostate" EXACT [NCIT:C7731] synonym: "sarcoma of prostate gland" EXACT [MONDO:patterns/sarcoma] synonym: "sarcoma of the prostate" EXACT [DOID:4054, NCIT:C7731] xref: DOID:4054 {source="MONDO:equivalentTo"} xref: NCIT:C7731 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4054"} xref: UMLS:C0238393 {source="MONDO:equivalentTo", source="NCIT:C7731", source="DOID:4054"} is_a: EFO:1001968 {source="NCIT:C7731"} ! soft tissue sarcoma is_a: MONDO:0008315 {source="DOID:4054", source="MONDO:Redundant", source="NCIT:C7731"} ! prostate cancer property_value: exactMatch DOID:4054 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238393 property_value: exactMatch NCIT:C7731 [Term] id: MONDO:0002855 name: ectomesenchymoma def: "An aggressive malignant mesenchymal neoplasm of the nervous system or soft tissues. It is characterized by the presence of a sarcomatous component (most often rhabdomyosarcoma) and a ganglionic or a neuroectodermal component." [NCIT:C4716] synonym: "ectomesenchymoma" EXACT [NCIT:C4716] synonym: "malignant ectomesenchymoma" EXACT [NCIT:C4716] synonym: "rhabdomyosarcoma with ganglionic differentiation" EXACT [DOID:4055] synonym: "rhabdomyosarcoma with ganglionic differentiation (morphologic abnormality)" EXACT [DOID:4055] synonym: "sarcoma with ganglionic or neuroectodermal differentiation" EXACT [NCIT:C4716] xref: DOID:4055 {source="MONDO:equivalentTo"} xref: ICDO:8921/3 {source="NCIT:C4716"} xref: NCIT:C4716 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4055"} xref: UMLS:C0431111 {source="NCIT:C4716", source="MONDO:equivalentTo", source="DOID:4055"} is_a: EFO:0000691 {source="NCIT:C4716/inferred"} ! sarcoma is_a: EFO:0007392 ! nervous system cancer property_value: exactMatch DOID:4055 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431111 property_value: exactMatch NCIT:C4716 property_value: excluded_subClassOf MONDO:0003244 {source="DOID:4055"} [Term] id: MONDO:0002863 name: rhabdomyosarcoma with mixed embryonal and alveolar features def: "A rhabdomyosarcoma composed of embryonic and alveolar components. It is characterized by the presence of spindle cells with myoblastic differentiation, a myxoid stroma, and fibrous septa. These tumors were previously considered variants of alveolar rhabdomyosarcoma. The lack of PAX3-FOXO1 fusions in most of these tumors suggests that are biologically and clinically related to embryonal rhabdomyosarcoma." [NCIT:C4259] synonym: "mixed alveolar rhabdomyosarcoma" EXACT [NCIT:C4259] synonym: "mixed embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma" EXACT [DOID:4065] synonym: "mixed type alveolar rhabdomyosarcoma" EXACT [NCIT:C4259] synonym: "mixed type rhabdomyosarcoma" EXACT [DOID:4065, NCIT:C4259] synonym: "rhabdomyosarcoma with mixed embryonal and alveolar features" EXACT [NCIT:C4259] xref: DOID:4065 {source="MONDO:equivalentTo"} xref: ICDO:8902/3 {source="NCIT:C4259"} xref: NCIT:C4259 {source="MONDO:equivalentTo"} xref: UMLS:C0334481 {source="MONDO:equivalentTo", source="DOID:4065"} xref: UMLS:C1709053 {source="MONDO:equivalentTo", source="NCIT:C4259"} is_a: EFO:0002918 {source="DOID:4065", source="NCIT:C4259"} ! rhabdomyosarcoma property_value: exactMatch DOID:4065 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334481 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709053 property_value: exactMatch NCIT:C4259 [Term] id: MONDO:0002866 name: duodenal disorder def: "Pathological conditions in the duodenum region of the small intestine (intestine, small)." [MESH:D004378] synonym: "disease of duodenum" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of duodenum" EXACT [] synonym: "disorder of duodenum" EXACT [MONDO:patterns/location_top] synonym: "duodenum disease" EXACT [MONDO:patterns/location] synonym: "duodenum disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "duodenum disorder" EXACT [DOID:4072] xref: DOID:4072 {source="MONDO:equivalentTo"} xref: ICD9:537.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:537.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D004378 {source="MONDO:equivalentTo", source="DOID:4072"} xref: SCTID:52182008 {source="MONDO:equivalentTo", source="DOID:4072"} xref: UMLS:C0013289 {source="MONDO:equivalentTo", source="DOID:4072"} is_a: MONDO:0024635 ! small intestine disorder property_value: exactMatch DOID:4072 property_value: exactMatch http://identifiers.org/mesh/D004378 property_value: exactMatch http://identifiers.org/snomedct/52182008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013289 [Term] id: MONDO:0002871 name: testicular trophoblastic tumor def: "A tumor that arises from the testis and is composed of neoplastic trophoblastic cells. The vast majority of cases are choriocarcinomas." [NCIT:C39934] synonym: "testicular trophoblastic tumor" EXACT [NCIT:C39934] xref: DOID:4084 {source="MONDO:equivalentTo"} xref: NCIT:C39934 {source="MONDO:equivalentTo", source="DOID:4084", source="MONDO:exact-label-match"} xref: UMLS:C1515301 {source="MONDO:equivalentTo", source="DOID:4084", source="NCIT:C39934"} is_a: EFO:1000570 {source="NCIT:C39934"} ! Testicular Non-Seminomatous Germ Cell Tumor is_a: MONDO:0002872 {source="DOID:4084", source="MONDO:Redundant", source="NCIT:C39934"} ! trophoblastic neoplasm is_a: MONDO:0002874 {source="NCIT:C39934"} ! testicular pure germ cell tumor property_value: exactMatch DOID:4084 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1515301 property_value: exactMatch NCIT:C39934 [Term] id: MONDO:0002872 name: trophoblastic neoplasm def: "A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells. Representative examples include hydatidiform mole and choriocarcinoma." [NCIT:C3422] synonym: "neoplasm of trophoblast" EXACT [MONDO:patterns/neoplasm] synonym: "trophoblast neoplasm" EXACT [] synonym: "trophoblast neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "trophoblast tumor" EXACT [MONDO:patterns/neoplasm] synonym: "trophoblast tumour" EXACT OMO:0003005 [] synonym: "trophoblastic neoplasm" EXACT [NCIT:C3422] synonym: "trophoblastic neoplasm (morphologic abnormality)" EXACT [DOID:4085] synonym: "trophoblastic neoplasm NOS (morphologic abnormality)" EXACT [DOID:4085] synonym: "trophoblastic neoplasms" EXACT [NCIT:C3422] synonym: "trophoblastic tumor" EXACT [DOID:4085, NCIT:C3422] synonym: "trophoblastic tumor (qualifier value)" EXACT [DOID:4085] synonym: "trophoblastic tumour" EXACT OMO:0003005 [] synonym: "trophoblastic tumour (qualifier value)" EXACT OMO:0003005 [] synonym: "tumor of trophoblast" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of trophoblast" EXACT OMO:0003005 [] xref: DOID:4085 {source="MONDO:equivalentTo"} xref: MESH:D014328 {source="MONDO:equivalentTo", source="DOID:4085"} xref: NCIT:C3422 {source="MONDO:equivalentTo"} xref: UMLS:C0041182 {source="MONDO:equivalentTo", source="NCIT:C3422", source="DOID:4085"} is_a: EFO:0000616 ! neoplasm property_value: exactMatch DOID:4085 property_value: exactMatch http://identifiers.org/mesh/D014328 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041182 property_value: exactMatch NCIT:C3422 property_value: excluded_subClassOf MONDO:0002510 {source="DOID:4085", source="MESH:D014328"} [Term] id: MONDO:0002874 name: testicular pure germ cell tumor def: "A germ cell tumor that arises from the testis and is characterized by the presence of one histologic component. This category includes seminoma, teratoma, embryonal carcinoma, yolk sac tumor, and trophoblastic tumor." [NCIT:C39915] synonym: "testicular Pure germ cell tumor" EXACT [NCIT:C39915] synonym: "testicular Pure germ cell tumour" EXACT OMO:0003005 [] xref: DOID:4087 {source="MONDO:equivalentTo"} xref: NCIT:C39915 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4087"} xref: UMLS:C1514608 {source="MONDO:equivalentTo", source="NCIT:C39915", source="DOID:4087"} is_a: EFO:1000566 {source="DOID:4087", source="NCIT:C39915"} ! Testicular Germ Cell Tumor property_value: exactMatch DOID:4087 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1514608 property_value: exactMatch NCIT:C39915 [Term] id: MONDO:0002875 name: parasitic ectoparasitic infectious disease def: "Infestations by parasites which live on, or burrow into, the surface of their host's epidermis. Most ectoparasites are arthropods." [MESH:D004478] synonym: "ectoparasitic infestation" RELATED [MESH:D004478] synonym: "ectoparasitism" EXACT [DOID:4110] synonym: "infestation, ectoparasitic" RELATED [MESH:D004478] synonym: "Infestations, ectoparasitic" RELATED [MESH:D004478] xref: DOID:4110 {source="MONDO:equivalentTo"} xref: ICD10CM:B85-B89 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: MESH:D004478 {source="MONDO:equivalentTo", source="DOID:4110"} xref: UMLS:C0013578 {source="MONDO:equivalentTo", source="DOID:4110"} is_a: MONDO:0024610 {source="MESH:D004478"} ! parasitic skin disorder property_value: exactMatch DOID:4110 property_value: exactMatch http://identifiers.org/mesh/D004478 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013578 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B85-B89 [Term] id: MONDO:0002876 name: cervical adenosarcoma def: "A rare malignant mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign epithelial elements." [NCIT:C40229] subset: ordo_disease {source="Orphanet:213792"} synonym: "adenosarcoma of the cervix uteri" EXACT [MONDO:0016279] synonym: "adenosarcoma of uterine cervix" EXACT [MONDO:design_pattern] synonym: "cervical adenosarcoma" EXACT [NCIT:C40229, Orphanet:213792] synonym: "cervical Muellerian adenosarcoma" EXACT [DOID:4111] synonym: "cervical Mullerian adenosarcoma" EXACT [DOID:4111, NCIT:C40229] synonym: "cervical Müllerian adenosarcoma" EXACT [NCIT:C40229] synonym: "uterine cervix adenosarcoma" EXACT [MONDO:patterns/location] xref: DOID:4111 {source="MONDO:equivalentTo"} xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213792/btnt", source="Orphanet:213792"} xref: NCIT:C40229 {source="DOID:4111", source="MONDO:equivalentTo"} xref: Orphanet:213792 {source="MONDO:equivalentTo"} xref: SCTID:764847000 {source="MONDO:equivalentTo"} xref: UMLS:C1516426 {source="DOID:4111", source="NCIT:C40229", source="MONDO:equivalentTo"} xref: UMLS:CN201069 {source="MONDO:equivalentTo"} is_a: EFO:0007134 {source="MONDO:Redundant", source="NCIT:C40229"} ! adenosarcoma is_a: MONDO:0016277 {source="Orphanet:213792"} ! malignant mixed epithelial and mesenchymal tumor of cervix uteri property_value: exactMatch DOID:4111 property_value: exactMatch http://identifiers.org/snomedct/764847000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516426 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201069 property_value: exactMatch NCIT:C40229 property_value: exactMatch Orphanet:213792 property_value: excluded_subClassOf MONDO:0002877 {source="DOID:4111"} [Term] id: MONDO:0002877 name: cervical carcinosarcoma def: "A mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign or malignant epithelial elements. This category includes adenosarcoma and carcinosarcoma." [NCIT:P378] subset: ordo_disease {source="Orphanet:213787"} synonym: "carcinosarcoma of the cervix uteri" EXACT [MONDO:0016278] synonym: "cervical carcinosarcoma" EXACT [NCIT:C36097, Orphanet:213787] synonym: "cervical malignant mixed mesodermal (Mullerian) tumor" EXACT [NCIT:C36097] synonym: "cervical malignant mixed mesodermal (Mullerian) tumour" EXACT OMO:0003005 [] synonym: "cervical malignant mixed mesodermal (Müllerian) tumor" EXACT [NCIT:C36097] synonym: "cervical malignant mixed mesodermal (Müllerian) tumour" EXACT OMO:0003005 [] synonym: "cervical malignant mixed mesodermal mullerian tumor" EXACT [DOID:4112] synonym: "cervical malignant mixed mesodermal mullerian tumour" EXACT OMO:0003005 [] synonym: "cervical malignant mixed Mullerian tumor" EXACT [DOID:4112] synonym: "cervical malignant mixed Mullerian tumour" EXACT OMO:0003005 [] synonym: "cervical malignant Mullerian mixed tumor" EXACT [Orphanet:213787] synonym: "cervical malignant Mullerian mixed tumour" EXACT OMO:0003005 [] synonym: "cervical malignant Müllerian mixed tumor" EXACT [Orphanet:213787] synonym: "cervical malignant Müllerian mixed tumour" EXACT OMO:0003005 [] synonym: "cervical mixed epithelial and mesenchymal neoplasm" EXACT [DOID:4112] synonym: "malignant Mullerian mixed tumor of the cervix uteri" EXACT [Orphanet:213787] synonym: "malignant Mullerian mixed tumour of the cervix uteri" EXACT OMO:0003005 [] synonym: "malignant Müllerian mixed tumor of the cervix uteri" EXACT [Orphanet:213787] synonym: "malignant Müllerian mixed tumour of the cervix uteri" EXACT OMO:0003005 [] synonym: "uterine cervix carcinosarcoma" EXACT [MONDO:patterns/location] xref: DOID:4112 {source="MONDO:equivalentTo"} xref: NCIT:C36097 {source="DOID:4112", source="MONDO:equivalentTo"} xref: Orphanet:213787 {source="MONDO:equivalentTo"} xref: SCTID:764951002 {source="MONDO:equivalentTo"} xref: UMLS:C1332917 {source="DOID:4112", source="NCIT:C36097", source="MONDO:equivalentTo"} xref: UMLS:C1516420 {source="DOID:4112", source="MONDO:equivalentTo"} xref: UMLS:CN201068 {source="MONDO:equivalentTo"} is_a: EFO:1000613 {source="MONDO:Redundant", source="NCIT:C36097"} ! Uterine Carcinosarcoma is_a: MONDO:0016277 {source="Orphanet:213787"} ! malignant mixed epithelial and mesenchymal tumor of cervix uteri property_value: exactMatch DOID:4112 property_value: exactMatch http://identifiers.org/snomedct/764951002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332917 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516420 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201068 property_value: exactMatch NCIT:C36097 property_value: exactMatch Orphanet:213787 [Term] id: MONDO:0002878 name: uterine corpus adenosarcoma def: "A primary polypoid malignant neoplasm of the uterine corpus characterized by the presence of a sarcomatous mesenchymal component and a benign epithelial component. Patients usually present with abnormal vaginal bleeding. It is considered a low grade malignant neoplasm and may recur following resection." [NCIT:C6336] subset: ordo_disease {source="Orphanet:213600"} synonym: "adenosarcoma of body of uterus" EXACT [NCIT:C6336] synonym: "adenosarcoma of the body of uterus" EXACT [NCIT:C6336] synonym: "adenosarcoma of the corpus uteri" EXACT [MONDO:0016257] synonym: "adenosarcoma of the uterine body" EXACT [NCIT:C6336] synonym: "adenosarcoma of the uterine corpus" EXACT [NCIT:C6336] synonym: "adenosarcoma of the uterus" RELATED [GARD:0009636] synonym: "adenosarcoma of uterine body" EXACT [NCIT:C6336] synonym: "adenosarcoma of uterine corpus" EXACT [DOID:4113, NCIT:C6336] synonym: "body of uterus adenosarcoma" EXACT [MONDO:patterns/location, NCIT:C6336] synonym: "Mullerian adenosarcoma of the uterus" RELATED [MESH:C538232] synonym: "uterine adenosarcoma" RELATED [MESH:C538232] synonym: "uterine body adenosarcoma" EXACT [NCIT:C6336] synonym: "uterine corpus adenosarcoma" EXACT [NCIT:C6336] synonym: "uterine corpus Mullerian adenosarcoma" EXACT [NCIT:C6336] synonym: "uterine corpus mullerian adenosarcoma" EXACT [DOID:4113, NCIT:C6336] synonym: "uterine corpus Müllerian adenosarcoma" EXACT [NCIT:C6336] xref: DOID:4113 {source="MONDO:equivalentTo"} xref: MESH:C538232 {source="MONDO:equivalentTo"} xref: NCIT:C6336 {source="DOID:4113", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:UAS {source="MONDO:equivalentTo"} xref: Orphanet:213600 {source="MONDO:equivalentTo"} xref: UMLS:C1336917 {source="DOID:4113", source="MONDO:equivalentTo", source="NCIT:C6336"} xref: UMLS:CN201046 {source="MONDO:equivalentObsolete"} is_a: EFO:0007134 {source="DOID:4113", source="MESH:C538232", source="MONDO:Redundant", source="NCIT:C6336"} ! adenosarcoma is_a: MONDO:0002879 {source="DOID:4113", source="MONDO:Redundant", source="NCIT:C6336"} ! uterine body mixed cancer property_value: exactMatch DOID:4113 property_value: exactMatch http://identifiers.org/mesh/C538232 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336917 property_value: exactMatch NCIT:C6336 property_value: exactMatch Orphanet:213600 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9636/adenosarcoma-of-the-uterus xsd:anyURI {source="GARD:0009636"} [Term] id: MONDO:0002879 name: uterine body mixed cancer def: "A primary malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. This category includes carcinosarcoma, carcinofibroma, and adenosarcoma." [NCIT:P378] synonym: "malignant body of uterus mixed neoplasm" EXACT [NCIT:C6311] synonym: "malignant body of uterus mixed tumor" EXACT [NCIT:C6311] synonym: "malignant body of uterus mixed tumour" EXACT OMO:0003005 [] synonym: "malignant corpus uteri mixed neoplasm" EXACT [NCIT:C6311] synonym: "malignant corpus uteri mixed tumor" EXACT [NCIT:C6311] synonym: "malignant corpus uteri mixed tumour" EXACT OMO:0003005 [] synonym: "malignant mixed neoplasm of body of uterus" EXACT [NCIT:C6311] synonym: "malignant mixed neoplasm of corpus uteri" EXACT [NCIT:C6311] synonym: "malignant mixed neoplasm of the body of uterus" EXACT [NCIT:C6311] synonym: "malignant mixed neoplasm of the corpus uteri" EXACT [NCIT:C6311] synonym: "malignant mixed neoplasm of the uterine body" EXACT [NCIT:C6311] synonym: "malignant mixed neoplasm of the uterine corpus" EXACT [NCIT:C6311] synonym: "malignant mixed neoplasm of uterine body" EXACT [NCIT:C6311] synonym: "malignant mixed neoplasm of uterine corpus" EXACT [NCIT:C6311] synonym: "malignant mixed tumor of body of uterus" EXACT [NCIT:C6311] synonym: "malignant mixed tumor of corpus uteri" EXACT [DOID:4114, NCIT:C6311] synonym: "malignant mixed tumor of the body of uterus" EXACT [NCIT:C6311] synonym: "malignant mixed tumor of the corpus uteri" EXACT [NCIT:C6311] synonym: "malignant mixed tumor of the uterine body" EXACT [NCIT:C6311] synonym: "malignant mixed tumor of the uterine corpus" EXACT [NCIT:C6311] synonym: "malignant mixed tumor of uterine body" EXACT [NCIT:C6311] synonym: "malignant mixed tumor of uterine corpus" EXACT [NCIT:C6311] synonym: "malignant mixed tumour of body of uterus" EXACT OMO:0003005 [] synonym: "malignant mixed tumour of corpus uteri" EXACT OMO:0003005 [] synonym: "malignant mixed tumour of the body of uterus" EXACT OMO:0003005 [] synonym: "malignant mixed tumour of the corpus uteri" EXACT OMO:0003005 [] synonym: "malignant mixed tumour of the uterine body" EXACT OMO:0003005 [] synonym: "malignant mixed tumour of the uterine corpus" EXACT OMO:0003005 [] synonym: "malignant mixed tumour of uterine body" EXACT OMO:0003005 [] synonym: "malignant mixed tumour of uterine corpus" EXACT OMO:0003005 [] synonym: "malignant uterine body mixed neoplasm" EXACT [NCIT:C6311] synonym: "malignant uterine body mixed tumor" EXACT [NCIT:C6311] synonym: "malignant uterine body mixed tumour" EXACT OMO:0003005 [] synonym: "malignant uterine corpus mixed epithelial and mesenchymal neoplasm" EXACT [NCIT:C6311] synonym: "malignant uterine corpus mixed tumor" EXACT [NCIT:C6311] synonym: "malignant uterine corpus mixed tumour" EXACT OMO:0003005 [] xref: DOID:4114 {source="MONDO:equivalentTo"} xref: NCIT:C6311 {source="DOID:4114", source="MONDO:equivalentTo"} xref: UMLS:C1334628 {source="DOID:4114", source="NCIT:C6311", source="MONDO:equivalentTo"} is_a: EFO:0007532 {source="DOID:4114", source="MONDO:Entailed", source="MONDO:Redundant"} ! uterine corpus cancer is_a: EFO:1000356 {source="MONDO:Redundant", source="NCIT:C6311"} ! Malignant Mixed Neoplasm is_a: MONDO:0016255 {source="MONDO:Redundant", source="NCIT:C6311"} ! uterine corpus mixed epithelial and mesenchymal neoplasm property_value: exactMatch DOID:4114 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334628 property_value: exactMatch NCIT:C6311 [Term] id: MONDO:0002882 name: colon neuroendocrine neoplasm def: "A neoplasm with neuroendocrine differentiation that arises from the colon. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." [NCIT:C5697] synonym: "colon NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "colon neuroendocrine neoplasm" EXACT [MONDO:patterns/location, NCIT:C5697] synonym: "colon neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm] synonym: "colon neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "colon neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "colonic neuroendocrine neoplasm" EXACT [NCIT:C5697] synonym: "colonic neuroendocrine tumor" EXACT [DOID:4118, NCIT:C5697] synonym: "colonic neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "neuroendocrine neoplasm of colon" EXACT [MONDO:patterns/neuroendocrine_neoplasm, NCIT:C5697] synonym: "neuroendocrine neoplasm of the colon" EXACT [NCIT:C5697] synonym: "neuroendocrine tumor of the colon" RELATED [Orphanet:100080] synonym: "neuroendocrine tumour of the colon" RELATED OMO:0003005 [] xref: DOID:4118 {source="MONDO:equivalentTo"} xref: NCIT:C5697 {source="DOID:4118", source="MONDO:equivalentTo"} xref: Orphanet:100080 {source="MONDO:equivalentTo"} xref: UMLS:C1333097 {source="DOID:4118", source="MONDO:equivalentTo", source="NCIT:C5697"} is_a: EFO:0004288 {source="MONDO:Redundant", source="NCIT:C5697"} ! colonic neoplasm is_a: MONDO:0002883 {source="DOID:4118", source="MONDO:Redundant", source="NCIT:C5697/inferred"} ! intestinal neuroendocrine neoplasm property_value: exactMatch DOID:4118 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333097 property_value: exactMatch NCIT:C5697 property_value: exactMatch Orphanet:100080 [Term] id: MONDO:0002883 name: intestinal neuroendocrine neoplasm def: "A neoplasm with neuroendocrine differentiation that arises from the small or large intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." [NCIT:C5695] synonym: "intestinal neuroendocrine benign tumor" RELATED [DOID:4119] synonym: "intestinal neuroendocrine benign tumour" RELATED OMO:0003005 [] synonym: "intestinal neuroendocrine neoplasm" EXACT [NCIT:C5695] synonym: "intestine NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "intestine neuroendocrine neoplasm" EXACT [MONDO:patterns/location] synonym: "intestine neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm] synonym: "intestine neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "intestine neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "neuroendocrine neoplasm of intestine" EXACT [MONDO:patterns/neuroendocrine_neoplasm, NCIT:C5695] synonym: "neuroendocrine neoplasm of the intestine" EXACT [NCIT:C5695] synonym: "neuroendocrine tumor of intestine" EXACT [DOID:4119] synonym: "neuroendocrine tumour of intestine" EXACT OMO:0003005 [] xref: DOID:4119 {source="MONDO:equivalentTo"} xref: NCIT:C5695 {source="MONDO:equivalentTo", source="DOID:4119"} xref: UMLS:C1334231 {source="NCIT:C5695", source="MONDO:equivalentTo", source="DOID:4119"} is_a: MONDO:0021118 {source="DOID:4119", source="MONDO:Redundant", source="NCIT:C5695"} ! intestinal neoplasm is_a: MONDO:0024503 ! digestive system neuroendocrine neoplasm property_value: exactMatch DOID:4119 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334231 property_value: exactMatch NCIT:C5695 [Term] id: MONDO:0002884 name: nail disorder def: "A disease involving the nail." [https://orcid.org/0000-0002-6601-2165] synonym: "disease of nail" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of nail" EXACT [] synonym: "disorder of nail" EXACT [MONDO:patterns/location_top] synonym: "nail disease" EXACT [MONDO:patterns/location] synonym: "nail disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:4123 {source="MONDO:equivalentTo"} xref: ICD9:703 {source="DOID:4123"} xref: ICD9:703.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:703.9 {source="DOID:4123", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D009260 {source="DOID:4123", source="MONDO:equivalentTo"} xref: SCTID:17790008 {source="DOID:4123", source="MONDO:equivalentTo"} xref: UMLS:C0027339 {source="DOID:4123", source="MONDO:equivalentTo"} is_a: EFO:0010285 {source="DOID:4123", source="MONDO:Redundant"} ! integumentary system disease property_value: exactMatch DOID:4123 property_value: exactMatch http://identifiers.org/mesh/D009260 property_value: exactMatch http://identifiers.org/snomedct/17790008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027339 [Term] id: MONDO:0002886 name: common bile duct disorder def: "A disease involving the common bile duct." [https://orcid.org/0000-0002-6601-2165] synonym: "common bile duct disease" EXACT [MONDO:patterns/location] synonym: "common bile duct disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "disease of common bile duct" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of common bile duct" EXACT [] synonym: "disorder of common bile duct" EXACT [MONDO:patterns/location_top] xref: DOID:4137 {source="MONDO:equivalentTo"} xref: MESH:D003137 {source="DOID:4137", source="MONDO:equivalentTo"} xref: UMLS:C0009440 {source="DOID:4137", source="MONDO:equivalentTo"} is_a: MONDO:0002887 {source="DOID:4137", source="MESH:D003137", source="MONDO:Entailed", source="MONDO:Redundant"} ! bile duct disorder property_value: exactMatch DOID:4137 property_value: exactMatch http://identifiers.org/mesh/D003137 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009440 [Term] id: MONDO:0002887 name: bile duct disorder def: "A disease involving the bile duct." [https://orcid.org/0000-0002-6601-2165] synonym: "bile duct disease" EXACT [MONDO:patterns/location] synonym: "bile duct disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "bile duct disorder" EXACT [NCIT:C96716] synonym: "disease of bile duct" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of bile duct" EXACT [] synonym: "disorder of bile duct" EXACT [MONDO:patterns/location_top] xref: DOID:4138 {source="MONDO:equivalentTo"} xref: MESH:D001649 {source="DOID:4138", source="MONDO:equivalentTo"} xref: NCIT:C96716 {source="DOID:4138", source="MONDO:equivalentTo"} xref: SCTID:118926004 {source="DOID:4138", source="MONDO:equivalentTo"} xref: UMLS:C0005395 {source="DOID:4138", source="NCIT:C96716", source="MONDO:equivalentTo"} is_a: EFO:0009534 {source="DOID:4138", source="MESH:D001649", source="MONDO:Redundant"} ! biliary tract disease property_value: exactMatch DOID:4138 property_value: exactMatch http://identifiers.org/mesh/D001649 property_value: exactMatch http://identifiers.org/snomedct/118926004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005395 property_value: exactMatch NCIT:C96716 [Term] id: MONDO:0002898 name: skin cancer def: "A malignant neoplasm involving the zone of skin" [https://orcid.org/0000-0002-6601-2165] synonym: "CA - skin cancer" EXACT [DOID:4159] synonym: "cancer of skin" RELATED [DOID:4159] synonym: "cancer of zone of skin" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of skin" EXACT [DOID:4159, MTH:NOCODE, NCIT:C2920] synonym: "malignant neoplasm of the skin" EXACT [NCIT:C2920] synonym: "malignant neoplasm of zone of skin" EXACT [MONDO:patterns/cancer] synonym: "malignant skin neoplasm" EXACT [NCIT:C2920] synonym: "malignant skin tumor" EXACT [NCIT:C2920] synonym: "malignant skin tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of skin" EXACT [NCIT:C2920] synonym: "malignant tumor of the skin" EXACT [NCIT:C2920] synonym: "malignant tumour of skin" EXACT OMO:0003005 [] synonym: "malignant tumour of the skin" EXACT OMO:0003005 [] synonym: "malignant zone of skin neoplasm" EXACT [MONDO:patterns/cancer] synonym: "melanoma and non-melanoma skin cancer" EXACT [DOID:4159, NCIT:C2920] synonym: "skin cancer" EXACT [NCIT:C2920] synonym: "skin cancer, Including melanoma" EXACT [NCIT:C2920] synonym: "skin neoplasm, malignant" EXACT [NCIT:C2920] synonym: "zone of skin cancer" EXACT [MONDO:patterns/location] xref: DOID:4159 {source="MONDO:equivalentTo"} xref: ICD10CM:C43-C44 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:173.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:173.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C2920 {source="DOID:4159", source="MONDO:equivalentTo"} xref: SCTID:372130007 {source="DOID:4159", source="MONDO:equivalentTo"} xref: UMLS:C0007114 {source="DOID:4159", source="MONDO:equivalentTo", source="NCIT:C2920"} is_a: EFO:0004198 {source="MONDO:Redundant", source="NCIT:C2920"} ! skin neoplasm is_a: MONDO:0000653 {source="DOID:4159", source="MONDO:Entailed", source="MONDO:Redundant"} ! integumentary system cancer property_value: exactMatch DOID:4159 property_value: exactMatch http://identifiers.org/snomedct/372130007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007114 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/C43-C44 property_value: exactMatch NCIT:C2920 [Term] id: MONDO:0002901 name: blood group incompatibility comment: May be obsoleted as it represents a finding xref: CSP:0440-3703 {source="DOID:4176"} xref: DOID:4176 {source="MONDO:equivalentTo"} xref: UMLS:C0005806 {source="MONDO:equivalentTo", source="DOID:4176"} is_a: EFO:0005803 {source="DOID:4176"} ! hematologic disease property_value: exactMatch DOID:4176 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005806 [Term] id: MONDO:0002907 name: intracranial thrombosis def: "Formation or presence of a blood clot (thrombus) in a blood vessel within the skull. Intracranial thrombosis can lead to thrombotic occlusions and brain infarction. The majority of the thrombotic occlusions are associated with atherosclerosis." [MESH:D020767] synonym: "cerebral thrombosis" EXACT [DOID:4193] xref: DOID:4193 {source="MONDO:equivalentTo"} xref: ICD9:434.0 {source="DOID:4193"} xref: ICD9:434.00 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D020767 {source="MONDO:equivalentTo", source="DOID:4193"} xref: SCTID:71444005 {source="MONDO:equivalentTo"} xref: UMLS:C0752143 {source="MONDO:equivalentTo", source="DOID:4193"} is_a: EFO:0003763 {source="DOID:4193", source="MESH:D020767/inferred"} ! cerebrovascular disorder is_a: MONDO:0000831 {source="DOID:4193"} ! thrombotic disease property_value: exactMatch DOID:4193 property_value: exactMatch http://identifiers.org/mesh/D020767 property_value: exactMatch http://identifiers.org/snomedct/71444005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0752143 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002912 name: brainstem cancer def: "A primary or metastatic malignant neoplasm that affects the brain stem." [NCIT:C3570] subset: gard_rare {source="GARD:0008244"} synonym: "brain stem cancer" RELATED [DOID:4203, GARD:0008244] synonym: "brainstem cancer" EXACT [MONDO:patterns/location] synonym: "cancer of brainstem" EXACT [MONDO:patterns/cancer] synonym: "malignant brain stem neoplasm" BROAD [NCIT:C3570] synonym: "malignant brain stem tumor" BROAD [NCIT:C3570] synonym: "malignant brain stem tumour" BROAD OMO:0003005 [] synonym: "malignant brainstem neoplasm" BROAD [MONDO:patterns/cancer, NCIT:C3570] synonym: "malignant brainstem tumor" BROAD [NCIT:C3570] synonym: "malignant brainstem tumour" BROAD OMO:0003005 [] synonym: "malignant neoplasm of brain stem" EXACT [DOID:4203, NCIT:C3570] synonym: "malignant neoplasm of brainstem" EXACT [DOID:4203, MONDO:patterns/cancer, NCIT:C3570] synonym: "malignant neoplasm of the brain stem" EXACT [NCIT:C3570] synonym: "malignant neoplasm of the brainstem" EXACT [NCIT:C3570] synonym: "malignant tumor of brain stem" EXACT [NCIT:C3570] synonym: "malignant tumor of brainstem" EXACT [DOID:4203, NCIT:C3570] synonym: "malignant tumor of the brain stem" EXACT [NCIT:C3570] synonym: "malignant tumor of the brainstem" EXACT [NCIT:C3570] synonym: "malignant tumour of brain stem" EXACT OMO:0003005 [] synonym: "malignant tumour of brainstem" EXACT OMO:0003005 [] synonym: "malignant tumour of the brain stem" EXACT OMO:0003005 [] synonym: "malignant tumour of the brainstem" EXACT OMO:0003005 [] synonym: "neoplasm of adult brain stem" BROAD [DOID:4203] synonym: "neoplasm of brain stem" BROAD [DOID:4203] synonym: "primary brain stem neoplasm" BROAD [DOID:4203] synonym: "primary brain stem tumor" BROAD [DOID:4203] synonym: "primary brain stem tumour" BROAD OMO:0003005 [] synonym: "tumor of the brainstem" BROAD [DOID:4203] synonym: "tumour of adult brainstem" BROAD OMO:0003005 [] synonym: "tumour of the brainstem" BROAD OMO:0003005 [] xref: DOID:4203 {source="MONDO:equivalentTo"} xref: ICD9:191.7 {source="DOID:4203", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D020295 {source="DOID:4203", source="MONDO:equivalentTo"} xref: NCIT:C3570 {source="DOID:4203", source="MONDO:equivalentTo"} xref: NCIT:C5967 {source="DOID:4203", source="MONDO:directSiblingOf"} xref: SCTID:363473003 {source="DOID:4203", source="MONDO:equivalentTo"} xref: UMLS:C1332192 {source="DOID:4203", source="MONDO:directSiblingOf"} is_a: EFO:1001767 {source="MONDO:Redundant", source="NCIT:C3570"} ! brain stem neoplasm is_a: MONDO:0003107 {source="DOID:4203", source="MESH:D020295", source="NCIT:C3570"} ! infratentorial cancer property_value: exactMatch DOID:4203 property_value: exactMatch http://identifiers.org/mesh/D020295 property_value: exactMatch http://identifiers.org/snomedct/363473003 property_value: exactMatch NCIT:C3570 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8244/brain-stem-cancer xsd:anyURI {source="GARD:0008244"} [Term] id: MONDO:0002913 name: cerebellar neoplasm def: "A benign or malignant (primary or metastatic) tumor involving the cerebellum. -- 2003" [NCIT:C2935] synonym: "cerebellar neoplasm" EXACT [NCIT:C2935] synonym: "cerebellar tumor" EXACT [NCIT:C2935] synonym: "cerebellar tumour" EXACT OMO:0003005 [] synonym: "cerebellum cancer" RELATED [DOID:4205] synonym: "cerebellum neoplasm" EXACT [] synonym: "cerebellum neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "cerebellum tumor" EXACT [MONDO:patterns/neoplasm] synonym: "cerebellum tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of cerebellum" NARROW [DOID:4205, NCIT:C3569] synonym: "malignant tumour of cerebellum" NARROW OMO:0003005 [] synonym: "neoplasm of cerebellum" EXACT [MONDO:patterns/neoplasm, NCIT:C2935] synonym: "neoplasm of the cerebellum" EXACT [NCIT:C2935] synonym: "tumor of cerebellum" EXACT [MONDO:patterns/neoplasm, NCIT:C2935] synonym: "tumor of the cerebellum" EXACT [NCIT:C2935] synonym: "tumour of cerebellum" EXACT OMO:0003005 [] synonym: "tumour of the cerebellum" EXACT OMO:0003005 [] xref: DOID:4205 {source="MONDO:equivalentTo"} xref: ICD9:191.6 {source="DOID:4205"} xref: MESH:D002528 {source="MONDO:equivalentTo", source="DOID:4205"} xref: NCIT:C2935 {source="MONDO:equivalentTo", source="DOID:4205"} xref: SCTID:126960003 {source="MONDO:equivalentTo", source="DOID:4205"} xref: UMLS:C0007762 {source="NCIT:C2935", source="MONDO:equivalentTo", source="DOID:4205"} is_a: EFO:0003833 {source="MONDO:Redundant", source="NCIT:C2935/inferred"} ! brain neoplasm is_a: MONDO:0002427 {source="MESH:D002528", source="MONDO:Redundant"} ! cerebellar disorder property_value: exactMatch DOID:4205 property_value: exactMatch http://identifiers.org/mesh/D002528 property_value: exactMatch http://identifiers.org/snomedct/126960003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007762 property_value: exactMatch NCIT:C2935 [Term] id: MONDO:0002914 name: childhood brain stem neoplasm def: "A neoplasm that affects the brain stem and occurs during childhood." [NCIT:C5969] synonym: "brain stem neoplasm" EXACT [NCIT:C5969] synonym: "brainstem cancer of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "childhood brain stem neoplasm" EXACT [NCIT:C5969] synonym: "childhood brain stem tumor" EXACT [NCIT:C5969] synonym: "childhood brain stem tumour" EXACT OMO:0003005 [] synonym: "childhood brainstem cancer" EXACT [MONDO:design_pattern] synonym: "childhood brainstem neoplasm" EXACT [NCIT:C5969] synonym: "childhood brainstem tumor" EXACT [NCIT:C5969] synonym: "childhood brainstem tumour" EXACT OMO:0003005 [] synonym: "childhood neoplasm of brain stem" EXACT [NCIT:C5969] synonym: "childhood neoplasm of brainstem" EXACT [NCIT:C5969] synonym: "childhood neoplasm of the brain stem" EXACT [NCIT:C5969] synonym: "childhood neoplasm of the brainstem" EXACT [NCIT:C5969] synonym: "childhood tumor of brain stem" EXACT [NCIT:C5969] synonym: "childhood tumor of brainstem" EXACT [NCIT:C5969] synonym: "childhood tumor of the brain stem" EXACT [NCIT:C5969] synonym: "childhood tumor of the brainstem" EXACT [NCIT:C5969] synonym: "childhood tumour of brain stem" EXACT OMO:0003005 [] synonym: "childhood tumour of brainstem" EXACT OMO:0003005 [] synonym: "childhood tumour of the brain stem" EXACT OMO:0003005 [] synonym: "childhood tumour of the brainstem" EXACT OMO:0003005 [] synonym: "paediatric brain stem neoplasm" EXACT OMO:0003005 [] synonym: "paediatric brain stem tumour" EXACT OMO:0003005 [] synonym: "paediatric brainstem cancer" EXACT OMO:0003005 [] synonym: "paediatric brainstem neoplasm" EXACT OMO:0003005 [] synonym: "paediatric brainstem tumour" EXACT OMO:0003005 [] synonym: "paediatric neoplasm of brain stem" EXACT OMO:0003005 [] synonym: "paediatric neoplasm of brainstem" EXACT OMO:0003005 [] synonym: "paediatric neoplasm of the brain stem" EXACT OMO:0003005 [] synonym: "paediatric neoplasm of the brainstem" EXACT OMO:0003005 [] synonym: "paediatric tumour of brain stem" EXACT OMO:0003005 [] synonym: "paediatric tumour of brainstem" EXACT OMO:0003005 [] synonym: "paediatric tumour of the brain stem" EXACT OMO:0003005 [] synonym: "paediatric tumour of the brainstem" EXACT OMO:0003005 [] synonym: "pediatric brain stem neoplasm" EXACT [NCIT:C5969] synonym: "pediatric brain stem tumor" EXACT [NCIT:C5969] synonym: "pediatric brainstem cancer" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "pediatric brainstem neoplasm" EXACT [NCIT:C5969] synonym: "pediatric brainstem tumor" EXACT [NCIT:C5969] synonym: "pediatric neoplasm of brain stem" EXACT [NCIT:C5969] synonym: "pediatric neoplasm of brainstem" EXACT [NCIT:C5969] synonym: "pediatric neoplasm of the brain stem" EXACT [NCIT:C5969] synonym: "pediatric neoplasm of the brainstem" EXACT [NCIT:C5969] synonym: "pediatric tumor of brain stem" EXACT [NCIT:C5969] synonym: "pediatric tumor of brainstem" EXACT [DOID:4206, NCIT:C5969] synonym: "pediatric tumor of the brain stem" EXACT [NCIT:C5969] synonym: "pediatric tumor of the brainstem" EXACT [NCIT:C5969] xref: DOID:4206 {source="MONDO:equivalentTo"} xref: EFO:1001767 {source="MONDO:equivalentTo"} xref: NCIT:C5969 {source="DOID:4206", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1332951 {source="DOID:4206", source="MONDO:equivalentTo", source="NCIT:C5969"} is_a: EFO:1000654 ! childhood cancer is_a: MONDO:0002912 {source="DOID:4206", source="MONDO:Redundant"} ! brainstem cancer is_a: MONDO:0002915 {source="NCIT:C5969"} ! childhood infratentorial neoplasm property_value: exactMatch DOID:4206 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332951 property_value: exactMatch NCIT:C5969 [Term] id: MONDO:0002915 name: childhood infratentorial neoplasm def: "A neoplasm that affects the infratentorial region of the brain and occurs during childhood." [NCIT:C5802] synonym: "childhood infratentorial neoplasm" EXACT [NCIT:C5802] synonym: "childhood infratentorial neoplasms" EXACT [NCIT:C5802] synonym: "childhood infratentorial tumor" EXACT [NCIT:C5802] synonym: "childhood infratentorial tumors" EXACT [NCIT:C5802] synonym: "childhood infratentorial tumour" EXACT OMO:0003005 [] synonym: "childhood infratentorial tumours" EXACT OMO:0003005 [] synonym: "infratentorial neoplasm of childhood" EXACT [MONDO:patterns/childhood] synonym: "paediatric infratentorial neoplasm" EXACT OMO:0003005 [] synonym: "paediatric infratentorial tumour" EXACT OMO:0003005 [] synonym: "pediatric infratentorial neoplasm" EXACT [MONDO:patterns/childhood, NCIT:C5802] synonym: "pediatric infratentorial tumor" EXACT [DOID:4207, NCIT:C5802] xref: DOID:4207 {source="MONDO:equivalentTo"} xref: NCIT:C5802 {source="MONDO:equivalentTo", source="DOID:4207", source="MONDO:exact-label-match"} xref: UMLS:C1332973 {source="MONDO:equivalentTo", source="DOID:4207", source="NCIT:C5802"} is_a: MONDO:0021079 ! childhood neoplasm is_a: MONDO:0037736 ! infratentorial neoplasm property_value: exactMatch DOID:4207 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332973 property_value: exactMatch NCIT:C5802 property_value: excluded_subClassOf MONDO:0002912 {source="DOID:4207"} [Term] id: MONDO:0002917 name: disorder of pilosebaceous unit def: "A disease that involves the pilosebaceous unit." [MONDO:patterns/location] synonym: "disease of pilosebaceous unit" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of pilosebaceous unit" EXACT [] synonym: "disorder of pilosebaceous unit" EXACT [MONDO:patterns/location_top] synonym: "hair and hair follicle diseases" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "hair disease" NARROW [MESH:D006201] synonym: "hair disorder" EXACT [NCIT:C34656] synonym: "hair/hair follicle diseases" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "pilosebaceous unit disease" EXACT [MONDO:patterns/location] synonym: "pilosebaceous unit disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:421 {source="MONDO:equivalentTo"} xref: ICD9:704.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:704.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D006201 {source="MONDO:equivalentTo", source="DOID:421"} xref: NCIT:C34656 {source="MONDO:equivalentTo", source="DOID:421"} xref: SCTID:201128002 {source="MONDO:equivalentTo"} xref: UMLS:C0018500 {source="MONDO:equivalentTo", source="NCIT:C34656", source="DOID:421"} xref: UMLS:C0554472 {source="MONDO:equivalentTo"} is_a: EFO:0010285 {source="DOID:421", source="MONDO:Redundant"} ! integumentary system disease property_value: exactMatch DOID:421 property_value: exactMatch http://identifiers.org/mesh/D006201 property_value: exactMatch http://identifiers.org/snomedct/201128002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018500 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0554472 property_value: exactMatch NCIT:C34656 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002921 name: congenital structural myopathy def: "A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills." [NCIT:P378] synonym: "centronuclear myopathy" RELATED [NCIT:C84648] xref: DOID:422 {source="MONDO:equivalentTo"} xref: MESH:D020914 {source="MONDO:equivalentTo", source="DOID:422"} xref: NCIT:C84648 {source="MONDO:equivalentTo", source="DOID:422"} xref: UMLS:C0752282 {source="NCIT:C84648", source="MONDO:equivalentTo", source="DOID:422"} is_a: MONDO:0019952 {source="https://orcid.org/0000-0002-0736-9199"} ! congenital myopathy property_value: exactMatch DOID:422 property_value: exactMatch http://identifiers.org/mesh/D020914 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0752282 property_value: exactMatch NCIT:C84648 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5656 xsd:anyURI [Term] id: MONDO:0002924 name: smooth muscle cancer def: "A malignant neoplasm arising from smooth muscle." [NCIT:C6511] synonym: "cancer of smooth muscle" EXACT [NCIT:C6511] synonym: "cancer of the smooth muscle" EXACT [NCIT:C6511] synonym: "malignant neoplasm of smooth muscle" EXACT [NCIT:C6511] synonym: "malignant neoplasm of the smooth muscle" EXACT [NCIT:C6511] synonym: "malignant smooth muscle neoplasm" EXACT [NCIT:C6511] synonym: "malignant smooth muscle tumor" EXACT [NCIT:C6511] synonym: "malignant smooth muscle tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of smooth muscle" EXACT [DOID:4230, NCIT:C6511] synonym: "malignant tumor of the smooth muscle" EXACT [NCIT:C6511] synonym: "malignant tumour of smooth muscle" EXACT OMO:0003005 [] synonym: "malignant tumour of the smooth muscle" EXACT OMO:0003005 [] synonym: "smooth muscle cancer" EXACT [NCIT:C6511] xref: DOID:4230 {source="MONDO:equivalentTo"} xref: NCIT:C6511 {source="MONDO:equivalentTo", source="DOID:4230"} xref: UMLS:C1334620 {source="MONDO:equivalentTo", source="NCIT:C6511", source="DOID:4230"} is_a: EFO:0007384 {source="DOID:4230", source="MONDO:Redundant", source="NCIT:C6511"} ! muscle cancer is_a: EFO:1001185 {source="MONDO:Redundant", source="NCIT:C6511"} ! smooth muscle tumor property_value: exactMatch DOID:4230 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334620 property_value: exactMatch NCIT:C6511 [Term] id: MONDO:0002927 name: spindle cell sarcoma def: "A malignant mesenchymal neoplasm composed of spindle-shaped cells. This is a morphologic term which can be applied to a wide range of sarcomas." [NCIT:C27005] synonym: "spindle cell sarcoma" EXACT [NCIT:C27005] xref: DOID:4235 {source="MONDO:equivalentTo"} xref: ICDO:8801/3 {source="NCIT:C27005"} xref: NCIT:C27005 {source="DOID:4235", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C0205945 {source="DOID:4235", source="MONDO:equivalentTo", source="NCIT:C27005"} is_a: EFO:0000691 {source="DOID:4235", source="NCIT:C27005"} ! sarcoma is_a: MONDO:0020663 ! malignant spindle cell neoplasm property_value: exactMatch DOID:4235 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205945 property_value: exactMatch NCIT:C27005 [Term] id: MONDO:0002928 name: carcinosarcoma def: "A malignant tumor composed of a mixture of carcinomatous and sarcomatous elements." [NCIT:C34448] synonym: "carcinosarcoma" EXACT [NCIT:C34448] synonym: "carcinosarcoma, malignant" EXACT [NCIT:C34448] synonym: "malignant mixed mesodermal (mullerian) tumor" EXACT [DOID:4236] synonym: "malignant mixed mesodermal (mullerian) tumour" EXACT OMO:0003005 [] synonym: "malignant mixed Mullerian tumor" EXACT [DOID:4236] synonym: "malignant mixed Mullerian tumour" EXACT OMO:0003005 [] synonym: "mesodermal mixed tumor" EXACT [DOID:4236] synonym: "mesodermal mixed tumor (morphologic abnormality)" EXACT [DOID:4236] synonym: "mesodermal mixed tumour" EXACT OMO:0003005 [] synonym: "mesodermal mixed tumour (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "mixed mesodermal (mullerian) tumor" EXACT [DOID:4236, NCIT:C3730] synonym: "mixed mesodermal (mullerian) tumour" EXACT OMO:0003005 [] synonym: "mixed Mullerian tumor" RELATED [GARD:0006966] synonym: "mixed Mullerian tumour" RELATED OMO:0003005 [] synonym: "mixed tumor, Mullerian" RELATED [GARD:0006966] synonym: "MMMT" EXACT ABBREVIATION [DOID:4236, NCIT:C8975] synonym: "mullerian mixed tumor" EXACT [DOID:4236] synonym: "mullerian mixed tumor (morphologic abnormality)" EXACT [DOID:4236] synonym: "mullerian mixed tumour" EXACT OMO:0003005 [] synonym: "mullerian mixed tumour (morphologic abnormality)" EXACT OMO:0003005 [] xref: DOID:4236 {source="MONDO:equivalentTo"} xref: ICDO:8980/3 {source="NCIT:C34448"} xref: MESH:D002296 {source="DOID:4236", source="MONDO:equivalentTo"} xref: NCIT:C34448 {source="MONDO:equivalentTo"} xref: UMLS:C0007140 {source="DOID:4236", source="MONDO:equivalentTo", source="NCIT:C34448"} xref: UMLS:C0206627 {source="DOID:4236", source="MONDO:equivalentTo"} xref: UMLS:C1334603 {source="DOID:4236", source="MONDO:equivalentTo"} is_a: EFO:1000356 {source="DOID:4236", source="NCIT:C34448"} ! Malignant Mixed Neoplasm property_value: exactMatch DOID:4236 property_value: exactMatch http://identifiers.org/mesh/D002296 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007140 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206627 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334603 property_value: exactMatch NCIT:C34448 [Term] id: MONDO:0002930 name: kidney sarcoma def: "A sarcoma involving a kidney." [MONDO:patterns/sarcoma] synonym: "kidney sarcoma" EXACT [MONDO:patterns/location, NCIT:C4525] synonym: "renal sarcoma" EXACT [DOID:4242, NCIT:C4525] synonym: "sarcoma of kidney" EXACT [MONDO:patterns/sarcoma, NCIT:C4525] synonym: "sarcoma of the kidney" EXACT [NCIT:C4525] xref: DOID:4242 {source="MONDO:equivalentTo"} xref: ICD9:189.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4525 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4242"} xref: SCTID:254918001 {source="MONDO:equivalentTo", source="DOID:4242"} xref: UMLS:C0346251 {source="MONDO:equivalentTo", source="NCIT:C4525", source="DOID:4242"} is_a: EFO:1001968 {source="NCIT:C4525"} ! soft tissue sarcoma is_a: MONDO:0002367 {source="DOID:4242", source="MONDO:Redundant", source="NCIT:C4525"} ! kidney cancer property_value: exactMatch DOID:4242 property_value: exactMatch http://identifiers.org/snomedct/254918001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346251 property_value: exactMatch NCIT:C4525 [Term] id: MONDO:0002933 name: osteosclerosis def: "Abnormally high bone density." [NCIT:C41236] xref: DOID:4254 {source="MONDO:equivalentTo"} xref: MESH:D010026 {source="DOID:4254", source="MONDO:equivalentTo"} xref: NCIT:C41236 {source="DOID:4254", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="MONDO:exact-label-match"} xref: SCTID:49347007 {source="DOID:4254", source="MONDO:equivalentTo"} xref: UMLS:C0029464 {source="DOID:4254", source="MONDO:equivalentTo"} is_a: MONDO:0000833 {source="DOID:4254"} ! bone remodeling disease property_value: exactMatch DOID:4254 property_value: exactMatch http://identifiers.org/mesh/D010026 property_value: exactMatch http://identifiers.org/snomedct/49347007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029464 property_value: exactMatch NCIT:C41236 [Term] id: MONDO:0002959 name: radiculopathy def: "Disease involving a spinal nerve root (see spinal nerve roots) which may result from compression related to intervertebral disk displacement; spinal cord injuries; spinal diseases; and other conditions. Clinical manifestations include radicular pain, weakness, and sensory loss referable to structures innervated by the involved nerve root." [MESH:D011843] comment: Editor note: DO classifies under polyradiculopathy, which we invert synonym: "nerve root disorder" EXACT [DOID:4306] xref: DOID:4306 {source="MONDO:equivalentTo"} xref: ICD10CM:M54.1 {source="MONDO:equivalentTo", source="DOID:4306"} xref: MESH:D011843 {source="MONDO:equivalentTo", source="DOID:4306"} xref: SCTID:72274001 {source="MONDO:equivalentTo", source="DOID:4306"} xref: UMLS:C0700594 {source="MONDO:equivalentTo", source="DOID:4306"} is_a: EFO:0009387 {source="DOID:4306/inferred", source="MESH:D011843"} ! peripheral nervous system disease property_value: exactMatch DOID:4306 property_value: exactMatch http://identifiers.org/mesh/D011843 property_value: exactMatch http://identifiers.org/snomedct/72274001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0700594 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/M54.1 property_value: excluded_subClassOf MONDO:0002960 {source="DOID:4306"} property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0002970 name: ciliary body disorder def: "A disease involving the ciliary body." [https://orcid.org/0000-0002-6601-2165] synonym: "ciliary body disease" EXACT [MONDO:patterns/location, NCIT:C35775] synonym: "ciliary body disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "ciliary body disorder" EXACT [NCIT:C35775] synonym: "disease of ciliary body" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of ciliary body" EXACT [] synonym: "disorder of ciliary body" EXACT [MONDO:patterns/location_top] xref: DOID:4353 {source="MONDO:equivalentTo"} xref: NCIT:C35775 {source="DOID:4353", source="MONDO:equivalentTo"} xref: SCTID:68575007 {source="DOID:4353", source="MONDO:equivalentTo"} xref: UMLS:C0271100 {source="DOID:4353", source="MONDO:equivalentTo", source="NCIT:C35775"} is_a: MONDO:0002289 {source="DOID:4353"} ! iris disorder property_value: exactMatch DOID:4353 property_value: exactMatch http://identifiers.org/snomedct/68575007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271100 property_value: exactMatch NCIT:C35775 [Term] id: MONDO:0002973 name: epithelioid cell melanoma def: "A melanoma characterized by the presence of malignant large epithelioid melanocytes." [NCIT:C4236] synonym: "epithelioid cell malignant melanoma" EXACT [NCIT:C4236] synonym: "epithelioid cell melanoma" EXACT [NCIT:C4236] synonym: "epithelioid cell melanoma (morphologic abnormality)" EXACT [DOID:4360] synonym: "epithelioid melanoma" EXACT [DOID:4360, NCIT:C4236] xref: DOID:4360 {source="MONDO:equivalentTo"} xref: ICDO:8771/3 {source="NCIT:C4236"} xref: NCIT:C4236 {source="MONDO:equivalentTo", source="DOID:4360"} xref: UMLS:C0334443 {source="MONDO:equivalentTo", source="NCIT:C4236", source="DOID:4360"} is_a: EFO:0000756 {source="DOID:4360", source="NCIT:C4236"} ! melanoma property_value: exactMatch DOID:4360 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334443 property_value: exactMatch NCIT:C4236 [Term] id: MONDO:0002974 name: cervical cancer def: "A primary or metastatic malignant neoplasm involving the cervix." [NCIT:C9311] synonym: "cancer of uterine cervix" EXACT [MONDO:patterns/cancer] synonym: "cervical cancer, somatic" EXACT [OMIM:603956, OMIM:genemap2] synonym: "cervical neoplasm" BROAD [DOID:4362] synonym: "cervix cancer" EXACT [DOID:4362] synonym: "cervix uteri cancer" EXACT [DOID:4362] synonym: "malignant cervical neoplasm" EXACT [NCIT:C9311] synonym: "malignant cervical tumor" EXACT [NCIT:C9311] synonym: "malignant cervical tumour" EXACT OMO:0003005 [] synonym: "malignant cervix neoplasm" EXACT [NCIT:C9311] synonym: "malignant cervix tumor" EXACT [NCIT:C9311] synonym: "malignant cervix tumour" EXACT OMO:0003005 [] synonym: "malignant cervix uteri neoplasm" EXACT [NCIT:C9311] synonym: "malignant cervix uteri tumor" EXACT [NCIT:C9311] synonym: "malignant cervix uteri tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of cervix" EXACT [NCIT:C9311] synonym: "malignant neoplasm of cervix uteri" EXACT [NCIT:C9311] synonym: "malignant neoplasm of the cervix" EXACT [NCIT:C9311] synonym: "malignant neoplasm of the cervix uteri" EXACT [NCIT:C9311] synonym: "malignant neoplasm of the uterine cervix" EXACT [NCIT:C9311] synonym: "malignant neoplasm of uterine cervix" EXACT [MONDO:patterns/cancer, NCIT:C9311] synonym: "malignant tumor of cervix" EXACT [NCIT:C9311] synonym: "malignant tumor of cervix uteri" EXACT [NCIT:C9311] synonym: "malignant tumor of the cervix" EXACT [NCIT:C9311] synonym: "malignant tumor of the cervix uteri" EXACT [NCIT:C9311] synonym: "malignant tumor of the uterine cervix" EXACT [NCIT:C9311] synonym: "malignant tumor of uterine cervix" EXACT [NCIT:C9311] synonym: "malignant tumour of cervix" EXACT OMO:0003005 [] synonym: "malignant tumour of cervix uteri" EXACT OMO:0003005 [] synonym: "malignant tumour of the cervix" EXACT OMO:0003005 [] synonym: "malignant tumour of the cervix uteri" EXACT OMO:0003005 [] synonym: "malignant tumour of the uterine cervix" EXACT OMO:0003005 [] synonym: "malignant tumour of uterine cervix" EXACT OMO:0003005 [] synonym: "malignant uterine cervix neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9311] synonym: "malignant uterine cervix tumor" EXACT [NCIT:C9311] synonym: "malignant uterine cervix tumour" EXACT OMO:0003005 [] synonym: "tumor of the cervix uteri" BROAD [DOID:4362, NCIT:C2940] synonym: "tumour of the cervix uteri" BROAD OMO:0003005 [] synonym: "uterine cervical neoplasm" BROAD [DOID:4362] synonym: "uterine cervix cancer" EXACT [MONDO:patterns/location] xref: DOID:4362 {source="MONDO:equivalentTo"} xref: ICD9:180 {source="DOID:4362"} xref: ICD9:180.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:180.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:4362"} xref: NCIT:C9311 {source="MONDO:equivalentTo", source="DOID:4362"} xref: OMIM:603956 {source="MONDO:equivalentTo", source="DOID:4362"} xref: SCTID:363354003 {source="MONDO:equivalentTo", source="DOID:4362"} is_a: MONDO:0002715 {source="MONDO:Redundant", source="NCIT:C9311"} ! uterine cancer is_a: MONDO:0021230 {source="MONDO:Redundant", source="NCIT:C9311"} ! uterine cervix neoplasm property_value: exactMatch DOID:4362 property_value: exactMatch http://identifiers.org/snomedct/363354003 property_value: exactMatch https://omim.org/entry/603956 property_value: exactMatch NCIT:C9311 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0002977 name: autoimmune disorder of the nervous system def: "A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis." [NCIT:C99383] synonym: "autoimmune disease of nervous system" EXACT [MONDO:design_pattern] synonym: "autoimmune disease, neurologic" EXACT [MESH:D020274] synonym: "autoimmune diseases, nervous system" EXACT [MESH:D020274] synonym: "autoimmune diseases, neurologic" EXACT [MESH:D020274] synonym: "autoimmune disorders of the nervous system" EXACT [MESH:D020274] synonym: "autoimmune disorders, nervous system" EXACT [MESH:D020274] synonym: "autoimmune nervous system diseases" EXACT [MESH:D020274] synonym: "autoimmune nervous system disorder" EXACT [DOID:438, NCIT:C99383] synonym: "disease, neurologic autoimmune" EXACT [MESH:D020274] synonym: "diseases, neurologic autoimmune" EXACT [MESH:D020274] synonym: "immune diseases, nervous system" EXACT [MESH:D020274] synonym: "immune disorders, nervous system" EXACT [MESH:D020274] synonym: "nervous system autoimmune disease" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "nervous system autoimmune diseases" EXACT [MESH:D020274] synonym: "nervous system hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location] synonym: "nervous system immune diseases" EXACT [MESH:D020274] synonym: "nervous system immune disorders" EXACT [MESH:D020274] synonym: "neurologic autoimmune disease" EXACT [MESH:D020274] synonym: "neurologic autoimmune diseases" EXACT [MESH:D020274] xref: DOID:438 {source="MONDO:equivalentTo"} xref: MESH:D020274 {source="DOID:438", source="MONDO:equivalentTo"} xref: NCIT:C99383 {source="DOID:438", source="MONDO:equivalentTo"} xref: UMLS:C0751871 {source="DOID:438", source="NCIT:C99383", source="MONDO:equivalentTo"} xref: UMLS:C0751872 {source="MONDO:equivalentTo"} is_a: EFO:0000618 {source="MESH:D020274", source="MONDO:Redundant", source="NCIT:C99383/inferred"} ! nervous system disease is_a: EFO:0005809 {source="DOID:438", source="MESH:D020274", source="MONDO:Redundant", source="NCIT:C99383"} ! type II hypersensitivity reaction disease property_value: exactMatch DOID:438 property_value: exactMatch http://identifiers.org/mesh/D020274 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751871 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751872 property_value: exactMatch NCIT:C99383 [Term] id: MONDO:0002979 name: papillary squamous carcinoma def: "A well differentiated squamous cell carcinoma characterized by a papillary, exophytic growth pattern and hyperkeratosis. The most commonly affected anatomic sites are the larynx, penis, cervix, vagina, and vulva." [NCIT:P378] synonym: "papillary epidermoid carcinoma" EXACT [DOID:4385, NCIT:C4102] synonym: "papillary epidermoid cell carcinoma" EXACT [NCIT:C4102] synonym: "papillary squamous carcinoma" EXACT [NCIT:C4102] synonym: "papillary squamous cell carcinoma" EXACT [NCIT:C4102] xref: DOID:4385 {source="MONDO:equivalentTo"} xref: ICDO:8052/3 {source="NCIT:C4102"} xref: NCIT:C4102 {source="MONDO:equivalentTo", source="DOID:4385"} xref: UMLS:C0334244 {source="MONDO:equivalentTo", source="NCIT:C4102", source="DOID:4385"} is_a: EFO:0000707 {source="DOID:4385", source="MONDO:Redundant", source="NCIT:C4102"} ! squamous cell carcinoma is_a: EFO:1000646 {source="MONDO:Redundant", source="NCIT:C4102"} ! papillary carcinoma intersection_of: EFO:0000707 {source="NCIT:C4102"} ! squamous cell carcinoma intersection_of: EFO:1000646 {source="NCIT:C4102"} ! papillary carcinoma property_value: exactMatch DOID:4385 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334244 property_value: exactMatch NCIT:C4102 [Term] id: MONDO:0002989 name: benign fibrous histiocytoma def: "A benign neoplasm composed of fibroblastic spindle cells in a whorled storiform pattern. It is characterized by the presence of foam cells, inflammatory cells, hemosiderin deposition and stromal hemorrhage." [NCIT:P378] synonym: "benign fibrous histiocytoma" EXACT [NCIT:C3739] synonym: "benign fibrous histiocytoma (morphologic abnormality)" EXACT [DOID:4415] synonym: "fibrous histiocytoma" EXACT [DOID:4415, NCIT:C3739] synonym: "fibrous histiocytoma NOS (morphologic abnormality)" EXACT [DOID:4415] synonym: "fibroxanthoma" EXACT [DOID:4415] synonym: "fibroxanthoma NOS (morphologic abnormality)" EXACT [DOID:4415] synonym: "histiocytoma, fibrous, benign" EXACT [NCIT:C3739] xref: DOID:4415 {source="MONDO:equivalentTo"} xref: ICDO:8830/0 {source="NCIT:C3739"} xref: MESH:D018219 {source="DOID:4415", source="MONDO:equivalentTo"} xref: NCIT:C3739 {source="DOID:4415", source="MONDO:equivalentTo"} xref: UMLS:C0206644 {source="NCIT:C3739", source="DOID:4415", source="MONDO:equivalentTo"} is_a: EFO:0005561 {source="DOID:4415", source="MESH:D018219", source="NCIT:C3739"} ! histiocytoma property_value: exactMatch DOID:4415 property_value: exactMatch http://identifiers.org/mesh/D018219 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206644 property_value: exactMatch NCIT:C3739 [Term] id: MONDO:0002995 name: small intestine neuroendocrine tumor, well differentiated, low or intermediate grade def: "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the small intestine." [NCIT:C96061] synonym: "carcinoid tumor of small intestine" RELATED [MONDO:cjm] synonym: "carcinoid tumour of small intestine" RELATED OMO:0003005 [] synonym: "small intestinal NET" BROAD [NCIT:C96061] synonym: "small intestinal neuroendocrine tumor" BROAD [NCIT:C96061] synonym: "small intestinal neuroendocrine tumour" BROAD OMO:0003005 [] synonym: "small intestinal well differentiated endocrine tumor" BROAD [NCIT:C96061] synonym: "small intestinal well differentiated endocrine tumor/carcinoma" NARROW [NCIT:C96061] synonym: "small intestinal well differentiated endocrine tumour" BROAD OMO:0003005 [] synonym: "small intestine neuroendocrine tumor" BROAD [MONDO:patterns/location, NCIT:C5803] synonym: "small intestine neuroendocrine tumour" BROAD OMO:0003005 [] xref: EFO:1001928 {source="MONDO:equivalentTo"} xref: NCIT:C96061 {source="MONDO:equivalentTo"} xref: UMLS:C3272528 {source="NCIT:C96061", source="MONDO:equivalentTo"} is_a: EFO:1001928 {source="MONDO:Redundant", source="NCIT:C96061"} ! small intestine neuroendocrine tumor is_a: MONDO:0000386 ! digestive system neuroendocrine tumor, grade 1/2 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3272528 property_value: exactMatch NCIT:C96061 [Term] id: MONDO:0002996 name: cavernous sinus meningioma def: "A meningioma that affects the cavernous sinus." [NCIT:P378] synonym: "cavernous sinus meningioma (disease)" EXACT [MONDO:patterns/location] synonym: "meningioma (disease) of cavernous sinus" EXACT [] synonym: "meningioma of cavernous sinus" EXACT [NCIT:C5268] synonym: "meningioma of the cavernous sinus" EXACT [DOID:4435, NCIT:C5268] xref: DOID:4435 {source="MONDO:equivalentTo"} xref: NCIT:C5268 {source="DOID:4435", source="MONDO:equivalentTo"} xref: UMLS:C1332865 {source="DOID:4435", source="MONDO:equivalentTo", source="NCIT:C5268"} is_a: MONDO:0002998 ! skull base meningioma is_a: MONDO:0004634 ! vein disorder is_a: MONDO:0021080 ! blood vessel neoplasm is_a: MONDO:0024499 ! vascular bone neoplasm is_a: MONDO:0043218 ! neurovascular disorder property_value: exactMatch DOID:4435 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332865 property_value: exactMatch NCIT:C5268 [Term] id: MONDO:0002998 name: skull base meningioma def: "A meningioma that arises from the skull base." [NCIT:C5272] synonym: "basicranium meningioma (disease)" EXACT [MONDO:patterns/location] synonym: "meningioma (disease) of basicranium" EXACT [] synonym: "meningioma of skull base" RELATED [NCIT:C5272] synonym: "meningioma of the skull base" EXACT [DOID:4437, NCIT:C5272] synonym: "skull base meningioma" EXACT [NCIT:C5272] xref: DOID:4437 {source="MONDO:equivalentTo"} xref: NCIT:C5272 {source="DOID:4437", source="MONDO:equivalentTo"} xref: UMLS:C1335976 {source="NCIT:C5272", source="DOID:4437", source="MONDO:equivalentTo"} is_a: MONDO:0002785 {source="DOID:4437", source="MONDO:Redundant", source="NCIT:C5272"} ! skull base neoplasm is_a: MONDO:0016642 {source="MONDO:Redundant", source="NCIT:C5272/inferred"} ! meningioma property_value: exactMatch DOID:4437 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335976 property_value: exactMatch NCIT:C5272 [Term] id: MONDO:0003000 name: central nervous system germ cell tumor def: "A unique group of rare tumors of the central nervous system that affect mainly children and adolescents. Their morphologic and biologic profile corresponds to that of homologous germ cell tumors that arise in the gonads and in other extragonadal sites. Representative examples include: germinoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, and teratoma." [NCIT:C5461] synonym: "central nervous system germ cell neoplasm" EXACT [NCIT:C5461] synonym: "central nervous system germ cell tumor" EXACT [MONDO:patterns/location, NCIT:C5461] synonym: "central nervous system rare germ cell tumor" EXACT [MONDO:patterns/location] synonym: "central nervous system rare germ cell tumour" EXACT OMO:0003005 [] synonym: "CNS germ cell neoplasm" EXACT [NCIT:C5461] synonym: "CNS germ cell tumor" EXACT [NCIT:C5461] synonym: "CNS germ cell tumour" EXACT OMO:0003005 [] synonym: "germ cell neoplasm of central nervous system" EXACT [NCIT:C5461] synonym: "germ cell neoplasm of CNS" EXACT [NCIT:C5461] synonym: "germ cell neoplasm of the central nervous system" EXACT [NCIT:C5461] synonym: "germ cell neoplasm of the CNS" EXACT [NCIT:C5461] synonym: "germ cell tumor of central nervous system" EXACT [NCIT:C5461] synonym: "germ cell tumor of CNS" EXACT [NCIT:C5461] synonym: "germ cell tumor of the central nervous system" EXACT [NCIT:C5461] synonym: "germ cell tumor of the CNS" EXACT [DOID:4439, NCIT:C5461] synonym: "germ cell tumour of central nervous system" EXACT OMO:0003005 [] synonym: "germ cell tumour of CNS" EXACT OMO:0003005 [] synonym: "germ cell tumour of the central nervous system" EXACT OMO:0003005 [] synonym: "germ cell tumour of the CNS" EXACT OMO:0003005 [] xref: DOID:4439 {source="MONDO:equivalentTo"} xref: NCIT:C5461 {source="MONDO:equivalentTo", source="DOID:4439"} xref: UMLS:C1332880 {source="NCIT:C5461", source="MONDO:equivalentTo", source="DOID:4439"} is_a: EFO:1000158 {source="MONDO:Redundant", source="NCIT:C5461"} ! Central Nervous System Neoplasm is_a: MONDO:0018201 {source="NCIT:C5461"} ! extragonadal germ cell tumor property_value: exactMatch DOID:4439 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332880 property_value: exactMatch NCIT:C5461 [Term] id: MONDO:0003001 name: seminoma def: "A radiosensitive malignant germ cell tumor found in the testis (especially undescended), and extragonadal sites (anterior mediastinum and pineal gland). It is characterized by the presence of uniform cells with clear or dense cytoplasm which contains glycogen, and by a large nucleus which contains one or more nucleoli. The neoplastic germ cells form aggregates separated by fibrous septa. The fibrous septa contain chronic inflammatory cells, mainly lymphocytes." [NCIT:C9309] synonym: "seminoma" EXACT [NCIT:C9309] synonym: "seminoma, malignant" EXACT [NCIT:C9309] synonym: "seminoma, pure" EXACT [DOID:4440, NCIT:C9309] xref: DOID:4440 {source="MONDO:equivalentTo"} xref: ICD9:186.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9061/3 {source="NCIT:C9309"} xref: MESH:D018239 {source="MONDO:equivalentTo", source="DOID:4440"} xref: NCIT:C9309 {source="MONDO:equivalentTo", source="DOID:4440"} xref: ONCOTREE:SEM {source="MONDO:equivalentTo"} xref: SCTID:443675005 {source="MONDO:equivalentTo", source="DOID:4440"} is_a: EFO:1000352 {source="NCIT:C9309"} ! Malignant Germ Cell Tumor is_a: MONDO:0020580 ! germinomatous germ cell tumor property_value: exactMatch DOID:4440 property_value: exactMatch http://identifiers.org/mesh/D018239 property_value: exactMatch http://identifiers.org/snomedct/443675005 property_value: exactMatch NCIT:C9309 [Term] id: MONDO:0003002 name: dysgerminoma def: "A malignant germ cell tumor characterized by the presence of a monotonous primitive germ cell population. The neoplastic cells form aggregates and have an abundant pale cytoplasm and uniform nuclei. The aggregates of the germ cells are separated by fibrous septa which contain inflammatory cells, mostly T-lymphocytes. It arises primarily in the ovaries, but can occur both primarily and secondarily at other sites, particularly the central nervous system. It responds to chemotherapy and radiotherapy. Its prognosis is related to the tumor stage." [NCIT:P378] synonym: "dysgerminoma" EXACT [MONDO:ambiguous, NCIT:C2996] synonym: "dysgerminoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "dysgerminoma, malignant" EXACT [NCIT:C2996] xref: DOID:4441 {source="MONDO:equivalentTo"} xref: HP:0100621 {source="MONDO:otherHierarchy"} xref: ICDO:9060/3 {source="NCIT:C2996"} xref: MESH:D004407 {source="DOID:4441", source="MONDO:equivalentTo"} xref: NCIT:C2996 {source="DOID:4441", source="MONDO:equivalentObsolete"} xref: UMLS:C0013377 {source="DOID:4441", source="MONDO:equivalentTo", source="NCIT:C2996"} is_a: EFO:1000352 {source="NCIT:C2996"} ! Malignant Germ Cell Tumor is_a: MONDO:0020580 ! germinomatous germ cell tumor property_value: exactMatch DOID:4441 property_value: exactMatch http://identifiers.org/mesh/D004407 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013377 property_value: IAO:0000589 "dysgerminoma (disease)" xsd:string [Term] id: MONDO:0003005 name: macular retinal edema def: "Accumulation of intraretinal fluid and protein in the macula, which may result in swelling and decreased central vision." [NCIT:C35468] synonym: "edema, macular" RELATED [NCIT:C35468] synonym: "macula lutea retinal edema" EXACT [MONDO:patterns/location] synonym: "macula lutea retinal oedema" EXACT OMO:0003005 [] synonym: "macular edema" EXACT [DOID:4449, NCIT:C35468] synonym: "macular oedema" EXACT OMO:0003005 [] synonym: "retinal edema of macula lutea" EXACT [MONDO:design_pattern] synonym: "retinal oedema of macula lutea" EXACT OMO:0003005 [] xref: DOID:4449 {source="MONDO:equivalentTo"} xref: NCIT:C35468 {source="MONDO:equivalentTo", source="DOID:4449"} xref: SCTID:37231002 {source="MONDO:equivalentTo", source="DOID:4449"} xref: UMLS:C0271051 {source="MONDO:equivalentTo", source="DOID:4449", source="NCIT:C35468"} is_a: EFO:0009606 ! macular degeneration is_a: MONDO:0004037 ! retinal edema property_value: exactMatch DOID:4449 property_value: exactMatch http://identifiers.org/snomedct/37231002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271051 property_value: exactMatch NCIT:C35468 [Term] id: MONDO:0003008 name: hereditary renal cell carcinoma def: "An instance of renal cell carcinoma (disease) that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: gard_rare {source="GARD:0009571"} synonym: "familial renal carcinoma" RELATED [MESH:C536851] synonym: "hereditary renal carcinoma" RELATED [] synonym: "hereditary renal cell cancer" EXACT [NCIT:C39789] synonym: "hereditary renal cell carcinoma" EXACT [NCIT:C39789] synonym: "hereditary renal cell carcinoma (disease)" EXACT [MONDO:patterns/hereditary] xref: DOID:4455 {source="MONDO:equivalentTo"} xref: MESH:C536851 {source="MONDO:equivalentTo"} xref: NCIT:C39789 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:717736007 {source="MONDO:equivalentTo"} is_a: EFO:0005708 {source="NCIT:C39789"} ! renal cell adenocarcinoma is_a: MONDO:0100191 ! inherited kidney disorder intersection_of: EFO:0000681 ! renal cell carcinoma intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch DOID:4455 property_value: exactMatch http://identifiers.org/mesh/C536851 property_value: exactMatch http://identifiers.org/snomedct/717736007 property_value: exactMatch NCIT:C39789 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9571/hereditary-renal-cell-carcinoma xsd:anyURI {source="GARD:0009571"} [Term] id: MONDO:0003019 name: potassium deficiency disease def: "Any disorder caused by an insufficient amount or availability of potassium, which generally manifests with myalgia, tetany, hypotension, polyuria, and polydipsia." [NCIT:P378] comment: Editor note: NCIT hypokalemia is a finding. We use potassium deficiency disorder for equivalence but this is listed as nutritional in NCIT synonym: "hypokalemia" EXACT [MONDO:ambiguous] synonym: "hypopotassemia" RELATED [DOID:4500] synonym: "potassium deficiency disorder" RELATED [DOID:4500] xref: DOID:4500 {source="MONDO:equivalentTo"} xref: HP:0002900 {source="MONDO:otherHierarchy"} xref: ICD10CM:E87.6 {source="MONDO:equivalentTo"} xref: ICD9:276.8 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D007008 {source="DOID:4500", source="MONDO:equivalentTo"} xref: NCIT:C34939 {source="DOID:4500", source="MONDO:equivalentTo"} xref: SCTID:43339004 {source="MONDO:equivalentTo"} xref: UMLS:C1514284 {source="DOID:4500", source="NCIT:C34939", source="MONDO:equivalentTo"} is_a: EFO:0001069 {source="NCIT:C34939"} ! nutritional disorder is_a: EFO:0009556 {source="DOID:4500"} ! mineral metabolism disease property_value: exactMatch DOID:4500 property_value: exactMatch http://identifiers.org/mesh/D007008 property_value: exactMatch http://identifiers.org/snomedct/43339004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1514284 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E87.6 property_value: exactMatch NCIT:C34939 [Term] id: MONDO:0003035 name: ovarian angiosarcoma def: "A malignant vascular neoplasm arising from the ovary." [NCIT:C5232] synonym: "angiosarcoma (disease) of ovary" EXACT [] synonym: "angiosarcoma of ovary" EXACT [NCIT:C5232] synonym: "angiosarcoma of the ovary" EXACT [NCIT:C5232] synonym: "hemangiosarcoma of ovary" EXACT [DOID:4527, NCIT:C5232] synonym: "hemangiosarcoma of the ovary" EXACT [NCIT:C5232] synonym: "ovarian hemangiosarcoma" EXACT [NCIT:C5232] synonym: "ovary angiosarcoma (disease)" EXACT [MONDO:patterns/location] xref: DOID:4527 {source="MONDO:equivalentTo"} xref: NCIT:C5232 {source="MONDO:equivalentTo", source="DOID:4527", source="MONDO:exact-label-match"} xref: UMLS:C1335152 {source="NCIT:C5232", source="MONDO:equivalentTo", source="DOID:4527"} is_a: EFO:0003968 {source="DOID:4527", source="MONDO:Redundant", source="NCIT:C5232/inferred"} ! angiosarcoma is_a: MONDO:0002225 {source="DOID:4527", source="MONDO:Redundant", source="NCIT:C5232"} ! ovarian sarcoma property_value: exactMatch DOID:4527 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335152 property_value: exactMatch NCIT:C5232 [Term] id: MONDO:0003036 name: mucoepidermoid carcinoma def: "A carcinoma morphologically characterized the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation. It can occur in several anatomic sites, including parotid gland, oral cavity, paranasal sinus, skin, breast, lung, larynx, and lacrimal ducts. It is classified as low or high grade." [NCIT:C3772] comment: Editor notes: classified as a salivary gland carcinoma in DO but not correct as there are other subtypes subset: gard_rare {source="GARD:0010671"} synonym: "MEC" EXACT ABBREVIATION [DOID:4531, NCIT:C3772] synonym: "MUCC" RELATED ABBREVIATION [ONCOTREE:MUCC] synonym: "mucoepidermoid carcinoma" EXACT [NCIT:C3772] synonym: "mucoepidermoid carcinoma (morphologic abnormality)" EXACT [DOID:4531] synonym: "mucoepidermoid tumor" EXACT [EFO:1001049, MESH:D018298] synonym: "mucoepidermoid tumors" RELATED [MESH:D018298] synonym: "mucoepidermoid tumour" EXACT OMO:0003005 [] synonym: "mucoepidermoid tumours" RELATED OMO:0003005 [] synonym: "tumor, mucoepidermoid" RELATED [MESH:D018298] synonym: "tumors, mucoepidermoid" RELATED [MESH:D018298] xref: DOID:163 {source="MONDO:equivalentObsolete", source="EFO:1001049"} xref: DOID:4531 {source="MONDO:equivalentTo"} xref: EFO:1001049 {source="MONDO:equivalentTo"} xref: ICDO:8430/1 {source="NCIT:C3772"} xref: ICDO:8430/3 {source="NCIT:C3772"} xref: MESH:D018277 {source="DOID:4531", source="MONDO:equivalentTo"} xref: MESH:D018298 {source="MONDO:equivalentTo", source="EFO:1001049"} xref: NCIT:C3772 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:MUCC {source="MONDO:equivalentTo"} xref: UMLS:C0206694 {source="DOID:4531", source="MONDO:equivalentTo", source="NCIT:C3772"} is_a: EFO:0000197 ! mucinous carcinoma is_a: EFO:1000889 {source="MESH:D018298"} ! cystic, mucinous, and serous neoplasm property_value: exactMatch DOID:4531 property_value: exactMatch http://identifiers.org/mesh/D018277 property_value: exactMatch http://identifiers.org/mesh/D018298 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206694 property_value: exactMatch NCIT:C3772 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10671/mucoepidermoid-carcinoma xsd:anyURI {source="GARD:0010671"} [Term] id: MONDO:0003037 name: hypotrichosis def: "A congenital condition, usually due to genetic aberrations, that is characterized by a lack of hair growth on the head and/or body." [NCIT:P378] xref: DOID:4535 {source="MONDO:equivalentTo"} xref: ICD9:704.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D007039 {source="MONDO:equivalentTo", source="DOID:4535"} xref: NCIT:C34720 {source="MONDO:equivalentTo", source="DOID:4535"} xref: OMIMPS:605389 {source="MONDO:equivalentTo", source="DOID:4535"} xref: SCTID:53602002 {source="MONDO:equivalentTo", source="DOID:4535"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0002917 {source="DOID:4535", source="MESH:D007039", source="NCIT:C34720/inferred"} ! disorder of pilosebaceous unit property_value: exactMatch DOID:4535 property_value: exactMatch http://identifiers.org/mesh/D007039 property_value: exactMatch http://identifiers.org/snomedct/53602002 property_value: exactMatch https://omim.org/phenotypicSeries/PS605389 property_value: exactMatch NCIT:C34720 [Term] id: MONDO:0003049 name: ovarian large-cell neuroendocrine carcinoma def: "A carcinoma that arises from the ovary and is characterized by the presence of large malignant cells exhibiting neuroendocrine differentiation. The prognosis is poor." [NCIT:P378] synonym: "large cell neuroendocrine carcinoma of ovary" EXACT [NCIT:C5238] synonym: "large cell neuroendocrine carcinoma of the ovary" EXACT [NCIT:C5238] synonym: "large-cell neuroendocrine carcinoma of ovary" EXACT [NCIT:C5238] synonym: "large-cell neuroendocrine carcinoma of the ovary" EXACT [NCIT:C5238] synonym: "non-small-cell type neuroendocrine carcinoma of ovary" EXACT [DOID:4555, NCIT:C5238] synonym: "non-small-cell type neuroendocrine carcinoma of the ovary" EXACT [NCIT:C5238] synonym: "ovarian large cell NEC" EXACT [NCIT:C5238] synonym: "ovarian large cell neuroendocrine carcinoma" EXACT [NCIT:C5238] synonym: "ovarian non-small-cell type neuroendocrine carcinoma" EXACT [NCIT:C5238] synonym: "ovary large cell neuroendocrine carcinoma" EXACT [MONDO:patterns/location] xref: DOID:4555 {source="MONDO:equivalentTo"} xref: NCIT:C5238 {source="DOID:4555", source="MONDO:equivalentTo"} xref: UMLS:C1335174 {source="DOID:4555", source="MONDO:equivalentTo", source="NCIT:C5238"} is_a: EFO:0000563 {source="MONDO:Redundant", source="NCIT:C5238"} ! large cell neuroendocrine carcinoma is_a: EFO:0001075 {source="DOID:4555", source="MONDO:Redundant", source="NCIT:C5238"} ! ovarian carcinoma is_a: MONDO:0002481 ! ovarian neuroendocrine neoplasm property_value: exactMatch DOID:4555 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335174 property_value: exactMatch NCIT:C5238 [Term] id: MONDO:0003059 name: bile duct cancer def: "A malignant neoplasm involving the bile duct" [https://orcid.org/0000-0002-6601-2165] synonym: "bile duct cancer" EXACT [MONDO:patterns/location] synonym: "bile duct tumor" BROAD [DOID:4606, NCIT:C2898] synonym: "bile duct tumour" BROAD OMO:0003005 [] synonym: "Ca extrahepatic bile ducts" EXACT [DOID:4606] synonym: "cancer of bile duct" EXACT [MONDO:patterns/cancer] synonym: "malignant bile duct neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of bile duct" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the extrahepatic bile duct" NARROW [DOID:4606, NCIT:C7483] xref: DOID:4606 {source="MONDO:equivalentTo"} xref: ICD9:156.1 {source="MONDO:relatedTo", source="DOID:4606"} xref: NCIT:C2898 {source="DOID:4606", source="MONDO:directSiblingOf"} xref: NCIT:C7483 {source="MONDO:relatedTo", source="DOID:4606"} xref: SCTID:363416002 {source="MONDO:relatedTo", source="DOID:4606"} xref: UMLS:C0005396 {source="DOID:4606", source="MONDO:directSiblingOf"} xref: UMLS:C0153453 {source="MONDO:relatedTo", source="DOID:4606"} is_a: MONDO:0003060 {source="DOID:4606", source="MONDO:Entailed", source="MONDO:Redundant"} ! biliary tract cancer is_a: MONDO:0021662 ! bile duct neoplasm property_value: exactMatch DOID:4606 [Term] id: MONDO:0003060 name: biliary tract cancer def: "A malignant neoplasm involving the biliary tree" [https://orcid.org/0000-0002-6601-2165] subset: gard_rare {source="GARD:0005924"} synonym: "biliary tree cancer" EXACT [MONDO:patterns/location] synonym: "cancer of biliary tree" EXACT [MONDO:patterns/cancer] synonym: "malignant biliary tree neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of biliary tree" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of biliary tract" EXACT [DOID:4607] synonym: "malignant tumour of biliary tract" EXACT OMO:0003005 [] xref: DOID:4607 {source="MONDO:equivalentTo"} xref: ICD9:156.9 {source="DOID:4607"} xref: SCTID:126853008 {source="MONDO:relatedTo", source="DOID:4607"} xref: UMLS:C0750952 {source="MONDO:relatedTo", source="DOID:4607"} is_a: EFO:0003891 ! biliary tract neoplasm is_a: MONDO:0002691 ! liver cancer property_value: exactMatch DOID:4607 property_value: gwas:trait "true" xsd:boolean property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5924/biliary-tract-cancer xsd:anyURI {source="GARD:0005924"} [Term] id: MONDO:0003061 name: benign muscle neoplasm alt_id: MONDO:0002393 def: "A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue." [NCIT:C4882] synonym: "benign muscle neoplasm" EXACT [NCIT:C4882] synonym: "benign muscle tumor" EXACT [NCIT:C4882] synonym: "benign muscle tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of muscle" EXACT [NCIT:C4882] synonym: "benign neoplasm of the muscle" EXACT [NCIT:C4882] synonym: "benign tumor of muscle" EXACT [NCIT:C4882] synonym: "benign tumor of the muscle" EXACT [NCIT:C4882] synonym: "benign tumour of muscle" EXACT OMO:0003005 [] synonym: "benign tumour of the muscle" EXACT OMO:0003005 [] synonym: "muscle benign neoplasm" RELATED [DOID:461] synonym: "muscle neoplasm" BROAD [DOID:461] synonym: "muscle tissue neoplasm" EXACT [DOID:461] synonym: "myoma" EXACT [NCIT:C4882] synonym: "myomatous tumor" BROAD [DOID:461, NCIT:C4063] synonym: "myomatous tumour" BROAD OMO:0003005 [] xref: DOID:2691 {source="MONDO:equivalentTo"} xref: DOID:461 {source="MONDO:equivalentTo"} xref: ICDO:8895/0 {source="NCIT:C4882"} xref: MESH:D009214 {source="MONDO:equivalentTo", source="DOID:2691"} xref: NCIT:C4882 {source="MONDO:equivalentTo", source="DOID:2691"} is_a: MONDO:0000636 {source="DOID:2691/inferred", source="DOID:461"} ! musculoskeletal system benign neoplasm is_a: MONDO:0021545 {source="MESH:D009214", source="MONDO:Redundant", source="NCIT:C4882"} ! myomatous neoplasm property_value: exactMatch DOID:2691 property_value: exactMatch DOID:461 property_value: exactMatch http://identifiers.org/mesh/D009214 property_value: exactMatch NCIT:C4882 [Term] id: MONDO:0003062 name: intestinal benign neoplasm def: "A benign neoplasm that involves the intestine." [MONDO:patterns/location] synonym: "benign intestinal neoplasm" EXACT [NCIT:C4609] synonym: "benign intestinal neoplasms" EXACT [NCIT:C4609] synonym: "benign intestinal tumor" EXACT [NCIT:C4609] synonym: "benign intestinal tumors" EXACT [NCIT:C4609] synonym: "benign intestinal tumour" EXACT OMO:0003005 [] synonym: "benign intestinal tumours" EXACT OMO:0003005 [] synonym: "benign intestine neoplasm" EXACT [NCIT:C4609] synonym: "benign intestine tumor" EXACT [NCIT:C4609] synonym: "benign intestine tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of intestines" EXACT [NCIT:C4609] synonym: "benign neoplasm of the intestines" EXACT [NCIT:C4609] synonym: "benign neoplasms of large and/or small intestine" EXACT [NCIT:C4609] synonym: "benign neoplasms of the large and/or small intestine" EXACT [NCIT:C4609] synonym: "benign tumor of intestines" EXACT [NCIT:C4609] synonym: "benign tumor of the intestines" EXACT [NCIT:C4609] synonym: "benign tumour of intestines" EXACT OMO:0003005 [] synonym: "benign tumour of the intestines" EXACT OMO:0003005 [] synonym: "intestinal neoplasms, benign" EXACT [NCIT:C4609] synonym: "intestinal tumors, benign" EXACT [NCIT:C4609] synonym: "intestine benign neoplasm" EXACT [MONDO:patterns/location] xref: NCIT:C4609 {source="MONDO:equivalentTo"} xref: SCTID:92151003 {source="MONDO:equivalentTo"} xref: UMLS:C0347269 {source="NCIT:C4609", source="MONDO:equivalentTo"} is_a: MONDO:0000385 {source="DOID:4610", source="MONDO:Redundant", source="NCIT:C4609"} ! benign digestive system neoplasm is_a: MONDO:0021118 {source="MONDO:Redundant", source="NCIT:C4609"} ! intestinal neoplasm property_value: exactMatch http://identifiers.org/snomedct/92151003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347269 property_value: exactMatch NCIT:C4609 [Term] id: MONDO:0003064 name: inverted transitional cell papilloma def: "A benign papillary neoplasm composed of transitional cells and characterized by an endophytic growth pattern." [NCIT:C4118] synonym: "inverted transitional cell papilloma" EXACT [NCIT:C4118] synonym: "inverted transitional papilloma" EXACT [NCIT:C4118] synonym: "transitional papilloma, inverted" EXACT [DOID:4630] xref: DOID:4630 {source="MONDO:equivalentTo"} xref: ICDO:8121/1 {source="NCIT:C4118"} xref: NCIT:C4118 {source="DOID:4630", source="MONDO:equivalentTo"} xref: UMLS:C0334269 {source="DOID:4630", source="MONDO:equivalentTo", source="NCIT:C4118"} is_a: EFO:0006497 {source="DOID:4630", source="MONDO:Redundant", source="NCIT:C4118"} ! transitional cell papilloma is_a: MONDO:0002537 {source="DOID:4630", source="MONDO:Redundant", source="NCIT:C4118"} ! inverted papilloma intersection_of: EFO:0006497 {source="NCIT:C4118"} ! transitional cell papilloma intersection_of: MONDO:0002537 {source="NCIT:C4118"} ! inverted papilloma property_value: exactMatch DOID:4630 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334269 property_value: exactMatch NCIT:C4118 [Term] id: MONDO:0003076 name: unilateral retinoblastoma def: "A retinoblastoma that only involves a single eye." [NCIT:C8714] xref: DOID:4651 {source="MONDO:equivalentTo"} xref: NCIT:C8714 {source="DOID:4651", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C0854915 {source="DOID:4651", source="MONDO:equivalentTo", source="NCIT:C8714"} is_a: MONDO:0008380 {source="DOID:4651", source="NCIT:C8714"} ! retinoblastoma property_value: exactMatch DOID:4651 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0854915 property_value: exactMatch NCIT:C8714 [Term] id: MONDO:0003079 name: mastocytoma def: "A localized tumor composed of sheets of mast cells without atypia. It includes the cutaneous mastocytoma which involves the dermis and subcutaneous tissue, and the extracutaneous mastocytoma. Most cases of extracutaneous mastocytoma have been reported in the lung." [NCIT:C9303] synonym: "mastocytoma" EXACT [NCIT:C9303] xref: ICD9:238.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9740/1 {source="NCIT:C9303"} xref: MESH:D034801 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: NCIT:C9303 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:404171008 {source="MONDO:equivalentTo"} xref: UMLS:C0024897 {source="NCIT:C9303", source="MONDO:equivalentTo"} is_a: EFO:0009000 {source="NCIT:C9303"} ! Mast Cell Neoplasm property_value: exactMatch http://identifiers.org/mesh/D034801 property_value: exactMatch http://identifiers.org/snomedct/404171008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024897 property_value: exactMatch NCIT:C9303 [Term] id: MONDO:0003081 name: thalamic disorder def: "A disorder of the thalamus. Causes include brain neoplasms, cerebrovascular disorders, brain trauma, brain hypoxia, infections, and brain hemorrhage. Signs and symptoms include movement and sensory abnormalities, visual abnormalities, ataxia, and coma." [NCIT:P378] synonym: "disease of dorsal plus ventral thalamus" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of dorsal plus ventral thalamus" EXACT [] synonym: "disorder of dorsal plus ventral thalamus" EXACT [MONDO:patterns/location_top] synonym: "dorsal plus ventral thalamus disease" EXACT [MONDO:patterns/location] synonym: "dorsal plus ventral thalamus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:4662 {source="MONDO:equivalentTo"} xref: MESH:D013786 {source="DOID:4662", source="MONDO:equivalentTo"} xref: NCIT:C85186 {source="DOID:4662", source="MONDO:equivalentTo"} xref: UMLS:C0039726 {source="DOID:4662", source="MONDO:equivalentTo", source="NCIT:C85186"} is_a: EFO:0005774 {source="DOID:4662", source="MESH:D013786", source="MONDO:Entailed", source="MONDO:Redundant"} ! brain disease property_value: exactMatch DOID:4662 property_value: exactMatch http://identifiers.org/mesh/D013786 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039726 property_value: exactMatch NCIT:C85186 [Term] id: MONDO:0003090 name: extrahepatic bile duct carcinoma def: "A carcinoma that arises from epithelial cells of the extrahepatic bile duct." [https://orcid.org/0000-0002-6601-2165] synonym: "carcinoma of extrahepatic bile duct" EXACT [MONDO:patterns/carcinoma, NCIT:C3860] synonym: "carcinoma of the extrahepatic bile duct" EXACT [NCIT:C3860] synonym: "extrahepatic bile duct cancer" EXACT [DOID:4682, NCIT:C3860] synonym: "extrahepatic bile duct carcinoma" EXACT [MONDO:patterns/location, NCIT:C3860] xref: DOID:4682 {source="MONDO:equivalentTo"} xref: NCIT:C3860 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4682"} xref: SCTID:372101000 {source="MONDO:equivalentTo", source="DOID:4682"} xref: UMLS:C0238019 {source="MONDO:equivalentTo", source="NCIT:C3860", source="DOID:4682"} is_a: EFO:0005540 {source="DOID:4682", source="MONDO:Redundant", source="NCIT:C3860"} ! bile duct carcinoma is_a: MONDO:0021321 {source="MONDO:Redundant", source="NCIT:C3860"} ! malignant tumor of extrahepatic bile duct property_value: exactMatch DOID:4682 property_value: exactMatch http://identifiers.org/snomedct/372101000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238019 property_value: exactMatch NCIT:C3860 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0003098 name: mediastinal neural neoplasm def: "A neurogenic tumor that arises from the mediastinum. Neural tumors are the most common tumors that arise from the posterior mediastinum. Representative examples include Schwannoma, neurofibroma, and neuroblastoma." [NCIT:C6624] synonym: "malignant mediastinal neurogenic neoplasm" RELATED [DOID:4691] synonym: "mediastinal neural neoplasm" EXACT [NCIT:C6624] synonym: "mediastinal neural tumor" EXACT [NCIT:C6624] synonym: "mediastinal neural tumour" EXACT OMO:0003005 [] synonym: "mediastinal neurogenic neoplasm" EXACT [NCIT:C6624] synonym: "mediastinal neurogenic tumor" EXACT [NCIT:C6624] synonym: "mediastinal neurogenic tumour" EXACT OMO:0003005 [] synonym: "neurogenic neoplasm of mediastinum" EXACT [NCIT:C6624] synonym: "neurogenic neoplasm of the mediastinum" EXACT [NCIT:C6624] synonym: "neurogenic tumor of mediastinum" EXACT [DOID:4691, NCIT:C6624] synonym: "neurogenic tumor of the mediastinum" EXACT [NCIT:C6624] synonym: "neurogenic tumour of mediastinum" EXACT OMO:0003005 [] synonym: "neurogenic tumour of the mediastinum" EXACT OMO:0003005 [] xref: DOID:4691 {source="MONDO:equivalentTo"} xref: NCIT:C6624 {source="MONDO:equivalentTo", source="DOID:4691"} xref: UMLS:C1334672 {source="MONDO:equivalentTo", source="NCIT:C6624", source="DOID:4691"} is_a: EFO:0002431 ! tumour of cranial and spinal nerves is_a: MONDO:0021386 {source="MONDO:Redundant", source="NCIT:C6624"} ! neoplasm of mediastinum property_value: exactMatch DOID:4691 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334672 property_value: exactMatch NCIT:C6624 [Term] id: MONDO:0003107 name: infratentorial cancer def: "Malignant neoplasms which arise or occur within the intracranial cavity below the tentorium cerebelli. This includes neoplasms within the brain and/or surrounding spaces." [NCIT:P378] synonym: "brain neoplasm, infratentorial" BROAD [DOID:4706, NCIT:C3139] synonym: "infratentorial neoplasms, malignant" EXACT [NCIT:C4966] synonym: "malignant infratentorial neoplasm" EXACT [NCIT:C4966] synonym: "malignant infratentorial tumor" EXACT [NCIT:C4966] synonym: "malignant infratentorial tumors" EXACT [DOID:4706, NCIT:C4966] synonym: "malignant infratentorial tumour" EXACT OMO:0003005 [] synonym: "malignant infratentorial tumours" EXACT OMO:0003005 [] xref: DOID:4706 {source="MONDO:equivalentTo"} xref: MESH:D015192 {source="MONDO:equivalentTo", source="DOID:4706"} xref: NCIT:C3139 {source="MONDO:relatedTo", source="DOID:4706"} xref: NCIT:C4966 {source="MONDO:equivalentTo", source="DOID:4706"} xref: UMLS:C0751593 {source="MONDO:equivalentTo", source="NCIT:C4966", source="DOID:4706"} is_a: MONDO:0001657 {source="DOID:4706", source="MESH:D015192", source="NCIT:C4966"} ! brain cancer property_value: exactMatch DOID:4706 property_value: exactMatch http://identifiers.org/mesh/D015192 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751593 property_value: exactMatch NCIT:C4966 [Term] id: MONDO:0003110 name: skin hemangioma def: "A hemangioma arising from the skin." [NCIT:C4905] synonym: "angioma of skin" EXACT [NCIT:C4905] synonym: "angioma of the skin" EXACT [DOID:471, NCIT:C4905] synonym: "angiomatous naevus of skin" EXACT [DOID:471] synonym: "hemangioma of skin" EXACT [NCIT:C4905] synonym: "hemangioma of the skin" EXACT [NCIT:C4905] synonym: "hemangioma of zone of skin" EXACT [MONDO:design_pattern] synonym: "skin angioma" EXACT [NCIT:C4905] synonym: "skin hemangioma" EXACT [NCIT:C4905] synonym: "zone of skin hemangioma" EXACT [MONDO:patterns/location] xref: DOID:471 {source="MONDO:equivalentTo"} xref: NCIT:C4905 {source="MONDO:equivalentTo", source="DOID:471", source="MONDO:exact-label-match"} xref: SCTID:93471006 {source="MONDO:equivalentTo", source="DOID:471"} xref: UMLS:C0687140 {source="NCIT:C4905", source="MONDO:equivalentTo", source="DOID:471"} is_a: EFO:1000635 {source="DOID:471", source="MONDO:Redundant", source="NCIT:C4905"} ! hemangioma is_a: MONDO:0024666 ! benign epithelial skin neoplasm property_value: exactMatch DOID:471 property_value: exactMatch http://identifiers.org/snomedct/93471006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0687140 property_value: exactMatch NCIT:C4905 [Term] id: MONDO:0003111 name: gastric neuroendocrine neoplasm def: "A neoplasm with neuroendocrine differentiation that arises from the stomach. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." [NCIT:C5696] comment: Some subtypes are malignant. synonym: "gastric neuroendocrine neoplasm" EXACT [NCIT:C5696] synonym: "NET of stomach" EXACT [Orphanet:100075] synonym: "neuroendocrine neoplasm of stomach" EXACT [MONDO:patterns/neuroendocrine_neoplasm, NCIT:C5696] synonym: "neuroendocrine neoplasm of the stomach" EXACT [NCIT:C5696] synonym: "neuroendocrine tumor of stomach" RELATED [Orphanet:100075] synonym: "neuroendocrine tumor of the stomach" EXACT [DOID:4715, NCIT:C5696] synonym: "neuroendocrine tumour of stomach" RELATED OMO:0003005 [] synonym: "neuroendocrine tumour of the stomach" EXACT OMO:0003005 [] synonym: "stomach NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "stomach neuroendocrine neoplasm" EXACT [MONDO:patterns/location, NCIT:C5696] synonym: "stomach neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm] synonym: "stomach neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "stomach neuroendocrine tumour" EXACT OMO:0003005 [] xref: DOID:4715 {source="MONDO:equivalentTo"} xref: NCIT:C5696 {source="MONDO:equivalentTo", source="DOID:4715", source="MONDO:exact-label-match"} xref: Orphanet:100075 {source="MONDO:equivalentTo"} xref: SCTID:721194008 {source="MONDO:equivalentTo"} xref: UMLS:C1333783 {source="MONDO:equivalentTo", source="NCIT:C5696", source="DOID:4715"} is_a: EFO:0003897 {source="MONDO:Redundant", source="NCIT:C5696"} ! stomach neoplasm is_a: MONDO:0024503 ! digestive system neuroendocrine neoplasm property_value: exactMatch DOID:4715 property_value: exactMatch http://identifiers.org/snomedct/721194008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333783 property_value: exactMatch NCIT:C5696 property_value: exactMatch Orphanet:100075 property_value: excluded_subClassOf MONDO:0002891 {source="DOID:4715"} [Term] id: MONDO:0003112 name: malignant gastric germ cell tumor def: "A malignant germ cell tumor that arises from the stomach. It includes choriocarcinoma and immature teratoma." [NCIT:C5486] synonym: "germ cell tumor of the stomach" EXACT [DOID:4716, NCIT:C6448] synonym: "germ cell tumour of the stomach" EXACT OMO:0003005 [] synonym: "malignant gastric germ cell neoplasm" EXACT [NCIT:C5486] synonym: "malignant gastric germ cell tumor" EXACT [NCIT:C5486] synonym: "malignant germ cell neoplasm of stomach" EXACT [NCIT:C5486] synonym: "malignant germ cell neoplasm of the stomach" EXACT [NCIT:C5486] synonym: "malignant germ cell tumor of stomach" EXACT [NCIT:C5486] synonym: "malignant germ cell tumor of the stomach" EXACT [NCIT:C5486] synonym: "malignant germ cell tumour of stomach" EXACT OMO:0003005 [] synonym: "malignant germ cell tumour of the stomach" EXACT OMO:0003005 [] xref: DOID:4716 {source="MONDO:equivalentTo"} xref: NCIT:C5486 {source="MONDO:equivalentTo"} xref: UMLS:C1333769 {source="MONDO:equivalentTo", source="DOID:4716"} xref: UMLS:C1334584 {source="NCIT:C5486", source="MONDO:equivalentTo"} is_a: MONDO:0001056 {source="DOID:4716", source="MONDO:Redundant", source="NCIT:C5486"} ! gastric cancer is_a: MONDO:0003113 {source="NCIT:C5486"} ! extragonadal germ cell cancer property_value: exactMatch DOID:4716 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333769 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334584 property_value: exactMatch NCIT:C5486 [Term] id: MONDO:0003113 name: extragonadal germ cell cancer def: "A malignant germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary." [NCIT:C8881] synonym: "extragonadal germ cell malignant tumor" EXACT [DOID:4717] synonym: "extragonadal germ cell malignant tumour" EXACT OMO:0003005 [] synonym: "extragonadal germ cell tumor, malignant" EXACT [MONDO:patterns/malignant] synonym: "malignant extragonadal germ cell tumor" EXACT [NCIT:C8881] synonym: "malignant extragonadal germ cell tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of extragonadal germ cell" EXACT [NCIT:C8881] synonym: "malignant neoplasm of the extragonadal germ cell" EXACT [NCIT:C8881] synonym: "malignant tumor of extragonadal germ cell" EXACT [NCIT:C8881] synonym: "malignant tumor of the extragonadal germ cell" EXACT [NCIT:C8881] synonym: "malignant tumour of extragonadal germ cell" EXACT OMO:0003005 [] synonym: "malignant tumour of the extragonadal germ cell" EXACT OMO:0003005 [] synonym: "tumor of extragonadal germ cell" RELATED [DOID:4717] synonym: "tumour of extragonadal germ cell" RELATED OMO:0003005 [] xref: DOID:4717 {source="MONDO:equivalentTo"} xref: NCIT:C8881 {source="MONDO:equivalentTo", source="DOID:4717"} xref: UMLS:C1334581 {source="MONDO:equivalentTo", source="DOID:4717"} is_a: EFO:1000352 {source="MONDO:Redundant", source="NCIT:C8881"} ! Malignant Germ Cell Tumor is_a: MONDO:0018201 {source="MONDO:Redundant", source="NCIT:C8881"} ! extragonadal germ cell tumor property_value: exactMatch DOID:4717 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334581 property_value: exactMatch NCIT:C8881 [Term] id: MONDO:0003122 name: striatonigral degeneration def: "A progressive neurodegenerative disorder caused by a disruption in the connection between the striatum and the substantia nigra. It is a type of multiple system atrophy (MSA). Signs and symptoms include rigidity, instability, impaired speech, and slow movements." [NCIT:C125695] xref: DOID:4751 {source="MONDO:equivalentTo"} xref: ICD10CM:G23.2 {source="DOID:4751", source="MONDO:equivalentTo"} xref: ICD9:333.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D020955 {source="DOID:4751", source="MONDO:equivalentTo"} xref: NCIT:C125695 {source="MONDO:equivalentTo"} xref: OMIMPS:271930 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: SCTID:29618004 {source="DOID:4751", source="MONDO:equivalentTo"} xref: UMLS:C0270733 {source="DOID:4751", source="MONDO:equivalentTo", source="NCIT:C125695"} is_a: EFO:1001050 {source="DOID:4751", source="MESH:D020955", source="NCIT:C125695"} ! multiple system atrophy is_a: MONDO:0019052 ! inborn errors of metabolism is_a: MONDO:0024237 ! inherited neurodegenerative disorder property_value: exactMatch DOID:4751 property_value: exactMatch http://identifiers.org/mesh/D020955 property_value: exactMatch http://identifiers.org/snomedct/29618004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270733 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G23.2 property_value: exactMatch https://omim.org/phenotypicSeries/PS271930 property_value: exactMatch NCIT:C125695 [Term] id: MONDO:0003125 name: testicular sex cord-stromal neoplasm def: "A benign or malignant tumor that arises from the testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the tumor or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, ten percent of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group." [NCIT:C6358] subset: ordo_disease {source="Orphanet:363489"} synonym: "sex cord-stromal neoplasm" RELATED [DOID:4757] synonym: "sex cord-stromal neoplasm of testis" RELATED [NCIT:C6358] synonym: "sex cord-stromal neoplasm of the testis" RELATED [NCIT:C6358] synonym: "sex cord-stromal tumor of testis" EXACT [DOID:4757, NCIT:C6358, Orphanet:363489] synonym: "sex cord-stromal tumor of the testis" RELATED [NCIT:C6358] synonym: "sex cord-stromal tumour of testis" EXACT OMO:0003005 [] synonym: "sex cord-stromal tumour of the testis" RELATED OMO:0003005 [] synonym: "testicular sex cord-stromal neoplasm" EXACT [NCIT:C6358] synonym: "testicular sex cord-stromal tumor" EXACT [NCIT:C6358, Orphanet:363489] synonym: "testicular sex cord-stromal tumour" EXACT OMO:0003005 [] synonym: "testis sex cord-stromal tumor" EXACT [MONDO:patterns/location] synonym: "testis sex cord-stromal tumour" EXACT OMO:0003005 [] xref: DOID:4757 {source="MONDO:equivalentTo"} xref: NCIT:C6358 {source="MONDO:equivalentTo", source="DOID:4757", source="NCIT:C6358"} xref: Orphanet:363489 {source="MONDO:equivalentTo"} xref: SCTID:702406000 {source="MONDO:equivalentTo", source="DOID:4757"} xref: UMLS:C3840076 {source="MONDO:equivalentTo", source="DOID:4757", source="NCIT:C6358"} xref: UMLS:CN204701 {source="MONDO:equivalentTo"} is_a: EFO:1000052 {source="DOID:4757", source="MONDO:Redundant", source="NCIT:C6358"} ! sex cord-stromal tumor is_a: MONDO:0018191 {source="Orphanet:363489"} ! tumor of testis and paratestis is_a: MONDO:0021348 {source="MONDO:Redundant", source="NCIT:C6358"} ! neoplasm of testis property_value: exactMatch DOID:4757 property_value: exactMatch http://identifiers.org/snomedct/702406000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3840076 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204701 property_value: exactMatch NCIT:C6358 property_value: exactMatch Orphanet:363489 [Term] id: MONDO:0003142 name: intracranial primitive neuroectodermal tumor def: "A primitive neuroectodermal tumor that involves the brain." [MONDO:patterns/location] synonym: "brain primitive neuroectodermal tumor" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "brain primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "intracranial PNET" EXACT [DOID:4788, NCIT:C5817] synonym: "intracranial primitive neuroectodermal neoplasm" EXACT [NCIT:C5817] synonym: "intracranial primitive neuroectodermal tumor" EXACT [NCIT:C5817] synonym: "primitive neuroectodermal tumor of brain" EXACT [MONDO:design_pattern] synonym: "primitive neuroectodermal tumour of brain" EXACT OMO:0003005 [] xref: DOID:4788 {source="MONDO:equivalentTo"} xref: NCIT:C5817 {source="MONDO:equivalentTo", source="DOID:4788"} xref: UMLS:C1334246 {source="NCIT:C5817", source="MONDO:equivalentTo", source="DOID:4788"} is_a: MONDO:0000640 {source="DOID:4788", source="MONDO:Redundant", source="NCIT:C5817"} ! central nervous system primitive neuroectodermal neoplasm is_a: MONDO:0001657 {source="MONDO:Redundant", source="NCIT:C5817"} ! brain cancer property_value: exactMatch DOID:4788 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334246 property_value: exactMatch NCIT:C5817 [Term] id: MONDO:0003143 name: angiokeratoma def: "A vascular lesion in the papillary dermis resulting from ectasia of pre-existing vessels. It is associated with secondary proliferative changes in the overlying epidermis (hyperkeratosis). It can present with widespread lesions (angiokeratoma corporis diffusum, often associated with inborn errors of metabolism) or as a localized lesion (angiokeratoma of Fordyce, angiokeratoma circumscriptum, and angiokeratoma of Mibelli)." [NCIT:P378] synonym: "angiokeratoma (morphologic abnormality)" EXACT [DOID:479] synonym: "angiokeratoma of skin" EXACT [NCIT:C4488] synonym: "angiokeratoma of the skin" EXACT [NCIT:C4488] synonym: "cutaneous angiokeratoma" EXACT [DOID:479, NCIT:C4488] synonym: "skin angiokeratoma" EXACT [DOID:479] xref: CSP:2007-0683 {source="DOID:479"} xref: DOID:479 {source="MONDO:equivalentTo"} xref: MESH:D000794 {source="DOID:479", source="MONDO:equivalentTo"} xref: NCIT:C2874 {source="DOID:479", source="MONDO:equivalentTo"} xref: NCIT:C4488 {source="DOID:479", source="MONDO:equivalentTo"} xref: SCTID:254788004 {source="DOID:479", source="MONDO:equivalentTo"} xref: UMLS:C0002985 {source="DOID:479", source="MONDO:equivalentTo"} xref: UMLS:C0346075 {source="DOID:479", source="MONDO:equivalentTo", source="NCIT:C4488"} is_a: MONDO:0003110 {source="DOID:479"} ! skin hemangioma property_value: exactMatch DOID:479 property_value: exactMatch http://identifiers.org/mesh/D000794 property_value: exactMatch http://identifiers.org/snomedct/254788004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002985 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346075 property_value: exactMatch NCIT:C2874 property_value: exactMatch NCIT:C4488 [Term] id: MONDO:0003157 name: disappearing bone disease def: "Syndromes of bone destruction where the cause is not obvious such as neoplasia, infection, or trauma. The destruction follows various patterns: massive (Gorham disease), multicentric (hajdu-cheney syndrome), or carpal/tarsal." [MESH:D010015] synonym: "essential osteolysis" EXACT [DOID:4837] synonym: "Gorham's disease" RELATED [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] synonym: "Gorham-Stout syndrome" RELATED [DOID:4837] synonym: "massive osteolysis" RELATED [DOID:4837] synonym: "phantom bone disease" EXACT [DOID:4837] xref: DOID:4837 {source="MONDO:equivalentTo"} xref: ICD9:733.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:240161003 {source="MONDO:equivalentTo", source="DOID:4837"} xref: UMLS:C0029436 {source="MONDO:equivalentTo", source="DOID:4837"} is_a: MONDO:0002254 {source="DOID:4837"} ! syndromic disease property_value: exactMatch DOID:4837 property_value: exactMatch http://identifiers.org/snomedct/240161003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029436 [Term] id: MONDO:0003158 name: malignant myoepithelioma def: "An infiltrating malignant tumor characterized by the presence of atypical cells with myoepithelial differentiation. Representative examples include malignant breast myoepithelioma and salivary gland myoepithelial carcinoma." [NCIT:C7596] subset: gard_rare {source="GARD:0010558"} synonym: "malignant myoepithelioma" EXACT [GARD:0010558, NCIT:C7596] synonym: "myoepithelial carcinoma" EXACT [NCIT:C7596] synonym: "myoepithelioma carcinoma" RELATED [GARD:0010558] synonym: "myoepithelioma, malignant" EXACT [NCIT:C7596] synonym: "soft tissue myoepithelial carcinoma" RELATED [ONCOTREE:STMYEC] xref: DOID:4838 {source="MONDO:equivalentTo"} xref: ICDO:8982/3 {source="NCIT:C7596"} xref: NCIT:C7596 {source="MONDO:equivalentTo", source="DOID:4838"} xref: ONCOTREE:STMYEC {source="MONDO:equivalentTo"} xref: UMLS:C0334699 {source="NCIT:C7596", source="MONDO:equivalentTo", source="DOID:4838"} is_a: EFO:0000313 {source="DOID:4838", source="NCIT:C7596"} ! carcinoma is_a: MONDO:0002380 {source="NCIT:C7596"} ! myoepithelial tumor property_value: exactMatch DOID:4838 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334699 property_value: exactMatch NCIT:C7596 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10558/myoepithelial-carcinoma xsd:anyURI {source="GARD:0010558"} [Term] id: MONDO:0003159 name: vascular hemostatic disease def: "Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of blood vessels, blood fluidity, and blood coagulation. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the vascular endothelium, the plasma proteins (including blood coagulation factors), and platelets." [MESH:D020141] synonym: "disorder, vascular hemostatic" EXACT [MESH:D020141] synonym: "disorders, vascular hemostatic" EXACT [MESH:D020141] synonym: "hemostatic disorder" EXACT [MESH:D020141] synonym: "hemostatic disorder, vascular" EXACT [MESH:D020141] synonym: "hemostatic disorders, vascular" EXACT [MESH:D020141] synonym: "vascular hemostatic disorder" EXACT [MESH:D020141] synonym: "vascular hemostatic disorders" EXACT [MESH:D020141] xref: DOID:484 {source="MONDO:equivalentTo"} xref: MESH:D020141 {source="MONDO:equivalentTo", source="DOID:484"} xref: SCTID:21112004 {source="MONDO:equivalentTo", source="DOID:484"} xref: UMLS:C0600502 {source="MONDO:equivalentTo", source="DOID:484"} is_a: EFO:0004264 {source="MESH:D020141"} ! vascular disease is_a: MONDO:0002243 {source="DOID:484", source="MESH:D020141", source="MONDO:Entailed", source="MONDO:Redundant"} ! hemorrhagic disease property_value: exactMatch DOID:484 property_value: exactMatch http://identifiers.org/mesh/D020141 property_value: exactMatch http://identifiers.org/snomedct/21112004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0600502 [Term] id: MONDO:0003165 name: cerebellar astrocytoma def: "Benign and malignant neoplasms of the cerebellum that arise from astrocytes. During childhood the majority are benign pilocytic astrocytomas. In adults both benign and relatively higher grade forms may occur. The most common presenting symptoms are headache, nausea, vomiting, ataxia of gait or limb, paresis, diplopia, and dizziness. Objective signs include weakness, long tract signs, dysmetria, gait ataxia, papilledema, and nystagmus. Surgical resection is often curative." [NCIT:C9475] synonym: "astrocytoma (excluding glioblastoma) of cerebellum" EXACT [MONDO:design_pattern] synonym: "astrocytoma of cerebellum" EXACT [DOID:4848, NCIT:C9475] synonym: "astrocytoma of the cerebellum" EXACT [NCIT:C9475] synonym: "astrocytoma, cerebellar" EXACT [NCIT:C9475] synonym: "cerebellar astrocytoma" EXACT [NCIT:C9475] synonym: "cerebellum astrocytoma" EXACT [MONDO:patterns/location] synonym: "cerebellum astrocytoma (excluding glioblastoma)" EXACT [MONDO:patterns/location] xref: DOID:4848 {source="MONDO:equivalentTo"} xref: NCIT:C9475 {source="MONDO:equivalentTo", source="DOID:4848"} xref: UMLS:C0740480 {source="NCIT:C9475", source="MONDO:equivalentTo", source="DOID:4848"} is_a: MONDO:0002913 {source="DOID:4848", source="MONDO:Redundant"} ! cerebellar neoplasm is_a: MONDO:0021631 {source="MONDO:Redundant", source="NCIT:C9475"} ! brain astrocytoma property_value: exactMatch DOID:4848 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0740480 property_value: exactMatch NCIT:C9475 property_value: excluded_subClassOf MONDO:0005499 {source="DOID:4848"} [Term] id: MONDO:0003168 name: cerebellar pilocytic astrocytoma def: "A WHO Grade 1 astrocytoma which arises in the cerebellum. The tumor is composed of spindle shaped cells with numerous collections of reddish astrocytic fibers called Rosenthal fibers. Over 80% or the cerebellar astrocytomas of childhood are pilocytic. Pilocytic astrocytomas may rarely occur in adults. They are usually treated by surgical resection and in most cases have a favorable prognosis." [NCIT:C6809] synonym: "cerebellar pilocytic astrocytoma" EXACT [DOID:4853, NCIT:C6809] synonym: "cerebellum pilocytic astrocytoma" EXACT [MONDO:patterns/location] synonym: "pilocytic astrocytoma of cerebellum" EXACT [NCIT:C6809] synonym: "pilocytic astrocytoma of the cerebellum" EXACT [NCIT:C6809] xref: DOID:4853 {source="MONDO:equivalentTo"} xref: NCIT:C6809 {source="DOID:4853", source="MONDO:equivalentTo"} xref: SCTID:277507004 {source="DOID:4853", source="MONDO:equivalentTo"} xref: UMLS:C0349620 {source="NCIT:C6809", source="DOID:4853", source="MONDO:equivalentTo"} is_a: MONDO:0000638 ! benign glioma is_a: MONDO:0003165 {source="DOID:4853", source="MONDO:Redundant", source="NCIT:C6809"} ! cerebellar astrocytoma is_a: MONDO:0016691 {source="DOID:4853", source="MONDO:Redundant", source="NCIT:C6809"} ! pilocytic astrocytoma is_a: MONDO:0021499 {source="NCIT:C6809"} ! benign neoplasm of cerebellum property_value: exactMatch DOID:4853 property_value: exactMatch http://identifiers.org/snomedct/277507004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349620 property_value: exactMatch NCIT:C6809 [Term] id: MONDO:0003169 name: diencephalic astrocytomas def: "A astrocytoma that involves the diencephalon." [MONDO:patterns/location] synonym: "astrocytoma (excluding glioblastoma) of diencephalon" EXACT [MONDO:design_pattern] synonym: "astrocytoma of diencephalon" EXACT [DOID:4855, NCIT:C5128] synonym: "astrocytoma of the diencephalon" EXACT [NCIT:C5128] synonym: "diencephalic astrocytoma" EXACT [NCIT:C5128] synonym: "diencephalon astrocytoma" EXACT [MONDO:patterns/location] synonym: "diencephalon astrocytoma (excluding glioblastoma)" EXACT [MONDO:patterns/location] xref: DOID:4855 {source="MONDO:equivalentTo"} xref: NCIT:C5128 {source="DOID:4855", source="MONDO:equivalentTo"} xref: UMLS:C1333284 {source="DOID:4855", source="MONDO:equivalentTo", source="NCIT:C5128"} is_a: MONDO:0002786 {source="DOID:4855", source="MONDO:Entailed", source="MONDO:Redundant"} ! diencephalic cancer is_a: MONDO:0005499 {source="DOID:4855", source="MONDO:Entailed", source="MONDO:Redundant"} ! brain glioma is_a: MONDO:0021631 {source="MONDO:Redundant", source="NCIT:C5128"} ! brain astrocytoma property_value: exactMatch DOID:4855 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333284 property_value: exactMatch NCIT:C5128 [Term] id: MONDO:0003173 name: brain stem astrocytic neoplasm def: "An astrocytoma that arises from the brain stem." [NCIT:P378] synonym: "astrocytoma (excluding glioblastoma) of brainstem" EXACT [MONDO:design_pattern] synonym: "brain stem astrocytoma" EXACT [NCIT:C7445] synonym: "brainstem astrocytoma" EXACT [DOID:4860, MONDO:patterns/location, NCIT:C7445] synonym: "brainstem astrocytoma (excluding glioblastoma)" EXACT [MONDO:patterns/location] xref: DOID:4860 {source="MONDO:equivalentTo"} xref: NCIT:C7445 {source="DOID:4860", source="MONDO:equivalentTo"} xref: SCTID:107581000119103 {source="DOID:4860", source="MONDO:equivalentTo"} xref: UMLS:C1332608 {source="DOID:4860", source="MONDO:equivalentTo", source="NCIT:C7445"} is_a: EFO:1000142 {source="DOID:4860", source="NCIT:C7445"} ! Brain Stem Glioma is_a: MONDO:0021631 {source="MONDO:Redundant", source="NCIT:C7445"} ! brain astrocytoma property_value: exactMatch DOID:4860 property_value: exactMatch http://identifiers.org/snomedct/107581000119103 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332608 property_value: exactMatch NCIT:C7445 [Term] id: MONDO:0003175 name: salivary gland adenoid cystic carcinoma def: "An adenoid cystic carcinoma arising from the salivary gland. It is characterized by the presence of epithelial and myoepithelial cells forming tubular, cribriform, and solid patterns. It usually presents as a slow growing mass. Patients may experience pain because of the tumor propensity for perineural invasion. The tumor may follow an aggressive clinical course with recurrences and mestastases to distant sites including lungs, bones, brain, and liver." [NCIT:C8026] synonym: "adenoid cystic cancer" BROAD [DOID:4866, NCIT:C2970] synonym: "adenoid cystic carcinoma (morphologic abnormality)" BROAD [DOID:4866] synonym: "adenoid cystic carcinoma of salivary gland" EXACT [NCIT:C8026] synonym: "adenoid cystic carcinoma of the salivary gland" EXACT [NCIT:C8026] synonym: "cylindroma (morphologic abnormality)" EXACT [DOID:4866] synonym: "saliva-secreting gland adenoid cystic carcinoma" EXACT [MONDO:patterns/location] synonym: "salivary gland adenoid cystic cancer" EXACT [NCIT:C8026] synonym: "salivary gland adenoid cystic carcinoma" EXACT [NCIT:C8026] xref: DOID:4866 {source="MONDO:equivalentTo"} xref: NCIT:C8026 {source="MONDO:equivalentTo"} xref: SCTID:422833009 {source="MONDO:equivalentTo"} xref: UMLS:C0279751 {source="NCIT:C8026", source="MONDO:equivalentTo"} is_a: EFO:0000231 {source="MONDO:Redundant", source="NCIT:C8026"} ! adenoid cystic carcinoma is_a: MONDO:0000521 {source="DOID:4866", source="MONDO:Redundant", source="NCIT:C8026"} ! salivary gland carcinoma property_value: exactMatch DOID:4866 property_value: exactMatch http://identifiers.org/snomedct/422833009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279751 property_value: exactMatch NCIT:C8026 [Term] id: MONDO:0003180 name: cutaneous adenocystic carcinoma def: "A adenoid cystic carcinoma that involves the skin of body." [MONDO:patterns/location] synonym: "adenoid cystic carcinoma of skin" EXACT [NCIT:C4471] synonym: "adenoid cystic carcinoma of the skin" EXACT [DOID:4871, NCIT:C4471] synonym: "adenoid cystic cutaneous carcinoma" EXACT [NCIT:C4471] synonym: "adenoid cystic eccrine carcinoma" EXACT [DOID:4871] synonym: "adenoid cystic eccrine carcinoma (morphologic abnormality)" EXACT [DOID:4871] synonym: "adenoid cystic eccrine carcinoma of skin" EXACT [DOID:4871] synonym: "adenoid cystic skin carcinoma" EXACT [NCIT:C4471] synonym: "primary cutaneous adenocystic carcinoma" EXACT [NCIT:C4471] synonym: "skin of body adenoid cystic carcinoma" EXACT [MONDO:patterns/location] xref: DOID:4871 {source="MONDO:equivalentTo"} xref: NCIT:C4471 {source="DOID:4871", source="MONDO:equivalentTo"} xref: SCTID:254711000 {source="DOID:4871", source="MONDO:equivalentTo"} xref: UMLS:C0346017 {source="DOID:4871", source="NCIT:C4471", source="MONDO:equivalentTo"} is_a: EFO:0000231 {source="MONDO:Redundant", source="NCIT:C4471"} ! adenoid cystic carcinoma is_a: EFO:0005591 {source="NCIT:C4471"} ! sweat gland carcinoma property_value: exactMatch DOID:4871 property_value: exactMatch http://identifiers.org/snomedct/254711000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346017 property_value: exactMatch NCIT:C4471 [Term] id: MONDO:0003181 name: lung adenoid cystic carcinoma def: "A rare usually indolent lung carcinoma characterized by a cribiform and tubular pattern and the presence of glandular epithelial cells. Clinical symptoms include shortness of breath, cough, wheeze, hemopytsis and chest pain." [NCIT:C5666] synonym: "adenocystic carcinoma of lung" EXACT [NCIT:C5666] synonym: "adenocystic carcinoma of the lung" EXACT [NCIT:C5666] synonym: "adenoid cystic carcinoma of lung" EXACT [DOID:4872, NCIT:C5666] synonym: "adenoid cystic carcinoma of the lung" EXACT [NCIT:C5666] synonym: "LUACC" RELATED ABBREVIATION [ONCOTREE:LUACC] synonym: "lung adenocystic carcinoma" EXACT [NCIT:C5666] synonym: "lung adenoid cystic cancer" EXACT [NCIT:C5666] synonym: "lung adenoid cystic carcinoma" EXACT [MONDO:patterns/location, NCIT:C5666] synonym: "pulmonary adenocystic carcinoma" EXACT [NCIT:C5666] synonym: "pulmonary adenoid cystic carcinoma" EXACT [DOID:4872, NCIT:C5666] xref: DOID:4872 {source="MONDO:equivalentTo"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C5666 {source="DOID:4872", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:LUACC {source="MONDO:equivalentTo"} xref: SCTID:707466008 {source="MONDO:equivalentTo"} xref: UMLS:C1334439 {source="DOID:4872", source="MONDO:equivalentTo", source="NCIT:C5666"} is_a: EFO:0000231 {source="MONDO:Redundant", source="NCIT:C5666"} ! adenoid cystic carcinoma is_a: EFO:0000571 ! lung adenocarcinoma property_value: exactMatch DOID:4872 property_value: exactMatch http://identifiers.org/snomedct/707466008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334439 property_value: exactMatch NCIT:C5666 [Term] id: MONDO:0003182 name: anterior horn disorder def: "Anterior horn disease is one of a number of medical disorders affecting the anterior horn of the spinal cord. Anterior horn diseases include spinal muscular atrophy, poliomyelitis and amyotrophic lateral sclerosis." [Wikipedia:Anterior_horn_disease] comment: TODO - check this. DO places as a subtype of SMA, but we invert this. Consider merging into MND synonym: "disease of ventral horn of spinal cord" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of ventral horn of spinal cord" EXACT [] synonym: "disorder of ventral horn of spinal cord" EXACT [MONDO:patterns/location_top] synonym: "ventral horn of spinal cord disease" EXACT [MONDO:patterns/location] synonym: "ventral horn of spinal cord disease or disorder" EXACT [MONDO:patterns/location] xref: DOID:4873 {source="MONDO:equivalentTo"} xref: ICD9:335 {source="DOID:4873"} xref: ICD9:335.9 {source="DOID:4873", source="MONDO:relatedTo"} xref: MESH:D016472 {source="DOID:4873", source="MONDO:relatedTo"} xref: SCTID:85672005 {source="DOID:4873", source="MONDO:relatedTo"} is_a: EFO:0009488 ! spinal cord disease property_value: exactMatch DOID:4873 property_value: gwas:trait "true" xsd:boolean property_value: relatedMatch http://identifiers.org/snomedct/85672005 [Term] id: MONDO:0003190 name: middle ear carcinoma def: "A carcinoma that arises from epithelial cells of the middle ear" [https://orcid.org/0000-0002-6601-2165] synonym: "carcinoma of middle Ear" EXACT [NCIT:C6089] synonym: "carcinoma of middle ear" EXACT [DOID:4893, MONDO:patterns/carcinoma] synonym: "carcinoma of the middle Ear" EXACT [NCIT:C6089] synonym: "carcinoma of the middle ear" EXACT [DOID:4893, NCIT:C6089] synonym: "middle Ear carcinoma" EXACT [NCIT:C6089] synonym: "middle ear carcinoma" EXACT [MONDO:patterns/location] xref: DOID:4893 {source="MONDO:equivalentTo"} xref: NCIT:C6089 {source="DOID:4893", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1334760 {source="DOID:4893", source="NCIT:C6089", source="MONDO:equivalentTo"} is_a: MONDO:0002038 {source="MONDO:Redundant", source="NCIT:C6089/inferred"} ! head and neck carcinoma is_a: MONDO:0003275 {source="DOID:4893", source="MONDO:Redundant", source="NCIT:C6089"} ! middle ear cancer property_value: exactMatch DOID:4893 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334760 property_value: exactMatch NCIT:C6089 [Term] id: MONDO:0003193 name: bile duct adenocarcinoma def: "A carcinoma that arises from glandular epithelial cells of the bile duct" [https://orcid.org/0000-0002-6601-2165] synonym: "bile duct adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C27813] xref: DOID:4896 {source="MONDO:equivalentTo"} xref: NCIT:C27813 {source="DOID:4896", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1370800 {source="DOID:4896", source="MONDO:equivalentTo", source="NCIT:C27813"} is_a: EFO:0005540 {source="DOID:4896", source="MONDO:Redundant", source="NCIT:C27813"} ! bile duct carcinoma is_a: MONDO:0018532 ! adenocarcinoma of liver and intrahepatic biliary tract property_value: exactMatch DOID:4896 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1370800 property_value: exactMatch NCIT:C27813 [Term] id: MONDO:0003194 name: hemangioma of lung def: "A hemangioma that involves the lung." [MONDO:patterns/location] synonym: "lung hemangioma" EXACT [MONDO:patterns/location] synonym: "pulmonary hemangioma" EXACT [DOID:490, NCIT:C7747] xref: DOID:490 {source="MONDO:equivalentTo"} is_a: EFO:1000635 {source="DOID:490", source="MONDO:Entailed", source="MONDO:Redundant"} ! hemangioma is_a: MONDO:0002732 {source="DOID:490", source="MONDO:Entailed", source="MONDO:Redundant"} ! lung benign neoplasm property_value: exactMatch DOID:490 [Term] id: MONDO:0003195 name: peritoneal serous adenocarcinoma def: "A rare, serous adenocarcinoma that arises from the lining of the peritoneum. It affects females. The clinical behavior and pathologic characteristics are similar to the serous adenocarcinoma that arises from the ovary." [NCIT:P378] synonym: "peritoneum serous adenocarcinoma" EXACT [MONDO:patterns/location] synonym: "primary peritoneal serous adenocarcinoma" NARROW [DOID:4901] xref: DOID:4901 {source="MONDO:equivalentTo"} xref: NCIT:C40023 {source="MONDO:relatedTo", source="DOID:4901"} xref: UMLS:C1514429 {source="MONDO:relatedTo", source="DOID:4901"} is_a: EFO:0003825 ! serous adenocarcinoma is_a: MONDO:0002113 {source="DOID:4901", source="MONDO:Entailed", source="MONDO:Redundant"} ! peritoneal carcinoma property_value: exactMatch DOID:4901 [Term] id: MONDO:0003196 name: appendix carcinoma def: "A carcinoma that arises from epithelial cells of the vermiform appendix" [https://orcid.org/0000-0002-6601-2165] synonym: "appendix cancer" BROAD [NCIT:C9330] synonym: "appendix carcinoma" EXACT [NCIT:C9330] synonym: "Ca appendix" EXACT [DOID:4902] synonym: "carcinoma of appendix" EXACT [DOID:4902, NCIT:C9330] synonym: "carcinoma of the appendix" EXACT [NCIT:C9330] synonym: "carcinoma of vermiform appendix" EXACT [MONDO:patterns/carcinoma] synonym: "vermiform appendix carcinoma" EXACT [MONDO:patterns/location] xref: DOID:4902 {source="MONDO:equivalentTo"} xref: NCIT:C9330 {source="MONDO:equivalentTo", source="DOID:4902"} xref: SCTID:448992002 {source="MONDO:equivalentTo"} xref: UMLS:C0728951 {source="MONDO:equivalentTo", source="DOID:4902"} is_a: EFO:1000021 ! cecum carcinoma is_a: MONDO:0001235 {source="DOID:4902", source="MONDO:Redundant", source="NCIT:C9330"} ! appendix cancer is_a: MONDO:0018511 ! epithelial tumor of the appendix property_value: exactMatch DOID:4902 property_value: exactMatch http://identifiers.org/snomedct/448992002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0728951 property_value: exactMatch NCIT:C9330 [Term] id: MONDO:0003197 name: granular cell carcinoma def: "An adenocarcinoma characterized by the presence of malignant epithelial cells with granular cytoplasm." [NCIT:C3681] synonym: "granular cell adenocarcinoma" EXACT [DOID:4903, NCIT:C3681] synonym: "granular cell carcinoma" EXACT [NCIT:C3681] synonym: "granular cell carcinoma (morphologic abnormality)" EXACT [DOID:4903] xref: DOID:4903 {source="MONDO:equivalentTo"} xref: ICDO:8320/3 {source="NCIT:C3681"} xref: NCIT:C3681 {source="NCIT:C3681", source="MONDO:equivalentTo", source="DOID:4903"} xref: UMLS:C0205644 {source="NCIT:C3681", source="MONDO:equivalentTo", source="DOID:4903"} is_a: EFO:0000228 {source="NCIT:C3681"} ! adenocarcinoma is_a: MONDO:0003252 ! granular cell cancer intersection_of: EFO:0000313 ! carcinoma intersection_of: EFO:1000284 ! Granular Cell Tumor property_value: exactMatch DOID:4903 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205644 property_value: exactMatch NCIT:C3681 [Term] id: MONDO:0003199 name: anal carcinoma def: "A carcinoma that arises from epithelial cells of the anus" [https://orcid.org/0000-0002-6601-2165] synonym: "anal cancer" BROAD [NCIT:C9291] synonym: "anal carcinoma" EXACT [NCIT:C9291] synonym: "anus carcinoma" EXACT [MONDO:patterns/location] synonym: "Ca anus" BROAD [DOID:4908] synonym: "cancer of anus" BROAD [NCIT:C9291] synonym: "cancer of the anus" BROAD [NCIT:C9291] synonym: "carcinoma of anus" EXACT [DOID:4908, MONDO:patterns/carcinoma, NCIT:C9291] synonym: "carcinoma of the anus" EXACT [NCIT:C9291] xref: DOID:4908 {source="MONDO:equivalentTo"} xref: NCIT:C9291 {source="DOID:4908", source="MONDO:equivalentTo"} xref: SCTID:448315008 {source="MONDO:equivalentTo"} xref: UMLS:C0279637 {source="DOID:4908", source="MONDO:equivalentTo", source="NCIT:C9291"} is_a: MONDO:0001879 {source="DOID:4908", source="MONDO:Redundant", source="NCIT:C9291"} ! anus cancer is_a: MONDO:0044937 ! rectal carcinoma property_value: exactMatch DOID:4908 property_value: exactMatch http://identifiers.org/snomedct/448315008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279637 property_value: exactMatch NCIT:C9291 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0003200 name: urethra adenocarcinoma def: "A carcinoma that arises from glandular epithelial cells of the urethra" [https://orcid.org/0000-0002-6601-2165] synonym: "adenocarcinoma of the urethra" EXACT [DOID:4910, NCIT:C6167] synonym: "adenocarcinoma of urethra" EXACT [NCIT:C6167] synonym: "UAD" RELATED ABBREVIATION [ONCOTREE:UAD] synonym: "urethra adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6167] synonym: "urethral adenocarcinoma" EXACT [NCIT:C6167] xref: DOID:4910 {source="MONDO:equivalentTo"} xref: NCIT:C6167 {source="DOID:4910", source="MONDO:equivalentTo"} xref: ONCOTREE:UAD {source="MONDO:equivalentTo"} xref: UMLS:C1336885 {source="NCIT:C6167", source="DOID:4910", source="MONDO:equivalentTo"} is_a: EFO:0000228 {source="DOID:4910", source="MONDO:Redundant", source="NCIT:C6167"} ! adenocarcinoma is_a: MONDO:0021327 {source="MONDO:Redundant", source="NCIT:C6167"} ! carcinoma of urethra property_value: exactMatch DOID:4910 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336885 property_value: exactMatch NCIT:C6167 [Term] id: MONDO:0003204 name: villous adenocarcinoma def: "An adenocarcinoma characterized by the presence of a villous architectural pattern. It may arise from a villous adenoma." [NCIT:C4142] synonym: "villous adenocarcinoma" EXACT [NCIT:C4142] synonym: "villous adenocarcinoma (morphologic abnormality)" EXACT [DOID:4917] xref: DOID:4917 {source="MONDO:equivalentTo"} xref: ICDO:8262/3 {source="NCIT:C4142"} xref: NCIT:C4142 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4917"} xref: UMLS:C0334306 {source="NCIT:C4142", source="MONDO:equivalentTo", source="DOID:4917"} is_a: EFO:0000228 {source="DOID:4917", source="NCIT:C4142"} ! adenocarcinoma property_value: exactMatch DOID:4917 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334306 property_value: exactMatch NCIT:C4142 [Term] id: MONDO:0003206 name: acquired hemangioma def: "A hemangioma that is not present at birth but develops later in life." [NCIT:C27018] synonym: "acquired hemangioma" EXACT [MONDO:patterns/acquired, NCIT:C27018] xref: DOID:492 {source="MONDO:equivalentTo"} xref: NCIT:C27018 {source="MONDO:equivalentTo", source="DOID:492", source="MONDO:exact-label-match"} xref: UMLS:C0856897 {source="MONDO:equivalentTo", source="DOID:492", source="NCIT:C27018"} is_a: EFO:1000635 {source="DOID:492", source="MONDO:Redundant", source="NCIT:C27018"} ! hemangioma intersection_of: EFO:1000635 ! hemangioma intersection_of: has_characteristic MONDO:0021141 ! acquired relationship: has_characteristic MONDO:0021141 ! acquired property_value: exactMatch DOID:492 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0856897 property_value: exactMatch NCIT:C27018 [Term] id: MONDO:0003212 name: nasal cavity carcinoma def: "A carcinoma that arises from epithelial cells of the nasal cavity" [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of nasal cavity" BROAD [DOID:4931, NCIT:C9336] synonym: "cancer of the nasal cavity" BROAD [NCIT:C9336] synonym: "carcinoma of nasal cavity" EXACT [DOID:4931, MONDO:patterns/carcinoma, NCIT:C9336] synonym: "carcinoma of the nasal cavity" EXACT [NCIT:C9336] synonym: "nasal cavity cancer" BROAD [NCIT:C9336] synonym: "nasal cavity carcinoma" EXACT [MONDO:patterns/location, NCIT:C9336] xref: DOID:4931 {source="MONDO:equivalentTo"} xref: NCIT:C9336 {source="MONDO:equivalentTo", source="DOID:4931"} xref: SCTID:448990005 {source="MONDO:equivalentTo"} xref: UMLS:C1377785 {source="MONDO:equivalentTo", source="DOID:4931"} is_a: MONDO:0001128 {source="DOID:4931", source="MONDO:Redundant", source="NCIT:C9336"} ! nasal cavity cancer is_a: MONDO:0002038 {source="MONDO:Redundant", source="NCIT:C9336/inferred"} ! head and neck carcinoma property_value: exactMatch DOID:4931 property_value: exactMatch http://identifiers.org/snomedct/448990005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1377785 property_value: exactMatch NCIT:C9336 [Term] id: MONDO:0003214 name: apocrine adenocarcinoma def: "A carcinoma with apocrine differentiation arising from the sweat glands. It presents as single or multiple nodular lesions which may be ulcerated or hemorrhagic and is usually in the axilla and less often in the anogenital region. It grows in the dermis and infiltrates subcutaneous tissues. It is characterized by the presence of large cells with abundant eosinophilic cytoplasm and large often vesicular nuclei. Most cases are slow growing tumors and have a prolonged course." [NCIT:P378] synonym: "apocrine adenocarcinoma (morphologic abnormality)" EXACT [DOID:4933] synonym: "apocrine carcinoma" EXACT [DOID:4933, NCIT:C4169] synonym: "apocrine gland adenocarcinoma" EXACT [MONDO:patterns/location] synonym: "apocrine gland carcinoma" EXACT [DOID:4933, NCIT:C4169] synonym: "carcinoma of apocrine gland" EXACT [NCIT:C4169] synonym: "carcinoma of the apocrine gland" EXACT [DOID:4933, NCIT:C5575] xref: DOID:4933 {source="MONDO:equivalentTo"} xref: ICDO:8401/3 {source="NCIT:C4169"} xref: NCIT:C4169 {source="MONDO:equivalentTo"} xref: UMLS:C0334346 {source="MONDO:equivalentTo", source="DOID:4933"} xref: UMLS:C1706827 {source="MONDO:equivalentTo", source="NCIT:C4169"} is_a: EFO:0005591 {source="DOID:4933", source="MONDO:Redundant", source="NCIT:C4169"} ! sweat gland carcinoma is_a: MONDO:0003215 {source="DOID:4933", source="NCIT:C4169"} ! apocrine sweat gland cancer property_value: exactMatch DOID:4933 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334346 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1706827 property_value: exactMatch NCIT:C4169 [Term] id: MONDO:0003215 name: apocrine sweat gland cancer def: "A malignant neoplasm involving the apocrine sweat gland." [https://orcid.org/0000-0002-6601-2165] synonym: "apocrine sweat gland cancer" EXACT [MONDO:patterns/location] synonym: "cancer of apocrine sweat gland" EXACT [MONDO:patterns/cancer] synonym: "malignant apocrine neoplasm" EXACT [NCIT:C6800] synonym: "malignant apocrine neoplasm of skin" EXACT [NCIT:C6800] synonym: "malignant apocrine neoplasm of the skin" EXACT [NCIT:C6800] synonym: "malignant apocrine skin neoplasm" EXACT [NCIT:C6800] synonym: "malignant apocrine skin tumor" EXACT [NCIT:C6800] synonym: "malignant apocrine skin tumour" EXACT OMO:0003005 [] synonym: "malignant apocrine sweat gland neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant apocrine tumor" EXACT [DOID:4934, NCIT:C6800] synonym: "malignant apocrine tumor of skin" EXACT [NCIT:C6800] synonym: "malignant apocrine tumor of the skin" EXACT [NCIT:C6800] synonym: "malignant apocrine tumour" EXACT OMO:0003005 [] synonym: "malignant apocrine tumour of skin" EXACT OMO:0003005 [] synonym: "malignant apocrine tumour of the skin" EXACT OMO:0003005 [] synonym: "malignant neoplasm of apocrine sweat gland" EXACT [MONDO:patterns/cancer] xref: DOID:4934 {source="MONDO:equivalentTo"} xref: NCIT:C6800 {source="MONDO:equivalentTo", source="DOID:4934"} xref: UMLS:C1334561 {source="MONDO:equivalentTo", source="DOID:4934"} is_a: MONDO:0002206 {source="DOID:4934", source="MONDO:Redundant", source="NCIT:C6800"} ! sweat gland cancer is_a: MONDO:0003686 {source="MONDO:Redundant", source="NCIT:C6800"} ! apocrine sweat gland neoplasm property_value: exactMatch DOID:4934 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334561 property_value: exactMatch NCIT:C6800 [Term] id: MONDO:0003218 name: adenocarcinoma in situ def: "A lesion in which the normally situated glands are partially or completely replaced by atypical cells with malignant characteristics." [NCIT:C4123] synonym: "adenocarcinoma in situ" EXACT [NCIT:C4123] synonym: "AIS" RELATED ABBREVIATION [ONCOTREE:AIS] xref: DOID:4943 {source="MONDO:equivalentTo"} xref: ICDO:8140/2 {source="NCIT:C4123"} xref: MESH:D065311 {source="DOID:4943", source="MONDO:equivalentTo"} xref: NCIT:C4123 {source="DOID:4943", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:AIS {source="MONDO:equivalentTo"} xref: UMLS:C0334276 {source="DOID:4943", source="MONDO:equivalentTo", source="NCIT:C4123"} is_a: EFO:0000228 {source="MESH:D065311", source="MONDO:Redundant", source="NCIT:C4123"} ! adenocarcinoma is_a: MONDO:0004647 {source="DOID:4943", source="MESH:D065311", source="MONDO:Redundant", source="NCIT:C4123"} ! in situ carcinoma intersection_of: EFO:0000228 {source="NCIT:C4123"} ! adenocarcinoma intersection_of: MONDO:0004647 {source="NCIT:C4123"} ! in situ carcinoma property_value: exactMatch DOID:4943 property_value: exactMatch http://identifiers.org/mesh/D065311 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334276 property_value: exactMatch NCIT:C4123 [Term] id: MONDO:0003219 name: gastroesophageal junction adenocarcinoma def: "A carcinoma that arises from glandular epithelial cells of the esophagogastric junction." [https://orcid.org/0000-0002-6601-2165] synonym: "adenocarcinoma - GEJ" EXACT [NCIT:C9296] synonym: "adenocarcinoma of cardioesophageal junction" EXACT [DOID:4944, NCIT:C9296] synonym: "adenocarcinoma of gastroesophageal junction" EXACT [DOID:4944, NCIT:C9296] synonym: "adenocarcinoma of the cardioesophageal junction" EXACT [NCIT:C9296] synonym: "adenocarcinoma of the EG junction" EXACT [NCIT:C9296] synonym: "adenocarcinoma of the esophagogastric junction" EXACT [NCIT:C9296] synonym: "adenocarcinoma of the gastroesophageal junction" EXACT [NCIT:C9296] synonym: "adenocarcinoma of the GE junction" EXACT [NCIT:C9296] synonym: "esophagogastric adenocarcinoma" RELATED [ONCOTREE:EGC] synonym: "esophagogastric junction adenocarcinoma" EXACT [MONDO:patterns/location] synonym: "gastroesophageal junction adenocarcinoma" EXACT [NCIT:C9296] xref: DOID:4944 {source="MONDO:equivalentTo"} xref: NCIT:C9296 {source="MONDO:equivalentTo", source="DOID:4944", source="MONDO:exact-label-match"} xref: ONCOTREE:EGC {source="MONDO:equivalentTo"} xref: ONCOTREE:GEJ {source="MONDO:equivalentTo"} xref: UMLS:C1332166 {source="MONDO:equivalentTo", source="DOID:4944", source="NCIT:C9296"} is_a: EFO:0000228 {source="DOID:4944", source="MONDO:Redundant", source="NCIT:C9296"} ! adenocarcinoma is_a: EFO:1000218 {source="NCIT:C9296"} ! Digestive System Carcinoma property_value: exactMatch DOID:4944 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332166 property_value: exactMatch NCIT:C9296 [Term] id: MONDO:0003222 name: central nervous system melanocytic neoplasm def: "A primary tumor of the central nervous system that arises from leptomeningeal melanocytes. It may present as a diffuse proliferative leptomeningeal process (often as a component of the neurocutaneous melanosis complex) or as a distinct mass lesion." [NCIT:C5504] synonym: "central nervous system melanocytic neoplasm" EXACT [MONDO:patterns/location, NCIT:C5504] synonym: "central nervous system melanocytic neoplasms" EXACT [NCIT:C5504] synonym: "central nervous system melanocytic tumor" EXACT [NCIT:C5504] synonym: "central nervous system melanocytic tumour" EXACT OMO:0003005 [] synonym: "central nervous system primary melanocytic lesion" RELATED [DOID:4955] synonym: "CNS melanocytic neoplasm" EXACT [NCIT:C5504] synonym: "CNS melanocytic tumor" EXACT [NCIT:C5504] synonym: "CNS melanocytic tumour" EXACT OMO:0003005 [] synonym: "melanocytic neoplasm of central nervous system" EXACT [NCIT:C5504] synonym: "melanocytic neoplasm of CNS" EXACT [NCIT:C5504] synonym: "melanocytic neoplasm of the central nervous system" EXACT [NCIT:C5504] synonym: "melanocytic neoplasm of the CNS" EXACT [NCIT:C5504] synonym: "melanocytic tumor of central nervous system" EXACT [NCIT:C5504] synonym: "melanocytic tumor of CNS" EXACT [NCIT:C5504] synonym: "melanocytic tumor of the central nervous system" EXACT [NCIT:C5504] synonym: "melanocytic tumor of the CNS" EXACT [DOID:4955, NCIT:C5504] synonym: "melanocytic tumour of central nervous system" EXACT OMO:0003005 [] synonym: "melanocytic tumour of CNS" EXACT OMO:0003005 [] synonym: "melanocytic tumour of the central nervous system" EXACT OMO:0003005 [] synonym: "melanocytic tumour of the CNS" EXACT OMO:0003005 [] synonym: "primary melanocytic lesion of meninges" RELATED [DOID:4955] synonym: "primary melanocytic lesions of the CNS" RELATED [DOID:4955, NCIT:C4661] xref: DOID:4955 {source="MONDO:equivalentTo"} xref: EFO:1000493 {source="MONDO:equivalentTo"} xref: NCIT:C5504 {source="MONDO:equivalentTo", source="DOID:4955", source="MONDO:exact-label-match"} xref: SCTID:277523004 {source="MONDO:equivalentTo", source="DOID:4955"} xref: UMLS:C1332887 {source="MONDO:equivalentTo", source="DOID:4955", source="NCIT:C5504"} is_a: EFO:0000326 {source="DOID:4955"} ! central nervous system cancer is_a: MONDO:0021143 {source="MONDO:Redundant", source="NCIT:C5504"} ! melanocytic neoplasm property_value: exactMatch DOID:4955 property_value: exactMatch http://identifiers.org/snomedct/277523004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332887 property_value: exactMatch NCIT:C5504 [Term] id: MONDO:0003223 name: meninges hemangiopericytoma def: "A solitary fibrous tumor/hemangiopericytoma that arises from the meninges." [NCIT:C4660] synonym: "hemangiopericytoma of meninges" EXACT [NCIT:C4660] synonym: "hemangiopericytoma of the central nervous system" RELATED [ONCOTREE:HPCCNS] synonym: "hemangiopericytoma of the meninges" EXACT [NCIT:C4660] synonym: "meningeal cluster hemangiopericytoma" EXACT [MONDO:patterns/location] synonym: "meningeal cluster spindle cell tumor" EXACT [MONDO:patterns/location] synonym: "meningeal cluster spindle cell tumour" EXACT OMO:0003005 [] synonym: "meningeal hemangiopericytoma" EXACT [DOID:4957, NCIT:C4660] synonym: "meningeal solitary fibrous tumor/hemangiopericytoma" EXACT [NCIT:C4660] synonym: "meninges hemangiopericytoma" EXACT [NCIT:C4660] xref: DOID:4957 {source="MONDO:equivalentTo"} xref: NCIT:C4660 {source="MONDO:equivalentTo", source="DOID:4957"} xref: ONCOTREE:HPCCNS {source="MONDO:equivalentTo"} xref: SCTID:277522009 {source="MONDO:equivalentTo", source="DOID:4957"} xref: UMLS:C0349622 {source="NCIT:C4660", source="MONDO:equivalentTo", source="DOID:4957"} is_a: MONDO:0005094 {source="DOID:4957", source="MONDO:Entailed", source="MONDO:Redundant"} ! hemangiopericytoma is_a: MONDO:0021322 ! malignant tumor of meninges property_value: exactMatch DOID:4957 property_value: exactMatch http://identifiers.org/snomedct/277522009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349622 property_value: exactMatch NCIT:C4660 [Term] id: MONDO:0003225 name: bone marrow disorder def: "Any disease of the bone marrow." [NCIT:C34433] synonym: "bone marrow disease" EXACT [MONDO:patterns/location, NCIT:C34433] synonym: "bone marrow disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "bone marrow disorder" EXACT [DOID:4961, NCIT:C34433] synonym: "disease of bone marrow" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of bone marrow" EXACT [] synonym: "disorder of bone marrow" EXACT [MONDO:patterns/location_top] xref: DOID:4961 {source="MONDO:equivalentTo"} xref: ICD9:289.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D001855 {source="DOID:4961", source="MONDO:equivalentTo"} xref: NCIT:C34433 {source="DOID:4961", source="MONDO:equivalentTo"} xref: SCTID:127035006 {source="DOID:4961", source="MONDO:equivalentTo"} xref: UMLS:C0005956 {source="DOID:4961", source="MONDO:equivalentTo", source="NCIT:C34433"} is_a: EFO:0000540 ! immune system disease is_a: EFO:0002461 ! skeletal system disease is_a: EFO:0005803 {source="DOID:4961", source="MESH:D001855", source="MONDO:Entailed", source="MONDO:Redundant"} ! hematologic disease property_value: exactMatch DOID:4961 property_value: exactMatch http://identifiers.org/mesh/D001855 property_value: exactMatch http://identifiers.org/snomedct/127035006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005956 property_value: exactMatch NCIT:C34433 [Term] id: MONDO:0003236 name: atypical polypoid adenomyoma def: "An adenomyoma characterized by the presence of marked glandular architectural complexity." [NCIT:P378] synonym: "atypical polypoid adenomyoma" EXACT [DOID:4993, NCIT:C6895] synonym: "atypical polypoid adenomyoma (morphologic abnormality)" EXACT [DOID:4993] xref: DOID:4993 {source="MONDO:equivalentTo"} xref: NCIT:C6895 {source="DOID:4993", source="MONDO:equivalentTo"} xref: UMLS:C1300347 {source="DOID:4993", source="MONDO:equivalentTo", source="NCIT:C6895"} is_a: EFO:0007133 {source="DOID:4993", source="NCIT:C6895"} ! adenomyoma property_value: exactMatch DOID:4993 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1300347 property_value: exactMatch NCIT:C6895 [Term] id: MONDO:0003237 name: adenomyoma of uterine corpus def: "A usually polypoid, benign neoplasm that arises from the uterine corpus. It is characterized by the presence of benign epithelial glands embedded in benign fibromyomatous tissue." [NCIT:P378] synonym: "adenomyoma of body of uterus" EXACT [NCIT:C6338] synonym: "adenomyoma of corpus uteri" EXACT [DOID:4994, NCIT:C6338] synonym: "adenomyoma of the body of uterus" EXACT [NCIT:C6338] synonym: "adenomyoma of the corpus uteri" EXACT [NCIT:C6338] synonym: "adenomyoma of the uterine body" EXACT [NCIT:C6338] synonym: "adenomyoma of the uterine corpus" EXACT [NCIT:C6338] synonym: "adenomyoma of uterine body" EXACT [NCIT:C6338] synonym: "adenomyoma of uterine corpus" EXACT [NCIT:C6338] synonym: "body of uterus adenomyoma" EXACT [MONDO:patterns/location] synonym: "corpus uteri adenomyoma" EXACT [NCIT:C6338] synonym: "uterine body adenomyoma" EXACT [NCIT:C6338] synonym: "uterine corpus adenomyoma" EXACT [NCIT:C6338] xref: DOID:4994 {source="MONDO:equivalentTo"} xref: NCIT:C6338 {source="DOID:4994", source="MONDO:equivalentTo"} xref: UMLS:C1336903 {source="DOID:4994", source="MONDO:equivalentTo", source="NCIT:C6338"} is_a: EFO:0007133 {source="DOID:4994", source="MONDO:Redundant", source="NCIT:C6338"} ! adenomyoma is_a: MONDO:0021525 ! benign neoplasm of corpus uteri property_value: exactMatch DOID:4994 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336903 property_value: exactMatch NCIT:C6338 property_value: excluded_subClassOf MONDO:0006003 {source="DOID:4994"} [Term] id: MONDO:0003241 name: central nervous system hemangioma def: "A hemangioma arising from the brain and spinal cord." [NCIT:C7004] synonym: "central nervous system hemangioma" EXACT [MONDO:patterns/location, NCIT:C7004] synonym: "hemangioma of central nervous system" EXACT [NCIT:C7004] synonym: "hemangioma of CNS" EXACT [DOID:501, NCIT:C7004] synonym: "hemangioma of the central nervous system" EXACT [NCIT:C7004] synonym: "hemangioma of the CNS" EXACT [NCIT:C7004] xref: DOID:501 {source="MONDO:equivalentTo"} xref: NCIT:C7004 {source="DOID:501", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1333957 {source="DOID:501", source="NCIT:C7004", source="MONDO:equivalentTo"} is_a: EFO:1000635 {source="DOID:501", source="MONDO:Redundant", source="NCIT:C7004"} ! hemangioma is_a: MONDO:0000628 ! central nervous system organ benign neoplasm is_a: MONDO:0043218 ! neurovascular disorder property_value: exactMatch DOID:501 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333957 property_value: exactMatch NCIT:C7004 [Term] id: MONDO:0003243 name: hepatocellular clear cell carcinoma def: "A morphologic variant of hepatocellular carcinoma characterized by the presence of clear cells." [NCIT:P378] synonym: "clear cell carcinoma of liver cells" EXACT [NCIT:C5754] synonym: "clear cell carcinoma of the liver cells" EXACT [DOID:5016, NCIT:C5754] synonym: "clear cell hepatocellular cancer" EXACT [NCIT:C5754] synonym: "clear cell hepatocellular carcinoma" EXACT [NCIT:C5754] synonym: "hepatocellular clear cell carcinoma" EXACT [NCIT:C5754] synonym: "liver cell clear cell carcinoma" EXACT [NCIT:C5754] xref: DOID:5016 {source="MONDO:equivalentTo"} xref: ICDO:8174/3 {source="NCIT:C5754"} xref: NCIT:C5754 {source="DOID:5016", source="MONDO:equivalentTo"} xref: UMLS:C1333067 {source="DOID:5016", source="MONDO:equivalentTo", source="NCIT:C5754"} is_a: EFO:0000182 {source="DOID:5016", source="DOID:5016/inferred", source="MONDO:Redundant", source="NCIT:C5754"} ! hepatocellular carcinoma is_a: EFO:0000348 {source="MONDO:Redundant", source="NCIT:C5754"} ! clear cell adenocarcinoma intersection_of: EFO:0000182 ! hepatocellular carcinoma intersection_of: EFO:0000348 ! clear cell adenocarcinoma property_value: exactMatch DOID:5016 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333067 property_value: exactMatch NCIT:C5754 [Term] id: MONDO:0003244 name: central nervous system mesenchymal non-meningothelial tumor def: "A benign or malignant mesenchymal neoplasm originating in the central nervous system or the meninges and showing fibrous, fibrohistiocytic, adipose, myoid, endothelial, chondroid or osseous, but not meningothelial differentiation. Depending on the histological features and clinical behavior of these neoplasms, their grade ranges from benign (WHO grade I) to highly malignant (WHO grade IV). (Adapted from WHO)" [NCIT:P378] synonym: "central nervous system mesenchymal, non-meningothelial neoplasm" EXACT [NCIT:C5449] synonym: "central nervous system mesenchymal, non-meningothelial tumor" EXACT [NCIT:C5449] synonym: "central nervous system mesenchymal, non-meningothelial tumour" EXACT OMO:0003005 [] synonym: "central nervous system soft tissue neoplasm" EXACT [NCIT:C5449] synonym: "central nervous system soft tissue tumor" EXACT [NCIT:C5449] synonym: "central nervous system soft tissue tumour" EXACT OMO:0003005 [] synonym: "CNS soft tissue neoplasm" EXACT [NCIT:C5449] synonym: "CNS soft tissue tumor" EXACT [NCIT:C5449] synonym: "CNS soft tissue tumour" EXACT OMO:0003005 [] synonym: "mesenchymal non-meningothelial tumor of the central nervous system" EXACT [NCIT:C5449] synonym: "mesenchymal non-meningothelial tumour of the central nervous system" EXACT OMO:0003005 [] synonym: "mesenchymal, non-meningothelial tumor of central nervous system" EXACT [NCIT:C5449] synonym: "mesenchymal, non-meningothelial tumor of CNS" EXACT [NCIT:C5449] synonym: "mesenchymal, non-meningothelial tumor of the CNS" EXACT [NCIT:C5449] synonym: "mesenchymal, non-meningothelial tumour of central nervous system" EXACT OMO:0003005 [] synonym: "mesenchymal, non-meningothelial tumour of CNS" EXACT OMO:0003005 [] synonym: "mesenchymal, non-meningothelial tumour of the CNS" EXACT OMO:0003005 [] synonym: "non-meningothelial mesenchymal tumor" EXACT [DOID:502, NCIT:C6972] synonym: "non-meningothelial mesenchymal tumour" EXACT OMO:0003005 [] synonym: "soft tissue neoplasm of central nervous system" EXACT [NCIT:C5449] synonym: "soft tissue neoplasm of CNS" EXACT [NCIT:C5449] synonym: "soft tissue neoplasm of the central nervous system" EXACT [NCIT:C5449] synonym: "soft tissue neoplasm of the CNS" EXACT [NCIT:C5449] synonym: "soft tissue tumor of central nervous system" EXACT [NCIT:C5449] synonym: "soft tissue tumor of CNS" EXACT [NCIT:C5449] synonym: "soft tissue tumor of the central nervous system" EXACT [NCIT:C5449] synonym: "soft tissue tumor of the CNS" EXACT [NCIT:C5449] synonym: "soft tissue tumour of central nervous system" EXACT OMO:0003005 [] synonym: "soft tissue tumour of CNS" EXACT OMO:0003005 [] synonym: "soft tissue tumour of the central nervous system" EXACT OMO:0003005 [] synonym: "soft tissue tumour of the CNS" EXACT OMO:0003005 [] xref: DOID:502 {source="MONDO:equivalentTo"} xref: NCIT:C5449 {source="MONDO:equivalentTo"} xref: UMLS:C1332893 {source="MONDO:equivalentTo", source="NCIT:C5449"} is_a: EFO:1000541 {source="NCIT:C5449"} ! Soft Tissue Neoplasm property_value: exactMatch DOID:502 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332893 property_value: exactMatch NCIT:C5449 property_value: excluded_subClassOf MONDO:0002714 {source="DOID:502"} [Term] id: MONDO:0003249 name: pineal gland cancer def: "Abnormal malignant growth of the cells that comprise the pineal parenchyma." [NCIT:C3573] synonym: "cancer of pineal body" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of pineal body" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of pineal gland" EXACT [NCIT:C3573] synonym: "malignant neoplasm of the pineal gland" EXACT [NCIT:C3573] synonym: "malignant pineal area neoplasm" EXACT [NCIT:C3573] synonym: "malignant pineal area tumor" EXACT [NCIT:C3573] synonym: "malignant pineal area tumour" EXACT OMO:0003005 [] synonym: "malignant pineal body neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant pineal gland neoplasm" EXACT [NCIT:C3573] synonym: "malignant pineal gland tumor" EXACT [NCIT:C3573] synonym: "malignant pineal gland tumour" EXACT OMO:0003005 [] synonym: "malignant pineal region neoplasm" EXACT [NCIT:C3573] synonym: "malignant pineal region tumor" EXACT [DOID:5032, NCIT:C3573] synonym: "malignant pineal region tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of pineal gland" EXACT [DOID:5032, NCIT:C3573] synonym: "malignant tumor of the pineal gland" EXACT [NCIT:C3573] synonym: "malignant tumour of pineal gland" EXACT OMO:0003005 [] synonym: "malignant tumour of the pineal gland" EXACT OMO:0003005 [] synonym: "neoplasm of the pineal region" BROAD [DOID:5032] synonym: "pineal body cancer" EXACT [MONDO:patterns/location] synonym: "pinealoma" RELATED [DOID:5032] synonym: "pineocytic tumor" BROAD [DOID:5032] synonym: "pineocytic tumour" BROAD OMO:0003005 [] synonym: "tumor of the pineal region" BROAD [DOID:5032] synonym: "tumour of the pineal region" BROAD OMO:0003005 [] xref: DOID:5032 {source="MONDO:equivalentTo"} xref: ICD9:194.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:5032"} xref: NCIT:C3573 {source="MONDO:equivalentTo", source="DOID:5032"} xref: NCIT:C6965 {source="DOID:5032", source="MONDO:directSiblingOf"} xref: SCTID:363483004 {source="MONDO:equivalentTo", source="DOID:5032"} xref: UMLS:C0031941 {source="DOID:5032", source="MONDO:directSiblingOf"} is_a: MONDO:0003766 ! thalamic cancer is_a: MONDO:0021069 ! malignant endocrine neoplasm is_a: MONDO:0021232 {source="MONDO:Redundant", source="NCIT:C3573"} ! pineal body neoplasm property_value: exactMatch DOID:5032 property_value: exactMatch http://identifiers.org/snomedct/363483004 property_value: exactMatch NCIT:C3573 [Term] id: MONDO:0003252 name: granular cell cancer def: "An uncommon granular cell tumor which may metastasize to other anatomic sites. Morphologic characteristics include the presence of spindling neoplastic cells, necrosis, extensive pleomorphism, prominent nucleoli, and increased mitiotic activity." [NCIT:P378] synonym: "granular cell tumor, malignant" EXACT [MONDO:patterns/malignant, NCIT:C4336] synonym: "granular cell tumor, malignant (morphologic abnormality)" EXACT [DOID:5042] synonym: "malignant granular cell myoblastoma" EXACT [MONDO:0021087, NCIT:C4336] synonym: "malignant granular cell neoplasm" EXACT [DOID:5042, NCIT:C4336] synonym: "malignant granular cell tumor" EXACT [NCIT:C4336] synonym: "malignant granular cell tumour" EXACT OMO:0003005 [] synonym: "myoblastoma, malignant" EXACT [NCIT:C4336] xref: DOID:5042 {source="MONDO:equivalentTo"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9580/3 {source="NCIT:C4336"} xref: NCIT:C4336 {source="MONDO:equivalentTo", source="DOID:5042"} xref: SCTID:404041003 {source="MONDO:equivalentTo", source="DOID:5042"} xref: UMLS:C0334618 {source="MONDO:equivalentTo", source="NCIT:C4336", source="DOID:5042"} is_a: EFO:1000284 {source="MONDO:Redundant", source="NCIT:C4336"} ! Granular Cell Tumor is_a: MONDO:0021089 ! peripheral nervous system cancer is_a: MONDO:0100342 ! malignant glioma property_value: exactMatch DOID:5042 property_value: exactMatch http://identifiers.org/snomedct/404041003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334618 property_value: exactMatch NCIT:C4336 [Term] id: MONDO:0003257 name: posterior pituitary gland neoplasm def: "A low-grade neoplasm that arises from the neurohypophysis. It includes the granular cell tumor of the neurohypophysis and pituicytoma." [NCIT:C7157] synonym: "neoplasm of neurohypophysis" EXACT [MONDO:patterns/neoplasm] synonym: "Neurohypophysis neoplasm" EXACT [NCIT:C7157] synonym: "neurohypophysis neoplasm" EXACT [] synonym: "neurohypophysis neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "Neurohypophysis tumor" EXACT [NCIT:C7157] synonym: "neurohypophysis tumor" EXACT [MONDO:patterns/neoplasm] synonym: "Neurohypophysis tumour" EXACT OMO:0003005 [] synonym: "neurohypophysis tumour" EXACT OMO:0003005 [] synonym: "PITUICYTOMA, benign" EXACT [NCIT:C7157] synonym: "posterior pituitary gland neoplasm" EXACT [NCIT:C7157] synonym: "posterior pituitary gland tumor" EXACT [NCIT:C7157] synonym: "posterior pituitary gland tumour" EXACT OMO:0003005 [] synonym: "posterior pituitary neoplasm" EXACT [NCIT:C7157] synonym: "posterior pituitary tumor" EXACT [DOID:5048, NCIT:C7157] synonym: "posterior pituitary tumour" EXACT OMO:0003005 [] synonym: "tumor of neurohypophysis" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of neurohypophysis" EXACT OMO:0003005 [] xref: DOID:5048 {source="MONDO:equivalentTo"} xref: NCIT:C7157 {source="DOID:5048", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1334957 {source="DOID:5048", source="NCIT:C7157", source="MONDO:equivalentTo"} is_a: MONDO:0017611 {source="MONDO:Redundant", source="NCIT:C7157"} ! pituitary tumor is_a: MONDO:0100070 ! neuroendocrine disorder property_value: exactMatch DOID:5048 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334957 property_value: exactMatch NCIT:C7157 [Term] id: MONDO:0003263 name: childhood cerebellar neoplasm def: "A neoplasm that affects the cerebellum and occurs during childhood." [NCIT:C5970] synonym: "childhood cerebellar neoplasm" EXACT [NCIT:C5970] synonym: "childhood cerebellar neoplasms" EXACT [NCIT:C5970] synonym: "childhood cerebellar tumor" EXACT [NCIT:C5970] synonym: "childhood cerebellar tumors" EXACT [NCIT:C5970] synonym: "childhood cerebellar tumour" EXACT OMO:0003005 [] synonym: "childhood cerebellar tumours" EXACT OMO:0003005 [] synonym: "childhood neoplasm of cerebellum" EXACT [NCIT:C5970] synonym: "childhood neoplasm of the cerebellum" EXACT [NCIT:C5970] synonym: "childhood tumor of cerebellum" EXACT [NCIT:C5970] synonym: "childhood tumor of the cerebellum" EXACT [NCIT:C5970] synonym: "childhood tumour of cerebellum" EXACT OMO:0003005 [] synonym: "childhood tumour of the cerebellum" EXACT OMO:0003005 [] synonym: "paediatric cerebellar neoplasm" EXACT OMO:0003005 [] synonym: "paediatric cerebellar tumour" EXACT OMO:0003005 [] synonym: "paediatric neoplasm of cerebellum" EXACT OMO:0003005 [] synonym: "paediatric neoplasm of the cerebellum" EXACT OMO:0003005 [] synonym: "paediatric tumour of cerebellum" EXACT OMO:0003005 [] synonym: "paediatric tumour of the cerebellum" EXACT OMO:0003005 [] synonym: "pediatric cerebellar neoplasm" EXACT [NCIT:C5970] synonym: "pediatric cerebellar tumor" EXACT [NCIT:C5970] synonym: "pediatric neoplasm of cerebellum" EXACT [NCIT:C5970] synonym: "pediatric neoplasm of the cerebellum" EXACT [NCIT:C5970] synonym: "pediatric tumor of cerebellum" EXACT [DOID:5059, NCIT:C5970] synonym: "pediatric tumor of the cerebellum" EXACT [NCIT:C5970] xref: DOID:5059 {source="MONDO:equivalentTo"} xref: NCIT:C5970 {source="DOID:5059", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1332959 {source="DOID:5059", source="NCIT:C5970", source="MONDO:equivalentTo"} is_a: MONDO:0002913 {source="DOID:5059", source="MONDO:Redundant", source="NCIT:C5970"} ! cerebellar neoplasm is_a: MONDO:0002915 {source="MONDO:Redundant", source="NCIT:C5970"} ! childhood infratentorial neoplasm intersection_of: MONDO:0002913 {source="NCIT:C5970"} ! cerebellar neoplasm intersection_of: MONDO:0002915 {source="NCIT:C5970"} ! childhood infratentorial neoplasm property_value: exactMatch DOID:5059 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332959 property_value: exactMatch NCIT:C5970 [Term] id: MONDO:0003265 name: adjustment disorder def: "A category of psychiatric disorders which are characterized by emotional or behavioral symptoms that develop within 3 months of a stressor and do not persist for more than an additional 6 months after the stressor is no longer present." [NCIT:C92191] synonym: "adaptation reaction" RELATED [] synonym: "adjustment disease" EXACT [DOID:507] synonym: "adjustment disorder" EXACT [MESH:D000275, NCIT:C92191] synonym: "adjustment reaction" EXACT [DOID:507] synonym: "disorder, adjustment" RELATED [MESH:D000275] synonym: "disorder, reactive" RELATED [MESH:D000275] synonym: "disorders, adjustment" RELATED [MESH:D000275] synonym: "disorders, reactive" RELATED [MESH:D000275] xref: DOID:507 {source="MONDO:equivalentTo"} xref: ICD9:309 {source="DOID:507"} xref: ICD9:309.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:309.9 {source="DOID:507", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D000275 {source="MONDO:equivalentTo"} xref: NCIT:C92191 {source="MONDO:equivalentTo"} xref: SCTID:17226007 {source="DOID:507", source="MONDO:equivalentTo"} is_a: EFO:0000677 ! mental or behavioural disorder property_value: exactMatch DOID:507 property_value: exactMatch http://identifiers.org/mesh/D000275 property_value: exactMatch http://identifiers.org/snomedct/17226007 property_value: exactMatch NCIT:C92191 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0003268 name: mixed glioma def: "A tumor composed of two or more glial cell types (astrocytes, ependymal cells, and oligodendrocytes)." [NCIT:C3903] synonym: "glioma, mixed" EXACT [NCIT:C3903] synonym: "glioma, mixed, malignant" EXACT [NCIT:C3903] synonym: "mixed glial neoplasm" EXACT [NCIT:C3903] synonym: "mixed glial tumor" EXACT [NCIT:C3903] synonym: "mixed glial tumour" EXACT OMO:0003005 [] synonym: "mixed glioma" EXACT [NCIT:C3903] synonym: "mixed glioma (morphologic abnormality)" EXACT [DOID:5076] synonym: "mixed gliomas" EXACT [DOID:5076, MTH:NOCODE] synonym: "mixed neuroglial neoplasm" EXACT [NCIT:C3903] synonym: "mixed neuroglial tumor" EXACT [DOID:5076, NCIT:C3903] synonym: "mixed neuroglial tumour" EXACT OMO:0003005 [] xref: DOID:5076 {source="MONDO:equivalentTo"} xref: ICDO:9382/3 {source="NCIT:C3903"} xref: NCIT:C3903 {source="MONDO:equivalentTo", source="DOID:5076"} xref: SCTID:443937008 {source="MONDO:equivalentTo", source="DOID:5076"} xref: UMLS:C0259783 {source="NCIT:C3903", source="MONDO:equivalentTo", source="DOID:5076"} is_a: EFO:0005543 {source="NCIT:C3903/inferred"} ! glioma is_a: MONDO:0021043 {source="NCIT:C3903"} ! mixed neoplasm property_value: exactMatch DOID:5076 property_value: exactMatch http://identifiers.org/snomedct/443937008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0259783 property_value: exactMatch NCIT:C3903 [Term] id: MONDO:0003274 name: thoracic cancer def: "A primary or metastatic malignant neoplasm affecting the tissues of the thorax." [NCIT:C3576] synonym: "cancer of thoracic segment of trunk" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the thorax" EXACT [NCIT:C3576] synonym: "malignant neoplasm of thoracic segment of trunk" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of thorax" EXACT [NCIT:C3576] synonym: "malignant thoracic neoplasm" EXACT [NCIT:C3576] synonym: "malignant thoracic segment of trunk neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant thoracic tumor" EXACT [NCIT:C3576] synonym: "malignant thoracic tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of the thorax" EXACT [NCIT:C3576] synonym: "malignant tumor of thorax" EXACT [NCIT:C3576] synonym: "malignant tumour of the thorax" EXACT OMO:0003005 [] synonym: "malignant tumour of thorax" EXACT OMO:0003005 [] synonym: "thoracic segment of trunk cancer" EXACT [MONDO:patterns/location] synonym: "thoracic tumor" BROAD [DOID:5093, NCIT:C3406] synonym: "thoracic tumour" BROAD OMO:0003005 [] synonym: "thorax cancer" EXACT [DOID:5093] synonym: "thorax neoplasm" BROAD [DOID:5093] synonym: "tumor of thorax" BROAD [DOID:5093] synonym: "tumour of thorax" BROAD OMO:0003005 [] xref: DOID:5093 {source="MONDO:equivalentTo"} xref: ICD9:195.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:5093"} xref: NCIT:C3576 {source="MONDO:equivalentTo", source="DOID:5093"} xref: SCTID:188361007 {source="MONDO:equivalentTo", source="DOID:5093"} xref: UMLS:C0153661 {source="MONDO:equivalentTo", source="NCIT:C3576", source="DOID:5093"} is_a: MONDO:0004992 {source="DOID:5093", source="DOID:5093/inferred", source="MONDO:Redundant"} ! cancer is_a: MONDO:0021350 {source="MONDO:Redundant", source="NCIT:C3576"} ! neoplasm of thorax property_value: exactMatch DOID:5093 property_value: exactMatch http://identifiers.org/snomedct/188361007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153661 property_value: exactMatch NCIT:C3576 [Term] id: MONDO:0003275 name: middle ear cancer def: "A malignant neoplasm involving the middle ear" [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of middle ear" EXACT [MONDO:patterns/cancer] synonym: "malignant middle ear neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant middle Ear tumor" EXACT [NCIT:C4765] synonym: "malignant middle Ear tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of middle ear" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the middle Ear" EXACT [NCIT:C4765] synonym: "malignant tumor of middle Ear" EXACT [NCIT:C4765] synonym: "malignant tumor of the middle Ear" EXACT [NCIT:C4765] synonym: "malignant tumour of middle Ear" EXACT OMO:0003005 [] synonym: "malignant tumour of the middle Ear" EXACT OMO:0003005 [] synonym: "middle ear cancer" EXACT [MONDO:patterns/location] synonym: "tumor of the middle ear" BROAD [DOID:5099, NCIT:C4412] synonym: "tumour of the middle ear" BROAD OMO:0003005 [] xref: DOID:5099 {source="MONDO:equivalentTo"} xref: NCIT:C4765 {source="MONDO:equivalentTo"} xref: SCTID:363359008 {source="MONDO:equivalentTo"} is_a: MONDO:0003277 {source="MONDO:Redundant", source="NCIT:C4765"} ! malignant ear neoplasm is_a: MONDO:0004532 ! auditory system cancer is_a: MONDO:0021366 {source="MONDO:Redundant", source="NCIT:C4765"} ! neoplasm of middle ear property_value: exactMatch DOID:5099 property_value: exactMatch http://identifiers.org/snomedct/363359008 property_value: exactMatch NCIT:C4765 [Term] id: MONDO:0003276 name: middle ear disorder def: "A disease involving the middle ear." [https://orcid.org/0000-0002-6601-2165] synonym: "disease of middle ear" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of middle ear" EXACT [] synonym: "disorder of middle ear" EXACT [MONDO:patterns/location_top] synonym: "middle ear disease" EXACT [MONDO:patterns/location] synonym: "middle ear disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "middle Ear disorder" EXACT [NCIT:C27065] xref: DOID:5100 {source="MONDO:equivalentTo"} xref: ICD10CM:H65-H75 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: NCIT:C27065 {source="MONDO:equivalentTo", source="DOID:5100"} xref: SCTID:68996008 {source="MONDO:equivalentTo", source="DOID:5100"} xref: UMLS:C0271428 {source="NCIT:C27065", source="MONDO:equivalentTo", source="DOID:5100"} is_a: EFO:1001455 {source="DOID:5100"} ! auditory system disease is_a: MONDO:0021205 {source="MONDO:Redundant", source="NCIT:C27065"} ! disorder of ear property_value: exactMatch DOID:5100 property_value: exactMatch http://identifiers.org/snomedct/68996008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271428 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H65-H75 property_value: exactMatch NCIT:C27065 [Term] id: MONDO:0003277 name: malignant ear neoplasm def: "A malignant neoplasm that affects the ear. Representative examples include ceruminous adenocarcinoma and squamous cell carcinoma of the external ear and adenocarcinoma of the middle ear." [NCIT:P378] synonym: "auricular cancer" RELATED [DOID:5101] synonym: "cancer of ear" EXACT [MONDO:patterns/cancer] synonym: "ear cancer" EXACT [MONDO:patterns/location] synonym: "malignant Ear neoplasm" EXACT [NCIT:C9337] synonym: "malignant ear neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant Ear tumor" EXACT [NCIT:C9337] synonym: "malignant Ear tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of Ear" EXACT [NCIT:C9337] synonym: "malignant neoplasm of ear" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the Ear" EXACT [NCIT:C9337] synonym: "malignant tumor of Ear" EXACT [NCIT:C9337] synonym: "malignant tumor of ear" EXACT [DOID:5101, NCIT:C9337] synonym: "malignant tumor of the Ear" EXACT [NCIT:C9337] synonym: "malignant tumour of Ear" EXACT OMO:0003005 [] synonym: "malignant tumour of ear" EXACT OMO:0003005 [] synonym: "malignant tumour of the Ear" EXACT OMO:0003005 [] xref: DOID:5101 {source="MONDO:equivalentTo"} xref: MESH:D004428 {source="DOID:5101", source="MONDO:equivalentTo"} xref: NCIT:C9337 {source="MONDO:equivalentTo"} xref: SCTID:443648003 {source="MONDO:equivalentTo"} xref: UMLS:C0751094 {source="DOID:5101", source="MONDO:equivalentTo", source="NCIT:C9337"} is_a: EFO:0006859 {source="MONDO:Redundant", source="NCIT:C9337"} ! head and neck malignant neoplasia is_a: MONDO:0000649 ! sensory system cancer is_a: MONDO:0021233 {source="MONDO:Redundant", source="NCIT:C9337"} ! ear neoplasm property_value: exactMatch DOID:5101 property_value: exactMatch http://identifiers.org/mesh/D004428 property_value: exactMatch http://identifiers.org/snomedct/443648003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751094 property_value: exactMatch NCIT:C9337 property_value: excluded_subClassOf MONDO:0004532 {source="DOID:5101"} [Term] id: MONDO:0003291 name: leiomyoma cutis def: "A benign smooth muscle neoplasm arising from the arrector pili muscle, tunica media of blood vessels, and dartos muscle of the genitalia. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:P378] synonym: "cutaneous (skin) leiomyoma" EXACT [NCIT:C4482] synonym: "cutaneous leiomyoma" EXACT [NCIT:C4482] synonym: "leiomyoma cutis" EXACT [NCIT:C4482] synonym: "leiomyoma of skin" EXACT [NCIT:C4482] synonym: "leiomyoma of the skin" EXACT [DOID:5132, NCIT:C4482] synonym: "leiomyoma of zone of skin" EXACT [MONDO:design_pattern] synonym: "skin leiomyoma" EXACT [NCIT:C4482] synonym: "zone of skin leiomyoma" EXACT [MONDO:patterns/location] xref: DOID:5132 {source="MONDO:equivalentTo"} xref: NCIT:C4482 {source="MONDO:equivalentTo", source="DOID:5132"} xref: SCTID:254767008 {source="MONDO:equivalentTo", source="DOID:5132"} xref: UMLS:C0346064 {source="NCIT:C4482", source="MONDO:equivalentTo", source="DOID:5132"} is_a: MONDO:0001572 {source="MONDO:Redundant", source="NCIT:C4482"} ! leiomyoma is_a: MONDO:0002300 {source="DOID:5132", source="NCIT:C4482/inferred"} ! dermis tumor is_a: MONDO:0021440 {source="MONDO:Redundant", source="NCIT:C4482/inferred"} ! benign neoplasm of skin property_value: exactMatch DOID:5132 property_value: exactMatch http://identifiers.org/snomedct/254767008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346064 property_value: exactMatch NCIT:C4482 [Term] id: MONDO:0003295 name: leiomyomatosis def: "A condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body." [NCIT:C3748] synonym: "leiomyomatosis" EXACT [NCIT:C3748] synonym: "leiomyomatosis, no ICD-O subtype" EXACT [DOID:5138] synonym: "leiomyomatosis, no ICD-O subtype (morphologic abnormality)" EXACT [DOID:5138] xref: DOID:5138 {source="MONDO:equivalentTo"} xref: ICDO:8890/1 {source="NCIT:C3748"} xref: MESH:D018231 {source="DOID:5138", source="MONDO:equivalentTo"} xref: NCIT:C3748 {source="DOID:5138", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C0206654 {source="NCIT:C3748", source="DOID:5138", source="MONDO:equivalentTo"} is_a: MONDO:0001572 {source="DOID:5138", source="MESH:D018231", source="NCIT:C3748"} ! leiomyoma property_value: exactMatch DOID:5138 property_value: exactMatch http://identifiers.org/mesh/D018231 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206654 property_value: exactMatch NCIT:C3748 [Term] id: MONDO:0003321 name: hereditary Wilms tumor def: "Familial embryonal neoplasm derived from nephrogenic blastemal cells. Several lines of differentiation, including blastemal, stromal and epithelial, are usually expressed. Comprises approximately 1% of Wilms tumors. (AFIP fascicle version 2.0)" [NCIT:P378] synonym: "familial Wilms tumor" EXACT [NCIT:C8496] synonym: "familial Wilms tumour" EXACT OMO:0003005 [] synonym: "familial Wilms' tumor" EXACT [NCIT:C8496] synonym: "familial Wilms' tumour" EXACT OMO:0003005 [] synonym: "hereditary kidney adenosarcoma" EXACT [NCIT:C8496] synonym: "hereditary nephroblastoma" EXACT [NCIT:C8496] synonym: "hereditary renal adenosarcoma" EXACT [NCIT:C8496] synonym: "hereditary Wilms tumor" EXACT [DOID:5183, MONDO:patterns/hereditary, NCIT:C8496] synonym: "hereditary Wilms' tumor" EXACT [DOID:5183, NCIT:C8496] synonym: "hereditary Wilms' tumour" EXACT OMO:0003005 [] synonym: "WT1" NARROW ABBREVIATION [DOID:5183] xref: DOID:5183 {source="MONDO:equivalentTo"} xref: NCIT:C8496 {source="MONDO:equivalentTo", source="DOID:5183"} xref: OMIMPS:194070 {source="MONDO:equivalentTo"} xref: UMLS:C0677779 {source="NCIT:C8496", source="MONDO:equivalentTo", source="DOID:5183"} is_a: MONDO:0019004 {source="DOID:5183", source="MONDO:Redundant", source="NCIT:C8496"} ! kidney Wilms tumor is_a: MONDO:0100191 ! inherited kidney disorder intersection_of: MONDO:0006058 ! Wilms tumor intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch DOID:5183 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0677779 property_value: exactMatch https://omim.org/phenotypicSeries/PS194070 property_value: exactMatch NCIT:C8496 [Term] id: MONDO:0003331 name: ovarian monodermal teratoma def: "A teratoma that arises from the ovary and is characterized by the presence of tissues derived exclusively from one embryonic germ cell layer." [NCIT:C7286] synonym: "monodermal teratoma" EXACT [NCIT:C7286] synonym: "monodermal teratoma (morphologic abnormality)" EXACT [DOID:5207] synonym: "ovarian monodermal teratoma" EXACT [DOID:5207, NCIT:C7286] xref: DOID:5207 {source="MONDO:equivalentTo"} xref: NCIT:C7286 {source="DOID:5207", source="MONDO:equivalentTo"} xref: UMLS:C1302569 {source="NCIT:C7286", source="DOID:5207", source="MONDO:equivalentTo"} is_a: EFO:0006463 {source="DOID:5207", source="NCIT:C7286"} ! ovarian teratoma property_value: exactMatch DOID:5207 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1302569 property_value: exactMatch NCIT:C7286 [Term] id: MONDO:0003334 name: demyelinating polyneuropathy def: "Polyneuropathy that is characterized by demyelination of axons." [NCIT:P378] synonym: "peripheral demyelinating neuropathy" EXACT [DOID:5214] xref: DOID:5214 {source="MONDO:equivalentTo"} xref: ICD9:356.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C27062 {source="DOID:5214", source="MONDO:equivalentTo"} xref: SCTID:23414001 {source="DOID:5214", source="MONDO:equivalentTo"} xref: UMLS:C0270922 {source="DOID:5214", source="MONDO:equivalentTo", source="NCIT:C27062"} is_a: EFO:0009562 {source="DOID:5214", source="NCIT:C27062"} ! polyneuropathy is_a: MONDO:0002562 {source="NCIT:C27062"} ! demyelinating disease property_value: exactMatch DOID:5214 property_value: exactMatch http://identifiers.org/snomedct/23414001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270922 property_value: exactMatch NCIT:C27062 [Term] id: MONDO:0003335 name: chronic polyneuropathy def: "Polyneuropathy that is persistent or long-standing in nature." [NCIT:P378] synonym: "polyneuropathy, chronic" EXACT [MONDO:patterns/chronic] xref: DOID:5221 {source="MONDO:equivalentTo"} xref: NCIT:C36071 {source="MONDO:equivalentTo", source="DOID:5221"} xref: UMLS:C1167650 {source="MONDO:equivalentTo", source="NCIT:C36071", source="DOID:5221"} is_a: EFO:0009562 {source="DOID:5221", source="MONDO:Redundant", source="NCIT:C36071"} ! polyneuropathy property_value: exactMatch DOID:5221 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1167650 property_value: exactMatch NCIT:C36071 [Term] id: MONDO:0003337 name: acute hemorrhagic encephalitis def: "Acute encephalitis that is characterized by bleeding." [NCIT:C35796] synonym: "acute hemorrhagic encephalitis" EXACT [NCIT:C35796] xref: DOID:5224 {source="MONDO:equivalentTo"} xref: NCIT:C35796 {source="DOID:5224", source="MONDO:equivalentTo"} xref: UMLS:C1332149 {source="DOID:5224", source="MONDO:equivalentTo"} is_a: EFO:0007538 {source="NCIT:C35796"} ! viral encephalitis property_value: exactMatch DOID:5224 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332149 property_value: exactMatch NCIT:C35796 [Term] id: MONDO:0003342 name: benign perivascular tumor def: "A benign mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels." [NCIT:P378] synonym: "benign Pericytic neoplasm" EXACT [NCIT:C6529] synonym: "benign pericytic neoplasm" EXACT [] synonym: "benign Pericytic tumor" EXACT [NCIT:C6529] synonym: "benign Pericytic tumour" EXACT OMO:0003005 [] synonym: "benign perivascular neoplasm" EXACT [NCIT:C6529] synonym: "benign perivascular tumor" EXACT [NCIT:C6529] synonym: "pericytic neoplasm, benign" EXACT [MONDO:patterns/benign] xref: DOID:5238 {source="MONDO:equivalentTo"} xref: NCIT:C6529 {source="DOID:5238", source="MONDO:equivalentTo"} xref: UMLS:C1332532 {source="DOID:5238", source="MONDO:equivalentTo", source="NCIT:C6529"} is_a: EFO:0002422 ! benign neoplasm is_a: MONDO:0002604 {source="MONDO:Redundant", source="NCIT:C6529"} ! pericytic neoplasm property_value: exactMatch DOID:5238 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332532 property_value: exactMatch NCIT:C6529 property_value: excluded_subClassOf MONDO:0000629 {source="DOID:5238"} [Term] id: MONDO:0003346 name: central nervous system vasculitis def: "Vasculitis affecting the blood vessels of the brain and/or spinal cord." [NCIT:P378] synonym: "central nervous system vasculitis" EXACT [MONDO:patterns/location] synonym: "vasculitis of central nervous system" EXACT [MONDO:design_pattern] xref: DOID:525 {source="MONDO:equivalentTo"} xref: MESH:D020293 {source="DOID:525", source="MONDO:equivalentTo"} xref: NCIT:C84622 {source="DOID:525", source="MONDO:equivalentTo"} xref: UMLS:C0751878 {source="NCIT:C84622", source="DOID:525", source="MONDO:equivalentTo"} is_a: EFO:0006803 {source="DOID:525", source="MESH:D020293", source="MONDO:Redundant", source="NCIT:C84622"} ! vasculitis is_a: EFO:0009386 {source="DOID:525", source="MESH:D020293/inferred", source="MONDO:Entailed", source="MONDO:Redundant"} ! central nervous system disease is_a: MONDO:0043218 ! neurovascular disorder property_value: exactMatch DOID:525 property_value: exactMatch http://identifiers.org/mesh/D020293 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751878 property_value: exactMatch NCIT:C84622 [Term] id: MONDO:0003349 name: central nervous system leiomyosarcoma def: "An aggressive malignant smooth muscle neoplasm, arising from the central nervous system. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C6999] synonym: "central nervous system leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C6999] synonym: "CNS leiomyosarcoma" EXACT [NCIT:C6999] synonym: "leiomyosarcoma of central nervous system" EXACT [NCIT:C6999] synonym: "leiomyosarcoma of CNS" EXACT [NCIT:C6999] synonym: "leiomyosarcoma of the central nervous system" EXACT [NCIT:C6999] synonym: "leiomyosarcoma of the CNS" EXACT [DOID:5254, NCIT:C6999] xref: DOID:5254 {source="MONDO:equivalentTo"} xref: NCIT:C6999 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5254"} xref: UMLS:C1334385 {source="MONDO:equivalentTo", source="NCIT:C6999", source="DOID:5254"} is_a: EFO:0000564 {source="DOID:5254", source="MONDO:Redundant", source="NCIT:C6999/inferred"} ! leiomyosarcoma is_a: MONDO:0002217 {source="MONDO:Redundant", source="NCIT:C6999"} ! central nervous system sarcoma is_a: MONDO:0037740 ! malignant central nervous system mesenchymal, non-meningothelial neoplasm property_value: exactMatch DOID:5254 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334385 property_value: exactMatch NCIT:C6999 [Term] id: MONDO:0003350 name: granular cell leiomyosarcoma def: "An aggressive malignant smooth muscle neoplasm. It is characterized by the presence of malignant smooth muscle cells with granular cytoplasmic changes." [NCIT:C27494] synonym: "granular cell leiomyosarcoma" EXACT [NCIT:C27494] xref: DOID:5258 {source="MONDO:equivalentTo"} xref: NCIT:C27494 {source="NCIT:C27494", source="DOID:5258", source="MONDO:equivalentTo"} xref: UMLS:C1333871 {source="NCIT:C27494", source="DOID:5258", source="MONDO:equivalentTo"} is_a: MONDO:0003252 ! granular cell cancer is_a: MONDO:0003349 ! central nervous system leiomyosarcoma intersection_of: EFO:0000564 ! leiomyosarcoma intersection_of: EFO:1000284 ! Granular Cell Tumor property_value: exactMatch DOID:5258 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333871 property_value: exactMatch NCIT:C27494 [Term] id: MONDO:0003353 name: heart leiomyosarcoma def: "An aggressive malignant smooth muscle neoplasm, arising from the heart. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:P378] synonym: "Cardiac leiomyosarcoma" EXACT [NCIT:C5364] synonym: "heart leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C5364] synonym: "leiomyosarcoma of heart" EXACT [DOID:5261, NCIT:C5364] synonym: "leiomyosarcoma of the heart" EXACT [NCIT:C5364] xref: DOID:5261 {source="MONDO:equivalentTo"} xref: NCIT:C5364 {source="MONDO:equivalentTo", source="DOID:5261"} xref: UMLS:C1332848 {source="NCIT:C5364", source="MONDO:equivalentTo", source="DOID:5261"} is_a: EFO:0000564 {source="DOID:5261", source="MONDO:Redundant", source="NCIT:C5364/inferred"} ! leiomyosarcoma is_a: MONDO:0003354 {source="DOID:5261", source="MONDO:Redundant", source="NCIT:C5364"} ! heart sarcoma property_value: exactMatch DOID:5261 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332848 property_value: exactMatch NCIT:C5364 [Term] id: MONDO:0003354 name: heart sarcoma def: "A malignant soft tissue neoplasm that arises from the heart. The majority of cases are angiosarcomas." [NCIT:P378] synonym: "Cardiac sarcoma" EXACT [NCIT:C7723] synonym: "cardiac sarcoma" EXACT [DOID:5262, NCIT:C7723] synonym: "heart sarcoma" EXACT [MONDO:patterns/location, NCIT:C7723] synonym: "sarcoma of heart" EXACT [DOID:5262, MONDO:patterns/sarcoma, NCIT:C7723] synonym: "sarcoma of the heart" EXACT [NCIT:C7723] xref: DOID:5262 {source="MONDO:equivalentTo"} xref: NCIT:C7723 {source="MONDO:equivalentTo", source="DOID:5262"} xref: UMLS:C0238152 {source="MONDO:equivalentTo", source="NCIT:C7723", source="DOID:5262"} is_a: EFO:1001968 {source="NCIT:C7723"} ! soft tissue sarcoma is_a: MONDO:0001340 {source="DOID:5262", source="MONDO:Redundant", source="NCIT:C7723"} ! heart cancer property_value: exactMatch DOID:5262 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238152 property_value: exactMatch NCIT:C7723 [Term] id: MONDO:0003363 name: malignant dermis tumor def: "A malignant neoplasm involving the dermis." [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of dermis" EXACT [MONDO:patterns/cancer] synonym: "dermis cancer" EXACT [MONDO:patterns/location] synonym: "malignant dermal neoplasm" EXACT [NCIT:C4574] synonym: "malignant dermis neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4574] synonym: "malignant dermis tumor" EXACT [NCIT:C4574] synonym: "malignant neoplasm of dermis" EXACT [DOID:5274, MONDO:patterns/cancer, NCIT:C4574] synonym: "malignant neoplasm of the dermis" EXACT [NCIT:C4574] synonym: "malignant tumor of dermis" EXACT [NCIT:C4574] synonym: "malignant tumor of the dermis" EXACT [NCIT:C4574] synonym: "malignant tumour of dermis" EXACT OMO:0003005 [] synonym: "malignant tumour of the dermis" EXACT OMO:0003005 [] xref: DOID:5274 {source="MONDO:equivalentTo"} xref: NCIT:C4574 {source="MONDO:equivalentTo", source="DOID:5274"} xref: SCTID:255096006 {source="MONDO:equivalentTo", source="DOID:5274"} xref: UMLS:C0346811 {source="MONDO:equivalentTo", source="NCIT:C4574", source="DOID:5274"} is_a: MONDO:0002300 {source="MONDO:Redundant", source="NCIT:C4574"} ! dermis tumor is_a: MONDO:0002898 {source="DOID:5274", source="MONDO:Redundant", source="NCIT:C4574"} ! skin cancer property_value: exactMatch DOID:5274 property_value: exactMatch http://identifiers.org/snomedct/255096006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346811 property_value: exactMatch NCIT:C4574 [Term] id: MONDO:0003366 name: hydrarthrosis def: "Accumulation of watery fluid in the cavity of a joint. (Dorland, 27th ed)" [MESH:D006833] xref: DOID:528 {source="MONDO:equivalentTo"} xref: ICD9:719.00 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:719.08 {source="MONDO:relatedTo", source="DOID:528", source="MONDO:i2s"} xref: MESH:D006833 {source="MONDO:equivalentTo"} xref: SCTID:387637008 {source="MONDO:equivalentTo"} is_a: EFO:1000999 {source="DOID:528", source="MESH:D006833"} ! joint disease property_value: exactMatch DOID:528 property_value: exactMatch http://identifiers.org/mesh/D006833 property_value: exactMatch http://identifiers.org/snomedct/387637008 [Term] id: MONDO:0003376 name: mediastinum leiomyosarcoma def: "An aggressive malignant smooth muscle neoplasm, arising from the mediastinum. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:P378] synonym: "leiomyosarcoma of mediastinum" EXACT [DOID:5292, NCIT:C6619] synonym: "leiomyosarcoma of the mediastinum" EXACT [NCIT:C6619] synonym: "mediastinal leiomyosarcoma" EXACT [NCIT:C6619] synonym: "mediastinum leiomyosarcoma" EXACT [MONDO:patterns/location] xref: DOID:5292 {source="MONDO:equivalentTo"} xref: NCIT:C6619 {source="MONDO:equivalentTo", source="DOID:5292"} xref: UMLS:C1334660 {source="NCIT:C6619", source="MONDO:equivalentTo", source="DOID:5292"} is_a: EFO:0000564 {source="DOID:5292", source="MONDO:Redundant", source="NCIT:C6619/inferred"} ! leiomyosarcoma is_a: MONDO:0002852 {source="DOID:5292", source="MONDO:Redundant", source="NCIT:C6619"} ! mediastinum sarcoma property_value: exactMatch DOID:5292 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334660 property_value: exactMatch NCIT:C6619 [Term] id: MONDO:0003393 name: thymus gland disorder def: "A non-neoplastic or neoplastic disorder that affects the thymus. Representative examples include thymic hyperplasia, thymoma, and thymic carcinoma." [NCIT:C26962] synonym: "disease of thymus" EXACT [MONDO:patterns/location_top] synonym: "disease of thymus gland" EXACT [DOID:533] synonym: "disease or disorder of thymus" EXACT [] synonym: "disorder of thymus" EXACT [MONDO:patterns/location_top] synonym: "disorder of thymus gland" EXACT [] synonym: "thymus disease" EXACT [MONDO:patterns/location] synonym: "thymus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "Thymus disorder" EXACT [NCIT:C26962] synonym: "thymus disorder" RELATED [] xref: DOID:533 {source="MONDO:equivalentTo"} xref: ICD9:254 {source="DOID:533"} xref: ICD9:254.9 {source="DOID:533"} xref: NCIT:C26962 {source="DOID:533", source="MONDO:equivalentTo"} xref: SCTID:20673009 {source="DOID:533", source="MONDO:equivalentTo"} xref: UMLS:C0154199 {source="DOID:533", source="MONDO:equivalentTo", source="NCIT:C26962"} is_a: EFO:0000540 ! immune system disease is_a: EFO:0001379 ! endocrine system disease is_a: EFO:0005803 ! hematologic disease property_value: exactMatch DOID:533 property_value: exactMatch http://identifiers.org/snomedct/20673009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154199 property_value: exactMatch NCIT:C26962 property_value: excluded_subClassOf MONDO:0005833 {source="DOID:533"} [Term] id: MONDO:0003403 name: testicular non-seminomatous germ cell cancer def: "A classification of testicular cancers that arise in specialized sex cells called germ cells. Nonseminomas include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac tumor." [NCIT:C5027] comment: Editor note: TODO owldef synonym: "malignant non-seminomatous germ cell cancer of testis" EXACT [NCIT:C5027] synonym: "malignant non-seminomatous germ cell cancer of the testis" EXACT [NCIT:C5027] synonym: "malignant non-seminomatous germ cell neoplasm of testis" EXACT [NCIT:C5027] synonym: "malignant non-seminomatous germ cell neoplasm of the testis" EXACT [NCIT:C5027] synonym: "malignant non-seminomatous germ cell tumor of testis" EXACT [DOID:5345, NCIT:C5027] synonym: "malignant non-seminomatous germ cell tumor of the testis" EXACT [NCIT:C5027] synonym: "malignant non-seminomatous germ cell tumour of testis" EXACT OMO:0003005 [] synonym: "malignant non-seminomatous germ cell tumour of the testis" EXACT OMO:0003005 [] synonym: "malignant testicular non-seminomatous germ cell neoplasm" EXACT [NCIT:C5027] synonym: "malignant testicular non-seminomatous germ cell tumor" EXACT [NCIT:C5027] synonym: "malignant testicular non-seminomatous germ cell tumour" EXACT OMO:0003005 [] synonym: "testicular germ cell tumor non-seminomatous, malignant" EXACT [MONDO:patterns/malignant] synonym: "testicular germ cell tumour non-seminomatous, malignant" EXACT OMO:0003005 [] synonym: "testicular non-seminomatous germ cell cancer" EXACT [NCIT:C5027] synonym: "testicular non-seminomatous germ cell tumor, malignant" EXACT [MONDO:patterns/malignant] synonym: "testicular non-seminomatous malignant germ cell neoplasm" EXACT [NCIT:C5027] xref: DOID:5345 {source="MONDO:equivalentTo"} xref: NCIT:C5027 {source="DOID:5345", source="MONDO:equivalentTo"} xref: UMLS:C1334625 {source="DOID:5345", source="MONDO:equivalentTo", source="NCIT:C5027"} is_a: EFO:1000570 {source="MONDO:Redundant", source="NCIT:C5027"} ! Testicular Non-Seminomatous Germ Cell Tumor is_a: MONDO:0003510 {source="DOID:5345", source="MONDO:Redundant", source="NCIT:C5027"} ! malignant testicular germ cell tumor property_value: exactMatch DOID:5345 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334625 property_value: exactMatch NCIT:C5027 [Term] id: MONDO:0003406 name: sleep-wake disorder def: "Abnormal sleep-wake schedule or pattern associated with the circadian rhythm which affect the length, timing, and/or rigidity of the sleep-wake cycle relative to the day-night cycle." [MESH:D012893] synonym: "circadian dysregulation" RELATED [] synonym: "disorder of sleep-wake cycle" EXACT [] synonym: "disorder of sleep-wake schedule" RELATED [] synonym: "disorder, sleep" RELATED [MESH:D012893] synonym: "disorder, sleep wake" RELATED [MESH:D012893] synonym: "disorders of the sleep-wake schedule" RELATED [] synonym: "disorders, sleep" RELATED [MESH:D012893] synonym: "disorders, sleep wake" RELATED [MESH:D012893] synonym: "disturbed nyctohemeral rhythm" RELATED [] synonym: "long sleeper syndrome" RELATED [MESH:D012893] synonym: "long sleeper syndromes" RELATED [MESH:D012893] synonym: "neurogenic tachypnea, sleep-related" RELATED [MESH:D012893] synonym: "neurogenic Tachypneas, sleep-related" RELATED [MESH:D012893] synonym: "non-organic sleep disorder" RELATED [DOID:535] synonym: "phenotype, short sleep" RELATED [MESH:D012893] synonym: "phenotypes, short sleep" RELATED [MESH:D012893] synonym: "short sleep phenotype" RELATED [MESH:D012893] synonym: "short sleep phenotypes" RELATED [MESH:D012893] synonym: "short sleeper syndrome" RELATED [MESH:D012893] synonym: "short sleeper syndromes" RELATED [MESH:D012893] synonym: "sleep disorder" RELATED [MESH:D012893] synonym: "sleep disorders" RELATED [MESH:D012893] synonym: "sleep phenotypes, short" RELATED [MESH:D012893] synonym: "sleep related neurogenic tachypnea" RELATED [MESH:D012893] synonym: "sleep wake disorder" EXACT [MESH:D012893] synonym: "sleep-related neurogenic tachypnea" RELATED [MESH:D012893] synonym: "sleep-related neurogenic Tachypneas" RELATED [MESH:D012893] synonym: "sleeper syndrome, long" RELATED [MESH:D012893] synonym: "sleeper syndrome, short" RELATED [MESH:D012893] synonym: "sleeper syndromes, long" RELATED [MESH:D012893] synonym: "sleeper syndromes, short" RELATED [MESH:D012893] synonym: "Subwakefullness syndrome" RELATED [MESH:D012893] synonym: "Subwakefullness syndromes" RELATED [MESH:D012893] synonym: "syndrome, long sleeper" RELATED [MESH:D012893] synonym: "syndrome, short sleeper" RELATED [MESH:D012893] synonym: "syndrome, Subwakefullness" RELATED [MESH:D012893] synonym: "syndromes, long sleeper" RELATED [MESH:D012893] synonym: "syndromes, short sleeper" RELATED [MESH:D012893] synonym: "syndromes, Subwakefullness" RELATED [MESH:D012893] synonym: "tachypnea, sleep-related neurogenic" RELATED [MESH:D012893] synonym: "Tachypneas, sleep-related neurogenic" RELATED [MESH:D012893] synonym: "wake disorder, sleep" RELATED [MESH:D012893] synonym: "wake disorders, sleep" RELATED [MESH:D012893] xref: DOID:535 {source="MONDO:equivalentTo"} xref: EFO:0008568 {source="MONDO:equivalentTo"} xref: ICD10CM:G47 {source="MONDO:equivalentTo"} xref: ICD9:307.4 {source="DOID:535"} xref: ICD9:307.40 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:307.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D012893 {source="MONDO:equivalentTo"} xref: SCTID:39898005 {source="MONDO:equivalentTo"} is_a: EFO:0008568 {source="https://github.com/monarch-initiative/mondo/issues/531"} ! Sleep Disorder property_value: exactMatch DOID:535 property_value: exactMatch http://identifiers.org/mesh/D012893 property_value: exactMatch http://identifiers.org/snomedct/39898005 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G47 property_value: excluded_subClassOf MONDO:0002025 {source="MESH:D012893"} property_value: excluded_subClassOf MONDO:0005071 {source="EFO:0008568/inferred", source="ICD10CM:G47/inferred", source="MESH:D012893", source="MESH:D012893/inferred"} [Term] id: MONDO:0003408 name: ovarian primitive germ cell tumor def: "A malignant tumor that arises from the ovary and is characterized by the presence of malignant germ cell components but lacks a teratoma component." [NCIT:C39986] synonym: "ovarian primitive germ cell tumor" EXACT [NCIT:C39986] xref: DOID:5351 {source="MONDO:equivalentTo"} xref: NCIT:C39986 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5351"} xref: UMLS:C1518727 {source="MONDO:equivalentTo", source="NCIT:C39986", source="DOID:5351"} is_a: MONDO:0018171 {source="DOID:5351", source="NCIT:C39986"} ! malignant germ cell tumor of ovary property_value: exactMatch DOID:5351 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518727 property_value: exactMatch NCIT:C39986 [Term] id: MONDO:0003409 name: colonic disorder def: "Pathological processes in the colon region of the large intestine (intestine, large)." [MESH:D003108] synonym: "colon disease" EXACT [MONDO:patterns/location] synonym: "colon disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "colon disorder" EXACT [DOID:5353] synonym: "disease of colon" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of colon" EXACT [] synonym: "disorder of colon" EXACT [MONDO:patterns/location_top] xref: DOID:5353 {source="MONDO:equivalentTo"} xref: MESH:D003108 {source="MONDO:equivalentTo", source="DOID:5353"} xref: SCTID:128524007 {source="MONDO:equivalentTo", source="DOID:5353"} xref: UMLS:C0009373 {source="MONDO:equivalentTo", source="DOID:5353"} is_a: MONDO:0024634 ! large intestine disorder property_value: exactMatch DOID:5353 property_value: exactMatch http://identifiers.org/mesh/D003108 property_value: exactMatch http://identifiers.org/snomedct/128524007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009373 [Term] id: MONDO:0003413 name: hair follicle neoplasm def: "A benign or malignant neoplasm arising from the hair follicle." [NCIT:C7367] synonym: "hair follicle neoplasm" EXACT [NCIT:C7367] synonym: "hair follicle neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "hair follicle tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C7367] synonym: "hair follicle tumour" EXACT OMO:0003005 [] synonym: "hair matrix neoplasm" RELATED [DOID:5375, NCIT:C7367] synonym: "hair matrix tumor" RELATED [DOID:5375, NCIT:C7367] synonym: "hair matrix tumour" RELATED OMO:0003005 [] synonym: "neoplasm of hair follicle" EXACT [MONDO:patterns/neoplasm, NCIT:C7367] synonym: "neoplasm of the hair follicle" EXACT [NCIT:C7367] synonym: "tumor of hair follicle" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of hair follicle" EXACT OMO:0003005 [] xref: DOID:5375 {source="MONDO:equivalentTo"} xref: NCIT:C7367 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5375"} xref: UMLS:C0859920 {source="NCIT:C7367", source="MONDO:equivalentTo", source="DOID:5375"} is_a: MONDO:0002297 {source="NCIT:C7367"} ! epidermal appendage tumor is_a: MONDO:0002917 {source="MONDO:Redundant", source="NCIT:C7367"} ! disorder of pilosebaceous unit property_value: exactMatch DOID:5375 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0859920 property_value: exactMatch NCIT:C7367 [Term] id: MONDO:0003429 name: functioning pituitary gland adenoma def: "A hormone producing pituitary gland adenoma, associated with a hormonal syndrome." [NCIT:C8388] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:314753"} synonym: "endocrine active pituitary adenoma" EXACT [Orphanet:314753] synonym: "functioning adenoma of pituitary" EXACT [NCIT:C8388] synonym: "functioning adenoma of pituitary gland" EXACT [NCIT:C8388] synonym: "functioning adenoma of the pituitary" EXACT [NCIT:C8388] synonym: "functioning adenoma of the pituitary gland" EXACT [NCIT:C8388] synonym: "functioning pituitary adenoma" EXACT [MONDO:0017821, NCIT:C8388] synonym: "functioning pituitary gland adenoma" EXACT [NCIT:C8388] synonym: "functioning pituitary gland adenoma (benign)" EXACT [NCIT:C8388] synonym: "secreting pituitary adenoma" EXACT [Orphanet:314753] synonym: "secretory adenoma of pituitary" EXACT [NCIT:C8388] synonym: "secretory adenoma of pituitary gland" EXACT [NCIT:C8388] synonym: "secretory adenoma of the pituitary" EXACT [NCIT:C8388] synonym: "secretory adenoma of the pituitary gland" EXACT [DOID:5395, NCIT:C8388] synonym: "secretory pituitary adenoma" EXACT [NCIT:C8388] synonym: "secretory pituitary gland adenoma" EXACT [NCIT:C8388] xref: DOID:5395 {source="MONDO:equivalentTo"} xref: NCIT:C8388 {source="MONDO:equivalentTo", source="DOID:5395"} xref: Orphanet:314753 {source="MONDO:equivalentTo"} xref: UMLS:C0854486 {source="Orphanet:314753", source="NCIT:C8388", source="MONDO:equivalentTo", source="DOID:5395"} is_a: EFO:1000478 {source="DOID:5395", source="MONDO:Redundant", source="NCIT:C8388", source="Orphanet:314753"} ! Pituitary Gland Adenoma is_a: MONDO:0003604 {source="MONDO:Redundant", source="NCIT:C8388"} ! functioning pituitary gland neoplasm property_value: exactMatch DOID:5395 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0854486 property_value: exactMatch NCIT:C8388 property_value: exactMatch Orphanet:314753 [Term] id: MONDO:0003430 name: prolactin producing pituitary tumor def: "An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces prolactin." [NCIT:P378] synonym: "malignant prolactin producing neoplasm of pituitary gland" NARROW [DOID:5396] synonym: "malignant prolactinoma" NARROW [DOID:5396, NCIT:C5962] synonym: "PRL producing pituitary gland neoplasm" EXACT [NCIT:C7910] synonym: "prolactin producing neoplasm of pituitary" EXACT [NCIT:C7910] synonym: "prolactin producing neoplasm of pituitary gland" EXACT [NCIT:C7910] synonym: "prolactin producing neoplasm of the pituitary" EXACT [NCIT:C7910] synonym: "prolactin producing neoplasm of the pituitary gland" EXACT [NCIT:C7910] synonym: "prolactin producing pituitary gland neoplasm" EXACT [NCIT:C7910] synonym: "prolactin producing pituitary gland tumor" EXACT [NCIT:C7910] synonym: "prolactin producing pituitary gland tumour" EXACT OMO:0003005 [] synonym: "prolactin producing pituitary neoplasm" EXACT [NCIT:C7910] synonym: "prolactin producing pituitary tumor" EXACT [NCIT:C7910] synonym: "prolactin producing tumor of pituitary" EXACT [NCIT:C7910] synonym: "prolactin producing tumor of pituitary gland" EXACT [NCIT:C7910] synonym: "prolactin producing tumor of the pituitary" EXACT [NCIT:C7910] synonym: "prolactin producing tumor of the pituitary gland" EXACT [NCIT:C7910] synonym: "prolactin producing tumour of pituitary" EXACT OMO:0003005 [] synonym: "prolactin producing tumour of pituitary gland" EXACT OMO:0003005 [] synonym: "prolactin producing tumour of the pituitary" EXACT OMO:0003005 [] synonym: "prolactin producing tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "prolactin secreting neoplasm of pituitary" EXACT [NCIT:C7910] synonym: "prolactin secreting neoplasm of pituitary gland" EXACT [NCIT:C7910] synonym: "prolactin secreting neoplasm of the pituitary" EXACT [NCIT:C7910] synonym: "prolactin secreting neoplasm of the pituitary gland" EXACT [NCIT:C7910] synonym: "prolactin secreting pituitary gland neoplasm" EXACT [NCIT:C7910] synonym: "prolactin secreting pituitary gland tumor" EXACT [NCIT:C7910] synonym: "prolactin secreting pituitary gland tumour" EXACT OMO:0003005 [] synonym: "prolactin secreting pituitary neoplasm" EXACT [NCIT:C7910] synonym: "prolactin secreting pituitary tumor" EXACT [NCIT:C7910] synonym: "prolactin secreting pituitary tumour" EXACT OMO:0003005 [] synonym: "prolactin secreting tumor of pituitary" EXACT [DOID:5396, NCIT:C7910] synonym: "prolactin secreting tumor of pituitary gland" EXACT [NCIT:C7910] synonym: "prolactin secreting tumor of the pituitary" EXACT [NCIT:C7910] synonym: "prolactin secreting tumor of the pituitary gland" EXACT [NCIT:C7910] synonym: "prolactin secreting tumour of pituitary" EXACT OMO:0003005 [] synonym: "prolactin secreting tumour of pituitary gland" EXACT OMO:0003005 [] synonym: "prolactin secreting tumour of the pituitary" EXACT OMO:0003005 [] synonym: "prolactin secreting tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "prolactin-producing pituitary gland neoplasm" EXACT [NCIT:C7910] synonym: "prolactin-producing pituitary gland tumor" EXACT [NCIT:C7910] synonym: "prolactin-producing pituitary gland tumour" EXACT OMO:0003005 [] xref: DOID:5396 {source="MONDO:equivalentTo"} xref: NCIT:C7910 {source="MONDO:equivalentObsolete", source="DOID:5396"} xref: UMLS:C0278863 {source="MONDO:equivalentTo", source="NCIT:C7910", source="DOID:5396"} is_a: MONDO:0017611 ! pituitary tumor property_value: exactMatch DOID:5396 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278863 [Term] id: MONDO:0003438 name: combined small cell lung carcinoma def: "A morphologic variant of small cell lung carcinoma in combination with a non-small cell carcinoma." [NCIT:C9137] synonym: "combined small and large cell lung cancer" EXACT [NCIT:C9137] synonym: "combined small and large cell lung carcinoma" EXACT [NCIT:C9137] synonym: "combined small cell and large cell lung carcinoma" EXACT [NCIT:C9137] synonym: "combined small cell carcinoma of lung" EXACT [NCIT:C9137] synonym: "combined small cell carcinoma of the lung" EXACT [DOID:5421, NCIT:C9137] synonym: "combined small cell lung cancer" EXACT [NCIT:C9137] synonym: "combined small cell lung carcinoma" EXACT [NCIT:C9137] synonym: "combined type small cell carcinoma of lung" EXACT [DOID:5421, NCIT:C9137] synonym: "combined type small cell carcinoma of the lung" EXACT [NCIT:C9137] synonym: "combined type small cell lung carcinoma" EXACT [NCIT:C9137] synonym: "CSCLC" RELATED ABBREVIATION [ONCOTREE:CSCLC] synonym: "lung combined type small cell carcinoma" RELATED [DOID:5421] synonym: "mixed small cell and large cell carcinoma of lung" EXACT [NCIT:C9137] synonym: "mixed small cell and large cell carcinoma of the lung" EXACT [NCIT:C9137] synonym: "mixed small cell and large cell lung carcinoma" EXACT [NCIT:C9137] synonym: "small cell and large cell carcinoma of lung" EXACT [NCIT:C9137] synonym: "small cell and large cell carcinoma of the lung" EXACT [NCIT:C9137] synonym: "small cell and large cell lung carcinoma" EXACT [NCIT:C9137] xref: DOID:5421 {source="MONDO:equivalentTo"} xref: ICDO:8045/3 {source="NCIT:C9137"} xref: NCIT:C9137 {source="DOID:5421", source="MONDO:equivalentTo"} xref: ONCOTREE:CSCLC {source="MONDO:equivalentTo"} xref: UMLS:C1333125 {source="DOID:5421", source="MONDO:equivalentTo"} is_a: EFO:0000702 {source="DOID:5421", source="MONDO:Redundant", source="NCIT:C9137"} ! small cell lung carcinoma is_a: EFO:1000200 {source="MONDO:Redundant", source="NCIT:C9137"} ! Combined Lung Carcinoma intersection_of: EFO:0000702 {source="NCIT:C9137"} ! small cell lung carcinoma intersection_of: EFO:1000200 {source="NCIT:C9137"} ! Combined Lung Carcinoma property_value: exactMatch DOID:5421 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333125 property_value: exactMatch NCIT:C9137 [Term] id: MONDO:0003441 name: dystonic disorder def: "A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures." [NCIT:C34563] synonym: "dystonia" EXACT [MONDO:ambiguous] synonym: "dystonia disorder" RELATED [MESH:D020821] synonym: "dystonia disorders" RELATED [MESH:D020821] synonym: "dystonic disease" EXACT [DOID:543] synonym: "dystonic disorder" EXACT [MESH:D020821] xref: DOID:543 {source="MONDO:equivalentTo"} xref: HP:0001332 {source="MONDO:otherHierarchy"} xref: ICD10CM:G24 {source="MONDO:equivalentTo", source="DOID:543"} xref: ICD9:333.90 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D020821 {source="MONDO:equivalentTo", source="DOID:543"} xref: NCIT:C34563 {source="MONDO:equivalentTo", source="DOID:543"} xref: SCTID:15802004 {source="MONDO:equivalentTo", source="DOID:543"} is_a: EFO:0004280 {source="DOID:543", source="MESH:D020821", source="NCIT:C34563"} ! movement disorder property_value: exactMatch DOID:543 property_value: exactMatch http://identifiers.org/mesh/D020821 property_value: exactMatch http://identifiers.org/snomedct/15802004 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G24 property_value: exactMatch NCIT:C34563 [Term] id: MONDO:0003443 name: papillary urothelial neoplasm def: "A neoplastic lesion of the urinary tract transitional cell epithelium characterized by papillary formations. -- 2003" [NCIT:C27883] synonym: "inverted papilloma of urinary tract" RELATED [DOID:5433, NCIT:C6192] synonym: "papillary transitional cell neoplasm of the urinary tract" EXACT [DOID:5433, NCIT:C27883] synonym: "papillary urothelial neoplasm" EXACT [NCIT:C27883] synonym: "urinary tract papillary transitional cell benign neoplasm" RELATED [DOID:5433] synonym: "urinary tract papillary transitional cell neoplasm" EXACT [NCIT:C27883] synonym: "urothelium papillary epithelial neoplasm" EXACT [MONDO:patterns/location] xref: DOID:5433 {source="MONDO:equivalentTo"} xref: NCIT:C27883 {source="DOID:5433", source="MONDO:equivalentTo"} xref: UMLS:C1335329 {source="DOID:5433", source="NCIT:C27883", source="MONDO:equivalentTo"} is_a: MONDO:0021096 {source="MONDO:Redundant", source="NCIT:C27883"} ! papillary epithelial neoplasm is_a: MONDO:0024337 ! urothelial neoplasm property_value: exactMatch DOID:5433 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335329 property_value: exactMatch NCIT:C27883 [Term] id: MONDO:0003446 name: papillary hidradenoma def: "A benign neoplasm arising from the sweat glands. It presents as a slow growing cystic nodular lesion most often in the skin of the vulva and the perianal region. It is characterized by the presence of cystic and large papillary structures. The papillary structures contain connective tissue and are covered by two layers of epithelium. Complete excision is curative." [NCIT:C4171] synonym: "hidradenoma papilliferum" EXACT [NCIT:C4171] xref: DOID:5439 {source="MONDO:equivalentTo"} xref: ICDO:8405/0 {source="NCIT:C4171"} xref: NCIT:C4171 {source="MONDO:equivalentTo", source="DOID:5439", source="MONDO:exact-label-match"} xref: SCTID:307597000 {source="MONDO:equivalentTo", source="DOID:5439"} xref: UMLS:C0334348 {source="MONDO:equivalentTo", source="DOID:5439", source="NCIT:C4171"} is_a: MONDO:0002805 {source="DOID:5439"} ! hidradenoma property_value: exactMatch DOID:5439 property_value: exactMatch http://identifiers.org/snomedct/307597000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334348 property_value: exactMatch NCIT:C4171 [Term] id: MONDO:0003448 name: benign spiradenoma def: "A benign epithelial neoplasm with eccrine or apocrine differentiation, arising from the sweat glands. It usually presents as a solitary, well circumscribed, firm nodule in the face and upper trunk. It is characterized by the presence of basaloid cells forming nodules in the dermis. Cases of carcinoma arising from long standing spiradenomas have been reported." [NCIT:C4170] comment: Spiradenomas are usually benign. Malignant forms are rare. synonym: "benign eccrine spiradenoma" NARROW [DOID:5444, NCIT:C4170] synonym: "eccrine spiradenoma" NARROW [NCIT:C4170] synonym: "eccrine spiradenoma (morphologic abnormality)" NARROW [DOID:5444] synonym: "eccrine spiradenoma of skin" NARROW [DOID:5444] synonym: "spiradenoma" EXACT [NCIT:C4170] synonym: "spiroma/spiradenoma" RELATED [ONCOTREE:SPIR] xref: DOID:5444 {source="MONDO:equivalentTo"} xref: ICDO:8403/0 {source="NCIT:C4170"} xref: NCIT:C4170 {source="DOID:5444", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:SPIR {source="MONDO:equivalentTo"} xref: SCTID:403938001 {source="DOID:5444", source="MONDO:equivalentTo"} xref: UMLS:C0334347 {source="DOID:5444", source="MONDO:equivalentTo", source="NCIT:C4170"} is_a: MONDO:0021489 {source="NCIT:C4170"} ! benign neoplasm of sweat gland property_value: exactMatch DOID:5444 property_value: exactMatch http://identifiers.org/snomedct/403938001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334347 property_value: exactMatch NCIT:C4170 property_value: excluded_subClassOf MONDO:0003686 {source="DOID:5444"} [Term] id: MONDO:0003453 name: conjunctival intraepithelial neoplasm synonym: "conjunctiva intraepithelial neoplasia" EXACT [NCIT:C6120] synonym: "conjunctival intraepithelial neoplasia" EXACT [NCIT:C6120] synonym: "intraepithelial neoplasia of conjunctiva" EXACT [DOID:5465, NCIT:C6120] synonym: "intraepithelial neoplasia of the conjunctiva" EXACT [NCIT:C6120] xref: DOID:5465 {source="MONDO:equivalentTo"} xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C6120 {source="DOID:5465", source="MONDO:equivalentTo"} xref: SCTID:418134006 {source="DOID:5465", source="MONDO:equivalentTo"} xref: UMLS:C1333148 {source="DOID:5465", source="NCIT:C6120", source="MONDO:equivalentTo"} is_a: MONDO:0020204 {source="NCIT:C6120"} ! conjunctival tumor is_a: MONDO:0024475 {source="MONDO:Redundant", source="NCIT:C6120"} ! squamous cell intraepithelial neoplasia property_value: exactMatch DOID:5465 property_value: exactMatch http://identifiers.org/snomedct/418134006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333148 property_value: exactMatch NCIT:C6120 property_value: excluded_subClassOf MONDO:0000611 {source="DOID:5465"} [Term] id: MONDO:0003454 name: conjunctival cancer def: "A malignant neoplasm involving the conjunctiva." [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of conjunctiva" BROAD [MONDO:patterns/cancer] synonym: "conjunctiva cancer" EXACT [MONDO:patterns/location] synonym: "conjunctival tumor" BROAD [DOID:5467, NCIT:C2961] synonym: "conjunctival tumour" BROAD OMO:0003005 [] synonym: "malignant conjunctiva neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3564] synonym: "malignant conjunctiva tumor" EXACT [NCIT:C3564] synonym: "malignant conjunctiva tumour" EXACT OMO:0003005 [] synonym: "malignant conjunctival neoplasm" EXACT [NCIT:C3564] synonym: "malignant conjunctival tumor" EXACT [DOID:5467, NCIT:C3564] synonym: "malignant conjunctival tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of conjunctiva" EXACT [DOID:5467, MONDO:patterns/cancer, NCIT:C3564] synonym: "malignant neoplasm of conjunctiva (primary)" EXACT [DOID:5467] synonym: "malignant neoplasm of the conjunctiva" EXACT [NCIT:C3564] synonym: "malignant tumor of conjunctiva" EXACT [NCIT:C3564] synonym: "malignant tumor of the conjunctiva" EXACT [NCIT:C3564] synonym: "malignant tumour of conjunctiva" EXACT OMO:0003005 [] synonym: "malignant tumour of the conjunctiva" EXACT OMO:0003005 [] xref: DOID:5467 {source="MONDO:equivalentTo"} xref: ICD9:190.3 {source="DOID:5467", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3564 {source="DOID:5467", source="MONDO:equivalentTo"} xref: SCTID:363463000 {source="DOID:5467", source="MONDO:equivalentTo"} is_a: MONDO:0002236 {source="DOID:5467", source="MONDO:Redundant", source="NCIT:C3564"} ! ocular cancer is_a: MONDO:0020204 {source="MONDO:Redundant", source="NCIT:C3564"} ! conjunctival tumor property_value: exactMatch DOID:5467 property_value: exactMatch http://identifiers.org/snomedct/363463000 property_value: exactMatch NCIT:C3564 [Term] id: MONDO:0003455 name: bile duct papillary neoplasm def: "A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the intrahepatic or extrahepatic bile ducts." [NCIT:P378] synonym: "bile duct papillary epithelial neoplasm" EXACT [MONDO:patterns/location] synonym: "bile duct papillary neoplasm" EXACT [NCIT:C6881] synonym: "bile duct papillomatosis" EXACT [NCIT:C6881] synonym: "biliary papillomatosis" EXACT [DOID:5468, NCIT:C6881] synonym: "intraductal papillary neoplasm" EXACT [NCIT:C6881] synonym: "IPN" EXACT ABBREVIATION [NCIT:C6881] xref: DOID:5468 {source="MONDO:equivalentTo"} xref: ICDO:8503/0 {source="NCIT:C6881"} xref: NCIT:C6881 {source="MONDO:equivalentTo"} xref: UMLS:C1879344 {source="NCIT:C6881", source="MONDO:equivalentTo"} is_a: MONDO:0000385 ! benign digestive system neoplasm is_a: MONDO:0000627 ! benign endocrine neoplasm is_a: MONDO:0002060 ! intraductal papilloma is_a: MONDO:0021662 {source="MONDO:Redundant", source="NCIT:C6881"} ! bile duct neoplasm property_value: exactMatch DOID:5468 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1879344 property_value: exactMatch NCIT:C6881 [Term] id: MONDO:0003468 name: biphasic synovial sarcoma def: "A synovial sarcoma characterized by the presence of both an epithelial and a spindle cell component." [NCIT:P378] synonym: "biphasic sarcoma of synovium" EXACT [DOID:5492, NCIT:C4279] synonym: "biphasic sarcoma of the synovium" EXACT [NCIT:C4279] synonym: "synovial sarcoma, biphasic" EXACT [DOID:5492] synonym: "synovial sarcoma, biphasic (morphologic abnormality)" EXACT [DOID:5492] xref: DOID:5492 {source="MONDO:equivalentTo"} xref: ICDO:9043/3 {source="NCIT:C4279"} xref: NCIT:C4279 {source="MONDO:equivalentTo", source="DOID:5492"} xref: UMLS:C0334507 {source="MONDO:equivalentTo", source="NCIT:C4279", source="DOID:5492"} is_a: EFO:0001376 {source="DOID:5492", source="NCIT:C4279"} ! synovial sarcoma property_value: exactMatch DOID:5492 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334507 property_value: exactMatch NCIT:C4279 [Term] id: MONDO:0003472 name: lice infestation def: "A contagious infestation of parasitic insects found on the head (Pediculus humanus capitis), body (Pediculus humanus corporis), or pubic area (Pthirus pubis) that typically cause itching and rash." [NCIT:C128401] synonym: "infections, Pediculus humanus" RELATED [MONDO:patterns/infectious_disease_by_agent] synonym: "infestation by Pediculus" EXACT [DOID:5502] synonym: "louse infestation" EXACT [DOID:5502] synonym: "louse infestation (& [pediculosis and Phthirus] or [lice])" EXACT [DOID:5502] synonym: "mixed pediculosis" EXACT [DOID:5502] synonym: "mixed pediculosis infestation" EXACT [DOID:5502, ICD9CM:132.3] synonym: "pediculosis" EXACT [DOID:5502] synonym: "pediculosis + lice" EXACT [DOID:5502] synonym: "pediculosis and Phthirus infection" EXACT [DOID:5502] synonym: "pediculosis and Phthirus infections" EXACT [DOID:5502] synonym: "pediculosis and Phthirus infestation" EXACT [DOID:5502, ICD9CM:132] synonym: "pediculosis, unspecified" EXACT [DOID:5502, ICD9CM:132.9] synonym: "Pediculus humanus infection" EXACT [MONDO:patterns/infectious_disease_by_agent] xref: DOID:5502 {source="MONDO:equivalentTo"} xref: ICD10CM:B85.2 {source="DOID:5502", source="MONDO:equivalentTo"} xref: ICD9:132.9 {source="DOID:5502"} xref: MESH:D010373 {source="DOID:5502", source="MONDO:equivalentTo"} xref: NCIT:C128401 {source="MONDO:equivalentTo"} xref: UMLS:C0030756 {source="DOID:5502", source="MONDO:equivalentTo", source="NCIT:C128401"} xref: UMLS:C0153317 {source="MONDO:equivalentTo"} xref: UMLS:C0277351 {source="MONDO:equivalentTo"} is_a: MONDO:0002875 {source="DOID:5502", source="MESH:D010373"} ! parasitic ectoparasitic infectious disease property_value: exactMatch DOID:5502 property_value: exactMatch http://identifiers.org/mesh/D010373 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030756 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153317 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0277351 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B85.2 property_value: exactMatch NCIT:C128401 [Term] id: MONDO:0003473 name: spinal cord ependymoma alt_id: MONDO:0021544 def: "An ependymoma that arises from the spinal cord." [NCIT:C3875] synonym: "ependymal neoplasm of the spinal cord" EXACT [DOID:5503, NCIT:C3875] synonym: "ependymoma of spinal cord" EXACT [NCIT:C3875] synonym: "ependymoma of the spinal cord" EXACT [NCIT:C3875] synonym: "spinal cord ependymoma" EXACT [MONDO:patterns/location, NCIT:C3875] xref: DOID:5503 {source="MONDO:equivalentTo"} xref: NCIT:C3875 {source="MONDO:equivalentTo", source="DOID:5503"} xref: SCTID:254949006 {source="MONDO:equivalentTo", source="DOID:5503"} xref: UMLS:C0238432 {source="MONDO:equivalentTo", source="DOID:5503", source="NCIT:C3875"} is_a: EFO:1000028 {source="MONDO:Redundant", source="NCIT:C3875"} ! ependymoma is_a: MONDO:0021546 {source="MONDO:Redundant", source="NCIT:C3875"} ! ependymal tumor of spinal cord property_value: exactMatch DOID:5503 property_value: exactMatch http://identifiers.org/snomedct/254949006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238432 property_value: exactMatch NCIT:C3875 [Term] id: MONDO:0003478 name: childhood ependymoma def: "An ependymoma that arises from the central nervous system and occurs during childhood." [NCIT:C8578] synonym: "childhood ependymoma" EXACT [DOID:5509, NCIT:C8578] synonym: "ependymoma" BROAD [NCIT:C8578] synonym: "ependymoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "paediatric ependymoma" EXACT OMO:0003005 [] synonym: "pediatric ependymoma" EXACT [MONDO:patterns/childhood, NCIT:C8578] xref: DOID:5509 {source="MONDO:equivalentTo"} xref: MESH:C531673 {source="MONDO:equivalentTo"} xref: NCIT:C8578 {source="MONDO:equivalentTo", source="DOID:5509"} is_a: EFO:1000028 {source="MESH:C531673", source="MONDO:Redundant", source="NCIT:C8578"} ! ependymoma is_a: MONDO:0021079 ! childhood neoplasm property_value: exactMatch DOID:5509 property_value: exactMatch http://identifiers.org/mesh/C531673 property_value: exactMatch NCIT:C8578 [Term] id: MONDO:0003495 name: ovarian squamous cell neoplasm def: "A squamous cell tumor that arises from the ovary and is not associated with a germ cell tumor." [NCIT:C40092] synonym: "ovarian squamous cell neoplasm" EXACT [NCIT:C40092] synonym: "ovarian squamous cell tumor" EXACT [NCIT:C40092] synonym: "ovarian squamous cell tumour" EXACT OMO:0003005 [] synonym: "ovary squamous cell neoplasm" EXACT [MONDO:patterns/location] xref: DOID:5532 {source="MONDO:equivalentObsolete"} xref: NCIT:C40092 {source="DOID:5532", source="MONDO:equivalentObsolete"} xref: UMLS:C1518739 {source="NCIT:C40092", source="DOID:5532", source="MONDO:equivalentTo"} is_a: MONDO:0002229 {source="DOID:5532", source="MONDO:Redundant", source="NCIT:C40092"} ! ovarian epithelial tumor is_a: MONDO:0002532 {source="MONDO:Redundant", source="NCIT:C40092"} ! squamous cell neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518739 [Term] id: MONDO:0003500 name: squamous cell bile duct carcinoma def: "A squamous cell carcinoma that involves the bile duct." [MONDO:patterns/location] synonym: "bile duct squamous cell carcinoma" EXACT [DOID:5537, MONDO:patterns/location] xref: DOID:5537 {source="MONDO:equivalentTo"} xref: NCIT:C5777 {source="DOID:5537", source="MONDO:directSiblingOf"} xref: UMLS:C0861861 {source="DOID:5537", source="MONDO:equivalentTo"} is_a: EFO:0005540 {source="DOID:5537", source="MONDO:Redundant"} ! bile duct carcinoma is_a: MONDO:0018534 ! squamous cell carcinoma of liver and intrahepatic biliary tract property_value: exactMatch DOID:5537 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0861861 [Term] id: MONDO:0003510 name: malignant testicular germ cell tumor def: "A malignant tumor predominantly affecting young men and often associated with cryptorchidism. Seminoma is the most frequently seen malignant testicular germ cell tumor, followed by embryonal carcinoma and yolk sac tumor." [NCIT:C9063] synonym: "malignant germ cell neoplasm of testis" EXACT [NCIT:C9063] synonym: "malignant germ cell neoplasm of the testis" EXACT [NCIT:C9063] synonym: "malignant germ cell tumor of testis" EXACT [DOID:5556, NCIT:C9063] synonym: "malignant germ cell tumor of the testis" EXACT [NCIT:C9063] synonym: "malignant germ cell tumour of testis" EXACT OMO:0003005 [] synonym: "malignant germ cell tumour of the testis" EXACT OMO:0003005 [] synonym: "malignant testicular germ cell neoplasm" EXACT [NCIT:C9063] synonym: "malignant testicular germ cell tumor" EXACT [NCIT:C9063] synonym: "testicular ca. (no germ/tropho.)" EXACT [NCIT:C9063] synonym: "testicular cancer" BROAD [NCIT:C9063] synonym: "testicular cancer (excluding germ cell or trophoblastic cancer)" EXACT [NCIT:C9063] synonym: "testicular germ cell cancer" EXACT [NCIT:C9063] synonym: "testicular malignant germ cell cancer" RELATED [DOID:5556] xref: DOID:5556 {source="MONDO:equivalentTo"} xref: ICD9:186.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C9063 {source="DOID:5556", source="MONDO:equivalentTo"} xref: SCTID:713646001 {source="DOID:5556", source="MONDO:equivalentTo"} xref: UMLS:C0855197 {source="DOID:5556", source="MONDO:equivalentTo", source="NCIT:C9063"} is_a: EFO:0005088 {source="DOID:5556/inferred", source="MONDO:Redundant", source="NCIT:C9063"} ! testicular carcinoma is_a: EFO:1000352 {source="MONDO:Redundant", source="NCIT:C9063"} ! Malignant Germ Cell Tumor is_a: EFO:1000566 {source="DOID:5556", source="MONDO:Redundant", source="NCIT:C9063"} ! Testicular Germ Cell Tumor property_value: exactMatch DOID:5556 property_value: exactMatch http://identifiers.org/snomedct/713646001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0855197 property_value: exactMatch NCIT:C9063 [Term] id: MONDO:0003512 name: mediastinal mesenchymal tumor def: "A benign or malignant soft tissue neoplasm of the mediastinum. Representative examples of benign mediastinal soft tissue neoplasms include chondroma, leiomyoma, lipoma, and rhabdomyoma. Representative examples of malignant mediastinal soft tissue neoplasms include angiosarcoma, leiomyosarcoma, liposarcoma, osteosarcoma, rhabdomyosarcoma, and synovial sarcoma." [NCIT:P378] synonym: "mediastinal soft tissue neoplasm" EXACT [NCIT:C6637] synonym: "mediastinal soft tissue tumor" EXACT [NCIT:C6637] synonym: "mediastinal soft tissue tumour" EXACT OMO:0003005 [] synonym: "soft tissue neoplasm of mediastinum" EXACT [NCIT:C6637] synonym: "soft tissue neoplasm of the mediastinum" EXACT [NCIT:C6637] synonym: "soft tissue tumor of mediastinum" EXACT [DOID:5560, NCIT:C6637] synonym: "soft tissue tumor of the mediastinum" EXACT [NCIT:C6637] synonym: "soft tissue tumour of mediastinum" EXACT OMO:0003005 [] synonym: "soft tissue tumour of the mediastinum" EXACT OMO:0003005 [] xref: DOID:5560 {source="MONDO:equivalentTo"} xref: NCIT:C6637 {source="MONDO:equivalentTo", source="DOID:5560"} xref: UMLS:C1334669 {source="MONDO:equivalentTo", source="DOID:5560", source="NCIT:C6637"} is_a: EFO:1000541 {source="MONDO:Redundant", source="NCIT:C6637"} ! Soft Tissue Neoplasm is_a: MONDO:0021386 {source="MONDO:Redundant", source="NCIT:C6637"} ! neoplasm of mediastinum property_value: exactMatch DOID:5560 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334669 property_value: exactMatch NCIT:C6637 property_value: excluded_subClassOf MONDO:0005843 {source="DOID:5560"} [Term] id: MONDO:0003519 name: malignant syringoma def: "A malignant form of syringoma." [MONDO:patterns/malignant] synonym: "MAC" RELATED ABBREVIATION [ONCOTREE:MAC] synonym: "microcystic adnexal carcinoma" EXACT [DOID:5569, NCIT:C7581] synonym: "microcystic adnexal carcinoma of skin" EXACT [DOID:5569] synonym: "syringoma, malignant" EXACT [MONDO:patterns/malignant] synonym: "syringomatous carcinoma" EXACT [DOID:5569] xref: DOID:5569 {source="MONDO:equivalentTo"} xref: NCIT:C7581 {source="MONDO:equivalentTo"} xref: ONCOTREE:MAC {source="MONDO:equivalentTo"} xref: SCTID:254712007 {source="MONDO:equivalentTo"} xref: UMLS:C0346027 {source="MONDO:equivalentTo"} is_a: MONDO:0002191 ! syringoma is_a: MONDO:0002206 ! sweat gland cancer property_value: exactMatch DOID:5569 property_value: exactMatch http://identifiers.org/snomedct/254712007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346027 property_value: exactMatch NCIT:C7581 property_value: excluded_subClassOf MONDO:0005506 {source="DOID:5569"} [Term] id: MONDO:0003523 name: gastrin-producing neuroendocrine tumor def: "A gastrin-producing neuroendocrine tumor. It is usually located in the pancreas but it is also found at other anatomic sites, including the stomach and small intestine." [NCIT:C3050] synonym: "G cell tumor" EXACT [NCIT:C3050] synonym: "G cell tumour" EXACT OMO:0003005 [] synonym: "G-cell gastrin producing tumor" EXACT [NCIT:C3050] synonym: "G-cell gastrin producing tumour" EXACT OMO:0003005 [] synonym: "G-cell tumor" EXACT [NCIT:C3050] synonym: "G-cell tumour" EXACT OMO:0003005 [] synonym: "gastrin cell tumor" EXACT [DOID:5577] synonym: "gastrin cell tumour" EXACT OMO:0003005 [] synonym: "gastrin secreting tumor" EXACT [DOID:5577, NCIT:C3050] synonym: "gastrin secreting tumour" EXACT OMO:0003005 [] synonym: "gastrin-producing NET" EXACT [NCIT:C3050] synonym: "gastrin-producing neuroendocrine tumor" EXACT [NCIT:C3050] synonym: "gastrinoma" EXACT [NCIT:C3050] synonym: "malignant gastrinoma" NARROW [DOID:5577] xref: DOID:5577 {source="MONDO:equivalentTo"} xref: ICDO:8153/1 {source="NCIT:C3050"} xref: NCIT:C3050 {source="DOID:5577", source="MONDO:equivalentTo"} xref: UMLS:CN206461 {source="MONDO:equivalentTo"} is_a: MONDO:0000386 {source="NCIT:C3050"} ! digestive system neuroendocrine tumor, grade 1/2 property_value: exactMatch DOID:5577 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206461 property_value: exactMatch NCIT:C3050 [Term] id: MONDO:0003531 name: papillary eccrine carcinoma synonym: "digital papillary adenocarcinoma" RELATED [DOID:5591] synonym: "eccrine papillary adenocarcinoma" RELATED [DOID:5591] synonym: "papillary apocrine fibroadenoma" EXACT [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl2/] synonym: "papillary eccrine adenoma" EXACT [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl2/] synonym: "papillary eccrine carcinoma" EXACT [NCIT:C27254] synonym: "tubular apocrine adenoma" EXACT [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl2/] xref: DOID:5591 {source="MONDO:equivalentTo"} xref: NCIT:C27254 {source="MONDO:equivalentTo"} xref: SCTID:254709009 {source="MONDO:equivalentTo"} xref: UMLS:C1367774 {source="MONDO:equivalentTo", source="DOID:5591"} is_a: MONDO:0002512 {source="MONDO:Redundant", source="NCIT:C27254"} ! papillary adenocarcinoma is_a: MONDO:0024240 {source="DOID:5591", source="MONDO:Redundant", source="NCIT:C27254"} ! eccrine carcinoma intersection_of: MONDO:0002512 {source="NCIT:C27254"} ! papillary adenocarcinoma intersection_of: MONDO:0024240 {source="NCIT:C27254"} ! eccrine carcinoma property_value: exactMatch DOID:5591 property_value: exactMatch http://identifiers.org/snomedct/254709009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1367774 property_value: exactMatch NCIT:C27254 [Term] id: MONDO:0003537 name: precursor T-lymphoblastic lymphoma/leukemia def: "A neoplasm of lymphoblasts committed to the T-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called T acute lymphoblastic leukemia. When it involves nodal or extranodal sites it is called T lymphoblastic lymphoma. (WHO, 2001)" [NCIT:C8694] synonym: "precursor T lymphoblastic leukemia/lymphoma" EXACT [NCIT:C8694] synonym: "precursor T lymphoblastic lymphoma/leukemia" EXACT [NCIT:C8694] synonym: "precursor T-lymphoblastic lymphoma/leukemia" EXACT [DOID:5599, NCIT:C8694] synonym: "T lymphoblastic leukemia/lymphoma" EXACT [NCIT:C8694] xref: DOID:5599 {source="MONDO:equivalentObsolete"} xref: ICDO:9837/3 {source="NCIT:C8694"} xref: NCIT:C8694 {source="MONDO:equivalentTo"} xref: UMLS:C1301359 {source="NCIT:C8694", source="MONDO:equivalentTo"} is_a: EFO:0009119 {source="DOID:5599", source="MONDO:Redundant", source="NCIT:C8694"} ! precursor lymphoblastic lymphoma/leukemia is_a: MONDO:0024615 {source="MONDO:Redundant", source="NCIT:C8694"} ! T-cell and NK-cell neoplasm intersection_of: EFO:0009119 ! precursor lymphoblastic lymphoma/leukemia intersection_of: MONDO:0024615 ! T-cell and NK-cell neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1301359 property_value: exactMatch NCIT:C8694 [Term] id: MONDO:0003540 name: acute T cell leukemia synonym: "precursor T lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "precursor T lymphoblastic leukemia" EXACT [DOID:5603, NCIT:C3183] synonym: "T-cell acute lymphoblastic leukaemia" RELATED OMO:0003005 [] xref: CSP:2004-1600 {source="DOID:5603"} xref: CSP:2004-1803 {source="DOID:5603"} xref: DOID:5603 {source="MONDO:equivalentTo"} xref: NCIT:C3184 {source="DOID:5603", source="MONDO:directSiblingOf"} xref: SCTID:110007008 {source="DOID:5603", source="MONDO:directSiblingOf"} xref: SCTID:277575008 {source="MONDO:equivalentTo"} xref: UMLS:C0023493 {source="DOID:5603", source="MONDO:directSiblingOf"} is_a: EFO:0000220 ! acute lymphoblastic leukemia is_a: EFO:0005592 {source="DOID:5603"} ! T-cell leukemia property_value: exactMatch DOID:5603 property_value: exactMatch http://identifiers.org/snomedct/277575008 [Term] id: MONDO:0003541 name: adult acute lymphoblastic leukemia def: "An acute lymphoblastic leukemia occurring during adulthood." [NCIT:C4967] synonym: "acute lymphoblastic leukaemia (ALL)" BROAD OMO:0003005 [] synonym: "acute lymphoblastic leukemia (ALL)" BROAD [NCIT:C4967] synonym: "adult acute lymphoblastic leukemia" EXACT [NCIT:C4967] synonym: "adult acute lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "adult acute lymphocytic leukemia" EXACT [NCIT:C4967] synonym: "adult acute lymphogenous leukaemia" EXACT OMO:0003005 [] synonym: "adult acute lymphogenous leukemia" EXACT [NCIT:C4967] synonym: "adult acute lymphoid leukaemia" EXACT OMO:0003005 [] synonym: "adult acute lymphoid leukemia" EXACT [DOID:5604, NCIT:C4967] synonym: "adult ALL" EXACT [NCIT:C4967] synonym: "adult precursor lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "adult precursor lymphoblastic leukemia" EXACT [NCIT:C4967] xref: DOID:5604 {source="MONDO:equivalentTo"} xref: NCIT:C4967 {source="MONDO:equivalentTo", source="DOID:5604"} xref: UMLS:C0751606 {source="MONDO:equivalentTo", source="DOID:5604", source="NCIT:C4967"} is_a: EFO:0000220 {source="DOID:5604", source="NCIT:C4967"} ! acute lymphoblastic leukemia property_value: exactMatch DOID:5604 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751606 property_value: exactMatch NCIT:C4967 [Term] id: MONDO:0003544 name: spinal cord cancer def: "A primary or metastatic malignant neoplasm affecting the spinal cord. Representative examples include lymphoma, melanoma, and sarcoma." [NCIT:C3572] synonym: "cancer of spinal cord" EXACT [MONDO:patterns/cancer] synonym: "intraspinal tumor" BROAD [DOID:5612, NCIT:C3382] synonym: "intraspinal tumour" BROAD OMO:0003005 [] synonym: "malignant neoplasm of spinal cord" EXACT [MONDO:patterns/cancer, NCIT:C3572] synonym: "malignant neoplasm of the spinal cord" EXACT [NCIT:C3572] synonym: "malignant spinal cord neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3572] synonym: "malignant spinal cord tumor" EXACT [NCIT:C3572] synonym: "malignant spinal cord tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of spinal cord" EXACT [NCIT:C3572] synonym: "malignant tumor of the spinal cord" EXACT [DOID:5612, NCIT:C3572] synonym: "malignant tumour of spinal cord" EXACT OMO:0003005 [] synonym: "malignant tumour of the spinal cord" EXACT OMO:0003005 [] synonym: "spinal cancer" EXACT [DOID:5612] synonym: "spinal cord cancer" EXACT [MONDO:patterns/location] synonym: "spinal cord neoplasm" BROAD [DOID:5612] synonym: "spinal neoplasm" RELATED [DOID:5612] synonym: "spine cancer" EXACT [NCIT:C3572] synonym: "tumor of the spinal cord" BROAD [DOID:5612, NCIT:C3381] synonym: "tumour of the spinal cord" BROAD OMO:0003005 [] xref: DOID:5612 {source="MONDO:equivalentTo"} xref: ICD10CM:C72.0 {source="DOID:5612", source="MONDO:equivalentTo"} xref: ICD9:192.2 {source="DOID:5612", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3572 {source="DOID:5612", source="MONDO:equivalentTo"} xref: SCTID:363475005 {source="DOID:5612", source="MONDO:equivalentTo"} xref: UMLS:C0153646 {source="DOID:5612", source="NCIT:C3572", source="MONDO:equivalentTo"} is_a: EFO:0000326 {source="DOID:5612", source="MONDO:Redundant", source="NCIT:C3572"} ! central nervous system cancer is_a: EFO:0003828 {source="MONDO:Redundant", source="NCIT:C3572"} ! spinal cord neoplasm property_value: exactMatch DOID:5612 property_value: exactMatch http://identifiers.org/snomedct/363475005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153646 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/C72.0 property_value: exactMatch NCIT:C3572 [Term] id: MONDO:0003546 name: third cranial nerve disorder def: "A disease involving the oculomotor nerve." [https://orcid.org/0000-0002-6601-2165] synonym: "disease of oculomotor nerve" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of oculomotor nerve" EXACT [] synonym: "disorder of oculomotor nerve" EXACT [DOID:562, MONDO:patterns/location_top] synonym: "oculomotor nerve disease" EXACT [MONDO:patterns/location] synonym: "oculomotor nerve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "oculomotor nerve disorder" EXACT [DOID:562, NCIT:C27598] xref: DOID:562 {source="MONDO:equivalentTo"} xref: MESH:D015840 {source="MONDO:equivalentTo"} xref: NCIT:C27598 {source="MONDO:equivalentTo", source="DOID:562"} xref: SCTID:60750009 {source="MONDO:equivalentTo", source="DOID:562"} xref: UMLS:C0271353 {source="NCIT:C27598", source="MONDO:equivalentTo", source="DOID:562"} is_a: EFO:0009387 {source="DOID:562/inferred", source="MONDO:Redundant"} ! peripheral nervous system disease is_a: MONDO:0003569 {source="DOID:562", source="MESH:D015840/inferred", source="MONDO:Redundant", source="NCIT:C27598"} ! cranial nerve neuropathy property_value: exactMatch DOID:562 property_value: exactMatch http://identifiers.org/mesh/D015840 property_value: exactMatch http://identifiers.org/snomedct/60750009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271353 property_value: exactMatch NCIT:C27598 [Term] id: MONDO:0003549 name: adenosquamous bile duct carcinoma def: "An adenosquamous carcinoma that arises from the bile ducts." [MONDO:patterns/location] synonym: "adenosquamous bile duct carcinoma" EXACT [NCIT:C5778] synonym: "adenosquamous carcinoma of bile duct" EXACT [NCIT:C5778] synonym: "adenosquamous carcinoma of the bile duct" EXACT [NCIT:C5778] synonym: "bile duct adenosquamous carcinoma" EXACT [DOID:5624, MONDO:patterns/location, NCIT:C5778] xref: DOID:5624 {source="MONDO:equivalentTo"} xref: UMLS:C0861854 {source="MONDO:equivalentTo", source="DOID:5624"} is_a: MONDO:0003500 {source="DOID:5624", source="MONDO:Entailed", source="MONDO:Redundant"} ! squamous cell bile duct carcinoma is_a: MONDO:0056815 ! liver adenosquamous carcinoma property_value: exactMatch DOID:5624 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0861854 [Term] id: MONDO:0003561 name: malignant giant cell tumor of soft parts def: "An undifferentiated pleomorphic sarcoma characterized by the presence of osteoclast-like giant cells and cellular pleomorphism." [NCIT:P378] synonym: "giant cell fibrous histiocytoma" EXACT [NCIT:C8380] synonym: "giant cell malignant fibrous histiocytoma" EXACT [NCIT:C8380] synonym: "malignant giant cell neoplasm of soft parts" EXACT [DOID:5638, NCIT:C8380] synonym: "malignant giant cell tumor of soft parts" EXACT [NCIT:C8380] synonym: "malignant giant cell tumor of soft parts (morphologic abnormality)" EXACT [DOID:5638] synonym: "malignant giant cell tumour of soft parts (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "malignant Osteoclastoma" EXACT [NCIT:C8380] synonym: "undifferentiated pleomorphic sarcoma with osteoclast-like giant cells" EXACT [NCIT:C8380] xref: DOID:5638 {source="MONDO:equivalentTo"} xref: ICDO:9251/3 {source="NCIT:C8380"} xref: NCIT:C8380 {source="MONDO:equivalentTo", source="DOID:5638"} xref: UMLS:C0334554 {source="MONDO:equivalentTo", source="DOID:5638", source="NCIT:C8380"} is_a: EFO:1001972 {source="DOID:5638", source="NCIT:C8380"} ! undifferentiated pleomorphic sarcoma is_a: MONDO:0002402 {source="NCIT:C8380"} ! malignant giant cell tumor property_value: exactMatch DOID:5638 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334554 property_value: exactMatch NCIT:C8380 [Term] id: MONDO:0003569 name: cranial nerve neuropathy def: "A neoplastic or non-neoplastic disorder that affects one of the cranial nerves." [NCIT:C26733] synonym: "cranial nerve disease" EXACT [NCIT:C26733] synonym: "cranial nerve disorder" EXACT [DOID:5656, NCIT:C26733] synonym: "cranial neuron projection bundle disease" EXACT [MONDO:patterns/location] synonym: "cranial neuron projection bundle disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "cranial neuropathy" EXACT [NCIT:C26733] synonym: "disease of cranial neuron projection bundle" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of cranial neuron projection bundle" EXACT [] synonym: "disorder of cranial nerve" EXACT [DOID:5656, NCIT:C26733] synonym: "disorder of cranial neuron projection bundle" EXACT [MONDO:patterns/location_top] xref: DOID:5656 {source="MONDO:equivalentTo"} xref: ICD9:352.9 {source="DOID:5656", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D003389 {source="DOID:5656", source="MONDO:equivalentTo"} xref: NCIT:C26733 {source="DOID:5656", source="MONDO:equivalentTo"} xref: SCTID:73013002 {source="DOID:5656", source="MONDO:equivalentTo"} xref: UMLS:C0010266 {source="DOID:5656", source="MONDO:equivalentTo", source="NCIT:C26733"} is_a: EFO:0000618 {source="DOID:5656/inferred", source="MESH:D003389", source="MONDO:Redundant", source="NCIT:C26733"} ! nervous system disease property_value: exactMatch DOID:5656 property_value: exactMatch http://identifiers.org/mesh/D003389 property_value: exactMatch http://identifiers.org/snomedct/73013002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010266 property_value: exactMatch NCIT:C26733 [Term] id: MONDO:0003572 name: nasopharyngeal type undifferentiated carcinoma def: "A nonkeratinizing carcinoma which occurs predominantly in the nasopharynx but also in the tonsils and rarely in other anatomic sites. It is characterized by the presence of large malignant cells with vesicular nuclei, prominent nucleoli, syncytial growth pattern, and a lymphoplasmacytic infiltrate." [NCIT:C4107] synonym: "lymphoepithelial carcinoma" EXACT [DOID:5660, NCIT:C4107] synonym: "lymphoepithelioma" EXACT [NCIT:C4107] synonym: "lymphoepithelioma-like carcinoma" EXACT [DOID:5660, NCIT:C27387, NCIT:C4107] synonym: "nasopharyngeal type undifferentiated carcinoma" EXACT [DOID:5660, NCIT:C4107] synonym: "Schmincke tumor" EXACT [NCIT:C4107] synonym: "Schmincke tumour" EXACT OMO:0003005 [] synonym: "Schminke tumor" EXACT [NCIT:C4107] synonym: "Schminke tumour" EXACT OMO:0003005 [] xref: DOID:5660 {source="MONDO:equivalentTo"} xref: ICDO:8082/3 {source="NCIT:C4107"} xref: NCIT:C4107 {source="MONDO:equivalentTo", source="DOID:5660"} xref: UMLS:C0334254 {source="MONDO:equivalentTo", source="NCIT:C4107", source="DOID:5660"} is_a: MONDO:0005232 {source="NCIT:C4107"} ! large cell carcinoma property_value: exactMatch DOID:5660 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334254 property_value: exactMatch NCIT:C4107 [Term] id: MONDO:0003578 name: extragonadal nonseminomatous germ cell tumor def: "A malignant non-seminomatous germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary." [NCIT:P378] synonym: "cancer of extragonadal non-seminomatous germ cell" EXACT [NCIT:C8885] synonym: "cancer of the extragonadal non-seminomatous germ cell" EXACT [NCIT:C8885] synonym: "extragonadal non-seminomatous germ cell cancer" EXACT [NCIT:C8885] synonym: "extragonadal primary Nonseminoma" EXACT [NCIT:C8885] synonym: "malignant extragonadal non-seminomatous germ cell neoplasm" EXACT [NCIT:C8885] synonym: "malignant extragonadal non-seminomatous germ cell tumor" EXACT [NCIT:C8885] synonym: "malignant extragonadal non-seminomatous germ cell tumour" EXACT OMO:0003005 [] synonym: "malignant extragonadal Nonseminoma" EXACT [NCIT:C8885] synonym: "malignant neoplasm of extragonadal non-seminomatous germ cell" EXACT [NCIT:C8885] synonym: "malignant neoplasm of the extragonadal non-seminomatous germ cell" EXACT [NCIT:C8885] synonym: "malignant tumor of extragonadal non-seminomatous germ cell" EXACT [NCIT:C8885] synonym: "malignant tumor of the extragonadal non-seminomatous germ cell" EXACT [NCIT:C8885] synonym: "malignant tumour of extragonadal non-seminomatous germ cell" EXACT OMO:0003005 [] synonym: "malignant tumour of the extragonadal non-seminomatous germ cell" EXACT OMO:0003005 [] synonym: "primary malignant extragonadal Nonseminoma" EXACT [DOID:5677, NCIT:C8885] xref: DOID:5677 {source="MONDO:equivalentTo"} xref: NCIT:C8885 {source="DOID:5677", source="MONDO:equivalentTo"} xref: UMLS:C1334582 {source="DOID:5677", source="MONDO:equivalentTo"} is_a: MONDO:0003113 {source="DOID:5677", source="MONDO:Redundant", source="NCIT:C8885"} ! extragonadal germ cell cancer is_a: MONDO:0020539 ! extragonadal non-dysgerminomatous germ cell tumor intersection_of: MONDO:0003113 {source="NCIT:C8885"} ! extragonadal germ cell cancer intersection_of: MONDO:0021656 {source="NCIT:C8885"} ! nongerminomatous germ cell tumor property_value: exactMatch DOID:5677 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334582 property_value: exactMatch NCIT:C8885 [Term] id: MONDO:0003582 name: hereditary breast ovarian cancer syndrome def: "An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer." [NCIT:C8493] subset: clingen subset: ordo_disease {source="Orphanet:145"} subset: predisposition synonym: "BRCA1- and BRCA2-associated hereditary breast and ovarian cancer" EXACT [DOID:5683] synonym: "BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC)" EXACT [DOID:5683] synonym: "familial breast and ovarian cancer syndrome" EXACT [NCIT:C8493] synonym: "familial breast/ovarian cancer (BRCA1, BRCA2)" EXACT [NCIT:C8493] synonym: "HBOC syndrome" RELATED [MESH:D061325] synonym: "HBOC syndromes" RELATED [MESH:D061325] synonym: "hereditary breast and ovarian cancer" EXACT [NCIT:C8493] synonym: "hereditary breast and ovarian cancer syndrome" EXACT [MONDO:0015442, NCIT:C8493] synonym: "hereditary breast ovarian cancer" RELATED [DOID:5683] synonym: "hereditary breast ovarian cancer syndrome" EXACT [] synonym: "hereditary breast/ovarian cancer (BRCA1, BRCA2)" EXACT [NCIT:C8493] synonym: "syndrome, HBOC" RELATED [MESH:D061325] synonym: "syndromes, HBOC" RELATED [MESH:D061325] xref: DOID:5683 {source="MONDO:equivalentTo"} xref: ICD10CM:C50 {source="MONDO:relatedTo", source="Orphanet:145/nd", source="Orphanet:145/attributed", source="Orphanet:145"} xref: MESH:D061325 {source="MONDO:equivalentTo", source="DOID:5683"} xref: NCIT:C8493 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5683"} xref: Orphanet:145 {source="MONDO:equivalentTo"} xref: SCTID:718220008 {source="MONDO:equivalentTo"} xref: UMLS:C0677776 {source="Orphanet:145/e", source="MONDO:equivalentTo", source="DOID:5683", source="NCIT:C8493", source="Orphanet:145"} is_a: MONDO:0000426 {source="DOID:5683", source="MONDO:Redundant", source="NCIT:C8493-def"} ! autosomal dominant disease is_a: MONDO:0015356 {source="MESH:D061325", source="NCIT:C8493", source="Orphanet:145"} ! hereditary neoplastic syndrome is_a: MONDO:0020573 ! inherited disease susceptibility relationship: disease_has_feature EFO:0001075 {source="NCIT:C8493"} ! ovarian carcinoma relationship: disease_has_feature MONDO:0004379 {source="NCIT:C8493"} ! female breast carcinoma property_value: exactMatch DOID:5683 property_value: exactMatch http://identifiers.org/mesh/D061325 property_value: exactMatch http://identifiers.org/snomedct/718220008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0677776 property_value: exactMatch NCIT:C8493 property_value: exactMatch Orphanet:145 property_value: excluded_subClassOf MONDO:0015870 {source="Orphanet:145"} property_value: excluded_subClassOf MONDO:0016248 {source="Orphanet:145"} property_value: excluded_subClassOf MONDO:0016419 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/84 xsd:anyURI [Term] id: MONDO:0003594 name: mixed liposarcoma def: "A malignant neoplasm characterized by the presence of a combination of liposarcomatous morphologic subtypes: myxoid/round cell and well differentiated/dedifferentiated liposarcoma or myxoid/round cell and pleomorphic liposarcoma." [NCIT:C4253] synonym: "mixed liposarcoma" EXACT [NCIT:C4253] synonym: "mixed liposarcoma (morphologic abnormality)" EXACT [DOID:5703] xref: DOID:5703 {source="MONDO:equivalentTo"} xref: ICDO:8855/3 {source="NCIT:C4253"} xref: NCIT:C4253 {source="MONDO:equivalentTo", source="DOID:5703", source="MONDO:exact-label-match"} xref: UMLS:C0334472 {source="NCIT:C4253", source="MONDO:equivalentTo", source="DOID:5703"} is_a: EFO:0000569 {source="DOID:5703", source="NCIT:C4253"} ! liposarcoma property_value: exactMatch DOID:5703 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334472 property_value: exactMatch NCIT:C4253 [Term] id: MONDO:0003603 name: non-functioning pituitary gland neoplasm def: "A hormone producing or non-producing pituitary gland adenoma or carcinoma, not associated with a hormonal syndrome." [NCIT:C4009] synonym: "non-functioning endocrine neoplasm of pituitary gland" EXACT [MONDO:design_pattern] synonym: "non-functioning neoplasm of pituitary" EXACT [NCIT:C4009] synonym: "non-functioning neoplasm of pituitary gland" EXACT [NCIT:C4009] synonym: "non-functioning neoplasm of the pituitary" EXACT [NCIT:C4009] synonym: "non-functioning neoplasm of the pituitary gland" EXACT [NCIT:C4009] synonym: "non-functioning pituitary gland neoplasm" EXACT [NCIT:C4009] synonym: "non-functioning pituitary gland tumor" EXACT [NCIT:C4009] synonym: "non-functioning pituitary gland tumour" EXACT OMO:0003005 [] synonym: "non-functioning pituitary neoplasm" EXACT [NCIT:C4009] synonym: "non-functioning pituitary tumor" EXACT [NCIT:C4009] synonym: "non-functioning pituitary tumour" EXACT OMO:0003005 [] synonym: "non-functioning tumor of pituitary" EXACT [NCIT:C4009] synonym: "non-functioning tumor of pituitary gland" EXACT [NCIT:C4009] synonym: "non-functioning tumor of the pituitary" EXACT [NCIT:C4009] synonym: "non-functioning tumor of the pituitary gland" EXACT [NCIT:C4009] synonym: "non-functioning tumour of pituitary" EXACT OMO:0003005 [] synonym: "non-functioning tumour of pituitary gland" EXACT OMO:0003005 [] synonym: "non-functioning tumour of the pituitary" EXACT OMO:0003005 [] synonym: "non-functioning tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "nonfunctional pituitary gland neoplasm" EXACT [NCIT:C4009] synonym: "Nonfunctioning pituitary tumor" EXACT [NCIT:C4009] synonym: "Nonfunctioning pituitary tumour" EXACT OMO:0003005 [] synonym: "pituitary gland non-functioning endocrine neoplasm" EXACT [MONDO:patterns/location] xref: NCIT:C4009 {source="MONDO:equivalentObsolete", source="DOID:5715"} xref: SCTID:448563005 {source="MONDO:equivalentTo"} is_a: MONDO:0017611 ! pituitary tumor is_a: MONDO:0021119 {source="MONDO:Redundant", source="NCIT:C4009"} ! non-functioning endocrine neoplasm disjoint_from: MONDO:0003604 ! functioning pituitary gland neoplasm property_value: exactMatch http://identifiers.org/snomedct/448563005 [Term] id: MONDO:0003604 name: functioning pituitary gland neoplasm def: "A hormone producing pituitary gland tumor, associated with a hormonal syndrome." [NCIT:C7047] synonym: "functioning endocrine neoplasm of pituitary gland" EXACT [MONDO:design_pattern] synonym: "functioning pituitary gland neoplasm" EXACT [NCIT:C7047] synonym: "functioning pituitary neoplasm" EXACT [] synonym: "functioning pituitary tumor" RELATED [] synonym: "functioning pituitary tumour" RELATED OMO:0003005 [] synonym: "growth hormone producing pituitary tumour" RELATED OMO:0003005 [] synonym: "hormone producing pituitary cancer" RELATED [DOID:5716] synonym: "hormone producing pituitary neoplasm" EXACT [NCIT:C7047] synonym: "pituitary gland functioning endocrine neoplasm" EXACT [MONDO:patterns/location] synonym: "pituitary neoplasms, hormone producing" EXACT [NCIT:C7047] synonym: "pituitary tumors, hormone producing" EXACT [DOID:5716, NCIT:C7047] synonym: "secretory pituitary tumor" RELATED [] synonym: "secretory pituitary tumour" RELATED OMO:0003005 [] synonym: "somatotropinoma" RELATED [DOID:5716, NCIT:C7911] xref: DOID:5716 {source="MONDO:equivalentTo"} xref: ICD9:237.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C7047 {source="MONDO:equivalentObsolete", source="DOID:5716"} xref: SCTID:448148000 {source="MONDO:equivalentTo"} xref: UMLS:C0851693 {source="MONDO:equivalentTo", source="DOID:5716"} xref: UMLS:C3163678 {source="MONDO:equivalentTo"} is_a: MONDO:0017611 ! pituitary tumor is_a: MONDO:0021120 {source="MONDO:Redundant", source="NCIT:C7047"} ! functioning endocrine neoplasm property_value: exactMatch DOID:5716 property_value: exactMatch http://identifiers.org/snomedct/448148000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0851693 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3163678 property_value: excluded_subClassOf MONDO:0002109 [Term] id: MONDO:0003606 name: adrenal medulla cancer def: "A malignant neoplasm involving the adrenal medulla" [https://orcid.org/0000-0002-6601-2165] subset: gard_rare {source="GARD:0005755"} synonym: "adrenal medulla cancer" EXACT [MONDO:patterns/location] synonym: "adrenal medulla neoplasm" BROAD [DOID:5719] synonym: "adrenal medulla tumor" BROAD [DOID:5719] synonym: "adrenal medulla tumour" BROAD OMO:0003005 [] synonym: "cancer of adrenal medulla" EXACT [MONDO:patterns/cancer] synonym: "malignant adrenal medulla neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4396] synonym: "malignant adrenal medulla tumor" EXACT [NCIT:C4396] synonym: "malignant adrenal medulla tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of adrenal medulla" EXACT [DOID:5719, MONDO:patterns/cancer, NCIT:C4396] synonym: "malignant neoplasm of the adrenal medulla" EXACT [NCIT:C4396] synonym: "malignant tumor of adrenal medulla" EXACT [NCIT:C4396] synonym: "malignant tumor of the adrenal medulla" EXACT [DOID:5719, NCIT:C4396] synonym: "malignant tumour of adrenal medulla" EXACT OMO:0003005 [] synonym: "malignant tumour of the adrenal medulla" EXACT OMO:0003005 [] xref: DOID:5719 {source="MONDO:equivalentTo"} xref: NCIT:C4396 {source="MONDO:equivalentTo", source="DOID:5719"} xref: SCTID:371965009 {source="MONDO:equivalentTo", source="DOID:5719"} xref: UMLS:C0344456 {source="NCIT:C4396", source="MONDO:equivalentTo", source="DOID:5719"} is_a: MONDO:0002817 {source="DOID:5719", source="MONDO:Redundant", source="NCIT:C4396"} ! adrenal gland cancer is_a: MONDO:0021237 {source="MONDO:Redundant", source="NCIT:C4396"} ! adrenal medulla neoplasm property_value: exactMatch DOID:5719 property_value: exactMatch http://identifiers.org/snomedct/371965009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0344456 property_value: exactMatch NCIT:C4396 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5755/adrenal-medulla-cancer xsd:anyURI {source="GARD:0005755"} [Term] id: MONDO:0003607 name: neuritis of upper limb def: "A neuritis that involves the forelimb." [MONDO:patterns/location] synonym: "forelimb neuritis" EXACT [MONDO:patterns/location] synonym: "neuritis of forelimb" EXACT [] xref: DOID:572 {source="MONDO:equivalentTo"} xref: ICD9:354 {source="DOID:572"} is_a: MONDO:0002122 ! neuritis property_value: exactMatch DOID:572 property_value: excluded_subClassOf MONDO:0002121 {source="DOID:572"} [Term] id: MONDO:0003608 name: optic atrophy def: "A disorder characterized by loss of optic nerve fibers. It may be inherited or acquired. Acquired causes include ischemia, optic nerve neuropathy, glaucoma, trauma, radiation, brain tumors, and multiple sclerosis. It leads to vision disturbances." [NCIT:P378] synonym: "atrophy of optic disc" EXACT OMO:0003005 [] synonym: "atrophy of optic disk" EXACT [DOID:5723] xref: DOID:5723 {source="MONDO:equivalentTo"} xref: ICD10CM:H47.2 {source="MONDO:equivalentTo", source="DOID:5723"} xref: ICD9:377.1 {source="DOID:5723"} xref: ICD9:377.10 {source="MONDO:equivalentTo", source="DOID:5723", source="MONDO:i2s"} xref: MESH:D009896 {source="MONDO:equivalentTo", source="DOID:5723"} xref: NCIT:C34863 {source="MONDO:equivalentTo", source="DOID:5723"} xref: SCTID:76976005 {source="MONDO:equivalentTo", source="DOID:5723"} xref: UMLS:C0029124 {source="MONDO:equivalentTo", source="DOID:5723", source="NCIT:C34863"} xref: UMLS:C1744705 {source="MONDO:equivalentTo"} is_a: MONDO:0002135 {source="DOID:5723", source="MESH:D009896"} ! optic nerve disorder property_value: exactMatch DOID:5723 property_value: exactMatch http://identifiers.org/mesh/D009896 property_value: exactMatch http://identifiers.org/snomedct/76976005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029124 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1744705 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H47.2 property_value: exactMatch NCIT:C34863 [Term] id: MONDO:0003619 name: salpingitis def: "Acute or chronic inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy." [NCIT:P378] synonym: "fallopian tube inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "inflammation of fallopian tube" EXACT [] xref: DOID:5733 {source="MONDO:equivalentTo"} xref: MESH:D012488 {source="DOID:5733", source="MONDO:equivalentTo"} xref: NCIT:C26880 {source="DOID:5733", source="MONDO:equivalentTo"} xref: SCTID:88157006 {source="DOID:5733", source="MONDO:equivalentTo"} xref: UMLS:C0036130 {source="NCIT:C26880", source="DOID:5733", source="MONDO:equivalentTo"} is_a: EFO:0009548 {source="DOID:5733", source="MESH:D012488", source="MONDO:Redundant", source="NCIT:C26880/inferred"} ! fallopian tube disease is_a: EFO:1001388 ! Pelvic Inflammatory Disease property_value: exactMatch DOID:5733 property_value: exactMatch http://identifiers.org/mesh/D012488 property_value: exactMatch http://identifiers.org/snomedct/88157006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036130 property_value: exactMatch NCIT:C26880 [Term] id: MONDO:0003624 name: acinic cell breast carcinoma def: "A breast adenocarcinoma characterized by the presence of serous (acinic cell) differentiation." [NCIT:C40367] synonym: "acinar cell breast carcinoma" EXACT [MONDO:patterns/location] synonym: "acinic cell breast carcinoma" EXACT [NCIT:C40367] synonym: "breast carcinoma of acinar cell" EXACT [MONDO:design_pattern] xref: DOID:5743 {source="MONDO:equivalentTo"} xref: NCIT:C40367 {source="DOID:5743", source="MONDO:equivalentTo"} xref: UMLS:C1515868 {source="DOID:5743", source="MONDO:equivalentTo", source="NCIT:C40367"} is_a: EFO:0000186 ! invasive breast ductal carcinoma is_a: EFO:0000216 {source="DOID:5743", source="MONDO:Redundant", source="NCIT:C40367"} ! acinar cell carcinoma property_value: exactMatch DOID:5743 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1515868 property_value: exactMatch NCIT:C40367 [Term] id: MONDO:0003632 name: endocervicitis def: "Inflammation of the endocervix." [NCIT:P378] synonym: "endocervix inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "inflammation of endocervix" EXACT [] xref: DOID:5757 {source="MONDO:equivalentTo"} xref: NCIT:C26762 {source="DOID:5757", source="MONDO:equivalentTo"} xref: SCTID:31354001 {source="DOID:5757", source="MONDO:equivalentTo"} xref: UMLS:C0014127 {source="NCIT:C26762", source="DOID:5757", source="MONDO:equivalentTo"} is_a: EFO:0009903 {source="MONDO:Redundant"} ! inflammatory disease is_a: MONDO:0002345 {source="DOID:5757", source="NCIT:C26762"} ! cervicitis property_value: exactMatch DOID:5757 property_value: exactMatch http://identifiers.org/snomedct/31354001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014127 property_value: exactMatch NCIT:C26762 [Term] id: MONDO:0003641 name: central nervous system hematopoietic neoplasm def: "A primary or metastatic neoplasm of hematopoietic origin that affects the brain, meninges, or spinal cord. Representative examples include Hodgkin and non-Hodgkin lymphomas, histiocytic tumors, and leukemias." [NCIT:C5503] synonym: "central nervous system haematopoietic and lymphoid system neoplasm" EXACT OMO:0003005 [] synonym: "central nervous system haematopoietic neoplasms" EXACT OMO:0003005 [] synonym: "central nervous system haematopoietic tumour" EXACT OMO:0003005 [] synonym: "central nervous system hematologic cancer" RELATED [DOID:5772] synonym: "central nervous system hematopoietic and lymphoid system neoplasm" EXACT [MONDO:patterns/location] synonym: "central nervous system hematopoietic neoplasm" EXACT [NCIT:C5503] synonym: "central nervous system hematopoietic neoplasms" EXACT [NCIT:C5503] synonym: "central nervous system hematopoietic tumor" EXACT [NCIT:C5503] synonym: "CNS haematopoietic neoplasm" EXACT OMO:0003005 [] synonym: "CNS haematopoietic tumour" EXACT OMO:0003005 [] synonym: "CNS hematopoietic neoplasm" EXACT [NCIT:C5503] synonym: "CNS hematopoietic tumor" EXACT [DOID:5772, NCIT:C5503] synonym: "haematopoietic and lymphoid system neoplasm of central nervous system" EXACT OMO:0003005 [] synonym: "haematopoietic neoplasm of central nervous system" EXACT OMO:0003005 [] synonym: "haematopoietic neoplasm of CNS" EXACT OMO:0003005 [] synonym: "haematopoietic neoplasm of the central nervous system" EXACT OMO:0003005 [] synonym: "haematopoietic neoplasm of the CNS" EXACT OMO:0003005 [] synonym: "haematopoietic tumour of central nervous system" EXACT OMO:0003005 [] synonym: "haematopoietic tumour of the central nervous system" EXACT OMO:0003005 [] synonym: "hematopoietic and lymphoid system neoplasm of central nervous system" EXACT [MONDO:design_pattern] synonym: "hematopoietic neoplasm of central nervous system" EXACT [DOID:5772, NCIT:C5503] synonym: "hematopoietic neoplasm of CNS" EXACT [NCIT:C5503] synonym: "hematopoietic neoplasm of the central nervous system" EXACT [NCIT:C5503] synonym: "hematopoietic neoplasm of the CNS" EXACT [NCIT:C5503] synonym: "hematopoietic tumor of central nervous system" EXACT [NCIT:C5503] synonym: "hematopoietic tumor of the central nervous system" EXACT [NCIT:C5503] synonym: "lymphomas and hemopoietic neoplasms of CNS" EXACT [NCIT:C5503] synonym: "lymphomas and hemopoietic neoplasms of the CNS" EXACT [NCIT:C5503] xref: DOID:5772 {source="MONDO:equivalentTo"} xref: NCIT:C5503 {source="DOID:5772", source="MONDO:equivalentTo"} xref: UMLS:C1332882 {source="DOID:5772", source="MONDO:equivalentTo", source="NCIT:C5503"} is_a: EFO:1000158 {source="MONDO:Redundant", source="NCIT:C5503"} ! Central Nervous System Neoplasm is_a: MONDO:0044881 {source="NCIT:C5503"} ! hematopoietic and lymphoid cell neoplasm property_value: exactMatch DOID:5772 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332882 property_value: exactMatch NCIT:C5503 property_value: excluded_subClassOf MONDO:0002714 {source="DOID:5772"} [Term] id: MONDO:0003649 name: esophageal neuroendocrine tumor def: "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the esophagus." [NCIT:P378] subset: ordo_disease synonym: "esophageal NEN" EXACT [Orphanet:506136] synonym: "esophageal NET" EXACT [NCIT:C95616] synonym: "esophageal neuroendocrine neoplasm" EXACT [Orphanet:506136] synonym: "esophageal neuroendocrine tumor" EXACT [NCIT:C95616] synonym: "esophageal well differentiated endocrine tumor" EXACT [NCIT:C95616] synonym: "esophageal well differentiated endocrine tumor/carcinoma" EXACT [NCIT:C95616] synonym: "esophageal well differentiated endocrine tumour" EXACT OMO:0003005 [] synonym: "esophagus NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "esophagus neuroendocrine neoplasm" EXACT [MONDO:patterns/location] synonym: "esophagus neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm] synonym: "esophagus neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "NEN of esophagus" EXACT [Orphanet:506136] synonym: "NEN of oesophagus" EXACT OMO:0003005 [] synonym: "neuroendocrine neoplasm of esophagus" EXACT [MONDO:patterns/neuroendocrine_neoplasm, Orphanet:506136] synonym: "neuroendocrine neoplasm of oesophagus" EXACT OMO:0003005 [] synonym: "neuroendocrine tumor of esophagus" EXACT [DOID:5784, NCIT:C5821] synonym: "neuroendocrine tumour of oesophagus" EXACT OMO:0003005 [] synonym: "oesophagus NET" EXACT OMO:0003005 [] synonym: "oesophagus neuroendocrine neoplasm" EXACT OMO:0003005 [] synonym: "oesophagus neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT OMO:0003005 [] synonym: "oesophagus neuroendocrine tumour" EXACT OMO:0003005 [] xref: DOID:5784 {source="MONDO:equivalentTo"} xref: NCIT:C95616 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: Orphanet:506136 {source="MONDO:equivalentTo"} xref: UMLS:C1333462 {source="DOID:5784", source="MONDO:equivalentTo"} xref: UMLS:C2987260 {source="NCIT:C95616", source="MONDO:equivalentTo"} is_a: MONDO:0000386 {source="NCIT:C95616"} ! digestive system neuroendocrine tumor, grade 1/2 is_a: MONDO:0021355 {source="MONDO:Redundant", source="NCIT:C95616/inferred"} ! neoplasm of esophagus property_value: exactMatch DOID:5784 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333462 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2987260 property_value: exactMatch NCIT:C95616 property_value: exactMatch Orphanet:506136 [Term] id: MONDO:0003656 name: hemoglobinuria def: "A laboratory test result which indicates free hemoglobin in the urine." [NCIT:P378] comment: May be obsoleted as it represents a finding xref: DOID:582 {source="MONDO:equivalentTo"} xref: ICD10CM:R82.3 {source="MONDO:equivalentTo", source="DOID:582"} xref: ICD9:791.2 {source="DOID:582"} xref: MESH:D006456 {source="MONDO:equivalentTo", source="DOID:582"} xref: UMLS:C0019048 {source="MONDO:equivalentTo", source="DOID:582"} is_a: EFO:0003086 ! kidney disease property_value: exactMatch DOID:582 property_value: exactMatch http://identifiers.org/mesh/D006456 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019048 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/R82.3 [Term] id: MONDO:0003659 name: pediatric lymphoma def: "A Hodgkin or non-Hodgkin lymphoma that occurs during childhood." [NCIT:P378] synonym: "childhood lymphoma" EXACT [NCIT:C5165] synonym: "lymphoma" BROAD [NCIT:C5165] synonym: "pediatric lymphoma" EXACT [NCIT:C5165] xref: DOID:5823 {source="MONDO:equivalentTo"} xref: NCIT:C5165 {source="DOID:5823", source="MONDO:equivalentTo"} xref: UMLS:C1332979 {source="NCIT:C5165", source="DOID:5823", source="MONDO:equivalentTo"} is_a: EFO:0000574 {source="DOID:5823", source="NCIT:C5165"} ! lymphoma is_a: EFO:1000654 {source="NCIT:C5165"} ! childhood cancer property_value: exactMatch DOID:5823 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332979 property_value: exactMatch NCIT:C5165 [Term] id: MONDO:0003660 name: adult lymphoma def: "A lymphoma that occurs in an adult." [MONDO:design_pattern] synonym: "adult lymphoma" EXACT [NCIT:C7587] synonym: "lymphoma" BROAD [NCIT:C7587] synonym: "lymphoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: DOID:5825 {source="MONDO:equivalentTo"} xref: NCIT:C7587 {source="MONDO:equivalentTo", source="DOID:5825"} xref: UMLS:C1332206 {source="NCIT:C7587", source="MONDO:equivalentTo", source="DOID:5825"} is_a: EFO:0000574 {source="DOID:5825", source="MONDO:Redundant", source="NCIT:C7587"} ! lymphoma property_value: exactMatch DOID:5825 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332206 property_value: exactMatch NCIT:C7587 [Term] id: MONDO:0003661 name: breast lymphoma def: "A lymphoma that arises from the breast. There is no history of extramammary breast lymphoma and ipsilateral axillary lymph node involvement does not exclude the diagnosis of primary breast lymphoma. Most patients present with a painless breast lump. The vast majority of cases are B-cell non-Hodgkin lymphomas. Diffuse large B-cell lymphoma, follicular lymphoma, and extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue are the most common types of primary non-Hodgkin lymphoma of the breast. Primary Hodgkin lymphoma of the breast is rare." [NCIT:P378] synonym: "breast lymphoma" EXACT [MONDO:patterns/location, NCIT:C4671] synonym: "lymphoma of breast" EXACT [DOID:5826, NCIT:C4671] synonym: "lymphoma of the breast" EXACT [DOID:5826, NCIT:C4671] synonym: "malignant lymphoma of breast" EXACT [DOID:5826] synonym: "primary breast lymphoma" EXACT [NCIT:C4671] xref: DOID:5826 {source="MONDO:equivalentTo"} xref: NCIT:C4671 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:278052009 {source="MONDO:equivalentTo", source="DOID:5826"} xref: UMLS:C0349669 {source="NCIT:C4671", source="MONDO:equivalentTo", source="DOID:5826"} xref: UMLS:C1704251 {source="MONDO:equivalentTo"} is_a: EFO:0000574 {source="DOID:5826", source="MONDO:Redundant", source="NCIT:C4671/inferred"} ! lymphoma is_a: MONDO:0007254 {source="DOID:5826", source="MONDO:Redundant", source="NCIT:C4671"} ! breast cancer property_value: exactMatch DOID:5826 property_value: exactMatch http://identifiers.org/snomedct/278052009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349669 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1704251 property_value: exactMatch NCIT:C4671 [Term] id: MONDO:0003668 name: extragonadal seminoma synonym: "extragonadal primary seminoma" EXACT [NCIT:C7327] synonym: "extragonadal seminoma" EXACT [NCIT:C7327] synonym: "primary extragonadal seminoma" EXACT [DOID:5838, NCIT:C7327] xref: DOID:5838 {source="MONDO:equivalentTo"} xref: NCIT:C7327 {source="MONDO:equivalentTo", source="DOID:5838", source="MONDO:exact-label-match"} xref: UMLS:C1333502 {source="MONDO:equivalentTo", source="NCIT:C7327", source="DOID:5838"} is_a: MONDO:0003001 {source="DOID:5838", source="NCIT:C7327"} ! seminoma is_a: MONDO:0003113 {source="NCIT:C7327"} ! extragonadal germ cell cancer property_value: exactMatch DOID:5838 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333502 property_value: exactMatch NCIT:C7327 [Term] id: MONDO:0003680 name: periosteal chondrosarcoma alt_id: MONDO:0003683 def: "A chondrosarcoma arising from the surface of bone. It is characterized by a lobulated growth pattern, high mitotic activity, myxoid stroma formation, and necrotic changes. It occurs in adults. Clinical presentation includes pain, and sometimes swelling." [NCIT:C7357] synonym: "chondrosarcoma (disease) of periosteum" EXACT [] synonym: "juxtacortical chondrosarcoma" EXACT [NCIT:C7357] synonym: "juxtacortical chondrosarcoma (morphologic abnormality)" EXACT [DOID:5866] synonym: "periosteal chondrosarcoma" EXACT [DOID:5859, NCIT:C7357] synonym: "periosteum chondrosarcoma (disease)" EXACT [MONDO:patterns/location] xref: DOID:5859 {source="MONDO:equivalentTo"} xref: DOID:5866 {source="MONDO:equivalentTo"} xref: ICDO:9221/3 {source="NCIT:C7357"} xref: NCIT:C7357 {source="MONDO:equivalentTo", source="DOID:5866"} xref: UMLS:C0334549 {source="MONDO:equivalentTo", source="DOID:5866", source="NCIT:C7357"} is_a: MONDO:0000515 ! bone chondrosarcoma is_a: MONDO:0021054 {source="NCIT:C7357"} ! bone sarcoma property_value: exactMatch DOID:5859 property_value: exactMatch DOID:5866 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334549 property_value: exactMatch NCIT:C7357 [Term] id: MONDO:0003681 name: myxoid chondrosarcoma def: "A chondrosarcoma characterized by the presence of myxoid changes." [NCIT:C4303] synonym: "MYCHS" RELATED ABBREVIATION [ONCOTREE:MYCHS] synonym: "myxoid chondrosarcoma" EXACT [NCIT:C4303] xref: DOID:5861 {source="MONDO:equivalentTo"} xref: ICDO:9231/3 {source="NCIT:C4303"} xref: NCIT:C4303 {source="DOID:5861", source="MONDO:equivalentObsolete", source="MONDO:exact-label-match"} xref: ONCOTREE:MYCHS {source="MONDO:equivalentTo"} xref: UMLS:C0334551 {source="DOID:5861", source="MONDO:equivalentTo", source="NCIT:C4303"} is_a: EFO:0000333 {source="DOID:5861", source="NCIT:C4303", source="ONCOTREE:MYCHS"} ! chondrosarcoma property_value: exactMatch DOID:5861 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334551 [Term] id: MONDO:0003684 name: clear cell chondrosarcoma def: "A rare, usually low grade chondrosarcoma characterized by the presence of tumor cells with clear cytoplasm. It usually arises in the epiphyseal ends of long bones." [NCIT:C6475] synonym: "clear cell chondrosarcoma" EXACT [DOID:5867, NCIT:C6475] synonym: "clear cell chondrosarcoma (morphologic abnormality)" EXACT [DOID:5867] xref: DOID:5867 {source="MONDO:equivalentTo"} xref: ICDO:9242/3 {source="NCIT:C6475"} xref: NCIT:C6475 {source="DOID:5867", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1266167 {source="NCIT:C6475", source="DOID:5867", source="MONDO:equivalentTo"} is_a: MONDO:0000515 ! bone chondrosarcoma is_a: MONDO:0021054 {source="NCIT:C6475"} ! bone sarcoma property_value: exactMatch DOID:5867 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266167 property_value: exactMatch NCIT:C6475 [Term] id: MONDO:0003686 name: apocrine sweat gland neoplasm def: "A benign or malignant sweat gland neoplasm with apocrine differentiation. Representative examples include apocrine adenoma, ceruminous adenocarcinoma, and apocrine breast carcinoma." [NCIT:P378] synonym: "apocrine neoplasm" EXACT [NCIT:C6798] synonym: "apocrine neoplasm of skin" EXACT [NCIT:C6798] synonym: "apocrine neoplasm of the skin" EXACT [NCIT:C6798] synonym: "apocrine skin neoplasm" EXACT [NCIT:C6798] synonym: "apocrine skin tumor" EXACT [NCIT:C6798] synonym: "apocrine skin tumour" EXACT OMO:0003005 [] synonym: "apocrine sweat gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "apocrine sweat gland tumor" EXACT [MONDO:patterns/neoplasm] synonym: "apocrine sweat gland tumour" EXACT OMO:0003005 [] synonym: "apocrine tumor" EXACT [DOID:5876, NCIT:C6798] synonym: "apocrine tumor of skin" EXACT [NCIT:C6798] synonym: "apocrine tumor of the skin" EXACT [NCIT:C6798] synonym: "apocrine tumour" EXACT OMO:0003005 [] synonym: "apocrine tumour of skin" EXACT OMO:0003005 [] synonym: "apocrine tumour of the skin" EXACT OMO:0003005 [] synonym: "neoplasm of apocrine sweat gland" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of apocrine sweat gland" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of apocrine sweat gland" EXACT OMO:0003005 [] xref: DOID:5876 {source="MONDO:equivalentTo"} xref: NCIT:C6798 {source="DOID:5876", source="MONDO:equivalentTo"} xref: UMLS:C1332318 {source="DOID:5876", source="MONDO:equivalentTo"} is_a: EFO:1001204 {source="DOID:5876", source="MONDO:Redundant", source="NCIT:C6798"} ! sweat gland neoplasm is_a: EFO:1002046 ! apocrine sweat gland disease property_value: exactMatch DOID:5876 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332318 property_value: exactMatch NCIT:C6798 [Term] id: MONDO:0003688 name: well differentiated papillary mesothelioma def: "A localized or multifocal mesothelioma arising from the peritoneum and less often the pleura. Cases arising from the peritoneum predominantly occur in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to malignant mesothelioma." [NCIT:P378] synonym: "benign intermediate mesothelioma" RELATED [DOID:5884] synonym: "benign/Intermediate mesothelioma" EXACT [NCIT:C7635] synonym: "WDPM" EXACT ABBREVIATION [NCIT:C7635] synonym: "well differentiated papillary mesothelioma" EXACT [NCIT:C7635] synonym: "well-differentiated mesothelial papillary neoplasm" EXACT [NCIT:C7635] synonym: "well-differentiated mesothelial papillary tumor" EXACT [NCIT:C7635] synonym: "well-differentiated mesothelial papillary tumour" EXACT OMO:0003005 [] synonym: "well-differentiated papillary neoplasm of mesothelium" EXACT [NCIT:C7635] synonym: "well-differentiated papillary neoplasm of the mesothelium" EXACT [NCIT:C7635] synonym: "well-differentiated papillary tumor of mesothelium" EXACT [DOID:5884, NCIT:C7635] synonym: "well-differentiated papillary tumor of the mesothelium" EXACT [NCIT:C7635] synonym: "well-differentiated papillary tumour of mesothelium" EXACT OMO:0003005 [] synonym: "well-differentiated papillary tumour of the mesothelium" EXACT OMO:0003005 [] xref: DOID:5884 {source="MONDO:equivalentTo"} xref: ICDO:9052/1 {source="NCIT:C7635"} xref: NCIT:C7635 {source="DOID:5884", source="MONDO:equivalentTo"} xref: UMLS:C1337012 {source="DOID:5884", source="MONDO:equivalentTo", source="NCIT:C7635"} is_a: EFO:0000588 {source="NCIT:C7635"} ! mesothelioma property_value: exactMatch DOID:5884 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1337012 property_value: exactMatch NCIT:C7635 [Term] id: MONDO:0003689 name: familial hemolytic anemia def: "A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies." [NCIT:C34379] subset: gard_rare {source="GARD:0006167"} synonym: "anaemia hemolytic congenital" RELATED OMO:0003005 [] synonym: "anemia hemolytic congenital" RELATED [GARD:0006167] synonym: "congenital hemolytic anaemia" EXACT OMO:0003005 [] synonym: "congenital hemolytic anemia" EXACT [NCIT:C34379] synonym: "hereditary hemolytic anaemia" EXACT OMO:0003005 [] synonym: "hereditary hemolytic anemia" EXACT [DOID:589, MONDO:patterns/hereditary, NCIT:C34379] xref: DOID:589 {source="MONDO:equivalentTo"} xref: ICD9:282 {source="DOID:589"} xref: ICD9:282.9 {source="DOID:589"} xref: MESH:D000745 {source="DOID:589", source="MONDO:equivalentTo"} xref: NCIT:C34379 {source="DOID:589", source="MONDO:equivalentTo"} xref: SCTID:42601008 {source="DOID:589", source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0004139 ! normocytic anemia property_value: exactMatch DOID:589 property_value: exactMatch http://identifiers.org/mesh/D000745 property_value: exactMatch http://identifiers.org/snomedct/42601008 property_value: exactMatch NCIT:C34379 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6167/congenital-hemolytic-anemia xsd:anyURI {source="GARD:0006167"} [Term] id: MONDO:0003710 name: ovarian mixed germ cell neoplasm def: "An ovarian malignant germ cell tumor characterized by the presence of at least two different germ cell components. At least one of the germ cell components is primitive. The most common combination of germ cell elements is dysgerminoma and yolk sac tumor." [NCIT:P378] synonym: "mixed germ cell neoplasm of ovary" EXACT [NCIT:C8114] synonym: "mixed germ cell neoplasm of the ovary" EXACT [NCIT:C8114] synonym: "mixed germ cell tumor" RELATED [ONCOTREE:OMGCT] synonym: "mixed germ cell tumor of ovary" EXACT [DOID:5936, NCIT:C8114] synonym: "mixed germ cell tumor of the ovary" EXACT [NCIT:C8114] synonym: "mixed germ cell tumour" RELATED OMO:0003005 [] synonym: "mixed germ cell tumour of ovary" EXACT OMO:0003005 [] synonym: "mixed germ cell tumour of the ovary" EXACT OMO:0003005 [] synonym: "ovarian mixed germ cell neoplasm" EXACT [NCIT:C8114] synonym: "ovarian mixed germ cell tumor" EXACT [NCIT:C8114] synonym: "ovarian mixed germ cell tumour" EXACT OMO:0003005 [] synonym: "ovary mixed germ cell tumor" EXACT [MONDO:patterns/location] synonym: "ovary mixed germ cell tumour" EXACT OMO:0003005 [] xref: DOID:5936 {source="MONDO:equivalentTo"} xref: NCIT:C8114 {source="MONDO:equivalentTo", source="DOID:5936"} xref: ONCOTREE:OMGCT {source="MONDO:equivalentTo"} xref: UMLS:C0280135 {source="NCIT:C8114", source="MONDO:equivalentTo", source="DOID:5936"} is_a: MONDO:0003408 {source="DOID:5936", source="MONDO:Redundant", source="NCIT:C8114"} ! ovarian primitive germ cell tumor is_a: MONDO:0015864 {source="DOID:5936", source="MONDO:Redundant", source="NCIT:C8114"} ! mixed germ cell tumor property_value: exactMatch DOID:5936 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280135 property_value: exactMatch NCIT:C8114 [Term] id: MONDO:0003714 name: bladder urachal squamous cell carcinoma synonym: "bladder urachal squamous cell carcinoma" EXACT [NCIT:C39845] xref: DOID:5957 {source="MONDO:equivalentTo"} xref: NCIT:C39845 {source="MONDO:equivalentTo", source="DOID:5957", source="MONDO:exact-label-match"} xref: UMLS:C1511206 {source="MONDO:equivalentTo", source="DOID:5957", source="NCIT:C39845"} is_a: EFO:1000130 {source="MONDO:Redundant", source="NCIT:C39845"} ! Bladder Squamous Cell Carcinoma is_a: MONDO:0003715 {source="DOID:5957", source="MONDO:Redundant", source="NCIT:C39845"} ! bladder urachal carcinoma property_value: exactMatch DOID:5957 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511206 property_value: exactMatch NCIT:C39845 [Term] id: MONDO:0003715 name: bladder urachal carcinoma def: "Urachal cancer is a type of bladder cancer, making up less than 1% of all bladder cancers. The urachus is a structure normally only present during development in the womb that connects the bellybutton and the bladder. This connection normally disappears before birth, but in some people remains. Urachalcancers are usually diagnosed in adults in their 50's and 60's and may develop at the dome or anterior wall of the bladder, along the midline of the body (including the belly button), and between the pubis symphasis and the bladder.Most urachal cancersare adenocarcinomas (cancers that develop from gland cells).Others may besarcomas (which develop from connective tissue -such as leiomyosarcoma, rhabdomyosarcoma, and malignant fibrous histiocytoma), small cell carcinomas, transitional cell cancer, and mixed neoplasias. Most individuals with urachal cancer have symptoms of with hematuria (blood in urine). Other symptoms may include abdominal pain, a palpable abdominal mass, mucinuria, and bacteriuria. Treatment usually involved surgery to remove the cancer." [GARD:0007836] subset: gard_rare synonym: "bladder urachal cancer" EXACT [NCIT:C39842] synonym: "bladder urachal carcinoma" EXACT [NCIT:C39842] synonym: "urachal carcinoma" RELATED [GARD:0007836, ONCOTREE:URCA] xref: DOID:5958 {source="MONDO:equivalentTo"} xref: MESH:C536475 {source="MONDO:equivalentTo"} xref: NCIT:C39842 {source="MONDO:equivalentTo", source="DOID:5958", source="MONDO:exact-label-match"} xref: ONCOTREE:URCA {source="MONDO:equivalentTo"} xref: UMLS:C1511205 {source="MONDO:equivalentObsolete", source="NCIT:C39842", source="DOID:5958"} is_a: MONDO:0004986 {source="DOID:5958", source="MONDO:Redundant", source="NCIT:C39842"} ! urinary bladder carcinoma property_value: exactMatch DOID:5958 property_value: exactMatch http://identifiers.org/mesh/C536475 property_value: exactMatch NCIT:C39842 [Term] id: MONDO:0003719 name: renal pelvis neoplasm def: "A neoplasm (disease) that involves the renal pelvis." [MONDO:patterns/location] synonym: "kidney pelvis neoplasm" EXACT [NCIT:C8404] synonym: "kidney pelvis tumor" EXACT [NCIT:C8404] synonym: "kidney pelvis tumour" EXACT OMO:0003005 [] synonym: "neoplasm of kidney pelvis" EXACT [NCIT:C8404] synonym: "neoplasm of renal pelvis" EXACT [MONDO:patterns/neoplasm, NCIT:C8404] synonym: "neoplasm of the kidney pelvis" EXACT [NCIT:C8404] synonym: "neoplasm of the renal pelvis" EXACT [NCIT:C8404] synonym: "renal pelvis neoplasm" EXACT [NCIT:C8404] synonym: "renal pelvis neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "renal pelvis tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C8404] synonym: "renal pelvis tumour" EXACT OMO:0003005 [] synonym: "tumor of kidney pelvis" EXACT [DOID:5977, NCIT:C8404] synonym: "tumor of renal pelvis" EXACT [MONDO:patterns/neoplasm, NCIT:C8404] synonym: "tumor of the kidney pelvis" EXACT [NCIT:C8404] synonym: "tumor of the renal pelvis" EXACT [NCIT:C8404] synonym: "tumour of kidney pelvis" EXACT OMO:0003005 [] synonym: "tumour of renal pelvis" EXACT OMO:0003005 [] synonym: "tumour of the kidney pelvis" EXACT OMO:0003005 [] synonym: "tumour of the renal pelvis" EXACT OMO:0003005 [] xref: DOID:5977 {source="MONDO:equivalentTo"} xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C8404 {source="DOID:5977", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:126881002 {source="DOID:5977", source="MONDO:equivalentTo"} xref: UMLS:C0346260 {source="DOID:5977", source="MONDO:equivalentTo", source="NCIT:C8404"} is_a: EFO:0003865 {source="MONDO:Redundant", source="NCIT:C8404"} ! kidney neoplasm property_value: exactMatch DOID:5977 property_value: exactMatch http://identifiers.org/snomedct/126881002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346260 property_value: exactMatch NCIT:C8404 [Term] id: MONDO:0003724 name: non-proliferative fibrocystic change of the breast def: "Breast fibrocystic change characterized by the absence of epithelial cell hyperplasia." [NCIT:P378] synonym: "breast fibrocystic change, non-proliferative type" EXACT [NCIT:C6943] synonym: "non-proliferative fibrocystic change" EXACT [DOID:5997, NCIT:C6943] synonym: "non-proliferative fibrocystic change of breast" EXACT [NCIT:C6943] xref: DOID:5997 {source="MONDO:equivalentTo"} xref: NCIT:C6943 {source="DOID:5997", source="MONDO:equivalentTo"} xref: UMLS:C1332628 {source="DOID:5997", source="MONDO:equivalentTo", source="NCIT:C6943"} is_a: EFO:0003014 {source="DOID:5997", source="NCIT:C6943"} ! breast fibrocystic disease property_value: exactMatch DOID:5997 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332628 property_value: exactMatch NCIT:C6943 [Term] id: MONDO:0003735 name: central nervous system immature teratoma def: "A variant of teratoma composed of incompletely differentiated components resembling fetal tissues. Even if the immature component is only a minor element of an otherwise differentiated teratoma, the tumor is still classified as immature. (Adapted from WHO)" [NCIT:C7014] synonym: "central nervous system immature teratoma" EXACT [NCIT:C7014] synonym: "CNS immature teratoma" EXACT [NCIT:C7014] synonym: "immature teratoma" RELATED [ONCOTREE:BIMT] synonym: "immature teratoma of central nervous system" EXACT [NCIT:C7014] synonym: "immature teratoma of CNS" EXACT [NCIT:C7014] synonym: "immature teratoma of the central nervous system" EXACT [NCIT:C7014] synonym: "immature teratoma of the CNS" EXACT [DOID:6019, NCIT:C7014] xref: DOID:6019 {source="MONDO:equivalentTo"} xref: NCIT:C7014 {source="DOID:6019", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:BIMT {source="MONDO:equivalentTo"} xref: UMLS:C1332883 {source="DOID:6019", source="NCIT:C7014", source="MONDO:equivalentTo"} is_a: MONDO:0002718 {source="DOID:6019", source="NCIT:C7014"} ! central nervous system teratoma property_value: exactMatch DOID:6019 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332883 property_value: exactMatch NCIT:C7014 [Term] id: MONDO:0003739 name: selective immunoglobulin deficiency disease def: "A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the five immunoglobulin classes. Deficiencies of immunoglobulins present variably according to isotype. Selective deficiencies may be caused by decreased or inefficient production from progenitor B cells without any corresponding decreases in the other isotypes. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity." [NCIT:C27870] synonym: "selective Immunoglobulin isotype deficiency" EXACT [NCIT:C27870] xref: DOID:6025 {source="MONDO:equivalentTo"} xref: NCIT:C27870 {source="DOID:6025", source="MONDO:equivalentTo"} xref: UMLS:C1335942 {source="DOID:6025", source="NCIT:C27870", source="MONDO:equivalentTo"} is_a: MONDO:0002211 {source="DOID:6025", source="NCIT:C27870"} ! B cell deficiency property_value: exactMatch DOID:6025 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335942 property_value: exactMatch NCIT:C27870 [Term] id: MONDO:0003744 name: spindle cell intraocular melanoma def: "A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of spindle-shaped melanocytes." [NCIT:P378] synonym: "spindle cell melanoma of the uvea" EXACT [NCIT:C7986] synonym: "spindle cell melanoma of uvea" EXACT [NCIT:C7986] synonym: "spindle cell uveal melanoma" EXACT [NCIT:C7986] synonym: "uveal spindle cell melanoma" EXACT [DOID:6037, NCIT:C7986] xref: DOID:6037 {source="MONDO:equivalentTo"} xref: NCIT:C7986 {source="DOID:6037", source="MONDO:equivalentTo"} xref: UMLS:C0279687 {source="DOID:6037", source="MONDO:equivalentTo", source="NCIT:C7986"} is_a: EFO:1000546 {source="NCIT:C7986"} ! Spindle Cell Melanoma is_a: EFO:1000616 {source="NCIT:C7986"} ! Uveal Melanoma is_a: MONDO:0020663 ! malignant spindle cell neoplasm property_value: exactMatch DOID:6037 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279687 property_value: exactMatch NCIT:C7986 [Term] id: MONDO:0003751 name: childhood germ cell tumor def: "A germ cell tumor that occurs during childhood." [NCIT:C7928] synonym: "childhood germ cell neoplasm" EXACT [NCIT:C7928] synonym: "childhood germ cell tumor" EXACT [NCIT:C7928] synonym: "germ cell tumor" BROAD [NCIT:C7928] synonym: "germ cell tumour" BROAD OMO:0003005 [] synonym: "paediatric germ cell cancer" RELATED OMO:0003005 [] synonym: "paediatric germ cell neoplasm" EXACT OMO:0003005 [] synonym: "paediatric germ cell tumour" EXACT OMO:0003005 [] synonym: "pediatric germ cell cancer" RELATED [DOID:6053] synonym: "pediatric germ cell neoplasm" EXACT [DOID:6053, NCIT:C7928] synonym: "pediatric germ cell tumor" EXACT [DOID:6053, NCIT:C7928] xref: DOID:6053 {source="MONDO:equivalentTo"} xref: NCIT:C7928 {source="MONDO:equivalentTo", source="DOID:6053"} xref: UMLS:C0279014 {source="NCIT:C7928", source="MONDO:equivalentTo", source="DOID:6053"} is_a: EFO:0000514 {source="DOID:6053", source="MONDO:Redundant", source="NCIT:C7928"} ! germ cell tumor is_a: MONDO:0021079 {source="MONDO:Redundant", source="NCIT:C7928"} ! childhood neoplasm property_value: exactMatch DOID:6053 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279014 property_value: exactMatch NCIT:C7928 [Term] id: MONDO:0003755 name: urinary tract non-invasive transitional cell neoplasm synonym: "non-invasive transitional cell neoplasm of the urinary tract" EXACT [NCIT:C39854] synonym: "non-invasive urothelial neoplasm" EXACT [NCIT:C39854] xref: DOID:6065 {source="MONDO:equivalentTo"} xref: NCIT:C39854 {source="MONDO:equivalentTo", source="DOID:6065"} xref: UMLS:C1518361 {source="MONDO:equivalentTo", source="NCIT:C39854", source="DOID:6065"} is_a: MONDO:0024337 {source="MONDO:Redundant", source="NCIT:C39854"} ! urothelial neoplasm property_value: exactMatch DOID:6065 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518361 property_value: exactMatch NCIT:C39854 property_value: excluded_subClassOf MONDO:0003443 {source="DOID:6065"} [Term] id: MONDO:0003756 name: ovarian mucinous neoplasm def: "A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract." [NCIT:C5242] synonym: "malignant ovarian mucinous neoplasm" NARROW [DOID:6067] synonym: "mucinous neoplasm of ovary" EXACT [NCIT:C5242] synonym: "mucinous neoplasm of the ovary" EXACT [NCIT:C5242] synonym: "mucinous tumor of ovary" EXACT [DOID:6067, NCIT:C5242] synonym: "mucinous tumor of the ovary" EXACT [NCIT:C5242] synonym: "mucinous tumour of ovary" EXACT OMO:0003005 [] synonym: "mucinous tumour of the ovary" EXACT OMO:0003005 [] synonym: "ovarian mucinous neoplasm" EXACT [NCIT:C5242] synonym: "ovarian mucinous tumor" EXACT [DOID:6067, NCIT:C5242] synonym: "ovarian mucinous tumour" EXACT OMO:0003005 [] xref: DOID:6067 {source="MONDO:equivalentTo"} xref: NCIT:C5242 {source="MONDO:equivalentTo", source="DOID:6067"} xref: UMLS:C1335168 {source="NCIT:C5242", source="MONDO:equivalentTo", source="DOID:6067"} is_a: MONDO:0002229 {source="DOID:6067", source="NCIT:C5242"} ! ovarian epithelial tumor property_value: exactMatch DOID:6067 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335168 property_value: exactMatch NCIT:C5242 [Term] id: MONDO:0003761 name: leptomeningeal melanoma def: "A melanoma that arises from leptomeningeal melanocytes." [NCIT:C5317] comment: Editor note: TODO check meninx vs leptomeninges synonym: "leptomeningeal melanoma" EXACT [NCIT:C5317] synonym: "leptomeninx melanoma" EXACT [] synonym: "leptomeninx melanoma (disease)" EXACT [MONDO:patterns/location] synonym: "malignant melanoma of meninges" EXACT [] synonym: "melanoma (disease) of leptomeninx" EXACT [] synonym: "melanoma of leptomeninges" RELATED [NCIT:C5317] synonym: "melanoma of the leptomeninges" EXACT [DOID:6085, NCIT:C5317] synonym: "meningeal melanoma" EXACT [NCIT:C5317] xref: DOID:6085 {source="MONDO:equivalentTo"} xref: NCIT:C5317 {source="MONDO:equivalentTo", source="DOID:6085", source="NCIT:C5317"} xref: SCTID:277530005 {source="MONDO:equivalentTo"} xref: UMLS:C1334386 {source="MONDO:equivalentTo", source="DOID:6085", source="NCIT:C5317"} is_a: MONDO:0003762 {source="DOID:6085", source="MONDO:Redundant", source="NCIT:C5317"} ! malignant leptomeningeal tumor is_a: MONDO:0016747 {source="MONDO:Redundant", source="NCIT:C5317"} ! primary melanoma of the central nervous system property_value: exactMatch DOID:6085 property_value: exactMatch http://identifiers.org/snomedct/277530005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334386 property_value: exactMatch NCIT:C5317 [Term] id: MONDO:0003762 name: malignant leptomeningeal tumor def: "A primary or metastatic malignant tumor involving the leptomeninges." [NCIT:C8506] synonym: "cancer of leptomeninx" EXACT [MONDO:patterns/cancer] synonym: "leptomeningeal cancer" RELATED [NCIT:C8506] synonym: "leptomeninx cancer" EXACT [MONDO:patterns/location] synonym: "malignant leptomeningeal neoplasm" EXACT [NCIT:C8506] synonym: "malignant leptomeningeal tumor" EXACT [NCIT:C8506] synonym: "malignant leptomeninx neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of leptomeninges" RELATED [NCIT:C8506] synonym: "malignant neoplasm of leptomeninx" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the leptomeninges" RELATED [NCIT:C8506] synonym: "malignant tumor of leptomeninges" EXACT [DOID:6086, NCIT:C8506] synonym: "malignant tumor of the leptomeninges" RELATED [NCIT:C8506] synonym: "malignant tumour of leptomeninges" EXACT OMO:0003005 [] synonym: "malignant tumour of the leptomeninges" RELATED OMO:0003005 [] xref: DOID:6086 {source="MONDO:equivalentTo"} xref: NCIT:C8506 {source="MONDO:equivalentTo", source="DOID:6086", source="NCIT:C8506"} xref: UMLS:C1334596 {source="MONDO:equivalentTo", source="DOID:6086", source="NCIT:C8506"} is_a: MONDO:0016642 {source="DOID:6086"} ! meningioma is_a: MONDO:0021322 {source="MONDO:Redundant", source="NCIT:C8506"} ! malignant tumor of meninges property_value: exactMatch DOID:6086 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334596 property_value: exactMatch NCIT:C8506 [Term] id: MONDO:0003766 name: thalamic cancer def: "A cancer involving a dorsal plus ventral thalamus." [MONDO:patterns/cancer] synonym: "cancer of dorsal plus ventral thalamus" EXACT [MONDO:patterns/cancer] synonym: "dorsal plus ventral thalamus cancer" EXACT [MONDO:patterns/location] synonym: "malignant dorsal plus ventral thalamus neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of dorsal plus ventral thalamus" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of thalamus" EXACT [DOID:6098, NCIT:C4576] synonym: "malignant neoplasm of the thalamus" EXACT [NCIT:C4576] synonym: "malignant thalamic neoplasm" EXACT [NCIT:C4576] synonym: "malignant thalamic neoplasms" EXACT [NCIT:C4576] synonym: "malignant thalamic tumor" EXACT [NCIT:C4576] synonym: "malignant thalamic tumors" EXACT [NCIT:C4576] synonym: "malignant thalamic tumour" EXACT OMO:0003005 [] synonym: "malignant thalamic tumours" EXACT OMO:0003005 [] synonym: "malignant thalamus neoplasm" EXACT [NCIT:C4576] synonym: "malignant thalamus neoplasms" EXACT [NCIT:C4576] synonym: "malignant thalamus tumor" EXACT [NCIT:C4576] synonym: "malignant thalamus tumors" EXACT [NCIT:C4576] synonym: "malignant thalamus tumour" EXACT OMO:0003005 [] synonym: "malignant thalamus tumours" EXACT OMO:0003005 [] synonym: "malignant tumor of thalamus" EXACT [DOID:6098, NCIT:C4576] synonym: "malignant tumor of the thalamus" EXACT [NCIT:C4576] synonym: "malignant tumour of thalamus" EXACT OMO:0003005 [] synonym: "malignant tumour of the thalamus" EXACT OMO:0003005 [] synonym: "thalamic neoplasm" RELATED [DOID:6098] synonym: "tumor of thalamus" EXACT [DOID:6098, NCIT:C6221] synonym: "tumour of thalamus" EXACT OMO:0003005 [] xref: DOID:6098 {source="MONDO:equivalentTo"} xref: NCIT:C4576 {source="MONDO:equivalentTo", source="DOID:6098"} xref: SCTID:188287005 {source="MONDO:equivalentTo", source="DOID:6098"} xref: UMLS:C0346902 {source="MONDO:equivalentTo", source="NCIT:C4576", source="DOID:6098"} is_a: MONDO:0002786 {source="DOID:6098", source="MONDO:Redundant", source="NCIT:C4576"} ! diencephalic cancer is_a: MONDO:0003081 ! thalamic disorder property_value: exactMatch DOID:6098 property_value: exactMatch http://identifiers.org/snomedct/188287005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346902 property_value: exactMatch NCIT:C4576 [Term] id: MONDO:0003778 name: inborn error of immunity def: "A disorder in which the immune system is unable to mount an adequate immune response." [NCIT:P378] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:101997"} synonym: "antibody deficiency syndrome" RELATED [MESH:D007153] synonym: "antibody deficiency syndromes" RELATED [MESH:D007153] synonym: "deficiency syndrome, antibody" RELATED [MESH:D007153] synonym: "deficiency syndrome, immunologic" RELATED [MESH:D007153] synonym: "deficiency syndrome, immunological" RELATED [MESH:D007153] synonym: "deficiency syndromes, antibody" RELATED [MESH:D007153] synonym: "deficiency syndromes, immunologic" RELATED [MESH:D007153] synonym: "deficiency syndromes, immunological" RELATED [MESH:D007153] synonym: "hypoimmunity" EXACT [DOID:612] synonym: "IEI" EXACT ABBREVIATION [https://github.com/monarch-initiative/mondo/issues/4115] synonym: "immune deficiency disorder" RELATED [DOID:612] synonym: "immunodeficiency syndrome" RELATED [DOID:612, NCIT:C3131] synonym: "immunologic deficiency syndrome" RELATED [MESH:D007153] synonym: "immunological deficiency syndrome" RELATED [MESH:D007153] synonym: "immunological deficiency syndromes" RELATED [MESH:D007153] synonym: "inborn errors of immunity" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "primary immunodeficiency" RELATED [Orphanet:101997] synonym: "primary immunodeficiency disease" EXACT [https://github.com/monarch-initiative/mondo/issues/4115] synonym: "syndrome, antibody deficiency" RELATED [MESH:D007153] synonym: "syndrome, immunologic deficiency" RELATED [MESH:D007153] synonym: "syndrome, immunological deficiency" RELATED [MESH:D007153] synonym: "syndromes, antibody deficiency" RELATED [MESH:D007153] synonym: "syndromes, immunologic deficiency" RELATED [MESH:D007153] synonym: "syndromes, immunological deficiency" RELATED [MESH:D007153] xref: DOID:612 {source="MONDO:equivalentTo"} xref: ICD9:279.3 {source="DOID:612", source="MONDO:directSiblingOf"} xref: MESH:D007153 {source="DOID:612", source="MONDO:equivalentTo"} xref: NCIT:C3131 {source="DOID:612", source="MONDO:directSiblingOf"} xref: Orphanet:101997 {source="MONDO:equivalentTo"} xref: SCTID:234532001 {source="DOID:612", source="MONDO:directSiblingOf"} xref: SCTID:58606001 {source="MONDO:equivalentTo"} xref: UMLS:C0021051 {source="DOID:612", source="MONDO:equivalentTo"} xref: UMLS:C0398686 {source="MONDO:equivalentTo", source="Orphanet:101997", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0009453 {source="https://github.com/monarch-initiative/mondo/issues/1143"} ! immune deficiency disease property_value: exactMatch DOID:612 property_value: exactMatch http://identifiers.org/mesh/D007153 property_value: exactMatch http://identifiers.org/snomedct/58606001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0021051 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398686 property_value: exactMatch Orphanet:101997 property_value: excluded_subClassOf MONDO:0005046 {source="DOID:612", source="MESH:D007153"} property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0003780 name: T-cell immunodeficiency def: "A broad classification of disorders that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective." [NCIT:C27145] synonym: "T lymphocyte deficiency" RELATED [DOID:613] synonym: "T-cell immunodeficiency" EXACT [DOID:613, NCIT:C27145] synonym: "T-lymphocyte deficiency (finding)" EXACT [DOID:613] synonym: "T-lymphocyte immunodeficiency" EXACT [DOID:613] xref: DOID:613 {source="MONDO:equivalentObsolete"} xref: NCIT:C27145 {source="DOID:613", source="NCIT:C27145", source="MONDO:equivalentTo"} xref: SCTID:402792003 {source="DOID:613", source="MONDO:equivalentTo"} xref: UMLS:C1274233 {source="DOID:613", source="NCIT:C27145", source="MONDO:equivalentTo"} is_a: MONDO:0021094 {source="NCIT:C27145"} ! immunodeficiency disease property_value: exactMatch http://identifiers.org/snomedct/402792003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1274233 property_value: exactMatch NCIT:C27145 [Term] id: MONDO:0003783 name: lymphopenia def: "Reduction in the number of lymphocytes." [MESH:D008231] synonym: "lymphocytopenia" EXACT [DOID:614] synonym: "lymphopenia" EXACT [MONDO:ambiguous] synonym: "lymphopenia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:614 {source="MONDO:equivalentTo"} xref: HP:0001888 {source="MONDO:otherHierarchy"} xref: ICD10CM:D72.810 {source="DOID:614", source="MONDO:equivalentTo"} xref: ICD9:288.51 {source="DOID:614", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:288.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D008231 {source="DOID:614", source="MONDO:equivalentTo"} xref: SCTID:48813009 {source="DOID:614", source="MONDO:equivalentTo"} xref: UMLS:C0024312 {source="DOID:614", source="MONDO:equivalentTo"} is_a: MONDO:0004805 ! leukocyte disorder property_value: exactMatch DOID:614 property_value: exactMatch http://identifiers.org/mesh/D008231 property_value: exactMatch http://identifiers.org/snomedct/48813009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024312 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D72.810 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000589 "lymphopenia (disease)" xsd:string [Term] id: MONDO:0003789 name: hereditary papillary renal cell carcinoma def: "A familial carcinoma inherited in an autosomal dominant trait. It is characterized by the development of multiple, bilateral papillary renal cell carcinomas. The carcinomas range from microscopic lesions to clinically symptomatic tumors. It is associated with activating mutations of the MET oncogene." [NCIT:C9222] synonym: "familial renal papillary carcinoma" EXACT [NCIT:C9222] synonym: "hereditary kidney papillary carcinoma" EXACT [NCIT:C9222] synonym: "hereditary papillary carcinoma of kidney" EXACT [NCIT:C9222] synonym: "hereditary papillary carcinoma of the kidney" EXACT [NCIT:C9222] synonym: "hereditary papillary renal carcinoma" EXACT [DOID:6163, NCIT:C9222] synonym: "hereditary papillary renal cell cancer" EXACT [NCIT:C9222] synonym: "hereditary papillary renal cell carcinoma" EXACT [MONDO:patterns/hereditary, NCIT:C9222] synonym: "renal cell carcinoma, papillary" EXACT [OMIM:605074, OMIM:genemap2] synonym: "renal cell carcinoma, papillary, 1, familial and somatic" EXACT [OMIM:605074, OMIM:genemap2] xref: DOID:6163 {source="MONDO:equivalentTo"} xref: NCIT:C9222 {source="MONDO:equivalentTo", source="DOID:6163"} xref: OMIM:605074 {source="MONDO:equivalentTo"} xref: Orphanet:47044 {source="MONDO:equivalentTo"} xref: SCTID:715561008 {source="MONDO:equivalentTo"} xref: UMLS:C0879257 {source="NCIT:C9222", source="MONDO:equivalentTo", source="DOID:6163"} is_a: EFO:0000640 {source="MONDO:Redundant", source="NCIT:C9222"} ! papillary renal cell carcinoma is_a: MONDO:0003008 {source="DOID:6163", source="MONDO:Redundant", source="NCIT:C9222"} ! hereditary renal cell carcinoma intersection_of: EFO:0000640 ! papillary renal cell carcinoma intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch DOID:6163 property_value: exactMatch http://identifiers.org/snomedct/715561008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0879257 property_value: exactMatch https://omim.org/entry/605074 property_value: exactMatch NCIT:C9222 property_value: exactMatch Orphanet:47044 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0003805 name: malignant pericardial mesothelioma def: "A rare neoplasm of mesothelial origin that arises from the pericardium." [NCIT:P378] synonym: "malignant mesothelioma (disease) of pericardium" EXACT [] synonym: "malignant mesothelioma of pericardium" EXACT [DOID:6201, NCIT:C7631] synonym: "malignant mesothelioma of the pericardium" EXACT [NCIT:C7631] synonym: "malignant pericardial mesothelioma" EXACT [DOID:6201, NCIT:C7631] synonym: "pericardial malignant mesothelioma" EXACT [NCIT:C7631] synonym: "pericardial mesothelioma" RELATED [MONDO:ambiguous] synonym: "pericardium malignant mesothelioma (disease)" EXACT [MONDO:patterns/location] synonym: "pericardium mesothelioma" EXACT [MONDO:patterns/location] xref: DOID:6201 {source="MONDO:equivalentTo"} xref: HP:0100004 {source="MONDO:otherHierarchy"} xref: NCIT:C7631 {source="DOID:6201", source="MONDO:equivalentTo"} xref: SCTID:109383000 {source="DOID:6201", source="MONDO:equivalentTo"} xref: UMLS:C0346110 {source="DOID:6201", source="NCIT:C7631", source="MONDO:equivalentTo"} xref: UMLS:C1335381 {source="DOID:6201", source="MONDO:equivalentTo"} is_a: EFO:1000355 {source="DOID:6201", source="MONDO:Redundant", source="NCIT:C7631"} ! Malignant Mesothelioma is_a: MONDO:0001322 {source="DOID:6201", source="MONDO:Redundant", source="NCIT:C7631"} ! pericardium cancer property_value: exactMatch DOID:6201 property_value: exactMatch http://identifiers.org/snomedct/109383000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346110 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335381 property_value: exactMatch NCIT:C7631 [Term] id: MONDO:0003812 name: ovarian endometrial cancer def: "A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells." [NCIT:P378] synonym: "endometrioid neoplasm of ovary" EXACT [DOID:6212, NCIT:C6257] synonym: "endometrioid tumor of ovary" EXACT [MONDO:design_pattern] synonym: "endometrioid tumour of ovary" EXACT OMO:0003005 [] synonym: "malignant ovarian endometrioid tumor" EXACT [DOID:6212, NCIT:C40051] synonym: "malignant ovarian endometrioid tumour" EXACT OMO:0003005 [] synonym: "ovarian endometrioid neoplasm" EXACT [DOID:6212] synonym: "ovary endometrioid tumor" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "ovary endometrioid tumour" EXACT OMO:0003005 [] synonym: "ovary female reproductive endometrioid cancer" EXACT [MONDO:patterns/location] xref: DOID:6212 {source="MONDO:equivalentTo"} xref: NCIT:C40051 {source="DOID:6212", source="MONDO:equivalentTo"} xref: UMLS:C1518231 {source="DOID:6212", source="MONDO:equivalentTo", source="NCIT:C40051"} is_a: MONDO:0002480 {source="DOID:6212", source="MONDO:Redundant", source="NCIT:C40051/inferred"} ! endometrioid tumor is_a: MONDO:0018364 {source="MONDO:Redundant", source="NCIT:C40051"} ! malignant epithelial tumor of ovary property_value: exactMatch DOID:6212 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518231 property_value: exactMatch NCIT:C40051 [Term] id: MONDO:0003816 name: articular cartilage disorder def: "A disease involving the articular cartilage of joint." [https://orcid.org/0000-0002-6601-2165] synonym: "articular cartilage disorder" EXACT [] synonym: "articular cartilage disorder involving ankle and foot" NARROW [DOID:6227, ICD9CM:718.07] synonym: "articular cartilage disorder involving forearm" NARROW [DOID:6227, ICD9CM:718.03] synonym: "articular cartilage disorder involving hand" NARROW [DOID:6227, ICD9CM:718.04] synonym: "articular cartilage disorder involving multiple sites" NARROW [DOID:6227, ICD9CM:718.09] synonym: "articular cartilage disorder involving pelvic region and thigh" NARROW [DOID:6227, ICD9CM:718.05] synonym: "articular cartilage disorder involving shoulder region" NARROW [DOID:6227, ICD9CM:718.01] synonym: "articular cartilage disorder involving upper arm" NARROW [DOID:6227, ICD9CM:718.02] synonym: "articular cartilage disorder of ankle and/or foot" NARROW [DOID:6227] synonym: "articular cartilage disorder of forearm" NARROW [DOID:6227] synonym: "articular cartilage disorder of hand" NARROW [DOID:6227] synonym: "articular cartilage disorder of multiple sites" NARROW [DOID:6227] synonym: "articular cartilage disorder of shoulder region" NARROW [DOID:6227] synonym: "articular cartilage disorder of the pelvic region and thigh" NARROW [DOID:6227] synonym: "articular cartilage disorder of upper arm" NARROW [DOID:6227] synonym: "articular cartilage of joint disease" EXACT [MONDO:patterns/location] synonym: "articular cartilage of joint disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "disease of articular cartilage of joint" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of articular cartilage of joint" EXACT [] synonym: "disorder of articular cartilage" RELATED [] synonym: "disorder of articular cartilage of joint" EXACT [MONDO:patterns/location_top] xref: DOID:6227 {source="MONDO:equivalentTo"} xref: ICD9:718.0 {source="DOID:6227"} xref: ICD9:718.00 {source="DOID:6227"} xref: ICD9:718.02 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:53417006 {source="DOID:6227", source="MONDO:equivalentTo"} xref: UMLS:C0158073 {source="DOID:6227", source="MONDO:equivalentTo"} is_a: EFO:1000999 {source="DOID:6227", source="MONDO:Redundant"} ! joint disease property_value: exactMatch DOID:6227 property_value: exactMatch http://identifiers.org/snomedct/53417006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0158073 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0003827 name: transient hypogammaglobulinemia def: "A broad classification for humoral immunodeficiencies. These disorders may be caused by inadequate activation of progenitor B cells, defective class-switching or the effects of medications. Despite the potential for increased susceptibility to infection, these disorders are self-limited with eventual normalization of serum antibody levels." [NCIT:P378] xref: DOID:625 {source="MONDO:equivalentTo"} xref: NCIT:C27319 {source="DOID:625", source="MONDO:equivalentTo"} xref: UMLS:C0859960 {source="DOID:625", source="MONDO:equivalentTo", source="NCIT:C27319"} is_a: MONDO:0016463 {source="NCIT:C27319"} ! syndromic agammaglobulinemia property_value: exactMatch DOID:625 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0859960 property_value: exactMatch NCIT:C27319 [Term] id: MONDO:0003832 name: complement deficiency def: "A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited." [MONDO:nv, PMID:16026838, PMID:20930072] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:459345"} synonym: "complement activation disease" EXACT [MONDO:design_pattern] synonym: "complement deficiency" EXACT [DOID:626, NCIT:C4691] synonym: "complement deficiency disease" EXACT [DOID:626] synonym: "disorder of complement activation" EXACT [MONDO:patterns/basis_in_disruption_of_process] synonym: "immunodeficiency due to a complement cascade component deficiency" EXACT [MONDO:0018726] xref: DOID:626 {source="MONDO:equivalentTo"} xref: ICD9:279.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4691 {source="DOID:626", source="MONDO:equivalentTo"} xref: Orphanet:459345 {source="MONDO:equivalentTo"} xref: SCTID:24743004 {source="DOID:626", source="MONDO:equivalentTo"} xref: UMLS:C0272242 {source="NCIT:C4691", source="DOID:626", source="MONDO:equivalentTo"} is_a: MONDO:0003778 {source="DOID:626", source="MONDO:indirect"} ! inborn error of immunity is_a: MONDO:0021094 {source="NCIT:C4691"} ! immunodeficiency disease property_value: exactMatch DOID:626 property_value: exactMatch http://identifiers.org/snomedct/24743004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272242 property_value: exactMatch NCIT:C4691 property_value: exactMatch Orphanet:459345 [Term] id: MONDO:0003837 name: TSH producing pituitary tumor def: "An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces thyrotropin." [NCIT:C7915] synonym: "thyroid stimulating hormone producing neoplasm of pituitary" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone producing neoplasm of pituitary gland" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone producing neoplasm of the pituitary" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone producing neoplasm of the pituitary gland" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone producing pituitary gland neoplasm" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone producing pituitary gland tumor" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone producing pituitary gland tumour" EXACT OMO:0003005 [] synonym: "thyroid stimulating hormone producing pituitary neoplasm" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone producing pituitary tumor" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone producing pituitary tumour" EXACT OMO:0003005 [] synonym: "thyroid stimulating hormone producing tumor" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone producing tumor of pituitary" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone producing tumor of pituitary gland" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone producing tumor of the pituitary" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone producing tumor of the pituitary gland" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone producing tumour" EXACT OMO:0003005 [] synonym: "thyroid stimulating hormone producing tumour of pituitary" EXACT OMO:0003005 [] synonym: "thyroid stimulating hormone producing tumour of pituitary gland" EXACT OMO:0003005 [] synonym: "thyroid stimulating hormone producing tumour of the pituitary" EXACT OMO:0003005 [] synonym: "thyroid stimulating hormone producing tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "thyroid stimulating hormone secreting neoplasm of pituitary" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone secreting neoplasm of pituitary gland" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone secreting neoplasm of the pituitary" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone secreting neoplasm of the pituitary gland" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone secreting pituitary gland neoplasm" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone secreting pituitary gland tumor" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone secreting pituitary gland tumour" EXACT OMO:0003005 [] synonym: "thyroid stimulating hormone secreting pituitary neoplasm" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone secreting pituitary tumor" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone secreting pituitary tumour" EXACT OMO:0003005 [] synonym: "thyroid stimulating hormone secreting tumor of pituitary" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone secreting tumor of pituitary gland" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone secreting tumor of the pituitary" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone secreting tumor of the pituitary gland" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone secreting tumour of pituitary" EXACT OMO:0003005 [] synonym: "thyroid stimulating hormone secreting tumour of pituitary gland" EXACT OMO:0003005 [] synonym: "thyroid stimulating hormone secreting tumour of the pituitary" EXACT OMO:0003005 [] synonym: "thyroid stimulating hormone secreting tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "thyrotroph adenoma" NARROW [] synonym: "thyrotropin producing pituitary gland neoplasm" EXACT [NCIT:C7915] synonym: "thyrotropin-secreting pituitary adenoma" RELATED [] synonym: "TSH producing neoplasm of pituitary" EXACT [NCIT:C7915] synonym: "TSH producing neoplasm of pituitary gland" EXACT [NCIT:C7915] synonym: "TSH producing neoplasm of the pituitary" EXACT [NCIT:C7915] synonym: "TSH producing neoplasm of the pituitary gland" EXACT [NCIT:C7915] synonym: "TSH producing pituitary gland neoplasm" EXACT [NCIT:C7915] synonym: "TSH producing pituitary gland tumor" EXACT [NCIT:C7915] synonym: "TSH producing pituitary gland tumour" EXACT OMO:0003005 [] synonym: "TSH producing pituitary neoplasm" EXACT [NCIT:C7915] synonym: "TSH producing pituitary tumor" EXACT [NCIT:C7915] synonym: "TSH producing tumor of pituitary" EXACT [NCIT:C7915] synonym: "TSH producing tumor of pituitary gland" EXACT [NCIT:C7915] synonym: "TSH producing tumor of the pituitary" EXACT [NCIT:C7915] synonym: "TSH producing tumor of the pituitary gland" EXACT [NCIT:C7915] synonym: "TSH producing tumour of pituitary" EXACT OMO:0003005 [] synonym: "TSH producing tumour of pituitary gland" EXACT OMO:0003005 [] synonym: "TSH producing tumour of the pituitary" EXACT OMO:0003005 [] synonym: "TSH producing tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "TSH secreting adenoma of the pituitary" NARROW [DOID:6275, NCIT:C8011] synonym: "TSH secreting neoplasm of pituitary" EXACT [NCIT:C7915] synonym: "TSH secreting neoplasm of pituitary gland" EXACT [NCIT:C7915] synonym: "TSH secreting neoplasm of the pituitary" EXACT [NCIT:C7915] synonym: "TSH secreting neoplasm of the pituitary gland" EXACT [NCIT:C7915] synonym: "TSH secreting pituitary gland neoplasm" EXACT [NCIT:C7915] synonym: "TSH secreting pituitary gland tumor" EXACT [NCIT:C7915] synonym: "TSH secreting pituitary gland tumour" EXACT OMO:0003005 [] synonym: "TSH secreting pituitary neoplasm" EXACT [NCIT:C7915] synonym: "TSH secreting pituitary tumor" EXACT [NCIT:C7915] synonym: "TSH secreting pituitary tumour" EXACT OMO:0003005 [] synonym: "TSH secreting tumor of pituitary" EXACT [DOID:6275, NCIT:C7915] synonym: "TSH secreting tumor of pituitary gland" EXACT [NCIT:C7915] synonym: "TSH secreting tumor of the pituitary" EXACT [NCIT:C7915] synonym: "TSH secreting tumor of the pituitary gland" EXACT [NCIT:C7915] synonym: "TSH secreting tumour of pituitary" EXACT OMO:0003005 [] synonym: "TSH secreting tumour of pituitary gland" EXACT OMO:0003005 [] synonym: "TSH secreting tumour of the pituitary" EXACT OMO:0003005 [] synonym: "TSH secreting tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "TSH-oma" RELATED [] synonym: "TSH-producing pituitary gland neoplasm" EXACT [NCIT:C7915] synonym: "TSH-producing pituitary gland tumor" EXACT [NCIT:C7915] synonym: "TSH-producing pituitary gland tumour" EXACT OMO:0003005 [] xref: DOID:6275 {source="MONDO:equivalentTo"} xref: NCIT:C7915 {source="MONDO:equivalentTo"} xref: SCTID:254959007 {source="MONDO:equivalentTo", source="DOID:6275"} xref: UMLS:C2362538 {source="MONDO:equivalentTo", source="NCIT:C7915"} is_a: MONDO:0003429 {source="DOID:6275"} ! functioning pituitary gland adenoma property_value: exactMatch DOID:6275 property_value: exactMatch http://identifiers.org/snomedct/254959007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2362538 property_value: exactMatch NCIT:C7915 [Term] id: MONDO:0003865 name: acral lentiginous melanoma def: "A form of melanoma occurring most often on the plantar, palmar, subungual, and periungual skin. It presents as a pigmented macular lesion with irregular borders. Morphologically, it consists of atypical spindled and dendritic melanocytes. The epidermis is often hyperplastic and there is pagetoid infiltration of the epidermis by anaplastic cells." [NCIT:C4022] synonym: "acral lentiginous malignant melanoma" EXACT [NCIT:C4022] synonym: "acral lentiginous malignant melanoma of skin" RELATED [GARD:0009570] synonym: "acral lentiginous melanoma" EXACT [MONDO:ambiguous] synonym: "acral lentiginous melanoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "acral lentiginous melanoma, malignant" EXACT [DOID:6367] synonym: "acral lentiginous melanoma, malignant (morphologic abnormality)" EXACT [DOID:6367] synonym: "acral melanoma" RELATED [ONCOTREE:ACRM] synonym: "ALM" RELATED ABBREVIATION [GARD:0009570] synonym: "malignant acral lentiginous melanoma" EXACT [DOID:6367] synonym: "palmar/plantar melanoma" RELATED [GARD:0009570] synonym: "subungual melanoma" RELATED [GARD:0009570] xref: DOID:6367 {source="MONDO:equivalentTo"} xref: HP:0012060 {source="MONDO:otherHierarchy"} xref: ICDO:8744/3 {source="NCIT:C4022"} xref: NCIT:C4022 {source="MONDO:equivalentTo"} xref: ONCOTREE:ACRM {source="MONDO:equivalentTo"} xref: SCTID:254732008 {source="MONDO:equivalentTo"} xref: UMLS:C0346037 {source="NCIT:C4022", source="MONDO:equivalentTo"} is_a: EFO:0000389 {source="DOID:6367", source="NCIT:C4022"} ! cutaneous melanoma property_value: exactMatch DOID:6367 property_value: exactMatch http://identifiers.org/snomedct/254732008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346037 property_value: exactMatch NCIT:C4022 property_value: IAO:0000589 "acral lentiginous melanoma (disease)" xsd:string [Term] id: MONDO:0003869 name: childhood brain stem glioma def: "An abnormal growth of the cells that comprise the tissues of the brainstem. While the tumor may be histologically benign, it can produce great morbidity due to its location. It presents most commonly in the first two decades of life." [NCIT:C9042] subset: gard_rare {source="GARD:0009306"} synonym: "brain stem glioma" BROAD [NCIT:C9042] synonym: "brain stem glioma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "childhood brain stem glioma" EXACT [NCIT:C9042] synonym: "childhood brainstem glioma" EXACT [NCIT:C9042] synonym: "childhood glioma of brain stem" EXACT [NCIT:C9042] synonym: "childhood glioma of brainstem" EXACT [NCIT:C9042] synonym: "childhood glioma of the brain stem" EXACT [NCIT:C9042] synonym: "childhood glioma of the brainstem" EXACT [NCIT:C9042] synonym: "paediatric brain stem glioma" EXACT OMO:0003005 [] synonym: "paediatric brainstem glioma" EXACT OMO:0003005 [] synonym: "paediatric glioma of brain stem" EXACT OMO:0003005 [] synonym: "paediatric glioma of brainstem" EXACT OMO:0003005 [] synonym: "paediatric glioma of the brain stem" EXACT OMO:0003005 [] synonym: "paediatric glioma of the brainstem" EXACT OMO:0003005 [] synonym: "pediatric brain stem glioma" EXACT [MONDO:patterns/childhood, NCIT:C9042] synonym: "pediatric brainstem glioma" EXACT [NCIT:C9042] synonym: "pediatric glioma of brain stem" EXACT [NCIT:C9042] synonym: "pediatric glioma of brainstem" EXACT [NCIT:C9042] synonym: "pediatric glioma of the brain stem" EXACT [NCIT:C9042] synonym: "pediatric glioma of the brainstem" EXACT [DOID:6383, NCIT:C9042] xref: DOID:6383 {source="MONDO:equivalentTo"} xref: NCIT:C9042 {source="MONDO:equivalentTo", source="DOID:6383"} xref: UMLS:C0278600 {source="MONDO:equivalentTo", source="DOID:6383", source="NCIT:C9042"} is_a: EFO:1000142 {source="MONDO:Redundant", source="NCIT:C9042"} ! Brain Stem Glioma is_a: MONDO:0002914 {source="DOID:6383", source="MONDO:Redundant", source="NCIT:C9042"} ! childhood brain stem neoplasm property_value: exactMatch DOID:6383 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278600 property_value: exactMatch NCIT:C9042 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9306/childhood-brain-stem-glioma xsd:anyURI {source="GARD:0009306"} [Term] id: MONDO:0003890 name: infiltrating bladder urothelial carcinoma def: "An invasive transitional cell carcinoma that arises from the urinary bladder urothelium." [NCIT:C27885] synonym: "infiltrating bladder urothelial carcinoma" EXACT [NCIT:C27885] synonym: "infiltrating transitional cell carcinoma of the urinary bladder" EXACT [NCIT:C27885] synonym: "invasive bladder transitional cell carcinoma" EXACT [NCIT:C27885] synonym: "invasive bladder urothelial carcinoma" EXACT [DOID:6477, NCIT:C27885] synonym: "invasive transitional cell carcinoma of the urinary bladder" EXACT [NCIT:C27885] xref: DOID:6477 {source="MONDO:equivalentTo"} xref: NCIT:C27885 {source="DOID:6477", source="MONDO:equivalentTo", source="NCIT:C27885"} xref: UMLS:C1334281 {source="DOID:6477", source="MONDO:equivalentTo", source="NCIT:C27885"} is_a: EFO:0006544 {source="DOID:6477", source="NCIT:C27885"} ! bladder transitional cell carcinoma is_a: MONDO:0040678 ! infiltrating urothelial carcinoma property_value: exactMatch DOID:6477 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334281 property_value: exactMatch NCIT:C27885 [Term] id: MONDO:0003892 name: acinar lung adenocarcinoma def: "A morphologic variant of lung adenocarcinoma characterized by the presence of acinar structures composed of columnar or cuboidal cells. (NCI05)" [NCIT:C5649] synonym: "acinar adenocarcinoma of lung" EXACT [NCIT:C5649] synonym: "acinar adenocarcinoma of the lung" EXACT [DOID:6482, NCIT:C5649] synonym: "acinar lung adenocarcinoma" EXACT [NCIT:C5649] synonym: "lung acinar adenocarcinoma" RELATED [DOID:6482] xref: DOID:6482 {source="MONDO:equivalentTo"} xref: NCIT:C5649 {source="MONDO:equivalentTo", source="DOID:6482"} xref: UMLS:C1332137 {source="MONDO:equivalentTo", source="DOID:6482", source="NCIT:C5649"} is_a: EFO:0000571 {source="DOID:6482", source="NCIT:C5649"} ! lung adenocarcinoma property_value: exactMatch DOID:6482 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332137 property_value: exactMatch NCIT:C5649 [Term] id: MONDO:0003901 name: cerebellar hemangioblastoma def: "A histologically benign tumor, usually cystic with a vascular mural nodule, that is most often found in the cerebellum though it has been reported at other sites within the neuraxis. It is associated with von Hippel-Lindau disease (VHL gene located on chr 3p25-26)." [NCIT:C5146] synonym: "angioblastoma of cerebellum" EXACT [NCIT:C5146] synonym: "angioblastoma of the cerebellum" EXACT [NCIT:C5146] synonym: "cerebellar angioblastoma" EXACT [NCIT:C5146] synonym: "cerebellar capillary hemangioblastoma" EXACT [NCIT:C5146] synonym: "cerebellar hemangioblastoma" EXACT [NCIT:C5146] synonym: "cerebellum hemangioblastoma" EXACT [MONDO:patterns/location] synonym: "hemangioblastoma of cerebellum" EXACT [DOID:6500, NCIT:C5146] synonym: "hemangioblastoma of the cerebellum" EXACT [NCIT:C5146] xref: DOID:6500 {source="MONDO:equivalentTo"} xref: NCIT:C5146 {source="DOID:6500", source="MONDO:equivalentTo"} xref: UMLS:C1332900 {source="DOID:6500", source="MONDO:equivalentTo", source="NCIT:C5146"} is_a: MONDO:0002328 ! intracranial hemangioma is_a: MONDO:0016748 {source="DOID:6500", source="MONDO:Redundant", source="NCIT:C5146/inferred"} ! hemangioblastoma is_a: MONDO:0021499 ! benign neoplasm of cerebellum property_value: exactMatch DOID:6500 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332900 property_value: exactMatch NCIT:C5146 [Term] id: MONDO:0003915 name: cortical thymoma def: "A thymic epithelial neoplasm characterized by the presence of neoplastic large, polygonal epithelial cells with large vesicular nuclei and prominent nucleoli. The neoplastic cells are arranged around perivascular spaces and along septa. Immature T-lymphocytes are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It is a tumor of moderate malignancy. The majority of cases occur in the anterior mediastinum as Masaoka stage I, stage II, or stage III tumors. Metastatic, stage IV tumors occur less frequently." [NCIT:P378] synonym: "cortical thymoma" EXACT [NCIT:C6888] synonym: "polygonal cell thymoma" EXACT [DOID:6530, NCIT:C6888] synonym: "thymoma type B2" EXACT [NCIT:C6888] synonym: "thymoma, cortical" EXACT [DOID:6530] xref: DOID:6530 {source="MONDO:equivalentTo"} xref: ICDO:8584/1 {source="NCIT:C6888"} xref: NCIT:C6888 {source="MONDO:equivalentTo", source="DOID:6530"} xref: UMLS:C1266095 {source="MONDO:equivalentTo", source="NCIT:C6888", source="DOID:6530"} is_a: MONDO:0016974 {source="DOID:6530", source="NCIT:C6888"} ! thymoma type B property_value: exactMatch DOID:6530 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266095 property_value: exactMatch NCIT:C6888 [Term] id: MONDO:0003916 name: overnutrition def: "An imbalanced nutritional status resulting from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as obesity." [MESH:D044343] xref: DOID:654 {source="MONDO:equivalentTo"} xref: ICD9:278.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D044343 {source="DOID:654", source="MONDO:equivalentTo"} xref: SCTID:302872003 {source="DOID:654", source="MONDO:equivalentTo"} xref: UMLS:C1257763 {source="DOID:654", source="MONDO:equivalentTo"} is_a: EFO:0001069 {source="DOID:654", source="MESH:D044343"} ! nutritional disorder property_value: exactMatch DOID:654 property_value: exactMatch http://identifiers.org/mesh/D044343 property_value: exactMatch http://identifiers.org/snomedct/302872003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1257763 [Term] id: MONDO:0003922 name: ovarian clear cell malignant adenofibroma def: "A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells with clear cytoplasm in a fibrotic stroma." [NCIT:C40079] synonym: "ovarian clear cell adenocarcinofibroma" EXACT [DOID:6554, NCIT:C40079] synonym: "ovarian clear cell malignant adenofibroma" EXACT [NCIT:C40079] xref: DOID:6554 {source="MONDO:equivalentTo"} xref: ICDO:8313/3 {source="NCIT:C40079"} xref: NCIT:C40079 {source="DOID:6554", source="MONDO:equivalentTo"} xref: UMLS:C2075522 {source="MONDO:equivalentTo", source="NCIT:C40079"} is_a: MONDO:0000548 {source="NCIT:C40079"} ! ovarian clear cell cancer property_value: exactMatch DOID:6554 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2075522 property_value: exactMatch NCIT:C40079 [Term] id: MONDO:0003937 name: spondylitis def: "The inflammation of a vertebra." [NCIT:C116779] synonym: "inflammation of vertebra" EXACT [] synonym: "vertebra inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:6590 {source="MONDO:equivalentTo"} xref: ICD9:720.8 {source="DOID:6590"} xref: ICD9:720.89 {source="DOID:6590"} xref: MESH:D013166 {source="MONDO:equivalentTo"} xref: NCIT:C116779 {source="MONDO:equivalentObsolete"} xref: SCTID:84172003 {source="MONDO:equivalentTo"} is_a: EFO:0009903 {source="MONDO:Redundant", source="NCIT:C116779"} ! inflammatory disease is_a: MONDO:0045002 ! vertebral disorder property_value: exactMatch DOID:6590 property_value: exactMatch http://identifiers.org/mesh/D013166 property_value: exactMatch http://identifiers.org/snomedct/84172003 property_value: excluded_subClassOf MONDO:0005095 {source="DOID:6590"} property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0003939 name: muscle tissue disorder def: "A disease involving the muscle tissue." [https://orcid.org/0000-0002-6601-2165] subset: rare_grouping synonym: "disease of muscle organ" EXACT [MONDO:patterns/location_top] synonym: "disease of muscle tissue" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of muscle organ" EXACT [] synonym: "disease or disorder of muscle tissue" EXACT [] synonym: "disorder of muscle organ" EXACT [MONDO:patterns/location_top] synonym: "disorder of muscle tissue" EXACT [MONDO:patterns/location_top] synonym: "muscle organ disease" EXACT [MONDO:patterns/location] synonym: "muscle organ disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "muscle tissue disease" EXACT [MONDO:patterns/location] synonym: "muscle tissue disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "muscular disorder" EXACT [MONDO:0005218] xref: DOID:0080000 {source="EFO:0002970", source="MONDO:equivalentTo"} xref: DOID:66 {source="MONDO:equivalentTo"} xref: EFO:0002970 {source="MONDO:equivalentTo"} xref: ICD10CM:M60-M63 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: MESH:D009135 {source="EFO:0002970", source="MONDO:equivalentTo"} is_a: EFO:0009676 {source="MONDO:cjm"} ! musculoskeletal system disease property_value: exactMatch DOID:0080000 property_value: exactMatch DOID:66 property_value: exactMatch http://identifiers.org/mesh/D009135 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/M60-M63 property_value: excluded_subClassOf MONDO:0005172 {source="EFO:0002970"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5166 xsd:anyURI [Term] id: MONDO:0003947 name: hyper-IgM syndrome def: "A primary immune deficiency disorder characterized by defective CD40 signaling; via B cells affecting class switch recombination (CSR) and somatic hypermutation." [MONDO:cjm, Wikipedia:Hyper_IgM_syndrome] synonym: "hyperimmunoglobulin M syndrome" RELATED [NCIT:C3990] synonym: "immunodeficiency with hyper-IgM" EXACT [MONDO:0000047, NCIT:C84783] xref: DOID:0080544 {source="MONDO:equivalentTo"} xref: ICD9:279.05 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D053306 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: NCIT:C3990 {source="MONDO:equivalentTo"} xref: NCIT:C84783 {source="MONDO:equivalentTo"} xref: OMIMPS:308230 {source="MONDO:equivalentTo"} xref: SCTID:82286005 {source="MONDO:equivalentTo"} xref: UMLS:C0272236 {source="NCIT:C3990", source="MONDO:equivalentTo"} xref: Wikidata:Q1617658 is_a: MONDO:0002468 {source="MONDO:cjm", source="NCIT:C3990"} ! hyperimmunoglobulin syndrome property_value: exactMatch DOID:0080544 property_value: exactMatch http://identifiers.org/mesh/D053306 property_value: exactMatch http://identifiers.org/snomedct/82286005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272236 property_value: exactMatch https://omim.org/phenotypicSeries/PS308230 property_value: exactMatch NCIT:C3990 property_value: exactMatch NCIT:C84783 [Term] id: MONDO:0003978 name: colon small cell neuroendocrine carcinoma def: "An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the colon. It is characterized by the presence of malignant small cells." [NCIT:C6761] synonym: "colon Oat cell carcinoma" EXACT [NCIT:C6761] synonym: "colon small cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C6761] synonym: "colon small cell neuroendocrine cancer" EXACT [NCIT:C6761] synonym: "colon small cell neuroendocrine carcinoma" EXACT [NCIT:C6761] synonym: "colonic Oat cell carcinoma" EXACT [NCIT:C6761] synonym: "colonic small cell carcinoma" EXACT [DOID:6727, NCIT:C6761] synonym: "Oat cell carcinoma of colon" EXACT [NCIT:C6761] synonym: "Oat cell carcinoma of the colon" EXACT [NCIT:C6761] synonym: "Oat cell colon carcinoma" EXACT [NCIT:C6761] synonym: "small cell carcinoma of colon" EXACT [NCIT:C6761] synonym: "small cell carcinoma of the colon" EXACT [NCIT:C6761] synonym: "small cell colon carcinoma" EXACT [NCIT:C6761] xref: DOID:6727 {source="MONDO:equivalentTo"} xref: NCIT:C6761 {source="MONDO:equivalentTo", source="DOID:6727"} xref: UMLS:C1333099 {source="NCIT:C6761", source="MONDO:equivalentTo", source="DOID:6727"} is_a: EFO:0008524 {source="DOID:6727", source="MONDO:Redundant", source="NCIT:C6761/inferred"} ! small cell carcinoma is_a: EFO:1001950 {source="DOID:6727", source="MONDO:Redundant", source="NCIT:C6761"} ! colon carcinoma is_a: MONDO:0002882 {source="MONDO:Redundant", source="NCIT:C6761"} ! colon neuroendocrine neoplasm property_value: exactMatch DOID:6727 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333099 property_value: exactMatch NCIT:C6761 [Term] id: MONDO:0003987 name: lung lymphoma def: "A rare non-Hodgkin or Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis." [NCIT:P378] synonym: "lung lymphoma" EXACT [MONDO:patterns/location] synonym: "lymphoma of lung" EXACT [DOID:6760] synonym: "lymphoma of the lung" EXACT [NCIT:C4794] synonym: "primary lung lymphoma" EXACT [NCIT:C4794] synonym: "pulmonary lymphoma" EXACT [DOID:6760, NCIT:C4794] xref: DOID:6760 {source="MONDO:equivalentTo"} xref: NCIT:C4794 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C0519063 {source="MONDO:relatedTo", source="NCIT:C4794", source="DOID:6760"} xref: UMLS:C1704383 {source="MONDO:equivalentTo"} is_a: EFO:0000574 {source="DOID:6760", source="MONDO:Redundant", source="NCIT:C4794/inferred"} ! lymphoma is_a: MONDO:0008903 {source="DOID:6760", source="NCIT:C4794"} ! lung cancer property_value: exactMatch DOID:6760 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1704383 property_value: exactMatch NCIT:C4794 [Term] id: MONDO:0004001 name: compartment syndrome def: "Elevated pressure in a confined space enclosed by fascia or eschar, which may lead to vascular compromise and subsequent ischemic injury to the tissue within the space." [NCIT:P378] subset: gard_rare {source="GARD:0006141"} synonym: "compartment syndrome" EXACT [DOID:682] synonym: "compartmental syndrome" EXACT [DOID:682] xref: DOID:682 {source="MONDO:equivalentTo"} xref: ICD9:958.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:958.90 {source="DOID:682"} xref: MESH:D003161 {source="MONDO:equivalentTo", source="DOID:682"} xref: NCIT:C118422 {source="MONDO:equivalentTo", source="DOID:682"} xref: SCTID:111245009 {source="MONDO:equivalentTo", source="DOID:682"} xref: SCTID:45781009 {source="MONDO:relatedTo", source="DOID:682"} xref: UMLS:C0009492 {source="NCIT:C118422", source="MONDO:equivalentTo", source="DOID:682"} is_a: MONDO:0002254 {source="NCIT:C118422"} ! syndromic disease relationship: disease_has_feature MONDO:0005053 ! ischemic disease property_value: exactMatch DOID:682 property_value: exactMatch http://identifiers.org/mesh/D003161 property_value: exactMatch http://identifiers.org/snomedct/111245009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009492 property_value: exactMatch NCIT:C118422 property_value: excluded_subClassOf MONDO:0005053 {source="DOID:682"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6141/compartment-syndrome xsd:anyURI {source="GARD:0006141"} [Term] id: MONDO:0004007 name: breast intraductal proliferative lesion def: "A group of non-invasive epithelial proliferations that occur in the ductal system of the breast. The vast majority of cases arise in the terminal ductal lobular units. This category includes atypical ductal hyperplasia, usual ductal hyperplasia, flat epithelial atypia, and ductal carcinoma in situ. There is an increased risk for subsequent development of invasive breast carcinoma." [NCIT:P378] synonym: "DIN" EXACT ABBREVIATION [NCIT:C27942] synonym: "ductal intraepithelial neoplasia" EXACT [NCIT:C27942] synonym: "intraductal proliferative lesion" EXACT [DOID:6839, NCIT:C27942] synonym: "intraductal proliferative lesion of the breast" EXACT [NCIT:C27942] synonym: "mammary intraepithelial neoplasia, ductal type" EXACT [NCIT:C27942] xref: DOID:6839 {source="MONDO:equivalentTo"} xref: NCIT:C27942 {source="MONDO:equivalentTo", source="DOID:6839"} xref: UMLS:C1334631 {source="MONDO:equivalentTo", source="NCIT:C27942", source="DOID:6839"} is_a: MONDO:0002488 {source="DOID:6839", source="NCIT:C27942"} ! intraductal breast neoplasm property_value: exactMatch DOID:6839 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334631 property_value: exactMatch NCIT:C27942 [Term] id: MONDO:0004021 name: mediastinal malignant lymphoma def: "A lymphoma that arises from the mediastinum. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma." [NCIT:P378] synonym: "lymphoma of mediastinum" EXACT [DOID:6868, NCIT:C6633] synonym: "lymphoma of the mediastinum" EXACT [NCIT:C6633] synonym: "mediastinal lymphoma" EXACT [NCIT:C6633] synonym: "mediastinal malignant lymphoma" EXACT [NCIT:C6633] synonym: "mediastinum lymphoma" EXACT [MONDO:patterns/location] synonym: "primary mediastinal lymphoma" EXACT [NCIT:C6633] xref: DOID:6868 {source="MONDO:equivalentTo"} xref: NCIT:C6633 {source="DOID:6868", source="MONDO:equivalentTo"} xref: UMLS:C1334665 {source="DOID:6868", source="MONDO:equivalentTo", source="NCIT:C6633"} is_a: EFO:0000574 {source="DOID:6868", source="MONDO:Redundant", source="NCIT:C6633/inferred"} ! lymphoma is_a: EFO:0007362 {source="DOID:6868", source="NCIT:C6633"} ! mediastinal cancer property_value: exactMatch DOID:6868 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334665 property_value: exactMatch NCIT:C6633 [Term] id: MONDO:0004037 name: retinal edema xref: DOID:6929 {source="MONDO:equivalentTo"} xref: ICD9:362.83 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:6929"} xref: MESH:D010211 {source="DOID:6929", source="MONDO:directSiblingOf"} xref: SCTID:6141006 {source="MONDO:equivalentTo", source="DOID:6929"} is_a: EFO:0003839 {source="DOID:6929"} ! retinopathy property_value: exactMatch DOID:6929 property_value: exactMatch http://identifiers.org/snomedct/6141006 [Term] id: MONDO:0004041 name: urothelial papilloma def: "A rare benign condition, characterized by a papillary growth in the urinary tract with a central fibrovascular core. The latter is lined by normal urothelium." [NCIT:C3842] synonym: "bladder papilloma" EXACT [DOID:6933] synonym: "bladder transitional cell papilloma" RELATED [DOID:6933] synonym: "transitional cell papilloma of bladder" EXACT [DOID:6933] synonym: "uPA" RELATED [ONCOTREE:UPA] synonym: "urothelial papilloma" EXACT [NCIT:C3842] xref: DOID:6933 {source="MONDO:equivalentTo"} xref: ICDO:8120/1 {source="NCIT:C3842"} xref: NCIT:C3842 {source="MONDO:equivalentTo", source="DOID:6933"} xref: ONCOTREE:UPA {source="MONDO:equivalentTo"} is_a: EFO:0006497 {source="NCIT:C3842"} ! transitional cell papilloma is_a: MONDO:0003443 {source="DOID:6933/inferred", source="MONDO:Redundant", source="NCIT:C3842"} ! papillary urothelial neoplasm is_a: MONDO:0003755 {source="NCIT:C3842"} ! urinary tract non-invasive transitional cell neoplasm is_a: MONDO:0004180 {source="DOID:6933/inferred", source="MONDO:Redundant", source="NCIT:C3842"} ! benign urinary system neoplasm property_value: exactMatch DOID:6933 property_value: exactMatch NCIT:C3842 [Term] id: MONDO:0004050 name: telangiectatic osteogenic sarcoma def: "An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of a cystic architecture with blood-filled spaces. The prognosis is similar to that of conventional osteosarcoma." [NCIT:P378] synonym: "malignant bone aneurysm" EXACT [NCIT:C3902] synonym: "telangiectatic osteosarcoma" EXACT [NCIT:C3902] synonym: "telangiectatic osteosarcoma (morphologic abnormality)" EXACT [DOID:6951] synonym: "TEOS" RELATED ABBREVIATION [ONCOTREE:TEOS] xref: DOID:6951 {source="MONDO:equivalentTo"} xref: ICDO:9183/3 {source="NCIT:C3902"} xref: NCIT:C3902 {source="DOID:6951", source="MONDO:equivalentTo"} xref: ONCOTREE:TEOS {source="MONDO:equivalentTo"} xref: UMLS:C0259782 {source="NCIT:C3902", source="DOID:6951", source="MONDO:equivalentTo"} is_a: MONDO:0002629 {source="DOID:6951/inferred", source="NCIT:C3902/inferred"} ! bone osteosarcoma property_value: exactMatch DOID:6951 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0259782 property_value: exactMatch NCIT:C3902 property_value: excluded_subClassOf MONDO:0002631 {source="DOID:6951"} [Term] id: MONDO:0004069 name: inborn mitochondrial metabolism disorder def: "Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes." [MESH:D028361] subset: disease_grouping subset: gard_rare subset: ordo_group_of_disorders {source="Orphanet:68380"} synonym: "mitochondrial disease" BROAD [MONDO:0019055] synonym: "mitochondrial genetic disorders" RELATED [GARD:0007048] synonym: "mitochondrial metabolism disease" RELATED [DOID:700] xref: DOID:700 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: MESH:D028361 {source="DOID:700", source="Orphanet:68380", source="MONDO:equivalentTo", source="Orphanet:68380/e"} xref: Orphanet:68380 {source="MONDO:equivalentTo"} xref: UMLS:CN552492 {source="MONDO:relatedTo", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0015327 {source="Orphanet:68380"} ! developmental anomaly of metabolic origin is_a: MONDO:0019243 {source="Orphanet:68380"} ! inborn disorder of energy metabolism is_a: MONDO:0044970 ! mitochondrial disease property_value: exactMatch DOID:700 property_value: exactMatch http://identifiers.org/mesh/D028361 property_value: exactMatch Orphanet:68380 property_value: relatedMatch http://linkedlifedata.com/resource/umls/id/CN552492 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7048/mitochondrial-genetic-disorders xsd:anyURI {source="GARD:0007048"} [Term] id: MONDO:0004087 name: basaloid large cell lung carcinoma def: "A morphologic variant of large cell lung carcinoma characterized by the presence of a solid nodular or anastomotic trabecular growth pattern, peripheral palisading, and comedo type necrosis." [NCIT:C7266] synonym: "basaloid large cell carcinoma of the lung" RELATED [ONCOTREE:BLCLC] synonym: "basaloid large cell lung carcinoma" EXACT [NCIT:C7266] synonym: "basaloid lung carcinoma" RELATED [DOID:7045] xref: DOID:7045 {source="MONDO:equivalentTo"} xref: NCIT:C7266 {source="MONDO:equivalentTo", source="DOID:7045"} xref: ONCOTREE:BLCLC {source="MONDO:equivalentTo"} xref: UMLS:C1332463 {source="NCIT:C7266", source="MONDO:equivalentTo", source="DOID:7045"} is_a: EFO:0003050 {source="MONDO:Redundant", source="NCIT:C7266", source="ONCOTREE:BLCLC"} ! large cell lung carcinoma is_a: EFO:1000105 {source="MONDO:Redundant", source="NCIT:C7266"} ! Basaloid Carcinoma intersection_of: EFO:0003050 {source="NCIT:C7266"} ! large cell lung carcinoma intersection_of: EFO:1000105 {source="NCIT:C7266"} ! Basaloid Carcinoma property_value: exactMatch DOID:7045 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332463 property_value: exactMatch NCIT:C7266 property_value: excluded_subClassOf MONDO:0005097 {source="DOID:7045"} [Term] id: MONDO:0004093 name: esophageal basaloid carcinoma def: "A rare morphologic variant of esophageal squamous cell carcinoma. Histologically, it is composed of closely packed cells with hyperchromatic nuclei and scant basophilic cytoplasm. It has a similar prognosis to the conventional squamous cell carcinoma of the esophagus. (WHO)" [NCIT:C7032] synonym: "basaloid squamous carcinoma of esophagus" EXACT [DOID:7051, NCIT:C7032] synonym: "basaloid squamous carcinoma of oesophagus" EXACT OMO:0003005 [] synonym: "basaloid squamous carcinoma of the esophagus" RELATED [NCIT:C7032] synonym: "basaloid squamous carcinoma of the oesophagus" RELATED OMO:0003005 [] synonym: "esophageal basaloid cancer" EXACT [NCIT:C7032] synonym: "esophageal basaloid carcinoma" EXACT [NCIT:C7032] synonym: "esophageal basaloid squamous cell carcinoma" RELATED [NCIT:C7032] xref: DOID:7051 {source="MONDO:equivalentTo"} xref: NCIT:C7032 {source="NCIT:C7032", source="MONDO:equivalentTo", source="DOID:7051"} xref: UMLS:C1333443 {source="NCIT:C7032", source="MONDO:equivalentTo", source="DOID:7051"} is_a: EFO:0005922 {source="DOID:7051", source="MONDO:Redundant", source="NCIT:C7032"} ! esophageal squamous cell carcinoma is_a: EFO:1001940 {source="MONDO:Redundant", source="NCIT:C7032"} ! basaloid squamous cell carcinoma intersection_of: EFO:0005922 {source="NCIT:C7032"} ! esophageal squamous cell carcinoma intersection_of: EFO:1001940 {source="NCIT:C7032"} ! basaloid squamous cell carcinoma property_value: exactMatch DOID:7051 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333443 property_value: exactMatch NCIT:C7032 [Term] id: MONDO:0004095 name: B-cell neoplasm def: "A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes." [MESH:D016393] subset: gard_rare {source="GARD:0005877"} synonym: "B-cell lymphocytic neoplasm" EXACT [DOID:707, NCIT:C27907] synonym: "B-cell lymphoma" RELATED [DOID:707] synonym: "B-cell neoplasm" EXACT [NCIT:C27907] synonym: "lymphoma, B-cell" RELATED [GARD:0005877] xref: DOID:707 {source="MONDO:equivalentTo"} xref: MESH:D016393 {source="MONDO:equivalentTo", source="DOID:707"} xref: NCIT:C27907 {source="MONDO:equivalentTo", source="DOID:707"} is_a: EFO:0000574 {source="DOID:707/inferred", source="MESH:D016393/inferred", source="MONDO:Redundant"} ! lymphoma is_a: MONDO:0004805 {source="DOID:707", source="MONDO:Entailed", source="MONDO:Redundant"} ! leukocyte disorder property_value: exactMatch DOID:707 property_value: exactMatch http://identifiers.org/mesh/D016393 property_value: exactMatch NCIT:C27907 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5877/B-cell-lymphoma xsd:anyURI {source="GARD:0005877"} [Term] id: MONDO:0004111 name: refractory hematologic cancer def: "A hematologic malignancy that is resistant to treatment." [NCIT:P378] synonym: "refractory hematologic cancer" EXACT [NCIT:C27357] synonym: "refractory hematologic malignancy" EXACT [NCIT:C27357] xref: DOID:712 {source="MONDO:equivalentTo"} xref: NCIT:C27357 {source="DOID:712", source="MONDO:equivalentTo"} xref: UMLS:C1335724 {source="DOID:712", source="MONDO:equivalentTo", source="NCIT:C27357"} is_a: MONDO:0044881 {source="NCIT:C27357"} ! hematopoietic and lymphoid cell neoplasm property_value: exactMatch DOID:712 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335724 property_value: exactMatch NCIT:C27357 [Term] id: MONDO:0004116 name: esophageal small cell neuroendocrine carcinoma def: "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the esophagus. It is characterized by the presence of malignant small cells." [NCIT:C6762] synonym: "esophageal Oat cell carcinoma" EXACT [NCIT:C6762] synonym: "esophageal small cell carcinoma" EXACT [NCIT:C6762] synonym: "esophageal small cell NEC" EXACT [NCIT:C6762] synonym: "esophageal small cell neuroendocrine carcinoma" EXACT [NCIT:C6762] synonym: "esophagus Oat cell carcinoma" EXACT [NCIT:C6762] synonym: "esophagus small cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C6762] synonym: "Oat cell carcinoma of esophagus" EXACT [DOID:7134, NCIT:C6762] synonym: "Oat cell carcinoma of oesophagus" EXACT OMO:0003005 [] synonym: "Oat cell carcinoma of the esophagus" EXACT [NCIT:C6762] synonym: "Oat cell carcinoma of the oesophagus" EXACT OMO:0003005 [] synonym: "oesophagus Oat cell carcinoma" EXACT OMO:0003005 [] synonym: "oesophagus small cell carcinoma" EXACT OMO:0003005 [] synonym: "small cell carcinoma of esophagus" EXACT [NCIT:C6762] synonym: "small cell carcinoma of oesophagus" EXACT OMO:0003005 [] synonym: "small cell carcinoma of the esophagus" EXACT [NCIT:C6762] synonym: "small cell carcinoma of the oesophagus" EXACT OMO:0003005 [] synonym: "small cell carcinoma, esophagus" EXACT [NCIT:C6762] synonym: "small cell carcinoma, oesophagus" EXACT OMO:0003005 [] xref: DOID:7134 {source="MONDO:equivalentTo"} xref: NCIT:C6762 {source="MONDO:equivalentTo", source="DOID:7134"} xref: UMLS:C1112474 {source="NCIT:C6762", source="MONDO:equivalentTo", source="DOID:7134"} is_a: EFO:0002916 {source="DOID:7134", source="MONDO:Redundant", source="NCIT:C6762/inferred"} ! esophageal carcinoma is_a: EFO:0008524 {source="DOID:7134", source="MONDO:Redundant", source="NCIT:C6762"} ! small cell carcinoma is_a: MONDO:0003649 ! esophageal neuroendocrine tumor property_value: exactMatch DOID:7134 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1112474 property_value: exactMatch NCIT:C6762 [Term] id: MONDO:0004126 name: thyroiditis def: "Inflammation of the thyroid gland. This category includes Hashimoto thyroiditis, Riedel thyroiditis, acute thyroiditis, subacute thyroiditis, and radiation-induced thyroiditis." [NCIT:P378] synonym: "inflammation of thyroid gland" EXACT [] synonym: "thyroid gland inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "thyroiditis" EXACT [MONDO:ambiguous] synonym: "thyroiditis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:7166 {source="MONDO:equivalentTo"} xref: HP:0100646 {source="MONDO:otherHierarchy"} xref: ICD9:245 {source="DOID:7166"} xref: ICD9:245.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:7166"} xref: MESH:D013966 {source="MONDO:equivalentTo", source="DOID:7166"} xref: NCIT:C26894 {source="MONDO:equivalentTo", source="DOID:7166"} xref: SCTID:82119001 {source="MONDO:equivalentTo", source="DOID:7166"} xref: UMLS:C0040147 {source="NCIT:C26894", source="MONDO:equivalentTo", source="DOID:7166"} is_a: EFO:0009903 {source="MONDO:Redundant"} ! inflammatory disease is_a: EFO:1000627 {source="DOID:7166", source="MESH:D013966", source="MONDO:Redundant", source="NCIT:C26894/inferred"} ! thyroid disease property_value: exactMatch DOID:7166 property_value: exactMatch http://identifiers.org/mesh/D013966 property_value: exactMatch http://identifiers.org/snomedct/82119001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040147 property_value: exactMatch NCIT:C26894 property_value: IAO:0000589 "thyroiditis (disease)" xsd:string [Term] id: MONDO:0004139 name: normocytic anemia def: "Anemia in which the red blood cell volume is normal." [NCIT:C35142] synonym: "anaemia normocytic" EXACT OMO:0003005 [] synonym: "anemia normocytic" EXACT [DOID:720, MTH:NOCODE] synonym: "normocytic Anaemia" EXACT OMO:0003005 [] synonym: "normocytic Anemia" EXACT [NCIT:C35142] xref: DOID:720 {source="MONDO:equivalentTo"} xref: ICD9:285.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C35142 {source="DOID:720", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:300980002 {source="DOID:720", source="MONDO:equivalentTo"} xref: UMLS:C0085577 {source="DOID:720", source="NCIT:C35142", source="MONDO:equivalentTo"} is_a: MONDO:0002280 {source="DOID:720", source="NCIT:C35142"} ! anemia property_value: exactMatch DOID:720 property_value: exactMatch http://identifiers.org/snomedct/300980002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085577 property_value: exactMatch NCIT:C35142 [Term] id: MONDO:0004163 name: bladder urachal urothelial carcinoma def: "A transitional cell carcinoma of the urinary bladder that arises from the urachal epithelium." [NCIT:C39844] synonym: "bladder urachal urothelial carcinoma" EXACT [NCIT:C39844] xref: DOID:7244 {source="MONDO:equivalentTo"} xref: NCIT:C39844 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7244"} xref: UMLS:C1511207 {source="MONDO:equivalentTo", source="NCIT:C39844", source="DOID:7244"} is_a: EFO:0006544 {source="MONDO:Redundant", source="NCIT:C39844"} ! bladder transitional cell carcinoma is_a: MONDO:0003715 {source="DOID:7244", source="MONDO:Redundant", source="NCIT:C39844"} ! bladder urachal carcinoma property_value: exactMatch DOID:7244 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511207 property_value: exactMatch NCIT:C39844 [Term] id: MONDO:0004166 name: hereditary fallopian tube carcinoma def: "Fallopian tube carcinoma that has developed in relatives of patients that have a history of fallopian tube carcinoma." [NCIT:C40455] synonym: "familial fallopian tube carcinoma" EXACT [NCIT:C40455] synonym: "familiar fallopian tube carcinoma" RELATED [DOID:7266] synonym: "hereditary fallopian tube cancer" EXACT [NCIT:C40455] synonym: "hereditary fallopian tube carcinoma" EXACT [MONDO:patterns/hereditary, NCIT:C40455] xref: DOID:7266 {source="MONDO:equivalentTo"} xref: NCIT:C40455 {source="MONDO:equivalentTo", source="DOID:7266"} xref: UMLS:C1512418 {source="MONDO:equivalentTo", source="DOID:7266", source="NCIT:C40455"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:1000251 {source="DOID:7266", source="MONDO:Redundant", source="NCIT:C40455"} ! Fallopian Tube Carcinoma intersection_of: EFO:1000251 ! Fallopian Tube Carcinoma intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch DOID:7266 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1512418 property_value: exactMatch NCIT:C40455 [Term] id: MONDO:0004169 name: premenstrual tension def: "A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of pms are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses." [MESH:D011293] xref: DOID:727 {source="MONDO:equivalentTo"} xref: ICD9:625.4 {source="MONDO:relatedTo", source="DOID:727"} xref: MESH:D011293 {source="DOID:727", source="MONDO:equivalentTo"} xref: SCTID:82639001 {source="MONDO:relatedTo", source="DOID:727"} xref: UMLS:C0376356 {source="DOID:727", source="MONDO:equivalentTo"} is_a: EFO:0009549 {source="DOID:727"} ! female reproductive system disease property_value: exactMatch DOID:727 property_value: exactMatch http://identifiers.org/mesh/D011293 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0376356 [Term] id: MONDO:0004180 name: benign urinary system neoplasm def: "A non-metastasizing neoplasm that arises from the organs that comprise the urinary system. Representative examples include renal oncocytoma, bladder inverted papilloma, and urothelial papilloma." [NCIT:C4893] synonym: "benign neoplasm of the urinary tract" EXACT [NCIT:C4893] synonym: "benign neoplasm of urinary tract" EXACT [NCIT:C4893] synonym: "benign tumor of the urinary tract" EXACT [NCIT:C4893] synonym: "benign tumor of urinary tract" EXACT [NCIT:C4893] synonym: "benign tumour of the urinary tract" EXACT OMO:0003005 [] synonym: "benign tumour of urinary tract" EXACT OMO:0003005 [] synonym: "benign urinary system neoplasm" EXACT [NCIT:C4893] synonym: "benign urinary tract neoplasm" EXACT [NCIT:C4893] synonym: "benign urinary tract tumor" EXACT [NCIT:C4893] synonym: "benign urinary tract tumour" EXACT OMO:0003005 [] synonym: "neoplasm of urinary system" BROAD [DOID:731] synonym: "renal system benign neoplasm" EXACT [MONDO:patterns/location] synonym: "tumor of the urinary system" BROAD [DOID:731, NCIT:C3431] synonym: "tumor of urinary tract" BROAD [DOID:731] synonym: "tumour of the urinary system" BROAD OMO:0003005 [] synonym: "tumour of urinary tract" BROAD OMO:0003005 [] synonym: "urinary system benign neoplasm" RELATED [DOID:731] synonym: "urinary tract neoplasm" BROAD [DOID:731] xref: DOID:731 {source="MONDO:equivalentTo"} xref: ICD9:223.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:223.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D014571 {source="DOID:731", source="MONDO:equivalentTo"} xref: NCIT:C4893 {source="MONDO:equivalentTo"} xref: SCTID:92468007 {source="MONDO:equivalentTo"} is_a: EFO:0002422 {source="DOID:731", source="DOID:731/inferred", source="MONDO:Redundant"} ! benign neoplasm is_a: MONDO:0021066 {source="MONDO:Redundant", source="NCIT:C4893"} ! urinary system neoplasm property_value: exactMatch DOID:731 property_value: exactMatch http://identifiers.org/mesh/D014571 property_value: exactMatch http://identifiers.org/snomedct/92468007 property_value: exactMatch NCIT:C4893 [Term] id: MONDO:0004183 name: axonal neuropathy def: "Any nerve disorder affecting the axon of a nerve." [NCIT:C27301] synonym: "axon peripheral neuropathy" EXACT [MONDO:patterns/location] synonym: "axonal neuropathy" EXACT [NCIT:C27301] synonym: "peripheral neuropathy of axon" EXACT [MONDO:design_pattern] xref: DOID:7319 {source="MONDO:equivalentTo"} xref: NCIT:C27301 {source="DOID:7319", source="MONDO:equivalentTo"} xref: SCTID:60703000 {source="DOID:7319", source="MONDO:equivalentTo"} xref: UMLS:C0270921 {source="NCIT:C27301", source="DOID:7319", source="MONDO:equivalentTo"} is_a: EFO:0003100 {source="DOID:7319", source="MONDO:Redundant", source="NCIT:C27301"} ! peripheral neuropathy property_value: exactMatch DOID:7319 property_value: exactMatch http://identifiers.org/snomedct/60703000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270921 property_value: exactMatch NCIT:C27301 [Term] id: MONDO:0004187 name: nodular fasciitis def: "A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity." [NCIT:C3827] subset: ordo_disease {source="Orphanet:477742"} synonym: "fasciitis - nodular" EXACT [DOID:7327] synonym: "nodular fasciitis" EXACT [DOID:7327, MONDO:0018785, NCIT:C3827] synonym: "pseudosarcomatous fasciitis" EXACT [DOID:7327, NCIT:C3827, Orphanet:477742] synonym: "pseudosarcomatous fibromatosis" EXACT [DOID:7327, Orphanet:477742] xref: DOID:7327 {source="MONDO:equivalentTo"} xref: ICD10CM:M72.4 {source="DOID:7327", source="MONDO:equivalentTo"} xref: ICD9:728.79 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C3827 {source="DOID:7327", source="MONDO:equivalentTo"} xref: Orphanet:477742 {source="MONDO:equivalentTo"} xref: SCTID:400138001 {source="DOID:7327", source="MONDO:equivalentTo"} xref: UMLS:C0410005 {source="NCIT:C3827", source="DOID:7327", source="MONDO:equivalentTo"} is_a: EFO:1000255 {source="NCIT:C3827", source="NCIT:C3827/inferred"} ! Fibroblastic Neoplasm is_a: EFO:1000541 {source="Orphanet:477742"} ! Soft Tissue Neoplasm is_a: MONDO:0004830 {source="DOID:7327"} ! fasciitis is_a: MONDO:0019296 {source="Orphanet:477742"} ! subcutaneous tissue disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0019099"} ! rare property_value: exactMatch DOID:7327 property_value: exactMatch http://identifiers.org/snomedct/400138001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0410005 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/M72.4 property_value: exactMatch NCIT:C3827 property_value: exactMatch Orphanet:477742 [Term] id: MONDO:0004192 name: urethra cancer def: "A malignant neoplasm involving the urethra" [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of urethra" EXACT [DOID:734, MONDO:patterns/cancer] synonym: "malignant neoplasm of the urethra" EXACT [NCIT:C7507] synonym: "malignant neoplasm of urethra" EXACT [MONDO:patterns/cancer, NCIT:C7507] synonym: "malignant tumor of the urethra" EXACT [NCIT:C7507] synonym: "malignant tumor of urethra" EXACT [DOID:734, NCIT:C7507] synonym: "malignant tumour of the urethra" EXACT OMO:0003005 [] synonym: "malignant tumour of urethra" EXACT OMO:0003005 [] synonym: "malignant urethra neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7507] synonym: "malignant urethra tumor" EXACT [NCIT:C7507] synonym: "malignant urethra tumour" EXACT OMO:0003005 [] synonym: "malignant urethral neoplasm" EXACT [DOID:734, NCIT:C7507] synonym: "malignant urethral tumor" EXACT [NCIT:C7507] synonym: "malignant urethral tumour" EXACT OMO:0003005 [] synonym: "urethra cancer" EXACT [MONDO:patterns/location] synonym: "urethral Ca" EXACT [DOID:734] synonym: "urethral cancer" RELATED [ONCOTREE:UCA] xref: DOID:734 {source="MONDO:equivalentTo"} xref: ICD10CM:C68.0 {source="DOID:734", source="MONDO:equivalentTo"} xref: ICD9:189.3 {source="DOID:734", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C7507 {source="DOID:734", source="MONDO:equivalentTo"} xref: ONCOTREE:UCA {source="MONDO:equivalentTo"} xref: SCTID:363459007 {source="DOID:734", source="MONDO:equivalentTo"} is_a: EFO:0003846 {source="MONDO:Redundant", source="NCIT:C7507"} ! urethral neoplasm is_a: EFO:1000363 {source="DOID:734", source="ICD10CM:C68.0/inferred", source="MONDO:Redundant", source="NCIT:C7507"} ! Malignant Urinary System Neoplasm property_value: exactMatch DOID:734 property_value: exactMatch http://identifiers.org/snomedct/363459007 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/C68.0 property_value: exactMatch NCIT:C7507 [Term] id: MONDO:0004202 name: adrenal medulla carcinoma def: "A carcinoma that arises from epithelial cells of the adrenal medulla" [https://orcid.org/0000-0002-6601-2165] synonym: "adrenal medulla carcinoma" EXACT [MONDO:patterns/location] synonym: "carcinoma of adrenal medulla" EXACT [MONDO:patterns/carcinoma] xref: DOID:7379 {source="MONDO:equivalentTo"} xref: NCIT:C9276 {source="DOID:7379", source="MONDO:directSiblingOf"} xref: UMLS:C1334717 {source="DOID:7379", source="MONDO:directSiblingOf"} is_a: MONDO:0002814 ! adrenal carcinoma is_a: MONDO:0003606 {source="DOID:7379", source="MONDO:Entailed", source="MONDO:Redundant"} ! adrenal medulla cancer property_value: exactMatch DOID:7379 [Term] id: MONDO:0004222 name: ovarian clear cell cystadenocarcinoma def: "A malignant glandular epithelial neoplasm arising from the ovary. It is characterized by the presence of clear and hobnail cells and cystic structures." [NCIT:C7980] synonym: "ovarian clear cell cystadenocarcinoma" EXACT [NCIT:C7980] xref: DOID:7438 {source="MONDO:equivalentTo"} xref: NCIT:C7980 {source="DOID:7438", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C0279667 {source="NCIT:C7980", source="DOID:7438", source="MONDO:equivalentTo"} is_a: EFO:1000042 {source="MONDO:Redundant", source="NCIT:C7980"} ! ovarian clear cell adenocarcinoma is_a: EFO:1001962 {source="DOID:7438", source="MONDO:Redundant", source="NCIT:C7980"} ! ovarian cystadenocarcinoma intersection_of: EFO:1000042 {source="NCIT:C7980"} ! ovarian clear cell adenocarcinoma intersection_of: EFO:1001962 {source="NCIT:C7980"} ! ovarian cystadenocarcinoma property_value: exactMatch DOID:7438 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279667 property_value: exactMatch NCIT:C7980 [Term] id: MONDO:0004245 name: ependymal tumor of brain def: "A tumor arising from the ependymal lining of the ventricles." [NCIT:C3861] synonym: "brain ependymal tumor" EXACT [MONDO:patterns/location] synonym: "brain ependymal tumour" EXACT OMO:0003005 [] synonym: "brain ependymoma" RELATED [DOID:7497] synonym: "ependymal tumor of brain" EXACT [DOID:7497, NCIT:C3861] synonym: "ependymoma of brain" EXACT [DOID:7497] xref: DOID:7497 {source="MONDO:equivalentTo"} xref: NCIT:C3861 {source="MONDO:equivalentTo", source="DOID:7497"} xref: SCTID:254939008 {source="MONDO:equivalentTo", source="DOID:7497"} xref: UMLS:C0238029 {source="MONDO:equivalentTo", source="NCIT:C3861", source="DOID:7497"} is_a: EFO:1000027 {source="MONDO:Redundant", source="NCIT:C3861"} ! ependymal neoplasm is_a: MONDO:0005499 {source="DOID:7497"} ! brain glioma property_value: exactMatch DOID:7497 property_value: exactMatch http://identifiers.org/snomedct/254939008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238029 property_value: exactMatch NCIT:C3861 [Term] id: MONDO:0004247 name: peptic ulcer disease def: "A digestive system disease characterized by discontinuation in the inner lining of the gastrointestinal (GI) tract because of gastric acid secretion or pepsin." [https://www.ncbi.nlm.nih.gov/books/NBK534792/] synonym: "acute peptic ulcer with haemorrhage" EXACT OMO:0003005 [] synonym: "acute peptic ulcer with haemorrhage and perforation" EXACT OMO:0003005 [] synonym: "acute peptic ulcer with hemorrhage" EXACT [DOID:750] synonym: "acute peptic ulcer with hemorrhage and perforation" EXACT [DOID:750] synonym: "acute peptic ulcer without haemorrhage and without perforation" EXACT OMO:0003005 [] synonym: "acute peptic ulcer without hemorrhage and without perforation" EXACT [DOID:750] synonym: "peptic ulcer" EXACT [NCIT:C3318] xref: DOID:750 {source="MONDO:equivalentTo"} xref: ICD9:533 {source="DOID:750"} xref: MESH:D010437 {source="MONDO:equivalentTo", source="DOID:750"} xref: NCIT:C3318 {source="MONDO:equivalentTo", source="DOID:750"} xref: SCTID:13200003 {source="MONDO:equivalentTo", source="DOID:750"} xref: UMLS:C0030920 {source="MONDO:equivalentTo", source="DOID:750", source="NCIT:C3318"} is_a: EFO:0000405 {source="DOID:750", source="MESH:D010437/inferred", source="NCIT:C3318/inferred"} ! digestive system disease is_a: MONDO:0043839 {source="https://orcid.org/0000-0001-5208-3432"} ! ulcer disease property_value: exactMatch DOID:750 property_value: exactMatch http://identifiers.org/mesh/D010437 property_value: exactMatch http://identifiers.org/snomedct/13200003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030920 property_value: exactMatch NCIT:C3318 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0004251 name: small intestine neoplasm def: "A benign or malignant neoplasm that affects the small intestine. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma." [NCIT:P378] synonym: "neoplasm of small bowel" EXACT [NCIT:C4432] synonym: "neoplasm of small intestine" EXACT [MONDO:patterns/neoplasm, NCIT:C4432] synonym: "neoplasm of the small bowel" EXACT [NCIT:C4432] synonym: "neoplasm of the small intestine" EXACT [NCIT:C4432] synonym: "small bowel neoplasm" EXACT [NCIT:C4432] synonym: "small bowel tumor" EXACT [NCIT:C4432] synonym: "small bowel tumour" EXACT OMO:0003005 [] synonym: "small intestinal neoplasm" EXACT [DOID:7505, NCIT:C4432] synonym: "small intestine neoplasm" EXACT [NCIT:C4432] synonym: "small intestine neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "small intestine tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4432] synonym: "small intestine tumour" EXACT OMO:0003005 [] synonym: "tumor of small bowel" EXACT [NCIT:C4432] synonym: "tumor of small intestine" EXACT [MONDO:patterns/neoplasm, NCIT:C4432] synonym: "tumor of the small bowel" EXACT [NCIT:C4432] synonym: "tumor of the small intestine" EXACT [NCIT:C4432] synonym: "tumour of small bowel" EXACT OMO:0003005 [] synonym: "tumour of small intestine" EXACT OMO:0003005 [] synonym: "tumour of the small bowel" EXACT OMO:0003005 [] synonym: "tumour of the small intestine" EXACT OMO:0003005 [] xref: DOID:7505 {source="MONDO:equivalentTo"} xref: NCIT:C4432 {source="MONDO:equivalentTo", source="DOID:7505"} xref: SCTID:126832004 {source="MONDO:equivalentTo", source="DOID:7505"} xref: UMLS:C0345832 {source="MONDO:equivalentTo", source="NCIT:C4432", source="DOID:7505"} is_a: MONDO:0021118 {source="DOID:7505", source="MONDO:Redundant", source="NCIT:C4432"} ! intestinal neoplasm is_a: MONDO:0024635 ! small intestine disorder property_value: exactMatch DOID:7505 property_value: exactMatch http://identifiers.org/snomedct/126832004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345832 property_value: exactMatch NCIT:C4432 [Term] id: MONDO:0004255 name: Wolffian adnexal tumor def: "A benign or malignant epithelial neoplasm of probable Wolffian origin. It predominantly arises from the broad ligament and presents as a unilateral adnexal mass." [NCIT:C40141] synonym: "FATWO" RELATED ABBREVIATION [GARD:0008680] synonym: "female adnexal tumor of probable Wolffian origin" RELATED [GARD:0008680] synonym: "female adnexal tumour of probable Wolffian origin" RELATED OMO:0003005 [] synonym: "WAT" RELATED ABBREVIATION [GARD:0008680] synonym: "Wolffian adenoma" RELATED [GARD:0008680] synonym: "Wolffian adnexal neoplasm" EXACT [NCIT:C40141] synonym: "Wolffian adnexal tumor" EXACT [NCIT:C40141] synonym: "Wolffian tumor" RELATED [GARD:0008680] synonym: "Wolffian tumour" RELATED OMO:0003005 [] xref: DOID:7514 {source="MONDO:equivalentTo"} xref: MESH:C536741 {source="DOID:7514", source="MONDO:equivalentTo"} xref: NCIT:C40141 {source="DOID:7514", source="MONDO:equivalentTo"} xref: UMLS:C1520159 {source="DOID:7514", source="MONDO:equivalentTo", source="NCIT:C40141"} is_a: EFO:0006858 {source="MESH:C536741/inferred", source="MONDO:Redundant", source="NCIT:C40141"} ! epithelial neoplasm is_a: MONDO:0021629 {source="NCIT:C40141"} ! uterine ligament neoplasm property_value: exactMatch DOID:7514 property_value: exactMatch http://identifiers.org/mesh/C536741 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1520159 property_value: exactMatch NCIT:C40141 property_value: excluded_subClassOf MONDO:0003612 {source="DOID:7514"} [Term] id: MONDO:0004259 name: endocervical carcinoma def: "A carcinoma that arises from epithelial cells of the endocervix." [https://orcid.org/0000-0002-6601-2165] synonym: "carcinoma of endocervix" EXACT [DOID:7519, MONDO:patterns/carcinoma, NCIT:C28327] synonym: "carcinoma of the endocervix" EXACT [DOID:7519, NCIT:C28327] synonym: "endocervical adenocarcinoma" NARROW [NCIT:C28327] synonym: "endocervical cancer" EXACT [NCIT:C28327] synonym: "endocervical carcinoma" EXACT [NCIT:C28327] synonym: "endocervix carcinoma" EXACT [MONDO:patterns/location] xref: DOID:7519 {source="MONDO:equivalentTo"} xref: NCIT:C28327 {source="MONDO:equivalentObsolete", source="DOID:7519"} xref: SCTID:372098004 {source="MONDO:equivalentTo", source="DOID:7519"} xref: UMLS:C1299237 {source="MONDO:equivalentTo", source="DOID:7519", source="NCIT:C28327"} is_a: EFO:0001061 {source="DOID:7519", source="MONDO:Redundant", source="NCIT:C28327"} ! cervical carcinoma is_a: MONDO:0021309 {source="MONDO:Redundant"} ! malignant neoplasm of endocervix property_value: exactMatch DOID:7519 property_value: exactMatch http://identifiers.org/snomedct/372098004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1299237 [Term] id: MONDO:0004263 name: pediatric infratentorial ependymoblastoma def: "An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children." [NCIT:P378] synonym: "childhood infratentorial embryonal tumor with Multilayered Rosettes, C19MC-altered" EXACT [NCIT:C6773] synonym: "childhood infratentorial embryonal tumour with Multilayered Rosettes, C19MC-altered" EXACT OMO:0003005 [] synonym: "childhood infratentorial ependymoblastoma" EXACT [NCIT:C6773] synonym: "pediatric infratentorial ependymoblastoma" EXACT [NCIT:C6773] xref: DOID:7522 {source="MONDO:equivalentTo"} xref: NCIT:C6773 {source="DOID:7522", source="MONDO:equivalentTo"} xref: UMLS:C1332972 {source="DOID:7522", source="NCIT:C6773", source="MONDO:equivalentTo"} is_a: MONDO:0002798 ! childhood central nervous system primitive neuroectodermal neoplasm is_a: MONDO:0002915 {source="DOID:7522", source="NCIT:C6773"} ! childhood infratentorial neoplasm is_a: MONDO:0003107 {source="DOID:7522/inferred", source="MONDO:Redundant", source="NCIT:C6773"} ! infratentorial cancer is_a: MONDO:0003142 ! intracranial primitive neuroectodermal tumor is_a: MONDO:0016715 {source="DOID:7522", source="NCIT:C6773/inferred"} ! ependymoblastoma intersection_of: MONDO:0002915 ! childhood infratentorial neoplasm intersection_of: MONDO:0016715 ! ependymoblastoma property_value: exactMatch DOID:7522 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332972 property_value: exactMatch NCIT:C6773 [Term] id: MONDO:0004270 name: breast ductal adenoma def: "A benign, well circumscribed neoplasm that is located within the lumen of a duct in the breast parenchyma. It is characterized by the presence of glandular structures at the periphery and fibrous tissue at the center of the tumor." [NCIT:C40384] synonym: "breast ductal adenoma" EXACT [NCIT:C40384] synonym: "ductal adenoma" EXACT [NCIT:C40384] xref: DOID:7538 {source="MONDO:equivalentTo"} xref: NCIT:C40384 {source="MONDO:equivalentTo", source="DOID:7538", source="MONDO:exact-label-match"} xref: UMLS:C1511307 {source="MONDO:equivalentTo", source="DOID:7538", source="NCIT:C40384"} is_a: MONDO:0002058 {source="DOID:7538", source="NCIT:C40384"} ! breast adenoma property_value: exactMatch DOID:7538 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511307 property_value: exactMatch NCIT:C40384 [Term] id: MONDO:0004301 name: fibrosarcomatous osteosarcoma def: "A conventional osteosarcoma characterized by the presence of spindle shaped cells." [NCIT:P378] synonym: "fibroblastic osteogenic sarcoma" EXACT [NCIT:C4020] synonym: "fibroblastic osteosarcoma" EXACT [NCIT:C4020] synonym: "fibroblastic osteosarcoma (morphologic abnormality)" EXACT [DOID:7603] synonym: "fibrosarcomatous osteogenic sarcoma" EXACT [DOID:7603, NCIT:C4020] synonym: "fibrosarcomatous osteosarcoma" EXACT [NCIT:C4020] synonym: "FIOS" RELATED ABBREVIATION [ONCOTREE:FIOS] xref: DOID:7603 {source="MONDO:equivalentTo"} xref: ICDO:9182/3 {source="NCIT:C4020"} xref: NCIT:C4020 {source="DOID:7603", source="MONDO:equivalentTo"} xref: ONCOTREE:FIOS {source="MONDO:equivalentTo"} xref: UMLS:C0279602 {source="NCIT:C4020", source="DOID:7603", source="MONDO:equivalentTo"} is_a: MONDO:0002631 {source="DOID:7603", source="NCIT:C4020"} ! conventional osteosarcoma property_value: exactMatch DOID:7603 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279602 property_value: exactMatch NCIT:C4020 [Term] id: MONDO:0004321 name: endometrial mixed adenocarcinoma def: "An adenocarcinoma that arises from the endometrium and is characterized by the presence of both type I and type II endometrial adenocarcinoma components. The minor component constitutes at least 5% of the entire tumor." [NCIT:C40153] synonym: "endometrial mixed adenocarcinoma" EXACT [NCIT:C40153] xref: DOID:7664 {source="MONDO:equivalentTo"} xref: NCIT:C40153 {source="DOID:7664", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1516856 {source="DOID:7664", source="MONDO:equivalentTo", source="NCIT:C40153"} is_a: EFO:0005232 {source="DOID:7664", source="NCIT:C40153"} ! endometrium adenocarcinoma property_value: exactMatch DOID:7664 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516856 property_value: exactMatch NCIT:C40153 [Term] id: MONDO:0004323 name: muscular atrophy def: "The loss of muscle tissue due to inactivity or disease." [NCIT:P378] synonym: "amyotrophia" EXACT [DOID:767] synonym: "muscle wasting" EXACT [DOID:767] synonym: "wasting - muscle" EXACT [DOID:767] xref: DOID:767 {source="MONDO:equivalentTo"} xref: ICD9:728.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D009133 {source="DOID:767", source="MONDO:equivalentTo"} xref: SCTID:88092000 {source="DOID:767", source="MONDO:equivalentTo"} is_a: EFO:0004145 {source="DOID:767"} ! myopathy property_value: exactMatch DOID:767 property_value: exactMatch http://identifiers.org/mesh/D009133 property_value: exactMatch http://identifiers.org/snomedct/88092000 [Term] id: MONDO:0004331 name: bladder urachal adenocarcinoma def: "A adenocarcinoma that involves the urachus." [MONDO:patterns/location] subset: gard_rare synonym: "adenocarcinoma of the urachus" RELATED [GARD:0010186] synonym: "bladder urachal adenocarcinoma" EXACT [NCIT:C39843] synonym: "urachal adenocarcinoma" RELATED [ONCOTREE:UA] synonym: "urachus adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:7694 {source="MONDO:equivalentTo"} xref: MESH:C536474 {source="MONDO:equivalentTo"} xref: NCIT:C39843 {source="MONDO:equivalentTo", source="NCIT:C39843", source="DOID:7694"} xref: ONCOTREE:UA {source="MONDO:equivalentTo"} xref: UMLS:C1511204 {source="MONDO:equivalentTo", source="NCIT:C39843", source="DOID:7694"} is_a: EFO:1000125 {source="MONDO:Redundant", source="NCIT:C39843"} ! Bladder Adenocarcinoma is_a: MONDO:0001378 ! urachus cancer is_a: MONDO:0003715 {source="DOID:7694", source="NCIT:C39843", source="ONCOTREE:UA"} ! bladder urachal carcinoma property_value: exactMatch DOID:7694 property_value: exactMatch http://identifiers.org/mesh/C536474 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511204 property_value: exactMatch NCIT:C39843 [Term] id: MONDO:0004338 name: retinal cell cancer synonym: "cancer of retinal cell" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of retinal cell" EXACT [MONDO:patterns/cancer] synonym: "malignant retinal cell neoplasm" EXACT [MONDO:patterns/cancer] synonym: "retinal cell cancer" EXACT [MONDO:patterns/location] xref: DOID:771 {source="MONDO:equivalentTo"} xref: NCIT:C7061 {source="MONDO:relatedTo", source="DOID:771"} xref: UMLS:C1335765 {source="MONDO:relatedTo", source="DOID:771"} is_a: EFO:0005716 {source="DOID:771", source="MONDO:Redundant"} ! retinal cancer is_a: MONDO:0024341 ! retinal cell neoplasm property_value: exactMatch DOID:771 [Term] id: MONDO:0004346 name: signet ring cell intrahepatic cholangiocarcinoma def: "An intrahepatic cholangiocarcinoma characterized by the presence of signet ring adenocarcinoma cells." [NCIT:C41619] synonym: "signet Ring cell intrahepatic cholangiocarcinoma" EXACT [NCIT:C41619] xref: DOID:7733 {source="MONDO:equivalentTo"} xref: NCIT:C41619 {source="DOID:7733", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1519321 {source="DOID:7733", source="MONDO:equivalentTo", source="NCIT:C41619"} is_a: EFO:1001961 {source="DOID:7733", source="MONDO:Redundant", source="NCIT:C41619"} ! intrahepatic cholangiocarcinoma is_a: MONDO:0002664 ! extrahepatic bile duct signet ring cell carcinoma intersection_of: EFO:0000698 ! signet ring cell carcinoma intersection_of: EFO:1001961 ! intrahepatic cholangiocarcinoma property_value: exactMatch DOID:7733 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519321 property_value: exactMatch NCIT:C41619 [Term] id: MONDO:0004348 name: retinal telangiectasia comment: Consider obsoleting and ceding to HPO xref: DOID:7736 {source="MONDO:equivalentTo"} xref: HP:0007763 {source="MONDO:otherHierarchy"} xref: ICD9:362.15 {source="MONDO:equivalentTo", source="DOID:7736", source="MONDO:i2s"} xref: SCTID:84884003 {source="MONDO:equivalentTo", source="DOID:7736"} xref: UMLS:C0154835 {source="MONDO:equivalentTo", source="DOID:7736"} is_a: MONDO:0002311 {source="DOID:7736"} ! retinal vascular disorder property_value: exactMatch DOID:7736 property_value: exactMatch http://identifiers.org/snomedct/84884003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154835 [Term] id: MONDO:0004355 name: childhood leukemia def: "An acute or chronic leukemia that occurs during childhood." [NCIT:C4989] synonym: "childhood leukaemia (disease)" EXACT OMO:0003005 [] synonym: "childhood leukemia" EXACT [NCIT:C4989] synonym: "childhood leukemia (disease)" EXACT [] synonym: "leukaemia" BROAD OMO:0003005 [] synonym: "leukaemia (disease) of childhood" EXACT OMO:0003005 [] synonym: "leukemia" BROAD [NCIT:C4989] synonym: "leukemia (disease) of childhood" EXACT [MONDO:patterns/childhood] synonym: "paediatric leukaemia (disease)" EXACT OMO:0003005 [] synonym: "pediatric leukemia (disease)" EXACT [MONDO:patterns/childhood] xref: DOID:7757 {source="MONDO:equivalentTo"} xref: NCIT:C4989 {source="DOID:7757", source="MONDO:equivalentTo"} xref: UMLS:C1332977 {source="DOID:7757", source="MONDO:equivalentTo", source="NCIT:C4989"} is_a: EFO:0000565 {source="DOID:7757", source="MONDO:Redundant", source="NCIT:C4989"} ! leukemia is_a: EFO:1000654 {source="NCIT:C4989"} ! childhood cancer property_value: exactMatch DOID:7757 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332977 property_value: exactMatch NCIT:C4989 [Term] id: MONDO:0004357 name: carcinoma of supraglottis def: "A carcinoma of the larynx that arises from the supraglottic area." [NCIT:P378] synonym: "cancer of supraglottis" EXACT [NCIT:C5973] synonym: "cancer of the supraglottis" EXACT [NCIT:C5973] synonym: "carcinoma of supraglottic part of larynx" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of supraglottis" EXACT [NCIT:C5973] synonym: "carcinoma of the supraglottis" EXACT [NCIT:C5973] synonym: "supraglottic cancer" EXACT [NCIT:C5973] synonym: "supraglottic carcinoma" EXACT [DOID:7763, NCIT:C5973] synonym: "supraglottic part of larynx carcinoma" EXACT [MONDO:patterns/location] synonym: "supraglottic throat cancer" EXACT [NCIT:C5973] synonym: "supraglottis carcinoma" EXACT [NCIT:C5973] xref: DOID:7763 {source="MONDO:equivalentTo"} xref: NCIT:C5973 {source="DOID:7763", source="MONDO:equivalentTo"} xref: SCTID:372105009 {source="DOID:7763", source="MONDO:equivalentTo"} xref: UMLS:C1299240 {source="DOID:7763", source="MONDO:equivalentTo", source="NCIT:C5973"} is_a: MONDO:0001724 {source="DOID:7763", source="MONDO:Redundant", source="NCIT:C5973"} ! supraglottis cancer is_a: MONDO:0002358 {source="MONDO:Redundant", source="NCIT:C5973"} ! laryngeal carcinoma property_value: exactMatch DOID:7763 property_value: exactMatch http://identifiers.org/snomedct/372105009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1299240 property_value: exactMatch NCIT:C5973 [Term] id: MONDO:0004359 name: delusional disorder def: "A disorder characterized by the presence of one or more nonbizarre delusions that persist for at least 1 month; the delusion(s) are not due to schizophrenia or a mood disorder, and do not impair psychosocial functioning apart from the ramifications of the delusion(s)." [NCIT:P378] xref: DOID:778 {source="MONDO:equivalentTo"} xref: ICD10WHO:F22.0 {source="MONDO:equivalentTo"} xref: ICD9:297.1 {source="DOID:778", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D012563 {source="DOID:778", source="MONDO:relatedTo"} xref: NCIT:C94379 {source="DOID:778", source="MONDO:equivalentTo"} xref: SCTID:48500005 {source="DOID:778", source="MONDO:equivalentTo"} is_a: EFO:0005407 {source="DOID:778", source="MONDO:cjm"} ! psychosis property_value: exactMatch DOID:778 property_value: exactMatch http://identifiers.org/snomedct/48500005 property_value: exactMatch https://icd.who.int/browse10/2019/en#/F22.0 property_value: exactMatch NCIT:C94379 [Term] id: MONDO:0004379 name: female breast carcinoma def: "A carcinoma that arises from the breast in females. It is the most common malignant tumor that affects females." [NCIT:C2918] synonym: "breast carcinoma, female" EXACT [NCIT:C2918] synonym: "carcinoma of female breast" EXACT [DOID:7843, NCIT:C2918] synonym: "carcinoma of the female breast" EXACT [NCIT:C2918] synonym: "female breast cancer" EXACT [MONDO:0000398, NCIT:C2918] synonym: "female breast carcinoma" EXACT [NCIT:C2918] synonym: "mammary carcinoma of female breast" EXACT [DOID:7843, NCIT:C2918] synonym: "mammary carcinoma of the female breast" EXACT [NCIT:C2918] xref: DOID:0050671 {source="MONDO:equivalentTo"} xref: DOID:7843 {source="MONDO:equivalentTo"} xref: ICD9:174.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:174.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C2918 {source="DOID:7843", source="MONDO:equivalentTo"} xref: SCTID:372064008 {source="MONDO:equivalentTo"} xref: SCTID:447782002 {source="MONDO:equivalentTo"} xref: UMLS:C0007104 {source="DOID:7843", source="MONDO:equivalentTo", source="NCIT:C2918"} is_a: EFO:0000305 {source="DOID:7843", source="NCIT:C2918"} ! breast carcinoma property_value: exactMatch DOID:0050671 property_value: exactMatch DOID:7843 property_value: exactMatch http://identifiers.org/snomedct/372064008 property_value: exactMatch http://identifiers.org/snomedct/447782002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007104 property_value: exactMatch NCIT:C2918 [Term] id: MONDO:0004380 name: dendritic cell sarcoma def: "A sarcoma that involves the dendritic cell." [MONDO:patterns/location] comment: Editor note: we place the NCIT class here even though it is NOS synonym: "Dendritic cell sarcoma" EXACT [DOID:7849] synonym: "dendritic cell sarcoma" EXACT [MONDO:patterns/location] synonym: "Dendritic cell sarcoma, not otherwise specified (morphologic abnormality)" EXACT [DOID:7849] synonym: "follicular dendritic cell sarcoma" RELATED [DOID:7849] synonym: "sarcoma of dendritic cell" EXACT [MONDO:patterns/sarcoma] xref: DOID:7849 {source="MONDO:equivalentTo"} xref: NCIT:C27260 {source="MONDO:equivalentTo", source="DOID:7849"} xref: ONCOTREE:DCS {source="MONDO:equivalentTo"} xref: SCTID:446643000 {source="MONDO:equivalentTo"} is_a: EFO:0000691 {source="DOID:7849", source="MONDO:Entailed", source="MONDO:Redundant"} ! sarcoma is_a: EFO:1000297 {source="DOID:7849", source="NCIT:C27260"} ! Histiocytic and Dendritic Cell Neoplasm is_a: MONDO:0000621 ! immune system cancer is_a: MONDO:0004805 {source="DOID:7849", source="MONDO:Entailed", source="MONDO:Redundant"} ! leukocyte disorder property_value: exactMatch DOID:7849 property_value: exactMatch http://identifiers.org/snomedct/446643000 property_value: exactMatch NCIT:C27260 [Term] id: MONDO:0004386 name: uterine corpus atypical polypoid adenomyoma def: "An adenomyoma that arises from the uterine corpus and is characterized by the presence of marked glandular architectural complexity. It may recur following excision." [NCIT:P378] synonym: "atypical polypoid adenomyoma of body of uterus" EXACT [MONDO:design_pattern] synonym: "body of uterus atypical polypoid adenomyoma" EXACT [MONDO:patterns/location] xref: DOID:7878 {source="MONDO:equivalentTo"} xref: NCIT:C40235 {source="DOID:7878", source="MONDO:equivalentTo"} xref: UMLS:C1519844 {source="DOID:7878", source="MONDO:equivalentTo", source="NCIT:C40235"} is_a: MONDO:0003236 {source="DOID:7878", source="MONDO:Redundant", source="NCIT:C40235"} ! atypical polypoid adenomyoma is_a: MONDO:0003237 {source="DOID:7878", source="MONDO:Redundant", source="NCIT:C40235"} ! adenomyoma of uterine corpus property_value: exactMatch DOID:7878 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519844 property_value: exactMatch NCIT:C40235 [Term] id: MONDO:0004389 name: mite infestation def: "Infestations with arthropods of the subclass acari, superorder Acariformes." [MESH:D008924] xref: DOID:7894 {source="MONDO:equivalentTo"} xref: ICD9:133 {source="DOID:7894"} xref: ICD9:133.9 {source="DOID:7894"} xref: MESH:D008924 {source="MONDO:equivalentTo", source="DOID:7894"} xref: SCTID:240885009 {source="MONDO:equivalentTo", source="DOID:7894"} xref: UMLS:C0026229 {source="MONDO:equivalentTo", source="DOID:7894"} is_a: MONDO:0002875 {source="DOID:7894", source="MESH:D008924"} ! parasitic ectoparasitic infectious disease property_value: exactMatch DOID:7894 property_value: exactMatch http://identifiers.org/mesh/D008924 property_value: exactMatch http://identifiers.org/snomedct/240885009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026229 [Term] id: MONDO:0004392 name: intracranial extraskeletal myxoid chondrosarcoma def: "An extraskeletal myxoid chondrosarcoma arising from the structures within the cranium." [NCIT:C5462] synonym: "intracranial chondrosarcoma" RELATED [DOID:7903] synonym: "intracranial extraskeletal myxoid chondrosarcoma" EXACT [NCIT:C5462] xref: DOID:7903 {source="MONDO:equivalentTo"} xref: NCIT:C5462 {source="MONDO:equivalentTo", source="DOID:7903"} xref: UMLS:C1334238 {source="NCIT:C5462", source="MONDO:equivalentTo", source="DOID:7903"} is_a: MONDO:0002217 {source="MONDO:Redundant", source="NCIT:C5462"} ! central nervous system sarcoma is_a: MONDO:0012825 {source="MONDO:Redundant", source="NCIT:C5462"} ! extraskeletal myxoid chondrosarcoma intersection_of: MONDO:0002217 {source="NCIT:C5462"} ! central nervous system sarcoma intersection_of: MONDO:0012825 {source="NCIT:C5462"} ! extraskeletal myxoid chondrosarcoma property_value: exactMatch DOID:7903 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334238 property_value: exactMatch NCIT:C5462 [Term] id: MONDO:0004403 name: childhood precursor T-lymphoblastic lymphoma/leukemia def: "A T lymphoblastic leukemia/lymphoma that occurs during childhood." [NCIT:P378] synonym: "childhood precursor T-lymphoblastic lymphoma/leukemia" EXACT [NCIT:C5640] synonym: "childhood T lymphoblastic leukemia/lymphoma" EXACT [NCIT:C5640] synonym: "paediatric precursor T-lymphoblastic lymphoma/leukemia" EXACT OMO:0003005 [] synonym: "pediatric precursor T-lymphoblastic lymphoma/leukemia" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "precursor T-lymphoblastic lymphoma/leukemia of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] xref: DOID:7933 {source="MONDO:equivalentObsolete"} xref: NCIT:C5640 {source="DOID:7933", source="MONDO:equivalentTo"} xref: UMLS:C1332997 {source="DOID:7933", source="NCIT:C5640", source="MONDO:equivalentTo"} is_a: EFO:1000654 {source="NCIT:C5640"} ! childhood cancer is_a: MONDO:0003537 {source="DOID:7933", source="MONDO:Redundant", source="NCIT:C5640"} ! precursor T-lymphoblastic lymphoma/leukemia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332997 property_value: exactMatch NCIT:C5640 [Term] id: MONDO:0004427 name: supraglottis neoplasm def: "A benign or malignant neoplasm that affects the supraglottic area of the larynx." [NCIT:C6793] synonym: "neoplasm of supraglottic part of larynx" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of supraglottis" EXACT [NCIT:C6793] synonym: "neoplasm of the supraglottis" EXACT [NCIT:C6793] synonym: "supraglottic neoplasm" EXACT [NCIT:C6793] synonym: "supraglottic part of larynx neoplasm" EXACT [] synonym: "supraglottic part of larynx neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "supraglottic part of larynx tumor" EXACT [MONDO:patterns/neoplasm] synonym: "supraglottic part of larynx tumour" EXACT OMO:0003005 [] synonym: "supraglottic tumor" EXACT [DOID:8002, NCIT:C6793] synonym: "supraglottic tumour" EXACT OMO:0003005 [] synonym: "supraglottis neoplasm" EXACT [NCIT:C6793] synonym: "supraglottis tumor" EXACT [NCIT:C6793] synonym: "supraglottis tumour" EXACT OMO:0003005 [] synonym: "tumor of supraglottic part of larynx" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of supraglottis" EXACT [NCIT:C6793] synonym: "tumor of the supraglottis" EXACT [NCIT:C6793] synonym: "tumour of supraglottic part of larynx" EXACT OMO:0003005 [] synonym: "tumour of supraglottis" EXACT OMO:0003005 [] synonym: "tumour of the supraglottis" EXACT OMO:0003005 [] xref: DOID:8002 {source="MONDO:equivalentTo"} xref: NCIT:C6793 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:8002"} xref: SCTID:126697005 {source="MONDO:equivalentTo", source="DOID:8002"} xref: UMLS:C0345726 {source="NCIT:C6793", source="MONDO:equivalentTo", source="DOID:8002"} is_a: EFO:0003817 {source="MONDO:Redundant", source="NCIT:C6793"} ! laryngeal neoplasm property_value: exactMatch DOID:8002 property_value: exactMatch http://identifiers.org/snomedct/126697005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345726 property_value: exactMatch NCIT:C6793 [Term] id: MONDO:0004435 name: liver fibrosarcoma def: "A usually aggressive malignant neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." [NCIT:C5832] synonym: "fibrosarcoma of liver" EXACT [NCIT:C5832] synonym: "fibrosarcoma of the liver" EXACT [NCIT:C5832] synonym: "hepatic fibrosarcoma" EXACT [NCIT:C5832] synonym: "liver fibrosarcoma" EXACT [NCIT:C5832] synonym: "liver fibrosarcoma (disease)" EXACT [MONDO:patterns/location] xref: DOID:8022 {source="MONDO:equivalentTo"} xref: NCIT:C5832 {source="MONDO:equivalentTo", source="DOID:8022", source="MONDO:exact-label-match"} xref: UMLS:C1333966 {source="MONDO:equivalentTo", source="DOID:8022", source="NCIT:C5832"} is_a: EFO:0002087 {source="DOID:8022", source="MONDO:Redundant", source="NCIT:C5832/inferred"} ! fibrosarcoma is_a: MONDO:0002397 {source="DOID:8022", source="MONDO:Redundant", source="NCIT:C5832"} ! liver sarcoma property_value: exactMatch DOID:8022 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333966 property_value: exactMatch NCIT:C5832 [Term] id: MONDO:0004458 name: bladder mixed adenocarcinoma xref: DOID:8096 {source="MONDO:equivalentTo"} xref: NCIT:C39839 {source="MONDO:equivalentTo", source="DOID:8096"} xref: UMLS:C1511192 {source="MONDO:equivalentTo", source="DOID:8096", source="NCIT:C39839"} is_a: EFO:1000125 {source="DOID:8096", source="NCIT:C39839"} ! Bladder Adenocarcinoma property_value: exactMatch DOID:8096 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511192 property_value: exactMatch NCIT:C39839 [Term] id: MONDO:0004479 name: malignant childhood germ cell neoplasm def: "A malignant germ cell tumor that occurs during childhood." [NCIT:C6541] synonym: "malignant childhood germ cell neoplasm" EXACT [NCIT:C6541] synonym: "malignant childhood germ cell tumor" RELATED [NCIT:C6541] synonym: "malignant childhood germ cell tumour" RELATED OMO:0003005 [] synonym: "malignant paediatric germ cell neoplasm" RELATED OMO:0003005 [] synonym: "malignant paediatric germ cell tumour" EXACT OMO:0003005 [] synonym: "malignant pediatric germ cell neoplasm" RELATED [NCIT:C6541] synonym: "malignant pediatric germ cell tumor" EXACT [DOID:8149, NCIT:C6541] xref: DOID:8149 {source="MONDO:equivalentTo"} xref: NCIT:C6541 {source="DOID:8149", source="MONDO:equivalentTo"} xref: UMLS:C1334574 {source="DOID:8149", source="NCIT:C6541", source="MONDO:equivalentTo"} is_a: EFO:1000352 {source="MONDO:Redundant", source="NCIT:C6541"} ! Malignant Germ Cell Tumor is_a: EFO:1000654 {source="MONDO:Redundant", source="NCIT:C6541"} ! childhood cancer is_a: MONDO:0003751 {source="DOID:8149", source="MONDO:Redundant", source="NCIT:C6541"} ! childhood germ cell tumor intersection_of: EFO:1000352 {source="NCIT:C6541"} ! Malignant Germ Cell Tumor intersection_of: EFO:1000654 {source="NCIT:C6541"} ! childhood cancer property_value: exactMatch DOID:8149 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334574 property_value: exactMatch NCIT:C6541 [Term] id: MONDO:0004483 name: thyroid gland oncocytic adenoma def: "A thyroid gland adenoma composed of large cells with abundant granular eosinophilic cytoplasm and large nuclei with prominent nucleoli." [NCIT:C6042] synonym: "benign oncocytoma of the thyroid" EXACT [DOID:8162, NCIT:C6042] synonym: "benign oncocytoma of the thyroid gland" RELATED [NCIT:C6042] synonym: "benign oncocytoma of thyroid" RELATED [NCIT:C6042] synonym: "benign oncocytoma of thyroid gland" RELATED [NCIT:C6042] synonym: "benign thyroid gland oncocytoma" RELATED [NCIT:C6042] synonym: "benign thyroid oncocytoma" RELATED [NCIT:C6042] synonym: "follicular adenoma of the thyroid gland of the oxyphilic cell type" RELATED [NCIT:C6042] synonym: "follicular adenoma of the thyroid of the oxyphilic cell type" RELATED [NCIT:C6042] synonym: "follicular adenoma of thyroid gland of oxyphilic cell type" RELATED [NCIT:C6042] synonym: "follicular adenoma of thyroid of oxyphilic cell type" RELATED [NCIT:C6042] synonym: "Hurthle cell adenoma" RELATED [NCIT:C6042] synonym: "Hurthle cell adenoma of the thyroid" RELATED [NCIT:C6042] synonym: "Hurthle cell adenoma of the thyroid gland" RELATED [NCIT:C6042] synonym: "Hurthle cell adenoma of thyroid" RELATED [NCIT:C6042] synonym: "Hurthle cell adenoma of thyroid gland" RELATED [NCIT:C6042] synonym: "OAT" BROAD ABBREVIATION [ONCOTREE:OAT] synonym: "oncocytic adenoma of the thyroid" RELATED [NCIT:C6042] synonym: "oncocytic adenoma of the thyroid gland" RELATED [NCIT:C6042] synonym: "oncocytic adenoma of thyroid" RELATED [NCIT:C6042] synonym: "oncocytic adenoma of thyroid gland" RELATED [NCIT:C6042] synonym: "thyroid follicular adenoma of oxyphilic cell type" RELATED [NCIT:C6042] synonym: "thyroid follicular adenoma of the oxyphilic cell type" RELATED [NCIT:C6042] synonym: "thyroid gland follicular adenoma of oxyphilic cell type" RELATED [NCIT:C6042] synonym: "thyroid gland follicular adenoma of the oxyphilic cell type" RELATED [NCIT:C6042] synonym: "thyroid gland Hurthle cell adenoma" RELATED [NCIT:C6042] synonym: "thyroid gland oncocytic adenoma" EXACT [NCIT:C6042] synonym: "thyroid Hurthle cell adenoma" RELATED [NCIT:C6042] synonym: "thyroid oncocytic adenoma" RELATED [NCIT:C6042] xref: DOID:8162 {source="MONDO:equivalentTo"} xref: NCIT:C6042 {source="NCIT:C6042", source="MONDO:equivalentTo", source="DOID:8162"} xref: ONCOTREE:OAT {source="MONDO:equivalentTo"} xref: UMLS:C1336750 {source="NCIT:C6042", source="MONDO:equivalentTo", source="DOID:8162"} is_a: EFO:0000499 {source="DOID:8162", source="NCIT:C6042"} ! follicular thyroid adenoma is_a: EFO:1001079 {source="NCIT:C6042"} ! oxyphilic adenoma property_value: exactMatch DOID:8162 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336750 property_value: exactMatch NCIT:C6042 [Term] id: MONDO:0004497 name: tertiary syphilis def: "A stage of syphilis that occurs fifteen to thirty years after the initial infection; it can include gumma formation and cardiovascular or central nervous system involvement (neurosyphilis)." [NCIT:C128414] synonym: "late syphilis" EXACT [DOID:8200] synonym: "late tertiary syphilis" EXACT [] synonym: "tertiary syphilis" EXACT [] xref: DOID:8200 {source="MONDO:equivalentTo"} xref: ICD9:095.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:095.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:097.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8200"} xref: MESH:C536774 {source="MONDO:equivalentTo", source="DOID:8200"} xref: NCIT:C128414 {source="MONDO:equivalentTo"} xref: SCTID:72083004 {source="MONDO:equivalentTo", source="DOID:8200"} xref: UMLS:C0153188 {source="MONDO:equivalentTo", source="NCIT:C128414", source="DOID:8200"} is_a: EFO:0007504 {source="DOID:8200", source="MESH:C536774", source="NCIT:C128414"} ! syphilis property_value: exactMatch DOID:8200 property_value: exactMatch http://identifiers.org/mesh/C536774 property_value: exactMatch http://identifiers.org/snomedct/72083004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153188 property_value: exactMatch NCIT:C128414 [Term] id: MONDO:0004514 name: chronic rhinitis def: "Chronic inflammation of the nasal cavity mucosa. It may lead to post-nasal drip resulting in chronic sore throat and chronic cough." [NCIT:P378] synonym: "rhinitis - chronic" EXACT [DOID:8252] synonym: "rhinitis, chronic" EXACT [MONDO:patterns/chronic] xref: DOID:8252 {source="MONDO:equivalentTo"} xref: ICD9:472.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8252"} xref: NCIT:C34479 {source="MONDO:equivalentTo", source="DOID:8252"} xref: SCTID:86094006 {source="MONDO:equivalentTo", source="DOID:8252"} xref: UMLS:C0008711 {source="MONDO:equivalentTo", source="NCIT:C34479", source="DOID:8252"} is_a: EFO:0008521 {source="DOID:8252", source="MONDO:Redundant", source="NCIT:C34479"} ! rhinitis property_value: exactMatch DOID:8252 property_value: exactMatch http://identifiers.org/snomedct/86094006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008711 property_value: exactMatch NCIT:C34479 [Term] id: MONDO:0004526 name: mixed endometrial stromal and smooth muscle tumor def: "A benign or malignant mesenchymal neoplasm of the uterine corpus. Representative examples include leiomyoma, leiomyosarcoma, and endometrial stromal sarcoma." [NCIT:C40179] synonym: "mixed endometrial stromal and smooth muscle neoplasm" EXACT [NCIT:C40178] synonym: "Stromomyoma" EXACT [DOID:8302, NCIT:C40178] synonym: "uterine corpus soft tissue neoplasm" EXACT [NCIT:C40179] xref: DOID:8302 {source="MONDO:equivalentTo"} xref: NCIT:C40178 {source="DOID:8302", source="MONDO:equivalentTo"} xref: UMLS:C1513364 {source="DOID:8302", source="MONDO:equivalentTo", source="NCIT:C40178"} xref: UMLS:C1519865 {source="MONDO:equivalentTo"} is_a: EFO:1000541 {source="MONDO:Redundant", source="NCIT:C40178/inferred", source="NCIT:C40179"} ! Soft Tissue Neoplasm is_a: MONDO:0021254 {source="MONDO:Redundant", source="NCIT:C40178/inferred", source="NCIT:C40179"} ! corpus uteri neoplasm property_value: exactMatch DOID:8302 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1513364 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519865 property_value: exactMatch NCIT:C40178 property_value: excluded_subClassOf MONDO:0006003 {source="DOID:8302"} [Term] id: MONDO:0004527 name: congenital granular cell tumor def: "An instance of granular cell tumor that is present from birth." [MONDO:patterns/congenital] synonym: "congenital granular cell tumor" EXACT [MONDO:patterns/congenital] xref: DOID:8303 {source="MONDO:equivalentTo"} is_a: EFO:1000284 ! Granular Cell Tumor is_a: MONDO:0002320 ! congenital nervous system disorder intersection_of: EFO:1000284 ! Granular Cell Tumor intersection_of: has_characteristic MONDO:0021140 ! congenital property_value: exactMatch DOID:8303 property_value: excluded_subClassOf MONDO:0002616 {source="DOID:8303"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0004528 name: lymph node palisaded myofibroblastoma def: "A myofibroblastoma arising from the inguinal lymph nodes. It is characterized by the presence of nuclear palisading." [NCIT:P378] synonym: "palisaded lymph node myofibroblastoma" EXACT [NCIT:C6584] synonym: "palisaded myofibroblastoma of lymph node" EXACT [NCIT:C6584] synonym: "palisaded myofibroblastoma of the lymph node" EXACT [DOID:8304, NCIT:C6584] xref: DOID:8304 {source="MONDO:equivalentTo"} xref: NCIT:C6584 {source="DOID:8304", source="MONDO:equivalentTo"} xref: UMLS:C1335295 {source="NCIT:C6584", source="DOID:8304", source="MONDO:equivalentTo"} is_a: MONDO:0024339 ! lymph node neoplasm is_a: MONDO:0040675 ! myofibroblastoma property_value: exactMatch DOID:8304 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335295 property_value: exactMatch NCIT:C6584 property_value: excluded_subClassOf MONDO:0001082 {source="DOID:8304"} [Term] id: MONDO:0004532 name: auditory system cancer def: "A malignant neoplasm involving the auditory system" [https://orcid.org/0000-0002-6601-2165] synonym: "auditory system cancer" EXACT [MONDO:patterns/location] synonym: "cancer of auditory system" EXACT [MONDO:patterns/cancer] synonym: "malignant auditory system neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of auditory system" EXACT [MONDO:patterns/cancer] xref: DOID:833 {source="MONDO:equivalentTo"} xref: MESH:D004428 {source="DOID:833", source="MONDO:relatedTo"} xref: NCIT:C3000 {source="DOID:833", source="MONDO:relatedTo"} is_a: EFO:1001455 {source="DOID:833", source="MONDO:Entailed", source="MONDO:Redundant"} ! auditory system disease is_a: MONDO:0000649 {source="DOID:833", source="MONDO:Entailed", source="MONDO:Redundant"} ! sensory system cancer property_value: exactMatch DOID:833 [Term] id: MONDO:0004557 name: congenital fibrosarcoma def: "A fibrosarcoma that occurs in infants. It shares identical morphologic features with adult fibrosarcoma but carries the t(12;15)(p13;q25) translocation that results in ETV6-NTRK3 gene fusion. It usually affects the superficial and deep soft tissues of the extremities. The prognosis is generally much more favorable than for adult fibrosarcoma, and it rarely metastasizes." [NCIT:P378] synonym: "congenital fibrosarcoma" EXACT [NCIT:C4244] synonym: "IFS" RELATED ABBREVIATION [ONCOTREE:IFS] synonym: "infantile fibrosarcoma" EXACT [NCIT:C4244] synonym: "infantile fibrosarcoma (congenital fibrosarcoma)" EXACT [NCIT:C4244] synonym: "infantile fibrosarcoma (morphologic abnormality)" EXACT [DOID:8418] xref: DOID:8418 {source="MONDO:equivalentTo"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8814/3 {source="NCIT:C4244"} xref: NCIT:C4244 {source="MONDO:equivalentTo", source="DOID:8418"} xref: ONCOTREE:IFS {source="MONDO:equivalentTo"} xref: SCTID:403996004 {source="MONDO:equivalentTo", source="DOID:8418"} xref: UMLS:C0334459 {source="MONDO:equivalentTo", source="DOID:8418", source="NCIT:C4244"} is_a: MONDO:0002677 {source="NCIT:C4244"} ! conventional fibrosarcoma is_a: MONDO:0002678 {source="DOID:8418", source="NCIT:C4244"} ! pediatric fibrosarcoma relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch DOID:8418 property_value: exactMatch http://identifiers.org/snomedct/403996004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334459 property_value: exactMatch NCIT:C4244 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0004565 name: intestinal obstruction def: "Blockage of the normal flow of the intestinal contents within the bowel." [NCIT:P378] synonym: "bowel obstruction" EXACT [NCIT:C9175] xref: DOID:8437 {source="MONDO:equivalentTo"} xref: ICD9:560.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:560.9 {source="DOID:8437", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D007415 {source="DOID:8437", source="MONDO:equivalentTo"} xref: NCIT:C9175 {source="DOID:8437", source="MONDO:equivalentTo", source="MONDO:otherHierarchy"} xref: SCTID:81060008 {source="DOID:8437", source="MONDO:equivalentTo"} xref: UMLS:C0021843 {source="DOID:8437", source="MONDO:equivalentTo"} is_a: EFO:0009431 {source="DOID:8437", source="MESH:D007415"} ! intestinal disease property_value: exactMatch DOID:8437 property_value: exactMatch http://identifiers.org/mesh/D007415 property_value: exactMatch http://identifiers.org/snomedct/81060008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0021843 property_value: exactMatch NCIT:C9175 [Term] id: MONDO:0004566 name: postgastrectomy syndrome def: "Sequelae of gastrectomy from the second week after operation on. Include recurrent or anastomotic ulcer, postprandial syndromes (dumping syndrome and late postprandial hypoglycemia), disordered bowel action, and nutritional deficiencies." [MESH:D011178] synonym: "postgastric surgery syndrome" EXACT [DOID:8439] xref: DOID:8439 {source="MONDO:equivalentTo"} xref: ICD9:564.2 {source="DOID:8439", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D011178 {source="DOID:8439", source="MONDO:equivalentTo"} xref: SCTID:80193009 {source="DOID:8439", source="MONDO:equivalentTo"} xref: UMLS:C0032763 {source="DOID:8439", source="MONDO:equivalentTo"} is_a: EFO:0009431 {source="DOID:8439"} ! intestinal disease is_a: MONDO:0001318 {source="DOID:8439"} ! functional gastric disease property_value: exactMatch DOID:8439 property_value: exactMatch http://identifiers.org/mesh/D011178 property_value: exactMatch http://identifiers.org/snomedct/80193009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032763 [Term] id: MONDO:0004567 name: ileus def: "Decrease in peristalsis in the absence of a mechanical bowel obstruction." [NCIT:P378] synonym: "ileus of intestine" EXACT [DOID:8440] xref: DOID:8440 {source="MONDO:equivalentTo"} xref: MESH:D045823 {source="MONDO:equivalentTo", source="DOID:8440"} xref: NCIT:C37979 {source="MONDO:equivalentTo", source="DOID:8440"} xref: SCTID:710572000 {source="MONDO:equivalentTo"} xref: UMLS:C1258215 {source="MONDO:equivalentTo", source="DOID:8440", source="NCIT:C37979"} is_a: MONDO:0004565 {source="DOID:8440", source="MESH:D045823"} ! intestinal obstruction property_value: exactMatch DOID:8440 property_value: exactMatch http://identifiers.org/mesh/D045823 property_value: exactMatch http://identifiers.org/snomedct/710572000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1258215 property_value: exactMatch NCIT:C37979 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0004569 name: brachial plexus neuropathy from injury synonym: "brachial plexus lesion" EXACT [DOID:8443] synonym: "brachial plexus lesions" EXACT [DOID:8443] xref: DOID:8443 {source="MONDO:equivalentTo"} xref: ICD9:353.0 {source="DOID:8443"} xref: UMLS:C0006091 {source="MONDO:equivalentTo", source="DOID:8443"} is_a: EFO:1000844 {source="DOID:8443", source="MONDO:Redundant"} ! brachial plexus neuropathy intersection_of: EFO:1000844 ! brachial plexus neuropathy intersection_of: disease_arises_from_feature EFO:0000546 ! injury relationship: disease_arises_from_feature EFO:0000546 ! injury property_value: exactMatch DOID:8443 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006091 [Term] id: MONDO:0004571 name: intestinal impaction xref: DOID:8448 {source="MONDO:equivalentTo"} xref: ICD9:560.30 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:560.39 {source="DOID:8448", source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:62851005 {source="MONDO:equivalentTo"} is_a: MONDO:0004565 {source="DOID:8448"} ! intestinal obstruction property_value: exactMatch DOID:8448 property_value: exactMatch http://identifiers.org/snomedct/62851005 [Term] id: MONDO:0004573 name: ariboflavinosis def: "A dietary deficiency of riboflavin causing a syndrome chiefly marked by cheilitis, angular stomatitis, glossitis associated with a purplish red or magenta-colored tongue that may show fissures, corneal vascularization, dyssebacia, and anemia. (Dorland, 27th ed)" [MESH:D012257] synonym: "riboflavin deficiency" EXACT [OMIM:615026] synonym: "vitamin B2 deficiency" EXACT [DOID:8454] xref: DOID:8454 {source="MONDO:equivalentTo"} xref: ICD9:266.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8454"} xref: OMIM:615026 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/3272"} xref: SCTID:20307000 {source="MONDO:equivalentTo", source="DOID:8454"} is_a: EFO:1001067 {source="DOID:8454"} ! nutritional deficiency disease property_value: exactMatch DOID:8454 property_value: exactMatch http://identifiers.org/snomedct/20307000 property_value: exactMatch https://omim.org/entry/615026 [Term] id: MONDO:0004579 name: retinoschisis def: "An inherited or acquired disorder characterized by splitting of the retina into two layers. It results in loss of vision." [NCIT:P378] xref: DOID:8465 {source="MONDO:equivalentTo"} xref: ICD9:361.10 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8465"} xref: MESH:D041441 {source="MONDO:equivalentTo", source="DOID:8465"} xref: NCIT:C85046 {source="MONDO:equivalentTo", source="DOID:8465"} xref: SCTID:44268007 {source="MONDO:equivalentTo", source="DOID:8465"} xref: UMLS:C0152439 {source="MONDO:equivalentTo", source="NCIT:C85046", source="DOID:8465"} is_a: MONDO:0004580 {source="DOID:8465", source="MESH:D041441"} ! retinal degeneration property_value: exactMatch DOID:8465 property_value: exactMatch http://identifiers.org/mesh/D041441 property_value: exactMatch http://identifiers.org/snomedct/44268007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152439 property_value: exactMatch NCIT:C85046 [Term] id: MONDO:0004580 name: retinal degeneration def: "Degeneration of the retina." [NCIT:C34979] synonym: "degeneration of retina" EXACT [DOID:8466] synonym: "retina degeneration" EXACT [DOID:8466, MTH:649] synonym: "retina, Degeneration Of" EXACT [NCIT:C34979] xref: DOID:8466 {source="MONDO:equivalentTo"} xref: MESH:D012162 {source="MONDO:equivalentTo", source="DOID:8466"} xref: NCIT:C34979 {source="MONDO:equivalentTo", source="DOID:8466"} xref: SCTID:95695004 {source="MONDO:equivalentTo", source="DOID:8466"} is_a: EFO:0003839 {source="DOID:8466", source="MESH:D012162"} ! retinopathy property_value: exactMatch DOID:8466 property_value: exactMatch http://identifiers.org/mesh/D012162 property_value: exactMatch http://identifiers.org/snomedct/95695004 property_value: exactMatch NCIT:C34979 [Term] id: MONDO:0004582 name: rheumatic myocarditis def: "Inflammation of the myocardium in acute rheumatic heart disease." [NCIT:C35202] synonym: "active rheumatic fever with myocarditis" EXACT [DOID:8481] synonym: "acute rheumatic carditis" EXACT [DOID:8481] synonym: "acute rheumatic myocarditis" EXACT [DOID:8481, ICD9CM:391.2, NCIT:C35202] synonym: "acute rheumatic myocarditis (disorder) [ambiguous]" EXACT [DOID:8481] synonym: "rheumatic degeneration of myocardium" EXACT [DOID:8481] synonym: "rheumatic fever with myocarditis" EXACT [DOID:8481] synonym: "rheumatic myocarditis" EXACT [DOID:8481, ICD9CM:398.0] synonym: "rheumatoid myocarditis" EXACT [DOID:8481] xref: DOID:8481 {source="MONDO:equivalentTo"} xref: ICD9:391.9 {source="DOID:8481"} xref: ICD9:398.0 {source="DOID:8481"} xref: NCIT:C35202 {source="MONDO:equivalentTo"} xref: SCTID:195136004 {source="MONDO:equivalentTo", source="DOID:8481"} xref: UMLS:C0155557 {source="MONDO:equivalentTo"} is_a: EFO:0009609 ! myocarditis is_a: EFO:1001161 {source="DOID:8481", source="NCIT:C35202/inferred"} ! rheumatic heart disease intersection_of: EFO:0009609 ! myocarditis intersection_of: disease_arises_from_feature EFO:0000685 ! rheumatoid arthritis relationship: disease_arises_from_feature EFO:0000685 ! rheumatoid arthritis property_value: exactMatch DOID:8481 property_value: exactMatch http://identifiers.org/snomedct/195136004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155557 property_value: exactMatch NCIT:C35202 [Term] id: MONDO:0004586 name: rheumatoid lung disease def: "Rheumatoid lung disease is a group of lung problems related to rheumatoid arthritis." [https://medlineplus.gov/ency/article/000113.htm, PMID:17684286] synonym: "rheumatoid lung" EXACT [DOID:849] xref: DOID:849 {source="MONDO:equivalentTo"} xref: ICD9:714.81 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:849"} xref: SCTID:398726004 {source="MONDO:equivalentTo", source="DOID:849"} xref: UMLS:C0994344 {source="MONDO:equivalentTo"} is_a: EFO:0003818 {source="DOID:849", source="MONDO:Redundant"} ! lung disease is_a: EFO:0005809 {source="DOID:849", source="MONDO:Redundant"} ! type II hypersensitivity reaction disease intersection_of: EFO:0003818 ! lung disease intersection_of: disease_arises_from_feature EFO:0000685 ! rheumatoid arthritis relationship: disease_arises_from_feature EFO:0000685 ! rheumatoid arthritis property_value: exactMatch DOID:849 property_value: exactMatch http://identifiers.org/snomedct/398726004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0994344 [Term] id: MONDO:0004587 name: hereditary night blindness def: "An instance of night blindness that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] synonym: "congenital night blindness" EXACT [DOID:8498, ICD9CM:368.61] synonym: "hereditary night blindness" EXACT [MONDO:patterns/hereditary] synonym: "Oguchi's disease" BROAD [DOID:8498] xref: DOID:8498 {source="MONDO:equivalentTo"} xref: ICD9:368.61 {source="MONDO:directSiblingOf", source="DOID:8498"} xref: MESH:C537743 {source="MONDO:relatedTo", source="DOID:8498"} xref: SCTID:193687000 {source="MONDO:equivalentTo", source="DOID:8498"} is_a: EFO:0000508 {source="MONDO:Redundant"} ! genetic disorder is_a: MONDO:0004588 {source="DOID:8498", source="MONDO:Redundant"} ! night blindness intersection_of: MONDO:0004588 ! night blindness intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch DOID:8498 property_value: exactMatch http://identifiers.org/snomedct/193687000 [Term] id: MONDO:0004588 name: night blindness def: "Inability to see clearly in dim light." [NCIT:P378] synonym: "nyctalopia" EXACT [NCIT:C34850] xref: DOID:8499 {source="MONDO:equivalentTo"} xref: ICD10CM:H53.6 {source="MONDO:equivalentTo", source="DOID:8499"} xref: ICD9:368.6 {source="DOID:8499"} xref: ICD9:368.60 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8499"} xref: ICD9:368.69 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D009755 {source="MONDO:equivalentTo", source="DOID:8499"} xref: NCIT:C34850 {source="MONDO:equivalentTo", source="DOID:8499"} xref: SCTID:65194006 {source="MONDO:equivalentTo", source="DOID:8499"} xref: UMLS:C0028077 {source="MONDO:equivalentTo", source="NCIT:C34850", source="DOID:8499"} is_a: EFO:0003839 {source="DOID:8499", source="MONDO:Redundant"} ! retinopathy is_a: MONDO:0001941 {source="NCIT:C34850"} ! blindness (disorder) property_value: exactMatch DOID:8499 property_value: exactMatch http://identifiers.org/mesh/D009755 property_value: exactMatch http://identifiers.org/snomedct/65194006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0028077 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H53.6 property_value: exactMatch NCIT:C34850 [Term] id: MONDO:0004593 name: Bartholin duct cyst def: "Distension of the Bartholin gland duct caused by an accumulation of mucus in the duct, usually as a result of obstruction of the gland duct orifice." [NCIT:P378] synonym: "Bartholin's cyst" EXACT [DOID:851, NCIT:C26706] synonym: "Bartholin's duct cyst" EXACT [DOID:851] synonym: "cyst of Bartholin's gland" EXACT [DOID:851] synonym: "cyst of Bartholin's gland duct" EXACT [DOID:851] xref: DOID:851 {source="MONDO:equivalentTo"} xref: ICD10CM:N75.0 {source="MONDO:equivalentTo", source="DOID:851"} xref: ICD9:616.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:851"} xref: SCTID:57044006 {source="MONDO:equivalentTo", source="DOID:851"} xref: UMLS:C0004767 {source="MONDO:equivalentTo", source="DOID:851"} is_a: EFO:0009549 {source="DOID:851"} ! female reproductive system disease is_a: EFO:0010285 ! integumentary system disease property_value: exactMatch DOID:851 property_value: exactMatch http://identifiers.org/snomedct/57044006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004767 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/N75.0 [Term] id: MONDO:0004596 name: cor pulmonale def: "Hypertrophy and dilation of the right ventricle of the heart that is caused by pulmonary hypertension. This condition is often associated with pulmonary parenchymal or vascular diseases, such as chronic obstructive pulmonary disease and pulmonary embolism." [MESH:D011660] synonym: "cardiopulmonary disease" EXACT [DOID:8515] synonym: "cor pulmonale" EXACT [MESH:D011660] synonym: "disease, pulmonary heart" RELATED [MESH:D011660] synonym: "diseases, pulmonary heart" RELATED [MESH:D011660] synonym: "heart disease, pulmonary" RELATED [MESH:D011660] synonym: "heart diseases, pulmonary" RELATED [MESH:D011660] synonym: "pulmonary heart disease" EXACT [DOID:8515, https://en.wikipedia.org/wiki/Pulmonary_heart_disease] synonym: "pulmonary heart diseases" RELATED [MESH:D011660] xref: DOID:8515 {source="MONDO:equivalentTo"} xref: ICD10CM:I27.81 {source="DOID:8515", source="MONDO:equivalentTo"} xref: MESH:D011660 {source="DOID:8515", source="MONDO:equivalentTo"} xref: SCTID:274096000 {source="DOID:8515", source="MONDO:equivalentTo"} xref: UMLS:C0034072 {source="DOID:8515", source="MONDO:equivalentTo"} is_a: EFO:0000373 {source="DOID:8515"} ! congestive heart failure property_value: exactMatch DOID:8515 property_value: exactMatch http://identifiers.org/mesh/D011660 property_value: exactMatch http://identifiers.org/snomedct/274096000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034072 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/I27.81 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0004600 name: monocytic leukemia synonym: "schilling's leukaemia" EXACT OMO:0003005 [] synonym: "schilling's leukemia" EXACT [DOID:8527] xref: DOID:8527 {source="MONDO:equivalentTo"} xref: ICD9:206.8 {source="DOID:8527"} xref: ICD9:206.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:206.81 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:206.90 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:206.91 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:188744006 {source="MONDO:equivalentTo"} is_a: EFO:0000565 {source="DOID:8527/inferred"} ! leukemia property_value: exactMatch DOID:8527 property_value: exactMatch http://identifiers.org/snomedct/188744006 [Term] id: MONDO:0004603 name: collagenopathy is_a: EFO:1001986 {source="https://orcid.org/0000-0001-5208-3432"} ! connective tissue disease [Term] id: MONDO:0004617 name: recurrent hypersomnia def: "Disorders characterized by hypersomnolence during normal waking hours that may impair cognitive functioning. Subtypes include primary hypersomnia disorders (e.g., idiopathic hypersomnolence; narcolepsy; and kleine-levin syndrome) and secondary hypersomnia disorders where excessive somnolence can be attributed to a known cause (e.g., drug affect, mental disorders, and sleep apnea syndrome). (From J Neurol Sci 1998 Jan 8;153(2):192-202; Thorpy, Principles and Practice of Sleep Medicine, 2nd ed, p320)" [MESH:D006970] synonym: "primary recurrent hypersomnia" EXACT [DOID:8619] xref: DOID:8619 {source="MONDO:equivalentTo"} xref: ICD10CM:G47.13 {source="MONDO:equivalentTo", source="DOID:8619"} xref: ICD9:327.13 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8619"} xref: SCTID:426451004 {source="MONDO:equivalentTo", source="DOID:8619"} xref: UMLS:C0751226 {source="MONDO:equivalentTo", source="DOID:8619"} is_a: MONDO:0003406 {source="DOID:8619", source="ICD10CM:G47.13", source="ICD10CM:G47.13/inferred"} ! sleep-wake disorder property_value: exactMatch DOID:8619 property_value: exactMatch http://identifiers.org/snomedct/426451004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751226 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G47.13 [Term] id: MONDO:0004618 name: diplegia of upper limb synonym: "diplegia of upper limbs" EXACT [DOID:862] synonym: "diplegia, upper" EXACT [DOID:862] xref: DOID:862 {source="MONDO:equivalentTo"} xref: ICD9:344.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:862"} xref: SCTID:54099005 {source="MONDO:equivalentTo", source="DOID:862"} xref: UMLS:C0154701 {source="MONDO:equivalentTo", source="DOID:862"} is_a: EFO:0000618 {source="DOID:862"} ! nervous system disease property_value: exactMatch DOID:862 property_value: exactMatch http://identifiers.org/snomedct/54099005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154701 [Term] id: MONDO:0004627 name: duodenitis def: "Acute or chronic inflammation of the duodenum. Causes include bacterial and viral infections and gastroesophageal reflux disease. Symptoms include vomiting and abdominal pain." [NCIT:P378] synonym: "duodenitis" EXACT [] synonym: "duodenum inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "hemorrhagic duodenitis" NARROW [DOID:8643, MTH:NOCODE] synonym: "inflammation of duodenum" EXACT [] xref: DOID:8643 {source="MONDO:equivalentTo"} xref: ICD10CM:K29.8 {source="DOID:8643", source="MONDO:equivalentTo"} xref: ICD9:535.6 {source="DOID:8643"} xref: ICD9:535.60 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D004382 {source="DOID:8643", source="MONDO:equivalentTo"} xref: NCIT:C94409 {source="DOID:8643", source="MONDO:equivalentTo"} xref: SCTID:72007001 {source="DOID:8643", source="MONDO:equivalentTo"} xref: UMLS:C0013298 {source="DOID:8643", source="MONDO:equivalentTo", source="NCIT:C94409"} is_a: MONDO:0002866 {source="MESH:D004382", source="MONDO:Redundant"} ! duodenal disorder is_a: MONDO:0043579 ! enteritis property_value: exactMatch DOID:8643 property_value: exactMatch http://identifiers.org/mesh/D004382 property_value: exactMatch http://identifiers.org/snomedct/72007001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013298 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K29.8 property_value: exactMatch NCIT:C94409 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0004630 name: substance-induced psychosis xref: DOID:8646 {source="MONDO:equivalentTo"} xref: ICD9:293.89 {source="DOID:8646"} is_a: EFO:0005407 {source="DOID:8646", source="MONDO:cjm"} ! psychosis property_value: exactMatch DOID:8646 [Term] id: MONDO:0004634 name: vein disorder def: "A disease involving the vein." [https://orcid.org/0000-0002-6601-2165] synonym: "disease of vein" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of vein" EXACT [] synonym: "disorder of vein" EXACT [MONDO:patterns/location_top] synonym: "vein disease" EXACT [MONDO:patterns/location] synonym: "vein disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:866 {source="MONDO:equivalentTo"} xref: ICD9:453 {source="DOID:866"} xref: NCIT:C35279 {source="MONDO:equivalentTo"} xref: SCTID:90507008 {source="MONDO:equivalentTo"} xref: UMLS:C0235522 {source="MONDO:equivalentTo"} is_a: EFO:0004264 {source="DOID:866", source="MONDO:Redundant"} ! vascular disease property_value: exactMatch DOID:866 property_value: exactMatch http://identifiers.org/snomedct/90507008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0235522 property_value: exactMatch NCIT:C35279 [Term] id: MONDO:0004640 name: alcoholic gastritis def: "Inflammation of the stomach resulting from alcohol ingestion." [NCIT:C26977] synonym: "alcoholic gastritis" EXACT [DOID:8680, NCIT:C26977] synonym: "alcoholic gastritis, with haemorrhage" EXACT OMO:0003005 [] synonym: "alcoholic gastritis, with hemorrhage" EXACT [DOID:8680] synonym: "alcoholic gastritis, without mention of haemorrhage" EXACT OMO:0003005 [] synonym: "alcoholic gastritis, without mention of hemorrhage" EXACT [DOID:8680] xref: DOID:8680 {source="MONDO:equivalentTo"} xref: ICD10CM:K29.2 {source="MONDO:equivalentTo", source="DOID:8680"} xref: ICD9:535.3 {source="DOID:8680"} xref: ICD9:535.30 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C26977 {source="MONDO:equivalentTo", source="DOID:8680"} xref: SCTID:2043009 {source="MONDO:equivalentTo", source="DOID:8680"} xref: UMLS:C0156076 {source="MONDO:equivalentTo", source="DOID:8680", source="NCIT:C26977"} is_a: EFO:0000217 {source="DOID:8680", source="MONDO:Redundant", source="NCIT:C26977"} ! gastritis property_value: exactMatch DOID:8680 property_value: exactMatch http://identifiers.org/snomedct/2043009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156076 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K29.2 property_value: exactMatch NCIT:C26977 [Term] id: MONDO:0004641 name: skin carcinoma in situ def: "A in situ carcinoma that involves the zone of skin." [MONDO:patterns/location] synonym: "carcinoma in situ of skin" EXACT [DOID:8687, ICD9CM:232, NCIT:C3640] synonym: "carcinoma in situ of the skin" EXACT [NCIT:C3640] synonym: "carcinoma in situ of zone of skin" EXACT [MONDO:patterns/carcinoma_in_situ] synonym: "carcinoma of skin stage 0" EXACT [NCIT:C3640] synonym: "carcinoma of the skin stage 0" EXACT [NCIT:C3640] synonym: "cutaneous carcinoma in situ" EXACT [DOID:8687, NCIT:C3640] synonym: "nonmelanoma carcinoma in situ" EXACT [NCIT:C3640] synonym: "skin cancer stage 0" EXACT [NCIT:C3640] synonym: "skin carcinoma in situ" EXACT [NCIT:C3640] synonym: "skin carcinoma stage 0" EXACT [NCIT:C3640] synonym: "stage 0 nonmelanoma skin carcinoma in situ" EXACT [NCIT:C3640] synonym: "stage 0 skin cancer" EXACT [NCIT:C3640] synonym: "stage 0 skin cancer aJCC v6" EXACT [NCIT:C3640] synonym: "stage 0 skin cancer aJCC v7" EXACT [NCIT:C3640] synonym: "stage 0 skin carcinoma" EXACT [NCIT:C3640] synonym: "stage 0 zone of skin carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ] synonym: "zone of skin carcinoma in situ" EXACT [] synonym: "zone of skin in situ carcinoma" EXACT [MONDO:patterns/location] xref: DOID:8687 {source="MONDO:equivalentTo"} xref: ICD10CM:D04 {source="DOID:8687", source="MONDO:equivalentTo"} xref: ICD9:232 {source="DOID:8687"} xref: ICD9:232.0 {source="DOID:8687"} xref: ICD9:232.2 {source="DOID:8687"} xref: ICD9:232.3 {source="DOID:8687"} xref: ICD9:232.4 {source="DOID:8687"} xref: ICD9:232.5 {source="DOID:8687"} xref: ICD9:232.6 {source="DOID:8687"} xref: ICD9:232.7 {source="DOID:8687"} xref: ICD9:232.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:232.9 {source="DOID:8687", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3640 {source="DOID:8687", source="MONDO:equivalentTo"} xref: SCTID:92749008 {source="DOID:8687", source="MONDO:equivalentTo"} xref: UMLS:C0154073 {source="DOID:8687", source="MONDO:equivalentTo", source="NCIT:C3640"} is_a: EFO:0009259 {source="MONDO:Redundant", source="NCIT:C3640"} ! skin carcinoma is_a: MONDO:0004647 {source="DOID:8687", source="MONDO:Redundant", source="NCIT:C3640"} ! in situ carcinoma property_value: exactMatch DOID:8687 property_value: exactMatch http://identifiers.org/snomedct/92749008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154073 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D04 property_value: exactMatch NCIT:C3640 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0004643 name: myeloid leukemia def: "A clonal proliferation of myeloid cells and their precursors in the bone marrow, peripheral blood, and spleen. When the proliferating cells are immature myeloid cells and myeloblasts, it is called acute myeloid leukemia. When the proliferating myeloid cells are neutrophils, it is called chronic myelogenous leukemia." [NCIT:C3172] subset: gard_rare {source="GARD:0008226"} synonym: "leukaemia granulocytic" EXACT OMO:0003005 [] synonym: "leukaemia myelogenous" EXACT OMO:0003005 [] synonym: "leukaemia myeloid" EXACT OMO:0003005 [] synonym: "leukemia granulocytic" EXACT [NCIT:C3172] synonym: "leukemia myelogenous" EXACT [DOID:8692, MTH:NOCODE] synonym: "leukemia myeloid" EXACT [NCIT:C3172] synonym: "leukemia, granulocytic, malignant" EXACT [NCIT:C3172] synonym: "myelocytic leukaemia" EXACT OMO:0003005 [] synonym: "myelocytic leukemia" EXACT [NCIT:C3172] synonym: "myelogenous leukaemia" EXACT OMO:0003005 [] synonym: "myelogenous leukemia" EXACT [NCIT:C3172] synonym: "myeloid granulocytic leukaemia" EXACT OMO:0003005 [] synonym: "myeloid granulocytic leukemia" EXACT [DOID:8692] synonym: "myeloid leukemia" EXACT [NCIT:C3172] synonym: "non-lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "non-lymphoblastic leukemia" EXACT [NCIT:C3172] synonym: "non-lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "non-lymphocytic leukemia" EXACT [DOID:8692, NCIT:C3172] xref: DOID:8692 {source="MONDO:equivalentTo"} xref: ICD9:205 {source="DOID:8692"} xref: ICD9:205.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:205.9 {source="DOID:8692"} xref: ICD9:205.90 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICDO:9860/3 {source="NCIT:C3172"} xref: MESH:D007951 {source="MONDO:equivalentTo", source="DOID:8692"} xref: NCIT:C3172 {source="MONDO:equivalentTo", source="DOID:8692", source="MONDO:exact-label-match"} xref: SCTID:188732008 {source="MONDO:equivalentTo", source="DOID:8692"} xref: UMLS:C0023470 {source="NCIT:C3172", source="MONDO:equivalentTo", source="DOID:8692"} is_a: EFO:0000565 {source="DOID:8692", source="MESH:D007951", source="NCIT:C3172"} ! leukemia is_a: EFO:0002428 ! chronic myeloproliferative disorder property_value: exactMatch DOID:8692 property_value: exactMatch http://identifiers.org/mesh/D007951 property_value: exactMatch http://identifiers.org/snomedct/188732008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023470 property_value: exactMatch NCIT:C3172 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8226/myeloid-leukemia xsd:anyURI {source="GARD:0008226"} [Term] id: MONDO:0004647 name: in situ carcinoma def: "A malignant epithelial neoplasm which is confined to the epithelial layer without evidence of further tissue invasion." [NCIT:C2917] comment: Editor note: check pre-malignant vs malignant synonym: "carcinoma in situ" EXACT [NCIT:C2917] synonym: "carcinoma, in situ, malignant" EXACT [NCIT:C2917] synonym: "CIS" BROAD ABBREVIATION [NCIT:C2917] synonym: "epithelial tumor, in situ, malignant" EXACT [NCIT:C2917] synonym: "intraepithelial carcinoma" EXACT [NCIT:C2917] synonym: "non-invasive carcinoma" EXACT [NCIT:C2917] synonym: "stage 0 disease" EXACT [NCIT:C2917] xref: DOID:8719 {source="MONDO:equivalentTo"} xref: ICD9:230-234.99 {source="DOID:8719"} xref: ICD9:234.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:234.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8719"} xref: ICDO:8010/2 {source="NCIT:C2917"} xref: MESH:D002278 {source="MONDO:equivalentTo", source="DOID:8719"} xref: NCIT:C2917 {source="MONDO:equivalentTo", source="DOID:8719", source="MONDO:exact-label-match"} xref: SCTID:109355002 {source="MONDO:equivalentTo", source="DOID:8719"} xref: UMLS:C0007099 {source="MONDO:equivalentTo", source="DOID:8719"} is_a: EFO:0000313 {source="MESH:D002278", source="MONDO:Redundant", source="NCIT:C2917"} ! carcinoma is_a: MONDO:0020665 ! high grade malignant neoplasm is_a: MONDO:0021074 {source="MONDO:Redundant", source="NCIT:C2917"} ! precancerous condition relationship: has_characteristic MONDO:0024493 {source="NCIT:C2917"} ! tumor grade 3, general grading system property_value: exactMatch DOID:8719 property_value: exactMatch http://identifiers.org/mesh/D002278 property_value: exactMatch http://identifiers.org/snomedct/109355002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007099 property_value: exactMatch NCIT:C2917 property_value: excluded_subClassOf MONDO:0000611 {source="DOID:8719"} property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0004649 name: anaerobic pneumonia def: "A pneumonia caused by anaerobic bacteria." [https://orcid.org/0000-0002-6601-2165] synonym: "pneumonia caused by anaerobic bacteria" RELATED [] synonym: "pneumonia due to anaerobes" EXACT [DOID:873] synonym: "pneumonia due to anaerobic bacteria" EXACT [] xref: DOID:873 {source="MONDO:equivalentTo"} xref: ICD9:482.81 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:873"} xref: ICD9:482.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:409664000 {source="MONDO:equivalentTo"} xref: UMLS:C1443976 {source="MONDO:equivalentTo"} is_a: EFO:1001272 {source="DOID:873/inferred", source="MONDO:Redundant"} ! bacterial pneumonia is_a: MONDO:0024389 ! anaerobic bacteria infectious disease intersection_of: EFO:0003106 ! pneumonia intersection_of: MONDO:0024389 ! anaerobic bacteria infectious disease property_value: exactMatch DOID:873 property_value: exactMatch http://identifiers.org/snomedct/409664000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1443976 property_value: excluded_subClassOf MONDO:0000265 {source="DOID:873"} [Term] id: MONDO:0004651 name: smallpox def: "A condition that is caused by infection with Variola, and that is characterized by small, raised bumps." [NCIT:P378] subset: gard_rare {source="GARD:0007444"} synonym: "ordinary smallpox" EXACT [DOID:8736] synonym: "smallpox virus infection" RELATED [NCIT:C96527] synonym: "Variola" RELATED [GARD:0007444] synonym: "Variola virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Variola virus disease or disorder" EXACT [] synonym: "variola virus infection" RELATED [NCIT:C96527] synonym: "Variola virus infectious disease" EXACT [] synonym: "variola virus VAR infection" RELATED [NCIT:C96527] xref: DOID:8736 {source="MONDO:equivalentTo"} xref: ICD10CM:B03 {source="DOID:8736", source="MONDO:equivalentTo"} xref: ICD9:050 {source="DOID:8736"} xref: ICD9:050.9 {source="DOID:8736", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D012899 {source="DOID:8736", source="MONDO:equivalentTo"} xref: NCIT:C35027 {source="DOID:8736", source="MONDO:equivalentTo"} xref: SCTID:67924001 {source="DOID:8736", source="MONDO:equivalentTo"} xref: UMLS:C0037354 {source="DOID:8736", source="MONDO:equivalentTo", source="NCIT:C35027"} is_a: MONDO:0100329 ! primary viral infectious disease property_value: exactMatch DOID:8736 property_value: exactMatch http://identifiers.org/mesh/D012899 property_value: exactMatch http://identifiers.org/snomedct/67924001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037354 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B03 property_value: exactMatch NCIT:C35027 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7444/smallpox xsd:anyURI {source="GARD:0007444"} [Term] id: MONDO:0004657 name: disseminated chorioretinitis xref: DOID:8787 {source="MONDO:equivalentTo"} xref: ICD9:363.1 {source="DOID:8787"} xref: ICD9:363.10 {source="DOID:8787", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:78769001 {source="DOID:8787", source="MONDO:equivalentTo"} xref: UMLS:C0154879 {source="DOID:8787", source="MONDO:equivalentTo"} is_a: MONDO:0004674 {source="DOID:8787", source="MONDO:Redundant"} ! chorioretinitis intersection_of: MONDO:0004674 ! chorioretinitis intersection_of: has_characteristic MONDO:0022202 ! disseminated relationship: has_characteristic MONDO:0022202 ! disseminated property_value: exactMatch DOID:8787 property_value: exactMatch http://identifiers.org/snomedct/78769001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154879 [Term] id: MONDO:0004658 name: breast carcinoma in situ def: "A in situ carcinoma that involves the breast." [MONDO:patterns/location] synonym: "breast cancer in situ" EXACT [NCIT:C3641] synonym: "breast cancer stage 0" EXACT [NCIT:C3641] synonym: "breast carcinoma in situ" EXACT [NCIT:C3641] synonym: "breast in situ carcinoma" EXACT [MONDO:patterns/location] synonym: "carcinoma in situ of breast" EXACT [DOID:8791, MONDO:patterns/carcinoma_in_situ, NCIT:C3641] synonym: "carcinoma in situ of the breast" EXACT [NCIT:C3641] synonym: "in situ breast cancer" EXACT [NCIT:C3641] synonym: "non-infiltrating breast carcinoma" EXACT [NCIT:C3641] synonym: "non-infiltrating carcinoma of breast" EXACT [DOID:8791, NCIT:C3641] synonym: "non-infiltrating carcinoma of the breast" EXACT [NCIT:C3641] synonym: "non-invasive breast carcinoma" EXACT [NCIT:C3641] synonym: "non-invasive carcinoma of breast" EXACT [NCIT:C3641] synonym: "non-invasive carcinoma of the breast" EXACT [NCIT:C3641] synonym: "stage 0 breast cancer" EXACT [NCIT:C3641] synonym: "stage 0 breast cancer aJCC v6" EXACT [NCIT:C3641] synonym: "stage 0 breast cancer aJCC v6 and v7" EXACT [NCIT:C3641] synonym: "stage 0 breast cancer aJCC v7" EXACT [NCIT:C3641] synonym: "stage 0 breast carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C3641] synonym: "stage 0 breast carcinoma in situ" EXACT [NCIT:C3641] synonym: "stage 0 carcinoma of breast" EXACT [NCIT:C3641] synonym: "stage 0 carcinoma of the breast" EXACT [NCIT:C3641] xref: DOID:8791 {source="MONDO:equivalentTo"} xref: ICD9:233.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8791"} xref: MESH:D000071960 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: NCIT:C3641 {source="MONDO:equivalentTo", source="DOID:8791"} xref: SCTID:189336000 {source="MONDO:equivalentTo", source="DOID:8791"} xref: UMLS:C0154084 {source="MONDO:equivalentTo", source="NCIT:C3641", source="DOID:8791"} is_a: EFO:0000305 ! breast carcinoma is_a: MONDO:0004647 {source="DOID:8791", source="MONDO:Redundant", source="NCIT:C3641"} ! in situ carcinoma property_value: exactMatch DOID:8791 property_value: exactMatch http://identifiers.org/mesh/D000071960 property_value: exactMatch http://identifiers.org/snomedct/189336000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154084 property_value: exactMatch NCIT:C3641 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0004663 name: colon carcinoma in situ def: "A in situ carcinoma that involves the colon." [MONDO:patterns/location] synonym: "carcinoma in situ of colon" EXACT [DOID:8826, MONDO:patterns/carcinoma_in_situ, NCIT:C3638] synonym: "carcinoma in situ of the colon" EXACT [NCIT:C3638] synonym: "colon cancer stage 0" EXACT [NCIT:C3638] synonym: "colon carcinoma in situ" EXACT [NCIT:C3638] synonym: "colon in situ carcinoma" EXACT [MONDO:patterns/location] synonym: "colonic carcinoma in situ" EXACT [NCIT:C3638] synonym: "stage 0 carcinoma of colon" EXACT [NCIT:C3638] synonym: "stage 0 carcinoma of the colon" EXACT [NCIT:C3638] synonym: "stage 0 colon cancer" EXACT [NCIT:C3638] synonym: "stage 0 colon cancer aJCC v6" EXACT [NCIT:C3638] synonym: "stage 0 colon cancer aJCC v6 and v7" EXACT [NCIT:C3638] synonym: "stage 0 colon cancer aJCC v7" EXACT [NCIT:C3638] synonym: "stage 0 colon carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C3638] synonym: "stage 0 colonic carcinoma" EXACT [DOID:8826, NCIT:C3638] xref: DOID:8826 {source="MONDO:equivalentTo"} xref: ICD10CM:D01.0 {source="DOID:8826", source="MONDO:equivalentTo"} xref: ICD9:230.3 {source="DOID:8826", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3638 {source="DOID:8826", source="MONDO:equivalentTo"} xref: SCTID:92568009 {source="DOID:8826", source="MONDO:equivalentTo"} xref: UMLS:C0154061 {source="NCIT:C3638", source="DOID:8826", source="MONDO:equivalentTo"} is_a: EFO:1001950 ! colon carcinoma is_a: MONDO:0004698 {source="DOID:8826", source="MONDO:Redundant"} ! intestine carcinoma in situ property_value: exactMatch DOID:8826 property_value: exactMatch http://identifiers.org/snomedct/92568009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154061 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D01.0 property_value: exactMatch NCIT:C3638 [Term] id: MONDO:0004669 name: salivary gland cancer def: "A primary or metastatic malignant neoplasm that affects the major or minor salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma." [NCIT:C3811] synonym: "cancer of saliva-secreting gland" EXACT [MONDO:patterns/cancer] synonym: "cancer of salivary gland" EXACT [NCIT:C3811] synonym: "cancer of the salivary gland" EXACT [NCIT:C3811] synonym: "malignant neoplasm of major salivary gland" NARROW [DOID:8850] synonym: "malignant neoplasm of saliva-secreting gland" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of salivary gland" EXACT [NCIT:C3811] synonym: "malignant neoplasm of salivary gland duct" EXACT [DOID:8850] synonym: "malignant neoplasm of the salivary gland" EXACT [NCIT:C3811] synonym: "malignant saliva-secreting gland neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant salivary gland neoplasm" EXACT [NCIT:C3811] synonym: "malignant salivary gland tumor" EXACT [NCIT:C3811] synonym: "malignant salivary gland tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of salivary gland" EXACT [NCIT:C3811] synonym: "malignant tumor of the salivary gland" EXACT [NCIT:C3811] synonym: "malignant tumour of salivary gland" EXACT OMO:0003005 [] synonym: "malignant tumour of the major salivary gland" NARROW OMO:0003005 [] synonym: "malignant tumour of the salivary gland" EXACT OMO:0003005 [] synonym: "saliva-secreting gland cancer" EXACT [] synonym: "salivary gland cancer" EXACT [NCIT:C3811] xref: DOID:8850 {source="MONDO:equivalentTo"} xref: ICD10CM:C08 {source="MONDO:equivalentTo", source="DOID:8850"} xref: ICD9:142.8 {source="DOID:8850"} xref: MESH:D012468 {source="MONDO:equivalentTo"} xref: NCIT:C3811 {source="MONDO:equivalentTo"} xref: SCTID:255072001 {source="MONDO:equivalentTo"} is_a: EFO:0005570 {source="DOID:8850"} ! oral cavity cancer is_a: EFO:1000384 {source="MONDO:Redundant", source="NCIT:C3811"} ! Mixed Tumor of the Salivary Gland property_value: exactMatch DOID:8850 property_value: exactMatch http://identifiers.org/mesh/D012468 property_value: exactMatch http://identifiers.org/snomedct/255072001 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/C08 property_value: exactMatch NCIT:C3811 [Term] id: MONDO:0004670 name: lupus erythematosus def: "An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus." [NCIT:C27153] synonym: "lupus" EXACT [DOID:8857, NCIT:C27153] synonym: "lupus erythematosus" EXACT [NCIT:C27153] xref: DOID:8857 {source="MONDO:equivalentTo"} xref: ICD10CM:L93 {source="DOID:8857", source="MONDO:equivalentTo"} xref: ICD9:695.4 {source="DOID:8857", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C27153 {source="DOID:8857", source="MONDO:equivalentTo"} xref: SCTID:200936003 {source="DOID:8857", source="MONDO:equivalentTo"} xref: UMLS:C0409974 {source="NCIT:C27153", source="DOID:8857", source="MONDO:equivalentTo"} is_a: EFO:0005755 {source="NCIT:C27153"} ! rheumatic disease is_a: EFO:0005809 {source="DOID:8857", source="MONDO:Redundant", source="NCIT:C27153"} ! type II hypersensitivity reaction disease property_value: exactMatch DOID:8857 property_value: exactMatch http://identifiers.org/snomedct/200936003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0409974 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L93 property_value: exactMatch NCIT:C27153 [Term] id: MONDO:0004671 name: penis carcinoma in situ def: "A in situ carcinoma that involves the penis." [MONDO:patterns/location] synonym: "Bowen disease of the penis" EXACT [NCIT:C27790] synonym: "Bowen's disease of penis" EXACT [DOID:8872, NCIT:C27790] synonym: "Bowen's disease of the penis" EXACT [NCIT:C27790] synonym: "carcinoma in situ of penis" EXACT [DOID:8872, MONDO:patterns/carcinoma_in_situ, NCIT:C27790] synonym: "carcinoma in situ of the penis" EXACT [NCIT:C27790] synonym: "erythroplasia of Queyrat" EXACT [NCIT:C27790] synonym: "grade III penile intraepithelial neoplasia" EXACT [NCIT:C27790] synonym: "grade III squamous intraepithelial lesion of penis" EXACT [DOID:8872, NCIT:C27790] synonym: "grade III squamous intraepithelial lesion of the penis" EXACT [NCIT:C27790] synonym: "penile carcinoma in situ" EXACT [NCIT:C27790] synonym: "penile carcinoma in situ aJCC v7" EXACT [NCIT:C27790] synonym: "penile intraepithelial neoplasia grade III" EXACT [DOID:8872] synonym: "penis in situ carcinoma" EXACT [MONDO:patterns/location] synonym: "Queyrat erythroplasia" EXACT [NCIT:C27790] synonym: "Queyrat's erythroplasia" EXACT [DOID:8872, NCIT:C27790] synonym: "stage 0 penile carcinoma in situ" EXACT [NCIT:C27790] synonym: "stage 0 penis carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ] xref: DOID:8872 {source="MONDO:equivalentTo"} xref: ICD9:233.5 {source="DOID:8872"} xref: ICDO:8080/2 {source="NCIT:C27790"} xref: NCIT:C27790 {source="MONDO:equivalentTo", source="DOID:8872"} xref: SCTID:398768004 {source="MONDO:relatedTo", source="DOID:8872"} xref: SCTID:398831006 {source="MONDO:equivalentTo", source="DOID:8872"} xref: UMLS:C0154089 {source="MONDO:equivalentTo", source="NCIT:C27790", source="DOID:8872"} is_a: MONDO:0004693 {source="MONDO:Redundant", source="NCIT:C27790"} ! squamous carcinoma in situ is_a: MONDO:0018352 {source="MONDO:Redundant", source="NCIT:C27790"} ! squamous cell carcinoma of penis property_value: exactMatch DOID:8872 property_value: exactMatch http://identifiers.org/snomedct/398831006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154089 property_value: exactMatch NCIT:C27790 [Term] id: MONDO:0004674 name: chorioretinitis def: "Inflammation of the distal posterior uveal tract (choroid) and its structural and vascular attachments to the retina. It is usually caused by infection and though rare, it is clinically significant due to its most serious sequela: loss of vision." [NCIT:P378] synonym: "chorioretinitis" EXACT [MONDO:ambiguous] synonym: "chorioretinitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "retinochoroiditis" EXACT [DOID:8886] xref: DOID:8886 {source="MONDO:equivalentTo"} xref: HP:0012424 {source="MONDO:otherHierarchy"} xref: ICD9:363.20 {source="DOID:8886", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D002825 {source="DOID:8886", source="MONDO:equivalentTo"} xref: NCIT:C110923 {source="DOID:8886", source="MONDO:equivalentTo"} xref: SCTID:46627006 {source="DOID:8886", source="MONDO:equivalentTo"} xref: UMLS:C0008513 {source="DOID:8886", source="NCIT:C110923", source="MONDO:equivalentTo"} is_a: EFO:1001231 {source="MESH:D002825/inferred", source="NCIT:C110923"} ! uveitis property_value: exactMatch DOID:8886 property_value: exactMatch http://identifiers.org/mesh/D002825 property_value: exactMatch http://identifiers.org/snomedct/46627006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008513 property_value: exactMatch NCIT:C110923 property_value: IAO:0000589 "chorioretinitis (disease)" xsd:string [Term] id: MONDO:0004675 name: mitochondrial encephalomyopathy def: "A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)" [MESH:D017237] xref: DOID:890 {source="MONDO:equivalentTo"} xref: ICD9:277.87 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D017237 {source="MONDO:equivalentTo", source="DOID:890"} xref: SCTID:447292006 {source="MONDO:equivalentTo", source="DOID:890"} xref: UMLS:C0162666 {source="MONDO:equivalentTo", source="DOID:890"} is_a: MONDO:0009637 {source="DOID:890", source="MESH:D017237"} ! inborn mitochondrial myopathy property_value: exactMatch DOID:890 property_value: exactMatch http://identifiers.org/mesh/D017237 property_value: exactMatch http://identifiers.org/snomedct/447292006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162666 [Term] id: MONDO:0004678 name: dermatophytosis def: "A common fungal infection of the stratum corneum of the skin, hair, or nails by a dermatophyte. It is characterized by itching, inflammation, redness of the skin, small papular vesicles, central clearing, fissures, scaling, and/or hair loss in the affected area." [NCIT:P378] comment: Editor note: check cutaneous vs superficial synonym: "dermatomycosis" RELATED [MESH:D003881] synonym: "fungal skin disease" EXACT [MESH:D003881] synonym: "fungal skin diseases" EXACT [MESH:D003881] synonym: "ringworm" RELATED [Wikipedia:Dermatophytosis] synonym: "skin disease, fungal" EXACT [MESH:D003881] synonym: "skin diseases, fungal" EXACT [MESH:D003881] xref: DOID:8913 {source="MONDO:equivalentTo"} xref: ICD10CM:B35 {source="MONDO:equivalentTo", source="DOID:8913"} xref: ICD9:110 {source="DOID:8913"} xref: ICD9:110.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:110.9 {source="MONDO:equivalentTo", source="DOID:8913", source="MONDO:i2s"} xref: NCIT:C26745 {source="MONDO:equivalentTo", source="DOID:8913"} xref: SCTID:47382004 {source="MONDO:equivalentTo", source="DOID:8913"} xref: UMLS:C0011636 {source="MONDO:equivalentTo", source="DOID:8913", source="NCIT:C26745"} is_a: EFO:0007510 ! tinea is_a: MONDO:0024268 {source="MONDO:Redundant"} ! superficial mycosis property_value: exactMatch DOID:8913 property_value: exactMatch http://identifiers.org/snomedct/47382004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011636 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B35 property_value: exactMatch NCIT:C26745 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0004680 name: primary thrombocytopenia xref: DOID:8925 {source="MONDO:equivalentTo"} xref: ICD9:287.3 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:287.30 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:287.39 {source="DOID:8925"} xref: SCTID:267534000 {source="MONDO:equivalentTo"} xref: UMLS:C0701157 {source="MONDO:equivalentTo"} is_a: MONDO:0000602 {source="DOID:8925"} ! autoimmune disorder of blood property_value: exactMatch DOID:8925 property_value: exactMatch http://identifiers.org/snomedct/267534000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0701157 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0004681 name: learning disability def: "A group of disorders that affect a person's ability to learn or process specific types of information which is in contrast to his/her apparent level of intellect." [NCIT:P378] synonym: "Academic skill disorder" EXACT [DOID:8927] synonym: "learning disorder" EXACT [DOID:8927] xref: DOID:8927 {source="MONDO:equivalentTo"} xref: ICD9:315.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D007859 {source="MONDO:equivalentTo", source="DOID:8927"} xref: NCIT:C89334 {source="MONDO:equivalentTo", source="DOID:8927"} xref: SCTID:1855002 {source="MONDO:equivalentTo", source="DOID:8927"} xref: UMLS:CN229495 {source="MONDO:equivalentTo"} is_a: MONDO:0000592 {source="DOID:8927"} ! specific developmental disorder property_value: exactMatch DOID:8927 property_value: exactMatch http://identifiers.org/mesh/D007859 property_value: exactMatch http://identifiers.org/snomedct/1855002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229495 property_value: exactMatch NCIT:C89334 [Term] id: MONDO:0004685 name: Waldeyer's ring cancer def: "A malignant neoplasm involving the tonsillar ring." [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of tonsillar ring" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of tonsillar ring" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of Waldeyer's ring" EXACT [DOID:8937] synonym: "malignant tonsillar ring neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of Waldeyer's ring" EXACT [DOID:8937] synonym: "malignant tumour of Waldeyer's ring" EXACT OMO:0003005 [] synonym: "tonsillar ring cancer" EXACT [MONDO:patterns/location] synonym: "Waldeyer ring cancer" EXACT [DOID:8937] xref: DOID:8937 {source="MONDO:equivalentTo"} xref: ICD10CM:C14.2 {source="MONDO:equivalentTo", source="DOID:8937"} xref: ICD9:149.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8937"} xref: SCTID:187716008 {source="MONDO:equivalentTo", source="DOID:8937"} xref: UMLS:C0153406 {source="MONDO:equivalentTo", source="DOID:8937"} is_a: EFO:1001931 {source="DOID:8937"} ! oropharynx cancer is_a: MONDO:0000621 ! immune system cancer is_a: MONDO:0044986 ! lymphoid system disorder property_value: exactMatch DOID:8937 property_value: exactMatch http://identifiers.org/snomedct/187716008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153406 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/C14.2 [Term] id: MONDO:0004686 name: lattice corneal dystrophy comment: Editor note: TODO this class sourced from DO, may contain mistakes; may be confused with Lattice corneal dystrophy type II synonym: "familial amyloid neuropathy, Finnish type" EXACT [DOID:8943] synonym: "lattice corneal dystrophy" EXACT [MONDO:ambiguous] synonym: "lattice corneal dystrophy (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:8943 {source="MONDO:equivalentTo"} xref: HP:0001149 {source="MONDO:otherHierarchy"} xref: ICD9:277.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:357.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:1192004 {source="MONDO:equivalentTo"} xref: UMLS:C0155127 {source="MONDO:equivalentTo"} is_a: MONDO:0020213 ! stromal corneal dystrophy property_value: exactMatch DOID:8943 property_value: exactMatch http://identifiers.org/snomedct/1192004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155127 property_value: excluded_subClassOf MONDO:0000764 {source="DOID:8943"} property_value: IAO:0000589 "lattice corneal dystrophy (disease)" xsd:string [Term] id: MONDO:0004689 name: inborn metal metabolism disorder def: "An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals." [DOID:896, http://en.wikipedia.org/wiki/Inborn_errors_of_metal_metabolism] synonym: "metal metabolism disorder" BROAD [DOID:896] synonym: "metal metabolism, inborn error" RELATED [MESH:D008664] xref: DOID:896 {source="MONDO:equivalentTo"} xref: MESH:D008664 {source="DOID:896", source="MONDO:equivalentTo"} xref: UMLS:C0025534 {source="DOID:896", source="MONDO:equivalentTo"} is_a: MONDO:0019052 {source="DOID:896", source="MESH:D008664"} ! inborn errors of metabolism property_value: exactMatch DOID:896 property_value: exactMatch http://identifiers.org/mesh/D008664 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025534 [Term] id: MONDO:0004693 name: squamous carcinoma in situ def: "A malignant epithelial neoplasm confined to the squamous epithelium, without invasion of the underlying tissues." [NCIT:C27093] synonym: "carcinoma in situ of cervix" NARROW [DOID:8991] synonym: "carcinoma in situ of uterine cervix" NARROW [DOID:8991, MONDO:patterns/carcinoma_in_situ, MTH:NOCODE] synonym: "carcinoma, squamous cell, in situ, malignant" EXACT [NCIT:C27093] synonym: "cervical intraepithelial neoplasia grade III with severe dysplasia" NARROW [DOID:8991] synonym: "cervix Ca in situ" NARROW [DOID:8991] synonym: "CIN III" NARROW [DOID:8991] synonym: "CIN III - carcinoma in situ of cervix" NARROW [DOID:8991] synonym: "CIN III - severe dyskaryosis" NARROW [DOID:8991] synonym: "epidermoid carcinoma in situ" EXACT [NCIT:C27093] synonym: "epidermoid cell carcinoma in situ" EXACT [NCIT:C27093] synonym: "grade 3 SIN" EXACT [NCIT:C27093] synonym: "grade 3 squamous intraepithelial neoplasia" EXACT [NCIT:C27093] synonym: "grade III SIN" EXACT [NCIT:C27093] synonym: "grade III squamous intraepithelial neoplasia" EXACT [NCIT:C27093] synonym: "intraepithelial squamous cell carcinoma" EXACT [NCIT:C27093] synonym: "severe dysplasia of cervix" NARROW [DOID:8991] synonym: "severe dysplasia of the cervix uteri" NARROW [DOID:8991, NCIT:C4000] synonym: "squamous carcinoma in situ" EXACT [NCIT:C27093] synonym: "squamous cell carcinoma in situ" EXACT [NCIT:C27093] synonym: "squamous cell carcinoma in-situ" EXACT [NCIT:C27093] synonym: "squamous intraepithelial neoplasia, grade III" NARROW [DOID:8991] synonym: "stage 0 squamous cell carcinoma" EXACT [NCIT:C27093] synonym: "stage 0 uterine cervix carcinoma" NARROW [MONDO:patterns/carcinoma_in_situ] synonym: "uterine cervix in situ carcinoma" NARROW [MONDO:patterns/location] xref: ICDO:8070/2 {source="NCIT:C27093"} xref: ICDO:8077/2 {source="NCIT:C27093"} xref: NCIT:C27093 {source="MONDO:equivalentTo"} xref: UMLS:C0334245 {source="MONDO:equivalentTo", source="NCIT:C27093"} is_a: EFO:0000707 {source="MONDO:Redundant", source="NCIT:C27093"} ! squamous cell carcinoma is_a: MONDO:0004647 {source="MONDO:Redundant", source="NCIT:C27093"} ! in situ carcinoma intersection_of: EFO:0000707 {source="NCIT:C27093"} ! squamous cell carcinoma intersection_of: MONDO:0004647 {source="NCIT:C27093"} ! in situ carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334245 property_value: exactMatch NCIT:C27093 [Term] id: MONDO:0004695 name: liver lymphoma def: "A rare lymphoma that arises from the liver and the bulk of the tumor is located in the liver. The most frequent types of lymphoma that arise from the liver are diffuse large B-cell lymphoma and mucosa-associated lymphoid tissue lymphoma." [NCIT:C4949] synonym: "hepatic lymphoma" EXACT [NCIT:C4949] synonym: "liver lymphoma" EXACT [MONDO:patterns/location, NCIT:C4949] synonym: "lymphoma of liver" EXACT [DOID:901, NCIT:C4949] synonym: "lymphoma of the liver" EXACT [NCIT:C4949] synonym: "primary hepatic lymphoma" EXACT [NCIT:C4949] synonym: "primary liver lymphoma" EXACT [NCIT:C4949] xref: DOID:901 {source="MONDO:equivalentTo"} xref: NCIT:C4949 {source="DOID:901", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1112746 {source="NCIT:C4949", source="DOID:901", source="MONDO:equivalentTo"} is_a: MONDO:0002691 {source="DOID:901", source="MONDO:Redundant", source="NCIT:C4949/inferred"} ! liver cancer is_a: MONDO:0004699 {source="MONDO:Redundant", source="NCIT:C4949"} ! gastrointestinal lymphoma property_value: exactMatch DOID:901 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1112746 property_value: exactMatch NCIT:C4949 [Term] id: MONDO:0004697 name: esophageal leukoplakia def: "A rare condition that usually affects the middle-to-distal esophagus in middle-aged and elderly people. There is usually a history of tobacco smoking or alcohol intake. Dysphagia is the presenting symptom. Morphologically, the lesions are well-demarcated and are characterized by epithelial hyperplasia, thickened basal layer, prominent granular cell layer, and hyperorthokeratosis. In a minority of patients this condition is associated with adjacent high-grade squamous dysplasia and/or squamous cell carcinoma." [NCIT:P378] synonym: "esophageal epidermoid metaplasia" EXACT [NCIT:C3953] synonym: "esophageal leukoplakia" EXACT [MONDO:ambiguous] synonym: "esophageal leukoplakia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "esophagus leukoplakia" EXACT [NCIT:C3953] synonym: "leukoplakia of esophagus" EXACT [DOID:9021] synonym: "leukoplakia of oesophagus" EXACT OMO:0003005 [] synonym: "leukoplakia of the esophagus" EXACT [NCIT:C3953] synonym: "leukoplakia of the oesophagus" EXACT OMO:0003005 [] synonym: "oesophagus leukoplakia" EXACT OMO:0003005 [] xref: DOID:9021 {source="MONDO:equivalentTo"} xref: HP:0012859 {source="MONDO:otherHierarchy"} xref: ICD9:530.83 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9021"} xref: NCIT:C3953 {source="MONDO:equivalentTo", source="DOID:9021"} xref: SCTID:89057003 {source="MONDO:equivalentTo", source="DOID:9021"} xref: UMLS:C0267095 {source="MONDO:equivalentTo", source="DOID:9021", source="NCIT:C3953"} is_a: EFO:0009544 {source="DOID:9021", source="MONDO:Redundant"} ! esophageal disease is_a: MONDO:0043243 {source="MONDO:Redundant", source="NCIT:C3953"} ! leukoplakia property_value: exactMatch DOID:9021 property_value: exactMatch http://identifiers.org/snomedct/89057003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267095 property_value: exactMatch NCIT:C3953 property_value: IAO:0000589 "esophageal leukoplakia (disease)" xsd:string [Term] id: MONDO:0004698 name: intestine carcinoma in situ def: "A carcinoma in situ involving a intestine." [MONDO:patterns/carcinoma_in_situ] synonym: "carcinoma in situ of intestine" EXACT [MONDO:patterns/carcinoma_in_situ] synonym: "intestine in situ carcinoma" EXACT [MONDO:patterns/location] synonym: "stage 0 intestine carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ] xref: DOID:9024 {source="MONDO:equivalentTo"} xref: ICD9:230.7 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:9024"} xref: SCTID:92617001 {source="MONDO:equivalentTo"} xref: UMLS:C0685941 {source="MONDO:equivalentTo"} is_a: EFO:0007330 ! intestinal cancer is_a: EFO:1000218 ! Digestive System Carcinoma is_a: MONDO:0004647 {source="DOID:9024", source="MONDO:Redundant"} ! in situ carcinoma property_value: exactMatch DOID:9024 property_value: exactMatch http://identifiers.org/snomedct/92617001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0685941 [Term] id: MONDO:0004699 name: gastrointestinal lymphoma def: "A non-Hodgkin or Hodgkin lymphoma that arises from any part of the digestive system, with the bulk of the disease localized to that site." [NCIT:P378] synonym: "digestive system lymphoma" EXACT [MONDO:patterns/location, NCIT:C38162] synonym: "gastrointestinal lymphoma" EXACT [NCIT:C38162] synonym: "lymphoma of digestive system" EXACT [MONDO:design_pattern] synonym: "primary digestive system lymphoma" EXACT [NCIT:C38162] synonym: "primary gastrointestinal lymphoma" EXACT [NCIT:C38162] xref: DOID:903 {source="MONDO:equivalentTo"} xref: ICD9:202.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C38162 {source="DOID:903", source="MONDO:equivalentTo"} xref: SCTID:449072004 {source="DOID:903", source="MONDO:equivalentTo"} xref: UMLS:C0740372 {source="DOID:903", source="MONDO:equivalentTo", source="NCIT:C38162"} is_a: EFO:0000574 {source="MONDO:Redundant", source="NCIT:C38162/inferred"} ! lymphoma is_a: MONDO:0002516 {source="DOID:903", source="NCIT:C38162"} ! digestive system cancer property_value: exactMatch DOID:903 property_value: exactMatch http://identifiers.org/snomedct/449072004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0740372 property_value: exactMatch NCIT:C38162 [Term] id: MONDO:0004700 name: parotid gland cancer def: "A primary or metastatic malignant neoplasm involving the parotid gland. Representative examples include carcinoma, malignant mixed tumor, and non-Hodgkin lymphoma." [NCIT:C3525] synonym: "cancer of parotid" EXACT [NCIT:C3525] synonym: "cancer of parotid gland" EXACT [DOID:9036, MONDO:patterns/cancer, NCIT:C3525] synonym: "cancer of the parotid" EXACT [NCIT:C3525] synonym: "cancer of the parotid gland" EXACT [NCIT:C3525] synonym: "malignant neoplasm of parotid" EXACT [NCIT:C3525] synonym: "malignant neoplasm of parotid gland" EXACT [MONDO:patterns/cancer, NCIT:C3525] synonym: "malignant neoplasm of the parotid" EXACT [DOID:9036, NCIT:C3525] synonym: "malignant neoplasm of the parotid gland" EXACT [NCIT:C3525] synonym: "malignant parotid gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3525] synonym: "malignant parotid gland tumor" EXACT [NCIT:C3525] synonym: "malignant parotid gland tumour" EXACT OMO:0003005 [] synonym: "malignant parotid neoplasm" EXACT [NCIT:C3525] synonym: "malignant parotid tumor" EXACT [NCIT:C3525] synonym: "malignant parotid tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of parotid" EXACT [NCIT:C3525] synonym: "malignant tumor of parotid gland" EXACT [NCIT:C3525] synonym: "malignant tumor of the parotid" EXACT [NCIT:C3525] synonym: "malignant tumor of the parotid gland" EXACT [NCIT:C3525] synonym: "malignant tumour of parotid" EXACT OMO:0003005 [] synonym: "malignant tumour of parotid gland" EXACT OMO:0003005 [] synonym: "malignant tumour of the parotid" EXACT OMO:0003005 [] synonym: "malignant tumour of the parotid gland" EXACT OMO:0003005 [] synonym: "parotid cancer" EXACT [DOID:9036] synonym: "parotid gland cancer" EXACT [MONDO:patterns/location, NCIT:C3525] xref: DOID:9036 {source="MONDO:equivalentTo"} xref: ICD9:142.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9036"} xref: MESH:D010307 {source="MONDO:equivalentTo", source="DOID:9036"} xref: NCIT:C3525 {source="MONDO:equivalentTo", source="DOID:9036"} xref: SCTID:363379000 {source="MONDO:equivalentTo", source="DOID:9036"} xref: UMLS:C0747273 {source="MONDO:equivalentTo", source="DOID:9036", source="NCIT:C3525"} is_a: EFO:0003873 {source="MONDO:Redundant", source="NCIT:C3525"} ! parotid neoplasm is_a: MONDO:0044743 ! major salivary gland cancer property_value: exactMatch DOID:9036 property_value: exactMatch http://identifiers.org/mesh/D010307 property_value: exactMatch http://identifiers.org/snomedct/363379000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0747273 property_value: exactMatch NCIT:C3525 [Term] id: MONDO:0004705 name: liver solitary fibrous tumor def: "A solitary fibrous tumor that arises from the liver. It affects females more frequently than males. Signs and symptoms include the presence of an abdominal mass and abdominal discomfort." [NCIT:C5752] synonym: "fibroma of liver" EXACT [NCIT:C5752] synonym: "fibroma of the liver" EXACT [DOID:907, NCIT:C5752] synonym: "hepatic fibroma" EXACT [NCIT:C5752] synonym: "liver fibroma" EXACT [MONDO:patterns/location, NCIT:C5752] synonym: "liver localised fibrous mesothelioma" EXACT OMO:0003005 [] synonym: "liver localised fibrous tumour" EXACT OMO:0003005 [] synonym: "liver localized fibrous mesothelioma" EXACT [NCIT:C5752] synonym: "liver localized fibrous tumor" EXACT [NCIT:C5752] synonym: "liver solitary fibrous tumor" EXACT [NCIT:C5752] xref: DOID:907 {source="MONDO:equivalentTo"} xref: NCIT:C5752 {source="MONDO:equivalentTo", source="DOID:907"} xref: UMLS:C1333965 {source="MONDO:equivalentTo", source="NCIT:C5752", source="DOID:907"} is_a: EFO:0002424 {source="DOID:907", source="MONDO:Entailed"} ! fibroma is_a: MONDO:0016238 {source="MONDO:Redundant", source="NCIT:C5752"} ! solitary fibrous tumor is_a: MONDO:0024477 {source="DOID:907", source="MONDO:Entailed", source="MONDO:Redundant"} ! liver and intrahepatic bile duct neoplasm property_value: exactMatch DOID:907 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333965 property_value: exactMatch NCIT:C5752 [Term] id: MONDO:0004710 name: uterus carcinoma in situ def: "A carcinoma in situ involving a uterus." [MONDO:patterns/carcinoma_in_situ] synonym: "carcinoma in situ of uterus" EXACT [MONDO:patterns/carcinoma_in_situ] synonym: "stage 0 uterus carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ] synonym: "uterus in situ carcinoma" EXACT [MONDO:patterns/location] xref: DOID:9108 {source="MONDO:equivalentTo"} xref: ICD9:233.2 {source="DOID:9108", source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:92788005 {source="MONDO:equivalentTo"} xref: UMLS:C0686237 {source="MONDO:equivalentTo"} is_a: EFO:0002919 ! uterine carcinoma is_a: MONDO:0004647 {source="DOID:9108", source="MONDO:Redundant"} ! in situ carcinoma property_value: exactMatch DOID:9108 property_value: exactMatch http://identifiers.org/snomedct/92788005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0686237 [Term] id: MONDO:0004724 name: submandibular gland cancer def: "A malignant neoplasm involving the submandibular gland." [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of submandibular gland" EXACT [MONDO:patterns/cancer] synonym: "carcinoma of submandibular gland" EXACT [NCIT:C8396] synonym: "carcinoma of the submandibular gland" EXACT [NCIT:C8396] synonym: "malignant neoplasm of submandibular gland" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of submaxillary gland" EXACT [DOID:9173] synonym: "malignant submandibular gland neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of submandibular gland" EXACT [DOID:9173] synonym: "malignant tumor of the submandibular gland" EXACT [DOID:9173, NCIT:C3526] synonym: "malignant tumour of submandibular gland" EXACT OMO:0003005 [] synonym: "malignant tumour of the submandibular gland" EXACT OMO:0003005 [] synonym: "submandibular gland cancer" EXACT [MONDO:patterns/location, NCIT:C8396] synonym: "submandibular gland carcinoma" EXACT [NCIT:C8396] xref: DOID:9173 {source="MONDO:equivalentTo"} xref: ICD9:142.1 {source="DOID:9173", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C8396 {source="MONDO:equivalentTo"} xref: SCTID:363380002 {source="DOID:9173", source="MONDO:equivalentTo"} xref: UMLS:C0153360 {source="DOID:9173", source="MONDO:equivalentTo"} is_a: EFO:1000344 {source="NCIT:C8396"} ! Major Salivary Gland Carcinoma is_a: EFO:1001853 {source="MONDO:Redundant", source="NCIT:C8396/inferred"} ! submandibular gland neoplasm property_value: exactMatch DOID:9173 property_value: exactMatch http://identifiers.org/snomedct/363380002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153360 property_value: exactMatch NCIT:C8396 [Term] id: MONDO:0004725 name: rectum carcinoma in situ def: "A in situ carcinoma that involves the rectum." [MONDO:patterns/location] synonym: "carcinoma in situ of rectum" EXACT [DOID:9174, MONDO:patterns/carcinoma_in_situ, NCIT:C4853] synonym: "carcinoma in situ of the rectum" EXACT [NCIT:C4853] synonym: "marked dysplasia of rectum" EXACT [NCIT:C4853] synonym: "marked dysplasia of the rectum" EXACT [NCIT:C4853] synonym: "marked rectal dysplasia" EXACT [NCIT:C4853] synonym: "rectal carcinoma in situ" EXACT [NCIT:C4853] synonym: "rectum in situ carcinoma" EXACT [MONDO:patterns/location] synonym: "severe dysplasia of rectum" EXACT [DOID:9174, NCIT:C4853] synonym: "severe dysplasia of the rectum" EXACT [NCIT:C4853] synonym: "severe rectal dysplasia" EXACT [DOID:9174, NCIT:C4853] synonym: "stage 0 carcinoma of rectum" EXACT [NCIT:C4853] synonym: "stage 0 carcinoma of the rectum" EXACT [NCIT:C4853] synonym: "stage 0 rectal cancer" EXACT [NCIT:C4853] synonym: "stage 0 rectal cancer aJCC v6" EXACT [NCIT:C4853] synonym: "stage 0 rectal cancer aJCC v6 and v7" EXACT [NCIT:C4853] synonym: "stage 0 rectal cancer aJCC v7" EXACT [NCIT:C4853] synonym: "stage 0 rectal carcinoma" EXACT [NCIT:C4853] synonym: "stage 0 rectum carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ] xref: DOID:9174 {source="MONDO:equivalentTo"} xref: ICD10CM:D01.2 {source="MONDO:equivalentTo", source="DOID:9174"} xref: ICD9:230.4 {source="DOID:9174"} xref: NCIT:C4853 {source="MONDO:equivalentTo", source="DOID:9174"} xref: SCTID:308879003 {source="MONDO:equivalentTo", source="DOID:9174"} xref: UMLS:C0154062 {source="MONDO:equivalentTo", source="DOID:9174", source="NCIT:C4853"} is_a: MONDO:0004698 ! intestine carcinoma in situ is_a: MONDO:0044937 ! rectal carcinoma property_value: exactMatch DOID:9174 property_value: exactMatch http://identifiers.org/snomedct/308879003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154062 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D01.2 property_value: exactMatch NCIT:C4853 [Term] id: MONDO:0004727 name: vestibule of mouth cancer def: "A cancer that involves the oral opening." [MONDO:patterns/location] synonym: "cancer of oral opening" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of oral opening" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of vestibule of mouth" EXACT [DOID:9188] synonym: "malignant oral opening neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of vestibule of mouth" EXACT [DOID:9188, MTH:U001025] synonym: "malignant tumour of vestibule of mouth" EXACT OMO:0003005 [] synonym: "oral opening cancer" EXACT [MONDO:patterns/location] xref: DOID:9188 {source="MONDO:equivalentTo"} xref: ICD10CM:C06.1 {source="MONDO:equivalentTo", source="DOID:9188"} xref: ICD9:145.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9188"} xref: SCTID:187658004 {source="MONDO:equivalentTo", source="DOID:9188"} xref: UMLS:C0153374 {source="MONDO:equivalentTo", source="DOID:9188"} is_a: EFO:0005570 {source="DOID:9188"} ! oral cavity cancer property_value: exactMatch DOID:9188 property_value: exactMatch http://identifiers.org/snomedct/187658004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153374 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/C06.1 [Term] id: MONDO:0004730 name: speech disorder def: "A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders." [NCIT:P378] synonym: "speech impediment or impairment" EXACT [NCIT:C5041] xref: DOID:92 {source="MONDO:equivalentTo"} xref: ICD9:784.40 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:784.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D013064 {source="MONDO:equivalentTo", source="DOID:92"} xref: NCIT:C5041 {source="MONDO:equivalentTo", source="DOID:92"} xref: SCTID:47004009 {source="MONDO:equivalentTo"} xref: UMLS:C0037822 {source="NCIT:C5041", source="MONDO:equivalentTo", source="DOID:92"} is_a: MONDO:0002182 {source="DOID:92", source="MESH:D013064/inferred", source="NCIT:C5041"} ! communication disorder property_value: exactMatch DOID:92 property_value: exactMatch http://identifiers.org/mesh/D013064 property_value: exactMatch http://identifiers.org/snomedct/47004009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037822 property_value: exactMatch NCIT:C5041 [Term] id: MONDO:0004731 name: central sleep apnea syndrome def: "A broad classification of disorders which includes 6 subtypes (primary central sleep apnea, central sleep apnea due to Cheyne-Stokes breathing pattern, central sleep apnea due to medical condition not Cheyne-Stokes, central sleep apnea due to high-altitude periodic breathing, central sleep apnea due to drug or substance and primary sleep apnea of infancy) that are each characterized by interruptions in breathing while asleep. It is caused by improper signaling from the brainstem to respiratory muscles and is triggered by either hypoventilation or hyperventilation. In adults, this disorder may arise following a stroke, congestive heart failure, trauma, infection or the use of narcotic medications. It is more common in older males and may present as a co-morbid condition to obesity. Clinical signs include snoring, insomnia or hypersomnia, difficulty concentrating and fatigue. Recurrent episodes of hypoxia/hypoxemia have long-term detrimental effects on cardiovascular health." [NCIT:C27169] synonym: "alveolar hypoventilation, central" RELATED [MESH:D020182] synonym: "alveolar hypoventilations, central" RELATED [MESH:D020182] synonym: "apnea, central" RELATED [MESH:D020182] synonym: "apnea, central sleep" RELATED [MESH:D020182] synonym: "apnea, sleep, central" RELATED [MESH:D020182] synonym: "Apneas, central" RELATED [MESH:D020182] synonym: "Apneas, central sleep" RELATED [MESH:D020182] synonym: "breathing, central sleep-disordered" RELATED [MESH:D020182] synonym: "Breathings, central sleep-disordered" RELATED [MESH:D020182] synonym: "central alveolar hypoventilation" RELATED [MESH:D020182] synonym: "central alveolar hypoventilation syndrome" RELATED [MESH:D020182] synonym: "central apnea" RELATED [MESH:D020182] synonym: "central Apneas" RELATED [MESH:D020182] synonym: "central sleep apnea" RELATED [MESH:D020182] synonym: "central sleep apnea syndrome" EXACT [DOID:9220, MESH:D020182, NCIT:C27169] synonym: "central sleep apnea, primary" NARROW [MESH:D020182] synonym: "central sleep apnea, secondary" RELATED [MESH:D020182] synonym: "central sleep Apneas" RELATED [MESH:D020182] synonym: "central sleep disordered breathing" RELATED [MESH:D020182] synonym: "central sleep-disordered breathing" RELATED [MESH:D020182] synonym: "central sleep-disordered Breathings" RELATED [MESH:D020182] synonym: "hypoventilation, central alveolar" RELATED [MESH:D020182] synonym: "hypoventilations, central alveolar" RELATED [MESH:D020182] synonym: "ondine syndrome" RELATED [MESH:D020182] synonym: "primary central sleep apnea" NARROW [DOID:9220] synonym: "secondary central sleep apnea" NARROW [MESH:D020182] synonym: "sleep apnea, lethal central" RELATED [MESH:D020182] synonym: "sleep Apneas, central" RELATED [MESH:D020182] synonym: "sleep disordered breathing, central" RELATED [MESH:D020182] synonym: "sleep-disordered breathing, central" RELATED [MESH:D020182] synonym: "sleep-disordered Breathings, central" RELATED [MESH:D020182] xref: DOID:9220 {source="MONDO:equivalentTo"} xref: ICD9:327.21 {source="DOID:9220"} xref: MESH:D020182 {source="MONDO:equivalentTo", source="DOID:9220"} xref: NCIT:C27169 {source="MONDO:equivalentTo"} xref: SCTID:27405005 {source="MONDO:equivalentTo"} xref: UMLS:C3887547 {source="NCIT:C27169", source="MONDO:equivalentTo"} is_a: EFO:0003877 {source="DOID:9220", source="MESH:D020182"} ! sleep apnea is_a: MONDO:0002254 {source="NCIT:C27169"} ! syndromic disease property_value: exactMatch DOID:9220 property_value: exactMatch http://identifiers.org/mesh/D020182 property_value: exactMatch http://identifiers.org/snomedct/27405005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3887547 property_value: exactMatch NCIT:C27169 [Term] id: MONDO:0004736 name: inborn disorder of amino acid metabolism def: "An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria." [NCIT:P378] synonym: "amino acid metabolic disorder" RELATED [DOID:9252] synonym: "amino acid metabolism, inborn errors" RELATED [GARD:0006770] synonym: "inborn amino acid metabolism disorder" RELATED [GARD:0006770] synonym: "inborn cellular amino acid metabolic process disorder" EXACT [] synonym: "inborn error of amino acid metabolism" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn error of cellular amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn errors of amino acid metabolism" EXACT [DOID:9252] synonym: "inherited amino acid metabolic disorder" EXACT [] synonym: "rare inborn error of cellular amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] xref: DOID:9252 {source="MONDO:equivalentTo"} xref: ICD9:270 {source="DOID:9252"} xref: ICD9:270.9 {source="DOID:9252"} xref: MESH:D000592 {source="MONDO:equivalentTo", source="DOID:9252"} xref: SCTID:42930003 {source="MONDO:equivalentTo", source="DOID:9252"} xref: SCTID:44779003 {source="MONDO:relatedTo", source="DOID:9252"} is_a: MONDO:0019052 {source="DOID:9252", source="MESH:D000592", source="MONDO:indirect"} ! inborn errors of metabolism property_value: exactMatch DOID:9252 property_value: exactMatch http://identifiers.org/mesh/D000592 property_value: exactMatch http://identifiers.org/snomedct/42930003 [Term] id: MONDO:0004737 name: homocystinuria def: "An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems." [NCIT:P378] synonym: "CBS deficiency" NARROW [DOID:9263] synonym: "cystathionine beta synthase deficiency" NARROW [DOID:9263] synonym: "cystathionine synthase deficiency" NARROW [DOID:9263] synonym: "homocystinuria" EXACT [MONDO:ambiguous] synonym: "homocystinuria (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:9263 {source="MONDO:equivalentTo"} xref: HP:0002156 {source="MONDO:otherHierarchy"} xref: ICD10CM:E72.11 {source="MONDO:equivalentTo", source="DOID:9263"} xref: MESH:D006712 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo", source="DOID:9263"} xref: NCIT:C84765 {source="MONDO:equivalentTo", source="DOID:9263"} xref: SCTID:11282001 {source="MONDO:equivalentTo", source="DOID:9263"} xref: UMLS:C0019880 {source="NCIT:C84765", source="MONDO:equivalentTo", source="DOID:9263"} is_a: MONDO:0004736 ! inborn disorder of amino acid metabolism is_a: MONDO:0019222 ! inborn disorder of methionine cycle and sulfur amino acid metabolism is_a: MONDO:0037871 ! amino acid metabolism disease property_value: exactMatch DOID:9263 property_value: exactMatch http://identifiers.org/mesh/D006712 property_value: exactMatch http://identifiers.org/snomedct/11282001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019880 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E72.11 property_value: exactMatch NCIT:C84765 property_value: IAO:0000589 "homocystinuria (disease)" xsd:string [Term] id: MONDO:0004739 name: urea cycle disorder def: "A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body." [NCIT:P378] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79167"} synonym: "disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia" EXACT [DOID:9267] synonym: "disorder of urea cycle metabolism" EXACT [DOID:9267, ICD9CM:270.6] synonym: "disorder of urea cycle metabolism and ammonia detoxification" RELATED [Orphanet:79167] synonym: "inborn disorder of urea cycle metabolism and ammonia detoxification" EXACT [MONDO:0019217] synonym: "inborn urea cycle disorder" EXACT [NCIT:C84785] synonym: "UCD" RELATED ABBREVIATION [GARD:0007837] synonym: "urea cycle defect" EXACT [DOID:9267] synonym: "urea cycle disorders" EXACT [GARD:0007837] synonym: "urea cycle metabolism disorder" EXACT [NCIT:C84785] xref: DOID:9267 {source="MONDO:equivalentTo"} xref: ICD9:270.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9267"} xref: MESH:D056806 {source="MONDO:equivalentTo", source="DOID:9267"} xref: NCIT:C84785 {source="MONDO:equivalentTo", source="DOID:9267"} xref: Orphanet:79167 {source="MONDO:equivalentTo"} xref: SCTID:36444000 {source="MONDO:equivalentTo", source="DOID:9267"} xref: UMLS:C0154246 {source="MONDO:equivalentTo", source="DOID:9267", source="NCIT:C84785"} is_a: MONDO:0004736 {source="DOID:9267", source="MESH:D056806", source="MONDO:Entailed", source="MONDO:Redundant"} ! inborn disorder of amino acid metabolism is_a: MONDO:0019189 {source="Orphanet:79167"} ! inborn disorder of amino acid and other organic acid metabolism property_value: exactMatch DOID:9267 property_value: exactMatch http://identifiers.org/mesh/D056806 property_value: exactMatch http://identifiers.org/snomedct/36444000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154246 property_value: exactMatch NCIT:C84785 property_value: exactMatch Orphanet:79167 [Term] id: MONDO:0004741 name: tyrosinemia def: "An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs." [NCIT:P378] xref: DOID:9275 {source="MONDO:equivalentTo"} xref: ICD10CM:E70.21 {source="MONDO:equivalentTo", source="DOID:9275"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D020176 {source="MONDO:equivalentTo", source="DOID:9275"} xref: NCIT:C98640 {source="MONDO:equivalentTo", source="DOID:9275"} xref: OMIMPS:276700 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: SCTID:190694001 {source="MONDO:equivalentTo", source="DOID:9275"} xref: UMLS:C0268483 {source="MONDO:equivalentTo", source="NCIT:C98640", source="DOID:9275"} is_a: MONDO:0017307 {source="MONDO:Redundant"} ! disorder of tyrosine metabolism property_value: exactMatch DOID:9275 property_value: exactMatch http://identifiers.org/mesh/D020176 property_value: exactMatch http://identifiers.org/snomedct/190694001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268483 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E70.21 property_value: exactMatch https://omim.org/phenotypicSeries/PS276700 property_value: exactMatch NCIT:C98640 [Term] id: MONDO:0004746 name: myopathy of extraocular muscle def: "A myopathy that involves the extra-ocular muscle." [MONDO:patterns/location] synonym: "extra-ocular muscle myopathy" EXACT [MONDO:patterns/location] synonym: "myopathy of extra-ocular muscle" EXACT [MONDO:design_pattern] synonym: "myopathy of extraocular muscles" EXACT [DOID:929] xref: DOID:929 {source="MONDO:equivalentTo"} xref: ICD9:376.82 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:929"} xref: SCTID:57130002 {source="MONDO:equivalentTo", source="DOID:929"} xref: UMLS:C0155286 {source="MONDO:equivalentTo", source="DOID:929"} is_a: EFO:0004145 {source="DOID:929", source="MONDO:Redundant"} ! myopathy is_a: EFO:0009546 ! eye adnexa disease property_value: exactMatch DOID:929 property_value: exactMatch http://identifiers.org/snomedct/57130002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155286 [Term] id: MONDO:0004748 name: lip disorder def: "A disease involving the lip." [https://orcid.org/0000-0002-6601-2165] synonym: "disease of lip" EXACT [MONDO:patterns/location_top] synonym: "disease of lips" EXACT [DOID:9297, ICD9CM:528.5] synonym: "disease or disorder of lip" EXACT [] synonym: "disorder of lip" EXACT [MONDO:patterns/location_top] synonym: "lip disease" EXACT [MONDO:patterns/location] synonym: "lip disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "lip disorder" EXACT [NCIT:C26818] xref: DOID:9297 {source="MONDO:equivalentTo"} xref: ICD9:528.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9297"} xref: MESH:D008047 {source="MONDO:equivalentTo", source="DOID:9297"} xref: NCIT:C26818 {source="MONDO:equivalentTo", source="DOID:9297"} xref: SCTID:90678009 {source="MONDO:equivalentTo", source="DOID:9297"} xref: UMLS:C0023760 {source="NCIT:C26818", source="MONDO:equivalentTo", source="DOID:9297"} is_a: EFO:1001047 {source="DOID:9297", source="MESH:D008047", source="MONDO:Redundant", source="NCIT:C26818"} ! mouth disease property_value: exactMatch DOID:9297 property_value: exactMatch http://identifiers.org/mesh/D008047 property_value: exactMatch http://identifiers.org/snomedct/90678009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023760 property_value: exactMatch NCIT:C26818 [Term] id: MONDO:0004750 name: language disorder def: "A category of disorders characterized by an impairment in the development of an individual's language capabilities, which is in contrast to his/her non-verbal intellect." [NCIT:P378] xref: DOID:93 {source="MONDO:equivalentTo"} xref: EFO:0005425 {source="MONDO:equivalentTo"} xref: HP:0002463 {source="MONDO:otherHierarchy"} xref: MESH:D007806 {source="MONDO:equivalentTo", source="DOID:93"} xref: NCIT:C97155 {source="MONDO:equivalentTo", source="DOID:93"} is_a: MONDO:0002182 {source="DOID:93", source="MESH:D007806"} ! communication disorder property_value: exactMatch DOID:93 property_value: exactMatch http://identifiers.org/mesh/D007806 property_value: exactMatch NCIT:C97155 [Term] id: MONDO:0004751 name: disease of orbital part of eye adnexa def: "Diseases of the bony orbit and contents except the eyeball." [MESH:D009916] comment: Editor note: check this. MESH and DOID excludes eyeball which would make equivalent to adnexa synonym: "orbital disease" RELATED [DOID:930] xref: DOID:930 {source="MONDO:equivalentTo"} xref: ICD9:376 {source="DOID:930"} xref: ICD9:376.9 {source="DOID:930"} xref: MESH:D009916 {source="DOID:930", source="MONDO:equivalentTo"} xref: UMLS:C0029182 {source="DOID:930", source="MONDO:equivalentTo"} is_a: EFO:0009546 {source="DOID:930"} ! eye adnexa disease property_value: exactMatch DOID:930 property_value: exactMatch http://identifiers.org/mesh/D009916 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029182 [Term] id: MONDO:0004756 name: nasal cavity neoplasm def: "A benign or malignant neoplasm that affects the nasal cavity. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." [NCIT:C4413] synonym: "nasal cavity neoplasm" EXACT [NCIT:C4413] synonym: "nasal cavity neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "nasal cavity tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4413] synonym: "nasal cavity tumour" EXACT OMO:0003005 [] synonym: "neoplasm of nasal cavity" EXACT [MONDO:patterns/neoplasm, NCIT:C4413] synonym: "neoplasm of the nasal cavity" EXACT [NCIT:C4413] synonym: "tumor of nasal cavity" EXACT [MONDO:patterns/neoplasm, NCIT:C4413] synonym: "tumor of the nasal cavity" EXACT [DOID:9310, NCIT:C4413] synonym: "tumour of nasal cavity" EXACT OMO:0003005 [] synonym: "tumour of the nasal cavity" EXACT OMO:0003005 [] xref: DOID:9310 {source="MONDO:equivalentTo"} xref: NCIT:C4413 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:9310"} xref: SCTID:126670003 {source="MONDO:equivalentTo", source="DOID:9310"} xref: UMLS:C0345630 {source="MONDO:equivalentTo", source="NCIT:C4413", source="DOID:9310"} is_a: EFO:0003853 ! respiratory system neoplasm is_a: EFO:0005950 {source="MONDO:Redundant", source="NCIT:C4413/inferred"} ! head and neck neoplasia is_a: MONDO:0002232 {source="DOID:9310", source="MONDO:Redundant", source="NCIT:C4413"} ! nasal cavity disorder property_value: exactMatch DOID:9310 property_value: exactMatch http://identifiers.org/snomedct/126670003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345630 property_value: exactMatch NCIT:C4413 [Term] id: MONDO:0004768 name: keratoconjunctivitis def: "Inflammation of both the cornea and the conjunctiva." [NCIT:P378] xref: DOID:9368 {source="MONDO:equivalentTo"} xref: HP:0001096 {source="MONDO:otherHierarchy"} xref: ICD10CM:H16.2 {source="MONDO:equivalentTo", source="DOID:9368"} xref: ICD9:370.40 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9368"} xref: ICD9:370.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:370.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D007637 {source="MONDO:equivalentTo", source="DOID:9368"} xref: NCIT:C34744 {source="MONDO:equivalentTo", source="DOID:9368"} xref: SCTID:88151007 {source="MONDO:equivalentTo", source="DOID:9368"} xref: UMLS:C0022573 {source="MONDO:equivalentTo", source="NCIT:C34744", source="DOID:9368"} is_a: EFO:0009449 {source="ICD10CM:H16.2", source="MESH:D007637", source="MONDO:Redundant"} ! keratitis is_a: EFO:0009450 {source="MESH:D007637", source="MONDO:Redundant"} ! conjunctivitis property_value: exactMatch DOID:9368 property_value: exactMatch http://identifiers.org/mesh/D007637 property_value: exactMatch http://identifiers.org/snomedct/88151007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022573 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H16.2 property_value: exactMatch NCIT:C34744 [Term] id: MONDO:0004777 name: acute laryngitis def: "An acute inflammatory process affecting the larynx. It is caused by bacteria, viruses, or vocal strain. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness." [NCIT:P378] synonym: "laryngitis" BROAD [NCIT:C26688] synonym: "laryngitis, acute" EXACT [MONDO:patterns/acute] xref: DOID:9396 {source="MONDO:equivalentTo"} xref: ICD10CM:J04.0 {source="MONDO:equivalentTo", source="DOID:9396"} xref: ICD9:464.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9396"} xref: ICD9:464.00 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:464.01 {source="DOID:9396"} xref: NCIT:C26688 {source="MONDO:equivalentTo", source="DOID:9396"} xref: SCTID:6655004 {source="MONDO:equivalentTo", source="DOID:9396"} xref: UMLS:C0001327 {source="MONDO:equivalentTo", source="NCIT:C26688", source="DOID:9396"} is_a: MONDO:0002647 {source="DOID:9396", source="MONDO:Redundant", source="NCIT:C26688"} ! laryngitis is_a: MONDO:0020683 ! acute disease property_value: exactMatch DOID:9396 property_value: exactMatch http://identifiers.org/snomedct/6655004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001327 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/J04.0 property_value: exactMatch NCIT:C26688 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0004782 name: diabetes insipidus def: "A disorder characterized by excretion of large amounts of urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. It may also be drug-related." [NCIT:C43263] xref: DOID:9409 {source="MONDO:equivalentTo"} xref: ICD10CM:E23.2 {source="DOID:9409", source="MONDO:equivalentTo"} xref: ICD9:253.5 {source="DOID:9409", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D003919 {source="DOID:9409", source="MONDO:equivalentTo"} xref: NCIT:C43263 {source="DOID:9409", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:15771004 {source="DOID:9409", source="MONDO:equivalentTo"} xref: UMLS:C0011848 {source="DOID:9409", source="MONDO:equivalentTo", source="NCIT:C43263"} is_a: EFO:0003086 {source="DOID:9409", source="MESH:D003919"} ! kidney disease property_value: exactMatch DOID:9409 property_value: exactMatch http://identifiers.org/mesh/D003919 property_value: exactMatch http://identifiers.org/snomedct/15771004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011848 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E23.2 property_value: exactMatch NCIT:C43263 [Term] id: MONDO:0004784 name: allergic asthma def: "A asthma with a basis in a pathological type I hypersensitivity reaction." [MONDO:patterns/allergic_form_of_disease] synonym: "allergic form of asthma" EXACT [MONDO:patterns/allergic_form_of_disease] synonym: "atopic asthma" RELATED [DOID:9415] synonym: "extrinsic asthma with acute exacerbation" EXACT [DOID:9415] synonym: "extrinsic asthma with status asthmaticus" EXACT [DOID:9415] xref: DOID:9415 {source="MONDO:equivalentTo"} xref: ICD9:493.0 {source="DOID:9415"} xref: SCTID:389145006 {source="DOID:9415", source="MONDO:equivalentTo"} xref: UMLS:C0155877 {source="DOID:9415", source="MONDO:equivalentTo"} is_a: MONDO:0000771 ! allergic respiratory disease is_a: MONDO:0004979 {source="DOID:9415", source="MONDO:Entailed", source="MONDO:Redundant"} ! asthma property_value: exactMatch DOID:9415 property_value: exactMatch http://identifiers.org/snomedct/389145006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155877 [Term] id: MONDO:0004789 name: cholangitis def: "An acute or chronic inflammatory process affecting the biliary tract." [NCIT:C26718] synonym: "biliary tract infection" EXACT [NCIT:C26718] synonym: "biliary tree inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "cholangitis" EXACT [NCIT:C26718] synonym: "inflammation of biliary tree" EXACT [] xref: DOID:9446 {source="MONDO:equivalentTo"} xref: ICD10CM:K83.0 {source="DOID:9446", source="MONDO:equivalentTo"} xref: ICD9:576.1 {source="DOID:9446", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D002761 {source="DOID:9446", source="MONDO:equivalentTo"} xref: NCIT:C26718 {source="DOID:9446", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:82403002 {source="DOID:9446", source="MONDO:equivalentTo"} xref: UMLS:C0008311 {source="DOID:9446", source="NCIT:C26718", source="MONDO:equivalentTo"} is_a: EFO:0009903 {source="MONDO:Redundant"} ! inflammatory disease is_a: EFO:1000400 {source="NCIT:C26718"} ! Non-Neoplastic Bile Duct Disorder property_value: exactMatch DOID:9446 property_value: exactMatch http://identifiers.org/mesh/D002761 property_value: exactMatch http://identifiers.org/snomedct/82403002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008311 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K83.0 property_value: exactMatch NCIT:C26718 [Term] id: MONDO:0004790 name: fatty liver disease def: "A reversible condition wherein large vacuoles of triglyceride fat accumulate in liver cells via the process of steatosis." [Wikipedia:Fatty_liver] comment: Editor note: classified as inherited in DO synonym: "fatty change of liver" EXACT [DOID:9452] synonym: "fatty liver" EXACT [MONDO:0005317] synonym: "hepatic lipidosis" EXACT [DOID:9452] synonym: "steatosis of liver" EXACT [DOID:9452] xref: DOID:9452 {source="MONDO:equivalentTo"} xref: EFO:0003934 {source="MONDO:equivalentTo"} xref: ICD9:571.0 {source="DOID:9452"} xref: ICD9:571.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D005234 {source="MONDO:equivalentTo", source="DOID:9452", source="EFO:0003934"} xref: SCTID:197321007 {source="MONDO:equivalentTo", source="DOID:9452", source="EFO:0003934"} xref: SCTID:371330000 {source="MONDO:equivalentObsolete", source="DOID:9452"} is_a: EFO:0001421 {source="MESH:D005234", source="MONDO:Redundant"} ! liver disease property_value: exactMatch DOID:9452 property_value: exactMatch http://identifiers.org/mesh/D005234 property_value: exactMatch http://identifiers.org/snomedct/197321007 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0004800 name: chronic dacryoadenitis def: "Chronic form of dacryoadenitis." [MONDO:patterns/chronic] synonym: "dacryoadenitis, chronic" EXACT [MONDO:patterns/chronic] xref: DOID:949 {source="MONDO:equivalentTo"} xref: ICD9:375.02 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:949"} xref: SCTID:4760008 {source="MONDO:equivalentTo", source="DOID:949"} xref: UMLS:C0155224 {source="MONDO:equivalentTo", source="DOID:949"} is_a: MONDO:0004804 {source="DOID:949", source="MONDO:Redundant"} ! dacryoadenitis property_value: exactMatch DOID:949 property_value: exactMatch http://identifiers.org/snomedct/4760008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155224 [Term] id: MONDO:0004804 name: dacryoadenitis def: "Inflammation and enlargement of the lacrimal gland." [NCIT:P378] synonym: "inflammation of lacrimal gland" EXACT [] synonym: "lacrimal gland inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:950 {source="MONDO:equivalentTo"} xref: ICD9:375.0 {source="DOID:950"} xref: ICD9:375.00 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:950"} xref: MESH:D003607 {source="MONDO:directSiblingOf", source="DOID:950"} xref: NCIT:C26971 {source="MONDO:equivalentTo", source="DOID:950"} xref: SCTID:86927009 {source="MONDO:equivalentTo", source="DOID:950"} xref: UMLS:C0155223 {source="NCIT:C26971", source="MONDO:equivalentTo", source="DOID:950"} is_a: EFO:0009903 {source="MONDO:Redundant"} ! inflammatory disease is_a: MONDO:0024625 ! disorder of lacrimal gland property_value: exactMatch DOID:950 property_value: exactMatch http://identifiers.org/snomedct/86927009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155223 property_value: exactMatch NCIT:C26971 [Term] id: MONDO:0004805 name: leukocyte disorder def: "A disease involving leukocytes." [https://orcid.org/0000-0002-6601-2165] synonym: "disease of leukocyte" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of leukocyte" EXACT [] synonym: "disorder of leukocyte" EXACT [MONDO:patterns/location_top] synonym: "disorder, leukocyte" EXACT [MESH:D007960] synonym: "disorders, leukocyte" EXACT [MESH:D007960] synonym: "leukocyte disease" EXACT [MONDO:patterns/location] synonym: "leukocyte disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "leukocyte disorder" EXACT [MESH:D007960] synonym: "white blood cell disorder" EXACT [] xref: DOID:9500 {source="MONDO:equivalentTo"} xref: ICD9:288 {source="DOID:9500"} xref: ICD9:288.9 {source="DOID:9500"} xref: MESH:D007960 {source="MONDO:equivalentTo", source="DOID:9500"} xref: SCTID:54097007 {source="MONDO:equivalentTo", source="DOID:9500"} xref: UMLS:C0023510 {source="MONDO:equivalentTo", source="DOID:9500"} is_a: EFO:0000540 ! immune system disease is_a: EFO:0005803 {source="DOID:9500", source="MESH:D007960"} ! hematologic disease property_value: exactMatch DOID:9500 property_value: exactMatch http://identifiers.org/mesh/D007960 property_value: exactMatch http://identifiers.org/snomedct/54097007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023510 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0004812 name: acute dacryoadenitis def: "Acute form of dacryoadenitis." [MONDO:patterns/acute] synonym: "dacryoadenitis, acute" EXACT [MONDO:patterns/acute] xref: DOID:952 {source="MONDO:equivalentTo"} xref: ICD9:375.01 {source="DOID:952", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:2589008 {source="DOID:952", source="MONDO:equivalentTo"} xref: UMLS:C0149505 {source="DOID:952", source="MONDO:equivalentTo"} is_a: MONDO:0004804 {source="DOID:952", source="MONDO:Redundant"} ! dacryoadenitis is_a: MONDO:0020683 ! acute disease property_value: exactMatch DOID:952 property_value: exactMatch http://identifiers.org/snomedct/2589008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149505 [Term] id: MONDO:0004820 name: peripheral nerve schwannoma def: "A benign, usually encapsulated slow growing tumor of the peripheral nervous system composed of Schwann cells. It recurs infrequently and only rare cases associated with malignant transformation have been reported." [NCIT:P378] synonym: "peripheral nerve schwannoma" EXACT [NCIT:C41430] xref: DOID:956 {source="MONDO:equivalentTo"} xref: NCIT:C41430 {source="DOID:956", source="MONDO:equivalentTo", source="NCIT:C41430"} xref: UMLS:C1519001 {source="DOID:956", source="MONDO:equivalentTo", source="NCIT:C41430"} is_a: EFO:0000693 {source="DOID:956", source="NCIT:C41430"} ! schwannoma property_value: exactMatch DOID:956 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519001 property_value: exactMatch NCIT:C41430 [Term] id: MONDO:0004821 name: nasopharyngeal disorder def: "A non-neoplastic or neoplastic disorder that affects the nasopharynx. Representative examples include nasopharyngitis, angiofibroma, and carcinoma." [NCIT:P378] synonym: "disease of nasopharynx" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of nasopharynx" EXACT [] synonym: "disorder of nasopharynx" EXACT [MONDO:patterns/location_top] synonym: "disorder of postnasal space" RELATED [] synonym: "nasopharyngeal disorder" EXACT [NCIT:C35723] synonym: "nasopharynx disease" EXACT [MONDO:patterns/location] synonym: "nasopharynx disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:9561 {source="MONDO:equivalentTo"} xref: MESH:D009302 {source="MONDO:equivalentTo", source="DOID:9561"} xref: NCIT:C35723 {source="MONDO:equivalentTo", source="DOID:9561"} xref: SCTID:123952009 {source="MONDO:equivalentTo", source="DOID:9561"} xref: UMLS:C0027438 {source="MONDO:equivalentTo", source="DOID:9561"} is_a: MONDO:0004867 {source="DOID:9561", source="MONDO:Redundant"} ! upper respiratory tract disorder is_a: MONDO:0020592 ! disorder of pharynx property_value: exactMatch DOID:9561 property_value: exactMatch http://identifiers.org/mesh/D009302 property_value: exactMatch http://identifiers.org/snomedct/123952009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027438 property_value: exactMatch NCIT:C35723 [Term] id: MONDO:0004822 name: bronchiectasis def: "Segmental, irreversible dilation of the bronchial tree resulting in the accumulation of secretions which leads to obstruction. The most common cause is bacterial infection." [NCIT:P378] synonym: "Polynesian bronchiectasis" EXACT [DOID:9563] xref: DOID:9563 {source="MONDO:equivalentTo"} xref: ICD10CM:J47 {source="MONDO:equivalentTo", source="DOID:9563"} xref: ICD9:494 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9563"} xref: MESH:D001987 {source="MONDO:equivalentTo", source="DOID:9563"} xref: NCIT:C84475 {source="MONDO:equivalentTo", source="DOID:9563"} xref: OMIMPS:211400 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: SCTID:12295008 {source="MONDO:equivalentTo", source="DOID:9563"} xref: UMLS:C0006267 {source="MONDO:equivalentTo", source="DOID:9563", source="NCIT:C84475"} is_a: EFO:0000341 {source="NCIT:C84475"} ! chronic obstructive pulmonary disease is_a: EFO:0000508 ! genetic disorder is_a: EFO:1002018 {source="DOID:9563", source="MESH:D001987"} ! bronchial disease property_value: exactMatch DOID:9563 property_value: exactMatch http://identifiers.org/mesh/D001987 property_value: exactMatch http://identifiers.org/snomedct/12295008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006267 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/J47 property_value: exactMatch https://omim.org/phenotypicSeries/PS211400 property_value: exactMatch NCIT:C84475 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0004828 name: lower urinary tract calculus def: "A urolithiasis that involves the lower urinary tract." [MONDO:design_pattern] synonym: "lower urinary tract urolithiasis" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "urolithiasis of lower urinary tract" EXACT [MONDO:design_pattern] xref: DOID:9590 {source="MONDO:equivalentTo"} xref: ICD10CM:N21 {source="DOID:9590", source="MONDO:directSiblingOf"} xref: ICD10CM:N21.9 {source="MONDO:equivalentTo", source="DOID:9590"} xref: ICD9:594 {source="DOID:9590"} xref: ICD9:594.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:594.9 {source="MONDO:equivalentTo", source="DOID:9590", source="MONDO:i2s"} xref: SCTID:79509009 {source="MONDO:equivalentTo", source="DOID:9590"} xref: UMLS:C0156264 {source="MONDO:equivalentTo", source="DOID:9590"} is_a: MONDO:0024647 ! urolithiasis property_value: exactMatch DOID:9590 property_value: exactMatch http://identifiers.org/snomedct/79509009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156264 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/N21.9 [Term] id: MONDO:0004830 name: fasciitis def: "Inflammation process in fascia." [NCIT:P378] synonym: "fascia inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "fasciitis" EXACT [MONDO:ambiguous] synonym: "fasciitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Fascitis" EXACT [NCIT:C50559] synonym: "inflammation of fascia" EXACT [] xref: DOID:9598 {source="MONDO:equivalentTo"} xref: HP:0100537 {source="MONDO:otherHierarchy"} xref: ICD9:729.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9598"} xref: MESH:D005208 {source="MONDO:equivalentTo", source="DOID:9598"} xref: NCIT:C50559 {source="MONDO:equivalentTo", source="DOID:9598"} xref: SCTID:36948007 {source="MONDO:equivalentTo", source="DOID:9598"} xref: UMLS:C0015645 {source="NCIT:C50559", source="MONDO:equivalentTo", source="DOID:9598"} is_a: EFO:0009676 ! musculoskeletal system disease is_a: EFO:0009903 ! inflammatory disease is_a: EFO:1001986 {source="DOID:9598", source="MONDO:Redundant"} ! connective tissue disease property_value: exactMatch DOID:9598 property_value: exactMatch http://identifiers.org/mesh/D005208 property_value: exactMatch http://identifiers.org/snomedct/36948007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015645 property_value: exactMatch NCIT:C50559 property_value: IAO:0000589 "fasciitis (disease)" xsd:string [Term] id: MONDO:0004843 name: pathologic nystagmus def: "Involuntary movements of the eyeballs. The presence or absence of nystagmus is often used in the diagnosis of a variety of neurological and visual disorders." [NCIT:P378] xref: DOID:9650 {source="MONDO:equivalentTo"} xref: ICD9:379.50 {source="DOID:9650"} xref: MESH:D009759 {source="MONDO:equivalentTo", source="DOID:9650"} xref: UMLS:C0028738 {source="MONDO:equivalentTo", source="DOID:9650"} is_a: EFO:1001990 {source="DOID:9650"} ! ocular motility disease property_value: exactMatch DOID:9650 property_value: exactMatch http://identifiers.org/mesh/D009759 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0028738 [Term] id: MONDO:0004847 name: senile cataract def: "A cataract with no obvious cause occurring in persons over 50 years old." [https://medical-dictionary.thefreedictionary.com/senile+cataract] xref: DOID:9669 {source="MONDO:equivalentTo"} xref: ICD9:366.1 {source="DOID:9669"} xref: ICD9:366.10 {source="DOID:9669", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C35012 {source="DOID:9669", source="MONDO:equivalentTo"} xref: SCTID:39450006 {source="DOID:9669", source="MONDO:equivalentTo"} is_a: MONDO:0005129 {source="DOID:9669", source="NCIT:C35012/inferred"} ! cataract property_value: exactMatch DOID:9669 property_value: exactMatch http://identifiers.org/snomedct/39450006 property_value: exactMatch NCIT:C35012 [Term] id: MONDO:0004848 name: ulcerative stomatitis def: "Inflammation of the mouth mucosa associated with the presence of ulcers." [NCIT:C35039] synonym: "ulcerative stomatitis" EXACT [NCIT:C35039] xref: DOID:9673 {source="MONDO:equivalentTo"} xref: ICD9:528.00 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D005892 {source="MONDO:relatedTo", source="DOID:9673"} xref: NCIT:C35039 {source="MONDO:equivalentTo", source="DOID:9673"} xref: SCTID:450005 {source="MONDO:equivalentTo", source="DOID:9673"} xref: UMLS:C0038367 {source="MONDO:equivalentTo", source="NCIT:C35039", source="DOID:9673"} is_a: EFO:0009688 {source="DOID:9673", source="NCIT:C35039"} ! stomatitis property_value: exactMatch DOID:9673 property_value: exactMatch http://identifiers.org/snomedct/450005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038367 property_value: exactMatch NCIT:C35039 [Term] id: MONDO:0004857 name: tendinitis def: "Inflammation of a tendon, usually resulting from an overuse injury. It is characterized by swelling of the tendon, tenderness around the inflamed tendon, and pain while moving the affected area of the body." [NCIT:C97141] synonym: "inflammation of tendon" EXACT [] synonym: "tendon inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "tendonitis" EXACT [MONDO:patterns/inflammatory_disease_by_site, NCIT:C97141] xref: DOID:971 {source="MONDO:equivalentTo"} xref: NCIT:C97141 {source="MONDO:equivalentTo", source="DOID:971"} xref: SCTID:34840004 {source="MONDO:equivalentTo", source="DOID:971"} xref: UMLS:C0039503 {source="MONDO:equivalentTo", source="NCIT:C97141", source="DOID:971"} is_a: EFO:0000783 {source="DOID:971"} ! myositis is_a: EFO:1001434 ! Tendinopathy property_value: exactMatch DOID:971 property_value: exactMatch http://identifiers.org/snomedct/34840004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039503 property_value: exactMatch NCIT:C97141 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5537 xsd:anyURI [Term] id: MONDO:0004860 name: vitreous disorder def: "A disease involving the vitreous humor." [https://orcid.org/0000-0002-6601-2165] synonym: "disease of vitreous humor" EXACT [MONDO:patterns/location_top] synonym: "disease of vitreous humour" EXACT OMO:0003005 [] synonym: "disease or disorder of vitreous humor" EXACT [] synonym: "disease or disorder of vitreous humour" EXACT OMO:0003005 [] synonym: "disorder of vitreous humor" EXACT [MONDO:patterns/location_top] synonym: "disorder of vitreous humour" EXACT OMO:0003005 [] synonym: "vitreous humor disease" EXACT [MONDO:patterns/location] synonym: "vitreous humor disease or disorder" EXACT [MONDO:patterns/location] synonym: "vitreous humour disease" EXACT OMO:0003005 [] synonym: "vitreous humour disease or disorder" EXACT OMO:0003005 [] xref: DOID:9720 {source="MONDO:equivalentTo"} xref: ICD9:379.24 {source="DOID:9720"} is_a: EFO:0008624 ! vitreous body disease property_value: exactMatch DOID:9720 [Term] id: MONDO:0004863 name: purulent endophthalmitis xref: DOID:9724 {source="MONDO:equivalentTo"} xref: ICD10CM:H44.0 {source="DOID:9724", source="MONDO:equivalentTo"} xref: ICD9:360.0 {source="DOID:9724"} xref: ICD9:360.00 {source="DOID:9724", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:41720003 {source="DOID:9724", source="MONDO:equivalentTo"} xref: UMLS:C0259800 {source="DOID:9724", source="MONDO:equivalentTo"} is_a: MONDO:0016047 {source="DOID:9724"} ! endophthalmitis property_value: exactMatch DOID:9724 property_value: exactMatch http://identifiers.org/snomedct/41720003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0259800 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H44.0 [Term] id: MONDO:0004867 name: upper respiratory tract disorder def: "A disease involving the upper respiratory tract." [https://orcid.org/0000-0002-6601-2165] synonym: "disease of upper respiratory tract" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of upper respiratory tract" EXACT [] synonym: "disorder of upper respiratory tract" EXACT [MONDO:patterns/location_top] synonym: "upper respiratory tract disease" EXACT [MONDO:patterns/location] synonym: "upper respiratory tract disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:974 {source="MONDO:equivalentTo"} xref: ICD9:478.1 {source="DOID:974"} xref: ICD9:478.19 {source="DOID:974"} xref: ICD9:478.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:201060008 {source="MONDO:equivalentTo"} is_a: EFO:0000684 {source="DOID:974", source="MONDO:Redundant"} ! respiratory system disease property_value: exactMatch DOID:974 property_value: exactMatch http://identifiers.org/snomedct/201060008 [Term] id: MONDO:0004869 name: pelvic varices def: "A varicose disease that involves the pelvic region of trunk." [MONDO:patterns/location] synonym: "pelvic region of trunk varicose disease" EXACT [MONDO:patterns/location] synonym: "varicose disease of pelvic region of trunk" EXACT [MONDO:design_pattern] xref: DOID:9742 {source="MONDO:equivalentTo"} xref: ICD10CM:I86.2 {source="MONDO:equivalentTo", source="DOID:9742"} xref: ICD9:456.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9742"} xref: SCTID:17406005 {source="MONDO:equivalentTo", source="DOID:9742"} xref: UMLS:C0155795 {source="MONDO:equivalentTo", source="DOID:9742"} is_a: MONDO:0008638 {source="DOID:9742", source="MONDO:Redundant"} ! varicose disease property_value: exactMatch DOID:9742 property_value: exactMatch http://identifiers.org/snomedct/17406005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155795 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/I86.2 [Term] id: MONDO:0004874 name: ganglion or cyst of synovium/tendon/bursa xref: DOID:9754 {source="MONDO:equivalentTo"} xref: ICD9:727.49 {source="DOID:9754"} is_a: EFO:1000999 {source="DOID:9754"} ! joint disease property_value: exactMatch DOID:9754 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0004880 name: bowel dysfunction def: "Any disease in which the causes of the disease is a perturbation of the lower digestive tract leading to its dysfunction." [MONDO:patterns/disease_by_dysfunctional_structure] synonym: "disease of lower digestive tract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_by_dysfunctional_structure] synonym: "lower digestive tract disease" EXACT [MONDO:design_pattern] xref: DOID:9779 {source="MONDO:equivalentTo"} xref: ICD9:564.9 {source="DOID:9779"} xref: SCTID:235594008 {source="MONDO:equivalentTo"} xref: UMLS:C2004461 {source="MONDO:equivalentTo"} is_a: EFO:0009431 {source="DOID:9779"} ! intestinal disease property_value: exactMatch DOID:9779 property_value: exactMatch http://identifiers.org/snomedct/235594008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2004461 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0004884 name: eye degenerative disorder def: "A neurodegenerative disease that involves the eye." [MONDO:patterns/location] synonym: "degenerative disorder of eye" EXACT [] synonym: "degenerative disorder of globe" RELATED [] synonym: "eye neurodegenerative disease" EXACT [MONDO:patterns/location] synonym: "eyeball of camera-type eye neurodegenerative disease" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "neurodegenerative disease of eyeball of camera-type eye" EXACT [MONDO:design_pattern] xref: DOID:9799 {source="MONDO:equivalentTo"} xref: ICD10CM:H44.5 {source="DOID:9799", source="MONDO:equivalentTo"} xref: ICD9:360.2 {source="DOID:9799"} xref: ICD9:360.20 {source="DOID:9799", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:360.29 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:360.4 {source="DOID:9799"} xref: ICD9:360.40 {source="DOID:9799"} xref: SCTID:62585004 {source="DOID:9799", source="MONDO:equivalentTo"} xref: UMLS:C0154777 {source="DOID:9799", source="MONDO:equivalentTo"} is_a: EFO:0003966 {source="DOID:9799", source="MONDO:Redundant"} ! eye disease is_a: EFO:0005772 {source="DOID:9799", source="MONDO:Redundant"} ! neurodegenerative disease property_value: exactMatch DOID:9799 property_value: exactMatch http://identifiers.org/snomedct/62585004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154777 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H44.5 [Term] id: MONDO:0004885 name: choroidal sclerosis def: "A neurodegenerative disease that involves the optic choroid." [MONDO:patterns/location] synonym: "choroidal degenerations" EXACT [DOID:980, ICD9CM:363.4] synonym: "neurodegenerative disease of optic choroid" EXACT [MONDO:design_pattern] synonym: "optic choroid neurodegenerative disease" EXACT [MONDO:patterns/location] xref: DOID:980 {source="MONDO:equivalentTo"} xref: ICD9:363.4 {source="DOID:980"} xref: ICD9:363.40 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:980"} xref: MESH:C535358 {source="MONDO:equivalentTo", source="DOID:980"} xref: SCTID:406446000 {source="MONDO:equivalentTo", source="DOID:980"} is_a: MONDO:0001898 {source="MESH:C535358", source="MONDO:Redundant"} ! optic choroid disorder is_a: MONDO:0004884 {source="DOID:980", source="MONDO:Redundant"} ! eye degenerative disorder is_a: MONDO:0043218 ! neurovascular disorder property_value: exactMatch DOID:980 property_value: exactMatch http://identifiers.org/mesh/C535358 property_value: exactMatch http://identifiers.org/snomedct/406446000 [Term] id: MONDO:0004891 name: hyperopia def: "A refractive error in which rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. It is also called farsightedness because the near point is more distant than it is in emmetropia with an equal amplitude of accommodation. (Dorland, 27th ed)" [MESH:D006956] synonym: "Far-sightedness" EXACT [DOID:9834] synonym: "hypermetropia" EXACT [DOID:9834, ICD9CM:367.0] xref: DOID:9834 {source="MONDO:equivalentTo"} xref: ICD10CM:H52.0 {source="DOID:9834", source="MONDO:equivalentTo"} xref: ICD9:367.0 {source="DOID:9834", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D006956 {source="DOID:9834", source="MONDO:equivalentTo"} xref: SCTID:38101003 {source="DOID:9834", source="MONDO:equivalentTo"} xref: UMLS:C0020490 {source="DOID:9834", source="MONDO:equivalentTo"} is_a: MONDO:0004892 {source="DOID:9834", source="MESH:D006956"} ! refractive error property_value: exactMatch DOID:9834 property_value: exactMatch http://identifiers.org/mesh/D006956 property_value: exactMatch http://identifiers.org/snomedct/38101003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020490 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H52.0 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0004892 name: refractive error def: "A defect in the focusing of light on the retina as in astigmatism, myopia, or hyperopia." [NCIT:P378] xref: DOID:9835 {source="MONDO:equivalentTo"} xref: MESH:D012030 {source="DOID:9835", source="MONDO:equivalentTo"} xref: SCTID:39021009 {source="DOID:9835", source="MONDO:equivalentTo"} is_a: EFO:0003966 {source="DOID:9835", source="MESH:D012030"} ! eye disease property_value: exactMatch DOID:9835 property_value: exactMatch DOID:9835 property_value: exactMatch http://identifiers.org/mesh/D012030 property_value: exactMatch http://identifiers.org/mesh/D012030 property_value: exactMatch http://identifiers.org/snomedct/39021009 property_value: exactMatch http://identifiers.org/snomedct/39021009 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0004897 name: hypotropia def: "Vertical strabismus in which there is permanent downward deviation of the visual axis of one eye." [NCIT:P378] synonym: "downward ocular deviation" EXACT [NCIT:C42086] synonym: "hypotropia" EXACT [NCIT:C42086] synonym: "sunset sign" EXACT [NCIT:C42086] xref: DOID:9841 {source="MONDO:equivalentTo"} xref: ICD9:378.32 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9841"} xref: NCIT:C42086 {source="MONDO:equivalentTo", source="DOID:9841"} xref: SCTID:29491004 {source="MONDO:equivalentTo", source="DOID:9841"} xref: UMLS:C0152208 {source="MONDO:equivalentTo", source="NCIT:C42086", source="DOID:9841"} is_a: EFO:1001990 ! ocular motility disease property_value: exactMatch DOID:9841 property_value: exactMatch http://identifiers.org/snomedct/29491004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152208 property_value: exactMatch NCIT:C42086 [Term] id: MONDO:0004900 name: peripheral vertigo xref: DOID:9847 {source="MONDO:equivalentTo"} xref: ICD9:386.1 {source="DOID:9847"} xref: ICD9:386.10 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:386.19 {source="MONDO:relatedTo", source="DOID:9847", source="MONDO:i2s"} xref: SCTID:50438001 {source="MONDO:equivalentTo"} xref: UMLS:C0155501 {source="MONDO:equivalentTo"} is_a: EFO:0009691 {source="DOID:9847"} ! vestibular disease property_value: exactMatch DOID:9847 property_value: exactMatch http://identifiers.org/snomedct/50438001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155501 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0004907 name: alopecia def: "Hair loss usually from the scalp. It may result in bald spots or spread to the entire scalp or the entire epidermis. It may be androgenetic or caused by chemotherapeutic agents, compulsive hair pulling, autoimmune disorders or congenital conditions." [NCIT:C50575] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79364"} synonym: "alopecia" EXACT [MONDO:0019279] synonym: "alopecia areata" NARROW [NCIT:C50575] synonym: "hair loss" EXACT [NCIT:C50575] synonym: "loss Of hair" EXACT [NCIT:C50575] xref: DOID:987 {source="MONDO:equivalentTo"} xref: ICD9:704.0 {source="DOID:987"} xref: ICD9:704.00 {source="DOID:987", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:704.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D000505 {source="DOID:987", source="MONDO:equivalentTo"} xref: NCIT:C50575 {source="DOID:987", source="MONDO:equivalentTo"} xref: Orphanet:79364 {source="MONDO:equivalentTo"} xref: SCTID:56317004 {source="DOID:987", source="MONDO:equivalentTo"} xref: UMLS:C0002170 {source="DOID:987", source="MONDO:equivalentTo", source="Orphanet:79364", source="NCIT:C50575"} is_a: MONDO:0019278 {source="Orphanet:79364"} ! hair anomaly property_value: exactMatch DOID:987 property_value: exactMatch http://identifiers.org/mesh/D000505 property_value: exactMatch http://identifiers.org/snomedct/56317004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002170 property_value: exactMatch NCIT:C50575 property_value: exactMatch Orphanet:79364 property_value: excluded_subClassOf MONDO:0003037 {source="DOID:987", source="MESH:D000505"} [Term] id: MONDO:0004917 name: internal hordeolum def: "A hordeolum that results from infection of a meibomian gland." [https://www.merckmanuals.com/professional/eye-disorders/eyelid-and-lacrimal-disorders/chalazion-and-hordeolum-stye] synonym: "hordeolum internum" RELATED [] synonym: "hordeolum of tarsal gland" EXACT [MONDO:design_pattern] synonym: "infected chalazion" RELATED [] synonym: "infected cyst of meibomian gland" RELATED [] synonym: "infected meibomian cyst" RELATED [] synonym: "infection of meibomian gland" RELATED [] synonym: "internal hordeolum" EXACT [] synonym: "meibomian adenitis" RELATED [] synonym: "tarsal gland hordeolum" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:9908 {source="MONDO:equivalentTo"} xref: ICD9:373.12 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9908"} xref: SCTID:414521009 {source="MONDO:equivalentTo", source="DOID:9908"} xref: UMLS:C0085690 {source="MONDO:equivalentTo", source="DOID:9908"} is_a: EFO:0007315 {source="DOID:9908", source="MONDO:Redundant"} ! hordeolum is_a: EFO:1000763 ! sebaceous gland disease is_a: MONDO:0024481 ! skin appendage disorder property_value: exactMatch DOID:9908 property_value: exactMatch http://identifiers.org/snomedct/414521009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085690 [Term] id: MONDO:0004928 name: lymph node disorder def: "Any disorder of the lymph nodes." [NCIT:C35346] synonym: "disease of lymph node" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of lymph node" EXACT [] synonym: "disorder of lymph node" EXACT [MONDO:patterns/location_top] synonym: "lymph node disease" EXACT [MONDO:patterns/location] synonym: "lymph node disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "lymph node disorder" EXACT [NCIT:C35346] xref: DOID:9942 {source="MONDO:equivalentTo"} xref: NCIT:C35346 {source="DOID:9942", source="MONDO:equivalentTo"} xref: SCTID:76616003 {source="DOID:9942", source="MONDO:equivalentTo"} xref: UMLS:C0272394 {source="DOID:9942", source="MONDO:equivalentTo", source="NCIT:C35346"} is_a: EFO:0007352 {source="DOID:9942"} ! lymphatic system disease property_value: exactMatch DOID:9942 property_value: exactMatch http://identifiers.org/snomedct/76616003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272394 property_value: exactMatch NCIT:C35346 [Term] id: MONDO:0004933 name: hypoplastic left heart syndrome def: "Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis." [Orphanet:2248] comment: prototype_pattern subset: ordo_morphological_anomaly {source="Orphanet:2248"} synonym: "HLHS" EXACT ABBREVIATION [Orphanet:2248] xref: DOID:9955 {source="MONDO:equivalentTo"} xref: ICD10CM:Q23.4 {source="DOID:9955", source="MONDO:equivalentTo", source="Orphanet:2248/e"} xref: ICD9:746.7 {source="DOID:9955", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10021076 {source="Orphanet:2248/e"} xref: MESH:D018636 {source="DOID:9955", source="MONDO:equivalentTo", source="Orphanet:2248/e"} xref: NCIT:C98894 {source="DOID:9955", source="MONDO:equivalentTo"} xref: OMIMPS:241550 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:2248 {source="MONDO:equivalentTo", source="OMIM:241550"} xref: SCTID:62067003 {source="DOID:9955", source="MONDO:equivalentTo"} xref: UMLS:C0152101 {source="DOID:9955", source="MONDO:equivalentTo", source="NCIT:C98894", source="Orphanet:2248/e"} is_a: EFO:0005207 {source="DOID:9955", source="MESH:D018636"} ! congenital heart disease is_a: EFO:0005938 ! congenital left-sided heart lesions is_a: MONDO:0002254 {source="NCIT:C98894"} ! syndromic disease is_a: MONDO:0019820 {source="Orphanet:2248"} ! univentricular cardiopathy property_value: closeMatch http://identifiers.org/meddra/10021076 property_value: exactMatch DOID:9955 property_value: exactMatch http://identifiers.org/mesh/D018636 property_value: exactMatch http://identifiers.org/snomedct/62067003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152101 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q23.4 property_value: exactMatch https://omim.org/phenotypicSeries/PS241550 property_value: exactMatch NCIT:C98894 property_value: exactMatch Orphanet:2248 [Term] id: MONDO:0004938 name: substance dependence def: "The psychological or physiological need to take a substance in order to experience its effects or to avoid the effects of its absence." [NCIT:P378] synonym: "dependence" EXACT [NCIT:C35458] xref: DOID:9973 {source="MONDO:equivalentTo"} xref: ICD9:304.60 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C35458 {source="MONDO:equivalentTo", source="DOID:9973"} xref: SCTID:2403008 {source="MONDO:equivalentTo"} is_a: MONDO:0002494 {source="DOID:9973"} ! substance-related disorder property_value: exactMatch DOID:9973 property_value: exactMatch http://identifiers.org/snomedct/2403008 property_value: exactMatch NCIT:C35458 [Term] id: MONDO:0004943 name: orbit sarcoma def: "A malignant soft tissue neoplasm that arises from the structures of the orbit. The majority of the cases are rhabdomyosarcomas." [NCIT:P378] synonym: "orbit of skull sarcoma" EXACT [MONDO:patterns/location] synonym: "orbital sarcoma" EXACT [DOID:9987, NCIT:C6095] synonym: "sarcoma of orbit" EXACT [NCIT:C6095] synonym: "sarcoma of orbit of skull" EXACT [MONDO:patterns/sarcoma] synonym: "sarcoma of the orbit" EXACT [NCIT:C6095] xref: DOID:9987 {source="MONDO:equivalentTo"} xref: NCIT:C6095 {source="DOID:9987", source="MONDO:equivalentTo"} xref: SCTID:699354006 {source="DOID:9987", source="MONDO:equivalentTo"} xref: UMLS:C1335131 {source="DOID:9987", source="MONDO:equivalentTo", source="NCIT:C6095"} is_a: EFO:0000691 {source="MONDO:Redundant", source="NCIT:C6095/inferred"} ! sarcoma is_a: EFO:0007408 {source="DOID:9987", source="MONDO:Redundant", source="NCIT:C6095"} ! orbital cancer property_value: exactMatch DOID:9987 property_value: exactMatch http://identifiers.org/snomedct/699354006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335131 property_value: exactMatch NCIT:C6095 [Term] id: MONDO:0004944 name: neurosyphilis def: "Infection of the brain or spinal cord by Treponema pallidum. It occurs many years following the original infection which remained untreated. Signs and symptoms include abnormal gait, blindness, depression, paralysis, seizures and dementia." [NCIT:C84935] subset: gard_rare synonym: "late neurosyphilis" EXACT [DOID:9988] synonym: "neurosyphilis" EXACT [NCIT:C84935] synonym: "tertiary neurosyphilis" EXACT [DOID:9988] xref: DOID:9988 {source="MONDO:equivalentTo"} xref: ICD10CM:A52.3 {source="DOID:9988", source="MONDO:equivalentTo"} xref: ICD9:094 {source="DOID:9988"} xref: ICD9:094.89 xref: ICD9:094.9 {source="DOID:9988"} xref: MESH:D009494 {source="https://orcid.org/0000-0003-1967-3726", source="DOID:9988", source="MONDO:equivalentTo"} xref: NCIT:C84935 {source="DOID:9988", source="MONDO:equivalentTo"} xref: SCTID:26039008 {source="DOID:9988", source="MONDO:equivalentTo"} xref: UMLS:C0027927 {source="DOID:9988", source="NCIT:C84935", source="GARD:0008729", source="MONDO:equivalentTo"} is_a: MONDO:0004497 {source="DOID:9988"} ! tertiary syphilis property_value: exactMatch DOID:9988 property_value: exactMatch http://identifiers.org/mesh/D009494 property_value: exactMatch http://identifiers.org/snomedct/26039008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027927 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A52.3 property_value: exactMatch NCIT:C84935 [Term] id: MONDO:0004951 name: susceptibility to HIV infection def: "The type species of lentivirus and the etiologic agent of acquired immunodeficiency syndrome (AIDS). It is characterized by its cytopathic effect and affinity for the T4-lymphocyte." [NCIT:P378] subset: predisposition synonym: "acquired immunodeficiency syndrome, progression to" RELATED [OMIM:609423] synonym: "AIDS, delayed/rapid progression to" EXACT [OMIM:609423, OMIM:genemap2] synonym: "AIDS, progression to" RELATED [OMIM:609423] synonym: "AIDS, rapid progression to" EXACT [OMIM:609423, OMIM:genemap2] synonym: "AIDS, resistance to" EXACT [OMIM:609423, OMIM:genemap2] synonym: "AIDS, slow progression to" EXACT [OMIM:609423, OMIM:genemap2] synonym: "HIV infection, resistance to" EXACT [OMIM:609423, OMIM:genemap2] synonym: "HIV type 1, susceptibility to" EXACT [OMIM:609423, OMIM:genemap2] synonym: "HIV-1 disease, delayed progression of" EXACT [OMIM:609423, OMIM:genemap2] synonym: "HIV-1 disease, rapid progression of" EXACT [OMIM:609423, OMIM:genemap2] synonym: "HIV-1 viremia, susceptibility to" EXACT [OMIM:609423, OMIM:genemap2] synonym: "HIV-1, resistance to" RELATED [OMIM:609423] synonym: "HIV-1, susceptibility to" RELATED [OMIM:609423] synonym: "HIV/AIDS, susceptibility to" EXACT [OMIM:609423, OMIM:genemap2] synonym: "HIV1 infection, resistance to" EXACT [OMIM:609423, OMIM:genemap2] synonym: "HIV1, resistance to" EXACT [OMIM:609423, OMIM:genemap2] synonym: "human immunodeficiency virus type 1, resistance to" RELATED [OMIM:609423] synonym: "human immunodeficiency virus type 1, susceptibility to" RELATED [OMIM:609423] synonym: "rapid progression to AIDS from HIV1 infection" EXACT [OMIM:609423, OMIM:genemap2] xref: EFO:0000180 {source="MONDO:relatedTo"} xref: NCIT:C14220 {source="MONDO:relatedTo", source="MONDO:otherHierarchy", source="EFO:0000180"} xref: OMIM:609423 {source="MONDO:equivalentTo", source="EFO:0000180"} xref: UMLS:CN282826 {source="MONDO:equivalentTo"} is_a: MONDO:0015979 ! hereditary predisposition to infections intersection_of: MONDO:0015979 ! hereditary predisposition to infections intersection_of: predisposes_towards EFO:0000764 ! HIV infection relationship: disease_has_feature EFO:0000765 ! AIDS relationship: predisposes_towards EFO:0000764 ! HIV infection property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN282826 property_value: exactMatch https://omim.org/entry/609423 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: relatedMatch NCIT:C14220 [Term] id: MONDO:0004975 name: Alzheimer disease def: "A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language." [NCIT:P378] synonym: "AD" EXACT ABBREVIATION [DOID:10652] synonym: "Alzheimer dementia" EXACT [NCIT:C2866] synonym: "Alzheimer disease" EXACT [DOID:10652, NCIT:C2866] synonym: "Alzheimer disease, familial" NARROW [DOID:10652, MESH:C536597] synonym: "Alzheimer's dementia" EXACT [NCIT:C2866] synonym: "Alzheimer's disease" EXACT [ISBN-13:978-1-259-64403-0, NCIT:C2866] synonym: "Alzheimers dementia" EXACT [DOID:10652, NCIT:C2866] synonym: "Alzheimers disease" EXACT [DOID:10652] synonym: "presenile and senile dementia" EXACT [OMIM:104300] xref: DOID:10652 {source="MONDO:equivalentTo", source="EFO:0000249"} xref: EFO:0000249 {source="MONDO:equivalentTo", source="DOID:10652"} xref: HP:0002511 {source="MONDO:otherHierarchy"} xref: ICD10CM:G30 {source="MONDO:equivalentTo", source="DOID:10652"} xref: ICD9:290.1 {source="EFO:0000249"} xref: ICD9:331.0 {source="EFO:0000249", source="DOID:10652"} xref: MESH:D000544 {source="MONDO:equivalentTo", source="EFO:0000249", source="DOID:10652"} xref: NCIT:C2866 {source="MONDO:equivalentTo", source="EFO:0000249", source="DOID:10652"} xref: NIFSTD:birnlex_2092 {source="EFO:0000249"} xref: Orphanet:238616 {source="MONDO:equivalentObsolete"} xref: SCTID:142811000119104 {source="MONDO:equivalentTo"} xref: UMLS:C0002395 {source="MONDO:cjm", source="MONDO:equivalentTo", source="MONDO:notFoundInDiseaseSubset", source="DOID:10652", source="NCIT:C2866"} is_a: EFO:0005815 {source="DOID:10652", source="MESH:D000544"} ! tauopathy is_a: MONDO:0001627 {source="MESH:D000544", source="NCIT:C2866"} ! dementia property_value: exactMatch DOID:10652 property_value: exactMatch DOID:10652 property_value: exactMatch http://identifiers.org/mesh/D000544 property_value: exactMatch http://identifiers.org/mesh/D000544 property_value: exactMatch http://identifiers.org/snomedct/142811000119104 property_value: exactMatch http://identifiers.org/snomedct/142811000119104 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002395 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002395 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G30 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G30 property_value: exactMatch NCIT:C2866 property_value: exactMatch NCIT:C2866 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4013 xsd:anyURI [Term] id: MONDO:0004976 name: amyotrophic lateral sclerosis def: "Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord." [Orphanet:803] subset: ordo_disease {source="Orphanet:803"} synonym: "ALS" EXACT ABBREVIATION [DOID:332, NCIT:C34373, Orphanet:803] synonym: "amyotrophic lateral sclerosis" EXACT [] synonym: "Charcot disease" EXACT [Orphanet:803] synonym: "Lou Gehrig disease" EXACT [Orphanet:803] synonym: "Lou Gehrig's disease" EXACT [DOID:332] synonym: "motor neuron disease, bulbar" EXACT [DOID:332] xref: DOID:332 {source="EFO:0000253", source="MONDO:equivalentTo"} xref: EFO:0000253 {source="MONDO:equivalentTo", source="DOID:332"} xref: ICD10CM:G12.21 {source="MONDO:equivalentTo", source="DOID:332"} xref: ICD9:335.20 {source="EFO:0000253", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:332"} xref: MedDRA:10002026 {source="Orphanet:803", source="Orphanet:803/e"} xref: MESH:D000690 {source="EFO:0000253", source="MONDO:equivalentTo", source="Orphanet:803", source="DOID:332", source="Orphanet:803/e"} xref: NCIT:C34373 {source="EFO:0000253", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:332"} xref: NIFSTD:birnlex_12566 {source="EFO:0000253"} xref: Orphanet:803 {source="MONDO:equivalentTo", source="DOID:332"} xref: SCTID:86044005 {source="EFO:0000253", source="MONDO:equivalentTo", source="DOID:332"} xref: UMLS:C0002736 {source="NCIT:C34373", source="MONDO:equivalentTo", source="Orphanet:803", source="DOID:332", source="Orphanet:803/e"} is_a: EFO:0003782 {source="DOID:332", source="ICD10CM:G12.21", source="MESH:D000690", source="MONDO:Redundant", source="Orphanet:803"} ! motor neuron disease is_a: MONDO:0003182 {source="Wikipedia:Anterior_horn_disease"} ! anterior horn disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0015918"} ! rare property_value: closeMatch http://identifiers.org/meddra/10002026 property_value: closeMatch http://identifiers.org/meddra/10002026 property_value: exactMatch DOID:332 property_value: exactMatch DOID:332 property_value: exactMatch http://identifiers.org/mesh/D000690 property_value: exactMatch http://identifiers.org/mesh/D000690 property_value: exactMatch http://identifiers.org/snomedct/86044005 property_value: exactMatch http://identifiers.org/snomedct/86044005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002736 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002736 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G12.21 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G12.21 property_value: exactMatch NCIT:C34373 property_value: exactMatch NCIT:C34373 property_value: exactMatch Orphanet:803 property_value: exactMatch Orphanet:803 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0004979 name: asthma def: "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety." [EFO:0000270] synonym: "bronchial hyperreactivity" EXACT [DOID:2841] synonym: "chronic obstructive asthma" NARROW [DOID:2841] synonym: "chronic obstructive asthma with acute exacerbation" NARROW [DOID:2841] synonym: "chronic obstructive asthma with status asthmaticus" NARROW [DOID:2841] synonym: "exercise induced asthma" NARROW [DOID:2841] synonym: "exercise-induced asthma" NARROW [DOID:2841] xref: DOID:2841 {source="MONDO:equivalentTo", source="EFO:0000270"} xref: EFO:0000270 {source="MONDO:equivalentTo", source="DOID:2841"} xref: HP:0002099 {source="MONDO:otherHierarchy"} xref: ICD10CM:J45 {source="MONDO:equivalentTo", source="DOID:2841"} xref: ICD9:493 {source="DOID:2841", source="EFO:0000270"} xref: ICD9:493.81 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:493.9 {source="DOID:2841"} xref: MESH:D001249 {source="MONDO:equivalentTo", source="DOID:2841", source="EFO:0000270"} xref: NCIT:C28397 {source="MONDO:equivalentTo", source="DOID:2841", source="EFO:0000270"} xref: SCTID:31387002 {source="MONDO:equivalentTo"} xref: UMLS:C0004096 {source="NCIT:C28397", source="MONDO:equivalentTo", source="DOID:2841"} is_a: EFO:1002018 {source="DOID:2841", source="EFO:0000270", source="MESH:D001249"} ! bronchial disease property_value: exactMatch DOID:2841 property_value: exactMatch DOID:2841 property_value: exactMatch http://identifiers.org/mesh/D001249 property_value: exactMatch http://identifiers.org/mesh/D001249 property_value: exactMatch http://identifiers.org/snomedct/31387002 property_value: exactMatch http://identifiers.org/snomedct/31387002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004096 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004096 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/J45 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/J45 property_value: exactMatch NCIT:C28397 property_value: exactMatch NCIT:C28397 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0004985 name: bipolar disorder def: "A disorder of the brain that causes unusual shifts in mood, energy, activity levels and the ability to carry out day-to-day tasks. Often these moods range and shift from periods of elation and energized behavior to those of hopelessness and depression." [NCIT:C34423] synonym: "bipolar affective disorder" RELATED [] synonym: "bipolar depression" NARROW [DOID:3312] synonym: "bipolar disorder" EXACT [NCIT:C34423] synonym: "bipolar disorder manic phase" NARROW [DOID:3312] synonym: "depressive-manic psych." RELATED [DOID:3312] synonym: "MAFD" RELATED ABBREVIATION [] synonym: "major affective disorder" EXACT [MONDO:0000055] synonym: "major bipolar affective disorder" RELATED [] synonym: "manic bipolar affective disorder" NARROW [DOID:3312, NCIT:C34805] synonym: "manic bipolar I disorder" NARROW [DOID:3312] synonym: "manic depression" NARROW [DOID:3312] synonym: "manic depressive disorder" NARROW [DOID:3312, NCIT:C34423] synonym: "manic disorder" NARROW [DOID:3312] synonym: "manic-depression" EXACT [NCIT:C34423] synonym: "manic-depressive illness" RELATED [] synonym: "manic-depressive psychosis" RELATED [] synonym: "mixed bipolar disorder" NARROW [DOID:3312] xref: DOID:3312 {source="MONDO:equivalentTo", source="EFO:0000289"} xref: EFO:0000289 {source="DOID:3312", source="MONDO:equivalentTo"} xref: ICD10CM:F31 {source="DOID:3312", source="MONDO:equivalentTo"} xref: ICD10WHO:F31 {source="MONDO:equivalentTo"} xref: ICD9:296.40 {source="DOID:3312"} xref: ICD9:296.60 {source="DOID:3312"} xref: ICD9:296.80 {source="DOID:3312", source="MONDO:equivalentTo", source="EFO:0000289", source="MONDO:i2s"} xref: ICD9:296.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D001714 {source="DOID:3312", source="MONDO:equivalentTo", source="EFO:0000289"} xref: NCIT:C34423 {source="DOID:3312", source="MONDO:equivalentTo", source="EFO:0000289"} xref: NIFSTD:birnlex_12754 {source="EFO:0000289"} xref: SCTID:13746004 {source="DOID:3312", source="MONDO:equivalentTo", source="EFO:0000289"} xref: UMLS:C0005586 {source="DOID:3312", source="MONDO:equivalentTo", source="NCIT:C34423"} is_a: EFO:0004247 {source="DOID:3312", source="EFO:0000289", source="ICD10CM:F31", source="NCIT:C34423", source="NCIT:C34805/inferred"} ! mood disorder relationship: disease_has_feature MONDO:0004617 {source="MONDO:Wikidata"} ! recurrent hypersomnia property_value: exactMatch DOID:3312 property_value: exactMatch http://identifiers.org/mesh/D001714 property_value: exactMatch http://identifiers.org/snomedct/13746004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005586 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/F31 property_value: exactMatch https://icd.who.int/browse10/2019/en#/F31 property_value: exactMatch NCIT:C34423 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0004986 name: urinary bladder carcinoma def: "A carcinoma that arises from epithelial cells of the urinary bladder" [https://orcid.org/0000-0002-6601-2165] synonym: "bladder cancer" BROAD [NCIT:C4912] synonym: "bladder carcinoma" EXACT [MONDO:ambiguous, NCIT:C4912] synonym: "cancer of bladder" BROAD [NCIT:C4912] synonym: "cancer of the bladder" BROAD [NCIT:C4912] synonym: "cancer of the urinary bladder" BROAD [NCIT:C4912] synonym: "cancer of urinary bladder" BROAD [NCIT:C4912] synonym: "carcinoma bladder" EXACT [DOID:4007] synonym: "carcinoma of bladder" EXACT [DOID:4007, MTH:108, NCIT:C4912] synonym: "carcinoma of the bladder" EXACT [NCIT:C4912] synonym: "carcinoma of the urinary bladder" EXACT [NCIT:C4912] synonym: "carcinoma of urinary bladder" EXACT [DOID:4007, MONDO:patterns/carcinoma, NCIT:C4912] synonym: "urinary bladder cancer" BROAD [NCIT:C4912] synonym: "urinary bladder carcinoma" EXACT [MONDO:patterns/location, NCIT:C4912] xref: DOID:4007 {source="MONDO:equivalentTo", source="EFO:0000292"} xref: EFO:0000292 {source="MONDO:equivalentTo", source="DOID:4007"} xref: HP:0002862 {source="MONDO:otherHierarchy"} xref: NCIT:C4912 {source="MONDO:equivalentTo", source="DOID:4007", source="EFO:0000292"} xref: SCTID:255108000 {source="MONDO:equivalentTo", source="DOID:4007", source="EFO:0000292"} xref: UMLS:C0699885 {source="MONDO:equivalentTo", source="DOID:4007", source="NCIT:C4912"} is_a: EFO:0000313 {source="DOID:4007", source="EFO:0000292", source="MONDO:Redundant", source="NCIT:C4912"} ! carcinoma is_a: MONDO:0001187 {source="DOID:4007", source="MONDO:Redundant", source="NCIT:C4912"} ! urinary bladder cancer property_value: exactMatch DOID:4007 property_value: exactMatch DOID:4007 property_value: exactMatch http://identifiers.org/snomedct/255108000 property_value: exactMatch http://identifiers.org/snomedct/255108000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0699885 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0699885 property_value: exactMatch NCIT:C4912 property_value: exactMatch NCIT:C4912 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0004992 name: cancer def: "A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas." [NCIT:C9305] synonym: "CA" EXACT ABBREVIATION [NCIT:C9305] synonym: "cancer" EXACT [NCIT:C9305] synonym: "cell type cancer" EXACT [MONDO:0000404] synonym: "malignancy" EXACT [NCIT:C9305] synonym: "malignant Growth" EXACT [NCIT:C9305] synonym: "malignant neoplasm" EXACT [DOID:162, NCIT:C9305] synonym: "malignant neoplasm (disease)" EXACT [] synonym: "malignant neoplastic disease" EXACT [NCIT:C9305] synonym: "malignant tumor" EXACT [DOID:162, NCIT:C9305] synonym: "malignant tumour" EXACT OMO:0003005 [] synonym: "MT" RELATED ABBREVIATION [ONCOTREE:MT] synonym: "neoplasm (disease), malignant" EXACT [MONDO:patterns/malignant] synonym: "neoplasm, malignant" EXACT [NCIT:C9305] synonym: "organ system cancer" EXACT [MONDO:0000403] synonym: "primary cancer" EXACT [DOID:162] xref: DOID:0050686 {source="MONDO:equivalentTo"} xref: DOID:0050687 {source="MONDO:equivalentTo"} xref: DOID:162 {source="MONDO:equivalentTo", source="EFO:0000311"} xref: EFO:0000311 {source="MONDO:equivalentTo"} xref: ICD9:195.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:199 {source="DOID:162"} xref: ICD9:199.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8000/3 {source="NCIT:C9305"} xref: NCIT:C9305 {source="MONDO:equivalentTo", source="EFO:0000311", source="DOID:162"} xref: NIFSTD:birnlex_406 {source="EFO:0000311"} xref: ONCOTREE:MT {source="MONDO:equivalentTo"} xref: SCTID:363346000 {source="MONDO:equivalentTo", source="DOID:162"} xref: UMLS:C0006826 {source="MONDO:equivalentTo", source="NCIT:C9305", source="DOID:162"} is_a: EFO:0000616 {source="DOID:0050686/inferred", source="DOID:0050687/inferred", source="DOID:162", source="EFO:0000311", source="MONDO:Redundant", source="NCIT:C9305/inferred"} ! neoplasm disjoint_from: EFO:0002422 ! benign neoplasm property_value: exactMatch DOID:0050686 property_value: exactMatch DOID:0050687 property_value: exactMatch DOID:162 property_value: exactMatch http://identifiers.org/snomedct/363346000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006826 property_value: exactMatch NCIT:C9305 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0005041 name: glaucoma def: "Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor." [NCIT:P378] synonym: "glaucoma" EXACT [MONDO:ambiguous] synonym: "glaucoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:1686 {source="MONDO:equivalentTo", source="EFO:0000516"} xref: EFO:0000516 {source="MONDO:equivalentTo", source="DOID:1686"} xref: HP:0000501 {source="MONDO:otherHierarchy"} xref: ICD10CM:H40-H42 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="DOID:1686", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:365 {source="DOID:1686", source="EFO:0000516"} xref: ICD9:365.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:365.9 {source="MONDO:equivalentTo", source="DOID:1686", source="MONDO:i2s"} xref: MESH:D005901 {source="MONDO:equivalentTo", source="DOID:1686", source="EFO:0000516"} xref: NCIT:C26782 {source="MONDO:equivalentTo", source="DOID:1686", source="EFO:0000516"} xref: SCTID:23986001 {source="MONDO:equivalentTo", source="DOID:1686", source="EFO:0000516"} xref: UMLS:C0017601 {source="NCIT:C26782", source="MONDO:equivalentTo", source="DOID:1686"} is_a: EFO:0003966 {source="DOID:1686", source="MESH:D005901/inferred", source="NCIT:C26782/inferred"} ! eye disease relationship: EFO:0000784 UBERON:0000970 ! has_disease_location eye property_value: exactMatch DOID:1686 property_value: exactMatch http://identifiers.org/mesh/D005901 property_value: exactMatch http://identifiers.org/snomedct/23986001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017601 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H40-H42 property_value: exactMatch NCIT:C26782 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000589 "glaucoma (disease)" xsd:string [Term] id: MONDO:0005044 name: hypertensive disorder is_a: MONDO:0000473 ! arterial disorder property_value: exactMatch DOID:10763 property_value: exactMatch http://identifiers.org/mesh/D006973 property_value: exactMatch http://identifiers.org/snomedct/38341003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020538 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/I10-I16 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/I15 property_value: exactMatch NCIT:C3117 [Term] id: MONDO:0005053 name: ischemic disease def: "Lack of blood supply to an area of the body, resulting in impairment of tissue oxygenation." [NCIT:C34738] comment: Editor note: represented as a finding in other ontologies synonym: "ischemia" RELATED [DOID:326, NCIT:C34738] xref: DOID:326 {source="MONDO:equivalentTo", source="EFO:0000556"} xref: EFO:0000556 {source="MONDO:equivalentTo"} xref: MESH:D007511 {source="DOID:326", source="MONDO:equivalentTo", source="EFO:0000556"} xref: MESH:D054058 {source="DOID:326", source="MONDO:relatedTo"} xref: NCIT:C34738 {source="DOID:326", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="EFO:0000556"} xref: SCTID:52674009 {source="DOID:326", source="MONDO:equivalentTo", source="EFO:0000556"} is_a: EFO:0004264 {source="DOID:326"} ! vascular disease property_value: exactMatch DOID:326 property_value: exactMatch http://identifiers.org/mesh/D007511 property_value: exactMatch http://identifiers.org/snomedct/52674009 property_value: exactMatch NCIT:C34738 [Term] id: MONDO:0005090 name: schizophrenia def: "A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality." [NCIT:P378] synonym: "schizoaffective disorder" RELATED [OMIM:181500] synonym: "schizophrenia" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:181500] synonym: "schizophrenia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "schizophrenia 12" BROAD [OMIM:181500, OMIM:genemap2] synonym: "schizophrenia with or without an affective disorder" RELATED [OMIM:181500] synonym: "schizophrenia, susceptibility to" RELATED [OMIM:181500, OMIM:genemap2] synonym: "schizophrenia-1" EXACT [DOID:5419] synonym: "SCZD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:181500] xref: DOID:5419 {source="EFO:0000692", source="MONDO:equivalentTo"} xref: EFO:0000692 {source="MONDO:equivalentTo", source="DOID:5419"} xref: HP:0100753 {source="MONDO:otherHierarchy", source="DOID:5419"} xref: ICD9:295 {source="EFO:0000692"} xref: ICD9:295.8 {source="EFO:0000692", source="DOID:5419"} xref: ICD9:295.80 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:5419"} xref: ICD9:295.85 {source="EFO:0000692"} xref: ICD9:295.9 {source="EFO:0000692"} xref: ICD9:295.90 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3362 {source="EFO:0000692", source="MONDO:equivalentTo"} xref: NIFSTD:birnlex_2104 {source="EFO:0000692"} xref: OMIM:181500 {source="EFO:0000692", source="MONDO:equivalentTo", source="DOID:5419"} xref: Orphanet:3140 {source="MONDO:equivalentObsolete"} xref: SCTID:58214004 {source="EFO:0000692", source="MONDO:equivalentTo"} is_a: EFO:0005407 {source="DOID:5419", source="MONDO:cjm"} ! psychosis property_value: exactMatch DOID:5419 property_value: exactMatch DOID:5419 property_value: exactMatch http://identifiers.org/snomedct/58214004 property_value: exactMatch http://identifiers.org/snomedct/58214004 property_value: exactMatch https://omim.org/entry/181500 property_value: exactMatch https://omim.org/entry/181500 property_value: exactMatch NCIT:C3362 property_value: exactMatch NCIT:C3362 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000589 "schizophrenia (disease)" xsd:string [Term] id: MONDO:0005094 name: hemangiopericytoma def: "An antiquated term that refers to benign or malignant mesenchymal neoplasms characterized by the presence of neoplastic spindle-shaped to round cells arranged around thin-walled branching vascular spaces." [NCIT:C3087] synonym: "haemangiopericytic meningioma" EXACT [DOID:264] synonym: "haemangiopericytic meningioma [obs]" EXACT [DOID:264] synonym: "hemangiopericytoma" EXACT [MONDO:0021188, NCIT:C3087] synonym: "hemangiopericytoma, malignant (morphologic abnormality)" NARROW [DOID:264] synonym: "malignant hemangiopericytoma" NARROW [DOID:264] xref: DOID:264 {source="MONDO:equivalentTo", source="EFO:0000705"} xref: ICDO:9150/1 {source="NCIT:C3087"} xref: MESH:D006393 {source="MONDO:equivalentTo", source="DOID:264", source="EFO:0000705"} xref: NCIT:C3087 {source="MONDO:equivalentTo", source="DOID:264", source="EFO:0000705"} xref: SCTID:134335004 {source="MONDO:equivalentTo", source="DOID:264", source="EFO:0000705"} is_a: EFO:1000289 {source="NCIT:C3087"} ! Hemangiopericytic Neoplasm property_value: exactMatch DOID:264 property_value: exactMatch http://identifiers.org/mesh/D006393 property_value: exactMatch http://identifiers.org/snomedct/134335004 property_value: exactMatch NCIT:C3087 property_value: excluded_subClassOf MONDO:0002176 {source="DOID:264"} [Term] id: MONDO:0005098 name: stroke disorder is_a: EFO:0003763 ! cerebrovascular disorder property_value: exactMatch http://identifiers.org/mesh/D020521 property_value: exactMatch http://identifiers.org/snomedct/230690007 property_value: exactMatch NCIT:C3390 [Term] id: MONDO:0005129 name: cataract def: "Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)" [NCIT:C26713] synonym: "cataract" EXACT [MONDO:ambiguous] synonym: "cataract (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "opacity of the lens" EXACT [NCIT:C26713] xref: DOID:83 {source="MONDO:equivalentTo", source="EFO:0001059"} xref: EFO:0001059 {source="MONDO:equivalentTo"} xref: HP:0000518 {source="MONDO:otherHierarchy"} xref: ICD9:366 {source="EFO:0001059"} xref: ICD9:366.44 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:366.8 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:83"} xref: ICD9:366.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D002386 {source="MONDO:equivalentTo", source="EFO:0001059", source="DOID:83"} xref: NCIT:C26713 {source="MONDO:equivalentTo", source="EFO:0001059", source="NCIT:C26713"} xref: OMIMPS:116200 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: SCTID:193570009 {source="MONDO:equivalentTo", source="EFO:0001059"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0009674 {source="DOID:83", source="MESH:D002386", source="NCIT:C26713"} ! lens disease property_value: exactMatch DOID:83 property_value: exactMatch DOID:83 property_value: exactMatch http://identifiers.org/mesh/D002386 property_value: exactMatch http://identifiers.org/mesh/D002386 property_value: exactMatch http://identifiers.org/snomedct/193570009 property_value: exactMatch http://identifiers.org/snomedct/193570009 property_value: exactMatch https://omim.org/phenotypicSeries/PS116200 property_value: exactMatch https://omim.org/phenotypicSeries/PS116200 property_value: exactMatch NCIT:C26713 property_value: exactMatch NCIT:C26713 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000589 "cataract (disease)" xsd:string [Term] id: MONDO:0005147 name: type 1 diabetes mellitus def: "A chronic condition characterized by minimal or absent production of insulin by the pancreas." [NCIT:C2986] synonym: "diabetes mellitis type 1" EXACT [] synonym: "diabetes mellitis type I" EXACT [] synonym: "IDDM" EXACT DEPRECATED [DOID:9744] synonym: "immune mediated diabetes" EXACT [NCIT:C2986] synonym: "insulin dependent diabetes" EXACT DEPRECATED [NCIT:C2986] synonym: "insulin-dependent diabetes mellitus" EXACT DEPRECATED [DOID:9744, Orphanet:243377] synonym: "juvenile diabetes" EXACT DEPRECATED [NCIT:C2986] synonym: "type 1 diabetes" EXACT [NCIT:C2986] synonym: "type I diabetes" EXACT [NCIT:C2986] synonym: "type I diabetes mellitus" EXACT [DOID:9744] xref: DOID:9744 {source="MONDO:equivalentTo", source="EFO:0001359"} xref: EFO:0001359 {source="DOID:9744", source="MONDO:equivalentTo"} xref: MESH:D003922 {source="DOID:9744", source="MONDO:equivalentTo", source="EFO:0001359"} xref: NCIT:C2986 {source="DOID:9744", source="MONDO:equivalentTo", source="EFO:0001359"} xref: OMIM:222100 {source="DOID:9744", source="MONDO:equivalentTo", source="EFO:0001359"} xref: Orphanet:243377 {source="MONDO:equivalentObsolete"} xref: SCTID:46635009 {source="DOID:9744", source="MONDO:equivalentTo", source="EFO:0001359"} is_a: EFO:0000400 {source="DOID:9744", source="EFO:0001359", source="MESH:D003922", source="NCIT:C2986"} ! diabetes mellitus is_a: MONDO:0000569 ! autoimmune disorder of endocrine system is_a: MONDO:0000588 ! autoimmune disorder of gastrointestinal tract relationship: disease_causes_feature EFO:1000897 ! diabetic ketoacidosis property_value: exactMatch DOID:9744 property_value: exactMatch DOID:9744 property_value: exactMatch http://identifiers.org/mesh/D003922 property_value: exactMatch http://identifiers.org/mesh/D003922 property_value: exactMatch http://identifiers.org/snomedct/46635009 property_value: exactMatch http://identifiers.org/snomedct/46635009 property_value: exactMatch https://omim.org/entry/222100 property_value: exactMatch https://omim.org/entry/222100 property_value: exactMatch NCIT:C2986 property_value: exactMatch NCIT:C2986 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0005148 name: type 2 diabetes mellitus def: "A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity." [NCIT:P378] synonym: "adult onset diabetes" EXACT DEPRECATED [NCIT:C26747] synonym: "adult-onset diabetes" EXACT DEPRECATED [NCIT:C26747] synonym: "diabetes mellitis type 2" EXACT [] synonym: "diabetes mellitis type II" EXACT [] synonym: "diabetes mellitus, non-insulin-dependent, susceptibility to" RELATED [OMIM:125853, OMIM:genemap2] synonym: "diabetes mellitus, noninsulin-dependent" EXACT [MONDO:Lexical, OMIM:125853] synonym: "diabetes mellitus, noninsulin-dependent, 2" NARROW [OMIM:125853, OMIM:genemap2] synonym: "diabetes mellitus, noninsulin-dependent, association with" EXACT [OMIM:125853, OMIM:genemap2] synonym: "diabetes mellitus, noninsulin-dependent, late onset" EXACT [OMIM:125853, OMIM:genemap2] synonym: "diabetes mellitus, noninsulin-dependent, susceptibility to" RELATED [OMIM:125853, OMIM:genemap2] synonym: "diabetes mellitus, type 2" EXACT [OMIM:125853] synonym: "diabetes mellitus, type 2, protection against" RELATED [OMIM:125853] synonym: "diabetes mellitus, type 2, susceptibility to" RELATED [OMIM:125853, OMIM:genemap2] synonym: "diabetes mellitus, type II" EXACT [OMIM:125853, OMIM:genemap2] synonym: "diabetes mellitus, type II, susceptibility to" RELATED [OMIM:125853, OMIM:genemap2] synonym: "diabetes, type 2" EXACT [NCIT:C26747] synonym: "hypertension, insulin resistance-related, susceptibility to" RELATED [OMIM:125853, OMIM:genemap2] synonym: "insulin resistance, severe, digenic" EXACT [OMIM:125853, OMIM:genemap2] synonym: "insulin resistance, susceptibility to" RELATED [OMIM:125853] synonym: "maturity-onset diabetes" RELATED [OMIM:125853] synonym: "NIDDM" EXACT DEPRECATED [DOID:9352, MONDO:Lexical, NCIT:C26747, OMIM:125853] synonym: "non-insulin dependent diabetes" EXACT DEPRECATED [NCIT:C26747] synonym: "non-insulin dependent diabetes mellitus" EXACT DEPRECATED [NCIT:C26747] synonym: "non-insulin-dependent diabetes mellitus" EXACT DEPRECATED [DOID:9352] synonym: "noninsulin dependent diabetes" EXACT DEPRECATED [NCIT:C26747] synonym: "noninsulin-dependent diabetes mellitus" EXACT [OMIM:125853] synonym: "T2DM - type 2 diabetes mellitus" EXACT [NCIT:C26747] synonym: "type 2 diabetes" EXACT [NCIT:C26747] synonym: "type 2 diabetes mellitus" EXACT [NCIT:C26747] synonym: "type 2 diabetes mellitus non-insulin dependent" EXACT [NCIT:C26747] synonym: "type 2 diabetes mellitus, susceptibility to" RELATED [OMIM:125853, OMIM:genemap2] synonym: "type II diabetes" EXACT [NCIT:C26747] synonym: "type II diabetes mellitus" EXACT [DOID:9352, NCIT:C26747] xref: DOID:9352 {source="MONDO:equivalentTo", source="EFO:0001360"} xref: EFO:0001360 {source="MONDO:equivalentTo", source="DOID:9352"} xref: MESH:D003924 {source="MONDO:equivalentTo", source="DOID:9352", source="EFO:0001360"} xref: NCIT:C26747 {source="MONDO:equivalentTo", source="DOID:9352", source="EFO:0001360"} xref: OMIM:125853 {source="MONDO:equivalentTo", source="DOID:9352", source="EFO:0001360"} xref: SCTID:44054006 {source="MONDO:equivalentTo", source="DOID:9352", source="EFO:0001360"} xref: UMLS:CN244395 {source="MONDO:equivalentTo"} is_a: EFO:0000400 {source="DOID:9352", source="EFO:0001360", source="MESH:D003924", source="NCIT:C26747"} ! diabetes mellitus property_value: exactMatch DOID:9352 property_value: exactMatch DOID:9352 property_value: exactMatch http://identifiers.org/mesh/D003924 property_value: exactMatch http://identifiers.org/mesh/D003924 property_value: exactMatch http://identifiers.org/snomedct/44054006 property_value: exactMatch http://identifiers.org/snomedct/44054006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244395 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244395 property_value: exactMatch https://omim.org/entry/125853 property_value: exactMatch https://omim.org/entry/125853 property_value: exactMatch NCIT:C26747 property_value: exactMatch NCIT:C26747 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0005149 name: pulmonary hypertension def: "Increased pressure within the pulmonary circulation due to lung or heart disorder." [NCIT:P378] xref: DOID:6432 {source="EFO:0001361", source="MONDO:equivalentTo"} xref: EFO:0001361 {source="MONDO:equivalentTo"} xref: MedDRA:10037400 xref: MESH:D006976 {source="DOID:6432", source="EFO:0001361", source="MONDO:equivalentTo"} xref: SCTID:70995007 {source="DOID:6432", source="EFO:0001361", source="MONDO:equivalentTo"} is_a: EFO:0000537 {source="DOID:6432", source="EFO:0001361"} ! hypertension property_value: exactMatch DOID:6432 property_value: exactMatch http://identifiers.org/mesh/D006976 property_value: exactMatch http://identifiers.org/snomedct/70995007 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4614 xsd:anyURI [Term] id: MONDO:0005178 name: osteoarthritis def: "A noninflammatory degenerative joint disease occurring chiefly in older persons, characterized by degeneration of the articular cartilage, hypertrophy of bone at the margins and changes in the synovial membrane. It is accompanied by pain and stiffness, particularly after prolonged activity." [NCIT:C3293] synonym: "degenerative arthritis" EXACT [DOID:8398] synonym: "degenerative joint disease" EXACT [DOID:8398] synonym: "hypertrophic arthritis" EXACT [DOID:8398] synonym: "osteoarthrosis" EXACT [DOID:8398] synonym: "osteoarthrosis and allied disorder" EXACT [DOID:8398] xref: DOID:8398 {source="MONDO:equivalentTo", source="EFO:0002506"} xref: EFO:0002506 {source="MONDO:equivalentTo", source="DOID:8398"} xref: HP:0002758 {source="MONDO:otherHierarchy", source="EFO:0002506"} xref: ICD10CM:M15-M19 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:M19 {source="MONDO:equivalentTo"} xref: ICD9:715.3 {source="DOID:8398"} xref: MESH:D010003 {source="MONDO:equivalentTo", source="EFO:0002506"} xref: NCIT:C3293 {source="MONDO:equivalentTo", source="EFO:0002506"} xref: SCTID:396275006 {source="MONDO:equivalentTo", source="EFO:0002506"} xref: UMLS:C0029408 {source="NCIT:C3293", source="MONDO:equivalentTo"} is_a: EFO:0005856 {source="DOID:8398", source="EFO:0002506", source="MESH:D010003", source="MONDO:Redundant", source="NCIT:C3293"} ! arthritis property_value: exactMatch DOID:8398 property_value: exactMatch DOID:8398 property_value: exactMatch http://identifiers.org/mesh/D010003 property_value: exactMatch http://identifiers.org/mesh/D010003 property_value: exactMatch http://identifiers.org/snomedct/396275006 property_value: exactMatch http://identifiers.org/snomedct/396275006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029408 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029408 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/M15-M19 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/M15-M19 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/M19 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/M19 property_value: exactMatch NCIT:C3293 property_value: exactMatch NCIT:C3293 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1395 xsd:anyURI [Term] id: MONDO:0005180 name: Parkinson disease def: "A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression." [NCIT:P378] synonym: "paralysis agitans" EXACT [DOID:14330] synonym: "Parkinson disease" EXACT [] synonym: "Parkinson's disease" EXACT [DOID:14330, ISBN-13:978-1-259-64403-0] xref: DOID:14330 {source="MONDO:equivalentTo", source="EFO:0002508"} xref: EFO:0002508 {source="MONDO:equivalentTo", source="DOID:14330"} xref: ICD9:332 {source="DOID:14330", source="EFO:0002508"} xref: ICD9:332.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14330"} xref: MESH:D010300 {source="MONDO:equivalentTo", source="DOID:14330", source="EFO:0002508"} xref: NCIT:C26845 {source="MONDO:equivalentTo", source="DOID:14330", source="EFO:0002508"} xref: NIFSTD:birnlex_2098 {source="EFO:0002508"} xref: OMIMPS:168600 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:319705 {source="MONDO:equivalentObsolete"} xref: SCTID:49049000 {source="MONDO:equivalentTo", source="DOID:14330", source="EFO:0002508"} xref: UMLS:C0030567 {source="MONDO:equivalentTo", source="DOID:14330", source="NCIT:C26845"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0021095 {source="MESH:D010300"} ! parkinsonian disorder property_value: exactMatch DOID:14330 property_value: exactMatch DOID:14330 property_value: exactMatch http://identifiers.org/mesh/D010300 property_value: exactMatch http://identifiers.org/mesh/D010300 property_value: exactMatch http://identifiers.org/snomedct/49049000 property_value: exactMatch http://identifiers.org/snomedct/49049000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030567 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030567 property_value: exactMatch https://omim.org/phenotypicSeries/PS168600 property_value: exactMatch https://omim.org/phenotypicSeries/PS168600 property_value: exactMatch NCIT:C26845 property_value: exactMatch NCIT:C26845 property_value: excluded_subClassOf MONDO:0000510 {source="DOID:14330"} property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0005232 name: large cell carcinoma def: "A malignant epithelial neoplasm composed of large, atypical cells." [NCIT:C3780] synonym: "carcinoma, large cell" EXACT [NCIT:C3780] synonym: "large cell carcinoma" EXACT [NCIT:C3780] xref: DOID:4552 {source="MONDO:equivalentTo", source="EFO:0003050"} xref: ICDO:8012/3 {source="NCIT:C3780"} xref: MESH:D018287 {source="DOID:4552", source="MONDO:equivalentTo", source="EFO:0003050"} xref: NCIT:C3780 {source="MONDO:CJM", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C0206704 {source="DOID:4552", source="NCIT:C3780", source="MONDO:equivalentTo"} is_a: EFO:0000313 {source="DOID:4552", source="MESH:D018287", source="MONDO:cjm", source="NCIT:C3780"} ! carcinoma property_value: exactMatch DOID:4552 property_value: exactMatch http://identifiers.org/mesh/D018287 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206704 property_value: exactMatch NCIT:C3780 [Term] id: MONDO:0005247 name: bacterial urinary tract infection def: "A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine." [NCIT:P378] synonym: "bacterial urinary tract infection (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "infection, urinary tract" BROAD [NCIT:C50791] synonym: "tract, infection of urinary" BROAD [NCIT:C50791] synonym: "urinary tract infection" BROAD [MONDO:ambiguous] synonym: "urinary tract infection (disease)" BROAD [] synonym: "urinary tract infectious disease" BROAD [NCIT:C50791] synonym: "UTI" BROAD ABBREVIATION [NCIT:C50791] xref: EFO:0003103 {source="MONDO:equivalentTo"} xref: ICD9:599.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C50791 {source="EFO:0003103", source="MONDO:equivalentTo"} xref: SCTID:68566005 {source="MONDO:equivalentTo"} is_a: EFO:0000771 {source="EFO:0003103", source="MONDO:Entailed", source="MONDO:Redundant"} ! bacterial disease is_a: EFO:0003103 ! urinary tract infection disjoint_from: EFO:0000763 ! viral disease disjoint_from: EFO:0001067 ! parasitic infection property_value: exactMatch http://identifiers.org/snomedct/68566005 property_value: exactMatch NCIT:C50791 property_value: IAO:0000589 "bacterial urinary tract infection (disease)" xsd:string [Term] id: MONDO:0005271 name: allergic disease def: "An immune response that occurs following re-exposure to an innocuous antigen, and that requires the presence of existing antibodies against that antigen. This response involves the binding of IgE to mast cells, and may worsen with repeated exposures." [NCIT:C114476] synonym: "allergic disease or disorder" EXACT [] synonym: "allergic form of disease or disorder" EXACT [MONDO:patterns/allergic_form_of_disease] synonym: "allergic form of immune system disease" EXACT [MONDO:patterns/allergic_form_of_disease] synonym: "allergic hypersensitivity disease" RELATED [DOID:1205] synonym: "allergic reaction" EXACT [NCIT:C114476] synonym: "allergic response" EXACT [NCIT:C114476] synonym: "allergy" EXACT [DOID:1205, NCIT:C114476] synonym: "disorder of type I hypersensitivity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "hypersensitivity" RELATED [DOID:1205] synonym: "hypersensitivity reaction type I disease" EXACT [DOID:1205] synonym: "type I hypersensitivity disease" EXACT [MONDO:design_pattern] xref: DOID:1205 {source="EFO:0003785", source="MONDO:equivalentTo"} xref: EFO:0003785 {source="MONDO:equivalentTo"} xref: ICD9:995.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:V15.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D006967 {source="EFO:0003785", source="MONDO:equivalentTo", source="DOID:1205"} xref: NCIT:C114476 {source="EFO:0003785", source="MONDO:equivalentTo"} xref: SCTID:609328004 {source="MONDO:equivalentTo"} xref: UMLS:C1527304 {source="MONDO:equivalentTo", source="NCIT:C114476"} is_a: EFO:1002003 {source="DOID:1205", source="MONDO:Entailed", source="NCIT:C114476"} ! hypersensitivity reaction disease disjoint_from: EFO:0005809 ! type II hypersensitivity reaction disease property_value: exactMatch DOID:1205 property_value: exactMatch DOID:1205 property_value: exactMatch http://identifiers.org/mesh/D006967 property_value: exactMatch http://identifiers.org/mesh/D006967 property_value: exactMatch http://identifiers.org/snomedct/609328004 property_value: exactMatch http://identifiers.org/snomedct/609328004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1527304 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1527304 property_value: exactMatch NCIT:C114476 property_value: exactMatch NCIT:C114476 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0005277 name: migraine disorder def: "A common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and light sensitivity." [NCIT:C89715] synonym: "migraine" EXACT [NCIT:C89715] synonym: "migraine disorder" EXACT [DOID:6364] synonym: "migraine headache" EXACT [NCIT:C89715] synonym: "migraine variant" EXACT [DOID:6364] synonym: "migraine with or without aura" EXACT [DOID:6364] xref: DOID:6364 {source="EFO:0003821", source="MONDO:equivalentTo"} xref: EFO:0003821 {source="MONDO:equivalentTo", source="DOID:6364"} xref: ICD9:346 {source="EFO:0003821", source="DOID:6364"} xref: ICD9:346.9 {source="DOID:6364"} xref: MESH:D008881 {source="EFO:0003821", source="MONDO:equivalentTo", source="DOID:6364"} xref: NCIT:C89715 {source="EFO:0003821", source="MONDO:equivalentTo", source="DOID:6364"} is_a: EFO:0005774 ! brain disease is_a: MONDO:0017181 {source="MESH:D008881"} ! hypnic headache is_a: MONDO:0043218 {source="NCIT:C89715"} ! neurovascular disorder property_value: exactMatch DOID:6364 property_value: exactMatch DOID:6364 property_value: exactMatch http://identifiers.org/mesh/D008881 property_value: exactMatch http://identifiers.org/mesh/D008881 property_value: exactMatch NCIT:C89715 property_value: exactMatch NCIT:C89715 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0005299 name: brain ischemia def: "Diminished or absent blood supply to the brain caused by obstruction (thrombosis or embolism) of an artery resulting in neurologic damage." [NCIT:C78394] synonym: "brain ischaemic disease" EXACT OMO:0003005 [] synonym: "brain ischemia" EXACT [MONDO:patterns/location] synonym: "brain ischemic disease" EXACT [MONDO:patterns/location] synonym: "cerebrovascular ischemia" EXACT [NCIT:C78394] synonym: "ischaemic disease of brain" EXACT OMO:0003005 [] synonym: "ischaemic encephalopathy" EXACT OMO:0003005 [] synonym: "ischemia cerebrovascular" EXACT [NCIT:C78394] synonym: "ischemic disease of brain" EXACT [MONDO:design_pattern] synonym: "ischemic encephalopathy" EXACT [DOID:2316] xref: DOID:2316 {source="EFO:0003883", source="MONDO:equivalentTo"} xref: EFO:0003883 {source="MONDO:equivalentTo"} xref: ICD9:348.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D002545 {source="EFO:0003883", source="MONDO:equivalentTo", source="DOID:2316"} xref: NCIT:C78394 {source="MONDO:equivalentTo"} xref: SCTID:389100007 {source="EFO:0003883", source="MONDO:equivalentTo", source="DOID:2316"} xref: UMLS:C0007786 {source="MONDO:equivalentTo", source="DOID:2316"} is_a: EFO:0003763 {source="MESH:D002545", source="NCIT:C78394"} ! cerebrovascular disorder is_a: MONDO:0005053 {source="DOID:2316", source="EFO:0003883", source="MONDO:Entailed", source="MONDO:Redundant"} ! ischemic disease property_value: exactMatch DOID:2316 property_value: exactMatch http://identifiers.org/mesh/D002545 property_value: exactMatch http://identifiers.org/snomedct/389100007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007786 property_value: exactMatch NCIT:C78394 [Term] id: MONDO:0005301 name: multiple sclerosis def: "A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers." [NCIT:P378] synonym: "generalised multiple sclerosis" NARROW OMO:0003005 [] synonym: "generalized multiple sclerosis" NARROW [DOID:2377] synonym: "insular sclerosis" RELATED [DOID:2377] xref: DOID:2377 {source="EFO:0003885", source="MONDO:equivalentTo"} xref: EFO:0003885 {source="DOID:2377", source="MONDO:equivalentTo"} xref: ICD10CM:G35 {source="DOID:2377", source="MONDO:equivalentTo"} xref: ICD9:340 {source="EFO:0003885", source="DOID:2377"} xref: MESH:D009103 {source="EFO:0003885", source="DOID:2377", source="MONDO:equivalentTo"} xref: NCIT:C3243 {source="EFO:0003885", source="DOID:2377", source="MONDO:equivalentTo"} xref: Orphanet:802 {source="MONDO:equivalentObsolete"} xref: SCTID:24700007 {source="EFO:0003885", source="DOID:2377", source="MONDO:equivalentTo"} xref: UMLS:C0026769 {source="DOID:2377", source="MONDO:equivalentTo", source="NCIT:C3243"} is_a: EFO:0005774 {source="MESH:D009103/inferred", source="MONDO:Redundant"} ! brain disease is_a: EFO:0020092 ! neuroinflammatory disorder is_a: EFO:1000870 {source="MESH:D009103"} ! CNS demyelinating autoimmune disease is_a: MONDO:0002562 {source="DOID:2377", source="ICD10CM:G35", source="MESH:D009103/inferred"} ! demyelinating disease property_value: exactMatch DOID:2377 property_value: exactMatch DOID:2377 property_value: exactMatch http://identifiers.org/mesh/D009103 property_value: exactMatch http://identifiers.org/mesh/D009103 property_value: exactMatch http://identifiers.org/snomedct/24700007 property_value: exactMatch http://identifiers.org/snomedct/24700007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026769 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026769 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G35 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G35 property_value: exactMatch NCIT:C3243 property_value: exactMatch NCIT:C3243 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0005321 name: Fuchs' endothelial dystrophy def: "Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity." [Orphanet:98974] subset: ordo_disease {source="Orphanet:98974"} synonym: "corneal dystrophy, Fuchs endothelial" EXACT [MONDO:0000164] synonym: "Endoepithelial corneal dystrophy" EXACT [Orphanet:98974] synonym: "FCED" EXACT ABBREVIATION [DOID:11555] synonym: "FECD" EXACT ABBREVIATION [Orphanet:98974] synonym: "Fuchs endothelial corneal dystrophy" RELATED [Orphanet:98974] synonym: "Fuchs endothelial dystrophy" EXACT [NCIT:C84721] synonym: "Fuchs' corneal dystrophy" EXACT [DOID:11555] synonym: "Fuchs' endothelial corneal dystrophy" EXACT [DOID:11555] synonym: "late hereditary endothelial dystrophy" EXACT [Orphanet:98974] xref: DOID:11555 {source="MONDO:equivalentTo", source="EFO:0003946"} xref: EFO:0003946 {source="DOID:11555", source="MONDO:equivalentTo"} xref: MESH:D005642 {source="DOID:11555", source="MONDO:equivalentTo", source="EFO:0003946"} xref: NCIT:C84721 {source="DOID:11555", source="MONDO:equivalentTo", source="EFO:0003946"} xref: OMIMPS:136800 {source="MONDO:equivalentTo"} xref: Orphanet:98974 {source="DOID:11555", source="MONDO:equivalentTo"} xref: SCTID:193839007 {source="DOID:11555", source="MONDO:equivalentTo", source="EFO:0003946"} xref: UMLS:C0016781 {source="DOID:11555", source="NCIT:C84721", source="Orphanet:98974", source="MONDO:equivalentTo"} xref: UMLS:CN207231 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0000766 {source="DOID:11555"} ! corneal endothelial dystrophy is_a: MONDO:0020214 {source="Orphanet:98974"} ! posterior corneal dystrophy property_value: exactMatch DOID:11555 property_value: exactMatch http://identifiers.org/mesh/D005642 property_value: exactMatch http://identifiers.org/snomedct/193839007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016781 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207231 property_value: exactMatch https://omim.org/phenotypicSeries/PS136800 property_value: exactMatch NCIT:C84721 property_value: exactMatch Orphanet:98974 [Term] id: MONDO:0005341 name: skin basal cell carcinoma def: "The most frequently seen skin cancer. It arises from basal cells of the epidermis and pilosebaceous units. Clinically it is divided into the following types: nodular, ulcerative, superficial, multicentric, erythematous, and sclerosing or morphea-like. More than 95% of these carcinomas occur in patients over 40. They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck and the remaining 15% on the trunk and extremities. Basal cell carcinoma usually grows in a slow and indolent fashion. However, if untreated, the tumor may invade the subcutaneous fat, skeletal muscle and bone. Distant metastases are rare. Excision, curettage and irradiation cure most basal cell carcinomas." [NCIT:C2921] synonym: "basal cell cancer" BROAD [DOID:2513, NCIT:C2921] synonym: "basal cell carcinoma" BROAD [NCIT:C2921] synonym: "basal cell carcinoma of skin" EXACT [DOID:2513, MTH:100, NCIT:C2921] synonym: "basal cell carcinoma of the skin" EXACT [NCIT:C2921] synonym: "basal cell epithelioma" EXACT [NCIT:C2921] synonym: "basal cell skin carcinoma" EXACT [NCIT:C2921] synonym: "basal cell tumor" BROAD [DOID:2513, NCIT:C3784] synonym: "basal cell tumour" BROAD OMO:0003005 [] synonym: "basal cell tumour (morphologic abnormality)" BROAD OMO:0003005 [] synonym: "BCC" BROAD ABBREVIATION [NCIT:C2921] synonym: "epithelioma basal cell" RELATED [DOID:2513] synonym: "malignant basal cell tumour" BROAD OMO:0003005 [] synonym: "malignant basal cell tumour (morphologic abnormality)" BROAD OMO:0003005 [] synonym: "skin basal cell cancer" EXACT [NCIT:C2921] synonym: "skin basal cell carcinoma" EXACT [NCIT:C2921] xref: CSP:2000-2719 {source="DOID:2513"} xref: DOID:2513 {source="MONDO:equivalentTo", source="EFO:0004193"} xref: EFO:0004193 {source="MONDO:equivalentTo", source="DOID:2513"} xref: HP:0002671 {source="MONDO:otherHierarchy", source="DOID:2513"} xref: ICDO:8090/3 {source="NCIT:C2921"} xref: NCIT:C2921 {source="MONDO:equivalentTo", source="DOID:2513", source="EFO:0004193"} xref: ONCOTREE:BCC {source="MONDO:equivalentTo"} xref: SCTID:254701007 {source="MONDO:equivalentTo", source="DOID:2513"} xref: UMLS:C0007117 {source="MONDO:equivalentTo", source="DOID:2513", source="NCIT:C2921"} xref: UMLS:C0206710 {source="MONDO:equivalentTo", source="DOID:2513"} xref: UMLS:C0751676 {source="MONDO:equivalentTo"} is_a: EFO:0004193 {source="NCIT:C2921"} ! basal cell carcinoma is_a: MONDO:0002529 ! skin squamous cell carcinoma property_value: exactMatch DOID:2513 property_value: exactMatch http://identifiers.org/snomedct/254701007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007117 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206710 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751676 property_value: exactMatch NCIT:C2921 [Term] id: MONDO:0005351 name: anorexia nervosa def: "A disorder most often seen in adolescent females characterized by a refusal to maintain a minimally normal body weight, an intense fear of gaining weight, a disturbance in body image, and, in postmenarcheal females, the development of amenorrhea." [NCIT:P378] xref: DOID:8689 {source="EFO:0004215", source="MONDO:equivalentTo"} xref: EFO:0004215 {source="MONDO:equivalentTo"} xref: ICD10CM:F50.0 {source="DOID:8689", source="MONDO:equivalentTo"} xref: ICD9:307.1 {source="DOID:8689", source="EFO:0004215", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D000856 {source="DOID:8689", source="EFO:0004215", source="MONDO:equivalentTo"} xref: NCIT:C34387 {source="DOID:8689", source="EFO:0004215", source="MONDO:equivalentTo"} xref: Orphanet:36297 {source="MONDO:equivalentObsolete"} xref: SCTID:56882008 {source="DOID:8689", source="EFO:0004215", source="MONDO:equivalentTo"} is_a: EFO:0005203 {source="DOID:8689", source="EFO:0004215", source="NCIT:C34387"} ! eating disorder property_value: exactMatch DOID:8689 property_value: exactMatch DOID:8689 property_value: exactMatch http://identifiers.org/mesh/D000856 property_value: exactMatch http://identifiers.org/mesh/D000856 property_value: exactMatch http://identifiers.org/snomedct/56882008 property_value: exactMatch http://identifiers.org/snomedct/56882008 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/F50.0 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/F50.0 property_value: exactMatch NCIT:C34387 property_value: exactMatch NCIT:C34387 [Term] id: MONDO:0005363 name: inherited focal segmental glomerulosclerosis def: "An instance of focal segmental glomerulosclerosis that is caused by an inherited genomic modification in an individual." [MONDO:patterns/hereditary] xref: EFO:0004236 {source="MONDO:equivalentTo"} xref: OMIMPS:603278 {source="MONDO:equivalentTo", source="DOID:1312"} is_a: EFO:0004236 ! focal segmental glomerulosclerosis is_a: MONDO:0100191 ! inherited kidney disorder intersection_of: EFO:0004236 ! focal segmental glomerulosclerosis intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch https://omim.org/phenotypicSeries/PS603278 [Term] id: MONDO:0005374 name: bone marrow neoplasm def: "Neoplasms that affect the bone marrow. Such neoplasms may arise in the bone marrow (e.g. myeloid leukemias) or may involve the bone marrow as secondary, metastatic tumors (e.g. metastatic carcinomas to the bone marrow)." [NCIT:C35370] synonym: "bone marrow cancer" NARROW [DOID:4960] synonym: "bone marrow neoplasm" EXACT [DOID:4960, NCIT:C35370] synonym: "bone marrow neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "bone marrow tumor" EXACT [DOID:4960, MONDO:patterns/neoplasm, NCIT:C35370] synonym: "bone marrow tumour" EXACT OMO:0003005 [] synonym: "malignant bone marrow tumor" NARROW [DOID:4960] synonym: "malignant bone marrow tumour" NARROW OMO:0003005 [] synonym: "neoplasm of bone marrow" EXACT [MONDO:patterns/neoplasm, NCIT:C35370] synonym: "tumor of bone marrow" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of bone marrow" EXACT OMO:0003005 [] xref: DOID:4960 {source="MONDO:equivalentTo"} xref: ICD9:238.79 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D019046 {source="MONDO:equivalentTo"} xref: NCIT:C35370 {source="MONDO:equivalentTo"} xref: SCTID:414824005 {source="MONDO:equivalentTo"} xref: UMLS:C0282609 {source="NCIT:C35370", source="MONDO:equivalentTo"} is_a: MONDO:0002334 {source="DOID:4960/inferred", source="MESH:D019046", source="MONDO:Redundant", source="NCIT:C35370"} ! hematopoietic and lymphoid system neoplasm is_a: MONDO:0003225 {source="DOID:4960", source="MESH:D019046", source="MONDO:Redundant", source="NCIT:C35370"} ! bone marrow disorder property_value: exactMatch DOID:4960 property_value: exactMatch http://identifiers.org/mesh/D019046 property_value: exactMatch http://identifiers.org/snomedct/414824005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0282609 property_value: exactMatch NCIT:C35370 [Term] id: MONDO:0005405 name: childhood onset asthma def: "Asthma that starts in childhood." [EFO:0004591] synonym: "asthma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "childhood asthma" EXACT [MONDO:design_pattern] synonym: "paediatric asthma" EXACT OMO:0003005 [] synonym: "pediatric asthma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] xref: DOID:0080815 {source="MONDO:equivalentTo"} xref: EFO:0004591 {source="MONDO:equivalentTo"} xref: SCTID:233678006 {source="MONDO:equivalentTo"} xref: UMLS:C0264408 {source="MONDO:equivalentTo"} is_a: MONDO:0004979 {source="EFO:0004591", source="MONDO:Redundant"} ! asthma property_value: exactMatch DOID:0080815 property_value: exactMatch DOID:0080815 property_value: exactMatch http://identifiers.org/snomedct/233678006 property_value: exactMatch http://identifiers.org/snomedct/233678006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264408 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264408 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0005411 name: gallbladder cancer def: "A malignant neoplasm involving the gall bladder" [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of gall bladder" EXACT [MONDO:patterns/cancer] synonym: "gall bladder cancer" EXACT [MONDO:patterns/location] synonym: "gallbladder Ca" EXACT [DOID:3121] synonym: "gallbladder neoplasm" BROAD [DOID:3121, MTH:NOCODE] synonym: "localised malignant gallbladder neoplasm" NARROW OMO:0003005 [] synonym: "localized malignant gallbladder neoplasm" NARROW [DOID:3121, NCIT:C35676] synonym: "malignant gall bladder neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant gallbladder neoplasm" EXACT [NCIT:C7481] synonym: "malignant gallbladder tumor" EXACT [NCIT:C7481] synonym: "malignant gallbladder tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of gall bladder" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of gallbladder" EXACT [DOID:3121, NCIT:C7481] synonym: "malignant neoplasm of the gallbladder" EXACT [NCIT:C7481] synonym: "malignant tumor of gallbladder" EXACT [DOID:3121, NCIT:C7481] synonym: "malignant tumor of the gallbladder" EXACT [DOID:3121, NCIT:C7481] synonym: "malignant tumour of gallbladder" EXACT OMO:0003005 [] synonym: "malignant tumour of the gallbladder" EXACT OMO:0003005 [] synonym: "tumor of the gallbladder" BROAD [DOID:3121, NCIT:C3048] synonym: "tumour of the gallbladder" BROAD OMO:0003005 [] xref: DOID:3121 {source="MONDO:equivalentTo", source="EFO:0004606"} xref: EFO:0004606 {source="MONDO:equivalentTo"} xref: ICD9:156.0 {source="DOID:3121", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:156.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C7481 {source="DOID:3121", source="MONDO:equivalentTo"} xref: ONCOTREE:GBC {source="MONDO:equivalentTo"} xref: SCTID:363353009 {source="DOID:3121", source="MONDO:equivalentTo"} xref: UMLS:C0153452 {source="DOID:3121", source="MONDO:equivalentTo", source="NCIT:C7481"} is_a: EFO:0004606 {source="MONDO:Redundant", source="NCIT:C7481"} ! gallbladder neoplasm is_a: MONDO:0002516 ! digestive system cancer property_value: exactMatch DOID:3121 property_value: exactMatch http://identifiers.org/snomedct/363353009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153452 property_value: exactMatch NCIT:C7481 property_value: excluded_subClassOf MONDO:0003060 {source="DOID:3121"} [Term] id: MONDO:0005475 name: migraine with aura def: "A migraine disorder characterized by episodes that are preceded by focal neurological symptoms." [NCIT:P378] synonym: "classic migraine" EXACT [DOID:10024] xref: DOID:10024 {source="MONDO:equivalentTo", source="EFO:0005295"} xref: EFO:0005295 {source="MONDO:equivalentTo"} xref: HP:0002077 {source="MONDO:otherHierarchy", source="EFO:0005295"} xref: ICD9:346.0 {source="EFO:0005295", source="DOID:10024"} xref: ICD9:346.00 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D020325 {source="MONDO:equivalentTo", source="EFO:0005295", source="DOID:10024"} xref: NCIT:C117005 {source="MONDO:equivalentTo", source="EFO:0005295", source="DOID:10024"} xref: SCTID:4473006 {source="MONDO:equivalentTo", source="EFO:0005295", source="DOID:10024"} xref: UMLS:C0154723 {source="MONDO:equivalentTo", source="NCIT:C117005", source="DOID:10024"} is_a: MONDO:0005277 {source="DOID:10024", source="EFO:0005295", source="MESH:D020325", source="NCIT:C117005"} ! migraine disorder property_value: exactMatch DOID:10024 property_value: exactMatch DOID:10024 property_value: exactMatch http://identifiers.org/mesh/D020325 property_value: exactMatch http://identifiers.org/mesh/D020325 property_value: exactMatch http://identifiers.org/snomedct/4473006 property_value: exactMatch http://identifiers.org/snomedct/4473006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154723 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154723 property_value: exactMatch NCIT:C117005 property_value: exactMatch NCIT:C117005 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0005499 name: brain glioma def: "A malignant glioma that involves the brain." [MONDO:patterns/location] synonym: "brain malignant glioma" EXACT [MONDO:patterns/location] synonym: "malignant glioma of brain" EXACT [MONDO:design_pattern] xref: DOID:0060108 {source="EFO:0005543", source="MONDO:equivalentTo"} xref: EFO:0005543 {source="MONDO:equivalentTo"} xref: SCTID:254937005 {source="MONDO:equivalentTo"} xref: UMLS:C0349661 {source="MONDO:equivalentTo"} is_a: MONDO:0001657 {source="DOID:0060108", source="MONDO:Entailed", source="MONDO:Redundant"} ! brain cancer is_a: MONDO:0100342 {source="DOID:0060108", source="MONDO:Redundant"} ! malignant glioma property_value: exactMatch DOID:0060108 property_value: exactMatch http://identifiers.org/snomedct/254937005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349661 [Term] id: MONDO:0005508 name: hereditary multiple osteochondromas def: "A bone neoplasm characterized by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones." [Orphanet:321] subset: gard_rare subset: ordo_disease {source="Orphanet:321"} synonym: "Bessel-Hagen disease" EXACT [Orphanet:321] synonym: "exostoses, multiple" EXACT [] synonym: "EXT" RELATED ABBREVIATION [] synonym: "hereditary multiple exostoses" RELATED [GARD:0007035] synonym: "hereditary multiple exostoses 1" NARROW [DOID:206] synonym: "hereditary multiple exostoses 2" NARROW [DOID:206] synonym: "hereditary multiple exostoses 3" NARROW [DOID:206] synonym: "hereditary multiple exostosis" RELATED [GARD:0007035] synonym: "HMO" RELATED ABBREVIATION [GARD:0007035] synonym: "multiple cartilaginous exostoses" EXACT [Orphanet:321] synonym: "multiple congenital exostosis" EXACT [DOID:206] synonym: "multiple exostoses" RELATED [GARD:0007035] synonym: "multiple exostosis syndromes" EXACT [DOID:206] synonym: "multiple ostechondromas" EXACT [DOID:206] synonym: "osteochondromatosis syndrome" EXACT [DOID:206] synonym: "osteochondromatosis syndrome (disorder) [ambiguous]" EXACT [DOID:206] xref: DOID:206 {source="MONDO:equivalentTo", source="EFO:0005560"} xref: EFO:0005560 {source="MONDO:equivalentTo"} xref: MESH:D005097 {source="DOID:206", source="MONDO:equivalentTo"} xref: NCIT:C5183 {source="DOID:206", source="MONDO:equivalentTo", source="EFO:0005560"} xref: Orphanet:321 {source="DOID:206", source="MONDO:equivalentTo", source="GARD:0007035"} xref: SCTID:254044004 {source="DOID:206", source="MONDO:equivalentTo", source="EFO:0005560"} xref: SCTID:716742001 {source="MONDO:equivalentTo"} xref: UMLS:C0206641 {source="MONDO:directSiblingOf", source="Orphanet:321"} xref: UMLS:CN204014 {source="MONDO:equivalentTo"} is_a: EFO:0003820 {source="Orphanet:321"} ! bone neoplasm is_a: MONDO:0002181 {source="DOID:206", source="NCIT:C5183"} ! exostosis is_a: MONDO:0015356 {source="MESH:D005097", source="NCIT:C5183"} ! hereditary neoplastic syndrome is_a: MONDO:0017742 {source="Orphanet:321"} ! disorder of O-xylosylglycan synthesis is_a: MONDO:0018292 {source="Orphanet:321"} ! congenital disorder of glycosylation-related bone disorder is_a: MONDO:0023603 ! hereditary disorder of connective tissue property_value: exactMatch DOID:206 property_value: exactMatch http://identifiers.org/mesh/D005097 property_value: exactMatch http://identifiers.org/snomedct/254044004 property_value: exactMatch http://identifiers.org/snomedct/716742001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204014 property_value: exactMatch NCIT:C5183 property_value: exactMatch Orphanet:321 property_value: excluded_subClassOf MONDO:0019708 {source="Orphanet:321"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7035/hereditary-multiple-osteochondromas xsd:anyURI {source="GARD:0007035"} [Term] id: MONDO:0005514 name: nanophthalmia def: "Nanophthalmia is a severe form of microphthalmia characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma." [Orphanet:35612] subset: ordo_malformation_syndrome {source="Orphanet:35612"} xref: DOID:0080634 {source="MONDO:equivalentTo"} xref: OMIMPS:600165 {source="MONDO:equivalentTo", source="DOID:0080634"} xref: Orphanet:35612 {source="MONDO:equivalentTo", source="DOID:10629", source="DOID:0080634"} xref: SCTID:716775009 {source="MONDO:equivalentTo"} is_a: MONDO:0000062 ! isolated microphthalmia is_a: MONDO:0016764 {source="Orphanet:35612"} ! isolated anophthalmia-microphthalmia syndrome property_value: exactMatch DOID:0080634 property_value: exactMatch http://identifiers.org/snomedct/716775009 property_value: exactMatch https://omim.org/phenotypicSeries/PS600165 property_value: exactMatch Orphanet:35612 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4626 xsd:anyURI [Term] id: MONDO:0005575 name: colorectal cancer def: "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." [NCIT:C4978] comment: Editor note: some sources make distinct classes for colorectal vs large intestine. We follow NCIT and make these equivalent subset: clingen synonym: "cancer of colorectum" EXACT [MONDO:patterns/cancer] synonym: "cancer of large bowel" EXACT [NCIT:C2955] synonym: "cancer of large intestine" EXACT [NCIT:C2955] synonym: "cancer of the large bowel" EXACT [NCIT:C2955] synonym: "colon cancer" RELATED [OMIM:114500] synonym: "colon cancer, advanced, somatic" EXACT [OMIM:114500, OMIM:genemap2] synonym: "colon cancer, somatic" EXACT [OMIM:114500, OMIM:genemap2] synonym: "colon cancer, susceptibility to, autosomal dominant, somatic mutation" RELATED [OMIM:114500, OMIM:genemap2] synonym: "colorectal cancer" EXACT [MONDO:Lexical, OMIM:114500] synonym: "colorectal cancer with chromosomal instability, somatic" EXACT [OMIM:114500, OMIM:genemap2] synonym: "colorectal cancer, autosomal dominant, somatic mutation" EXACT [OMIM:114500, OMIM:genemap2] synonym: "colorectal cancer, somatic" EXACT [OMIM:114500, OMIM:genemap2] synonym: "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation" EXACT [OMIM:114500, OMIM:genemap2] synonym: "colorectum cancer" EXACT [MONDO:patterns/location] synonym: "CRC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:114500] synonym: "large intestine cancer" RELATED [DOID:5672] synonym: "malignant colorectal neoplasm" EXACT [NCIT:C4978] synonym: "malignant colorectal tumor" EXACT [NCIT:C4978] synonym: "malignant colorectal tumour" EXACT OMO:0003005 [] synonym: "malignant colorectum neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant large bowel neoplasm" EXACT [NCIT:C4978] synonym: "malignant large bowel tumor" EXACT [NCIT:C4978] synonym: "malignant large bowel tumour" EXACT OMO:0003005 [] synonym: "malignant large intestine neoplasm" EXACT [NCIT:C4978] synonym: "malignant large intestine tumor" EXACT [NCIT:C4978] synonym: "malignant large intestine tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of colorectum" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of large bowel" EXACT [NCIT:C4978] synonym: "malignant neoplasm of large intestine" EXACT [NCIT:C4978] synonym: "malignant neoplasm of the large bowel" EXACT [NCIT:C4978] synonym: "malignant neoplasm of the large intestine" EXACT [NCIT:C4978] synonym: "malignant tumor of large bowel" EXACT [NCIT:C4978] synonym: "malignant tumor of large intestine" EXACT [NCIT:C4978] synonym: "malignant tumor of the large bowel" EXACT [NCIT:C4978] synonym: "malignant tumor of the large intestine" EXACT [NCIT:C4978] synonym: "malignant tumour of large bowel" EXACT OMO:0003005 [] synonym: "malignant tumour of large intestine" EXACT OMO:0003005 [] synonym: "malignant tumour of the large bowel" EXACT OMO:0003005 [] synonym: "malignant tumour of the large intestine" EXACT OMO:0003005 [] xref: DOID:5672 {source="MONDO:equivalentTo"} xref: DOID:9256 {source="EFO:0005842", source="MONDO:equivalentTo"} xref: EFO:0005842 {source="MONDO:equivalentTo"} xref: NCIT:C4978 {source="EFO:0005842", source="MONDO:equivalentTo", source="DOID:5672"} xref: OMIM:114500 {source="MONDO:equivalentTo", source="DOID:9256"} xref: Orphanet:466667 {source="MONDO:equivalentObsolete"} xref: SCTID:363510005 {source="MONDO:equivalentTo", source="DOID:5672"} xref: UMLS:C1527249 {source="MONDO:equivalentObsolete", source="OMIM:114500", source="DOID:9256"} is_a: EFO:0004142 {source="MONDO:Redundant", source="NCIT:C4978"} ! colorectal neoplasm is_a: EFO:0007330 {source="DOID:5672", source="DOID:9256/inferred", source="MONDO:Redundant", source="NCIT:C4978"} ! intestinal cancer property_value: exactMatch DOID:5672 property_value: exactMatch DOID:5672 property_value: exactMatch DOID:9256 property_value: exactMatch DOID:9256 property_value: exactMatch http://identifiers.org/snomedct/363510005 property_value: exactMatch http://identifiers.org/snomedct/363510005 property_value: exactMatch https://omim.org/entry/114500 property_value: exactMatch https://omim.org/entry/114500 property_value: exactMatch NCIT:C4978 property_value: exactMatch NCIT:C4978 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0005741 name: obsolete egg allergy def: "OBSOLETE. Allergic reaction to eggs that is triggered by the immune system." [MESH:D021181] synonym: "allergy of egg" EXACT [MONDO:patterns/allergy] synonym: "allergy to eggs" EXACT [DOID:4377] synonym: "egg allergic disease" EXACT [] xref: DOID:4377 {source="EFO:0007248", source="MONDO:obsoleteEquivalent"} xref: EFO:0007248 {source="MONDO:obsoleteEquivalent"} xref: ICD9:V15.03 {source="MONDO:obsoleteEquivalent", source="MONDO:i2s"} xref: MESH:D021181 {source="DOID:4377", source="EFO:0007248", source="MONDO:obsoleteEquivalent"} xref: SCTID:91930004 {source="DOID:4377", source="MONDO:obsoleteEquivalent"} xref: UMLS:C0559469 {source="DOID:4377", source="MONDO:obsoleteEquivalent"} property_value: exactMatch DOID:4377 property_value: exactMatch http://identifiers.org/mesh/D021181 property_value: exactMatch http://identifiers.org/snomedct/91930004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0559469 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/498 xsd:anyURI is_obsolete: true [Term] id: MONDO:0005784 name: hantavirus hemorrhagic fever with renal syndrome def: "A disorder caused by hantaviruses of the family Bunyaviridae. It is transmitted by rodents and is manifested with fever, hemorrhage, and renal failure. Other symptoms include headaches, abdominal and back pain, and blurred vision." [NCIT:P378] synonym: "hemorrhagic fever with renal syndrome" RELATED [DOID:11266] synonym: "hemorrhagic fever, Russian" NARROW [DOID:11266] synonym: "hemorrhagic nephrosonephritis" EXACT [DOID:11266, ICD9CM:078.6] synonym: "HFRS" EXACT ABBREVIATION [DOID:11266, Wikipedia:Hantavirus_hemorrhagic_fever_with_renal_syndrome] synonym: "Puumala virus nephropathy" NARROW [DOID:11266] xref: DOID:11266 {source="MONDO:equivalentTo", source="EFO:0007299"} xref: EFO:0007299 {source="MONDO:equivalentTo"} xref: ICD10CM:A98.5 {source="MONDO:equivalentTo", source="DOID:11266"} xref: ICD9:078.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11266"} xref: NCIT:C84753 {source="MONDO:equivalentTo", source="DOID:11266"} xref: SCTID:102455002 {source="MONDO:equivalentTo", source="DOID:11266"} is_a: EFO:0003086 ! kidney disease is_a: EFO:0003103 ! urinary tract infection is_a: EFO:0007295 ! Hantavirus infectious disease property_value: exactMatch DOID:11266 property_value: exactMatch http://identifiers.org/snomedct/102455002 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A98.5 property_value: exactMatch NCIT:C84753 [Term] id: MONDO:0005835 name: Lynch syndrome def: "An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present." [NCIT:P378] comment: Sometimes Lynch syndrome is also referred to as hereditary non-polyposis colorectal cancer (HNPCC), but the two conditions are subtly different. Lynch syndrome is classified by a mutation in mismatch repair genes. It is diagnosed by specific criteria known as the Amsterdam criteria. subset: clingen subset: ordo_disease {source="Orphanet:144"} synonym: "familial non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)" EXACT [NCIT:C8494] synonym: "Hereditary colorectal endometrial cancer syndrome" EXACT [NCIT:C8494] synonym: "hereditary defective mismatch repair syndrome" EXACT [DOID:3883, NCIT:C8494] synonym: "Hereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)" EXACT [NCIT:C8494] synonym: "hereditary non-polyposis colon cancer type 1" EXACT [DOID:3883] synonym: "Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)" EXACT [NCIT:C8494] synonym: "hereditary nonpolyposis colorectal cancer" BROAD [DOID:3883] synonym: "hereditary nonpolyposis colorectal neoplasm" BROAD [DOID:3883] synonym: "HNPCC - hereditary nonpolyposis colon cancer" BROAD [DOID:3883] synonym: "Lynch syndrome" EXACT [] xref: DOID:3883 {source="MONDO:equivalentTo", source="EFO:0007354"} xref: EFO:0007354 {source="MONDO:equivalentTo"} xref: MedDRA:10051981 {source="Orphanet:144/e", source="Orphanet:144"} xref: NCIT:C8494 {source="DOID:3883", source="MONDO:equivalentTo"} xref: Orphanet:144 {source="DOID:3883", source="MONDO:equivalentTo"} xref: SCTID:716318002 {source="MONDO:equivalentTo"} xref: UMLS:C0009405 {source="DOID:3883", source="MONDO:relatedTo"} is_a: MONDO:0000426 {source="DOID:3883", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0018630 {source="NCIT:C8494", source="Orphanet:144"} ! hereditary nonpolyposis colon cancer property_value: closeMatch http://identifiers.org/meddra/10051981 property_value: exactMatch DOID:3883 property_value: exactMatch http://identifiers.org/snomedct/716318002 property_value: exactMatch NCIT:C8494 property_value: exactMatch Orphanet:144 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1673 xsd:anyURI property_value: relatedMatch http://linkedlifedata.com/resource/umls/id/C0009405 property_value: seeAlso https://my.clevelandclinic.org/health/diseases/17195-lynch-syndrome--hnpcc xsd:string property_value: seeAlso https://www.sciencedirect.com/topics/medicine-and-dentistry/amsterdam-criteria xsd:string [Term] id: MONDO:0006037 name: hydrolethalus syndrome def: "Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities." [Orphanet:2189] subset: gard_rare {source="GARD:0006683"} subset: ordo_malformation_syndrome {source="Orphanet:2189"} synonym: "HLS" RELATED ABBREVIATION [GARD:0006683] synonym: "hydrolethalus" RELATED [Orphanet:2189] synonym: "Salonen-Herva-Norio syndrome" EXACT [DOID:0050779] xref: DOID:0050779 {source="EFO:1000033", source="MONDO:equivalentTo"} xref: EFO:1000033 {source="MONDO:equivalentTo"} xref: MESH:C536079 {source="Orphanet:2189", source="MONDO:equivalentTo", source="Orphanet:2189/e"} xref: OMIMPS:236680 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:2189 {source="MONDO:equivalentTo", source="DOID:0050779"} xref: SCTID:721232000 {source="MONDO:equivalentTo"} xref: UMLS:C2931104 {source="Orphanet:2189", source="MONDO:equivalentTo", source="Orphanet:2189/e"} is_a: EFO:1000017 {source="DOID:0050779", source="EFO:1000033", source="MONDO:Redundant"} ! autosomal recessive disease property_value: exactMatch DOID:0050779 property_value: exactMatch http://identifiers.org/mesh/C536079 property_value: exactMatch http://identifiers.org/snomedct/721232000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931104 property_value: exactMatch https://omim.org/phenotypicSeries/PS236680 property_value: exactMatch Orphanet:2189 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6683/hydrolethalus-syndrome xsd:anyURI {source="GARD:0006683"} [Term] id: MONDO:0006058 name: Wilms tumor def: "An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix." [NCIT:C3267] synonym: "Wilms tumor" EXACT [MONDO:0021044, NCIT:C3267] synonym: "Wilms tumor (nephroblastoma)" NARROW [NCIT:C3267] synonym: "Wilms tumour (nephroblastoma)" NARROW OMO:0003005 [] synonym: "Wilms' tumor" EXACT [NCIT:C3267] synonym: "Wilms' tumour" EXACT OMO:0003005 [] xref: EFO:1000056 {source="MONDO:equivalentObsolete"} xref: MESH:D009396 {source="https://orcid.org/0000-0003-1967-3726", source="EFO:1000056", source="MONDO:equivalentTo"} xref: NCIT:C3267 {source="EFO:1000056", source="MONDO:equivalentTo"} xref: UMLS:CN244940 {source="MONDO:equivalentTo"} is_a: EFO:0005784 {source="EFO:1000056", source="NCIT:C3267"} ! embryonal neoplasm is_a: EFO:1000356 {source="NCIT:C3267"} ! Malignant Mixed Neoplasm property_value: exactMatch http://identifiers.org/mesh/D009396 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244940 property_value: exactMatch NCIT:C3267 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5537 xsd:anyURI [Term] id: MONDO:0006089 name: obsolete appendix goblet cell carcinoid property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4635 xsd:anyURI is_obsolete: true replaced_by: MONDO:0018017 [Term] id: MONDO:0006412 name: sinus histiocytosis with massive lymphadenopathy def: "A rare disorder of unknown etiology characterized by distention of the lymph node sinuses and sinusoidal histiocytic infiltration. The histiocytes characteristically contain ingested lymphocytes. Patients present with cervical lymphadenopathy, fever, leukocytosis, and hypergammaglobulinemia. It can affect extranodal sites, including skin, bones, and the respiratory tract. It usually regresses spontaneously." [NCIT:P378] subset: ordo_disease synonym: "Destombes-RosaC/-Dorfman disease" EXACT [Orphanet:158014] synonym: "Destombes-Rosaï-Dorfman disease" EXACT [Orphanet:158014] synonym: "RDD" EXACT ABBREVIATION [GARD:0007588] synonym: "RosaC/-Dorfman-Destombes disease" EXACT [Orphanet:158014] synonym: "Rosai-Dorfman disease" EXACT [MONDO:0044354, NCIT:C36075, Orphanet:158014] synonym: "Rosaï-Dorfman-Destombes disease" EXACT [Orphanet:158014] synonym: "SHML" EXACT ABBREVIATION [Orphanet:158014] synonym: "sinus histiocytosis with massive lymphadenopathy" EXACT [Orphanet:158014] xref: EFO:1000528 {source="MONDO:equivalentTo"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10063397 {source="Orphanet:158014"} xref: MESH:D015618 {source="MONDO:equivalentTo"} xref: NCIT:C36075 {source="ONCOTREE:RDD", source="MONDO:equivalentTo", source="EFO:1000528"} xref: ONCOTREE:RDD {source="MONDO:equivalentTo"} xref: Orphanet:158014 {source="MONDO:equivalentTo"} xref: SCTID:34287003 {source="MONDO:equivalentTo"} is_a: MONDO:0015531 {source="Orphanet:158014"} ! non-Langerhans cell histiocytosis property_value: closeMatch http://identifiers.org/meddra/10063397 property_value: exactMatch http://identifiers.org/mesh/D015618 property_value: exactMatch http://identifiers.org/snomedct/34287003 property_value: exactMatch NCIT:C36075 property_value: exactMatch Orphanet:158014 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4236 xsd:anyURI [Term] id: MONDO:0006507 name: hereditary hemochromatosis def: "An inherited metabolic disorder characterized by iron accumulation in the tissues." [NCIT:P378] comment: Editor notes: HH1 is not rare, so the current placement of generic HH under rare inborn errors of metabolism is technically incorrect. However, reclassifying on the basis of prelvalence does not make biological sense since the mechanism is the same. See notes on MONDO:0019052 synonym: "diabetes bronze" EXACT [DOID:2352] synonym: "haemochromatosis" BROAD [DOID:2352] synonym: "hemochromatosis" BROAD [DOID:2352] synonym: "hemochromatosis, hereditary" EXACT [OMIM:235200] synonym: "iron storage disorder" EXACT [DOID:2352] xref: DOID:2352 {source="MONDO:equivalentTo", source="EFO:1000642"} xref: EFO:1000642 {source="MONDO:equivalentTo"} xref: ICD10CM:E83.110 {source="DOID:2352", source="MONDO:equivalentTo"} xref: MESH:D006432 {source="DOID:2352", source="MONDO:equivalentTo"} xref: NCIT:C84481 {source="DOID:2352", source="MONDO:equivalentTo"} xref: OMIMPS:235200 {source="DOID:2352", source="MONDO:equivalentTo"} xref: SCTID:35400008 {source="MONDO:equivalentTo"} xref: SCTID:399187006 {source="DOID:2352", source="MONDO:relatedTo"} is_a: MONDO:0001436 {source="NCIT:C84481"} ! hemosiderosis is_a: MONDO:0004689 {source="DOID:2352", source="MESH:D006432"} ! inborn metal metabolism disorder is_a: MONDO:0017763 {source="Orphanet:220489"} ! disorder of iron metabolism and transport property_value: exactMatch DOID:2352 property_value: exactMatch http://identifiers.org/mesh/D006432 property_value: exactMatch http://identifiers.org/snomedct/35400008 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E83.110 property_value: exactMatch https://omim.org/phenotypicSeries/PS235200 property_value: exactMatch NCIT:C84481 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3557 xsd:anyURI property_value: relatedMatch http://identifiers.org/snomedct/399187006 [Term] id: MONDO:0006588 name: obsolete nonepidermolytic palmoplantar keratoderma property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4095 xsd:anyURI is_obsolete: true replaced_by: MONDO:0010962 [Term] id: MONDO:0006596 name: photoallergic dermatitis def: "A delayed hypersensitivity involving the reaction between sunlight or other radiant energy source and a chemical substance to which the individual has been previously exposed and sensitized. It manifests as a papulovesicular, eczematous, or exudative dermatitis occurring chiefly on the light-exposed areas of the skin." [MESH:D017454] synonym: "photoallergic contact dermatitis" EXACT [DOID:3818] synonym: "photoallergic eczema" EXACT [DOID:3818] xref: DOID:3818 {source="EFO:1000751", source="MONDO:equivalentTo"} xref: EFO:1000751 {source="MONDO:equivalentTo"} xref: ICD9:692.72 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D017454 {source="MONDO:equivalentTo", source="DOID:3818"} xref: SCTID:111209006 {source="MONDO:equivalentTo", source="DOID:3818"} xref: UMLS:C0162824 {source="MONDO:equivalentTo", source="DOID:3818"} xref: Wikipedia:Photodermatitis {source="EFO:1000751"} is_a: EFO:1000668 {source="DOID:3818", source="EFO:1000751", source="MESH:D017454", source="MONDO:Redundant"} ! allergic contact dermatitis is_a: EFO:1000752 {source="DOID:3818", source="MESH:D017454", source="MONDO:Redundant"} ! photosensitivity disease intersection_of: EFO:1000668 ! allergic contact dermatitis intersection_of: EFO:1000752 ! photosensitivity disease property_value: exactMatch DOID:3818 property_value: exactMatch http://identifiers.org/mesh/D017454 property_value: exactMatch http://identifiers.org/snomedct/111209006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162824 [Term] id: MONDO:0006715 name: coronary stenosis def: "Narrowing of the coronary artery lumen diameter." [NCIT:P378] synonym: "coronary artery stenosis" EXACT [DOID:4248] xref: DOID:4248 {source="MONDO:equivalentTo", source="EFO:1000882"} xref: EFO:1000882 {source="MONDO:equivalentTo"} xref: MedDRA:10011089 {source="EFO:1000882"} xref: MESH:D023921 {source="DOID:4248", source="MONDO:equivalentTo", source="EFO:1000882"} xref: SCTID:233970002 {source="DOID:4248", source="MONDO:equivalentTo"} xref: UMLS:C0242231 {source="DOID:4248", source="MONDO:equivalentTo"} is_a: EFO:0001645 {source="DOID:4248", source="EFO:1000882", source="EFO:1000882/inferred"} ! coronary artery disease property_value: closeMatch http://identifiers.org/meddra/10011089 property_value: exactMatch DOID:4248 property_value: exactMatch http://identifiers.org/mesh/D023921 property_value: exactMatch http://identifiers.org/snomedct/233970002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242231 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0006751 name: Erysipelothrix infectious disease def: "Infections with bacteria of the genus erysipelothrix." [MESH:D004889] synonym: "Erysipelothrix caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Erysipelothrix disease or disorder" EXACT [] synonym: "Erysipelothrix infection" RELATED [MESH:D004889] synonym: "infection, Erysipelothrix" RELATED [MESH:D004889] synonym: "infections, Erysipelothrix" RELATED [MESH:D004889] xref: EFO:1000927 {source="MONDO:equivalentTo"} xref: MESH:D004889 {source="EFO:1000927", source="MONDO:equivalentTo"} xref: SCTID:367434002 {source="MONDO:equivalentTo"} xref: UMLS:C0014736 {source="MONDO:equivalentTo"} is_a: MONDO:0021679 {source="MESH:D004889"} ! gram-positive bacterial infections property_value: exactMatch http://identifiers.org/mesh/D004889 property_value: exactMatch http://identifiers.org/snomedct/367434002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014736 [Term] id: MONDO:0006772 name: obsolete glycogen storage disease VIII property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2648 xsd:anyURI is_obsolete: true replaced_by: MONDO:0010598 [Term] id: MONDO:0006832 name: obsolete limited scleroderma property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4633 xsd:anyURI is_obsolete: true replaced_by: MONDO:0016358 [Term] id: MONDO:0006906 name: obsolete pigmented villonodular synovitis property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4610 xsd:anyURI is_obsolete: true replaced_by: MONDO:0024686 [Term] id: MONDO:0007021 name: obsolete wheat allergic disease def: "OBSOLETE. Allergic reaction to wheat that is triggered by the immune system." [EFO:1001243] synonym: "allergic disease from wheat based food product" EXACT [] synonym: "allergy of wheat based food product" EXACT [MONDO:patterns/allergy] synonym: "allergy to wheat" EXACT [DOID:3660] synonym: "wheat allergic reaction" RELATED [DOID:3660] synonym: "wheat allergy" RELATED [DOID:3660] synonym: "wheat based food product allergic disease" EXACT [MONDO:patterns/environmental_stimulus] xref: DOID:3660 {source="MONDO:obsoleteEquivalent", source="EFO:1001243"} xref: EFO:1001243 {source="MONDO:obsoleteEquivalent"} xref: ICD9:995.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D021182 {source="DOID:3660", source="MONDO:obsoleteEquivalent", source="EFO:1001243"} xref: SCTID:420174000 {source="DOID:3660", source="MONDO:obsoleteEquivalent"} xref: UMLS:C0949570 {source="DOID:3660", source="MONDO:obsoleteEquivalent"} property_value: exactMatch DOID:3660 property_value: exactMatch http://identifiers.org/mesh/D021182 property_value: exactMatch http://identifiers.org/snomedct/420174000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0949570 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/498 xsd:anyURI is_obsolete: true [Term] id: MONDO:0007029 name: branchio-oto-renal syndrome def: "A syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts)." [Orphanet:107] comment: (From orphanet): Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). Prevalence is 1/40,000. Renal involvement can lead to chronic renal insufficiency. The expression of the disease varies widely from one family to another and among individuals of the same family. Some families do not present with renal abnormalities or a urinary tree malformation. BOR syndrome is transmitted in an autosomal dominant manner. The causative gene, EYA1, is located on the long arm of chromosome 8. Point mutations and deletions in EYA1 have been identified in approximately 40% of affected individuals. Mutations have also been identified in the SIX1 and SIX5 genes, the products of which interact with EYA1 to form transcription factor complexes. Prenatal testing can be proposed to families in which the disease-causing mutation has been identified, but genetic counseling is difficult because of the clinical heterogeneity between individuals. Management of affected patients includes excision of branchial fistulae or cysts, hearing aids and education programs appropriate for the hearing impaired, and follow-up by a nephrologist. Dialysis or renal transplantation may be required. {source="EFO:1001251"} subset: ordo_malformation_syndrome {source="Orphanet:107"} synonym: "bor syndrome" RELATED [Orphanet:107] synonym: "Branchio oto renal syndrome" RELATED [GARD:0010147] synonym: "Branchio-Oto-renal syndrome" EXACT [DOID:14702, MTH:NOCODE] synonym: "branchio-oto-renal syndrome" EXACT [] synonym: "Branchio-otorenal dysplasia" EXACT [DOID:14702] synonym: "branchiootorenal dysplasia" EXACT [DOID:14702] synonym: "branchiootorenal syndrome" EXACT [Orphanet:107] synonym: "Melnick-Fraser syndrome" EXACT [DOID:14702] xref: DOID:14702 {source="EFO:1001251", source="MONDO:equivalentTo"} xref: EFO:1001251 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10071135 {source="Orphanet:107", source="Orphanet:107/e"} xref: MESH:D019280 {source="DOID:14702", source="EFO:1001251", source="Orphanet:107", source="MONDO:equivalentTo", source="Orphanet:107/e"} xref: NCIT:C98983 {source="DOID:14702", source="EFO:1001251", source="MONDO:equivalentTo"} xref: Orphanet:107 {source="EFO:1001251", source="MONDO:equivalentTo"} xref: SCTID:290006 {source="DOID:14702", source="EFO:1001251", source="MONDO:equivalentTo"} xref: UMLS:C0265234 {source="DOID:14702", source="EFO:1001251", source="Orphanet:107", source="MONDO:equivalentTo", source="NCIT:C98983", source="Orphanet:107/e"} xref: UMLS:CN043574 {source="MONDO:equivalentTo"} xref: Wikipedia:Branchio-oto-renal_syndrome {source="EFO:1001251"} is_a: MONDO:0000426 {source="DOID:14702", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C98983"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:107"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015334 {source="Orphanet:107"} ! branchial arch or oral-acral syndrome property_value: closeMatch http://identifiers.org/meddra/10071135 property_value: exactMatch DOID:14702 property_value: exactMatch http://identifiers.org/mesh/D019280 property_value: exactMatch http://identifiers.org/snomedct/290006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265234 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN043574 property_value: exactMatch NCIT:C98983 property_value: exactMatch Orphanet:107 property_value: excluded_subClassOf MONDO:0015501 {source="Orphanet:107"} [Term] id: MONDO:0007031 name: familial abdominal aortic aneurysm def: "An instance of abdominal aortic aneurysm that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: ordo_disease {source="Orphanet:86"} subset: prototype_pattern synonym: "aortic aneurysm, familial abdominal" EXACT [OMIMPS:100070] synonym: "hereditary abdominal aortic aneurysm" EXACT [MONDO:patterns/hereditary] xref: OMIMPS:100070 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:86 {source="MONDO:equivalentTo", source="OMIM:100070"} xref: SCTID:715364001 {source="MONDO:equivalentTo"} xref: UMLS:C4275172 {source="MONDO:equivalentTo"} xref: UMLS:CN206207 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0004214 {source="DC-OMIM:100070", source="MONDO:Redundant"} ! Abdominal Aortic Aneurysm intersection_of: EFO:0004214 ! Abdominal Aortic Aneurysm intersection_of: has_characteristic MONDO:0021152 ! inherited relationship: has_characteristic MONDO:0021136 {source="MONDO:0016517"} ! rare property_value: exactMatch http://identifiers.org/snomedct/715364001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275172 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206207 property_value: exactMatch https://omim.org/phenotypicSeries/PS100070 property_value: exactMatch Orphanet:86 [Term] id: MONDO:0007032 name: prune belly syndrome def: "Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes." [Orphanet:2970] subset: ordo_malformation_syndrome {source="Orphanet:2970"} synonym: "abdominal muscle deficiency syndrome" EXACT [DOID:0060889, Orphanet:2970] synonym: "abdominal muscles, absence of, with urinary tract Abnormality and cryptorchidism" RELATED [OMIM:100100] synonym: "eagle-Barret syndrome" EXACT [DOID:0060889, Orphanet:2970] synonym: "eagle-Barrett syndrome" RELATED [OMIM:100100] synonym: "Obrinsky syndrome" EXACT [Orphanet:2970] synonym: "Obrisnksy syndrome" EXACT [DOID:0060889] synonym: "PBS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:100100] synonym: "prune belly syndrome" EXACT [MONDO:Lexical, OMIM:100100] synonym: "syndrome of agenesis of abdominal muscles" EXACT [NCIT:C85033] synonym: "triad syndrome" EXACT [Orphanet:2970] xref: DOID:0060889 {source="MONDO:equivalentTo"} xref: ICD9:756.71 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10051025 {source="Orphanet:2970", source="Orphanet:2970/e"} xref: MESH:C536477 {source="Orphanet:2970", source="Orphanet:2970/e", source="MONDO:directSiblingOf"} xref: MESH:D011535 {source="Orphanet:2970", source="MONDO:equivalentTo", source="Orphanet:2970/e", source="DOID:0060889"} xref: NCIT:C85033 {source="MONDO:equivalentTo"} xref: OMIM:100100 {source="Orphanet:2970", source="MONDO:equivalentTo", source="Orphanet:2970/e", source="DOID:0060889"} xref: Orphanet:2970 {source="MONDO:equivalentTo", source="OMIM:100100", source="DOID:0060889"} xref: SCTID:5187006 {source="MONDO:equivalentTo"} xref: UMLS:C0033770 {source="Orphanet:2970", source="MONDO:equivalentTo", source="OMIM:100100", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C85033", source="Orphanet:2970/e"} xref: UMLS:C0265363 {source="Orphanet:2970", source="Orphanet:2970/e", source="MONDO:directSiblingOf"} is_a: MONDO:0015620 {source="MONDO:Redundant", source="Orphanet:2970"} ! syndromic urogenital tract malformation is_a: MONDO:0018559 {source="Orphanet:2970"} ! fetal lower urinary tract obstruction property_value: closeMatch http://identifiers.org/meddra/10051025 property_value: exactMatch DOID:0060889 property_value: exactMatch http://identifiers.org/mesh/D011535 property_value: exactMatch http://identifiers.org/snomedct/5187006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033770 property_value: exactMatch https://omim.org/entry/100100 property_value: exactMatch NCIT:C85033 property_value: exactMatch Orphanet:2970 [Term] id: MONDO:0007034 name: Adams-Oliver syndrome def: "Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects." [Orphanet:974] subset: gard_rare {source="GARD:0005739"} subset: ordo_malformation_syndrome {source="Orphanet:974"} synonym: "Adams Oliver syndrome" EXACT [DOID:0060227] synonym: "AOS" EXACT ABBREVIATION [Orphanet:974] synonym: "congenital scalp defects with distal limb anomalies" EXACT [Orphanet:974] synonym: "congenital scalp defects with distal limb reduction anomalies" EXACT [Orphanet:974] synonym: "limb scalp and skull defects" RELATED [GARD:0005739] synonym: "limb, scalp and skull defects" EXACT [Orphanet:974] xref: DOID:0060227 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538225 {source="Orphanet:974", source="MONDO:equivalentTo", source="DOID:0060227", source="Orphanet:974/e"} xref: OMIMPS:100300 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:974 {source="MONDO:equivalentTo", source="OMIM:100300"} xref: SCTID:34748004 {source="MONDO:equivalentTo", source="DOID:0060227"} xref: UMLS:C0265268 {source="Orphanet:974", source="MONDO:equivalentTo", source="OMIM:100300", source="DOID:0060227", source="Orphanet:974/e"} is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation property_value: exactMatch DOID:0060227 property_value: exactMatch http://identifiers.org/mesh/C538225 property_value: exactMatch http://identifiers.org/snomedct/34748004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265268 property_value: exactMatch https://omim.org/phenotypicSeries/PS100300 property_value: exactMatch Orphanet:974 property_value: excluded_subClassOf MONDO:0019294 {source="Orphanet:974"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5682 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5739/adams-oliver-syndrome xsd:anyURI {source="GARD:0005739"} [Term] id: MONDO:0007037 name: Achondroplasia def: "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." [Orphanet:15] subset: clingen subset: gard_rare {source="GARD:0008173"} subset: ordo_disease {source="Orphanet:15"} synonym: "ACH" EXACT ABBREVIATION [MONDO:Lexical, OMIM:100800] synonym: "Achondroplasia" EXACT [MONDO:Lexical, OMIM:100800] synonym: "Achondroplastic dwarfism" RELATED [GARD:0008173] synonym: "Achondroplastic physique" EXACT [DOID:4480] synonym: "chondrodystrophia" EXACT [DOID:4480] xref: DOID:4480 {source="MONDO:equivalentTo"} xref: ICD10CM:Q77.4 {source="MONDO:equivalentTo", source="Orphanet:15", source="Orphanet:15/specific", source="DOID:4480", source="Orphanet:15/e"} xref: MedDRA:10000452 {source="Orphanet:15", source="Orphanet:15/e"} xref: MESH:D000130 {source="MONDO:equivalentTo", source="Orphanet:15", source="DOID:4480", source="Orphanet:15/e"} xref: NCIT:C34345 {source="MONDO:equivalentTo", source="DOID:4480"} xref: OMIM:100800 {source="MONDO:equivalentTo", source="Orphanet:15", source="DOID:4480", source="Orphanet:15/e"} xref: Orphanet:15 {source="MONDO:equivalentTo", source="OMIM:100800"} xref: SCTID:86268005 {source="MONDO:equivalentTo", source="DOID:4480"} xref: UMLS:C0001080 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:15", source="NCIT:C34345", source="DOID:4480", source="Orphanet:15/e", source="OMIM:100800"} is_a: EFO:0005571 {source="DOID:4480", source="MESH:D000130"} ! osteochondrodysplasia is_a: MONDO:0019685 {source="Orphanet:15", source="PMID:31633310"} ! FGFR3-related chondrodysplasia property_value: closeMatch http://identifiers.org/meddra/10000452 property_value: exactMatch DOID:4480 property_value: exactMatch http://identifiers.org/mesh/D000130 property_value: exactMatch http://identifiers.org/snomedct/86268005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001080 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q77.4 property_value: exactMatch https://omim.org/entry/100800 property_value: exactMatch NCIT:C34345 property_value: exactMatch Orphanet:15 property_value: excluded_subClassOf MONDO:0018232 {source="Orphanet:15"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6332 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8173/achondroplasia xsd:anyURI {source="GARD:0008173"} [Term] id: MONDO:0007039 name: neurofibromatosis type 2 def: "A tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas." [Orphanet:637] subset: clingen subset: ordo_disease {source="Orphanet:637"} synonym: "acoustic neurinoma bilateral" RELATED [GARD:0007193] synonym: "acoustic neurinoma, bilateral" RELATED [OMIM:101000] synonym: "acoustic neurofibromatosis" BROAD [NCIT:C3274] synonym: "acoustic schwannomas bilateral" RELATED [GARD:0007193] synonym: "acoustic Schwannomas, bilateral" RELATED [OMIM:101000] synonym: "bilateral acoustic neurofibromatosis" EXACT [NCIT:C3274, OMIM:101000, Orphanet:637] synonym: "central neurofibromatosis" EXACT [NCIT:C3274, Orphanet:637] synonym: "neurofibromatosis 2" EXACT [NCIT:C3274] synonym: "neurofibromatosis central type" RELATED [GARD:0007193] synonym: "neurofibromatosis type 2" EXACT [NCIT:C3274] synonym: "neurofibromatosis type II" RELATED [GARD:0007193] synonym: "neurofibromatosis, central type" RELATED [OMIM:101000] synonym: "neurofibromatosis, type 2" RELATED [OMIM:101000] synonym: "neurofibromatosis, type II" RELATED [MONDO:Lexical, OMIM:101000] synonym: "NF2" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C3274, OMIM:101000, Orphanet:637] xref: DOID:0111252 {source="MONDO:equivalentTo"} xref: ICD10CM:Q85.02 {source="MONDO:equivalentTo"} xref: ICD9:237.72 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10000523 {source="Orphanet:637", source="Orphanet:637/e"} xref: MedDRA:10029271 {source="Orphanet:637", source="Orphanet:637/e"} xref: MESH:D009464 {source="MONDO:relatedTo", source="Orphanet:637", source="Orphanet:637/e"} xref: NCIT:C3274 {source="MONDO:equivalentTo"} xref: OMIM:101000 {source="MONDO:equivalentTo", source="Orphanet:637", source="Orphanet:637/e"} xref: Orphanet:637 {source="OMIM:101000", source="MONDO:equivalentTo"} xref: SCTID:92503002 {source="MONDO:equivalentTo"} xref: UMLS:C0027832 {source="OMIM:101000", source="NCIT:C3274", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:637", source="Orphanet:637/e"} is_a: EFO:0008514 {source="NCIT:C3274"} ! neurofibromatosis property_value: closeMatch http://identifiers.org/meddra/10000523 property_value: closeMatch http://identifiers.org/meddra/10029271 property_value: exactMatch DOID:0111252 property_value: exactMatch http://identifiers.org/snomedct/92503002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027832 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q85.02 property_value: exactMatch https://omim.org/entry/101000 property_value: exactMatch NCIT:C3274 property_value: exactMatch Orphanet:637 [Term] id: MONDO:0007040 name: Sakati-Nyhan syndrome def: "An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections." [DOID:0060359, Wikipedia:Sakati–Nyhan–Tisdale_syndrome] subset: gard_rare synonym: "ACPS 3" RELATED [GARD:0000115, OMIM:101120] synonym: "ACPS with leg hypoplasia" EXACT [DOID:0060359] synonym: "ACPS3" RELATED ABBREVIATION [GARD:0000115] synonym: "acrocephalopolysyndactyly type 3" EXACT [DOID:0060359, GARD:0000115] synonym: "acrocephalopolysyndactyly type III" EXACT [DOID:0060359, OMIM:101120] synonym: "Sakati syndrome" RELATED [GARD:0000115] synonym: "Sakati-Nyhan syndrome" EXACT [GARD:0000115, OMIM:101120] synonym: "Sakati-Nyhan-Tisdale syndrome" EXACT [DOID:0060359] xref: DOID:0060359 {source="MONDO:equivalentTo"} xref: MESH:C537227 {source="MONDO:equivalentTo", source="DOID:0060359"} xref: OMIM:101120 {source="MONDO:equivalentTo", source="GARD:0000115", source="DOID:0060359"} xref: Orphanet:3128 {source="MONDO:equivalentObsolete", source="OMIM:101120", source="GARD:0000115", source="DOID:0060359"} xref: SCTID:403768004 {source="MONDO:equivalentTo"} xref: UMLS:C1275079 {source="OMIM:101120", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000078 {source="DC-OMIM:101120", source="Wikipedia:Sakati%E2%80%93Nyhan%E2%80%93Tisdale_syndrome"} ! acrocephalopolysyndactyly property_value: exactMatch DOID:0060359 property_value: exactMatch http://identifiers.org/mesh/C537227 property_value: exactMatch http://identifiers.org/snomedct/403768004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275079 property_value: exactMatch https://omim.org/entry/101120 [Term] id: MONDO:0007041 name: Apert syndrome def: "Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." [Orphanet:87] subset: ordo_malformation_syndrome {source="Orphanet:87"} synonym: "acrocephalo-syndactyly type 1" RELATED [GARD:0005833] synonym: "acrocephalosyndactyly type 1" EXACT [Orphanet:87] synonym: "acrocephalosyndactyly type I" EXACT [NCIT:C99099] synonym: "acrocephalosyndactyly, type 1" RELATED [OMIM:101200] synonym: "acrocephalosyndactyly, type 2" RELATED [OMIM:101200] synonym: "ACS 1" RELATED [OMIM:101200] synonym: "ACS 2" RELATED [OMIM:101200] synonym: "ACS1" EXACT ABBREVIATION [Orphanet:87] synonym: "Apert syndrome" EXACT [OMIM:101200] synonym: "Apert-Crouzon disease" RELATED [OMIM:101200] synonym: "syndactylic oxycephaly" RELATED [GARD:0005833] synonym: "type I Acrocephalosyndactyly" EXACT [NCIT:C99099] synonym: "Vogt Cephalodactyly" RELATED [OMIM:101200] xref: MedDRA:10002943 {source="Orphanet:87", source="Orphanet:87/e"} xref: MESH:D000168 {source="Orphanet:87", source="MONDO:equivalentTo", source="Orphanet:87/e"} xref: NCIT:C99099 {source="MONDO:equivalentTo"} xref: OMIM:101200 {source="Orphanet:87", source="MONDO:equivalentTo", source="Orphanet:87/e"} xref: Orphanet:87 {source="MONDO:equivalentTo", source="OMIM:101200"} xref: SCTID:205258009 {source="MONDO:equivalentTo"} xref: UMLS:C0001193 {source="Orphanet:87", source="MONDO:equivalentTo", source="OMIM:101200", source="Orphanet:87/e", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C99099"} is_a: MONDO:0018187 ! hereditary syndromic Pierre Robin syndrome is_a: MONDO:0018751 ! hereditary otorhinolaryngologic disease is_a: MONDO:0019796 {source="NCIT:C99099", source="Orphanet:87"} ! acrocephalosyndactyly property_value: closeMatch http://identifiers.org/meddra/10002943 property_value: exactMatch http://identifiers.org/mesh/D000168 property_value: exactMatch http://identifiers.org/snomedct/205258009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001193 property_value: exactMatch https://omim.org/entry/101200 property_value: exactMatch NCIT:C99099 property_value: exactMatch Orphanet:87 property_value: excluded_subClassOf MONDO:0015368 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6332 xsd:anyURI [Term] id: MONDO:0007042 name: Saethre-Chotzen syndrome def: "Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." [Orphanet:794] subset: gard_rare {source="GARD:0007598"} subset: ordo_malformation_syndrome {source="Orphanet:794"} synonym: "acrocephalo-syndactyly, type 3" RELATED [GARD:0007598] synonym: "acrocephalosyndactyly type 3" EXACT [Orphanet:794] synonym: "acrocephalosyndactyly type III" RELATED [DOID:14768] synonym: "acrocephalosyndactyly, type 3" RELATED [OMIM:101400] synonym: "acrocephaly, skull asymmetry, and mild syndactyly" RELATED [OMIM:101400] synonym: "ACS 3" RELATED [OMIM:101400] synonym: "ACS3" EXACT ABBREVIATION [Orphanet:794] synonym: "blepharophimosis, epicanthus inversus, and ptosis 3" RELATED DEPRECATED [OMIM:101400] synonym: "blepharophimosis, epicanthus inversus, and ptosis 3, formerly" RELATED DEPRECATED [OMIM:101400] synonym: "blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)" RELATED DEPRECATED [GARD:0007598] synonym: "Chotzen syndrome" RELATED [OMIM:101400] synonym: "Saethre-Chotzen syndrome" EXACT [MONDO:Lexical, OMIM:101400] synonym: "Saethre-Chotzen syndrome with eyelid anomalies" RELATED [OMIM:101400] synonym: "Saethre-Chotzen syndrome with or without eyelid anomalies" EXACT [OMIM:101400, OMIM:genemap2] synonym: "SCS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:101400, Orphanet:794] synonym: "type III Acrocephalosyndactyly" EXACT [NCIT:C75034] xref: DOID:14768 {source="MONDO:equivalentTo"} xref: EFO:0007029 {source="MONDO:equivalentTo"} xref: MESH:D000168 {source="DOID:14768", source="MONDO:directSiblingOf"} xref: NCIT:C75034 {source="DOID:14768", source="MONDO:equivalentTo"} xref: OMIM:101400 {source="DOID:14768", source="Orphanet:794/e", source="MONDO:equivalentTo", source="Orphanet:794"} xref: Orphanet:794 {source="MONDO:equivalentTo", source="OMIM:101400"} xref: SCTID:83015004 {source="DOID:14768", source="MONDO:equivalentTo"} xref: UMLS:C0175699 {source="DOID:14768", source="Orphanet:794/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C75034", source="OMIM:101400", source="Orphanet:794"} is_a: MONDO:0019796 {source="DOID:14768", source="NCIT:C75034", source="Orphanet:794"} ! acrocephalosyndactyly is_a: MONDO:0020158 {source="MONDO:0020169-obsoleted"} ! eyelids malposition disorder property_value: exactMatch DOID:14768 property_value: exactMatch http://identifiers.org/snomedct/83015004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0175699 property_value: exactMatch https://omim.org/entry/101400 property_value: exactMatch NCIT:C75034 property_value: exactMatch Orphanet:794 property_value: excluded_subClassOf MONDO:0015368 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7598/saethre-chotzen-syndrome xsd:anyURI {source="GARD:0007598"} [Term] id: MONDO:0007043 name: Pfeiffer syndrome def: "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations." [Orphanet:710] subset: gard_rare {source="GARD:0007380"} subset: ordo_malformation_syndrome {source="Orphanet:710"} synonym: "acrocephalosyndactylia type V" EXACT [DOID:14705] synonym: "acrocephalosyndactyly type 5" EXACT [Orphanet:710] synonym: "acrocephalosyndactyly type V" EXACT [NCIT:C99100] synonym: "acrocephalosyndactyly, type 5" RELATED [OMIM:101600] synonym: "ACS 5" RELATED [OMIM:101600] synonym: "ACS5" EXACT ABBREVIATION [Orphanet:710] synonym: "craniofacial-skeletal-Dermatologic dysplasia" RELATED [OMIM:101600] synonym: "Noack syndrome" RELATED [OMIM:101600, Wikipedia:Acrocephalosyndactylia] synonym: "Pfeiffer syndrome" EXACT [OMIM:101600] synonym: "Pfeiffer type acrocephalosyndactyly" RELATED [GARD:0007380] synonym: "type V Acrocephalosyndactyly" EXACT [NCIT:C99100] xref: DOID:14705 {source="MONDO:equivalentTo"} xref: MESH:D000168 {source="DOID:14705", source="MONDO:directSiblingOf"} xref: NCIT:C99100 {source="DOID:14705", source="MONDO:equivalentTo"} xref: OMIM:101600 {source="Orphanet:710", source="DOID:14705", source="MONDO:equivalentTo", source="Orphanet:710/e"} xref: Orphanet:710 {source="MONDO:equivalentTo", source="OMIM:101600"} xref: SCTID:70410008 {source="DOID:14705", source="MONDO:equivalentTo"} xref: UMLS:C0220658 {source="Orphanet:710", source="DOID:14705", source="MONDO:equivalentTo", source="NCIT:C99100", source="OMIM:101600"} is_a: MONDO:0000078 {source="Wikipedia:Acrocephalosyndactylia"} ! acrocephalopolysyndactyly property_value: exactMatch DOID:14705 property_value: exactMatch http://identifiers.org/snomedct/70410008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220658 property_value: exactMatch https://omim.org/entry/101600 property_value: exactMatch NCIT:C99100 property_value: exactMatch Orphanet:710 property_value: excluded_subClassOf MONDO:0015368 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7380/pfeiffer-syndrome xsd:anyURI {source="GARD:0007380"} [Term] id: MONDO:0007045 name: acrofacial dysostosis, Catania type def: "Acrofacialdysostosis, Catania type is a very rare type of acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males." [Orphanet:1786] subset: ordo_malformation_syndrome {source="Orphanet:1786"} synonym: "acrofacial dysostosis Catania type" RELATED [GARD:0000494] synonym: "acrofacial dysostosis, Catania type" EXACT [OMIM:101805] synonym: "AFD Catania type" RELATED [GARD:0000494] synonym: "Afd, Catania type" RELATED [OMIM:101805] synonym: "Opitz Mollica Sorge syndrome" EXACT [DOID:0060384] synonym: "Opitz-Caltabiano syndrome" EXACT [DOID:0060384, Orphanet:1786] xref: DOID:0060384 {source="MONDO:equivalentTo"} xref: MESH:C538182 {source="DOID:0060384", source="MONDO:equivalentTo", source="Orphanet:1786", source="Orphanet:1786/e"} xref: OMIM:101805 {source="DOID:0060384", source="MONDO:equivalentTo", source="Orphanet:1786", source="Orphanet:1786/e"} xref: Orphanet:1786 {source="DOID:0060384", source="OMIM:101805", source="MONDO:equivalentTo"} xref: SCTID:720419000 {source="MONDO:equivalentTo"} xref: UMLS:C2931762 {source="DOID:0060384", source="OMIM:101805", source="MONDO:equivalentTo", source="Orphanet:1786", source="Orphanet:1786/e"} is_a: MONDO:0015159 {source="Orphanet:1786"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015334 {source="Orphanet:1786"} ! branchial arch or oral-acral syndrome is_a: MONDO:0018237 {source="DC-OMIM:101805", source="DOID:0060384", source="Orphanet:1786"} ! acrofacial dysostosis property_value: exactMatch DOID:0060384 property_value: exactMatch http://identifiers.org/mesh/C538182 property_value: exactMatch http://identifiers.org/snomedct/720419000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931762 property_value: exactMatch https://omim.org/entry/101805 property_value: exactMatch Orphanet:1786 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1786"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0007051 name: acromegaloid facial appearance syndrome def: "Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome." [Orphanet:965] subset: gard_rare {source="GARD:0000501"} subset: ordo_malformation_syndrome {source="Orphanet:965"} synonym: "acromegaloid facial appearance syndrome" EXACT [OMIM:102150] synonym: "AFA syndrome" RELATED [OMIM:102150] synonym: "thick lips and oral mucosa" RELATED [OMIM:102150] xref: MESH:C535655 {source="Orphanet:965", source="MONDO:equivalentTo", source="Orphanet:965/e"} xref: OMIM:102150 {source="Orphanet:965", source="MONDO:equivalentTo", source="Orphanet:965/e"} xref: Orphanet:965 {source="OMIM:102150", source="MONDO:equivalentObsolete"} xref: SCTID:720456009 {source="MONDO:equivalentTo"} xref: UMLS:C0796280 {source="OMIM:102150", source="Orphanet:965", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:965/e"} is_a: MONDO:0015160 {source="Orphanet:965"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C535655 property_value: exactMatch http://identifiers.org/snomedct/720456009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796280 property_value: exactMatch https://omim.org/entry/102150 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/501/acromegaloid-facial-appearance-syndrome xsd:anyURI {source="GARD:0000501"} [Term] id: MONDO:0007055 name: Acromicric dysplasia def: "A rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands." [https://orcid.org/0000-0001-5208-3432, Orphanet:969] subset: gard_rare {source="GARD:0000007"} subset: ordo_malformation_syndrome {source="Orphanet:969"} synonym: "ACMICD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:102370] synonym: "Acromicric dysplasia" EXACT [MONDO:Lexical, OMIM:102370] synonym: "Acromicric skeletal dysplasia" RELATED [GARD:0000007] xref: DOID:0111243 {source="MONDO:equivalentTo"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535662 {source="MONDO:equivalentTo", source="Orphanet:969", source="Orphanet:969/e"} xref: OMIM:102370 {source="MONDO:equivalentTo", source="Orphanet:969", source="Orphanet:969/e"} xref: Orphanet:969 {source="OMIM:102370", source="MONDO:equivalentTo"} xref: SCTID:254090007 {source="MONDO:equivalentTo"} is_a: MONDO:0019695 {source="Orphanet:969", source="PMID:31633310"} ! acromelic dysplasia property_value: exactMatch DOID:0111243 property_value: exactMatch http://identifiers.org/mesh/C535662 property_value: exactMatch http://identifiers.org/snomedct/254090007 property_value: exactMatch https://omim.org/entry/102370 property_value: exactMatch Orphanet:969 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6332 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7/acromicric-dysplasia xsd:anyURI {source="GARD:0000007"} [Term] id: MONDO:0007056 name: acroosteolysis def: "A condition that is characterized by degeneration of the distal phalanges." [NCIT:C35545] synonym: "acroosteolysis" EXACT [OMIM:102400] xref: MESH:D030981 {source="MONDO:equivalentTo"} xref: NCIT:C35545 {source="MONDO:equivalentTo"} xref: OMIM:102400 {source="MONDO:equivalentTo"} xref: SCTID:27201004 {source="MONDO:equivalentTo"} is_a: MONDO:0019707 {source="Orphanet:955"} ! primary osteolysis property_value: exactMatch http://identifiers.org/mesh/D030981 property_value: exactMatch http://identifiers.org/snomedct/27201004 property_value: exactMatch https://omim.org/entry/102400 property_value: exactMatch NCIT:C35545 [Term] id: MONDO:0007057 name: Acroosteolysis dominant type def: "A rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics." [https://orcid.org/0000-0001-5208-3432, Orphanet:955] subset: gard_rare {source="GARD:0000508"} subset: ordo_malformation_syndrome {source="Orphanet:955"} synonym: "acrodentoosteodysplasia" EXACT [Orphanet:955] synonym: "acroosteolysis with osteoporosis and changes in skull and mandible" EXACT [OMIM:102500, Orphanet:955] synonym: "Arthrodentoosteodysplasia" EXACT [Orphanet:955] synonym: "Cheney syndrome" EXACT [OMIM:102500, Orphanet:955] synonym: "Hajdu-Cheney syndrome" EXACT [MONDO:Lexical, OMIM:102500, Orphanet:955] synonym: "HJCYS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:102500] synonym: "serpentine fibula polycystic kidney syndrome" EXACT [MESH:C537586] synonym: "serpentine fibula-polycystic kidney syndrome" EXACT [OMIM:102500] synonym: "serpentine fibula-polycystic kidneys syndrome" EXACT [GARD:0000508] xref: DOID:2736 {source="MONDO:equivalentTo"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C531695 {source="MONDO:equivalentObsolete", source="Orphanet:955", source="Orphanet:955/e"} xref: MESH:C535663 {source="Orphanet:955", source="MONDO:equivalentTo", source="Orphanet:955/e"} xref: MESH:C537586 {source="MONDO:equivalentTo"} xref: NCIT:C84745 {source="MONDO:equivalentTo", source="DOID:2736"} xref: OMIM:102500 {source="Orphanet:955", source="MONDO:equivalentTo", source="DOID:2736", source="Orphanet:955/e"} xref: Orphanet:955 {source="MONDO:equivalentTo", source="OMIM:102500"} xref: SCTID:63122002 {source="MONDO:equivalentTo", source="DOID:2736"} xref: UMLS:C0917715 {source="NCIT:C84745", source="Orphanet:955", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:102500", source="DOID:2736", source="Orphanet:955/e"} xref: UMLS:C2930971 {source="Orphanet:955", source="MONDO:equivalentTo", source="Orphanet:955/e"} is_a: EFO:0005755 {source="Orphanet:955"} ! rheumatic disease is_a: MONDO:0000426 {source="DOID:2736", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0003157 {source="MESH:D010015"} ! disappearing bone disease is_a: MONDO:0007056 {source="MESH:C535663"} ! acroosteolysis is_a: MONDO:0023603 ! hereditary disorder of connective tissue property_value: exactMatch DOID:2736 property_value: exactMatch http://identifiers.org/mesh/C535663 property_value: exactMatch http://identifiers.org/mesh/C537586 property_value: exactMatch http://identifiers.org/snomedct/63122002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0917715 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930971 property_value: exactMatch https://omim.org/entry/102500 property_value: exactMatch NCIT:C84745 property_value: exactMatch Orphanet:955 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6332 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/508/acroosteolysis-dominant-type xsd:anyURI {source="GARD:0000508"} [Term] id: MONDO:0007058 name: Acropectorovertebral dysplasia def: "A skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones)." [https://orcid.org/0000-0001-5208-3432, Orphanet:957] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:957"} synonym: "Acropectorovertebral dysplasia" EXACT [GARD:0000512, MONDO:Lexical, OMIM:102510] synonym: "Acropectorovertebral dysplasia F form" RELATED [GARD:0000512] synonym: "ACRPV" RELATED ABBREVIATION [GARD:0000512, MONDO:Lexical, OMIM:102510] synonym: "F syndrome" EXACT [GARD:0000512, OMIM:102510, Orphanet:957] xref: MESH:C566319 {source="MONDO:equivalentTo"} xref: OMIM:102510 {source="GARD:0000512", source="MONDO:equivalentTo", source="Orphanet:957", source="Orphanet:957/e"} xref: Orphanet:957 {source="GARD:0000512", source="MONDO:equivalentTo", source="OMIM:102510"} xref: SCTID:720457000 {source="MONDO:equivalentTo"} xref: UMLS:C1863307 {source="GARD:0000512", source="MONDO:equivalentTo", source="Orphanet:957", source="MONDO:ncbi_mim2gene_medline", source="OMIM:102510"} is_a: MONDO:0015929 {source="Orphanet:957"} ! thoracic malformation is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism property_value: exactMatch http://identifiers.org/mesh/C566319 property_value: exactMatch http://identifiers.org/snomedct/720457000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863307 property_value: exactMatch https://omim.org/entry/102510 property_value: exactMatch Orphanet:957 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6332 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/512/acropectorovertebral-dysplasia-f-form xsd:anyURI {source="GARD:0000512"} [Term] id: MONDO:0007059 name: acrorenal syndrome def: "Acrorenal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected." [Orphanet:971] subset: ordo_malformation_syndrome {source="Orphanet:971"} synonym: "acrorenal syndrome" EXACT [OMIM:102520] xref: DOID:0060347 {source="MONDO:equivalentTo"} xref: MESH:C563159 {source="DOID:0060347", source="MONDO:equivalentTo"} xref: OMIM:102520 {source="Orphanet:971/e", source="DOID:0060347", source="MONDO:equivalentTo", source="Orphanet:971"} xref: Orphanet:971 {source="MONDO:equivalentTo", source="OMIM:102520"} xref: SCTID:720458005 {source="MONDO:equivalentTo"} xref: UMLS:C3495490 {source="DOID:0060347", source="MONDO:equivalentTo", source="OMIM:102520", source="Orphanet:971"} xref: UMLS:CN206860 {source="MONDO:equivalentTo"} is_a: MONDO:0015161 {source="Orphanet:971"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability property_value: exactMatch DOID:0060347 property_value: exactMatch http://identifiers.org/mesh/C563159 property_value: exactMatch http://identifiers.org/snomedct/720458005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3495490 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206860 property_value: exactMatch https://omim.org/entry/102520 property_value: exactMatch Orphanet:971 [Term] id: MONDO:0007062 name: adactylia, unilateral def: "A rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced." [Orphanet:973] subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:973"} synonym: "adactylia unilateral" EXACT [GARD:0000377] synonym: "adactylia, unilateral" EXACT [OMIM:102650] synonym: "Adactyly of hand, unilateral" EXACT [Orphanet:973] synonym: "congenital absence/hypoplasia of fingers excluding thumb, unilateral" EXACT [Orphanet:973] synonym: "digits 2-5 hypodactyly, unilateral" EXACT [Orphanet:973] synonym: "digits 2-5 oligodactyly, unilateral" EXACT [Orphanet:973] synonym: "terminal transverse defects of hand, unilateral" RELATED [GARD:0000377, OMIM:102650] xref: MESH:C562417 {source="MONDO:equivalentTo"} xref: OMIM:102650 {source="Orphanet:973", source="GARD:0000377", source="MONDO:equivalentTo", source="Orphanet:973/e"} xref: Orphanet:973 {source="OMIM:102650", source="GARD:0000377", source="MONDO:equivalentTo"} is_a: MONDO:0017448 {source="Orphanet:973"} ! congenital absence/hypoplasia of fingers excluding thumb property_value: exactMatch http://identifiers.org/mesh/C562417 property_value: exactMatch https://omim.org/entry/102650 property_value: exactMatch Orphanet:973 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/377/adactylia-unilateral xsd:anyURI {source="GARD:0000377"} [Term] id: MONDO:0007064 name: severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency def: "A form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections." [Orphanet:277] subset: gard_rare {source="GARD:0005748"} subset: ordo_disease {source="Orphanet:277"} synonym: "ADA" EXACT ABBREVIATION [DOID:5810] synonym: "ADA deficiency" EXACT [Orphanet:277] synonym: "ADA-SCID" EXACT [OMIM:102700] synonym: "adenosine deaminase deficiency" EXACT [DOID:5810, NCIT:C3962] synonym: "adenosine deaminase deficiency, partial" RELATED [OMIM:102700] synonym: "adenosine deaminase deficiency, partial, Autosomal recessive, Somatic mosaicism" EXACT [OMIM:102700, OMIM:genemap2] synonym: "adenosine deaminase deficient severe combined immunodeficiency" EXACT [GARD:0005748] synonym: "partial ADA deficiency" RELATED [OMIM:102700] synonym: "SCID due to ADA deficiency" EXACT [OMIM:102700] synonym: "SCID due to ADA deficiency, delayed onset" RELATED [OMIM:102700] synonym: "SCID due to ADA deficiency, early-onset" EXACT [OMIM:102700] synonym: "SCID due to ADA deficiency, late-onset" RELATED [OMIM:102700] synonym: "SCID due to adenosine deaminase deficiency" EXACT [Orphanet:277] synonym: "severe combined immunodeficiency due to ADA deficiency" RELATED [GARD:0005748] synonym: "severe combined immunodeficiency due to ADA deficiency, Autosomal recessive, Somatic mosaicism" EXACT [OMIM:102700, OMIM:genemap2] synonym: "severe combined immunodeficiency due to adenosine deaminase deficiency" RELATED [GARD:0005748] synonym: "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency" EXACT [OMIM:102700] xref: CSP:1560-6660 {source="DOID:5810"} xref: DOID:5810 {source="MONDO:equivalentTo"} xref: EFO:0009147 {source="MONDO:equivalentTo"} xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10066367 {source="Orphanet:277/e", source="Orphanet:277"} xref: MESH:C531816 {source="Orphanet:277/e", source="MONDO:equivalentTo", source="Orphanet:277"} xref: NCIT:C3962 {source="DOID:5810", source="MONDO:equivalentTo"} xref: OMIM:102700 {source="DOID:5810", source="Orphanet:277/e", source="MONDO:equivalentTo", source="Orphanet:277"} xref: Orphanet:277 {source="MONDO:equivalentTo", source="OMIM:102700"} xref: SCTID:44940001 {source="DOID:5810", source="MONDO:equivalentTo"} is_a: MONDO:0017855 {source="Orphanet:277", source="PMID:31953710"} ! T-B- severe combined immunodeficiency is_a: MONDO:0019236 {source="Orphanet:277"} ! inborn disorder of purine metabolism is_a: MONDO:0031520 {source="DC-OMIM:102700", source="DOID:5810", source="MESH:C531816", source="MONDO:Redundant", source="NCIT:C3962", source="Orphanet:277/inferred"} ! familial severe combined immunodeficiency property_value: closeMatch http://identifiers.org/meddra/10066367 property_value: exactMatch DOID:5810 property_value: exactMatch http://identifiers.org/mesh/C531816 property_value: exactMatch http://identifiers.org/snomedct/44940001 property_value: exactMatch https://omim.org/entry/102700 property_value: exactMatch NCIT:C3962 property_value: exactMatch Orphanet:277 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4200 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5748/adenosine-deaminase-deficiency xsd:anyURI {source="GARD:0005748"} [Term] id: MONDO:0007066 name: adenosine triphosphatase deficiency, anemia due to subset: gard_rare {source="GARD:0000548"} synonym: "adenosine triphosphatase deficiency anaemia" RELATED OMO:0003005 [] synonym: "adenosine triphosphatase deficiency anemia" RELATED [GARD:0000548] synonym: "adenosine triphosphatase deficiency, anemia due to" EXACT [OMIM:102800] synonym: "anaemia due to adenosine triphosphatase deficiency" RELATED OMO:0003005 [] synonym: "anemia due to adenosine triphosphatase deficiency" RELATED [GARD:0000548] xref: MESH:C566311 {source="MONDO:equivalentTo"} xref: OMIM:102800 {source="MONDO:equivalentTo"} xref: Orphanet:1044 {source="MONDO:equivalentObsolete", source="OMIM:102800"} xref: SCTID:725057008 {source="MONDO:equivalentTo"} xref: UMLS:C1863225 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:102800"} is_a: EFO:0000508 {source="MESH:C566311/inferred", source="Orphanet:1044/inferred"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C566311 property_value: exactMatch http://identifiers.org/snomedct/725057008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863225 property_value: exactMatch https://omim.org/entry/102800 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/548/anemia-due-to-adenosine-triphosphatase-deficiency xsd:anyURI {source="GARD:0000548"} [Term] id: MONDO:0007068 name: adenylosuccinate lyase deficiency def: "Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features." [Orphanet:46] subset: ordo_disease {source="Orphanet:46"} synonym: "adenylosuccinase deficiency" EXACT [OMIM:103050, Orphanet:46] synonym: "adenylosuccinase lyase deficiency" RELATED [DOID:0050762] synonym: "adenylosuccinate lyase deficiency" EXACT [OMIM:103050] synonym: "ADSL deficiency" EXACT [Orphanet:46] synonym: "Adsl deficiency" RELATED [OMIM:103050] synonym: "ADSLD" RELATED ABBREVIATION [OMIM:103050] synonym: "inborn (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity disorder" EXACT [] synonym: "inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity" EXACT [MONDO:patterns/inborn_metabolic] synonym: "rare inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity" EXACT [MONDO:patterns/inborn_metabolic] xref: DOID:0050762 {source="MONDO:equivalentTo"} xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538235 {source="Orphanet:46", source="MONDO:equivalentTo", source="Orphanet:46/e"} xref: OMIM:103050 {source="Orphanet:46", source="MONDO:equivalentTo", source="Orphanet:46/e"} xref: Orphanet:46 {source="MONDO:equivalentTo", source="OMIM:103050"} xref: SCTID:15285008 {source="MONDO:equivalentTo"} xref: UMLS:C0268126 {source="Orphanet:46", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:46/e", source="OMIM:103050"} is_a: MONDO:0004736 {source="DOID:0050762"} ! inborn disorder of amino acid metabolism is_a: MONDO:0019236 {source="Orphanet:46"} ! inborn disorder of purine metabolism property_value: exactMatch DOID:0050762 property_value: exactMatch http://identifiers.org/mesh/C538235 property_value: exactMatch http://identifiers.org/snomedct/15285008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268126 property_value: exactMatch https://omim.org/entry/103050 property_value: exactMatch Orphanet:46 [Term] id: MONDO:0007072 name: ADULT syndrome def: "ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia." [Orphanet:978] subset: ordo_malformation_syndrome {source="Orphanet:978"} synonym: "acro dermato ungual lacrimal tooth syndrome" RELATED [GARD:0000384] synonym: "acro-dermato-ungual-lacrimal-Tooth syndrome" RELATED [OMIM:103285] synonym: "acro-dermato-ungual-lacrimal-tooth syndrome" EXACT [DOID:0050601, Orphanet:978] synonym: "acrodermatounguallacrimaltooth syndrome" EXACT [Orphanet:978] synonym: "ADULT syndrome" EXACT [OMIM:103285] synonym: "pigment anomaly-ectrodactyly-hypodontia syndrome" EXACT [Orphanet:978] xref: DOID:0050601 {source="MONDO:equivalentTo"} xref: MESH:C538052 {source="MONDO:equivalentTo", source="Orphanet:978", source="Orphanet:978/e"} xref: OMIM:103285 {source="DOID:0050601", source="MONDO:equivalentTo", source="Orphanet:978", source="Orphanet:978/e"} xref: Orphanet:978 {source="OMIM:103285", source="MONDO:equivalentTo"} xref: SCTID:720464003 {source="MONDO:equivalentTo"} xref: UMLS:C1863204 {source="OMIM:103285", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:978", source="Orphanet:978/e"} is_a: MONDO:0000426 {source="DOID:0050601", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation is_a: MONDO:0020197 {source="Orphanet:978"} ! EEC syndrome and related syndrome property_value: exactMatch DOID:0050601 property_value: exactMatch http://identifiers.org/mesh/C538052 property_value: exactMatch http://identifiers.org/snomedct/720464003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863204 property_value: exactMatch https://omim.org/entry/103285 property_value: exactMatch Orphanet:978 [Term] id: MONDO:0007073 name: Hypoglossia-hypodactyly syndrome def: "A rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person." [GARD:0000068, https://orcid.org/0000-0001-5208-3432] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:989"} synonym: "aglossia adactylia" RELATED [GARD:0000068] synonym: "aglossia-adactylia" RELATED [OMIM:103300] synonym: "aglossia-adactylia syndrome" EXACT [Orphanet:989] synonym: "Hanhart syndrome" EXACT [OMIM:103300, Orphanet:989] synonym: "Hypoglossia-hypodactylia" RELATED [OMIM:103300] synonym: "Hypoglossia-hypodactylia syndrome" RELATED [GARD:0000068] synonym: "Jussieu syndrome" EXACT [Orphanet:989] synonym: "oromandibular limb hypoplasia" RELATED [OMIM:103300] synonym: "peromelia with micrognathia" RELATED [GARD:0000068] synonym: "peromelia with micrognathism" RELATED [OMIM:103300] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:103300 {source="GARD:0000068", source="MONDO:equivalentTo", source="Orphanet:989", source="Orphanet:989/e"} xref: Orphanet:989 {source="GARD:0000068", source="MONDO:equivalentTo", source="OMIM:103300"} xref: SCTID:35031005 {source="MONDO:equivalentTo"} is_a: MONDO:0015160 {source="Orphanet:989"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0015334 {source="Orphanet:989"} ! branchial arch or oral-acral syndrome is_a: MONDO:0017139 {source="Orphanet:989"} ! oromandibular-limb hypogenesis syndrome is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect property_value: exactMatch http://identifiers.org/snomedct/35031005 property_value: exactMatch https://omim.org/entry/103300 property_value: exactMatch Orphanet:989 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6332 xsd:anyURI [Term] id: MONDO:0007077 name: Tietz syndrome def: "Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair." [Orphanet:42665] comment: Editor note: consider classification under albinism subset: gard_rare {source="GARD:0007772"} subset: ordo_malformation_syndrome {source="Orphanet:42665"} synonym: "albinism-deafness of Tietz" EXACT [DOID:0090002] synonym: "hypopigmentation-deafness syndrome" EXACT [Orphanet:42665] synonym: "hypopigmentation/deafness of Tietz" EXACT [DOID:0090002, OMIM:103500] synonym: "TADS" RELATED ABBREVIATION [OMIM:103500] synonym: "Tietz albinism-deafness syndrome" EXACT [DOID:0090002, OMIM:103500] synonym: "Tietz syndrome" EXACT [OMIM:103500] xref: DOID:0090002 {source="MONDO:equivalentTo"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536919 {source="Orphanet:42665", source="MONDO:equivalentTo", source="Orphanet:42665/e"} xref: OMIM:103500 {source="Orphanet:42665", source="MONDO:equivalentTo", source="DOID:0090002", source="Orphanet:42665/e"} xref: Orphanet:42665 {source="MONDO:equivalentTo", source="DOID:0090002", source="OMIM:103500"} xref: SCTID:403805009 {source="MONDO:equivalentTo"} xref: UMLS:C0391816 {source="Orphanet:42665", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:42665/e", source="OMIM:103500"} is_a: EFO:0003966 ! eye disease is_a: MONDO:0019290 {source="MESH:C536919/inferred", source="Orphanet:42665"} ! hypopigmentation of the skin relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch DOID:0090002 property_value: exactMatch http://identifiers.org/mesh/C536919 property_value: exactMatch http://identifiers.org/snomedct/403805009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0391816 property_value: exactMatch https://omim.org/entry/103500 property_value: exactMatch Orphanet:42665 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7772/tietz-syndrome xsd:anyURI {source="GARD:0007772"} [Term] id: MONDO:0007078 name: Pseudohypoparathyroidism type 1A def: "A type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO)." [Orphanet:79443] subset: gard_rare subset: ordo_disease {source="Orphanet:79443"} synonym: "AHO" RELATED ABBREVIATION [GARD:0005770] synonym: "AHO-PHP syndrome Ia" EXACT [Orphanet:79443] synonym: "Albright hereditary osteodystrophy" EXACT [GARD:0005770] synonym: "Albright hereditary osteodystrophy with multiple hormone resistance" EXACT [NCIT:C129721] synonym: "Albright hereditary osteodystrophy-PHP syndrome Ia" EXACT [Orphanet:79443] synonym: "Albright's hereditary osteodystrophy" EXACT [DOID:0080053] synonym: "PHP 1A" RELATED [OMIM:103580] synonym: "PHP1A" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C129721, OMIM:103580] synonym: "Pseudohypoparathyroidism Ia" EXACT [OMIM:103580, OMIM:genemap2] synonym: "Pseudohypoparathyroidism type 1A" EXACT [DOID:0080053, NCIT:C129721] synonym: "Pseudohypoparathyroidism, type 1A" RELATED [OMIM:103580] synonym: "Pseudohypoparathyroidism, type IA" RELATED [MONDO:Lexical, OMIM:103580] xref: DOID:0080053 {source="MONDO:equivalentTo"} xref: ICD9:275.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537045 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: NCIT:C129721 {source="MONDO:equivalentTo"} xref: OMIM:103580 {source="DOID:0080053", source="Orphanet:79443/e", source="MONDO:equivalentTo", source="Orphanet:79443", source="GARD:0005770"} xref: Orphanet:79443 {source="OMIM:103580", source="MONDO:equivalentTo"} xref: SCTID:58833000 {source="MONDO:equivalentTo"} xref: UMLS:C2931404 {source="MONDO:equivalentTo"} xref: UMLS:C3494506 {source="OMIM:103580", source="Orphanet:79443/e", source="MONDO:equivalentTo", source="NCIT:C129721", source="Orphanet:79443"} is_a: MONDO:0016565 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! syndromic genetic obesity is_a: MONDO:0019695 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! acromelic dysplasia is_a: MONDO:0019992 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! pseudohypoparathyroidism is_a: MONDO:0800094 {source="PMID:31633310"} ! dysostosis with brachydactyly with extraskeletal manifestations property_value: exactMatch DOID:0080053 property_value: exactMatch http://identifiers.org/mesh/C537045 property_value: exactMatch http://identifiers.org/snomedct/58833000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931404 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3494506 property_value: exactMatch https://omim.org/entry/103580 property_value: exactMatch NCIT:C129721 property_value: exactMatch Orphanet:79443 property_value: excluded_subClassOf MONDO:0005093 {source="MONDO:0018798-obsoleted"} property_value: excluded_subClassOf MONDO:0021154 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5682 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6332 xsd:anyURI [Term] id: MONDO:0007079 name: alcohol dependence def: "Physical and psychological dependence on alcohol." [NCIT:P378] synonym: "aerodigestive tract cancer, squamous cell, alcohol-related, protection against" RELATED [OMIM:103780] synonym: "alcohol dependence" EXACT [OMIM:103780] synonym: "alcohol dependence, protection against" RELATED [OMIM:103780] synonym: "alcohol dependence, susceptibility to" RELATED [OMIM:103780, OMIM:genemap2] synonym: "alcoholism" EXACT [DOID:0050741] xref: DOID:0050741 {source="MONDO:equivalentTo", source="EFO:0003829"} xref: EFO:0003829 {source="DOID:0050741", source="MONDO:equivalentTo"} xref: ICD9:303.90 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:305.0 {source="EFO:0003829"} xref: MESH:D000437 {source="MONDO:relatedTo", source="EFO:0003829"} xref: MESH:D010610 {source="MONDO:relatedTo", source="DOID:0050741"} xref: MESH:D019973 {source="MONDO:relatedTo", source="EFO:0003829"} xref: NCIT:C3325 {source="MONDO:relatedTo", source="DOID:0050741"} xref: NCIT:C93040 {source="MONDO:equivalentTo", source="EFO:0003829"} xref: OMIM:103780 {source="DOID:0050741", source="MONDO:equivalentTo", source="EFO:0003829"} xref: SCTID:66590003 {source="MONDO:equivalentTo", source="EFO:0003829"} is_a: EFO:0003890 {source="EFO:0003829"} ! drug dependence is_a: MONDO:0021698 ! alcohol-related disorders property_value: exactMatch DOID:0050741 property_value: exactMatch DOID:0050741 property_value: exactMatch http://identifiers.org/snomedct/66590003 property_value: exactMatch http://identifiers.org/snomedct/66590003 property_value: exactMatch https://omim.org/entry/103780 property_value: exactMatch https://omim.org/entry/103780 property_value: exactMatch NCIT:C93040 property_value: exactMatch NCIT:C93040 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007080 name: glucocorticoid-remediable aldosteronism def: "Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol." [Orphanet:403] subset: gard_rare {source="GARD:0002790"} subset: ordo_disease {source="Orphanet:403"} synonym: "ACTH-dependent hyperaldosteronism syndrome" RELATED [OMIM:103900] synonym: "aldosteronism, glucocorticoid-remediable" EXACT [OMIM:103900, OMIM:genemap2] synonym: "aldosteronism, sensitive to dexamethasone" RELATED [OMIM:103900] synonym: "dexamethasone sensitive hypertension" RELATED [GARD:0002790] synonym: "dexamethasone-sensitive hypertension" EXACT [Orphanet:403] synonym: "familial hyperaldosteronism type 1" EXACT [Orphanet:403] synonym: "familial hyperaldosteronism type I" RELATED [Orphanet:403] synonym: "FH 1" RELATED [OMIM:103900] synonym: "FH-I" EXACT [Orphanet:403] synonym: "FH1" EXACT ABBREVIATION [Orphanet:403] synonym: "glucocorticoid sensitive hypertension" RELATED [GARD:0002790] synonym: "glucocorticoid-remediable aldosteronism" EXACT [MONDO:Lexical, OMIM:103900, Orphanet:403] synonym: "glucocorticoid-sensitive hypertension" EXACT [Orphanet:403] synonym: "glucocorticoid-suppressible hyperaldosteronism" RELATED [OMIM:103900] synonym: "GRA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:103900, Orphanet:403] synonym: "HALD1" RELATED ABBREVIATION [OMIM:103900] synonym: "hyperaldosteronism, familial type 1" RELATED [GARD:0002790] synonym: "hyperaldosteronism, familial, type 1" RELATED [OMIM:103900] synonym: "hyperaldosteronism, familial, type I" RELATED [OMIM:103900] xref: DOID:14080 {source="MONDO:equivalentTo"} xref: ICD10CM:E26.02 {source="DOID:14080", source="MONDO:equivalentTo"} xref: ICD9:255.11 {source="DOID:14080"} xref: MESH:C563177 {source="DOID:14080", source="MONDO:equivalentTo"} xref: OMIM:103900 {source="DOID:14080", source="Orphanet:403", source="MONDO:equivalentTo", source="Orphanet:403/e"} xref: Orphanet:403 {source="MONDO:equivalentTo", source="OMIM:103900"} xref: UMLS:C1260386 {source="DOID:14080", source="Orphanet:403", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:103900"} xref: UMLS:C3838731 {source="MONDO:equivalentTo"} is_a: MONDO:0016525 {source="Orphanet:403"} ! familial hyperaldosteronism property_value: exactMatch DOID:14080 property_value: exactMatch http://identifiers.org/mesh/C563177 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1260386 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3838731 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E26.02 property_value: exactMatch https://omim.org/entry/103900 property_value: exactMatch Orphanet:403 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2790/glucocorticoid-remediable-aldosteronism xsd:anyURI {source="GARD:0002790"} [Term] id: MONDO:0007083 name: autosomal dominant palmoplantar keratoderma and congenital alopecia def: "Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications." [Orphanet:1010] subset: gard_rare {source="GARD:0000604"} subset: ordo_disease {source="Orphanet:1010"} synonym: "alopecia congenita with hyperkeratosis of the palms and soles" RELATED [GARD:0000604] synonym: "autosomal dominant palmoplantar hyperkeratosis and congenital alopecia" EXACT [Orphanet:1010] synonym: "keratoderma-hypotrichosis-leukonychia totalis syndrome" RELATED [OMIM:104100] synonym: "palmoplantar keratoderma and congenital alopecia 1" RELATED [MONDO:Lexical, OMIM:104100] synonym: "palmoplantar keratoderma and congenital alopecia type 1" EXACT [MONDORULE:1, OMIM:104100] synonym: "palmoplantar keratoderma and congenital alopecia, Stevanovic type" EXACT [Orphanet:1010] synonym: "palmoplantar keratoderma with congenital alopecia" EXACT [OMIM:104100, OMIM:genemap2] synonym: "PPK-CA, Stevanovic type" EXACT [Orphanet:1010] synonym: "Ppkca, Stevanovic type" RELATED [OMIM:104100] synonym: "PPKCA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:104100] xref: DOID:0111244 {source="MONDO:equivalentTo"} xref: OMIM:104100 {source="Orphanet:1010", source="MONDO:equivalentTo", source="Orphanet:1010/e"} xref: Orphanet:1010 {source="OMIM:104100", source="MONDO:equivalentTo"} xref: SCTID:719518004 {source="MONDO:equivalentTo"} is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma is_a: MONDO:0019287 {source="Orphanet:1010"} ! ectodermal dysplasia syndrome property_value: exactMatch DOID:0111244 property_value: exactMatch http://identifiers.org/snomedct/719518004 property_value: exactMatch https://omim.org/entry/104100 property_value: exactMatch Orphanet:1010 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/604/autosomal-dominant-palmoplantar-keratoderma-and-congenital-alopecia xsd:anyURI {source="GARD:0000604"} [Term] id: MONDO:0007085 name: alopecia-epilepsy-pyorrhea-intellectual disability syndrome def: "Alopecia-epilepsy-pyorrhea-intellectual disability syndrome is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant." [Orphanet:1008] subset: ordo_disease {source="Orphanet:1008"} synonym: "alopecia, epilepsy, pyorrhea, mental subnormality" RELATED [GARD:0000607] synonym: "alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality" RELATED [OMIM:104130] synonym: "congenital universal alopecia, epilepsy, mental subnormality and pyorrhea" RELATED [GARD:0000607] synonym: "Shokeir syndrome" EXACT [OMIM:104130, Orphanet:1008] xref: MESH:C537057 {source="MONDO:equivalentTo", source="Orphanet:1008", source="Orphanet:1008/e"} xref: OMIM:104130 {source="MONDO:equivalentTo", source="Orphanet:1008", source="Orphanet:1008/e"} xref: Orphanet:1008 {source="OMIM:104130", source="MONDO:equivalentTo"} xref: SCTID:720980004 {source="MONDO:equivalentTo"} xref: UMLS:C1863090 {source="OMIM:104130", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1008", source="Orphanet:1008/e"} is_a: MONDO:0021034 {source="Orphanet:1008"} ! hereditary alopecia property_value: exactMatch http://identifiers.org/mesh/C537057 property_value: exactMatch http://identifiers.org/snomedct/720980004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863090 property_value: exactMatch https://omim.org/entry/104130 property_value: exactMatch Orphanet:1008 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:1008"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0007086 name: autosomal dominant Alport syndrome def: "Autosomal dominant Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance.Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell." [https://rarediseases.info.nih.gov/diseases/624/autosomal-dominant-alport-syndrome] subset: gard_rare {source="GARD:0000624"} subset: ordo_etiological_subtype {source="Orphanet:88918"} synonym: "Alport syndrome 3, autosomal dominant" EXACT [OMIM:104200, OMIM:genemap2] synonym: "Alport syndrome dominant type" RELATED [GARD:0000624] synonym: "Alport syndrome, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:104200] synonym: "renal failure and sensorineural hearing loss" RELATED [GARD:0000624] xref: DOID:0110032 {source="MONDO:equivalentTo"} xref: OMIM:104200 {source="Orphanet:88918/e", source="MONDO:equivalentTo", source="DOID:0110032", source="Orphanet:88918"} xref: Orphanet:88918 {source="OMIM:104200", source="MONDO:equivalentTo", source="DOID:0110032"} xref: SCTID:717766000 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 {source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0018965 {source="DC-OMIM:104200", source="DOID:0110032", source="MONDO:Redundant", source="Orphanet:88918"} ! Alport syndrome property_value: exactMatch DOID:0110032 property_value: exactMatch http://identifiers.org/snomedct/717766000 property_value: exactMatch https://omim.org/entry/104200 property_value: exactMatch Orphanet:88918 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/624/autosomal-dominant-alport-syndrome xsd:anyURI {source="GARD:0000624"} [Term] id: MONDO:0007093 name: hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the DLX3 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_clinical_subtype {source="Orphanet:100034"} synonym: "AI4" EXACT ABBREVIATION [DOID:0110053, MONDO:Lexical, OMIM:104510] synonym: "AIHHT" EXACT ABBREVIATION [DOID:0110053] synonym: "amelogenesis imperfecta caused by mutation in DLX3" EXACT [MONDO:design_pattern] synonym: "amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism" EXACT [DOID:0110053] synonym: "amelogenesis imperfecta type 4" EXACT [Orphanet:100034] synonym: "amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism" RELATED [OMIM:104510] synonym: "amelogenesis imperfecta, type 4" RELATED [OMIM:104510] synonym: "amelogenesis imperfecta, type IV" RELATED [MONDO:Lexical, OMIM:104510] synonym: "DLX3 amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110053 {source="MONDO:equivalentTo"} xref: MESH:C566293 {source="MONDO:equivalentTo"} xref: OMIM:104510 {source="Orphanet:100034", source="MONDO:equivalentTo", source="DOID:0110053", source="Orphanet:100034/e"} xref: Orphanet:100034 {source="MONDO:equivalentTo", source="OMIM:104510"} xref: UMLS:C1863012 {source="Orphanet:100034", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:104510"} is_a: MONDO:0019507 {source="DC-OMIM:104510", source="DOID:0110053", source="MESH:C566293", source="MONDO:Redundant", source="OMIM:104510", source="Orphanet:100034"} ! amelogenesis imperfecta property_value: exactMatch DOID:0110053 property_value: exactMatch http://identifiers.org/mesh/C566293 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863012 property_value: exactMatch https://omim.org/entry/104510 property_value: exactMatch Orphanet:100034 [Term] id: MONDO:0007095 name: ameloonychohypohidrotic syndrome subset: gard_rare {source="GARD:0000647"} subset: ordo_malformation_syndrome {source="Orphanet:1028"} synonym: "amelo-onycho-hypohidrotic syndrome" RELATED [ISBN-13:978-88-470-0687-4] synonym: "ameloonychohypohidrotic syndrome" EXACT [OMIM:104570] synonym: "hypocalcified-hypoplastic enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis" RELATED [GARD:0000647] xref: MESH:C538245 {source="MONDO:equivalentTo", source="Orphanet:1028", source="Orphanet:1028/e"} xref: OMIM:104570 {source="MONDO:equivalentTo", source="Orphanet:1028", source="Orphanet:1028/e"} xref: Orphanet:1028 {source="OMIM:104570", source="MONDO:equivalentTo"} xref: SCTID:715404000 {source="MONDO:equivalentTo"} xref: UMLS:C1863006 {source="OMIM:104570", source="MONDO:equivalentTo", source="Orphanet:1028", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1028/e"} is_a: MONDO:0019287 {source="Orphanet:1028"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C538245 property_value: exactMatch http://identifiers.org/snomedct/715404000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863006 property_value: exactMatch https://omim.org/entry/104570 property_value: exactMatch Orphanet:1028 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/647/ameloonychohypohidrotic-syndrome xsd:anyURI {source="GARD:0000647"} [Term] id: MONDO:0007097 name: Finnish type amyloidosis subset: ordo_disease {source="Orphanet:85448"} synonym: "AGel amyloidosis" RELATED [Orphanet:85448] synonym: "amyloid cranial neuropathy with lattice corneal dystrophy" RELATED [OMIM:105120] synonym: "amyloidosis 5" RELATED [OMIM:105120] synonym: "amyloidosis due to mutant gelsolin" RELATED [OMIM:105120] synonym: "amyloidosis V" RELATED [GARD:0002339] synonym: "amyloidosis, Finnish type" RELATED [OMIM:105120] synonym: "amyloidosis, MERETOJA type" EXACT [DOID:0050637] synonym: "amyloidosis, Meretoja type" RELATED [OMIM:105120] synonym: "cerebral amyloid angiopathy, Gsn-related" RELATED [OMIM:105120] synonym: "corneal dystrophy, lattice type 2" RELATED [OMIM:105120] synonym: "familial amyloid polyneuropathy type IV" EXACT [Orphanet:85448] synonym: "familial amyloidosis, Finnish type" EXACT [Orphanet:85448] synonym: "gelsolin amyloidosis" EXACT [Orphanet:85448] synonym: "hereditary amyloidosis, Finnish type" EXACT [Orphanet:85448] synonym: "hereditary gelsolin amyloidosis" RELATED [GARD:0002339] synonym: "lattice corneal dystrophy type II Finnish" RELATED [GARD:0002339] synonym: "lattice corneal dystrophy, type 2" RELATED [OMIM:105120] synonym: "meretoja syndrome" EXACT [] synonym: "meretoja type amyloidosis" RELATED [] xref: DOID:0050637 {source="MONDO:equivalentTo"} xref: ICD9:277.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537459 {source="MONDO:equivalentTo"} xref: OMIM:105120 {source="MONDO:equivalentTo", source="Orphanet:85448", source="DOID:0050637", source="Orphanet:85448/e"} xref: Orphanet:85448 {source="OMIM:105120", source="MONDO:equivalentTo"} xref: SCTID:419398009 {source="MONDO:equivalentTo"} is_a: MONDO:0015923 ! acquired peripheral neuropathy is_a: MONDO:0018634 {source="Orphanet:85448"} ! hereditary amyloidosis is_a: MONDO:0020127 {source="MONDO:0016134-obsoleted"} ! hereditary peripheral neuropathy is_a: MONDO:0020215 {source="Orphanet:85448"} ! syndromic corneal dystrophy property_value: exactMatch DOID:0050637 property_value: exactMatch http://identifiers.org/mesh/C537459 property_value: exactMatch http://identifiers.org/snomedct/419398009 property_value: exactMatch https://omim.org/entry/105120 property_value: exactMatch Orphanet:85448 [Term] id: MONDO:0007098 name: ACys amyloidosis def: "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages." [Orphanet:100008] subset: ordo_clinical_subtype {source="Orphanet:100008"} synonym: "amyloidosis 6" RELATED [OMIM:105150] synonym: "amyloidosis VI" EXACT [DOID:0070027] synonym: "amyloidosis, Cerebroarterial, Icelandic type" EXACT [DOID:0070027] synonym: "cerebral amyloid angiopathy" BROAD [OMIM:105150, OMIM:genemap2] synonym: "cerebral amyloid angiopathy, CST3-related" RELATED [OMIM:105150] synonym: "cerebral hemorrhage, hereditary, with amyloidosis" EXACT [DOID:0070027, OMIM:105150] synonym: "CST3-related amyloidosis" EXACT [Orphanet:100008] synonym: "CST3-related cerebral amyloid angiopathy" RELATED [DOID:0070027] synonym: "cystatin amyloidosis" EXACT [Orphanet:100008] synonym: "HCHWA, Icelandic type" EXACT [Orphanet:100008] synonym: "hereditary cerebral haemorrhage with amyloidosis" EXACT OMO:0003005 [] synonym: "hereditary cerebral haemorrhage with amyloidosis, Icelandic type" EXACT OMO:0003005 [] synonym: "hereditary cerebral hemorrhage with amyloidosis" EXACT [DOID:0070027, OMIM:105150] synonym: "hereditary cerebral hemorrhage with amyloidosis, Icelandic type" EXACT [Orphanet:100008] synonym: "hereditary cystatin C amyloid angiopathy" EXACT [Orphanet:100008] xref: DOID:0070027 {source="MONDO:equivalentTo"} xref: ICD10EXP:E85.4+ {source="Orphanet:100008", source="Orphanet:100008/attributed", source="Orphanet:100008/ntbt"} xref: ICD10EXP:I68.0* {source="Orphanet:100008", source="Orphanet:100008/attributed", source="Orphanet:100008/ntbt"} xref: ICD9:277.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:437.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:105150 {source="DOID:0070027", source="MONDO:equivalentTo", source="Orphanet:100008", source="Orphanet:100008/e"} xref: Orphanet:100008 {source="MONDO:equivalentTo", source="OMIM:105150"} xref: SCTID:703220002 {source="MONDO:equivalentTo"} is_a: EFO:0006790 {source="DC-OMIM:105150", source="DOID:0070027", source="Orphanet:100008"} ! cerebral amyloid angiopathy property_value: exactMatch DOID:0070027 property_value: exactMatch http://identifiers.org/snomedct/703220002 property_value: exactMatch https://omim.org/entry/105150 property_value: exactMatch Orphanet:100008 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007099 name: familial visceral amyloidosis subset: gard_rare {source="GARD:0008282"} subset: ordo_disease {source="Orphanet:85450"} synonym: "amyloidosis 8" RELATED [OMIM:105200] synonym: "amyloidosis familial renal" RELATED [GARD:0008282] synonym: "amyloidosis familial visceral" RELATED [GARD:0008282] synonym: "amyloidosis systemic nonneuropathic" RELATED [GARD:0008282] synonym: "amyloidosis VIII" RELATED [GARD:0008282] synonym: "amyloidosis, 3 or more types" EXACT [OMIM:105200, OMIM:genemap2] synonym: "amyloidosis, familial renal" EXACT [DOID:0050636] synonym: "amyloidosis, familial visceral" RELATED [OMIM:105200] synonym: "amyloidosis, Ostertag type" EXACT [Orphanet:85450] synonym: "amyloidosis, renal" EXACT [OMIM:105200, OMIM:genemap2] synonym: "amyloidosis, systemic Nonneuropathic" RELATED [OMIM:105200] synonym: "familial amyloid nephropathy" EXACT [Orphanet:85450] synonym: "familial renal amyloidosis" EXACT [Orphanet:85450] synonym: "German type amyloidosis" EXACT [DOID:0050636, OMIM:105200] synonym: "hereditary amyloid nephropathy" EXACT [Orphanet:85450] synonym: "hereditary amyloidosis with primary renal involement" RELATED [GARD:0008282] synonym: "hereditary renal amyloidosis" EXACT [Orphanet:85450] synonym: "Ostertag type amyloidosis" EXACT [DOID:0050636, OMIM:105200] synonym: "systemic nonneuropathic amyloidosis" EXACT [DOID:0050636] xref: DOID:0050636 {source="MONDO:equivalentTo"} xref: ICD9:277.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538249 {source="MONDO:equivalentTo"} xref: OMIM:105200 {source="Orphanet:85450/e", source="MONDO:equivalentTo", source="DOID:0050636", source="Orphanet:85450"} xref: Orphanet:85450 {source="OMIM:105200", source="MONDO:equivalentTo"} xref: SCTID:66451004 {source="MONDO:equivalentTo"} xref: UMLS:C0268389 {source="OMIM:105200", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018634 {source="MESH:C538249", source="MONDO:Redundant", source="Orphanet:85450"} ! hereditary amyloidosis relationship: has_characteristic MONDO:0021136 {source="MONDO:0020030"} ! rare property_value: exactMatch DOID:0050636 property_value: exactMatch http://identifiers.org/mesh/C538249 property_value: exactMatch http://identifiers.org/snomedct/66451004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268389 property_value: exactMatch https://omim.org/entry/105200 property_value: exactMatch Orphanet:85450 property_value: excluded_subClassOf MONDO:0005240 {source="Orphanet:85450/inferred"} property_value: excluded_subClassOf MONDO:0019724 {source="Orphanet:85450"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8282/amyloidosis-familial-visceral xsd:anyURI {source="GARD:0008282"} [Term] id: MONDO:0007101 name: familial primary localized cutaneous amyloidosis subset: ordo_disease {source="Orphanet:353220"} synonym: "FPLCA" EXACT ABBREVIATION [Orphanet:353220] synonym: "hereditary primary cutaneous amyloidosis" EXACT [MONDO:patterns/hereditary] synonym: "primary localised cutaneous amyloidosis" RELATED OMO:0003005 [] synonym: "primary localized cutaneous amyloidosis" RELATED [GARD:0000132] xref: ICD10EXP:E85.4+ {source="Orphanet:353220", source="Orphanet:353220/attributed", source="Orphanet:353220/ntbt"} xref: ICD10EXP:L99.0* {source="Orphanet:353220", source="Orphanet:353220/attributed", source="Orphanet:353220/ntbt"} xref: MESH:C562643 {source="MONDO:equivalentTo"} xref: OMIMPS:105250 {source="MONDO:equivalentTo"} xref: Orphanet:353220 {source="MONDO:equivalentTo", source="OMIM:105250"} xref: UMLS:CN204529 {source="MONDO:equivalentTo"} is_a: MONDO:0015301 {source="DC-OMIM:105250", source="MONDO:Redundant", source="OMIM:105250", source="Orphanet:353220"} ! primary cutaneous amyloidosis is_a: MONDO:0018634 {source="MESH:C562643", source="MONDO:Redundant"} ! hereditary amyloidosis is_a: MONDO:0100118 ! hereditary skin disorder intersection_of: MONDO:0015301 ! primary cutaneous amyloidosis intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/mesh/C562643 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204529 property_value: exactMatch https://omim.org/phenotypicSeries/PS105250 property_value: exactMatch Orphanet:353220 [Term] id: MONDO:0007105 name: frontotemporal dementia and/or amyotrophic lateral sclerosis 1 def: "Any frontotemporal dementia with motor neuron disease in which the cause of the disease is a mutation in the C9orf72 gene." [MONDO:patterns/disease_series_by_gene] synonym: "ALSFTD" EXACT ABBREVIATION [DOID:0060213, OMIM:105550] synonym: "amyotrophic lateral sclerosis and/or frontotemporal dementia" EXACT [DOID:0060213, OMIM:105550] synonym: "C9ORF72 frontotemporal dementia with motor neuron disease" EXACT [MONDO:design_pattern] synonym: "C9orf72 frontotemporal dementia with motor neuron disease" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis" RELATED [OMIM:105550] synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis 1" EXACT [DOID:0060213, MONDO:Lexical, OMIM:105550] synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis type 1" EXACT [MONDORULE:1, OMIM:105550] synonym: "frontotemporal dementia and/or motor neuron disease" EXACT [DOID:0060213, OMIM:105550] synonym: "frontotemporal dementia with motor neuron disease caused by mutation in C9ORF72" EXACT [MONDO:design_pattern] synonym: "frontotemporal dementia with motor neuron disease caused by mutation in C9orf72" EXACT [] synonym: "FTDALS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:105550] synonym: "FTDMND" EXACT ABBREVIATION [DOID:0060213, OMIM:105550] xref: DOID:0060213 {source="MONDO:equivalentTo"} xref: NCIT:C168756 {source="MONDO:equivalentTo"} xref: OMIM:105550 {source="MONDO:equivalentTo"} xref: UMLS:C1862937 {source="OMIM:105550", source="MONDO:equivalentObsolete", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C3888102 {source="MONDO:equivalentTo"} is_a: EFO:0001356 {source="OMIM:105550"} ! familial amyotrophic lateral sclerosis is_a: MONDO:0017161 {source="MONDO:cjm", source="OMIM:105550", source="Orphanet:275872/btnt"} ! frontotemporal dementia with motor neuron disease is_a: MONDO:0030923 {source="OMIM:105550"} ! frontotemporal dementia and/or amyotrophic lateral sclerosis property_value: exactMatch DOID:0060213 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888102 property_value: exactMatch https://omim.org/entry/105550 property_value: exactMatch NCIT:C168756 [Term] id: MONDO:0007109 name: congenital dyserythropoietic anemia type 3 def: "Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia." [Orphanet:98870] subset: ordo_disease {source="Orphanet:98870"} synonym: "anaemia with multinucleated erythroblasts" RELATED OMO:0003005 [] synonym: "anemia with multinucleated erythroblasts" RELATED [OMIM:105600] synonym: "anemia, congenital dyserythropoietic, type III" RELATED [MONDO:Lexical, OMIM:105600] synonym: "CDA 3" RELATED [OMIM:105600] synonym: "CDA III" EXACT [Orphanet:98870] synonym: "CDA type 3" EXACT [Orphanet:98870] synonym: "CDA type III" EXACT [Orphanet:98870] synonym: "CDAN3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:105600] synonym: "congenital dyserythropoietic anemia type 3" EXACT [Orphanet:98870] synonym: "dyserythropoietic anemia, congenital type 3" RELATED [GARD:0002002] synonym: "dyserythropoietic Anemia, congenital, type 3" RELATED [OMIM:105600] synonym: "dyserythropoietic anemia, congenital, type III" EXACT [OMIM:105600, OMIM:genemap2] synonym: "Erythroreticulosis, hereditary benign" RELATED [OMIM:105600] xref: DOID:0111399 {source="MONDO:equivalentTo"} xref: ICD9:285.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:105600 {source="Orphanet:98870/e", source="MONDO:equivalentTo", source="Orphanet:98870"} xref: Orphanet:98870 {source="MONDO:equivalentTo", source="OMIM:105600"} xref: SCTID:26409005 {source="MONDO:equivalentTo"} xref: UMLS:C0271934 {source="Orphanet:98870/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:98870"} is_a: MONDO:0000577 ! congenital anemia is_a: MONDO:0019403 {source="DC-OMIM:105600", source="OMIM:105600", source="Orphanet:98870"} ! congenital dyserythropoietic anemia property_value: exactMatch DOID:0111399 property_value: exactMatch http://identifiers.org/snomedct/26409005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271934 property_value: exactMatch https://omim.org/entry/105600 property_value: exactMatch Orphanet:98870 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007112 name: interventricular septum aneurysm def: "Interventricular septum aneurysm is a rare, non-syndromic, congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated." [Orphanet:99092] subset: ordo_morphological_anomaly {source="Orphanet:99092"} synonym: "aneurysm of interventricular septum" RELATED [OMIM:105805] xref: MESH:C563239 {source="MONDO:equivalentTo"} xref: OMIM:105805 {source="Orphanet:99092", source="MONDO:equivalentTo", source="Orphanet:99092/e"} xref: Orphanet:99092 {source="MONDO:equivalentTo", source="OMIM:105805"} xref: UMLS:C1387721 {source="Orphanet:99092", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:105805"} is_a: MONDO:0018771 {source="Orphanet:99092"} ! congenital anomaly of ventricular septum property_value: exactMatch http://identifiers.org/mesh/C563239 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1387721 property_value: exactMatch https://omim.org/entry/105805 property_value: exactMatch Orphanet:99092 [Term] id: MONDO:0007113 name: Angelman syndrome def: "A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features." [https://orcid.org/0000-0001-5208-3432, Orphanet:72] subset: ordo_malformation_syndrome {source="Orphanet:72"} synonym: "Angelman syndrome" EXACT [MONDO:Lexical, OMIM:105830] synonym: "Angelman syndrome (Type 1)" NARROW [DECIPHER:4] synonym: "Angelman syndrome (Type 2)" NARROW [DECIPHER:54] synonym: "Angelman syndrome chromosome region" RELATED [OMIM:105830] synonym: "AS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:105830] synonym: "happy puppet syndrome" EXACT DEPRECATED [DOID:1932, OMIM:105830] synonym: "happy puppet syndrome (formerly)" RELATED DEPRECATED [GARD:0005810] synonym: "happy puppet syndrome, formerly" RELATED DEPRECATED [OMIM:105830] synonym: "puppetlike syndrome" EXACT DEPRECATED [DOID:1932] xref: DECIPHER:4 {source="MONDO:equivalentTo"} xref: DECIPHER:54 {source="MONDO:equivalentTo"} xref: DOID:1932 {source="MONDO:equivalentTo"} xref: ICD10CM:Q93.51 {source="MONDO:equivalentTo", source="https://www.angelmanbiomarkers.org/special-announcement-angelman-specific-icd-10-code-q93-51-is-finally-here/"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10049004 {source="Orphanet:72/e", source="Orphanet:72"} xref: MESH:C531619 {source="MONDO:equivalentTo"} xref: MESH:D017204 {source="Orphanet:72/e", source="MONDO:equivalentTo", source="DOID:1932", source="Orphanet:72"} xref: NCIT:C75462 {source="MONDO:equivalentTo", source="DOID:1932"} xref: OMIM:105830 {source="Orphanet:72/e", source="MONDO:equivalentTo", source="DOID:1932", source="Orphanet:72"} xref: Orphanet:72 {source="MONDO:equivalentTo", source="OMIM:105830"} xref: SCTID:76880004 {source="MONDO:equivalentTo", source="DOID:1932"} xref: UMLS:C0162635 {source="Orphanet:72/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:105830", source="NCIT:C75462", source="DOID:1932", source="Orphanet:72"} is_a: EFO:0000618 {source="MONDO:0020016-obsoleted"} ! nervous system disease is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75462"} ! syndromic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015955", source="MONDO:0015983"} ! rare property_value: closeMatch http://identifiers.org/meddra/10049004 property_value: exactMatch DOID:1932 property_value: exactMatch http://identifiers.org/mesh/C531619 property_value: exactMatch http://identifiers.org/mesh/D017204 property_value: exactMatch http://identifiers.org/snomedct/76880004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162635 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q93.51 property_value: exactMatch https://omim.org/entry/105830 property_value: exactMatch NCIT:C75462 property_value: exactMatch Orphanet:72 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:72"} property_value: excluded_subClassOf MONDO:0005027 {source="MONDO:0015652-obsoleted", source="MONDO:Redundant", source="MONDO:indirect"} property_value: excluded_subClassOf MONDO:0019040 {source="DOID:1932", source="MESH:C531619/inferred", source="MESH:D017204"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3941 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0007114 name: Angel-shaped phalango-epiphyseal dysplasia def: "A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age." [https://orcid.org/0000-0001-5208-3432, Orphanet:63442] subset: ordo_malformation_syndrome {source="Orphanet:63442"} synonym: "Angel shaped phalangoepiphyseal dysplasia" RELATED [GARD:0000671] synonym: "Angel-shaped phalangoepiphyseal dysplasia" RELATED [MONDO:Lexical, OMIM:105835] synonym: "ASPED" EXACT ABBREVIATION [MONDO:Lexical, OMIM:105835, Orphanet:63442] xref: MedDRA:10066017 {source="Orphanet:63442", source="Orphanet:63442/e"} xref: MESH:C536361 {source="MONDO:equivalentTo"} xref: OMIM:105835 {source="Orphanet:63442", source="MONDO:equivalentTo", source="Orphanet:63442/e"} xref: Orphanet:63442 {source="MONDO:equivalentTo", source="OMIM:105835"} xref: SCTID:720984008 {source="MONDO:equivalentTo"} is_a: MONDO:0019695 {source="Orphanet:63442", source="PMID:31633310"} ! acromelic dysplasia property_value: closeMatch http://identifiers.org/meddra/10066017 property_value: exactMatch http://identifiers.org/mesh/C536361 property_value: exactMatch http://identifiers.org/snomedct/720984008 property_value: exactMatch https://omim.org/entry/105835 property_value: exactMatch Orphanet:63442 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6332 xsd:anyURI [Term] id: MONDO:0007116 name: hereditary neurocutaneous angioma def: "Hereditary neurocutaneous angioma is characterized by the association of cerebral and cutaneous angiomatous lesions. It has been described in less than 10 families. Clinical manifestations of the cerebral lesions include epilepsy, cerebral hemorrhage, and focal neurological deficit. Transmission is autosomal dominant." [Orphanet:1062] subset: ordo_disease {source="Orphanet:1062"} synonym: "angioma hereditary neurocutaneous" RELATED [GARD:0000676] synonym: "angioma, hereditary neurocutaneous" RELATED [OMIM:106070] synonym: "hemangiomatosis, disseminated" RELATED [OMIM:106070] synonym: "hereditary neurocutaneous angioma" EXACT [GARD:0000676] synonym: "hereditary neurocutaneous malformation" RELATED [Orphanet:1062] synonym: "spinal arterial Venous malformations with cutaneous hemangiomas" RELATED [OMIM:106070] xref: OMIM:106070 {source="Orphanet:1062/e", source="MONDO:equivalentTo", source="Orphanet:1062"} xref: Orphanet:1062 {source="MONDO:equivalentTo", source="OMIM:106070"} is_a: MONDO:0015145 {source="Orphanet:1062"} ! neurovascular malformation is_a: MONDO:0019755 ! developmental defect during embryogenesis is_a: MONDO:0021248 ! nervous system neoplasm is_a: MONDO:0024296 {source="Orphanet:1062"} ! vascular neoplasm property_value: exactMatch https://omim.org/entry/106070 property_value: exactMatch Orphanet:1062 [Term] id: MONDO:0007119 name: isolated aniridia def: "Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris." [Orphanet:250923] subset: ordo_morphological_anomaly {source="Orphanet:250923"} subset: prototype_pattern synonym: "aniridia without systemic involvement" RELATED [https://www.ncbi.nlm.nih.gov/books/NBK1360/] synonym: "nonsyndromic aniridia" EXACT [MONDO:patterns/isolated] xref: OMIMPS:106210 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:250923 {source="OMIM:106210", source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0015217 {source="MONDO:Redundant", source="Orphanet:250923", source="Orphanet:250923/inferred"} ! non-syndromic developmental defect of the eye is_a: MONDO:0019172 {source="DC-OMIM:106210", source="MONDO:Redundant", source="Orphanet:250923"} ! aniridia intersection_of: MONDO:0019172 ! aniridia intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation property_value: exactMatch https://omim.org/phenotypicSeries/PS106210 property_value: exactMatch Orphanet:250923 [Term] id: MONDO:0007120 name: aniridia-absent patella syndrome def: "Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975." [Orphanet:1069] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1069"} synonym: "aniridia absent patella" RELATED [GARD:0000685] synonym: "aniridia and absent patella" RELATED [OMIM:106220] synonym: "familial syndrome of aniridia and absence of the patella" RELATED [GARD:0000685] xref: MESH:C566281 {source="MONDO:equivalentTo"} xref: OMIM:106220 {source="GARD:0000685", source="Orphanet:1069", source="MONDO:equivalentTo", source="Orphanet:1069/e"} xref: Orphanet:1069 {source="OMIM:106220", source="GARD:0000685", source="MONDO:equivalentTo"} xref: UMLS:C1862868 {source="OMIM:106220", source="GARD:0000685", source="Orphanet:1069", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0020148 {source="Orphanet:1069"} ! syndromic aniridia property_value: exactMatch http://identifiers.org/mesh/C566281 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862868 property_value: exactMatch https://omim.org/entry/106220 property_value: exactMatch Orphanet:1069 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/685/aniridia-absent-patella xsd:anyURI {source="GARD:0000685"} [Term] id: MONDO:0007123 name: ankyloblepharon filiforme adnatum-cleft palate syndrome subset: ordo_malformation_syndrome {source="Orphanet:1072"} synonym: "AFA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:106250] synonym: "ankyloblepharon filiforme adnatum" EXACT [Orphanet:1072] synonym: "ankyloblepharon filiforme adnatum and cleft palate" RELATED [MONDO:Lexical, OMIM:106250] synonym: "ankyloblepharon filiforme adnatum cleft palate" RELATED [GARD:0000696] synonym: "ankyloblepharon filiforme congenitum" RELATED [GARD:0000696] synonym: "congenital filiform fusion of the eyelids with cleft palate and/or cleft lip" RELATED [GARD:0000696] xref: MESH:C536373 {source="Orphanet:1072/e", source="MONDO:equivalentTo", source="Orphanet:1072"} xref: OMIM:106250 {source="Orphanet:1072/e", source="MONDO:equivalentTo", source="Orphanet:1072"} xref: Orphanet:1072 {source="MONDO:equivalentTo", source="OMIM:106250"} xref: SCTID:400952003 {source="MONDO:equivalentTo"} xref: UMLS:C1302999 {source="MONDO:equivalentTo", source="Orphanet:1072"} is_a: MONDO:0020156 {source="Orphanet:1072"} ! syndromic ankyloblepharon property_value: exactMatch http://identifiers.org/mesh/C536373 property_value: exactMatch http://identifiers.org/snomedct/400952003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1302999 property_value: exactMatch https://omim.org/entry/106250 property_value: exactMatch Orphanet:1072 [Term] id: MONDO:0007124 name: ankyloblepharon-ectodermal defects-cleft lip/palate syndrome def: "An ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." [https://orcid.org/0000-0001-5208-3432, Orphanet:1071] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1071"} synonym: "AEC syndrome" EXACT [DOID:0090119, OMIM:106260, Orphanet:1071] synonym: "Ankyloblepharon ectodermal defects cleft lip/palate" RELATED [GARD:0006571] synonym: "Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome" EXACT [DOID:0090119] synonym: "ankyloblepharon-ectodermal defects-cleft LIP/palate" RELATED [OMIM:106260] synonym: "cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects" RELATED [GARD:0004805] synonym: "Hay-Wells syndrome" EXACT [DOID:0090119, OMIM:106260, Orphanet:1071] synonym: "Rapp-Hodgkins syndrome" RELATED [https://rarediseases.info.nih.gov/diseases/5690/rapp-hodgkin-syndrome, MONDO:cjm] synonym: "Seres-Santamaria Arimany Muniz syndrome" RELATED [GARD:0004805] xref: DOID:0090119 {source="MONDO:equivalentTo"} xref: MESH:C535847 {source="MONDO:equivalentTo"} xref: OMIM:106260 {source="Orphanet:1071/e", source="MONDO:equivalentTo", source="Orphanet:1071", source="GARD:0004805", source="DOID:0090119"} xref: Orphanet:1071 {source="MONDO:equivalentTo", source="DOID:0090119", source="OMIM:106260"} xref: SCTID:55821006 {source="MONDO:equivalentTo"} is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation is_a: MONDO:0019287 {source="MESH:C535847", source="Orphanet:1071"} ! ectodermal dysplasia syndrome is_a: MONDO:0020156 {source="Orphanet:1071"} ! syndromic ankyloblepharon is_a: MONDO:0800090 {source="PMID:31633310"} ! ectrodactyly with and without other manifestations property_value: exactMatch DOID:0090119 property_value: exactMatch http://identifiers.org/mesh/C535847 property_value: exactMatch http://identifiers.org/snomedct/55821006 property_value: exactMatch https://omim.org/entry/106260 property_value: exactMatch Orphanet:1071 property_value: excluded_subClassOf MONDO:0015501 {source="Orphanet:1071"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6332 xsd:anyURI [Term] id: MONDO:0007131 name: anonychia with flexural pigmentation def: "Anonychia with flexural pigmentation is characterized by anonychia and skin abnormalities (hyper- and hypopigmentation in axillae and groins, dry palmar and plantar skin leading to sore and cracked soles). It has been described in a mother and her two children. The mode of transmission is autosomal dominant." [Orphanet:69125] subset: ordo_malformation_syndrome {source="Orphanet:69125"} synonym: "anonychia with flexural pigmentation" EXACT [OMIM:106750] xref: MESH:C566278 {source="MONDO:equivalentTo"} xref: OMIM:106750 {source="Orphanet:69125/e", source="MONDO:equivalentTo", source="Orphanet:69125"} xref: Orphanet:69125 {source="OMIM:106750", source="MONDO:equivalentTo"} xref: UMLS:C1862844 {source="OMIM:106750", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:69125"} is_a: MONDO:0019287 {source="Orphanet:69125"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C566278 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862844 property_value: exactMatch https://omim.org/entry/106750 property_value: exactMatch Orphanet:69125 [Term] id: MONDO:0007134 name: Cooks syndrome def: "Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized." [Orphanet:1487] subset: ordo_malformation_syndrome {source="Orphanet:1487"} synonym: "anonychia and absence/hypoplasia of distal phalanges" RELATED [GARD:0004083] synonym: "anonychia-onychodystrophy with hypoplasia or absence of distal phalanges" RELATED [OMIM:106995] synonym: "anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome" EXACT [Orphanet:1487] synonym: "Cooks syndrome" EXACT [OMIM:106995] synonym: "ODP" EXACT ABBREVIATION [Orphanet:1487] xref: MESH:C537766 {source="MONDO:equivalentTo"} xref: OMIM:106995 {source="Orphanet:1487", source="MONDO:equivalentTo", source="Orphanet:1487/e"} xref: Orphanet:1487 {source="OMIM:106995", source="MONDO:equivalentTo"} xref: SCTID:720747002 {source="MONDO:equivalentTo"} xref: UMLS:C1862841 {source="OMIM:106995", source="Orphanet:1487", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019054 {source="Orphanet:1487", source="https://orcid.org/0000-0001-5208-3432"} ! congenital limb malformation is_a: MONDO:0800093 {source="PMID:31633310"} ! dysostosis with brachydactyly without extraskeletal manifestations property_value: exactMatch http://identifiers.org/mesh/C537766 property_value: exactMatch http://identifiers.org/snomedct/720747002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862841 property_value: exactMatch https://omim.org/entry/106995 property_value: exactMatch Orphanet:1487 property_value: excluded_subClassOf MONDO:0019285 {source="Orphanet:1487"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0007142 name: Townes-Brocks syndrome def: "Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." [Orphanet:857] subset: gard_rare {source="GARD:0007784"} subset: ordo_malformation_syndrome {source="Orphanet:857"} subset: prototype_pattern synonym: "anus, imperforate, with hand, foot and ear anomalies" RELATED [GARD:0007784] synonym: "anus, imperforate, with hand, foot, and Ear anomalies" RELATED [OMIM:107480] synonym: "deafness, sensorineural, with imperforate anus and hypoplastic thumbs" RELATED [GARD:0007784] synonym: "deafness, sensorineural, with imperforate anus and thumb anomalies" RELATED [OMIM:107480] synonym: "imperforate anus with hand, foot and ear anomalies" EXACT [Orphanet:857] synonym: "rear syndrome" EXACT [Orphanet:857] synonym: "renal-Ear-anal-radial syndrome" RELATED [OMIM:107480] synonym: "renal-ear-anal-radial syndrome" EXACT [Orphanet:857] synonym: "sensorineural deafness with imperforate anus and hypoplastic thumbs" EXACT [Orphanet:857] synonym: "TBS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:107480, Orphanet:857] synonym: "TBS1" RELATED ABBREVIATION [OMIM:107480] synonym: "Townes syndrome" EXACT [Orphanet:857] synonym: "Townes-Brocks syndrome" EXACT [MONDO:Lexical, OMIM:107480] synonym: "Townes-Brocks syndrome 1" RELATED [OMIM:107480] synonym: "Townes-Brocks-branchiootorenal-like syndrome" RELATED [OMIM:107480] xref: DOID:0050887 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536974 {source="MONDO:equivalentTo", source="Orphanet:857", source="Orphanet:857/e"} xref: NCIT:C99085 {source="MONDO:equivalentTo"} xref: OMIMPS:107480 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:857 {source="MONDO:equivalentTo", source="OMIM:107480"} xref: SCTID:24750000 {source="MONDO:equivalentTo"} xref: UMLS:C0265246 {source="NCIT:C99085", source="MONDO:equivalentTo", source="Orphanet:857", source="OMIM:107480", source="Orphanet:857/e"} xref: UMLS:CN034849 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000426 {source="DOID:0050887", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0015161 {source="Orphanet:857"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015246 {source="Orphanet:857"} ! syndromic anorectal malformation is_a: MONDO:0015334 {source="Orphanet:857"} ! branchial arch or oral-acral syndrome is_a: MONDO:0018454 ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation property_value: exactMatch DOID:0050887 property_value: exactMatch http://identifiers.org/mesh/C536974 property_value: exactMatch http://identifiers.org/snomedct/24750000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265246 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN034849 property_value: exactMatch https://omim.org/phenotypicSeries/PS107480 property_value: exactMatch NCIT:C99085 property_value: exactMatch Orphanet:857 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7784/townes-brocks-syndrome xsd:anyURI {source="GARD:0007784"} [Term] id: MONDO:0007143 name: aortic arch anomaly-facial dysmorphism-intellectual disability syndrome def: "Aortic arch anomaly-peculiar facies-intellectual disability syndrome is a developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968." [Orphanet:1110] subset: ordo_malformation_syndrome {source="Orphanet:1110"} synonym: "aortic arch anomaly - peculiar facies - intellectual disability" RELATED [GARD:0000739] synonym: "aortic arch anomaly with peculiar facies and intellectual disability" RELATED [OMIM:107500] synonym: "aortic arch anomaly with peculiar facies and mental retardation" RELATED DEPRECATED [OMIM:107500] synonym: "aortic arch anomaly-peculiar facies-intellectual disability syndrome" RELATED [GARD:0000739] synonym: "familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism" RELATED [GARD:0000739] xref: MESH:C537785 {source="Orphanet:1110", source="MONDO:equivalentTo", source="Orphanet:1110/e"} xref: OMIM:107500 {source="Orphanet:1110", source="MONDO:equivalentTo", source="Orphanet:1110/e"} xref: Orphanet:1110 {source="OMIM:107500", source="MONDO:equivalentTo"} xref: UMLS:C1862682 {source="Orphanet:1110", source="OMIM:107500", source="MONDO:equivalentTo", source="Orphanet:1110/e", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015159 {source="Orphanet:1110"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C537785 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862682 property_value: exactMatch https://omim.org/entry/107500 property_value: exactMatch Orphanet:1110 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1110"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0007145 name: aplasia cutis congenita def: "Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies." [Orphanet:1114] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1114"} synonym: "ACC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:107600] synonym: "aplasia cutis congenita" EXACT [MONDO:ambiguous] synonym: "aplasia cutis congenita (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "aplasia cutis congenita nonsyndromic" RELATED [GARD:0005835] synonym: "aplasia cutis congenita recessive" EXACT [GARD:0000755] synonym: "aplasia cutis congenita, nonsyndromic" RELATED [MONDO:Lexical, OMIM:107600] synonym: "congenital defect of skull and scalp" RELATED [OMIM:107600] synonym: "scalp defect congenital" RELATED [GARD:0005835] synonym: "scalp defect, congenital" RELATED [OMIM:107600] xref: DOID:0080661 {source="MONDO:equivalentTo"} xref: HP:0001057 {source="MONDO:otherHierarchy"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C98822 {source="MONDO:equivalentTo"} xref: OMIM:107600 {source="Orphanet:1114", source="MONDO:equivalentTo", source="Orphanet:1114/e"} xref: Orphanet:1114 {source="OMIM:107600", source="MONDO:equivalentTo"} xref: SCTID:35484002 {source="MONDO:equivalentTo"} is_a: MONDO:0019294 {source="Orphanet:1114"} ! mixed dermis disorder property_value: exactMatch DOID:0080661 property_value: exactMatch http://identifiers.org/snomedct/35484002 property_value: exactMatch https://omim.org/entry/107600 property_value: exactMatch NCIT:C98822 property_value: exactMatch Orphanet:1114 property_value: IAO:0000589 "aplasia cutis congenita (disease)" xsd:string [Term] id: MONDO:0007152 name: arrhythmogenic right ventricular dysplasia 1 def: "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TGFB3 gene." [MONDO:patterns/disease_series_by_gene] synonym: "arrhythmogenic right ventricular cardiomyopathy 1" EXACT [DOID:0110070, OMIM:107970] synonym: "arrhythmogenic right ventricular cardiomyopathy caused by mutation in TGFB3" EXACT [MONDO:design_pattern] synonym: "arrhythmogenic right ventricular dysplasia type 1" EXACT [DOID:0110070, MONDORULE:1] synonym: "arrhythmogenic right ventricular dysplasia, familial, 1" RELATED [MONDO:Lexical, OMIM:107970] synonym: "arrhythmogenic right ventricular dysplasia, familial, type 1" EXACT [MONDORULE:1, OMIM:107970] synonym: "ARVC1" EXACT ABBREVIATION [DOID:0110070] synonym: "ARVD1" EXACT ABBREVIATION [DOID:0110070, MONDO:Lexical, OMIM:107970] synonym: "cardiomyopathy, right ventricular dilated" RELATED [OMIM:107970] synonym: "familial arrhythmogenic right ventricular dysplasia 1" EXACT [DOID:0110070] synonym: "TGFB3 arrhythmogenic right ventricular cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Uhl anomaly" RELATED [OMIM:107970] xref: DOID:0110070 {source="MONDO:equivalentTo"} xref: OMIM:107970 {source="DOID:0110070", source="MONDO:equivalentTo"} xref: Orphanet:3403 {source="OMIM:107970", source="MONDO:relatedTo"} xref: UMLS:C1862511 {source="OMIM:107970", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0016342 {source="DOID:0110070", source="MONDO:Redundant", source="OMIM:107970"} ! familial isolated arrhythmogenic right ventricular dysplasia property_value: exactMatch DOID:0110070 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862511 property_value: exactMatch https://omim.org/entry/107970 property_value: excluded_subClassOf MONDO:0017401 property_value: excluded_subClassOf MONDO:0017402 property_value: excluded_subClassOf MONDO:0017403 [Term] id: MONDO:0007154 name: arteriovenous malformations of the brain def: "Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal seizures, focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures." [Orphanet:46724] subset: ordo_morphological_anomaly {source="Orphanet:46724"} synonym: "arteriovenous malformation of the brain, somatic" EXACT [OMIM:108010, OMIM:genemap2] synonym: "arteriovenous malformations of the brain" EXACT [OMIM:108010] synonym: "Bavm" RELATED [OMIM:108010] synonym: "cerebral arteriovenous malformation" EXACT [DOID:0060688] synonym: "cerebral arteriovenous malformations" RELATED [OMIM:108010] synonym: "intracranial arteriovenous malformation" EXACT [DOID:0060688, Orphanet:46724] synonym: "intracranial AVM" RELATED [GARD:0003020] synonym: "intracranial haemorrhage in brain arteriovenous malformations, susceptibility to" RELATED OMO:0003005 [] synonym: "intracranial haemorrhage in brain cerebrovascular malformations, susceptibility to, somatic mutation" EXACT OMO:0003005 [] synonym: "intracranial hemorrhage in brain arteriovenous malformations, susceptibility to" RELATED [OMIM:108010] synonym: "intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to, somatic mutation" EXACT [OMIM:108010, OMIM:genemap2] xref: DOID:0060688 {source="MONDO:equivalentTo"} xref: MESH:D002538 {source="Orphanet:46724", source="DOID:0060688", source="MONDO:equivalentTo", source="Orphanet:46724/e"} xref: NCIT:C2936 {source="MONDO:equivalentTo"} xref: OMIM:108010 {source="Orphanet:46724", source="DOID:0060688", source="MONDO:equivalentTo", source="Orphanet:46724/e"} xref: Orphanet:46724 {source="DOID:0060688", source="MONDO:equivalentTo", source="OMIM:108010"} xref: SCTID:234142008 {source="MONDO:equivalentTo"} xref: UMLS:C0007772 {source="Orphanet:46724", source="NCIT:C2936", source="DOID:0060688", source="MONDO:equivalentTo", source="Orphanet:46724/e"} is_a: MONDO:0000648 ! nervous system benign neoplasm is_a: MONDO:0001256 {source="DOID:0060688", source="MESH:D002538", source="MONDO:Redundant", source="NCIT:C2936", source="Orphanet:46724"} ! arteriovenous hemangioma/malformation is_a: MONDO:0015145 {source="Orphanet:46724"} ! neurovascular malformation is_a: MONDO:0016229 {source="MONDO:Entailed", source="Orphanet:46724", source="Orphanet:46724/inferred"} ! hereditary vascular anomaly is_a: MONDO:0043218 ! neurovascular disorder property_value: exactMatch DOID:0060688 property_value: exactMatch http://identifiers.org/mesh/D002538 property_value: exactMatch http://identifiers.org/snomedct/234142008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007772 property_value: exactMatch https://omim.org/entry/108010 property_value: exactMatch NCIT:C2936 property_value: exactMatch Orphanet:46724 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007158 name: arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome def: "Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal." [Orphanet:1154] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1154"} synonym: "Arthogryposis with oculomotor limitation and electroretinal abnormalities" RELATED [GARD:0004047] synonym: "arthrogryposis ophthalmoplegia retinopathy" RELATED [GARD:0004047] synonym: "arthrogryposis with oculomotor limitation and electroretinal abnormalities" RELATED [GARD:0004047, OMIM:108145] synonym: "arthrogryposis, distal, type 2B" RELATED [OMIM:108145] synonym: "arthrogryposis, distal, type 5" RELATED [MONDO:Lexical, OMIM:108145] synonym: "arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome" EXACT [GARD:0004047] synonym: "arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome" RELATED [Orphanet:1154] synonym: "DA5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:108145] synonym: "distal arthrogryposis type 5" EXACT [Orphanet:1154] synonym: "distal arthrogryposis type IIB" EXACT [Orphanet:1154] synonym: "distal arthrogryposis with ophthalmoplegia" EXACT [GARD:0004047, Orphanet:1154] synonym: "oculomelic amyoplasia" EXACT [GARD:0004047, OMIM:108145, Orphanet:1154] xref: DOID:0111608 {source="MONDO:equivalentTo"} xref: OMIM:108145 {source="Orphanet:1154", source="GARD:0004047", source="MONDO:equivalentTo", source="Orphanet:1154/e"} xref: Orphanet:1154 {source="GARD:0004047", source="OMIM:108145", source="MONDO:equivalentTo"} xref: SCTID:715217004 {source="MONDO:equivalentTo"} xref: UMLS:C1862472 {source="Orphanet:1154", source="GARD:0004047", source="OMIM:108145", source="MONDO:equivalentTo", source="Orphanet:1154/e", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019942 {source="DC-OMIM:108145", source="Orphanet:1154"} ! distal arthrogryposis property_value: exactMatch DOID:0111608 property_value: exactMatch http://identifiers.org/snomedct/715217004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862472 property_value: exactMatch https://omim.org/entry/108145 property_value: exactMatch Orphanet:1154 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4047/distal-arthrogryposis-type-5 xsd:anyURI {source="GARD:0004047"} [Term] id: MONDO:0007159 name: arthrogryposis-like hand anomaly-sensorineural deafness syndrome def: "Arthrogryposis-like hand anomaly-sensorineural deafness syndrome is characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed." [Orphanet:1144] subset: ordo_malformation_syndrome {source="Orphanet:1144"} synonym: "arthrogryposis and sensorineural deafness" RELATED [OMIM:108200] synonym: "arthrogryposis, distal, type 6" RELATED [MONDO:Lexical, OMIM:108200] synonym: "arthrogryposis-like hand anomaly and sensorineural deafness" RELATED [GARD:0000784] synonym: "DA6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:108200] synonym: "distal arthrogryposis type 6" EXACT [Orphanet:1144] synonym: "familial hand abnormality and sensori-neural deafness" RELATED [GARD:0000784] xref: DOID:0111609 {source="MONDO:equivalentTo"} xref: MESH:C535386 {source="Orphanet:1144", source="MONDO:equivalentTo", source="Orphanet:1144/e"} xref: OMIM:108200 {source="Orphanet:1144", source="MONDO:equivalentTo", source="Orphanet:1144/e"} xref: Orphanet:1144 {source="OMIM:108200", source="MONDO:equivalentTo"} xref: SCTID:720515009 {source="MONDO:equivalentTo"} xref: UMLS:C1862471 {source="OMIM:108200", source="Orphanet:1144", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1144/e"} is_a: MONDO:0019942 {source="DC-OMIM:108200", source="Orphanet:1144"} ! distal arthrogryposis property_value: exactMatch DOID:0111609 property_value: exactMatch http://identifiers.org/mesh/C535386 property_value: exactMatch http://identifiers.org/snomedct/720515009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862471 property_value: exactMatch https://omim.org/entry/108200 property_value: exactMatch Orphanet:1144 [Term] id: MONDO:0007160 name: Stickler syndrome type 1 subset: ordo_clinical_subtype {source="Orphanet:90653"} synonym: "arthroophthalmopathy, hereditary progressive" RELATED [OMIM:108300] synonym: "Stickler syndrome type 1" EXACT [] synonym: "Stickler syndrome, membranous vitreous type" RELATED [OMIM:108300] synonym: "Stickler syndrome, type 1" RELATED [OMIM:108300] synonym: "Stickler syndrome, type I" RELATED [MONDO:Lexical, OMIM:108300] synonym: "Stickler syndrome, vitreous type 1" RELATED [OMIM:108300] synonym: "STL1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:108300] xref: DOID:0080676 {source="MONDO:equivalentTo"} xref: MESH:C537492 {source="MONDO:equivalentTo", source="Orphanet:90653", source="Orphanet:90653/e"} xref: NCIT:C168733 {source="MONDO:equivalentTo"} xref: OMIM:108300 {source="MONDO:equivalentTo", source="Orphanet:90653", source="Orphanet:90653/e"} xref: Orphanet:90653 {source="OMIM:108300", source="MONDO:equivalentTo"} is_a: MONDO:0019354 {source="DC-OMIM:108300", source="OMIM:108300", source="Orphanet:90653"} ! Stickler syndrome is_a: MONDO:0022800 {source="Orphanet:90653", source="PMID:31633310"} ! type 2 collagenopathy property_value: exactMatch DOID:0080676 property_value: exactMatch http://identifiers.org/mesh/C537492 property_value: exactMatch https://omim.org/entry/108300 property_value: exactMatch NCIT:C168733 property_value: exactMatch Orphanet:90653 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0007163 name: episodic ataxia type 2 def: "Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia." [Orphanet:97] subset: ordo_disease {source="Orphanet:97"} synonym: "Acetazolamide-responsive episodic ataxia syndrome" RELATED [GARD:0009602] synonym: "Acetazolamide-responsive hereditary paroxysmal cerebellar ataxia" RELATED [OMIM:108500] synonym: "Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia" RELATED [GARD:0009602] synonym: "APCA" RELATED ABBREVIATION [GARD:0009602] synonym: "ataxia, episodic, with Nystagmus" RELATED [OMIM:108500] synonym: "ataxia, familial paroxysmal" RELATED [OMIM:108500] synonym: "ataxia, familial, paroxysmal" RELATED [GARD:0009602] synonym: "CACNA1A hereditary episodic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CAPA" RELATED ABBREVIATION [GARD:0009602] synonym: "cerebellar ataxia, paroxysmal, Acetazolamide-responsive" RELATED [OMIM:108500] synonym: "Cerebellopathy, hereditary paroxysmal" RELATED [OMIM:108500] synonym: "EA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:108500] synonym: "episodic ataxia type 2" EXACT [Orphanet:97] synonym: "episodic ataxia with nystagmus" RELATED [GARD:0009602] synonym: "episodic ataxia, Nystagmus-associated" RELATED [OMIM:108500] synonym: "episodic ataxia, type 2" RELATED [MONDO:Lexical, OMIM:108500] synonym: "familial paroxysmal ataxia" RELATED [Orphanet:97] synonym: "hereditary episodic ataxia caused by mutation in CACNA1A" EXACT [MONDO:design_pattern] synonym: "Nystagmus-associated episodic ataxia" RELATED [GARD:0009602] xref: DOID:0050990 {source="MONDO:equivalentTo"} xref: MESH:C535506 {source="MONDO:equivalentTo"} xref: OMIM:108500 {source="DOID:0050990", source="Orphanet:97", source="MONDO:equivalentTo", source="Orphanet:97/e"} xref: Orphanet:97 {source="OMIM:108500", source="MONDO:equivalentTo"} xref: SCTID:420932006 {source="MONDO:equivalentTo"} xref: UMLS:C1720416 {source="Orphanet:97", source="OMIM:108500", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:97/e"} is_a: MONDO:0016227 {source="DOID:0050990", source="MONDO:Redundant", source="OMIM:108500", source="Orphanet:97"} ! hereditary episodic ataxia is_a: MONDO:0100254 {source="https://clinicalgenome.org/affiliation/40006/"} ! CACNA1A-related complex neurodevelopmental disorder is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch DOID:0050990 property_value: exactMatch http://identifiers.org/mesh/C535506 property_value: exactMatch http://identifiers.org/snomedct/420932006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1720416 property_value: exactMatch https://omim.org/entry/108500 property_value: exactMatch Orphanet:97 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5753 xsd:anyURI [Term] id: MONDO:0007164 name: spastic ataxia 1 def: "Any autosomal dominant spastic ataxia in which the cause of the disease is a mutation in the VAMP1 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:251282"} synonym: "autosomal dominant spastic ataxia caused by mutation in VAMP1" EXACT [MONDO:design_pattern] synonym: "autosomal dominant spastic ataxia type 1" RELATED [Orphanet:251282] synonym: "spastic ataxia 1, autosomal dominant" RELATED [MONDO:Lexical, OMIM:108600] synonym: "spastic ataxia type 1" EXACT [DOID:0050772, MONDORULE:1] synonym: "SPAX1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:108600, Orphanet:251282] synonym: "VAMP1 autosomal dominant spastic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0050772 {source="MONDO:equivalentTo"} xref: ICD10CM:G11.4 {source="Orphanet:251282", source="MONDO:relatedTo", source="Orphanet:251282/attributed", source="Orphanet:251282/ntbt"} xref: MESH:C566993 {source="MONDO:equivalentTo"} xref: OMIM:108600 {source="Orphanet:251282", source="DOID:0050772", source="MONDO:equivalentTo", source="Orphanet:251282/e"} xref: Orphanet:251282 {source="OMIM:108600", source="MONDO:equivalentTo"} xref: UMLS:C1970107 {source="Orphanet:251282", source="OMIM:108600", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0017846 {source="MONDO:Redundant", source="Orphanet:251282"} ! autosomal dominant spastic ataxia property_value: exactMatch DOID:0050772 property_value: exactMatch http://identifiers.org/mesh/C566993 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970107 property_value: exactMatch https://omim.org/entry/108600 property_value: exactMatch Orphanet:251282 [Term] id: MONDO:0007165 name: spastic ataxia 7 def: "Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present." [Orphanet:1182] subset: ordo_disease {source="Orphanet:1182"} synonym: "autosomal dominant spastic ataxia type 7" EXACT [Orphanet:1182] synonym: "miosis, congenital, with spastic ataxia" RELATED [OMIM:108650] synonym: "spastic ataxia 7, autosomal dominant" RELATED [MONDO:Lexical, OMIM:108650] synonym: "spastic ataxia type 7" EXACT [DOID:0050945, MONDORULE:1] synonym: "spastic ataxia with congenital miosis" RELATED [OMIM:108650] synonym: "SPAX7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:108650, Orphanet:1182] xref: DOID:0050945 {source="MONDO:equivalentTo"} xref: ICD10CM:G11.4 {source="MONDO:relatedTo", source="Orphanet:1182/attributed", source="Orphanet:1182/ntbt", source="Orphanet:1182"} xref: MESH:C566247 {source="MONDO:equivalentTo"} xref: OMIM:108650 {source="Orphanet:1182/e", source="MONDO:equivalentTo", source="DOID:0050945", source="Orphanet:1182"} xref: Orphanet:1182 {source="MONDO:equivalentTo", source="OMIM:108650"} xref: SCTID:763669001 {source="MONDO:equivalentTo"} xref: UMLS:C1862441 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1182", source="OMIM:108650"} is_a: MONDO:0017846 {source="Orphanet:1182"} ! autosomal dominant spastic ataxia property_value: exactMatch DOID:0050945 property_value: exactMatch http://identifiers.org/mesh/C566247 property_value: exactMatch http://identifiers.org/snomedct/763669001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862441 property_value: exactMatch https://omim.org/entry/108650 property_value: exactMatch Orphanet:1182 [Term] id: MONDO:0007167 name: atelosteogenesis type I def: "Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." [Orphanet:1190] subset: ordo_malformation_syndrome {source="Orphanet:1190"} synonym: "AO1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:108720, Orphanet:1190] synonym: "AOI" EXACT ABBREVIATION [OMIM:108720, Orphanet:1190] synonym: "atelosteogenesis type 1" EXACT [Orphanet:1190] synonym: "atelosteogenesis, type 1" RELATED [OMIM:108720] synonym: "atelosteogenesis, type I" RELATED [MONDO:Lexical, OMIM:108720] synonym: "giant cell chondrodysplasia" EXACT [OMIM:108720, Orphanet:1190] synonym: "spondylo-humero-femoral dysplasia" EXACT [Orphanet:1190] synonym: "spondylohumerofemoral hypoplasia" RELATED [OMIM:108720] xref: MESH:C535396 {source="MONDO:equivalentTo", source="Orphanet:1190", source="Orphanet:1190/e"} xref: OMIM:108720 {source="MONDO:equivalentTo", source="Orphanet:1190", source="Orphanet:1190/e"} xref: Orphanet:1190 {source="OMIM:108720", source="MONDO:equivalentTo"} xref: SCTID:725141006 {source="MONDO:equivalentTo"} is_a: MONDO:0000389 {source="DC-OMIM:108720", source="OMIM:108720"} ! atelosteogenesis is_a: MONDO:0018187 ! hereditary syndromic Pierre Robin syndrome is_a: MONDO:0018751 ! hereditary otorhinolaryngologic disease is_a: MONDO:0019690 {source="Orphanet:1190", source="PMID:31633310"} ! filamin-related bone disorder property_value: exactMatch http://identifiers.org/mesh/C535396 property_value: exactMatch http://identifiers.org/snomedct/725141006 property_value: exactMatch https://omim.org/entry/108720 property_value: exactMatch Orphanet:1190 property_value: excluded_subClassOf MONDO:0019700 {source="Orphanet:1190"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0007168 name: atelosteogenesis type III def: "A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." [https://orcid.org/0000-0001-5208-3432, Orphanet:56305] subset: ordo_malformation_syndrome {source="Orphanet:56305"} synonym: "AO3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:108721, Orphanet:56305] synonym: "AOIII" EXACT ABBREVIATION [Orphanet:56305] synonym: "Aoiii" RELATED [OMIM:108721] synonym: "atelosteogenesis type 3" EXACT [Orphanet:56305] synonym: "atelosteogenesis, type 3" RELATED [OMIM:108721] synonym: "atelosteogenesis, type III" RELATED [MONDO:Lexical, OMIM:108721] xref: MESH:C579928 {source="MONDO:equivalentTo"} xref: OMIM:108721 {source="Orphanet:56305", source="MONDO:equivalentTo", source="Orphanet:56305/e"} xref: Orphanet:56305 {source="OMIM:108721", source="MONDO:equivalentTo"} xref: SCTID:725142004 {source="MONDO:equivalentTo"} is_a: MONDO:0000389 {source="DC-OMIM:108721", source="OMIM:108721"} ! atelosteogenesis is_a: MONDO:0018187 ! hereditary syndromic Pierre Robin syndrome is_a: MONDO:0018751 ! hereditary otorhinolaryngologic disease is_a: MONDO:0019690 {source="Orphanet:56305", source="PMID:31633310"} ! filamin-related bone disorder property_value: exactMatch http://identifiers.org/mesh/C579928 property_value: exactMatch http://identifiers.org/snomedct/725142004 property_value: exactMatch https://omim.org/entry/108721 property_value: exactMatch Orphanet:56305 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:56305"} property_value: excluded_subClassOf MONDO:0015159 {source="Orphanet:56305"} property_value: excluded_subClassOf MONDO:0019700 {source="Orphanet:56305"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0007172 name: atrial septal defect 1 def: "An atrial heart septal defect type 1 associated with variation in the region 5p." [DOID:0110106, PMID:9610535] synonym: "ASD 1" RELATED [OMIM:108800] synonym: "ASD 2" RELATED [OMIM:108800] synonym: "ASD1" EXACT ABBREVIATION [DOID:0110106, MONDO:Lexical, OMIM:108800] synonym: "atrial heart septal defect type 1" EXACT [DOID:0110106, MONDORULE:1] synonym: "atrial septal defect 1" EXACT [DOID:0110106, MONDO:Lexical, OMIM:108800] synonym: "atrial septal defect, primum type" RELATED [OMIM:108800] synonym: "atrial septal defect, secundum type" RELATED [OMIM:108800] xref: DOID:0110106 {source="MONDO:equivalentTo"} xref: OMIM:108800 {source="DOID:0110106", source="MONDO:equivalentTo"} xref: UMLS:C1862389 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:108800"} is_a: EFO:1000825 {source="DC-OMIM:108800", source="DOID:0110106", source="OMIM:108800"} ! atrial heart septal defect property_value: exactMatch DOID:0110106 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862389 property_value: exactMatch https://omim.org/entry/108800 [Term] id: MONDO:0007173 name: atrial septal defect 7 def: "Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block." [Orphanet:1479] subset: ordo_malformation_syndrome {source="Orphanet:1479"} synonym: "ASD with or without atrioventricular conduction defects" EXACT [DOID:0110112, OMIM:108900] synonym: "ASD7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:108900] synonym: "atrial heart septal defect caused by mutation in NKX2-5" EXACT [MONDO:design_pattern] synonym: "atrial heart septal defect type 7" EXACT [DOID:0110112, MONDORULE:1] synonym: "atrial septal defect 7 with or without atrioventricular conduction defects" RELATED [MONDO:Lexical, OMIM:108900] synonym: "atrial septal defect 7, with or without AV conduction defects" EXACT [DOID:0110112] synonym: "atrial septal defect-atrioventricular conduction defects syndrome" EXACT [DOID:0110112] synonym: "NKX2-5 atrial heart septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110112 {source="MONDO:equivalentTo"} xref: OMIM:108900 {source="MONDO:equivalentTo", source="Orphanet:1479", source="DOID:0110112", source="Orphanet:1479/e"} xref: Orphanet:1479 {source="MONDO:equivalentTo", source="OMIM:108900", source="DOID:0110112"} xref: UMLS:C3502353 {source="MONDO:equivalentTo", source="Orphanet:1479"} is_a: EFO:1000825 {source="DC-OMIM:108900", source="DOID:0110112", source="MONDO:Redundant", source="OMIM:108900", source="OMIM:108900/inferred"} ! atrial heart septal defect property_value: exactMatch DOID:0110112 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3502353 property_value: exactMatch https://omim.org/entry/108900 property_value: exactMatch Orphanet:1479 [Term] id: MONDO:0007174 name: Lown-Ganong-Levine syndrome def: "Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia)." [Orphanet:844] subset: ordo_disease {source="Orphanet:844"} synonym: "atrial tachyarrhythmia with short PR interval" EXACT [DOID:13087, OMIM:108950, Orphanet:844] synonym: "LGL syndrome" EXACT [Orphanet:844] synonym: "Lown-Ganong-Levine syndrome" EXACT [Orphanet:844] synonym: "syndrome of short P-R interval, normal QRS complexes, and supraventricular tachycardias" EXACT [DOID:13087] xref: DOID:13087 {source="MONDO:equivalentTo"} xref: ICD9:426.81 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13087"} xref: MedDRA:10024984 {source="Orphanet:844", source="Orphanet:844/e"} xref: MESH:D008151 {source="MONDO:equivalentTo", source="DOID:13087"} xref: OMIM:108950 {source="Orphanet:844", source="MONDO:equivalentTo", source="Orphanet:844/e"} xref: Orphanet:844 {source="OMIM:108950", source="MONDO:equivalentTo", source="DOID:13087"} xref: SCTID:55475008 {source="MONDO:equivalentTo", source="DOID:13087"} xref: UMLS:C0024054 {source="Orphanet:844", source="MONDO:equivalentTo", source="DOID:13087", source="Orphanet:844/e"} xref: UMLS:C1862387 {source="OMIM:108950", source="Orphanet:844", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0002254 {source="DOID:13087"} ! syndromic disease property_value: closeMatch http://identifiers.org/meddra/10024984 property_value: exactMatch DOID:13087 property_value: exactMatch http://identifiers.org/mesh/D008151 property_value: exactMatch http://identifiers.org/snomedct/55475008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024054 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862387 property_value: exactMatch https://omim.org/entry/108950 property_value: exactMatch Orphanet:844 [Term] id: MONDO:0007176 name: helicoid peripapillary chorioretinal degeneration def: "Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease." [Orphanet:86813] subset: ordo_disease {source="Orphanet:86813"} synonym: "atrophia areata" EXACT [OMIM:108985, Orphanet:86813] synonym: "helicoidal peripapillary chorioretinal Degeneration" RELATED [OMIM:108985] synonym: "peripapillary chorioretinal Degeneration, Icelandic type" RELATED [OMIM:108985] synonym: "SCRA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:108985, Orphanet:86813] synonym: "SVEINSSON chorioretinal atrophy" RELATED [MONDO:Lexical, OMIM:108985] synonym: "Sveinsson chorioretinal atrophy" EXACT [Orphanet:86813] xref: DOID:0111228 {source="MONDO:equivalentTo"} xref: MESH:C566236 {source="MONDO:equivalentTo"} xref: OMIM:108985 {source="MONDO:equivalentTo", source="Orphanet:86813", source="Orphanet:86813/e"} xref: Orphanet:86813 {source="OMIM:108985", source="MONDO:equivalentTo"} xref: SCTID:724384008 {source="MONDO:equivalentTo"} xref: UMLS:C1862382 {source="OMIM:108985", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:86813"} is_a: MONDO:0019118 {source="Orphanet:86813"} ! inherited retinal dystrophy property_value: exactMatch DOID:0111228 property_value: exactMatch http://identifiers.org/mesh/C566236 property_value: exactMatch http://identifiers.org/snomedct/724384008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862382 property_value: exactMatch https://omim.org/entry/108985 property_value: exactMatch Orphanet:86813 [Term] id: MONDO:0007177 name: auriculoosteodysplasia def: "Auriculoosteodysplasia is a very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature." [Orphanet:114] subset: gard_rare {source="GARD:0008663"} subset: ordo_malformation_syndrome {source="Orphanet:114"} synonym: "auriculo-osteodysplasia" RELATED [GARD:0008663] synonym: "auriculoosteodysplasia" EXACT [OMIM:109000] synonym: "multiple osseous dysplasia, characteristic ear shape, and short stature" RELATED [GARD:0008663] xref: MESH:C538271 {source="Orphanet:114", source="MONDO:equivalentTo", source="Orphanet:114/e"} xref: OMIM:109000 {source="Orphanet:114", source="MONDO:equivalentTo", source="Orphanet:114/e"} xref: Orphanet:114 {source="MONDO:equivalentTo", source="OMIM:109000"} xref: UMLS:C1862381 {source="Orphanet:114", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:114/e", source="OMIM:109000"} is_a: EFO:0009676 {source="GARD:0008663"} ! musculoskeletal system disease property_value: exactMatch http://identifiers.org/mesh/C538271 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862381 property_value: exactMatch https://omim.org/entry/109000 property_value: exactMatch Orphanet:114 property_value: excluded_subClassOf MONDO:0019700 {source="Orphanet:114"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8663/auriculoosteodysplasia xsd:anyURI {source="GARD:0008663"} [Term] id: MONDO:0007182 name: Machado-Joseph disease def: "Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." [Orphanet:98757] subset: ordo_disease {source="Orphanet:98757"} synonym: "autosomal dominant striatonigral degeneration" EXACT [Orphanet:98757] synonym: "Azorean disease" EXACT [DOID:1440] synonym: "Azorean disease of the nervous system" EXACT [Orphanet:98757] synonym: "Azorean neurologic disease" RELATED [OMIM:109150] synonym: "Machado disease" EXACT [Orphanet:98757] synonym: "Machado-Joseph disease" EXACT [MONDO:Lexical, OMIM:109150, Orphanet:98757] synonym: "MJD" EXACT ABBREVIATION [DOID:1440, MONDO:Lexical, OMIM:109150, Orphanet:98757] synonym: "Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia" EXACT [Orphanet:98757] synonym: "Nigrospinodentatal Degeneration" RELATED [OMIM:109150] synonym: "SCA3" EXACT ABBREVIATION [Orphanet:98757] synonym: "spinocerebellar ataxia 3" EXACT [DOID:1440, OMIM:109150] synonym: "spinocerebellar ataxia type 3" EXACT [DOID:1440] synonym: "spinocerebellar atrophy 3" RELATED [OMIM:109150] synonym: "spinocerebellar atrophy type 3" RELATED [GARD:0006801] synonym: "Spinopontine atrophy" RELATED [OMIM:109150] xref: DOID:1440 {source="MONDO:equivalentTo"} xref: ICD9:336.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D017827 {source="DOID:1440", source="MONDO:equivalentTo"} xref: NCIT:C84830 {source="DOID:1440", source="MONDO:equivalentTo"} xref: OMIM:109150 {source="DOID:1440", source="MONDO:equivalentTo", source="Orphanet:98757", source="Orphanet:98757/e"} xref: Orphanet:98757 {source="MONDO:equivalentTo", source="OMIM:109150"} xref: SCTID:91952008 {source="DOID:1440", source="MONDO:equivalentTo"} xref: UMLS:C0024408 {source="DOID:1440", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:98757", source="OMIM:109150", source="NCIT:C84830"} is_a: MONDO:0015548 {source="Orphanet:98757"} ! Huntington disease-like syndrome is_a: MONDO:0019792 {source="Orphanet:98757"} ! autosomal dominant cerebellar ataxia type I property_value: exactMatch DOID:1440 property_value: exactMatch DOID:1440 property_value: exactMatch http://identifiers.org/mesh/D017827 property_value: exactMatch http://identifiers.org/mesh/D017827 property_value: exactMatch http://identifiers.org/snomedct/91952008 property_value: exactMatch http://identifiers.org/snomedct/91952008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024408 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024408 property_value: exactMatch https://omim.org/entry/109150 property_value: exactMatch https://omim.org/entry/109150 property_value: exactMatch NCIT:C84830 property_value: exactMatch NCIT:C84830 property_value: exactMatch Orphanet:98757 property_value: exactMatch Orphanet:98757 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0007185 name: Banki syndrome def: "Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965." [Orphanet:1228] subset: gard_rare {source="GARD:0000813"} subset: ordo_malformation_syndrome {source="Orphanet:1228"} synonym: "Banki syndrome" EXACT [OMIM:109300] synonym: "fusion of the lunate and cuneiform bones of the wrist, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis)" RELATED [GARD:0000813] xref: MESH:C566228 {source="MONDO:equivalentTo"} xref: OMIM:109300 {source="MONDO:equivalentTo", source="Orphanet:1228", source="Orphanet:1228/e"} xref: Orphanet:1228 {source="OMIM:109300", source="MONDO:equivalentTo"} xref: SCTID:733093004 {source="MONDO:equivalentTo"} xref: UMLS:C1862319 {source="OMIM:109300", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1228"} is_a: MONDO:0018234 ! dysostosis property_value: exactMatch http://identifiers.org/mesh/C566228 property_value: exactMatch http://identifiers.org/snomedct/733093004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862319 property_value: exactMatch https://omim.org/entry/109300 property_value: exactMatch Orphanet:1228 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/813/banki-syndrome xsd:anyURI {source="GARD:0000813"} [Term] id: MONDO:0007187 name: nevoid basal cell carcinoma syndrome def: "A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities." [Orphanet:377] subset: clingen subset: ordo_malformation_syndrome {source="Orphanet:377"} synonym: "basal cell nevus syndrome" EXACT [DOID:2512, MONDO:Lexical, OMIM:109400, Orphanet:377] synonym: "BCNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:109400] synonym: "Gorlin syndrome" EXACT [DOID:2512, OMIM:109400] synonym: "Gorlin-Goltz syndrome" EXACT [OMIM:109400, Orphanet:377] synonym: "multiple basal cell carcinomas" EXACT [NCIT:C2892] synonym: "multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies" RELATED [OMIM:109400] synonym: "NBCCS" EXACT ABBREVIATION [Orphanet:377] synonym: "nevoid basal cell cancer syndrome" EXACT [NCIT:C2892] synonym: "nevoid basal cell carcinoma syndrome" EXACT [OMIM:109400, Orphanet:377] xref: DOID:0070365 {source="MONDO:equivalentTo"} xref: DOID:2512 {source="MONDO:equivalentTo"} xref: MedDRA:10062804 {source="Orphanet:377/e", source="Orphanet:377"} xref: MESH:D001478 {source="DOID:2512", source="MONDO:equivalentTo"} xref: NCIT:C2892 {source="DOID:2512", source="MONDO:equivalentTo"} xref: OMIM:109400 {source="Orphanet:377/e", source="DOID:2512", source="MONDO:equivalentTo", source="Orphanet:377"} xref: Orphanet:377 {source="OMIM:109400", source="MONDO:equivalentTo"} xref: SCTID:69408002 {source="DOID:2512", source="MONDO:equivalentTo"} xref: UMLS:C0004779 {source="OMIM:109400", source="Orphanet:377/e", source="DOID:2512", source="MONDO:equivalentTo", source="NCIT:C2892", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:377"} is_a: MONDO:0000426 {source="DOID:2512", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0015356 {source="NCIT:C2892/inferred", source="Orphanet:377"} ! hereditary neoplastic syndrome is_a: MONDO:0016756 {source="Orphanet:377"} ! inherited nervous system cancer-predisposing syndrome is_a: MONDO:0019755 ! developmental defect during embryogenesis is_a: MONDO:0042983 {source="NCIT:C2892", source="Wikipedia:Phakomatosis"} ! neurocutaneous syndrome relationship: disease_has_feature MONDO:0020175 {source="Orphanet:377"} ! malignant tumor of palpebral epidermis property_value: closeMatch http://identifiers.org/meddra/10062804 property_value: exactMatch DOID:0070365 property_value: exactMatch DOID:2512 property_value: exactMatch http://identifiers.org/mesh/D001478 property_value: exactMatch http://identifiers.org/snomedct/69408002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004779 property_value: exactMatch https://omim.org/entry/109400 property_value: exactMatch NCIT:C2892 property_value: exactMatch Orphanet:377 [Term] id: MONDO:0007188 name: primary basilar invagination def: "Primary basilar impression (PBI) is a very rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. PBI can be asymptomatic or associated with severe neurological dysfunction." [Orphanet:2285] subset: ordo_morphological_anomaly {source="Orphanet:2285"} synonym: "basilar impression, primary" RELATED [OMIM:109500] synonym: "Bull-Nixon syndrome" EXACT [Orphanet:2285] synonym: "primary basilar impression" RELATED [GARD:0001037] xref: MESH:C566226 {source="MONDO:equivalentTo"} xref: OMIM:109500 {source="Orphanet:2285/e", source="MONDO:equivalentTo", source="Orphanet:2285"} xref: Orphanet:2285 {source="OMIM:109500", source="MONDO:equivalentTo"} xref: UMLS:C1862299 {source="OMIM:109500", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2285"} is_a: MONDO:0015141 {source="Orphanet:2285"} ! disorder of medulla oblongata property_value: exactMatch http://identifiers.org/mesh/C566226 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862299 property_value: exactMatch https://omim.org/entry/109500 property_value: exactMatch Orphanet:2285 [Term] id: MONDO:0007194 name: familial bicuspid aortic valve def: "A rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection)." [https://orcid.org/0000-0001-5208-3432, Orphanet:402075] subset: ordo_morphological_anomaly {source="Orphanet:402075"} synonym: "aortic valve disease 1" NARROW [MONDO:Lexical, OMIM:109730] synonym: "aortic valve disease type 1" NARROW [MONDORULE:1, OMIM:109730] synonym: "AOVD1" NARROW ABBREVIATION [MONDO:Lexical, OMIM:109730] synonym: "familial BAV" EXACT [Orphanet:402075] xref: DOID:0080332 {source="MONDO:equivalentTo"} xref: OMIMPS:109730 {source="MONDO:cjm", source="DOID:0080332", source="MONDO:equivalentTo"} xref: Orphanet:402075 {source="OMIM:109730", source="DOID:0080332", source="MONDO:equivalentTo"} xref: UMLS:C0428791 {source="OMIM:109730", source="MONDO:directSiblingOf"} is_a: EFO:0009531 {source="DOID:0080332", source="MONDO:Redundant", source="OMIM:109730"} ! aortic valve disease is_a: MONDO:0017131 {source="Orphanet:402075"} ! hereditary cardiac anomaly is_a: MONDO:0020286 {source="Orphanet:402075"} ! aortic malformation property_value: exactMatch DOID:0080332 property_value: exactMatch https://omim.org/phenotypicSeries/PS109730 property_value: exactMatch Orphanet:402075 [Term] id: MONDO:0007197 name: bladder diverticulum synonym: "bladder diverticulum" EXACT [MONDO:ambiguous, OMIM:109820] synonym: "bladder diverticulum (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "diverticulum - bladder" EXACT [DOID:11353] synonym: "diverticulum of bladder" EXACT [DOID:11353] xref: DOID:11353 {source="MONDO:equivalentTo"} xref: HP:0000015 {source="MONDO:otherHierarchy"} xref: ICD10CM:N32.3 {source="MONDO:equivalentTo", source="DOID:11353"} xref: ICD9:596.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11353"} xref: MESH:C562406 {source="MONDO:equivalentTo", source="DOID:11353"} xref: NCIT:C160155 {source="MONDO:equivalentTo"} xref: OMIM:109820 {source="MONDO:equivalentTo", source="DOID:11353"} xref: SCTID:197866008 {source="MONDO:equivalentTo", source="DOID:11353"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: EFO:1000018 {source="DOID:11353"} ! bladder disease property_value: exactMatch DOID:11353 property_value: exactMatch http://identifiers.org/mesh/C562406 property_value: exactMatch http://identifiers.org/snomedct/197866008 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/N32.3 property_value: exactMatch https://omim.org/entry/109820 property_value: exactMatch NCIT:C160155 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000589 "bladder diverticulum (disease)" xsd:string [Term] id: MONDO:0007198 name: Ascher syndrome def: "Ascher syndrome is a very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported." [Orphanet:1253] subset: gard_rare {source="GARD:0000201"} subset: ordo_malformation_syndrome {source="Orphanet:1253"} synonym: "Ascher syndrome" EXACT [OMIM:109900] synonym: "Ascher's syndrome" RELATED [GARD:0000201] synonym: "blepharochalasis - double lip" RELATED [GARD:0000201] synonym: "blepharochalasis and DOUBLE LIP" RELATED [OMIM:109900] synonym: "blepharochalasis and Double lip" RELATED [OMIM:109900] synonym: "blepharochalasis and double lip" RELATED [GARD:0000201] synonym: "blepharochalasis and Double type lip" EXACT [MONDORULE:4, OMIM:109900] synonym: "blepharochalasis-double lip syndrome" EXACT [Orphanet:1253] synonym: "Double upper lip, blepharochalasis and enlargement of the thyroid" RELATED [GARD:0000201] xref: ICD9:246.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:374.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562742 {source="MONDO:equivalentTo"} xref: OMIM:109900 {source="Orphanet:1253", source="MONDO:equivalentTo", source="Orphanet:1253/e"} xref: Orphanet:1253 {source="MONDO:equivalentTo", source="OMIM:109900"} xref: SCTID:28599006 {source="MONDO:equivalentTo"} xref: UMLS:C0339085 {source="Orphanet:1253", source="MONDO:equivalentTo", source="Orphanet:1253/e", source="MONDO:ncbi_mim2gene_medline", source="OMIM:109900"} is_a: MONDO:0015161 {source="Orphanet:1253"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability property_value: exactMatch http://identifiers.org/mesh/C562742 property_value: exactMatch http://identifiers.org/snomedct/28599006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339085 property_value: exactMatch https://omim.org/entry/109900 property_value: exactMatch Orphanet:1253 property_value: gwas:trait "true" xsd:boolean property_value: seeAlso https://rarediseases.info.nih.gov/diseases/201/ascher-syndrome xsd:anyURI {source="GARD:0000201"} [Term] id: MONDO:0007200 name: blepharonasofacial malformation syndrome def: "Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability." [Orphanet:1252] subset: gard_rare {source="GARD:0004238"} subset: ordo_malformation_syndrome {source="Orphanet:1252"} synonym: "blepharonasofacial malformation syndrome" EXACT [OMIM:110050] synonym: "Pashayan syndrome" EXACT [OMIM:110050, Orphanet:1252] synonym: "Pashayan-Prozansky syndrome" EXACT [Orphanet:1252] xref: MESH:C536303 {source="MONDO:equivalentTo"} xref: OMIM:110050 {source="Orphanet:1252", source="MONDO:equivalentTo", source="Orphanet:1252/e"} xref: Orphanet:1252 {source="OMIM:110050", source="MONDO:equivalentTo"} xref: SCTID:717913006 {source="MONDO:equivalentTo"} xref: UMLS:C0796197 {source="Orphanet:1252", source="OMIM:110050", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015159 {source="Orphanet:1252"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015503 {source="Orphanet:1252"} ! nose and cavum anomaly is_a: MONDO:0018562 {source="Orphanet:1252", source="Orphanet:1252/inferred"} ! hereditary otorhinolaryngological malformation property_value: exactMatch http://identifiers.org/mesh/C536303 property_value: exactMatch http://identifiers.org/snomedct/717913006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796197 property_value: exactMatch https://omim.org/entry/110050 property_value: exactMatch Orphanet:1252 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1252"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4238/blepharonasofacial-malformation-syndrome xsd:anyURI {source="GARD:0004238"} [Term] id: MONDO:0007201 name: blepharophimosis, ptosis, and epicanthus inversus syndrome def: "Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) is an ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type I) or without premature ovarian failure (POF) (type II)." [Orphanet:126] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:126"} synonym: "blepharophimosis syndrome type 1" RELATED [GARD:0000023] synonym: "blepharophimosis types 1 and 2" EXACT [Orphanet:126] synonym: "blepharophimosis, epicanthus inversus, and ptosis, type 1" EXACT [OMIM:110100, OMIM:genemap2] synonym: "blepharophimosis, epicanthus inversus, and ptosis, type 2" EXACT [OMIM:110100, OMIM:genemap2] synonym: "blepharophimosis, ptosis, and epicanthus inversus" RELATED [MONDO:Lexical, OMIM:110100] synonym: "blepharophimosis, ptosis, and epicanthus inversus syndrome" EXACT [] synonym: "blepharophimosis, ptosis, and epicanthus inversus syndrome type 1" RELATED [GARD:0000023] synonym: "blepharophimosis, ptosis, epicanthus inversus syndrome" RELATED [DOID:14778] synonym: "blepharophimosis, ptosis, epicanthus inversus with ovarian failure" RELATED [GARD:0000023] synonym: "blepharophimosis-epicanthus inversus-ptosis syndrome" RELATED [Orphanet:126] synonym: "BPES" RELATED ABBREVIATION [MONDO:Lexical, OMIM:110100] synonym: "BPES type 1" RELATED [GARD:0000023] synonym: "BPES with Duane retraction syndrome" RELATED [OMIM:110100] synonym: "BPES with ovarian failure" RELATED [OMIM:110100] synonym: "BPES with premature ovarian failure" RELATED [GARD:0000023] synonym: "BPES without ovarian failure" RELATED [OMIM:110100] synonym: "BPES, type 1" RELATED [OMIM:110100] synonym: "BPES, type 2" RELATED [OMIM:110100] synonym: "BPES, type I, autosomal recessive" RELATED [OMIM:110100] xref: DOID:14778 {source="MONDO:equivalentTo"} xref: MESH:C562419 {source="DOID:14778", source="MONDO:equivalentTo"} xref: OMIM:110100 {source="Orphanet:126", source="DOID:14778", source="GARD:0000023", source="MONDO:equivalentTo", source="Orphanet:126/e"} xref: Orphanet:126 {source="GARD:0000023", source="MONDO:equivalentTo", source="OMIM:110100"} xref: SCTID:715391004 {source="MONDO:equivalentTo"} xref: UMLS:C0220663 {source="Orphanet:126", source="DOID:14778", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:110100"} is_a: MONDO:0000426 {source="DOID:14778", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0008537 {source="Orphanet:126"} ! telecanthus is_a: MONDO:0019852 {source="Orphanet:126"} ! inherited primary ovarian failure is_a: MONDO:0020162 {source="Orphanet:126"} ! secondary ectropion property_value: exactMatch DOID:14778 property_value: exactMatch http://identifiers.org/mesh/C562419 property_value: exactMatch http://identifiers.org/snomedct/715391004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220663 property_value: exactMatch https://omim.org/entry/110100 property_value: exactMatch Orphanet:126 property_value: excluded_subClassOf MONDO:0015217 {source="Orphanet:126"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007202 name: blepharoptosis-myopia-ectopia lentis syndrome def: "This syndrome is characterized by bilateral congenital blepharoptosis, ectopia lentis and high myopia." [Orphanet:1259] subset: ordo_disease {source="Orphanet:1259"} synonym: "blepharoptosis myopia ectopia lentis" RELATED [GARD:0000912] synonym: "blepharoptosis, myopia, and ectopia lentis" RELATED [OMIM:110150] synonym: "dominantly inherited blepharoptosis, high myopia, and ectopia lentis" RELATED [GARD:0000912] xref: MESH:C536236 {source="MONDO:equivalentTo", source="Orphanet:1259", source="Orphanet:1259/e"} xref: OMIM:110150 {source="MONDO:equivalentTo", source="Orphanet:1259", source="Orphanet:1259/e"} xref: Orphanet:1259 {source="OMIM:110150", source="MONDO:equivalentTo"} xref: SCTID:717915004 {source="MONDO:equivalentTo"} xref: UMLS:C1862259 {source="OMIM:110150", source="MONDO:equivalentTo", source="Orphanet:1259", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1259/e"} is_a: EFO:0009674 ! lens disease property_value: exactMatch http://identifiers.org/mesh/C536236 property_value: exactMatch http://identifiers.org/snomedct/717915004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862259 property_value: exactMatch https://omim.org/entry/110150 property_value: exactMatch Orphanet:1259 property_value: excluded_subClassOf MONDO:0015217 {source="Orphanet:1259"} [Term] id: MONDO:0007203 name: blue rubber bleb nevus def: "Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia." [Orphanet:1059] subset: ordo_malformation_syndrome {source="Orphanet:1059"} synonym: "bean syndrome" EXACT [OMIM:112200, Orphanet:1059] synonym: "blue rubber bleb nevus" EXACT [OMIM:112200] synonym: "blue rubber bleb nevus syndrome" RELATED [GARD:0005940] synonym: "BRBN" EXACT ABBREVIATION [Orphanet:1059] synonym: "BRBNS" RELATED ABBREVIATION [GARD:0005940] xref: MESH:C536240 {source="Orphanet:1059", source="MONDO:equivalentTo", source="Orphanet:1059/e"} xref: NCIT:C4486 {source="MONDO:equivalentTo"} xref: OMIM:112200 {source="Orphanet:1059", source="MONDO:equivalentTo", source="Orphanet:1059/e"} xref: Orphanet:1059 {source="MONDO:equivalentTo", source="OMIM:112200"} xref: SCTID:254784002 {source="MONDO:equivalentTo"} xref: UMLS:C0346072 {source="Orphanet:1059", source="MONDO:equivalentTo", source="OMIM:112200", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C4486", source="Orphanet:1059/e"} is_a: MONDO:0015356 {source="Orphanet:1059"} ! hereditary neoplastic syndrome is_a: MONDO:0016229 {source="MONDO:0018730-obsoleted"} ! hereditary vascular anomaly is_a: MONDO:0016230 {source="MONDO:0016232-obsoleted"} ! simple vascular malformation is_a: MONDO:0019293 {source="Orphanet:1059"} ! skin vascular disease is_a: MONDO:0100118 ! hereditary skin disorder property_value: exactMatch http://identifiers.org/mesh/C536240 property_value: exactMatch http://identifiers.org/snomedct/254784002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346072 property_value: exactMatch https://omim.org/entry/112200 property_value: exactMatch NCIT:C4486 property_value: exactMatch Orphanet:1059 property_value: excluded_subClassOf MONDO:0018715 {source="NCIT:C4486"} [Term] id: MONDO:0007205 name: diaphyseal medullary stenosis-bone malignancy syndrome def: "Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)." [Orphanet:85182] subset: ordo_disease {source="Orphanet:85182"} synonym: "BDMF" RELATED ABBREVIATION [GARD:0010072] synonym: "bone dysplasia with malignant fibrous histiocytoma" RELATED [OMIM:112250] synonym: "bone dysplasia with medullary fibrosarcoma" RELATED [OMIM:112250] synonym: "bone dysplasia-medullary fibrosarcoma syndrome" EXACT [Orphanet:85182] synonym: "diaphyseal medullary stenosis with malignant fibrous histiocytoma" RELATED [MONDO:Lexical, OMIM:112250] synonym: "diaphyseal medullary stenosis-bone malignancy syndrome" EXACT [] synonym: "diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome" EXACT [Orphanet:85182] synonym: "DMS-MFH" EXACT [NCIT:C122660] synonym: "DMSMFH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:112250] synonym: "Hardcastle syndrome" EXACT [Orphanet:85182] synonym: "Hardcastle's syndrome" EXACT [NCIT:C122660] synonym: "myopathy, limb-girdle, with bone fragility" RELATED [OMIM:112250] xref: DOID:0080664 {source="MONDO:equivalentTo"} xref: NCIT:C122660 {source="MONDO:equivalentTo"} xref: OMIM:112250 {source="Orphanet:85182/e", source="MONDO:equivalentTo", source="Orphanet:85182"} xref: Orphanet:85182 {source="OMIM:112250", source="MONDO:equivalentTo"} xref: UMLS:C1862177 {source="Orphanet:85182/e", source="OMIM:112250", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:85182"} is_a: EFO:0003820 {source="Orphanet:85182"} ! bone neoplasm is_a: MONDO:0023603 ! hereditary disorder of connective tissue is_a: MONDO:0800084 {source="PMID:31633310"} ! primary bone dysplasia with increased bone density is_a: MONDO:0800159 {source="PMID:33340416"} ! disorder of polyamine metabolism property_value: exactMatch DOID:0080664 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862177 property_value: exactMatch https://omim.org/entry/112250 property_value: exactMatch NCIT:C122660 property_value: exactMatch Orphanet:85182 property_value: excluded_subClassOf MONDO:0019703 {source="Orphanet:85182"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0007207 name: Böök syndrome def: "Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics." [Orphanet:1262] subset: ordo_malformation_syndrome {source="Orphanet:1262"} synonym: "book syndrome" EXACT [OMIM:112300] synonym: "Böök syndrome" EXACT [Orphanet:1262] synonym: "PHC syndrome" RELATED [OMIM:112300] synonym: "premolar aplasia, hyperhidrosis, and canities prematura" RELATED [GARD:0000932] xref: MESH:C562993 {source="MONDO:equivalentTo"} xref: OMIM:112300 {source="Orphanet:1262/e", source="MONDO:equivalentTo", source="Orphanet:1262"} xref: Orphanet:1262 {source="MONDO:equivalentTo", source="OMIM:112300"} xref: SCTID:722296002 {source="MONDO:equivalentTo"} xref: UMLS:C0457014 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:112300", source="Orphanet:1262"} is_a: MONDO:0019287 {source="Orphanet:1262"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C562993 property_value: exactMatch http://identifiers.org/snomedct/722296002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0457014 property_value: exactMatch https://omim.org/entry/112300 property_value: exactMatch Orphanet:1262 [Term] id: MONDO:0007208 name: Boomerang dysplasia def: "Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing." [Orphanet:1263] subset: gard_rare {source="GARD:0000933"} subset: ordo_disease {source="Orphanet:1263"} synonym: "Boomerang dysplasia" EXACT [OMIM:112310] synonym: "Boomerang-like skeletal dysplasia" RELATED [GARD:0000933] synonym: "dwarfism with short, bowed, rigid limbs and characteristic facies" RELATED [GARD:0000933] xref: DOID:0050680 {source="MONDO:equivalentTo"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536573 {source="Orphanet:1263", source="MONDO:equivalentTo", source="Orphanet:1263/e"} xref: OMIM:112310 {source="Orphanet:1263", source="MONDO:equivalentTo", source="Orphanet:1263/e", source="DOID:0050680"} xref: Orphanet:1263 {source="MONDO:equivalentTo", source="OMIM:112310"} xref: SCTID:254054000 {source="MONDO:equivalentTo"} xref: UMLS:C0432201 {source="Orphanet:1263", source="MONDO:equivalentTo", source="OMIM:112310", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1263/e"} is_a: EFO:0005571 {source="DOID:0050680", source="MESH:C536573"} ! osteochondrodysplasia is_a: MONDO:0019690 {source="Orphanet:1263", source="PMID:31633310"} ! filamin-related bone disorder property_value: exactMatch DOID:0050680 property_value: exactMatch http://identifiers.org/mesh/C536573 property_value: exactMatch http://identifiers.org/snomedct/254054000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432201 property_value: exactMatch https://omim.org/entry/112310 property_value: exactMatch Orphanet:1263 property_value: excluded_subClassOf MONDO:0019700 {source="Orphanet:1263"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/933/boomerang-dysplasia xsd:anyURI {source="GARD:0000933"} [Term] id: MONDO:0007209 name: Weismann-Netter syndrome def: "Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated." [Orphanet:3344] subset: ordo_malformation_syndrome {source="Orphanet:3344"} synonym: "anterior bowing of legs with dwarfism" EXACT [Orphanet:3344] synonym: "bowing of legs, anterior with dwarfism" RELATED [GARD:0005232] synonym: "bowing of legs, anterior, with dwarfism" RELATED [OMIM:112350] synonym: "Toxopachyosteose Diaphysaire Tibio-Peroniere" RELATED [OMIM:112350] synonym: "Weismann Netter syndrome" RELATED [GARD:0005232] synonym: "WEISMANN-NETTER syndrome" RELATED [OMIM:112350] synonym: "Weismann-Netter syndrome" EXACT [MONDO:Lexical, OMIM:112350] synonym: "Weismann-Netter-Stuhl syndrome" EXACT [Orphanet:3344] synonym: "WNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:112350] xref: MESH:C537082 {source="Orphanet:3344", source="MONDO:equivalentTo", source="Orphanet:3344/e"} xref: OMIM:112350 {source="Orphanet:3344", source="MONDO:equivalentTo", source="Orphanet:3344/e"} xref: Orphanet:3344 {source="OMIM:112350", source="MONDO:equivalentTo"} xref: SCTID:715532007 {source="MONDO:equivalentTo"} xref: UMLS:C1862172 {source="OMIM:112350", source="Orphanet:3344", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3344/e"} is_a: MONDO:0019698 {source="Orphanet:3344"} ! bent bone dysplasia property_value: exactMatch http://identifiers.org/mesh/C537082 property_value: exactMatch http://identifiers.org/snomedct/715532007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862172 property_value: exactMatch https://omim.org/entry/112350 property_value: exactMatch Orphanet:3344 [Term] id: MONDO:0007211 name: brachydactyly-arterial hypertension syndrome def: "Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50." [Orphanet:1276] subset: ordo_malformation_syndrome {source="Orphanet:1276"} synonym: "Bilginturan brachydactyly" EXACT [Orphanet:1276] synonym: "Bilginturan syndrome" EXACT [OMIM:112410, Orphanet:1276] synonym: "brachydactyly type E with short stature and hypertension" RELATED [GARD:0000967] synonym: "brachydactyly type E, with short stature and hypertension" EXACT [Orphanet:1276] synonym: "brachydactyly with hypertension" RELATED [OMIM:112410] synonym: "brachydactyly, type E, with short stature and hypertension" RELATED [OMIM:112410] synonym: "HTNB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:112410] synonym: "hypertension and brachydactyly syndrome" RELATED [MONDO:Lexical, OMIM:112410] xref: DOID:0111247 {source="MONDO:equivalentTo"} xref: MESH:C537095 {source="MONDO:equivalentTo"} xref: OMIM:112410 {source="Orphanet:1276", source="MONDO:equivalentTo", source="Orphanet:1276/e"} xref: Orphanet:1276 {source="MONDO:equivalentTo", source="OMIM:112410"} xref: SCTID:720568003 {source="MONDO:equivalentTo"} xref: UMLS:C1862170 {source="Orphanet:1276", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:112410"} is_a: MONDO:0018454 ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation is_a: MONDO:0800094 {source="PMID:31633310"} ! dysostosis with brachydactyly with extraskeletal manifestations property_value: exactMatch DOID:0111247 property_value: exactMatch http://identifiers.org/mesh/C537095 property_value: exactMatch http://identifiers.org/snomedct/720568003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862170 property_value: exactMatch https://omim.org/entry/112410 property_value: exactMatch Orphanet:1276 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0007212 name: brachydactyly-long thumb syndrome def: "Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981." [Orphanet:2946] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2946"} synonym: "brachydactyly long thumb type" RELATED [GARD:0000968] synonym: "brachydactyly, long thumb type" EXACT [Orphanet:2946] synonym: "brachydactyly, long-thumb type" RELATED [OMIM:112430] synonym: "long-thumb brachydactyly syndrome" RELATED [GARD:0000968, OMIM:112430] xref: MESH:C566204 {source="MONDO:equivalentTo"} xref: OMIM:112430 {source="Orphanet:2946/e", source="MONDO:equivalentTo", source="Orphanet:2946", source="GARD:0000968"} xref: Orphanet:2946 {source="MONDO:equivalentTo", source="OMIM:112430", source="GARD:0000968"} xref: SCTID:733454004 {source="MONDO:equivalentTo"} xref: UMLS:C1862169 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:112430", source="Orphanet:2946", source="GARD:0000968"} is_a: MONDO:0016432 {source="Orphanet:2946"} ! heart-hand syndrome property_value: exactMatch http://identifiers.org/mesh/C566204 property_value: exactMatch http://identifiers.org/snomedct/733454004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862169 property_value: exactMatch https://omim.org/entry/112430 property_value: exactMatch Orphanet:2946 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/968/brachydactyly-long-thumb-type xsd:anyURI {source="GARD:0000968"} [Term] id: MONDO:0007213 name: Ballard syndrome def: "Ballard syndrome is characterized by hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature." [Orphanet:93395] subset: ordo_malformation_syndrome {source="Orphanet:93395"} synonym: "Ballard type brachydactyly" EXACT [DOID:0110963] synonym: "brachydactyly Ballard type" RELATED [GARD:0000959] synonym: "brachydactyly combined B and E types" RELATED [GARD:0000959] synonym: "brachydactyly types B and E combined" EXACT [DOID:0110963, Orphanet:93395] synonym: "brachydactyly, Ballard type" RELATED [OMIM:112440] synonym: "brachydactyly, combined B and E types" RELATED [OMIM:112440] synonym: "Pitt Williams brachydactyly" RELATED [GARD:0000959] synonym: "Pitt-Williams brachydactyly" EXACT [DOID:0110963, OMIM:112440, Orphanet:93395] xref: DOID:0110963 {source="MONDO:equivalentTo"} xref: MESH:C537094 {source="MONDO:equivalentTo"} xref: OMIM:112440 {source="DOID:0110963", source="Orphanet:93395", source="MONDO:equivalentTo", source="Orphanet:93395/e"} xref: Orphanet:93395 {source="DOID:0110963", source="MONDO:equivalentObsolete", source="OMIM:112440"} xref: SCTID:722298001 {source="MONDO:equivalentTo"} xref: UMLS:C1862163 {source="Orphanet:93395", source="OMIM:112440", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0021004 {source="DOID:0110963"} ! brachydactyly property_value: exactMatch DOID:0110963 property_value: exactMatch http://identifiers.org/mesh/C537094 property_value: exactMatch http://identifiers.org/snomedct/722298001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862163 property_value: exactMatch https://omim.org/entry/112440 [Term] id: MONDO:0007214 name: brachydactyly-preaxial hallux varus syndrome def: "Preaxial brachydactyly-hallux varus syndrome is characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits." [Orphanet:1278] subset: ordo_malformation_syndrome {source="Orphanet:1278"} synonym: "brachydactyly preaxial with hallux varus and thumb abduction" RELATED [GARD:0000972] synonym: "brachydactyly, preaxial, with hallux varus and thumb abduction" RELATED [OMIM:112450] synonym: "Christian brachydactyly" EXACT [DOID:0110962, OMIM:112450] synonym: "dominant preaxial brachydactyly with hallux varus and thumb abduction" RELATED [GARD:0000972] synonym: "preaxial brachydactyly with hallux varus and thumb abduction" EXACT [DOID:0110962] xref: DOID:0110962 {source="MONDO:equivalentTo"} xref: MESH:C537087 {source="MONDO:equivalentTo"} xref: OMIM:112450 {source="DOID:0110962", source="Orphanet:1278", source="MONDO:equivalentTo", source="Orphanet:1278/e"} xref: Orphanet:1278 {source="DOID:0110962", source="OMIM:112450", source="MONDO:equivalentTo"} xref: UMLS:C1862162 {source="OMIM:112450", source="Orphanet:1278", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019054 {source="Orphanet:1278", source="Orphanet:1278/inferred"} ! congenital limb malformation property_value: exactMatch DOID:0110962 property_value: exactMatch http://identifiers.org/mesh/C537087 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862162 property_value: exactMatch https://omim.org/entry/112450 property_value: exactMatch Orphanet:1278 [Term] id: MONDO:0007215 name: brachydactyly type A1 def: "Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges." [Orphanet:93388] subset: gard_rare {source="GARD:0000978"} subset: ordo_malformation_syndrome {source="Orphanet:93388"} synonym: "BDA1" EXACT ABBREVIATION [DOID:0110964, MONDO:Lexical, OMIM:112500] synonym: "brachydactyly Farabee type" RELATED [GARD:0000978] synonym: "brachydactyly, Farabee type" EXACT [Orphanet:93388] synonym: "brachydactyly, type A1" RELATED [MONDO:Lexical, OMIM:112500] synonym: "Farabee type brachydactyly" EXACT [DOID:0110964] synonym: "Farabee-type brachydactyly" RELATED [OMIM:112500] xref: DOID:0110964 {source="MONDO:equivalentTo"} xref: MESH:C537088 {source="Orphanet:93388", source="MONDO:equivalentTo", source="Orphanet:93388/e"} xref: OMIM:112500 {source="DOID:0110964", source="Orphanet:93388", source="MONDO:equivalentTo", source="Orphanet:93388/e"} xref: Orphanet:93388 {source="DOID:0110964", source="MONDO:equivalentTo", source="OMIM:112500"} xref: SCTID:715720006 {source="MONDO:equivalentTo"} xref: UMLS:C1862151 {source="Orphanet:93388", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:93388/e", source="OMIM:112500"} is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly is_a: MONDO:0800093 {source="PMID:31633310"} ! dysostosis with brachydactyly without extraskeletal manifestations property_value: exactMatch DOID:0110964 property_value: exactMatch http://identifiers.org/mesh/C537088 property_value: exactMatch http://identifiers.org/snomedct/715720006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862151 property_value: exactMatch https://omim.org/entry/112500 property_value: exactMatch Orphanet:93388 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/978/brachydactyly-type-a1 xsd:anyURI {source="GARD:0000978"} [Term] id: MONDO:0007216 name: brachydactyly type A2 def: "Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger." [Orphanet:93396] subset: gard_rare {source="GARD:0000979"} subset: ordo_malformation_syndrome {source="Orphanet:93396"} synonym: "BDA2" EXACT ABBREVIATION [DOID:0110965, MONDO:Lexical, OMIM:112600] synonym: "brachydactyly, Mohr-Wriedt type" EXACT [Orphanet:93396] synonym: "brachydactyly, type A2" RELATED [MONDO:Lexical, OMIM:112600] synonym: "Brachymesophalangy 2" RELATED [OMIM:112600] synonym: "brachymesophalangy II" EXACT [DOID:0110965] synonym: "Brachymesophalangy type 2" RELATED [GARD:0000989] synonym: "Mohr-Wriedt type brachydactyly" EXACT [DOID:0110965, OMIM:112600] xref: DOID:0110965 {source="MONDO:equivalentTo"} xref: MESH:C537089 {source="DOID:0110965", source="Orphanet:93396", source="MONDO:equivalentTo", source="Orphanet:93396/e"} xref: OMIM:112600 {source="DOID:0110965", source="Orphanet:93396", source="MONDO:equivalentTo", source="Orphanet:93396/e"} xref: Orphanet:93396 {source="DOID:0110965", source="MONDO:equivalentTo", source="OMIM:112600"} xref: SCTID:720569006 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDO:indirect"} ! syndromic disease is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly property_value: exactMatch DOID:0110965 property_value: exactMatch http://identifiers.org/mesh/C537089 property_value: exactMatch http://identifiers.org/snomedct/720569006 property_value: exactMatch https://omim.org/entry/112600 property_value: exactMatch Orphanet:93396 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/979/brachydactyly-type-a2 xsd:anyURI {source="GARD:0000979"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/989/brachymesophalangy-type-2 xsd:anyURI {source="GARD:0000989"} [Term] id: MONDO:0007218 name: brachydactyly type A4 def: "Brachydactyly type A4 (BDA4) is a congenital malformation characterized by brachymesophalangy affecting mainly the 2nd and the 5th digit." [Orphanet:93394] subset: gard_rare {source="GARD:0000990"} subset: ordo_malformation_syndrome {source="Orphanet:93394"} synonym: "BDA4" EXACT ABBREVIATION [DOID:0110967, MONDO:Lexical, OMIM:112800] synonym: "brachydactyly Temtamy type" RELATED [GARD:0000990] synonym: "brachydactyly, Temtamy type" EXACT [Orphanet:93394] synonym: "brachydactyly, type A4" RELATED [MONDO:Lexical, OMIM:112800] synonym: "Brachymesophalangy 2 and 5" RELATED [OMIM:112800] synonym: "Brachymesophalangy II and V" EXACT [Orphanet:93394] synonym: "brachymesophalangy II and V" EXACT [DOID:0110967] synonym: "Temtamy type brachydactyly" EXACT [DOID:0110967, OMIM:112800] xref: DOID:0110967 {source="MONDO:equivalentTo"} xref: MESH:C537097 {source="MONDO:equivalentTo"} xref: OMIM:112800 {source="Orphanet:93394", source="DOID:0110967", source="MONDO:equivalentTo", source="Orphanet:93394/e"} xref: Orphanet:93394 {source="DOID:0110967", source="MONDO:equivalentTo", source="OMIM:112800"} xref: SCTID:715721005 {source="MONDO:equivalentTo"} is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly property_value: exactMatch DOID:0110967 property_value: exactMatch http://identifiers.org/mesh/C537097 property_value: exactMatch http://identifiers.org/snomedct/715721005 property_value: exactMatch https://omim.org/entry/112800 property_value: exactMatch Orphanet:93394 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/990/brachydactyly-type-a4 xsd:anyURI {source="GARD:0000990"} [Term] id: MONDO:0007219 name: Osebold-Remondini syndrome def: "A brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant." [https://orcid.org/0000-0001-5208-3432, Orphanet:93382] subset: gard_rare {source="GARD:0000983"} subset: ordo_malformation_syndrome {source="Orphanet:93382"} synonym: "BDA6" EXACT ABBREVIATION [DOID:0110968] synonym: "brachydactyly type A6" EXACT [OMIM:112910] synonym: "brachydactyly, type A6" EXACT [OMIM:112910] synonym: "Brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities" RELATED [OMIM:112910] synonym: "brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities" EXACT [DOID:0110968] synonym: "OSEBOLD-Remondini syndrome" RELATED [OMIM:112910] synonym: "Osebold-Remondini syndrome" EXACT [DOID:0110968, Orphanet:93382] xref: DOID:0110968 {source="MONDO:equivalentTo"} xref: MESH:C537092 {source="Orphanet:93382/e", source="MONDO:equivalentTo", source="DOID:0110968", source="Orphanet:93382"} xref: OMIM:112910 {source="Orphanet:93382/e", source="MONDO:equivalentTo", source="DOID:0110968", source="Orphanet:93382"} xref: Orphanet:93382 {source="MONDO:equivalentTo", source="DOID:0110968", source="OMIM:112910"} xref: SCTID:715722003 {source="MONDO:equivalentTo"} xref: UMLS:C1862130 {source="Orphanet:93382/e", source="MONDO:equivalentTo", source="DOID:0110968", source="MONDO:ncbi_mim2gene_medline", source="OMIM:112910", source="Orphanet:93382"} is_a: MONDO:0019696 {source="Orphanet:93382", source="PMID:31633310"} ! acromesomelic dysplasia is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly property_value: exactMatch DOID:0110968 property_value: exactMatch http://identifiers.org/mesh/C537092 property_value: exactMatch http://identifiers.org/snomedct/715722003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862130 property_value: exactMatch https://omim.org/entry/112910 property_value: exactMatch Orphanet:93382 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/983/brachydactyly-type-a6 xsd:anyURI {source="GARD:0000983"} [Term] id: MONDO:0007220 name: brachydactyly type B1 def: "Any brachydactyly type B in which the cause of the disease is a mutation in the ROR2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "BDB1" EXACT ABBREVIATION [DOID:0110969, MONDO:Lexical, OMIM:113000] synonym: "brachydactyly type B caused by mutation in ROR2" EXACT [MONDO:design_pattern] synonym: "brachydactyly, type B" RELATED [OMIM:113000] synonym: "brachydactyly, type B1" RELATED [MONDO:Lexical, OMIM:113000] synonym: "ROR2 brachydactyly type B" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110969 {source="MONDO:equivalentTo"} xref: MESH:C566196 {source="MONDO:equivalentTo"} xref: OMIM:113000 {source="DOID:0110969", source="MONDO:equivalentTo"} xref: Orphanet:572385 {source="MONDO:equivalentTo"} is_a: MONDO:0019676 {source="MONDO:Redundant", source="MONDO:cjm"} ! brachydactyly type B is_a: MONDO:0800093 {source="PMID:31633310"} ! dysostosis with brachydactyly without extraskeletal manifestations property_value: exactMatch DOID:0110969 property_value: exactMatch http://identifiers.org/mesh/C566196 property_value: exactMatch https://omim.org/entry/113000 property_value: exactMatch Orphanet:572385 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0007221 name: brachydactyly type C subset: ordo_malformation_syndrome {source="Orphanet:93384"} synonym: "brachydactyly Haws type" RELATED [GARD:0000986] synonym: "brachydactyly type C" EXACT [] synonym: "brachydactyly, Haws type" RELATED [OMIM:113100] synonym: "brachydactyly, type C" RELATED [MONDO:Lexical, OMIM:113100] xref: DOID:0110970 {source="MONDO:equivalentTo"} xref: MESH:C537093 {source="Orphanet:93384", source="MONDO:equivalentTo", source="Orphanet:93384/e", source="DOID:0110970"} xref: OMIM:113100 {source="Orphanet:93384", source="MONDO:equivalentTo", source="Orphanet:93384/e", source="DOID:0110970"} xref: Orphanet:93384 {source="OMIM:113100", source="MONDO:equivalentTo", source="DOID:0110970"} xref: UMLS:C1862103 {source="Orphanet:93384", source="OMIM:113100", source="MONDO:equivalentTo", source="Orphanet:93384/e", source="MONDO:ncbi_mim2gene_medline", source="DOID:0110970"} is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly is_a: MONDO:0800093 {source="PMID:31633310"} ! dysostosis with brachydactyly without extraskeletal manifestations property_value: exactMatch DOID:0110970 property_value: exactMatch http://identifiers.org/mesh/C537093 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862103 property_value: exactMatch https://omim.org/entry/113100 property_value: exactMatch Orphanet:93384 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0007225 name: fibular aplasia-ectrodactyly syndrome def: "Fibular aplasia-ectrodactyly syndrome is characterized by fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females." [Orphanet:1118] subset: ordo_malformation_syndrome {source="Orphanet:1118"} synonym: "brachydactyly-ectrodactyly with fibular aplasia or hypoplasia" RELATED [OMIM:113310] synonym: "fibular aplasia ectrodactyly" RELATED [GARD:0002331] xref: MESH:C537930 {source="MONDO:equivalentTo", source="Orphanet:1118", source="Orphanet:1118/e"} xref: OMIM:113310 {source="MONDO:equivalentTo", source="Orphanet:1118", source="Orphanet:1118/e"} xref: Orphanet:1118 {source="MONDO:equivalentTo", source="OMIM:113310"} xref: UMLS:C1862100 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:113310", source="Orphanet:1118", source="Orphanet:1118/e"} is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 {source="MONDO:0015226-obsoleted"} ! congenital limb malformation property_value: exactMatch http://identifiers.org/mesh/C537930 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862100 property_value: exactMatch https://omim.org/entry/113310 property_value: exactMatch Orphanet:1118 [Term] id: MONDO:0007226 name: brachydactyly-nystagmus-cerebellar ataxia syndrome def: "Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients." [Orphanet:1246] comment: Editor note: check GARD subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1246"} synonym: "Biemond syndrome" EXACT [Orphanet:1246] synonym: "Biemond syndrome type 1" RELATED [GARD:0000881] synonym: "brachydactyly - nystagmus - cerebellar ataxia" RELATED [GARD:0000971] synonym: "brachydactyly, nystagmus and cerebellar ataxia" RELATED [GARD:0000971] synonym: "brachydactyly-NYSTAGMUS-cerebellar ataxia" RELATED [OMIM:113400] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C566192 {source="MONDO:equivalentTo"} xref: OMIM:113400 {source="Orphanet:1246", source="MONDO:equivalentTo", source="Orphanet:1246/e"} xref: Orphanet:1246 {source="MONDO:equivalentTo", source="OMIM:113400"} xref: SCTID:205828009 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:1246"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C566192 property_value: exactMatch http://identifiers.org/snomedct/205828009 property_value: exactMatch https://omim.org/entry/113400 property_value: exactMatch Orphanet:1246 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/881/biemond-syndrome-type-1 xsd:anyURI {source="GARD:0000881"} [Term] id: MONDO:0007227 name: Sillence syndrome def: "Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic." [Orphanet:3168] subset: ordo_malformation_syndrome {source="Orphanet:3168"} synonym: "brachydactyly-distal symphalangism syndrome" RELATED [GARD:0004869, OMIM:113450] synonym: "brachydactyly-symphalangism syndrome" EXACT [Orphanet:3168] xref: MESH:C537338 {source="Orphanet:3168", source="MONDO:equivalentTo", source="Orphanet:3168/e"} xref: OMIM:113450 {source="Orphanet:3168", source="MONDO:equivalentTo", source="Orphanet:3168/e"} xref: Orphanet:3168 {source="OMIM:113450", source="MONDO:equivalentTo"} xref: SCTID:732956000 {source="MONDO:equivalentTo"} xref: UMLS:C0342282 {source="MONDO:relatedTo", source="Orphanet:3168"} xref: UMLS:C1862092 {source="OMIM:113450", source="Orphanet:3168", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3168/e"} is_a: MONDO:0002254 {source="Orphanet:3168"} ! syndromic disease property_value: exactMatch http://identifiers.org/mesh/C537338 property_value: exactMatch http://identifiers.org/snomedct/732956000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862092 property_value: exactMatch https://omim.org/entry/113450 property_value: exactMatch Orphanet:3168 [Term] id: MONDO:0007230 name: Brachymorphism-onychodysplasia-dysphalangism syndrome def: "Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants." [Orphanet:1292] subset: ordo_malformation_syndrome {source="Orphanet:1292"} synonym: "bod syndrome" EXACT [OMIM:113477, Orphanet:1292] synonym: "Brachymorphism onychodysplasia dysphalangism syndrome" RELATED [GARD:0000918] synonym: "Brachymorphism-onychodysplasia-dysphalangism syndrome" EXACT [OMIM:113477] synonym: "Senior syndrome" EXACT [Orphanet:1292] xref: MESH:C536242 {source="Orphanet:1292/e", source="MONDO:equivalentTo", source="Orphanet:1292"} xref: OMIM:113477 {source="Orphanet:1292/e", source="MONDO:equivalentTo", source="Orphanet:1292"} xref: Orphanet:1292 {source="MONDO:equivalentTo", source="OMIM:113477"} xref: SCTID:720573009 {source="MONDO:equivalentTo"} xref: UMLS:C1862082 {source="Orphanet:1292/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:113477", source="Orphanet:1292"} is_a: MONDO:0015160 {source="Orphanet:1292"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0018454 ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation property_value: exactMatch http://identifiers.org/mesh/C536242 property_value: exactMatch http://identifiers.org/snomedct/720573009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862082 property_value: exactMatch https://omim.org/entry/113477 property_value: exactMatch Orphanet:1292 [Term] id: MONDO:0007231 name: brachytelephalangy-dysmorphism-Kallmann syndrome def: "Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986." [Orphanet:1295] subset: ordo_malformation_syndrome {source="Orphanet:1295"} synonym: "BRACHYTELEPHALANGY with characteristic facies and Kallmann syndrome" RELATED [OMIM:113480] xref: MESH:C537101 {source="MONDO:equivalentTo"} xref: OMIM:113480 {source="Orphanet:1295/e", source="MONDO:equivalentTo", source="Orphanet:1295"} xref: Orphanet:1295 {source="OMIM:113480", source="MONDO:equivalentTo"} xref: UMLS:C2931421 {source="OMIM:113480", source="MONDO:equivalentTo", source="Orphanet:1295"} is_a: MONDO:0015161 {source="Orphanet:1295"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism is_a: MONDO:0018454 ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation property_value: exactMatch http://identifiers.org/mesh/C537101 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931421 property_value: exactMatch https://omim.org/entry/113480 property_value: exactMatch Orphanet:1295 [Term] id: MONDO:0007232 name: autosomal dominant brachyolmia def: "Autosomal dominant brachyolmia is a relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood." [Orphanet:93304] subset: ordo_malformation_syndrome {source="Orphanet:93304"} synonym: "BCYM3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:113500] synonym: "brachyolmia autosomal dominant" RELATED [GARD:0010429] synonym: "brachyolmia type 3" EXACT [MONDO:Lexical, OMIM:113500, Orphanet:93304] synonym: "brachyolmia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:113500] synonym: "brachyrachia" RELATED [OMIM:113500] xref: OMIM:113500 {source="MONDO:equivalentTo", source="Orphanet:93304", source="Orphanet:93304/e"} xref: Orphanet:93304 {source="MONDO:equivalentTo", source="OMIM:113500"} xref: SCTID:717264003 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 {source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0015262 {source="DC-OMIM:113500", source="MONDO:Redundant", source="Orphanet:93304"} ! brachyolmia is_a: MONDO:0018240 {source="Orphanet:93304", source="PMID:31633310"} ! TRPV4-related bone disorder property_value: exactMatch http://identifiers.org/snomedct/717264003 property_value: exactMatch https://omim.org/entry/113500 property_value: exactMatch Orphanet:93304 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0007235 name: branchiooculofacial syndrome def: "Branchio-oculo-facial syndrome (BOFS) is characterized by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth." [Orphanet:1297] subset: gard_rare {source="GARD:0003212"} subset: ordo_malformation_syndrome {source="Orphanet:1297"} synonym: "Bof syndrome" RELATED [OMIM:113620] synonym: "BOFS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:113620, Orphanet:1297] synonym: "BOFS syndrome" RELATED [GARD:0003212] synonym: "branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature ageing" RELATED OMO:0003005 [] synonym: "branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging" RELATED [GARD:0003212] synonym: "branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Ageing" RELATED OMO:0003005 [] synonym: "branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Aging" RELATED [OMIM:113620] synonym: "branchio-oculo-facial syndrome" RELATED [Orphanet:1297] synonym: "branchiooculofacial syndrome" EXACT [MONDO:Lexical, OMIM:113620] synonym: "hemangiomatous branchial clefts-Lip Pseudocleft syndrome" RELATED [OMIM:113620] synonym: "lip Pseudocleft-Hemangiomatous branchial cyst syndrome" RELATED [OMIM:113620] xref: DOID:0050691 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:113620 {source="Orphanet:1297", source="MONDO:equivalentTo", source="Orphanet:1297/e", source="DOID:0050691"} xref: Orphanet:1297 {source="MONDO:equivalentTo", source="OMIM:113620"} xref: SCTID:449821007 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 {source="DOID:0050691", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0015161 {source="Orphanet:1297"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability property_value: exactMatch DOID:0050691 property_value: exactMatch http://identifiers.org/snomedct/449821007 property_value: exactMatch https://omim.org/entry/113620 property_value: exactMatch Orphanet:1297 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3212/branchiooculofacial-syndrome xsd:anyURI {source="GARD:0003212"} [Term] id: MONDO:0007239 name: epidermolytic ichthyosis def: "A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic." [Orphanet:312] comment: Editor note: check this. Should there be a generic form as well as AD form? Form for each gene? subset: ordo_disease {source="Orphanet:312"} synonym: "autosomal dominant epidermolytic ichthyosis" NARROW [Orphanet:312] synonym: "BCIE" EXACT ABBREVIATION [Orphanet:312] synonym: "bullous congenital ichthyosiform erythroderma" EXACT [DOID:4603, OMIM:113800, Orphanet:312] synonym: "bullous congenital ichthyosiform erythroderma of Brock" EXACT [Orphanet:312] synonym: "bullous erythroderma Ichthyosiformis congenita of Brocq" RELATED [OMIM:113800] synonym: "bullous ichthyosiform erythroderma" RELATED [OMIM:113800] synonym: "bullous ichthyosiform erythroderma congenita" RELATED [GARD:0001039] synonym: "bullous ichthyosis" EXACT [Orphanet:312] synonym: "congenital bullous ichthyosiform erythroderma" RELATED [GARD:0001039] synonym: "EHK" EXACT ABBREVIATION [MONDO:Lexical, OMIM:113800, Orphanet:312] synonym: "EI" EXACT ABBREVIATION [Orphanet:312] synonym: "epidermolytic hyperkeratosis" EXACT [MONDO:Lexical, OMIM:113800, Orphanet:312] synonym: "epidermolytic hyperkeratosis, late-onset" RELATED [OMIM:113800] synonym: "epidermolytic ichthyosis" EXACT [OMIM:113800, PMID:20643494] synonym: "epidermolytic palmoplantar hyperkeratosis" EXACT [DOID:4603] synonym: "ichthyosis hystrix Brocq type" EXACT [Orphanet:312] xref: DOID:0081358 {source="MONDO:equivalentTo"} xref: DOID:4603 {source="MONDO:equivalentTo"} xref: MESH:D017488 {source="MONDO:equivalentTo", source="DOID:4603"} xref: NCIT:C62569 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:4603"} xref: OMIM:113800 {source="Orphanet:312", source="MONDO:equivalentTo", source="Orphanet:312/e", source="DOID:4603"} xref: Orphanet:312 {source="MONDO:equivalentTo", source="OMIM:113800"} xref: SCTID:254167000 {source="MONDO:equivalentTo", source="DOID:4603"} is_a: MONDO:0017266 {source="Orphanet:312"} ! keratinopathic ichthyosis property_value: exactMatch DOID:0081358 property_value: exactMatch DOID:4603 property_value: exactMatch http://identifiers.org/mesh/D017488 property_value: exactMatch http://identifiers.org/snomedct/254167000 property_value: exactMatch https://omim.org/entry/113800 property_value: exactMatch NCIT:C62569 property_value: exactMatch Orphanet:312 [Term] id: MONDO:0007244 name: Caffey disease def: "Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described." [Orphanet:1310] subset: ordo_malformation_syndrome {source="Orphanet:1310"} synonym: "Caffey disease" EXACT [NCIT:C118423, OMIM:114000] synonym: "cortical congenital hyperostosis" EXACT [DOID:4257] synonym: "infantile cortical hyperostosis" EXACT [DOID:4257, NCIT:C118423, OMIM:114000, Orphanet:1310] xref: DOID:4257 {source="MONDO:equivalentTo"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D006958 {source="DOID:4257", source="MONDO:equivalentTo"} xref: NCIT:C118423 {source="DOID:4257", source="MONDO:equivalentTo"} xref: OMIM:114000 {source="DOID:4257", source="Orphanet:1310", source="MONDO:equivalentTo", source="Orphanet:1310/e"} xref: Orphanet:1310 {source="OMIM:114000", source="MONDO:equivalentTo"} xref: SCTID:24752008 {source="DOID:4257", source="MONDO:equivalentTo"} xref: UMLS:C0020497 {source="DOID:4257", source="OMIM:114000", source="Orphanet:1310", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0002185 {source="MESH:D006958", source="NCIT:C118423"} ! hyperostosis is_a: MONDO:0002614 {source="DOID:4257"} ! bone inflammation disease is_a: MONDO:0019702 {source="Orphanet:1310", source="PMID:31633310"} ! neonatal osteosclerotic dysplasia property_value: exactMatch DOID:4257 property_value: exactMatch http://identifiers.org/mesh/D006958 property_value: exactMatch http://identifiers.org/snomedct/24752008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020497 property_value: exactMatch https://omim.org/entry/114000 property_value: exactMatch NCIT:C118423 property_value: exactMatch Orphanet:1310 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0007245 name: cafe au lait spots, multiple def: "A cutaneous disorder characterized by the presence of several cafe-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder." [https://orcid.org/0000-0001-5208-3432, Orphanet:2678] subset: gard_rare {source="GARD:0003967"} subset: ordo_malformation_syndrome {source="Orphanet:2678"} synonym: "autosomal dominant café au lait spots" EXACT [GARD:0003967] synonym: "cafe-au-lait spots, multiple" EXACT [GARD:0001050, OMIM:114030] synonym: "familial cafe-au-lait spots" EXACT [GARD:0003967, Orphanet:267] synonym: "familial café-au-lait spots" EXACT [GARD:0003967, Orphanet:2678] synonym: "multiple cafe-au-lait spots" EXACT [GARD:0003967, Orphanet:2678] synonym: "multiple cafe-au-lait syndrome" EXACT [GARD:0003967, Orphanet:2678] synonym: "multiple café-au-lait spots" EXACT [GARD:0003967, Orphanet:2678] synonym: "multiple café-au-lait syndrome" EXACT [GARD:0003967, Orphanet:2678] synonym: "neurofibromatosis type 6" EXACT [GARD:0003967, Orphanet:2678] synonym: "NF6" EXACT ABBREVIATION [GARD:0003967, Orphanet:2678] xref: MESH:C537421 {source="MONDO:equivalentTo"} xref: OMIM:114030 {source="MONDO:equivalentTo", source="Orphanet:2678", source="GARD:0003967", source="GARD:0001050", source="Orphanet:2678/e"} xref: Orphanet:2678 {source="OMIM:114030", source="MONDO:equivalentTo", source="GARD:0003967"} xref: UMLS:C1861975 {source="OMIM:114030", source="MONDO:equivalentTo", source="Orphanet:2678", source="MONDO:ncbi_mim2gene_medline", source="GARD:0001050", source="Orphanet:2678/e"} xref: UMLS:CN035858 {source="MONDO:equivalentTo"} is_a: MONDO:0019289 {source="Orphanet:2678"} ! hyperpigmentation of the skin property_value: exactMatch http://identifiers.org/mesh/C537421 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861975 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN035858 property_value: exactMatch https://omim.org/entry/114030 property_value: exactMatch Orphanet:2678 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3967/autosomal-dominant-cafe-au-lait-spots xsd:anyURI {source="GARD:0003967"} [Term] id: MONDO:0007248 name: hereditary painful callosities def: "Hereditary painful callosities is a nummular palmoplantar keratoderma characterized by the development of painful keratotic lesions over pressure points in hands and feet. A few families have been described. Transmission is autosomal dominant. Successful analgesia can be obtained with tretinoin." [Orphanet:79141] subset: ordo_disease {source="Orphanet:79141"} synonym: "callosities, hereditary painful" RELATED [OMIM:114140] synonym: "callosities, painful plantar" RELATED [OMIM:114140] synonym: "keratosis palmoplantaris nummularis" EXACT [Orphanet:79141] synonym: "Plamoplantar hyperkeratosis nummularis" EXACT [Orphanet:79141] synonym: "Plamoplantar keratoderma nummularis" EXACT [Orphanet:79141] synonym: "PPK nummularis" EXACT [Orphanet:79141] xref: MESH:C566180 {source="MONDO:equivalentTo"} xref: OMIM:114140 {source="MONDO:equivalentTo", source="Orphanet:79141", source="Orphanet:79141/e"} xref: Orphanet:79141 {source="OMIM:114140", source="MONDO:equivalentTo"} xref: UMLS:C1861964 {source="OMIM:114140", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:79141"} is_a: MONDO:0017673 {source="Orphanet:79141"} ! isolated focal palmoplantar keratoderma property_value: exactMatch http://identifiers.org/mesh/C566180 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861964 property_value: exactMatch https://omim.org/entry/114140 property_value: exactMatch Orphanet:79141 [Term] id: MONDO:0007249 name: camptobrachydactyly def: "Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972." [Orphanet:1319] subset: gard_rare {source="GARD:0001062"} subset: ordo_malformation_syndrome {source="Orphanet:1319"} synonym: "camptobrachydactyly" EXACT [OMIM:114150] synonym: "short foot/brachydactyly of toes, camptodactyly, brachydactyly" RELATED [GARD:0001062] xref: MESH:C537967 {source="Orphanet:1319/e", source="MONDO:equivalentTo", source="Orphanet:1319"} xref: OMIM:114150 {source="Orphanet:1319/e", source="MONDO:equivalentTo", source="Orphanet:1319"} xref: Orphanet:1319 {source="MONDO:equivalentTo", source="OMIM:114150"} xref: SCTID:733045005 {source="MONDO:equivalentTo"} is_a: MONDO:0021004 {source="Orphanet:1319"} ! brachydactyly property_value: exactMatch http://identifiers.org/mesh/C537967 property_value: exactMatch http://identifiers.org/snomedct/733045005 property_value: exactMatch https://omim.org/entry/114150 property_value: exactMatch Orphanet:1319 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1062/camptobrachydactyly xsd:anyURI {source="GARD:0001062"} [Term] id: MONDO:0007250 name: camptodactyly of fingers def: "Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected." [Orphanet:295016] subset: gard_rare subset: ordo_morphological_anomaly {source="Orphanet:295016"} synonym: "CAMPD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:114200] synonym: "camptodactyly 1" RELATED [MONDO:Lexical, OMIM:114200] synonym: "camptodactyly and knuckle pads" RELATED [OMIM:114200] synonym: "crooked little finger, familial" RELATED [GARD:0009448, MESH:C536852] synonym: "familial streblodactyly" RELATED [GARD:0009448] synonym: "minor streblomicrodactyly, familial" RELATED [GARD:0009448, MESH:C536852] synonym: "streblodactyly" RELATED [OMIM:114200] xref: ICD9:755.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536852 {source="MONDO:equivalentTo"} xref: MESH:C567780 {source="MONDO:equivalentTo"} xref: OMIM:114200 {source="GARD:0009448", source="MONDO:equivalentTo", source="Orphanet:295016", source="Orphanet:295016/e"} xref: Orphanet:295016 {source="OMIM:114200", source="MONDO:equivalentTo"} xref: SCTID:29271008 {source="MONDO:equivalentTo"} is_a: MONDO:0017428 {source="Orphanet:295016"} ! congenital deformities of fingers property_value: exactMatch http://identifiers.org/mesh/C536852 property_value: exactMatch http://identifiers.org/mesh/C567780 property_value: exactMatch http://identifiers.org/snomedct/29271008 property_value: exactMatch https://omim.org/entry/114200 property_value: exactMatch Orphanet:295016 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9448/familial-streblodactyly xsd:anyURI {source="GARD:0009448"} [Term] id: MONDO:0007251 name: campomelic dysplasia def: "Campomelic dysplasia is a very rare disorder characterized by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations)." [Orphanet:140] comment: Editor note: consider adding grouping class for related disorders subset: ordo_malformation_syndrome {source="Orphanet:140"} synonym: "acampomelic campomelic dysplasia" NARROW [DOID:0050463, OMIM:114290] synonym: "acampomelic campomelic dysplasia with autosomal Sex reversal" RELATED [OMIM:114290] synonym: "campomelic dwarfism" EXACT [Orphanet:140] synonym: "campomelic dysplasia" EXACT [OMIM:114290] synonym: "campomelic dysplasia with autosomal Sex reversal" RELATED [OMIM:114290] synonym: "camptomelic dysplasia" RELATED [OMIM:114290] synonym: "CMD" EXACT ABBREVIATION [NCIT:C84609] synonym: "Cmd1" RELATED [OMIM:114290] synonym: "Cmpd" RELATED [OMIM:114290] synonym: "CMPD1" RELATED ABBREVIATION [GARD:0010027] synonym: "Cmpd1/Sra1" RELATED [OMIM:114290] xref: DOID:0050463 {source="MONDO:equivalentTo"} xref: ICD9:733.29 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D055036 {source="DOID:0050463", source="MONDO:equivalentTo", source="Orphanet:140", source="Orphanet:140/e"} xref: NCIT:C84609 {source="DOID:0050463", source="MONDO:equivalentTo"} xref: OMIM:114290 {source="DOID:0050463", source="MONDO:equivalentTo", source="Orphanet:140", source="Orphanet:140/e"} xref: Orphanet:140 {source="MONDO:equivalentTo", source="OMIM:114290"} xref: SCTID:74928006 {source="DOID:0050463", source="MONDO:equivalentTo"} xref: UMLS:C1861922 {source="DOID:0050463", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C84609", source="Orphanet:140", source="OMIM:114290", source="Orphanet:140/e"} xref: UMLS:C1861923 {source="DOID:0050463", source="MONDO:equivalentTo", source="OMIM:114290"} is_a: EFO:0001379 ! endocrine system disease is_a: EFO:0005571 {source="DOID:0050463"} ! osteochondrodysplasia is_a: MONDO:0015160 {source="Orphanet:140"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0019698 {source="Orphanet:140", source="PMID:31633310"} ! bent bone dysplasia property_value: exactMatch DOID:0050463 property_value: exactMatch http://identifiers.org/mesh/D055036 property_value: exactMatch http://identifiers.org/snomedct/74928006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861922 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861923 property_value: exactMatch https://omim.org/entry/114290 property_value: exactMatch NCIT:C84609 property_value: exactMatch Orphanet:140 property_value: excluded_subClassOf MONDO:0020040 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0007252 name: Gordon syndrome def: "An extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition." [https://orcid.org/0000-0001-5208-3432, Orphanet:376] subset: gard_rare {source="GARD:0002553"} subset: ordo_malformation_syndrome {source="Orphanet:376"} synonym: "arthrogryposis distal type 3" RELATED [GARD:0002553] synonym: "arthrogryposis multiplex congenita, distal, type 2A" RELATED [OMIM:114300] synonym: "arthrogryposis, distal, type 3" RELATED [MONDO:Lexical, OMIM:114300] synonym: "camptodactyly, cleft palate, and clubfoot" RELATED [OMIM:114300] synonym: "camptodactyly-cleft palate-clubfoot syndrome" EXACT [Orphanet:376] synonym: "DA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:114300] synonym: "distal arthrogryposis type 3" EXACT [Orphanet:376] synonym: "distal arthrogryposis type IIA" EXACT [Orphanet:376] synonym: "Gordon syndrome" EXACT [OMIM:114300] xref: DOID:0111607 {source="MONDO:equivalentTo"} xref: ICD9:579.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537288 {source="Orphanet:376/e", source="MONDO:equivalentTo", source="Orphanet:376"} xref: OMIM:114300 {source="Orphanet:376/e", source="MONDO:equivalentTo", source="Orphanet:376"} xref: Orphanet:376 {source="MONDO:equivalentTo", source="OMIM:114300"} xref: SCTID:237850008 {source="MONDO:equivalentTo"} xref: UMLS:C0220666 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:114300", source="Orphanet:376"} is_a: MONDO:0015161 {source="Orphanet:376"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0019942 {source="DC-OMIM:114300", source="Orphanet:376"} ! distal arthrogryposis property_value: exactMatch DOID:0111607 property_value: exactMatch http://identifiers.org/mesh/C537288 property_value: exactMatch http://identifiers.org/snomedct/237850008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220666 property_value: exactMatch https://omim.org/entry/114300 property_value: exactMatch Orphanet:376 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2553/gordon-syndrome xsd:anyURI {source="GARD:0002553"} [Term] id: MONDO:0007254 name: breast cancer def: "A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males." [NCIT:C9335] synonym: "BC" EXACT [] synonym: "breast cancer" EXACT [MONDO:patterns/location] synonym: "breast tumor" BROAD [DOID:1612, NCIT:C2910] synonym: "breast tumour" BROAD OMO:0003005 [] synonym: "cancer of breast" EXACT [MONDO:patterns/cancer] synonym: "malignant breast neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9335] synonym: "malignant breast tumor" EXACT [NCIT:C9335] synonym: "malignant breast tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of breast" EXACT [DOID:1612, MONDO:patterns/cancer, NCIT:C9335] synonym: "malignant neoplasm of the breast" EXACT [NCIT:C9335] synonym: "malignant tumor of breast" EXACT [NCIT:C9335] synonym: "malignant tumor of the breast" EXACT [DOID:1612, NCIT:C9335] synonym: "malignant tumour of breast" EXACT OMO:0003005 [] synonym: "malignant tumour of the breast" EXACT OMO:0003005 [] synonym: "mammary cancer" EXACT [DOID:1612] synonym: "mammary neoplasm" RELATED [DOID:1612] synonym: "mammary tumor" BROAD [DOID:1612] synonym: "mammary tumour" BROAD OMO:0003005 [] synonym: "primary breast cancer" NARROW [DOID:1612] xref: DOID:1612 {source="MONDO:equivalentTo"} xref: ICD10CM:C50 {source="MONDO:equivalentTo", source="DOID:1612"} xref: ICD9:174.8 {source="DOID:1612"} xref: NCIT:C9335 {source="MONDO:equivalentTo", source="DOID:1612"} xref: SCTID:254837009 {source="MONDO:equivalentTo", source="DOID:1612"} is_a: EFO:0003869 {source="MONDO:Redundant", source="NCIT:C9335"} ! breast neoplasm is_a: MONDO:0003274 {source="DOID:1612", source="MONDO:Redundant"} ! thoracic cancer property_value: exactMatch DOID:1612 property_value: exactMatch http://identifiers.org/snomedct/254837009 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/C50 property_value: exactMatch NCIT:C9335 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0007259 name: craniofaciofrontodigital syndrome def: "Craniofaciofrontodigital is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies)." [Orphanet:363705] subset: ordo_disease {source="Orphanet:363705"} synonym: "Cantu craniofaciofrontodigital syndrome" EXACT [OMIM:114620, Orphanet:363705] synonym: "craniofaciofrontodigital syndrome" EXACT [OMIM:114620] xref: MESH:C567298 {source="MONDO:equivalentTo"} xref: OMIM:114620 {source="Orphanet:363705/e", source="MONDO:equivalentTo", source="Orphanet:363705"} xref: Orphanet:363705 {source="MONDO:equivalentTo", source="OMIM:114620"} xref: SCTID:763320005 {source="MONDO:equivalentTo"} xref: UMLS:C2676032 {source="MONDO:equivalentTo", source="OMIM:114620", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:363705"} is_a: MONDO:0015159 {source="Orphanet:363705"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0100237 {source="Orphanet:363705"} ! inherited cutis laxa property_value: exactMatch http://identifiers.org/mesh/C567298 property_value: exactMatch http://identifiers.org/snomedct/763320005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676032 property_value: exactMatch https://omim.org/entry/114620 property_value: exactMatch Orphanet:363705 [Term] id: MONDO:0007263 name: cardiac rhythm disease def: "Any variation from the normal rate or rhythm (which may include the origin of the impulse and/or its subsequent propagation) in the heart." [NCIT:P378] synonym: "arrhythmia" EXACT [NCIT:C2881] xref: EFO:0004269 {source="MONDO:equivalentTo"} xref: ICD9:427.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C2881 {source="EFO:0004269", source="MONDO:equivalentTo"} xref: SCTID:698247007 {source="EFO:0004269", source="MONDO:equivalentTo"} is_a: EFO:0003777 ! heart disease property_value: exactMatch http://identifiers.org/snomedct/698247007 property_value: exactMatch NCIT:C2881 [Term] id: MONDO:0007266 name: hypertrophic cardiomyopathy 2 def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "cardiomyopathy familial hypertrophic 2" EXACT [DOID:0110308] synonym: "cardiomyopathy, familial hypertrophic, 2" RELATED [MONDO:Lexical, OMIM:115195] synonym: "cardiomyopathy, familial hypertrophic, type 2" EXACT [MONDORULE:1, OMIM:115195] synonym: "cardiomyopathy, hypertrophic, 2" EXACT [OMIM:115195, OMIM:genemap2] synonym: "CMH2" EXACT ABBREVIATION [DOID:0110308, MONDO:Lexical, OMIM:115195] synonym: "familial hypertrophic cardiomyopathy type 2" EXACT [NCIT:C142892] synonym: "hypertrophic cardiomyopathy 2" EXACT [] synonym: "hypertrophic cardiomyopathy caused by mutation in TNNT2" EXACT [MONDO:design_pattern] synonym: "hypertrophic cardiomyopathy type 2" EXACT [DOID:0110308, MONDORULE:1] synonym: "TNNT2 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110308 {source="MONDO:equivalentTo"} xref: MESH:C566171 {source="MONDO:equivalentTo"} xref: NCIT:C142892 {source="MONDO:equivalentTo"} xref: OMIM:115195 {source="MONDO:equivalentTo", source="DOID:0110308"} xref: UMLS:C1861864 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:115195"} is_a: MONDO:0024573 {source="MESH:C566171", source="MONDO:OMIM", source="NCIT:C142892", source="OMIM:115195"} ! familial hypertrophic cardiomyopathy property_value: exactMatch DOID:0110308 property_value: exactMatch http://identifiers.org/mesh/C566171 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861864 property_value: exactMatch https://omim.org/entry/115195 property_value: exactMatch NCIT:C142892 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007268 name: hypertrophic cardiomyopathy 4 def: "An autosomal dominant condition caused by mutation(s) in the MYBPC3 gene, encoding MYBPC3 protein. It is characterized by severe neonatal hypertrophic cardiomyopathy." [NCIT:C133725] synonym: "cardiomyopathy, familial hypertrophic, 4" EXACT [DOID:0110310, MONDO:Lexical, OMIM:115197] synonym: "cardiomyopathy, familial hypertrophic, 4, susceptibility to" RELATED [OMIM:115197] synonym: "cardiomyopathy, familial hypertrophic, type 4" EXACT [MONDORULE:1, OMIM:115197] synonym: "cardiomyopathy, hypertrophic, 4" EXACT [OMIM:115197, OMIM:genemap2] synonym: "CMH4" EXACT ABBREVIATION [DOID:0110310, MONDO:Lexical, OMIM:115197] synonym: "familial hypertrophic cardiomyopathy type 4" EXACT [NCIT:C133725] synonym: "hypertrophic cardiomyopathy 4" EXACT [] synonym: "hypertrophic cardiomyopathy caused by mutation in MYBPC3" EXACT [MONDO:design_pattern] synonym: "hypertrophic cardiomyopathy type 4" EXACT [DOID:0110310, MONDORULE:1] synonym: "MYBPC3 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110310 {source="MONDO:equivalentTo"} xref: MESH:C566169 {source="MONDO:equivalentTo"} xref: NCIT:C133725 {source="MONDO:equivalentTo"} xref: OMIM:115197 {source="MONDO:equivalentTo", source="DOID:0110310"} xref: UMLS:C1861862 {source="OMIM:115197", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0024573 {source="MESH:C566169", source="MONDO:OMIM", source="NCIT:C133725", source="OMIM:115197"} ! familial hypertrophic cardiomyopathy property_value: exactMatch DOID:0110310 property_value: exactMatch http://identifiers.org/mesh/C566169 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861862 property_value: exactMatch https://omim.org/entry/115197 property_value: exactMatch NCIT:C133725 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007269 name: dilated cardiomyopathy 1A def: "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." [Orphanet:300751] subset: gard_rare subset: ordo_disease {source="Orphanet:300751"} synonym: "cardiomyopathy dilated with conduction defect type 1" EXACT [MONDO:0022651] synonym: "cardiomyopathy, congestive" RELATED [OMIM:115200] synonym: "cardiomyopathy, dilated, 1A" RELATED [MONDO:Lexical, OMIM:115200] synonym: "cardiomyopathy, dilated, type 1A" EXACT [MONDORULE:4, OMIM:115200] synonym: "cardiomyopathy, dilated, with conduction defect 1" RELATED [OMIM:115200] synonym: "cardiomyopathy, familial idiopathic" RELATED [OMIM:115200] synonym: "cardiomyopathy, idiopathic dilated" RELATED [OMIM:115200] synonym: "CDCD1" EXACT ABBREVIATION [DOID:0110425] synonym: "dilated cardiomyopathy 1A" EXACT [] synonym: "dilated cardiomyopathy type 1A" EXACT [DOID:0110425, MONDORULE:4] synonym: "dilated cardiomyopathy with conduction defect 1" EXACT [DOID:0110425] synonym: "familial dilated cardiomyopathy with conduction defect due to LMNA mutation" EXACT [DOID:0110425] synonym: "familial isolated dilated cardiomyopathy caused by mutation in LMNA" EXACT [MONDO:design_pattern] synonym: "LMNA familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110425 {source="MONDO:equivalentTo"} xref: OMIM:115200 {source="DOID:0110425", source="Orphanet:300751", source="MONDO:equivalentTo", source="Orphanet:300751/e"} xref: Orphanet:300751 {source="DOID:0110425", source="OMIM:115200", source="MONDO:equivalentTo"} xref: SCTID:766883006 {source="MONDO:equivalentTo"} xref: UMLS:C1449563 {source="OMIM:115200", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease is_a: MONDO:0015470 {source="MONDO:Redundant"} ! familial isolated dilated cardiomyopathy relationship: disease_has_feature EFO:0000318 ! cardiomyopathy property_value: exactMatch DOID:0110425 property_value: exactMatch http://identifiers.org/snomedct/766883006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1449563 property_value: exactMatch https://omim.org/entry/115200 property_value: exactMatch Orphanet:300751 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1104/cardiomyopathy-dilated-with-conduction-defect-type-1 xsd:anyURI {source="GARD:0001104"} [Term] id: MONDO:0007271 name: familial cutaneous collagenoma def: "Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission." [Orphanet:53296] subset: gard_rare {source="GARD:0009799"} subset: ordo_disease {source="Orphanet:53296"} synonym: "collagenoma, familial cutaneous" RELATED [OMIM:115250] xref: MESH:C562925 {source="MONDO:equivalentTo"} xref: OMIM:115250 {source="Orphanet:53296/e", source="MONDO:equivalentTo", source="Orphanet:53296"} xref: Orphanet:53296 {source="MONDO:equivalentTo", source="OMIM:115250"} xref: SCTID:239139000 {source="MONDO:equivalentTo"} xref: UMLS:C0406817 {source="Orphanet:53296/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:53296", source="OMIM:115250"} is_a: MONDO:0019292 {source="Orphanet:53296", source="Orphanet:53296/inferred"} ! dermis elastic tissue disorder property_value: exactMatch http://identifiers.org/mesh/C562925 property_value: exactMatch http://identifiers.org/snomedct/239139000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406817 property_value: exactMatch https://omim.org/entry/115250 property_value: exactMatch Orphanet:53296 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9799/familial-cutaneous-collagenoma xsd:anyURI {source="GARD:0009799"} [Term] id: MONDO:0007272 name: hereditary hypercarotenemia and vitamin A deficiency def: "Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date." [Orphanet:199285] subset: ordo_disease {source="Orphanet:199285"} synonym: "Carotenoids, plasma level of, quantitative trait locus 1" RELATED [OMIM:115300] synonym: "HCVAD" RELATED ABBREVIATION [OMIM:115300] synonym: "hypercarotenemia and vitamin A deficiency, autosomal dominant" RELATED [OMIM:115300] xref: MESH:C567296 {source="MONDO:equivalentTo"} xref: OMIM:115300 {source="Orphanet:199285", source="MONDO:equivalentTo", source="Orphanet:199285/e"} xref: Orphanet:199285 {source="OMIM:115300", source="MONDO:equivalentTo"} xref: SCTID:726079008 {source="MONDO:equivalentTo"} is_a: MONDO:0017760 {source="Orphanet:199285"} ! disorder of other vitamins and cofactors metabolism and transport property_value: exactMatch http://identifiers.org/mesh/C567296 property_value: exactMatch http://identifiers.org/snomedct/726079008 property_value: exactMatch https://omim.org/entry/115300 property_value: exactMatch Orphanet:199285 [Term] id: MONDO:0007276 name: cat-eye syndrome def: "Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal." [Orphanet:195] subset: gard_rare {source="GARD:0000026"} subset: ordo_malformation_syndrome {source="Orphanet:195"} synonym: "CAT eye syndrome" RELATED [MONDO:Lexical, OMIM:115470] synonym: "cat-eye syndrome (Type I)" EXACT [DECIPHER:42] synonym: "CES" EXACT ABBREVIATION [MONDO:Lexical, OMIM:115470, Orphanet:195] synonym: "chromosome 22 partial tetrasomy" RELATED [OMIM:115470] synonym: "Inv dup(22)(q11)" RELATED [OMIM:115470] synonym: "Schmid-Fraccaro syndrome" RELATED [OMIM:115470] xref: DECIPHER:42 {source="MONDO:equivalentTo"} xref: MESH:C535918 {source="MONDO:equivalentTo", source="Orphanet:195", source="Orphanet:195/e"} xref: NCIT:C75477 {source="MONDO:equivalentTo"} xref: OMIM:115470 {source="MONDO:equivalentTo", source="Orphanet:195", source="Orphanet:195/e"} xref: Orphanet:195 {source="MONDO:equivalentTo", source="OMIM:115470"} xref: SCTID:26445008 {source="MONDO:equivalentTo"} xref: UMLS:C0265493 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:195", source="NCIT:C75477", source="OMIM:115470", source="Orphanet:195/e"} is_a: MONDO:0015246 {source="Orphanet:195"} ! syndromic anorectal malformation is_a: MONDO:0015368 ! neuro-ophthalmological disease property_value: exactMatch http://identifiers.org/mesh/C535918 property_value: exactMatch http://identifiers.org/snomedct/26445008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265493 property_value: exactMatch https://omim.org/entry/115470 property_value: exactMatch NCIT:C75477 property_value: exactMatch Orphanet:195 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/26/cat-eye-syndrome xsd:anyURI {source="GARD:0000026"} [Term] id: MONDO:0007277 name: cataract-aberrant oral frenula-growth delay syndrome def: "Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait." [Orphanet:1373] subset: ordo_malformation_syndrome {source="Orphanet:1373"} synonym: "cataract, aberrant oral frenula, and growth retardation" RELATED [OMIM:115645] synonym: "cataracts, aberrant oral frenula, and growth retardation" RELATED [GARD:0005554] synonym: "Wellesley Carmen French syndrome" RELATED [GARD:0005554] synonym: "Wellesley-Carman-French syndrome" EXACT [Orphanet:1373] xref: MESH:C536691 {source="MONDO:equivalentTo"} xref: OMIM:115645 {source="Orphanet:1373", source="MONDO:equivalentTo", source="Orphanet:1373/e"} xref: Orphanet:1373 {source="MONDO:equivalentTo", source="OMIM:115645"} xref: SCTID:715988005 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0015161 {source="Orphanet:1373"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability property_value: exactMatch http://identifiers.org/mesh/C536691 property_value: exactMatch http://identifiers.org/snomedct/715988005 property_value: exactMatch https://omim.org/entry/115645 property_value: exactMatch Orphanet:1373 [Term] id: MONDO:0007280 name: cataract 8 multiple types def: "A cataract that has material basis in variation in the region 1pter-p36.13." [DOID:0110228, PMID:7607651] synonym: "cataract 8, multiple types" RELATED [MONDO:Lexical, OMIM:115665] synonym: "cataract congenital Volkmann type" RELATED [GARD:0001146] synonym: "cataract, congenital, Volkmann type" EXACT [DOID:0110228, OMIM:115665] synonym: "CTRCT8" EXACT ABBREVIATION [DOID:0110228, MONDO:Lexical, OMIM:115665] xref: DOID:0110228 {source="MONDO:equivalentTo"} xref: MESH:C538285 {source="MONDO:equivalentTo"} xref: OMIM:115665 {source="DOID:0110228", source="MONDO:equivalentTo"} xref: Orphanet:98983 {source="MONDO:equivalentObsolete", source="OMIM:115665"} xref: UMLS:C1861833 {source="MONDO:equivalentTo", source="OMIM:115665", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0011060 {source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract property_value: exactMatch DOID:0110228 property_value: exactMatch http://identifiers.org/mesh/C538285 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861833 property_value: exactMatch https://omim.org/entry/115665 [Term] id: MONDO:0007289 name: cataract 13 with adult I phenotype def: "A cataract that has material basis in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24." [DOID:0110242, PMID:11739194] comment: Not in the OMIM series. {source="OMIM:116700"} synonym: "cataract 13 with ADULT I phenotype" RELATED [OMIM:116700] synonym: "cataract 13 with adult I phenotype" EXACT [MONDO:Lexical, OMIM:116700] synonym: "CTRCT13" EXACT ABBREVIATION [DOID:0110242, MONDO:Lexical, OMIM:116700] xref: DOID:0110242 {source="MONDO:equivalentTo"} xref: OMIM:116700 {source="MONDO:equivalentTo", source="DOID:0110242"} xref: UMLS:C3805373 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0011060 {source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract property_value: exactMatch DOID:0110242 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3805373 property_value: exactMatch https://omim.org/entry/116700 [Term] id: MONDO:0007290 name: cataract 5 multiple types def: "Any cataract (disease) in which the cause of the disease is a mutation in the HSF4 gene." [MONDO:patterns/disease_series_by_gene] synonym: "cataract (disease) caused by mutation in HSF4" EXACT [] synonym: "cataract 5, multiple types" RELATED [MONDO:Lexical, OMIM:116800] synonym: "cataract, lamellar" RELATED [OMIM:116800] synonym: "cataract, Marner type" RELATED [OMIM:116800] synonym: "CTRCT5" EXACT ABBREVIATION [DOID:0110255, MONDO:Lexical, OMIM:116800] synonym: "HSF4 cataract (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0110255 {source="MONDO:equivalentTo"} xref: MESH:C535342 {source="MONDO:equivalentTo"} xref: OMIM:116800 {source="MONDO:equivalentTo", source="DOID:0110255"} xref: Orphanet:98995 {source="MONDO:relatedTo", source="OMIM:116800"} is_a: MONDO:0011060 {source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract property_value: exactMatch DOID:0110255 property_value: exactMatch http://identifiers.org/mesh/C535342 property_value: exactMatch https://omim.org/entry/116800 [Term] id: MONDO:0007291 name: obsolete familial cerebral cavernous malformation property_value: IAO:0000231 IAO:0000229 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2940 xsd:anyURI is_obsolete: true replaced_by: MONDO:0031037 [Term] id: MONDO:0007293 name: leukocyte adhesion deficiency 1 def: "Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD characterized by life-threatening, recurrent bacterial infections." [Orphanet:99842] subset: ordo_clinical_subtype {source="Orphanet:99842"} synonym: "ITGB2 leukocyte adhesion deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "lad" RELATED [MONDO:Lexical, OMIM:116920] synonym: "lad 1" RELATED [GARD:0006893] synonym: "lad-I" EXACT [Orphanet:99842] synonym: "lad-type I" EXACT [NCIT:C4689] synonym: "LAD1" EXACT ABBREVIATION [DOID:0110910] synonym: "Lad1" RELATED [OMIM:116920] synonym: "leukocyte adhesion deficiency" BROAD [OMIM:116920, OMIM:genemap2] synonym: "leukocyte adhesion deficiency 1" EXACT [] synonym: "leukocyte adhesion deficiency caused by mutation in ITGB2" EXACT [MONDO:design_pattern] synonym: "leukocyte adhesion deficiency type 1" EXACT [DOID:0110910, MONDORULE:1] synonym: "leukocyte adhesion deficiency type I" EXACT [DOID:0110910] synonym: "leukocyte adhesion deficiency, type 1" RELATED [OMIM:116920] synonym: "leukocyte adhesion deficiency, type I" RELATED [MONDO:Lexical, OMIM:116920] synonym: "LFA 1 immunodeficiency" RELATED [GARD:0006893] synonym: "LFA-I deficiency" EXACT [NCIT:C4689] synonym: "LFA1 immunodeficiency" EXACT [DOID:0110910] synonym: "Lfa1 immunodeficiency" RELATED [OMIM:116920] synonym: "lymphocyte function-associated antigen 1 immunodeficiency" EXACT [DOID:0110910, OMIM:116920] xref: DOID:0110910 {source="MONDO:equivalentTo"} xref: MESH:C535887 {source="Orphanet:99842", source="MONDO:equivalentTo", source="Orphanet:99842/e"} xref: NCIT:C4689 {source="MONDO:equivalentTo"} xref: OMIM:116920 {source="DOID:0110910", source="Orphanet:99842", source="MONDO:equivalentTo", source="Orphanet:99842/e"} xref: Orphanet:99842 {source="DOID:0110910", source="MONDO:equivalentTo", source="OMIM:116920"} xref: SCTID:234582006 {source="MONDO:equivalentTo"} xref: UMLS:C0398738 {source="Orphanet:99842", source="MONDO:equivalentTo", source="OMIM:116920", source="Orphanet:99842/e", source="NCIT:C4689"} is_a: MONDO:0017570 {source="DOID:0110910", source="MONDO:Redundant", source="NCIT:C4689", source="Orphanet:99842"} ! leukocyte adhesion deficiency property_value: exactMatch DOID:0110910 property_value: exactMatch http://identifiers.org/mesh/C535887 property_value: exactMatch http://identifiers.org/snomedct/234582006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398738 property_value: exactMatch https://omim.org/entry/116920 property_value: exactMatch NCIT:C4689 property_value: exactMatch Orphanet:99842 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007295 name: childhood epilepsy with centrotemporal spikes def: "A childhood-onset epilepsy syndrom that is characterized by onset of seizures between 3 and 14 years (peak 8-9 years) that usually resolve by age 13 years, but can occasionally occur up to age 18 years of age. Both sexes are affected. Antecedent, birth and neonatal history is normal. A history of febrile seizure (in 5-15%) may be seen. A history of Panayiotopoulos syndrome may be present in a very small number of cases. Neurological exam and head size is normal. Development and cognition prior to onset of seizures is normal. During the course of the active epilepsy, behavioral and neuropsychological deficits may be found, particularly in language and executive functioning. These deficits improve when seizures remit." [https://epilepsydiagnosis.org/syndrome/ects-overview.html] comment: Childhood epilepsy with centrotemporal spikes, atypical childhood epilepsy with centrotemporal spikes, epileptic encephalopathy with continuous spike-and-wave during sleep and Landau Kleffner syndrome are syndromes that have in common certain EEG features, with variable severity of focal seizures and neurocognitive impairment. They may be considered as a spectrum, an individual child may transition from one of these syndromes to another over time. subset: gard_rare subset: ordo_disease {source="Orphanet:1945"} synonym: "BCECTS" EXACT DEPRECATED [DOID:3329, Wikipedia:Rolandic_epilepsy] synonym: "BECRS" EXACT ABBREVIATION [Orphanet:1945] synonym: "BECTS" EXACT DEPRECATED [Orphanet:1945] synonym: "benign childhood epilepsy with centrotemporal spike" EXACT DEPRECATED [DOID:3329] synonym: "benign childhood epilepsy with centrotemporal spikes" EXACT DEPRECATED [NCIT:C116538] synonym: "benign epilepsy of childhood with centrotemporal spikes" EXACT DEPRECATED [Orphanet:1945] synonym: "benign epilepsy of childhood with centrotemporal spikes (BECCT)" RELATED DEPRECATED [GARD:0010287] synonym: "benign epilepsy with centro-temporal spikes (BECTS)" RELATED DEPRECATED [GARD:0010287] synonym: "benign epilepsy with centrotemporal spikes" EXACT DEPRECATED [MONDO:0002611] synonym: "benign familial epilepsy of childhood with rolandic spikes" EXACT DEPRECATED [Orphanet:1945] synonym: "benign Rolandic epilepsy" EXACT DEPRECATED [DOID:3329, OMIM:117100, Orphanet:1945] synonym: "benign Rolandic epilepsy (BRE)" EXACT DEPRECATED [GARD:0010287] synonym: "benign Rolandic epilepsy of childhood (BREC)" EXACT DEPRECATED [GARD:0010287] synonym: "BRE" EXACT DEPRECATED [Orphanet:1945] synonym: "centralopathic epilepsy" EXACT [OMIM:117100] synonym: "centrotemporal epilepsy" EXACT [OMIM:117100, Orphanet:1945] synonym: "centrotemporal epilepsy, isolated cases" EXACT [OMIM:117100, OMIM:genemap2] synonym: "Rolandic epilepsy" EXACT DEPRECATED [DOID:3329] synonym: "sylvan seizures" EXACT [DOID:3329] synonym: "temporal-central focal epilepsy" EXACT [OMIM:117100] xref: DOID:3329 {source="MONDO:equivalentTo"} xref: ICD9:345.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C116538 {source="MONDO:equivalentTo"} xref: OMIM:117100 {source="Orphanet:1945/e", source="GARD:0010287", source="MONDO:equivalentTo", source="Orphanet:1945"} xref: Orphanet:1945 {source="OMIM:117100", source="MONDO:equivalentTo"} xref: SCTID:44145005 {source="MONDO:equivalentTo"} xref: UMLS:C0376532 {source="MONDO:equivalentTo", source="Orphanet:1945", source="DOID:3329"} xref: UMLS:C2363129 {source="OMIM:117100", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1945", source="NCIT:C116538"} xref: UMLS:CN200685 {source="MONDO:equivalentObsolete"} is_a: MONDO:0000414 {source="DOID:3329", source="MONDO:Redundant", source="MONDO:indirect"} ! childhood electroclinical syndrome is_a: MONDO:0017704 {source="Orphanet:1945"} ! familial partial epilepsy property_value: exactMatch DOID:3329 property_value: exactMatch http://identifiers.org/snomedct/44145005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0376532 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2363129 property_value: exactMatch https://omim.org/entry/117100 property_value: exactMatch NCIT:C116538 property_value: exactMatch Orphanet:1945 property_value: excluded_subClassOf MONDO:0002254 property_value: excluded_subClassOf MONDO:0005027 {source="DOID:3329/inferred", source="NCIT:C116538"} property_value: excluded_subClassOf MONDO:0009509 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2545 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://epilepsydiagnosis.org/syndrome/ects-overview.html xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10287/benign-rolandic-epilepsy-bre xsd:anyURI {source="GARD:0010287"} [Term] id: MONDO:0007296 name: spinocerebellar ataxia type 31 def: "Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties." [Orphanet:217012] subset: ordo_disease {source="Orphanet:217012"} synonym: "SCA31" EXACT ABBREVIATION [MONDO:Lexical, OMIM:117210, Orphanet:217012] synonym: "spinocerebellar ataxia 16q22-linked" RELATED [GARD:0009975] synonym: "spinocerebellar ataxia 31" RELATED [MONDO:Lexical, OMIM:117210] synonym: "spinocerebellar ataxia type 31" EXACT [MONDORULE:2, OMIM:117210] synonym: "spinocerebellar ataxia, 16Q22-linked" RELATED [OMIM:117210] xref: DOID:0050980 {source="MONDO:equivalentTo"} xref: MESH:C566146 {source="MONDO:equivalentTo"} xref: NCIT:C176901 {source="MONDO:equivalentTo"} xref: OMIM:117210 {source="DOID:0050980", source="Orphanet:217012/e", source="MONDO:equivalentTo", source="Orphanet:217012"} xref: Orphanet:217012 {source="OMIM:117210", source="MONDO:equivalentTo"} xref: SCTID:715826005 {source="MONDO:equivalentTo"} xref: UMLS:C1861736 {source="OMIM:117210", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:217012"} xref: UMLS:C4274986 {source="MONDO:equivalentObsolete"} is_a: MONDO:0019793 {source="Orphanet:217012"} ! autosomal dominant cerebellar ataxia type III property_value: exactMatch DOID:0050980 property_value: exactMatch http://identifiers.org/mesh/C566146 property_value: exactMatch http://identifiers.org/snomedct/715826005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861736 property_value: exactMatch https://omim.org/entry/117210 property_value: exactMatch NCIT:C176901 property_value: exactMatch Orphanet:217012 [Term] id: MONDO:0007297 name: ADan amyloidosis def: "A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2." [DOID:0070030] subset: ordo_clinical_subtype {source="Orphanet:97346"} synonym: "cerebellar ataxia, cataract, deafness, and dementia Or psychosis" EXACT [DOID:0070030] synonym: "cerebellar ataxia, cataract, deafness, and dementia or psychosis" RELATED [OMIM:117300] synonym: "cerebral amyloid angiopathy, ITM2B-RELATED, 2" RELATED [OMIM:117300] synonym: "cerebral amyloid angiopathy, ITM2B-related, type 2" EXACT [MONDORULE:1, OMIM:117300] synonym: "dementia, familial Danish" RELATED [OMIM:117300] synonym: "familial Danish dementia" EXACT [DOID:0070030, OMIM:117300] synonym: "familial dementia, Danish type" EXACT [Orphanet:97346] synonym: "FDD" EXACT ABBREVIATION [DOID:0070030] synonym: "Heredopathia Ophthalmootoencephalica" EXACT [DOID:0070030, OMIM:117300] synonym: "HOOE" EXACT ABBREVIATION [DOID:0070030] synonym: "ITM2B-related cerebral amyloid angiopathy 2" RELATED [DOID:0070030] xref: DOID:0070030 {source="MONDO:equivalentTo"} xref: ICD10EXP:E85.4+ {source="Orphanet:97346", source="Orphanet:97346/attributed", source="Orphanet:97346/ntbt"} xref: ICD10EXP:I68.0* {source="Orphanet:97346", source="Orphanet:97346/attributed", source="Orphanet:97346/ntbt"} xref: MESH:C538209 {source="Orphanet:97346", source="MONDO:equivalentTo", source="Orphanet:97346/e"} xref: OMIM:117300 {source="Orphanet:97346", source="MONDO:equivalentTo", source="Orphanet:97346/e", source="DOID:0070030"} xref: Orphanet:97346 {source="OMIM:117300", source="MONDO:equivalentTo"} xref: UMLS:C1861735 {source="OMIM:117300", source="Orphanet:97346", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:97346/e"} is_a: EFO:0006790 {source="DC-OMIM:117300", source="DOID:0070030"} ! cerebral amyloid angiopathy is_a: MONDO:0018591 {source="Orphanet:97346"} ! ITM2B amyloidosis property_value: exactMatch DOID:0070030 property_value: exactMatch http://identifiers.org/mesh/C538209 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861735 property_value: exactMatch https://omim.org/entry/117300 property_value: exactMatch Orphanet:97346 [Term] id: MONDO:0007298 name: spinocerebellar ataxia type 29 def: "Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability." [Orphanet:208513] subset: ordo_disease {source="Orphanet:208513"} synonym: "ACV" RELATED ABBREVIATION [GARD:0010480] synonym: "aplasia of cerebellar vermis" RELATED [OMIM:117360] synonym: "cerebellar ataxia early-onset nonprogressive" RELATED [GARD:0010480] synonym: "cerebellar ataxia, congenital nonprogressive, autosomal dominant" RELATED [OMIM:117360] synonym: "cerebellar vermis aplasia" RELATED [OMIM:117360] synonym: "congenital nonprogressive spinocerebellar ataxia" EXACT [Orphanet:208513] synonym: "SCA29" EXACT ABBREVIATION [MONDO:Lexical, OMIM:117360, Orphanet:208513] synonym: "spinocerebellar ataxia 29" RELATED [MONDO:Lexical, OMIM:117360] synonym: "spinocerebellar ataxia 29, congenital nonprogressive" EXACT [OMIM:117360, OMIM:genemap2] synonym: "spinocerebellar ataxia type 29" EXACT [MONDORULE:2, OMIM:117360] xref: DOID:0050978 {source="MONDO:equivalentTo"} xref: MESH:C537206 {source="MONDO:equivalentTo"} xref: OMIM:117360 {source="Orphanet:208513/e", source="MONDO:equivalentTo", source="DOID:0050978", source="Orphanet:208513"} xref: Orphanet:208513 {source="MONDO:equivalentTo", source="OMIM:117360"} xref: SCTID:715825009 {source="MONDO:equivalentTo"} xref: UMLS:C1861732 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:117360", source="Orphanet:208513"} xref: UMLS:C4274987 {source="MONDO:equivalentObsolete"} is_a: MONDO:0019792 {source="Orphanet:208513"} ! autosomal dominant cerebellar ataxia type I property_value: exactMatch DOID:0050978 property_value: exactMatch http://identifiers.org/mesh/C537206 property_value: exactMatch http://identifiers.org/snomedct/715825009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861732 property_value: exactMatch https://omim.org/entry/117360 property_value: exactMatch Orphanet:208513 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007301 name: cerebrocostomandibular syndrome def: "Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis." [Orphanet:1393] subset: ordo_malformation_syndrome {source="Orphanet:1393"} synonym: "CCM syndrome" RELATED [GARD:0006026] synonym: "CCMS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:117650] synonym: "cerebro-costo-mandibular syndrome" RELATED [GARD:0006026] synonym: "CEREBROCOSTOMANDIBULAR syndrome" RELATED [OMIM:117650] synonym: "cerebrocostomandibular syndrome" EXACT [MONDO:Lexical, OMIM:117650] synonym: "rib Gap defects with micrognathia" RELATED [OMIM:117650] xref: DOID:0111248 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562538 {source="MONDO:equivalentTo"} xref: OMIM:117650 {source="Orphanet:1393/e", source="MONDO:equivalentTo", source="Orphanet:1393"} xref: Orphanet:1393 {source="OMIM:117650", source="MONDO:equivalentTo"} xref: SCTID:51780007 {source="MONDO:equivalentTo"} xref: UMLS:C0265342 {source="OMIM:117650", source="Orphanet:1393/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1393"} is_a: MONDO:0015160 {source="Orphanet:1393"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0800075 {source="PMID:31633310"} ! dysostosis with predominant vertebral with and without costal involvement property_value: exactMatch DOID:0111248 property_value: exactMatch http://identifiers.org/mesh/C562538 property_value: exactMatch http://identifiers.org/snomedct/51780007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265342 property_value: exactMatch https://omim.org/entry/117650 property_value: exactMatch Orphanet:1393 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0007307 name: Charcot-Marie-Tooth disease type 1B def: "A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized." [OMIM:118200] subset: ordo_disease {source="Orphanet:101082"} synonym: "autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B" EXACT [DOID:0110152] synonym: "Charcot Marie Tooth disease type 1B" RELATED [GARD:0001246] synonym: "Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy" EXACT [DOID:0110152] synonym: "Charcot-Marie-Tooth disease type 1 caused by mutation in MPZ" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1B" RELATED [OMIM:118200] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1B" RELATED [MONDO:Lexical, OMIM:118200] synonym: "Charcot-Marie-Tooth disease, slow nerve conduction type, linked to Duffy" RELATED [OMIM:118200] synonym: "Charcot-Marie-Tooth disease, type 1B" EXACT [OMIM:118200, OMIM:genemap2] synonym: "Charcot-Marie-Tooth neuropathy type 1B" EXACT [DOID:0110152] synonym: "Charcot-Marie-Tooth neuropathy, type 1B" RELATED [OMIM:118200] synonym: "CMT 1B" RELATED [GARD:0001246] synonym: "CMT1B" EXACT ABBREVIATION [DOID:0110152, MONDO:Lexical, OMIM:118200, Orphanet:101082] synonym: "hereditary motor and sensory neuropathy 1" RELATED [OMIM:118200] synonym: "hereditary motor and sensory neuropathy 1B" RELATED [OMIM:118200] synonym: "hereditary motor and sensory neuropathy IB" EXACT [DOID:0110152] synonym: "HMSN 1B" RELATED [GARD:0001246] synonym: "HMSN IB" EXACT ABBREVIATION [DOID:0110152] synonym: "HMSN1" RELATED ABBREVIATION [OMIM:118200] synonym: "HMSN1B" EXACT ABBREVIATION [DOID:0110152, OMIM:118200] synonym: "MPZ Charcot-Marie-Tooth disease type 1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110152 {source="MONDO:equivalentTo"} xref: NCIT:C118782 {source="MONDO:equivalentTo"} xref: OMIM:118200 {source="Orphanet:101082/e", source="MONDO:equivalentTo", source="DOID:0110152", source="Orphanet:101082"} xref: Orphanet:101082 {source="OMIM:118200", source="MONDO:equivalentTo", source="DOID:0110152"} xref: UMLS:C0270912 {source="NCIT:C118782", source="OMIM:118200", source="Orphanet:101082/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:101082"} is_a: MONDO:0011909 ! Charcot-Marie-Tooth disease dominant intermediate D is_a: MONDO:0019011 {source="DOID:0110152", source="MONDO:Redundant", source="Orphanet:101082"} ! Charcot-Marie-Tooth disease type 1 property_value: exactMatch DOID:0110152 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270912 property_value: exactMatch https://omim.org/entry/118200 property_value: exactMatch NCIT:C118782 property_value: exactMatch Orphanet:101082 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007308 name: Charcot-Marie-Tooth disease type 2A1 def: "Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor." [Orphanet:99946] subset: gard_rare subset: ordo_disease {source="Orphanet:99946"} subset: prototype_pattern synonym: "autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1" EXACT [DOID:0110154] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2A1" RELATED [Orphanet:99946] synonym: "Charcot Marie Tooth disease type 2A" RELATED [GARD:0001248] synonym: "Charcot-Marie-Tooth disease neuronal type 2A1" EXACT [DOID:0110154] synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in KIF1B" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease type 2A" EXACT [NCIT:C134952] synonym: "Charcot-Marie-Tooth disease type 2A1" EXACT [] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A1" RELATED [OMIM:118210] synonym: "Charcot-Marie-Tooth disease, axonal, type 2A" RELATED [GARD:0001248] synonym: "Charcot-Marie-Tooth disease, axonal, type 2A1" RELATED [MONDO:Lexical, OMIM:118210] synonym: "Charcot-Marie-Tooth disease, neuronal, type 2A" RELATED [GARD:0001248] synonym: "Charcot-Marie-Tooth disease, neuronal, type 2A1" RELATED [OMIM:118210] synonym: "Charcot-Marie-Tooth disease, type 2A1" EXACT [OMIM:118210, OMIM:genemap2] synonym: "Charcot-Marie-Tooth neuropathy type 2A1" EXACT [DOID:0110154] synonym: "Charcot-Marie-Tooth neuropathy, type 2A1" RELATED [OMIM:118210] synonym: "CMT 2A" RELATED [GARD:0001248] synonym: "CMT2A" EXACT ABBREVIATION [NCIT:C134952] synonym: "CMT2A1" EXACT ABBREVIATION [DOID:0110154, MONDO:Lexical, OMIM:118210, Orphanet:99946] synonym: "hereditary motor and sensory neuropathy 2 A" RELATED [GARD:0001248] synonym: "hereditary motor and sensory neuropathy IIA1" EXACT [DOID:0110154] synonym: "hereditary motor and sensory neuropathy IIa1" RELATED [OMIM:118210] synonym: "HMSN IIA" RELATED [GARD:0001248] synonym: "HMSN IIA1" EXACT [DOID:0110154] synonym: "HMSN IIa1" RELATED [OMIM:118210] synonym: "HMSN2A1" EXACT ABBREVIATION [DOID:0110154, OMIM:118210] synonym: "KIF1B Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110154 {source="MONDO:equivalentTo"} xref: MESH:C566138 {source="MONDO:equivalentTo"} xref: NCIT:C134952 {source="MONDO:equivalentTo"} xref: NCIT:C150609 {source="MONDO:equivalentTo"} xref: OMIM:118210 {source="MONDO:equivalentTo", source="Orphanet:99946", source="GARD:0001248", source="DOID:0110154", source="Orphanet:99946/e"} xref: Orphanet:99946 {source="OMIM:118210", source="MONDO:equivalentTo", source="DOID:0110154"} xref: SCTID:717016001 {source="MONDO:equivalentTo"} is_a: MONDO:0018993 {source="DOID:0110154", source="MONDO:Redundant", source="Orphanet:99946"} ! Charcot-Marie-Tooth disease type 2 property_value: exactMatch DOID:0110154 property_value: exactMatch http://identifiers.org/mesh/C566138 property_value: exactMatch http://identifiers.org/snomedct/717016001 property_value: exactMatch https://omim.org/entry/118210 property_value: exactMatch NCIT:C134952 property_value: exactMatch NCIT:C150609 property_value: exactMatch Orphanet:99946 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1248/charcot-marie-tooth-disease-type-2a xsd:anyURI {source="GARD:0001248"} [Term] id: MONDO:0007309 name: Charcot-Marie-Tooth disease type 1A def: "Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery;and pain medications." [https://rarediseases.info.nih.gov/diseases/1245/charcot-marie-tooth-disease-type-1a] subset: gard_rare {source="GARD:0001245"} subset: ordo_disease {source="Orphanet:101081"} synonym: "autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A" EXACT [DOID:0110148] synonym: "Charcot Marie Tooth disease type 1A" RELATED [GARD:0001245] synonym: "Charcot-Marie-Tooth disease type 1A" EXACT [] synonym: "Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1A" RELATED [OMIM:118220] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1A" RELATED [GARD:0001245, MONDO:Lexical, OMIM:118220] synonym: "Charcot-Marie-Tooth disease, type 1A" EXACT [OMIM:118220, OMIM:genemap2] synonym: "Charcot-Marie-Tooth neuropathy type 1A" EXACT [DOID:0110148] synonym: "Charcot-Marie-Tooth neuropathy, type 1A" RELATED [OMIM:118220] synonym: "Charcot-Marie-Tooth syndrome type 1A" EXACT [DECIPHER:29] synonym: "CMT 1A" RELATED [GARD:0001245] synonym: "CMT1A" EXACT ABBREVIATION [DECIPHER:29, DOID:0110148, MONDO:Lexical, OMIM:118220, Orphanet:101081] synonym: "hereditary motor and sensory neuropathy 1A" EXACT [DOID:0110148, OMIM:118220] synonym: "HMSN 1A" RELATED [GARD:0001245] synonym: "HMSN1A" EXACT ABBREVIATION [DOID:0110148, OMIM:118220] synonym: "microduplication 17p12" EXACT [DOID:0110148, Orphanet:101081] xref: DECIPHER:29 {source="MONDO:equivalentTo"} xref: DOID:0110148 {source="MONDO:equivalentTo"} xref: NCIT:C75468 {source="MONDO:equivalentTo"} xref: OMIM:118220 {source="DOID:0110148", source="MONDO:equivalentTo", source="Orphanet:101081", source="Orphanet:101081/e"} xref: Orphanet:101081 {source="DOID:0110148", source="MONDO:equivalentTo", source="OMIM:118220"} xref: UMLS:C0270911 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:101081", source="OMIM:118220", source="Orphanet:101081/e", source="NCIT:C75468"} is_a: MONDO:0016950 {source="Orphanet:101081", source="https://orcid.org/0000-0001-5208-3432"} ! partial duplication of the short arm of chromosome 17 is_a: MONDO:0019011 {source="DOID:0110148", source="Orphanet:101081"} ! Charcot-Marie-Tooth disease type 1 property_value: exactMatch DOID:0110148 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270911 property_value: exactMatch https://omim.org/entry/118220 property_value: exactMatch NCIT:C75468 property_value: exactMatch Orphanet:101081 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1245/charcot-marie-tooth-disease-type-1a xsd:anyURI {source="GARD:0001245"} [Term] id: MONDO:0007311 name: Charcot-Marie-Tooth disease type 1E def: "A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients." [Orphanet:90658] subset: ordo_disease {source="Orphanet:90658"} synonym: "autosomal dominant Charcot-Marie-Tooth neuropathy and deafness" EXACT [DOID:0110153] synonym: "Charcot Marie Tooth disease type 1E" RELATED [GARD:0009190] synonym: "Charcot-Marie-Tooth disease and deafness" EXACT [DOID:0110153] synonym: "Charcot-Marie-Tooth disease demyelinating type 1E" EXACT [DOID:0110153] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1E" RELATED [OMIM:118300] synonym: "Charcot-Marie-Tooth disease, type 1E" EXACT [OMIM:118300, OMIM:genemap2] synonym: "Charcot-Marie-Tooth disease-deafness" EXACT [DOID:0110153] synonym: "Charcot-Marie-Tooth disease-deafness syndrome" EXACT [Orphanet:90658] synonym: "Charcot-Marie-Tooth neuropathy and deafness, autosomal dominant" RELATED [OMIM:118300] synonym: "CMT 1E" RELATED [GARD:0009190] synonym: "CMT1E" EXACT ABBREVIATION [DOID:0110153, Orphanet:90658] xref: DOID:0110153 {source="MONDO:equivalentTo"} xref: MESH:C537986 {source="Orphanet:90658/e", source="MONDO:equivalentTo", source="Orphanet:90658"} xref: OMIM:118300 {source="Orphanet:90658/e", source="MONDO:equivalentTo", source="DOID:0110153", source="Orphanet:90658"} xref: Orphanet:90658 {source="OMIM:118300", source="MONDO:equivalentTo", source="DOID:0110153"} xref: UMLS:C2931686 {source="Orphanet:90658/e", source="MONDO:equivalentTo", source="Orphanet:90658"} is_a: MONDO:0019011 {source="DOID:0110153", source="Orphanet:90658"} ! Charcot-Marie-Tooth disease type 1 property_value: exactMatch DOID:0110153 property_value: exactMatch http://identifiers.org/mesh/C537986 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931686 property_value: exactMatch https://omim.org/entry/118300 property_value: exactMatch Orphanet:90658 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007315 name: cherubism def: "Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases." [Orphanet:184] subset: gard_rare {source="GARD:0006036"} subset: ordo_malformation_syndrome {source="Orphanet:184"} synonym: "cherubism" EXACT [OMIM:118400] synonym: "CRBM" EXACT ABBREVIATION [Orphanet:184] synonym: "Crbm" RELATED [OMIM:118400] synonym: "familial fibrous dysplasia of the jaws" EXACT [NCIT:C84630] synonym: "familial multilocular cystic disease of the jaws" EXACT [NCIT:C84630] xref: DOID:1856 {source="MONDO:equivalentTo"} xref: ICD9:526.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10070535 {source="Orphanet:184", source="Orphanet:184/e"} xref: MESH:D002636 {source="MONDO:equivalentTo", source="Orphanet:184", source="DOID:1856", source="Orphanet:184/e"} xref: NCIT:C84630 {source="MONDO:equivalentTo", source="DOID:1856"} xref: OMIM:118400 {source="MONDO:equivalentTo", source="Orphanet:184", source="DOID:1856", source="Orphanet:184/e"} xref: Orphanet:184 {source="OMIM:118400", source="MONDO:equivalentTo"} xref: SCTID:76098004 {source="MONDO:equivalentTo", source="DOID:1856"} xref: UMLS:C0008029 {source="OMIM:118400", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:184", source="DOID:1856", source="NCIT:C84630", source="Orphanet:184/e"} is_a: MONDO:0000426 {source="DOID:1856", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0015135 ! primary immunodeficiency due to a genetic defect in innate immunity is_a: MONDO:0015161 {source="Orphanet:184"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015356 {source="NCIT:C84630"} ! hereditary neoplastic syndrome is_a: MONDO:0019751 ! autoinflammatory syndrome is_a: MONDO:0023603 ! hereditary disorder of connective tissue is_a: MONDO:0800089 {source="PMID:31633310"} ! primary bone dysplasia with disorganized development of skeletal components property_value: closeMatch http://identifiers.org/meddra/10070535 property_value: exactMatch DOID:1856 property_value: exactMatch http://identifiers.org/mesh/D002636 property_value: exactMatch http://identifiers.org/snomedct/76098004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008029 property_value: exactMatch https://omim.org/entry/118400 property_value: exactMatch NCIT:C84630 property_value: exactMatch Orphanet:184 property_value: excluded_subClassOf MONDO:0019708 {source="Orphanet:184"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6036/cherubism xsd:anyURI {source="GARD:0006036"} [Term] id: MONDO:0007316 name: Chiari malformation type I def: "Arnold-Chiari malformation type I is a central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic." [Orphanet:268882] subset: ordo_morphological_anomaly {source="Orphanet:268882"} synonym: "Arnold-Chiari malformation type 1" EXACT [Orphanet:268882] synonym: "Arnold-Chiari malformation type I" EXACT [Orphanet:268882] synonym: "Chiari malformation type 1" EXACT [Orphanet:268882] synonym: "Chiari malformation type 1 with syringomyelia" RELATED [OMIM:118420] synonym: "Chiari malformation type I" EXACT [OMIM:118420, Orphanet:268882] synonym: "Cm1" RELATED [OMIM:118420] synonym: "Cm1 with syringomyelia" RELATED [OMIM:118420] xref: MedDRA:10056944 {source="Orphanet:268882", source="Orphanet:268882/e"} xref: OMIM:118420 {source="Orphanet:268882", source="MONDO:equivalentTo", source="Orphanet:268882/e"} xref: Orphanet:268882 {source="OMIM:118420", source="MONDO:equivalentTo"} xref: SCTID:253185002 {source="MONDO:equivalentTo"} is_a: MONDO:0000115 {source="DC-OMIM:118420"} ! Chiari malformation is_a: MONDO:0018075 {source="MONDO:0017085-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neural tube defect property_value: closeMatch http://identifiers.org/meddra/10056944 property_value: exactMatch http://identifiers.org/snomedct/253185002 property_value: exactMatch https://omim.org/entry/118420 property_value: exactMatch Orphanet:268882 [Term] id: MONDO:0007318 name: Alagille syndrome def: "Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys." [Orphanet:52] subset: ordo_malformation_syndrome {source="Orphanet:52"} synonym: "Alagille syndrome" EXACT [OMIM:118450] synonym: "Alagille-Watson syndrome" EXACT [DOID:9245, Orphanet:52] synonym: "Arteriohepatic dysplasia" EXACT [Orphanet:52] synonym: "Cardiovertebral syndrome" RELATED [GARD:0000804] synonym: "hepatic ductular hypoplasia" RELATED [GARD:0000804] synonym: "Hepatofacioneurocardiovertebral syndrome" RELATED [GARD:0000804] synonym: "paucity of interlobular bile ducts" RELATED [GARD:0000804] synonym: "syndromic bile duct paucity" EXACT [Orphanet:52] synonym: "Watson Alagille syndrome" RELATED [GARD:0000804] synonym: "Watson-Miller syndrome" RELATED [GARD:0000804] xref: DOID:9245 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10053870 {source="Orphanet:52/e", source="Orphanet:52"} xref: MESH:D016738 {source="Orphanet:52/e", source="MONDO:equivalentTo", source="DOID:9245", source="Orphanet:52"} xref: NCIT:C35139 {source="MONDO:equivalentTo", source="DOID:9245"} xref: OMIMPS:118450 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:52 {source="MONDO:equivalentTo", source="OMIM:118450"} xref: SCTID:31742004 {source="MONDO:equivalentTo", source="DOID:9245"} xref: UMLS:C0085280 {source="Orphanet:52/e", source="MONDO:equivalentTo", source="NCIT:C35139", source="DOID:9245", source="Orphanet:52", source="OMIM:118450"} is_a: EFO:0003777 {source="MONDO:0015506-obsoleted"} ! heart disease is_a: EFO:0003966 {source="MONDO:0020222-obsoleted"} ! eye disease is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C35139"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:52"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015214 {source="Orphanet:52"} ! syndromic visceral malformation is_a: MONDO:0015509 {source="MONDO:Redundant", source="Orphanet:52"} ! hereditary biliary tract disease property_value: closeMatch http://identifiers.org/meddra/10053870 property_value: exactMatch DOID:9245 property_value: exactMatch http://identifiers.org/mesh/D016738 property_value: exactMatch http://identifiers.org/snomedct/31742004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085280 property_value: exactMatch https://omim.org/phenotypicSeries/PS118450 property_value: exactMatch NCIT:C35139 property_value: exactMatch Orphanet:52 [Term] id: MONDO:0007319 name: chondrocalcinosis 2 def: "A chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA)." [Orphanet:1416] subset: ordo_disease {source="Orphanet:1416"} synonym: "calcium gout" RELATED [OMIM:118600] synonym: "calcium gout, familial" RELATED [GARD:0001292] synonym: "calcium pyrophosphate arthropathy" RELATED [OMIM:118600] synonym: "calcium pyrophosphate arthropathy, familial" RELATED [GARD:0001292] synonym: "calcium pyrophosphate dihydrate crystal deposition disease" EXACT [Orphanet:1416] synonym: "calcium pyrophosphate dihydrate deposition disease" RELATED [OMIM:118600] synonym: "CCAL2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:118600] synonym: "chondrocalcinosis 2" EXACT [MONDO:Lexical, OMIM:118600] synonym: "chondrocalcinosis familial articular" RELATED [GARD:0001292] synonym: "chondrocalcinosis type 2" EXACT [MONDORULE:1, OMIM:118600] synonym: "chondrocalcinosis, familial articular" RELATED [OMIM:118600] synonym: "CPPDD" RELATED ABBREVIATION [GARD:0001292] synonym: "familial articular chondrocalcinosis" EXACT [Orphanet:1416] synonym: "familial calcium pyrophosphate deposition" EXACT [Orphanet:1416] synonym: "familial calcium pyrophosphate dihydrate deposition disease" RELATED [GARD:0001292] synonym: "familial CC" EXACT [Orphanet:1416] synonym: "familial CPPD" EXACT [Orphanet:1416] synonym: "hereditary articular chondrocalcinosis" EXACT [Orphanet:1416] synonym: "hereditary calcium pyrophosphate deposition" EXACT [Orphanet:1416] synonym: "hereditary CC" EXACT [Orphanet:1416] synonym: "Pseudogout, familial" RELATED [GARD:0001292] xref: MESH:C563162 {source="MONDO:equivalentTo"} xref: OMIM:118600 {source="Orphanet:1416/e", source="MONDO:equivalentTo", source="Orphanet:1416"} xref: Orphanet:1416 {source="OMIM:118600", source="MONDO:equivalentTo"} xref: UMLS:CN199517 {source="MONDO:equivalentTo"} is_a: EFO:0005755 {source="Orphanet:1416"} ! rheumatic disease is_a: MONDO:0001314 {source="DC-OMIM:118600", source="MESH:C563162"} ! chondrocalcinosis is_a: MONDO:0019052 ! inborn errors of metabolism is_a: MONDO:0023603 ! hereditary disorder of connective tissue is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder property_value: exactMatch http://identifiers.org/mesh/C563162 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199517 property_value: exactMatch https://omim.org/entry/118600 property_value: exactMatch Orphanet:1416 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0007321 name: autosomal dominant chondrodysplasia punctata alt_id: MONDO:0022728 def: "Autosomal dominant form of chondrodysplasia punctata." [MONDO:patterns/autosomal_dominant] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:79344"} synonym: "chondrodysplasia punctata due to vitamin K deficiency" RELATED [OMIM:118650] synonym: "chondrodysplasia punctata due to warfarin teratogenicity" RELATED [OMIM:118650] synonym: "chondrodysplasia punctata Sheffield type" EXACT [] synonym: "chondrodysplasia punctata, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:118650] synonym: "chondrodysplasia punctata, Sheffield type" EXACT [Orphanet:79344] xref: DOID:0060293 {source="MONDO:equivalentTo"} xref: MESH:C563248 {source="MONDO:equivalentTo"} xref: OMIM:118650 {source="Orphanet:79344/e", source="MONDO:equivalentTo", source="DOID:0060293", source="Orphanet:79344"} xref: Orphanet:79344 {source="GARD:0001298", source="OMIM:118650", source="MONDO:equivalentObsolete", source="DOID:0060293"} is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDO:indirect"} ! syndromic disease is_a: MONDO:0015775 {source="Orphanet:79344"} ! non-rhizomelic chondrodysplasia punctata property_value: exactMatch DOID:0060293 property_value: exactMatch http://identifiers.org/mesh/C563248 property_value: exactMatch https://omim.org/entry/118650 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1298/chondrodysplasia-punctata-sheffield-type xsd:anyURI {source="GARD:0001298"} [Term] id: MONDO:0007322 name: chondrodysplasia punctata, tibial-metacarpal type subset: ordo_malformation_syndrome {source="Orphanet:79346"} synonym: "chondrodysplasia punctata, Mt type" RELATED [OMIM:118651] synonym: "chondrodysplasia punctata, tibia-metacarpal type" RELATED [OMIM:118651] xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562961 {source="MONDO:equivalentTo"} xref: OMIM:118651 {source="Orphanet:79346/e", source="MONDO:equivalentTo", source="Orphanet:79346"} xref: Orphanet:79346 {source="OMIM:118651", source="MONDO:equivalentTo"} xref: SCTID:254083002 {source="MONDO:equivalentTo"} is_a: MONDO:0007321 ! autosomal dominant chondrodysplasia punctata property_value: exactMatch http://identifiers.org/mesh/C562961 property_value: exactMatch http://identifiers.org/snomedct/254083002 property_value: exactMatch https://omim.org/entry/118651 property_value: exactMatch Orphanet:79346 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0007326 name: obsolete paroxysmal nonkinesigenic dyskinesia 1 property_value: IAO:0000231 IAO:0000229 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3265 xsd:anyURI is_obsolete: true replaced_by: MONDO:0700089 [Term] id: MONDO:0007329 name: cirrhosis, familial def: "Cirrhosis in which no causative agent can be identified." [NCIT:C84411] synonym: "cirrhosis, cryptogenic" RELATED [OMIM:215600] synonym: "cirrhosis, familial" EXACT [OMIM:118900, OMIM:215600] synonym: "cirrhosis, familial, with pulmonary hypertension" RELATED [OMIM:215600] synonym: "cirrhosis, Noncryptogenic, susceptibility to" RELATED [OMIM:215600] synonym: "copper toxicosis, idiopathic" RELATED [OMIM:215600] synonym: "copper-overload cirrhosis" RELATED [OMIM:215600] synonym: "cryptogenic cirrhosis" EXACT [NCIT:C84411] synonym: "endemic Tyrolean infantile cirrhosis" RELATED [OMIM:215600] synonym: "hereditary cirrhosis of liver" EXACT [MONDO:patterns/hereditary] synonym: "Indian childhood cirrhosis" RELATED [OMIM:215600] synonym: "Sen syndrome" RELATED [OMIM:215600] xref: MESH:C566123 {source="MONDO:equivalentTo"} xref: NCIT:C84411 {source="MONDO:equivalentTo"} xref: OMIM:215600 {source="MONDO:equivalentTo"} xref: Orphanet:209919 {source="MONDO:relatedTo", source="OMIM:215600"} xref: SCTID:6183001 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="MONDO:Redundant"} ! genetic disorder is_a: EFO:0001422 {source="MONDO:Redundant", source="NCIT:C84411"} ! cirrhosis of liver is_a: MONDO:0100137 {source="PMID:29804726"} ! telomere syndrome intersection_of: EFO:0001422 ! cirrhosis of liver intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/mesh/C566123 property_value: exactMatch http://identifiers.org/snomedct/6183001 property_value: exactMatch https://omim.org/entry/215600 property_value: exactMatch NCIT:C84411 [Term] id: MONDO:0007330 name: congenital pseudoarthrosis of clavicle def: "Congenital pseudoarthrosis of the clavicle is a rare benign condition, characterized by a painless mass or swelling over the clavicle." [Orphanet:66630] subset: ordo_disease {source="Orphanet:66630"} synonym: "clavicle, pseudarthrosis of, congenital" RELATED [OMIM:118980] synonym: "congenital pseudarthrosis of the clavicle" EXACT [Orphanet:66630] synonym: "congenital pseudoarthrosis of the clavicle" RELATED [Orphanet:66630] xref: MESH:C562548 {source="MONDO:equivalentTo"} xref: OMIM:118980 {source="Orphanet:66630/e", source="MONDO:equivalentTo", source="Orphanet:66630"} xref: Orphanet:66630 {source="OMIM:118980", source="MONDO:equivalentTo"} xref: SCTID:70794004 {source="MONDO:equivalentTo"} is_a: MONDO:0018454 {source="Orphanet:66630"} ! dysostosis of genetic origin relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch http://identifiers.org/mesh/C562548 property_value: exactMatch http://identifiers.org/snomedct/70794004 property_value: exactMatch https://omim.org/entry/118980 property_value: exactMatch Orphanet:66630 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0007334 name: autosomal dominant popliteal pterygium syndrome def: "Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." [Orphanet:1300] comment: Editor note: check logical definition subset: ordo_malformation_syndrome {source="Orphanet:1300"} synonym: "cleft lip/palate paramedian mucous cysts of the lower lip popliteal pterygium digital and genital anomalies" RELATED [GARD:0003242] synonym: "cleft Lip/palate, paramedian mucous cysts of the Lower Lip, popliteal pterygium, digital and genital anomalies" RELATED [OMIM:119500] synonym: "facio-genito-popliteal syndrome" BROAD [Orphanet:1300] synonym: "faciogenitopopliteal syndrome" RELATED [OMIM:119500] synonym: "popliteal pterygium syndrome" RELATED [MONDO:Lexical, OMIM:119500] synonym: "popliteal pterygium syndrome 1" EXACT [OMIM:119500, OMIM:genemap2] synonym: "popliteal pterygium syndrome, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] synonym: "popliteal web syndrome" EXACT [Orphanet:1300] synonym: "PPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:119500] xref: OMIM:119500 {source="Orphanet:1300", source="MONDO:equivalentTo", source="Orphanet:1300/e"} xref: Orphanet:1300 {source="OMIM:119500", source="MONDO:equivalentTo"} xref: SCTID:718222000 {source="MONDO:equivalentTo"} xref: UMLS:CN199177 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0015160 {source="Orphanet:1300"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0017435 {source="DC-OMIM:119500", source="MONDO:Redundant", source="Orphanet:1300"} ! popliteal pterygium syndrome is_a: MONDO:0020156 {source="Orphanet:1300"} ! syndromic ankyloblepharon property_value: exactMatch http://identifiers.org/snomedct/718222000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199177 property_value: exactMatch https://omim.org/entry/119500 property_value: exactMatch Orphanet:1300 property_value: excluded_subClassOf MONDO:0015501 {source="Orphanet:1300"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007336 name: isolated cleft palate def: "A cleft palate that is not part of a larger syndrome." [MONDO:patterns/isolated] subset: gard_rare synonym: "cleft palate" RELATED [OMIM:119540] synonym: "cleft palate, isolated" RELATED [MONDO:Lexical, OMIM:119540] synonym: "CPI" RELATED ABBREVIATION [MONDO:Lexical, OMIM:119540] synonym: "dominant cleft palate" RELATED [GARD:0001896] synonym: "isolated cleft palate" EXACT [] synonym: "nonsyndromic cleft palate" EXACT [MONDO:patterns/isolated] xref: DOID:0110213 {source="MONDO:equivalentTo"} xref: ICD10CM:Q35.1 {source="MONDO:directSiblingOf", source="DOID:0110213"} xref: ICD10CM:Q35.3 {source="MONDO:directSiblingOf", source="DOID:0110213"} xref: OMIM:119540 {source="GARD:0001896", source="MONDO:equivalentTo", source="DOID:0110213"} xref: UMLS:CN234898 {source="MONDO:equivalentTo"} is_a: MONDO:0016064 {source="DOID:0110213", source="MONDO:Entailed", source="MONDO:Redundant"} ! cleft palate intersection_of: MONDO:0016064 ! cleft palate intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation relationship: has_characteristic MONDO:0021128 ! has an isolated presentation property_value: exactMatch DOID:0110213 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN234898 property_value: exactMatch https://omim.org/entry/119540 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1896/dominant-cleft-palate xsd:anyURI {source="GARD:0001896"} [Term] id: MONDO:0007337 name: cleft palate-lateral synechia syndrome def: "Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner." [Orphanet:2016] subset: gard_rare {source="GARD:0001391"} subset: ordo_malformation_syndrome {source="Orphanet:2016"} synonym: "cleft palate lateral synechia syndrome" RELATED [GARD:0001391] synonym: "cleft palate-lateral synechia syndrome" EXACT [OMIM:119550] synonym: "CPLS syndrome" EXACT [Orphanet:2016] synonym: "Cpls syndrome" RELATED [OMIM:119550] synonym: "syngnathia" RELATED [OMIM:119550] xref: DOID:0080313 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563047 {source="MONDO:equivalentTo"} xref: OMIM:119550 {source="Orphanet:2016", source="MONDO:equivalentTo", source="Orphanet:2016/e"} xref: Orphanet:2016 {source="MONDO:equivalentTo", source="OMIM:119550"} xref: SCTID:403772000 {source="MONDO:equivalentTo"} xref: UMLS:C0795898 {source="Orphanet:2016", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2016/e", source="OMIM:119550"} is_a: MONDO:0015161 {source="Orphanet:2016"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability property_value: exactMatch DOID:0080313 property_value: exactMatch http://identifiers.org/mesh/C563047 property_value: exactMatch http://identifiers.org/snomedct/403772000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795898 property_value: exactMatch https://omim.org/entry/119550 property_value: exactMatch Orphanet:2016 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1391/cleft-palate-lateral-synechia-syndrome xsd:anyURI {source="GARD:0001391"} [Term] id: MONDO:0007339 name: blepharocheilodontic syndrome def: "An ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." [Orphanet:1997] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1997"} subset: prototype_pattern synonym: "BCD syndrome" EXACT [Orphanet:1997] synonym: "BCDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:119580] synonym: "BCDS1" RELATED ABBREVIATION [OMIM:119580] synonym: "blepharo-cheilo-dontic syndrome" RELATED [GARD:0002071] synonym: "blepharo-cheilo-odontic syndrome" EXACT [DOID:0080344] synonym: "blepharocheilodontic syndrome" EXACT [GARD:0002071, MONDO:Lexical, OMIM:119580, Orphanet:1997] synonym: "blepharocheilodontic syndrome 1" RELATED [OMIM:119580] synonym: "clefting, ectropion, and conical teeth" RELATED [GARD:0002071, OMIM:119580] synonym: "clefting-ectropion-conical teeth syndrome" EXACT [Orphanet:1997] synonym: "ectropion inferior cleft lip and or palate" RELATED [GARD:0002071] synonym: "ectropion inferior-cleft lip and or palate syndrome" EXACT [Orphanet:1997] synonym: "ectropion inferior-cleft lip and/or palate syndrome" EXACT [Orphanet:1997] synonym: "ectropion, inferior, with cleft lip and/or palate" RELATED [OMIM:119580] synonym: "Elsching syndrome" EXACT [Orphanet:1997] synonym: "Elschnig syndrome" RELATED [GARD:0002071, OMIM:119580] synonym: "lagophthalmia with bilateral cleft lip and palate" RELATED [GARD:0002071, OMIM:119580] synonym: "lagophthalmia-cleft lip and palate syndrome" EXACT [Orphanet:1997] xref: DOID:0080344 {source="MONDO:equivalentTo"} xref: MESH:C536188 {source="MONDO:equivalentTo"} xref: OMIMPS:119580 {source="MONDO:cjm", source="MONDO:equivalentTo", source="DOID:0080344"} xref: Orphanet:1997 {source="MONDO:equivalentTo", source="GARD:0002071", source="OMIM:119580"} xref: SCTID:717911008 {source="MONDO:equivalentTo"} xref: UMLS:C1861536 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="GARD:0002071", source="Orphanet:1997", source="OMIM:119580", source="Orphanet:1997/e"} is_a: MONDO:0000426 {source="DOID:0080344"} ! autosomal dominant disease is_a: MONDO:0015161 {source="Orphanet:1997"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0019287 {source="Orphanet:1997"} ! ectodermal dysplasia syndrome is_a: MONDO:0020161 {source="Orphanet:1997"} ! congenital ectropion property_value: exactMatch DOID:0080344 property_value: exactMatch http://identifiers.org/mesh/C536188 property_value: exactMatch http://identifiers.org/snomedct/717911008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861536 property_value: exactMatch https://omim.org/phenotypicSeries/PS119580 property_value: exactMatch Orphanet:1997 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2071/ectropion-inferior-cleft-lip-and-or-palate xsd:anyURI {source="GARD:0002071"} [Term] id: MONDO:0007340 name: cleidocranial dysplasia 1 def: "A condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels). Other features may include decreased bone density (osteopenia), osteoporosis, hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. CCD is caused by changes (mutations) in the RUNX2 gene and inheritance is autosomal dominant. It may be inherited from an affected parent or occur due to a new mutation in the RUNX2 gene. Management may include dental procedures, treatment of sinus and ear infections, use of helmets for high-risk activities, and/or surgery for skeletal problems." [https://rarediseases.info.nih.gov/diseases/6118/cleidocranial-dysplasia] subset: ordo_malformation_syndrome {source="Orphanet:1452"} synonym: "CCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:119600] synonym: "CLCD" RELATED ABBREVIATION [GARD:0006118] synonym: "cleidocranial dysostosis" EXACT [DOID:13994, OMIM:119600, Orphanet:1452] synonym: "cleidocranial dysplasia" EXACT [MONDO:Lexical, OMIM:119600] synonym: "cleidocranial dysplasia, forme fruste, dental anomalies only" RELATED [OMIM:119600] synonym: "cleidocranial dysplasia, forme fruste, with brachydactyly" RELATED [OMIM:119600] synonym: "dysplasia cleidocranial" RELATED [GARD:0006118] synonym: "Marie-Sainton disease" EXACT [DOID:13994] xref: DOID:13994 {source="MONDO:equivalentTo"} xref: ICD9:755.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D002973 {source="Orphanet:1452", source="MONDO:equivalentTo", source="Orphanet:1452/e", source="DOID:13994"} xref: NCIT:C75020 {source="MONDO:equivalentTo", source="DOID:13994"} xref: OMIM:119600 {source="Orphanet:1452", source="MONDO:equivalentTo", source="Orphanet:1452/e", source="DOID:13994"} xref: Orphanet:1452 {source="OMIM:119600", source="MONDO:equivalentTo", source="DOID:13994"} xref: SCTID:65976001 {source="MONDO:equivalentTo", source="DOID:13994"} xref: UMLS:C0008928 {source="Orphanet:1452", source="OMIM:119600", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C75020", source="Orphanet:1452/e", source="DOID:13994"} is_a: EFO:0005571 {source="DOID:13994", source="MESH:D002973"} ! osteochondrodysplasia is_a: MONDO:0002254 {source="NCIT:C75020"} ! syndromic disease is_a: MONDO:0018230 {source="MONDO:0019709-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! skeletal dysplasia is_a: MONDO:0020018 {source="Orphanet:1452"} ! cranial malformation property_value: exactMatch DOID:13994 property_value: exactMatch http://identifiers.org/mesh/D002973 property_value: exactMatch http://identifiers.org/snomedct/65976001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008928 property_value: exactMatch https://omim.org/entry/119600 property_value: exactMatch NCIT:C75020 property_value: exactMatch Orphanet:1452 [Term] id: MONDO:0007341 name: cleidorhizomelic syndrome def: "Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988." [Orphanet:1453] subset: gard_rare {source="GARD:0005532"} subset: ordo_malformation_syndrome {source="Orphanet:1453"} synonym: "brachydactyly, enlarged diaphysis, rhizomelic micromelia, short stature and abnormal clavicle" RELATED [GARD:0005532] synonym: "cleido rhizomelic syndrome" RELATED [GARD:0005532] synonym: "cleidorhizomelic syndrome" EXACT [OMIM:119650] synonym: "rhizomelic shortness with clavicular defect" EXACT [Orphanet:1453] synonym: "Wallis Zieff Goldblatt syndrome" RELATED [GARD:0005532] synonym: "Wallis-Zieff-Goldblatt syndrome" EXACT [Orphanet:1453] xref: MESH:C536428 {source="MONDO:equivalentTo"} xref: OMIM:119650 {source="Orphanet:1453", source="MONDO:equivalentTo", source="Orphanet:1453/e"} xref: Orphanet:1453 {source="MONDO:equivalentTo", source="OMIM:119650"} xref: SCTID:719471002 {source="MONDO:equivalentTo"} xref: UMLS:C1861515 {source="Orphanet:1453", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1453/e", source="OMIM:119650"} is_a: MONDO:0019697 {source="Orphanet:1453"} ! mesomelic and rhizo-mesomelic dysplasia property_value: exactMatch http://identifiers.org/mesh/C536428 property_value: exactMatch http://identifiers.org/snomedct/719471002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861515 property_value: exactMatch https://omim.org/entry/119650 property_value: exactMatch Orphanet:1453 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5532/cleidorhizomelic-syndrome xsd:anyURI {source="GARD:0005532"} [Term] id: MONDO:0007342 name: clubfoot def: "The most common congenital deformation of the foot, occurring in 1 of 1,000 live births. The most common form is talipes equinovarus, where the deformed foot is turned downward and inward sharply." [NCIT:P378] synonym: "CCF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:119800] synonym: "club foot" EXACT [NCIT:C84641] synonym: "clubbed foot" EXACT [NCIT:C84641] synonym: "clubfoot, congenital, with or without deficiency of long bones and/or mirror-IMAGE polydactyly" RELATED [MONDO:Lexical, OMIM:119800] synonym: "congenital clubfoot" EXACT [DOID:11836] synonym: "congenital equinovarus" EXACT [DOID:11836] synonym: "congenital talipes equinovarus" EXACT [DOID:11836] synonym: "equinovarus deformity of foot" EXACT [DOID:11836] synonym: "equinovarus deformity of foot (finding)" EXACT [DOID:11836] synonym: "talipes" EXACT [NCIT:C84641] synonym: "talipes equinovarus" EXACT [NCIT:C84641] xref: DOID:11836 {source="MONDO:equivalentTo"} xref: ICD9:754.51 {source="MONDO:equivalentTo", source="DOID:11836", source="MONDO:i2s"} xref: MESH:D003025 {source="MONDO:equivalentTo", source="DOID:11836"} xref: NCIT:C84641 {source="MONDO:equivalentTo", source="DOID:11836"} xref: OMIM:119800 {source="MONDO:equivalentTo", source="DOID:11836"} xref: SCTID:397932003 {source="MONDO:equivalentTo", source="DOID:11836"} is_a: MONDO:0016046 {source="Orphanet:199315/btnt"} ! familial clubfoot with or without associated lower limb anomalies is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect property_value: exactMatch DOID:11836 property_value: exactMatch http://identifiers.org/mesh/D003025 property_value: exactMatch http://identifiers.org/snomedct/397932003 property_value: exactMatch https://omim.org/entry/119800 property_value: exactMatch NCIT:C84641 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0007343 name: isolated congenital digital clubbing def: "Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality." [Orphanet:217059] subset: ordo_morphological_anomaly {source="Orphanet:217059"} synonym: "acropachy, hereditary" RELATED [OMIM:119900] synonym: "clubbing of digits" RELATED [OMIM:119900] synonym: "digital clubbing, isolated congenital" RELATED [OMIM:119900] synonym: "isolated congenital acropachy" EXACT [Orphanet:217059] synonym: "isolated congenital nail clubbing" EXACT [Orphanet:217059] xref: OMIM:119900 {source="Orphanet:217059/e", source="MONDO:equivalentTo", source="Orphanet:217059"} xref: Orphanet:217059 {source="MONDO:equivalentTo", source="OMIM:119900"} is_a: MONDO:0017429 {source="Orphanet:217059"} ! joint formation defects is_a: MONDO:0019284 {source="Orphanet:217059"} ! inherited isolated nail anomaly property_value: exactMatch https://omim.org/entry/119900 property_value: exactMatch Orphanet:217059 [Term] id: MONDO:0007346 name: cochleosaccular degeneration-cataract syndrome def: "Cochleosaccular degeneration-cataract syndrome is characterized by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant." [Orphanet:3233] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:3233"} synonym: "Cochleosaccular Degeneration" RELATED [MESH:C536432] synonym: "Cochleosaccular degeneration of the inner ear and progressive cataracts" RELATED [GARD:0009418] synonym: "Cochleosaccular Degeneration of the inner Ear with progressive cataracts" RELATED [MESH:C536432] synonym: "COCHLEOSACCULAR degeneration with progressive cataracts" RELATED [OMIM:120040] xref: MESH:C536432 {source="MONDO:equivalentTo"} xref: OMIM:120040 {source="Orphanet:3233", source="GARD:0009418", source="MONDO:equivalentTo", source="Orphanet:3233/e"} xref: Orphanet:3233 {source="OMIM:120040", source="MONDO:equivalentTo"} xref: SCTID:715528001 {source="MONDO:equivalentTo"} xref: UMLS:C1861512 {source="GARD:0009418", source="OMIM:120040", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: exactMatch http://identifiers.org/mesh/C536432 property_value: exactMatch http://identifiers.org/snomedct/715528001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861512 property_value: exactMatch https://omim.org/entry/120040 property_value: exactMatch Orphanet:3233 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9418/cochleosaccular-degeneration-of-the-inner-ear-and-progressive-cataracts xsd:anyURI {source="GARD:0009418"} [Term] id: MONDO:0007348 name: obsolete colchicine resistance synonym: "colchicine resistance" EXACT [OMIM:120080] synonym: "colchicine sensitivity" RELATED [OMIM:120080] xref: OMIM:120080 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C1861502 {source="OMIM:120080", source="MONDO:obsoleteEquivalent", source="MONDO:ncbi_mim2gene_medline"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861502 property_value: exactMatch https://omim.org/entry/120080 is_obsolete: true [Term] id: MONDO:0007349 name: familial cold autoinflammatory syndrome 1 def: "Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRP3 gene." [MONDO:patterns/disease_series_by_gene] synonym: "cold hypersensitivity" RELATED [OMIM:120100] synonym: "cold urticaria, familial" RELATED [OMIM:120100] synonym: "cold-induced autoinflammatory syndrome, familial" RELATED [OMIM:120100] synonym: "Cryopyrin-associated periodic syndrome 1" RELATED [OMIM:120100] synonym: "familial cold autoinflammatory syndrome 1" EXACT [MONDO:Lexical, OMIM:120100] synonym: "familial cold autoinflammatory syndrome caused by mutation in NLRP3" EXACT [MONDO:design_pattern] synonym: "familial cold autoinflammatory syndrome type 1" EXACT [DOID:0090062, MONDORULE:1, OMIM:120100] synonym: "familial cold inflammatory syndrome 1" EXACT [OMIM:120100, OMIM:genemap2] synonym: "Fcas" RELATED [OMIM:120100] synonym: "FCAS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:120100] synonym: "NLRP3 familial cold autoinflammatory syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090062 {source="MONDO:equivalentTo"} xref: OMIM:120100 {source="DOID:0090062", source="MONDO:equivalentTo"} xref: SCTID:238687000 {source="MONDO:equivalentTo"} is_a: MONDO:0018768 {source="DC-OMIM:120100", source="DOID:0090062", source="MONDO:Redundant", source="OMIM:120100"} ! familial cold autoinflammatory syndrome property_value: exactMatch DOID:0090062 property_value: exactMatch http://identifiers.org/snomedct/238687000 property_value: exactMatch https://omim.org/entry/120100 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007350 name: coloboma, ocular, autosomal dominant synonym: "coloboma of iris, choroid, and retina" RELATED [OMIM:120200] synonym: "coloboma, ocular" EXACT [OMIM:120200, OMIM:genemap2] synonym: "coloboma, ocular, autosomal dominant" EXACT [OMIM:120200] synonym: "coloboma, Uveoretinal" RELATED [OMIM:120200] xref: OMIM:120200 {source="MONDO:equivalentTo"} is_a: MONDO:0001476 {source="Orphanet:194/btnt"} ! coloboma property_value: exactMatch https://omim.org/entry/120200 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007351 name: coloboma of macula def: "Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders." [Orphanet:98945] subset: ordo_morphological_anomaly {source="Orphanet:98945"} synonym: "agenesis of macula" RELATED [OMIM:120300] synonym: "coloboma of macula" EXACT [OMIM:120300] synonym: "hereditary macular coloboma (subtype)" RELATED [GARD:0001436] synonym: "macular coloboma" RELATED [GARD:0001436] xref: OMIM:120300 {source="MONDO:equivalentTo", source="Orphanet:98945", source="Orphanet:98945/w"} xref: Orphanet:98945 {source="MONDO:equivalentTo", source="OMIM:120300"} is_a: MONDO:0001476 {source="Orphanet:98945"} ! coloboma is_a: MONDO:0020242 {source="MONDO:0020243-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! hereditary macular dystrophy property_value: exactMatch https://omim.org/entry/120300 property_value: exactMatch Orphanet:98945 [Term] id: MONDO:0007352 name: renal coloboma syndrome def: "Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia." [Orphanet:1475] subset: gard_rare {source="GARD:0004106"} subset: ordo_malformation_syndrome {source="Orphanet:1475"} synonym: "CAKUT with or without ocular abnormalities" EXACT [DOID:0090006] synonym: "coloboma of optic nerve with renal disease" EXACT [DOID:0090006, Orphanet:1475] synonym: "congenital anomalies of the kidney and urinary tract with or without ocular abnormalities" EXACT [DOID:0090006, OMIM:120330] synonym: "optic coloboma, vesicoureteral reflux and renal anomalies" EXACT [DOID:0090006] synonym: "optic coloboma, vesicoureteral reflux, and renal anomalies" RELATED [OMIM:120330] synonym: "optic nerve coloboma with renal disease" RELATED [OMIM:120330] synonym: "Papillo-renal syndrome" EXACT [Orphanet:1475] synonym: "papillo-renal syndrome, optic nerve coloboma with renal disease" EXACT [DOID:0090006] synonym: "PAPILLORENAL syndrome" RELATED [MONDO:Lexical, OMIM:120330] synonym: "papillorenal syndrome" EXACT [DOID:0090006] synonym: "PAPRS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:120330] synonym: "renal-coloboma syndrome" RELATED [OMIM:120330] synonym: "renal-coloboma syndrome with macular abnormalities" EXACT [DOID:0090006, OMIM:120330] xref: DOID:0090006 {source="MONDO:equivalentTo"} xref: ICD10CM:Q60.4 {source="Orphanet:1475", source="MONDO:relatedTo", source="Orphanet:1475/attributed", source="Orphanet:1475/ntbt", source="DOID:0090006"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537168 {source="MONDO:equivalentTo"} xref: NCIT:C123230 {source="MONDO:equivalentTo"} xref: OMIM:120330 {source="Orphanet:1475", source="MONDO:equivalentTo", source="Orphanet:1475/e", source="DOID:0090006"} xref: Orphanet:1475 {source="MONDO:equivalentTo", source="OMIM:120330", source="DOID:0090006"} xref: SCTID:446449009 {source="MONDO:equivalentTo"} xref: UMLS:C1852759 {source="Orphanet:1475", source="NCIT:C123230", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1475/e", source="OMIM:120330"} is_a: MONDO:0000426 {source="DOID:0090006", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C123230"} ! syndromic disease is_a: MONDO:0020145 {source="MONDO:0020149-obsoleted"} ! developmental defect of the eye property_value: exactMatch DOID:0090006 property_value: exactMatch http://identifiers.org/mesh/C537168 property_value: exactMatch http://identifiers.org/snomedct/446449009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852759 property_value: exactMatch https://omim.org/entry/120330 property_value: exactMatch NCIT:C123230 property_value: exactMatch Orphanet:1475 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4106/renal-coloboma-syndrome xsd:anyURI {source="GARD:0004106"} [Term] id: MONDO:0007353 name: coloboma of macula-brachydactyly type B syndrome def: "Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner." [Orphanet:1471] subset: ordo_malformation_syndrome {source="Orphanet:1471"} synonym: "apical dystrophy" RELATED [OMIM:120400] synonym: "coloboma of macula with type B brachydactyly" RELATED [OMIM:120400] synonym: "Sorsby syndrome" EXACT [OMIM:120400, Orphanet:1471] xref: MESH:C535969 {source="Orphanet:1471/e", source="MONDO:equivalentTo", source="Orphanet:1471"} xref: OMIM:120400 {source="Orphanet:1471/e", source="MONDO:equivalentTo", source="Orphanet:1471"} xref: Orphanet:1471 {source="MONDO:equivalentTo", source="OMIM:120400"} xref: SCTID:717785002 {source="MONDO:equivalentTo"} xref: UMLS:C1852752 {source="Orphanet:1471/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:120400", source="Orphanet:1471"} is_a: MONDO:0020242 {source="MONDO:0020243-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! hereditary macular dystrophy property_value: exactMatch http://identifiers.org/mesh/C535969 property_value: exactMatch http://identifiers.org/snomedct/717785002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852752 property_value: exactMatch https://omim.org/entry/120400 property_value: exactMatch Orphanet:1471 [Term] id: MONDO:0007354 name: coloboma of optic nerve subset: ordo_morphological_anomaly {source="Orphanet:98947"} synonym: "coloboma of optic disc" RELATED OMO:0003005 [] synonym: "coloboma of optic nerve (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "coloboma of optic papilla" EXACT [Orphanet:98947] synonym: "congenital coloboma of the optic nerve" NARROW [GARD:0008502] synonym: "morning glory Disc anomaly" RELATED [OMIM:120430] synonym: "optic nerve coloboma" EXACT [GARD:0008502] synonym: "optic nerve head pits, bilateral congenital" RELATED [OMIM:120430] xref: DOID:11975 {source="MONDO:equivalentTo"} xref: HP:0000588 {source="MONDO:otherHierarchy"} xref: ICD9:377.23 {source="DOID:11975", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:C535970 {source="DOID:11975", source="MONDO:equivalentTo"} xref: OMIM:120430 {source="DOID:11975", source="MONDO:equivalentTo"} xref: Orphanet:98947 {source="MONDO:equivalentTo"} xref: SCTID:17541006 {source="DOID:11975", source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: MONDO:0001476 {source="DC-OMIM:120430", source="MESH:C535970", source="Orphanet:98947"} ! coloboma is_a: MONDO:0001834 {source="DOID:11975"} ! visual pathway disorder property_value: exactMatch DOID:11975 property_value: exactMatch http://identifiers.org/mesh/C535970 property_value: exactMatch http://identifiers.org/snomedct/17541006 property_value: exactMatch https://omim.org/entry/120430 property_value: exactMatch Orphanet:98947 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4364 xsd:anyURI property_value: IAO:0000589 "coloboma of optic nerve (disease)" xsd:string [Term] id: MONDO:0007355 name: uveal coloboma-cleft lip and palate-intellectual disability def: "Uveal coloboma-cleft lip and palate-intellectual disability is characterized by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant." [Orphanet:1473] subset: ordo_malformation_syndrome {source="Orphanet:1473"} synonym: "COB1" RELATED DEPRECATED [MONDO:Lexical, OMIM:120433] synonym: "coloboma, cleft lip/palate and intellectual disability syndrome" RELATED [GARD:0001440] synonym: "coloboma, cleft lip/palate and mental retardation syndrome" RELATED DEPRECATED [GARD:0001440] synonym: "coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or intellectual disability" RELATED [MONDO:Lexical, OMIM:120433] synonym: "coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation" RELATED DEPRECATED [MONDO:Lexical, OMIM:120433] synonym: "coloboma-microphthalmos syndrome" RELATED [GARD:0001440] synonym: "coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate" RELATED [GARD:0001440] synonym: "uveal coloboma-cleft lip and palate-intellectual disability" EXACT [] synonym: "uveal coloboma-cleft lip/palate-intellectual disability syndrome" RELATED [GARD:0001440] synonym: "uveal coloboma-cleft lip/palate-mental retardation syndrome" RELATED DEPRECATED [GARD:0001440] xref: DOID:0111249 {source="MONDO:equivalentTo"} xref: MESH:C535971 {source="MONDO:equivalentTo"} xref: OMIM:120433 {source="Orphanet:1473", source="MONDO:equivalentTo", source="Orphanet:1473/e"} xref: Orphanet:1473 {source="MONDO:equivalentTo", source="OMIM:120433"} xref: UMLS:C0795902 {source="Orphanet:1473", source="MONDO:equivalentTo", source="Orphanet:1473/e"} is_a: MONDO:0015159 {source="Orphanet:1473"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch DOID:0111249 property_value: exactMatch http://identifiers.org/mesh/C535971 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795902 property_value: exactMatch https://omim.org/entry/120433 property_value: exactMatch Orphanet:1473 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1473"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0007363 name: congenital contractural arachnodactyly def: "Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia." [Orphanet:115] subset: ordo_malformation_syndrome {source="Orphanet:115"} synonym: "arachnodactyly, contractural Beals type" RELATED [GARD:0005899] synonym: "arthrogryposis, distal, type 9" RELATED [MONDO:Lexical, OMIM:121050] synonym: "Beals syndrome" EXACT [OMIM:121050, Orphanet:115] synonym: "Beals-Hecht syndrome" EXACT [Orphanet:115] synonym: "CCA" EXACT ABBREVIATION [NCIT:C129865] synonym: "CCA syndrome" EXACT [Orphanet:115] synonym: "contractural arachnodactyly, congenital" RELATED [OMIM:121050] synonym: "contractures, multiple with arachnodactyly" RELATED [GARD:0005899] synonym: "DA9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:121050] synonym: "distal arthrogryposis type 9" EXACT [Orphanet:115] synonym: "Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis" RELATED [GARD:0005899] xref: DOID:0111595 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536211 {source="Orphanet:115", source="MONDO:equivalentTo", source="Orphanet:115/e"} xref: NCIT:C129865 {source="MONDO:equivalentTo"} xref: OMIM:121050 {source="Orphanet:115", source="MONDO:equivalentTo", source="Orphanet:115/e"} xref: Orphanet:115 {source="OMIM:121050", source="MONDO:equivalentTo"} xref: SCTID:205821003 {source="MONDO:equivalentTo"} xref: UMLS:C0220668 {source="Orphanet:115", source="OMIM:121050", source="MONDO:equivalentTo", source="NCIT:C129865", source="Orphanet:115/e", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0003857 {source="NCIT:C129865"} ! arthrogryposis is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0017310 {source="Orphanet:115"} ! Marfan and Marfan-related disorder is_a: MONDO:0019942 {source="DC-OMIM:121050", source="Orphanet:115"} ! distal arthrogryposis is_a: MONDO:0800091 {source="PMID:31633310"} ! overgrowth or tall stature syndrome with skeletal involvement property_value: exactMatch DOID:0111595 property_value: exactMatch http://identifiers.org/mesh/C536211 property_value: exactMatch http://identifiers.org/snomedct/205821003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220668 property_value: exactMatch https://omim.org/entry/121050 property_value: exactMatch NCIT:C129865 property_value: exactMatch Orphanet:115 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0007368 name: familial benign copper deficiency def: "Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1982." [Orphanet:1551] subset: gard_rare {source="GARD:0001522"} subset: ordo_disease {source="Orphanet:1551"} synonym: "copper deficiency, familial benign" RELATED [OMIM:121270] synonym: "familial benign hypocupremia" RELATED [GARD:0001522] xref: MESH:C535468 {source="Orphanet:1551", source="MONDO:equivalentTo", source="Orphanet:1551/e"} xref: OMIM:121270 {source="Orphanet:1551", source="MONDO:equivalentTo", source="Orphanet:1551/e"} xref: Orphanet:1551 {source="OMIM:121270", source="MONDO:equivalentTo"} xref: SCTID:763531001 {source="MONDO:equivalentTo"} xref: UMLS:C1852576 {source="OMIM:121270", source="Orphanet:1551", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1551/e"} is_a: MONDO:0017762 {source="Orphanet:1551"} ! disorder of copper metabolism property_value: exactMatch http://identifiers.org/mesh/C535468 property_value: exactMatch http://identifiers.org/snomedct/763531001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852576 property_value: exactMatch https://omim.org/entry/121270 property_value: exactMatch Orphanet:1551 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1522/copper-deficiency-familial-benign xsd:anyURI {source="GARD:0001522"} [Term] id: MONDO:0007369 name: hereditary coproporphyria def: "A form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions." [Orphanet:79273] subset: gard_rare {source="GARD:0006619"} subset: ordo_disease {source="Orphanet:79273"} synonym: "coproporphyria" RELATED [GARD:0006619] synonym: "coproporphyria hereditary" RELATED [GARD:0006619] synonym: "coproporphyria, hereditary" RELATED [MONDO:Lexical, OMIM:121300] synonym: "coproporphyrinogen oxidase deficiency" EXACT [DOID:13269, OMIM:121300] synonym: "Cpo deficiency" RELATED [OMIM:121300] synonym: "Cpox deficiency" RELATED [OMIM:121300] synonym: "CPRO deficiency" RELATED [GARD:0006619] synonym: "Cpx deficiency" RELATED [OMIM:121300] synonym: "Harderoporphyria" RELATED [OMIM:121300] synonym: "HCP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:121300] synonym: "hereditary coproporphyria" EXACT [DOID:13269] synonym: "hereditary coproporphyria porphyria" EXACT [DOID:13269] synonym: "porphyria hepatica coproporphyria" RELATED [GARD:0006619] synonym: "porphyria hepatica II" RELATED [GARD:0006619] xref: DOID:13269 {source="MONDO:equivalentTo"} xref: MedDRA:10019866 {source="Orphanet:79273", source="Orphanet:79273/e"} xref: MESH:D046349 {source="MONDO:equivalentTo", source="Orphanet:79273", source="DOID:13269", source="Orphanet:79273/e"} xref: NCIT:C84759 {source="MONDO:equivalentTo", source="DOID:13269"} xref: OMIM:121300 {source="MONDO:equivalentTo", source="Orphanet:79273", source="DOID:13269", source="Orphanet:79273/e"} xref: Orphanet:79273 {source="MONDO:equivalentTo", source="OMIM:121300"} xref: SCTID:7425008 {source="MONDO:equivalentTo", source="DOID:13269"} xref: UMLS:C0162531 {source="NCIT:C84759", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:79273", source="OMIM:121300", source="DOID:13269", source="Orphanet:79273/e"} is_a: MONDO:0002520 {source="DOID:13269", source="MESH:D046349", source="Orphanet:79273"} ! hepatic porphyria is_a: MONDO:0800180 {source="https://clinicalgenome.org/affiliation/40097/", source="https://clinicalgenome.org/working-groups/clinical-domain/inborn-errors-of-metabolism/"} ! CPOX-related hereditary coproporphyria property_value: closeMatch http://identifiers.org/meddra/10019866 property_value: exactMatch DOID:13269 property_value: exactMatch http://identifiers.org/mesh/D046349 property_value: exactMatch http://identifiers.org/snomedct/7425008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162531 property_value: exactMatch https://omim.org/entry/121300 property_value: exactMatch NCIT:C84759 property_value: exactMatch Orphanet:79273 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6619/hereditary-coproporphyria xsd:anyURI {source="GARD:0006619"} [Term] id: MONDO:0007374 name: Schnyder corneal dystrophy def: "Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity." [Orphanet:98967] subset: ordo_disease {source="Orphanet:98967"} synonym: "corneal dystrophy crystalline of Schnyder" EXACT [DOID:0060456] synonym: "corneal dystrophy, crystalline, of Schnyder" RELATED [OMIM:121800] synonym: "corneal dystrophy, Schnyder" RELATED [OMIM:121800] synonym: "corneal dystrophy, Schnyder type" EXACT [OMIM:121800, OMIM:genemap2] synonym: "crystalline stromal dystrophy" EXACT [DOID:0060456, Orphanet:98967] synonym: "hereditary crystalline stromal dystrophy of Schnyder" EXACT [DOID:0060456, Orphanet:98967] synonym: "SCCD" EXACT ABBREVIATION [DOID:0060456, MONDO:Lexical, OMIM:121800, Orphanet:98967] synonym: "SCD" EXACT ABBREVIATION [Orphanet:98967] synonym: "Schnyder corneal dystrophy" EXACT [MONDO:Lexical, OMIM:121800] synonym: "Schnyder crystalline corneal dystrophy" EXACT [DOID:0060456, OMIM:121800, Orphanet:98967] synonym: "Schnyder crystalline dystrophy sine crystals" EXACT [Orphanet:98967] xref: DOID:0060456 {source="MONDO:equivalentTo"} xref: MESH:C535475 {source="MONDO:equivalentTo", source="Orphanet:98967", source="DOID:0060456", source="Orphanet:98967/e"} xref: OMIM:121800 {source="MONDO:equivalentTo", source="Orphanet:98967", source="DOID:0060456", source="Orphanet:98967/e"} xref: Orphanet:98967 {source="MONDO:equivalentTo", source="DOID:0060456", source="OMIM:121800"} xref: SCTID:419395007 {source="MONDO:equivalentTo", source="DOID:0060456"} is_a: MONDO:0020213 {source="DOID:0060456", source="Orphanet:98967"} ! stromal corneal dystrophy property_value: exactMatch DOID:0060456 property_value: exactMatch http://identifiers.org/mesh/C535475 property_value: exactMatch http://identifiers.org/snomedct/419395007 property_value: exactMatch https://omim.org/entry/121800 property_value: exactMatch Orphanet:98967 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007375 name: epithelial basement membrane dystrophy subset: ordo_disease {source="Orphanet:98956"} synonym: "anterior basement membrane dystrophy" EXACT [Orphanet:98956] synonym: "Cogan corneal dystrophy" EXACT [DOID:0060447, OMIM:121820] synonym: "Cogan microcystic epithelial dystrophy" EXACT [Orphanet:98956] synonym: "corneal dystrophy, anterior basement Membrane" RELATED [OMIM:121820] synonym: "corneal dystrophy, epithelial basement MEMBRANE" RELATED [MONDO:Lexical, OMIM:121820] synonym: "corneal dystrophy, Map-Dot-Fingerprint type" RELATED [OMIM:121820] synonym: "corneal dystrophy, microcystic" RELATED [OMIM:121820] synonym: "EBMD" EXACT ABBREVIATION [DOID:0060447, MONDO:Lexical, OMIM:121820] synonym: "epithelial basement membrane corneal dystrophy" RELATED [GARD:0009732] synonym: "Map-dot-fingerprint dystrophy" EXACT [Orphanet:98956] synonym: "Map-dot-fingerprint dystrophy of cornea" RELATED [GARD:0009732] synonym: "microcystic corneal dystrophy" EXACT [DOID:0060447] synonym: "microcystic dystrophy of the cornea" RELATED [GARD:0009732] xref: DOID:0060447 {source="MONDO:equivalentTo"} xref: MESH:C535477 {source="MONDO:equivalentTo", source="DOID:0060447"} xref: OMIM:121820 {source="MONDO:equivalentTo", source="Orphanet:98956", source="DOID:0060447", source="Orphanet:98956/e"} xref: Orphanet:98956 {source="MONDO:equivalentTo", source="DOID:0060447", source="OMIM:121820"} xref: SCTID:373426005 {source="MONDO:equivalentTo"} is_a: MONDO:0000763 {source="DOID:0060447"} ! epithelial and subepithelial corneal dystrophy is_a: MONDO:0000764 ! epithelial-stromal TGFBI dystrophy is_a: MONDO:0020212 {source="Orphanet:98956"} ! superficial corneal dystrophy property_value: exactMatch DOID:0060447 property_value: exactMatch http://identifiers.org/mesh/C535477 property_value: exactMatch http://identifiers.org/snomedct/373426005 property_value: exactMatch https://omim.org/entry/121820 property_value: exactMatch Orphanet:98956 [Term] id: MONDO:0007376 name: fleck corneal dystrophy def: "Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity." [Orphanet:98970] subset: ordo_disease {source="Orphanet:98970"} synonym: "Cfd" RELATED [OMIM:121850] synonym: "corneal dystrophy, FLECK" RELATED [OMIM:121850] synonym: "corneal dystrophy, Francois-Neetens speckled or flecked" RELATED [OMIM:121850] synonym: "corneal fleck dystrophy" EXACT [OMIM:121850, OMIM:genemap2] synonym: "FCD" EXACT ABBREVIATION [DOID:0060448, Orphanet:98970] synonym: "fleck corneal dystrophy" EXACT [OMIM:121850] synonym: "FranC'ois-Neetens speckled corneal dystrophy" EXACT [Orphanet:98970] synonym: "Francois-Neetens speckled corneal dystrophy" EXACT [DOID:0060448] synonym: "François-Neetens speckled corneal dystrophy" EXACT [Orphanet:98970] xref: DOID:0060448 {source="MONDO:equivalentTo"} xref: ICD9:371.56 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563256 {source="MONDO:equivalentTo", source="DOID:0060448"} xref: OMIM:121850 {source="Orphanet:98970/e", source="MONDO:equivalentTo", source="DOID:0060448", source="Orphanet:98970"} xref: Orphanet:98970 {source="MONDO:equivalentTo", source="DOID:0060448", source="OMIM:121850"} xref: SCTID:417183007 {source="MONDO:equivalentTo", source="DOID:0060448"} xref: UMLS:C1562113 {source="Orphanet:98970/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:0060448", source="OMIM:121850", source="Orphanet:98970"} is_a: MONDO:0020213 {source="DOID:0060448", source="Orphanet:98970"} ! stromal corneal dystrophy property_value: exactMatch DOID:0060448 property_value: exactMatch http://identifiers.org/mesh/C563256 property_value: exactMatch http://identifiers.org/snomedct/417183007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1562113 property_value: exactMatch https://omim.org/entry/121850 property_value: exactMatch Orphanet:98970 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007377 name: granular corneal dystrophy type I def: "Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe." [Orphanet:98962] subset: ordo_disease {source="Orphanet:98962"} synonym: "CDGG1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:121900] synonym: "classic GCD" EXACT [Orphanet:98962] synonym: "classic granular corneal dystrophy" EXACT [Orphanet:98962] synonym: "corneal dystrophy granular type" RELATED [GARD:0009677] synonym: "corneal dystrophy Groenouw type I" EXACT [Orphanet:98962] synonym: "corneal dystrophy punctate or nodular" RELATED [GARD:0009677] synonym: "corneal dystrophy, Groenouw type 1" RELATED [OMIM:121900] synonym: "corneal dystrophy, Groenouw type I" RELATED [MONDO:Lexical, OMIM:121900] synonym: "corneal dystrophy, punctate or nodular" RELATED [OMIM:121900] synonym: "GCD1" EXACT ABBREVIATION [Orphanet:98962] synonym: "GCDI" EXACT ABBREVIATION [Orphanet:98962] synonym: "granular corneal dystrophy type 1" EXACT [Orphanet:98962] synonym: "granular corneal dystrophy, type 1" RELATED [OMIM:121900] synonym: "Groenouw type I corneal dystrophy" RELATED [GARD:0009677] xref: DOID:0080530 {source="MONDO:equivalentTo"} xref: MESH:C537304 {source="MONDO:equivalentTo"} xref: OMIM:121900 {source="Orphanet:98962", source="MONDO:equivalentTo", source="Orphanet:98962/e"} xref: Orphanet:98962 {source="OMIM:121900", source="MONDO:equivalentTo"} xref: SCTID:419039007 {source="MONDO:equivalentTo"} xref: UMLS:C1641846 {source="OMIM:121900", source="Orphanet:98962", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000764 ! epithelial-stromal TGFBI dystrophy is_a: MONDO:0020213 {source="Orphanet:98962"} ! stromal corneal dystrophy property_value: exactMatch DOID:0080530 property_value: exactMatch http://identifiers.org/mesh/C537304 property_value: exactMatch http://identifiers.org/snomedct/419039007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1641846 property_value: exactMatch https://omim.org/entry/121900 property_value: exactMatch Orphanet:98962 [Term] id: MONDO:0007379 name: Meesmann corneal dystrophy def: "Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision." [Orphanet:98954] subset: gard_rare {source="GARD:0009688"} subset: ordo_disease {source="Orphanet:98954"} synonym: "corneal dystrophy, juvenile epithelial of Meesmann" RELATED [GARD:0009688] synonym: "corneal dystrophy, juvenile epithelial, of Meesmann" RELATED [OMIM:122100] synonym: "corneal dystrophy, Meesmann" RELATED [MONDO:Lexical, OMIM:122100] synonym: "corneal dystrophy, Meesmann epithelial" RELATED [OMIM:122100] synonym: "juvenile epithelial of Meesmann corneal dystrophy" EXACT [NCIT:C84795] synonym: "juvenile hereditary epithelial dystrophy" EXACT [DOID:0060451] synonym: "juvenile hereditary epithelial dystrophy of Meesmann" EXACT [Orphanet:98954] synonym: "MECD" EXACT ABBREVIATION [DOID:0060451, MONDO:Lexical, OMIM:122100, Orphanet:98954] synonym: "Meesman dystrophy" RELATED [GARD:0009688] synonym: "Meesmann corneal dystrophy" EXACT [OMIM:122100] synonym: "Meesmann corneal epithelial dystrophy" RELATED [GARD:0009688] synonym: "stocker-Holt dystrophy" EXACT [DOID:0060451] xref: DOID:0060451 {source="MONDO:equivalentTo"} xref: ICD9:371.51 {source="DOID:0060451"} xref: MESH:D053559 {source="DOID:0060451", source="Orphanet:98954", source="MONDO:equivalentTo", source="Orphanet:98954/e"} xref: NCIT:C84795 {source="DOID:0060451", source="MONDO:equivalentTo"} xref: OMIMPS:122100 {source="MONDO:equivalentTo"} xref: Orphanet:98954 {source="DOID:0060451", source="MONDO:equivalentTo", source="OMIM:122100"} xref: SCTID:1674008 {source="DOID:0060451", source="MONDO:equivalentTo"} xref: UMLS:C0339277 {source="DOID:0060451", source="Orphanet:98954", source="MONDO:equivalentTo", source="OMIM:122100", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:98954/e", source="NCIT:C84795"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0000763 {source="DOID:0060451"} ! epithelial and subepithelial corneal dystrophy is_a: MONDO:0020212 {source="Orphanet:98954"} ! superficial corneal dystrophy property_value: exactMatch DOID:0060451 property_value: exactMatch http://identifiers.org/mesh/D053559 property_value: exactMatch http://identifiers.org/snomedct/1674008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339277 property_value: exactMatch https://omim.org/phenotypicSeries/PS122100 property_value: exactMatch NCIT:C84795 property_value: exactMatch Orphanet:98954 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9688/meesmann-corneal-dystrophy xsd:anyURI {source="GARD:0009688"} [Term] id: MONDO:0007380 name: lattice corneal dystrophy type I def: "Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations." [Orphanet:98964] subset: ordo_disease {source="Orphanet:98964"} synonym: "Biber-Haab-Dimmer dystrophy" EXACT [Orphanet:98964] synonym: "CDL1" RELATED ABBREVIATION [OMIM:122200] synonym: "classic lattice corneal dystrophy" EXACT [Orphanet:98964] synonym: "corneal dystrophy, lattice type 1" RELATED [GARD:0009678, OMIM:122200] synonym: "corneal dystrophy, lattice type I" RELATED [MONDO:Lexical, OMIM:122200] synonym: "lattice corneal dystrophy type 1" EXACT [Orphanet:98964] synonym: "lattice corneal dystrophy, type 1" RELATED [OMIM:122200] synonym: "LCD" RELATED ABBREVIATION [OMIM:122200] synonym: "Lcd1" EXACT [MONDO:Lexical, OMIM:122200, Orphanet:98964] synonym: "LCDI" EXACT ABBREVIATION [Orphanet:98964] xref: MESH:C537881 {source="Orphanet:98964", source="MONDO:equivalentTo", source="Orphanet:98964/e"} xref: OMIM:122200 {source="Orphanet:98964", source="MONDO:equivalentTo", source="Orphanet:98964/e"} xref: Orphanet:98964 {source="MONDO:equivalentTo", source="OMIM:122200"} xref: SCTID:419197009 {source="MONDO:equivalentTo"} xref: UMLS:C1690006 {source="Orphanet:98964", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:122200", source="Orphanet:98964/e"} xref: UMLS:CN207224 {source="MONDO:equivalentTo"} is_a: MONDO:0000764 ! epithelial-stromal TGFBI dystrophy is_a: MONDO:0004686 {source="https://orcid.org/0000-0001-5208-3432"} ! lattice corneal dystrophy property_value: exactMatch http://identifiers.org/mesh/C537881 property_value: exactMatch http://identifiers.org/snomedct/419197009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1690006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207224 property_value: exactMatch https://omim.org/entry/122200 property_value: exactMatch Orphanet:98964 [Term] id: MONDO:0007381 name: epithelial recurrent erosion dystrophy def: "Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision." [Orphanet:293381] subset: ordo_disease {source="Orphanet:293381"} synonym: "corneal erosions, recurring hereditary" RELATED [OMIM:122400] synonym: "dystrophia Helsinglandica" EXACT [Orphanet:293381] synonym: "dystrophia Smolandiensis" EXACT [Orphanet:293381] synonym: "epithelial recurrent erosion dystrophy" EXACT [MONDO:Lexical, OMIM:122400] synonym: "ERED" EXACT ABBREVIATION [MONDO:Lexical, OMIM:122400, Orphanet:293381] synonym: "recurrent hereditary corneal erosions" EXACT [Orphanet:293381] xref: DOID:0070337 {source="MONDO:equivalentTo"} xref: MESH:C565155 {source="MONDO:equivalentTo"} xref: OMIM:122400 {source="Orphanet:293381", source="MONDO:equivalentTo", source="Orphanet:293381/e"} xref: Orphanet:293381 {source="MONDO:equivalentTo", source="OMIM:122400"} xref: SCTID:715908008 {source="MONDO:equivalentTo"} xref: UMLS:C1852551 {source="Orphanet:293381", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:122400"} is_a: MONDO:0020212 {source="Orphanet:293381"} ! superficial corneal dystrophy property_value: exactMatch DOID:0070337 property_value: exactMatch http://identifiers.org/mesh/C565155 property_value: exactMatch http://identifiers.org/snomedct/715908008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852551 property_value: exactMatch https://omim.org/entry/122400 property_value: exactMatch Orphanet:293381 [Term] id: MONDO:0007382 name: Ramos-Arroyo syndrome def: "Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature, and intellectual disability." [Orphanet:1051] subset: ordo_malformation_syndrome {source="Orphanet:1051"} synonym: "congenital corneal anaesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and intellectual disability" RELATED OMO:0003005 [] synonym: "congenital corneal anaesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and mental retardation" RELATED OMO:0003005 [] synonym: "congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and intellectual disability" RELATED [GARD:0004636] synonym: "congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and mental retardation" RELATED DEPRECATED [GARD:0004636] synonym: "corneal anesthesia-deafness-intellectual disability syndrome" EXACT [Orphanet:1051] synonym: "corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and intellectual disability" RELATED [OMIM:122430] synonym: "corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation" RELATED DEPRECATED [OMIM:122430] synonym: "Ramos Arroyo Clark syndrome" RELATED [GARD:0004636] synonym: "Ramos-Arroyo syndrome" EXACT [OMIM:122430] xref: MESH:C535286 {source="MONDO:equivalentTo"} xref: OMIM:122430 {source="Orphanet:1051/e", source="MONDO:equivalentTo", source="Orphanet:1051"} xref: Orphanet:1051 {source="MONDO:equivalentTo", source="OMIM:122430"} xref: UMLS:C2930866 {source="MONDO:equivalentTo", source="OMIM:122430", source="Orphanet:1051"} is_a: MONDO:0015159 {source="Orphanet:1051"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C535286 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930866 property_value: exactMatch https://omim.org/entry/122430 property_value: exactMatch Orphanet:1051 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:1051"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0007383 name: Stern-Lubinsky-Durrie syndrome def: "Stern-Lubinsky-Durrie syndrome is characterized by corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems, and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait." [Orphanet:3194] subset: ordo_malformation_syndrome {source="Orphanet:3194"} synonym: "Cdo syndrome" RELATED [OMIM:122440] synonym: "corneal dystrophy epithelial and short stature" RELATED [GARD:0001531] synonym: "corneal dystrophy, epithelial, with skin and skeletal changes" RELATED [OMIM:122440] synonym: "corneo-dermato-osseous syndrome" EXACT [Orphanet:3194] synonym: "CORNEODERMATOOSSEOUS syndrome" RELATED [OMIM:122440] synonym: "Stern Lubinsky Durrie syndrome" RELATED [GARD:0001531] xref: MESH:C537488 {source="Orphanet:3194/e", source="MONDO:equivalentTo", source="Orphanet:3194"} xref: OMIM:122440 {source="Orphanet:3194/e", source="MONDO:equivalentTo", source="Orphanet:3194"} xref: Orphanet:3194 {source="MONDO:equivalentTo", source="OMIM:122440"} xref: SCTID:723584003 {source="MONDO:equivalentTo"} is_a: MONDO:0019287 {source="Orphanet:3194"} ! ectodermal dysplasia syndrome is_a: MONDO:0020215 {source="Orphanet:3194"} ! syndromic corneal dystrophy property_value: exactMatch http://identifiers.org/mesh/C537488 property_value: exactMatch http://identifiers.org/snomedct/723584003 property_value: exactMatch https://omim.org/entry/122440 property_value: exactMatch Orphanet:3194 [Term] id: MONDO:0007384 name: congenital trigeminal anesthesia def: "Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum)." [Orphanet:231013] subset: ordo_disease {source="Orphanet:231013"} synonym: "corneal hypesthesia, familial" RELATED [OMIM:122450] synonym: "familial trigeminal anaesthesia" RELATED OMO:0003005 [] synonym: "familial trigeminal anesthesia" RELATED [GARD:0010034] synonym: "trigeminal anesthesia, familial" RELATED [OMIM:122450] xref: MESH:C536440 {source="MONDO:equivalentTo"} xref: OMIM:122450 {source="Orphanet:231013", source="MONDO:equivalentTo", source="Orphanet:231013/e"} xref: Orphanet:231013 {source="OMIM:122450", source="MONDO:equivalentTo"} xref: SCTID:763218005 {source="MONDO:equivalentTo"} xref: UMLS:C1852541 {source="OMIM:122450", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0020127 {source="Orphanet:231013"} ! hereditary peripheral neuropathy is_a: MONDO:0957003 ! hereditary neuro-ophthalmological disease property_value: exactMatch http://identifiers.org/mesh/C536440 property_value: exactMatch http://identifiers.org/snomedct/763218005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852541 property_value: exactMatch https://omim.org/entry/122450 property_value: exactMatch Orphanet:231013 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0007392 name: coxoauricular syndrome def: "Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981." [Orphanet:1508] subset: gard_rare {source="GARD:0001558"} subset: ordo_malformation_syndrome {source="Orphanet:1508"} synonym: "coxoauricular syndrome" EXACT [OMIM:122780] xref: MESH:C565148 {source="MONDO:equivalentTo"} xref: OMIM:122780 {source="Orphanet:1508/e", source="MONDO:equivalentTo", source="Orphanet:1508"} xref: Orphanet:1508 {source="OMIM:122780", source="MONDO:equivalentTo"} xref: SCTID:732248005 {source="MONDO:equivalentTo"} xref: UMLS:C1852513 {source="OMIM:122780", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1508"} is_a: EFO:0004260 {source="Orphanet:1508"} ! bone disease property_value: exactMatch http://identifiers.org/mesh/C565148 property_value: exactMatch http://identifiers.org/snomedct/732248005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852513 property_value: exactMatch https://omim.org/entry/122780 property_value: exactMatch Orphanet:1508 property_value: excluded_subClassOf MONDO:0019700 {source="Orphanet:1508"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1558/coxoauricular-syndrome xsd:anyURI {source="GARD:0001558"} [Term] id: MONDO:0007395 name: craniofacial-deafness-hand syndrome def: "Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome that can be distinguished from the latter by its imaging findings and distinct facial features." [Orphanet:1529] subset: gard_rare {source="GARD:0001571"} subset: ordo_malformation_syndrome {source="Orphanet:1529"} synonym: "CDHS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:122880, Orphanet:1529] synonym: "craniofacial deafness hand syndrome" RELATED [GARD:0001571] synonym: "craniofacial-deafness-hand syndrome" EXACT [MONDO:Lexical, OMIM:122880] synonym: "features of flat facial profile, hypertelorism, hypoplastic nose with slitlike nares, and a sensorineural hearing loss" RELATED [GARD:0001571] synonym: "Sommer-Young-Wee-Frye syndrome" EXACT [Orphanet:1529] xref: DOID:0111336 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536453 {source="Orphanet:1529/e", source="MONDO:equivalentTo", source="Orphanet:1529"} xref: OMIM:122880 {source="Orphanet:1529/e", source="MONDO:equivalentTo", source="Orphanet:1529"} xref: Orphanet:1529 {source="MONDO:equivalentTo", source="OMIM:122880"} xref: SCTID:702362004 {source="MONDO:equivalentTo"} is_a: MONDO:0015161 {source="Orphanet:1529"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch DOID:0111336 property_value: exactMatch http://identifiers.org/mesh/C536453 property_value: exactMatch http://identifiers.org/snomedct/702362004 property_value: exactMatch https://omim.org/entry/122880 property_value: exactMatch Orphanet:1529 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1571/craniofacial-deafness-hand-syndrome xsd:anyURI {source="GARD:0001571"} [Term] id: MONDO:0007396 name: dysostosis, Stanescu type def: "Stanescu type dysostosis is a rare form of osteosclerosis." [Orphanet:1798] subset: ordo_malformation_syndrome {source="Orphanet:1798"} synonym: "autosomal dominant osteosclerosis, Stanescu type" EXACT [Orphanet:1798] synonym: "craniofacial dysostosis with diaphyseal hyperplasia" RELATED [OMIM:122900] synonym: "craniofacial dysostosis-diaphyseal hyperplasia syndrome" EXACT [Orphanet:1798] synonym: "dysostosis Stanescu type" RELATED [GARD:0002016] synonym: "osteosclerosis, Stanescu type" RELATED [OMIM:122900] synonym: "Stanescu osteosclerosis" EXACT [Orphanet:1798] xref: MESH:C562974 {source="MONDO:equivalentTo"} xref: OMIM:122900 {source="MONDO:equivalentTo", source="Orphanet:1798", source="Orphanet:1798/e"} xref: Orphanet:1798 {source="MONDO:equivalentTo", source="OMIM:122900"} xref: SCTID:254124008 {source="MONDO:equivalentTo"} xref: UMLS:C0432263 {source="MONDO:equivalentTo", source="Orphanet:1798", source="MONDO:ncbi_mim2gene_medline", source="OMIM:122900"} is_a: MONDO:0002933 {source="Orphanet:1798"} ! osteosclerosis property_value: exactMatch http://identifiers.org/mesh/C562974 property_value: exactMatch http://identifiers.org/snomedct/254124008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432263 property_value: exactMatch https://omim.org/entry/122900 property_value: exactMatch Orphanet:1798 property_value: excluded_subClassOf MONDO:0019703 {source="Orphanet:1798"} [Term] id: MONDO:0007399 name: TWIST1-related craniosynostosis def: "Any craniosynostosis in which the cause of the disease is a mutation in the TWIST1 gene." [https://clinicalgenome.org/affiliation/40059/, MONDO:patterns/disease_series_by_gene, PMID:17343269] synonym: "craniostenosis" RELATED [OMIM:123100] synonym: "craniosynostosis 1" EXACT [MONDO:Lexical, OMIM:123100] synonym: "craniosynostosis type 1" EXACT [MONDORULE:1, OMIM:123100] synonym: "CRS" RELATED ABBREVIATION [OMIM:123100] synonym: "CRS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:123100] synonym: "TWIST1-related craniosynostosis" EXACT [] xref: OMIM:123100 {source="MONDO:equivalentTo"} xref: SCTID:57219006 {source="MONDO:equivalentTo"} xref: UMLS:CN029978 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018112 {source="Orphanet:35093/btnt"} ! isolated scaphocephaly is_a: MONDO:0018113 {source="Orphanet:35098/btnt"} ! isolated plagiocephaly is_a: MONDO:0018114 {source="Orphanet:35099/btnt"} ! isolated brachycephaly is_a: MONDO:0018971 {source="Orphanet:63440/btnt"} ! isolated oxycephaly property_value: exactMatch http://identifiers.org/snomedct/57219006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN029978 property_value: exactMatch https://omim.org/entry/123100 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2659 xsd:anyURI [Term] id: MONDO:0007400 name: Jackson-Weiss syndrome def: "Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients." [Orphanet:1540] subset: gard_rare {source="GARD:0006796"} subset: ordo_malformation_syndrome {source="Orphanet:1540"} synonym: "craniosynostosis, midfacial hypoplasia, and foot abnormalities" RELATED [OMIM:123150] synonym: "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome" EXACT [Orphanet:1540] synonym: "Jackson-Weiss syndrome" EXACT [MONDO:Lexical, OMIM:123150] synonym: "JWS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:123150, Orphanet:1540] xref: DOID:0111337 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537559 {source="Orphanet:1540", source="MONDO:equivalentTo", source="Orphanet:1540/e"} xref: NCIT:C123814 {source="MONDO:equivalentTo"} xref: OMIM:123150 {source="Orphanet:1540", source="MONDO:equivalentTo", source="Orphanet:1540/e"} xref: Orphanet:1540 {source="OMIM:123150", source="MONDO:equivalentTo"} xref: SCTID:709105005 {source="MONDO:equivalentTo"} xref: UMLS:C0795998 {source="NCIT:C123814", source="OMIM:123150", source="Orphanet:1540", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1540/e"} is_a: MONDO:0019796 {source="Orphanet:1540"} ! acrocephalosyndactyly property_value: exactMatch DOID:0111337 property_value: exactMatch http://identifiers.org/mesh/C537559 property_value: exactMatch http://identifiers.org/snomedct/709105005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795998 property_value: exactMatch https://omim.org/entry/123150 property_value: exactMatch NCIT:C123814 property_value: exactMatch Orphanet:1540 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6796/jackson-weiss-syndrome xsd:anyURI {source="GARD:0006796"} [Term] id: MONDO:0007401 name: craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome def: "Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant." [Orphanet:1538] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1538"} synonym: "Braddock Jones Superneau syndrome" RELATED [GARD:0000998] synonym: "Braddock-Jones-Superneau syndrome" EXACT [GARD:0001592, Orphanet:1538] synonym: "craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome" EXACT [GARD:0001592] synonym: "Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus" RELATED [GARD:0001592] synonym: "HDCPH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:123155] synonym: "hydrocephalus, autosomal dominant" RELATED [MONDO:Lexical, OMIM:123155] synonym: "sagittal craniosynostosis, Dandy-Walker malformation and hydrocephalus" RELATED [GARD:0001592] xref: MESH:C563973 {source="MONDO:equivalentTo"} xref: OMIM:123155 {source="Orphanet:1538/e", source="MONDO:equivalentTo", source="Orphanet:1538", source="GARD:0001592"} xref: Orphanet:1538 {source="MONDO:equivalentTo", source="OMIM:123155", source="GARD:0001592"} xref: SCTID:720813007 {source="MONDO:equivalentTo"} xref: UMLS:CN199608 {source="MONDO:equivalentTo"} is_a: EFO:0005774 ! brain disease is_a: MONDO:0015704 {source="Orphanet:1538"} ! familial scaphocephaly syndrome is_a: MONDO:0020022 ! central nervous system malformation relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation property_value: exactMatch http://identifiers.org/mesh/C563973 property_value: exactMatch http://identifiers.org/snomedct/720813007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199608 property_value: exactMatch https://omim.org/entry/123155 property_value: exactMatch Orphanet:1538 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1592/dandy-walker-malformation-with-sagittal-craniosynostosis-and-hydrocephalus xsd:anyURI {source="GARD:0001592"} [Term] id: MONDO:0007403 name: inherited Creutzfeldt-Jakob disease def: "Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia." [Orphanet:282166] subset: ordo_disease {source="Orphanet:282166"} synonym: "CJD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:123400] synonym: "Creutzfeldt-Jakob disease" RELATED [MONDO:Lexical, OMIM:123400] synonym: "Creutzfeldt-Jakob disease, familial" RELATED [OMIM:123400] synonym: "Creutzfeldt-Jakob disease, Heidenhain variant" RELATED [OMIM:123400] synonym: "Creutzfeldt-Jakob disease, sporadic" RELATED [OMIM:123400] synonym: "Creutzfeldt-Jakob disease, variant" RELATED [OMIM:123400] synonym: "Creutzfeldt-Jakob disease, variant, resistance to" EXACT [OMIM:123400, OMIM:genemap2] synonym: "hereditary Creutzfeldt Jacob disease" EXACT [MONDO:patterns/hereditary] synonym: "inherited CJD" EXACT [Orphanet:282166] xref: OMIM:123400 {source="MONDO:equivalentTo", source="Orphanet:282166", source="Orphanet:282166/e"} xref: Orphanet:282166 {source="MONDO:equivalentTo", source="OMIM:123400"} xref: SCTID:715807002 {source="MONDO:equivalentTo"} xref: UMLS:CN202816 {source="MONDO:equivalentTo"} is_a: EFO:0004226 {source="MONDO:Redundant"} ! Creutzfeldt Jacob Disease is_a: EFO:0004280 ! movement disorder is_a: MONDO:0017234 {source="MONDO:Redundant", source="Orphanet:282166"} ! inherited prion disease intersection_of: EFO:0004226 ! Creutzfeldt Jacob Disease intersection_of: has_characteristic MONDO:0021152 ! inherited relationship: disease_arises_from_feature EFO:0005772 ! neurodegenerative disease property_value: exactMatch http://identifiers.org/snomedct/715807002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202816 property_value: exactMatch https://omim.org/entry/123400 property_value: exactMatch Orphanet:282166 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007404 name: Cri-du-chat syndrome def: "Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism." [Orphanet:281] subset: ordo_malformation_syndrome {source="Orphanet:281"} synonym: "5p deletion syndrome" EXACT [DOID:12580, NCIT:C34518] synonym: "5p minus syndrome" RELATED [GARD:0006213] synonym: "5p partial monosomy syndrome" EXACT [NCIT:C34518] synonym: "5p- syndrome" RELATED [GARD:0006213] synonym: "Cat Cry syndrome" RELATED [OMIM:123450] synonym: "Cat-Cry syndrome" EXACT [NCIT:C34518] synonym: "chromosome 5 short arm deletion syndrome" EXACT [DOID:12580] synonym: "chromosome 5P deletion syndrome" RELATED [OMIM:123450] synonym: "chromosome 5p deletion syndrome" EXACT [DOID:12580] synonym: "chromosome 5p- syndrome" RELATED [GARD:0006213] synonym: "Cri du chat syndrome" EXACT [Orphanet:281] synonym: "Cri-du-chat syndrome" EXACT [DOID:12580, ICD9CM:758.31, OMIM:123450] synonym: "deletion 5p" EXACT [Orphanet:281] synonym: "monosomy 5p" RELATED [Orphanet:281] synonym: "monosomy type 5p" EXACT [MONDORULE:4, Orphanet:281] xref: DECIPHER:2 {source="MONDO:equivalentTo"} xref: DOID:12580 {source="MONDO:equivalentTo"} xref: ICD9:758.31 {source="DOID:12580", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:758.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10011385 {source="Orphanet:281", source="Orphanet:281/e"} xref: MESH:D003410 {source="DOID:12580", source="MONDO:equivalentTo", source="Orphanet:281", source="Orphanet:281/e"} xref: NCIT:C34518 {source="DOID:12580", source="MONDO:equivalentTo"} xref: OMIM:123450 {source="DOID:12580", source="MONDO:equivalentTo", source="Orphanet:281", source="Orphanet:281/e"} xref: Orphanet:281 {source="OMIM:123450", source="MONDO:equivalentTo"} xref: SCTID:70173007 {source="DOID:12580", source="MONDO:equivalentTo"} xref: UMLS:C0010314 {source="NCIT:C34518", source="OMIM:123450", source="DOID:12580", source="MONDO:equivalentTo", source="Orphanet:281", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:281/e"} xref: UMLS:CN776901 {source="MONDO:equivalentTo"} is_a: MONDO:0015368 ! neuro-ophthalmological disease is_a: MONDO:0016887 {source="Orphanet:281"} ! partial deletion of the short arm of chromosome 5 is_a: MONDO:0020165 {source="Orphanet:281"} ! syndromic epicanthus property_value: closeMatch http://identifiers.org/meddra/10011385 property_value: exactMatch DOID:12580 property_value: exactMatch http://identifiers.org/mesh/D003410 property_value: exactMatch http://identifiers.org/snomedct/70173007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010314 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776901 property_value: exactMatch https://omim.org/entry/123450 property_value: exactMatch NCIT:C34518 property_value: exactMatch Orphanet:281 property_value: excluded_subClassOf MONDO:0020226 {source="Orphanet:281"} [Term] id: MONDO:0007405 name: Crouzon syndrome def: "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." [Orphanet:207] subset: gard_rare {source="GARD:0006206"} subset: ordo_malformation_syndrome {source="Orphanet:207"} synonym: "Cfd1" RELATED [GARD:0006206] synonym: "craniofacial dysostosis" EXACT [DOID:2339] synonym: "craniofacial dysostosis type 1" RELATED [GARD:0006206] synonym: "craniofacial dysostosis, type 1" RELATED [OMIM:123500] synonym: "Crouzon craniofacial dysostosis" EXACT [OMIM:123500, Orphanet:207] synonym: "Crouzon disease" RELATED [GARD:0006206] synonym: "Crouzon syndrome" EXACT [OMIM:123500] synonym: "Crouzon's disease" RELATED [DOID:2339] xref: DOID:2339 {source="MONDO:equivalentTo"} xref: MESH:D003394 {source="MONDO:equivalentTo", source="DOID:2339"} xref: NCIT:C84653 {source="MONDO:equivalentTo", source="DOID:2339"} xref: OMIM:123500 {source="Orphanet:207", source="MONDO:equivalentTo", source="Orphanet:207/e", source="DOID:2339"} xref: Orphanet:207 {source="MONDO:equivalentTo", source="OMIM:123500"} xref: SCTID:28861008 {source="MONDO:equivalentTo", source="DOID:2339"} xref: UMLS:CN200892 {source="MONDO:equivalentTo"} is_a: MONDO:0015338 {source="Orphanet:207", source="PMID:31633310"} ! syndromic craniosynostosis property_value: exactMatch DOID:2339 property_value: exactMatch http://identifiers.org/mesh/D003394 property_value: exactMatch http://identifiers.org/snomedct/28861008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200892 property_value: exactMatch https://omim.org/entry/123500 property_value: exactMatch NCIT:C84653 property_value: exactMatch Orphanet:207 property_value: excluded_subClassOf MONDO:0015368 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6206/crouzon-syndrome xsd:anyURI {source="GARD:0006206"} [Term] id: MONDO:0007409 name: cryptomicrotia-brachydactyly-excess fingertip arch syndrome def: "Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988." [Orphanet:1547] subset: ordo_malformation_syndrome {source="Orphanet:1547"} synonym: "bilateral cryptomicrotia, brachytelomesophalangy, hypoplastic toe nails, and excess fingertip arch" RELATED [GARD:0008174] synonym: "Cryptomicrotia brachydactyly syndrome" RELATED [GARD:0008174] synonym: "Cryptomicrotia brachydactyly syndrome excess fingertip arch" RELATED [GARD:0008174] synonym: "CRYPTOMICROTIA-brachydactyly syndrome" RELATED [OMIM:123560] synonym: "Cryptomicrotia-brachydactyly syndrome" EXACT [Orphanet:1547] synonym: "Tonoki Ohura Niikawa syndrome" RELATED [GARD:0008174] synonym: "Tonoki-Ohura-Niikawa syndrome" EXACT [Orphanet:1547] xref: MESH:C536219 {source="MONDO:equivalentTo"} xref: OMIM:123560 {source="MONDO:equivalentTo", source="Orphanet:1547", source="Orphanet:1547/e"} xref: Orphanet:1547 {source="OMIM:123560", source="MONDO:equivalentTo"} xref: SCTID:725096002 {source="MONDO:equivalentTo"} xref: UMLS:C1852454 {source="OMIM:123560", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1547"} is_a: MONDO:0015161 {source="Orphanet:1547"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C536219 property_value: exactMatch http://identifiers.org/snomedct/725096002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852454 property_value: exactMatch https://omim.org/entry/123560 property_value: exactMatch Orphanet:1547 [Term] id: MONDO:0007410 name: isolated cryptophthalmia def: "Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant." [Orphanet:91396] subset: ordo_morphological_anomaly {source="Orphanet:91396"} synonym: "ankyloblepharon, simple" RELATED [OMIM:123570] synonym: "cryptophthalmos with microphthalmia and Peters anomaly" RELATED [OMIM:123570] synonym: "cryptophthalmos, unilateral or bilateral, isolated" RELATED [OMIM:123570] synonym: "nonsyndromic cryptophthalmia" EXACT [MONDO:patterns/isolated] xref: DOID:0111717 {source="MONDO:equivalentTo"} xref: MESH:C565138 {source="MONDO:equivalentTo"} xref: OMIM:123570 {source="Orphanet:91396", source="MONDO:equivalentTo", source="Orphanet:91396/e"} xref: Orphanet:91396 {source="OMIM:123570", source="MONDO:equivalentTo"} xref: SCTID:718691008 {source="MONDO:equivalentTo"} xref: UMLS:C1852453 {source="OMIM:123570", source="Orphanet:91396", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015217 {source="Orphanet:91396"} ! non-syndromic developmental defect of the eye is_a: MONDO:0020153 {source="MONDO:Redundant", source="Orphanet:91396"} ! cryptophthalmia intersection_of: MONDO:0020153 ! cryptophthalmia intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation property_value: exactMatch DOID:0111717 property_value: exactMatch http://identifiers.org/mesh/C565138 property_value: exactMatch http://identifiers.org/snomedct/718691008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852453 property_value: exactMatch https://omim.org/entry/123570 property_value: exactMatch Orphanet:91396 [Term] id: MONDO:0007412 name: Beare-Stevenson cutis gyrata syndrome def: "A severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy." [Orphanet:1555] subset: gard_rare {source="GARD:0000332"} subset: ordo_malformation_syndrome {source="Orphanet:1555"} synonym: "Beare Stevenson syndrome" RELATED [GARD:0000332] synonym: "Beare-Stevenson cutis gyrata syndrome" EXACT [MONDO:Lexical, OMIM:123790, Orphanet:1555] synonym: "Beare-Stevenson syndrome" RELATED [OMIM:123790] synonym: "BSTVS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:123790] synonym: "cutis gyrata - acanthosis nigricans - craniosynostosis" RELATED [GARD:0000332] synonym: "cutis gyrata syndrome of Beare and Stevenson" RELATED [OMIM:123790] synonym: "cutis gyrata-acanthosis nigricans-craniosynostosis syndrome" RELATED [GARD:0000332] xref: DOID:0050660 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C565129 {source="MONDO:equivalentTo"} xref: NCIT:C123813 {source="MONDO:equivalentTo"} xref: OMIM:123790 {source="DOID:0050660", source="MONDO:equivalentTo", source="Orphanet:1555", source="Orphanet:1555/e"} xref: Orphanet:1555 {source="OMIM:123790", source="MONDO:equivalentTo"} xref: SCTID:703528008 {source="MONDO:equivalentTo"} xref: UMLS:C1852406 {source="NCIT:C123813", source="OMIM:123790", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1555"} is_a: MONDO:0000426 {source="DOID:0050660", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0015161 {source="Orphanet:1555"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015338 {source="Orphanet:1555", source="PMID:31633310"} ! syndromic craniosynostosis property_value: exactMatch DOID:0050660 property_value: exactMatch http://identifiers.org/mesh/C565129 property_value: exactMatch http://identifiers.org/snomedct/703528008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852406 property_value: exactMatch https://omim.org/entry/123790 property_value: exactMatch NCIT:C123813 property_value: exactMatch Orphanet:1555 property_value: excluded_subClassOf MONDO:0005093 {source="MONDO:0018798-obsoleted"} property_value: excluded_subClassOf MONDO:0021154 {source="Orphanet:1555"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5682 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/332/beare-stevenson-cutis-gyrata-syndrome xsd:anyURI {source="GARD:0000332"} [Term] id: MONDO:0007413 name: Cyprus facial-neuromusculoskeletal syndrome def: "Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects." [Orphanet:2674] subset: gard_rare {source="GARD:0009487"} subset: ordo_malformation_syndrome {source="Orphanet:2674"} synonym: "CYPRUS facial neuromusculoskeletal syndrome" RELATED [OMIM:123853] synonym: "unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects" RELATED [GARD:0009487] xref: MESH:C536229 {source="Orphanet:2674", source="MONDO:equivalentTo", source="Orphanet:2674/e"} xref: OMIM:123853 {source="Orphanet:2674", source="MONDO:equivalentTo", source="Orphanet:2674/e"} xref: Orphanet:2674 {source="MONDO:equivalentTo", source="OMIM:123853"} xref: SCTID:732261005 {source="MONDO:equivalentTo"} xref: UMLS:C1852396 {source="Orphanet:2674", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2674/e", source="OMIM:123853"} is_a: MONDO:0015161 {source="Orphanet:2674"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0020120 {source="Orphanet:2674", source="Orphanet:2674/inferred"} ! skeletal muscle disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C536229 property_value: exactMatch http://identifiers.org/snomedct/732261005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852396 property_value: exactMatch https://omim.org/entry/123853 property_value: exactMatch Orphanet:2674 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9487/cyprus-facial-neuromusculoskeletal-syndrome xsd:anyURI {source="GARD:0009487"} [Term] id: MONDO:0007414 name: Gorham-Stout disease def: "Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture." [Orphanet:73] subset: ordo_malformation_syndrome {source="Orphanet:73"} synonym: "cystic angiomatosis of bone diffuse" RELATED [GARD:0006542] synonym: "cystic angiomatosis of bone, diffuse" RELATED [OMIM:123880] synonym: "Gorham disease" EXACT [Orphanet:73] synonym: "Gorham syndrome" EXACT [Orphanet:73] synonym: "Gorham-Stout disease" EXACT [OMIM:123880] synonym: "idiopathic massive osteolysis" EXACT [Orphanet:73] synonym: "osteolysis massive" RELATED [GARD:0006542] synonym: "osteolysis, massive" RELATED [OMIM:123880] synonym: "progressive massive osteolysis" EXACT [Orphanet:73] synonym: "vanishing bone disease" EXACT [Orphanet:73] xref: ICD9:733.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10071283 {source="Orphanet:73/e", source="Orphanet:73"} xref: OMIM:123880 {source="Orphanet:73/e", source="MONDO:equivalentTo", source="Orphanet:73"} xref: Orphanet:73 {source="OMIM:123880", source="MONDO:equivalentTo"} xref: SCTID:1515008 {source="MONDO:equivalentTo"} is_a: EFO:0005755 {source="Orphanet:73"} ! rheumatic disease is_a: MONDO:0000631 ! bone benign neoplasm is_a: MONDO:0002013 {source="Orphanet:73"} ! lymphangioma is_a: MONDO:0003157 {source="MESH:D010015"} ! disappearing bone disease is_a: MONDO:0016524 {source="Orphanet:73"} ! congenital vascular bone syndrome is_a: MONDO:0023603 ! hereditary disorder of connective tissue is_a: MONDO:0024499 ! vascular bone neoplasm is_a: MONDO:0800089 {source="PMID:31633310"} ! primary bone dysplasia with disorganized development of skeletal components property_value: closeMatch http://identifiers.org/meddra/10071283 property_value: exactMatch http://identifiers.org/snomedct/1515008 property_value: exactMatch https://omim.org/entry/123880 property_value: exactMatch Orphanet:73 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0007415 name: mitochondrial complex III deficiency nuclear type 1 def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the BCS1L gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare synonym: "BCS1L mitochondrial complex III deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Complex 3 mitochondrial respiratory chain deficiency" RELATED [GARD:0008295] synonym: "MC3DN1" RELATED ABBREVIATION [MESH:C565128, MONDO:Lexical, OMIM:124000] synonym: "mitochondrial Complex 3 deficiency, nuclear type 1" RELATED [OMIM:124000] synonym: "mitochondrial complex III deficiency" RELATED [GARD:0008295] synonym: "mitochondrial complex III deficiency caused by mutation in BCS1L" EXACT [MONDO:design_pattern] synonym: "mitochondrial complex III deficiency, nuclear type 1" RELATED [MESH:C565128, MONDO:Lexical, OMIM:124000] xref: DOID:0080111 {source="MONDO:equivalentTo"} xref: MESH:C565128 {source="MONDO:equivalentTo"} xref: OMIM:124000 {source="DOID:0080111", source="GARD:0008295", source="MONDO:equivalentTo"} is_a: MONDO:0020811 {source="MONDO:cjm"} ! mitochondrial complex III deficiency, nuclear type property_value: exactMatch DOID:0080111 property_value: exactMatch http://identifiers.org/mesh/C565128 property_value: exactMatch https://omim.org/entry/124000 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8295/mitochondrial-complex-iii-deficiency xsd:anyURI {source="GARD:0008295"} [Term] id: MONDO:0007417 name: Darier disease def: "Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies." [Orphanet:218] subset: ordo_disease {source="Orphanet:218"} synonym: "DAR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:124200] synonym: "dar" RELATED [OMIM:124200] synonym: "Darier disease" EXACT [OMIM:124200] synonym: "Darier disease, acral hemorrhagic type" RELATED [OMIM:124200] synonym: "Darier disease, segmental" RELATED [OMIM:124200] synonym: "Darier White disease" RELATED [GARD:0006243] synonym: "Darier's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:2734, MONDO:LexicalVariant, SCTID:268355000] synonym: "Darier-White disease" EXACT [DOID:2734, MONDO:Lexical, OMIM:124200, Orphanet:218] synonym: "keratosis follicularis" EXACT [OMIM:124200, Orphanet:218] xref: DOID:2734 {source="MONDO:equivalentTo"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10023369 {source="Orphanet:218", source="Orphanet:218/e"} xref: MESH:D007644 {source="https://orcid.org/0000-0003-1967-3726", source="Orphanet:218", source="MONDO:equivalentTo", source="DOID:2734", source="Orphanet:218/e"} xref: NCIT:C84665 {source="MONDO:equivalentTo", source="DOID:2734"} xref: OMIM:124200 {source="Orphanet:218", source="MONDO:equivalentTo", source="DOID:2734", source="Orphanet:218/e"} xref: Orphanet:218 {source="MONDO:equivalentTo", source="OMIM:124200"} xref: SCTID:48611009 {source="MONDO:equivalentTo", source="DOID:2734"} xref: UMLS:C0022595 {source="Orphanet:218", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:124200", source="DOID:2734", source="Orphanet:218/e", source="NCIT:C84665"} xref: Wikipedia:Darier%27s_disease is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease property_value: closeMatch http://identifiers.org/meddra/10023369 property_value: exactMatch DOID:2734 property_value: exactMatch http://identifiers.org/mesh/D007644 property_value: exactMatch http://identifiers.org/snomedct/48611009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022595 property_value: exactMatch https://omim.org/entry/124200 property_value: exactMatch NCIT:C84665 property_value: exactMatch Orphanet:218 [Term] id: MONDO:0007420 name: autosomal dominant deafness - onychodystrophy syndrome def: "Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." [Orphanet:79499] subset: gard_rare {source="GARD:0004732"} subset: ordo_malformation_syndrome {source="Orphanet:79499"} synonym: "autosomal dominant deafness-onychodystrophy syndrome" EXACT [] synonym: "DDOD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:124480] synonym: "DDOD syndrome" EXACT [Orphanet:79499] synonym: "Ddod syndrome" RELATED [OMIM:124480] synonym: "deafness and onychodystrophy, dominant form" RELATED [GARD:0004732] synonym: "deafness, congenital, and onychodystrophy, autosomal dominant" RELATED [MONDO:Lexical, OMIM:124480] synonym: "deafness, congenital, with onychodystrophy, autosomal dominant" RELATED [OMIM:124480] synonym: "deafness-onychodystrophy syndrome, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] synonym: "familial ectodermal dysplasia with sensori-neural deafness and other anomalies" RELATED [GARD:0004732] synonym: "Robinson Miller Bensimon syndrome" RELATED [GARD:0004732] synonym: "Robinson-Miller-Bensimon syndrome" RELATED [GARD:0004732] xref: DOID:0080720 {source="MONDO:equivalentTo"} xref: OMIM:124480 {source="Orphanet:79499/e", source="MONDO:equivalentTo", source="Orphanet:79499"} xref: Orphanet:79499 {source="OMIM:124480", source="MONDO:equivalentTo"} xref: UMLS:C2675730 {source="OMIM:124480", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:79499"} is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0017922 {source="MONDO:Redundant", source="Orphanet:79499"} ! deafness-onychodystrophy syndrome property_value: exactMatch DOID:0080720 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675730 property_value: exactMatch https://omim.org/entry/124480 property_value: exactMatch Orphanet:79499 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4732/autosomal-dominant-deafness-onychodystrophy-syndrome xsd:anyURI {source="GARD:0004732"} [Term] id: MONDO:0007421 name: deafness-ear malformation-facial palsy syndrome def: "Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant." [Orphanet:3232] subset: ordo_malformation_syndrome {source="Orphanet:3232"} synonym: "deafness, conductive stapedial, with EAR malformation and facial palsy" RELATED [OMIM:124490] synonym: "Sellars-Beighton syndrome" EXACT [Orphanet:3232] xref: MESH:C565123 {source="MONDO:equivalentTo"} xref: OMIM:124490 {source="Orphanet:3232", source="MONDO:equivalentTo", source="Orphanet:3232/e"} xref: Orphanet:3232 {source="MONDO:equivalentTo", source="OMIM:124490"} xref: SCTID:716243005 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="Orphanet:3232/inferred"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C565123 property_value: exactMatch http://identifiers.org/snomedct/716243005 property_value: exactMatch https://omim.org/entry/124490 property_value: exactMatch Orphanet:3232 [Term] id: MONDO:0007422 name: keratoderma hereditarium mutilans subset: ordo_disease {source="Orphanet:494"} synonym: "deafness, congenital, with KERATOPACHYDERMIA and constrictions of fingers and toes" RELATED [OMIM:124500] synonym: "keratoderma hereditarium mutilans" EXACT [OMIM:124500] synonym: "KHM" RELATED ABBREVIATION [GARD:0003092] synonym: "mutilating keratoderma" RELATED [OMIM:124500] synonym: "mutilating keratoderma of Vohwinkel" EXACT [Orphanet:494] synonym: "mutilating keratoderma plus deafness" EXACT [Orphanet:494] synonym: "PPK mutilans and deafness" EXACT [Orphanet:494] synonym: "Vohwinkel syndrome" EXACT [OMIM:124500, Orphanet:494] synonym: "VOWNKL" RELATED ABBREVIATION [OMIM:124500] xref: DOID:0111339 {source="MONDO:equivalentTo"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536457 {source="MONDO:equivalentTo"} xref: OMIM:124500 {source="Orphanet:494/e", source="MONDO:equivalentTo", source="Orphanet:494"} xref: Orphanet:494 {source="MONDO:equivalentTo", source="OMIM:124500"} xref: SCTID:24559001 {source="MONDO:equivalentTo"} is_a: MONDO:0017670 {source="Orphanet:494"} ! autosomal dominant diffuse mutilating palmoplantar keratoderma property_value: exactMatch DOID:0111339 property_value: exactMatch http://identifiers.org/mesh/C536457 property_value: exactMatch http://identifiers.org/snomedct/24559001 property_value: exactMatch https://omim.org/entry/124500 property_value: exactMatch Orphanet:494 [Term] id: MONDO:0007424 name: autosomal dominant nonsyndromic hearing loss 1 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIAPH1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant deafness 1" NARROW [DOID:0110541] synonym: "autosomal dominant nonsyndromic deafness 1" NARROW [OMIM:124900] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in DIAPH1" NARROW [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 1" NARROW [DOID:0110541, MONDORULE:1] synonym: "deafness, autosomal dominant 1" NARROW [MONDO:Lexical, OMIM:124900] synonym: "deafness, autosomal dominant 1, with or without thrombocytopenia" NARROW [OMIM:124900, OMIM:genemap2] synonym: "deafness, autosomal dominant type 1" NARROW [MONDORULE:1, OMIM:124900] synonym: "deafness, progressive Low tone" NARROW [OMIM:124900] synonym: "DFNA1" NARROW ABBREVIATION [DOID:0110541, MONDO:Lexical, OMIM:124900] synonym: "DIAPH1 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary Low frequency hearing loss" RELATED [OMIM:124900] synonym: "hereditary low frequency hearing loss 1" EXACT [DOID:0110541] synonym: "Konigsmark syndrome" EXACT [DOID:0110541, OMIM:124900] synonym: "LFHL1" EXACT ABBREVIATION [DOID:0110541] xref: DOID:0110541 {source="MONDO:equivalentTo"} xref: MESH:C565121 {source="MONDO:equivalentTo"} xref: OMIM:124900 {source="MONDO:equivalentTo", source="DOID:0110541"} xref: UMLS:C1852282 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:124900"} is_a: MONDO:0019587 {source="DC-OMIM:124900", source="DOID:0110541", source="MONDO:Redundant", source="OMIM:124900"} ! autosomal dominant nonsyndromic hearing loss property_value: exactMatch DOID:0110541 property_value: exactMatch http://identifiers.org/mesh/C565121 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852282 property_value: exactMatch https://omim.org/entry/124900 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/551 xsd:anyURI [Term] id: MONDO:0007428 name: deafness-craniofacial syndrome def: "Deafness-craniofacial syndrome is characterized by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant." [Orphanet:3241] subset: gard_rare {source="GARD:0001686"} subset: ordo_malformation_syndrome {source="Orphanet:3241"} synonym: "deafness craniofacial syndrome" RELATED [GARD:0001686] synonym: "deafness-craniofacial syndrome" EXACT [OMIM:125230] xref: MESH:C565118 {source="MONDO:equivalentTo"} xref: OMIM:125230 {source="Orphanet:3241/e", source="MONDO:equivalentTo", source="Orphanet:3241"} xref: Orphanet:3241 {source="OMIM:125230", source="MONDO:equivalentTo"} xref: SCTID:716245003 {source="MONDO:equivalentTo"} xref: UMLS:C1852278 {source="OMIM:125230", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3241"} is_a: MONDO:0015161 {source="Orphanet:3241"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C565118 property_value: exactMatch http://identifiers.org/snomedct/716245003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852278 property_value: exactMatch https://omim.org/entry/125230 property_value: exactMatch Orphanet:3241 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1686/deafness-craniofacial-syndrome xsd:anyURI {source="GARD:0001686"} [Term] id: MONDO:0007432 name: cerebral arteriopathy with subcortical infarcts and leukoencephalopathy subset: ordo_disease {source="Orphanet:136"} subset: prototype_pattern synonym: "CADASIL" EXACT ABBREVIATION [MONDO:Lexical, OMIM:125310] synonym: "Casil" RELATED [OMIM:125310] synonym: "cerebral arteriopathy with subcortical infaracts and leukoencephalopathy" EXACT [OMIMPS:125310] synonym: "cerebral arteriopathy with subcortical infarcts and leukoencephalopathy" EXACT [] synonym: "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy" RELATED [MONDO:Lexical, OMIM:125310] synonym: "dementia, hereditary multi-infarct type" RELATED [OMIM:125310] xref: DOID:13945 {source="MONDO:equivalentTo"} xref: ICD9:323.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:447.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIMPS:125310 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="NCIT:C84606"} ! syndromic disease is_a: MONDO:0015547 {source="MONDO:Redundant", source="Orphanet:136", source="Orphanet:136/inferred"} ! hereditary dementia is_a: MONDO:0020144 {source="Orphanet:136"} ! cerebrovascular dementia property_value: exactMatch DOID:13945 property_value: exactMatch https://omim.org/phenotypicSeries/PS125310 property_value: excluded_subClassOf MONDO:0015368 {source="MONDO:0020262-obsoleted"} property_value: excluded_subClassOf MONDO:0019046 {source="DOID:13945"} [Term] id: MONDO:0007434 name: primary failure of tooth eruption subset: ordo_disease {source="Orphanet:412206"} synonym: "dental noneruption" RELATED [OMIM:125350] synonym: "failure of tooth eruption, primary" RELATED [MONDO:Lexical, OMIM:125350] synonym: "PFE" EXACT ABBREVIATION [MONDO:Lexical, OMIM:125350, Orphanet:412206] synonym: "posterior Openbite malocclusion, familial" RELATED [OMIM:125350] synonym: "primary failure of eruption, nonsyndromic" RELATED [OMIM:125350] synonym: "primary retention of teeth" EXACT [OMIM:125350, Orphanet:412206] synonym: "unerupted second primary molar" RELATED [OMIM:125350] xref: DOID:0111341 {source="MONDO:equivalentTo"} xref: MESH:C565114 {source="MONDO:equivalentTo"} xref: OMIM:125350 {source="Orphanet:412206", source="MONDO:equivalentTo", source="Orphanet:412206/e"} xref: Orphanet:412206 {source="OMIM:125350", source="MONDO:equivalentTo"} xref: UMLS:C1852222 {source="OMIM:125350", source="Orphanet:412206", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0000508 {source="Orphanet:412206/inferred"} ! genetic disorder property_value: exactMatch DOID:0111341 property_value: exactMatch http://identifiers.org/mesh/C565114 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852222 property_value: exactMatch https://omim.org/entry/125350 property_value: exactMatch Orphanet:412206 [Term] id: MONDO:0007435 name: dentatorubral-pallidoluysian atrophy def: "Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." [Orphanet:101] subset: gard_rare {source="GARD:0005643"} subset: ordo_disease {source="Orphanet:101"} synonym: "ataxia, chorea, seizures, and dementia" RELATED [OMIM:125370] synonym: "dentatorubral pallidoluysian atrophy" RELATED [Orphanet:101] synonym: "dentatorubral-pallidoluysian atrophy" EXACT [MONDO:Lexical, OMIM:125370] synonym: "Dentatorubropallidoluysian atrophy" EXACT [Orphanet:101] synonym: "DRPLA" EXACT ABBREVIATION [DOID:0060162, MONDO:Lexical, OMIM:125370, Orphanet:101] synonym: "haw River syndrome" EXACT [DOID:0060162, OMIM:125370] synonym: "myoclonic epilepsy with choreoathetosis" RELATED [OMIM:125370] synonym: "Naito Oyanagi disease" RELATED [GARD:0005643] synonym: "Naito-Oyanagi disease" EXACT [DOID:0060162, OMIM:125370, Orphanet:101] synonym: "NOD" RELATED ABBREVIATION [GARD:0005643] xref: DOID:0060162 {source="MONDO:equivalentTo"} xref: ICD9:333.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D020191 {source="MONDO:relatedTo", source="DOID:0060162"} xref: NCIT:C122653 {source="MONDO:equivalentTo", source="DOID:0060162"} xref: NCIT:C7636 {source="MONDO:relatedTo", source="DOID:0060162"} xref: OMIM:125370 {source="Orphanet:101/e", source="MONDO:equivalentTo", source="DOID:0060162", source="Orphanet:101"} xref: Orphanet:101 {source="MONDO:equivalentTo", source="OMIM:125370"} xref: SCTID:267581004 {source="MONDO:relatedTo", source="DOID:0060162"} xref: SCTID:68116008 {source="MONDO:equivalentTo", source="DOID:0060162"} xref: UMLS:C0751778 {source="MONDO:relatedTo", source="DOID:0060162"} xref: UMLS:C0751781 {source="Orphanet:101/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C122653", source="OMIM:125370", source="DOID:0060162", source="Orphanet:101"} is_a: MONDO:0015548 {source="Orphanet:101"} ! Huntington disease-like syndrome is_a: MONDO:0019794 {source="Orphanet:101"} ! autosomal dominant cerebellar ataxia type IV property_value: exactMatch DOID:0060162 property_value: exactMatch http://identifiers.org/snomedct/68116008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751781 property_value: exactMatch https://omim.org/entry/125370 property_value: exactMatch NCIT:C122653 property_value: exactMatch Orphanet:101 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5643/dentatorubral-pallidoluysian-atrophy xsd:anyURI {source="GARD:0005643"} [Term] id: MONDO:0007436 name: dentin dysplasia type I def: "Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD) characterized by sharp conical short roots or rootless teeth." [Orphanet:99789] subset: gard_rare {source="GARD:0001807"} subset: ordo_clinical_subtype {source="Orphanet:99789"} synonym: "DD-I" EXACT [Orphanet:99789] synonym: "dentin dysplasia type I" EXACT [] synonym: "dentin dysplasia, Shields type 1" RELATED [OMIM:125400] synonym: "dentin dysplasia, type 1" RELATED [GARD:0001807] synonym: "dentin dysplasia, type I" RELATED [MONDO:Lexical, OMIM:125400] synonym: "dentin dysplasia, type I, with extreme microdontia and misshapen teeth" RELATED [OMIM:125400] synonym: "dentin dysplasia, type i, with microdontia and misshapen teeth" EXACT [OMIM:125400, OMIM:genemap2] synonym: "DTDP1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:125400, Orphanet:99789] synonym: "radicular dentin dysplasia" EXACT [OMIM:125400, Orphanet:99789] synonym: "rootless teeth" RELATED [OMIM:125400] xref: ICD9:520.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C531665 {source="MONDO:equivalentTo"} xref: MESH:C538215 {source="Orphanet:99789", source="MONDO:equivalentTo", source="Orphanet:99789/e"} xref: OMIM:125400 {source="MONDO:equivalentTo"} xref: Orphanet:99789 {source="MONDO:equivalentTo", source="OMIM:125400"} xref: SCTID:109493006 {source="MONDO:equivalentTo"} xref: UMLS:C0399379 {source="Orphanet:99789", source="MONDO:equivalentTo", source="OMIM:125400", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:99789/e"} is_a: EFO:0000508 {source="Orphanet:99789/inferred"} ! genetic disorder is_a: MONDO:0015613 {source="DC-OMIM:125400", source="MESH:C538215", source="Orphanet:99789"} ! dentin dysplasia property_value: exactMatch http://identifiers.org/mesh/C531665 property_value: exactMatch http://identifiers.org/mesh/C538215 property_value: exactMatch http://identifiers.org/snomedct/109493006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0399379 property_value: exactMatch https://omim.org/entry/125400 property_value: exactMatch Orphanet:99789 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1807/dentin-dysplasia-type-1 xsd:anyURI {source="GARD:0001807"} [Term] id: MONDO:0007437 name: dentin dysplasia type II def: "Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD) characterized by normal tooth roots but abnormal primary dentition." [Orphanet:99791] subset: ordo_clinical_subtype {source="Orphanet:99791"} synonym: "anomalous dysplasia of dentin" RELATED [OMIM:125420] synonym: "coronal dentin dysplasia" RELATED [OMIM:125420] synonym: "DD-II" EXACT [Orphanet:99791] synonym: "dentin dyspalsia, Shields type 2" RELATED [GARD:0001806] synonym: "dentin dysplasia, coronal" RELATED [GARD:0001806] synonym: "dentin dysplasia, Shields type 2" RELATED [OMIM:125420] synonym: "dentin dysplasia, type 2" RELATED [OMIM:125420] synonym: "dentin dysplasia, type II" RELATED [OMIM:125420] synonym: "DTDP2" EXACT ABBREVIATION [Orphanet:99791] synonym: "Dtdp2" RELATED [OMIM:125420] synonym: "pulp stones" RELATED [OMIM:125420] synonym: "pulpal dysplasia" RELATED [OMIM:125420] xref: ICD9:520.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:125420 {source="MONDO:equivalentTo"} xref: Orphanet:99791 {source="OMIM:125420", source="MONDO:equivalentTo"} xref: SCTID:109494000 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="Orphanet:99791/inferred"} ! genetic disorder is_a: MONDO:0015613 {source="DC-OMIM:125420", source="OMIM:125420", source="Orphanet:99791"} ! dentin dysplasia property_value: exactMatch http://identifiers.org/snomedct/109494000 property_value: exactMatch https://omim.org/entry/125420 property_value: exactMatch Orphanet:99791 [Term] id: MONDO:0007438 name: dentin dysplasia-sclerotic bones syndrome def: "A rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977." [https://orcid.org/0000-0001-5208-3432, Orphanet:99792] subset: ordo_disease {source="Orphanet:99792"} synonym: "dentin dysplasia sclerotic bones" RELATED [GARD:0001808] synonym: "dentin dysplasia with sclerotic bones" RELATED [OMIM:125440] synonym: "sclerotic bones with dentin dysplasia" RELATED [GARD:0001808] xref: MESH:C538213 {source="Orphanet:99792/e", source="MONDO:equivalentTo", source="Orphanet:99792"} xref: OMIM:125440 {source="Orphanet:99792/e", source="MONDO:equivalentTo", source="Orphanet:99792"} xref: Orphanet:99792 {source="OMIM:125440", source="MONDO:equivalentTo"} xref: UMLS:C1852201 {source="OMIM:125440", source="Orphanet:99792/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:99792"} is_a: EFO:0000508 {source="Orphanet:99792/inferred"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C538213 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852201 property_value: exactMatch https://omim.org/entry/125440 property_value: exactMatch Orphanet:99792 [Term] id: MONDO:0007441 name: dentinogenesis imperfecta type 2 def: "Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI) and is characterized by weakness and discoloration of all teeth." [Orphanet:166260] subset: ordo_clinical_subtype {source="Orphanet:166260"} synonym: "Capdepont teeth" EXACT [OMIM:125490, Orphanet:166260] synonym: "dentinogenesis imperfecta 1" RELATED [MONDO:Lexical, OMIM:125490] synonym: "dentinogenesis imperfecta type 1" EXACT [MONDORULE:1, OMIM:125490] synonym: "dentinogenesis imperfecta without osteogenesis imperfecta" RELATED [OMIM:125490] synonym: "dentinogenesis imperfecta, Shields type 2" EXACT [OMIM:125490, Orphanet:166260] synonym: "dentinogenesis imperfecta, Shields type II" EXACT [OMIM:125490, OMIM:genemap2] synonym: "DGI-2" EXACT [Orphanet:166260] synonym: "DGI-II" RELATED [OMIM:125490] synonym: "DGI1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:125490] synonym: "DI-2" EXACT [Orphanet:166260] synonym: "opalescent dentin" RELATED [OMIM:125490] synonym: "opalescent teeth without osteogenesis imperfecta" RELATED [OMIM:125490] xref: OMIM:125490 {source="Orphanet:166260/e", source="MONDO:equivalentTo", source="Orphanet:166260"} xref: Orphanet:166260 {source="MONDO:equivalentTo", source="OMIM:125490"} is_a: EFO:0000508 {source="Orphanet:166260/inferred"} ! genetic disorder is_a: MONDO:0018849 {source="DC-OMIM:125490", source="Orphanet:166260"} ! dentinogenesis imperfecta property_value: exactMatch https://omim.org/entry/125490 property_value: exactMatch Orphanet:166260 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007442 name: dentinogenesis imperfecta type 3 def: "Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy)." [Orphanet:166265] subset: gard_rare {source="GARD:0010144"} subset: ordo_clinical_subtype {source="Orphanet:166265"} synonym: "brandywine type dentinogenesis imperfecta" RELATED [OMIM:125500] synonym: "dentinogenesis imperfecta Shields type 3" RELATED [GARD:0010144] synonym: "dentinogenesis imperfecta type III" RELATED [GARD:0010144] synonym: "dentinogenesis imperfecta, Shields type 3" EXACT [Orphanet:166265] synonym: "dentinogenesis imperfecta, Shields type III" RELATED [OMIM:125500] synonym: "DGI-III" RELATED [OMIM:125500] xref: ICD9:520.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538216 {source="MONDO:equivalentTo"} xref: OMIM:125500 {source="Orphanet:166265", source="MONDO:equivalentTo", source="Orphanet:166265/e"} xref: Orphanet:166265 {source="MONDO:equivalentTo", source="OMIM:125500"} xref: SCTID:234970006 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="Orphanet:166265/inferred"} ! genetic disorder is_a: MONDO:0018849 {source="DC-OMIM:125500", source="MESH:C538216", source="Orphanet:166265"} ! dentinogenesis imperfecta property_value: exactMatch http://identifiers.org/mesh/C538216 property_value: exactMatch http://identifiers.org/snomedct/234970006 property_value: exactMatch https://omim.org/entry/125500 property_value: exactMatch Orphanet:166265 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10144/dentinogenesis-imperfecta-type-3 xsd:anyURI {source="GARD:0010144"} [Term] id: MONDO:0007443 name: congenital unilateral hypoplasia of depressor anguli oris def: "Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood)." [Orphanet:1166] comment: Editor note: TODO check relationship to 22q11.2 deletion syndrome subset: ordo_morphological_anomaly {source="Orphanet:1166"} synonym: "asymmetric crying facies" RELATED [OMIM:125520] synonym: "Cayler cardiofacial syndrome" RELATED [OMIM:125520] synonym: "depressor anguli oris muscle, hypoplasia of" RELATED [OMIM:125520] synonym: "facial paresis, partial, unilateral" RELATED [OMIM:125520] synonym: "isolated asymmetric crying facies" EXACT [Orphanet:1166] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:125520 {source="Orphanet:1166", source="MONDO:equivalentTo", source="Orphanet:1166/e"} xref: Orphanet:1166 {source="MONDO:equivalentTo", source="OMIM:125520"} xref: SCTID:51409009 {source="MONDO:equivalentTo"} is_a: MONDO:0018923 ! 22q11.2 deletion syndrome property_value: exactMatch http://identifiers.org/snomedct/51409009 property_value: exactMatch https://omim.org/entry/125520 property_value: exactMatch Orphanet:1166 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0007445 name: dermatopathia pigmentosa reticularis subset: gard_rare {source="GARD:0008550"} subset: ordo_disease {source="Orphanet:86920"} synonym: "dermatopathia pigmentosa reticularis" EXACT [MONDO:Lexical, OMIM:125595] synonym: "DPR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:125595] xref: DOID:0111342 {source="MONDO:equivalentTo"} xref: MESH:C535374 {source="Orphanet:86920", source="MONDO:equivalentTo", source="Orphanet:86920/e"} xref: OMIM:125595 {source="Orphanet:86920", source="MONDO:equivalentTo", source="Orphanet:86920/e"} xref: Orphanet:86920 {source="OMIM:125595", source="MONDO:equivalentTo"} xref: SCTID:239088003 {source="MONDO:equivalentTo"} is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma is_a: MONDO:0019287 {source="Orphanet:86920"} ! ectodermal dysplasia syndrome is_a: MONDO:0019289 {source="Orphanet:86920"} ! hyperpigmentation of the skin property_value: exactMatch DOID:0111342 property_value: exactMatch http://identifiers.org/mesh/C535374 property_value: exactMatch http://identifiers.org/snomedct/239088003 property_value: exactMatch https://omim.org/entry/125595 property_value: exactMatch Orphanet:86920 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8550/dermatopathia-pigmentosa-reticularis xsd:anyURI {source="GARD:0008550"} [Term] id: MONDO:0007449 name: dermo-odonto dysplasia def: "Dermo-odonto dysplasia belongs to the group of tricho-odonto-onychial dysplasias. It is characterized by signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. Fourteen cases have been described so far. Autosomal dominant transmission is likely." [Orphanet:1660] subset: ordo_malformation_syndrome {source="Orphanet:1660"} synonym: "dermo odontodysplasia" RELATED [] synonym: "dermo-odonto dysplasia" EXACT [] synonym: "dermo-odonto-dysplasia" RELATED [GARD:0001816] synonym: "dermoodonto dysplasia" RELATED [] synonym: "DERMOODONTODYSPLASIA" RELATED ABBREVIATION [OMIM:125640] synonym: "ectodermal dysplasia, hair-nail-Tooth type" RELATED [OMIM:125640] xref: MESH:C565103 {source="MONDO:equivalentTo"} xref: OMIM:125640 {source="Orphanet:1660", source="MONDO:equivalentTo", source="Orphanet:1660/e"} xref: Orphanet:1660 {source="OMIM:125640", source="MONDO:equivalentTo"} xref: SCTID:721091003 {source="MONDO:equivalentTo"} xref: UMLS:C1852144 {source="Orphanet:1660", source="OMIM:125640", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4303591 {source="MONDO:equivalentTo"} is_a: MONDO:0019287 {source="Orphanet:1660"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C565103 property_value: exactMatch http://identifiers.org/snomedct/721091003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852144 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303591 property_value: exactMatch https://omim.org/entry/125640 property_value: exactMatch Orphanet:1660 [Term] id: MONDO:0007450 name: neurohypophyseal diabetes insipidus def: "Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis." [Orphanet:30925] subset: ordo_clinical_subtype {source="Orphanet:30925"} synonym: "ADH deficiency" EXACT [NCIT:C84933] synonym: "antidiuretic hormone deficiency" EXACT [NCIT:C84933] synonym: "Arginine vasopressin deficiency" EXACT [NCIT:C84933] synonym: "AVP deficiency" EXACT [NCIT:C84933] synonym: "diabetes insipidus of pituitary gland" EXACT [MONDO:design_pattern] synonym: "diabetes insipidus, cranial type" RELATED [OMIM:125700] synonym: "diabetes insipidus, neurohypophyseal" RELATED [OMIM:125700] synonym: "diabetes insipidus, primary central" RELATED [OMIM:125700] synonym: "hereditary CDI" EXACT [Orphanet:30925] synonym: "hereditary central diabetes insipidus" RELATED [Orphanet:30925] synonym: "hereditary neurogenic diabetes insipidus" EXACT [Orphanet:30925] synonym: "neurogenic diabetes insipidus" RELATED [NCIT:C84933] synonym: "pituitary diabetes insipidus" EXACT [DOID:12388] synonym: "pituitary gland diabetes insipidus" EXACT [MONDO:patterns/location] synonym: "vasopressin defective diabetes insipidus" EXACT [DOID:12388] synonym: "vasopressin deficiency" EXACT [DOID:12388] xref: DOID:12388 {source="MONDO:equivalentTo"} xref: NCIT:C84933 {source="MONDO:equivalentTo", source="DOID:12388"} xref: OMIM:125700 {source="Orphanet:30925/e", source="MONDO:equivalentTo", source="Orphanet:30925", source="DOID:12388"} xref: Orphanet:30925 {source="MONDO:equivalentTo", source="OMIM:125700"} xref: SCTID:45369008 {source="MONDO:equivalentTo", source="DOID:12388"} is_a: EFO:0009607 {source="DOID:12388", source="MONDO:Redundant"} ! pituitary gland disease is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0004782 {source="DC-OMIM:125700", source="DOID:12388", source="MONDO:Redundant", source="NCIT:C84933"} ! diabetes insipidus is_a: MONDO:0015127 ! pituitary deficiency is_a: MONDO:0100070 ! neuroendocrine disorder is_a: MONDO:0100191 ! inherited kidney disorder property_value: exactMatch DOID:12388 property_value: exactMatch http://identifiers.org/snomedct/45369008 property_value: exactMatch https://omim.org/entry/125700 property_value: exactMatch NCIT:C84933 property_value: exactMatch Orphanet:30925 [Term] id: MONDO:0007451 name: diabetes insipidus, nephrogenic, autosomal synonym: "diabetes insipidus, nephrogenic, 2" EXACT [OMIM:125800, OMIM:genemap2] synonym: "diabetes insipidus, nephrogenic, autosomal" EXACT [OMIM:125800] synonym: "diabetes insipidus, nephrogenic, type 2" RELATED [OMIM:125800] xref: DOID:0081061 {source="MONDO:equivalentTo"} xref: OMIM:125800 {source="MONDO:equivalentTo"} xref: UMLS:C1563706 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:125800"} is_a: MONDO:0016383 {source="Orphanet:223/btnt"} ! nephrogenic diabetes insipidus property_value: exactMatch DOID:0081061 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1563706 property_value: exactMatch https://omim.org/entry/125800 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007461 name: short stature-valvular heart disease-characteristic facies syndrome def: "Short stature-valvular heart disease-characteristic facies syndrome is characterized by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait." [Orphanet:2868] subset: ordo_malformation_syndrome {source="Orphanet:2868"} synonym: "disproportionate short stature with ptosis and valvular heart lesions" RELATED [OMIM:126190] xref: MESH:C565094 {source="MONDO:equivalentTo"} xref: OMIM:126190 {source="Orphanet:2868/e", source="MONDO:equivalentTo", source="Orphanet:2868"} xref: Orphanet:2868 {source="MONDO:equivalentTo", source="OMIM:126190"} xref: UMLS:C1852073 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:126190"} is_a: MONDO:0015161 {source="Orphanet:2868"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C565094 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852073 property_value: exactMatch https://omim.org/entry/126190 property_value: exactMatch Orphanet:2868 [Term] id: MONDO:0007462 name: multiple sclerosis, susceptibility to subset: predisposition subset: prototype_pattern synonym: "disseminated sclerosis" RELATED [OMIM:126200] synonym: "MS" RELATED ABBREVIATION [OMIM:126200] xref: OMIMPS:126200 {source="MONDO:cjm", source="MONDO:equivalentTo"} is_a: MONDO:0020573 ! inherited disease susceptibility intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: predisposes_towards MONDO:0005301 ! multiple sclerosis relationship: predisposes_towards MONDO:0005301 ! multiple sclerosis property_value: exactMatch https://omim.org/phenotypicSeries/PS126200 [Term] id: MONDO:0007470 name: calvarial doughnut lesions-bone fragility syndrome def: "This syndrome is characterized by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria." [Orphanet:85192] subset: ordo_malformation_syndrome {source="Orphanet:85192"} synonym: "calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia" EXACT [OMIM:126550, OMIM:genemap2] synonym: "doughnut lesions of skull, familial" RELATED [OMIM:126550] synonym: "familial doughnut lesions of skull" EXACT [Orphanet:85192] xref: DOID:0080721 {source="MONDO:equivalentTo"} xref: MESH:C565089 {source="MONDO:equivalentTo"} xref: OMIM:126550 {source="MONDO:equivalentTo", source="Orphanet:85192", source="Orphanet:85192/e"} xref: Orphanet:85192 {source="OMIM:126550", source="MONDO:equivalentTo"} xref: SCTID:720598005 {source="MONDO:equivalentTo"} xref: UMLS:C1852022 {source="OMIM:126550", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:85192"} is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. property_value: exactMatch DOID:0080721 property_value: exactMatch http://identifiers.org/mesh/C565089 property_value: exactMatch http://identifiers.org/snomedct/720598005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852022 property_value: exactMatch https://omim.org/entry/126550 property_value: exactMatch Orphanet:85192 property_value: excluded_subClassOf MONDO:0019704 {source="Orphanet:85192"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0007471 name: Doyne honeycomb retinal dystrophy def: "Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized bysmall, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium(the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early to mid adulthood, but the age of onset varies.The degree of vision loss also varies. DHRD is usually caused by mutations in the EFEMP1 gene and is inherited in an autosomal dominant manner." [https://rarediseases.info.nih.gov/diseases/1912/doyne-honeycomb-retinal-dystrophy] subset: gard_rare {source="GARD:0001912"} subset: ordo_disease {source="Orphanet:75376"} synonym: "DHD" RELATED ABBREVIATION [GARD:0001912] synonym: "DHRD" EXACT ABBREVIATION [DOID:0060745, MONDO:Lexical, OMIM:126600, Orphanet:75376] synonym: "dominant drusen" EXACT [Orphanet:75376] synonym: "dominant radial drusen" EXACT [Orphanet:75376] synonym: "Doyne honeycomb degeneration of retina" EXACT [DOID:0060745, OMIM:126600] synonym: "Doyne honeycomb retinal dystrophy" EXACT [MONDO:Lexical, OMIM:126600, Orphanet:75376] synonym: "drusen, radial, autosomal dominant" RELATED [OMIM:126600] synonym: "familial drusen" RELATED [Orphanet:75376] synonym: "Malattia leventinese" EXACT [OMIM:126600, Orphanet:75376] xref: DOID:0060745 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.5 {source="Orphanet:75376", source="MONDO:relatedTo", source="Orphanet:75376/attributed", source="Orphanet:75376/ntbt", source="DOID:0060745"} xref: OMIM:126600 {source="Orphanet:75376", source="MONDO:equivalentTo", source="Orphanet:75376/e", source="DOID:0060745"} xref: Orphanet:75376 {source="MONDO:equivalentTo", source="DOID:0060745", source="OMIM:126600"} xref: SCTID:193411004 {source="MONDO:equivalentTo"} xref: UMLS:C1832174 {source="Orphanet:75376", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:126600"} xref: UMLS:C1852020 {source="Orphanet:75376", source="MONDO:equivalentTo", source="OMIM:126600"} xref: UMLS:CN205694 {source="MONDO:equivalentTo"} is_a: EFO:1001155 {source="DOID:0060745"} ! retinal drusen is_a: MONDO:0016420 {source="Orphanet:75376"} ! familial flecked retinopathy property_value: exactMatch DOID:0060745 property_value: exactMatch http://identifiers.org/snomedct/193411004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832174 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852020 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205694 property_value: exactMatch https://omim.org/entry/126600 property_value: exactMatch Orphanet:75376 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1912/doyne-honeycomb-retinal-dystrophy xsd:anyURI {source="GARD:0001912"} [Term] id: MONDO:0007473 name: Duane retraction syndrome def: "Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia." [Orphanet:233] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:233"} subset: prototype_pattern synonym: "DRS" EXACT ABBREVIATION [Orphanet:233] synonym: "Duane anomaly" RELATED [GARD:0006288, OMIM:126800] synonym: "Duane retraction syndrome" EXACT [GARD:0006288] synonym: "Duane syndrome" EXACT [Orphanet:233] synonym: "Duane's syndrome" EXACT [DOID:12557, ICD9CM:378.71] synonym: "DURS" EXACT ABBREVIATION [Orphanet:233] synonym: "retraction syndrome" RELATED [OMIM:126800] synonym: "Stilling-Turk-Duane syndrome" EXACT [DOID:12557, GARD:0006288, Orphanet:233] xref: DOID:12557 {source="MONDO:equivalentTo"} xref: ICD9:378.71 {source="DOID:12557", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10013799 {source="Orphanet:233/e", source="Orphanet:233"} xref: MESH:D004370 {source="DOID:12557", source="Orphanet:233/e", source="MONDO:equivalentTo", source="Orphanet:233"} xref: NCIT:C84678 {source="DOID:12557", source="MONDO:equivalentTo"} xref: OMIMPS:126800 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:233 {source="MONDO:equivalentTo", source="GARD:0006288"} xref: SCTID:60318001 {source="DOID:12557", source="MONDO:equivalentTo"} xref: UMLS:C0013261 {source="DOID:12557", source="NCIT:C84678", source="Orphanet:233/e", source="MONDO:equivalentTo", source="Orphanet:233"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:cjm", source="NCIT:C84678"} ! syndromic disease is_a: MONDO:0015083 {source="Orphanet:233"} ! nuclear oculomotor paralysis is_a: MONDO:0020132 {source="Orphanet:233"} ! cranial nerve and nuclear aplasia is_a: MONDO:0957003 ! hereditary neuro-ophthalmological disease property_value: closeMatch http://identifiers.org/meddra/10013799 property_value: exactMatch DOID:12557 property_value: exactMatch http://identifiers.org/mesh/D004370 property_value: exactMatch http://identifiers.org/snomedct/60318001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013261 property_value: exactMatch https://omim.org/phenotypicSeries/PS126800 property_value: exactMatch NCIT:C84678 property_value: exactMatch Orphanet:233 property_value: excluded_subClassOf MONDO:0015368 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6288/duane-syndrome xsd:anyURI {source="GARD:0006288"} [Term] id: MONDO:0007476 name: familial Dupuytren contracture def: "Familial Dupuyren contracture is a rare, genetic, epidermal disease characterized by a, usually unilateral, progressive thickening and shortening of the palmar fascia, leading to permanent flexion contracture of the digits in several members of a family. It most commonly affects the fourth digit, followed by the fifth and then the third (first and second digits are usually spared)." [Orphanet:79142] subset: ordo_disease {source="Orphanet:79142"} synonym: "Dupuytren contracture" RELATED [OMIM:126900] synonym: "Dupuytren contracture 1" RELATED [OMIM:126900] synonym: "plantar fibromas" RELATED [OMIM:126900] synonym: "plantar fibromatosis, familial" RELATED [OMIM:126900] xref: OMIM:126900 {source="MONDO:equivalentTo", source="Orphanet:79142", source="Orphanet:79142/e"} xref: Orphanet:79142 {source="MONDO:equivalentObsolete", source="OMIM:126900"} xref: SCTID:274142002 {source="MONDO:equivalentTo"} is_a: EFO:0004198 ! skin neoplasm is_a: EFO:1000556 {source="Orphanet:79142"} ! Superficial Fibromatosis property_value: exactMatch http://identifiers.org/snomedct/274142002 property_value: exactMatch https://omim.org/entry/126900 [Term] id: MONDO:0007477 name: 3-M syndrome def: "3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence." [Orphanet:2616] subset: ordo_malformation_syndrome {source="Orphanet:2616"} subset: prototype_pattern synonym: "3-M syndrome" EXACT [MESH:C535314, Orphanet:2616] synonym: "3-MSBN" RELATED [GARD:0005667] synonym: "3M syndrome" RELATED [MESH:C535314] synonym: "3M1" NARROW ABBREVIATION [MESH:C535314] synonym: "Dolichospondylic dysplasia" EXACT [Orphanet:2616] synonym: "dolichospondylic dysplasia" EXACT [DOID:0060241] synonym: "dwarfism with tall vertebrae" RELATED [OMIM:126950] synonym: "gloomy face syndrome" EXACT [DOID:0060241, Orphanet:2616] synonym: "gloomy face syndrome Yakut short stature syndrome, included" RELATED [MESH:C535314] synonym: "Le Merrer syndrome" EXACT [DOID:0060241, Orphanet:2616] synonym: "Miller-McKusick-Malvaux syndrome" EXACT [DOID:0060241] synonym: "three M syndrome" EXACT [DOID:0060241, MESH:C535314] synonym: "three M syndrome 1" NARROW [MESH:C535314] synonym: "three-M slender-boned nanism" RELATED [MESH:C535314] synonym: "Yakut short stature syndrome" EXACT [DOID:0060241, Orphanet:2616] xref: DOID:0060241 {source="MONDO:equivalentTo"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535314 {source="DOID:0060241", source="MONDO:equivalentTo"} xref: OMIMPS:273750 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:2616 {source="DOID:0060241", source="MONDO:equivalentTo"} xref: SCTID:702342007 {source="DOID:0060241", source="MONDO:equivalentTo"} is_a: EFO:1000017 {source="DOID:0060241", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015161 {source="Orphanet:2616"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0019699 {source="Orphanet:2616"} ! slender bone dysplasia property_value: exactMatch DOID:0060241 property_value: exactMatch http://identifiers.org/mesh/C535314 property_value: exactMatch http://identifiers.org/snomedct/702342007 property_value: exactMatch https://omim.org/phenotypicSeries/PS273750 property_value: exactMatch Orphanet:2616 [Term] id: MONDO:0007478 name: autosomal dominant Kenny-Caffey syndrome def: "An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones." [NCIT:C130993] subset: gard_rare subset: ordo_etiological_subtype {source="Orphanet:93325"} synonym: "dwarfism, cortical thickening of tubular bones and transient hypocalcemia" RELATED [GARD:0000083] synonym: "dwarfism, cortical thickening of tubular bones, and transient hypocalcemia" RELATED [OMIM:127000] synonym: "KCS2" RELATED ABBREVIATION [GARD:0000083, MONDO:Lexical, OMIM:127000] synonym: "Kenny syndrome" BROAD [OMIM:127000] synonym: "Kenny-Caffey syndrome type 2" EXACT [NCIT:C130993] synonym: "Kenny-Caffey syndrome, autosomal dominant" EXACT [GARD:0000083, MONDO:patterns/autosomal_dominant] synonym: "Kenny-Caffey syndrome, type 2" RELATED [MONDO:Lexical, OMIM:127000] xref: DOID:0080723 {source="MONDO:equivalentTo"} xref: NCIT:C130993 {source="MONDO:equivalentTo"} xref: OMIM:127000 {source="MONDO:equivalentTo", source="Orphanet:93325", source="GARD:0000083", source="Orphanet:93325/e"} xref: Orphanet:93325 {source="OMIM:127000", source="MONDO:equivalentTo", source="GARD:0000083"} xref: UMLS:CN031291 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0016516 {source="DC-OMIM:127000", source="MONDO:Redundant", source="OMIM:127000", source="Orphanet:93325"} ! Kenny-Caffey syndrome is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder property_value: exactMatch DOID:0080723 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN031291 property_value: exactMatch https://omim.org/entry/127000 property_value: exactMatch NCIT:C130993 property_value: exactMatch Orphanet:93325 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/83/kenny-caffey-syndrome-type-2 xsd:anyURI {source="GARD:0000083"} [Term] id: MONDO:0007481 name: Leri-Weill dyschondrosteosis def: "Leri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity." [Orphanet:240] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:240"} synonym: "DCo" RELATED [GARD:0003224] synonym: "dyschondrosteosis" RELATED [GARD:0003224, OMIM:127300] synonym: "Leri Weill dyschondrosteosis" EXACT [GARD:0003224] synonym: "Leri-Weill dyschondrosteosis" EXACT [GARD:0003224, MONDO:Lexical, OMIM:127300] synonym: "Leri-Weill dyschondrosteosis, Pseudoautosomal dominant" EXACT [OMIM:127300, OMIM:genemap2] synonym: "Leri-Weill dyschondrostosis" EXACT [DECIPHER:58] synonym: "Leri-Weill syndrome" EXACT [NCIT:C126560, Orphanet:240] synonym: "LWD" EXACT ABBREVIATION [DECIPHER:58, GARD:0003224, MONDO:Lexical, OMIM:127300] synonym: "Léri-Weill dyschondrosteosis" EXACT [GARD:0003224] synonym: "Léri-Weill syndrome" EXACT [Orphanet:240] synonym: "Madelung deformity" RELATED [OMIM:127300] xref: DECIPHER:58 {source="MONDO:equivalentTo"} xref: DOID:0060847 {source="MONDO:equivalentTo"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C126560 {source="MONDO:equivalentTo"} xref: OMIM:127300 {source="Orphanet:240/e", source="GARD:0003224", source="MONDO:equivalentTo", source="Orphanet:240", source="DOID:0060847"} xref: Orphanet:240 {source="GARD:0003224", source="OMIM:127300", source="MONDO:equivalentTo", source="DOID:0060847"} xref: SCTID:17818006 {source="MONDO:equivalentTo"} xref: UMLS:C0265309 {source="Orphanet:240/e", source="NCIT:C126560", source="OMIM:127300", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:240", source="DOID:0060847"} is_a: EFO:0005571 {source="DOID:0060847"} ! osteochondrodysplasia is_a: MONDO:0019697 {source="Orphanet:240", source="PMID:31633310"} ! mesomelic and rhizo-mesomelic dysplasia property_value: exactMatch DOID:0060847 property_value: exactMatch http://identifiers.org/snomedct/17818006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265309 property_value: exactMatch https://omim.org/entry/127300 property_value: exactMatch NCIT:C126560 property_value: exactMatch Orphanet:240 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3224/leri-weill-dyschondrosteosis xsd:anyURI {source="GARD:0003224"} [Term] id: MONDO:0007482 name: dyschondrosteosis-nephritis syndrome def: "Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity, with hereditary nephritis." [Orphanet:1765] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1765"} synonym: "dyschondrosteosis and nephritis" RELATED [OMIM:127350] synonym: "dyschondrosteosis nephritis" RELATED [GARD:0001994] synonym: "mesomelic shortening and hereditary nephritis" RELATED [GARD:0001994] xref: MESH:C565080 {source="MONDO:equivalentTo"} xref: OMIM:127350 {source="GARD:0001994", source="MONDO:equivalentTo", source="Orphanet:1765", source="Orphanet:1765/e"} xref: Orphanet:1765 {source="GARD:0001994", source="MONDO:equivalentTo", source="OMIM:127350"} xref: UMLS:C1851986 {source="GARD:0001994", source="MONDO:equivalentTo", source="Orphanet:1765", source="MONDO:ncbi_mim2gene_medline", source="OMIM:127350"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDO:indirect"} ! syndromic disease is_a: MONDO:0019697 {source="Orphanet:1765"} ! mesomelic and rhizo-mesomelic dysplasia property_value: exactMatch http://identifiers.org/mesh/C565080 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851986 property_value: exactMatch https://omim.org/entry/127350 property_value: exactMatch Orphanet:1765 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1994/dyschondrosteosis-nephritis xsd:anyURI {source="GARD:0001994"} [Term] id: MONDO:0007483 name: dyschromatosis symmetrica hereditaria def: "Acropigmentation of Dohi is a genodermatosis characterized by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs." [Orphanet:41] subset: ordo_disease {source="Orphanet:41"} synonym: "acropigmentation of Dohi" EXACT [Orphanet:41] synonym: "DSH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:127400] synonym: "DSH1" EXACT ABBREVIATION [NCIT:C118435] synonym: "dyschromatosis symmetrica hereditaria" EXACT [MONDO:Lexical, OMIM:127400] synonym: "dyschromatosis symmetrica hereditaria 1" RELATED [OMIM:127400] synonym: "familial reticulate acropigmentation of Dohi" RELATED [GARD:0000334] synonym: "RAD" EXACT ABBREVIATION [NCIT:C118435] synonym: "reticulate acropigmentation of Dohi" EXACT [DOID:0060257, OMIM:127400] synonym: "symmetric dyschromatosis of the extremities" RELATED [OMIM:127400] xref: DOID:0060257 {source="MONDO:equivalentTo"} xref: EFO:0008878 {source="MONDO:equivalentTo"} xref: MESH:C535729 {source="DOID:0060257", source="Orphanet:41/e", source="MONDO:equivalentTo", source="Orphanet:41"} xref: NCIT:C118435 {source="DOID:0060257", source="MONDO:equivalentTo"} xref: OMIM:127400 {source="DOID:0060257", source="Orphanet:41/e", source="MONDO:equivalentTo", source="Orphanet:41"} xref: Orphanet:41 {source="DOID:0060257", source="OMIM:127400", source="MONDO:equivalentTo"} xref: SCTID:239085000 {source="DOID:0060257", source="MONDO:equivalentTo"} xref: UMLS:C0406775 {source="DOID:0060257", source="OMIM:127400", source="Orphanet:41/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C118435", source="Orphanet:41"} is_a: MONDO:0000118 {source="DC-OMIM:127400", source="OMIM:127400"} ! reticulate pigment disorder is_a: MONDO:0019289 {source="Orphanet:41"} ! hyperpigmentation of the skin property_value: exactMatch DOID:0060257 property_value: exactMatch http://identifiers.org/mesh/C535729 property_value: exactMatch http://identifiers.org/snomedct/239085000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406775 property_value: exactMatch https://omim.org/entry/127400 property_value: exactMatch NCIT:C118435 property_value: exactMatch Orphanet:41 [Term] id: MONDO:0007486 name: hereditary benign intraepithelial dyskeratosis def: "A rare genetic disorder with an autosomal dominant pattern of inheritance with variable penetrance. It was initially described among Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina. It is caused by a duplication of chromosomal DNA at 4q35. Clinical signs present in early childhood and include asymptomatic plaques of the epibulbar conjunctivae and oral mucosa. Clinical progression of the plaques to malignancy has not been reported." [NCIT:C3940] subset: ordo_disease {source="Orphanet:352657"} synonym: "Dkbi" RELATED [OMIM:127600] synonym: "dyskeratosis, hereditary benign intraepithelial" RELATED [MONDO:Lexical, OMIM:127600] synonym: "HBID" EXACT ABBREVIATION [MONDO:Lexical, OMIM:127600, Orphanet:352657] synonym: "hereditary benign corneal intraepithelial dyskeratosis" EXACT [Orphanet:352657] synonym: "Witkop-Von Sallmann disease" EXACT [NCIT:C3940] xref: MESH:C562551 {source="MONDO:equivalentTo"} xref: NCIT:C3940 {source="MONDO:equivalentTo"} xref: OMIM:127600 {source="Orphanet:352657/e", source="MONDO:equivalentTo", source="Orphanet:352657"} xref: Orphanet:352657 {source="MONDO:equivalentTo", source="OMIM:127600"} xref: SCTID:400014002 {source="MONDO:equivalentTo"} xref: UMLS:C0265966 {source="MONDO:equivalentTo", source="OMIM:127600", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C3940", source="Orphanet:352657"} is_a: MONDO:0020212 {source="Orphanet:352657"} ! superficial corneal dystrophy is_a: MONDO:0020215 ! syndromic corneal dystrophy property_value: exactMatch http://identifiers.org/mesh/C562551 property_value: exactMatch http://identifiers.org/snomedct/400014002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265966 property_value: exactMatch https://omim.org/entry/127600 property_value: exactMatch NCIT:C3940 property_value: exactMatch Orphanet:352657 [Term] id: MONDO:0007489 name: dysplasia epiphysealis hemimelica def: "Dysplasia epiphysealis hemimelica (DEH), or Trevor's disease, is a rare condition that most commonly affects the epiphysis (the end) of long bones in children. Early diagnosis and treatment are necessary to prevent joint dysfunction and deformity and may be surgical or non-surgical depending on the location and the symptoms. Due to the progressive nature of this disorder and the chance of worsening deformity, patients should be followed until skeletal maturity. The cause of dysplasia epiphysealis hemimelica is not known." [https://rarediseases.info.nih.gov/diseases/2019/dysplasia-epiphysealis-hemimelica] subset: gard_rare {source="GARD:0002019"} subset: ordo_malformation_syndrome {source="Orphanet:1822"} synonym: "dysplasia epiphysealis hemimelica" EXACT [OMIM:127800] synonym: "Trevor disease" EXACT [OMIM:127800, Orphanet:1822] xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537997 {source="MONDO:equivalentTo", source="Orphanet:1822", source="Orphanet:1822/e"} xref: OMIM:127800 {source="MONDO:equivalentTo", source="Orphanet:1822", source="Orphanet:1822/e"} xref: Orphanet:1822 {source="MONDO:equivalentTo", source="OMIM:127800"} xref: SCTID:205480005 {source="MONDO:equivalentTo"} xref: UMLS:C0432282 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:127800", source="Orphanet:1822", source="Orphanet:1822/e"} is_a: MONDO:0800089 {source="PMID:31633310"} ! primary bone dysplasia with disorganized development of skeletal components property_value: exactMatch http://identifiers.org/mesh/C537997 property_value: exactMatch http://identifiers.org/snomedct/205480005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432282 property_value: exactMatch https://omim.org/entry/127800 property_value: exactMatch Orphanet:1822 property_value: excluded_subClassOf MONDO:0019708 {source="Orphanet:1822"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2019/dysplasia-epiphysealis-hemimelica xsd:anyURI {source="GARD:0002019"} [Term] id: MONDO:0007490 name: carpotarsal osteochondromatosis def: "Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs." [Orphanet:2767] subset: gard_rare {source="GARD:0001128"} subset: ordo_malformation_syndrome {source="Orphanet:2767"} synonym: "dominant carpotarsal osteochondromatosis" RELATED [GARD:0001128] synonym: "dysplasia epiphysealis hemimelica with CHONDROMAS and osteochondromas" RELATED [OMIM:127820] synonym: "Maroteaux Le Merrer Bensahel syndrome" RELATED [GARD:0001128] synonym: "Maroteaux-Le Merrer-Bensahel syndrome" EXACT [Orphanet:2767] synonym: "osteochondromatosis, dominant carpotarsal" RELATED [OMIM:127820] xref: MESH:C565076 {source="MONDO:equivalentTo"} xref: OMIM:127820 {source="MONDO:equivalentTo", source="Orphanet:2767", source="Orphanet:2767/e"} xref: Orphanet:2767 {source="MONDO:equivalentTo", source="OMIM:127820"} xref: SCTID:389272007 {source="MONDO:equivalentTo"} xref: UMLS:C1300233 {source="MONDO:equivalentTo", source="Orphanet:2767", source="Orphanet:2767/e"} is_a: MONDO:0018230 {source="Orphanet:2767"} ! skeletal dysplasia property_value: exactMatch http://identifiers.org/mesh/C565076 property_value: exactMatch http://identifiers.org/snomedct/389272007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1300233 property_value: exactMatch https://omim.org/entry/127820 property_value: exactMatch Orphanet:2767 property_value: excluded_subClassOf MONDO:0019708 {source="Orphanet:2767"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1128/carpotarsal-osteochondromatosis xsd:anyURI {source="GARD:0001128"} [Term] id: MONDO:0007492 name: early-onset generalized limb-onset dystonia alt_id: MONDO:0023033 def: "A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body." [Orphanet:256] subset: gard_rare subset: ordo_disease {source="Orphanet:256"} synonym: "dystonia 1" RELATED [GARD:0002027] synonym: "dystonia 1, torsion, Autosomal dominant" RELATED [MESH:C538005] synonym: "dystonia 1, torsion, autosomal dominant" RELATED [GARD:0002027, MONDO:Lexical, OMIM:128100] synonym: "dystonia musculorum deformans" EXACT [DOID:0060730, Orphanet:256] synonym: "dystonia musculorum deformans 1" RELATED [GARD:0002027, MESH:C538005, OMIM:128100] synonym: "dystonia-1, torsion" EXACT [OMIM:128100, OMIM:genemap2] synonym: "DYT-TOR1A" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/, MONDO:cjm] synonym: "DYT-TOR1A dystonia" RELATED [GARD:0002027] synonym: "DYT1" EXACT ABBREVIATION [Orphanet:256] synonym: "Dyt1" RELATED [MESH:C538005] synonym: "early onset primary dystonia" EXACT [NCIT:C116718] synonym: "early onset torsion dystonia" EXACT [GARD:0002027, MESH:C538005, NCIT:C116718] synonym: "early-onset generalised torsion dystonia" EXACT OMO:0003005 [] synonym: "early-onset generalized limb-onset dystonia" EXACT [Orphanet:256] synonym: "early-onset generalized torsion dystonia" EXACT [MESH:C538005, Orphanet:256] synonym: "Early-onset Primary dystonia" RELATED [MESH:C538005] synonym: "early-onset primary dystonia" EXACT [Orphanet:256] synonym: "Early-onset torsion dystonia" RELATED [MESH:C538005] synonym: "early-onset torsion dystonia" EXACT [OMIM:128100, Orphanet:256] synonym: "EOTD" EXACT ABBREVIATION [GARD:0002027, MESH:C538005, Orphanet:256] synonym: "idiopathic dystonia" EXACT [Orphanet:256] synonym: "idiopathic dystonia DYT1" RELATED [GARD:0002027] synonym: "idiopathic torsion dystonia" RELATED [Orphanet:256] synonym: "Oppenheim dystonia" EXACT [MESH:C538005, Orphanet:256] synonym: "Oppenheim's dystonia" EXACT [GARD:0002027, MESH:C538005, NCIT:C116718] synonym: "Primary torsion dystonia" RELATED [MESH:C538005] synonym: "torsion dystonia 1" RELATED [DOID:0060730] synonym: "torsion dystonia 1, autosomal dominant" RELATED [MESH:C538005] synonym: "torsion dystonia type 1" EXACT [DOID:0060730, MONDORULE:1] xref: DOID:0060730 {source="MONDO:equivalentTo"} xref: MESH:C538005 {source="MONDO:equivalentTo"} xref: NCIT:C116718 {source="MONDO:equivalentTo"} xref: OMIM:128100 {source="DOID:0060730", source="GARD:0002027", source="MONDO:equivalentTo", source="Orphanet:256/btnt", source="MEDIC:C538005", source="Orphanet:256"} xref: Orphanet:256 {source="OMIM:128100", source="DOID:0060730", source="GARD:0002027", source="MONDO:equivalentTo"} xref: UMLS:C0013423 {source="MONDO:equivalentTo", source="Orphanet:256"} xref: UMLS:C3888090 {source="MONDO:equivalentTo", source="Orphanet:256"} is_a: MONDO:0100016 {source="MONDO:nv"} ! early-onset generalized dystonia property_value: exactMatch DOID:0060730 property_value: exactMatch http://identifiers.org/mesh/C538005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013423 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888090 property_value: exactMatch https://omim.org/entry/128100 property_value: exactMatch NCIT:C116718 property_value: exactMatch Orphanet:256 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2027/early-onset-generalized-dystonia xsd:anyURI {source="GARD:0002027"} [Term] id: MONDO:0007493 name: torsion dystonia 4 def: "DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis)." [Orphanet:98805] subset: ordo_disease {source="Orphanet:98805"} synonym: "autosomal dominant torsion dystonia-4" RELATED [GARD:0010138] synonym: "dystonia 4, torsion, autosomal dominant" RELATED [MONDO:Lexical, OMIM:128101] synonym: "dystonia musculorum deformans 4" RELATED [OMIM:128101] synonym: "DYT4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:128101, Orphanet:98805] synonym: "hereditary whispering dysphonia" EXACT [Orphanet:98805] synonym: "primary dystonia, DYT4 type" RELATED [Orphanet:98805] synonym: "torsion dystonia type 4" EXACT [DOID:0090041, MONDORULE:1] synonym: "whispering dysphonia" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/] synonym: "whispering dysphonia, hereditary" RELATED [OMIM:128101] xref: DOID:0090041 {source="MONDO:equivalentTo"} xref: OMIM:128101 {source="DOID:0090041", source="Orphanet:98805/e", source="MONDO:equivalentTo", source="Orphanet:98805"} xref: Orphanet:98805 {source="DOID:0090041", source="OMIM:128101", source="MONDO:equivalentTo"} xref: SCTID:719276005 {source="MONDO:equivalentTo"} xref: UMLS:C1851943 {source="OMIM:128101", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:98805"} xref: UMLS:C1860315 {source="MONDO:equivalentTo", source="Orphanet:98805"} is_a: MONDO:0015990 {source="Orphanet:98805"} ! focal, segmental or multifocal dystonia property_value: exactMatch DOID:0090041 property_value: exactMatch http://identifiers.org/snomedct/719276005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851943 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860315 property_value: exactMatch https://omim.org/entry/128101 property_value: exactMatch Orphanet:98805 [Term] id: MONDO:0007494 name: obsolete episodic kinesigenic dyskinesia 1 property_value: IAO:0000231 IAO:0000229 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2936 xsd:anyURI is_obsolete: true replaced_by: MONDO:0100352 [Term] id: MONDO:0007495 name: dystonia 5 def: "Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age." [Orphanet:98808] subset: ordo_disease {source="Orphanet:98808"} synonym: "autosomal dominant dopa-responsive dystonia" RELATED [Orphanet:98808] synonym: "autosomal dominant Segawa syndrome" EXACT [Orphanet:98808] synonym: "Dopa-responsive dystonia, autosomal dominant" RELATED [OMIM:128230] synonym: "Dopa-responsive dystonia; Segawa syndrome AD" RELATED [GARD:0012144] synonym: "DRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:128230] synonym: "dystonia 5" EXACT [OMIM:128230] synonym: "dystonia type 5" EXACT [DOID:0090043, MONDORULE:1] synonym: "dystonia, DOPA-responsive" RELATED [MONDO:Lexical, OMIM:128230] synonym: "dystonia, Dopa-responsive, autosomal dominant" RELATED [OMIM:128230] synonym: "dystonia, DOPA-responsive, with or without hyperphenylalaninemia" EXACT [OMIM:128230, OMIM:genemap2] synonym: "dystonia, progressive, with diurnal variation" RELATED [OMIM:128230] synonym: "dystonia-Parkinsonism with diurnal fluctuation" RELATED [OMIM:128230] synonym: "DYT-GCH1" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/] synonym: "DYT5a" EXACT [Orphanet:98808] synonym: "GTP cyclohydrolase 1-deficient dopa-responsive dystonia" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/] synonym: "GTPCH1-deficient dopa-responsive dystonia" EXACT [Orphanet:98808] synonym: "GTPCH1-deficient DRD" EXACT [Orphanet:98808] synonym: "hereditary progressive dystonia with marked diurnal fluctuation" EXACT [Orphanet:98808] synonym: "HPD with marked diurnal fluctuation" EXACT [Orphanet:98808] synonym: "Segawa syndrome, autosomal dominant" RELATED [OMIM:128230] xref: DOID:0090043 {source="MONDO:equivalentTo"} xref: OMIM:128230 {source="DOID:0090043", source="Orphanet:98808/e", source="MONDO:equivalentTo", source="Orphanet:98808"} xref: Orphanet:98808 {source="DOID:0090043", source="MONDO:equivalentTo", source="OMIM:128230"} xref: SCTID:715768000 {source="MONDO:equivalentTo"} xref: UMLS:CN207122 {source="MONDO:equivalentTo"} is_a: MONDO:0016812 {source="Orphanet:98808"} ! dopa-responsive dystonia is_a: MONDO:0017756 {source="Orphanet:98808"} ! disorder of pterin metabolism is_a: MONDO:0100184 {source="https://github.com/monarch-initiative/mondo/issues/1491", source="https://orcid.org/0000-0002-5655-9589"} ! GTP cyclohydrolase I deficiency property_value: exactMatch DOID:0090043 property_value: exactMatch http://identifiers.org/snomedct/715768000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207122 property_value: exactMatch https://omim.org/entry/128230 property_value: exactMatch Orphanet:98808 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007496 name: dystonia 12 def: "Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress." [Orphanet:71517] subset: ordo_disease {source="Orphanet:71517"} synonym: "ATP1A3 dystonic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "dystonia 12" EXACT [MONDO:Lexical, OMIM:128235, Orphanet:71517] synonym: "dystonia type 12" EXACT [DOID:0090056, MONDORULE:2, OMIM:128235] synonym: "dystonia-12" EXACT [OMIM:128235, OMIM:genemap2] synonym: "dystonia-Parkinsonism, rapid-onset" RELATED [OMIM:128235] synonym: "dystonic disorder caused by mutation in ATP1A3" EXACT [MONDO:design_pattern] synonym: "DYT-ATP1A3" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/] synonym: "DYT12" EXACT ABBREVIATION [MONDO:Lexical, OMIM:128235, Orphanet:71517] synonym: "rapid-onset dystonia-parkinsonism" RELATED [Orphanet:71517] synonym: "RDP" RELATED ABBREVIATION [GARD:0009628] xref: DOID:0090056 {source="MONDO:equivalentTo"} xref: MESH:C538001 {source="MONDO:equivalentTo"} xref: NCIT:C157577 {source="MONDO:equivalentTo"} xref: OMIM:128235 {source="Orphanet:71517/e", source="DOID:0090056", source="MONDO:equivalentTo", source="Orphanet:71517"} xref: Orphanet:71517 {source="DOID:0090056", source="OMIM:128235", source="MONDO:equivalentTo"} xref: SCTID:702323008 {source="MONDO:equivalentTo"} xref: UMLS:C1868681 {source="OMIM:128235", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:71517"} is_a: MONDO:0018329 {source="Orphanet:71517"} ! persistent combined dystonia is_a: MONDO:0021095 {source="Orphanet:71517"} ! parkinsonian disorder is_a: MONDO:0700002 ! ATP1A3-associated neurological disorder property_value: exactMatch DOID:0090056 property_value: exactMatch http://identifiers.org/mesh/C538001 property_value: exactMatch http://identifiers.org/snomedct/702323008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868681 property_value: exactMatch https://omim.org/entry/128235 property_value: exactMatch NCIT:C157577 property_value: exactMatch Orphanet:71517 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007500 name: ear malformation synonym: "cup Ear" RELATED [OMIM:128600] synonym: "ear malformation" EXACT [OMIM:128600] xref: ICD9:744.29 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:744.3 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: OMIM:128600 {source="MONDO:equivalentTo"} xref: SCTID:275259005 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://identifiers.org/snomedct/275259005 property_value: exactMatch https://omim.org/entry/128600 [Term] id: MONDO:0007504 name: thickened earlobes-conductive deafness syndrome def: "Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant." [Orphanet:2405] subset: ordo_malformation_syndrome {source="Orphanet:2405"} synonym: "earlobes, thickened, with conductive deafness from incudostapedial abnormalities" RELATED [OMIM:128980] synonym: "Escher Hirt syndrome" RELATED [GARD:0002195] synonym: "Escher-Hirt syndrome" EXACT [Orphanet:2405] xref: OMIM:128980 {source="MONDO:equivalentTo", source="Orphanet:2405", source="Orphanet:2405/e"} xref: Orphanet:2405 {source="OMIM:128980", source="MONDO:equivalentTo"} xref: SCTID:722476007 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="Orphanet:2405/inferred"} ! genetic disorder property_value: exactMatch http://identifiers.org/snomedct/722476007 property_value: exactMatch https://omim.org/entry/128980 property_value: exactMatch Orphanet:2405 [Term] id: MONDO:0007507 name: absence of fingerprints-congenital milia syndrome def: "Absence of fingerprints-congenital milia syndrome is characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait." [Orphanet:1658] subset: gard_rare subset: ordo_disease {source="Orphanet:1658"} synonym: "absence of dermatoglyphics congenital milia" RELATED [GARD:0002336] synonym: "absence of dermatoglyphics-congenital milia syndrome" EXACT [Orphanet:1658] synonym: "absence of fingerprints congenital milia" RELATED [GARD:0002336] synonym: "adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities" RELATED [GARD:0002336, OMIM:129200] synonym: "Baird syndrome" EXACT [GARD:0002336, Orphanet:1658] synonym: "Basan syndrome" RELATED [GARD:0002336, OMIM:129200] synonym: "ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and Simian Crease" RELATED [OMIM:129200] xref: DOID:0080725 {source="MONDO:equivalentTo"} xref: MESH:C537659 {source="MONDO:equivalentTo"} xref: OMIM:129200 {source="Orphanet:1658/e", source="MONDO:equivalentTo", source="Orphanet:1658"} xref: Orphanet:1658 {source="OMIM:129200", source="GARD:0002336", source="MONDO:equivalentTo"} xref: SCTID:239011004 {source="MONDO:equivalentTo"} is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch DOID:0080725 property_value: exactMatch http://identifiers.org/mesh/C537659 property_value: exactMatch http://identifiers.org/snomedct/239011004 property_value: exactMatch https://omim.org/entry/129200 property_value: exactMatch Orphanet:1658 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2336/absence-of-fingerprints-congenital-milia xsd:anyURI {source="GARD:0002336"} [Term] id: MONDO:0007509 name: ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant synonym: "ECTD10A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:129490] synonym: "ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant" EXACT [MONDO:Lexical, OMIM:129490] synonym: "ectodermal dysplasia hypohidrotic autosomal dominant" RELATED [GARD:0002048] synonym: "ectodermal dysplasia, hypohidrotic, autosomal dominant" RELATED [OMIM:129490] synonym: "hypohidrotic ectodermal dysplasia autosomal dominant" RELATED [GARD:0002048] xref: DOID:0111663 {source="MONDO:equivalentTo"} xref: OMIM:129490 {source="MONDO:equivalentTo"} xref: UMLS:C3888065 {source="MONDO:equivalentTo"} is_a: MONDO:0015884 {source="Orphanet:1810/btnt"} ! autosomal dominant hypohidrotic ectodermal dysplasia property_value: exactMatch DOID:0111663 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888065 property_value: exactMatch https://omim.org/entry/129490 [Term] id: MONDO:0007510 name: Clouston syndrome def: "Clouston syndrome (or hidrotic ectodermal dysplasia) is characterized by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis." [Orphanet:189] subset: do_inheritance_inconsistent subset: gard_rare subset: ordo_disease {source="Orphanet:189"} synonym: "alopecia, dysplastic nails, palmar and plantar hyperkeratosis" RELATED [GARD:0004253] synonym: "autosomal dominant hidrotic ectodermal dysplasia" RELATED [GARD:0002056] synonym: "Clouston hidrotic ectodermal dysplasia" RELATED [OMIM:129500] synonym: "Clouston syndrome" EXACT [OMIM:129500, Orphanet:189] synonym: "Clouston's hidrotic ectodermal dysplasia" EXACT [DOID:14693] synonym: "Clouston's syndrome" EXACT [DOID:14693] synonym: "ectodermal dysplasia 2, Clouston type" RELATED [OMIM:129500] synonym: "ectodermal dysplasia, hidrotic" RELATED [GARD:0002056] synonym: "ectodermal dysplasia, hidrotic, 2" RELATED [OMIM:129500] synonym: "ectodermal dysplasia, hidrotic, 2, formerly" RELATED [OMIM:129500] synonym: "ectodermal dysplasia, hidrotic, autosomal dominant" RELATED [OMIM:129500] synonym: "ED2" RELATED ABBREVIATION [GARD:0002056] synonym: "hidrotic ectodermal dysplasia" EXACT [DOID:14693, Orphanet:189-text] synonym: "hidrotic ectodermal dysplasia syndrome" EXACT [DOID:14693] synonym: "hidrotic ectodermal dysplasia, autosomal dominant" RELATED [GARD:0002056] synonym: "palmoplantar hyperkeratosis and alopecia" RELATED [GARD:0004253] synonym: "Patel Bixler syndrome" RELATED [GARD:0004253] xref: DOID:14693 {source="MONDO:equivalentTo"} xref: OMIM:129500 {source="Orphanet:189/e", source="MONDO:equivalentTo", source="DOID:14693", source="GARD:0004253", source="Orphanet:189"} xref: Orphanet:189 {source="OMIM:129500", source="MONDO:equivalentTo"} xref: SCTID:54209007 {source="MONDO:equivalentTo", source="DOID:14693"} is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma is_a: MONDO:0019287 {source="OMIM:129500", source="Orphanet:189"} ! ectodermal dysplasia syndrome property_value: exactMatch DOID:14693 property_value: exactMatch http://identifiers.org/snomedct/54209007 property_value: exactMatch https://omim.org/entry/129500 property_value: exactMatch Orphanet:189 [Term] id: MONDO:0007511 name: ectodermal dysplasia, trichoodontoonychial type def: "Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996." [Orphanet:1818] subset: gard_rare {source="GARD:0002055"} subset: ordo_malformation_syndrome {source="Orphanet:1818"} synonym: "ectodermal dysplasia trichoodontoonychial type" RELATED [GARD:0002055] synonym: "ectodermal dysplasia, trichoodontoonychial type" EXACT [OMIM:129510] xref: MESH:C565068 {source="MONDO:equivalentTo"} xref: OMIM:129510 {source="Orphanet:1818", source="MONDO:equivalentTo", source="Orphanet:1818/e"} xref: Orphanet:1818 {source="OMIM:129510", source="MONDO:equivalentTo"} xref: SCTID:734018003 {source="MONDO:equivalentTo"} xref: UMLS:C1851858 {source="Orphanet:1818", source="OMIM:129510", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019287 {source="MESH:C565068", source="Orphanet:1818"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C565068 property_value: exactMatch http://identifiers.org/snomedct/734018003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851858 property_value: exactMatch https://omim.org/entry/129510 property_value: exactMatch Orphanet:1818 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2055/ectodermal-dysplasia-trichoodontoonychial-type xsd:anyURI {source="GARD:0002055"} [Term] id: MONDO:0007522 name: Ehlers-Danlos syndrome, classic type def: "Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome that affects the connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility." [Orphanet:287] subset: ordo_disease {source="Orphanet:287"} synonym: "classic Ehlers-Danlos syndrome" RELATED [GARD:0002088] synonym: "classical Ehlers-Danlos syndrome" RELATED [GARD:0002088] synonym: "EDS I" RELATED DEPRECATED [OMIM:130000] synonym: "EDS I, formerly" RELATED [OMIM:130000] synonym: "EDS II" RELATED DEPRECATED [OMIM:130000] synonym: "EDS II, formerly" RELATED [OMIM:130000] synonym: "EDS, classic type" EXACT [Orphanet:287] synonym: "Ehlers Danlos syndrome, mild classic type" RELATED [OMIM:130000] synonym: "Ehlers Danlos syndrome, mild classic type, formerly" RELATED [OMIM:130000] synonym: "Ehlers Danlos syndrome, mitis type" RELATED [OMIM:130000] synonym: "Ehlers Danlos syndrome, mitis type, formerly" RELATED [OMIM:130000] synonym: "Ehlers-Danlos syndrome classic type" EXACT [] synonym: "Ehlers-Danlos syndrome classical type" RELATED [] synonym: "Ehlers-Danlos syndrome type 1 (formerly)" RELATED DEPRECATED [GARD:0002088] synonym: "Ehlers-Danlos syndrome type 2" RELATED DEPRECATED [OMIM:130000] synonym: "Ehlers-Danlos syndrome type 2 (formerly)" RELATED DEPRECATED [GARD:0002088] synonym: "Ehlers-Danlos syndrome, classic type" EXACT [OMIM:130000] synonym: "Ehlers-Danlos syndrome, gravis type" RELATED [OMIM:130000] synonym: "Ehlers-Danlos syndrome, gravis type, formerly" RELATED [OMIM:130000] synonym: "Ehlers-Danlos syndrome, severe classic type" RELATED [OMIM:130000] synonym: "Ehlers-Danlos syndrome, severe classic type, formerly" RELATED [OMIM:130000] synonym: "Ehlers-Danlos syndrome, type I" RELATED DEPRECATED [OMIM:130000] synonym: "Ehlers-Danlos syndrome, type I, formerly" RELATED [OMIM:130000] synonym: "Ehlers-Danlos syndrome, type II" RELATED DEPRECATED [OMIM:130000] synonym: "Ehlers-Danlos syndrome, type II, formerly" RELATED [OMIM:130000] xref: Orphanet:287 {source="MONDO:equivalentTo", source="OMIM:130000"} xref: SCTID:715318006 {source="MONDO:equivalentTo"} xref: UMLS:C0220679 {source="Orphanet:287", source="MONDO:directSiblingOf"} xref: UMLS:C4225429 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 {source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0020066 {source="DC-OMIM:130000", source="OMIM:130000", source="Orphanet:287"} ! Ehlers-Danlos syndrome property_value: exactMatch http://identifiers.org/snomedct/715318006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225429 property_value: exactMatch Orphanet:287 [Term] id: MONDO:0007523 name: Ehlers-Danlos syndrome, hypermobility type def: "Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS, a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations." [Orphanet:285] subset: ordo_disease {source="Orphanet:285"} synonym: "benign hypermobility syndrome" RELATED [OMIM:130020] synonym: "benign joint hypermobility syndrome" EXACT [Orphanet:285] synonym: "BJHS" EXACT ABBREVIATION [Orphanet:285] synonym: "EDS 3" RELATED [OMIM:130020] synonym: "EDS III" EXACT [Orphanet:285] synonym: "EDS3 (formerly)" RELATED DEPRECATED [GARD:0002081] synonym: "EDSHMB" EXACT ABBREVIATION [OMIM:130020] synonym: "Ehlers-Danlos syndrome type 3" EXACT [Orphanet:285] synonym: "Ehlers-Danlos syndrome type 3 (formerly)" EXACT [GARD:0002081] synonym: "Ehlers-Danlos syndrome, hypermobile type" EXACT [Orphanet:285] synonym: "Ehlers-Danlos syndrome, hypermobility type" EXACT [OMIM:130020] synonym: "Ehlers-Danlos syndrome, type 3" EXACT [OMIM:130020] synonym: "Ehlers-Danlos syndrome, type III" EXACT [NCIT:C125698] synonym: "hEDS" RELATED [GARD:0002081] synonym: "HT-EDS" EXACT [Orphanet:285] synonym: "hypermobile EDS" RELATED [GARD:0002081] synonym: "hypermobile Ehlers-Danlos syndrome" RELATED [GARD:0002081] xref: DOID:14757 {source="MONDO:equivalentTo"} xref: MESH:C536196 {source="DOID:14757", source="MONDO:equivalentTo"} xref: NCIT:C125698 {source="MONDO:equivalentTo"} xref: OMIM:130020 {source="DOID:14757", source="Orphanet:285/e", source="MONDO:equivalentTo", source="Orphanet:285"} xref: Orphanet:285 {source="MONDO:equivalentTo", source="OMIM:130020"} xref: SCTID:30652003 {source="DOID:14757", source="MONDO:equivalentTo"} xref: UMLS:C0268337 {source="DOID:14757", source="MONDO:equivalentTo", source="OMIM:130020", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C125698", source="Orphanet:285"} is_a: MONDO:0020066 {source="DC-OMIM:130020", source="DOID:14757", source="MESH:C536196", source="NCIT:C125698", source="OMIM:130020", source="Orphanet:285"} ! Ehlers-Danlos syndrome property_value: exactMatch DOID:14757 property_value: exactMatch http://identifiers.org/mesh/C536196 property_value: exactMatch http://identifiers.org/snomedct/30652003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268337 property_value: exactMatch https://omim.org/entry/130020 property_value: exactMatch NCIT:C125698 property_value: exactMatch Orphanet:285 [Term] id: MONDO:0007525 name: Ehlers-Danlos syndrome, arthrochalasis type def: "Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility ; congenital hip dislocation; fragile, hyperextensible skin; hypotonia ; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms." [GARD:0002084] subset: gard_rare {source="GARD:0002084"} subset: ordo_disease {source="Orphanet:1899"} synonym: "AEDS" RELATED ABBREVIATION [GARD:0002084] synonym: "arthrochalasia EDS" RELATED [GARD:0002084] synonym: "arthrochalasia Ehlers-Danlos syndrome" RELATED [GARD:0002084] synonym: "arthrochalasis multiplex congenita" RELATED [GARD:0002084, MESH:C562625, OMIM:130060] synonym: "EDS 7A" NARROW [OMIM:130060] synonym: "EDS 7B" NARROW [OMIM:130060] synonym: "EDS VII" EXACT [Orphanet:1899] synonym: "EDS VII, mutant procollagen type" RELATED [OMIM:130060] synonym: "EDS7A (formerly)" RELATED DEPRECATED [GARD:0002084] synonym: "EDSARTH1" RELATED ABBREVIATION [OMIM:130060] synonym: "Ehlers-Danlos syndrome type 7" EXACT [Orphanet:1899] synonym: "Ehlers-Danlos syndrome type 7A (formerly)" RELATED DEPRECATED [GARD:0002084] synonym: "Ehlers-Danlos syndrome, arthrochalasia type" EXACT [GARD:0002084, MESH:C562625, OMIM:130060, Orphanet:1899] synonym: "Ehlers-Danlos syndrome, arthrochalasia type, 1" RELATED [OMIM:130060] synonym: "Ehlers-Danlos syndrome, type VII" EXACT [NCIT:C125701] synonym: "Ehlers-Danlos syndrome, type VII, autosomal dominant" RELATED [OMIM:130060] synonym: "Ehlers-Danlos syndrome, type VIIA, autosomal dominant" RELATED [OMIM:130060] xref: DOID:0080727 {source="MONDO:equivalentTo"} xref: MESH:C562625 {source="MONDO:equivalentTo"} xref: NCIT:C125701 {source="MONDO:equivalentTo"} xref: OMIM:130060 {source="MONDO:equivalentTo", source="Orphanet:1899", source="GARD:0002084", source="Orphanet:1899/e"} xref: Orphanet:1899 {source="OMIM:130060", source="MONDO:equivalentTo", source="GARD:0002084"} xref: SCTID:4170004 {source="MONDO:equivalentTo"} xref: UMLS:CN200649 {source="MONDO:equivalentTo"} is_a: MONDO:0020066 {source="DC-OMIM:130060", source="MESH:C562625", source="NCIT:C125701", source="OMIM:130060", source="Orphanet:1899"} ! Ehlers-Danlos syndrome property_value: exactMatch DOID:0080727 property_value: exactMatch http://identifiers.org/mesh/C562625 property_value: exactMatch http://identifiers.org/snomedct/4170004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200649 property_value: exactMatch https://omim.org/entry/130060 property_value: exactMatch NCIT:C125701 property_value: exactMatch Orphanet:1899 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2084/arthrochalasia-ehlers-danlos-syndrome xsd:anyURI {source="GARD:0002084"} [Term] id: MONDO:0007526 name: Ehlers-Danlos syndrome, spondylodysplastic type def: "A form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." [Orphanet:75496] subset: ordo_disease {source="Orphanet:75496"} synonym: "B4GALT7-CDG" EXACT [Orphanet:75496] synonym: "defective biosynthesis of proteodermatan sulfate" EXACT [DOID:0050802, Orphanet:75496] synonym: "defective biosynthesis of proteodermatan sulphate" EXACT OMO:0003005 [] synonym: "dermatan sulfate proteoglycan" NARROW [OMIM:130070] synonym: "dermatan sulphate proteoglycan" NARROW OMO:0003005 [] synonym: "EDS, progeroid type" EXACT [Orphanet:75496] synonym: "EDSSPD1" NARROW ABBREVIATION [OMIM:130070] synonym: "Ehlers-Danlos syndrome progeroid type" EXACT [Orphanet:75496] synonym: "Ehlers-Danlos syndrome with short stature and limb anomalies" NARROW [OMIM:130070] synonym: "Ehlers-Danlos syndrome, progeroid type" RELATED [Orphanet:75496] synonym: "Ehlers-Danlos syndrome, progeroid type (former)" RELATED [GARD:0009991] synonym: "Ehlers-Danlos syndrome, spondylodysplastic type, 1" NARROW [OMIM:130070] synonym: "galactosyltransferase 1 deficiency" NARROW [OMIM:130070] synonym: "galactosyltransferase I deficiency" EXACT [Orphanet:75496] synonym: "PDS" EXACT ABBREVIATION [Orphanet:75496] synonym: "Pds, defective biosynthesis of" NARROW [OMIM:130070] synonym: "proteodermatan sulfate, defective biosynthesis of" NARROW [OMIM:130070] synonym: "spondylodysplastic Ehlers-Danlos syndrome" RELATED [GARD:0009991] synonym: "XGPT deficiency" NARROW [DOID:0050802, OMIM:130070, Orphanet:75496] synonym: "xylosylprotein 4-beta-galactosyltransferase deficiency" NARROW [DOID:0050802, OMIM:130070, Orphanet:75496] xref: DOID:0050802 {source="MONDO:equivalentTo"} xref: MESH:C536201 {source="Orphanet:75496/e", source="MONDO:equivalentTo", source="DOID:0050802", source="Orphanet:75496"} xref: Orphanet:75496 {source="OMIM:130070", source="MONDO:equivalentTo", source="DOID:0050802"} xref: SCTID:720861000 {source="MONDO:equivalentTo"} xref: UMLS:C1869122 {source="OMIM:130070", source="Orphanet:75496/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:0050802", source="Orphanet:75496"} is_a: MONDO:0017742 {source="Orphanet:75496"} ! disorder of O-xylosylglycan synthesis is_a: MONDO:0018292 {source="Orphanet:75496"} ! congenital disorder of glycosylation-related bone disorder is_a: MONDO:0020066 {source="DC-OMIM:130070", source="DOID:0050802", source="MESH:C536201", source="OMIM:130070", source="Orphanet:75496"} ! Ehlers-Danlos syndrome relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch DOID:0050802 property_value: exactMatch http://identifiers.org/mesh/C536201 property_value: exactMatch http://identifiers.org/snomedct/720861000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1869122 property_value: exactMatch Orphanet:75496 property_value: excluded_subClassOf MONDO:0005093 property_value: excluded_subClassOf MONDO:0019704 {source="Orphanet:75496"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5682 xsd:anyURI [Term] id: MONDO:0007527 name: Ehlers-Danlos syndrome, periodontitis type def: "Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility." [Orphanet:75392] subset: ordo_disease {source="Orphanet:75392"} synonym: "EDS 8" RELATED [OMIM:130080] synonym: "EDS VIII" EXACT [Orphanet:75392] synonym: "EDS VIII (formerly)" RELATED [GARD:0012474] synonym: "EDS8" RELATED ABBREVIATION [OMIM:130080] synonym: "EDS8 (formerly)" RELATED [GARD:0012474] synonym: "Ehlers-Danlos syndrome type 8" EXACT [Orphanet:75392] synonym: "Ehlers-Danlos syndrome type 8 (formerly)" RELATED [GARD:0012474] synonym: "Ehlers-Danlos syndrome, periodontitis type" EXACT [OMIM:130080] synonym: "Ehlers-Danlos syndrome, periodontosis type" RELATED [OMIM:130080] synonym: "Ehlers-Danlos syndrome, type 8" RELATED [OMIM:130080] synonym: "Ehlers-Danlos syndrome, type VIII" RELATED [OMIM:130080] synonym: "Ehlers-Danlos syndrome, type VIII (formerly)" RELATED [GARD:0012474] synonym: "pEDS" RELATED [GARD:0012474] synonym: "periodontal EDS" RELATED [GARD:0012474] synonym: "periodontal Ehlers-Danlos syndrome" RELATED [GARD:0012474] xref: MESH:C562626 {source="MONDO:equivalentTo"} xref: Orphanet:75392 {source="OMIM:130080", source="MONDO:equivalentTo"} xref: SCTID:50869007 {source="MONDO:equivalentTo"} is_a: MONDO:0020066 {source="DC-OMIM:130080", source="MESH:C562626", source="OMIM:130080", source="Orphanet:75392"} ! Ehlers-Danlos syndrome property_value: exactMatch http://identifiers.org/mesh/C562626 property_value: exactMatch http://identifiers.org/snomedct/50869007 property_value: exactMatch Orphanet:75392 [Term] id: MONDO:0007533 name: elliptocytosis 2 def: "Any hereditary elliptocytosis in which the cause of the disease is a mutation in the SPTA1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "EL2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:130600] synonym: "elliptocytosis 2" EXACT [MONDO:Lexical, OMIM:130600] synonym: "elliptocytosis type 2" EXACT [MONDORULE:1, OMIM:130600] synonym: "elliptocytosis, Rhesus-unlinked type" RELATED [OMIM:130600] synonym: "elliptocytosis-2" EXACT [OMIM:130600, OMIM:genemap2] synonym: "hereditary elliptocytosis caused by mutation in SPTA1" EXACT [MONDO:design_pattern] synonym: "SPTA1 hereditary elliptocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MESH:C565058 {source="MONDO:equivalentTo"} xref: OMIM:130600 {source="MONDO:equivalentTo"} xref: UMLS:C1851741 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:130600"} is_a: MONDO:0017319 {source="DC-OMIM:130600", source="MESH:C565058", source="MONDO:Redundant"} ! hereditary elliptocytosis property_value: exactMatch http://identifiers.org/mesh/C565058 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851741 property_value: exactMatch https://omim.org/entry/130600 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007534 name: Beckwith-Wiedemann syndrome def: "Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." [Orphanet:116] subset: gard_rare {source="GARD:0003343"} subset: ordo_malformation_syndrome {source="Orphanet:116"} synonym: "Beckwith-Wiedemann syndrome" EXACT [MONDO:Lexical, NCIT:C34415, OMIM:130650] synonym: "Beckwith-Wiedemann syndrome chromosome region" RELATED [OMIM:130650] synonym: "BWS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:130650, Orphanet:116] synonym: "EMG syndrome" RELATED [OMIM:130650] synonym: "exomphalos macroglossia gigantism syndrome" RELATED [GARD:0003343] synonym: "exomphalos-macroglossia-gigantism syndrome" EXACT [OMIM:130650, Orphanet:116] synonym: "Wiedemann-Beckwith syndrome" EXACT [OMIM:130650, Orphanet:116] synonym: "Wiedemann-Beckwith syndrome (WBS)" RELATED [GARD:0003343] xref: DOID:5572 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10050344 {source="Orphanet:116", source="Orphanet:116/e"} xref: MESH:D001506 {source="Orphanet:116", source="MONDO:equivalentTo", source="Orphanet:116/e", source="DOID:5572"} xref: NCIT:C34415 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5572"} xref: OMIM:130650 {source="Orphanet:116", source="MONDO:equivalentTo", source="Orphanet:116/e", source="DOID:5572"} xref: Orphanet:116 {source="MONDO:equivalentTo", source="OMIM:130650", source="DOID:5572"} xref: SCTID:81780002 {source="MONDO:equivalentTo", source="DOID:5572"} xref: UMLS:C0004903 {source="Orphanet:116", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:116/e", source="OMIM:130650", source="NCIT:C34415", source="DOID:5572"} is_a: MONDO:0017891 {source="Orphanet:116"} ! inherited renal cancer-predisposing syndrome is_a: MONDO:0019716 {source="Orphanet:116"} ! overgrowth syndrome is_a: MONDO:0024573 ! familial hypertrophic cardiomyopathy property_value: closeMatch http://identifiers.org/meddra/10050344 property_value: exactMatch DOID:5572 property_value: exactMatch http://identifiers.org/mesh/D001506 property_value: exactMatch http://identifiers.org/snomedct/81780002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004903 property_value: exactMatch https://omim.org/entry/130650 property_value: exactMatch NCIT:C34415 property_value: exactMatch Orphanet:116 property_value: excluded_subClassOf MONDO:0015496 {source="Orphanet:116"} property_value: excluded_subClassOf MONDO:0015501 {source="Orphanet:116"} property_value: excluded_subClassOf MONDO:0019721 {source="Orphanet:116"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3343/beckwith-wiedemann-syndrome xsd:anyURI {source="GARD:0003343"} [Term] id: MONDO:0007536 name: congenital lobar emphysema def: "Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung." [Orphanet:1928] subset: ordo_morphological_anomaly {source="Orphanet:1928"} synonym: "CLE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:130710] synonym: "congenital lobar hyperinflation" EXACT [Orphanet:1928] synonym: "emphysema, congenital lobar" RELATED [MONDO:Lexical, OMIM:130710] synonym: "infantile lobar hyperinflation" EXACT [Orphanet:1928] xref: MedDRA:10010456 {source="Orphanet:1928", source="Orphanet:1928/e"} xref: MESH:C535735 {source="Orphanet:1928", source="MONDO:equivalentTo", source="Orphanet:1928/e"} xref: NCIT:C98895 {source="MONDO:equivalentTo"} xref: OMIM:130710 {source="Orphanet:1928", source="MONDO:equivalentTo", source="Orphanet:1928/e"} xref: Orphanet:1928 {source="MONDO:equivalentTo", source="OMIM:130710"} xref: SCTID:66987001 {source="MONDO:equivalentTo"} xref: UMLS:C0265797 {source="Orphanet:1928", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1928/e", source="NCIT:C98895", source="OMIM:130710"} is_a: EFO:0000464 {source="DC-OMIM:130710", source="MESH:C535735", source="MONDO:Redundant", source="NCIT:C98895"} ! emphysema is_a: MONDO:0015930 {source="Orphanet:1928"} ! respiratory malformation is_a: MONDO:0020023 {source="Orphanet:1928/inferred", source="https://github.com/monarch-initiative/mondo-build/issues/58"} ! respiratory or mediastinal malformation property_value: closeMatch http://identifiers.org/meddra/10010456 property_value: exactMatch http://identifiers.org/mesh/C535735 property_value: exactMatch http://identifiers.org/snomedct/66987001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265797 property_value: exactMatch https://omim.org/entry/130710 property_value: exactMatch NCIT:C98895 property_value: exactMatch Orphanet:1928 property_value: excluded_subClassOf MONDO:0015221 {source="Orphanet:1928"} [Term] id: MONDO:0007537 name: lateral meningocele syndrome subset: ordo_malformation_syndrome {source="Orphanet:2789"} synonym: "lateral meningocele syndrome" EXACT [MONDO:Lexical, OMIM:130720] synonym: "Lehman syndrome" EXACT [OMIM:130720, Orphanet:2789] synonym: "LMNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:130720] synonym: "Lms" RELATED [OMIM:130720] xref: DOID:0111343 {source="MONDO:equivalentTo"} xref: MESH:C537878 {source="MONDO:equivalentTo"} xref: OMIM:130720 {source="MONDO:equivalentTo", source="Orphanet:2789", source="Orphanet:2789/e"} xref: Orphanet:2789 {source="MONDO:equivalentTo", source="OMIM:130720"} xref: UMLS:C1851710 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2789", source="OMIM:130720", source="Orphanet:2789/e"} is_a: MONDO:0018075 {source="MONDO:0017085-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neural tube defect property_value: exactMatch DOID:0111343 property_value: exactMatch http://identifiers.org/mesh/C537878 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851710 property_value: exactMatch https://omim.org/entry/130720 property_value: exactMatch Orphanet:2789 [Term] id: MONDO:0007538 name: amelogenesis imperfecta, type 3A def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the FAM83H gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_clinical_subtype {source="Orphanet:100032"} synonym: "ADHCAI" EXACT ABBREVIATION [DOID:0110055] synonym: "AI3" EXACT ABBREVIATION [DOID:0110055, MONDO:Lexical, OMIM:130900] synonym: "AI3A" RELATED ABBREVIATION [OMIM:130900] synonym: "amelogenesis imperfecta caused by mutation in FAM83H" EXACT [MONDO:design_pattern] synonym: "amelogenesis imperfecta hypomineralization type" BROAD [DOID:0110055] synonym: "amelogenesis imperfecta type 3" BROAD [Orphanet:100032] synonym: "amelogenesis imperfecta type 3A" RELATED [DOID:0110055] synonym: "amelogenesis imperfecta type III" BROAD [DOID:0110055] synonym: "amelogenesis imperfecta, hypocalcification type, autosomal dominant" RELATED [OMIM:130900] synonym: "amelogenesis imperfecta, hypomineralization type" RELATED [OMIM:130900] synonym: "amelogenesis imperfecta, type 3" RELATED [OMIM:130900] synonym: "amelogenesis imperfecta, type 3A" EXACT [OMIM:130900] synonym: "amelogenesis imperfecta, type III" RELATED [MONDO:Lexical, OMIM:130900] synonym: "amelogenesis imperfecta, type IIIA" RELATED [OMIM:130900] synonym: "autosomal dominant amelogenesis imperfecta hypocalcification type" EXACT [DOID:0110055] synonym: "FAM83H amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110055 {source="MONDO:equivalentTo"} xref: MESH:C562880 {source="MONDO:equivalentTo"} xref: OMIM:130900 {source="Orphanet:100032", source="MONDO:equivalentTo", source="Orphanet:100032/e", source="DOID:0110055"} xref: Orphanet:100032 {source="MONDO:mondoIsNarrowerThanSource", source="OMIM:130900"} xref: SCTID:109471001 {source="MONDO:equivalentTo"} is_a: MONDO:0019507 {source="DC-OMIM:130900", source="DOID:0110055", source="MESH:C562880", source="MONDO:Redundant", source="OMIM:130900", source="Orphanet:100032"} ! amelogenesis imperfecta property_value: broadMatch Orphanet:100032 property_value: exactMatch DOID:0110055 property_value: exactMatch http://identifiers.org/mesh/C562880 property_value: exactMatch http://identifiers.org/snomedct/109471001 property_value: exactMatch https://omim.org/entry/130900 [Term] id: MONDO:0007540 name: multiple endocrine neoplasia type 1 def: "Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN, a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients." [Orphanet:652] subset: gard_rare {source="GARD:0003829"} subset: ordo_disease {source="Orphanet:652"} synonym: "endocrine adenomatosis multiple" RELATED [GARD:0003829] synonym: "endocrine adenomatosis, multiple" RELATED [OMIM:131100] synonym: "MEA 1" RELATED [OMIM:131100] synonym: "MEA type 1" EXACT [NCIT:C3225] synonym: "MEA type I" EXACT [NCIT:C3225] synonym: "men 1" EXACT [NCIT:C3225] synonym: "men type 1" EXACT [NCIT:C3225] synonym: "men type I" EXACT [DOID:10017, NCIT:C3225] synonym: "MEN1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:131100, Orphanet:652] synonym: "MEN1 multiple endocrine neoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "MEN1 somatic mutations" RELATED [OMIM:131100] synonym: "MEN1 syndrome" EXACT [NCIT:C3225] synonym: "multiple endocrine adenomatosis" BROAD [NCIT:C3225] synonym: "multiple endocrine adenomatosis type 1" EXACT [NCIT:C3225] synonym: "multiple endocrine adenomatosis type I" EXACT [NCIT:C3225] synonym: "multiple endocrine adenomatosis, type I" EXACT [NCIT:C3225] synonym: "multiple endocrine neoplasia 1" EXACT [OMIM:131100, OMIM:genemap2] synonym: "multiple endocrine neoplasia caused by mutation in MEN1" EXACT [MONDO:design_pattern] synonym: "multiple endocrine neoplasia type 1" EXACT [DOID:10017, NCIT:C3225] synonym: "multiple endocrine neoplasia type 1 syndrome" EXACT [NCIT:C3225] synonym: "multiple endocrine neoplasia type I" EXACT [NCIT:C3225] synonym: "multiple endocrine neoplasia, type 1" RELATED [OMIM:131100] synonym: "multiple endocrine neoplasia, type I" EXACT [MONDO:Lexical, NCIT:C3225, OMIM:131100] synonym: "Wermer syndrome" EXACT [DOID:10017, NCIT:C3225, OMIM:131100, Orphanet:652] synonym: "Wermer's syndrome" EXACT [DOID:10017, NCIT:C3225] xref: DOID:10017 {source="MONDO:equivalentTo"} xref: ICD9:237.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:258.01 {source="DOID:10017", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10028190 {source="Orphanet:652/e", source="Orphanet:652"} xref: MESH:D018761 {source="DOID:10017", source="Orphanet:652/e", source="MONDO:equivalentTo", source="Orphanet:652"} xref: NCIT:C3225 {source="DOID:10017", source="MONDO:equivalentTo"} xref: OMIM:131100 {source="DOID:10017", source="Orphanet:652/e", source="MONDO:equivalentTo", source="Orphanet:652"} xref: Orphanet:652 {source="DOID:10017", source="MONDO:equivalentTo", source="OMIM:131100"} xref: SCTID:30664006 {source="DOID:10017", source="MONDO:equivalentTo"} xref: UMLS:C0025267 {source="DOID:10017", source="Orphanet:652/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:131100", source="NCIT:C3225", source="Orphanet:652"} is_a: EFO:0003850 {source="Orphanet:652"} ! adrenal gland neoplasm is_a: MONDO:0000426 {source="DOID:10017", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0016365 {source="Orphanet:652"} ! familial primary hyperparathyroidism is_a: MONDO:0017169 {source="DC-OMIM:131100", source="MONDO:Redundant", source="NCIT:C3225", source="OMIM:131100", source="Orphanet:652"} ! multiple endocrine neoplasia is_a: MONDO:0018538 {source="Orphanet:652"} ! inherited digestive cancer-predisposing syndrome property_value: closeMatch http://identifiers.org/meddra/10028190 property_value: exactMatch DOID:10017 property_value: exactMatch http://identifiers.org/mesh/D018761 property_value: exactMatch http://identifiers.org/snomedct/30664006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025267 property_value: exactMatch https://omim.org/entry/131100 property_value: exactMatch NCIT:C3225 property_value: exactMatch Orphanet:652 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3829/multiple-endocrine-neoplasia-type-1 xsd:anyURI {source="GARD:0003829"} [Term] id: MONDO:0007542 name: Camurati-Engelmann disease def: "Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability." [https://github.com/monarch-initiative/monarch-disease-ontology/issues/399, Orphanet:1328] subset: ordo_malformation_syndrome {source="Orphanet:1328"} synonym: "CAEND" RELATED ABBREVIATION [MONDO:Lexical, OMIM:131300] synonym: "Camurati-Engelmann disease" EXACT [MONDO:Lexical, OMIM:131300] synonym: "Camurati-Engelmann syndrome" EXACT [NCIT:C84610] synonym: "Camurati-Englemann disease" EXACT [NCIT:C84610] synonym: "CED" RELATED ABBREVIATION [OMIM:131300] synonym: "diaphyseal dysplasia" EXACT [DOID:4997] synonym: "diaphyseal dysplasia 1, progressive" RELATED [OMIM:131300] synonym: "DPD1" RELATED ABBREVIATION [GARD:0001072] synonym: "Engelman's disease" EXACT [DOID:4997] synonym: "Engelmann disease" RELATED [OMIM:131300] synonym: "progressive diaphyseal dysplasia" EXACT [DOID:4997, OMIM:131300, Orphanet:1328] xref: DOID:4997 {source="MONDO:equivalentTo"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C84610 {source="MONDO:equivalentTo", source="DOID:4997"} xref: OMIM:131300 {source="Orphanet:1328/e", source="MONDO:equivalentTo", source="DOID:4997", source="Orphanet:1328"} xref: Orphanet:1328 {source="MONDO:equivalentTo", source="OMIM:131300"} xref: SCTID:318761000119105 {source="MONDO:equivalentTo", source="DOID:4997"} xref: UMLS:C0011989 {source="Orphanet:1328/e", source="MONDO:equivalentTo", source="DOID:4997", source="MONDO:ncbi_mim2gene_medline", source="OMIM:131300", source="Orphanet:1328", source="NCIT:C84610"} is_a: MONDO:0002254 {source="NCIT:C84610"} ! syndromic disease is_a: MONDO:0800084 {source="PMID:31633310"} ! primary bone dysplasia with increased bone density property_value: exactMatch DOID:4997 property_value: exactMatch http://identifiers.org/snomedct/318761000119105 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011989 property_value: exactMatch https://omim.org/entry/131300 property_value: exactMatch NCIT:C84610 property_value: exactMatch Orphanet:1328 property_value: excluded_subClassOf MONDO:0002933 {source="DOID:4997"} property_value: excluded_subClassOf MONDO:0019703 {source="Orphanet:1328"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0007548 name: transient bullous dermolysis of the newborn def: "Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life." [Orphanet:79411] subset: gard_rare {source="GARD:0010010"} subset: ordo_disease {source="Orphanet:79411"} synonym: "DEB, bullous dermolysis of the newborn" EXACT [Orphanet:79411] synonym: "DEB-BDN" EXACT [Orphanet:79411] synonym: "dystrophic epidermolysis bullosa, neonatal" RELATED [OMIM:131705] synonym: "epidermolysis bullosa dystrophica, dominant neonatal form" RELATED [GARD:0010010] synonym: "epidermolysis bullosa dystrophica, neonatal form" RELATED [OMIM:131705] synonym: "MONDON" RELATED ABBREVIATION [MONDO:Lexical, OMIM:131705] synonym: "TBDN" RELATED ABBREVIATION [GARD:0010010, OMIM:131705] synonym: "transient bullous dermolysis of the newborn" EXACT [MONDO:Lexical, OMIM:131705] synonym: "transient bullous of the newborn" EXACT [OMIM:131705, OMIM:genemap2] xref: DOID:0111345 {source="MONDO:equivalentTo"} xref: MESH:C536979 {source="Orphanet:79411/e", source="MONDO:equivalentTo", source="Orphanet:79411"} xref: OMIM:131705 {source="Orphanet:79411/e", source="MONDO:equivalentTo", source="Orphanet:79411"} xref: Orphanet:79411 {source="OMIM:131705", source="MONDO:equivalentTo"} xref: UMLS:C1851573 {source="OMIM:131705", source="Orphanet:79411/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:79411"} is_a: EFO:1000692 {source="Orphanet:79411"} ! epidermolysis bullosa dystrophica property_value: exactMatch DOID:0111345 property_value: exactMatch http://identifiers.org/mesh/C536979 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851573 property_value: exactMatch https://omim.org/entry/131705 property_value: exactMatch Orphanet:79411 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10010/transient-bullous-dermolysis-of-the-newborn xsd:anyURI {source="GARD:0010010"} [Term] id: MONDO:0007549 name: generalized dominant dystrophic epidermolysis bullosa def: "Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails." [Orphanet:231568] subset: ordo_disease {source="Orphanet:231568"} synonym: "Albopapuloid dominant dystrophic epidermolysis bullosa" RELATED [OMIM:131750] synonym: "autosomal dominant dystrophic epidermolysis bullosa" RELATED [DOID:0080224] synonym: "autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types" EXACT [Orphanet:231568] synonym: "DDEB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:131750] synonym: "DDEB, generalised" EXACT OMO:0003005 [] synonym: "DDEB, generalized" EXACT [Orphanet:231568] synonym: "DDEB, Pasini and Cockayne-Touraine types" EXACT [Orphanet:231568] synonym: "DDEB-gen" EXACT [Orphanet:231568] synonym: "dominant dystrophic epidermolysis bullosa" RELATED [GARD:0002139] synonym: "dominant dystrophic epidermolysis bullosa, generalised" RELATED OMO:0003005 [] synonym: "dominant dystrophic epidermolysis bullosa, generalized" RELATED [GARD:0002139] synonym: "dystrophic epidermolysis bullosa, autosomal dominant" RELATED [OMIM:131750] synonym: "epidermolysis bullosa dystrophica with subcorneal cleavage" RELATED [OMIM:131750] synonym: "epidermolysis bullosa dystrophica, AD" EXACT [OMIM:131750, OMIM:genemap2] synonym: "epidermolysis bullosa dystrophica, autosomal dominant" RELATED [MONDO:Lexical, OMIM:131750] synonym: "epidermolysis bullosa dystrophica, Cockayne-Touraine type" RELATED [OMIM:131750] synonym: "epidermolysis bullosa dystrophica, Cockayne-Touraine type (formerly)" RELATED [GARD:0002139] synonym: "epidermolysis bullosa dystrophica, Pasini type" RELATED [OMIM:131750] synonym: "epidermolysis bullosa dystrophica, Pasini type (formerly)" RELATED [GARD:0002139] xref: DOID:0080224 {source="MONDO:equivalentTo"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:131750 {source="DOID:0080224", source="MONDO:equivalentTo", source="Orphanet:231568", source="Orphanet:231568/e"} xref: Orphanet:231568 {source="MONDO:equivalentTo", source="OMIM:131750"} xref: SCTID:75875004 {source="MONDO:equivalentTo"} is_a: EFO:1000692 {source="DC-OMIM:131750", source="DOID:0080224", source="Orphanet:231568"} ! epidermolysis bullosa dystrophica property_value: exactMatch DOID:0080224 property_value: exactMatch http://identifiers.org/snomedct/75875004 property_value: exactMatch https://omim.org/entry/131750 property_value: exactMatch Orphanet:231568 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007550 name: epidermolysis bullosa simplex 1A, generalized severe def: "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration." [https://orcid.org/0000-0001-5208-3432, Orphanet:79396] subset: gard_rare {source="GARD:0002141"} subset: ordo_disease {source="Orphanet:79396"} synonym: "Dowling-Meara type epidermolysis bullosa simplex" RELATED [GARD:0002141] synonym: "EBS, generalised severe" EXACT OMO:0003005 [] synonym: "EBS, generalized severe" EXACT [Orphanet:79396] synonym: "EBS-DM" RELATED [GARD:0002141] synonym: "EBS-gen sev" EXACT [DOID:0060735] synonym: "EBSDM" EXACT ABBREVIATION [DOID:0060735, MONDO:Lexical, OMIM:131760] synonym: "epidermolysis bullosa herpetiformis Dowling-Meara type" EXACT [DOID:0060735] synonym: "epidermolysis bullosa herpetiformis, Dowling-Meara type" RELATED [OMIM:131760] synonym: "epidermolysis bullosa simplex 1A, generalized severe" EXACT [OMIM:131760, OMIM:genemap2] synonym: "epidermolysis bullosa simplex Dowling-Meara type" EXACT [OMIM:131760] synonym: "epidermolysis bullosa simplex, Dowling-Meara type" RELATED [MONDO:Lexical, OMIM:131760] synonym: "epidermolysis bullosa simplex, generalised severe" RELATED OMO:0003005 [] synonym: "epidermolysis bullosa simplex, generalized severe" RELATED [OMIM:131760] synonym: "epidermolysis bullosa simplex, herpetiformis" EXACT [DOID:0060735, Orphanet:79396] synonym: "generalised severe epidermolysis bullosa simplex" EXACT OMO:0003005 [] synonym: "generalized severe epidermolysis bullosa simplex" EXACT [DOID:0060735] xref: DOID:0060735 {source="MONDO:equivalentTo"} xref: ICD9:771.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:131760 {source="Orphanet:79396/e", source="MONDO:equivalentTo", source="DOID:0060735", source="Orphanet:79396"} xref: Orphanet:79396 {source="MONDO:equivalentTo", source="OMIM:131760", source="DOID:0060735"} xref: SCTID:254179000 {source="MONDO:equivalentTo"} is_a: MONDO:0017610 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex property_value: exactMatch DOID:0060735 property_value: exactMatch http://identifiers.org/snomedct/254179000 property_value: exactMatch https://omim.org/entry/131760 property_value: exactMatch Orphanet:79396 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4499 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2141/epidermolysis-bullosa-simplex-dowling-meara-type xsd:anyURI {source="GARD:0002141"} [Term] id: MONDO:0007551 name: epidermolysis bullosa simplex 1C, localized def: "A basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather." [https://orcid.org/0000-0001-5208-3432, Orphanet:79400] subset: gard_rare {source="GARD:0002146"} subset: ordo_disease {source="Orphanet:79400"} synonym: "EBS, acral form" RELATED [OMIM:131800] synonym: "EBS-loc" EXACT [Orphanet:79400] synonym: "epidermolysis bullosa of hands and feet" RELATED [OMIM:131800] synonym: "epidermolysis bullosa simplex 1C, localized" EXACT [OMIM:131800, OMIM:genemap2] synonym: "epidermolysis bullosa simplex of palms and soles" EXACT [Orphanet:79400] synonym: "epidermolysis bullosa simplex, localised" RELATED OMO:0003005 [] synonym: "epidermolysis bullosa simplex, localized" RELATED [OMIM:131800] synonym: "epidermolysis bullosa simplex, Weber-Cockayne type" EXACT [OMIM:131800, Orphanet:79400] synonym: "localised epidermolysis bullosa simplex" EXACT OMO:0003005 [] synonym: "localized epidermolysis bullosa simplex" EXACT [Orphanet:79400] synonym: "Weber-Cockayne syndrome" RELATED [GARD:0002146] synonym: "Weber-Cockayne type epidermolysis bullosa simplex" RELATED [GARD:0002146] xref: DOID:0080510 {source="MONDO:equivalentTo"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:131800 {source="Orphanet:79400/e", source="MONDO:equivalentTo", source="Orphanet:79400"} xref: Orphanet:79400 {source="OMIM:131800", source="MONDO:equivalentTo"} xref: SCTID:294705005 {source="MONDO:equivalentTo"} is_a: MONDO:0017610 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex property_value: exactMatch DOID:0080510 property_value: exactMatch http://identifiers.org/snomedct/294705005 property_value: exactMatch https://omim.org/entry/131800 property_value: exactMatch Orphanet:79400 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4499 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2146/epidermolysis-bullosa-simplex-localized xsd:anyURI {source="GARD:0002146"} [Term] id: MONDO:0007552 name: pretibial dystrophic epidermolysis bullosa def: "Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region." [Orphanet:79410] subset: ordo_disease {source="Orphanet:79410"} synonym: "Deb, pretibial" RELATED [OMIM:131850] synonym: "DEB-Pt" EXACT [Orphanet:79410] synonym: "dystrophic epidermolysis bullosa, pretibial" RELATED [OMIM:131850] synonym: "epidermolysis bullosa dystrophica, pretibial" RELATED [OMIM:131850] synonym: "epidermolysis bullosa, pretibial" RELATED [OMIM:131850] synonym: "pretibial DEB" EXACT [Orphanet:79410] synonym: "pretibial epidermolysis bullosa" RELATED [GARD:0002155] xref: DOID:0080988 {source="MONDO:equivalentTo"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535494 {source="MONDO:equivalentTo"} xref: OMIM:131850 {source="Orphanet:79410/e", source="MONDO:equivalentTo", source="Orphanet:79410"} xref: Orphanet:79410 {source="MONDO:equivalentTo", source="OMIM:131850"} xref: SCTID:67653003 {source="MONDO:equivalentTo"} is_a: EFO:1000692 {source="DC-OMIM:131850", source="MESH:C535494", source="Orphanet:79410"} ! epidermolysis bullosa dystrophica property_value: exactMatch DOID:0080988 property_value: exactMatch http://identifiers.org/mesh/C535494 property_value: exactMatch http://identifiers.org/snomedct/67653003 property_value: exactMatch https://omim.org/entry/131850 property_value: exactMatch Orphanet:79410 [Term] id: MONDO:0007554 name: epidermolysis bullosa simplex 1B, generalized intermediate def: "Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kobner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction." [Orphanet:79399] subset: ordo_disease {source="Orphanet:79399"} synonym: "EBS, generalised" RELATED OMO:0003005 [] synonym: "EBS, generalised intermediate" EXACT OMO:0003005 [] synonym: "EBS, generalized" RELATED [OMIM:131900] synonym: "EBS, generalized intermediate" EXACT [Orphanet:79399] synonym: "EBS-K" RELATED [GARD:0002147] synonym: "epidermolysis bullosa simplex 1B, generalized intermediate" EXACT [OMIM:131900, OMIM:genemap2] synonym: "epidermolysis bullosa simplex, generalised" RELATED OMO:0003005 [] synonym: "epidermolysis bullosa simplex, generalised intermediate" RELATED OMO:0003005 [] synonym: "epidermolysis bullosa simplex, generalised non-Dowling-Meara" RELATED OMO:0003005 [] synonym: "epidermolysis bullosa simplex, generalized" RELATED [OMIM:131900] synonym: "epidermolysis bullosa simplex, generalized intermediate" RELATED [Orphanet:79399] synonym: "epidermolysis bullosa simplex, generalized non-Dowling-Meara" RELATED [GARD:0002147] synonym: "epidermolysis bullosa simplex, Kobner type" EXACT [Orphanet:79399] synonym: "epidermolysis bullosa simplex, Koebner type" EXACT [OMIM:131900, Orphanet:79399] synonym: "epidermolysis bullosa simplex, Köbner type" EXACT [Orphanet:79399] synonym: "generalised EBS" RELATED OMO:0003005 [] synonym: "generalised EBS, non-Dowling-Meara type" EXACT OMO:0003005 [] synonym: "generalised epidermolysis bullosa simplex, non-Dowling-Meara type" EXACT OMO:0003005 [] synonym: "generalized EBS" RELATED [GARD:0002147] synonym: "generalized EBS, non-Dowling-Meara type" EXACT [Orphanet:79399] synonym: "generalized epidermolysis bullosa simplex, non-Dowling-Meara type" EXACT [Orphanet:79399] xref: DOID:0080511 {source="MONDO:equivalentTo"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:131900 {source="Orphanet:79399/e", source="MONDO:equivalentTo", source="Orphanet:79399"} xref: Orphanet:79399 {source="OMIM:131900", source="MONDO:equivalentTo"} xref: SCTID:90496008 {source="MONDO:equivalentTo"} is_a: MONDO:0017610 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex property_value: exactMatch DOID:0080511 property_value: exactMatch http://identifiers.org/snomedct/90496008 property_value: exactMatch https://omim.org/entry/131900 property_value: exactMatch Orphanet:79399 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4499 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007555 name: pidermolysis bullosa simplex 5A, Ogna type def: "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering." [https://orcid.org/0000-0001-5208-3432, Orphanet:79401] subset: gard_rare {source="GARD:0002148"} subset: ordo_disease {source="Orphanet:79401"} synonym: "EBS-O" EXACT [DOID:0060736, Orphanet:79401] synonym: "EBS-Og" EXACT [DOID:0060736] synonym: "EBSOG" EXACT ABBREVIATION [DOID:0060736, MONDO:Lexical, OMIM:131950] synonym: "epidermolysis bullosa simplex 5A, Ogna type" EXACT [OMIM:131950, OMIM:genemap2] synonym: "epidermolysis bullosa simplex, Ogna type" EXACT [MONDO:Lexical, OMIM:131950] xref: DOID:0060736 {source="MONDO:equivalentTo"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535962 {source="Orphanet:79401/e", source="MONDO:equivalentTo", source="Orphanet:79401"} xref: OMIM:131950 {source="Orphanet:79401/e", source="MONDO:equivalentTo", source="DOID:0060736", source="Orphanet:79401"} xref: Orphanet:79401 {source="MONDO:equivalentTo", source="DOID:0060736", source="OMIM:131950"} xref: SCTID:398071000 {source="MONDO:equivalentTo"} is_a: MONDO:0017610 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex property_value: exactMatch DOID:0060736 property_value: exactMatch http://identifiers.org/mesh/C535962 property_value: exactMatch http://identifiers.org/snomedct/398071000 property_value: exactMatch https://omim.org/entry/131950 property_value: exactMatch Orphanet:79401 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4499 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2148/epidermolysis-bullosa-simplex-ogna-type xsd:anyURI {source="GARD:0002148"} [Term] id: MONDO:0007556 name: epidermolysis bullosa simplex 2F, with mottled pigmentation def: "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering with mottled or reticulate brown pigmentation." [https://orcid.org/0000-0001-5208-3432, Orphanet:79397] subset: gard_rare {source="GARD:0009737"} subset: ordo_disease {source="Orphanet:79397"} synonym: "EBS with mottled pigmentation" RELATED [GARD:0009737] synonym: "EBS-MP" EXACT [Orphanet:79397] synonym: "EBSMP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:131960] synonym: "epidermolysis bullosa simplex 2F, with mottled pigmentation" EXACT [OMIM:131960, OMIM:genemap2] synonym: "epidermolysis bullosa simplex with mottled pigmentation" EXACT [MONDO:Lexical, OMIM:131960] synonym: "speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering" RELATED [OMIM:131960] synonym: "speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering" RELATED [GARD:0009737] xref: DOID:0111346 {source="MONDO:equivalentTo"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535959 {source="Orphanet:79397/e", source="MONDO:equivalentTo", source="Orphanet:79397"} xref: OMIM:131960 {source="Orphanet:79397/e", source="MONDO:equivalentTo", source="Orphanet:79397"} xref: Orphanet:79397 {source="MONDO:equivalentTo", source="OMIM:131960"} xref: SCTID:254180002 {source="MONDO:equivalentTo"} is_a: MONDO:0017610 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex property_value: exactMatch DOID:0111346 property_value: exactMatch http://identifiers.org/mesh/C535959 property_value: exactMatch http://identifiers.org/snomedct/254180002 property_value: exactMatch https://omim.org/entry/131960 property_value: exactMatch Orphanet:79397 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4499 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9737/epidermolysis-bullosa-simplex-with-mottled-pigmentation xsd:anyURI {source="GARD:0009737"} [Term] id: MONDO:0007558 name: benign occipital epilepsy def: "Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes." [Orphanet:25968] subset: gard_rare {source="GARD:0002170"} subset: ordo_disease {source="Orphanet:25968"} synonym: "BOE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:132090] synonym: "epilepsy, benign occipital" RELATED [MONDO:Lexical, OMIM:132090] xref: OMIM:132090 {source="Orphanet:25968", source="MONDO:equivalentTo", source="Orphanet:25968/e"} xref: Orphanet:25968 {source="MONDO:equivalentTo", source="OMIM:132090"} xref: UMLS:C1851549 {source="Orphanet:25968", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:25968/e", source="OMIM:132090"} is_a: MONDO:0020072 {source="Orphanet:25968"} ! childhood-onset epilepsy syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851549 property_value: exactMatch https://omim.org/entry/132090 property_value: exactMatch Orphanet:25968 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2170/epilepsy-benign-occipital xsd:anyURI {source="GARD:0002170"} [Term] id: MONDO:0007561 name: multiple epiphyseal dysplasia type 1 def: "Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission." [Orphanet:93308] subset: gard_rare subset: ordo_disease {source="Orphanet:93308"} synonym: "COMP multiple epiphyseal dysplasia (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "EDM1" EXACT ABBREVIATION [GARD:0002180, MONDO:Lexical, OMIM:132400, Orphanet:93308] synonym: "epiphyseal dysplasia multiple 1" RELATED [GARD:0002180] synonym: "epiphyseal dysplasia, Fairbank type" RELATED [OMIM:132400] synonym: "epiphyseal dysplasia, multiple, 1" RELATED [MONDO:Lexical, OMIM:132400] synonym: "epiphyseal dysplasia, multiple, type 1" EXACT [MONDORULE:1, OMIM:132400] synonym: "epiphyseal dysplasia, ribbing type" RELATED [OMIM:132400] synonym: "MED1" EXACT ABBREVIATION [Orphanet:93308] synonym: "multiple epiphyseal dysplasia (disease) caused by mutation in COMP" EXACT [] synonym: "multiple epiphyseal dysplasia 1" RELATED [GARD:0002180] synonym: "multiple epiphyseal dysplasia COMP-related" RELATED [GARD:0002180] synonym: "multiple epiphyseal dysplasia, Comp-related" RELATED [OMIM:132400] synonym: "Polyepiphyseal dysplasia type 1" EXACT [Orphanet:93308] xref: DOID:0070303 {source="MONDO:equivalentTo"} xref: ICD10CM:Q77.3 {source="MONDO:relatedTo", source="Orphanet:93308/attributed", source="Orphanet:93308/ntbt", source="Orphanet:93308"} xref: OMIM:132400 {source="Orphanet:93308/e", source="MONDO:equivalentTo", source="GARD:0002180", source="Orphanet:93308"} xref: Orphanet:93308 {source="MONDO:equivalentTo", source="OMIM:132400"} xref: SCTID:715673002 {source="MONDO:equivalentTo"} xref: UMLS:C1838280 {source="Orphanet:93308/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="GARD:0002180", source="OMIM:132400", source="Orphanet:93308"} xref: UMLS:C4275061 {source="MONDO:equivalentTo"} is_a: MONDO:0016648 {source="DC-OMIM:132400", source="MONDO:Redundant", source="OMIM:132400", source="Orphanet:93308"} ! multiple epiphyseal dysplasia property_value: exactMatch DOID:0070303 property_value: exactMatch http://identifiers.org/snomedct/715673002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838280 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275061 property_value: exactMatch https://omim.org/entry/132400 property_value: exactMatch Orphanet:93308 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2180/multiple-epiphyseal-dysplasia-1 xsd:anyURI {source="GARD:0002180"} [Term] id: MONDO:0007562 name: multiple epiphyseal dysplasia, Beighton type def: "Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits." [Orphanet:166011] subset: ordo_disease {source="Orphanet:166011"} synonym: "EDMMD" RELATED ABBREVIATION [MESH:C565046, MONDO:Lexical, OMIM:132450] synonym: "epiphyseal dysplasia, multiple, with myopia and conductive deafness" RELATED [MONDO:Lexical, OMIM:132450] synonym: "epiphyseal dysplasia, multiple, with myopia and deafness" EXACT [OMIM:132450, OMIM:genemap2] synonym: "multiple epiphyseal dysplasia-myopia-deafness syndrome" EXACT [Orphanet:166011] xref: DOID:0111348 {source="MONDO:equivalentTo"} xref: ICD10CM:Q77.3 {source="Orphanet:166011", source="MONDO:relatedTo", source="Orphanet:166011/attributed", source="Orphanet:166011/ntbt"} xref: MESH:C565046 {source="MONDO:equivalentTo"} xref: OMIM:132450 {source="Orphanet:166011", source="MONDO:equivalentTo", source="Orphanet:166011/e", source="MEDIC:C565046"} xref: Orphanet:166011 {source="MONDO:equivalentTo", source="OMIM:132450"} xref: SCTID:719689005 {source="MONDO:equivalentTo"} is_a: MONDO:0016648 {source="Orphanet:166011"} ! multiple epiphyseal dysplasia is_a: MONDO:0022800 {source="Orphanet:166011"} ! type 2 collagenopathy property_value: exactMatch DOID:0111348 property_value: exactMatch http://identifiers.org/mesh/C565046 property_value: exactMatch http://identifiers.org/snomedct/719689005 property_value: exactMatch https://omim.org/entry/132450 property_value: exactMatch Orphanet:166011 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007565 name: familial cylindromatosis subset: ordo_clinical_subtype {source="Orphanet:211"} synonym: "'turban tumor' syndrome" RELATED [OMIM:132700] synonym: "Ancell-Spiegler Cylindromas" RELATED [OMIM:132700] synonym: "Ancell-Spiegler syndrome" EXACT [NCIT:C43352] synonym: "CYLD" RELATED ABBREVIATION [GARD:0009707] synonym: "Cylindromas, dermal eccrine" RELATED [OMIM:132700] synonym: "cylindromatosis, familial" RELATED [OMIM:132700] synonym: "turban tumor" EXACT [NCIT:C43352] synonym: "turban tumor syndrome" EXACT [Orphanet:211] synonym: "turban tumors" RELATED [GARD:0009707] synonym: "turban tumour" EXACT OMO:0003005 [] synonym: "turban tumour syndrome" EXACT OMO:0003005 [] synonym: "turban tumours" RELATED OMO:0003005 [] xref: MESH:C536611 {source="Orphanet:211/e", source="MONDO:equivalentTo", source="Orphanet:211"} xref: NCIT:C43352 {source="MONDO:equivalentTo"} xref: OMIM:132700 {source="Orphanet:211/e", source="MONDO:equivalentTo", source="Orphanet:211"} xref: Orphanet:211 {source="MONDO:equivalentTo", source="OMIM:132700"} is_a: MONDO:0011512 {source="Orphanet:211"} ! Brooke-Spiegler syndrome property_value: exactMatch http://identifiers.org/mesh/C536611 property_value: exactMatch https://omim.org/entry/132700 property_value: exactMatch NCIT:C43352 property_value: exactMatch Orphanet:211 [Term] id: MONDO:0007566 name: multiple self-healing squamous epithelioma def: "Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars." [Orphanet:65748] subset: gard_rare {source="GARD:0003090"} subset: ordo_disease {source="Orphanet:65748"} synonym: "ESS1" RELATED ABBREVIATION [OMIM:132800] synonym: "ESS1 (formerly)" RELATED [GARD:0003090] synonym: "ESS1, formerly" RELATED [OMIM:132800] synonym: "familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type" EXACT [Orphanet:65748] synonym: "Ferguson-Smith disease" EXACT [MONDO:cjm, Orphanet:65748] synonym: "Ferguson-Smith tumor" EXACT [MONDO:cjm, NCIT:C4461] synonym: "Ferguson-Smith tumour" EXACT OMO:0003005 [] synonym: "Ferguson-Smith type epithelioma" RELATED [OMIM:132800] synonym: "Ferguson-Smith-type epithelioma" RELATED [OMIM:132800] synonym: "MSSE" EXACT ABBREVIATION [MONDO:Lexical, OMIM:132800, Orphanet:65748] synonym: "multiple keratoacanthoma, Ferguson-Smith type" EXACT [Orphanet:65748] synonym: "multiple self healing epithelioma of Ferguson-Smith" EXACT [NCIT:C4461] synonym: "multiple self healing squamous epithelioma" RELATED [GARD:0003090] synonym: "multiple self-healing epithelioma of Ferguson-Smith" EXACT [DOID:5585] synonym: "multiple self-healing squamous epithelioma" EXACT [] synonym: "multiple self-healing squamous epithelioma, susceptibility to" RELATED [MONDO:Lexical, OMIM:132800] synonym: "self-healing squamous epithelioma type 1" EXACT [Orphanet:65748] xref: DOID:5585 {source="MONDO:equivalentTo"} xref: MESH:C536150 {source="MONDO:equivalentTo"} xref: NCIT:C4461 {source="DOID:5585", source="MONDO:equivalentTo"} xref: OMIM:132800 {source="MONDO:equivalentTo", source="Orphanet:65748", source="Orphanet:65748/e"} xref: Orphanet:65748 {source="MONDO:equivalentTo", source="OMIM:132800"} xref: SCTID:254659009 {source="DOID:5585", source="MONDO:equivalentTo"} xref: UMLS:C0345982 {source="DOID:5585", source="NCIT:C4461", source="MONDO:equivalentTo"} is_a: MONDO:0015356 {source="NCIT:C4461"} ! hereditary neoplastic syndrome relationship: disease_has_feature MONDO:0002527 {source="NCIT:C4461"} ! keratoacanthoma relationship: disease_has_feature MONDO:0020173 {source="Orphanet:65748"} ! benign tumor of palpebral epidermis property_value: exactMatch DOID:5585 property_value: exactMatch http://identifiers.org/mesh/C536150 property_value: exactMatch http://identifiers.org/snomedct/254659009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345982 property_value: exactMatch https://omim.org/entry/132800 property_value: exactMatch NCIT:C4461 property_value: exactMatch Orphanet:65748 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3090/multiple-self-healing-squamous-epithelioma xsd:anyURI {source="GARD:0003090"} [Term] id: MONDO:0007570 name: erythema palmare hereditarium def: "A rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient." [Orphanet:231031] subset: ordo_disease {source="Orphanet:231031"} synonym: "erythema palmare hereditarium" EXACT [OMIM:133000] synonym: "lane disease" EXACT [Orphanet:231031] synonym: "Red palms disease" EXACT [Orphanet:231031] xref: MESH:C565041 {source="MONDO:equivalentTo"} xref: OMIM:133000 {source="Orphanet:231031", source="MONDO:equivalentTo", source="Orphanet:231031/e"} xref: Orphanet:231031 {source="MONDO:equivalentTo", source="OMIM:133000"} xref: SCTID:763767006 {source="MONDO:equivalentTo"} xref: UMLS:C1851502 {source="Orphanet:231031", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:133000"} is_a: EFO:0000701 {source="Orphanet:231031", source="https://orcid.org/0000-0001-5208-3432"} ! skin disease property_value: exactMatch http://identifiers.org/mesh/C565041 property_value: exactMatch http://identifiers.org/snomedct/763767006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851502 property_value: exactMatch https://omim.org/entry/133000 property_value: exactMatch Orphanet:231031 [Term] id: MONDO:0007571 name: primary erythermalgia def: "Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder." [Orphanet:90026] comment: Editor note: consider link to MONDO:0016028 subset: ordo_disease {source="Orphanet:90026"} synonym: "erythermalgia, primary" RELATED [OMIM:133020] synonym: "erythromelalgia, familial" RELATED [OMIM:133020] synonym: "erythromelalgia, primary" RELATED [OMIM:133020] synonym: "Mitchell disease (formerly)" RELATED DEPRECATED [GARD:0006377] synonym: "neuropathy, small fiber" RELATED [OMIM:133020] synonym: "neuropathy, small fibre" RELATED OMO:0003005 [] synonym: "PERYTHM" EXACT ABBREVIATION [NCIT:C125383] synonym: "primary erythromelalgia" EXACT [NCIT:C125383] synonym: "small fiber neuropathy" RELATED [OMIM:133020, OMIM:genemap2] synonym: "small fibre neuropathy" RELATED OMO:0003005 [] xref: NCIT:C125383 {source="MONDO:equivalentTo"} xref: OMIM:133020 {source="MONDO:equivalentTo", source="Orphanet:90026", source="Orphanet:90026/e"} xref: Orphanet:90026 {source="OMIM:133020", source="MONDO:equivalentTo"} xref: SCTID:709489006 {source="MONDO:equivalentTo"} xref: UMLS:C0014805 {source="NCIT:C125383", source="OMIM:133020", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:90026"} is_a: MONDO:0016028 {source="NCIT:C125383"} ! erythromelalgia property_value: exactMatch http://identifiers.org/snomedct/709489006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014805 property_value: exactMatch https://omim.org/entry/133020 property_value: exactMatch NCIT:C125383 property_value: exactMatch Orphanet:90026 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007572 name: primary familial polycythemia due to EPO receptor mutation def: "Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels." [Orphanet:90042] comment: Editor note: check relation to familial polycythemia subset: gard_rare {source="GARD:0009843"} subset: ordo_disease {source="Orphanet:90042"} synonym: "autosomal dominant benign erythrocytosis" RELATED [DOID:0060652] synonym: "congenital erythrocytosis due to erythropoietin receptor mutation" EXACT [Orphanet:90042] synonym: "congenital polycythemia due to erythropoietin receptor mutation" EXACT [Orphanet:90042] synonym: "ECYT1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:133100] synonym: "EPOR familial polycythemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "erythrocytosis autosomal dominant benign" RELATED [GARD:0009843] synonym: "erythrocytosis, autosomal dominant benign" RELATED [OMIM:133100] synonym: "erythrocytosis, familial, 1" EXACT [GARD:0009843, MONDO:Lexical, OMIM:133100, OMIM:genemap2] synonym: "erythrocytosis, familial, type 1" EXACT [MONDORULE:1, OMIM:133100] synonym: "erythrocytosis, somatic" EXACT [OMIM:133100, OMIM:genemap2] synonym: "familial erythrocytosis" EXACT [Orphanet:90042] synonym: "familial erythrocytosis 1" EXACT [DOID:0060652] synonym: "familial erythrocytosis type 1" EXACT [DOID:0060652, MONDORULE:1] synonym: "familial erythrocytosis, 1" EXACT [GARD:0009843] synonym: "familial polycythemia caused by mutation in EPOR" EXACT [MONDO:design_pattern] synonym: "PFCP" EXACT ABBREVIATION [Orphanet:90042] synonym: "polycythemia, primary familial and congenital" RELATED [OMIM:133100] synonym: "primary congenital erythrocytosis" EXACT [Orphanet:90042] synonym: "primary familial and congenital polycythemia" EXACT [DOID:0060652, Orphanet:90042] synonym: "primary familial polycythemia" RELATED [Orphanet:90042] xref: DOID:0060652 {source="MONDO:equivalentTo"} xref: ICD9:289.6 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: OMIM:133100 {source="Orphanet:90042", source="DOID:0060652", source="MONDO:equivalentTo", source="Orphanet:90042/e"} xref: Orphanet:90042 {source="DOID:0060652", source="MONDO:equivalentTo", source="OMIM:133100"} xref: SCTID:17342003 {source="MONDO:equivalentTo"} is_a: MONDO:0001115 {source="DC-OMIM:133100", source="DOID:0060652", source="MONDO:Redundant", source="OMIM:133100"} ! familial polycythemia property_value: exactMatch DOID:0060652 property_value: exactMatch http://identifiers.org/snomedct/17342003 property_value: exactMatch https://omim.org/entry/133100 property_value: exactMatch Orphanet:90042 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9843/familial-erythrocytosis-1 xsd:anyURI {source="GARD:0009843"} [Term] id: MONDO:0007574 name: spinocerebellar ataxia type 34 def: "A subtype of autosomal dominant cerebellar ataxia type I (ADCA type I), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." [Orphanet:1955] subset: gard_rare subset: ordo_disease {source="Orphanet:1955"} synonym: "erythrokeratodermia - ataxia" RELATED [GARD:0000059] synonym: "erythrokeratodermia with ataxia" EXACT [GARD:0000059, OMIM:133190, Orphanet:1955] synonym: "Giroux Barbeau syndrome" RELATED [GARD:0000059] synonym: "SCA34" EXACT ABBREVIATION [GARD:0000059, MONDO:Lexical, OMIM:133190, Orphanet:1955] synonym: "spinocerebellar ataxia 34" RELATED [MONDO:Lexical, OMIM:133190] synonym: "spinocerebellar ataxia and erythrokeratodermia" EXACT [Orphanet:1955] synonym: "spinocerebellar ataxia type 34" EXACT [MONDORULE:2, OMIM:133190] xref: DOID:0050981 {source="MONDO:equivalentTo"} xref: MESH:C535738 {source="Orphanet:1955/e", source="MONDO:equivalentTo", source="Orphanet:1955"} xref: OMIM:133190 {source="Orphanet:1955/e", source="DOID:0050981", source="GARD:0000059", source="MONDO:equivalentTo", source="Orphanet:1955"} xref: Orphanet:1955 {source="GARD:0000059", source="MONDO:equivalentTo", source="OMIM:133190"} xref: SCTID:719255000 {source="MONDO:equivalentTo"} xref: UMLS:C1851481 {source="Orphanet:1955/e", source="GARD:0000059", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1955", source="OMIM:133190"} is_a: MONDO:0019270 {source="Orphanet:1955"} ! erythrokeratoderma is_a: MONDO:0019792 {source="Orphanet:1955"} ! autosomal dominant cerebellar ataxia type I is_a: MONDO:0100118 ! hereditary skin disorder property_value: exactMatch DOID:0050981 property_value: exactMatch http://identifiers.org/mesh/C535738 property_value: exactMatch http://identifiers.org/snomedct/719255000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851481 property_value: exactMatch https://omim.org/entry/133190 property_value: exactMatch Orphanet:1955 [Term] id: MONDO:0007576 name: esophageal cancer def: "A primary or metastatic malignant neoplasm involving the esophagus." [NCIT:C7478] synonym: "Aerodigestive tract cancer, susceptibility to" RELATED [OMIM:133239] synonym: "Ca lower third esophagus" NARROW [DOID:5041] synonym: "Ca lower third oesophagus" NARROW OMO:0003005 [] synonym: "Ca middle third esophagus" NARROW [DOID:5041] synonym: "Ca middle third oesophagus" NARROW OMO:0003005 [] synonym: "cancer of esophagus" EXACT [MONDO:patterns/cancer] synonym: "cancer of oesophagus" EXACT OMO:0003005 [] synonym: "Escc, susceptibility to" RELATED [OMIM:133239] synonym: "esophageal cancer" EXACT [OMIM:133239] synonym: "esophageal cancer, somatic" EXACT [OMIM:133239, OMIM:genemap2] synonym: "esophageal carcinoma, somatic" EXACT [OMIM:133239, OMIM:genemap2] synonym: "esophageal squamous cell carcinoma, somatic" EXACT [OMIM:133239, OMIM:genemap2] synonym: "esophageal squamous cell carcinoma, susceptibility to" RELATED [OMIM:133239] synonym: "esophagus cancer" EXACT [DOID:5041, MONDO:patterns/location] synonym: "gastric cardia adenocarcinoma, susceptibility to" RELATED [OMIM:133239] synonym: "malignant esophageal neoplasm" EXACT [NCIT:C7478] synonym: "malignant esophageal tumor" EXACT [NCIT:C7478] synonym: "malignant esophageal tumour" EXACT OMO:0003005 [] synonym: "malignant esophagus neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant esophagus tumor" EXACT [NCIT:C7478] synonym: "malignant neoplasm of distal third of esophagus" NARROW [DOID:5041] synonym: "malignant neoplasm of distal third of oesophagus" NARROW OMO:0003005 [] synonym: "malignant neoplasm of esophagus" EXACT [MONDO:patterns/cancer, NCIT:C7478] synonym: "malignant neoplasm of lower third of esophagus" NARROW [DOID:5041] synonym: "malignant neoplasm of lower third of oesophagus" NARROW OMO:0003005 [] synonym: "malignant neoplasm of middle third of esophagus" NARROW [DOID:5041] synonym: "malignant neoplasm of middle third of oesophagus" NARROW OMO:0003005 [] synonym: "malignant neoplasm of oesophagus" EXACT OMO:0003005 [] synonym: "malignant neoplasm of proximal third of esophagus" NARROW [DOID:5041] synonym: "malignant neoplasm of proximal third of oesophagus" NARROW OMO:0003005 [] synonym: "malignant neoplasm of the esophagus" EXACT [NCIT:C7478] synonym: "malignant neoplasm of the oesophagus" EXACT OMO:0003005 [] synonym: "malignant neoplasm of upper third esophagus" NARROW [DOID:5041] synonym: "malignant neoplasm of upper third oesophagus" NARROW OMO:0003005 [] synonym: "malignant oesophagus neoplasm" EXACT OMO:0003005 [] synonym: "malignant oesophagus tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of abdominal esophagus" NARROW [DOID:5041, NCIT:C4764] synonym: "malignant tumor of distal third of esophagus" NARROW [DOID:5041, NCIT:C3535] synonym: "malignant tumor of esophagus" EXACT [NCIT:C7478] synonym: "malignant tumor of proximal third of esophagus" NARROW [DOID:5041, NCIT:C3533] synonym: "malignant tumor of the esophagus" EXACT [NCIT:C7478] synonym: "malignant tumor of the middle third of the esophagus" NARROW [DOID:5041, NCIT:C3534] synonym: "malignant tumour of abdominal oesophagus" NARROW OMO:0003005 [] synonym: "malignant tumour of distal third of oesophagus" NARROW OMO:0003005 [] synonym: "malignant tumour of oesophagus" EXACT OMO:0003005 [] synonym: "malignant tumour of proximal third of oesophagus" NARROW OMO:0003005 [] synonym: "malignant tumour of the middle third of the oesophagus" NARROW OMO:0003005 [] synonym: "malignant tumour of the oesophagus" EXACT OMO:0003005 [] synonym: "oesophagus cancer" EXACT OMO:0003005 [] xref: DOID:5041 {source="MONDO:equivalentTo"} xref: ICD9:150.2 {source="MONDO:relatedTo", source="DOID:5041"} xref: ICD9:150.3 {source="DOID:5041"} xref: ICD9:150.4 {source="DOID:5041"} xref: ICD9:150.5 {source="DOID:5041"} xref: ICD9:150.8 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:5041"} xref: ICD9:150.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C4764 {source="MONDO:relatedTo", source="DOID:5041"} xref: NCIT:C7478 {source="MONDO:equivalentTo"} xref: OMIM:133239 {source="MONDO:equivalentTo", source="DOID:5041"} xref: SCTID:187724003 {source="MONDO:relatedTo", source="DOID:5041"} xref: SCTID:363402007 {source="MONDO:equivalentTo"} xref: UMLS:C0496775 {source="MONDO:relatedTo", source="DOID:5041"} xref: UMLS:C0546837 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C7478"} is_a: MONDO:0002516 {source="DOID:5041", source="MONDO:Redundant", source="NCIT:C7478"} ! digestive system cancer is_a: MONDO:0003274 ! thoracic cancer is_a: MONDO:0021355 {source="MONDO:Redundant", source="NCIT:C7478"} ! neoplasm of esophagus property_value: exactMatch DOID:5041 property_value: exactMatch http://identifiers.org/snomedct/363402007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0546837 property_value: exactMatch https://omim.org/entry/133239 property_value: exactMatch NCIT:C7478 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007584 name: exostoses-anetodermia-brachydactyly type E syndrome def: "Exostoses-anetodermia-brachydactyly type E syndrome is an association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985." [Orphanet:1962] subset: ordo_malformation_syndrome {source="Orphanet:1962"} synonym: "exostoses with anetodermia and brachydactyly, type E" RELATED [OMIM:133690] xref: MESH:C565034 {source="MONDO:equivalentTo"} xref: OMIM:133690 {source="MONDO:equivalentTo", source="Orphanet:1962", source="Orphanet:1962/e"} xref: Orphanet:1962 {source="OMIM:133690", source="MONDO:equivalentTo"} xref: UMLS:C1851428 {source="OMIM:133690", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1962"} is_a: EFO:0000508 {source="OMIM:133690"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C565034 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851428 property_value: exactMatch https://omim.org/entry/133690 property_value: exactMatch Orphanet:1962 property_value: excluded_subClassOf MONDO:0019708 {source="Orphanet:1962"} [Term] id: MONDO:0007585 name: exostoses, multiple, type 1 def: "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0002204"} synonym: "diaphyseal Aclasis" RELATED [OMIM:133700] synonym: "exostoses, multiple caused by mutation in EXT1" EXACT [MONDO:design_pattern] synonym: "exostoses, multiple, type 1" EXACT [] synonym: "exostoses, multiple, type I" RELATED [OMIM:133700] synonym: "EXT" RELATED ABBREVIATION [OMIM:133700] synonym: "EXT1 exostoses, multiple" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "multiple cartilaginous exostoses" RELATED [OMIM:133700] synonym: "multiple osteochondromas" RELATED [OMIM:133700] synonym: "osteochondromatosis" RELATED [OMIM:133700] xref: OMIM:133700 {source="MONDO:equivalentTo"} is_a: MONDO:0005508 {source="DC-OMIM:133700", source="MONDO:Redundant", source="OMIM:133700"} ! hereditary multiple osteochondromas is_a: MONDO:0800089 {source="PMID:31633310"} ! primary bone dysplasia with disorganized development of skeletal components property_value: exactMatch https://omim.org/entry/133700 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2204/exostoses-multiple-type-1 xsd:anyURI {source="GARD:0002204"} [Term] id: MONDO:0007586 name: exostoses, multiple, type 2 def: "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes." [NCIT:C18252] subset: gard_rare {source="GARD:0002205"} synonym: "exostoses (Multiple) 2 Gene" EXACT [NCIT:C18252] synonym: "exostoses, multiple caused by mutation in EXT2" EXACT [MONDO:design_pattern] synonym: "exostoses, multiple, type 2" EXACT [] synonym: "exostoses, multiple, type II" RELATED [OMIM:133701] synonym: "Ext2" RELATED [OMIM:133701] synonym: "EXT2 exostoses, multiple" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "EXT2 Gene" EXACT [NCIT:C18252] xref: NCIT:C18252 {source="MONDO:equivalentTo"} xref: OMIM:133701 {source="MONDO:equivalentTo"} xref: UMLS:C1851413 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:133701"} is_a: MONDO:0005508 {source="DC-OMIM:133701", source="MONDO:Redundant"} ! hereditary multiple osteochondromas property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851413 property_value: exactMatch https://omim.org/entry/133701 property_value: exactMatch NCIT:C18252 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2205/exostoses-multiple-type-2 xsd:anyURI {source="GARD:0002205"} [Term] id: MONDO:0007590 name: hemifacial hypertrophy def: "Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties." [Orphanet:141145] subset: ordo_malformation_syndrome {source="Orphanet:141145"} synonym: "facial asymmetry" RELATED [OMIM:133900] synonym: "facial hemihypertrophy" RELATED [OMIM:133900] synonym: "hemifacial hyperplasia" RELATED [OMIM:133900] synonym: "hemifacial hypertrophy" EXACT [OMIM:133900] xref: OMIM:133900 {source="MONDO:equivalentTo", source="Orphanet:141145", source="Orphanet:141145/e"} xref: Orphanet:141145 {source="MONDO:equivalentTo", source="OMIM:133900"} xref: UMLS:C1399354 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:141145", source="OMIM:133900"} is_a: MONDO:0019716 {source="Orphanet:141145"} ! overgrowth syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1399354 property_value: exactMatch https://omim.org/entry/133900 property_value: exactMatch Orphanet:141145 [Term] id: MONDO:0007592 name: familial recurrent peripheral facial palsy subset: ordo_disease {source="Orphanet:2809"} synonym: "facial palsy, familial recurrent peripheral" RELATED [OMIM:134200] synonym: "familial recurrent Bell palsy" EXACT [Orphanet:2809] xref: ICD10CM:G51.0 {source="Orphanet:2809", source="MONDO:relatedTo", source="Orphanet:2809/attributed", source="Orphanet:2809/ntbt"} xref: MESH:C565028 {source="MONDO:equivalentTo"} xref: OMIM:134200 {source="Orphanet:2809", source="MONDO:equivalentTo", source="Orphanet:2809/e"} xref: Orphanet:2809 {source="MONDO:equivalentTo", source="OMIM:134200"} xref: UMLS:C1851399 {source="Orphanet:2809", source="MONDO:equivalentTo", source="OMIM:134200", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0020127 {source="Orphanet:2809"} ! hereditary peripheral neuropathy property_value: exactMatch http://identifiers.org/mesh/C565028 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851399 property_value: exactMatch https://omim.org/entry/134200 property_value: exactMatch Orphanet:2809 [Term] id: MONDO:0007600 name: primary Fanconi syndrome def: "A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones." [https://rarediseases.info.nih.gov/diseases/9118/primary-fanconi-syndrome] subset: gard_rare {source="GARD:0009118"} subset: ordo_disease {source="Orphanet:3337"} synonym: "Fanconi renotubular syndrome 1" NARROW [MONDO:Lexical, OMIM:134600] synonym: "FRTS1" NARROW ABBREVIATION [MONDO:Lexical, OMIM:134600] synonym: "primary Fanconi renotubular syndrome" NARROW [Orphanet:3337] xref: NCIT:C123229 {source="MONDO:equivalentTo"} is_a: MONDO:0100238 {source="DC-OMIM:134600", source="OMIM:134600"} ! inherited Fanconi renotubular syndrome property_value: exactMatch NCIT:C123229 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3113 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9118/primary-fanconi-syndrome xsd:anyURI {source="GARD:0009118"} [Term] id: MONDO:0007604 name: femoral-facial syndrome def: "Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." [Orphanet:1988] subset: gard_rare {source="GARD:0000061"} subset: ordo_malformation_syndrome {source="Orphanet:1988"} synonym: "femoral dysgenesis, bilateral" RELATED [GARD:0000061] synonym: "femoral facial syndrome" RELATED [GARD:0000061] synonym: "femoral hypoplasia unusual facies syndrome" RELATED [GARD:0000061] synonym: "femoral hypoplasia-unusual facies syndrome" EXACT [OMIM:134780, Orphanet:1988] synonym: "femoral-facial syndrome" EXACT [MONDO:Lexical, OMIM:134780] synonym: "FFS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:134780, Orphanet:1988] synonym: "FHUFS" EXACT ABBREVIATION [Orphanet:1988] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537916 {source="Orphanet:1988/e", source="MONDO:equivalentTo", source="Orphanet:1988"} xref: OMIM:134780 {source="Orphanet:1988/e", source="MONDO:equivalentTo", source="Orphanet:1988"} xref: Orphanet:1988 {source="OMIM:134780", source="MONDO:equivalentTo"} xref: SCTID:13280000 {source="MONDO:equivalentTo"} is_a: MONDO:0015161 {source="Orphanet:1988"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect property_value: exactMatch http://identifiers.org/mesh/C537916 property_value: exactMatch http://identifiers.org/snomedct/13280000 property_value: exactMatch https://omim.org/entry/134780 property_value: exactMatch Orphanet:1988 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/61/femoral-facial-syndrome xsd:anyURI {source="GARD:0000061"} [Term] id: MONDO:0007606 name: fibrodysplasia ossificans progressiva def: "Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites." [Orphanet:337] subset: ordo_disease {source="Orphanet:337"} synonym: "fibrodysplasia ossificans progressiva" EXACT [MONDO:Lexical, OMIM:135100] synonym: "fop" EXACT [MONDO:Lexical, OMIM:135100, Orphanet:337] synonym: "myositis ossificans progressiva" RELATED [DOID:13374, Orphanet:337] synonym: "progressive myositis ossificans" EXACT [DOID:13374, ICD9CM:728.11] synonym: "progressive ossifying myositis" EXACT [DOID:13374] synonym: "Stone Man syndrome" EXACT [DOID:13374] synonym: "Stone man syndrome" EXACT [Orphanet:337] xref: DOID:13374 {source="MONDO:equivalentTo"} xref: ICD9:728.11 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13374"} xref: MedDRA:10068715 {source="Orphanet:337", source="Orphanet:337/e"} xref: MESH:D009221 {source="Orphanet:337", source="MONDO:relatedTo", source="DOID:13374", source="Orphanet:337/e"} xref: NCIT:C3040 {source="MONDO:equivalentTo", source="DOID:13374"} xref: OMIM:135100 {source="Orphanet:337", source="MONDO:equivalentTo", source="DOID:13374", source="Orphanet:337/e"} xref: Orphanet:337 {source="OMIM:135100", source="MONDO:equivalentTo"} xref: SCTID:82725007 {source="MONDO:equivalentTo", source="DOID:13374"} xref: UMLS:C0016037 {source="NCIT:C3040", source="Orphanet:337", source="OMIM:135100", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:13374", source="Orphanet:337/e"} is_a: MONDO:0019296 {source="Orphanet:337"} ! subcutaneous tissue disorder is_a: MONDO:0800089 {source="PMID:31633310"} ! primary bone dysplasia with disorganized development of skeletal components property_value: closeMatch http://identifiers.org/meddra/10068715 property_value: exactMatch DOID:13374 property_value: exactMatch http://identifiers.org/snomedct/82725007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016037 property_value: exactMatch https://omim.org/entry/135100 property_value: exactMatch NCIT:C3040 property_value: exactMatch Orphanet:337 property_value: excluded_subClassOf MONDO:0018231 {source="Orphanet:337"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0007607 name: Birt-Hogg-Dube syndrome def: "Birt-Hogg-Dube (BHD) syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. It is a rare clinicopathologic condition named after the three Canadian physicians who reported the syndrome in 1977." [Orphanet:122] comment: This will be obsoleted in the 2023-10-01 release. The term will be split and the new ID for this term will be MONDO:0800444 (Birt-Hogg-Dube syndrome), and MONDO:0800445 (Birt-Hogg-Dube syndrome 1). subset: obsoletion_candidate subset: ordo_malformation_syndrome {source="Orphanet:122"} synonym: "BHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:135150] synonym: "BHD syndrome" RELATED [GARD:0002322] synonym: "Birt Hogg Dube syndrome" RELATED [GARD:0002322] synonym: "Birt-Hogg-Dube syndrome" EXACT [MONDO:Lexical, NCIT:C28244, OMIM:135150] synonym: "Birt-Hogg-Dubé syndrome" RELATED [Orphanet:122] synonym: "fibrofolliculomas with trichodiscomas and acrochordons" EXACT [OMIM:135150, Orphanet:122] synonym: "Hornstein-Knickenberg syndrome" RELATED [OMIM:135150] xref: DOID:0050676 {source="MONDO:equivalentTo"} xref: EFO:1001273 {source="MONDO:equivalentTo"} xref: ICD9:704.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10067736 {source="Orphanet:122/e", source="Orphanet:122"} xref: MESH:D058249 {source="Orphanet:122/e", source="MONDO:equivalentTo", source="Orphanet:122"} xref: NCIT:C28244 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: OMIM:135150 {source="Orphanet:122/e", source="DOID:0050676", source="MONDO:equivalentTo", source="Orphanet:122"} xref: Orphanet:122 {source="OMIM:135150", source="MONDO:equivalentTo"} xref: SCTID:110985001 {source="MONDO:equivalentTo"} xref: UMLS:C0346010 {source="OMIM:135150", source="Orphanet:122/e", source="NCIT:C28244", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:122"} is_a: EFO:0003865 ! kidney neoplasm is_a: MONDO:0000426 {source="DOID:0050676", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0015950 {source="Orphanet:122"} ! inherited skin tumor is_a: MONDO:0017891 {source="Orphanet:122"} ! inherited renal cancer-predisposing syndrome property_value: closeMatch http://identifiers.org/meddra/10067736 property_value: exactMatch DOID:0050676 property_value: exactMatch http://identifiers.org/mesh/D058249 property_value: exactMatch http://identifiers.org/snomedct/110985001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346010 property_value: exactMatch https://omim.org/entry/135150 property_value: exactMatch NCIT:C28244 property_value: exactMatch Orphanet:122 property_value: excluded_subClassOf MONDO:0019300 {source="Orphanet:122"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6518 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0007610 name: gingival fibromatosis-hypertrichosis syndrome def: "Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback." [Orphanet:2026] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2026"} synonym: "CGHT" EXACT ABBREVIATION [Orphanet:2026] synonym: "chromosome 17Q24.2-q24.3 deletion syndrome" RELATED [OMIM:135400] synonym: "chromosome 17Q24.2-q24.3 Duplication syndrome" RELATED [OMIM:135400] synonym: "congenital generalised hypertrichosis terminalis" EXACT OMO:0003005 [] synonym: "congenital generalized hypertrichosis terminalis" EXACT [Orphanet:2026] synonym: "extreme hirsutism with gingival fibromatosis" RELATED [GARD:0002324] synonym: "fibromatosis, gingival, with hypertrichosis" RELATED [OMIM:135400] synonym: "gingival fibromatosis with hypertrichosis" RELATED [GARD:0002324] synonym: "hereditary gingival fibromatosis with hypertrichosis" RELATED [GARD:0002324] synonym: "hirsutism-congenital gingival hyperplasia syndrome" EXACT [Orphanet:2026] synonym: "HTC3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:135400] synonym: "hypertrichosis terminalis, generalized, with gingival hyperplasia" RELATED [GARD:0002324] synonym: "hypertrichosis terminalis, generalized, with or without gingival hyperplasia" RELATED [OMIM:135400] synonym: "hypertrichosis with or without gingival hyperplasia" EXACT [Orphanet:2026] synonym: "hypertrichosis, congenital generalized, with gingival hyperplasia" EXACT [OMIM:135400, OMIM:genemap2] synonym: "hypertrichosis, congenital generalized, with or without gingival hyperplasia" RELATED [MONDO:Lexical, OMIM:135400] synonym: "microdeletion 17Q24.2-q24.3 syndrome" RELATED [OMIM:135400] synonym: "microduplication 17Q24.2-q24.3 syndrome" RELATED [OMIM:135400] xref: MESH:C565016 {source="MONDO:equivalentTo"} xref: OMIM:135400 {source="GARD:0002324", source="Orphanet:2026", source="MONDO:equivalentTo", source="Orphanet:2026/e"} xref: Orphanet:2026 {source="GARD:0002324", source="MONDO:equivalentTo", source="OMIM:135400"} xref: SCTID:716008002 {source="MONDO:equivalentTo"} is_a: MONDO:0019280 {source="DC-OMIM:135400", source="MESH:C565016", source="Orphanet:2026"} ! hypertrichosis is_a: MONDO:0019287 {source="Orphanet:2026"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C565016 property_value: exactMatch http://identifiers.org/snomedct/716008002 property_value: exactMatch https://omim.org/entry/135400 property_value: exactMatch Orphanet:2026 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2324/gingival-fibromatosis-with-hypertrichosis xsd:anyURI {source="GARD:0002324"} [Term] id: MONDO:0007612 name: gingival fibromatosis-progressive deafness syndrome def: "Gingival fibromatosis-progressive deafness syndrome is characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait." [Orphanet:2027] subset: ordo_malformation_syndrome {source="Orphanet:2027"} synonym: "familial gingival fibromatosis associated with progressive deafness" RELATED [GARD:0003056] synonym: "fibromatosis, gingival, with progressive deafness" RELATED [OMIM:135550] synonym: "GFD" RELATED ABBREVIATION [GARD:0003056] synonym: "gingival fibromatosis with progressive deafness" RELATED [GARD:0003056] synonym: "gingival fibromatosis with sensorineural hearing loss" RELATED [OMIM:135550] synonym: "Jones syndrome" EXACT [OMIM:135550, Orphanet:2027] xref: MESH:C535886 {source="MONDO:equivalentTo"} xref: OMIM:135550 {source="Orphanet:2027", source="MONDO:equivalentTo", source="Orphanet:2027/e"} xref: Orphanet:2027 {source="OMIM:135550", source="MONDO:equivalentTo"} xref: SCTID:722449007 {source="MONDO:equivalentTo"} xref: UMLS:C1851112 {source="Orphanet:2027", source="OMIM:135550", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2027/e"} is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:2027", source="Orphanet:2027/inferred"} ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C535886 property_value: exactMatch http://identifiers.org/snomedct/722449007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851112 property_value: exactMatch https://omim.org/entry/135550 property_value: exactMatch Orphanet:2027 [Term] id: MONDO:0007614 name: congenital fibrosis of extraocular muscles subset: ordo_disease {source="Orphanet:45358"} subset: prototype_pattern synonym: "blepharoptosis with absent eye movements" RELATED [OMIM:135700] synonym: "CFEOM1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:135700] synonym: "congenital fibrosis of the extraocular muscles" EXACT [MONDO:0000869] synonym: "FEOM" EXACT ABBREVIATION [Orphanet:45358] synonym: "Feom1 locus" RELATED [OMIM:135700] synonym: "fibrosis of extraocular muscles, congenital" EXACT [OMIMPS:135700] synonym: "fibrosis of extraocular muscles, congenital, 1" RELATED [MONDO:Lexical, OMIM:135700] synonym: "fibrosis of extraocular muscles, congenital, 3B" RELATED [OMIM:135700] synonym: "fibrosis of extraocular muscles, congenital, type 1" EXACT [MONDORULE:1, OMIM:135700] synonym: "ophthalmoplegia, congenital" RELATED [OMIM:135700] synonym: "Tukel syndrome" NARROW [DOID:0080143] xref: DOID:0080143 {source="MONDO:equivalentTo"} xref: ICD9:728.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIMPS:135700 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:45358 {source="MONDO:equivalentTo", source="OMIM:135700"} xref: SCTID:400946004 {source="MONDO:equivalentTo"} xref: UMLS:C1302995 {source="Orphanet:45358", source="MONDO:equivalentTo"} xref: UMLS:CN043677 {source="MONDO:equivalentTo"} is_a: EFO:1001990 {source="DOID:0080143"} ! ocular motility disease is_a: MONDO:0004746 ! myopathy of extraocular muscle is_a: MONDO:0016106 {source="Orphanet:45358"} ! progressive muscular dystrophy is_a: MONDO:0020158 {source="MONDO:0020169-obsoleted"} ! eyelids malposition disorder is_a: MONDO:0957003 ! hereditary neuro-ophthalmological disease property_value: exactMatch DOID:0080143 property_value: exactMatch http://identifiers.org/snomedct/400946004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1302995 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN043677 property_value: exactMatch https://omim.org/phenotypicSeries/PS135700 property_value: exactMatch Orphanet:45358 [Term] id: MONDO:0007615 name: laurin-Sandrow syndrome def: "Laurin-Sandrow syndrome (LSS) is characterized by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested." [Orphanet:2378] subset: gard_rare {source="GARD:0000155"} subset: ordo_malformation_syndrome {source="Orphanet:2378"} synonym: "fibula and ulna, Duplication of, with absence of tibia and radius" RELATED [OMIM:135750] synonym: "fibula ulna duplication tibia radius absence" RELATED [GARD:0000155] synonym: "laurin Sandrow syndrome" RELATED [GARD:0000155] synonym: "laurin-Sandrow syndrome" EXACT [MONDO:Lexical, OMIM:135750] synonym: "laurin-Sandrow syndrome, segmental" RELATED [OMIM:135750] synonym: "LSS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:135750] synonym: "mirror hands and feet with nasal defects" RELATED [OMIM:135750] synonym: "mirror hands and feets-nasal defects syndrome" EXACT [Orphanet:2378] synonym: "mirror-Image polydactyly" RELATED [OMIM:135750] synonym: "Sandrow syndrome" EXACT [OMIM:135750, Orphanet:2378] synonym: "tetramelic mirror-Image polydactyly" RELATED [OMIM:135750] xref: DOID:0111350 {source="MONDO:equivalentTo"} xref: MESH:C535689 {source="Orphanet:2378", source="MONDO:equivalentTo", source="Orphanet:2378/e"} xref: OMIM:135750 {source="Orphanet:2378", source="MONDO:equivalentTo", source="Orphanet:2378/e"} xref: Orphanet:2378 {source="MONDO:equivalentTo", source="OMIM:135750"} xref: SCTID:715440003 {source="MONDO:equivalentTo"} is_a: MONDO:0019054 {source="Orphanet:2378"} ! congenital limb malformation is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism property_value: exactMatch DOID:0111350 property_value: exactMatch http://identifiers.org/mesh/C535689 property_value: exactMatch http://identifiers.org/snomedct/715440003 property_value: exactMatch https://omim.org/entry/135750 property_value: exactMatch Orphanet:2378 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/155/laurin-sandrow-syndrome xsd:anyURI {source="GARD:0000155"} [Term] id: MONDO:0007619 name: isolated congenital adermatoglyphia def: "Isolated congenital adermatoglyphia is a rare, genetic develomental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles." [Orphanet:289465] subset: ordo_disease {source="Orphanet:289465"} synonym: "absence of fingerprints" BROAD [DOID:0111357, GARD:0012550] synonym: "ADERM" EXACT ABBREVIATION [DOID:0111357, MONDO:Lexical, OMIM:136000] synonym: "adermatoglyphia" BROAD [DOID:0111357, MONDO:Lexical, OMIM:136000, OMIM:genemap2] synonym: "ADG" BROAD ABBREVIATION [DOID:0111357, GARD:0012550] synonym: "congenital absence of fingerprints" EXACT [DOID:0111357, Orphanet:289465] synonym: "fingerprints, absence of" BROAD [OMIM:136000] synonym: "immigration delay disease" EXACT [DOID:0111357, Orphanet:289465] synonym: "isolated congenital adermatoglyphia" EXACT [DOID:0111357] xref: DOID:0111357 {source="MONDO:equivalentTo"} xref: MESH:C565010 {source="MONDO:equivalentTo"} xref: OMIM:136000 {source="Orphanet:289465", source="MONDO:equivalentTo", source="Orphanet:289465/e", source="DOID:0111357"} xref: Orphanet:289465 {source="OMIM:136000", source="MONDO:equivalentTo", source="DOID:0111357"} xref: SCTID:763748007 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 {source="DOID:0111357"} ! autosomal dominant disease is_a: MONDO:0100118 ! hereditary skin disorder property_value: exactMatch DOID:0111357 property_value: exactMatch http://identifiers.org/mesh/C565010 property_value: exactMatch http://identifiers.org/snomedct/763748007 property_value: exactMatch https://omim.org/entry/136000 property_value: exactMatch Orphanet:289465 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007620 name: fish eye disease def: "Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency." [Orphanet:79292] subset: gard_rare {source="GARD:0006450"} subset: ordo_clinical_subtype {source="Orphanet:79292"} synonym: "alpha-LCAT deficiency" RELATED [OMIM:136120] synonym: "alpha-lecithin cholesterol acyltransferase deficiency" RELATED [GARD:0006450] synonym: "alpha-lecithin:cholesterol acyltransferase deficiency" RELATED [OMIM:136120] synonym: "dyslipoproteinemic corneal dystrophy" RELATED [OMIM:136120] synonym: "fed" EXACT [MONDO:Lexical, OMIM:136120, Orphanet:79292] synonym: "fish eye disease" EXACT [MONDO:Lexical, OMIM:136120] synonym: "fish-eye disease" RELATED [OMIM:136120] synonym: "LCATA deficiency" RELATED [OMIM:136120] synonym: "partial LCAT deficiency" EXACT [Orphanet:79292] xref: OMIM:136120 {source="Orphanet:79292", source="MONDO:equivalentTo", source="Orphanet:79292/e"} xref: Orphanet:79292 {source="OMIM:136120", source="MONDO:equivalentTo"} xref: SCTID:238092004 {source="MONDO:equivalentTo"} xref: UMLS:C0342895 {source="OMIM:136120", source="Orphanet:79292", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:79292/e"} is_a: MONDO:0018999 {source="Orphanet:79292", source="https://orcid.org/0000-0001-5208-3432"} ! LCAT deficiency property_value: exactMatch http://identifiers.org/snomedct/238092004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342895 property_value: exactMatch https://omim.org/entry/136120 property_value: exactMatch Orphanet:79292 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6450/fish-eye-disease xsd:anyURI {source="GARD:0006450"} [Term] id: MONDO:0007621 name: Floating-Harbor syndrome def: "Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay." [Orphanet:2044] subset: gard_rare {source="GARD:0006455"} subset: ordo_malformation_syndrome {source="Orphanet:2044"} synonym: "FHS" RELATED ABBREVIATION [GARD:0006455] synonym: "FLHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:136140] synonym: "floating-HARBOR syndrome" RELATED [OMIM:136140] synonym: "floating-Harbor syndrome" EXACT [MONDO:Lexical, OMIM:136140] synonym: "Pelletier-Leisti syndrome" RELATED [GARD:0006455] synonym: "short stature with delayed bone age, expressive language delay, a triangular face with a prominent nose and deep-set eyes" RELATED [GARD:0006455] xref: DOID:0111358 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537062 {source="Orphanet:2044", source="MONDO:equivalentTo", source="Orphanet:2044/e"} xref: NCIT:C175241 {source="MONDO:equivalentTo"} xref: OMIM:136140 {source="Orphanet:2044", source="MONDO:equivalentTo", source="Orphanet:2044/e"} xref: Orphanet:2044 {source="OMIM:136140", source="MONDO:equivalentTo"} xref: SCTID:312214005 {source="MONDO:equivalentTo"} xref: UMLS:C0729582 {source="OMIM:136140", source="Orphanet:2044", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2044/e"} is_a: MONDO:0015159 {source="Orphanet:2044"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch DOID:0111358 property_value: exactMatch http://identifiers.org/mesh/C537062 property_value: exactMatch http://identifiers.org/snomedct/312214005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0729582 property_value: exactMatch https://omim.org/entry/136140 property_value: exactMatch NCIT:C175241 property_value: exactMatch Orphanet:2044 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2044"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6455/floating-harbor-syndrome xsd:anyURI {source="GARD:0006455"} [Term] id: MONDO:0007624 name: Flynn-Aird syndrome def: "Flynn-Aird syndrome is a neuroectodermal disorder involving the nervous, cutaneous, skeletal, and glandular systems. It has been described in 10 members from five generations of one family. Clinical manifestations include eye abnormalities (cataracts, retinitis pigmentosa, and myopia), sensorineural deafness, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy and striking dental caries. Patients also present with muscle wasting, joint stiffness and bone cysts. Flynn-Aird syndrome is transmitted as an autosomal dominant trait. It shows some similarities to the syndromes of Werner, Refsum and Cockayne." [https://rarediseases.info.nih.gov/diseases/2347/flynn-aird-syndrome] subset: gard_rare {source="GARD:0002347"} subset: ordo_disease {source="Orphanet:2047"} synonym: "cataracts, retinitis pigmentosa, sensorineural hearing loss, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy, chronic ulceration, dental" RELATED [GARD:0002347] synonym: "Flynn Aird syndrome" RELATED [GARD:0002347] synonym: "Flynn-Aird syndrome" EXACT [OMIM:136300] xref: MESH:C537066 {source="Orphanet:2047", source="MONDO:equivalentTo", source="Orphanet:2047/e"} xref: OMIM:136300 {source="Orphanet:2047", source="MONDO:equivalentTo", source="Orphanet:2047/e"} xref: Orphanet:2047 {source="MONDO:equivalentTo", source="OMIM:136300"} xref: SCTID:239056006 {source="MONDO:equivalentTo"} xref: UMLS:C0343108 {source="Orphanet:2047", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:136300", source="Orphanet:2047/e"} is_a: MONDO:0000426 {source="https://orcid.org/0000-0002-2825-0621"} ! autosomal dominant disease is_a: MONDO:0019303 {source="Orphanet:2047"} ! premature aging syndrome property_value: exactMatch http://identifiers.org/mesh/C537066 property_value: exactMatch http://identifiers.org/snomedct/239056006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343108 property_value: exactMatch https://omim.org/entry/136300 property_value: exactMatch Orphanet:2047 property_value: excluded_subClassOf MONDO:0019117 {source="Orphanet:2047"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2347/flynn-aird-syndrome xsd:anyURI {source="GARD:0002347"} [Term] id: MONDO:0007626 name: familial congenital palsy of trochlear nerve def: "An instance of fourth cranial nerve palsy that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: gard_rare {source="GARD:0010355"} subset: ordo_disease {source="Orphanet:91498"} synonym: "fourth cranial nerve palsy, familial congenital" RELATED [OMIM:136480] synonym: "hereditary fourth cranial nerve palsy" EXACT [MONDO:patterns/hereditary] synonym: "strabismus from Superior oblique palsy" RELATED [OMIM:136480] synonym: "superior oblique oculomotor palsy, familial congenital" RELATED [OMIM:136480] synonym: "trochlear nerve palsy, familial congenital" RELATED [OMIM:136480] xref: MESH:C565007 {source="MONDO:equivalentTo"} xref: OMIM:136480 {source="MONDO:equivalentTo", source="Orphanet:91498", source="Orphanet:91498/e"} xref: Orphanet:91498 {source="MONDO:equivalentTo", source="OMIM:136480"} xref: UMLS:C1850996 {source="MONDO:equivalentTo", source="Orphanet:91498", source="MONDO:ncbi_mim2gene_medline", source="OMIM:136480"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015083 {source="Orphanet:91498", source="Orphanet:91498/inferred"} ! nuclear oculomotor paralysis is_a: MONDO:0020256 {source="Orphanet:91498"} ! congenital trochlear nerve palsy is_a: MONDO:0957003 ! hereditary neuro-ophthalmological disease intersection_of: MONDO:0001146 ! fourth cranial nerve palsy intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/mesh/C565007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850996 property_value: exactMatch https://omim.org/entry/136480 property_value: exactMatch Orphanet:91498 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10355/familial-congenital-palsy-of-trochlear-nerve xsd:anyURI {source="GARD:0010355"} [Term] id: MONDO:0007627 name: focal facial dermal dysplasia type I def: "Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD) characterized by congenital bitemporal cutis aplasia." [Orphanet:79133] subset: ordo_clinical_subtype {source="Orphanet:79133"} synonym: "bitemporal aplasia cutis congenita" EXACT [Orphanet:79133] synonym: "Brauer syndrome" EXACT [Orphanet:79133] synonym: "FFDD type I" EXACT [Orphanet:79133] synonym: "FFDD, type 1" RELATED [GARD:0008416] synonym: "FFDD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:136500, Orphanet:79133] synonym: "focal facial dermal dysplasia 1, Brauer type" EXACT [MONDO:Lexical, OMIM:136500, Orphanet:79133] synonym: "focal facial dermal dysplasia type 1" EXACT [Orphanet:79133] synonym: "hereditary symmetrical aplastic nevi of temples" RELATED [OMIM:136500] xref: OMIM:136500 {source="Orphanet:79133/e", source="MONDO:equivalentTo", source="Orphanet:79133"} xref: Orphanet:79133 {source="MONDO:equivalentTo", source="OMIM:136500"} xref: UMLS:CN776929 {source="MONDO:equivalentTo"} is_a: MONDO:0018363 {source="OMIM:136500", source="Orphanet:398166/btnt", source="Orphanet:79133"} ! focal facial dermal dysplasia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776929 property_value: exactMatch https://omim.org/entry/136500 property_value: exactMatch Orphanet:79133 [Term] id: MONDO:0007630 name: North Carolina macular dystrophy def: "North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination." [Orphanet:75327] comment: OMIM has the gene DHS6S1 associated with this disease, but this gene does not exist in HGNC. In NCBI gene, it says this DHS6S1 was replaced by LOC111365204 (NCBIgene:111365204), but this gene also does not exist in HGNC. subset: gard_rare {source="GARD:0009179"} subset: ordo_disease {source="Orphanet:75327"} synonym: "CAPE dystrophy" EXACT [Orphanet:75327] synonym: "caped" EXACT [Orphanet:75327] synonym: "central areolar pigment epithelial dystrophy" EXACT [OMIM:136550, Orphanet:75327] synonym: "central retinal pigment epithelial dystrophy" EXACT [Orphanet:75327] synonym: "foveal dystrophy progressive" RELATED [GARD:0009179] synonym: "foveal dystrophy, progressive" RELATED [OMIM:136550] synonym: "foveal dystrophy, progressive, formerly" RELATED [OMIM:136550] synonym: "macular dystrophy 1, North Carolina type" EXACT [OMIM:136550, OMIM:genemap2] synonym: "macular dystrophy retinal 1 North Carolina type" RELATED [GARD:0009179] synonym: "macular dystrophy, retinal, 1, NORTH Carolina type" RELATED [MONDO:Lexical, OMIM:136550] synonym: "MCDR1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:136550, Orphanet:75327] synonym: "NCMD" EXACT ABBREVIATION [Orphanet:75327] synonym: "North Carolina macular dystrophy" EXACT [OMIM:136550] synonym: "North Carolina macular dystrophy, retinal 1" EXACT [Orphanet:75327] synonym: "progressive foveal dystrophy" EXACT [Orphanet:75327] synonym: "retinal pigment epithelial dystrophy central" RELATED [GARD:0009179] synonym: "retinal pigment epithelial dystrophy, central" RELATED [OMIM:136550] xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:75327", source="Orphanet:75327/attributed", source="Orphanet:75327/ntbt"} xref: MESH:C537835 {source="MONDO:equivalentTo", source="Orphanet:75327", source="Orphanet:75327/e"} xref: OMIM:136550 {source="MONDO:equivalentTo", source="Orphanet:75327", source="Orphanet:75327/e"} xref: Orphanet:75327 {source="OMIM:136550", source="MONDO:equivalentTo"} xref: SCTID:312925009 {source="MONDO:equivalentTo"} xref: UMLS:C0730294 {source="OMIM:136550", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:75327", source="Orphanet:75327/e"} is_a: MONDO:0031166 {source="MONDO:0020243-obsoleted", source="OMIM:136550", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! macular dystrophy, retinal property_value: exactMatch http://identifiers.org/mesh/C537835 property_value: exactMatch http://identifiers.org/snomedct/312925009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0730294 property_value: exactMatch https://omim.org/entry/136550 property_value: exactMatch Orphanet:75327 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9179/north-carolina-macular-dystrophy xsd:anyURI {source="GARD:0009179"} [Term] id: MONDO:0007631 name: chromosome 16p12.1 deletion syndrome, 520kb def: "A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects." [NCIT:C129875] synonym: "chromosome 16p12.1 deletion syndrome" EXACT [NCIT:C129875] synonym: "chromosome 16p12.1 deletion syndrome, 520-KB" RELATED [OMIM:136570] synonym: "chromosome 16p12.1 deletion syndrome, type 520kb" EXACT [DOID:0060399, MONDORULE:9] synonym: "fragile site 16P12" RELATED [OMIM:136570] synonym: "fragile site, Distamycin a type, Rare, fra(16)(p12.1)" RELATED [OMIM:136570] synonym: "Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus)" EXACT [DECIPHER:92] xref: DECIPHER:92 {source="MONDO:equivalentTo"} xref: DOID:0060399 {source="MONDO:equivalentTo"} xref: MESH:C565001 {source="MONDO:equivalentTo"} xref: NCIT:C129875 {source="MONDO:equivalentTo"} xref: OMIM:136570 {source="DOID:0060399", source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="NCIT:C129875"} ! syndromic disease is_a: MONDO:0016894 {source="https://orcid.org/0000-0002-4142-7153"} ! partial deletion of the short arm of chromosome 16 property_value: exactMatch DOID:0060399 property_value: exactMatch http://identifiers.org/mesh/C565001 property_value: exactMatch https://omim.org/entry/136570 property_value: exactMatch NCIT:C129875 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0007634 name: intellectual disability, FRA12A type synonym: "intellectual disability, FRA12A type" EXACT [OMIM:136630] synonym: "mental retardation, FRA12A type" RELATED DEPRECATED [OMIM:136630] xref: MESH:C566980 {source="MONDO:equivalentTo"} xref: OMIM:136630 {source="MONDO:equivalentTo"} xref: UMLS:C1969893 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:136630"} is_a: EFO:0000508 {source="MESH:C566980/inferred"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C566980 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969893 property_value: exactMatch https://omim.org/entry/136630 [Term] id: MONDO:0007635 name: Frasier syndrome def: "Frasier syndrome is characterized by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma." [Orphanet:347] subset: gard_rare {source="GARD:0002375"} subset: ordo_disease {source="Orphanet:347"} synonym: "Frasier syndrome" EXACT [OMIM:136680] synonym: "Frasier syndrome, autosomal dominant, somatic mutation" EXACT [OMIM:136680, OMIM:genemap2] xref: DOID:0050438 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D052159 {source="Orphanet:347", source="MONDO:equivalentTo", source="DOID:0050438", source="Orphanet:347/e"} xref: NCIT:C122805 {source="MONDO:equivalentTo", source="DOID:0050438"} xref: OMIM:136680 {source="Orphanet:347", source="MONDO:equivalentTo", source="DOID:0050438", source="Orphanet:347/e"} xref: Orphanet:347 {source="OMIM:136680", source="MONDO:equivalentTo"} xref: SCTID:445431000 {source="MONDO:equivalentTo", source="DOID:0050438"} xref: UMLS:C0950122 {source="OMIM:136680", source="Orphanet:347", source="NCIT:C122805", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:0050438", source="Orphanet:347/e"} is_a: MONDO:0000426 {source="DOID:0050438", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C122805"} ! syndromic disease is_a: MONDO:0957025 ! hereditary 46,XY disorder of sex development relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch DOID:0050438 property_value: exactMatch http://identifiers.org/mesh/D052159 property_value: exactMatch http://identifiers.org/snomedct/445431000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0950122 property_value: exactMatch https://omim.org/entry/136680 property_value: exactMatch NCIT:C122805 property_value: exactMatch Orphanet:347 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2375/frasier-syndrome xsd:anyURI {source="GARD:0002375"} [Term] id: MONDO:0007636 name: frontorhiny def: "Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed." [Orphanet:391474] subset: ordo_malformation_syndrome {source="Orphanet:391474"} synonym: "ALX3-related frontonasal dysplasia" EXACT [Orphanet:391474] synonym: "FND1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:136760] synonym: "frontonasal dysplasia" RELATED [OMIM:136760] synonym: "frontonasal dysplasia 1" RELATED [MONDO:Lexical, OMIM:136760] synonym: "frontonasal dysplasia type 1" EXACT [MONDORULE:1, OMIM:136760] synonym: "frontonasal malformation" RELATED [OMIM:136760] synonym: "frontorhiny" EXACT [OMIM:136760] synonym: "isolated median cleft face syndrome" EXACT [Orphanet:391474] synonym: "isolated median cleft syndrome" RELATED [GARD:0012642] synonym: "median Facial cleft syndrome" RELATED [OMIM:136760] xref: DOID:0081045 {source="MONDO:equivalentTo"} xref: NCIT:C129028 {source="MONDO:equivalentTo"} xref: OMIM:136760 {source="MONDO:equivalentTo", source="Orphanet:391474", source="Orphanet:391474/e"} xref: Orphanet:391474 {source="OMIM:136760", source="MONDO:equivalentTo"} is_a: MONDO:0015412 {source="Orphanet:391474"} ! median facial cleft is_a: MONDO:0015961 {source="Orphanet:391474", source="Orphanet:391474/inferred"} ! hereditary head and neck malformation is_a: MONDO:0016643 {source="DC-OMIM:136760", source="OMIM:136760", source="Orphanet:391474"} ! frontonasal dysplasia is_a: MONDO:0800085 {source="PMID:31633310"} ! dysostosis with predominant craniofacial involvement property_value: exactMatch DOID:0081045 property_value: exactMatch https://omim.org/entry/136760 property_value: exactMatch NCIT:C129028 property_value: exactMatch Orphanet:391474 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0007639 name: fundus albipunctatus def: "Fundus albipunctatus is a rare, genetic retinal dystrophy characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age." [Orphanet:227796] subset: ordo_disease {source="Orphanet:227796"} synonym: "fundus albipunctatus" EXACT [OMIM:136880] synonym: "pigmentary retinal dystrophy" EXACT [DOID:11105, ICD9CM:362.74] synonym: "retinitis punctata albescens" BROAD [DOID:11105, OMIM:136880] xref: DOID:11105 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:227796/attributed", source="Orphanet:227796/ntbt", source="Orphanet:227796"} xref: ICD9:362.74 {source="DOID:11105", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:362.76 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:C562733 {source="DOID:11105", source="MONDO:equivalentTo"} xref: OMIM:136880 {source="DOID:11105", source="Orphanet:227796/e", source="MONDO:equivalentTo", source="Orphanet:227796"} xref: Orphanet:227796 {source="OMIM:136880", source="MONDO:equivalentTo"} xref: SCTID:68222009 {source="DOID:11105", source="MONDO:equivalentTo"} is_a: MONDO:0016420 {source="Orphanet:227796"} ! familial flecked retinopathy is_a: MONDO:0100443 {source="https://clinicalgenome.org/affiliation/40072/"} ! RDH5-related retinopathy is_a: MONDO:0100444 {source="https://clinicalgenome.org/affiliation/40072/"} ! RLBP1-related retinopathy property_value: exactMatch DOID:11105 property_value: exactMatch http://identifiers.org/mesh/C562733 property_value: exactMatch http://identifiers.org/snomedct/68222009 property_value: exactMatch https://omim.org/entry/136880 property_value: exactMatch Orphanet:227796 [Term] id: MONDO:0007640 name: Sorsby fundus dystrophy def: "A rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness." [Orphanet:59181] subset: ordo_disease {source="Orphanet:59181"} synonym: "fundus dystrophy, pseudoinflammatory, of Sorsby" RELATED [OMIM:136900] synonym: "hemorrhagic macular dystrophy" EXACT [DOID:0090114] synonym: "macular dystrophy, hemorrhagic" RELATED [OMIM:136900] synonym: "pseudoinflammatory fundus dystrophy of Sorsby" EXACT [DOID:0090114] synonym: "SFD" EXACT ABBREVIATION [DOID:0090114, MONDO:Lexical, OMIM:136900] synonym: "Sorsby fundus dystrophy" EXACT [MONDO:Lexical, OMIM:136900] synonym: "Sorsby pseudoinflammatory fundus dystrophy" RELATED [Orphanet:59181] synonym: "Sorsby's fundus dystrophy" EXACT [DOID:0090114] synonym: "Sorsby's pseudoinflammatory macular dystrophy" RELATED [GARD:0010511] xref: DOID:0090114 {source="MONDO:equivalentTo"} xref: MESH:C564992 {source="MONDO:equivalentTo"} xref: OMIM:136900 {source="Orphanet:59181", source="MONDO:equivalentTo", source="DOID:0090114", source="Orphanet:59181/e"} xref: Orphanet:59181 {source="MONDO:equivalentTo", source="OMIM:136900"} xref: SCTID:193410003 {source="MONDO:equivalentTo"} is_a: MONDO:0019118 {source="DOID:0090114"} ! inherited retinal dystrophy property_value: exactMatch DOID:0090114 property_value: exactMatch http://identifiers.org/mesh/C564992 property_value: exactMatch http://identifiers.org/snomedct/193410003 property_value: exactMatch https://omim.org/entry/136900 property_value: exactMatch Orphanet:59181 [Term] id: MONDO:0007646 name: Gamstorp-Wohlfart syndrome def: "A rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment." [https://orcid.org/0000-0001-5208-3432, Orphanet:324442] subset: ordo_disease {source="Orphanet:324442"} synonym: "ARAN-NM" EXACT [Orphanet:324442] synonym: "ARCMT2-NM" EXACT [Orphanet:324442] synonym: "autosomal recessive axonal neuropathy with neuromyotonia" RELATED [Orphanet:324442] synonym: "autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia" EXACT [Orphanet:324442] synonym: "autosomal recessive neuromyotonia and axonal neuropathy" EXACT [DOID:0050526] synonym: "Gamstorp-Wohlfart syndrome" EXACT [OMIM:137200] synonym: "myokymia, myotonia and muscle wasting" EXACT [DOID:0050526] synonym: "myokymia, myotonia, and muscle wasting" RELATED [OMIM:137200] synonym: "neuromyotonia and axonal neuropathy, autosomal recessive" RELATED [MONDO:Lexical, OMIM:137200] synonym: "NMAN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:137200] xref: DOID:0050526 {source="MONDO:equivalentTo"} xref: OMIM:137200 {source="Orphanet:324442/e", source="MONDO:equivalentTo", source="DOID:0050526", source="Orphanet:324442"} xref: Orphanet:324442 {source="OMIM:137200", source="MONDO:equivalentTo"} xref: SCTID:711406009 {source="MONDO:equivalentTo"} xref: UMLS:CN074193 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0002254 {source="DOID:0050526"} ! syndromic disease property_value: exactMatch DOID:0050526 property_value: exactMatch http://identifiers.org/snomedct/711406009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN074193 property_value: exactMatch https://omim.org/entry/137200 property_value: exactMatch Orphanet:324442 [Term] id: MONDO:0007648 name: hereditary diffuse gastric adenocarcinoma def: "An autosomal dominant inherited adenocarcinoma that arises from the gastric mucosa and is characterized by the presence of poorly cohesive malignant cells and absence of glandular formations." [NCIT:C43295] subset: clingen subset: gard_rare {source="GARD:0010900"} subset: ordo_disease {source="Orphanet:26106"} synonym: "diffuse gastric cancer" RELATED [GARD:0010334] synonym: "familial diffuse cancer of stomach" EXACT [Orphanet:26106] synonym: "familial diffuse gastric cancer" EXACT [Orphanet:26106] synonym: "FDGC" EXACT ABBREVIATION [Orphanet:26106] synonym: "HDGC" EXACT ABBREVIATION [MONDO:Lexical, Orphanet:26106] synonym: "hereditary diffuse cancer of stomach" EXACT [Orphanet:26106] synonym: "hereditary diffuse gastric adenocarcinoma" EXACT [MONDO:patterns/hereditary, NCIT:C43295, Orphanet:26106] synonym: "hereditary diffuse gastric cancer" EXACT [NCIT:C43295] synonym: "signet cell adenocarcinoma" RELATED [GARD:0010334] synonym: "signet ring cell gastric carcinoma" RELATED [GARD:0010334] synonym: "signet ring gastric carcinoma" RELATED [GARD:0010334] xref: DOID:0080764 {source="MONDO:equivalentTo"} xref: NCIT:C43295 {source="MONDO:equivalentTo"} xref: Orphanet:26106 {source="MONDO:equivalentTo", source="OMIM:137215"} xref: SCTID:716859000 {source="MONDO:equivalentTo"} xref: UMLS:C1708349 {source="NCIT:C43295", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:137215", source="Orphanet:26106"} is_a: EFO:0000402 {source="MONDO:Redundant", source="NCIT:C43295"} ! diffuse gastric adenocarcinoma is_a: MONDO:0015617 {source="Orphanet:26106"} ! hereditary gastro-esophageal disease is_a: MONDO:0018502 {source="MONDO:Redundant", source="Orphanet:26106"} ! hereditary gastric cancer intersection_of: EFO:0000402 ! diffuse gastric adenocarcinoma intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch DOID:0080764 property_value: exactMatch http://identifiers.org/snomedct/716859000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1708349 property_value: exactMatch NCIT:C43295 property_value: exactMatch Orphanet:26106 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5720 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10334/diffuse-gastric-cancer xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10900/hereditary-diffuse-gastric-cancer xsd:anyURI {source="GARD:0010900"} [Term] id: MONDO:0007651 name: gastrocutaneous syndrome subset: gard_rare {source="GARD:0002438"} subset: ordo_disease {source="Orphanet:2069"} synonym: "gastrocutaneous syndrome" EXACT [OMIM:137270] synonym: "peptic Ulcer/hiatal hernia, multiple lentigines/cafe-Au-lait Spots, hypertelorism, myopia" RELATED [OMIM:137270] xref: MESH:C535651 {source="Orphanet:2069", source="MONDO:equivalentTo", source="Orphanet:2069/e"} xref: OMIM:137270 {source="Orphanet:2069", source="MONDO:equivalentTo", source="Orphanet:2069/e"} xref: Orphanet:2069 {source="MONDO:equivalentTo", source="OMIM:137270"} xref: UMLS:C1850899 {source="Orphanet:2069", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2069/e", source="OMIM:137270"} is_a: MONDO:0019289 {source="Orphanet:2069"} ! hyperpigmentation of the skin property_value: exactMatch http://identifiers.org/mesh/C535651 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850899 property_value: exactMatch https://omim.org/entry/137270 property_value: exactMatch Orphanet:2069 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2438/gastrocutaneous-syndrome xsd:anyURI {source="GARD:0002438"} [Term] id: MONDO:0007653 name: genochondromatosis subset: gard_rare {source="GARD:0010621"} subset: prototype_pattern synonym: "genochondromatosis" EXACT [OMIM:137360] xref: MESH:C563215 {source="MONDO:equivalentTo"} xref: OMIM:137360 {source="MONDO:equivalentTo"} xref: SCTID:389264005 {source="MONDO:equivalentTo"} xref: UMLS:C1300229 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:137360"} is_a: MONDO:0800089 {source="PMID:31633310"} ! primary bone dysplasia with disorganized development of skeletal components property_value: exactMatch http://identifiers.org/mesh/C563215 property_value: exactMatch http://identifiers.org/snomedct/389264005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1300229 property_value: exactMatch https://omim.org/entry/137360 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10621/genochondromatosis xsd:anyURI {source="GARD:0010621"} [Term] id: MONDO:0007656 name: Gerstmann-Straussler-Scheinker syndrome def: "A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia." [NCIT:P378] comment: Editor note: MESH considers as two diseases subset: ordo_disease {source="Orphanet:356"} synonym: "amyloidosis cerebral with spongiform encephalopathy" RELATED [GARD:0007690] synonym: "amyloidosis, cerebral, with spongiform encephalopathy" RELATED [OMIM:137440] synonym: "cerebellar ataxia, progressive dementia, and amyloid deposits in CNS" RELATED [OMIM:137440] synonym: "cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system" RELATED [GARD:0007690] synonym: "cerebral amyloid angiopathy, Prnp-related" RELATED [OMIM:137440] synonym: "encephalopathy subacute spongiform Gerstmann-Straussler type" RELATED [GARD:0007690] synonym: "encephalopathy, Subacute spongiform, Gerstmann-Straussler type" RELATED [OMIM:137440] synonym: "Gerstmann Straussler Scheinker syndrome" RELATED [GARD:0007690] synonym: "Gerstmann-Straussler disease" RELATED [MONDO:Lexical, OMIM:137440] synonym: "Gerstmann-Straussler-Scheinker disease" EXACT [DOID:4249, OMIM:137440] synonym: "GSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:137440] synonym: "prion dementia" EXACT [DOID:4249, OMIM:137440] synonym: "subacute spongiform encephalopathy, Gerstmann-Straussler type" EXACT [Orphanet:356] xref: DOID:4249 {source="MONDO:equivalentTo"} xref: ICD10CM:A81.82 {source="MONDO:equivalentTo", source="DOID:4249"} xref: ICD9:046.71 {source="DOID:4249"} xref: MedDRA:10072075 {source="Orphanet:356", source="Orphanet:356/e"} xref: MESH:C535800 {source="MONDO:equivalentTo"} xref: NCIT:C84727 {source="MONDO:equivalentTo", source="DOID:4249"} xref: OMIM:137440 {source="Orphanet:356", source="MONDO:equivalentTo", source="DOID:4249", source="Orphanet:356/e"} xref: Orphanet:356 {source="OMIM:137440", source="MONDO:equivalentTo"} xref: SCTID:67155006 {source="MONDO:equivalentTo", source="DOID:4249"} xref: UMLS:C0017495 {source="Orphanet:356", source="OMIM:137440", source="MONDO:equivalentTo", source="DOID:4249", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C84727", source="Orphanet:356/e"} is_a: MONDO:0017234 {source="Orphanet:356"} ! inherited prion disease property_value: closeMatch http://identifiers.org/meddra/10072075 property_value: exactMatch DOID:4249 property_value: exactMatch http://identifiers.org/mesh/C535800 property_value: exactMatch http://identifiers.org/snomedct/67155006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017495 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A81.82 property_value: exactMatch https://omim.org/entry/137440 property_value: exactMatch NCIT:C84727 property_value: exactMatch Orphanet:356 [Term] id: MONDO:0007664 name: glaucoma 1, open angle, A def: "Any juvenile glaucoma in which the cause of the disease is a mutation in the MYOC gene." [MONDO:patterns/disease_series_by_gene] synonym: "glaucoma 1, open angle, 50" RELATED [OMIM:137750] synonym: "glaucoma 1, open angle, A" EXACT [MONDO:Lexical, OMIM:137750] synonym: "glaucoma 1, open angle, type A" EXACT [MONDORULE:1, OMIM:137750] synonym: "glaucoma 1A, primary open angle" EXACT [OMIM:137750, OMIM:genemap2] synonym: "glaucoma hereditary, juvenile" RELATED [GARD:0009485] synonym: "glaucoma, primary open angle, juvenile-onset, 1" RELATED [OMIM:137750] synonym: "GLC1A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:137750] synonym: "JOAG1" BROAD ABBREVIATION [GARD:0009485] synonym: "JOAG1A" EXACT ABBREVIATION [] synonym: "juvenile glaucoma caused by mutation in MYOC" EXACT [MONDO:design_pattern] synonym: "juvenile open angle glaucoma caused by mutation in MYOC" EXACT [] synonym: "MYOC juvenile glaucoma" EXACT [MONDO:design_pattern] synonym: "MYOC juvenile open angle glaucoma" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "primary open angle glaucoma juvenile onset 1" RELATED [GARD:0009485] xref: MESH:C564234 {source="MONDO:equivalentTo"} xref: OMIM:137750 {source="MONDO:equivalentTo"} xref: UMLS:C1842028 {source="OMIM:137750", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0020367 {source="MONDO:Redundant", source="Orphanet:98977/btnt"} ! juvenile open angle glaucoma property_value: exactMatch http://identifiers.org/mesh/C564234 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842028 property_value: exactMatch https://omim.org/entry/137750 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007666 name: glaucoma-sleep apnea syndrome def: "Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children)." [Orphanet:2085] subset: gard_rare subset: ordo_disease {source="Orphanet:2085"} synonym: "glaucoma and sleep apnea" RELATED [OMIM:137763] synonym: "glaucoma sleep apnea" RELATED [GARD:0002483] xref: MESH:C564232 {source="MONDO:equivalentTo"} xref: OMIM:137763 {source="Orphanet:2085/e", source="MONDO:equivalentTo", source="Orphanet:2085", source="GARD:0002483"} xref: Orphanet:2085 {source="MONDO:equivalentTo", source="OMIM:137763", source="GARD:0002483"} xref: UMLS:C1842025 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:137763", source="Orphanet:2085", source="GARD:0002483"} is_a: EFO:0003966 {source="MONDO:0020222-obsoleted"} ! eye disease is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDO:indirect"} ! syndromic disease property_value: exactMatch http://identifiers.org/mesh/C564232 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842025 property_value: exactMatch https://omim.org/entry/137763 property_value: exactMatch Orphanet:2085 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2483/glaucoma-sleep-apnea xsd:anyURI {source="GARD:0002483"} [Term] id: MONDO:0007669 name: renal cysts and diabetes syndrome def: "Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome." [Orphanet:93111] subset: gard_rare {source="GARD:0010221"} subset: ordo_disease {source="Orphanet:93111"} synonym: "atypical familial juvenile hyperuricemic nephropathy" EXACT [DOID:0111101] synonym: "atypical FJHN" EXACT [DOID:0111101] synonym: "CAKUT with diabetes" EXACT [DOID:0111101] synonym: "congenital anomalies of the kidney and urinary tract with diabetes" EXACT [DOID:0111101, OMIM:137920] synonym: "familial hypoplastic glomerulocystic kidney" EXACT [DOID:0111101] synonym: "FJHN atypical" RELATED [GARD:0010221] synonym: "FJHN, atypical" RELATED [OMIM:137920] synonym: "glomerulocystic kidney disease, hypoplastic type" RELATED [OMIM:137920] synonym: "glomerulocystic kidney, familial hypoplastic" RELATED [OMIM:137920] synonym: "hepatocyte nuclear Factor 1-beta-associated monogenic diabetes" EXACT [NCIT:C123018] synonym: "HNF1B-MODY" EXACT [Orphanet:93111] synonym: "HNF1B-related renal cysts and diabetes syndrome" EXACT [Orphanet:93111] synonym: "hyperuricemic nephropathy, familial juvenile, atypical" RELATED [OMIM:137920] synonym: "hypoplastic type glomerulocystic kidney disease" EXACT [DOID:0111101] synonym: "maturity onset diabetes of the Young, type 5" EXACT [NCIT:C123018] synonym: "maturity-onset diabetes of the young type 5" RELATED [DOID:0111101] synonym: "maturity-onset diabetes of the Young, type 5" RELATED [OMIM:137920] synonym: "MODY type 5" RELATED [GARD:0010221] synonym: "MODY5" EXACT ABBREVIATION [DOID:0111101, Orphanet:93111] synonym: "RCAD" EXACT ABBREVIATION [DOID:0111101, MONDO:Lexical, OMIM:137920] synonym: "RCAD syndrome" EXACT [Orphanet:93111] synonym: "renal cysts and diabetes syndrome" EXACT [DOID:0111101, MONDO:Lexical, OMIM:137920] synonym: "renal cysts-maturity-onset diabetes of the young syndrome" EXACT [Orphanet:93111] synonym: "renal dysfunction-early-onset diabetes syndrome" EXACT [Orphanet:93111] xref: DECIPHER:47 {source="MONDO:equivalentTo"} xref: DOID:0111101 {source="MONDO:equivalentTo"} xref: MESH:C535520 {source="Orphanet:93111", source="MONDO:equivalentTo", source="Orphanet:93111/e"} xref: NCIT:C123018 {source="MONDO:equivalentTo"} xref: OMIM:137920 {source="Orphanet:93111", source="MONDO:equivalentTo", source="Orphanet:93111/e", source="DOID:0111101"} xref: Orphanet:93111 {source="MONDO:equivalentTo", source="OMIM:137920"} xref: SCTID:446641003 {source="MONDO:equivalentTo"} xref: UMLS:C0431693 {source="Orphanet:93111", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:137920", source="NCIT:C123018"} xref: UMLS:CN206512 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C123018"} ! syndromic disease is_a: MONDO:0018911 {source="DOID:0111101"} ! maturity-onset diabetes of the young property_value: exactMatch DOID:0111101 property_value: exactMatch http://identifiers.org/mesh/C535520 property_value: exactMatch http://identifiers.org/snomedct/446641003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431693 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206512 property_value: exactMatch https://omim.org/entry/137920 property_value: exactMatch NCIT:C123018 property_value: exactMatch Orphanet:93111 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10221/maturity-onset-diabetes-of-the-young-type-5 xsd:anyURI {source="GARD:0010221"} [Term] id: MONDO:0007670 name: hypotrichosis-lymphedema-telangiectasia syndrome (grouping) def: "Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms." [] subset: ordo_disease {source="Orphanet:69735"} synonym: "hypotrichosis lymphedema telangiectasia syndrome" RELATED [GARD:0012827] xref: Orphanet:69735 {source="MONDO:equivalentTo"} is_a: MONDO:0019313 ! lymphatic malformation is_a: MONDO:0019520 {source="Orphanet:69735"} ! syndromic lymphedema property_value: exactMatch Orphanet:69735 [Term] id: MONDO:0007671 name: fibronectin glomerulopathy def: "A hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life." [https://orcid.org/0000-0001-5208-3432, Orphanet:84090] comment: Editor note: consider splitting out type 1, and also separate class for giant subtype subset: gard_rare subset: ordo_disease {source="Orphanet:84090"} subset: prototype_pattern synonym: "fibronectin glomerulopathy" EXACT [MESH:C536826] synonym: "GFND" EXACT ABBREVIATION [Orphanet:84090] synonym: "GFND1" RELATED ABBREVIATION [GARD:0009268, MESH:C536826, MONDO:Lexical, OMIM:137950] synonym: "GFND2" RELATED ABBREVIATION [MESH:C536826] synonym: "glomerular nephritis, familial, with fibronectin deposits" RELATED [MESH:C536826] synonym: "glomerulopathy with fibronectin deposits" EXACT [Orphanet:84090] synonym: "glomerulopathy with fibronectin deposits 1" RELATED [MESH:C536826, MONDO:Lexical, OMIM:137950] synonym: "glomerulopathy with fibronectin deposits 2" RELATED [MESH:C536826] synonym: "glomerulopathy with giant fibrillar deposits" RELATED [GARD:0009268, MESH:C536826] synonym: "lobular glomerulopathy, familial" RELATED [MESH:C536826] xref: MESH:C536826 {source="MONDO:equivalentTo"} xref: MESH:C562900 {source="MONDO:equivalentTo"} xref: OMIMPS:137950 {source="MONDO:equivalentTo"} xref: Orphanet:84090 {source="MONDO:equivalentTo", source="OMIM:137950", source="GARD:0009268"} xref: SCTID:236535001 {source="MONDO:equivalentTo"} is_a: EFO:1002049 {source="https://orcid.org/0000-0001-5208-3432"} ! glomerular disease is_a: MONDO:0100191 ! inherited kidney disorder property_value: exactMatch http://identifiers.org/mesh/C536826 property_value: exactMatch http://identifiers.org/mesh/C562900 property_value: exactMatch http://identifiers.org/snomedct/236535001 property_value: exactMatch https://omim.org/phenotypicSeries/PS137950 property_value: exactMatch Orphanet:84090 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9268/glomerulopathy-with-fibronectin-deposits-1 xsd:anyURI {source="GARD:0009268"} [Term] id: MONDO:0007672 name: glomuvenous malformation def: "Glomuvenous malformations (GVMs) are hereditary vascular malformations characterized by the presence of small, multifocal bluish-purple venous lesions involving the skin." [Orphanet:83454] subset: ordo_malformation_syndrome {source="Orphanet:83454"} synonym: "familial glomangioma" EXACT [MONDO:0004424, NCIT:C5350] synonym: "glomangiomas, multiple" RELATED [OMIM:138000] synonym: "glomangiomatosis" RELATED [Orphanet:83454] synonym: "glomus tumors, multiple" RELATED [OMIM:138000] synonym: "glomuvenous malformation" EXACT [] synonym: "GLOMUVENOUS malformations" RELATED [MONDO:Lexical, OMIM:138000] synonym: "GVM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:138000] synonym: "hereditary glomangioma" EXACT [MONDO:patterns/hereditary, NCIT:C5350] synonym: "hereditary multiple glomangiomas" EXACT [Orphanet:83454] synonym: "multiple glomus tumors" EXACT [Orphanet:83454] synonym: "multiple glomus tumours" EXACT OMO:0003005 [] synonym: "Venous malformations with glomus cells" EXACT [OMIM:138000, Orphanet:83454] synonym: "VMGLOM" EXACT ABBREVIATION [Orphanet:83454] xref: DOID:7996 {source="MONDO:equivalentTo"} xref: MedDRA:10018381 {source="Orphanet:83454", source="Orphanet:83454/e"} xref: MESH:C536827 {source="Orphanet:83454", source="MONDO:equivalentTo", source="Orphanet:83454/e"} xref: NCIT:C5350 {source="DOID:7996", source="MONDO:equivalentTo"} xref: OMIM:138000 {source="Orphanet:83454", source="MONDO:equivalentTo", source="Orphanet:83454/e"} xref: Orphanet:83454 {source="OMIM:138000", source="MONDO:equivalentTo"} xref: SCTID:715644000 {source="MONDO:equivalentTo"} xref: UMLS:C1333987 {source="NCIT:C5350", source="DOID:7996", source="MONDO:equivalentTo"} xref: UMLS:C1841984 {source="OMIM:138000", source="Orphanet:83454", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:83454/e"} is_a: MONDO:0015145 {source="Orphanet:83454"} ! neurovascular malformation is_a: MONDO:0016229 {source="MONDO:0018730-obsoleted"} ! hereditary vascular anomaly is_a: MONDO:0016230 {source="MONDO:0016232-obsoleted"} ! simple vascular malformation is_a: MONDO:0043218 ! neurovascular disorder property_value: closeMatch http://identifiers.org/meddra/10018381 property_value: exactMatch DOID:7996 property_value: exactMatch http://identifiers.org/mesh/C536827 property_value: exactMatch http://identifiers.org/snomedct/715644000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333987 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1841984 property_value: exactMatch https://omim.org/entry/138000 property_value: exactMatch NCIT:C5350 property_value: exactMatch Orphanet:83454 property_value: excluded_subClassOf MONDO:0002299 {source="DOID:7996", source="MONDO:Redundant", source="NCIT:C5350", source="PMID:15689436"} [Term] id: MONDO:0007679 name: GMS syndrome def: "GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992." [Orphanet:2090] subset: gard_rare {source="GARD:0002523"} subset: ordo_malformation_syndrome {source="Orphanet:2090"} synonym: "GMS syndrome" EXACT [OMIM:138770] synonym: "Goniodysgenesis--intellectual disability--short stature syndrome" RELATED [OMIM:138770] synonym: "Goniodysgenesis--mental retardation--short stature syndrome" RELATED DEPRECATED [OMIM:138770] synonym: "Goniodysgenesis-intellectual disability-short stature syndrome" EXACT [Orphanet:2090] xref: MESH:C564214 {source="MONDO:equivalentTo"} xref: OMIM:138770 {source="MONDO:equivalentTo", source="Orphanet:2090", source="Orphanet:2090/e"} xref: Orphanet:2090 {source="OMIM:138770", source="MONDO:equivalentTo"} xref: SCTID:716024001 {source="MONDO:equivalentTo"} xref: UMLS:C1841854 {source="OMIM:138770", source="MONDO:equivalentTo", source="Orphanet:2090", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: exactMatch http://identifiers.org/mesh/C564214 property_value: exactMatch http://identifiers.org/snomedct/716024001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1841854 property_value: exactMatch https://omim.org/entry/138770 property_value: exactMatch Orphanet:2090 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:2090"} property_value: excluded_subClassOf MONDO:0020218 {source="Orphanet:2090"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2523/gms-syndrome xsd:anyURI {source="GARD:0002523"} [Term] id: MONDO:0007680 name: multinodular goiter-cystic kidney-polydactyly syndrome def: "Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies." [Orphanet:2091] subset: ordo_malformation_syndrome {source="Orphanet:2091"} synonym: "Daneman Davy Mancer syndrome" RELATED [GARD:0001671] synonym: "Daneman-Davy-Mancer syndrome" EXACT [Orphanet:2091] synonym: "goiter, multinodular, cystic renal disease, and digital anomalies" RELATED [OMIM:138790] synonym: "MNG/CRD/Da" RELATED [OMIM:138790] synonym: "multinodular goiter - cystic kidney - polydactyly" RELATED [GARD:0001671] synonym: "multinodular goiter, cystic renal disease, and digital anomalies" RELATED [GARD:0001671] synonym: "multinodular goiter/cystic renal disease/digital anomalies" RELATED [OMIM:138790] synonym: "multinodular goitre - cystic kidney - polydactyly" RELATED OMO:0003005 [] synonym: "thyroid-renal-digital anomalies" EXACT [Orphanet:2091] xref: MESH:C535986 {source="MONDO:equivalentTo"} xref: OMIM:138790 {source="MONDO:equivalentTo", source="Orphanet:2091", source="Orphanet:2091/e"} xref: Orphanet:2091 {source="MONDO:equivalentTo", source="OMIM:138790"} xref: SCTID:723409007 {source="MONDO:equivalentTo"} xref: UMLS:C1841853 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2091", source="OMIM:138790", source="Orphanet:2091/e"} is_a: MONDO:0015161 {source="Orphanet:2091"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C535986 property_value: exactMatch http://identifiers.org/snomedct/723409007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1841853 property_value: exactMatch https://omim.org/entry/138790 property_value: exactMatch Orphanet:2091 [Term] id: MONDO:0007681 name: goiter, multinodular 1, with or without Sertoli-Leydig cell tumors def: "Any multinodular goiter in which the cause of the disease is a mutation in the DICER1 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:276399"} synonym: "euthyroid goiter" BROAD [OMIM:138800] synonym: "euthyroid goitre" BROAD OMO:0003005 [] synonym: "familial MNG" EXACT [Orphanet:276399] synonym: "FMNG" EXACT ABBREVIATION [Orphanet:276399] synonym: "goiter, multinodular 1, with or without Sertoli-Leydig cell tumors" EXACT [MONDO:Lexical, OMIM:138800] synonym: "goiter, nontoxic, with Intrathyroidal calcification" EXACT [OMIM:138800] synonym: "MNG1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:138800] synonym: "multinodular goiter, adolescent" EXACT [OMIM:138800] synonym: "simple goiter" BROAD [OMIM:138800] synonym: "simple goitre" BROAD OMO:0003005 [] xref: ICD9:240.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:C562732 {source="MONDO:equivalentTo"} xref: OMIM:138800 {source="Orphanet:276399", source="MONDO:equivalentTo", source="Orphanet:276399/e"} xref: Orphanet:276399 {source="MONDO:equivalentTo", source="OMIM:138800"} xref: SCTID:267369002 {source="MONDO:equivalentTo"} xref: UMLS:CN202615 {source="MONDO:equivalentTo"} is_a: MONDO:0000334 {source="DC-OMIM:138800", source="MONDO:Redundant", source="OMIM:138800"} ! multinodular goiter is_a: MONDO:0015356 {source="Orphanet:276399"} ! hereditary neoplastic syndrome property_value: exactMatch http://identifiers.org/mesh/C562732 property_value: exactMatch http://identifiers.org/snomedct/267369002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202615 property_value: exactMatch https://omim.org/entry/138800 property_value: exactMatch Orphanet:276399 [Term] id: MONDO:0007683 name: Grant syndrome def: "Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986." [Orphanet:2097] subset: gard_rare {source="GARD:0002559"} subset: ordo_malformation_syndrome {source="Orphanet:2097"} synonym: "Grant syndrome" EXACT [OMIM:138930] synonym: "persistent wormian bones, blue sclerae, mandibular hypoplasia, shallow glenoid fossae and campomelia" RELATED [GARD:0002559] xref: MESH:C537293 {source="Orphanet:2097/e", source="MONDO:equivalentTo", source="Orphanet:2097"} xref: OMIM:138930 {source="Orphanet:2097/e", source="MONDO:equivalentTo", source="Orphanet:2097"} xref: Orphanet:2097 {source="MONDO:equivalentTo", source="OMIM:138930"} xref: SCTID:723827003 {source="MONDO:equivalentTo"} xref: UMLS:C1841835 {source="Orphanet:2097/e", source="MONDO:equivalentTo", source="OMIM:138930", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2097"} is_a: EFO:0000508 {source="OMIM:138930"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C537293 property_value: exactMatch http://identifiers.org/snomedct/723827003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1841835 property_value: exactMatch https://omim.org/entry/138930 property_value: exactMatch Orphanet:2097 property_value: excluded_subClassOf MONDO:0019704 {source="Orphanet:2097"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2559/grant-syndrome xsd:anyURI {source="GARD:0002559"} [Term] id: MONDO:0007686 name: gray platelet syndrome def: "Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear." [Orphanet:721] subset: gard_rare {source="GARD:0002562"} subset: ordo_disease {source="Orphanet:721"} synonym: "Alpha storage pool deficiency" EXACT [Orphanet:721] synonym: "BDPLT4" EXACT ABBREVIATION [DOID:0111044] synonym: "bleeding disorder, Platelet-type, 4" RELATED [OMIM:139090] synonym: "GPS" EXACT ABBREVIATION [DOID:0111044, MONDO:Lexical, OMIM:139090, Orphanet:721] synonym: "gray platelet syndrome" EXACT [MONDO:Lexical, NCIT:C84741, OMIM:139090] synonym: "marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins" RELATED [GARD:0002562] synonym: "platelet alpha-granule deficiency" EXACT [DOID:0111044, Orphanet:721] synonym: "platelet-type bleeding disorder 4" EXACT [DOID:0111044] xref: DOID:0111044 {source="MONDO:equivalentTo"} xref: MESH:D055652 {source="Orphanet:721", source="MONDO:equivalentTo", source="Orphanet:721/e", source="DOID:0111044"} xref: NCIT:C84741 {source="MONDO:equivalentTo"} xref: OMIM:139090 {source="Orphanet:721", source="MONDO:equivalentTo", source="Orphanet:721/e", source="DOID:0111044"} xref: Orphanet:721 {source="MONDO:equivalentTo", source="OMIM:139090"} xref: SCTID:51720005 {source="MONDO:equivalentTo"} xref: UMLS:C0272302 {source="Orphanet:721", source="MONDO:equivalentTo", source="OMIM:139090", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:721/e", source="DOID:0111044", source="NCIT:C84741"} xref: UMLS:C2717750 {source="Orphanet:721", source="MONDO:equivalentTo"} xref: UMLS:CN205641 {source="MONDO:equivalentTo"} is_a: MONDO:0000009 {source="DC-OMIM:139090", source="MONDO:Redundant", source="OMIM:139090"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0002254 {source="NCIT:C84741"} ! syndromic disease is_a: MONDO:0020117 {source="Orphanet:721"} ! alpha granule disease property_value: exactMatch DOID:0111044 property_value: exactMatch http://identifiers.org/mesh/D055652 property_value: exactMatch http://identifiers.org/snomedct/51720005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272302 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2717750 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205641 property_value: exactMatch https://omim.org/entry/139090 property_value: exactMatch NCIT:C84741 property_value: exactMatch Orphanet:721 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2562/gray-platelet-syndrome xsd:anyURI {source="GARD:0002562"} [Term] id: MONDO:0007688 name: Myhre syndrome def: "Myhre syndrome is characterized by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients." [Orphanet:2588] subset: gard_rare {source="GARD:0002572"} subset: ordo_malformation_syndrome {source="Orphanet:2588"} synonym: "facial dysmorphism - intellectual deficit - short stature - hearing loss" RELATED [GARD:0002572] synonym: "facial dysmorphism-intellectual disability-short stature-hearing loss syndrome" EXACT [Orphanet:2588] synonym: "Growth mental deficiency syndrome of Myhre" RELATED [GARD:0002572] synonym: "Growth-mental deficiency syndrome of Myhre" RELATED [OMIM:139210] synonym: "LAPS syndrome" RELATED [GARD:0002572] synonym: "laryngotracheal stenosis, arthropathy, prognathism, and short stature" RELATED [OMIM:139210] synonym: "MYHRE syndrome" RELATED [OMIM:139210] synonym: "Myhre syndrome" EXACT [MONDO:Lexical, OMIM:139210] synonym: "MYHRS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:139210] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537620 {source="MONDO:equivalentTo"} xref: NCIT:C123815 {source="MONDO:equivalentTo"} xref: OMIM:139210 {source="Orphanet:2588", source="MONDO:equivalentTo", source="Orphanet:2588/e"} xref: Orphanet:2588 {source="OMIM:139210", source="MONDO:equivalentTo"} xref: SCTID:699316006 {source="MONDO:equivalentTo"} xref: UMLS:C0796081 {source="OMIM:139210", source="NCIT:C123815", source="Orphanet:2588", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2588/e"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2588", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:2588"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0019695 {source="Orphanet:2588", source="PMID:31633310"} ! acromelic dysplasia property_value: exactMatch http://identifiers.org/mesh/C537620 property_value: exactMatch http://identifiers.org/snomedct/699316006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796081 property_value: exactMatch https://omim.org/entry/139210 property_value: exactMatch NCIT:C123815 property_value: exactMatch Orphanet:2588 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2572/myhre-syndrome xsd:anyURI {source="GARD:0002572"} [Term] id: MONDO:0007690 name: aromatase excess syndrome def: "Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all." [Orphanet:178345] subset: gard_rare {source="GARD:0012494"} subset: ordo_disease {source="Orphanet:178345"} synonym: "AEXS" EXACT ABBREVIATION [DOID:0090122, MONDO:Lexical, OMIM:139300, Orphanet:178345] synonym: "aromatase activity, increased" RELATED [OMIM:139300] synonym: "aromatase excess syndrome" EXACT [MESH:C000591739, MONDO:Lexical, OMIM:139300] synonym: "familial hyperestrogenism" EXACT [DOID:0090122, Orphanet:178345] synonym: "gynecomastia, familial, due to increased aromatase activity" EXACT [MESH:C000591739] synonym: "gynecomastia, hereditary" EXACT [MESH:C000591739] synonym: "hereditary prepubertal gynecomastia" EXACT [DOID:0090122, Orphanet:178345] synonym: "increased aromatase activity" EXACT [DOID:0090122] xref: DOID:0090122 {source="MONDO:equivalentTo"} xref: ICD9:259.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C000591739 {source="MONDO:equivalentTo"} xref: OMIM:139300 {source="DOID:0090122", source="Orphanet:178345", source="MONDO:equivalentTo", source="Orphanet:178345/e"} xref: Orphanet:178345 {source="OMIM:139300", source="DOID:0090122", source="MONDO:equivalentTo"} xref: SCTID:709075008 {source="MONDO:equivalentTo"} xref: UMLS:C1970109 {source="OMIM:139300", source="Orphanet:178345", source="MONDO:equivalentTo"} is_a: EFO:0000512 ! reproductive system disease is_a: MONDO:0019052 {source="MESH:C000591739"} ! inborn errors of metabolism relationship: disease_has_feature MONDO:0015791 {source="Orphanet:178345"} ! peripheral precocious puberty property_value: exactMatch DOID:0090122 property_value: exactMatch http://identifiers.org/mesh/C000591739 property_value: exactMatch http://identifiers.org/snomedct/709075008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970109 property_value: exactMatch https://omim.org/entry/139300 property_value: exactMatch Orphanet:178345 property_value: excluded_subClassOf MONDO:0016072 {source="Orphanet:178345"} property_value: excluded_subClassOf MONDO:0018561 {source="Orphanet:178345", source="https://github.com/Orphanet/ORDO/issues/19"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12494/aromatase-excess-syndrome xsd:anyURI {source="GARD:0012494"} [Term] id: MONDO:0007693 name: hypertrichosis cubiti-short stature syndrome def: "Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated." [Orphanet:2220] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2220"} synonym: "hairy elbows" EXACT [OMIM:139600, Orphanet:2220] synonym: "hairy elbows syndrome" EXACT [Orphanet:2220] synonym: "hypertrichosis cubiti" RELATED [GARD:0000143, OMIM:139600] synonym: "MacDermot-Patton-Williams syndrome" EXACT [Orphanet:2220] xref: MedDRA:10068636 {source="Orphanet:2220", source="Orphanet:2220/e"} xref: MESH:C535618 {source="MONDO:equivalentTo"} xref: OMIM:139600 {source="GARD:0000143", source="Orphanet:2220", source="MONDO:equivalentTo", source="Orphanet:2220/e"} xref: Orphanet:2220 {source="GARD:0000143", source="MONDO:equivalentTo", source="OMIM:139600"} xref: UMLS:C1841696 {source="Orphanet:2220", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:139600", source="Orphanet:2220/e"} is_a: MONDO:0019280 {source="MESH:C535618", source="Orphanet:2220"} ! hypertrichosis is_a: MONDO:0019287 {source="Orphanet:2220"} ! ectodermal dysplasia syndrome property_value: closeMatch http://identifiers.org/meddra/10068636 property_value: exactMatch http://identifiers.org/mesh/C535618 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1841696 property_value: exactMatch https://omim.org/entry/139600 property_value: exactMatch Orphanet:2220 [Term] id: MONDO:0007696 name: Emery-Nelson syndrome subset: ordo_malformation_syndrome {source="Orphanet:1927"} synonym: "familial syndrome of short stature, deformities of the hands and feet, and unusual facies" RELATED [GARD:0002593] synonym: "hand and foot deformity - flat facies" RELATED [GARD:0002593] synonym: "hand and foot deformity with flat facies" RELATED [OMIM:139750] synonym: "hand and foot deformity-flat facies syndrome" EXACT [Orphanet:1927] xref: MESH:C535626 {source="MONDO:equivalentTo"} xref: OMIM:139750 {source="Orphanet:1927/e", source="MONDO:equivalentTo", source="Orphanet:1927"} xref: Orphanet:1927 {source="OMIM:139750", source="MONDO:equivalentTo"} xref: UMLS:C1841693 {source="OMIM:139750", source="Orphanet:1927/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1927"} is_a: MONDO:0019054 {source="MONDO:0015226-obsoleted"} ! congenital limb malformation relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C535626 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1841693 property_value: exactMatch https://omim.org/entry/139750 property_value: exactMatch Orphanet:1927 [Term] id: MONDO:0007698 name: hand-foot-genital syndrome def: "Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects." [Orphanet:2438] subset: ordo_malformation_syndrome {source="Orphanet:2438"} synonym: "hand foot genital syndrome" RELATED [GARD:0002594] synonym: "hand foot uterus syndrome" RELATED [GARD:0002594] synonym: "hand-foot-genital syndrome" EXACT [MONDO:Lexical, OMIM:140000] synonym: "hand-foot-uterus syndrome" EXACT [DOID:0060739, OMIM:140000, Orphanet:2438] synonym: "HFG" RELATED ABBREVIATION [MONDO:Lexical, OMIM:140000] synonym: "HFG syndrome" RELATED [GARD:0002594] synonym: "HFGS" EXACT ABBREVIATION [DOID:0060739, Orphanet:2438] synonym: "HFU syndrome" RELATED [GARD:0002594] xref: DOID:0060739 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10072361 {source="Orphanet:2438", source="Orphanet:2438/e"} xref: MESH:C535627 {source="MONDO:equivalentTo"} xref: OMIM:140000 {source="MONDO:equivalentTo", source="Orphanet:2438", source="Orphanet:2438/e", source="DOID:0060739"} xref: Orphanet:2438 {source="MONDO:equivalentTo", source="OMIM:140000", source="DOID:0060739"} xref: SCTID:702425002 {source="MONDO:equivalentTo"} xref: UMLS:C1841679 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2438", source="OMIM:140000", source="Orphanet:2438/e"} is_a: MONDO:0000426 {source="DOID:0060739", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0015161 {source="Orphanet:2438"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015846 {source="Orphanet:2438"} ! syndromic uterovaginal malformation is_a: MONDO:0018454 ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation is_a: MONDO:0800094 {source="PMID:31633310"} ! dysostosis with brachydactyly with extraskeletal manifestations property_value: closeMatch http://identifiers.org/meddra/10072361 property_value: exactMatch DOID:0060739 property_value: exactMatch http://identifiers.org/mesh/C535627 property_value: exactMatch http://identifiers.org/snomedct/702425002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1841679 property_value: exactMatch https://omim.org/entry/140000 property_value: exactMatch Orphanet:2438 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0007700 name: hawkinsinuria def: "Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine." [Orphanet:2118] subset: gard_rare {source="GARD:0005668"} subset: ordo_disease {source="Orphanet:2118"} synonym: "4-alpha-hydroxyphenylpyruvate hydroxylase deficiency" EXACT [Orphanet:2118] synonym: "4-HPPD deficiency" EXACT [Orphanet:2118] synonym: "4-hydroxyphenylpyruvic acid dioxygenase deficiency" EXACT [Orphanet:2118] synonym: "hawkinsinuria" EXACT [OMIM:140350] xref: DOID:0111362 {source="MONDO:equivalentTo"} xref: MESH:C535845 {source="MONDO:equivalentTo", source="Orphanet:2118", source="Orphanet:2118/e"} xref: OMIM:140350 {source="MONDO:equivalentTo", source="Orphanet:2118", source="Orphanet:2118/e"} xref: Orphanet:2118 {source="MONDO:equivalentTo", source="OMIM:140350"} xref: SCTID:414380008 {source="MONDO:equivalentTo"} xref: UMLS:C2931042 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:140350", source="Orphanet:2118", source="Orphanet:2118/e"} is_a: MONDO:0017307 {source="Orphanet:2118", source="PMID:33340416"} ! disorder of tyrosine metabolism property_value: exactMatch DOID:0111362 property_value: exactMatch http://identifiers.org/mesh/C535845 property_value: exactMatch http://identifiers.org/snomedct/414380008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931042 property_value: exactMatch https://omim.org/entry/140350 property_value: exactMatch Orphanet:2118 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5668/hawkinsinuria xsd:anyURI {source="GARD:0005668"} [Term] id: MONDO:0007702 name: heart-hand syndrome type 3 def: "Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle." [Orphanet:1342] subset: ordo_malformation_syndrome {source="Orphanet:1342"} synonym: "atriodigital dysplasia type 3" EXACT [Orphanet:1342] synonym: "brachydactyly and intraventricular conduction defect" RELATED [GARD:0002614] synonym: "Cardiomelic syndrome type 3" EXACT [Orphanet:1342] synonym: "heart-hand syndrome, Spanish type" EXACT [OMIM:140450, Orphanet:1342] synonym: "heart-limb syndrome type 3" EXACT [Orphanet:1342] synonym: "upper limb malformations and congenital cardiac anomalies" RELATED [GARD:0002614] xref: MESH:C535853 {source="MONDO:equivalentTo"} xref: OMIM:140450 {source="Orphanet:1342", source="MONDO:equivalentTo", source="Orphanet:1342/e"} xref: Orphanet:1342 {source="MONDO:equivalentTo", source="OMIM:140450"} xref: SCTID:721013001 {source="MONDO:equivalentTo"} xref: UMLS:C1841657 {source="Orphanet:1342", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:140450", source="Orphanet:1342/e"} is_a: MONDO:0007732 {source="DC-OMIM:140450"} ! Holt-Oram syndrome property_value: exactMatch http://identifiers.org/mesh/C535853 property_value: exactMatch http://identifiers.org/snomedct/721013001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1841657 property_value: exactMatch https://omim.org/entry/140450 property_value: exactMatch Orphanet:1342 [Term] id: MONDO:0007705 name: Heinz body anemia subset: ordo_disease {source="Orphanet:178330"} synonym: "Heinz body anemias" RELATED [OMIM:140700] synonym: "Heinz body anemias, alpha-" EXACT [OMIM:140700, OMIM:genemap2] xref: DOID:0111363 {source="MONDO:equivalentTo"} xref: HP:0005511 {source="MONDO:otherHierarchy"} xref: MedDRA:10002058 {source="Orphanet:178330", source="Orphanet:178330/e"} xref: MESH:C563030 {source="MONDO:equivalentTo"} xref: OMIM:140700 {source="Orphanet:178330", source="MONDO:equivalentTo", source="Orphanet:178330/e"} xref: Orphanet:178330 {source="OMIM:140700", source="MONDO:equivalentObsolete"} xref: UMLS:C0700299 {source="OMIM:140700", source="Orphanet:178330", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:178330/e"} is_a: MONDO:0004139 ! normocytic anemia property_value: closeMatch http://identifiers.org/meddra/10002058 property_value: exactMatch DOID:0111363 property_value: exactMatch http://identifiers.org/mesh/C563030 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0700299 property_value: exactMatch https://omim.org/entry/140700 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007706 name: cavernous hemangiomas of face-supraumbilical midline raphe syndrome subset: ordo_malformation_syndrome {source="Orphanet:2124"} synonym: "hemangiomas cavernous of face supraumbilical midline raphe" RELATED [GARD:0008524] synonym: "hemangiomas, cavernous, of face and supraumbilical MIDLINE raphe" RELATED [OMIM:140850] synonym: "raphe, supraumbilical Midline, with cavernous Facial hemangiomas" RELATED [OMIM:140850] synonym: "sternal nonunion with supraumbilical raphe" RELATED [OMIM:140850] synonym: "supraumbilical midabdominal raphe and facial cavernous hemangiomas" RELATED [GARD:0008524] xref: MESH:C538144 {source="MONDO:equivalentTo"} xref: OMIM:140850 {source="Orphanet:2124", source="MONDO:equivalentTo", source="Orphanet:2124/e"} xref: Orphanet:2124 {source="MONDO:equivalentObsolete", source="OMIM:140850"} xref: SCTID:234140000 {source="MONDO:equivalentTo"} xref: UMLS:C0472694 {source="Orphanet:2124", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2124/e", source="OMIM:140850"} is_a: EFO:0000508 {source="GARD:0008524", source="OMIM:140850", source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C538144 property_value: exactMatch http://identifiers.org/snomedct/234140000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0472694 property_value: exactMatch https://omim.org/entry/140850 [Term] id: MONDO:0007711 name: Bencze syndrome def: "Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979." [Orphanet:1241] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1241"} synonym: "Bencze syndrome" EXACT [GARD:0002633, OMIM:141350] synonym: "hemifacial hyperplasia strabismus" RELATED [GARD:0002633] synonym: "hemifacial hyperplasia with strabismus" RELATED [OMIM:141350] synonym: "hemifacial hyperplasia-strabismus syndrome" EXACT [Orphanet:1241] xref: MESH:C564199 {source="MONDO:equivalentTo"} xref: OMIM:141350 {source="Orphanet:1241", source="GARD:0002633", source="MONDO:equivalentTo", source="Orphanet:1241/e"} xref: Orphanet:1241 {source="GARD:0002633", source="MONDO:equivalentTo", source="OMIM:141350"} xref: SCTID:733046006 {source="MONDO:equivalentTo"} xref: UMLS:C1841640 {source="Orphanet:1241", source="GARD:0002633", source="MONDO:equivalentTo", source="OMIM:141350", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:1241"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability property_value: exactMatch http://identifiers.org/mesh/C564199 property_value: exactMatch http://identifiers.org/snomedct/733046006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1841640 property_value: exactMatch https://omim.org/entry/141350 property_value: exactMatch Orphanet:1241 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2633/hemifacial-hyperplasia-strabismus xsd:anyURI {source="GARD:0002633"} [Term] id: MONDO:0007712 name: oculoauriculovertebral spectrum with radial defects def: "Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported." [Orphanet:2549] subset: ordo_malformation_syndrome {source="Orphanet:2549"} synonym: "Goldenhar syndrome with ipsilateral radial defect" RELATED [OMIM:141400] synonym: "hemifacial microsomia with radial defects" RELATED [OMIM:141400] synonym: "hemifacial microsomia-radial defects syndrome" EXACT [Orphanet:2549] synonym: "microsomia hemifacial radial defects" RELATED [GARD:0003653] synonym: "Moeschler Clarren syndrome" RELATED [GARD:0003653] synonym: "Moeschler-Clarren syndrome" EXACT [Orphanet:2549] synonym: "Oavs with radial defect" RELATED [OMIM:141400] synonym: "oculoauriculovertebral spectrum with radial defect" RELATED [OMIM:141400] xref: OMIM:141400 {source="Orphanet:2549/e", source="MONDO:equivalentTo", source="Orphanet:2549"} xref: Orphanet:2549 {source="MONDO:equivalentTo", source="OMIM:141400"} xref: SCTID:726722009 {source="MONDO:equivalentTo"} is_a: MONDO:0015161 {source="Orphanet:2549"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015334 {source="Orphanet:2549"} ! branchial arch or oral-acral syndrome is_a: MONDO:0018454 {source="MONDO:0019710-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin property_value: exactMatch http://identifiers.org/snomedct/726722009 property_value: exactMatch https://omim.org/entry/141400 property_value: exactMatch Orphanet:2549 [Term] id: MONDO:0007716 name: alpha thalassemia-intellectual disability syndrome type 1 def: "Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities." [Orphanet:98791] subset: ordo_disease {source="Orphanet:98791"} synonym: "Alpha thalassemia-intellectual disability syndrome" EXACT [Orphanet:98791] synonym: "Alpha thalassemia-intellectual disability syndrome, deletion type" EXACT [Orphanet:98791] synonym: "alpha thalassemia-intellectual disability syndrome, deletion type" EXACT [DOID:0110029] synonym: "Alpha thalassemia-mental retardation syndrome" EXACT DEPRECATED [Orphanet:98791] synonym: "alpha thalassemia-retardation syndrome" EXACT [DOID:0110029] synonym: "alpha-thalassemia-intellectual disability syndrome linked to chromosome 16" EXACT [DOID:0110029] synonym: "Alpha-thalassemia-intellectual disability syndrome linked to chromosome type 16" EXACT [MONDORULE:2, Orphanet:98791] synonym: "ALPHA-thalassemia/intellectual disability syndrome, chromosome 16-related" RELATED [OMIM:141750] synonym: "Alpha-thalassemia/intellectual disability syndrome, deletion-type" RELATED [OMIM:141750] synonym: "alpha-thalassemia/intellectual disability syndrome, deletion-type" EXACT [DOID:0110029] synonym: "alpha-thalassemia/intellectual disability syndrome, type 1" EXACT [DOID:0110029] synonym: "ALPHA-thalassemia/mental retardation syndrome, chromosome 16-related" RELATED DEPRECATED [OMIM:141750] synonym: "Alpha-thalassemia/mental retardation syndrome, deletion-type" RELATED DEPRECATED [OMIM:141750] synonym: "alpha-thalassemia/mental retardation syndrome, deletion-type" EXACT DEPRECATED [DOID:0110029] synonym: "alpha-thalassemia/mental retardation syndrome, type 1" EXACT DEPRECATED [DOID:0110029] synonym: "ATR syndrome linked to chromosome 16" EXACT [DOID:0110029, Orphanet:98791] synonym: "ATR syndrome, deletion type" EXACT [DOID:0110029, Orphanet:98791] synonym: "ATR, deletion-type" RELATED [OMIM:141750] synonym: "ATR-16 syndrome" EXACT [DOID:0110029, OMIM:141750, Orphanet:98791] synonym: "chromosome 16P deletion syndrome" RELATED [OMIM:141750] synonym: "Haemoglobin H-related intellectual disability" RELATED OMO:0003005 [] synonym: "Haemoglobin H-related mental retardation" RELATED OMO:0003005 [] synonym: "Hemoglobin H-related intellectual disability" RELATED [OMIM:141750] synonym: "Hemoglobin H-related mental retardation" RELATED DEPRECATED [OMIM:141750] synonym: "intellectual disability with Haemoglobin H" RELATED OMO:0003005 [] synonym: "intellectual disability with Hemoglobin H" RELATED [OMIM:141750] synonym: "mental retardation with Haemoglobin H" RELATED OMO:0003005 [] synonym: "mental retardation with Hemoglobin H" RELATED DEPRECATED [OMIM:141750] xref: DECIPHER:65 {source="MONDO:equivalentTo"} xref: DOID:0110029 {source="MONDO:equivalentTo"} xref: ICD10CM:D56.0 {source="DOID:0110029", source="MONDO:relatedTo", source="Orphanet:98791/attributed", source="Orphanet:98791/ntbt", source="Orphanet:98791"} xref: ICD9:282.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563050 {source="MONDO:equivalentTo"} xref: OMIM:141750 {source="DOID:0110029", source="Orphanet:98791/e", source="MONDO:equivalentTo", source="Orphanet:98791"} xref: Orphanet:98791 {source="DOID:0110029", source="MONDO:equivalentTo", source="OMIM:141750"} xref: SCTID:277918006 {source="MONDO:equivalentTo"} xref: UMLS:C0475813 {source="Orphanet:98791/e", source="MONDO:equivalentTo", source="Orphanet:98791"} xref: UMLS:C0795917 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:141750", source="Orphanet:98791"} is_a: MONDO:0016513 {source="Orphanet:98791"} ! alpha-thalassemia-related diseases is_a: MONDO:0016894 {source="Orphanet:98791"} ! partial deletion of the short arm of chromosome 16 property_value: exactMatch DOID:0110029 property_value: exactMatch http://identifiers.org/mesh/C563050 property_value: exactMatch http://identifiers.org/snomedct/277918006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0475813 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795917 property_value: exactMatch https://omim.org/entry/141750 property_value: exactMatch Orphanet:98791 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:98791"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0007724 name: hirsutism-skeletal dysplasia-intellectual disability syndrome subset: ordo_malformation_syndrome {source="Orphanet:2156"} synonym: "hirsutism skeletal dysplasia intellectual disability syndrome" RELATED [GARD:0005566] synonym: "hirsutism skeletal dysplasia mental retardation syndrome" RELATED DEPRECATED [GARD:0005566] synonym: "hirsutism, skeletal dysplasia, and intellectual disability" RELATED [OMIM:142625] synonym: "hirsutism, skeletal dysplasia, and mental retardation" RELATED DEPRECATED [OMIM:142625] synonym: "Wiedemann Oldigs Oppermann syndrome" RELATED [GARD:0005566] synonym: "Wiedemann-Oldigs-Oppermann syndrome" EXACT [Orphanet:2156] xref: MESH:C536705 {source="MONDO:equivalentTo"} xref: OMIM:142625 {source="Orphanet:2156", source="MONDO:equivalentTo", source="Orphanet:2156/e"} xref: Orphanet:2156 {source="OMIM:142625", source="MONDO:equivalentObsolete"} xref: UMLS:C0795976 {source="Orphanet:2156", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2156/e"} is_a: MONDO:0015159 {source="Orphanet:2156"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C536705 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795976 property_value: exactMatch https://omim.org/entry/142625 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2156"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0007726 name: hip dysplasia, Beukes type def: "Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing." [Orphanet:2114] subset: ordo_disease {source="Orphanet:2114"} synonym: "Beukes familial hip dysplasia" EXACT [OMIM:142669, Orphanet:2114] synonym: "Beukes hip dysplasia" RELATED [MONDO:Lexical, OMIM:142669] synonym: "BFHD" EXACT ABBREVIATION [Orphanet:2114] synonym: "BHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:142669] synonym: "Cilliers-Beighton syndrome" EXACT [Orphanet:2114] synonym: "hip dysplasia Beukes type" RELATED [GARD:0002690] synonym: "hip dysplasia, Beukes type" EXACT [OMIM:142669] synonym: "osteoarthropathy, premature degenerative, of hip" RELATED [OMIM:142669] synonym: "premature degenerative osteoarthropathy of the hip" EXACT [Orphanet:2114] xref: DOID:0111367 {source="MONDO:equivalentTo"} xref: MESH:C564185 {source="MONDO:equivalentTo"} xref: OMIM:142669 {source="Orphanet:2114", source="MONDO:equivalentTo", source="Orphanet:2114/e"} xref: Orphanet:2114 {source="OMIM:142669", source="MONDO:equivalentTo"} xref: SCTID:721148005 {source="MONDO:equivalentTo"} is_a: MONDO:0016761 {source="PMID:31633310"} ! spondyloepiphyseal dysplasia is_a: MONDO:0019692 {source="Orphanet:2114"} ! multiple epiphyseal dysplasia and pseudoachondroplasia property_value: exactMatch DOID:0111367 property_value: exactMatch http://identifiers.org/mesh/C564185 property_value: exactMatch http://identifiers.org/snomedct/721148005 property_value: exactMatch https://omim.org/entry/142669 property_value: exactMatch Orphanet:2114 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0007727 name: autosomal dominant familial periodic fever def: "Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis." [Orphanet:32960] subset: ordo_disease {source="Orphanet:32960"} synonym: "familial Hibernian fever" EXACT [DOID:0090018, OMIM:142680, Orphanet:32960] synonym: "FHF" RELATED ABBREVIATION [GARD:0008457] synonym: "FPF" RELATED ABBREVIATION [OMIM:142680] synonym: "Hibernian fever, familial" RELATED [OMIM:142680] synonym: "periodic FEVER, familial, autosomal dominant" RELATED [OMIM:142680] synonym: "TNF receptor 1-associated periodic syndrome" EXACT [DOID:0090018, Orphanet:32960] synonym: "TNF receptor-associated periodic fever syndrome" RELATED [GARD:0008457] synonym: "TNF receptor-associated periodic syndrome" RELATED [OMIM:142680] synonym: "TRAPS" EXACT ABBREVIATION [NCIT:C119051] synonym: "TRAPS syndrome" EXACT [Orphanet:32960] synonym: "tumor necrosis factor receptor 1 associated periodic syndrome" EXACT [DOID:0090018] synonym: "tumor necrosis factor receptor 1-associated periodic syndrome" EXACT [NCIT:C119051] synonym: "tumor necrosis factor receptor-associated periodic syndrome" RELATED [OMIM:142680] synonym: "tumour necrosis factor receptor 1 associated periodic syndrome" EXACT OMO:0003005 [] synonym: "tumour necrosis factor receptor 1-associated periodic syndrome" EXACT OMO:0003005 [] synonym: "tumour necrosis factor receptor-associated periodic syndrome" RELATED OMO:0003005 [] xref: DOID:0090018 {source="MONDO:equivalentTo"} xref: MESH:C536657 {source="MONDO:equivalentTo"} xref: NCIT:C119051 {source="MONDO:equivalentTo"} xref: OMIM:142680 {source="Orphanet:32960", source="MONDO:equivalentTo", source="Orphanet:32960/e", source="DOID:0090018"} xref: Orphanet:32960 {source="MONDO:equivalentTo", source="OMIM:142680", source="DOID:0090018"} xref: SCTID:403833009 {source="MONDO:equivalentTo"} is_a: MONDO:0015135 ! primary immunodeficiency due to a genetic defect in innate immunity is_a: MONDO:0017953 {source="MESH:C536657", source="Orphanet:32960"} ! hereditary periodic fever syndrome property_value: exactMatch DOID:0090018 property_value: exactMatch http://identifiers.org/mesh/C536657 property_value: exactMatch http://identifiers.org/snomedct/403833009 property_value: exactMatch https://omim.org/entry/142680 property_value: exactMatch NCIT:C119051 property_value: exactMatch Orphanet:32960 property_value: excluded_subClassOf MONDO:0007179 {source="DOID:0090018"} [Term] id: MONDO:0007728 name: acne inversa, familial, 1 def: "Any familial acne inversa in which the cause of the disease is a mutation in the NCSTN gene." [MONDO:patterns/disease_series_by_gene] synonym: "acne inversa, familial" RELATED [OMIM:142690] synonym: "acne inversa, familial, 1" EXACT [MONDO:Lexical, OMIM:142690] synonym: "acne inversa, familial, type 1" EXACT [MONDORULE:1, OMIM:142690] synonym: "ACNINV1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:142690] synonym: "familial acne inversa caused by mutation in NCSTN" EXACT [MONDO:design_pattern] synonym: "hidradenitis suppurativa, familial" RELATED [OMIM:142690] synonym: "NCSTN familial acne inversa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: OMIM:142690 {source="MONDO:equivalentTo"} xref: UMLS:CN028850 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0024516 {source="MONDO:Redundant", source="OMIM:142690"} ! familial acne inversa property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN028850 property_value: exactMatch https://omim.org/entry/142690 [Term] id: MONDO:0007732 name: Holt-Oram syndrome def: "Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." [Orphanet:392] subset: ordo_malformation_syndrome {source="Orphanet:392"} synonym: "atrio digital syndrome" BROAD [GARD:0006666] synonym: "atrio-digital syndrome" BROAD [DOID:0060468] synonym: "atriodigital dysplasia" BROAD [DOID:0060468, OMIM:142900] synonym: "atriodigital dysplasia type 1" EXACT [Orphanet:392] synonym: "Cardiac-limb syndrome" RELATED [GARD:0006666] synonym: "heart-hand syndrome" BROAD [DOID:0060468, OMIM:142900] synonym: "heart-hand syndrome type 1" EXACT [Orphanet:392] synonym: "heart-hand syndrome, type 1" RELATED [GARD:0006666] synonym: "HOLT-Oram syndrome" RELATED [OMIM:142900] synonym: "Holt-Oram syndrome" EXACT [MONDO:Lexical, OMIM:142900] synonym: "HOS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:142900, Orphanet:392] synonym: "HOS 1" RELATED [GARD:0006666] synonym: "Hos1" RELATED [OMIM:142900] synonym: "ventriculo-radial syndrome" RELATED [GARD:0006666] xref: DOID:0060468 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10050469 {source="Orphanet:392", source="Orphanet:392/e"} xref: MESH:C535326 {source="DOID:0060468", source="MONDO:equivalentTo", source="Orphanet:392", source="Orphanet:392/e"} xref: NCIT:C125592 {source="MONDO:equivalentTo"} xref: OMIM:142900 {source="DOID:0060468", source="MONDO:equivalentTo", source="Orphanet:392", source="Orphanet:392/e"} xref: Orphanet:392 {source="OMIM:142900", source="DOID:0060468", source="MONDO:equivalentTo"} xref: SCTID:19092004 {source="DOID:0060468", source="MONDO:equivalentTo"} xref: UMLS:C0265264 {source="OMIM:142900", source="NCIT:C125592", source="DOID:0060468", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:392", source="Orphanet:392/e"} is_a: EFO:0003777 {source="MONDO:0015506-obsoleted"} ! heart disease is_a: MONDO:0000426 {source="DOID:0060468", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C125592"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:392"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0016432 {source="Orphanet:392"} ! heart-hand syndrome is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect property_value: closeMatch http://identifiers.org/meddra/10050469 property_value: exactMatch DOID:0060468 property_value: exactMatch http://identifiers.org/mesh/C535326 property_value: exactMatch http://identifiers.org/snomedct/19092004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265264 property_value: exactMatch https://omim.org/entry/142900 property_value: exactMatch NCIT:C125592 property_value: exactMatch Orphanet:392 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0007733 name: holoprosencephaly 3 def: "Any holoprosencephaly in which the cause of the disease is a mutation in the SHH gene." [MONDO:patterns/disease_series_by_gene] synonym: "HLP3" EXACT ABBREVIATION [DOID:0110875] synonym: "Hlp3" RELATED [OMIM:142945] synonym: "holoprosencephaly 3" EXACT [MONDO:Lexical, OMIM:142945] synonym: "holoprosencephaly caused by mutation in SHH" EXACT [] synonym: "holoprosencephaly caused by mutation in Shh" EXACT [MONDO:design_pattern] synonym: "holoprosencephaly type 3" EXACT [DOID:0110875, MONDORULE:1, OMIM:142945] synonym: "HPE3" EXACT ABBREVIATION [DOID:0110875, MONDO:Lexical, OMIM:142945] synonym: "SHH holoprosencephaly" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Shh holoprosencephaly" EXACT [MONDO:design_pattern] xref: DOID:0110875 {source="MONDO:equivalentTo"} xref: MESH:C564181 {source="MONDO:equivalentTo"} xref: OMIM:142945 {source="DOID:0110875", source="MONDO:equivalentTo"} xref: UMLS:C1840529 {source="OMIM:142945", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0016296 {source="DC-OMIM:142945", source="DOID:0110875", source="MESH:C564181", source="MONDO:Redundant", source="OMIM:142945"} ! holoprosencephaly property_value: exactMatch DOID:0110875 property_value: exactMatch http://identifiers.org/mesh/C564181 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840529 property_value: exactMatch https://omim.org/entry/142945 [Term] id: MONDO:0007735 name: congenital Horner syndrome def: "Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported." [Orphanet:91413] subset: ordo_disease {source="Orphanet:91413"} synonym: "congenital Claude-Bernard-Horner syndrome" EXACT [Orphanet:91413] synonym: "congenital Horner syndrome" EXACT [MONDO:ambiguous] synonym: "congenital Horner syndrome (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "HORNER syndrome, congenital" RELATED [OMIM:143000] xref: HP:0006837 {source="MONDO:otherHierarchy"} xref: MESH:C564178 {source="MONDO:equivalentTo"} xref: OMIM:143000 {source="Orphanet:91413/e", source="MONDO:equivalentTo", source="Orphanet:91413"} xref: Orphanet:91413 {source="MONDO:equivalentTo", source="OMIM:143000"} xref: UMLS:C1840475 {source="MONDO:equivalentTo", source="OMIM:143000", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:91413"} is_a: MONDO:0020158 {source="MONDO:0020169-obsoleted"} ! eyelids malposition disorder property_value: exactMatch http://identifiers.org/mesh/C564178 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840475 property_value: exactMatch https://omim.org/entry/143000 property_value: exactMatch Orphanet:91413 property_value: IAO:0000589 "congenital Horner syndrome (disease)" xsd:string [Term] id: MONDO:0007737 name: humeroradial synostosis def: "Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present." [Orphanet:3265] subset: ordo_morphological_anomaly {source="Orphanet:3265"} synonym: "humero-radial fusion" EXACT [DOID:0060467, Orphanet:3265] synonym: "humero-radial synostosis" RELATED [Orphanet:3265] synonym: "humeroradial synostosis" EXACT [MONDO:ambiguous] synonym: "humeroradial synostosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0060467 {source="MONDO:equivalentTo"} xref: HP:0003041 {source="MONDO:otherHierarchy"} xref: ICD9:755.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:143050 {source="Orphanet:3265", source="MONDO:equivalentTo", source="DOID:0060467", source="Orphanet:3265/e"} xref: Orphanet:3265 {source="OMIM:143050", source="MONDO:equivalentTo", source="DOID:0060467"} xref: SCTID:205329008 {source="MONDO:equivalentTo"} is_a: MONDO:0017429 {source="Orphanet:3265"} ! joint formation defects property_value: exactMatch DOID:0060467 property_value: exactMatch http://identifiers.org/snomedct/205329008 property_value: exactMatch https://omim.org/entry/143050 property_value: exactMatch Orphanet:3265 property_value: IAO:0000589 "humeroradial synostosis (disease)" xsd:string [Term] id: MONDO:0007738 name: spondyloepiphyseal dysplasia with congenital joint dislocations def: "CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal." [Orphanet:263463] subset: gard_rare subset: ordo_disease {source="Orphanet:263463"} synonym: "bifurcation of distal humerus with oligoectro-syndactyly" RELATED [GARD:0002533, MESH:C537283] synonym: "chondrodysplasia with congenital joint dislocations, CHST3 type" EXACT [Orphanet:263463] synonym: "chondrodysplasia with multiple dislocations" EXACT [DOID:0050813, OMIM:143095] synonym: "CHST3-related skeletal dysplasia" EXACT [DOID:0050813] synonym: "Gollop Coates syndrome" RELATED [GARD:0002533] synonym: "humero-spinal dysostosis with congenital heart disease" EXACT [DOID:0050813] synonym: "Humerospinal dysostosis" EXACT [DOID:0050813, OMIM:143095] synonym: "Kozlowski Celermajer tink syndrome" EXACT [DOID:0050813] synonym: "Omani type" EXACT [DOID:0050813] synonym: "SDCD, CHST3 type" EXACT [Orphanet:263463] synonym: "SEDCJD" RELATED ABBREVIATION [OMIM:143095] synonym: "spondyloepiphyseal dysplasia" BROAD [DOID:0050813] synonym: "spondyloepiphyseal dysplasia with congenital JOINT dislocations" RELATED [OMIM:143095] synonym: "spondyloepiphyseal dysplasia with congenital joint dislocations" EXACT [OMIM:143095] synonym: "spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type" EXACT [Orphanet:263463] synonym: "spondyloepiphyseal dysplasia, Omani type" RELATED [OMIM:143095] xref: DOID:0050813 {source="MONDO:equivalentTo"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537283 {source="MONDO:equivalentTo"} xref: OMIM:143095 {source="GARD:0002533", source="Orphanet:263463", source="MONDO:equivalentTo", source="DOID:0050813", source="Orphanet:263463/e"} xref: Orphanet:263463 {source="OMIM:143095", source="MONDO:equivalentTo"} xref: SCTID:702400006 {source="MONDO:equivalentTo"} is_a: MONDO:0016761 {source="DOID:0050813"} ! spondyloepiphyseal dysplasia is_a: MONDO:0017742 {source="Orphanet:263463"} ! disorder of O-xylosylglycan synthesis is_a: MONDO:0018292 {source="Orphanet:263463"} ! congenital disorder of glycosylation-related bone disorder is_a: MONDO:0019688 {source="PMID:31633310"} ! sulfation-related bone disorder property_value: exactMatch DOID:0050813 property_value: exactMatch http://identifiers.org/mesh/C537283 property_value: exactMatch http://identifiers.org/snomedct/702400006 property_value: exactMatch https://omim.org/entry/143095 property_value: exactMatch Orphanet:263463 property_value: excluded_subClassOf MONDO:0019700 {source="Orphanet:263463"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2533/gollop-coates-syndrome xsd:anyURI {source="GARD:0002533"} [Term] id: MONDO:0007739 name: Huntington disease def: "Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." [Orphanet:399] subset: ordo_disease {source="Orphanet:399"} synonym: "HD" EXACT ABBREVIATION [DOID:12858, MONDO:Lexical, OMIM:143100] synonym: "Huntington chorea" EXACT [OMIM:143100, Orphanet:399] synonym: "Huntington disease" EXACT [DOID:12858, MONDO:Lexical, OMIM:143100] synonym: "Huntington's chorea" EXACT [DOID:12858, ICD9CM:333.4] synonym: "Huntington's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] xref: DOID:12858 {source="MONDO:equivalentTo"} xref: ICD9:333.4 {source="DOID:12858", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10070668 {source="Orphanet:399/e", source="Orphanet:399"} xref: MESH:D006816 {source="https://orcid.org/0000-0003-1967-3726", source="DOID:12858", source="Orphanet:399/e", source="MONDO:equivalentTo", source="Orphanet:399"} xref: NCIT:C82342 {source="DOID:12858", source="MONDO:equivalentTo"} xref: OMIM:143100 {source="DOID:12858", source="Orphanet:399/e", source="MONDO:equivalentTo", source="Orphanet:399"} xref: Orphanet:399 {source="MONDO:equivalentTo", source="OMIM:143100"} xref: SCTID:58756001 {source="DOID:12858", source="MONDO:equivalentTo"} xref: UMLS:C0020179 {source="DOID:12858", source="Orphanet:399/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:143100", source="NCIT:C82342", source="Orphanet:399"} is_a: EFO:0004280 ! movement disorder is_a: MONDO:0000167 {source="MONDO:cjm"} ! Huntington disease and related disorders relationship: disease_has_feature MONDO:0001627 {source="MONDO:Wikidata"} ! dementia relationship: has_characteristic MONDO:0021136 ! rare property_value: closeMatch http://identifiers.org/meddra/10070668 property_value: closeMatch http://identifiers.org/meddra/10070668 property_value: exactMatch DOID:12858 property_value: exactMatch DOID:12858 property_value: exactMatch http://identifiers.org/mesh/D006816 property_value: exactMatch http://identifiers.org/mesh/D006816 property_value: exactMatch http://identifiers.org/snomedct/58756001 property_value: exactMatch http://identifiers.org/snomedct/58756001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020179 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020179 property_value: exactMatch https://omim.org/entry/143100 property_value: exactMatch https://omim.org/entry/143100 property_value: exactMatch NCIT:C82342 property_value: exactMatch NCIT:C82342 property_value: exactMatch Orphanet:399 property_value: exactMatch Orphanet:399 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0007740 name: Wagner disease def: "Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment." [Orphanet:898] subset: ordo_disease {source="Orphanet:898"} synonym: "dominant hyaloideoretinal dystrophy of Wagner" EXACT [Orphanet:898] synonym: "erosive vitreoretinopathy" RELATED [OMIM:143200] synonym: "ERVR" RELATED ABBREVIATION [GARD:0007871] synonym: "hyaloideoretinal Degeneration of Wagner" RELATED [OMIM:143200] synonym: "VCAN-related vitreoretinopathy" EXACT [Orphanet:898] synonym: "vitreoretinal degeneration, Wagner type" EXACT [Orphanet:898] synonym: "Wagner disease" EXACT [] synonym: "Wagner disease (formerly)" RELATED [GARD:0007871] synonym: "Wagner syndrome" EXACT [Orphanet:898] synonym: "Wagner syndrome 1" RELATED [OMIM:143200] synonym: "Wagner syndrome type 1" RELATED [GARD:0007871] synonym: "Wagner vitreoretinal Degeneration" RELATED [OMIM:143200] synonym: "Wagner vitreoretinopathy" RELATED [MONDO:Lexical, OMIM:143200] synonym: "WGN1" RELATED ABBREVIATION [GARD:0007871] synonym: "WGVRP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:143200] xref: ICD10CM:H35.5 {source="Orphanet:898", source="MONDO:relatedTo", source="Orphanet:898/attributed", source="Orphanet:898/ntbt"} xref: MedDRA:10063383 {source="Orphanet:898", source="Orphanet:898/e"} xref: MESH:C536075 {source="Orphanet:898", source="MONDO:equivalentTo", source="Orphanet:898/e"} xref: OMIM:143200 {source="Orphanet:898", source="MONDO:equivalentTo", source="Orphanet:898/e"} xref: Orphanet:898 {source="MONDO:equivalentTo", source="OMIM:143200"} xref: SCTID:232064001 {source="MONDO:equivalentTo"} xref: UMLS:C1840452 {source="Orphanet:898", source="MONDO:equivalentTo", source="OMIM:143200", source="Orphanet:898/e"} is_a: MONDO:0020248 {source="Orphanet:898", source="https://orcid.org/0000-0001-5208-3432"} ! vitreoretinal degeneration property_value: closeMatch http://identifiers.org/meddra/10063383 property_value: exactMatch http://identifiers.org/mesh/C536075 property_value: exactMatch http://identifiers.org/snomedct/232064001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840452 property_value: exactMatch https://omim.org/entry/143200 property_value: exactMatch Orphanet:898 [Term] id: MONDO:0007741 name: congenital hydronephrosis def: "Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy." [Orphanet:2190] comment: Editor note: TODO check relationship to OMIM:143400 subset: ordo_morphological_anomaly {source="Orphanet:2190"} xref: ICD10CM:Q62.0 {source="MONDO:equivalentTo", source="Orphanet:2190/specific", source="Orphanet:2190", source="Orphanet:2190/e"} xref: ICD9:753.29 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10050975 {source="Orphanet:2190", source="Orphanet:2190/e"} xref: NCIT:C102979 {source="MONDO:equivalentTo"} xref: Orphanet:2190 {source="MONDO:equivalentObsolete", source="OMIM:143400"} xref: SCTID:16297002 {source="MONDO:equivalentTo"} xref: UMLS:C0266316 {source="NCIT:C102979", source="MONDO:equivalentTo", source="Orphanet:2190", source="Orphanet:2190/e"} is_a: EFO:0005562 {source="NCIT:C102979"} ! hydronephrosis is_a: MONDO:0019720 {source="Orphanet:2190"} ! non-syndromic renal or urinary tract malformation relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: closeMatch http://identifiers.org/meddra/10050975 property_value: exactMatch http://identifiers.org/snomedct/16297002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266316 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q62.0 property_value: exactMatch NCIT:C102979 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0007744 name: cholesterol-ester transfer protein deficiency subset: ordo_disease {source="Orphanet:79506"} synonym: "CEPT deficiency" EXACT [Orphanet:79506] synonym: "CETP deficiency" RELATED [OMIM:143470] synonym: "cholesterol ester transfer Protein deficiency" RELATED [OMIM:143470] synonym: "familial hyperalphalipoproteinemia" EXACT [Orphanet:79506] synonym: "HALP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:143470] synonym: "Hdlcq10" RELATED [OMIM:143470] synonym: "high density lipoprotein cholesterol level QTL 10" EXACT [OMIM:143470, OMIM:genemap2] synonym: "high density lipoprotein cholesterol level quantitative trait locus 10" RELATED [OMIM:143470] synonym: "hyperalphalipoproteinemia" BROAD [OMIM:143470, OMIM:genemap2] synonym: "hyperalphalipoproteinemia 1" EXACT [MONDO:Lexical, OMIM:143470] synonym: "hyperalphalipoproteinemia type 1" EXACT [MONDORULE:1, OMIM:143470] xref: DOID:0111368 {source="MONDO:mondoIsNarrowerThanSource"} xref: DOID:0111369 {source="MONDO:equivalentTo"} xref: OMIM:143470 {source="Orphanet:79506", source="MONDO:equivalentTo", source="Orphanet:79506/e"} xref: Orphanet:79506 {source="OMIM:143470", source="MONDO:equivalentTo"} xref: SCTID:15771000119109 {source="MONDO:equivalentTo"} xref: UMLS:C3875011 {source="MONDO:equivalentTo"} xref: UMLS:CN205999 {source="MONDO:equivalentTo"} is_a: MONDO:0015903 {source="Orphanet:79506"} ! hyperalphalipoproteinemia property_value: broadMatch DOID:0111368 property_value: exactMatch DOID:0111369 property_value: exactMatch http://identifiers.org/snomedct/15771000119109 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3875011 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205999 property_value: exactMatch https://omim.org/entry/143470 property_value: exactMatch Orphanet:79506 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007747 name: isolated hyperchlorhidrosis subset: ordo_disease synonym: "hyperchlorhidrosis, isolated" EXACT [OMIM:143860] synonym: "isolated hyperchlorhidrosis" EXACT [] xref: DOID:0111371 {source="MONDO:equivalentTo"} xref: ICD9:276.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:143860 {source="MONDO:equivalentTo", source="Orphanet:542657"} xref: Orphanet:542657 {source="MONDO:equivalentTo"} xref: SCTID:709413001 {source="MONDO:equivalentTo"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0021026 {source="Orphanet:542657"} ! hereditary epidermal appendage anomaly property_value: exactMatch DOID:0111371 property_value: exactMatch http://identifiers.org/snomedct/709413001 property_value: exactMatch https://omim.org/entry/143860 property_value: exactMatch Orphanet:542657 [Term] id: MONDO:0007750 name: hypercholesterolemia, familial, 1 synonym: "FHC" RELATED ABBREVIATION [OMIM:143890] synonym: "FHCL1" EXACT ABBREVIATION [OMIM:143890] synonym: "hyper-low-density-lipoproteinemia" RELATED [OMIM:143890] synonym: "hypercholesterolemia, familial" EXACT [OMIM:143890] synonym: "hypercholesterolemia, familial, 1" EXACT [] synonym: "hypercholesterolemia, familial, due to ldlr defect, modifier of" EXACT [OMIM:143890, OMIM:genemap2] synonym: "hypercholesterolemia, familial, modifier of" EXACT [OMIM:143890, OMIM:genemap2] synonym: "hypercholesterolemia, susceptibility to" RELATED [OMIM:143890, OMIM:genemap2] synonym: "hypercholesterolemic xanthomatosis, familial" EXACT [OMIM:143890] synonym: "hyperlipoproteinemia, type 2" EXACT [OMIM:143890] synonym: "hyperlipoproteinemia, type 2A" EXACT [OMIM:143890] synonym: "LDL cholesterol level QTL2" EXACT [OMIM:143890, OMIM:genemap2] synonym: "LDL receptor disorder" EXACT [OMIM:143890] synonym: "low density lipoprotein cholesterol level quantitative trait locus 2" RELATED [OMIM:143890] xref: OMIM:143890 {source="MONDO:equivalentTo"} xref: SCTID:398036000 {source="MONDO:equivalentTo"} is_a: EFO:0004911 {source="DC-OMIM:143890", source="MONDO:cjm"} ! familial hypercholesterolemia property_value: exactMatch http://identifiers.org/snomedct/398036000 property_value: exactMatch https://omim.org/entry/143890 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4882 xsd:anyURI [Term] id: MONDO:0007751 name: hypercholesterolemia, autosomal dominant, type B synonym: "apolipoprotein B-100, familial defective" RELATED [OMIM:144010] synonym: "apolipoprotein B-100, familial ligand-defective" RELATED [OMIM:144010] synonym: "hypercholesterolemia, autosomal dominant, type B" EXACT [OMIM:144010] synonym: "hypercholesterolemia, familial, 2" EXACT [OMIM:144010, OMIM:genemap2] synonym: "hypercholesterolemia, familial, due to ligand-defective apolipoprotein B" RELATED [OMIM:144010] xref: OMIM:144010 {source="MONDO:equivalentTo"} xref: SCTID:238081000 {source="MONDO:equivalentTo"} is_a: EFO:0004911 {source="DC-OMIM:144010"} ! familial hypercholesterolemia property_value: exactMatch http://identifiers.org/snomedct/238081000 property_value: exactMatch https://omim.org/entry/144010 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007756 name: hyperkeratosis lenticularis perstans subset: ordo_disease {source="Orphanet:409"} synonym: "Flegel disease" EXACT [OMIM:144150, Orphanet:409] synonym: "Flegel's disease" RELATED [GARD:0002824] synonym: "HLP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:144150] synonym: "hyperkeratosis lenticularis perstans" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:144150] synonym: "hyperkeratosis lenticularis perstans (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "hyperkeratosis lenticularis perstans of Flegel" RELATED [GARD:0002824] xref: HP:0007570 {source="MONDO:otherHierarchy"} xref: MedDRA:10071311 {source="Orphanet:409", source="Orphanet:409/e"} xref: MESH:C538377 {source="MONDO:equivalentTo", source="Orphanet:409", source="Orphanet:409/e"} xref: OMIM:144150 {source="MONDO:equivalentTo", source="Orphanet:409", source="Orphanet:409/e"} xref: Orphanet:409 {source="OMIM:144150", source="MONDO:equivalentTo"} xref: SCTID:28488007 {source="MONDO:equivalentTo"} xref: UMLS:C0263420 {source="OMIM:144150", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:409", source="Orphanet:409/e"} is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease property_value: closeMatch http://identifiers.org/meddra/10071311 property_value: exactMatch http://identifiers.org/mesh/C538377 property_value: exactMatch http://identifiers.org/snomedct/28488007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263420 property_value: exactMatch https://omim.org/entry/144150 property_value: exactMatch Orphanet:409 property_value: IAO:0000589 "hyperkeratosis lenticularis perstans (disease)" xsd:string [Term] id: MONDO:0007757 name: hyperkeratosis-hyperpigmentation syndrome def: "Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993." [Orphanet:1336] subset: ordo_disease {source="Orphanet:1336"} synonym: "hyperkeratosis-hyperpigmentation syndrome" EXACT [OMIM:144190] xref: MESH:C564172 {source="MONDO:equivalentTo"} xref: OMIM:144190 {source="MONDO:equivalentTo", source="Orphanet:1336", source="Orphanet:1336/e"} xref: Orphanet:1336 {source="MONDO:equivalentTo", source="OMIM:144190"} xref: UMLS:C1840428 {source="MONDO:equivalentTo", source="Orphanet:1336", source="MONDO:ncbi_mim2gene_medline", source="OMIM:144190"} is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0019289 {source="Orphanet:1336"} ! hyperpigmentation of the skin is_a: MONDO:0100118 ! hereditary skin disorder property_value: exactMatch http://identifiers.org/mesh/C564172 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840428 property_value: exactMatch https://omim.org/entry/144190 property_value: exactMatch Orphanet:1336 [Term] id: MONDO:0007758 name: epidermolytic palmoplantar keratoderma def: "A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas." [NCIT:C84693] subset: gard_rare subset: ordo_disease {source="Orphanet:2199"} synonym: "diffuse erythrodermic palmoplantar keratoderma, VC6rner type" EXACT [Orphanet:2199] synonym: "diffuse erythrodermic palmoplantar keratoderma, Voerner type" EXACT [Orphanet:2199] synonym: "diffuse erythrodermic palmoplantar keratoderma, Vörner type" RELATED [GARD:0002826] synonym: "epidermolytic palmoplantar keratoderma of VC6rner" EXACT [Orphanet:2199] synonym: "epidermolytic palmoplantar keratoderma of Voerner" EXACT [GARD:0002826, Orphanet:2199] synonym: "epidermolytic palmoplantar keratoderma of Vörner" RELATED [GARD:0002826] synonym: "EPPK" EXACT ABBREVIATION [GARD:0002826, MONDO:Lexical, OMIM:144200, Orphanet:2199] synonym: "hyperkeratosis palmoplantar localised epidermolytic" RELATED OMO:0003005 [] synonym: "hyperkeratosis palmoplantar localized epidermolytic" RELATED [GARD:0002826] synonym: "hyperkeratosis, localised epidermolytic" RELATED OMO:0003005 [] synonym: "hyperkeratosis, localized epidermolytic" RELATED [OMIM:144200] synonym: "keratoderma, epidermolytic palmoplantar" RELATED [OMIM:144200] synonym: "keratosis of Greither" RELATED [OMIM:144200] synonym: "keratosis palmaris Et plantaris Familiaris" RELATED [OMIM:144200] synonym: "palmoplantar keratoderma, epidermolytic" RELATED [MONDO:Lexical, OMIM:144200] synonym: "palmoplantar keratoderma, epidermolytic, with knuckle pads" RELATED [OMIM:144200] synonym: "palmoplantar keratoderma, Vorner type" RELATED [OMIM:144200] synonym: "Ppke" RELATED [OMIM:144200] synonym: "tylosis" RELATED [OMIM:144200] xref: DOID:0080223 {source="MONDO:equivalentTo"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C84693 {source="MONDO:equivalentTo"} xref: OMIM:144200 {source="Orphanet:2199", source="MONDO:equivalentTo", source="Orphanet:2199/e", source="DOID:0080223"} xref: Orphanet:2199 {source="MONDO:equivalentTo", source="OMIM:144200", source="GARD:0002826"} xref: SCTID:399955009 {source="MONDO:equivalentTo"} xref: UMLS:C1721006 {source="Orphanet:2199", source="MONDO:equivalentTo", source="Orphanet:2199/e", source="MONDO:ncbi_mim2gene_medline", source="OMIM:144200", source="NCIT:C84693"} is_a: MONDO:0020093 {source="Orphanet:2199"} ! autosomal dominant isolated diffuse palmoplantar keratoderma property_value: exactMatch DOID:0080223 property_value: exactMatch http://identifiers.org/snomedct/399955009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1721006 property_value: exactMatch https://omim.org/entry/144200 property_value: exactMatch NCIT:C84693 property_value: exactMatch Orphanet:2199 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2826/epidermolytic-palmoplantar-keratoderma xsd:anyURI {source="GARD:0002826"} [Term] id: MONDO:0007761 name: obsolete hyperlipoproteinemia type IV def: "OBSOLETE. A laboratory test result indicating an autosomal dominant condition in which there is increased very low density lipoprotein production, which leads to increased triglyceride concentration." [NCIT:P378] subset: gard_rare {source="GARD:0006418"} synonym: "carbohydrate inducible hyperlipemia" RELATED [GARD:0006418] synonym: "carbohydrate-inducible hyperlipemia" RELATED [OMIM:144600] synonym: "endogenous hyperlipidaemia" EXACT [DOID:1172] synonym: "familial hypertriglyceridemia" BROAD [DOID:1172, Orphanet:413] synonym: "familial type IV hyperlipoproteinemia" RELATED [GARD:0006418] synonym: "Fredrickson type IV hyperlipoproteinemia" RELATED [DOID:1172] synonym: "Fredrickson type IV lipidaemia" RELATED [DOID:1172] synonym: "Fredrickson type IV Lipidemia" RELATED [DOID:1172, NCIT:C34711] synonym: "hyperlipoproteinemia type 4" RELATED [GARD:0006418] synonym: "hyperlipoproteinemia, type 4" RELATED [OMIM:144600] synonym: "hyperlipoproteinemia, type IV" RELATED [OMIM:144600] synonym: "VLDL hyperlipoproteinemia" EXACT [DOID:1172] xref: DOID:1172 {source="MONDO:obsoleteEquivalent"} xref: ICD9:272.1 {source="DOID:1172"} xref: MESH:D006953 {source="MONDO:obsoleteEquivalent", source="DOID:1172"} xref: OMIM:144600 {source="MONDO:obsoleteEquivalent", source="DOID:1172"} xref: Orphanet:413 {source="OMIM:144600", source="MONDO:obsoleteEquivalentObsolete"} xref: SCTID:238085009 {source="MONDO:obsoleteEquivalent", source="DOID:1172"} xref: SCTID:34528009 {source="MONDO:relatedTo", source="DOID:1172"} xref: UMLS:CN074246 {source="MONDO:obsoleteEquivalent", source="MONDO:ncbi_mim2gene_medline"} property_value: exactMatch DOID:1172 property_value: exactMatch http://identifiers.org/mesh/D006953 property_value: exactMatch http://identifiers.org/snomedct/238085009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN074246 property_value: exactMatch https://omim.org/entry/144600 property_value: exactMatch Orphanet:413 property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeBiomarker"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6017 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6418/hyperlipoproteinemia-type-4 xsd:anyURI {source="GARD:0006418"} is_obsolete: true [Term] id: MONDO:0007762 name: hyperlipoproteinemia type V def: "A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma chylomicrons and triglycerides contained in very-low-density lipoproteins. Type V hyperlipoproteinemia is often associated with diabetes mellitus and is not caused by reduced lipoprotein lipase activity as in hyperlipoproteinemia type I." [MESH:D006954] subset: gard_rare {source="GARD:0006704"} subset: ordo_disease {source="Orphanet:70470"} subset: ordo_subtype_of_a_disorder {source="Orphanet:530849"} synonym: "familial APOA5 deficiency" EXACT [Orphanet:530849] synonym: "familial apolipoprotein A-V deficiency" EXACT [Orphanet:530849] synonym: "familial apolipoprotein a5 deficiency" EXACT [Orphanet:530849] synonym: "familial hyperlipoproteinemia type V" EXACT [DOID:1171] synonym: "familial type 5 hyperlipoproteinemia" EXACT [DOID:1171] synonym: "Fredrickson type V lipaemia" EXACT [DOID:1171] synonym: "HLP type 5" EXACT [Orphanet:70470] synonym: "hyperchylomicronemia late onset" RELATED [GARD:0006704] synonym: "hyperchylomicronemia with Hyperprebetalipoproteinemia, familial" RELATED [OMIM:144650] synonym: "hyperchylomicronemia, late-onset" RELATED [OMIM:144650] synonym: "hyperlipemia combined fat and carbohydrate-induced" RELATED [GARD:0006704] synonym: "hyperlipemia mixed" RELATED [GARD:0006704] synonym: "hyperlipemia, combined fat and carbohydrate-induced" RELATED [OMIM:144650] synonym: "hyperlipemia, mixed" RELATED [OMIM:144650] synonym: "hyperlipidemia type V" RELATED [GARD:0006704] synonym: "hyperlipidemia, type 5" RELATED [OMIM:144650] synonym: "hyperlipoproteinemia type 5" RELATED [GARD:0006704] synonym: "hyperlipoproteinemia, type 5" RELATED [OMIM:144650] synonym: "hyperlipoproteinemia, type V" RELATED [OMIM:144650] synonym: "major hyperlipidemia" EXACT [Orphanet:70470] synonym: "mixed hyperlipemia" RELATED [GARD:0006704] synonym: "type V hyperlipoproteinemia" RELATED [GARD:0006704] xref: DOID:0111421 {source="MONDO:equivalentTo"} xref: DOID:1171 {source="MONDO:equivalentTo"} xref: MedDRA:10060755 {source="Orphanet:70470", source="Orphanet:70470/e"} xref: MESH:D006954 {source="Orphanet:70470", source="MONDO:equivalentTo", source="Orphanet:70470/e", source="DOID:1171"} xref: OMIM:144650 {source="Orphanet:70470", source="MONDO:equivalentTo", source="Orphanet:70470/e", source="DOID:1171", source="Orphanet:530849"} xref: Orphanet:530849 {source="MONDO:equivalentTo"} xref: Orphanet:70470 {source="MONDO:equivalentObsolete", source="OMIM:144650"} xref: SCTID:34349009 {source="MONDO:equivalentTo", source="DOID:1171"} is_a: MONDO:0001336 {source="DC-OMIM:144650", source="DOID:1171", source="MESH:D006954/inferred"} ! familial hyperlipidemia is_a: MONDO:0015902 {source="Orphanet:70470"} ! major hypertriglyceridemia property_value: closeMatch http://identifiers.org/meddra/10060755 property_value: exactMatch DOID:0111421 property_value: exactMatch DOID:1171 property_value: exactMatch http://identifiers.org/mesh/D006954 property_value: exactMatch http://identifiers.org/snomedct/34349009 property_value: exactMatch https://omim.org/entry/144650 property_value: exactMatch Orphanet:530849 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6704/hyperlipoproteinemia-type-5 xsd:anyURI {source="GARD:0006704"} [Term] id: MONDO:0007763 name: nonpapillary renal cell carcinoma subset: ordo_disease {source="Orphanet:319276"} synonym: "adenocarcinoma of kidney" RELATED [OMIM:144700] synonym: "CCRCC" NARROW ABBREVIATION [Orphanet:319276] synonym: "clear cell renal cell adenocarcinoma" NARROW [Orphanet:319276] synonym: "clear cell renal cell carcinoma" NARROW [Orphanet:319276] synonym: "hypernephroma" RELATED [OMIM:144700] synonym: "nonpapillary renal carcinoma 1 locus" RELATED [OMIM:144700] synonym: "RCC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:144700] synonym: "renal carcinoma, chromophobe, somatic" EXACT [OMIM:144700, OMIM:genemap2] synonym: "renal cell carcinoma" BROAD [OMIM:144700, OMIM:genemap2] synonym: "renal cell carcinoma, clear cell" EXACT [OMIM:144700, OMIM:genemap2] synonym: "renal cell carcinoma, clear cell, somatic" EXACT [OMIM:144700, OMIM:genemap2] synonym: "renal cell carcinoma, nonpapillary" RELATED [MONDO:Lexical, OMIM:144700] synonym: "renal cell carcinoma, somatic" EXACT [OMIM:144700, OMIM:genemap2] xref: DOID:0050387 {source="MONDO:equivalentTo"} xref: OMIM:144700 {source="DOID:0050387", source="MONDO:equivalentTo"} is_a: EFO:0000681 {source="DOID:0050387/inferred", source="Orphanet:319276"} ! renal cell carcinoma property_value: exactMatch DOID:0050387 property_value: exactMatch https://omim.org/entry/144700 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2262 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007764 name: autosomal dominant osteosclerosis, Worth type def: "A sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture." [https://orcid.org/0000-0001-5208-3432, Orphanet:2790] subset: ordo_malformation_syndrome {source="Orphanet:2790"} synonym: "autosomal dominant endosteal hyperostosis" EXACT [DOID:0080037] synonym: "autosomal dominant osteosclerosis" EXACT [DOID:0080037] synonym: "benign form of Worth hyperostosis corticalis generalisata with torus platinus" EXACT [DOID:0080037] synonym: "endosteal hyperostosis, autosomal dominant" RELATED [OMIM:144750] synonym: "endosteal hyperostosis, Worth type" EXACT [Orphanet:2790] synonym: "hyperostosis corticalis generalisata, benign form of Worth with torus palatinus" RELATED [GARD:0000390] synonym: "hyperostosis corticalis generalisata, benign form of Worth, with torus palatinus" RELATED [OMIM:144750] synonym: "hyperostosis, endosteal" EXACT [OMIM:144750, OMIM:genemap2] synonym: "osteosclerosis of the skull and enlarged mandible" RELATED [GARD:0009488] synonym: "osteosclerosis, autosomal dominant" RELATED [OMIM:144750] synonym: "osteosclerosis, autosomal dominant, Worth type" RELATED [GARD:0000390] synonym: "Ostéosclérose autosomique dominante type Worth" EXACT [Orphanet:2790] synonym: "Van Buchem disease type 2" RELATED [GARD:0009488] synonym: "Van Buchem disease, type 2" RELATED [OMIM:607636] synonym: "VBCH2" RELATED ABBREVIATION [OMIM:607636] synonym: "Worth syndrome" EXACT [DOID:0080037, Orphanet:2790] synonym: "Worth's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] xref: DOID:0080037 {source="MONDO:equivalentTo"} xref: OMIM:144750 {source="Orphanet:2790/e", source="MONDO:equivalentTo", source="Orphanet:2790"} xref: OMIM:607636 {source="MONDO:equivalentObsolete", source="DOID:0080037"} xref: Orphanet:2790 {source="MONDO:equivalentTo", source="OMIM:144750"} xref: SCTID:254131007 {source="MONDO:equivalentTo"} is_a: MONDO:0002185 ! hyperostosis is_a: MONDO:0800084 {source="PMID:31633310"} ! primary bone dysplasia with increased bone density property_value: exactMatch DOID:0080037 property_value: exactMatch http://identifiers.org/snomedct/254131007 property_value: exactMatch https://omim.org/entry/144750 property_value: exactMatch Orphanet:2790 property_value: excluded_subClassOf MONDO:0019703 {source="Orphanet:2790"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4533 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0007765 name: hyperostosis cranialis interna subset: ordo_disease {source="Orphanet:443098"} synonym: "HCIN" RELATED ABBREVIATION [OMIM:144755] synonym: "hyperostosis cranalis interna" EXACT [OMIM:144755, OMIM:genemap2] synonym: "hyperostosis cranialis interna" EXACT [MONDO:ambiguous, OMIM:144755] synonym: "hyperostosis cranialis interna (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0005890 {source="MONDO:otherHierarchy"} xref: MESH:C564168 {source="MONDO:equivalentTo"} xref: OMIM:144755 {source="Orphanet:443098/e", source="MONDO:equivalentTo", source="Orphanet:443098"} xref: Orphanet:443098 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIM:144755"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C564168 property_value: exactMatch https://omim.org/entry/144755 property_value: exactMatch Orphanet:443098 property_value: excluded_subClassOf MONDO:0019703 {source="Orphanet:443098"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000589 "hyperostosis cranialis interna (disease)" xsd:string [Term] id: MONDO:0007766 name: Morgagni-Stewart-Morel syndrome def: "Morgagni-Stewart-Morel syndrome is characterized by thickening of the inner table of the frontal bone, sometimes associated with obesity and hypertrichosis. It mainly affects women over 35 years of age. The prevalence and clinical significance of hyperostosis frontalis interna is unknown. Transmission is either X-linked or autosomal dominant." [Orphanet:77296] subset: gard_rare {source="GARD:0008593"} subset: ordo_malformation_syndrome {source="Orphanet:77296"} synonym: "hyperostosis frontalis interna" EXACT [OMIM:144800, Orphanet:77296] synonym: "hyperostosis frontalis interna, obesity, shortness and cognitive impairment" RELATED [GARD:0008593] synonym: "Morgagni-Stewart-Morel syndrome" EXACT [OMIM:144800] synonym: "MSM syndrome" RELATED [GARD:0008593] xref: MESH:D006957 {source="MONDO:equivalentTo"} xref: NCIT:C84772 {source="MONDO:equivalentTo"} xref: OMIM:144800 {source="Orphanet:77296/e", source="MONDO:equivalentTo", source="Orphanet:77296"} xref: Orphanet:77296 {source="MONDO:equivalentTo", source="OMIM:144800"} xref: SCTID:82054006 {source="MONDO:equivalentTo"} is_a: MONDO:0020018 {source="Orphanet:77296"} ! cranial malformation relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/D006957 property_value: exactMatch http://identifiers.org/snomedct/82054006 property_value: exactMatch https://omim.org/entry/144800 property_value: exactMatch NCIT:C84772 property_value: exactMatch Orphanet:77296 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8593/morgagni-stewart-morel-syndrome xsd:anyURI {source="GARD:0008593"} [Term] id: MONDO:0007768 name: hyperparathyroidism 2 with jaw tumors def: "An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts." [NCIT:P378] subset: gard_rare {source="GARD:0010829"} subset: ordo_disease {source="Orphanet:99880"} synonym: "familial primary hyperparathyroidism with multiple ossifying jaw fibromas" RELATED [GARD:0010829] synonym: "hereditary hyperparathyroidism-jaw tumor syndrome" RELATED [GARD:0010829] synonym: "hereditary hyperparathyroidism-jaw tumour syndrome" RELATED OMO:0003005 [] synonym: "HPT-JT" EXACT [NCIT:C48287, Orphanet:99880] synonym: "HRPT2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:145001] synonym: "hyperparathyroidism 2" RELATED [GARD:0010829, MONDO:Lexical, OMIM:145001] synonym: "hyperparathyroidism 2 with jaw tumors" EXACT [OMIM:145001] synonym: "hyperparathyroidism type 2" EXACT [MONDORULE:1, OMIM:145001] synonym: "hyperparathyroidism, familial primary, with multiple ossifying jaw fibromas" RELATED [OMIM:145001] synonym: "hyperparathyroidism-2" EXACT [NCIT:C48287] synonym: "hyperparathyroidism-jaw tumor syndrome" EXACT [NCIT:C48287] synonym: "hyperparathyroidism-jaw tumor syndrome, hereditary" RELATED [OMIM:145001] synonym: "hyperparathyroidism-jaw tumour syndrome" EXACT OMO:0003005 [] synonym: "hyperparathyroidism-jaw tumour syndrome, hereditary" RELATED OMO:0003005 [] synonym: "parathyroid adenoma with cystic changes" EXACT [OMIM:145001, OMIM:genemap2] synonym: "parathyroid adenomatosis, familial cystic" RELATED [OMIM:145001] xref: NCIT:C48287 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: OMIM:145001 {source="Orphanet:99880/e", source="MONDO:equivalentTo", source="Orphanet:99880"} xref: Orphanet:99880 {source="MONDO:equivalentTo", source="OMIM:145001"} xref: SCTID:702378002 {source="MONDO:equivalentTo"} xref: UMLS:C1704981 {source="NCIT:C48287", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:145001", source="Orphanet:99880"} is_a: EFO:0003820 ! bone neoplasm is_a: EFO:0003865 ! kidney neoplasm is_a: MONDO:0016365 {source="Orphanet:99880"} ! familial primary hyperparathyroidism is_a: MONDO:0017891 {source="Orphanet:99880"} ! inherited renal cancer-predisposing syndrome is_a: MONDO:0023603 ! hereditary disorder of connective tissue is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder property_value: exactMatch http://identifiers.org/snomedct/702378002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1704981 property_value: exactMatch https://omim.org/entry/145001 property_value: exactMatch NCIT:C48287 property_value: exactMatch Orphanet:99880 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10829/hyperparathyroidism-jaw-tumor-syndrome xsd:anyURI {source="GARD:0010829"} [Term] id: MONDO:0007771 name: hyperpigmentation with or without hypopigmentation, familial progressive synonym: "FPHH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:145250] synonym: "hyperpigmentation with or without hypopigmentation" EXACT [OMIM:145250, OMIM:genemap2] synonym: "hyperpigmentation with or without hypopigmentation, familial progressive" EXACT [MONDO:Lexical, OMIM:145250] synonym: "hyperpigmentation, familial progressive, 2" RELATED [OMIM:145250] synonym: "hyperpigmentation, familial progressive, 2, formerly" RELATED [OMIM:145250] synonym: "macules, hereditary congenital hypopigmented and hyperpigmented" EXACT [OMIM:145250] synonym: "melanosis universalis hereditaria" RELATED [OMIM:145250] synonym: "melanosis, universal" EXACT [OMIM:145250] xref: DOID:0111373 {source="MONDO:equivalentTo"} xref: OMIM:145250 {source="MONDO:equivalentTo"} xref: UMLS:C1835039 {source="MONDO:equivalentTo"} is_a: MONDO:0013648 {source="Orphanet:79146/btnt"} ! familial progressive hyperpigmentation property_value: exactMatch DOID:0111373 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835039 property_value: exactMatch https://omim.org/entry/145250 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007772 name: pseudohypoaldosteronism type 2A subset: ordo_etiological_subtype {source="Orphanet:88938"} synonym: "Gordon hyperkalemia-hypertension syndrome" RELATED [OMIM:145260] synonym: "hyperpotassemia and hypertension, familial" RELATED [OMIM:145260] synonym: "hypertensive hyperkalemia, familial" RELATED [OMIM:145260] synonym: "PHA2A" EXACT ABBREVIATION [MONDO:Lexical, OMIM:145260, Orphanet:88938] synonym: "pseudohypoaldosteronism, type IIA" RELATED [MONDO:Lexical, OMIM:145260] xref: OMIM:145260 {source="Orphanet:88938/e", source="MONDO:equivalentTo", source="Orphanet:88938"} xref: Orphanet:88938 {source="OMIM:145260", source="MONDO:equivalentTo"} xref: SCTID:703254001 {source="MONDO:equivalentTo"} xref: UMLS:C1840389 {source="OMIM:145260", source="MONDO:equivalentTo", source="Orphanet:88938"} is_a: MONDO:0019162 {source="OMIM:145260", source="Orphanet:88938"} ! pseudohypoaldosteronism type 2 property_value: exactMatch http://identifiers.org/snomedct/703254001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840389 property_value: exactMatch https://omim.org/entry/145260 property_value: exactMatch Orphanet:88938 [Term] id: MONDO:0007776 name: hypersensitivity pneumonitis, familial def: "An instance of hypersensitivity pneumonitis that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] synonym: "hereditary hypersensitivity pneumonitis" EXACT [MONDO:patterns/hereditary] synonym: "hypersensitivity pneumonitis, familial" EXACT [OMIM:145300] xref: MESH:C536846 {source="MONDO:equivalentTo"} xref: OMIM:145300 {source="MONDO:equivalentTo"} xref: UMLS:C1840386 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:145300"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0017853 {source="MESH:C536846"} ! hypersensitivity pneumonitis intersection_of: MONDO:0017853 ! hypersensitivity pneumonitis intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/mesh/C536846 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840386 property_value: exactMatch https://omim.org/entry/145300 [Term] id: MONDO:0007779 name: obsolete autosomal dominant Opitz G/BBB syndrome def: "OBSOLETE. Autosomal dominant form of Opitz G/BBB syndrome." [MONDO:patterns/autosomal_dominant] subset: ordo_etiological_subtype {source="Orphanet:306588"} synonym: "ADOS" EXACT ABBREVIATION [Orphanet:306588] synonym: "autosomal dominant Opitz BBB/G syndrome" EXACT [Orphanet:306588] synonym: "autosomal dominant Opitz syndrome" EXACT [Orphanet:306588] synonym: "BBB syndrome" RELATED [OMIM:145410] synonym: "chromosome 22Q11.2 deletion syndrome, Opitz phenotype" RELATED [OMIM:145410] synonym: "G syndrome" RELATED [OMIM:145410] synonym: "GBBB syndrome" RELATED [OMIM:145410] synonym: "GBBB2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:145410] synonym: "hypertelorism with esophageal Abnormality and hypospadias" RELATED [OMIM:145410] synonym: "hypertelorism-hypospadias syndrome" RELATED [OMIM:145410] synonym: "hypospadias-dysphagia syndrome" RELATED [OMIM:145410] synonym: "Opitz Bbbg syndrome" RELATED [OMIM:145410] synonym: "Opitz G/BBB syndrome, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] synonym: "Opitz GBBB syndrome, autosomal dominant" RELATED [OMIM:145410] synonym: "Opitz GBBB syndrome, type 2" RELATED [OMIM:145410] synonym: "Opitz GBBB syndrome, type II" RELATED [MONDO:Lexical, OMIM:145410] synonym: "Opitz oculogenitolaryngeal syndrome, type 2" RELATED [OMIM:145410] synonym: "Opitz-Frias syndrome" RELATED [OMIM:145410] synonym: "Opitz-G syndrome, type 2" RELATED [OMIM:145410] synonym: "telecanthus with associated abnormalities" RELATED [OMIM:145410] synonym: "telecanthus-hypospadias syndrome" RELATED [OMIM:145410] xref: OMIM:145410 {source="Orphanet:306588/e", source="MONDO:obsoleteEquivalentObsolete", source="Orphanet:306588"} xref: Orphanet:306588 {source="OMIM:145410", source="MONDO:obsoleteEquivalentObsolete"} property_value: exactMatch https://omim.org/entry/145410 property_value: exactMatch Orphanet:306588 property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6312 xsd:anyURI is_obsolete: true consider: MONDO:0800025 [Term] id: MONDO:0007780 name: obsolete hypertelorism, Teebi type property_value: IAO:0000231 IAO:0000229 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4500 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI is_obsolete: true replaced_by: MONDO:0800025 [Term] id: MONDO:0007781 name: essential hypertension, genetic def: "An instance of essential hypertension that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] synonym: "blood pressure regulation QTL" EXACT [OMIM:145500, OMIM:genemap2] synonym: "EHT" RELATED ABBREVIATION [OMIM:145500] synonym: "genetic essential hypertension" EXACT [MONDO:patterns/genetic] synonym: "hypertension, essential" RELATED [OMIM:145500] synonym: "hypertension, essential, salt-sensitive" EXACT [OMIM:145500, OMIM:genemap2] synonym: "hypertension, essential, susceptibility to" RELATED [OMIM:145500, OMIM:genemap2] synonym: "hypertension, essential, susceptibility to, 1" RELATED [OMIM:145500, OMIM:genemap2] synonym: "hypertension, essential, susceptibility to, 2" NARROW [OMIM:145500, OMIM:genemap2] synonym: "hypertension, essential, susceptibility to, 3" NARROW [OMIM:145500, OMIM:genemap2] synonym: "hypertension, essential, susceptibility to, 4" NARROW [OMIM:145500, OMIM:genemap2] synonym: "hypertension, essential, susceptibility to, 5" NARROW [OMIM:145500, OMIM:genemap2] synonym: "hypertension, essential, susceptibility to, 6" NARROW [OMIM:145500, OMIM:genemap2] synonym: "hypertension, salt-sensitive essential, susceptibility to" RELATED [OMIM:145500, OMIM:genemap2] synonym: "hypertension, susceptibility to" NARROW [OMIM:145500, OMIM:genemap2] xref: OMIM:145500 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0001134 ! essential hypertension is_a: MONDO:0020573 ! inherited disease susceptibility intersection_of: MONDO:0001134 ! essential hypertension intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch https://omim.org/entry/145500 property_value: excluded_subClassOf MONDO:0001134 {source="DC-OMIM:145500"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4882 xsd:anyURI [Term] id: MONDO:0007784 name: selective pituitary resistance to thyroid hormone def: "Pituitary resistance to thyroid hormone is a rare, genetic thyroid disease, due to reduced pituitary gland responsiveness to thyroid hormone, characterized by mild to moderate hyperthyroidism in association with elevated circulating thyroid hormone levels, normal or elevated thyroid stimulating hormone, and no abnormalities of the pituitary gland on MRI. Patients present with diffuse large goiter, tachycardia, atrial fibrillation, weight loss and/or heat intolerance/perspiration, but no exophthalmos or anterior tibial mixedema." [Orphanet:165994] subset: ordo_disease {source="Orphanet:165994"} synonym: "hyperthyroidism, familial, due to inappropriate thyrotropin secretion" RELATED [OMIM:145650] synonym: "pituitary resistance to thyroid hormone" RELATED [Orphanet:165994] synonym: "PRTH" EXACT ABBREVIATION [MONDO:Lexical, OMIM:145650, PMID:8475937] synonym: "thyroid hormone resistance, selective pituitary" RELATED [MONDO:Lexical, OMIM:145650] xref: DOID:0111374 {source="MONDO:equivalentTo"} xref: MESH:C564154 {source="MONDO:equivalentTo"} xref: OMIM:145650 {source="MONDO:equivalentTo", source="Orphanet:165994", source="Orphanet:165994/e"} xref: Orphanet:165994 {source="MONDO:equivalentObsolete", source="OMIM:145650"} xref: UMLS:C1840364 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:145650", source="Orphanet:165994"} is_a: EFO:0009189 {source="Orphanet:165994"} ! hyperthyroidism is_a: MONDO:0034217 ! resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta relationship: has_characteristic MONDO:0021136 {source="MONDO:0015894"} ! rare property_value: exactMatch DOID:0111374 property_value: exactMatch http://identifiers.org/mesh/C564154 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840364 property_value: exactMatch https://omim.org/entry/145650 [Term] id: MONDO:0007787 name: Ambras type hypertrichosis universalis congenita def: "Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." [Orphanet:1023] subset: ordo_clinical_subtype {source="Orphanet:1023"} synonym: "Ambras syndrome" EXACT [DOID:0111060, OMIM:145701, Orphanet:1023] synonym: "congenital generalised hypertrichosis, Ambras type" RELATED OMO:0003005 [] synonym: "congenital generalized hypertrichosis, Ambras type" RELATED [Orphanet:1023] synonym: "HTC 1" RELATED [GARD:0008206] synonym: "HTC1" EXACT ABBREVIATION [DOID:0111060, MONDO:Lexical, OMIM:145701] synonym: "hypertrichosis universalis congenita Ambras type" RELATED [GARD:0008206] synonym: "hypertrichosis universalis congenita, Ambras type" RELATED [MONDO:Lexical, OMIM:145701] synonym: "hypertrichosis, congenital generalised" RELATED OMO:0003005 [] synonym: "hypertrichosis, congenital generalized" RELATED [OMIM:145701] xref: DOID:0111060 {source="MONDO:equivalentTo"} xref: OMIM:145701 {source="Orphanet:1023", source="DOID:0111060", source="MONDO:equivalentTo", source="Orphanet:1023/e"} xref: Orphanet:1023 {source="DOID:0111060", source="MONDO:equivalentTo", source="OMIM:145701"} xref: UMLS:C1840362 {source="Orphanet:1023", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:145701"} is_a: MONDO:0016381 {source="Orphanet:1023"} ! hypertrichosis lanuginosa congenita property_value: exactMatch DOID:0111060 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840362 property_value: exactMatch https://omim.org/entry/145701 property_value: exactMatch Orphanet:1023 [Term] id: MONDO:0007790 name: Charcot-Marie-Tooth disease type 3 comment: Editor note: merged Dejerine-Sottas Neuropathy on basis of Ordo and ncit subset: ordo_disease {source="Orphanet:64748"} synonym: "Charcot-Marie-Tooth disease type 3" EXACT [Orphanet:64748] synonym: "Charcot-Marie-Tooth disease, type 3" EXACT [NCIT:C133087] synonym: "CMT3" EXACT ABBREVIATION [NCIT:C133087] synonym: "dejerine-sottas disease" EXACT [OMIM:145900, OMIM:genemap2] synonym: "Dejerine-Sottas neuropathy" EXACT [DOID:0050540, NCIT:C133087] synonym: "Dejerine-Sottas syndrome" EXACT [DOID:0050540] synonym: "DSN" RELATED ABBREVIATION [GARD:0009204] synonym: "hereditary motor and sensory neuropathy 3" RELATED [GARD:0009204] synonym: "hereditary motor and sensory neuropathy type 3" EXACT [OMIM:145900, Orphanet:64748] synonym: "hereditary motor and sensory neuropathy type III" EXACT [NCIT:C133087, Orphanet:64748] synonym: "HMSN 3" EXACT [Orphanet:64748] synonym: "HMSN III" EXACT [Orphanet:64748] synonym: "HMSN3" EXACT ABBREVIATION [NCIT:C133087] synonym: "hypertrophic neuropathy of Dejerine-Sottas" EXACT [NCIT:C133087, OMIM:145900] synonym: "hypertrophic neuropathy of infancy" RELATED [GARD:0009204] xref: DOID:0050540 {source="MONDO:equivalentTo"} xref: NCIT:C133087 {source="MONDO:equivalentTo"} xref: OMIM:145900 {source="DOID:0050540", source="MONDO:equivalentTo", source="Orphanet:64748", source="Orphanet:64748/e"} xref: Orphanet:64748 {source="MONDO:equivalentTo", source="OMIM:145900"} xref: SCTID:111499002 {source="MONDO:equivalentTo"} xref: UMLS:C0011195 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C133087", source="Orphanet:64748", source="Orphanet:64748/e", source="OMIM:145900"} is_a: MONDO:0015626 {source="DOID:0050540", source="MONDO:Redundant", source="NCIT:C133087", source="OMIM:145900", source="Orphanet:64748/inferred"} ! Charcot-Marie-Tooth disease property_value: exactMatch DOID:0050540 property_value: exactMatch http://identifiers.org/snomedct/111499002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011195 property_value: exactMatch https://omim.org/entry/145900 property_value: exactMatch NCIT:C133087 property_value: exactMatch Orphanet:64748 property_value: excluded_subClassOf MONDO:0015359 {source="Orphanet:64748"} property_value: excluded_subClassOf MONDO:0015361 {source="Orphanet:64748"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007791 name: familial hypocalciuric hypercalcemia 1 def: "Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the CASR gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_etiological_subtype {source="Orphanet:93372"} synonym: "CASR familial hypocalciuric hypercalcemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial benign hypercalcemia 1" EXACT [DOID:0060700, OMIM:145980] synonym: "familial benign hypercalcemia type 1" RELATED [GARD:0002796] synonym: "familial hypocalciuric hypercalcemia caused by mutation in CASR" EXACT [MONDO:design_pattern] synonym: "familial hypocalciuric hypercalcemia type 1" EXACT [DOID:0060700, MONDORULE:1] synonym: "familial hypocalciuric hypercalcemia type I" EXACT [DOID:0060700] synonym: "FBH1" RELATED ABBREVIATION [GARD:0002796] synonym: "FHH type 1" EXACT [DOID:0060700, Orphanet:93372] synonym: "Fhh1" RELATED [OMIM:145980] synonym: "HHC1" EXACT ABBREVIATION [DOID:0060700, MONDO:Lexical, OMIM:145980] synonym: "hpocalciuric hypercalcemia, type I" EXACT [OMIM:145980, OMIM:genemap2] synonym: "hypercalcemia, familial benign" RELATED [OMIM:145980] synonym: "hypercalcemia, familial benign type 1" RELATED [GARD:0002796] synonym: "hypocalciuric hypercalcemia type I" EXACT [DOID:0060700] synonym: "hypocalciuric hypercalcemia, acquired" RELATED [OMIM:145980] synonym: "hypocalciuric hypercalcemia, familial, type 1" RELATED [GARD:0002796, OMIM:145980] synonym: "hypocalciuric hypercalcemia, familial, type I" RELATED [MONDO:Lexical, OMIM:145980] xref: DOID:0060700 {source="MONDO:equivalentTo"} xref: MedDRA:10068704 {source="Orphanet:93372", source="Orphanet:93372/e"} xref: MESH:C537145 {source="Orphanet:93372", source="MONDO:equivalentTo", source="Orphanet:93372/e"} xref: OMIM:145980 {source="Orphanet:93372", source="MONDO:equivalentTo", source="Orphanet:93372/e", source="DOID:0060700"} xref: Orphanet:93372 {source="MONDO:equivalentTo", source="OMIM:145980", source="DOID:0060700"} xref: SCTID:704166007 {source="MONDO:equivalentTo"} is_a: MONDO:0018458 {source="DC-OMIM:145980", source="DOID:0060700", source="MONDO:Redundant", source="OMIM:145980", source="Orphanet:93372"} ! familial hypocalciuric hypercalcemia is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder property_value: closeMatch http://identifiers.org/meddra/10068704 property_value: exactMatch DOID:0060700 property_value: exactMatch http://identifiers.org/mesh/C537145 property_value: exactMatch http://identifiers.org/snomedct/704166007 property_value: exactMatch https://omim.org/entry/145980 property_value: exactMatch Orphanet:93372 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0007792 name: familial hypocalciuric hypercalcemia 2 def: "A familial hypocalciuric hypercalcemia that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13." [DOID:0060701, PMID:23802516] subset: ordo_etiological_subtype {source="Orphanet:101049"} synonym: "familial benign hypercalcemia, type 2" RELATED [OMIM:145981] synonym: "familial hypocalciuric hypercalcemia type 2" EXACT [DOID:0060701, MONDORULE:1] synonym: "FBH2" RELATED ABBREVIATION [GARD:0009758] synonym: "FHH type 2" EXACT [DOID:0060701, Orphanet:101049] synonym: "HHC2" EXACT ABBREVIATION [DOID:0060701, MONDO:Lexical, OMIM:145981] synonym: "hpocalciuric hypercalcemia, type II" EXACT [OMIM:145981, OMIM:genemap2] synonym: "hypercalcemia, familial benign type 2" RELATED [GARD:0009758] synonym: "hypercalcemia, familial benign, type 2" RELATED [OMIM:145981] synonym: "hypocalciuric hypercalcemia type II" EXACT [DOID:0060701] synonym: "hypocalciuric hypercalcemia, familial, type 2" RELATED [GARD:0009758, OMIM:145981] synonym: "hypocalciuric hypercalcemia, familial, type II" RELATED [MONDO:Lexical, OMIM:145981] xref: DOID:0060701 {source="MONDO:equivalentTo"} xref: MESH:C537146 {source="Orphanet:101049", source="MONDO:equivalentTo", source="Orphanet:101049/e"} xref: OMIM:145981 {source="Orphanet:101049", source="MONDO:equivalentTo", source="DOID:0060701", source="Orphanet:101049/e"} xref: Orphanet:101049 {source="MONDO:equivalentTo", source="OMIM:145981", source="DOID:0060701"} xref: UMLS:C1840347 {source="Orphanet:101049", source="MONDO:equivalentTo", source="OMIM:145981", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018458 {source="DC-OMIM:145981", source="DOID:0060701", source="OMIM:145981", source="Orphanet:101049"} ! familial hypocalciuric hypercalcemia property_value: exactMatch DOID:0060701 property_value: exactMatch http://identifiers.org/mesh/C537146 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840347 property_value: exactMatch https://omim.org/entry/145981 property_value: exactMatch Orphanet:101049 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007793 name: hypochondroplasia def: "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." [Orphanet:429] subset: gard_rare {source="GARD:0006724"} subset: ordo_disease {source="Orphanet:429"} synonym: "HCH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:146000] synonym: "hypochondroplasia" EXACT [MONDO:Lexical, OMIM:146000] xref: DOID:0080041 {source="MONDO:equivalentTo"} xref: ICD10CM:Q77.4 {source="Orphanet:429/inclusion", source="Orphanet:429", source="MONDO:directSiblingOf", source="Orphanet:429/ntbt"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10020967 {source="Orphanet:429", source="Orphanet:429/e"} xref: MESH:C562937 {source="MONDO:equivalentTo"} xref: NCIT:C118697 {source="MONDO:equivalentTo"} xref: OMIM:146000 {source="MONDO:equivalentTo", source="Orphanet:429", source="Orphanet:429/e"} xref: Orphanet:429 {source="OMIM:146000", source="MONDO:equivalentTo"} xref: SCTID:205468002 {source="MONDO:equivalentTo"} xref: UMLS:C0410529 {source="NCIT:C118697", source="OMIM:146000", source="MONDO:equivalentTo", source="Orphanet:429", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:429/e"} is_a: EFO:0005571 {source="DOID:0080041", source="NCIT:C118697"} ! osteochondrodysplasia is_a: MONDO:0019685 {source="Orphanet:429", source="PMID:31633310"} ! FGFR3-related chondrodysplasia property_value: closeMatch http://identifiers.org/meddra/10020967 property_value: exactMatch DOID:0080041 property_value: exactMatch http://identifiers.org/mesh/C562937 property_value: exactMatch http://identifiers.org/snomedct/205468002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0410529 property_value: exactMatch https://omim.org/entry/146000 property_value: exactMatch NCIT:C118697 property_value: exactMatch Orphanet:429 property_value: excluded_subClassOf MONDO:0018232 {source="Orphanet:429"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6724/hypochondroplasia xsd:anyURI {source="GARD:0006724"} [Term] id: MONDO:0007795 name: mullerian duct anomalies-limb anomalies syndrome def: "Mullerian duct anomalies-limb anomalies syndrome is characterized by the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant." [Orphanet:2491] subset: ordo_malformation_syndrome {source="Orphanet:2491"} synonym: "hypomelia mullerian duct anomalies" RELATED [GARD:0002908] synonym: "hypomelia with mullerian duct anomalies" RELATED [OMIM:146160] synonym: "limb uterus syndrome" RELATED [GARD:0002908] synonym: "limb-uterus syndrome" RELATED [OMIM:146160] synonym: "Müllerian duct anomalies-limb anomalies syndrome" RELATED [Orphanet:2491] synonym: "severe upper limb hypoplasia and Mullerian duct anomalies" RELATED [GARD:0002908] xref: MESH:C537155 {source="MONDO:equivalentTo"} xref: OMIM:146160 {source="Orphanet:2491/e", source="MONDO:equivalentTo", source="Orphanet:2491"} xref: Orphanet:2491 {source="MONDO:equivalentTo", source="OMIM:146160"} xref: UMLS:C1840335 {source="Orphanet:2491/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2491", source="OMIM:146160"} is_a: MONDO:0015161 {source="Orphanet:2491"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015620 {source="Orphanet:2491"} ! syndromic urogenital tract malformation is_a: MONDO:0015846 {source="Orphanet:2491"} ! syndromic uterovaginal malformation property_value: exactMatch http://identifiers.org/mesh/C537155 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840335 property_value: exactMatch https://omim.org/entry/146160 property_value: exactMatch Orphanet:2491 [Term] id: MONDO:0007796 name: hypoparathyroidism, familial isolated 1 subset: gard_rare synonym: "FIH" BROAD ABBREVIATION [OMIM:146200] synonym: "FIH1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:146200] synonym: "hypoparathyroidism familial isolated" RELATED [GARD:0002910] synonym: "hypoparathyroidism, autosomal dominant" RELATED [OMIM:146200] synonym: "hypoparathyroidism, autosomal recessive" RELATED [OMIM:146200] synonym: "hypoparathyroidism, familial isolated" BROAD [MONDO:Lexical, OMIM:146200] synonym: "hypoparathyroidism, familial isolated 1" EXACT [OMIM:146200] xref: OMIM:146200 {source="GARD:0002910", source="MONDO:equivalentTo"} xref: SCTID:237657009 {source="MONDO:equivalentTo"} is_a: MONDO:0016390 {source="Orphanet:2238/btnt", source="https://github.com/monarch-initiative/mondo/issues/1305"} ! familial hypoparathyroidism property_value: exactMatch http://identifiers.org/snomedct/237657009 property_value: exactMatch https://omim.org/entry/146200 [Term] id: MONDO:0007797 name: hypoparathyroidism-deafness-renal disease syndrome def: "The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease." [Orphanet:2237] subset: ordo_malformation_syndrome {source="Orphanet:2237"} synonym: "Barakat syndrome" EXACT [DOID:0060878, OMIM:146255, Orphanet:2237] synonym: "HDR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:146255] synonym: "HDR syndrome" EXACT [DOID:0060878, Orphanet:2237] synonym: "hypoparathyroidism, deafness, and renal anomalies syndrome" EXACT [NCIT:C130983] synonym: "hypoparathyroidism, sensorineural deafness, and renal disease" EXACT [DOID:0060878, MONDO:Lexical, OMIM:146255] synonym: "hypoparathyroidism, sensorineural deafness, and renal dysplasia" RELATED [GARD:0002911] synonym: "hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome" RELATED [OMIM:146255] synonym: "hypoparathyroidism-deafness-renal disease syndrome" EXACT [] synonym: "nephrosis, nerve deafness, and hypoparathyroidism" RELATED [OMIM:146255] xref: DOID:0060878 {source="MONDO:equivalentTo"} xref: MESH:C537907 {source="MONDO:equivalentTo"} xref: NCIT:C130983 {source="MONDO:equivalentTo"} xref: OMIM:146255 {source="MONDO:equivalentTo", source="Orphanet:2237", source="DOID:0060878", source="Orphanet:2237/e"} xref: Orphanet:2237 {source="MONDO:equivalentTo", source="OMIM:146255", source="DOID:0060878"} xref: SCTID:724282009 {source="MONDO:equivalentTo"} xref: UMLS:C1840333 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:146255", source="Orphanet:2237", source="DOID:0060878", source="Orphanet:2237/e", source="NCIT:C130983"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C130983"} ! syndromic disease is_a: MONDO:0016892 {source="Orphanet:2237"} ! partial deletion of the short arm of chromosome 10 property_value: exactMatch DOID:0060878 property_value: exactMatch http://identifiers.org/mesh/C537907 property_value: exactMatch http://identifiers.org/snomedct/724282009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840333 property_value: exactMatch https://omim.org/entry/146255 property_value: exactMatch NCIT:C130983 property_value: exactMatch Orphanet:2237 [Term] id: MONDO:0007798 name: obsolete adult hypophosphatasia def: "OBSOLETE. Adult hypophosphatasia (A-HPP) is a mildform of hypophosphatasia characterized by osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures duringmiddle age, and dental anomalies." [Orphanet:247676] subset: ordo_clinical_subtype {source="Orphanet:247676"} synonym: "adult phosphoethanolaminuria" EXACT [Orphanet:247676] synonym: "adult Rathburn disease" EXACT [Orphanet:247676] synonym: "hypophosphatasia of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] synonym: "hypophosphatasia, ADULT" RELATED [OMIM:146300] synonym: "hypophosphatasia, mild" RELATED [OMIM:146300] synonym: "mild hypophosphatasia" RELATED [DOID:0110913] synonym: "obsolete adult hypophosphatasia" EXACT [] synonym: "odontohypophosphatasia" RELATED [OMIM:146300] xref: DOID:0110913 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E83.3 {source="Orphanet:247676/attributed", source="Orphanet:247676/ntbt", source="MONDO:relatedTo", source="Orphanet:247676"} xref: OMIM:146300 {source="Orphanet:247676", source="MONDO:obsoleteEquivalent", source="DOID:0110913", source="Orphanet:247676/e"} xref: Orphanet:247676 {source="MONDO:obsoleteEquivalent", source="OMIM:146300", source="DOID:0110913"} xref: SCTID:20756002 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0268413 {source="Orphanet:247676", source="MONDO:obsoleteEquivalent", source="OMIM:146300", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:247676/e"} property_value: exactMatch DOID:0110913 property_value: exactMatch http://identifiers.org/snomedct/20756002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268413 property_value: exactMatch https://omim.org/entry/146300 property_value: exactMatch Orphanet:247676 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2906 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI is_obsolete: true consider: MONDO:0600009 consider: MONDO:0600010 consider: MONDO:0600011 [Term] id: MONDO:0007800 name: chromosome 18p deletion syndrome def: "Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18." [Orphanet:1598] subset: disease_grouping subset: ordo_disease {source="Orphanet:1598"} synonym: "18p syndrome" EXACT [DOID:0060406, NCIT:C84521, OMIM:146390, Orphanet:1598] synonym: "18p-" EXACT [GARD:0008631] synonym: "chromosome 18p deletion" EXACT [GARD:0008631] synonym: "chromosome 18p deletion syndrome" EXACT [OMIM:146390] synonym: "De Grouchy syndrome" EXACT [DOID:0060406, Orphanet:1598] synonym: "deletion 18p syndrome" EXACT [NCIT:C84521] synonym: "monosomy 18p" EXACT [DOID:0060406] synonym: "monosomy type 18p" EXACT [MONDORULE:4, Orphanet:1598] synonym: "partial deletion of chromosome 18p" EXACT [Orphanet:261974] synonym: "partial deletion of the short arm of chromosome 18" EXACT [MONDO:0016896] synonym: "partial deletion of the short arm of chromosome type 18" EXACT [MONDORULE:2, Orphanet:261974] synonym: "partial monosomy of chromosome 18p" EXACT [Orphanet:261974] synonym: "partial monosomy of the short arm of chromosome 18" EXACT [Orphanet:261974] xref: DOID:0060406 {source="MONDO:equivalentTo"} xref: ICD9:758.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538309 {source="MONDO:equivalentTo", source="DOID:0060406"} xref: NCIT:C84521 {source="MONDO:equivalentTo", source="DOID:0060406"} xref: OMIM:146390 {source="Orphanet:1598", source="MONDO:equivalentTo", source="DOID:0060406", source="Orphanet:1598/e"} xref: Orphanet:1598 {source="MONDO:equivalentTo", source="DOID:0060406", source="OMIM:146390"} xref: Orphanet:261974 {source="MONDO:equivalentTo"} xref: SCTID:270890001 {source="MONDO:equivalentTo", source="DOID:0060406"} xref: UMLS:C0432442 {source="Orphanet:1598", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:0060406", source="Orphanet:1598/e", source="NCIT:C84521", source="OMIM:146390"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84521"} ! syndromic disease is_a: MONDO:0016880 {source="Orphanet:261974"} ! partial deletion of chromosome 18 property_value: exactMatch DOID:0060406 property_value: exactMatch http://identifiers.org/mesh/C538309 property_value: exactMatch http://identifiers.org/snomedct/270890001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432442 property_value: exactMatch https://omim.org/entry/146390 property_value: exactMatch NCIT:C84521 property_value: exactMatch Orphanet:1598 property_value: exactMatch Orphanet:261974 property_value: excluded_subClassOf MONDO:0020226 {source="Orphanet:1598"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0007804 name: Pallister-Hall syndrome def: "Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." [Orphanet:672] subset: gard_rare {source="GARD:0007305"} subset: ordo_malformation_syndrome {source="Orphanet:672"} synonym: "ano-cerebro-digital syndrome" EXACT [NCIT:C84987] synonym: "hypothalamic hamartoblastoma syndrome" EXACT [Orphanet:672] synonym: "hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly" EXACT [OMIM:146510] synonym: "Pallister Hall syndrome" EXACT [GARD:0007305] synonym: "Pallister-Hall syndrome" EXACT [MONDO:Lexical, OMIM:146510] synonym: "PHS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:146510] xref: DOID:9248 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D054975 {source="DOID:9248", source="Orphanet:672/e", source="MONDO:equivalentTo", source="Orphanet:672"} xref: NCIT:C84987 {source="DOID:9248", source="MONDO:equivalentTo"} xref: OMIM:146510 {source="DOID:9248", source="Orphanet:672/e", source="MONDO:equivalentTo", source="Orphanet:672"} xref: Orphanet:672 {source="MONDO:equivalentTo", source="OMIM:146510"} xref: SCTID:56677004 {source="DOID:9248", source="MONDO:equivalentTo"} xref: UMLS:C0265220 {source="DOID:9248", source="Orphanet:672/e", source="NCIT:C84987", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:146510", source="Orphanet:672"} is_a: MONDO:0015160 {source="Orphanet:672"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0015246 {source="Orphanet:672"} ! syndromic anorectal malformation is_a: MONDO:0018762 ! non-acquired combined pituitary hormone deficiency is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism property_value: exactMatch DOID:9248 property_value: exactMatch http://identifiers.org/mesh/D054975 property_value: exactMatch http://identifiers.org/snomedct/56677004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265220 property_value: exactMatch https://omim.org/entry/146510 property_value: exactMatch NCIT:C84987 property_value: exactMatch Orphanet:672 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7305/pallister-hall-syndrome xsd:anyURI {source="GARD:0007305"} [Term] id: MONDO:0007806 name: obsolete hypotrichosis 4 property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5166 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6357 xsd:anyURI is_obsolete: true replaced_by: MONDO:0100522 [Term] id: MONDO:0007808 name: ichthyosis hystrix of Curth-Macklin def: "Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK)." [Orphanet:79503] subset: ordo_disease {source="Orphanet:79503"} synonym: "Curth-Macklin type ichthyosis hystrix" RELATED [GARD:0002954] synonym: "ichthyosis histrix, curth-macklin type" EXACT [OMIM:146590, OMIM:genemap2] synonym: "ichthyosis hystrix, Curth Macklin type" RELATED [GARD:0002954] synonym: "ichthyosis HYSTRIX, Curth-Macklin type" RELATED [MONDO:Lexical, OMIM:146590] synonym: "ichthyosis hystrix, Curth-Macklin type" EXACT [OMIM:146590, Orphanet:79503] synonym: "IHCM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:146590] xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536088 {source="Orphanet:79503", source="MONDO:equivalentTo", source="Orphanet:79503/e"} xref: OMIM:146590 {source="Orphanet:79503", source="MONDO:equivalentTo", source="Orphanet:79503/e"} xref: Orphanet:79503 {source="OMIM:146590", source="MONDO:equivalentTo"} xref: SCTID:254170001 {source="MONDO:equivalentTo"} xref: UMLS:C1840296 {source="OMIM:146590", source="Orphanet:79503", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:79503/e"} is_a: MONDO:0859383 {source="OMIM:146590"} ! ichthyosis hystrix property_value: exactMatch http://identifiers.org/mesh/C536088 property_value: exactMatch http://identifiers.org/snomedct/254170001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840296 property_value: exactMatch https://omim.org/entry/146590 property_value: exactMatch Orphanet:79503 property_value: excluded_subClassOf MONDO:0017266 {source="Orphanet:79503"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007809 name: ichthyosis histrix, Lambert type subset: gard_rare {source="GARD:0009497"} subset: ordo_disease {source="Orphanet:79504"} synonym: "ichthyosis hystrix gravior" EXACT [OMIM:146600] synonym: "ichthyosis, Lambert type" EXACT [OMIM:146600, Orphanet:79504] synonym: "Lambert type ichthyosis" RELATED [GARD:0009497] synonym: "porcupine Man" RELATED [OMIM:146600] xref: ICD10CM:Q80.0 {source="Orphanet:79504", source="MONDO:relatedTo", source="Orphanet:79504/attributed", source="Orphanet:79504/ntbt"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536087 {source="Orphanet:79504", source="MONDO:equivalentTo", source="Orphanet:79504/e"} xref: OMIM:146600 {source="Orphanet:79504", source="MONDO:equivalentTo", source="Orphanet:79504/e"} xref: Orphanet:79504 {source="MONDO:equivalentObsolete", source="OMIM:146600"} xref: SCTID:254174005 {source="MONDO:equivalentTo"} is_a: MONDO:0859383 {source="OMIM:146600"} ! ichthyosis hystrix property_value: exactMatch http://identifiers.org/mesh/C536087 property_value: exactMatch http://identifiers.org/snomedct/254174005 property_value: exactMatch https://omim.org/entry/146600 property_value: excluded_subClassOf MONDO:0017266 {source="Orphanet:79504"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9497/ichthyosis-hystrix-gravior xsd:anyURI {source="GARD:0009497"} [Term] id: MONDO:0007811 name: ichthyosis-cheek-eyebrow syndrome def: "Ichthyosis-cheek-eyebrow syndrome is characterized by ichthyosis, prominent full cheeks and sparse lateral eyebrows. It has been described in several individuals from four generations of one family. Transmission is autosomal dominant." [Orphanet:2267] subset: ordo_disease {source="Orphanet:2267"} synonym: "Ice syndrome" RELATED [OMIM:146720] synonym: "ichthyosis cheek eyebrow syndrome" RELATED [GARD:0002947] synonym: "ichthyosis--cheek--eyebrow syndrome" RELATED [OMIM:146720] synonym: "Sidransky Feinstein Goodman syndrome" RELATED [GARD:0002947] synonym: "Sidransky-Feinstein-Goodman syndrome" EXACT [Orphanet:2267] xref: MESH:C536084 {source="Orphanet:2267", source="MONDO:equivalentTo", source="Orphanet:2267/e"} xref: OMIM:146720 {source="Orphanet:2267", source="MONDO:equivalentTo", source="Orphanet:2267/e"} xref: Orphanet:2267 {source="MONDO:equivalentObsolete", source="OMIM:146720"} xref: SCTID:716097001 {source="MONDO:equivalentTo"} is_a: MONDO:0017270 ! autosomal ichthyosis syndrome property_value: exactMatch http://identifiers.org/mesh/C536084 property_value: exactMatch http://identifiers.org/snomedct/716097001 property_value: exactMatch https://omim.org/entry/146720 [Term] id: MONDO:0007812 name: ichthyosis, lamellar, autosomal dominant subset: gard_rare {source="GARD:0009735"} synonym: "ichthyosis lamellar, autosomal dominant" RELATED [GARD:0009735] synonym: "ichthyosis, lamellar, autosomal dominant" EXACT [OMIM:146750] synonym: "lamellar ichthyosis, autosomal dominant" RELATED [OMIM:146750] xref: MESH:C537263 {source="MONDO:equivalentTo"} xref: OMIM:146750 {source="MONDO:equivalentTo"} xref: SCTID:254164007 {source="MONDO:equivalentTo"} is_a: MONDO:0017778 {source="MESH:C537263"} ! lamellar ichthyosis property_value: exactMatch http://identifiers.org/mesh/C537263 property_value: exactMatch http://identifiers.org/snomedct/254164007 property_value: exactMatch https://omim.org/entry/146750 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9735/ichthyosis-lamellar-autosomal-dominant xsd:anyURI {source="GARD:0009735"} [Term] id: MONDO:0007813 name: superficial epidermolytic ichthyosis def: "Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth." [Orphanet:455] subset: gard_rare {source="GARD:0002966"} subset: ordo_disease {source="Orphanet:455"} synonym: "bullous type ichthyosis" EXACT [DOID:0060877] synonym: "bullous type of ichthyosis" RELATED [GARD:0002966] synonym: "IBS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:146800] synonym: "ichthyosis bullosa of Siemens" EXACT [MONDO:Lexical, OMIM:146800, Orphanet:455] synonym: "ichthyosis exfoliativa" RELATED [OMIM:146800] synonym: "ichthyosis, bullous type" RELATED [OMIM:146800] synonym: "SEI" EXACT ABBREVIATION [Orphanet:455, PMID:20643494] synonym: "superficial epidermolytic ichthyosis" EXACT [DOID:0060877, PMID:20643494] xref: DOID:0060877 {source="MONDO:equivalentTo"} xref: MESH:D053560 {source="Orphanet:455", source="MONDO:equivalentTo", source="Orphanet:455/e", source="DOID:0060877"} xref: NCIT:C84777 {source="MONDO:equivalentTo"} xref: OMIM:146800 {source="Orphanet:455", source="MONDO:equivalentTo", source="Orphanet:455/e", source="DOID:0060877"} xref: Orphanet:455 {source="MONDO:equivalentTo", source="DOID:0060877", source="OMIM:146800"} xref: SCTID:254169002 {source="MONDO:equivalentTo"} xref: UMLS:C0432306 {source="NCIT:C84777", source="Orphanet:455", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:455/e", source="DOID:0060877", source="OMIM:146800"} is_a: MONDO:0017266 {source="Orphanet:455"} ! keratinopathic ichthyosis is_a: MONDO:0017339 ! exfoliative ichthyosis property_value: exactMatch DOID:0060877 property_value: exactMatch http://identifiers.org/mesh/D053560 property_value: exactMatch http://identifiers.org/snomedct/254169002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432306 property_value: exactMatch https://omim.org/entry/146800 property_value: exactMatch NCIT:C84777 property_value: exactMatch Orphanet:455 property_value: excluded_subClassOf MONDO:0019269 {source="DOID:0060877", source="MESH:D053560", source="NCIT:C84777", source="Orphanet:455/inferred"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2966/ichthyosis-bullosa-of-siemens xsd:anyURI {source="GARD:0002966"} [Term] id: MONDO:0007817 name: IgE responsiveness, atopic def: "Immediate hypersensitivity reaction - type I reaction, involves immunoglobulin E (IgE)-mediated release of chemical mediators from mast cells and basophils. Th2 cells produce IL-4 and IL-13, which then act on B cells to promote the production of antigen-specific IgE. Reexposure to the antigen can then result in the antigen binding to and cross-linking the bound IgE antibodies on the mast cells and basophils. This causes the release of preformed mediators (histamine, tryptase, tryptase, chemotactic factors), newly synthesized mediators (leukotrienes, prostaglandin, thromboxane, platelet-activating factor, adenosine, bradykinin), and cytokines from these cells that results in structural and functional changes to the affected tissue." [NCIT:C3116] synonym: "Atopic hypersensitivity" RELATED [OMIM:147050] synonym: "atopy, susceptibility to" RELATED [OMIM:147050] synonym: "IgE response underlying allergic asthma and rhinitis" RELATED [OMIM:147050] synonym: "IgE responsiveness, ATOPIC" RELATED [OMIM:147050] synonym: "IgE responsiveness, atopic" EXACT [MONDO:Lexical, OMIM:147050] synonym: "IgE, elevated level of" EXACT [OMIM:147050, OMIM:genemap2] synonym: "IgE, level of" RELATED [OMIM:147050] synonym: "IGER" RELATED ABBREVIATION [MONDO:Lexical, OMIM:147050] synonym: "immediate hypersensitivity" EXACT [NCIT:C3116] synonym: "Immunoglobulin E, basic level of, in serum" RELATED [OMIM:147050] synonym: "type 1 hypersensitivity" EXACT [NCIT:C3116] synonym: "type 1 hypersensitivity reaction" EXACT [NCIT:C3116] synonym: "type I hypersensitivity" EXACT [NCIT:C3116] synonym: "type I hypersensitivity reaction" EXACT [NCIT:C3116] synonym: "type I immediate hypersensitivity reaction" EXACT [NCIT:C3116] xref: MESH:C564133 {source="MONDO:equivalentTo"} xref: NCIT:C3116 {source="MONDO:equivalentTo"} xref: OMIM:147050 {source="MONDO:equivalentTo"} xref: UMLS:C1840253 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:147050"} is_a: EFO:0000274 ! atopic eczema property_value: exactMatch http://identifiers.org/mesh/C564133 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840253 property_value: exactMatch https://omim.org/entry/147050 property_value: exactMatch NCIT:C3116 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007818 name: hyper-IgE recurrent infection syndrome 1, autosomal dominant def: "A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome." [NCIT:C126342] subset: gard_rare subset: ordo_disease {source="Orphanet:2314"} synonym: "AD hyperimmunoglobulin E syndrome" EXACT [GARD:0006800] synonym: "AD-HIES" EXACT [GARD:0006800, Orphanet:2314] synonym: "autosomal dominant HIES" EXACT [Orphanet:2314] synonym: "autosomal dominant hyper IgE syndrome" EXACT [GARD:0006800] synonym: "autosomal dominant hyper-IgE syndrome" EXACT [NCIT:C126342] synonym: "autosomal dominant hyperimmunoglobulin E syndrome" EXACT [Orphanet:2314] synonym: "Buckley syndrome" EXACT [Orphanet:2314] synonym: "HIES autosomal dominant" EXACT [GARD:0006800] synonym: "HIES, autosomal dominant" EXACT [OMIM:147060] synonym: "hyper Ig E syndrome, autosomal dominant" EXACT [GARD:0006800] synonym: "hyper-IgE recurrent infection syndrome" BROAD [NCIT:C126342] synonym: "hyper-IgE recurrent infection syndrome, autosomal dominant" EXACT [OMIM:147060] synonym: "hyper-IgE syndrome, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] synonym: "hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant" EXACT [GARD:0006800] synonym: "hyperimmunoglobulin E syndrome type 1" EXACT [Orphanet:2314] synonym: "hyperimmunoglobulin E-recurrent infection syndrome" BROAD [Orphanet:2314] synonym: "immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist" EXACT [OMIM:146840] synonym: "JOB syndrome" EXACT [DOID:3261, OMIM:147060, Orphanet:2314] synonym: "Job syndrome autosomal dominant" EXACT [GARD:0006800] synonym: "Job's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] synonym: "STAT3 deficiency" EXACT [Orphanet:2314] xref: DOID:3261 {source="EFO:0003775", source="MONDO:equivalentTo"} xref: EFO:0003775 {source="MONDO:equivalentTo"} xref: MESH:C564135 {source="MONDO:equivalentTo"} xref: MESH:C567925 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: NCIT:C126342 {source="MONDO:equivalentTo"} xref: OMIM:146840 {source="MONDO:equivalentObsolete"} xref: OMIM:147060 {source="GARD:0006800", source="EFO:0003775", source="MONDO:equivalentTo", source="Orphanet:2314", source="DOID:3261", source="Orphanet:2314/e"} xref: Orphanet:2314 {source="GARD:0006800", source="MONDO:equivalentTo", source="OMIM:147060"} xref: SCTID:50926003 {source="EFO:0003775", source="MONDO:equivalentTo"} xref: UMLS:C1840265 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:146840"} xref: UMLS:C1968689 {source="MONDO:relatedTo", source="DOID:3261"} is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0018037 {source="MONDO:Redundant", source="Orphanet:2314"} ! hyper-IgE syndrome property_value: exactMatch DOID:3261 property_value: exactMatch http://identifiers.org/mesh/C564135 property_value: exactMatch http://identifiers.org/mesh/C567925 property_value: exactMatch http://identifiers.org/snomedct/50926003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840265 property_value: exactMatch https://omim.org/entry/147060 property_value: exactMatch NCIT:C126342 property_value: exactMatch Orphanet:2314 property_value: excluded_subClassOf MONDO:0019305 {source="Orphanet:2314"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3804 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6800/autosomal-dominant-hyper-ige-syndrome xsd:anyURI {source="GARD:0006800"} [Term] id: MONDO:0007819 name: solitary median maxillary central incisor syndrome def: "A hereditary autosomal dominant condition characterized primarily by single (unpaired) deciduous and permanent maxillary central incisors and short stature. Growth hormone deficiencies may also be present. Mutations in the SHH gene have been identified." [OMIM:147250] subset: ordo_clinical_subtype {source="Orphanet:2286"} synonym: "Fused incisors" RELATED [OMIM:147250] synonym: "incisors fused" RELATED [GARD:0004877] synonym: "incisors, Fused" RELATED [OMIM:147250] synonym: "single central maxillary incisor" RELATED [OMIM:147250] synonym: "single median maxillary central incisor" EXACT [OMIM:147250, OMIM:genemap2] synonym: "single upper central incisor" EXACT [OMIM:147250, Orphanet:2286] synonym: "SMMCI" EXACT ABBREVIATION [MONDO:Lexical, OMIM:147250, Orphanet:2286] synonym: "SMMCI syndrome" RELATED [OMIM:147250] synonym: "solitary MEDIAN maxillary central incisor" RELATED [MONDO:Lexical, OMIM:147250] synonym: "solitary median maxillary central incisor syndrome" EXACT [OMIM:147250] xref: MESH:C537342 {source="Orphanet:2286", source="MONDO:equivalentTo", source="Orphanet:2286/e"} xref: OMIM:147250 {source="Orphanet:2286", source="MONDO:equivalentTo", source="Orphanet:2286/e"} xref: Orphanet:2286 {source="OMIM:147250", source="MONDO:equivalentObsolete"} xref: SCTID:707609006 {source="MONDO:equivalentTo"} is_a: MONDO:0007733 ! holoprosencephaly 3 is_a: MONDO:0017219 {source="Orphanet:2286"} ! microform holoprosencephaly property_value: exactMatch http://identifiers.org/mesh/C537342 property_value: exactMatch http://identifiers.org/snomedct/707609006 property_value: exactMatch https://omim.org/entry/147250 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007820 name: fused mandibular incisors def: "Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia and an increased risk of pulp exposure." [Orphanet:2287] subset: gard_rare {source="GARD:0002419"} subset: ordo_morphological_anomaly {source="Orphanet:2287"} synonym: "'Double Tooth'" RELATED [OMIM:147251] synonym: "Double tooth" RELATED [GARD:0002419] synonym: "incisors, FUSED mandibular" RELATED [OMIM:147251] xref: OMIM:147251 {source="Orphanet:2287", source="MONDO:equivalentTo", source="Orphanet:2287/e"} xref: Orphanet:2287 {source="OMIM:147251", source="MONDO:equivalentTo"} xref: SCTID:707796002 {source="MONDO:equivalentTo"} xref: UMLS:CN201433 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="Orphanet:2287/inferred"} ! genetic disorder property_value: exactMatch http://identifiers.org/snomedct/707796002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201433 property_value: exactMatch https://omim.org/entry/147251 property_value: exactMatch Orphanet:2287 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2419/fused-mandibular-incisors xsd:anyURI {source="GARD:0002419"} [Term] id: MONDO:0007834 name: islet cell adenomatosis def: "A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia." [NCIT:C4375] synonym: "INSDM" RELATED ABBREVIATION [OMIM:147630] synonym: "INSULINOMATOSIS and diabetes mellitus" RELATED [OMIM:147630] synonym: "Insulinomatosis and diabetes mellitus" RELATED [OMIM:147630] synonym: "islet cell adenomatosis" EXACT [OMIM:147630] synonym: "nesidioblastosis" RELATED [NCIT:C4375] xref: MESH:C563258 {source="MONDO:equivalentTo"} xref: NCIT:C4375 {source="MONDO:equivalentTo"} xref: OMIM:147630 {source="MONDO:equivalentTo"} xref: SCTID:274944000 {source="MONDO:equivalentTo"} xref: UMLS:C1578917 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:147630"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: MONDO:0001933 {source="NCIT:C4375"} ! endocrine pancreas disorder property_value: exactMatch http://identifiers.org/mesh/C563258 property_value: exactMatch http://identifiers.org/snomedct/274944000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1578917 property_value: exactMatch https://omim.org/entry/147630 property_value: exactMatch NCIT:C4375 [Term] id: MONDO:0007836 name: IVIC syndrome def: "IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss." [Orphanet:2307] subset: gard_rare {source="GARD:0000269"} subset: ordo_malformation_syndrome {source="Orphanet:2307"} synonym: "Instituto venezolano de Investigaciones Cientificas syndrome" RELATED [GARD:0000269] synonym: "IVIC syndrome" EXACT [OMIM:147750] synonym: "oculo-oto-radial syndrome" EXACT [Orphanet:2307] synonym: "oculootoradial syndrome" RELATED [OMIM:147750] synonym: "OORS" RELATED ABBREVIATION [GARD:0000269] synonym: "radial Ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia" RELATED [OMIM:147750] synonym: "radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia" EXACT [Orphanet:2307] xref: DOID:0111381 {source="MONDO:equivalentTo"} xref: MESH:C535544 {source="MONDO:equivalentTo"} xref: OMIM:147750 {source="Orphanet:2307/e", source="MONDO:equivalentTo", source="Orphanet:2307"} xref: Orphanet:2307 {source="OMIM:147750", source="MONDO:equivalentTo"} xref: SCTID:722019000 {source="MONDO:equivalentTo"} xref: UMLS:C1327918 {source="Orphanet:2307/e", source="OMIM:147750", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2307"} is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation property_value: exactMatch DOID:0111381 property_value: exactMatch http://identifiers.org/mesh/C535544 property_value: exactMatch http://identifiers.org/snomedct/722019000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1327918 property_value: exactMatch https://omim.org/entry/147750 property_value: exactMatch Orphanet:2307 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/269/ivic-syndrome xsd:anyURI {source="GARD:0000269"} [Term] id: MONDO:0007837 name: Johnson neuroectodermal syndrome def: "Johnson neuroectodermal syndrome is characterized by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism." [Orphanet:2316] subset: gard_rare {source="GARD:0000378"} subset: ordo_malformation_syndrome {source="Orphanet:2316"} synonym: "Aadh syndrome" RELATED [OMIM:147770] synonym: "alopecia anosmia deafness hypogonadism syndrome" RELATED [GARD:0000378] synonym: "alopecia-anosmia-conductive hearing loss-hypogonadism syndrome" EXACT [Orphanet:2316] synonym: "alopecia-anosmia-deafness-hypogonadism syndrome" EXACT [OMIM:147770, Orphanet:2316] synonym: "Johnson neuroectodermal syndrome" EXACT [OMIM:147770] synonym: "Johnson-McMillin syndrome" EXACT [OMIM:147770, Orphanet:2316] xref: MESH:C535882 {source="MONDO:equivalentTo", source="Orphanet:2316", source="Orphanet:2316/e"} xref: OMIM:147770 {source="MONDO:equivalentTo", source="Orphanet:2316", source="Orphanet:2316/e"} xref: Orphanet:2316 {source="OMIM:147770", source="MONDO:equivalentTo"} xref: SCTID:721584005 {source="MONDO:equivalentTo"} xref: UMLS:C0796002 {source="OMIM:147770", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2316", source="Orphanet:2316/e"} is_a: MONDO:0015159 {source="Orphanet:2316"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0019287 {source="MESH:C535882/inferred", source="Orphanet:2316"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C535882 property_value: exactMatch http://identifiers.org/snomedct/721584005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796002 property_value: exactMatch https://omim.org/entry/147770 property_value: exactMatch Orphanet:2316 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2316"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/378/johnson-neuroectodermal-syndrome xsd:anyURI {source="GARD:0000378"} [Term] id: MONDO:0007838 name: Jacobsen syndrome def: "A multiple congenital anomaly/intellectual disability contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11." [https://orcid.org/0000-0001-5208-3432, Orphanet:2308] subset: ordo_malformation_syndrome {source="Orphanet:2308"} synonym: "11q terminal deletion disorder" EXACT [NCIT:C75457] synonym: "chromosome 11q deletion syndrome" RELATED [OMIM:147791] synonym: "Del(11)(q23.3)" EXACT [Orphanet:2308] synonym: "Del(11)(qter)" EXACT [Orphanet:2308] synonym: "distal deletion 11q" EXACT [Orphanet:2308] synonym: "distal monosomy 11q" EXACT [Orphanet:2308] synonym: "Jacobsen syndrome" EXACT [MONDO:Lexical, OMIM:147791] synonym: "Jacobsen syndrome, Isolated cases" EXACT [OMIM:147791, OMIM:genemap2] synonym: "JBS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:147791] synonym: "monosomy 11qter" EXACT [Orphanet:2308] synonym: "partial 11q monosomy syndrome" RELATED [OMIM:147791] synonym: "telomeric deletion 11q" EXACT [Orphanet:2308] xref: DOID:0111723 {source="MONDO:equivalentTo"} xref: NCIT:C75457 {source="MONDO:equivalentTo"} xref: OMIM:147791 {source="Orphanet:2308/e", source="MONDO:equivalentTo", source="Orphanet:2308"} xref: Orphanet:2308 {source="OMIM:147791", source="MONDO:equivalentTo"} xref: SCTID:715438008 {source="MONDO:equivalentTo"} xref: UMLS:C0795841 {source="Orphanet:2308/e", source="OMIM:147791", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2308", source="NCIT:C75457"} is_a: MONDO:0002254 {source="NCIT:C75457"} ! syndromic disease is_a: MONDO:0016910 {source="Orphanet:2308"} ! partial deletion of the long arm of chromosome 11 is_a: MONDO:0018795 {source="Orphanet:2308"} ! syndromic constitutional thrombocytopenia is_a: MONDO:0020158 {source="MONDO:0020169-obsoleted"} ! eyelids malposition disorder property_value: exactMatch DOID:0111723 property_value: exactMatch http://identifiers.org/snomedct/715438008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795841 property_value: exactMatch https://omim.org/entry/147791 property_value: exactMatch NCIT:C75457 property_value: exactMatch Orphanet:2308 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007839 name: Aase-Smith syndrome def: "Aase-Smith syndrome type I is a very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures." [Orphanet:916] subset: ordo_malformation_syndrome {source="Orphanet:916"} synonym: "Aase-Smith I syndrome" EXACT [Orphanet:916] synonym: "Aase-Smith syndrome" EXACT [OMIM:147800] synonym: "Aase-Smith syndrome 1" RELATED [OMIM:147800] synonym: "Aase-Smith syndrome I" RELATED [OMIM:147800] synonym: "Aase-Smith syndrome type 1" EXACT [MONDORULE:1, OMIM:147800] synonym: "hydrocephalus-cleft palate-joint contractures syndrome" EXACT [Orphanet:916] synonym: "Joint contractures with Other abnormalities" RELATED [OMIM:147800] xref: MedDRA:10063429 {source="Orphanet:916/e", source="Orphanet:916"} xref: MESH:C535332 {source="Orphanet:916/e", source="MONDO:equivalentTo", source="Orphanet:916"} xref: OMIM:147800 {source="Orphanet:916/e", source="MONDO:equivalentTo", source="Orphanet:916"} xref: Orphanet:916 {source="MONDO:equivalentTo", source="OMIM:147800"} xref: SCTID:718576001 {source="MONDO:equivalentTo"} xref: UMLS:C0220686 {source="Orphanet:916/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:147800", source="Orphanet:916"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015161 {source="Orphanet:916"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0020022 ! central nervous system malformation relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation property_value: closeMatch http://identifiers.org/meddra/10063429 property_value: exactMatch http://identifiers.org/mesh/C535332 property_value: exactMatch http://identifiers.org/snomedct/718576001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220686 property_value: exactMatch https://omim.org/entry/147800 property_value: exactMatch Orphanet:916 [Term] id: MONDO:0007841 name: coxopodopatellar syndrome def: "Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis." [Orphanet:1509] subset: ordo_disease {source="Orphanet:1509"} synonym: "congenital coxa vara, patella aplasia and tarsal synostosis" RELATED [GARD:0003030] synonym: "Coxo-podo-patellar syndrome" RELATED [GARD:0003030] synonym: "coxopodopatellar syndrome" EXACT [OMIM:147891] synonym: "ICPPS" RELATED ABBREVIATION [OMIM:147891] synonym: "ischiocoxopodopatellar syndrome" RELATED [OMIM:147891] synonym: "ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension" EXACT [OMIM:147891, OMIM:genemap2] synonym: "ischiopatellar dysplasia" EXACT [Orphanet:1509] synonym: "patella aplasia, coxa vara, tarsal synostosis" RELATED [GARD:0003030] synonym: "Scott-Taor syndrome" EXACT [OMIM:147891, Orphanet:1509] synonym: "small patella syndrome" EXACT [MONDO:Lexical, OMIM:147891, Orphanet:1509] synonym: "SPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:147891, Orphanet:1509] xref: DOID:0111382 {source="MONDO:equivalentTo"} xref: MESH:C535540 {source="MONDO:equivalentTo"} xref: OMIM:147891 {source="Orphanet:1509/e", source="MONDO:equivalentTo", source="Orphanet:1509"} xref: Orphanet:1509 {source="OMIM:147891", source="MONDO:equivalentTo"} xref: SCTID:720752007 {source="MONDO:equivalentTo"} xref: UMLS:C1840061 {source="OMIM:147891", source="Orphanet:1509/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1509"} is_a: MONDO:0019712 {source="Orphanet:1509", source="PMID:31633310"} ! patellar dysostosis property_value: exactMatch DOID:0111382 property_value: exactMatch http://identifiers.org/mesh/C535540 property_value: exactMatch http://identifiers.org/snomedct/720752007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840061 property_value: exactMatch https://omim.org/entry/147891 property_value: exactMatch Orphanet:1509 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0007842 name: joint laxity, familial def: "A type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility often complicated by dislocation of major joints, particularly the shoulder but in some cases the kneecap. Congenital hip dislocation has also been frequently reported. The syndrome has been described in several families. It is transmitted as an autosomal dominant trait, with high penetrance." [https://orcid.org/0000-0001-5208-3432, Orphanet:2295] subset: ordo_disease {source="Orphanet:2295"} synonym: "articular hypermobility syndrome" RELATED [OMIM:147900] synonym: "EDS 11 (formerly)" RELATED [GARD:0003054] synonym: "EDS XI" EXACT [Orphanet:2295] synonym: "EDS Xi" RELATED [OMIM:147900] synonym: "EDS Xi, formerly" RELATED [OMIM:147900] synonym: "EDS11" RELATED ABBREVIATION [OMIM:147900] synonym: "EDS11, formerly" RELATED [OMIM:147900] synonym: "Ehlers-Danlos syndrome type 11, formerly" EXACT [OMIM:147900] synonym: "Ehlers-Danlos syndrome, type 11 (formerly)" RELATED [GARD:0003054] synonym: "Ehlers-Danlos syndrome, type Xi" RELATED [OMIM:147900] synonym: "Ehlers-Danlos syndrome, type Xi, formerly" RELATED [OMIM:147900] synonym: "familial joint instability syndrome" EXACT [OMIM:147900, Orphanet:2295] synonym: "familial joint laxity" EXACT [Orphanet:2295] synonym: "Joint instability syndrome" EXACT [Orphanet:2295] synonym: "joint laxity, familial" EXACT [OMIM:147900] xref: MESH:C535884 {source="MONDO:equivalentTo"} xref: OMIM:147900 {source="Orphanet:2295/e", source="MONDO:equivalentTo", source="Orphanet:2295"} xref: Orphanet:2295 {source="MONDO:equivalentTo", source="OMIM:147900"} xref: SCTID:71322004 {source="MONDO:equivalentTo"} xref: UMLS:C0268349 {source="Orphanet:2295/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:147900", source="Orphanet:2295"} is_a: MONDO:0020066 {source="Orphanet:2295"} ! Ehlers-Danlos syndrome property_value: exactMatch http://identifiers.org/mesh/C535884 property_value: exactMatch http://identifiers.org/snomedct/71322004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268349 property_value: exactMatch https://omim.org/entry/147900 property_value: exactMatch Orphanet:2295 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5634 xsd:anyURI [Term] id: MONDO:0007844 name: hypogonadotropic hypogonadism 2 with or without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "FGFR1 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "HH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:147950] synonym: "hypogonadotropic hypogonadism 2 with or without anosmia" EXACT [MONDO:Lexical, OMIM:147950] synonym: "hypogonadotropic hypogonadism caused by mutation in FGFR1" EXACT [MONDO:design_pattern] synonym: "KAL2" RELATED ABBREVIATION [GARD:0003070] synonym: "Kallmann syndrome 2" RELATED [OMIM:147950] xref: DOID:0090083 {source="MONDO:equivalentTo"} xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="DOID:0090083"} xref: OMIM:147950 {source="MONDO:equivalentTo", source="DOID:0090083"} xref: UMLS:C1563720 {source="MONDO:equivalentTo", source="OMIM:147950", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018800 ! Kallmann syndrome property_value: exactMatch DOID:0090083 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1563720 property_value: exactMatch https://omim.org/entry/147950 [Term] id: MONDO:0007845 name: Kaposi sarcoma, susceptibility to subset: predisposition synonym: "Kaposi sarcoma, susceptibility to" EXACT [OMIM:148000] synonym: "multicentric Castleman disease, susceptibility to" RELATED [OMIM:148000] synonym: "multiple idiopathic pigmented hemangiosarcoma, susceptibility to" RELATED [OMIM:148000] synonym: "susceptibility to Kaposi sarcoma" RELATED [OMIM:148000] xref: OMIM:148000 {source="MONDO:equivalentTo"} xref: Orphanet:160 {source="MONDO:relatedTo", source="OMIM:148000"} is_a: MONDO:0015979 ! hereditary predisposition to infections intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: predisposes_towards EFO:0000558 ! Kaposi's sarcoma relationship: predisposes_towards EFO:0000558 ! Kaposi's sarcoma property_value: exactMatch https://omim.org/entry/148000 [Term] id: MONDO:0007846 name: KBG syndrome def: "KBG syndrome is a rare condition characterized by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay." [Orphanet:2332] subset: gard_rare {source="GARD:0000082"} subset: ordo_malformation_syndrome {source="Orphanet:2332"} synonym: "KBG syndrome" EXACT [MONDO:Lexical, OMIM:148050] synonym: "KBGS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:148050] synonym: "macrodontia, intellectual disability, characteristic facies, short stature, and skeletal anomalies" RELATED [OMIM:148050] synonym: "macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies" RELATED DEPRECATED [OMIM:148050] synonym: "short stature, characteristic facies, macrodontia, intellectual disability, and skeletal anomalies" RELATED [GARD:0000082] synonym: "short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies" RELATED DEPRECATED [GARD:0000082] synonym: "short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome" EXACT [Orphanet:2332] xref: DOID:14780 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537015 {source="Orphanet:2332", source="DOID:14780", source="MONDO:equivalentTo", source="Orphanet:2332/e"} xref: OMIM:148050 {source="Orphanet:2332", source="DOID:14780", source="MONDO:equivalentTo", source="Orphanet:2332/e"} xref: Orphanet:2332 {source="DOID:14780", source="MONDO:equivalentTo", source="OMIM:148050"} xref: SCTID:711156009 {source="DOID:14780", source="MONDO:equivalentTo"} xref: UMLS:C0220687 {source="Orphanet:2332", source="DOID:14780", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2332/e", source="OMIM:148050"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2332", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:2332"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch DOID:14780 property_value: exactMatch http://identifiers.org/mesh/C537015 property_value: exactMatch http://identifiers.org/snomedct/711156009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220687 property_value: exactMatch https://omim.org/entry/148050 property_value: exactMatch Orphanet:2332 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/82/kbg-syndrome xsd:anyURI {source="GARD:0000082"} [Term] id: MONDO:0007848 name: autosomal dominant keratitis def: "Hereditary keratitis is characterized by opacification and vascularisation of the cornea, often associated with macula hypoplasia." [Orphanet:2334] subset: ordo_disease {source="Orphanet:2334"} synonym: "dominantly inherited keratitis" RELATED [GARD:0003089] synonym: "hereditary keratitis" EXACT [Orphanet:2334] synonym: "keratitis, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] synonym: "keratitis, hereditary" RELATED [OMIM:148190] xref: DOID:0111383 {source="MONDO:equivalentTo"} xref: MESH:C537022 {source="Orphanet:2334", source="MONDO:equivalentTo", source="Orphanet:2334/e"} xref: OMIM:148190 {source="Orphanet:2334", source="MONDO:equivalentTo", source="Orphanet:2334/e"} xref: Orphanet:2334 {source="MONDO:equivalentTo", source="OMIM:148190"} xref: SCTID:715339004 {source="MONDO:equivalentTo"} xref: UMLS:C1835698 {source="Orphanet:2334", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:148190", source="Orphanet:2334/e"} xref: UMLS:C4017065 {source="MONDO:equivalentTo"} xref: UMLS:CN068649 {source="MONDO:equivalentTo"} is_a: EFO:0009449 {source="MESH:C537022", source="MONDO:Redundant"} ! keratitis is_a: MONDO:0000426 {source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0018102 {source="Orphanet:2334"} ! corneal dystrophy property_value: exactMatch DOID:0111383 property_value: exactMatch http://identifiers.org/mesh/C537022 property_value: exactMatch http://identifiers.org/snomedct/715339004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835698 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4017065 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN068649 property_value: exactMatch https://omim.org/entry/148190 property_value: exactMatch Orphanet:2334 [Term] id: MONDO:0007849 name: keratitis fugax hereditaria synonym: "KEFH" RELATED ABBREVIATION [OMIM:148200] synonym: "keratitis fugax hereditaria" EXACT [OMIM:148200] synonym: "KERATOENDOTHELIITIS fugax hereditaria" RELATED [OMIM:148200] synonym: "Keratoendotheliitis fugax hereditaria" RELATED [OMIM:148200] synonym: "keratoendotheliitis fugax hereditaria" EXACT [Orphanet:647815] synonym: "keratoendothelitis fugax hereditaria" EXACT [OMIM:148200, OMIM:genemap2] xref: MESH:C563650 {source="MONDO:equivalentTo"} xref: OMIM:148200 {source="MONDO:equivalentTo"} xref: UMLS:C1835697 {source="OMIM:148200", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C563650 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835697 property_value: exactMatch https://omim.org/entry/148200 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007852 name: palmoplantar keratoderma-deafness syndrome def: "Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance." [Orphanet:2202] subset: ordo_disease {source="Orphanet:2202"} synonym: "diffuse palmoplantar keratoderma with deafness (subtype)" RELATED [GARD:0003094] synonym: "focal palmoplantar keratoderma with sensorineural deafness (subtype)" RELATED [GARD:0003094] synonym: "hereditary palmoplantar keratoderma with deafness (subtype)" RELATED [GARD:0003094] synonym: "keratoderma palmoplantar deafness" RELATED [GARD:0003094] synonym: "keratoderma palmoplantar, with deafness" RELATED [GARD:0003094] synonym: "keratoderma, palmoplantar, with deafness" RELATED [OMIM:148350] synonym: "palmoplantar hyperkeratosis-deafness syndrome" EXACT [Orphanet:2202] synonym: "palmoplantar hyperkeratosis-hearing loss syndrome" EXACT [Orphanet:2202] synonym: "palmoplantar keratoderma and sensorineural deafness" RELATED [GARD:0003094] synonym: "palmoplantar keratoderma-hearing loss syndrome" EXACT [Orphanet:2202] synonym: "PPK-deafness syndrome" EXACT [Orphanet:2202] xref: DOID:0111505 {source="MONDO:equivalentTo"} xref: MESH:C536152 {source="Orphanet:2202", source="MONDO:equivalentTo", source="Orphanet:2202/e"} xref: OMIM:148350 {source="Orphanet:2202", source="MONDO:equivalentTo", source="Orphanet:2202/e"} xref: Orphanet:2202 {source="OMIM:148350", source="MONDO:equivalentTo"} xref: UMLS:C1835672 {source="OMIM:148350", source="Orphanet:2202", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2202/e"} is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma property_value: exactMatch DOID:0111505 property_value: exactMatch http://identifiers.org/mesh/C536152 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835672 property_value: exactMatch https://omim.org/entry/148350 property_value: exactMatch Orphanet:2202 [Term] id: MONDO:0007853 name: palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome subset: ordo_disease synonym: "axonal neuropathy with palmoplantar keratoderma" RELATED [OMIM:148360] synonym: "Charcot-Marie-Tooth disease with palmoplantar keratoderma and nail dystrophy" RELATED [OMIM:148360] synonym: "keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy" EXACT [OMIM:148360] xref: MESH:C536153 {source="MONDO:equivalentTo"} xref: OMIM:148360 {source="MONDO:equivalentTo", source="Orphanet:538574"} xref: Orphanet:538574 {source="MONDO:equivalentTo"} is_a: MONDO:0015360 {source="Orphanet:538574"} ! autosomal dominant hereditary axonal motor and sensory neuropathy is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma property_value: exactMatch http://identifiers.org/mesh/C536153 property_value: exactMatch https://omim.org/entry/148360 property_value: exactMatch Orphanet:538574 [Term] id: MONDO:0007854 name: keratolytic winter erythema def: "Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission." [Orphanet:50943] subset: gard_rare {source="GARD:0008275"} subset: ordo_disease {source="Orphanet:50943"} synonym: "Erythrokeratolysis hiemalis" EXACT [Orphanet:50943] synonym: "Erythrokeratolysis hiemalis ichthyosis" RELATED [GARD:0008275] synonym: "keratolytic WINTER erythema" RELATED [OMIM:148370] synonym: "keratolytic winter erythema" EXACT [MONDO:Lexical, OMIM:148370] synonym: "KWE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:148370] synonym: "Oudtshoorn disease" EXACT [Orphanet:50943] synonym: "Oudtshoorn skin" RELATED [GARD:0008275] synonym: "Oudtshoorn skin disease" RELATED [OMIM:148370] xref: ICD9:695.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536155 {source="MONDO:equivalentTo", source="Orphanet:50943", source="Orphanet:50943/e"} xref: OMIM:148370 {source="MONDO:equivalentTo", source="Orphanet:50943", source="Orphanet:50943/e"} xref: Orphanet:50943 {source="MONDO:equivalentTo", source="OMIM:148370"} xref: SCTID:239064000 {source="MONDO:equivalentTo"} xref: UMLS:C0406756 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:50943", source="Orphanet:50943/e", source="OMIM:148370"} is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease property_value: exactMatch http://identifiers.org/mesh/C536155 property_value: exactMatch http://identifiers.org/snomedct/239064000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406756 property_value: exactMatch https://omim.org/entry/148370 property_value: exactMatch Orphanet:50943 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8275/keratolytic-winter-erythema xsd:anyURI {source="GARD:0008275"} [Term] id: MONDO:0007856 name: palmoplantar keratoderma-esophageal carcinoma syndrome def: "An inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern." [GARD:0003102, https://orcid.org/0000-0001-5208-3432] subset: gard_rare subset: ordo_disease {source="Orphanet:2198"} synonym: "Bennion-Patterson syndrome" EXACT [Orphanet:2198] synonym: "howel-Evans syndrome" RELATED [GARD:0003102] synonym: "Howell-Evans syndrome" EXACT [Orphanet:2198] synonym: "keratosis palmaris Et plantaris with esophageal cancer" RELATED [OMIM:148500] synonym: "keratosis palmaris et plantaris with esophageal cancer" RELATED [GARD:0003102] synonym: "keratosis palmoplantaris with esophageal cancer" RELATED [GARD:0003102] synonym: "keratosis palmoplantaris-esophageal carcinoma syndrome" EXACT [Orphanet:2198] synonym: "palmoplantar hyperkeratosis-esophageal carcinoma syndrome" EXACT [GARD:0003102, Orphanet:2198] synonym: "palmoplantar keratoderma with esophageal cancer" RELATED [OMIM:148500] synonym: "palmoplantar keratoderma-esophageal carcinoma syndrome" EXACT [GARD:0003102] synonym: "Toc" RELATED [GARD:0003102, MONDO:Lexical, OMIM:148500] synonym: "tylosis - oesophageal carcinoma" RELATED [GARD:0003102] synonym: "tylosis with esophageal cancer" RELATED [MONDO:Lexical, OMIM:148500] synonym: "tylosis-oesophageal carcinoma syndrome" EXACT [GARD:0003102, Orphanet:2198] xref: DOID:0111506 {source="MONDO:equivalentTo"} xref: MESH:C536164 {source="MONDO:equivalentTo"} xref: OMIM:148500 {source="GARD:0003102", source="Orphanet:2198", source="MONDO:equivalentTo", source="Orphanet:2198/e"} xref: Orphanet:2198 {source="GARD:0003102", source="MONDO:equivalentTo", source="OMIM:148500"} xref: SCTID:111030006 {source="MONDO:equivalentTo"} is_a: MONDO:0015617 {source="Orphanet:2198"} ! hereditary gastro-esophageal disease is_a: MONDO:0017672 {source="MONDO:0020095-obsoleted"} ! focal palmoplantar keratoderma property_value: exactMatch DOID:0111506 property_value: exactMatch http://identifiers.org/mesh/C536164 property_value: exactMatch http://identifiers.org/snomedct/111030006 property_value: exactMatch https://omim.org/entry/148500 property_value: exactMatch Orphanet:2198 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3102/tylosis-with-esophageal-cancer xsd:anyURI {source="GARD:0003102"} [Term] id: MONDO:0007857 name: keratosis palmaris et plantaris-clinodactyly syndrome def: "Keratosis palmaris et plantaris-clinodactyly syndrome is characterized by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant." [Orphanet:86919] subset: ordo_disease {source="Orphanet:86919"} synonym: "keratosis palmaris ET plantaris with clinodactyly" RELATED [OMIM:148520] synonym: "palmoplantar keratoderma-clinodactyly syndrome" EXACT [Orphanet:86919] xref: MESH:C563646 {source="MONDO:equivalentTo"} xref: OMIM:148520 {source="Orphanet:86919/e", source="MONDO:equivalentTo", source="Orphanet:86919"} xref: Orphanet:86919 {source="OMIM:148520", source="MONDO:equivalentTo"} xref: UMLS:C1835663 {source="OMIM:148520", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:86919"} is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma property_value: exactMatch http://identifiers.org/mesh/C563646 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835663 property_value: exactMatch https://omim.org/entry/148520 property_value: exactMatch Orphanet:86919 [Term] id: MONDO:0007859 name: palmoplantar keratoderma i, striate, focal, or diffuse synonym: "keratoderma, palmoplantar striate form 1" RELATED [GARD:0009172] synonym: "keratoderma, palmoplantar, striate form 1" RELATED [OMIM:148700] synonym: "keratosis palmoplantaris striata 1" RELATED [OMIM:148700] synonym: "keratosis palmoplantaris striata i, AD" EXACT [OMIM:148700, OMIM:genemap2] synonym: "palmoplantar keratoderma I, striate, focal, or diffuse" RELATED [OMIM:148700] synonym: "palmoplantar keratoderma i, striate, focal, or diffuse" EXACT [MONDO:Lexical, OMIM:148700] synonym: "PPKS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:148700] synonym: "SPPK1" RELATED ABBREVIATION [GARD:0009172] synonym: "striate palmoplantar keratoderma 1" RELATED [OMIM:148700] xref: DOID:0081108 {source="MONDO:equivalentTo"} xref: MESH:C536162 {source="MONDO:equivalentTo"} xref: OMIM:148700 {source="MONDO:equivalentTo"} xref: Orphanet:369999 {source="MONDO:relatedTo", source="OMIM:148700"} xref: Orphanet:370002 {source="MONDO:relatedTo", source="OMIM:148700"} is_a: MONDO:0019272 {xref="https://orcid.org/0000-0001-5208-3432", xref="https://orcid.org/0000-0001-5493-2602"} ! hereditary palmoplantar keratoderma property_value: exactMatch DOID:0081108 property_value: exactMatch http://identifiers.org/mesh/C536162 property_value: exactMatch https://omim.org/entry/148700 property_value: excluded_subClassOf MONDO:0018865 {source="DC-OMIM:148700"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3108 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007860 name: focal palmoplantar and gingival keratoderma def: "Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement." [Orphanet:2200] subset: gard_rare {source="GARD:0003098"} subset: ordo_disease {source="Orphanet:2200"} synonym: "focal palmoplantar and gingival hyperkeratosis" EXACT [Orphanet:2200] synonym: "focal palmoplantar and gingival hyperkeratosis syndrome" RELATED [OMIM:148730] synonym: "focal palmoplantar and oral mucosa hyperkeratosis" RELATED [GARD:0003098] synonym: "keratosis focal palmoplantar gingival" RELATED [GARD:0003098] synonym: "keratosis, focal palmoplantar and gingival" RELATED [OMIM:148730] xref: MESH:C536157 {source="MONDO:equivalentTo"} xref: OMIM:148730 {source="Orphanet:2200", source="MONDO:equivalentTo", source="Orphanet:2200/e"} xref: Orphanet:2200 {source="MONDO:equivalentTo", source="OMIM:148730"} xref: SCTID:764963007 {source="MONDO:equivalentTo"} xref: UMLS:C1835650 {source="Orphanet:2200", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:148730"} is_a: MONDO:0017672 {source="MONDO:0020095-obsoleted"} ! focal palmoplantar keratoderma property_value: exactMatch http://identifiers.org/mesh/C536157 property_value: exactMatch http://identifiers.org/snomedct/764963007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835650 property_value: exactMatch https://omim.org/entry/148730 property_value: exactMatch Orphanet:2200 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3098/focal-palmoplantar-and-gingival-keratoderma xsd:anyURI {source="GARD:0003098"} [Term] id: MONDO:0007861 name: isolated cloverleaf skull syndrome def: "Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation." [Orphanet:2343] subset: gard_rare subset: ordo_morphological_anomaly {source="Orphanet:2343"} synonym: "cloverleaf skull" RELATED [OMIM:148800] synonym: "cloverleaf skull syndrome" RELATED [GARD:0003115, MESH:C536884] synonym: "isolated cloverleaf skull syndrome" EXACT [GARD:0003115] synonym: "Kleeblattschadel" RELATED [OMIM:148800] synonym: "KLEEBLATTSCHAEDEL" RELATED ABBREVIATION [OMIM:148800] synonym: "Kleeblattschaedel deformity syndrome" RELATED [GARD:0003115] synonym: "Kleeblattschaedel syndrome" RELATED [GARD:0003115] synonym: "Kleeblattschaedel-deformity syndrome" RELATED [MESH:C536884] xref: MESH:C536884 {source="MONDO:equivalentTo"} xref: OMIM:148800 {source="GARD:0003115", source="Orphanet:2343", source="MONDO:equivalentTo", source="Orphanet:2343/e"} xref: Orphanet:2343 {source="MONDO:equivalentObsolete", source="OMIM:148800"} xref: SCTID:254022009 {source="MONDO:equivalentTo"} xref: UMLS:CN201565 {source="MONDO:equivalentTo"} is_a: MONDO:0015337 {source="Orphanet:2343"} ! isolated craniosynostosis property_value: exactMatch http://identifiers.org/mesh/C536884 property_value: exactMatch http://identifiers.org/snomedct/254022009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201565 property_value: exactMatch https://omim.org/entry/148800 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3115/kleeblattschaedel-syndrome xsd:anyURI {source="GARD:0003115"} [Term] id: MONDO:0007862 name: Waardenburg syndrome type 3 def: "Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin." [Orphanet:896] subset: gard_rare {source="GARD:0005523"} subset: ordo_clinical_subtype {source="Orphanet:896"} synonym: "Klein-Waardenburg syndrome" EXACT [DOID:0110949, Orphanet:896] synonym: "Waardenburg syndrome type III" EXACT [DOID:0110949, Orphanet:896] synonym: "Waardenburg syndrome with limb anomalies" EXACT [Orphanet:896] synonym: "Waardenburg syndrome with upper limb anomalies" EXACT [DOID:0110949, OMIM:148820] synonym: "Waardenburg syndrome, type 3" RELATED [MONDO:Lexical, OMIM:148820] synonym: "White forelock (poliosis) syndrome with multiple congenital malformations" RELATED [GARD:0005523] synonym: "WS3" EXACT ABBREVIATION [DOID:0110949, MONDO:Lexical, OMIM:148820, Orphanet:896] xref: DOID:0110949 {source="MONDO:equivalentTo"} xref: ICD10CM:E70.3 {source="Orphanet:896", source="MONDO:relatedTo", source="Orphanet:896/attributed", source="Orphanet:896/ntbt", source="DOID:0110949"} xref: OMIM:148820 {source="Orphanet:896", source="MONDO:equivalentTo", source="Orphanet:896/e", source="DOID:0110949"} xref: Orphanet:896 {source="MONDO:equivalentTo", source="DOID:0110949", source="OMIM:148820"} is_a: MONDO:0018094 {source="DC-OMIM:148820", source="DOID:0110949", source="OMIM:148820", source="Orphanet:896"} ! Waardenburg syndrome property_value: exactMatch DOID:0110949 property_value: exactMatch https://omim.org/entry/148820 property_value: exactMatch Orphanet:896 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5523/waardenburg-syndrome-type-3 xsd:anyURI {source="GARD:0005523"} [Term] id: MONDO:0007864 name: angioosteohypertrophic syndrome def: "A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb." [https://orcid.org/0000-0001-5208-3432, Orphanet:2346] subset: gard_rare {source="GARD:0003122"} subset: ordo_clinical_subtype {source="Orphanet:90308"} subset: ordo_disease {source="Orphanet:2346"} synonym: "angio-osteohypertrophy syndrome" RELATED [GARD:0003122] synonym: "angioosteohypertrophy syndrome" EXACT [DOID:2926, OMIM:149000] synonym: "haemangiectatic hypertrophy" EXACT [DOID:2926] synonym: "Klippel Trenaunay syndrome" EXACT [GARD:0003122] synonym: "Klippel-Trenaunay syndrome" EXACT [MONDO:0019566, OMIM:149000] synonym: "Klippel-Trenaunay-Weber syndrome" EXACT [DOID:2926, OMIM:149000, Orphanet:2346] synonym: "Klippel-Trenaunay-Weber syndrome, Isolated cases" EXACT [OMIM:149000, OMIM:genemap2] synonym: "Klippel-Trénaunay syndrome" EXACT [Orphanet:90308] synonym: "Klippel-Trénaunay-Weber syndrome" EXACT [] synonym: "KTS" RELATED ABBREVIATION [GARD:0003122] synonym: "Ktw syndrome" RELATED [OMIM:149000] synonym: "Weber-Klippel-Trenaunay" EXACT [GARD:0003122] xref: DOID:2926 {source="EFO:0007334", source="MONDO:equivalentTo"} xref: EFO:0007334 {source="MONDO:equivalentTo"} xref: MedDRA:10051452 {source="Orphanet:90308", source="Orphanet:90308/e"} xref: MESH:D007715 {source="EFO:0007334", source="MONDO:equivalentTo", source="DOID:2926"} xref: NCIT:C84801 {source="MONDO:equivalentTo", source="DOID:2926"} xref: OMIM:149000 {source="Orphanet:90308", source="Orphanet:2346", source="Orphanet:90308/ntbt", source="MONDO:equivalentTo", source="Orphanet:2346/e", source="DOID:2926"} xref: Orphanet:2346 {source="OMIM:149000", source="MONDO:equivalentTo"} xref: Orphanet:90308 {source="OMIM:149000", source="MONDO:equivalentTo"} xref: SCTID:721105004 {source="MONDO:equivalentTo"} xref: UMLS:C0022739 {source="OMIM:149000", source="NCIT:C84801", source="Orphanet:2346", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:2926"} xref: UMLS:CN201567 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="DOID:2926", source="NCIT:C84801"} ! syndromic disease is_a: MONDO:0016229 {source="MONDO:Redundant", source="Orphanet:2346", source="Orphanet:2346/inferred"} ! hereditary vascular anomaly is_a: MONDO:0016524 {source="Orphanet:2346"} ! congenital vascular bone syndrome is_a: MONDO:0019716 {source="Orphanet:2346"} ! overgrowth syndrome property_value: closeMatch http://identifiers.org/meddra/10051452 property_value: exactMatch DOID:2926 property_value: exactMatch http://identifiers.org/mesh/D007715 property_value: exactMatch http://identifiers.org/snomedct/721105004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022739 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201567 property_value: exactMatch https://omim.org/entry/149000 property_value: exactMatch NCIT:C84801 property_value: exactMatch Orphanet:2346 property_value: exactMatch Orphanet:90308 property_value: excluded_subClassOf MONDO:0019293 {source="Orphanet:2346"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5682 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3122/klippel-trenaunay-syndrome xsd:anyURI {source="GARD:0003122"} [Term] id: MONDO:0007866 name: Bart-Pumphrey syndrome subset: ordo_disease {source="Orphanet:2698"} synonym: "Bart-Pumphrey syndrome" EXACT [OMIM:149200, Orphanet:2698] synonym: "knuckle pads, leuconychia and sensorineural deafness" RELATED [GARD:0003125] synonym: "knuckle pads, leukonychia, and sensorineural deafness" EXACT [DOID:0050658, OMIM:149200] synonym: "knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome" RELATED [Orphanet:2698] synonym: "knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome" EXACT [Orphanet:2698] xref: DOID:0050658 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537210 {source="MONDO:equivalentTo"} xref: OMIM:149200 {source="Orphanet:2698", source="MONDO:equivalentTo", source="DOID:0050658", source="Orphanet:2698/e"} xref: Orphanet:2698 {source="OMIM:149200", source="MONDO:equivalentTo"} xref: SCTID:1271009 {source="MONDO:equivalentTo"} is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma property_value: exactMatch DOID:0050658 property_value: exactMatch http://identifiers.org/mesh/C537210 property_value: exactMatch http://identifiers.org/snomedct/1271009 property_value: exactMatch https://omim.org/entry/149200 property_value: exactMatch Orphanet:2698 [Term] id: MONDO:0007872 name: LADD syndrome def: "A multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations." [https://orcid.org/0000-0001-5208-3432, Orphanet:2363] subset: ordo_malformation_syndrome {source="Orphanet:2363"} synonym: "Lacrimo-auriculo-dento-digital syndrome" EXACT [GARD:0006848] synonym: "Lacrimoauriculodento-digital syndrome" EXACT [GARD:0006848] synonym: "LACRIMOAURICULODENTODIGITAL syndrome" EXACT [OMIMPS:149730] synonym: "lacrimoauriculodentodigital syndrome" EXACT [DOID:0050331, MONDO:Lexical, OMIMPS:149730] synonym: "Lacrimoauriculoradiodental syndrome" EXACT [Orphanet:2363] synonym: "LADD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "LADD syndrome" EXACT [Orphanet:2363] synonym: "lard syndrome" EXACT [Orphanet:2363] synonym: "Levy Hollister syndrome" EXACT [GARD:0006848] synonym: "Levy-Hollister syndrome" EXACT [DOID:0050331, Orphanet:2363] xref: DOID:0050331 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538132 {source="MONDO:equivalentTo"} xref: OMIMPS:149730 {source="MONDO:equivalentTo"} xref: Orphanet:2363 {source="OMIM:149730", source="MONDO:equivalentTo"} xref: SCTID:23817003 {source="MONDO:equivalentTo"} xref: UMLS:C0265269 {source="Orphanet:2363", source="OMIM:149730", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2363/e"} is_a: MONDO:0000426 {source="DOID:0050331", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0015161 {source="Orphanet:2363"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism property_value: exactMatch DOID:0050331 property_value: exactMatch http://identifiers.org/mesh/C538132 property_value: exactMatch http://identifiers.org/snomedct/23817003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265269 property_value: exactMatch https://omim.org/phenotypicSeries/PS149730 property_value: exactMatch Orphanet:2363 property_value: excluded_subClassOf MONDO:0015503 {source="Orphanet:2363"} property_value: excluded_subClassOf MONDO:0018562 {source="Orphanet:2363"} property_value: excluded_subClassOf MONDO:0020197 {source="Orphanet:2363"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0007874 name: trichorhinophalangeal syndrome type II def: "Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability." [Orphanet:502] subset: ordo_malformation_syndrome {source="Orphanet:502"} synonym: "chromosome 8Q24.1 deletion syndrome" RELATED [OMIM:150230] synonym: "deletion 8q24.1" EXACT [Orphanet:502] synonym: "Giedion-Langer syndrome" RELATED [GARD:0007801] synonym: "Langer Giedion syndrome" RELATED [GARD:0007801] synonym: "Langer-Giedion syndrome" EXACT [DOID:4998, OMIM:150230] synonym: "monosomy 8q24.1" EXACT [Orphanet:502] synonym: "trichorhinophalangeal dysplasia type II" EXACT [DOID:4998] synonym: "trichorhinophalangeal syndrome type 2" EXACT [Orphanet:502] synonym: "trichorhinophalangeal syndrome, type 2" RELATED [OMIM:150230] synonym: "trichorhinophalangeal syndrome, type II" RELATED [MONDO:Lexical, OMIM:150230] synonym: "TRPS 2" RELATED [GARD:0007801] synonym: "TRPS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:150230] xref: DOID:4998 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10050638 {source="Orphanet:502", source="Orphanet:502/e"} xref: MESH:D015826 {source="Orphanet:502", source="DOID:4998", source="MONDO:equivalentTo", source="Orphanet:502/e"} xref: NCIT:C75118 {source="DOID:4998", source="MONDO:equivalentTo"} xref: OMIM:150230 {source="Orphanet:502", source="DOID:4998", source="MONDO:equivalentTo", source="Orphanet:502/e"} xref: Orphanet:502 {source="MONDO:equivalentTo", source="OMIM:150230"} xref: SCTID:41069008 {source="DOID:4998", source="MONDO:equivalentTo"} xref: UMLS:C0023003 {source="NCIT:C75118", source="Orphanet:502", source="DOID:4998", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:502/e", source="OMIM:150230"} is_a: MONDO:0000426 {source="DOID:4998", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0015159 {source="Orphanet:502"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0016907 {source="Orphanet:502"} ! partial deletion of the long arm of chromosome 8 is_a: MONDO:0017951 {source="Orphanet:502"} ! trichorhinophalangeal syndrome disjoint_from: MONDO:0019176 ! trichorhinophalangeal syndrome type I or III property_value: closeMatch http://identifiers.org/meddra/10050638 property_value: exactMatch DOID:4998 property_value: exactMatch http://identifiers.org/mesh/D015826 property_value: exactMatch http://identifiers.org/snomedct/41069008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023003 property_value: exactMatch https://omim.org/entry/150230 property_value: exactMatch NCIT:C75118 property_value: exactMatch Orphanet:502 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:502"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0007875 name: Larsen syndrome def: "Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." [Orphanet:503] subset: gard_rare {source="GARD:0006860"} subset: ordo_malformation_syndrome {source="Orphanet:503"} synonym: "autosomal dominant Larsen syndrome" RELATED [GARD:0006860] synonym: "dominant Larsen syndrome" EXACT [DOID:14764] synonym: "Larsen syndrome" EXACT [MONDO:Lexical, OMIM:150250] synonym: "LRS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:150250] xref: DOID:14764 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C580241 {source="MONDO:equivalentTo"} xref: OMIM:150250 {source="Orphanet:503", source="MONDO:equivalentTo", source="Orphanet:503/e", source="DOID:14764"} xref: Orphanet:503 {source="MONDO:equivalentTo", source="OMIM:150250"} xref: SCTID:63387002 {source="MONDO:equivalentTo"} xref: UMLS:C0175778 {source="Orphanet:503", source="MONDO:equivalentTo"} is_a: MONDO:0000426 {source="DOID:14764", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0019690 {source="Orphanet:503", source="PMID:31633310"} ! filamin-related bone disorder is_a: MONDO:0019755 {source="MONDO:0015332-obsoleted"} ! developmental defect during embryogenesis property_value: exactMatch DOID:14764 property_value: exactMatch http://identifiers.org/mesh/C580241 property_value: exactMatch http://identifiers.org/snomedct/63387002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0175778 property_value: exactMatch https://omim.org/entry/150250 property_value: exactMatch Orphanet:503 property_value: excluded_subClassOf MONDO:0019700 {source="Orphanet:503"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6860/larsen-syndrome xsd:anyURI {source="GARD:0006860"} [Term] id: MONDO:0007878 name: congenital laryngomalacia def: "Increased collapsibility of the larynx." [NCIT:C98971] subset: ordo_malformation_syndrome {source="Orphanet:2373"} synonym: "congenital laryngeal stridor" RELATED [GARD:0006865] synonym: "laryngomalacia" RELATED [OMIM:150280] synonym: "laryngomalacia congenital" RELATED [GARD:0006865] xref: DOID:0080833 {source="MONDO:equivalentTo"} xref: ICD10CM:Q31.5 {source="Orphanet:2373/specific", source="Orphanet:2373/e", source="MONDO:equivalentTo", source="Orphanet:2373"} xref: ICD9:748.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10060786 {source="Orphanet:2373/e", source="Orphanet:2373"} xref: MESH:D055092 {source="Orphanet:2373/e", source="MONDO:equivalentTo", source="Orphanet:2373"} xref: NCIT:C98971 {source="MONDO:equivalentTo"} xref: OMIM:150280 {source="Orphanet:2373/e", source="MONDO:equivalentTo", source="Orphanet:2373"} xref: Orphanet:2373 {source="OMIM:150280", source="MONDO:equivalentTo"} xref: SCTID:253737007 {source="MONDO:equivalentTo"} is_a: MONDO:0015504 {source="Orphanet:2373"} ! larynx anomaly is_a: MONDO:0018562 {source="Orphanet:2373", source="Orphanet:2373/inferred"} ! hereditary otorhinolaryngological malformation property_value: closeMatch http://identifiers.org/meddra/10060786 property_value: exactMatch DOID:0080833 property_value: exactMatch http://identifiers.org/mesh/D055092 property_value: exactMatch http://identifiers.org/snomedct/253737007 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q31.5 property_value: exactMatch https://omim.org/entry/150280 property_value: exactMatch NCIT:C98971 property_value: exactMatch Orphanet:2373 [Term] id: MONDO:0007879 name: larynx atresia def: "A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation." [NCIT:C98972] subset: ordo_malformation_syndrome {source="Orphanet:1202"} synonym: "congenital atresia of larynx" EXACT [NCIT:C98972] synonym: "congenital atresia of the larynx" EXACT [NCIT:C98972] synonym: "congenital partial atresia of the larynx" RELATED [GARD:0003192] synonym: "laryngeal atresia" EXACT [NCIT:C98972] synonym: "larynx, congenital partial atresia OF" RELATED [OMIM:150300] xref: ICD9:748.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563637 {source="MONDO:equivalentTo"} xref: NCIT:C98972 {source="MONDO:equivalentTo"} xref: OMIM:150300 {source="Orphanet:1202", source="MONDO:equivalentTo", source="Orphanet:1202/e"} xref: Orphanet:1202 {source="MONDO:equivalentTo", source="OMIM:150300"} xref: SCTID:64981002 {source="MONDO:equivalentTo"} xref: UMLS:C0265756 {source="Orphanet:1202", source="MONDO:equivalentTo", source="NCIT:C98972", source="Orphanet:1202/e"} is_a: MONDO:0015504 {source="Orphanet:1202"} ! larynx anomaly is_a: MONDO:0018562 {source="Orphanet:1202", source="Orphanet:1202/inferred"} ! hereditary otorhinolaryngological malformation property_value: exactMatch http://identifiers.org/mesh/C563637 property_value: exactMatch http://identifiers.org/snomedct/64981002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265756 property_value: exactMatch https://omim.org/entry/150300 property_value: exactMatch NCIT:C98972 property_value: exactMatch Orphanet:1202 [Term] id: MONDO:0007880 name: congenital laryngeal web def: "Congenital laryngeal web is a rare malformation consisting of a membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords." [Orphanet:2374] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2374"} synonym: "gay Feinmesser Cohen syndrome" RELATED [GARD:0002446] synonym: "glottic web, congenital anterior" RELATED [OMIM:150360] synonym: "Laryngeal web" EXACT [NCIT:C98970] synonym: "laryngeal web, congenital heart disease and low stature" RELATED [GARD:0002446, MESH:C537676] synonym: "laryngeal web, familial" RELATED [OMIM:150360] synonym: "subglottic Bar" RELATED [OMIM:150360] synonym: "subglottic bar, congenital heart disease and low stature" RELATED [GARD:0002446, MESH:C537676] synonym: "subglottic web" RELATED [OMIM:150360] xref: MedDRA:10023871 {source="Orphanet:2374", source="Orphanet:2374/e"} xref: MESH:C537676 {source="MONDO:equivalentTo"} xref: MESH:C563636 {source="MONDO:equivalentTo"} xref: NCIT:C98970 {source="MONDO:equivalentTo"} xref: OMIM:150360 {source="Orphanet:2374", source="MONDO:equivalentTo", source="Orphanet:2374/e"} xref: Orphanet:2374 {source="MONDO:equivalentTo", source="OMIM:150360"} xref: SCTID:444921008 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease is_a: MONDO:0015504 {source="Orphanet:2374"} ! larynx anomaly is_a: MONDO:0018562 {source="Orphanet:2374", source="Orphanet:2374/inferred"} ! hereditary otorhinolaryngological malformation relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: closeMatch http://identifiers.org/meddra/10023871 property_value: exactMatch http://identifiers.org/mesh/C537676 property_value: exactMatch http://identifiers.org/mesh/C563636 property_value: exactMatch http://identifiers.org/snomedct/444921008 property_value: exactMatch https://omim.org/entry/150360 property_value: exactMatch NCIT:C98970 property_value: exactMatch Orphanet:2374 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2446/gay-feinmesser-cohen-syndrome xsd:anyURI {source="GARD:0002446"} [Term] id: MONDO:0007883 name: periodic fever, immunodeficiency, and thrombocytopenia syndrome synonym: "lazy leukocyte syndrome" EXACT DEPRECATED [OMIM:150550] xref: ICD9:288.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562721 {source="MONDO:equivalentTo"} xref: OMIM:150550 {source="MONDO:equivalentTo"} xref: SCTID:71436005 {source="MONDO:equivalentTo"} xref: UMLS:C0272174 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:150550"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C562721 property_value: exactMatch http://identifiers.org/snomedct/71436005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272174 property_value: exactMatch https://omim.org/entry/150550 [Term] id: MONDO:0007885 name: Legg-Calve-Perthes disease def: "A hip region disease that is characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children. In a small percentage of cases, mutations in the COL2A1 gene were found to be responsible." [GARD:0006874, Orphanet:2380] subset: gard_rare {source="GARD:0006874"} subset: ordo_disease {source="Orphanet:2380"} synonym: "aseptic necrosis of the capital femoral epiphysis" EXACT [Orphanet:2380] synonym: "Calve - Perthes' disease" EXACT [DOID:14415] synonym: "coxa plana" EXACT [DOID:14415] synonym: "juvenile osteochond-hip/pelvis" EXACT [DOID:14415] synonym: "juvenile osteochondrosis of hip and pelvis" EXACT [DOID:14415] synonym: "juvenile osteochondrosis of hip and/or pelvis" EXACT [DOID:14415] synonym: "Lcp" RELATED [OMIM:150600] synonym: "LCPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:150600] synonym: "Legg-CALVE-Perthes disease" RELATED [OMIM:150600] synonym: "Legg-Calve-Perthes disease" EXACT [MONDO:Lexical, OMIM:150600] synonym: "Legg-Calve-Perthes symptom" RELATED [DOID:14415] synonym: "Legg-Calve-Perthes syndrome" RELATED [GARD:0006874] synonym: "Legg-Calvé-Perthes disease" RELATED [Orphanet:2380] synonym: "Legg-Perthes disease" RELATED [OMIM:150600] synonym: "osteochondritis deformans" RELATED [GARD:0006874] synonym: "osteochondritis of the capital femoral epiphysis" EXACT [Orphanet:2380] synonym: "osteochondrosis of Legg-Calve-Perthes" EXACT [DOID:14415] synonym: "Osteochondrosis of the capital femoral epiphysis" EXACT [Orphanet:2380] synonym: "Perthe's disease" EXACT [DOID:14415, SCTID:270545000] synonym: "Perthes disease" EXACT [DOID:14415, NCIT:C34766, OMIM:150600, Orphanet:2380] synonym: "Pseudocoxalgia" EXACT [DOID:14415] synonym: "pseudocoxalgia" EXACT [DOID:14415] xref: DOID:14415 {source="MONDO:equivalentTo", source="EFO:0007341"} xref: EFO:0007341 {source="MONDO:equivalentTo"} xref: MedDRA:10034735 {source="Orphanet:2380/e", source="Orphanet:2380"} xref: MESH:D007873 {source="DOID:14415", source="MONDO:equivalentTo", source="EFO:0007341"} xref: NCIT:C34766 {source="DOID:14415", source="MONDO:equivalentTo"} xref: OMIM:150600 {source="Orphanet:2380/e", source="DOID:14415", source="MONDO:equivalentTo", source="Orphanet:2380"} xref: Orphanet:2380 {source="OMIM:150600", source="MONDO:equivalentTo"} xref: SCTID:15739006 {source="DOID:14415", source="MONDO:equivalentTo"} xref: UMLS:C0023234 {source="OMIM:150600", source="Orphanet:2380/e", source="DOID:14415", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2380", source="NCIT:C34766"} is_a: MONDO:0018385 ! osteochondrosis of genetic origin is_a: MONDO:0022800 {source="PMID:31633310"} ! type 2 collagenopathy relationship: disease_has_feature EFO:0004259 {source="DOID:14415/inferred", source="MESH:D007873/inferred", source="MONDO:Redundant", source="NCIT:C34766", source="Orphanet:2380/inferred"} ! osteonecrosis property_value: closeMatch http://identifiers.org/meddra/10034735 property_value: exactMatch DOID:14415 property_value: exactMatch http://identifiers.org/mesh/D007873 property_value: exactMatch http://identifiers.org/snomedct/15739006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023234 property_value: exactMatch https://omim.org/entry/150600 property_value: exactMatch NCIT:C34766 property_value: exactMatch Orphanet:2380 property_value: excluded_subClassOf MONDO:0019686 {source="Orphanet:2380"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6874/legg-calve-perthes-disease xsd:anyURI {source="GARD:0006874"} [Term] id: MONDO:0007888 name: hereditary leiomyomatosis and renal cell cancer def: "Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer." [Orphanet:523] subset: gard_rare subset: ordo_disease {source="Orphanet:523"} synonym: "familial leiomyomatosis" EXACT [MONDO:0023616] synonym: "familial leiomyomatosis and renal cell cancer" EXACT [Orphanet:523] synonym: "familial leiomyomatosis cutis et uteri" EXACT [Orphanet:523] synonym: "familial leiomyomatosis with renal carcinoma" EXACT [Orphanet:523] synonym: "familial multiple cutaneous leiomyomas" EXACT [Orphanet:523] synonym: "hereditary leiomyomatosis" EXACT [MONDO:patterns/hereditary, Orphanet:523] synonym: "hereditary leiomyomatosis and renal cell cancer" EXACT [MONDO:Lexical, OMIM:150800] synonym: "hereditary leiomyomatosis and renal cell cancer syndrome" EXACT [NCIT:C51302] synonym: "hereditary leiomyomatosis and renal cell carcinoma" EXACT [NCIT:C51302] synonym: "hereditary leiomyomatosis with renal carcinoma" EXACT [Orphanet:523] synonym: "hereditary multiple cutaneous leiomyomas" EXACT [Orphanet:523] synonym: "HLRCC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:150800, Orphanet:523] synonym: "leiomyoma, multiple cutaneous" RELATED [OMIM:150800] synonym: "leiomyomatosis and renal cell cancer" EXACT [OMIM:150800, OMIM:genemap2] synonym: "leiomyomatosis and renal cell cancer, hereditary" RELATED [OMIM:150800] synonym: "leiomyomatosis familial" RELATED [GARD:0003218] synonym: "LRCC" RELATED ABBREVIATION [GARD:0010096] synonym: "MCUL" EXACT ABBREVIATION [Orphanet:523] synonym: "multiple cutaneous and uterine leiomyomas" EXACT [Orphanet:523] synonym: "multiple cutaneous and uterine leiomyomata" RELATED [GARD:0010096] synonym: "multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma" RELATED [OMIM:150800] synonym: "multiple cutaneous leiomyomata" RELATED [GARD:0010096] synonym: "Reed syndrome" EXACT [Orphanet:523] synonym: "Reed's syndrome" RELATED [GARD:0010096] xref: MESH:C535516 {source="MONDO:equivalentTo"} xref: NCIT:C51302 {source="MONDO:equivalentTo"} xref: OMIM:150800 {source="Orphanet:523", source="MONDO:equivalentTo", source="Orphanet:523/e"} xref: Orphanet:523 {source="OMIM:150800", source="MONDO:equivalentTo"} xref: UMLS:C1708350 {source="OMIM:150800", source="Orphanet:523", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C51302"} xref: UMLS:CN073087 {source="MONDO:equivalentTo"} xref: UMLS:CN239164 {source="MONDO:equivalentTo"} is_a: EFO:1000050 ! renal leiomyoma is_a: MONDO:0003291 ! leiomyoma cutis is_a: MONDO:0003295 {source="MONDO:Redundant"} ! leiomyomatosis is_a: MONDO:0015950 {source="Orphanet:523"} ! inherited skin tumor is_a: MONDO:0017127 ! inherited soft tissue tumor is_a: MONDO:0017891 {source="Orphanet:523"} ! inherited renal cancer-predisposing syndrome property_value: exactMatch http://identifiers.org/mesh/C535516 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1708350 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN073087 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239164 property_value: exactMatch https://omim.org/entry/150800 property_value: exactMatch NCIT:C51302 property_value: exactMatch Orphanet:523 property_value: excluded_subClassOf MONDO:0019300 {source="Orphanet:523"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10096/hereditary-leiomyomatosis-and-renal-cell-cancer xsd:anyURI {source="GARD:0010096"} [Term] id: MONDO:0007891 name: familial generalized lentiginosis def: "Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa." [Orphanet:231040] subset: ordo_disease {source="Orphanet:231040"} synonym: "familial lentigines profusa" EXACT [Orphanet:231040] synonym: "familial multiple lentigines syndrome without systemic involvement" EXACT [Orphanet:231040] synonym: "lentiginosis profusa" RELATED [OMIM:151001] synonym: "lentiginosis, diffuse" RELATED [OMIM:151001] synonym: "lentiginosis, generalised" RELATED OMO:0003005 [] synonym: "lentiginosis, generalized" RELATED [OMIM:151001] synonym: "lentiginosis, inherited patterned" RELATED [OMIM:151001] xref: MESH:C573023 {source="MONDO:equivalentTo"} xref: OMIM:151001 {source="Orphanet:231040/e", source="MONDO:equivalentTo", source="Orphanet:231040"} xref: Orphanet:231040 {source="MONDO:equivalentTo", source="OMIM:151001"} xref: SCTID:765195000 {source="MONDO:equivalentTo"} xref: UMLS:C3492944 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:151001"} xref: UMLS:CN201466 {source="MONDO:equivalentTo"} is_a: MONDO:0019289 {source="Orphanet:231040"} ! hyperpigmentation of the skin property_value: exactMatch http://identifiers.org/mesh/C573023 property_value: exactMatch http://identifiers.org/snomedct/765195000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3492944 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201466 property_value: exactMatch https://omim.org/entry/151001 property_value: exactMatch Orphanet:231040 [Term] id: MONDO:0007892 name: Lenz-Majewski hyperostotic dwarfism def: "Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis." [Orphanet:2658] subset: gard_rare {source="GARD:0003223"} subset: ordo_malformation_syndrome {source="Orphanet:2658"} synonym: "hyperostotic dwarfism Lenz-Majewski type" RELATED [GARD:0003223] synonym: "Lenz Majewski hyperostotic dwarfism" RELATED [GARD:0003223] synonym: "Lenz-Majewski hyperostotic dwarfism" EXACT [MONDO:Lexical, OMIM:151050] synonym: "Lenz-Majewski hyperostotic dysplasia" RELATED [GARD:0003223] synonym: "Lenz-Majewski syndrome" RELATED [OMIM:151050] synonym: "LMHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:151050] synonym: "multiple congenital anomalies, intellectual disability and progressive skeletal sclerosis" RELATED [GARD:0003223] synonym: "multiple congenital anomalies, mental retardation and progressive skeletal sclerosis" RELATED DEPRECATED [GARD:0003223] xref: DOID:0111507 {source="MONDO:equivalentTo"} xref: MESH:C537115 {source="MONDO:equivalentTo", source="Orphanet:2658", source="Orphanet:2658/e"} xref: OMIM:151050 {source="MONDO:equivalentTo", source="Orphanet:2658", source="Orphanet:2658/e"} xref: Orphanet:2658 {source="OMIM:151050", source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:2658"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0800084 {source="PMID:31633310"} ! primary bone dysplasia with increased bone density property_value: exactMatch DOID:0111507 property_value: exactMatch http://identifiers.org/mesh/C537115 property_value: exactMatch https://omim.org/entry/151050 property_value: exactMatch Orphanet:2658 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2658"} property_value: excluded_subClassOf MONDO:0019703 {source="Orphanet:2658"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3223/lenz-majewski-hyperostotic-dwarfism xsd:anyURI {source="GARD:0003223"} [Term] id: MONDO:0007893 name: Noonan syndrome with multiple lentigines def: "A rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features." [https://orcid.org/0000-0001-5208-3432, Orphanet:500] subset: clingen subset: ordo_malformation_syndrome {source="Orphanet:500"} synonym: "Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome" EXACT [DOID:14291] synonym: "Cardiomyopathic lentiginosis" EXACT [Orphanet:500] synonym: "familial multiple lentigines syndrome" EXACT [Orphanet:500] synonym: "generalised lentiginosis" EXACT OMO:0003005 [] synonym: "generalized lentiginosis" EXACT [DOID:14291] synonym: "Gorlin syndrome II" EXACT [DOID:14291] synonym: "lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, Deafnes" RELATED [GARD:0001100] synonym: "lentigines, electrocardiographic conduction defects, 0cular hypertelorism, pulmonary stenosis, abnormalities of the genitals, retarded Growth, deafness" EXACT [NCIT:C84820] synonym: "lentiginosis profusa syndrome" EXACT [DOID:14291] synonym: "LEOPARD syndrome" EXACT [DOID:14291, MONDO:0001937, Orphanet:500] synonym: "Moynahan syndrome" RELATED [DOID:14291] synonym: "Noonan syndrome with multiple lentigines" EXACT [] synonym: "progressive cardiomyopathic lentiginosis" EXACT [DOID:14291] xref: DOID:14291 {source="MONDO:equivalentTo"} xref: ICD9:709.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10062901 {source="Orphanet:500", source="Orphanet:500/e"} xref: MESH:D044542 {source="Orphanet:500", source="DOID:14291", source="MONDO:equivalentTo", source="Orphanet:500/e"} xref: NCIT:C84820 {source="DOID:14291", source="MONDO:equivalentTo"} xref: OMIMPS:151100 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:500 {source="MONDO:equivalentTo", source="OMIM:151100"} xref: SCTID:111306001 {source="DOID:14291", source="MONDO:equivalentTo"} xref: UMLS:C0175704 {source="Orphanet:500", source="NCIT:C84820", source="DOID:14291", source="MONDO:equivalentTo", source="Orphanet:500/e", source="OMIM:151100"} xref: UMLS:CN074218 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000426 {source="DOID:14291", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84820"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:500"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0020297 {source="Orphanet:500"} ! Noonan syndrome and Noonan-related syndrome relationship: disease_has_feature MONDO:0019289 {source="Orphanet:500"} ! hyperpigmentation of the skin relationship: disease_has_feature MONDO:0020178 {source="Orphanet:500"} ! palpebral lentiginosis property_value: closeMatch http://identifiers.org/meddra/10062901 property_value: exactMatch DOID:14291 property_value: exactMatch http://identifiers.org/mesh/D044542 property_value: exactMatch http://identifiers.org/snomedct/111306001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0175704 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN074218 property_value: exactMatch https://omim.org/phenotypicSeries/PS151100 property_value: exactMatch NCIT:C84820 property_value: exactMatch Orphanet:500 [Term] id: MONDO:0007894 name: Leri pleonosteosis def: "Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner." [Orphanet:2900] subset: gard_rare {source="GARD:0000088"} subset: ordo_malformation_syndrome {source="Orphanet:2900"} synonym: "chromosome 8q22.1 DUPLICATION syndrome" RELATED [OMIM:151200] synonym: "Leri pleonosteosis" EXACT [OMIM:151200] synonym: "leri pleonosteosis chromosome duplication syndrome" EXACT [OMIM:151200, OMIM:genemap2] synonym: "Leri type pleonosteosis" RELATED [GARD:0000088] synonym: "Leri's pleonosteosis" RELATED [GARD:0000088] synonym: "pleonosteosis Leri type" RELATED [GARD:0000088] xref: MESH:C537118 {source="MONDO:equivalentTo", source="Orphanet:2900", source="Orphanet:2900/e"} xref: OMIM:151200 {source="MONDO:equivalentTo", source="Orphanet:2900", source="Orphanet:2900/e"} xref: Orphanet:2900 {source="MONDO:equivalentTo", source="OMIM:151200"} xref: UMLS:C1835450 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2900", source="OMIM:151200", source="Orphanet:2900/e"} is_a: MONDO:0019054 {source="GARD:0000088", source="Orphanet:2900"} ! congenital limb malformation is_a: MONDO:0019695 {source="PMID:31633310"} ! acromelic dysplasia property_value: exactMatch http://identifiers.org/mesh/C537118 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835450 property_value: exactMatch https://omim.org/entry/151200 property_value: exactMatch Orphanet:2900 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/88/leri-pleonosteosis xsd:anyURI {source="GARD:0000088"} [Term] id: MONDO:0007895 name: platyspondylic dysplasia, Torrance type subset: ordo_malformation_syndrome {source="Orphanet:85166"} synonym: "lethal short-limbed Platyspondylic dwarfism Torrance type" RELATED [GARD:0004382] synonym: "lethal short-limbed Platyspondylic dwarfism, Torrance type" RELATED [OMIM:151210] synonym: "platyspondylic dysplasia, Torrance type" EXACT [] synonym: "Platyspondylic dysplasia, Torrance-Luton type" EXACT [Orphanet:85166] synonym: "Platyspondylic lethal skeletal dysplasia Torrance type" RELATED [GARD:0004382] synonym: "Platyspondylic lethal skeletal dysplasia, Luton type" RELATED [OMIM:151210] synonym: "Platyspondylic lethal skeletal dysplasia, Torrance type" EXACT [MONDO:Lexical, OMIM:151210, Orphanet:85166] synonym: "platyspondylic skeletal dysplasia, Torrance type" EXACT [OMIM:151210, OMIM:genemap2] synonym: "PLSD-T" EXACT [Orphanet:85166] synonym: "PLSDT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:151210] synonym: "thanatophoric dysplasia Torrance variant" RELATED [GARD:0004382] synonym: "thanatophoric dysplasia, Luton variant" RELATED [OMIM:151210] synonym: "thanatophoric dysplasia, Torrance variant" RELATED [OMIM:151210] xref: DOID:0111508 {source="MONDO:equivalentTo"} xref: MESH:C563627 {source="MONDO:equivalentTo"} xref: OMIM:151210 {source="Orphanet:85166", source="MONDO:equivalentTo", source="Orphanet:85166/e"} xref: Orphanet:85166 {source="MONDO:equivalentTo", source="OMIM:151210"} xref: UMLS:C1835437 {source="Orphanet:85166", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:151210"} is_a: MONDO:0019694 {source="Orphanet:85166"} ! spondylodysplastic dysplasia is_a: MONDO:0022800 {source="Orphanet:85166", source="PMID:31633310"} ! type 2 collagenopathy property_value: exactMatch DOID:0111508 property_value: exactMatch http://identifiers.org/mesh/C563627 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835437 property_value: exactMatch https://omim.org/entry/151210 property_value: exactMatch Orphanet:85166 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0007899 name: lichen sclerosus et atrophicus def: "A chronic inflammatory process affecting the skin. It is characterized by the presence of white, indurated plaques, epidermal atrophy, and fibrosis of the upper dermis. It usually appears in the vulva and penis." [NCIT:C26817] synonym: "lichen sclerosis" RELATED [GARD:0006905] synonym: "lichen sclerosis et atrophicus" RELATED [GARD:0006905] synonym: "lichen sclerosus" RELATED [GARD:0006905] synonym: "lichen SCLEROSUS ET ATROPHICUS" RELATED [OMIM:151590] synonym: "lichen sclerosus et atrophicus" EXACT [MONDO:Lexical, OMIM:151590, Orphanet:33409] synonym: "LSA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:151590] xref: ICD10CM:L90.0 {source="MONDO:equivalentTo"} xref: MESH:D018459 {source="MONDO:equivalentTo"} xref: NCIT:C26817 {source="MONDO:equivalentTo"} xref: OMIM:151590 {source="MONDO:equivalentTo"} xref: Orphanet:33409 {source="MONDO:equivalentObsolete", source="OMIM:151590"} xref: SCTID:25674000 {source="MONDO:equivalentTo"} xref: UMLS:C0023652 {source="NCIT:C26817", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:151590"} is_a: MONDO:0002406 {source="NCIT:C26817"} ! dermatitis is_a: MONDO:0100118 ! hereditary skin disorder property_value: exactMatch http://identifiers.org/mesh/D018459 property_value: exactMatch http://identifiers.org/snomedct/25674000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023652 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L90.0 property_value: exactMatch https://omim.org/entry/151590 property_value: exactMatch NCIT:C26817 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0007902 name: lichen planus, familial def: "An instance of lichen planus that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] synonym: "hereditary lichen planus" EXACT [MONDO:patterns/hereditary] synonym: "lichen planus, familial" EXACT [OMIM:151620] xref: MESH:C563624 {source="MONDO:equivalentTo"} xref: OMIM:151620 {source="MONDO:equivalentTo"} xref: UMLS:C1835402 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:151620"} is_a: EFO:1000726 {source="MESH:C563624", source="MONDO:Redundant"} ! lichen planus is_a: MONDO:0100118 ! hereditary skin disorder intersection_of: EFO:1000726 ! lichen planus intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/mesh/C563624 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835402 property_value: exactMatch https://omim.org/entry/151620 [Term] id: MONDO:0007903 name: obsolete Li-Fraumeni syndrome 1 property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6269 xsd:anyURI is_obsolete: true replaced_by: MONDO:0018875 [Term] id: MONDO:0007904 name: median nodule of the upper lip def: "Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion." [Orphanet:2699] subset: gard_rare {source="GARD:0003440"} subset: ordo_malformation_syndrome {source="Orphanet:2699"} synonym: "LIP, MEDIAN NODULE of upper" RELATED [OMIM:151630] xref: OMIM:151630 {source="MONDO:equivalentTo", source="Orphanet:2699", source="Orphanet:2699/e"} xref: Orphanet:2699 {source="MONDO:equivalentTo", source="OMIM:151630"} xref: SCTID:722034006 {source="MONDO:equivalentTo"} xref: UMLS:C1835396 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:151630"} is_a: MONDO:0015161 {source="Orphanet:2699"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/snomedct/722034006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835396 property_value: exactMatch https://omim.org/entry/151630 property_value: exactMatch Orphanet:2699 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3440/median-nodule-of-the-upper-lip xsd:anyURI {source="GARD:0003440"} [Term] id: MONDO:0007906 name: familial partial lipodystrophy, Dunnigan type def: "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." [Orphanet:2348] subset: ordo_disease {source="Orphanet:2348"} synonym: "Dunnigan syndrome" EXACT [Orphanet:2348] synonym: "familial lipodystrophy of limbs and lower trunk" EXACT [DOID:0070202] synonym: "familial partial lipodystrophy Dunnigan type" EXACT [DOID:0070202] synonym: "familial partial lipodystrophy type 2" EXACT [Orphanet:2348] synonym: "FPL2" RELATED ABBREVIATION [OMIM:151660] synonym: "FPLD2" EXACT ABBREVIATION [DOID:0070202, MONDO:Lexical, OMIM:151660, Orphanet:2348] synonym: "lipodystrophy, familial partial, Dunnigan type" RELATED [OMIM:151660] synonym: "lipodystrophy, familial partial, type 2" RELATED [MONDO:Lexical, OMIM:151660] synonym: "lipodystrophy, familial, of limbs and Lower trunk" RELATED [OMIM:151660] synonym: "lipodystrophy, reverse partial" RELATED [OMIM:151660] synonym: "reverse partial lipodystrophy" EXACT [DOID:0070202] xref: DOID:0070202 {source="MONDO:equivalentTo"} xref: OMIM:151660 {source="MONDO:equivalentTo", source="Orphanet:2348", source="DOID:0070202", source="Orphanet:2348/e"} xref: Orphanet:2348 {source="MONDO:equivalentTo", source="DOID:0070202", source="OMIM:151660"} xref: SCTID:715439000 {source="MONDO:equivalentTo"} is_a: MONDO:0020088 {source="DC-OMIM:151660", source="DOID:0070202", source="OMIM:151660", source="Orphanet:2348"} ! familial partial lipodystrophy is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:2348", source="Orphanet:2348/inferred"} ! disorder of development or morphogenesis property_value: exactMatch DOID:0070202 property_value: exactMatch http://identifiers.org/snomedct/715439000 property_value: exactMatch https://omim.org/entry/151660 property_value: exactMatch Orphanet:2348 property_value: excluded_subClassOf MONDO:0015333 {source="Orphanet:2348"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1567 xsd:anyURI [Term] id: MONDO:0007909 name: familial multiple lipomatosis def: "Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported." [Orphanet:199276] subset: ordo_disease {source="Orphanet:199276"} synonym: "lipoma" RELATED [OMIM:151900] synonym: "lipomatosis, familial multiple" RELATED [OMIM:151900] synonym: "lipomatosis, multiple" RELATED [OMIM:151900] xref: ICD9:214.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:214.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D000071070 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: OMIM:151900 {source="Orphanet:199276", source="MONDO:equivalentTo", source="Orphanet:199276/e"} xref: Orphanet:199276 {source="OMIM:151900", source="MONDO:equivalentTo"} xref: SCTID:766888002 {source="MONDO:equivalentTo"} is_a: EFO:0000759 {source="MONDO:Redundant", source="OMIM:151900"} ! lipoma is_a: MONDO:0000652 {source="MONDO:Redundant", source="MONDO:indirect"} ! integumentary system benign neoplasm is_a: MONDO:0019296 {source="Orphanet:199276"} ! subcutaneous tissue disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0015949", source="MONDO:0020031"} ! rare property_value: exactMatch http://identifiers.org/mesh/D000071070 property_value: exactMatch http://identifiers.org/snomedct/766888002 property_value: exactMatch https://omim.org/entry/151900 property_value: exactMatch Orphanet:199276 [Term] id: MONDO:0007915 name: systemic lupus erythematosus def: "An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific." [NCIT:P378] subset: ordo_disease synonym: "disseminated lupus erythematosus" EXACT [DOID:9074] synonym: "excess LMW-DNA" RELATED [OMIM:152700] synonym: "excess lymphocyte low molecular weight DNA" RELATED [OMIM:152700] synonym: "lupus erythematosus, systemic" EXACT [DOID:9074, MTH:U002054] synonym: "lupus nephritis, susceptibility to" RELATED [OMIM:152700, OMIM:genemap2] synonym: "SLE" EXACT ABBREVIATION [MONDO:Lexical, OMIM:152700] synonym: "SLE - lupus erythematosus, systemic" EXACT [DOID:9074, NCIT:C3201] synonym: "systemic lupus erythematosus" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:152700] synonym: "systemic lupus erythematosus (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "systemic lupus erythematosus susceptibility to" EXACT [OMIM:152700, OMIM:genemap2] synonym: "systemic lupus erythematosus, susceptibility to" EXACT [OMIM:152700, OMIM:genemap2] xref: DOID:9074 {source="MONDO:equivalentTo", source="EFO:0002690"} xref: EFO:0002690 {source="DOID:9074", source="MONDO:equivalentTo"} xref: HP:0002725 {source="MONDO:otherHierarchy"} xref: ICD9:710.0 {source="DOID:9074", source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0002690"} xref: MESH:D008180 {source="Orphanet:536", source="DOID:9074", source="MONDO:equivalentTo", source="EFO:0002690"} xref: NCIT:C3201 {source="DOID:9074", source="MONDO:equivalentTo", source="EFO:0002690"} xref: OMIM:152700 {source="DOID:9074", source="MONDO:equivalentTo", source="EFO:0002690", source="https://orcid.org/0000-0002-6601-2165"} xref: Orphanet:536 {source="OMIM:152700", source="DOID:9074", source="MONDO:equivalentTo"} xref: SCTID:55464009 {source="DOID:9074", source="MONDO:equivalentTo", source="EFO:0002690"} is_a: EFO:0003086 ! kidney disease is_a: EFO:0005140 ! autoimmune disease is_a: MONDO:0004670 {source="DOID:9074", source="NCIT:C3201"} ! lupus erythematosus relationship: EFO:0000784 UBERON:0000982 ! has_disease_location skeletal joint property_value: exactMatch DOID:9074 property_value: exactMatch http://identifiers.org/mesh/D008180 property_value: exactMatch http://identifiers.org/snomedct/55464009 property_value: exactMatch https://omim.org/entry/152700 property_value: exactMatch NCIT:C3201 property_value: exactMatch Orphanet:536 property_value: excluded_subClassOf MONDO:0019724 {source="Orphanet:536"} property_value: excluded_subClassOf MONDO:0019737 {source="Orphanet:536"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000589 "systemic lupus erythematosus (disease)" xsd:string [Term] id: MONDO:0007916 name: primary intestinal lymphangiectasia def: "Primary intestinal lymphangiectasia (PIL) is a rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing enteropathy), asthenia, diarrhea, lymphedema and failure to thrive in children." [Orphanet:90362] subset: gard_rare {source="GARD:0007873"} subset: ordo_disease {source="Orphanet:90362"} synonym: "familial Waldmann's disease (type)" RELATED [GARD:0007873] synonym: "lymphangiectasia, intestinal" RELATED [OMIM:152800] synonym: "primary intestinal lymphangiectasis" RELATED [GARD:0007873] synonym: "Waldmann disease" EXACT [Orphanet:90362] synonym: "Waldmann's disease" RELATED [GARD:0007873] xref: ICD9:457.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:152800 {source="Orphanet:90362", source="MONDO:equivalentTo", source="Orphanet:90362/e"} xref: Orphanet:90362 {source="OMIM:152800", source="MONDO:equivalentTo"} xref: SCTID:6124009 {source="MONDO:equivalentTo"} xref: UMLS:C0267372 {source="Orphanet:90362", source="MONDO:equivalentTo", source="Orphanet:90362/e"} xref: UMLS:CN206410 {source="MONDO:equivalentTo"} is_a: MONDO:0018178 {source="Orphanet:90362"} ! intestinal lymphangiectasia property_value: exactMatch http://identifiers.org/snomedct/6124009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267372 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206410 property_value: exactMatch https://omim.org/entry/152800 property_value: exactMatch Orphanet:90362 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7873/primary-intestinal-lymphangiectasia xsd:anyURI {source="GARD:0007873"} [Term] id: MONDO:0007917 name: lymphedema-cerebral arteriovenous anomaly syndrome def: "Lymphedema-cerebral arteriovenous anomaly syndrome is characterized by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children." [Orphanet:86914] subset: ordo_malformation_syndrome {source="Orphanet:86914"} synonym: "lymphedema and cerebral arteriovenous anomaly" RELATED [OMIM:152900] synonym: "primary pulmonary hypertension, cerebrovascular malformation and lymphedema feet" RELATED [GARD:0009217] xref: MESH:C563612 {source="MONDO:equivalentTo"} xref: OMIM:152900 {source="Orphanet:86914/e", source="MONDO:equivalentTo", source="Orphanet:86914"} xref: Orphanet:86914 {source="OMIM:152900", source="MONDO:equivalentTo"} xref: UMLS:C1835272 {source="OMIM:152900", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:86914"} is_a: MONDO:0019520 {source="Orphanet:86914"} ! syndromic lymphedema property_value: exactMatch http://identifiers.org/mesh/C563612 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835272 property_value: exactMatch https://omim.org/entry/152900 property_value: exactMatch Orphanet:86914 [Term] id: MONDO:0007918 name: microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability def: "Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." [Orphanet:2526] subset: ordo_malformation_syndrome {source="Orphanet:2526"} synonym: "Cdmmr syndrome" RELATED [OMIM:152950] synonym: "chorioretinal dysplasia-microcephaly-intellectual disability syndrome" EXACT [DOID:0060349] synonym: "chorioretinal dysplasia-microcephaly-mental retardation syndrome" EXACT DEPRECATED [DOID:0060349] synonym: "lymphedema and retinal folds with ficrocephaly and microphthalmos" EXACT [DOID:0060349] synonym: "lymphedema and retinal Folds with microcephaly and microphthalmos" RELATED [OMIM:152950] synonym: "lymphedema, microcephaly and chorioretinopathy syndrome" EXACT [DOID:0060349, GARD:0003622] synonym: "lymphedema, microcephaly, chorioretinopathy syndrome" RELATED [OMIM:152950] synonym: "MCLMR" RELATED DEPRECATED [MONDO:Lexical, OMIM:152950] synonym: "microcephaly and chorioretinopathy with or without intellectual disability, autosomal dominant" RELATED [OMIM:152950] synonym: "microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant" RELATED DEPRECATED [OMIM:152950] synonym: "microcephaly lymphedema chorioretinal dysplasia" EXACT [DOID:0060349] synonym: "microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability" EXACT [MONDO:Lexical, OMIM:152950] synonym: "microcephaly with or without chorioretinopathy, lymphedema, or mental retardation" EXACT DEPRECATED [MONDO:Lexical, OMIM:152950] synonym: "microcephaly, lymphedema, chorioretinal dysplasia syndrome" EXACT [DOID:0060349, OMIM:152950] synonym: "microcephaly-lymphedema-chorioretinopathy syndrome" RELATED [Orphanet:2526] synonym: "MLCRD" EXACT ABBREVIATION [Orphanet:2526] synonym: "Mlcrd syndrome" RELATED [OMIM:152950] xref: DOID:0060349 {source="MONDO:equivalentTo"} xref: MESH:C537711 {source="MONDO:equivalentTo", source="DOID:0060349", source="Orphanet:2526", source="Orphanet:2526/e"} xref: OMIM:152950 {source="MONDO:equivalentTo", source="DOID:0060349", source="Orphanet:2526", source="Orphanet:2526/e"} xref: Orphanet:2526 {source="MONDO:equivalentTo", source="DOID:0060349", source="OMIM:152950"} xref: UMLS:C1835265 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:0060349", source="Orphanet:2526", source="OMIM:152950", source="Orphanet:2526/e"} is_a: MONDO:0019118 {source="Orphanet:2526"} ! inherited retinal dystrophy is_a: MONDO:0019313 ! lymphatic malformation is_a: MONDO:0019520 {source="MONDO:Redundant", source="Orphanet:2526"} ! syndromic lymphedema is_a: MONDO:0043218 ! neurovascular disorder relationship: disease_has_feature MONDO:0019118 ! inherited retinal dystrophy property_value: exactMatch DOID:0060349 property_value: exactMatch http://identifiers.org/mesh/C537711 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835265 property_value: exactMatch https://omim.org/entry/152950 property_value: exactMatch Orphanet:2526 [Term] id: MONDO:0007920 name: lymphatic malformation 5 def: "A frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty." [Orphanet:90186] subset: ordo_disease {source="Orphanet:90186"} synonym: "hereditary lymphedema type II" EXACT [Orphanet:90186] synonym: "late-onset lymphedema" EXACT [DOID:0070213] synonym: "late-onset primary lymphedema" EXACT [Orphanet:90186] synonym: "LMPH2" EXACT ABBREVIATION [DOID:0070213, MONDO:Lexical, OMIM:153200] synonym: "lymphedema hereditary type 2" RELATED [GARD:0003324] synonym: "lymphedema praecox" RELATED [OMIM:153200] synonym: "lymphedema preacox" EXACT [DOID:0070213] synonym: "lymphedema, hereditary, II" RELATED [MONDO:Lexical, OMIM:153200] synonym: "lymphedema, late-onset" RELATED [OMIM:153200] synonym: "Meige disease" EXACT [DOID:0070213, OMIM:153200] synonym: "Meige lymphedema" EXACT [DOID:0070213, OMIM:153200, Orphanet:90186] xref: DOID:0070213 {source="MONDO:equivalentTo"} xref: MedDRA:10027138 {source="Orphanet:90186", source="Orphanet:90186/e"} xref: MESH:C562467 {source="MONDO:equivalentTo"} xref: OMIM:153200 {source="Orphanet:90186", source="MONDO:equivalentTo", source="DOID:0070213", source="Orphanet:90186/e"} xref: Orphanet:90186 {source="MONDO:equivalentTo", source="DOID:0070213", source="OMIM:153200"} xref: SCTID:230325003 {source="DOID:3982", source="MONDO:relatedTo"} xref: SCTID:400040008 {source="MONDO:equivalentTo"} is_a: MONDO:0000486 {source="DOID:3982"} ! craniofacial dystonia is_a: MONDO:0019313 {source="DOID:0070213", source="OMIM:153200"} ! lymphatic malformation is_a: MONDO:0043218 ! neurovascular disorder is_a: MONDO:0044807 ! inherited dystonia property_value: closeMatch http://identifiers.org/meddra/10027138 property_value: exactMatch DOID:0070213 property_value: exactMatch http://identifiers.org/mesh/C562467 property_value: exactMatch http://identifiers.org/snomedct/400040008 property_value: exactMatch https://omim.org/entry/153200 property_value: exactMatch Orphanet:90186 [Term] id: MONDO:0007922 name: lymphedema-distichiasis syndrome def: "Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations." [Orphanet:33001] subset: gard_rare {source="GARD:0000333"} subset: ordo_malformation_syndrome {source="Orphanet:33001"} synonym: "hereditary lymphedema-distichiasis syndrome (subtype)" RELATED [GARD:0000333] synonym: "lymphedema with distichiasis" RELATED [OMIM:153400] synonym: "lymphedema-distichiasis syndrome" EXACT [OMIM:153400] synonym: "lymphedema-distichiasis syndrome with renal disease and diabetes mellitus" RELATED [OMIM:153400] xref: DOID:0111509 {source="MONDO:equivalentTo"} xref: ICD10CM:Q82.0 {source="Orphanet:33001/attributed", source="Orphanet:33001/ntbt", source="Orphanet:33001", source="MONDO:directSiblingOf"} xref: ICD9:743.63 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537710 {source="Orphanet:33001/e", source="MONDO:equivalentTo", source="Orphanet:33001"} xref: NCIT:C128191 {source="MONDO:equivalentTo"} xref: OMIM:153400 {source="Orphanet:33001/e", source="MONDO:equivalentTo", source="Orphanet:33001"} xref: Orphanet:33001 {source="MONDO:equivalentTo", source="OMIM:153400"} xref: SCTID:8634009 {source="MONDO:equivalentTo"} xref: UMLS:C0265345 {source="Orphanet:33001/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C128191", source="Orphanet:33001", source="OMIM:153400"} is_a: MONDO:0019313 ! lymphatic malformation is_a: MONDO:0019520 {source="MONDO:Redundant", source="Orphanet:33001"} ! syndromic lymphedema is_a: MONDO:0020162 {source="Orphanet:33001"} ! secondary ectropion property_value: exactMatch DOID:0111509 property_value: exactMatch http://identifiers.org/mesh/C537710 property_value: exactMatch http://identifiers.org/snomedct/8634009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265345 property_value: exactMatch https://omim.org/entry/153400 property_value: exactMatch NCIT:C128191 property_value: exactMatch Orphanet:33001 property_value: excluded_subClassOf MONDO:0020190 {source="Orphanet:33001"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/333/lymphedema-distichiasis-syndrome xsd:anyURI {source="GARD:0000333"} [Term] id: MONDO:0007924 name: Bannayan-Riley-Ruvalcaba syndrome def: "Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." [Orphanet:109] subset: gard_rare {source="GARD:0005887"} subset: ordo_malformation_syndrome {source="Orphanet:109"} synonym: "Bannayan syndrome" EXACT [NCIT:C3939] synonym: "Bannayan-Riley-Ruvalcaba syndrome" EXACT [MONDO:Lexical, NCIT:C3939, OMIM:153480] synonym: "Bannayan-Zonana syndrome" EXACT [DOID:0050657, NCIT:C3939, OMIM:153480] synonym: "BRRS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:153480, Orphanet:109] synonym: "BZS" RELATED ABBREVIATION [GARD:0005887] synonym: "macrocephaly multiple lipomas and hemangiomata" RELATED [GARD:0005887] synonym: "macrocephaly pseudopapilledema and multiple hemangiomas" RELATED [GARD:0005887] synonym: "macrocephaly with multiple lipomas and hemangiomas" EXACT [NCIT:C3939] synonym: "macrocephaly, multiple lipomas, and hemangiomata" RELATED [OMIM:153480] synonym: "macrocephaly, pseudopapilledema, and multiple hemangiomata" RELATED [OMIM:153480] synonym: "Myhre-Riley-Smith syndrome" EXACT [Orphanet:109] synonym: "RILEY-SMITH syndrome" EXACT [DOID:0050657] synonym: "Riley-Smith syndrome" RELATED [OMIM:153480] synonym: "RMSS" RELATED ABBREVIATION [GARD:0005887] synonym: "Ruvalcaba -Myhre-Smith syndrome" RELATED [GARD:0005887] synonym: "Ruvalcaba-MYHRE-SMITH syndrome" EXACT [DOID:0050657] synonym: "Ruvalcaba-Myhre-Smith syndrome" RELATED [OMIM:153480] xref: DOID:0050657 {source="MONDO:equivalentTo"} xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C3939 {source="MONDO:equivalentTo"} xref: OMIM:153480 {source="MONDO:equivalentObsolete", source="Orphanet:109", source="DOID:0050657", source="Orphanet:109/e"} xref: Orphanet:109 {source="OMIM:153480", source="MONDO:equivalentTo"} xref: SCTID:21984008 {source="MONDO:equivalentTo"} xref: UMLS:C0265326 {source="NCIT:C3939", source="OMIM:153480", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:109", source="Orphanet:109/e"} is_a: MONDO:0000426 {source="DOID:0050657", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0015159 {source="Orphanet:109"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015185 {source="Orphanet:109"} ! intestinal polyposis syndrome is_a: MONDO:0016229 {source="MONDO:Entailed", source="Orphanet:109", source="Orphanet:109/inferred"} ! hereditary vascular anomaly is_a: MONDO:0017623 {source="Orphanet:109"} ! PTEN hamartoma tumor syndrome is_a: MONDO:0018188 {source="Orphanet:109"} ! hereditary intestinal polyposis is_a: MONDO:0019716 {source="Orphanet:109"} ! overgrowth syndrome property_value: exactMatch DOID:0050657 property_value: exactMatch http://identifiers.org/snomedct/21984008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265326 property_value: exactMatch NCIT:C3939 property_value: exactMatch Orphanet:109 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:109"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5887/bannayan-riley-ruvalcaba-syndrome xsd:anyURI {source="GARD:0005887"} [Term] id: MONDO:0007927 name: congenital macroglossia subset: ordo_malformation_syndrome {source="Orphanet:2430"} synonym: "macroglossia" RELATED [OMIM:153630] xref: ICD9:750.15 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:C531735 {source="Orphanet:2430", source="MONDO:equivalentTo", source="Orphanet:2430/e"} xref: OMIM:153630 {source="Orphanet:2430", source="MONDO:equivalentTo", source="Orphanet:2430/e"} xref: Orphanet:2430 {source="MONDO:equivalentTo", source="OMIM:153630"} xref: SCTID:270516002 {source="MONDO:equivalentTo"} is_a: MONDO:0015496 {source="MESH:C531735", source="Orphanet:2430"} ! macroglossia property_value: exactMatch http://identifiers.org/mesh/C531735 property_value: exactMatch http://identifiers.org/snomedct/270516002 property_value: exactMatch https://omim.org/entry/153630 property_value: exactMatch Orphanet:2430 [Term] id: MONDO:0007931 name: vitelliform macular dystrophy 2 def: "Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region." [Orphanet:1243] subset: gard_rare subset: ordo_disease {source="Orphanet:1243"} synonym: "Best disease" EXACT [https://rarediseases.org/rare-diseases/best-vitelliform-macular-dystrophy/, Orphanet:1243] synonym: "Best macular dystrophy" EXACT [https://rarediseases.org/rare-diseases/best-vitelliform-macular-dystrophy/, Orphanet:1243] synonym: "Best vitelliform macular dystrophy, multifocal" RELATED [OMIM:153700] synonym: "BEST1 retinopathy" EXACT [GARD:0010301] synonym: "BMD" EXACT ABBREVIATION [Orphanet:1243] synonym: "BVMD" EXACT ABBREVIATION [GARD:0000182, Orphanet:1243] synonym: "early-onset vitelliform macular dystrophy" EXACT [Orphanet:1243] synonym: "juvenile-onset vitelliform macular dystrophy" EXACT [https://rarediseases.org/rare-diseases/best-vitelliform-macular-dystrophy/, Orphanet:1243] synonym: "macular Degeneration, polymorphic vitelline" RELATED [OMIM:153700] synonym: "macular degeneration, polymorphic vitelline" EXACT [GARD:0000182, https://rarediseases.org/rare-diseases/best-vitelliform-macular-dystrophy/] synonym: "macular dystrophy, vitelliform, 2" RELATED [MONDO:Lexical, OMIM:153700] synonym: "macular dystrophy, vitelliform, type 2" EXACT [MONDORULE:1, OMIM:153700] synonym: "polymorphic vitelline macular degeneration" EXACT [Orphanet:1243] synonym: "vitelliform macular dystrophy type 2" EXACT [GARD:0000182, Orphanet:1243] synonym: "vitelliform macular dystrophy, early-onset" EXACT [https://rarediseases.org/rare-diseases/best-vitelliform-macular-dystrophy/, OMIM:153700] synonym: "vitelliform macular dystrophy, juvenile-onset" EXACT [https://rarediseases.org/rare-diseases/best-vitelliform-macular-dystrophy/, OMIM:153700] synonym: "vitelliform macular dystrophy, type 2" NARROW [https://rarediseases.org/rare-diseases/best-vitelliform-macular-dystrophy/] synonym: "VMD2" RELATED ABBREVIATION [GARD:0000182, MONDO:Lexical, OMIM:153700] xref: ICD10CM:H35.5 {source="Orphanet:1243/ntbt", source="MONDO:relatedTo", source="Orphanet:1243", source="Orphanet:1243/inclusion"} xref: OMIM:153700 {source="Orphanet:1243", source="MONDO:equivalentTo", source="Orphanet:1243/e", source="GARD:0000182"} xref: Orphanet:1243 {source="MONDO:equivalentTo", source="GARD:0000182", source="OMIM:153700"} xref: SCTID:763387005 {source="MONDO:equivalentTo"} is_a: MONDO:0000390 {source="DC-OMIM:153700", source="OMIM:153700"} ! vitelliform macular dystrophy property_value: exactMatch http://identifiers.org/snomedct/763387005 property_value: exactMatch https://omim.org/entry/153700 property_value: exactMatch Orphanet:1243 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10301/best1-retinopathy xsd:anyURI {source="GARD:0010301"} [Term] id: MONDO:0007934 name: benign concentric annular macular dystrophy def: "Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bullBs eye configuration." [Orphanet:251287] subset: ordo_disease {source="Orphanet:251287"} synonym: "macular dystrophy, benign concentric annular" RELATED [OMIM:153870] synonym: "macular dystrophy, concentric annular" RELATED [OMIM:153870] synonym: "maculopathy, bull's eye" RELATED [GARD:0009887] synonym: "Mcdca" RELATED [OMIM:153870] synonym: "retinitis pigmentosa 91" EXACT [OMIM:153870, OMIM:genemap2] xref: ICD10CM:H35.5 {source="Orphanet:251287/attributed", source="Orphanet:251287/ntbt", source="MONDO:relatedTo", source="Orphanet:251287"} xref: MESH:C537833 {source="MONDO:equivalentTo"} xref: OMIM:153870 {source="Orphanet:251287", source="MONDO:equivalentTo", source="Orphanet:251287/e"} xref: Orphanet:251287 {source="MONDO:equivalentTo", source="OMIM:153870"} xref: SCTID:719520001 {source="MONDO:equivalentTo"} xref: UMLS:C4304667 {source="MONDO:equivalentTo"} is_a: MONDO:0020242 {source="Orphanet:251287"} ! hereditary macular dystrophy property_value: exactMatch http://identifiers.org/mesh/C537833 property_value: exactMatch http://identifiers.org/snomedct/719520001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304667 property_value: exactMatch https://omim.org/entry/153870 property_value: exactMatch Orphanet:251287 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007935 name: cystoid macular edema def: "An autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa. It is associated with a poor visual prognosis." [Orphanet:75381] subset: ordo_disease {source="Orphanet:75381"} synonym: "autosomal dominant cystoid macular edema" EXACT [Orphanet:75381] synonym: "autosomal dominant cystoid macular oedema" EXACT OMO:0003005 [] synonym: "cystoid macular dystrophy" RELATED [OMIM:153880] synonym: "DCMD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:153880, Orphanet:75381] synonym: "familial macular edema" EXACT [Orphanet:75381] synonym: "familial macular oedema" EXACT OMO:0003005 [] synonym: "macular dystrophy, dominant cystoid" RELATED [MONDO:Lexical, OMIM:153880] synonym: "macular edema, cystoid" RELATED [OMIM:153880] synonym: "Mddc" RELATED [OMIM:153880] xref: DOID:4447 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:75381/attributed", source="Orphanet:75381/ntbt", source="Orphanet:75381"} xref: NCIT:C34794 {source="MONDO:equivalentTo", source="DOID:4447"} xref: OMIM:153880 {source="Orphanet:75381/e", source="MONDO:equivalentTo", source="DOID:4447", source="Orphanet:75381"} xref: Orphanet:75381 {source="MONDO:equivalentTo", source="OMIM:153880"} xref: SCTID:312921000 {source="MONDO:equivalentTo"} xref: UMLS:C0024440 {source="MONDO:equivalentTo", source="NCIT:C34794", source="DOID:4447", source="MONDO:ncbi_mim2gene_medline", source="OMIM:153880"} xref: UMLS:C0730317 {source="MONDO:equivalentTo"} is_a: MONDO:0003005 {source="DOID:4447", source="NCIT:C34794"} ! macular retinal edema property_value: exactMatch DOID:4447 property_value: exactMatch http://identifiers.org/snomedct/312921000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024440 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0730317 property_value: exactMatch https://omim.org/entry/153880 property_value: exactMatch NCIT:C34794 property_value: exactMatch Orphanet:75381 [Term] id: MONDO:0007937 name: renal hypomagnesemia 2 def: "Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed." [Orphanet:34528] subset: gard_rare {source="GARD:0003350"} subset: ordo_disease {source="Orphanet:34528"} synonym: "autosomal dominant primary hypomagnesemia with hypocalciuria" RELATED [DOID:0060885] synonym: "familial primary hypomagnesemia caused by mutation in FXYD2" EXACT [] synonym: "FXYD2 familial primary hypomagnesemia" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "FXYD2 primary hypomagnesemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "HOMG2" EXACT ABBREVIATION [DOID:0060885, MONDO:Lexical, OMIM:154020, Orphanet:34528] synonym: "hypomagnesemia 2, renal" RELATED [MONDO:Lexical, OMIM:154020] synonym: "isolated autosomal dominant hypomagnesemia" EXACT [Orphanet:34528] synonym: "isolated renal magnesium wasting" EXACT [Orphanet:34528] synonym: "magnesium loss, isolated renal" RELATED [OMIM:154020] synonym: "magnesium wasting, renal" RELATED [OMIM:154020] synonym: "primary hypomagnesemia caused by mutation in FXYD2" EXACT [MONDO:design_pattern] synonym: "renal hypomagnesemia type 2" EXACT [DOID:0060885, MONDORULE:1, Orphanet:34528] xref: DOID:0060885 {source="MONDO:equivalentTo"} xref: MESH:C537152 {source="MONDO:equivalentTo"} xref: OMIM:154020 {source="MONDO:equivalentTo", source="DOID:0060885", source="Orphanet:34528", source="Orphanet:34528/e"} xref: Orphanet:34528 {source="OMIM:154020", source="MONDO:equivalentTo", source="DOID:0060885"} xref: SCTID:725393000 {source="MONDO:equivalentTo"} xref: UMLS:C1835171 {source="OMIM:154020", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:34528"} xref: UMLS:C4511005 {source="MONDO:equivalentTo"} is_a: MONDO:0017625 {source="Orphanet:34528"} ! familial primary hypomagnesemia with hypocalcuria property_value: exactMatch DOID:0060885 property_value: exactMatch http://identifiers.org/mesh/C537152 property_value: exactMatch http://identifiers.org/snomedct/725393000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835171 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4511005 property_value: exactMatch https://omim.org/entry/154020 property_value: exactMatch Orphanet:34528 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3350/renal-hypomagnesemia-2 xsd:anyURI {source="GARD:0003350"} [Term] id: MONDO:0007943 name: Nager acrofacial dysostosis def: "Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." [Orphanet:245] subset: gard_rare {source="GARD:0000498"} subset: ordo_malformation_syndrome {source="Orphanet:245"} synonym: "acrofacial dysostosis 1, Nager type" EXACT [DOID:5768, MONDO:Lexical, OMIM:154400] synonym: "AFD" RELATED ABBREVIATION [DOID:5768] synonym: "AFD, Nager type" RELATED [OMIM:154400] synonym: "AFD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:154400] synonym: "mandibulofacial dysostosis with preaxial limb anomalies" EXACT [Orphanet:245] synonym: "mandibulofacial dysostosis, Treacher Collins type, with limb anomalies" RELATED [OMIM:154400] synonym: "NAFD" EXACT ABBREVIATION [Orphanet:245] synonym: "Nager acrofacial dysostosis" EXACT [OMIM:154400, Orphanet:245] synonym: "Nager acrofacial dysostosis syndrome" RELATED [GARD:0000498] synonym: "Nager syndrome" RELATED [DOID:5768, OMIM:154400] synonym: "preaxial acrodysostosis" EXACT [Orphanet:245] synonym: "preaxial acrofacial dysostosis" RELATED [DOID:5768] synonym: "preaxial manibulofacial dysostosis" RELATED [DOID:5768] synonym: "split hand deformity-mandibulofacial dysostosis" RELATED [GARD:0000498] xref: DOID:5768 {source="MONDO:equivalentTo"} xref: MESH:C538184 {source="Orphanet:245/e", source="MONDO:equivalentTo", source="Orphanet:245"} xref: OMIM:154400 {source="Orphanet:245/e", source="DOID:5768", source="MONDO:equivalentTo", source="Orphanet:245"} xref: Orphanet:245 {source="MONDO:equivalentTo", source="OMIM:154400"} xref: SCTID:35520007 {source="MONDO:equivalentTo"} xref: UMLS:C0265245 {source="Orphanet:245/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:154400", source="Orphanet:245"} is_a: MONDO:0015161 {source="Orphanet:245"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015334 {source="Orphanet:245"} ! branchial arch or oral-acral syndrome is_a: MONDO:0018187 ! hereditary syndromic Pierre Robin syndrome is_a: MONDO:0018237 {source="DC-OMIM:154400", source="DOID:5768", source="Orphanet:245"} ! acrofacial dysostosis is_a: MONDO:0018751 ! hereditary otorhinolaryngologic disease is_a: MONDO:0020157 {source="Orphanet:245"} ! syndromic palpebral coloboma is_a: MONDO:0020167 {source="Orphanet:245"} ! malposition of external canthus is_a: MONDO:0800085 {source="PMID:31633310"} ! dysostosis with predominant craniofacial involvement property_value: exactMatch DOID:5768 property_value: exactMatch http://identifiers.org/mesh/C538184 property_value: exactMatch http://identifiers.org/snomedct/35520007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265245 property_value: exactMatch https://omim.org/entry/154400 property_value: exactMatch Orphanet:245 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/498/nager-acrofacial-dysostosis xsd:anyURI {source="GARD:0000498"} [Term] id: MONDO:0007946 name: jaw-winking syndrome def: "Marcus-Gunn syndrome is characterized by ptosis associated with maxillopalpebral synkinesis." [Orphanet:91412] subset: ordo_disease {source="Orphanet:91412"} synonym: "abnormal innervation syndrome of eyelid" RELATED [DOID:560, ICD9CM:374.43] synonym: "familial Marcus Gunn phenomenon (subtype)" RELATED [GARD:0006972] synonym: "jaw-blinking" EXACT [DOID:560] synonym: "jaw-winking" RELATED [OMIM:154600] synonym: "jaw-winking syndrome" EXACT [Orphanet:91412] synonym: "mandibulo-palpebral synkinesis-ptosis syndrome" EXACT [Orphanet:91412] synonym: "Marcus Gunn phenomenon" RELATED [OMIM:154600] synonym: "Marcus Gunn syndrome" RELATED [GARD:0006972] synonym: "Marcus-Gunn phenomenon" EXACT [Orphanet:91412] synonym: "Marcus-Gunn syndrome" EXACT [DOID:560] synonym: "Maxillopalpebral synkinesis" RELATED [OMIM:154600] synonym: "pterygoid-levator synkinesis" EXACT [DOID:560] xref: DOID:560 {source="MONDO:equivalentTo"} xref: ICD9:374.43 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:560"} xref: ICD9:742.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10064583 {source="Orphanet:91412", source="Orphanet:91412/e"} xref: MESH:C535908 {source="MONDO:equivalentTo", source="DOID:560"} xref: OMIM:154600 {source="MONDO:equivalentTo", source="Orphanet:91412", source="DOID:560", source="Orphanet:91412/e"} xref: Orphanet:91412 {source="MONDO:equivalentTo", source="OMIM:154600"} xref: SCTID:5127009 {source="MONDO:equivalentTo", source="DOID:560"} xref: UMLS:C0266521 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:91412", source="DOID:560", source="OMIM:154600"} is_a: MONDO:0003569 {source="DOID:560"} ! cranial nerve neuropathy is_a: MONDO:0020158 {source="MONDO:0020169-obsoleted"} ! eyelids malposition disorder property_value: closeMatch http://identifiers.org/meddra/10064583 property_value: exactMatch DOID:560 property_value: exactMatch http://identifiers.org/mesh/C535908 property_value: exactMatch http://identifiers.org/snomedct/5127009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266521 property_value: exactMatch https://omim.org/entry/154600 property_value: exactMatch Orphanet:91412 [Term] id: MONDO:0007947 name: Marfan syndrome def: "A disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person." [https://rarediseases.info.nih.gov/diseases/6975/marfan-syndrome] subset: clingen subset: gard_rare {source="GARD:0006975"} subset: ordo_clinical_subtype {source="Orphanet:284963"} subset: ordo_disease {source="Orphanet:558"} subset: prototype_pattern {source="https://github.com/monarch-initiative/monarch-disease-ontology/issues/101"} synonym: "Marfan syndrome" EXACT [MONDO:Lexical, OMIM:154700] synonym: "Marfan syndrome type 1" EXACT [Orphanet:284963] synonym: "Marfan syndrome, type 1" EXACT [OMIM:154700] synonym: "Marfan's syndrome" EXACT [DOID:14323] synonym: "MFS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:154700, Orphanet:558] synonym: "MFS1" EXACT ABBREVIATION [Orphanet:284963] xref: DOID:14323 {source="MONDO:equivalentTo"} xref: ICD9:759.82 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14323"} xref: MedDRA:10026829 {source="Orphanet:558", source="Orphanet:558/e"} xref: MESH:D008382 {source="Orphanet:558", source="MONDO:equivalentTo", source="Orphanet:558/e", source="DOID:14323"} xref: NCIT:C34807 {source="MONDO:equivalentTo", source="DOID:14323"} xref: OMIM:154700 {source="Orphanet:558/btnt", source="Orphanet:284963/e", source="Orphanet:558", source="MONDO:equivalentTo", source="Orphanet:284963", source="DOID:14323"} xref: Orphanet:284963 {source="MONDO:equivalentTo", source="OMIM:154700"} xref: Orphanet:558 {source="MONDO:equivalentTo", source="OMIM:154700"} xref: SCTID:19346006 {source="MONDO:equivalentTo", source="DOID:14323"} xref: UMLS:C0024796 {source="NCIT:C34807", source="Orphanet:558", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:558/e", source="DOID:14323", source="OMIM:154700"} xref: UMLS:CN202883 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 {source="DOID:14323", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C34807"} ! syndromic disease is_a: MONDO:0017310 {source="Orphanet:284963/inferred", source="Orphanet:558"} ! Marfan and Marfan-related disorder is_a: MONDO:0800091 {source="PMID:31633310"} ! overgrowth or tall stature syndrome with skeletal involvement property_value: closeMatch http://identifiers.org/meddra/10026829 property_value: exactMatch DOID:14323 property_value: exactMatch http://identifiers.org/mesh/D008382 property_value: exactMatch http://identifiers.org/snomedct/19346006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024796 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202883 property_value: exactMatch https://omim.org/entry/154700 property_value: exactMatch NCIT:C34807 property_value: exactMatch Orphanet:284963 property_value: exactMatch Orphanet:558 property_value: excluded_subClassOf MONDO:0017311 {source="Orphanet:284963/inferred", source="Orphanet:558"} property_value: excluded_subClassOf MONDO:0019755 {source="MONDO:0015332-obsoleted"} property_value: excluded_subClassOf MONDO:0020208 {source="Orphanet:284963/inferred", source="Orphanet:558"} property_value: excluded_subClassOf MONDO:0020211 {source="Orphanet:284963/inferred", source="Orphanet:558"} property_value: excluded_subClassOf MONDO:0020236 {source="Orphanet:558"} property_value: excluded_synonym "Contractural arachnodactyly" xsd:string {source="GARD:0006975"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3155 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6975/marfan-syndrome xsd:anyURI {source="GARD:0006975"} [Term] id: MONDO:0007949 name: Marshall syndrome def: "Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis." [Orphanet:560] subset: ordo_malformation_syndrome {source="Orphanet:560"} synonym: "deafness, myopia, cataract, saddle nose-Marshall type" RELATED [GARD:0006984] synonym: "Marshall syndrome" EXACT [MONDO:Lexical, OMIM:154780] synonym: "MRSHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:154780] xref: DOID:0111510 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536025 {source="Orphanet:560/e", source="MONDO:equivalentTo", source="Orphanet:560"} xref: NCIT:C128115 {source="MONDO:equivalentTo"} xref: OMIM:154780 {source="Orphanet:560/e", source="MONDO:equivalentTo", source="Orphanet:560"} xref: Orphanet:560 {source="MONDO:equivalentTo", source="OMIM:154780"} xref: SCTID:33410002 {source="MONDO:equivalentTo"} xref: UMLS:C0265235 {source="Orphanet:560/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C128115", source="OMIM:154780", source="Orphanet:560"} is_a: EFO:0003966 {source="MONDO:0020222-obsoleted"} ! eye disease is_a: MONDO:0015161 {source="Orphanet:560"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0016761 {source="Orphanet:560"} ! spondyloepiphyseal dysplasia is_a: MONDO:0019287 {source="Orphanet:560"} ! ectodermal dysplasia syndrome is_a: MONDO:0800087 {source="PMID:31633310"} ! type 11 collagen-related bone disorder property_value: exactMatch DOID:0111510 property_value: exactMatch http://identifiers.org/mesh/C536025 property_value: exactMatch http://identifiers.org/snomedct/33410002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265235 property_value: exactMatch https://omim.org/entry/154780 property_value: exactMatch NCIT:C128115 property_value: exactMatch Orphanet:560 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0007953 name: Binder syndrome def: "A rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex." [Orphanet:1248] subset: ordo_malformation_syndrome {source="Orphanet:1248"} synonym: "Binder syndrome" EXACT [Orphanet:1248] synonym: "binder syndrome" EXACT [OMIM:155050] synonym: "binder type maxillonasal dysplasia" EXACT [DOID:14683] synonym: "Maxillonasal dysostosis" EXACT [Orphanet:1248] synonym: "maxillonasal dysplasia" RELATED [Orphanet:1248] synonym: "MAXILLONASAL dysplasia, BINDER type" RELATED [OMIM:155050] xref: DOID:14683 {source="MONDO:equivalentTo"} xref: MESH:C536036 {source="MONDO:equivalentTo", source="DOID:14683"} xref: OMIM:155050 {source="MONDO:equivalentTo", source="Orphanet:1248", source="DOID:14683", source="Orphanet:1248/e"} xref: Orphanet:1248 {source="OMIM:155050", source="MONDO:equivalentTo"} xref: SCTID:715985008 {source="MONDO:equivalentTo"} xref: UMLS:C0220692 {source="OMIM:155050", source="MONDO:equivalentTo", source="Orphanet:1248", source="MONDO:ncbi_mim2gene_medline", source="DOID:14683"} is_a: MONDO:0002232 {source="DOID:14683"} ! nasal cavity disorder is_a: MONDO:0015161 {source="Orphanet:1248"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability property_value: exactMatch DOID:14683 property_value: exactMatch http://identifiers.org/mesh/C536036 property_value: exactMatch http://identifiers.org/snomedct/715985008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220692 property_value: exactMatch https://omim.org/entry/155050 property_value: exactMatch Orphanet:1248 property_value: excluded_subClassOf MONDO:0015501 {source="Orphanet:1248"} [Term] id: MONDO:0007954 name: obsolete May-Hegglin anomaly property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1376 xsd:anyURI is_obsolete: true replaced_by: MONDO:0015912 [Term] id: MONDO:0007956 name: Pai syndrome def: "Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development." [Orphanet:1993] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1993"} synonym: "cleft, MEDIAN, of upper LIP with polyps of facial skin and nasal mucosa" RELATED [OMIM:155145] synonym: "cleft, Median, of upper lip with polyps of Facial skin and nasal mucosa" RELATED [OMIM:155145] synonym: "median cleft of the upper lip-corpus callosum lipoma-cutaneous polyps syndrome" EXACT [GARD:0003439, Orphanet:1993] synonym: "median cleft of upper lip with polyps of facial skin and nasal mucosa" RELATED [GARD:0003439] synonym: "Pai syndrome" EXACT [GARD:0003439, OMIM:155145] xref: MESH:C536135 {source="MONDO:equivalentTo"} xref: OMIM:155145 {source="Orphanet:1993", source="MONDO:equivalentTo", source="GARD:0003439", source="Orphanet:1993/e"} xref: Orphanet:1993 {source="MONDO:equivalentTo", source="GARD:0003439", source="OMIM:155145"} xref: SCTID:722201004 {source="MONDO:equivalentTo"} xref: UMLS:C1835087 {source="Orphanet:1993", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="GARD:0003439", source="OMIM:155145", source="Orphanet:1993/e"} is_a: MONDO:0016643 {source="Orphanet:1993"} ! frontonasal dysplasia property_value: exactMatch http://identifiers.org/mesh/C536135 property_value: exactMatch http://identifiers.org/snomedct/722201004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835087 property_value: exactMatch https://omim.org/entry/155145 property_value: exactMatch Orphanet:1993 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3439/median-cleft-of-upper-lip-with-polyps-of-facial-skin-and-nasal-mucosa xsd:anyURI {source="GARD:0003439"} [Term] id: MONDO:0007958 name: familial medullary thyroid carcinoma def: "An instance of thyroid medullary carcinoma that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: ordo_clinical_subtype {source="Orphanet:99361"} synonym: "familial medullary thyroid carcinoma" EXACT [] synonym: "familial MTC" EXACT [Orphanet:99361] synonym: "Fmtc" RELATED [OMIM:155240] synonym: "hereditary medullary thyroid gland carcinoma" EXACT [MONDO:patterns/hereditary] synonym: "hereditary thyroid medullary carcinoma" EXACT [MONDO:patterns/hereditary] synonym: "medullary thyroid carcinoma" BROAD [OMIM:155240, OMIM:genemap2] synonym: "MTC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:155240] synonym: "Mtc1" RELATED [OMIM:155240] synonym: "thyroid carcinoma, familial medullary" EXACT [DOID:0050547, MONDO:Lexical, OMIM:155240] xref: DOID:0050547 {source="MONDO:equivalentTo"} xref: MESH:C536911 {source="Orphanet:99361/e", source="MONDO:equivalentTo", source="Orphanet:99361"} xref: OMIM:155240 {source="Orphanet:99361/e", source="MONDO:equivalentTo", source="DOID:0050547", source="Orphanet:99361"} xref: Orphanet:99361 {source="OMIM:155240", source="MONDO:equivalentTo"} xref: UMLS:C1833921 {source="Orphanet:99361/e", source="OMIM:155240", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:99361"} is_a: MONDO:0015277 {source="DOID:0050547", source="MONDO:Redundant"} ! medullary thyroid gland carcinoma is_a: MONDO:0019003 {source="Orphanet:99361"} ! multiple endocrine neoplasia type 2 is_a: MONDO:0025511 ! inherited neuroendocrine tumor intersection_of: MONDO:0015277 ! medullary thyroid gland carcinoma intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch DOID:0050547 property_value: exactMatch http://identifiers.org/mesh/C536911 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833921 property_value: exactMatch https://omim.org/entry/155240 property_value: exactMatch Orphanet:99361 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007960 name: obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome property_value: IAO:0000231 IAO:0000229 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3154 xsd:anyURI is_obsolete: true replaced_by: MONDO:0100354 [Term] id: MONDO:0007962 name: megalodactyly def: "A condition in which a finger or toe is larger than normal size secondary to excessive growth of the anatomical structures or abnormal accumulation of substances." [NCIT:C48900] synonym: "macrodactyly" RELATED [OMIM:155500] synonym: "macrodactyly, somatic, (3), cerebral cavernous malformations 4, somatic" EXACT [OMIM:155500, OMIM:genemap2] synonym: "Megalodactyly" EXACT [OMIM:155500] xref: MESH:C562546 {source="MONDO:equivalentTo"} xref: NCIT:C48900 {source="MONDO:equivalentTo"} xref: OMIM:155500 {source="MONDO:equivalentTo"} xref: SCTID:48449000 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIM:155500"} ! genetic disorder is_a: MONDO:0035162 {source="https://orcid.org/0000-0003-1493-865X"} ! PIK3CA-related overgrowth syndrome property_value: exactMatch http://identifiers.org/mesh/C562546 property_value: exactMatch http://identifiers.org/snomedct/48449000 property_value: exactMatch https://omim.org/entry/155500 property_value: exactMatch NCIT:C48900 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5210 xsd:anyURI [Term] id: MONDO:0007964 name: melanoma, cutaneous malignant, susceptibility to, 2 def: "Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed)" [MESH:D004416] subset: predisposition synonym: "Atypical Mole syndrome" EXACT [NCIT:C7584] synonym: "B-K Mole syndrome" EXACT [NCIT:C7584] synonym: "CMM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:155601] synonym: "dysplastic nevus syndrome" EXACT [NCIT:C7584] synonym: "familial dysplastic nevi" EXACT [NCIT:C7584] synonym: "melanoma, cutaneous malignant, 2" EXACT [OMIM:155601, OMIM:genemap2] synonym: "melanoma, cutaneous malignant, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:155601] synonym: "melanoma, cutaneous malignant, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:155601] synonym: "susceptibility to cutaneous malignant melanoma 2" RELATED [OMIM:155601] xref: DOID:10041 {source="MONDO:equivalentTo"} xref: EFO:0004199 {source="MONDO:equivalentTo"} xref: MESH:D004416 {source="MONDO:equivalentTo", source="DOID:10041"} xref: NCIT:C7584 {source="MONDO:equivalentTo"} xref: OMIM:155601 {source="MONDO:equivalentTo", source="DOID:10041"} is_a: MONDO:0020573 {source="OMIM:155601"} ! inherited disease susceptibility relationship: predisposes_towards EFO:0000389 {source="https://orcid.org/0000-0002-4142-7153"} ! cutaneous melanoma property_value: exactMatch DOID:10041 property_value: exactMatch http://identifiers.org/mesh/D004416 property_value: exactMatch https://omim.org/entry/155601 property_value: exactMatch NCIT:C7584 property_value: excluded_subClassOf MONDO:0000426 {source="DOID:10041", source="OMIM:155601"} property_value: excluded_subClassOf MONDO:0018961 {source="Orphanet:618/btnt"} property_value: excluded_subClassOf MONDO:0024462 {source="OMIM:155601"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0007966 name: susceptibility to uveal melanoma subset: predisposition is_a: MONDO:0020573 ! inherited disease susceptibility intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: predisposes_towards EFO:1000616 ! Uveal Melanoma relationship: predisposes_towards EFO:1000616 ! Uveal Melanoma property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2656 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5511 xsd:anyURI [Term] id: MONDO:0007970 name: melorheostosis def: "Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities." [Orphanet:2485] subset: gard_rare {source="GARD:0009474"} subset: ordo_malformation_syndrome {source="Orphanet:2485"} synonym: "Mel" RELATED [OMIM:155950] synonym: "melorheostosis, isolated" RELATED [OMIM:155950] synonym: "melorheostosis, isolated, somatic mosaic" EXACT [OMIM:155950, OMIM:genemap2] xref: DOID:4253 {source="MONDO:equivalentTo"} xref: ICD9:756.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10050284 {source="Orphanet:2485", source="Orphanet:2485/e"} xref: MESH:D008557 {source="Orphanet:2485", source="MONDO:equivalentTo", source="Orphanet:2485/e", source="DOID:4253"} xref: NCIT:C84887 {source="MONDO:equivalentTo", source="DOID:4253"} xref: OMIM:155950 {source="Orphanet:2485", source="MONDO:equivalentTo", source="Orphanet:2485/e", source="DOID:4253"} xref: Orphanet:2485 {source="MONDO:equivalentTo", source="OMIM:155950"} xref: SCTID:44697002 {source="MONDO:equivalentTo", source="DOID:4253"} xref: UMLS:C0025239 {source="NCIT:C84887", source="Orphanet:2485", source="MONDO:equivalentTo", source="Orphanet:2485/e", source="MONDO:ncbi_mim2gene_medline", source="DOID:4253"} is_a: MONDO:0017198 {source="Orphanet:2485"} ! osteopetrosis is_a: MONDO:0800084 {source="PMID:31633310"} ! primary bone dysplasia with increased bone density property_value: closeMatch http://identifiers.org/meddra/10050284 property_value: exactMatch DOID:4253 property_value: exactMatch http://identifiers.org/mesh/D008557 property_value: exactMatch http://identifiers.org/snomedct/44697002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025239 property_value: exactMatch https://omim.org/entry/155950 property_value: exactMatch NCIT:C84887 property_value: exactMatch Orphanet:2485 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9474/melorheostosis xsd:anyURI {source="GARD:0009474"} [Term] id: MONDO:0007971 name: delayed membranous cranial ossification def: "Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development." [Orphanet:3034] subset: gard_rare {source="GARD:0001727"} subset: ordo_malformation_syndrome {source="Orphanet:3034"} synonym: "Gonzales-del Angel syndrome" EXACT [Orphanet:3034] synonym: "membranous cranial ossification, delayed" RELATED [OMIM:155980] xref: MESH:C563592 {source="MONDO:equivalentTo"} xref: OMIM:155980 {source="Orphanet:3034", source="MONDO:equivalentTo", source="Orphanet:3034/e"} xref: Orphanet:3034 {source="MONDO:equivalentTo", source="OMIM:155980"} xref: SCTID:715524004 {source="MONDO:equivalentTo"} xref: UMLS:C1835030 {source="Orphanet:3034", source="MONDO:equivalentTo", source="OMIM:155980", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018230 {source="MONDO:0019709-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! skeletal dysplasia is_a: MONDO:0020018 {source="Orphanet:3034"} ! cranial malformation property_value: exactMatch http://identifiers.org/mesh/C563592 property_value: exactMatch http://identifiers.org/snomedct/715524004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835030 property_value: exactMatch https://omim.org/entry/155980 property_value: exactMatch Orphanet:3034 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1727/delayed-membranous-cranial-ossification xsd:anyURI {source="GARD:0001727"} [Term] id: MONDO:0007977 name: mesomelic dysplasia, Kantaputra type def: "Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature." [Orphanet:1836] subset: gard_rare {source="GARD:0003074"} subset: ordo_malformation_syndrome {source="Orphanet:1836"} synonym: "Kantaputra mesomelic dysplasia" EXACT [Orphanet:1836] synonym: "MDK" EXACT ABBREVIATION [Orphanet:1836] synonym: "Mdk" RELATED [OMIM:156232] synonym: "mesomelic dysplasia Kantaputra type" RELATED [GARD:0003074] synonym: "mesomelic dysplasia Thai type" RELATED [GARD:0003074] synonym: "mesomelic dysplasia with ankle carpal and tarsal synostosis" RELATED [GARD:0003074] synonym: "mesomelic dysplasia with ankle, carpal, and tarsal synostosis" RELATED [OMIM:156232] synonym: "mesomelic dysplasia, Kantaputra type" EXACT [MONDO:Lexical, OMIM:156232] synonym: "mesomelic dysplasia, Thai type" EXACT [OMIM:156232, Orphanet:1836] synonym: "MMDK" RELATED ABBREVIATION [MONDO:Lexical, OMIM:156232] xref: MESH:C535547 {source="Orphanet:1836/e", source="MONDO:equivalentTo", source="Orphanet:1836"} xref: OMIM:156232 {source="Orphanet:1836/e", source="MONDO:equivalentTo", source="Orphanet:1836"} xref: Orphanet:1836 {source="MONDO:equivalentTo", source="OMIM:156232"} xref: SCTID:719397009 {source="MONDO:equivalentTo"} is_a: MONDO:0019697 {source="Orphanet:1836", source="PMID:31633310"} ! mesomelic and rhizo-mesomelic dysplasia property_value: exactMatch http://identifiers.org/mesh/C535547 property_value: exactMatch http://identifiers.org/snomedct/719397009 property_value: exactMatch https://omim.org/entry/156232 property_value: exactMatch Orphanet:1836 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3074/mesomelic-dysplasia-kantaputra-type xsd:anyURI {source="GARD:0003074"} [Term] id: MONDO:0007979 name: metachondromatosis def: "Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions." [Orphanet:2499] subset: gard_rare {source="GARD:0003560"} subset: ordo_malformation_syndrome {source="Orphanet:2499"} synonym: "METACHONDROMATOSIS" RELATED ABBREVIATION [OMIM:156250] synonym: "metachondromatosis" EXACT [MONDO:Lexical, OMIM:156250] synonym: "METCDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:156250] xref: DOID:0111512 {source="MONDO:equivalentTo"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562938 {source="MONDO:equivalentTo"} xref: OMIM:156250 {source="Orphanet:2499", source="MONDO:equivalentTo", source="Orphanet:2499/e"} xref: Orphanet:2499 {source="OMIM:156250", source="MONDO:equivalentTo"} xref: SCTID:205481009 {source="MONDO:equivalentTo"} xref: UMLS:C0410530 {source="OMIM:156250", source="Orphanet:2499", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2499/e"} is_a: MONDO:0800089 {source="PMID:31633310"} ! primary bone dysplasia with disorganized development of skeletal components property_value: exactMatch DOID:0111512 property_value: exactMatch http://identifiers.org/mesh/C562938 property_value: exactMatch http://identifiers.org/snomedct/205481009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0410530 property_value: exactMatch https://omim.org/entry/156250 property_value: exactMatch Orphanet:2499 property_value: excluded_subClassOf MONDO:0019708 {source="Orphanet:2499"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3560/metachondromatosis xsd:anyURI {source="GARD:0003560"} [Term] id: MONDO:0007982 name: metaphyseal chondrodysplasia, Jansen type def: "Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia." [Orphanet:33067] subset: gard_rare subset: ordo_disease {source="Orphanet:33067"} synonym: "Jansen disease" EXACT [DOID:0080020] synonym: "Jansen metaphyseal chondrodysplasia" EXACT [DOID:0080020] synonym: "Jansen metaphyseal dysostosis" EXACT [DOID:0080020] synonym: "Jansen type metaphyseal chondrodysplasia" RELATED [GARD:0000079] synonym: "Jansen's metaphyseal chondrodysplasia" RELATED [DOID:0080020] synonym: "metaphyseal chondrodysplasia murk Jansen type" RELATED [GARD:0000079] synonym: "metaphyseal chondrodysplasia, Jansen type" EXACT [OMIM:156400] synonym: "metaphyseal chondrodysplasia, murk Jansen type" RELATED [OMIM:156400] synonym: "murk Jansen type metaphyseal chondrodysplasia" EXACT [DOID:0080020, GARD:0000079] xref: DOID:0080020 {source="MONDO:equivalentTo"} xref: MESH:C537564 {source="Orphanet:33067/e", source="MONDO:equivalentTo", source="Orphanet:33067"} xref: NCIT:C131868 {source="MONDO:equivalentTo"} xref: OMIM:156400 {source="GARD:0000079", source="Orphanet:33067/e", source="MONDO:equivalentTo", source="Orphanet:33067"} xref: Orphanet:33067 {source="GARD:0000079", source="MONDO:equivalentTo", source="OMIM:156400"} xref: SCTID:24629003 {source="MONDO:equivalentTo"} xref: UMLS:C0265295 {source="GARD:0000079", source="NCIT:C131868", source="Orphanet:33067/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:156400", source="Orphanet:33067"} is_a: MONDO:0019693 {source="Orphanet:33067", source="PMID:31633310"} ! multiple metaphyseal dysplasia property_value: exactMatch DOID:0080020 property_value: exactMatch http://identifiers.org/mesh/C537564 property_value: exactMatch http://identifiers.org/snomedct/24629003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265295 property_value: exactMatch https://omim.org/entry/156400 property_value: exactMatch NCIT:C131868 property_value: exactMatch Orphanet:33067 property_value: excluded_subClassOf MONDO:0009943 {source="DOID:0080020"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0007983 name: Schmid metaphyseal chondrodysplasia def: "Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait." [Orphanet:174] subset: ordo_disease {source="Orphanet:174"} synonym: "Japanese type spondylometaphyseal dysplasia" EXACT [DOID:0080021] synonym: "MCDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:156500] synonym: "metaphyseal chondrodysplasia Schmid type" RELATED [GARD:0007029] synonym: "metaphyseal chondrodysplasia, Schmid type" RELATED [MONDO:Lexical, OMIM:156500] synonym: "Schmid type metaphyseal dysplasia" EXACT [DOID:0080021] synonym: "spondylometaphyseal dysplasia, Japanese type" RELATED [OMIM:156500] xref: DOID:0080021 {source="MONDO:equivalentTo"} xref: MESH:C537352 {source="Orphanet:174/e", source="MONDO:equivalentTo", source="Orphanet:174"} xref: OMIM:156500 {source="Orphanet:174/e", source="DOID:0080021", source="MONDO:equivalentTo", source="Orphanet:174"} xref: Orphanet:174 {source="MONDO:equivalentTo", source="OMIM:156500"} xref: SCTID:29248006 {source="MONDO:equivalentTo"} is_a: MONDO:0019693 {source="Orphanet:174", source="PMID:31633310"} ! multiple metaphyseal dysplasia property_value: exactMatch DOID:0080021 property_value: exactMatch http://identifiers.org/mesh/C537352 property_value: exactMatch http://identifiers.org/snomedct/29248006 property_value: exactMatch https://omim.org/entry/156500 property_value: exactMatch Orphanet:174 property_value: excluded_subClassOf MONDO:0000138 {source="DC-OMIM:156500"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0007984 name: metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome def: "Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait." [Orphanet:2504] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2504"} synonym: "MDMHB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:156510] synonym: "metaphyseal dysplasia maxillary hypoplasia brachydactyly" RELATED [GARD:0003568] synonym: "metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly" RELATED [MONDO:Lexical, OMIM:156510] xref: DOID:0111513 {source="MONDO:equivalentTo"} xref: OMIM:156510 {source="GARD:0003568", source="MONDO:equivalentTo", source="Orphanet:2504", source="Orphanet:2504/e"} xref: Orphanet:2504 {source="GARD:0003568", source="MONDO:equivalentTo", source="OMIM:156510"} xref: UMLS:CN201864 {source="MONDO:equivalentTo"} is_a: MONDO:0019693 {source="Orphanet:2504", source="PMID:31633310"} ! multiple metaphyseal dysplasia property_value: exactMatch DOID:0111513 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201864 property_value: exactMatch https://omim.org/entry/156510 property_value: exactMatch Orphanet:2504 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3568/metaphyseal-dysplasia-maxillary-hypoplasia-brachydactyly xsd:anyURI {source="GARD:0003568"} [Term] id: MONDO:0007986 name: metatropic dysplasia def: "Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood." [Orphanet:2635] subset: gard_rare {source="GARD:0003571"} subset: ordo_disease {source="Orphanet:2635"} synonym: "Metatropic dwarfism" EXACT [OMIM:156530, Orphanet:2635] synonym: "metatropic dysplasia" EXACT [OMIM:156530] synonym: "Metatropic dysplasia, nonlethal dominant" RELATED [GARD:0003571] xref: DOID:0111514 {source="MONDO:equivalentTo"} xref: MESH:C537356 {source="MONDO:equivalentTo", source="Orphanet:2635", source="Orphanet:2635/e"} xref: NCIT:C175209 {source="MONDO:equivalentTo"} xref: OMIM:156530 {source="MONDO:equivalentTo", source="Orphanet:2635", source="Orphanet:2635/e"} xref: Orphanet:2635 {source="MONDO:equivalentTo", source="OMIM:156530"} xref: SCTID:22764001 {source="MONDO:equivalentTo"} is_a: MONDO:0016761 {source="Orphanet:2635"} ! spondyloepiphyseal dysplasia is_a: MONDO:0018240 {source="Orphanet:2635", source="PMID:31633310"} ! TRPV4-related bone disorder property_value: exactMatch DOID:0111514 property_value: exactMatch http://identifiers.org/mesh/C537356 property_value: exactMatch http://identifiers.org/snomedct/22764001 property_value: exactMatch https://omim.org/entry/156530 property_value: exactMatch NCIT:C175209 property_value: exactMatch Orphanet:2635 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3571/metatropic-dysplasia xsd:anyURI {source="GARD:0003571"} [Term] id: MONDO:0007987 name: Kniest dysplasia def: "Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root)." [Orphanet:485] subset: gard_rare {source="GARD:0006841"} subset: ordo_disease {source="Orphanet:485"} synonym: "Kniest dysplasia" EXACT [OMIM:156550] xref: DOID:0080045 {source="MONDO:equivalentTo"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537207 {source="Orphanet:485/e", source="MONDO:equivalentTo", source="Orphanet:485"} xref: NCIT:C125594 {source="MONDO:equivalentTo"} xref: OMIM:156550 {source="Orphanet:485/e", source="MONDO:equivalentTo", source="Orphanet:485"} xref: Orphanet:485 {source="OMIM:156550", source="MONDO:equivalentTo"} xref: SCTID:53974002 {source="MONDO:equivalentTo"} xref: UMLS:C0265279 {source="Orphanet:485/e", source="OMIM:156550", source="NCIT:C125594", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:485"} is_a: MONDO:0016761 {source="Orphanet:485"} ! spondyloepiphyseal dysplasia is_a: MONDO:0016763 {source="OMIM:156550"} ! spondylometaphyseal dysplasia is_a: MONDO:0018187 ! hereditary syndromic Pierre Robin syndrome is_a: MONDO:0018751 ! hereditary otorhinolaryngologic disease is_a: MONDO:0022800 {source="Orphanet:485", source="PMID:31633310"} ! type 2 collagenopathy relationship: disease_has_feature MONDO:0004603 ! collagenopathy property_value: exactMatch DOID:0080045 property_value: exactMatch http://identifiers.org/mesh/C537207 property_value: exactMatch http://identifiers.org/snomedct/53974002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265279 property_value: exactMatch https://omim.org/entry/156550 property_value: exactMatch NCIT:C125594 property_value: exactMatch Orphanet:485 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6841/kniest-dysplasia xsd:anyURI {source="GARD:0006841"} [Term] id: MONDO:0007988 name: autosomal dominant primary microcephaly def: "Autosomal dominant form of microcephaly (disease)." [MONDO:patterns/autosomal_dominant] subset: gard_rare {source="GARD:0003605"} subset: ordo_etiological_subtype {source="Orphanet:2514"} synonym: "autosomal dominant microcephaly" RELATED [DOID:14725, GARD:0003605] synonym: "autosomal dominant primary microcephaly" EXACT [GARD:0003605] synonym: "microcephaly (disease), autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] synonym: "microcephaly autosomal dominant" RELATED [GARD:0003605] synonym: "microcephaly with autosomal dominant inheritance" RELATED [GARD:0003605] synonym: "microcephaly, autosomal dominant" RELATED [OMIM:156580] xref: DOID:14725 {source="MONDO:equivalentTo"} xref: MESH:C537323 {source="DOID:14725", source="MONDO:equivalentTo", source="Orphanet:2514", source="Orphanet:2514/e"} xref: OMIM:156580 {source="DOID:14725", source="MONDO:equivalentTo", source="Orphanet:2514", source="Orphanet:2514/e"} xref: Orphanet:2514 {source="OMIM:156580", source="MONDO:equivalentTo"} xref: UMLS:C0220693 {source="DOID:14725", source="MONDO:relatedTo", source="OMIM:156580", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2514", source="https://orcid.org/0000-0001-5493-2602", source="Orphanet:2514/e"} xref: UMLS:C4755316 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5493-2602"} is_a: MONDO:0000426 {source="DOID:14725", source="MONDO:Entailed", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015160 {source="Orphanet:2514"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0016056 {source="Orphanet:2514"} ! isolated congenital microcephaly is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder is_a: MONDO:0957008 ! hereditary cerebral malformation property_value: exactMatch DOID:14725 property_value: exactMatch http://identifiers.org/mesh/C537323 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4755316 property_value: exactMatch https://omim.org/entry/156580 property_value: exactMatch Orphanet:2514 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3738 xsd:anyURI property_value: relatedMatch http://linkedlifedata.com/resource/umls/id/C0220693 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3605/microcephaly-autosomal-dominant xsd:anyURI {source="GARD:0003605"} [Term] id: MONDO:0007989 name: congenital microcoria def: "Congenital microcoria is a rare autosomal dominant ophthalmological disease caused by maldevelopment of the dilator muscle of the pupil that is characterized by small pupils (<2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma." [Orphanet:566] subset: gard_rare {source="GARD:0003635"} subset: ordo_malformation_syndrome {source="Orphanet:566"} synonym: "chromosome 13Q32 deletion syndrome" RELATED [OMIM:156600] synonym: "congenital miosis" EXACT [Orphanet:566] synonym: "Mcor" RELATED [OMIM:156600] synonym: "microcoria, congenital" RELATED [OMIM:156600] synonym: "miosis, congenital" RELATED [OMIM:156600] synonym: "pinhole pupils" RELATED [GARD:0003635] xref: MESH:C537550 {source="Orphanet:566", source="MONDO:equivalentTo", source="Orphanet:566/e"} xref: OMIM:156600 {source="Orphanet:566", source="MONDO:equivalentTo", source="Orphanet:566/e"} xref: Orphanet:566 {source="MONDO:equivalentTo", source="OMIM:156600"} xref: SCTID:400962005 {source="MONDO:equivalentTo"} is_a: MONDO:0011119 {source="Orphanet:566"} ! iridogoniodysgenesis relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch http://identifiers.org/mesh/C537550 property_value: exactMatch http://identifiers.org/snomedct/400962005 property_value: exactMatch https://omim.org/entry/156600 property_value: exactMatch Orphanet:566 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3635/microcoria-congenital xsd:anyURI {source="GARD:0003635"} [Term] id: MONDO:0007990 name: multiple benign circumferential skin creases on limbs subset: ordo_disease {source="Orphanet:2505"} synonym: "CCSF" EXACT ABBREVIATION [Orphanet:2505] synonym: "circumferential skin creases, Kunze type" EXACT [Orphanet:2505] synonym: "congenital circumferential skin folds" EXACT [Orphanet:2505] synonym: "CSCSC" EXACT ABBREVIATION [MONDO:cjm] synonym: "Kunze Riehm syndrome" RELATED [GARD:0003589] synonym: "Kunze-Riehm syndrome" EXACT [Orphanet:2505] synonym: "Michelin tire baby syndrome" RELATED [OMIM:156610] synonym: "Michelin tyre baby syndrome" RELATED OMO:0003005 [] synonym: "skin creases, multiple benign ring-shaped, of limbs" RELATED [OMIM:156610] xref: DOID:0112241 {source="MONDO:equivalentTo"} xref: MESH:C537575 {source="Orphanet:2505/e", source="MONDO:equivalentTo", source="Orphanet:2505"} xref: Orphanet:2505 {source="MONDO:equivalentTo", source="OMIM:156610"} xref: UMLS:C0473586 {source="Orphanet:2505/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:156610", source="Orphanet:2505"} is_a: EFO:0000701 {source="Orphanet:2505", source="https://orcid.org/0000-0001-5208-3432"} ! skin disease property_value: exactMatch DOID:0112241 property_value: exactMatch http://identifiers.org/mesh/C537575 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0473586 property_value: exactMatch Orphanet:2505 [Term] id: MONDO:0007991 name: microcephaly-deafness-intellectual disability syndrome def: "Microcephaly-deafness-intellectual disability syndrome is characterized by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant." [Orphanet:2533] subset: ordo_malformation_syndrome {source="Orphanet:2533"} synonym: "Kawashima Tsuji syndrome" RELATED [GARD:0000230] synonym: "Kawashima-Tsuji syndrome" EXACT [Orphanet:2533] synonym: "microcephaly deafness syndrome" RELATED [GARD:0000230] synonym: "microcephaly-deafness syndrome" RELATED [OMIM:156620] synonym: "syndrome of microcephaly, deafness/malformed ears, intellectual disability and peculiar facies" RELATED [GARD:0000230] synonym: "syndrome of microcephaly, deafness/malformed ears, mental retardation and peculiar facies" RELATED DEPRECATED [GARD:0000230] xref: MESH:C537326 {source="MONDO:equivalentTo"} xref: OMIM:156620 {source="Orphanet:2533", source="MONDO:equivalentTo", source="Orphanet:2533/e"} xref: Orphanet:2533 {source="MONDO:equivalentTo", source="OMIM:156620"} xref: SCTID:716112005 {source="MONDO:equivalentTo"} xref: UMLS:C0796062 {source="Orphanet:2533", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:156620"} is_a: MONDO:0015159 {source="Orphanet:2533"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C537326 property_value: exactMatch http://identifiers.org/snomedct/716112005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796062 property_value: exactMatch https://omim.org/entry/156620 property_value: exactMatch Orphanet:2533 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2533"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0007992 name: microcornea-glaucoma-absent frontal sinuses syndrome def: "Microcornea-glaucoma-absent frontal sinuses syndrome is characterized by microcornea, glaucoma and absent frontal sinuses. Less 10 cases have been described so far. The mode of transmission appears to be autosomal dominant." [Orphanet:2536] subset: ordo_malformation_syndrome {source="Orphanet:2536"} synonym: "hereditary microcornea, glaucoma, and absent frontal sinuses" RELATED [GARD:0003637] synonym: "microcornea, glaucoma, and absent frontal sinuses" RELATED [OMIM:156700] xref: MESH:C537552 {source="MONDO:equivalentTo", source="Orphanet:2536", source="Orphanet:2536/e"} xref: OMIM:156700 {source="MONDO:equivalentTo", source="Orphanet:2536", source="Orphanet:2536/e"} xref: Orphanet:2536 {source="MONDO:equivalentTo", source="OMIM:156700"} xref: UMLS:C1834935 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2536", source="OMIM:156700", source="Orphanet:2536/e"} is_a: EFO:0003966 {source="https://orcid.org/0000-0001-5208-3432"} ! eye disease property_value: exactMatch http://identifiers.org/mesh/C537552 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834935 property_value: exactMatch https://omim.org/entry/156700 property_value: exactMatch Orphanet:2536 [Term] id: MONDO:0007998 name: microspherophakia-metaphyseal dysplasia syndrome def: "Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects." [Orphanet:2551] subset: ordo_malformation_syndrome {source="Orphanet:2551"} synonym: "dominantly inherited bone dysplasia with severe eye involvement" RELATED [GARD:0005481] synonym: "microspherophakia-metaphyseal dysplasia" RELATED [OMIM:157151] synonym: "Verloes Van Maldergem Marneffe syndrome" RELATED [GARD:0005481] synonym: "Verloes-Van Maldergem-de Marneffe syndrome" EXACT [Orphanet:2551] xref: MESH:C536540 {source="MONDO:equivalentTo"} xref: OMIM:157151 {source="Orphanet:2551", source="MONDO:equivalentTo", source="Orphanet:2551/e"} xref: Orphanet:2551 {source="OMIM:157151", source="MONDO:equivalentTo"} xref: UMLS:C1834880 {source="OMIM:157151", source="Orphanet:2551", source="MONDO:equivalentTo", source="Orphanet:2551/e", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0000508 {source="GARD:0005481", source="OMIM:157151"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C536540 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834880 property_value: exactMatch https://omim.org/entry/157151 property_value: exactMatch Orphanet:2551 property_value: excluded_subClassOf MONDO:0020235 {source="Orphanet:2551"} [Term] id: MONDO:0008002 name: mirror movements 1 def: "Any familial congenital mirror movements in which the cause of the disease is a mutation in the DCC gene." [MONDO:patterns/disease_series_by_gene] synonym: "bimanual synergia" RELATED [OMIM:157600] synonym: "DCC familial congenital mirror movements" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial congenital mirror movements caused by mutation in DCC" EXACT [MONDO:design_pattern] synonym: "mirror movements 1" EXACT [MONDO:Lexical, OMIM:157600] synonym: "mirror movements 1 and/Or agenesis of the corpus callosum" RELATED [OMIM:157600] synonym: "mirror movements type 1" EXACT [MONDORULE:1, OMIM:157600] synonym: "mirror movements, congenital" RELATED [OMIM:157600] synonym: "MRMV1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:157600] xref: OMIM:157600 {source="MONDO:equivalentTo"} is_a: MONDO:0100515 {source="https://www.clinicalgenome.org/affiliation/40020/"} ! mirror movements 1 and/or agenesis of the corpus callosum property_value: exactMatch https://omim.org/entry/157600 property_value: excluded_subClassOf MONDO:0016558 {source="DC-OMIM:157600", source="MONDO:Redundant", source="OMIM:157600", source="Orphanet:238722/btnt"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5219 xsd:anyURI [Term] id: MONDO:0008003 name: autosomal dominant progressive external ophthalmoplegia def: "Autosomal dominant form of progressive external ophthalmoplegia." [MONDO:patterns/autosomal_dominant] subset: ordo_disease {source="Orphanet:254892"} synonym: "adPEO" EXACT [Orphanet:254892] synonym: "PEOA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:157640] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1" RELATED [MONDO:Lexical, OMIM:157640] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 1" EXACT [MONDORULE:1, OMIM:157640] synonym: "progressive external ophthalmoplegia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: MESH:C563575 {source="MONDO:equivalentTo"} xref: Orphanet:254892 {source="MONDO:equivalentTo", source="OMIM:157640"} xref: UMLS:CN202062 {source="MONDO:equivalentTo"} is_a: MONDO:0000090 {source="DC-OMIM:157640", source="OMIM:157640"} ! progressive external ophthalmoplegia with mitochondrial DNA deletions is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0016797 {source="Orphanet:254892"} ! multiple mitochondrial DNA deletion syndrome property_value: exactMatch http://identifiers.org/mesh/C563575 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202062 property_value: exactMatch Orphanet:254892 [Term] id: MONDO:0008005 name: cardiospondylocarpofacial syndrome def: "Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance." [Orphanet:3238] subset: ordo_malformation_syndrome {source="Orphanet:3238"} synonym: "cardiospondylocarpofacial syndrome" EXACT [OMIM:157800] synonym: "congenital heart disease, deafness, and skeletal malformations" RELATED [GARD:0002362] synonym: "CSCF" RELATED ABBREVIATION [OMIM:157800] synonym: "Forney Robinson Pascoe syndrome" RELATED [GARD:0002362] synonym: "Forney syndrome" EXACT [Orphanet:3238] synonym: "Forney-Robinson-Pascoe syndrome" EXACT [Orphanet:3238] synonym: "mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones" RELATED [OMIM:157800] synonym: "mitral regurgitation-deafness-skeletal anomalies syndrome" EXACT [Orphanet:3238] xref: MESH:C563572 {source="MONDO:equivalentTo"} xref: NCIT:C188216 {source="MONDO:equivalentTo"} xref: OMIM:157800 {source="MONDO:equivalentTo", source="Orphanet:3238", source="Orphanet:3238/e"} xref: Orphanet:3238 {source="MONDO:equivalentTo", source="OMIM:157800"} xref: SCTID:720612000 {source="MONDO:equivalentTo"} xref: UMLS:CN204053 {source="MONDO:equivalentTo"} is_a: MONDO:0019690 {source="PMID:31633310"} ! filamin-related bone disorder property_value: exactMatch http://identifiers.org/mesh/C563572 property_value: exactMatch http://identifiers.org/snomedct/720612000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204053 property_value: exactMatch https://omim.org/entry/157800 property_value: exactMatch NCIT:C188216 property_value: exactMatch Orphanet:3238 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0008006 name: Mobius syndrome def: "Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies." [Orphanet:570] subset: ordo_disease {source="Orphanet:570"} synonym: "absence or underdevelopment of the 6th and 7th cranial nerves" RELATED [GARD:0008549] synonym: "congenital facial diplegia" EXACT [Orphanet:570] synonym: "congenital facial diplegia syndrome" RELATED [GARD:0008549] synonym: "congenital oculofacial paralysis" RELATED [GARD:0008549] synonym: "MBS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:157900] synonym: "Mobius syndrome" EXACT [OMIM:157900] synonym: "Moebius congenital oculofacial paralysis" EXACT [DOID:13501] synonym: "Moebius sequence" RELATED [OMIM:157900] synonym: "Moebius syndrome" RELATED [MONDO:Lexical, OMIM:157900] synonym: "Moebius syndrome, Isolated cases" EXACT [OMIM:157900, OMIM:genemap2] synonym: "Möbius syndrome" EXACT [NCIT:C84893, Orphanet:570] synonym: "oromandibular-limb hypogenesis spectrum" EXACT [DOID:13501] xref: DOID:13501 {source="EFO:1001046", source="MONDO:equivalentTo"} xref: EFO:1001046 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10027789 {source="EFO:1001046"} xref: MedDRA:10030069 {source="Orphanet:570/e", source="Orphanet:570"} xref: MESH:D020331 {source="Orphanet:570/e", source="EFO:1001046", source="MONDO:equivalentTo", source="Orphanet:570", source="DOID:13501"} xref: NCIT:C84893 {source="EFO:1001046", source="MONDO:equivalentTo", source="DOID:13501"} xref: OMIM:157900 {source="Orphanet:570/e", source="EFO:1001046", source="MONDO:equivalentTo", source="Orphanet:570", source="DOID:13501"} xref: Orphanet:570 {source="MONDO:equivalentTo", source="OMIM:157900"} xref: SCTID:89444000 {source="MONDO:equivalentTo", source="DOID:13501"} xref: UMLS:C0221060 {source="Orphanet:570/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:570", source="OMIM:157900", source="NCIT:C84893", source="DOID:13501"} xref: UMLS:C0853240 {source="MONDO:equivalentTo", source="Orphanet:570"} is_a: EFO:1002051 {source="DOID:13501", source="MESH:D020331"} ! facial nerve disease is_a: MONDO:0002254 {source="NCIT:C84893"} ! syndromic disease is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015083 {source="Orphanet:570"} ! nuclear oculomotor paralysis is_a: MONDO:0015160 {source="Orphanet:570"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0015334 {source="Orphanet:570"} ! branchial arch or oral-acral syndrome is_a: MONDO:0015499 {source="Orphanet:570"} ! paralytic facial malformation is_a: MONDO:0020132 {source="Orphanet:570"} ! cranial nerve and nuclear aplasia property_value: closeMatch http://identifiers.org/meddra/10027789 property_value: closeMatch http://identifiers.org/meddra/10030069 property_value: exactMatch DOID:13501 property_value: exactMatch http://identifiers.org/mesh/D020331 property_value: exactMatch http://identifiers.org/snomedct/89444000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221060 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0853240 property_value: exactMatch https://omim.org/entry/157900 property_value: exactMatch NCIT:C84893 property_value: exactMatch Orphanet:570 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008007 name: tooth ankylosis def: "Dental ankylosis is a rare disorder characterized by the fusion of the tooth to the bone, preventing both eruption and orthodontic movement." [Orphanet:1077] subset: ordo_malformation_syndrome {source="Orphanet:1077"} synonym: "abnormal fusion of dental cementum with alveolar bone" RELATED [GARD:0000701] synonym: "ankylosis (disease) of calcareous tooth" EXACT [] synonym: "ankylosis of teeth" EXACT [DOID:12661, ICD9CM:521.6, OMIM:157950, Orphanet:1077] synonym: "ankylosis of tooth" EXACT [DOID:12661] synonym: "calcareous tooth ankylosis (disease)" EXACT [MONDO:patterns/location] synonym: "dental ankylosis" RELATED [OMIM:157950] synonym: "molar 1 reinclusion" RELATED [OMIM:157950] synonym: "molar I reinclusion" RELATED [GARD:0000701] synonym: "permanent molars, secondary retention OF" RELATED [OMIM:157950] synonym: "secondary retention of permanent molars" RELATED [GARD:0000701] xref: DOID:12661 {source="MONDO:equivalentTo", source="EFO:1001215"} xref: EFO:1001215 {source="MONDO:equivalentTo"} xref: ICD9:521.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12661"} xref: MedDRA:10044019 {source="Orphanet:1077", source="Orphanet:1077/e", source="EFO:1001215"} xref: MESH:D020254 {source="Orphanet:1077", source="MONDO:equivalentTo", source="Orphanet:1077/e", source="EFO:1001215", source="DOID:12661"} xref: OMIM:157950 {source="MONDO:equivalentTo", source="DOID:12661"} xref: Orphanet:1077 {source="MONDO:equivalentTo"} xref: SCTID:14901003 {source="MONDO:equivalentTo", source="EFO:1001215", source="DOID:12661"} xref: UMLS:C0155930 {source="Orphanet:1077", source="MONDO:equivalentTo", source="Orphanet:1077/e", source="MONDO:ncbi_mim2gene_medline", source="OMIM:157950", source="DOID:12661"} is_a: EFO:0000508 {source="Orphanet:1077/inferred"} ! genetic disorder is_a: MONDO:0002220 {source="DOID:12661"} ! tooth hard tissue disease is_a: MONDO:0002257 {source="DOID:12661", source="MONDO:Entailed", source="MONDO:Redundant"} ! ankylosis property_value: closeMatch http://identifiers.org/meddra/10044019 property_value: exactMatch DOID:12661 property_value: exactMatch http://identifiers.org/mesh/D020254 property_value: exactMatch http://identifiers.org/snomedct/14901003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155930 property_value: exactMatch https://omim.org/entry/157950 property_value: exactMatch Orphanet:1077 [Term] id: MONDO:0008008 name: MOMO syndrome def: "MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype." [Orphanet:2563] subset: gard_rare {source="GARD:0000178"} subset: ordo_malformation_syndrome {source="Orphanet:2563"} synonym: "macrocephaly-obesity-mental disability-ocular abnormalities syndrome" EXACT [Orphanet:2563] synonym: "macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus)" RELATED [GARD:0000178] synonym: "macrosomia, obesity, macrocephaly, and ocular abnormalities" RELATED [OMIM:157980] synonym: "macrosomia, obesity, macrocephaly, ocular abnormalities" RELATED [GARD:0000178] synonym: "macrosomia-obesity-macrocephaly-ocular abnormalities syndrome" EXACT [Orphanet:2563] synonym: "momo syndrome" EXACT [OMIM:157980] xref: MESH:C535812 {source="MONDO:equivalentTo"} xref: OMIM:157980 {source="Orphanet:2563", source="MONDO:equivalentTo", source="Orphanet:2563/e"} xref: Orphanet:2563 {source="OMIM:157980", source="MONDO:equivalentTo"} xref: SCTID:724137002 {source="MONDO:equivalentTo"} xref: UMLS:C1834759 {source="Orphanet:2563", source="OMIM:157980", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2563/e"} is_a: MONDO:0016565 {source="Orphanet:2563"} ! syndromic genetic obesity property_value: exactMatch http://identifiers.org/mesh/C535812 property_value: exactMatch http://identifiers.org/snomedct/724137002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834759 property_value: exactMatch https://omim.org/entry/157980 property_value: exactMatch Orphanet:2563 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/178/momo-syndrome xsd:anyURI {source="GARD:0000178"} [Term] id: MONDO:0008009 name: monilethrix def: "Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis." [Orphanet:573] subset: gard_rare {source="GARD:0000093"} subset: ordo_disease {source="Orphanet:573"} synonym: "MNLIX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:158000] synonym: "monilethrix" EXACT [MONDO:Lexical, OMIM:158000] synonym: "moniliform hair syndrome" EXACT [Orphanet:573] synonym: "nodose hair" RELATED [GARD:0000093] xref: DOID:0050472 {source="MONDO:equivalentTo"} xref: MESH:D056734 {source="Orphanet:573/e", source="MONDO:equivalentTo", source="Orphanet:573", source="DOID:0050472"} xref: NCIT:C84894 {source="MONDO:equivalentTo", source="DOID:0050472"} xref: OMIM:158000 {source="Orphanet:573/e", source="MONDO:equivalentTo", source="Orphanet:573", source="DOID:0050472"} xref: OMIM:252200 {source="MONDO:equivalentObsolete", source="GARD:0000093"} xref: Orphanet:573 {source="OMIM:158000", source="MONDO:equivalentTo"} xref: SCTID:69488000 {source="MONDO:equivalentTo", source="DOID:0050472"} xref: UMLS:C0546966 {source="OMIM:158000", source="Orphanet:573/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C84894", source="Orphanet:573", source="DOID:0050472"} is_a: MONDO:0000426 {source="DOID:0050472", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0019281 {source="Orphanet:573"} ! isolated genetic hair shaft abnormality is_a: MONDO:0021026 ! hereditary epidermal appendage anomaly property_value: exactMatch DOID:0050472 property_value: exactMatch http://identifiers.org/mesh/D056734 property_value: exactMatch http://identifiers.org/snomedct/69488000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0546966 property_value: exactMatch https://omim.org/entry/158000 property_value: exactMatch NCIT:C84894 property_value: exactMatch Orphanet:573 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/93/monilethrix xsd:anyURI {source="GARD:0000093"} [Term] id: MONDO:0008013 name: chromosome 9p deletion syndrome def: "Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis." [Orphanet:261112] subset: disease_grouping subset: ordo_malformation_syndrome {source="Orphanet:261112"} synonym: "9p deletion" EXACT [GARD:0003773] synonym: "9p deletion syndrome" EXACT [Orphanet:261112] synonym: "9p monosomy" EXACT [GARD:0003773] synonym: "9p syndrome" EXACT [DOID:0060732] synonym: "9p- syndrome" EXACT [Orphanet:261112] synonym: "Alfi syndrome" EXACT [DOID:0060732, Orphanet:261112] synonym: "chromosome 9p deletion" EXACT [GARD:0003773] synonym: "deletion 9p" EXACT [GARD:0003773] synonym: "monosomy 9p" EXACT [Orphanet:261112] synonym: "monosomy 9p syndrome" EXACT [DOID:0060732, OMIM:158170] synonym: "monosomy type 9p" EXACT [MONDORULE:4, Orphanet:261112] synonym: "partial deletion of chromosome 9p" EXACT [Orphanet:261929] synonym: "partial deletion of the short arm of chromosome 9" EXACT [MONDO:0016891] synonym: "partial deletion of the short arm of chromosome type 9" EXACT [MONDORULE:1, Orphanet:261929] synonym: "partial monosomy 9p" EXACT [GARD:0003773] synonym: "partial monosomy of chromosome 9p" EXACT [Orphanet:261929] synonym: "partial monosomy of the short arm of chromosome 9" EXACT [Orphanet:261929] xref: DOID:0060732 {source="MONDO:equivalentTo"} xref: ICD9:758.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538024 {source="MONDO:equivalentTo"} xref: OMIM:158170 {source="DOID:0060732", source="MONDO:equivalentTo", source="Orphanet:261112", source="Orphanet:261112/e"} xref: Orphanet:261112 {source="DOID:0060732", source="MONDO:equivalentTo", source="OMIM:158170"} xref: SCTID:62599000 {source="MONDO:equivalentTo"} is_a: MONDO:0016874 {source="Orphanet:261929"} ! partial deletion of chromosome 9 property_value: exactMatch DOID:0060732 property_value: exactMatch http://identifiers.org/mesh/C538024 property_value: exactMatch http://identifiers.org/snomedct/62599000 property_value: exactMatch https://omim.org/entry/158170 property_value: exactMatch Orphanet:261112 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0008016 name: trismus-pseudocamptodactyly syndrome subset: ordo_malformation_syndrome {source="Orphanet:3377"} synonym: "arthrogryposis distal type 7" RELATED [GARD:0002621] synonym: "arthrogryposis, distal, type 7" RELATED [MONDO:Lexical, OMIM:158300] synonym: "DA7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:158300] synonym: "distal arthrogryposis type 7" EXACT [Orphanet:3377] synonym: "Dutch-Kentucky syndrome" EXACT [Orphanet:3377] synonym: "Hecht syndrome" EXACT [OMIM:158300, Orphanet:3377] synonym: "Hecht-Beals syndrome" EXACT [Orphanet:3377] synonym: "mouth, inability to open completely, and short finger-flexor tendons" RELATED [OMIM:158300] synonym: "trismus-pseudocamptodactyly syndrome" EXACT [OMIM:158300] xref: DOID:0111603 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535857 {source="MONDO:equivalentTo"} xref: OMIM:158300 {source="Orphanet:3377", source="MONDO:equivalentTo", source="Orphanet:3377/e"} xref: Orphanet:3377 {source="MONDO:equivalentTo", source="OMIM:158300"} xref: SCTID:8757006 {source="MONDO:equivalentTo"} xref: UMLS:C0265226 {source="Orphanet:3377", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:158300"} is_a: MONDO:0019942 {source="DC-OMIM:158300", source="Orphanet:3377"} ! distal arthrogryposis property_value: exactMatch DOID:0111603 property_value: exactMatch http://identifiers.org/mesh/C535857 property_value: exactMatch http://identifiers.org/snomedct/8757006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265226 property_value: exactMatch https://omim.org/entry/158300 property_value: exactMatch Orphanet:3377 [Term] id: MONDO:0008017 name: hereditary mucoepithelial dysplasia def: "A condition that affects the skin, hair, mucosa (areas ofthe body that are lined with mucus), gums (gingiva), eyes, nose and lungs. Symptoms typically begin in infancy and may include development of cataracts (clouding of the eye lens); blindness; hair loss (alopecia); abnormal changes to the perineum (the area between the anus and external genitalia); and small, skin-colored bumps (keratosis pilaris). Terminal lung disease has also been reported. The cause of HMD is thought to be an abnormality in desmosomes and gap junctions, which are structures involved in cell-to-cell contact. HMD typically follows autosomal dominant inheritance, but has occurred sporadically (in an individual who has no family history of the condition). Treatment typically focuses on individual symptoms of the condition." [https://orcid.org/0000-0001-5208-3432, https://rarediseases.info.nih.gov/diseases/5427/hereditary-mucoepithelial-dysplasia] subset: gard_rare {source="GARD:0005427"} subset: ordo_malformation_syndrome {source="Orphanet:1839"} synonym: "HMD" EXACT ABBREVIATION [OMIM:158310] synonym: "mucoepithelial dysplasia, hereditary" EXACT [OMIM:158310] synonym: "Urban-Schosser-Spohn syndrome" EXACT [Orphanet:1839] xref: ICD9:478.79 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536476 {source="MONDO:equivalentTo"} xref: OMIM:158310 {source="Orphanet:1839/e", source="MONDO:equivalentTo", source="Orphanet:1839"} xref: Orphanet:1839 {source="OMIM:158310", source="MONDO:equivalentTo"} xref: SCTID:403442005 {source="MONDO:equivalentTo"} is_a: EFO:0000701 {source="GARD:0005427", source="https://orcid.org/0000-0001-5208-3432"} ! skin disease property_value: exactMatch http://identifiers.org/mesh/C536476 property_value: exactMatch http://identifiers.org/snomedct/403442005 property_value: exactMatch https://omim.org/entry/158310 property_value: exactMatch Orphanet:1839 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5427/hereditary-mucoepithelial-dysplasia xsd:anyURI {source="GARD:0005427"} [Term] id: MONDO:0008018 name: Muir-Torre syndrome def: "Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." [Orphanet:587] subset: ordo_clinical_subtype {source="Orphanet:587"} synonym: "cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas" RELATED [GARD:0006821] synonym: "cutaneous sebaceous neoplasms and keratoacanthomas, multiple, with gastrointestinal and Other carcinomas" RELATED [OMIM:158320] synonym: "MRTES" RELATED ABBREVIATION [MONDO:Lexical, OMIM:158320] synonym: "MUIR-Torre syndrome" RELATED [OMIM:158320] synonym: "Muir-Torre syndrome" EXACT [MONDO:Lexical, OMIM:158320] synonym: "multiple keratoacanthoma, Muir-Torre type" EXACT [Orphanet:587] xref: DOID:0050465 {source="MONDO:equivalentTo"} xref: MedDRA:10063042 {source="Orphanet:587", source="Orphanet:587/e"} xref: MESH:D055653 {source="Orphanet:587", source="DOID:0050465", source="MONDO:equivalentTo", source="Orphanet:587/e"} xref: NCIT:C84905 {source="DOID:0050465", source="MONDO:equivalentTo"} xref: OMIM:158320 {source="Orphanet:587", source="DOID:0050465", source="MONDO:equivalentTo", source="Orphanet:587/e"} xref: Orphanet:587 {source="OMIM:158320", source="MONDO:equivalentTo"} xref: SCTID:403824007 {source="DOID:0050465", source="MONDO:equivalentTo"} xref: UMLS:C1321489 {source="Orphanet:587", source="DOID:0050465", source="OMIM:158320", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:587/e", source="NCIT:C84905"} is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0018630 {source="https://github.com/monarch-initiative/mondo/issues/1627"} ! hereditary nonpolyposis colon cancer property_value: closeMatch http://identifiers.org/meddra/10063042 property_value: exactMatch DOID:0050465 property_value: exactMatch http://identifiers.org/mesh/D055653 property_value: exactMatch http://identifiers.org/snomedct/403824007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1321489 property_value: exactMatch https://omim.org/entry/158320 property_value: exactMatch NCIT:C84905 property_value: exactMatch Orphanet:587 property_value: excluded_subClassOf MONDO:0005835 {source="DOID:0050465", source="Orphanet:587"} property_value: excluded_subClassOf MONDO:0015950 {source="Orphanet:587"} property_value: excluded_subClassOf MONDO:0019300 {source="Orphanet:587"} property_value: excluded_subClassOf MONDO:0020173 {source="Orphanet:587"} property_value: excluded_subClassOf MONDO:0020176 {source="Orphanet:587"} [Term] id: MONDO:0008019 name: mullerian aplasia and hyperandrogenism def: "Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence of underdevelopment of the uterus, and sometimes absence of underdevelopment of the vagina." [NCIT:C120376] subset: ordo_malformation_syndrome {source="Orphanet:247768"} synonym: "mullerian aplasia and hyperandrogenism" EXACT [OMIM:158330] synonym: "Mullerian duct failure and hyperandrogenism" EXACT [OMIM:158330, Orphanet:247768] synonym: "Müllerian aplasia and hyperandrogenism" RELATED [Orphanet:247768] synonym: "Müllerian duct failure and hyperandrogenism" EXACT [Orphanet:247768] synonym: "WNT4 deficiency" EXACT [Orphanet:247768] xref: DOID:0111526 {source="MONDO:equivalentTo"} xref: MESH:C567186 {source="MONDO:equivalentTo"} xref: NCIT:C120376 {source="MONDO:equivalentTo"} xref: OMIM:158330 {source="MONDO:equivalentTo", source="Orphanet:247768", source="Orphanet:247768/e"} xref: Orphanet:247768 {source="OMIM:158330", source="MONDO:equivalentTo"} xref: Orphanet:3109 {source="OMIM:158330", source="MONDO:directSiblingOf"} xref: UMLS:C2675014 {source="OMIM:158330", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:247768", source="NCIT:C120376"} is_a: MONDO:0015830 {source="Orphanet:247768", source="Orphanet:247768/inferred"} ! partial bilateral aplasia of the mullerian ducts property_value: exactMatch DOID:0111526 property_value: exactMatch http://identifiers.org/mesh/C567186 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675014 property_value: exactMatch https://omim.org/entry/158330 property_value: exactMatch NCIT:C120376 property_value: exactMatch Orphanet:247768 [Term] id: MONDO:0008023 name: muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome def: "This disorder is characterized by muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus." [Orphanet:2579] subset: gard_rare subset: ordo_disease {source="Orphanet:2579"} synonym: "Furukawa-Takagi-Nakao syndrome" EXACT [Orphanet:2579] synonym: "muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus" RELATED [GARD:0002417] synonym: "muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus" RELATED [OMIM:158500] xref: ICD9:728.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:158500 {source="MONDO:equivalentTo", source="Orphanet:2579", source="GARD:0002417", source="Orphanet:2579/e"} xref: Orphanet:2579 {source="MONDO:equivalentTo", source="OMIM:158500"} xref: SCTID:237611007 {source="MONDO:equivalentTo"} is_a: EFO:0009671 {source="Orphanet:2579"} ! hereditary ataxia is_a: MONDO:0004884 ! eye degenerative disorder is_a: MONDO:0020240 {source="Orphanet:2579"} ! syndromic retinitis pigmentosa property_value: exactMatch http://identifiers.org/snomedct/237611007 property_value: exactMatch https://omim.org/entry/158500 property_value: exactMatch Orphanet:2579 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2417/muscular-atrophy-ataxia-retinitis-pigmentosa-and-diabetes-mellitus xsd:anyURI {source="GARD:0002417"} [Term] id: MONDO:0008026 name: autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures subset: ordo_clinical_subtype {source="Orphanet:209341"} synonym: "Kugelberg-Welander syndrome, autosomal dominant" RELATED [OMIM:158600] synonym: "Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures" EXACT [Orphanet:209341] synonym: "Sma-led" RELATED [OMIM:158600] synonym: "SMALED1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:158600, Orphanet:209341] synonym: "spinal muscular atrophy, childhood, proximal, autosomal dominant" RELATED [OMIM:158600] synonym: "spinal muscular atrophy, juvenile, proximal, autosomal dominant" RELATED [OMIM:158600] synonym: "spinal muscular atrophy, lower extremity-predominant 1, AD" EXACT [OMIM:158600, OMIM:genemap2] synonym: "spinal muscular atrophy, LOWER extremity-predominant, 1, autosomal dominant" RELATED [MONDO:Lexical, OMIM:158600] xref: DOID:0070351 {source="MONDO:equivalentTo"} xref: MESH:C563560 {source="MONDO:equivalentTo"} xref: OMIM:158600 {source="MONDO:equivalentTo", source="Orphanet:209341", source="Orphanet:209341/e"} xref: Orphanet:209341 {source="MONDO:equivalentTo", source="OMIM:158600"} xref: UMLS:C1834690 {source="MONDO:equivalentTo", source="Orphanet:209341", source="MONDO:ncbi_mim2gene_medline", source="OMIM:158600"} is_a: MONDO:0018190 {source="OMIM:158600", source="Orphanet:209341"} ! autosomal dominant childhood-onset proximal spinal muscular atrophy property_value: exactMatch DOID:0070351 property_value: exactMatch http://identifiers.org/mesh/C563560 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834690 property_value: exactMatch https://omim.org/entry/158600 property_value: exactMatch Orphanet:209341 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008029 name: Bethlem myopathy def: "A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles." [NCIT:C126688] comment: Editor note: consider separating type 1 form subset: ordo_disease {source="Orphanet:610"} subset: prototype_pattern synonym: "benign autosomal dominant myopathy" EXACT [Orphanet:610] synonym: "benign congenital muscular dystrophy" EXACT [DOID:0050663] synonym: "Bethlem myopathy 1" RELATED [MONDO:Lexical, OMIM:158810] synonym: "Bethlem myopathy type 1" EXACT [MONDORULE:1, OMIM:158810] synonym: "BTHLM1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:158810] xref: DOID:0050663 {source="MONDO:equivalentTo"} xref: MESH:C535436 {source="Orphanet:610", source="MONDO:equivalentTo", source="Orphanet:610/e"} xref: NCIT:C126688 {source="MONDO:equivalentTo"} xref: OMIMPS:158810 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:610 {source="MONDO:equivalentTo", source="OMIM:158810"} xref: SCTID:718572004 {source="MONDO:equivalentTo"} xref: UMLS:C1834674 {source="Orphanet:610", source="MONDO:equivalentTo", source="Orphanet:610/e", source="NCIT:C126688", source="OMIM:158810"} is_a: MONDO:0016106 {source="Orphanet:610"} ! progressive muscular dystrophy is_a: MONDO:0019950 {source="DOID:0050663", source="Orphanet:610"} ! congenital muscular dystrophy is_a: MONDO:0019952 {source="https://orcid.org/0000-0002-0736-9199"} ! congenital myopathy property_value: exactMatch DOID:0050663 property_value: exactMatch http://identifiers.org/mesh/C535436 property_value: exactMatch http://identifiers.org/snomedct/718572004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834674 property_value: exactMatch https://omim.org/phenotypicSeries/PS158810 property_value: exactMatch NCIT:C126688 property_value: exactMatch Orphanet:610 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5658 xsd:anyURI [Term] id: MONDO:0008032 name: obsolete autosomal dominant limb-girdle muscular dystrophy type 1A property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2733 xsd:anyURI is_obsolete: true replaced_by: MONDO:0012215 [Term] id: MONDO:0008038 name: ataxia-pancytopenia syndrome def: "A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia." [Orphanet:2585] subset: ordo_malformation_syndrome {source="Orphanet:2585"} synonym: "ataxia-pancytopenia syndrome" EXACT [OMIM:159550] synonym: "ATXPC" RELATED ABBREVIATION [OMIM:159550] synonym: "myelocerebellar disorder" EXACT [OMIM:159550, Orphanet:2585] xref: ICD10CM:D61.0 {source="Orphanet:2585/attributed", source="Orphanet:2585/ntbt", source="MONDO:relatedTo", source="Orphanet:2585"} xref: MESH:C563233 {source="MONDO:equivalentTo"} xref: NCIT:C176909 {source="MONDO:equivalentTo"} xref: OMIM:159550 {source="Orphanet:2585", source="MONDO:equivalentTo", source="Orphanet:2585/e"} xref: Orphanet:2585 {source="OMIM:159550", source="MONDO:equivalentTo"} xref: SCTID:768556005 {source="MONDO:equivalentTo"} xref: UMLS:C1327919 {source="OMIM:159550", source="Orphanet:2585", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0100310 {source="https://orcid.org/0000-0002-0736-9199"} ! hereditary cerebellar ataxia property_value: exactMatch http://identifiers.org/mesh/C563233 property_value: exactMatch http://identifiers.org/snomedct/768556005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1327919 property_value: exactMatch https://omim.org/entry/159550 property_value: exactMatch NCIT:C176909 property_value: exactMatch Orphanet:2585 property_value: excluded_subClassOf MONDO:0015141 {source="Orphanet:2585"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5654 xsd:anyURI [Term] id: MONDO:0008043 name: myoclonus-cerebellar ataxia-deafness syndrome def: "This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss." [Orphanet:2589] subset: ordo_malformation_syndrome {source="Orphanet:2589"} synonym: "myoclonus cerebellar ataxia deafness" RELATED [GARD:0003873] synonym: "myoclonus, cerebellar ataxia, and deafness" RELATED [OMIM:159800] xref: MESH:C563549 {source="MONDO:equivalentTo"} xref: OMIM:159800 {source="MONDO:equivalentTo", source="Orphanet:2589", source="Orphanet:2589/e"} xref: Orphanet:2589 {source="MONDO:equivalentTo", source="OMIM:159800"} xref: UMLS:C1834579 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2589", source="OMIM:159800"} is_a: EFO:0009671 {source="Orphanet:2589"} ! hereditary ataxia property_value: exactMatch http://identifiers.org/mesh/C563549 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834579 property_value: exactMatch https://omim.org/entry/159800 property_value: exactMatch Orphanet:2589 [Term] id: MONDO:0008045 name: spinal muscular atrophy-progressive myoclonic epilepsy syndrome def: "Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus." [Orphanet:2590] subset: gard_rare subset: ordo_disease {source="Orphanet:2590"} synonym: "hereditary myoclonus and progressive distal muscular atrophy" RELATED [GARD:0003044] synonym: "hereditary myoclonus-progressive distal muscular atrophy syndrome" EXACT [Orphanet:2590] synonym: "Jankovic Rivera syndrome" RELATED [GARD:0003044] synonym: "Jankovic-Rivera syndrome" EXACT [Orphanet:2590] synonym: "myoclonus hereditary progressive distal muscular atrophy" RELATED [GARD:0003875] synonym: "myoclonus, hereditary, with progressive distal muscular atrophy" RELATED [OMIM:159950] synonym: "SMAPME" RELATED ABBREVIATION [MONDO:Lexical, OMIM:159950] synonym: "spinal muscular atrophy with progressive myoclonic epilepsy" RELATED [MONDO:Lexical, OMIM:159950] xref: DOID:0111527 {source="MONDO:equivalentTo"} xref: ICD9:345.10 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537563 {source="MONDO:equivalentTo"} xref: OMIM:159950 {source="Orphanet:2590/e", source="MONDO:equivalentTo", source="Orphanet:2590", source="GARD:0003044"} xref: Orphanet:2590 {source="MONDO:equivalentTo", source="OMIM:159950"} xref: SCTID:703524005 {source="MONDO:equivalentTo"} xref: UMLS:C1834569 {source="Orphanet:2590/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:159950", source="Orphanet:2590", source="GARD:0003044"} is_a: EFO:0004280 {source="MONDO:0017652-obsoleted"} ! movement disorder is_a: EFO:0008525 {source="https://orcid.org/0000-0002-0736-9199"} ! spinal muscular atrophy is_a: MONDO:0024257 ! hereditary motor neuron disease is_a: MONDO:0100524 {source="https://clinicalgenome.org/affiliation/40110/"} ! ASAH1-related sphingolipidosis property_value: exactMatch DOID:0111527 property_value: exactMatch http://identifiers.org/mesh/C537563 property_value: exactMatch http://identifiers.org/snomedct/703524005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834569 property_value: exactMatch https://omim.org/entry/159950 property_value: exactMatch Orphanet:2590 property_value: excluded_subClassOf MONDO:0100036 {source="MONDO:0017655-obsoleted"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5881 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/pull/2571/ xsd:anyURI [Term] id: MONDO:0008046 name: autosomal dominant myoglobinuria def: "Autosomal dominant myoglobinuria is a rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997." [Orphanet:99846] subset: ordo_disease {source="Orphanet:99846"} synonym: "myoglobinuria, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:160010] xref: MESH:C563546 {source="MONDO:equivalentTo"} xref: OMIM:160010 {source="MONDO:equivalentTo", source="Orphanet:99846", source="Orphanet:99846/e"} xref: Orphanet:99846 {source="MONDO:equivalentTo", source="OMIM:160010"} xref: SCTID:725903003 {source="MONDO:equivalentTo"} xref: UMLS:C1834567 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:99846", source="OMIM:160010"} is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0000866 {source="DC-OMIM:160010", source="MESH:C563546", source="MONDO:Entailed", source="MONDO:Redundant"} ! hereditary myoglobinuria is_a: MONDO:0019052 {source="MONDO:0019602-obsoleted"} ! inborn errors of metabolism is_a: MONDO:0700223 ! hereditary skeletal muscle disorder property_value: exactMatch http://identifiers.org/mesh/C563546 property_value: exactMatch http://identifiers.org/snomedct/725903003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834567 property_value: exactMatch https://omim.org/entry/160010 property_value: exactMatch Orphanet:99846 property_value: excluded_subClassOf MONDO:0016117 {source="Orphanet:99846"} [Term] id: MONDO:0008047 name: episodic ataxia type 1 def: "Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia." [Orphanet:37612] subset: ordo_disease {source="Orphanet:37612"} synonym: "acetazolamide-responsive periodic ataxia" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK25442/] synonym: "ataxia, episodic, with myokymia" RELATED [OMIM:160120] synonym: "continuous muscle fiber activity" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK25442/] synonym: "continuous muscle fiber activity, hereditary" RELATED [OMIM:160120] synonym: "continuous muscle fibre activity" EXACT OMO:0003005 [] synonym: "continuous muscle fibre activity, hereditary" RELATED OMO:0003005 [] synonym: "EA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:160120] synonym: "episodic ataxia with myokymia" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK25442/, OMIM:160120, Orphanet:37612] synonym: "episodic ataxia, type 1" RELATED [MONDO:Lexical, OMIM:160120] synonym: "episodic ataxia/myokymia syndrome" EXACT [OMIM:160120, OMIM:genemap2] synonym: "familial paroxysmal kinesigenic ataxia and continuous myokymia" EXACT [] synonym: "hereditary episodic ataxia caused by mutation in KCNA1" EXACT [MONDO:design_pattern] synonym: "hereditary paroxysmal ataxia with neuromyotonia" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK25442/] synonym: "Isaacs-Mertens syndrome" RELATED [https://www.ncbi.nlm.nih.gov/books/NBK25442/, OMIM:160120] synonym: "KCNA1 hereditary episodic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "myokymia 1" RELATED [OMIM:160120] synonym: "myokymia 1 with or without hypomagnesemia" RELATED [OMIM:160120] synonym: "myokymia with periodic ataxia" RELATED [OMIM:160120] synonym: "paroxysmal ataxia with neuromyotonia, hereditary" RELATED [OMIM:160120] xref: DOID:0050989 {source="MONDO:equivalentTo"} xref: OMIM:160120 {source="Orphanet:37612/e", source="MONDO:equivalentTo", source="DOID:0050989", source="Orphanet:37612"} xref: Orphanet:37612 {source="MONDO:equivalentTo", source="OMIM:160120"} xref: Orphanet:972 {source="MONDO:relatedTo", source="OMIM:160120"} xref: SCTID:421182009 {source="MONDO:equivalentTo"} xref: UMLS:C1719788 {source="Orphanet:37612/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:160120", source="Orphanet:37612"} xref: UMLS:C1834559 {source="MONDO:relatedTo", source="OMIM:160120"} xref: UMLS:CN042654 {source="MONDO:equivalentTo"} is_a: MONDO:0016227 {source="DOID:0050989", source="MONDO:Redundant", source="OMIM:160120", source="Orphanet:37612"} ! hereditary episodic ataxia is_a: MONDO:0020127 ! hereditary peripheral neuropathy property_value: exactMatch DOID:0050989 property_value: exactMatch http://identifiers.org/snomedct/421182009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1719788 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN042654 property_value: exactMatch https://omim.org/entry/160120 property_value: exactMatch Orphanet:37612 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008048 name: autosomal dominant centronuclear myopathy def: "An inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy." [Orphanet:169189] subset: gard_rare {source="GARD:0012719"} subset: ordo_disease {source="Orphanet:169189"} subset: prototype_pattern synonym: "AD-CNM" EXACT [Orphanet:169189] synonym: "autosomal dominant centronuclear myopathy" EXACT [] synonym: "autosomal dominant centronuclear myopathy caused by mutation in MYF6" EXACT [MONDO:design_pattern] synonym: "centronuclear myopathy 1" EXACT [NCIT:C126689] synonym: "centronuclear myopathy, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] synonym: "centronuclear myopathy, autosomal, modifier of" EXACT [OMIM:160150, OMIM:genemap2] synonym: "CNM1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:160150] synonym: "CNM3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614408] synonym: "DNM2-related centronuclear myopathy" RELATED [GARD:0012719] synonym: "myopathy, centronuclear, 1" EXACT [GARD:0012719, MONDO:Lexical, OMIM:160150] synonym: "myopathy, centronuclear, 3" EXACT [MONDO:Lexical, OMIM:614408] synonym: "myopathy, centronuclear, autosomal dominant" EXACT [OMIM:160150] synonym: "myopathy, centronuclear, type 1" EXACT [MONDORULE:1, OMIM:160150] synonym: "myopathy, centronuclear, type 3" EXACT [MONDORULE:1, OMIM:614408] synonym: "myotubular myopathy, autosomal dominant" EXACT [OMIM:160150] xref: DOID:0111217 {source="MONDO:equivalentTo"} xref: DOID:0111223 {source="MONDO:equivalentTo"} xref: NCIT:C126689 {source="MONDO:equivalentTo"} xref: OMIM:160150 {source="MONDO:equivalentTo"} xref: OMIM:614408 {source="MONDO:equivalentObsolete"} xref: Orphanet:169189 {source="MONDO:equivalentTo", source="OMIM:160150"} xref: SCTID:716696006 {source="MONDO:equivalentTo"} xref: UMLS:C1834558 {source="Orphanet:169189", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:160150"} xref: UMLS:C3280703 {source="MONDO:equivalentObsolete", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614408"} is_a: MONDO:0000426 {source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0002921 {source="NCIT:C126689", source="OMIM:160150"} ! congenital structural myopathy is_a: MONDO:0018947 {source="DC-OMIM:160150", source="MONDO:Redundant", source="OMIM:160150", source="OMIM:614408", source="Orphanet:169189"} ! centronuclear myopathy property_value: exactMatch DOID:0111217 property_value: exactMatch DOID:0111223 property_value: exactMatch http://identifiers.org/snomedct/716696006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834558 property_value: exactMatch https://omim.org/entry/160150 property_value: exactMatch NCIT:C126689 property_value: exactMatch Orphanet:169189 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5906 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6239 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12719/autosomal-dominant-centronuclear-myopathy xsd:anyURI {source="GARD:0012719"} [Term] id: MONDO:0008050 name: MYH7-related skeletal myopathy def: "Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course." [Orphanet:59135] subset: ordo_disease {source="Orphanet:59135"} synonym: "distal myopathy type 1" EXACT [Orphanet:59135] synonym: "Gowers disease" EXACT [Orphanet:59135] synonym: "Laing distal myopathy" EXACT [OMIM:160500] synonym: "Laing early-onset distal myopathy" EXACT [Orphanet:59135] synonym: "MPD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:160500, Orphanet:59135] synonym: "MYH7-related skeletal myopathy" EXACT [https://clinicalgenome.org/affiliation/40031/, PMID:22918376, PMID:24664454] synonym: "myopathy distal, type 1" RELATED [GARD:0010769] synonym: "myopathy, distal, 1" RELATED [MONDO:Lexical, OMIM:160500] synonym: "myopathy, distal, early-onset, autosomal dominant" RELATED [OMIM:160500] synonym: "myopathy, distal, type 1" EXACT [MONDORULE:1, OMIM:160500] synonym: "myopathy, late distal hereditary" RELATED [OMIM:160500] synonym: "myosin storage myopathy" RELATED [PMID:22918376, PMID:24664454] xref: DOID:0070197 {source="MONDO:equivalentTo"} xref: OMIM:160500 {source="Orphanet:59135/e", source="MONDO:equivalentTo", source="Orphanet:59135"} xref: Orphanet:59135 {source="OMIM:160500", source="MONDO:equivalentTo"} xref: SCTID:764859001 {source="MONDO:equivalentTo"} xref: UMLS:CN074249 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0016195 {source="Orphanet:59135"} ! qualitative or quantitative defects of beta-myosin heavy chain (MYH7) is_a: MONDO:0018949 {source="DC-OMIM:160500", source="MONDO:Redundant", source="Orphanet:59135"} ! distal myopathy is_a: MONDO:0019952 {source="https://clinicalgenome.org/affiliation/40031/"} ! congenital myopathy property_value: exactMatch DOID:0070197 property_value: exactMatch http://identifiers.org/snomedct/764859001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN074249 property_value: exactMatch https://omim.org/entry/160500 property_value: exactMatch Orphanet:59135 [Term] id: MONDO:0008051 name: tubular aggregate myopathy def: "Tubular aggregate myopathy is a disorder that affects the skeletal muscles. Signs and symptoms typically begin in childhood and worsen over time. The leg muscles are most often affected, but the arm muscles may also be involved. Symptoms include muscle pain, cramping, weakness or stiffness; and exercise-induced muscle fatigue. Affected individuals may have an unusual walking style (gait) or difficulty running, climbing stairs, or getting up from a squatting position. Some individuals develop contractures. This condition may be caused by mutations in the STIM1 or ORAI1 genes. It is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has also been reported." [https://rarediseases.info.nih.gov/diseases/3884/tubular-aggregate-myopathy] subset: gard_rare {source="GARD:0003884"} subset: ordo_disease {source="Orphanet:2593"} subset: prototype_pattern synonym: "myopathy, tubular aggregate, 1" RELATED [MONDO:Lexical, OMIM:160565] synonym: "myopathy, tubular aggregate, type 1" EXACT [MONDORULE:1, OMIM:160565] synonym: "TAM1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:160565] synonym: "tubular aggregate myopathy" EXACT [] xref: DOID:0080089 {source="MONDO:equivalentTo"} xref: OMIMPS:160565 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:2593 {source="OMIM:160565", source="MONDO:equivalentTo"} is_a: MONDO:0019952 {source="Orphanet:2593"} ! congenital myopathy property_value: exactMatch DOID:0080089 property_value: exactMatch https://omim.org/phenotypicSeries/PS160565 property_value: exactMatch Orphanet:2593 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3884/tubular-aggregate-myopathy xsd:anyURI {source="GARD:0003884"} [Term] id: MONDO:0008056 name: myotonic dystrophy type 1 def: "Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness." [Orphanet:273] subset: ordo_disease {source="Orphanet:273"} synonym: "DM1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:160900, Orphanet:273] synonym: "DMPK myotonic dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "dystrophia myotonica" EXACT [DOID:11722, OMIM:160900] synonym: "dystrophia myotonica 1" RELATED [OMIM:160900] synonym: "dystrophia myotonica type 1" RELATED [GARD:0008310] synonym: "MD1" EXACT ABBREVIATION [Orphanet:273] synonym: "myotonic dystrophy 1" RELATED [MONDO:Lexical, OMIM:160900] synonym: "myotonic dystrophy caused by mutation in DMPK" EXACT [MONDO:design_pattern] synonym: "myotonic dystrophy of Steinert" EXACT [DOID:11722] synonym: "myotonic dystrophy type 1" EXACT [MONDORULE:1, OMIM:160900, Orphanet:273] synonym: "Steinert disease" EXACT [DOID:11722, OMIM:160900, Orphanet:273] synonym: "Steinert myotonic dystrophy" RELATED [Orphanet:273] synonym: "Steinert myotonic dystrophy syndrome" EXACT [NCIT:C84679] synonym: "Steinert syndrome" EXACT [NCIT:C84679] synonym: "Steinert's disease" RELATED [GARD:0008310] xref: DOID:11722 {source="MONDO:equivalentTo"} xref: ICD9:359.21 {source="DOID:11722"} xref: NCIT:C84679 {source="MONDO:equivalentTo"} xref: OMIM:160900 {source="Orphanet:273/e", source="DOID:11722", source="MONDO:equivalentTo", source="Orphanet:273"} xref: Orphanet:273 {source="OMIM:160900", source="MONDO:equivalentTo"} is_a: MONDO:0016107 {source="DC-OMIM:160900", source="DOID:11722", source="MONDO:Redundant", source="NCIT:C84679", source="OMIM:160900", source="Orphanet:273"} ! myotonic dystrophy is_a: MONDO:0020158 {source="MONDO:0020169-obsoleted"} ! eyelids malposition disorder is_a: MONDO:0024573 ! familial hypertrophic cardiomyopathy property_value: exactMatch DOID:11722 property_value: exactMatch https://omim.org/entry/160900 property_value: exactMatch NCIT:C84679 property_value: exactMatch Orphanet:273 property_value: excluded_subClassOf MONDO:0015368 [Term] id: MONDO:0008057 name: Carney complex, type 1 def: "Any Carney complex in which the cause of the disease is a mutation in the PRKAR1A gene." [MONDO:patterns/disease_series_by_gene] synonym: "Carney complex caused by mutation in PRKAR1A" EXACT [MONDO:design_pattern] synonym: "Carney complex, type 1" EXACT [MONDO:Lexical, OMIM:160980] synonym: "Carney Myxoma-endocrine Complex" RELATED [OMIM:160980] synonym: "Carney syndrome" RELATED [OMIM:160980] synonym: "CNC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:160980] synonym: "lamb syndrome" RELATED [OMIM:160980] synonym: "myxoma, spotty pigmentation, and endocrine overactivity" RELATED [OMIM:160980] synonym: "name syndrome" RELATED [OMIM:160980] synonym: "PRKAR1A Carney complex" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: OMIM:160980 {source="MONDO:equivalentTo"} is_a: MONDO:0015285 {source="DC-OMIM:160980", source="MONDO:Redundant"} ! Carney complex property_value: exactMatch https://omim.org/entry/160980 [Term] id: MONDO:0008058 name: cylindrical spirals myopathy def: "Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated." [Orphanet:171886] subset: gard_rare {source="GARD:0011906"} subset: ordo_disease {source="Orphanet:171886"} synonym: "myotonic myopathy with cylindrical spirals" RELATED [OMIM:160990] xref: DOID:0080103 {source="MONDO:equivalentTo"} xref: MESH:C563535 {source="MONDO:equivalentTo"} xref: OMIM:160990 {source="DOID:0080103", source="MONDO:equivalentTo"} xref: Orphanet:171886 {source="MONDO:equivalentTo"} xref: SCTID:764525006 {source="MONDO:equivalentTo"} xref: UMLS:C1834418 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:160990"} is_a: MONDO:0019952 {source="DOID:0080103", source="Orphanet:171886"} ! congenital myopathy property_value: exactMatch DOID:0080103 property_value: exactMatch http://identifiers.org/mesh/C563535 property_value: exactMatch http://identifiers.org/snomedct/764525006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834418 property_value: exactMatch https://omim.org/entry/160990 property_value: exactMatch Orphanet:171886 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11906/cylindrical-spirals-myopathy xsd:anyURI {source="GARD:0011906"} [Term] id: MONDO:0008059 name: Naegeli-Franceschetti-Jadassohn syndrome def: "Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth." [Orphanet:69087] subset: ordo_disease {source="Orphanet:69087"} synonym: "NAEGELI syndrome" RELATED [OMIM:161000] synonym: "Naegeli syndrome" EXACT [Orphanet:69087] synonym: "NAEGELI-Franceschetti-Jadassohn syndrome" RELATED [OMIM:161000] synonym: "Naegeli-Franceschetti-Jadassohn syndrome" EXACT [OMIM:161000] synonym: "NFJ syndrome" EXACT [Orphanet:69087] synonym: "Nfj syndrome" RELATED [OMIM:161000] synonym: "NFJS" RELATED ABBREVIATION [GARD:0003912, OMIM:161000] synonym: "reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy" RELATED [GARD:0003912] xref: DOID:0111528 {source="MONDO:equivalentTo"} xref: MESH:C538331 {source="MONDO:equivalentTo"} xref: OMIM:161000 {source="MONDO:equivalentTo", source="Orphanet:69087", source="Orphanet:69087/e"} xref: Orphanet:69087 {source="MONDO:equivalentTo", source="OMIM:161000"} xref: SCTID:239084001 {source="MONDO:equivalentTo"} xref: UMLS:C0343111 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:69087", source="OMIM:161000"} is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma is_a: MONDO:0019287 {source="MESH:C538331", source="Orphanet:69087"} ! ectodermal dysplasia syndrome is_a: MONDO:0019289 {source="Orphanet:69087"} ! hyperpigmentation of the skin property_value: exactMatch DOID:0111528 property_value: exactMatch http://identifiers.org/mesh/C538331 property_value: exactMatch http://identifiers.org/snomedct/239084001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343111 property_value: exactMatch https://omim.org/entry/161000 property_value: exactMatch Orphanet:69087 [Term] id: MONDO:0008060 name: nonsyndromic congenital nail disorder 1 def: "Nail dysplasia is an idiopathic nail dystrophy, beginning in early childhood, and characterized by excessive longitudinal striations and loss of nail luster affecting all 20 nails." [Orphanet:79153] subset: ordo_disease {source="Orphanet:79153", source="Orphanet:280654"} synonym: "autosomal dominant nail dysplasia" RELATED [Orphanet:79153] synonym: "autosomal recessive nail dysplasia" RELATED [Orphanet:280654] synonym: "claw-Shaped nails" RELATED [OMIM:614157] synonym: "FZD6 inherited isolated nail anomaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "idiopathic trachyonychia" RELATED [Orphanet:79153] synonym: "inherited isolated nail anomaly caused by mutation in FZD6" EXACT [MONDO:design_pattern] synonym: "nail disorder, nonsyndromic congenital 1" RELATED [GARD:0010363] synonym: "nail disorder, nonsyndromic congenital, 1" RELATED [MONDO:Lexical, OMIM:161050] synonym: "nail disorder, nonsyndromic congenital, 10" RELATED [MONDO:Lexical, OMIM:614157] synonym: "nail disorder, nonsyndromic congenital, type 10" EXACT [MONDORULE:2, OMIM:614157] synonym: "nail Growth" RELATED [OMIM:161050] synonym: "NDNC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:161050] synonym: "NDNC10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614157] synonym: "nonsyndromic congenital nail disorder 10" EXACT [MONDO:0013596] synonym: "nonsyndromic congenital nail disorder type 1" EXACT [DOID:0080079, MONDORULE:1] synonym: "nonsyndromic congenital nail disorder type 10" EXACT [DOID:0080088, MONDORULE:2] synonym: "onychauxis, hyponychia, and onycholysis" RELATED [OMIM:614157] synonym: "onychodystrophy totalis" EXACT [Orphanet:79153] synonym: "onychodystrophy totalis, isolated" RELATED [OMIM:161050] synonym: "sandpaper nails" RELATED [GARD:0010363] synonym: "trachyonychia" RELATED [GARD:0010363] synonym: "twenty nail dystrophy" RELATED [GARD:0010363] synonym: "twenty-nail dystrophy" EXACT [DOID:0080079, OMIM:161050, Orphanet:79153] xref: DOID:0080079 {source="MONDO:equivalentTo"} xref: DOID:0080088 {source="MONDO:equivalentObsolete"} xref: ICD9:703.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562907 {source="MONDO:equivalentTo"} xref: OMIM:161050 {source="DOID:0080079", source="MONDO:equivalentTo", source="Orphanet:79153", source="Orphanet:79153/e"} xref: Orphanet:79153 {source="MONDO:equivalentTo", source="OMIM:161050"} xref: SCTID:238719003 {source="MONDO:equivalentTo"} xref: UMLS:C0406443 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:161050", source="Orphanet:79153"} xref: UMLS:C3279974 {source="OMIM:614157", source="MONDO:equivalentObsolete", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019284 {source="DC-OMIM:161050", source="MONDO:Redundant", source="OMIM:161050", source="Orphanet:79153"} ! inherited isolated nail anomaly relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch DOID:0080079 property_value: exactMatch http://identifiers.org/mesh/C562907 property_value: exactMatch http://identifiers.org/snomedct/238719003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406443 property_value: exactMatch https://omim.org/entry/161050 property_value: exactMatch Orphanet:79153 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0008061 name: nail-patella syndrome def: "A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies." [Orphanet:2614] subset: gard_rare {source="GARD:0007160"} subset: ordo_malformation_syndrome {source="Orphanet:2614"} synonym: "arthro-onychodysplasia" RELATED [GARD:0007160] synonym: "Fong disease" EXACT [DOID:9467] synonym: "hereditary onychoostedysplasia" EXACT [DOID:9467] synonym: "hereditary Osteo-onychodysplasia" EXACT [NCIT:C75120] synonym: "iliac horn syndrome" EXACT [DOID:9467] synonym: "nail patella syndrome" EXACT [DOID:9467] synonym: "nail-patella syndrome" EXACT [MONDO:Lexical, OMIM:161200] synonym: "NPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:161200] synonym: "NPS 1" EXACT [GARD:0007160] synonym: "NPS1" EXACT [OMIM:161200] synonym: "onychoosteodysplasia" EXACT [OMIM:161200, Orphanet:2614] synonym: "osteo-onychodysplasia" EXACT [GARD:0007160] synonym: "Turner-Kieser syndrome" EXACT [OMIM:161200, Orphanet:2614] synonym: "Turner-Kiser syndrome" EXACT [DOID:9467] xref: DOID:9467 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10063431 {source="Orphanet:2614", source="Orphanet:2614/e"} xref: MESH:D009261 {source="MONDO:equivalentTo", source="Orphanet:2614", source="DOID:9467", source="Orphanet:2614/e"} xref: NCIT:C75120 {source="MONDO:equivalentTo", source="DOID:9467"} xref: OMIM:161200 {source="MONDO:equivalentTo", source="Orphanet:2614", source="DOID:9467", source="Orphanet:2614/e"} xref: Orphanet:2614 {source="MONDO:equivalentTo", source="OMIM:161200"} xref: SCTID:22199006 {source="MONDO:equivalentTo", source="DOID:9467"} xref: UMLS:C0027341 {source="MONDO:equivalentTo", source="NCIT:C75120", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2614", source="OMIM:161200", source="DOID:9467", source="Orphanet:2614/e"} is_a: EFO:0003966 ! eye disease is_a: MONDO:0000426 {source="DOID:9467", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75120"} ! syndromic disease is_a: MONDO:0019712 {source="Orphanet:2614", source="PMID:31633310"} ! patellar dysostosis property_value: closeMatch http://identifiers.org/meddra/10063431 property_value: exactMatch DOID:9467 property_value: exactMatch http://identifiers.org/mesh/D009261 property_value: exactMatch http://identifiers.org/snomedct/22199006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027341 property_value: exactMatch https://omim.org/entry/161200 property_value: exactMatch NCIT:C75120 property_value: exactMatch Orphanet:2614 property_value: excluded_subClassOf MONDO:0015163 {source="Orphanet:2614"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7160/nail-patella-syndrome xsd:anyURI {source="GARD:0007160"} [Term] id: MONDO:0008071 name: autosomal dominant progressive nephropathy with hypertension subset: ordo_disease {source="Orphanet:88659"} synonym: "nephritis, familial, without deafness or ocular defect" RELATED [OMIM:161900] synonym: "nephropathy, familial" RELATED [OMIM:161900] synonym: "nephropathy-hypertension" EXACT [OMIM:161900, OMIM:genemap2] synonym: "renal failure, adult-onset" RELATED [OMIM:161900] synonym: "renal failure, progressive, with hypertension" RELATED [MONDO:Lexical, OMIM:161900] synonym: "RFH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:161900] xref: ICD9:583.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562889 {source="MONDO:equivalentTo"} xref: OMIM:161900 {source="MONDO:equivalentTo", source="Orphanet:88659", source="Orphanet:88659/e"} xref: Orphanet:88659 {source="OMIM:161900", source="MONDO:equivalentTo"} xref: SCTID:703310005 {source="MONDO:equivalentTo"} xref: UMLS:C0403443 {source="OMIM:161900", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C3839782 {source="MONDO:equivalentTo"} is_a: EFO:0003086 {source="https://orcid.org/0000-0001-5208-3432"} ! kidney disease property_value: exactMatch http://identifiers.org/mesh/C562889 property_value: exactMatch http://identifiers.org/snomedct/703310005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0403443 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3839782 property_value: exactMatch https://omim.org/entry/161900 property_value: exactMatch Orphanet:88659 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008073 name: familial juvenile hyperuricemic nephropathy type 1 def: "A rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age." [Orphanet:209886] subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:88950"} subset: ordo_disease {source="Orphanet:209886"} subset: prototype_pattern synonym: "ADMCKD2" RELATED ABBREVIATION [GARD:0010679] synonym: "ADTKD-UMOD" EXACT ABBREVIATION [https://clinicalgenome.org/affiliation/50066/, Orphanet:88950] synonym: "autosomal dominant medullary cystic kidney disease type 2" EXACT [Orphanet:88950] synonym: "autosomal dominant medullary cystic kidney disease with hyperuricemia" EXACT [] synonym: "autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD" EXACT [https://clinicalgenome.org/affiliation/50066/] synonym: "familial juvenile gouty nephropathy" BROAD [Orphanet:209886] synonym: "familial juvenile hyperuricaemic nephropathy" RELATED [GARD:0006806] synonym: "familial juvenile hyperuricemic nephropathy caused by mutation in UMOD" EXACT [MONDO:design_pattern] synonym: "familial nephropathy with gout" BROAD [Orphanet:209886] synonym: "FJHN type 1" EXACT [Orphanet:209886] synonym: "glomerulocystic kidney disease with hyperuricemia and isosthenuria" EXACT [OMIM:609886] synonym: "gouty nephropathy, familial juvenile" BROAD [OMIM:162000] synonym: "HNFJ1" EXACT ABBREVIATION [OMIM:162000] synonym: "hyperuricemic nephropathy, familial juvenile" BROAD [OMIM:162000] synonym: "hyperuricemic nephropathy, familial juvenile, 1" EXACT [MONDO:Lexical, OMIM:162000] synonym: "hyperuricemic nephropathy, familial juvenile, type 1" EXACT [MONDORULE:1, OMIM:162000] synonym: "MCKD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:603860] synonym: "medullary cystic kidney disease 2" EXACT [MONDO:Lexical, OMIM:603860] synonym: "medullary cystic kidney disease 2, autosomal dominant" RELATED [OMIM:603860] synonym: "medullary cystic kidney disease type 2" EXACT [MONDORULE:1, OMIM:603860] synonym: "medullary cystic kidney disease type II" EXACT [NCIT:C123172] synonym: "nephropathy, familial, with gout" BROAD [OMIM:162000] synonym: "tubulointerstitial kidney disease, autosomal dominant, 1" EXACT [OMIM:162000, OMIM:genemap2] synonym: "UMOD familial juvenile hyperuricemic nephropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "UMOD-associated familial juvenile hyperuricemic nephropathy" EXACT [Orphanet:209886] synonym: "UMOD-associated FJHN" EXACT [Orphanet:209886] synonym: "UMOD-related ADTKD" EXACT [Orphanet:88950] synonym: "UMOD-related autosomal dominant tubulointerstitial kidney disease" RELATED [Orphanet:88950] synonym: "UMOD-related kidney disease" EXACT [GARD:0006806] synonym: "uromodulin storage disease" EXACT [] synonym: "uromodulin-associated kidney disease" EXACT [GARD:0006806] xref: EFO:0008618 {source="MONDO:equivalentTo"} xref: MESH:C563693 {source="MONDO:equivalentTo"} xref: NCIT:C123172 {source="MONDO:equivalentTo"} xref: OMIM:162000 {source="Orphanet:209886/e", source="MONDO:equivalentTo", source="GARD:0006806", source="Orphanet:209886"} xref: OMIM:603860 {source="MONDO:equivalentObsolete"} xref: OMIM:609886 {source="MONDO:equivalentObsolete"} xref: Orphanet:209886 {source="MONDO:equivalentObsolete", source="GARD:0006806", source="OMIM:162000"} xref: Orphanet:34149 {source="OMIM:603860", source="MONDO:relatedTo", source="OMIM:609886"} xref: Orphanet:88950 {source="MONDO:equivalentTo"} xref: SCTID:445503007 {source="MONDO:equivalentTo"} xref: UMLS:C1835934 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609886"} xref: UMLS:C4054550 {source="NCIT:C123172", source="MONDO:equivalentTo"} xref: UMLS:CN206322 {source="MONDO:equivalentTo"} xref: UMLS:CN239214 {source="MONDO:equivalentTo"} is_a: MONDO:0000608 {source="DC-OMIM:162000", source="MONDO:Redundant", source="OMIM:162000"} ! familial juvenile hyperuricemic nephropathy is_a: MONDO:0008264 {source="Orphanet:88950"} ! autosomal dominant medullary cystic kidney disease with or without hyperuricemia is_a: MONDO:0019236 {source="Orphanet:209886"} ! inborn disorder of purine metabolism property_value: exactMatch http://identifiers.org/mesh/C563693 property_value: exactMatch http://identifiers.org/snomedct/445503007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835934 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4054550 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206322 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239214 property_value: exactMatch https://omim.org/entry/162000 property_value: exactMatch NCIT:C123172 property_value: exactMatch Orphanet:88950 property_value: excluded_subClassOf MONDO:0008264 {source="Orphanet:34149/btnt"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1880 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4444 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6806/familial-juvenile-hyperuricaemic-nephropathy xsd:anyURI {source="GARD:0006806"} [Term] id: MONDO:0008075 name: schwannomatosis def: "The least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium." [https://orcid.org/0000-0001-5208-3432, Orphanet:93921] subset: ordo_disease {source="Orphanet:93921"} synonym: "congenital cutaneous neurilemmomatosis" RELATED [GARD:0004768] synonym: "neurilemmomatosis" EXACT DEPRECATED [DOID:3204, Orphanet:93921, Wikipedia:Schwannomatosis] synonym: "neurilemmomatosis congenital cutaneous" RELATED [GARD:0004768] synonym: "neurilemmomatosis, congenital cutaneous" RELATED [OMIM:162091] synonym: "neurinoma" RELATED DEPRECATED [Wikipedia:Schwannomatosis] synonym: "Neurinomatosis" EXACT [NCIT:C6557] synonym: "neurofibromatosis type 3" EXACT [] synonym: "NF3" EXACT ABBREVIATION [Orphanet:93921] synonym: "Schwannomatosis" EXACT [Orphanet:93921] synonym: "schwannomatosis" EXACT [MONDO:0002557] xref: DOID:3204 {source="MONDO:equivalentTo"} xref: ICD9:237.73 {source="DOID:3204"} xref: ICDO:9560/1 {source="NCIT:C6557"} xref: NCIT:C6557 {source="MONDO:equivalentTo", source="DOID:3204"} xref: OMIMPS:162091 {source="MONDO:equivalentTo"} xref: Orphanet:93921 {source="OMIM:162091", source="MONDO:equivalentTo"} xref: UMLS:C1335929 {source="Orphanet:93921/e", source="OMIM:162091", source="MONDO:equivalentTo", source="DOID:3204", source="NCIT:C6557", source="Orphanet:93921"} is_a: EFO:0000693 {source="DOID:3204", source="NCIT:C6557"} ! schwannoma is_a: EFO:0008514 {source="Wikipedia:Schwannomatosis"} ! neurofibromatosis is_a: MONDO:0015950 ! inherited skin tumor is_a: MONDO:0019289 {source="Orphanet:93921"} ! hyperpigmentation of the skin is_a: MONDO:0019755 ! developmental defect during embryogenesis property_value: exactMatch DOID:3204 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335929 property_value: exactMatch https://omim.org/phenotypicSeries/PS162091 property_value: exactMatch NCIT:C6557 property_value: exactMatch Orphanet:93921 [Term] id: MONDO:0008082 name: multiple endocrine neoplasia type 2B def: "Multiple endocrine neoplasia 2B (MEN2B) syndrome is a rare aggressive form of MEN2 characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal ganglioneuroma, and marfanoid habitus." [Orphanet:247709] subset: gard_rare {source="GARD:0010225"} subset: ordo_clinical_subtype {source="Orphanet:247709"} synonym: "men 2B" EXACT [NCIT:C3227] synonym: "men IIB" EXACT [NCIT:C3227] synonym: "men type 2B" EXACT [NCIT:C3227] synonym: "men type IIB" EXACT [DOID:10016, NCIT:C3227] synonym: "MEN2B" EXACT ABBREVIATION [DOID:10016, MONDO:Lexical, OMIM:162300, Orphanet:247709] synonym: "mucosal Neuroma syndrome" RELATED [OMIM:162300] synonym: "mucosal neuroma syndrome" EXACT [DOID:10016] synonym: "multiple endocrine adenomatosis type IIB" EXACT [NCIT:C3227] synonym: "multiple endocrine neoplasia IIB" EXACT [OMIM:162300, OMIM:genemap2] synonym: "multiple endocrine neoplasia type 2B" EXACT [DOID:10016, NCIT:C3227] synonym: "multiple endocrine neoplasia type 3" EXACT [Orphanet:247709] synonym: "multiple endocrine neoplasia type IIB" EXACT [NCIT:C3227] synonym: "multiple endocrine neoplasia type III" EXACT [NCIT:C3227] synonym: "multiple endocrine neoplasia, type 2B" RELATED [OMIM:162300] synonym: "multiple endocrine neoplasia, type 3" EXACT [DOID:10016] synonym: "multiple endocrine neoplasia, type 3 (formerly)" RELATED [GARD:0010225] synonym: "multiple endocrine neoplasia, type IIB" RELATED [MONDO:Lexical, OMIM:162300] synonym: "multiple endocrine neoplasia, type III" EXACT [NCIT:C3227, OMIM:162300] synonym: "multiple endocrine neoplasia, type III, formerly" RELATED [OMIM:162300] synonym: "Neuromata, mucosal, with endocrine tumors" RELATED [OMIM:162300] synonym: "Neuromata, mucosal, with endocrine tumours" RELATED OMO:0003005 [] synonym: "Wagenmann-Froboese syndrome" EXACT [DOID:10016, OMIM:162300, Orphanet:247709] xref: DOID:10016 {source="MONDO:equivalentTo"} xref: ICD9:237.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:258.03 {source="DOID:10016", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10056420 {source="Orphanet:247709/e", source="Orphanet:247709"} xref: MESH:D018814 {source="DOID:10016", source="Orphanet:247709/e", source="MONDO:equivalentTo", source="Orphanet:247709"} xref: NCIT:C3227 {source="DOID:10016", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: OMIM:162300 {source="DOID:10016", source="Orphanet:247709/e", source="MONDO:equivalentTo", source="Orphanet:247709"} xref: Orphanet:247709 {source="DOID:10016", source="MONDO:equivalentTo", source="OMIM:162300"} xref: SCTID:61530001 {source="DOID:10016", source="MONDO:equivalentTo"} xref: UMLS:C0025269 {source="DOID:10016", source="Orphanet:247709/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:162300", source="Orphanet:247709", source="NCIT:C3227"} is_a: EFO:1000363 {source="MONDO:Redundant", source="MONDO:indirect"} ! Malignant Urinary System Neoplasm is_a: MONDO:0000426 {source="DOID:10016", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0019003 {source="NCIT:C3227", source="Orphanet:247709"} ! multiple endocrine neoplasia type 2 property_value: closeMatch http://identifiers.org/meddra/10056420 property_value: exactMatch DOID:10016 property_value: exactMatch http://identifiers.org/mesh/D018814 property_value: exactMatch http://identifiers.org/snomedct/61530001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025269 property_value: exactMatch https://omim.org/entry/162300 property_value: exactMatch NCIT:C3227 property_value: exactMatch Orphanet:247709 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10225/multiple-endocrine-neoplasia-type-2b xsd:anyURI {source="GARD:0010225"} [Term] id: MONDO:0008083 name: ceroid lipofuscinosis, neuronal, 4 (Kufs type) def: "A condition associated with mutation(s) in the DNAJC5 gene, encoding dnaJ homolog subfamily C member 5. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." [NCIT:C128116] subset: ordo_etiological_subtype {source="Orphanet:228343"} synonym: "adult neuronal ceroid lipofuscinosis 4B" RELATED [GARD:0001222] synonym: "autosomal dominant Kufs disease" EXACT [NCIT:C128116] synonym: "autosomal dominant neuronal ceroid lipofuscinosis 4B" EXACT [DOID:0110720] synonym: "ceroid lipofuscinosis, neuronal, 4 (Kufs type)" EXACT [OMIM:162350] synonym: "ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant" EXACT [OMIM:162350, OMIM:genemap2] synonym: "ceroid lipofuscinosis, neuronal, 4B, autosomal dominant" RELATED [MONDO:Lexical, OMIM:162350] synonym: "ceroid lipofuscinosis, neuronal, parry type" RELATED [OMIM:162350] synonym: "CLN4" EXACT ABBREVIATION [OMIM:162350] synonym: "CLN4B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:162350] synonym: "CLN4B disease" EXACT [DOID:0110720] synonym: "Kuf's disease type B" RELATED [GARD:0001222] synonym: "Kuf's disease, autosomal dominant" RELATED [GARD:0001222] synonym: "Kufs disease, autosomal dominant" RELATED [OMIM:162350] synonym: "neuronal ceroid lipofuscinosis 4 parry type" EXACT [DOID:0110720] synonym: "neuronal ceroid lipofuscinosis 4B" EXACT [DOID:0110720] synonym: "neuronal ceroid lipofuscinosis type 4B" EXACT [DOID:0110720, MONDORULE:4] synonym: "neuronal ceroid lipofuscinosis, parry type" EXACT [NCIT:C128116] xref: DOID:0110720 {source="MONDO:equivalentTo"} xref: NCIT:C128116 {source="MONDO:equivalentTo"} xref: OMIM:162350 {source="DOID:0110720", source="Orphanet:228343/e", source="MONDO:equivalentTo", source="Orphanet:228343"} xref: Orphanet:228343 {source="DOID:0110720", source="MONDO:equivalentTo", source="OMIM:162350"} xref: UMLS:C1834207 {source="MONDO:equivalentTo", source="NCIT:C128116", source="MONDO:ncbi_mim2gene_medline", source="OMIM:162350"} xref: UMLS:C4284284 {source="MONDO:equivalentTo"} is_a: MONDO:0019260 {source="Orphanet:228343"} ! adult neuronal ceroid lipofuscinosis property_value: exactMatch DOID:0110720 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834207 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4284284 property_value: exactMatch https://omim.org/entry/162350 property_value: exactMatch NCIT:C128116 property_value: exactMatch Orphanet:228343 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008087 name: hereditary neuropathy with liability to pressure palsies def: "Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities." [Orphanet:640] subset: ordo_malformation_syndrome {source="Orphanet:640"} synonym: "current pressure-sensitive neuropathy" EXACT [DOID:0060843, Orphanet:640] synonym: "familial recurrent polyneuropathy" EXACT [DOID:0060843] synonym: "hereditary liability to pressure palsies" EXACT [DECIPHER:31] synonym: "hereditary neuropathy with liability to pressure palsies" EXACT [] synonym: "hereditary neuropathy with liability to pressure palsy" RELATED [GARD:0005221] synonym: "heterozygous microdeletion 17p11.2p12" EXACT [DOID:0060843, Orphanet:640] synonym: "HNPP" EXACT ABBREVIATION [DECIPHER:31, DOID:0060843, MONDO:Lexical, OMIM:162500, Orphanet:640] synonym: "neuropathy, hereditary, with liability to pressure palsies" RELATED [MONDO:Lexical, OMIM:162500] synonym: "neuropathy, recurrent, with pressure palsies" EXACT [OMIM:162500, OMIM:genemap2] synonym: "polyneuropathy, familial recurrent" RELATED [OMIM:162500] synonym: "potato-grubbing palsy" EXACT [DOID:0060843, Orphanet:640] synonym: "Tomaculous neuropathy" EXACT [OMIM:162500, Orphanet:640] synonym: "tomaculous neuropathy" EXACT [DOID:0060843] synonym: "tulip-bulb digger's palsy" EXACT [DOID:0060843, Orphanet:640] xref: DECIPHER:31 {source="MONDO:equivalentTo"} xref: DOID:0060843 {source="MONDO:equivalentTo"} xref: MedDRA:10069382 {source="Orphanet:640/e", source="Orphanet:640"} xref: MESH:C536965 {source="MONDO:equivalentTo"} xref: OMIM:162500 {source="Orphanet:640/e", source="MONDO:equivalentTo", source="DOID:0060843", source="Orphanet:640"} xref: Orphanet:640 {source="MONDO:equivalentTo", source="DOID:0060843", source="OMIM:162500"} xref: SCTID:230558006 {source="MONDO:equivalentTo"} is_a: MONDO:0015359 {source="Orphanet:640"} ! autosomal dominant hereditary demyelinating motor and sensory neuropathy is_a: MONDO:0022754 {source="Orphanet:640"} ! chromosome 17p deletion property_value: closeMatch http://identifiers.org/meddra/10069382 property_value: exactMatch DOID:0060843 property_value: exactMatch http://identifiers.org/mesh/C536965 property_value: exactMatch http://identifiers.org/snomedct/230558006 property_value: exactMatch https://omim.org/entry/162500 property_value: exactMatch Orphanet:640 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008090 name: cyclic hematopoiesis def: "A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever." [NCIT:P378] subset: ordo_disease {source="Orphanet:2686"} synonym: "CH" EXACT ABBREVIATION [NCIT:C3820] synonym: "CN" EXACT ABBREVIATION [NCIT:C3820] synonym: "cyclic agranulocytosis" EXACT [DOID:5339] synonym: "cyclic hematopoiesis" EXACT [DOID:5339, NCIT:C3820, OMIM:162800] synonym: "cyclic neutropenia" RELATED [OMIM:162800] synonym: "cyclical neutropenia" EXACT [DOID:5339] synonym: "dysplasia, myelocytic periodic" EXACT [NCIT:C3820] synonym: "neutropenia cyclic" RELATED [GARD:0006229] synonym: "neutropenia, cyclic" EXACT [OMIM:162800, OMIM:genemap2] synonym: "neutropenia, periodic" EXACT [DOID:5339] synonym: "periodic neutropenia" EXACT [NCIT:C3820] xref: DOID:5339 {source="MONDO:equivalentTo"} xref: ICD9:288.02 {source="DOID:5339", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10053176 {source="Orphanet:2686", source="Orphanet:2686/e"} xref: MESH:C536227 {source="Orphanet:2686", source="DOID:5339", source="MONDO:equivalentTo", source="Orphanet:2686/e"} xref: NCIT:C3820 {source="DOID:5339", source="MONDO:equivalentTo"} xref: OMIM:162800 {source="Orphanet:2686", source="DOID:5339", source="MONDO:equivalentTo", source="Orphanet:2686/e"} xref: Orphanet:2686 {source="OMIM:162800", source="MONDO:equivalentTo"} xref: SCTID:191347008 {source="DOID:5339", source="MONDO:equivalentTo"} is_a: MONDO:0015134 {source="Orphanet:2686"} ! constitutional neutropenia property_value: closeMatch http://identifiers.org/meddra/10053176 property_value: exactMatch DOID:5339 property_value: exactMatch http://identifiers.org/mesh/C536227 property_value: exactMatch http://identifiers.org/snomedct/191347008 property_value: exactMatch https://omim.org/entry/162800 property_value: exactMatch NCIT:C3820 property_value: exactMatch Orphanet:2686 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008092 name: hereditary neutrophilia def: "A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has material basis in heterozygous mutation in the CSF3R gene on chromosome 1p34." [DOID:0090120] subset: ordo_disease {source="Orphanet:279943"} synonym: "neutrophilia, hereditary" RELATED [OMIM:162830] xref: DOID:0090120 {source="MONDO:equivalentTo"} xref: MESH:C563010 {source="MONDO:equivalentTo"} xref: OMIM:162830 {source="DOID:0090120", source="MONDO:equivalentTo", source="Orphanet:279943", source="Orphanet:279943/e"} xref: Orphanet:279943 {source="DOID:0090120", source="MONDO:equivalentTo", source="OMIM:162830"} xref: SCTID:129639005 {source="MONDO:equivalentTo"} xref: UMLS:C0543669 {source="DOID:0090120", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:279943", source="Orphanet:279943/e", source="OMIM:162830"} is_a: MONDO:0004805 {source="DOID:0090120", source="MESH:C563010"} ! leukocyte disorder property_value: exactMatch DOID:0090120 property_value: exactMatch http://identifiers.org/mesh/C563010 property_value: exactMatch http://identifiers.org/snomedct/129639005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0543669 property_value: exactMatch https://omim.org/entry/162830 property_value: exactMatch Orphanet:279943 [Term] id: MONDO:0008093 name: nevus, epidermal def: "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." [NCIT:C4088] synonym: "Epidermal Nevus" EXACT [NCIT:C4088] synonym: "epidermal nevus, somatic" EXACT [OMIM:162900, OMIM:genemap2] synonym: "Nevus sebaceous" RELATED [OMIM:162900] synonym: "nevus sebaceous or woolly hair nevus, somatic" EXACT OMO:0003005 [] synonym: "nevus sebaceous or wooly hair nevus, somatic" EXACT [OMIM:162900, OMIM:genemap2] synonym: "nevus, epidermal" EXACT [OMIM:162900] synonym: "nevus, epidermal, somatic" EXACT [OMIM:162900, OMIM:genemap2] synonym: "Nevus, Keratinocytic, nonepidermolytic" RELATED [OMIM:162900] synonym: "Nevus, woolly hair" RELATED OMO:0003005 [] synonym: "Nevus, wooly hair" RELATED [OMIM:162900] synonym: "nonepidermolytic keratinocytic nevus" EXACT [DOID:0111162] xref: DOID:0111162 {source="MONDO:equivalentTo"} xref: MESH:C580062 {source="MONDO:equivalentTo"} xref: NCIT:C4088 {source="MONDO:equivalentTo"} xref: OMIM:162900 {source="DOID:0111162", source="MONDO:equivalentTo"} is_a: EFO:0009675 {source="MESH:C580062"} ! melanocytic nevus is_a: MONDO:0015950 ! inherited skin tumor property_value: exactMatch DOID:0111162 property_value: exactMatch http://identifiers.org/mesh/C580062 property_value: exactMatch https://omim.org/entry/162900 property_value: exactMatch NCIT:C4088 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008094 name: familial multiple nevi flammei def: "A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color." [NCIT:C3840] subset: ordo_morphological_anomaly {source="Orphanet:624"} synonym: "capillary malformations" RELATED [OMIM:163000] synonym: "capillary malformations, congenital" RELATED [MONDO:Lexical, OMIM:163000] synonym: "capillary malformations, congenital, 1, somatic, mosaic" EXACT [OMIM:163000, OMIM:genemap2] synonym: "CMC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:163000] synonym: "familial multiple port-wine stains" EXACT [Orphanet:624] synonym: "nevi flammei, familial multiple" RELATED [OMIM:163000] synonym: "Nevus flammeus" EXACT [NCIT:C3840] synonym: "port wine birthmark" EXACT [NCIT:C3840] synonym: "port wine Nevus" EXACT [NCIT:C3840] synonym: "port wine stain" EXACT [NCIT:C3840] synonym: "port wine stain of skin" EXACT [NCIT:C3840] synonym: "port wine stain of the skin" EXACT [NCIT:C3840] synonym: "port wine type hemangioma" EXACT [NCIT:C3840] synonym: "port-wine stain" RELATED [OMIM:163000] synonym: "port-wine stain familial multiple" RELATED [GARD:0003986] synonym: "port-wine stain of skin" EXACT [NCIT:C3840] synonym: "Salmon patch Nevus" EXACT [NCIT:C3840] xref: DOID:0111529 {source="MONDO:equivalentTo"} xref: MedDRA:10067193 {source="Orphanet:624", source="Orphanet:624/e"} xref: NCIT:C3840 {source="MONDO:equivalentTo"} xref: OMIM:163000 {source="Orphanet:624", source="MONDO:equivalentTo", source="Orphanet:624/e"} xref: Orphanet:624 {source="MONDO:equivalentTo", source="OMIM:163000"} xref: SCTID:416377005 {source="MONDO:equivalentTo"} xref: UMLS:C0235752 {source="Orphanet:624", source="MONDO:equivalentTo", source="NCIT:C3840", source="OMIM:163000", source="Orphanet:624/e"} xref: UMLS:CN205384 {source="MONDO:equivalentTo"} is_a: MONDO:0016231 {source="MONDO:Redundant", source="Orphanet:624"} ! capillary malformation is_a: MONDO:0019293 {source="Orphanet:624"} ! skin vascular disease is_a: MONDO:0021658 {source="NCIT:C3840"} ! vascular ectasia relationship: has_characteristic MONDO:0021136 {source="MONDO:0015948", source="MONDO:0018728"} ! rare property_value: closeMatch http://identifiers.org/meddra/10067193 property_value: exactMatch DOID:0111529 property_value: exactMatch http://identifiers.org/snomedct/416377005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0235752 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205384 property_value: exactMatch https://omim.org/entry/163000 property_value: exactMatch NCIT:C3840 property_value: exactMatch Orphanet:624 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008097 name: linear nevus sebaceous syndrome def: "Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement)." [Orphanet:2612] subset: gard_rare subset: ordo_disease {source="Orphanet:2612"} synonym: "epidermal nevus syndrome" RELATED [OMIM:163200] synonym: "Epidermal Nevus syndrome, formerly" RELATED [OMIM:163200] synonym: "Jadassohn Nevus phakomatosis" RELATED [OMIM:163200] synonym: "Jadassohn nevus phakomatosis" RELATED [GARD:0010291] synonym: "JNP" RELATED ABBREVIATION [GARD:0010291] synonym: "linear sebaceous Nevus" EXACT [NCIT:C4678] synonym: "linear sebaceous Nevus syndrome" RELATED [OMIM:163200] synonym: "Nevus sebaceous of Jadassohn" EXACT [NCIT:C4678] synonym: "Nevus sebaceus of Jadassohn" EXACT [GARD:0010291, OMIM:163200, Orphanet:2612] synonym: "Nevus sebaceus syndrome" EXACT [Orphanet:2612] synonym: "organoid Nevus" EXACT [NCIT:C4678] synonym: "organoid Nevus phakomatosis" RELATED [OMIM:163200] synonym: "organoid nevus phakomatosis" RELATED [GARD:0010291] synonym: "organoid nevus syndrome" EXACT [Orphanet:2612] synonym: "Schimmelpenning Feuerstein Mims syndrome" RELATED [GARD:0010291] synonym: "Schimmelpenning syndrome" EXACT [Orphanet:2612] synonym: "SCHIMMELPENNING-FEUERSTEIN-MIMS syndrome" RELATED [MONDO:Lexical, OMIM:163200] synonym: "Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic" EXACT [OMIM:163200, OMIM:genemap2] synonym: "sebaceous nevus syndrome linear" RELATED [GARD:0010291] synonym: "sebaceous Nevus syndrome, linear" RELATED [OMIM:163200] synonym: "SFM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:163200] synonym: "SFM syndrome" RELATED [GARD:0010291] synonym: "Sfm syndrome" RELATED [OMIM:163200] synonym: "Solomon syndrome" EXACT [Orphanet:2612] xref: DOID:0111530 {source="MONDO:equivalentTo"} xref: NCIT:C4678 {source="MONDO:equivalentTo"} xref: OMIM:163200 {source="MONDO:equivalentTo", source="Orphanet:2612", source="Orphanet:2612/e", source="GARD:0010291"} xref: Orphanet:2612 {source="MONDO:equivalentTo", source="OMIM:163200", source="GARD:0010291"} is_a: EFO:1000110 ! Benign Conjunctival Neoplasm is_a: EFO:1000634 {source="NCIT:C4678"} ! hamartoma is_a: MONDO:0015950 {source="Orphanet:2612"} ! inherited skin tumor is_a: MONDO:0019755 ! developmental defect during embryogenesis is_a: MONDO:0020179 {source="Orphanet:2612"} ! palpebral nevus is_a: MONDO:0020205 {source="Orphanet:2612"} ! bulbar conjunctival dermoid or conjunctival dermolipoma property_value: exactMatch DOID:0111530 property_value: exactMatch https://omim.org/entry/163200 property_value: exactMatch NCIT:C4678 property_value: exactMatch Orphanet:2612 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10291/linear-nevus-sebaceous-syndrome xsd:anyURI {source="GARD:0010291"} [Term] id: MONDO:0008098 name: mesomelic dwarfism, Nievergelt type subset: ordo_malformation_syndrome {source="Orphanet:2633"} synonym: "mesomelic dwarfism Nievergelt type" RELATED [GARD:0003554] synonym: "mesomelic dysplasia, Nievergelt type" RELATED [OMIM:163400] synonym: "Nievergelt syndrome" EXACT [OMIM:163400, Orphanet:2633] synonym: "radioulnar synostosis and a typical rhomboid shape of the tibia and fibula" RELATED [GARD:0003554] xref: MESH:C536120 {source="MONDO:equivalentTo"} xref: OMIM:163400 {source="MONDO:equivalentTo", source="Orphanet:2633", source="Orphanet:2633/e"} xref: Orphanet:2633 {source="MONDO:equivalentTo", source="OMIM:163400"} xref: SCTID:33979003 {source="MONDO:equivalentTo"} xref: UMLS:C0432231 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2633", source="OMIM:163400", source="Orphanet:2633/e"} is_a: MONDO:0019697 {source="Orphanet:2633", source="PMID:31633310"} ! mesomelic and rhizo-mesomelic dysplasia property_value: exactMatch http://identifiers.org/mesh/C536120 property_value: exactMatch http://identifiers.org/snomedct/33979003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432231 property_value: exactMatch https://omim.org/entry/163400 property_value: exactMatch Orphanet:2633 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0008108 name: oculocerebrocutaneous syndrome def: "Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations." [Orphanet:1647] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1647"} synonym: "Delleman Oorthuys syndrome" RELATED [GARD:0000106] synonym: "Delleman syndrome" EXACT [Orphanet:1647] synonym: "Delleman-Oorthuys syndrome" EXACT [Orphanet:1647] synonym: "Leichtman-Wood-Rohn syndrome" EXACT [Orphanet:1647] synonym: "OCC syndrome" RELATED [GARD:0000106] synonym: "OCCS" EXACT ABBREVIATION [GARD:0000106, OMIM:164180, Orphanet:1647] synonym: "oculo-cerebro-cutaneous syndrome" RELATED [GARD:0000106] synonym: "oculocerebrocutaneous syndrome" EXACT [OMIM:164180] synonym: "orbital cyst with cerebral and focal dermal malformations" EXACT [GARD:0000106, OMIM:164180, Orphanet:1647] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538088 {source="Orphanet:1647/e", source="MONDO:equivalentTo", source="Orphanet:1647"} xref: OMIM:164180 {source="Orphanet:1647/e", source="MONDO:equivalentTo", source="GARD:0000106", source="Orphanet:1647"} xref: Orphanet:1647 {source="OMIM:164180", source="MONDO:equivalentTo", source="GARD:0000106"} xref: SCTID:403554008 {source="MONDO:equivalentTo"} xref: UMLS:C0796092 {source="OMIM:164180", source="Orphanet:1647/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="GARD:0000106", source="Orphanet:1647"} is_a: EFO:0000508 {source="GARD:0000106", source="OMIM:164180", source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: EFO:0000618 {source="GARD:0000106"} ! nervous system disease property_value: exactMatch http://identifiers.org/mesh/C538088 property_value: exactMatch http://identifiers.org/snomedct/403554008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796092 property_value: exactMatch https://omim.org/entry/164180 property_value: exactMatch Orphanet:1647 property_value: excluded_subClassOf MONDO:0015650 {source="Orphanet:1647"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/106/oculocerebrocutaneous-syndrome xsd:anyURI {source="GARD:0000106"} [Term] id: MONDO:0008111 name: oculodentodigital dysplasia def: "Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." [Orphanet:2710] subset: gard_rare {source="GARD:0007239"} subset: ordo_malformation_syndrome {source="Orphanet:2710"} synonym: "Meyer-Schwickerath syndrome" EXACT [Orphanet:2710] synonym: "oculo-dento-digital dysplasia" RELATED [GARD:0007239] synonym: "oculo-dento-digital syndrome" RELATED [GARD:0007239] synonym: "oculodentodigital dysplasia" EXACT [MONDO:Lexical, OMIM:164200] synonym: "oculodentodigital syndrome" RELATED [GARD:0007239] synonym: "oculodentoosseous dysplasia" EXACT [OMIM:164200, Orphanet:2710] synonym: "odd syndrome" EXACT [DOID:0060291, OMIM:164200] synonym: "ODDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:164200] synonym: "ODDD syndrome" EXACT [Orphanet:2710] xref: DOID:0060291 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10063691 {source="Orphanet:2710", source="Orphanet:2710/e"} xref: MESH:C563160 {source="MONDO:equivalentTo", source="DOID:0060291"} xref: OMIM:164200 {source="MONDO:equivalentTo", source="Orphanet:2710", source="DOID:0060291", source="Orphanet:2710/e"} xref: Orphanet:2710 {source="MONDO:equivalentTo", source="DOID:0060291", source="OMIM:164200"} xref: SCTID:38215007 {source="MONDO:equivalentTo", source="DOID:0060291"} is_a: EFO:0003966 ! eye disease is_a: MONDO:0015160 {source="Orphanet:2710"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0019287 {source="Orphanet:2710"} ! ectodermal dysplasia syndrome is_a: MONDO:0800084 {source="PMID:31633310"} ! primary bone dysplasia with increased bone density property_value: closeMatch http://identifiers.org/meddra/10063691 property_value: exactMatch DOID:0060291 property_value: exactMatch http://identifiers.org/mesh/C563160 property_value: exactMatch http://identifiers.org/snomedct/38215007 property_value: exactMatch https://omim.org/entry/164200 property_value: exactMatch Orphanet:2710 property_value: excluded_subClassOf MONDO:0019703 {source="Orphanet:2710"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7239/oculodentodigital-dysplasia xsd:anyURI {source="GARD:0007239"} [Term] id: MONDO:0008112 name: obsolete Goldenhar syndrome comment: Obsoleted in Orphanet. property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2358 xsd:anyURI is_obsolete: true replaced_by: MONDO:0015397 [Term] id: MONDO:0008113 name: Schilbach-Rott syndrome def: "Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males." [Orphanet:2353] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2353"} synonym: "blepharofacioskeletal syndrome" RELATED [GARD:0002930, OMIM:164220] synonym: "BRSS" EXACT ABBREVIATION [Orphanet:2353] synonym: "cleft palate, hypotelorism, and hypospadias" RELATED [OMIM:164220] synonym: "hypotelorism cleft palate hypospadias" RELATED [GARD:0002930] synonym: "hypotelorism-cleft palate-hypospadias syndrome" EXACT [Orphanet:2353] synonym: "ocular hypotelorism, submucosal cleft palate, and hypospadias" RELATED [GARD:0002930, OMIM:164220] synonym: "Schilbach-Rott syndrome" EXACT [GARD:0002930, OMIM:164220] xref: MESH:C563509 {source="MONDO:equivalentTo"} xref: OMIM:164220 {source="Orphanet:2353", source="MONDO:equivalentTo", source="Orphanet:2353/e"} xref: Orphanet:2353 {source="GARD:0002930", source="MONDO:equivalentTo", source="OMIM:164220"} xref: SCTID:721902002 {source="MONDO:equivalentTo"} is_a: MONDO:0015161 {source="Orphanet:2353"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015620 {source="Orphanet:2353"} ! syndromic urogenital tract malformation property_value: exactMatch http://identifiers.org/mesh/C563509 property_value: exactMatch http://identifiers.org/snomedct/721902002 property_value: exactMatch https://omim.org/entry/164220 property_value: exactMatch Orphanet:2353 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2930/hypotelorism-cleft-palate-hypospadias xsd:anyURI {source="GARD:0002930"} [Term] id: MONDO:0008115 name: Feingold syndrome type 1 def: "Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." [Orphanet:391641] subset: ordo_clinical_subtype {source="Orphanet:391641"} synonym: "Brunner-Winter syndrome type 1" EXACT [Orphanet:391641] synonym: "digital anomalies with short palpebral fissures and atresia of esophagus or duodenum" RELATED [OMIM:164280] synonym: "digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1" EXACT [Orphanet:391641] synonym: "digital anomalies with short palpebral fissures and atresia of oesophagus or duodenum" RELATED OMO:0003005 [] synonym: "digital anomalies with short palpebral fissures and atresia of oesophagus or duodenum type 1" EXACT OMO:0003005 [] synonym: "Feingold syndrome" RELATED [OMIM:164280] synonym: "Feingold syndrome 1" RELATED [MONDO:Lexical, OMIM:164280] synonym: "Feingold syndrome caused by mutation in MYCN" EXACT [MONDO:design_pattern] synonym: "Feingold syndrome type 1" EXACT [MONDORULE:1, OMIM:164280] synonym: "FGLDS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:164280, Orphanet:391641] synonym: "FS1" EXACT ABBREVIATION [Orphanet:391641] synonym: "microcephaly and digital abnormalities with normal intelligence" RELATED [OMIM:164280] synonym: "microcephaly, intellectual disability, and tracheoesophageal fistula syndrome" RELATED [OMIM:164280] synonym: "microcephaly, mental retardation, and tracheoesophageal fistula syndrome" RELATED DEPRECATED [OMIM:164280] synonym: "microcephaly-digital anomalies-normal intelligence syndrome type 1" EXACT [Orphanet:391641] synonym: "microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1" EXACT [Orphanet:391641] synonym: "microcephaly-oculo-digito-esophageal-duodenal syndrome" RELATED [OMIM:164280] synonym: "microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1" EXACT [Orphanet:391641] synonym: "Mmt syndrome" RELATED [OMIM:164280] synonym: "MMT type 1" EXACT [Orphanet:391641] synonym: "MODED syndrome type 1" EXACT [Orphanet:391641] synonym: "MYCN Feingold syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "oculo-digito-esophageal-duodenal syndrome type 1" EXACT [Orphanet:391641] synonym: "oculodigitoesophagoduodenal syndrome" RELATED [OMIM:164280] synonym: "Oded syndrome" RELATED [OMIM:164280] synonym: "ODED syndrome type 1" EXACT [Orphanet:391641] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:164280 {source="Orphanet:391641/e", source="MONDO:equivalentTo", source="Orphanet:391641"} xref: Orphanet:391641 {source="OMIM:164280", source="MONDO:equivalentTo"} xref: SCTID:702431004 {source="MONDO:equivalentTo"} xref: UMLS:CN204984 {source="MONDO:equivalentTo"} is_a: MONDO:0015267 {source="DC-OMIM:164280", source="MONDO:Redundant", source="OMIM:164280", source="Orphanet:391641"} ! Feingold syndrome is_a: MONDO:0800094 {source="PMID:31633310"} ! dysostosis with brachydactyly with extraskeletal manifestations property_value: exactMatch http://identifiers.org/snomedct/702431004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204984 property_value: exactMatch https://omim.org/entry/164280 property_value: exactMatch Orphanet:391641 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0008116 name: oculopharyngeal muscular dystrophy def: "Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness." [Orphanet:270] subset: gard_rare {source="GARD:0007245"} subset: ordo_disease {source="Orphanet:270"} synonym: "muscular dystrophy, oculopharyngeal" EXACT [DOID:11719, OMIM:164300] synonym: "oculopharyngeal muscular dystrophy" EXACT [MONDO:Lexical, OMIM:164300] synonym: "OPMD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:164300, Orphanet:270] xref: DOID:11719 {source="MONDO:equivalentTo"} xref: MedDRA:10052181 {source="Orphanet:270", source="Orphanet:270/e"} xref: MESH:D039141 {source="MONDO:equivalentTo", source="Orphanet:270", source="DOID:11719", source="Orphanet:270/e"} xref: NCIT:C84942 {source="MONDO:equivalentTo", source="DOID:11719"} xref: OMIM:164300 {source="MONDO:equivalentTo", source="Orphanet:270", source="DOID:11719", source="Orphanet:270/e"} xref: Orphanet:270 {source="MONDO:equivalentTo", source="OMIM:164300"} xref: SCTID:77097004 {source="MONDO:equivalentTo", source="DOID:11719"} xref: UMLS:C0270952 {source="MONDO:equivalentTo", source="Orphanet:270", source="MONDO:ncbi_mim2gene_medline", source="OMIM:164300", source="DOID:11719", source="Orphanet:270/e"} is_a: MONDO:0004746 {source="DOID:11719"} ! myopathy of extraocular muscle is_a: MONDO:0016106 {source="Orphanet:270"} ! progressive muscular dystrophy is_a: MONDO:0020158 {source="MONDO:0020169-obsoleted"} ! eyelids malposition disorder property_value: closeMatch http://identifiers.org/meddra/10052181 property_value: exactMatch DOID:11719 property_value: exactMatch http://identifiers.org/mesh/D039141 property_value: exactMatch http://identifiers.org/snomedct/77097004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270952 property_value: exactMatch https://omim.org/entry/164300 property_value: exactMatch NCIT:C84942 property_value: exactMatch Orphanet:270 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5658 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7245/oculopharyngeal-muscular-dystrophy xsd:anyURI {source="GARD:0007245"} [Term] id: MONDO:0008118 name: odontomatosis-aortae esophagus stenosis syndrome def: "Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia." [Orphanet:2724] subset: ordo_malformation_syndrome {source="Orphanet:2724"} synonym: "boder syndrome" EXACT [Orphanet:2724] synonym: "odontoma dysphagia syndrome" RELATED [GARD:0000238] synonym: "odontoma-dysphagia syndrome" RELATED [OMIM:164330] synonym: "Odontomatosis (multiple odontomas) with dysphagia" RELATED [GARD:0000238] xref: MESH:C537740 {source="MONDO:equivalentTo"} xref: OMIM:164330 {source="MONDO:equivalentTo", source="Orphanet:2724", source="Orphanet:2724/e"} xref: Orphanet:2724 {source="MONDO:equivalentTo", source="OMIM:164330"} xref: SCTID:716180009 {source="MONDO:equivalentTo"} xref: UMLS:C1834013 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2724", source="OMIM:164330", source="Orphanet:2724/e"} is_a: MONDO:0021147 {source="Orphanet:2724", source="Orphanet:2724/inferred"} ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C537740 property_value: exactMatch http://identifiers.org/snomedct/716180009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834013 property_value: exactMatch https://omim.org/entry/164330 property_value: exactMatch Orphanet:2724 [Term] id: MONDO:0008119 name: spinocerebellar ataxia type 1 def: "Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." [Orphanet:98755] subset: ordo_disease {source="Orphanet:98755"} synonym: "ATXN1 autosomal dominant cerebellar ataxia type I" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant cerebellar ataxia type I caused by mutation in ATXN1" EXACT [MONDO:design_pattern] synonym: "cerebelloparenchymal disorder 1" RELATED [OMIM:164400] synonym: "Menzel type OPCA" RELATED [OMIM:164400] synonym: "olivopontocerebellar atrophy 1" RELATED [OMIM:164400] synonym: "olivopontocerebellar atrophy 4" RELATED [OMIM:164400] synonym: "OPCA 1" RELATED [OMIM:164400] synonym: "OPCA 4" RELATED [OMIM:164400] synonym: "OPCA1" RELATED ABBREVIATION [GARD:0004071] synonym: "OPCA4" RELATED ABBREVIATION [GARD:0004071] synonym: "Sca1" EXACT [MONDO:Lexical, OMIM:164400, Orphanet:98755] synonym: "Schut-haymaker type OPCA" RELATED [OMIM:164400] synonym: "spinocerebellar ataxia 1" RELATED [MONDO:Lexical, OMIM:164400] synonym: "spinocerebellar ataxia type 1" EXACT [MONDORULE:1, OMIM:164400] synonym: "spinocerebellar atrophy 1" RELATED [OMIM:164400] xref: DOID:0050954 {source="MONDO:equivalentTo"} xref: NCIT:C129982 {source="MONDO:equivalentTo"} xref: OMIM:164400 {source="Orphanet:98755", source="MONDO:equivalentTo", source="DOID:0050954", source="Orphanet:98755/e"} xref: Orphanet:98755 {source="MONDO:equivalentTo", source="OMIM:164400"} xref: SCTID:715748006 {source="MONDO:equivalentTo"} xref: UMLS:C0752120 {source="NCIT:C129982", source="Orphanet:98755", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:98755/e", source="OMIM:164400"} is_a: MONDO:0015548 {source="Orphanet:98755"} ! Huntington disease-like syndrome is_a: MONDO:0019792 {source="MONDO:Redundant", source="Orphanet:98755"} ! autosomal dominant cerebellar ataxia type I property_value: exactMatch DOID:0050954 property_value: exactMatch http://identifiers.org/snomedct/715748006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0752120 property_value: exactMatch https://omim.org/entry/164400 property_value: exactMatch NCIT:C129982 property_value: exactMatch Orphanet:98755 [Term] id: MONDO:0008120 name: obsolete spinocerebellar ataxia type 7 property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5763 xsd:anyURI is_obsolete: true replaced_by: MONDO:0016163 [Term] id: MONDO:0008123 name: autosomal dominant omodysplasia def: "Autosomal dominant form of omodysplasia." [MONDO:patterns/autosomal_dominant] subset: ordo_clinical_subtype {source="Orphanet:93328"} synonym: "OMOD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:164745] synonym: "omodysplasia 2" RELATED [MONDO:Lexical, OMIM:164745] synonym: "omodysplasia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:164745] xref: DOID:0080845 {source="MONDO:equivalentTo"} xref: MESH:C567664 {source="MONDO:equivalentTo"} xref: OMIM:164745 {source="Orphanet:93328/e", source="MONDO:equivalentTo", source="Orphanet:93328"} xref: Orphanet:93328 {source="OMIM:164745", source="MONDO:equivalentTo"} xref: SCTID:725165009 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0017136 {source="DC-OMIM:164745", source="MONDO:Redundant", source="Orphanet:93328"} ! omodysplasia property_value: exactMatch DOID:0080845 property_value: exactMatch http://identifiers.org/mesh/C567664 property_value: exactMatch http://identifiers.org/snomedct/725165009 property_value: exactMatch https://omim.org/entry/164745 property_value: exactMatch Orphanet:93328 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0008127 name: ophthalmomandibulomelic dysplasia def: "Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms." [Orphanet:2741] subset: ordo_malformation_syndrome {source="Orphanet:2741"} synonym: "OMM syndrome" EXACT [OMIM:164900, Orphanet:2741] synonym: "Ophthalmo-mandibulo-melic dysplasia" RELATED [GARD:0004365] synonym: "ophthalmomandibulomelic dysplasia" EXACT [OMIM:164900] synonym: "Pillay syndrome" EXACT [Orphanet:2741] xref: MESH:C563501 {source="MONDO:equivalentTo"} xref: OMIM:164900 {source="Orphanet:2741", source="MONDO:equivalentTo", source="Orphanet:2741/e"} xref: Orphanet:2741 {source="OMIM:164900", source="MONDO:equivalentTo"} xref: SCTID:715484003 {source="MONDO:equivalentTo"} xref: UMLS:C1833872 {source="OMIM:164900", source="Orphanet:2741", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0000508 {source="GARD:0004365", source="OMIM:164900", source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C563501 property_value: exactMatch http://identifiers.org/snomedct/715484003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833872 property_value: exactMatch https://omim.org/entry/164900 property_value: exactMatch Orphanet:2741 property_value: excluded_subClassOf MONDO:0020215 {source="Orphanet:2741"} [Term] id: MONDO:0008130 name: ophthalmoplegia-intellectual disability-lingua scrotalis syndrome subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2743"} synonym: "Levic Stefanovic Nikolic syndrome" RELATED [GARD:0003236] synonym: "Levic-Stefanovic-Nikolic syndrome" EXACT [Orphanet:2743] synonym: "ophthalmoplegia, progressive, with scrotal tongue and mental deficiency" RELATED [OMIM:165150] synonym: "ophthalmoplegia-intellectual disability-lingua scrotalis syndrome" EXACT [GARD:0003236] xref: MESH:C563498 {source="MONDO:equivalentTo"} xref: OMIM:165150 {source="GARD:0003236", source="MONDO:equivalentTo", source="Orphanet:2743", source="Orphanet:2743/e"} xref: Orphanet:2743 {source="GARD:0003236", source="OMIM:165150", source="MONDO:equivalentTo"} xref: UMLS:C1833835 {source="OMIM:165150", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2743"} is_a: MONDO:0015159 {source="Orphanet:2743"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C563498 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833835 property_value: exactMatch https://omim.org/entry/165150 property_value: exactMatch Orphanet:2743 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2743"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3236/levic-stefanovic-nikolic-syndrome xsd:anyURI {source="GARD:0003236"} [Term] id: MONDO:0008133 name: optic atrophy 3 subset: gard_rare {source="GARD:0010203"} subset: ordo_disease {source="Orphanet:67036"} synonym: "autosomal dominant optic atrophy type 3" EXACT [Orphanet:67036] synonym: "OPA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:165300] synonym: "OPA3, autosomal dominant" EXACT [Orphanet:67036] synonym: "optic atrophy 3" EXACT [GARD:0010203] synonym: "optic atrophy 3 with cataract" RELATED [GARD:0010203] synonym: "optic atrophy 3, autosomal dominant" RELATED [MONDO:Lexical, OMIM:165300] synonym: "optic atrophy and cataract, autosomal dominant" RELATED [OMIM:165300] synonym: "optic atrophy, cataract, and neurologic disorder" RELATED [GARD:0010203] xref: DOID:0111433 {source="MONDO:equivalentTo"} xref: MESH:C537128 {source="Orphanet:67036/e", source="MONDO:equivalentTo", source="Orphanet:67036"} xref: OMIM:165300 {source="Orphanet:67036/e", source="MONDO:equivalentTo", source="Orphanet:67036"} xref: Orphanet:67036 {source="MONDO:equivalentTo", source="OMIM:165300"} xref: SCTID:719517009 {source="MONDO:equivalentTo"} xref: UMLS:C1833809 {source="Orphanet:67036/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:165300", source="Orphanet:67036"} is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0020250 {source="MONDO:Redundant", source="Orphanet:67036"} ! autosomal dominant optic atrophy property_value: exactMatch DOID:0111433 property_value: exactMatch http://identifiers.org/mesh/C537128 property_value: exactMatch http://identifiers.org/snomedct/719517009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833809 property_value: exactMatch https://omim.org/entry/165300 property_value: exactMatch Orphanet:67036 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10203/autosomal-dominant-optic-atrophy-and-cataract xsd:anyURI {source="GARD:0010203"} [Term] id: MONDO:0008134 name: autosomal dominant optic atrophy, classic form def: "One of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life, associated with optic disk pallor, visual field and color vision defects." [Orphanet:98673] subset: ordo_disease {source="Orphanet:98673"} synonym: "autosomal dominant optic atrophy, Kjer type" EXACT [Orphanet:98673] synonym: "Kjer optic atrophy" EXACT [Orphanet:98673] synonym: "Kjer-type optic atrophy" RELATED [OMIM:165500] synonym: "OAK" RELATED ABBREVIATION [GARD:0009890] synonym: "OPA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:165500] synonym: "optic atrophy 1" RELATED [MONDO:Lexical, OMIM:165500] synonym: "optic atrophy type 1" EXACT [MONDORULE:1, OMIM:165500, Orphanet:98673] synonym: "optic atrophy, juvenile" RELATED [OMIM:165500] synonym: "optic atrophy, Kjer type" RELATED [OMIM:165500] xref: DOID:0111441 {source="MONDO:equivalentTo"} xref: OMIM:165500 {source="Orphanet:98673/e", source="MONDO:equivalentTo", source="Orphanet:98673"} xref: Orphanet:98673 {source="MONDO:equivalentTo", source="OMIM:165500"} xref: SCTID:717336005 {source="MONDO:equivalentTo"} xref: UMLS:CN207069 {source="MONDO:equivalentTo"} is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0020250 {source="MONDO:Redundant", source="Orphanet:98673"} ! autosomal dominant optic atrophy property_value: exactMatch DOID:0111441 property_value: exactMatch http://identifiers.org/snomedct/717336005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207069 property_value: exactMatch https://omim.org/entry/165500 property_value: exactMatch Orphanet:98673 [Term] id: MONDO:0008135 name: optic atrophy 13 with retinal and foveal abnormalities synonym: "optic atrophy 13 with retinal and foveal abnormalities" EXACT [https://www.clinicalgenome.org/affiliation/50053/, OMIM:165510] synonym: "optic atrophy with negative Electroretinograms" EXACT [OMIM:165510] xref: MESH:C563494 {source="MONDO:equivalentTo"} xref: OMIM:165510 {source="MONDO:equivalentTo"} xref: UMLS:C1833799 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:165510"} is_a: MONDO:0043878 {source="OMIM:165510"} ! hereditary optic atrophy property_value: exactMatch http://identifiers.org/mesh/C563494 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833799 property_value: exactMatch https://omim.org/entry/165510 [Term] id: MONDO:0008136 name: isolated optic nerve hypoplasia subset: ordo_disease {source="Orphanet:137902"} synonym: "familial bilateral optic nerve hypoplasia" RELATED [GARD:0008419] synonym: "isolated optic nerve hypoplasia/aplasia" RELATED [Orphanet:137902] synonym: "optic nerve aplasia, bilateral" RELATED [OMIM:165550] synonym: "optic nerve hypoplasia" RELATED [OMIM:165550, OMIM:genemap2] synonym: "optic nerve hypoplasia, bilateral" RELATED [OMIM:165550] synonym: "optic nerve hypoplasia, familial bilateral" RELATED [GARD:0008419] xref: DOID:0111531 {source="MONDO:equivalentTo"} xref: OMIM:165550 {source="MONDO:equivalentTo", source="Orphanet:137902", source="Orphanet:137902/e"} xref: Orphanet:137902 {source="MONDO:equivalentTo", source="OMIM:165550"} xref: SCTID:724999003 {source="MONDO:equivalentTo"} xref: UMLS:C1833797 {source="MONDO:equivalentTo", source="OMIM:165550", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4510723 {source="MONDO:equivalentTo"} is_a: MONDO:0020249 {source="Orphanet:137902"} ! hereditary optic neuropathy is_a: MONDO:0800183 {source="https://clinicalgenome.org/affiliation/40077/", source="https://www.clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! PAX6-related ocular dysgenesis property_value: exactMatch DOID:0111531 property_value: exactMatch http://identifiers.org/snomedct/724999003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833797 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510723 property_value: exactMatch https://omim.org/entry/165550 property_value: exactMatch Orphanet:137902 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008137 name: orofaciodigital syndrome X def: "Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993." [Orphanet:2756] subset: gard_rare {source="GARD:0004061"} subset: ordo_malformation_syndrome {source="Orphanet:2756"} synonym: "Figuera syndrome" EXACT [Orphanet:2756] synonym: "OFD syndrome 10" RELATED [GARD:0004061] synonym: "OFD10" EXACT ABBREVIATION [DOID:0060380, MONDO:Lexical, OMIM:165590, Orphanet:2756] synonym: "Ofds 10" RELATED [OMIM:165590] synonym: "oral facial digital syndrome 10" RELATED [GARD:0004061] synonym: "oral facial digital syndrome type 10" RELATED [GARD:0004061] synonym: "oral-facial-digital syndrome 10" RELATED [GARD:0004061] synonym: "oral-facial-digital syndrome type 10" EXACT [Orphanet:2756] synonym: "oral-Facial-digital syndrome with fibular aplasia" RELATED [OMIM:165590] synonym: "oral-Facial-digital syndrome, type 10" RELATED [OMIM:165590] synonym: "orofaciodigital syndrome 10" RELATED [GARD:0004061] synonym: "orofaciodigital syndrome type 10" EXACT [MONDORULE:2, OMIM:165590] synonym: "orofaciodigital syndrome type Figuera" RELATED [GARD:0004061] synonym: "orofaciodigital syndrome type X" EXACT [DOID:0060380, MONDORULE:1] synonym: "orofaciodigital syndrome with fibular aplasia" EXACT [DOID:0060380, OMIM:165590, Orphanet:2756] synonym: "orofaciodigital syndrome X" EXACT [MONDO:Lexical, OMIM:165590] xref: DOID:0060380 {source="MONDO:equivalentTo"} xref: MESH:C563491 {source="MONDO:equivalentTo", source="DOID:0060380"} xref: OMIM:165590 {source="MONDO:equivalentTo", source="Orphanet:2756", source="DOID:0060380", source="Orphanet:2756/e"} xref: Orphanet:2756 {source="OMIM:165590", source="MONDO:equivalentTo", source="DOID:0060380"} xref: SCTID:722075004 {source="MONDO:equivalentTo"} xref: UMLS:C1833796 {source="OMIM:165590", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2756"} is_a: MONDO:0015375 {source="DC-OMIM:165590", source="DOID:0060380", source="MESH:C563491", source="Orphanet:2756"} ! orofaciodigital syndrome property_value: exactMatch DOID:0060380 property_value: exactMatch http://identifiers.org/mesh/C563491 property_value: exactMatch http://identifiers.org/snomedct/722075004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833796 property_value: exactMatch https://omim.org/entry/165590 property_value: exactMatch Orphanet:2756 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:2756"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4061/orofaciodigital-syndrome-10 xsd:anyURI {source="GARD:0004061"} [Term] id: MONDO:0008138 name: syndromic orbital border hypoplasia def: "Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct." [Orphanet:98606] subset: ordo_malformation_syndrome {source="Orphanet:98606"} synonym: "orbital margin, hypoplasia OF" RELATED [OMIM:165600] synonym: "Urrets-Zavalia syndrome" EXACT [Orphanet:98606] xref: MESH:C563490 {source="MONDO:equivalentTo"} xref: OMIM:165600 {source="MONDO:equivalentTo", source="Orphanet:98606", source="Orphanet:98606/e"} xref: Orphanet:98606 {source="MONDO:equivalentTo", source="OMIM:165600"} xref: SCTID:717337001 {source="MONDO:equivalentTo"} xref: UMLS:C1833795 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:98606", source="OMIM:165600"} xref: UMLS:C4273912 {source="MONDO:equivalentTo"} is_a: MONDO:0020195 {source="Orphanet:98606"} ! excretory apparatus of the lacrimal system anomaly property_value: exactMatch http://identifiers.org/mesh/C563490 property_value: exactMatch http://identifiers.org/snomedct/717337001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833795 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4273912 property_value: exactMatch https://omim.org/entry/165600 property_value: exactMatch Orphanet:98606 [Term] id: MONDO:0008139 name: OSLAM syndrome def: "OSLAM syndrome is characterized by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anemia." [Orphanet:2760] subset: ordo_malformation_syndrome {source="Orphanet:2760"} synonym: "OSLAM syndrome" EXACT [OMIM:165660] synonym: "osteosarcoma, limb anomalies (clinodactyly, absence of digital ray in foot, bilateral radioulnar synostosis) and macrocytosis without anaemia" RELATED OMO:0003005 [] synonym: "osteosarcoma, limb anomalies (clinodactyly, absence of digital ray in foot, bilateral radioulnar synostosis) and macrocytosis without anemia" RELATED [GARD:0004129] synonym: "osteosarcoma, limb anomalies, and erythroid macrocytosis with megaloblastic marrow" RELATED [OMIM:165660] synonym: "osteosarcoma, limb anomalies, and macrocytosis" RELATED [OMIM:165660] synonym: "osteosarcoma-limb anomalies-erythroid macrocytosis syndrome" EXACT [Orphanet:2760] xref: MESH:C537138 {source="Orphanet:2760", source="MONDO:equivalentTo", source="Orphanet:2760/e"} xref: OMIM:165660 {source="Orphanet:2760", source="MONDO:equivalentTo", source="Orphanet:2760/e"} xref: Orphanet:2760 {source="MONDO:equivalentTo", source="OMIM:165660"} xref: SCTID:733064004 {source="MONDO:equivalentTo"} xref: UMLS:C1833792 {source="Orphanet:2760", source="MONDO:equivalentTo", source="OMIM:165660", source="Orphanet:2760/e", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0003820 {source="Orphanet:2760"} ! bone neoplasm is_a: MONDO:0018454 ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation is_a: MONDO:0023603 ! hereditary disorder of connective tissue property_value: exactMatch http://identifiers.org/mesh/C537138 property_value: exactMatch http://identifiers.org/snomedct/733064004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833792 property_value: exactMatch https://omim.org/entry/165660 property_value: exactMatch Orphanet:2760 [Term] id: MONDO:0008142 name: Thiemann disease, familial form def: "Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course." [Orphanet:3314] subset: ordo_disease {source="Orphanet:3314"} synonym: "aseptic necrosis of phalangeal epiphyses" EXACT [Orphanet:3314] synonym: "osteoarthropathy of fingers familial" RELATED [GARD:0004131] synonym: "osteoarthropathy of fingers, familial" RELATED [OMIM:165700] synonym: "osteochondritis of phalangeal epiphyses" EXACT [Orphanet:3314] synonym: "Osteochondrosis of phalangeal epiphyses" EXACT [Orphanet:3314] synonym: "THIEMANN disease" RELATED [OMIM:165700] synonym: "Thiemann epiphyseal disease" RELATED [OMIM:165700] synonym: "Thiemann's disease" RELATED [GARD:0004131] xref: ICD9:716.84 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537144 {source="MONDO:equivalentTo"} xref: OMIM:165700 {source="Orphanet:3314", source="MONDO:equivalentTo", source="Orphanet:3314/e"} xref: Orphanet:3314 {source="MONDO:equivalentTo", source="OMIM:165700"} xref: SCTID:55166000 {source="MONDO:equivalentTo"} xref: UMLS:C0264081 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:165700"} is_a: MONDO:0018385 {source="Orphanet:3314", source="https://orcid.org/0000-0001-5208-3432"} ! osteochondrosis of genetic origin property_value: exactMatch http://identifiers.org/mesh/C537144 property_value: exactMatch http://identifiers.org/snomedct/55166000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264081 property_value: exactMatch https://omim.org/entry/165700 property_value: exactMatch Orphanet:3314 [Term] id: MONDO:0008145 name: Ollier disease def: "A rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones." [Orphanet:296] subset: gard_rare {source="GARD:0007251"} subset: ordo_disease {source="Orphanet:296"} synonym: "dyschondroplasia" EXACT [DOID:4624, OMIM:166000, Orphanet:296] synonym: "enchondromatosis" RELATED [GARD:0007251] synonym: "enchondromatosis with haemangiomata" EXACT [DOID:4624] synonym: "enchondromatosis, multiple" EXACT [DOID:4624] synonym: "enchondromatosis, multiple, Ollier type" RELATED [OMIM:166000] synonym: "Kast's syndrome" EXACT [DOID:4624] synonym: "multiple cartilaginous enchondroses" RELATED [GARD:0007251] synonym: "multiple enchondromatosis" RELATED [GARD:0007251] synonym: "Ollier disease" EXACT [OMIM:166000, Orphanet:296] synonym: "Ollier type enchondromatosis" EXACT [https://orcid.org/0000-0002-3302-4610] synonym: "Ollier's disease" EXACT [NCIT:C3008] synonym: "osteochondromatosis" EXACT [DOID:4624] xref: DOID:4624 {source="MONDO:equivalentTo"} xref: MedDRA:10014642 {source="Orphanet:296/e", source="Orphanet:296"} xref: NCIT:C3008 {source="MONDO:equivalentTo"} xref: NCIT:C3213 {source="DOID:4624", source="MONDO:directSiblingOf"} xref: OMIM:166000 {source="Orphanet:296/e", source="DOID:4624", source="MONDO:equivalentTo", source="Orphanet:296"} xref: Orphanet:296 {source="DOID:4624", source="MONDO:equivalentTo", source="OMIM:166000"} xref: SCTID:268274005 {source="MONDO:equivalentTo"} xref: SCTID:46041001 {source="DOID:4624", source="MONDO:directSiblingOf"} xref: UMLS:C0014084 {source="Orphanet:296/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:166000", source="Orphanet:296", source="NCIT:C3008"} xref: UMLS:C0024454 {source="DOID:4624", source="MONDO:directSiblingOf"} xref: UMLS:C0206641 {source="MONDO:equivalentTo"} xref: UMLS:CN203308 {source="MONDO:equivalentTo"} is_a: EFO:0003820 ! bone neoplasm is_a: MONDO:0023603 ! hereditary disorder of connective tissue is_a: MONDO:0800089 {source="PMID:31633310"} ! primary bone dysplasia with disorganized development of skeletal components relationship: disease_has_feature MONDO:0000631 {source="NCIT:C3008"} ! bone benign neoplasm property_value: closeMatch http://identifiers.org/meddra/10014642 property_value: exactMatch DOID:4624 property_value: exactMatch http://identifiers.org/snomedct/268274005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014084 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206641 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203308 property_value: exactMatch https://omim.org/entry/166000 property_value: exactMatch NCIT:C3008 property_value: exactMatch Orphanet:296 property_value: excluded_subClassOf MONDO:0015356 {source="Orphanet:296"} property_value: excluded_subClassOf MONDO:0019708 {source="Orphanet:296"} property_value: excluded_subClassOf MONDO:0019716 {source="Orphanet:296"} property_value: excluded_subClassOf MONDO:0019755 property_value: excluded_subClassOf MONDO:0021147 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7251/ollier-disease xsd:anyURI {source="GARD:0007251"} [Term] id: MONDO:0008146 name: osteogenesis imperfecta type 1 def: "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." [Orphanet:216796] comment: Editor note: we follow ordo and place van der hoeve as exact synonym subset: ordo_clinical_subtype {source="Orphanet:216796"} synonym: "Adair-Dighton syndrome" EXACT [Orphanet:216796] synonym: "classic non-deforming OI with blue sclerae" RELATED [GARD:0008694] synonym: "mild osteogenesis imperfecta" EXACT [Orphanet:216796] synonym: "non-deforming osteogenesis imperfecta" EXACT [Orphanet:216796] synonym: "OI type 1" EXACT [Orphanet:216796] synonym: "OI, type 1" RELATED [OMIM:166200] synonym: "OI1" EXACT ABBREVIATION [DOID:0110334] synonym: "osteogenesis imperfecta tarda" RELATED [OMIM:166200] synonym: "osteogenesis imperfecta type 1" EXACT [] synonym: "osteogenesis imperfecta type I" EXACT [DOID:0110334] synonym: "osteogenesis imperfecta with blue sclerae" RELATED [OMIM:166200] synonym: "osteogenesis imperfecta, type 1" RELATED [OMIM:166200] synonym: "osteogenesis imperfecta, type I" RELATED [OMIM:166200] synonym: "Van der Hoeve syndrome" EXACT [Orphanet:216796] xref: DOID:0110334 {source="MONDO:equivalentTo"} xref: NCIT:C99003 {source="MONDO:equivalentTo"} xref: OMIM:166200 {source="Orphanet:216796/e", source="MONDO:equivalentTo", source="DOID:0110334", source="Orphanet:216796"} xref: Orphanet:216796 {source="MONDO:equivalentTo", source="OMIM:166200", source="DOID:0110334"} xref: SCTID:385482004 {source="MONDO:equivalentTo"} xref: UMLS:CN201103 {source="MONDO:equivalentTo"} xref: UMLS:CN536249 {source="MONDO:equivalentTo"} is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. property_value: exactMatch DOID:0110334 property_value: exactMatch http://identifiers.org/snomedct/385482004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201103 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN536249 property_value: exactMatch https://omim.org/entry/166200 property_value: exactMatch NCIT:C99003 property_value: exactMatch Orphanet:216796 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0008147 name: osteogenesis imperfecta type 2 def: "Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera." [Orphanet:216804] subset: ordo_clinical_subtype {source="Orphanet:216804"} synonym: "lethal osteogenesis imperfecta" EXACT [Orphanet:216804] synonym: "OI type 2" EXACT [Orphanet:216804] synonym: "OI, type 2" RELATED [OMIM:166210] synonym: "OI2" EXACT ABBREVIATION [DOID:0110341] synonym: "osteogenesis imperfecta congenita" RELATED [OMIM:166210] synonym: "osteogenesis imperfecta congenita perinatal lethal form" RELATED [GARD:0010142] synonym: "osteogenesis imperfecta congenita, perinatal lethal form" RELATED [OMIM:166210] synonym: "osteogenesis imperfecta type 2" EXACT [] synonym: "osteogenesis imperfecta type II" EXACT [DOID:0110341] synonym: "osteogenesis imperfecta, type 2" RELATED [OMIM:166210] synonym: "osteogenesis imperfecta, type II" RELATED [OMIM:166210] synonym: "perinatal lethal osteogenesis imperfecta congenita" EXACT [DOID:0110341] synonym: "Perinatally lethal OI" RELATED [GARD:0010142] synonym: "Vrolik type of osteogenesis imperfecta" EXACT [DOID:0110341, OMIM:166210] xref: DOID:0110341 {source="MONDO:equivalentTo"} xref: MESH:C536042 {source="MONDO:equivalentTo"} xref: NCIT:C99001 {source="MONDO:equivalentTo"} xref: OMIM:166210 {source="MONDO:equivalentTo", source="Orphanet:216804", source="DOID:0110341", source="Orphanet:216804/e"} xref: Orphanet:216804 {source="MONDO:equivalentTo", source="OMIM:166210"} xref: SCTID:86470003 {source="MONDO:equivalentTo"} xref: UMLS:CN536250 {source="MONDO:equivalentTo"} is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. property_value: exactMatch DOID:0110341 property_value: exactMatch http://identifiers.org/mesh/C536042 property_value: exactMatch http://identifiers.org/snomedct/86470003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN536250 property_value: exactMatch https://omim.org/entry/166210 property_value: exactMatch NCIT:C99001 property_value: exactMatch Orphanet:216804 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0008148 name: osteogenesis imperfecta type 4 def: "Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI)." [Orphanet:216820] subset: ordo_clinical_subtype {source="Orphanet:216820"} synonym: "common variable OI with normal sclerae" RELATED [GARD:0008696] synonym: "OI type 4" EXACT [Orphanet:216820] synonym: "OI type IV" RELATED [GARD:0008696] synonym: "OI, type 4" RELATED [OMIM:166220] synonym: "OI4" EXACT ABBREVIATION [DOID:0110340, OMIM:166220] synonym: "osteogenesis imperfecta type IV" EXACT [DOID:0110340] synonym: "osteogenesis imperfecta with normal sclera" EXACT [DOID:0110340] synonym: "osteogenesis imperfecta with normal sclerae" RELATED [OMIM:166220] synonym: "osteogenesis imperfecta, type 4" RELATED [OMIM:166220] synonym: "osteogenesis imperfecta, type IV" RELATED [OMIM:166220] xref: DOID:0110340 {source="MONDO:equivalentTo"} xref: MESH:C536045 {source="Orphanet:216820", source="MONDO:equivalentTo", source="Orphanet:216820/e"} xref: NCIT:C98576 {source="MONDO:equivalentTo"} xref: OMIM:166220 {source="Orphanet:216820", source="MONDO:equivalentTo", source="Orphanet:216820/e", source="DOID:0110340"} xref: Orphanet:216820 {source="MONDO:equivalentTo", source="OMIM:166220"} xref: SCTID:205497004 {source="MONDO:equivalentTo"} xref: UMLS:C0268363 {source="Orphanet:216820", source="MONDO:equivalentTo", source="Orphanet:216820/e", source="MONDO:ncbi_mim2gene_medline", source="OMIM:166220", source="NCIT:C98576"} is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. property_value: exactMatch DOID:0110340 property_value: exactMatch http://identifiers.org/mesh/C536045 property_value: exactMatch http://identifiers.org/snomedct/205497004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268363 property_value: exactMatch https://omim.org/entry/166220 property_value: exactMatch NCIT:C98576 property_value: exactMatch Orphanet:216820 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0008150 name: osteoglophonic dwarfism def: "Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth." [Orphanet:2645] subset: ordo_malformation_syndrome {source="Orphanet:2645"} synonym: "Fairbank-Keats syndrome" RELATED [GARD:0004142] synonym: "OGD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:166250] synonym: "osteoglophonic dwarfism" EXACT [OMIM:166250] synonym: "OSTEOGLOPHONIC dysplasia" RELATED [MONDO:Lexical, OMIM:166250] synonym: "Osteoglosphonic dysplasia" RELATED [Orphanet:2645] xref: DOID:0111532 {source="MONDO:equivalentTo"} xref: MESH:C536050 {source="MONDO:equivalentTo", source="Orphanet:2645", source="Orphanet:2645/e"} xref: OMIM:166250 {source="MONDO:equivalentTo", source="Orphanet:2645", source="Orphanet:2645/e"} xref: Orphanet:2645 {source="OMIM:166250", source="MONDO:equivalentTo"} xref: SCTID:254144002 {source="MONDO:equivalentTo"} is_a: MONDO:0800089 {source="PMID:31633310"} ! primary bone dysplasia with disorganized development of skeletal components property_value: exactMatch DOID:0111532 property_value: exactMatch http://identifiers.org/mesh/C536050 property_value: exactMatch http://identifiers.org/snomedct/254144002 property_value: exactMatch https://omim.org/entry/166250 property_value: exactMatch Orphanet:2645 property_value: excluded_subClassOf MONDO:0019708 {source="Orphanet:2645"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0008151 name: gnathodiaphyseal dysplasia def: "Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission." [Orphanet:53697] subset: ordo_malformation_syndrome {source="Orphanet:53697"} synonym: "GDD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:166260, Orphanet:53697] synonym: "GNATHODIAPHYSEAL dysplasia" RELATED [OMIM:166260] synonym: "gnathodiaphyseal dysplasia" EXACT [MONDO:Lexical, OMIM:166260] synonym: "Gnathodiaphyseal sclerosis" RELATED [OMIM:166260] synonym: "Levin syndrome 2" RELATED [GARD:0008698] synonym: "osteogenesis imperfecta Levin type" RELATED [GARD:0008698] synonym: "osteogenesis imperfecta with unusual skeletal lesions" RELATED [OMIM:166260] xref: DOID:0111533 {source="MONDO:equivalentTo"} xref: MESH:C536039 {source="MONDO:equivalentTo"} xref: OMIM:166260 {source="Orphanet:53697", source="MONDO:equivalentTo", source="Orphanet:53697/e"} xref: Orphanet:53697 {source="OMIM:166260", source="MONDO:equivalentTo"} xref: SCTID:715568002 {source="MONDO:equivalentTo"} xref: UMLS:C1833736 {source="OMIM:166260", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. property_value: exactMatch DOID:0111533 property_value: exactMatch http://identifiers.org/mesh/C536039 property_value: exactMatch http://identifiers.org/snomedct/715568002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833736 property_value: exactMatch https://omim.org/entry/166260 property_value: exactMatch Orphanet:53697 property_value: excluded_subClassOf MONDO:0019704 {source="Orphanet:53697"} property_value: excluded_subClassOf MONDO:0019708 {source="Orphanet:53697"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0008152 name: multicentric carpo-tarsal osteolysis with or without nephropathy def: "Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities." [Orphanet:2774] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2774"} synonym: "Carnevale canun Mendoza syndrome" RELATED [GARD:0003818] synonym: "idiopathic multicentric osteolysis with or without nephropathy" EXACT [GARD:0003818, Orphanet:2774] synonym: "MCTO" RELATED ABBREVIATION [MONDO:Lexical, OMIM:166300] synonym: "multicentric carpo-tarsal osteolysis with or without nephropathy" EXACT [GARD:0003818, GARD:0013042] synonym: "multicentric carpotarsal osteolysis syndrome" RELATED [MONDO:Lexical, OMIM:166300] synonym: "multicentric osteolysis nephropathy" RELATED [GARD:0003818] synonym: "multicentric osteolysis, autosomal dominant" RELATED [OMIM:166300] synonym: "osteolysis, hereditary, of carpal bones with or without nephropathy" RELATED [OMIM:166300] xref: DOID:0111534 {source="MONDO:equivalentTo"} xref: MESH:C567171 {source="MONDO:equivalentTo"} xref: OMIM:166300 {source="Orphanet:2774", source="MONDO:equivalentTo", source="Orphanet:2774/e", source="GARD:0003818", source="GARD:0013042"} xref: Orphanet:2774 {source="MONDO:equivalentTo", source="OMIM:166300", source="GARD:0003818", source="GARD:0013042"} xref: SCTID:766992008 {source="MONDO:equivalentTo"} xref: UMLS:C2674705 {source="Orphanet:2774", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:166300"} is_a: MONDO:0019707 {source="Orphanet:2774", source="PMID:31633310"} ! primary osteolysis property_value: exactMatch DOID:0111534 property_value: exactMatch http://identifiers.org/mesh/C567171 property_value: exactMatch http://identifiers.org/snomedct/766992008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2674705 property_value: exactMatch https://omim.org/entry/166300 property_value: exactMatch Orphanet:2774 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3818/multicentric-osteolysis-nephropathy xsd:anyURI {source="GARD:0003818"} [Term] id: MONDO:0008153 name: progressive osseous heteroplasia def: "A rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation." [Orphanet:2762] subset: gard_rare {source="GARD:0000109"} subset: ordo_malformation_syndrome {source="Orphanet:2762"} synonym: "ectopic ossification familial type" RELATED [GARD:0000109] synonym: "ectopic ossification, familial" RELATED [OMIM:166350] synonym: "familial ectopic ossification" EXACT [Orphanet:2762] synonym: "osseous heteroplasia, progressive" RELATED [MONDO:Lexical, OMIM:166350] synonym: "osteoma cutis" RELATED [OMIM:166350] synonym: "poh" EXACT [MONDO:Lexical, OMIM:166350, Orphanet:2762] xref: DOID:0111535 {source="MONDO:equivalentTo"} xref: MedDRA:10048902 {source="Orphanet:2762", source="Orphanet:2762/e"} xref: MESH:C562735 {source="MONDO:equivalentTo"} xref: OMIM:166350 {source="Orphanet:2762", source="MONDO:equivalentTo", source="Orphanet:2762/e"} xref: Orphanet:2762 {source="OMIM:166350", source="MONDO:equivalentTo"} xref: SCTID:719271000 {source="MONDO:equivalentTo"} xref: UMLS:C0334041 {source="Orphanet:2762", source="OMIM:166350", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2762/e"} is_a: MONDO:0021154 {source="Orphanet:2762"} ! dermis disorder property_value: closeMatch http://identifiers.org/meddra/10048902 property_value: exactMatch DOID:0111535 property_value: exactMatch http://identifiers.org/mesh/C562735 property_value: exactMatch http://identifiers.org/snomedct/719271000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334041 property_value: exactMatch https://omim.org/entry/166350 property_value: exactMatch Orphanet:2762 property_value: excluded_subClassOf MONDO:0018231 {source="Orphanet:2762"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/109/progressive-osseous-heteroplasia xsd:anyURI {source="GARD:0000109"} [Term] id: MONDO:0008155 name: osteomesopyknosis def: "Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content." [Orphanet:2777] subset: gard_rare {source="GARD:0000391"} subset: ordo_malformation_syndrome {source="Orphanet:2777"} synonym: "axial osteosclerosis" EXACT [OMIM:166450, Orphanet:2777] synonym: "osteomesopyknosis" EXACT [OMIM:166450] xref: MESH:C537792 {source="MONDO:equivalentTo"} xref: OMIM:166450 {source="MONDO:equivalentTo", source="Orphanet:2777", source="Orphanet:2777/e"} xref: Orphanet:2777 {source="OMIM:166450", source="MONDO:equivalentTo"} xref: SCTID:254125009 {source="MONDO:equivalentTo"} xref: UMLS:C0432264 {source="OMIM:166450", source="MONDO:equivalentTo", source="Orphanet:2777", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2777/e"} is_a: MONDO:0017198 {source="Orphanet:2777"} ! osteopetrosis property_value: exactMatch http://identifiers.org/mesh/C537792 property_value: exactMatch http://identifiers.org/snomedct/254125009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432264 property_value: exactMatch https://omim.org/entry/166450 property_value: exactMatch Orphanet:2777 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/391/osteomesopyknosis xsd:anyURI {source="GARD:0000391"} [Term] id: MONDO:0008156 name: autosomal dominant osteopetrosis 2 def: "A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)." [Orphanet:53] subset: ordo_malformation_syndrome {source="Orphanet:53"} synonym: "Albers-Schonberg disease, autosomal dominant" RELATED [OMIM:166600] synonym: "Albers-Schonberg osteopetrosis" EXACT [DOID:0110938] synonym: "Albers-Schönberg osteopetrosis" EXACT [Orphanet:53] synonym: "autosomal dominant Albers-Schonberg disease" EXACT [DOID:0110938] synonym: "autosomal dominant osteopetrosis type 2" EXACT [DOID:0110938, MONDORULE:1] synonym: "autosomal dominant osteopetrosis type II" EXACT [DOID:0110938] synonym: "marble bones, autosomal dominant" RELATED [OMIM:166600] synonym: "OPTA2" EXACT ABBREVIATION [DOID:0110938, MONDO:Lexical, OMIM:166600] synonym: "osteopetrosis autosomal dominant type 2" EXACT [DOID:0110938, Orphanet:53] synonym: "osteopetrosis, autosomal dominant 2" RELATED [MONDO:Lexical, OMIM:166600] synonym: "osteopetrosis, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:166600] synonym: "osteopetrosis, autosomal dominant, type 2" RELATED [OMIM:166600] synonym: "osteosclerosis Fragilis generalisata" RELATED [OMIM:166600] xref: DOID:0110938 {source="MONDO:equivalentTo"} xref: OMIM:166600 {source="Orphanet:53", source="MONDO:equivalentTo", source="Orphanet:53/e", source="DOID:0110938"} xref: Orphanet:53 {source="MONDO:equivalentTo", source="DOID:0110938", source="OMIM:166600"} xref: SCTID:725050005 {source="MONDO:equivalentTo"} xref: UMLS:C3179239 {source="Orphanet:53", source="MONDO:equivalentTo", source="Orphanet:53/e", source="DOID:0110938", source="OMIM:166600"} is_a: MONDO:0020645 ! autosomal dominant osteopetrosis property_value: exactMatch DOID:0110938 property_value: exactMatch http://identifiers.org/snomedct/725050005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3179239 property_value: exactMatch https://omim.org/entry/166600 property_value: exactMatch Orphanet:53 property_value: excluded_subClassOf MONDO:0020244 {source="Orphanet:53"} property_value: excluded_subClassOf MONDO:0020249 {source="Orphanet:53"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0008157 name: Buschke-Ollendorff syndrome def: "Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin." [Orphanet:1306] subset: ordo_malformation_syndrome {source="Orphanet:1306"} synonym: "Bos" RELATED [MONDO:Lexical, OMIM:166700] synonym: "Buschke Ollendorff syndrome" RELATED [GARD:0001044] synonym: "Buschke-Ollendorff syndrome" EXACT [MONDO:Lexical, OMIM:166700] synonym: "dermatofibrosis lenticularis disseminata with osteopoikilosis" RELATED [OMIM:166700] synonym: "dermatofibrosis lenticularis disseminata, isolated" RELATED [OMIM:166700] synonym: "dermatofibrosis, disseminated with osteopoikilosis" RELATED [GARD:0001044] synonym: "dermatofibrosis, disseminated, with osteopoikilosis" RELATED [OMIM:166700] synonym: "Dermatoosteopoikilosis" RELATED [OMIM:166700] synonym: "disseminated dermatofibrosis with osteopoikilosis" EXACT [Orphanet:1306] synonym: "osteopathia condensans disseminata" RELATED [OMIM:166700] synonym: "osteopoikilosis with melorheostosis" RELATED [OMIM:166700] synonym: "osteopoikilosis with or without melorheostosis" EXACT [OMIM:166700, OMIM:genemap2] synonym: "osteopoikilosis, isolated" RELATED [OMIM:166700] xref: DOID:0111536 {source="MONDO:equivalentTo"} xref: MESH:C537415 {source="Orphanet:1306/e", source="MONDO:equivalentTo", source="Orphanet:1306"} xref: OMIM:166700 {source="Orphanet:1306/e", source="MONDO:equivalentTo", source="Orphanet:1306"} xref: Orphanet:1306 {source="MONDO:equivalentTo", source="OMIM:166700"} is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy is_a: MONDO:0800084 {source="PMID:31633310"} ! primary bone dysplasia with increased bone density property_value: exactMatch DOID:0111536 property_value: exactMatch http://identifiers.org/mesh/C537415 property_value: exactMatch https://omim.org/entry/166700 property_value: exactMatch Orphanet:1306 property_value: excluded_subClassOf MONDO:0017198 {source="Orphanet:1306"} property_value: excluded_subClassOf MONDO:0019292 {source="Orphanet:1306", source="Orphanet:1306/inferred"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5682 xsd:anyURI [Term] id: MONDO:0008158 name: dacryocystitis-osteopoikilosis syndrome def: "Dacryocystitis - osteopoikilosis is an exceedingly rare autosomal dominant disorder reported in only a few patients to date and is characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedr adiologically as discrete spherical osteosclerotic lesions of 2-10mm in diameter)." [Orphanet:1562] subset: ordo_malformation_syndrome {source="Orphanet:1562"} synonym: "dacryocystitis osteopoikilosis" RELATED [GARD:0000351] synonym: "Gunal Seber Basaran syndrome" RELATED [GARD:0000351] synonym: "Gunal-Seber-Basaran syndrome" EXACT [Orphanet:1562] synonym: "osteopoikilosis and dacryocystitis" RELATED [OMIM:166705] xref: MESH:C536061 {source="Orphanet:1562", source="MONDO:equivalentTo", source="Orphanet:1562/e"} xref: OMIM:166705 {source="Orphanet:1562", source="MONDO:equivalentTo", source="Orphanet:1562/e"} xref: Orphanet:1562 {source="OMIM:166705", source="MONDO:equivalentTo"} xref: SCTID:721082002 {source="MONDO:equivalentTo"} xref: UMLS:C1833698 {source="OMIM:166705", source="Orphanet:1562", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1562/e"} is_a: EFO:1000017 {source="Orphanet:1562"} ! autosomal recessive disease property_value: exactMatch http://identifiers.org/mesh/C536061 property_value: exactMatch http://identifiers.org/snomedct/721082002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833698 property_value: exactMatch https://omim.org/entry/166705 property_value: exactMatch Orphanet:1562 property_value: excluded_subClassOf MONDO:0019703 {source="Orphanet:1562"} [Term] id: MONDO:0008161 name: otodental syndrome def: "Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss." [Orphanet:2791] subset: ordo_malformation_syndrome {source="Orphanet:2791"} synonym: "chromosome 11q13 deletion syndrome" RELATED [OMIM:166750] synonym: "globodontia" EXACT [Orphanet:2791] synonym: "oculootodental syndrome" RELATED [OMIM:166750] synonym: "otodental dysplasia" EXACT [Orphanet:2791] synonym: "otodental dysplasia chromosome deletion syndrome" EXACT [OMIM:166750, OMIM:genemap2] synonym: "otodental syndrome" EXACT [OMIM:166750] synonym: "otodental syndrome with coloboma" RELATED [OMIM:166750] xref: OMIM:166750 {source="Orphanet:2791/e", source="MONDO:equivalentTo", source="Orphanet:2791"} xref: Orphanet:2791 {source="MONDO:equivalentTo", source="OMIM:166750"} xref: SCTID:707310009 {source="MONDO:equivalentTo"} xref: UMLS:C1833693 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:166750", source="Orphanet:2791"} is_a: MONDO:0016910 {source="Orphanet:2791"} ! partial deletion of the long arm of chromosome 11 is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:2791", source="Orphanet:2791/inferred"} ! disorder of development or morphogenesis property_value: exactMatch http://identifiers.org/snomedct/707310009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833693 property_value: exactMatch https://omim.org/entry/166750 property_value: exactMatch Orphanet:2791 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008162 name: otitis media, susceptibility to subset: predisposition synonym: "come/Rom" RELATED [OMIM:166760] synonym: "OMS" RELATED ABBREVIATION [OMIM:166760] synonym: "otitis Media, chronic/recurrent" RELATED [OMIM:166760] synonym: "otitis media, susceptibility to" EXACT [OMIM:166760] xref: OMIM:166760 {source="MONDO:equivalentTo"} is_a: MONDO:0020573 ! inherited disease susceptibility intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: predisposes_towards EFO:0004992 ! Otitis media relationship: predisposes_towards EFO:0004992 ! Otitis media property_value: exactMatch https://omim.org/entry/166760 [Term] id: MONDO:0008163 name: otofaciocervical syndrome def: "Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated." [Orphanet:2792] subset: ordo_malformation_syndrome {source="Orphanet:2792"} subset: prototype_pattern synonym: "Fara-Chlupackova syndrome" EXACT [Orphanet:2792] synonym: "OFC syndrome" EXACT [Orphanet:2792] xref: MESH:C563481 {source="MONDO:equivalentTo"} xref: OMIMPS:166780 {source="MONDO:equivalentTo"} xref: Orphanet:2792 {source="OMIM:166780", source="MONDO:equivalentTo"} xref: UMLS:C1833691 {source="Orphanet:2792", source="MONDO:equivalentTo"} xref: UMLS:C2931416 {source="Orphanet:2792", source="MONDO:relatedTo", source="Orphanet:2792/e"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0015334 {source="Orphanet:2792"} ! branchial arch or oral-acral syndrome relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C563481 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833691 property_value: exactMatch https://omim.org/phenotypicSeries/PS166780 property_value: exactMatch Orphanet:2792 property_value: relatedMatch http://linkedlifedata.com/resource/umls/id/C2931416 [Term] id: MONDO:0008165 name: southeast Asian ovalocytosis def: "Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones." [Orphanet:98868] subset: ordo_disease {source="Orphanet:98868"} synonym: "elliptocytosis 4" RELATED [OMIM:166900] synonym: "elliptocytosis, stomatocytic hereditary" RELATED [OMIM:166900] synonym: "he, stomatocytic" RELATED [OMIM:166900] synonym: "hereditary ovalocytosis" BROAD [Orphanet:98868] synonym: "Melanesian elliptocytosis" EXACT [Orphanet:98868] synonym: "Melanesian ovalocytosis" EXACT [Orphanet:98868] synonym: "ovalocytosis, hereditary hemolytic" RELATED [OMIM:166900] synonym: "ovalocytosis, Malaysian-Melanesian-Filipino type" RELATED [OMIM:166900] synonym: "ovalocytosis, SA type" EXACT [OMIM:166900, OMIM:genemap2] synonym: "ovalocytosis, southeast Asian" RELATED [OMIM:166900] synonym: "sao" EXACT [Orphanet:98868] synonym: "stomatocytic elliptocytosis" EXACT [Orphanet:98868] xref: ICD9:282.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: OMIM:166900 {source="MONDO:equivalentTo", source="Orphanet:98868", source="Orphanet:98868/e"} xref: Orphanet:98868 {source="MONDO:equivalentTo"} xref: SCTID:191169008 {source="MONDO:equivalentTo"} xref: UMLS:C1833690 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:166900"} xref: UMLS:C1862323 {source="MONDO:equivalentObsolete"} is_a: MONDO:0017319 ! hereditary elliptocytosis is_a: MONDO:0020102 {source="Orphanet:98868"} ! hereditary stomatocytosis property_value: exactMatch http://identifiers.org/snomedct/191169008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833690 property_value: exactMatch https://omim.org/entry/166900 property_value: exactMatch Orphanet:98868 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008170 name: ovarian cancer def: "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." [NCIT:C7431] synonym: "cancer of ovary" EXACT [MONDO:patterns/cancer, NCIT:C7431] synonym: "cancer of the ovary" EXACT [NCIT:C7431] synonym: "malignant neoplasm of ovary" EXACT [MONDO:patterns/cancer, NCIT:C7431] synonym: "malignant neoplasm of the ovary" EXACT [NCIT:C7431] synonym: "malignant ovarian neoplasm" EXACT [NCIT:C7431] synonym: "malignant ovarian tumor" EXACT [DOID:2394, NCIT:C7431] synonym: "malignant ovarian tumour" EXACT OMO:0003005 [] synonym: "malignant ovary neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of ovary" EXACT [DOID:2394, NCIT:C7431] synonym: "malignant tumor of the ovary" EXACT [NCIT:C7431] synonym: "malignant tumour of ovary" EXACT OMO:0003005 [] synonym: "malignant tumour of the ovary" EXACT OMO:0003005 [] synonym: "ovarian cancer" EXACT [NCIT:C7431, OMIM:167000] synonym: "ovarian cancer, epithelial" RELATED [OMIM:167000] synonym: "ovarian cancer, somatic" EXACT [OMIM:167000, OMIM:genemap2] synonym: "ovarian malignant tumor" EXACT [Orphanet:213500] synonym: "ovarian malignant tumour" EXACT OMO:0003005 [] synonym: "ovarian neoplasm" BROAD [DOID:2394, MTH:NOCODE] synonym: "ovary cancer" EXACT [MONDO:patterns/location] synonym: "ovary neoplasm" BROAD [DOID:2394] synonym: "primary ovarian cancer" RELATED [DOID:2394] synonym: "tumor of the ovary" BROAD [DOID:2394, NCIT:C4984] synonym: "tumour of the ovary" BROAD OMO:0003005 [] xref: DOID:2394 {source="MONDO:equivalentTo"} xref: ICD9:183.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2394"} xref: MESH:D010051 {source="MONDO:equivalentTo", source="DOID:2394"} xref: NCIT:C7431 {source="MONDO:equivalentTo", source="DOID:2394"} xref: OMIM:167000 {source="MONDO:equivalentTo", source="DOID:2394"} xref: Orphanet:213500 {source="MONDO:equivalentTo"} xref: SCTID:363443007 {source="MONDO:equivalentTo", source="DOID:2394"} is_a: EFO:0003893 {source="MONDO:Redundant", source="NCIT:C7431"} ! ovarian neoplasm is_a: EFO:1001331 {source="DOID:2394", source="MONDO:Redundant", source="NCIT:C7431"} ! Genital neoplasm, female property_value: exactMatch DOID:2394 property_value: exactMatch http://identifiers.org/mesh/D010051 property_value: exactMatch http://identifiers.org/snomedct/363443007 property_value: exactMatch https://omim.org/entry/167000 property_value: exactMatch NCIT:C7431 property_value: exactMatch Orphanet:213500 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008175 name: pacman dysplasia def: "Pacman dysplasia is characterized by epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. It is characterized radiographically by severe stippling of the lower spine and long bones, and periosteal cloaking. Patients also have short metacarpals. The syndrome may be inherited as an autosomal recessive trait. This disorder should be included in the differential diagnosis of mucolipidosis type II. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal." [Orphanet:1952] subset: gard_rare {source="GARD:0004189"} subset: ordo_malformation_syndrome {source="Orphanet:1952"} synonym: "epiphyseal stippling syndrome-osteoclastic hyperplasia syndrome" EXACT [Orphanet:1952] synonym: "epiphyseal stippling with osteoclastic hyperplasia" RELATED [OMIM:167220] synonym: "pacman dysplasia" EXACT [OMIM:167220] synonym: "Pacman syndrome" RELATED [GARD:0004189] xref: MESH:C538095 {source="MONDO:equivalentTo", source="Orphanet:1952", source="Orphanet:1952/e"} xref: OMIM:167220 {source="MONDO:equivalentTo", source="Orphanet:1952", source="Orphanet:1952/e"} xref: Orphanet:1952 {source="OMIM:167220", source="MONDO:equivalentTo"} xref: SCTID:722127006 {source="MONDO:equivalentTo"} xref: UMLS:C1833676 {source="OMIM:167220", source="MONDO:equivalentTo", source="Orphanet:1952", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1952/e"} is_a: MONDO:0019707 {source="Orphanet:1952"} ! primary osteolysis property_value: exactMatch http://identifiers.org/mesh/C538095 property_value: exactMatch http://identifiers.org/snomedct/722127006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833676 property_value: exactMatch https://omim.org/entry/167220 property_value: exactMatch Orphanet:1952 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4189/pacman-dysplasia xsd:anyURI {source="GARD:0004189"} [Term] id: MONDO:0008178 name: inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 def: "A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and shoulders and as the disorder progresses it may affect the cardiac and respiratory muscles, leading to life-threatening cardiac and pulmonary failure. Approximately half of the adults develop Paget disease of bone, and approximately one-third develop frontotemporal dementia." [NCIT:C122663] synonym: "IBMPFD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:167320] synonym: "inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1" EXACT [OMIM:167320, OMIM:genemap2] synonym: "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1" RELATED [MONDO:Lexical, OMIM:167320] synonym: "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 1" EXACT [MONDORULE:1, OMIM:167320] synonym: "lower motor neuron degeneration with Paget-like bone disease" RELATED [OMIM:167320] synonym: "multisystem proteinopathy 1" RELATED [OMIM:167320] synonym: "muscular dystrophy, limb-girdle, with Paget disease of bone" RELATED [OMIM:167320] synonym: "pagetoid amyotrophic lateral sclerosis" RELATED [OMIM:167320] xref: DOID:0111385 {source="MONDO:equivalentTo"} xref: MESH:C563476 {source="MONDO:equivalentTo"} xref: NCIT:C122663 {source="MONDO:equivalentTo"} xref: OMIM:167320 {source="MONDO:equivalentTo"} is_a: MONDO:0000507 {source="MONDO:cjm", source="Orphanet:52430"} ! inclusion body myopathy with Paget disease of bone and frontotemporal dementia property_value: exactMatch DOID:0111385 property_value: exactMatch http://identifiers.org/mesh/C563476 property_value: exactMatch https://omim.org/entry/167320 property_value: exactMatch NCIT:C122663 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008179 name: paroxysmal extreme pain disorder def: "Paroxysmal extreme pain disorder is a rare disorder of abnormal pain sensation." [Orphanet:46348] subset: gard_rare {source="GARD:0012854"} subset: ordo_disease {source="Orphanet:46348"} synonym: "familial rectal pain" EXACT [Orphanet:46348] synonym: "familial rectal syndrome" RELATED [GARD:0012854] synonym: "pain, submandibular, ocular, and rectal, with flushing" RELATED [OMIM:167400] synonym: "paroxysmal extreme pain disorder" EXACT [OMIM:167400] synonym: "PEPD" RELATED ABBREVIATION [GARD:0012854] synonym: "Pexpd" RELATED [OMIM:167400] synonym: "rectal pain, familial" RELATED [OMIM:167400] synonym: "submandibular, ocular, and rectal pain with flushing" RELATED [GARD:0012854] xref: DOID:0111537 {source="MONDO:equivalentTo"} xref: ICD9:349.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563475 {source="MONDO:equivalentTo"} xref: NCIT:C125385 {source="MONDO:equivalentTo"} xref: OMIM:167400 {source="Orphanet:46348", source="MONDO:equivalentTo", source="Orphanet:46348/e"} xref: Orphanet:46348 {source="MONDO:equivalentTo", source="OMIM:167400"} xref: SCTID:699190008 {source="MONDO:equivalentTo"} xref: UMLS:C1833661 {source="Orphanet:46348", source="NCIT:C125385", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:167400"} is_a: MONDO:0700057 {source="https://orcid.org/0000-0001-5208-3432"} ! neurological pain disorder property_value: exactMatch DOID:0111537 property_value: exactMatch http://identifiers.org/mesh/C563475 property_value: exactMatch http://identifiers.org/snomedct/699190008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833661 property_value: exactMatch https://omim.org/entry/167400 property_value: exactMatch NCIT:C125385 property_value: exactMatch Orphanet:46348 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12854/paroxysmal-extreme-pain-disorder xsd:anyURI {source="GARD:0012854"} [Term] id: MONDO:0008182 name: nasopalpebral lipoma-coloboma syndrome def: "Nasopalpebral lipoma-coloboma-telecanthus syndrome is characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus." [Orphanet:2399] subset: gard_rare {source="GARD:0003927"} subset: ordo_malformation_syndrome {source="Orphanet:2399"} synonym: "Nasopalpebral lipoma coloboma syndrome" RELATED [GARD:0003927] synonym: "NASOPALPEBRAL lipoma-coloboma syndrome" RELATED [OMIM:167730] synonym: "nasopalpebral lipoma-coloboma syndrome" EXACT [OMIM:167730] synonym: "NPLCS" RELATED ABBREVIATION [OMIM:167730] synonym: "palpebral coloboma lipoma syndrome" RELATED [GARD:0003927] synonym: "palpebral coloboma-lipoma syndrome" RELATED [OMIM:167730] xref: MESH:C538338 {source="MONDO:equivalentTo"} xref: OMIM:167730 {source="Orphanet:2399", source="MONDO:equivalentTo", source="Orphanet:2399/e"} xref: Orphanet:2399 {source="MONDO:equivalentTo", source="OMIM:167730"} xref: SCTID:723411003 {source="MONDO:equivalentTo"} xref: UMLS:C1868660 {source="Orphanet:2399", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:167730", source="Orphanet:2399/e"} is_a: MONDO:0015161 {source="Orphanet:2399"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0020157 {source="Orphanet:2399"} ! syndromic palpebral coloboma property_value: exactMatch http://identifiers.org/mesh/C538338 property_value: exactMatch http://identifiers.org/snomedct/723411003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868660 property_value: exactMatch https://omim.org/entry/167730 property_value: exactMatch Orphanet:2399 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3927/nasopalpebral-lipoma-coloboma-syndrome xsd:anyURI {source="GARD:0003927"} [Term] id: MONDO:0008183 name: annular pancreas def: "Annular pancreas is a distinct form of duodenal atresia in which the head of the pancreas forms a ring around the second portion of the duodenum." [Orphanet:675] subset: gard_rare {source="GARD:0000705"} subset: ordo_morphological_anomaly {source="Orphanet:675"} synonym: "pancreas, annular" RELATED [OMIM:167750] xref: DOID:0060850 {source="MONDO:equivalentTo"} xref: ICD10CM:Q45.1 {source="Orphanet:675", source="Orphanet:675/attributed", source="Orphanet:675/ntbt", source="DOID:0060850", source="MONDO:equivalentTo"} xref: MedDRA:10071757 {source="Orphanet:675", source="Orphanet:675/e"} xref: MESH:C536376 {source="Orphanet:675", source="DOID:0060850", source="MONDO:equivalentTo", source="Orphanet:675/e"} xref: NCIT:C98813 {source="MONDO:equivalentTo"} xref: OMIM:167750 {source="Orphanet:675", source="DOID:0060850", source="MONDO:equivalentTo", source="Orphanet:675/e"} xref: Orphanet:675 {source="DOID:0060850", source="MONDO:equivalentTo", source="OMIM:167750"} xref: SCTID:40315008 {source="MONDO:equivalentTo"} xref: UMLS:C0149955 {source="NCIT:C98813", source="Orphanet:675", source="DOID:0060850", source="MONDO:equivalentTo", source="OMIM:167750", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:675/e"} is_a: MONDO:0015213 {source="Orphanet:675"} ! non-syndromic visceral malformation property_value: closeMatch http://identifiers.org/meddra/10071757 property_value: exactMatch DOID:0060850 property_value: exactMatch http://identifiers.org/mesh/C536376 property_value: exactMatch http://identifiers.org/snomedct/40315008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149955 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q45.1 property_value: exactMatch https://omim.org/entry/167750 property_value: exactMatch NCIT:C98813 property_value: exactMatch Orphanet:675 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/705/annular-pancreas xsd:anyURI {source="GARD:0000705"} [Term] id: MONDO:0008185 name: hereditary chronic pancreatitis def: "Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." [Orphanet:676] subset: gard_rare subset: ordo_disease {source="Orphanet:676"} subset: predisposition synonym: "autosomal dominant hereditary pancreatitis" RELATED [MESH:C537262] synonym: "familial pancreatitis" RELATED [MESH:C537262] synonym: "hereditary chronic pancreatitis" EXACT [GARD:0006632, MESH:C537262, MONDO:patterns/hereditary] synonym: "hereditary pancreatitis" EXACT [NCIT:C95436] synonym: "Hp" RELATED [MESH:C537262, OMIM:167800] synonym: "HPC" RELATED ABBREVIATION [MESH:C537262, OMIM:167800] synonym: "pancreatitis, calcific" RELATED [OMIM:167800] synonym: "pancreatitis, calcific, included" RELATED [MESH:C537262] synonym: "pancreatitis, chronic" RELATED [OMIM:167800] synonym: "pancreatitis, chronic pancreatitis, chronic, susceptibility to, included" RELATED [MESH:C537262] synonym: "pancreatitis, chronic, protection against" RELATED [OMIM:167800] synonym: "pancreatitis, chronic, protection against, included" RELATED [MESH:C537262] synonym: "pancreatitis, chronic, susceptibility to" RELATED [OMIM:167800] synonym: "pancreatitis, hereditary" RELATED [MESH:C537262, MONDO:Lexical, OMIM:167800] synonym: "PCTT" RELATED ABBREVIATION [MESH:C537262, MONDO:Lexical, OMIM:167800] xref: ICD9:577.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537262 {source="MONDO:equivalentTo"} xref: NCIT:C95436 {source="MONDO:equivalentTo"} xref: OMIM:167800 {source="Orphanet:676", source="GARD:0006632", source="MONDO:equivalentTo", source="Orphanet:676/e"} xref: Orphanet:676 {source="GARD:0006632", source="MONDO:equivalentTo", source="OMIM:167800"} xref: SCTID:68072000 {source="MONDO:equivalentTo"} is_a: EFO:0000342 {source="MESH:C537262", source="MONDO:Redundant"} ! chronic pancreatitis is_a: EFO:0000508 {source="MONDO:Redundant", source="Orphanet:676/inferred"} ! genetic disorder intersection_of: EFO:0000342 ! chronic pancreatitis intersection_of: has_characteristic MONDO:0021152 ! inherited relationship: has_characteristic MONDO:0021136 {source="MONDO:0015112", source="MONDO:0015618", source="MONDO:0015967"} ! rare property_value: exactMatch http://identifiers.org/mesh/C537262 property_value: exactMatch http://identifiers.org/snomedct/68072000 property_value: exactMatch https://omim.org/entry/167800 property_value: exactMatch NCIT:C95436 property_value: exactMatch Orphanet:676 property_value: excluded_subClassOf MONDO:0005015 {source="MONDO:0015888-obsoleted", source="MONDO:Redundant", source="Orphanet:676"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5723 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6632/hereditary-pancreatitis xsd:anyURI {source="GARD:0006632"} [Term] id: MONDO:0008192 name: paragangliomas 1 def: "Any paraganglioma in which the cause of the disease is a mutation in the SDHD gene." [MONDO:patterns/disease_series_by_gene] synonym: "carotid body tumors" RELATED [OMIM:168000] synonym: "carotid body tumours" RELATED OMO:0003005 [] synonym: "chemodectomas" RELATED [OMIM:168000] synonym: "glomus jugulare tumors" RELATED [OMIM:168000] synonym: "glomus jugulare tumours" RELATED OMO:0003005 [] synonym: "glomus tumors, familial, 1" RELATED [OMIM:168000] synonym: "paraganglioma caused by mutation in SDHD" EXACT [MONDO:design_pattern] synonym: "paraganglioma, carotid body" RELATED [OMIM:168000] synonym: "paragangliomas 1" EXACT [MONDO:Lexical, OMIM:168000] synonym: "paragangliomas 1, with or without deafness" EXACT [OMIM:168000, OMIM:genemap2] synonym: "paragangliomas type 1" EXACT [MONDORULE:1, OMIM:168000] synonym: "paragangliomas with sensorineural hearing loss" RELATED [OMIM:168000] synonym: "paragangliomas, familial nonchromaffin, 1" RELATED [OMIM:168000] synonym: "paragangliomas, familial, 1" RELATED [OMIM:168000] synonym: "Paragangliomata" RELATED [OMIM:168000] synonym: "PGL1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:168000] synonym: "SDHD paraganglioma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: OMIM:168000 {source="MONDO:equivalentTo"} xref: UMLS:C0007279 {source="MONDO:relatedTo", source="OMIM:168000"} xref: UMLS:C0017671 {source="MONDO:relatedTo", source="OMIM:168000"} is_a: EFO:0003850 ! adrenal gland neoplasm is_a: EFO:1000453 {source="DC-OMIM:168000", source="MONDO:Redundant", source="OMIM:168000"} ! Paraganglioma is_a: MONDO:0017366 {source="Orphanet:29072/btnt"} ! hereditary pheochromocytoma-paraganglioma property_value: exactMatch https://omim.org/entry/168000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008195 name: paramyotonia congenita of Von Eulenburg def: "Paramyotonia congenita of Von Eulenburg is characterized by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3)." [Orphanet:684] subset: ordo_disease {source="Orphanet:684"} synonym: "Eulenburg disease" RELATED [GARD:0007325] synonym: "myotonia congenita intermittens" RELATED [GARD:0007325] synonym: "paralysis periodica Paramyotonica" RELATED [OMIM:168300] synonym: "paramyotonia congenita" EXACT [Orphanet:684] synonym: "paramyotonia congenita of VON Eulenburg" RELATED [OMIM:168300] synonym: "paramyotonia congenita of Von Eulenburg" EXACT [MONDO:Lexical, OMIM:168300] synonym: "paramyotonia congenita without cold paralysis" RELATED [OMIM:168300] synonym: "PMC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:168300] synonym: "Von Eulenburg paramyotonia congenita" RELATED [GARD:0007325] xref: DOID:0111538 {source="MONDO:equivalentTo"} xref: ICD9:359.29 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C122790 {source="MONDO:equivalentTo"} xref: OMIM:168300 {source="Orphanet:684/e", source="MONDO:equivalentTo", source="Orphanet:684"} xref: Orphanet:684 {source="MONDO:equivalentTo", source="OMIM:168300"} xref: SCTID:41574007 {source="MONDO:equivalentTo"} is_a: EFO:1001899 {source="Orphanet:684"} ! muscular channelopathy is_a: MONDO:0016120 {source="Orphanet:684"} ! myotonic syndrome property_value: exactMatch DOID:0111538 property_value: exactMatch http://identifiers.org/snomedct/41574007 property_value: exactMatch https://omim.org/entry/168300 property_value: exactMatch NCIT:C122790 property_value: exactMatch Orphanet:684 [Term] id: MONDO:0008196 name: parastremmatic dwarfism def: "Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs." [Orphanet:2646] subset: gard_rare {source="GARD:0004222"} subset: ordo_malformation_syndrome {source="Orphanet:2646"} synonym: "parastremmatic dwarfism" EXACT [OMIM:168400] synonym: "Parastremmatic dysplasia" RELATED [GARD:0004222] xref: DOID:0111539 {source="MONDO:equivalentTo"} xref: MESH:C537172 {source="MONDO:equivalentTo", source="Orphanet:2646", source="Orphanet:2646/e"} xref: OMIM:168400 {source="MONDO:equivalentTo", source="Orphanet:2646", source="Orphanet:2646/e"} xref: Orphanet:2646 {source="MONDO:equivalentTo", source="OMIM:168400"} xref: SCTID:722210007 {source="MONDO:equivalentTo"} is_a: MONDO:0018240 {source="Orphanet:2646"} ! TRPV4-related bone disorder is_a: MONDO:0019698 {source="Orphanet:2646"} ! bent bone dysplasia property_value: exactMatch DOID:0111539 property_value: exactMatch http://identifiers.org/mesh/C537172 property_value: exactMatch http://identifiers.org/snomedct/722210007 property_value: exactMatch https://omim.org/entry/168400 property_value: exactMatch Orphanet:2646 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4222/parastremmatic-dwarfism xsd:anyURI {source="GARD:0004222"} [Term] id: MONDO:0008198 name: parietal foramina with cleidocranial dysplasia def: "Parietal foramina with clavicular hypoplasia is a rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported." [Orphanet:251290] subset: ordo_malformation_syndrome {source="Orphanet:251290"} synonym: "cleidocranial dysplasia with parietal foramina" RELATED [OMIM:168550] synonym: "parietal foramina with clavicular hypoplasia" RELATED [Orphanet:251290] synonym: "parietal foramina with cleidocranial dysostosis" EXACT [Orphanet:251290] synonym: "parietal foramina with cleidocranial dysplasia" EXACT [MONDO:Lexical, OMIM:168550] synonym: "PFMCCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:168550] xref: MESH:C566825 {source="MONDO:equivalentTo"} xref: OMIM:168550 {source="Orphanet:251290/e", source="MONDO:equivalentTo", source="Orphanet:251290"} xref: Orphanet:251290 {source="OMIM:168550", source="MONDO:equivalentTo"} xref: UMLS:C1868597 {source="OMIM:168550", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:251290"} is_a: MONDO:0018230 {source="MONDO:0019709-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! skeletal dysplasia is_a: MONDO:0020018 {source="Orphanet:251290"} ! cranial malformation property_value: exactMatch http://identifiers.org/mesh/C566825 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868597 property_value: exactMatch https://omim.org/entry/168550 property_value: exactMatch Orphanet:251290 [Term] id: MONDO:0008199 name: late-onset Parkinson disease def: "A Parkinson disease that begins after around the age of 50." [https://medlineplus.gov/genetics/condition/parkinson-disease/] subset: ordo_disease {source="Orphanet:411602"} synonym: "autosomal dominant late-onset Parkinson disease" EXACT [Orphanet:411602] synonym: "hereditary late onset Parkinson disease" EXACT [] synonym: "hereditary late-onset Parkinson disease" EXACT [Orphanet:411602] synonym: "late onset Parkinson disease" EXACT [DOID:0060892] synonym: "late onset Parkinson's disease" EXACT [DOID:0060892] synonym: "late-onset Parkinson disease" EXACT [Orphanet:411602] synonym: "LOPD" EXACT ABBREVIATION [Orphanet:411602] synonym: "PARK" EXACT [OMIM:168600] synonym: "Parkinson disease, age of onset, modifier, Multifactorial" EXACT [OMIM:168600, OMIM:genemap2] synonym: "Parkinson disease, late-onset" EXACT [MONDO:Lexical, OMIM:168600] synonym: "Parkinson disease, late-onset, susceptibility to, Multifactorial" EXACT [OMIM:168600, OMIM:genemap2] synonym: "Parkinson disease, susceptibility to, Multifactorial" EXACT [OMIM:168600, OMIM:genemap2] synonym: "PD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:168600] xref: DOID:0060892 {source="MONDO:equivalentTo"} xref: OMIM:168600 {source="MONDO:equivalentTo"} xref: Orphanet:411602 {source="DOID:0060892", source="MONDO:equivalentTo"} xref: SCTID:716662004 {source="MONDO:equivalentTo"} xref: UMLS:C3160718 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:168600"} is_a: MONDO:0005180 {source="DC-OMIM:168600", source="DOID:0060892", source="MONDO:Redundant", source="OMIM:168600", source="Orphanet:411602"} ! Parkinson disease property_value: exactMatch DOID:0060892 property_value: exactMatch http://identifiers.org/snomedct/716662004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3160718 property_value: exactMatch https://omim.org/entry/168600 property_value: exactMatch Orphanet:411602 property_value: excluded_subClassOf MONDO:0015914 {source="Orphanet:411602"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3776 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008201 name: Perry syndrome def: "Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression." [Orphanet:178509] subset: gard_rare {source="GARD:0010453"} subset: ordo_disease {source="Orphanet:178509"} synonym: "Parkinsonism with alveolar hypoventilation and mental depression" EXACT [OMIM:168605, Orphanet:178509] synonym: "parkinsonism with alveolar hypoventilation and mental depression" EXACT [DOID:0060486] synonym: "Perry syndrome" EXACT [OMIM:168605] xref: DOID:0060486 {source="MONDO:equivalentTo"} xref: ICD9:348.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C566822 {source="DOID:0060486", source="MONDO:equivalentTo"} xref: OMIM:168605 {source="DOID:0060486", source="Orphanet:178509/e", source="MONDO:equivalentTo", source="Orphanet:178509"} xref: Orphanet:178509 {source="DOID:0060486", source="MONDO:equivalentTo", source="OMIM:168605"} xref: SCTID:699184009 {source="MONDO:equivalentTo"} xref: UMLS:C1868594 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:168605", source="Orphanet:178509"} is_a: MONDO:0002254 {source="DOID:0060486"} ! syndromic disease is_a: MONDO:0021095 {source="MONDO:0017661-obsoleted"} ! parkinsonian disorder property_value: exactMatch DOID:0060486 property_value: exactMatch http://identifiers.org/mesh/C566822 property_value: exactMatch http://identifiers.org/snomedct/699184009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868594 property_value: exactMatch https://omim.org/entry/168605 property_value: exactMatch Orphanet:178509 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10453/perry-syndrome xsd:anyURI {source="GARD:0010453"} [Term] id: MONDO:0008205 name: patella aplasia/hypoplasia def: "Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date." [Orphanet:86789] subset: ordo_morphological_anomaly {source="Orphanet:86789"} synonym: "absent patella" RELATED [GARD:0008709] synonym: "familial absence of the patella" RELATED [GARD:0008709] synonym: "familial aplasia of the patella (subtype)" RELATED [GARD:0008709] synonym: "patella aplasia or hypoplasia" EXACT [OMIM:168860, OMIM:genemap2] synonym: "patella aplasia-hypoplasia" RELATED [MONDO:Lexical, OMIM:168860] synonym: "PTLAH" EXACT ABBREVIATION [MONDO:Lexical, OMIM:168860, Orphanet:86789] xref: MESH:C535568 {source="MONDO:equivalentTo", source="Orphanet:86789", source="Orphanet:86789/e"} xref: OMIM:168860 {source="MONDO:equivalentTo", source="Orphanet:86789", source="Orphanet:86789/e"} xref: Orphanet:86789 {source="MONDO:equivalentTo", source="OMIM:168860"} is_a: MONDO:0015227 {source="Orphanet:86789"} ! non-syndromic limb malformation is_a: MONDO:0019712 {source="Orphanet:86789"} ! patellar dysostosis property_value: exactMatch http://identifiers.org/mesh/C535568 property_value: exactMatch https://omim.org/entry/168860 property_value: exactMatch Orphanet:86789 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008206 name: benign paroxysmal tonic upgaze of childhood with ataxia def: "Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset." [Orphanet:1179] subset: ordo_disease {source="Orphanet:1179"} synonym: "Ouvrier Billson syndrome" RELATED [GARD:0004176] synonym: "Ouvrier-Billson syndrome" EXACT [Orphanet:1179] synonym: "paroxysmal tonic upgaze, benign childhood, with ataxia" RELATED [OMIM:168885] xref: MESH:C566817 {source="MONDO:equivalentTo"} xref: OMIM:168885 {source="Orphanet:1179", source="MONDO:equivalentTo", source="Orphanet:1179/e"} xref: Orphanet:1179 {source="MONDO:equivalentTo", source="OMIM:168885"} xref: SCTID:763127004 {source="MONDO:equivalentTo"} xref: UMLS:C1868576 {source="Orphanet:1179", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:168885"} is_a: EFO:0004280 {source="MONDO:0017657-obsoleted"} ! movement disorder property_value: exactMatch http://identifiers.org/mesh/C566817 property_value: exactMatch http://identifiers.org/snomedct/763127004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868576 property_value: exactMatch https://omim.org/entry/168885 property_value: exactMatch Orphanet:1179 [Term] id: MONDO:0008207 name: chondromalacia patellae def: "Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission." [Orphanet:1428] subset: ordo_disease {source="Orphanet:1428"} synonym: "chondromalacia of patella" EXACT [DOID:13357, ICD9CM:717.7] synonym: "chondromalacia patellae" EXACT [DOID:13357] synonym: "familial chondromalacia patellae" RELATED [Orphanet:1428] synonym: "patella chondromalacia" EXACT [MONDO:patterns/location] synonym: "patella, chondromalacia OF" RELATED [OMIM:168900] synonym: "softening of articular cartilage of patella" EXACT [DOID:13357] xref: DOID:13357 {source="MONDO:equivalentTo"} xref: ICD10CM:M22.4 {source="MONDO:equivalentTo", source="Orphanet:1428", source="Orphanet:1428/attributed", source="Orphanet:1428/ntbt", source="DOID:13357"} xref: ICD9:717.7 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13357"} xref: MESH:D046789 {source="MONDO:equivalentTo", source="DOID:13357"} xref: OMIM:168900 {source="Orphanet:1428/e", source="MONDO:equivalentTo", source="Orphanet:1428", source="DOID:13357"} xref: Orphanet:1428 {source="MONDO:equivalentObsolete", source="OMIM:168900"} xref: SCTID:36071006 {source="MONDO:equivalentTo", source="DOID:13357"} xref: UMLS:C0008475 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:168900", source="DOID:13357"} is_a: MONDO:0002342 {source="DOID:13357", source="MONDO:Redundant"} ! chondromalacia is_a: MONDO:0019712 {source="Orphanet:1428"} ! patellar dysostosis property_value: exactMatch DOID:13357 property_value: exactMatch http://identifiers.org/mesh/D046789 property_value: exactMatch http://identifiers.org/snomedct/36071006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008475 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/M22.4 property_value: exactMatch https://omim.org/entry/168900 [Term] id: MONDO:0008209 name: Char syndrome def: "Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies." [Orphanet:46627] subset: gard_rare {source="GARD:0001237"} subset: ordo_malformation_syndrome {source="Orphanet:46627"} synonym: "CHAR" RELATED ABBREVIATION [OMIM:169100] synonym: "Char" RELATED [OMIM:169100] synonym: "CHAR syndrome" RELATED [OMIM:169100] synonym: "Char syndrome" EXACT [OMIM:169100] synonym: "patent ductus arteriosus with Facial Dysmorphism and abnormal fifth digits" RELATED [OMIM:169100] synonym: "patent ductus arteriosus with facial dysmorphism and abnormal fifth digits" EXACT [Orphanet:46627] xref: DOID:0060563 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C566815 {source="DOID:0060563", source="MONDO:equivalentTo"} xref: OMIM:169100 {source="DOID:0060563", source="Orphanet:46627", source="MONDO:equivalentTo", source="Orphanet:46627/e"} xref: Orphanet:46627 {source="OMIM:169100", source="MONDO:equivalentTo"} xref: SCTID:703534001 {source="MONDO:equivalentTo"} xref: UMLS:C1868570 {source="Orphanet:46627", source="OMIM:169100", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:46627/e"} is_a: MONDO:0015160 {source="Orphanet:46627"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0018758 ! familial patent arterial duct is_a: MONDO:0020158 {source="MONDO:0020169-obsoleted"} ! eyelids malposition disorder property_value: exactMatch DOID:0060563 property_value: exactMatch http://identifiers.org/mesh/C566815 property_value: exactMatch http://identifiers.org/snomedct/703534001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868570 property_value: exactMatch https://omim.org/entry/169100 property_value: exactMatch Orphanet:46627 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1237/char-syndrome xsd:anyURI {source="GARD:0001237"} [Term] id: MONDO:0008210 name: patterned macular dystrophy 1 def: "Any patterned macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "butterfly dystrophy of retinal pigment epithelium" RELATED [OMIM:169150] synonym: "butterfly-shaped pigment dystrophy of the fovea" RELATED [GARD:0009821] synonym: "butterfly-shaped pigmentary maculary dystrophy 1" EXACT [DOID:0060866] synonym: "macular dystrophy, butterfly-Shaped pigmentary" RELATED [OMIM:169150] synonym: "macular dystrophy, butterfly-shaped pigmentary" EXACT [OMIM:169150] synonym: "macular dystrophy, patterned, 1" RELATED [MONDO:Lexical, OMIM:169150] synonym: "macular dystrophy, patterned, type 1" EXACT [MONDORULE:1, OMIM:169150] synonym: "MDPT1" EXACT ABBREVIATION [DOID:0060866, MONDO:Lexical, OMIM:169150] synonym: "patterned dystrophy of retinal pigment epithelium" RELATED [OMIM:169150] synonym: "patterned macular dystrophy caused by mutation in PRPH2" EXACT [MONDO:design_pattern] synonym: "patterned macular dystrophy type 1" EXACT [DOID:0060866, MONDORULE:1] synonym: "PRPH2 patterned macular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060866 {source="MONDO:equivalentTo"} xref: OMIM:169150 {source="MONDO:equivalentTo", source="DOID:0060866"} is_a: MONDO:0020381 {source="DOID:0060866", source="MONDO:Redundant", source="OMIM:169150"} ! patterned macular dystrophy property_value: exactMatch DOID:0060866 property_value: exactMatch https://omim.org/entry/169150 [Term] id: MONDO:0008211 name: pseudoleprechaunism syndrome, Patterson type def: "Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981." [Orphanet:2976] subset: ordo_malformation_syndrome {source="Orphanet:2976"} synonym: "Patterson pseudoleprechaunism syndrome" RELATED [OMIM:169170] synonym: "Patterson syndrome" EXACT [Orphanet:2976] synonym: "Patterson's leprechaunoid syndrome" RELATED [GARD:0004259] xref: MESH:C536310 {source="MONDO:equivalentTo", source="Orphanet:2976", source="Orphanet:2976/e"} xref: OMIM:169170 {source="MONDO:equivalentTo", source="Orphanet:2976", source="Orphanet:2976/e"} xref: Orphanet:2976 {source="MONDO:equivalentTo", source="OMIM:169170"} xref: UMLS:C1868546 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2976", source="OMIM:169170", source="Orphanet:2976/e"} is_a: EFO:0005539 {source="Orphanet:2976"} ! adrenal gland disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015971"} ! rare property_value: exactMatch http://identifiers.org/mesh/C536310 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868546 property_value: exactMatch https://omim.org/entry/169170 property_value: exactMatch Orphanet:2976 [Term] id: MONDO:0008215 name: adult-onset autosomal dominant demyelinating leukodystrophy def: "Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment." [Orphanet:99027] subset: ordo_disease {source="Orphanet:99027"} synonym: "ADLD" EXACT ABBREVIATION [DOID:0060785, MONDO:Lexical, OMIM:169500, Orphanet:99027] synonym: "adult-onset autosomal dominant demyelinating leukodystrophy" EXACT [Orphanet:99027] synonym: "adult-onset autosomal dominant leukodystrophy" EXACT [DOID:0060785] synonym: "autosomal dominant adult-onset demyelinating leukodystrophy" RELATED [GARD:0010587] synonym: "autosomal dominant leukodystrophy with autonomic disease" RELATED [GARD:0010587] synonym: "autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease" EXACT [DOID:0060785] synonym: "leukodystrophy, adult-onset, autosomal dominant" EXACT [OMIM:169500, OMIM:genemap2] synonym: "leukodystrophy, demyelinating, ADULT-onset, autosomal dominant" RELATED [MONDO:Lexical, OMIM:169500] synonym: "multiple sclerosis-like disorder" RELATED [GARD:0010587] synonym: "Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type" RELATED [OMIM:169500] synonym: "Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type, formerly" RELATED [OMIM:169500] xref: DECIPHER:59 {source="MONDO:equivalentTo"} xref: DOID:0060785 {source="MONDO:equivalentTo"} xref: MESH:C566813 {source="MONDO:equivalentTo"} xref: OMIM:169500 {source="Orphanet:99027", source="DOID:0060785", source="MONDO:equivalentTo", source="Orphanet:99027/e"} xref: Orphanet:99027 {source="DOID:0060785", source="MONDO:equivalentTo", source="OMIM:169500"} xref: SCTID:448054001 {source="MONDO:equivalentTo"} is_a: MONDO:0016956 {source="Orphanet:99027"} ! partial trisomy of the long arm of chromosome 5 is_a: MONDO:0019046 {source="DOID:0060785", source="Orphanet:99027", source="https://rarediseases.org/rare-diseases/leukodystrophy/"} ! leukodystrophy is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy property_value: exactMatch DOID:0060785 property_value: exactMatch http://identifiers.org/mesh/C566813 property_value: exactMatch http://identifiers.org/snomedct/448054001 property_value: exactMatch https://omim.org/entry/169500 property_value: exactMatch Orphanet:99027 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008217 name: pelvis-shoulder dysplasia def: "Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis." [Orphanet:2839] subset: ordo_malformation_syndrome {source="Orphanet:2839"} synonym: "Kosenow syndrome" EXACT [OMIM:169550, Orphanet:2839] synonym: "pelvis-shoulder dysplasia" EXACT [OMIM:169550] synonym: "Scapuloiliac dysostosis" EXACT [OMIM:169550, Orphanet:2839] xref: MESH:C566811 {source="MONDO:equivalentTo"} xref: OMIM:169550 {source="Orphanet:2839/e", source="MONDO:equivalentTo", source="Orphanet:2839"} xref: Orphanet:2839 {source="OMIM:169550", source="MONDO:equivalentTo"} xref: SCTID:719298001 {source="MONDO:equivalentTo"} xref: UMLS:C1868508 {source="OMIM:169550", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2839"} is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect property_value: exactMatch http://identifiers.org/mesh/C566811 property_value: exactMatch http://identifiers.org/snomedct/719298001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868508 property_value: exactMatch https://omim.org/entry/169550 property_value: exactMatch Orphanet:2839 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0008218 name: Hailey-Hailey disease def: "Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva)." [Orphanet:2841] subset: gard_rare {source="GARD:0006559"} subset: ordo_disease {source="Orphanet:2841"} synonym: "BCPM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:169600] synonym: "benign chronic familial pemphigus of Hailey-Hailey" EXACT [Orphanet:2841] synonym: "benign chronic pemphigus" EXACT [DOID:0050429, MONDO:Lexical, OMIM:169600] synonym: "benign familial pemphigus" RELATED [GARD:0006559] synonym: "familial benign chronic pemphigus" RELATED [Orphanet:2841] synonym: "familial benign pemphigus" RELATED [GARD:0006559] synonym: "Hailey-Hailey disease" EXACT [OMIM:169600, Orphanet:2841] synonym: "pemphigus, benign familial" EXACT [DOID:0050429, OMIM:169600] xref: DOID:0050429 {source="MONDO:equivalentTo"} xref: MESH:D016506 {source="MONDO:equivalentTo", source="DOID:0050429"} xref: NCIT:C82865 {source="MONDO:equivalentTo", source="DOID:0050429"} xref: OMIM:169600 {source="Orphanet:2841", source="MONDO:equivalentTo", source="DOID:0050429", source="Orphanet:2841/e"} xref: Orphanet:2841 {source="MONDO:equivalentTo", source="OMIM:169600"} xref: SCTID:79468000 {source="MONDO:equivalentTo", source="DOID:0050429"} xref: UMLS:C0085106 {source="NCIT:C82865", source="Orphanet:2841", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:169600", source="DOID:0050429"} is_a: EFO:1000749 {source="DOID:0050429", source="NCIT:C82865"} ! pemphigus is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease property_value: exactMatch DOID:0050429 property_value: exactMatch http://identifiers.org/mesh/D016506 property_value: exactMatch http://identifiers.org/snomedct/79468000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085106 property_value: exactMatch https://omim.org/entry/169600 property_value: exactMatch NCIT:C82865 property_value: exactMatch Orphanet:2841 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6559/hailey-hailey-disease xsd:anyURI {source="GARD:0006559"} [Term] id: MONDO:0008221 name: prolidase deficiency def: "An inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly." [Orphanet:742] subset: ordo_disease {source="Orphanet:742"} synonym: "hyperimidodipeptiduria" EXACT [Orphanet:742] synonym: "Imidodipeptidase deficiency" RELATED [GARD:0007473] synonym: "Peptidase deficiency" RELATED [GARD:0007473] synonym: "prolidase deficiency" EXACT [OMIM:170100] xref: DOID:0111540 {source="MONDO:equivalentTo"} xref: MESH:D056732 {source="Orphanet:742", source="MONDO:equivalentTo", source="Orphanet:742/e"} xref: NCIT:C85029 {source="MONDO:equivalentTo"} xref: OMIM:170100 {source="Orphanet:742", source="MONDO:equivalentTo", source="Orphanet:742/e"} xref: Orphanet:742 {source="MONDO:equivalentTo", source="OMIM:170100"} xref: SCTID:410055005 {source="MONDO:equivalentTo"} xref: UMLS:C0268532 {source="Orphanet:742", source="NCIT:C85029", source="MONDO:equivalentTo", source="Orphanet:742/e", source="MONDO:ncbi_mim2gene_medline", source="OMIM:170100"} is_a: MONDO:0019232 {source="Orphanet:742", source="PMID:33340416"} ! inborn disorder of peptide metabolism relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: exactMatch DOID:0111540 property_value: exactMatch http://identifiers.org/mesh/D056732 property_value: exactMatch http://identifiers.org/snomedct/410055005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268532 property_value: exactMatch https://omim.org/entry/170100 property_value: exactMatch NCIT:C85029 property_value: exactMatch Orphanet:742 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:742"} property_value: excluded_subClassOf MONDO:0005093 property_value: excluded_subClassOf MONDO:0019520 {source="MONDO:Entailed", source="Orphanet:742"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5682 xsd:anyURI [Term] id: MONDO:0008222 name: Andersen-Tawil syndrome def: "Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly." [Orphanet:37553] subset: ordo_disease {source="Orphanet:37553"} synonym: "Andersen cardiodysrhythmic periodic paralysis" EXACT [DOID:0050434, Orphanet:37553] synonym: "Andersen syndrome" EXACT [DOID:0050434, OMIM:170390, Orphanet:37553] synonym: "Andersen-Tawil syndrome" EXACT [OMIM:170390, Orphanet:37553] synonym: "ATS" BROAD ABBREVIATION [DOID:0050434] synonym: "cardiodysrhythmic potassium-sensitive periodic paralysis" RELATED [Orphanet:37553] synonym: "long QT syndrome 7" EXACT [DOID:0050434, OMIM:170390] synonym: "long QT syndrome type 7" EXACT [Orphanet:37553] synonym: "LQT7" EXACT ABBREVIATION [DOID:0050434, Orphanet:37553] synonym: "periodic paralysis, Potassium-sensitive cardiodysrhythmic type" RELATED [OMIM:170390] synonym: "Potassium-sensitive cardiodysrhythmic type" EXACT [DOID:0050434] synonym: "Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features" RELATED [GARD:0009453] xref: DOID:0050434 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D050030 {source="DOID:0050434", source="MONDO:equivalentTo"} xref: NCIT:C84559 {source="DOID:0050434", source="MONDO:equivalentTo"} xref: OMIM:170390 {source="Orphanet:37553/e", source="DOID:0050434", source="MONDO:equivalentTo", source="Orphanet:37553"} xref: Orphanet:37553 {source="DOID:0050434", source="MONDO:equivalentTo", source="OMIM:170390"} xref: SCTID:422348008 {source="DOID:0050434", source="MONDO:equivalentTo"} xref: UMLS:C1563715 {source="NCIT:C84559", source="DOID:0050434", source="MONDO:equivalentTo", source="OMIM:170390", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:37553"} is_a: EFO:0005207 ! congenital heart disease is_a: EFO:1001899 {source="Orphanet:37553"} ! muscular channelopathy is_a: MONDO:0002254 ! syndromic disease is_a: MONDO:0016122 {source="Orphanet:37553"} ! periodic paralysis relationship: disease_has_feature EFO:0005307 ! torsades de pointes property_value: exactMatch DOID:0050434 property_value: exactMatch http://identifiers.org/mesh/D050030 property_value: exactMatch http://identifiers.org/snomedct/422348008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1563715 property_value: exactMatch https://omim.org/entry/170390 property_value: exactMatch NCIT:C84559 property_value: exactMatch Orphanet:37553 [Term] id: MONDO:0008223 name: hypokalemic periodic paralysis def: "Hypokalemic periodic paralysis (hypoPP) is characterized by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels." [Orphanet:681] subset: gard_rare {source="GARD:0006729"} subset: ordo_disease {source="Orphanet:681"} synonym: "familial hypokalemic periodic paralysis" EXACT [DOID:14452] synonym: "familial periodic paralysis (& [hypokalaemic])" EXACT [DOID:14452] synonym: "HKPP" EXACT ABBREVIATION [MONDO:cjm] synonym: "HOKPP" EXACT ABBREVIATION [GARD:0006729] synonym: "hypokalemic familial periodic paralysis" EXACT [DOID:14452] synonym: "hypokalemic periodic paralysis" EXACT [OMIM:170400] synonym: "HypoPP" EXACT [GARD:0006729] synonym: "periodic hypokalemic paralysis" EXACT [DOID:14452] synonym: "periodic paralysis I" NARROW [DOID:14452] synonym: "Westphall disease" EXACT [Orphanet:681] xref: DOID:14452 {source="MONDO:equivalentTo"} xref: MESH:D020514 {source="Orphanet:681/e", source="MONDO:equivalentTo", source="DOID:14452", source="Orphanet:681"} xref: NCIT:C84775 {source="MONDO:equivalentTo", source="DOID:14452"} xref: Orphanet:681 {source="MONDO:equivalentTo"} xref: SCTID:82732003 {source="MONDO:equivalentTo", source="DOID:14452"} xref: UMLS:C0238358 {source="Orphanet:681/e", source="MONDO:equivalentTo", source="DOID:14452", source="Orphanet:681", source="NCIT:C84775"} is_a: MONDO:0000995 {source="DOID:14452", source="MESH:D020514", source="Orphanet:681"} ! familial periodic paralysis is_a: MONDO:0003019 ! potassium deficiency disease disjoint_from: MONDO:0008224 ! hyperkalemic periodic paralysis property_value: exactMatch DOID:14452 property_value: exactMatch http://identifiers.org/mesh/D020514 property_value: exactMatch http://identifiers.org/snomedct/82732003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238358 property_value: exactMatch NCIT:C84775 property_value: exactMatch Orphanet:681 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6729/hypokalemic-periodic-paralysis xsd:anyURI {source="GARD:0006729"} [Term] id: MONDO:0008224 name: hyperkalemic periodic paralysis def: "Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration." [Orphanet:682] subset: gard_rare subset: ordo_disease {source="Orphanet:682"} synonym: "adynamia episodica hereditaria" EXACT [Orphanet:682] synonym: "adynamia episodica hereditaria with or without myotonia" EXACT [GARD:0000195, OMIM:170500] synonym: "familial hyperkalemic periodic paralysis" EXACT [Orphanet:682] synonym: "familial hyperkalemic periodic paralysis (disorder) [ambiguous]" EXACT [DOID:14451] synonym: "familial hyperPP" EXACT [Orphanet:682] synonym: "Gamstorp disease" EXACT [Orphanet:682] synonym: "Gamstorp episodic adynamy" EXACT [GARD:0000195, Orphanet:682] synonym: "hyperkalemic periodic paralysis" EXACT [MONDO:Lexical, OMIM:170500] synonym: "hyperkalemic periodic paralysis, type 2" EXACT [OMIM:170500, OMIM:genemap2] synonym: "hyperkalemic PP" EXACT [Orphanet:682] synonym: "hyperKPP" EXACT [Orphanet:682] synonym: "hyperPP" EXACT [Orphanet:682] synonym: "HYPP" EXACT ABBREVIATION [GARD:0000195, MONDO:Lexical, OMIM:170500, Orphanet:682] synonym: "normokalemic periodic paralysis, potassium-sensitive" EXACT [OMIM:170500] synonym: "primary hyperkalemic periodic paralysis" EXACT [Orphanet:682] synonym: "primary hyperPP" EXACT [Orphanet:682] synonym: "sodium channel muscle disease" RELATED [GARD:0000195] xref: DOID:14451 {source="MONDO:equivalentTo"} xref: MESH:D020513 {source="Orphanet:682/e", source="MONDO:equivalentTo", source="DOID:14451", source="Orphanet:682"} xref: NCIT:C123429 {source="MONDO:equivalentTo", source="DOID:14451"} xref: OMIM:170500 {source="Orphanet:682/e", source="MONDO:equivalentTo", source="DOID:14451", source="Orphanet:682", source="GARD:0000195"} xref: Orphanet:682 {source="OMIM:170500", source="MONDO:equivalentTo", source="GARD:0000195"} xref: SCTID:304737009 {source="MONDO:equivalentTo", source="DOID:14451"} xref: UMLS:C0238357 {source="NCIT:C123429", source="OMIM:170500", source="Orphanet:682/e", source="MONDO:equivalentTo", source="DOID:14451", source="Orphanet:682"} xref: UMLS:CN074266 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000995 ! familial periodic paralysis property_value: exactMatch DOID:14451 property_value: exactMatch http://identifiers.org/mesh/D020513 property_value: exactMatch http://identifiers.org/snomedct/304737009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238357 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN074266 property_value: exactMatch https://omim.org/entry/170500 property_value: exactMatch NCIT:C123429 property_value: exactMatch Orphanet:682 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008227 name: peripheral dysostosis subset: gard_rare {source="GARD:0002015"} subset: ordo_malformation_syndrome {source="Orphanet:1795"} synonym: "dysostosis peripheral" RELATED [GARD:0002015] synonym: "peripheral dysostosis" EXACT [OMIM:170700] xref: OMIM:170700 {source="Orphanet:1795", source="MONDO:equivalentTo", source="Orphanet:1795/e"} xref: Orphanet:1795 {source="OMIM:170700", source="MONDO:equivalentTo"} xref: UMLS:C0220659 {source="OMIM:170700", source="MONDO:directSiblingOf"} xref: UMLS:CN074256 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019695 {source="Orphanet:1795"} ! acromelic dysplasia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN074256 property_value: exactMatch https://omim.org/entry/170700 property_value: exactMatch Orphanet:1795 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2015/dysostosis-peripheral xsd:anyURI {source="GARD:0002015"} [Term] id: MONDO:0008234 name: multiple endocrine neoplasia type 2A def: "Multiple endocrine neoplasia 2A (MEN2A) syndrome is a form of MEN2 characterized by medullary thyroid carcinoma (MTC) in combination with pheochromocytoma and primary mild hyperparathyroidism resulting from hyperplasia or adenoma of the parathyroid cells." [Orphanet:247698] subset: gard_rare {source="GARD:0004881"} subset: ordo_clinical_subtype {source="Orphanet:247698"} synonym: "MEA type 2a" EXACT [NCIT:C3226] synonym: "MEA type II" EXACT [NCIT:C3226] synonym: "men 2A" EXACT [NCIT:C3226] synonym: "men type 2a" EXACT [NCIT:C3226] synonym: "men type II" EXACT [NCIT:C3226] synonym: "men-2A syndrome" RELATED [GARD:0004881] synonym: "MEN2A" EXACT ABBREVIATION [DOID:0050430, MONDO:Lexical, OMIM:171400, Orphanet:247698] synonym: "multiple endocrine adenomatosis type 2A" EXACT [NCIT:C3226] synonym: "multiple endocrine adenomatosis type 2a" EXACT [NCIT:C3226] synonym: "multiple endocrine adenomatosis type II" EXACT [NCIT:C3226] synonym: "multiple endocrine adenomatosis, type II" EXACT [NCIT:C3226] synonym: "multiple endocrine neoplasia II" EXACT [DOID:0050430] synonym: "multiple endocrine neoplasia IIA" EXACT [OMIM:171400, OMIM:genemap2] synonym: "multiple endocrine neoplasia type 2A" EXACT [NCIT:C3226] synonym: "multiple endocrine neoplasia type II" EXACT [NCIT:C3226] synonym: "multiple endocrine neoplasia, type 2A" RELATED [OMIM:171400] synonym: "multiple endocrine neoplasia, type II" EXACT [NCIT:C3226] synonym: "multiple endocrine neoplasia, type IIA" RELATED [MONDO:Lexical, OMIM:171400] synonym: "pheochromocytoma and amyloid producing medullary thyroid carcinoma" RELATED [GARD:0004881] synonym: "pheochromocytoma and amyloid-producing medullary thyroid carcinoma" RELATED [OMIM:171400] synonym: "ptc syndrome" EXACT [OMIM:171400, Orphanet:247698] synonym: "Sipple syndrome" EXACT [DOID:0050430, OMIM:171400, Orphanet:247698] synonym: "thyroid carcinoma, familial medullary" RELATED [OMIM:171400] xref: DOID:0050430 {source="MONDO:equivalentTo"} xref: ICD9:258.02 {source="DOID:0050430"} xref: MESH:D018813 {source="DOID:0050430", source="Orphanet:247698", source="MONDO:equivalentTo", source="Orphanet:247698/e"} xref: NCIT:C3226 {source="DOID:0050430", source="MONDO:equivalentTo"} xref: OMIM:171400 {source="DOID:0050430", source="Orphanet:247698", source="MONDO:equivalentTo", source="Orphanet:247698/e"} xref: Orphanet:247698 {source="DOID:0050430", source="OMIM:171400", source="MONDO:equivalentTo"} xref: SCTID:721188000 {source="MONDO:equivalentTo"} xref: UMLS:C0025268 {source="DOID:0050430", source="OMIM:171400", source="Orphanet:247698", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:247698/e", source="NCIT:C3226"} xref: UMLS:C1833921 {source="OMIM:171400", source="MONDO:directSiblingOf"} is_a: MONDO:0000426 {source="DOID:0050430", source="MONDO:indirect"} ! autosomal dominant disease is_a: MONDO:0019003 {source="NCIT:C3226", source="Orphanet:247698"} ! multiple endocrine neoplasia type 2 property_value: exactMatch DOID:0050430 property_value: exactMatch http://identifiers.org/mesh/D018813 property_value: exactMatch http://identifiers.org/snomedct/721188000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025268 property_value: exactMatch https://omim.org/entry/171400 property_value: exactMatch NCIT:C3226 property_value: exactMatch Orphanet:247698 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4881/multiple-endocrine-neoplasia-type-2a xsd:anyURI {source="GARD:0004881"} [Term] id: MONDO:0008237 name: phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome def: "Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterized by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families." [Orphanet:2878] subset: ordo_malformation_syndrome {source="Orphanet:2878"} synonym: "facioauriculoradial dysplasia" RELATED [OMIM:171480] synonym: "phocomelia ectrodactyly deafness sinus arrhythmia" RELATED [GARD:0004323] synonym: "phocomelia-ectrodactyly, EAR malformation, deafness, and sinus arrhythmia" RELATED [OMIM:171480] synonym: "Stoll-LC)vy-Francfort syndrome" EXACT [Orphanet:2878] synonym: "Stoll-levy-Francfort syndrome" RELATED [GARD:0004323] synonym: "Stoll-Lévy-Francfort syndrome" EXACT [Orphanet:2878] xref: MESH:C537498 {source="MONDO:equivalentTo"} xref: OMIM:171480 {source="MONDO:equivalentTo", source="Orphanet:2878", source="Orphanet:2878/e"} xref: Orphanet:2878 {source="MONDO:equivalentTo", source="OMIM:171480"} xref: UMLS:C1868390 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2878", source="OMIM:171480", source="Orphanet:2878/e"} is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation property_value: exactMatch http://identifiers.org/mesh/C537498 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868390 property_value: exactMatch https://omim.org/entry/171480 property_value: exactMatch Orphanet:2878 [Term] id: MONDO:0008244 name: piebaldism def: "Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes." [Orphanet:2884] subset: gard_rare {source="GARD:0004344"} subset: ordo_disease {source="Orphanet:2884"} synonym: "partial albinism" EXACT [DOID:3263] synonym: "PBT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:172800] synonym: "piebald trait" EXACT [DOID:3263, MONDO:Lexical, OMIM:172800] synonym: "piebaldism" EXACT [OMIM:172800] xref: DOID:3263 {source="MONDO:equivalentTo"} xref: ICD10CM:E70.3 {source="Orphanet:2884/ntbt", source="MONDO:relatedTo", source="Orphanet:2884", source="Orphanet:2884/index"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D016116 {source="Orphanet:2884", source="MONDO:equivalentTo", source="Orphanet:2884/e", source="DOID:3263"} xref: NCIT:C85009 {source="MONDO:equivalentTo", source="DOID:3263"} xref: OMIM:172800 {source="Orphanet:2884", source="MONDO:equivalentTo", source="Orphanet:2884/e", source="DOID:3263"} xref: Orphanet:2884 {source="OMIM:172800", source="MONDO:equivalentTo"} xref: SCTID:6479008 {source="MONDO:equivalentTo", source="DOID:3263"} xref: UMLS:C0080024 {source="OMIM:172800", source="NCIT:C85009", source="Orphanet:2884", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2884/e", source="DOID:3263"} is_a: EFO:0003966 ! eye disease is_a: MONDO:0000426 {source="DOID:3263", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0019290 {source="MESH:D016116/inferred", source="Orphanet:2884"} ! hypopigmentation of the skin is_a: MONDO:0021635 {source="Wikipedia:Neurocristopathy"} ! neurocristopathy is_a: MONDO:0100118 ! hereditary skin disorder relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch DOID:3263 property_value: exactMatch http://identifiers.org/mesh/D016116 property_value: exactMatch http://identifiers.org/snomedct/6479008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0080024 property_value: exactMatch https://omim.org/entry/172800 property_value: exactMatch NCIT:C85009 property_value: exactMatch Orphanet:2884 property_value: excluded_subClassOf MONDO:0020191 {source="Orphanet:2884"} property_value: excluded_subClassOf MONDO:0043209 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4344/piebaldism xsd:anyURI {source="GARD:0004344"} [Term] id: MONDO:0008245 name: piebald trait-neurologic defects syndrome def: "Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971." [Orphanet:2885] subset: ordo_malformation_syndrome {source="Orphanet:2885"} synonym: "piebald trait neurologic defects" RELATED [GARD:0005133] synonym: "piebald trait with neurologic defects" RELATED [OMIM:172850] synonym: "telfer Sugar Jaeger syndrome" RELATED [GARD:0005133] synonym: "telfer-Sugar-Jaeger syndrome" EXACT [Orphanet:2885] synonym: "White forelock and leukoderma with neurological impairment" RELATED [GARD:0005133] xref: MESH:C536955 {source="MONDO:equivalentTo"} xref: OMIM:172850 {source="Orphanet:2885", source="MONDO:equivalentTo", source="Orphanet:2885/e"} xref: Orphanet:2885 {source="MONDO:equivalentTo", source="OMIM:172850"} xref: UMLS:C1868311 {source="Orphanet:2885", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:172850"} is_a: MONDO:0019290 {source="MESH:C536955/inferred", source="Orphanet:2885"} ! hypopigmentation of the skin property_value: exactMatch http://identifiers.org/mesh/C536955 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868311 property_value: exactMatch https://omim.org/entry/172850 property_value: exactMatch Orphanet:2885 [Term] id: MONDO:0008246 name: pigmented paravenous retinochoroidal atrophy def: "Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision." [Orphanet:251295] subset: ordo_disease {source="Orphanet:251295"} synonym: "pigmented paravenous chorioretinal atrophy" RELATED [MONDO:Lexical, OMIM:172870] synonym: "PPCRA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:172870] synonym: "PPRCA" EXACT ABBREVIATION [Orphanet:251295] xref: DOID:0111541 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.5 {source="Orphanet:251295/attributed", source="Orphanet:251295/ntbt", source="Orphanet:251295", source="MONDO:directSiblingOf"} xref: MESH:C566801 {source="MONDO:equivalentTo"} xref: OMIM:172870 {source="Orphanet:251295", source="MONDO:equivalentTo", source="Orphanet:251295/e"} xref: Orphanet:251295 {source="MONDO:equivalentTo", source="OMIM:172870"} xref: SCTID:723450004 {source="MONDO:equivalentTo"} xref: UMLS:C1868310 {source="Orphanet:251295", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:172870"} is_a: MONDO:0019118 {source="Orphanet:251295"} ! inherited retinal dystrophy property_value: exactMatch DOID:0111541 property_value: exactMatch http://identifiers.org/mesh/C566801 property_value: exactMatch http://identifiers.org/snomedct/723450004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868310 property_value: exactMatch https://omim.org/entry/172870 property_value: exactMatch Orphanet:251295 [Term] id: MONDO:0008247 name: Robin sequence-oligodactyly syndrome def: "Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986." [Orphanet:3104] subset: ordo_malformation_syndrome {source="Orphanet:3104"} synonym: "Pierre Robin sequence-oligodactyly syndrome" EXACT [Orphanet:3104] synonym: "Pierre Robin syndrome and oligodactyly" RELATED [OMIM:172880] synonym: "Robin sequence and oligodactyly" RELATED [OMIM:172880] xref: MESH:C535688 {source="Orphanet:3104", source="MONDO:equivalentTo", source="Orphanet:3104/e"} xref: OMIM:172880 {source="Orphanet:3104", source="MONDO:equivalentTo", source="Orphanet:3104/e"} xref: Orphanet:3104 {source="MONDO:equivalentTo", source="OMIM:172880"} xref: UMLS:C1868309 {source="Orphanet:3104", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:172880", source="Orphanet:3104/e"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C535688 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868309 property_value: exactMatch https://omim.org/entry/172880 property_value: exactMatch Orphanet:3104 [Term] id: MONDO:0008248 name: pigmented purpuric eruption synonym: "familial pigmented purpuric eruption" RELATED [GARD:0007609] synonym: "pigmented purpura" RELATED [GARD:0007609] synonym: "pigmented purpuric dermatosis" RELATED [GARD:0007609] synonym: "pigmented purpuric eruption" EXACT [OMIM:172900] synonym: "progressive pigmented purpura" RELATED [GARD:0007609] synonym: "Schamberg disease" RELATED [GARD:0007609] synonym: "Schamberg purpura" RELATED [GARD:0007609] xref: MESH:C537186 {source="MONDO:equivalentTo"} xref: OMIM:172900 {source="MONDO:equivalentTo"} xref: SCTID:20343006 {source="MONDO:equivalentTo"} xref: UMLS:C0406515 {source="OMIM:172900", source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C537186 property_value: exactMatch http://identifiers.org/snomedct/20343006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406515 property_value: exactMatch https://omim.org/entry/172900 [Term] id: MONDO:0008250 name: isolated growth hormone deficiency type II subset: gard_rare {source="GARD:0001696"} subset: ordo_clinical_subtype {source="Orphanet:231679"} synonym: "autosomal dominant isolated growth hormone deficiency" EXACT [DOID:0060872] synonym: "autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency" EXACT [DOID:0060872] synonym: "congenital IGHD type II" EXACT [DOID:0060872, Orphanet:231679] synonym: "congenital isolated GH deficiency type II" EXACT [DOID:0060872, Orphanet:231679] synonym: "congenital isolated growth hormone deficiency type II" EXACT [DOID:0060872, Orphanet:231679] synonym: "Growth hormone deficiency, isolated autosomal dominant" RELATED [GARD:0001696] synonym: "Growth hormone deficiency, isolated, autosomal dominant" RELATED [OMIM:173100] synonym: "growth hormone deficiency, isolated, type II" EXACT [OMIM:173100, OMIM:genemap2] synonym: "IGHD 2" RELATED [OMIM:173100] synonym: "IGHD II" EXACT [DOID:0060872] synonym: "IGHD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:173100] synonym: "isolated growth hormone deficiency type 2" RELATED [GARD:0001696] synonym: "isolated Growth hormone deficiency, type 2" RELATED [OMIM:173100] synonym: "isolated growth hormone deficiency, type II" RELATED [MONDO:Lexical, OMIM:173100] synonym: "pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant" RELATED [GARD:0001696] synonym: "pituitary dwarfism due to isolated Growth hormone deficiency, autosomal dominant" RELATED [OMIM:173100] xref: DOID:0060872 {source="MONDO:equivalentTo"} xref: MESH:C562704 {source="MONDO:equivalentTo"} xref: OMIM:173100 {source="Orphanet:231679/e", source="DOID:0060872", source="MONDO:equivalentTo", source="Orphanet:231679"} xref: Orphanet:231679 {source="DOID:0060872", source="MONDO:equivalentTo", source="OMIM:173100"} xref: SCTID:237687003 {source="MONDO:equivalentTo"} xref: UMLS:C0271567 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:173100", source="Orphanet:231679"} is_a: MONDO:0000050 {source="DC-OMIM:173100", source="DOID:0060872", source="Orphanet:231679"} ! isolated congenital growth hormone deficiency property_value: exactMatch DOID:0060872 property_value: exactMatch http://identifiers.org/mesh/C562704 property_value: exactMatch http://identifiers.org/snomedct/237687003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271567 property_value: exactMatch https://omim.org/entry/173100 property_value: exactMatch Orphanet:231679 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1696/isolated-growth-hormone-deficiency-type-2 xsd:anyURI {source="GARD:0001696"} [Term] id: MONDO:0008251 name: familial pityriasis rubra pilaris def: "A rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists." [Orphanet:2897] subset: ordo_disease {source="Orphanet:2897"} synonym: "Devergie's disease" EXACT [DOID:9212] synonym: "hereditary pityriasis rubra pilaris" EXACT [MONDO:patterns/hereditary] synonym: "pityriasis rubra pilaris" BROAD [MONDO:Lexical, OMIM:173200] synonym: "pityriasis rubra pilaris--familial type" EXACT [MESH:C531784] synonym: "PRP" EXACT ABBREVIATION [MONDO:Lexical, OMIM:173200] xref: ICD9:696.4 {source="MONDO:i2s", source="DOID:9212"} xref: MedDRA:10035116 {source="Orphanet:2897", source="Orphanet:2897/e"} xref: MESH:C531784 {source="MONDO:equivalentTo"} xref: OMIM:173200 {source="MONDO:equivalentTo", source="Orphanet:2897", source="DOID:9212", source="Orphanet:2897/e"} xref: Orphanet:2897 {source="MONDO:equivalentTo", source="OMIM:173200"} xref: UMLS:C2930842 {source="MONDO:equivalentTo"} is_a: MONDO:0100017 {source="GARD:0007401"} ! pityriasis rubra pilaris property_value: closeMatch http://identifiers.org/meddra/10035116 property_value: exactMatch http://identifiers.org/mesh/C531784 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930842 property_value: exactMatch https://omim.org/entry/173200 property_value: exactMatch Orphanet:2897 property_value: excluded_subClassOf MONDO:0005083 {source="DOID:9212"} property_value: excluded_subClassOf MONDO:0006547 {source="MONDO:cjm"} property_value: excluded_subClassOf MONDO:0019270 {source="Orphanet:2897"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3470 xsd:anyURI [Term] id: MONDO:0008259 name: familial spontaneous pneumothorax def: "Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated." [Orphanet:2903] subset: ordo_disease {source="Orphanet:2903"} synonym: "pneumothorax, primary spontaneous" RELATED [OMIM:173600] synonym: "primary spontaneous pneumothorax" RELATED [DOID:0080218, GARD:0004997] synonym: "Psp" RELATED [OMIM:173600] synonym: "spontaneous pneumothorax" RELATED [GARD:0004997] xref: DOID:0080218 {source="MONDO:equivalentTo"} xref: MESH:C566795 {source="MONDO:equivalentTo"} xref: OMIM:173600 {source="Orphanet:2903/e", source="MONDO:equivalentTo", source="DOID:0080218", source="Orphanet:2903"} xref: Orphanet:2903 {source="OMIM:173600", source="MONDO:equivalentTo"} xref: SCTID:715219001 {source="MONDO:equivalentTo"} xref: UMLS:C1868193 {source="OMIM:173600", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4275252 {source="MONDO:equivalentTo"} is_a: MONDO:0002076 {source="DOID:0080218", source="MESH:C566795"} ! pneumothorax relationship: has_characteristic MONDO:0021136 {source="MONDO:0015510"} ! rare property_value: exactMatch DOID:0080218 property_value: exactMatch http://identifiers.org/mesh/C566795 property_value: exactMatch http://identifiers.org/snomedct/715219001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868193 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275252 property_value: exactMatch https://omim.org/entry/173600 property_value: exactMatch Orphanet:2903 [Term] id: MONDO:0008260 name: Kindler syndrome def: "Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes." [Orphanet:2908] subset: ordo_clinical_subtype {source="Orphanet:2908"} synonym: "bullous acrokeratotic poikiloderma of Kindler and Weary" RELATED [OMIM:173650] synonym: "congenital bullous poikiloderma" RELATED [GARD:0004391] synonym: "KINDLER syndrome" RELATED [OMIM:173650] synonym: "Kindler syndrome" EXACT [OMIM:173650] synonym: "KNDLRS" RELATED ABBREVIATION [OMIM:173650] synonym: "KS" EXACT ABBREVIATION [Orphanet:2908] synonym: "poikiloderma of Kindler" EXACT [DOID:0060472, Orphanet:2908] synonym: "poikiloderma, congenital, with bullae, Weary type" RELATED [OMIM:173650] synonym: "poikiloderma, hereditary acrokeratotic" RELATED [OMIM:173650] xref: DOID:0060472 {source="MONDO:equivalentTo"} xref: MESH:C536321 {source="Orphanet:2908", source="DOID:0060472", source="MONDO:equivalentTo", source="Orphanet:2908/e"} xref: OMIM:173650 {source="MONDO:equivalentTo"} xref: Orphanet:2908 {source="MONDO:equivalentTo"} xref: SCTID:238836000 {source="MONDO:equivalentTo"} is_a: MONDO:0019276 {source="Orphanet:2908"} ! inherited epidermolysis bullosa property_value: exactMatch DOID:0060472 property_value: exactMatch http://identifiers.org/mesh/C536321 property_value: exactMatch http://identifiers.org/snomedct/238836000 property_value: exactMatch https://omim.org/entry/173650 property_value: exactMatch Orphanet:2908 [Term] id: MONDO:0008261 name: hereditary sclerosing poikiloderma, Weary type subset: ordo_disease {source="Orphanet:221039"} synonym: "poikiloderma, hereditary sclerosing" RELATED [OMIM:173700] xref: MESH:C562824 {source="MONDO:equivalentTo"} xref: OMIM:173700 {source="MONDO:equivalentTo", source="Orphanet:221039", source="Orphanet:221039/e"} xref: Orphanet:221039 {source="OMIM:173700", source="MONDO:equivalentTo"} is_a: MONDO:0016382 {source="Orphanet:221039"} ! hereditary poikiloderma property_value: exactMatch http://identifiers.org/mesh/C562824 property_value: exactMatch https://omim.org/entry/173700 property_value: exactMatch Orphanet:221039 [Term] id: MONDO:0008262 name: Poland syndrome def: "Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly." [Orphanet:2911] subset: gard_rare {source="GARD:0007412"} subset: ordo_malformation_syndrome {source="Orphanet:2911"} synonym: "pectoralis muscle, absence of" RELATED [OMIM:173800] synonym: "Poland anomaly" EXACT [Orphanet:2911] synonym: "Poland sequence" EXACT [OMIM:173800, Orphanet:2911] synonym: "Poland syndactyly" RELATED [OMIM:173800] synonym: "Poland syndrome" EXACT [OMIM:173800] synonym: "Poland's syndactyly" EXACT [DOID:12961] synonym: "Poland's syndrome" RELATED [GARD:0007412] synonym: "unilateral defect of pectoralis muscle and syndactyly of the hand" RELATED [GARD:0007412] xref: DOID:12961 {source="MONDO:equivalentTo"} xref: ICD9:756.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10036007 {source="Orphanet:2911", source="Orphanet:2911/e"} xref: MESH:D011045 {source="MONDO:equivalentTo", source="Orphanet:2911", source="Orphanet:2911/e", source="DOID:12961"} xref: NCIT:C85017 {source="MONDO:equivalentTo", source="DOID:12961"} xref: OMIM:173800 {source="MONDO:equivalentTo", source="Orphanet:2911", source="Orphanet:2911/e", source="DOID:12961"} xref: Orphanet:2911 {source="OMIM:173800", source="MONDO:equivalentTo"} xref: SCTID:38371006 {source="MONDO:equivalentTo", source="DOID:12961"} xref: UMLS:C0032357 {source="OMIM:173800", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2911", source="NCIT:C85017", source="Orphanet:2911/e", source="DOID:12961"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C85017"} ! syndromic disease is_a: MONDO:0015856 {source="Orphanet:2911"} ! syndromic breast hypoplasia/aplasia is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect property_value: closeMatch http://identifiers.org/meddra/10036007 property_value: exactMatch DOID:12961 property_value: exactMatch http://identifiers.org/mesh/D011045 property_value: exactMatch http://identifiers.org/snomedct/38371006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032357 property_value: exactMatch https://omim.org/entry/173800 property_value: exactMatch NCIT:C85017 property_value: exactMatch Orphanet:2911 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7412/poland-syndrome xsd:anyURI {source="GARD:0007412"} [Term] id: MONDO:0008264 name: autosomal dominant medullary cystic kidney disease with or without hyperuricemia def: "A genetic kidney disease that causes progressive loss of kidney function caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), or mucin-1 (MUC1)." [GARD:0010801, PMID:25738250] subset: gard_rare subset: ordo_disease {source="Orphanet:34149"} synonym: "ADTKD" EXACT ABBREVIATION [Orphanet:34149] synonym: "autosomal dominant interstitial kidney disease" EXACT [NCIT:C123171] synonym: "autosomal dominant medullary cystic kidney disease" EXACT [Orphanet:34149] synonym: "autosomal dominant medullary cystic kidney disease with or without hyperuricemia" EXACT [GARD:0010801] synonym: "autosomal dominant tubulointerstitial kidney disease" RELATED [Orphanet:34149] synonym: "MCKD" RELATED ABBREVIATION [GARD:0010801, OMIM:174000] synonym: "medullary cystic disease" RELATED [GARD:0010801] synonym: "medullary cystic kidney disease" RELATED [GARD:0010801] synonym: "polycystic kidneys, medullary type" RELATED [OMIM:174000] xref: EFO:0008617 {source="MONDO:equivalentTo"} xref: MEDGEN:358137 {source="UMLS:C1868139"} xref: MEDGEN:881357 {source="UMLS:C4054549"} xref: MESH:C536137 {source="MONDO:equivalentTo"} xref: Orphanet:34149 {source="MONDO:equivalentTo", source="OMIM:174000", source="GARD:0010801"} xref: SCTID:444699000 {source="MONDO:equivalentTo"} xref: UMLS:C4054549 {source="NCIT:C123171", source="MONDO:equivalentTo"} xref: UMLS:C4511620 {source="MONDO:equivalentTo"} xref: UMLS:CN204412 {source="MONDO:equivalentTo"} xref: UMLS:CN536252 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0019741 {source="Orphanet:34149"} ! familial cystic renal disease property_value: closeMatch http://identifiers.org/medgen/358137 property_value: closeMatch http://identifiers.org/medgen/881357 property_value: exactMatch http://identifiers.org/mesh/C536137 property_value: exactMatch http://identifiers.org/snomedct/444699000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4054549 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4511620 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204412 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN536252 property_value: exactMatch Orphanet:34149 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10801/medullary-cystic-kidney-disease xsd:anyURI {source="GARD:0010801"} [Term] id: MONDO:0008265 name: polycystic liver disease 1 def: "A polycystic liver disease in which the cause of the disease is a mutation in the PRKCSH gene, and is characterized by the appearance of numerous cysts spread throughout the liver." [Orphanet:2924] subset: ordo_malformation_syndrome {source="Orphanet:2924"} synonym: "ADPCLD" RELATED ABBREVIATION [Orphanet:2924] synonym: "autosomal dominant polycystic liver disease" RELATED [Orphanet:2924] synonym: "isolated autosomal dominant polycystic liver disease" RELATED [GARD:0009457] synonym: "isolated congenital polycystic liver disease" BROAD [Orphanet:2924] synonym: "isolated polycystic liver disease" BROAD [Orphanet:2924] synonym: "nonsyndromic congenital polycystic liver disease" EXACT [MONDO:patterns/isolated] synonym: "nonsyndromic polycystic liver disease (disease)" EXACT [MONDO:patterns/isolated] synonym: "PCLD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:174050, Orphanet:2924] synonym: "PCLD1" EXACT ABBREVIATION [OMIM:174050] synonym: "polycystic liver disease" RELATED [MONDO:Lexical, OMIM:174050] synonym: "polycystic liver disease 1" EXACT [] synonym: "polycystic liver disease 1 with or without kidney cysts" EXACT [OMIM:174050] xref: MedDRA:10010427 {source="Orphanet:2924/e", source="Orphanet:2924"} xref: MedDRA:10048834 {source="Orphanet:2924/e", source="Orphanet:2924"} xref: OMIM:174050 {source="Orphanet:2924/e", source="MONDO:equivalentTo", source="Orphanet:2924"} xref: SCTID:716196007 {source="MONDO:equivalentTo"} xref: UMLS:C4255088 {source="MONDO:equivalentObsolete"} is_a: MONDO:0000447 {source="DC-OMIM:174050", source="MONDO:Redundant", source="OMIM:174050"} ! autosomal dominant polycystic liver disease is_a: MONDO:0015509 {source="Orphanet:2924"} ! hereditary biliary tract disease relationship: has_characteristic MONDO:0021128 ! has an isolated presentation property_value: closeMatch http://identifiers.org/meddra/10010427 property_value: closeMatch http://identifiers.org/meddra/10048834 property_value: exactMatch http://identifiers.org/snomedct/716196007 property_value: exactMatch https://omim.org/entry/174050 [Term] id: MONDO:0008266 name: polydactyly, postaxial, type A1 synonym: "PAPA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:174200] synonym: "polydactyly, postaxial" RELATED [OMIM:174200] synonym: "polydactyly, postaxial, type A1" EXACT [MONDO:Lexical, OMIM:174200] synonym: "polydactyly, postaxial, types A1 and B" EXACT [OMIM:174200, OMIM:genemap2] synonym: "postaxial polydactyly, type A" RELATED [OMIM:174200] synonym: "postaxial polydactyly, type B" RELATED [OMIM:174200] xref: OMIM:174200 {source="MONDO:equivalentTo"} xref: Orphanet:93335 {source="MONDO:relatedTo", source="OMIM:174200"} xref: UMLS:C1868120 {source="MONDO:relatedTo", source="OMIM:174200"} is_a: MONDO:0019673 {source="Orphanet:93334/btnt"} ! postaxial polydactyly type A property_value: exactMatch https://omim.org/entry/174200 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008267 name: orofaciodigital syndrome V def: "Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum)." [Orphanet:2919] subset: gard_rare {source="GARD:0004120"} subset: ordo_malformation_syndrome {source="Orphanet:2919"} synonym: "OFD syndrome 5" RELATED [GARD:0004120] synonym: "OFD5" EXACT ABBREVIATION [DOID:0060375, MONDO:Lexical, OMIM:174300, Orphanet:2919] synonym: "Ofds 5" RELATED [OMIM:174300] synonym: "oral facial digital syndrome 5" RELATED [GARD:0004120] synonym: "oral facial digital syndrome type 5" RELATED [GARD:0004120] synonym: "oral-facial-digital syndrome 5" RELATED [GARD:0004120] synonym: "oral-facial-digital syndrome type 5" EXACT [Orphanet:2919] synonym: "oral-Facial-digital syndrome, type 5" RELATED [OMIM:174300] synonym: "orofaciodigital syndrome 5" RELATED [GARD:0004120] synonym: "orofaciodigital syndrome Thurston type" EXACT [DOID:0060375] synonym: "orofaciodigital syndrome type 5" EXACT [MONDORULE:1, OMIM:174300] synonym: "orofaciodigital syndrome type V" EXACT [DOID:0060375, MONDORULE:1] synonym: "orofaciodigital syndrome V" EXACT [MONDO:Lexical, OMIM:174300] synonym: "orofaciodigital syndrome, Thurston type" EXACT [OMIM:174300, Orphanet:2919] synonym: "polydactyly postaxial with median cleft of upper lip" EXACT [Orphanet:2919] synonym: "polydactyly, postaxial, with Median cleft of upper lip" RELATED [OMIM:174300] synonym: "polydactyly, postaxial, with median cleft of upper lip" EXACT [DOID:0060375] synonym: "Thurston syndrome" EXACT [OMIM:174300, Orphanet:2919] xref: DOID:0060375 {source="MONDO:equivalentTo"} xref: MESH:C557819 {source="DOID:0060375", source="MONDO:equivalentTo"} xref: OMIM:174300 {source="Orphanet:2919", source="DOID:0060375", source="MONDO:equivalentTo", source="Orphanet:2919/e"} xref: Orphanet:2919 {source="DOID:0060375", source="MONDO:equivalentTo", source="OMIM:174300"} xref: SCTID:722105002 {source="MONDO:equivalentTo"} xref: UMLS:C1868118 {source="Orphanet:2919", source="DOID:0060375", source="MONDO:equivalentTo", source="Orphanet:2919/e", source="MONDO:ncbi_mim2gene_medline", source="OMIM:174300"} is_a: MONDO:0015375 {source="DC-OMIM:174300", source="DOID:0060375", source="MESH:C557819", source="Orphanet:2919"} ! orofaciodigital syndrome property_value: exactMatch DOID:0060375 property_value: exactMatch http://identifiers.org/mesh/C557819 property_value: exactMatch http://identifiers.org/snomedct/722105002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868118 property_value: exactMatch https://omim.org/entry/174300 property_value: exactMatch Orphanet:2919 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:2919"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4120/orofaciodigital-syndrome-5 xsd:anyURI {source="GARD:0004120"} [Term] id: MONDO:0008268 name: polydactyly-myopia syndrome def: "Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986." [Orphanet:2917] subset: gard_rare {source="GARD:0004413"} subset: ordo_malformation_syndrome {source="Orphanet:2917"} synonym: "Czeizel Brooser syndrome" RELATED [GARD:0004413] synonym: "Czeizel-Brooser syndrome" EXACT [Orphanet:2917] synonym: "PMS" RELATED ABBREVIATION [GARD:0004413] synonym: "polydactyly myopia syndrome" RELATED [GARD:0004413] synonym: "polydactyly, postaxial, with progressive myopia" RELATED [OMIM:174310] synonym: "polydactyly-myopia syndrome" EXACT [OMIM:174310] synonym: "postaxial polydactyly with progressive myopia" RELATED [GARD:0004413] synonym: "postaxial polydactyly-progressive myopia syndrome" RELATED [GARD:0004413] xref: ICD9:625.4 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:C536331 {source="MONDO:equivalentTo"} xref: OMIM:174310 {source="Orphanet:2917/e", source="MONDO:equivalentTo", source="Orphanet:2917"} xref: Orphanet:2917 {source="MONDO:equivalentTo", source="OMIM:174310"} xref: SCTID:82639001 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="Orphanet:2917"} ! syndromic disease property_value: exactMatch http://identifiers.org/mesh/C536331 property_value: exactMatch http://identifiers.org/snomedct/82639001 property_value: exactMatch https://omim.org/entry/174310 property_value: exactMatch Orphanet:2917 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4413/polydactyly-myopia-syndrome xsd:anyURI {source="GARD:0004413"} [Term] id: MONDO:0008269 name: polydactyly of a biphalangeal thumb def: "Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left." [Orphanet:93339] subset: ordo_morphological_anomaly {source="Orphanet:93339"} synonym: "Fromont anomaly" RELATED [OMIM:174400] synonym: "polydactyly preaxial 1" RELATED [GARD:0004417] synonym: "polydactyly, preaxial 1" RELATED [OMIM:174400] synonym: "polydactyly, preaxial I" RELATED [OMIM:174400] synonym: "polydactyly, preaxial type 1" EXACT [MONDORULE:1, OMIM:174400] synonym: "PPD1" EXACT ABBREVIATION [Orphanet:93339] synonym: "preaxial polydactyly 1" RELATED [GARD:0004417] synonym: "preaxial polydactyly type 1" EXACT [Orphanet:93339] synonym: "thenar hypoplasia" RELATED [OMIM:174400] synonym: "thumb polydactyly" RELATED [OMIM:174400] xref: MESH:C536332 {source="MONDO:equivalentTo"} xref: OMIM:174400 {source="Orphanet:93339/e", source="MONDO:equivalentTo", source="Orphanet:93339"} xref: Orphanet:93339 {source="MONDO:equivalentTo", source="OMIM:174400"} xref: SCTID:445216006 {source="MONDO:equivalentTo"} is_a: MONDO:0000722 ! non-syndromic synpolydactyly is_a: MONDO:0017425 {source="DC-OMIM:174400", source="Orphanet:93339"} ! preaxial polydactyly of fingers is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism property_value: exactMatch http://identifiers.org/mesh/C536332 property_value: exactMatch http://identifiers.org/snomedct/445216006 property_value: exactMatch https://omim.org/entry/174400 property_value: exactMatch Orphanet:93339 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0008270 name: polydactyly of a triphalangeal thumb def: "A form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia." [https://orcid.org/0000-0001-5208-3432, Orphanet:93336] subset: ordo_morphological_anomaly {source="Orphanet:93336"} synonym: "polydactyly of triphalangeal thumb" RELATED [OMIM:174500] synonym: "polydactyly, preaxial 2" RELATED [OMIM:174500] synonym: "polydactyly, preaxial II" RELATED [MONDO:Lexical, OMIM:174500] synonym: "polydactyly, preaxial type 2" EXACT [MONDORULE:1, OMIM:174500] synonym: "polydactyly, preaxial type II" EXACT [OMIM:174500, OMIM:genemap2] synonym: "PPD2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:174500, Orphanet:93336] synonym: "preaxial polydactyly type 2" EXACT [Orphanet:93336] synonym: "TPT-PS syndrome" RELATED [OMIM:174500] synonym: "triphalangeal thumb" RELATED [OMIM:174500] synonym: "triphalangeal thumb with polysyndactyly" RELATED [OMIM:174500] synonym: "triphalangeal thumb, type i" EXACT [OMIM:174500, OMIM:genemap2] synonym: "triphalangeal thumb-polydactyly syndrome" RELATED [OMIM:174500] synonym: "triphalangeal thumb-polysyndactyly syndrome" RELATED [OMIM:174500] xref: OMIM:174500 {source="MONDO:equivalentTo", source="Orphanet:93336", source="Orphanet:93336/ntbt"} xref: Orphanet:2950 {source="MONDO:relatedTo", source="OMIM:174500"} xref: Orphanet:93336 {source="MONDO:equivalentTo", source="OMIM:174500"} xref: SCTID:715710001 {source="MONDO:equivalentTo"} xref: UMLS:C1868114 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:93336", source="OMIM:174500"} is_a: MONDO:0017425 {source="DC-OMIM:174500", source="Orphanet:93336"} ! preaxial polydactyly of fingers property_value: exactMatch http://identifiers.org/snomedct/715710001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868114 property_value: exactMatch https://omim.org/entry/174500 property_value: exactMatch Orphanet:93336 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: relatedMatch Orphanet:2950 [Term] id: MONDO:0008271 name: polydactyly of an index finger def: "Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral. There have been no further descriptions in the literature since 1962." [Orphanet:93337] subset: ordo_morphological_anomaly {source="Orphanet:93337"} synonym: "index finger polydactyly" RELATED [OMIM:174600] synonym: "polydactyly, preaxial 3" RELATED [OMIM:174600] synonym: "polydactyly, preaxial III" RELATED [OMIM:174600] synonym: "polydactyly, preaxial type 3" EXACT [MONDORULE:1, OMIM:174600] synonym: "PPD3" EXACT ABBREVIATION [Orphanet:93337] synonym: "preaxial polydactyly type 3" EXACT [Orphanet:93337] xref: MESH:C566784 {source="MONDO:equivalentTo"} xref: OMIM:174600 {source="MONDO:equivalentTo", source="Orphanet:93337", source="Orphanet:93337/e"} xref: Orphanet:93337 {source="MONDO:equivalentTo", source="OMIM:174600"} xref: SCTID:723446006 {source="MONDO:equivalentTo"} xref: UMLS:C1868113 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:93337", source="OMIM:174600"} is_a: MONDO:0000722 ! non-syndromic synpolydactyly is_a: MONDO:0017425 {source="DC-OMIM:174600", source="Orphanet:93337"} ! preaxial polydactyly of fingers is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism property_value: exactMatch http://identifiers.org/mesh/C566784 property_value: exactMatch http://identifiers.org/snomedct/723446006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868113 property_value: exactMatch https://omim.org/entry/174600 property_value: exactMatch Orphanet:93337 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0008272 name: polysyndactyly 4 def: "Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present." [Orphanet:93338] subset: gard_rare subset: ordo_morphological_anomaly {source="Orphanet:93338"} synonym: "crossed polydactyly type 1" RELATED [GARD:0001616] synonym: "crossed polydactyly, type 1" RELATED [OMIM:174700] synonym: "polydactyly preaxial 4" RELATED [GARD:0009903] synonym: "polydactyly, preaxial 4" RELATED [OMIM:174700] synonym: "polydactyly, preaxial IV" RELATED [OMIM:174700] synonym: "polydactyly, preaxial type 4" EXACT [MONDORULE:1, OMIM:174700] synonym: "polydactyly, preaxial, type IV" EXACT [OMIM:174700, OMIM:genemap2] synonym: "polysyndactyly uncomplicated" RELATED [GARD:0009903] synonym: "polysyndactyly, uncomplicated" RELATED [OMIM:174700] synonym: "PPD4" EXACT ABBREVIATION [Orphanet:93338] synonym: "preaxial polydactyly 4" RELATED [GARD:0009903] synonym: "preaxial polydactyly type 4" EXACT [Orphanet:93338] xref: ICD9:755.10 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10063143 {source="Orphanet:93338/e", source="Orphanet:93338"} xref: OMIM:174700 {source="Orphanet:93338/e", source="MONDO:equivalentTo", source="Orphanet:93338"} xref: Orphanet:93338 {source="OMIM:174700", source="MONDO:equivalentTo"} xref: UMLS:C1868111 {source="OMIM:174700", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:93338"} is_a: MONDO:0000722 ! non-syndromic synpolydactyly is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0017425 {source="DC-OMIM:174700", source="Orphanet:93338"} ! preaxial polydactyly of fingers is_a: MONDO:0019052 ! inborn errors of metabolism is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism property_value: closeMatch http://identifiers.org/meddra/10063143 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868111 property_value: exactMatch https://omim.org/entry/174700 property_value: exactMatch Orphanet:93338 property_value: excluded_subClassOf MONDO:0005066 {source="NCIT:C125597"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1616/crossed-polydactyly-type-1 xsd:anyURI {source="GARD:0001616"} [Term] id: MONDO:0008274 name: polyostotic fibrous dysplasia def: "Fibrous dysplasia affecting more than one bone. When it is associated with café-au-lait skin pigmentation and endocrine disorders, it is known as McCune-Albright syndrome." [NCIT:P378] subset: ordo_clinical_subtype {source="Orphanet:93276"} synonym: "fibrous dysplasia of bone" BROAD [NCIT:C34609] synonym: "PFD" EXACT ABBREVIATION [OMIM:174800] synonym: "polyostotic fibrous dysplasia of bone" EXACT [NCIT:C34610] xref: ICD10CM:Q78.1 {source="Orphanet:93276", source="Orphanet:93276/attributed", source="Orphanet:93276/ntbt", source="MONDO:equivalentTo"} xref: ICD9:756.54 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10036120 {source="Orphanet:93276", source="Orphanet:93276/e"} xref: MESH:D005359 {source="Orphanet:93276", source="MONDO:cjm", source="MONDO:equivalentTo", source="Orphanet:93276/e"} xref: NCIT:C34610 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:93276 {source="MONDO:equivalentTo"} xref: SCTID:36517007 {source="MONDO:equivalentTo"} is_a: MONDO:0000845 {source="MESH:D005359", source="Orphanet:93276"} ! fibrous dysplasia property_value: closeMatch http://identifiers.org/meddra/10036120 property_value: exactMatch http://identifiers.org/mesh/D005359 property_value: exactMatch http://identifiers.org/snomedct/36517007 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q78.1 property_value: exactMatch NCIT:C34610 property_value: exactMatch Orphanet:93276 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5507 xsd:anyURI [Term] id: MONDO:0008275 name: familial expansile osteolysis subset: ordo_disease {source="Orphanet:85195"} synonym: "EOF" RELATED ABBREVIATION [GARD:0009168] synonym: "expansile osteolysis, familial" RELATED [OMIM:174810] synonym: "familial expansile osteolysis" EXACT [MONDO:Lexical, OMIM:174810] synonym: "FEO" RELATED ABBREVIATION [MONDO:Lexical, OMIM:174810] synonym: "HEPOD" RELATED ABBREVIATION [GARD:0009168] synonym: "hereditary expansile polyostotic osteolytic dysplasia" EXACT [Orphanet:85195] synonym: "McCabe disease" EXACT [Orphanet:85195] synonym: "Mccabe disease" RELATED [OMIM:174810] synonym: "osteolysis, familial expansile" RELATED [GARD:0009168] synonym: "polyostotic osteolytic dysplasia, hereditary expansile" RELATED [OMIM:174810] xref: DOID:0111542 {source="MONDO:equivalentTo"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536335 {source="Orphanet:85195/e", source="MONDO:equivalentTo", source="Orphanet:85195"} xref: OMIM:174810 {source="Orphanet:85195/e", source="MONDO:equivalentTo", source="Orphanet:85195"} xref: Orphanet:85195 {source="OMIM:174810", source="MONDO:equivalentTo"} xref: SCTID:254153009 {source="MONDO:equivalentTo"} is_a: MONDO:0019707 {source="Orphanet:85195", source="PMID:31633310"} ! primary osteolysis property_value: exactMatch DOID:0111542 property_value: exactMatch http://identifiers.org/mesh/C536335 property_value: exactMatch http://identifiers.org/snomedct/254153009 property_value: exactMatch https://omim.org/entry/174810 property_value: exactMatch Orphanet:85195 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0008276 name: generalized juvenile polyposis/juvenile polyposis coli subset: clingen subset: ordo_clinical_subtype {source="Orphanet:329971"} synonym: "generalized juvenile polyposis/juvenile polyposis coli" EXACT [] synonym: "jPS" RELATED [MONDO:Lexical, OMIM:174900] synonym: "juvenile intestinal polyposis" RELATED [OMIM:174900] synonym: "juvenile polyposis coli" RELATED [OMIM:174900] synonym: "juvenile polyposis of stomach" RELATED [OMIM:174900] synonym: "juvenile polyposis syndrome" RELATED [MONDO:Lexical, OMIM:174900] synonym: "polyposis, familial, of Entire gastrointestinal tract" RELATED [OMIM:174900] synonym: "polyposis, juvenile intestinal" RELATED [OMIM:174900] xref: DOID:0050787 {source="MONDO:equivalentTo"} xref: Orphanet:329971 {source="OMIM:174900", source="MONDO:equivalentTo"} xref: UMLS:CN204230 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 {source="DOID:0050787", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0017380 {source="Orphanet:329971"} ! juvenile polyposis syndrome property_value: exactMatch DOID:0050787 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204230 property_value: exactMatch Orphanet:329971 [Term] id: MONDO:0008277 name: stomach polyp def: "A polyp that arises from the stomach. This category includes neoplastic polyps (intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps), and non-neoplastic polyps (hyperplastic polyps and hamartomatous polyps)." [NCIT:C3954] comment: Editor note: consider splitting polyposis from polyp synonym: "gastric polyp" EXACT [NCIT:C3954] synonym: "gastric polyposa" EXACT [NCIT:C3954] synonym: "gastric polyposis" RELATED [NCIT:C3954] synonym: "polyps of stomach" EXACT [NCIT:C3954] synonym: "polyps of the stomach" EXACT [NCIT:C3954] xref: MESH:C562464 {source="MONDO:equivalentTo"} xref: NCIT:C3954 {source="MONDO:equivalentTo"} xref: SCTID:87252009 {source="MONDO:equivalentTo"} xref: UMLS:C0236048 {source="MONDO:relatedTo", source="NCIT:C3954"} is_a: EFO:0000662 ! polyp is_a: EFO:0009608 {source="MESH:C562464/inferred", source="MONDO:Redundant", source="NCIT:C3954"} ! stomach disease property_value: exactMatch http://identifiers.org/mesh/C562464 property_value: exactMatch http://identifiers.org/snomedct/87252009 property_value: exactMatch NCIT:C3954 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0008278 name: juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome synonym: "JP/Hht syndrome" RELATED [OMIM:175050] synonym: "JPHT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:175050] synonym: "jPS/Hht" RELATED [OMIM:175050] synonym: "juvenile polyposis with hereditary hemorrhagic telangiectasia" RELATED [OMIM:175050] synonym: "juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome" EXACT [MONDO:Lexical, OMIM:175050] synonym: "polyposis, generalised juvenile, with pulmonary arteriovenous malformation" RELATED OMO:0003005 [] synonym: "polyposis, generalized juvenile, with pulmonary arteriovenous malformation" RELATED [OMIM:175050] synonym: "telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli" RELATED [OMIM:175050] xref: DOID:0111543 {source="MONDO:equivalentTo"} xref: MESH:C563412 {source="MONDO:equivalentTo"} xref: OMIM:175050 {source="MONDO:equivalentTo"} xref: UMLS:C1832942 {source="OMIM:175050", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015185 {source="https://orcid.org/0000-0001-5208-3432"} ! intestinal polyposis syndrome is_a: MONDO:0018188 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary intestinal polyposis property_value: exactMatch DOID:0111543 property_value: exactMatch http://identifiers.org/mesh/C563412 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832942 property_value: exactMatch https://omim.org/entry/175050 property_value: excluded_subClassOf MONDO:0017380 {source="Orphanet:2929/btnt"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3685 xsd:anyURI [Term] id: MONDO:0008280 name: Peutz-Jeghers syndrome def: "Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." [Orphanet:2869] subset: clingen subset: gard_rare {source="GARD:0007378"} subset: ordo_disease {source="Orphanet:2869"} synonym: "colonic hamartomatous polyp" EXACT [DOID:3852, NCIT:C5519] synonym: "gastric Peutz-Jeghers polyp" EXACT [DOID:3852] synonym: "hamartomatous intestinal polyposis" EXACT [Orphanet:2869] synonym: "Jeghers-Peutz syndrome" EXACT [NCIT:C3324] synonym: "lentiginosis, perioral" RELATED [GARD:0007378] synonym: "periorificial lentiginosis syndrome" RELATED [GARD:0007378] synonym: "Peutz Jeghers colon polyp" EXACT [DOID:3852] synonym: "Peutz Jeghers polyposis" RELATED [GARD:0007378] synonym: "Peutz's syndrome" EXACT [NCIT:C3324] synonym: "Peutz-Jeghers polyp of small intestine" EXACT [DOID:3852, NCIT:C7755] synonym: "Peutz-Jeghers small bowel hamartoma" EXACT [DOID:3852] synonym: "Peutz-Jeghers syndrome" EXACT [MONDO:Lexical, NCIT:C3324, OMIM:175200] synonym: "PJS" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C3324, OMIM:175200, Orphanet:2869] synonym: "polyposis, hamartomatous intestinal" RELATED [OMIM:175200] synonym: "polyps and spots syndrome" EXACT [Orphanet:2869] synonym: "polyps-and-Spots syndrome" RELATED [OMIM:175200] xref: DOID:3852 {source="MONDO:equivalentTo"} xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10034764 {source="Orphanet:2869/e", source="Orphanet:2869"} xref: MESH:D010580 {source="Orphanet:2869/e", source="DOID:3852", source="MONDO:equivalentTo", source="Orphanet:2869"} xref: NCIT:C3324 {source="DOID:3852", source="MONDO:equivalentTo"} xref: NCIT:C4733 {source="MONDO:relatedTo", source="DOID:3852"} xref: OMIM:175200 {source="Orphanet:2869/e", source="DOID:3852", source="MONDO:equivalentTo", source="Orphanet:2869"} xref: Orphanet:2869 {source="MONDO:equivalentTo", source="OMIM:175200"} xref: SCTID:54411001 {source="DOID:3852", source="MONDO:equivalentTo"} xref: UMLS:C0031269 {source="Orphanet:2869/e", source="DOID:3852", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2869", source="NCIT:C3324", source="OMIM:175200"} xref: UMLS:C1333088 {source="DOID:3852", source="MONDO:equivalentObsolete"} is_a: MONDO:0015185 {source="Orphanet:2869"} ! intestinal polyposis syndrome is_a: MONDO:0017128 {source="MONDO:Redundant", source="Orphanet:2869"} ! inherited digestive tract tumor is_a: MONDO:0018188 {source="Orphanet:2869"} ! hereditary intestinal polyposis is_a: MONDO:0021118 ! intestinal neoplasm relationship: disease_has_feature EFO:1000470 {source="NCIT:C3324"} ! Peutz-Jeghers Polyp relationship: disease_has_feature MONDO:0019289 {source="Orphanet:2869"} ! hyperpigmentation of the skin relationship: disease_has_feature MONDO:0020178 {source="Orphanet:2869"} ! palpebral lentiginosis relationship: disease_has_feature MONDO:0020203 {source="Orphanet:2869"} ! pigmented conjunctival lesion property_value: closeMatch http://identifiers.org/meddra/10034764 property_value: exactMatch DOID:3852 property_value: exactMatch http://identifiers.org/mesh/D010580 property_value: exactMatch http://identifiers.org/snomedct/54411001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031269 property_value: exactMatch https://omim.org/entry/175200 property_value: exactMatch NCIT:C3324 property_value: exactMatch Orphanet:2869 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7378/peutz-jeghers-syndrome xsd:anyURI {source="GARD:0007378"} [Term] id: MONDO:0008283 name: Cronkhite-Canada syndrome def: "Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation." [Orphanet:2930] subset: gard_rare subset: ordo_disease {source="Orphanet:2930"} synonym: "Cronkhite-Canada disease" RELATED [GARD:0004427] synonym: "Cronkhite-Canada syndrome" EXACT [OMIM:175500] synonym: "gastric Cronkhite Canada polyposis" EXACT [DOID:6225] synonym: "gastrointestinal polyposis-ectodermal changes syndrome" EXACT [Orphanet:2930] synonym: "gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome" EXACT [Orphanet:2930] synonym: "polyposis skin pigmentation alopecia fingernail changes" RELATED [GARD:0004427] synonym: "polyposis, skin pigmentation, alopecia, and fingernail changes" RELATED [OMIM:175500] xref: DOID:6225 {source="MONDO:equivalentTo"} xref: MedDRA:10062907 {source="Orphanet:2930", source="Orphanet:2930/e"} xref: MESH:D044483 {source="MONDO:equivalentTo"} xref: NCIT:C7035 {source="DOID:6225", source="MONDO:equivalentTo"} xref: OMIM:175500 {source="MONDO:equivalentTo", source="GARD:0004427", source="Orphanet:2930", source="Orphanet:2930/e"} xref: Orphanet:2930 {source="MONDO:equivalentTo", source="GARD:0004427", source="OMIM:175500"} xref: SCTID:76304001 {source="MONDO:equivalentTo"} xref: UMLS:C0282207 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2930", source="OMIM:175500", source="Orphanet:2930/e"} is_a: EFO:0000405 {source="MONDO:Redundant", source="Orphanet:2930/inferred"} ! digestive system disease is_a: MONDO:0015185 {source="Orphanet:2930"} ! intestinal polyposis syndrome is_a: MONDO:0019287 {source="Orphanet:2930"} ! ectodermal dysplasia syndrome property_value: closeMatch http://identifiers.org/meddra/10062907 property_value: exactMatch DOID:6225 property_value: exactMatch http://identifiers.org/mesh/D044483 property_value: exactMatch http://identifiers.org/snomedct/76304001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0282207 property_value: exactMatch https://omim.org/entry/175500 property_value: exactMatch NCIT:C7035 property_value: exactMatch Orphanet:2930 property_value: excluded_subClassOf MONDO:0006224 {source="NCIT:C7035"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4427/cronkhite-canada-disease xsd:anyURI {source="GARD:0004427"} [Term] id: MONDO:0008286 name: crossed polysyndactyly def: "Crossed polysyndactyly is a rare, genetic, congenital limb malformation disorder characterized by unilateral or bilateral postaxial polydactyly in the hands and preaxial polydactyly in the feet, associated with bilateral cutaneous syndactyly of first, second and third toes. Cutaneous syndactyly in hands has also been reported in some patients. There have been no further descriptions in the literature since 1994." [Orphanet:2935] subset: gard_rare {source="GARD:0001617"} subset: ordo_malformation_syndrome {source="Orphanet:2935"} synonym: "crossed polydactyly" EXACT [Orphanet:2935] synonym: "polysyndactyly, crossed" RELATED [OMIM:175690] xref: MESH:C566773 {source="MONDO:equivalentTo"} xref: OMIM:175690 {source="Orphanet:2935/e", source="MONDO:equivalentTo", source="Orphanet:2935"} xref: Orphanet:2935 {source="OMIM:175690", source="MONDO:equivalentTo"} xref: UMLS:C1867999 {source="OMIM:175690", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2935"} is_a: MONDO:0019054 {source="Orphanet:2935"} ! congenital limb malformation property_value: exactMatch http://identifiers.org/mesh/C566773 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867999 property_value: exactMatch https://omim.org/entry/175690 property_value: exactMatch Orphanet:2935 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1617/crossed-polysyndactyly xsd:anyURI {source="GARD:0001617"} [Term] id: MONDO:0008287 name: Greig cephalopolysyndactyly syndrome def: "Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome." [Orphanet:380] subset: gard_rare {source="GARD:0006550"} subset: ordo_malformation_syndrome {source="Orphanet:380"} synonym: "GCPS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:175700, Orphanet:380] synonym: "Greig cephalopolysyndactyly syndrome" EXACT [MONDO:Lexical, OMIM:175700] synonym: "Greig cephalosyndactyly syndrome" EXACT [NCIT:C35255] synonym: "Greig syndrome" RELATED [GARD:0006550] synonym: "Greig's syndrome" EXACT [NCIT:C35255] synonym: "polysyndactyly with peculiar skull Shape" RELATED [OMIM:175700] synonym: "polysyndactyly with peculiars skull shape" EXACT [DOID:14761] xref: DOID:14761 {source="MONDO:equivalentTo"} xref: MedDRA:10053878 {source="Orphanet:380", source="Orphanet:380/e"} xref: MESH:C537300 {source="MONDO:equivalentTo", source="Orphanet:380", source="DOID:14761", source="Orphanet:380/e"} xref: NCIT:C35255 {source="MONDO:equivalentTo", source="DOID:14761"} xref: OMIM:175700 {source="MONDO:equivalentTo", source="Orphanet:380", source="DOID:14761", source="Orphanet:380/e"} xref: Orphanet:380 {source="MONDO:equivalentTo", source="OMIM:175700"} xref: SCTID:32985001 {source="MONDO:equivalentTo", source="DOID:14761"} xref: UMLS:C0265306 {source="MONDO:equivalentTo", source="Orphanet:380", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C35255", source="DOID:14761", source="Orphanet:380/e", source="OMIM:175700"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C35255"} ! syndromic disease is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism property_value: closeMatch http://identifiers.org/meddra/10053878 property_value: exactMatch DOID:14761 property_value: exactMatch http://identifiers.org/mesh/C537300 property_value: exactMatch http://identifiers.org/snomedct/32985001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265306 property_value: exactMatch https://omim.org/entry/175700 property_value: exactMatch NCIT:C35255 property_value: exactMatch Orphanet:380 property_value: excluded_subClassOf MONDO:0019796 {source="DOID:14761"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6550/greig-cephalopolysyndactyly-syndrome xsd:anyURI {source="GARD:0006550"} [Term] id: MONDO:0008289 name: brain small vessel disease 1 with or without ocular anomalies def: "Any porencephaly in which the cause of the disease is a mutation in the COL4A1 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:36383"} synonym: "ADT1P" EXACT ABBREVIATION [OMIM:175780] synonym: "autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy" EXACT [DOID:0090125] synonym: "brain small vessel disease with Axenfeld-Riegar anomaly" EXACT [DOID:0090125] synonym: "brain small vessel disease with axenfeld-rieger anomaly" EXACT [OMIM:175780, OMIM:607595] synonym: "brain small vessel disease with haemorrhage" EXACT OMO:0003005 [] synonym: "brain small vessel disease with hemorrhage" EXACT [DOID:0090125, OMIM:175780] synonym: "brain small vessel disease with or without ocular anomalies" EXACT [DOID:0090125, MONDO:Lexical, OMIM:607595] synonym: "BSVD" EXACT ABBREVIATION [DOID:0090125, MONDO:Lexical, OMIM:607595] synonym: "BSVD1" EXACT ABBREVIATION [OMIM:175780] synonym: "COL4A1 porencephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "COL4A1-related brain small vessel disease with haemorrhage" EXACT OMO:0003005 [] synonym: "COL4A1-related brain small vessel disease with hemorrhage" EXACT [DOID:0090125, Orphanet:36383] synonym: "COL4A1-related familial vascular leukoencephalopathy" EXACT [OMIM:607595] synonym: "COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome" EXACT [DOID:0090125, Orphanet:36383] synonym: "hemiplegia, infantile, with porencephaly" EXACT [OMIM:175780] synonym: "hemiplegia, infantile, with porencephaly porencephaly, type 1" RELATED [OMIM:175780] synonym: "infantile hemiparesis" EXACT [DOID:0090125, OMIM:607595] synonym: "leukoencephalopathy with axenfeld-rieger anomaly" EXACT [DOID:0090125, OMIM:175780, OMIM:607595] synonym: "POREN1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:175780] synonym: "porencephaly 1" EXACT [https://github.com/monarch-initiative/mondo/issues/1089, MONDO:Lexical, OMIM:175780] synonym: "porencephaly caused by mutation in COL4A1" EXACT [MONDO:design_pattern] synonym: "porencephaly type 1" EXACT [MONDORULE:1, OMIM:175780] synonym: "porencephaly, type 1, autosomal dominant" RELATED [OMIM:175780] synonym: "retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant" EXACT [OMIM:175780, OMIM:607595] synonym: "T1P" EXACT ABBREVIATION [OMIM:175780] xref: DOID:0090125 {source="MONDO:equivalentTo"} xref: MESH:C531642 {source="MONDO:equivalentTo", source="Orphanet:36383/e"} xref: MESH:C564372 {source="MONDO:MEDIC", source="MONDO:equivalentTo"} xref: OMIM:175780 {source="MONDO:equivalentTo"} xref: OMIM:607595 {source="MONDO:equivalentObsolete", source="Orphanet:36383", source="DOID:0090125", source="Orphanet:36383/e"} xref: Orphanet:36383 {source="MONDO:equivalentTo", source="DOID:0090125", source="OMIM:607595"} xref: UMLS:CN032791 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0020496 {source="Orphanet:99810/btnt"} ! familial porencephaly property_value: exactMatch DOID:0090125 property_value: exactMatch http://identifiers.org/mesh/C531642 property_value: exactMatch http://identifiers.org/mesh/C564372 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN032791 property_value: exactMatch https://omim.org/entry/175780 property_value: exactMatch Orphanet:36383 property_value: excluded_subClassOf MONDO:0018790 {source="Orphanet:36383"} [Term] id: MONDO:0008291 name: porokeratosis plantaris palmaris et disseminata def: "Porokeratosis plantaris palmaris et disseminata (PPPD) is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually become generalized." [Orphanet:737] subset: ordo_disease {source="Orphanet:737"} synonym: "palmar, plantar and disseminated porokeratosis" EXACT [Orphanet:737] synonym: "POROK2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:175850] synonym: "porokeratosis 2, palmar, plantar, and disseminated" EXACT [OMIM:175850, OMIM:genemap2] synonym: "porokeratosis 2, palmar, plantar, and disseminated type" RELATED [MONDO:Lexical, OMIM:175850] synonym: "porokeratosis palmaris Et plantaris disseminata" RELATED [OMIM:175850] synonym: "porokeratosis plantaris palmaris et disseminata" EXACT [OMIM:175850] synonym: "porokeratosis, palmar, plantar, and disseminated" RELATED [OMIM:175850] synonym: "porokeratosis, palmar, plantar, and disseminated, 1" RELATED [OMIM:175850] xref: OMIM:175850 {source="MONDO:equivalentTo", source="Orphanet:737", source="Orphanet:737/e"} xref: Orphanet:737 {source="MONDO:equivalentTo", source="OMIM:175850"} xref: SCTID:718218005 {source="MONDO:equivalentTo"} is_a: EFO:1000757 {source="DC-OMIM:175850", source="OMIM:175850", source="Orphanet:737"} ! porokeratosis is_a: MONDO:0016518 {source="Orphanet:737"} ! isolated punctate palmoplantar keratoderma property_value: exactMatch http://identifiers.org/snomedct/718218005 property_value: exactMatch https://omim.org/entry/175850 property_value: exactMatch Orphanet:737 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008292 name: punctate palmoplantar keratoderma type 2 def: "Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections (\"spiny keratosis\") on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed." [Orphanet:79502] subset: ordo_disease {source="Orphanet:79502"} synonym: "keratoderma palmoplantar, punctate type 2" RELATED [GARD:0004439] synonym: "palmoplantar keratoderma, punctate type II" RELATED [MONDO:Lexical, OMIM:175860] synonym: "porokeratosis punctata palmaris Et plantaris" RELATED [OMIM:175860] synonym: "PPKP2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:175860, Orphanet:79502] synonym: "PPPP" EXACT ABBREVIATION [Orphanet:79502] synonym: "punctate palmoplantar hyperkeratosis type 2" EXACT [Orphanet:79502] synonym: "punctate palmoplantar keratoderma type II" RELATED [DOID:0080213] synonym: "type 2 punctate PPK" RELATED [GARD:0004439] xref: DOID:0080213 {source="MONDO:equivalentTo"} xref: OMIM:175860 {source="Orphanet:79502", source="DOID:0080213", source="MONDO:equivalentTo", source="Orphanet:79502/e"} xref: Orphanet:79502 {source="MONDO:equivalentTo", source="OMIM:175860"} xref: SCTID:765096001 {source="MONDO:equivalentTo"} xref: UMLS:C1867982 {source="Orphanet:79502", source="MONDO:equivalentTo", source="Orphanet:79502/e", source="MONDO:ncbi_mim2gene_medline", source="OMIM:175860"} is_a: MONDO:0016518 {source="Orphanet:79502"} ! isolated punctate palmoplantar keratoderma property_value: exactMatch DOID:0080213 property_value: exactMatch http://identifiers.org/snomedct/765096001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867982 property_value: exactMatch https://omim.org/entry/175860 property_value: exactMatch Orphanet:79502 [Term] id: MONDO:0008294 name: acute intermittent porphyria def: "Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations." [Orphanet:79276] subset: ordo_disease {source="Orphanet:79276"} synonym: "acute intermittent porphyria" EXACT [] synonym: "AIP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:176000] synonym: "AIP - acute intermittent porphyria" EXACT [DOID:3890] synonym: "HMBS deficiency" RELATED [GARD:0005732] synonym: "hydroxymethylbilane synthase deficiency" RELATED [GARD:0005732] synonym: "PBGD deficiency" RELATED [OMIM:176000] synonym: "porphobilinogen deaminase deficiency" RELATED [OMIM:176000] synonym: "porphyria intermittent acute" EXACT [DOID:3890] synonym: "porphyria, acute intermittent" RELATED [MONDO:Lexical, OMIM:176000] synonym: "porphyria, acute intermittent, Nonerythroid variant" RELATED [OMIM:176000] synonym: "porphyria, Chester type" RELATED [OMIM:176000] synonym: "porphyria, Swedish type" RELATED [OMIM:176000] synonym: "pyrroloporphyria" EXACT [DOID:3890] synonym: "UPS deficiency" RELATED [OMIM:176000] synonym: "uroporphyrinogen synthase deficiency" RELATED [OMIM:176000] xref: DOID:3890 {source="MONDO:equivalentTo"} xref: MESH:D017118 {source="Orphanet:79276/e", source="MONDO:equivalentTo", source="Orphanet:79276", source="DOID:3890"} xref: NCIT:C84536 {source="MONDO:equivalentTo", source="DOID:3890"} xref: OMIM:176000 {source="Orphanet:79276/e", source="MONDO:equivalentTo", source="Orphanet:79276", source="DOID:3890"} xref: Orphanet:79276 {source="MONDO:equivalentTo", source="OMIM:176000"} xref: SCTID:234422006 {source="MONDO:equivalentTo", source="DOID:3890"} xref: UMLS:C0162565 {source="Orphanet:79276/e", source="NCIT:C84536", source="MONDO:equivalentTo", source="OMIM:176000", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:79276", source="DOID:3890"} is_a: MONDO:0002520 {source="DOID:3890", source="MESH:D017118", source="Orphanet:79276"} ! hepatic porphyria is_a: MONDO:0019142 {source="DOID:3890/inferred", source="MESH:D017118/inferred", source="MONDO:Redundant", source="NCIT:C84536", source="Orphanet:79276/inferred"} ! inherited porphyria is_a: MONDO:0020683 ! acute disease property_value: exactMatch DOID:3890 property_value: exactMatch http://identifiers.org/mesh/D017118 property_value: exactMatch http://identifiers.org/snomedct/234422006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162565 property_value: exactMatch https://omim.org/entry/176000 property_value: exactMatch NCIT:C84536 property_value: exactMatch Orphanet:79276 [Term] id: MONDO:0008295 name: sporadic porphyria cutanea tarda def: "An instance of porphyria cutanea tarda that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] comment: Editor note: see notes on parent class PCT for discussion of classification into sporadic/familial subset: ordo_clinical_subtype {source="Orphanet:443057"} synonym: "acquired porphyria cutanea tarda" EXACT [MONDO:patterns/acquired] synonym: "PCT, 'sporadic' type" RELATED [OMIM:176090] synonym: "PCT, type 1" RELATED [OMIM:176090] synonym: "porphyria cutanea tarda type I" EXACT [Orphanet:443057] synonym: "porphyria cutanea tarda, type 1" RELATED [OMIM:176090] synonym: "porphyria cutanea tarda, type I" RELATED [OMIM:176090] xref: MESH:C566768 {source="MONDO:equivalentTo"} xref: OMIM:176090 {source="Orphanet:443057", source="MONDO:equivalentTo", source="Orphanet:443057/e"} xref: Orphanet:443057 {source="MONDO:equivalentTo"} xref: SCTID:402479002 {source="MONDO:equivalentTo"} xref: UMLS:C1276127 {source="MONDO:equivalentTo"} xref: UMLS:C1867968 {source="Orphanet:443057", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:176090"} is_a: EFO:1000639 ! acquired metabolic disease is_a: MONDO:0015104 {source="MESH:C566768", source="MONDO:Redundant", source="Orphanet:443057"} ! porphyria cutanea tarda intersection_of: MONDO:0015104 ! porphyria cutanea tarda intersection_of: has_characteristic MONDO:0021141 ! acquired property_value: exactMatch http://identifiers.org/mesh/C566768 property_value: exactMatch http://identifiers.org/snomedct/402479002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1276127 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867968 property_value: exactMatch https://omim.org/entry/176090 property_value: exactMatch Orphanet:443057 [Term] id: MONDO:0008297 name: variegate porphyria def: "Variegate porphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions." [Orphanet:79473] subset: gard_rare {source="GARD:0007848"} subset: ordo_disease {source="Orphanet:79473"} synonym: "porphyria variegata" RELATED [OMIM:176200] synonym: "porphyria variegata, susceptibility to" RELATED [OMIM:176200, OMIM:genemap2] synonym: "porphyria variegate" RELATED [GARD:0007848] synonym: "porphyria, South African type" RELATED [OMIM:176200] synonym: "PPOX deficiency" RELATED [OMIM:176200] synonym: "Protocoproporphyria" EXACT [DOID:4346] synonym: "protoporphyrinogen oxidase deficiency" EXACT [DOID:4346, OMIM:176200, Orphanet:79473] synonym: "variegate porphyria" EXACT [OMIM:176200, Orphanet:79473] synonym: "variegate porphyria, homozygous variant" RELATED [OMIM:176200] synonym: "VP" RELATED ABBREVIATION [GARD:0007848] xref: DOID:4346 {source="MONDO:equivalentTo"} xref: MESH:D046350 {source="DOID:4346", source="MONDO:equivalentTo"} xref: NCIT:C85219 {source="DOID:4346", source="MONDO:equivalentTo"} xref: OMIM:176200 {source="Orphanet:79473/e", source="DOID:4346", source="MONDO:equivalentTo", source="Orphanet:79473"} xref: Orphanet:79473 {source="MONDO:equivalentTo", source="OMIM:176200"} xref: SCTID:58275005 {source="DOID:4346", source="MONDO:equivalentTo"} xref: UMLS:C0162532 {source="NCIT:C85219", source="DOID:4346", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:176200", source="Orphanet:79473"} is_a: MONDO:0002520 {source="DOID:4346", source="MESH:D046350", source="Orphanet:79473"} ! hepatic porphyria is_a: MONDO:0019142 {source="DOID:4346/inferred", source="MESH:D046350/inferred", source="MONDO:Redundant", source="NCIT:C85219", source="Orphanet:79473/inferred"} ! inherited porphyria property_value: exactMatch DOID:4346 property_value: exactMatch http://identifiers.org/mesh/D046350 property_value: exactMatch http://identifiers.org/snomedct/58275005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162532 property_value: exactMatch https://omim.org/entry/176200 property_value: exactMatch NCIT:C85219 property_value: exactMatch Orphanet:79473 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7848/variegate-porphyria xsd:anyURI {source="GARD:0007848"} [Term] id: MONDO:0008298 name: postaxial tetramelic oligodactyly def: "Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993." [Orphanet:2730] subset: gard_rare {source="GARD:0004065"} subset: ordo_malformation_syndrome {source="Orphanet:2730"} synonym: "oligodactyly tetramelic postaxial" RELATED [GARD:0004065] synonym: "postaxial oligodactyly, tetramelic" RELATED [OMIM:176240] xref: MESH:C566767 {source="MONDO:equivalentTo"} xref: OMIM:176240 {source="Orphanet:2730", source="MONDO:equivalentTo", source="Orphanet:2730/e"} xref: Orphanet:2730 {source="OMIM:176240", source="MONDO:equivalentTo"} xref: UMLS:C1867924 {source="OMIM:176240", source="Orphanet:2730", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation property_value: exactMatch http://identifiers.org/mesh/C566767 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867924 property_value: exactMatch https://omim.org/entry/176240 property_value: exactMatch Orphanet:2730 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4065/oligodactyly-tetramelic-postaxial xsd:anyURI {source="GARD:0004065"} [Term] id: MONDO:0008300 name: Prader-Willi syndrome def: "Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems." [Orphanet:739] subset: gard_rare {source="GARD:0005575"} subset: ordo_disease {source="Orphanet:739"} synonym: "obesity, muscular hypotonia, intellectual disability, short stature, hypogonadotropic hypogonadism, and small hands and feet" RELATED [GARD:0005575] synonym: "obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet" RELATED DEPRECATED [GARD:0005575] synonym: "Prader Willi syndrome" EXACT [DOID:11983] synonym: "Prader-Labhart-Willi syndrome" EXACT [OMIM:176270, Orphanet:739] synonym: "Prader-Willi syndrome" EXACT [MONDO:Lexical, OMIM:176270] synonym: "Prader-Willi syndrome chromosome region" RELATED [OMIM:176270] synonym: "Prader-Willi-Labhart syndrome" EXACT [NCIT:C75463] synonym: "Prader-Willi-like syndrome associated with chromosome 6" RELATED [OMIM:176270] synonym: "PWS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:176270] synonym: "Willi-Prader syndrome" EXACT [Orphanet:739] xref: DOID:11983 {source="MONDO:equivalentTo"} xref: ICD9:759.81 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11983"} xref: MedDRA:10036476 {source="Orphanet:739", source="Orphanet:739/e"} xref: MESH:D011218 {source="MONDO:equivalentTo", source="Orphanet:739", source="DOID:11983", source="Orphanet:739/e"} xref: NCIT:C75463 {source="MONDO:equivalentTo", source="DOID:11983"} xref: OMIM:176270 {source="MONDO:equivalentTo", source="Orphanet:739", source="DOID:11983", source="Orphanet:739/e"} xref: Orphanet:739 {source="OMIM:176270", source="MONDO:equivalentTo"} xref: SCTID:89392001 {source="MONDO:equivalentTo", source="DOID:11983"} xref: UMLS:C0032897 {source="OMIM:176270", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C75463", source="Orphanet:739", source="DOID:11983", source="Orphanet:739/e"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015160 {source="Orphanet:739"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism is_a: MONDO:0016565 {source="Orphanet:739"} ! syndromic genetic obesity is_a: MONDO:0019040 {source="DOID:11983", source="MESH:D011218"} ! chromosomal disorder is_a: MONDO:0100038 {source="https://orcid.org/0000-0002-6733-369X"} ! complex neurodevelopmental disorder is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: closeMatch http://identifiers.org/meddra/10036476 property_value: exactMatch DOID:11983 property_value: exactMatch http://identifiers.org/mesh/D011218 property_value: exactMatch http://identifiers.org/snomedct/89392001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032897 property_value: exactMatch https://omim.org/entry/176270 property_value: exactMatch NCIT:C75463 property_value: exactMatch Orphanet:739 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5575/prader-willi-syndrome xsd:anyURI {source="GARD:0005575"} [Term] id: MONDO:0008301 name: Guttmacher syndrome def: "Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias." [Orphanet:2957] subset: ordo_malformation_syndrome {source="Orphanet:2957"} synonym: "autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias" RELATED [GARD:0004470] synonym: "Guttmacher syndrome" EXACT [OMIM:176305] synonym: "preaxial deficiency, postaxial polydactyly and hypospadias" RELATED [GARD:0004470] synonym: "preaxial deficiency, postaxial polydactyly, and hypospadias" RELATED [OMIM:176305] synonym: "preaxial deficiency-postaxial polydactyly-hypospadias syndrome" EXACT [Orphanet:2957] xref: DOID:0111544 {source="MONDO:equivalentTo"} xref: MESH:C538278 {source="Orphanet:2957/e", source="MONDO:equivalentTo", source="Orphanet:2957"} xref: OMIM:176305 {source="Orphanet:2957/e", source="MONDO:equivalentTo", source="Orphanet:2957"} xref: Orphanet:2957 {source="MONDO:equivalentTo", source="OMIM:176305"} xref: SCTID:722452004 {source="MONDO:equivalentTo"} xref: UMLS:C1867801 {source="Orphanet:2957/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2957", source="OMIM:176305"} is_a: MONDO:0015620 {source="Orphanet:2957"} ! syndromic urogenital tract malformation property_value: exactMatch DOID:0111544 property_value: exactMatch http://identifiers.org/mesh/C538278 property_value: exactMatch http://identifiers.org/snomedct/722452004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867801 property_value: exactMatch https://omim.org/entry/176305 property_value: exactMatch Orphanet:2957 [Term] id: MONDO:0008305 name: Currarino triad def: "Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae)." [Orphanet:1552] subset: ordo_malformation_syndrome {source="Orphanet:1552"} synonym: "CURRARINO syndrome" RELATED [OMIM:176450] synonym: "Currarino syndrome" EXACT [Orphanet:1552] synonym: "Currarino triad" EXACT [OMIM:176450] synonym: "partial sacral agenesis with intact first sacral vertebra, presacral mass and anorectal malformation" RELATED [GARD:0001626] synonym: "sacral agenesis syndrome" RELATED [OMIM:176450] synonym: "sacral agenesis, hereditary, with presacral Mass, anterior meningocele, and/or teratoma, and anorectal malformation" RELATED [OMIM:176450] synonym: "Scra1" RELATED [OMIM:176450] xref: DOID:0111546 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536221 {source="Orphanet:1552", source="MONDO:equivalentTo", source="Orphanet:1552/e"} xref: OMIM:176450 {source="Orphanet:1552", source="MONDO:equivalentTo", source="Orphanet:1552/e"} xref: Orphanet:1552 {source="MONDO:equivalentTo", source="OMIM:176450"} xref: SCTID:413936007 {source="MONDO:equivalentTo"} xref: UMLS:C1531773 {source="Orphanet:1552", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:176450", source="Orphanet:1552/e"} is_a: MONDO:0015246 {source="Orphanet:1552"} ! syndromic anorectal malformation is_a: MONDO:0015846 {source="Orphanet:1552"} ! syndromic uterovaginal malformation is_a: MONDO:0800075 {source="PMID:31633310"} ! dysostosis with predominant vertebral with and without costal involvement property_value: exactMatch DOID:0111546 property_value: exactMatch http://identifiers.org/mesh/C536221 property_value: exactMatch http://identifiers.org/snomedct/413936007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1531773 property_value: exactMatch https://omim.org/entry/176450 property_value: exactMatch Orphanet:1552 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0008306 name: ABri amyloidosis def: "A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2." [DOID:0070029] subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:97345"} synonym: "ABri amyloidosis" EXACT [GARD:0008344] synonym: "Bri amyloidosis" RELATED [GARD:0008344] synonym: "cerebral amyloid angiopathy, British type" EXACT [DOID:0070029] synonym: "cerebral amyloid angiopathy, ITM2B-RELATED, 1" RELATED [OMIM:176500] synonym: "cerebral amyloid angiopathy, ITM2B-related, type 1" EXACT [MONDORULE:1, OMIM:176500] synonym: "dementia familial British" RELATED [GARD:0008344] synonym: "dementia, familial British" RELATED [OMIM:176500] synonym: "familial British dementia" EXACT [DOID:0070029] synonym: "familial dementia, British type" EXACT [Orphanet:97345] synonym: "FBD" EXACT ABBREVIATION [DOID:0070029, GARD:0008344] synonym: "ITM2B-related cerebral amyloid angiopathy 1" RELATED [DOID:0070029] synonym: "presenile dementia with spastic ataxia" EXACT [DOID:0070029, GARD:0008344, OMIM:176500] xref: DOID:0070029 {source="MONDO:equivalentTo"} xref: ICD10EXP:E85.4+ {source="Orphanet:97345/attributed", source="Orphanet:97345/ntbt", source="Orphanet:97345"} xref: ICD10EXP:I68.0* {source="Orphanet:97345/attributed", source="Orphanet:97345/ntbt", source="Orphanet:97345"} xref: MESH:C538208 {source="Orphanet:97345", source="MONDO:equivalentTo", source="Orphanet:97345/e"} xref: OMIM:176500 {source="Orphanet:97345", source="MONDO:equivalentTo", source="DOID:0070029", source="Orphanet:97345/e", source="GARD:0008344"} xref: Orphanet:97345 {source="MONDO:equivalentTo", source="GARD:0008344", source="OMIM:176500"} xref: UMLS:C1867773 {source="Orphanet:97345", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:97345/e", source="GARD:0008344", source="OMIM:176500"} is_a: EFO:0006790 {source="DC-OMIM:176500", source="DOID:0070029", source="MESH:C538208/inferred"} ! cerebral amyloid angiopathy is_a: MONDO:0018591 {source="Orphanet:97345"} ! ITM2B amyloidosis property_value: exactMatch DOID:0070029 property_value: exactMatch http://identifiers.org/mesh/C538208 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867773 property_value: exactMatch https://omim.org/entry/176500 property_value: exactMatch Orphanet:97345 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8344/dementia-familial-british xsd:anyURI {source="GARD:0008344"} [Term] id: MONDO:0008310 name: Hutchinson-Gilford progeria syndrome def: "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." [Orphanet:740] comment: Editor note: check wether subset prototype_pattern is appropriate subset: clingen subset: gard_rare {source="GARD:0007467"} subset: ordo_disease {source="Orphanet:740"} subset: prototype_pattern synonym: "HGPS" EXACT ABBREVIATION [DOID:3911, MONDO:Lexical, OMIM:176670, Orphanet:740] synonym: "Hutchinson Gilford progeria syndrome" RELATED [GARD:0007467] synonym: "Hutchinson Gilford syndrome" EXACT [DOID:3911] synonym: "Hutchinson-Gilford disease" EXACT [DOID:3911, NCIT:C34951] synonym: "Hutchinson-Gilford progeria" EXACT [OMIM:176670, OMIM:genemap2] synonym: "Hutchinson-Gilford progeria syndrome" EXACT [DOID:3911, MONDO:Lexical, OMIM:176670] synonym: "premature senility syndrome" EXACT [NCIT:C34951] synonym: "progeria" BROAD [OMIM:176670, Orphanet:740] synonym: "progeria syndrome, childhood-onset" RELATED [OMIM:176670] xref: DOID:3911 {source="MONDO:equivalentTo"} xref: ICD9:259.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10036794 {source="Orphanet:740/e", source="Orphanet:740"} xref: NCIT:C34951 {source="MONDO:equivalentTo", source="DOID:3911"} xref: OMIM:176670 {source="Orphanet:740/e", source="MONDO:equivalentTo", source="DOID:3911", source="Orphanet:740"} xref: Orphanet:740 {source="MONDO:equivalentTo", source="OMIM:176670"} xref: SCTID:238870004 {source="MONDO:equivalentTo", source="DOID:3911"} xref: UMLS:C0033300 {source="Orphanet:740/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:176670", source="DOID:3911", source="NCIT:C34951", source="Orphanet:740"} xref: UMLS:CN236401 {source="MONDO:equivalentTo"} is_a: EFO:1000017 {source="DOID:3911", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0002254 {source="NCIT:C34951"} ! syndromic disease is_a: MONDO:0019707 {source="Orphanet:740", source="PMID:31633310"} ! primary osteolysis is_a: MONDO:0020732 {source="MONDO:OMIMPS"} ! progeria is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy property_value: closeMatch http://identifiers.org/meddra/10036794 property_value: exactMatch DOID:3911 property_value: exactMatch http://identifiers.org/snomedct/238870004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033300 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN236401 property_value: exactMatch https://omim.org/entry/176670 property_value: exactMatch NCIT:C34951 property_value: exactMatch Orphanet:740 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5537 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7467/progeria xsd:anyURI {source="GARD:0007467"} [Term] id: MONDO:0008311 name: progeria-short stature-pigmented nevi syndrome def: "Progeria-short stature-pigmented nevi is a progeroid disorder characterized by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat." [Orphanet:2959] subset: ordo_malformation_syndrome {source="Orphanet:2959"} synonym: "Mulvihill-Smith syndrome" EXACT [OMIM:176690, Orphanet:2959] synonym: "progeroid short stature with pigmented nevi" RELATED [OMIM:176690] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536422 {source="Orphanet:2959/e", source="MONDO:equivalentTo", source="Orphanet:2959"} xref: OMIM:176690 {source="Orphanet:2959/e", source="MONDO:equivalentTo", source="Orphanet:2959"} xref: Orphanet:2959 {source="OMIM:176690", source="MONDO:equivalentTo"} xref: SCTID:399947002 {source="MONDO:equivalentTo"} xref: UMLS:C1261128 {source="Orphanet:2959/e", source="OMIM:176690", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2959"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: exactMatch http://identifiers.org/mesh/C536422 property_value: exactMatch http://identifiers.org/snomedct/399947002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1261128 property_value: exactMatch https://omim.org/entry/176690 property_value: exactMatch Orphanet:2959 property_value: excluded_subClassOf MONDO:0015333 {source="Orphanet:2959"} property_value: excluded_subClassOf MONDO:0019303 {source="Orphanet:2959"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1567 xsd:anyURI [Term] id: MONDO:0008312 name: autosomal dominant prognathism def: "Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion)." [MESH:D008313] subset: ordo_malformation_syndrome {source="Orphanet:2964"} synonym: "'Habsburg jaw'" RELATED [OMIM:176700] synonym: "'Hapsburg jaw'" RELATED [OMIM:176700] synonym: "Habsburg jaw" RELATED [GARD:0010319] synonym: "Hapsburg jaw" RELATED [GARD:0010319] synonym: "prognathism mandibular" RELATED [GARD:0010319] synonym: "prognathism, mandibular" RELATED [OMIM:176700] xref: MESH:D008313 {source="MONDO:equivalentTo"} xref: OMIM:176700 {source="MONDO:equivalentTo", source="Orphanet:2964", source="Orphanet:2964/e"} xref: Orphanet:2964 {source="MONDO:equivalentTo", source="OMIM:176700"} xref: UMLS:CN203311 {source="MONDO:equivalentTo"} is_a: MONDO:0015161 {source="Orphanet:2964"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/D008313 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203311 property_value: exactMatch https://omim.org/entry/176700 property_value: exactMatch Orphanet:2964 [Term] id: MONDO:0008315 name: prostate cancer def: "A primary or metastatic malignant tumor involving the prostate gland. The vast majority are carcinomas." [NCIT:C7378] subset: ordo_disease {source="Orphanet:1331"} synonym: "cancer of prostate gland" EXACT [MONDO:patterns/cancer] synonym: "hereditary prostate cancer" NARROW [DOID:10283] synonym: "malignant neoplasm of prostate" EXACT [NCIT:C7378] synonym: "malignant neoplasm of prostate gland" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the prostate" EXACT [NCIT:C7378] synonym: "malignant prostate gland neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant prostate neoplasm" EXACT [NCIT:C7378] synonym: "malignant prostate tumor" EXACT [NCIT:C7378] synonym: "malignant prostate tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of prostate" EXACT [NCIT:C7378] synonym: "malignant tumor of the prostate" EXACT [DOID:10283, NCIT:C7378] synonym: "malignant tumour of prostate" EXACT OMO:0003005 [] synonym: "malignant tumour of the prostate" EXACT OMO:0003005 [] synonym: "NGP - new growth of prostate" EXACT [DOID:10283] synonym: "prostate cancer, familial" NARROW [DOID:10283, MESH:C537243] synonym: "prostate gland cancer" EXACT [MONDO:patterns/location] synonym: "prostate neoplasm" BROAD [DOID:10283] synonym: "prostatic cancer" EXACT [DOID:10283] synonym: "prostatic neoplasm" BROAD [DOID:10283] synonym: "tumor of the prostate" BROAD [DOID:10283, NCIT:C3343] synonym: "tumour of the prostate" BROAD OMO:0003005 [] xref: DOID:10283 {source="MONDO:equivalentTo"} xref: ICD9:185 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10283"} xref: MESH:D011471 {source="MONDO:equivalentTo", source="DOID:10283"} xref: NCIT:C7378 {source="MONDO:equivalentTo", source="DOID:10283"} xref: SCTID:399068003 {source="MONDO:equivalentTo", source="DOID:10283"} xref: UMLS:C0376358 {source="NCIT:C7378", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:176807", source="DOID:10283"} is_a: EFO:0007355 {source="DOID:10283", source="NCIT:C7378"} ! male reproductive organ cancer is_a: MONDO:0021259 {source="MONDO:Redundant", source="NCIT:C7378"} ! prostate neoplasm property_value: exactMatch DOID:10283 property_value: exactMatch http://identifiers.org/mesh/D011471 property_value: exactMatch http://identifiers.org/snomedct/399068003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0376358 property_value: exactMatch NCIT:C7378 property_value: excluded_subClassOf MONDO:0017130 {source="Orphanet:1331"} property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0008318 name: Proteus syndrome def: "Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems." [Orphanet:744] subset: ordo_malformation_syndrome {source="Orphanet:744"} synonym: "Elattoproteus syndrome" RELATED [GARD:0000170, MESH:C537716, OMIM:176920] synonym: "gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly" RELATED [GARD:0000170, MESH:C537716, OMIM:176920] synonym: "hemihypertrophy and macrocephaly" RELATED [MESH:C537716] synonym: "partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly" RELATED [MESH:C537716] synonym: "partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome" EXACT [Orphanet:744] synonym: "Proteus syndrome" EXACT [OMIM:176920] synonym: "proteus syndrome, somatic" EXACT [OMIM:176920, OMIM:genemap2] synonym: "Wiedemann's syndrome" EXACT [DOID:13482] xref: DOID:13482 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D016715 {source="Orphanet:744", source="DOID:13482", source="MONDO:equivalentTo", source="Orphanet:744/e"} xref: NCIT:C85032 {source="DOID:13482", source="MONDO:equivalentTo"} xref: OMIM:176920 {source="Orphanet:744", source="DOID:13482", source="MONDO:equivalentTo", source="Orphanet:744/e"} xref: Orphanet:744 {source="MONDO:equivalentTo", source="OMIM:176920"} xref: SCTID:23150001 {source="DOID:13482", source="MONDO:equivalentTo"} xref: UMLS:C0085261 {source="Orphanet:744", source="DOID:13482", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:744/e", source="NCIT:C85032", source="OMIM:176920"} is_a: MONDO:0016229 {source="MONDO:Entailed", source="Orphanet:744", source="Orphanet:744/inferred"} ! hereditary vascular anomaly is_a: MONDO:0017623 {source="Orphanet:744"} ! PTEN hamartoma tumor syndrome is_a: MONDO:0019716 {source="Orphanet:744"} ! overgrowth syndrome is_a: MONDO:0800091 {source="PMID:31633310"} ! overgrowth or tall stature syndrome with skeletal involvement property_value: exactMatch DOID:13482 property_value: exactMatch http://identifiers.org/mesh/D016715 property_value: exactMatch http://identifiers.org/snomedct/23150001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085261 property_value: exactMatch https://omim.org/entry/176920 property_value: exactMatch NCIT:C85032 property_value: exactMatch Orphanet:744 property_value: excluded_subClassOf MONDO:0015501 {source="Orphanet:744"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0008322 name: pseudoachondroplasia def: "Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis." [Orphanet:750] subset: gard_rare {source="GARD:0004540"} subset: ordo_disease {source="Orphanet:750"} synonym: "PSACH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:177170] synonym: "pseudoachondroplasia" EXACT [DOID:0080047, MONDO:Lexical, OMIM:177170] synonym: "Pseudoachondroplastic dysplasia" EXACT [OMIM:177170, Orphanet:750] synonym: "pseudoachondroplastic dysplasia" EXACT [DOID:0080047] synonym: "Pseudoachondroplastic spondyloepiphyseal dysplasia" EXACT [Orphanet:750] synonym: "Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome" RELATED [GARD:0004540] synonym: "spondyloepiphyseal dysplasia, PSEUDOACHONDROPLASTIC" EXACT [DOID:0080047] synonym: "spondyloepiphyseal dysplasia, Pseudoachondroplastic" RELATED [OMIM:177170] xref: DOID:0080047 {source="MONDO:equivalentTo"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535819 {source="Orphanet:750/e", source="MONDO:equivalentTo", source="Orphanet:750"} xref: NCIT:C118635 {source="MONDO:equivalentTo"} xref: OMIM:177170 {source="Orphanet:750/e", source="MONDO:equivalentTo", source="DOID:0080047", source="Orphanet:750"} xref: Orphanet:750 {source="OMIM:177170", source="MONDO:equivalentTo"} xref: SCTID:22567005 {source="MONDO:equivalentTo"} xref: UMLS:C0410538 {source="OMIM:177170", source="Orphanet:750/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C118635", source="Orphanet:750"} is_a: EFO:0005571 {source="DOID:0080047", source="MESH:C535819/inferred"} ! osteochondrodysplasia is_a: MONDO:0019692 {source="Orphanet:750", source="PMID:31633310"} ! multiple epiphyseal dysplasia and pseudoachondroplasia property_value: exactMatch DOID:0080047 property_value: exactMatch http://identifiers.org/mesh/C535819 property_value: exactMatch http://identifiers.org/snomedct/22567005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0410538 property_value: exactMatch https://omim.org/entry/177170 property_value: exactMatch NCIT:C118635 property_value: exactMatch Orphanet:750 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4540/pseudoachondroplasia xsd:anyURI {source="GARD:0004540"} [Term] id: MONDO:0008323 name: Liddle syndrome def: "A rare genetic form of low-renin hypertension characterized by hypertension associated with decreased plasma levels of potassium and aldosterone." [Orphanet:526] subset: gard_rare {source="GARD:0007381"} subset: ordo_disease {source="Orphanet:526"} synonym: "Liddle syndrome" EXACT [MONDO:Lexical, OMIM:177200] synonym: "Liddle's syndrome" EXACT [DOID:0050477] synonym: "LIDLS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:177200] synonym: "pseudoaldosteronism" EXACT [DOID:0050477, OMIM:177200, Orphanet:526] synonym: "pseudohyperaldosteronism type 1" NARROW [Orphanet:526] xref: DOID:0050477 {source="MONDO:equivalentTo"} xref: MedDRA:10037113 {source="Orphanet:526", source="Orphanet:526/e"} xref: MedDRA:10052313 {source="Orphanet:526", source="Orphanet:526/e"} xref: MESH:D056929 {source="Orphanet:526", source="DOID:0050477", source="MONDO:equivalentTo", source="Orphanet:526/e"} xref: NCIT:C84827 {source="DOID:0050477", source="MONDO:equivalentTo"} xref: OMIMPS:177200 {source="MONDO:equivalentTo"} xref: Orphanet:526 {source="MONDO:equivalentTo", source="OMIM:177200"} xref: SCTID:707747007 {source="MONDO:equivalentTo"} xref: UMLS:C0221043 {source="Orphanet:526", source="DOID:0050477", source="MONDO:equivalentTo", source="NCIT:C84827", source="MONDO:ncbi_mim2gene_medline", source="OMIM:177200", source="Orphanet:526/e"} is_a: EFO:1000647 {source="DOID:0050477", source="MESH:D056929"} ! renal tubular transport disease is_a: MONDO:0002254 {source="NCIT:C84827"} ! syndromic disease is_a: MONDO:0100191 ! inherited kidney disorder property_value: closeMatch http://identifiers.org/meddra/10037113 property_value: closeMatch http://identifiers.org/meddra/10052313 property_value: exactMatch DOID:0050477 property_value: exactMatch http://identifiers.org/mesh/D056929 property_value: exactMatch http://identifiers.org/snomedct/707747007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221043 property_value: exactMatch https://omim.org/phenotypicSeries/PS177200 property_value: exactMatch NCIT:C84827 property_value: exactMatch Orphanet:526 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7381/liddle-syndrome xsd:anyURI {source="GARD:0007381"} [Term] id: MONDO:0008329 name: autosomal dominant pseudohypoaldosteronism type 1 def: "Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney." [Orphanet:171871] subset: gard_rare {source="GARD:0009145"} subset: ordo_clinical_subtype {source="Orphanet:171871"} synonym: "autosomal dominant PHA 1" EXACT [DOID:0060855] synonym: "autosomal dominant pseudohypoaldosteronism type 1" EXACT [Orphanet:171871] synonym: "PHA I, autosomal dominant" RELATED [OMIM:177735] synonym: "PHA1A" EXACT ABBREVIATION [DOID:0060855, MONDO:Lexical, OMIM:177735] synonym: "pseudohypoaldosteronism type 1 autosomal dominant" RELATED [GARD:0009145] synonym: "pseudohypoaldosteronism type 1, dominant" RELATED [GARD:0009145] synonym: "pseudohypoaldosteronism type i, autosomal dominant" EXACT [OMIM:177735, OMIM:genemap2] synonym: "pseudohypoaldosteronism, type I, autosomal dominant" RELATED [MONDO:Lexical, OMIM:177735] synonym: "renal PHA1" RELATED [GARD:0009145] synonym: "renal pseudohypoaldosteronism type 1" RELATED [GARD:0009145] xref: DOID:0060855 {source="MONDO:equivalentTo"} xref: NCIT:C126810 {source="MONDO:equivalentTo"} xref: OMIM:177735 {source="MONDO:equivalentTo", source="DOID:0060855", source="Orphanet:171871", source="Orphanet:171871/e"} xref: Orphanet:171871 {source="MONDO:equivalentTo", source="OMIM:177735"} xref: UMLS:C1449842 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:171871", source="OMIM:177735"} is_a: MONDO:0019161 {source="Orphanet:171871"} ! pseudohypoaldosteronism type 1 property_value: exactMatch DOID:0060855 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1449842 property_value: exactMatch https://omim.org/entry/177735 property_value: exactMatch NCIT:C126810 property_value: exactMatch Orphanet:171871 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9145/autosomal-dominant-pseudohypoaldosteronism-type-1 xsd:anyURI {source="GARD:0009145"} [Term] id: MONDO:0008332 name: platelet-type von Willebrand disease def: "A bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia." [https://orcid.org/0000-0001-5208-3432, Orphanet:52530] comment: Editor note: check relationship to vWD subset: ordo_disease {source="Orphanet:52530"} synonym: "BDPLT3" EXACT ABBREVIATION [DOID:0111056] synonym: "bleeding disorder, Platelet-type, 3" RELATED [OMIM:177820] synonym: "platelet type-von Willebrand disease" EXACT [DOID:0111056, https://orcid.org/0000-0002-7437-8060, Orphanet:52530] synonym: "platelet-type bleeding disorder 3" RELATED [DOID:0111056] synonym: "platelet-type von Willebrand disease" EXACT [NCIT:C131681] synonym: "pseudo-VON WILLEBRAND disease" RELATED [OMIM:177820] synonym: "pseudo-von Willebrand disease" EXACT [DOID:0111056, MONDO:Lexical, OMIM:177820] synonym: "pseudo-von Willebrand disease type 2B" EXACT [Orphanet:52530] synonym: "PT-VWD" EXACT [DOID:0111056, Orphanet:52530] synonym: "von Willebrand disease platelet-type" EXACT [DOID:0111056] synonym: "Von Willebrand disease, platelet type" RELATED [GARD:0008312] synonym: "Von Willebrand disease, Platelet-type" RELATED [OMIM:177820] synonym: "VWDP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:177820] xref: DOID:0111056 {source="MONDO:equivalentTo"} xref: MESH:C536458 {source="MONDO:equivalentTo"} xref: NCIT:C131681 {source="MONDO:equivalentTo"} xref: OMIM:177820 {source="Orphanet:52530", source="MONDO:equivalentTo", source="Orphanet:52530/e", source="DOID:0111056"} xref: Orphanet:52530 {source="MONDO:equivalentTo", source="DOID:0111056", source="OMIM:177820"} is_a: MONDO:0000009 {source="DC-OMIM:177820", source="MONDO:0017142-obsoleted", source="MONDO:Redundant", source="OMIM:177820"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0019565 {source="MONDO:Redundant", source="NCIT:C131681"} ! hereditary von Willebrand disease property_value: exactMatch DOID:0111056 property_value: exactMatch http://identifiers.org/mesh/C536458 property_value: exactMatch https://omim.org/entry/177820 property_value: exactMatch NCIT:C131681 property_value: exactMatch Orphanet:52530 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5623 xsd:anyURI [Term] id: MONDO:0008335 name: short stature-craniofacial anomalies-genital hypoplasia syndrome def: "Short stature-craniofacial anomalies-genital hypoplasia syndrome is characterized by the association of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less than 20 cases have been described so far. The mode of transmission is likely to be autosomal dominant with incomplete penetrance. The syndrome is caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p." [Orphanet:2994] subset: ordo_malformation_syndrome {source="Orphanet:2994"} synonym: "Haspeslagh syndrome" RELATED [OMIM:177980] synonym: "Haspeslagh-Fryns-Muelenaere syndrome" EXACT [Orphanet:2994] synonym: "pterygia intellectual disability facial dysmorphism" RELATED [GARD:0002605] synonym: "pterygia mental retardation facial dysmorphism" RELATED DEPRECATED [GARD:0002605] synonym: "pterygia, intellectual disability and distinctive craniofacial features" RELATED [GARD:0002605] synonym: "pterygia, intellectual disability, and distinctive craniofacial features" RELATED [OMIM:177980] synonym: "pterygia, mental retardation and distinctive craniofacial features" RELATED DEPRECATED [GARD:0002605] synonym: "pterygia, mental retardation, and distinctive craniofacial features" RELATED DEPRECATED [OMIM:177980] xref: MESH:C535844 {source="MONDO:equivalentTo"} xref: OMIM:177980 {source="Orphanet:2994", source="MONDO:equivalentTo", source="Orphanet:2994/e"} xref: Orphanet:2994 {source="MONDO:equivalentTo", source="OMIM:177980"} xref: SCTID:716090004 {source="MONDO:equivalentTo"} xref: UMLS:C1867443 {source="Orphanet:2994", source="MONDO:equivalentTo", source="OMIM:177980", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2994/e"} is_a: MONDO:0015161 {source="Orphanet:2994"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C535844 property_value: exactMatch http://identifiers.org/snomedct/716090004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867443 property_value: exactMatch https://omim.org/entry/177980 property_value: exactMatch Orphanet:2994 [Term] id: MONDO:0008337 name: familial pterygium of the conjunctiva def: "Familial pterygium of the conjunctiva is a rare form of pterygium, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision." [Orphanet:2989] subset: ordo_morphological_anomaly {source="Orphanet:2989"} synonym: "pterygium of conjunctiva and cornea" RELATED [OMIM:178000] synonym: "pterygium of the conjunctiva and cornea" RELATED [GARD:0004569] xref: ICD10CM:H11.0 {source="Orphanet:2989/attributed", source="Orphanet:2989/ntbt", source="Orphanet:2989", source="MONDO:directSiblingOf"} xref: MESH:C566740 {source="MONDO:equivalentTo"} xref: OMIM:178000 {source="Orphanet:2989/e", source="MONDO:equivalentTo", source="Orphanet:2989"} xref: Orphanet:2989 {source="OMIM:178000", source="MONDO:equivalentTo"} xref: UMLS:C1867441 {source="OMIM:178000", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0000678 ! pterygium intersection_of: EFO:0000678 ! pterygium intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/mesh/C566740 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867441 property_value: exactMatch https://omim.org/entry/178000 property_value: exactMatch Orphanet:2989 [Term] id: MONDO:0008338 name: contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A subset: gard_rare {source="GARD:0013058"} subset: ordo_malformation_syndrome {source="Orphanet:65743"} synonym: "arthrogryposis, distal, type 8" RELATED [MONDO:Lexical, OMIM:178110] synonym: "contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A" EXACT [OMIM:178110, OMIM:genemap2] synonym: "DA8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:178110] synonym: "distal arthrogryposis type 8" EXACT [Orphanet:65743] synonym: "multiple pterygium syndrome, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:178110] synonym: "pterygium syndrome, multiple, autosomal dominant" RELATED [OMIM:178110] xref: DOID:0081321 {source="MONDO:equivalentTo"} xref: MESH:C566739 {source="MONDO:equivalentTo"} xref: OMIM:178110 {source="Orphanet:65743", source="MONDO:equivalentTo", source="Orphanet:65743/e"} xref: Orphanet:65743 {source="OMIM:178110", source="MONDO:equivalentTo"} xref: UMLS:C1867440 {source="Orphanet:65743", source="OMIM:178110", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0019942 {source="DC-OMIM:178110", source="Orphanet:65743"} ! distal arthrogryposis is_a: MONDO:0020937 {source="MONDO:cjm"} ! contractures, pterygia, and variable skeletal fusions syndrome property_value: exactMatch DOID:0081321 property_value: exactMatch http://identifiers.org/mesh/C566739 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867440 property_value: exactMatch https://omim.org/entry/178110 property_value: exactMatch Orphanet:65743 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13058/autosomal-dominant-multiple-pterygium-syndrome xsd:anyURI {source="GARD:0013058"} [Term] id: MONDO:0008339 name: antecubital pterygium syndrome subset: clingen subset: ordo_malformation_syndrome {source="Orphanet:2987"} synonym: "antecubital pterygium" RELATED [GARD:0004570] synonym: "antecubital pterygium syndrome" EXACT [] synonym: "pterygium antecubital" RELATED [GARD:0004570] synonym: "pterygium, antecubital" RELATED [OMIM:178200] xref: MESH:C566738 {source="MONDO:equivalentTo"} xref: OMIM:178200 {source="MONDO:equivalentTo", source="Orphanet:2987", source="Orphanet:2987/e"} xref: Orphanet:2987 {source="MONDO:equivalentTo", source="OMIM:178200"} xref: UMLS:C1867439 {source="MONDO:equivalentTo", source="OMIM:178200", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2987"} is_a: MONDO:0021154 {source="Orphanet:2987"} ! dermis disorder property_value: exactMatch http://identifiers.org/mesh/C566738 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867439 property_value: exactMatch https://omim.org/entry/178200 property_value: exactMatch Orphanet:2987 [Term] id: MONDO:0008340 name: ptosis, hereditary congenital, 1 def: "Congenital ptosis is characterized by superior eyelid drop present at birth." [Orphanet:91411] subset: ordo_disease {source="Orphanet:91411"} synonym: "congenital eyelid ptosis" EXACT [NCIT:C27049] synonym: "congenital ptosis" EXACT [MONDO:ambiguous, Orphanet:91411] synonym: "congenital ptosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "PTOS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:178300] synonym: "ptosis, congenital" EXACT [OMIM:178300, OMIM:genemap2] synonym: "ptosis, hereditary congenital 1" RELATED [MONDO:Lexical, OMIM:178300] synonym: "ptosis, hereditary congenital, 1" EXACT [OMIM:178300, OMIM:genemap2] xref: DOID:0060261 {source="MONDO:equivalentTo"} xref: HP:0007970 {source="MONDO:otherHierarchy", source="DOID:0060261"} xref: ICD9:743.61 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:0060261"} xref: MedDRA:10015996 {source="Orphanet:91411", source="Orphanet:91411/e"} xref: MESH:C566737 {source="MONDO:equivalentTo"} xref: NCIT:C27049 {source="MONDO:equivalentTo", source="DOID:0060261"} xref: OMIM:178300 {source="MONDO:equivalentTo", source="Orphanet:91411", source="DOID:0060261", source="Orphanet:91411/e"} xref: Orphanet:91411 {source="MONDO:equivalentTo", source="OMIM:178300"} xref: SCTID:268163008 {source="MONDO:equivalentTo", source="DOID:0060261"} is_a: MONDO:0000728 {source="DOID:0060261", source="MESH:C566737", source="NCIT:C27049"} ! ptosis is_a: MONDO:0020158 {source="MONDO:0020169-obsoleted"} ! eyelids malposition disorder property_value: closeMatch http://identifiers.org/meddra/10015996 property_value: exactMatch DOID:0060261 property_value: exactMatch http://identifiers.org/mesh/C566737 property_value: exactMatch http://identifiers.org/snomedct/268163008 property_value: exactMatch https://omim.org/entry/178300 property_value: exactMatch NCIT:C27049 property_value: exactMatch Orphanet:91411 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4810 xsd:anyURI property_value: IAO:0000589 "congenital ptosis (disease)" xsd:string [Term] id: MONDO:0008341 name: ptosis-strabismus-ectopic pupils syndrome def: "Ptosis-strabismus-ectopic pupils syndrome is characterized by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant." [Orphanet:2999] subset: ordo_malformation_syndrome {source="Orphanet:2999"} synonym: "McPherson-Hall syndrome" EXACT [Orphanet:2999] synonym: "ptosis strabismus ectopic pupils" RELATED [GARD:0004577] synonym: "ptosis, strabismus, and ectopic pupils" RELATED [OMIM:178330] xref: MESH:C566736 {source="MONDO:equivalentTo"} xref: OMIM:178330 {source="MONDO:equivalentTo", source="Orphanet:2999", source="Orphanet:2999/e"} xref: Orphanet:2999 {source="OMIM:178330", source="MONDO:equivalentTo"} xref: UMLS:C1867437 {source="OMIM:178330", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2999"} is_a: MONDO:0020158 {source="MONDO:0020169-obsoleted"} ! eyelids malposition disorder property_value: exactMatch http://identifiers.org/mesh/C566736 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867437 property_value: exactMatch https://omim.org/entry/178330 property_value: exactMatch Orphanet:2999 [Term] id: MONDO:0008343 name: pulmonary atresia with ventricular septal defect def: "Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot." [Orphanet:1207] subset: gard_rare {source="GARD:0004588"} subset: ordo_morphological_anomaly {source="Orphanet:1207"} synonym: "pulmonary atresia with ventricular septal defect" EXACT [OMIM:178370] synonym: "pulmonary valve atresia with ventricular septal defect" EXACT [NCIT:C99033] xref: MESH:C562833 {source="MONDO:equivalentTo"} xref: NCIT:C99033 {source="MONDO:equivalentTo"} xref: OMIM:178370 {source="Orphanet:1207/e", source="MONDO:equivalentTo", source="Orphanet:1207"} xref: Orphanet:1207 {source="OMIM:178370", source="MONDO:equivalentTo"} xref: SCTID:253591008 {source="MONDO:equivalentTo"} xref: UMLS:C0344976 {source="OMIM:178370", source="Orphanet:1207/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C99033", source="Orphanet:1207"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: MONDO:0016581 {source="Orphanet:1207"} ! conotruncal heart malformations property_value: exactMatch http://identifiers.org/mesh/C562833 property_value: exactMatch http://identifiers.org/snomedct/253591008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0344976 property_value: exactMatch https://omim.org/entry/178370 property_value: exactMatch NCIT:C99033 property_value: exactMatch Orphanet:1207 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4588/pulmonary-atresia-with-ventricular-septal-defect xsd:anyURI {source="GARD:0004588"} [Term] id: MONDO:0008347 name: idiopathic and/or familial pulmonary arterial hypertension def: "Idiopathic and/or familial pulmonary arterial hypertension (IFPAH) is a form or pulmonary arterial hypertension (PAH, see his term) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. About 75% of heritable pulmonary arterial hypertension (HPAH) have an identified mutation. HPAH has been linked to mutations in BMPR2 in 75% of cases; other genes implicated in HPAH include ACVR1, BMPR1, CAV1, ENG and SMAD9 and CBLN2. (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown." [Orphanet:422] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: obsoletion_candidate subset: ordo_disease {source="Orphanet:422"} synonym: "idiopathic and/or familial pulmonary arterial hypertension" EXACT [] synonym: "IFPAH" EXACT ABBREVIATION [MONDO:cjm] synonym: "PPH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:178600] synonym: "pulmonary hypertension, primary, 1" RELATED [MONDO:Lexical, OMIM:178600] synonym: "pulmonary hypertension, primary, type 1" EXACT [MONDORULE:1, OMIM:178600] xref: Orphanet:422 {source="MONDO:equivalentTo", source="OMIM:178600"} xref: UMLS:CN205068 {source="MONDO:equivalentTo"} is_a: EFO:0001361 {source="Orphanet:422"} ! pulmonary arterial hypertension is_a: MONDO:0001999 {source="DC-OMIM:178600", source="OMIM:178600"} ! primary pulmonary hypertension is_a: MONDO:0700007 ! idiopathic disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205068 property_value: exactMatch Orphanet:422 property_value: excluded_subClassOf MONDO:0015510 {source="Orphanet:422"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0008357 name: radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome def: "A syndrome is characterized by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait." [https://orcid.org/0000-0001-5208-3432, Orphanet:2252] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2252"} synonym: "radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema" EXACT [GARD:0000258] synonym: "radial hypoplasia, triphalangeal thumbs and hypospadias" RELATED [GARD:0004626] synonym: "radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema" EXACT [GARD:0004626, OMIM:179250] synonym: "Schmitt Gillenwater Kelly syndrome" EXACT [GARD:0000258] synonym: "Schmitt-Gillenwater-Kelly syndrome" EXACT [Orphanet:2252] xref: MESH:C536262 {source="MONDO:equivalentTo"} xref: OMIM:179250 {source="Orphanet:2252/e", source="GARD:0004626", source="MONDO:equivalentTo", source="GARD:0000258", source="Orphanet:2252"} xref: Orphanet:2252 {source="OMIM:179250", source="MONDO:equivalentTo"} xref: SCTID:716092007 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:2252"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C536262 property_value: exactMatch http://identifiers.org/snomedct/716092007 property_value: exactMatch https://omim.org/entry/179250 property_value: exactMatch Orphanet:2252 property_value: excluded_subClassOf MONDO:0015620 {source="Orphanet:2252"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5204 xsd:anyURI [Term] id: MONDO:0008359 name: radio-renal syndrome def: "Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983." [Orphanet:3015] subset: gard_rare {source="GARD:0000224"} subset: ordo_malformation_syndrome {source="Orphanet:3015"} synonym: "radial-renal syndrome" RELATED [OMIM:179280] synonym: "radio renal syndrome" RELATED [GARD:0000224] xref: MESH:C536267 {source="Orphanet:3015", source="MONDO:equivalentTo", source="Orphanet:3015/e"} xref: OMIM:179280 {source="Orphanet:3015", source="MONDO:equivalentTo", source="Orphanet:3015/e"} xref: Orphanet:3015 {source="MONDO:equivalentTo", source="OMIM:179280"} xref: SCTID:766765009 {source="MONDO:equivalentTo"} xref: UMLS:C2931146 {source="Orphanet:3015", source="MONDO:equivalentTo", source="Orphanet:3015/e"} is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation property_value: exactMatch http://identifiers.org/mesh/C536267 property_value: exactMatch http://identifiers.org/snomedct/766765009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931146 property_value: exactMatch https://omim.org/entry/179280 property_value: exactMatch Orphanet:3015 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/224/radio-renal-syndrome xsd:anyURI {source="GARD:0000224"} [Term] id: MONDO:0008365 name: recombinant 8 syndrome def: "Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism." [Orphanet:96167] subset: ordo_malformation_syndrome {source="Orphanet:96167"} synonym: "chromosome 8Q22.1-qter Duplication and 8Pter-p23.1 deletion" RELATED [OMIM:179613] synonym: "Duplication 8q/deletion 8p" EXACT [Orphanet:96167] synonym: "Rec(8) syndrome" EXACT [Orphanet:96167] synonym: "Rec8 syndrome" EXACT [OMIM:179613, Orphanet:96167] synonym: "RECOMBINANT chromosome 8 syndrome" RELATED [OMIM:179613] synonym: "Recombinant chromosome 8 syndrome" EXACT [Orphanet:96167] synonym: "San Luis Valley recombinant chromosome 8 syndrome" RELATED [GARD:0009698] synonym: "San Luis Valley syndrome" EXACT [OMIM:179613, Orphanet:96167] xref: MESH:C535296 {source="MONDO:equivalentTo"} xref: OMIM:179613 {source="Orphanet:96167", source="MONDO:equivalentTo", source="Orphanet:96167/e"} xref: Orphanet:96167 {source="MONDO:equivalentTo", source="OMIM:179613"} xref: SCTID:718189004 {source="MONDO:equivalentTo"} xref: UMLS:C0795822 {source="Orphanet:96167", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:179613"} is_a: EFO:0000508 {source="MESH:C535296/inferred", source="Orphanet:96167/inferred"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C535296 property_value: exactMatch http://identifiers.org/snomedct/718189004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795822 property_value: exactMatch https://omim.org/entry/179613 property_value: exactMatch Orphanet:96167 [Term] id: MONDO:0008368 name: autosomal dominant distal renal tubular acidosis def: "Autosomal dominant distal renal tubular acidosis (AD dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia." [Orphanet:93608] subset: ordo_clinical_subtype {source="Orphanet:93608"} synonym: "AD dRTA" EXACT [Orphanet:93608] synonym: "autosomal dominant distal renal tubular acidosis (disease)" EXACT [] synonym: "autosomal dominant SLC4A1-associated distal renal tubular acidosis" RELATED [GARD:0004668] synonym: "distal renal tubular acidosis (disease), autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] synonym: "distal renal tubular acidosis 1" EXACT [OMIM:179800, OMIM:genemap2] synonym: "renal tubular acidosis 1" RELATED [OMIM:179800] synonym: "renal tubular acidosis, distal, autosomal dominant" RELATED [OMIM:179800] synonym: "RTA, classic type" RELATED [OMIM:179800] synonym: "RTA, distal type, autosomal dominant" RELATED [OMIM:179800] synonym: "RTA, gradient type" RELATED [OMIM:179800] xref: OMIM:179800 {source="Orphanet:93608", source="MONDO:equivalentTo", source="Orphanet:93608/e"} xref: Orphanet:93608 {source="MONDO:equivalentTo", source="OMIM:179800"} is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0015827 {source="MONDO:Redundant", source="Orphanet:93608"} ! distal renal tubular acidosis property_value: exactMatch https://omim.org/entry/179800 property_value: exactMatch Orphanet:93608 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008369 name: proximal renal tubular acidosis def: "Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis." [Orphanet:47159] subset: ordo_disease {source="Orphanet:47159"} synonym: "pRTA" EXACT [Orphanet:47159] synonym: "renal tubular acidosis 2" RELATED [OMIM:179830] synonym: "renal tubular acidosis type 2" EXACT [Orphanet:47159] synonym: "renal tubular acidosis, proximal" RELATED [OMIM:179830] synonym: "RTA, proximal type" RELATED [OMIM:179830] synonym: "RTA, rate type" RELATED [OMIM:179830] synonym: "Type 2 renal tubular acidosis" EXACT [https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis] synonym: "Type 2 RTA" EXACT [https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis] xref: ICD9:588.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10037080 {source="Orphanet:47159/e", source="Orphanet:47159"} xref: OMIM:179830 {source="Orphanet:47159/e", source="MONDO:equivalentTo", source="Orphanet:47159"} xref: Orphanet:47159 {source="MONDO:equivalentTo", source="OMIM:179830"} xref: SCTID:24790002 {source="MONDO:equivalentTo"} is_a: MONDO:0001909 {source="DC-OMIM:179830"} ! renal tubular acidosis is_a: MONDO:0017828 {source="Orphanet:47159"} ! primary renal tubular acidosis is_a: MONDO:0019052 ! inborn errors of metabolism property_value: closeMatch http://identifiers.org/meddra/10037080 property_value: exactMatch http://identifiers.org/snomedct/24790002 property_value: exactMatch https://omim.org/entry/179830 property_value: exactMatch Orphanet:47159 [Term] id: MONDO:0008371 name: Dowling-Degos disease def: "A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases." [DOID:0060256, http://en.wikipedia.org/wiki/Reticular_pigmented_anomaly_of_the_flexures, http://ghr.nlm.nih.gov/condition/dowling-degos-disease] subset: ordo_disease {source="Orphanet:79145"} synonym: "dark dot disease" EXACT [DOID:0060256] synonym: "DDD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:179850] synonym: "Dowling-Degos disease 1" RELATED [MONDO:Lexical, OMIM:179850] synonym: "Dowling-Degos disease type 1" EXACT [MONDORULE:1, OMIM:179850] synonym: "Dowling-Degos Kitamura disease" RELATED [GARD:0009775] synonym: "reticular pigment anomaly of flexures" EXACT [DOID:0060256, Orphanet:79145] xref: DOID:0060256 {source="MONDO:equivalentTo"} xref: MedDRA:10068651 {source="Orphanet:79145/e", source="Orphanet:79145"} xref: MESH:C562924 {source="DOID:0060256", source="MONDO:equivalentTo"} xref: Orphanet:79145 {source="DOID:0060256", source="MONDO:equivalentTo", source="OMIM:179850"} xref: SCTID:239133004 {source="DOID:0060256", source="MONDO:directSiblingOf"} is_a: MONDO:0000118 {source="DC-OMIM:179850", source="OMIM:179850"} ! reticulate pigment disorder is_a: MONDO:0017747 {source="Orphanet:79145"} ! disorder of fucoglycosan synthesis is_a: MONDO:0019289 {source="Orphanet:79145"} ! hyperpigmentation of the skin relationship: has_characteristic MONDO:0021136 ! rare property_value: closeMatch http://identifiers.org/meddra/10068651 property_value: exactMatch DOID:0060256 property_value: exactMatch http://identifiers.org/mesh/C562924 property_value: exactMatch Orphanet:79145 [Term] id: MONDO:0008373 name: retinal arterial tortuosity subset: ordo_disease {source="Orphanet:75326"} synonym: "RATOR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:180000] synonym: "retinal arterial tortuosity" EXACT [MONDO:ambiguous] synonym: "retinal arterial tortuosity (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "retinal arteries, tortuosity OF" RELATED [MONDO:Lexical, OMIM:180000] synonym: "retinal arteriolar tortuosity" EXACT [Orphanet:75326] synonym: "retinal haemorrhage with vascular tortuosity" EXACT OMO:0003005 [] synonym: "retinal hemorrhage with vascular tortuosity" EXACT [OMIM:180000, Orphanet:75326] synonym: "tortuosity of retinal arteries" EXACT [Orphanet:75326] xref: DOID:0111547 {source="MONDO:equivalentTo"} xref: HP:0001136 {source="MONDO:otherHierarchy"} xref: OMIM:180000 {source="Orphanet:75326", source="MONDO:equivalentTo", source="Orphanet:75326/e"} xref: Orphanet:75326 {source="MONDO:equivalentTo", source="OMIM:180000"} is_a: MONDO:0000473 {source="DOID:0111547"} ! arterial disorder property_value: exactMatch DOID:0111547 property_value: exactMatch https://omim.org/entry/180000 property_value: exactMatch Orphanet:75326 property_value: IAO:0000589 "retinal arterial tortuosity (disease)" xsd:string [Term] id: MONDO:0008380 name: retinoblastoma def: "A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma." [NCIT:C7541] subset: ordo_disease {source="Orphanet:790"} synonym: "eye cancer, retinoblastoma" RELATED [GARD:0007563] synonym: "RB" EXACT ABBREVIATION [DOID:768, NCIT:C7541] synonym: "Rb" RELATED [OMIM:180200] synonym: "RB - retinoblastoma" EXACT [DOID:768] synonym: "RB1" NARROW ABBREVIATION [MONDO:Lexical, OMIM:180200] synonym: "retinoblastoma" EXACT [MONDO:Lexical, OMIM:180200] synonym: "retinoblastoma, malignant" EXACT [NCIT:C7541] xref: DOID:768 {source="MONDO:equivalentTo"} xref: ICDO:9510/3 {source="NCIT:C7541"} xref: MedDRA:10038916 {source="Orphanet:790/e", source="Orphanet:790"} xref: MESH:D012175 {source="Orphanet:790/e", source="DOID:768", source="MONDO:equivalentTo", source="Orphanet:790"} xref: NCIT:C6956 {source="MONDO:relatedTo", source="DOID:768"} xref: NCIT:C7541 {source="DOID:768", source="MONDO:equivalentTo"} xref: ONCOTREE:RBL {source="MONDO:equivalentTo"} xref: Orphanet:790 {source="OMIM:180200", source="MONDO:equivalentTo"} xref: SCTID:370967009 {source="DOID:768", source="MONDO:equivalentTo"} xref: UMLS:C0035335 {source="Orphanet:790/e", source="NCIT:C7541", source="DOID:768", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:790"} is_a: MONDO:0004338 {source="DOID:768", source="MONDO:Entailed", source="MONDO:Redundant"} ! retinal cell cancer property_value: closeMatch http://identifiers.org/meddra/10038916 property_value: exactMatch DOID:768 property_value: exactMatch http://identifiers.org/mesh/D012175 property_value: exactMatch http://identifiers.org/snomedct/370967009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035335 property_value: exactMatch NCIT:C7541 property_value: exactMatch Orphanet:790 property_value: excluded_subClassOf MONDO:0015966 {source="Orphanet:790"} property_value: excluded_subClassOf MONDO:0020238 {source="Orphanet:790"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2760#issuecomment-894549526 xsd:anyURI [Term] id: MONDO:0008387 name: ring dermoid of cornea def: "Ring dermoid of cornea is characterized by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition." [Orphanet:91481] subset: gard_rare {source="GARD:0009696"} subset: ordo_disease {source="Orphanet:91481"} synonym: "bilateral, annular limbal dermoids with corneal and conjunctival extension" RELATED [GARD:0009696] synonym: "RDC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:180550] synonym: "RING dermoid of cornea" RELATED [OMIM:180550] synonym: "ring dermoid of cornea" EXACT [MONDO:Lexical, OMIM:180550] synonym: "Ring dermoid syndrome" EXACT [Orphanet:91481] xref: DOID:0111548 {source="MONDO:equivalentTo"} xref: MESH:C535684 {source="Orphanet:91481", source="MONDO:equivalentTo", source="Orphanet:91481/e"} xref: OMIM:180550 {source="Orphanet:91481", source="MONDO:equivalentTo", source="Orphanet:91481/e"} xref: Orphanet:91481 {source="MONDO:equivalentTo", source="OMIM:180550"} xref: SCTID:723499000 {source="MONDO:equivalentTo"} xref: UMLS:C1867155 {source="Orphanet:91481", source="MONDO:equivalentTo", source="Orphanet:91481/e", source="MONDO:ncbi_mim2gene_medline", source="OMIM:180550"} is_a: EFO:0003824 {source="MONDO:Entailed", source="Orphanet:91481"} ! eye neoplasm relationship: has_characteristic MONDO:0021136 {source="MONDO:0015121"} ! rare property_value: exactMatch DOID:0111548 property_value: exactMatch http://identifiers.org/mesh/C535684 property_value: exactMatch http://identifiers.org/snomedct/723499000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867155 property_value: exactMatch https://omim.org/entry/180550 property_value: exactMatch Orphanet:91481 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9696/ring-dermoid-of-cornea xsd:anyURI {source="GARD:0009696"} [Term] id: MONDO:0008388 name: ringed hair disease def: "Pili annulati is an isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or very rarely beard, axillary, or pubic hair, that is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases." [Orphanet:169] subset: ordo_disease {source="Orphanet:169"} synonym: "pili annulati" EXACT [OMIM:180600, Orphanet:169] synonym: "ringed hair" RELATED [OMIM:180600] xref: MESH:C537187 {source="Orphanet:169", source="MONDO:equivalentTo", source="Orphanet:169/e"} xref: OMIM:180600 {source="Orphanet:169", source="MONDO:equivalentTo", source="Orphanet:169/e"} xref: Orphanet:169 {source="OMIM:180600", source="MONDO:equivalentTo"} xref: SCTID:21926007 {source="MONDO:equivalentTo"} xref: UMLS:C0263489 {source="Orphanet:169", source="OMIM:180600", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:169/e"} is_a: MONDO:0019281 {source="Orphanet:169"} ! isolated genetic hair shaft abnormality property_value: exactMatch http://identifiers.org/mesh/C537187 property_value: exactMatch http://identifiers.org/snomedct/21926007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263489 property_value: exactMatch https://omim.org/entry/180600 property_value: exactMatch Orphanet:169 [Term] id: MONDO:0008389 name: autosomal dominant Robinow syndrome def: "Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia." [Orphanet:3107] subset: ordo_clinical_subtype {source="Orphanet:3107"} synonym: "autosomal dominant Robinow syndrome" EXACT [Orphanet:3107] synonym: "Robinow syndrome, autosomal dominant" EXACT [MONDO:design_pattern, MONDO:patterns/autosomal_dominant] synonym: "Robinow syndrome, autosomal dominant type" EXACT [MONDORULE:1] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:3107 {source="OMIM:180700", source="MONDO:equivalentTo", source="DOID:0060766"} xref: SCTID:76520005 {source="MONDO:equivalentTo"} xref: UMLS:CN203673 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0019978 {source="DC-OMIM:180700", source="DOID:0060766", source="MONDO:Redundant", source="OMIM:180700", source="Orphanet:3107"} ! Robinow syndrome property_value: exactMatch http://identifiers.org/snomedct/76520005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203673 property_value: exactMatch Orphanet:3107 [Term] id: MONDO:0008390 name: Rombo syndrome def: "Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas." [Orphanet:3110] subset: gard_rare {source="GARD:0004738"} subset: ordo_disease {source="Orphanet:3110"} synonym: "Rombo syndrome" EXACT [OMIM:180730] synonym: "vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis" RELATED [GARD:0004738] xref: MESH:C535870 {source="Orphanet:3110/e", source="MONDO:equivalentTo", source="Orphanet:3110"} xref: OMIM:180730 {source="Orphanet:3110/e", source="MONDO:equivalentTo", source="Orphanet:3110"} xref: Orphanet:3110 {source="OMIM:180730", source="MONDO:equivalentTo"} xref: SCTID:721904001 {source="MONDO:equivalentTo"} xref: UMLS:C1867147 {source="OMIM:180730", source="Orphanet:3110/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3110"} is_a: MONDO:0015950 {source="Orphanet:3110"} ! inherited skin tumor property_value: exactMatch http://identifiers.org/mesh/C535870 property_value: exactMatch http://identifiers.org/snomedct/721904001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867147 property_value: exactMatch https://omim.org/entry/180730 property_value: exactMatch Orphanet:3110 property_value: excluded_subClassOf MONDO:0019300 {source="Orphanet:3110"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4738/rombo-syndrome xsd:anyURI {source="GARD:0004738"} [Term] id: MONDO:0008392 name: Roussy-Levy syndrome subset: ordo_disease {source="Orphanet:3115"} synonym: "Charcot-Marie-Tooth disease (variant)" RELATED [GARD:0004741] synonym: "Charcot-Marie-Tooth-Roussy-levy disease" RELATED [GARD:0004741] synonym: "hereditary areflexic dystasia" RELATED [GARD:0004741] synonym: "hereditary areflexic dystasia, Roussy-levy type" EXACT [Orphanet:3115] synonym: "hereditary areflexic dystasia, Roussy-Lévy type" EXACT [Orphanet:3115] synonym: "hereditary motor sensory neuropathy I" RELATED [GARD:0004741] synonym: "HMSN I" RELATED [GARD:0004741] synonym: "Roussy levy hereditary areflexic dystasia" RELATED [GARD:0004741] synonym: "Roussy levy syndrome" RELATED [GARD:0004741] synonym: "Roussy-levy disease" RELATED [GARD:0004741] synonym: "Roussy-levy hereditary areflexic dystasia" RELATED [OMIM:180800] synonym: "Roussy-levy syndrome" EXACT [OMIM:180800] synonym: "Roussy-Lévy syndrome" RELATED [Orphanet:3115] xref: ICD9:334.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:180800 {source="Orphanet:3115", source="MONDO:equivalentTo", source="Orphanet:3115/e"} xref: Orphanet:3115 {source="MONDO:equivalentTo", source="OMIM:180800"} xref: SCTID:45853006 {source="MONDO:equivalentTo"} is_a: MONDO:0015359 {source="Orphanet:3115"} ! autosomal dominant hereditary demyelinating motor and sensory neuropathy property_value: exactMatch http://identifiers.org/snomedct/45853006 property_value: exactMatch https://omim.org/entry/180800 property_value: exactMatch Orphanet:3115 [Term] id: MONDO:0008393 name: Rubinstein-Taybi syndrome due to CREBBP mutations def: "Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_clinical_subtype {source="Orphanet:353277"} synonym: "broad thumb-hallux syndrome" RELATED [OMIM:180849] synonym: "broad thumbs and great toes, characteristic facies, and intellectual disability" RELATED [OMIM:180849] synonym: "broad thumbs and great toes, characteristic facies, and mental retardation" RELATED DEPRECATED [OMIM:180849] synonym: "CREBBP Rubinstein-Taybi syndrome" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "RSTS" RELATED ABBREVIATION [OMIM:180849] synonym: "RSTS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:180849] synonym: "Rubinstein syndrome" RELATED [OMIM:180849] synonym: "Rubinstein-Taybi syndrome 1" EXACT [MONDO:Lexical, OMIM:180849] synonym: "Rubinstein-Taybi syndrome caused by mutation in CREBBP" EXACT [] synonym: "Rubinstein-Taybi syndrome due to CREBBP mutations" EXACT [] synonym: "Rubinstein-Taybi syndrome type 1" EXACT [MONDORULE:1, OMIM:180849] xref: NCIT:C153290 {source="MONDO:equivalentTo"} xref: OMIM:180849 {source="Orphanet:353277", source="MONDO:equivalentTo", source="Orphanet:353277/e"} xref: Orphanet:353277 {source="MONDO:equivalentTo", source="OMIM:180849"} is_a: MONDO:0019188 {source="DC-OMIM:180849", source="OMIM:180849", source="Orphanet:353277"} ! Rubinstein-Taybi syndrome is_a: MONDO:0800094 {source="PMID:31633310"} ! dysostosis with brachydactyly with extraskeletal manifestations property_value: exactMatch https://omim.org/entry/180849 property_value: exactMatch NCIT:C153290 property_value: exactMatch Orphanet:353277 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0008394 name: Silver-Russell syndrome def: "Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry." [Orphanet:813] subset: ordo_disease {source="Orphanet:813"} synonym: "Russell Silver syndrome" EXACT [GARD:0004870] synonym: "Russell-Silver dwarfism" EXACT [NCIT:C85068] synonym: "Russell-Silver syndrome" EXACT [OMIM:180860] synonym: "Silver Russell dwarfism" EXACT [DOID:14681] synonym: "Silver Russell syndrome" EXACT [GARD:0004870] synonym: "Silver-Russell dwarfism" EXACT [OMIM:180860, Orphanet:813] synonym: "Silver-Russell syndrome" EXACT [MONDO:Lexical, OMIM:180860] synonym: "SRS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:180860] xref: DOID:14681 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10062282 {source="Orphanet:813", source="Orphanet:813/e"} xref: MESH:D056730 {source="DOID:14681", source="MONDO:equivalentTo", source="Orphanet:813", source="Orphanet:813/e"} xref: NCIT:C85068 {source="DOID:14681", source="MONDO:equivalentTo"} xref: OMIMPS:180860 {source="MONDO:equivalentTo"} xref: Orphanet:813 {source="OMIM:180860", source="MONDO:equivalentTo"} xref: SCTID:15069006 {source="DOID:14681", source="MONDO:equivalentTo"} xref: UMLS:C0175693 {source="OMIM:180860", source="DOID:14681", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:813", source="NCIT:C85068", source="Orphanet:813/e"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C85068"} ! syndromic disease is_a: MONDO:0015160 {source="Orphanet:813"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0019040 {source="DOID:14681", source="MESH:D056730"} ! chromosomal disorder property_value: closeMatch http://identifiers.org/meddra/10062282 property_value: exactMatch DOID:14681 property_value: exactMatch http://identifiers.org/mesh/D056730 property_value: exactMatch http://identifiers.org/snomedct/15069006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0175693 property_value: exactMatch https://omim.org/phenotypicSeries/PS180860 property_value: exactMatch NCIT:C85068 property_value: exactMatch Orphanet:813 [Term] id: MONDO:0008395 name: Ruvalcaba syndrome def: "An extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay." [Orphanet:3121] subset: gard_rare {source="GARD:0004748"} subset: ordo_malformation_syndrome {source="Orphanet:3121"} synonym: "Ruvalcaba syndrome" EXACT [OMIM:180870] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C579395 {source="MONDO:equivalentTo"} xref: OMIM:180870 {source="Orphanet:3121/e", source="MONDO:equivalentTo", source="Orphanet:3121"} xref: Orphanet:3121 {source="MONDO:equivalentTo", source="OMIM:180870"} xref: SCTID:3073006 {source="MONDO:equivalentTo"} xref: UMLS:C0265248 {source="Orphanet:3121/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:180870", source="Orphanet:3121"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: exactMatch http://identifiers.org/mesh/C579395 property_value: exactMatch http://identifiers.org/snomedct/3073006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265248 property_value: exactMatch https://omim.org/entry/180870 property_value: exactMatch Orphanet:3121 property_value: excluded_subClassOf MONDO:0015159 {source="Orphanet:3121"} property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:3121"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4748/ruvalcaba-syndrome xsd:anyURI {source="GARD:0004748"} [Term] id: MONDO:0008396 name: oculodental syndrome, Rutherfurd type def: "Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait." [Orphanet:2709] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2709"} synonym: "corneal dystrophy with gum Hypertrophy" EXACT [OMIM:180900] synonym: "corneal dystrophy with gum hypertrophy" EXACT [GARD:0000212] synonym: "gingival hypertrophy corneal dystrophy" EXACT [GARD:0000212] synonym: "gingival Hypertrophy with corneal dystrophy" EXACT [OMIM:180900] synonym: "gingival hypertrophy-corneal dystrophy" EXACT [Orphanet:2709] synonym: "Rutherfurd syndrome" EXACT [OMIM:180900, Orphanet:2709] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537732 {source="Orphanet:2709", source="MONDO:equivalentTo", source="Orphanet:2709/e"} xref: OMIM:180900 {source="Orphanet:2709", source="GARD:0000212", source="MONDO:equivalentTo", source="Orphanet:2709/e"} xref: Orphanet:2709 {source="GARD:0000212", source="MONDO:equivalentTo", source="OMIM:180900"} xref: SCTID:699754008 {source="MONDO:equivalentTo"} xref: UMLS:C0796140 {source="Orphanet:2709", source="GARD:0000212", source="MONDO:equivalentTo", source="OMIM:180900", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2709/e"} is_a: MONDO:0020215 {source="Orphanet:2709"} ! syndromic corneal dystrophy is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:2709", source="Orphanet:2709/inferred"} ! disorder of development or morphogenesis property_value: exactMatch http://identifiers.org/mesh/C537732 property_value: exactMatch http://identifiers.org/snomedct/699754008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796140 property_value: exactMatch https://omim.org/entry/180900 property_value: exactMatch Orphanet:2709 [Term] id: MONDO:0008397 name: aplasia of lacrimal and salivary glands def: "Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation." [Orphanet:86815] subset: ordo_disease {source="Orphanet:86815"} synonym: "ALSG" EXACT ABBREVIATION [MONDO:Lexical, OMIM:180920, Orphanet:86815] synonym: "aplasia of lacrimal and salivary glands" EXACT [MONDO:Lexical, OMIM:180920] synonym: "congenital absence of lacrimal puncta and salivary glands" EXACT [Orphanet:86815] synonym: "parotid aplasia or hypoplasia" RELATED [OMIM:180920] synonym: "salivary glands, absence of" RELATED [OMIM:180920] synonym: "salivary glands, absence of, include" RELATED [OMIM:180920] xref: DOID:0111549 {source="MONDO:equivalentTo"} xref: OMIM:180920 {source="Orphanet:86815/e", source="MONDO:equivalentTo", source="Orphanet:86815"} xref: Orphanet:86815 {source="OMIM:180920", source="MONDO:equivalentTo"} xref: SCTID:715656004 {source="MONDO:equivalentTo"} is_a: MONDO:0020195 {source="Orphanet:86815"} ! excretory apparatus of the lacrimal system anomaly property_value: exactMatch DOID:0111549 property_value: exactMatch http://identifiers.org/snomedct/715656004 property_value: exactMatch https://omim.org/entry/180920 property_value: exactMatch Orphanet:86815 [Term] id: MONDO:0008402 name: cleft palate-large ears-small head syndrome def: "Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadia, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed." [Orphanet:2013] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2013"} synonym: "cleft palate large ears small head" RELATED [GARD:0000162] synonym: "cleft palate, microcephaly, large ears, and short stature" RELATED [GARD:0000162, OMIM:181180] synonym: "Say Barber Hobbs syndrome" RELATED [GARD:0000162] synonym: "SAY syndrome" RELATED [OMIM:181180] synonym: "Say-Barber-Hobbs syndrome" EXACT [Orphanet:2013] xref: MESH:C536621 {source="MONDO:equivalentTo"} xref: OMIM:181180 {source="Orphanet:2013", source="MONDO:equivalentTo", source="Orphanet:2013/e", source="GARD:0000162"} xref: Orphanet:2013 {source="MONDO:equivalentTo", source="OMIM:181180", source="GARD:0000162"} xref: SCTID:763130006 {source="MONDO:equivalentTo"} xref: UMLS:C1867023 {source="Orphanet:2013", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:181180", source="Orphanet:2013/e", source="GARD:0000162"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C536621 property_value: exactMatch http://identifiers.org/snomedct/763130006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867023 property_value: exactMatch https://omim.org/entry/181180 property_value: exactMatch Orphanet:2013 [Term] id: MONDO:0008403 name: scalp defects-postaxial polydactyly syndrome def: "Scalp defects-postaxial polydactyly syndrome is characterized by congenital scalp defects and postaxial polydactyly type A." [Orphanet:1003] subset: ordo_malformation_syndrome {source="Orphanet:1003"} synonym: "congenital scalp defects associated with postaxial polydactyly" RELATED [GARD:0000241] synonym: "scalp defects and postaxial polydactyly" RELATED [OMIM:181250] synonym: "scalp defects postaxial polydactyly" RELATED [GARD:0000241] xref: MESH:C536622 {source="Orphanet:1003", source="MONDO:equivalentTo", source="Orphanet:1003/e"} xref: OMIM:181250 {source="Orphanet:1003", source="MONDO:equivalentTo", source="Orphanet:1003/e"} xref: Orphanet:1003 {source="MONDO:equivalentTo", source="OMIM:181250"} xref: UMLS:C1867021 {source="Orphanet:1003", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:181250", source="Orphanet:1003/e"} is_a: MONDO:0018454 ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation is_a: MONDO:0957001 ! hereditary mixed dermis disorder property_value: exactMatch http://identifiers.org/mesh/C536622 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867021 property_value: exactMatch https://omim.org/entry/181250 property_value: exactMatch Orphanet:1003 [Term] id: MONDO:0008404 name: scalp-ear-nipple syndrome def: "Scalp-ear-nipple syndrome is characterized by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant." [Orphanet:2036] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2036"} synonym: "Finlay-Marks syndrome" EXACT [GARD:0000159, OMIM:181270, Orphanet:2036] synonym: "hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples" RELATED [GARD:0000159] synonym: "scalp ear nipple syndrome" RELATED [GARD:0000159] synonym: "scalp-EAR-nipple syndrome" RELATED [OMIM:181270] synonym: "scalp-ear-nipple syndrome" EXACT [GARD:0000159, MONDO:Lexical, OMIM:181270] synonym: "Sen syndrome" RELATED [GARD:0000159, OMIM:181270] synonym: "SENS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:181270] xref: DOID:0111550 {source="MONDO:equivalentTo"} xref: MESH:C536623 {source="Orphanet:2036", source="MONDO:equivalentTo", source="Orphanet:2036/e"} xref: OMIM:181270 {source="Orphanet:2036", source="MONDO:equivalentTo", source="GARD:0000159", source="Orphanet:2036/e"} xref: Orphanet:2036 {source="MONDO:equivalentTo", source="GARD:0000159", source="OMIM:181270"} xref: SCTID:721888002 {source="MONDO:equivalentTo"} is_a: MONDO:0015161 {source="Orphanet:2036"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015853 {source="Orphanet:2036"} ! deficient breast volume or number is_a: MONDO:0019287 {source="Orphanet:2036"} ! ectodermal dysplasia syndrome is_a: MONDO:0957001 ! hereditary mixed dermis disorder property_value: exactMatch DOID:0111550 property_value: exactMatch http://identifiers.org/mesh/C536623 property_value: exactMatch http://identifiers.org/snomedct/721888002 property_value: exactMatch https://omim.org/entry/181270 property_value: exactMatch Orphanet:2036 [Term] id: MONDO:0008406 name: autosomal recessive Emery-Dreifuss muscular dystrophy def: "Autosomal recessive form of Emery-Dreifuss muscular dystrophy." [MONDO:patterns/autosomal_recessive] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: obsoletion_candidate subset: ordo_etiological_subtype {source="Orphanet:98855"} synonym: "EDMD3" EXACT ABBREVIATION [Orphanet:98855] synonym: "Emery-Dreifuss muscular dystrophy, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] xref: Orphanet:98855 {source="MONDO:equivalentTo"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0016830 {source="MONDO:Redundant", source="Orphanet:261/btnt", source="Orphanet:98855"} ! Emery-Dreifuss muscular dystrophy property_value: exactMatch Orphanet:98855 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0008407 name: neurogenic scapuloperoneal syndrome, Kaeser type subset: gard_rare {source="GARD:0010312"} subset: ordo_disease {source="Orphanet:85146"} synonym: "Kaeser syndrome" EXACT [OMIM:181400, Orphanet:85146] synonym: "scapuloperoneal syndrome, neurogenic type, of Kaeser" RELATED [OMIM:181400] synonym: "scapuloperoneal syndrome, neurogenic, Kaeser type" RELATED [MONDO:Lexical, OMIM:181400] synonym: "SCPNK" RELATED ABBREVIATION [MONDO:Lexical, OMIM:181400] synonym: "stark-Kaeser syndrome" EXACT [OMIM:181400, Orphanet:85146] xref: DOID:0111551 {source="MONDO:equivalentTo"} xref: MESH:C566695 {source="MONDO:equivalentTo"} xref: OMIM:181400 {source="Orphanet:85146", source="MONDO:equivalentTo", source="Orphanet:85146/e"} xref: Orphanet:85146 {source="OMIM:181400", source="MONDO:equivalentTo"} xref: UMLS:C1867005 {source="OMIM:181400", source="Orphanet:85146", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0003782 {source="MESH:C566695/inferred", source="Orphanet:85146", source="Orphanet:85146/inferred"} ! motor neuron disease is_a: MONDO:0016187 {source="Orphanet:85146"} ! qualitative or quantitative defects of desmin property_value: exactMatch DOID:0111551 property_value: exactMatch http://identifiers.org/mesh/C566695 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867005 property_value: exactMatch https://omim.org/entry/181400 property_value: exactMatch Orphanet:85146 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10312/scapuloperoneal-syndrome-neurogenic-kaeser-type xsd:anyURI {source="GARD:0010312"} [Term] id: MONDO:0008409 name: congenital myopathy 7A, myosin storage, autosomal dominant subset: ordo_disease {source="Orphanet:437572"} synonym: "autosomal dominant myosin storage myopathy" EXACT [Orphanet:636965] synonym: "MSMA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608358] synonym: "MYH7-related late-onset scapuloperoneal muscular dystrophy" EXACT DEPRECATED [Orphanet:437572] synonym: "MYH7-related late-onset scapuloperoneal syndrome" EXACT DEPRECATED [Orphanet:437572] synonym: "MYH7-related late-onset SPMD" EXACT DEPRECATED [Orphanet:437572] synonym: "MYH7-related scapuloperoneal myopathy" EXACT [GARD:0010313] synonym: "myopathy with lysis of type 1 myofibrils" EXACT [OMIM:608358] synonym: "myopathy, hyaline body, autosomal dominant" EXACT [OMIM:608358] synonym: "myopathy, myosin storage, autosomal dominant" EXACT [MONDO:Lexical, OMIM:608358] synonym: "scapuloperoneal muscular dystrophy" EXACT [OMIM:181430] synonym: "scapuloperoneal myopathy, MYH7-related" EXACT [MONDO:Lexical, OMIM:181430] synonym: "scapuloperoneal syndrome, myopathic type" EXACT [OMIM:181430] synonym: "SPMD" EXACT ABBREVIATION [GARD:0010313] synonym: "SPMM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:181430] xref: DOID:0111269 {source="MONDO:equivalentTo"} xref: ICD9:359.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C564253 {source="MONDO:equivalentTo"} xref: OMIM:181430 {source="Orphanet:437572/e", source="MONDO:equivalentObsolete", source="Orphanet:437572"} xref: OMIM:608358 {source="MONDO:equivalentTo"} xref: Orphanet:437572 {source="MONDO:equivalentObsolete"} xref: Orphanet:636965 {source="MONDO:equivalentTo"} xref: UMLS:C4759774 {source="MONDO:equivalentTo"} is_a: MONDO:0000727 {source="DC-OMIM:181430", source="OMIM:181430"} ! scapuloperoneal myopathy is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0016195 {source="Orphanet:437572"} ! qualitative or quantitative defects of beta-myosin heavy chain (MYH7) is_a: MONDO:0019952 {source="OMIM:608358"} ! congenital myopathy property_value: exactMatch DOID:0111269 property_value: exactMatch http://identifiers.org/mesh/C564253 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4759774 property_value: exactMatch https://omim.org/entry/608358 property_value: exactMatch Orphanet:636965 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6045 xsd:anyURI [Term] id: MONDO:0008410 name: Scheuermann disease def: "A disorder characterized by osteochondrosis of the vertebral epiphyses in childhood." [NCIT:P378] subset: ordo_malformation_syndrome {source="Orphanet:3135"} synonym: "Calve's disease" EXACT [NCIT:C34999] synonym: "familial Scheuermann disease" RELATED [Orphanet:3135] synonym: "familial Scheuermann juvenile kyphosis" EXACT [Orphanet:3135] synonym: "familial spinal osteochondrosis" EXACT [Orphanet:3135] synonym: "juvenile kyphosis" RELATED [GARD:0007610] synonym: "juvenile osteochondritis of the spine" EXACT [DOID:13300] synonym: "juvenile osteochondrosis of Scheurermann" EXACT [DOID:13300] synonym: "juvenile osteochondrosis of spine" EXACT [DOID:13300, ICD9CM:732.0] synonym: "Scheuermann disease" EXACT [DOID:13300, OMIM:181440] synonym: "Scheuermann juvenile kyphosis" RELATED [OMIM:181440] synonym: "Scheuermann kyphosis" RELATED [GARD:0007610] synonym: "Scheuermann's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] synonym: "Scheuermann's kyphosis" EXACT [DOID:13300] synonym: "Sherman's disease" EXACT [DOID:13300] synonym: "spinal Osteochondrosis" RELATED [OMIM:181440] xref: DOID:13300 {source="MONDO:equivalentTo"} xref: EFO:0008576 {source="MONDO:equivalentTo"} xref: ICD9:732.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13300"} xref: MESH:D012544 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo", source="DOID:13300"} xref: NCIT:C34999 {source="MONDO:equivalentTo", source="DOID:13300"} xref: OMIM:181440 {source="Orphanet:3135", source="MONDO:equivalentTo", source="Orphanet:3135/e", source="DOID:13300"} xref: Orphanet:3135 {source="MONDO:equivalentObsolete", source="OMIM:181440"} xref: SCTID:53406005 {source="MONDO:equivalentTo", source="DOID:13300"} xref: UMLS:C0036310 {source="Orphanet:3135", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:181440", source="DOID:13300", source="NCIT:C34999"} is_a: MONDO:0018385 {source="Orphanet:3135"} ! osteochondrosis of genetic origin property_value: exactMatch DOID:13300 property_value: exactMatch http://identifiers.org/mesh/D012544 property_value: exactMatch http://identifiers.org/snomedct/53406005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036310 property_value: exactMatch https://omim.org/entry/181440 property_value: exactMatch NCIT:C34999 [Term] id: MONDO:0008411 name: ulnar-mammary syndrome def: "Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described." [Orphanet:3138] subset: gard_rare {source="GARD:0000118"} subset: ordo_malformation_syndrome {source="Orphanet:3138"} synonym: "Pallister ulnar-mammary syndrome" EXACT [DOID:0060614, Orphanet:3138] synonym: "Schinzel syndrome" EXACT [DOID:0060614, OMIM:181450, Orphanet:3138] synonym: "ulnar-mammary syndrome" EXACT [MONDO:Lexical, OMIM:181450] synonym: "ulnar-mammary syndrome of Pallister" RELATED [GARD:0000118] synonym: "ums" EXACT [MONDO:Lexical, OMIM:181450, Orphanet:3138] xref: DOID:0060614 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536937 {source="Orphanet:3138", source="MONDO:equivalentTo", source="Orphanet:3138/e", source="DOID:0060614"} xref: OMIM:181450 {source="Orphanet:3138", source="MONDO:equivalentTo", source="Orphanet:3138/e", source="DOID:0060614"} xref: Orphanet:3138 {source="MONDO:equivalentTo", source="DOID:0060614", source="OMIM:181450"} xref: SCTID:700211007 {source="MONDO:equivalentTo"} xref: UMLS:C1866994 {source="Orphanet:3138", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3138/e", source="DOID:0060614", source="OMIM:181450"} is_a: MONDO:0015160 {source="Orphanet:3138"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0015246 {source="Orphanet:3138"} ! syndromic anorectal malformation is_a: MONDO:0015853 {source="Orphanet:3138"} ! deficient breast volume or number is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect property_value: exactMatch DOID:0060614 property_value: exactMatch http://identifiers.org/mesh/C536937 property_value: exactMatch http://identifiers.org/snomedct/700211007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866994 property_value: exactMatch https://omim.org/entry/181450 property_value: exactMatch Orphanet:3138 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/118/ulnar-mammary-syndrome xsd:anyURI {source="GARD:0000118"} [Term] id: MONDO:0008416 name: palmoplantar keratoderma-sclerodactyly syndrome subset: gard_rare {source="GARD:0008517"} subset: ordo_disease {source="Orphanet:384"} synonym: "atrophic fibrosis of the skin of the limbs, hypoplasia of nails, and keratodermia of the palms and soles" RELATED [GARD:0008517] synonym: "HRZ" RELATED ABBREVIATION [GARD:0008517, OMIM:181600] synonym: "HURIEZ syndrome" RELATED [OMIM:181600] synonym: "Huriez syndrome" EXACT [OMIM:181600, Orphanet:384] synonym: "palmoplantar hyperkeratosis-sclerodactyly syndrome" EXACT [Orphanet:384] synonym: "Scleroatrophic and keratotic dermatosis of limbs" RELATED [OMIM:181600] synonym: "Scleroatrophic syndrome" EXACT [Orphanet:384] synonym: "SCLEROTYLOSIS" RELATED ABBREVIATION [OMIM:181600] synonym: "Sclerotylosis" EXACT [Orphanet:384] synonym: "Tys" RELATED [OMIM:181600] xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537526 {source="MONDO:equivalentTo"} xref: OMIM:181600 {source="Orphanet:384/e", source="MONDO:equivalentTo", source="Orphanet:384"} xref: Orphanet:384 {source="OMIM:181600", source="MONDO:equivalentTo"} xref: SCTID:239076000 {source="MONDO:equivalentTo"} is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma property_value: exactMatch http://identifiers.org/mesh/C537526 property_value: exactMatch http://identifiers.org/snomedct/239076000 property_value: exactMatch https://omim.org/entry/181600 property_value: exactMatch Orphanet:384 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8517/palmoplantar-keratoderma-sclerodactyly-syndrome xsd:anyURI {source="GARD:0008517"} [Term] id: MONDO:0008425 name: omphalocele syndrome, Shprintzen-Goldberg type def: "Shprintzen-Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities." [Orphanet:3164] subset: ordo_malformation_syndrome {source="Orphanet:3164"} synonym: "laryngeal and pharyngeal hypoplasia with omphalocele" RELATED [GARD:0009850] synonym: "omphalocele with hypoplasia of pharynx and larynx, learning disability, dysmorphic facies, and scoliosis" RELATED [OMIM:182210] synonym: "omphalocele, laryngeal and pharyngeal hypoplasia, learning disabilities, dysmorphic facies and spinal anomalies" RELATED [GARD:0009850] synonym: "pharynx and larynx hypoplasia with omphalocele" RELATED [OMIM:182210] synonym: "Shprintzen omphalocele syndrome" RELATED [OMIM:182210] synonym: "Shprintzen-Goldberg omphalocele syndrome" RELATED [GARD:0009850] xref: MESH:C537329 {source="MONDO:equivalentTo"} xref: OMIM:182210 {source="Orphanet:3164/e", source="MONDO:equivalentTo", source="Orphanet:3164"} xref: Orphanet:3164 {source="MONDO:equivalentTo", source="OMIM:182210"} xref: SCTID:716230005 {source="MONDO:equivalentTo"} xref: UMLS:C1866958 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:182210", source="Orphanet:3164"} is_a: MONDO:0015159 {source="Orphanet:3164"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C537329 property_value: exactMatch http://identifiers.org/snomedct/716230005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866958 property_value: exactMatch https://omim.org/entry/182210 property_value: exactMatch Orphanet:3164 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3164"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0008426 name: Shprintzen-Goldberg syndrome def: "Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability." [Orphanet:2462] subset: clingen subset: ordo_malformation_syndrome {source="Orphanet:2462"} synonym: "craniosynostosis with arachnodactyly and abdominal hernias" RELATED [OMIM:182212] synonym: "Marfanoid craniosynostosis syndrome" EXACT [OMIM:182212, Orphanet:2462] synonym: "Marfanoid disorder with craniosynostosis type 1" RELATED [GARD:0004861] synonym: "Marfanoid disorder with craniosynostosis, type 1" RELATED [OMIM:182212] synonym: "Marfanoid-craniosynostosis syndrome" RELATED [GARD:0004861] synonym: "SGS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:182212, Orphanet:2462] synonym: "Shprintzen-Goldberg craniosynostosis syndrome" RELATED [MONDO:Lexical, OMIM:182212] synonym: "Shprintzen-Goldberg marfanoid syndrome" RELATED [GARD:0004861] synonym: "Shprintzen-Goldberg syndrome" EXACT [] xref: NCIT:C124840 {source="MONDO:equivalentTo"} xref: OMIM:182212 {source="Orphanet:2462", source="MONDO:equivalentTo", source="Orphanet:2462/e"} xref: Orphanet:2462 {source="MONDO:equivalentTo", source="OMIM:182212"} xref: SCTID:719069008 {source="MONDO:equivalentTo"} xref: UMLS:C1321551 {source="Orphanet:2462", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2462/e", source="OMIM:182212"} is_a: MONDO:0015159 {source="Orphanet:2462"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015338 {source="Orphanet:2462", source="PMID:31633310"} ! syndromic craniosynostosis is_a: MONDO:0017310 {source="Orphanet:2462"} ! Marfan and Marfan-related disorder property_value: exactMatch http://identifiers.org/snomedct/719069008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1321551 property_value: exactMatch https://omim.org/entry/182212 property_value: exactMatch NCIT:C124840 property_value: exactMatch Orphanet:2462 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2462", source="https://clinicalgenome.org/affiliation/40060/"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0008428 name: septooptic dysplasia def: "Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." [Orphanet:3157] subset: ordo_malformation_syndrome {source="Orphanet:3157"} synonym: "De Morsier syndrome" EXACT [DOID:0060857, OMIM:182230, Orphanet:3157] synonym: "Growth hormone deficiency with pituitary anomalies" RELATED [OMIM:182230] synonym: "hypopituitarism and septooptic 'dysplasia'" RELATED [GARD:0007627] synonym: "pituitary hormone deficiency, combined, 5" RELATED [OMIM:182230] synonym: "septo-optic dysplasia" EXACT [DOID:0060857, Orphanet:3157] synonym: "septo-optic dysplasia sequence" EXACT [NCIT:C85063] synonym: "septo-optic dysplasia spectrum" RELATED [Orphanet:3157] synonym: "septo-optic dysplasia with growth hormone deficiency" RELATED [GARD:0007627] synonym: "septooptic dysplasia" EXACT [OMIM:182230] synonym: "SOD" EXACT ABBREVIATION [DOID:0060857, Orphanet:3157] xref: DOID:0060857 {source="MONDO:equivalentTo"} xref: MedDRA:10067159 {source="Orphanet:3157", source="Orphanet:3157/e"} xref: MESH:D025962 {source="Orphanet:3157", source="MONDO:equivalentTo", source="Orphanet:3157/e", source="DOID:0060857"} xref: NCIT:C85063 {source="MONDO:equivalentTo"} xref: OMIM:182230 {source="Orphanet:3157", source="MONDO:equivalentTo", source="Orphanet:3157/e", source="DOID:0060857"} xref: Orphanet:3157 {source="MONDO:equivalentTo", source="DOID:0060857", source="OMIM:182230"} xref: SCTID:7611002 {source="MONDO:equivalentTo"} xref: UMLS:C0162809 {source="Orphanet:3157", source="MONDO:directSiblingOf"} xref: UMLS:C0338503 {source="Orphanet:3157", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C85063", source="Orphanet:3157/e", source="DOID:0060857", source="OMIM:182230"} is_a: MONDO:0000429 {source="DOID:0060857"} ! autosomal genetic disease is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C85063"} ! syndromic disease is_a: MONDO:0013099 {source="OMIM:182230", source="Orphanet:95494/btnt"} ! combined pituitary hormone deficiencies, genetic form property_value: closeMatch http://identifiers.org/meddra/10067159 property_value: exactMatch DOID:0060857 property_value: exactMatch http://identifiers.org/mesh/D025962 property_value: exactMatch http://identifiers.org/snomedct/7611002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0338503 property_value: exactMatch https://omim.org/entry/182230 property_value: exactMatch NCIT:C85063 property_value: exactMatch Orphanet:3157 property_value: excluded_subClassOf MONDO:0015218 {source="MONDO:Redundant", source="Orphanet:3157"} property_value: excluded_subClassOf MONDO:0015220 {source="MONDO:0017120-obsoleted"} property_value: excluded_subClassOf MONDO:0015310 {source="Orphanet:3157"} property_value: excluded_subClassOf MONDO:0015368 {source="MONDO:0020262-obsoleted"} property_value: excluded_subClassOf MONDO:0019827 {source="Orphanet:3157"} property_value: excluded_subClassOf MONDO:0020145 {source="MONDO:0020149-obsoleted"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/pull/2571/ xsd:anyURI [Term] id: MONDO:0008429 name: Singleton-Merten dysplasia def: "Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male)." [Orphanet:85191] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:85191"} synonym: "Merten-Singleton syndrome" RELATED [GARD:0000122] synonym: "SGMRT1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:182250] synonym: "singleton Merten syndrome" RELATED [GARD:0000122] synonym: "Singleton-Merten syndrome" EXACT [Orphanet:85191] synonym: "SM syndrome" RELATED [GARD:0000122] synonym: "syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition" RELATED [GARD:0000122] synonym: "widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness" RELATED [GARD:0000122] xref: ICD9:733.29 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537343 {source="MONDO:equivalentTo"} xref: OMIMPS:182250 {source="MONDO:equivalentTo"} xref: Orphanet:85191 {source="GARD:0000122", source="MONDO:equivalentTo", source="OMIM:182250"} xref: SCTID:254114000 {source="MONDO:equivalentTo"} xref: UMLS:C0432254 {source="GARD:0000122", source="MONDO:equivalentTo", source="OMIM:182250", source="Orphanet:85191"} is_a: MONDO:0018782 {source="Orphanet:85191"} ! type 1 interferonopathy is_a: MONDO:0023603 ! hereditary disorder of connective tissue property_value: exactMatch http://identifiers.org/mesh/C537343 property_value: exactMatch http://identifiers.org/snomedct/254114000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432254 property_value: exactMatch https://omim.org/phenotypicSeries/PS182250 property_value: exactMatch Orphanet:85191 property_value: excluded_subClassOf MONDO:0019704 {source="Orphanet:85191"} [Term] id: MONDO:0008434 name: Smith-Magenis syndrome def: "Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." [Orphanet:819] subset: ordo_malformation_syndrome {source="Orphanet:819"} synonym: "17p11.2 microdeletion syndrome" EXACT [DOID:0060768, Orphanet:819] synonym: "chromosome 17P11.2 deletion syndrome" RELATED [OMIM:182290] synonym: "chromosome 17p11.2 deletion syndrome" EXACT [DOID:0060768] synonym: "Smith-Magenis chromosome region" RELATED [OMIM:182290] synonym: "SMITH-Magenis syndrome" RELATED [OMIM:182290] synonym: "Smith-Magenis syndrome" EXACT [MONDO:Lexical, OMIM:182290] synonym: "Smith-Magenis syndrome chromosome region" RELATED [OMIM:182290] synonym: "Smith-Magenis syndrome, Isolated cases" EXACT [OMIM:182290, OMIM:genemap2] synonym: "SMS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:182290] xref: DECIPHER:8 {source="MONDO:equivalentTo"} xref: DOID:0060768 {source="MONDO:equivalentTo"} xref: ICD9:758.33 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D058496 {source="Orphanet:819/e", source="MONDO:equivalentTo", source="Orphanet:819"} xref: NCIT:C75469 {source="MONDO:equivalentTo"} xref: OMIM:182290 {source="Orphanet:819/e", source="MONDO:equivalentTo", source="DOID:0060768", source="Orphanet:819"} xref: Orphanet:819 {source="OMIM:182290", source="MONDO:equivalentTo", source="DOID:0060768"} xref: SCTID:401315004 {source="MONDO:equivalentTo"} xref: UMLS:C0795864 {source="Orphanet:819/e", source="OMIM:182290", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:819", source="NCIT:C75469"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:819", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability is_a: MONDO:0000761 {source="DOID:0060768"} ! syndrome caused by partial chromosomal deletion is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:819"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0016565 {source="Orphanet:819"} ! syndromic genetic obesity property_value: exactMatch DOID:0060768 property_value: exactMatch http://identifiers.org/mesh/D058496 property_value: exactMatch http://identifiers.org/snomedct/401315004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795864 property_value: exactMatch https://omim.org/entry/182290 property_value: exactMatch NCIT:C75469 property_value: exactMatch Orphanet:819 property_value: excluded_subClassOf MONDO:0022754 {source="Orphanet:819"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5659 xsd:anyURI [Term] id: MONDO:0008437 name: hereditary spastic paraplegia 3A def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATL1 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:100984"} synonym: "ATL1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant familial spastic paraplegia 1" EXACT [DOID:0110791] synonym: "autosomal dominant spastic paraplegia 3" EXACT [DOID:0110791] synonym: "autosomal dominant spastic paraplegia type 3" EXACT [DOID:0110791] synonym: "familial spastic paraplegia, autosomal dominant, 1" RELATED [OMIM:182600] synonym: "FSP1" EXACT ABBREVIATION [DOID:0110791] synonym: "hereditary spastic paraplegia caused by mutation in ATL1" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 3A" EXACT [DOID:0110791, MONDORULE:4] synonym: "spastic paraplegia 3" RELATED [GARD:0005041] synonym: "spastic paraplegia 3, autosomal dominant" RELATED [MONDO:Lexical, OMIM:182600] synonym: "spastic Paraplegia 3A" EXACT [NCIT:C142893] synonym: "spastic paraplegia 3a, autosomal dominant" EXACT [OMIM:182600, OMIM:genemap2] synonym: "Spg3" RELATED [OMIM:182600] synonym: "SPG3A" EXACT ABBREVIATION [DOID:0110791, MONDO:Lexical, OMIM:182600] synonym: "Strumpell disease" RELATED [OMIM:182600] synonym: "strumpell disease" EXACT [DOID:0110791] synonym: "Strümpell disease" EXACT [Orphanet:100984] xref: DOID:0110791 {source="MONDO:equivalentTo"} xref: MESH:C536864 {source="MONDO:equivalentTo", source="Orphanet:100984", source="Orphanet:100984/e"} xref: NCIT:C142893 {source="MONDO:equivalentTo"} xref: OMIM:182600 {source="MONDO:equivalentTo", source="Orphanet:100984", source="DOID:0110791", source="Orphanet:100984/e"} xref: Orphanet:100984 {source="OMIM:182600", source="MONDO:equivalentTo", source="DOID:0110791"} xref: UMLS:C2931355 {source="OMIM:182600", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:100984", source="Orphanet:100984/e"} is_a: MONDO:0017914 {source="Orphanet:100984"} ! pure or complex autosomal dominant spastic paraplegia property_value: exactMatch DOID:0110791 property_value: exactMatch http://identifiers.org/mesh/C536864 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931355 property_value: exactMatch https://omim.org/entry/182600 property_value: exactMatch NCIT:C142893 property_value: exactMatch Orphanet:100984 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008438 name: hereditary spastic paraplegia 4 def: "Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset." [Orphanet:100985] subset: ordo_disease {source="Orphanet:100985"} synonym: "autosomal dominant spastic paraplegia 4" EXACT [DOID:0110792] synonym: "autosomal dominant spastic paraplegia type 4" EXACT [DOID:0110792] synonym: "familial spastic paraplegia autosomal dominant 2" RELATED [GARD:0004925] synonym: "familial spastic paraplegia, autosomal dominant, 2" RELATED [OMIM:182601] synonym: "FSP2" RELATED ABBREVIATION [GARD:0004925] synonym: "hereditary spastic paraplegia 4" EXACT [] synonym: "hereditary spastic paraplegia caused by mutation in SPAST" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 4" EXACT [DOID:0110792, MONDORULE:1] synonym: "SPAST hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "spastic paraplegia 4" RELATED [GARD:0004925] synonym: "spastic paraplegia 4, autosomal dominant" RELATED [MONDO:Lexical, OMIM:182601] synonym: "SPG4" EXACT ABBREVIATION [DOID:0110792, MONDO:Lexical, OMIM:182601, Orphanet:100985] xref: DOID:0110792 {source="MONDO:equivalentTo"} xref: MESH:C536865 {source="MONDO:equivalentTo", source="Orphanet:100985", source="Orphanet:100985/e"} xref: NCIT:C129981 {source="MONDO:equivalentTo"} xref: OMIM:182601 {source="MONDO:equivalentTo", source="Orphanet:100985", source="DOID:0110792", source="Orphanet:100985/e"} xref: Orphanet:100985 {source="OMIM:182601", source="MONDO:equivalentTo", source="DOID:0110792"} xref: SCTID:723820001 {source="MONDO:equivalentTo"} xref: UMLS:C1866855 {source="OMIM:182601", source="MONDO:equivalentTo", source="Orphanet:100985", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:100985/e"} xref: UMLS:C4510079 {source="MONDO:equivalentTo"} is_a: MONDO:0017914 {source="Orphanet:100985"} ! pure or complex autosomal dominant spastic paraplegia is_a: MONDO:0100523 {source="https://clinicalgenome.org/affiliation/40006/"} ! SPAST-related motor disorder property_value: exactMatch DOID:0110792 property_value: exactMatch http://identifiers.org/mesh/C536865 property_value: exactMatch http://identifiers.org/snomedct/723820001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866855 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510079 property_value: exactMatch https://omim.org/entry/182601 property_value: exactMatch NCIT:C129981 property_value: exactMatch Orphanet:100985 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6279 xsd:anyURI [Term] id: MONDO:0008439 name: spastic paraplegia-epilepsy-intellectual disability syndrome comment: Editor note: TODO fix GARD spelling subset: ordo_disease {source="Orphanet:2816"} synonym: "spastic paraplegia epilepsy intellectual disability" RELATED [GARD:0004915] synonym: "spastic paraplegia epilepsy mental retardation" RELATED DEPRECATED [GARD:0004915] synonym: "spastic paraplegia, epilepsy, and intellectual disability" RELATED [MONDO:Lexical, OMIM:182610] synonym: "spastic paraplegia, epilepsy, and mental retardation" RELATED DEPRECATED [MONDO:Lexical, OMIM:182610] synonym: "SPEMR" EXACT ABBREVIATION [MONDO:Lexical, OMIM:182610, Orphanet:2816] synonym: "spemr" RELATED [GARD:0004915] xref: MESH:C536869 {source="MONDO:equivalentTo"} xref: OMIM:182610 {source="Orphanet:2816/e", source="MONDO:equivalentTo", source="Orphanet:2816"} xref: Orphanet:2816 {source="OMIM:182610", source="MONDO:equivalentObsolete"} xref: UMLS:C1866854 {source="OMIM:182610", source="Orphanet:2816/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2816"} is_a: MONDO:0015087 {source="Orphanet:2816"} ! autosomal dominant complex spastic paraplegia relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: exactMatch http://identifiers.org/mesh/C536869 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866854 property_value: exactMatch https://omim.org/entry/182610 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:2816"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0008440 name: spastic paraplegia-nephritis-deafness syndrome def: "This syndrome is characterized by variable spastic paraplegia, bilateral sensorineural deafness, intellectual deficit and progressive nephropathy." [Orphanet:2820] subset: gard_rare subset: ordo_clinical_syndrome {source="Orphanet:2820"} synonym: "Fitzsimmons Walson Mellor syndrome" RELATED [GARD:0002342] synonym: "Fitzsimmons-Walson-Mellor syndrome" EXACT [Orphanet:2820] synonym: "spastic paraplegia - nephritis - deafness" RELATED [GARD:0002342] synonym: "spastic paraplegia, bilateral sensorineural deafness, intellectual retardation, and progressive nephropathy" RELATED [GARD:0002342] synonym: "spastic paraplegia, sensorineural deafness, intellectual disability, and progressive nephropathy" RELATED [OMIM:182690] synonym: "spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy" RELATED DEPRECATED [OMIM:182690] xref: MESH:C537937 {source="MONDO:equivalentTo"} xref: OMIM:182690 {source="GARD:0002342", source="MONDO:equivalentTo", source="Orphanet:2820", source="Orphanet:2820/e"} xref: Orphanet:2820 {source="GARD:0002342", source="MONDO:equivalentTo", source="OMIM:182690"} xref: UMLS:C2931667 {source="GARD:0002342", source="MONDO:equivalentTo", source="Orphanet:2820", source="Orphanet:2820/e"} is_a: MONDO:0015087 {source="Orphanet:2820"} ! autosomal dominant complex spastic paraplegia property_value: exactMatch http://identifiers.org/mesh/C537937 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931667 property_value: exactMatch https://omim.org/entry/182690 property_value: exactMatch Orphanet:2820 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="MONDO:cjm"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2342/fitzsimmons-walson-mellor-syndrome xsd:anyURI {source="GARD:0002342"} [Term] id: MONDO:0008442 name: spastic paraplegia-neuropathy-poikiloderma syndrome def: "Spastic paraplegia-neuropathy-poikiloderma syndrome is a complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992." [Orphanet:2821] subset: ordo_disease {source="Orphanet:2821"} synonym: "Antinolo-Nieto-Borrego syndrome" EXACT [Orphanet:2821] synonym: "familial spastic paraplegia with neuropathy and poikiloderma" RELATED [GARD:0004921] synonym: "spastic paraplegia neuropathy poikiloderma" RELATED [GARD:0004921] synonym: "spastic paraplegia with neuropathy and poikiloderma" RELATED [OMIM:182815] xref: MESH:C536870 {source="MONDO:equivalentTo", source="Orphanet:2821", source="Orphanet:2821/e"} xref: OMIM:182815 {source="MONDO:equivalentTo", source="Orphanet:2821", source="Orphanet:2821/e"} xref: Orphanet:2821 {source="MONDO:equivalentTo", source="OMIM:182815"} xref: UMLS:C1866851 {source="MONDO:equivalentTo", source="Orphanet:2821", source="MONDO:ncbi_mim2gene_medline", source="OMIM:182815", source="Orphanet:2821/e"} is_a: MONDO:0015087 {source="Orphanet:2821"} ! autosomal dominant complex spastic paraplegia property_value: exactMatch http://identifiers.org/mesh/C536870 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866851 property_value: exactMatch https://omim.org/entry/182815 property_value: exactMatch Orphanet:2821 [Term] id: MONDO:0008443 name: spastic paraplegia-precocious puberty syndrome def: "Spastic paraplegia-precocious puberty syndrome is characterized by precocious puberty (due to Leydig cell hyperplasia), progressive spastic paraplegia and intellectual deficit. It has been described in two brothers. The fact that other family members displayed brisk reflexes and dysarthria suggested autosomal dominant inheritance with variable expression." [Orphanet:2826] subset: ordo_disease {source="Orphanet:2826"} synonym: "familial spastic paraplegia, intellectual disability, and precocious puberty" RELATED [GARD:0004918] synonym: "familial spastic paraplegia, mental retardation, and precocious puberty" RELATED DEPRECATED [GARD:0004918] synonym: "precocious puberty with spastic paraplegia" RELATED [OMIM:182820] synonym: "spastic paraplegia with precocious puberty" RELATED [OMIM:182820] xref: MESH:C536874 {source="Orphanet:2826/e", source="MONDO:equivalentTo", source="Orphanet:2826"} xref: OMIM:182820 {source="Orphanet:2826/e", source="MONDO:equivalentTo", source="Orphanet:2826"} xref: Orphanet:2826 {source="OMIM:182820", source="MONDO:equivalentTo"} xref: UMLS:C1866850 {source="OMIM:182820", source="Orphanet:2826/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2826"} is_a: MONDO:0015087 {source="Orphanet:2826"} ! autosomal dominant complex spastic paraplegia relationship: disease_has_feature MONDO:0000088 ! precocious puberty property_value: exactMatch http://identifiers.org/mesh/C536874 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866850 property_value: exactMatch https://omim.org/entry/182820 property_value: exactMatch Orphanet:2826 [Term] id: MONDO:0008445 name: delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome def: "This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases." [Orphanet:3038] subset: ordo_malformation_syndrome {source="Orphanet:3038"} synonym: "delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases" RELATED [GARD:0003449] synonym: "Mehes syndrome" EXACT [Orphanet:3038] synonym: "speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe CREASE" RELATED [OMIM:182875] xref: OMIM:182875 {source="Orphanet:3038", source="MONDO:equivalentTo", source="Orphanet:3038/e"} xref: Orphanet:3038 {source="OMIM:182875", source="MONDO:equivalentTo"} xref: SCTID:716199000 {source="MONDO:equivalentTo"} xref: UMLS:C2931119 {source="Orphanet:3038", source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:3038"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/snomedct/716199000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931119 property_value: exactMatch https://omim.org/entry/182875 property_value: exactMatch Orphanet:3038 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3038"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0008448 name: obsolete spheroid body myopathy property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6203 xsd:string is_obsolete: true replaced_by: MONDO:0012215 [Term] id: MONDO:0008451 name: neuronopathy, distal hereditary motor, type 1 def: "An autosomal dominant neurodegenerative disorder characterized by juvenile onset, distal motor weakness without sensory impairment, and anterior horn cell degeneration." [NCIT:C132826] subset: ordo_disease {source="Orphanet:139518"} synonym: "autosomal dominant distal juvenile spinal muscular atrophy type 1" EXACT [Orphanet:139518] synonym: "Charcot-Marie-Tooth disease, spinal, 1" RELATED [OMIM:182960] synonym: "Charcot-Marie-Tooth disease, spinal, I" EXACT [NCIT:C132826] synonym: "dHMN1" EXACT [Orphanet:139518] synonym: "distal hereditary motor neuronopathy type I" EXACT [NCIT:C132826] synonym: "HMN 1" RELATED [OMIM:182960] synonym: "HMN1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:182960] synonym: "neuronopathy, distal hereditary motor, type I" RELATED [MONDO:Lexical, OMIM:182960] synonym: "neuropathy, distal hereditary motor, type 1" RELATED [OMIM:182960] synonym: "spinal muscular atrophy, distal, juvenile, autosomal dominant, 1" RELATED [OMIM:182960] xref: DOID:0111200 {source="MONDO:equivalentTo"} xref: MESH:C566675 {source="MONDO:equivalentTo"} xref: NCIT:C132826 {source="MONDO:equivalentTo"} xref: OMIM:182960 {source="MONDO:equivalentTo", source="Orphanet:139518", source="Orphanet:139518/e"} xref: Orphanet:139518 {source="MONDO:equivalentTo", source="OMIM:182960"} xref: UMLS:C1866784 {source="NCIT:C132826", source="MONDO:equivalentTo", source="Orphanet:139518", source="MONDO:ncbi_mim2gene_medline", source="OMIM:182960"} is_a: MONDO:0000075 {source="DC-OMIM:182960"} ! neuronopathy, distal hereditary motor is_a: MONDO:0015362 {source="Orphanet:139518"} ! autosomal dominant distal hereditary motor neuropathy is_a: MONDO:0015626 {source="NCIT:C132826"} ! Charcot-Marie-Tooth disease property_value: exactMatch DOID:0111200 property_value: exactMatch http://identifiers.org/mesh/C566675 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866784 property_value: exactMatch https://omim.org/entry/182960 property_value: exactMatch NCIT:C132826 property_value: exactMatch Orphanet:139518 [Term] id: MONDO:0008452 name: spinal muscular atrophy, facioscapulohumeral type synonym: "Fshsma" RELATED [OMIM:182970] synonym: "spinal muscular atrophy, facioscapulohumeral type" EXACT [OMIM:182970] xref: MESH:C566674 {source="MONDO:equivalentTo"} xref: OMIM:182970 {source="MONDO:equivalentTo"} xref: UMLS:C1866783 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:182970"} is_a: EFO:0008525 {source="DC-OMIM:182970", source="MESH:C566674"} ! spinal muscular atrophy property_value: exactMatch http://identifiers.org/mesh/C566674 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866783 property_value: exactMatch https://omim.org/entry/182970 [Term] id: MONDO:0008453 name: adult-onset proximal spinal muscular atrophy, autosomal dominant subset: ordo_disease {source="Orphanet:209335"} synonym: "autosomal dominant adult-onset proximal SMA" EXACT [Orphanet:209335] synonym: "autosomal dominant adult-onset proximal spinal muscular atrophy" RELATED [Orphanet:209335] synonym: "autosomal dominant late-onset spinal muscular atrophy, Finkel type" EXACT [Orphanet:209335] synonym: "Finkel disease" EXACT [Orphanet:209335] synonym: "Finkel late-adult type Sma" RELATED [OMIM:182980] synonym: "SMAFK" RELATED ABBREVIATION [MONDO:Lexical, OMIM:182980] synonym: "spinal muscular atrophy, late-onset, FINKEL type" RELATED [MONDO:Lexical, OMIM:182980] synonym: "spinal muscular atrophy, proximal, adult, autosomal dominant" RELATED [OMIM:182980] xref: DOID:0111194 {source="MONDO:equivalentTo"} xref: OMIM:182980 {source="Orphanet:209335/e", source="MONDO:equivalentTo", source="Orphanet:209335"} xref: Orphanet:209335 {source="MONDO:equivalentTo", source="OMIM:182980"} xref: UMLS:CN200940 {source="MONDO:equivalentTo"} is_a: MONDO:0016224 {source="Orphanet:209335"} ! autosomal dominant proximal spinal muscular atrophy property_value: exactMatch DOID:0111194 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200940 property_value: exactMatch https://omim.org/entry/182980 property_value: exactMatch Orphanet:209335 [Term] id: MONDO:0008457 name: spinocerebellar ataxia type 6 def: "Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." [Orphanet:98758] subset: gard_rare {source="GARD:0010351"} subset: ordo_disease {source="Orphanet:98758"} synonym: "autosomal dominant cerebellar ataxia type III caused by mutation in CACNA1A" EXACT [MONDO:design_pattern] synonym: "CACNA1A autosomal dominant cerebellar ataxia type III" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SCA6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:183086, Orphanet:98758] synonym: "spinocerebellar ataxia 6" RELATED [GARD:0010351, MONDO:Lexical, OMIM:183086] synonym: "spinocerebellar ataxia type 6" EXACT [MONDORULE:1, OMIM:183086] xref: DOID:0050956 {source="MONDO:equivalentTo"} xref: NCIT:C142838 {source="MONDO:equivalentTo"} xref: OMIM:183086 {source="MONDO:equivalentTo", source="Orphanet:98758", source="DOID:0050956", source="Orphanet:98758/e"} xref: Orphanet:98758 {source="MONDO:equivalentTo", source="OMIM:183086"} xref: SCTID:715752006 {source="MONDO:equivalentTo"} xref: UMLS:C0752124 {source="MONDO:equivalentTo", source="Orphanet:98758", source="MONDO:ncbi_mim2gene_medline", source="OMIM:183086", source="Orphanet:98758/e"} is_a: MONDO:0019793 {source="MONDO:Redundant", source="Orphanet:98758"} ! autosomal dominant cerebellar ataxia type III is_a: MONDO:0100254 {source="https://clinicalgenome.org/affiliation/40006/"} ! CACNA1A-related complex neurodevelopmental disorder is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch DOID:0050956 property_value: exactMatch http://identifiers.org/snomedct/715752006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0752124 property_value: exactMatch https://omim.org/entry/183086 property_value: exactMatch NCIT:C142838 property_value: exactMatch Orphanet:98758 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5753 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10351/spinocerebellar-ataxia-type-6 xsd:anyURI {source="GARD:0010351"} [Term] id: MONDO:0008458 name: spinocerebellar ataxia type 2 def: "A subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." [https://orcid.org/0000-0001-5208-3432, Orphanet:98756] subset: ordo_disease {source="Orphanet:98756"} subset: predisposition synonym: "ALS13" RELATED DEPRECATED [DOID:0060204, OMIM:183090] synonym: "amyotrophic lateral sclerosis 13" RELATED DEPRECATED [DOID:0060204, OMIM:183090] synonym: "amyotrophic lateral sclerosis type 13" RELATED [DOID:0060204] synonym: "amyotrophic lateral sclerosis, susceptibility to, 13" RELATED [OMIM:183090] synonym: "ATXN2 autosomal dominant cerebellar ataxia type I" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant cerebellar ataxia type I caused by mutation in ATXN2" EXACT [MONDO:design_pattern] synonym: "cerebellar Degeneration with slow eye movements" RELATED [OMIM:183090] synonym: "olivopontocerebellar atrophy 2" RELATED [OMIM:183090] synonym: "olivopontocerebellar atrophy Holguin type" RELATED [GARD:0004072] synonym: "olivopontocerebellar atrophy, Holguin type" RELATED [OMIM:183090] synonym: "OPCA2" EXACT ABBREVIATION [NCIT:C148315] synonym: "SCA 2" RELATED [GARD:0004072] synonym: "SCA2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:183090, Orphanet:98756] synonym: "spinocerebellar ataxia 2" RELATED [MONDO:Lexical, OMIM:183090] synonym: "spinocerebellar ataxia Cuban type" RELATED [GARD:0004072] synonym: "spinocerebellar ataxia type 2" EXACT [MONDORULE:1, OMIM:183090] synonym: "spinocerebellar ataxia with slow eye movements" RELATED [GARD:0004072] synonym: "spinocerebellar ataxia, Cuban type" RELATED [OMIM:183090] synonym: "spinocerebellar atrophy 2" RELATED [OMIM:183090] synonym: "spinocerebellar Degeneration with slow eye movements" RELATED [OMIM:183090] synonym: "Wadia swami syndrome" RELATED [GARD:0004072] synonym: "Wadia-swami syndrome" RELATED [OMIM:183090] xref: DOID:0050955 {source="MONDO:equivalentTo"} xref: DOID:0060204 {source="MONDO:equivalentTo"} xref: NCIT:C148315 {source="MONDO:equivalentTo"} xref: OMIM:183090 {source="Orphanet:98756", source="MONDO:equivalentTo", source="DOID:0050955", source="Orphanet:98756/e"} xref: Orphanet:98756 {source="OMIM:183090", source="MONDO:equivalentTo"} xref: SCTID:715751004 {source="MONDO:equivalentTo"} xref: UMLS:C0752121 {source="OMIM:183090", source="Orphanet:98756", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:98756/e"} is_a: EFO:0001356 {source="DC-OMIM:183090", source="DOID:0060204", source="MONDO:Redundant", source="OMIM:183090"} ! familial amyotrophic lateral sclerosis is_a: MONDO:0015548 {source="Orphanet:98756"} ! Huntington disease-like syndrome is_a: MONDO:0019792 {source="MONDO:Redundant", source="Orphanet:98756"} ! autosomal dominant cerebellar ataxia type I property_value: exactMatch DOID:0050955 property_value: exactMatch DOID:0060204 property_value: exactMatch http://identifiers.org/snomedct/715751004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0752121 property_value: exactMatch https://omim.org/entry/183090 property_value: exactMatch NCIT:C148315 property_value: exactMatch Orphanet:98756 [Term] id: MONDO:0008460 name: splenogonadal fusion-limb defects-micrognathia syndrome def: "Splenogonadal fusion-limb defects-micrognatia syndrome is a rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations." [Orphanet:2063] subset: ordo_malformation_syndrome {source="Orphanet:2063"} synonym: "SGFLD syndrome" EXACT [Orphanet:2063] synonym: "Sgfld syndrome" RELATED [OMIM:183300] synonym: "splenogonadal fusion limb defect syndrome" RELATED [OMIM:183300] synonym: "splenogonadal fusion limb defects micrognatia" RELATED [GARD:0004963] synonym: "splenogonadal fusion limb defects syndrome" RELATED [GARD:0004963] synonym: "splenogonadal fusion with limb defects and micrognathia" RELATED [OMIM:183300] xref: MESH:C537318 {source="MONDO:equivalentTo"} xref: OMIM:183300 {source="Orphanet:2063/e", source="MONDO:equivalentTo", source="Orphanet:2063"} xref: Orphanet:2063 {source="MONDO:equivalentTo", source="OMIM:183300"} xref: SCTID:726724005 {source="MONDO:equivalentTo"} xref: UMLS:C1866745 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2063", source="OMIM:183300"} is_a: MONDO:0015214 {source="Orphanet:2063"} ! syndromic visceral malformation is_a: MONDO:0015334 {source="Orphanet:2063"} ! branchial arch or oral-acral syndrome is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation property_value: exactMatch http://identifiers.org/mesh/C537318 property_value: exactMatch http://identifiers.org/snomedct/726724005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866745 property_value: exactMatch https://omim.org/entry/183300 property_value: exactMatch Orphanet:2063 [Term] id: MONDO:0008465 name: Patterson-Stevenson-Fontaine syndrome def: "Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies." [Orphanet:2439] subset: gard_rare {source="GARD:0004260"} subset: ordo_malformation_syndrome {source="Orphanet:2439"} synonym: "Patterson Stevenson Fontaine syndrome" RELATED [GARD:0004260] synonym: "Patterson-Stevenson syndrome" EXACT [Orphanet:2439] synonym: "Patterson-Stevenson-Fontaine syndrome" EXACT [OMIM:183700] synonym: "split foot deformity-mandibulofacial dysostosis syndrome" EXACT [Orphanet:2439] synonym: "split-foot deformity with ectrodactyly and mandibulofacial dysostosis" RELATED [GARD:0004260] synonym: "split-foot deformity with mandibulofacial dysostosis" RELATED [OMIM:183700] xref: OMIM:183700 {source="Orphanet:2439/e", source="MONDO:equivalentTo", source="Orphanet:2439"} xref: Orphanet:2439 {source="OMIM:183700", source="MONDO:equivalentTo"} xref: SCTID:724069009 {source="MONDO:equivalentTo"} xref: UMLS:C1866741 {source="Orphanet:2439/e", source="OMIM:183700", source="MONDO:equivalentObsolete", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2439"} is_a: MONDO:0015334 {source="Orphanet:2439"} ! branchial arch or oral-acral syndrome is_a: MONDO:0018237 {source="Orphanet:2439"} ! acrofacial dysostosis property_value: exactMatch http://identifiers.org/snomedct/724069009 property_value: exactMatch https://omim.org/entry/183700 property_value: exactMatch Orphanet:2439 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4260/patterson-stevenson-fontaine-syndrome xsd:anyURI {source="GARD:0004260"} [Term] id: MONDO:0008466 name: Karsch-Neugebauer syndrome def: "Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus." [Orphanet:2329] subset: ordo_malformation_syndrome {source="Orphanet:2329"} synonym: "Karsch-Neugebauer syndrome" EXACT [OMIM:183800] synonym: "KNS" RELATED ABBREVIATION [GARD:0004967] synonym: "Nystagmus-split hand syndrome" RELATED [OMIM:183800] synonym: "split hand nystagmus syndrome" RELATED [GARD:0004967] synonym: "split hand split foot nystagmus" RELATED [GARD:0004967] synonym: "split hand/split foot-nystagmus syndrome" EXACT [Orphanet:2329] synonym: "split-hand with congenital NYSTAGMUS, fundal changes, and cataracts" RELATED [OMIM:183800] xref: MESH:C537319 {source="Orphanet:2329/e", source="MONDO:equivalentTo", source="Orphanet:2329"} xref: OMIM:183800 {source="Orphanet:2329/e", source="MONDO:equivalentTo", source="Orphanet:2329"} xref: Orphanet:2329 {source="OMIM:183800", source="MONDO:equivalentTo"} xref: SCTID:722032005 {source="MONDO:equivalentTo"} xref: UMLS:C1866740 {source="OMIM:183800", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2329"} is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation property_value: exactMatch http://identifiers.org/mesh/C537319 property_value: exactMatch http://identifiers.org/snomedct/722032005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866740 property_value: exactMatch https://omim.org/entry/183800 property_value: exactMatch Orphanet:2329 [Term] id: MONDO:0008467 name: Czeizel-Losonci syndrome def: "Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987." [Orphanet:2437] subset: ordo_malformation_syndrome {source="Orphanet:2437"} synonym: "split hand urinary anomalies spina bifida" RELATED [GARD:0004969] synonym: "split hand with obstructive uropathy, spina bifida and diaphragmatic defects" EXACT [Orphanet:2437] synonym: "split hand-urinary anomalies-spina bifida syndrome" EXACT [Orphanet:2437] synonym: "split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects" RELATED [OMIM:183802] xref: MESH:C566662 {source="MONDO:equivalentTo"} xref: OMIM:183802 {source="MONDO:equivalentTo", source="Orphanet:2437", source="Orphanet:2437/e"} xref: Orphanet:2437 {source="OMIM:183802", source="MONDO:equivalentTo"} xref: UMLS:C1866739 {source="OMIM:183802", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2437"} is_a: MONDO:0015161 {source="Orphanet:2437"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015620 {source="Orphanet:2437"} ! syndromic urogenital tract malformation property_value: exactMatch http://identifiers.org/mesh/C566662 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866739 property_value: exactMatch https://omim.org/entry/183802 property_value: exactMatch Orphanet:2437 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2437"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0008469 name: spondyloepimetaphyseal dysplasia-hypotrichosis syndrome def: "A rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings." [https://orcid.org/0000-0001-5208-3432, Orphanet:168443] subset: ordo_disease {source="Orphanet:168443"} synonym: "spondyloepimetaphyseal dysplasia with hypotrichosis" RELATED [OMIM:183849] synonym: "Whyte Petersen McAlister syndrome" RELATED [GARD:0010101] synonym: "Whyte syndrome" RELATED [OMIM:183849] xref: MESH:C535783 {source="Orphanet:168443", source="MONDO:equivalentTo", source="Orphanet:168443/e"} xref: OMIM:183849 {source="Orphanet:168443", source="MONDO:equivalentTo", source="Orphanet:168443/e"} xref: Orphanet:168443 {source="MONDO:equivalentTo", source="OMIM:183849"} xref: UMLS:C1866728 {source="Orphanet:168443", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:183849", source="Orphanet:168443/e"} is_a: MONDO:0100510 {source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia property_value: exactMatch http://identifiers.org/mesh/C535783 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866728 property_value: exactMatch https://omim.org/entry/183849 property_value: exactMatch Orphanet:168443 property_value: excluded_subClassOf MONDO:0016761 {source="Orphanet:168443"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5280 xsd:anyURI [Term] id: MONDO:0008471 name: spondyloepiphyseal dysplasia congenita def: "A chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies." [https://orcid.org/0000-0001-5208-3432, Orphanet:94068] subset: gard_rare {source="GARD:0004987"} subset: ordo_disease {source="Orphanet:94068"} synonym: "congenital spondyloepiphyseal dysplasia" RELATED [https://orcid.org/0000-0001-8612-1062, Orphanet:94068] synonym: "SED congenita" EXACT [OMIM:183900] synonym: "SEDC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:183900, Orphanet:94068] synonym: "spondyloepiphyseal dysplasia congenita" EXACT [MONDO:Lexical, OMIM:183900] synonym: "spondyloepiphyseal dysplasia, congenital type" EXACT [OMIM:183900] synonym: "Spranger-Wiedemann disease" EXACT [Orphanet:94068] xref: DOID:14789 {source="MONDO:equivalentTo"} xref: ICD10CM:Q77.7 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:94068", source="Orphanet:94068/attributed", source="Orphanet:94068/ntbt"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10062920 {source="Orphanet:94068", source="Orphanet:94068/e"} xref: MESH:C535788 {source="Orphanet:94068", source="MONDO:equivalentTo", source="Orphanet:94068/e"} xref: OMIM:183900 {source="DOID:14789", source="Orphanet:94068", source="MONDO:equivalentTo", source="Orphanet:94068/e"} xref: Orphanet:94068 {source="OMIM:183900", source="MONDO:equivalentTo"} xref: SCTID:278713008 {source="MONDO:equivalentTo"} is_a: MONDO:0016761 {source="Orphanet:94068"} ! spondyloepiphyseal dysplasia is_a: MONDO:0022800 {source="Orphanet:94068", source="PMID:31633310"} ! type 2 collagenopathy property_value: broadMatch http://purl.bioontology.org/ontology/ICD10CM/Q77.7 property_value: closeMatch http://identifiers.org/meddra/10062920 property_value: exactMatch DOID:14789 property_value: exactMatch http://identifiers.org/mesh/C535788 property_value: exactMatch http://identifiers.org/snomedct/278713008 property_value: exactMatch https://omim.org/entry/183900 property_value: exactMatch Orphanet:94068 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5285 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4987/spondyloepiphyseal-dysplasia-congenita xsd:anyURI {source="GARD:0004987"} [Term] id: MONDO:0008472 name: spondyloepiphyseal dysplasia, MacDermot type def: "Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness." [Orphanet:163668] subset: ordo_malformation_syndrome {source="Orphanet:163668"} synonym: "spondyloepiphyseal dysplasia, myopia, and sensorineural deafness" RELATED [OMIM:184000] synonym: "spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome" EXACT [Orphanet:163668] xref: MESH:C566659 {source="MONDO:equivalentTo"} xref: OMIM:184000 {source="Orphanet:163668/e", source="MONDO:equivalentTo", source="Orphanet:163668"} xref: Orphanet:163668 {source="MONDO:equivalentTo", source="OMIM:184000"} xref: UMLS:C1866719 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:184000", source="Orphanet:163668"} is_a: MONDO:0016761 {source="Orphanet:163668"} ! spondyloepiphyseal dysplasia property_value: exactMatch http://identifiers.org/mesh/C566659 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866719 property_value: exactMatch https://omim.org/entry/184000 property_value: exactMatch Orphanet:163668 [Term] id: MONDO:0008473 name: spondyloepimetaphyseal dysplasia, Maroteaux type def: "A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis." [Orphanet:263482] subset: ordo_disease {source="Orphanet:263482"} synonym: "brachyolmia Maroteaux type" RELATED [GARD:0000994] synonym: "pseudo-Morquio syndrome type 2" EXACT [Orphanet:263482] synonym: "pseudo-Morquio syndrome, type 2" RELATED [OMIM:184095] synonym: "SED, Maroteaux type" EXACT [OMIM:184095] synonym: "spondyloepimetaphyseal dysplasia, Maroteaux type" EXACT [https://orcid.org/0000-0003-4972-2947, PMID:14755468, PMID:20503319, PMID:31633310] synonym: "spondyloepiphyseal dysplasia Maroteaux type" EXACT [GARD:0000994] synonym: "spondyloepiphyseal dysplasia, Maroteaux type" EXACT [OMIM:184095] xref: DOID:0111553 {source="MONDO:equivalentTo"} xref: OMIM:184095 {source="Orphanet:263482", source="MONDO:equivalentTo", source="Orphanet:263482/e"} xref: Orphanet:263482 {source="MONDO:equivalentTo", source="OMIM:184095"} xref: SCTID:719204007 {source="MONDO:equivalentTo"} xref: UMLS:CN202294 {source="MONDO:equivalentTo"} is_a: MONDO:0018240 {source="Orphanet:263482", source="PMID:31633310"} ! TRPV4-related bone disorder is_a: MONDO:0100510 {source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia property_value: exactMatch DOID:0111553 property_value: exactMatch http://identifiers.org/snomedct/719204007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202294 property_value: exactMatch https://omim.org/entry/184095 property_value: exactMatch Orphanet:263482 property_value: excluded_subClassOf MONDO:0016761 {source="Orphanet:263482"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2706 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5280 xsd:anyURI [Term] id: MONDO:0008476 name: spondyloepimetaphyseal dysplasia, Strudwick type def: "A spondyloepimetaphyseal dysplasia characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses)." [https://orcid.org/0000-0001-5208-3432, Orphanet:93346] subset: gard_rare {source="GARD:0000134"} subset: ordo_disease {source="Orphanet:93346"} synonym: "dappled metaphysis syndrome" RELATED [OMIM:184250] synonym: "SEMD, Strudwick type" RELATED [OMIM:184250] synonym: "Semdc" RELATED [OMIM:184250] synonym: "SEMDSTWK" RELATED ABBREVIATION [MONDO:Lexical, OMIM:184250] synonym: "SmD" RELATED [GARD:0000134] synonym: "SMED Strudwick type" RELATED [GARD:0000134] synonym: "SMED type 1" RELATED [GARD:0000134] synonym: "Smed, Strudwick type" RELATED [OMIM:184250] synonym: "Smed, type 1" RELATED [OMIM:184250] synonym: "spondyloepimetaphyseal dysplasia congenita, Strudwick type" RELATED [Orphanet:93346] synonym: "spondyloepimetaphyseal dysplasia Strudwick type" RELATED [GARD:0000134] synonym: "spondyloepimetaphyseal dysplasia, Strudwick type" EXACT [MONDO:Lexical, OMIM:184250] synonym: "spondylometaepiphyseal dysplasia congenita, Strudwick type" RELATED [OMIM:184250] synonym: "spondylometaphyseal dysplasia" RELATED [OMIM:184250] synonym: "Strudwick syndrome" RELATED [OMIM:184250] xref: DOID:0080028 {source="MONDO:equivalentTo"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:184250 {source="MONDO:equivalentTo", source="Orphanet:93346", source="DOID:0080028", source="Orphanet:93346/e"} xref: Orphanet:93346 {source="MONDO:equivalentTo", source="OMIM:184250"} xref: SCTID:702350003 {source="MONDO:equivalentTo"} is_a: MONDO:0016763 {source="OMIM:184250"} ! spondylometaphyseal dysplasia is_a: MONDO:0022800 {source="Orphanet:93346", source="PMID:31633310"} ! type 2 collagenopathy is_a: MONDO:0100510 {source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia relationship: disease_has_feature EFO:0004273 ! scoliosis property_value: exactMatch DOID:0080028 property_value: exactMatch http://identifiers.org/snomedct/702350003 property_value: exactMatch https://omim.org/entry/184250 property_value: exactMatch Orphanet:93346 property_value: excluded_subClassOf MONDO:0016761 {source="DOID:0080028", source="Orphanet:93346"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5280 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/134/spondyloepimetaphyseal-dysplasia-strudwick-type xsd:anyURI {source="GARD:0000134"} [Term] id: MONDO:0008477 name: spondylometaphyseal dysplasia, Kozlowski type def: "Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly." [Orphanet:93314] subset: gard_rare {source="GARD:0003047"} subset: ordo_disease {source="Orphanet:93314"} synonym: "Dysmorphism arthrogryposis skeletal maturation advanced" RELATED [GARD:0003047] synonym: "Jequier Kozlowski skeletal dysplasia" RELATED [GARD:0003047] synonym: "Jequier-Kozlowski syndrome" RELATED [GARD:0003047] synonym: "skeletal dysplasia Jequier-Kozlowski type" RELATED [GARD:0003047] synonym: "SmD Kozlowski type" RELATED [GARD:0003047] synonym: "SmD, Kozlowski type" RELATED [OMIM:184252] synonym: "SMDK" RELATED ABBREVIATION [MONDO:Lexical, OMIM:184252] synonym: "spondylometaphyseal dysplasia, Kozlowski type" EXACT [MONDO:Lexical, OMIM:184252] xref: DOID:0111554 {source="MONDO:equivalentTo"} xref: MESH:C535797 {source="MONDO:equivalentTo", source="Orphanet:93314", source="Orphanet:93314/e"} xref: OMIM:184252 {source="MONDO:equivalentTo", source="Orphanet:93314", source="Orphanet:93314/e"} xref: Orphanet:93314 {source="MONDO:equivalentTo", source="OMIM:184252"} is_a: MONDO:0016763 {source="DC-OMIM:184252", source="Orphanet:93314"} ! spondylometaphyseal dysplasia is_a: MONDO:0018240 {source="Orphanet:93314", source="PMID:31633310"} ! TRPV4-related bone disorder property_value: exactMatch DOID:0111554 property_value: exactMatch http://identifiers.org/mesh/C535797 property_value: exactMatch https://omim.org/entry/184252 property_value: exactMatch Orphanet:93314 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3047/spondylometaphyseal-dysplasia-kozlowski-type xsd:anyURI {source="GARD:0003047"} [Term] id: MONDO:0008478 name: spondylometaphyseal dysplasia, Schmidt type def: "Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet." [Orphanet:93316] subset: ordo_disease {source="Orphanet:93316"} synonym: "Schmid metaphyseal dysostosis" RELATED [GARD:0000504] synonym: "spondylometaphyseal dysplasia Algerian type" RELATED [GARD:0000504] synonym: "spondylometaphyseal dysplasia Schmidt type" RELATED [GARD:0000504] synonym: "spondylometaphyseal dysplasia with severe genu valgum" EXACT [OMIM:184253, Orphanet:93316] synonym: "spondylometaphyseal dysplasia, Algerian type" EXACT [OMIM:184253, Orphanet:93316] synonym: "spondylometaphyseal dysplasia, Schmidt type" EXACT [OMIM:184253] xref: DOID:0112296 {source="MONDO:equivalentTo"} xref: MESH:C535794 {source="MONDO:equivalentTo"} xref: OMIM:184253 {source="Orphanet:93316/e", source="MONDO:equivalentTo", source="Orphanet:93316"} xref: Orphanet:93316 {source="MONDO:equivalentTo", source="OMIM:184253"} xref: SCTID:719304005 {source="MONDO:equivalentTo"} is_a: MONDO:0016763 {source="DC-OMIM:184253", source="Orphanet:93316"} ! spondylometaphyseal dysplasia is_a: MONDO:0022800 {source="Orphanet:93316", source="PMID:31633310"} ! type 2 collagenopathy property_value: exactMatch DOID:0112296 property_value: exactMatch http://identifiers.org/mesh/C535794 property_value: exactMatch http://identifiers.org/snomedct/719304005 property_value: exactMatch https://omim.org/entry/184253 property_value: exactMatch Orphanet:93316 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0008479 name: spondylometaphyseal dysplasia, 'corner fracture' type def: "A type of skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies)." [Orphanet:93315] subset: gard_rare {source="GARD:0004991"} subset: ordo_disease {source="Orphanet:93315"} synonym: "SMDCF" RELATED ABBREVIATION [OMIM:184255] synonym: "spondylometaphyseal dysplasia corner fracture type" RELATED [GARD:0004991] synonym: "spondylometaphyseal dysplasia Sutcliffe type" RELATED [GARD:0004991] synonym: "spondylometaphyseal dysplasia, corner fracture type" RELATED [OMIM:184255] synonym: "spondylometaphyseal dysplasia, Sutcliffe type" EXACT [OMIM:184255, Orphanet:93315] synonym: "Sutcliffe SmD" RELATED [GARD:0004991] synonym: "Sutcliffe type of spondylometaphyseal dysplasia" RELATED [GARD:0004991] xref: DOID:0112297 {source="MONDO:equivalentTo"} xref: MESH:C535793 {source="MONDO:equivalentTo", source="Orphanet:93315", source="Orphanet:93315/e"} xref: OMIM:184255 {source="MONDO:equivalentTo", source="Orphanet:93315", source="Orphanet:93315/e"} xref: Orphanet:93315 {source="MONDO:equivalentTo", source="OMIM:184255"} xref: SCTID:254078005 {source="MONDO:equivalentTo"} xref: UMLS:C0432221 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:93315", source="OMIM:184255", source="Orphanet:93315/e"} is_a: MONDO:0016763 {source="DC-OMIM:184255", source="Orphanet:93315", source="PMID:31633310"} ! spondylometaphyseal dysplasia is_a: MONDO:0022800 {source="PMID:31633310"} ! type 2 collagenopathy property_value: exactMatch DOID:0112297 property_value: exactMatch http://identifiers.org/mesh/C535793 property_value: exactMatch http://identifiers.org/snomedct/254078005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432221 property_value: exactMatch https://omim.org/entry/184255 property_value: exactMatch Orphanet:93315 property_value: excluded_subClassOf MONDO:0019686 {source="Orphanet:93315"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4991/spondylometaphyseal-dysplasia-corner-fracture-type xsd:anyURI {source="GARD:0004991"} [Term] id: MONDO:0008484 name: stapes ankylosis with broad thumbs and toes def: "Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia." [Orphanet:140917] subset: ordo_malformation_syndrome {source="Orphanet:140917"} synonym: "ankylosis of stapes, hyperopia, Broad thumbs, Broad first toes, and syndactyly" RELATED [OMIM:184460] synonym: "stapes ankylosis syndrome without symphalangism" RELATED [OMIM:184460] synonym: "stapes ankylosis with BROAD thumb and toes" RELATED [OMIM:184460] synonym: "Teunissen-Cremers syndrome" EXACT [OMIM:184460, Orphanet:140917] xref: OMIM:184460 {source="Orphanet:140917", source="MONDO:equivalentTo", source="Orphanet:140917/e"} xref: Orphanet:140917 {source="MONDO:equivalentTo", source="OMIM:184460"} xref: SCTID:719305006 {source="MONDO:equivalentTo"} xref: UMLS:C1866656 {source="Orphanet:140917", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:184460"} is_a: MONDO:0100521 {source="PMID:21538686", source="https://orcid.org/0009-0009-9147-3105"} ! NOG-related symphalangism spectrum disorder property_value: exactMatch http://identifiers.org/snomedct/719305006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866656 property_value: exactMatch https://omim.org/entry/184460 property_value: exactMatch Orphanet:140917 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6338 xsd:string [Term] id: MONDO:0008485 name: sebocystomatosis def: "Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities." [Orphanet:841] subset: ordo_disease {source="Orphanet:841"} synonym: "multiple sebaceous cysts" RELATED [GARD:0005003] synonym: "multiplex steatocystoma" RELATED [GARD:0005003] synonym: "sebaceous cysts, multiple" RELATED [OMIM:184500] synonym: "STEATOCYSTOMA multiplex" RELATED [OMIM:184500] synonym: "Steatocystoma multiplex" EXACT [Orphanet:841] xref: DOID:0111556 {source="MONDO:equivalentTo"} xref: OMIM:184500 {source="Orphanet:841", source="MONDO:equivalentTo", source="Orphanet:841/e"} xref: Orphanet:841 {source="MONDO:equivalentTo", source="OMIM:184500"} xref: SCTID:109433009 {source="MONDO:equivalentTo"} xref: UMLS:C0259771 {source="Orphanet:841", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:184500"} xref: UMLS:C3671377 {source="Orphanet:841", source="MONDO:equivalentTo"} is_a: MONDO:0019286 {source="Orphanet:841"} ! sebaceous gland anomaly property_value: exactMatch DOID:0111556 property_value: exactMatch http://identifiers.org/snomedct/109433009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0259771 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3671377 property_value: exactMatch https://omim.org/entry/184500 property_value: exactMatch Orphanet:841 [Term] id: MONDO:0008486 name: steatocystoma multiplex-natal teeth syndrome def: "The syndrome steatocystoma multiplex and natal teeth is characterized by generalized multiple steatocystomas and natal teeth." [Orphanet:3184] subset: ordo_malformation_syndrome {source="Orphanet:3184"} synonym: "Natal teeth and steatocystoma multiplex" RELATED [GARD:0005004] synonym: "STEATOCYSTOMA multiplex with NATAL teeth" RELATED [OMIM:184510] xref: MESH:C537487 {source="Orphanet:3184/e", source="MONDO:equivalentTo", source="Orphanet:3184"} xref: OMIM:184510 {source="Orphanet:3184/e", source="MONDO:equivalentTo", source="Orphanet:3184"} xref: Orphanet:3184 {source="MONDO:equivalentTo", source="OMIM:184510"} xref: UMLS:C1866650 {source="Orphanet:3184/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3184", source="OMIM:184510"} is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:3184", source="Orphanet:3184/inferred"} ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C537487 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866650 property_value: exactMatch https://omim.org/entry/184510 property_value: exactMatch Orphanet:3184 property_value: excluded_subClassOf MONDO:0021029 {source="Orphanet:3184"} [Term] id: MONDO:0008488 name: holoprosencephaly-radial heart renal anomalies syndrome def: "Holoprosencephaly-radial heart renal anomalies syndrome is characterized by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder." [Orphanet:3186] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:3186"} synonym: "holoprosencephaly radial heart renal anomalies" RELATED [GARD:0002727] synonym: "STEINFELD syndrome" RELATED [OMIM:184705] synonym: "Steinfeld syndrome" EXACT [Orphanet:3186] xref: MESH:C566655 {source="MONDO:equivalentTo"} xref: OMIM:184705 {source="Orphanet:3186/e", source="MONDO:equivalentTo", source="GARD:0002727", source="Orphanet:3186"} xref: Orphanet:3186 {source="MONDO:equivalentTo", source="OMIM:184705", source="GARD:0002727"} xref: SCTID:716233007 {source="MONDO:equivalentTo"} xref: UMLS:C1866649 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:184705", source="Orphanet:3186"} is_a: MONDO:0015159 {source="Orphanet:3186"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C566655 property_value: exactMatch http://identifiers.org/snomedct/716233007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866649 property_value: exactMatch https://omim.org/entry/184705 property_value: exactMatch Orphanet:3186 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3186"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2727/steinfeld-syndrome xsd:anyURI {source="GARD:0002727"} [Term] id: MONDO:0008490 name: otospondylomegaepiphyseal dysplasia, autosomal dominant def: "A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities." [Orphanet:166100] subset: gard_rare {source="GARD:0005021"} subset: ordo_malformation_syndrome {source="Orphanet:166100", source="Orphanet:3450"} synonym: "COL11A2 Stickler syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "heterozygous OSMED" EXACT [Orphanet:3450] synonym: "heterozygous otospondylomegaepiphyseal dysplasia" EXACT [Orphanet:3450] synonym: "OSMED, heterozygous" EXACT [OMIM:184840] synonym: "OSMEDA" EXACT ABBREVIATION [OMIM:184840] synonym: "otospondylomegaepiphyseal dysplasia, autosomal dominant" EXACT [OMIM:184840] synonym: "Piere-Robin syndrome" EXACT [DOID:4258] synonym: "Pierre Robin malformation" EXACT [DOID:4258] synonym: "Pierre Robin sequence-fetal chondrodysplasia syndrome" EXACT [Orphanet:3450] synonym: "Pierre Robin syndrome with fetal chondrodysplasia" EXACT [OMIM:277610] synonym: "Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type" EXACT [OMIM:184840] synonym: "Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type, formerly" EXACT [OMIM:184840] synonym: "Pierre Robin syndrome with foetal chondrodysplasia" EXACT OMO:0003005 [] synonym: "Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type" EXACT OMO:0003005 [] synonym: "Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type, formerly" EXACT OMO:0003005 [] synonym: "Pierre Robin syndrome-fetal chondrodysplasia syndrome" EXACT [Orphanet:3450] synonym: "Stickler syndrome caused by mutation in COL11A2" EXACT [MONDO:design_pattern] synonym: "Stickler syndrome nonocular type" RELATED [GARD:0005021] synonym: "Stickler syndrome, non-ocular type" EXACT [Orphanet:166100] synonym: "Stickler syndrome, Nonocular type" RELATED [OMIM:184840] synonym: "Stickler syndrome, type 3" EXACT [GARD:0005021] synonym: "STICKLER syndrome, type III" EXACT [MONDO:Lexical, OMIM:184840] synonym: "Stickler syndrome, type III, formerly" EXACT [OMIM:184840] synonym: "STL3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:184840] synonym: "Weissenbacher- Zweymuller syndrome" RELATED [Orphanet:3450] synonym: "Weissenbacher-Zweymuller syndrome" EXACT [MONDO:0010195, MONDO:Lexical, OMIM:277610] synonym: "Weissenbacher-Zweymüller syndrome" RELATED [GARD:0004351] synonym: "WZS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:277610] xref: DOID:0080677 {source="MONDO:equivalentTo"} xref: DOID:4258 {source="MONDO:equivalentTo"} xref: MESH:C535776 {source="MONDO:equivalentTo"} xref: MESH:C537494 {source="Orphanet:166100", source="MONDO:equivalentTo", source="Orphanet:166100/e"} xref: OMIM:184840 {source="Orphanet:166100", source="MONDO:equivalentTo", source="Orphanet:166100/e"} xref: OMIM:277610 {source="MONDO:equivalentObsolete", source="Orphanet:3450/e", source="Orphanet:3450"} xref: Orphanet:166100 {source="MONDO:equivalentTo", source="OMIM:184840"} xref: Orphanet:3450 {source="MONDO:equivalentObsolete", source="OMIM:277610"} xref: SCTID:4602007 {source="MONDO:relatedTo", source="DOID:4258"} xref: SCTID:699313003 {source="MONDO:equivalentTo"} is_a: MONDO:0008975 {source="OMIM:184840"} ! otospondylomegaepiphyseal dysplasia is_a: MONDO:0015161 {source="Orphanet:166100"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0018187 ! hereditary syndromic Pierre Robin syndrome is_a: MONDO:0018751 ! hereditary otorhinolaryngologic disease is_a: MONDO:0800087 {source="PMID:31633310"} ! type 11 collagen-related bone disorder relationship: disease_has_feature MONDO:0004603 ! collagenopathy property_value: exactMatch DOID:0080677 property_value: exactMatch DOID:4258 property_value: exactMatch http://identifiers.org/mesh/C535776 property_value: exactMatch http://identifiers.org/mesh/C537494 property_value: exactMatch http://identifiers.org/snomedct/699313003 property_value: exactMatch https://omim.org/entry/184840 property_value: exactMatch Orphanet:166100 property_value: excluded_subClassOf MONDO:0019354 {source="DC-OMIM:184840"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0008492 name: stiff skin syndrome def: "A rare syndrome characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position (flexion contractures). The onset of signs and symptoms can range from presenting at birth through childhood. Other signs and symptoms may include excessive hair growth (hypertrichosis), loss of body fat (lipodystrophy), scoliosis, muscle weakness, slow growth, and short stature. Weakness or paralysis of the eye muscles have also been reported. Stiff skin syndrome is caused by mutations (changes) in the FBN1 gene and is inherited in an autosomal dominant manner. Diagnosis is based on a clinical evaluation that is consistent with stiff skin syndrome, and the diagnosis can be confirmed with genetic testing. Treatment is based on the symptoms of each individual and may include physical therapy." [https://rarediseases.info.nih.gov/diseases/5025/stiff-skin-syndrome] subset: gard_rare {source="GARD:0005025"} subset: ordo_disease {source="Orphanet:2833"} synonym: "SSKS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:184900] synonym: "STIFF skin syndrome" RELATED [OMIM:184900] synonym: "stiff skin syndrome" EXACT [MONDO:Lexical, OMIM:184900] xref: DOID:0111561 {source="MONDO:equivalentTo"} xref: MESH:C566112 {source="MONDO:equivalentTo"} xref: NCIT:C118636 {source="MONDO:equivalentTo"} xref: OMIM:184900 {source="MONDO:equivalentTo", source="Orphanet:2833", source="Orphanet:2833/e"} xref: Orphanet:2833 {source="OMIM:184900", source="MONDO:equivalentTo"} xref: SCTID:765187004 {source="MONDO:equivalentTo"} xref: UMLS:C1861456 {source="OMIM:184900", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C118636", source="Orphanet:2833"} is_a: EFO:0000701 {source="Orphanet:2833", source="https://orcid.org/0000-0001-5208-3432"} ! skin disease property_value: exactMatch DOID:0111561 property_value: exactMatch http://identifiers.org/mesh/C566112 property_value: exactMatch http://identifiers.org/snomedct/765187004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861456 property_value: exactMatch https://omim.org/entry/184900 property_value: exactMatch NCIT:C118636 property_value: exactMatch Orphanet:2833 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5025/stiff-skin-syndrome xsd:anyURI {source="GARD:0005025"} [Term] id: MONDO:0008493 name: overhydrated hereditary stomatocytosis def: "Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia." [Orphanet:3203] subset: ordo_disease {source="Orphanet:3203"} synonym: "OHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:185000] synonym: "OHST" RELATED ABBREVIATION [OMIM:185000] synonym: "OVERHYDRATED hereditary stomatocytosis" RELATED [OMIM:185000] synonym: "overhydrated hereditary stomatocytosis" EXACT [MONDO:Lexical, OMIM:185000] synonym: "Potassium sodium disorder of erythrocyte" RELATED [GARD:0004183] synonym: "Potassium-sodium disorder of erythrocyte" RELATED [OMIM:185000] synonym: "stomatocytosis 1" RELATED [OMIM:185000] synonym: "stomatocytosis I" RELATED [GARD:0004183] xref: DOID:0111562 {source="MONDO:equivalentTo"} xref: MESH:C566111 {source="MONDO:equivalentTo"} xref: OMIM:185000 {source="Orphanet:3203", source="MONDO:equivalentTo", source="Orphanet:3203/e"} xref: Orphanet:3203 {source="MONDO:equivalentTo", source="OMIM:185000"} xref: SCTID:722125003 {source="MONDO:equivalentTo"} xref: UMLS:C1861455 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:185000"} is_a: MONDO:0020102 {source="Orphanet:3203"} ! hereditary stomatocytosis property_value: exactMatch DOID:0111562 property_value: exactMatch http://identifiers.org/mesh/C566111 property_value: exactMatch http://identifiers.org/snomedct/722125003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861455 property_value: exactMatch https://omim.org/entry/185000 property_value: exactMatch Orphanet:3203 [Term] id: MONDO:0008494 name: cryohydrocytosis def: "A rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade." [Orphanet:398088] subset: ordo_disease {source="Orphanet:398088"} synonym: "CHC" EXACT ABBREVIATION [OMIM:185020] synonym: "cryohydrocytosis" EXACT [OMIM:185020] synonym: "hereditary cryohydrocytosis with normal stomatin" EXACT [Orphanet:398088] synonym: "pseudohyperkalemia Cardiff" RELATED [OMIM:185020] synonym: "stomatocytosis, cold-sensitive" EXACT [OMIM:185020] xref: MESH:C535827 {source="MONDO:equivalentTo"} xref: OMIM:185020 {source="Orphanet:398088", source="MONDO:equivalentTo", source="Orphanet:398088/e"} xref: Orphanet:398088 {source="MONDO:equivalentTo"} xref: UMLS:C1861453 {source="MONDO:equivalentTo", source="OMIM:185020", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0020102 ! hereditary stomatocytosis property_value: exactMatch http://identifiers.org/mesh/C535827 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861453 property_value: exactMatch https://omim.org/entry/185020 property_value: exactMatch Orphanet:398088 [Term] id: MONDO:0008497 name: Stormorken syndrome def: "Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait." [Orphanet:3204] subset: ordo_disease {source="Orphanet:3204"} synonym: "Stormorken syndrome" EXACT [MONDO:Lexical, OMIM:185070, Orphanet:3204] synonym: "Stormorken-Sjaastad-Langslet syndrome" RELATED [Orphanet:3204] synonym: "STRMK" RELATED ABBREVIATION [MONDO:Lexical, OMIM:185070] synonym: "Thrombocytopathy asplenia miosis" RELATED [GARD:0005188] synonym: "thrombocytopathy, asplenia and miosis" EXACT [DOID:0060354] synonym: "Thrombocytopathy, asplenia, and miosis" RELATED [OMIM:185070] synonym: "Thrombocytopathy-asplenia-miosis syndrome" EXACT [Orphanet:3204] synonym: "york Platelet syndrome" RELATED [OMIM:185070] xref: DOID:0060354 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C566108 {source="DOID:0060354", source="MONDO:equivalentTo"} xref: OMIM:185070 {source="DOID:0060354", source="Orphanet:3204", source="MONDO:equivalentTo", source="Orphanet:3204/e"} xref: Orphanet:3204 {source="DOID:0060354", source="OMIM:185070", source="MONDO:equivalentTo"} xref: SCTID:711407000 {source="DOID:0060354", source="MONDO:equivalentTo"} xref: UMLS:C1861451 {source="DOID:0060354", source="OMIM:185070", source="Orphanet:3204", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018795 {source="Orphanet:3204"} ! syndromic constitutional thrombocytopenia property_value: exactMatch DOID:0060354 property_value: exactMatch http://identifiers.org/mesh/C566108 property_value: exactMatch http://identifiers.org/snomedct/711407000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861451 property_value: exactMatch https://omim.org/entry/185070 property_value: exactMatch Orphanet:3204 [Term] id: MONDO:0008499 name: short stature-wormian bones-dextrocardia syndrome def: "Short stature-wormian bones-dextrocardia syndrome is a multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymetry, mild developmental delay, hemimegalencephaly and facial dysmorphism, such as hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia." [Orphanet:2863] subset: ordo_malformation_syndrome {source="Orphanet:2863"} synonym: "Growth hormone deficiency with Wormian bones, Cardiac anomaly, and Brachycamptodactyly" RELATED [OMIM:185120] synonym: "short stature wormian bones dextrocardia" RELATED [GARD:0004856] synonym: "Stratton Parker syndrome" RELATED [GARD:0004856] synonym: "STRATTON-PARKER syndrome" RELATED [OMIM:185120] synonym: "Stratton-Parker syndrome" EXACT [Orphanet:2863] xref: MESH:C566105 {source="MONDO:equivalentTo"} xref: OMIM:185120 {source="Orphanet:2863", source="MONDO:equivalentTo", source="Orphanet:2863/e"} xref: Orphanet:2863 {source="MONDO:equivalentTo", source="OMIM:185120"} xref: SCTID:763631006 {source="MONDO:equivalentTo"} xref: UMLS:C1861448 {source="Orphanet:2863", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:185120"} is_a: MONDO:0015160 {source="Orphanet:2863"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C566105 property_value: exactMatch http://identifiers.org/snomedct/763631006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861448 property_value: exactMatch https://omim.org/entry/185120 property_value: exactMatch Orphanet:2863 [Term] id: MONDO:0008501 name: Sturge-Weber syndrome def: "Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." [Orphanet:3205] subset: gard_rare {source="GARD:0007706"} subset: ordo_malformation_syndrome {source="Orphanet:3205"} synonym: "Encephalofacial angiomatosis" EXACT [Orphanet:3205] synonym: "Encephalotrigeminal angiomatosis" EXACT [Orphanet:3205] synonym: "Encephalotrigeminal syndrome" EXACT [NCIT:C3391] synonym: "fourth phacomatosis" RELATED [GARD:0007706] synonym: "leptomeningeal angiomatosis" RELATED [GARD:0007706] synonym: "meningeal capillary angiomatosis" RELATED [GARD:0007706] synonym: "Sturge Weber syndrome" RELATED [GARD:0007706] synonym: "Sturge-Weber disease" EXACT [NCIT:C3391] synonym: "STURGE-WEBER syndrome" RELATED [OMIM:185300] synonym: "Sturge-Weber syndrome" EXACT [MONDO:Lexical, OMIM:185300] synonym: "Sturge-Weber syndrome, somatic, mosaic" EXACT [OMIM:185300, OMIM:genemap2] synonym: "Sturge-Weber-Dimitri syndrome" EXACT [Orphanet:3205] synonym: "Sturge-Weber-Krabbe angiomatosis" EXACT [Orphanet:3205] synonym: "Sturge-Weber-Krabbe syndrome" EXACT [Orphanet:3205] synonym: "SWS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:185300, Orphanet:3205] synonym: "SWS type I - Facial and leptomeningeal angiomas" RELATED [GARD:0007706] synonym: "SWS type II - Facial angioma alone, no CNS involvement" RELATED [GARD:0007706] synonym: "SWS type III - isolated leptomeningeal angiomas" RELATED [GARD:0007706] xref: DOID:0111563 {source="MONDO:equivalentTo"} xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10042265 {source="Orphanet:3205", source="Orphanet:3205/e"} xref: MedDRA:10057653 {source="Orphanet:3205", source="Orphanet:3205/e"} xref: MESH:D013341 {source="MONDO:equivalentTo", source="Orphanet:3205", source="Orphanet:3205/e"} xref: NCIT:C3391 {source="MONDO:equivalentTo"} xref: OMIM:185300 {source="MONDO:equivalentTo", source="Orphanet:3205", source="Orphanet:3205/e"} xref: Orphanet:3205 {source="MONDO:equivalentTo", source="OMIM:185300"} xref: SCTID:19886006 {source="MONDO:equivalentTo"} xref: UMLS:C0038505 {source="NCIT:C3391", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3205", source="OMIM:185300", source="Orphanet:3205/e"} xref: UMLS:CN204001 {source="MONDO:equivalentTo"} is_a: EFO:0003966 {source="MONDO:0020222-obsoleted"} ! eye disease is_a: MONDO:0042983 {source="MESH:D013341", source="NCIT:C3391", source="https://www.hopkinsmedicine.org"} ! neurocutaneous syndrome relationship: disease_has_feature MONDO:0015145 ! neurovascular malformation property_value: closeMatch http://identifiers.org/meddra/10042265 property_value: closeMatch http://identifiers.org/meddra/10057653 property_value: exactMatch DOID:0111563 property_value: exactMatch http://identifiers.org/mesh/D013341 property_value: exactMatch http://identifiers.org/snomedct/19886006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038505 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204001 property_value: exactMatch https://omim.org/entry/185300 property_value: exactMatch NCIT:C3391 property_value: exactMatch Orphanet:3205 property_value: excluded_subClassOf MONDO:0015145 {source="Orphanet:3205"} property_value: excluded_subClassOf MONDO:0015218 {source="Orphanet:3205"} property_value: excluded_subClassOf MONDO:0015501 {source="Orphanet:3205"} property_value: excluded_subClassOf MONDO:0015651 {source="Orphanet:3205"} property_value: excluded_subClassOf MONDO:0018719 {source="Orphanet:3205"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7706/sturge-weber-syndrome xsd:anyURI {source="GARD:0007706"} [Term] id: MONDO:0008504 name: supravalvular aortic stenosis def: "SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis." [Orphanet:3193] subset: ordo_morphological_anomaly {source="Orphanet:3193"} synonym: "aortic supravalvular stenosis" RELATED [GARD:0000743] synonym: "supra-valvular aortic stenosis" EXACT [DOID:1929] synonym: "supravalvar aortic stenosis" EXACT [OMIM:185500, OMIM:genemap2] synonym: "supravalvar aortic stenosis, Eisenberg type" RELATED [OMIM:185500] synonym: "supravalvular aortic stenosis" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:185500] synonym: "supravalvular aortic stenosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "SVAS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:185500, Orphanet:3193] xref: DOID:1929 {source="MONDO:equivalentTo"} xref: HP:0004381 {source="MONDO:otherHierarchy"} xref: MedDRA:10042598 {source="Orphanet:3193/e", source="Orphanet:3193"} xref: NCIT:C85176 {source="DOID:1929", source="MONDO:equivalentTo", source="MONDO:otherHierarchy"} xref: OMIM:185500 {source="Orphanet:3193/e", source="DOID:1929", source="MONDO:equivalentTo", source="Orphanet:3193"} xref: Orphanet:3193 {source="MONDO:equivalentTo", source="OMIM:185500"} xref: SCTID:268185002 {source="DOID:1929", source="MONDO:equivalentTo"} xref: UMLS:C0003499 {source="Orphanet:3193/e", source="DOID:1929", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3193", source="OMIM:185500"} is_a: MONDO:0017131 {source="Orphanet:3193"} ! hereditary cardiac anomaly is_a: MONDO:0042981 {source="DOID:1929"} ! aortic valve stenosis property_value: closeMatch http://identifiers.org/meddra/10042598 property_value: exactMatch DOID:1929 property_value: exactMatch http://identifiers.org/snomedct/268185002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003499 property_value: exactMatch https://omim.org/entry/185500 property_value: exactMatch NCIT:C85176 property_value: exactMatch Orphanet:3193 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000589 "supravalvular aortic stenosis (disease)" xsd:string [Term] id: MONDO:0008509 name: distal symphalangism def: "Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet." [Orphanet:3248] subset: ordo_morphological_anomaly {source="Orphanet:3248"} synonym: "distal symphalangism" EXACT [MONDO:ambiguous] synonym: "distal symphalangism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Sym2" RELATED [OMIM:185700] synonym: "symphalangism, distal" RELATED [OMIM:185700] xref: HP:0100263 {source="MONDO:otherHierarchy"} xref: MESH:C566099 {source="MONDO:equivalentTo"} xref: OMIM:185700 {source="Orphanet:3248", source="MONDO:equivalentTo", source="Orphanet:3248/e"} xref: Orphanet:3248 {source="OMIM:185700", source="MONDO:equivalentTo"} xref: UMLS:C1861401 {source="OMIM:185700", source="Orphanet:3248", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000151 {source="DC-OMIM:185700"} ! symphalangism is_a: MONDO:0017429 {source="Orphanet:3248"} ! joint formation defects property_value: exactMatch http://identifiers.org/mesh/C566099 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861401 property_value: exactMatch https://omim.org/entry/185700 property_value: exactMatch Orphanet:3248 property_value: IAO:0000589 "distal symphalangism (disease)" xsd:string [Term] id: MONDO:0008510 name: symphalangism with multiple anomalies of hands and feet def: "Symphalangism with multiple anomalies of hands and feet is an exceedingly rare syndrome described in one family and characterized by proximal symphalangism and multiple hand and feet disorders (syndactyly, clinodactyly, hypoplasia of the thenar and hypothenar eminences, and a distinctive dermatoglyphic pattern). There have been no further descriptions in the literature since 1981." [Orphanet:3246] subset: gard_rare {source="GARD:0005077"} subset: ordo_malformation_syndrome {source="Orphanet:3246"} synonym: "Learman syndrome" EXACT [Orphanet:3246] synonym: "symphalangism with multiple anomalies of hands and feet" EXACT [OMIM:185750] xref: MESH:C566098 {source="MONDO:equivalentTo"} xref: OMIM:185750 {source="Orphanet:3246", source="MONDO:equivalentTo", source="Orphanet:3246/e"} xref: Orphanet:3246 {source="MONDO:equivalentTo", source="OMIM:185750"} xref: SCTID:732955001 {source="MONDO:equivalentTo"} xref: UMLS:C1861391 {source="Orphanet:3246", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:185750"} is_a: MONDO:0000151 {source="https://orcid.org/0000-0001-5208-3432"} ! symphalangism is_a: MONDO:0018454 ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation property_value: exactMatch http://identifiers.org/mesh/C566098 property_value: exactMatch http://identifiers.org/snomedct/732955001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861391 property_value: exactMatch https://omim.org/entry/185750 property_value: exactMatch Orphanet:3246 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5077/symphalangism-with-multiple-anomalies-of-hands-and-feet xsd:anyURI {source="GARD:0005077"} [Term] id: MONDO:0008511 name: proximal symphalangism def: "Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients." [Orphanet:3250] subset: ordo_malformation_syndrome {source="Orphanet:3250"} subset: prototype_pattern synonym: "Cushing's symphalangism" EXACT [DOID:0050788] synonym: "hereditary absence of proximal interphalangeal joints" RELATED [GARD:0008182] synonym: "hereditary absence of the proximal interphalangeal joints" RELATED [OMIM:185800] synonym: "proximal symphalangism" EXACT [MONDO:ambiguous] synonym: "proximal symphalangism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Strasburger-Hawkins-Eldridge syndrome" RELATED [GARD:0008182] synonym: "Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome" RELATED [GARD:0008182] synonym: "symphalangism, Cushing type" EXACT [Orphanet:3250] synonym: "vessel’s syndrome" RELATED [GARD:0008182] xref: DOID:0050788 {source="MONDO:equivalentTo"} xref: HP:0100264 {source="MONDO:otherHierarchy"} xref: MESH:C536223 {source="Orphanet:3250/e", source="MONDO:equivalentTo", source="Orphanet:3250"} xref: OMIMPS:185800 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:3250 {source="OMIM:185800", source="MONDO:equivalentTo"} xref: UMLS:C1861385 {source="Orphanet:3250/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3250"} is_a: MONDO:0000151 {source="DC-OMIM:185800"} ! symphalangism is_a: MONDO:0000426 {source="DOID:0050788", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0018454 ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation property_value: exactMatch DOID:0050788 property_value: exactMatch http://identifiers.org/mesh/C536223 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861385 property_value: exactMatch https://omim.org/phenotypicSeries/PS185800 property_value: exactMatch Orphanet:3250 property_value: IAO:0000589 "proximal symphalangism (disease)" xsd:string [Term] id: MONDO:0008512 name: syndactyly type 1 def: "Syndactyly type 1 (SD1), also named zygodactyly in the past, is a distal limb malformation characterized by complete or partial webbing between the 3th and 4th fingers and/or the 2nd and 3rd toes." [Orphanet:93402] subset: ordo_morphological_anomaly {source="Orphanet:93402"} synonym: "chromosome 2q35 DUPLICATION syndrome" RELATED [OMIM:185900] synonym: "craniosynostosis, Philadelphia type" RELATED [OMIM:185900] synonym: "Sd1" RELATED [OMIM:185900] synonym: "SDTY1" RELATED ABBREVIATION [GARD:0005081] synonym: "syndactyly, type 1" RELATED [OMIM:185900] synonym: "syndactyly, type 1, with or without craniosynostosis" EXACT [OMIM:185900, OMIM:genemap2] synonym: "Zygodactyly" RELATED [OMIM:185900] xref: DOID:0111816 {source="MONDO:equivalentTo"} xref: OMIM:185900 {source="MONDO:equivalentTo", source="Orphanet:93402", source="Orphanet:93402/e"} xref: Orphanet:1527 {source="MONDO:relatedTo", source="OMIM:185900"} xref: Orphanet:93402 {source="OMIM:185900", source="MONDO:equivalentTo"} xref: SCTID:715723008 {source="MONDO:equivalentTo"} xref: UMLS:C1861380 {source="OMIM:185900", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:93402"} xref: UMLS:C4275033 {source="MONDO:equivalentObsolete"} is_a: MONDO:0016953 {source="https://orcid.org/0000-0002-4142-7153"} ! partial duplication of the long arm of chromosome 2 is_a: MONDO:0019530 {source="DC-OMIM:185900", source="Orphanet:93402"} ! non-syndromic syndactyly is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism property_value: exactMatch DOID:0111816 property_value: exactMatch http://identifiers.org/snomedct/715723008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861380 property_value: exactMatch https://omim.org/entry/185900 property_value: exactMatch Orphanet:93402 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0008513 name: synpolydactyly type 1 def: "Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the HOXD13 gene." [MONDO:patterns/disease_series_by_gene] comment: Editors note: check whether is_a: MONDO:0019683 is appropriate subset: ordo_clinical_subtype {source="Orphanet:295195"} synonym: "HOXD13 non-syndromic synpolydactyly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "non-syndromic synpolydactyly caused by mutation in HOXD13" EXACT [MONDO:design_pattern] synonym: "SD2, Vordingborg type" EXACT [Orphanet:295195] synonym: "SD2a" EXACT [Orphanet:295195] synonym: "SPD, Vordingborg type" EXACT [Orphanet:295195] synonym: "SPD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:186000, Orphanet:295195] synonym: "syndactyly, type 2" RELATED [OMIM:186000] synonym: "synpolydactyly 1" RELATED [MONDO:Lexical, OMIM:186000] synonym: "synpolydactyly type 1" EXACT [MONDORULE:1, OMIM:186000] synonym: "synpolydactyly with foot anomalies" RELATED [OMIM:186000] synonym: "synpolydactyly, Vordingborg type" EXACT [Orphanet:295195] xref: OMIM:186000 {source="Orphanet:295195", source="MONDO:equivalentTo", source="Orphanet:295195/e"} xref: Orphanet:295195 {source="MONDO:equivalentTo", source="OMIM:186000"} xref: UMLS:CN203278 {source="MONDO:equivalentTo"} is_a: MONDO:0000722 {source="DC-OMIM:186000", source="MONDO:Redundant"} ! non-syndromic synpolydactyly is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203278 property_value: exactMatch https://omim.org/entry/186000 property_value: exactMatch Orphanet:295195 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0008514 name: syndactyly type 3 def: "Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers." [Orphanet:93404] subset: gard_rare {source="GARD:0005088"} subset: ordo_morphological_anomaly {source="Orphanet:93404"} synonym: "GJA1 non-syndromic syndactyly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "non-syndromic syndactyly caused by mutation in GJA1" EXACT [MONDO:design_pattern] synonym: "Ring and Little finger syndactyly" RELATED [OMIM:186100] synonym: "SD3" EXACT ABBREVIATION [Orphanet:93404] synonym: "Sdty3" RELATED [OMIM:186100] synonym: "syndactyly of fingers 4 and 5" EXACT [OMIM:186100, Orphanet:93404] synonym: "syndactyly of fingers four and five" RELATED [GARD:0005088] synonym: "syndactyly of the ring and little finger" RELATED [GARD:0005088] synonym: "syndactyly, type 3" RELATED [OMIM:186100] synonym: "syndactyly, type III" RELATED [OMIM:186100] xref: DOID:0111817 {source="MONDO:equivalentTo"} xref: MESH:C538154 {source="Orphanet:93404/e", source="MONDO:equivalentTo", source="Orphanet:93404"} xref: OMIM:186100 {source="Orphanet:93404/e", source="MONDO:equivalentTo", source="Orphanet:93404"} xref: Orphanet:93404 {source="MONDO:equivalentTo", source="OMIM:186100"} xref: SCTID:715725001 {source="MONDO:equivalentTo"} xref: UMLS:C1861366 {source="Orphanet:93404/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:186100", source="Orphanet:93404"} is_a: MONDO:0019530 {source="DC-OMIM:186100", source="MONDO:Redundant", source="Orphanet:93404"} ! non-syndromic syndactyly is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism property_value: exactMatch DOID:0111817 property_value: exactMatch http://identifiers.org/mesh/C538154 property_value: exactMatch http://identifiers.org/snomedct/715725001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861366 property_value: exactMatch https://omim.org/entry/186100 property_value: exactMatch Orphanet:93404 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5088/syndactyly-type-3 xsd:anyURI {source="GARD:0005088"} [Term] id: MONDO:0008515 name: syndactyly type 4 def: "A very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5)." [https://orcid.org/0000-0001-5208-3432, Orphanet:93405] subset: gard_rare {source="GARD:0004434"} subset: ordo_morphological_anomaly {source="Orphanet:93405"} synonym: "Haas type syndactyly" RELATED [OMIM:186200] synonym: "LMBR1 non-syndromic syndactyly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "non-syndromic syndactyly caused by mutation in LMBR1" EXACT [MONDO:design_pattern] synonym: "polysyndactyly type Haas" RELATED [GARD:0004434] synonym: "polysyndactyly, Haas type" EXACT [OMIM:186200, Orphanet:93405] synonym: "Sd4" RELATED [OMIM:186200] synonym: "SDTY4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:186200] synonym: "syndactyly, type 4" RELATED [OMIM:186200] synonym: "syndactyly, type IV" RELATED [MONDO:Lexical, OMIM:186200] xref: DOID:0111818 {source="MONDO:equivalentTo"} xref: MESH:C566092 {source="MONDO:equivalentTo"} xref: OMIM:186200 {source="Orphanet:93405/e", source="MONDO:equivalentTo", source="Orphanet:93405"} xref: Orphanet:93405 {source="MONDO:equivalentTo", source="OMIM:186200"} xref: SCTID:719158007 {source="MONDO:equivalentTo"} xref: UMLS:C1861355 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:93405", source="OMIM:186200"} is_a: MONDO:0019530 {source="DC-OMIM:186200", source="MONDO:Redundant", source="Orphanet:93405"} ! non-syndromic syndactyly is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism property_value: exactMatch DOID:0111818 property_value: exactMatch http://identifiers.org/mesh/C566092 property_value: exactMatch http://identifiers.org/snomedct/719158007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861355 property_value: exactMatch https://omim.org/entry/186200 property_value: exactMatch Orphanet:93405 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4434/syndactyly-type-4 xsd:anyURI {source="GARD:0004434"} [Term] id: MONDO:0008516 name: syndactyly type 5 def: "Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits." [Orphanet:93406] subset: gard_rare {source="GARD:0005089"} subset: ordo_morphological_anomaly {source="Orphanet:93406"} synonym: "postaxial syndactyly with metacarpal synostosis" EXACT [Orphanet:93406] synonym: "SD5" EXACT ABBREVIATION [Orphanet:93406] synonym: "SDTY5" RELATED ABBREVIATION [OMIM:186300] synonym: "syndactyly with associated metacarpal and metatarsal fusion" RELATED [GARD:0005089] synonym: "syndactyly with metacarpal and metatarsal fusion" RELATED [OMIM:186300] synonym: "syndactyly, type 5" RELATED [OMIM:186300] synonym: "syndactyly, type V" RELATED [OMIM:186300] xref: DOID:0111819 {source="MONDO:equivalentTo"} xref: MESH:C538155 {source="Orphanet:93406/e", source="MONDO:equivalentTo", source="Orphanet:93406"} xref: OMIM:186300 {source="Orphanet:93406/e", source="MONDO:equivalentTo", source="Orphanet:93406"} xref: Orphanet:93406 {source="MONDO:equivalentTo", source="OMIM:186300"} xref: SCTID:719159004 {source="MONDO:equivalentTo"} is_a: MONDO:0019530 {source="DC-OMIM:186300", source="Orphanet:93406"} ! non-syndromic syndactyly is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism property_value: exactMatch DOID:0111819 property_value: exactMatch http://identifiers.org/mesh/C538155 property_value: exactMatch http://identifiers.org/snomedct/719159004 property_value: exactMatch https://omim.org/entry/186300 property_value: exactMatch Orphanet:93406 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5089/syndactyly-type-5 xsd:anyURI {source="GARD:0005089"} [Term] id: MONDO:0008517 name: syndactyly-polydactyly-ear lobe syndrome subset: ordo_malformation_syndrome {source="Orphanet:3259"} synonym: "hallux syndactyly ulnar polydactyly abnormal ear lobes" RELATED [GARD:0005090] synonym: "Spel syndrome" RELATED [OMIM:186350] synonym: "syndactyly-polydactyly-earlobe syndrome" RELATED [OMIM:186350] xref: MESH:C566091 {source="MONDO:equivalentTo"} xref: OMIM:186350 {source="Orphanet:3259", source="MONDO:equivalentTo", source="Orphanet:3259/e"} xref: Orphanet:3259 {source="MONDO:equivalentTo", source="OMIM:186350"} xref: UMLS:C1861347 {source="Orphanet:3259", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:186350"} is_a: MONDO:0002254 {source="Orphanet:3259"} ! syndromic disease property_value: exactMatch http://identifiers.org/mesh/C566091 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861347 property_value: exactMatch https://omim.org/entry/186350 property_value: exactMatch Orphanet:3259 [Term] id: MONDO:0008520 name: brachydactyly-elbow wrist dysplasia syndrome def: "Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported." [Orphanet:1275] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1275"} synonym: "brachydactyly elbow wrist dysplasia" RELATED [GARD:0000966] synonym: "brachydactyly with Joint dysplasia" RELATED [OMIM:186550] synonym: "brachydactyly with joint dysplasia" RELATED [GARD:0000966] synonym: "brachydactyly-joint dysplasia syndrome" EXACT [Orphanet:1275] synonym: "carpal synostosis with dysplastic elbow joints and brachydactyly" RELATED [GARD:0000966] synonym: "LBNBG" RELATED ABBREVIATION [MONDO:Lexical, OMIM:186550] synonym: "LIEBENBERG syndrome" RELATED [OMIM:186550] synonym: "Liebenberg syndrome" EXACT [GARD:0000966, MONDO:Lexical, OMIM:186550, Orphanet:1275] synonym: "synostosis, carpal, with dysplastic elbow joints and brachydactyly" RELATED [OMIM:186550] xref: MESH:C566090 {source="MONDO:equivalentTo"} xref: OMIM:186550 {source="Orphanet:1275", source="MONDO:equivalentTo", source="Orphanet:1275/e", source="GARD:0000966"} xref: Orphanet:1275 {source="MONDO:equivalentTo", source="OMIM:186550", source="GARD:0000966"} xref: SCTID:764437006 {source="MONDO:equivalentTo"} xref: UMLS:C1861313 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:186550"} is_a: EFO:0005541 {source="Orphanet:1275", source="https://orcid.org/0000-0001-5208-3432"} ! bone development disease is_a: MONDO:0800095 {source="PMID:31633310"} ! syndrome with synostosis or other joint formation defect property_value: exactMatch http://identifiers.org/mesh/C566090 property_value: exactMatch http://identifiers.org/snomedct/764437006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861313 property_value: exactMatch https://omim.org/entry/186550 property_value: exactMatch Orphanet:1275 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/966/brachydactyly-elbow-wrist-dysplasia xsd:anyURI {source="GARD:0000966"} [Term] id: MONDO:0008521 name: tarsal-carpal coalition syndrome def: "Tarsal-carpal coalition syndrome is characterized by fusion of the carpals, tarsals, and phalanges." [Orphanet:1412] subset: gard_rare {source="GARD:0009225"} subset: ordo_malformation_syndrome {source="Orphanet:1412"} synonym: "synostosis of talus and calcaneus with short stature" RELATED [OMIM:186570] synonym: "tarsal carpal coalition syndrome" RELATED [GARD:0009225] synonym: "tarsal-carpal coalition syndrome" EXACT [MONDO:Lexical, OMIM:186570] synonym: "TCC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:186570] xref: DOID:0050789 {source="MONDO:equivalentTo"} xref: EFO:0008965 {source="MONDO:equivalentTo"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:186570 {source="MONDO:equivalentTo", source="Orphanet:1412", source="DOID:0050789", source="Orphanet:1412/e"} xref: Orphanet:1412 {source="MONDO:equivalentTo", source="OMIM:186570"} xref: SCTID:702312009 {source="MONDO:equivalentTo"} xref: UMLS:C1861305 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:186570", source="Orphanet:1412", source="Orphanet:1412/e"} is_a: MONDO:0019054 ! congenital limb malformation is_a: MONDO:0100521 {source="PMID:21538686", source="https://orcid.org/0009-0009-9147-3105"} ! NOG-related symphalangism spectrum disorder property_value: exactMatch DOID:0050789 property_value: exactMatch http://identifiers.org/snomedct/702312009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861305 property_value: exactMatch https://omim.org/entry/186570 property_value: exactMatch Orphanet:1412 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6338 xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9225/tarsal-carpal-coalition-syndrome xsd:anyURI {source="GARD:0009225"} [Term] id: MONDO:0008523 name: Blau syndrome def: "Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease." [Orphanet:90340] subset: gard_rare {source="GARD:0000304"} subset: ordo_disease {source="Orphanet:90340"} synonym: "ACUG" RELATED ABBREVIATION [GARD:0000304] synonym: "arthrocutaneouveal granulomatosis" EXACT [DOID:0050678, OMIM:186580] synonym: "Blau syndrome" EXACT [MONDO:Lexical, OMIM:186580] synonym: "BLAUS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:186580] synonym: "early-onset sarcoidosis" EXACT [Orphanet:90341] synonym: "EOS" EXACT ABBREVIATION [OMIM:609464] synonym: "granulomatosis, familial juvenile systemic" EXACT [OMIM:186580] synonym: "granulomatosis, familial, Blau type" EXACT [OMIM:186580] synonym: "granulomatous inflammatory arthritis, dermatitis, and uveitis, familial" EXACT [OMIM:186580] synonym: "Jabs syndrome" EXACT [DOID:0050678, OMIM:186580] synonym: "paediatric granulomatous arthritis" EXACT OMO:0003005 [] synonym: "pediatric granulomatous arthritis" EXACT DEPRECATED [NCIT:C116794] synonym: "sarcoidosis, early-onset" EXACT [OMIM:609464] synonym: "synovitis granulomatous with uveitis and cranial neuropathies" RELATED [GARD:0000304] synonym: "synovitis, granulomatous, with uveitis and cranial neuropathies" RELATED [OMIM:186580] xref: DOID:0050678 {source="MONDO:equivalentTo"} xref: ICD9:692.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:714.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10071755 {source="Orphanet:90340", source="Orphanet:90340/e"} xref: MESH:C538157 {source="MONDO:equivalentTo"} xref: NCIT:C116794 {source="DOID:0050678", source="MONDO:equivalentTo"} xref: OMIM:186580 {source="Orphanet:90340", source="DOID:0050678", source="MONDO:equivalentTo", source="Orphanet:90340/e"} xref: OMIM:609464 {source="MONDO:equivalentObsolete"} xref: Orphanet:90340 {source="OMIM:186580", source="MONDO:equivalentTo"} xref: Orphanet:90341 {source="MONDO:equivalentObsolete", source="OMIM:609464"} xref: SCTID:699861000 {source="DOID:0050678", source="MONDO:equivalentTo"} xref: UMLS:C1836122 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609464"} xref: UMLS:C1861303 {source="OMIM:186580", source="NCIT:C116794", source="Orphanet:90340", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0005809 {source="NCIT:C116794"} ! type II hypersensitivity reaction disease is_a: MONDO:0015135 ! primary immunodeficiency due to a genetic defect in innate immunity is_a: MONDO:0019338 {source="DC-OMIM:609464"} ! sarcoidosis is_a: MONDO:0023603 ! hereditary disorder of connective tissue property_value: closeMatch http://identifiers.org/meddra/10071755 property_value: exactMatch DOID:0050678 property_value: exactMatch http://identifiers.org/mesh/C538157 property_value: exactMatch http://identifiers.org/snomedct/699861000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836122 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861303 property_value: exactMatch https://omim.org/entry/186580 property_value: exactMatch NCIT:C116794 property_value: exactMatch Orphanet:90340 property_value: excluded_subClassOf MONDO:0000426 {source="DOID:0050678"} property_value: excluded_subClassOf MONDO:0007179 {source="MONDO:Redundant", source="NCIT:C116794"} property_value: excluded_subClassOf MONDO:0018798 {source="Orphanet:90340"} property_value: excluded_subClassOf MONDO:0019295 {source="Orphanet:90340"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/304/blau-syndrome xsd:anyURI {source="GARD:0000304"} [Term] id: MONDO:0008535 name: telangiectasia, hereditary hemorrhagic, type 1 synonym: "ENG-related Hereditary hemorrhagic telangiectasia" RELATED [GTR:AN0195329] synonym: "hereditary hemorrhagic telangiectasia type 1" EXACT [GTR:AN0097748] synonym: "HHT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:187300] synonym: "HHT1" EXACT ABBREVIATION [GTR:AN0097750, OMIM:187300] synonym: "ORW disease" RELATED [OMIM:187300] synonym: "Osler Weber Rendu syndrome type 1" RELATED [GTR:AN0097757] synonym: "Osler-Rendu-Weber disease" RELATED [OMIM:187300] synonym: "telangiectasia, hereditary hemorrhagic, of RENDU, Osler, and WEBER" RELATED [OMIM:187300] synonym: "telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber" EXACT [MONDO:Lexical, OMIM:187300] synonym: "telangiectasia, hereditary hemorrhagic, type 1" EXACT [OMIM:187300] xref: GTR:AN0097748 xref: GTR:AN0097750 xref: GTR:AN0097757 xref: GTR:AN0195329 xref: OMIM:187300 {source="MONDO:equivalentTo"} xref: UMLS:CN034812 {source="MONDO:equivalentTo"} is_a: MONDO:0019180 {source="DC-OMIM:187300", source="OMIM:187300"} ! hereditary hemorrhagic telangiectasia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN034812 property_value: exactMatch https://omim.org/entry/187300 [Term] id: MONDO:0008537 name: telecanthus subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98575"} synonym: "telecanthus" EXACT [OMIM:187350] xref: MESH:C562941 {source="MONDO:equivalentTo"} xref: OMIM:187350 {source="MONDO:equivalentTo"} xref: Orphanet:98575 {source="MONDO:equivalentTo"} is_a: MONDO:0020163 {source="Orphanet:98575"} ! canthal anomaly property_value: exactMatch http://identifiers.org/mesh/C562941 property_value: exactMatch https://omim.org/entry/187350 property_value: exactMatch Orphanet:98575 [Term] id: MONDO:0008540 name: extensor tendons of finger anomalies subset: ordo_malformation_syndrome {source="Orphanet:3294"} synonym: "anomalous insertion of extensor tendons of fingers" RELATED [GARD:0002597] synonym: "Hapnes Boman Skeie syndrome" RELATED [GARD:0002597] synonym: "Hapnes-Boman-Skeie syndrome" EXACT [Orphanet:3294] synonym: "tendons, extensor, of fingers, anomalous insertion OF" RELATED [OMIM:187390] xref: MESH:C566068 {source="MONDO:equivalentTo"} xref: OMIM:187390 {source="Orphanet:3294/e", source="MONDO:equivalentTo", source="Orphanet:3294"} xref: Orphanet:3294 {source="OMIM:187390", source="MONDO:equivalentTo"} xref: UMLS:C2931376 {source="MONDO:equivalentTo", source="Orphanet:3294"} is_a: MONDO:0019054 {source="MONDO:0015226-obsoleted"} ! congenital limb malformation relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C566068 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931376 property_value: exactMatch https://omim.org/entry/187390 property_value: exactMatch Orphanet:3294 [Term] id: MONDO:0008544 name: tetramelic monodactyly def: "Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992." [Orphanet:2564] subset: gard_rare {source="GARD:0003707"} subset: ordo_malformation_syndrome {source="Orphanet:2564"} synonym: "Sommer Hines syndrome" RELATED [GARD:0003707] synonym: "Sommer-Hines syndrome" EXACT [Orphanet:2564] synonym: "tetramelic monodactyly" EXACT [OMIM:187510] synonym: "tetramelic monodactyly with autosomal dominant inheritance" RELATED [GARD:0003707] xref: MESH:C566066 {source="MONDO:equivalentTo"} xref: OMIM:187510 {source="Orphanet:2564", source="MONDO:equivalentTo", source="Orphanet:2564/e"} xref: Orphanet:2564 {source="MONDO:equivalentTo", source="OMIM:187510"} xref: UMLS:C1861233 {source="Orphanet:2564", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:187510"} is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation property_value: exactMatch http://identifiers.org/mesh/C566066 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861233 property_value: exactMatch https://omim.org/entry/187510 property_value: exactMatch Orphanet:2564 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3707/tetramelic-monodactyly xsd:anyURI {source="GARD:0003707"} [Term] id: MONDO:0008546 name: thanatophoric dysplasia type 1 def: "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." [Orphanet:1860] subset: ordo_clinical_subtype {source="Orphanet:1860"} synonym: "lethal short-limbed Platyspondylic dwarfism, San Diego type" RELATED [OMIM:187600] synonym: "Platyspondylic lethal skeletal dysplasia, San Diego type" RELATED [OMIM:187600] synonym: "PLSD San Diego type" RELATED [GARD:0004889] synonym: "TD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:187600, Orphanet:1860] synonym: "thanatophoric dwarfism" RELATED [OMIM:187600] synonym: "thanatophoric dwarfism 1" RELATED [GARD:0009295] synonym: "thanatophoric dwarfism type 1" EXACT [Orphanet:1860] synonym: "thanatophoric dysplasia" RELATED [OMIM:187600] synonym: "thanatophoric dysplasia type I" RELATED [GARD:0009295] synonym: "thanatophoric dysplasia, type 1" EXACT [NCIT:C98583] synonym: "thanatophoric dysplasia, type I" RELATED [MONDO:Lexical, OMIM:187600] synonym: "type 1 thanatophoric dysplasia" EXACT [NCIT:C98583] xref: NCIT:C98583 {source="MONDO:equivalentTo"} xref: OMIM:187600 {source="Orphanet:1860", source="MONDO:equivalentTo", source="Orphanet:1860/e"} xref: OMIM:270230 {source="MONDO:equivalentObsolete", source="GARD:0004889"} xref: Orphanet:1860 {source="MONDO:equivalentTo", source="OMIM:187600"} xref: UMLS:C1300256 {source="MONDO:equivalentTo", source="NCIT:C98583"} xref: UMLS:C1868678 {source="Orphanet:1860", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:187600"} is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0017042 {source="DC-OMIM:187600", source="NCIT:C98583", source="Orphanet:1860"} ! thanatophoric dysplasia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1300256 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868678 property_value: exactMatch https://omim.org/entry/187600 property_value: exactMatch NCIT:C98583 property_value: exactMatch Orphanet:1860 property_value: excluded_subClassOf MONDO:0014658 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0008547 name: thanatophoric dysplasia type 2 def: "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." [] subset: gard_rare {source="GARD:0001402"} subset: ordo_clinical_subtype {source="Orphanet:93274"} synonym: "cloverleaf skull with thanatophoric dwarfism" RELATED [OMIM:187601] synonym: "cloverleaf skull-micromelic bone dysplasia syndrome" EXACT [Orphanet:93274] synonym: "TD2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:187601, Orphanet:93274] synonym: "thanatophoric dwarfism - cloverleaf skull" RELATED [GARD:0001402] synonym: "thanatophoric dwarfism type 2" EXACT [Orphanet:93274] synonym: "thanatophoric dwarfism-cloverleaf skull syndrome" EXACT [Orphanet:93274] synonym: "thanatophoric dysplasia type II" RELATED [GARD:0001402] synonym: "thanatophoric dysplasia with Kleeblattschaedel" RELATED [OMIM:187601] synonym: "thanatophoric dysplasia with straight femurs and cloverleaf skull" RELATED [OMIM:187601] synonym: "thanatophoric dysplasia, type 2" EXACT [NCIT:C98584] synonym: "thanatophoric dysplasia, type II" RELATED [MONDO:Lexical, OMIM:187601] synonym: "type 2 thanatophoric dysplasia" EXACT [NCIT:C98584] xref: ICD9:742.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536508 {source="MONDO:equivalentTo"} xref: NCIT:C98584 {source="MONDO:equivalentTo"} xref: OMIM:187601 {source="Orphanet:93274", source="MONDO:equivalentTo", source="Orphanet:93274/e"} xref: Orphanet:93274 {source="MONDO:equivalentTo", source="OMIM:187601"} xref: SCTID:389158007 {source="MONDO:equivalentTo"} xref: UMLS:C1300257 {source="Orphanet:93274", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C98584", source="OMIM:187601"} xref: UMLS:CN206542 {source="MONDO:equivalentTo"} is_a: MONDO:0017042 {source="DC-OMIM:187601", source="MESH:C536508", source="NCIT:C98584", source="Orphanet:93274"} ! thanatophoric dysplasia property_value: exactMatch http://identifiers.org/mesh/C536508 property_value: exactMatch http://identifiers.org/snomedct/389158007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1300257 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206542 property_value: exactMatch https://omim.org/entry/187601 property_value: exactMatch NCIT:C98584 property_value: exactMatch Orphanet:93274 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1402/thanatophoric-dysplasia-type-2 xsd:anyURI {source="GARD:0001402"} [Term] id: MONDO:0008551 name: thoracolaryngopelvic dysplasia def: "A short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis." [Orphanet:3317] subset: ordo_malformation_syndrome {source="Orphanet:3317"} synonym: "autosomal dominant thoracolaryngopelvic dysplasia" RELATED [GARD:0005184] synonym: "Barnes syndrome" EXACT [OMIM:187760, Orphanet:3317] synonym: "thoracolaryngopelvic dysplasia" EXACT [MONDO:Lexical, OMIM:187760] synonym: "thoracopelvic dysostosis" EXACT [OMIM:187770] synonym: "TLPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:187760] xref: MESH:C536517 {source="MONDO:equivalentTo", source="Orphanet:3317", source="Orphanet:3317/e"} xref: OMIM:187760 {source="MONDO:equivalentTo", source="Orphanet:3317", source="Orphanet:3317/btnt"} xref: OMIM:187770 {source="MONDO:equivalentTo", source="Orphanet:3317", source="Orphanet:3317/e"} xref: Orphanet:3317 {source="MONDO:equivalentTo", source="OMIM:187770", source="OMIM:187760"} xref: SCTID:723556008 {source="MONDO:equivalentTo"} xref: UMLS:C1861197 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:187760", source="Orphanet:3317", source="Orphanet:3317/e"} is_a: MONDO:0015929 {source="Orphanet:3317"} ! thoracic malformation is_a: MONDO:0015930 {source="Orphanet:3317"} ! respiratory malformation is_a: MONDO:0019691 {source="Orphanet:3317", source="PMID:31633310"} ! short rib dysplasia property_value: exactMatch http://identifiers.org/mesh/C536517 property_value: exactMatch http://identifiers.org/snomedct/723556008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861197 property_value: exactMatch https://omim.org/entry/187760 property_value: exactMatch https://omim.org/entry/187770 property_value: exactMatch Orphanet:3317 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0008553 name: platelet-type bleeding disorder 17 def: "An autosomal dominant condition caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a tendency for increased bleeding due to abnormal platelet function." [NCIT:C142084] synonym: "BDPLT17" EXACT ABBREVIATION [DOID:0111049, MONDO:Lexical, OMIM:187900] synonym: "bleeding disorder, platelet-type 17" EXACT [NCIT:C142084] synonym: "bleeding disorder, platelet-type, 17" RELATED [MONDO:Lexical, OMIM:187900] synonym: "GFI1B inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary thrombasthenia-thrombocytopenia" EXACT [DOID:0111049] synonym: "inherited bleeding disorder, platelet-type caused by mutation in GFI1B" EXACT [MONDO:design_pattern] synonym: "platelet-type bleeding disorder 17" EXACT [] synonym: "thrombasthenia-thrombocytopenia, hereditary" RELATED [OMIM:187900] xref: DOID:0111049 {source="MONDO:equivalentTo"} xref: MESH:C566060 {source="MONDO:equivalentTo"} xref: NCIT:C142084 {source="MONDO:equivalentTo"} xref: OMIM:187900 {source="MONDO:equivalentTo", source="DOID:0111049"} is_a: MONDO:0000009 {source="MONDO:Redundant", source="OMIM:187900"} ! inherited bleeding disorder, platelet-type property_value: exactMatch DOID:0111049 property_value: exactMatch http://identifiers.org/mesh/C566060 property_value: exactMatch https://omim.org/entry/187900 property_value: exactMatch NCIT:C142084 [Term] id: MONDO:0008557 name: Paris-Trousseau thrombocytopenia def: "Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis." [Orphanet:851] subset: gard_rare {source="GARD:0004224"} subset: ordo_disease {source="Orphanet:851"} synonym: "chromosome 11q23 deletion syndrome" RELATED [OMIM:188025] synonym: "Paris-Trousseau syndrome" RELATED [GARD:0004224] synonym: "TCPT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:188025] synonym: "thrombocytopenia Paris-Trousseau type" RELATED [GARD:0004224] synonym: "thrombocytopenia, Paris-TROUSSEAU type" RELATED [MONDO:Lexical, OMIM:188025] synonym: "thrombocytopenia, Paris-Trousseau type, Isolated cases" EXACT [OMIM:188025, OMIM:genemap2] xref: OMIM:188025 {source="Orphanet:851", source="MONDO:equivalentTo", source="Orphanet:851/e"} xref: Orphanet:851 {source="MONDO:equivalentTo", source="OMIM:188025"} xref: UMLS:C1861178 {source="Orphanet:851", source="MONDO:equivalentObsolete", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:851/e", source="OMIM:188025"} xref: UMLS:C1956093 {source="Orphanet:851", source="MONDO:equivalentTo", source="Orphanet:851/e"} is_a: MONDO:0016910 {source="Orphanet:851"} ! partial deletion of the long arm of chromosome 11 is_a: MONDO:0020117 {source="Orphanet:851"} ! alpha granule disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1956093 property_value: exactMatch https://omim.org/entry/188025 property_value: exactMatch Orphanet:851 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4224/paris-trousseau-thrombocytopenia xsd:anyURI {source="GARD:0004224"} [Term] id: MONDO:0008559 name: thrombophilia due to thrombin defect def: "The formation of a blood clot (thrombus) in the lumen of a vein." [NCIT:C99107] synonym: "factor II-related thrombophilia" RELATED [GARD:0010815] synonym: "hyperprothrombinemia" RELATED [GARD:0010815] synonym: "prothrombin 20210G>A thrombophilia" RELATED [GARD:0010815] synonym: "prothrombin G20210A thrombophilia" RELATED [GARD:0010815] synonym: "prothrombin thrombophilia" EXACT [GARD:0010815] synonym: "prothrombin-related thrombophilia" EXACT [GARD:0010815] synonym: "THPH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:188050] synonym: "thromboembolism, susceptibility to" RELATED [OMIM:188050, OMIM:genemap2] synonym: "thrombophilia 1 due to thrombin defect" EXACT [OMIM:188050, OMIM:genemap2] synonym: "thrombophilia due to factor 2 defect" RELATED [OMIM:188050] synonym: "thrombophilia due to thrombin defect" EXACT [MONDO:Lexical, OMIM:188050] synonym: "thrombosis, protection against" RELATED [OMIM:188050] synonym: "Venous thromboembolism" BROAD [OMIM:188050] synonym: "venous thromboembolism, susceptibility to" EXACT [OMIM:188050, OMIM:genemap2] synonym: "venous thrombosis" RELATED [OMIM:188050] synonym: "venous thrombosis, protection against" EXACT [OMIM:188050, OMIM:genemap2] xref: DOID:0080701 {source="MONDO:equivalentTo"} xref: DOID:0111907 {source="MONDO:equivalentTo"} xref: ICD9:453.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:188050 {source="MONDO:equivalentTo"} xref: SCTID:111293003 {source="MONDO:equivalentTo"} is_a: MONDO:0100240 {source="DC-OMIM:188050", source="OMIM:188050"} ! inherited thrombophilia property_value: exactMatch DOID:0080701 property_value: exactMatch DOID:0111907 property_value: exactMatch http://identifiers.org/snomedct/111293003 property_value: exactMatch https://omim.org/entry/188050 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008560 name: thrombophilia due to activated protein C resistance def: "A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance." [MESH:D020016] synonym: "Activated Protein C resistance" RELATED [OMIM:188055] synonym: "APC resistance" RELATED [MESH:D020016, OMIM:188055] synonym: "Pccf deficiency" RELATED [OMIM:188055] synonym: "Proc cofactor deficiency" RELATED [OMIM:188055] synonym: "resistance, APC" RELATED [MESH:D020016] synonym: "THPH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:188055] synonym: "thrombophilia 2 due to activated protein C resistance" EXACT [OMIM:188055, OMIM:genemap2] synonym: "thrombophilia 5" RELATED [OMIM:188055] synonym: "thrombophilia due to ACTIVATED PROTEIN C resistance" RELATED [OMIM:188055] synonym: "thrombophilia due to activated protein C resistance" EXACT [MONDO:Lexical, OMIM:188055] synonym: "thrombophilia due to deficiency of Activated Protein C cofactor" RELATED [OMIM:188055] synonym: "thrombophilia due to Factor 5 Leiden" RELATED [OMIM:188055] synonym: "thrombophilia, susceptibility to, due to factor V Leiden" RELATED [OMIM:188055, OMIM:genemap2] xref: DOID:0111902 {source="MONDO:equivalentTo"} xref: ICD9:289.81 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D020016 {source="MONDO:equivalentTo"} xref: OMIM:188055 {source="MONDO:equivalentTo"} xref: SCTID:421527008 {source="MONDO:equivalentTo"} xref: UMLS:C1861171 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:188055"} is_a: MONDO:0002242 {source="MESH:D020016"} ! coagulation protein disease is_a: MONDO:0100240 {source="DC-OMIM:188055", source="MESH:D020016", source="OMIM:188055"} ! inherited thrombophilia property_value: exactMatch DOID:0111902 property_value: exactMatch http://identifiers.org/mesh/D020016 property_value: exactMatch http://identifiers.org/snomedct/421527008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861171 property_value: exactMatch https://omim.org/entry/188055 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008562 name: thumb deformity-alopecia-pigmentation anomaly syndrome def: "Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988." [Orphanet:2251] subset: ordo_malformation_syndrome {source="Orphanet:2251"} synonym: "congenital deformity of the thumb and congenital alopecia" RELATED [GARD:0005199] synonym: "hypotrichosis associated with congenital hypoplasia of the thumb" RELATED [GARD:0005199] synonym: "sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation" RELATED [GARD:0005199] synonym: "thumb deformity and alopecia" RELATED [OMIM:188150] synonym: "thumb deformity, alopecia, pigmentation anomaly" RELATED [GARD:0005199] xref: MESH:C566054 {source="MONDO:equivalentTo"} xref: OMIM:188150 {source="Orphanet:2251/e", source="MONDO:equivalentTo", source="Orphanet:2251"} xref: Orphanet:2251 {source="OMIM:188150", source="MONDO:equivalentTo"} xref: UMLS:C2931366 {source="Orphanet:2251/e", source="MONDO:equivalentTo", source="Orphanet:2251"} is_a: MONDO:0019054 {source="MONDO:0015226-obsoleted"} ! congenital limb malformation relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C566054 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931366 property_value: exactMatch https://omim.org/entry/188150 property_value: exactMatch Orphanet:2251 [Term] id: MONDO:0008563 name: thumb stiffness-brachydactyly-intellectual disability syndrome def: "Thumb stiffness-brachydactyly-intellectual disability syndrome is characterized by intellectual deficit, mild dysmorphism, type A brachydactylia, signs of obesity and ankylosis of both thumbs. It has been reported in several females from one family (a girl and her mother, her grandmother and probably also her sister and her great-aunt), as well as in an isolated case." [Orphanet:1078] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1078"} synonym: "Piussan-Lenaerts-Mathieu syndrome" EXACT [Orphanet:1078] synonym: "Thumb ankylosis with intellectual disability" RELATED [GARD:0004375] synonym: "Thumb ankylosis with mental retardation" RELATED DEPRECATED [GARD:0004375] synonym: "thumb stiff brachydactyly intellectual disability" RELATED [GARD:0005200] synonym: "thumb stiff brachydactyly mental retardation" RELATED DEPRECATED [GARD:0005200] synonym: "thumbs, STIFF, with brachydactyly type A1 and developmental delay" RELATED [OMIM:188201] xref: OMIM:188201 {source="Orphanet:1078", source="MONDO:equivalentTo", source="Orphanet:1078/e"} xref: Orphanet:1078 {source="MONDO:equivalentTo", source="OMIM:188201"} is_a: MONDO:0019054 {source="Orphanet:1078", source="Orphanet:1078/inferred"} ! congenital limb malformation property_value: exactMatch https://omim.org/entry/188201 property_value: exactMatch Orphanet:1078 [Term] id: MONDO:0008565 name: familial thyroglossal duct cyst def: "Familial thyroglossal duct cyst (TDC) is a very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck." [Orphanet:93953] subset: gard_rare {source="GARD:0005204"} subset: ordo_morphological_anomaly {source="Orphanet:93953"} synonym: "hereditary thyroglossal duct cyst" EXACT [MONDO:patterns/hereditary] synonym: "hereditary thyroglossal duct cysts" RELATED [GARD:0005204] synonym: "thyroglossal duct cyst, familial" RELATED [OMIM:188455] synonym: "thyroglossal duct cysts" RELATED [GARD:0005204] synonym: "thyroglossal duct cysts familial" RELATED [GARD:0005204] xref: MESH:C536909 {source="MONDO:equivalentTo"} xref: OMIM:188455 {source="MONDO:equivalentTo", source="Orphanet:93953", source="Orphanet:93953/e"} xref: Orphanet:93953 {source="MONDO:equivalentTo", source="OMIM:188455"} xref: SCTID:717331000 {source="MONDO:equivalentTo"} xref: UMLS:C3495590 {source="MONDO:equivalentTo", source="Orphanet:93953", source="OMIM:188455"} is_a: EFO:0003841 ! thyroid neoplasm is_a: EFO:0005950 ! head and neck neoplasia is_a: EFO:1000585 {source="MESH:C536909", source="MONDO:Redundant"} ! Thyroglossal Duct Cyst is_a: MONDO:0015476 {source="Orphanet:93953"} ! cysts and fistulae of the face and oral cavity is_a: MONDO:0018751 ! hereditary otorhinolaryngologic disease intersection_of: EFO:1000585 ! Thyroglossal Duct Cyst intersection_of: has_characteristic MONDO:0021152 ! inherited relationship: has_characteristic MONDO:0021140 ! congenital property_value: exactMatch http://identifiers.org/mesh/C536909 property_value: exactMatch http://identifiers.org/snomedct/717331000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3495590 property_value: exactMatch https://omim.org/entry/188455 property_value: exactMatch Orphanet:93953 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5204/familial-thyroglossal-duct-cyst xsd:anyURI {source="GARD:0005204"} [Term] id: MONDO:0008570 name: thyrotoxic periodic paralysis, susceptibility to, 1 def: "Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the CACNA1S gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition synonym: "CACNA1S thyrotoxic periodic paralysis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "thyrotoxic periodic paralysis caused by mutation in CACNA1S" EXACT [MONDO:design_pattern] synonym: "thyrotoxic periodic paralysis, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:188580] synonym: "thyrotoxic periodic paralysis, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:188580] synonym: "TTPP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:188580] xref: OMIM:188580 {source="MONDO:equivalentTo"} is_a: MONDO:0020573 {source="OMIM:188580", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility relationship: predisposes_towards MONDO:0019201 {source="OMIM:188580"} ! thyrotoxic periodic paralysis property_value: exactMatch https://omim.org/entry/188580 property_value: excluded_subClassOf MONDO:0019201 {source="OMIM:188580"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4882 xsd:anyURI [Term] id: MONDO:0008582 name: tooth and nail syndrome def: "Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia." [Orphanet:2228] subset: ordo_malformation_syndrome {source="Orphanet:2228"} synonym: "dysplasia of nails with hypodontia" RELATED [GARD:0005587] synonym: "ectodermal dysplasia 3, Tooth/nail type" RELATED [OMIM:189500] synonym: "ectodermal dysplasia 3, Witkop type" RELATED [OMIM:189500] synonym: "HND" EXACT ABBREVIATION [NCIT:C40553] synonym: "hypodontia - dysplasia of nails" RELATED [GARD:0005587] synonym: "hypodontia and nail dysplasia" EXACT [NCIT:C40553] synonym: "hypodontia with nail dysplasia" EXACT [NCIT:C40553] synonym: "hypodontia-dysplasia of nails syndrome" RELATED [Orphanet:2228] synonym: "hypodontia-nail dysgenesis syndrome" EXACT [Orphanet:2228] synonym: "hypodontia-nail dysplasia" EXACT [NCIT:C40553] synonym: "hypoplastic enamel-onycholysis-hypohidrosis syndrome" EXACT [DOID:6678, MTH:NOCODE] synonym: "nail dysplasia with hypodontia" RELATED [OMIM:189500] synonym: "TNS" RELATED ABBREVIATION [GARD:0005587] synonym: "tooth and nail syndrome" EXACT [DOID:6678, NCIT:C40553, Orphanet:2228] synonym: "tooth-and-nail syndrome" RELATED [OMIM:189500] synonym: "WITKOP syndrome" RELATED [OMIM:189500] synonym: "Witkop syndrome" EXACT [Orphanet:2228] synonym: "Witkop's syndrome" EXACT [DOID:6678] xref: DOID:6678 {source="MONDO:equivalentTo"} xref: MESH:C536736 {source="DOID:6678", source="MONDO:equivalentTo"} xref: NCIT:C40553 {source="DOID:6678", source="MONDO:equivalentTo"} xref: OMIM:189500 {source="DOID:6678", source="MONDO:equivalentTo", source="Orphanet:2228", source="Orphanet:2228/e"} xref: Orphanet:2228 {source="MONDO:equivalentTo", source="OMIM:189500"} xref: SCTID:400036004 {source="DOID:6678", source="MONDO:equivalentTo"} xref: UMLS:C0406735 {source="DOID:6678", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2228", source="OMIM:189500", source="NCIT:C40553"} is_a: MONDO:0019287 {source="OMIM:189500", source="Orphanet:2228"} ! ectodermal dysplasia syndrome property_value: exactMatch DOID:6678 property_value: exactMatch http://identifiers.org/mesh/C536736 property_value: exactMatch http://identifiers.org/snomedct/400036004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406735 property_value: exactMatch https://omim.org/entry/189500 property_value: exactMatch NCIT:C40553 property_value: exactMatch Orphanet:2228 [Term] id: MONDO:0008588 name: hereditary geniospasm def: "Hereditary geniospasm is a movement disorder characterized by episodes of involuntary tremor of the chin and lower lip." [Orphanet:53372] subset: gard_rare {source="GARD:0009501"} subset: ordo_disease {source="Orphanet:53372"} synonym: "familial trembling of the chin" EXACT [Orphanet:53372] synonym: "geniospasm" RELATED [GARD:0009501] synonym: "geniospasm 1" RELATED [MONDO:Lexical, OMIM:190100] synonym: "GSM 1" RELATED [GARD:0009501] synonym: "GSM1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:190100] synonym: "hereditary chin myoclonus" EXACT [Orphanet:53372] synonym: "hereditary chin tremor/myoclonus" RELATED [GARD:0009501] synonym: "hereditary chin-trembling" EXACT [Orphanet:53372] synonym: "trembling Chin" RELATED [OMIM:190100] xref: MESH:C537682 {source="Orphanet:53372/e", source="MONDO:equivalentTo", source="Orphanet:53372"} xref: OMIM:190100 {source="Orphanet:53372/e", source="MONDO:equivalentTo", source="Orphanet:53372"} xref: Orphanet:53372 {source="OMIM:190100", source="MONDO:equivalentTo"} xref: SCTID:718103001 {source="MONDO:equivalentTo"} xref: UMLS:C2931589 {source="Orphanet:53372/e", source="MONDO:equivalentTo", source="Orphanet:53372"} is_a: EFO:0004280 {source="Orphanet:53372"} ! movement disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0017644"} ! rare property_value: exactMatch http://identifiers.org/mesh/C537682 property_value: exactMatch http://identifiers.org/snomedct/718103001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931589 property_value: exactMatch https://omim.org/entry/190100 property_value: exactMatch Orphanet:53372 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9501/hereditary-geniospasm xsd:anyURI {source="GARD:0009501"} [Term] id: MONDO:0008592 name: tricho-dento-osseous syndrome def: "Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterized by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull." [Orphanet:3352] subset: gard_rare {source="GARD:0007799"} subset: ordo_malformation_syndrome {source="Orphanet:3352"} synonym: "enamel hypoplasia and hypocalcification with associated strikingly curly hair" RELATED [GARD:0007799] synonym: "kinky or curly hair, dolichocephaly, enamel hypoplasia, increased dental caries, radial dense bones, and brittle nails" RELATED [GARD:0005252] synonym: "TDO" RELATED ABBREVIATION [MONDO:Lexical, OMIM:190320] synonym: "TDO syndrome" EXACT [OMIM:190320, Orphanet:3352] synonym: "TDO syndrome 1" RELATED [GARD:0005252] synonym: "Tricho-dento-osseous syndrome 1" RELATED [GARD:0005252] synonym: "TRICHODENTOOSSEOUS syndrome" RELATED [MONDO:Lexical, OMIM:190320] synonym: "trichodontoosseous syndrome" EXACT [OMIM:190320, OMIM:genemap2] xref: DOID:0111565 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536549 {source="Orphanet:3352/e", source="MONDO:equivalentTo", source="Orphanet:3352"} xref: OMIM:190320 {source="Orphanet:3352/e", source="MONDO:equivalentTo", source="GARD:0005252", source="Orphanet:3352"} xref: Orphanet:3352 {source="OMIM:190320", source="MONDO:equivalentTo"} xref: SCTID:38993008 {source="MONDO:equivalentTo"} is_a: MONDO:0019287 {source="Orphanet:3352"} ! ectodermal dysplasia syndrome is_a: MONDO:0800084 {source="PMID:31633310"} ! primary bone dysplasia with increased bone density property_value: exactMatch DOID:0111565 property_value: exactMatch http://identifiers.org/mesh/C536549 property_value: exactMatch http://identifiers.org/snomedct/38993008 property_value: exactMatch https://omim.org/entry/190320 property_value: exactMatch Orphanet:3352 property_value: excluded_subClassOf MONDO:0019703 {source="Orphanet:3352"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7799/tricho-dento-osseous-syndrome xsd:anyURI {source="GARD:0007799"} [Term] id: MONDO:0008593 name: trichomegaly synonym: "eyelashes, long" RELATED [OMIM:190330] synonym: "TCMGLY" RELATED ABBREVIATION [MONDO:Lexical, OMIM:190330] synonym: "trichomegaly" EXACT [MONDO:Lexical, OMIM:190330] xref: OMIM:190330 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/entry/190330 [Term] id: MONDO:0008596 name: trichorhinophalangeal syndrome type I def: "An autosomal dominant malformation syndrome caused by mutations in TRPS1 characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature." [PMID:10615131] synonym: "Giedion syndrome" RELATED [GARD:0007800] synonym: "Sugio-Kajii syndrome" EXACT [DOID:14743] synonym: "trichorhinophalangeal dysplasia type I" RELATED [DOID:14743, MTH:NOCODE] synonym: "trichorhinophalangeal syndrome type 1" RELATED [GARD:0007800] synonym: "trichorhinophalangeal syndrome type I" EXACT [] synonym: "trichorhinophalangeal syndrome, type 1" RELATED [OMIM:190350] synonym: "trichorhinophalangeal syndrome, type I" RELATED [MONDO:Lexical, OMIM:190350] synonym: "TRPS 1" RELATED [OMIM:190350] synonym: "TRPS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:190350] synonym: "type I trichorhinophalangeal syndrome" EXACT [DOID:14743] synonym: "type III trichorhinophalangeal syndrome" EXACT [DOID:14743] xref: DOID:14743 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536820 {source="MONDO:equivalentTo", source="DOID:14743"} xref: NCIT:C75109 {source="MONDO:equivalentTo", source="DOID:14743"} xref: OMIM:190350 {source="MONDO:equivalentTo", source="DOID:14743"} xref: SCTID:254091006 {source="MONDO:equivalentTo", source="DOID:14743"} is_a: MONDO:0019176 {source="Orphanet:77258/btnt"} ! trichorhinophalangeal syndrome type I or III property_value: exactMatch DOID:14743 property_value: exactMatch http://identifiers.org/mesh/C536820 property_value: exactMatch http://identifiers.org/snomedct/254091006 property_value: exactMatch https://omim.org/entry/190350 property_value: exactMatch NCIT:C75109 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0008597 name: trichorhinophalangeal syndrome, type III def: "A trichorhinophalangeal syndrome caused by mutations in TRPS1 characterized by the presence of severe brachydactyly, due to short metacarpals, and severe short stature." [MONDO:cjm, PMID:4025405] synonym: "Sugio-Kajii syndrome" RELATED [OMIM:190351] synonym: "trichorhinophalangeal syndrome type 3" RELATED [GARD:0007802] synonym: "trichorhinophalangeal syndrome, type 3" RELATED [MONDO:Lexical] synonym: "trichorhinophalangeal syndrome, type III" EXACT [OMIM:190351] synonym: "TRPS 3" RELATED [GARD:0007802] synonym: "TRPS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:190351] xref: DOID:0080376 {source="MONDO:equivalentTo"} xref: MESH:C566033 {source="MONDO:equivalentTo"} xref: OMIM:190351 {source="MONDO:equivalentTo"} xref: UMLS:C1860823 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:190351"} is_a: MONDO:0019176 {source="Orphanet:77258/btnt"} ! trichorhinophalangeal syndrome type I or III property_value: exactMatch DOID:0080376 property_value: exactMatch http://identifiers.org/mesh/C566033 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860823 property_value: exactMatch https://omim.org/entry/190351 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0008598 name: trichodysplasia-xeroderma syndrome def: "Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987." [Orphanet:3361] subset: ordo_malformation_syndrome {source="Orphanet:3361"} synonym: "trichodysplasia xeroderma" RELATED [GARD:0005261] synonym: "trichodysplasia-xeroderma" RELATED [OMIM:190360] xref: MESH:C566032 {source="MONDO:equivalentTo"} xref: OMIM:190360 {source="Orphanet:3361/e", source="MONDO:equivalentTo", source="Orphanet:3361"} xref: Orphanet:3361 {source="MONDO:equivalentTo", source="OMIM:190360"} xref: UMLS:C1860822 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3361", source="OMIM:190360"} is_a: MONDO:0019278 {source="https://orcid.org/0000-0001-5208-3432"} ! hair anomaly property_value: exactMatch http://identifiers.org/mesh/C566032 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860822 property_value: exactMatch https://omim.org/entry/190360 property_value: exactMatch Orphanet:3361 [Term] id: MONDO:0008606 name: Say-field-Coldwell syndrome def: "Say-Field-Coldwell syndrome is characterized by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters." [Orphanet:3133] subset: gard_rare {source="GARD:0000242"} subset: ordo_malformation_syndrome {source="Orphanet:3133"} synonym: "polydactyly with triphalangeal thumbs, brachydactyly, camptodactyly, congenital dislocation of the patellas, short stature and borderline intelligence" RELATED [GARD:0000242] synonym: "triphalangeal thumbs and dislocation of patella" RELATED [OMIM:190650] synonym: "triphalangeal thumbs-dislocation of patella syndrome" EXACT [Orphanet:3133] xref: MESH:C536619 {source="Orphanet:3133", source="MONDO:equivalentTo", source="Orphanet:3133/e"} xref: OMIM:190650 {source="Orphanet:3133", source="MONDO:equivalentTo", source="Orphanet:3133/e"} xref: Orphanet:3133 {source="OMIM:190650", source="MONDO:equivalentObsolete"} xref: UMLS:C1860805 {source="OMIM:190650", source="Orphanet:3133", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3133/e"} is_a: MONDO:0019054 {source="Orphanet:3133"} ! congenital limb malformation property_value: exactMatch http://identifiers.org/mesh/C536619 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860805 property_value: exactMatch https://omim.org/entry/190650 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/242/say-field-coldwell-syndrome xsd:anyURI {source="GARD:0000242"} [Term] id: MONDO:0008607 name: triphalangeal thumbs-brachyectrodactyly syndrome def: "Triphalangeal thumbs-brachyectrodactyly syndrome is characterized by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant." [Orphanet:2947] subset: ordo_malformation_syndrome {source="Orphanet:2947"} synonym: "Carnevale-Hernández-del Castillo syndrome" EXACT [Orphanet:2947] synonym: "triphalangeal thumb and brachy-ectrodactyly syndrome" RELATED [GARD:0005290] synonym: "triphalangeal thumb and brachyectrodactyly syndrome" RELATED [GARD:0005290] synonym: "triphalangeal thumbs brachyectrodactyly" RELATED [GARD:0005290] synonym: "triphalangeal thumbs with brachyectrodactyly" RELATED [OMIM:190680] xref: MESH:C536564 {source="Orphanet:2947/e", source="MONDO:equivalentTo", source="Orphanet:2947"} xref: OMIM:190680 {source="Orphanet:2947/e", source="MONDO:equivalentTo", source="Orphanet:2947"} xref: Orphanet:2947 {source="MONDO:equivalentTo", source="OMIM:190680"} xref: UMLS:C1860804 {source="Orphanet:2947/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:190680", source="Orphanet:2947"} is_a: MONDO:0019054 {source="Orphanet:2947"} ! congenital limb malformation property_value: exactMatch http://identifiers.org/mesh/C536564 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860804 property_value: exactMatch https://omim.org/entry/190680 property_value: exactMatch Orphanet:2947 [Term] id: MONDO:0008610 name: blue color blindness def: "Tritanopia is an extremely rare form of color blindness characterized by a selective deficiency of blue vision." [Orphanet:88629] subset: ordo_disease {source="Orphanet:88629"} synonym: "blue color blindness" EXACT [Orphanet:88629] synonym: "blue colorblindness" RELATED [OMIM:190900] synonym: "colorblindness, tritan" RELATED [OMIM:190900] synonym: "colorblindness, tritanopic" RELATED [OMIM:190900] synonym: "congenital tritanopia" EXACT [Orphanet:88629] synonym: "tritan color blindness" EXACT [Orphanet:88629] synonym: "tritan colour blindness" EXACT OMO:0003005 [] synonym: "tritan defect" EXACT [DOID:11661, ICD9CM:368.53] synonym: "tritanopia" EXACT [DOID:11661, OMIM:190900] xref: DOID:11661 {source="MONDO:equivalentTo"} xref: ICD9:368.53 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11661"} xref: OMIM:190900 {source="MONDO:equivalentTo", source="Orphanet:88629", source="DOID:11661", source="Orphanet:88629/e"} xref: Orphanet:88629 {source="MONDO:equivalentTo", source="OMIM:190900"} xref: SCTID:51886007 {source="MONDO:equivalentTo", source="DOID:11661"} xref: UMLS:C0155017 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:88629", source="DOID:11661"} is_a: MONDO:0001703 {source="DOID:11661", source="Orphanet:88629"} ! color vision disorder property_value: exactMatch DOID:11661 property_value: exactMatch http://identifiers.org/snomedct/51886007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155017 property_value: exactMatch https://omim.org/entry/190900 property_value: exactMatch Orphanet:88629 [Term] id: MONDO:0008611 name: humerus trochlea aplasia def: "Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus." [Orphanet:3383] subset: gard_rare {source="GARD:0002750"} subset: ordo_malformation_syndrome {source="Orphanet:3383"} synonym: "aplasia of trochlea of the humerus" RELATED [GARD:0002750] synonym: "trochlea of the humerus aplasia of" RELATED [GARD:0002750] synonym: "trochlea of the HUMERUS, aplasia OF" RELATED [OMIM:191000] xref: MESH:C566022 {source="MONDO:equivalentTo"} xref: OMIM:191000 {source="Orphanet:3383/e", source="MONDO:equivalentTo", source="Orphanet:3383"} xref: Orphanet:3383 {source="MONDO:equivalentTo", source="OMIM:191000"} xref: SCTID:732928005 {source="MONDO:equivalentTo"} xref: UMLS:C1860773 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3383", source="OMIM:191000"} is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation property_value: exactMatch http://identifiers.org/mesh/C566022 property_value: exactMatch http://identifiers.org/snomedct/732928005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860773 property_value: exactMatch https://omim.org/entry/191000 property_value: exactMatch Orphanet:3383 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2750/trochlea-of-the-humerus-aplasia-of xsd:anyURI {source="GARD:0002750"} [Term] id: MONDO:0008618 name: mesomelic dwarfism, Reinhardt-Pfeiffer type def: "Mesomelic dwarfism, Reinhardt-Pfeiffer type is characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula." [Orphanet:2634] subset: ordo_malformation_syndrome {source="Orphanet:2634"} synonym: "hypoplasia of ulna and fibula" RELATED [GARD:0003555] synonym: "mesomelic dwarfism of hypoplastic ulna and fibula type" RELATED [OMIM:191400] synonym: "mesomelic dysplasia Reinhardt-Pfeiffer type" RELATED [GARD:0003555] synonym: "Reinhardt-Pfeiffer mesomelic dysplasia" EXACT [OMIM:191400, Orphanet:2634] synonym: "Reinhardt-Pfeiffer syndrome" EXACT [Orphanet:2634] synonym: "ulna and fibula, hypoplasia OF" RELATED [OMIM:191400] xref: MESH:C537349 {source="MONDO:equivalentTo", source="Orphanet:2634", source="Orphanet:2634/e"} xref: OMIM:191400 {source="MONDO:equivalentTo", source="Orphanet:2634", source="Orphanet:2634/e"} xref: Orphanet:2634 {source="OMIM:191400", source="MONDO:equivalentTo"} xref: SCTID:715472000 {source="MONDO:equivalentTo"} xref: UMLS:C1860616 {source="OMIM:191400", source="MONDO:equivalentTo", source="Orphanet:2634", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2634/e"} is_a: MONDO:0019697 {source="Orphanet:2634"} ! mesomelic and rhizo-mesomelic dysplasia property_value: exactMatch http://identifiers.org/mesh/C537349 property_value: exactMatch http://identifiers.org/snomedct/715472000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860616 property_value: exactMatch https://omim.org/entry/191400 property_value: exactMatch Orphanet:2634 [Term] id: MONDO:0008619 name: ulna metaphyseal dysplasia syndrome def: "Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga." [Orphanet:1837] subset: gard_rare {source="GARD:0004740"} subset: ordo_disease {source="Orphanet:1837"} synonym: "hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna" RELATED [GARD:0004740] synonym: "metaphyseal chondrodysplasia, Rosenberg type" RELATED [OMIM:191420] synonym: "metaphyseal chondroplasia Rosenberg type" RELATED [GARD:0004740] synonym: "Rosenberg Lohr syndrome" RELATED [GARD:0004740] synonym: "Rosenberg-Lohr syndrome" EXACT [Orphanet:1837] synonym: "ulna metaphyseal dysplasia syndrome" EXACT [OMIM:191420] xref: MESH:C536935 {source="Orphanet:1837/e", source="MONDO:equivalentTo", source="Orphanet:1837"} xref: OMIM:191420 {source="Orphanet:1837/e", source="MONDO:equivalentTo", source="Orphanet:1837"} xref: Orphanet:1837 {source="OMIM:191420", source="MONDO:equivalentTo"} xref: SCTID:715242008 {source="MONDO:equivalentTo"} xref: UMLS:C1860615 {source="OMIM:191420", source="Orphanet:1837/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1837"} is_a: MONDO:0019693 {source="Orphanet:1837"} ! multiple metaphyseal dysplasia property_value: exactMatch http://identifiers.org/mesh/C536935 property_value: exactMatch http://identifiers.org/snomedct/715242008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860615 property_value: exactMatch https://omim.org/entry/191420 property_value: exactMatch Orphanet:1837 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4740/ulna-metaphyseal-dysplasia-syndrome xsd:anyURI {source="GARD:0004740"} [Term] id: MONDO:0008620 name: upper limb mesomelic dysplasia def: "This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity." [Orphanet:2497] subset: ordo_malformation_syndrome {source="Orphanet:2497"} synonym: "Fryns Hofkens Fabry syndrome" RELATED [GARD:0002408] synonym: "Fryns-Hofkens-Fabry syndrome" EXACT [Orphanet:2497] synonym: "ulna hypoplasia" RELATED [Orphanet:2497] synonym: "ulnar hypoplasia" RELATED [OMIM:191440] synonym: "upper limb mesomelic dysplasia" EXACT [OMIM:191440] xref: MESH:C538069 {source="MONDO:equivalentTo"} xref: OMIM:191440 {source="Orphanet:2497", source="MONDO:equivalentTo", source="Orphanet:2497/e"} xref: Orphanet:2497 {source="MONDO:equivalentTo", source="OMIM:191440"} is_a: MONDO:0019697 {source="Orphanet:2497"} ! mesomelic and rhizo-mesomelic dysplasia property_value: exactMatch http://identifiers.org/mesh/C538069 property_value: exactMatch https://omim.org/entry/191440 property_value: exactMatch Orphanet:2497 [Term] id: MONDO:0008621 name: uncombable hair syndrome def: "Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia." [Orphanet:1410] subset: gard_rare {source="GARD:0005404"} subset: ordo_disease {source="Orphanet:1410"} synonym: "cheveux incoiffables" RELATED [GARD:0005404] synonym: "pili trianguli et canaliculi" EXACT [OMIM:191480, Orphanet:1410] synonym: "spun glass hair" RELATED [GARD:0005404] synonym: "uncombable hair syndrome" EXACT [OMIM:191480] synonym: "unmanageable hair syndrome" RELATED [GARD:0005404] xref: MESH:C536939 {source="Orphanet:1410", source="MONDO:equivalentTo", source="Orphanet:1410/e"} xref: Orphanet:1410 {source="MONDO:equivalentTo", source="OMIM:191480"} xref: SCTID:254230001 {source="MONDO:equivalentTo"} xref: UMLS:C0432347 {source="Orphanet:1410", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:191480", source="Orphanet:1410/e"} is_a: MONDO:0019281 {source="Orphanet:1410"} ! isolated genetic hair shaft abnormality property_value: exactMatch http://identifiers.org/mesh/C536939 property_value: exactMatch http://identifiers.org/snomedct/254230001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432347 property_value: exactMatch Orphanet:1410 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5404/uncombable-hair-syndrome xsd:anyURI {source="GARD:0005404"} [Term] id: MONDO:0008622 name: tricho-retino-dento-digital syndrome def: "Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients." [Orphanet:1264] subset: ordo_malformation_syndrome {source="Orphanet:1264"} synonym: "Bork Stender Schmidt syndrome" RELATED [GARD:0000938] synonym: "Bork syndrome" EXACT [OMIM:191482, Orphanet:1264] synonym: "uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly" RELATED [OMIM:191482] synonym: "uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome" EXACT [Orphanet:1264] xref: MESH:C536576 {source="MONDO:equivalentTo"} xref: OMIM:191482 {source="Orphanet:1264", source="MONDO:equivalentTo", source="Orphanet:1264/e"} xref: Orphanet:1264 {source="MONDO:equivalentTo", source="OMIM:191482"} xref: SCTID:719910004 {source="MONDO:equivalentTo"} xref: UMLS:C1860605 {source="Orphanet:1264", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:191482"} is_a: MONDO:0019287 {source="Orphanet:1264"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C536576 property_value: exactMatch http://identifiers.org/snomedct/719910004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860605 property_value: exactMatch https://omim.org/entry/191482 property_value: exactMatch Orphanet:1264 [Term] id: MONDO:0008624 name: Upington disease def: "Upington disease is characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant." [Orphanet:3408] subset: gard_rare {source="GARD:0005421"} subset: ordo_malformation_syndrome {source="Orphanet:3408"} synonym: "familial dyschondroplasia" RELATED [GARD:0005421] synonym: "hip dysplasia-enchondromata-ecchondroma syndrome" EXACT [Orphanet:3408] synonym: "Perthes-like hip disease, enchondromata, and Ecchondromata" RELATED [OMIM:191520] synonym: "Upington disease" EXACT [OMIM:191520] xref: MESH:C536472 {source="Orphanet:3408/e", source="MONDO:equivalentTo", source="Orphanet:3408"} xref: OMIM:191520 {source="Orphanet:3408/e", source="MONDO:equivalentTo", source="Orphanet:3408"} xref: Orphanet:3408 {source="OMIM:191520", source="MONDO:equivalentTo"} xref: SCTID:719041000 {source="MONDO:equivalentTo"} xref: UMLS:C1860596 {source="OMIM:191520", source="Orphanet:3408/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3408"} is_a: EFO:0000508 {source="OMIM:191520"} ! genetic disorder is_a: EFO:0009676 {source="GARD:0005421"} ! musculoskeletal system disease property_value: exactMatch http://identifiers.org/mesh/C536472 property_value: exactMatch http://identifiers.org/snomedct/719041000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860596 property_value: exactMatch https://omim.org/entry/191520 property_value: exactMatch Orphanet:3408 property_value: excluded_subClassOf MONDO:0019708 {source="Orphanet:3408"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5421/upington-disease xsd:anyURI {source="GARD:0005421"} [Term] id: MONDO:0008627 name: ureter cancer def: "A malignant neoplasm involving the ureter" [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of ureter" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the ureter" EXACT [NCIT:C7543] synonym: "malignant neoplasm of ureter" EXACT [MONDO:patterns/cancer, NCIT:C7543] synonym: "malignant tumor of the ureter" EXACT [NCIT:C7543] synonym: "malignant tumor of ureter" EXACT [DOID:11819, NCIT:C7543] synonym: "malignant tumour of the ureter" EXACT OMO:0003005 [] synonym: "malignant tumour of ureter" EXACT OMO:0003005 [] synonym: "malignant ureter neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7543] synonym: "malignant ureter tumor" EXACT [NCIT:C7543] synonym: "malignant ureter tumour" EXACT OMO:0003005 [] synonym: "malignant ureteral neoplasm" EXACT [NCIT:C7543] synonym: "malignant ureteral tumor" EXACT [DOID:11819, NCIT:C7543] synonym: "malignant ureteral tumour" EXACT OMO:0003005 [] synonym: "ureter cancer" EXACT [MONDO:patterns/location] synonym: "ureter, cancer OF" RELATED [OMIM:191600] xref: DOID:11819 {source="MONDO:equivalentTo"} xref: ICD10CM:C66 {source="MONDO:equivalentTo", source="DOID:11819"} xref: ICD9:189.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11819"} xref: MESH:D014516 {source="MONDO:equivalentTo", source="DOID:11819"} xref: NCIT:C7543 {source="MONDO:equivalentTo", source="DOID:11819"} xref: OMIM:191600 {source="MONDO:equivalentTo", source="DOID:11819"} xref: SCTID:363458004 {source="MONDO:equivalentTo", source="DOID:11819"} xref: UMLS:C0153619 {source="NCIT:C7543", source="OMIM:191600", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:11819"} is_a: EFO:0003844 {source="MONDO:Redundant", source="NCIT:C7543"} ! ureteral neoplasm is_a: EFO:1000363 {source="DOID:11819", source="ICD10CM:C66", source="MONDO:Redundant", source="NCIT:C7543"} ! Malignant Urinary System Neoplasm property_value: exactMatch DOID:11819 property_value: exactMatch http://identifiers.org/mesh/D014516 property_value: exactMatch http://identifiers.org/snomedct/363458004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153619 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/C66 property_value: exactMatch https://omim.org/entry/191600 property_value: exactMatch NCIT:C7543 [Term] id: MONDO:0008630 name: urinary bladder, atony of synonym: "atony of urinary bladder" EXACT [https://orcid.org/0000-0002-2825-0621] synonym: "bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT" EXACT [OMIM:191800, OMIM:genemap2] synonym: "urinary bladder, atony of" EXACT [OMIM:191800] xref: OMIM:191800 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/entry/191800 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008633 name: Muckle-Wells syndrome def: "An intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type)." [https://orcid.org/0000-0001-5208-3432, Orphanet:575] subset: ordo_disease {source="Orphanet:575"} synonym: "Cryopyrin-associated periodic syndrome 2" RELATED [OMIM:191900] synonym: "Muckle Wells syndrome" RELATED [GARD:0008472] synonym: "MUCKLE-Wells syndrome" RELATED [OMIM:191900] synonym: "Muckle-Wells syndrome" EXACT [MONDO:Lexical, OMIM:191900] synonym: "MWS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:191900] synonym: "neutrophilic urticaria" EXACT [Orphanet:575] synonym: "Uda syndrome" RELATED [OMIM:191900] synonym: "urticaria, deafness and amyloidosis" RELATED [GARD:0008472] synonym: "urticaria-deafness-amyloidosis syndrome" RELATED [OMIM:191900] xref: DOID:0050854 {source="MONDO:equivalentTo"} xref: ICD9:708.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10064569 {source="Orphanet:575/e", source="Orphanet:575"} xref: NCIT:C119054 {source="MONDO:equivalentTo"} xref: OMIM:191900 {source="Orphanet:575/e", source="MONDO:equivalentTo", source="Orphanet:575"} xref: Orphanet:575 {source="MONDO:equivalentTo", source="OMIM:191900"} xref: SCTID:402417009 {source="MONDO:equivalentTo"} xref: UMLS:C0268390 {source="Orphanet:575/e", source="MONDO:equivalentTo", source="OMIM:191900", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:575", source="NCIT:C119054"} xref: UMLS:C1304205 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 {source="DOID:0050854", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0016168 {source="OMIM:191900", source="Orphanet:575"} ! cryopyrin-associated periodic syndrome property_value: closeMatch http://identifiers.org/meddra/10064569 property_value: exactMatch DOID:0050854 property_value: exactMatch http://identifiers.org/snomedct/402417009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268390 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1304205 property_value: exactMatch https://omim.org/entry/191900 property_value: exactMatch NCIT:C119054 property_value: exactMatch Orphanet:575 property_value: excluded_subClassOf MONDO:0019724 {source="Orphanet:575"} [Term] id: MONDO:0008636 name: double uterus-hemivagina-renal agenesis syndrome def: "Double uterus, hemivagina and renal agenesis is a rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present." [Orphanet:3411] subset: ordo_malformation_syndrome {source="Orphanet:3411"} synonym: "Double uterus and obstructed hemivagina syndrome" EXACT [Orphanet:3411] synonym: "Herlyn-Werner syndrome" EXACT [Orphanet:3411] synonym: "obstructed hemivagina and ipsilateral renal anomaly" EXACT [Orphanet:3411] synonym: "OHVIRA syndrome" EXACT [Orphanet:3411] synonym: "uterus BICORNIS BICOLLIS with partial vaginal septum and unilateral HEMATOCOLPOS with ipsilateral renal agenesis" RELATED [OMIM:192050] synonym: "Wunderlich syndrome" EXACT [Orphanet:3411] xref: MESH:C566010 {source="MONDO:equivalentTo"} xref: OMIM:192050 {source="Orphanet:3411", source="MONDO:equivalentTo", source="Orphanet:3411/e"} xref: Orphanet:3411 {source="MONDO:equivalentTo", source="OMIM:192050"} xref: SCTID:722431007 {source="MONDO:equivalentTo"} is_a: MONDO:0015620 {source="Orphanet:3411"} ! syndromic urogenital tract malformation is_a: MONDO:0015846 {source="Orphanet:3411"} ! syndromic uterovaginal malformation property_value: exactMatch http://identifiers.org/mesh/C566010 property_value: exactMatch http://identifiers.org/snomedct/722431007 property_value: exactMatch https://omim.org/entry/192050 property_value: exactMatch Orphanet:3411 [Term] id: MONDO:0008638 name: varicose disease def: "A vascular disease characterized by the presence of enlarged and tortuous veins." [HP:0002619, Wikipedia:Varices] synonym: "varices" NARROW [DOID:799, Wikipedia:Varices] synonym: "varicose veins" NARROW [NCIT:C35114, OMIM:192200, Wikipedia:Varicose_veins] synonym: "varix" EXACT [DOID:799, Wikipedia:Varices] synonym: "Venous ectasia" EXACT [DOID:799] synonym: "Venous varices" EXACT [DOID:799] xref: DOID:799 {source="MONDO:equivalentTo"} xref: ICD9:454.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:456.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D014648 {source="DOID:799", source="MONDO:equivalentTo"} xref: NCIT:C35114 {source="DOID:799", source="MONDO:equivalentTo", source="MONDO:otherHierarchy"} xref: OMIM:192200 {source="DOID:799", source="MONDO:equivalentTo"} xref: SCTID:128060009 {source="DOID:799", source="MONDO:equivalentTo"} xref: UMLS:C0042345 {source="DOID:799", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:192200"} is_a: MONDO:0004634 {source="DOID:799"} ! vein disorder property_value: exactMatch DOID:799 property_value: exactMatch http://identifiers.org/mesh/D014648 property_value: exactMatch http://identifiers.org/snomedct/128060009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042345 property_value: exactMatch https://omim.org/entry/192200 property_value: exactMatch NCIT:C35114 [Term] id: MONDO:0008641 name: retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations def: "An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction." [Orphanet:247691] comment: Editor note: Orphanet:3421 is obsolete in the 2017 edition of ORDO, but the Orphanet website shows as active, see https://github.com/Orphanet/ORDO/issues/1 subset: gard_rare subset: ordo_disease {source="Orphanet:247691"} synonym: "ADRVCL" RELATED ABBREVIATION [GARD:0001217] synonym: "autosomal dominant retinal vasculopathy with cerebral leukodystrophy" RELATED [GARD:0001217] synonym: "cerebroretinal vasculopathy" RELATED [Orphanet:3421, PMID:3174024] synonym: "cerebroretinal vasculopathy, hereditary" RELATED [GARD:0001217, OMIM:192315] synonym: "CRV" RELATED ABBREVIATION [GARD:0001217] synonym: "grand Kaine fulling syndrome" RELATED [GARD:0002558] synonym: "grand-Kaine-fulling syndrome" RELATED [Orphanet:3421, PMID:3174024] synonym: "hereditary vascular retinopathy" EXACT [GARD:0010535] synonym: "HVR" RELATED ABBREVIATION [GARD:0010535] synonym: "retinal vasculopathy and cerebral leukoencephalopathy" EXACT [Orphanet:247691] synonym: "retinal vasculopathy with cerebral leukodystrophy" RELATED [GARD:0001217] synonym: "retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena" RELATED [GARD:0001217, OMIM:192315] synonym: "RVCL" EXACT ABBREVIATION [GARD:0001217, MONDO:Lexical, OMIM:192315, Orphanet:247691] synonym: "RVCL-S" EXACT [Orphanet:247691] synonym: "vasculopathy, retinal, with cerebral leukodystrophy" RELATED [MONDO:Lexical, OMIM:192315] synonym: "vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations" EXACT [OMIM:192315, OMIM:genemap2] xref: DOID:0111567 {source="MONDO:equivalentTo"} xref: MESH:C566007 {source="MONDO:equivalentTo"} xref: OMIM:192315 {source="Orphanet:247691/e", source="MONDO:equivalentTo", source="GARD:0010535", source="GARD:0001217", source="Orphanet:247691"} xref: Orphanet:247691 {source="OMIM:192315", source="MONDO:equivalentTo", source="GARD:0001217"} xref: SCTID:720854004 {source="MONDO:equivalentTo"} xref: SCTID:721141004 {source="MONDO:equivalentObsolete"} xref: UMLS:C1860518 {source="OMIM:192315", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="GARD:0001217", source="Orphanet:247691"} is_a: MONDO:0002311 ! retinal vascular disorder is_a: MONDO:0018782 {source="Orphanet:247691"} ! type 1 interferonopathy is_a: MONDO:0019118 {source="Orphanet:247691"} ! inherited retinal dystrophy is_a: MONDO:0023603 ! hereditary disorder of connective tissue relationship: disease_has_feature MONDO:0019118 ! inherited retinal dystrophy property_value: exactMatch DOID:0111567 property_value: exactMatch http://identifiers.org/mesh/C566007 property_value: exactMatch http://identifiers.org/snomedct/720854004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860518 property_value: exactMatch https://omim.org/entry/192315 property_value: exactMatch Orphanet:247691 property_value: excluded_subClassOf MONDO:0019723 {source="Orphanet:247691"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10535/hereditary-vascular-retinopathy xsd:anyURI {source="GARD:0010535"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1217/retinal-vasculopathy-with-cerebral-leukodystrophy xsd:anyURI {source="GARD:0001217"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2558/grand-kaine-fulling-syndrome xsd:anyURI {source="GARD:0002558"} [Term] id: MONDO:0008642 name: VACTERL/vater association def: "VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities." [Orphanet:887] subset: ordo_malformation_syndrome {source="Orphanet:887"} synonym: "VACTERL association" EXACT [MONDO:0002007, Orphanet:887] synonym: "VATER association" EXACT [Orphanet:887] synonym: "VATER syndrome" RELATED [DOID:14679] synonym: "VATER/VACTERL association" RELATED [OMIM:192350] synonym: "vertebral abnormalities, anal atresia, Cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome" EXACT [NCIT:C99105] xref: DOID:14679 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10053665 {source="Orphanet:887", source="Orphanet:887/e"} xref: MedDRA:10066022 {source="Orphanet:887", source="Orphanet:887/e"} xref: NCIT:C99105 {source="MONDO:equivalentTo"} xref: OMIM:192350 {source="DOID:14679", source="Orphanet:887", source="MONDO:equivalentTo", source="Orphanet:887/e"} xref: Orphanet:887 {source="MONDO:equivalentTo", source="OMIM:192350"} xref: SCTID:27742002 {source="DOID:14679", source="MONDO:equivalentTo"} xref: UMLS:C0220708 {source="DOID:14679", source="Orphanet:887", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:887/e", source="OMIM:192350"} xref: UMLS:C1735591 {source="Orphanet:887", source="MONDO:equivalentTo", source="Orphanet:887/e", source="OMIM:192350", source="NCIT:C99105"} xref: UMLS:CN206312 {source="MONDO:equivalentTo"} is_a: MONDO:0015161 {source="Orphanet:887"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015208 {source="Orphanet:887"} ! syndromic esophageal malformation is_a: MONDO:0015246 {source="Orphanet:887"} ! syndromic anorectal malformation property_value: closeMatch http://identifiers.org/meddra/10053665 property_value: closeMatch http://identifiers.org/meddra/10066022 property_value: exactMatch DOID:14679 property_value: exactMatch http://identifiers.org/snomedct/27742002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220708 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1735591 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206312 property_value: exactMatch https://omim.org/entry/192350 property_value: exactMatch NCIT:C99105 property_value: exactMatch Orphanet:887 [Term] id: MONDO:0008645 name: ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome def: "This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence." [Orphanet:3201] subset: ordo_malformation_syndrome {source="Orphanet:3201"} synonym: "Stoll-Kieny-Dott syndrome" EXACT [Orphanet:3201] synonym: "ventricular extrasystoles perodactyly Robin sequence" RELATED [GARD:0005472] synonym: "ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence" RELATED [GARD:0005472] synonym: "ventricular extrasystoles with syncope, perodactyly, and ROBIN sequence" RELATED [OMIM:192445] xref: MESH:C537497 {source="MONDO:equivalentTo"} xref: OMIM:192445 {source="Orphanet:3201", source="MONDO:equivalentTo", source="Orphanet:3201/e"} xref: Orphanet:3201 {source="OMIM:192445", source="MONDO:equivalentTo"} xref: SCTID:719823007 {source="MONDO:equivalentTo"} is_a: MONDO:0015161 {source="Orphanet:3201"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability property_value: exactMatch http://identifiers.org/mesh/C537497 property_value: exactMatch http://identifiers.org/snomedct/719823007 property_value: exactMatch https://omim.org/entry/192445 property_value: exactMatch Orphanet:3201 [Term] id: MONDO:0008646 name: obsolete long QT syndrome 1 property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2330 xsd:anyURI is_obsolete: true replaced_by: MONDO:0100316 [Term] id: MONDO:0008648 name: ventricular tachycardia, familial def: "An instance of ventricular tachycardia that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] synonym: "familial ventricular tachycardia" RELATED [GARD:0002263] synonym: "hereditary ventricular tachycardia" EXACT [MONDO:patterns/hereditary] synonym: "ventricular tachycardia, familial" EXACT [OMIM:192605] synonym: "ventricular tachycardia, familial polymorphic" RELATED [OMIM:192605] synonym: "ventricular tachycardia, idiopathic" EXACT [OMIM:192605, OMIM:genemap2] xref: OMIM:192605 {source="MONDO:equivalentTo"} xref: SCTID:233906007 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0005306 {source="MONDO:Redundant", source="OMIM:192605"} ! ventricular tachycardia intersection_of: EFO:0005306 ! ventricular tachycardia intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/snomedct/233906007 property_value: exactMatch https://omim.org/entry/192605 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008650 name: posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome def: "Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome is characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters." [Orphanet:2064] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2064"} synonym: "congenital ptosis and posterior fusion of lumbosacral vertebrae" RELATED [GARD:0005487] synonym: "familial posterior lumbosacral vertebral fusion and eyelid ptosis" RELATED [GARD:0005487] synonym: "Faulk Epstein Jones syndrome" RELATED [GARD:0002276] synonym: "Faulk-Epstein-Jones syndrome" EXACT [Orphanet:2064] synonym: "vertebral fusion posterior lumbosacral blepharoptosis" RELATED [GARD:0005487] synonym: "vertebral fusion, POSTERIOR lumbosacral, with blepharoptosis" RELATED [OMIM:192800] xref: MESH:C536344 {source="Orphanet:2064/e", source="MONDO:equivalentTo", source="Orphanet:2064"} xref: OMIM:192800 {source="GARD:0002276", source="Orphanet:2064/e", source="MONDO:equivalentTo", source="Orphanet:2064"} xref: Orphanet:2064 {source="OMIM:192800", source="MONDO:equivalentTo"} xref: SCTID:724064004 {source="MONDO:equivalentTo"} xref: UMLS:C1860464 {source="OMIM:192800", source="Orphanet:2064/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2064"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:2064"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C536344 property_value: exactMatch http://identifiers.org/snomedct/724064004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860464 property_value: exactMatch https://omim.org/entry/192800 property_value: exactMatch Orphanet:2064 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2276/faulk-epstein-jones-syndrome xsd:anyURI {source="GARD:0002276"} [Term] id: MONDO:0008652 name: congenital vertical talus def: "Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus." [Orphanet:178382] subset: gard_rare {source="GARD:0005488"} subset: ordo_morphological_anomaly {source="Orphanet:178382"} synonym: "Charcot-Marie-Tooth disease, foot deformity of" EXACT [OMIM:192950, OMIM:genemap2] synonym: "congenital convex foot" EXACT [Orphanet:178382] synonym: "congenital convex pes valgus" EXACT [Orphanet:178382] synonym: "congenital rocker-bottom foot" EXACT [Orphanet:178382] synonym: "CVT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:192950] synonym: "pes valgus, congenital convex" RELATED [OMIM:192950] synonym: "rocker bottom foot" RELATED [GARD:0005488] synonym: "rocker-bottom foot" RELATED [OMIM:192950] synonym: "rocker-bottom foot deformity" RELATED [GARD:0005488] synonym: "vertical talus" RELATED [GARD:0005488] synonym: "vertical talus, congenital" RELATED [GARD:0005488, MONDO:Lexical, OMIM:192950] xref: DOID:0111568 {source="MONDO:equivalentTo"} xref: ICD9:755.67 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10066242 {source="Orphanet:178382/e", source="Orphanet:178382"} xref: MESH:C536345 {source="MONDO:equivalentTo"} xref: OMIM:192950 {source="Orphanet:178382/e", source="MONDO:equivalentTo", source="Orphanet:178382"} xref: Orphanet:178382 {source="OMIM:192950", source="MONDO:equivalentTo"} xref: SCTID:205082007 {source="MONDO:equivalentTo"} is_a: MONDO:0017427 {source="Orphanet:178382"} ! congenital deformities of limbs property_value: closeMatch http://identifiers.org/meddra/10066242 property_value: exactMatch DOID:0111568 property_value: exactMatch http://identifiers.org/mesh/C536345 property_value: exactMatch http://identifiers.org/snomedct/205082007 property_value: exactMatch https://omim.org/entry/192950 property_value: exactMatch Orphanet:178382 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5488/congenital-vertical-talus xsd:anyURI {source="GARD:0005488"} [Term] id: MONDO:0008659 name: transcobalamin I deficiency subset: gard_rare {source="GARD:0005239"} subset: ordo_disease {source="Orphanet:2967"} synonym: "cobalamin Pseudodeficiency due to transcobalamin deficiency" RELATED [OMIM:193090] synonym: "cobalamin R Binder Protein deficiency" RELATED [OMIM:193090] synonym: "Haptocorrin deficiency" EXACT [Orphanet:2967] synonym: "R Binder deficiency with lactoferrin deficiency" RELATED [OMIM:193090] synonym: "TCI deficiency" EXACT [Orphanet:2967] synonym: "Tcn1 deficiency" RELATED [OMIM:193090] synonym: "transcobalamin 1 deficiency" RELATED [GARD:0005239] synonym: "transcobalamin 1 deficiency with lactoferrin deficiency" RELATED [OMIM:193090] synonym: "transcobalamin I deficiency" EXACT [OMIM:193090] synonym: "transcobalamin-1 deficiency" EXACT [Orphanet:2967] xref: MESH:C562798 {source="MONDO:equivalentTo"} xref: OMIM:193090 {source="Orphanet:2967/e", source="MONDO:equivalentTo", source="Orphanet:2967"} xref: Orphanet:2967 {source="OMIM:193090", source="MONDO:equivalentTo"} xref: SCTID:237933007 {source="MONDO:equivalentTo"} xref: UMLS:C0342700 {source="OMIM:193090", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2967"} is_a: MONDO:0019220 {source="Orphanet:2967"} ! inborn disorder of cobalamin metabolism and transport property_value: exactMatch http://identifiers.org/mesh/C562798 property_value: exactMatch http://identifiers.org/snomedct/237933007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342700 property_value: exactMatch https://omim.org/entry/193090 property_value: exactMatch Orphanet:2967 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5239/transcobalamin-1-deficiency xsd:anyURI {source="GARD:0005239"} [Term] id: MONDO:0008660 name: autosomal dominant hypophosphatemic rickets def: "Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia." [Orphanet:89937] subset: ordo_disease {source="Orphanet:89937"} synonym: "ADHR" EXACT ABBREVIATION [MONDO:Lexical, OMIM:193100, Orphanet:89937] synonym: "autosomal dominant hereditary hypophosphatemic rickets" EXACT [MONDO:design_pattern] synonym: "autosomal dominant hypophosphatemia" EXACT [Orphanet:89937] synonym: "autosomal dominant hypophosphatemic rickets" EXACT [] synonym: "hereditary hypophosphatemic rickets, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] synonym: "hypophosphatemia, autosomal dominant" RELATED [OMIM:193100] synonym: "hypophosphatemic rickets, autosomal dominant" EXACT [MONDO:Lexical, MONDO:patterns/autosomal_dominant, OMIM:193100] synonym: "vitamin D-resistant rickets, autosomal dominant" RELATED [OMIM:193100] xref: DOID:0050948 {source="MONDO:equivalentTo"} xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="Orphanet:89937", source="Orphanet:89937/attributed", source="Orphanet:89937/ntbt"} xref: MESH:C562791 {source="MONDO:equivalentTo"} xref: OMIM:193100 {source="MONDO:equivalentTo", source="Orphanet:89937", source="DOID:0050948", source="Orphanet:89937/e"} xref: Orphanet:89937 {source="MONDO:equivalentTo", source="OMIM:193100"} xref: SCTID:237889002 {source="MONDO:equivalentTo"} xref: UMLS:C0342642 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:89937", source="OMIM:193100", source="Orphanet:89937/e"} is_a: MONDO:0000044 {source="DC-OMIM:193100", source="MONDO:Redundant", source="OMIM:193100", source="Orphanet:89937"} ! hereditary hypophosphatemic rickets is_a: MONDO:0000426 {source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder property_value: exactMatch DOID:0050948 property_value: exactMatch http://identifiers.org/mesh/C562791 property_value: exactMatch http://identifiers.org/snomedct/237889002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342642 property_value: exactMatch https://omim.org/entry/193100 property_value: exactMatch Orphanet:89937 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0008662 name: autosomal dominant vitreoretinochoroidopathy def: "Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees." [Orphanet:3086] subset: ordo_disease {source="Orphanet:3086"} synonym: "ADVIRC" EXACT ABBREVIATION [Orphanet:3086] synonym: "microcornea, Rod-cone dystrophy, cataract, and posterior staphyloma" RELATED [OMIM:193220] synonym: "vitreoretinochoroidopathy" RELATED [MONDO:Lexical, OMIM:193220] synonym: "vitreoretinochoroidopathy dominant" RELATED [GARD:0005507] synonym: "vitreoretinochoroidopathy with microcornea, glaucoma, and cataract" RELATED [OMIM:193220] synonym: "vitreoretinochoroidopathy, autosomal dominant" RELATED [OMIM:193220] synonym: "vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos" RELATED [OMIM:193220] synonym: "VRCP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:193220] synonym: "VRCP autosomal dominant" RELATED [GARD:0005507] xref: DOID:0111569 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:3086/attributed", source="Orphanet:3086/ntbt", source="Orphanet:3086"} xref: MESH:C536352 {source="Orphanet:3086/e", source="MONDO:equivalentTo", source="Orphanet:3086"} xref: OMIM:193220 {source="Orphanet:3086/e", source="MONDO:equivalentTo", source="Orphanet:3086"} xref: Orphanet:3086 {source="MONDO:equivalentTo", source="OMIM:193220"} xref: SCTID:711162004 {source="MONDO:equivalentTo"} xref: UMLS:C3888099 {source="MONDO:equivalentTo", source="Orphanet:3086"} is_a: MONDO:0020248 {source="Orphanet:3086"} ! vitreoretinal degeneration property_value: exactMatch DOID:0111569 property_value: exactMatch http://identifiers.org/mesh/C536352 property_value: exactMatch http://identifiers.org/snomedct/711162004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888099 property_value: exactMatch https://omim.org/entry/193220 property_value: exactMatch Orphanet:3086 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008663 name: snowflake vitreoretinal degeneration def: "Snowflake vitreoretinal degeneration (SVD) is characterized by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localized to a small region on chromosome 2q36." [Orphanet:91496] subset: gard_rare {source="GARD:0009706"} subset: ordo_disease {source="Orphanet:91496"} synonym: "snowflake degeneration in hereditary vitreoretinal degeneration" RELATED [GARD:0009706] synonym: "snowflake vitreoretinal degeneration" EXACT [OMIM:193230] synonym: "SVD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:193230] synonym: "vitreoretinal degeneration, snowflake type" RELATED [GARD:0009706, MONDO:Lexical, OMIM:193230] xref: DOID:0111570 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.5 {source="Orphanet:91496/attributed", source="Orphanet:91496/ntbt", source="MONDO:relatedTo", source="Orphanet:91496"} xref: MESH:C536677 {source="Orphanet:91496", source="MONDO:equivalentTo", source="Orphanet:91496/e"} xref: OMIM:193230 {source="Orphanet:91496", source="MONDO:equivalentTo", source="Orphanet:91496/e"} xref: Orphanet:91496 {source="MONDO:equivalentTo", source="OMIM:193230"} xref: UMLS:C1860405 {source="Orphanet:91496", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:193230", source="Orphanet:91496/e"} is_a: MONDO:0020248 {source="Orphanet:91496"} ! vitreoretinal degeneration property_value: exactMatch DOID:0111570 property_value: exactMatch http://identifiers.org/mesh/C536677 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860405 property_value: exactMatch https://omim.org/entry/193230 property_value: exactMatch Orphanet:91496 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9706/snowflake-vitreoretinal-degeneration xsd:anyURI {source="GARD:0009706"} [Term] id: MONDO:0008664 name: obsolete autosomal dominant neovascular inflammatory vitreoretinopathy property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3110 xsd:anyURI is_obsolete: true replaced_by: MONDO:0006928 [Term] id: MONDO:0008665 name: ptosis-vocal cord paralysis syndrome def: "Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983." [Orphanet:2997] subset: ordo_malformation_syndrome {source="Orphanet:2997"} synonym: "congenital bilateral recurrent nerve paralysis and ptosis" RELATED [GARD:0000427] synonym: "ptosis vocal cord paralysis" RELATED [GARD:0000427] synonym: "tucker syndrome" EXACT [Orphanet:2997] synonym: "vocal cord paralysis and ptosis" RELATED [OMIM:193240] xref: MESH:C536923 {source="MONDO:equivalentTo"} xref: OMIM:193240 {source="MONDO:equivalentTo", source="Orphanet:2997", source="Orphanet:2997/e"} xref: Orphanet:2997 {source="MONDO:equivalentTo", source="OMIM:193240"} xref: UMLS:C1860403 {source="MONDO:equivalentTo", source="Orphanet:2997", source="MONDO:ncbi_mim2gene_medline", source="OMIM:193240"} is_a: MONDO:0020158 {source="MONDO:0020169-obsoleted"} ! eyelids malposition disorder property_value: exactMatch http://identifiers.org/mesh/C536923 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860403 property_value: exactMatch https://omim.org/entry/193240 property_value: exactMatch Orphanet:2997 [Term] id: MONDO:0008666 name: volvulus of midgut def: "A congenital abnormality in which the intestine is abnormally rotated (twisted). It may result in intestinal obstruction." [NCIT:C98961] synonym: "congenital malrotation of intestine" EXACT [NCIT:C98961] synonym: "intestinal malrotation" EXACT [NCIT:C98961] synonym: "intestinal malrotation, familial" RELATED [OMIM:193250] synonym: "volvulus of midgut" EXACT [OMIM:193250] xref: MESH:C562456 {source="MONDO:equivalentTo"} xref: NCIT:C98961 {source="MONDO:equivalentTo"} xref: OMIM:193250 {source="MONDO:equivalentTo"} xref: SCTID:458422009 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C562456 property_value: exactMatch http://identifiers.org/snomedct/458422009 property_value: exactMatch https://omim.org/entry/193250 property_value: exactMatch NCIT:C98961 [Term] id: MONDO:0008667 name: von Hippel-Lindau disease def: "A familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." [https://orcid.org/0000-0001-5208-3432, Orphanet:892] subset: clingen subset: gard_rare {source="GARD:0007855"} subset: ordo_disease {source="Orphanet:892"} synonym: "cerebroretinal angiomatosis" EXACT [NCIT:C3105] synonym: "familial cerebelloretinal angiomatosis" EXACT [Orphanet:892] synonym: "Hippel Lindau syndrome" EXACT [DOID:14175] synonym: "Lindau disease" EXACT [Orphanet:892] synonym: "VHL" EXACT ABBREVIATION [MONDO:Lexical, OMIM:193300, Orphanet:892] synonym: "VHL syndrome" RELATED [GARD:0007855] synonym: "Von Hippel Lindau disease" RELATED [GARD:0007855] synonym: "von Hippel-Lindau disease" EXACT [] synonym: "Von Hippel-Lindau syndrome" EXACT [MONDO:Lexical, OMIM:193300, Orphanet:892] synonym: "von Hippel-Lindau syndrome" EXACT [DOID:14175] synonym: "Von Hippel-Lindau syndrome (VHL)" EXACT [DOID:14175, NCIT:C3105] synonym: "von Hippel-Lindau syndrome, modifier of" EXACT [OMIM:193300, OMIM:genemap2] synonym: "Von Hippel-Lindau syndrome, Modifiers of" RELATED [OMIM:193300] xref: DOID:14175 {source="MONDO:equivalentTo"} xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10047716 {source="Orphanet:892/e", source="Orphanet:892"} xref: MESH:D006623 {source="Orphanet:892/e", source="DOID:14175", source="MONDO:equivalentTo", source="Orphanet:892"} xref: NCIT:C3105 {source="DOID:14175", source="MONDO:equivalentTo"} xref: OMIM:193300 {source="Orphanet:892/e", source="DOID:14175", source="MONDO:equivalentTo", source="Orphanet:892"} xref: Orphanet:892 {source="MONDO:equivalentTo", source="OMIM:193300"} xref: SCTID:46659004 {source="DOID:14175", source="MONDO:equivalentTo"} xref: UMLS:C0019562 {source="Orphanet:892/e", source="DOID:14175", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C3105", source="Orphanet:892", source="OMIM:193300"} is_a: MONDO:0042983 {source="MESH:D006623", source="NCIT:C3105", source="Wikipedia:Phakomatosis"} ! neurocutaneous syndrome relationship: has_characteristic MONDO:0021136 {source="MONDO:0019110"} ! rare property_value: closeMatch http://identifiers.org/meddra/10047716 property_value: exactMatch DOID:14175 property_value: exactMatch http://identifiers.org/mesh/D006623 property_value: exactMatch http://identifiers.org/snomedct/46659004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019562 property_value: exactMatch https://omim.org/entry/193300 property_value: exactMatch NCIT:C3105 property_value: exactMatch Orphanet:892 property_value: excluded_subClassOf MONDO:0005328 {source="MONDO:0020222-obsoleted"} property_value: excluded_subClassOf MONDO:0015079 {source="Orphanet:892"} property_value: excluded_subClassOf MONDO:0015953 {source="Orphanet:892"} property_value: excluded_subClassOf MONDO:0016756 {source="Orphanet:892"} property_value: excluded_subClassOf MONDO:0017891 {source="Orphanet:892"} property_value: excluded_subClassOf MONDO:0019741 {source="Orphanet:892"} property_value: excluded_subClassOf MONDO:0019755 property_value: excluded_subClassOf MONDO:0020676 {source="Orphanet:892"} property_value: excluded_subClassOf MONDO:0021147 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7855/von-hippel-lindau-disease xsd:anyURI {source="GARD:0007855"} [Term] id: MONDO:0008668 name: von Willebrand disease 1 def: "Type 1 von Willebrand disease (type 1 VWD) is a form of VWD characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF)." [Orphanet:166078] subset: ordo_clinical_subtype {source="Orphanet:166078"} synonym: "von Willebrand disease 1" EXACT [] synonym: "von Willebrand disease type 1" EXACT [DOID:0060573] synonym: "von Willebrand disease type I" EXACT [DOID:0060573] synonym: "VON WILLEBRAND disease, type 1" RELATED [MONDO:Lexical, OMIM:193400] synonym: "Von Willebrand disease, type 1" RELATED [OMIM:193400] synonym: "von willebrand's disease 1" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] synonym: "von Willebrand's disease type 1" EXACT [DOID:0060573, MONDORULE:1] synonym: "VWD type 1" EXACT [DOID:0060573] synonym: "VWD, type 1" RELATED [OMIM:193400] synonym: "VWD1" EXACT ABBREVIATION [DOID:0060573, MONDO:Lexical, OMIM:193400] xref: DOID:0060573 {source="MONDO:equivalentTo"} xref: MESH:D056725 {source="DOID:0060573", source="Orphanet:166078", source="MONDO:equivalentTo", source="Orphanet:166078/e"} xref: NCIT:C131685 {source="MONDO:equivalentTo"} xref: OMIM:193400 {source="DOID:0060573", source="Orphanet:166078", source="MONDO:equivalentTo", source="Orphanet:166078/e"} xref: Orphanet:166078 {source="OMIM:193400", source="MONDO:equivalentTo"} xref: SCTID:128106003 {source="MONDO:equivalentTo"} xref: UMLS:C1264039 {source="OMIM:193400", source="DOID:0060573", source="Orphanet:166078", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:166078/e", source="NCIT:C131685"} is_a: MONDO:0019565 {source="DC-OMIM:193400", source="DOID:0060573", source="MESH:D056725", source="NCIT:C131685", source="Orphanet:166078"} ! hereditary von Willebrand disease property_value: exactMatch DOID:0060573 property_value: exactMatch http://identifiers.org/mesh/D056725 property_value: exactMatch http://identifiers.org/snomedct/128106003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1264039 property_value: exactMatch https://omim.org/entry/193400 property_value: exactMatch NCIT:C131685 property_value: exactMatch Orphanet:166078 [Term] id: MONDO:0008670 name: Waardenburg syndrome type 1 def: "Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." [Orphanet:894] subset: gard_rare {source="GARD:0005519"} subset: ordo_clinical_subtype {source="Orphanet:894"} synonym: "Waardenburg syndrome type 1" EXACT [] synonym: "Waardenburg syndrome type I" EXACT [DOID:0110948, Orphanet:894] synonym: "Waardenburg syndrome with dystopia canthorum" RELATED [OMIM:193500] synonym: "Waardenburg syndrome, type 1" RELATED [MONDO:Lexical, OMIM:193500] synonym: "Waardenburg's syndrome type 1" RELATED [GARD:0005519] synonym: "WS1" EXACT ABBREVIATION [DOID:0110948, MONDO:Lexical, OMIM:193500, Orphanet:894] xref: DOID:0110948 {source="MONDO:equivalentTo"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:894/attributed", source="Orphanet:894/ntbt", source="DOID:0110948", source="Orphanet:894"} xref: NCIT:C75008 {source="MONDO:equivalentTo"} xref: OMIM:193500 {source="Orphanet:894/e", source="MONDO:equivalentTo", source="DOID:0110948", source="Orphanet:894"} xref: Orphanet:894 {source="OMIM:193500", source="MONDO:equivalentTo", source="DOID:0110948"} xref: UMLS:C1847800 {source="OMIM:193500", source="NCIT:C75008", source="Orphanet:894/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:0110948", source="Orphanet:894"} is_a: MONDO:0018094 {source="DC-OMIM:193500", source="DOID:0110948", source="NCIT:C75008", source="OMIM:193500", source="Orphanet:894"} ! Waardenburg syndrome property_value: exactMatch DOID:0110948 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847800 property_value: exactMatch https://omim.org/entry/193500 property_value: exactMatch NCIT:C75008 property_value: exactMatch Orphanet:894 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5519/waardenburg-syndrome-type-1 xsd:anyURI {source="GARD:0005519"} [Term] id: MONDO:0008672 name: Watson syndrome def: "Watson syndrome is believed to be a variant of neurofibromatosis type 1. The symptoms of this condition are pulmonary valvular stenosis, cafe-au-lait spots and short stature. IQTest scores for individuals with Watson syndromecan rangebetween 60-100.Many people with this condition also have a larger than average head size (macrocephaly) and Lisch nodules. While mutations in the NF1 gene have been found in families with Watson syndrome, the exactcause of this condition is unknown. The conditionis inherited in an autosomal dominant pattern. Treatment aims at managing the specific symptoms of an individual." [https://rarediseases.info.nih.gov/diseases/5540/watson-syndrome] subset: gard_rare {source="GARD:0005540"} synonym: "cafe-Au-lait Spots with pulmonic stenosis" RELATED [OMIM:193520] synonym: "pulmonic stenosis with cafe-Au-lait Spots" RELATED [OMIM:193520] synonym: "Watson syndrome" EXACT [MONDO:Lexical, OMIM:193520] synonym: "WTSN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:193520] xref: ICD9:709.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:193520 {source="MONDO:equivalentTo"} xref: Orphanet:3444 {source="MONDO:equivalentObsolete", source="OMIM:193520"} xref: SCTID:403820003 {source="MONDO:equivalentTo"} xref: UMLS:CN204429 {source="MONDO:equivalentTo"} is_a: MONDO:0011035 ! neurofibromatosis-Noonan syndrome property_value: exactMatch http://identifiers.org/snomedct/403820003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204429 property_value: exactMatch https://omim.org/entry/193520 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5540/watson-syndrome xsd:anyURI {source="GARD:0005540"} [Term] id: MONDO:0008673 name: acrofacial dysostosis, Weyers type def: "Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome, an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner." [Orphanet:952] subset: ordo_malformation_syndrome {source="Orphanet:952"} synonym: "acrodental dysostosis of Weyers" RELATED [OMIM:193530] synonym: "acrofacial dysostosis of Weyers" RELATED [GARD:0000497] synonym: "curry Hall syndrome" RELATED [GARD:0000497] synonym: "curry-Hall syndrome" EXACT [OMIM:193530, Orphanet:952] synonym: "wad" RELATED [MONDO:Lexical, OMIM:193530] synonym: "Weyers acrodental dysostosis" EXACT [Orphanet:952] synonym: "Weyers acrofacial dysostosis" EXACT [MONDO:Lexical, OMIM:193530, Orphanet:952] xref: DOID:0111571 {source="MONDO:equivalentTo"} xref: ICD9:520.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536695 {source="Orphanet:952", source="MONDO:equivalentTo", source="Orphanet:952/e"} xref: OMIM:193530 {source="Orphanet:952", source="MONDO:equivalentTo", source="Orphanet:952/e"} xref: Orphanet:952 {source="MONDO:equivalentTo", source="OMIM:193530"} xref: SCTID:277807007 {source="MONDO:equivalentTo"} xref: UMLS:C0457013 {source="Orphanet:952", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:952/e", source="OMIM:193530"} is_a: MONDO:0015161 {source="Orphanet:952"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015334 {source="Orphanet:952"} ! branchial arch or oral-acral syndrome is_a: MONDO:0018237 {source="Orphanet:952"} ! acrofacial dysostosis is_a: MONDO:0019287 {source="Orphanet:952"} ! ectodermal dysplasia syndrome is_a: MONDO:0800085 {source="PMID:31633310"} ! dysostosis with predominant craniofacial involvement property_value: exactMatch DOID:0111571 property_value: exactMatch http://identifiers.org/mesh/C536695 property_value: exactMatch http://identifiers.org/snomedct/277807007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0457013 property_value: exactMatch https://omim.org/entry/193530 property_value: exactMatch Orphanet:952 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0008676 name: white sponge nevus 1 def: "Any hereditary mucosal leukokeratosis in which the cause of the disease is a mutation in the KRT4 gene." [MONDO:patterns/disease_series_by_gene] synonym: "hereditary mucosal leukokeratosis caused by mutation in KRT4" EXACT [MONDO:design_pattern] synonym: "KRT4 hereditary mucosal leukokeratosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "leukokeratosis, hereditary mucosal" RELATED [OMIM:193900] synonym: "WHITE sponge NEVUS 1" RELATED [OMIM:193900] synonym: "white sponge nevus 1" EXACT [MONDO:Lexical, OMIM:193900] synonym: "White sponge Nevus of Cannon" RELATED [OMIM:193900] synonym: "White sponge Nevus type 1" EXACT [MONDORULE:1, OMIM:193900] synonym: "WSN1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:193900] xref: DOID:0081287 {source="MONDO:equivalentTo"} xref: OMIM:193900 {source="MONDO:equivalentTo"} xref: UMLS:C4011926 {source="MONDO:equivalentTo"} is_a: MONDO:0015748 {source="DC-OMIM:193900", source="MONDO:Redundant", source="OMIM:193900"} ! hereditary mucosal leukokeratosis property_value: exactMatch DOID:0081287 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4011926 property_value: exactMatch https://omim.org/entry/193900 [Term] id: MONDO:0008678 name: Williams syndrome def: "A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)" [https://orcid.org/0000-0001-5208-3432, Orphanet:904] subset: ordo_malformation_syndrome {source="Orphanet:904"} synonym: "chromosome 7Q11.23 deletion syndrome, 1.5- to 1.8-Mb" RELATED [OMIM:194050] synonym: "deletion 7q11.23" EXACT [Orphanet:904] synonym: "Fanconi Schlesinger syndrome" EXACT [DOID:1928] synonym: "monosomy 7q11.23" EXACT [Orphanet:904] synonym: "WBS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:194050] synonym: "Williams syndrome" EXACT [OMIM:194050] synonym: "Williams-Beuren syndrome" EXACT [MONDO:Lexical, OMIM:194050, Orphanet:904] synonym: "Williams-Beuren syndrome (WBS)" EXACT [NCIT:C85232] synonym: "WMS" RELATED ABBREVIATION [GARD:0007891] xref: DECIPHER:3 {source="MONDO:equivalentTo"} xref: DOID:1928 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10049644 {source="Orphanet:904", source="Orphanet:904/e"} xref: MESH:D018980 {source="DOID:1928", source="MONDO:equivalentTo", source="Orphanet:904", source="Orphanet:904/e"} xref: NCIT:C85232 {source="DOID:1928", source="MONDO:equivalentTo"} xref: OMIM:194050 {source="DOID:1928", source="MONDO:equivalentTo", source="Orphanet:904", source="Orphanet:904/e"} xref: Orphanet:904 {source="MONDO:equivalentTo", source="OMIM:194050"} xref: SCTID:63247009 {source="DOID:1928", source="MONDO:equivalentTo"} xref: UMLS:C0175702 {source="DOID:1928", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:194050", source="Orphanet:904", source="NCIT:C85232", source="Orphanet:904/e"} is_a: EFO:0010642 {source="https://orcid.org/0000-0002-4142-7153"} ! Neurodevelopmental disorder is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C85232"} ! syndromic disease is_a: MONDO:0016906 {source="Orphanet:904", source="https://orcid.org/0000-0001-5208-3432"} ! partial deletion of the long arm of chromosome 7 relationship: disease_has_feature MONDO:0008504 {source="MONDO:Wikidata"} ! supravalvular aortic stenosis property_value: closeMatch http://identifiers.org/meddra/10049644 property_value: exactMatch DOID:1928 property_value: exactMatch http://identifiers.org/mesh/D018980 property_value: exactMatch http://identifiers.org/snomedct/63247009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0175702 property_value: exactMatch https://omim.org/entry/194050 property_value: exactMatch NCIT:C85232 property_value: exactMatch Orphanet:904 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:904"} property_value: excluded_subClassOf MONDO:0005071 {source="MONDO:0020016-obsoleted"} property_value: excluded_subClassOf MONDO:0005267 {source="MONDO:0015506-obsoleted"} property_value: excluded_subClassOf MONDO:0015159 {source="Orphanet:904"} property_value: excluded_subClassOf MONDO:0017656 {source="Orphanet:904"} property_value: excluded_subClassOf MONDO:0020165 {source="Orphanet:904"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0008679 name: Wilms tumor 1 synonym: "nephroblastoma" RELATED [OMIM:194070] synonym: "renal Wilms tumor" BROAD [DOID:2154, NCIT:C40407] synonym: "renal Wilms tumour" BROAD OMO:0003005 [] synonym: "Wilms tumor 1" EXACT [MONDO:Lexical, OMIM:194070] synonym: "Wilms tumor type 1" EXACT [MONDORULE:1, OMIM:194070] synonym: "Wilms tumor, autosomal dominant, somatic mutation" EXACT [OMIM:194070, OMIM:genemap2] synonym: "Wilms tumor, somatic" EXACT [OMIM:194070, OMIM:genemap2] synonym: "Wilms tumor, type 1, autosomal dominant, somatic mutation" EXACT [OMIM:194070, OMIM:genemap2] synonym: "Wilms tumour type 1" EXACT OMO:0003005 [] synonym: "Wilms' tumor" BROAD [DOID:2154] synonym: "Wilms' tumour" BROAD OMO:0003005 [] synonym: "WT1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:194070] xref: NCIT:C27730 {source="DOID:2154", source="MONDO:directSiblingOf"} xref: NCIT:C6180 {source="DOID:2154", source="MONDO:directSiblingOf"} xref: OMIM:194070 {source="DOID:2154", source="MONDO:equivalentTo"} xref: UMLS:C1332219 {source="DOID:2154", source="MONDO:directSiblingOf"} xref: UMLS:C1333015 {source="DOID:2154", source="MONDO:directSiblingOf"} xref: UMLS:CN033288 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0003321 {source="MONDO:Redundant", source="OMIM:194070"} ! hereditary Wilms tumor property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN033288 property_value: exactMatch https://omim.org/entry/194070 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008681 name: WAGR syndrome def: "WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor." [Orphanet:893] subset: gard_rare {source="GARD:0005528"} subset: ordo_malformation_syndrome {source="Orphanet:893"} synonym: "11p deletion" RELATED [GARD:0001732] synonym: "11p deletion syndrome" RELATED [GARD:0005528] synonym: "11p monosomy" RELATED [GARD:0001732] synonym: "11p partial monosomy syndrome" EXACT [NCIT:C3718] synonym: "AGR triad" RELATED [GARD:0005528] synonym: "chromosome 11p deletion" RELATED [GARD:0001732] synonym: "chromosome 11p deletion syndrome" RELATED [GARD:0005528] synonym: "chromosome 11P13 deletion syndrome" RELATED [OMIM:194072] synonym: "chromosome 11p13 deletion syndrome" EXACT [DOID:14515] synonym: "Del(11)(p13)" EXACT [Orphanet:893] synonym: "deletion 11p" RELATED [GARD:0001732] synonym: "deletion 11p13" EXACT [Orphanet:893] synonym: "monosomy 11p" RELATED [GARD:0001732] synonym: "monosomy 11p13" EXACT [Orphanet:893] synonym: "partial monosomy 11p" RELATED [GARD:0001732] synonym: "WAGR" RELATED DEPRECATED [MONDO:Lexical, OMIM:194072] synonym: "WAGR 11p13 deletion syndrome" EXACT [DECIPHER:35] synonym: "WAGR Complex" RELATED [GARD:0005528] synonym: "WAGR syndrome" EXACT [NCIT:C3718, OMIM:194072] synonym: "Wilms tumor, aniridia, genitourinary anomalies and developmental delay syndrome" EXACT [NCIT:C3718] synonym: "Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, autosomal dominant, somatic mutation" EXACT [OMIM:194072, OMIM:genemap2] synonym: "Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability syndrome" RELATED [MONDO:Lexical, OMIM:194072] synonym: "Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome" RELATED DEPRECATED [MONDO:Lexical, OMIM:194072] synonym: "Wilms tumor, aniridia, genitourinary anomalies, intellectual disability syndrome" RELATED [GARD:0005528] synonym: "Wilms tumor, aniridia, genitourinary anomalies, mental retardation syndrome" RELATED DEPRECATED [GARD:0005528] synonym: "Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome" EXACT [DOID:14515, NCIT:C3718, Orphanet:893] synonym: "Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome" EXACT DEPRECATED [DOID:14515, NCIT:C3718] synonym: "Wilms tumor-aniridia-gonadoblastoma-intellectual disability syndrome" RELATED [GARD:0005528] synonym: "Wilms tumor-aniridia-gonadoblastoma-mental retardation syndrome" RELATED DEPRECATED [GARD:0005528] xref: DECIPHER:35 {source="MONDO:equivalentTo"} xref: DOID:14515 {source="MONDO:equivalentTo"} xref: MESH:D017624 {source="DOID:14515", source="Orphanet:893/e", source="MONDO:equivalentTo", source="Orphanet:893"} xref: NCIT:C3718 {source="DOID:14515", source="MONDO:equivalentTo"} xref: OMIM:194072 {source="DOID:14515", source="Orphanet:893/e", source="MONDO:equivalentTo", source="Orphanet:893"} xref: Orphanet:893 {source="MONDO:equivalentTo", source="OMIM:194072"} xref: SCTID:715215007 {source="MONDO:equivalentTo"} xref: UMLS:C0206115 {source="DOID:14515", source="NCIT:C3718", source="Orphanet:893/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:194072", source="Orphanet:893"} xref: UMLS:C2931803 {source="Orphanet:893/e", source="MONDO:equivalentTo", source="Orphanet:893"} is_a: MONDO:0016565 {source="Orphanet:893"} ! syndromic genetic obesity is_a: MONDO:0016893 {source="Orphanet:893"} ! partial deletion of the short arm of chromosome 11 is_a: MONDO:0017891 {source="Orphanet:893"} ! inherited renal cancer-predisposing syndrome is_a: MONDO:0020148 {source="Orphanet:893"} ! syndromic aniridia is_a: MONDO:0957025 ! hereditary 46,XY disorder of sex development property_value: exactMatch DOID:14515 property_value: exactMatch http://identifiers.org/mesh/D017624 property_value: exactMatch http://identifiers.org/snomedct/715215007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206115 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931803 property_value: exactMatch https://omim.org/entry/194072 property_value: exactMatch NCIT:C3718 property_value: exactMatch Orphanet:893 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5528/wagr-syndrome xsd:anyURI {source="GARD:0005528"} [Term] id: MONDO:0008682 name: Denys-Drash syndrome def: "Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma." [Orphanet:220] subset: ordo_disease {source="Orphanet:220"} synonym: "DDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:194080] synonym: "Denys Drash syndrome" EXACT [NCIT:C84668] synonym: "Denys-Drash syndrome" EXACT [MONDO:Lexical, OMIM:194080] synonym: "Denys-Drash syndrome, autosomal dominant, somatic mutation" EXACT [OMIM:194080, OMIM:genemap2] synonym: "Drash syndrome" EXACT [OMIM:194080, Orphanet:220] synonym: "nephropathy associated with male pseudohermaphroditism and Wilms' tumor" RELATED [GARD:0005576] synonym: "nephropathy associated with male pseudohermaphroditism and Wilms' tumour" RELATED OMO:0003005 [] synonym: "nephropathy, Wilms tumor, and genital anomalies" RELATED [OMIM:194080] synonym: "nephrotic syndrome type 4" EXACT [NCIT:C84668] synonym: "pseudohermaphroditism, nephron disorder and Wilms' tumor" RELATED [GARD:0005576] synonym: "pseudohermaphroditism, nephron disorder and Wilms' tumour" RELATED OMO:0003005 [] synonym: "Wilms tumor and pseudo- or true hermaphroditism" RELATED [OMIM:194080] synonym: "Wilms tumor and pseudohermaphroditism" EXACT [Orphanet:220] synonym: "Wilms tumour and pseudo- or true hermaphroditism" RELATED OMO:0003005 [] synonym: "Wilms tumour and pseudohermaphroditism" EXACT OMO:0003005 [] xref: DOID:3764 {source="MONDO:equivalentTo"} xref: ICD9:189.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10070179 {source="Orphanet:220/e", source="Orphanet:220"} xref: MESH:D030321 {source="Orphanet:220/e", source="DOID:3764", source="MONDO:equivalentTo", source="Orphanet:220"} xref: NCIT:C84668 {source="DOID:3764", source="MONDO:equivalentTo"} xref: OMIM:194080 {source="Orphanet:220/e", source="DOID:3764", source="MONDO:equivalentTo", source="Orphanet:220"} xref: Orphanet:220 {source="OMIM:194080", source="MONDO:equivalentTo"} xref: SCTID:236385009 {source="DOID:3764", source="MONDO:equivalentTo"} xref: UMLS:C0950121 {source="OMIM:194080", source="NCIT:C84668", source="Orphanet:220/e", source="DOID:3764", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:220"} xref: UMLS:C3151568 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 {source="DOID:3764", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0957025 ! hereditary 46,XY disorder of sex development relationship: has_characteristic MONDO:0021136 ! rare property_value: closeMatch http://identifiers.org/meddra/10070179 property_value: exactMatch DOID:3764 property_value: exactMatch http://identifiers.org/mesh/D030321 property_value: exactMatch http://identifiers.org/snomedct/236385009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0950121 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151568 property_value: exactMatch https://omim.org/entry/194080 property_value: exactMatch NCIT:C84668 property_value: exactMatch Orphanet:220 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008684 name: Wolf-Hirschhorn syndrome def: "Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia." [Orphanet:280] subset: gard_rare {source="GARD:0007896"} subset: ordo_malformation_syndrome {source="Orphanet:280"} synonym: "4p deletion syndrome" EXACT [DOID:0050460] synonym: "4p syndrome" RELATED [GARD:0007896] synonym: "4p- syndrome" EXACT [Orphanet:280] synonym: "chromosome 4p syndrome" RELATED [GARD:0007896] synonym: "chromosome 4P16.3 deletion syndrome" RELATED [OMIM:194190] synonym: "chromosome 4p16.3 deletion syndrome" EXACT [DOID:0050460] synonym: "distal deletion 4p" EXACT [Orphanet:280] synonym: "distal monosomy 4p" EXACT [Orphanet:280] synonym: "microcephaly, IUGR, hypertelorism, ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation" RELATED [GARD:0007896] synonym: "Pitt syndrome" EXACT [DOID:0050460] synonym: "Pitt-Rogers-Danks syndrome" EXACT [DOID:0050460, OMIM:194190] synonym: "telomeric deletion 4p" EXACT [Orphanet:280] synonym: "WHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:194190] synonym: "Wittwer syndrome" EXACT [OMIM:194190] synonym: "Wolf syndrome" RELATED [GARD:0007896] synonym: "Wolf-Hirschhorn syndrome" EXACT [MONDO:Lexical, OMIM:194190] synonym: "Wolf-Hirschhorn syndrome, Isolated cases" EXACT [OMIM:194190, OMIM:genemap2] xref: DECIPHER:1 {source="MONDO:equivalentTo"} xref: DOID:0050460 {source="MONDO:equivalentTo"} xref: ICD10CM:Q93.3 {source="Orphanet:280/inclusion", source="Orphanet:280", source="MONDO:directSiblingOf", source="Orphanet:280/ntbt", source="DOID:0050460"} xref: MedDRA:10050361 {source="Orphanet:280", source="Orphanet:280/e"} xref: MESH:D054877 {source="MONDO:equivalentTo", source="Orphanet:280", source="Orphanet:280/e", source="DOID:0050460"} xref: NCIT:C35528 {source="MONDO:equivalentTo", source="DOID:0050460"} xref: OMIM:194190 {source="MONDO:equivalentTo", source="Orphanet:280", source="Orphanet:280/e", source="DOID:0050460"} xref: Orphanet:280 {source="OMIM:194190", source="MONDO:equivalentTo"} xref: SCTID:718226002 {source="MONDO:equivalentTo"} xref: UMLS:C0796117 {source="MONDO:equivalentTo", source="DOID:0050460"} xref: UMLS:C0796202 {source="MONDO:equivalentTo"} xref: UMLS:C1956097 {source="OMIM:194190", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:280", source="Orphanet:280/e", source="NCIT:C35528", source="DOID:0050460"} xref: UMLS:CN207113 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C35528"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:280"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0022762 {source="Orphanet:280"} ! chromosome 4 short arm deletion relationship: disease_has_feature EFO:0000474 {source="https://github.com/monarch-initiative/mondo/issues/1520", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy property_value: closeMatch http://identifiers.org/meddra/10050361 property_value: exactMatch DOID:0050460 property_value: exactMatch http://identifiers.org/mesh/D054877 property_value: exactMatch http://identifiers.org/snomedct/718226002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796117 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796202 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1956097 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207113 property_value: exactMatch https://omim.org/entry/194190 property_value: exactMatch NCIT:C35528 property_value: exactMatch Orphanet:280 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:280"} property_value: excluded_subClassOf MONDO:0005027 {source="MONDO:0015652-obsoleted", source="MONDO:Redundant", source="MONDO:indirect"} property_value: excluded_subClassOf MONDO:0019589 {source="Orphanet:280"} property_value: excluded_subClassOf MONDO:0020226 {source="Orphanet:280"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome xsd:anyURI {source="GARD:0007896"} [Term] id: MONDO:0008686 name: isolated familial wooly hair disorder def: "Woolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair." [Orphanet:170] subset: ordo_disease {source="Orphanet:170"} synonym: "ADWH" RELATED ABBREVIATION [OMIM:194300] synonym: "familial woolly hair (autosomal recessive)" RELATED OMO:0003005 [] synonym: "familial woolly hair syndrome" EXACT OMO:0003005 [] synonym: "familial wooly hair (autosomal recessive)" RELATED [GARD:0005597] synonym: "familial wooly hair syndrome" EXACT [Orphanet:170] synonym: "hereditary woolly hair (autosomal dominant)" RELATED OMO:0003005 [] synonym: "hereditary woolly hair syndrome" EXACT OMO:0003005 [] synonym: "hereditary wooly hair (autosomal dominant)" RELATED [GARD:0005597] synonym: "hereditary wooly hair syndrome" EXACT [Orphanet:170] synonym: "woolly hair" EXACT OMO:0003005 [] synonym: "woolly hair syndrome" RELATED OMO:0003005 [] synonym: "woolly hair, autosomal dominant" RELATED OMO:0003005 [] synonym: "wooly hair" EXACT [MONDO:ambiguous, Orphanet:170] synonym: "wooly hair syndrome" RELATED [GARD:0005597] synonym: "wooly hair, autosomal dominant" RELATED [MONDO:Lexical, OMIM:194300] xref: DOID:0111572 {source="MONDO:equivalentTo"} xref: HP:0002224 {source="MONDO:otherHierarchy"} xref: MedDRA:10048017 {source="Orphanet:170", source="Orphanet:170/e"} xref: MESH:C536745 {source="MONDO:equivalentTo", source="Orphanet:170", source="Orphanet:170/e"} xref: Orphanet:170 {source="MONDO:equivalentTo", source="OMIM:194300"} xref: SCTID:52564001 {source="MONDO:equivalentTo"} xref: UMLS:CN200245 {source="MONDO:equivalentTo"} is_a: MONDO:0019281 {source="Orphanet:170"} ! isolated genetic hair shaft abnormality property_value: closeMatch http://identifiers.org/meddra/10048017 property_value: exactMatch DOID:0111572 property_value: exactMatch http://identifiers.org/mesh/C536745 property_value: exactMatch http://identifiers.org/snomedct/52564001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200245 property_value: exactMatch Orphanet:170 [Term] id: MONDO:0008688 name: WT limb-blood syndrome def: "WT limb-blood syndrome is characterized by hematological anomalies (Fanconi anemia, leukemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly, and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant." [Orphanet:3466] subset: gard_rare {source="GARD:0000039"} subset: ordo_disease {source="Orphanet:3466"} synonym: "radial-ulnar hypoplasia with bone marrow failure and/or leukaemia" RELATED OMO:0003005 [] synonym: "radial-ulnar hypoplasia with bone marrow failure and/or leukemia" RELATED [GARD:0000039] synonym: "WT limb blood syndrome" RELATED [GARD:0000039] synonym: "WT limb-blood syndrome" EXACT [OMIM:194350] synonym: "WTsyndrome" RELATED [GARD:0000039] xref: MESH:C536751 {source="Orphanet:3466", source="MONDO:equivalentTo", source="Orphanet:3466/e"} xref: OMIM:194350 {source="Orphanet:3466", source="MONDO:equivalentTo", source="Orphanet:3466/e"} xref: Orphanet:3466 {source="MONDO:equivalentTo", source="OMIM:194350"} xref: SCTID:719019000 {source="MONDO:equivalentTo"} xref: UMLS:C1327917 {source="Orphanet:3466", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:194350", source="Orphanet:3466/e"} is_a: MONDO:0001713 {source="Orphanet:3466"} ! inherited aplastic anemia property_value: exactMatch http://identifiers.org/mesh/C536751 property_value: exactMatch http://identifiers.org/snomedct/719019000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1327917 property_value: exactMatch https://omim.org/entry/194350 property_value: exactMatch Orphanet:3466 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/39/wt-limb-blood-syndrome xsd:anyURI {source="GARD:0000039"} [Term] id: MONDO:0008689 name: dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema subset: gard_rare synonym: "dehydrated hereditary stomatocytosis" RELATED [OMIM:194380] synonym: "DEHYDRATED hereditary stomatocytosis 1 with or without pseudohyperkalemia and/OR perinatal edema" RELATED [OMIM:194380] synonym: "Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/Or perinatal edema" RELATED [OMIM:194380] synonym: "DEHYDRATED hereditary stomatocytosis 1 with or without pseudohyperkalemia and/OR perinatal oedema" RELATED OMO:0003005 [] synonym: "Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/Or perinatal oedema" RELATED OMO:0003005 [] synonym: "Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema" RELATED [GARD:0010676] synonym: "Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal oedema" RELATED OMO:0003005 [] synonym: "DEHYDRATED hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema" RELATED [OMIM:194380] synonym: "dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema" EXACT [MONDO:Lexical, OMIM:194380] synonym: "DEHYDRATED hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal oedema" RELATED OMO:0003005 [] synonym: "Desiccytosis, hereditary" RELATED [OMIM:194380] synonym: "DHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:194380] synonym: "DHS1" RELATED ABBREVIATION [OMIM:194380] synonym: "pseudohyperkalemia Edinburgh" RELATED [OMIM:194380] synonym: "pseudohyperkalemia, familial, 1, due to Red cell leak" RELATED [OMIM:194380] synonym: "xerocytosis, hereditary" RELATED [OMIM:194380] xref: DOID:0111576 {source="MONDO:equivalentTo"} xref: OMIM:194380 {source="MONDO:equivalentTo"} is_a: MONDO:0017910 {source="DC-OMIM:194380"} ! dehydrated hereditary stomatocytosis property_value: exactMatch DOID:0111576 property_value: exactMatch https://omim.org/entry/194380 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10676/dehydrated-hereditary-stomatocytosis-pseudohyperkalemia-and-perinatal-edema xsd:anyURI {source="GARD:0010676"} [Term] id: MONDO:0008691 name: zinc, elevated plasma synonym: "albumin binding of zinc, elevated" RELATED [OMIM:194470] synonym: "hyperzincemia and hypercalprotectinemia" RELATED [OMIM:194470] synonym: "hyperzincemia, familial Dysalbuminemic" RELATED [OMIM:194470] synonym: "zinc, elevated plasma" EXACT [OMIM:194470] xref: OMIM:194470 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIM:194470/inferred"} ! genetic disorder property_value: exactMatch https://omim.org/entry/194470 [Term] id: MONDO:0008692 name: abetalipoproteinemia def: "Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations." [Orphanet:14] subset: ordo_disease {source="Orphanet:14"} synonym: "abetalipoproteinemia" EXACT [MONDO:Lexical, OMIM:200100] synonym: "abetalipoproteinemia neuropathy" RELATED [GARD:0000005] synonym: "ABL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:200100] synonym: "acanthocytosis" RELATED [OMIM:200100] synonym: "apolipoprotein B deficiency" RELATED [GARD:0000005] synonym: "Bassen Kornzweig syndrome" RELATED [GARD:0000005] synonym: "Bassen-Kornzweig disease" EXACT [Orphanet:14] synonym: "Bassen-Kornzweig syndrome" RELATED [OMIM:200100] synonym: "Betalipoprotein deficiency disease" RELATED [GARD:0000005] synonym: "congenital betalipoprotein deficiency syndrome" RELATED [GARD:0000005] synonym: "familial hypobetalipoproteinemia" EXACT [DOID:1386] synonym: "homozygous familial hypobetalipoproteinemia" EXACT [Orphanet:14] synonym: "microsomal triglyceride transfer Protein deficiency" RELATED [OMIM:200100] synonym: "microsomal triglyceride transfer protein deficiency disease" EXACT [DOID:1386] synonym: "MTP deficiency" RELATED [OMIM:200100] xref: DOID:1386 {source="MONDO:equivalentTo"} xref: MESH:D000012 {source="DOID:1386", source="Orphanet:14", source="MONDO:equivalentTo", source="Orphanet:14/e"} xref: NCIT:C84525 {source="DOID:1386", source="MONDO:equivalentTo"} xref: OMIM:200100 {source="DOID:1386", source="Orphanet:14", source="MONDO:equivalentTo", source="Orphanet:14/e"} xref: Orphanet:14 {source="MONDO:equivalentTo", source="OMIM:200100"} xref: SCTID:190787008 {source="DOID:1386", source="MONDO:equivalentTo"} xref: UMLS:C0000744 {source="DOID:1386", source="NCIT:C84525", source="Orphanet:14", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:200100", source="Orphanet:14/e"} is_a: MONDO:0003689 ! familial hemolytic anemia is_a: MONDO:0015180 {source="Orphanet:14"} ! intestinal disease due to fat malabsorption is_a: MONDO:0017774 {source="MESH:D000012", source="Orphanet:14"} ! hypobetalipoproteinemia is_a: MONDO:0020044 {source="Orphanet:14"} ! autosomal recessive metabolic cerebellar ataxia is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy property_value: exactMatch DOID:1386 property_value: exactMatch http://identifiers.org/mesh/D000012 property_value: exactMatch http://identifiers.org/snomedct/190787008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0000744 property_value: exactMatch https://omim.org/entry/200100 property_value: exactMatch NCIT:C84525 property_value: exactMatch Orphanet:14 [Term] id: MONDO:0008693 name: ablepharon macrostomia syndrome def: "Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome." [Orphanet:920] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:920"} synonym: "ablepharon-macrostomia syndrome" RELATED [MONDO:Lexical, OMIM:200110] synonym: "AMS" RELATED ABBREVIATION [GARD:0000003, MONDO:Lexical, OMIM:200110] synonym: "congenital ablepharon, absent eyelashes/eyebrows, macrostomia, auricular, nasal, genital and other systemic anomalies" RELATED [GARD:0000003] xref: DOID:0060550 {source="MONDO:equivalentTo"} xref: MESH:C535557 {source="DOID:0060550", source="Orphanet:920", source="MONDO:equivalentTo", source="Orphanet:920/e"} xref: OMIM:200110 {source="DOID:0060550", source="Orphanet:920", source="GARD:0000003", source="MONDO:equivalentTo", source="Orphanet:920/e"} xref: Orphanet:920 {source="DOID:0060550", source="OMIM:200110", source="GARD:0000003", source="MONDO:equivalentTo"} xref: SCTID:718575002 {source="MONDO:equivalentTo"} xref: UMLS:C1860224 {source="DOID:0060550", source="Orphanet:920", source="OMIM:200110", source="GARD:0000003", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:920/e"} is_a: MONDO:0015160 {source="Orphanet:920"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0020154 {source="Orphanet:920"} ! microblepharon-ablephara syndrome property_value: exactMatch DOID:0060550 property_value: exactMatch http://identifiers.org/mesh/C535557 property_value: exactMatch http://identifiers.org/snomedct/718575002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860224 property_value: exactMatch https://omim.org/entry/200110 property_value: exactMatch Orphanet:920 [Term] id: MONDO:0008694 name: pseudoprogeria syndrome def: "Pseudoprogeria is characterized by intellectual deficit associated with progressive spastic quadriplegia, microcephaly, glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers." [Orphanet:2985] subset: gard_rare {source="GARD:0000415"} subset: ordo_malformation_syndrome {source="Orphanet:2985"} synonym: "absent eyebrows and eyelashes with intellectual disability" RELATED [OMIM:200130] synonym: "absent eyebrows and eyelashes with mental retardation" RELATED DEPRECATED [OMIM:200130] synonym: "absent eyebrows and eyelashes-intellectual disability syndrome" EXACT [Orphanet:2985] synonym: "eyebrows and eyelashes absence-intellectual disability syndrome" EXACT [Orphanet:2985] synonym: "Hal-Berg-Rudolph syndrome" EXACT [Orphanet:2985] synonym: "intellectual disability, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose" RELATED [GARD:0000415] synonym: "mental retardation, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose" RELATED DEPRECATED [GARD:0000415] synonym: "pseudoprogeria syndrome" EXACT [OMIM:200130] xref: MESH:C563111 {source="MONDO:equivalentTo"} xref: OMIM:200130 {source="MONDO:equivalentTo", source="Orphanet:2985", source="Orphanet:2985/e"} xref: Orphanet:2985 {source="OMIM:200130", source="MONDO:equivalentTo"} xref: SCTID:733086003 {source="MONDO:equivalentTo"} xref: UMLS:C0796125 {source="OMIM:200130", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2985"} is_a: MONDO:0015159 {source="Orphanet:2985"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C563111 property_value: exactMatch http://identifiers.org/snomedct/733086003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796125 property_value: exactMatch https://omim.org/entry/200130 property_value: exactMatch Orphanet:2985 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2985"} property_value: excluded_subClassOf MONDO:0015333 {source="Orphanet:2985"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1567 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/415/pseudoprogeria-syndrome xsd:anyURI {source="GARD:0000415"} [Term] id: MONDO:0008695 name: chorea-acanthocytosis def: "Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." [Orphanet:2388] subset: ordo_disease {source="Orphanet:2388"} synonym: "acanthocytosis with neurologic disorder" RELATED [OMIM:200150] synonym: "Chac" EXACT [MONDO:Lexical, OMIM:200150, Orphanet:2388] synonym: "chorea acanthocytosis" RELATED [GARD:0003956] synonym: "chorea-acanthocytosis" EXACT [OMIM:200150, Orphanet:2388] synonym: "choreaacanthocytosis" RELATED [DOID:0050766] synonym: "choreo-acanthocytosis" EXACT [DOID:0050766] synonym: "CHOREOACANTHOCYTOSIS" RELATED ABBREVIATION [OMIM:200150] synonym: "choreoacanthocytosis" EXACT [DOID:0050766, MONDO:Lexical, OMIM:200150] synonym: "Levine-Critchley syndrome" EXACT [DOID:0050766, OMIM:200150, Orphanet:2388] synonym: "neuroacanthocytosis" RELATED [OMIM:200150] xref: DOID:0050766 {source="MONDO:equivalentTo"} xref: ICD9:333.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:200150 {source="Orphanet:2388", source="DOID:0050766", source="MONDO:equivalentTo", source="Orphanet:2388/e"} xref: Orphanet:2388 {source="OMIM:200150", source="DOID:0050766", source="MONDO:equivalentTo"} xref: SCTID:66881004 {source="MONDO:equivalentTo"} is_a: MONDO:0016987 {source="DOID:0050766", source="Orphanet:2388"} ! neuroacanthocytosis is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy is_a: MONDO:0100118 ! hereditary skin disorder property_value: exactMatch DOID:0050766 property_value: exactMatch http://identifiers.org/snomedct/66881004 property_value: exactMatch https://omim.org/entry/200150 property_value: exactMatch Orphanet:2388 [Term] id: MONDO:0008696 name: acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome def: "This syndrome is characterized by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy." [Orphanet:90301] subset: ordo_disease {source="Orphanet:90301"} synonym: "acanthosis nigricans muscle cramps acral enlargement" RELATED [GARD:0000453] synonym: "acanthosis nigricans with muscle cramps and acral enlargement" RELATED [OMIM:200170] synonym: "familial insulin resistance with acanthosis nigricans, acral hypertrophy and muscle cramps" RELATED [GARD:0000453] xref: MESH:C536000 {source="MONDO:equivalentTo"} xref: OMIM:200170 {source="MONDO:equivalentTo", source="Orphanet:90301", source="Orphanet:90301/e"} xref: Orphanet:90301 {source="MONDO:equivalentTo", source="OMIM:200170"} xref: UMLS:C1860215 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:200170"} is_a: EFO:1000660 {source="MESH:C536000"} ! acanthosis nigricans is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease property_value: exactMatch http://identifiers.org/mesh/C536000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860215 property_value: exactMatch https://omim.org/entry/200170 property_value: exactMatch Orphanet:90301 property_value: excluded_subClassOf MONDO:0005015 {source="MONDO:0015885-obsoleted"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5723 xsd:anyURI [Term] id: MONDO:0008699 name: achalasia microcephaly syndrome def: "Achalasia-microcephaly is an extremely rare genetic syndrome, reported in a few families to date, characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. An autosomal recessive inheritance has been proposed." [Orphanet:929] subset: gard_rare {source="GARD:0000456"} subset: ordo_malformation_syndrome {source="Orphanet:929"} synonym: "achalasia microcephaly" EXACT [DOID:0050796] synonym: "achalasia-microcephaly syndrome" EXACT [DOID:0050796, OMIM:200450] xref: DOID:0050796 {source="MONDO:equivalentTo"} xref: MESH:C536010 {source="Orphanet:929/e", source="DOID:0050796", source="MONDO:equivalentTo", source="Orphanet:929"} xref: OMIM:200450 {source="Orphanet:929/e", source="DOID:0050796", source="MONDO:equivalentTo", source="Orphanet:929"} xref: Orphanet:929 {source="OMIM:200450", source="MONDO:equivalentTo"} xref: SCTID:718573009 {source="MONDO:equivalentTo"} xref: UMLS:C1860212 {source="Orphanet:929/e", source="DOID:0050796", source="OMIM:200450", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:929"} is_a: EFO:1000017 {source="DOID:0050796", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015208 {source="Orphanet:929"} ! syndromic esophageal malformation property_value: exactMatch DOID:0050796 property_value: exactMatch http://identifiers.org/mesh/C536010 property_value: exactMatch http://identifiers.org/snomedct/718573009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860212 property_value: exactMatch https://omim.org/entry/200450 property_value: exactMatch Orphanet:929 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/456/achalasia-microcephaly-syndrome xsd:anyURI {source="GARD:0000456"} [Term] id: MONDO:0008700 name: acheiropody def: "Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance." [Orphanet:931] subset: ordo_morphological_anomaly {source="Orphanet:931"} synonym: "acheiropodia" EXACT [DOID:0050603, OMIM:200500] synonym: "acheiropody" EXACT [MONDO:Lexical, OMIM:200500, Orphanet:931] synonym: "acheiropody, Brazilian type" RELATED [OMIM:200500] synonym: "ACHP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:200500] synonym: "horn-Kolb syndrome" EXACT [DOID:0050603] xref: DOID:0050603 {source="MONDO:equivalentTo"} xref: MESH:C536014 {source="Orphanet:931", source="MONDO:equivalentTo", source="Orphanet:931/e"} xref: OMIM:200500 {source="Orphanet:931", source="MONDO:equivalentTo", source="DOID:0050603", source="Orphanet:931/e"} xref: Orphanet:931 {source="MONDO:equivalentTo", source="OMIM:200500"} xref: SCTID:177504007 {source="MONDO:equivalentTo"} is_a: EFO:0005571 {source="DOID:0050603", source="Orphanet:931"} ! osteochondrodysplasia is_a: MONDO:0017421 {source="Orphanet:931"} ! non-syndromic terminal limb defects property_value: exactMatch DOID:0050603 property_value: exactMatch http://identifiers.org/mesh/C536014 property_value: exactMatch http://identifiers.org/snomedct/177504007 property_value: exactMatch https://omim.org/entry/200500 property_value: exactMatch Orphanet:931 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0008701 name: achondrogenesis type IA def: "Achondrogenesis type 1A (ACG1A), a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage." [Orphanet:93299] subset: ordo_clinical_subtype {source="Orphanet:93299"} synonym: "ACG1A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:200600] synonym: "achondrogenesis Houston-Harris type" EXACT [DOID:0080054] synonym: "achondrogenesis type 1A" RELATED [Orphanet:93299] synonym: "achondrogenesis, Houston-Harris type" EXACT [OMIM:200600, Orphanet:93299] synonym: "achondrogenesis, type 1A" RELATED [OMIM:200600] synonym: "achondrogenesis, type IA" RELATED [MONDO:Lexical, OMIM:200600] synonym: "Houston-Harris achondrogenesis" RELATED [GARD:0000459] xref: DOID:0080054 {source="MONDO:equivalentTo"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536015 {source="Orphanet:93299", source="MONDO:equivalentTo", source="Orphanet:93299/e"} xref: OMIM:200600 {source="DOID:0080054", source="Orphanet:93299", source="MONDO:equivalentTo", source="Orphanet:93299/e"} xref: Orphanet:93299 {source="MONDO:equivalentTo", source="OMIM:200600"} xref: SCTID:42725006 {source="MONDO:equivalentTo"} is_a: MONDO:0019648 {source="DC-OMIM:200600", source="DOID:0080054", source="OMIM:200600", source="Orphanet:93299"} ! achondrogenesis is_a: MONDO:0800080 {source="PMID:31633310"} ! severe spondylodysplastic dysplasia property_value: exactMatch DOID:0080054 property_value: exactMatch http://identifiers.org/mesh/C536015 property_value: exactMatch http://identifiers.org/snomedct/42725006 property_value: exactMatch https://omim.org/entry/200600 property_value: exactMatch Orphanet:93299 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0008702 name: achondrogenesis type II def: "Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage." [Orphanet:93296] subset: ordo_clinical_subtype {source="Orphanet:93296"} synonym: "ACG2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:200610] synonym: "achondrogenesis type 2" RELATED [Orphanet:93296] synonym: "achondrogenesis type II" EXACT [] synonym: "achondrogenesis, Langer-Saldino type" EXACT [OMIM:200610, Orphanet:93296] synonym: "achondrogenesis, type 2" RELATED [OMIM:200610] synonym: "achondrogenesis, type IB" RELATED [OMIM:200610] synonym: "achondrogenesis, type IB, formerly" RELATED [OMIM:200610] synonym: "achondrogenesis, type II" RELATED [MONDO:Lexical, OMIM:200610] synonym: "achondrogenesis, type II or hypochondrogenesis" EXACT [OMIM:200610, OMIM:genemap2] synonym: "chondrogenesis imperfecta" RELATED [OMIM:200610] synonym: "hypochondrogenesis" RELATED [OMIM:200610] xref: DOID:0080056 {source="MONDO:equivalentTo"} xref: MESH:C536017 {source="Orphanet:93296", source="MONDO:equivalentTo", source="Orphanet:93296/e"} xref: OMIM:200610 {source="Orphanet:93296", source="DOID:0080056", source="MONDO:equivalentTo", source="Orphanet:93296/e"} xref: Orphanet:93296 {source="MONDO:equivalentTo", source="OMIM:200610"} xref: Orphanet:93297 {source="OMIM:200610", source="MONDO:directSiblingOf"} is_a: MONDO:0019648 {source="DC-OMIM:200610", source="DOID:0080056", source="OMIM:200610", source="Orphanet:93296"} ! achondrogenesis is_a: MONDO:0022800 {source="Orphanet:93296", source="PMID:31633310"} ! type 2 collagenopathy property_value: exactMatch DOID:0080056 property_value: exactMatch http://identifiers.org/mesh/C536017 property_value: exactMatch https://omim.org/entry/200610 property_value: exactMatch Orphanet:93296 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0008703 name: acromesomelic dysplasia 2A def: "An autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal." [https://orcid.org/0000-0001-5208-3432, Orphanet:2098] subset: ordo_malformation_syndrome {source="Orphanet:2098"} synonym: "achondrogenesis type II (formerly)" RELATED [GARD:0001300] synonym: "achondrogenesis, Brazilian" RELATED [OMIM:200700] synonym: "achondrogenesis, type II" RELATED [OMIM:200700] synonym: "achondrogenesis, type II, formerly" RELATED [OMIM:200700] synonym: "acromesomelic dysplasia 2A" EXACT [OMIM:200700, OMIM:genemap2] synonym: "acromesomelic dysplasia, Grebe type" EXACT [OMIM:200700] synonym: "AMDG" RELATED ABBREVIATION [GARD:0001300] synonym: "Brazilian achondrogenesis" RELATED [GARD:0001300] synonym: "chondrodysplasia, Grebe type" EXACT [OMIM:200700, Orphanet:2098] synonym: "GREBE chondrodysplasia" EXACT [DOID:0080052] synonym: "Grebe chondrodysplasia" EXACT [OMIM:200700] synonym: "Grebe dysplasia" EXACT [OMIM:200700] synonym: "Grebe syndrome" RELATED [GARD:0001300] synonym: "hypochondrogenesis" RELATED [NCIT:C3816] synonym: "Langer-Saldino achondrogenesis" EXACT [NCIT:C3816] synonym: "type II achondrogenesis" EXACT [NCIT:C3816] xref: DOID:0080052 {source="MONDO:equivalentTo"} xref: NCIT:C3816 {source="MONDO:equivalentTo"} xref: OMIM:200700 {source="DOID:0080052", source="Orphanet:2098/e", source="MONDO:equivalentTo", source="Orphanet:2098"} xref: Orphanet:2098 {source="MONDO:equivalentTo", source="OMIM:200700"} xref: UMLS:C0265260 {source="Orphanet:2098/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:200700", source="Orphanet:2098"} is_a: MONDO:0019648 {source="NCIT:C3816"} ! achondrogenesis is_a: MONDO:0019696 {source="DOID:0080052", source="Orphanet:2098", source="PMID:31633310"} ! acromesomelic dysplasia property_value: exactMatch DOID:0080052 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265260 property_value: exactMatch https://omim.org/entry/200700 property_value: exactMatch NCIT:C3816 property_value: exactMatch Orphanet:2098 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0008704 name: short-limb skeletal dysplasia with severe combined immunodeficiency def: "Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity." [Orphanet:935] subset: gard_rare subset: ordo_disease {source="Orphanet:935"} synonym: "achondroplasia and severe combined immunodeficiency" RELATED [GARD:0002988] synonym: "achondroplasia and Swiss type agammaglobulinemia" RELATED [GARD:0000463] synonym: "achondroplasia and Swiss-type agammaglobulinemia" RELATED [GARD:0000463] synonym: "achondroplasia so-called and severe combined immunodeficiency" RELATED [GARD:0002988] synonym: "achondroplasia, so-called, and severe combined immunodeficiency" RELATED [OMIM:200900] synonym: "achondroplasia-SCID syndrome" EXACT [Orphanet:935] synonym: "achondroplasia-severe combined immunodeficiency syndrome" EXACT [Orphanet:935] synonym: "achondroplasia-Swiss type agammaglobulinemia syndrome" EXACT [Orphanet:935] synonym: "agammaglobulinemia and achondroplasia" RELATED [GARD:0000463] synonym: "immunodeficiency-short limb dwarfism syndrome" EXACT [Orphanet:935] synonym: "short limb skeletal dysplasia with SCID" EXACT [Orphanet:935] synonym: "short-limb skeletal dysplasia with severe combined immunodeficiency" EXACT [GARD:0002988, OMIM:200900] synonym: "SLSD with SCID" RELATED [GARD:0002988] synonym: "Slsd with SCID" RELATED [OMIM:200900] xref: MESH:C565984 {source="MONDO:equivalentTo"} xref: OMIM:200900 {source="GARD:0000463", source="MONDO:equivalentTo", source="Orphanet:935", source="GARD:0002988", source="Orphanet:935/e"} xref: Orphanet:935 {source="MONDO:equivalentTo", source="GARD:0002988", source="OMIM:200900"} xref: UMLS:C1860168 {source="MONDO:equivalentTo", source="Orphanet:935", source="MONDO:ncbi_mim2gene_medline", source="GARD:0002988", source="OMIM:200900"} is_a: MONDO:0017855 {source="Orphanet:935"} ! T-B- severe combined immunodeficiency property_value: exactMatch http://identifiers.org/mesh/C565984 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860168 property_value: exactMatch https://omim.org/entry/200900 property_value: exactMatch Orphanet:935 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2988/achondroplasia-and-severe-combined-immunodeficiency xsd:anyURI {source="GARD:0002988"} [Term] id: MONDO:0008705 name: lysosomal acid phosphatase deficiency subset: ordo_disease {source="Orphanet:35121"} synonym: "acid phosphatase deficiency" EXACT [OMIM:200950] synonym: "lysosomal acid phosphatase deficiency" EXACT [Orphanet:35121] xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="Orphanet:35121/inclusion", source="Orphanet:35121/ntbt", source="Orphanet:35121"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562645 {source="MONDO:equivalentTo"} xref: OMIM:200950 {source="Orphanet:35121/e", source="MONDO:equivalentTo", source="Orphanet:35121"} xref: Orphanet:35121 {source="MONDO:equivalentTo", source="OMIM:200950"} xref: SCTID:57863006 {source="MONDO:equivalentTo"} xref: UMLS:C0268410 {source="Orphanet:35121/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:200950", source="Orphanet:35121"} is_a: MONDO:0002561 {source="Orphanet:35121"} ! lysosomal storage disease property_value: exactMatch http://identifiers.org/mesh/C562645 property_value: exactMatch http://identifiers.org/snomedct/57863006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268410 property_value: exactMatch https://omim.org/entry/200950 property_value: exactMatch Orphanet:35121 [Term] id: MONDO:0008706 name: Ackerman syndrome def: "Ackerman syndrome is characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers." [Orphanet:2561] subset: gard_rare {source="GARD:0000469"} subset: ordo_malformation_syndrome {source="Orphanet:2561"} synonym: "Ackerman fused molar rooth syndrome" EXACT [Orphanet:2561] synonym: "Ackerman syndrome" EXACT [OMIM:200970] synonym: "glaucoma, juvenile, with unusual upper lip and dental roots" RELATED [OMIM:200970] synonym: "juvenile glaucoma with unusual upper lip and dental roots" RELATED [GARD:0000469] synonym: "molar roots, pyramidal, with juvenile glaucoma and unusual upper lip" RELATED [OMIM:200970] synonym: "pyramidal molar-glaucoma-upper abnormal lip syndrome" EXACT [Orphanet:2561] synonym: "pyramidal molars, glaucoma, abnormal upper lip" RELATED [GARD:0000469] xref: MESH:C538170 {source="Orphanet:2561", source="MONDO:equivalentTo", source="Orphanet:2561/e"} xref: OMIM:200970 {source="Orphanet:2561", source="MONDO:equivalentTo", source="Orphanet:2561/e"} xref: Orphanet:2561 {source="MONDO:equivalentTo", source="OMIM:200970"} xref: SCTID:722280000 {source="MONDO:equivalentTo"} xref: UMLS:C1860167 {source="Orphanet:2561", source="MONDO:equivalentTo", source="OMIM:200970", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2561/e"} is_a: MONDO:0015161 {source="Orphanet:2561"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0019287 {source="Orphanet:2561"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C538170 property_value: exactMatch http://identifiers.org/snomedct/722280000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860167 property_value: exactMatch https://omim.org/entry/200970 property_value: exactMatch Orphanet:2561 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/469/ackerman-syndrome xsd:anyURI {source="GARD:0000469"} [Term] id: MONDO:0008707 name: acro-renal-mandibular syndrome def: "Acro-renal-mandibular syndrome is a very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested." [Orphanet:958] subset: ordo_malformation_syndrome {source="Orphanet:958"} synonym: "acro-renal-uterine-mandibular syndrome" RELATED [GARD:0000480] synonym: "acrorenal mandibular syndrome" RELATED [GARD:0000480] synonym: "acrorenal-mandibular syndrome" RELATED [OMIM:200980] synonym: "acrorenal-uterine-mandibular syndrome" RELATED [OMIM:200980] synonym: "split hand split foot mandibular hypoplasia" RELATED [GARD:0000480] synonym: "split hand/split foot-mandibular hypoplasia syndrome" EXACT [Orphanet:958] synonym: "split-hand and split-foot with mandibular hypoplasia" RELATED [OMIM:200980] xref: MESH:C535665 {source="MONDO:equivalentTo", source="Orphanet:958", source="Orphanet:958/e"} xref: OMIM:200980 {source="MONDO:equivalentTo", source="Orphanet:958", source="Orphanet:958/e"} xref: Orphanet:958 {source="MONDO:equivalentTo", source="OMIM:200980"} xref: SCTID:720414005 {source="MONDO:equivalentTo"} xref: UMLS:C1860166 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:200980", source="Orphanet:958", source="Orphanet:958/e"} is_a: MONDO:0015161 {source="Orphanet:958"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C535665 property_value: exactMatch http://identifiers.org/snomedct/720414005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860166 property_value: exactMatch https://omim.org/entry/200980 property_value: exactMatch Orphanet:958 [Term] id: MONDO:0008708 name: acrocallosal syndrome def: "Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." [Orphanet:36] subset: ordo_malformation_syndrome {source="Orphanet:36"} synonym: "absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly" RELATED [GARD:0005721] synonym: "ACLS" EXACT ABBREVIATION [DOID:9250, MONDO:Lexical, OMIM:200990] synonym: "acrocallosal syndrome" EXACT [MONDO:Lexical, OMIM:200990] synonym: "acrocallosal syndrome, Schinzel type" RELATED [GARD:0005721] synonym: "ACS" EXACT ABBREVIATION [Orphanet:36] synonym: "hallux Duplication, postaxial polydactyly, and absence of corpus callosum" RELATED [OMIM:200990] synonym: "Joubert syndrome 12" RELATED [OMIM:200990] synonym: "Joubert syndrome 12/15, digenic" RELATED [OMIM:200990] synonym: "Schinzel acrocallosal syndrome" EXACT [DOID:9250, OMIM:200990] synonym: "Schinzel syndrome 1" EXACT [DOID:9250, MTH:NOCODE] xref: DOID:9250 {source="MONDO:equivalentTo"} xref: MESH:D055673 {source="DOID:9250", source="MONDO:equivalentTo"} xref: NCIT:C84531 {source="DOID:9250", source="MONDO:equivalentTo"} xref: OMIM:200990 {source="Orphanet:36", source="DOID:9250", source="MONDO:equivalentTo", source="Orphanet:36/e"} xref: Orphanet:36 {source="OMIM:200990", source="MONDO:equivalentTo"} xref: SCTID:715951007 {source="MONDO:equivalentTo"} xref: UMLS:C0796147 {source="OMIM:200990", source="Orphanet:36", source="DOID:9250", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:36/e", source="NCIT:C84531"} is_a: MONDO:0002254 {source="DOID:9250", source="MONDO:Redundant", source="NCIT:C84531"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:36"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism property_value: exactMatch DOID:9250 property_value: exactMatch http://identifiers.org/mesh/D055673 property_value: exactMatch http://identifiers.org/snomedct/715951007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796147 property_value: exactMatch https://omim.org/entry/200990 property_value: exactMatch NCIT:C84531 property_value: exactMatch Orphanet:36 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:36"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0008709 name: acrocephalopolydactyly def: "Acrocephalopolydactyly, also known as Elejalde syndrome, is an extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date." [Orphanet:221054] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:221054"} synonym: "acrocephalopolydactylous dysplasia" EXACT [OMIM:200995, Orphanet:221054] synonym: "Elejalde syndrome" EXACT [OMIM:200995, Orphanet:221054] xref: MESH:C573722 {source="MONDO:equivalentTo"} xref: OMIM:200995 {source="Orphanet:221054", source="MONDO:equivalentTo", source="Orphanet:221054/e"} xref: Orphanet:221054 {source="MONDO:equivalentTo", source="OMIM:200995"} xref: SCTID:720417003 {source="MONDO:equivalentTo"} xref: UMLS:C1860157 {source="Orphanet:221054", source="MONDO:relatedTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C3495588 {source="Orphanet:221054", source="MONDO:equivalentTo", source="OMIM:200995"} xref: UMLS:CN201238 {source="MONDO:equivalentTo"} is_a: MONDO:0015338 {source="Orphanet:221054"} ! syndromic craniosynostosis property_value: exactMatch http://identifiers.org/mesh/C573722 property_value: exactMatch http://identifiers.org/snomedct/720417003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3495588 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201238 property_value: exactMatch https://omim.org/entry/200995 property_value: exactMatch Orphanet:221054 [Term] id: MONDO:0008710 name: RAB23-related Carpenter syndrome def: "Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene." [MONDO:patterns/disease_series_by_gene] synonym: "ACPS 2" BROAD [OMIM:201000] synonym: "acrocephalopolysyndactyly type 2" BROAD [OMIM:201000] synonym: "Carpenter syndrome" BROAD [OMIM:201000, OMIM:genemap2] synonym: "CARPENTER syndrome 1" RELATED [OMIM:201000] synonym: "Carpenter syndrome 1" EXACT [MONDO:Lexical, OMIM:201000] synonym: "Carpenter syndrome caused by mutation in RAB23" EXACT [MONDO:design_pattern] synonym: "Carpenter syndrome type 1" EXACT [MONDORULE:1, OMIM:201000] synonym: "CRPT1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:201000] synonym: "RAB23 Carpenter syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "RAB23-related Carpenter syndrome" EXACT [] xref: OMIM:201000 {source="MONDO:equivalentTo"} xref: SCTID:205813009 {source="MONDO:equivalentTo"} is_a: MONDO:0019012 {source="DC-OMIM:201000", source="MONDO:Redundant", source="OMIM:201000"} ! Carpenter syndrome property_value: exactMatch http://identifiers.org/snomedct/205813009 property_value: exactMatch https://omim.org/entry/201000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0008711 name: Goodman syndrome def: "Goodman syndrome is an extremely rare genetic disorder characterized by marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome." [Orphanet:65798] subset: gard_rare {source="GARD:0002549"} subset: ordo_malformation_syndrome {source="Orphanet:65798"} synonym: "ACPS 4" EXACT [OMIM:201020] synonym: "ACPS4" EXACT ABBREVIATION [Orphanet:65798] synonym: "acrocephalopolysyndactyly type 4" EXACT [Orphanet:65798] synonym: "acrocephalopolysyndactyly type IV" RELATED [OMIM:201020] synonym: "Goodman camptodactyly" RELATED [GARD:0002549] synonym: "Goodman syndrome" EXACT [OMIM:201020] xref: MESH:C537287 {source="MONDO:equivalentTo"} xref: OMIM:201020 {source="Orphanet:65798", source="MONDO:equivalentTo", source="Orphanet:65798/e"} xref: Orphanet:65798 {source="OMIM:201020", source="MONDO:equivalentTo"} xref: SCTID:720600004 {source="MONDO:equivalentTo"} is_a: MONDO:0000078 {source="DC-OMIM:201020"} ! acrocephalopolysyndactyly is_a: MONDO:0015160 {source="Orphanet:65798"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome relationship: disease_shares_features_of MONDO:0019012 ! Carpenter syndrome property_value: exactMatch http://identifiers.org/mesh/C537287 property_value: exactMatch http://identifiers.org/snomedct/720600004 property_value: exactMatch https://omim.org/entry/201020 property_value: exactMatch Orphanet:65798 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2549/goodman-syndrome xsd:anyURI {source="GARD:0002549"} [Term] id: MONDO:0008712 name: acrocraniofacial dysostosis def: "Acrocraniofacial dysostosis is a very rare form of acrofacial dyosotosis, reported in two sisters to date, characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988." [Orphanet:949] subset: ordo_malformation_syndrome {source="Orphanet:949"} synonym: "acrocraniofacial dysostosis" EXACT [OMIM:201050] synonym: "Kaplan Plauchu Fitch syndrome" RELATED [GARD:0003075] synonym: "Kaplan-Plauchu-Fitch syndrome" EXACT [Orphanet:949] xref: MESH:C536892 {source="MONDO:equivalentTo"} xref: OMIM:201050 {source="Orphanet:949/e", source="MONDO:equivalentTo", source="Orphanet:949"} xref: Orphanet:949 {source="MONDO:equivalentTo", source="OMIM:201050"} xref: SCTID:720418008 {source="MONDO:equivalentTo"} xref: UMLS:C1860145 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:949", source="OMIM:201050"} is_a: MONDO:0015161 {source="Orphanet:949"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0018237 {source="Orphanet:949"} ! acrofacial dysostosis property_value: exactMatch http://identifiers.org/mesh/C536892 property_value: exactMatch http://identifiers.org/snomedct/720418008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860145 property_value: exactMatch https://omim.org/entry/201050 property_value: exactMatch Orphanet:949 [Term] id: MONDO:0008713 name: acrodermatitis enteropathica alt_id: MONDO:0023070 def: "Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure." [Orphanet:37] subset: gard_rare {source="GARD:0005723"} subset: ordo_disease {source="Orphanet:37"} synonym: "acrodermatitis enteropathica" EXACT [] synonym: "acrodermatitis enteropathica zinc deficiency type" RELATED [GARD:0005723] synonym: "acrodermatitis enteropathica, zinc deficiency type" EXACT [Orphanet:37] synonym: "acrodermatitis enteropathica, zinc-deficiency type" RELATED [MONDO:Lexical, OMIM:201100] synonym: "ae" RELATED [GARD:0005723] synonym: "AEZ" EXACT ABBREVIATION [MONDO:Lexical, OMIM:201100, Orphanet:37] synonym: "Brandt syndrome" RELATED [GARD:0005723] synonym: "Danbolt-Cross syndrome" RELATED [GARD:0005723] synonym: "enteropathica" RELATED [GARD:0006343] synonym: "inherited zinc deficiency" EXACT [Orphanet:37] xref: DOID:0050605 {source="MONDO:equivalentTo"} xref: ICD9:686.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538178 {source="MONDO:equivalentTo"} xref: NCIT:C128802 {source="MONDO:equivalentTo"} xref: OMIM:201100 {source="MONDO:equivalentTo", source="Orphanet:37", source="DOID:0050605", source="Orphanet:37/e"} xref: Orphanet:37 {source="OMIM:201100", source="MONDO:equivalentTo"} xref: SCTID:37702000 {source="MONDO:equivalentTo"} xref: UMLS:C0221036 {source="OMIM:201100", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:37", source="NCIT:C128802"} is_a: MONDO:0004689 {source="DOID:0050605"} ! inborn metal metabolism disorder is_a: MONDO:0015180 {source="Orphanet:37"} ! intestinal disease due to fat malabsorption is_a: MONDO:0017764 {source="Orphanet:37"} ! disorder of zinc metabolism property_value: exactMatch DOID:0050605 property_value: exactMatch http://identifiers.org/mesh/C538178 property_value: exactMatch http://identifiers.org/snomedct/37702000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221036 property_value: exactMatch https://omim.org/entry/201100 property_value: exactMatch NCIT:C128802 property_value: exactMatch Orphanet:37 property_value: excluded_subClassOf MONDO:0005020 {source="MONDO:Redundant", source="Orphanet:37", source="Orphanet:37/inferred"} property_value: excluded_subClassOf MONDO:0005093 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5682 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5723/acrodermatitis-enteropathica xsd:anyURI {source="GARD:0005723"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6343/enteropathica xsd:anyURI {source="GARD:0006343"} [Term] id: MONDO:0008714 name: acrofacial dysostosis Rodriguez type def: "Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth." [https://rarediseases.info.nih.gov/diseases/496/acrofacial-dysostosis-rodriguez-type] subset: gard_rare {source="GARD:0000496"} subset: ordo_malformation_syndrome {source="Orphanet:1788"} synonym: "acrofacial dysostosis syndrome of Rodriguez" RELATED [OMIM:201170] synonym: "acrofacial dysostosis, Rodríguez type" RELATED [Orphanet:1788] synonym: "acrofacial dysostosis, syndrome of Rodriguez" EXACT [DOID:0060383] synonym: "Rodriguez lethal acrofacial dysostosis syndrome" RELATED [OMIM:201170] xref: DOID:0060383 {source="MONDO:equivalentTo"} xref: MESH:C538183 {source="MONDO:equivalentTo", source="Orphanet:1788", source="DOID:0060383", source="Orphanet:1788/e"} xref: OMIM:201170 {source="MONDO:equivalentTo", source="Orphanet:1788", source="DOID:0060383", source="Orphanet:1788/e"} xref: Orphanet:1788 {source="MONDO:equivalentTo", source="DOID:0060383", source="OMIM:201170"} xref: SCTID:720430002 {source="MONDO:equivalentTo"} xref: UMLS:C1860119 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1788", source="DOID:0060383", source="OMIM:201170", source="Orphanet:1788/e"} is_a: MONDO:0015159 {source="Orphanet:1788"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015334 {source="Orphanet:1788"} ! branchial arch or oral-acral syndrome is_a: MONDO:0018237 {source="DC-OMIM:201170", source="DOID:0060383", source="Orphanet:1788"} ! acrofacial dysostosis is_a: MONDO:0800085 {source="PMID:31633310"} ! dysostosis with predominant craniofacial involvement property_value: exactMatch DOID:0060383 property_value: exactMatch http://identifiers.org/mesh/C538183 property_value: exactMatch http://identifiers.org/snomedct/720430002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860119 property_value: exactMatch https://omim.org/entry/201170 property_value: exactMatch Orphanet:1788 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1788"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/496/acrofacial-dysostosis-rodriguez-type xsd:anyURI {source="GARD:0000496"} [Term] id: MONDO:0008715 name: acrofrontofacionasal dysostosis def: "A congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies." [Orphanet:1784] subset: ordo_malformation_syndrome {source="Orphanet:1784"} synonym: "acro fronto facio nasal dysostosis" RELATED [GARD:0000484] synonym: "acrofrontofacionasal dysostosis 1" NARROW [OMIM:201180] synonym: "acrofrontofacionasal dysostosis syndrome" RELATED [GARD:0000484] synonym: "acrofrontofacionasal dysostosis type 1" NARROW [MONDORULE:1, OMIM:201180] synonym: "AFFN dysostosis" EXACT [DOID:0060226] synonym: "Affn dysostosis 1" NARROW [OMIM:201180] synonym: "cleft Lip/palate with frontonasal dysostosis and postaxial polysyndactyly" RELATED [OMIM:201180] synonym: "polysyndactyly, postaxial, frontonasal dysostosis and cleft lip/palate" RELATED [GARD:0000484] synonym: "polysyndactyly, postaxial, frontonasal dysostosis, and cleft Lip/palate" RELATED [OMIM:201180] synonym: "Richieri-Costa-Colletto syndrome" EXACT [DOID:0060226, Orphanet:1784] xref: DOID:0060226 {source="MONDO:equivalentTo"} xref: Orphanet:1784 {source="DOID:0060226", source="MONDO:equivalentTo", source="OMIM:201180"} xref: SCTID:720408003 {source="MONDO:equivalentTo"} xref: UMLS:C1860118 {source="Orphanet:1784", source="DOID:0060226", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1784/e", source="OMIM:201180"} is_a: MONDO:0018237 {source="Orphanet:1784"} ! acrofacial dysostosis property_value: exactMatch DOID:0060226 property_value: exactMatch http://identifiers.org/snomedct/720408003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860118 property_value: exactMatch Orphanet:1784 [Term] id: MONDO:0008716 name: acrogeria def: "A congenital skin condition characterized by premature aging, more especially in the form of unusually fragile, thin skin on the hands and feet. Its onset is in early childhood; it progresses over the next few years and then remains stable. A bruising tendency has been observed." [Wikipedia:Acrogeria] subset: ordo_malformation_syndrome {source="Orphanet:2500"} synonym: "acrogeria, Gottron type" EXACT [OMIM:201200, Orphanet:2500] synonym: "acrometageria" EXACT [OMIM:201200, Orphanet:2500] synonym: "familial acrogeria" RELATED [GARD:0006543] synonym: "Gottron syndrome" EXACT [Orphanet:2500] synonym: "Metageria" RELATED [OMIM:201200] xref: ICD9:259.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538187 {source="Orphanet:2500", source="MONDO:equivalentTo", source="Orphanet:2500/e"} xref: OMIM:201200 {source="Orphanet:2500", source="MONDO:equivalentTo", source="Orphanet:2500/e"} xref: Orphanet:2500 {source="MONDO:equivalentTo", source="OMIM:201200"} xref: SCTID:238872007 {source="MONDO:equivalentTo"} xref: UMLS:C0238590 {source="Orphanet:2500", source="MONDO:equivalentTo", source="Orphanet:2500/e"} xref: UMLS:C0406584 {source="Orphanet:2500", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:201200", source="Orphanet:2500/e"} is_a: MONDO:0019303 {source="Orphanet:2500"} ! premature aging syndrome is_a: MONDO:0100118 ! hereditary skin disorder property_value: exactMatch http://identifiers.org/mesh/C538187 property_value: exactMatch http://identifiers.org/snomedct/238872007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238590 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406584 property_value: exactMatch https://omim.org/entry/201200 property_value: exactMatch Orphanet:2500 [Term] id: MONDO:0008717 name: acromesomelic dysplasia 2C, Hunter-Thompson type def: "Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal." [Orphanet:968] subset: ordo_malformation_syndrome {source="Orphanet:968"} synonym: "acromesomelic dwarfism" EXACT [DOID:0080051, Orphanet:968] synonym: "acromesomelic dysplasia 2C, Hunter-Thompson type" EXACT [OMIM:201250, OMIM:genemap2] synonym: "acromesomelic dysplasia Hunter Thompson type" RELATED [GARD:0000506] synonym: "acromesomelic dysplasia, Hunter-Thompson type" EXACT [MONDO:Lexical, OMIM:201250] synonym: "AMDH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:201250] xref: DOID:0080051 {source="MONDO:equivalentTo"} xref: OMIM:201250 {source="MONDO:equivalentTo", source="Orphanet:968", source="Orphanet:968/e", source="DOID:0080051"} xref: Orphanet:968 {source="OMIM:201250", source="MONDO:equivalentTo"} is_a: MONDO:0019696 {source="DC-OMIM:201250", source="DOID:0080051", source="OMIM:201250", source="Orphanet:968"} ! acromesomelic dysplasia property_value: exactMatch DOID:0080051 property_value: exactMatch https://omim.org/entry/201250 property_value: exactMatch Orphanet:968 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008721 name: medium chain acyl-CoA dehydrogenase deficiency def: "Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention." [Orphanet:42] subset: clingen subset: ordo_disease {source="Orphanet:42"} synonym: "ACADM deficiency" EXACT [OMIM:201450, Orphanet:42] synonym: "ACADMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:201450] synonym: "acyl-CoA dehydrogenase medium chain deficiency of" RELATED [GARD:0000540] synonym: "Acyl-CoA dehydrogenase, medium chain, deficiency of" EXACT [OMIM:201450, OMIM:genemap2] synonym: "acyl-CoA dehydrogenase, medium-chain deficiency" EXACT [NCIT:C84538] synonym: "acyl-CoA dehydrogenase, medium-chain, deficiency OF" RELATED [MONDO:Lexical, OMIM:201450] synonym: "Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency" EXACT [Orphanet:42] synonym: "Carnitine deficiency secondary to medium-chain acyl-Coa dehydrogenase deficiency" RELATED [OMIM:201450] synonym: "MCAD" EXACT ABBREVIATION [NCIT:C84538] synonym: "MCAD deficiency" EXACT [OMIM:201450, Orphanet:42] synonym: "MCADD" EXACT ABBREVIATION [Orphanet:42] synonym: "Mcadh deficiency" RELATED [OMIM:201450] synonym: "medium chain acyl CoA dehydrogenase deficiency" RELATED [GARD:0000540] synonym: "medium chain acyl-CoA dehydrogenase deficiency" EXACT [] synonym: "medium chain acyl-coenzyme A dehydrogenase deficiency" EXACT [Orphanet:42] synonym: "medium-chain acyl-CoA dehydrogenase deficiency" EXACT [NCIT:C84538] synonym: "medium-chain acyl-Coenzyme A dehydrogenase deficiency" EXACT [NCIT:C84538] xref: DOID:0080153 {source="MONDO:equivalentTo"} xref: ICD10CM:E71.311 {source="MONDO:equivalentTo"} xref: ICD9:277.85 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536038 {source="Orphanet:42", source="MONDO:equivalentTo", source="Orphanet:42/e"} xref: NCIT:C84538 {source="MONDO:equivalentTo"} xref: OMIM:201450 {source="Orphanet:42", source="DOID:0080153", source="MONDO:equivalentTo", source="Orphanet:42/e"} xref: Orphanet:42 {source="OMIM:201450", source="MONDO:equivalentTo"} xref: SCTID:128596003 {source="MONDO:equivalentTo"} xref: UMLS:C0220710 {source="Orphanet:42", source="OMIM:201450", source="NCIT:C84538", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:42/e"} is_a: MONDO:0017714 {source="Orphanet:42"} ! acyl-CoA dehydrogenase deficiency property_value: exactMatch DOID:0080153 property_value: exactMatch http://identifiers.org/mesh/C536038 property_value: exactMatch http://identifiers.org/snomedct/128596003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220710 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E71.311 property_value: exactMatch https://omim.org/entry/201450 property_value: exactMatch NCIT:C84538 property_value: exactMatch Orphanet:42 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008722 name: short chain acyl-CoA dehydrogenase deficiency def: "Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy." [Orphanet:26792] subset: clingen subset: gard_rare {source="GARD:0004822"} subset: ordo_disease {source="Orphanet:26792"} synonym: "ACADS deficiency" EXACT [Orphanet:26792] synonym: "Acads deficiency" RELATED [OMIM:201470] synonym: "ACADSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:201470] synonym: "acyl-CoA dehydrogenase, short-chain deficiency" EXACT [NCIT:C84539] synonym: "acyl-CoA dehydrogenase, short-chain, deficiency OF" RELATED [MONDO:Lexical, OMIM:201470] synonym: "lipid-storage myopathy secondary to short-chain acyl-Coa dehydrogenase deficiency" RELATED [OMIM:201470] synonym: "SCAD" EXACT ABBREVIATION [NCIT:C84539] synonym: "SCAD deficiency" EXACT [Orphanet:26792] synonym: "Scad deficiency" RELATED [OMIM:201470] synonym: "SCADD" EXACT ABBREVIATION [Orphanet:26792] synonym: "Scadh deficiency" RELATED [OMIM:201470] synonym: "short chain acyl-CoA dehydrogenase deficiency" EXACT [] synonym: "short-chain acyl-CoA dehydrogenase deficiency" RELATED [GARD:0004822] synonym: "short-chain acyl-CoA dehydrogenase deficiency (SCAD)" EXACT [NCIT:C84539] synonym: "short-chain acyl-coenzyme A dehydrogenase deficiency" RELATED [GARD:0004822] synonym: "short-chain acyl-Coenzyme A dehydrogenase deficiency (SCAD)" EXACT [NCIT:C84539] xref: DOID:0080154 {source="MONDO:equivalentTo"} xref: ICD10CM:E71.312 {source="MONDO:equivalentTo"} xref: MESH:C537596 {source="MONDO:equivalentTo", source="Orphanet:26792", source="Orphanet:26792/e"} xref: NCIT:C84539 {source="MONDO:equivalentTo"} xref: OMIM:201470 {source="DOID:0080154", source="MONDO:equivalentTo", source="Orphanet:26792", source="Orphanet:26792/e"} xref: Orphanet:26792 {source="OMIM:201470", source="MONDO:equivalentTo"} is_a: MONDO:0017714 {source="Orphanet:26792"} ! acyl-CoA dehydrogenase deficiency property_value: exactMatch DOID:0080154 property_value: exactMatch http://identifiers.org/mesh/C537596 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E71.312 property_value: exactMatch https://omim.org/entry/201470 property_value: exactMatch NCIT:C84539 property_value: exactMatch Orphanet:26792 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4822/short-chain-acyl-coa-dehydrogenase-deficiency xsd:anyURI {source="GARD:0004822"} [Term] id: MONDO:0008723 name: very long chain acyl-CoA dehydrogenase deficiency def: "An inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." [Orphanet:26793] subset: clingen subset: ordo_disease {source="Orphanet:26793"} synonym: "ACADVLD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:201475] synonym: "acyl-CoA dehydrogenase, very long-chain deficiency" EXACT [NCIT:C98647] synonym: "acyl-CoA dehydrogenase, very long-chain, deficiency OF" RELATED [MONDO:Lexical, OMIM:201475] synonym: "very long chain acyl-CoA dehydrogenase deficiency" EXACT [] synonym: "very long-chain acyl-CoA dehydrogenase deficiency" EXACT [NCIT:C98647] synonym: "very long-chain acyl-Coenzyme A dehydrogenase deficiency" EXACT [NCIT:C98647] synonym: "VLCAD" EXACT ABBREVIATION [NCIT:C98647] synonym: "VLCAD deficiency" EXACT [OMIM:201475, Orphanet:26793] synonym: "VLCADD" EXACT ABBREVIATION [Orphanet:26793] xref: DOID:0080155 {source="MONDO:equivalentTo"} xref: ICD10CM:E71.310 {source="MONDO:equivalentTo"} xref: NCIT:C98647 {source="MONDO:equivalentTo"} xref: OMIM:201475 {source="DOID:0080155", source="MONDO:equivalentTo", source="Orphanet:26793", source="Orphanet:26793/e"} xref: Orphanet:26793 {source="MONDO:equivalentTo", source="OMIM:201475"} xref: SCTID:237997005 {source="MONDO:equivalentTo"} xref: UMLS:C0342784 {source="MONDO:relatedTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:201475"} xref: UMLS:C3887523 {source="NCIT:C98647", source="MONDO:equivalentTo", source="Orphanet:26793"} is_a: MONDO:0017713 ! disorder of fatty acid oxidation and ketogenesis is_a: MONDO:0024573 ! familial hypertrophic cardiomyopathy property_value: exactMatch DOID:0080155 property_value: exactMatch http://identifiers.org/snomedct/237997005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3887523 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E71.310 property_value: exactMatch https://omim.org/entry/201475 property_value: exactMatch NCIT:C98647 property_value: exactMatch Orphanet:26793 [Term] id: MONDO:0008724 name: adducted thumbs-arthrogryposis syndrome, Christian type def: "A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (\"myopathic\" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983." [Orphanet:2952] subset: ordo_malformation_syndrome {source="Orphanet:2952"} synonym: "adducted thumbs syndrome" RELATED [OMIM:201550] xref: OMIM:201550 {source="MONDO:equivalentTo", source="Orphanet:2952", source="Orphanet:2952/e"} xref: Orphanet:2952 {source="OMIM:201550", source="MONDO:equivalentTo"} is_a: MONDO:0015168 {source="Orphanet:2952"} ! arthrogryposis multiplex congenita property_value: exactMatch https://omim.org/entry/201550 property_value: exactMatch Orphanet:2952 property_value: excluded_subClassOf MONDO:0015501 {source="Orphanet:2952"} [Term] id: MONDO:0008725 name: congenital lipoid adrenal hyperplasia due to STAR deficency def: "Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males." [Orphanet:90790] subset: ordo_disease {source="Orphanet:90790"} synonym: "adrenal hyperplasia 1" RELATED [OMIM:201710] synonym: "CLAH" EXACT ABBREVIATION [Orphanet:90790] synonym: "congenital adrenal hyperplasia lipoid" RELATED [GARD:0001465] synonym: "LCAH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:201710] synonym: "lipoid adrenal hyperplasia" EXACT [OMIM:201710, OMIM:genemap2] synonym: "lipoid congenital adrenal hyperplasia" RELATED [MONDO:Lexical, OMIM:201710] synonym: "lipoid hyperplasia, congenital, of adrenal cortex with Male pseudohermaphroditism" RELATED [OMIM:201710] xref: OMIM:201710 {source="Orphanet:90790", source="MONDO:equivalentTo", source="Orphanet:90790/e"} xref: Orphanet:90790 {source="MONDO:equivalentTo", source="OMIM:201710"} xref: SCTID:44231009 {source="MONDO:equivalentTo"} xref: UMLS:C0342474 {source="Orphanet:90790", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:90790/e", source="OMIM:201710"} is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0017969 ! 46,XY disorder of sex development of endocrine origin is_a: MONDO:0018479 {source="Orphanet:90790"} ! congenital adrenal hyperplasia is_a: MONDO:0019852 {source="Orphanet:90790"} ! inherited primary ovarian failure is_a: MONDO:0957025 ! hereditary 46,XY disorder of sex development property_value: exactMatch http://identifiers.org/snomedct/44231009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342474 property_value: exactMatch https://omim.org/entry/201710 property_value: exactMatch Orphanet:90790 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008727 name: congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency def: "Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." [Orphanet:90791] subset: ordo_disease {source="Orphanet:90791"} synonym: "3-beta HSD deficiency" EXACT [NCIT:C131088] synonym: "3-Beta-HSD deficiency" RELATED [OMIM:201810] synonym: "3-Beta-hydroxysteroid dehydrogenase deficiency" RELATED [OMIM:201810] synonym: "3-BETA-hydroxysteroid dehydrogenase, type II, deficiency OF" RELATED [OMIM:201810] synonym: "3b-hydroxysteroid dehydrogenase deficiency" RELATED [GARD:0009152] synonym: "adrenal hyperplasia 2" RELATED [OMIM:201810] synonym: "adrenal hyperplasia II" RELATED [GARD:0009152] synonym: "adrenal hyperplasia, congenital, due to 3-BETA-hydroxysteroid dehydrogenase 2 deficiency" RELATED [OMIM:201810] synonym: "adrenal hyperplasia, congenital, due to 3-Beta-hydroxysteroid dehydrogenase 2 deficiency" RELATED [OMIM:201810] synonym: "CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency" EXACT [Orphanet:90791] synonym: "HSD3B deficiency" RELATED [GARD:0009152] synonym: "type II 3-beta-hydroxysteroid dehydrogenase deficiency" RELATED [GARD:0009152] xref: MESH:C538236 {source="MONDO:equivalentTo"} xref: NCIT:C131088 {source="MONDO:equivalentTo"} xref: OMIM:201810 {source="Orphanet:90791", source="MONDO:equivalentTo", source="Orphanet:90791/e"} xref: Orphanet:90791 {source="MONDO:equivalentTo", source="OMIM:201810"} xref: SCTID:54470008 {source="MONDO:equivalentTo"} is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0017969 ! 46,XY disorder of sex development of endocrine origin is_a: MONDO:0018479 {source="MESH:C538236", source="MONDO:Redundant", source="Orphanet:90791"} ! congenital adrenal hyperplasia is_a: MONDO:0019593 {source="Orphanet:90791"} ! 46,XX disorder of sex development induced by fetal androgens excess is_a: MONDO:0957024 ! hereditary 46,XX disorder of sex development is_a: MONDO:0957025 ! hereditary 46,XY disorder of sex development relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch http://identifiers.org/mesh/C538236 property_value: exactMatch http://identifiers.org/snomedct/54470008 property_value: exactMatch https://omim.org/entry/201810 property_value: exactMatch NCIT:C131088 property_value: exactMatch Orphanet:90791 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0008728 name: classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency def: "The most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia." [Orphanet:90794] subset: gard_rare subset: ordo_disease {source="Orphanet:90794"} synonym: "21 hydroxylase deficiency" RELATED [GARD:0005757] synonym: "21-hydroxylase deficiency" RELATED [OMIM:201910] synonym: "21-OHD" EXACT [NCIT:C131087] synonym: "adrenal hyperplasia 3" RELATED [OMIM:201910] synonym: "adrenal hyperplasia, congenital, due to 21-HYDROXYLASE deficiency" RELATED [OMIM:201910] synonym: "adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency" RELATED [GARD:0005757] synonym: "classic 21-OHD CAH" EXACT [Orphanet:90794] synonym: "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency" EXACT [] synonym: "congenital adrenal hyperplasia 1" RELATED [OMIM:201910] synonym: "congenital adrenal hyperplasia due to 21-hydroxylase deficiency" RELATED [GARD:0005757] synonym: "CYP21 deficiency" RELATED [GARD:0005757, OMIM:201910] synonym: "hyperandrogenism, Nonclassic type, due to 21-Hydroxylase deficiency" RELATED [OMIM:201910] xref: MESH:C535979 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: NCIT:C131087 {source="MONDO:equivalentTo"} xref: OMIM:201910 {source="GARD:0005757", source="MONDO:equivalentTo", source="Orphanet:90794", source="Orphanet:90794/e"} xref: Orphanet:90794 {source="MONDO:equivalentTo", source="OMIM:201910"} xref: SCTID:124221007 {source="MONDO:equivalentTo"} xref: SCTID:717261006 {source="MONDO:equivalentTo"} xref: UMLS:C4273964 {source="MONDO:equivalentTo"} is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0018479 {source="Orphanet:90794"} ! congenital adrenal hyperplasia is_a: MONDO:0019593 {source="Orphanet:90794"} ! 46,XX disorder of sex development induced by fetal androgens excess is_a: MONDO:0957024 ! hereditary 46,XX disorder of sex development relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch http://identifiers.org/mesh/C535979 property_value: exactMatch http://identifiers.org/snomedct/124221007 property_value: exactMatch http://identifiers.org/snomedct/717261006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4273964 property_value: exactMatch https://omim.org/entry/201910 property_value: exactMatch NCIT:C131087 property_value: exactMatch Orphanet:90794 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0008729 name: congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency def: "Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." [Orphanet:90795] subset: ordo_disease {source="Orphanet:90795"} synonym: "11-Beta-Hydroxylase deficiency" RELATED [OMIM:202010] synonym: "adrenal hyperplasia 4" RELATED [OMIM:202010] synonym: "adrenal hyperplasia hypertensive form" RELATED [GARD:0005658] synonym: "adrenal hyperplasia IV" RELATED [GARD:0005658] synonym: "adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency" EXACT [OMIM:202010, OMIM:genemap2] synonym: "adrenal hyperplasia, congenital, due to steroid 11-BETA-HYDROXYLASE deficiency" RELATED [OMIM:202010] synonym: "adrenal hyperplasia, hypertensive form" RELATED [OMIM:202010] synonym: "CAH due to 11-beta-hydroxylase deficiency" EXACT [Orphanet:90795] synonym: "CYP11B1 deficiency" EXACT [Orphanet:90795] synonym: "P450C11B1 deficiency" RELATED [OMIM:202010] synonym: "steroid 11-Beta-Hydroxylase deficiency" RELATED [OMIM:202010] xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10000002 {source="Orphanet:90795", source="Orphanet:90795/e"} xref: MESH:C535978 {source="MONDO:equivalentTo", source="Orphanet:90795", source="Orphanet:90795/e"} xref: NCIT:C131085 {source="MONDO:equivalentTo"} xref: OMIM:202010 {source="MONDO:equivalentTo", source="Orphanet:90795", source="Orphanet:90795/e"} xref: Orphanet:90795 {source="OMIM:202010", source="MONDO:equivalentTo"} xref: SCTID:124214007 {source="MONDO:equivalentTo"} xref: UMLS:C0268292 {source="OMIM:202010", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C131085", source="Orphanet:90795", source="Orphanet:90795/e"} is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0018479 {source="MESH:C535978", source="Orphanet:90795"} ! congenital adrenal hyperplasia is_a: MONDO:0019593 {source="Orphanet:90795"} ! 46,XX disorder of sex development induced by fetal androgens excess is_a: MONDO:0957024 ! hereditary 46,XX disorder of sex development relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: closeMatch http://identifiers.org/meddra/10000002 property_value: exactMatch http://identifiers.org/mesh/C535978 property_value: exactMatch http://identifiers.org/snomedct/124214007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268292 property_value: exactMatch https://omim.org/entry/202010 property_value: exactMatch NCIT:C131085 property_value: exactMatch Orphanet:90795 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008730 name: congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency def: "A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." [Orphanet:90793] subset: ordo_disease {source="Orphanet:90793"} synonym: "17,20-lyase deficiency, isolated" RELATED [OMIM:202110] synonym: "17-Alpha-Hydroxylase deficiency" RELATED [OMIM:202110] synonym: "17-alpha-hydroxylase/17,20-lyase deficiency" EXACT [OMIM:202110, OMIM:genemap2] synonym: "17-Alpha-Hydroxylase/17,20-lyase deficiency, combined complete" RELATED [OMIM:202110] synonym: "17-Alpha-Hydroxylase/17,20-lyase deficiency, combined partial" RELATED [OMIM:202110] synonym: "adrenal hyperplasia 5" RELATED [OMIM:202110] synonym: "adrenal hyperplasia, congenital, due to 17-ALPHA-HYDROXYLASE deficiency" RELATED [OMIM:202110] synonym: "CAH due to 17-alpha-hydroxylase deficiency" EXACT [Orphanet:90793] synonym: "combined 17-hydroxylase/17,20-lyase deficiency" EXACT [Orphanet:90793] synonym: "congenital adrenal hyperplasia type 5" RELATED [GARD:0001469] xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:202110 {source="MONDO:equivalentTo", source="Orphanet:90793", source="Orphanet:90793/e"} xref: Orphanet:90793 {source="OMIM:202110", source="MONDO:equivalentTo"} xref: SCTID:124220008 {source="MONDO:equivalentTo"} is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0017969 ! 46,XY disorder of sex development of endocrine origin is_a: MONDO:0018479 {source="Orphanet:90793", source="https://orcid.org/0000-0001-5208-3432"} ! congenital adrenal hyperplasia is_a: MONDO:0957025 ! hereditary 46,XY disorder of sex development relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch http://identifiers.org/snomedct/124220008 property_value: exactMatch https://omim.org/entry/202110 property_value: exactMatch Orphanet:90793 property_value: excluded_subClassOf MONDO:0019852 {source="Orphanet:90793"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1469/17-alpha-hydroxylase-deficiency xsd:string [Term] id: MONDO:0008731 name: familial adrenal hypoplasia with absent pituitary luteinizing hormone subset: ordo_disease {source="Orphanet:95700"} synonym: "adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone" RELATED [OMIM:202150] synonym: "familial adrenal hypoplasia with absent pituitary LH" EXACT [Orphanet:95700] synonym: "familial adrenal hypoplasia, miniature type" EXACT [Orphanet:95700] xref: MESH:C565976 {source="MONDO:equivalentTo"} xref: OMIM:202150 {source="MONDO:equivalentTo", source="Orphanet:95700", source="Orphanet:95700/e"} xref: Orphanet:95700 {source="MONDO:equivalentTo", source="OMIM:202150"} xref: UMLS:C1859978 {source="MONDO:equivalentTo", source="Orphanet:95700", source="MONDO:ncbi_mim2gene_medline", source="OMIM:202150"} is_a: MONDO:0015129 {source="Orphanet:95700", source="Orphanet:95700/inferred"} ! chronic primary adrenal insufficiency is_a: MONDO:0015770 {source="MONDO:0015891-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! congenital hypogonadotropic hypogonadism is_a: MONDO:0957025 ! hereditary 46,XY disorder of sex development relationship: has_characteristic MONDO:0021140 ! congenital property_value: exactMatch http://identifiers.org/mesh/C565976 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859978 property_value: exactMatch https://omim.org/entry/202150 property_value: exactMatch Orphanet:95700 [Term] id: MONDO:0008733 name: familial glucocorticoid deficiency def: "Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency." [Orphanet:361] subset: gard_rare {source="GARD:0002498"} subset: ordo_disease {source="Orphanet:361"} synonym: "GCCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:202200] synonym: "glucocorticoid deficiency" BROAD [MONDO:Lexical, MONDORULE:1, OMIM:202200] xref: DOID:0080620 {source="MONDO:equivalentTo"} xref: MESH:C565974 {source="MONDO:equivalentTo"} xref: NCIT:C120446 {source="MONDO:equivalentTo"} xref: OMIMPS:202200 {source="MONDO:equivalentTo"} xref: Orphanet:361 {source="OMIM:202200", source="MONDO:equivalentTo"} xref: SCTID:765326001 {source="MONDO:equivalentTo"} xref: UMLS:CN204661 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0015129 {source="Orphanet:361", source="Orphanet:361/inferred"} ! chronic primary adrenal insufficiency relationship: has_characteristic MONDO:0021136 {source="MONDO:0015971"} ! rare property_value: exactMatch DOID:0080620 property_value: exactMatch http://identifiers.org/mesh/C565974 property_value: exactMatch http://identifiers.org/snomedct/765326001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204661 property_value: exactMatch https://omim.org/phenotypicSeries/PS202200 property_value: exactMatch NCIT:C120446 property_value: exactMatch Orphanet:361 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2498/familial-glucocorticoid-deficiency xsd:anyURI {source="GARD:0002498"} [Term] id: MONDO:0008734 name: adrenocortical carcinoma, hereditary def: "An instance of adrenal cortex carcinoma that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] synonym: "ADCC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:202300] synonym: "adrenocortical carcinoma, hereditary" EXACT [MONDO:Lexical, OMIM:202300] synonym: "adrenocortical carcinoma, paediatric" RELATED OMO:0003005 [] synonym: "adrenocortical carcinoma, pediatric" RELATED [OMIM:202300] synonym: "hereditary adrenal cortex carcinoma" EXACT [MONDO:patterns/hereditary] xref: MESH:C565972 {source="MONDO:equivalentTo"} xref: OMIM:202300 {source="MONDO:equivalentTo"} xref: UMLS:C1859972 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:202300"} is_a: EFO:1000796 {source="MONDO:Redundant", source="Orphanet:1501/btnt"} ! adrenal cortex carcinoma is_a: MONDO:0003008 ! hereditary renal cell carcinoma intersection_of: EFO:1000796 ! adrenal cortex carcinoma intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/mesh/C565972 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859972 property_value: exactMatch https://omim.org/entry/202300 [Term] id: MONDO:0008737 name: congenital afibrinogenemia def: "Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen." [Orphanet:98880] subset: ordo_clinical_subtype {source="Orphanet:98880"} synonym: "afibrinogenemia" RELATED [GARD:0005761] synonym: "afibrinogenemia congenital" RELATED [GARD:0005761] synonym: "afibrinogenemia, congenital" RELATED [OMIM:202400] synonym: "factor I deficiency" NARROW [DOID:2236] synonym: "familial afibrinogenemia" RELATED [Orphanet:98880] synonym: "fibrinogen deficiency" EXACT [DOID:2236] synonym: "hypofibrinogenemia, congenital" RELATED [OMIM:202400] xref: DOID:2236 {source="MONDO:equivalentTo"} xref: MESH:D000347 {source="MONDO:equivalentTo", source="DOID:2236"} xref: NCIT:C98130 {source="MONDO:equivalentTo", source="DOID:2236"} xref: OMIM:202400 {source="Orphanet:98880/e", source="MONDO:equivalentTo", source="DOID:2236", source="Orphanet:98880"} xref: Orphanet:98880 {source="MONDO:equivalentTo", source="OMIM:202400"} xref: SCTID:154818001 {source="MONDO:equivalentTo"} is_a: MONDO:0014452 ! familial dysfibrinogenemia property_value: exactMatch DOID:2236 property_value: exactMatch http://identifiers.org/mesh/D000347 property_value: exactMatch http://identifiers.org/snomedct/154818001 property_value: exactMatch https://omim.org/entry/202400 property_value: exactMatch NCIT:C98130 property_value: exactMatch Orphanet:98880 [Term] id: MONDO:0008740 name: agnathia-otocephaly complex def: "Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis." [Orphanet:990] subset: ordo_malformation_syndrome {source="Orphanet:990"} synonym: "agnathia-holoprosencephaly" RELATED [GARD:0009126] synonym: "agnathia-holoprosencephaly-situs inversus syndrome" EXACT [DOID:0060341, Orphanet:990] synonym: "agnathia-otocephaly complex" EXACT [MONDO:Lexical, OMIM:202650] synonym: "AGOTC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:202650] synonym: "Dysgnathia Complex agnathia-holoprosencephaly" RELATED [OMIM:202650] synonym: "dysgnathia complex agnathia-holoprosencephaly" EXACT [DOID:0060341, OMIM:202650] synonym: "holoprosencephaly-agnathia" EXACT [DOID:0060341, OMIM:202650] synonym: "otocephaly" EXACT [DOID:0060341, OMIM:202650] xref: DOID:0060341 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C124568 {source="MONDO:equivalentTo"} xref: OMIM:202650 {source="DOID:0060341", source="Orphanet:990/e", source="MONDO:equivalentTo", source="Orphanet:990"} xref: Orphanet:990 {source="DOID:0060341", source="OMIM:202650", source="MONDO:equivalentTo"} xref: SCTID:48180002 {source="MONDO:equivalentTo"} xref: UMLS:CN207252 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:990"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch DOID:0060341 property_value: exactMatch http://identifiers.org/snomedct/48180002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207252 property_value: exactMatch https://omim.org/entry/202650 property_value: exactMatch NCIT:C124568 property_value: exactMatch Orphanet:990 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:990"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0008741 name: PAGOD syndrome def: "PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." [Orphanet:991] subset: ordo_malformation_syndrome {source="Orphanet:991"} synonym: "agonadism with multiple internal malformations" RELATED [OMIM:202660] synonym: "Kennerknecht sorgo Oberhoffer syndrome" RELATED [GARD:0003086] synonym: "PAGOD syndrome" EXACT [OMIM:202660] synonym: "pulmonary hypoplasia, hypoplasia of the pulmonary artery, agonadism, omphalocele-diaphragmatic defect, and dextrocardia" RELATED [GARD:0003086] synonym: "pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome" EXACT [Orphanet:991] xref: MESH:C537018 {source="MONDO:equivalentTo"} xref: OMIM:202660 {source="Orphanet:991/e", source="MONDO:equivalentTo", source="Orphanet:991"} xref: Orphanet:991 {source="OMIM:202660", source="MONDO:equivalentTo"} xref: SCTID:722132007 {source="MONDO:equivalentTo"} xref: UMLS:C1859967 {source="OMIM:202660", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015161 {source="Orphanet:991"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015846 {source="Orphanet:991"} ! syndromic uterovaginal malformation is_a: MONDO:0020040 ! 46,XY disorder of sex development relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch http://identifiers.org/mesh/C537018 property_value: exactMatch http://identifiers.org/snomedct/722132007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859967 property_value: exactMatch https://omim.org/entry/202660 property_value: exactMatch Orphanet:991 [Term] id: MONDO:0008742 name: autosomal dominant severe congenital neutropenia def: "Autosomal dominant form of severe congenital neutropenia." [MONDO:patterns/autosomal_dominant] subset: gard_rare {source="GARD:0009558"} subset: ordo_disease {source="Orphanet:486"} synonym: "severe congenital neutropenia autosomal dominant" RELATED [GARD:0009558] synonym: "severe congenital neutropenia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: DOID:0112130 {source="MONDO:equivalentTo"} xref: NCIT:C166155 {source="MONDO:equivalentTo"} xref: Orphanet:486 {source="MONDO:equivalentTo", source="OMIM:202700"} xref: UMLS:C1859966 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:202700"} is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0018542 {source="DC-OMIM:202700", source="MONDO:Redundant", source="OMIM:202700", source="Orphanet:486"} ! severe congenital neutropenia property_value: exactMatch DOID:0112130 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859966 property_value: exactMatch NCIT:C166155 property_value: exactMatch Orphanet:486 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9558/severe-congenital-neutropenia-autosomal-dominant xsd:anyURI {source="GARD:0009558"} [Term] id: MONDO:0008743 name: Stimmler syndrome def: "Stimmler syndrome is characterized by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood." [Orphanet:3199] subset: ordo_malformation_syndrome {source="Orphanet:3199"} synonym: "Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus" RELATED [GARD:0005026] synonym: "ALANINURIA with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus" RELATED [OMIM:202900] synonym: "Stimmler syndrome" EXACT [OMIM:202900] xref: MESH:C565968 {source="MONDO:equivalentTo"} xref: OMIM:202900 {source="Orphanet:3199", source="MONDO:equivalentTo", source="Orphanet:3199/e"} xref: Orphanet:3199 {source="MONDO:equivalentTo", source="OMIM:202900"} xref: SCTID:733072002 {source="MONDO:equivalentTo"} xref: UMLS:C1859965 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:202900"} is_a: MONDO:0015159 {source="Orphanet:3199"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C565968 property_value: exactMatch http://identifiers.org/snomedct/733072002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859965 property_value: exactMatch https://omim.org/entry/202900 property_value: exactMatch Orphanet:3199 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3199"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0008744 name: alar cartilages hypoplasia-coloboma-telecanthus syndrome def: "Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976." [Orphanet:2007] subset: ordo_malformation_syndrome {source="Orphanet:2007"} synonym: "alar-nasal cartilages, coloboma of, with telecanthus" RELATED [OMIM:203000] synonym: "coloboma of alar-nasal cartilages with telecanthus" RELATED [GARD:0000588] synonym: "frontonasal dysplasia with alar clefts" RELATED [OMIM:203000] xref: MESH:C535967 {source="MONDO:equivalentTo"} xref: OMIM:203000 {source="MONDO:equivalentTo", source="Orphanet:2007", source="Orphanet:2007/e"} xref: Orphanet:2007 {source="OMIM:203000", source="MONDO:equivalentTo"} xref: UMLS:C1859964 {source="OMIM:203000", source="MONDO:equivalentTo", source="Orphanet:2007", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2007/e"} is_a: MONDO:0015161 {source="Orphanet:2007"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C535967 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859964 property_value: exactMatch https://omim.org/entry/203000 property_value: exactMatch Orphanet:2007 [Term] id: MONDO:0008745 name: oculocutaneous albinism type 1A def: "Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves." [Orphanet:79431] subset: ordo_clinical_subtype {source="Orphanet:79431"} synonym: "albinism 1" RELATED [OMIM:203100] synonym: "albinism, oculocutaneous, type 1A" RELATED [OMIM:203100] synonym: "albinism, oculocutaneous, type IA" RELATED [MONDO:Lexical, OMIM:203100] synonym: "OCA1A" EXACT ABBREVIATION [DOID:0070094, MONDO:Lexical, OMIM:203100, Orphanet:79431] synonym: "oculocutaneous albinism caused by mutation in TYR" EXACT [] synonym: "oculocutaneous albinism caused by mutation in Tyr" EXACT [MONDO:design_pattern] synonym: "oculocutaneous albinism type IA" RELATED [DOID:0070094] synonym: "oculocutaneous albinism, type 1" RELATED [OMIM:203100] synonym: "oculocutaneous albinism, tyrosinase-negative" EXACT [DOID:0070094, OMIM:203100] synonym: "TYR oculocutaneous albinism" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Tyr oculocutaneous albinism" EXACT [MONDO:design_pattern] synonym: "tyrosinase-negative oculocutaneous albinism" EXACT [Orphanet:79431] xref: DOID:0070094 {source="MONDO:equivalentTo"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C168731 {source="MONDO:equivalentTo"} xref: OMIM:203100 {source="Orphanet:79431/e", source="MONDO:equivalentTo", source="DOID:0070094", source="Orphanet:79431"} xref: Orphanet:79431 {source="OMIM:203100", source="MONDO:equivalentTo"} xref: SCTID:6483008 {source="MONDO:equivalentTo"} is_a: MONDO:0018135 {source="Orphanet:79431"} ! oculocutaneous albinism type 1 is_a: MONDO:0040653 ! autosomal recessive ocular albinism property_value: exactMatch DOID:0070094 property_value: exactMatch http://identifiers.org/snomedct/6483008 property_value: exactMatch https://omim.org/entry/203100 property_value: exactMatch NCIT:C168731 property_value: exactMatch Orphanet:79431 [Term] id: MONDO:0008746 name: oculocutaneous albinism type 2 def: "Oculocutaneous albinism type 2 (OCA2) is a type of OCA and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm." [Orphanet:79432] subset: gard_rare {source="GARD:0004038"} subset: ordo_disease {source="Orphanet:79432"} synonym: "albinism 2" RELATED [OMIM:203200] synonym: "albinism, Brown oculocutaneous" RELATED [OMIM:203200] synonym: "albinism, oculocutaneous, type 2" RELATED [GARD:0004038] synonym: "albinism, oculocutaneous, type II" RELATED [MONDO:Lexical, OMIM:203200] synonym: "albinism, oculocutaneous, type II, modifier of" EXACT [OMIM:203200, OMIM:genemap2] synonym: "Albinoidism" RELATED [GARD:0004038] synonym: "Brown oculocutaneous albinism" RELATED [OMIM:203200] synonym: "OCA2" EXACT ABBREVIATION [DOID:0070096, MONDO:Lexical, OMIM:203200, Orphanet:79432] synonym: "oculocutaneous albinism type 2" EXACT [] synonym: "oculocutaneous albinism type II" RELATED [DOID:0070096] synonym: "oculocutaneous albinism tyrosinase positive" RELATED [GARD:0004038] synonym: "oculocutaneous albinism, type 2" RELATED [OMIM:203200] synonym: "oculocutaneous albinism, tyrosinase-positive" EXACT [DOID:0070096, OMIM:203200] synonym: "tyrosinase-positive oculocutaneous albinism" RELATED [GARD:0004038] xref: DOID:0070096 {source="MONDO:equivalentTo"} xref: MESH:C537730 {source="Orphanet:79432/e", source="MONDO:equivalentTo", source="Orphanet:79432"} xref: OMIM:203200 {source="Orphanet:79432/e", source="MONDO:equivalentTo", source="Orphanet:79432", source="DOID:0070096"} xref: Orphanet:79432 {source="OMIM:203200", source="MONDO:equivalentTo"} xref: UMLS:C0268495 {source="Orphanet:79432/e", source="OMIM:203200", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:79432"} is_a: MONDO:0018910 {source="DC-OMIM:203200", source="DOID:0070096", source="MESH:C537730", source="OMIM:203200", source="Orphanet:79432"} ! oculocutaneous albinism property_value: exactMatch DOID:0070096 property_value: exactMatch http://identifiers.org/mesh/C537730 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268495 property_value: exactMatch https://omim.org/entry/203200 property_value: exactMatch Orphanet:79432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4038/oculocutaneous-albinism-type-2 xsd:anyURI {source="GARD:0004038"} [Term] id: MONDO:0008747 name: oculocutaneous albinism type 3 def: "Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population." [Orphanet:79433] subset: gard_rare subset: ordo_disease {source="Orphanet:79433"} synonym: "albinism 3" RELATED [OMIM:203290] synonym: "albinism, oculocutaneous, type 3" RELATED [GARD:0004039, OMIM:203290] synonym: "albinism, oculocutaneous, type III" RELATED [MONDO:Lexical, OMIM:203290] synonym: "OCA3" EXACT ABBREVIATION [DOID:0070097, MONDO:Lexical, OMIM:203290, Orphanet:79433] synonym: "oculocutaneous albinism caused by mutation in TYRP1" EXACT [MONDO:design_pattern] synonym: "oculocutaneous albinism type 3" EXACT [] synonym: "oculocutaneous albinism type III" RELATED [DOID:0070097] synonym: "oculocutaneous albinism, type 3" RELATED [OMIM:203290] synonym: "Red oculocutaneous albinism" EXACT [Orphanet:79433] synonym: "ROCA" RELATED ABBREVIATION [GARD:0009641] synonym: "rufous OCA" RELATED [GARD:0009641] synonym: "rufous oculocutaneous albinism" EXACT [DOID:0070097, OMIM:203290, Orphanet:79433] synonym: "TYRP1 oculocutaneous albinism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Xanthism" RELATED [GARD:0009641, OMIM:203290] synonym: "xanthous oculocutaneous albinism" EXACT [Orphanet:79433] xref: DOID:0070097 {source="MONDO:equivalentTo"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537731 {source="Orphanet:79433/e", source="MONDO:equivalentTo", source="Orphanet:79433"} xref: OMIM:203290 {source="DOID:0070097", source="Orphanet:79433/e", source="MONDO:equivalentTo", source="Orphanet:79433"} xref: OMIM:278400 {source="MONDO:equivalentObsolete", source="GARD:0009641"} xref: Orphanet:79433 {source="MONDO:equivalentTo", source="OMIM:203290"} xref: SCTID:63450009 {source="MONDO:equivalentTo"} is_a: MONDO:0018910 {source="DC-OMIM:203290", source="DOID:0070097", source="MESH:C537731", source="MONDO:Redundant", source="OMIM:203290", source="Orphanet:79433"} ! oculocutaneous albinism property_value: exactMatch DOID:0070097 property_value: exactMatch http://identifiers.org/mesh/C537731 property_value: exactMatch http://identifiers.org/snomedct/63450009 property_value: exactMatch https://omim.org/entry/203290 property_value: exactMatch Orphanet:79433 [Term] id: MONDO:0008749 name: pseudohypoparathyroidism type 2 def: "Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO), and normal expression of the Gs protein with a normal urinary cAMP response." [Orphanet:94090] subset: gard_rare {source="GARD:0010682"} subset: ordo_disease {source="Orphanet:94090"} synonym: "Php 2" RELATED [OMIM:203330] synonym: "PHP II" RELATED [GARD:0010682] synonym: "PHP2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:203330] synonym: "pseudohypoparathyroidism, type II" RELATED [MONDO:Lexical, OMIM:203330] xref: ICD9:275.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C548077 {source="MONDO:equivalentTo", source="Orphanet:94090", source="Orphanet:94090/e"} xref: OMIM:203330 {source="MONDO:equivalentTo", source="Orphanet:94090", source="Orphanet:94090/e"} xref: Orphanet:94090 {source="OMIM:203330", source="MONDO:equivalentTo"} xref: SCTID:42183005 {source="MONDO:equivalentTo"} xref: UMLS:C2932717 {source="OMIM:203330", source="MONDO:equivalentTo", source="Orphanet:94090", source="Orphanet:94090/e"} xref: UMLS:CN206737 {source="MONDO:equivalentTo"} is_a: MONDO:0019992 {source="MONDO:0018700-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! pseudohypoparathyroidism property_value: exactMatch http://identifiers.org/mesh/C548077 property_value: exactMatch http://identifiers.org/snomedct/42183005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2932717 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206737 property_value: exactMatch https://omim.org/entry/203330 property_value: exactMatch Orphanet:94090 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10682/pseudohypoparathyroidism-type-2 xsd:anyURI {source="GARD:0010682"} [Term] id: MONDO:0008750 name: microcephaly-albinism-digital anomalies syndrome def: "Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe." [Orphanet:2513] subset: gard_rare {source="GARD:0003604"} subset: ordo_malformation_syndrome {source="Orphanet:2513"} synonym: "albinism-microcephaly digital anomalies syndrome" RELATED [GARD:0003604] synonym: "albinism-microcephaly-digital anomalies syndrome" RELATED [OMIM:203340] synonym: "Castro Gago-Pombo-Novo syndrome" EXACT [Orphanet:2513] synonym: "microcephaly-albinism-digital anomalies syndrome" EXACT [OMIM:203340] xref: MESH:C537322 {source="MONDO:equivalentTo", source="Orphanet:2513", source="Orphanet:2513/e"} xref: OMIM:203340 {source="MONDO:equivalentTo", source="Orphanet:2513", source="Orphanet:2513/e"} xref: Orphanet:2513 {source="OMIM:203340", source="MONDO:equivalentTo"} xref: SCTID:719377004 {source="MONDO:equivalentTo"} xref: UMLS:C1859910 {source="OMIM:203340", source="MONDO:equivalentTo", source="Orphanet:2513", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2513/e"} is_a: MONDO:0015161 {source="Orphanet:2513"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C537322 property_value: exactMatch http://identifiers.org/snomedct/719377004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859910 property_value: exactMatch https://omim.org/entry/203340 property_value: exactMatch Orphanet:2513 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3604/microcephaly-albinism-digital-anomalies-syndrome xsd:anyURI {source="GARD:0003604"} [Term] id: MONDO:0008752 name: Alexander disease def: "Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death." [Orphanet:58] subset: gard_rare {source="GARD:0005774"} subset: ordo_disease {source="Orphanet:58"} synonym: "Alexander disease" EXACT [MONDO:Lexical, OMIM:203450] synonym: "Alexander's disease" EXACT [DOID:4252] synonym: "alexanders leukodystrophy" RELATED [GARD:0005774] synonym: "ALXDRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:203450] synonym: "AxD" EXACT [Orphanet:58] synonym: "megalencephaly in infancy accompanied by progressive spasticity and dementia" RELATED [GARD:0005774] xref: DOID:4252 {source="MONDO:equivalentTo"} xref: MESH:D038261 {source="Orphanet:58", source="MONDO:equivalentTo", source="Orphanet:58/e", source="DOID:4252"} xref: NCIT:C84545 {source="MONDO:equivalentTo", source="DOID:4252"} xref: OMIM:203450 {source="Orphanet:58", source="MONDO:equivalentTo", source="Orphanet:58/e", source="DOID:4252"} xref: Orphanet:58 {source="OMIM:203450", source="MONDO:equivalentTo"} xref: SCTID:81854007 {source="MONDO:equivalentTo", source="DOID:4252"} xref: UMLS:C0270726 {source="OMIM:203450", source="NCIT:C84545", source="Orphanet:58", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:58/e", source="DOID:4252"} is_a: MONDO:0019046 {source="DOID:4252", source="NCIT:C84545", source="Orphanet:58"} ! leukodystrophy property_value: exactMatch DOID:4252 property_value: exactMatch http://identifiers.org/mesh/D038261 property_value: exactMatch http://identifiers.org/snomedct/81854007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270726 property_value: exactMatch https://omim.org/entry/203450 property_value: exactMatch NCIT:C84545 property_value: exactMatch Orphanet:58 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5774/alexander-disease xsd:anyURI {source="GARD:0005774"} [Term] id: MONDO:0008753 name: alkaptonuria def: "A metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy)." [Orphanet:56] subset: gard_rare {source="GARD:0005775"} subset: ordo_disease {source="Orphanet:56"} synonym: "aku" RELATED [MONDO:Lexical, OMIM:203500] synonym: "alcaptonuria" EXACT [DOID:9270] synonym: "alkaptonuria" EXACT [MONDO:Lexical, OMIM:203500] synonym: "alkaptonuric ochronosis" RELATED [GARD:0005775] synonym: "deficiency of homogentisicase" RELATED [DOID:9270] synonym: "hereditary ochronosis" EXACT [Orphanet:56] synonym: "homogentisate 1,2-dioxygenase deficiency" EXACT [DOID:9270] synonym: "homogentisic acid oxidase deficiency" EXACT [OMIM:203500, Orphanet:56] synonym: "homogentisic acidura" RELATED [GARD:0005775] synonym: "ochronosis, hereditary" RELATED [GARD:0005775] xref: DOID:9270 {source="MONDO:equivalentTo"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10001689 {source="Orphanet:56", source="Orphanet:56/e"} xref: MESH:D000474 {source="Orphanet:56", source="DOID:9270", source="MONDO:equivalentTo", source="Orphanet:56/e"} xref: NCIT:C84546 {source="DOID:9270", source="MONDO:equivalentTo"} xref: OMIM:203500 {source="Orphanet:56", source="DOID:9270", source="MONDO:equivalentTo", source="Orphanet:56/e"} xref: Orphanet:56 {source="DOID:9270", source="MONDO:equivalentTo", source="OMIM:203500"} xref: SCTID:360378009 {source="DOID:9270", source="MONDO:equivalentTo"} xref: UMLS:C0002066 {source="NCIT:C84546", source="Orphanet:56", source="DOID:9270", source="MONDO:equivalentTo", source="OMIM:203500", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:56/e"} xref: UMLS:C2931645 {source="Orphanet:56", source="MONDO:equivalentTo", source="Orphanet:56/e"} is_a: MONDO:0017307 {source="Orphanet:56", source="PMID:33340416"} ! disorder of tyrosine metabolism relationship: has_characteristic MONDO:0021136 ! rare property_value: closeMatch http://identifiers.org/meddra/10001689 property_value: exactMatch DOID:9270 property_value: exactMatch http://identifiers.org/mesh/D000474 property_value: exactMatch http://identifiers.org/snomedct/360378009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002066 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931645 property_value: exactMatch https://omim.org/entry/203500 property_value: exactMatch NCIT:C84546 property_value: exactMatch Orphanet:56 property_value: excluded_subClassOf MONDO:0005093 property_value: excluded_subClassOf MONDO:0020203 {source="Orphanet:56"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5682 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5775/alkaptonuria xsd:anyURI {source="GARD:0005775"} [Term] id: MONDO:0008754 name: alopecia - contractures - dwarfism - intellectual disability syndrome def: "Alopecia-contractures-dwarfism-intellectual disability syndrome (ACD syndrome) is a form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome." [Orphanet:1005] subset: gard_rare {source="GARD:0000605"} subset: ordo_malformation_syndrome {source="Orphanet:1005"} synonym: "ACD intellectual disability syndrome" RELATED [OMIM:203550] synonym: "ACD mental retardation syndrome" RELATED DEPRECATED [OMIM:203550] synonym: "ACD-intellectual disability syndrome" EXACT [Orphanet:1005] synonym: "alopecia-contractures-dwarfism intellectual disability syndrome" RELATED [OMIM:203550] synonym: "alopecia-contractures-dwarfism mental retardation syndrome" RELATED DEPRECATED [OMIM:203550] xref: MESH:C537051 {source="MONDO:equivalentTo", source="Orphanet:1005", source="Orphanet:1005/e"} xref: OMIM:203550 {source="MONDO:equivalentTo", source="Orphanet:1005", source="Orphanet:1005/e"} xref: Orphanet:1005 {source="OMIM:203550", source="MONDO:equivalentTo"} xref: UMLS:C0795895 {source="OMIM:203550", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1005", source="Orphanet:1005/e"} is_a: MONDO:0019287 {source="Orphanet:1005"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C537051 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795895 property_value: exactMatch https://omim.org/entry/203550 property_value: exactMatch Orphanet:1005 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:1005"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/605/alopecia-contractures-dwarfism-intellectual-disability-syndrome xsd:anyURI {source="GARD:0000605"} [Term] id: MONDO:0008755 name: Moynahan syndrome subset: ordo_malformation_syndrome {source="Orphanet:2574"} synonym: "alopecia epilepsy oligophrenia syndrome of Moynahan" RELATED [GARD:0000606] synonym: "alopecia-epilepsy-intellectual disability syndrome, Moynahan type" EXACT [Orphanet:2574] synonym: "alopecia-epilepsy-oligophrenia syndrome of Moynahan" RELATED [OMIM:203600] synonym: "Moynahan alopecia syndrome" RELATED [OMIM:203600] xref: MESH:C537052 {source="MONDO:equivalentTo"} xref: OMIM:203600 {source="Orphanet:2574", source="MONDO:equivalentTo", source="Orphanet:2574/e"} xref: Orphanet:2574 {source="MONDO:equivalentTo", source="OMIM:203600"} is_a: MONDO:0015650 {source="Orphanet:2574"} ! epilepsy syndrome is_a: MONDO:0019289 {source="Orphanet:2574"} ! hyperpigmentation of the skin property_value: exactMatch http://identifiers.org/mesh/C537052 property_value: exactMatch https://omim.org/entry/203600 property_value: exactMatch Orphanet:2574 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:2574"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0008756 name: alopecia - intellectual disability syndrome def: "An extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia." [Orphanet:2850] subset: ordo_disease {source="Orphanet:2850"} synonym: "alopecia intellectual disbility syndrome 1" RELATED [GARD:0000612] synonym: "alopecia with severe intellectual deficit" RELATED [GARD:0000612] synonym: "alopecia-intellectual disability syndrome" EXACT [OMIMPS:203650] synonym: "alopecia-mental retardation syndrome" EXACT DEPRECATED [OMIMPS:203650] synonym: "Amr syndrome" RELATED [OMIM:203650] synonym: "AMR syndrome 1" RELATED [GARD:0000612] synonym: "Perniola-Krajewska-Carnevale syndrome" EXACT [Orphanet:2850] xref: DOID:0080627 {source="MONDO:equivalentTo"} xref: OMIMPS:203650 {source="MONDO:equivalentTo"} xref: Orphanet:2850 {source="OMIM:203650", source="MONDO:equivalentTo"} xref: SCTID:716191002 {source="MONDO:equivalentTo"} is_a: MONDO:0021034 {source="Orphanet:1014", source="Orphanet:2850"} ! hereditary alopecia property_value: exactMatch DOID:0080627 property_value: exactMatch http://identifiers.org/snomedct/716191002 property_value: exactMatch https://omim.org/phenotypicSeries/PS203650 property_value: exactMatch Orphanet:2850 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2850"} [Term] id: MONDO:0008757 name: alopecia universalis congenita def: "The most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body." [Orphanet:701] subset: ordo_disease {source="Orphanet:701"} synonym: "alopecia areata universalis" RELATED [GARD:0000614] synonym: "alopecia universalis" RELATED [OMIM:203655] synonym: "alopecia universalis congenita" EXACT [DOID:0050634, MONDO:Lexical, OMIM:203655] synonym: "ALUNC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:203655] synonym: "atrichia, generalised" EXACT OMO:0003005 [] synonym: "atrichia, generalized" EXACT [OMIM:203655] synonym: "AU" RELATED ABBREVIATION [GARD:0000614] xref: DOID:0050634 {source="MONDO:equivalentTo"} xref: ICD9:704.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10001767 {source="Orphanet:701", source="Orphanet:701/e"} xref: MESH:C537055 {source="Orphanet:701", source="MONDO:equivalentTo", source="Orphanet:701/e"} xref: OMIM:203655 {source="Orphanet:701/btnt", source="Orphanet:701", source="DOID:0050634", source="MONDO:equivalentTo"} xref: Orphanet:701 {source="MONDO:equivalentTo", source="OMIM:203655"} xref: SCTID:86166000 {source="MONDO:equivalentTo"} xref: UMLS:C0263505 {source="Orphanet:701", source="MONDO:equivalentTo", source="Orphanet:701/e"} is_a: MONDO:0000005 {source="OMIM:203655"} ! alopecia, isolated property_value: closeMatch http://identifiers.org/meddra/10001767 property_value: exactMatch DOID:0050634 property_value: exactMatch http://identifiers.org/mesh/C537055 property_value: exactMatch http://identifiers.org/snomedct/86166000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263505 property_value: exactMatch https://omim.org/entry/203655 property_value: exactMatch Orphanet:701 [Term] id: MONDO:0008758 name: mitochondrial DNA depletion syndrome 4a def: "Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure." [Orphanet:726] subset: ordo_disease {source="Orphanet:726"} synonym: "AHD" EXACT ABBREVIATION [NCIT:C35257] synonym: "AHS" EXACT ABBREVIATION [NCIT:C35257] synonym: "Alper syndrome" EXACT [NCIT:C35257] synonym: "Alper's disease" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Alper's syndrome" EXACT [DOID:1442, NCIT:C35257] synonym: "Alpers diffuse Degeneration of cerebral Gray matter with hepatic cirrhosis" RELATED [OMIM:203700] synonym: "Alpers diffuse Degeneration of cerebral Grey matter with hepatic cirrhosis" RELATED OMO:0003005 [] synonym: "Alpers disease" EXACT [NCIT:C35257] synonym: "Alpers Huttenlocher disease" EXACT [NCIT:C35257] synonym: "Alpers Huttenlocher syndrome" EXACT [NCIT:C35257] synonym: "Alpers progressive infantile poliodystrophy" EXACT [DOID:1442] synonym: "Alpers progressive sclerosing poliodystrophy" EXACT [Orphanet:726] synonym: "Alpers syndrome" EXACT [MONDO:0001960, OMIM:203700, Orphanet:726] synonym: "Alpers' disease or gray-matter degeneration" EXACT [DOID:1442] synonym: "Alpers-Huttenlocher syndrome" EXACT [DOID:1442, OMIM:203700] synonym: "diffuse cerebral degeneration in infancy" RELATED [GARD:0005783] synonym: "infantile poliodystrophy" RELATED [GARD:0005783] synonym: "mitochondrial DNA depletion syndrome 4A" EXACT [DOID:1442] synonym: "mitochondrial DNA depletion syndrome 4A (Alpers type)" RELATED [MONDO:Lexical, OMIM:203700] synonym: "mitochondrial DNA depletion syndrome type 4a" EXACT [DOID:0080122, MONDORULE:4] synonym: "MTDPS4A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:203700] synonym: "neuronal Degeneration of childhood with liver disease, progressive" RELATED [OMIM:203700] synonym: "PNDC" RELATED ABBREVIATION [GARD:0005783] synonym: "Poliodystrophia cerebri progressiva" RELATED [GARD:0005783] synonym: "progressive cerebral poliodystrophy" RELATED [GARD:0005783] synonym: "progressive neuronal degeneration of childhood with liver disease" EXACT [Orphanet:726] synonym: "progressive sclerosing poliodystrophy" EXACT [DOID:1442] xref: DOID:0080122 {source="MONDO:equivalentTo"} xref: DOID:1442 {source="MONDO:equivalentObsolete"} xref: ICD9:330.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10062943 {source="Orphanet:726", source="Orphanet:726/e"} xref: NCIT:C35257 {source="DOID:1442", source="MONDO:equivalentTo"} xref: OMIM:203700 {source="DOID:0080122", source="DOID:1442", source="MONDO:equivalentTo", source="Orphanet:726", source="Orphanet:726/e"} xref: Orphanet:726 {source="MONDO:equivalentTo", source="OMIM:203700"} xref: SCTID:20415001 {source="DOID:1442", source="MONDO:equivalentTo"} xref: UMLS:C0205710 {source="DOID:1442", source="MONDO:equivalentTo", source="Orphanet:726", source="MONDO:ncbi_mim2gene_medline", source="OMIM:203700", source="NCIT:C35257", source="Orphanet:726/e"} is_a: MONDO:0002254 {source="NCIT:C35257"} ! syndromic disease is_a: MONDO:0015653 ! monogenic epilepsy is_a: MONDO:0020127 ! hereditary peripheral neuropathy is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:726"} ! inherited neurodegenerative disorder is_a: MONDO:0100033 ! metabolic epilepsy is_a: MONDO:0100512 {source="Orphanet:726", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial DNA depletion syndrome, hepatocerebral form property_value: closeMatch http://identifiers.org/meddra/10062943 property_value: exactMatch DOID:0080122 property_value: exactMatch http://identifiers.org/snomedct/20415001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205710 property_value: exactMatch https://omim.org/entry/203700 property_value: exactMatch NCIT:C35257 property_value: exactMatch Orphanet:726 [Term] id: MONDO:0008759 name: oxoglutaricaciduria def: "Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder, resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases." [Orphanet:31] subset: ordo_disease {source="Orphanet:31"} synonym: "2 alpha ketoglutarate dehydrogenase deficiency" RELATED [GARD:0000617] synonym: "2-ketoglutarate dehydrogenase deficiency" RELATED [OMIM:203740] synonym: "Alpha KGD deficiency" RELATED [GARD:0000617] synonym: "ALPHA-ketoglutarate dehydrogenase deficiency" RELATED [OMIM:203740] synonym: "Alpha-ketoglutarate dehydrogenase deficiency" EXACT [Orphanet:31] synonym: "Alpha-Kgd deficiency" RELATED [OMIM:203740] synonym: "oxoglutarate dehydrogenase deficiency" EXACT [OMIM:203740, OMIM:genemap2] synonym: "Oxoglutaric aciduria" RELATED [OMIM:203740] xref: DOID:0081326 {source="MONDO:equivalentTo"} xref: MESH:C536582 {source="Orphanet:31", source="MONDO:equivalentTo", source="Orphanet:31/e"} xref: OMIM:203740 {source="Orphanet:31", source="MONDO:equivalentTo", source="Orphanet:31/e"} xref: Orphanet:31 {source="OMIM:203740", source="MONDO:equivalentTo"} xref: SCTID:733630004 {source="MONDO:equivalentTo"} xref: UMLS:C2752074 {source="Orphanet:31", source="OMIM:203740", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:31/e"} is_a: MONDO:0004069 ! inborn mitochondrial metabolism disorder is_a: MONDO:0015653 ! monogenic epilepsy is_a: MONDO:0016790 {source="Orphanet:31"} ! tricarboxylic acid cycle disorder is_a: MONDO:0020127 ! hereditary peripheral neuropathy is_a: MONDO:0100033 ! metabolic epilepsy property_value: exactMatch DOID:0081326 property_value: exactMatch http://identifiers.org/mesh/C536582 property_value: exactMatch http://identifiers.org/snomedct/733630004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2752074 property_value: exactMatch https://omim.org/entry/203740 property_value: exactMatch Orphanet:31 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008760 name: beta-ketothiolase deficiency def: "Beta-ketothiolase (T2) deficiency is a rare organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy or toddlerhood and usually ceasing by adolescence." [Orphanet:134] subset: ordo_disease {source="Orphanet:134"} synonym: "2-Methyl-3-hydroxybutyric acidemia" RELATED [OMIM:203750] synonym: "2-methyl-3-hydroxybutyricacidemia" EXACT [DOID:14723] synonym: "3-ketothiolase deficiency" EXACT [DOID:14723, Orphanet:134] synonym: "3-Ktd deficiency" RELATED [OMIM:203750] synonym: "3-oxothiolase deficiency" EXACT [DOID:14723, OMIM:203750, Orphanet:134] synonym: "Alpha methylacetoacetic aciduria" EXACT [Orphanet:134] synonym: "Alpha-methyl-acetoacetyl-CoA thiolase deficiency" EXACT [Orphanet:134] synonym: "ALPHA-methylacetoacetic aciduria" RELATED [OMIM:203750] synonym: "alpha-methylacetoaceticaciduria" EXACT [DOID:14723] synonym: "Beta ketothiolase deficiency" RELATED [GARD:0000872] synonym: "beta-ketothiolase deficiency" EXACT [OMIM:203750] synonym: "BKT" EXACT ABBREVIATION [NCIT:C98841] synonym: "Mat deficiency" RELATED [OMIM:203750] synonym: "mitochondrial acetoacetyl-CoA thiolase deficiency" EXACT [DOID:14723] synonym: "mitochondrial acetoacetyl-Coa thiolase deficiency" RELATED [OMIM:203750] synonym: "mitochondrial acetoacetyl-coenzyme A thiolase deficiency" EXACT [Orphanet:134] synonym: "peroxisomal thiolase deficiency" EXACT [DOID:14723] synonym: "T2 deficiency" EXACT [OMIM:203750, Orphanet:134] xref: DOID:14723 {source="MONDO:equivalentTo"} xref: MESH:C535434 {source="MONDO:equivalentTo"} xref: NCIT:C98841 {source="MONDO:equivalentTo"} xref: OMIM:203750 {source="DOID:14723", source="Orphanet:134/e", source="MONDO:equivalentTo", source="Orphanet:134"} xref: Orphanet:134 {source="OMIM:203750", source="MONDO:equivalentTo"} xref: UMLS:C1533628 {source="DOID:14723", source="MONDO:relatedTo"} is_a: EFO:1000017 {source="DOID:14723", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0019215 {source="Orphanet:134"} ! classic organic aciduria is_a: MONDO:0019229 {source="Orphanet:134"} ! inborn disorder of ketolysis property_value: exactMatch DOID:14723 property_value: exactMatch http://identifiers.org/mesh/C535434 property_value: exactMatch https://omim.org/entry/203750 property_value: exactMatch NCIT:C98841 property_value: exactMatch Orphanet:134 [Term] id: MONDO:0008762 name: autosomal recessive Alport syndrome def: "Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed." [https://rarediseases.info.nih.gov/diseases/625/autosomal-recessive-alport-syndrome] subset: gard_rare {source="GARD:0000625"} subset: ordo_etiological_subtype {source="Orphanet:88919"} synonym: "Alport syndrome 2, autosomal recessive" EXACT [OMIM:203780, OMIM:genemap2] synonym: "Alport syndrome autosomal recessive" RELATED [GARD:0000625] synonym: "Alport syndrome recessive type" RELATED [GARD:0000625] synonym: "Alport syndrome, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:203780] synonym: "nephropathy and deafness" RELATED [GARD:0000625] xref: DOID:0110033 {source="MONDO:equivalentTo"} xref: MedDRA:10001843 {source="Orphanet:88919/e", source="Orphanet:88919"} xref: OMIM:203780 {source="Orphanet:88919/e", source="MONDO:equivalentTo", source="DOID:0110033", source="Orphanet:88919"} xref: Orphanet:88919 {source="OMIM:203780", source="MONDO:equivalentTo", source="DOID:0110033"} xref: SCTID:717767009 {source="MONDO:equivalentTo"} is_a: EFO:1000017 {source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0018965 {source="DC-OMIM:203780", source="DOID:0110033", source="MONDO:Redundant", source="Orphanet:88919"} ! Alport syndrome property_value: closeMatch http://identifiers.org/meddra/10001843 property_value: exactMatch DOID:0110033 property_value: exactMatch http://identifiers.org/snomedct/717767009 property_value: exactMatch https://omim.org/entry/203780 property_value: exactMatch Orphanet:88919 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/625/autosomal-recessive-alport-syndrome xsd:anyURI {source="GARD:0000625"} [Term] id: MONDO:0008763 name: Alstrom syndrome def: "A multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction." [Orphanet:64] subset: ordo_disease {source="Orphanet:64"} synonym: "ALMS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:203800] synonym: "ALSS" EXACT ABBREVIATION [OMIM:203800] synonym: "Alstrom syndrome" EXACT [MONDO:Lexical, OMIM:203800] synonym: "Alstrom's syndrome" RELATED [GARD:0005787] synonym: "Alström syndrome" EXACT [NCIT:C84549] xref: DOID:0050473 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10068783 {source="Orphanet:64", source="Orphanet:64/e"} xref: MESH:D056769 {source="DOID:0050473", source="Orphanet:64", source="MONDO:equivalentTo", source="Orphanet:64/e"} xref: NCIT:C84549 {source="DOID:0050473", source="MONDO:equivalentTo"} xref: OMIM:203800 {source="DOID:0050473", source="Orphanet:64", source="MONDO:equivalentTo", source="Orphanet:64/e"} xref: Orphanet:64 {source="MONDO:equivalentTo", source="OMIM:203800"} xref: SCTID:63702009 {source="DOID:0050473", source="MONDO:equivalentTo"} xref: UMLS:C0268425 {source="DOID:0050473", source="Orphanet:64", source="NCIT:C84549", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:64/e", source="OMIM:203800"} is_a: EFO:0003900 {source="PMID:16722803", source="PMID:18178628", source="Wikipedia:Ciliopathy"} ! ciliopathy is_a: EFO:1000017 {source="DOID:0050473", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0016565 {source="Orphanet:64"} ! syndromic genetic obesity property_value: closeMatch http://identifiers.org/meddra/10068783 property_value: exactMatch DOID:0050473 property_value: exactMatch http://identifiers.org/mesh/D056769 property_value: exactMatch http://identifiers.org/snomedct/63702009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268425 property_value: exactMatch https://omim.org/entry/203800 property_value: exactMatch NCIT:C84549 property_value: exactMatch Orphanet:64 property_value: excluded_subClassOf MONDO:0005015 {source="Orphanet:64"} property_value: excluded_subClassOf MONDO:0005240 {source="MONDO:0019744-obsoleted"} property_value: excluded_subClassOf MONDO:0015962 {source="Orphanet:64"} property_value: excluded_subClassOf MONDO:0016337 {source="Orphanet:64"} property_value: excluded_subClassOf MONDO:0020240 {source="Orphanet:64"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/324 xsd:anyURI [Term] id: MONDO:0008766 name: amaurosis-hypertrichosis syndrome def: "Amaurosis hypertrichosis is characterized by severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents." [Orphanet:1021] subset: gard_rare subset: ordo_disease {source="Orphanet:1021"} synonym: "amaurosis congenita cone-rod type with congenital hypertrichosis" RELATED [GARD:0000637] synonym: "amaurosis congenita, cone-rod type, with congenital hypertrichosis" RELATED [OMIM:204110] xref: ICD10CM:H35.5 {source="Orphanet:1021", source="Orphanet:1021/attributed", source="Orphanet:1021/ntbt", source="MONDO:directSiblingOf"} xref: MESH:C536604 {source="Orphanet:1021", source="MONDO:equivalentTo", source="Orphanet:1021/e"} xref: OMIM:204110 {source="Orphanet:1021", source="MONDO:equivalentTo", source="Orphanet:1021/e", source="GARD:0000637"} xref: Orphanet:1021 {source="OMIM:204110", source="MONDO:equivalentTo"} xref: SCTID:720983002 {source="MONDO:equivalentTo"} is_a: MONDO:0019118 {source="MESH:C536604/inferred", source="Orphanet:1021"} ! inherited retinal dystrophy property_value: exactMatch http://identifiers.org/mesh/C536604 property_value: exactMatch http://identifiers.org/snomedct/720983002 property_value: exactMatch https://omim.org/entry/204110 property_value: exactMatch Orphanet:1021 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/637/amaurosis-congenita-cone-rod-type-with-congenital-hypertrichosis xsd:anyURI {source="GARD:0000637"} [Term] id: MONDO:0008767 name: neuronal ceroid lipofuscinosis 3 def: "A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." [NCIT:C61258] subset: ordo_etiological_subtype {source="Orphanet:228346"} synonym: "batten disease" RELATED [OMIM:204200] synonym: "ceroid lipofuscinosis, neuronal, 3" RELATED [MONDO:Lexical, OMIM:204200] synonym: "ceroid lipofuscinosis, neuronal, type 3" EXACT [MONDORULE:1, OMIM:204200] synonym: "CLN3" EXACT ABBREVIATION [DOID:0110731, MONDO:Lexical, OMIM:204200] synonym: "CLN3 disease" RELATED [Orphanet:228346] synonym: "CLN3 disease, juvenile" RELATED [GARD:0005897] synonym: "CLN3 neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "neuronal ceroid lipofuscinosis 3" EXACT [] synonym: "neuronal ceroid lipofuscinosis caused by mutation in CLN3" EXACT [MONDO:design_pattern] synonym: "neuronal ceroid lipofuscinosis type 3" EXACT [DOID:0110731, MONDORULE:1] synonym: "neuronal ceroid lipofuscinosis, juvenile" RELATED [OMIM:204200] synonym: "Spielmeyer Sjogren disease" RELATED [GARD:0005897] synonym: "Spielmeyer-Sjogren disease" RELATED [OMIM:204200] synonym: "Vogt Spielmeyer disease" RELATED [GARD:0005897] synonym: "Vogt-Spielmeyer disease" RELATED [OMIM:204200] xref: DOID:0110731 {source="MONDO:equivalentTo"} xref: NCIT:C61258 {source="MONDO:equivalentTo"} xref: OMIM:204200 {source="DOID:0110731", source="Orphanet:228346/e", source="MONDO:equivalentTo", source="Orphanet:228346"} xref: Orphanet:228346 {source="DOID:0110731", source="OMIM:204200", source="MONDO:equivalentTo"} is_a: MONDO:0019262 {source="Orphanet:228346"} ! juvenile neuronal ceroid lipofuscinosis property_value: exactMatch DOID:0110731 property_value: exactMatch https://omim.org/entry/204200 property_value: exactMatch NCIT:C61258 property_value: exactMatch Orphanet:228346 [Term] id: MONDO:0008768 name: ceroid lipofuscinosis, neuronal, 6B (Kufs type) def: "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN6 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_etiological_subtype {source="Orphanet:228340"} synonym: "adult neuronal ceroid lipofuscinosis 4A" RELATED [GARD:0006845] synonym: "autosomal recessive neuronal ceroid lipofuscinosis 4A" EXACT [DOID:0110730] synonym: "ceroid lipofuscinosis, neuronal, 4A, autosomal recessive" RELATED [MONDO:Lexical, OMIM:204300] synonym: "CLN4A" EXACT ABBREVIATION [DOID:0110730, MONDO:Lexical, OMIM:204300] synonym: "CLN4A disease" RELATED [Orphanet:228340] synonym: "CLN6 neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Kuf's disease type A" RELATED [GARD:0006845] synonym: "Kuf's disease, autosomal recessive" RELATED [GARD:0006845] synonym: "neuronal ceroid lipofuscinosis 4A" EXACT [DOID:0110730] synonym: "neuronal ceroid lipofuscinosis caused by mutation in CLN6" EXACT [MONDO:design_pattern] synonym: "neuronal ceroid lipofuscinosis type 4A" EXACT [DOID:0110730, MONDORULE:4] xref: DOID:0110730 {source="MONDO:equivalentTo"} xref: OMIM:204300 {source="MONDO:equivalentTo", source="Orphanet:228340", source="DOID:0110730", source="Orphanet:228340/e"} xref: Orphanet:228340 {source="OMIM:204300", source="MONDO:equivalentTo", source="DOID:0110730"} is_a: MONDO:0019260 {source="Orphanet:228340"} ! adult neuronal ceroid lipofuscinosis property_value: exactMatch DOID:0110730 property_value: exactMatch https://omim.org/entry/204300 property_value: exactMatch Orphanet:228340 [Term] id: MONDO:0008769 name: neuronal ceroid lipofuscinosis 2 def: "A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." [NCIT:C85864] subset: ordo_etiological_subtype {source="Orphanet:228349"} synonym: "ceroid lipofuscinosis, neuronal, 2" RELATED [MONDO:Lexical, OMIM:204500] synonym: "ceroid lipofuscinosis, neuronal, 2, variable Age at onset" RELATED [OMIM:204500] synonym: "ceroid lipofuscinosis, neuronal, type 2" EXACT [MONDORULE:1, OMIM:204500] synonym: "CLN2" EXACT ABBREVIATION [DOID:0110726, MONDO:Lexical, OMIM:204500] synonym: "CLN2 disease" RELATED [Orphanet:228349] synonym: "CLN2 disease, juvenile (subtype)" RELATED [GARD:0003045] synonym: "CLN2 disease, late infantile (subtype)" RELATED [GARD:0003045] synonym: "Jansky-Bielschowsky disease" RELATED [OMIM:204500] synonym: "late infantile neuronal ceroid lipofuscinosis" BROAD [NCIT:C85864] synonym: "neuronal ceroid lipofuscinosis 2 variable age at onset" EXACT [DOID:0110726] synonym: "neuronal ceroid lipofuscinosis caused by mutation in TPP1" EXACT [MONDO:design_pattern] synonym: "neuronal ceroid lipofuscinosis type 2" EXACT [DOID:0110726, MONDORULE:1] synonym: "neuronal ceroid lipofuscinosis, late infantile" RELATED [OMIM:204500] synonym: "TPP1 neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110726 {source="MONDO:equivalentTo"} xref: NCIT:C85864 {source="MONDO:equivalentTo"} xref: OMIM:204500 {source="Orphanet:228349", source="MONDO:equivalentTo", source="DOID:0110726", source="Orphanet:228349/e"} xref: Orphanet:228349 {source="MONDO:equivalentTo", source="DOID:0110726", source="OMIM:204500"} is_a: MONDO:0015674 {source="Orphanet:228349"} ! late infantile neuronal ceroid lipofuscinosis is_a: MONDO:0019262 {source="Orphanet:228349"} ! juvenile neuronal ceroid lipofuscinosis property_value: exactMatch DOID:0110726 property_value: exactMatch https://omim.org/entry/204500 property_value: exactMatch NCIT:C85864 property_value: exactMatch Orphanet:228349 [Term] id: MONDO:0008771 name: amelogenesis imperfecta type 1G def: "An extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure." [Orphanet:1031] subset: ordo_disease {source="Orphanet:171836"} subset: ordo_malformation_syndrome {source="Orphanet:1031"} synonym: "absent enamel, nephrocalcinosis and apparently normal calcium metabolism" RELATED [GARD:0000646] synonym: "AI1G" EXACT ABBREVIATION [DOID:0110066, MONDO:Lexical, OMIM:204690] synonym: "AIGFS" EXACT ABBREVIATION [DOID:0110066] synonym: "amelogenesis imperfecta and gingival fibromatosis syndrome" EXACT [DOID:0110066] synonym: "amelogenesis imperfecta and nephrocalcinosis" RELATED [GARD:0009860] synonym: "amelogenesis imperfecta caused by mutation in FAM20A" EXACT [MONDO:design_pattern] synonym: "amelogenesis imperfecta hypoplastic type, IG" RELATED [GARD:0009860] synonym: "amelogenesis imperfecta hypoplastic with nephrocalcinosis" EXACT [DOID:0110066] synonym: "amelogenesis imperfecta nephrocalcinosis" RELATED [GARD:0000646] synonym: "amelogenesis imperfecta type IG" EXACT [DOID:0110066] synonym: "amelogenesis imperfecta, hypoplastic, with nephrocalcinosis" RELATED [OMIM:204690] synonym: "amelogenesis imperfecta, type IG" RELATED [MONDO:Lexical, OMIM:204690] synonym: "amelogenesis imperfecta, type IG (enamel-renal syndrome)" EXACT [OMIM:204690, OMIM:genemap2] synonym: "amelogenesis imperfecta-gingival hyperplasia syndrome" EXACT [MONDO:0015750] synonym: "amelogenesis imperfecta-nephrocalcinosis syndrome" RELATED [Orphanet:1031] synonym: "enamel renal syndrome" RELATED [GARD:0000646] synonym: "enamel-renal syndrome" EXACT [DOID:0110066, OMIM:204690] synonym: "enamel-renal-gingival syndrome" EXACT [DOID:0110066, OMIM:204690] synonym: "ers" EXACT [DOID:0110066] synonym: "FAM20A amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "generalised enamel hypoplasia and renal dysfunction" RELATED OMO:0003005 [] synonym: "generalized enamel hypoplasia and renal dysfunction" RELATED [GARD:0000646] xref: DOID:0110066 {source="MONDO:equivalentTo"} xref: ICD9:520.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538241 {source="Orphanet:1031/e", source="MONDO:equivalentTo", source="Orphanet:1031"} xref: OMIM:204690 {source="Orphanet:1031/e", source="MONDO:equivalentTo", source="DOID:0110066", source="Orphanet:1031"} xref: OMIM:614253 {source="Orphanet:171836", source="MONDO:equivalentObsolete", source="Orphanet:171836/e"} xref: Orphanet:1031 {source="MONDO:equivalentTo", source="DOID:0110066", source="OMIM:204690"} xref: Orphanet:171836 {source="MONDO:equivalentObsolete"} xref: SCTID:109477002 {source="MONDO:equivalentTo"} xref: UMLS:CN200302 {source="MONDO:equivalentTo"} is_a: MONDO:0019507 {source="DOID:0110066", source="MESH:C538241", source="MONDO:Redundant", source="OMIM:204690", source="Orphanet:171836"} ! amelogenesis imperfecta is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:1031", source="Orphanet:1031/inferred"} ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch DOID:0110066 property_value: exactMatch http://identifiers.org/mesh/C538241 property_value: exactMatch http://identifiers.org/snomedct/109477002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200302 property_value: exactMatch https://omim.org/entry/204690 property_value: exactMatch Orphanet:1031 property_value: excluded_subClassOf MONDO:0019743 {source="Orphanet:1031"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3537 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008774 name: 2-aminoadipic 2-oxoadipic aciduria subset: ordo_disease {source="Orphanet:79154"} synonym: "2-aminoadipic 2-oxoadipic aciduria" EXACT [MONDO:Lexical, OMIM:204750] synonym: "alpha-aminoadipic aciduria" EXACT [Orphanet:79154] synonym: "alpha-aminoadipic and alpha-ketoadipic aciduria" EXACT [OMIM:204750, OMIM:genemap2] synonym: "AMOXAD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:204750] synonym: "Ketoadipicaciduria" EXACT [OMIM:245130] xref: DOID:0111453 {source="MONDO:equivalentTo"} xref: MESH:C565453 {source="MONDO:equivalentTo"} xref: OMIM:204750 {source="Orphanet:79154/e", source="MONDO:equivalentTo", source="Orphanet:79154"} xref: OMIM:245130 {source="MONDO:equivalentObsolete"} xref: Orphanet:79154 {source="OMIM:204750", source="MONDO:equivalentTo"} xref: UMLS:C1855626 {source="OMIM:245130", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0017351 {source="Orphanet:79154"} ! inborn disorder of lysine and hydroxylysine metabolism property_value: exactMatch DOID:0111453 property_value: exactMatch http://identifiers.org/mesh/C565453 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855626 property_value: exactMatch https://omim.org/entry/204750 property_value: exactMatch Orphanet:79154 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3796 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008777 name: gelatinous drop-like corneal dystrophy def: "Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment." [Orphanet:98957] subset: gard_rare subset: ordo_disease {source="Orphanet:98957"} synonym: "amyloid corneal dystrophy, Japanese type" RELATED [GARD:0009647, OMIM:204870] synonym: "amyloidosis corneal" RELATED [GARD:0009647] synonym: "amyloidosis, corneal" RELATED [OMIM:204870] synonym: "CDGDL" RELATED ABBREVIATION [GARD:0009647] synonym: "Cdgdl" RELATED [OMIM:204870] synonym: "corneal amyloidosis" EXACT [DOID:0060449, GARD:0009647] synonym: "corneal dystrophy, gelatinous drop-like" RELATED [GARD:0009647, MONDO:Lexical, OMIM:204870] synonym: "corneal dystrophy, lattice type 3" RELATED [GARD:0009647, OMIM:204870] synonym: "GDCD" EXACT ABBREVIATION [DOID:0060449, Orphanet:98957] synonym: "GDLD" RELATED ABBREVIATION [GARD:0009647, MONDO:Lexical, OMIM:204870] synonym: "gelatinous drop-like corneal dystrophy" EXACT [GARD:0009647] synonym: "lattice corneal dystrophy type 3" RELATED [GARD:0009647] synonym: "lattice corneal dystrophy, type 3" RELATED [OMIM:204870] synonym: "primary familial amyloidosis of the cornea" EXACT [DOID:0060449, Orphanet:98957] synonym: "subepithelial amyloidosis of the cornea" EXACT [DOID:0060449, Orphanet:98957] xref: DOID:0060449 {source="MONDO:equivalentTo"} xref: MESH:C535480 {source="MONDO:equivalentTo", source="Orphanet:98957", source="DOID:0060449", source="Orphanet:98957/e"} xref: NCIT:C142805 {source="MONDO:equivalentTo"} xref: OMIM:204870 {source="GARD:0009647", source="MONDO:equivalentTo", source="Orphanet:98957", source="DOID:0060449", source="Orphanet:98957/e"} xref: Orphanet:98957 {source="GARD:0009647", source="OMIM:204870", source="MONDO:equivalentTo", source="DOID:0060449"} xref: UMLS:C0339273 {source="GARD:0009647", source="OMIM:204870", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:98957", source="DOID:0060449", source="Orphanet:98957/e"} is_a: MONDO:0000763 {source="DOID:0060449"} ! epithelial and subepithelial corneal dystrophy is_a: MONDO:0004686 ! lattice corneal dystrophy is_a: MONDO:0020212 {source="Orphanet:98957"} ! superficial corneal dystrophy property_value: exactMatch DOID:0060449 property_value: exactMatch http://identifiers.org/mesh/C535480 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339273 property_value: exactMatch https://omim.org/entry/204870 property_value: exactMatch NCIT:C142805 property_value: exactMatch Orphanet:98957 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9647/amyloidosis-corneal xsd:anyURI {source="GARD:0009647"} [Term] id: MONDO:0008780 name: amyotrophic lateral sclerosis type 2, juvenile def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ALS2 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0009470"} synonym: "ALS, juvenile" RELATED [OMIM:205100] synonym: "ALS2" EXACT ABBREVIATION [DOID:0060194, MONDO:Lexical, OMIM:205100] synonym: "ALS2 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "amyotrophic lateral sclerosis 2" EXACT [DOID:0060194, OMIM:205100] synonym: "amyotrophic lateral sclerosis 2, juvenile" EXACT [DOID:0060194, MONDO:Lexical, OMIM:205100] synonym: "amyotrophic lateral sclerosis caused by mutation in ALS2" EXACT [MONDO:design_pattern] xref: DOID:0060194 {source="MONDO:equivalentTo"} xref: MESH:C565957 {source="MONDO:equivalentTo"} xref: OMIM:205100 {source="MONDO:equivalentTo", source="DOID:0060194"} is_a: MONDO:0017593 {source="Orphanet:300605/btnt", source="https://rarediseases.info.nih.gov/diseases/11901/juvenile-amyotrophic-lateral-sclerosis"} ! juvenile amyotrophic lateral sclerosis is_a: MONDO:0100227 ! ALS2-related motor neuron disease property_value: exactMatch DOID:0060194 property_value: exactMatch http://identifiers.org/mesh/C565957 property_value: exactMatch https://omim.org/entry/205100 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9470/amyotrophic-lateral-sclerosis-type-2 xsd:anyURI {source="GARD:0009470"} [Term] id: MONDO:0008783 name: Tangier disease def: "Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." [Orphanet:31150] subset: ordo_disease {source="Orphanet:31150"} synonym: "A-alphalipoprotein neuropathy" RELATED [GARD:0007731] synonym: "Alpha high density lipoprotein deficiency disease" RELATED [GARD:0007731] synonym: "Analphalipo-proteinemia" RELATED [GARD:0007731] synonym: "Analphalipoproteinemia" EXACT [OMIM:205400, Orphanet:31150] synonym: "ATP-binding cassette transporter A1 deficiency" EXACT [Orphanet:31150] synonym: "cholesterol thesaurismosis" RELATED [GARD:0007731] synonym: "defective adenosine triphosphate-binding cassette transporter A1" EXACT [Orphanet:31150] synonym: "familial alpha-lipoprotein deficiency" EXACT [DOID:1388] synonym: "familial high density lipoprotein deficiency" EXACT [DOID:1388] synonym: "familial high density lipoprotein deficiency disease" RELATED [GARD:0007731] synonym: "familial Hypoalphalipo-proteinemia" RELATED [GARD:0007731] synonym: "HDL lipoprotein deficiency disease" RELATED [GARD:0007731] synonym: "HDLDT1" RELATED ABBREVIATION [GARD:0007731] synonym: "high density lipoprotein deficiency, Tangier type" RELATED [OMIM:205400] synonym: "high density lipoprotein deficiency, type 1" RELATED [OMIM:205400] synonym: "Tangier disease" EXACT [MONDO:Lexical, OMIM:205400] synonym: "tgd" RELATED [MONDO:Lexical, OMIM:205400] xref: DOID:1388 {source="MONDO:equivalentTo"} xref: MedDRA:10051875 {source="Orphanet:31150/e", source="Orphanet:31150"} xref: MESH:D013631 {source="Orphanet:31150/e", source="DOID:1388", source="MONDO:equivalentTo", source="Orphanet:31150"} xref: NCIT:C85182 {source="DOID:1388", source="MONDO:equivalentTo"} xref: OMIM:205400 {source="Orphanet:31150/e", source="DOID:1388", source="MONDO:equivalentTo", source="Orphanet:31150"} xref: Orphanet:31150 {source="OMIM:205400", source="MONDO:equivalentTo"} xref: SCTID:723579009 {source="MONDO:equivalentTo"} xref: UMLS:C0039292 {source="Orphanet:31150/e", source="DOID:1388", source="NCIT:C85182", source="OMIM:205400", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:31150"} is_a: MONDO:0001822 {source="DOID:1388", source="MESH:D013631/inferred"} ! hypolipoproteinemia is_a: MONDO:0017773 {source="MESH:D013631", source="Orphanet:31150"} ! hypoalphalipoproteinemia property_value: closeMatch http://identifiers.org/meddra/10051875 property_value: exactMatch DOID:1388 property_value: exactMatch http://identifiers.org/mesh/D013631 property_value: exactMatch http://identifiers.org/snomedct/723579009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039292 property_value: exactMatch https://omim.org/entry/205400 property_value: exactMatch NCIT:C85182 property_value: exactMatch Orphanet:31150 property_value: excluded_subClassOf MONDO:0020127 {source="MONDO:0016133-obsoleted", source="MONDO:0016134-obsoleted"} [Term] id: MONDO:0008787 name: microcytic anemia with liver iron overload def: "Congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients." [Orphanet:83642] subset: ordo_disease {source="Orphanet:83642"} synonym: "AHMIO1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:206100] synonym: "anemia, hypochromic microcytic, with iron overload 1" RELATED [MONDO:Lexical, OMIM:206100] synonym: "anemia, hypochromic microcytic, with iron overload type 1" EXACT [MONDORULE:1, OMIM:206100] synonym: "hypochromic microcytic anaemia with iron overload" RELATED OMO:0003005 [] synonym: "hypochromic microcytic anemia with iron overload" RELATED [GARD:0012360] synonym: "microcytic anaemia and hepatic iron overload" RELATED OMO:0003005 [] synonym: "microcytic anemia and hepatic iron overload" RELATED [GARD:0012360] xref: OMIM:206100 {source="Orphanet:83642", source="MONDO:equivalentTo", source="Orphanet:83642/e"} xref: Orphanet:83642 {source="OMIM:206100", source="MONDO:equivalentTo"} xref: SCTID:711161006 {source="MONDO:equivalentTo"} is_a: MONDO:0000104 {source="DC-OMIM:206100", source="OMIM:206100"} ! anemia, hypochromic microcytic with iron overload is_a: MONDO:0016624 ! inherited deficiency anemia is_a: MONDO:0017763 {source="Orphanet:83642"} ! disorder of iron metabolism and transport property_value: exactMatch http://identifiers.org/snomedct/711161006 property_value: exactMatch https://omim.org/entry/206100 property_value: exactMatch Orphanet:83642 [Term] id: MONDO:0008788 name: IRIDA syndrome def: "IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment." [Orphanet:209981] subset: ordo_disease {source="Orphanet:209981"} synonym: "anemia, hypochromic microcytic, with defect in iron metabolism" RELATED [GARD:0010957, OMIM:206200] synonym: "IRIDA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:206200] synonym: "IRIDA syndrome" EXACT [] synonym: "iron-handling disorder, hereditary" RELATED [OMIM:206200] synonym: "iron-refractory iron deficiency anaemia" EXACT OMO:0003005 [] synonym: "iron-refractory iron deficiency anemia" EXACT [MONDO:Lexical, OMIM:206200, Orphanet:209981] synonym: "pseudo-iron-deficiency Anaemia" RELATED OMO:0003005 [] synonym: "pseudo-iron-deficiency Anemia" RELATED [OMIM:206200] xref: MESH:C562385 {source="MONDO:equivalentTo"} xref: OMIM:206200 {source="MONDO:equivalentTo", source="Orphanet:209981", source="Orphanet:209981/e"} xref: Orphanet:209981 {source="OMIM:206200", source="MONDO:equivalentTo"} xref: SCTID:722005000 {source="MONDO:equivalentTo"} is_a: MONDO:0001245 ! microcytic anemia is_a: MONDO:0016624 ! inherited deficiency anemia property_value: exactMatch http://identifiers.org/mesh/C562385 property_value: exactMatch http://identifiers.org/snomedct/722005000 property_value: exactMatch https://omim.org/entry/206200 property_value: exactMatch Orphanet:209981 [Term] id: MONDO:0008791 name: anencephaly 1 def: "Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days." [Orphanet:1048] subset: ordo_morphological_anomaly {source="Orphanet:1048"} synonym: "absence of a large part of the brain and the skull" RELATED [GARD:0005808] synonym: "anencephaly" BROAD [OMIM:206500] synonym: "anencephaly 1" EXACT [OMIM:206500, OMIM:genemap2] synonym: "ANPH" BROAD ABBREVIATION [OMIM:206500] synonym: "isolated anencephaly/exencephaly" EXACT [Orphanet:1048] xref: ICD9:740.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: OMIM:206500 {source="Orphanet:1048", source="MONDO:equivalentTo", source="Orphanet:1048/e"} xref: Orphanet:1048 {source="OMIM:206500", source="MONDO:equivalentTo"} xref: SCTID:89369001 {source="MONDO:equivalentTo"} is_a: MONDO:0000819 {source="OMIM:206500"} ! anencephaly is_a: MONDO:0015159 {source="Orphanet:1048"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0017059 {source="Orphanet:1048"} ! neural tube closure defect property_value: exactMatch http://identifiers.org/snomedct/89369001 property_value: exactMatch https://omim.org/entry/206500 property_value: exactMatch Orphanet:1048 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:1048"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3684 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4616 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0008792 name: familial angiolipomatosis def: "Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder characterized by the presence of benign, usually multiple, subcutaneous tumors composed of adipose tissue and blood vessels, typically manifesting as yellow, firm, circumscribed, 1-4 cm in diameter tumors located in the arms, legs and trunk, with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures), in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously." [Orphanet:199279] subset: ordo_disease {source="Orphanet:199279"} synonym: "angiolipoma Microthromboticum" RELATED [OMIM:206550] synonym: "angiolipomatosis, familial" RELATED [OMIM:206550] xref: MESH:C565951 {source="MONDO:equivalentTo"} xref: OMIM:206550 {source="Orphanet:199279", source="MONDO:equivalentTo", source="Orphanet:199279/e"} xref: Orphanet:199279 {source="MONDO:equivalentTo", source="OMIM:206550"} xref: UMLS:C1859784 {source="Orphanet:199279", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:206550"} is_a: MONDO:0019296 {source="Orphanet:199279"} ! subcutaneous tissue disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0015949"} ! rare property_value: exactMatch http://identifiers.org/mesh/C565951 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859784 property_value: exactMatch https://omim.org/entry/206550 property_value: exactMatch Orphanet:199279 [Term] id: MONDO:0008795 name: aniridia-cerebellar ataxia-intellectual disability syndrome def: "Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability." [Orphanet:1065] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1065"} synonym: "aniridia, cerebellar ataxia and mental deficiency" RELATED [GARD:0000013] synonym: "aniridia, cerebellar ataxia, and intellectual disability" RELATED [OMIM:206700] synonym: "aniridia, cerebellar ataxia, and mental retardation" RELATED DEPRECATED [OMIM:206700] synonym: "GILLESPIE syndrome" RELATED [OMIM:206700] synonym: "Gillespie syndrome" EXACT [OMIM:206700, Orphanet:1065] synonym: "GLSP" RELATED ABBREVIATION [OMIM:206700] xref: DOID:0111578 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536370 {source="MONDO:equivalentTo"} xref: OMIM:206700 {source="Orphanet:1065", source="GARD:0000013", source="MONDO:equivalentTo", source="Orphanet:1065/e"} xref: Orphanet:1065 {source="GARD:0000013", source="MONDO:equivalentTo", source="OMIM:206700"} xref: SCTID:253176002 {source="MONDO:equivalentTo"} xref: UMLS:C0431401 {source="Orphanet:1065", source="GARD:0000013", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:206700", source="Orphanet:1065/e"} is_a: MONDO:0020148 {source="Orphanet:1065"} ! syndromic aniridia property_value: exactMatch DOID:0111578 property_value: exactMatch http://identifiers.org/mesh/C536370 property_value: exactMatch http://identifiers.org/snomedct/253176002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431401 property_value: exactMatch https://omim.org/entry/206700 property_value: exactMatch Orphanet:1065 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:1065", source="https://clinicalgenome.org/affiliation/40060/"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0008796 name: aniridia-renal agenesis-psychomotor retardation syndrome def: "Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974." [Orphanet:1064] subset: ordo_malformation_syndrome {source="Orphanet:1064"} synonym: "aniridia partial with unilateral renal agenesis and psychomotor retardation" RELATED [GARD:0000690] synonym: "aniridia renal agenesis psychomotor retardation" RELATED [GARD:0000690] synonym: "aniridia, partial, with unilateral renal agenesis and psychomotor retardation" RELATED [OMIM:206750] synonym: "Sommer Rathbun Battles syndrome" RELATED [GARD:0000690] synonym: "Sommer-Rathbun-Battles syndrome" EXACT [Orphanet:1064] xref: MESH:C000598722 {source="MONDO:equivalentTo"} xref: OMIM:206750 {source="Orphanet:1064/e", source="MONDO:equivalentTo", source="Orphanet:1064"} xref: Orphanet:1064 {source="OMIM:206750", source="MONDO:equivalentTo"} xref: SCTID:733116005 {source="MONDO:equivalentTo"} xref: UMLS:C1859782 {source="OMIM:206750", source="Orphanet:1064/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1064"} is_a: MONDO:0015159 {source="Orphanet:1064"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020148 {source="Orphanet:1064"} ! syndromic aniridia property_value: exactMatch http://identifiers.org/mesh/C000598722 property_value: exactMatch http://identifiers.org/snomedct/733116005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859782 property_value: exactMatch https://omim.org/entry/206750 property_value: exactMatch Orphanet:1064 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:1064"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0008797 name: anodontia def: "Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth." [Orphanet:99797] subset: gard_rare {source="GARD:0005818"} subset: ordo_morphological_anomaly {source="Orphanet:99797"} synonym: "absence of permanent teeth" RELATED [GARD:0005818] synonym: "anodontia of permanent dentition" RELATED [OMIM:206780] synonym: "complete absence of teeth" EXACT [DOID:13714] synonym: "developmental absence of tooth" EXACT [DOID:13714] synonym: "teeth, permanent, absence of" RELATED [OMIM:206780] synonym: "total anodontia of permanent and deciduous teeth" EXACT [DOID:13714] xref: DOID:13714 {source="MONDO:equivalentTo"} xref: ICD10CM:K00.0 {source="Orphanet:99797", source="DOID:13714", source="MONDO:equivalentTo", source="Orphanet:99797/e", source="Orphanet:99797/specific"} xref: ICD9:520.0 {source="DOID:13714"} xref: MedDRA:10002583 {source="Orphanet:99797", source="Orphanet:99797/e"} xref: MESH:D000848 {source="Orphanet:99797", source="DOID:13714", source="MONDO:equivalentTo", source="Orphanet:99797/e"} xref: OMIM:206780 {source="Orphanet:99797", source="DOID:13714", source="MONDO:equivalentTo", source="Orphanet:99797/e"} xref: Orphanet:99797 {source="MONDO:equivalentTo", source="OMIM:206780"} xref: SCTID:16958000 {source="DOID:13714", source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="Orphanet:99797/inferred"} ! genetic disorder is_a: EFO:1001216 {source="DOID:13714", source="MESH:D000848/inferred"} ! tooth disease property_value: closeMatch http://identifiers.org/meddra/10002583 property_value: exactMatch DOID:13714 property_value: exactMatch http://identifiers.org/mesh/D000848 property_value: exactMatch http://identifiers.org/snomedct/16958000 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K00.0 property_value: exactMatch https://omim.org/entry/206780 property_value: exactMatch Orphanet:99797 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5818/anodontia xsd:anyURI {source="GARD:0005818"} [Term] id: MONDO:0008798 name: nonsyndromic congenital nail disorder 4 def: "Any isolated congenital anonychia in which the cause of the disease is a mutation in the RSPO4 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_clinical_subtype {source="Orphanet:94150"} synonym: "anonychia congenita" RELATED [DOID:0050643] synonym: "anonychia congenita totalis" RELATED [Orphanet:94150] synonym: "anonychia totalis" RELATED [OMIM:206800] synonym: "anonychia/hyponychia congenita" RELATED [OMIM:206800] synonym: "HYPONYCHIA congenita" EXACT [DOID:0050643] synonym: "isolated congenital anonychia caused by mutation in RSPO4" EXACT [MONDO:design_pattern] synonym: "nail disorder, nonsyndromic congenital, 4" RELATED [MONDO:Lexical, OMIM:206800] synonym: "nail disorder, nonsyndromic congenital, type 4" EXACT [MONDORULE:1, OMIM:206800] synonym: "NDNC4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:206800] synonym: "nonsyndromic congenital nail disorder 4" EXACT [] synonym: "nonsyndromic congenital nail disorder type 4" EXACT [DOID:0080082, MONDORULE:1] synonym: "RSPO4 isolated congenital anonychia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0050643 {source="MONDO:equivalentObsolete"} xref: DOID:0080082 {source="MONDO:equivalentTo"} xref: MESH:C536377 {source="MONDO:equivalentTo"} xref: OMIM:206800 {source="Orphanet:94150/e", source="DOID:0050643", source="MONDO:equivalentTo", source="DOID:0080082", source="Orphanet:94150"} xref: Orphanet:94150 {source="MONDO:equivalentTo", source="OMIM:206800"} is_a: MONDO:0019211 {source="MONDO:Redundant", source="Orphanet:94150"} ! isolated congenital anonychia property_value: exactMatch DOID:0080082 property_value: exactMatch http://identifiers.org/mesh/C536377 property_value: exactMatch https://omim.org/entry/206800 property_value: exactMatch Orphanet:94150 [Term] id: MONDO:0008799 name: anophthalmia/microphthalmia-esophageal atresia syndrome def: "Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." [Orphanet:77298] subset: ordo_malformation_syndrome {source="Orphanet:77298"} synonym: "Aeg syndrome" RELATED [OMIM:206900] synonym: "anophthalmia clinical with associated anomalies" RELATED [GARD:0001443] synonym: "anophthalmia esophageal genital syndrome" RELATED [GARD:0001443] synonym: "anophthalmia microphthalmia esophageal atresia" RELATED [GARD:0001443] synonym: "anophthalmia, clinical, with associated anomalies" RELATED [OMIM:206900] synonym: "anophthalmia-esophageal-genital syndrome" RELATED [OMIM:206900] synonym: "anophthalmia/microphthalmia-esophageal atresia syndrome" EXACT [] synonym: "MCOPS3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:206900, Orphanet:77298] synonym: "microphthalmia and esophageal atresia syndrome" RELATED [OMIM:206900] synonym: "microphthalmia, syndromic 3" RELATED [MONDO:Lexical, OMIM:206900] synonym: "microphthalmia, syndromic type 3" EXACT [MONDORULE:1, OMIM:206900] synonym: "optic nerve hypoplasia and abnormalities of the central nervous system" RELATED [OMIM:206900] synonym: "SOX2 anophthalmia syndrome" RELATED [GARD:0001443] synonym: "SOX2-related eye disorders" RELATED [GARD:0001443] synonym: "syndromic microphthalmia type 3" EXACT [Orphanet:77298] synonym: "syndromic microphthalmia, type 3" RELATED [GARD:0001443] xref: DOID:0111801 {source="MONDO:equivalentTo"} xref: ICD9:758.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:206900 {source="Orphanet:77298/e", source="MONDO:equivalentTo", source="Orphanet:77298"} xref: Orphanet:77298 {source="MONDO:equivalentTo", source="OMIM:206900"} xref: SCTID:698851003 {source="MONDO:equivalentTo"} is_a: MONDO:0015160 {source="Orphanet:77298"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0015208 {source="Orphanet:77298"} ! syndromic esophageal malformation is_a: MONDO:0016073 {source="DC-OMIM:206900", source="OMIM:206900", source="Orphanet:77298"} ! syndromic microphthalmia is_a: MONDO:0018762 ! non-acquired combined pituitary hormone deficiency property_value: exactMatch DOID:0111801 property_value: exactMatch http://identifiers.org/snomedct/698851003 property_value: exactMatch https://omim.org/entry/206900 property_value: exactMatch Orphanet:77298 [Term] id: MONDO:0008800 name: microphthalmia with limb anomalies def: "Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly." [Orphanet:1106] subset: ordo_malformation_syndrome {source="Orphanet:1106"} synonym: "anophthalmia Waardenburg syndrome" RELATED [GARD:0000722] synonym: "anophthalmia-syndactyly" RELATED [OMIM:206920] synonym: "anophthalmia-syndactyly syndrome" EXACT [DOID:0060861, Orphanet:1106] synonym: "anophthalmos with limb anomalies" RELATED [GARD:0000722] synonym: "anophthalmos-syndactyly" RELATED [GARD:0000722] synonym: "microphthalmia with limb anomalies" EXACT [MONDO:Lexical, OMIM:206920] synonym: "MLA" EXACT ABBREVIATION [DOID:0060861, MONDO:Lexical, OMIM:206920] synonym: "OAS" EXACT ABBREVIATION [DOID:0060861, Orphanet:1106] synonym: "Ophthalmoacromelic syndrome" EXACT [OMIM:206920, Orphanet:1106] synonym: "ophthalmoacromelic syndrome" EXACT [DOID:0060861] synonym: "Waardenburg anophthalmia syndrome" EXACT [DOID:0060861, OMIM:206920, Orphanet:1106] xref: DOID:0060861 {source="MONDO:equivalentTo"} xref: ICD9:755.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537769 {source="MONDO:equivalentTo"} xref: OMIM:206920 {source="DOID:0060861", source="MONDO:equivalentTo", source="Orphanet:1106", source="Orphanet:1106/e"} xref: Orphanet:1106 {source="DOID:0060861", source="MONDO:equivalentTo", source="OMIM:206920"} xref: SCTID:703403003 {source="MONDO:equivalentTo"} is_a: EFO:1000017 {source="DOID:0060861", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015160 {source="Orphanet:1106"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome property_value: exactMatch DOID:0060861 property_value: exactMatch http://identifiers.org/mesh/C537769 property_value: exactMatch http://identifiers.org/snomedct/703403003 property_value: exactMatch https://omim.org/entry/206920 property_value: exactMatch Orphanet:1106 [Term] id: MONDO:0008803 name: Antley-Bixler syndrome def: "Antley-Bixler syndrome is a very rare disorder characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures." [Orphanet:83] subset: gard_rare {source="GARD:0005826"} subset: ordo_malformation_syndrome {source="Orphanet:83"} synonym: "Antley Bixler syndrome" RELATED [GARD:0005826] synonym: "multisynostotic osteodysgenesis with long bone fractures" RELATED [OMIM:207410] synonym: "osteodysgenesis, multisynostotic with fractures" RELATED [GARD:0005826] synonym: "osteodysgenesis, multisynostotic, with fractures" RELATED [OMIM:207410] synonym: "trapezoidocephaly synostosis syndrome" RELATED [GARD:0005826] synonym: "trapezoidocephaly-synostosis syndrome" EXACT [DOID:0050462, OMIM:207410] xref: DOID:0050462 {source="MONDO:equivalentTo"} xref: DOID:0081289 {source="MONDO:equivalentTo"} xref: Orphanet:83 {source="OMIM:207410", source="MONDO:equivalentTo"} xref: SCTID:62964007 {source="DOID:0050462", source="MONDO:equivalentTo"} is_a: MONDO:0011679 ! craniosynostosis syndrome, autosomal recessive is_a: MONDO:0015160 {source="Orphanet:83"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0015338 {source="Orphanet:83"} ! syndromic craniosynostosis property_value: exactMatch DOID:0050462 property_value: exactMatch DOID:0081289 property_value: exactMatch http://identifiers.org/snomedct/62964007 property_value: exactMatch Orphanet:83 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5826/antley-bixler-syndrome xsd:anyURI {source="GARD:0005826"} [Term] id: MONDO:0008806 name: Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome def: "Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis is an extremely rare congenital limb malformation syndrome, described in only 3 patients to date, and characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991." [Orphanet:1112] subset: ordo_malformation_syndrome {source="Orphanet:1112"} synonym: "Aphalangy of the hands and feet, hemivertebrae, and visceral malformations" RELATED [GARD:0003051] synonym: "APHALANGY with hemivertebrae" RELATED [OMIM:207620] synonym: "Johnson Munson syndrome" RELATED [GARD:0003051] synonym: "Johnson-Munson syndrome" EXACT [Orphanet:1112] xref: MESH:C535881 {source="Orphanet:1112", source="MONDO:equivalentTo", source="Orphanet:1112/e"} xref: OMIM:207620 {source="Orphanet:1112", source="MONDO:equivalentTo", source="Orphanet:1112/e"} xref: Orphanet:1112 {source="OMIM:207620", source="MONDO:equivalentTo"} xref: SCTID:733118006 {source="MONDO:equivalentTo"} xref: UMLS:C1859754 {source="Orphanet:1112", source="OMIM:207620", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1112/e"} is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation property_value: exactMatch http://identifiers.org/mesh/C535881 property_value: exactMatch http://identifiers.org/snomedct/733118006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859754 property_value: exactMatch https://omim.org/entry/207620 property_value: exactMatch Orphanet:1112 [Term] id: MONDO:0008808 name: aplasia cutis congenita-intestinal lymphangiectasia syndrome def: "Aplasia cutis congenita - intestinal lymphangiectasia is an extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985." [Orphanet:1116] subset: ordo_disease {source="Orphanet:1116"} synonym: "ACC with intestinal lymphangiectasia" RELATED [OMIM:207731] synonym: "aplasia cutis congenita intestinal lymphangiectasia" RELATED [GARD:0000753] synonym: "aplasia cutis congenita with intestinal lymphangiectasia" RELATED [OMIM:207731] synonym: "autosomal recessive aplasia cutis" EXACT [Orphanet:1116] synonym: "Bronspiegel-Zelnick syndrome" EXACT [Orphanet:1116] xref: MESH:C537788 {source="MONDO:equivalentTo", source="Orphanet:1116", source="Orphanet:1116/e"} xref: OMIM:207731 {source="MONDO:equivalentTo", source="Orphanet:1116", source="Orphanet:1116/e"} xref: Orphanet:1116 {source="OMIM:207731", source="MONDO:equivalentTo"} xref: SCTID:720500008 {source="MONDO:equivalentTo"} is_a: EFO:0009431 {source="Orphanet:1116"} ! intestinal disease is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema is_a: MONDO:0019294 {source="Orphanet:1116"} ! mixed dermis disorder is_a: MONDO:0019520 {source="Orphanet:1116"} ! syndromic lymphedema property_value: exactMatch http://identifiers.org/mesh/C537788 property_value: exactMatch http://identifiers.org/snomedct/720500008 property_value: exactMatch https://omim.org/entry/207731 property_value: exactMatch Orphanet:1116 [Term] id: MONDO:0008809 name: polyneuropathy-hand defect syndrome def: "Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986." [Orphanet:2926] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2926"} synonym: "aplasia of extensor muscles of fingers, unilateral, with generalised polyneuropathy" RELATED OMO:0003005 [] synonym: "aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy" RELATED [OMIM:207740] synonym: "congenital aplasia of the extensor muscles of the fingers and thumb associated with generalised polyneuropathy" RELATED OMO:0003005 [] synonym: "congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy" RELATED [GARD:0002589, MESH:C535624] synonym: "digital extensor muscle aplasia-polyneuropathy" RELATED [Orphanet:2926] synonym: "Hamanishi Ueba Tsuji syndrome" EXACT [GARD:0002589] synonym: "Hamanishi-Ueba-Tsuji syndrome" EXACT [MONDO:0023303, Orphanet:2926] synonym: "polyneuropathy, hand defect" RELATED [GARD:0002589] xref: MESH:C535624 {source="MONDO:equivalentTo"} xref: OMIM:207740 {source="Orphanet:2926/e", source="GARD:0002589", source="MONDO:equivalentTo", source="Orphanet:2926"} xref: Orphanet:2926 {source="OMIM:207740", source="GARD:0002589", source="MONDO:equivalentTo"} xref: UMLS:C2930955 {source="GARD:0002589", source="MONDO:equivalentTo", source="Orphanet:2926"} is_a: MONDO:0015358 {source="Orphanet:2926"} ! hereditary motor and sensory neuropathy is_a: MONDO:0015364 {source="MESH:C535624"} ! hereditary sensory and autonomic neuropathy property_value: exactMatch http://identifiers.org/mesh/C535624 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930955 property_value: exactMatch https://omim.org/entry/207740 property_value: exactMatch Orphanet:2926 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2589/hamanishi-ueba-tsuji-syndrome xsd:anyURI {source="GARD:0002589"} [Term] id: MONDO:0008810 name: familial apolipoprotein C-II deficiency subset: ordo_clinical_subtype {source="Orphanet:309020"} synonym: "Apoc2 deficiency" RELATED [OMIM:207750] synonym: "apolipoprotein C-II deficiency" RELATED [OMIM:207750] synonym: "C-II Anapolipoproteinemia" RELATED [OMIM:207750] synonym: "familial apoC-II deficiency" EXACT [Orphanet:309020] synonym: "familial apolipoprotein C-II deficiency" EXACT [] synonym: "hyperlipoproteinemia, type 1B" RELATED [OMIM:207750] synonym: "hyperlipoproteinemia, type IB" EXACT [GARD:0000759, https://orcid.org/0000-0001-5208-3432] xref: DOID:0111418 {source="MONDO:equivalentTo"} xref: OMIM:207750 {source="Orphanet:309020", source="MONDO:equivalentTo", source="Orphanet:309020/e"} xref: Orphanet:309020 {source="OMIM:207750", source="MONDO:equivalentTo"} xref: SCTID:33513003 {source="MONDO:equivalentTo"} xref: UMLS:C0268199 {source="Orphanet:309020", source="MONDO:equivalentTo", source="Orphanet:309020/e"} xref: UMLS:C1720779 {source="OMIM:207750", source="Orphanet:309020", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0001336 {source="DC-OMIM:207750", source="MONDO:indirect"} ! familial hyperlipidemia is_a: MONDO:0018637 {source="Orphanet:309020"} ! familial chylomicronemia syndrome property_value: exactMatch DOID:0111418 property_value: exactMatch http://identifiers.org/snomedct/33513003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268199 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1720779 property_value: exactMatch https://omim.org/entry/207750 property_value: exactMatch Orphanet:309020 [Term] id: MONDO:0008812 name: AREDYLD syndrome def: "AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait." [Orphanet:1133] subset: ordo_malformation_syndrome {source="Orphanet:1133"} synonym: "acral renal ectodermal dysplasia lipoatrophic diabetes" RELATED [GARD:0008509] synonym: "acrorenal defect-ectodermal dysplasia-diabetes syndrome" EXACT [Orphanet:1133] synonym: "acrorenal Field defect, ectodermal dysplasia, and lipoatrophic diabetes" RELATED [OMIM:207780] synonym: "AREDYLD" RELATED ABBREVIATION [OMIM:207780] xref: ICD9:753.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537427 {source="Orphanet:1133", source="MONDO:equivalentTo", source="Orphanet:1133/e"} xref: OMIM:207780 {source="Orphanet:1133", source="MONDO:equivalentTo", source="Orphanet:1133/e"} xref: Orphanet:1133 {source="MONDO:equivalentTo", source="OMIM:207780"} xref: SCTID:237610008 {source="MONDO:equivalentTo"} xref: UMLS:C0342280 {source="Orphanet:1133", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1133/e", source="OMIM:207780"} is_a: MONDO:0019287 {source="MESH:C537427", source="Orphanet:1133"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C537427 property_value: exactMatch http://identifiers.org/snomedct/237610008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342280 property_value: exactMatch https://omim.org/entry/207780 property_value: exactMatch Orphanet:1133 property_value: excluded_subClassOf MONDO:0005015 {source="MONDO:0015888-obsoleted", source="MONDO:Redundant", source="Orphanet:1133"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5723 xsd:anyURI [Term] id: MONDO:0008813 name: arachnoid cyst def: "Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with hydrocephalus; headache; seizures; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115)" [MESH:D016080] subset: gard_rare subset: ordo_morphological_anomaly {source="Orphanet:2356"} synonym: "arachnoid cysts" RELATED [GARD:0000017] xref: MedDRA:10049005 {source="Orphanet:2356", source="Orphanet:2356/e"} xref: MESH:D016080 {source="Orphanet:2356", source="MONDO:equivalentTo", source="Orphanet:2356/e"} xref: NCIT:C3455 {source="MONDO:equivalentTo"} xref: Orphanet:2356 {source="GARD:0000017", source="MONDO:equivalentTo", source="OMIM:207790"} xref: SCTID:33595009 {source="MONDO:equivalentTo"} xref: UMLS:C0078981 {source="Orphanet:2356", source="MONDO:equivalentTo", source="Orphanet:2356/e"} is_a: MONDO:0017104 {source="Orphanet:2356"} ! central nervous system cystic malformation property_value: closeMatch http://identifiers.org/meddra/10049005 property_value: exactMatch http://identifiers.org/mesh/D016080 property_value: exactMatch http://identifiers.org/snomedct/33595009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0078981 property_value: exactMatch NCIT:C3455 property_value: exactMatch Orphanet:2356 property_value: excluded_subClassOf MONDO:0015960 {source="MONDO:Entailed", source="Orphanet:2356", source="Orphanet:2356/inferred"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/17/arachnoid-cysts xsd:anyURI [Term] id: MONDO:0008814 name: hyperargininemia def: "Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment." [Orphanet:90] subset: ordo_disease {source="Orphanet:90"} synonym: "Arg1 deficiency" RELATED [OMIM:207800] synonym: "arginase deficiency" EXACT [OMIM:207800, Orphanet:90] synonym: "argininemia" EXACT [DOID:9278] synonym: "deficiency of canavanase" EXACT [DOID:9278] synonym: "hyperargininemia" EXACT [OMIM:207800, Orphanet:90] xref: DOID:9278 {source="MONDO:equivalentTo"} xref: MedDRA:10062695 {source="Orphanet:90", source="Orphanet:90/e"} xref: MESH:D020162 {source="MONDO:equivalentTo", source="Orphanet:90", source="DOID:9278", source="Orphanet:90/e"} xref: NCIT:C84568 {source="MONDO:equivalentTo", source="DOID:9278"} xref: OMIM:207800 {source="MONDO:equivalentTo", source="Orphanet:90", source="DOID:9278", source="Orphanet:90/e"} xref: Orphanet:90 {source="MONDO:equivalentTo", source="OMIM:207800"} xref: SCTID:23501004 {source="MONDO:equivalentTo", source="DOID:9278"} xref: UMLS:C0268548 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:207800", source="Orphanet:90", source="DOID:9278", source="Orphanet:90/e"} is_a: MONDO:0800153 {source="PMID:33340416"} ! urea cycle disorder or inherited hyperammonemia property_value: closeMatch http://identifiers.org/meddra/10062695 property_value: exactMatch DOID:9278 property_value: exactMatch http://identifiers.org/mesh/D020162 property_value: exactMatch http://identifiers.org/snomedct/23501004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268548 property_value: exactMatch https://omim.org/entry/207800 property_value: exactMatch NCIT:C84568 property_value: exactMatch Orphanet:90 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0008815 name: argininosuccinic aciduria def: "Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction." [Orphanet:23] subset: gard_rare {source="GARD:0005843"} subset: ordo_disease {source="Orphanet:23"} synonym: "arginino succinase deficiency" RELATED [GARD:0005843] synonym: "argininosuccinase deficiency" EXACT [OMIM:207900, Orphanet:23] synonym: "argininosuccinate acidemia" RELATED [GARD:0005843] synonym: "argininosuccinate lyase deficiency" RELATED [OMIM:207900] synonym: "argininosuccinatelyase deficiency" EXACT [Orphanet:23] synonym: "argininosuccinic acid lyase deficiency" EXACT [OMIM:207900, Orphanet:23] synonym: "argininosuccinic acidemia" EXACT [DOID:14755] synonym: "argininosuccinic aciduria" EXACT [OMIM:207900] synonym: "argininosuccinicaciduria" RELATED [GARD:0005843] synonym: "arginosuccinase deficiency" EXACT [DOID:14755] synonym: "ASA deficiency" EXACT [Orphanet:23] synonym: "ASL deficiency" EXACT [OMIM:207900, Orphanet:23] synonym: "deficiency of argininosuccinate lyase" EXACT [DOID:14755] synonym: "inborn error of urea synthesis, arginino succinic type" RELATED [GARD:0005843] synonym: "urea cycle disorder, arginino succinase type" RELATED [GARD:0005843] xref: DOID:14755 {source="MONDO:equivalentTo"} xref: MedDRA:10058299 {source="Orphanet:23", source="Orphanet:23/e"} xref: MESH:D056807 {source="Orphanet:23", source="MONDO:equivalentTo", source="Orphanet:23/e", source="DOID:14755"} xref: NCIT:C84569 {source="MONDO:equivalentTo", source="DOID:14755"} xref: OMIM:207900 {source="Orphanet:23", source="MONDO:equivalentTo", source="Orphanet:23/e", source="DOID:14755"} xref: Orphanet:23 {source="MONDO:equivalentTo", source="OMIM:207900"} xref: SCTID:41013004 {source="MONDO:equivalentTo", source="DOID:14755"} xref: UMLS:C0268547 {source="Orphanet:23", source="NCIT:C84569", source="MONDO:equivalentTo", source="OMIM:207900", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:23/e", source="DOID:14755"} is_a: MONDO:0037871 {source="DOID:14755", source="https://github.com/monarch-initiative/mondo/issues/1492"} ! amino acid metabolism disease is_a: MONDO:0800153 {source="PMID:33340416"} ! urea cycle disorder or inherited hyperammonemia property_value: closeMatch http://identifiers.org/meddra/10058299 property_value: exactMatch DOID:14755 property_value: exactMatch http://identifiers.org/mesh/D056807 property_value: exactMatch http://identifiers.org/snomedct/41013004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268547 property_value: exactMatch https://omim.org/entry/207900 property_value: exactMatch NCIT:C84569 property_value: exactMatch Orphanet:23 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5843/argininosuccinic-aciduria xsd:anyURI {source="GARD:0005843"} [Term] id: MONDO:0008816 name: Chiari malformation type II def: "Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache." [Orphanet:1136] subset: ordo_morphological_anomaly {source="Orphanet:1136"} synonym: "Arnold Chiari malformation type II" RELATED [GARD:0009232] synonym: "Arnold-Chiari malformation" RELATED [OMIM:207950] synonym: "Arnold-Chiari malformation type 2" EXACT [Orphanet:1136] synonym: "Arnold-Chiari malformation type II" EXACT [Orphanet:1136] synonym: "Chiari malformation type 2" EXACT [Orphanet:1136] synonym: "Chiari malformation type II" EXACT [OMIM:207950, Orphanet:1136] synonym: "Chiari type II malformation" RELATED [GARD:0009232] synonym: "Cm2" RELATED [OMIM:207950] xref: MedDRA:10056945 {source="Orphanet:1136", source="Orphanet:1136/e"} xref: OMIM:207950 {source="Orphanet:1136", source="MONDO:equivalentTo", source="Orphanet:1136/e"} xref: Orphanet:1136 {source="OMIM:207950", source="MONDO:equivalentTo"} xref: SCTID:373587001 {source="MONDO:equivalentTo"} is_a: MONDO:0000115 {source="DC-OMIM:207950"} ! Chiari malformation is_a: MONDO:0017069 {source="Orphanet:1136"} ! spina bifida cystica property_value: closeMatch http://identifiers.org/meddra/10056945 property_value: exactMatch http://identifiers.org/snomedct/373587001 property_value: exactMatch https://omim.org/entry/207950 property_value: exactMatch Orphanet:1136 [Term] id: MONDO:0008818 name: arterial tortuosity syndrome def: "Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." [Orphanet:3342] subset: ordo_malformation_syndrome {source="Orphanet:3342"} synonym: "arterial tortuosity" RELATED [OMIM:208050] synonym: "arterial tortuosity syndrome" EXACT [MONDO:Lexical, OMIM:208050] synonym: "ATS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:208050, Orphanet:3342] xref: DOID:0050645 {source="MONDO:equivalentTo"} xref: ICD10CM:Q87.82 {source="MONDO:equivalentTo"} xref: MESH:C565942 {source="MONDO:equivalentTo"} xref: OMIM:208050 {source="Orphanet:3342", source="DOID:0050645", source="MONDO:equivalentTo", source="Orphanet:3342/e"} xref: Orphanet:3342 {source="MONDO:equivalentTo", source="OMIM:208050"} xref: SCTID:458432002 {source="MONDO:equivalentTo"} xref: UMLS:C1859726 {source="Orphanet:3342", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:208050"} is_a: EFO:0004264 ! vascular disease is_a: MONDO:0023603 ! hereditary disorder of connective tissue is_a: MONDO:0100237 {source="Orphanet:3342"} ! inherited cutis laxa property_value: exactMatch DOID:0050645 property_value: exactMatch http://identifiers.org/mesh/C565942 property_value: exactMatch http://identifiers.org/snomedct/458432002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859726 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q87.82 property_value: exactMatch https://omim.org/entry/208050 property_value: exactMatch Orphanet:3342 [Term] id: MONDO:0008823 name: arthrogryposis multiplex congenita 2, neurogenic type def: "Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy." [Orphanet:1143] subset: ordo_disease {source="Orphanet:1143"} synonym: "AMC neurogenic type" EXACT [DOID:0090124] synonym: "AMC, neurogenic type" RELATED [OMIM:208100] synonym: "AMCN" EXACT ABBREVIATION [DOID:0090124, MONDO:Lexical, OMIM:208100] synonym: "arthrogryposis multiplex congenita neurogenic type" EXACT [DOID:0090124] synonym: "arthrogryposis multiplex congenita, neurogenic type" RELATED [MONDO:Lexical, OMIM:208100] synonym: "neurogenic arthrogryposis multiplex congenita" EXACT [Orphanet:1143] synonym: "neurogenic type of AMC" RELATED [GARD:0000790] xref: DOID:0090124 {source="MONDO:equivalentTo"} xref: MESH:C536614 {source="Orphanet:1143", source="DOID:0090124", source="MONDO:equivalentTo", source="Orphanet:1143/e"} xref: OMIM:208100 {source="Orphanet:1143", source="DOID:0090124", source="MONDO:equivalentTo", source="Orphanet:1143/e"} xref: Orphanet:1143 {source="DOID:0090124", source="MONDO:equivalentTo", source="OMIM:208100"} xref: SCTID:715316005 {source="MONDO:equivalentTo"} xref: UMLS:C1859721 {source="Orphanet:1143", source="DOID:0090124", source="MONDO:equivalentTo", source="Orphanet:1143/e", source="MONDO:ncbi_mim2gene_medline", source="OMIM:208100"} is_a: MONDO:0015168 {source="Orphanet:1143"} ! arthrogryposis multiplex congenita property_value: exactMatch DOID:0090124 property_value: exactMatch http://identifiers.org/mesh/C536614 property_value: exactMatch http://identifiers.org/snomedct/715316005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859721 property_value: exactMatch https://omim.org/entry/208100 property_value: exactMatch Orphanet:1143 [Term] id: MONDO:0008824 name: fetal akinesia deformation sequence def: "Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the RAPSN or DOK7 genes." [https://rarediseases.info.nih.gov/diseases/9634/fetal-akinesia-deformation-sequence] subset: gard_rare {source="GARD:0009634"} subset: ordo_malformation_syndrome {source="Orphanet:994"} synonym: "arthrogryposis multiplex congenita with pulmonary hypoplasia" RELATED [OMIM:208150] synonym: "arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome" EXACT [Orphanet:994] synonym: "FADS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:208150, Orphanet:994] synonym: "fetal akinesia deformation sequence" EXACT [MONDO:Lexical, OMIM:208150] synonym: "fetal akinesia sequence" RELATED [OMIM:208150] synonym: "foetal akinesia sequence" RELATED OMO:0003005 [] xref: DOID:0111375 {source="MONDO:equivalentTo"} xref: ICD9:754.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536647 {source="MONDO:equivalentTo"} xref: NCIT:C129071 {source="MONDO:equivalentTo"} xref: OMIMPS:208150 {source="MONDO:equivalentTo"} xref: SCTID:401138005 {source="MONDO:equivalentTo"} is_a: MONDO:0015161 {source="Orphanet:994"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015168 {source="Orphanet:994"} ! arthrogryposis multiplex congenita is_a: MONDO:0015222 {source="MONDO:Redundant", source="Orphanet:994"} ! syndromic respiratory or mediastinal malformation is_a: MONDO:0015929 {source="Orphanet:994"} ! thoracic malformation property_value: exactMatch DOID:0111375 property_value: exactMatch http://identifiers.org/mesh/C536647 property_value: exactMatch http://identifiers.org/snomedct/401138005 property_value: exactMatch https://omim.org/phenotypicSeries/PS208150 property_value: exactMatch NCIT:C129071 property_value: excluded_subClassOf MONDO:0015221 {source="Orphanet:994"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9634/fetal-akinesia-deformation-sequence xsd:anyURI {source="GARD:0009634"} [Term] id: MONDO:0008825 name: arthrogryposis multiplex congenita-whistling face syndrome def: "Arthrogryposis multiplex congenita-whistling face syndrome is an extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence." [Orphanet:1150] subset: ordo_malformation_syndrome {source="Orphanet:1150"} synonym: "arthrogryposis multiplex congenita whistling face" RELATED [GARD:0000792] synonym: "arthrogryposis, whistling face, and developintellectual disability" RELATED [OMIM:208155] synonym: "arthrogryposis, whistling face, and developmental retardation" RELATED DEPRECATED [OMIM:208155] synonym: "ILLUM syndrome" RELATED [OMIM:208155] synonym: "Illum syndrome" EXACT [Orphanet:1150] synonym: "lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system" RELATED [GARD:0000792] xref: MESH:C538401 {source="Orphanet:1150/e", source="MONDO:equivalentTo", source="Orphanet:1150"} xref: OMIM:208155 {source="Orphanet:1150/e", source="MONDO:equivalentTo", source="Orphanet:1150"} xref: Orphanet:1150 {source="MONDO:equivalentTo", source="OMIM:208155"} xref: SCTID:720514008 {source="MONDO:equivalentTo"} xref: UMLS:C1859711 {source="Orphanet:1150/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1150", source="OMIM:208155"} is_a: MONDO:0015168 {source="Orphanet:1150"} ! arthrogryposis multiplex congenita property_value: exactMatch http://identifiers.org/mesh/C538401 property_value: exactMatch http://identifiers.org/snomedct/720514008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859711 property_value: exactMatch https://omim.org/entry/208155 property_value: exactMatch Orphanet:1150 property_value: excluded_subClassOf MONDO:0015501 {source="Orphanet:1150"} [Term] id: MONDO:0008826 name: arthrogryposis-hyperkeratosis syndrome, lethal form def: "Arthrogryposis-hyperkeratosis syndrome, lethal form is an arthrogryposis syndrome, described in two siblings to date, characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993." [Orphanet:1485] subset: ordo_malformation_syndrome {source="Orphanet:1485"} synonym: "arthrogryposis with hyperkeratosis" RELATED [OMIM:208158] synonym: "Johnston Aarons Schelley syndrome" RELATED [GARD:0003053] synonym: "Johnston-Aarons-Schelley syndrome" EXACT [Orphanet:1485] synonym: "Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns" RELATED [GARD:0003053] xref: MESH:C535883 {source="MONDO:equivalentTo"} xref: OMIM:208158 {source="Orphanet:1485", source="MONDO:equivalentTo", source="Orphanet:1485/e"} xref: Orphanet:1485 {source="OMIM:208158", source="MONDO:equivalentTo"} xref: SCTID:726620005 {source="MONDO:equivalentTo"} xref: UMLS:C1859710 {source="OMIM:208158", source="Orphanet:1485", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015168 {source="Orphanet:1485"} ! arthrogryposis multiplex congenita property_value: exactMatch http://identifiers.org/mesh/C535883 property_value: exactMatch http://identifiers.org/snomedct/726620005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859710 property_value: exactMatch https://omim.org/entry/208158 property_value: exactMatch Orphanet:1485 [Term] id: MONDO:0008827 name: progressive pseudorheumatoid arthropathy of childhood def: "Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED." [Orphanet:1159] subset: ordo_disease {source="Orphanet:1159"} synonym: "arthropathy, progressive pseudorheumatoid, of childhood" RELATED [MONDO:Lexical, OMIM:208230] synonym: "PPAC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:208230] synonym: "PPD" RELATED AMBIGUOUS [GARD:0009184] synonym: "progressive pseudorheumatoid arthropathy of childhood" EXACT [OMIM:208230] synonym: "progressive pseudorheumatoid chondrodysplasia" RELATED [GARD:0009184] synonym: "progressive pseudorheumatoid dysplasia" RELATED [OMIM:208230] synonym: "SEDT-PA" RELATED [GARD:0009184] synonym: "spondyloepiphyseal dysplasia tarda - progressive arthropathy" RELATED [GARD:0009184] synonym: "spondyloepiphyseal dysplasia tarda with progressive arthropathy" RELATED [OMIM:208230] synonym: "spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome" EXACT [DOID:0090004, Orphanet:1159] xref: DOID:0090004 {source="MONDO:equivalentTo"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535387 {source="MONDO:equivalentTo", source="Orphanet:1159", source="Orphanet:1159/e"} xref: OMIM:208230 {source="MONDO:equivalentTo", source="Orphanet:1159", source="DOID:0090004", source="Orphanet:1159/e"} xref: Orphanet:1159 {source="MONDO:equivalentTo", source="DOID:0090004", source="OMIM:208230"} xref: SCTID:254065005 {source="MONDO:equivalentTo"} is_a: MONDO:0016761 {source="Orphanet:1159"} ! spondyloepiphyseal dysplasia is_a: MONDO:0800092 {source="PMID:31633310"} ! hereditary inflammatory or rheumatoid-like osteoarthropathy property_value: exactMatch DOID:0090004 property_value: exactMatch http://identifiers.org/mesh/C535387 property_value: exactMatch http://identifiers.org/snomedct/254065005 property_value: exactMatch https://omim.org/entry/208230 property_value: exactMatch Orphanet:1159 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0008830 name: aspartylglucosaminuria def: "Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis)." [Orphanet:93] subset: ordo_disease {source="Orphanet:93"} synonym: "Aga deficiency" RELATED [OMIM:208400] synonym: "AGU" RELATED ABBREVIATION [MONDO:Lexical, OMIM:208400] synonym: "Aspartylglucosamidase (AGA) deficiency" RELATED [GARD:0005854] synonym: "aspartylglucosaminidase deficiency" EXACT [DOID:0050461, Orphanet:93] synonym: "aspartylglucosaminuria" EXACT [MONDO:Lexical, OMIM:208400] synonym: "aspartylglycosaminuria" EXACT [DOID:0050461, OMIM:208400] synonym: "Glycoasparaginase" RELATED [OMIM:208400] synonym: "glycosylasparaginase deficiency" EXACT [DOID:0050461, OMIM:208400] xref: DOID:0050461 {source="MONDO:equivalentTo"} xref: MedDRA:10068220 {source="Orphanet:93/e", source="Orphanet:93"} xref: MESH:D054880 {source="Orphanet:93/e", source="MONDO:equivalentTo", source="Orphanet:93", source="DOID:0050461"} xref: NCIT:C61273 {source="MONDO:equivalentTo", source="DOID:0050461"} xref: OMIM:208400 {source="Orphanet:93/e", source="MONDO:equivalentTo", source="Orphanet:93", source="DOID:0050461"} xref: Orphanet:93 {source="OMIM:208400", source="MONDO:equivalentTo"} xref: SCTID:54954004 {source="MONDO:equivalentTo", source="DOID:0050461"} xref: UMLS:C0268225 {source="OMIM:208400", source="Orphanet:93/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C61273", source="Orphanet:93", source="DOID:0050461"} is_a: MONDO:0019251 {source="Orphanet:93"} ! oligosaccharidosis is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement property_value: closeMatch http://identifiers.org/meddra/10068220 property_value: exactMatch DOID:0050461 property_value: exactMatch http://identifiers.org/mesh/D054880 property_value: exactMatch http://identifiers.org/snomedct/54954004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268225 property_value: exactMatch https://omim.org/entry/208400 property_value: exactMatch NCIT:C61273 property_value: exactMatch Orphanet:93 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0008832 name: right atrial isomerism def: "A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12." [DOID:0060856, PMID:14648004, PMID:20413652] subset: ordo_malformation_syndrome {source="Orphanet:97548"} synonym: "asplenia syndrome" RELATED [GARD:0006795] synonym: "asplenia with cardiovascular anomalies" EXACT [DOID:0060856] synonym: "bilateral right-sidedness sequence" RELATED [GARD:0006795] synonym: "heterotaxy, Visceroatrial, autosomal recessive" RELATED [OMIM:208530] synonym: "Ivemark syndrome" EXACT [DOID:0060856, OMIM:208530] synonym: "Polyasplenia" RELATED [OMIM:208530] synonym: "polysplenia syndrome" RELATED [OMIM:208530] synonym: "RAI" RELATED ABBREVIATION [MONDO:Lexical, OMIM:208530] synonym: "right atrial isomerism" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:208530] synonym: "right atrial isomerism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "right atrial isomerism (ivemark)" EXACT [OMIM:208530, OMIM:genemap2] synonym: "right isomerism" RELATED [OMIM:208530] synonym: "splenic agenesis syndrome" RELATED [GARD:0006795] synonym: "Vah, autosomal recessive" RELATED [OMIM:208530] xref: DOID:0060856 {source="MONDO:equivalentTo"} xref: HP:0011536 {source="MONDO:otherHierarchy"} xref: MedDRA:10068335 {source="Orphanet:97548", source="Orphanet:97548/e"} xref: OMIM:208530 {source="MONDO:equivalentTo", source="Orphanet:97548", source="DOID:0060856", source="Orphanet:97548/e"} xref: Orphanet:97548 {source="MONDO:equivalentTo", source="DOID:0060856", source="OMIM:208530"} is_a: MONDO:0018677 {source="DOID:0060856", source="Orphanet:97548"} ! visceral heterotaxy property_value: closeMatch http://identifiers.org/meddra/10068335 property_value: exactMatch DOID:0060856 property_value: exactMatch https://omim.org/entry/208530 property_value: exactMatch Orphanet:97548 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000589 "right atrial isomerism (disease)" xsd:string [Term] id: MONDO:0008838 name: ataxia - deafness - intellectual disability syndrome def: "This syndrome is characterized by progressive ataxia beginning during childhood, deafness and intellectual deficit." [Orphanet:1188] subset: ordo_malformation_syndrome {source="Orphanet:1188"} synonym: "Adr syndrome" RELATED [OMIM:208850] synonym: "ataxia, hearing loss, and intellectual disability" RELATED [GARD:0004644] synonym: "ataxia, hearing loss, and mental retardation" RELATED DEPRECATED [GARD:0004644] synonym: "ataxia-deafness-retardation syndrome" RELATED [OMIM:208850] synonym: "ataxia-hearing loss-intellectual disability syndrome" EXACT [Orphanet:1188] synonym: "familial ataxia, deafness, and developmental delay" RELATED [GARD:0004644] synonym: "Reardon Wilson Cavanagh syndrome" RELATED [GARD:0004644] synonym: "Reardon-Baraitser syndrome" EXACT [Orphanet:1188] xref: MESH:C535295 {source="MONDO:equivalentTo"} xref: OMIM:208850 {source="Orphanet:1188", source="MONDO:equivalentTo", source="Orphanet:1188/e"} xref: Orphanet:1188 {source="OMIM:208850", source="MONDO:equivalentTo"} xref: SCTID:720517001 {source="MONDO:equivalentTo"} is_a: MONDO:0016612 {source="Orphanet:1188"} ! X-linked cerebellar ataxia property_value: exactMatch http://identifiers.org/mesh/C535295 property_value: exactMatch http://identifiers.org/snomedct/720517001 property_value: exactMatch https://omim.org/entry/208850 property_value: exactMatch Orphanet:1188 [Term] id: MONDO:0008840 name: ataxia telangiectasia def: "Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterized by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer." [Orphanet:100] subset: gard_rare {source="GARD:0005862"} subset: ordo_disease {source="Orphanet:100"} synonym: "AT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:208900] synonym: "AT, complementation group A" RELATED [OMIM:208900] synonym: "AT, complementation group C" RELATED [OMIM:208900] synonym: "AT, complementation group D" RELATED [OMIM:208900] synonym: "AT, complementation group E" RELATED [OMIM:208900] synonym: "AT1" RELATED ABBREVIATION [OMIM:208900] synonym: "ataxia - telangiectasia" EXACT [MONDO:Lexical, NCIT:C2887, OMIM:208900] synonym: "ataxia - telangiectasia variant" RELATED [OMIM:208900] synonym: "ataxia telangiectasia" EXACT [NCIT:C2887] synonym: "ataxia telangiectasia syndrome" EXACT [NCIT:C2887] synonym: "ataxia-telangiectasia" RELATED [OMIM:208900] synonym: "boder-Sedgwick syndrome" EXACT [DOID:12704] synonym: "cerebello-oculocutaneous telangiectasia" RELATED [GARD:0005862] synonym: "immunodeficiency with ataxia telangiectasia" RELATED [GARD:0005862] synonym: "Louis Bar syndrome" EXACT [DOID:12704] synonym: "Louis-Bar syndrome" EXACT [NCIT:C2887, OMIM:208900, Orphanet:100] xref: DOID:12704 {source="MONDO:equivalentTo"} xref: ICD9:334.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10003594 {source="Orphanet:100/e", source="Orphanet:100"} xref: MESH:D001260 {source="Orphanet:100/e", source="DOID:12704", source="MONDO:equivalentTo", source="Orphanet:100"} xref: NCIT:C2887 {source="DOID:12704", source="MONDO:equivalentTo"} xref: OMIM:208900 {source="Orphanet:100/e", source="DOID:12704", source="MONDO:equivalentTo", source="Orphanet:100"} xref: Orphanet:100 {source="MONDO:equivalentTo", source="OMIM:208900"} xref: SCTID:68504005 {source="DOID:12704", source="MONDO:equivalentTo"} xref: UMLS:C0004135 {source="Orphanet:100/e", source="DOID:12704", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:208900", source="NCIT:C2887", source="Orphanet:100"} xref: UMLS:C1876175 {source="MONDO:relatedTo", source="OMIM:208900"} is_a: MONDO:0015131 {source="NCIT:C2887"} ! combined immunodeficiency is_a: MONDO:0016756 {source="Orphanet:100"} ! inherited nervous system cancer-predisposing syndrome is_a: MONDO:0019852 {source="Orphanet:100"} ! inherited primary ovarian failure property_value: closeMatch http://identifiers.org/meddra/10003594 property_value: exactMatch DOID:12704 property_value: exactMatch http://identifiers.org/mesh/D001260 property_value: exactMatch http://identifiers.org/snomedct/68504005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004135 property_value: exactMatch https://omim.org/entry/208900 property_value: exactMatch NCIT:C2887 property_value: exactMatch Orphanet:100 property_value: excluded_subClassOf MONDO:0019293 {source="Orphanet:100"} property_value: excluded_subClassOf MONDO:0042983 {source="MESH:D001260", source="NCIT:C2887", source="Wikipedia:Phakomatosis"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5682 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5862/ataxia-telangiectasia xsd:anyURI {source="GARD:0005862"} [Term] id: MONDO:0008842 name: ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia def: "A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia." [Orphanet:1168] comment: Editor note: see PMID:17094036 for a discussion of relationship to CoQ10 deficiency. This is not a primary CoQ10 deficiency, subset: ordo_disease {source="Orphanet:1168"} synonym: "AOA1" EXACT ABBREVIATION [Orphanet:1168] synonym: "APTX oculomotor apraxia or related oculomotor disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "ataxia with oculomotor apraxia type 1" EXACT [Orphanet:1168] synonym: "ataxia, adult-onset, with oculomotor apraxia" RELATED [OMIM:208920] synonym: "ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia" EXACT [MONDO:Lexical, OMIM:208920] synonym: "ataxia-oculomotor apraxia 1" RELATED [OMIM:208920] synonym: "ataxia-oculomotor apraxia syndrome" RELATED [OMIM:208920] synonym: "ataxia-oculomotor apraxia type 1" RELATED [Orphanet:1168] synonym: "ataxia-telangiectasia-like syndrome" RELATED [OMIM:208920] synonym: "cerebellar ataxia, early-onset, with hypoalbuminemia" RELATED [OMIM:208920] synonym: "EAOH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:208920] synonym: "early-onset ataxia with oculomotor apraxia and hypoalbuminemia" RELATED [GARD:0009283] synonym: "early-onset cerebellar ataxia with hypoalbuminemia" RELATED [GARD:0009283] synonym: "EOCA-HA" RELATED [GARD:0009283] synonym: "oculomotor apraxia or related oculomotor disease caused by mutation in APTX" EXACT [MONDO:design_pattern] xref: DOID:0050754 {source="MONDO:equivalentTo"} xref: MESH:C538013 {source="MONDO:equivalentTo"} xref: OMIM:208920 {source="Orphanet:1168", source="MONDO:equivalentTo", source="DOID:0050754", source="Orphanet:1168/e"} xref: Orphanet:1168 {source="OMIM:208920", source="MONDO:equivalentTo"} xref: UMLS:C1859598 {source="OMIM:208920", source="Orphanet:1168", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0008499 {source="PMID:20687492"} ! DNA repair deficiency is_a: MONDO:0011457 ! ataxia-telangiectasia-like disorder relationship: disease_has_feature MONDO:0018151 {source="Orphanet:1168-modified", source="PMID:17094036"} ! coenzyme Q10 deficiency property_value: exactMatch DOID:0050754 property_value: exactMatch http://identifiers.org/mesh/C538013 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859598 property_value: exactMatch https://omim.org/entry/208920 property_value: exactMatch Orphanet:1168 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5347 xsd:anyURI [Term] id: MONDO:0008843 name: atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome def: "A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994." [Orphanet:1192] subset: ordo_malformation_syndrome {source="Orphanet:1192"} synonym: "atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease" RELATED [OMIM:209010] synonym: "Feigenbaum Bergeron Richardson syndrome" RELATED [GARD:0002279] synonym: "Feigenbaum-Bergeron-Richardson syndrome" EXACT [Orphanet:1192] synonym: "premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder" RELATED [GARD:0002279] xref: MESH:C565928 {source="MONDO:equivalentTo"} xref: OMIM:209010 {source="Orphanet:1192/e", source="MONDO:equivalentTo", source="Orphanet:1192"} xref: Orphanet:1192 {source="MONDO:equivalentTo", source="OMIM:209010"} xref: SCTID:720519003 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIM:209010"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C565928 property_value: exactMatch http://identifiers.org/snomedct/720519003 property_value: exactMatch https://omim.org/entry/209010 property_value: exactMatch Orphanet:1192 property_value: excluded_subClassOf MONDO:0015650 {source="Orphanet:1192"} [Term] id: MONDO:0008846 name: atransferrinemia def: "Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated." [Orphanet:1195] subset: gard_rare {source="GARD:0009595"} subset: ordo_disease {source="Orphanet:1195"} synonym: "atransferrinemia" EXACT [OMIM:209300] synonym: "congenital atransferrinemia" EXACT [NCIT:C125693] synonym: "congenital hypotransferrinemia" EXACT [Orphanet:1195] synonym: "familial hypotransferrinemia" EXACT [DOID:0050649] synonym: "hereditary atransferrinemia" EXACT [NCIT:C125693] synonym: "hypotransferrinemia, familial" RELATED [OMIM:209300] synonym: "transferrin serum level quantitative trait locus 1" RELATED [OMIM:209300] xref: DOID:0050649 {source="MONDO:equivalentTo"} xref: MESH:C538259 {source="Orphanet:1195/e", source="MONDO:equivalentTo", source="Orphanet:1195"} xref: NCIT:C125693 {source="MONDO:equivalentTo"} xref: OMIM:209300 {source="Orphanet:1195/e", source="MONDO:equivalentTo", source="DOID:0050649", source="Orphanet:1195"} xref: Orphanet:1195 {source="MONDO:equivalentTo", source="OMIM:209300"} xref: SCTID:111571009 {source="MONDO:equivalentTo"} xref: UMLS:C0521802 {source="NCIT:C125693", source="Orphanet:1195/e", source="MONDO:equivalentTo", source="OMIM:209300", source="Orphanet:1195"} is_a: MONDO:0004689 {source="DOID:0050649", source="MESH:C538259"} ! inborn metal metabolism disorder is_a: MONDO:0016624 ! inherited deficiency anemia is_a: MONDO:0017763 {source="Orphanet:1195"} ! disorder of iron metabolism and transport property_value: exactMatch DOID:0050649 property_value: exactMatch http://identifiers.org/mesh/C538259 property_value: exactMatch http://identifiers.org/snomedct/111571009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0521802 property_value: exactMatch https://omim.org/entry/209300 property_value: exactMatch NCIT:C125693 property_value: exactMatch Orphanet:1195 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9595/atransferrinemia xsd:anyURI {source="GARD:0009595"} [Term] id: MONDO:0008847 name: atrichia with papular lesions def: "Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities." [Orphanet:86819] subset: ordo_disease {source="Orphanet:86819"} synonym: "APL" RELATED ABBREVIATION [DOID:0060689, MONDO:Lexical, OMIM:209500] synonym: "atrichia with papular lesions" EXACT [MONDO:Lexical, OMIM:209500] synonym: "papular atrichia" EXACT [DOID:0060689, OMIM:209500, Orphanet:86819] xref: DOID:0060689 {source="MONDO:equivalentTo"} xref: MESH:C565924 {source="MONDO:equivalentTo"} xref: OMIM:209500 {source="Orphanet:86819/e", source="MONDO:equivalentTo", source="DOID:0060689", source="Orphanet:86819"} xref: Orphanet:86819 {source="OMIM:209500", source="MONDO:equivalentTo", source="DOID:0060689"} xref: SCTID:715963002 {source="MONDO:equivalentTo"} xref: UMLS:C1859592 {source="OMIM:209500", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:86819"} is_a: MONDO:0004907 {source="DOID:0060689", source="MESH:C565924", source="Orphanet:86819"} ! alopecia property_value: exactMatch DOID:0060689 property_value: exactMatch http://identifiers.org/mesh/C565924 property_value: exactMatch http://identifiers.org/snomedct/715963002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859592 property_value: exactMatch https://omim.org/entry/209500 property_value: exactMatch Orphanet:86819 [Term] id: MONDO:0008848 name: atrioventricular dissociation def: "Impaired conduction of cardiac impulse that can occur anywhere along the conduction pathway, such as between the sinoatrial node and the right atrium (sa block) or between atria and ventricles (av block). Heart blocks can be classified by the duration, frequency, or completeness of conduction block. Reversibility depends on the degree of structural or functional defects." [MESH:D006327] synonym: "A-V dissociation" RELATED [OMIM:209600] synonym: "atrioventricular dissociation" EXACT [MONDO:ambiguous, OMIM:209600] synonym: "atrioventricular dissociation (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0011709 {source="MONDO:otherHierarchy"} xref: ICD9:426.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D006327 {source="MONDO:equivalentTo"} xref: OMIM:209600 {source="MONDO:equivalentTo"} xref: SCTID:50799005 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/D006327 property_value: exactMatch http://identifiers.org/snomedct/50799005 property_value: exactMatch https://omim.org/entry/209600 property_value: IAO:0000589 "atrioventricular dissociation (disease)" xsd:string [Term] id: MONDO:0008849 name: atrophoderma vermiculata subset: gard_rare {source="GARD:0009744"} subset: ordo_disease {source="Orphanet:79100"} synonym: "atrophoderma vermiculata" EXACT [MONDO:Lexical, OMIM:209700] synonym: "atrophoderma vermiculatum" RELATED [GARD:0009744] synonym: "Atrophodermia reticulata" RELATED [GARD:0009744] synonym: "Atrophodermia reticulata symmetrica faciei" RELATED [OMIM:209700] synonym: "Atrophodermia vermiculata" RELATED [OMIM:209700] synonym: "ava" RELATED [MONDO:Lexical, OMIM:209700] synonym: "folliculitis ulerythematosa" RELATED [GARD:0009744] synonym: "folliculitis ulerythematosa reticulata" RELATED [OMIM:209700] synonym: "folliculitis ulerythematosa reticulate" EXACT [Orphanet:79100] synonym: "honeycomb atrophy" RELATED [OMIM:209700] xref: DOID:0080756 {source="MONDO:equivalentTo"} xref: ICD9:701.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:209700 {source="Orphanet:79100/e", source="MONDO:equivalentTo", source="Orphanet:79100"} xref: Orphanet:79100 {source="OMIM:209700", source="MONDO:equivalentTo"} xref: SCTID:2736005 {source="MONDO:equivalentTo"} is_a: MONDO:0018855 {source="Orphanet:79100"} ! keratosis pilaris atrophicans property_value: exactMatch DOID:0080756 property_value: exactMatch http://identifiers.org/snomedct/2736005 property_value: exactMatch https://omim.org/entry/209700 property_value: exactMatch Orphanet:79100 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9744/atrophoderma-vermiculata xsd:anyURI {source="GARD:0009744"} [Term] id: MONDO:0008850 name: Cooper-Jabs syndrome def: "Cooper-Wang-Jabs syndrome is a multiple malformation syndrome characterized by atresia of the auditory canal together with ventricular septal defect, anteriorly displaced anus, mild clubfoot, and intellectual deficit. It has been described only once, in two sisters. The mode of inheritance is most likely autosomal recessive." [Orphanet:1488] subset: ordo_malformation_syndrome {source="Orphanet:1488"} synonym: "aural atresia, multiple congenital anomalies, and intellectual disability" RELATED [OMIM:209770] synonym: "aural atresia, multiple congenital anomalies, and mental retardation" RELATED DEPRECATED [OMIM:209770] synonym: "aural atresia-multiple congenital anomalies-intellectual disability syndrome" EXACT [Orphanet:1488] xref: MESH:C565923 {source="MONDO:equivalentTo"} xref: OMIM:209770 {source="Orphanet:1488", source="MONDO:equivalentTo", source="Orphanet:1488/e"} xref: Orphanet:1488 {source="MONDO:equivalentTo", source="OMIM:209770"} xref: SCTID:720748007 {source="MONDO:equivalentTo"} is_a: MONDO:0015161 {source="Orphanet:1488"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C565923 property_value: exactMatch http://identifiers.org/snomedct/720748007 property_value: exactMatch https://omim.org/entry/209770 property_value: exactMatch Orphanet:1488 [Term] id: MONDO:0008852 name: obsolete congenital central hypoventilation syndrome property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4501 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI is_obsolete: true replaced_by: MONDO:0800026 [Term] id: MONDO:0008853 name: Barber-Say syndrome def: "Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." [Orphanet:1231] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1231"} synonym: "Barber Say syndrome" RELATED [GARD:0000819] synonym: "BARBER-SAY syndrome" RELATED [OMIM:209885] synonym: "Barber-Say syndrome" EXACT [MONDO:Lexical, OMIM:209885] synonym: "BBRSAY" RELATED ABBREVIATION [MONDO:Lexical, OMIM:209885] synonym: "Bss" RELATED [OMIM:209885] synonym: "hypertrichosis atrophic skin ectropion macrostomia" RELATED [GARD:0000819] synonym: "hypertrichosis, atrophic skin, ectropion, and macrostomia" RELATED [GARD:0000819, OMIM:209885] synonym: "hypertrichosis-atrophic skin-ectropion-macrostomia syndrome" EXACT [Orphanet:1231] xref: DOID:0060549 {source="MONDO:equivalentTo"} xref: MESH:C537908 {source="Orphanet:1231", source="MONDO:equivalentTo", source="Orphanet:1231/e", source="DOID:0060549"} xref: OMIM:209885 {source="GARD:0000819", source="Orphanet:1231", source="MONDO:equivalentTo", source="Orphanet:1231/e", source="DOID:0060549"} xref: Orphanet:1231 {source="GARD:0000819", source="OMIM:209885", source="MONDO:equivalentTo", source="DOID:0060549"} xref: SCTID:408537003 {source="MONDO:equivalentTo", source="DOID:0060549"} xref: UMLS:C1319466 {source="GARD:0000819", source="OMIM:209885", source="Orphanet:1231", source="MONDO:equivalentTo", source="Orphanet:1231/e", source="MONDO:ncbi_mim2gene_medline", source="DOID:0060549"} is_a: MONDO:0001334 ! hypertrichosis of eyelid is_a: MONDO:0015161 {source="Orphanet:1231"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0019287 {source="Orphanet:1231"} ! ectodermal dysplasia syndrome is_a: MONDO:0020154 {source="Orphanet:1231"} ! microblepharon-ablephara syndrome is_a: MONDO:0020159 {source="Orphanet:1231"} ! congenital entropion is_a: MONDO:0020162 {source="Orphanet:1231"} ! secondary ectropion property_value: exactMatch DOID:0060549 property_value: exactMatch http://identifiers.org/mesh/C537908 property_value: exactMatch http://identifiers.org/snomedct/408537003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1319466 property_value: exactMatch https://omim.org/entry/209885 property_value: exactMatch Orphanet:1231 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/819/barber-say-syndrome xsd:anyURI {source="GARD:0000819"} [Term] id: MONDO:0008855 name: MHC class II deficiency def: "Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood." [Orphanet:572] subset: gard_rare subset: ordo_disease {source="Orphanet:572"} synonym: "BARE lymphocyte syndrome" RELATED [MESH:C537079] synonym: "Bare lymphocyte syndrome" RELATED [OMIM:209920] synonym: "Bare lymphocyte syndrome 2" RELATED [GARD:0000824] synonym: "Bare lymphocyte syndrome type 2" RELATED [GARD:0000824, MESH:C537079, Orphanet:572] synonym: "bare lymphocyte syndrome type II" RELATED [DOID:5812] synonym: "Bare lymphocyte syndrome, type 2" RELATED [OMIM:209920] synonym: "BARE lymphocyte syndrome, type II" RELATED [OMIM:209920] synonym: "Bare lymphocyte syndrome, type II" RELATED [MESH:C537079] synonym: "Bare lymphocyte syndrome, type II, complementation group A" RELATED [OMIM:209920] synonym: "Bare lymphocyte syndrome, type II, complementation group B" RELATED [OMIM:209920] synonym: "BARE lymphocyte syndrome, type II, complementation group B, included" RELATED [MESH:C537079] synonym: "Bare lymphocyte syndrome, type II, complementation group C" RELATED [OMIM:209920] synonym: "BARE lymphocyte syndrome, type II, complementation group C, included" RELATED [MESH:C537079] synonym: "Bare lymphocyte syndrome, type II, complementation group D" RELATED [OMIM:209920] synonym: "BARE lymphocyte syndrome, type II, complementation group D, included" RELATED [MESH:C537079] synonym: "Bare lymphocyte syndrome, type II, complementation group E" RELATED [OMIM:209920] synonym: "BARE lymphocyte syndrome, type II, complementation group E, included" RELATED [MESH:C537079] synonym: "BLS" RELATED ABBREVIATION [MESH:C537079] synonym: "BLS 2" RELATED [GARD:0000824] synonym: "BLS type II" RELATED [MESH:C537079] synonym: "Bls, type 2" RELATED [OMIM:209920] synonym: "BLS, type II" RELATED [MESH:C537079] synonym: "BLSII" RELATED ABBREVIATION [DOID:5812] synonym: "HLA class 2-negative SCID" EXACT [Orphanet:572] synonym: "HLA class 2-negative severe combined immunodeficiency" EXACT [Orphanet:572] synonym: "immunodeficiency by defective expression of HLA class 2" RELATED [Orphanet:572] synonym: "immunodeficiency by defective expression of HLA class type 2" EXACT [MONDORULE:1, Orphanet:572] synonym: "major histocompatibility complex class II expression deficiency" EXACT [Orphanet:572] synonym: "MHC class II deficiency, complementation group B" EXACT [OMIM:209920, OMIM:genemap2] synonym: "MHC class II expression deficiency" EXACT [Orphanet:572] synonym: "SCID due to absent class II HLA antigens" EXACT [DOID:5812] synonym: "SCID, HLA Class 2-negative" RELATED [GARD:0000824, MESH:C537079] synonym: "SCID, HLA Class II-negative" RELATED [MESH:C537079, OMIM:209920] synonym: "SCID, HLA CLASS II-NEGATIVE BARE lymphocyte syndrome, type II, complementation group A, included" RELATED [MESH:C537079] synonym: "severe combined immunodeficiency, HLA Class II-negative" RELATED [OMIM:209920] synonym: "severe combined immunodeficiency, HLA class ii-negative" RELATED [GARD:0000824, MESH:C537079] xref: DOID:5812 {source="MONDO:equivalentTo"} xref: MESH:C537079 {source="MONDO:equivalentTo"} xref: MESH:D016511 {source="MONDO:relatedTo", source="DOID:5812"} xref: NCIT:C176823 {source="MONDO:equivalentTo"} xref: NCIT:C3895 {source="DOID:5812", source="MONDO:equivalentTo"} xref: OMIM:209920 {source="Orphanet:572/e", source="DOID:5812", source="MONDO:equivalentTo", source="GARD:0000824", source="Orphanet:572"} xref: Orphanet:572 {source="OMIM:209920", source="MONDO:equivalentTo", source="GARD:0000824"} xref: SCTID:71904008 {source="DOID:5812", source="MONDO:equivalentTo"} xref: UMLS:CN239286 {source="MONDO:equivalentTo"} is_a: MONDO:0031520 {source="OMIM:209920"} ! familial severe combined immunodeficiency property_value: exactMatch DOID:5812 property_value: exactMatch http://identifiers.org/mesh/C537079 property_value: exactMatch http://identifiers.org/snomedct/71904008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239286 property_value: exactMatch https://omim.org/entry/209920 property_value: exactMatch NCIT:C176823 property_value: exactMatch NCIT:C3895 property_value: exactMatch Orphanet:572 property_value: excluded_subClassOf MONDO:0015974 {source="DOID:5812", source="https://github.com/monarch-initiative/mondo-build/issues/108"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/824/bare-lymphocyte-syndrome-2 xsd:anyURI {source="GARD:0000824"} [Term] id: MONDO:0008856 name: immunodeficiency 27A synonym: "atypical mycobacterial infection, disseminated" RELATED [GARD:0009185] synonym: "atypical mycobacterial infection, familial disseminated" RELATED [GARD:0009185] synonym: "atypical mycobacteriosis, familial" RELATED [GARD:0009185] synonym: "IFNGR1 deficiency, autosomal recessive" RELATED [OMIM:209950] synonym: "IMD27A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:209950] synonym: "immunodeficiency 27A" EXACT [MONDO:Lexical, OMIM:209950] synonym: "immunodeficiency 27A, mycobacteriosis, AR" EXACT [OMIM:209950, OMIM:genemap2] synonym: "immunodeficiency 27A, Mycobacteriosis, autosomal recessive" RELATED [OMIM:209950] synonym: "immunodeficiency type 27A" EXACT [MONDORULE:4, OMIM:209950] synonym: "mycobacterial disease, Mendelian susceptibility to" RELATED [GARD:0009185] xref: DOID:0111955 {source="MONDO:equivalentTo"} xref: NCIT:C176806 {source="MONDO:equivalentTo"} xref: OMIM:209950 {source="MONDO:equivalentTo"} xref: Orphanet:99898 {source="OMIM:209950", source="MONDO:relatedTo"} xref: UMLS:C4011949 {source="MONDO:equivalentTo"} is_a: MONDO:0019146 ! inherited susceptibility to mycobacterial diseases property_value: exactMatch DOID:0111955 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4011949 property_value: exactMatch https://omim.org/entry/209950 property_value: exactMatch NCIT:C176806 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4472 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008857 name: Beemer-Ertbruggen syndrome def: "Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984." [Orphanet:1237] subset: gard_rare {source="GARD:0000846"} subset: ordo_malformation_syndrome {source="Orphanet:1237"} synonym: "Beemer Ertbruggen syndrome" RELATED [GARD:0000846] synonym: "Beemer lethal malformation syndrome" RELATED [OMIM:209970] synonym: "hydrocephalus, cardiac malformation, dense bones, etc" RELATED [GARD:0000846] synonym: "hydrocephalus, Cardiac malformation, dense bones, etc." RELATED [OMIM:209970] synonym: "lethal hydrocephalus-cardiac malformation-dense bones syndrome" EXACT [Orphanet:1237] synonym: "peculiar facial appearance, hydrocephalus, double-outlet right ventricle, genital anomalies and dense bones with lethal outcome" RELATED [GARD:0000846] xref: MESH:C537668 {source="MONDO:equivalentTo", source="Orphanet:1237", source="Orphanet:1237/e"} xref: OMIM:209970 {source="MONDO:equivalentTo", source="Orphanet:1237", source="Orphanet:1237/e"} xref: Orphanet:1237 {source="MONDO:equivalentTo", source="OMIM:209970"} xref: SCTID:717859007 {source="MONDO:equivalentTo"} xref: UMLS:C1859526 {source="MONDO:equivalentTo", source="Orphanet:1237", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1237/e", source="OMIM:209970"} is_a: MONDO:0015161 {source="Orphanet:1237"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C537668 property_value: exactMatch http://identifiers.org/snomedct/717859007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859526 property_value: exactMatch https://omim.org/entry/209970 property_value: exactMatch Orphanet:1237 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/846/beemer-ertbruggen-syndrome xsd:anyURI {source="GARD:0000846"} [Term] id: MONDO:0008858 name: Behr syndrome def: "A disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient." [https://orcid.org/0000-0001-5208-3432, https://rarediseases.info.nih.gov/diseases/849/behr-syndrome] comment: Editor note: note ORDO obsoleting Behr disease and replaced by the more generic SHON but we retain for gene-speicific form subset: gard_rare {source="GARD:0000849"} subset: ordo_malformation_syndrome {source="Orphanet:1239"} synonym: "Behr syndrome" EXACT [OMIM:210000] synonym: "BEHRS" RELATED ABBREVIATION [OMIM:210000] synonym: "optic atrophy in early childhood, associated with ataxia, spasticity, intellectual disability, and posterior column sensory loss" RELATED [GARD:0000849] synonym: "optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss" RELATED DEPRECATED [GARD:0000849] synonym: "optic atrophy, infantile hereditary, Behr complicated form of" RELATED [GARD:0000849] synonym: "optic atrophy, infantile hereditary, with neurologic abnormalities" RELATED [OMIM:210000] xref: DOID:0111580 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:1239", source="Orphanet:1239/index", source="Orphanet:1239/ntbt"} xref: MESH:C537669 {source="MONDO:equivalentTo", source="Orphanet:1239", source="Orphanet:1239/e"} xref: NCIT:C177251 {source="MONDO:equivalentTo"} xref: OMIM:210000 {source="MONDO:equivalentTo", source="Orphanet:1239", source="Orphanet:1239/e"} xref: Orphanet:1239 {source="MONDO:equivalentObsolete", source="OMIM:210000"} xref: SCTID:718221007 {source="MONDO:equivalentTo"} xref: UMLS:C0221061 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:210000", source="Orphanet:1239", source="Orphanet:1239/e"} is_a: EFO:0000618 {source="DOID:0111580"} ! nervous system disease is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0800181 {source="https://clinicalgenome.org/working-groups/clinical-domain/inborn-errors-of-metabolism/", source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! OPA1-related optic atrophy with or without extraocular features property_value: exactMatch DOID:0111580 property_value: exactMatch http://identifiers.org/mesh/C537669 property_value: exactMatch http://identifiers.org/snomedct/718221007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221061 property_value: exactMatch https://omim.org/entry/210000 property_value: exactMatch NCIT:C177251 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5475 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/849/behr-syndrome xsd:anyURI {source="GARD:0000849"} [Term] id: MONDO:0008862 name: 3-methylcrotonyl-CoA carboxylase 2 deficiency def: "Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "3 alpha methylcrotonyl-CoA carboxylase 2 deficiency" RELATED [GARD:0009151] synonym: "3 alpha methylcrotonylglycinuria 2" RELATED [GARD:0009151] synonym: "3-METHYLCROTONYL-CoA carboxylase 2 deficiency" RELATED [OMIM:210210] synonym: "3-Methylcrotonyl-CoA carboxylase 2 deficiency" EXACT [MONDO:Lexical, OMIM:210210] synonym: "3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC2" EXACT [MONDO:design_pattern] synonym: "3-methylcrotonylglycinuria 2" RELATED [OMIM:210210] synonym: "MCC 2 deficiency" RELATED [GARD:0009151] synonym: "MCC2 deficiency" RELATED [OMIM:210210] synonym: "MCC2D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:210210] synonym: "MCCC2 3-methylcrotonyl-CoA carboxylase deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "methylcrotonylglycinuria type 2" RELATED [GARD:0009151] synonym: "methylcrotonylglycinuria, type 2" RELATED [OMIM:210210] xref: DOID:0080580 {source="MONDO:equivalentTo"} xref: MESH:C535309 {source="MONDO:equivalentTo"} xref: OMIM:210210 {source="MONDO:equivalentTo"} is_a: MONDO:0018950 {source="MONDO:Redundant", source="OMIM:210210", source="Orphanet:6/btnt"} ! 3-methylcrotonyl-CoA carboxylase deficiency property_value: exactMatch DOID:0080580 property_value: exactMatch http://identifiers.org/mesh/C535309 property_value: exactMatch https://omim.org/entry/210210 [Term] id: MONDO:0008863 name: sitosterolemia def: "A rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes." [Orphanet:2882] subset: gard_rare {source="GARD:0007653"} subset: ordo_disease {source="Orphanet:2882"} synonym: "macrothrombocytopenia/stomatocytosis, Mediterranean" RELATED [OMIM:210250] synonym: "phytosterolemia" EXACT [DOID:0090019, OMIM:210250, Orphanet:2882] synonym: "plant sterol storage disease" RELATED [GARD:0007653] synonym: "retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body" RELATED [GARD:0007653] synonym: "sitosterolemia" EXACT [OMIM:210250] synonym: "STSL" RELATED ABBREVIATION [OMIM:210250] xref: DOID:0090019 {source="MONDO:equivalentTo"} xref: MedDRA:10063985 {source="Orphanet:2882", source="Orphanet:2882/e"} xref: MESH:C537345 {source="Orphanet:2882", source="MONDO:equivalentTo", source="Orphanet:2882/e", source="DOID:0090019"} xref: NCIT:C125694 {source="MONDO:equivalentTo"} xref: OMIMPS:210250 {source="MONDO:equivalentTo"} xref: OMIMPS:215250 {source="MONDO:equivalentObsolete"} xref: Orphanet:101022 {source="OMIM:210250", source="MONDO:equivalentObsolete"} xref: Orphanet:2882 {source="OMIM:210250", source="MONDO:equivalentTo", source="DOID:0090019"} xref: SCTID:238104009 {source="MONDO:equivalentTo"} xref: UMLS:C0342907 {source="OMIM:210250", source="Orphanet:2882", source="NCIT:C125694", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2882/e", source="DOID:0090019"} is_a: MONDO:0015905 {source="Orphanet:2882"} ! syndromic dyslipidemia property_value: closeMatch http://identifiers.org/meddra/10063985 property_value: exactMatch DOID:0090019 property_value: exactMatch http://identifiers.org/mesh/C537345 property_value: exactMatch http://identifiers.org/snomedct/238104009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342907 property_value: exactMatch https://omim.org/phenotypicSeries/PS210250 property_value: exactMatch NCIT:C125694 property_value: exactMatch Orphanet:2882 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7653/sitosterolemia xsd:anyURI {source="GARD:0007653"} [Term] id: MONDO:0008864 name: Biemond syndrome type 2 def: "Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997." [Orphanet:141333] comment: Editor note: see also type 1, e.g. GARD:0000881 subset: gard_rare subset: ordo_disease {source="Orphanet:141333"} synonym: "Biemond syndrome 2" RELATED [GARD:0000882] synonym: "BIEMOND syndrome II" RELATED [OMIM:210350] synonym: "Biemond syndrome type 2" EXACT [MONDORULE:1, OMIM:210350] synonym: "BS2" RELATED ABBREVIATION [GARD:0000882] synonym: "hypogonadism-short stature-coloboma-preaxial polydactyly syndrome" EXACT [Orphanet:141333] synonym: "iris coloboma, intellectual disability, obesity, hypogenitalism, and postaxial polydactyly" RELATED [GARD:0000882] synonym: "iris coloboma, mental retardation, obesity, hypogenitalism, and postaxial polydactyly" RELATED DEPRECATED [GARD:0000882] xref: MESH:C565902 {source="MONDO:equivalentTo"} xref: OMIM:210350 {source="GARD:0000882", source="MONDO:equivalentTo", source="Orphanet:141333", source="Orphanet:141333/e"} xref: Orphanet:141333 {source="OMIM:210350", source="MONDO:equivalentTo"} xref: SCTID:717887003 {source="MONDO:equivalentTo"} xref: UMLS:C1859487 {source="OMIM:210350", source="MONDO:equivalentTo", source="Orphanet:141333", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015159 {source="Orphanet:141333"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C565902 property_value: exactMatch http://identifiers.org/snomedct/717887003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859487 property_value: exactMatch https://omim.org/entry/210350 property_value: exactMatch Orphanet:141333 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:141333"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/882/biemond-syndrome-2 xsd:anyURI {source="GARD:0000882"} [Term] id: MONDO:0008865 name: Bietti crystalline corneoretinal dystrophy def: "Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness." [Orphanet:41751] subset: gard_rare {source="GARD:0010050"} subset: ordo_disease {source="Orphanet:41751"} synonym: "BCD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:210370, Orphanet:41751] synonym: "Bietti crystalline corneoretinal dystrophy" EXACT [MONDO:Lexical, OMIM:210370, Orphanet:41751] synonym: "Bietti crystalline dystrophy" RELATED [OMIM:210370] synonym: "Bietti crystalline retinopathy" EXACT [Orphanet:41751] synonym: "Bietti tapetoretinal Degeneration with marginal corneal dystrophy" RELATED [OMIM:210370] synonym: "Bietti's crystalline dystrophy" EXACT [DOID:0050664] xref: DOID:0050664 {source="MONDO:equivalentTo"} xref: MESH:C535440 {source="Orphanet:41751", source="MONDO:equivalentTo", source="Orphanet:41751/e"} xref: NCIT:C179299 {source="MONDO:equivalentTo"} xref: OMIM:210370 {source="Orphanet:41751", source="DOID:0050664", source="MONDO:equivalentTo", source="Orphanet:41751/e"} xref: Orphanet:41751 {source="OMIM:210370", source="MONDO:equivalentTo"} xref: SCTID:312927001 {source="MONDO:equivalentTo"} xref: UMLS:C1859486 {source="OMIM:210370", source="Orphanet:41751", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0016420 {source="Orphanet:41751"} ! familial flecked retinopathy property_value: exactMatch DOID:0050664 property_value: exactMatch http://identifiers.org/mesh/C535440 property_value: exactMatch http://identifiers.org/snomedct/312927001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859486 property_value: exactMatch https://omim.org/entry/210370 property_value: exactMatch NCIT:C179299 property_value: exactMatch Orphanet:41751 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy xsd:anyURI {source="GARD:0010050"} [Term] id: MONDO:0008867 name: biliary atresia def: "A rare, biliary tract disease characterized by progressive obliterative cholangiopathy of the intra- and extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent neonatal jaundice and acholic stool." [Orphanet:30391] subset: gard_rare {source="GARD:0012010"} subset: ordo_morphological_anomaly {source="Orphanet:30391"} synonym: "atresia of bile duct" EXACT [DOID:13608] synonym: "atresia of bile ducts" EXACT [Orphanet:30391] synonym: "biliary atresia, congenital" EXACT [DOID:13608, ICD9CM:751.61] synonym: "congenital biliary atresia" EXACT [NCIT:C34421] synonym: "isolated atresia of bile ducts" EXACT [Orphanet:30391] synonym: "isolated biliary atresia" RELATED [Orphanet:30391] synonym: "non-syndromic biliary atresia" EXACT [Orphanet:30391] xref: DOID:13608 {source="MONDO:equivalentTo"} xref: ICD9:751.61 {source="DOID:13608", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10003650 {source="Orphanet:30391/e", source="Orphanet:30391"} xref: MESH:D001656 {source="Orphanet:30391/e", source="DOID:13608", source="MONDO:equivalentTo", source="Orphanet:30391"} xref: NCIT:C34421 {source="DOID:13608", source="MONDO:equivalentTo"} xref: Orphanet:30391 {source="DOID:13608", source="MONDO:equivalentTo", source="OMIM:210500"} xref: SCTID:77480004 {source="DOID:13608", source="MONDO:equivalentTo"} xref: UMLS:C0005411 {source="Orphanet:30391/e", source="DOID:13608", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C34421", source="OMIM:210500", source="Orphanet:30391"} is_a: EFO:1000400 {source="NCIT:C34421"} ! Non-Neoplastic Bile Duct Disorder is_a: MONDO:0001751 {source="DOID:13608"} ! cholestasis is_a: MONDO:0015213 {source="Orphanet:30391"} ! non-syndromic visceral malformation property_value: closeMatch http://identifiers.org/meddra/10003650 property_value: exactMatch DOID:13608 property_value: exactMatch http://identifiers.org/mesh/D001656 property_value: exactMatch http://identifiers.org/snomedct/77480004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005411 property_value: exactMatch NCIT:C34421 property_value: exactMatch Orphanet:30391 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12010/biliary-atresia xsd:anyURI {source="GARD:0012010"} [Term] id: MONDO:0008869 name: Seckel syndrome 1 def: "Any Seckel syndrome in which the cause of the disease is a mutation in the ATR gene." [MONDO:patterns/disease_series_by_gene] synonym: "ATR Seckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Bird-headed dwarfism" RELATED [OMIM:210600] synonym: "microcephalic primordial dwarfism 1" RELATED [OMIM:210600] synonym: "microcephalic primordial dwarfism I" EXACT [DOID:0070007] synonym: "nanocephalic dwarfism" RELATED [OMIM:210600] synonym: "Sckl" RELATED [OMIM:210600] synonym: "SCKL1" EXACT ABBREVIATION [DOID:0070007, MONDO:Lexical, OMIM:210600] synonym: "Seckel syndrome 1" EXACT [MONDO:Lexical, OMIM:210600] synonym: "Seckel syndrome 3" EXACT [OMIM:210600] synonym: "Seckel syndrome caused by mutation in ATR" EXACT [MONDO:design_pattern] synonym: "Seckel syndrome type 1" EXACT [MONDORULE:1, OMIM:210600] synonym: "Seckel-type dwarfism" RELATED [OMIM:210600] xref: DOID:0070007 {source="MONDO:equivalentTo"} xref: OMIM:210600 {source="MONDO:equivalentTo", source="DOID:0070007"} xref: UMLS:C1837590 {source="MONDO:equivalentTo"} xref: UMLS:CN033164 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019342 {source="DC-OMIM:210600", source="DOID:0070007", source="MONDO:Redundant", source="OMIM:210600"} ! Seckel syndrome property_value: exactMatch DOID:0070007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837590 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN033164 property_value: exactMatch https://omim.org/entry/210600 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0008870 name: bird headed-dwarfism, Montreal type def: "Microcephalic primordial dwarfism, Montreal type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970." [Orphanet:2617] subset: ordo_malformation_syndrome {source="Orphanet:2617"} synonym: "Bird-headed dwarfism with features of premature senility" RELATED [GARD:0000895] synonym: "Bird-headed dwarfism, Montreal type" RELATED [OMIM:210700] synonym: "microcephalic primordial dwarfism, Montreal type" RELATED [OMIM:210700] synonym: "premature senility, premature graying and loss of scalp hair and wrinkled skin of the palms" RELATED [GARD:0000895] synonym: "premature senility, premature greying and loss of scalp hair and wrinkled skin of the palms" RELATED OMO:0003005 [] xref: MESH:C535448 {source="Orphanet:2617/e", source="MONDO:equivalentTo", source="Orphanet:2617"} xref: OMIM:210700 {source="Orphanet:2617/e", source="MONDO:equivalentTo", source="Orphanet:2617"} xref: Orphanet:2617 {source="MONDO:equivalentTo", source="OMIM:210700"} xref: UMLS:C1859468 {source="Orphanet:2617/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:210700", source="Orphanet:2617"} is_a: MONDO:0017950 {source="DC-OMIM:210700"} ! microcephalic primordial dwarfism property_value: exactMatch http://identifiers.org/mesh/C535448 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859468 property_value: exactMatch https://omim.org/entry/210700 property_value: exactMatch Orphanet:2617 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:2617"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0008872 name: microcephalic osteodysplastic primordial dwarfism type II def: "A form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." [https://orcid.org/0000-0001-5208-3432, Orphanet:2637] subset: gard_rare {source="GARD:0009844"} subset: ordo_malformation_syndrome {source="Orphanet:2637"} synonym: "Majewski osteodysplastic primordial dwarfism type II" EXACT [DOID:0060609, Orphanet:2637] synonym: "microcephalic osteodysplastic primordial dwarfism type 2" RELATED [GARD:0009844] synonym: "microcephalic osteodysplastic primordial dwarfism with tooth abnormalities" RELATED [GARD:0009844] synonym: "microcephalic osteodysplastic primordial dwarfism, type 2" RELATED [OMIM:210720] synonym: "microcephalic osteodysplastic primordial dwarfism, type II" RELATED [MONDO:Lexical, OMIM:210720] synonym: "Mopd 2" RELATED [OMIM:210720] synonym: "MOPD II" RELATED [GARD:0009844] synonym: "MOPD type II" EXACT [Orphanet:2637] synonym: "MOPD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:210720] synonym: "osteodysplastic primordial dwarfism type 2" RELATED [GARD:0009844] synonym: "osteodysplastic primordial dwarfism type II" EXACT [DOID:0060609] synonym: "osteodysplastic primordial dwarfism, type 2" RELATED [OMIM:210720] xref: DOID:0060609 {source="MONDO:equivalentTo"} xref: MESH:C565898 {source="MONDO:equivalentTo"} xref: OMIM:210720 {source="DOID:0060609", source="Orphanet:2637/e", source="MONDO:equivalentTo", source="Orphanet:2637"} xref: Orphanet:2637 {source="DOID:0060609", source="MONDO:equivalentTo", source="OMIM:210720"} xref: SCTID:254103003 {source="MONDO:equivalentTo"} is_a: EFO:0005571 {source="DOID:0060609", source="MESH:C565898"} ! osteochondrodysplasia is_a: MONDO:0000060 {source="DC-OMIM:210720"} ! microcephalic osteodysplastic primordial dwarfism is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0016565 {source="Orphanet:2637"} ! syndromic genetic obesity is_a: MONDO:0017950 {source="Orphanet:2637"} ! microcephalic primordial dwarfism is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder is_a: MONDO:0957008 ! hereditary cerebral malformation property_value: exactMatch DOID:0060609 property_value: exactMatch http://identifiers.org/mesh/C565898 property_value: exactMatch http://identifiers.org/snomedct/254103003 property_value: exactMatch https://omim.org/entry/210720 property_value: exactMatch Orphanet:2637 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9844/microcephalic-osteodysplastic-primordial-dwarfism-type-2 xsd:anyURI {source="GARD:0009844"} [Term] id: MONDO:0008874 name: Bangstad syndrome def: "Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989." [Orphanet:1227] subset: gard_rare {source="GARD:0000812"} subset: ordo_malformation_syndrome {source="Orphanet:1227"} synonym: "ataxia-diabetes-goiter-gonadal insufficiency syndrome" EXACT [Orphanet:1227] synonym: "Bangstad syndrome" EXACT [OMIM:210740] synonym: "Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter and primary gonadal insufficiency" RELATED [GARD:0000812] synonym: "Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency" RELATED [OMIM:210740] synonym: "Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goitre and primary gonadal insufficiency" RELATED OMO:0003005 [] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537902 {source="MONDO:equivalentTo", source="Orphanet:1227", source="Orphanet:1227/e"} xref: OMIM:210740 {source="MONDO:equivalentTo", source="Orphanet:1227", source="Orphanet:1227/e"} xref: Orphanet:1227 {source="MONDO:equivalentTo", source="OMIM:210740"} xref: SCTID:237614004 {source="MONDO:equivalentTo"} xref: UMLS:C0342284 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:210740", source="Orphanet:1227", source="Orphanet:1227/e"} is_a: MONDO:0015126 {source="Orphanet:1227"} ! polyendocrinopathy property_value: exactMatch http://identifiers.org/mesh/C537902 property_value: exactMatch http://identifiers.org/snomedct/237614004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342284 property_value: exactMatch https://omim.org/entry/210740 property_value: exactMatch Orphanet:1227 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/812/bangstad-syndrome xsd:anyURI {source="GARD:0000812"} [Term] id: MONDO:0008875 name: blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome def: "Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is characterized by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive." [Orphanet:2057] subset: ordo_malformation_syndrome {source="Orphanet:2057"} synonym: "blepharophimosis - ptosis - esotropia - syndactyly - short stature" RELATED [GARD:0000905] synonym: "blepharophimosis with ptosis, syndactyly, and short stature" RELATED [OMIM:210745] synonym: "Frydman Cohen Karmon syndrome" RELATED [GARD:0000905] synonym: "Frydman-Cohen-Karmon syndrome" EXACT [Orphanet:2057] xref: MESH:C536235 {source="MONDO:equivalentTo"} xref: OMIM:210745 {source="Orphanet:2057", source="MONDO:equivalentTo", source="Orphanet:2057/e"} xref: Orphanet:2057 {source="MONDO:equivalentTo", source="OMIM:210745"} xref: SCTID:717914000 {source="MONDO:equivalentTo"} is_a: MONDO:0015161 {source="Orphanet:2057"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0020158 {source="MONDO:0020169-obsoleted"} ! eyelids malposition disorder property_value: exactMatch http://identifiers.org/mesh/C536235 property_value: exactMatch http://identifiers.org/snomedct/717914000 property_value: exactMatch https://omim.org/entry/210745 property_value: exactMatch Orphanet:2057 [Term] id: MONDO:0008876 name: Bloom syndrome def: "Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." [Orphanet:125] subset: gard_rare {source="GARD:0000915"} subset: ordo_disease {source="Orphanet:125"} synonym: "BLM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:210900] synonym: "Bloom syndrome" EXACT [MONDO:Lexical, OMIM:210900] synonym: "Bloom-Torre-Machacek syndrome" EXACT [DOID:2717] synonym: "BLS" RELATED ABBREVIATION [GARD:0000915] synonym: "BS" RELATED ABBREVIATION [OMIM:210900] synonym: "BSyn" EXACT [Orphanet:125] synonym: "congenital telangiectatic erythema" RELATED [GARD:0000915] synonym: "congenital telangiectatic erythema syndrome" EXACT [DOID:2717, NCIT:C2903] synonym: "growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability" RELATED [GARD:0000915] synonym: "MGRISCE1" RELATED ABBREVIATION [MONDO:cjm] synonym: "microcephaly, growth restriction, and increased sister chromatid exchange 1" RELATED [OMIM:210900] xref: DOID:2717 {source="MONDO:equivalentTo"} xref: ICD10CM:Q82.2 {source="Orphanet:125", source="Orphanet:125/index", source="Orphanet:125/ntbt", source="MONDO:directSiblingOf"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D001816 {source="Orphanet:125", source="MONDO:equivalentTo", source="Orphanet:125/e", source="DOID:2717"} xref: NCIT:C2903 {source="MONDO:equivalentTo", source="DOID:2717"} xref: OMIM:210900 {source="Orphanet:125", source="MONDO:equivalentTo", source="Orphanet:125/e", source="DOID:2717"} xref: Orphanet:125 {source="MONDO:equivalentTo", source="OMIM:210900", source="DOID:2717"} xref: SCTID:4434006 {source="MONDO:equivalentTo", source="DOID:2717"} xref: UMLS:C0005859 {source="Orphanet:125", source="NCIT:C2903", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:125/e", source="OMIM:210900", source="DOID:2717"} is_a: EFO:1000017 {source="DOID:2717", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015950 ! inherited skin tumor is_a: MONDO:0015951 {source="Orphanet:125", source="PMID:27745641"} ! hereditary photodermatosis is_a: MONDO:0019044 {source="Orphanet:125"} ! tumor of hematopoietic and lymphoid tissues is_a: MONDO:0020629 {source="OMIM:210900"} ! microcephaly, growth restriction and increased sister chromatid exchange is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:125", source="Orphanet:125/inferred"} ! disorder of development or morphogenesis property_value: closeMatch http://purl.bioontology.org/ontology/ICD10CM/Q82.2 property_value: exactMatch DOID:2717 property_value: exactMatch http://identifiers.org/mesh/D001816 property_value: exactMatch http://identifiers.org/snomedct/4434006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005859 property_value: exactMatch https://omim.org/entry/210900 property_value: exactMatch NCIT:C2903 property_value: exactMatch Orphanet:125 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/915/bloom-syndrome xsd:anyURI {source="GARD:0000915"} [Term] id: MONDO:0008877 name: blue diaper syndrome def: "Blue Diaper syndrome is a hereditary metabolic disorder characterized by hypercalcaemia with nephrocalcinosis and indicanuria." [Orphanet:94086] subset: gard_rare {source="GARD:0005939"} subset: ordo_disease {source="Orphanet:94086"} synonym: "blue diaper syndrome" EXACT [OMIM:211000] synonym: "Drummond syndrome" EXACT [Orphanet:94086] synonym: "familial hypercalcemia-nephrocalcinosis-indicanuria syndrome" EXACT [Orphanet:94086] synonym: "hypercalcemia, familial, with nephrocalcinosis and indicanuria" RELATED [OMIM:211000] xref: MESH:C536239 {source="Orphanet:94086/e", source="MONDO:equivalentTo", source="Orphanet:94086"} xref: OMIM:211000 {source="Orphanet:94086/e", source="MONDO:equivalentTo", source="Orphanet:94086"} xref: Orphanet:94086 {source="OMIM:211000", source="MONDO:equivalentTo"} xref: SCTID:59531002 {source="MONDO:equivalentTo"} xref: UMLS:C0268478 {source="OMIM:211000", source="Orphanet:94086/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:94086"} is_a: MONDO:0019216 {source="Orphanet:94086", source="PMID:33340416"} ! inborn disorder of amino acid transport property_value: exactMatch http://identifiers.org/mesh/C536239 property_value: exactMatch http://identifiers.org/snomedct/59531002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268478 property_value: exactMatch https://omim.org/entry/211000 property_value: exactMatch Orphanet:94086 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5939/blue-diaper-syndrome xsd:anyURI {source="GARD:0005939"} [Term] id: MONDO:0008878 name: bone dysplasia, lethal Holmgren type def: "Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three siblings from healthy, non-consanguineous parents of Finnish and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description of BDLH in the literature since 1988." [Orphanet:1842] subset: gard_rare {source="GARD:0000922"} subset: ordo_malformation_syndrome {source="Orphanet:1842"} synonym: "autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type" EXACT [Orphanet:1842] synonym: "bone dysplasia lethal Holmgren type" RELATED [GARD:0000922] synonym: "bone dysplasia, lethal, Holmgren type" RELATED [OMIM:211120] xref: MESH:C565896 {source="MONDO:equivalentTo"} xref: OMIM:211120 {source="MONDO:equivalentTo", source="Orphanet:1842", source="Orphanet:1842/e"} xref: Orphanet:1842 {source="OMIM:211120", source="MONDO:equivalentTo"} xref: SCTID:732249002 {source="MONDO:equivalentTo"} xref: UMLS:C1859407 {source="OMIM:211120", source="MONDO:equivalentTo", source="Orphanet:1842", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019718 {source="Orphanet:1842"} ! lethal chondrodysplasia property_value: exactMatch http://identifiers.org/mesh/C565896 property_value: exactMatch http://identifiers.org/snomedct/732249002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859407 property_value: exactMatch https://omim.org/entry/211120 property_value: exactMatch Orphanet:1842 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/922/bone-dysplasia-lethal-holmgren-type xsd:anyURI {source="GARD:0000922"} [Term] id: MONDO:0008879 name: Bowen-Conradi syndrome def: "Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet." [Orphanet:1270] subset: gard_rare {source="GARD:0005950"} subset: ordo_malformation_syndrome {source="Orphanet:1270"} synonym: "Bowen Hutterite syndrome" RELATED [OMIM:211180] synonym: "Bowen Hutterite syndrome (formerly)" RELATED [GARD:0005950] synonym: "Bowen Hutterite syndrome, formerly" RELATED [OMIM:211180] synonym: "Bowen syndrome, Hutterite type" EXACT [Orphanet:1270] synonym: "Bowen-Conradi Hutterite syndrome" RELATED [GARD:0005950] synonym: "Bowen-Conradi syndrome" EXACT [MONDO:Lexical, OMIM:211180] synonym: "BWCNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:211180] xref: DOID:0050684 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537081 {source="Orphanet:1270/e", source="MONDO:equivalentTo", source="Orphanet:1270"} xref: OMIM:211180 {source="DOID:0050684", source="Orphanet:1270/e", source="MONDO:equivalentTo", source="Orphanet:1270"} xref: Orphanet:1270 {source="MONDO:equivalentTo", source="OMIM:211180"} xref: SCTID:711153001 {source="MONDO:equivalentTo"} xref: UMLS:C1859405 {source="Orphanet:1270/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1270", source="OMIM:211180"} is_a: EFO:1000017 {source="DOID:0050684", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015159 {source="Orphanet:1270"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch DOID:0050684 property_value: exactMatch http://identifiers.org/mesh/C537081 property_value: exactMatch http://identifiers.org/snomedct/711153001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859405 property_value: exactMatch https://omim.org/entry/211180 property_value: exactMatch Orphanet:1270 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1270"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5950/bowen-conradi-syndrome xsd:anyURI {source="GARD:0005950"} [Term] id: MONDO:0008881 name: kyphomelic dysplasia def: "Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized bythe following: a disproportionately short stature with a short narrow chest,shortening and bending (bowing)of the limbs, flared irregular metaphyses of the bones, and characteristicfacial features.Bone changes are said to improve with age.Kyphomelic dysplasia is inherited in an autosomal recessive pattern. Recent studies indicate that Kyphomelic dysplasia is no longerconsidered it's ownentity and that individual cases should be further evaluated andre-classified as another existing chondrodysplasias, such as Schwartz-Jampel syndrome." [https://rarediseases.info.nih.gov/diseases/10149/kyphomelic-dysplasia] subset: gard_rare {source="GARD:0010149"} subset: ordo_malformation_syndrome {source="Orphanet:1801"} synonym: "bowing, congenital, with short bones" RELATED [OMIM:211350] synonym: "congenital bowing with short bones" RELATED [GARD:0010149] synonym: "kyphomelic dysplasia" EXACT [OMIM:211350] xref: ICD9:733.29 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538128 {source="Orphanet:1801/e", source="MONDO:equivalentTo", source="Orphanet:1801"} xref: OMIM:211350 {source="Orphanet:1801/e", source="MONDO:equivalentTo", source="Orphanet:1801"} xref: Orphanet:1801 {source="OMIM:211350", source="MONDO:equivalentTo"} xref: SCTID:254096001 {source="MONDO:equivalentTo"} xref: UMLS:C0432239 {source="Orphanet:1801/e", source="OMIM:211350", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1801"} is_a: MONDO:0019698 {source="Orphanet:1801", source="PMID:31633310"} ! bent bone dysplasia property_value: exactMatch http://identifiers.org/mesh/C538128 property_value: exactMatch http://identifiers.org/snomedct/254096001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432239 property_value: exactMatch https://omim.org/entry/211350 property_value: exactMatch Orphanet:1801 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10149/kyphomelic-dysplasia xsd:anyURI {source="GARD:0010149"} [Term] id: MONDO:0008882 name: congenital bowing of long bones def: "Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae." [Orphanet:2292] subset: gard_rare {source="GARD:0000953"} subset: ordo_morphological_anomaly {source="Orphanet:2292"} synonym: "bowing of long bones congenital" RELATED [GARD:0000953] synonym: "bowing of long bones, asymmetric and symmetric" RELATED [OMIM:211355] xref: MedDRA:10054064 {source="Orphanet:2292/e", source="Orphanet:2292"} xref: OMIM:211355 {source="Orphanet:2292/e", source="MONDO:equivalentTo", source="Orphanet:2292"} xref: Orphanet:2292 {source="MONDO:equivalentTo", source="OMIM:211355"} xref: SCTID:716098006 {source="MONDO:equivalentTo"} is_a: MONDO:0017427 {source="Orphanet:2292"} ! congenital deformities of limbs is_a: MONDO:0019698 {source="Orphanet:2292"} ! bent bone dysplasia property_value: closeMatch http://identifiers.org/meddra/10054064 property_value: exactMatch http://identifiers.org/snomedct/716098006 property_value: exactMatch https://omim.org/entry/211355 property_value: exactMatch Orphanet:2292 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/953/bowing-of-long-bones-congenital xsd:anyURI {source="GARD:0000953"} [Term] id: MONDO:0008884 name: oculoosteocutaneous syndrome def: "A syndrome is characterized by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive." [Orphanet:2713] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2713"} synonym: "anodontia-hypotrichosis syndrome" EXACT [OMIM:211370] synonym: "brachymetapody anodontia hypotrichosis albinoidism" EXACT [MONDO:0022605] synonym: "BRACHYMETAPODY-anodontia-hypotrichosis-ALBINOIDISM" EXACT [OMIM:211370] synonym: "oculoosteocutaneous syndrome" EXACT [OMIM:211370] xref: MESH:C565893 {source="MONDO:equivalentTo"} xref: OMIM:211370 {source="MONDO:equivalentTo", source="Orphanet:2713", source="Orphanet:2713/e"} xref: Orphanet:2713 {source="OMIM:211370", source="MONDO:equivalentTo"} xref: SCTID:722061006 {source="MONDO:equivalentTo"} xref: UMLS:C1859385 {source="OMIM:211370", source="GARD:0000992", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2713"} is_a: MONDO:0019287 {source="Orphanet:2713"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C565893 property_value: exactMatch http://identifiers.org/snomedct/722061006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859385 property_value: exactMatch https://omim.org/entry/211370 property_value: exactMatch Orphanet:2713 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3687 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/992/brachymetapody-anodontia-hypotrichosis-albinoidism xsd:anyURI {source="GARD:0000992"} [Term] id: MONDO:0008885 name: Elsahy-Waters syndrome def: "An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971." [Orphanet:1299] subset: ordo_malformation_syndrome {source="Orphanet:1299"} synonym: "brachioskeletogenital syndrome" EXACT [OMIM:211380] synonym: "branchio-skeleto-genital syndrome" RELATED [GARD:0000955] synonym: "BSG syndrome" EXACT [OMIM:211380, Orphanet:1299] synonym: "ELSAHY-Waters syndrome" EXACT [OMIM:211380] synonym: "Elsahy-Waters syndrome" EXACT [Orphanet:1299] synonym: "ESWS" EXACT ABBREVIATION [OMIM:211380] synonym: "hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss" EXACT [MONDO:0011324] synonym: "hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss" EXACT [OMIM:603463] synonym: "hypospadias-hypertelorism-coloboma and deafness syndrome" EXACT [Orphanet:157788] xref: DOID:0080631 {source="MONDO:equivalentTo"} xref: MESH:C537084 {source="MONDO:equivalentTo"} xref: MESH:C566373 {source="MONDO:equivalentTo"} xref: OMIM:211380 {source="Orphanet:1299", source="MONDO:equivalentTo", source="Orphanet:1299/e"} xref: OMIM:603463 {source="MONDO:equivalentObsolete"} xref: Orphanet:1299 {source="OMIM:211380", source="MONDO:equivalentTo"} xref: Orphanet:157788 {source="MONDO:equivalentObsolete", source="OMIM:603463"} xref: SCTID:719097002 {source="MONDO:equivalentTo"} xref: UMLS:C1863870 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:603463"} is_a: EFO:0000508 {source="Orphanet:157788/inferred"} ! genetic disorder is_a: MONDO:0015159 {source="Orphanet:1299"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015620 {source="Orphanet:1299"} ! syndromic urogenital tract malformation property_value: exactMatch DOID:0080631 property_value: exactMatch http://identifiers.org/mesh/C537084 property_value: exactMatch http://identifiers.org/mesh/C566373 property_value: exactMatch http://identifiers.org/snomedct/719097002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863870 property_value: exactMatch https://omim.org/entry/211380 property_value: exactMatch Orphanet:1299 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1299"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0008887 name: bronchiectasis with or without elevated sweat chloride 1 synonym: "BESC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:211400] synonym: "bronchiectasis with or without elevated sweat chloride 1" EXACT [MONDO:Lexical, OMIM:211400] synonym: "bronchiectasis with or without elevated sweat chloride 1, modifier of" EXACT [OMIM:211400, OMIM:genemap2] synonym: "bronchiectasis with or without elevated sweat chloride type 1" EXACT [MONDORULE:1, OMIM:211400] synonym: "cystic fibrosis-like syndrome" RELATED [OMIM:211400] xref: DOID:0080526 {source="MONDO:equivalentTo"} xref: MESH:C567618 {source="MONDO:equivalentTo"} xref: OMIM:211400 {source="MONDO:equivalentTo"} xref: UMLS:C2749757 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:211400"} is_a: MONDO:0018956 {source="Orphanet:60033/btnt"} ! idiopathic bronchiectasis property_value: exactMatch DOID:0080526 property_value: exactMatch http://identifiers.org/mesh/C567618 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2749757 property_value: exactMatch https://omim.org/entry/211400 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008891 name: riboflavin transporter deficiency def: "A progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy." [Orphanet:97229] subset: ordo_malformation_syndrome {source="Orphanet:97229"} synonym: "Brown-Vialetto-van Laere syndrome" EXACT [Orphanet:97229] synonym: "Brown-Vialetto-Van Laere syndrome 1" NARROW [MONDO:Lexical, OMIM:211530] synonym: "BVVLS" RELATED ABBREVIATION [GARD:0009993] synonym: "BVVLS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:211530] synonym: "disorder of riboflavin transmembrane transporter activity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "Fazio-Londe syndrome" EXACT [PMID:29473049] synonym: "pontobulbar palsy and neurosensory deafness" RELATED [GARD:0009993] synonym: "progressive bulbar palsy with sensorineural deafness" RELATED [GARD:0009993] synonym: "riboflavin transmembrane transporter activity disease" EXACT [MONDO:design_pattern] synonym: "sensorineural hearing loss-pontobulbar palsy syndrome" EXACT [Orphanet:97229] xref: DOID:0050694 {source="MONDO:equivalentTo"} xref: MESH:C537111 {source="MONDO:equivalentTo", source="Orphanet:97229", source="Orphanet:97229/e"} xref: OMIMPS:211530 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:97229 {source="MONDO:equivalentTo", source="OMIM:211530"} xref: SCTID:699866005 {source="MONDO:equivalentTo"} is_a: MONDO:0024257 ! hereditary motor neuron disease relationship: disease_has_major_feature MONDO:0016113 ! bulbospinal muscular atrophy property_value: exactMatch DOID:0050694 property_value: exactMatch http://identifiers.org/mesh/C537111 property_value: exactMatch http://identifiers.org/snomedct/699866005 property_value: exactMatch https://omim.org/phenotypicSeries/PS211530 property_value: exactMatch Orphanet:97229 property_value: excluded_subClassOf MONDO:0016114 {source="Orphanet:97229"} property_value: excluded_subClassOf MONDO:0019589 {source="Orphanet:97229"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9993/riboflavin-transporter-deficiency xsd:string [Term] id: MONDO:0008892 name: progressive familial intrahepatic cholestasis type 1 def: "PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features." [Orphanet:79306] subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:79306"} synonym: "Byler disease" EXACT [Orphanet:79306] synonym: "Byler's disease" RELATED [GARD:0009802] synonym: "cholestasis, fatal intrahepatic" RELATED [GARD:0009802] synonym: "cholestasis, progressive familial intrahepatic 1" EXACT [OMIM:211600, OMIM:genemap2] synonym: "cholestasis, progressive familial intrahepatic, 1" RELATED [MONDO:Lexical, OMIM:211600] synonym: "cholestasis, progressive familial intrahepatic, type 1" EXACT [MONDORULE:1, OMIM:211600] synonym: "FIC1 deficiency" EXACT [Orphanet:79306] synonym: "PFIC1" EXACT ABBREVIATION [GARD:0009802, MONDO:Lexical, OMIM:211600, Orphanet:79306] synonym: "progressive familial intrahepatic cholestasis" RELATED [GARD:0009802] synonym: "severe ATP8B1 deficiency" RELATED [GARD:0009802] xref: DOID:0070226 {source="MONDO:equivalentTo"} xref: OMIM:211600 {source="Orphanet:79306", source="GARD:0009802", source="MONDO:equivalentTo", source="Orphanet:79306/e"} xref: Orphanet:79306 {source="GARD:0009802", source="MONDO:equivalentTo", source="OMIM:211600"} xref: UMLS:CN205891 {source="MONDO:equivalentTo"} is_a: MONDO:0015762 {source="OMIM:211600", source="Orphanet:79306"} ! progressive familial intrahepatic cholestasis property_value: exactMatch DOID:0070226 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205891 property_value: exactMatch https://omim.org/entry/211600 property_value: exactMatch Orphanet:79306 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008893 name: C syndrome def: "C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability." [Orphanet:1308] subset: gard_rare {source="GARD:0005978"} subset: ordo_malformation_syndrome {source="Orphanet:1308"} synonym: "C syndrome" EXACT [OMIM:211750] synonym: "Opitz C trigonocephaly" EXACT [Orphanet:1308] synonym: "Opitz trigonocephaly C syndrome" EXACT [Orphanet:1308] synonym: "Opitz trigonocephaly syndrome" EXACT [OMIM:211750, Orphanet:1308] synonym: "OTCS" EXACT ABBREVIATION [Orphanet:1308] synonym: "trigonocephaly C syndrome" EXACT [Orphanet:1308] synonym: "trigonocephaly syndrome" RELATED [OMIM:211750] xref: DOID:0111581 {source="MONDO:equivalentTo"} xref: MESH:C537418 {source="MONDO:equivalentTo"} xref: OMIM:211750 {source="Orphanet:1308/e", source="MONDO:equivalentTo", source="Orphanet:1308"} xref: Orphanet:1308 {source="MONDO:equivalentTo", source="OMIM:211750"} xref: SCTID:715409005 {source="MONDO:equivalentTo"} xref: UMLS:C0796095 {source="MONDO:equivalentTo", source="OMIM:211750", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1308"} is_a: MONDO:0015159 {source="Orphanet:1308"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015338 {source="Orphanet:1308"} ! syndromic craniosynostosis property_value: exactMatch DOID:0111581 property_value: exactMatch http://identifiers.org/mesh/C537418 property_value: exactMatch http://identifiers.org/snomedct/715409005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796095 property_value: exactMatch https://omim.org/entry/211750 property_value: exactMatch Orphanet:1308 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1308"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5978/c-syndrome xsd:anyURI {source="GARD:0005978"} [Term] id: MONDO:0008894 name: cataract-hypertrichosis-intellectual disability syndrome def: "Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait." [Orphanet:1375] subset: ordo_malformation_syndrome {source="Orphanet:1375"} synonym: "CAHMR syndrome" EXACT [OMIM:211770, Orphanet:1375] synonym: "cataract, hypertrichosis, intellectual disability syndrome" RELATED [OMIM:211770] synonym: "cataract, hypertrichosis, mental retardation syndrome" RELATED DEPRECATED [OMIM:211770] xref: MESH:C537959 {source="MONDO:equivalentTo"} xref: OMIM:211770 {source="Orphanet:1375", source="MONDO:equivalentTo", source="Orphanet:1375/e"} xref: Orphanet:1375 {source="OMIM:211770", source="MONDO:equivalentTo"} xref: SCTID:722379001 {source="MONDO:equivalentTo"} xref: UMLS:C0796282 {source="Orphanet:1375", source="OMIM:211770", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019280 {source="MESH:C537959", source="Orphanet:1375"} ! hypertrichosis is_a: MONDO:0019287 {source="Orphanet:1375"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C537959 property_value: exactMatch http://identifiers.org/snomedct/722379001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796282 property_value: exactMatch https://omim.org/entry/211770 property_value: exactMatch Orphanet:1375 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:1375"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0008895 name: hereditary arterial and articular multiple calcification syndrome def: "Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints." [Orphanet:289601] subset: ordo_disease {source="Orphanet:289601"} synonym: "ACDC" RELATED ABBREVIATION [GARD:0010762] synonym: "arterial calcification and distal joint calcification" RELATED [GARD:0010762] synonym: "arterial calcification due to CD73 deficiency" RELATED [GARD:0010762] synonym: "arterial calcification due to deficiency of Cd73" RELATED [OMIM:211800] synonym: "calcification of joints and arteries" EXACT [MONDO:Lexical, OMIM:211800, Orphanet:289601] synonym: "CALJA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:211800, Orphanet:289601] xref: DOID:0111582 {source="MONDO:equivalentTo"} xref: MESH:C565891 {source="MONDO:equivalentTo"} xref: OMIM:211800 {source="MONDO:equivalentTo", source="Orphanet:289601", source="Orphanet:289601/e"} xref: Orphanet:289601 {source="MONDO:equivalentTo", source="OMIM:211800"} xref: SCTID:718602007 {source="MONDO:equivalentTo"} xref: UMLS:C1859372 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:211800"} xref: UMLS:C4305347 {source="MONDO:equivalentTo"} is_a: EFO:0004264 {source="Orphanet:289601"} ! vascular disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0016517"} ! rare property_value: exactMatch DOID:0111582 property_value: exactMatch http://identifiers.org/mesh/C565891 property_value: exactMatch http://identifiers.org/snomedct/718602007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859372 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305347 property_value: exactMatch https://omim.org/entry/211800 property_value: exactMatch Orphanet:289601 [Term] id: MONDO:0008896 name: campomelia, Cumming type def: "Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies." [Orphanet:1318] subset: gard_rare {source="GARD:0001061"} subset: ordo_malformation_syndrome {source="Orphanet:1318"} synonym: "campomelia Cumming type" RELATED [GARD:0001061] synonym: "campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys" RELATED [GARD:0001061] synonym: "campomelia, Cumming type" EXACT [OMIM:211890] synonym: "cervical lymphocele with bowed long bones" RELATED [OMIM:211890] synonym: "Cumming syndrome" RELATED [OMIM:211890] xref: MESH:C537966 {source="Orphanet:1318/e", source="MONDO:equivalentTo", source="Orphanet:1318"} xref: OMIM:211890 {source="Orphanet:1318/e", source="MONDO:equivalentTo", source="Orphanet:1318"} xref: Orphanet:1318 {source="OMIM:211890", source="MONDO:equivalentTo"} xref: SCTID:720599002 {source="MONDO:equivalentTo"} xref: UMLS:C1859371 {source="Orphanet:1318/e", source="OMIM:211890", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1318"} is_a: MONDO:0015160 {source="Orphanet:1318"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0019313 ! lymphatic malformation is_a: MONDO:0019520 {source="MONDO:Redundant", source="Orphanet:1318"} ! syndromic lymphedema is_a: MONDO:0019698 {source="Orphanet:1318"} ! bent bone dysplasia property_value: exactMatch http://identifiers.org/mesh/C537966 property_value: exactMatch http://identifiers.org/snomedct/720599002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859371 property_value: exactMatch https://omim.org/entry/211890 property_value: exactMatch Orphanet:1318 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1061/campomelia-cumming-type xsd:anyURI {source="GARD:0001061"} [Term] id: MONDO:0008898 name: camptodactyly syndrome, Guadalajara type 1 def: "Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies." [Orphanet:1327] subset: gard_rare {source="GARD:0001067"} subset: ordo_malformation_syndrome {source="Orphanet:1327"} synonym: "camptodactyly syndrome Guadalajara type 1" RELATED [GARD:0001067] synonym: "camptodactyly syndrome, Guadalajara, type 1" RELATED [OMIM:211910] synonym: "camptodactyly syndrome, Guadalajara, type I" RELATED [MONDO:Lexical, OMIM:211910] synonym: "faciothoracoskeletal syndrome" RELATED [OMIM:211910] synonym: "FTSS" RELATED ABBREVIATION [GARD:0001067] synonym: "GCS 1" RELATED [GARD:0001067] synonym: "GCS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:211910] xref: MESH:C537970 {source="MONDO:equivalentTo", source="Orphanet:1327", source="Orphanet:1327/e"} xref: OMIM:211910 {source="MONDO:equivalentTo", source="Orphanet:1327", source="Orphanet:1327/e"} xref: Orphanet:1327 {source="MONDO:equivalentTo", source="OMIM:211910"} xref: SCTID:720602007 {source="MONDO:equivalentTo"} xref: UMLS:C1859359 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1327", source="OMIM:211910"} is_a: MONDO:0000111 {source="DC-OMIM:211910"} ! camptodactyly syndrome, Guadalajara is_a: MONDO:0015161 {source="Orphanet:1327"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C537970 property_value: exactMatch http://identifiers.org/snomedct/720602007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859359 property_value: exactMatch https://omim.org/entry/211910 property_value: exactMatch Orphanet:1327 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1067/camptodactyly-syndrome-guadalajara-type-1 xsd:anyURI {source="GARD:0001067"} [Term] id: MONDO:0008899 name: camptodactyly syndrome, Guadalajara type 2 def: "Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985." [Orphanet:1326] subset: gard_rare {source="GARD:0001068"} subset: ordo_malformation_syndrome {source="Orphanet:1326"} synonym: "camptodactyly syndrome Guadalajara type 2" RELATED [GARD:0001068] synonym: "camptodactyly syndrome, Guadalajara, type 2" RELATED [OMIM:211920] synonym: "camptodactyly syndrome, Guadalajara, type II" RELATED [OMIM:211920] synonym: "Guadalajara camptodactyly syndrome type II" RELATED [GARD:0001068] xref: MESH:C567138 {source="MONDO:equivalentTo"} xref: OMIM:211920 {source="MONDO:equivalentTo", source="Orphanet:1326", source="Orphanet:1326/e"} xref: Orphanet:1326 {source="MONDO:equivalentTo", source="OMIM:211920"} xref: SCTID:720603002 {source="MONDO:equivalentTo"} is_a: MONDO:0000111 {source="DC-OMIM:211920"} ! camptodactyly syndrome, Guadalajara is_a: MONDO:0015161 {source="Orphanet:1326"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0018454 ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation property_value: exactMatch http://identifiers.org/mesh/C567138 property_value: exactMatch http://identifiers.org/snomedct/720603002 property_value: exactMatch https://omim.org/entry/211920 property_value: exactMatch Orphanet:1326 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1068/camptodactyly-syndrome-guadalajara-type-2 xsd:anyURI {source="GARD:0001068"} [Term] id: MONDO:0008901 name: Tel Hashomer camptodactyly syndrome def: "Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics." [Orphanet:3292, PMID:24171333] subset: gard_rare {source="GARD:0005128"} subset: ordo_malformation_syndrome {source="Orphanet:3292"} synonym: "camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases" RELATED [OMIM:211960] synonym: "Tel Hashomer camptodactyly syndrome" EXACT [OMIM:211960] xref: MESH:C536953 {source="Orphanet:3292/e", source="MONDO:equivalentTo", source="Orphanet:3292"} xref: OMIM:211960 {source="Orphanet:3292/e", source="MONDO:equivalentTo", source="Orphanet:3292"} xref: Orphanet:3292 {source="MONDO:equivalentTo", source="OMIM:211960"} xref: SCTID:719946008 {source="MONDO:equivalentTo"} xref: UMLS:C1859356 {source="Orphanet:3292/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:211960", source="Orphanet:3292"} is_a: MONDO:0020120 {source="Orphanet:3292", source="Orphanet:3292/inferred"} ! skeletal muscle disorder property_value: exactMatch http://identifiers.org/mesh/C536953 property_value: exactMatch http://identifiers.org/snomedct/719946008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859356 property_value: exactMatch https://omim.org/entry/211960 property_value: exactMatch Orphanet:3292 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5128/tel-hashomer-camptodactyly-syndrome xsd:anyURI {source="GARD:0005128"} [Term] id: MONDO:0008903 name: lung cancer def: "A malignant neoplasm involving the lung." [https://orcid.org/0000-0002-6601-2165] synonym: "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation" EXACT [OMIM:211980, OMIM:genemap2] synonym: "adenocarcinoma of lung, somatic" EXACT [OMIM:211980, OMIM:genemap2] synonym: "alveolar cell carcinoma" RELATED [OMIM:211980] synonym: "cancer of lung" EXACT [MONDO:patterns/cancer] synonym: "lung cancer" EXACT [MONDO:patterns/location] synonym: "lung cancer, protection against" RELATED [OMIM:211980] synonym: "lung cancer, protection against, autosomal dominant, somatic mutation" EXACT [OMIM:211980, OMIM:genemap2] synonym: "lung cancer, resistance to, autosomal dominant, somatic mutation" EXACT [OMIM:211980, OMIM:genemap2] synonym: "lung cancer, somatic" EXACT [OMIM:211980, OMIM:genemap2] synonym: "lung cancer, susceptibility to, autosomal dominant, somatic mutation" EXACT [OMIM:211980, OMIM:genemap2] synonym: "lung neoplasm" RELATED [DOID:1324] synonym: "malignant lung neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant lung tumor" EXACT [NCIT:C7377] synonym: "malignant lung tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of lung" EXACT [MONDO:patterns/cancer, NCIT:C7377] synonym: "malignant neoplasm of the lung" EXACT [NCIT:C7377] synonym: "malignant tumor of lung" EXACT [NCIT:C7377] synonym: "malignant tumor of the lung" EXACT [NCIT:C7377] synonym: "malignant tumour of lung" EXACT OMO:0003005 [] synonym: "malignant tumour of the lung" EXACT OMO:0003005 [] synonym: "Nonsmall cell lung cancer" RELATED [OMIM:211980] synonym: "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation" EXACT [OMIM:211980, OMIM:genemap2] synonym: "nonsmall cell lung cancer, somatic" EXACT [OMIM:211980, OMIM:genemap2] synonym: "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation" EXACT [OMIM:211980, OMIM:genemap2] xref: DOID:1324 {source="MONDO:equivalentTo"} xref: ICD9:162.3 {source="DOID:1324"} xref: ICD9:162.4 {source="DOID:1324"} xref: ICD9:162.5 {source="DOID:1324"} xref: ICD9:162.8 {source="MONDO:relatedTo", source="DOID:1324", source="MONDO:i2s"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C7377 {source="MONDO:equivalentTo"} xref: OMIM:211980 {source="DOID:1324", source="MONDO:equivalentTo"} xref: SCTID:363358000 {source="MONDO:equivalentTo"} is_a: MONDO:0000376 {source="DOID:1324", source="MONDO:Redundant"} ! respiratory system cancer is_a: MONDO:0003274 {source="MONDO:Redundant", source="NCIT:C7377"} ! thoracic cancer is_a: MONDO:0021117 {source="MONDO:Redundant", source="NCIT:C7377"} ! lung neoplasm property_value: exactMatch DOID:1324 property_value: exactMatch http://identifiers.org/snomedct/363358000 property_value: exactMatch https://omim.org/entry/211980 property_value: exactMatch NCIT:C7377 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008905 name: predisposition to invasive fungal disease due to CARD9 deficiency subset: ordo_disease {source="Orphanet:457088"} synonym: "CANDF2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:212050] synonym: "candidiasis familial chronic mucocutaneous, autosomal recessive" RELATED [GARD:0001077] synonym: "candidiasis, familial chronic mucocutaneous, autosomal recessive" RELATED [OMIM:212050] synonym: "candidiasis, familial, 2" RELATED [MONDO:Lexical, OMIM:212050] synonym: "candidiasis, familial, 2, autosomal recessive" EXACT [OMIM:212050, OMIM:genemap2] synonym: "candidiasis, familial, type 2" EXACT [MONDORULE:1, OMIM:212050] synonym: "CARD9 deficiency" RELATED [GARD:0001077] synonym: "CARD9 immunodeficiency" RELATED [OMIM:212050] synonym: "invasive candidiasis-deep dermatophytosis syndrome" EXACT [Orphanet:457088] xref: OMIM:212050 {source="Orphanet:457088/e", source="MONDO:equivalentTo", source="Orphanet:457088"} xref: Orphanet:457088 {source="MONDO:equivalentTo"} xref: UMLS:C1859353 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:212050"} is_a: MONDO:0015979 {source="MONDO:Redundant", source="Orphanet:457088"} ! hereditary predisposition to infections property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859353 property_value: exactMatch https://omim.org/entry/212050 property_value: exactMatch Orphanet:457088 property_value: excluded_subClassOf MONDO:0015279 {source="OMIM:212050"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008907 name: PMM2-congenital disorder of glycosylation def: "The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults." [Orphanet:79318] subset: ordo_disease {source="Orphanet:79318"} synonym: "carbohydrate deficient glycoprotein syndrome type Ia" EXACT [Orphanet:79318] synonym: "carbohydrate-deficient glycoprotein syndrome type 1A" RELATED [GARD:0009826] synonym: "carbohydrate-deficient glycoprotein syndrome type 1A (formerly)" RELATED [GARD:0009826] synonym: "carbohydrate-deficient glycoprotein syndrome, type Ia" RELATED [OMIM:212065] synonym: "carbohydrate-deficient glycoprotein syndrome, type Ia, formerly" RELATED [OMIM:212065] synonym: "CDG 1A" EXACT [GARD:0009826, OMIM:212065] synonym: "CDG syndrome type Ia" EXACT [Orphanet:79318] synonym: "CDG-IA" EXACT [Orphanet:79318] synonym: "CDG1A" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C126868, OMIM:212065, Orphanet:79318] synonym: "congenital disorder of glycosylation type 1a" EXACT [Orphanet:79318] synonym: "congenital disorder of glycosylation type Ia" EXACT [Orphanet:79318] synonym: "congenital disorder of glycosylation, type Ia" RELATED [MONDO:Lexical, OMIM:212065] synonym: "Jaeken syndrome" RELATED [OMIM:212065] synonym: "phosphomannomutase 2 deficiency" EXACT [OMIM:212065, Orphanet:79318] synonym: "PMM2-CDG" EXACT ABBREVIATION [Orphanet:79318] synonym: "PMM2-CDG (CDG-Ia)" RELATED [GARD:0009826] synonym: "PMM2-congenital disorder of glycosylation" EXACT [] xref: DOID:0080552 {source="MONDO:equivalentTo"} xref: MESH:C535739 {source="MONDO:equivalentTo"} xref: NCIT:C126868 {source="MONDO:equivalentTo"} xref: OMIM:212065 {source="Orphanet:79318", source="MONDO:equivalentTo", source="Orphanet:79318/e"} xref: Orphanet:79318 {source="OMIM:212065", source="MONDO:equivalentTo"} xref: SCTID:459063003 {source="MONDO:equivalentTo"} xref: UMLS:C0349653 {source="OMIM:212065", source="Orphanet:79318", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C126868"} is_a: EFO:0005545 {source="DC-OMIM:212065"} ! congenital disorder of glycosylation type I is_a: MONDO:0017740 {source="Orphanet:79318"} ! disorder of protein N-glycosylation relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch DOID:0080552 property_value: exactMatch http://identifiers.org/mesh/C535739 property_value: exactMatch http://identifiers.org/snomedct/459063003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349653 property_value: exactMatch https://omim.org/entry/212065 property_value: exactMatch NCIT:C126868 property_value: exactMatch Orphanet:79318 property_value: excluded_subClassOf MONDO:0005093 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5682 xsd:anyURI [Term] id: MONDO:0008908 name: MGAT2-congenital disorder of glycosylation def: "MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21)." [Orphanet:79329] subset: ordo_disease {source="Orphanet:79329"} synonym: "Alkuraya syndrome" RELATED [OMIM:212066] synonym: "carbohydrate deficient glycoprotein syndrome type IIa" EXACT [Orphanet:79329] synonym: "carbohydrate-deficient glycoprotein syndrome type 2" RELATED [GARD:0009828] synonym: "carbohydrate-deficient glycoprotein syndrome, type II" RELATED [OMIM:212066] synonym: "carbohydrate-deficient glycoprotein syndrome, type II, formerly" RELATED [OMIM:212066] synonym: "carbohydrate-deficient glycoprotein syndrome, type II, formerly; CDGS2, formerly" RELATED [GARD:0009828] synonym: "CDG 2A" RELATED [GARD:0009828] synonym: "CDG IIa" RELATED [OMIM:212066] synonym: "CDG syndrome type IIa" EXACT [Orphanet:79329] synonym: "CDG-IIa" EXACT [Orphanet:79329] synonym: "CDG2A" EXACT ABBREVIATION [MONDO:Lexical, OMIM:212066, Orphanet:79329] synonym: "CDGS2" RELATED ABBREVIATION [GARD:0009828] synonym: "congenital disorder of glycosylation type 2a" EXACT [Orphanet:79329] synonym: "congenital disorder of glycosylation type IIa" EXACT [Orphanet:79329] synonym: "congenital disorder of glycosylation, type IIa" RELATED [MONDO:Lexical, OMIM:212066] synonym: "intellectual disability, Growth retardation, prominent columella, and open mouth" RELATED [OMIM:212066] synonym: "mental retardation, Growth retardation, prominent columella, and open mouth" RELATED DEPRECATED [OMIM:212066] synonym: "MGAT2-CDG" EXACT ABBREVIATION [Orphanet:79329] synonym: "MGAT2-CDG (CDG-IIa)" RELATED [GARD:0009828] synonym: "N-acetylglucosaminyltransferase 2 deficiency" EXACT [Orphanet:79329] xref: DOID:0070253 {source="MONDO:equivalentTo"} xref: MESH:C535752 {source="MONDO:equivalentTo"} xref: OMIM:212066 {source="Orphanet:79329", source="MONDO:equivalentTo", source="Orphanet:79329/e"} xref: Orphanet:79329 {source="OMIM:212066", source="MONDO:equivalentTo"} xref: SCTID:724142005 {source="MONDO:equivalentTo"} xref: UMLS:C2931008 {source="OMIM:212066", source="Orphanet:79329", source="MONDO:equivalentTo"} is_a: EFO:0003777 {source="MONDO:0018290-obsoleted"} ! heart disease is_a: EFO:0005546 {source="DC-OMIM:212066", source="OMIM:212066"} ! congenital disorder of glycosylation type II is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0017740 {source="Orphanet:79329"} ! disorder of protein N-glycosylation property_value: exactMatch DOID:0070253 property_value: exactMatch http://identifiers.org/mesh/C535752 property_value: exactMatch http://identifiers.org/snomedct/724142005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931008 property_value: exactMatch https://omim.org/entry/212066 property_value: exactMatch Orphanet:79329 [Term] id: MONDO:0008913 name: cardiac valvular defect, developmental synonym: "CARDIAC valvular defect, developmental" RELATED [OMIM:212093] synonym: "cardiac valvular defect, developmental" EXACT [OMIM:212093] synonym: "CVDD" RELATED ABBREVIATION [OMIM:212093] xref: DOID:0080633 {source="MONDO:equivalentTo"} xref: MESH:C565882 {source="MONDO:equivalentTo"} xref: OMIM:212093 {source="MONDO:equivalentTo"} xref: UMLS:C1859330 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:212093"} is_a: MONDO:0017131 {source="https://orcid.org/0000-0001-6330-7526"} ! hereditary cardiac anomaly is_a: MONDO:0031323 {source="OMIM:212093"} ! cardiac valvular defect property_value: exactMatch DOID:0080633 property_value: exactMatch http://identifiers.org/mesh/C565882 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859330 property_value: exactMatch https://omim.org/entry/212093 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6139 xsd:anyURI [Term] id: MONDO:0008915 name: dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome def: "A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH)." [Orphanet:2229] subset: ordo_malformation_syndrome {source="Orphanet:2229"} synonym: "cardiogenital syndrome" EXACT [Orphanet:2229] synonym: "cardiomyopathy with primary testicular failure" RELATED [OMIM:212112] synonym: "cardiomyopathy, congestive, with hypergonadotropic hypogonadism" RELATED [OMIM:212112] synonym: "cardiomyopathy, dilated, with hypergonadotropic hypogonadism" RELATED [OMIM:212112] synonym: "cardiomyopathy, dilated, with premature ovarian failure" RELATED [OMIM:212112] synonym: "dilated cardiomyopathy with hypergonadotropic hypogonadism" RELATED [GARD:0003373] synonym: "genital anomaly with cardiomyopathy" RELATED [OMIM:212112] synonym: "Malouf syndrome" EXACT [OMIM:212112, Orphanet:2229] synonym: "Najjar syndrome" EXACT [OMIM:212112, Orphanet:2229] xref: DOID:0111584 {source="MONDO:equivalentTo"} xref: NCIT:C174217 {source="MONDO:equivalentTo"} xref: OMIM:212112 {source="MONDO:equivalentTo", source="Orphanet:2229", source="Orphanet:2229/e"} xref: Orphanet:2229 {source="MONDO:equivalentTo", source="OMIM:212112"} xref: SCTID:719451006 {source="MONDO:equivalentTo"} xref: UMLS:C0796031 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:212112", source="Orphanet:2229", source="Orphanet:2229/e"} xref: UMLS:C0796083 {source="MONDO:equivalentTo", source="OMIM:212112", source="Orphanet:2229", source="Orphanet:2229/e"} is_a: EFO:0001379 {source="GARD:0003373"} ! endocrine system disease is_a: EFO:0003777 {source="GARD:0003373"} ! heart disease is_a: EFO:0009555 {source="GARD:0003373"} ! male reproductive system disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015906"} ! rare property_value: exactMatch DOID:0111584 property_value: exactMatch http://identifiers.org/snomedct/719451006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796031 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796083 property_value: exactMatch https://omim.org/entry/212112 property_value: exactMatch NCIT:C174217 property_value: exactMatch Orphanet:2229 property_value: excluded_subClassOf MONDO:0016337 {source="Orphanet:2229"} [Term] id: MONDO:0008917 name: heart defects-limb shortening syndrome def: "Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male sibs from Kuwaiti first-cousins. The clinical and radiological features of these patients were reported as a distinct cardioskeletal syndrome." [Orphanet:1354] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1354"} synonym: "cardioskeletal syndrome kuwaiti type" RELATED [] synonym: "cardioskeletal syndrome, KUWAITI type" RELATED [OMIM:212135] synonym: "heart defect and limb shortening syndrome" EXACT [] synonym: "heart defects and limb shortening" RELATED [GARD:0002613] xref: MESH:C535850 {source="Orphanet:1354", source="MONDO:equivalentTo", source="Orphanet:1354/e"} xref: OMIM:212135 {source="Orphanet:1354", source="GARD:0002613", source="MONDO:equivalentTo", source="Orphanet:1354/e"} xref: Orphanet:1354 {source="MONDO:equivalentTo", source="OMIM:212135"} xref: SCTID:721009008 {source="MONDO:equivalentTo"} xref: UMLS:C1859327 {source="Orphanet:1354", source="GARD:0002613", source="MONDO:equivalentTo", source="OMIM:212135", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1354/e"} is_a: EFO:0005207 {source="MESH:C535850"} ! congenital heart disease is_a: EFO:1000017 {source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015161 {source="Orphanet:1354"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C535850 property_value: exactMatch http://identifiers.org/snomedct/721009008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859327 property_value: exactMatch https://omim.org/entry/212135 property_value: exactMatch Orphanet:1354 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2613/cardioskeletal-syndrome-kuwaiti-type xsd:anyURI {source="GARD:0002613"} [Term] id: MONDO:0008918 name: carnitine-acylcarnitine translocase deficiency def: "Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy." [Orphanet:159] subset: gard_rare {source="GARD:0001123"} subset: ordo_disease {source="Orphanet:159"} synonym: "CACT deficiency" EXACT [Orphanet:159] synonym: "Cact deficiency" RELATED [OMIM:212138] synonym: "CACTD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:212138] synonym: "CARNITINE-acylcarnitine translocase deficiency" RELATED [OMIM:212138] synonym: "carnitine-acylcarnitine translocase deficiency" EXACT [MONDO:Lexical, OMIM:212138] xref: DOID:0111585 {source="MONDO:equivalentTo"} xref: MESH:C562812 {source="MONDO:equivalentTo"} xref: NCIT:C133086 {source="MONDO:equivalentTo"} xref: OMIM:212138 {source="Orphanet:159", source="MONDO:equivalentTo", source="Orphanet:159/e"} xref: Orphanet:159 {source="MONDO:equivalentTo", source="OMIM:212138"} xref: SCTID:238003000 {source="MONDO:equivalentTo"} xref: UMLS:C0342791 {source="Orphanet:159", source="NCIT:C133086", source="MONDO:equivalentTo", source="Orphanet:159/e", source="MONDO:ncbi_mim2gene_medline", source="OMIM:212138"} is_a: MONDO:0017713 ! disorder of fatty acid oxidation and ketogenesis is_a: MONDO:0017716 {source="Orphanet:159"} ! disorder of carnitine cycle and carnitine transport property_value: exactMatch DOID:0111585 property_value: exactMatch http://identifiers.org/mesh/C562812 property_value: exactMatch http://identifiers.org/snomedct/238003000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342791 property_value: exactMatch https://omim.org/entry/212138 property_value: exactMatch NCIT:C133086 property_value: exactMatch Orphanet:159 property_value: excluded_subClassOf MONDO:0005045 property_value: excluded_subClassOf MONDO:0005267 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1123/carnitine-acylcarnitine-translocase-deficiency xsd:anyURI {source="GARD:0001123"} [Term] id: MONDO:0008919 name: systemic primary carnitine deficiency disease def: "Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." [Orphanet:158] subset: ordo_disease {source="Orphanet:158"} synonym: "Carnitine deficiency" EXACT [NCIT:C98864] synonym: "Carnitine deficiency, primary" RELATED [OMIM:212140] synonym: "CARNITINE deficiency, systemic primary" RELATED [MONDO:Lexical, OMIM:212140] synonym: "Carnitine deficiency, systemic, due to defect in renal reabsorption of Carnitine" RELATED [OMIM:212140] synonym: "Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine" RELATED [GARD:0005104] synonym: "Carnitine plasma-membrane transporter deficiency" RELATED [GARD:0005104] synonym: "Carnitine transporter defect" EXACT [Orphanet:158] synonym: "carnitine transporter deficiency" EXACT [DOID:14365] synonym: "Carnitine transporter, plasma-Membrane, deficiency of" RELATED [OMIM:212140] synonym: "Carnitine uptake defect" RELATED [OMIM:212140] synonym: "carnitine uptake defect" EXACT [DOID:14365] synonym: "Carnitine uptake deficiency" EXACT [Orphanet:158] synonym: "CDSP" EXACT ABBREVIATION [MONDO:Lexical, OMIM:212140, Orphanet:158] synonym: "cud" EXACT [Orphanet:158] synonym: "deficiency of plasma-membrane carnitine transporter" EXACT [DOID:14365, Orphanet:158] synonym: "primary carnitine deficiency" EXACT [DOID:14365, ICD9CM:277.81] synonym: "renal carnitine transport defect" EXACT [DOID:14365] synonym: "SPCD" EXACT ABBREVIATION [Orphanet:158] synonym: "systemic Carnitine deficiency" RELATED [OMIM:212140] synonym: "systemic primary carnitine deficiency" RELATED [Orphanet:158] synonym: "systemic primary carnitine deficiency disease" EXACT [] xref: DOID:14365 {source="MONDO:equivalentTo"} xref: ICD9:277.81 {source="DOID:14365"} xref: ICD9:277.82 {source="DOID:14365"} xref: MESH:C536778 {source="MONDO:equivalentTo", source="DOID:14365"} xref: NCIT:C98864 {source="MONDO:equivalentTo", source="DOID:14365"} xref: OMIM:212140 {source="Orphanet:158", source="MONDO:equivalentTo", source="Orphanet:158/e", source="DOID:14365"} xref: Orphanet:158 {source="OMIM:212140", source="MONDO:equivalentTo"} xref: SCTID:21764004 {source="MONDO:equivalentTo", source="DOID:14365"} xref: UMLS:C0342788 {source="OMIM:212140", source="Orphanet:158", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:14365"} is_a: MONDO:0017713 {source="https://orcid.org/0000-0001-5208-3432"} ! disorder of fatty acid oxidation and ketogenesis is_a: MONDO:0017716 {source="Orphanet:158"} ! disorder of carnitine cycle and carnitine transport property_value: exactMatch DOID:14365 property_value: exactMatch http://identifiers.org/mesh/C536778 property_value: exactMatch http://identifiers.org/snomedct/21764004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342788 property_value: exactMatch https://omim.org/entry/212140 property_value: exactMatch NCIT:C98864 property_value: exactMatch Orphanet:158 [Term] id: MONDO:0008921 name: carnosinemia def: "Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency." [Orphanet:1361] subset: ordo_disease {source="Orphanet:1361"} synonym: "Carnosinase deficiency" EXACT [OMIM:212200, Orphanet:1361] synonym: "carnosinemia" EXACT [OMIM:212200] synonym: "homocarnosinosis" RELATED AMBIGUOUS [Orphanet:1361] xref: NCIT:C125661 {source="MONDO:equivalentTo"} xref: OMIM:212200 {source="Orphanet:1361/e", source="MONDO:equivalentTo", source="Orphanet:1361"} xref: Orphanet:1361 {source="MONDO:equivalentTo", source="OMIM:212200"} xref: SCTID:410052008 {source="MONDO:equivalentTo"} xref: UMLS:C3495555 {source="NCIT:C125661", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:212200", source="Orphanet:1361"} is_a: MONDO:0009351 ! homocarnosinosis property_value: exactMatch http://identifiers.org/snomedct/410052008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3495555 property_value: exactMatch https://omim.org/entry/212200 property_value: exactMatch NCIT:C125661 property_value: exactMatch Orphanet:1361 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0008922 name: Sengers syndrome def: "Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." [Orphanet:1369] subset: gard_rare {source="GARD:0001142"} subset: ordo_disease {source="Orphanet:1369"} synonym: "cardiomyopathic mitochondrial DNA depletion syndrome 10" RELATED [GARD:0001142] synonym: "cardiomyopathy and cataract" RELATED [OMIM:212350] synonym: "cataract and cardiomyopathy" RELATED [GARD:0001142] synonym: "congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome" RELATED [Orphanet:1369] synonym: "mitochondrial DNA depletion syndrome 10" EXACT [DOID:0080132] synonym: "mitochondrial DNA depletion syndrome 10 (Cardiomyopathic type)" RELATED [OMIM:212350] synonym: "Sengers syndrome" EXACT [OMIM:212350, Orphanet:1369] xref: DOID:0080132 {source="MONDO:equivalentTo"} xref: MESH:C538280 {source="MONDO:equivalentTo", source="Orphanet:1369", source="Orphanet:1369/e"} xref: OMIM:212350 {source="DOID:0080132", source="MONDO:equivalentTo", source="Orphanet:1369", source="Orphanet:1369/e"} xref: Orphanet:1369 {source="OMIM:212350", source="MONDO:equivalentTo"} xref: SCTID:717812000 {source="MONDO:equivalentTo"} xref: UMLS:C1859317 {source="OMIM:212350", source="MONDO:equivalentTo", source="Orphanet:1369", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1369/e"} is_a: EFO:0003777 ! heart disease is_a: MONDO:0016801 {source="Orphanet:1369"} ! mitochondrial substrate carrier disorder is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis is_a: MONDO:0018158 {source="OMIM:212350"} ! mitochondrial DNA depletion syndrome property_value: exactMatch DOID:0080132 property_value: exactMatch http://identifiers.org/mesh/C538280 property_value: exactMatch http://identifiers.org/snomedct/717812000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859317 property_value: exactMatch https://omim.org/entry/212350 property_value: exactMatch Orphanet:1369 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1142/sengers-syndrome xsd:anyURI {source="GARD:0001142"} [Term] id: MONDO:0008923 name: autosomal recessive palmoplantar keratoderma and congenital alopecia def: "Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum." [Orphanet:1366] subset: gard_rare {source="GARD:0001139"} subset: ordo_disease {source="Orphanet:1366"} synonym: "autosomal recessive palmoplantar hyperkeratosis and congenital alopecia" EXACT [Orphanet:1366] synonym: "cass" RELATED [GARD:0001139] synonym: "cataract, alopecia, sclerodactyly" RELATED [GARD:0001139] synonym: "cataract, alopecia, sclerodactyly syndrome" RELATED [GARD:0001139] synonym: "cataract-alopecia-sclerodactyly syndrome" EXACT [OMIM:212360, Orphanet:1366] synonym: "palmoplantar keratoderma and congenital alopecia 2" RELATED [MONDO:Lexical, OMIM:212360] synonym: "palmoplantar keratoderma and congenital alopecia type 2" EXACT [MONDORULE:1, OMIM:212360] synonym: "palmoplantar keratoderma and congenital alopecia, Wallis type" EXACT [Orphanet:1366] synonym: "PPK-CA, Wallis type" EXACT [Orphanet:1366] synonym: "Ppkca, Wallis type" RELATED [OMIM:212360] synonym: "PPKCA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:212360] xref: DOID:0111245 {source="MONDO:equivalentTo"} xref: MESH:C535336 {source="Orphanet:1366", source="MONDO:equivalentTo", source="Orphanet:1366/e"} xref: OMIM:212360 {source="Orphanet:1366", source="MONDO:equivalentTo", source="Orphanet:1366/e"} xref: Orphanet:1366 {source="OMIM:212360", source="MONDO:equivalentTo"} xref: UMLS:C1859316 {source="OMIM:212360", source="Orphanet:1366", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1366/e"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0017666 {source="MONDO:0017671-obsoleted"} ! diffuse palmoplantar keratoderma is_a: MONDO:0019287 {source="Orphanet:1366"} ! ectodermal dysplasia syndrome property_value: exactMatch DOID:0111245 property_value: exactMatch http://identifiers.org/mesh/C535336 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859316 property_value: exactMatch https://omim.org/entry/212360 property_value: exactMatch Orphanet:1366 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1139/autosomal-recessive-palmoplantar-keratoderma-and-congenital-alopecia xsd:anyURI {source="GARD:0001139"} [Term] id: MONDO:0008924 name: congenital cataract-ichthyosis syndrome def: "Congenital cataract-ichthyosis syndrome is characterized by congenital cataract associated with ichthyosis. It has been described in less than ten patients from two unrelated families. Transmission is autosomal recessive." [Orphanet:1376] subset: ordo_disease {source="Orphanet:1376"} synonym: "cataract and congenital ichthyosis" RELATED [OMIM:212400] synonym: "Syndermotic cataract and congenital ichthyosis" RELATED [GARD:0001145] xref: MESH:C538281 {source="Orphanet:1376", source="MONDO:equivalentTo", source="Orphanet:1376/e"} xref: OMIM:212400 {source="Orphanet:1376", source="MONDO:equivalentTo", source="Orphanet:1376/e"} xref: Orphanet:1376 {source="MONDO:equivalentObsolete", source="OMIM:212400"} xref: UMLS:C1859315 {source="Orphanet:1376", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1376/e", source="OMIM:212400"} is_a: MONDO:0017270 ! autosomal ichthyosis syndrome property_value: exactMatch http://identifiers.org/mesh/C538281 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859315 property_value: exactMatch https://omim.org/entry/212400 [Term] id: MONDO:0008925 name: cataract 46 juvenile-onset def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LEMD2 gene." [MONDO:patterns/disease_series_by_gene] comment: Not in the OMIM series. {source="OMIM:212500"} subset: gard_rare synonym: "cataract 46, juvenile-onset" RELATED [OMIM:212500] synonym: "cataract Hutterite type" RELATED [GARD:0001150] synonym: "cataract, congenital or juvenile" RELATED [OMIM:212500] synonym: "cataract, juvenile, Hutterite type" RELATED [OMIM:212500] synonym: "CTRCT46" EXACT ABBREVIATION [DOID:0110243] synonym: "early-onset non-syndromic cataract caused by mutation in LEMD2" EXACT [MONDO:design_pattern] synonym: "juvenilae cataract Hutterite type" EXACT [DOID:0110243] synonym: "LEMD2 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110243 {source="MONDO:equivalentTo"} xref: MESH:C538286 {source="MONDO:equivalentTo"} xref: OMIM:212500 {source="MONDO:equivalentTo", source="DOID:0110243", source="GARD:0001150"} xref: Orphanet:98987 {source="MONDO:equivalentObsolete", source="OMIM:212500"} is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract property_value: exactMatch DOID:0110243 property_value: exactMatch http://identifiers.org/mesh/C538286 property_value: exactMatch https://omim.org/entry/212500 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1150/cataract-hutterite-type xsd:anyURI {source="GARD:0001150"} [Term] id: MONDO:0008926 name: COFS syndrome def: "Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." [Orphanet:1466] subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:1466"} subset: prototype_pattern synonym: "cerebro-oculo-facio-skeletal syndrome" EXACT [NCIT:C3817] synonym: "cerebrooculofacioskeletal syndrome" EXACT [MONDO:0000010, Orphanet:1466] synonym: "COFS" EXACT ABBREVIATION [] synonym: "Pena-Shokeir syndrome type 2" EXACT [Orphanet:1466] xref: DOID:0080910 {source="MONDO:equivalentTo"} xref: NCIT:C3817 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: OMIMPS:214150 {source="MONDO:equivalentTo"} xref: Orphanet:1466 {source="MONDO:equivalentTo"} xref: UMLS:C0220722 {source="NCIT:C3817", source="Orphanet:1466", source="MONDO:equivalentTo", source="Orphanet:1466/e"} is_a: EFO:0008499 ! DNA repair deficiency is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0016073 {source="Orphanet:1466"} ! syndromic microphthalmia property_value: exactMatch DOID:0080910 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220722 property_value: exactMatch https://omim.org/phenotypicSeries/PS214150 property_value: exactMatch NCIT:C3817 property_value: exactMatch Orphanet:1466 property_value: excluded_subClassOf MONDO:0016006 {source="Orphanet:1466"} [Term] id: MONDO:0008928 name: cataract-ataxia-deafness syndrome def: "Cataract-ataxia-deafness syndrome is characterized by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive." [Orphanet:1368] subset: ordo_disease {source="Orphanet:1368"} synonym: "Begeer syndrome" RELATED [GARD:0001141] synonym: "cataract ataxia deafness" RELATED [GARD:0001141] synonym: "cataract ataxia deafness syndrome" RELATED [GARD:0001141] synonym: "cataract-ataxia-deafness-retardation syndrome" RELATED [OMIM:212710] synonym: "polyneuropathy, cataract, deafness syndrome" RELATED [GARD:0001141] synonym: "polyneuropathy-cataract-deafness syndrome" RELATED [OMIM:212710] xref: MESH:C538283 {source="MONDO:equivalentTo", source="Orphanet:1368", source="Orphanet:1368/e"} xref: OMIM:212710 {source="MONDO:equivalentTo", source="Orphanet:1368", source="Orphanet:1368/e"} xref: Orphanet:1368 {source="MONDO:equivalentTo", source="OMIM:212710"} xref: UMLS:C0796123 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1368", source="OMIM:212710", source="Orphanet:1368/e"} is_a: EFO:0009671 {source="Orphanet:1368"} ! hereditary ataxia property_value: exactMatch http://identifiers.org/mesh/C538283 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796123 property_value: exactMatch https://omim.org/entry/212710 property_value: exactMatch Orphanet:1368 [Term] id: MONDO:0008931 name: Cenani-Lenz syndactyly syndrome def: "Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs." [Orphanet:3258] subset: ordo_malformation_syndrome {source="Orphanet:3258"} synonym: "Cenani syndactylism" RELATED [OMIM:212780] synonym: "Cenani syndactyly" EXACT [Orphanet:3258] synonym: "Cenani-Lenz syndactyly" EXACT [OMIM:212780, Orphanet:3258] synonym: "Cenani-Lenz syndactyly syndrome" EXACT [MONDO:Lexical, OMIM:212780] synonym: "Cenani-Lenz syndrome" RELATED [Orphanet:3258] synonym: "Cenani-Lenz type syndactyly" RELATED [GARD:0005084] synonym: "CLSS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:212780] synonym: "syndactyly Cenani Lenz type" RELATED [GARD:0005084] synonym: "syndactyly type 7" EXACT [DOID:0090015, Orphanet:3258] synonym: "syndactyly, type 7" RELATED [OMIM:212780] xref: DOID:0090015 {source="MONDO:equivalentTo"} xref: MESH:C538150 {source="MONDO:equivalentTo"} xref: OMIM:212780 {source="Orphanet:3258", source="MONDO:equivalentTo", source="DOID:0090015", source="Orphanet:3258/e"} xref: Orphanet:3258 {source="OMIM:212780", source="MONDO:equivalentTo", source="DOID:0090015"} xref: SCTID:720633009 {source="MONDO:equivalentTo"} xref: UMLS:C1859309 {source="OMIM:212780", source="Orphanet:3258", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3258/e"} is_a: MONDO:0019054 {source="Orphanet:3258"} ! congenital limb malformation is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism property_value: exactMatch DOID:0090015 property_value: exactMatch http://identifiers.org/mesh/C538150 property_value: exactMatch http://identifiers.org/snomedct/720633009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859309 property_value: exactMatch https://omim.org/entry/212780 property_value: exactMatch Orphanet:3258 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0008934 name: cerebellar ataxia-ectodermal dysplasia syndrome def: "Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy." [Orphanet:1174] subset: ordo_malformation_syndrome {source="Orphanet:1174"} synonym: "cerebellar ataxia - ectodermal dysplasia" RELATED [GARD:0001189] synonym: "cerebellar ataxia and ectodermal dysplasia" RELATED [OMIM:212835] synonym: "cerebellar ataxia ectodermal dysplasia" RELATED [GARD:0001189] synonym: "ectodermal dysplasia and cerebellar ataxia" RELATED [GARD:0001189] xref: MESH:C535350 {source="Orphanet:1174/e", source="MONDO:equivalentTo", source="Orphanet:1174"} xref: OMIM:212835 {source="Orphanet:1174/e", source="MONDO:equivalentTo", source="Orphanet:1174"} xref: Orphanet:1174 {source="MONDO:equivalentTo", source="OMIM:212835"} xref: SCTID:715371006 {source="MONDO:equivalentTo"} xref: UMLS:C1859306 {source="Orphanet:1174/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1174", source="OMIM:212835"} is_a: MONDO:0019287 {source="MESH:C535350", source="Orphanet:1174"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C535350 property_value: exactMatch http://identifiers.org/snomedct/715371006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859306 property_value: exactMatch https://omim.org/entry/212835 property_value: exactMatch Orphanet:1174 [Term] id: MONDO:0008935 name: cerebellar ataxia-hypogonadism syndrome def: "Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome." [Orphanet:1173] subset: ordo_disease {source="Orphanet:1173"} synonym: "cerebellar ataxia - hypogonadism" RELATED [GARD:0003314] synonym: "cerebellar ataxia and hypogonadotropic hypogonadism" RELATED [OMIM:212840] synonym: "GDHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:212840] synonym: "Gordon Holmes syndrome" RELATED [MONDO:Lexical, OMIM:212840] synonym: "Gordon-Holmes syndrome" EXACT [Orphanet:1173] synonym: "LHRH deficiency and ataxia" RELATED [OMIM:212840] synonym: "luteinizing hormone releasing hormone, deficiency of with ataxia" RELATED [GARD:0003314] synonym: "luteinizing hormone-releasing hormone deficiency with ataxia" EXACT [Orphanet:1173] synonym: "luteinizing hormone-releasing hormone, deficiency of, with ataxia" RELATED [OMIM:212840] xref: DOID:0111587 {source="MONDO:equivalentTo"} xref: MESH:C565870 {source="MONDO:equivalentTo"} xref: OMIM:212840 {source="Orphanet:1173/e", source="MONDO:equivalentTo", source="Orphanet:1173"} xref: Orphanet:1173 {source="MONDO:equivalentTo", source="OMIM:212840"} xref: UMLS:C1859305 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:212840", source="Orphanet:1173"} is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism is_a: MONDO:0024237 ! inherited neurodegenerative disorder property_value: exactMatch DOID:0111587 property_value: exactMatch http://identifiers.org/mesh/C565870 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859305 property_value: exactMatch https://omim.org/entry/212840 property_value: exactMatch Orphanet:1173 property_value: excluded_subClassOf MONDO:0100309 {source="Orphanet:1173"} [Term] id: MONDO:0008938 name: early-onset cerebellar ataxia with retained tendon reflexes def: "Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." [Orphanet:1177] subset: ordo_disease {source="Orphanet:1177"} synonym: "ataxia, harding type" RELATED [GARD:0002600] synonym: "cerebellar ataxia early onset with retained tendon reflex" RELATED [GARD:0002600] synonym: "cerebellar ataxia, early-onset, with retained tendon reflexes" RELATED [MONDO:Lexical, OMIM:212895] synonym: "EOCA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:212895, Orphanet:1177] synonym: "EOCARR" EXACT ABBREVIATION [Orphanet:1177] synonym: "Harding ataxia" EXACT [Orphanet:1177] xref: ICD9:334.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535633 {source="Orphanet:1177", source="MONDO:equivalentTo", source="Orphanet:1177/e"} xref: OMIM:212895 {source="Orphanet:1177", source="MONDO:equivalentTo", source="Orphanet:1177/e"} xref: Orphanet:1177 {source="MONDO:equivalentTo", source="OMIM:212895"} xref: SCTID:230228004 {source="MONDO:equivalentTo"} xref: UMLS:C0393520 {source="Orphanet:1177", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:212895", source="Orphanet:1177/e"} is_a: MONDO:0020046 {source="Orphanet:1177"} ! autosomal recessive degenerative and progressive cerebellar ataxia property_value: exactMatch http://identifiers.org/mesh/C535633 property_value: exactMatch http://identifiers.org/snomedct/230228004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393520 property_value: exactMatch https://omim.org/entry/212895 property_value: exactMatch Orphanet:1177 [Term] id: MONDO:0008939 name: isolated cerebellar hypoplasia/agenesis def: "Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures." [NCIT:C98890] subset: ordo_morphological_anomaly {source="Orphanet:1398"} synonym: "cerebellar hypoplasia" RELATED [OMIM:213000] synonym: "cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay" EXACT [OMIM:213000, OMIM:genemap2] synonym: "Chiari 4 malformation" EXACT [Orphanet:1398] synonym: "Chiari IV malformation" EXACT [Orphanet:1398] synonym: "congenital cerebellar Hypoplasia" EXACT [NCIT:C98890] synonym: "isolated cerebellar agenesis" RELATED [Orphanet:1398] synonym: "near total absence of cerebellum" EXACT [Orphanet:1398] synonym: "subtotal absence of cerebellum" EXACT [Orphanet:1398] xref: DOID:0070338 {source="MONDO:equivalentTo"} xref: MedDRA:10008033 {source="Orphanet:1398", source="Orphanet:1398/e"} xref: MESH:C562568 {source="MONDO:equivalentTo"} xref: NCIT:C98890 {source="MONDO:equivalentTo"} xref: OMIM:213000 {source="MONDO:equivalentTo"} xref: Orphanet:1398 {source="MONDO:equivalentTo"} xref: Orphanet:2246 {source="OMIM:213000", source="MONDO:relatedTo"} xref: SCTID:16026008 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 {source="NCIT:C98890"} ! congenital nervous system disorder is_a: MONDO:0017114 {source="Orphanet:1398"} ! global cerebellar malformation property_value: closeMatch http://identifiers.org/meddra/10008033 property_value: exactMatch DOID:0070338 property_value: exactMatch http://identifiers.org/mesh/C562568 property_value: exactMatch http://identifiers.org/snomedct/16026008 property_value: exactMatch https://omim.org/entry/213000 property_value: exactMatch NCIT:C98890 property_value: exactMatch Orphanet:1398 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0008940 name: obsolete endosteal sclerosis-cerebellar hypoplasia syndrome property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4516 xsd:anyURI is_obsolete: true replaced_by: MONDO:0013722 [Term] id: MONDO:0008941 name: hepatic fibrosis-renal cysts-intellectual disability syndrome def: "A rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987." [https://orcid.org/0000-0001-5208-3432, Orphanet:2031] subset: ordo_malformation_syndrome {source="Orphanet:2031"} synonym: "cerebellar vermis aplasia with associated features suggesting SMITH-Lemli-Opitz syndrome and Meckel syndrome" RELATED [OMIM:213010] synonym: "Thompson Baraitser syndrome" EXACT [GARD:0005177] synonym: "Thompson-Baraitser syndrome" EXACT [Orphanet:2031] xref: MESH:C565867 {source="MONDO:equivalentTo"} xref: OMIM:213010 {source="Orphanet:2031/e", source="MONDO:equivalentTo", source="Orphanet:2031"} xref: Orphanet:2031 {source="OMIM:213010", source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015114", source="MONDO:0015983"} ! rare property_value: exactMatch http://identifiers.org/mesh/C565867 property_value: exactMatch https://omim.org/entry/213010 property_value: exactMatch Orphanet:2031 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:2031"} property_value: excluded_subClassOf MONDO:0015508 {source="MONDO:Redundant", source="Orphanet:2031"} property_value: excluded_subClassOf MONDO:0019741 {source="Orphanet:2031"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6000 xsd:anyURI [Term] id: MONDO:0008943 name: autosomal recessive spinocerebellar ataxia 2 def: "The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training." [Orphanet:1170] subset: ordo_disease {source="Orphanet:1170"} synonym: "autosomal recessive cerebelloparenchymal disorder type 3" RELATED [Orphanet:1170] synonym: "autosomal recessive congenital cerebellar ataxia caused by mutation in PMPCA" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spinocerebellar ataxia type 2" EXACT [DOID:0080061, MONDORULE:1, Orphanet:1170] synonym: "cerebellar granular cell hypoplasia and intellectual disability, congenital" RELATED [OMIM:213200] synonym: "cerebellar granular cell hypoplasia and mental retardation, congenital" RELATED DEPRECATED [OMIM:213200] synonym: "cerebellar hypoplasia, nonprogressive Norman type" RELATED [OMIM:213200] synonym: "cerebelloparenchymal disorder 3" RELATED [OMIM:213200] synonym: "CPD 3" RELATED [OMIM:213200] synonym: "CPD3" RELATED ABBREVIATION [GARD:0001199] synonym: "CPDIII" RELATED ABBREVIATION [GARD:0001199] synonym: "PMPCA autosomal recessive congenital cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SCAR2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:213200, Orphanet:1170] synonym: "spinocerebellar ataxia, autosomal recessive 2" RELATED [MONDO:Lexical, OMIM:213200] xref: DOID:0080061 {source="MONDO:equivalentTo"} xref: MESH:C565865 {source="MONDO:equivalentTo"} xref: OMIM:213200 {source="Orphanet:1170/e", source="MONDO:equivalentTo", source="Orphanet:1170", source="DOID:0080061"} xref: Orphanet:1170 {source="OMIM:213200", source="MONDO:equivalentTo"} xref: SCTID:715369006 {source="MONDO:equivalentTo"} xref: UMLS:C1859298 {source="OMIM:213200", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1170"} is_a: MONDO:0020043 {source="MONDO:Redundant", source="Orphanet:1170"} ! autosomal recessive congenital cerebellar ataxia property_value: exactMatch DOID:0080061 property_value: exactMatch http://identifiers.org/mesh/C565865 property_value: exactMatch http://identifiers.org/snomedct/715369006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859298 property_value: exactMatch https://omim.org/entry/213200 property_value: exactMatch Orphanet:1170 [Term] id: MONDO:0008947 name: bilateral striopallidodentate calcinosis def: "A basal ganglia disease characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration." [Orphanet:1980] comment: Encompasses a range of disorders with different etiology, see https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-016-0693-1 subset: ordo_disease {source="Orphanet:1980"} synonym: "basal ganglia calcification" EXACT [MONDO:0000720] synonym: "basal ganglia calcification, idiopathic" RELATED [OMIMPS:213600] synonym: "basal ganglia degeneration with calcification" EXACT [] synonym: "BSPDC" EXACT ABBREVIATION [Orphanet:1980] synonym: "cerebrovascular ferrocalcinosis" EXACT [Orphanet:1980] synonym: "Fahr disease" NARROW DEPRECATED [DOID:0060230] synonym: "idiopathic basal ganglia calcification" NARROW [Orphanet:1980] synonym: "PFBC" EXACT ABBREVIATION [Orphanet:1980] synonym: "primary familial brain calcification" EXACT [Orphanet:1980] xref: DOID:0060230 {source="MONDO:equivalentTo"} xref: HP:0002135 {source="DOID:0060230", source="MONDO:otherHierarchy"} xref: ICD9:333.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:348.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10059626 {source="Orphanet:1980", source="Orphanet:1980/e"} xref: MESH:C536275 {source="DOID:0060230", source="MONDO:equivalentTo"} xref: OMIMPS:213600 {source="MONDO:equivalentTo"} xref: Orphanet:1980 {source="MONDO:equivalentTo", source="OMIM:213600"} xref: SCTID:110997000 {source="DOID:0060230", source="MONDO:equivalentTo"} xref: SCTID:230311004 {source="MONDO:equivalentTo"} xref: UMLS:C0393589 {source="MONDO:equivalentTo"} xref: UMLS:CN852731 {source="MONDO:equivalentTo"} is_a: EFO:0009533 {source="DOID:0060230", source="MESH:C536275"} ! basal ganglia disease is_a: MONDO:0015547 {source="Orphanet:1980"} ! hereditary dementia property_value: closeMatch http://identifiers.org/meddra/10059626 property_value: exactMatch DOID:0060230 property_value: exactMatch http://identifiers.org/mesh/C536275 property_value: exactMatch http://identifiers.org/snomedct/110997000 property_value: exactMatch http://identifiers.org/snomedct/230311004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393589 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN852731 property_value: exactMatch https://omim.org/phenotypicSeries/PS213600 property_value: exactMatch Orphanet:1980 [Term] id: MONDO:0008948 name: cerebrotendinous xanthomatosis def: "Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." [Orphanet:909] subset: gard_rare {source="GARD:0005622"} subset: ordo_disease {source="Orphanet:909"} synonym: "cerebral cholesterinosis" RELATED [OMIM:213700] synonym: "cerebrotendinous xanthomatosis" EXACT [MONDO:Lexical, OMIM:213700] synonym: "cholestanol storage disease" EXACT [DOID:4810] synonym: "CTx" EXACT [MONDO:Lexical, OMIM:213700, Orphanet:909] synonym: "sterol 27-hydroxylase deficiency" EXACT [Orphanet:909] xref: DOID:4810 {source="MONDO:equivalentTo"} xref: MESH:D019294 {source="Orphanet:909/e", source="MONDO:equivalentTo", source="DOID:4810", source="Orphanet:909"} xref: NCIT:C84628 {source="MONDO:equivalentTo", source="DOID:4810"} xref: OMIM:213700 {source="Orphanet:909/e", source="MONDO:equivalentTo", source="DOID:4810", source="Orphanet:909"} xref: Orphanet:909 {source="MONDO:equivalentTo", source="OMIM:213700"} xref: SCTID:63246000 {source="MONDO:equivalentTo", source="DOID:4810"} xref: UMLS:C0238052 {source="Orphanet:909/e", source="MONDO:equivalentTo", source="DOID:4810", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C84628", source="OMIM:213700", source="Orphanet:909"} is_a: MONDO:0002615 {source="DOID:4810"} ! xanthomatosis is_a: MONDO:0004884 ! eye degenerative disorder is_a: MONDO:0015905 {source="MONDO:Redundant", source="Orphanet:909"} ! syndromic dyslipidemia is_a: MONDO:0019046 {source="Orphanet:909"} ! leukodystrophy is_a: MONDO:0019218 ! inborn disorder of bile acid synthesis is_a: MONDO:0019296 {source="Orphanet:909"} ! subcutaneous tissue disorder is_a: MONDO:0020044 {source="Orphanet:909"} ! autosomal recessive metabolic cerebellar ataxia is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy is_a: MONDO:0020143 {source="Orphanet:909"} ! cerebral lipidosis with dementia is_a: MONDO:0022687 ! cerebellar degeneration is_a: MONDO:0045016 ! cholesterol catabolic process disease property_value: exactMatch DOID:4810 property_value: exactMatch http://identifiers.org/mesh/D019294 property_value: exactMatch http://identifiers.org/snomedct/63246000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238052 property_value: exactMatch https://omim.org/entry/213700 property_value: exactMatch NCIT:C84628 property_value: exactMatch Orphanet:909 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5622/cerebrotendinous-xanthomatosis xsd:anyURI {source="GARD:0005622"} [Term] id: MONDO:0008952 name: obsolete cerebrofaciothoracic dysplasia property_value: IAO:0000231 IAO:0000229 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5619 xsd:anyURI is_obsolete: true replaced_by: MONDO:0031329 [Term] id: MONDO:0008953 name: peroxisome biogenesis disorder 1A (Zellweger) synonym: "Cerebrohepatorenal syndrome" RELATED [OMIM:214100] synonym: "PBD1A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:214100] synonym: "peroxisome biogenesis disorder 1A (Zellweger)" EXACT [MONDO:Lexical, OMIM:214100] synonym: "peroxisome biogenesis disorder, complementation group 1" RELATED [OMIM:214100] synonym: "peroxisome biogenesis disorder, complementation group E" RELATED [OMIM:214100] synonym: "Zs" RELATED [OMIM:214100] xref: DOID:0080476 {source="MONDO:equivalentTo"} xref: OMIM:214100 {source="MONDO:equivalentTo"} is_a: MONDO:0100259 {source="DC-OMIM:214100", source="MONDO:ORDO-Gene", source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX1 defect relationship: has_characteristic MONDO:0100356 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! classic presentation property_value: exactMatch DOID:0080476 property_value: exactMatch https://omim.org/entry/214100 property_value: excluded_subClassOf MONDO:0019234 {source="MONDO:0008953/inferred", source="MONDO:Redundant", source="OMIM:214100"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0008954 name: peroxisome biogenesis disorder 2A (Zellweger) synonym: "PBD2A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:214110] synonym: "peroxisome biogenesis disorder 2A (Zellweger)" EXACT [MONDO:Lexical, OMIM:214110] synonym: "peroxisome biogenesis disorder, complementation group 2" RELATED [OMIM:214110] xref: DOID:0080477 {source="MONDO:equivalentTo"} xref: OMIM:214110 {source="MONDO:equivalentTo"} xref: UMLS:C3550273 {source="OMIM:214110", source="MONDO:equivalentTo"} is_a: MONDO:0100262 {source="DC-OMIM:214110", source="MONDO:ORDO-Gene", source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX5 defect relationship: has_characteristic MONDO:0100356 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! classic presentation property_value: exactMatch DOID:0080477 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3550273 property_value: exactMatch https://omim.org/entry/214110 property_value: excluded_subClassOf MONDO:0019234 {source="MONDO:0008954/inferred", source="MONDO:Redundant", source="OMIM:214110"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0008959 name: CHAND syndrome synonym: "CHAND syndrome" EXACT [OMIM:214350] synonym: "CHANDS" EXACT ABBREVIATION [OMIM:214350] synonym: "curly hair-ankyloblepharon-nail dysplasia syndrome" RELATED [OMIM:214350] xref: MESH:C538074 {source="MONDO:equivalentTo"} xref: OMIM:214350 {source="MONDO:equivalentTo"} xref: Orphanet:1401 {source="OMIM:214350", source="MONDO:equivalentTo", source="MONDO:obsolete"} xref: SCTID:239037001 {source="MONDO:equivalentTo"} xref: UMLS:C0406733 {source="OMIM:214350", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:CN199447 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C538074 property_value: exactMatch http://identifiers.org/snomedct/239037001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406733 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199447 property_value: exactMatch https://omim.org/entry/214350 property_value: exactMatch Orphanet:1401 [Term] id: MONDO:0008960 name: Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome def: "A rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease." [Orphanet:90103] subset: ordo_malformation_syndrome {source="Orphanet:90103"} synonym: "Charcot-Marie-Tooth disease and deafness" RELATED [OMIM:214370] synonym: "Charcot-Marie-tooth disease-deafness-intellectual disability syndrome" NARROW [Orphanet:90103] synonym: "Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome" EXACT [Orphanet:90103] synonym: "deafness with Charcot-Marie-Tooth disease" RELATED [OMIM:214370] synonym: "hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers" EXACT [Orphanet:90103] synonym: "hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibres" EXACT OMO:0003005 [] synonym: "neuropathy, hereditary motor and sensory, with deafness, intellectual disability, and absent sensory large myelinated fibers" RELATED [OMIM:214370] synonym: "neuropathy, hereditary motor and sensory, with deafness, intellectual disability, and absent sensory large myelinated fibres" RELATED OMO:0003005 [] synonym: "neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers" RELATED DEPRECATED [OMIM:214370] synonym: "neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibres" RELATED OMO:0003005 [] xref: OMIM:214370 {source="MONDO:equivalentTo", source="Orphanet:90103", source="Orphanet:90103/e"} xref: Orphanet:90103 {source="MONDO:equivalentTo", source="OMIM:214370"} xref: SCTID:715666007 {source="MONDO:equivalentTo"} is_a: MONDO:0015361 {source="Orphanet:90103"} ! autosomal recessive hereditary demyelinating motor and sensory neuropathy property_value: exactMatch http://identifiers.org/snomedct/715666007 property_value: exactMatch https://omim.org/entry/214370 property_value: exactMatch Orphanet:90103 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:90103"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/551 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0008961 name: Charcot-Marie-Tooth disease type 4A def: "Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities." [Orphanet:99948] subset: gard_rare {source="GARD:0001252"} subset: ordo_disease {source="Orphanet:99948"} synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A" EXACT [DOID:0110185] synonym: "Charcot Marie Tooth disease type 4A" RELATED [GARD:0001252] synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in GDAP1" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive" RELATED [OMIM:214400] synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4A" RELATED [OMIM:214400] synonym: "Charcot-Marie-Tooth disease, type 4A" RELATED [MONDO:Lexical, OMIM:214400] synonym: "Charcot-Marie-Tooth neuropathy type 4A" EXACT [DOID:0110185] synonym: "Charcot-Marie-Tooth neuropathy, type 4A" RELATED [OMIM:214400] synonym: "CMT4A" EXACT ABBREVIATION [DOID:0110185, MONDO:Lexical, OMIM:214400, Orphanet:99948] synonym: "GDAP1 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110185 {source="MONDO:equivalentTo"} xref: MESH:C535419 {source="MONDO:equivalentTo", source="Orphanet:99948", source="Orphanet:99948/e"} xref: OMIM:214400 {source="MONDO:equivalentTo", source="DOID:0110185", source="Orphanet:99948", source="Orphanet:99948/e"} xref: Orphanet:99948 {source="MONDO:equivalentTo", source="OMIM:214400", source="DOID:0110185"} xref: SCTID:715796006 {source="MONDO:equivalentTo"} xref: UMLS:C1859198 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:214400", source="Orphanet:99948", source="Orphanet:99948/e"} is_a: MONDO:0012014 ! Charcot-Marie-Tooth disease recessive intermediate A is_a: MONDO:0018995 {source="DOID:0110185", source="MONDO:Redundant", source="Orphanet:99948"} ! Charcot-Marie-Tooth disease type 4 property_value: exactMatch DOID:0110185 property_value: exactMatch http://identifiers.org/mesh/C535419 property_value: exactMatch http://identifiers.org/snomedct/715796006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859198 property_value: exactMatch https://omim.org/entry/214400 property_value: exactMatch Orphanet:99948 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1252/charcot-marie-tooth-disease-type-4a xsd:anyURI {source="GARD:0001252"} [Term] id: MONDO:0008962 name: Griscelli syndrome type 1 def: "A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2." [DOID:0060832, PMID:12452176, PMID:9207796] subset: gard_rare {source="GARD:0002566"} subset: ordo_clinical_subtype {source="Orphanet:79476"} synonym: "Griscelli disease type 1" RELATED [Orphanet:79476] synonym: "Griscelli syndrome type 1" EXACT [] synonym: "Griscelli syndrome with neurologic impairment" RELATED [OMIM:214450] synonym: "Griscelli syndrome with neurological impairment" EXACT [DOID:0060832] synonym: "Griscelli syndrome, cutaneous and neurologic type" RELATED [OMIM:214450] synonym: "Griscelli syndrome, cutaneous and neurological type" EXACT [DOID:0060832] synonym: "Griscelli syndrome, type 1" RELATED [MONDO:Lexical, OMIM:214450] synonym: "Griscelli-PruniC)ras syndrome type 1" EXACT [Orphanet:79476] synonym: "Griscelli-Pruniéras syndrome type 1" EXACT [DOID:0060832] synonym: "GS1" EXACT ABBREVIATION [DOID:0060832, MONDO:Lexical, OMIM:214450] synonym: "hypopigmentation-neurologic impairment syndrome" EXACT [DOID:0060832, Orphanet:79476] synonym: "partial albinism and primary neurologic disease without hemophagocytic syndrome" RELATED [OMIM:214450] synonym: "pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts" RELATED [GARD:0002566] xref: DOID:0060832 {source="MONDO:equivalentTo"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="DOID:0060832", source="Orphanet:79476/attributed", source="Orphanet:79476/ntbt", source="Orphanet:79476"} xref: MESH:C537301 {source="Orphanet:79476/e", source="MONDO:equivalentTo", source="DOID:0060832", source="Orphanet:79476"} xref: OMIM:214450 {source="Orphanet:79476/e", source="MONDO:equivalentTo", source="DOID:0060832", source="Orphanet:79476"} xref: Orphanet:79476 {source="OMIM:214450", source="MONDO:equivalentTo", source="DOID:0060832"} xref: UMLS:C1859194 {source="OMIM:214450", source="Orphanet:79476/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:0060832", source="Orphanet:79476"} is_a: MONDO:0015144 {source="Orphanet:79476"} ! brain inflammatory disease is_a: MONDO:0018306 {source="DC-OMIM:214450", source="DOID:0060832", source="MONDO:Redundant", source="OMIM:214450", source="Orphanet:79476"} ! Griscelli syndrome property_value: exactMatch DOID:0060832 property_value: exactMatch http://identifiers.org/mesh/C537301 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859194 property_value: exactMatch https://omim.org/entry/214450 property_value: exactMatch Orphanet:79476 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2566/griscelli-syndrome-type-1 xsd:anyURI {source="GARD:0002566"} [Term] id: MONDO:0008963 name: Chediak-Higashi syndrome def: "ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described." [Orphanet:167] subset: gard_rare {source="GARD:0006035"} subset: ordo_disease {source="Orphanet:167"} synonym: "ChC)diak-Higashi disease" EXACT [Orphanet:167] synonym: "ChC)diak-Higashi-Steinbrink syndrome" EXACT [Orphanet:167] synonym: "Chediak - Steinbrinck anomaly" EXACT [DOID:2935] synonym: "Chediak Higashi syndrome" RELATED [GARD:0006035] synonym: "Chediak-Higashi syndrome" EXACT [MONDO:Lexical, OMIM:214500] synonym: "CHS" EXACT ABBREVIATION [DOID:2935, MONDO:Lexical, OMIM:214500] synonym: "Chédiak-Higashi disease" EXACT [Orphanet:167] synonym: "Chédiak-Higashi syndrome" RELATED [Orphanet:167] synonym: "Chédiak-Higashi-Steinbrink syndrome" EXACT [Orphanet:167] xref: DOID:2935 {source="MONDO:equivalentTo"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:167/ntbt", source="Orphanet:167/inclusion", source="Orphanet:167"} xref: ICD10CM:E70.330 {source="MONDO:equivalentTo", source="DOID:2935"} xref: MedDRA:10008415 {source="Orphanet:167/e", source="Orphanet:167"} xref: MESH:D002609 {source="Orphanet:167/e", source="MONDO:equivalentTo", source="DOID:2935", source="Orphanet:167"} xref: NCIT:C2941 {source="MONDO:equivalentTo", source="DOID:2935"} xref: OMIM:214500 {source="Orphanet:167/e", source="MONDO:equivalentTo", source="DOID:2935", source="Orphanet:167"} xref: Orphanet:167 {source="MONDO:equivalentTo", source="OMIM:214500", source="DOID:2935"} xref: SCTID:111396008 {source="MONDO:equivalentTo", source="DOID:2935"} xref: UMLS:C0007965 {source="Orphanet:167/e", source="MONDO:equivalentTo", source="OMIM:214500", source="MONDO:ncbi_mim2gene_medline", source="DOID:2935", source="NCIT:C2941", source="Orphanet:167"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0004884 ! eye degenerative disorder is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia is_a: MONDO:0015541 ! hereditary hemophagocytic lymphohistiocytosis is_a: MONDO:0017305 {source="Orphanet:167"} ! syndromic oculocutaneous albinism is_a: MONDO:0017739 {source="Orphanet:167"} ! disorder of lysosomal-related organelles is_a: MONDO:0020118 {source="Orphanet:167"} ! dense granule disease is_a: MONDO:0020127 {source="MONDO:0016132-obsoleted"} ! hereditary peripheral neuropathy is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:167"} ! inherited neurodegenerative disorder property_value: closeMatch http://identifiers.org/meddra/10008415 property_value: exactMatch DOID:2935 property_value: exactMatch http://identifiers.org/mesh/D002609 property_value: exactMatch http://identifiers.org/snomedct/111396008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007965 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E70.330 property_value: exactMatch https://omim.org/entry/214500 property_value: exactMatch NCIT:C2941 property_value: exactMatch Orphanet:167 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6035/chediak-higashi-syndrome xsd:anyURI {source="GARD:0006035"} [Term] id: MONDO:0008964 name: congenital secretory chloride diarrhea 1 def: "Any secretory diarrhea in which the cause of the disease is a mutation in the SLC26A3 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:53689"} synonym: "chloride diarrhea, congenital, Finnish type" RELATED [OMIM:214700] synonym: "Chloridorrhea, congenital" RELATED [OMIM:214700] synonym: "CLD" RELATED ABBREVIATION [GARD:0010001] synonym: "congenital chloride diarrhea" RELATED [Orphanet:53689] synonym: "congenital chloride diarrhea Finnish type" EXACT [DOID:0060296] synonym: "congenital chloride diarrhoea" RELATED OMO:0003005 [] synonym: "congenital chloride diarrhoea Finnish type" EXACT OMO:0003005 [] synonym: "congenital chloridorrhea" EXACT [DOID:0060296, Wikipedia:Congenital_chloride_diarrhea] synonym: "congenital secretory chloride diarrhea type 1" EXACT [DOID:0060296, MONDORULE:1] synonym: "congenital secretory chloride diarrhoea type 1" EXACT OMO:0003005 [] synonym: "Darrow-gamble disease" RELATED [GARD:0010001] synonym: "DIAR1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:214700] synonym: "diarrhea 1, secretory chloride, congenital" RELATED [MONDO:Lexical, OMIM:214700] synonym: "diarrhoea 1, secretory chloride, congenital" RELATED OMO:0003005 [] synonym: "familial chloride diarrhea" RELATED [GARD:0010001] synonym: "familial chloride diarrhoea" RELATED OMO:0003005 [] synonym: "secretory diarrhea caused by mutation in SLC26A3" EXACT [MONDO:design_pattern] synonym: "secretory diarrhoea caused by mutation in SLC26A3" EXACT OMO:0003005 [] synonym: "SLC26A3 secretory diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SLC26A3 secretory diarrhoea" EXACT OMO:0003005 [] xref: DOID:0060296 {source="MONDO:equivalentTo"} xref: ICD9:579.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536210 {source="DOID:0060296", source="Orphanet:53689", source="MONDO:equivalentTo", source="Orphanet:53689/e"} xref: OMIM:214700 {source="DOID:0060296", source="Orphanet:53689", source="MONDO:equivalentTo", source="Orphanet:53689/e"} xref: Orphanet:53689 {source="DOID:0060296", source="MONDO:equivalentTo", source="OMIM:214700"} xref: SCTID:24412005 {source="DOID:0060296", source="MONDO:equivalentTo"} is_a: MONDO:0015178 {source="Orphanet:53689"} ! congenital intestinal transport defect is_a: MONDO:0045032 ! congenital secretory diarrhea property_value: exactMatch DOID:0060296 property_value: exactMatch http://identifiers.org/mesh/C536210 property_value: exactMatch http://identifiers.org/snomedct/24412005 property_value: exactMatch https://omim.org/entry/214700 property_value: exactMatch Orphanet:53689 [Term] id: MONDO:0008965 name: CHARGE syndrome def: "CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's)." [Orphanet:138] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:138"} synonym: "CHARGE association" EXACT [DOID:0050834, GARD:0000029, Orphanet:138] synonym: "Charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and Ear anomalies" RELATED [OMIM:214800] synonym: "CHARGE syndrome" EXACT [OMIM:214800] synonym: "coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies" RELATED [GARD:0000029] synonym: "coloboma, heart defects, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear anomalies association" EXACT [NCIT:C75100] synonym: "coloboma, heart malformation, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear malformations (CHARGE) association" EXACT [NCIT:C75100] synonym: "coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome" EXACT [Orphanet:138] synonym: "Hall-Hittner syndrome" EXACT [GARD:0000029, OMIM:214800, Orphanet:138] xref: DOID:0050834 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10064063 {source="Orphanet:138", source="Orphanet:138/e"} xref: MESH:D058747 {source="Orphanet:138", source="MONDO:equivalentTo", source="DOID:0050834", source="Orphanet:138/e"} xref: NCIT:C75100 {source="MONDO:equivalentTo", source="DOID:0050834"} xref: OMIM:214800 {source="Orphanet:138", source="MONDO:equivalentTo", source="DOID:0050834", source="GARD:0000029", source="Orphanet:138/e"} xref: Orphanet:138 {source="MONDO:equivalentTo", source="DOID:0050834", source="GARD:0000029", source="OMIM:214800"} xref: SCTID:47535005 {source="MONDO:equivalentTo", source="DOID:0050834"} xref: UMLS:C0265354 {source="Orphanet:138", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:0050834", source="NCIT:C75100", source="GARD:0000029", source="Orphanet:138/e", source="OMIM:214800"} is_a: EFO:0003777 {source="MONDO:0015506-obsoleted"} ! heart disease is_a: MONDO:0015160 {source="Orphanet:138"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0015620 {source="Orphanet:138"} ! syndromic urogenital tract malformation is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism is_a: MONDO:0015823 ! primary immunodeficiency due to a defect in adaptive immunity is_a: MONDO:0021635 {source="Wikipedia:Neurocristopathy"} ! neurocristopathy property_value: closeMatch http://identifiers.org/meddra/10064063 property_value: exactMatch DOID:0050834 property_value: exactMatch http://identifiers.org/mesh/D058747 property_value: exactMatch http://identifiers.org/snomedct/47535005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265354 property_value: exactMatch https://omim.org/entry/214800 property_value: exactMatch NCIT:C75100 property_value: exactMatch Orphanet:138 property_value: excluded_subClassOf MONDO:0015501 {source="Orphanet:138"} property_value: excluded_subClassOf MONDO:0020237 {source="Orphanet:138"} [Term] id: MONDO:0008966 name: Aagenaes syndrome def: "Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life." [Orphanet:1414] subset: gard_rare {source="GARD:0000370"} subset: ordo_disease {source="Orphanet:1414"} synonym: "Aagenaes syndrome" EXACT [OMIM:214900, Orphanet:1414] synonym: "Chls" RELATED [OMIM:214900] synonym: "cholestasis lymphedema syndrome" RELATED [GARD:0000370] synonym: "cholestasis-edema syndrome, Norwegian type" EXACT [DOID:6691] synonym: "cholestasis-lymphedema syndrome" RELATED [OMIM:214900] synonym: "LCS" RELATED ABBREVIATION [GARD:0000370] synonym: "LCS1" RELATED ABBREVIATION [GARD:0000370] synonym: "lymphedema cholestasis syndrome" RELATED [GARD:0000370] synonym: "lymphedema-cholestasis syndrome" RELATED [OMIM:214900] xref: DOID:6691 {source="MONDO:equivalentTo"} xref: ICD10CM:Q82.0 {source="MONDO:relatedTo", source="Orphanet:1414", source="Orphanet:1414/attributed", source="Orphanet:1414/ntbt"} xref: ICD9:576.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535330 {source="MONDO:equivalentTo", source="DOID:6691"} xref: NCIT:C35709 {source="MONDO:equivalentTo", source="DOID:6691"} xref: OMIM:214900 {source="MONDO:equivalentTo", source="Orphanet:1414", source="DOID:6691", source="Orphanet:1414/e"} xref: Orphanet:1414 {source="MONDO:equivalentTo", source="DOID:6691", source="OMIM:214900"} xref: SCTID:28724005 {source="MONDO:equivalentTo", source="DOID:6691"} xref: UMLS:C0268314 {source="NCIT:C35709", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1414", source="DOID:6691", source="OMIM:214900"} is_a: EFO:0001421 {source="Orphanet:1414", source="Orphanet:1414/inferred"} ! liver disease is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema is_a: MONDO:0019520 {source="MONDO:Redundant", source="Orphanet:1414"} ! syndromic lymphedema relationship: has_characteristic MONDO:0021136 {source="MONDO:0015507"} ! rare property_value: exactMatch DOID:6691 property_value: exactMatch http://identifiers.org/mesh/C535330 property_value: exactMatch http://identifiers.org/snomedct/28724005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268314 property_value: exactMatch https://omim.org/entry/214900 property_value: exactMatch NCIT:C35709 property_value: exactMatch Orphanet:1414 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/370/aagenaes-syndrome xsd:anyURI {source="GARD:0000370"} [Term] id: MONDO:0008967 name: congenital bile acid synthesis defect 4 def: "An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease." [Orphanet:79095] subset: gard_rare {source="GARD:0010046"} subset: ordo_disease {source="Orphanet:79095"} synonym: "2-methylacyl-CoA racemase deficiency" EXACT [Orphanet:79095] synonym: "Alpha-methyl-acyl-CoA racemase deficiency" EXACT [Orphanet:79095] synonym: "AMACR deficiency" BROAD [Orphanet:79095] synonym: "BAS defect type 4" EXACT [Orphanet:79095] synonym: "BASD4" EXACT ABBREVIATION [Orphanet:79095] synonym: "bile acid synthesis defect, congenital, 4" RELATED [MONDO:Lexical, OMIM:214950] synonym: "bile acid synthesis defect, congenital, type 4" EXACT [MONDORULE:1, OMIM:214950] synonym: "CBAS4" EXACT ABBREVIATION [DOID:0111068, MONDO:Lexical, OMIM:214950] synonym: "cholestasis, intrahepatic, with defective conversion of" RELATED [GARD:0010046] synonym: "cholestasis, intrahepatic, with defective conversion of Trihydroxycoprostanic acid to cholic acid" RELATED [OMIM:214950] synonym: "congenital bile acid synthesis defect 4" EXACT [Orphanet:79095] synonym: "congenital bile acid synthesis defect type 4" EXACT [DOID:0111068, MONDORULE:1] synonym: "intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid" EXACT [DOID:0111068] synonym: "liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome" EXACT [Orphanet:79095] synonym: "Trihydroxycoprostanic acid in bile" RELATED [OMIM:214950] synonym: "trihydroxycoprostanic acid in bile" EXACT [DOID:0111068] synonym: "Trihydroxycoprostanic acid to cholic acid" RELATED [GARD:0010046] xref: DOID:0111068 {source="MONDO:equivalentTo"} xref: MESH:C535444 {source="MONDO:equivalentTo", source="Orphanet:79095", source="DOID:0111068", source="Orphanet:79095/e"} xref: OMIM:214950 {source="MONDO:equivalentTo", source="Orphanet:79095", source="DOID:0111068", source="Orphanet:79095/e"} xref: Orphanet:79095 {source="MONDO:equivalentTo", source="OMIM:214950", source="DOID:0111068"} is_a: EFO:0009039 {source="DC-OMIM:214950", source="DOID:0111068", source="OMIM:214950", source="Orphanet:79095"} ! Congenital bile acid synthesis defect is_a: EFO:1001980 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Alpha-methylacyl-CoA racemase deficiency is_a: MONDO:0002320 ! congenital nervous system disorder property_value: exactMatch DOID:0111068 property_value: exactMatch http://identifiers.org/mesh/C535444 property_value: exactMatch https://omim.org/entry/214950 property_value: exactMatch Orphanet:79095 property_value: excluded_subClassOf MONDO:0017753 {source="Orphanet:79095"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1196 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10046/bile-acid-synthesis-defect-congenital-4 xsd:anyURI {source="GARD:0010046"} [Term] id: MONDO:0008970 name: chondrodysplasia Blomstrand type def: "Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality." [Orphanet:50945] subset: gard_rare {source="GARD:0000914"} subset: ordo_malformation_syndrome {source="Orphanet:50945"} synonym: "BLC" EXACT ABBREVIATION [Orphanet:50945] synonym: "Blomstrand chondrodysplasia" EXACT [Orphanet:50945] synonym: "Blomstrand lethal chondrodysplasia" EXACT [DOID:0060387] synonym: "Blomstrand lethal osteochondrodysplasia" RELATED [GARD:0000914] synonym: "Blomstrand osteochondrodysplasia" EXACT [Orphanet:50945] synonym: "Blomstrand type chondrodysplasia" EXACT [NCIT:C131420] synonym: "Blomstrand's lethal chondrodysplasia" RELATED [GARD:0000914] synonym: "BOCD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:215045, Orphanet:50945] synonym: "chondrodysplasia, Blomstrand type" EXACT [MONDO:Lexical, OMIM:215045, Orphanet:50945] xref: DOID:0060387 {source="MONDO:equivalentTo"} xref: MESH:C537914 {source="Orphanet:50945/e", source="DOID:0060387", source="MONDO:equivalentTo", source="Orphanet:50945"} xref: NCIT:C131420 {source="MONDO:equivalentTo"} xref: OMIM:215045 {source="Orphanet:50945/e", source="DOID:0060387", source="MONDO:equivalentTo", source="Orphanet:50945"} xref: Orphanet:50945 {source="DOID:0060387", source="OMIM:215045", source="MONDO:equivalentTo"} xref: UMLS:C1859148 {source="Orphanet:50945/e", source="DOID:0060387", source="OMIM:215045", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C131420", source="Orphanet:50945"} is_a: MONDO:0019702 {source="Orphanet:50945", source="PMID:31633310"} ! neonatal osteosclerotic dysplasia property_value: exactMatch DOID:0060387 property_value: exactMatch http://identifiers.org/mesh/C537914 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859148 property_value: exactMatch https://omim.org/entry/215045 property_value: exactMatch NCIT:C131420 property_value: exactMatch Orphanet:50945 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/914/chondrodysplasia-blomstrand-type xsd:anyURI {source="GARD:0000914"} [Term] id: MONDO:0008972 name: rhizomelic chondrodysplasia punctata type 1 def: "A condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause." [https://rarediseases.info.nih.gov/diseases/6049/rhizomelic-chondrodysplasia-punctata-type-1] subset: gard_rare {source="GARD:0006049"} subset: ordo_etiological_subtype {source="Orphanet:309789"} synonym: "chondrodysplasia punctata, rhizomelic form" RELATED [OMIM:215100] synonym: "chondrodystrophia calcificans punctata" RELATED [OMIM:215100] synonym: "Pbd9" EXACT [DOID:0110851] synonym: "peroxisome biogenesis disorder 9" EXACT [DOID:0110851, OMIM:215100] synonym: "PEX7 rhizomelic chondrodysplasia punctata" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "RCDP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:215100] synonym: "Rcdp1" EXACT [DOID:0110851] synonym: "rhizomelic chondrodysplasia punctata caused by mutation in PEX7" EXACT [MONDO:design_pattern] synonym: "rhizomelic chondrodysplasia punctata type 1" EXACT [https://www.clinicalgenome.org/affiliation/40049/] synonym: "rhizomelic chondrodysplasia punctata, type 1" EXACT [MONDO:Lexical, OMIM:215100] xref: DOID:0110851 {source="MONDO:equivalentTo"} xref: OMIM:215100 {source="Orphanet:309789/e", source="MONDO:equivalentTo", source="DOID:0110851", source="Orphanet:309789"} xref: Orphanet:309789 {source="OMIM:215100", source="MONDO:equivalentTo", source="DOID:0110851"} xref: UMLS:C1859133 {source="OMIM:215100", source="Orphanet:309789/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:309789"} is_a: MONDO:0004884 ! eye degenerative disorder is_a: MONDO:0015776 {source="DOID:0110851", source="MONDO:Redundant", source="OMIM:215100", source="Orphanet:309789"} ! rhizomelic chondrodysplasia punctata is_a: MONDO:0015905 ! syndromic dyslipidemia is_a: MONDO:0100272 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX7 defect property_value: exactMatch DOID:0110851 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859133 property_value: exactMatch https://omim.org/entry/215100 property_value: exactMatch Orphanet:309789 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6049/rhizomelic-chondrodysplasia-punctata-type-1 xsd:anyURI {source="GARD:0006049"} [Term] id: MONDO:0008973 name: chondrodysplasia punctata, Toriello type def: "Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported." [Orphanet:79347] subset: ordo_malformation_syndrome {source="Orphanet:79347"} synonym: "chondrodysplasia punctata syndrome" RELATED [OMIM:215105] synonym: "Toriello-Higgins-Miller syndrome" EXACT [Orphanet:79347] xref: MESH:C565853 {source="MONDO:equivalentTo"} xref: OMIM:215105 {source="Orphanet:79347", source="MONDO:equivalentTo", source="Orphanet:79347/e"} xref: Orphanet:79347 {source="MONDO:equivalentTo", source="OMIM:215105"} xref: SCTID:715631005 {source="MONDO:equivalentTo"} is_a: MONDO:0015775 {source="Orphanet:79347"} ! non-rhizomelic chondrodysplasia punctata property_value: exactMatch http://identifiers.org/mesh/C565853 property_value: exactMatch http://identifiers.org/snomedct/715631005 property_value: exactMatch https://omim.org/entry/215105 property_value: exactMatch Orphanet:79347 [Term] id: MONDO:0008974 name: Greenberg dysplasia def: "A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable." [Orphanet:1426] subset: gard_rare {source="GARD:0008754"} subset: ordo_disease {source="Orphanet:1426"} synonym: "autosomal recessive lethal chondrodystrophy with congenital hydrops" RELATED [GARD:0008754] synonym: "chondrodystrophy, hydropic and prenatally lethal type" RELATED [OMIM:215140] synonym: "GRBGD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:215140] synonym: "Greenberg dysplasia" EXACT [MONDO:Lexical, OMIM:215140] synonym: "Greenberg skeletal dysplasia" RELATED [GARD:0008754] synonym: "hem" RELATED [GARD:0008754] synonym: "hem dysplasia" EXACT [Orphanet:1426] synonym: "hem skeletal dysplasia" RELATED [OMIM:215140] synonym: "hem/Greenberg dysplasia" RELATED [GARD:0008754] synonym: "hydrops, ectopic calcification, moth-eaten skeletal dysplasia" RELATED [GARD:0008754] synonym: "hydrops-ectopic calcification-moth-eaten skeletal dysplasia" RELATED [OMIM:215140] synonym: "hydrops-ectopic calcification-motheaten syndrome" EXACT [Orphanet:1426] synonym: "moth-eaten skeletal dysplasia" RELATED [OMIM:215140] synonym: "skeletal dysplasia, Greenberg type" EXACT [Orphanet:1426] xref: DOID:0111588 {source="MONDO:equivalentTo"} xref: MESH:C535858 {source="MONDO:equivalentTo"} xref: OMIM:215140 {source="MONDO:equivalentTo", source="Orphanet:1426", source="Orphanet:1426/e"} xref: Orphanet:1426 {source="MONDO:equivalentTo", source="OMIM:215140"} xref: SCTID:389261002 {source="MONDO:equivalentTo"} xref: UMLS:C2931048 {source="MONDO:equivalentTo", source="Orphanet:1426", source="OMIM:215140"} xref: UMLS:CN199524 {source="MONDO:equivalentTo"} is_a: MONDO:0019240 {source="Orphanet:1426"} ! sterol biosynthesis disorder is_a: MONDO:0019701 {source="Orphanet:1426", source="PMID:31633310"} ! chondrodysplasia punctata is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy property_value: exactMatch DOID:0111588 property_value: exactMatch http://identifiers.org/mesh/C535858 property_value: exactMatch http://identifiers.org/snomedct/389261002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931048 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199524 property_value: exactMatch https://omim.org/entry/215140 property_value: exactMatch Orphanet:1426 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8754/greenberg-dysplasia xsd:anyURI {source="GARD:0008754"} [Term] id: MONDO:0008975 name: otospondylomegaepiphyseal dysplasia def: "An inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies." [Orphanet:1427] subset: ordo_disease {source="Orphanet:1427"} synonym: "chondrodystrophy with sensorineural deafness" EXACT [DOID:0080026] synonym: "Insley-Astley syndrome" RELATED [GARD:0004130] synonym: "Nance Sweeney chondrodysplasia" RELATED [GARD:0004130] synonym: "Nance-Insley syndrome" EXACT [DOID:0080026] synonym: "Nance-Sweeney chondrodysplasia" EXACT [DOID:0080026] synonym: "OSMED" EXACT ABBREVIATION [MONDO:Lexical, OMIM:215150, Orphanet:1427] synonym: "OSMED syndrome" RELATED [GARD:0004130] synonym: "oto-spondylo-mega-epiphyseal dysplasia" RELATED [GARD:0004130] synonym: "otospondylmegaepiphyseal dysplasia" EXACT [OMIMPS:184840] synonym: "otospondylomegaepiphyseal dysplasia" EXACT [MONDO:Lexical, OMIM:215150] xref: DOID:0080026 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIMPS:184840 {source="MONDO:equivalentTo"} xref: Orphanet:1427 {source="MONDO:equivalentTo", source="OMIM:215150"} xref: SCTID:254060000 {source="MONDO:equivalentTo"} is_a: MONDO:0016761 {source="Orphanet:1427"} ! spondyloepiphyseal dysplasia property_value: exactMatch DOID:0080026 property_value: exactMatch http://identifiers.org/snomedct/254060000 property_value: exactMatch https://omim.org/phenotypicSeries/PS184840 property_value: exactMatch Orphanet:1427 property_value: excluded_subClassOf MONDO:0019686 {source="Orphanet:1427"} [Term] id: MONDO:0008978 name: chordoma def: "Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton." [Orphanet:178] subset: ordo_disease {source="Orphanet:178"} synonym: "CHDM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:215400] synonym: "chordoma" EXACT [MONDO:ambiguous, NCIT:C2947] synonym: "chordoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "chordoma, malignant" EXACT [NCIT:C2947] synonym: "chordoma, susceptibility to" RELATED [MONDO:Lexical, OMIM:215400] synonym: "notochordal sarcoma" EXACT [Orphanet:178] synonym: "notochordoma" EXACT [DOID:3302] synonym: "susceptibility to chordoma" RELATED [OMIM:215400] xref: DOID:3302 {source="MONDO:equivalentTo"} xref: HP:0010762 {source="MONDO:otherHierarchy"} xref: ICDO:9370/3 {source="NCIT:C2947"} xref: MedDRA:10008747 {source="Orphanet:178/e", source="Orphanet:178"} xref: MESH:D002817 {source="DOID:3302", source="Orphanet:178/e", source="MONDO:equivalentTo", source="Orphanet:178"} xref: NCIT:C2947 {source="DOID:3302", source="MONDO:equivalentTo"} xref: OMIM:215400 {source="DOID:3302", source="Orphanet:178/e", source="MONDO:equivalentTo", source="Orphanet:178"} xref: ONCOTREE:CHDM {source="MONDO:equivalentTo"} xref: Orphanet:178 {source="OMIM:215400", source="MONDO:equivalentTo"} xref: UMLS:C0008487 {source="NCIT:C2947", source="DOID:3302", source="OMIM:215400", source="Orphanet:178/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:178"} is_a: MONDO:0002597 {source="DOID:3302", source="NCIT:C2947"} ! notochordal tumor property_value: closeMatch http://identifiers.org/meddra/10008747 property_value: exactMatch DOID:3302 property_value: exactMatch http://identifiers.org/mesh/D002817 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008487 property_value: exactMatch https://omim.org/entry/215400 property_value: exactMatch NCIT:C2947 property_value: exactMatch Orphanet:178 property_value: excluded_subClassOf MONDO:0015959 {source="Orphanet:178"} property_value: excluded_subClassOf MONDO:0019833 {source="Orphanet:178"} property_value: IAO:0000589 "chordoma (disease)" xsd:string [Term] id: MONDO:0008979 name: chorea, benign familial def: "Benign hereditary chorea (BHC) is a rare movement disorder that beginsin infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and vocal tics. The chorea often improves with time. In some cases, myoclonus persists or worsens. Children with BHC can havenormal intellect, but may have learning and behavior problems. Other signs and symptoms include thyroid problems (e.g., hypothyroidism) and lung disease (e.g., recurring infections). Treatment is tailored to each child. Tetrabenazine and levodopa have been tried in individual cases with some success. BHC is caused by mutations in the NKX2-1 gene (also known as the TITF1 gene). It is passed through families in an autosomal dominant fashion." [GARD:0001305] subset: gard_rare synonym: "benign hereditary chorea" RELATED [GARD:0001305] synonym: "chorea familial benign" RELATED [GARD:0001305] synonym: "chorea, benign familial" EXACT [OMIM:215450] xref: MESH:C565851 {source="MONDO:equivalentTo"} xref: OMIM:215450 {source="MONDO:equivalentTo"} xref: UMLS:C1859098 {source="OMIM:215450", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="GARD:0001305"} is_a: EFO:0004152 {source="MESH:C565851", source="Orphanet:1429/btnt"} ! chorea property_value: exactMatch http://identifiers.org/mesh/C565851 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859098 property_value: exactMatch https://omim.org/entry/215450 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1305/benign-hereditary-chorea xsd:anyURI {source="GARD:0001305"} [Term] id: MONDO:0008980 name: ataxia-hypogonadism-choroidal dystrophy syndrome def: "Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome." [Orphanet:1180] subset: ordo_disease {source="Orphanet:1180"} synonym: "ataxia - hypogonadism - choroidal dystrophy" RELATED [GARD:0000944] synonym: "BNHS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:215470] synonym: "Boucher-Neuhauser syndrome" EXACT [MONDO:Lexical, OMIM:215470] synonym: "Boucher-Neuhchäuser syndrome" EXACT [Orphanet:1180] synonym: "Boucher-Neuhäuser syndrome" EXACT [Orphanet:1180] synonym: "chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism" EXACT [GARD:0000944] synonym: "spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy" EXACT [OMIM:215470] xref: DOID:0111265 {source="MONDO:equivalentTo"} xref: MESH:C565850 {source="MONDO:equivalentTo"} xref: OMIM:215470 {source="Orphanet:1180/e", source="MONDO:equivalentTo", source="Orphanet:1180"} xref: Orphanet:1180 {source="MONDO:equivalentTo", source="OMIM:215470"} xref: SCTID:715984007 {source="MONDO:equivalentTo"} xref: UMLS:C1859093 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1180", source="OMIM:215470"} is_a: EFO:0009671 {source="Orphanet:1180"} ! hereditary ataxia is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism property_value: exactMatch DOID:0111265 property_value: exactMatch http://identifiers.org/mesh/C565850 property_value: exactMatch http://identifiers.org/snomedct/715984007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859093 property_value: exactMatch https://omim.org/entry/215470 property_value: exactMatch Orphanet:1180 [Term] id: MONDO:0008982 name: central areolar choroidal dystrophy def: "A hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the center of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity." [Orphanet:75377] subset: ordo_disease {source="Orphanet:75377"} synonym: "areolar atrophy of the macula" EXACT [Orphanet:75377] synonym: "CACD" EXACT ABBREVIATION [Orphanet:75377] synonym: "CACD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:215500] synonym: "central areolar choroidal sclerosis" EXACT [Orphanet:75377] synonym: "choroidal dystrophy" EXACT [MONDO:0000013] synonym: "choroidal dystrophy central areolar" RELATED [GARD:0010049] synonym: "choroidal dystrophy, central areolar, 1" RELATED [MONDO:Lexical, OMIM:215500] xref: ICD9:363.54 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:C535358 {source="Orphanet:75377", source="Orphanet:75377/e", source="MONDO:directSiblingOf"} xref: OMIMPS:215500 {source="MONDO:equivalentTo"} xref: Orphanet:75377 {source="MONDO:equivalentTo", source="OMIM:215500"} xref: SCTID:231996009 {source="MONDO:equivalentTo"} xref: SCTID:312918002 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0001898 {source="MONDO:Redundant"} ! optic choroid disorder property_value: exactMatch http://identifiers.org/snomedct/231996009 property_value: exactMatch http://identifiers.org/snomedct/312918002 property_value: exactMatch https://omim.org/phenotypicSeries/PS215500 property_value: exactMatch Orphanet:75377 [Term] id: MONDO:0008988 name: citrullinemia type I def: "Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I)." [Orphanet:247525] subset: ordo_disease {source="Orphanet:247525"} synonym: "argininosuccinate synthase deficiency" EXACT [Orphanet:247525] synonym: "argininosuccinate synthetase deficiency" EXACT [OMIM:215700, Orphanet:247525] synonym: "argininosuccinic acid synthase deficiency" EXACT [Orphanet:247525] synonym: "argininosuccinic acid synthetase deficiency" EXACT [Orphanet:247525] synonym: "ASS deficiency" EXACT [Orphanet:247525] synonym: "citrullinemia" BROAD [OMIM:215700, OMIM:genemap2] synonym: "citrullinemia 1" RELATED [GARD:0006114] synonym: "citrullinemia type 1" EXACT [Orphanet:247525] synonym: "citrullinemia type I" EXACT [] synonym: "citrullinemia, classic" RELATED [OMIM:215700] synonym: "citrullinemia, type 1" RELATED [OMIM:215700] synonym: "Citrullinuria" RELATED [OMIM:215700] synonym: "classic citrullinemia" EXACT [Orphanet:247525] synonym: "CTLN1" EXACT ABBREVIATION [Orphanet:247525] synonym: "CTNL1" RELATED ABBREVIATION [GARD:0006114] xref: DOID:0070340 {source="MONDO:equivalentTo"} xref: MedDRA:10058298 {source="Orphanet:247525", source="Orphanet:247525/e"} xref: NCIT:C150601 {source="MONDO:equivalentTo"} xref: OMIM:215700 {source="DOID:0070340", source="Orphanet:247525", source="MONDO:equivalentTo", source="Orphanet:247525/e"} xref: Orphanet:247525 {source="MONDO:equivalentTo", source="OMIM:215700"} xref: SCTID:398680004 {source="MONDO:equivalentTo"} is_a: MONDO:0015991 {source="DC-OMIM:215700", source="DOID:0070340", source="NCIT:C150601", source="Orphanet:247525"} ! citrullinemia is_a: MONDO:0800153 {source="PMID:33340416"} ! urea cycle disorder or inherited hyperammonemia property_value: closeMatch http://identifiers.org/meddra/10058298 property_value: exactMatch DOID:0070340 property_value: exactMatch http://identifiers.org/snomedct/398680004 property_value: exactMatch https://omim.org/entry/215700 property_value: exactMatch NCIT:C150601 property_value: exactMatch Orphanet:247525 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0008990 name: cleft larynx, posterior subset: gard_rare synonym: "cleft larynx, posterior" EXACT [GARD:0004015, OMIM:215800] synonym: "laryngotracheoesophageal cleft pulmonary hypoplasia" RELATED [GARD:0004015] synonym: "Novak syndrome" RELATED [GARD:0004015] synonym: "stridor, congenital" RELATED [OMIM:215800] xref: OMIM:215800 {source="GARD:0004015", source="MONDO:equivalentTo"} xref: Orphanet:2005 {source="GARD:0004015", source="MONDO:equivalentObsolete"} xref: Orphanet:93940 {source="OMIM:215800", source="MONDO:directSiblingOf"} is_a: MONDO:0016060 {source="Orphanet:2004/btnt"} ! laryngotracheoesophageal cleft property_value: exactMatch https://omim.org/entry/215800 [Term] id: MONDO:0008991 name: Verloove Vanhorick-Brubakk syndrome def: "Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981." [Orphanet:3429] subset: gard_rare {source="GARD:0005482"} subset: ordo_malformation_syndrome {source="Orphanet:3429"} synonym: "cleft limb heart malformation syndrome" RELATED [GARD:0005482] synonym: "cleft lip-limb and heart malformations syndrome" EXACT [Orphanet:3429] synonym: "cleft-limb-heart malformation syndrome" RELATED [OMIM:215850] synonym: "cleft-limb-heart malformation syndrome syndrome" EXACT [Orphanet:3429] synonym: "Clh syndrome" RELATED [OMIM:215850] synonym: "Verloove Vanhorick Brubakk syndrome" RELATED [GARD:0005482] xref: MESH:C536541 {source="Orphanet:3429/e", source="MONDO:equivalentTo", source="Orphanet:3429"} xref: OMIM:215850 {source="Orphanet:3429/e", source="MONDO:equivalentTo", source="Orphanet:3429"} xref: Orphanet:3429 {source="OMIM:215850", source="MONDO:equivalentTo"} xref: SCTID:764697003 {source="MONDO:equivalentTo"} xref: UMLS:C1859082 {source="Orphanet:3429/e", source="OMIM:215850", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3429"} is_a: MONDO:0015161 {source="Orphanet:3429"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability property_value: exactMatch http://identifiers.org/mesh/C536541 property_value: exactMatch http://identifiers.org/snomedct/764697003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859082 property_value: exactMatch https://omim.org/entry/215850 property_value: exactMatch Orphanet:3429 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5482/verloove-vanhorick-brubakk-syndrome xsd:anyURI {source="GARD:0005482"} [Term] id: MONDO:0008992 name: Juberg-Hayward syndrome def: "Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit." [Orphanet:2319] subset: gard_rare {source="GARD:0003060"} subset: ordo_malformation_syndrome {source="Orphanet:2319"} synonym: "cleft LIP/palate with abnormal thumbs and microcephaly" RELATED [OMIM:216100] synonym: "cleft lip/palate-abnormal thumbs-microcephaly syndrome" EXACT [Orphanet:2319] synonym: "JHS" RELATED ABBREVIATION [GARD:0003060] synonym: "Juberg-Hayward syndrome" EXACT [OMIM:216100] synonym: "Orocraniodigital syndrome" EXACT [OMIM:216100, Orphanet:2319] xref: MESH:C537690 {source="Orphanet:2319/e", source="MONDO:equivalentTo", source="Orphanet:2319"} xref: OMIM:216100 {source="Orphanet:2319/e", source="MONDO:equivalentTo", source="Orphanet:2319"} xref: Orphanet:2319 {source="OMIM:216100", source="MONDO:equivalentTo"} xref: SCTID:721874001 {source="MONDO:equivalentTo"} xref: UMLS:C0796099 {source="OMIM:216100", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2319"} is_a: MONDO:0015161 {source="Orphanet:2319"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability property_value: exactMatch http://identifiers.org/mesh/C537690 property_value: exactMatch http://identifiers.org/snomedct/721874001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796099 property_value: exactMatch https://omim.org/entry/216100 property_value: exactMatch Orphanet:2319 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3060/juberg-hayward-syndrome xsd:anyURI {source="GARD:0003060"} [Term] id: MONDO:0008993 name: cleft palate-stapes fixation-oligodontia syndrome def: "Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971." [Orphanet:2010] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2010"} synonym: "cleft palate stapes fixation oligodontia" RELATED [GARD:0001393] synonym: "cleft palate, deafness, and oligodontia" RELATED [OMIM:216300] xref: MESH:C565844 {source="MONDO:equivalentTo"} xref: OMIM:216300 {source="Orphanet:2010/e", source="MONDO:equivalentTo", source="GARD:0001393", source="Orphanet:2010"} xref: Orphanet:2010 {source="OMIM:216300", source="MONDO:equivalentTo"} xref: UMLS:C1859081 {source="OMIM:216300", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2010"} is_a: MONDO:0021147 {source="Orphanet:2010", source="Orphanet:2010/inferred"} ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C565844 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859081 property_value: exactMatch https://omim.org/entry/216300 property_value: exactMatch Orphanet:2010 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1393/cleft-palate-stapes-fixation-oligodontia xsd:anyURI {source="GARD:0001393"} [Term] id: MONDO:0008995 name: Yunis-Varon syndrome def: "Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/331/yunis-varon-syndrome] subset: gard_rare {source="GARD:0000331"} subset: ordo_malformation_syndrome {source="Orphanet:3472"} synonym: "cleidocranial dysplasia with micrognathia, absent thumbs, and distal Aphalangia" RELATED [OMIM:216340] synonym: "cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia" EXACT [DOID:0060589] synonym: "cleidocranial dysplasia, micrognathia, absent thumbs, & distal aphalangia" RELATED [GARD:0000331] synonym: "cleidocranial dysplasia-micrognathia-absent thumbs syndrome" EXACT [DOID:0060589, Orphanet:3472] synonym: "Yunis Varon syndrome" RELATED [GARD:0000331] synonym: "Yunis-Varon syndrome" EXACT [MONDO:Lexical, OMIM:216340] synonym: "Yunis-Varón syndrome" RELATED [GARD:0000331] synonym: "YVS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:216340] xref: DOID:0060589 {source="MONDO:equivalentTo"} xref: MESH:C536719 {source="Orphanet:3472/e", source="DOID:0060589", source="MONDO:equivalentTo", source="Orphanet:3472"} xref: OMIM:216340 {source="Orphanet:3472/e", source="DOID:0060589", source="MONDO:equivalentTo", source="Orphanet:3472"} xref: Orphanet:3472 {source="MONDO:equivalentTo", source="OMIM:216340"} xref: UMLS:C1857663 {source="Orphanet:3472/e", source="DOID:0060589", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:216340", source="Orphanet:3472"} is_a: MONDO:0002254 {source="DOID:0060589"} ! syndromic disease is_a: MONDO:0018230 {source="MONDO:0019709-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! skeletal dysplasia property_value: exactMatch DOID:0060589 property_value: exactMatch http://identifiers.org/mesh/C536719 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857663 property_value: exactMatch https://omim.org/entry/216340 property_value: exactMatch Orphanet:3472 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/331/yunis-varon-syndrome xsd:anyURI {source="GARD:0000331"} [Term] id: MONDO:0008996 name: obsolete COACH syndrome 1 def: "OBSOLETE. A very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." [Orphanet:1454] subset: ordo_disease {source="Orphanet:1454"} property_value: excluded_subClassOf MONDO:0000001 {source="Orphanet:1454"} property_value: excluded_subClassOf MONDO:0015160 {source="Orphanet:1454"} property_value: excluded_subClassOf MONDO:0017118 {source="Orphanet:1454"} property_value: excluded_subClassOf MONDO:0043007 {source="Orphanet:1454"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4986 xsd:anyURI is_obsolete: true consider: MONDO:0100349 consider: MONDO:0800103 [Term] id: MONDO:0008998 name: Cockayne syndrome type 3 def: "Cockayne syndrome type III, also known as the mild form of Cockayne syndrome, is a rare genetic disorder that causes early (premature) aging. Unlike the more severe forms of this condition, individuals with Cockayne syndrome type III can have normal growth and development. Symptoms may include sunlight sensitivity (photosensitivity), hearing loss, eye and bone abnormalities, and changes to the brain that can be seen on imaging (brain MRIs). In general, symptoms of Cockayne syndrome type III are usually not noticeable until later in childhood." [http://www.diseaseinfosearch.org/Cockayne+Syndrome+Type+III/1704] comment: Editor note: this is obsolete in OMIM but is still a valid class in Orphanet. No info in GHR subset: ordo_clinical_subtype {source="Orphanet:90324"} synonym: "Cockayne syndrome type 3" EXACT [GARD:0001417] synonym: "Cockayne syndrome type C" RELATED [GARD:0001417] synonym: "Cockayne syndrome type III" EXACT [Orphanet:90324] synonym: "Cockayne syndrome, type III" RELATED [OMIM:216411] xref: OMIM:216411 {source="MONDO:equivalentObsolete", source="OMIM:216400", source="Orphanet:90324/btnt", source="GARD:0001417", source="Orphanet:90324"} xref: Orphanet:90324 {source="OMIM:216411", source="MONDO:equivalentTo", source="GARD:0001417"} is_a: MONDO:0016006 {source="DC-OMIM:216411", source="Orphanet:90324"} ! Cockayne syndrome property_value: exactMatch Orphanet:90324 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1417/cockayne-syndrome-type-iii xsd:anyURI {source="GARD:0001417"} [Term] id: MONDO:0008999 name: Cohen syndrome def: "Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." [Orphanet:193] subset: clingen subset: gard_rare {source="GARD:0006126"} subset: ordo_malformation_syndrome {source="Orphanet:193"} synonym: "Chs1" RELATED [OMIM:216550] synonym: "Chs1, formerly" RELATED [OMIM:216550] synonym: "Coh" RELATED [OMIM:216550] synonym: "COH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:216550] synonym: "Cohen syndrome" EXACT [MONDO:Lexical, OMIM:216550] synonym: "cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness" EXACT [OMIM:216550] synonym: "hypotonia, obesity, and prominent incisors" RELATED [OMIM:216550] synonym: "pepper syndrome" RELATED [OMIM:216550] xref: DOID:0111590 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10049066 {source="Orphanet:193", source="Orphanet:193/e"} xref: MESH:C536438 {source="MONDO:equivalentTo", source="Orphanet:193", source="Orphanet:193/e"} xref: OMIM:216550 {source="MONDO:equivalentTo", source="Orphanet:193", source="Orphanet:193/e"} xref: Orphanet:193 {source="OMIM:216550", source="MONDO:equivalentTo"} xref: SCTID:56604005 {source="MONDO:equivalentTo"} xref: UMLS:C1854061 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:193", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia is_a: MONDO:0015159 {source="Orphanet:193"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0016565 {source="Orphanet:193"} ! syndromic genetic obesity is_a: MONDO:0020240 {source="Orphanet:193"} ! syndromic retinitis pigmentosa property_value: closeMatch http://identifiers.org/meddra/10049066 property_value: exactMatch DOID:0111590 property_value: exactMatch http://identifiers.org/mesh/C536438 property_value: exactMatch http://identifiers.org/snomedct/56604005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854061 property_value: exactMatch https://omim.org/entry/216550 property_value: exactMatch Orphanet:193 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6126/cohen-syndrome xsd:anyURI {source="GARD:0006126"} [Term] id: MONDO:0009000 name: familial reactive perforating collagenosis def: "Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules." [Orphanet:79147] subset: gard_rare {source="GARD:0013331"} subset: ordo_disease {source="Orphanet:79147"} synonym: "collagenosis, familial reactive perforating" RELATED [MONDO:Lexical, OMIM:216700] synonym: "inherited reactive perforating collagenosis" RELATED [GARD:0013331] synonym: "RPC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:216700] xref: MESH:C565687 {source="MONDO:equivalentTo"} xref: OMIM:216700 {source="Orphanet:79147/e", source="MONDO:equivalentTo", source="Orphanet:79147"} xref: Orphanet:79147 {source="MONDO:equivalentTo", source="OMIM:216700"} xref: UMLS:C1857624 {source="MONDO:equivalentTo", source="OMIM:216700", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:79147"} is_a: MONDO:0019292 {source="Orphanet:79147", source="Orphanet:79147/inferred"} ! dermis elastic tissue disorder property_value: exactMatch http://identifiers.org/mesh/C565687 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857624 property_value: exactMatch https://omim.org/entry/216700 property_value: exactMatch Orphanet:79147 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13331/familial-reactive-perforating-collagenosis xsd:anyURI {source="GARD:0013331"} [Term] id: MONDO:0009001 name: macular coloboma-cleft palate-hallux valgus syndrome def: "Macular coloboma-cleft palate-hallux valgus syndrome is characterized by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive." [Orphanet:91494] subset: ordo_malformation_syndrome {source="Orphanet:91494"} synonym: "coloboma of macula and skeletal anomalies" RELATED [OMIM:216800] xref: MESH:C565686 {source="MONDO:equivalentTo"} xref: OMIM:216800 {source="Orphanet:91494", source="MONDO:equivalentTo", source="Orphanet:91494/e"} xref: Orphanet:91494 {source="MONDO:equivalentTo", source="OMIM:216800"} xref: SCTID:722463001 {source="MONDO:equivalentTo"} xref: UMLS:C1857619 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:216800"} is_a: MONDO:0020242 {source="MONDO:0020243-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! hereditary macular dystrophy property_value: exactMatch http://identifiers.org/mesh/C565686 property_value: exactMatch http://identifiers.org/snomedct/722463001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857619 property_value: exactMatch https://omim.org/entry/216800 property_value: exactMatch Orphanet:91494 [Term] id: MONDO:0009007 name: Jalili syndrome def: "Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI) and cone-rod retinal dystrophy (CORD)." [Orphanet:1873] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1873"} synonym: "cone rod dystrophy-amelogenesis imperfecta syndrome" EXACT [Orphanet:1873] synonym: "cone-rod dystrophy amelogenesis imperfecta" RELATED [GARD:0001463] synonym: "cone-rod dystrophy and amelogenesis imperfecta" RELATED [OMIM:217080] synonym: "cone-rod dystrophy with amelogenesis imperfecta" RELATED [GARD:0001463] synonym: "Jalili syndrome" EXACT [GARD:0001463, OMIM:217080] xref: DOID:0111404 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.5 {source="Orphanet:1873/attributed", source="Orphanet:1873/ntbt", source="MONDO:relatedTo", source="Orphanet:1873"} xref: ICD9:362.75 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:520.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C000596385 {source="MONDO:equivalentTo"} xref: OMIM:217080 {source="GARD:0001463", source="Orphanet:1873", source="MONDO:equivalentTo", source="Orphanet:1873/e"} xref: Orphanet:1873 {source="GARD:0001463", source="MONDO:equivalentTo", source="OMIM:217080"} xref: SCTID:707608003 {source="MONDO:equivalentTo"} xref: UMLS:C3495589 {source="Orphanet:1873", source="MONDO:equivalentTo", source="OMIM:217080"} xref: UMLS:CN200616 {source="MONDO:equivalentTo"} is_a: MONDO:0021147 {source="Orphanet:1873", source="Orphanet:1873/inferred"} ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch DOID:0111404 property_value: exactMatch http://identifiers.org/mesh/C000596385 property_value: exactMatch http://identifiers.org/snomedct/707608003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3495589 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200616 property_value: exactMatch https://omim.org/entry/217080 property_value: exactMatch Orphanet:1873 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1463/cone-rod-dystrophy-amelogenesis-imperfecta xsd:anyURI {source="GARD:0001463"} [Term] id: MONDO:0009008 name: heart defect - tongue hamartoma - polysyndactyly syndrome subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1338"} synonym: "CHDTHP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:217085] synonym: "congenital heart defects, hamartomas of tongue, and polysyndactyly" RELATED [MONDO:Lexical, OMIM:217085] synonym: "heart defect - tongue hamartoma - polysyndactyly syndrome" EXACT [] synonym: "heart defect, tongue hamartoma and polysyndactyly" RELATED [GARD:0002612] synonym: "Orstavik Lindemann Solberg syndrome" RELATED [GARD:0004166] synonym: "Ostravik-Lindemann-Solberg syndrome" EXACT [Orphanet:1338] xref: DOID:0111591 {source="MONDO:equivalentTo"} xref: MESH:C535849 {source="MONDO:equivalentTo", source="Orphanet:1338", source="Orphanet:1338/e"} xref: OMIM:217085 {source="MONDO:equivalentTo", source="GARD:0002612", source="Orphanet:1338", source="Orphanet:1338/e"} xref: Orphanet:1338 {source="MONDO:equivalentTo", source="OMIM:217085"} xref: UMLS:C2931046 {source="MONDO:equivalentTo", source="GARD:0002612", source="Orphanet:1338", source="Orphanet:1338/e"} is_a: MONDO:0015161 {source="Orphanet:1338"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch DOID:0111591 property_value: exactMatch http://identifiers.org/mesh/C535849 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931046 property_value: exactMatch https://omim.org/entry/217085 property_value: exactMatch Orphanet:1338 [Term] id: MONDO:0009009 name: hypoplasminogenemia def: "Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterized by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing." [Orphanet:722] subset: ordo_disease {source="Orphanet:722"} synonym: "Dysplasminogenemia" RELATED [OMIM:217090] synonym: "hypoplasminogenemia" EXACT [] synonym: "ligneous conjunctivitis" RELATED [OMIM:217090] synonym: "plasminogen deficiency type 1" EXACT [Orphanet:722] synonym: "plasminogen deficiency, type 1" RELATED [OMIM:217090] synonym: "plasminogen deficiency, type 2" RELATED [OMIM:217090] synonym: "plasminogen deficiency, type I" RELATED [OMIM:217090] synonym: "type 1 plasminogen deficiency" RELATED [GARD:0004380] xref: DOID:0111592 {source="MONDO:equivalentTo"} xref: MESH:C580017 {source="MONDO:equivalentTo"} xref: OMIM:217090 {source="Orphanet:722", source="MONDO:equivalentTo", source="Orphanet:722/e"} xref: Orphanet:722 {source="MONDO:equivalentTo", source="OMIM:217090"} xref: Orphanet:97231 {source="MONDO:relatedTo", source="OMIM:217090"} xref: SCTID:95840007 {source="MONDO:equivalentTo"} xref: UMLS:C0398621 {source="Orphanet:722", source="MONDO:equivalentTo", source="Orphanet:722/e"} xref: UMLS:C1274789 {source="MONDO:relatedTo", source="OMIM:217090"} xref: UMLS:C1968804 {source="Orphanet:722", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:217090"} is_a: MONDO:0002242 {source="MESH:C580017"} ! coagulation protein disease is_a: MONDO:0021181 ! inherited blood coagulation disorder property_value: exactMatch DOID:0111592 property_value: exactMatch http://identifiers.org/mesh/C580017 property_value: exactMatch http://identifiers.org/snomedct/95840007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398621 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1968804 property_value: exactMatch https://omim.org/entry/217090 property_value: exactMatch Orphanet:722 property_value: relatedMatch Orphanet:97231 [Term] id: MONDO:0009011 name: obsolete constriction rings syndrome property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5001 xsd:anyURI is_obsolete: true replaced_by: MONDO:0015167 [Term] id: MONDO:0009012 name: multiple pterygium-malignant hyperthermia syndrome def: "Malignant hyperthermia-arthrogryposis-torticollisis an extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988." [Orphanet:2215] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2215"} synonym: "contractures, congenital, torticollis, and malignant hyperthermia" RELATED [OMIM:217150] synonym: "froster-Iskenius-Waterson syndrome" RELATED [GARD:0003361] synonym: "froster-Iskenius-Waterson-Hall syndrome" EXACT [Orphanet:2215] synonym: "malignant hyperthermia - arthrogryposis - torticollis" RELATED [GARD:0003361] synonym: "malignant hyperthermia arthrogryposis torticollis" RELATED [GARD:0003361] synonym: "malignant hyperthermia-arthrogryposis-torticollis syndrome" EXACT [Orphanet:2215] xref: MESH:C565679 {source="MONDO:equivalentTo"} xref: OMIM:217150 {source="MONDO:equivalentTo", source="Orphanet:2215", source="GARD:0003361", source="Orphanet:2215/e"} xref: Orphanet:2215 {source="MONDO:equivalentTo", source="OMIM:217150", source="GARD:0003361"} xref: UMLS:C1857576 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2215", source="OMIM:217150"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015168 {source="Orphanet:2215"} ! arthrogryposis multiplex congenita property_value: exactMatch http://identifiers.org/mesh/C565679 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857576 property_value: exactMatch https://omim.org/entry/217150 property_value: exactMatch Orphanet:2215 property_value: excluded_subClassOf MONDO:0015501 {source="Orphanet:2215"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3361/malignant-hyperthermia-arthrogryposis-torticollis xsd:anyURI {source="GARD:0003361"} [Term] id: MONDO:0009015 name: corneal dystrophy-perceptive deafness syndrome def: "Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED) with progressive, postlingual sensorineural hearing loss." [Orphanet:1490] subset: ordo_malformation_syndrome {source="Orphanet:1490"} synonym: "CDPD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:217400, Orphanet:1490] synonym: "Cdpd1" RELATED [OMIM:217400] synonym: "congenital corneal dystrophy, progressive sensorineural deafness" RELATED [GARD:0001529] synonym: "corneal dystrophy and perceptive deafness" RELATED [MONDO:Lexical, OMIM:217400] synonym: "corneal dystrophy and sensorineural deafness" RELATED [OMIM:217400] synonym: "corneal dystrophy with progressive deafness" EXACT [Orphanet:1490] synonym: "corneal endothelial dystrophy and perceptive deafness" EXACT [OMIM:217400, OMIM:genemap2] synonym: "Harboyan syndrome" EXACT [OMIM:217400, Orphanet:1490] xref: DOID:0111620 {source="MONDO:equivalentTo"} xref: MESH:C535473 {source="Orphanet:1490/e", source="MONDO:equivalentTo", source="Orphanet:1490"} xref: OMIM:217400 {source="Orphanet:1490/e", source="MONDO:equivalentTo", source="Orphanet:1490"} xref: Orphanet:1490 {source="OMIM:217400", source="MONDO:equivalentTo"} xref: SCTID:720749004 {source="MONDO:equivalentTo"} xref: UMLS:C1857572 {source="OMIM:217400", source="Orphanet:1490/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1490"} is_a: MONDO:0020215 {source="Orphanet:1490"} ! syndromic corneal dystrophy property_value: exactMatch DOID:0111620 property_value: exactMatch http://identifiers.org/mesh/C535473 property_value: exactMatch http://identifiers.org/snomedct/720749004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857572 property_value: exactMatch https://omim.org/entry/217400 property_value: exactMatch Orphanet:1490 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009018 name: central cloudy dystrophy of François def: "Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision." [Orphanet:98972] subset: ordo_disease {source="Orphanet:98972"} synonym: "CCDF" EXACT ABBREVIATION [MONDO:Lexical, OMIM:217600, Orphanet:98972] synonym: "central cloudy corneal dystrophy of François" EXACT [Orphanet:98972] synonym: "central cloudy dystrophy of Francois" EXACT [MONDO:Lexical, OMIM:217600] synonym: "central cloudy dystrophy of François" EXACT [Orphanet:98972] synonym: "corneal dystrophy, central type" RELATED [OMIM:217600] xref: MESH:C563262 {source="MONDO:equivalentTo"} xref: OMIM:217600 {source="Orphanet:98972", source="MONDO:equivalentTo", source="Orphanet:98972/e"} xref: Orphanet:98972 {source="OMIM:217600", source="MONDO:equivalentTo"} xref: SCTID:419074008 {source="MONDO:equivalentTo"} xref: UMLS:C1622427 {source="Orphanet:98972", source="OMIM:217600", source="MONDO:equivalentTo", source="Orphanet:98972/e", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0020213 {source="Orphanet:98972-textdef"} ! stromal corneal dystrophy is_a: MONDO:0020214 {source="Orphanet:98972"} ! posterior corneal dystrophy property_value: exactMatch http://identifiers.org/mesh/C563262 property_value: exactMatch http://identifiers.org/snomedct/419074008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1622427 property_value: exactMatch https://omim.org/entry/217600 property_value: exactMatch Orphanet:98972 [Term] id: MONDO:0009019 name: congenital hereditary endothelial dystrophy of cornea def: "A rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision." [https://orcid.org/0000-0001-5208-3432, Orphanet:293603] subset: gard_rare subset: ordo_disease {source="Orphanet:293603"} synonym: "autosomal recessive CHED" EXACT [Orphanet:293603] synonym: "autosomal recessive congenital hereditary endothelial dystrophy" EXACT [Orphanet:293603] synonym: "CHED" EXACT ABBREVIATION [DOID:0060649, MESH:C536439] synonym: "CHED2" EXACT ABBREVIATION [GARD:0006196, MONDO:Lexical, OMIM:217700, Orphanet:293603] synonym: "CHED2, formerly" RELATED [MESH:C536439] synonym: "CHEDII" EXACT ABBREVIATION [Orphanet:293603] synonym: "congenital hereditary endothelial dystrophy of cornea" EXACT [MESH:C536439, OMIM:217700] synonym: "congenital hereditary endothelial dystrophy of the cornea" RELATED [GARD:0006196, MESH:C536439] synonym: "congenital hereditary endothelial dystrophy type 2" EXACT [Orphanet:293603] synonym: "congenital hereditary endothelial dystrophy type II" RELATED [Orphanet:293603] synonym: "corneal dystrophy, congenital hereditary endothelial" RELATED [GARD:0006196, MESH:C536439, OMIM:217700] synonym: "corneal endothelial dystrophy" RELATED [MESH:C536439, OMIM:217700] synonym: "corneal endothelial dystrophy 2" RELATED [MESH:C536439] synonym: "corneal endothelial dystrophy 2, autosomal recessive" RELATED [MONDO:Lexical, OMIM:217700] synonym: "corneal endothelial dystrophy 2, autosomal recessive, formerly" RELATED [MESH:C536439] synonym: "corneal endothelial dystrophy type 2" RELATED [GARD:0006196] synonym: "corneal endothelial dystrophy, autosomal recessive" EXACT [OMIM:217700, OMIM:genemap2] synonym: "infantile hereditary endothelial dystrophy" EXACT [Orphanet:293603] xref: DOID:0060649 {source="MONDO:equivalentTo"} xref: MESH:C536439 {source="MONDO:equivalentTo"} xref: OMIM:217700 {source="Orphanet:293603/e", source="MONDO:equivalentTo", source="GARD:0006196", source="DOID:0060649", source="Orphanet:293603"} xref: Orphanet:293603 {source="MONDO:equivalentTo", source="OMIM:217700", source="GARD:0006196"} is_a: MONDO:0000766 {source="DOID:0060649"} ! corneal endothelial dystrophy is_a: MONDO:0020214 {source="Orphanet:293603"} ! posterior corneal dystrophy property_value: exactMatch DOID:0060649 property_value: exactMatch http://identifiers.org/mesh/C536439 property_value: exactMatch https://omim.org/entry/217700 property_value: exactMatch Orphanet:293603 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1368 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6196/corneal-endothelial-dystrophy-type-2 xsd:anyURI {source="GARD:0006196"} [Term] id: MONDO:0009020 name: macular corneal dystrophy def: "Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment." [Orphanet:98969] subset: ordo_disease {source="Orphanet:98969"} synonym: "corneal dystrophy Groenouw type II" EXACT [Orphanet:98969] synonym: "corneal dystrophy, macular type" RELATED [OMIM:217800] synonym: "Fehr corneal dystrophy" EXACT [DOID:2565, Orphanet:98969] synonym: "Groenouw type 2 corneal dystrophy" RELATED [OMIM:217800] synonym: "Groenouw type II corneal dystrophy" RELATED [GARD:0006953] synonym: "macular corneal dystrophy" EXACT [] synonym: "macular corneal dystrophy type 1" RELATED [GARD:0006953] synonym: "macular corneal dystrophy, type 1" RELATED [OMIM:217800] synonym: "macular corneal dystrophy, type 2" RELATED [OMIM:217800] synonym: "macular dystrophy, corneal" RELATED [MONDO:Lexical, OMIM:217800] synonym: "macular dystrophy, corneal type 1" RELATED [GARD:0006953] synonym: "macular dystrophy, corneal, 1" EXACT [DOID:2565] synonym: "MCD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:217800, Orphanet:98969] synonym: "Mcdc1" RELATED [OMIM:217800] synonym: "Mcdc1, formerly" RELATED [OMIM:217800] xref: DOID:2565 {source="MONDO:equivalentTo"} xref: ICD10CM:H18.55 {source="DOID:2565", source="MONDO:equivalentTo"} xref: ICD9:371.55 {source="DOID:2565", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10025406 {source="Orphanet:98969", source="Orphanet:98969/e"} xref: MESH:C537834 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: NCIT:C34793 {source="DOID:2565", source="MONDO:equivalentTo"} xref: OMIM:217800 {source="DOID:2565", source="MONDO:equivalentTo", source="Orphanet:98969", source="Orphanet:98969/e"} xref: Orphanet:98969 {source="MONDO:equivalentTo", source="OMIM:217800"} xref: SCTID:60258001 {source="DOID:2565", source="MONDO:equivalentTo"} xref: UMLS:C0024439 {source="DOID:2565", source="MONDO:equivalentTo", source="NCIT:C34793", source="Orphanet:98969", source="Orphanet:98969/e"} is_a: MONDO:0020213 {source="DOID:2565", source="Orphanet:98969"} ! stromal corneal dystrophy is_a: MONDO:0020242 ! hereditary macular dystrophy property_value: closeMatch http://identifiers.org/meddra/10025406 property_value: exactMatch DOID:2565 property_value: exactMatch http://identifiers.org/mesh/C537834 property_value: exactMatch http://identifiers.org/snomedct/60258001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024439 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H18.55 property_value: exactMatch https://omim.org/entry/217800 property_value: exactMatch NCIT:C34793 property_value: exactMatch Orphanet:98969 [Term] id: MONDO:0009021 name: Toriello-Carey syndrome def: "Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia." [Orphanet:3338] subset: gard_rare {source="GARD:0005225"} subset: ordo_malformation_syndrome {source="Orphanet:3338"} synonym: "agenesis of corpus callosum with facial anomalies and Robin sequence" RELATED [GARD:0005225] synonym: "corpus callosum agenesis facial anomalies Robin sequence" RELATED [GARD:0005225] synonym: "corpus callosum agenesis-blepharophimosis-Robin sequence syndrome" EXACT [Orphanet:3338] synonym: "corpus callosum, agenesis of, with facial anomalies and ROBIN sequence" RELATED [OMIM:217980] synonym: "Toriello-Carey syndrome" EXACT [OMIM:217980] xref: MESH:C563127 {source="MONDO:equivalentTo"} xref: OMIM:217980 {source="MONDO:equivalentTo", source="Orphanet:3338", source="Orphanet:3338/e"} xref: Orphanet:3338 {source="OMIM:217980", source="MONDO:equivalentTo"} xref: SCTID:722477003 {source="MONDO:equivalentTo"} xref: UMLS:C0796184 {source="OMIM:217980", source="MONDO:equivalentTo", source="Orphanet:3338", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015160 {source="Orphanet:3338"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome property_value: exactMatch http://identifiers.org/mesh/C563127 property_value: exactMatch http://identifiers.org/snomedct/722477003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796184 property_value: exactMatch https://omim.org/entry/217980 property_value: exactMatch Orphanet:3338 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5225/toriello-carey-syndrome xsd:anyURI {source="GARD:0005225"} [Term] id: MONDO:0009024 name: cortical blindness-intellectual disability-polydactyly syndrome def: "This syndrome is characterized by cortical blindness, intellectual deficit, and polydactyly." [Orphanet:1389] subset: gard_rare {source="GARD:0001548"} subset: ordo_malformation_syndrome {source="Orphanet:1389"} synonym: "cortical blindness, retardation, and postaxial polydactyly" RELATED [OMIM:218010] xref: MESH:C565674 {source="MONDO:equivalentTo"} xref: OMIM:218010 {source="Orphanet:1389", source="MONDO:equivalentTo", source="Orphanet:1389/e"} xref: Orphanet:1389 {source="MONDO:equivalentTo", source="OMIM:218010"} xref: UMLS:C1857568 {source="Orphanet:1389", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:218010"} is_a: MONDO:0015159 {source="Orphanet:1389"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015368 {source="MONDO:0020262-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neuro-ophthalmological disease property_value: exactMatch http://identifiers.org/mesh/C565674 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857568 property_value: exactMatch https://omim.org/entry/218010 property_value: exactMatch Orphanet:1389 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1389"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1548/cortical-blindness-intellectual-disability-polydactyly-syndrome xsd:anyURI {source="GARD:0001548"} [Term] id: MONDO:0009025 name: apparent mineralocorticoid excess def: "Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism." [Orphanet:320] subset: gard_rare {source="GARD:0000433"} subset: ordo_disease {source="Orphanet:320"} synonym: "11 Beta-hydroxysteroid dehydrogenase type 2 deficiency" EXACT [NCIT:C131083] synonym: "11-beta-hydroxysteroid dehydrogenase deficiency type 2" EXACT [DOID:0090121, Orphanet:320] synonym: "AME" RELATED ABBREVIATION [MONDO:Lexical, OMIM:218030] synonym: "AME 1" RELATED [GARD:0000433] synonym: "Ame1" RELATED [OMIM:218030] synonym: "APE" EXACT ABBREVIATION [DOID:0090121] synonym: "apparent mineralocorticoid EXCESS" RELATED [OMIM:218030] synonym: "apparent mineralocorticoid excess" EXACT [MONDO:Lexical, OMIM:218030] synonym: "apparent mineralocorticoid excess syndrome" EXACT [MONDO:0006657] synonym: "cortisol 11-Beta-ketoreductase deficiency" RELATED [OMIM:218030] synonym: "cortisol 11-beta-ketoreductase deficiency" EXACT [DOID:0090121] synonym: "syndrome of apparent mineralocorticoid Excess" EXACT [NCIT:C123231] synonym: "Ulick syndrome" EXACT [DOID:0090121, Orphanet:320] xref: DOID:0090121 {source="MONDO:equivalentObsolete"} xref: DOID:4367 {source="EFO:1000817", source="MONDO:equivalentTo"} xref: EFO:1000817 {source="MONDO:equivalentTo"} xref: ICD9:255.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537422 {source="Orphanet:320/e", source="DOID:0090121", source="MONDO:equivalentTo", source="Orphanet:320"} xref: MESH:D043204 {source="DOID:4367", source="Orphanet:320/e", source="EFO:1000817", source="DOID:0090121", source="MONDO:equivalentTo", source="Orphanet:320"} xref: NCIT:C123231 {source="DOID:4367", source="MONDO:equivalentTo"} xref: NCIT:C131083 {source="MONDO:equivalentTo"} xref: OMIM:218030 {source="Orphanet:320/e", source="DOID:0090121", source="MONDO:equivalentTo", source="Orphanet:320"} xref: Orphanet:320 {source="DOID:0090121", source="MONDO:equivalentTo", source="OMIM:218030"} xref: SCTID:237770005 {source="DOID:4367", source="EFO:1000817", source="MONDO:equivalentTo"} xref: SCTID:703256004 {source="MONDO:equivalentTo"} xref: UMLS:C0342488 {source="DOID:4367", source="Orphanet:320/e", source="DOID:0090121", source="MONDO:equivalentTo", source="Orphanet:320"} xref: UMLS:C2936861 {source="Orphanet:320/e", source="MONDO:equivalentObsolete", source="DOID:0090121", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C123231", source="Orphanet:320"} xref: UMLS:C3887949 {source="MONDO:equivalentTo", source="Orphanet:320"} xref: UMLS:CN203981 {source="MONDO:equivalentTo"} is_a: EFO:0005539 {source="MONDO:Entailed", source="Orphanet:320"} ! adrenal gland disease is_a: EFO:0005590 {source="DOID:4367", source="MESH:D043204"} ! steroid inherited metabolic disorder is_a: MONDO:0015905 ! syndromic dyslipidemia property_value: exactMatch DOID:4367 property_value: exactMatch http://identifiers.org/mesh/C537422 property_value: exactMatch http://identifiers.org/mesh/D043204 property_value: exactMatch http://identifiers.org/snomedct/237770005 property_value: exactMatch http://identifiers.org/snomedct/703256004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342488 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3887949 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203981 property_value: exactMatch https://omim.org/entry/218030 property_value: exactMatch NCIT:C123231 property_value: exactMatch NCIT:C131083 property_value: exactMatch Orphanet:320 property_value: excluded_subClassOf MONDO:0006640 {source="DOID:0090121"} property_value: excluded_subClassOf MONDO:0015512 {source="Orphanet:320"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4993 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/433/apparent-mineralocorticoid-excess xsd:anyURI {source="GARD:0000433"} [Term] id: MONDO:0009026 name: Costello syndrome def: "Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." [Orphanet:3071] subset: clingen subset: gard_rare {source="GARD:0001550"} subset: ordo_malformation_syndrome {source="Orphanet:3071"} synonym: "congenital myopathy with excess of muscle spindles" EXACT [OMIM:218040, OMIM:genemap2] synonym: "Costello syndrome" EXACT [MONDO:Lexical, OMIM:218040] synonym: "CSTLO" RELATED ABBREVIATION [MONDO:Lexical, OMIM:218040] synonym: "faciocutaneoskeletal syndrome" EXACT [DOID:0050469, OMIM:218040, Orphanet:3071] synonym: "FCS syndrome" EXACT [DOID:0050469, Orphanet:3071] synonym: "myopathy, congenital, with excess of muscle spindles" RELATED [OMIM:218040] xref: DOID:0050469 {source="MONDO:equivalentTo"} xref: ICD9:799.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10067380 {source="Orphanet:3071", source="Orphanet:3071/e"} xref: MESH:D056685 {source="DOID:0050469", source="MONDO:equivalentTo", source="Orphanet:3071", source="Orphanet:3071/e"} xref: NCIT:C84652 {source="DOID:0050469", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: OMIM:218040 {source="DOID:0050469", source="MONDO:equivalentTo", source="Orphanet:3071", source="Orphanet:3071/e"} xref: Orphanet:3071 {source="MONDO:equivalentTo", source="OMIM:218040"} xref: SCTID:309776008 {source="DOID:0050469", source="MONDO:equivalentTo"} xref: UMLS:C0587248 {source="DOID:0050469", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3071", source="OMIM:218040", source="NCIT:C84652", source="Orphanet:3071/e"} is_a: MONDO:0000426 {source="DOID:0050469", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0015159 {source="Orphanet:3071"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020297 {source="Orphanet:3071"} ! Noonan syndrome and Noonan-related syndrome property_value: closeMatch http://identifiers.org/meddra/10067380 property_value: exactMatch DOID:0050469 property_value: exactMatch http://identifiers.org/mesh/D056685 property_value: exactMatch http://identifiers.org/snomedct/309776008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0587248 property_value: exactMatch https://omim.org/entry/218040 property_value: exactMatch NCIT:C84652 property_value: exactMatch Orphanet:3071 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3071"} property_value: excluded_subClassOf MONDO:0019292 {source="Orphanet:3071", source="Orphanet:3071/inferred"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5682 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1550/costello-syndrome xsd:anyURI {source="GARD:0001550"} [Term] id: MONDO:0009028 name: Crane-Heise syndrome def: "A very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles." [https://orcid.org/0000-0001-5208-3432, Orphanet:1512] subset: gard_rare {source="GARD:0008428"} subset: ordo_malformation_syndrome {source="Orphanet:1512"} synonym: "cleft Lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus" RELATED [OMIM:218090] synonym: "Crane-Heise syndrome" EXACT [OMIM:218090] xref: MESH:C536452 {source="MONDO:equivalentTo", source="Orphanet:1512", source="Orphanet:1512/e"} xref: OMIM:218090 {source="MONDO:equivalentTo", source="Orphanet:1512", source="Orphanet:1512/e"} xref: Orphanet:1512 {source="OMIM:218090", source="MONDO:equivalentTo"} xref: SCTID:715991005 {source="MONDO:equivalentTo"} xref: UMLS:C1857532 {source="OMIM:218090", source="MONDO:equivalentTo", source="Orphanet:1512", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1512/e"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare property_value: exactMatch http://identifiers.org/mesh/C536452 property_value: exactMatch http://identifiers.org/snomedct/715991005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857532 property_value: exactMatch https://omim.org/entry/218090 property_value: exactMatch Orphanet:1512 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1512"} property_value: excluded_subClassOf MONDO:0015159 {source="Orphanet:1512"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8428/crane-heise-syndrome xsd:anyURI {source="GARD:0008428"} [Term] id: MONDO:0009031 name: craniodiaphyseal dysplasia def: "Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity." [Orphanet:1513] subset: gard_rare {source="GARD:0001567"} subset: ordo_malformation_syndrome {source="Orphanet:1513"} synonym: "CDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:122860, OMIM:218300] synonym: "craniodiaphyseal dysplasia" EXACT [MONDO:Lexical, OMIM:218300] synonym: "Lionitis" EXACT [NCIT:C131429] xref: DOID:0080032 {source="MONDO:equivalentTo"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562940 {source="MONDO:equivalentTo"} xref: NCIT:C131429 {source="MONDO:equivalentTo"} xref: OMIM:218300 {source="MONDO:equivalentTo", source="Orphanet:1513", source="Orphanet:1513/btnt"} xref: Orphanet:1513 {source="OMIM:218300", source="MONDO:equivalentTo", source="OMIM:122860"} xref: SCTID:205506004 {source="MONDO:equivalentTo"} xref: UMLS:C0410539 {source="OMIM:218300", source="NCIT:C131429", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1513", source="Orphanet:1513/e"} is_a: MONDO:0002185 {source="NCIT:C131429"} ! hyperostosis is_a: MONDO:0015465 ! craniometaphyseal dysplasia is_a: MONDO:0020018 {source="Orphanet:1513"} ! cranial malformation property_value: exactMatch DOID:0080032 property_value: exactMatch http://identifiers.org/mesh/C562940 property_value: exactMatch http://identifiers.org/snomedct/205506004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0410539 property_value: exactMatch https://omim.org/entry/218300 property_value: exactMatch NCIT:C131429 property_value: exactMatch Orphanet:1513 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1567/craniodiaphyseal-dysplasia xsd:anyURI {source="GARD:0001567"} [Term] id: MONDO:0009032 name: cranioectodermal dysplasia def: "Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." [Orphanet:1515] subset: ordo_malformation_syndrome {source="Orphanet:1515"} synonym: "CED" EXACT ABBREVIATION [Orphanet:1515] synonym: "cranioectodermal dysplasia" EXACT [DOID:0050577] synonym: "Levin syndrome" EXACT [DOID:0050577] synonym: "Sensenbrenner syndrome" EXACT [MONDO:0000362, Orphanet:1515] xref: DOID:0050577 {source="MONDO:equivalentTo"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C129305 {source="MONDO:equivalentTo"} xref: OMIMPS:218330 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:1515 {source="MONDO:equivalentTo", source="OMIM:218330"} xref: SCTID:254093009 {source="MONDO:equivalentTo"} xref: UMLS:C0432235 {source="Orphanet:1515/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C129305", source="Orphanet:1515", source="OMIM:218330"} xref: UMLS:CN016627 {source="MONDO:equivalentTo"} xref: UMLS:CN119432 {source="MONDO:equivalentTo"} is_a: MONDO:0011679 ! craniosynostosis syndrome, autosomal recessive is_a: MONDO:0015338 {source="Orphanet:1515"} ! syndromic craniosynostosis is_a: MONDO:0015461 {source="Orphanet:1515"} ! short rib-polydactyly syndrome is_a: MONDO:0015962 {source="Orphanet:1515"} ! inherited renal tubular disease is_a: MONDO:0019287 {source="Orphanet:1515"} ! ectodermal dysplasia syndrome property_value: exactMatch DOID:0050577 property_value: exactMatch http://identifiers.org/snomedct/254093009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432235 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN016627 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN119432 property_value: exactMatch https://omim.org/phenotypicSeries/PS218330 property_value: exactMatch NCIT:C129305 property_value: exactMatch Orphanet:1515 [Term] id: MONDO:0009033 name: temtamy syndrome def: "Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities." [Orphanet:1777] subset: gard_rare {source="GARD:0005688"} subset: ordo_malformation_syndrome {source="Orphanet:1777"} synonym: "craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation" RELATED [GARD:0005688] synonym: "craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome" EXACT [Orphanet:1777] synonym: "Dysmorphism, corpus callosum agenesis and colobomas" RELATED [GARD:0005688] synonym: "intellectual disability with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum" RELATED [OMIM:218340] synonym: "mental retardation with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum" RELATED DEPRECATED [OMIM:218340] synonym: "TEMTAMY syndrome" RELATED [OMIM:218340] synonym: "temtamy syndrome" EXACT [MONDO:Lexical, OMIM:218340] synonym: "Temtamy-Shalash syndrome" EXACT [Orphanet:1777] synonym: "TEMTYS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:218340] xref: DOID:0111621 {source="MONDO:equivalentTo"} xref: MESH:C536959 {source="MONDO:equivalentTo", source="Orphanet:1777", source="Orphanet:1777/e"} xref: NCIT:C148371 {source="MONDO:equivalentTo"} xref: OMIM:218340 {source="MONDO:equivalentTo", source="Orphanet:1777", source="Orphanet:1777/e"} xref: Orphanet:1777 {source="MONDO:equivalentTo", source="OMIM:218340"} xref: SCTID:719947004 {source="MONDO:equivalentTo"} xref: UMLS:C1857512 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1777", source="OMIM:218340", source="Orphanet:1777/e"} is_a: MONDO:0015159 {source="Orphanet:1777"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch DOID:0111621 property_value: exactMatch http://identifiers.org/mesh/C536959 property_value: exactMatch http://identifiers.org/snomedct/719947004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857512 property_value: exactMatch https://omim.org/entry/218340 property_value: exactMatch NCIT:C148371 property_value: exactMatch Orphanet:1777 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1777"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5688/temtamy-syndrome xsd:anyURI {source="GARD:0005688"} [Term] id: MONDO:0009034 name: craniofacial dyssynostosis def: "Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull and hydrocephalus." [Orphanet:1516] subset: gard_rare {source="GARD:0001575"} subset: ordo_malformation_syndrome {source="Orphanet:1516"} synonym: "bilateral lambdoid and sagittal synostosis" RELATED [OMIM:218350] synonym: "craniofacial dyssynostosis and short stature" RELATED [GARD:0001575] synonym: "craniofacial dyssynostosis with short stature" RELATED [OMIM:218350] synonym: "craniosynostosis-craniofacial dysostosis syndrome" RELATED [GARD:0001575] xref: MESH:C536455 {source="Orphanet:1516/e", source="MONDO:equivalentTo", source="Orphanet:1516"} xref: OMIM:218350 {source="Orphanet:1516/e", source="MONDO:equivalentTo", source="Orphanet:1516"} xref: Orphanet:1516 {source="MONDO:equivalentTo", source="OMIM:218350"} xref: UMLS:C1857511 {source="Orphanet:1516/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1516", source="OMIM:218350"} is_a: MONDO:0020018 {source="Orphanet:1516", source="Orphanet:1516/inferred"} ! cranial malformation relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C536455 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857511 property_value: exactMatch https://omim.org/entry/218350 property_value: exactMatch Orphanet:1516 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1575/craniofacial-dyssynostosis xsd:anyURI {source="GARD:0001575"} [Term] id: MONDO:0009036 name: cardiocranial syndrome, Pfeiffer type def: "Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit)." [Orphanet:2872] subset: ordo_malformation_syndrome {source="Orphanet:2872"} synonym: "Cardiocranial syndrome" RELATED [GARD:0008586] synonym: "craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis" RELATED [OMIM:218450] synonym: "craniosynostosis-congenital heart disease-intellectual disability syndrome" EXACT [Orphanet:2872] synonym: "Pfeiffer Cardiocranial syndrome" RELATED [OMIM:218450] synonym: "Pfeiffer Singer Zschiesche syndrome" RELATED [GARD:0008586] synonym: "Pfeiffer-Singer-Zschiesche syndrome" EXACT [Orphanet:2872] synonym: "Pfeiffer-type cardiocranial syndrome" RELATED [GARD:0008586] synonym: "sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis" EXACT [Orphanet:2872] xref: MESH:C535578 {source="MONDO:equivalentTo"} xref: OMIM:218450 {source="Orphanet:2872", source="MONDO:equivalentTo", source="Orphanet:2872/e"} xref: Orphanet:2872 {source="MONDO:equivalentTo", source="OMIM:218450"} xref: SCTID:720606005 {source="MONDO:equivalentTo"} xref: UMLS:C1857495 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:218450"} is_a: MONDO:0015159 {source="Orphanet:2872"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015338 {source="Orphanet:2872"} ! syndromic craniosynostosis property_value: exactMatch http://identifiers.org/mesh/C535578 property_value: exactMatch http://identifiers.org/snomedct/720606005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857495 property_value: exactMatch https://omim.org/entry/218450 property_value: exactMatch Orphanet:2872 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2872"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0009038 name: craniosynostosis-fibular aplasia syndrome def: "Craniosynostosis-fibular aplasia is an extremely rare genetic disease, reported in only 2 brothers to date, characterized by the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal and an autosomal recessive mode of inheritance has been proposed. There have been no further reports in the literature since 1972." [Orphanet:1533] subset: ordo_malformation_syndrome {source="Orphanet:1533"} synonym: "craniosynostosis with fibular aplasia" RELATED [OMIM:218550] synonym: "Lowry syndrome" EXACT [Orphanet:1533] xref: MESH:C565665 {source="MONDO:equivalentTo"} xref: OMIM:218550 {source="MONDO:equivalentTo", source="Orphanet:1533", source="Orphanet:1533/e"} xref: Orphanet:1533 {source="MONDO:equivalentObsolete", source="OMIM:218550"} xref: SCTID:732250002 {source="MONDO:equivalentTo"} xref: UMLS:C1857492 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1533", source="OMIM:218550"} is_a: MONDO:0015338 {source="Orphanet:1533"} ! syndromic craniosynostosis property_value: exactMatch http://identifiers.org/mesh/C565665 property_value: exactMatch http://identifiers.org/snomedct/732250002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857492 property_value: exactMatch https://omim.org/entry/218550 [Term] id: MONDO:0009039 name: Baller-Gerold syndrome def: "Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius)." [Orphanet:1225] subset: gard_rare {source="GARD:0001602"} subset: ordo_malformation_syndrome {source="Orphanet:1225"} synonym: "BALLER-Gerold syndrome" RELATED [OMIM:218600] synonym: "Baller-Gerold syndrome" EXACT [MONDO:Lexical, OMIM:218600] synonym: "BGS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:218600] synonym: "craniosynostosis with radial defects" RELATED [OMIM:218600] synonym: "craniosynostosis-radial aplasia syndrome" RELATED [OMIM:218600] xref: DOID:0050654 {source="MONDO:equivalentTo"} xref: MESH:C536788 {source="DOID:0050654", source="MONDO:equivalentTo", source="Orphanet:1225", source="Orphanet:1225/e"} xref: OMIM:218600 {source="DOID:0050654", source="MONDO:equivalentTo", source="Orphanet:1225", source="Orphanet:1225/e"} xref: Orphanet:1225 {source="OMIM:218600", source="MONDO:equivalentTo"} xref: SCTID:77608001 {source="DOID:0050654", source="MONDO:equivalentTo"} xref: UMLS:C0265308 {source="DOID:0050654", source="OMIM:218600", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1225", source="Orphanet:1225/e"} is_a: MONDO:0015246 {source="Orphanet:1225"} ! syndromic anorectal malformation is_a: MONDO:0015338 {source="Orphanet:1225", source="PMID:31633310"} ! syndromic craniosynostosis property_value: exactMatch DOID:0050654 property_value: exactMatch http://identifiers.org/mesh/C536788 property_value: exactMatch http://identifiers.org/snomedct/77608001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265308 property_value: exactMatch https://omim.org/entry/218600 property_value: exactMatch Orphanet:1225 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1602/baller-gerold-syndrome xsd:anyURI {source="GARD:0001602"} [Term] id: MONDO:0009042 name: craniotelencephalic dysplasia def: "Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983." [Orphanet:1528] subset: gard_rare {source="GARD:0001605"} subset: ordo_malformation_syndrome {source="Orphanet:1528"} synonym: "Complex of anomalies involving the cranium and brain" RELATED [GARD:0001605] synonym: "craniotelencephalic dysplasia" EXACT [OMIM:218670] xref: MESH:C535597 {source="Orphanet:1528/e", source="MONDO:equivalentTo", source="Orphanet:1528"} xref: OMIM:218670 {source="Orphanet:1528/e", source="MONDO:equivalentTo", source="Orphanet:1528"} xref: Orphanet:1528 {source="MONDO:equivalentTo", source="OMIM:218670"} xref: SCTID:715422002 {source="MONDO:equivalentTo"} xref: UMLS:C1857471 {source="Orphanet:1528/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:218670", source="Orphanet:1528"} is_a: MONDO:0015338 {source="Orphanet:1528"} ! syndromic craniosynostosis is_a: MONDO:0018838 {source="MONDO:0015147-obsoleted"} ! lissencephaly spectrum disorders property_value: exactMatch http://identifiers.org/mesh/C535597 property_value: exactMatch http://identifiers.org/snomedct/715422002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857471 property_value: exactMatch https://omim.org/entry/218670 property_value: exactMatch Orphanet:1528 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1605/craniotelencephalic-dysplasia xsd:anyURI {source="GARD:0001605"} [Term] id: MONDO:0009043 name: generalized resistance to thyroid hormone def: "A thyroid hormone resistance syndrome characterized by resistance in the pituitary gland and in most or all of the peripheral tissues." [MONDO:cjm, PMID:8475937] subset: ordo_disease {source="Orphanet:3221"} synonym: "deafness-thyroid hormone resistance syndrome" NARROW [Orphanet:3221] synonym: "GRTH" EXACT ABBREVIATION [PMID:8475937] synonym: "Refetoff syndrome" EXACT [Orphanet:3221] xref: Orphanet:3221 {source="MONDO:equivalentObsolete"} is_a: EFO:0009189 {source="Orphanet:3221"} ! hyperthyroidism is_a: MONDO:0001328 {source="MONDO:cjm", source="PMID:8475937"} ! thyroid hormone resistance syndrome relationship: has_characteristic MONDO:0021136 {source="MONDO:0015894"} ! rare [Term] id: MONDO:0009044 name: Crigler-Najjar syndrome def: "Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2. CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2." [Orphanet:205] subset: ordo_disease {source="Orphanet:205"} synonym: "bilirubin UDP glucuronyl transferase deficiency" EXACT [DOID:3803] synonym: "bilirubin uridinediphosphate glucuronosyltransferase deficiency" EXACT [Orphanet:205] synonym: "bilirubin-UGT deficiency" EXACT [Orphanet:205] synonym: "Crigler Najjar syndrome" EXACT [DOID:3803] synonym: "Crigler-Najjar syndrome" EXACT [OMIM:218800] synonym: "hereditary unconjugated hyperbilirubinemia" EXACT [Orphanet:205] synonym: "UGT deficiency" EXACT [Orphanet:205] xref: DOID:3803 {source="MONDO:equivalentTo"} xref: ICD10CM:E80.5 {source="MONDO:equivalentTo", source="Orphanet:205/e", source="Orphanet:205/specific"} xref: MedDRA:10011386 {source="Orphanet:205", source="Orphanet:205/e"} xref: MESH:D003414 {source="Orphanet:205", source="MONDO:equivalentTo", source="Orphanet:205/e", source="DOID:3803"} xref: NCIT:C84656 {source="MONDO:equivalentTo", source="DOID:3803"} xref: Orphanet:205 {source="MONDO:equivalentTo", source="OMIM:218800"} xref: SCTID:28259009 {source="MONDO:equivalentTo", source="DOID:3803"} xref: UMLS:C0010324 {source="NCIT:C84656", source="Orphanet:205", source="MONDO:equivalentTo", source="OMIM:218800", source="Orphanet:205/e", source="DOID:3803", source="Orphanet:79234"} xref: UMLS:CN119421 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="NCIT:C84656"} ! syndromic disease is_a: MONDO:0002408 {source="DC-OMIM:218800", source="DOID:3803", source="MESH:D003414", source="NCIT:C84656"} ! hereditary hyperbilirubinemia relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare property_value: closeMatch http://identifiers.org/meddra/10011386 property_value: exactMatch DOID:3803 property_value: exactMatch http://identifiers.org/mesh/D003414 property_value: exactMatch http://identifiers.org/snomedct/28259009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010324 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN119421 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E80.5 property_value: exactMatch NCIT:C84656 property_value: exactMatch Orphanet:205 [Term] id: MONDO:0009045 name: cataract-nephropathy-encephalopathy syndrome def: "Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963." [Orphanet:1380] subset: ordo_malformation_syndrome {source="Orphanet:1380"} synonym: "congenital cataracts, renal tubular necrosis and encephalopathy in two sisters" RELATED [GARD:0001614] synonym: "crome syndrome" EXACT [OMIM:218900, Orphanet:1380] xref: MESH:C536216 {source="MONDO:equivalentTo"} xref: OMIM:218900 {source="Orphanet:1380/e", source="MONDO:equivalentTo", source="Orphanet:1380"} xref: Orphanet:1380 {source="MONDO:equivalentTo", source="OMIM:218900"} xref: SCTID:722381004 {source="MONDO:equivalentTo"} xref: UMLS:C0795914 {source="Orphanet:1380/e", source="MONDO:equivalentTo", source="OMIM:218900", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1380"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: exactMatch http://identifiers.org/mesh/C536216 property_value: exactMatch http://identifiers.org/snomedct/722381004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795914 property_value: exactMatch https://omim.org/entry/218900 property_value: exactMatch Orphanet:1380 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:1380"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0009046 name: Fraser syndrome def: "Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly." [Orphanet:2052] subset: gard_rare {source="GARD:0006465"} subset: ordo_malformation_syndrome {source="Orphanet:2052"} subset: prototype_pattern synonym: "cryptophthalmos syndrome" RELATED [GARD:0006465] synonym: "cryptophthalmos with Other malformations" RELATED [OMIM:219000] synonym: "cryptophthalmos with other malformations" EXACT [DOID:0090001] synonym: "cryptophthalmos-syndactyly syndrome" EXACT [OMIM:219000, Orphanet:2052] synonym: "cyclopism" RELATED [GARD:0006465] synonym: "Fraser syndrome" EXACT [OMIM:219000] synonym: "Fraser-Francois syndrome" RELATED [GARD:0006465] synonym: "Meyer-Schwickerath's syndrome" RELATED [GARD:0006465] synonym: "Ulrich-Feichtiger syndrome" RELATED [GARD:0006465] xref: DOID:0090001 {source="MONDO:equivalentTo"} xref: MESH:D058497 {source="Orphanet:2052/e", source="MONDO:equivalentTo", source="Orphanet:2052"} xref: NCIT:C118436 {source="MONDO:equivalentTo"} xref: OMIMPS:219000 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:2052 {source="DOID:0090001", source="MONDO:equivalentTo", source="OMIM:219000"} xref: SCTID:204102004 {source="MONDO:equivalentTo"} xref: UMLS:C0265233 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:219000", source="Orphanet:2052"} is_a: EFO:1000017 {source="DOID:0090001", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015161 {source="Orphanet:2052"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015246 {source="Orphanet:2052"} ! syndromic anorectal malformation is_a: MONDO:0020153 {source="Orphanet:2052"} ! cryptophthalmia property_value: exactMatch DOID:0090001 property_value: exactMatch http://identifiers.org/mesh/D058497 property_value: exactMatch http://identifiers.org/snomedct/204102004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265233 property_value: exactMatch https://omim.org/phenotypicSeries/PS219000 property_value: exactMatch NCIT:C118436 property_value: exactMatch Orphanet:2052 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6465/fraser-syndrome xsd:anyURI {source="GARD:0006465"} [Term] id: MONDO:0009053 name: ALDH18A1-related de Barsy syndrome def: "ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity." [Orphanet:35664] subset: ordo_etiological_subtype {source="Orphanet:35664"} synonym: "ARCL3A" EXACT ABBREVIATION [DOID:0070132, MONDO:Lexical, OMIM:219150] synonym: "autosomal recessive cutis laxa type IIIA" RELATED [DOID:0070132] synonym: "cutis laxa, autosomal recessive, type 3A" RELATED [OMIM:219150] synonym: "cutis laxa, autosomal recessive, type IIIA" RELATED [MONDO:Lexical, OMIM:219150] synonym: "cutis laxa, corneal clouding, and intellectual disability" RELATED [OMIM:219150] synonym: "cutis laxa, corneal clouding, and mental retardation" RELATED DEPRECATED [OMIM:219150] synonym: "De Barsy syndrome A" EXACT [DOID:0070132] synonym: "De Barsy syndrome a" RELATED [OMIM:219150] synonym: "Delta-1-pyrroline 5-carboxylate synthetase deficiency" EXACT [Orphanet:35664] synonym: "neurocutaneous syndrome, Bicknell type" EXACT [Orphanet:35664] synonym: "P5CS deficiency" BROAD [Orphanet:35664] synonym: "progeroid syndrome of De Barsy" RELATED [OMIM:219150] xref: DOID:0070132 {source="MONDO:equivalentTo"} xref: ICD9:371.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:219150 {source="DOID:0070132", source="Orphanet:35664/e", source="MONDO:equivalentTo", source="Orphanet:35664"} xref: Orphanet:35664 {source="DOID:0070132", source="MONDO:equivalentTo", source="OMIM:219150"} xref: SCTID:59252009 {source="MONDO:equivalentTo"} is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0017569 {source="DOID:0070132", source="Orphanet:35664"} ! de Barsy syndrome is_a: MONDO:0100126 {source="PMID:32017139", source="https://github.com/monarch-initiative/mondo/issues/1444"} ! P5CS deficiency is_a: MONDO:0100237 {source="DOID:0070132/inferred", source="MONDO:Redundant", source="OMIM:219150", source="Orphanet:35664/inferred"} ! inherited cutis laxa property_value: exactMatch DOID:0070132 property_value: exactMatch http://identifiers.org/snomedct/59252009 property_value: exactMatch https://omim.org/entry/219150 property_value: exactMatch Orphanet:35664 [Term] id: MONDO:0009054 name: autosomal recessive cutis laxa type 2, classic type subset: ordo_clinical_subtype {source="Orphanet:357074"} synonym: "ADCL2" RELATED ABBREVIATION [DOID:0070136] synonym: "Arcl2" RELATED [OMIM:219200] synonym: "ARCL2, classic type" EXACT [DOID:0070141, Orphanet:357074] synonym: "ARCL2, Debre type" EXACT [DOID:0070141, Orphanet:357074] synonym: "ARCL2, Debré type" EXACT [Orphanet:357074] synonym: "ARCL2A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:219200] synonym: "autosomal recessive cutis laxa type 2, Debre type" EXACT [Orphanet:357074] synonym: "autosomal recessive cutis laxa type 2, Debré type" EXACT [Orphanet:357074] synonym: "autosomal recessive cutis laxa type II classic type" RELATED [DOID:0070141] xref: DOID:0070136 {source="MONDO:relatedTo"} xref: DOID:0070141 {source="MONDO:equivalentTo"} xref: MESH:C562632 {source="MONDO:equivalentTo"} xref: Orphanet:357074 {source="DOID:0070141", source="MONDO:equivalentTo", source="OMIM:219200"} xref: SCTID:73856006 {source="MONDO:equivalentTo"} xref: UMLS:CN204606 {source="MONDO:equivalentTo"} is_a: MONDO:0100237 {source="DOID:0070136/inferred", source="DOID:0070141", source="MESH:C562632", source="OMIM:219200", source="Orphanet:357074/inferred"} ! inherited cutis laxa property_value: exactMatch DOID:0070141 property_value: exactMatch http://identifiers.org/mesh/C562632 property_value: exactMatch http://identifiers.org/snomedct/73856006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204606 property_value: exactMatch Orphanet:357074 property_value: excluded_subClassOf MONDO:0018163 {source="Orphanet:357074"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5048 xsd:anyURI [Term] id: MONDO:0009058 name: cystathioninuria def: "Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases." [Orphanet:212] subset: mostly_harmless {source="PMID:29884839"} subset: ordo_disease {source="Orphanet:212"} synonym: "cystathionase deficiency" EXACT [DOID:0090142, OMIM:219500, Orphanet:212] synonym: "Cystathione gamma-lyase deficiency syndrome" EXACT [Orphanet:212] synonym: "cystathione gamma-lyase deficiency syndrome" EXACT [DOID:0090142] synonym: "cystathioninuria" EXACT [MONDO:ambiguous, OMIM:219500] synonym: "cystathioninuria (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "gamma-cystathionase deficiency" EXACT [DOID:0090142, Orphanet:212] xref: DOID:0090142 {source="MONDO:equivalentTo"} xref: HP:0003153 {source="MONDO:otherHierarchy"} xref: NCIT:C129070 {source="MONDO:equivalentTo"} xref: OMIM:219500 {source="DOID:0090142", source="Orphanet:212/e", source="MONDO:equivalentTo", source="Orphanet:212"} xref: Orphanet:212 {source="DOID:0090142", source="OMIM:219500", source="MONDO:equivalentTo"} xref: SCTID:13003007 {source="MONDO:equivalentTo"} xref: UMLS:C0220993 {source="DOID:0090142", source="OMIM:219500", source="Orphanet:212/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C129070", source="Orphanet:212"} xref: UMLS:C0268616 {source="DOID:0090142", source="Orphanet:212/e", source="MONDO:equivalentTo", source="Orphanet:212"} xref: UMLS:C3495552 {source="OMIM:219500", source="MONDO:equivalentTo"} is_a: MONDO:0004736 {source="DOID:0090142", source="MONDO:indirect"} ! inborn disorder of amino acid metabolism is_a: MONDO:0019222 {source="Orphanet:212"} ! inborn disorder of methionine cycle and sulfur amino acid metabolism property_value: exactMatch DOID:0090142 property_value: exactMatch http://identifiers.org/snomedct/13003007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220993 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268616 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3495552 property_value: exactMatch https://omim.org/entry/219500 property_value: exactMatch NCIT:C129070 property_value: exactMatch Orphanet:212 property_value: IAO:0000589 "cystathioninuria (disease)" xsd:string [Term] id: MONDO:0009061 name: cystic fibrosis def: "Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity." [Orphanet:586, Wikipedia:Cystic_fibrosis] subset: gard_rare {source="GARD:0006233"} subset: ordo_disease {source="Orphanet:586"} synonym: "CF" EXACT ABBREVIATION [DOID:1485, MONDO:Lexical, OMIM:219700, Orphanet:586] synonym: "cystic fibrosis" EXACT [MONDO:Lexical, OMIM:219700] synonym: "cystic fibrosis lung disease, modifier of" EXACT [OMIM:219700, OMIM:genemap2] synonym: "mucoviscidosis" EXACT [DOID:1485, OMIM:219700, Orphanet:586] synonym: "pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis" EXACT [OMIM:219700, OMIM:genemap2] xref: DOID:1485 {source="MONDO:equivalentTo"} xref: ICD10CM:E84 {source="DOID:1485", source="MONDO:equivalentTo"} xref: ICD9:277.0 {source="DOID:1485"} xref: MedDRA:10011762 {source="Orphanet:586/e", source="Orphanet:586"} xref: MESH:D003550 {source="DOID:1485", source="Orphanet:586/e", source="MONDO:equivalentTo", source="Orphanet:586"} xref: NCIT:C2975 {source="DOID:1485", source="MONDO:equivalentTo"} xref: OMIM:219700 {source="DOID:1485", source="Orphanet:586/e", source="MONDO:equivalentTo", source="Orphanet:586"} xref: Orphanet:586 {source="OMIM:219700", source="MONDO:equivalentTo"} xref: SCTID:190905008 {source="DOID:1485", source="MONDO:equivalentTo"} xref: UMLS:C0010674 {source="DOID:1485", source="Orphanet:586/e", source="OMIM:219700", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C2975", source="Orphanet:586"} is_a: EFO:0000684 {source="Orphanet:586"} ! respiratory system disease is_a: EFO:1000017 {source="DOID:1485", source="MONDO:Redundant"} ! autosomal recessive disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015112", source="MONDO:0015510", source="MONDO:0015618"} ! rare property_value: closeMatch http://identifiers.org/meddra/10011762 property_value: exactMatch DOID:1485 property_value: exactMatch http://identifiers.org/mesh/D003550 property_value: exactMatch http://identifiers.org/snomedct/190905008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010674 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E84 property_value: exactMatch https://omim.org/entry/219700 property_value: exactMatch NCIT:C2975 property_value: exactMatch Orphanet:586 property_value: excluded_subClassOf MONDO:0002356 {source="MONDO:Redundant", source="Orphanet:586"} property_value: excluded_subClassOf MONDO:0015509 {source="Orphanet:586"} property_value: excluded_subClassOf MONDO:0018396 {source="Orphanet:586"} property_value: excluded_subClassOf MONDO:0018409 {source="Orphanet:586"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6233/cystic-fibrosis xsd:anyURI {source="GARD:0006233"} [Term] id: MONDO:0009062 name: cystic fibrosis-gastritis-megaloblastic anemia syndrome def: "A rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991." [Orphanet:2575] subset: ordo_disease {source="Orphanet:2575"} synonym: "cystic fibrosis gastritis megaloblastic anaemia" RELATED OMO:0003005 [] synonym: "cystic fibrosis gastritis megaloblastic anemia" RELATED [GARD:0003303] synonym: "cystic fibrosis with Helicobacter pylori gastritis, megaloblastic anemia, and intellectual disability" RELATED [OMIM:219721] synonym: "cystic fibrosis with Helicobacter pylori gastritis, megaloblastic anemia, and mental retardation" RELATED DEPRECATED [OMIM:219721] synonym: "cystic fibrosis, Helicobacter pylori gastritis, megaloblastic anemia, subnormal mentality and minor anomalies" RELATED [GARD:0003303] synonym: "Lubani Al Saleh Teebi syndrome" RELATED [GARD:0003303] synonym: "Lubani-Al Saleh-Teebi syndrome" EXACT [Orphanet:2575] xref: MESH:C537039 {source="MONDO:equivalentTo"} xref: OMIM:219721 {source="Orphanet:2575", source="MONDO:equivalentTo", source="Orphanet:2575/e"} xref: Orphanet:2575 {source="OMIM:219721", source="MONDO:equivalentTo"} xref: SCTID:720401009 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: MONDO:0015617 {source="Orphanet:2575"} ! hereditary gastro-esophageal disease property_value: exactMatch http://identifiers.org/mesh/C537039 property_value: exactMatch http://identifiers.org/snomedct/720401009 property_value: exactMatch https://omim.org/entry/219721 property_value: exactMatch Orphanet:2575 property_value: excluded_subClassOf MONDO:0015111 {source="Orphanet:2575"} [Term] id: MONDO:0009063 name: ventriculomegaly-cystic kidney disease subset: ordo_disease {source="Orphanet:443988"} synonym: "congenital nephrosis-cerebral ventriculomegaly syndrome" EXACT [Orphanet:443988] synonym: "ventriculomegaly with cystic kidney disease" RELATED [MONDO:Lexical, OMIM:219730] synonym: "VMCKD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:219730, Orphanet:443988] xref: DOID:0111625 {source="MONDO:equivalentTo"} xref: OMIM:219730 {source="MONDO:equivalentTo", source="Orphanet:443988", source="Orphanet:443988/e"} xref: Orphanet:443988 {source="MONDO:equivalentTo"} xref: UMLS:C1857423 {source="OMIM:219730", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:443988"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch DOID:0111625 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857423 property_value: exactMatch https://omim.org/entry/219730 property_value: exactMatch Orphanet:443988 property_value: excluded_subClassOf MONDO:0019741 {source="Orphanet:443988"} [Term] id: MONDO:0009064 name: ocular cystinosis def: "Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations." [Orphanet:411641] subset: ordo_clinical_subtype {source="Orphanet:411641"} synonym: "adult-onset cystinosis" EXACT [Orphanet:411641] synonym: "cystinosis, ADULT NONNEPHROPATHIC" RELATED [OMIM:219750] synonym: "cystinosis, benign Nonnephropathic" RELATED [OMIM:219750] synonym: "cystinosis, ocular Nonnephropathic" RELATED [OMIM:219750] synonym: "non-nephropathic cystinosis" EXACT [Orphanet:411641] synonym: "ocular cystinosis" EXACT [] xref: MESH:C535765 {source="MONDO:equivalentTo"} xref: OMIM:219750 {source="Orphanet:411641", source="MONDO:equivalentTo", source="Orphanet:411641/e"} xref: Orphanet:411641 {source="MONDO:equivalentTo", source="OMIM:219750"} xref: UMLS:C2931013 {source="Orphanet:411641", source="MONDO:equivalentTo", source="OMIM:219750"} is_a: EFO:0003966 ! eye disease is_a: MONDO:0016239 {source="MESH:C535765", source="Orphanet:411641"} ! cystinosis is_a: MONDO:0019216 {source="PMID:33340416"} ! inborn disorder of amino acid transport relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch http://identifiers.org/mesh/C535765 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931013 property_value: exactMatch https://omim.org/entry/219750 property_value: exactMatch Orphanet:411641 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0009067 name: cystinuria def: "Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones." [Orphanet:214] subset: gard_rare subset: ordo_disease {source="Orphanet:214"} synonym: "CSNU" RELATED ABBREVIATION [GARD:0006237, OMIM:220100] synonym: "cystinuria" EXACT [MONDO:ambiguous, OMIM:220100] synonym: "cystinuria (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "cystinuria, type a" RELATED [OMIM:220100] synonym: "cystinuria, type A/B" RELATED [OMIM:220100] synonym: "cystinuria, type B" RELATED [OMIM:220100] synonym: "cystinuria, type I" RELATED [OMIM:220100] synonym: "cystinuria, type I, formerly" RELATED [OMIM:220100] synonym: "cystinuria, type II" RELATED [OMIM:220100] synonym: "cystinuria, type II, formerly" RELATED [OMIM:220100] synonym: "cystinuria, type III" RELATED [OMIM:220100] synonym: "cystinuria, type III, formerly" RELATED [OMIM:220100] synonym: "cystinuria, type non-I" RELATED [OMIM:220100] synonym: "cystinuria, type non-I, formerly" RELATED [OMIM:220100] synonym: "cystinuria-lysinuria" RELATED [GARD:0006237] synonym: "cystinuria-lysinuria syndrome" EXACT [Orphanet:214] xref: DOID:9266 {source="MONDO:equivalentTo"} xref: HP:0003131 {source="MONDO:otherHierarchy"} xref: MedDRA:10011778 {source="Orphanet:214", source="Orphanet:214/e"} xref: MESH:D003555 {source="Orphanet:214", source="MONDO:equivalentTo", source="Orphanet:214/e", source="DOID:9266"} xref: NCIT:C84664 {source="MONDO:equivalentTo", source="DOID:9266"} xref: OMIM:220100 {source="GARD:0006237", source="Orphanet:214", source="MONDO:equivalentTo", source="Orphanet:214/e", source="DOID:9266"} xref: Orphanet:214 {source="GARD:0006237", source="MONDO:equivalentTo", source="OMIM:220100"} xref: SCTID:85020001 {source="MONDO:equivalentTo", source="DOID:9266"} xref: UMLS:C0010691 {source="GARD:0006237", source="Orphanet:214", source="MONDO:equivalentTo", source="Orphanet:214/e", source="MONDO:ncbi_mim2gene_medline", source="OMIM:220100", source="DOID:9266", source="NCIT:C84664"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease is_a: MONDO:0015962 {source="Orphanet:214"} ! inherited renal tubular disease is_a: MONDO:0019216 {source="Orphanet:214", source="PMID:33340416"} ! inborn disorder of amino acid transport property_value: closeMatch http://identifiers.org/meddra/10011778 property_value: exactMatch DOID:9266 property_value: exactMatch http://identifiers.org/mesh/D003555 property_value: exactMatch http://identifiers.org/snomedct/85020001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010691 property_value: exactMatch https://omim.org/entry/220100 property_value: exactMatch NCIT:C84664 property_value: exactMatch Orphanet:214 property_value: IAO:0000589 "cystinuria (disease)" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6237/cystinuria xsd:anyURI {source="GARD:0006237"} [Term] id: MONDO:0009068 name: cytochrome-c oxidase deficiency disease def: "A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis." [NCIT:P378] subset: gard_rare subset: ordo_disease {source="Orphanet:254905"} synonym: "Complex 4 mitochondrial respiratory chain deficiency" RELATED [GARD:0000048] synonym: "Complex IV deficiency" RELATED [GARD:0000048] synonym: "COX deficiency" RELATED [GARD:0000048] synonym: "Cox deficiency" RELATED [OMIM:220110] synonym: "cytochrome C oxidase deficiency" RELATED [OMIM:220110] synonym: "cytochrome-C oxidase deficiency" EXACT [NCIT:C98910] synonym: "cytochrome-c oxidase deficiency disease" EXACT [] synonym: "deficiency of mitochondrial respiratory chain complex4" RELATED [GARD:0000048] synonym: "isolated COX deficiency" EXACT [Orphanet:254905] synonym: "isolated cytochrome C oxidase deficiency" RELATED [Orphanet:254905] synonym: "isolated mitochondrial respiratory chain complex IV deficiency" EXACT [Orphanet:254905] synonym: "mitochondrial Complex 4 deficiency" RELATED [OMIM:220110] synonym: "mitochondrial complex IV deficiency" EXACT [DOID:3762, GARD:0000048, OMIM:220110] synonym: "mitochondrial complex IV deficiency, nuclear type 1" EXACT [OMIM:220110, OMIM:genemap2] xref: DOID:3762 {source="MONDO:equivalentTo"} xref: MESH:D030401 {source="DOID:3762", source="MONDO:equivalentTo"} xref: NCIT:C98910 {source="DOID:3762", source="MONDO:equivalentTo"} xref: OMIM:220110 {source="DOID:3762", source="GARD:0000048", source="Orphanet:254905/e", source="MONDO:equivalentTo", source="Orphanet:254905"} xref: Orphanet:254905 {source="MONDO:equivalentTo", source="OMIM:220110"} xref: SCTID:67434000 {source="DOID:3762", source="MONDO:equivalentTo"} xref: UMLS:C0268237 {source="DOID:3762", source="GARD:0000048", source="MONDO:equivalentTo", source="OMIM:220110", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C98910", source="Orphanet:254905"} is_a: MONDO:0000066 {source="DC-OMIM:220110"} ! mitochondrial complex deficiency is_a: MONDO:0016805 {source="Orphanet:254905", source="https://orcid.org/0000-0001-5208-3432"} ! isolated oxidative phosphorylation complex disorder property_value: exactMatch DOID:3762 property_value: exactMatch http://identifiers.org/mesh/D030401 property_value: exactMatch http://identifiers.org/snomedct/67434000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268237 property_value: exactMatch https://omim.org/entry/220110 property_value: exactMatch NCIT:C98910 property_value: exactMatch Orphanet:254905 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009069 name: congenital lactic acidosis, Saguenay-Lac-Saint-Jean type def: "Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." [Orphanet:70472] subset: ordo_disease {source="Orphanet:70472"} synonym: "congenital lactic acidosis, Saguenay-Lac-Saint-Jean type" EXACT [] synonym: "Cox deficiency, French Canadian type" RELATED [OMIM:220111] synonym: "COX deficiency, French-Canadian type" EXACT [Orphanet:70472] synonym: "Cox deficiency, Saguenay Lac saint Jean type" RELATED [GARD:0008370] synonym: "Cox deficiency, Saguenay-Lac-Saint-Jean type" RELATED [OMIM:220111] synonym: "cytochrome C oxidase deficiency, French Canadian type" RELATED [OMIM:220111] synonym: "cytochrome C oxidase deficiency, French-Canadian type" EXACT [Orphanet:70472] synonym: "cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type" EXACT [Orphanet:70472] synonym: "Leigh syndrome, French Canadian type" RELATED [MONDO:Lexical, OMIM:220111] synonym: "Leigh syndrome, French-Canadian type" EXACT [Orphanet:70472] synonym: "Leigh syndrome, Saguenay Lac saint Jean type" RELATED [GARD:0008370] synonym: "Leigh syndrome, Saguenay-Lac-Saint-Jean type" EXACT [OMIM:220111, Orphanet:70472] synonym: "LSFC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:220111] synonym: "mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)" EXACT [OMIM:220111, OMIM:genemap2] synonym: "SLSJ-COX deficiency" EXACT [Orphanet:70472] xref: DOID:0111180 {source="MONDO:equivalentTo"} xref: MESH:C537004 {source="MONDO:equivalentTo"} xref: OMIM:220111 {source="Orphanet:70472", source="MONDO:equivalentTo", source="Orphanet:70472/e"} xref: Orphanet:70472 {source="MONDO:equivalentTo", source="OMIM:220111"} xref: SCTID:718219002 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0009723 {source="DC-OMIM:220111", source="MESH:C537004", source="Orphanet:70472"} ! Leigh syndrome property_value: exactMatch DOID:0111180 property_value: exactMatch http://identifiers.org/mesh/C537004 property_value: exactMatch http://identifiers.org/snomedct/718219002 property_value: exactMatch https://omim.org/entry/220111 property_value: exactMatch Orphanet:70472 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009070 name: D-glyceric aciduria def: "A metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21." [Orphanet:941] subset: ordo_disease {source="Orphanet:941"} synonym: "D-glycerate kinase deficiency" EXACT [Orphanet:941] synonym: "D-glyceric acidemia" EXACT [OMIM:220120, Orphanet:941] synonym: "d-glyceric aciduria" EXACT [OMIM:220120] synonym: "D-glycericacidemia" RELATED [GARD:0000234] synonym: "glycerate kinase deficiency" RELATED [OMIM:220120] synonym: "non ketotic hyperglycinemia syndrome" RELATED [GARD:0000234] xref: DOID:0111626 {source="MONDO:equivalentTo"} xref: MESH:C535767 {source="Orphanet:941", source="MONDO:equivalentTo", source="Orphanet:941/e"} xref: NCIT:C128804 {source="MONDO:equivalentTo"} xref: OMIM:220120 {source="Orphanet:941", source="MONDO:equivalentTo", source="Orphanet:941/e"} xref: Orphanet:941 {source="MONDO:equivalentTo", source="OMIM:220120"} xref: SCTID:237980004 {source="MONDO:equivalentTo"} xref: UMLS:C0342765 {source="MONDO:equivalentTo", source="OMIM:220120", source="NCIT:C128804"} xref: UMLS:C1291386 {source="Orphanet:941", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:220120", source="Orphanet:941/e"} is_a: MONDO:0800152 {source="PMID:33340416"} ! disorder of galactose and fructose metabolism property_value: exactMatch DOID:0111626 property_value: exactMatch http://identifiers.org/mesh/C535767 property_value: exactMatch http://identifiers.org/snomedct/237980004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342765 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1291386 property_value: exactMatch https://omim.org/entry/220120 property_value: exactMatch NCIT:C128804 property_value: exactMatch Orphanet:941 property_value: excluded_subClassOf MONDO:0017703 {source="Orphanet:941"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0009071 name: hereditary renal hypouricemia def: "Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF)." [Orphanet:94088] subset: ordo_malformation_syndrome {source="Orphanet:94088"} synonym: "Dalmatian hypouricemia" RELATED [OMIM:220150] synonym: "hypouricemia, renal" RELATED [GARD:0009496] synonym: "renal hypouricemia" RELATED [OMIM:220150] xref: ICD9:790.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537757 {source="MONDO:equivalentTo"} xref: Orphanet:94088 {source="OMIM:220150", source="MONDO:equivalentTo"} xref: SCTID:236478009 {source="MONDO:equivalentTo"} is_a: MONDO:0015962 {source="Orphanet:94088"} ! inherited renal tubular disease property_value: exactMatch http://identifiers.org/mesh/C537757 property_value: exactMatch http://identifiers.org/snomedct/236478009 property_value: exactMatch Orphanet:94088 [Term] id: MONDO:0009074 name: facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome def: "Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is characterized by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive." [Orphanet:1970] subset: ordo_malformation_syndrome {source="Orphanet:1970"} synonym: "Dandy-Walker malformation with intellectual disability, macrocephaly, myopia, and BRACHYTELEPHALANGY" RELATED [OMIM:220219] synonym: "Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and BRACHYTELEPHALANGY" RELATED DEPRECATED [OMIM:220219] xref: MESH:C535985 {source="MONDO:equivalentTo"} xref: OMIM:220219 {source="Orphanet:1970", source="MONDO:equivalentTo", source="Orphanet:1970/e"} xref: Orphanet:1970 {source="OMIM:220219", source="MONDO:equivalentTo"} xref: UMLS:C1857352 {source="OMIM:220219", source="Orphanet:1970", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:1970"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020022 ! central nervous system malformation relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation property_value: exactMatch http://identifiers.org/mesh/C535985 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857352 property_value: exactMatch https://omim.org/entry/220219 property_value: exactMatch Orphanet:1970 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1970"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0009075 name: Dandy-Walker malformation-postaxial polydactyly syndrome def: "Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals." [Orphanet:1566] subset: ordo_malformation_syndrome {source="Orphanet:1566"} synonym: "Dandy-Walker malformation with postaxial polydactyly" RELATED [OMIM:220220] synonym: "DWM with postaxial polydactyly" EXACT [OMIM:220220, Orphanet:1566] synonym: "Pierquin syndrome" EXACT [OMIM:220220, Orphanet:1566] xref: MESH:C535771 {source="MONDO:equivalentTo", source="Orphanet:1566", source="Orphanet:1566/e"} xref: OMIM:220220 {source="MONDO:equivalentTo", source="Orphanet:1566", source="Orphanet:1566/e"} xref: Orphanet:1566 {source="MONDO:equivalentTo", source="OMIM:220220"} xref: SCTID:733094005 {source="MONDO:equivalentTo"} xref: UMLS:C1857351 {source="MONDO:equivalentTo", source="OMIM:220220", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1566", source="Orphanet:1566/e"} is_a: MONDO:0020022 ! central nervous system malformation relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation property_value: exactMatch http://identifiers.org/mesh/C535771 property_value: exactMatch http://identifiers.org/snomedct/733094005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857351 property_value: exactMatch https://omim.org/entry/220220 property_value: exactMatch Orphanet:1566 [Term] id: MONDO:0009079 name: DOORS syndrome def: "DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome." [Orphanet:79500, PMID:24291220, PMID:24729539, PMID:24729547, PMID:25557349, PMID:25769375, PMID:26371875] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:79500"} synonym: "autosomal recessive deafness-onychodystrophy syndrome" EXACT [Orphanet:79500] synonym: "brachydactyly due to absence of distal phalanges" RELATED [OMIM:220500] synonym: "deafness onychodystrophy osteodystrophy and intellectual disability syndrome" RELATED [GARD:0001685] synonym: "deafness onychodystrophy osteodystrophy and mental retardation syndrome" RELATED DEPRECATED [GARD:0001685] synonym: "deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures syndrome" RELATED [MONDO:Lexical, OMIM:220500] synonym: "deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome" RELATED DEPRECATED [MONDO:Lexical, OMIM:220500] synonym: "deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome" EXACT [Orphanet:79500] synonym: "deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome" EXACT [Orphanet:79500] synonym: "deafness-onychoosteodystrophy-intellectual disability syndrome" EXACT [GARD:0001685, Orphanet:79500] synonym: "Digitorenocerebral syndrome" RELATED [GARD:0001685, OMIM:220500] synonym: "door syndrome" EXACT [GARD:0001685, OMIM:220500, Orphanet:79500] synonym: "DOORS" RELATED DEPRECATED [MONDO:Lexical, OMIM:220500] synonym: "DOORS syndrome" EXACT [GARD:0001685] synonym: "drc syndrome" RELATED [OMIM:220500] synonym: "Eronen syndrome" RELATED [OMIM:220500] xref: DOID:0111627 {source="MONDO:equivalentTo"} xref: MESH:C563052 {source="MONDO:equivalentTo"} xref: OMIM:220500 {source="GARD:0001685", source="Orphanet:79500/e", source="MONDO:equivalentTo", source="Orphanet:79500"} xref: Orphanet:79500 {source="GARD:0001685", source="MONDO:equivalentTo", source="OMIM:220500"} xref: SCTID:719800009 {source="MONDO:equivalentTo"} is_a: MONDO:0017922 {source="Orphanet:79500"} ! deafness-onychodystrophy syndrome property_value: exactMatch DOID:0111627 property_value: exactMatch http://identifiers.org/mesh/C563052 property_value: exactMatch http://identifiers.org/snomedct/719800009 property_value: exactMatch https://omim.org/entry/220500 property_value: exactMatch Orphanet:79500 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1685/deafness-onychodystrophy-osteodystrophy-and-mental-retardation-syndrome xsd:anyURI {source="GARD:0001685"} [Term] id: MONDO:0009080 name: split hand-foot malformation 1 with sensorineural hearing loss def: "Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." [Orphanet:71271] comment: DO classifies under split hand-foot malformation, but we enforce disjointness between syndromes and features subset: ordo_malformation_syndrome {source="Orphanet:71271"} synonym: "congenital deafness with split hands and feet" EXACT [DOID:0090024] synonym: "deafness, congenital, with split hands and feet" RELATED [OMIM:220600] synonym: "SHFM1D" EXACT ABBREVIATION [DOID:0090024, MONDO:Lexical, OMIM:220600] synonym: "split hand-foot malformation 1 with sensorineural hearing loss" EXACT [] synonym: "split hand-split foot-deafness syndrome" RELATED [Orphanet:71271] synonym: "split-hand/foot malformation 1 with sensorineural hearing loss" EXACT [OMIM:220600, OMIM:genemap2] synonym: "split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive" RELATED [MONDO:Lexical, OMIM:220600] xref: DOID:0090024 {source="MONDO:equivalentTo"} xref: MESH:C565647 {source="MONDO:equivalentTo"} xref: OMIM:220600 {source="Orphanet:71271/e", source="MONDO:equivalentTo", source="DOID:0090024", source="Orphanet:71271"} xref: Orphanet:71271 {source="MONDO:equivalentTo", source="DOID:0090024", source="OMIM:220600"} xref: SCTID:723611008 {source="MONDO:equivalentTo"} xref: UMLS:C1857344 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:220600", source="Orphanet:71271"} is_a: MONDO:0015161 {source="Orphanet:71271"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0018454 ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation is_a: MONDO:0800090 {source="PMID:31633310"} ! ectrodactyly with and without other manifestations property_value: exactMatch DOID:0090024 property_value: exactMatch http://identifiers.org/mesh/C565647 property_value: exactMatch http://identifiers.org/snomedct/723611008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857344 property_value: exactMatch https://omim.org/entry/220600 property_value: exactMatch Orphanet:71271 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0009082 name: high myopia-sensorineural deafness syndrome def: "High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations." [Orphanet:363396] subset: ordo_disease {source="Orphanet:363396"} synonym: "deafness and myopia" RELATED [MONDO:Lexical, OMIM:221200] synonym: "deafness and myopia syndrome" RELATED [GARD:0012844] synonym: "DFNMYP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:221200] synonym: "high myopia-sensorineural deafness syndrome" EXACT [] xref: DOID:0111628 {source="MONDO:equivalentTo"} xref: OMIM:221200 {source="Orphanet:363396", source="MONDO:equivalentTo", source="Orphanet:363396/e"} xref: Orphanet:363396 {source="MONDO:equivalentTo", source="OMIM:221200"} xref: SCTID:720506002 {source="MONDO:equivalentTo"} xref: UMLS:CN204687 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: exactMatch DOID:0111628 property_value: exactMatch http://identifiers.org/snomedct/720506002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204687 property_value: exactMatch https://omim.org/entry/221200 property_value: exactMatch Orphanet:363396 [Term] id: MONDO:0009084 name: conductive deafness-ptosis-skeletal anomalies syndrome def: "Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978." [Orphanet:3236] subset: ordo_malformation_syndrome {source="Orphanet:3236"} synonym: "deafness conductive ptosis skeletal anomalies" RELATED [GARD:0000305] synonym: "deafness, conductive, with ptosis and skeletal anomalies" RELATED [OMIM:221320] synonym: "Jackson Barr syndrome" RELATED [GARD:0000305] synonym: "Jackson-Barr syndrome" EXACT [Orphanet:3236] xref: MESH:C535993 {source="Orphanet:3236", source="MONDO:equivalentTo", source="Orphanet:3236/e"} xref: OMIM:221320 {source="Orphanet:3236", source="MONDO:equivalentTo", source="Orphanet:3236/e"} xref: Orphanet:3236 {source="MONDO:equivalentTo", source="OMIM:221320"} xref: SCTID:763213001 {source="MONDO:equivalentTo"} xref: UMLS:C1857340 {source="Orphanet:3236", source="MONDO:equivalentTo", source="OMIM:221320", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3236/e"} is_a: MONDO:0019287 {source="Orphanet:3236"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C535993 property_value: exactMatch http://identifiers.org/snomedct/763213001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857340 property_value: exactMatch https://omim.org/entry/221320 property_value: exactMatch Orphanet:3236 [Term] id: MONDO:0009085 name: deafness-vitiligo-achalasia syndrome def: "Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia." [Orphanet:3239] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:3239"} synonym: "congenital deafness with vitiligo and achalasia" RELATED [GARD:0001705] synonym: "deafness vitiligo achalasia" RELATED [GARD:0001705] synonym: "deafness, congenital, with vitiligo and achalasia" RELATED [OMIM:221350] xref: MESH:C565642 {source="MONDO:equivalentTo"} xref: OMIM:221350 {source="MONDO:equivalentTo", source="Orphanet:3239", source="Orphanet:3239/e", source="GARD:0001705"} xref: Orphanet:3239 {source="OMIM:221350", source="MONDO:equivalentTo", source="GARD:0001705"} xref: UMLS:C1857339 {source="OMIM:221350", source="MONDO:equivalentTo", source="Orphanet:3239", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0000508 {source="Orphanet:3239/inferred"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C565642 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857339 property_value: exactMatch https://omim.org/entry/221350 property_value: exactMatch Orphanet:3239 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1705/congenital-deafness-with-vitiligo-and-achalasia xsd:anyURI {source="GARD:0001705"} [Term] id: MONDO:0009086 name: deafness-small bowel diverticulosis-neuropathy syndrome def: "Deafness-small bowel diverticulosis-neuropathy syndrome is characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis)." [Orphanet:3217] subset: ordo_disease {source="Orphanet:3217"} synonym: "deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy" RELATED [OMIM:221400] synonym: "Groll Hirschowitz syndrome" RELATED [GARD:0002568] synonym: "Groll-Hirschowitz syndrome" EXACT [OMIM:221400, Orphanet:3217] synonym: "nerve type deafness with mesenteric diverticula of small bowel and progressive sensory neuropathy" RELATED [GARD:0002568] xref: MESH:C537305 {source="MONDO:equivalentTo"} xref: OMIM:221400 {source="MONDO:equivalentTo", source="Orphanet:3217", source="Orphanet:3217/e"} xref: Orphanet:3217 {source="MONDO:equivalentTo", source="OMIM:221400"} xref: SCTID:733071009 {source="MONDO:equivalentTo"} xref: UMLS:C1857338 {source="MONDO:equivalentTo", source="Orphanet:3217", source="MONDO:ncbi_mim2gene_medline", source="OMIM:221400"} is_a: EFO:0000508 {source="Orphanet:3217/inferred"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C537305 property_value: exactMatch http://identifiers.org/snomedct/733071009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857338 property_value: exactMatch https://omim.org/entry/221400 property_value: exactMatch Orphanet:3217 [Term] id: MONDO:0009089 name: deafness-oligodontia syndrome def: "Deafness-oligodontia syndrome is characterized by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive." [Orphanet:3230] subset: gard_rare {source="GARD:0001698"} subset: ordo_malformation_syndrome {source="Orphanet:3230"} synonym: "autosomal recessive sensorineural hearing impairment, dizziness, and hypodontia" RELATED [GARD:0001698] synonym: "congenital profound sensorineural deafness and oligodontia" RELATED [GARD:0001698] synonym: "deafness oligodontia syndrome" RELATED [GARD:0001698] synonym: "deafness-oligodontia syndrome" EXACT [OMIM:221740] xref: MESH:C538049 {source="Orphanet:3230/e", source="MONDO:equivalentTo", source="Orphanet:3230"} xref: OMIM:221740 {source="Orphanet:3230/e", source="MONDO:equivalentTo", source="Orphanet:3230"} xref: Orphanet:3230 {source="MONDO:equivalentTo", source="OMIM:221740"} xref: UMLS:C1857333 {source="Orphanet:3230/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:221740", source="Orphanet:3230"} is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:3230", source="Orphanet:3230/inferred"} ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C538049 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857333 property_value: exactMatch https://omim.org/entry/221740 property_value: exactMatch Orphanet:3230 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1698/deafness-oligodontia-syndrome xsd:anyURI {source="GARD:0001698"} [Term] id: MONDO:0009091 name: non-acquired combined pituitary hormone deficiency with spine abnormalities def: "Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated." [Orphanet:231720] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:231720"} synonym: "CPHD3" RELATED ABBREVIATION [GARD:0010603, MONDO:Lexical, OMIM:221750] synonym: "Deafness, sensorineural with pituitary dwarfism" RELATED [GARD:0010603] synonym: "deafness, sensorineural, with pituitary dwarfism" RELATED [OMIM:221750] synonym: "non-acquired combined pituitary hormone deficiency with spine abnormalities" EXACT [] synonym: "non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome" EXACT [Orphanet:231720] synonym: "non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome" RELATED [Orphanet:231720] synonym: "Pituitary hormone deficiency, combined with rigid cervical spine" RELATED [GARD:0010603] synonym: "pituitary hormone deficiency, combined, 3" RELATED [MONDO:Lexical, OMIM:221750] synonym: "pituitary hormone deficiency, combined, type 3" EXACT [MONDORULE:1, OMIM:221750] synonym: "pituitary hormone deficiency, combined, with rigid cervical spine" RELATED [OMIM:221750] synonym: "Winkelmann-Bethge-Pfeiffer syndrome" RELATED [GARD:0010603] xref: MESH:C536710 {source="MONDO:equivalentTo"} xref: OMIM:221750 {source="MONDO:equivalentTo", source="Orphanet:231720", source="GARD:0010603", source="Orphanet:231720/e"} xref: Orphanet:231720 {source="MONDO:equivalentTo", source="OMIM:221750"} xref: UMLS:C3489787 {source="MONDO:equivalentTo", source="OMIM:221750"} is_a: MONDO:0013099 {source="MONDO:Redundant", source="OMIM:221750"} ! combined pituitary hormone deficiencies, genetic form is_a: MONDO:0018762 {source="https://orcid.org/0000-0001-5208-3432"} ! non-acquired combined pituitary hormone deficiency property_value: exactMatch http://identifiers.org/mesh/C536710 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3489787 property_value: exactMatch https://omim.org/entry/221750 property_value: exactMatch Orphanet:231720 [Term] id: MONDO:0009092 name: polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly def: "A rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities." [Orphanet:2770] subset: ordo_malformation_syndrome {source="Orphanet:2770"} synonym: "brain-bone-fat disease" RELATED [OMIM:221770] synonym: "dementia, prefrontal, with bone cysts" RELATED [OMIM:221770] synonym: "dementia, progressive, with lipomembranous polycystic osteodysplasia" RELATED [OMIM:221770] synonym: "Nasu-Hakola disease" EXACT [OMIM:221770] synonym: "NHD" EXACT ABBREVIATION [DOID:0090112, Orphanet:2770] synonym: "PLO-SL" EXACT [DOID:0090112, Orphanet:2770] synonym: "PLOSL" EXACT ABBREVIATION [DOID:0090112, MONDO:Lexical, OMIM:221770, Orphanet:2770] synonym: "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy" EXACT [DOID:0090112, MONDO:Lexical, OMIM:221770, Orphanet:2770] synonym: "polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly" EXACT [OMIMPS:221770] synonym: "presenile dementia with bone cysts" EXACT [DOID:0090112, OMIM:221770] synonym: "progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease" EXACT [DOID:0090112] xref: DOID:0090112 {source="MONDO:equivalentTo"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIMPS:221770 {source="MONDO:equivalentTo"} xref: Orphanet:2770 {source="MONDO:equivalentTo", source="DOID:0090112", source="OMIM:221770"} xref: SCTID:702347001 {source="MONDO:equivalentTo"} xref: UMLS:C1857316 {source="Orphanet:2770", source="MONDO:equivalentTo", source="DOID:0090112", source="MONDO:ncbi_mim2gene_medline", source="OMIM:221770", source="Orphanet:2770/e"} is_a: EFO:1000017 {source="DOID:0090112", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0019046 {source="Orphanet:2770"} ! leukodystrophy is_a: MONDO:0019707 {source="Orphanet:2770"} ! primary osteolysis property_value: exactMatch DOID:0090112 property_value: exactMatch http://identifiers.org/snomedct/702347001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857316 property_value: exactMatch https://omim.org/phenotypicSeries/PS221770 property_value: exactMatch Orphanet:2770 [Term] id: MONDO:0009094 name: dermochondrocorneal dystrophy def: "Dermochondrocorneal dystrophy is characterized by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive." [Orphanet:79149] subset: ordo_disease {source="Orphanet:79149"} synonym: "DCCD" RELATED ABBREVIATION [GARD:0001815] synonym: "dermochondrocorneal dystrophy" EXACT [OMIM:221800] synonym: "Dermochondrocorneal dystrophy of François" RELATED [GARD:0001815] synonym: "FranC'ois syndrome" EXACT [Orphanet:79149] synonym: "Francois syndrome" RELATED [OMIM:221800] synonym: "François syndrome" EXACT [Orphanet:79149] xref: ICD9:379.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535375 {source="MONDO:equivalentTo"} xref: OMIM:221800 {source="Orphanet:79149", source="MONDO:equivalentTo", source="Orphanet:79149/e"} xref: Orphanet:79149 {source="MONDO:equivalentTo", source="OMIM:221800"} xref: SCTID:254150007 {source="MONDO:equivalentTo"} xref: UMLS:C0432288 {source="Orphanet:79149", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:221800"} is_a: MONDO:0020215 {source="Orphanet:79149"} ! syndromic corneal dystrophy is_a: MONDO:0021154 {source="Orphanet:79149"} ! dermis disorder property_value: exactMatch http://identifiers.org/mesh/C535375 property_value: exactMatch http://identifiers.org/snomedct/254150007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432288 property_value: exactMatch https://omim.org/entry/221800 property_value: exactMatch Orphanet:79149 [Term] id: MONDO:0009095 name: dermatoosteolysis, Kirghizian type def: "Dermatoosteolysis, Kirghizian type, is characterized by recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five sibs in a family of Kirghizian origin (Central Asia). Three of the sibs also presented with keratitis leading to visual impairment or blindess. Transmission is autosomal recessive." [Orphanet:1657] subset: gard_rare {source="GARD:0001814"} subset: ordo_malformation_syndrome {source="Orphanet:1657"} synonym: "autosomal recessive syndrome of skin ulceration, arthroosteolysis with pseudoacromegaly, keratitis, and oligodontia" RELATED [GARD:0001814] synonym: "Dermatoosteolysis Kirghizian type" RELATED [GARD:0001814] synonym: "dermatoosteolysis, Kirghizian type" EXACT [OMIM:221810] synonym: "Kirghizian Dermatoosteolysis" RELATED [OMIM:221810] xref: MESH:C535373 {source="MONDO:equivalentTo", source="Orphanet:1657", source="Orphanet:1657/e"} xref: OMIM:221810 {source="MONDO:equivalentTo", source="Orphanet:1657", source="Orphanet:1657/e"} xref: Orphanet:1657 {source="MONDO:equivalentTo", source="OMIM:221810"} xref: SCTID:721090002 {source="MONDO:equivalentTo"} xref: UMLS:C1857301 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1657", source="OMIM:221810", source="Orphanet:1657/e"} is_a: MONDO:0019287 {source="MESH:C535373", source="Orphanet:1657"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C535373 property_value: exactMatch http://identifiers.org/snomedct/721090002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857301 property_value: exactMatch https://omim.org/entry/221810 property_value: exactMatch Orphanet:1657 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1814/dermatoosteolysis-kirghizian-type xsd:anyURI {source="GARD:0001814"} [Term] id: MONDO:0009096 name: obsolete hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4502 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI is_obsolete: true replaced_by: MONDO:0800027 [Term] id: MONDO:0009097 name: persistent hyperplastic primary vitreous, autosomal recessive def: "Autosomal recessive form of persistent hyperplastic primary vitreous." [MONDO:patterns/autosomal_recessive] synonym: "autosomal recessive persistent hyperplastic primary vitreous" EXACT [MONDO:design_pattern] synonym: "persistent fetal vasculature" RELATED [OMIM:221900] synonym: "persistent foetal vasculature" RELATED OMO:0003005 [] synonym: "persistent hyperplastic primary vitreous, autosomal recessive" EXACT [MONDO:Lexical, MONDO:patterns/autosomal_recessive, OMIM:221900] synonym: "PHPVAR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:221900] synonym: "retinal nonattachment and falciform detachment" RELATED [OMIM:221900] synonym: "retinal nonattachment, nonsyndromic congenital" RELATED [OMIM:221900] xref: OMIM:221900 {source="MONDO:equivalentTo"} xref: Orphanet:300337 {source="MONDO:equivalentObsolete", source="OMIM:221900"} xref: UMLS:C1969783 {source="MONDO:equivalentTo"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0019631 {source="DC-OMIM:221900", source="MONDO:Redundant", source="OMIM:221900"} ! persistent hyperplastic primary vitreous property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969783 property_value: exactMatch https://omim.org/entry/221900 [Term] id: MONDO:0009099 name: nephrogenic diabetes insipidus-intracranial calcification syndrome def: "This syndrome is characterized by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism." [Orphanet:3145] subset: gard_rare subset: ordo_disease {source="Orphanet:3145"} synonym: "diabetes insipidus nephrogenic intellectual disability and intracerebral calcification" RELATED [GARD:0000259] synonym: "diabetes insipidus nephrogenic mental retardation and intracerebral calcification" RELATED DEPRECATED [GARD:0000259] synonym: "diabetes insipidus, nephrogenic, with intellectual disability and intracerebral calcification" RELATED [OMIM:221995] synonym: "diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification" RELATED DEPRECATED [OMIM:221995] synonym: "Schofer Beetz Bohl syndrome" RELATED [GARD:0000259] synonym: "Schofer-Beetz-Bohl syndrome" EXACT [Orphanet:3145] xref: OMIM:221995 {source="Orphanet:3145", source="GARD:0000259", source="MONDO:equivalentTo", source="Orphanet:3145/e"} xref: Orphanet:3145 {source="GARD:0000259", source="MONDO:equivalentTo", source="OMIM:221995"} xref: SCTID:716200002 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease is_a: MONDO:0015962 {source="Orphanet:3145"} ! inherited renal tubular disease property_value: exactMatch http://identifiers.org/snomedct/716200002 property_value: exactMatch https://omim.org/entry/221995 property_value: exactMatch Orphanet:3145 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/259/diabetes-insipidus-nephrogenic-mental-retardation-and-intracerebral-calcification xsd:anyURI {source="GARD:0000259"} [Term] id: MONDO:0009104 name: Donnai-Barrow syndrome def: "Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common." [Orphanet:2143] subset: gard_rare {source="GARD:0001899"} subset: ordo_malformation_syndrome {source="Orphanet:2143"} synonym: "DBS/FOAR syndrome" EXACT [DOID:0090144, OMIM:222448, Orphanet:2143] synonym: "diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria" RELATED [GARD:0001899] synonym: "diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and Proteinuria" RELATED [OMIM:222448] synonym: "diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria" EXACT [DOID:0090144] synonym: "diaphragmatic hernia-exomphalos-hypertelorism syndrome" EXACT [DOID:0090144, Orphanet:2143] synonym: "diaphragmatic hernia-hypertelorism-myopia-deafness syndrome" EXACT [DOID:0090144, Orphanet:2143] synonym: "Donnai-Barrow syndrome" EXACT [OMIM:222448] synonym: "facio-oculo-acoustico-renal syndrome" EXACT [DOID:0090144, Orphanet:2143] synonym: "faciooculoacousticorenal syndrome" EXACT [DOID:0090144] synonym: "FOAR syndrome" EXACT [DOID:0090144, Orphanet:2143] synonym: "Holmes-Schepens syndrome" EXACT [DOID:0090144, Orphanet:2143] synonym: "syndrome of ocular and facial anomalies, telecanthus and deafness" EXACT [DOID:0090144, Orphanet:2143] xref: DOID:0090144 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536390 {source="Orphanet:2143", source="DOID:0090144", source="MONDO:equivalentTo", source="Orphanet:2143/e"} xref: OMIM:222448 {source="Orphanet:2143", source="DOID:0090144", source="MONDO:equivalentTo", source="Orphanet:2143/e"} xref: Orphanet:2143 {source="DOID:0090144", source="MONDO:equivalentTo", source="OMIM:222448"} xref: SCTID:702418009 {source="MONDO:equivalentTo"} xref: UMLS:C1857277 {source="Orphanet:2143", source="DOID:0090144", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2143/e", source="OMIM:222448"} is_a: EFO:1000017 {source="DOID:0090144", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015160 {source="Orphanet:2143"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch DOID:0090144 property_value: exactMatch http://identifiers.org/mesh/C536390 property_value: exactMatch http://identifiers.org/snomedct/702418009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857277 property_value: exactMatch https://omim.org/entry/222448 property_value: exactMatch Orphanet:2143 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1899/donnai-barrow-syndrome xsd:anyURI {source="GARD:0001899"} [Term] id: MONDO:0009105 name: trichohepatoenteric syndrome def: "A severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction." [Orphanet:84064] subset: ordo_disease {source="Orphanet:84064"} synonym: "phenotypic diarrhea" EXACT [Orphanet:84064] synonym: "phenotypic diarrhoea" EXACT OMO:0003005 [] synonym: "SD/THE" EXACT [Orphanet:84064] synonym: "Syndromatic diarrhea" RELATED [GARD:0005258] synonym: "Syndromatic diarrhoea" RELATED OMO:0003005 [] synonym: "syndromic diarrhea" EXACT [MONDO:patterns/syndromic] synonym: "syndromic diarrhea/Tricho-hepato-enteric syndrome" EXACT [Orphanet:84064] synonym: "syndromic diarrhoea" EXACT OMO:0003005 [] synonym: "THES1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:222470] synonym: "Tricho-hepato-enteric syndrome" EXACT [Orphanet:84064] synonym: "Trichohepatoenteric syndrome" EXACT [Orphanet:84064] synonym: "Trichohepatoenteric syndrome type 1" EXACT [MONDORULE:1, OMIM:222470] xref: DOID:0111414 {source="MONDO:equivalentTo"} xref: OMIMPS:222470 {source="MONDO:equivalentTo"} xref: Orphanet:84064 {source="OMIM:222470", source="MONDO:equivalentTo"} xref: SCTID:703406006 {source="MONDO:equivalentTo"} xref: UMLS:C1857276 {source="OMIM:222470", source="MONDO:equivalentTo", source="Orphanet:84064"} is_a: MONDO:0015135 ! primary immunodeficiency due to a genetic defect in innate immunity is_a: MONDO:0015508 {source="MONDO:Redundant", source="Orphanet:84064"} ! hereditary parenchymatous liver disease is_a: MONDO:0018782 {source="Orphanet:84064"} ! type 1 interferonopathy is_a: MONDO:0019126 {source="Orphanet:84064"} ! intractable diarrhea of infancy is_a: MONDO:0023603 ! hereditary disorder of connective tissue property_value: exactMatch DOID:0111414 property_value: exactMatch http://identifiers.org/snomedct/703406006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857276 property_value: exactMatch https://omim.org/phenotypicSeries/PS222470 property_value: exactMatch Orphanet:84064 [Term] id: MONDO:0009106 name: diastematomyelia def: "A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida." [NCIT:C98913] subset: ordo_morphological_anomaly {source="Orphanet:1671"} synonym: "diastematomyelia" EXACT [OMIM:222500] synonym: "Dimyelia" RELATED [GARD:0001851] synonym: "diplomyelia" RELATED [GARD:0001851] synonym: "Pseudodiplomyelia" RELATED [GARD:0001851] synonym: "SCM type 1" EXACT [Orphanet:1671] synonym: "split cord malformation" RELATED [GARD:0001851] synonym: "split cord malformation type 1" EXACT [Orphanet:1671] synonym: "split spinal cord malformation" RELATED [GARD:0001851] synonym: "SSCM" RELATED ABBREVIATION [GARD:0001851] xref: ICD10CM:Q06.2 {source="Orphanet:1671", source="MONDO:equivalentTo", source="Orphanet:1671/e", source="Orphanet:1671/specific"} xref: ICD9:742.51 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10012750 {source="Orphanet:1671", source="Orphanet:1671/e"} xref: NCIT:C98913 {source="MONDO:equivalentTo"} xref: OMIM:222500 {source="Orphanet:1671", source="MONDO:equivalentTo", source="Orphanet:1671/e"} xref: Orphanet:1671 {source="MONDO:equivalentTo", source="OMIM:222500"} xref: SCTID:49351009 {source="MONDO:equivalentTo"} xref: UMLS:C0011999 {source="Orphanet:1671", source="NCIT:C98913", source="MONDO:equivalentTo", source="Orphanet:1671/e", source="MONDO:ncbi_mim2gene_medline", source="OMIM:222500"} is_a: MONDO:0002320 {source="NCIT:C98913"} ! congenital nervous system disorder is_a: MONDO:0018075 {source="MONDO:0017085-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neural tube defect property_value: closeMatch http://identifiers.org/meddra/10012750 property_value: exactMatch http://identifiers.org/snomedct/49351009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011999 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q06.2 property_value: exactMatch https://omim.org/entry/222500 property_value: exactMatch NCIT:C98913 property_value: exactMatch Orphanet:1671 [Term] id: MONDO:0009107 name: diastrophic dysplasia def: "Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips)." [Orphanet:628] subset: ordo_disease {source="Orphanet:628"} synonym: "DD" RELATED ABBREVIATION [OMIM:222600] synonym: "diastrophic dwarfism" RELATED [Orphanet:628] synonym: "diastrophic dysplasia" EXACT [MONDO:Lexical, OMIM:222600, Orphanet:628] synonym: "diastrophic dysplasia, Broad bone-Platyspondylic variant" RELATED [OMIM:222600] synonym: "DTD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:222600] xref: DOID:14687 {source="MONDO:equivalentTo"} xref: ICD10CM:Q77.5 {source="MONDO:equivalentTo", source="Orphanet:628/specific", source="Orphanet:628", source="DOID:14687", source="Orphanet:628/e"} xref: ICD9:756.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536170 {source="MONDO:equivalentTo", source="DOID:14687"} xref: NCIT:C156311 {source="MONDO:equivalentTo"} xref: OMIM:222600 {source="MONDO:equivalentTo", source="Orphanet:628", source="DOID:14687", source="Orphanet:628/e"} xref: Orphanet:628 {source="MONDO:equivalentTo", source="OMIM:222600"} xref: SCTID:58561002 {source="MONDO:equivalentTo", source="DOID:14687"} is_a: EFO:0005571 {source="DOID:14687"} ! osteochondrodysplasia is_a: MONDO:0019688 {source="Orphanet:628", source="PMID:31633310"} ! sulfation-related bone disorder property_value: exactMatch DOID:14687 property_value: exactMatch http://identifiers.org/mesh/C536170 property_value: exactMatch http://identifiers.org/snomedct/58561002 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q77.5 property_value: exactMatch https://omim.org/entry/222600 property_value: exactMatch NCIT:C156311 property_value: exactMatch Orphanet:628 property_value: excluded_subClassOf MONDO:0018232 {source="Orphanet:628"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0009108 name: hyperdibasic aminoaciduria type 1 def: "Hyperdibasic aminoaciduria, type 1 is characterized by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit. To date, 25 heterozygotes and one homozygote have been reported." [Orphanet:1032] subset: gard_rare subset: ordo_disease {source="Orphanet:1032"} synonym: "dibasic amino aciduria 1" RELATED [OMIM:222690] synonym: "dibasic amino aciduria I" RELATED [OMIM:222690] synonym: "dibasic amino aciduria type 1" EXACT [MONDORULE:1, OMIM:222690] synonym: "dibasic aminoaciduria 1" RELATED [GARD:0001854] xref: MESH:C567132 {source="MONDO:equivalentTo"} xref: OMIM:222690 {source="Orphanet:1032", source="MONDO:equivalentTo", source="Orphanet:1032/e"} xref: Orphanet:1032 {source="OMIM:222690", source="MONDO:equivalentObsolete"} xref: UMLS:C2673736 {source="Orphanet:1032", source="OMIM:222690", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019216 {source="Orphanet:1032", source="PMID:33340416"} ! inborn disorder of amino acid transport property_value: exactMatch http://identifiers.org/mesh/C567132 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673736 property_value: exactMatch https://omim.org/entry/222690 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1854/dibasic-aminoaciduria-1 xsd:anyURI {source="GARD:0001854"} [Term] id: MONDO:0009109 name: lysinuric protein intolerance def: "Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism." [Orphanet:470] subset: gard_rare {source="GARD:0003335"} subset: ordo_disease {source="Orphanet:470"} synonym: "dibasic amino aciduria 2" RELATED [OMIM:222700] synonym: "dibasic amino aciduria II" EXACT [DOID:0060439] synonym: "dibasic aminoaciduria 2" RELATED [GARD:0001853] synonym: "Dibasicamino aciduria II" RELATED [GARD:0003335] synonym: "hyperdibasic aminoaciduria" EXACT [DOID:0060439] synonym: "hyperdibasic aminoaciduria type 2" EXACT [Orphanet:470] synonym: "LPI" EXACT ABBREVIATION [DOID:0060439, MONDO:Lexical, OMIM:222700, Orphanet:470] synonym: "lysinuric PROTEIN intolerance" RELATED [OMIM:222700] synonym: "lysinuric protein intolerance" EXACT [MONDO:Lexical, OMIM:222700] xref: DOID:0060439 {source="MONDO:equivalentTo"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10058300 {source="Orphanet:470", source="Orphanet:470/e"} xref: MESH:C562687 {source="MONDO:equivalentTo", source="DOID:0060439"} xref: NCIT:C121563 {source="MONDO:equivalentTo", source="DOID:0060439"} xref: OMIM:222700 {source="MONDO:equivalentTo", source="Orphanet:470", source="DOID:0060439", source="Orphanet:470/e"} xref: Orphanet:470 {source="MONDO:equivalentTo", source="DOID:0060439", source="OMIM:222700"} xref: SCTID:303852004 {source="MONDO:equivalentTo", source="DOID:0060439"} xref: UMLS:C0268647 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:470", source="DOID:0060439", source="NCIT:C121563", source="OMIM:222700", source="Orphanet:470/e"} is_a: MONDO:0019216 {source="Orphanet:470", source="PMID:33340416"} ! inborn disorder of amino acid transport property_value: closeMatch http://identifiers.org/meddra/10058300 property_value: exactMatch DOID:0060439 property_value: exactMatch http://identifiers.org/mesh/C562687 property_value: exactMatch http://identifiers.org/snomedct/303852004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268647 property_value: exactMatch https://omim.org/entry/222700 property_value: exactMatch NCIT:C121563 property_value: exactMatch Orphanet:470 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1853/dibasic-aminoaciduria-2 xsd:anyURI {source="GARD:0001853"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3335/lysinuric-protein-intolerance xsd:anyURI {source="GARD:0003335"} [Term] id: MONDO:0009110 name: dicarboxylic aminoaciduria def: "Dicarboxylicaminoaciduria is characterized by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit." [Orphanet:2195] subset: gard_rare {source="GARD:0001855"} subset: ordo_disease {source="Orphanet:2195"} synonym: "DCBXA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:222730] synonym: "dicarboxylic aminoaciduria" EXACT [MONDO:Lexical, OMIM:222730] synonym: "Dicarboxylicaminoaciduria" RELATED [GARD:0001855] synonym: "glutamate-aspartate Transport defect" RELATED [OMIM:222730] synonym: "glutamate-aspartate transport defect" EXACT [DOID:0060650, Orphanet:2195] xref: DOID:0060650 {source="MONDO:equivalentTo"} xref: MESH:C536171 {source="Orphanet:2195/e", source="DOID:0060650", source="MONDO:equivalentTo", source="Orphanet:2195"} xref: OMIM:222730 {source="Orphanet:2195/e", source="DOID:0060650", source="MONDO:equivalentTo", source="Orphanet:2195"} xref: Orphanet:2195 {source="DOID:0060650", source="MONDO:equivalentTo", source="OMIM:222730"} xref: SCTID:716747007 {source="MONDO:equivalentTo"} xref: UMLS:C1857253 {source="Orphanet:2195/e", source="DOID:0060650", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:222730", source="Orphanet:2195"} is_a: MONDO:0019216 {source="Orphanet:2195", source="PMID:33340416"} ! inborn disorder of amino acid transport property_value: exactMatch DOID:0060650 property_value: exactMatch http://identifiers.org/mesh/C536171 property_value: exactMatch http://identifiers.org/snomedct/716747007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857253 property_value: exactMatch https://omim.org/entry/222730 property_value: exactMatch Orphanet:2195 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1855/dicarboxylic-aminoaciduria xsd:anyURI {source="GARD:0001855"} [Term] id: MONDO:0009111 name: dihydropyrimidinuria def: "Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity." [Orphanet:38874] subset: ordo_disease {source="Orphanet:38874"} synonym: "dihydropyrimidinase deficiency" EXACT [MONDO:Lexical, OMIM:222748, Orphanet:38874] synonym: "dihydropyrimidinuria" EXACT [OMIM:222748] synonym: "Dph deficiency" RELATED [OMIM:222748] synonym: "Dpys deficiency" RELATED [OMIM:222748] synonym: "DPYSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:222748] xref: DOID:0111629 {source="MONDO:equivalentTo"} xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:222748 {source="Orphanet:38874/e", source="MONDO:equivalentTo", source="Orphanet:38874"} xref: Orphanet:38874 {source="OMIM:222748", source="MONDO:equivalentTo"} xref: SCTID:238014002 {source="MONDO:equivalentTo"} is_a: MONDO:0019238 {source="Orphanet:38874"} ! inborn disorder of pyrimidine metabolism property_value: exactMatch DOID:0111629 property_value: exactMatch http://identifiers.org/snomedct/238014002 property_value: exactMatch https://omim.org/entry/222748 property_value: exactMatch Orphanet:38874 [Term] id: MONDO:0009112 name: rhizomelic chondrodysplasia punctata type 2 def: "Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0009429"} subset: ordo_etiological_subtype {source="Orphanet:309796"} synonym: "chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate" RELATED [GARD:0009429] synonym: "chondrodysplasia punctata, rhizomelic, due to Dihydroxyacetonephosphate acyltransferase deficiency" EXACT [DOID:0110852] synonym: "Dhapat deficiency" EXACT [DOID:0110852] synonym: "Dihydroxyacetonephosphate acyltransferase deficiency" EXACT [DOID:0110852] synonym: "Glyceronephosphate O-acyltransferase deficiency" EXACT [DOID:0110852] synonym: "Gnpat deficiency" EXACT [DOID:0110852, OMIM:222765] synonym: "GNPAT rhizomelic chondrodysplasia punctata" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "peroxisomal dihydroxyacetonephosphate acyltransferase deficiency" EXACT [DOID:0110852, OMIM:222765] synonym: "RCDP2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:222765] synonym: "Rcdp2" EXACT [DOID:0110852] synonym: "rhizomelic chondrodysplasia punctata caused by mutation in GNPAT" EXACT [MONDO:design_pattern] synonym: "rhizomelic chondrodysplasia punctata type 2" EXACT [OMIM:222765] synonym: "rhizomelic chondrodysplasia punctata, type 2" EXACT [MONDO:Lexical, OMIM:222765] synonym: "type 2 rhizomelic chondrodysplasia punctata" EXACT [GARD:0009429] xref: DOID:0110852 {source="MONDO:equivalentTo"} xref: MESH:C537607 {source="MONDO:equivalentTo"} xref: OMIM:222765 {source="DOID:0110852", source="Orphanet:309796/e", source="MONDO:equivalentTo", source="Orphanet:309796"} xref: Orphanet:309796 {source="DOID:0110852", source="MONDO:equivalentTo", source="OMIM:222765"} xref: UMLS:C1857242 {source="Orphanet:309796/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:222765", source="Orphanet:309796"} is_a: MONDO:0015776 {source="DC-OMIM:222765", source="DOID:0110852", source="MESH:C537607", source="MONDO:Redundant", source="OMIM:222765", source="Orphanet:309796"} ! rhizomelic chondrodysplasia punctata is_a: MONDO:0100273 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! glyceronephosphate O-acyltransferase deficiency property_value: exactMatch DOID:0110852 property_value: exactMatch http://identifiers.org/mesh/C537607 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857242 property_value: exactMatch https://omim.org/entry/222765 property_value: exactMatch Orphanet:309796 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9429/rhizomelic-chondrodysplasia-punctata-type-2 xsd:anyURI {source="GARD:0009429"} [Term] id: MONDO:0009113 name: hemolytic anemia due to diphosphoglycerate mutase deficiency def: "A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly." [NCIT:C131638] subset: ordo_disease {source="Orphanet:714"} synonym: "bisphosphoglycerate mutase deficiency" RELATED [OMIM:222800] synonym: "bisphosphoglyceromutase deficiency" RELATED [OMIM:222800] synonym: "BPGM deficiency" RELATED [OMIM:222800] synonym: "diphosphoglycerate mutase deficiency of erythrocyte" RELATED [OMIM:222800] synonym: "diphosphoglycerate phosphatase deficiency" EXACT [NCIT:C131638] synonym: "DPGM deficiency" RELATED [OMIM:222800] synonym: "erythrocytosis, familial, 8" EXACT [OMIM:222800, OMIM:genemap2] xref: DOID:0111630 {source="MONDO:equivalentTo"} xref: NCIT:C131638 {source="MONDO:equivalentTo"} xref: OMIM:222800 {source="MONDO:equivalentTo", source="Orphanet:714", source="Orphanet:714/e"} xref: Orphanet:714 {source="MONDO:equivalentTo", source="OMIM:222800"} xref: UMLS:C1291620 {source="NCIT:C131638", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0003689 ! familial hemolytic anemia is_a: MONDO:0019052 {source="MONDO:0019602-obsoleted", source="MONDO:Redundant", source="NCIT:C131638", source="OMIM:222800", source="Orphanet:714/inferred"} ! inborn errors of metabolism is_a: MONDO:0020585 ! anemia due to erythrocyte enzyme disorder property_value: exactMatch DOID:0111630 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1291620 property_value: exactMatch https://omim.org/entry/222800 property_value: exactMatch NCIT:C131638 property_value: exactMatch Orphanet:714 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009114 name: congenital sucrase-isomaltase deficiency def: "A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterized by malabsorption of sucrose and maltose." [https://rarediseases.info.nih.gov/diseases/7710/congenital-sucrase-isomaltase-deficiency] subset: gard_rare subset: ordo_disease {source="Orphanet:35122"} synonym: "congenital sucrase-isomaltase deficiency" EXACT [] synonym: "congenital sucrase-isomaltose malabsorption" EXACT [Orphanet:35122] synonym: "congenital sucrose intolerance" EXACT [Orphanet:35122] synonym: "congenital sucrose malabsorption" RELATED [] synonym: "congenital sucrose-isomaltase intolerance" RELATED [] synonym: "congenital sucrose-isomaltase malabsorption" RELATED [GARD:0007710] synonym: "CSID" EXACT ABBREVIATION [MONDO:Lexical, OMIM:222900, Orphanet:35122] synonym: "disaccharide intolerance" EXACT [Orphanet:35122] synonym: "disaccharide intolerance 1" RELATED [OMIM:222900] synonym: "disaccharide intolerance i" RELATED [] synonym: "disaccharide intolerance, 1" RELATED [GARD:0007710] synonym: "genetic sucrase-isomaltose malabsorption" EXACT [Orphanet:35122] synonym: "intestinal sucrase-a-dextrinase deficiency" RELATED [] synonym: "invertase deficiency" RELATED [] synonym: "SI deficiency" RELATED [OMIM:222900] synonym: "sucrase-alpha-dextrinase deficiency" RELATED [] synonym: "sucrase-isomaltase deficiency" EXACT [] synonym: "sucrase-isomaltase deficiency, congenital" RELATED [MONDO:Lexical, OMIM:222900] synonym: "sucrose intolerance congenital" RELATED [GARD:0007710] synonym: "sucrose intolerance, congenital" RELATED [OMIM:222900] synonym: "sucrose isomaltose enzyme deficiency" RELATED [GARD:0006183] synonym: "sucrose-isomaltase malabsorption, congenital" RELATED [GARD:0007710] synonym: "sucrose-isomaltose malabsorption, congenital" RELATED [OMIM:222900] xref: DOID:0111633 {source="MONDO:equivalentTo"} xref: ICD9:271.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10066387 {source="Orphanet:35122/e", source="Orphanet:35122"} xref: MESH:C538139 {source="Orphanet:35122/e", source="MONDO:equivalentTo", source="Orphanet:35122"} xref: NCIT:C128190 {source="MONDO:equivalentTo"} xref: OMIM:222900 {source="Orphanet:35122/e", source="MONDO:equivalentTo", source="Orphanet:35122"} xref: Orphanet:35122 {source="MONDO:equivalentTo", source="OMIM:222900"} xref: SCTID:78373000 {source="MONDO:equivalentTo"} xref: UMLS:C1283620 {source="Orphanet:35122/e", source="MONDO:relatedTo", source="GARD:0006183", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C128190", source="Orphanet:35122", source="OMIM:222900"} is_a: EFO:1000060 ! intestinal disaccharide deficiency and disaccharide malabsorption is_a: MONDO:0017706 {source="Orphanet:35122", source="PMID:33340416"} ! disorder of carbohydrate transmembrane transport and absorption relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: closeMatch http://identifiers.org/meddra/10066387 property_value: exactMatch DOID:0111633 property_value: exactMatch http://identifiers.org/mesh/C538139 property_value: exactMatch http://identifiers.org/snomedct/78373000 property_value: exactMatch https://omim.org/entry/222900 property_value: exactMatch NCIT:C128190 property_value: exactMatch Orphanet:35122 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: relatedMatch http://linkedlifedata.com/resource/umls/id/C1283620 property_value: seeAlso https://ghr.nlm.nih.gov/condition/congenital-sucrase-isomaltase-deficiency xsd:anyURI {source="https://github.com/monarch-initiative/mondo/issues/886"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6183/congenital-sucrose-isomaltose-malabsorption xsd:anyURI {source="GARD:0006183"} [Term] id: MONDO:0009115 name: congenital lactase deficiency def: "Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula." [Orphanet:53690] subset: gard_rare {source="GARD:0012311"} subset: ordo_disease {source="Orphanet:53690"} synonym: "Alactasia, congenital" RELATED [OMIM:223000] synonym: "congenital lactase deficiency" EXACT [] synonym: "disaccharide intolerance 2" RELATED [OMIM:223000] synonym: "lactase deficiency, congenital" RELATED [OMIM:223000] xref: DOID:0111646 {source="MONDO:equivalentTo"} xref: ICD10CM:E73.0 {source="Orphanet:53690/e", source="Orphanet:53690/specific", source="MONDO:equivalentTo", source="Orphanet:53690"} xref: ICD9:271.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562600 {source="MONDO:equivalentTo"} xref: OMIM:223000 {source="Orphanet:53690/e", source="MONDO:equivalentTo", source="Orphanet:53690"} xref: Orphanet:53690 {source="OMIM:223000", source="MONDO:equivalentTo"} xref: SCTID:5388008 {source="MONDO:equivalentTo"} is_a: MONDO:0017706 {source="Orphanet:53690", source="PMID:33340416"} ! disorder of carbohydrate transmembrane transport and absorption relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch DOID:0111646 property_value: exactMatch http://identifiers.org/mesh/C562600 property_value: exactMatch http://identifiers.org/snomedct/5388008 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E73.0 property_value: exactMatch https://omim.org/entry/223000 property_value: exactMatch Orphanet:53690 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12311/congenital-lactase-deficiency xsd:anyURI {source="GARD:0012311"} [Term] id: MONDO:0009120 name: diverticulosis of bowel, hernia, and retinal detachment def: "A syndromic intestinal malformation characterized by the association of marfanoid habitus with visceral diverticula. It has been reported in four adults and two siblings from a consanguineous marriage in two different publications. Pediatric cases also presented with diaphragmatic hernia. Other connective tissue disorders with visceral diverticula have been reported previously, suggesting a relationship between these two conditions." [Orphanet:2464, PMID:13880014, PMID:8976669] comment: The disease entity is based solely on two publications from 1962 and 1996 and it is unclear if the patients described had a Mendelian disease. subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2464"} synonym: "diverticulosis of bowel, hernia, and retinal detachment" EXACT [OMIM:223330] synonym: "marfanoid syndrome, De Silva type" EXACT [Orphanet:2464] synonym: "Marphanoid syndrome type De Silva" RELATED [GARD:0003401] xref: MESH:C565619 {source="MONDO:equivalentTo"} xref: OMIM:223330 {source="Orphanet:2464", source="MONDO:equivalentTo", source="Orphanet:2464/e"} xref: Orphanet:2464 {source="OMIM:223330", source="MONDO:equivalentTo"} xref: UMLS:C1857227 {source="Orphanet:2464", source="OMIM:223330", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015212 {source="Orphanet:2464"} ! syndromic intestinal malformation property_value: exactMatch http://identifiers.org/mesh/C565619 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857227 property_value: exactMatch https://omim.org/entry/223330 property_value: exactMatch Orphanet:2464 [Term] id: MONDO:0009121 name: von Voss-Cherstvoy syndrome def: "Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia." [Orphanet:3439] subset: ordo_malformation_syndrome {source="Orphanet:3439"} synonym: "DK phocomelia syndrome" EXACT [OMIM:223340, Orphanet:3439] synonym: "phocomelia thrombocytopenia encephalocele and urogenital malformations" RELATED [GARD:0001894] synonym: "phocomelia, thrombocytopenia, encephalocele, urogenital malformations" RELATED [OMIM:223340] synonym: "phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome" EXACT [Orphanet:3439] synonym: "Von Voss Cherstvoy syndrome" RELATED [GARD:0001894] synonym: "von Voss-Cherstvoy syndrome" EXACT [OMIM:223340] xref: MESH:C565618 {source="MONDO:equivalentTo"} xref: OMIM:223340 {source="MONDO:equivalentTo", source="Orphanet:3439", source="Orphanet:3439/e"} xref: Orphanet:3439 {source="OMIM:223340", source="MONDO:equivalentTo"} xref: SCTID:719021005 {source="MONDO:equivalentTo"} xref: UMLS:C1857226 {source="OMIM:223340", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3439"} is_a: MONDO:0015161 {source="Orphanet:3439"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C565618 property_value: exactMatch http://identifiers.org/snomedct/719021005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857226 property_value: exactMatch https://omim.org/entry/223340 property_value: exactMatch Orphanet:3439 [Term] id: MONDO:0009123 name: orthostatic hypotension 1 def: "A very rare primary monoamine neurotransmitter synthesis disorder with norepinephrine and adrenaline deficiency that leads to young-onset severe orthostatic hypotension and eyelid ptosis." [Orphanet:230] subset: gard_rare {source="GARD:0001903"} subset: ordo_disease {source="Orphanet:230"} synonym: "congenital dopamine beta-hydroxylase deficiency" EXACT [DOID:0090145] synonym: "dopamine beta hydroxylase deficiency" RELATED [GARD:0001903] synonym: "dopamine beta-hydroxylase deficiency" EXACT [] synonym: "dopamine BETA-HYDROXYLASE deficiency, congenital" RELATED [OMIM:223360] synonym: "noradrenaline deficiency" EXACT [DOID:0090145, OMIM:223360, Orphanet:230] synonym: "norepinephrine deficiency" EXACT [DOID:0090145, OMIM:223360, Orphanet:230] synonym: "orthostatic hypotension 1, due to DBH deficiency" EXACT [OMIM:223360, OMIM:genemap2] xref: DOID:0090145 {source="MONDO:equivalentTo"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535600 {source="Orphanet:230/e", source="MONDO:equivalentTo", source="DOID:0090145", source="Orphanet:230"} xref: OMIM:223360 {source="Orphanet:230/e", source="MONDO:equivalentTo", source="DOID:0090145", source="Orphanet:230"} xref: Orphanet:230 {source="OMIM:223360", source="MONDO:equivalentTo", source="DOID:0090145"} xref: SCTID:237923004 {source="MONDO:equivalentTo"} xref: UMLS:C0342687 {source="OMIM:223360", source="Orphanet:230/e", source="MONDO:equivalentTo", source="DOID:0090145", source="Orphanet:230"} is_a: MONDO:0017759 {source="Orphanet:230"} ! disorder of catecholamine synthesis is_a: MONDO:0020158 {source="MONDO:0020169-obsoleted"} ! eyelids malposition disorder is_a: MONDO:0021272 ! inherited orthostatic hypotension property_value: exactMatch DOID:0090145 property_value: exactMatch http://identifiers.org/mesh/C535600 property_value: exactMatch http://identifiers.org/snomedct/237923004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342687 property_value: exactMatch https://omim.org/entry/223360 property_value: exactMatch Orphanet:230 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1903/dopamine-beta-hydroxylase-deficiency xsd:anyURI {source="GARD:0001903"} [Term] id: MONDO:0009124 name: Dubowitz syndrome def: "A rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." [Orphanet:235] subset: gard_rare {source="GARD:0006290"} subset: ordo_malformation_syndrome {source="Orphanet:235"} synonym: "Dubowitz syndrome" EXACT [OMIM:223370] synonym: "Dubowitz's syndrome" EXACT [DOID:14796] synonym: "dwarfism-eczema-peculiar facies syndrome" RELATED [GARD:0006290] synonym: "intrauterine growth retardation, short stature, microcephaly, mild intellectual disability with behavior problems, eczema, and unusual and distinctive faci" RELATED [GARD:0006290] synonym: "intrauterine growth retardation, short stature, microcephaly, mild intellectual disability with behaviour problems, eczema, and unusual and distinctive faci" RELATED OMO:0003005 [] synonym: "intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci" RELATED DEPRECATED [GARD:0006290] synonym: "intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behaviour problems, eczema, and unusual and distinctive faci" RELATED OMO:0003005 [] xref: DOID:14796 {source="MONDO:equivalentTo"} xref: ICD9:742.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10059589 {source="Orphanet:235", source="Orphanet:235/e", source="DOID:14796"} xref: MESH:C535718 {source="Orphanet:235", source="MONDO:equivalentTo", source="Orphanet:235/e", source="DOID:14796"} xref: NCIT:C125591 {source="MONDO:equivalentTo"} xref: OMIM:223370 {source="Orphanet:235", source="MONDO:equivalentTo", source="Orphanet:235/e", source="DOID:14796"} xref: Orphanet:235 {source="OMIM:223370", source="MONDO:equivalentTo"} xref: SCTID:2593002 {source="MONDO:equivalentTo", source="DOID:14796"} xref: UMLS:C0175691 {source="NCIT:C125591", source="OMIM:223370", source="Orphanet:235", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:235/e", source="DOID:14796"} is_a: MONDO:0015159 {source="Orphanet:235"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0019287 {source="Orphanet:235"} ! ectodermal dysplasia syndrome is_a: MONDO:0020158 {source="MONDO:0020169-obsoleted"} ! eyelids malposition disorder property_value: closeMatch http://identifiers.org/meddra/10059589 property_value: exactMatch DOID:14796 property_value: exactMatch http://identifiers.org/mesh/C535718 property_value: exactMatch http://identifiers.org/snomedct/2593002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0175691 property_value: exactMatch https://omim.org/entry/223370 property_value: exactMatch NCIT:C125591 property_value: exactMatch Orphanet:235 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:235"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6290/dubowitz-syndrome xsd:anyURI {source="GARD:0006290"} [Term] id: MONDO:0009126 name: duodenal atresia def: "Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen." [Orphanet:1203] subset: gard_rare subset: ordo_morphological_anomaly {source="Orphanet:1203"} synonym: "atresia of duodenum" EXACT [NCIT:C101025] synonym: "congenital atresia of duodenum" EXACT [NCIT:C101025] synonym: "congenital duodenal atresia" EXACT [NCIT:C101025] synonym: "duodenal atresia" EXACT [MONDO:ambiguous, OMIM:223400] synonym: "duodenal atresia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "duodenal stenosis" RELATED [GARD:0000054] xref: DOID:0080216 {source="MONDO:equivalentTo"} xref: HP:0002247 {source="MONDO:otherHierarchy"} xref: ICD9:751.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10013812 {source="Orphanet:1203", source="Orphanet:1203/e"} xref: MESH:C535720 {source="MONDO:equivalentTo", source="Orphanet:1203", source="Orphanet:1203/e"} xref: NCIT:C101025 {source="MONDO:equivalentTo"} xref: OMIM:223400 {source="GARD:0000054", source="MONDO:equivalentTo", source="Orphanet:1203", source="DOID:0080216", source="Orphanet:1203/e"} xref: Orphanet:1203 {source="GARD:0000054", source="MONDO:equivalentTo", source="OMIM:223400"} xref: SCTID:51118003 {source="MONDO:equivalentTo"} xref: UMLS:C0266174 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1203", source="NCIT:C101025", source="OMIM:223400", source="Orphanet:1203/e"} is_a: MONDO:0001045 {source="DOID:0080216", source="NCIT:C101025/inferred"} ! intestinal atresia is_a: MONDO:0015209 {source="Orphanet:1203"} ! non-syndromic gastroduodenal malformation is_a: MONDO:0015211 {source="Orphanet:1203"} ! non-syndromic intestinal malformation property_value: closeMatch http://identifiers.org/meddra/10013812 property_value: exactMatch DOID:0080216 property_value: exactMatch http://identifiers.org/mesh/C535720 property_value: exactMatch http://identifiers.org/snomedct/51118003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266174 property_value: exactMatch https://omim.org/entry/223400 property_value: exactMatch NCIT:C101025 property_value: exactMatch Orphanet:1203 property_value: IAO:0000589 "duodenal atresia (disease)" xsd:string [Term] id: MONDO:0009128 name: dwarfism, intellectual disability, and eye abnormality synonym: "dwarfism, intellectual disability, and eye abnormality" EXACT [OMIM:223540] synonym: "dwarfism, mental retardation, and eye abnormality" EXACT DEPRECATED [OMIM:223540] synonym: "Mollica syndrome" RELATED [OMIM:223540] xref: MESH:C535809 {source="MONDO:equivalentTo"} xref: OMIM:223540 {source="MONDO:equivalentTo"} xref: Orphanet:2650 {source="MONDO:equivalentObsolete", source="OMIM:223540"} xref: UMLS:C0796076 {source="OMIM:223540", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0000508 {source="MESH:C535809/inferred", source="Orphanet:2650/inferred"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C535809 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796076 property_value: exactMatch https://omim.org/entry/223540 [Term] id: MONDO:0009130 name: Dyggve-Melchior-Clausen disease def: "Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias." [Orphanet:239] subset: ordo_disease {source="Orphanet:239"} synonym: "DMC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:223800] synonym: "DMC disease" EXACT [DOID:0111167] synonym: "DMC syndrome" RELATED [GARD:0006295] synonym: "Dyggve-Melchior-Clausen disease" EXACT [MONDO:Lexical, OMIM:223800] synonym: "Dyggve-Melchior-Clausen syndrome" EXACT [NCIT:C124844] synonym: "pseudo-Morquio disease type I" EXACT [DOID:0111167] xref: DOID:0111167 {source="MONDO:equivalentTo"} xref: NCIT:C124844 {source="MONDO:equivalentTo"} xref: OMIM:223800 {source="Orphanet:239", source="MONDO:equivalentTo", source="Orphanet:239/e", source="DOID:0111167"} xref: Orphanet:239 {source="MONDO:equivalentTo", source="OMIM:223800"} xref: SCTID:82699004 {source="MONDO:equivalentTo"} xref: UMLS:C0265286 {source="Orphanet:239", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:239/e", source="NCIT:C124844", source="OMIM:223800"} is_a: MONDO:0002254 {source="NCIT:C124844"} ! syndromic disease is_a: MONDO:0016761 {source="DOID:0111167", source="Orphanet:239", source="PMID:31633310"} ! spondyloepiphyseal dysplasia property_value: exactMatch DOID:0111167 property_value: exactMatch http://identifiers.org/snomedct/82699004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265286 property_value: exactMatch https://omim.org/entry/223800 property_value: exactMatch NCIT:C124844 property_value: exactMatch Orphanet:239 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0009131 name: Riley-Day syndrome def: "A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system." [NCIT:C84706] subset: ordo_disease {source="Orphanet:1764"} synonym: "dysautonomia, familial" RELATED [https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms, OMIM:223900] synonym: "familial autonomic nervous dysfunction" RELATED [DOID:11589] synonym: "familial dysautonomia" EXACT [DOID:11589, https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms, NCIT:C84706, Wikipedia:Familial_dysautonomia] synonym: "hereditary sensory and autonomic neuropathy 3" RELATED [GARD:0007581] synonym: "hereditary sensory and autonomic neuropathy type 3" EXACT [https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms, Orphanet:1764] synonym: "hereditary sensory and autonomic neuropathy type III" EXACT [https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms, NCIT:C84706, Orphanet:1764] synonym: "hereditary sensory neuropathy type 3" RELATED [GARD:0007581] synonym: "HSAN 3" EXACT [https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms, NCIT:C84706, OMIM:223900] synonym: "HSAN III" EXACT [DOID:11589, https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms, NCIT:C84706] synonym: "HSAN3" EXACT ABBREVIATION [https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms, MONDO:Lexical, OMIM:223900, Orphanet:1764] synonym: "HSN 3" RELATED [GARD:0007581] synonym: "neuropathy, hereditary sensory and autonomic, type 3" RELATED [OMIM:223900] synonym: "neuropathy, hereditary sensory and autonomic, type III" EXACT [MONDO:Lexical, NCIT:C84706, OMIM:223900] synonym: "Riley Day syndrome" RELATED [GARD:0007581] synonym: "Riley-Day syndrome" EXACT [https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms, NCIT:C84706, OMIM:223900, Orphanet:1764] xref: DOID:11589 {source="MONDO:equivalentTo"} xref: MedDRA:10039179 {source="Orphanet:1764", source="Orphanet:1764/e"} xref: MESH:D004402 {source="DOID:11589", source="MONDO:equivalentTo", source="Orphanet:1764", source="Orphanet:1764/e"} xref: NCIT:C84706 {source="DOID:11589", source="MONDO:equivalentTo"} xref: OMIM:223900 {source="DOID:11589", source="MONDO:equivalentTo", source="Orphanet:1764", source="Orphanet:1764/e"} xref: Orphanet:1764 {source="MONDO:equivalentTo", source="OMIM:223900"} xref: SCTID:29159009 {source="DOID:11589", source="MONDO:equivalentTo"} xref: UMLS:C0013364 {source="DOID:11589", source="MONDO:equivalentTo", source="NCIT:C84706", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1764", source="OMIM:223900", source="Orphanet:1764/e"} is_a: MONDO:0015366 {source="Orphanet:1764"} ! autosomal recessive hereditary sensory and autonomic neuropathy is_a: MONDO:0021635 {source="Wikipedia:Neurocristopathy"} ! neurocristopathy property_value: closeMatch http://identifiers.org/meddra/10039179 property_value: exactMatch DOID:11589 property_value: exactMatch http://identifiers.org/mesh/D004402 property_value: exactMatch http://identifiers.org/snomedct/29159009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013364 property_value: exactMatch https://omim.org/entry/223900 property_value: exactMatch NCIT:C84706 property_value: exactMatch Orphanet:1764 property_value: excluded_subClassOf MONDO:0005093 {source="MONDO:0018798-obsoleted"} property_value: excluded_subClassOf MONDO:0015368 {source="MONDO:0020262-obsoleted"} property_value: excluded_subClassOf MONDO:0015914 {source="Orphanet:1764"} property_value: excluded_subClassOf MONDO:0020194 {source="Orphanet:1764"} property_value: excluded_subClassOf MONDO:0021154 {source="Orphanet:1764"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5682 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/pull/2571/ xsd:anyURI [Term] id: MONDO:0009133 name: cerebellar ataxia, intellectual disability, and dysequilibrium def: "A non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia." [Orphanet:1766] subset: gard_rare {source="GARD:0001998"} subset: ordo_disease {source="Orphanet:1766"} subset: prototype_pattern synonym: "CAMRQ" EXACT ABBREVIATION [DOID:0050997] synonym: "CAMRQ syndrome" EXACT [Orphanet:1766] synonym: "cerebellar ataxia, mental retardation and dysequlibrium syndrome" EXACT DEPRECATED [MONDO:0000564] synonym: "cerebellar ataxia, mental retardation, and dysequilibrium" EXACT DEPRECATED [OMIMPS:224050] synonym: "cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome" EXACT [Orphanet:1766] synonym: "cerebellar disorder, nonprogressive, with mental retardation" RELATED DEPRECATED [GARD:0001998] synonym: "cerebellar hypoplasia, VLDLR associated" RELATED [GARD:0001998] synonym: "DES" RELATED ABBREVIATION [GARD:0001998] synonym: "dialysis dysequilibrium syndrome" EXACT [NCIT:C114781] synonym: "dysequilibrium syndrome" EXACT [GARD:0001998] synonym: "non-progressive cerebellar ataxia-intellectual disability syndrome" EXACT [Orphanet:1766] synonym: "VLDLRCH" RELATED ABBREVIATION [GARD:0001998] xref: DOID:0050997 {source="MONDO:equivalentTo"} xref: MedDRA:10013140 {source="Orphanet:1766", source="Orphanet:1766/e"} xref: MESH:C535731 {source="MONDO:equivalentTo", source="Orphanet:1766", source="Orphanet:1766/e"} xref: NCIT:C114781 {source="MONDO:equivalentTo"} xref: OMIMPS:224050 {source="MONDO:equivalentTo"} xref: Orphanet:1766 {source="MONDO:equivalentTo", source="OMIM:224050"} xref: SCTID:230782004 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="NCIT:C114781"} ! syndromic disease is_a: MONDO:0020043 {source="Orphanet:1766"} ! autosomal recessive congenital cerebellar ataxia property_value: closeMatch http://identifiers.org/meddra/10013140 property_value: exactMatch DOID:0050997 property_value: exactMatch http://identifiers.org/mesh/C535731 property_value: exactMatch http://identifiers.org/snomedct/230782004 property_value: exactMatch https://omim.org/phenotypicSeries/PS224050 property_value: exactMatch NCIT:C114781 property_value: exactMatch Orphanet:1766 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1998/dysequilibrium-syndrome xsd:anyURI {source="GARD:0001998"} [Term] id: MONDO:0009134 name: congenital dyserythropoietic anemia type 2 def: "Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones." [Orphanet:98873] subset: ordo_disease {source="Orphanet:98873"} synonym: "anemia, congenital dyserythropoietic, type 2" RELATED [OMIM:224100] synonym: "anemia, congenital dyserythropoietic, type II" RELATED [MONDO:Lexical, OMIM:224100] synonym: "anemia, dyserythropoietic, congenital type 2" RELATED [GARD:0002001] synonym: "Cda 2" RELATED [OMIM:224100] synonym: "CDA II" EXACT [Orphanet:98873] synonym: "CDA type 2" EXACT [Orphanet:98873] synonym: "CDA type II" EXACT [Orphanet:98873] synonym: "CDAN2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:224100] synonym: "congenital dyserythropoietic anemia type 2" EXACT [Orphanet:98873] synonym: "dyserythropoietic Anemia, congenital, type 2" RELATED [OMIM:224100] synonym: "dyserythropoietic anemia, congenital, type II" EXACT [OMIM:224100, OMIM:genemap2] synonym: "dyserythropoietic Anemia, hempas type" RELATED [OMIM:224100] synonym: "hempas anaemia" RELATED OMO:0003005 [] synonym: "hempas anemia" RELATED [GARD:0002001] synonym: "hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)" EXACT [Orphanet:98873] synonym: "hereditary erythroblastic multinuclearity with Positive acidified-serum test" RELATED [OMIM:224100] synonym: "SEC23B-CDG" EXACT [Orphanet:98873] xref: DOID:0111401 {source="MONDO:equivalentTo"} xref: ICD9:285.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:224100 {source="Orphanet:98873", source="MONDO:equivalentTo", source="Orphanet:98873/e"} xref: Orphanet:98873 {source="OMIM:224100", source="MONDO:equivalentTo"} xref: SCTID:68870007 {source="MONDO:equivalentTo"} is_a: MONDO:0000577 ! congenital anemia is_a: MONDO:0017749 {source="Orphanet:98873"} ! disorder of multiple glycosylation is_a: MONDO:0019403 {source="DC-OMIM:224100", source="OMIM:224100", source="Orphanet:98873"} ! congenital dyserythropoietic anemia property_value: exactMatch DOID:0111401 property_value: exactMatch http://identifiers.org/snomedct/68870007 property_value: exactMatch https://omim.org/entry/224100 property_value: exactMatch Orphanet:98873 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009138 name: dysosteosclerosis def: "Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly." [Orphanet:1782] subset: gard_rare {source="GARD:0002012"} subset: ordo_malformation_syndrome {source="Orphanet:1782"} synonym: "dysosteosclerosis" EXACT [OMIM:224300] xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562973 {source="MONDO:equivalentTo"} xref: OMIM:224300 {source="Orphanet:1782", source="MONDO:equivalentTo", source="Orphanet:1782/e"} xref: Orphanet:1782 {source="MONDO:equivalentTo", source="OMIM:224300"} xref: SCTID:254123002 {source="MONDO:equivalentTo"} xref: UMLS:C0432262 {source="Orphanet:1782", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:224300", source="Orphanet:1782/e"} is_a: MONDO:0017198 {source="Orphanet:1782", source="PMID:31633310"} ! osteopetrosis property_value: exactMatch http://identifiers.org/mesh/C562973 property_value: exactMatch http://identifiers.org/snomedct/254123002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432262 property_value: exactMatch https://omim.org/entry/224300 property_value: exactMatch Orphanet:1782 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2012/dysosteosclerosis xsd:anyURI {source="GARD:0002012"} [Term] id: MONDO:0009139 name: dyssegmental dysplasia, Rolland-Desbuquois type subset: gard_rare {source="GARD:0009810"} subset: ordo_disease {source="Orphanet:156731"} synonym: "Anisospondylic camptomicromelic dwarfism Rolland-Desbuquois type" RELATED [GARD:0009810] synonym: "Anisospondylic Camptomicromelic dwarfism, Rolland-Desbuquois type" RELATED [OMIM:224400] synonym: "Ddrd" RELATED [OMIM:224400] synonym: "dyssegmental dwarfism Rolland-Desbuquois type" RELATED [GARD:0009810] synonym: "dyssegmental dwarfism, Rolland-Desbuquois type" RELATED [OMIM:224400] synonym: "dyssegmental dysplasia Rolland-Desbuquois type" RELATED [GARD:0009810] synonym: "dyssegmental dysplasia, Rolland-Desbuquois type" EXACT [OMIM:224400] xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537999 {source="Orphanet:156731", source="MONDO:equivalentTo", source="Orphanet:156731/e"} xref: OMIM:224400 {source="Orphanet:156731", source="MONDO:equivalentTo", source="Orphanet:156731/e"} xref: Orphanet:156731 {source="MONDO:equivalentTo", source="OMIM:224400"} xref: SCTID:95243004 {source="MONDO:equivalentTo"} xref: UMLS:C0432209 {source="Orphanet:156731", source="MONDO:equivalentTo", source="OMIM:224400", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:156731/e"} is_a: MONDO:0016761 {source="Orphanet:156731"} ! spondyloepiphyseal dysplasia is_a: MONDO:0019689 {source="PMID:31633310"} ! perlecan-related bone disorder property_value: exactMatch http://identifiers.org/mesh/C537999 property_value: exactMatch http://identifiers.org/snomedct/95243004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432209 property_value: exactMatch https://omim.org/entry/224400 property_value: exactMatch Orphanet:156731 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9810/dyssegmental-dysplasia-rolland-desbuquois-type xsd:anyURI {source="GARD:0009810"} [Term] id: MONDO:0009140 name: Silverman-Handmaker type dyssegmental dysplasia def: "Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities." [Orphanet:1865] subset: gard_rare {source="GARD:0002026"} subset: ordo_disease {source="Orphanet:1865"} synonym: "Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type" RELATED [GARD:0002026] synonym: "Anisospondylic Camptomicromelic dwarfism, Silverman-Handmaker type" RELATED [OMIM:224410] synonym: "DDSH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:224410] synonym: "dyssegmental dwarfism Silverman-Handmaker type" RELATED [GARD:0002026] synonym: "dyssegmental dwarfism, Silverman-Handmaker type" RELATED [OMIM:224410] synonym: "dyssegmental dysplasia Silverman-Handmaker type" RELATED [GARD:0002026] synonym: "dyssegmental dysplasia, Silverman-Handmaker type" RELATED [MONDO:Lexical, OMIM:224410] xref: DOID:0090032 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537998 {source="MONDO:equivalentTo"} xref: OMIM:224410 {source="DOID:0090032", source="MONDO:equivalentTo", source="Orphanet:1865", source="Orphanet:1865/e"} xref: Orphanet:1865 {source="DOID:0090032", source="MONDO:equivalentTo", source="OMIM:224410"} xref: SCTID:93132001 {source="MONDO:equivalentTo"} is_a: MONDO:0016151 ! qualitative or quantitative defects of perlecan is_a: MONDO:0016761 {source="Orphanet:1865"} ! spondyloepiphyseal dysplasia is_a: MONDO:0019689 {source="Orphanet:1865"} ! perlecan-related bone disorder property_value: exactMatch DOID:0090032 property_value: exactMatch http://identifiers.org/mesh/C537998 property_value: exactMatch http://identifiers.org/snomedct/93132001 property_value: exactMatch https://omim.org/entry/224410 property_value: exactMatch Orphanet:1865 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2026/dyssegmental-dysplasia-silverman-handmaker-type xsd:anyURI {source="GARD:0002026"} [Term] id: MONDO:0009141 name: torsion dystonia 2 def: "Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet." [Orphanet:99657] subset: ordo_disease {source="Orphanet:99657"} synonym: "autosomal recessive torsion dystonia 2" EXACT [NCIT:C123415] synonym: "dystonia 2, torsion, autosomal recessive" RELATED [MONDO:Lexical, OMIM:224500] synonym: "dystonia musculorum deformans 2" RELATED [OMIM:224500] synonym: "dystonia musculorum deformans type 2" RELATED [GARD:0002028] synonym: "dystonic disorder caused by mutation in HPCA" EXACT [MONDO:design_pattern] synonym: "DYT2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:224500, Orphanet:99657] synonym: "HPCA dystonic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "primary dystonia, DYT2 type" RELATED [Orphanet:99657] synonym: "torsion dystonia 2, autosomal recessive type" RELATED [GARD:0002028] synonym: "torsion dystonia type 2" EXACT [DOID:0090038, MONDORULE:1] xref: DOID:0090038 {source="MONDO:equivalentTo"} xref: MESH:C538006 {source="MONDO:equivalentTo"} xref: NCIT:C123415 {source="MONDO:equivalentTo"} xref: OMIM:224500 {source="Orphanet:99657", source="MONDO:equivalentTo", source="DOID:0090038", source="Orphanet:99657/e"} xref: Orphanet:99657 {source="MONDO:equivalentTo", source="DOID:0090038", source="OMIM:224500"} xref: UMLS:C1857093 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:224500", source="NCIT:C123415"} is_a: MONDO:0015990 {source="Orphanet:99657"} ! focal, segmental or multifocal dystonia property_value: exactMatch DOID:0090038 property_value: exactMatch http://identifiers.org/mesh/C538006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857093 property_value: exactMatch https://omim.org/entry/224500 property_value: exactMatch NCIT:C123415 property_value: exactMatch Orphanet:99657 [Term] id: MONDO:0009145 name: SchC6pf-Schulz-Passarge syndrome def: "A rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy." [Orphanet:50944] subset: ordo_disease {source="Orphanet:50944"} synonym: "eccrine tumors with ectodermal dysplasia" RELATED [OMIM:224750] synonym: "eccrine tumors-ectodermal dysplasia" EXACT [Orphanet:50944] synonym: "eccrine tumours with ectodermal dysplasia" RELATED OMO:0003005 [] synonym: "keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis" RELATED [OMIM:224750] synonym: "keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome" EXACT [Orphanet:50944] synonym: "palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome" EXACT [Orphanet:50944] synonym: "palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome" EXACT [Orphanet:50944] synonym: "SCHOPF-Schulz-Passarge syndrome" RELATED [MONDO:Lexical, OMIM:224750] synonym: "SChöPF-Schulz-Passarge syndrome" RELATED [Orphanet:50944] synonym: "SSPS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:224750, Orphanet:50944] xref: DOID:0111647 {source="MONDO:equivalentTo"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C565607 {source="MONDO:equivalentTo"} xref: OMIM:224750 {source="Orphanet:50944/e", source="MONDO:equivalentTo", source="Orphanet:50944"} xref: Orphanet:50944 {source="OMIM:224750", source="MONDO:equivalentTo"} xref: SCTID:700062000 {source="MONDO:equivalentTo"} xref: UMLS:C1857069 {source="OMIM:224750", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:50944"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0017666 {source="MONDO:0017671-obsoleted"} ! diffuse palmoplantar keratoderma is_a: MONDO:0100358 ! ectodermal dysplasia WNT10A related property_value: exactMatch DOID:0111647 property_value: exactMatch http://identifiers.org/mesh/C565607 property_value: exactMatch http://identifiers.org/snomedct/700062000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857069 property_value: exactMatch https://omim.org/entry/224750 property_value: exactMatch Orphanet:50944 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3293 xsd:anyURI [Term] id: MONDO:0009146 name: ectodermal dysplasia-sensorineural deafness syndrome def: "Ectodermal dysplasia-sensorineural deafness syndrome is characterized by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive." [Orphanet:1883] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1883"} synonym: "congenital ectodermal dysplasia with hearing loss" RELATED [GARD:0009723] synonym: "ectodermal dysplasia and neurosensory deafness" RELATED [OMIM:224800] synonym: "ectodermal dysplasia-sensorineural hearing loss syndrome" EXACT [Orphanet:1883] synonym: "hidrotic ectodermal dysplasia, sensorineural hearing loss and contracture of the fifth fingers" RELATED [GARD:0009723] synonym: "Mikaelian syndrome" RELATED [GARD:0009723, MESH:C535757] xref: MESH:C535757 {source="MONDO:equivalentTo"} xref: MESH:C565606 {source="MONDO:equivalentTo"} xref: OMIM:224800 {source="GARD:0009723", source="Orphanet:1883", source="MONDO:equivalentTo", source="Orphanet:1883/e"} xref: Orphanet:1883 {source="MONDO:equivalentTo", source="OMIM:224800"} xref: UMLS:C1857068 {source="Orphanet:1883", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:224800"} is_a: MONDO:0019287 {source="MESH:C535757", source="MESH:C565606", source="Orphanet:1883"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C535757 property_value: exactMatch http://identifiers.org/mesh/C565606 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857068 property_value: exactMatch https://omim.org/entry/224800 property_value: exactMatch Orphanet:1883 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9723/congenital-ectodermal-dysplasia-with-hearing-loss xsd:anyURI {source="GARD:0009723"} [Term] id: MONDO:0009148 name: Rosselli-Gulienetti syndrome def: "A rare congenital ectodermal dysplasia syndrome with a range of signs and symptoms including cleft lip or palate, mental retardation and various forms of ectodermal dysplasia. Additional symptoms may include fused eyelids, absent nails, delayed bone growth and dry skin. It is believed that this syndrome follows an autosomal dominant pattern of inheritance with incomplete penetrance, and caused by a mutation affecting the TP63 gene" [Wikipedia:Rosselli%E2%80%93Gulienetti_syndrome] subset: speculative synonym: "Rosselli-Gulienetti syndrome" EXACT [OMIM:225000] xref: MESH:C563117 {source="MONDO:equivalentTo"} xref: OMIM:225000 {source="MONDO:equivalentTo"} xref: Orphanet:90339 {source="OMIM:225000", source="MONDO:equivalentObsolete", source="MONDO:obsolete"} xref: UMLS:C0796139 {source="OMIM:225000", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0007124 {source="MONDO:cjm"} ! ankyloblepharon-ectodermal defects-cleft lip/palate syndrome property_value: exactMatch http://identifiers.org/mesh/C563117 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796139 property_value: exactMatch https://omim.org/entry/225000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/432 xsd:anyURI [Term] id: MONDO:0009149 name: ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome def: "Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998." [Orphanet:1812] subset: ordo_malformation_syndrome {source="Orphanet:1812"} synonym: "ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum" RELATED [OMIM:225040] xref: MESH:C565605 {source="MONDO:equivalentTo"} xref: OMIM:225040 {source="Orphanet:1812/e", source="MONDO:equivalentTo", source="Orphanet:1812"} xref: Orphanet:1812 {source="MONDO:equivalentTo", source="OMIM:225040"} xref: UMLS:C1857053 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1812", source="OMIM:225040"} is_a: MONDO:0019287 {source="MESH:C565605", source="Orphanet:1812"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C565605 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857053 property_value: exactMatch https://omim.org/entry/225040 property_value: exactMatch Orphanet:1812 [Term] id: MONDO:0009150 name: hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome def: "Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome is characterized by alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction (primary hypothyroidism), hypohidrosis, ephelides, enteropathy, and respiratory tract infections due to ciliary dyskinesia, leading to suggestion of the acronym ANother syndrome as alternative name for this condition. It has been described in three patients (two brothers and an unrelated girl). Transmission is autosomal recessive." [Orphanet:1882] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1882"} synonym: "another syndrome" EXACT [GARD:0002049, Orphanet:1882] synonym: "ectodermal dysplasia hypohidrotic with hypothyroidism and ciliary dyskinesia" RELATED [GARD:0002049] synonym: "ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia" RELATED [OMIM:225050] synonym: "HEDH syndrome" EXACT [GARD:0002049, OMIM:225050, Orphanet:1882] synonym: "hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia" RELATED [GARD:0002049] synonym: "hypohidrotic ectodermal dysplasia with hypothyroidism" RELATED [GARD:0002049] synonym: "hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia" RELATED [GARD:0002049] xref: MESH:C565604 {source="MONDO:equivalentTo"} xref: OMIM:225050 {source="Orphanet:1882", source="GARD:0002049", source="MONDO:equivalentTo", source="Orphanet:1882/e"} xref: Orphanet:1882 {source="GARD:0002049", source="MONDO:equivalentTo", source="OMIM:225050"} xref: SCTID:239050000 {source="MONDO:equivalentTo"} is_a: MONDO:0015778 {source="Orphanet:1882"} ! syndromic hypothyroidism is_a: MONDO:0019287 {source="MESH:C565604", source="Orphanet:1882"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C565604 property_value: exactMatch http://identifiers.org/snomedct/239050000 property_value: exactMatch https://omim.org/entry/225050 property_value: exactMatch Orphanet:1882 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2049/hypohidrotic-ectodermal-dysplasia-with-hypothyroidism-and-ciliary-dyskinesia xsd:anyURI {source="GARD:0002049"} [Term] id: MONDO:0009151 name: cleft lip/palate-ectodermal dysplasia syndrome def: "An ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability." [Orphanet:3253] subset: disease_grouping subset: gard_rare subset: ordo_group_of_disorders {source="Orphanet:320317"} subset: ordo_malformation_syndrome {source="Orphanet:3253"} synonym: "autosomal recessive ectodermal dysplasia" RELATED [GARD:0001045] synonym: "Bustos Simosa pinto Cisternas syndrome" RELATED [GARD:0001045] synonym: "cleft lip with or without cleft palate, nonsyndromic, 7" RELATED [OMIM:225060] synonym: "cleft lip-palate-ectodermal dysplasia syndrome" RELATED [DOID:0060773] synonym: "cleft lip/palate-ectodermal dysplasia syndrome" EXACT [MONDO:0017911, MONDO:Lexical, OMIM:225060, Orphanet:3253] synonym: "cleft lip/palate-syndactyly-pili torti" RELATED [GARD:0000375] synonym: "cleft lip/palate-syndactyly-pili torti syndrome" EXACT [DOID:0060773, Orphanet:3253] synonym: "CLEPD" RELATED ABBREVIATION [Orphanet:320317] synonym: "CLPED1" RELATED ABBREVIATION [DOID:0060773, MONDO:Lexical, OMIM:225060, Orphanet:3253] synonym: "ectodermal dysplasia margarita island type" RELATED [GARD:0001045] synonym: "ectodermal dysplasia type 4" RELATED [GARD:0001045] synonym: "ectodermal dysplasia, cleft lip and palate, intellectual disability, and syndactyly" RELATED [GARD:0000375, OMIM:225060] synonym: "ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly" RELATED DEPRECATED [GARD:0000375, OMIM:225060] synonym: "ectodermal dysplasia, margarita Island type" RELATED [OMIM:225060] synonym: "ectodermal dysplasia, type 4" RELATED [OMIM:225060] synonym: "ED4" RELATED ABBREVIATION [GARD:0001045] synonym: "margarita type of ectodermal dysplasia" EXACT [DOID:0060773] synonym: "orofacial cleft 7" RELATED [OMIM:225060] synonym: "syndactyly-ectodermal dysplasia-cleft/lip palate" EXACT [DOID:0060773, Orphanet:3253] synonym: "Zlotogora syndrome" RELATED [GARD:0000375] synonym: "Zlotogora-Ogur syndrome" EXACT [OMIM:225060, Orphanet:3253] synonym: "Zlotogora-Zilberman-Tenenbaum syndrome" EXACT [DOID:0060773, Orphanet:3253] xref: DOID:0060773 {source="MONDO:equivalentTo"} xref: NCIT:C122656 {source="MONDO:equivalentTo"} xref: OMIM:225060 {source="GARD:0001045", source="Orphanet:3253/e", source="DOID:0060773", source="MONDO:equivalentTo", source="Orphanet:3253"} xref: Orphanet:1991 {source="MONDO:relatedTo", source="OMIM:225060"} xref: Orphanet:320317 {source="MONDO:equivalentObsolete"} xref: Orphanet:3253 {source="DOID:0060773", source="MONDO:equivalentTo", source="OMIM:225060"} xref: SCTID:716248001 {source="MONDO:equivalentTo"} xref: UMLS:CN229116 {source="MONDO:equivalentTo"} is_a: EFO:1000017 {source="DOID:0060773", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0000358 {source="DC-OMIM:225060", source="OMIM:225060"} ! orofacial cleft is_a: MONDO:0019287 {source="MONDO:0009151/inferred", source="MONDO:Redundant", source="NCIT:C122656", source="Orphanet:320317", source="Orphanet:3253/inferred"} ! ectodermal dysplasia syndrome property_value: exactMatch DOID:0060773 property_value: exactMatch http://identifiers.org/snomedct/716248001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229116 property_value: exactMatch https://omim.org/entry/225060 property_value: exactMatch NCIT:C122656 property_value: exactMatch Orphanet:3253 [Term] id: MONDO:0009155 name: EEM syndrome def: "EEM syndrome is characterized by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1)." [Orphanet:1897] subset: gard_rare {source="GARD:0002078"} subset: ordo_malformation_syndrome {source="Orphanet:1897"} synonym: "ectodermal dysplasia, ectrodactyly, and macular dystrophy" RELATED [GARD:0002078] synonym: "ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome" RELATED [MONDO:Lexical, OMIM:225280] synonym: "ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome" EXACT [Orphanet:1897] synonym: "EEM syndrome" EXACT [OMIM:225280] synonym: "EEMS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:225280] xref: DOID:0111649 {source="MONDO:equivalentTo"} xref: MESH:C536190 {source="MONDO:equivalentTo"} xref: OMIM:225280 {source="MONDO:equivalentTo", source="Orphanet:1897", source="Orphanet:1897/e"} xref: Orphanet:1897 {source="MONDO:equivalentTo", source="OMIM:225280"} xref: SCTID:720856002 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation is_a: MONDO:0019287 {source="MESH:C536190", source="Orphanet:1897"} ! ectodermal dysplasia syndrome is_a: MONDO:0020242 {source="Orphanet:1897"} ! hereditary macular dystrophy is_a: MONDO:0800090 {source="PMID:31633310"} ! ectrodactyly with and without other manifestations property_value: exactMatch DOID:0111649 property_value: exactMatch http://identifiers.org/mesh/C536190 property_value: exactMatch http://identifiers.org/snomedct/720856002 property_value: exactMatch https://omim.org/entry/225280 property_value: exactMatch Orphanet:1897 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2078/eem-syndrome xsd:anyURI {source="GARD:0002078"} [Term] id: MONDO:0009156 name: ectrodactyly-polydactyly syndrome def: "A rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982." [Orphanet:1892] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1892"} synonym: "ectrodactyly polydactyly" EXACT [MONDO:0023052] synonym: "ectrodactyly-polydactyly" EXACT [OMIM:225290] xref: MESH:C565601 {source="MONDO:equivalentTo"} xref: OMIM:225290 {source="GARD:0002068", source="Orphanet:1892", source="MONDO:equivalentTo", source="Orphanet:1892/e"} xref: Orphanet:1892 {source="MONDO:equivalentTo", source="OMIM:225290"} xref: UMLS:C1857040 {source="GARD:0002068", source="Orphanet:1892", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:225290"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease is_a: MONDO:0019054 {source="Orphanet:1892"} ! congenital limb malformation property_value: exactMatch http://identifiers.org/mesh/C565601 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857040 property_value: exactMatch https://omim.org/entry/225290 property_value: exactMatch Orphanet:1892 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2068/ectrodactyly-polydactyly xsd:anyURI {source="GARD:0002068"} [Term] id: MONDO:0009158 name: Ehlers-Danlos syndrome, fibronectinemic type def: "Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited connective tissue disorders characterized by variable joint hypermobility and cutaneous hyperextensibility. Type X is distinguished by platelet dysfunction associated with a fibronectin abnormality. Type X EDS has been described in only one family so far. Age of onset is about 13-25 years. Transmission is autosomal recessive." [Orphanet:75501] subset: ordo_disease {source="Orphanet:75501"} synonym: "EDS 10" RELATED [OMIM:225310] synonym: "EDS X" EXACT [Orphanet:75501] synonym: "EDS10 (formerly)" RELATED [GARD:0008508] synonym: "Ehlers-Danlos syndrome type 10" EXACT [Orphanet:75501] synonym: "Ehlers-Danlos syndrome type 10 (formerly)" RELATED [GARD:0008508] synonym: "Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality" EXACT [Orphanet:75501] synonym: "Ehlers-Danlos syndrome, dysfibronectinemic type" RELATED [OMIM:225310] synonym: "Ehlers-Danlos syndrome, fibronectin-deficient" EXACT [Orphanet:75501] synonym: "Ehlers-Danlos syndrome, type 10" RELATED [OMIM:225310] synonym: "Ehlers-Danlos syndrome, type X (formerly)" RELATED [GARD:0008508] synonym: "FN Abnormality" RELATED [OMIM:225310] xref: MESH:C565600 {source="MONDO:equivalentTo"} xref: OMIM:225310 {source="Orphanet:75501", source="MONDO:equivalentTo", source="Orphanet:75501/e"} xref: Orphanet:75501 {source="MONDO:equivalentObsolete", source="OMIM:225310"} xref: SCTID:83586000 {source="MONDO:equivalentTo"} is_a: MONDO:0000009 {source="MONDO:0017142-obsoleted"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0020066 {source="MESH:C565600", source="Orphanet:75501"} ! Ehlers-Danlos syndrome is_a: MONDO:0021181 {source="MONDO:0017142-obsoleted"} ! inherited blood coagulation disorder property_value: exactMatch http://identifiers.org/mesh/C565600 property_value: exactMatch http://identifiers.org/snomedct/83586000 property_value: exactMatch https://omim.org/entry/225310 [Term] id: MONDO:0009159 name: Ehlers-Danlos syndrome, cardiac valvular type def: "Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency." [Orphanet:230851] subset: ordo_disease {source="Orphanet:230851"} synonym: "Cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome" RELATED [MESH:C536200] synonym: "Cardiac valvular form of Ehlers-Danlos syndrome" RELATED [MESH:C536200] synonym: "Cardiac-valvular EDS" RELATED [GARD:0012613] synonym: "Cardiac-valvular Ehlers-Danlos syndrome" RELATED [GARD:0012613] synonym: "cvEDS" RELATED [GARD:0012613] synonym: "EDS, cardiac valvular type" EXACT [Orphanet:230851] synonym: "EDSCV" RELATED ABBREVIATION [OMIM:225320] synonym: "Ehlers-Danlos syndrome, arthrochalasis type" RELATED [MESH:C536200] synonym: "Ehlers-Danlos syndrome, autosomal recessive, CARDIAC valvular form" RELATED [OMIM:225320] synonym: "Ehlers-Danlos syndrome, autosomal recessive, Cardiac valvular form" RELATED [MESH:C536200] synonym: "Ehlers-Danlos syndrome, CARDIAC valvular type" RELATED [OMIM:225320] xref: DOID:0080730 {source="MONDO:equivalentTo"} xref: MESH:C536200 {source="MONDO:equivalentTo"} xref: OMIM:225320 {source="MONDO:equivalentTo", source="Orphanet:230851", source="Orphanet:230851/e"} xref: Orphanet:230851 {source="OMIM:225320", source="MONDO:equivalentTo"} xref: SCTID:720858001 {source="MONDO:equivalentTo"} is_a: EFO:0003777 {source="MONDO:0015506-obsoleted"} ! heart disease is_a: MONDO:0020066 {source="DC-OMIM:225320", source="MESH:C536200", source="OMIM:225320", source="Orphanet:230851"} ! Ehlers-Danlos syndrome property_value: exactMatch DOID:0080730 property_value: exactMatch http://identifiers.org/mesh/C536200 property_value: exactMatch http://identifiers.org/snomedct/720858001 property_value: exactMatch https://omim.org/entry/225320 property_value: exactMatch Orphanet:230851 [Term] id: MONDO:0009161 name: Ehlers-Danlos syndrome, dermatosparaxis type def: "A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility." [Orphanet:1901] subset: ordo_disease {source="Orphanet:1901"} synonym: "dEDS" RELATED [GARD:0002089] synonym: "dermatosparaxis" RELATED [OMIM:225410] synonym: "dermatosparaxis EDS" RELATED [GARD:0002089] synonym: "dermatosparaxis Ehlers-Danlos syndrome" RELATED [GARD:0002089] synonym: "EDS 7C" RELATED [OMIM:225410] synonym: "EDS VIIC" EXACT [Orphanet:1901] synonym: "EDS7C" RELATED ABBREVIATION [OMIM:225410] synonym: "EDSDERMS" RELATED ABBREVIATION [OMIM:225410] synonym: "Ehlers-Danlos syndrome type 7C" EXACT [Orphanet:1901] synonym: "Ehlers-Danlos syndrome type 7C (formerly)" RELATED [GARD:0002089] synonym: "Ehlers-Danlos syndrome, dermatosparaxis type" EXACT [OMIM:225410] synonym: "Ehlers-Danlos syndrome, type VII, autosomal recessive" RELATED [OMIM:225410] xref: DOID:0080733 {source="MONDO:equivalentTo"} xref: MESH:C567527 {source="MONDO:equivalentTo"} xref: OMIM:225410 {source="Orphanet:1901/e", source="MONDO:equivalentTo", source="Orphanet:1901"} xref: Orphanet:1901 {source="OMIM:225410", source="MONDO:equivalentTo"} xref: SCTID:55711009 {source="MONDO:equivalentTo"} is_a: MONDO:0020066 {source="DC-OMIM:225410", source="MESH:C567527", source="OMIM:225410", source="Orphanet:1901"} ! Ehlers-Danlos syndrome property_value: exactMatch DOID:0080733 property_value: exactMatch http://identifiers.org/mesh/C567527 property_value: exactMatch http://identifiers.org/snomedct/55711009 property_value: exactMatch https://omim.org/entry/225410 property_value: exactMatch Orphanet:1901 [Term] id: MONDO:0009162 name: Ellis-van Creveld syndrome def: "Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects." [Orphanet:289] subset: gard_rare {source="GARD:0001301"} subset: ordo_malformation_syndrome {source="Orphanet:289"} synonym: "Chondroectodermal dysplasia" EXACT [DOID:12714, ICD9CM:756.55, OMIM:225500, Orphanet:289] synonym: "Ellis Van Creveld syndrome" RELATED [Orphanet:289] synonym: "Ellis-VAN Creveld syndrome" RELATED [OMIM:225500] synonym: "Ellis-van Creveld syndrome" EXACT [DOID:12714, MONDO:Lexical, OMIM:225500] synonym: "EVC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:225500] synonym: "mesodermic dysplasia" EXACT [Orphanet:289] synonym: "Mesoectodermal dysplasia" RELATED [OMIM:225500] xref: DOID:12714 {source="MONDO:equivalentTo"} xref: ICD9:756.55 {source="DOID:12714", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10008724 {source="Orphanet:289/e", source="Orphanet:289"} xref: MESH:D004613 {source="Orphanet:289/e", source="DOID:12714", source="MONDO:equivalentTo", source="Orphanet:289"} xref: NCIT:C84684 {source="DOID:12714", source="MONDO:equivalentTo"} xref: OMIM:225500 {source="Orphanet:289/e", source="DOID:12714", source="MONDO:equivalentTo", source="Orphanet:289"} xref: Orphanet:289 {source="MONDO:equivalentTo", source="OMIM:225500"} xref: SCTID:62501005 {source="DOID:12714", source="MONDO:equivalentTo"} xref: UMLS:C0013903 {source="Orphanet:289/e", source="DOID:12714", source="MONDO:equivalentTo", source="OMIM:225500", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C84684", source="Orphanet:289"} xref: UMLS:CN239258 {source="MONDO:equivalentTo"} is_a: EFO:0003777 {source="MONDO:0015506-obsoleted"} ! heart disease is_a: EFO:1000017 {source="DOID:12714", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0018770 {source="OMIM:225500"} ! Jeune syndrome is_a: MONDO:0019287 {source="MESH:D004613", source="Orphanet:289"} ! ectodermal dysplasia syndrome property_value: closeMatch http://identifiers.org/meddra/10008724 property_value: exactMatch DOID:12714 property_value: exactMatch http://identifiers.org/mesh/D004613 property_value: exactMatch http://identifiers.org/snomedct/62501005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013903 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239258 property_value: exactMatch https://omim.org/entry/225500 property_value: exactMatch NCIT:C84684 property_value: exactMatch Orphanet:289 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1301/ellis-van-creveld-syndrome xsd:anyURI {source="GARD:0001301"} [Term] id: MONDO:0009166 name: pontocerebellar hypoplasia type 4 def: "Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death." [Orphanet:166063] subset: gard_rare {source="GARD:0000343"} subset: ordo_malformation_syndrome {source="Orphanet:166063"} synonym: "encephalopathy fatal infantile with olivopontocerebellar hypoplasia" RELATED [GARD:0000343] synonym: "encephalopathy, fatal infantile, with olivopontocerebellar Hypoplasia" RELATED [OMIM:225753] synonym: "fatal infantile encephalopathy with olivopontocerebellar hypoplasia" EXACT [Orphanet:166063] synonym: "olivopontocerebellar hypoplasia" EXACT [Orphanet:166063] synonym: "PCH4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:225753, Orphanet:166063] synonym: "pontocerebellar hypoplasia, type 4" RELATED [MONDO:Lexical, OMIM:225753] xref: DOID:0060273 {source="MONDO:equivalentTo"} xref: MESH:C536716 {source="Orphanet:166063/e", source="MONDO:equivalentTo", source="DOID:0060273", source="Orphanet:166063"} xref: OMIM:225753 {source="Orphanet:166063/e", source="MONDO:equivalentTo", source="DOID:0060273", source="Orphanet:166063"} xref: Orphanet:166063 {source="MONDO:equivalentTo", source="OMIM:225753", source="DOID:0060273"} xref: SCTID:718608006 {source="MONDO:equivalentTo"} xref: UMLS:C1856974 {source="Orphanet:166063/e", source="MONDO:equivalentTo", source="OMIM:225753", source="MONDO:ncbi_mim2gene_medline", source="DOID:0060273", source="Orphanet:166063"} is_a: MONDO:0020135 {source="DC-OMIM:225753", source="DOID:0060273", source="OMIM:225753", source="Orphanet:166063"} ! pontocerebellar hypoplasia property_value: exactMatch DOID:0060273 property_value: exactMatch http://identifiers.org/mesh/C536716 property_value: exactMatch http://identifiers.org/snomedct/718608006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856974 property_value: exactMatch https://omim.org/entry/225753 property_value: exactMatch Orphanet:166063 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/343/pontocerebellar-hypoplasia-type-4 xsd:anyURI {source="GARD:0000343"} [Term] id: MONDO:0009167 name: Bonnemann-Meinecke-Reich syndrome def: "Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991." [Orphanet:1261] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1261"} synonym: "Bonnemann Meinecke Reich syndrome" RELATED [GARD:0002113] synonym: "encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration" RELATED [GARD:0002113] synonym: "encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration" RELATED [OMIM:225755] synonym: "encephalopathy-intracerebral calcification-retinal degeneration syndrome" EXACT [Orphanet:1261] xref: MESH:C565594 {source="MONDO:equivalentTo"} xref: OMIM:225755 {source="GARD:0002113", source="Orphanet:1261/e", source="MONDO:equivalentTo", source="Orphanet:1261"} xref: Orphanet:1261 {source="MONDO:equivalentTo", source="OMIM:225755"} xref: SCTID:733049004 {source="MONDO:equivalentTo"} xref: UMLS:C1856973 {source="GARD:0002113", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:225755", source="Orphanet:1261"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDO:indirect"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:1261"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy property_value: exactMatch http://identifiers.org/mesh/C565594 property_value: exactMatch http://identifiers.org/snomedct/733049004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856973 property_value: exactMatch https://omim.org/entry/225755 property_value: exactMatch Orphanet:1261 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1261"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5671 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2113/encephalopathy-intracranial-calcification-growth-hormone-deficiency-microcephaly-retinal-degeneration xsd:anyURI {source="GARD:0002113"} [Term] id: MONDO:0009168 name: Fowler syndrome subset: ordo_malformation_syndrome {source="Orphanet:221126"} synonym: "cerebral proliferative glomeruloid vasculopathy" EXACT [Orphanet:221126] synonym: "Encephaloclastic proliferative vasculopathy" EXACT [OMIM:225790, Orphanet:221126] synonym: "Fowler syndrome" EXACT [] synonym: "hydranencephaly, fowler type" RELATED [OMIM:225790] synonym: "hydrocephaly/hydranencephaly due to cerebral vasculopathy" EXACT [OMIM:225790, Orphanet:221126] synonym: "proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome" RELATED [MONDO:Lexical, OMIM:225790] synonym: "proliferative vasculopathy and hydranencephaly/hydrocephaly" EXACT [Orphanet:221126] synonym: "PVHH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:225790] xref: DOID:0111666 {source="MONDO:equivalentTo"} xref: ICD9:596.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10071718 {source="Orphanet:221126", source="Orphanet:221126/e"} xref: MESH:C565593 {source="MONDO:equivalentTo"} xref: OMIM:225790 {source="MONDO:equivalentTo", source="Orphanet:221126", source="Orphanet:221126/e"} xref: Orphanet:221126 {source="OMIM:225790", source="MONDO:equivalentTo"} xref: SCTID:700242002 {source="MONDO:equivalentTo"} is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:221126", source="Orphanet:221126/inferred"} ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: closeMatch http://identifiers.org/meddra/10071718 property_value: exactMatch DOID:0111666 property_value: exactMatch http://identifiers.org/mesh/C565593 property_value: exactMatch http://identifiers.org/snomedct/700242002 property_value: exactMatch https://omim.org/entry/225790 property_value: exactMatch Orphanet:221126 [Term] id: MONDO:0009173 name: congenital enteropathy due to enteropeptidase deficiency def: "A rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated." [Orphanet:168601] subset: ordo_disease {source="Orphanet:168601"} synonym: "congenital enterokinase deficiency" EXACT [Orphanet:168601] synonym: "enterokinase deficiency" RELATED [OMIM:226200] synonym: "enteropeptidase deficiency" RELATED [OMIM:226200] xref: DOID:0111667 {source="MONDO:equivalentTo"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562649 {source="MONDO:equivalentTo"} xref: OMIM:226200 {source="MONDO:equivalentTo", source="Orphanet:168601", source="Orphanet:168601/e"} xref: Orphanet:168601 {source="OMIM:226200", source="MONDO:equivalentTo"} xref: SCTID:190952002 {source="MONDO:equivalentTo"} xref: UMLS:C0268416 {source="OMIM:226200", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:168601"} is_a: EFO:0000405 {source="https://orcid.org/0000-0001-5208-3432"} ! digestive system disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch DOID:0111667 property_value: exactMatch http://identifiers.org/mesh/C562649 property_value: exactMatch http://identifiers.org/snomedct/190952002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268416 property_value: exactMatch https://omim.org/entry/226200 property_value: exactMatch Orphanet:168601 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0009176 name: epidermodysplasia verruciformis def: "A rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer." [https://orcid.org/0000-0001-5208-3432, Orphanet:302] subset: gard_rare {source="GARD:0006357"} subset: ordo_disease {source="Orphanet:302"} synonym: "epidermodysplasia verruciformis" EXACT [MONDO:Lexical] synonym: "EV" RELATED ABBREVIATION [MONDO:Lexical, OMIM:226400] synonym: "ever" RELATED [OMIM:226400] synonym: "Lewandowsky-Lutz dysplasia" EXACT [NCIT:C126877] synonym: "Lewandowsky-Lutz syndrome" EXACT [Orphanet:302] synonym: "Lutz-Lewandowsky epidermodysplasia verruciformis" EXACT [Orphanet:302] xref: DOID:13777 {source="MONDO:equivalentTo"} xref: ICD9:078.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:757.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10052339 {source="Orphanet:302", source="Orphanet:302/e"} xref: MESH:D004819 {source="Orphanet:302", source="DOID:13777", source="MONDO:equivalentTo", source="Orphanet:302/e"} xref: NCIT:C126877 {source="MONDO:equivalentTo"} xref: OMIMPS:226400 {source="MONDO:relatedTo"} xref: Orphanet:302 {source="OMIM:226400", source="MONDO:equivalentTo"} xref: SCTID:19138001 {source="DOID:13777", source="MONDO:equivalentTo"} xref: UMLS:C0014522 {source="Orphanet:302", source="DOID:13777", source="OMIM:226400", source="MONDO:equivalentTo", source="Orphanet:302/e", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C126877"} is_a: MONDO:0015135 {source="MONDO:0018033-obsoleted"} ! primary immunodeficiency due to a genetic defect in innate immunity is_a: MONDO:0100118 ! hereditary skin disorder property_value: closeMatch http://identifiers.org/meddra/10052339 property_value: exactMatch DOID:13777 property_value: exactMatch http://identifiers.org/mesh/D004819 property_value: exactMatch http://identifiers.org/snomedct/19138001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014522 property_value: exactMatch NCIT:C126877 property_value: exactMatch Orphanet:302 property_value: excluded_subClassOf MONDO:0006025 {source="DOID:13777"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6357/epidermodysplasia-verruciformis xsd:anyURI {source="GARD:0006357"} [Term] id: MONDO:0009177 name: late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome subset: ordo_disease {source="Orphanet:231556"} synonym: "epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders" RELATED [GARD:0000299] synonym: "epidermolysis bullosa, late-onset localised junctional, with intellectual disability" RELATED OMO:0003005 [] synonym: "epidermolysis bullosa, late-onset localised junctional, with mental retardation" RELATED OMO:0003005 [] synonym: "epidermolysis bullosa, late-onset localized junctional, with intellectual disability" RELATED [OMIM:226440] synonym: "epidermolysis bullosa, late-onset localized junctional, with mental retardation" RELATED DEPRECATED [OMIM:226440] xref: MESH:C535492 {source="MONDO:equivalentTo"} xref: OMIM:226440 {source="MONDO:equivalentTo", source="Orphanet:231556", source="Orphanet:231556/e"} xref: Orphanet:231556 {source="OMIM:226440", source="MONDO:equivalentTo"} xref: UMLS:C1856969 {source="OMIM:226440", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:231556", source="Orphanet:231556/e"} is_a: MONDO:0017612 {source="Orphanet:231556"} ! junctional epidermolysis bullosa property_value: exactMatch http://identifiers.org/mesh/C535492 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856969 property_value: exactMatch https://omim.org/entry/226440 property_value: exactMatch Orphanet:231556 [Term] id: MONDO:0009179 name: recessive dystrophic epidermolysis bullosa def: "Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement." [Orphanet:79408] subset: ordo_disease {source="Orphanet:79408"} synonym: "autosomal recessive dystrophic epidermolysis bullosa generalisata gravis" EXACT [DOID:0060642, Orphanet:79408] synonym: "autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type" EXACT [DOID:0060642, Orphanet:79408] synonym: "autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly)" RELATED [GARD:0006308] synonym: "dystrophic epidermolysis bullosa, autosomal recessive" RELATED [OMIM:226600] synonym: "EBD inversa" EXACT [OMIM:226600, OMIM:genemap2] synonym: "epidermolysis bullosa dystrophica inversa, autosomal recessive" RELATED [OMIM:226600] synonym: "epidermolysis bullosa dystrophica, AR" EXACT [OMIM:226600, OMIM:genemap2] synonym: "epidermolysis bullosa dystrophica, autosomal recessive" RELATED [MONDO:Lexical, OMIM:226600] synonym: "epidermolysis bullosa dystrophica, autosomal recessive, Localisata variant" RELATED [OMIM:226600] synonym: "epidermolysis bullosa dystrophica, autosomal recessive, modifier of" EXACT [OMIM:226600, OMIM:genemap2] synonym: "epidermolysis bullosa dystrophica, generalised severe, autosomal recessive" RELATED OMO:0003005 [] synonym: "epidermolysis bullosa dystrophica, generalized severe, autosomal recessive" RELATED [OMIM:226600] synonym: "epidermolysis bullosa dystrophica, Hallopeau-Siemens type" RELATED [OMIM:226600] synonym: "RDEB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:226600] synonym: "RDEB generalisata gravis" EXACT [Orphanet:79408] synonym: "RDEB, Hallopeau-Siemens type" EXACT [DOID:0060642, Orphanet:79408] synonym: "RDEB, severe generalised" RELATED OMO:0003005 [] synonym: "RDEB, severe generalized" RELATED [GARD:0006308] synonym: "RDEB-sev gen" EXACT [Orphanet:79408] synonym: "recessive dystrophic epidermolysis bullosa, severe generalised" RELATED OMO:0003005 [] synonym: "recessive dystrophic epidermolysis bullosa, severe generalized" RELATED [GARD:0006308] synonym: "severe generalised RDEB" NARROW OMO:0003005 [] synonym: "severe generalised recessive dystrophic epidermolysis bullosa" NARROW OMO:0003005 [] synonym: "severe generalized RDEB" NARROW [DOID:0060642, Orphanet:79408] synonym: "severe generalized recessive dystrophic epidermolysis bullosa" NARROW [DOID:0060642] xref: DOID:0060642 {source="MONDO:equivalentTo"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:226600 {source="DOID:0060642", source="MONDO:equivalentTo", source="Orphanet:79408", source="Orphanet:79408/e"} xref: Orphanet:79408 {source="DOID:0060642", source="MONDO:equivalentTo", source="OMIM:226600"} xref: SCTID:48528004 {source="MONDO:equivalentTo"} is_a: EFO:1000692 {source="DC-OMIM:226600", source="DOID:0060642", source="Orphanet:79408"} ! epidermolysis bullosa dystrophica property_value: exactMatch DOID:0060642 property_value: exactMatch http://identifiers.org/snomedct/48528004 property_value: exactMatch https://omim.org/entry/226600 property_value: exactMatch Orphanet:79408 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009180 name: junctional epidermolysis bullosa, non-Herlitz type def: "Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia." [Orphanet:89840] subset: ordo_disease {source="Orphanet:89840"} synonym: "epidermolysis bullosa Junctionalis, Disentis type" RELATED [OMIM:226650] synonym: "epidermolysis bullosa Junctionalis, non-Herlitz type" RELATED [OMIM:226650] synonym: "epidermolysis bullosa Junctionalis, progressive" RELATED [OMIM:226650] synonym: "epidermolysis bullosa Junctionalis, severe Nonlethal" RELATED [OMIM:226650] synonym: "epidermolysis bullosa, generalised atrophic benign" RELATED OMO:0003005 [] synonym: "epidermolysis bullosa, generalized atrophic benign" RELATED [OMIM:226650] synonym: "epidermolysis bullosa, junctional, Localisata variant" RELATED [OMIM:226650] synonym: "epidermolysis bullosa, junctional, non-Herlitz type" RELATED [OMIM:226650] synonym: "JEB-I" RELATED [OMIM:226650] synonym: "JEB-nH" RELATED [GARD:0002151] synonym: "JEN-nH" EXACT [Orphanet:89840] synonym: "junctional epidermolysis bullosa inversa" RELATED [OMIM:226650] xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:226650 {source="Orphanet:89840/e", source="MONDO:equivalentTo", source="Orphanet:89840"} xref: Orphanet:79405 {source="OMIM:226650", source="MONDO:directSiblingOf"} xref: Orphanet:89840 {source="OMIM:226650", source="MONDO:equivalentObsolete"} xref: SCTID:33662006 {source="MONDO:equivalentTo"} xref: UMLS:C2673609 {source="OMIM:226650", source="MONDO:directSiblingOf"} xref: UMLS:C2673610 {source="OMIM:226650", source="MONDO:directSiblingOf"} is_a: MONDO:0017612 {source="DC-OMIM:226650", source="Orphanet:89840"} ! junctional epidermolysis bullosa disjoint_from: MONDO:0009182 ! junctional epidermolysis bullosa Herlitz type property_value: exactMatch http://identifiers.org/snomedct/33662006 property_value: exactMatch https://omim.org/entry/226650 [Term] id: MONDO:0009181 name: epidermolysis bullosa simplex 5B, with muscular dystrophy def: "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy." [https://orcid.org/0000-0001-5208-3432, Orphanet:257] subset: gard_rare subset: ordo_disease {source="Orphanet:257"} synonym: "EBS-MD" EXACT [GARD:0002137, Orphanet:257] synonym: "EBSMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:226670] synonym: "Epidermolysa bullosa simplex and limb girdle muscular dystrophy" RELATED [GARD:0002137] synonym: "Epidermolysa bullosa simplex with muscular dystrophy" RELATED [GARD:0002137] synonym: "epidermolysis bullosa simplex - limb girdle muscular dystrophy" RELATED [GARD:0002137] synonym: "epidermolysis bullosa simplex 5B, with muscular dystrophy" EXACT [OMIM:226670, OMIM:genemap2] synonym: "epidermolysis bullosa simplex and limb-girdle muscular dystrophy" EXACT [DOID:0090017, OMIM:226670] synonym: "epidermolysis bullosa simplex with muscular dystrophy" EXACT [MONDO:Lexical, OMIM:226670] synonym: "limb-girdle muscular dystrophy with epidermolysis bullosa simplex" EXACT [DOID:0090017, Orphanet:257] synonym: "MD-EBS" RELATED [GARD:0002137, OMIM:226670] synonym: "MDEBS" RELATED ABBREVIATION [GARD:0002137] xref: DOID:0090017 {source="MONDO:equivalentTo"} xref: MESH:C535955 {source="MONDO:equivalentTo"} xref: OMIM:226670 {source="Orphanet:257", source="GARD:0002137", source="MONDO:equivalentTo", source="Orphanet:257/e", source="DOID:0090017"} xref: Orphanet:257 {source="OMIM:226670", source="GARD:0002137", source="MONDO:equivalentTo", source="DOID:0090017"} xref: SCTID:723308003 {source="MONDO:equivalentTo"} xref: UMLS:C2931072 {source="OMIM:226670", source="Orphanet:257", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease is_a: MONDO:0015152 {source="Orphanet:257"} ! autosomal recessive limb-girdle muscular dystrophy is_a: MONDO:0016198 {source="Orphanet:257"} ! qualitative or quantitative defects of plectin is_a: MONDO:0017610 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex property_value: exactMatch DOID:0090017 property_value: exactMatch http://identifiers.org/mesh/C535955 property_value: exactMatch http://identifiers.org/snomedct/723308003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931072 property_value: exactMatch https://omim.org/entry/226670 property_value: exactMatch Orphanet:257 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4499 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2137/epidermolysa-bullosa-simplex-with-muscular-dystrophy xsd:anyURI {source="GARD:0002137"} [Term] id: MONDO:0009182 name: junctional epidermolysis bullosa Herlitz type def: "Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes." [Orphanet:79404] subset: gard_rare {source="GARD:0002153"} subset: ordo_disease {source="Orphanet:79404"} synonym: "epidermolysis bullosa Junctionalis, Herlitz type" RELATED [OMIM:226700] synonym: "epidermolysis bullosa letalis" EXACT [DOID:0060737, Orphanet:79404] synonym: "epidermolysis bullosa, junctional, Herlitz type" RELATED [OMIM:226700] synonym: "epidermolysis bullosa, junctional, Herlitz-Pearson type" RELATED [OMIM:226700] synonym: "Herlitz type epidermolysis bullosa junctionalis" EXACT [DOID:0060737] synonym: "Herlitz-Pearson type epidermolysis bullosa" RELATED [GARD:0002153] synonym: "Herlitz-Pearson-type epidermolysis bullosa" EXACT [DOID:0060737, OMIM:226700] synonym: "JEB, generalised severe" EXACT OMO:0003005 [] synonym: "JEB, generalized severe" EXACT [Orphanet:79404] synonym: "JEB-H" EXACT [DOID:0060737, Orphanet:79404] synonym: "JEB-Herlitz type" EXACT [DOID:0060737, OMIM:226700] synonym: "junctional epidermolysis bullosa generalisata gravis" EXACT [DOID:0060737, Orphanet:79404] synonym: "junctional epidermolysis bullosa, generalised severe" RELATED OMO:0003005 [] synonym: "junctional epidermolysis bullosa, generalized severe" RELATED [Orphanet:79404] synonym: "junctional epidermolysis bullosa, Herlitz type" RELATED [GARD:0002153] synonym: "junctional epidermolysis bullosa, Herlitz-Pearson type" EXACT [DOID:0060737, Orphanet:79404] xref: DOID:0060737 {source="MONDO:equivalentTo"} xref: OMIM:226700 {source="Orphanet:79404", source="MONDO:equivalentTo", source="Orphanet:79404/e", source="DOID:0060737"} xref: Orphanet:79404 {source="MONDO:equivalentTo", source="OMIM:226700", source="DOID:0060737"} xref: SCTID:400140006 {source="MONDO:equivalentTo"} is_a: MONDO:0017612 {source="DC-OMIM:226700", source="DOID:0060737", source="Orphanet:79404"} ! junctional epidermolysis bullosa property_value: exactMatch DOID:0060737 property_value: exactMatch http://identifiers.org/snomedct/400140006 property_value: exactMatch https://omim.org/entry/226700 property_value: exactMatch Orphanet:79404 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2153/junctional-epidermolysis-bullosa-herlitz-type xsd:anyURI {source="GARD:0002153"} [Term] id: MONDO:0009183 name: junctional epidermolysis bullosa with pyloric atresia def: "Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract." [Orphanet:79403] subset: gard_rare {source="GARD:0009694"} subset: ordo_disease {source="Orphanet:79403"} synonym: "aplasia cutis congenita with gastrointestinal atresia" RELATED [OMIM:226730] synonym: "Carmi syndrome" EXACT [DOID:0060733, OMIM:226730, Orphanet:79403] synonym: "EB-Pa-ACC" RELATED [OMIM:226730] synonym: "epidermolysis bullosa JUNCTIONALIS with pyloric atresia" RELATED [OMIM:226730] synonym: "epidermolysis bullosa junctionalis with pyloric atresia" EXACT [DOID:0060733] synonym: "epidermolysis bullosa with pyloric atresia" RELATED [GARD:0009694] synonym: "epidermolysis bullosa, junctional, with pyloric atresia" RELATED [OMIM:226730] synonym: "epidermolysis bullosa, junctional, with pyloric atresia and aplasia cutis congenita" RELATED [OMIM:226730] synonym: "epidermolysis bullosa, junctional, with pyloric stenosis" EXACT [OMIM:226730, OMIM:genemap2] synonym: "JEB-PA" EXACT [DOID:0060733, Orphanet:79403] synonym: "JEB-Pa" RELATED [OMIM:226730] synonym: "junctional epidermolysis bullosa - pyloric atresia" RELATED [GARD:0009694] synonym: "junctional epidermolysis bullosa with pyloric atresia" EXACT [OMIM:226730] synonym: "junctional epidermolysis bullosa-pyloric atresia syndrome" EXACT [DOID:0060733] xref: DOID:0060733 {source="MONDO:equivalentTo"} xref: MESH:C535377 {source="MONDO:equivalentTo"} xref: OMIM:226730 {source="Orphanet:79403", source="MONDO:equivalentTo", source="Orphanet:79403/e", source="DOID:0060733"} xref: Orphanet:79403 {source="OMIM:226730", source="MONDO:equivalentTo", source="DOID:0060733"} xref: UMLS:C1856934 {source="Orphanet:79403", source="OMIM:226730", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0017612 {source="DOID:0060733", source="Orphanet:79403"} ! junctional epidermolysis bullosa property_value: exactMatch DOID:0060733 property_value: exactMatch http://identifiers.org/mesh/C535377 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856934 property_value: exactMatch https://omim.org/entry/226730 property_value: exactMatch Orphanet:79403 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9694/junctional-epidermolysis-bullosa-with-pyloric-atresia xsd:anyURI {source="GARD:0009694"} [Term] id: MONDO:0009185 name: amelocerebrohypohidrotic syndrome def: "Kohlschütter-TC6nz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia." [Orphanet:1946] subset: ordo_malformation_syndrome {source="Orphanet:1946"} synonym: "amelocerebrohypohidrotic syndrome" EXACT [] synonym: "epilepsy and Yellow teeth" RELATED [OMIM:226750] synonym: "epilepsy dementia amelogenesis imperfecta" RELATED [GARD:0003128] synonym: "epilepsy, dementia, and amelogenesis imperfecta" RELATED [OMIM:226750] synonym: "epilepsy-dementia-amelogenesis imperfecta syndrome" EXACT [Orphanet:1946] synonym: "Kohlschutter syndrome" RELATED [OMIM:226750] synonym: "Kohlschutter Tonz syndrome" RELATED [GARD:0003128] synonym: "KOHLSCHUTTER-Tonz syndrome" RELATED [MONDO:Lexical, OMIM:226750] synonym: "Kohlschutter-Tonz syndrome" EXACT [Orphanet:1946] synonym: "KTZS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:226750] xref: DOID:0111668 {source="MONDO:equivalentTo"} xref: MESH:C537213 {source="MONDO:equivalentTo"} xref: OMIM:226750 {source="Orphanet:1946/e", source="MONDO:equivalentTo", source="Orphanet:1946"} xref: Orphanet:1946 {source="OMIM:226750", source="MONDO:equivalentTo"} xref: SCTID:109478007 {source="MONDO:equivalentTo"} xref: UMLS:C0406740 {source="OMIM:226750", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1946"} is_a: MONDO:0019287 {source="Orphanet:1946"} ! ectodermal dysplasia syndrome property_value: exactMatch DOID:0111668 property_value: exactMatch http://identifiers.org/mesh/C537213 property_value: exactMatch http://identifiers.org/snomedct/109478007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406740 property_value: exactMatch https://omim.org/entry/226750 property_value: exactMatch Orphanet:1946 [Term] id: MONDO:0009188 name: epilepsy-telangiectasia syndrome def: "Epilepsy telangiectasia syndrome is characterized by intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait." [Orphanet:1951] subset: ordo_disease {source="Orphanet:1951"} synonym: "epilepsy telangiectasia" RELATED [GARD:0002168] synonym: "epilepsy-telangiectasia" RELATED [OMIM:226850] synonym: "intellectual disability, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency" RELATED [GARD:0002168] synonym: "mental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency" RELATED DEPRECATED [GARD:0002168] xref: MESH:C535497 {source="MONDO:equivalentTo", source="Orphanet:1951", source="Orphanet:1951/e"} xref: OMIM:226850 {source="MONDO:equivalentTo", source="Orphanet:1951", source="Orphanet:1951/e"} xref: Orphanet:1951 {source="OMIM:226850", source="MONDO:equivalentTo"} xref: UMLS:C1856929 {source="OMIM:226850", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1951", source="Orphanet:1951/e"} is_a: MONDO:0015159 {source="Orphanet:1951"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C535497 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856929 property_value: exactMatch https://omim.org/entry/226850 property_value: exactMatch Orphanet:1951 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1951"} property_value: excluded_subClassOf MONDO:0015650 {source="Orphanet:1951"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0009189 name: multiple epiphyseal dysplasia type 4 def: "Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum." [Orphanet:93307] subset: ordo_disease {source="Orphanet:93307"} synonym: "autosomal recessive multiple epiphyseal dysplasia" EXACT [Orphanet:93307] synonym: "EDM4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:226900, Orphanet:93307] synonym: "epiphyseal dysplasia multiple 4" RELATED [GARD:0009793] synonym: "epiphyseal dysplasia, multiple, 4" RELATED [MONDO:Lexical, OMIM:226900] synonym: "epiphyseal dysplasia, multiple, type 4" EXACT [MONDORULE:1, OMIM:226900] synonym: "MED4" EXACT ABBREVIATION [Orphanet:93307] synonym: "multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2" EXACT [] synonym: "multiple epiphyseal dysplasia 4" RELATED [GARD:0009793] synonym: "multiple epiphyseal dysplasia with Bilayered patellae" RELATED [OMIM:226900] synonym: "multiple epiphyseal dysplasia with clubfoot" RELATED [OMIM:226900] synonym: "multiple epiphyseal dysplasia with double-layered patella" RELATED [GARD:0009793] synonym: "multiple epiphyseal dysplasia, autosomal recessive" RELATED [OMIM:226900] synonym: "Polyepiphyseal dysplasia type 4" EXACT [Orphanet:93307] synonym: "rMED" EXACT [Orphanet:93307] synonym: "SLC26A2 multiple epiphyseal dysplasia (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0070300 {source="MONDO:equivalentTo"} xref: ICD10CM:Q77.3 {source="MONDO:relatedTo", source="Orphanet:93307/attributed", source="Orphanet:93307/ntbt", source="Orphanet:93307"} xref: MESH:C535504 {source="Orphanet:93307/e", source="MONDO:equivalentTo", source="Orphanet:93307"} xref: OMIM:226900 {source="Orphanet:93307/e", source="MONDO:equivalentTo", source="Orphanet:93307"} xref: Orphanet:93307 {source="MONDO:equivalentTo", source="OMIM:226900"} xref: SCTID:715672007 {source="MONDO:equivalentTo"} xref: UMLS:C1847593 {source="Orphanet:93307/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:226900", source="Orphanet:93307"} is_a: MONDO:0016648 {source="DC-OMIM:226900", source="MONDO:Redundant", source="OMIM:226900", source="Orphanet:93307"} ! multiple epiphyseal dysplasia is_a: MONDO:0019688 {source="Orphanet:93307", source="PMID:31633310"} ! sulfation-related bone disorder property_value: exactMatch DOID:0070300 property_value: exactMatch http://identifiers.org/mesh/C535504 property_value: exactMatch http://identifiers.org/snomedct/715672007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847593 property_value: exactMatch https://omim.org/entry/226900 property_value: exactMatch Orphanet:93307 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0009191 name: Lowry-Wood syndrome def: "Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive." [Orphanet:1824] subset: gard_rare {source="GARD:0000264"} subset: ordo_disease {source="Orphanet:1824"} synonym: "epiphyseal dysplasia, microcephaly and nystagmus" RELATED [GARD:0000264] synonym: "epiphyseal dysplasia, microcephaly, and NYSTAGMUS" RELATED [OMIM:226960] synonym: "epiphyseal dysplasia-microcephaly-nystagmus syndrome" EXACT [Orphanet:1824] synonym: "Lowry Wood syndrome" RELATED [GARD:0000264] synonym: "Lowry-Wood syndrome" EXACT [OMIM:226960] synonym: "LWS" RELATED ABBREVIATION [GARD:0000264] xref: MedDRA:10062600 {source="Orphanet:1824/e", source="Orphanet:1824"} xref: MESH:C537038 {source="Orphanet:1824/e", source="MONDO:equivalentTo", source="Orphanet:1824"} xref: OMIM:226960 {source="Orphanet:1824/e", source="MONDO:equivalentTo", source="Orphanet:1824"} xref: Orphanet:1824 {source="OMIM:226960", source="MONDO:equivalentTo"} xref: SCTID:721975004 {source="MONDO:equivalentTo"} xref: UMLS:C0796021 {source="Orphanet:1824/e", source="OMIM:226960", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1824"} is_a: MONDO:0019692 {source="Orphanet:1824"} ! multiple epiphyseal dysplasia and pseudoachondroplasia is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder property_value: closeMatch http://identifiers.org/meddra/10062600 property_value: exactMatch http://identifiers.org/mesh/C537038 property_value: exactMatch http://identifiers.org/snomedct/721975004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796021 property_value: exactMatch https://omim.org/entry/226960 property_value: exactMatch Orphanet:1824 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/264/lowry-wood-syndrome xsd:anyURI {source="GARD:0000264"} [Term] id: MONDO:0009192 name: Wolcott-Rallison syndrome def: "Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure." [Orphanet:1667] subset: gard_rare subset: ordo_disease {source="Orphanet:1667"} synonym: "early-onset diabetes mellitus with multiple epiphyseal dysplasia" EXACT [Orphanet:1667] synonym: "epiphyseal dysplasia multiple with early-onset diabetes mellitus" RELATED [GARD:0005589] synonym: "epiphyseal dysplasia, multiple, with early-onset diabetes mellitus" RELATED [OMIM:226980] synonym: "IDDM-MED syndrome" RELATED [GARD:0005589] synonym: "Iddm-Med syndrome" RELATED [OMIM:226980] synonym: "MED-IDDM syndrome" RELATED [GARD:0005589] synonym: "Med-Iddm syndrome" RELATED [OMIM:226980] synonym: "Wolcott Rallison syndrome" RELATED [GARD:0005589] synonym: "Wolcott-Rallison syndrome" EXACT [OMIM:226980] synonym: "WRS" EXACT ABBREVIATION [Orphanet:1667] xref: DOID:0090060 {source="MONDO:equivalentTo"} xref: MESH:C536739 {source="MONDO:equivalentTo", source="Orphanet:1667", source="Orphanet:1667/e"} xref: NCIT:C131007 {source="MONDO:equivalentTo"} xref: OMIM:226980 {source="GARD:0005589", source="MONDO:equivalentTo", source="Orphanet:1667", source="DOID:0090060", source="Orphanet:1667/e"} xref: Orphanet:1667 {source="GARD:0005589", source="OMIM:226980", source="MONDO:equivalentTo", source="DOID:0090060"} xref: SCTID:254066006 {source="MONDO:equivalentTo"} xref: UMLS:C0432217 {source="NCIT:C131007", source="GARD:0005589", source="OMIM:226980", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1667", source="Orphanet:1667/e"} is_a: EFO:1000017 {source="DOID:0090060", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0002254 {source="MONDO:cjm", source="NCIT:C131007"} ! syndromic disease is_a: MONDO:0016761 {source="Orphanet:1667", source="PMID:31633310"} ! spondyloepiphyseal dysplasia property_value: exactMatch DOID:0090060 property_value: exactMatch http://identifiers.org/mesh/C536739 property_value: exactMatch http://identifiers.org/snomedct/254066006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432217 property_value: exactMatch https://omim.org/entry/226980 property_value: exactMatch NCIT:C131007 property_value: exactMatch Orphanet:1667 property_value: excluded_subClassOf MONDO:0005015 {source="MONDO:0015888-obsoleted", source="MONDO:Redundant", source="Orphanet:1667"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5723 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5589/epiphyseal-dysplasia-multiple-with-early-onset-diabetes-mellitus xsd:anyURI {source="GARD:0005589"} [Term] id: MONDO:0009196 name: ermine phenotype def: "A rare deafness characterized by the association of bilateral sensorineural hearing loss and white hair with scattered black tufts, as well as skin areas of hyper- and hypopigmentation. Additional reported features include global developmental delay and moderate intellectual disability, growth retardation, microcephaly, hypotonia, mild dysmorphic facial features (deeply set eyes, broad nasal bridge, slight bowing of the upper lip), retinal depigmentation, anomalies of the fingers and toes, and white matter abnormalities on brain imaging." [Orphanet:999] subset: gard_rare {source="GARD:0000407"} subset: ordo_malformation_syndrome {source="Orphanet:999"} synonym: "BADS" RELATED ABBREVIATION [OMIM:227010] synonym: "BADS syndrome" RELATED [MESH:C562663] synonym: "black locks with albinism and deafness syndrome" RELATED [MESH:C562663, OMIM:227010] synonym: "black locks, oculocutaneous albinism, and deafness of the sensorineural type" RELATED [] synonym: "ermine phenotype" EXACT [OMIM:227010] synonym: "O'Doherty syndrome" EXACT [Orphanet:999] synonym: "pigmentary disorder with hearing loss" EXACT [OMIM:227010, Orphanet:999] xref: ICD10CM:E70.3 {source="Orphanet:999/attributed", source="Orphanet:999/ntbt", source="MONDO:relatedTo", source="Orphanet:999"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:82812 {source="UMLS:C0268501"} xref: MESH:C535508 {source="Orphanet:999", source="MONDO:equivalentTo", source="Orphanet:999/e"} xref: MESH:C562663 {source="MONDO:equivalentTo", source="UMLS:C0268501"} xref: OMIM:227010 {source="Orphanet:999", source="MONDO:equivalentTo", source="UMLS:C0268501", source="Orphanet:999/e"} xref: Orphanet:999 {source="MONDO:equivalentTo", source="OMIM:227010"} xref: SCTID:10170007 {source="MONDO:equivalentTo", source="UMLS:C0268501"} xref: UMLS:C0268501 {source="MONDO:equivalentTo", source="OMIM:227010"} xref: UMLS:C1856899 {source="Orphanet:999", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:999/e", source="OMIM:227010"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: closeMatch http://identifiers.org/medgen/82812 property_value: exactMatch http://identifiers.org/mesh/C535508 property_value: exactMatch http://identifiers.org/mesh/C562663 property_value: exactMatch http://identifiers.org/snomedct/10170007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268501 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856899 property_value: exactMatch https://omim.org/entry/227010 property_value: exactMatch Orphanet:999 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/407/ermine-phenotype xsd:anyURI {source="GARD:0000407"} [Term] id: MONDO:0009198 name: congenital lethal erythroderma def: "A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992." [Orphanet:1954] subset: gard_rare {source="GARD:0002192"} subset: ordo_disease {source="Orphanet:1954"} synonym: "congenital exfoliative erythroderma resistant to treatment" RELATED [GARD:0002192] synonym: "erythroderma lethal congenital" RELATED [GARD:0002192] synonym: "erythroderma, lethal congenital" RELATED [OMIM:227090] synonym: "lethal congenital erythroderma" RELATED [GARD:0002192] xref: MESH:C535513 {source="MONDO:equivalentTo", source="Orphanet:1954", source="Orphanet:1954/e"} xref: OMIM:227090 {source="MONDO:equivalentTo", source="Orphanet:1954", source="Orphanet:1954/e"} xref: Orphanet:1954 {source="MONDO:equivalentTo", source="OMIM:227090"} xref: SCTID:722391005 {source="MONDO:equivalentTo"} is_a: EFO:0000701 {source="Orphanet:1954", source="https://orcid.org/0000-0001-5208-3432"} ! skin disease property_value: exactMatch http://identifiers.org/mesh/C535513 property_value: exactMatch http://identifiers.org/snomedct/722391005 property_value: exactMatch https://omim.org/entry/227090 property_value: exactMatch Orphanet:1954 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2192/erythroderma-lethal-congenital xsd:anyURI {source="GARD:0002192"} [Term] id: MONDO:0009200 name: eyebrow duplication-syndactyly syndrome def: "Eyebrow duplication-syndactyly syndrome is characterized by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive." [Orphanet:3172] subset: ordo_malformation_syndrome {source="Orphanet:3172"} synonym: "eyebrows duplication of, with stretchable skin and syndactyly" RELATED [GARD:0002216] synonym: "eyebrows, DUPLICATION of, with stretchable skin and syndactyly" RELATED [OMIM:227210] xref: MESH:C536383 {source="MONDO:equivalentTo"} xref: OMIM:227210 {source="Orphanet:3172/e", source="MONDO:equivalentTo", source="Orphanet:3172"} xref: Orphanet:3172 {source="OMIM:227210", source="MONDO:equivalentTo"} xref: UMLS:C1856896 {source="OMIM:227210", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3172"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: exactMatch http://identifiers.org/mesh/C536383 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856896 property_value: exactMatch https://omim.org/entry/227210 property_value: exactMatch Orphanet:3172 [Term] id: MONDO:0009203 name: focal facial dermal dysplasia type III def: "Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis." [Orphanet:1807] subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:1807"} synonym: "bitemporal forceps Marks syndrome" RELATED [OMIM:227260] synonym: "bitemporal forceps marks syndrome" RELATED [GARD:0000121] synonym: "facial ectodermal dysplasia" RELATED [OMIM:227260] synonym: "FFDD type 2" RELATED [GARD:0000121] synonym: "FFDD type III" EXACT [Orphanet:1807] synonym: "FFDD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:227260, Orphanet:1807] synonym: "focal facial dermal dysplasia 3, Setleis type" EXACT [MONDO:Lexical, OMIM:227260, Orphanet:1807] synonym: "focal facial dermal dysplasia type 2" RELATED [GARD:0000121] synonym: "focal facial dermal dysplasia type III" EXACT [] synonym: "focal Facial dermal dysplasia, type II" RELATED [OMIM:227260] synonym: "focal Facial dermal dysplasia, type II, formerly" RELATED [OMIM:227260] synonym: "Setleis syndrome" EXACT [GARD:0000121, OMIM:227260, Orphanet:1807] xref: OMIM:227260 {source="GARD:0000121", source="Orphanet:1807", source="MONDO:equivalentTo", source="Orphanet:1807/e"} xref: Orphanet:1807 {source="GARD:0000121", source="MONDO:equivalentTo", source="OMIM:227260"} xref: SCTID:403771007 {source="MONDO:equivalentTo"} is_a: MONDO:0018363 {source="DC-OMIM:227260", source="OMIM:227260", source="Orphanet:1807"} ! focal facial dermal dysplasia property_value: exactMatch http://identifiers.org/snomedct/403771007 property_value: exactMatch https://omim.org/entry/227260 property_value: exactMatch Orphanet:1807 [Term] id: MONDO:0009204 name: lethal faciocardiomelic dysplasia def: "Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome." [Orphanet:1972] subset: gard_rare {source="GARD:0002229"} subset: ordo_malformation_syndrome {source="Orphanet:1972"} synonym: "faciocardiomelic dysplasia lethal" RELATED [GARD:0002229] synonym: "faciocardiomelic dysplasia, lethal" RELATED [OMIM:227270] xref: MESH:C565578 {source="MONDO:equivalentTo"} xref: OMIM:227270 {source="Orphanet:1972", source="MONDO:equivalentTo", source="Orphanet:1972/e"} xref: Orphanet:1972 {source="MONDO:equivalentTo", source="OMIM:227270"} xref: SCTID:719400000 {source="MONDO:equivalentTo"} xref: UMLS:C1856891 {source="Orphanet:1972", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:227270"} is_a: MONDO:0015160 {source="Orphanet:1972"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation property_value: exactMatch http://identifiers.org/mesh/C565578 property_value: exactMatch http://identifiers.org/snomedct/719400000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856891 property_value: exactMatch https://omim.org/entry/227270 property_value: exactMatch Orphanet:1972 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2229/faciocardiomelic-dysplasia-lethal xsd:anyURI {source="GARD:0002229"} [Term] id: MONDO:0009205 name: faciocardiorenal syndrome def: "Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects." [Orphanet:1973] subset: gard_rare {source="GARD:0002230"} subset: ordo_malformation_syndrome {source="Orphanet:1973"} synonym: "Eastman Bixler syndrome" RELATED [GARD:0002230] synonym: "Eastman-Bixler syndrome" EXACT [OMIM:227280, Orphanet:1973] synonym: "faciocardiorenal syndrome" EXACT [OMIM:227280] xref: MESH:C536388 {source="MONDO:equivalentTo", source="Orphanet:1973", source="Orphanet:1973/e"} xref: OMIM:227280 {source="MONDO:equivalentTo", source="Orphanet:1973", source="Orphanet:1973/e"} xref: Orphanet:1973 {source="MONDO:equivalentTo", source="OMIM:227280"} xref: SCTID:723333000 {source="MONDO:equivalentTo"} xref: UMLS:C0795936 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1973", source="OMIM:227280", source="Orphanet:1973/e"} is_a: MONDO:0015159 {source="Orphanet:1973"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C536388 property_value: exactMatch http://identifiers.org/snomedct/723333000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795936 property_value: exactMatch https://omim.org/entry/227280 property_value: exactMatch Orphanet:1973 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2230/faciocardiorenal-syndrome xsd:anyURI {source="GARD:0002230"} [Term] id: MONDO:0009206 name: factor V and factor VIII, combined deficiency of, type 1 def: "Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the LMAN1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "combined deficiency of factor V and factor VIII caused by mutation in LMAN1" EXACT [MONDO:design_pattern] synonym: "combined factor V and VIII deficiency" EXACT [OMIM:227300, OMIM:genemap2] synonym: "F5F8D1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:227300] synonym: "factor 5 and Factor VIII, combined deficiency of, 1" EXACT [MONDORULE:1, OMIM:227300] synonym: "factor V and factor VIII, combined deficiency of, 1" RELATED [MONDO:Lexical, OMIM:227300] synonym: "factor V and factor VIII, combined deficiency of, type 1" EXACT [] synonym: "familial multiple coagulation Factor deficiency 1" RELATED [OMIM:227300] synonym: "FMFD 1" RELATED [OMIM:227300] synonym: "LMAN1 combined deficiency of factor V and factor VIII" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "multiple coagulation Factor deficiency 1" RELATED [OMIM:227300] xref: OMIM:227300 {source="MONDO:equivalentTo"} xref: SCTID:84048006 {source="MONDO:equivalentTo"} is_a: MONDO:0018175 {source="DC-OMIM:227300", source="MONDO:Redundant"} ! combined deficiency of factor V and factor VIII property_value: exactMatch http://identifiers.org/snomedct/84048006 property_value: exactMatch https://omim.org/entry/227300 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009209 name: autosomal recessive faciodigitogenital syndrome def: "Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum." [Orphanet:1974] subset: ordo_malformation_syndrome {source="Orphanet:1974"} synonym: "Aarskog-like syndrome" EXACT [OMIM:227330, Orphanet:1974] synonym: "facio-digito-genital syndrome, Kuwait type" EXACT [Orphanet:1974] synonym: "faciodigitogenital syndrome, autosomal recessive" RELATED [OMIM:227330] synonym: "Kuwait type faciodigitogenital syndrome" RELATED [OMIM:227330] synonym: "Teebi-Naguib-Alawadi syndrome" EXACT [Orphanet:1974] xref: OMIM:227330 {source="MONDO:equivalentTo", source="Orphanet:1974", source="Orphanet:1974/e"} xref: Orphanet:1974 {source="OMIM:227330", source="MONDO:equivalentTo"} is_a: EFO:1000017 {source="MONDO:Redundant", source="MONDO:cjm"} ! autosomal recessive disease is_a: MONDO:0015161 {source="Orphanet:1974"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0021005 {source="MONDO:cjm"} ! faciodigitogenital syndrome property_value: exactMatch https://omim.org/entry/227330 property_value: exactMatch Orphanet:1974 [Term] id: MONDO:0009210 name: congenital factor V deficiency def: "Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms." [Orphanet:326] subset: gard_rare {source="GARD:0002237"} subset: ordo_disease {source="Orphanet:326"} synonym: "congenital factor V deficiency" EXACT [] synonym: "deficiency, labile" EXACT [DOID:2216] synonym: "factor 5 deficiency" RELATED [OMIM:227400] synonym: "factor V deficiency" RELATED [OMIM:227400] synonym: "hereditary Factor V deficiency" EXACT [NCIT:C98938] synonym: "hereditary factor V deficiency" EXACT [MONDO:patterns/hereditary] synonym: "hereditary hypoproaccelerinaemia" EXACT [DOID:2216] synonym: "labile Factor deficiency" RELATED [OMIM:227400] synonym: "labile factor deficiency" EXACT [DOID:2216] synonym: "Owren disease" EXACT [Orphanet:326] synonym: "Owren Parahemophilia" RELATED [OMIM:227400] synonym: "Parahemophilia" EXACT [OMIM:227400, Orphanet:326] synonym: "Proaccelerin deficiency" EXACT [DOID:2216, Orphanet:326] xref: DOID:2216 {source="MONDO:equivalentTo"} xref: MedDRA:10048930 {source="Orphanet:326", source="Orphanet:326/e"} xref: NCIT:C98938 {source="MONDO:equivalentTo", source="DOID:2216"} xref: OMIM:227400 {source="Orphanet:326", source="MONDO:equivalentTo", source="Orphanet:326/e", source="DOID:2216"} xref: Orphanet:326 {source="OMIM:227400", source="MONDO:equivalentTo"} xref: SCTID:88776002 {source="MONDO:equivalentTo", source="DOID:2216"} xref: UMLS:C0015499 {source="Orphanet:326", source="NCIT:C98938", source="OMIM:227400", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:326/e", source="DOID:2216"} is_a: MONDO:0002243 ! hemorrhagic disease is_a: MONDO:0020586 ! factor V deficiency is_a: MONDO:0021181 ! inherited blood coagulation disorder intersection_of: MONDO:0020586 ! factor V deficiency intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: closeMatch http://identifiers.org/meddra/10048930 property_value: exactMatch DOID:2216 property_value: exactMatch http://identifiers.org/snomedct/88776002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015499 property_value: exactMatch https://omim.org/entry/227400 property_value: exactMatch NCIT:C98938 property_value: exactMatch Orphanet:326 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5537 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2237/factor-v-deficiency xsd:anyURI {source="GARD:0002237"} [Term] id: MONDO:0009211 name: congenital factor VII deficiency def: "Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor." [Orphanet:327] subset: ordo_disease {source="Orphanet:327"} synonym: "congenital factor VII deficiency" EXACT [] synonym: "congenital proconvertin deficiency" EXACT [Orphanet:327] synonym: "F7 deficiency" RELATED [OMIM:227500] synonym: "factor 7 deficiency" RELATED [GARD:0002238, OMIM:227500] synonym: "factor VII deficiency" RELATED [OMIM:227500] synonym: "hypoproconvertinemia" EXACT [OMIM:227500, Orphanet:327] xref: DOID:2215 {source="MONDO:equivalentTo"} xref: MedDRA:10016079 {source="Orphanet:327", source="Orphanet:327/e"} xref: NCIT:C131631 {source="MONDO:equivalentTo"} xref: OMIM:227500 {source="Orphanet:327", source="MONDO:equivalentTo", source="Orphanet:327/e"} xref: Orphanet:327 {source="OMIM:227500", source="MONDO:equivalentTo"} xref: UMLS:C1394919 {source="MONDO:equivalentTo"} is_a: MONDO:0002244 {source="MONDO:cjm"} ! factor VII deficiency is_a: MONDO:0015722 {source="Orphanet:327"} ! congenital vitamin K-dependent coagulation factors deficiency property_value: closeMatch http://identifiers.org/meddra/10016079 property_value: exactMatch DOID:2215 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1394919 property_value: exactMatch https://omim.org/entry/227500 property_value: exactMatch NCIT:C131631 property_value: exactMatch Orphanet:327 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0009212 name: congenital factor X deficiency def: "Congenital factor X deficiency is an inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms." [Orphanet:328] subset: ordo_disease {source="Orphanet:328"} synonym: "congenital factor X deficiency" EXACT [] synonym: "congenital Stuart factor deficiency" EXACT [Orphanet:328] synonym: "disease, Stuart-Prower" EXACT [DOID:2222] synonym: "F10 deficiency" RELATED [OMIM:227600] synonym: "factor 10 deficiency" RELATED [OMIM:227600] synonym: "factor X deficiency" RELATED [OMIM:227600] synonym: "factor X deficiency, congenital" RELATED [GARD:0006404] synonym: "hereditary Factor X deficiency" EXACT [NCIT:C98940] synonym: "Stuart factor deficiency, congenital" RELATED [GARD:0006404] synonym: "Stuart-Prower Factor deficiency" RELATED [OMIM:227600] synonym: "Stuart-Prower factor deficiency" EXACT [Orphanet:328] xref: DOID:2222 {source="MONDO:equivalentTo"} xref: ICD9:286.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C98940 {source="MONDO:equivalentTo"} xref: OMIM:227600 {source="Orphanet:328", source="MONDO:equivalentTo", source="Orphanet:328/e"} xref: Orphanet:328 {source="MONDO:equivalentTo", source="OMIM:227600"} xref: SCTID:37350004 {source="https://github.com/monarch-initiative/mondo/issues/2944", source="MONDO:equivalentTo"} is_a: MONDO:0002247 {source="MONDO:cjm", source="NCIT:C98940"} ! factor X deficiency is_a: MONDO:0015722 {source="Orphanet:328"} ! congenital vitamin K-dependent coagulation factors deficiency property_value: exactMatch DOID:2222 property_value: exactMatch http://identifiers.org/snomedct/37350004 property_value: exactMatch https://omim.org/entry/227600 property_value: exactMatch NCIT:C98940 property_value: exactMatch Orphanet:328 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0009213 name: Fanconi anemia complementation group C def: "Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA." [NCIT:C125704] synonym: "FA3" EXACT ABBREVIATION [DOID:0111087] synonym: "FACC" EXACT ABBREVIATION [DOID:0111087] synonym: "facc" RELATED [OMIM:227645] synonym: "FANCC" EXACT ABBREVIATION [DOID:0111087, MONDO:Lexical, OMIM:227645] synonym: "Fanconi anaemia complementation group type C" EXACT OMO:0003005 [] synonym: "Fanconi anemia complementation group C" EXACT [] synonym: "Fanconi anemia complementation group type C" EXACT [DOID:0111087, MONDORULE:1] synonym: "Fanconi anemia, complementation group C" RELATED [MONDO:Lexical, OMIM:227645] synonym: "Fanconi Anemia, complementation group type C" EXACT [MONDORULE:1, OMIM:227645] synonym: "Fanconi pancytopenia type 3" EXACT [DOID:0111087] synonym: "Fanconi pancytopenia, type 3" RELATED [OMIM:227645] xref: DOID:0111087 {source="MONDO:equivalentTo"} xref: NCIT:C125704 {source="MONDO:equivalentTo"} xref: OMIM:227645 {source="MONDO:equivalentTo", source="DOID:0111087"} xref: UMLS:C3468041 {source="MONDO:equivalentTo", source="OMIM:227645", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C125704"} is_a: MONDO:0019391 {source="DC-OMIM:227645", source="DOID:0111087", source="NCIT:C125704", source="OMIM:227645"} ! Fanconi anemia property_value: exactMatch DOID:0111087 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3468041 property_value: exactMatch https://omim.org/entry/227645 property_value: exactMatch NCIT:C125704 [Term] id: MONDO:0009214 name: Fanconi anemia complementation group D2 def: "Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing." [NCIT:C125706] synonym: "FA4" EXACT ABBREVIATION [DOID:0111083] synonym: "FAD2" EXACT ABBREVIATION [DOID:0111083] synonym: "Fad2" RELATED [OMIM:227646] synonym: "FANCD2" EXACT ABBREVIATION [DOID:0111083, MONDO:Lexical, OMIM:227646] synonym: "Fanconi anemia complementation group D2" EXACT [] synonym: "Fanconi Anemia, complementation group D" RELATED [OMIM:227646] synonym: "Fanconi anemia, complementation group D2" RELATED [MONDO:Lexical, OMIM:227646] synonym: "Fanconi pancytopenia type 4" EXACT [DOID:0111083] synonym: "Fanconi pancytopenia, type 4" RELATED [OMIM:227646] xref: DOID:0111083 {source="MONDO:equivalentTo"} xref: NCIT:C125706 {source="MONDO:equivalentTo"} xref: OMIM:227646 {source="DOID:0111083", source="MONDO:equivalentTo"} xref: UMLS:C3160738 {source="NCIT:C125706", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:227646"} is_a: MONDO:0019391 {source="DC-OMIM:227646", source="DOID:0111083", source="NCIT:C125706", source="OMIM:227646"} ! Fanconi anemia property_value: exactMatch DOID:0111083 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3160738 property_value: exactMatch https://omim.org/entry/227646 property_value: exactMatch NCIT:C125706 [Term] id: MONDO:0009216 name: glycogen storage disease due to GLUT2 deficiency def: "Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism." [Orphanet:2088] subset: gard_rare subset: ordo_disease {source="Orphanet:2088"} synonym: "Bickel-Fanconi glycogenosis" EXACT [Orphanet:2088] synonym: "Fanconi Bickel syndrome" EXACT [GARD:0002268] synonym: "Fanconi syndrome with intestinal malabsorption and galactose intolerance" EXACT [GARD:0002268, OMIM:227810] synonym: "Fanconi-Bickel disease" EXACT [Orphanet:2088] synonym: "Fanconi-Bickel syndrome" EXACT [MONDO:Lexical, OMIM:227810] synonym: "FBS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:227810] synonym: "GLUT2 deficiency" RELATED [GARD:0002268] synonym: "glycogen storage disease 11" RELATED AMBIGUOUS [OMIM:227810] synonym: "glycogen storage disease due to GLUT2 deficiency" EXACT [GARD:0002268] synonym: "glycogen storage disease type 11" RELATED AMBIGUOUS [Orphanet:2088] synonym: "glycogen storage disease type XI" RELATED AMBIGUOUS [Orphanet:2088] synonym: "glycogen storage disease XI" RELATED [GARD:0002268] synonym: "glycogenosis due to GLUT2 deficiency" EXACT [Orphanet:2088] synonym: "glycogenosis Fanconi EXACT" RELATED [GARD:0002268] synonym: "glycogenosis, Fanconi type" RELATED [OMIM:227810] synonym: "GSD due to GLUT2 deficiency" EXACT [Orphanet:2088] synonym: "GSD type 11" RELATED AMBIGUOUS [Orphanet:2088] synonym: "GSD type XI" RELATED AMBIGUOUS [Orphanet:2088] synonym: "hepatic glycogenosis with amino aciduria and glucosuria" RELATED [GARD:0002268, OMIM:227810] synonym: "hepatic glycogenosis with Fanconi nephropathy" RELATED [OMIM:227810] synonym: "hepatorenal glycogenosis with renal Fanconi syndrome" RELATED [GARD:0002268, OMIM:227810] synonym: "hepatorenal glycogenosis with renal fanconi syndrome" RELATED [GARD:0002268] synonym: "pseudo-phlorizin diabetes" RELATED [GARD:0002268, OMIM:227810] xref: OMIM:227810 {source="Orphanet:2088", source="GARD:0002268", source="MONDO:equivalentTo", source="Orphanet:2088/e"} xref: Orphanet:2088 {source="GARD:0002268", source="MONDO:equivalentTo", source="OMIM:227810"} xref: SCTID:61598006 {source="MONDO:equivalentTo"} is_a: MONDO:0002412 {source="Orphanet:2088"} ! disorder of glycogen metabolism relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare property_value: exactMatch http://identifiers.org/snomedct/61598006 property_value: exactMatch https://omim.org/entry/227810 property_value: exactMatch Orphanet:2088 property_value: excluded_subClassOf MONDO:0005066 {source="Orphanet:2088"} property_value: excluded_subClassOf MONDO:0017706 {source="PMID:33340416"} property_value: excluded_subClassOf MONDO:0019226 {source="Orphanet:2088"} property_value: excluded_subClassOf MONDO:0019743 {source="Orphanet:2088"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2268/fanconi-bickel-syndrome xsd:anyURI {source="GARD:0002268"} [Term] id: MONDO:0009218 name: Farber lipogranulomatosis def: "A rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement." [Orphanet:333] subset: ordo_disease {source="Orphanet:333"} synonym: "AC deficiency" RELATED [OMIM:228000] synonym: "acid ceramidase deficiency" EXACT [DOID:0050464, OMIM:228000, Orphanet:333] synonym: "ceramidase deficiency" RELATED [OMIM:228000] synonym: "Farber disease" EXACT [DOID:0050464, OMIM:228000] synonym: "Farber lipogranulomatosis" EXACT [MONDO:Lexical, OMIM:228000, Orphanet:333] synonym: "Farber's disease" RELATED [GARD:0006426] synonym: "FRBRL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:228000] synonym: "N-LAURYLSPHINGOSINE deacylase deficiency" EXACT [DOID:0050464] synonym: "N-Laurylsphingosine deacylase deficiency" RELATED [OMIM:228000] xref: DOID:0050464 {source="MONDO:equivalentTo"} xref: ICD9:272.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D055577 {source="DOID:0050464", source="Orphanet:333/e", source="MONDO:equivalentTo", source="Orphanet:333"} xref: NCIT:C84710 {source="DOID:0050464", source="MONDO:equivalentTo"} xref: OMIM:228000 {source="DOID:0050464", source="Orphanet:333/e", source="MONDO:equivalentTo", source="Orphanet:333"} xref: Orphanet:333 {source="MONDO:equivalentTo", source="OMIM:228000"} xref: SCTID:79935000 {source="DOID:0050464", source="MONDO:equivalentTo"} xref: UMLS:C0268255 {source="NCIT:C84710", source="DOID:0050464", source="Orphanet:333/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:333"} xref: UMLS:CN204335 {source="MONDO:equivalentTo"} is_a: MONDO:0100524 {source="https://clinicalgenome.org/affiliation/40110/"} ! ASAH1-related sphingolipidosis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015949"} ! rare property_value: exactMatch DOID:0050464 property_value: exactMatch http://identifiers.org/mesh/D055577 property_value: exactMatch http://identifiers.org/snomedct/79935000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268255 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204335 property_value: exactMatch https://omim.org/entry/228000 property_value: exactMatch NCIT:C84710 property_value: exactMatch Orphanet:333 property_value: excluded_subClassOf MONDO:0019296 {source="Orphanet:333"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5881 xsd:anyURI [Term] id: MONDO:0009221 name: femur-fibula-ulna complex def: "Femur-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more frequently reported in males than females, characterized by a highly variable combination of defects of the femur, fibula, and/or ulna, with striking asymmetry, including absence of the proximal part of the femur, absence of the fibula and malformation of the ulnar side of the upper limb. Axial skeleton, internal organs and intellectual function are usually normal." [Orphanet:2019] subset: ordo_malformation_syndrome {source="Orphanet:2019"} synonym: "femur fibula ulna syndrome" RELATED [GARD:0002286] synonym: "femur-fibula-ulna dysostosis" EXACT [Orphanet:2019] synonym: "femur-fibula-ulna syndrome" EXACT [OMIM:228200, Orphanet:2019] synonym: "FFU complex" EXACT [Orphanet:2019] synonym: "Ffu syndrome" RELATED [OMIM:228200] synonym: "PFFD" EXACT ABBREVIATION [Orphanet:2019] xref: MedDRA:10068448 {source="Orphanet:2019", source="Orphanet:2019/e"} xref: MESH:C537918 {source="MONDO:equivalentTo", source="Orphanet:2019", source="Orphanet:2019/e"} xref: OMIM:228200 {source="MONDO:equivalentTo", source="Orphanet:2019", source="Orphanet:2019/e"} xref: Orphanet:2019 {source="OMIM:228200", source="MONDO:equivalentTo"} xref: UMLS:C1856790 {source="OMIM:228200", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect property_value: closeMatch http://identifiers.org/meddra/10068448 property_value: exactMatch http://identifiers.org/mesh/C537918 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856790 property_value: exactMatch https://omim.org/entry/228200 property_value: exactMatch Orphanet:2019 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0009222 name: Gollop-Wolfgang complex def: "Gollop-Wolfgang complex is a very rare malformation characterized by ectrodactyly of the hand and ipsilateral bifurcation of the femur." [Orphanet:1986] subset: ordo_malformation_syndrome {source="Orphanet:1986"} synonym: "bifid femur-monodactylous ectrodactyly syndrome" EXACT [Orphanet:1986] synonym: "femur bifid with monodactylous ectrodactyly" RELATED [GARD:0002285] synonym: "femur, unilateral bifid, with monodactylous ectrodactyly" RELATED [OMIM:228250] synonym: "Gollop-Wolfgang complex" EXACT [OMIM:228250] synonym: "GWC" RELATED ABBREVIATION [GARD:0002285] xref: MESH:C537917 {source="MONDO:equivalentTo"} xref: OMIM:228250 {source="MONDO:equivalentTo", source="Orphanet:1986", source="Orphanet:1986/e"} xref: Orphanet:1986 {source="MONDO:equivalentTo", source="OMIM:228250"} xref: SCTID:716006003 {source="MONDO:equivalentTo"} xref: UMLS:C1856789 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1986", source="OMIM:228250", source="Orphanet:1986/e"} is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect property_value: exactMatch http://identifiers.org/mesh/C537917 property_value: exactMatch http://identifiers.org/snomedct/716006003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856789 property_value: exactMatch https://omim.org/entry/228250 property_value: exactMatch Orphanet:1986 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0009223 name: hypogonadotropic hypogonadism 23 with or without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_clinical_subtype {source="Orphanet:325448"} synonym: "46,XY disorder of sex development due to LHB deficiency" EXACT [DOID:0090091, Orphanet:325448] synonym: "46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency" EXACT [DOID:0090091, Orphanet:325448] synonym: "46,XY DSD due to LHB deficiency" EXACT [DOID:0090091, Orphanet:325448] synonym: "46,XY DSD due to luteinizing hormone subunit beta deficiency" EXACT [DOID:0090091, Orphanet:325448] synonym: "eunuchoidism with spermatogenesis, normal FSH and low or normal interstitial cell-stimulating hormone (ICSH)" RELATED [GARD:0010127] synonym: "fertile eunuch syndrome" EXACT [DOID:0090091, OMIM:228300] synonym: "HH23" RELATED ABBREVIATION [MONDO:Lexical, OMIM:228300] synonym: "hypogonadotropic hypogonadism 23 without anosmia" RELATED [MONDO:Lexical, OMIM:228300] synonym: "hypogonadotropic hypogonadism caused by mutation in LHB" EXACT [MONDO:design_pattern] synonym: "Leydig cell hypoplasia due to LHB deficiency" EXACT [DOID:0090091] synonym: "Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency" EXACT [DOID:0090091, Orphanet:325448] synonym: "LHB hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Pasqualini syndrome" EXACT [DOID:0090091, OMIM:228300] xref: DOID:0090091 {source="MONDO:equivalentTo"} xref: ICD9:253.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537919 {source="MONDO:equivalentTo"} xref: OMIM:228300 {source="Orphanet:325448", source="MONDO:equivalentTo", source="Orphanet:325448/e", source="DOID:0090091"} xref: Orphanet:325448 {source="OMIM:228300", source="MONDO:equivalentTo", source="DOID:0090091"} xref: SCTID:8829008 {source="MONDO:equivalentTo"} xref: UMLS:C0271582 {source="OMIM:228300", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018555 {source="DOID:0090091", source="MONDO:Redundant", source="OMIM:228300"} ! hypogonadotropic hypogonadism is_a: MONDO:0019155 {source="Orphanet:325448"} ! Leydig cell hypoplasia property_value: exactMatch DOID:0090091 property_value: exactMatch http://identifiers.org/mesh/C537919 property_value: exactMatch http://identifiers.org/snomedct/8829008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271582 property_value: exactMatch https://omim.org/entry/228300 property_value: exactMatch Orphanet:325448 [Term] id: MONDO:0009228 name: gingival fibromatosis-facial dysmorphism syndrome def: "Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism." [Orphanet:2025] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2025"} synonym: "fibromatosis, gingival, with distinctive facies" RELATED [OMIM:228560] synonym: "gingival fibromatosis with craniofacial dysmorphism" RELATED [GARD:0010528] synonym: "gingival fibromatosis with distinctive facies" RELATED [GARD:0010528] xref: MESH:C565567 {source="MONDO:equivalentTo"} xref: OMIM:228560 {source="Orphanet:2025", source="MONDO:equivalentTo", source="Orphanet:2025/e", source="GARD:0010528"} xref: Orphanet:2025 {source="MONDO:equivalentTo", source="OMIM:228560"} xref: UMLS:C1856761 {source="Orphanet:2025", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="GARD:0010528", source="OMIM:228560"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:2025"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C565567 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856761 property_value: exactMatch https://omim.org/entry/228560 property_value: exactMatch Orphanet:2025 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10528/gingival-fibromatosis-with-distinctive-facies xsd:anyURI {source="GARD:0010528"} [Term] id: MONDO:0009229 name: hyaline fibromatosis syndrome subset: ordo_disease synonym: "HFS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:228600] synonym: "hyaline fibromatosis syndrome" EXACT [MONDO:Lexical, OMIM:228600] synonym: "hyalinosis, systemic" RELATED [OMIM:228600] synonym: "infantile systemic hyalinosis (former subtype)" RELATED [GARD:0006807] synonym: "inherited systemic hyalinosis" RELATED [GARD:0006807] synonym: "juvenile hyaline fibromatosis (former subtype)" RELATED [GARD:0006807] xref: DOID:0111669 {source="MONDO:equivalentTo"} xref: OMIM:228600 {source="MONDO:equivalentTo"} xref: Orphanet:498474 {source="MONDO:equivalentTo"} xref: UMLS:C2745948 {source="OMIM:228600", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019707 {source="Orphanet:498474"} ! primary osteolysis property_value: exactMatch DOID:0111669 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2745948 property_value: exactMatch https://omim.org/entry/228600 property_value: exactMatch Orphanet:498474 [Term] id: MONDO:0009230 name: fibrosclerosis, multifocal synonym: "fibrosclerosis, multifocal" EXACT [OMIM:228800] synonym: "mediastinal fibrosis, familial" RELATED [OMIM:228800] synonym: "multifocal fibrosclerosis" RELATED [GARD:0005697] synonym: "retroperitoneal fibrosis, familial" RELATED [OMIM:228800] xref: ICD10CM:M35.5 {source="MONDO:equivalentTo"} xref: ICD9:710.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537375 {source="MONDO:equivalentTo"} xref: OMIM:228800 {source="MONDO:equivalentTo"} xref: SCTID:111210001 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: MONDO:0018848 {source="MESH:C537375", source="Orphanet:49041/btnt"} ! IgG4-related retroperitoneal fibrosis property_value: exactMatch http://identifiers.org/mesh/C537375 property_value: exactMatch http://identifiers.org/snomedct/111210001 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/M35.5 property_value: exactMatch https://omim.org/entry/228800 [Term] id: MONDO:0009231 name: acromesomelic dysplasia 2B subset: gard_rare {source="GARD:0009879"} subset: ordo_malformation_syndrome {source="Orphanet:2639"} synonym: "acromesomelic dysplasia 2B" EXACT [OMIM:228900, OMIM:genemap2] synonym: "Du Pan syndrome" EXACT [DOID:0050790, OMIM:228900, Orphanet:2639] synonym: "fibular aplasia-complex brachydactyly syndrome" RELATED [Orphanet:2639] synonym: "fibular hypoplasia and complex brachydactyly" EXACT [OMIM:228900] xref: DOID:0050790 {source="MONDO:equivalentTo"} xref: MESH:C537931 {source="MONDO:equivalentTo"} xref: OMIM:228900 {source="Orphanet:2639/e", source="MONDO:equivalentTo", source="Orphanet:2639", source="DOID:0050790"} xref: Orphanet:2639 {source="MONDO:equivalentTo", source="OMIM:228900"} xref: SCTID:715474004 {source="MONDO:equivalentTo"} xref: UMLS:C1856738 {source="Orphanet:2639/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:228900", source="Orphanet:2639"} is_a: EFO:1000017 {source="DOID:0050790", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation is_a: MONDO:0019696 {source="OMIM:228900", source="Orphanet:2639", source="PMID:31633310"} ! acromesomelic dysplasia property_value: exactMatch DOID:0050790 property_value: exactMatch http://identifiers.org/mesh/C537931 property_value: exactMatch http://identifiers.org/snomedct/715474004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856738 property_value: exactMatch https://omim.org/entry/228900 property_value: exactMatch Orphanet:2639 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9879/fibular-hypoplasia-and-complex-brachydactyly xsd:anyURI {source="GARD:0009879"} [Term] id: MONDO:0009232 name: Fuhrmann syndrome def: "Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly." [Orphanet:2854] subset: gard_rare {source="GARD:0002410"} subset: ordo_malformation_syndrome {source="Orphanet:2854"} synonym: "bowing of the femurs, aplasia or hypoplasia of the fibula, and digital anomalies" RELATED [GARD:0002410] synonym: "fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly" RELATED [OMIM:228930] synonym: "fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome" EXACT [Orphanet:2854] synonym: "Fuhrmann syndrome" EXACT [OMIM:228930] synonym: "Fuhrmann-Rieger-de Sousa syndrome" EXACT [Orphanet:2854] xref: DOID:0090067 {source="MONDO:equivalentTo"} xref: MESH:C538189 {source="MONDO:equivalentTo", source="Orphanet:2854", source="Orphanet:2854/e"} xref: OMIM:228930 {source="DOID:0090067", source="MONDO:equivalentTo", source="Orphanet:2854", source="Orphanet:2854/e"} xref: Orphanet:2854 {source="DOID:0090067", source="OMIM:228930", source="MONDO:equivalentTo"} xref: SCTID:721296004 {source="MONDO:equivalentTo"} xref: UMLS:C1856728 {source="OMIM:228930", source="MONDO:equivalentTo", source="Orphanet:2854", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2854/e"} is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect property_value: exactMatch DOID:0090067 property_value: exactMatch http://identifiers.org/mesh/C538189 property_value: exactMatch http://identifiers.org/snomedct/721296004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856728 property_value: exactMatch https://omim.org/entry/228930 property_value: exactMatch Orphanet:2854 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2410/fuhrmann-syndrome xsd:anyURI {source="GARD:0002410"} [Term] id: MONDO:0009233 name: Fibulo-ulnar hypoplasia-renal anomalies syndrome def: "Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait." [Orphanet:2256] subset: ordo_malformation_syndrome {source="Orphanet:2256"} synonym: "Fibulo ulnar hypoplasia renal anomalies" RELATED [GARD:0000320] synonym: "FIBULOULNAR aplasia or hypoplasia with renal abnormalities" RELATED [OMIM:228940] synonym: "Saito Kuba Tsuruta syndrome" RELATED [GARD:0000320] synonym: "Saito-Kuba-Tsuruta syndrome" EXACT [Orphanet:2256] xref: MESH:C537226 {source="MONDO:equivalentTo"} xref: OMIM:228940 {source="Orphanet:2256", source="MONDO:equivalentTo", source="Orphanet:2256/e"} xref: Orphanet:2256 {source="OMIM:228940", source="MONDO:equivalentTo"} xref: SCTID:716094008 {source="MONDO:equivalentTo"} xref: UMLS:C1856727 {source="Orphanet:2256", source="OMIM:228940", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2256/e"} is_a: MONDO:0015161 {source="Orphanet:2256"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability property_value: exactMatch http://identifiers.org/mesh/C537226 property_value: exactMatch http://identifiers.org/snomedct/716094008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856727 property_value: exactMatch https://omim.org/entry/228940 property_value: exactMatch Orphanet:2256 [Term] id: MONDO:0009234 name: congenital high-molecular-weight kininogen deficiency def: "A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis." [NCIT:C98946] subset: gard_rare subset: ordo_disease {source="Orphanet:483"} synonym: "Fitzgerald trait" RELATED [MESH:C537060, OMIM:228960] synonym: "Fitzgerald trait kininogen deficiency, total, included" RELATED [MESH:C537060] synonym: "Flaujeac factor deficiency" RELATED [GARD:0002684] synonym: "Flaujeac trait" RELATED [OMIM:228960] synonym: "Flaujeac trait, included" RELATED [MESH:C537060] synonym: "high molecular weight kininogen deficiency" EXACT [MESH:C537060, OMIM:228960, OMIM:genemap2] synonym: "high-molecular-weight kininogen deficiency, congenital" RELATED [GARD:0002684] synonym: "HMWK" RELATED ABBREVIATION [GARD:0002684] synonym: "HMWK deficiency" RELATED [MESH:C537060, OMIM:228960] synonym: "kininogen deficiency" EXACT [OMIM:228960, OMIM:genemap2] synonym: "kininogen deficiency, high molecular weight" RELATED [MESH:C537060, OMIM:228960] synonym: "kininogen deficiency, high molecular weight and Low molecular weight" RELATED [OMIM:228960] synonym: "kininogen deficiency, high molecular weight and LOW molecular weight, included" RELATED [MESH:C537060] synonym: "kininogen deficiency, total" RELATED [MESH:C537060, OMIM:228960] synonym: "Williams trait" RELATED [OMIM:228960] synonym: "Williams trait, included" RELATED [MESH:C537060] xref: DOID:0111676 {source="MONDO:equivalentTo"} xref: ICD9:286.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537060 {source="MONDO:equivalentTo"} xref: NCIT:C98946 {source="MONDO:equivalentTo"} xref: OMIM:228960 {source="GARD:0002684", source="Orphanet:483/e", source="MONDO:equivalentTo", source="Orphanet:483"} xref: Orphanet:483 {source="GARD:0002684", source="OMIM:228960", source="MONDO:equivalentTo"} xref: SCTID:27312002 {source="MONDO:equivalentTo"} is_a: MONDO:0002242 {source="MONDO:0019039-obsoleted"} ! coagulation protein disease is_a: MONDO:0002243 ! hemorrhagic disease property_value: exactMatch DOID:0111676 property_value: exactMatch http://identifiers.org/mesh/C537060 property_value: exactMatch http://identifiers.org/snomedct/27312002 property_value: exactMatch https://omim.org/entry/228960 property_value: exactMatch NCIT:C98946 property_value: exactMatch Orphanet:483 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2684/high-molecular-weight-kininogen-deficiency xsd:anyURI {source="GARD:0002684"} [Term] id: MONDO:0009235 name: familial benign flecked retina def: "Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits." [Orphanet:363989] subset: ordo_disease {source="Orphanet:363989"} synonym: "FLECK retina, familial benign" RELATED [MONDO:Lexical, OMIM:228980] synonym: "fleck retina, familial benign" EXACT [OMIM:228980, OMIM:genemap2] synonym: "FRFB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:228980] xref: DOID:0111677 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.5 {source="Orphanet:363989/attributed", source="Orphanet:363989/ntbt", source="MONDO:directSiblingOf", source="Orphanet:363989"} xref: MESH:C565564 {source="MONDO:equivalentTo"} xref: OMIM:228980 {source="Orphanet:363989/e", source="MONDO:equivalentTo", source="Orphanet:363989"} xref: Orphanet:363989 {source="OMIM:228980", source="MONDO:equivalentTo"} xref: UMLS:C1856718 {source="OMIM:228980", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:363989"} is_a: MONDO:0019118 {source="Orphanet:363989"} ! inherited retinal dystrophy property_value: exactMatch DOID:0111677 property_value: exactMatch http://identifiers.org/mesh/C565564 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856718 property_value: exactMatch https://omim.org/entry/228980 property_value: exactMatch Orphanet:363989 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009236 name: Kandori fleck retina def: "Kandori fleck retina is a rare, genetic retinal dystrophy characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness." [Orphanet:99179] subset: ordo_malformation_syndrome {source="Orphanet:99179"} synonym: "FLECK retina of KANDORI" RELATED [OMIM:228990] xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:99179/attributed", source="Orphanet:99179/ntbt", source="Orphanet:99179"} xref: MESH:C562701 {source="MONDO:equivalentTo"} xref: OMIM:228990 {source="Orphanet:99179/e", source="MONDO:equivalentTo", source="Orphanet:99179"} xref: Orphanet:99179 {source="MONDO:equivalentTo", source="OMIM:228990"} xref: SCTID:765191009 {source="MONDO:equivalentTo"} xref: UMLS:C0271257 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:228990", source="Orphanet:99179"} is_a: MONDO:0016420 {source="Orphanet:99179"} ! familial flecked retinopathy property_value: exactMatch http://identifiers.org/mesh/C562701 property_value: exactMatch http://identifiers.org/snomedct/765191009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271257 property_value: exactMatch https://omim.org/entry/228990 property_value: exactMatch Orphanet:99179 [Term] id: MONDO:0009238 name: hereditary folate malabsorption def: "Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders." [Orphanet:90045] subset: gard_rare {source="GARD:0012983"} subset: ordo_disease {source="Orphanet:90045"} synonym: "congenital defect of folate absorption" RELATED [GARD:0012983] synonym: "congenital folate malabsorption" EXACT [Orphanet:90045] synonym: "folate malabsorption, hereditary" RELATED [OMIM:229050] synonym: "folic acid transport defect" RELATED [GARD:0012983] xref: DOID:0111678 {source="MONDO:equivalentTo"} xref: MESH:C562799 {source="MONDO:equivalentTo"} xref: NCIT:C156424 {source="MONDO:equivalentTo"} xref: OMIM:229050 {source="MONDO:equivalentTo", source="Orphanet:90045", source="Orphanet:90045/e"} xref: Orphanet:90045 {source="MONDO:equivalentTo", source="OMIM:229050"} xref: SCTID:62578003 {source="MONDO:equivalentTo"} xref: UMLS:C0342705 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:90045", source="OMIM:229050"} is_a: MONDO:0001700 ! megaloblastic anemia is_a: MONDO:0015179 {source="Orphanet:90045"} ! intestinal disease due to vitamin absorption anomaly is_a: MONDO:0015823 ! primary immunodeficiency due to a defect in adaptive immunity is_a: MONDO:0016624 ! inherited deficiency anemia is_a: MONDO:0017313 {source="Orphanet:90045"} ! disorder of folate metabolism and transport property_value: exactMatch DOID:0111678 property_value: exactMatch http://identifiers.org/mesh/C562799 property_value: exactMatch http://identifiers.org/snomedct/62578003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342705 property_value: exactMatch https://omim.org/entry/229050 property_value: exactMatch NCIT:C156424 property_value: exactMatch Orphanet:90045 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12983/hereditary-folate-malabsorption xsd:anyURI {source="GARD:0012983"} [Term] id: MONDO:0009239 name: hypogonadotropic hypogonadism 24 without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FSHB gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:52901"} synonym: "follicle-stimulating hormone deficiency, isolated" RELATED [OMIM:229070] synonym: "FSHB hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "HH24" RELATED ABBREVIATION [MONDO:Lexical, OMIM:229070] synonym: "hypogonadotropic hypogonadism 24 without anosmia" EXACT [MONDO:Lexical, OMIM:229070] synonym: "hypogonadotropic hypogonadism caused by mutation in FSHB" EXACT [MONDO:design_pattern] synonym: "isolated follicle stimulating hormone deficiency" RELATED [Orphanet:52901] synonym: "isolated follicle-stimulating hormone (FSH) deficiency" RELATED [GARD:0010128] synonym: "isolated follicle-stimulating hormone deficiency" EXACT [DOID:0090088] synonym: "isolated FSH deficiency" EXACT [Orphanet:52901] xref: DOID:0090088 {source="MONDO:equivalentTo"} xref: MESH:C537070 {source="MONDO:equivalentTo", source="Orphanet:52901", source="Orphanet:52901/e"} xref: OMIM:229070 {source="DOID:0090088", source="MONDO:equivalentTo", source="Orphanet:52901", source="Orphanet:52901/e"} xref: Orphanet:52901 {source="DOID:0090088", source="MONDO:equivalentTo", source="OMIM:229070"} xref: SCTID:758664007 {source="MONDO:equivalentTo"} xref: UMLS:C1856716 {source="MONDO:equivalentTo", source="OMIM:229070", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:52901", source="Orphanet:52901/e"} is_a: MONDO:0018555 {source="DOID:0090088", source="MONDO:Redundant", source="OMIM:229070"} ! hypogonadotropic hypogonadism property_value: exactMatch DOID:0090088 property_value: exactMatch http://identifiers.org/mesh/C537070 property_value: exactMatch http://identifiers.org/snomedct/758664007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856716 property_value: exactMatch https://omim.org/entry/229070 property_value: exactMatch Orphanet:52901 [Term] id: MONDO:0009240 name: formiminoglutamic aciduria def: "Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia." [Orphanet:51208] subset: ordo_disease {source="Orphanet:51208"} synonym: "Arakawa syndrome 1" RELATED [GARD:0009279] synonym: "Figlu-Uria" RELATED [OMIM:229100] synonym: "formiminoglutamic acidemia" RELATED [GARD:0009279] synonym: "formiminoglutamic aciduria" EXACT [OMIM:229100] synonym: "Formiminoglutamicaciduria (FIGLU-Uria)" RELATED [GARD:0009279] synonym: "formiminotransferase cyclodeaminase deficiency" EXACT [Orphanet:51208] synonym: "formiminotransferase deficiency" RELATED [OMIM:229100] synonym: "formiminotransferase deficiency syndrome" RELATED [GARD:0009279] synonym: "FTCD deficiency" EXACT [Orphanet:51208] synonym: "glutamate formiminotransferase deficiency" EXACT [OMIM:229100, Orphanet:51208] xref: DOID:0111679 {source="MONDO:equivalentTo"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537425 {source="MONDO:equivalentTo"} xref: OMIM:229100 {source="Orphanet:51208/e", source="MONDO:equivalentTo", source="Orphanet:51208"} xref: Orphanet:51208 {source="MONDO:equivalentTo", source="OMIM:229100"} xref: SCTID:59761008 {source="MONDO:equivalentTo"} xref: UMLS:C0268609 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:51208", source="OMIM:229100"} is_a: MONDO:0001700 ! megaloblastic anemia is_a: MONDO:0016624 ! inherited deficiency anemia is_a: MONDO:0017313 {source="Orphanet:51208"} ! disorder of folate metabolism and transport property_value: exactMatch DOID:0111679 property_value: exactMatch http://identifiers.org/mesh/C537425 property_value: exactMatch http://identifiers.org/snomedct/59761008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268609 property_value: exactMatch https://omim.org/entry/229100 property_value: exactMatch Orphanet:51208 [Term] id: MONDO:0009241 name: fountain syndrome def: "Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features." [Orphanet:3219] subset: gard_rare {source="GARD:0000064"} subset: ordo_malformation_syndrome {source="Orphanet:3219"} synonym: "deafness, skeletal dysplasia, lip granuloma" RELATED [GARD:0000064] synonym: "deafness-skeletal dysplasia-coarse face with full lips syndrome" EXACT [Orphanet:3219] synonym: "deafness-skeletal dysplasia-lip granuloma syndrome" EXACT [Orphanet:3219] synonym: "fountain syndrome" EXACT [OMIM:229120] synonym: "intellectual disability, deafness, skeletal abnormalities, coarse face with full lips" RELATED [GARD:0000064] synonym: "intellectual disability, sensorineural deafness, skeletal abnormalities, and coarse face with full lips" RELATED [OMIM:229120] synonym: "mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips" RELATED DEPRECATED [OMIM:229120] xref: MESH:C537270 {source="MONDO:equivalentTo", source="Orphanet:3219", source="Orphanet:3219/e"} xref: OMIM:229120 {source="MONDO:equivalentTo", source="Orphanet:3219", source="Orphanet:3219/e"} xref: Orphanet:3219 {source="MONDO:equivalentTo", source="OMIM:229120"} xref: SCTID:720957007 {source="MONDO:equivalentTo"} xref: UMLS:C0795944 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3219", source="OMIM:229120", source="Orphanet:3219/e"} is_a: MONDO:0015159 {source="Orphanet:3219"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C537270 property_value: exactMatch http://identifiers.org/snomedct/720957007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795944 property_value: exactMatch https://omim.org/entry/229120 property_value: exactMatch Orphanet:3219 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3219"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/64/fountain-syndrome xsd:anyURI {source="GARD:0000064"} [Term] id: MONDO:0009242 name: brittle cornea syndrome def: "Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility." [Orphanet:90354] subset: gard_rare {source="GARD:0001019"} subset: ordo_disease {source="Orphanet:90354"} subset: prototype_pattern synonym: "BCS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:229200] synonym: "brittle cornea syndrome" EXACT [] synonym: "brittle cornea syndrome 1" RELATED [MONDO:Lexical, OMIM:229200] synonym: "brittle cornea syndrome 2" NARROW [DOID:14775] synonym: "brittle cornea syndrome type 1" EXACT [MONDORULE:1, OMIM:229200] synonym: "EDS VIB (formerly)" RELATED [GARD:0001019] synonym: "Ehlers-Danlos syndrome type 6b" RELATED [] synonym: "Ehlers-Danlos syndrome type 6B (formerly)" RELATED [GARD:0001019] synonym: "kyphoscoliosis type" EXACT [DOID:14775] synonym: "type VIB Ehlers-Danlos syndrome" EXACT [DOID:14775] xref: DOID:14775 {source="MONDO:equivalentTo"} xref: MESH:C536198 {source="DOID:14775", source="MONDO:directSiblingOf"} xref: OMIMPS:229200 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:90354 {source="OMIM:229200", source="MONDO:equivalentTo"} xref: SCTID:719096006 {source="MONDO:equivalentTo"} xref: UMLS:C0268342 {source="DOID:14775", source="MONDO:directSiblingOf"} is_a: EFO:0009464 {source="DOID:14775"} ! corneal disease is_a: EFO:1000017 {source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0020066 {source="DOID:14775", source="Orphanet:90354"} ! Ehlers-Danlos syndrome is_a: MONDO:0023603 ! hereditary disorder of connective tissue relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch DOID:14775 property_value: exactMatch http://identifiers.org/snomedct/719096006 property_value: exactMatch https://omim.org/phenotypicSeries/PS229200 property_value: exactMatch Orphanet:90354 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1019/brittle-cornea-syndrome xsd:anyURI {source="GARD:0001019"} [Term] id: MONDO:0009247 name: frontofacionasal dysplasia def: "Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." [Orphanet:1791] subset: gard_rare {source="GARD:0002390"} subset: ordo_malformation_syndrome {source="Orphanet:1791"} synonym: "Ffnd" RELATED [OMIM:229400] synonym: "fronto-facio-nasal dyplasia" RELATED [GARD:0002390] synonym: "fronto-facio-nasal dysostosis" RELATED [GARD:0002390] synonym: "Frontofacionasal dysostosis" RELATED [OMIM:229400] synonym: "frontofacionasal dysplasia" EXACT [OMIM:229400] synonym: "Gollop syndrome" EXACT [Orphanet:1791] xref: MESH:C538063 {source="MONDO:equivalentTo"} xref: OMIM:229400 {source="Orphanet:1791", source="MONDO:equivalentTo", source="Orphanet:1791/e"} xref: Orphanet:1791 {source="OMIM:229400", source="MONDO:equivalentTo"} xref: SCTID:716022002 {source="MONDO:equivalentTo"} xref: UMLS:C2931720 {source="Orphanet:1791", source="OMIM:229400", source="MONDO:equivalentTo", source="Orphanet:1791/e"} is_a: MONDO:0015161 {source="Orphanet:1791"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015334 {source="Orphanet:1791"} ! branchial arch or oral-acral syndrome is_a: MONDO:0015412 {source="Orphanet:1791"} ! median facial cleft is_a: MONDO:0016643 {source="Orphanet:1791"} ! frontonasal dysplasia is_a: MONDO:0020156 {source="Orphanet:1791"} ! syndromic ankyloblepharon is_a: MONDO:0020157 {source="Orphanet:1791"} ! syndromic palpebral coloboma property_value: exactMatch http://identifiers.org/mesh/C538063 property_value: exactMatch http://identifiers.org/snomedct/716022002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931720 property_value: exactMatch https://omim.org/entry/229400 property_value: exactMatch Orphanet:1791 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2390/frontofacionasal-dysplasia xsd:anyURI {source="GARD:0002390"} [Term] id: MONDO:0009249 name: hereditary fructose intolerance def: "Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated." [Orphanet:469] subset: ordo_disease {source="Orphanet:469"} synonym: "Aldob deficiency" RELATED [OMIM:229600] synonym: "aldolase B deficiency" RELATED [OMIM:229600] synonym: "Fructosaemia" EXACT [DOID:9869] synonym: "fructose intolerance" EXACT [NCIT:C84720] synonym: "fructose intolerance, hereditary" RELATED [OMIM:229600] synonym: "fructose-1,6-bisphosphate aldolase B deficiency" EXACT [DOID:9869, OMIM:229600] synonym: "fructose-1-phosphate aldolase deficiency" RELATED [OMIM:229600] synonym: "fructosemia" EXACT [DOID:9869, OMIM:229600] synonym: "hereditary fructose intolerance" EXACT [] synonym: "hereditary fructose intolerance syndrome" EXACT [MONDO:0004906] synonym: "hereditary fructose-1-phosphate aldolase deficiency" EXACT [Orphanet:469] synonym: "hereditary fructosemia" EXACT [Orphanet:469] xref: DOID:9869 {source="MONDO:equivalentTo"} xref: ICD10CM:E74.12 {source="DOID:9869", source="MONDO:equivalentTo"} xref: ICD9:271.2 {source="DOID:9869"} xref: MedDRA:10019878 {source="Orphanet:469", source="Orphanet:469/e"} xref: NCIT:C84720 {source="DOID:9869", source="MONDO:equivalentTo"} xref: OMIM:229600 {source="Orphanet:469", source="MONDO:equivalentTo", source="Orphanet:469/e"} xref: Orphanet:469 {source="OMIM:229600", source="MONDO:equivalentTo"} xref: SCTID:20052008 {source="DOID:9869", source="MONDO:equivalentTo"} xref: UMLS:C0016751 {source="Orphanet:469", source="DOID:9869", source="OMIM:229600", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C84720"} is_a: MONDO:0017689 {source="Orphanet:469"} ! disorder of fructose metabolism is_a: MONDO:0800152 {source="PMID:33340416"} ! disorder of galactose and fructose metabolism relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare property_value: closeMatch http://identifiers.org/meddra/10019878 property_value: exactMatch DOID:9869 property_value: exactMatch http://identifiers.org/snomedct/20052008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016751 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E74.12 property_value: exactMatch https://omim.org/entry/229600 property_value: exactMatch NCIT:C84720 property_value: exactMatch Orphanet:469 property_value: excluded_subClassOf MONDO:0015178 {source="Orphanet:469"} property_value: excluded_subClassOf MONDO:0017706 {source="Orphanet:469"} property_value: excluded_subClassOf MONDO:0019743 {source="Orphanet:469"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0009251 name: fructose-1,6-bisphosphatase deficiency def: "Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants." [Orphanet:348] subset: ordo_disease {source="Orphanet:348"} synonym: "baker-Winegrad disease" RELATED [GARD:0002400] synonym: "FBP1D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:229700] synonym: "fructose 1 phosphate aldolase deficiency" EXACT [DOID:5204] synonym: "fructose 1,6 diphosphatase deficiency" RELATED [GARD:0002400] synonym: "fructose-1,6-bisphosphatase deficiency" EXACT [MONDO:Lexical, OMIM:229700] synonym: "fructose-1,6-diphosphatase deficiency" EXACT [DOID:5204] xref: DOID:5204 {source="MONDO:equivalentTo"} xref: NCIT:C128119 {source="MONDO:equivalentTo"} xref: OMIM:229700 {source="Orphanet:348", source="DOID:5204", source="MONDO:equivalentTo", source="Orphanet:348/e"} xref: Orphanet:348 {source="OMIM:229700", source="MONDO:equivalentTo"} xref: SCTID:28183005 {source="DOID:5204", source="MONDO:equivalentTo"} xref: UMLS:C0016756 {source="Orphanet:348", source="OMIM:229700", source="DOID:5204", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:348/e", source="NCIT:C128119"} is_a: MONDO:0019225 {source="Orphanet:348", source="PMID:33340416"} ! disorder of gluconeogenesis property_value: exactMatch DOID:5204 property_value: exactMatch http://identifiers.org/snomedct/28183005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016756 property_value: exactMatch https://omim.org/entry/229700 property_value: exactMatch NCIT:C128119 property_value: exactMatch Orphanet:348 property_value: excluded_subClassOf MONDO:0017689 {source="Orphanet:348"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0009252 name: essential fructosuria def: "Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated." [Orphanet:2056] subset: ordo_disease {source="Orphanet:2056"} synonym: "fructokinase deficiency" EXACT [Orphanet:2056] synonym: "fructosuria, essential" EXACT [OMIM:229800, OMIM:genemap2] synonym: "hepatic fructokinase deficiency" RELATED [OMIM:229800] synonym: "ketohexokinase deficiency" EXACT [OMIM:229800, Orphanet:2056] xref: DOID:0111680 {source="MONDO:equivalentTo"} xref: ICD10CM:E74.11 {source="MONDO:equivalentTo"} xref: MedDRA:10015487 {source="Orphanet:2056", source="Orphanet:2056/e"} xref: MESH:C538068 {source="Orphanet:2056", source="MONDO:equivalentTo", source="Orphanet:2056/e"} xref: OMIM:229800 {source="Orphanet:2056", source="MONDO:equivalentTo", source="Orphanet:2056/e"} xref: Orphanet:2056 {source="MONDO:equivalentTo", source="OMIM:229800"} xref: SCTID:40278002 {source="MONDO:equivalentTo"} xref: UMLS:C0268160 {source="Orphanet:2056", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0017689 {source="Orphanet:2056"} ! disorder of fructose metabolism is_a: MONDO:0800152 {source="PMID:33340416"} ! disorder of galactose and fructose metabolism property_value: closeMatch http://identifiers.org/meddra/10015487 property_value: exactMatch DOID:0111680 property_value: exactMatch http://identifiers.org/mesh/C538068 property_value: exactMatch http://identifiers.org/snomedct/40278002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268160 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E74.11 property_value: exactMatch https://omim.org/entry/229800 property_value: exactMatch Orphanet:2056 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0009253 name: Fryns syndrome def: "Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations." [Orphanet:2059] subset: gard_rare {source="GARD:0003699"} subset: ordo_malformation_syndrome {source="Orphanet:2059"} synonym: "diaphragmatic hernia, abnormal face, and distal limb anomalies" RELATED [OMIM:229850] synonym: "diaphragmatic hernia-abnormal face-distal limb anomalies syndrome" EXACT [Orphanet:2059] synonym: "FRNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:229850] synonym: "Fryns syndrome" EXACT [MONDO:Lexical, OMIM:229850] synonym: "Moerman Van den Berghe Fryns syndrome" RELATED [GARD:0003699] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538070 {source="Orphanet:2059", source="MONDO:equivalentTo", source="Orphanet:2059/e"} xref: NCIT:C98932 {source="MONDO:equivalentTo"} xref: OMIM:229850 {source="Orphanet:2059", source="MONDO:equivalentTo", source="Orphanet:2059/e"} xref: Orphanet:2059 {source="OMIM:229850", source="MONDO:equivalentTo"} xref: SCTID:702432006 {source="MONDO:equivalentTo"} xref: UMLS:C0220730 {source="OMIM:229850", source="Orphanet:2059", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2059/e", source="NCIT:C98932"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C98932"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:2059"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C538070 property_value: exactMatch http://identifiers.org/snomedct/702432006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220730 property_value: exactMatch https://omim.org/entry/229850 property_value: exactMatch NCIT:C98932 property_value: exactMatch Orphanet:2059 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2059"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3699/fryns-syndrome xsd:anyURI {source="GARD:0003699"} [Term] id: MONDO:0009254 name: fucosidosis def: "Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis." [Orphanet:349] subset: gard_rare {source="GARD:0006473"} subset: ordo_disease {source="Orphanet:349"} synonym: "A-fucosidase deficiency" EXACT [DOID:14500] synonym: "alpha fucosidase deficiency" EXACT [DOID:14500] synonym: "Alpha-L-fucosidase deficiency" EXACT [OMIM:230000, Orphanet:349] synonym: "fucosidosis" EXACT [OMIM:230000] synonym: "lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues" RELATED [GARD:0006473] xref: DOID:14500 {source="MONDO:equivalentTo"} xref: ICD9:271.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D005645 {source="Orphanet:349", source="MONDO:equivalentTo", source="Orphanet:349/e", source="DOID:14500"} xref: NCIT:C61274 {source="MONDO:equivalentTo", source="DOID:14500"} xref: OMIM:230000 {source="Orphanet:349", source="MONDO:equivalentTo", source="Orphanet:349/e", source="DOID:14500"} xref: Orphanet:349 {source="MONDO:equivalentTo", source="OMIM:230000"} xref: SCTID:64716005 {source="MONDO:equivalentTo", source="DOID:14500"} xref: UMLS:C0016788 {source="Orphanet:349", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:230000", source="NCIT:C61274", source="Orphanet:349/e", source="DOID:14500"} is_a: MONDO:0019251 {source="Orphanet:349"} ! oligosaccharidosis is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement property_value: exactMatch DOID:14500 property_value: exactMatch http://identifiers.org/mesh/D005645 property_value: exactMatch http://identifiers.org/snomedct/64716005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016788 property_value: exactMatch https://omim.org/entry/230000 property_value: exactMatch NCIT:C61274 property_value: exactMatch Orphanet:349 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6473/fucosidosis xsd:anyURI {source="GARD:0006473"} [Term] id: MONDO:0009255 name: galactokinase deficiency def: "Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." [Orphanet:79237] subset: gard_rare {source="GARD:0002422"} subset: ordo_disease {source="Orphanet:79237"} synonym: "galactokinase deficiency" EXACT [OMIM:230200] synonym: "galactokinase deficiency galactosemia" EXACT [Orphanet:79237] synonym: "galactokinase deficiency with cataracts" EXACT [OMIM:230200, OMIM:genemap2] synonym: "galactosemia 2" RELATED [OMIM:230200] synonym: "galactosemia II" EXACT [DOID:14695] synonym: "galactosemia type 2" EXACT [Orphanet:79237] synonym: "GALK deficiency" EXACT [Orphanet:79237] synonym: "Galk deficiency" RELATED [OMIM:230200] synonym: "GALK-D" EXACT [Orphanet:79237] synonym: "hereditary galactokinase deficiency" RELATED [GARD:0002422] xref: DOID:14695 {source="MONDO:equivalentTo"} xref: NCIT:C114767 {source="MONDO:equivalentTo", source="DOID:14695"} xref: OMIM:230200 {source="Orphanet:79237", source="MONDO:equivalentTo", source="Orphanet:79237/e", source="DOID:14695"} xref: Orphanet:79237 {source="MONDO:equivalentTo", source="OMIM:230200"} xref: SCTID:124302001 {source="MONDO:equivalentTo", source="DOID:14695"} xref: UMLS:C0268155 {source="Orphanet:79237", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:79237/e", source="DOID:14695", source="OMIM:230200", source="NCIT:C114767"} is_a: MONDO:0018116 {source="DOID:14695", source="NCIT:C114767", source="Orphanet:79237"} ! galactosemia is_a: MONDO:0800152 {source="PMID:33340416"} ! disorder of galactose and fructose metabolism property_value: exactMatch DOID:14695 property_value: exactMatch http://identifiers.org/snomedct/124302001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268155 property_value: exactMatch https://omim.org/entry/230200 property_value: exactMatch NCIT:C114767 property_value: exactMatch Orphanet:79237 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2422/galactokinase-deficiency xsd:anyURI {source="GARD:0002422"} [Term] id: MONDO:0009257 name: galactose epimerase deficiency def: "Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism." [Orphanet:79238] subset: gard_rare {source="GARD:0005392"} subset: ordo_disease {source="Orphanet:79238"} synonym: "epimerase deficiency galactosemia" EXACT [Orphanet:79238] synonym: "galactose epimerase deficiency" EXACT [OMIM:230350] synonym: "galactosemia 3" RELATED [OMIM:230350] synonym: "galactosemia type 3" EXACT [Orphanet:79238] synonym: "GALE deficiency" EXACT [Orphanet:79238] synonym: "Gale deficiency" RELATED [OMIM:230350] synonym: "GALE-D" EXACT [Orphanet:79238] synonym: "UDP-galactose-4-epimerase deficiency" EXACT [OMIM:230350, Orphanet:79238] synonym: "uridine diphosphate galactose-4-epimerase deficiency" EXACT [Orphanet:79238] xref: DOID:0111458 {source="MONDO:equivalentTo"} xref: OMIM:230350 {source="Orphanet:79238", source="MONDO:equivalentTo", source="Orphanet:79238/e"} xref: Orphanet:79238 {source="MONDO:equivalentTo", source="OMIM:230350"} xref: SCTID:8849004 {source="MONDO:equivalentTo"} is_a: MONDO:0018116 {source="Orphanet:79238"} ! galactosemia property_value: exactMatch DOID:0111458 property_value: exactMatch http://identifiers.org/snomedct/8849004 property_value: exactMatch https://omim.org/entry/230350 property_value: exactMatch Orphanet:79238 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5392/galactose-epimerase-deficiency xsd:anyURI {source="GARD:0005392"} [Term] id: MONDO:0009258 name: classic galactosemia def: "Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." [Orphanet:79239] subset: ordo_disease {source="Orphanet:79239"} synonym: "classic galactosemia" EXACT [] synonym: "classical galactosemia, homozygous duarte-type" NARROW [] synonym: "galactose-1-phosphate uridyltransferase deficiency" EXACT [Orphanet:79239] synonym: "galactose-1-phosphate uridylyltransferase deficiency" RELATED [OMIM:230400] synonym: "galactosemia" RELATED [OMIM:230400] synonym: "galactosemia type 1" EXACT [Orphanet:79239] synonym: "galactosemia, classic" RELATED [OMIM:230400] synonym: "galactosemia, Duarte variant" RELATED [OMIM:230400] synonym: "GALT deficiency" EXACT [Orphanet:79239] synonym: "Galt deficiency" RELATED [OMIM:230400] synonym: "transferase deficiency" RELATED [https://orcid.org/0000-0002-9731-6356] xref: DOID:0111459 {source="MONDO:equivalentTo"} xref: OMIM:230400 {source="Orphanet:79239", source="MONDO:equivalentTo", source="Orphanet:79239/e"} xref: Orphanet:79239 {source="MONDO:equivalentTo", source="OMIM:230400"} xref: SCTID:10899004 {source="MONDO:equivalentTo"} is_a: MONDO:0018116 {source="Orphanet:79239"} ! galactosemia is_a: MONDO:0019852 {source="Orphanet:79239"} ! inherited primary ovarian failure is_a: MONDO:0800152 {source="PMID:33340416"} ! disorder of galactose and fructose metabolism property_value: exactMatch DOID:0111459 property_value: exactMatch http://identifiers.org/snomedct/10899004 property_value: exactMatch https://omim.org/entry/230400 property_value: exactMatch Orphanet:79239 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5834 xsd:anyURI [Term] id: MONDO:0009259 name: gamma-glutamylcysteine synthetase deficiency def: "Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported." [Orphanet:33574] subset: ordo_disease {source="Orphanet:33574"} synonym: "gamma-glutamylcysteine synthetase deficiency, hemolytic anaemia due to" EXACT OMO:0003005 [] synonym: "gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to" EXACT [OMIM:230450] synonym: "glutamate-cysteine ligase deficiency" EXACT [Orphanet:33574] synonym: "hemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency" EXACT OMO:0003005 [] synonym: "hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency" EXACT [OMIM:230450, OMIM:genemap2] synonym: "inborn error of glutamate-cysteine ligase activity" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn glutamate-cysteine ligase activity disorder" EXACT [Orphanet:33574] synonym: "rare inborn error of glutamate-cysteine ligase activity" EXACT [MONDO:patterns/inborn_metabolic] xref: DOID:0111681 {source="MONDO:equivalentTo"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C565557 {source="MONDO:equivalentTo"} xref: OMIM:230450 {source="Orphanet:33574/e", source="MONDO:equivalentTo", source="Orphanet:33574"} xref: Orphanet:33574 {source="MONDO:equivalentTo", source="OMIM:230450"} xref: SCTID:36799008 {source="MONDO:equivalentTo"} is_a: MONDO:0040566 {source="Orphanet:33574", source="PMID:33340416"} ! inherited glutathione metabolism disease property_value: exactMatch DOID:0111681 property_value: exactMatch http://identifiers.org/mesh/C565557 property_value: exactMatch http://identifiers.org/snomedct/36799008 property_value: exactMatch https://omim.org/entry/230450 property_value: exactMatch Orphanet:33574 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0009260 name: GM1 gangliosidosis type 1 alt_id: MONDO:0023211 def: "GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations." [Orphanet:79255] subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:79255"} synonym: "Beta galactosidase deficiency type 1" RELATED [GARD:0006479] synonym: "Beta-galactosidase-1 deficiency" RELATED [OMIM:230500] synonym: "gangliosidosis generalised GM1 infantile form" RELATED OMO:0003005 [] synonym: "gangliosidosis generalised GM1 type 1" RELATED OMO:0003005 [] synonym: "gangliosidosis generalized GM1 infantile form" RELATED [GARD:0006479] synonym: "gangliosidosis generalized GM1 type 1" RELATED [GARD:0006479] synonym: "gangliosidosis, generalised GM1, infantile form" RELATED OMO:0003005 [] synonym: "gangliosidosis, generalised GM1, type 1" RELATED OMO:0003005 [] synonym: "gangliosidosis, generalised GM1, type I, with Cardiac involvement" RELATED OMO:0003005 [] synonym: "gangliosidosis, generalized GM1, infantile form" RELATED [OMIM:230500] synonym: "gangliosidosis, generalized GM1, type 1" RELATED [OMIM:230500] synonym: "gangliosidosis, generalized GM1, type I, with Cardiac involvement" RELATED [OMIM:230500] synonym: "GLB deficiency type 1" RELATED [GARD:0006479] synonym: "Glb1 deficiency" RELATED [OMIM:230500] synonym: "GM1-gangliosidosis, type 1" RELATED [OMIM:230500] synonym: "GM1-gangliosidosis, type I" RELATED [OMIM:230500] synonym: "GM1-gangliosidosis, type I, with Cardiac involvement" RELATED [OMIM:230500] synonym: "infantile GM1 gangliosidosis" EXACT [Orphanet:79255] synonym: "Norman-Landing disease" EXACT [Orphanet:79255] xref: DOID:0080502 {source="MONDO:equivalentTo"} xref: OMIM:230500 {source="GARD:0006479", source="Orphanet:79255/e", source="MONDO:equivalentTo", source="Orphanet:79255"} xref: Orphanet:79255 {source="GARD:0006479", source="MONDO:equivalentTo", source="OMIM:230500"} xref: SCTID:238026007 {source="MONDO:equivalentTo"} is_a: MONDO:0015905 ! syndromic dyslipidemia is_a: MONDO:0018149 {source="DC-OMIM:230500", source="Orphanet:79255"} ! GM1 gangliosidosis is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement property_value: exactMatch DOID:0080502 property_value: exactMatch http://identifiers.org/snomedct/238026007 property_value: exactMatch https://omim.org/entry/230500 property_value: exactMatch Orphanet:79255 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6479/gm1-gangliosidosis-type-1 xsd:anyURI {source="GARD:0006479"} [Term] id: MONDO:0009261 name: GM1 gangliosidosis type 2 def: "GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age." [Orphanet:79256] subset: gard_rare {source="GARD:0010126"} subset: ordo_clinical_subtype {source="Orphanet:79256"} synonym: "gangliosidosis generalised GM1 juvenile type" RELATED OMO:0003005 [] synonym: "gangliosidosis generalised GM1 type 2" RELATED OMO:0003005 [] synonym: "gangliosidosis generalized GM1 juvenile type" RELATED [GARD:0010126] synonym: "gangliosidosis generalized GM1 type 2" RELATED [GARD:0010126] synonym: "gangliosidosis, generalised GM1, juvenile type" RELATED OMO:0003005 [] synonym: "gangliosidosis, generalised GM1, late-infantile type" RELATED OMO:0003005 [] synonym: "gangliosidosis, generalised GM1, type 2" RELATED OMO:0003005 [] synonym: "gangliosidosis, generalized GM1, juvenile type" RELATED [OMIM:230600] synonym: "gangliosidosis, generalized GM1, late-infantile type" RELATED [OMIM:230600] synonym: "gangliosidosis, generalized GM1, type 2" RELATED [OMIM:230600] synonym: "GM1-gangliosidosis, type 2" RELATED [OMIM:230600] synonym: "GM1-gangliosidosis, type II" RELATED [OMIM:230600] synonym: "juvenile GM1 gangliosidosis" EXACT [Orphanet:79256] synonym: "late-infantile GM1 gangliosidosis" EXACT [Orphanet:79256] xref: DOID:0080501 {source="MONDO:equivalentTo"} xref: OMIM:230600 {source="Orphanet:79256/e", source="MONDO:equivalentTo", source="Orphanet:79256"} xref: Orphanet:79256 {source="MONDO:equivalentTo", source="OMIM:230600"} xref: SCTID:18756002 {source="MONDO:equivalentTo"} is_a: MONDO:0018149 {source="DC-OMIM:230600", source="Orphanet:79256"} ! GM1 gangliosidosis property_value: exactMatch DOID:0080501 property_value: exactMatch http://identifiers.org/snomedct/18756002 property_value: exactMatch https://omim.org/entry/230600 property_value: exactMatch Orphanet:79256 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10126/gm1-gangliosidosis-type-2 xsd:anyURI {source="GARD:0010126"} [Term] id: MONDO:0009262 name: GM1 gangliosidosis type 3 def: "GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." [Orphanet:79257] subset: gard_rare {source="GARD:0002431"} subset: ordo_clinical_subtype {source="Orphanet:79257"} synonym: "adult GM1 gangliosidosis" RELATED [GARD:0002431] synonym: "adult-onset GM1 gangliosidosis" EXACT [Orphanet:79257] synonym: "Beta-galactosidase deficiency type 3" RELATED [GARD:0002431] synonym: "gangliosidosis generalised GM1 chronic type" RELATED OMO:0003005 [] synonym: "gangliosidosis generalized GM1 chronic type" RELATED [GARD:0002431] synonym: "gangliosidosis GM1 type 3" RELATED [GARD:0002431] synonym: "gangliosidosis, generalised GM1, adult type" RELATED OMO:0003005 [] synonym: "gangliosidosis, generalised GM1, chronic type" RELATED OMO:0003005 [] synonym: "gangliosidosis, generalised GM1, type 3" RELATED OMO:0003005 [] synonym: "gangliosidosis, generalized GM1, adult type" RELATED [OMIM:230650] synonym: "gangliosidosis, generalized GM1, chronic type" RELATED [OMIM:230650] synonym: "gangliosidosis, generalized GM1, type 3" RELATED [OMIM:230650] synonym: "GM1-gangliosidosis, type 3" RELATED [OMIM:230650] synonym: "GM1-gangliosidosis, type III" RELATED [OMIM:230650] xref: DOID:0080489 {source="MONDO:equivalentTo"} xref: OMIM:230650 {source="Orphanet:79257/e", source="MONDO:equivalentTo", source="Orphanet:79257"} xref: Orphanet:79257 {source="MONDO:equivalentTo", source="OMIM:230650"} xref: SCTID:238027003 {source="MONDO:equivalentTo"} is_a: MONDO:0018149 {source="DC-OMIM:230650", source="Orphanet:79257"} ! GM1 gangliosidosis property_value: exactMatch DOID:0080489 property_value: exactMatch http://identifiers.org/snomedct/238027003 property_value: exactMatch https://omim.org/entry/230650 property_value: exactMatch Orphanet:79257 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2431/gm1-gangliosidosis-type-3 xsd:anyURI {source="GARD:0002431"} [Term] id: MONDO:0009263 name: GAPO syndrome def: "A multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations" [Orphanet:2067] subset: gard_rare {source="GARD:0000400"} subset: ordo_malformation_syndrome {source="Orphanet:2067"} synonym: "gapo syndrome" EXACT [OMIM:230740] synonym: "Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome" EXACT [Orphanet:2067] synonym: "Growth retardation, alopecia, pseudoanodontia and optic atrophy" RELATED [GARD:0000400] synonym: "Growth retardation, alopecia, pseudoanodontia, and optic atrophy" RELATED [OMIM:230740] xref: DOID:0112249 {source="MONDO:equivalentTo"} xref: MESH:C535642 {source="MONDO:equivalentTo"} xref: OMIM:230740 {source="Orphanet:2067", source="MONDO:equivalentTo", source="Orphanet:2067/e"} xref: Orphanet:2067 {source="MONDO:equivalentTo", source="OMIM:230740"} xref: SCTID:721843003 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:2067"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0019287 {source="Orphanet:2067"} ! ectodermal dysplasia syndrome property_value: exactMatch DOID:0112249 property_value: exactMatch http://identifiers.org/mesh/C535642 property_value: exactMatch http://identifiers.org/snomedct/721843003 property_value: exactMatch https://omim.org/entry/230740 property_value: exactMatch Orphanet:2067 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2067"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/400/gapo-syndrome xsd:anyURI {source="GARD:0000400"} [Term] id: MONDO:0009265 name: Gaucher disease type I def: "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." [Orphanet:77259] subset: ordo_clinical_subtype {source="Orphanet:77259"} synonym: "acid Beta-glucosidase deficiency" EXACT [DOID:0110957] synonym: "Gaucher disease type 1" RELATED [Orphanet:77259] synonym: "Gaucher disease type I" EXACT [] synonym: "Gaucher disease, noncerebral juvenile" EXACT [DOID:0110957, OMIM:230800] synonym: "Gaucher disease, type 1" RELATED [OMIM:230800] synonym: "Gaucher disease, type I" RELATED [OMIM:230800] synonym: "Gaucher's disease type I" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] synonym: "Gba deficiency" EXACT [DOID:0110957, OMIM:230800] synonym: "Gd 1" RELATED [OMIM:230800] synonym: "GD I" EXACT [DOID:0110957] synonym: "non-cerebral juvenile Gaucher disease" EXACT [Orphanet:77259] xref: DOID:0110957 {source="MONDO:equivalentTo"} xref: OMIM:230800 {source="Orphanet:77259", source="MONDO:equivalentTo", source="DOID:0110957", source="Orphanet:77259/e"} xref: Orphanet:77259 {source="OMIM:230800", source="MONDO:equivalentTo", source="DOID:0110957"} is_a: MONDO:0016340 ! familial restrictive cardiomyopathy is_a: MONDO:0018150 {source="DC-OMIM:230800", source="DOID:0110957", source="Orphanet:77259"} ! Gaucher disease is_a: MONDO:0018374 {source="MONDO:0018377-obsoleted"} ! secondary avascular necrosis is_a: MONDO:0018384 {source="MONDO:0018377-obsoleted"} ! avascular necrosis of genetic origin is_a: MONDO:0020143 {source="Orphanet:77259"} ! cerebral lipidosis with dementia property_value: exactMatch DOID:0110957 property_value: exactMatch https://omim.org/entry/230800 property_value: exactMatch Orphanet:77259 [Term] id: MONDO:0009266 name: Gaucher disease type II def: "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." [Orphanet:77260] subset: ordo_clinical_subtype {source="Orphanet:77260"} synonym: "acute neuronopathic Gaucher disease" EXACT [Orphanet:77260] synonym: "Gaucher disease type 2" RELATED [Orphanet:77260] synonym: "Gaucher disease type II" EXACT [] synonym: "Gaucher disease, acute neuronopathic type" EXACT [DOID:0110958, OMIM:230900] synonym: "Gaucher disease, infantile cerebral" RELATED [GARD:0002442] synonym: "Gaucher disease, type 2" RELATED [OMIM:230900] synonym: "Gaucher disease, type II" RELATED [OMIM:230900] synonym: "Gaucher's disease type II" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] synonym: "Gd 2" RELATED [OMIM:230900] synonym: "GD II" EXACT [DOID:0110958] synonym: "infantile cerebral Gaucher disease" EXACT [DOID:0110958, Orphanet:77260] xref: DOID:0110958 {source="MONDO:equivalentTo"} xref: OMIM:230900 {source="DOID:0110958", source="MONDO:equivalentTo", source="Orphanet:77260", source="Orphanet:77260/e"} xref: Orphanet:77260 {source="OMIM:230900", source="DOID:0110958", source="MONDO:equivalentTo"} xref: SCTID:12246008 {source="MONDO:equivalentTo"} is_a: MONDO:0018150 {source="DC-OMIM:230900", source="DOID:0110958", source="Orphanet:77260"} ! Gaucher disease property_value: exactMatch DOID:0110958 property_value: exactMatch http://identifiers.org/snomedct/12246008 property_value: exactMatch https://omim.org/entry/230900 property_value: exactMatch Orphanet:77260 property_value: excluded_subClassOf MONDO:0002561 {source="DOID:0110958/inferred", source="Orphanet:77260/inferred", source="PMID:21723623"} property_value: excluded_subClassOf MONDO:0017014 property_value: excluded_subClassOf MONDO:0019255 {source="MONDO:0018299-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} property_value: excluded_subClassOf MONDO:0020143 {source="Orphanet:77260"} [Term] id: MONDO:0009267 name: Gaucher disease type III def: "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." [Orphanet:77261] subset: ordo_clinical_subtype {source="Orphanet:77261"} synonym: "cerebral juvenile and adult form of Gaucher disease" EXACT [Orphanet:77261] synonym: "chronic neuronopathic Gaucher disease" EXACT [Orphanet:77261] synonym: "Gaucher disease type 3" RELATED [Orphanet:77261] synonym: "Gaucher disease type III" EXACT [] synonym: "Gaucher disease, chronic neuronopathic type" EXACT [DOID:0110959] synonym: "Gaucher disease, juvenile and adult, cerebral" EXACT [DOID:0110959, OMIM:231000] synonym: "Gaucher disease, Norrbottnian type" RELATED [OMIM:231000] synonym: "Gaucher disease, Subacute neuronopathic type" EXACT [DOID:0110959, OMIM:231000] synonym: "Gaucher disease, subacute neuronopathic type" EXACT [Orphanet:77261] synonym: "Gaucher disease, type 3" RELATED [OMIM:231000] synonym: "Gaucher disease, type 3A" RELATED [OMIM:231000] synonym: "Gaucher disease, type 3B" RELATED [OMIM:231000] synonym: "Gaucher disease, type III" RELATED [OMIM:231000] synonym: "Gaucher's disease type III" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] synonym: "Gd 3" RELATED [OMIM:231000] synonym: "GD III" EXACT [DOID:0110959] xref: DOID:0110959 {source="MONDO:equivalentTo"} xref: OMIM:231000 {source="MONDO:equivalentTo", source="Orphanet:77261", source="DOID:0110959", source="Orphanet:77261/e"} xref: Orphanet:77261 {source="MONDO:equivalentTo", source="OMIM:231000", source="DOID:0110959"} xref: SCTID:5963005 {source="MONDO:equivalentTo"} is_a: MONDO:0018150 {source="DC-OMIM:231000", source="DOID:0110959", source="Orphanet:77261"} ! Gaucher disease property_value: exactMatch DOID:0110959 property_value: exactMatch http://identifiers.org/snomedct/5963005 property_value: exactMatch https://omim.org/entry/231000 property_value: exactMatch Orphanet:77261 property_value: excluded_subClassOf MONDO:0002561 {source="DOID:0110959/inferred", source="Orphanet:77261/inferred", source="PMID:21723623"} property_value: excluded_subClassOf MONDO:0016340 property_value: excluded_subClassOf MONDO:0017014 property_value: excluded_subClassOf MONDO:0018374 {source="MONDO:0018377-obsoleted"} property_value: excluded_subClassOf MONDO:0018384 {source="MONDO:0018377-obsoleted"} property_value: excluded_subClassOf MONDO:0019255 {source="MONDO:0018299-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} property_value: excluded_subClassOf MONDO:0020143 {source="Orphanet:77261"} [Term] id: MONDO:0009268 name: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome def: "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." [Orphanet:2072] subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:2072"} synonym: "cardiovascular Gaucher disease" EXACT [Orphanet:2072] synonym: "Gaucher disease - ophthalmoplegia - cardiovascular calcification" RELATED [GARD:0012504] synonym: "Gaucher disease type 3C" EXACT [Orphanet:2072] synonym: "Gaucher disease, type 3C" RELATED [OMIM:231005] synonym: "Gaucher disease, type IIIC" RELATED [OMIM:231005] synonym: "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome" EXACT [] synonym: "Gaucher-like disease" EXACT [Orphanet:2072] synonym: "pseudo Gaucher disease" RELATED [GARD:0002445] xref: DOID:0112250 {source="MONDO:equivalentTo"} xref: MESH:C565553 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: OMIM:231005 {source="Orphanet:2072/e", source="GARD:0002445", source="MONDO:equivalentTo", source="Orphanet:2072"} xref: Orphanet:2072 {source="MONDO:equivalentTo", source="OMIM:231005"} xref: UMLS:C1856476 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2072", source="OMIM:231005"} xref: UMLS:C2931585 {source="Orphanet:2072/e", source="GARD:0002445", source="MONDO:equivalentTo", source="Orphanet:2072"} is_a: MONDO:0018150 {source="Orphanet:2072"} ! Gaucher disease property_value: exactMatch DOID:0112250 property_value: exactMatch http://identifiers.org/mesh/C565553 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856476 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931585 property_value: exactMatch https://omim.org/entry/231005 property_value: exactMatch Orphanet:2072 [Term] id: MONDO:0009270 name: genito-palato-cardiac syndrome def: "Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies." [Orphanet:2075] subset: gard_rare {source="GARD:0002460"} subset: ordo_malformation_syndrome {source="Orphanet:2075"} synonym: "Gardner-Silengo-Wachtel syndrome" EXACT [OMIM:231060, Orphanet:2075] synonym: "genito palato cardiac syndrome" RELATED [GARD:0002460] synonym: "GENITOPALATOCARDIAC syndrome" RELATED [OMIM:231060] synonym: "Male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal Cardiac defect" RELATED [OMIM:231060] xref: MESH:C537683 {source="Orphanet:2075/e", source="MONDO:equivalentTo", source="Orphanet:2075"} xref: OMIM:231060 {source="Orphanet:2075/e", source="MONDO:equivalentTo", source="Orphanet:2075"} xref: Orphanet:2075 {source="OMIM:231060", source="MONDO:equivalentTo"} xref: UMLS:C1856466 {source="OMIM:231060", source="Orphanet:2075/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2075"} is_a: EFO:0001379 ! endocrine system disease is_a: MONDO:0015161 {source="Orphanet:2075"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch http://identifiers.org/mesh/C537683 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856466 property_value: exactMatch https://omim.org/entry/231060 property_value: exactMatch Orphanet:2075 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2460/genito-palato-cardiac-syndrome xsd:anyURI {source="GARD:0002460"} [Term] id: MONDO:0009271 name: geroderma osteodysplastica def: "Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." [Orphanet:2078] subset: gard_rare {source="GARD:0000413"} subset: ordo_malformation_syndrome {source="Orphanet:2078"} synonym: "geroderma osteodysplastica" EXACT [] synonym: "GERODERMA OSTEODYSPLASTICUM" RELATED [MONDO:Lexical, OMIM:231070] synonym: "Geroderma osteodysplasticum" RELATED [GARD:0000413] synonym: "Gerodermia osteodysplastica" RELATED [OMIM:231070] synonym: "GO" RELATED ABBREVIATION [MONDO:Lexical, OMIM:231070] synonym: "Walt Disney dwarfism" RELATED [OMIM:231070] xref: DOID:0111266 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537799 {source="Orphanet:2078", source="MONDO:equivalentTo", source="Orphanet:2078/e"} xref: OMIM:231070 {source="Orphanet:2078", source="MONDO:equivalentTo", source="Orphanet:2078/e"} xref: Orphanet:2078 {source="OMIM:231070", source="MONDO:equivalentTo"} xref: SCTID:254116003 {source="MONDO:equivalentTo"} xref: UMLS:C0432255 {source="Orphanet:2078", source="OMIM:231070", source="MONDO:equivalentTo", source="Orphanet:2078/e", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0100237 {source="Orphanet:2078"} ! inherited cutis laxa is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. property_value: exactMatch DOID:0111266 property_value: exactMatch http://identifiers.org/mesh/C537799 property_value: exactMatch http://identifiers.org/snomedct/254116003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432255 property_value: exactMatch https://omim.org/entry/231070 property_value: exactMatch Orphanet:2078 property_value: excluded_subClassOf MONDO:0019704 {source="Orphanet:2078"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/413/geroderma-osteodysplastica xsd:anyURI {source="GARD:0000413"} [Term] id: MONDO:0009272 name: German syndrome def: "German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987." [Orphanet:2077] subset: ordo_malformation_syndrome {source="Orphanet:2077"} synonym: "German syndrome" EXACT [OMIM:231080] xref: MESH:C562543 {source="MONDO:equivalentTo"} xref: OMIM:231080 {source="Orphanet:2077", source="MONDO:equivalentTo", source="Orphanet:2077/e"} xref: Orphanet:2077 {source="MONDO:equivalentTo", source="OMIM:231080"} xref: SCTID:733037000 {source="MONDO:equivalentTo"} xref: UMLS:C3887495 {source="Orphanet:2077", source="MONDO:equivalentTo"} is_a: MONDO:0016009 ! fetal trimethadione syndrome is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema is_a: MONDO:0019520 {source="Orphanet:2077"} ! syndromic lymphedema property_value: exactMatch http://identifiers.org/mesh/C562543 property_value: exactMatch http://identifiers.org/snomedct/733037000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3887495 property_value: exactMatch https://omim.org/entry/231080 property_value: exactMatch Orphanet:2077 [Term] id: MONDO:0009273 name: hydatidiform mole, recurrent, 1 def: "Any complete hydatidiform mole in which the cause of the disease is a mutation in the NLRP7 gene." [MONDO:patterns/disease_series_by_gene] synonym: "complete hydatidiform mole caused by mutation in NLRP7" EXACT [MONDO:design_pattern] synonym: "gestational trophoblastic disease" RELATED [OMIM:231090] synonym: "hydatidiform mole" RELATED [OMIM:231090] synonym: "hydatidiform Mole, complete" RELATED [OMIM:231090] synonym: "hydatidiform MOLE, recurrent, 1" RELATED [OMIM:231090] synonym: "hydatidiform mole, recurrent, 1" EXACT [MONDO:Lexical, OMIM:231090] synonym: "hydatidiform Mole, recurrent, type 1" EXACT [MONDORULE:1, OMIM:231090] synonym: "HYDM1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:231090] synonym: "NLRP7 complete hydatidiform mole" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: OMIM:231090 {source="MONDO:equivalentTo"} xref: UMLS:C3463897 {source="MONDO:equivalentTo", source="OMIM:231090"} is_a: MONDO:0016785 {source="MONDO:Redundant", source="Orphanet:254688/btnt"} ! complete hydatidiform mole is_a: MONDO:0018944 {source="DC-OMIM:231090"} ! gestational trophoblastic neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3463897 property_value: exactMatch https://omim.org/entry/231090 [Term] id: MONDO:0009274 name: ghosal hematodiaphyseal dysplasia def: "Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia." [Orphanet:1802] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1802"} synonym: "diaphyseal dysplasia-anemia syndrome" EXACT [Orphanet:1802] synonym: "GHDD" RELATED ABBREVIATION [GARD:0010297, MONDO:Lexical, OMIM:231095] synonym: "GHOSAL hematodiaphyseal dysplasia" RELATED [OMIM:231095] synonym: "ghosal hematodiaphyseal dysplasia" EXACT [GARD:0010297, MONDO:Lexical, OMIM:231095] synonym: "Ghosal hematodiaphyseal dysplasia syndrome" RELATED [GARD:0010297] synonym: "Ghosal hematodiaphyseal syndrome" EXACT [OMIM:231095, OMIM:genemap2] synonym: "Ghosal syndrome" EXACT [GARD:0010297, OMIM:231095, Orphanet:1802] xref: DOID:0112251 {source="MONDO:equivalentTo"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C565551 {source="MONDO:equivalentTo"} xref: OMIM:231095 {source="Orphanet:1802/e", source="GARD:0010297", source="MONDO:equivalentTo", source="Orphanet:1802"} xref: Orphanet:1802 {source="OMIM:231095", source="GARD:0010297", source="MONDO:equivalentTo"} xref: SCTID:389214003 {source="MONDO:equivalentTo"} is_a: MONDO:0800084 {source="PMID:31633310"} ! primary bone dysplasia with increased bone density property_value: exactMatch DOID:0112251 property_value: exactMatch http://identifiers.org/mesh/C565551 property_value: exactMatch http://identifiers.org/snomedct/389214003 property_value: exactMatch https://omim.org/entry/231095 property_value: exactMatch Orphanet:1802 property_value: excluded_subClassOf MONDO:0019703 {source="Orphanet:1802"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10297/ghosal-hematodiaphyseal-dysplasia-syndrome xsd:anyURI {source="GARD:0010297"} [Term] id: MONDO:0009275 name: neonatal hemochromatosis def: "Neonatal hemochromatosis is a disease in which too much iron builds up inthe body. In this form of hemochromatosis the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first day of life. There are a number of other forms of hemochromatosis. To learn more about these other forms click on the disease names listed below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4" [https://rarediseases.info.nih.gov/diseases/7172/neonatal-hemochromatosis] subset: gard_rare {source="GARD:0007172"} subset: ordo_disease {source="Orphanet:446"} synonym: "alloimmune Hepatitis, congenital" RELATED [OMIM:231100] synonym: "giant cell Hepatitis" RELATED [OMIM:231100] synonym: "giant cell Hepatitis (formerly)" RELATED [GARD:0007172] synonym: "giant cell Hepatitis, formerly" RELATED [OMIM:231100] synonym: "hemochromatosis neonatal" RELATED [GARD:0007172] synonym: "hemochromatosis, neonatal" RELATED [OMIM:231100] synonym: "idiopathic neonatal hemochromatosis" RELATED [GARD:0007172] synonym: "neonatal Hepatitis" RELATED [OMIM:231100] synonym: "neonatal hepatitis (formerly)" RELATED [GARD:0007172] synonym: "neonatal Hepatitis, formerly" RELATED [OMIM:231100] synonym: "Nh" RELATED [OMIM:231100] synonym: "Nhc" RELATED [OMIM:231100] xref: MESH:C536394 {source="Orphanet:446", source="MONDO:equivalentTo", source="Orphanet:446/e"} xref: NCIT:C129980 {source="MONDO:equivalentTo"} xref: OMIM:231100 {source="Orphanet:446", source="MONDO:equivalentTo", source="Orphanet:446/e"} xref: Orphanet:446 {source="MONDO:equivalentTo", source="OMIM:231100"} xref: UMLS:C0268059 {source="NCIT:C129980", source="Orphanet:446", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:231100", source="Orphanet:446/e"} is_a: MONDO:0006507 {source="DC-OMIM:231100", source="MESH:C536394", source="MONDO:Redundant"} ! hereditary hemochromatosis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare property_value: exactMatch http://identifiers.org/mesh/C536394 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268059 property_value: exactMatch https://omim.org/entry/231100 property_value: exactMatch NCIT:C129980 property_value: exactMatch Orphanet:446 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7172/neonatal-hemochromatosis xsd:anyURI {source="GARD:0007172"} [Term] id: MONDO:0009276 name: Bernard-Soulier syndrome def: "Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination." [Orphanet:274] subset: ordo_disease {source="Orphanet:274"} synonym: "Bernard - Soulier thrombopathy" EXACT [DOID:2217] synonym: "Bernard Soulier syndrome" EXACT [DOID:2217] synonym: "Bernard-Soulier syndrome" EXACT [MONDO:Lexical, OMIM:231200] synonym: "Bernard-Soulier syndrome, type A1" RELATED [OMIM:231200] synonym: "Bernard-Soulier syndrome, type A1 (recessive)" EXACT [OMIM:231200, OMIM:genemap2] synonym: "Bernard-Soulier syndrome, type B" RELATED [OMIM:231200] synonym: "Bernard-Soulier syndrome, type C" RELATED [OMIM:231200] synonym: "bleeding disorder, Platelet-type, 1" RELATED [OMIM:231200] synonym: "BSS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:231200] synonym: "deficiency of platelet glycoprotein 1b" RELATED [GARD:0002470] synonym: "giant platelet disease" RELATED [GARD:0002470] synonym: "giant platelet disorder, isolated" EXACT [OMIM:231200, OMIM:genemap2] synonym: "giant platelet syndrome" EXACT [Orphanet:274] synonym: "glycoprotein Ib, Platelet, deficiency of" RELATED [OMIM:231200] synonym: "hemorrhagic dystrophic thrombocytopenia" EXACT [DOID:2217] synonym: "Hemorrhagiparous thrombocytic dystrophy" EXACT [Orphanet:274] synonym: "macrothrombocytopenia, familial Bernard-Soulier type" RELATED [GARD:0002470] synonym: "Platelet glycoprotein 1b, deficiency of" RELATED [GARD:0002470] synonym: "Platelet glycoprotein Ib deficiency" RELATED [OMIM:231200] synonym: "thrombopathy, Bernard-Soulier" EXACT [DOID:2217] synonym: "Von Willebrand Factor receptor deficiency" RELATED [OMIM:231200] xref: DOID:2217 {source="MONDO:equivalentTo"} xref: MedDRA:10057473 {source="Orphanet:274/e", source="Orphanet:274"} xref: MESH:D001606 {source="Orphanet:274/e", source="MONDO:equivalentTo", source="DOID:2217", source="Orphanet:274"} xref: NCIT:C84595 {source="MONDO:equivalentTo", source="DOID:2217"} xref: OMIM:231200 {source="Orphanet:274/e", source="MONDO:equivalentTo", source="DOID:2217", source="Orphanet:274"} xref: Orphanet:274 {source="MONDO:equivalentTo", source="DOID:2217", source="OMIM:231200"} xref: SCTID:234478007 {source="MONDO:equivalentTo", source="DOID:2217"} xref: UMLS:C0005129 {source="Orphanet:274/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:2217", source="OMIM:231200", source="NCIT:C84595", source="Orphanet:274"} is_a: MONDO:0000009 {source="DC-OMIM:231200", source="MONDO:Redundant", source="OMIM:231200"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0002254 {source="NCIT:C84595"} ! syndromic disease is_a: MONDO:0016361 {source="Orphanet:274"} ! isolated hereditary giant platelet disorder property_value: closeMatch http://identifiers.org/meddra/10057473 property_value: exactMatch DOID:2217 property_value: exactMatch http://identifiers.org/mesh/D001606 property_value: exactMatch http://identifiers.org/snomedct/234478007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005129 property_value: exactMatch https://omim.org/entry/231200 property_value: exactMatch NCIT:C84595 property_value: exactMatch Orphanet:274 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009279 name: triple-A syndrome def: "Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." [Orphanet:869] subset: gard_rare {source="GARD:0000457"} subset: ordo_disease {source="Orphanet:869"} synonym: "2A syndrome" EXACT [Orphanet:869] synonym: "3A syndrome" EXACT [Orphanet:869] synonym: "4A syndrome" EXACT [Orphanet:869] synonym: "AAA" RELATED ABBREVIATION [GARD:0000457] synonym: "AAA syndrome" EXACT [Orphanet:869] synonym: "AAAS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:231550] synonym: "achalasia addisonianism alacrimia syndrome" RELATED [GARD:0000457] synonym: "achalasia alacrima syndrome" RELATED [GARD:0000457] synonym: "achalasia-addisonianism-alacrima syndrome" EXACT [MONDO:Lexical, OMIM:231550, Orphanet:869] synonym: "achalasia-addisonianism-alacrimia syndrome" EXACT [DOID:0050602] synonym: "achalasia-alacrima syndrome" RELATED [OMIM:231550] synonym: "ACTH-resistant adrenal insufficiency, achalasia and alacrima" RELATED [OMIM:231550] synonym: "Addisonian achalasia syndrome" RELATED [GARD:0000457] synonym: "Addisonian-achalasia syndrome" RELATED [OMIM:231550] synonym: "adrenal insufficiency-achalasia-alacrima syndrome" EXACT [Orphanet:869] synonym: "alacrima-achalasia-addisonianism" RELATED [OMIM:231550] synonym: "alacrima-achalasia-adrenal insufficiency neurologic disorder" RELATED [OMIM:231550] synonym: "Allgrove syndrome" EXACT [DOID:0050602, OMIM:231550, Orphanet:869] synonym: "Double A syndrome" EXACT [Orphanet:869] synonym: "glucocorticoid deficiency and achalasia" RELATED [OMIM:231550] synonym: "hypoadrenalism with achalasia" RELATED [OMIM:231550] synonym: "quaternary A syndrome" EXACT [Orphanet:869] synonym: "triple A syndrome" RELATED [GARD:0000457] synonym: "triple-a syndrome" EXACT [OMIM:231550] xref: DOID:0050602 {source="MONDO:equivalentTo"} xref: EFO:1001997 {source="MONDO:equivalentTo"} xref: ICD9:255.41 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536008 {source="MONDO:equivalentTo", source="Orphanet:869", source="Orphanet:869/e"} xref: NCIT:C131005 {source="MONDO:equivalentObsolete"} xref: OMIM:231550 {source="MONDO:equivalentTo", source="Orphanet:869", source="DOID:0050602", source="Orphanet:869/e"} xref: Orphanet:869 {source="MONDO:equivalentTo", source="OMIM:231550"} xref: SCTID:45414006 {source="MONDO:equivalentTo"} is_a: EFO:1000017 {source="DOID:0050602", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015129 {source="Orphanet:869", source="Orphanet:869/inferred"} ! chronic primary adrenal insufficiency is_a: MONDO:0015208 {source="Orphanet:869"} ! syndromic esophageal malformation is_a: MONDO:0020127 {source="MONDO:0016132-obsoleted"} ! hereditary peripheral neuropathy is_a: MONDO:0020194 {source="Orphanet:869"} ! congenital alacrima property_value: exactMatch DOID:0050602 property_value: exactMatch http://identifiers.org/mesh/C536008 property_value: exactMatch http://identifiers.org/snomedct/45414006 property_value: exactMatch https://omim.org/entry/231550 property_value: exactMatch Orphanet:869 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/457/triple-a-syndrome xsd:anyURI {source="GARD:0000457"} [Term] id: MONDO:0009281 name: glutaryl-CoA dehydrogenase deficiency def: "Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder." [Orphanet:25] subset: ordo_disease {source="Orphanet:25"} synonym: "Ga 1" RELATED [OMIM:231670] synonym: "GA1" EXACT ABBREVIATION [Orphanet:25] synonym: "GCDHD" EXACT ABBREVIATION [Orphanet:25] synonym: "glutaric acidemia 1" RELATED [GARD:0006522, OMIM:231670] synonym: "glutaric acidemia I" RELATED [OMIM:231670] synonym: "glutaric acidemia type 1" EXACT [MONDORULE:1, OMIM:231670, Orphanet:25] synonym: "glutaric acidemia type I" RELATED [GARD:0006522] synonym: "glutaric acidemia, type 1" RELATED [] synonym: "glutaric aciduria 1" RELATED [OMIM:231670] synonym: "glutaric aciduria type 1" EXACT [Orphanet:25] synonym: "glutaric aciduria type I" RELATED [] synonym: "glutaric aciduria, type 1" EXACT [NCIT:C99101] synonym: "glutaricaciduria, type I" EXACT [OMIM:231670, OMIM:genemap2] synonym: "glutaryl-CoA dehydrogenase deficiency" EXACT [OMIM:231670] synonym: "glutaryl-coenzyme A dehydrogenase deficiency" EXACT [Orphanet:25] xref: DOID:0111254 {source="MONDO:equivalentTo"} xref: ICD10CM:E72.3 {source="Orphanet:25/ntbt", source="MONDO:relatedTo", source="Orphanet:25/inclusion", source="Orphanet:25"} xref: MESH:C536833 {source="Orphanet:25", source="MONDO:equivalentTo", source="Orphanet:25/e"} xref: NCIT:C99101 {source="MONDO:equivalentTo"} xref: OMIM:231670 {source="Orphanet:25", source="MONDO:equivalentTo", source="Orphanet:25/e"} xref: Orphanet:25 {source="MONDO:equivalentTo", source="OMIM:231670"} xref: SCTID:76175005 {source="MONDO:equivalentTo"} xref: UMLS:C0268595 {source="Orphanet:25", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:231670", source="NCIT:C99101", source="Orphanet:25/e"} is_a: MONDO:0000129 {source="DC-OMIM:231670"} ! glutaric aciduria is_a: MONDO:0019213 {source="Orphanet:25"} ! cerebral organic aciduria property_value: exactMatch DOID:0111254 property_value: exactMatch http://identifiers.org/mesh/C536833 property_value: exactMatch http://identifiers.org/snomedct/76175005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268595 property_value: exactMatch https://omim.org/entry/231670 property_value: exactMatch NCIT:C99101 property_value: exactMatch Orphanet:25 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0009282 name: multiple acyl-CoA dehydrogenase deficiency def: "A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." [https://doi.org/10.1016/B978-0-323-40139-5.00087-5, https://github.com/monarch-initiative/mondo/issues/1569, Orphanet:26791] comment: Also known as glutaric acidemia II. Referenced from Glutaric aciduria, type I (231670). {source="OMIM:231680"} subset: ordo_disease {source="Orphanet:26791"} synonym: "electron transfer flavoprotein deficiency" EXACT [DOID:0060358] synonym: "electron transfer flavoprotein ubiquinone oxidoreductase deficiency" EXACT [DOID:0060358] synonym: "EMA" RELATED ABBREVIATION [GARD:0006523] synonym: "Etfa deficiency" NARROW [OMIM:231680] synonym: "Etfb deficiency" NARROW [OMIM:231680] synonym: "Etfdh deficiency" NARROW [OMIM:231680] synonym: "ethylmalonic-Adipicaciduria" RELATED [OMIM:231680] synonym: "Ga 2" RELATED [OMIM:231680] synonym: "glutaric acidemia 2" RELATED [OMIM:231680] synonym: "glutaric acidemia 2A" NARROW [OMIM:231680] synonym: "glutaric acidemia 2B" NARROW [OMIM:231680] synonym: "glutaric acidemia 2C" NARROW [OMIM:231680] synonym: "glutaric acidemia IIA" NARROW [OMIM:231680, OMIM:genemap2] synonym: "glutaric acidemia IIB" NARROW [OMIM:231680, OMIM:genemap2] synonym: "glutaric acidemia IIC" NARROW [OMIM:231680, OMIM:genemap2] synonym: "glutaric acidemia type 2" EXACT [DOID:0060358, Orphanet:26791] synonym: "glutaric acidemia type II" EXACT [GARD:0006523, https://orcid.org/0000-0001-6330-7526, OMIM:231680] synonym: "glutaric aciduria 2" RELATED [OMIM:231680] synonym: "glutaric aciduria type 2" EXACT [DOID:0060358, Orphanet:26791] synonym: "glutaric aciduria, type 2" EXACT [NCIT:C84907] synonym: "MAD deficiency" EXACT [DOID:0060358, Orphanet:26791] synonym: "MADD" EXACT ABBREVIATION [DOID:0060358, MONDO:Lexical, OMIM:231680, Orphanet:26791] synonym: "multiple acyl Coenzyme A dehydrogenase deficiency" EXACT [NCIT:C84907] synonym: "multiple acyl-CoA dehydrogenase deficiency" EXACT [MONDO:Lexical, OMIM:231680] xref: DOID:0060358 {source="MONDO:equivalentTo"} xref: NCIT:C84907 {source="DOID:0060358", source="MONDO:equivalentTo"} xref: OMIM:231680 {source="DOID:0060358", source="MONDO:equivalentTo", source="Orphanet:26791", source="Orphanet:26791/e"} xref: Orphanet:26791 {source="OMIM:231680", source="DOID:0060358", source="MONDO:equivalentTo"} xref: UMLS:C0268596 {source="OMIM:231680", source="DOID:0060358", source="MONDO:equivalentTo", source="Orphanet:26791", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C84907"} is_a: MONDO:0000129 {source="DC-OMIM:231680"} ! glutaric aciduria is_a: MONDO:0004069 {source="https://github.com/monarch-initiative/mondo/issues/1569"} ! inborn mitochondrial metabolism disorder is_a: MONDO:0017714 {source="Orphanet:26791"} ! acyl-CoA dehydrogenase deficiency is_a: MONDO:0024573 ! familial hypertrophic cardiomyopathy property_value: exactMatch DOID:0060358 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268596 property_value: exactMatch https://omim.org/entry/231680 property_value: exactMatch NCIT:C84907 property_value: exactMatch Orphanet:26791 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4691 xsd:anyURI [Term] id: MONDO:0009283 name: glutaric acidemia type 3 def: "Glutaryl-CoA oxidase deficiency is a peroxisomal disorder leading to glutaric aciduria. The prevalence is unknown. There is no distinctive phenotype associated with this disorder and one of the reported cases was asymptomatic. Transmission appears to be autosomal recessive." [Orphanet:35706] subset: gard_rare {source="GARD:0012469"} subset: ordo_disease {source="Orphanet:35706"} synonym: "Ga 3" RELATED [OMIM:231690] synonym: "GA III" RELATED [GARD:0012469] synonym: "GA3" RELATED ABBREVIATION [OMIM:231690] synonym: "glutaric acidemia type 3" EXACT [] synonym: "glutaric acidemia type III" RELATED [GARD:0012469] synonym: "glutaric aciduria (disease) caused by mutation in SUGCT" EXACT [] synonym: "glutaric aciduria 3" RELATED [OMIM:231690] synonym: "glutaric aciduria III" RELATED [OMIM:231690] synonym: "glutaric aciduria type 3" EXACT [MONDORULE:1, OMIM:231690, Orphanet:35706] synonym: "glutaric aciduria type III" RELATED [GARD:0012469] synonym: "glutaryl-CoA oxidase deficiency" EXACT [Orphanet:35706] synonym: "glutaryl-Coa oxidase deficiency" RELATED [OMIM:231690] synonym: "SUGCT glutaric aciduria (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0112246 {source="MONDO:equivalentTo"} xref: ICD10CM:E72.3 {source="MONDO:relatedTo", source="Orphanet:35706", source="Orphanet:35706/attributed", source="Orphanet:35706/ntbt"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562818 {source="MONDO:equivalentTo"} xref: OMIM:231690 {source="MONDO:equivalentTo", source="Orphanet:35706", source="Orphanet:35706/e"} xref: Orphanet:35706 {source="OMIM:231690", source="MONDO:equivalentTo"} xref: SCTID:238070003 {source="MONDO:equivalentTo"} xref: UMLS:C0342873 {source="OMIM:231690", source="MONDO:equivalentTo", source="Orphanet:35706", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:35706/e"} is_a: MONDO:0000129 {source="DC-OMIM:231690", source="MONDO:Redundant"} ! glutaric aciduria is_a: MONDO:0000688 {source="PMID:33340416"} ! inborn organic aciduria property_value: exactMatch DOID:0112246 property_value: exactMatch http://identifiers.org/mesh/C562818 property_value: exactMatch http://identifiers.org/snomedct/238070003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342873 property_value: exactMatch https://omim.org/entry/231690 property_value: exactMatch Orphanet:35706 property_value: excluded_subClassOf MONDO:0017753 {source="Orphanet:35706"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12469/glutaric-acidemia-type-iii xsd:anyURI {source="GARD:0012469"} [Term] id: MONDO:0009284 name: glutathione synthetase deficiency without 5-oxoprolinuria subset: ordo_clinical_subtype {source="Orphanet:289849"} synonym: "glutathione synthetase deficiency of erythrocytes, hemolytic anaemia due to" RELATED OMO:0003005 [] synonym: "glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to" RELATED [MONDO:Lexical, OMIM:231900] synonym: "GSSDE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:231900] synonym: "hemolytic anaemia due to glutathione synthetase deficiency" EXACT OMO:0003005 [] synonym: "hemolytic anemia due to glutathione synthetase deficiency" EXACT [OMIM:231900, OMIM:genemap2] xref: DOID:0112252 {source="MONDO:equivalentTo"} xref: MESH:C565545 {source="MONDO:equivalentTo"} xref: OMIM:231900 {source="Orphanet:289849/e", source="MONDO:equivalentTo", source="Orphanet:289849"} xref: Orphanet:289849 {source="OMIM:231900", source="MONDO:equivalentTo"} xref: UMLS:C1856399 {source="OMIM:231900", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:289849"} is_a: MONDO:0017909 {source="Orphanet:289849"} ! inherited glutathione synthetase deficiency property_value: exactMatch DOID:0112252 property_value: exactMatch http://identifiers.org/mesh/C565545 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856399 property_value: exactMatch https://omim.org/entry/231900 property_value: exactMatch Orphanet:289849 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0009285 name: gamma-glutamyl transpeptidase deficiency def: "Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine." [Orphanet:33573] subset: ordo_disease {source="Orphanet:33573"} synonym: "gamma-glutamyltransferase deficiency" RELATED [OMIM:231950] synonym: "gamma-glutamyltranspeptidase deficiency" RELATED [OMIM:231950] synonym: "GGT deficiency" RELATED [OMIM:231950] synonym: "GGT1 deficiency" RELATED [GARD:0010099] synonym: "glutathioninuria" EXACT [OMIM:231950, OMIM:genemap2] synonym: "glutathionuria" EXACT [OMIM:231950, Orphanet:33573] synonym: "GTG deficiency" RELATED [OMIM:231950] synonym: "inborn error of glutathione hydrolase activity" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn glutathione hydrolase activity disorder" EXACT [] synonym: "rare inborn error of glutathione hydrolase activity" EXACT [MONDO:patterns/inborn_metabolic] xref: DOID:0111257 {source="MONDO:equivalentTo"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536836 {source="MONDO:equivalentTo"} xref: OMIM:231950 {source="Orphanet:33573/e", source="MONDO:equivalentTo", source="Orphanet:33573"} xref: Orphanet:33573 {source="MONDO:equivalentTo", source="OMIM:231950"} xref: SCTID:78586005 {source="MONDO:equivalentTo"} xref: UMLS:C0268524 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:231950", source="Orphanet:33573"} is_a: MONDO:0040566 {source="PMID:33340416"} ! inherited glutathione metabolism disease property_value: exactMatch DOID:0111257 property_value: exactMatch http://identifiers.org/mesh/C536836 property_value: exactMatch http://identifiers.org/snomedct/78586005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268524 property_value: exactMatch https://omim.org/entry/231950 property_value: exactMatch Orphanet:33573 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0009287 name: glycogen storage disease due to glucose-6-phosphatase deficiency type IA def: "Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency." [Orphanet:79258] subset: ordo_clinical_subtype {source="Orphanet:79258"} synonym: "G6P deficiency type 1a" EXACT [Orphanet:79258] synonym: "G6PC glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "glucose-6-phosphatase deficiency" RELATED [OMIM:232200] synonym: "glucose-6-phosphatase deficiency glycogen storage disease" RELATED [GARD:0007864] synonym: "glycogen storage disease 1" RELATED [OMIM:232200] synonym: "glycogen storage disease 1A" RELATED [GARD:0007864] synonym: "glycogen storage disease caused by mutation in G6PC" EXACT [MONDO:design_pattern] synonym: "glycogen storage disease due to G6P deficiency type Ia" EXACT [Orphanet:79258] synonym: "glycogen storage disease Ia" RELATED [MONDO:Lexical, OMIM:232200] synonym: "glycogen storage disease type 1a" EXACT [Orphanet:79258] synonym: "glycogen storage disease type Ia" EXACT [MONDORULE:5, OMIM:232200] synonym: "glycogenosis due to glucose-6-phosphatase deficiency type 1a" EXACT [Orphanet:79258] synonym: "glycogenosis due to glucose-6-phosphatase deficiency type Ia" EXACT [Orphanet:79258] synonym: "glycogenosis type Ia" EXACT [Orphanet:79258] synonym: "GSD due to G6P deficiency type 1a" EXACT [Orphanet:79258] synonym: "GSD due to G6P deficiency type Ia" EXACT [Orphanet:79258] synonym: "GSD Ia" RELATED [OMIM:232200] synonym: "GSD type 1a" EXACT [Orphanet:79258] synonym: "GSD1" RELATED ABBREVIATION [GARD:0007864] synonym: "GSD1A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:232200] synonym: "GSDIa" EXACT [Orphanet:79258] synonym: "hepatorenal form of glycogen storage disease" RELATED [OMIM:232200] synonym: "hepatorenal glycogenosis" RELATED [OMIM:232200] synonym: "Von Gierke disease" RELATED [OMIM:232200] xref: DOID:2749 {source="MONDO:equivalentTo"} xref: MESH:C538655 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: OMIM:232200 {source="Orphanet:79258/e", source="MONDO:equivalentTo", source="Orphanet:79258"} xref: Orphanet:79258 {source="MONDO:equivalentTo", source="OMIM:232200"} xref: SCTID:444707001 {source="MONDO:equivalentTo"} xref: UMLS:C2919796 {source="MONDO:equivalentTo", source="Orphanet:79258"} xref: UMLS:CN069618 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:CN205860 {source="MONDO:equivalentTo"} is_a: MONDO:0002413 {source="Orphanet:79258"} ! glycogen storage disease I property_value: exactMatch DOID:2749 property_value: exactMatch http://identifiers.org/mesh/C538655 property_value: exactMatch http://identifiers.org/snomedct/444707001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2919796 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN069618 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205860 property_value: exactMatch https://omim.org/entry/232200 property_value: exactMatch Orphanet:79258 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0009288 name: glycogen storage disease Ib def: "A type of glycogenosis due to G6P deficiency." [Orphanet:79259] comment: Type Ic was merged with Ib because they involve the same gene. subset: ordo_clinical_subtype {source="Orphanet:79259"} synonym: "G6P deficiency type IB" EXACT [Orphanet:79259] synonym: "G6P translocase deficiency" EXACT [Orphanet:79259] synonym: "G6PT deficiency" EXACT [Orphanet:79259] synonym: "glucose-6-phosphate transport defect" EXACT [OMIM:232220] synonym: "glycogen storage disease due to G6P deficiency type IB" EXACT [Orphanet:79259] synonym: "glycogen storage disease Ib" EXACT [MONDO:Lexical, OMIM:232220] synonym: "glycogen storage disease Ic" EXACT [OMIM:232240] synonym: "glycogen storage disease type 1b" EXACT [Orphanet:79259] synonym: "glycogen storage disease type I non-a" EXACT [NCIT:C122661] synonym: "glycogen storage disease type IB" EXACT [MONDORULE:5, OMIM:232220, Orphanet:79259] synonym: "glycogen storage disease type Ic" EXACT [MONDORULE:5, OMIM:232240] synonym: "glycogenosis due to glucose-6-phosphatase deficiency type 1B" EXACT [Orphanet:79259] synonym: "glycogenosis due to glucose-6-phosphatase transport defect type IB" EXACT [Orphanet:79259] synonym: "glycogenosis type 1b" EXACT [Orphanet:79259] synonym: "glycogenosis type IB" EXACT [Orphanet:79259] synonym: "GSD due to G6P deficiency type IB" EXACT [Orphanet:79259] synonym: "GSD due to G6PT deficiency" EXACT [Orphanet:79259] synonym: "GSD Ib" EXACT [OMIM:232220] synonym: "GSD Ic" RELATED [OMIM:232240] synonym: "GSD type 1 non a" EXACT [Orphanet:79259] synonym: "GSD type 1b" EXACT [Orphanet:79259] synonym: "GSD type IB" EXACT [Orphanet:79259] synonym: "GSD1B" EXACT ABBREVIATION [MONDO:Lexical, OMIM:232220] synonym: "GSD1C" RELATED ABBREVIATION [OMIM:232240] synonym: "Gsd1C" RELATED [OMIM:232240] synonym: "GSDIb" EXACT [Orphanet:79259] xref: DOID:0081330 {source="MONDO:equivalentTo"} xref: DOID:0081331 {source="MONDO:equivalentTo"} xref: MESH:C562594 {source="MONDO:equivalentTo"} xref: NCIT:C122661 {source="MONDO:equivalentTo"} xref: OMIM:232220 {source="Orphanet:79259", source="MONDO:equivalentTo", source="Orphanet:79259/e"} xref: OMIM:232240 {source="Orphanet:79259", source="Orphanet:79259/btnt", source="MONDO:equivalentTo"} xref: Orphanet:79259 {source="OMIM:232240", source="MONDO:equivalentTo", source="OMIM:232220"} xref: SCTID:237965005 {source="MONDO:equivalentTo"} xref: SCTID:30102006 {source="MONDO:equivalentTo"} xref: UMLS:C0342749 {source="OMIM:232240", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia is_a: MONDO:0023258 ! glycogen storage disease type 1 due to SLC37A4 mutation property_value: exactMatch DOID:0081330 property_value: exactMatch DOID:0081331 property_value: exactMatch http://identifiers.org/mesh/C562594 property_value: exactMatch http://identifiers.org/snomedct/237965005 property_value: exactMatch http://identifiers.org/snomedct/30102006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342749 property_value: exactMatch https://omim.org/entry/232220 property_value: exactMatch https://omim.org/entry/232240 property_value: exactMatch NCIT:C122661 property_value: exactMatch Orphanet:79259 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/430 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0009290 name: glycogen storage disease II def: "Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal." [Orphanet:365] subset: clingen subset: gard_rare subset: ordo_disease {source="Orphanet:365"} synonym: "acid maltase deficiency" EXACT [DOID:2752, OMIM:232300] synonym: "acid maltase deficiency disease" RELATED [GARD:0005714] synonym: "Aglucosidase alfa" RELATED [GARD:0005714] synonym: "Alpha-1,4-glucosidase acid deficiency" EXACT [Orphanet:365] synonym: "Alpha-1,4-glucosidase deficiency" RELATED [OMIM:232300] synonym: "Cardiomegalia Glycogenica diffusa" RELATED [OMIM:232300] synonym: "deficiency of alpha-glucosidase" RELATED [GARD:0005714] synonym: "deficiency of glucoamylase" EXACT [DOID:2752] synonym: "deficiency of lysosomal alpha-glucosidase" RELATED [GARD:0005714] synonym: "deficiency of maltase" EXACT [DOID:2752] synonym: "GAA deficiency" RELATED [OMIM:232300] synonym: "GAA glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "generalised glycogenosis" EXACT OMO:0003005 [] synonym: "generalized glycogenosis" EXACT [DOID:2752] synonym: "glucosidase acid-1,4-alpha deficiency" RELATED [GARD:0002503] synonym: "glycogen storage disease 2" RELATED [OMIM:232300] synonym: "glycogen storage disease caused by mutation in GAA" EXACT [MONDO:design_pattern] synonym: "glycogen storage disease due to acid maltase deficiency" RELATED [Orphanet:365] synonym: "glycogen storage disease II" EXACT [MONDO:Lexical, OMIM:232300] synonym: "glycogen storage disease type 2" EXACT [MONDORULE:1, OMIM:232300, Orphanet:365] synonym: "glycogen storage disease type II" EXACT [DOID:2752, MONDORULE:3, Orphanet:365] synonym: "glycogen storage disease, type II" EXACT [DOID:2752] synonym: "glycogenosis due to acid maltase deficiency" EXACT [Orphanet:365] synonym: "glycogenosis type 2" EXACT [Orphanet:365] synonym: "glycogenosis type II" EXACT [Orphanet:365] synonym: "glycogenosis, generalized, Cardiac form" RELATED [OMIM:232300] synonym: "glycogenosis, type 2" EXACT [DOID:2752] synonym: "GSD 2" RELATED [OMIM:232300] synonym: "GSD due to acid maltase deficiency" EXACT [Orphanet:365] synonym: "GSD II" RELATED [GARD:0005714] synonym: "GSD type 2" EXACT [Orphanet:365] synonym: "GSD type II" EXACT [Orphanet:365] synonym: "GSD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:232300] synonym: "lysosomal alpha-1,4-glucosidase deficiency" EXACT [DOID:2752] synonym: "Pompe disease" EXACT [OMIM:232300, Orphanet:365] synonym: "Pompe's disease" EXACT [DOID:2752] xref: DOID:2752 {source="MONDO:equivalentTo"} xref: MedDRA:10053185 {source="Orphanet:365/e", source="Orphanet:365"} xref: NCIT:C84734 {source="DOID:2752", source="MONDO:equivalentTo"} xref: OMIM:232300 {source="DOID:2752", source="Orphanet:365/e", source="MONDO:equivalentTo", source="Orphanet:365"} xref: Orphanet:365 {source="MONDO:equivalentTo", source="OMIM:232300"} xref: SCTID:274864009 {source="MONDO:equivalentTo"} xref: UMLS:C0017921 {source="NCIT:C84734", source="DOID:2752", source="Orphanet:365/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:232300", source="Orphanet:365"} xref: UMLS:C1968741 {source="MONDO:equivalentTo"} is_a: MONDO:0002412 {source="DC-OMIM:232300", source="DOID:2752", source="DOID:2752/inferred", source="MONDO:Redundant", source="NCIT:C84734", source="Orphanet:365"} ! disorder of glycogen metabolism is_a: MONDO:0016340 ! familial restrictive cardiomyopathy is_a: MONDO:0017738 {source="Orphanet:365"} ! lysosomal glycogen storage disease property_value: closeMatch http://identifiers.org/meddra/10053185 property_value: exactMatch DOID:2752 property_value: exactMatch http://identifiers.org/snomedct/274864009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017921 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1968741 property_value: exactMatch https://omim.org/entry/232300 property_value: exactMatch NCIT:C84734 property_value: exactMatch Orphanet:365 [Term] id: MONDO:0009291 name: glycogen storage disease III def: "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy." [Orphanet:366] subset: ordo_disease {source="Orphanet:366"} synonym: "Agl deficiency" RELATED [OMIM:232400] synonym: "AGL glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "amylo 1,6 glucosidase deficiency" EXACT [DOID:2748] synonym: "amylo-1,6-glucosidase deficiency" EXACT [Orphanet:366] synonym: "Cori disease" EXACT [Orphanet:366] synonym: "Cori-Forbes disease" EXACT [Orphanet:366] synonym: "deficiency of debranching enzyme" EXACT [DOID:2748] synonym: "deficiency of dextrin" EXACT [DOID:2748] synonym: "Forbes disease" EXACT [OMIM:232400, Orphanet:366] synonym: "GDE deficiency" EXACT [Orphanet:366] synonym: "Gde deficiency" RELATED [OMIM:232400] synonym: "glycogen Debrancher deficiency" RELATED [OMIM:232400] synonym: "glycogen storage disease 3" RELATED [OMIM:232400] synonym: "glycogen storage disease caused by mutation in AGL" EXACT [MONDO:design_pattern] synonym: "glycogen storage disease due to glycogen debranching enzyme deficiency" RELATED [Orphanet:366] synonym: "glycogen storage disease III" EXACT [MONDO:Lexical, OMIM:232400] synonym: "glycogen storage disease IIIa" RELATED [OMIM:232400] synonym: "glycogen storage disease IIIb" RELATED [OMIM:232400] synonym: "glycogen storage disease IIIC" RELATED [OMIM:232400] synonym: "glycogen storage disease IIID" RELATED [OMIM:232400] synonym: "glycogen storage disease type 3" EXACT [MONDORULE:1, OMIM:232400, Orphanet:366] synonym: "glycogen storage disease type III" EXACT [DOID:2748, MONDORULE:3, Orphanet:366] synonym: "glycogen storage disease, type III" EXACT [DOID:2748] synonym: "glycogenosis due to glycogen debranching enzyme deficiency" EXACT [Orphanet:366] synonym: "glycogenosis type 3" EXACT [Orphanet:366] synonym: "glycogenosis type III" EXACT [Orphanet:366] synonym: "GSD due to glycogen debranching enzyme deficiency" EXACT [Orphanet:366] synonym: "GSD type 3" EXACT [Orphanet:366] synonym: "GSD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:232400] synonym: "GSDIII" EXACT ABBREVIATION [Orphanet:366] synonym: "limit dextrinosis" EXACT [OMIM:232400, Orphanet:366] xref: DOID:2748 {source="MONDO:equivalentTo"} xref: MedDRA:10053250 {source="Orphanet:366/e", source="Orphanet:366"} xref: MESH:D006010 {source="MONDO:equivalentTo", source="DOID:2748"} xref: NCIT:C84736 {source="MONDO:equivalentTo", source="DOID:2748"} xref: OMIM:232400 {source="Orphanet:366/e", source="MONDO:equivalentTo", source="DOID:2748", source="Orphanet:366"} xref: Orphanet:366 {source="MONDO:equivalentTo", source="OMIM:232400"} xref: SCTID:66937008 {source="MONDO:equivalentTo", source="DOID:2748"} xref: UMLS:C0017922 {source="Orphanet:366/e", source="NCIT:C84736", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:232400", source="DOID:2748", source="Orphanet:366"} xref: UMLS:C1968741 {source="OMIM:232400", source="MONDO:directSiblingOf"} xref: UMLS:CN204781 {source="MONDO:equivalentTo"} is_a: MONDO:0002412 {source="DOID:2748", source="DOID:2748/inferred", source="MONDO:Redundant", source="NCIT:C84736", source="Orphanet:366", source="PMID:33340416"} ! disorder of glycogen metabolism property_value: closeMatch http://identifiers.org/meddra/10053250 property_value: exactMatch DOID:2748 property_value: exactMatch http://identifiers.org/mesh/D006010 property_value: exactMatch http://identifiers.org/snomedct/66937008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017922 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204781 property_value: exactMatch https://omim.org/entry/232400 property_value: exactMatch NCIT:C84736 property_value: exactMatch Orphanet:366 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0009292 name: glycogen storage disease due to glycogen branching enzyme deficiency def: "Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases." [Orphanet:367] subset: ordo_disease {source="Orphanet:367"} synonym: "amylopectinosis" EXACT [DOID:2750, OMIM:232500, Orphanet:367] synonym: "Andersen disease" EXACT [OMIM:232500, Orphanet:367] synonym: "Andersen's disease" EXACT [] synonym: "brancher deficiency" RELATED [OMIM:232500] synonym: "brancher deficiency glycogenosis" EXACT [DOID:2750] synonym: "branching-transferase deficiency glycogenosis" EXACT [DOID:2750] synonym: "cirrhosis, familial, with deposition of abnormal glycogen" RELATED [OMIM:232500] synonym: "deficiency of 1,4-alpha-glucan branching enzyme" EXACT [DOID:2750] synonym: "Gbe1 deficiency" RELATED [OMIM:232500] synonym: "GBE1 glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "glycogen branching enzyme deficiency" RELATED [OMIM:232500] synonym: "glycogen storage disease 4" RELATED [OMIM:232500] synonym: "glycogen storage disease caused by mutation in GBE1" EXACT [MONDO:design_pattern] synonym: "glycogen storage disease due to glycogen branching enzyme deficiency" EXACT [] synonym: "glycogen storage disease IV" RELATED [MONDO:Lexical, OMIM:232500] synonym: "glycogen storage disease type 4" EXACT [MONDORULE:1, OMIM:232500, Orphanet:367] synonym: "glycogen storage disease type IV" EXACT [DOID:2750, MONDORULE:3, Orphanet:367] synonym: "glycogen storage disease, type IV" EXACT [DOID:2750] synonym: "glycogenosis 4" RELATED [OMIM:232500] synonym: "glycogenosis due to glycogen branching enzyme deficiency" EXACT [Orphanet:367] synonym: "glycogenosis type 4" EXACT [Orphanet:367] synonym: "glycogenosis type IV" EXACT [Orphanet:367] synonym: "GSD 4" RELATED [OMIM:232500] synonym: "GSD due to glycogen branching enzyme deficiency" EXACT [Orphanet:367] synonym: "GSD IV" RELATED [GARD:0002520] synonym: "GSD IV, classic hepatic" RELATED [OMIM:232500] synonym: "GSD IV, neuromuscular form, adult, with isolated myopathy" RELATED [OMIM:232500] synonym: "GSD IV, neuromuscular form, childhood" RELATED [OMIM:232500] synonym: "GSD IV, neuromuscular form, congenital" RELATED [OMIM:232500] synonym: "GSD IV, neuromuscular form, fatal perinatal" RELATED [OMIM:232500] synonym: "GSD IV, nonprogressive hepatic" RELATED [OMIM:232500] synonym: "GSD type 4" EXACT [Orphanet:367] synonym: "GSD type IV" EXACT [Orphanet:367] synonym: "GSD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:232500] xref: DOID:2750 {source="MONDO:equivalentTo"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10053249 {source="Orphanet:367", source="Orphanet:367/e"} xref: NCIT:C84737 {source="DOID:2750", source="MONDO:equivalentTo"} xref: OMIM:232500 {source="Orphanet:367", source="DOID:2750", source="Orphanet:367/btnt", source="MONDO:equivalentTo"} xref: Orphanet:367 {source="MONDO:equivalentTo", source="OMIM:232500"} xref: SCTID:124267007 {source="DOID:2750", source="MONDO:equivalentTo"} xref: UMLS:C0017923 {source="Orphanet:367", source="DOID:2750", source="NCIT:C84737", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:367/e", source="OMIM:232500"} xref: UMLS:C1563715 {source="Orphanet:367", source="MONDO:relatedTo", source="Orphanet:367/e"} xref: UMLS:CN204783 {source="MONDO:equivalentTo"} is_a: MONDO:0002412 {source="DC-OMIM:232500", source="DOID:2750", source="DOID:2750/inferred", source="MONDO:Redundant", source="NCIT:C84737", source="Orphanet:367"} ! disorder of glycogen metabolism relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare property_value: closeMatch http://identifiers.org/meddra/10053249 property_value: exactMatch DOID:2750 property_value: exactMatch http://identifiers.org/snomedct/124267007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017923 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204783 property_value: exactMatch https://omim.org/entry/232500 property_value: exactMatch NCIT:C84737 property_value: exactMatch Orphanet:367 property_value: excluded_subClassOf MONDO:0016118 {source="Orphanet:367"} property_value: excluded_subClassOf MONDO:0016333 {source="Orphanet:367"} [Term] id: MONDO:0009293 name: glycogen storage disease V def: "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." [Orphanet:368] subset: ordo_disease {source="Orphanet:368"} synonym: "glycogen storage disease 5" RELATED [OMIM:232600] synonym: "glycogen storage disease caused by mutation in PYGM" EXACT [MONDO:design_pattern] synonym: "glycogen storage disease due to muscle glycogen phosphorylase deficiency" RELATED [Orphanet:368] synonym: "glycogen storage disease type 5" EXACT [MONDORULE:1, OMIM:232600, Orphanet:368] synonym: "glycogen storage disease type V" EXACT [DOID:2746, MONDORULE:1, Orphanet:368] synonym: "glycogen storage disease V" EXACT [MONDO:Lexical, OMIM:232600] synonym: "glycogen storage disease, type V" EXACT [DOID:2746] synonym: "glycogenosis due to muscle glycogen phosphorylase deficiency" EXACT [Orphanet:368] synonym: "glycogenosis type 5" EXACT [Orphanet:368] synonym: "glycogenosis type V" EXACT [Orphanet:368] synonym: "GSD 5" RELATED [OMIM:232600] synonym: "GSD due to muscle glycogen phosphorylase deficiency" EXACT [Orphanet:368] synonym: "GSD type 5" EXACT [Orphanet:368] synonym: "GSD type V" EXACT [Orphanet:368] synonym: "GSD5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:232600] synonym: "McArdle disease" EXACT [Orphanet:368] synonym: "Mcardle disease" EXACT [OMIM:232600] synonym: "McArdle type glycogen storage disease" RELATED [GARD:0006528] synonym: "McArdle's disease" EXACT [DOID:2746] synonym: "muscle glycogen phosphorylase deficiency" RELATED [OMIM:232600] synonym: "myophosphorylase deficiency" EXACT [DOID:2746, OMIM:232600, Orphanet:368] synonym: "Pygm deficiency" RELATED [OMIM:232600] synonym: "PYGM glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:2746 {source="MONDO:equivalentTo"} xref: MedDRA:10018462 {source="Orphanet:368", source="Orphanet:368/e"} xref: MESH:D006012 {source="Orphanet:368", source="MONDO:equivalentTo", source="Orphanet:368/e", source="DOID:2746"} xref: NCIT:C84738 {source="MONDO:equivalentTo", source="DOID:2746"} xref: OMIM:232600 {source="Orphanet:368", source="MONDO:equivalentTo", source="Orphanet:368/e", source="DOID:2746"} xref: Orphanet:368 {source="MONDO:equivalentTo", source="OMIM:232600"} xref: SCTID:55912009 {source="MONDO:equivalentTo", source="DOID:2746"} xref: UMLS:C0017924 {source="Orphanet:368", source="MONDO:equivalentTo", source="Orphanet:368/e", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C84738", source="DOID:2746", source="OMIM:232600"} is_a: MONDO:0002412 {source="DC-OMIM:232600", source="DOID:2746", source="DOID:2746/inferred", source="MESH:D006012", source="MONDO:Redundant", source="NCIT:C84738", source="Orphanet:368", source="PMID:33340416"} ! disorder of glycogen metabolism property_value: closeMatch http://identifiers.org/meddra/10018462 property_value: exactMatch DOID:2746 property_value: exactMatch http://identifiers.org/mesh/D006012 property_value: exactMatch http://identifiers.org/snomedct/55912009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017924 property_value: exactMatch https://omim.org/entry/232600 property_value: exactMatch NCIT:C84738 property_value: exactMatch Orphanet:368 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0009294 name: glycogen storage disease VI def: "Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease." [Orphanet:369] subset: ordo_disease {source="Orphanet:369"} synonym: "glycogen storage disease 6" RELATED [GARD:0006529, OMIM:232700] synonym: "glycogen storage disease caused by mutation in PYGL" EXACT [MONDO:design_pattern] synonym: "glycogen storage disease due to liver glycogen phosphorylase deficiency" RELATED [Orphanet:369] synonym: "glycogen storage disease type 6" EXACT [MONDORULE:1, OMIM:232700, Orphanet:369] synonym: "glycogen storage disease type VI" EXACT [DOID:2754, MONDORULE:3, Orphanet:369] synonym: "glycogen storage disease VI" EXACT [MONDO:Lexical, OMIM:232700] synonym: "glycogenosis due to liver glycogen phosphorylase deficiency" EXACT [Orphanet:369] synonym: "glycogenosis type 6" EXACT [Orphanet:369] synonym: "glycogenosis type VI" EXACT [Orphanet:369] synonym: "GSD 6" RELATED [OMIM:232700] synonym: "GSD due to liver glycogen phosphorylase deficiency" EXACT [Orphanet:369] synonym: "GSD type 6" EXACT [Orphanet:369] synonym: "GSD type VI" EXACT [Orphanet:369] synonym: "GSD6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:232700] synonym: "hepatic glycogen phosphorylase deficiency" EXACT [Orphanet:369] synonym: "hepatic phosphorylase deficiency" EXACT [Orphanet:369] synonym: "hepatophosphorylase deficiency glycogenosis" EXACT [DOID:2754] synonym: "hers disease" EXACT [OMIM:232700, Orphanet:369] synonym: "hers' disease" EXACT [DOID:2754] synonym: "liver glycogen phosphorylase deficiency" EXACT [Orphanet:369] synonym: "phosphorylase deficiency glycogen-storage disease of liver" RELATED [OMIM:232700] synonym: "PYGL glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:2754 {source="MONDO:equivalentTo"} xref: MedDRA:10053240 {source="Orphanet:369", source="Orphanet:369/e"} xref: MESH:D006013 {source="DOID:2754", source="MONDO:equivalentTo"} xref: NCIT:C126875 {source="MONDO:equivalentTo"} xref: OMIM:232700 {source="Orphanet:369", source="DOID:2754", source="MONDO:equivalentTo", source="Orphanet:369/e"} xref: Orphanet:369 {source="DOID:2754", source="MONDO:equivalentTo", source="OMIM:232700"} xref: SCTID:29291001 {source="DOID:2754", source="MONDO:equivalentTo"} xref: UMLS:C0017925 {source="Orphanet:369", source="DOID:2754", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C126875", source="Orphanet:369/e"} is_a: MONDO:0002412 {source="DC-OMIM:232700", source="DOID:2754", source="DOID:2754/inferred", source="MESH:D006013", source="MONDO:Redundant", source="NCIT:C126875", source="Orphanet:369", source="PMID:33340416"} ! disorder of glycogen metabolism relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare property_value: closeMatch http://identifiers.org/meddra/10053240 property_value: exactMatch DOID:2754 property_value: exactMatch http://identifiers.org/mesh/D006013 property_value: exactMatch http://identifiers.org/snomedct/29291001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017925 property_value: exactMatch https://omim.org/entry/232700 property_value: exactMatch NCIT:C126875 property_value: exactMatch Orphanet:369 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0009295 name: glycogen storage disease VII def: "Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood." [Orphanet:371] subset: ordo_disease {source="Orphanet:371"} synonym: "glycogen storage disease 7" RELATED [OMIM:232800] synonym: "glycogen storage disease caused by mutation in PFKM" EXACT [MONDO:design_pattern] synonym: "glycogen storage disease due to muscle phosphofructokinase deficiency" RELATED [Orphanet:371] synonym: "glycogen storage disease type 7" EXACT [MONDORULE:1, OMIM:232800, Orphanet:371] synonym: "glycogen storage disease type VII" EXACT [DOID:11721, MONDORULE:3, Orphanet:371] synonym: "glycogen storage disease VII" EXACT [MONDO:Lexical, OMIM:232800] synonym: "glycogen storage disease, type VII" EXACT [DOID:11721] synonym: "glycogenosis due to muscle phosphofructokinase deficiency" EXACT [Orphanet:371] synonym: "glycogenosis type 7" EXACT [Orphanet:371] synonym: "glycogenosis type VII" EXACT [Orphanet:371] synonym: "GSD 7" RELATED [OMIM:232800] synonym: "GSD due to muscle phosphofructokinase deficiency" EXACT [Orphanet:371] synonym: "GSD type 7" EXACT [Orphanet:371] synonym: "GSD type VII" EXACT [Orphanet:371] synonym: "GSD7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:232800] synonym: "GSDVII" EXACT ABBREVIATION [NCIT:C118437] synonym: "muscle phosphofructokinase deficiency" RELATED [OMIM:232800] synonym: "Pfkm deficiency" RELATED [OMIM:232800] synonym: "PFKM glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "phosphofructokinase deficiency" EXACT [NCIT:C118437] synonym: "phosphofructokinase myopathy" EXACT [DOID:11721] synonym: "Tarui disease" EXACT [OMIM:232800, Orphanet:371] xref: DOID:11721 {source="MONDO:equivalentTo"} xref: MedDRA:10053241 {source="Orphanet:371", source="Orphanet:371/e"} xref: MESH:D006014 {source="DOID:11721", source="MONDO:equivalentTo"} xref: NCIT:C118437 {source="DOID:11721", source="MONDO:equivalentTo"} xref: OMIM:232800 {source="DOID:11721", source="MONDO:equivalentTo", source="Orphanet:371", source="Orphanet:371/e"} xref: Orphanet:371 {source="MONDO:equivalentTo", source="OMIM:232800"} xref: SCTID:89597008 {source="DOID:11721", source="MONDO:equivalentTo"} xref: UMLS:C0017926 {source="DOID:11721", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:371", source="NCIT:C118437", source="Orphanet:371/e", source="OMIM:232800"} is_a: MONDO:0002412 {source="DC-OMIM:232800", source="DOID:11721", source="DOID:11721/inferred", source="MESH:D006014", source="MONDO:Redundant", source="NCIT:C118437", source="Orphanet:371"} ! disorder of glycogen metabolism is_a: MONDO:0003689 ! familial hemolytic anemia is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis is_a: MONDO:0020585 ! anemia due to erythrocyte enzyme disorder property_value: closeMatch http://identifiers.org/meddra/10053241 property_value: exactMatch DOID:11721 property_value: exactMatch http://identifiers.org/mesh/D006014 property_value: exactMatch http://identifiers.org/snomedct/89597008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017926 property_value: exactMatch https://omim.org/entry/232800 property_value: exactMatch NCIT:C118437 property_value: exactMatch Orphanet:371 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0009297 name: familial renal glucosuria def: "Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2)." [Orphanet:69076] subset: gard_rare {source="GARD:0007548"} subset: ordo_disease {source="Orphanet:69076"} synonym: "familial renal glucosuria" EXACT [Orphanet:69076] synonym: "glycosuria, renal" RELATED [OMIM:233100] synonym: "GLYS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:233100] synonym: "Glys1" RELATED [OMIM:233100] synonym: "renal diabetes" EXACT [DOID:9432] synonym: "renal glucosuria" RELATED [GARD:0007548, MONDO:Lexical, OMIM:233100] synonym: "renal glycosuria" RELATED [DOID:9432, GARD:0007548] synonym: "SGLT2 deficiency" EXACT [Orphanet:69076] xref: DOID:9432 {source="EFO:1001151", source="MONDO:equivalentTo"} xref: EFO:1001151 {source="MONDO:equivalentTo"} xref: ICD9:271.4 {source="EFO:1001151", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9432"} xref: MedDRA:10038457 {source="EFO:1001151"} xref: MESH:D006030 {source="EFO:1001151", source="MONDO:equivalentTo", source="DOID:9432"} xref: OMIM:233100 {source="MONDO:equivalentTo", source="Orphanet:69076", source="DOID:9432", source="Orphanet:69076/e"} xref: Orphanet:69076 {source="MONDO:equivalentTo", source="OMIM:233100"} xref: SCTID:267430007 {source="EFO:1001151", source="MONDO:equivalentTo", source="DOID:9432"} xref: UMLS:C0017980 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:233100", source="Orphanet:69076", source="DOID:9432"} xref: UMLS:C3245525 {source="MONDO:equivalentTo", source="Orphanet:69076"} is_a: EFO:1000647 {source="DOID:9432", source="MESH:D006030"} ! renal tubular transport disease is_a: MONDO:0019226 {source="Orphanet:69076"} ! glucose transport disorder is_a: MONDO:0100191 ! inherited kidney disorder property_value: closeMatch http://identifiers.org/meddra/10038457 property_value: exactMatch DOID:9432 property_value: exactMatch http://identifiers.org/mesh/D006030 property_value: exactMatch http://identifiers.org/snomedct/267430007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017980 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3245525 property_value: exactMatch https://omim.org/entry/233100 property_value: exactMatch Orphanet:69076 property_value: excluded_subClassOf MONDO:0019743 {source="Orphanet:69076"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7548/renal-glycosuria xsd:anyURI {source="GARD:0007548"} [Term] id: MONDO:0009299 name: 46 XX gonadal dysgenesis def: "46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." [Orphanet:243] subset: ordo_malformation_syndrome {source="Orphanet:243"} synonym: "46,XX complete gonadal dysgenesis" EXACT [Orphanet:243] synonym: "46,XX gonadal dysgenesis" EXACT [NCIT:C120197] synonym: "46,XX ovarian dysgenesis" EXACT [Orphanet:243] synonym: "46,XX pure gonadal dysgenesis" EXACT [Orphanet:243] synonym: "follicular stimulating hormone-resistant ovaries" EXACT [Orphanet:243] synonym: "FSH-RO" EXACT [Orphanet:243] synonym: "hypergonadotropic ovarian dysgenesis" EXACT [Orphanet:243] synonym: "ovarian dysgenesis" RELATED [OMIMPS:233300] synonym: "XX female gonadal dysgenesis" EXACT [Orphanet:243] synonym: "XX gonadal dysgenesis" RELATED [OMIM:233300] synonym: "XX-GD" EXACT [Orphanet:243] xref: DOID:14450 {source="MONDO:equivalentTo"} xref: MESH:D023961 {source="Orphanet:243/e", source="DOID:14450", source="MONDO:equivalentTo", source="Orphanet:243"} xref: NCIT:C120197 {source="DOID:14450", source="MONDO:equivalentTo"} xref: OMIMPS:233300 {source="MONDO:equivalentTo"} xref: Orphanet:243 {source="DOID:14450", source="MONDO:equivalentTo", source="OMIM:233300"} xref: SCTID:95198001 {source="MONDO:equivalentTo"} xref: UMLS:C0949595 {source="Orphanet:243/e", source="DOID:14450", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C120197", source="OMIM:233300", source="Orphanet:243"} is_a: MONDO:0001967 {source="DOID:14450", source="MESH:D023961", source="NCIT:C120197"} ! gonadal dysgenesis is_a: MONDO:0017961 {source="Orphanet:243"} ! 46,XX disorder of gonadal development is_a: MONDO:0019852 {source="Orphanet:243"} ! inherited primary ovarian failure is_a: MONDO:0957024 ! hereditary 46,XX disorder of sex development property_value: exactMatch DOID:14450 property_value: exactMatch http://identifiers.org/mesh/D023961 property_value: exactMatch http://identifiers.org/snomedct/95198001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0949595 property_value: exactMatch https://omim.org/phenotypicSeries/PS233300 property_value: exactMatch NCIT:C120197 property_value: exactMatch Orphanet:243 [Term] id: MONDO:0009302 name: XY type gonadal dysgenesis-associated anomalies syndrome def: "Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive." [Orphanet:1770] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1770"} synonym: "gonadal dysgenesis XY type associated anomalies" RELATED [GARD:0002541] synonym: "gonadal dysgenesis, 10Y type, with associated anomalies" RELATED [OMIM:233430] synonym: "gonadal dysgenesis, XY type, with associated anomalies" RELATED [OMIM:233430] xref: MESH:C565536 {source="MONDO:equivalentTo"} xref: OMIM:233430 {source="Orphanet:1770", source="MONDO:equivalentObsolete", source="Orphanet:1770/e"} xref: Orphanet:1770 {source="MONDO:equivalentTo", source="OMIM:233430"} xref: UMLS:C1856272 {source="GARD:0002541", source="Orphanet:1770", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:233430"} is_a: MONDO:0020040 {source="Orphanet:1770"} ! 46,XY disorder of sex development property_value: exactMatch http://identifiers.org/mesh/C565536 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856272 property_value: exactMatch Orphanet:1770 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2541/gonadal-dysgenesis-xy-type-associated-anomalies xsd:anyURI {source="GARD:0002541"} [Term] id: MONDO:0009305 name: granulocytopenia with immunoglobulin abnormality synonym: "granulocytopenia with immunoglobulin abnormality" EXACT [OMIM:233600] synonym: "immunodeficiency 59 and hypoglycemia" EXACT [OMIM:233600, OMIM:genemap2] xref: DOID:0111974 {source="MONDO:equivalentTo"} xref: MESH:C565535 {source="MONDO:equivalentTo"} xref: OMIM:233600 {source="MONDO:equivalentTo"} xref: UMLS:C1856263 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:233600"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch DOID:0111974 property_value: exactMatch http://identifiers.org/mesh/C565535 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856263 property_value: exactMatch https://omim.org/entry/233600 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009306 name: combined immunodeficiency with skin granulomas subset: ordo_disease {source="Orphanet:157949"} synonym: "CCHIDG" RELATED ABBREVIATION [MONDO:Lexical, OMIM:233650] synonym: "CID due to RAG 1/2 deficiency" EXACT [Orphanet:157949] synonym: "combined cellular and humoral immune defects with granulomas" RELATED [MONDO:Lexical, OMIM:233650] synonym: "combined immunodeficiency due to RAG 1/2 deficiency" EXACT [Orphanet:157949] xref: DOID:0112253 {source="MONDO:equivalentTo"} xref: MESH:C567115 {source="MONDO:equivalentTo"} xref: OMIM:233650 {source="Orphanet:157949/e", source="MONDO:equivalentTo", source="Orphanet:157949"} xref: Orphanet:157949 {source="MONDO:equivalentTo", source="OMIM:233650"} xref: UMLS:C2673536 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:233650", source="Orphanet:157949"} is_a: MONDO:0017855 {source="PMID:31953710"} ! T-B- severe combined immunodeficiency is_a: MONDO:0100118 ! hereditary skin disorder property_value: exactMatch DOID:0112253 property_value: exactMatch http://identifiers.org/mesh/C567115 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673536 property_value: exactMatch https://omim.org/entry/233650 property_value: exactMatch Orphanet:157949 property_value: excluded_subClassOf MONDO:0018814 {source="Orphanet:157949"} [Term] id: MONDO:0009312 name: lipodystrophy due to peptidic growth factors deficiency def: "Deficiency of the peptidic growth factors is characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk)." [Orphanet:1979] subset: ordo_disease {source="Orphanet:1979"} synonym: "combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency" EXACT [Orphanet:1979] synonym: "growth factors, combined defect OF" RELATED [OMIM:233805] synonym: "Hoepffner Dreyer Reimers syndrome" RELATED [GARD:0004280] synonym: "Hoepffner-Dreyer-Reimers syndrome" EXACT [Orphanet:1979] synonym: "insulin, insulin-like Growth Factor I, and Epidermal Growth Factor deficiency" RELATED [OMIM:233805] synonym: "peptide growth factors deficiency" RELATED [GARD:0004280] synonym: "peptidic growth factors deficiency" RELATED [GARD:0004280] synonym: "Werner-like syndrome due to combined Growth Factor deficiency" RELATED [OMIM:233805] synonym: "Werner-like syndrome due to combined growth factor deficiency" EXACT [Orphanet:1979] xref: MESH:C565529 {source="MONDO:equivalentTo"} xref: OMIM:233805 {source="Orphanet:1979/e", source="MONDO:equivalentTo", source="Orphanet:1979"} xref: Orphanet:1979 {source="OMIM:233805", source="MONDO:equivalentTo"} xref: SCTID:724176001 {source="MONDO:equivalentTo"} xref: UMLS:C2931279 {source="MONDO:equivalentTo", source="Orphanet:1979"} is_a: MONDO:0020087 {source="Orphanet:1979"} ! hereditary lipodystrophy property_value: exactMatch http://identifiers.org/mesh/C565529 property_value: exactMatch http://identifiers.org/snomedct/724176001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931279 property_value: exactMatch https://omim.org/entry/233805 property_value: exactMatch Orphanet:1979 [Term] id: MONDO:0009313 name: Grubben-de Cock-Borghgraef syndrome def: "Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients." [Orphanet:2101] subset: gard_rare {source="GARD:0002576"} subset: ordo_malformation_syndrome {source="Orphanet:2101"} synonym: "developmental delay - hypotonia - extremities hypertrophy" RELATED [GARD:0002576] synonym: "developmental delay-hypotonia-extremities hypertrophy syndrome" EXACT [Orphanet:2101] synonym: "growth retardation, small and puffy hands and feet, and eczema" RELATED [OMIM:233810] synonym: "Grubben de Cock Borghgraef syndrome" RELATED [GARD:0002576] synonym: "severe growth retardation, developmental delay with hypotonia, hypotrophy of the distal extremities, dental anomalies, and eczematous skin" RELATED [GARD:0002576] xref: MESH:C537621 {source="Orphanet:2101", source="MONDO:equivalentTo", source="Orphanet:2101/e"} xref: OMIM:233810 {source="Orphanet:2101", source="MONDO:equivalentTo", source="Orphanet:2101/e"} xref: Orphanet:2101 {source="MONDO:equivalentTo", source="OMIM:233810"} xref: UMLS:C2931551 {source="Orphanet:2101", source="MONDO:equivalentTo", source="Orphanet:2101/e"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: exactMatch http://identifiers.org/mesh/C537621 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931551 property_value: exactMatch https://omim.org/entry/233810 property_value: exactMatch Orphanet:2101 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:2101"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2576/grubben-de-cock-borghgraef-syndrome xsd:anyURI {source="GARD:0002576"} [Term] id: MONDO:0009315 name: congenital factor XII deficiency def: "Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions." [Orphanet:330] subset: gard_rare {source="GARD:0006558"} subset: ordo_disease {source="Orphanet:330"} synonym: "coagulation factor 12 deficiency" RELATED [GARD:0006558] synonym: "congenital factor XII deficiency" EXACT [] synonym: "congenital Hageman factor deficiency" EXACT [Orphanet:330] synonym: "deficiency, Hageman" EXACT [DOID:2231] synonym: "F12 deficiency" RELATED [OMIM:234000] synonym: "factor 12 deficiency" RELATED [GARD:0006558] synonym: "factor XII deficiency" RELATED [OMIM:234000] synonym: "factor XII deficiency disease" EXACT [DOID:2231] synonym: "Haf deficiency" RELATED [OMIM:234000] synonym: "Hageman Factor deficiency" EXACT [DOID:2231, NCIT:C26770, OMIM:234000] xref: DOID:2231 {source="MONDO:equivalentTo"} xref: ICD9:286.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D005175 {source="DOID:2231", source="MONDO:equivalentTo"} xref: NCIT:C131740 {source="MONDO:equivalentTo"} xref: OMIM:234000 {source="DOID:2231", source="Orphanet:330/e", source="MONDO:equivalentTo", source="Orphanet:330"} xref: Orphanet:330 {source="OMIM:234000", source="MONDO:equivalentTo"} xref: SCTID:46981006 {source="DOID:2231", source="MONDO:equivalentTo"} xref: UMLS:C0015526 {source="DOID:2231", source="OMIM:234000", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C131740", source="Orphanet:330"} is_a: MONDO:0000429 {source="DOID:2231"} ! autosomal genetic disease is_a: MONDO:0002242 {source="MESH:D005175"} ! coagulation protein disease is_a: MONDO:0002243 {source="MESH:D005175"} ! hemorrhagic disease is_a: MONDO:0009332 ! congenital hematological disorder is_a: MONDO:0021181 {source="MESH:D005175", source="MONDO:0016633-obsoleted", source="MONDO:Redundant"} ! inherited blood coagulation disorder property_value: exactMatch DOID:2231 property_value: exactMatch http://identifiers.org/mesh/D005175 property_value: exactMatch http://identifiers.org/snomedct/46981006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015526 property_value: exactMatch https://omim.org/entry/234000 property_value: exactMatch NCIT:C131740 property_value: exactMatch Orphanet:330 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6558/factor-xii-deficiency xsd:anyURI {source="GARD:0006558"} [Term] id: MONDO:0009316 name: obsolete hair defect-photosensitivity-intellectual disability syndrome property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4390 xsd:anyURI is_obsolete: true replaced_by: MONDO:0022316 [Term] id: MONDO:0009318 name: Hallermann-Streiff syndrome def: "Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases." [Orphanet:2108] subset: gard_rare {source="GARD:0000288"} subset: ordo_malformation_syndrome {source="Orphanet:2108"} synonym: "FranC'ois dyscephalic syndrome" EXACT [Orphanet:2108] synonym: "Francois dyscephalic syndrome" EXACT [DOID:4534, OMIM:234100] synonym: "François dyscephalic syndrome" EXACT [Orphanet:2108] synonym: "Hallerman - Streiff syndrome" EXACT [DOID:4534] synonym: "Hallermann Streiff Francois syndrome" RELATED [GARD:0000288] synonym: "Hallermann Streiff syndrome" RELATED [GARD:0000288] synonym: "Hallermann syndrome" EXACT [NCIT:C84746] synonym: "Hallermann's syndrome" EXACT [DOID:4534] synonym: "Hallermann-Streiff syndrome" EXACT [MONDO:Lexical, OMIM:234100] synonym: "HSS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:234100] synonym: "oculomandibulofacial syndrome" EXACT [Orphanet:2108] xref: DOID:4534 {source="MONDO:equivalentTo"} xref: MESH:D006210 {source="DOID:4534", source="MONDO:equivalentTo"} xref: NCIT:C84746 {source="DOID:4534", source="MONDO:equivalentTo"} xref: OMIM:234100 {source="DOID:4534", source="MONDO:equivalentTo", source="Orphanet:2108", source="Orphanet:2108/e"} xref: Orphanet:2108 {source="DOID:4534", source="OMIM:234100", source="MONDO:equivalentTo"} xref: SCTID:7903009 {source="DOID:4534", source="MONDO:equivalentTo"} xref: UMLS:C0018522 {source="NCIT:C84746", source="DOID:4534", source="OMIM:234100", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2108", source="Orphanet:2108/e"} is_a: MONDO:0019303 {source="Orphanet:2108"} ! premature aging syndrome is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder property_value: exactMatch DOID:4534 property_value: exactMatch http://identifiers.org/mesh/D006210 property_value: exactMatch http://identifiers.org/snomedct/7903009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018522 property_value: exactMatch https://omim.org/entry/234100 property_value: exactMatch NCIT:C84746 property_value: exactMatch Orphanet:2108 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:2108"} property_value: excluded_subClassOf MONDO:0002254 {source="DOID:4534", source="MONDO:Redundant", source="NCIT:C84746"} property_value: excluded_subClassOf MONDO:0015160 {source="Orphanet:2108"} property_value: excluded_subClassOf MONDO:0015329 {source="Orphanet:2108"} property_value: excluded_subClassOf MONDO:0019287 {source="Orphanet:2108"} property_value: excluded_subClassOf MONDO:0019699 {source="Orphanet:2108"} property_value: excluded_subClassOf MONDO:0020188 {source="Orphanet:2108"} property_value: excluded_subClassOf MONDO:0020234 {source="Orphanet:2108"} property_value: excluded_subClassOf MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:2108"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/288/hallermann-streiff-syndrome xsd:anyURI {source="GARD:0000288"} [Term] id: MONDO:0009319 name: pantothenate kinase-associated neurodegeneration def: "Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." [Orphanet:157850] subset: ordo_disease {source="Orphanet:157850"} synonym: "brain iron accumulation type I syndrome" BROAD [DOID:3981, NCIT:C8967] synonym: "Hallervorden-Spatz disease" EXACT DEPRECATED [DOID:3981, OMIM:234200] synonym: "Hallervorden-Spatz syndrome" EXACT DEPRECATED [DOID:3981, Orphanet:157850] synonym: "NBIA1" EXACT ABBREVIATION [DOID:3981, MONDO:Lexical, OMIM:234200, Orphanet:157850] synonym: "neuroaxonal dystrophy, late infantile" RELATED [GARD:0006564] synonym: "neurodegeneration with brain iron accumulation 1" EXACT [DOID:3981, MONDO:Lexical, OMIM:234200] synonym: "neurodegeneration with brain iron accumulation type 1" EXACT [MONDORULE:1, OMIM:234200, Orphanet:157850] synonym: "pantothenate kinase-associated neurodegeneration" EXACT [OMIM:234200] synonym: "pigmentary pallidal degeneration" EXACT [DOID:3981] synonym: "PKAN" EXACT ABBREVIATION [Orphanet:157850] synonym: "Pkan neuroaxonal dystrophy, juvenile-onset" RELATED [OMIM:234200] xref: DOID:3981 {source="MONDO:equivalentTo"} xref: ICD9:333.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D006211 {source="DOID:3981", source="Orphanet:157850", source="MONDO:equivalentTo", source="Orphanet:157850/e"} xref: NCIT:C84988 {source="DOID:3981", source="MONDO:equivalentTo"} xref: OMIM:234200 {source="DOID:3981", source="Orphanet:157850", source="MONDO:equivalentTo", source="Orphanet:157850/e"} xref: Orphanet:157850 {source="DOID:3981", source="MONDO:equivalentTo", source="OMIM:234200"} xref: SCTID:2992000 {source="DOID:3981", source="MONDO:equivalentTo"} xref: UMLS:C0018523 {source="DOID:3981", source="Orphanet:157850", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:234200", source="Orphanet:157850/e"} is_a: MONDO:0004884 ! eye degenerative disorder is_a: MONDO:0015905 ! syndromic dyslipidemia is_a: MONDO:0016987 {source="Orphanet:157850"} ! neuroacanthocytosis is_a: MONDO:0017760 {source="Orphanet:157850"} ! disorder of other vitamins and cofactors metabolism and transport is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis is_a: MONDO:0018307 {source="DC-OMIM:234200", source="DOID:3981", source="OMIM:234200", source="Orphanet:157850"} ! neurodegeneration with brain iron accumulation is_a: MONDO:0020240 {source="Orphanet:157850"} ! syndromic retinitis pigmentosa property_value: exactMatch DOID:3981 property_value: exactMatch http://identifiers.org/mesh/D006211 property_value: exactMatch http://identifiers.org/snomedct/2992000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018523 property_value: exactMatch https://omim.org/entry/234200 property_value: exactMatch NCIT:C84988 property_value: exactMatch Orphanet:157850 [Term] id: MONDO:0009320 name: Hall-Riggs syndrome def: "Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit." [Orphanet:2107] subset: ordo_malformation_syndrome {source="Orphanet:2107"} synonym: "Hall Riggs intellectual disability syndrome" RELATED [GARD:0002586] synonym: "Hall Riggs mental retardation syndrome" RELATED DEPRECATED [GARD:0002586] synonym: "HALL-Riggs intellectual disability syndrome" RELATED [OMIM:234250] synonym: "HALL-Riggs mental retardation syndrome" RELATED DEPRECATED [OMIM:234250] xref: MESH:C535623 {source="MONDO:equivalentTo"} xref: OMIM:234250 {source="MONDO:equivalentTo", source="Orphanet:2107", source="Orphanet:2107/e"} xref: Orphanet:2107 {source="OMIM:234250", source="MONDO:equivalentTo"} xref: SCTID:721008000 {source="MONDO:equivalentTo"} xref: UMLS:C1856198 {source="OMIM:234250", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2107", source="Orphanet:2107/e"} is_a: MONDO:0015159 {source="Orphanet:2107"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C535623 property_value: exactMatch http://identifiers.org/snomedct/721008000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856198 property_value: exactMatch https://omim.org/entry/234250 property_value: exactMatch Orphanet:2107 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2107"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0009321 name: hallux varus-preaxial polysyndactyly syndrome def: "Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980." [Orphanet:2110] subset: ordo_malformation_syndrome {source="Orphanet:2110"} synonym: "hallux varus and preaxial polysyndactyly" RELATED [OMIM:234280] synonym: "Kleiner Holmes syndrome" RELATED [GARD:0003118] synonym: "Kleiner-Holmes syndrome" EXACT [Orphanet:2110] xref: MESH:C536885 {source="MONDO:equivalentTo"} xref: OMIM:234280 {source="Orphanet:2110", source="MONDO:equivalentTo", source="Orphanet:2110/e"} xref: Orphanet:2110 {source="MONDO:equivalentTo", source="OMIM:234280"} xref: UMLS:C1856197 {source="Orphanet:2110", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:234280"} is_a: MONDO:0019054 {source="Orphanet:2110"} ! congenital limb malformation property_value: exactMatch http://identifiers.org/mesh/C536885 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856197 property_value: exactMatch https://omim.org/entry/234280 property_value: exactMatch Orphanet:2110 [Term] id: MONDO:0009324 name: Hartnup disease def: "Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine)." [Orphanet:2116] subset: gard_rare {source="GARD:0006569"} subset: ordo_disease {source="Orphanet:2116"} synonym: "aminoaciduria, Hartnup type" EXACT [Orphanet:2116] synonym: "deficiency of tryptophan oxygenase" EXACT [DOID:1060] synonym: "Hartnup disease" EXACT [OMIM:234500] synonym: "Hartnup disorder" EXACT [MONDO:Lexical, OMIM:234500, Orphanet:2116] synonym: "HND" RELATED ABBREVIATION [MONDO:Lexical, OMIM:234500] synonym: "neutral 1 amino acid transport defect" EXACT [] synonym: "neutral amino acid transport defect" EXACT [DOID:1060] xref: DOID:1060 {source="MONDO:equivalentTo"} xref: MedDRA:10019165 {source="Orphanet:2116", source="Orphanet:2116/e"} xref: MESH:D006250 {source="MONDO:equivalentTo", source="Orphanet:2116", source="DOID:1060", source="Orphanet:2116/e"} xref: NCIT:C84748 {source="MONDO:equivalentTo", source="DOID:1060"} xref: OMIM:234500 {source="MONDO:equivalentTo", source="Orphanet:2116", source="DOID:1060", source="Orphanet:2116/e"} xref: Orphanet:2116 {source="MONDO:equivalentTo", source="OMIM:234500"} xref: SCTID:80902009 {source="MONDO:equivalentTo", source="DOID:1060"} xref: UMLS:C0018609 {source="NCIT:C84748", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2116", source="OMIM:234500", source="DOID:1060", source="Orphanet:2116/e"} is_a: MONDO:0019216 {source="Orphanet:2116/inferred", source="PMID:33340416"} ! inborn disorder of amino acid transport property_value: closeMatch http://identifiers.org/meddra/10019165 property_value: exactMatch DOID:1060 property_value: exactMatch http://identifiers.org/mesh/D006250 property_value: exactMatch http://identifiers.org/snomedct/80902009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018609 property_value: exactMatch https://omim.org/entry/234500 property_value: exactMatch NCIT:C84748 property_value: exactMatch Orphanet:2116 property_value: excluded_subClassOf MONDO:0004736 {source="DOID:1060"} property_value: excluded_subClassOf MONDO:0005093 {source="MONDO:0019304-obsoleted"} property_value: excluded_subClassOf MONDO:0015951 {source="Orphanet:2116"} property_value: excluded_subClassOf MONDO:0017687 {source="Orphanet:2116"} property_value: excluded_subClassOf MONDO:0019743 {source="Orphanet:2116"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6569/hartnup-disease xsd:anyURI {source="GARD:0006569"} [Term] id: MONDO:0009325 name: obsolete deafness-enamel hypoplasia-nail defects syndrome property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2857 xsd:anyURI is_obsolete: true replaced_by: MONDO:0100229 [Term] id: MONDO:0009326 name: congenital heart block def: "Heart block that occurs on or before 28 days of life." [PMID:22368629] subset: gard_rare {source="GARD:0006164"} subset: mondo_rare {source="PMID:22368629"} subset: ordo_disease {source="Orphanet:60041"} synonym: "congenital atrioventricular block" EXACT [Orphanet:60041] synonym: "heart block, congenital" RELATED [GARD:0006164, OMIM:234700] xref: DOID:990 {source="MONDO:equivalentTo"} xref: ICD10CM:Q24.6 {source="Orphanet:60041/specific", source="Orphanet:60041/e", source="MONDO:equivalentTo", source="DOID:990", source="Orphanet:60041"} xref: ICD9:746.86 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:990"} xref: MedDRA:10019263 {source="Orphanet:60041/e", source="Orphanet:60041"} xref: MESH:C535758 {source="Orphanet:60041/e", source="MONDO:equivalentTo", source="DOID:990", source="Orphanet:60041"} xref: OMIM:234700 {source="Orphanet:60041/e", source="MONDO:equivalentTo", source="DOID:990", source="Orphanet:60041"} xref: Orphanet:60041 {source="MONDO:equivalentTo", source="OMIM:234700"} xref: SCTID:46619002 {source="MONDO:equivalentTo", source="DOID:990"} xref: UMLS:C0149530 {source="Orphanet:60041/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:990", source="OMIM:234700", source="Orphanet:60041"} is_a: MONDO:0000465 {source="DOID:990"} ! atrioventricular block relationship: has_characteristic MONDO:0021136 {source="PMID:22368629"} ! rare relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: closeMatch http://identifiers.org/meddra/10019263 property_value: exactMatch DOID:990 property_value: exactMatch http://identifiers.org/mesh/C535758 property_value: exactMatch http://identifiers.org/snomedct/46619002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149530 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q24.6 property_value: exactMatch https://omim.org/entry/234700 property_value: exactMatch Orphanet:60041 property_value: excluded_subClassOf MONDO:0015110 {source="Orphanet:60041"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6164/congenital-heart-block xsd:anyURI {source="GARD:0006164"} [Term] id: MONDO:0009329 name: pulmonary venoocclusive disease 2 def: "A rare form of pulmonary arterial hypertension (PAH) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal." [Orphanet:199241] subset: ordo_disease {source="Orphanet:199241"} synonym: "familial pulmonary capillary hemangiomatosis" RELATED [GARD:0008527] synonym: "hemangiomatosis, familial pulmonary capillary" RELATED [OMIM:234810] synonym: "pulmonary capillary hemangiomatosis" BROAD [Orphanet:199241] synonym: "pulmonary venoocclusive disease 2, autosomal recessive" RELATED [MONDO:Lexical, OMIM:234810] synonym: "PVOD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:234810] xref: DOID:0081269 {source="MONDO:equivalentTo"} xref: ICD9:416.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535861 {source="Orphanet:199241", source="MONDO:equivalentTo", source="Orphanet:199241/e"} xref: OMIM:234810 {source="Orphanet:199241", source="MONDO:equivalentTo", source="Orphanet:199241/e"} xref: Orphanet:199241 {source="MONDO:equivalentTo", source="OMIM:234810", source="https://orcid.org/0000-0001-5208-3432"} xref: SCTID:233949008 {source="MONDO:equivalentTo"} xref: UMLS:C0340548 {source="Orphanet:199241", source="MONDO:equivalentTo", source="Orphanet:199241/e"} is_a: MONDO:0009937 {source="OMIM:234810"} ! pulmonary venoocclusive disease property_value: exactMatch DOID:0081269 property_value: exactMatch http://identifiers.org/mesh/C535861 property_value: exactMatch http://identifiers.org/snomedct/233949008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0340548 property_value: exactMatch https://omim.org/entry/234810 property_value: exactMatch Orphanet:199241 property_value: excluded_subClassOf MONDO:0018554 {source="Orphanet:199241"} [Term] id: MONDO:0009331 name: isolated hemihyperplasia def: "Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma and hepoblastoma." [Orphanet:2128] subset: ordo_morphological_anomaly {source="Orphanet:2128"} synonym: "hemi 3 syndrome" EXACT [Orphanet:2128] synonym: "hemi-3 syndrome" RELATED [OMIM:235000] synonym: "Hemicorporal hypertrophy" EXACT [Orphanet:2128] synonym: "hemihyperplasia" RELATED [OMIM:235000] synonym: "hemihyperplasia, isolated" RELATED [MONDO:Lexical, OMIM:235000] synonym: "hemihypertrophy" EXACT [OMIM:235000, OMIM:genemap2] synonym: "hemihypertrophy, isolated" RELATED [OMIM:235000] synonym: "IH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:235000] synonym: "isolated hemihypertrophy" EXACT [Orphanet:2128] xref: MedDRA:10019463 {source="Orphanet:2128", source="Orphanet:2128/e"} xref: MESH:C565524 {source="MONDO:equivalentTo"} xref: OMIM:235000 {source="MONDO:equivalentTo", source="Orphanet:2128", source="Orphanet:2128/e"} xref: Orphanet:2128 {source="OMIM:235000", source="MONDO:equivalentTo"} xref: UMLS:C1856184 {source="OMIM:235000", source="MONDO:equivalentTo", source="Orphanet:2128", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019716 {source="Orphanet:2128"} ! overgrowth syndrome property_value: closeMatch http://identifiers.org/meddra/10019463 property_value: exactMatch http://identifiers.org/mesh/C565524 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856184 property_value: exactMatch https://omim.org/entry/235000 property_value: exactMatch Orphanet:2128 property_value: excluded_subClassOf MONDO:0015496 {source="Orphanet:2128"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009332 name: congenital hematological disorder def: "A disorder of the blood that is present at birth." [NCIT:C104003] synonym: "congenital haematological system disease" EXACT OMO:0003005 [] synonym: "congenital hematological disorder" EXACT [NCIT:C104003] synonym: "congenital hematological system disease" EXACT [MONDO:patterns/congenital] xref: NCIT:C104003 {source="MONDO:equivalentTo"} is_a: EFO:0005803 ! hematologic disease intersection_of: EFO:0005803 ! hematologic disease intersection_of: has_characteristic MONDO:0021140 ! congenital relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch NCIT:C104003 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0009333 name: mullerian derivatives-lymphangiectasia-polydactyly syndrome def: "Mullerian derivatives-lymphangiectasia-polydactyly syndrome is characterized by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis, and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure." [Orphanet:1655] subset: ordo_malformation_syndrome {source="Orphanet:1655"} synonym: "MULLERIAN derivatives, persistence of, with lymphangiectasia and postaxial polydactyly" RELATED [OMIM:235255] synonym: "Müllerian derivatives-lymphangiectasia-polydactyly syndrome" RELATED [Orphanet:1655] synonym: "persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly" RELATED [GARD:0005430] synonym: "renal and craniofacial anomalies with persistence of mullerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly" RELATED [GARD:0005430] synonym: "Urioste syndrome" RELATED [OMIM:235255] xref: MESH:C536478 {source="MONDO:equivalentTo"} xref: OMIM:235255 {source="MONDO:equivalentTo", source="Orphanet:1655", source="Orphanet:1655/e"} xref: Orphanet:1655 {source="OMIM:235255", source="MONDO:equivalentTo"} xref: UMLS:C1856159 {source="OMIM:235255", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema is_a: MONDO:0019520 {source="Orphanet:1655"} ! syndromic lymphedema property_value: exactMatch http://identifiers.org/mesh/C536478 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856159 property_value: exactMatch https://omim.org/entry/235255 property_value: exactMatch Orphanet:1655 [Term] id: MONDO:0009335 name: hemolytic uremic syndrome, atypical, susceptibility to, 1 subset: predisposition synonym: "Ahus, susceptibility to, 1" RELATED [OMIM:235400] synonym: "AHUS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:235400] synonym: "hemolytic uremic syndrome, atypical, susceptibility to" EXACT [OMIM:235400, OMIM:genemap2] synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:235400] synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:235400] synonym: "hemolytic uremic syndrome, typical" RELATED [OMIM:235400] synonym: "susceptibility to atypical hemolytic uremic syndrome 1" RELATED [OMIM:235400] xref: OMIM:235400 {source="MONDO:equivalentTo"} is_a: MONDO:0020573 {source="OMIM:235400"} ! inherited disease susceptibility relationship: predisposes_towards MONDO:0016244 ! atypical hemolytic-uremic syndrome property_value: exactMatch https://omim.org/entry/235400 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009338 name: hepatic veno-occlusive disease-immunodeficiency syndrome def: "Hepatic veno-occlusive disease-immunodeficiency syndrome is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease." [Orphanet:79124] subset: gard_rare subset: ordo_disease {source="Orphanet:79124"} synonym: "familial veno-occlusive disease with immunodeficiency" RELATED [MESH:C537257] synonym: "hepatic veno-occlusive disease with immunodeficiency" RELATED [MESH:C537257] synonym: "hepatic venoocclusive disease with immunodeficiency" RELATED [MONDO:Lexical, OMIM:235550] synonym: "veno-occlusive disease and immunodeficiency syndrome" RELATED [MESH:C537257] synonym: "VODI" RELATED ABBREVIATION [GARD:0010083, MESH:C537257, MONDO:Lexical, OMIM:235550] synonym: "VODI syndrome" EXACT [Orphanet:79124] xref: DOID:0112254 {source="MONDO:equivalentTo"} xref: MESH:C537257 {source="MONDO:equivalentTo"} xref: OMIM:235550 {source="Orphanet:79124/e", source="MONDO:equivalentTo", source="GARD:0010083", source="Orphanet:79124"} xref: Orphanet:79124 {source="OMIM:235550", source="MONDO:equivalentTo", source="GARD:0010083"} xref: SCTID:724361001 {source="MONDO:equivalentTo"} xref: UMLS:C1856128 {source="OMIM:235550", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="GARD:0010083", source="Orphanet:79124"} is_a: MONDO:0015823 ! primary immunodeficiency due to a defect in adaptive immunity is_a: MONDO:0019514 {source="MESH:C537257"} ! hepatic veno-occlusive disease property_value: exactMatch DOID:0112254 property_value: exactMatch http://identifiers.org/mesh/C537257 property_value: exactMatch http://identifiers.org/snomedct/724361001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856128 property_value: exactMatch https://omim.org/entry/235550 property_value: exactMatch Orphanet:79124 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10083/hepatic-venoocclusive-disease-with-immunodeficiency xsd:anyURI {source="GARD:0010083"} [Term] id: MONDO:0009339 name: congenital bile acid synthesis defect 2 def: "Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins." [Orphanet:79303] subset: ordo_disease {source="Orphanet:79303"} synonym: "AKR1D1 congenital bile acid synthesis defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "BASD2" EXACT ABBREVIATION [Orphanet:79303] synonym: "bile acid synthesis defect, congenital, 2" RELATED [MONDO:Lexical, OMIM:235555] synonym: "bile acid synthesis defect, congenital, type 2" EXACT [MONDORULE:1, OMIM:235555] synonym: "CBAS2" EXACT ABBREVIATION [DOID:0111069, MONDO:Lexical, OMIM:235555] synonym: "cholestasis with Delta(4)-3-oxosteroid 5-Beta-reductase deficiency" RELATED [OMIM:235555] synonym: "cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency" EXACT [DOID:0111069, Orphanet:79303] synonym: "congenital bile acid synthesis defect caused by mutation in AKR1D1" EXACT [MONDO:design_pattern] synonym: "congenital bile acid synthesis defect type 2" EXACT [DOID:0111069, MONDORULE:1] synonym: "congenital bile acid synthesis defect, type 2" RELATED [GARD:0010045] xref: DOID:0111069 {source="MONDO:equivalentTo"} xref: MESH:C535443 {source="Orphanet:79303", source="MONDO:equivalentTo", source="Orphanet:79303/e", source="DOID:0111069"} xref: OMIM:235555 {source="Orphanet:79303", source="MONDO:equivalentTo", source="Orphanet:79303/e", source="DOID:0111069"} xref: Orphanet:79303 {source="MONDO:equivalentTo", source="OMIM:235555", source="DOID:0111069"} xref: UMLS:C1856127 {source="Orphanet:79303", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:79303/e", source="OMIM:235555", source="DOID:0111069"} is_a: EFO:0009039 {source="DC-OMIM:235555", source="DOID:0111069", source="MONDO:Redundant", source="OMIM:235555", source="Orphanet:79303"} ! Congenital bile acid synthesis defect relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch DOID:0111069 property_value: exactMatch http://identifiers.org/mesh/C535443 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856127 property_value: exactMatch https://omim.org/entry/235555 property_value: exactMatch Orphanet:79303 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0009340 name: non-spherocytic hemolytic anemia due to hexokinase deficiency def: "Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare conditionmainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes.Itcan be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia." [GARD:0003672] subset: gard_rare subset: ordo_disease {source="Orphanet:90031"} synonym: "hemolytic anaemia due to hexokinase deficiency" EXACT OMO:0003005 [] synonym: "hemolytic anemia due to hexokinase deficiency" EXACT [OMIM:235700, OMIM:genemap2] synonym: "hemolytic anemia, nonspherocytic, due to hexokinase deficiency" RELATED [OMIM:235700] synonym: "hexokinase deficiency hemolytic anaemia" RELATED OMO:0003005 [] synonym: "hexokinase deficiency hemolytic anemia" RELATED [GARD:0003672] synonym: "nonspherocytic hemolytic anaemia due to hexokinase deficiency" RELATED OMO:0003005 [] synonym: "nonspherocytic hemolytic anemia due to hexokinase deficiency" RELATED [GARD:0003672] xref: MESH:C562995 {source="MONDO:equivalentTo"} xref: OMIM:235700 {source="Orphanet:90031", source="MONDO:equivalentTo", source="Orphanet:90031/e", source="GARD:0003672"} xref: Orphanet:90031 {source="MONDO:equivalentTo", source="OMIM:235700", source="GARD:0003672"} is_a: MONDO:0003689 ! familial hemolytic anemia is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis is_a: MONDO:0020585 ! anemia due to erythrocyte enzyme disorder property_value: exactMatch http://identifiers.org/mesh/C562995 property_value: exactMatch https://omim.org/entry/235700 property_value: exactMatch Orphanet:90031 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3672/nonspherocytic-hemolytic-anemia-due-to-hexokinase-deficiency xsd:anyURI {source="GARD:0003672"} [Term] id: MONDO:0009341 name: Mowat-Wilson syndrome def: "Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations." [Orphanet:2152] subset: gard_rare {source="GARD:0009673"} subset: ordo_malformation_syndrome {source="Orphanet:2152"} synonym: "Hirschsprung disease intellectual disability syndrome" EXACT [DOID:0060485] synonym: "Hirschsprung disease mental retardation syndrome" EXACT DEPRECATED [DOID:0060485] synonym: "Hirschsprung disease-intellectual disability syndrome" EXACT [OMIM:235730, Orphanet:2152] synonym: "Hirschsprung disease-mental retardation syndrome" RELATED DEPRECATED [OMIM:235730] synonym: "intellectual disability, microcephaly, and distinct facial features with or without Hirschsprung disease" RELATED [GARD:0009673] synonym: "mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease" RELATED DEPRECATED [GARD:0009673] synonym: "microcephaly, intellectual disability, and distinct facial featrues, with or without Hirschprung disease" EXACT [DOID:0060485] synonym: "microcephaly, intellectual disability, and distinct Facial features, with or without Hirschsprung disease" RELATED [OMIM:235730] synonym: "microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease" EXACT DEPRECATED [DOID:0060485] synonym: "microcephaly, mental retardation, and distinct Facial features, with or without Hirschsprung disease" RELATED DEPRECATED [OMIM:235730] synonym: "Mowat-Wilson syndrome" EXACT [MONDO:Lexical, OMIM:235730] synonym: "MOWS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:235730] xref: DOID:0060485 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536990 {source="DOID:0060485", source="Orphanet:2152/e", source="MONDO:equivalentTo", source="Orphanet:2152"} xref: NCIT:C74999 {source="DOID:0060485", source="MONDO:equivalentTo"} xref: OMIM:235730 {source="DOID:0060485", source="Orphanet:2152/e", source="MONDO:equivalentTo", source="Orphanet:2152"} xref: Orphanet:2152 {source="DOID:0060485", source="MONDO:equivalentTo", source="OMIM:235730"} xref: SCTID:703535000 {source="DOID:0060485", source="MONDO:equivalentTo"} xref: UMLS:C1856113 {source="DOID:0060485", source="NCIT:C74999", source="Orphanet:2152/e", source="MONDO:equivalentTo", source="OMIM:235730", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2152"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2152"} ! syndromic intellectual disability is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:2152"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015212 {source="Orphanet:2152"} ! syndromic intestinal malformation is_a: MONDO:0015653 {source="Orphanet:2152"} ! monogenic epilepsy property_value: exactMatch DOID:0060485 property_value: exactMatch http://identifiers.org/mesh/C536990 property_value: exactMatch http://identifiers.org/snomedct/703535000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856113 property_value: exactMatch https://omim.org/entry/235730 property_value: exactMatch NCIT:C74999 property_value: exactMatch Orphanet:2152 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9673/mowat-wilson-syndrome xsd:anyURI {source="GARD:0009673"} [Term] id: MONDO:0009342 name: Hirschsprung disease-hearing loss-polydactyly syndrome def: "An extremely rare malformative association, described in only two siblings to date, and characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to the symptoms of intestinal obstruction including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988." [Orphanet:2155] subset: ordo_malformation_syndrome {source="Orphanet:2155"} synonym: "Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness" NARROW [GARD:0000157] synonym: "Hirschsprung disease with polydactyly, renal agenesis, and deafness" NARROW [OMIM:235740] synonym: "Hirschsprung disease, deafness and polydactyly" NARROW [GARD:0000157] synonym: "Hirschsprung disease-deafness-polydactyly syndrome" NARROW [Orphanet:2155] synonym: "Santos Mateus Leal syndrome" RELATED [GARD:0000157] synonym: "Santos-Mateus-Leal syndrome" EXACT [Orphanet:2155] xref: MESH:C565518 {source="MONDO:equivalentTo"} xref: OMIM:235740 {source="Orphanet:2155", source="MONDO:equivalentTo", source="Orphanet:2155/e"} xref: Orphanet:2155 {source="MONDO:equivalentTo", source="OMIM:235740"} xref: SCTID:721221000 {source="MONDO:equivalentTo"} is_a: MONDO:0015161 {source="Orphanet:2155"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015246 {source="Orphanet:2155"} ! syndromic anorectal malformation is_a: MONDO:0021189 {source="Orphanet:2155"} ! intestinal motility disease property_value: exactMatch http://identifiers.org/mesh/C565518 property_value: exactMatch http://identifiers.org/snomedct/721221000 property_value: exactMatch https://omim.org/entry/235740 property_value: exactMatch Orphanet:2155 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/551 xsd:anyURI [Term] id: MONDO:0009344 name: Hirschsprung disease-nail hypoplasia-dysmorphism syndrome def: "Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions of Hirschsprung disease - nail hypoplasia - dysmorphism syndrome in the literature since 1988." [Orphanet:2153] subset: ordo_malformation_syndrome {source="Orphanet:2153"} synonym: "Al Gazali-Donnai-Muller syndrome" EXACT [Orphanet:2153] synonym: "Al-Gazali-Donnai-Mueller syndrome" RELATED [GARD:0000584] synonym: "Hirschsprung disease with hypoplastic nails and dysmorphic facial features" RELATED [OMIM:235760] synonym: "Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features" RELATED [GARD:0000584] xref: MESH:C535615 {source="MONDO:equivalentTo"} xref: OMIM:235760 {source="Orphanet:2153/e", source="MONDO:equivalentTo", source="Orphanet:2153"} xref: Orphanet:2153 {source="OMIM:235760", source="MONDO:equivalentTo"} xref: SCTID:721223002 {source="MONDO:equivalentTo"} is_a: MONDO:0015246 {source="Orphanet:2153"} ! syndromic anorectal malformation is_a: MONDO:0021189 {source="Orphanet:2153"} ! intestinal motility disease property_value: exactMatch http://identifiers.org/mesh/C535615 property_value: exactMatch http://identifiers.org/snomedct/721223002 property_value: exactMatch https://omim.org/entry/235760 property_value: exactMatch Orphanet:2153 [Term] id: MONDO:0009345 name: histidinemia def: "Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions." [Orphanet:2157] subset: gard_rare {source="GARD:0006661"} subset: mostly_harmless {source="PMID:29884839"} subset: ordo_disease {source="Orphanet:2157"} synonym: "Hal deficiency" EXACT [Orphanet:2157] synonym: "HIS deficiency" EXACT [Orphanet:2157] synonym: "histidase deficiency" EXACT [OMIM:235800, Orphanet:2157] synonym: "histidine ammonia-lyase deficiency" EXACT [OMIM:235800, Orphanet:2157] synonym: "histidinemia" EXACT [OMIM:235800, OMIM:genemap2] synonym: "Histidinuria" EXACT [Orphanet:2157] synonym: "histidinuria" EXACT [DOID:0060168] synonym: "hyperhistidinemia" EXACT [Orphanet:2157] xref: DOID:0060168 {source="MONDO:equivalentTo"} xref: ICD10CM:E70.41 {source="MONDO:equivalentTo"} xref: MESH:C538320 {source="Orphanet:2157", source="MONDO:equivalentTo", source="Orphanet:2157/e"} xref: OMIM:235800 {source="Orphanet:2157", source="MONDO:equivalentTo", source="Orphanet:2157/e"} xref: Orphanet:2157 {source="MONDO:equivalentTo", source="OMIM:235800"} xref: SCTID:410058007 {source="MONDO:equivalentTo"} xref: UMLS:C0220992 {source="Orphanet:2157", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2157/e", source="OMIM:235800"} is_a: MONDO:0019228 {source="DOID:0060168", source="PMID:33340416"} ! inborn disorder of histidine metabolism property_value: exactMatch DOID:0060168 property_value: exactMatch http://identifiers.org/mesh/C538320 property_value: exactMatch http://identifiers.org/snomedct/410058007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220992 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E70.41 property_value: exactMatch https://omim.org/entry/235800 property_value: exactMatch Orphanet:2157 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6661/histidinemia xsd:anyURI {source="GARD:0006661"} [Term] id: MONDO:0009346 name: histidinuria due to a renal tubular defect subset: ordo_disease synonym: "histidinuria due to a renal tubular defect" EXACT [OMIM:235830] synonym: "histidinuria-renal tubular defect syndrome" EXACT [Orphanet:2158] xref: MESH:C538321 {source="Orphanet:2158", source="MONDO:equivalentTo"} xref: OMIM:235830 {source="Orphanet:2158", source="MONDO:equivalentTo"} xref: Orphanet:2158 {source="MONDO:equivalentTo", source="OMIM:235830"} xref: UMLS:C0268642 {source="Orphanet:2158", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:235830"} is_a: MONDO:0009345 ! histidinemia is_a: MONDO:0019216 {source="PMID:33340416"} ! inborn disorder of amino acid transport intersection_of: MONDO:0009345 ! histidinemia intersection_of: disease_arises_from_feature EFO:0009566 ! renal tubule disease relationship: disease_arises_from_feature EFO:0009566 ! renal tubule disease property_value: exactMatch http://identifiers.org/mesh/C538321 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268642 property_value: exactMatch https://omim.org/entry/235830 property_value: exactMatch Orphanet:2158 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0009348 name: classic Hodgkin lymphoma def: "Classical Hodgkin lymphoma (CHL) is a B-cell lymphoma characterized histologically by the presence of large mononuclear Hodgkin cells and multinucleated Reed-Sternberg (HRS) cells." [Orphanet:391] subset: ordo_disease {source="Orphanet:391"} synonym: "Chl" RELATED [MONDO:Lexical, OMIM:236000] synonym: "classic Hodgkin disease" EXACT [Orphanet:391] synonym: "classical Hodgkin lymphoma" EXACT [NCIT:C7164] synonym: "classical Hodgkin's lymphoma" EXACT [NCIT:C7164] synonym: "Hodgkin disease" RELATED [OMIM:236000] synonym: "Hodgkin lymphoma, susceptibility to" RELATED [OMIM:236000, OMIM:genemap2] synonym: "lymphoma, Hodgkin, classic" RELATED [MONDO:Lexical, OMIM:236000] xref: NCIT:C7164 {source="MONDO:equivalentTo"} xref: OMIM:236000 {source="MONDO:equivalentTo", source="Orphanet:391", source="Orphanet:391/e"} xref: ONCOTREE:CHL {source="MONDO:equivalentTo"} xref: Orphanet:391 {source="OMIM:236000", source="MONDO:equivalentTo"} xref: UMLS:CN204952 {source="MONDO:equivalentTo"} is_a: EFO:0000183 {source="DC-OMIM:236000", source="NCIT:C7164", source="ONCOTREE:CHL", source="Orphanet:391"} ! Hodgkins lymphoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204952 property_value: exactMatch https://omim.org/entry/236000 property_value: exactMatch NCIT:C7164 property_value: exactMatch Orphanet:391 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009350 name: Holzgreve-Wagner-Rehder syndrome def: "A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects." [DOID:0060566, PMID:3232694] subset: ordo_malformation_syndrome {source="Orphanet:2167"} synonym: "cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome" EXACT [Orphanet:2167] synonym: "Complex congenital heart defect, renal agenesis and cleft lip and palate" RELATED [GARD:0002728] synonym: "Holzgreve syndrome" EXACT [DOID:0060566, OMIM:236110] synonym: "Holzgreve Wagner Rehder syndrome" EXACT [DOID:0060566] xref: DOID:0060566 {source="MONDO:equivalentTo"} xref: MESH:C535327 {source="Orphanet:2167", source="MONDO:equivalentTo", source="DOID:0060566", source="Orphanet:2167/e"} xref: OMIM:236110 {source="Orphanet:2167", source="MONDO:equivalentTo", source="DOID:0060566", source="Orphanet:2167/e"} xref: Orphanet:2167 {source="OMIM:236110", source="MONDO:equivalentTo"} xref: UMLS:C1856095 {source="OMIM:236110", source="Orphanet:2167", source="MONDO:equivalentTo", source="DOID:0060566", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2167/e"} is_a: MONDO:0002254 {source="DOID:0060566"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:2167"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability property_value: exactMatch DOID:0060566 property_value: exactMatch http://identifiers.org/mesh/C535327 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856095 property_value: exactMatch https://omim.org/entry/236110 property_value: exactMatch Orphanet:2167 [Term] id: MONDO:0009351 name: homocarnosinosis def: "Homocarnosinosis is a metabolic defect characterized by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed progressive spastic diplegia, mental retardation and retinitis pigmentosa but their mother was symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance in the reported family seems to be autosomal dominant." [Orphanet:2168] subset: ordo_disease {source="Orphanet:2168"} synonym: "Homocarnosinase deficiency" EXACT [OMIM:236130, Orphanet:2168] synonym: "homocarnosinosis" EXACT [OMIM:236130] xref: DOID:0060177 {source="MONDO:equivalentTo"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535328 {source="Orphanet:2168", source="MONDO:equivalentTo", source="Orphanet:2168/e"} xref: OMIM:236130 {source="Orphanet:2168", source="MONDO:equivalentTo", source="Orphanet:2168/e"} xref: Orphanet:2168 {source="OMIM:236130", source="MONDO:equivalentObsolete"} xref: SCTID:61764000 {source="MONDO:equivalentTo"} xref: UMLS:C0268632 {source="OMIM:236130", source="Orphanet:2168", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2168/e"} xref: UMLS:C3495554 {source="Orphanet:2168", source="MONDO:equivalentTo"} is_a: MONDO:0000698 {source="DOID:0060177"} ! gamma-amino butyric acid metabolism disorder is_a: MONDO:0019232 {source="Orphanet:2168", source="PMID:33340416"} ! inborn disorder of peptide metabolism property_value: exactMatch DOID:0060177 property_value: exactMatch http://identifiers.org/mesh/C535328 property_value: exactMatch http://identifiers.org/snomedct/61764000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268632 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3495554 property_value: exactMatch https://omim.org/entry/236130 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0009352 name: classic homocystinuria def: "Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system." [Orphanet:394] subset: gard_rare subset: ordo_disease {source="Orphanet:394"} synonym: "CBS deficiency" RELATED [GARD:0006667, OMIM:236200] synonym: "classic homocystinuria" EXACT [] synonym: "cystathionine beta-synthase deficiency" EXACT [GARD:0006667, OMIM:236200, Orphanet:394] synonym: "homocystinuria due to CBS deficiency" RELATED [GARD:0006667] synonym: "homocystinuria due to cystathionine beta-synthase deficiency" EXACT [GARD:0006667, OMIM:236200, Orphanet:394] synonym: "homocystinuria with or without response to pyridoxine" RELATED [OMIM:236200] synonym: "homocystinuria, B6-responsive and nonresponsive types" EXACT [OMIM:236200, OMIM:genemap2] synonym: "hyperhomocysteinemia, thrombotic, CBS-related" RELATED [OMIM:236200] synonym: "thrombosis, hyperhomocysteinemic" EXACT [OMIM:236200, OMIM:genemap2] xref: MedDRA:10071093 {source="Orphanet:394/e", source="Orphanet:394"} xref: OMIM:236200 {source="Orphanet:394/e", source="GARD:0006667", source="MONDO:equivalentTo", source="Orphanet:394"} xref: Orphanet:394 {source="GARD:0006667", source="OMIM:236200", source="MONDO:equivalentTo"} xref: SCTID:24308003 {source="MONDO:equivalentTo"} xref: UMLS:C0751202 {source="Orphanet:394/e", source="GARD:0006667", source="MONDO:equivalentTo", source="Orphanet:394"} is_a: EFO:0009674 ! lens disease is_a: MONDO:0004737 {source="DC-OMIM:236200"} ! homocystinuria is_a: MONDO:0015327 {source="MONDO:Redundant", source="Orphanet:394"} ! developmental anomaly of metabolic origin relationship: has_characteristic MONDO:0021136 ! rare property_value: closeMatch http://identifiers.org/meddra/10071093 property_value: exactMatch http://identifiers.org/snomedct/24308003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751202 property_value: exactMatch https://omim.org/entry/236200 property_value: exactMatch Orphanet:394 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6667/homocystinuria-due-to-cbs-deficiency xsd:anyURI {source="GARD:0006667"} [Term] id: MONDO:0009353 name: homocystinuria due to methylene tetrahydrofolate reductase deficiency def: "Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterized by neurological manifestations." [Orphanet:395] subset: ordo_disease {source="Orphanet:395"} synonym: "5,10 alpha methylenetetrahydro-folate reductase deficiency" RELATED [GARD:0002734] synonym: "5,10-alpha-methylenetetrahydro-folate reductase deficiency" RELATED [GARD:0002734] synonym: "Homocysteinemia due to methylenetetrahydro-folate reductase deficiency" RELATED [GARD:0002734] synonym: "Homocysteinuria due to methylenetetrahydro-folate reductase deficiency" RELATED [GARD:0002734] synonym: "homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity" RELATED [OMIM:236250] synonym: "homocystinuria due to methylene tetrahydrofolate reductase deficiency" EXACT [] synonym: "homocystinuria due to MTHFR deficiency" RELATED [GARD:0002734] synonym: "methylene tetrahydrofolate reductase deficiency" EXACT [Orphanet:395] synonym: "Methylenetetrahydro-folate reductase deficiency" RELATED [GARD:0002734] synonym: "methylenetetrahydrofolate reductase deficiency" RELATED [OMIM:236250] synonym: "MTHFR deficiency" EXACT [OMIM:236250, Orphanet:395] synonym: "MTHFR deficiency, thermolabile type" RELATED [OMIM:236250] xref: MESH:C537357 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: OMIM:236250 {source="Orphanet:395/e", source="MONDO:equivalentTo", source="Orphanet:395"} xref: Orphanet:395 {source="MONDO:equivalentTo", source="OMIM:236250"} xref: SCTID:41797007 {source="MONDO:equivalentTo"} is_a: MONDO:0004737 {source="DC-OMIM:236250"} ! homocystinuria is_a: MONDO:0017313 {source="Orphanet:395"} ! disorder of folate metabolism and transport is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy property_value: exactMatch http://identifiers.org/mesh/C537357 property_value: exactMatch http://identifiers.org/snomedct/41797007 property_value: exactMatch https://omim.org/entry/236250 property_value: exactMatch Orphanet:395 [Term] id: MONDO:0009354 name: methylcobalamin deficiency type cblE def: "An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia." [NCIT:C142173] subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:2169"} synonym: "functional methionine synthase deficiency type cblE" EXACT [Orphanet:2169] synonym: "HMAE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:236270] synonym: "homocystinuria due to defect in methylation Cbl e" RELATED [GARD:0002732] synonym: "homocystinuria-megaloblastic Anaemia due to defect in cobalamin metabolism, cblE complementation type" RELATED OMO:0003005 [] synonym: "homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblE complementation type" RELATED [OMIM:236270] synonym: "homocystinuria-megaloblastic anemia, cbl e type" EXACT [OMIM:236270, OMIM:genemap2] synonym: "homocystinuria-megaloblastic anemia, cblE complementation type" RELATED [MONDO:Lexical, OMIM:236270] synonym: "methylcobalamin deficiency type cblE" EXACT [] synonym: "methylcobalamin deficiency, cblE type" RELATED [OMIM:236270] synonym: "methylmalonic aciduria and homocystinuria type cblE" RELATED [DOID:0050732] synonym: "vitamin B12-responsive homocystinuria, cblE type" RELATED [OMIM:236270] xref: DOID:0050732 {source="EFO:0005568", source="MONDO:equivalentTo"} xref: DOID:0112255 {source="MONDO:equivalentTo"} xref: EFO:0005568 {source="MONDO:equivalentTo"} xref: MESH:C565510 {source="MONDO:equivalentTo"} xref: NCIT:C142173 {source="MONDO:equivalentTo"} xref: OMIM:236270 {source="Orphanet:2169", source="MONDO:equivalentTo", source="Orphanet:2169/e"} xref: Orphanet:2169 {source="MONDO:equivalentTo", source="OMIM:236270"} xref: UMLS:C1856057 {source="Orphanet:2169", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:236270"} is_a: MONDO:0018964 {source="MONDO:cjm", source="Orphanet:2169"} ! homocystinuria without methylmalonic aciduria property_value: exactMatch DOID:0050732 property_value: exactMatch DOID:0112255 property_value: exactMatch http://identifiers.org/mesh/C565510 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856057 property_value: exactMatch https://omim.org/entry/236270 property_value: exactMatch NCIT:C142173 property_value: exactMatch Orphanet:2169 property_value: excluded_subClassOf MONDO:0002012 {source="DOID:0050732"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009359 name: multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome subset: ordo_malformation_syndrome synonym: "hydranencephaly with renal aplasia-dysplasia" EXACT [OMIM:236500] synonym: "MARCH" RELATED ABBREVIATION [OMIM:236500] synonym: "MARCH syndrome" EXACT [Orphanet:500135] synonym: "multinucleated neurons, anhydramnios, renal dysplasia, cerebellar Hypoplasia, and hydranencephaly" RELATED [OMIM:236500] synonym: "multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly" RELATED [OMIM:236500] xref: DOID:0080327 {source="MONDO:equivalentTo"} xref: MESH:C565507 {source="MONDO:equivalentTo"} xref: OMIM:236500 {source="Orphanet:500135", source="MONDO:equivalentTo", source="DOID:0080327"} xref: Orphanet:500135 {source="MONDO:equivalentTo"} xref: UMLS:C1856053 {source="MONDO:equivalentTo", source="OMIM:236500", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:1000017 {source="DOID:0080327"} ! autosomal recessive disease is_a: MONDO:0015620 {source="Orphanet:500135"} ! syndromic urogenital tract malformation is_a: MONDO:0018731 {source="Orphanet:500135"} ! lethal multiple congenital anomalies/dysmorphic syndrome is_a: MONDO:0043009 {source="MONDO:Redundant", source="Orphanet:500135"} ! hereditary lethal multiple congenital anomalies/dysmorphic syndrome property_value: exactMatch DOID:0080327 property_value: exactMatch http://identifiers.org/mesh/C565507 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856053 property_value: exactMatch https://omim.org/entry/236500 property_value: exactMatch Orphanet:500135 [Term] id: MONDO:0009362 name: growth delay-hydrocephaly-lung hypoplasia syndrome def: "Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities." [Orphanet:3035] subset: ordo_malformation_syndrome {source="Orphanet:3035"} synonym: "game Friedman Paradice syndrome" RELATED [GARD:0002427] synonym: "game-Friedman-Paradice syndrome" EXACT [Orphanet:3035] synonym: "hydrocephalus with associated malformations" RELATED [OMIM:236640] synonym: "retarded growth, hydrocephalus, micrognathia, intestinal malrotation, omphalocele, short lower limbs and foot deformities" RELATED [GARD:0002427] xref: MESH:C535406 {source="MONDO:equivalentTo"} xref: OMIM:236640 {source="Orphanet:3035", source="MONDO:equivalentTo", source="Orphanet:3035/e"} xref: Orphanet:3035 {source="OMIM:236640", source="MONDO:equivalentTo"} xref: SCTID:716198008 {source="MONDO:equivalentTo"} xref: UMLS:C1856052 {source="Orphanet:3035", source="OMIM:236640", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015222 {source="Orphanet:3035"} ! syndromic respiratory or mediastinal malformation is_a: MONDO:0015930 {source="Orphanet:3035"} ! respiratory malformation property_value: exactMatch http://identifiers.org/mesh/C535406 property_value: exactMatch http://identifiers.org/snomedct/716198008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856052 property_value: exactMatch https://omim.org/entry/236640 property_value: exactMatch Orphanet:3035 [Term] id: MONDO:0009363 name: hydrocephaly-tall stature-joint laxity syndrome def: "Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989." [Orphanet:2181] subset: ordo_malformation_syndrome {source="Orphanet:2181"} synonym: "Daish Hardman Lamont syndrome" RELATED [GARD:0001666] synonym: "Daish-Hardman-Lamont syndrome" EXACT [Orphanet:2181] synonym: "hydrocephalus, tall stature, joint laxity and kyphoscoliosis" RELATED [GARD:0001666] synonym: "hydrocephalus, tall stature, JOINT laxity, and kyphoscoliosis" RELATED [OMIM:236660] synonym: "hydrocephaly - tall stature - joint laxity" RELATED [GARD:0001666] xref: MESH:C535770 {source="MONDO:equivalentTo"} xref: OMIM:236660 {source="Orphanet:2181/e", source="MONDO:equivalentTo", source="Orphanet:2181"} xref: Orphanet:2181 {source="OMIM:236660", source="MONDO:equivalentTo"} xref: SCTID:732926009 {source="MONDO:equivalentTo"} xref: UMLS:C1856051 {source="Orphanet:2181/e", source="OMIM:236660", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2181"} is_a: MONDO:0015161 {source="Orphanet:2181"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C535770 property_value: exactMatch http://identifiers.org/snomedct/732926009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856051 property_value: exactMatch https://omim.org/entry/236660 property_value: exactMatch Orphanet:2181 [Term] id: MONDO:0009364 name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 def: "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." [NCIT:C128118] synonym: "cerebroocular dysplasia-muscular dystrophy syndrome" RELATED [OMIM:236670] synonym: "cod-MD syndrome" RELATED [OMIM:236670] synonym: "hard syndrome" RELATED [OMIM:236670] synonym: "hydrocephalus, agyria, and retinal dysplasia" RELATED [OMIM:236670] synonym: "MDDGA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:236670] synonym: "muscle-eye-brain-POMT1 related" EXACT [https://clinicalgenome.org/affiliation/50061/] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1" EXACT [NCIT:C128118] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1" RELATED [MONDO:Lexical, OMIM:236670] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, Pomt1-related" RELATED [OMIM:236670] xref: DOID:0111237 {source="MONDO:equivalentTo"} xref: NCIT:C128118 {source="MONDO:equivalentTo"} xref: OMIM:236670 {source="MONDO:equivalentTo"} xref: Orphanet:588 {source="OMIM:236670", source="MONDO:relatedTo"} xref: Orphanet:899 {source="OMIM:236670", source="MONDO:relatedTo", source="MONDO:directSiblingOf"} xref: UMLS:C4284790 {source="MONDO:equivalentTo"} xref: UMLS:CN033898 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000171 {source="DC-OMIM:236670", source="OMIM:236670"} ! muscular dystrophy-dystroglycanopathy, type A is_a: MONDO:0700070 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in POMT1 property_value: exactMatch DOID:0111237 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4284790 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN033898 property_value: exactMatch https://omim.org/entry/236670 property_value: exactMatch NCIT:C128118 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0009367 name: McKusick-Kaufman syndrome def: "McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations." [Orphanet:2473] subset: gard_rare {source="GARD:0003427"} subset: ordo_malformation_syndrome {source="Orphanet:2473"} synonym: "HMCS" RELATED ABBREVIATION [GARD:0003427] synonym: "hydrometrocolpos syndrome" RELATED [OMIM:236700] synonym: "hydrometrocolpos, postaxial polydactyly, and congenital heart malformation" RELATED [OMIM:236700] synonym: "hydrometrocolpos-postaxial polydactyly syndrome" EXACT [Orphanet:2473] synonym: "Kaufman McKusick syndrome" RELATED [GARD:0003427] synonym: "Kaufman-Mckusick syndrome" EXACT [OMIM:236700, Orphanet:2473] synonym: "McKusick Kaufman syndrome" RELATED [GARD:0003427] synonym: "MCKUSICK-Kaufman syndrome" RELATED [OMIM:236700] synonym: "McKusick-Kaufman syndrome" EXACT [MONDO:Lexical, OMIM:236700] synonym: "MKKS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:236700] xref: DOID:0111255 {source="MONDO:equivalentTo"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10052312 {source="Orphanet:2473", source="Orphanet:2473/e"} xref: MESH:C538159 {source="Orphanet:2473", source="MONDO:equivalentTo", source="Orphanet:2473/e"} xref: OMIM:236700 {source="Orphanet:2473", source="MONDO:equivalentTo", source="Orphanet:2473/e"} xref: Orphanet:2473 {source="MONDO:equivalentTo", source="OMIM:236700"} xref: SCTID:702407009 {source="MONDO:equivalentTo"} xref: UMLS:C0948368 {source="Orphanet:2473", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2473/e", source="OMIM:236700"} is_a: MONDO:0015161 {source="Orphanet:2473"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: closeMatch http://identifiers.org/meddra/10052312 property_value: exactMatch DOID:0111255 property_value: exactMatch http://identifiers.org/mesh/C538159 property_value: exactMatch http://identifiers.org/snomedct/702407009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0948368 property_value: exactMatch https://omim.org/entry/236700 property_value: exactMatch Orphanet:2473 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3427/mckusick-kaufman-syndrome xsd:anyURI {source="GARD:0003427"} [Term] id: MONDO:0009370 name: L-2-hydroxyglutaric aciduria def: "L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy." [Orphanet:79314] subset: gard_rare {source="GARD:0010472"} subset: ordo_disease {source="Orphanet:79314"} synonym: "L-2-HGA" EXACT [Orphanet:79314] synonym: "L-2-hydroxyglutaric acidemia" EXACT [DOID:0050574, OMIM:236792, Orphanet:79314] synonym: "L-2-hydroxyglutaric aciduria" EXACT [MONDO:Lexical, OMIM:236792] synonym: "L2HGA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:236792] xref: DOID:0050574 {source="MONDO:equivalentTo"} xref: OMIM:236792 {source="Orphanet:79314", source="DOID:0050574", source="MONDO:equivalentTo", source="Orphanet:79314/e"} xref: Orphanet:79314 {source="OMIM:236792", source="MONDO:equivalentTo"} xref: SCTID:237961001 {source="MONDO:equivalentTo"} xref: UMLS:C1855995 {source="Orphanet:79314", source="OMIM:236792", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C3888081 {source="Orphanet:79314", source="MONDO:equivalentTo"} is_a: MONDO:0016001 {source="DOID:0050574", source="Orphanet:79314"} ! 2-hydroxyglutaric aciduria property_value: exactMatch DOID:0050574 property_value: exactMatch http://identifiers.org/snomedct/237961001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855995 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888081 property_value: exactMatch https://omim.org/entry/236792 property_value: exactMatch Orphanet:79314 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10472/l-2-hydroxyglutaric-aciduria xsd:anyURI {source="GARD:0010472"} [Term] id: MONDO:0009371 name: 3-hydroxyisobutyric aciduria def: "3 hydroxyisobutyric aciduria is characterized by ketoacidotic episodes, cerebral anomalies and facial dysmorphism. It is an organic aciduria that involves valine metabolism. Thirteen cases have been described in the literature so far. Transmission is thought to be autosomal recessive." [Orphanet:939] subset: gard_rare {source="GARD:0005662"} subset: ordo_disease {source="Orphanet:939"} synonym: "3-hydroxyisobutyric aciduria" EXACT [OMIM:236795] synonym: "disorder of valine metabolism" RELATED [GARD:0005662] xref: ICD9:791.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535312 {source="Orphanet:939/e", source="MONDO:equivalentTo", source="Orphanet:939"} xref: OMIM:236795 {source="Orphanet:939/e", source="MONDO:equivalentTo", source="Orphanet:939"} xref: Orphanet:939 {source="OMIM:236795", source="MONDO:equivalentTo"} xref: SCTID:237957007 {source="MONDO:equivalentTo"} xref: UMLS:C0342737 {source="Orphanet:939/e", source="OMIM:236795", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:939"} is_a: MONDO:0019215 {source="Orphanet:939"} ! classic organic aciduria is_a: MONDO:0019242 ! inborn disorder of branched-chain amino acid metabolism is_a: MONDO:0037870 ! valine metabolism disease property_value: exactMatch http://identifiers.org/mesh/C535312 property_value: exactMatch http://identifiers.org/snomedct/237957007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342737 property_value: exactMatch https://omim.org/entry/236795 property_value: exactMatch Orphanet:939 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5662/3-hydroxyisobutyric-aciduria xsd:anyURI {source="GARD:0005662"} [Term] id: MONDO:0009372 name: encephalopathy due to hydroxykynureninuria def: "Encephalopathy due to hydroxykynureninuria is characterized by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway." [Orphanet:79155] subset: ordo_disease {source="Orphanet:79155"} synonym: "hydroxykynureninuria" RELATED [OMIM:236800] synonym: "kynureninase deficiency" EXACT [OMIM:236800, Orphanet:79155] synonym: "kynureninase deficiency, partial" RELATED [OMIM:236800] synonym: "Xanthurenic aciduria" EXACT [OMIM:236800, Orphanet:79155] xref: DOID:0112257 {source="MONDO:equivalentTo"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536081 {source="MONDO:equivalentTo"} xref: OMIM:236800 {source="Orphanet:79155/e", source="MONDO:equivalentTo", source="Orphanet:79155"} xref: Orphanet:79155 {source="MONDO:equivalentTo", source="OMIM:236800"} xref: SCTID:72945002 {source="MONDO:equivalentTo"} xref: UMLS:C0268474 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:79155", source="OMIM:236800"} is_a: MONDO:0017350 {source="Orphanet:79155"} ! inborn disorder of tryptophan metabolism property_value: exactMatch DOID:0112257 property_value: exactMatch http://identifiers.org/mesh/C536081 property_value: exactMatch http://identifiers.org/snomedct/72945002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268474 property_value: exactMatch https://omim.org/entry/236800 property_value: exactMatch Orphanet:79155 [Term] id: MONDO:0009373 name: seizures-intellectual disability due to hydroxylysinuria syndrome def: "Seizures-intellectual disability due to hydroxylysinuria syndrome is characterized by hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient." [Orphanet:79156] subset: ordo_disease {source="Orphanet:79156"} synonym: "hydroxylysinuria" RELATED [OMIM:236900] xref: MESH:C565502 {source="MONDO:equivalentTo"} xref: OMIM:236900 {source="Orphanet:79156/e", source="MONDO:equivalentTo", source="Orphanet:79156"} xref: Orphanet:79156 {source="MONDO:equivalentTo", source="OMIM:236900"} xref: UMLS:C1855986 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:236900"} is_a: MONDO:0017351 {source="Orphanet:79156"} ! inborn disorder of lysine and hydroxylysine metabolism property_value: exactMatch http://identifiers.org/mesh/C565502 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855986 property_value: exactMatch https://omim.org/entry/236900 property_value: exactMatch Orphanet:79156 [Term] id: MONDO:0009374 name: hydroxyprolinemia subset: mostly_harmless {source="PMID:29884839"} synonym: "4 alpha hydroxy-L-proline oxidase deficiency" RELATED [GARD:0010717] synonym: "4-hydroxy-L-proline oxidase deficiency" RELATED [OMIM:237000] synonym: "HYDROXYPROLINEMIA" RELATED ABBREVIATION [OMIM:237000] synonym: "Hydroxyprolinemia" EXACT [MONDO:ambiguous] synonym: "hydroxyprolinemia" EXACT [] synonym: "hydroxyprolinemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0003260 {source="MONDO:otherHierarchy"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562669 {source="MONDO:equivalentTo"} xref: OMIM:237000 {source="MONDO:equivalentTo"} xref: SCTID:25739007 {source="MONDO:equivalentTo"} xref: UMLS:C0268531 {source="OMIM:237000", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0000508 {source="MESH:C562669/inferred"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C562669 property_value: exactMatch http://identifiers.org/snomedct/25739007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268531 property_value: exactMatch https://omim.org/entry/237000 property_value: IAO:0000589 "hydroxyprolinemia (disease)" xsd:string [Term] id: MONDO:0009377 name: hyperammonemia due to N-acetylglutamate synthase deficiency def: "N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia." [Orphanet:927] subset: ordo_disease {source="Orphanet:927"} synonym: "hyperammonemia due to N-acetylglutamate synthase deficiency" EXACT [] synonym: "hyperammonemia due to N-acetylglutamate synthetase deficiency" RELATED [OMIM:237310] synonym: "N-acetyl glutamate synthetase deficiency" RELATED [GARD:0007158] synonym: "N-acetylglutamate synthase deficiency" RELATED [MONDO:Lexical, OMIM:237310] synonym: "N-acetylglutamate synthetase deficiency" RELATED [OMIM:237310] synonym: "NAG synthetase deficiency" RELATED [GARD:0007158] synonym: "NAGS deficiency" EXACT [Orphanet:927] synonym: "Nags deficiency" RELATED [OMIM:237310] synonym: "NAGSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:237310] xref: DOID:0112258 {source="MONDO:equivalentTo"} xref: MESH:C536109 {source="MONDO:equivalentTo"} xref: NCIT:C129307 {source="MONDO:equivalentTo"} xref: OMIM:237310 {source="Orphanet:927/e", source="MONDO:equivalentTo", source="Orphanet:927"} xref: Orphanet:927 {source="OMIM:237310", source="MONDO:equivalentTo"} xref: SCTID:57119000 {source="MONDO:equivalentTo"} is_a: MONDO:0800153 {source="PMID:33340416"} ! urea cycle disorder or inherited hyperammonemia property_value: exactMatch DOID:0112258 property_value: exactMatch http://identifiers.org/mesh/C536109 property_value: exactMatch http://identifiers.org/snomedct/57119000 property_value: exactMatch https://omim.org/entry/237310 property_value: exactMatch NCIT:C129307 property_value: exactMatch Orphanet:927 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0009378 name: hyper-beta-alaninemia def: "Hyperbetaalaninemia is a very rare metabolic condition.Hyperbetaalaninemia refers to thebuild-upof protein building blocks, called beta amino acids, in the body. The excess beta amino acidsare neurotoxic to the body. Signs and symptoms of hyperbetaalaninemia includeconvulsions (rapid and uncontrollable shaking), lethargy, and encephalopathy.Hyperbetaalaninemia is thought to be due to a loss ofa functional form of the enzyme,beta-alanine-alpha-ketoglutarate transaminase.Treatment with oral pyridoxine wasdemonstrated to be helpful in one case." [GARD:0010267] subset: gard_rare subset: ordo_disease {source="Orphanet:309147"} synonym: "hyper-beta-alaninemia" EXACT [GARD:0010267, OMIM:237400] synonym: "hyperalaninemia" EXACT [GARD:0010267, OMIM:237400, Orphanet:309147] synonym: "hyperbetaalaninemia" RELATED [GARD:0010267] xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562684 {source="MONDO:equivalentTo"} xref: OMIM:237400 {source="Orphanet:309147/e", source="GARD:0010267", source="MONDO:equivalentTo", source="Orphanet:309147"} xref: Orphanet:309147 {source="GARD:0010267", source="OMIM:237400", source="MONDO:equivalentTo"} xref: SCTID:2359002 {source="MONDO:equivalentTo"} xref: UMLS:C0268630 {source="Orphanet:309147/e", source="GARD:0010267", source="OMIM:237400", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:309147"} is_a: MONDO:0019238 {source="Orphanet:309147"} ! inborn disorder of pyrimidine metabolism property_value: exactMatch http://identifiers.org/mesh/C562684 property_value: exactMatch http://identifiers.org/snomedct/2359002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268630 property_value: exactMatch https://omim.org/entry/237400 property_value: exactMatch Orphanet:309147 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10267/hyperbetaalaninemia xsd:anyURI {source="GARD:0010267"} [Term] id: MONDO:0009379 name: Rotor syndrome def: "Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology." [Orphanet:3111] subset: gard_rare {source="GARD:0000218"} subset: ordo_disease {source="Orphanet:3111"} synonym: "HBLRR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:237450] synonym: "hyperbilirubinemia, ROTOR type" RELATED [MONDO:Lexical, OMIM:237450] synonym: "hyperbilirubinemia, Rotor type" EXACT [Orphanet:3111] synonym: "hyperbilirubinemia, rotor type, digenic" EXACT [OMIM:237450, OMIM:genemap2] synonym: "Rotor syndrome" EXACT [OMIM:237450] synonym: "Rotor-type hyperbilirubinemia" RELATED [GARD:0000218] xref: MedDRA:10039234 {source="Orphanet:3111", source="Orphanet:3111/e"} xref: OMIM:237450 {source="Orphanet:3111", source="MONDO:equivalentTo", source="Orphanet:3111/e"} xref: Orphanet:3111 {source="OMIM:237450", source="MONDO:equivalentTo"} xref: SCTID:32891000 {source="MONDO:equivalentTo"} xref: UMLS:C0220991 {source="OMIM:237450", source="Orphanet:3111", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3111/e"} is_a: MONDO:0002408 {source="DC-OMIM:237450", source="OMIM:237450"} ! hereditary hyperbilirubinemia relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare property_value: closeMatch http://identifiers.org/meddra/10039234 property_value: exactMatch http://identifiers.org/snomedct/32891000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220991 property_value: exactMatch https://omim.org/entry/237450 property_value: exactMatch Orphanet:3111 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/218/rotor-syndrome xsd:anyURI {source="GARD:0000218"} [Term] id: MONDO:0009380 name: Dubin-Johnson syndrome def: "Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells." [Orphanet:234] subset: gard_rare subset: ordo_disease {source="Orphanet:234"} synonym: "chronic idiopathic jaundice" EXACT [DOID:12308] synonym: "conjugated hyperbilirubinemia" RELATED [GARD:0006289] synonym: "DJS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:237500] synonym: "Dubin Johnson syndrome" EXACT [DOID:12308] synonym: "Dubin-Johnson syndrome" EXACT [MONDO:Lexical, OMIM:237500] synonym: "Dubin-Sprinz disease" EXACT [Orphanet:234] synonym: "hyperbilirubinemia 2" RELATED [OMIM:237500] synonym: "hyperbilirubinemia type 2" EXACT [Orphanet:234] synonym: "hyperbilirubinemia, Dubin-Johnson type" RELATED [OMIM:237500] synonym: "Sprinz-Nelson syndrome" EXACT [Orphanet:234] xref: DOID:12308 {source="MONDO:equivalentTo"} xref: MedDRA:10013800 {source="Orphanet:234/e", source="Orphanet:234"} xref: MESH:D007566 {source="DOID:12308", source="Orphanet:234/e", source="MONDO:equivalentTo", source="Orphanet:234"} xref: NCIT:C34741 {source="DOID:12308", source="MONDO:equivalentTo"} xref: OMIM:237500 {source="DOID:12308", source="Orphanet:234/e", source="MONDO:equivalentTo", source="Orphanet:234"} xref: Orphanet:234 {source="MONDO:equivalentTo", source="OMIM:237500"} xref: SCTID:44553005 {source="DOID:12308", source="MONDO:equivalentTo"} xref: UMLS:C0022350 {source="DOID:12308", source="Orphanet:234/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:237500", source="NCIT:C34741", source="Orphanet:234"} is_a: MONDO:0002254 {source="NCIT:C34741"} ! syndromic disease is_a: MONDO:0002408 {source="DC-OMIM:237500", source="DOID:12308", source="MESH:D007566", source="OMIM:237500"} ! hereditary hyperbilirubinemia relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare property_value: closeMatch http://identifiers.org/meddra/10013800 property_value: exactMatch DOID:12308 property_value: exactMatch http://identifiers.org/mesh/D007566 property_value: exactMatch http://identifiers.org/snomedct/44553005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022350 property_value: exactMatch https://omim.org/entry/237500 property_value: exactMatch NCIT:C34741 property_value: exactMatch Orphanet:234 [Term] id: MONDO:0009383 name: transient familial neonatal hyperbilirubinemia subset: gard_rare subset: ordo_disease {source="Orphanet:2312"} synonym: "breast milk jaundice" RELATED [OMIM:237900] synonym: "HBLRTFN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:237900] synonym: "hyperbilirubinemia transient familial neonatal" RELATED [GARD:0002791] synonym: "hyperbilirubinemia, familial transient neonatal" EXACT [OMIM:237900, OMIM:genemap2] synonym: "hyperbilirubinemia, transient familial neonatal" RELATED [MONDO:Lexical, OMIM:237900] synonym: "Lucey-Driscoll syndrome" EXACT [OMIM:237900, Orphanet:2312] synonym: "transient familial hyperbilirubinemia" RELATED [GARD:0003304] xref: MESH:C562692 {source="MONDO:equivalentTo"} xref: OMIM:237900 {source="Orphanet:2312", source="MONDO:equivalentTo", source="Orphanet:2312/e"} xref: Orphanet:2312 {source="MONDO:equivalentTo", source="OMIM:237900", source="GARD:0002791"} xref: UMLS:C0270210 {source="Orphanet:2312", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:237900", source="GARD:0002791"} is_a: EFO:0001421 {source="Orphanet:2312"} ! liver disease is_a: MONDO:0002408 {source="DC-OMIM:237900", source="MESH:C562692", source="OMIM:237900"} ! hereditary hyperbilirubinemia relationship: has_characteristic MONDO:0021136 {source="MONDO:0015507"} ! rare property_value: exactMatch http://identifiers.org/mesh/C562692 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270210 property_value: exactMatch https://omim.org/entry/237900 property_value: exactMatch Orphanet:2312 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2791/hyperbilirubinemia-transient-familial-neonatal xsd:anyURI {source="GARD:0002791"} [Term] id: MONDO:0009384 name: Leydig cell hypoplasia, type 1 def: "Any Leydig cell hypoplasia in which the cause of the disease is a mutation in the LHCGR gene." [MONDO:patterns/disease_series_by_gene] synonym: "hypergonadotropic hypogonadism, Male, due to Lhcgr defect" RELATED [OMIM:238320] synonym: "Leydig cell agenesis" RELATED [OMIM:238320] synonym: "Leydig cell hypoplasia caused by mutation in LHCGR" EXACT [MONDO:design_pattern] synonym: "leydig cell hypoplasia with hypergonadotropic hypogonadism" EXACT [OMIM:238320, OMIM:genemap2] synonym: "Leydig cell hypoplasia with male pseudohermaphroditism" RELATED [OMIM:238320] synonym: "leydig cell hypoplasia with pseudohermaphroditism" EXACT [OMIM:238320, OMIM:genemap2] synonym: "Leydig cell hypoplasia, complete" RELATED [OMIM:238320] synonym: "Leydig cell hypoplasia, partial" RELATED [OMIM:238320] synonym: "Leydig cell Hypoplasia, type 2" RELATED [OMIM:238320] synonym: "Leydig cell hypoplasia, type I" RELATED [OMIM:238320] synonym: "LHCGR Leydig cell hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "luteinizing hormone resistance, female" RELATED [OMIM:238320] xref: OMIM:238320 {source="MONDO:equivalentTo"} is_a: MONDO:0019155 {source="MONDO:Redundant", source="Orphanet:755/btnt"} ! Leydig cell hypoplasia property_value: exactMatch https://omim.org/entry/238320 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009387 name: familial lipoprotein lipase deficiency def: "Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines." [https://rarediseases.info.nih.gov/diseases/12241/familial-lipoprotein-lipase-deficiency] subset: gard_rare {source="GARD:0012241"} subset: ordo_clinical_subtype {source="Orphanet:309015"} synonym: "Burger-Grutz syndrome" RELATED [GARD:0012241] synonym: "chylomicronemia, familial" RELATED [OMIM:238600] synonym: "endogenous hypertriglyceridaemia" RELATED [GARD:0012241] synonym: "familial chylomiconemia syndrome" EXACT [DOID:14118] synonym: "familial fat-induced hypertriglyceridemia" RELATED [GARD:0012241] synonym: "familial hyperchylomicronemia" RELATED [GARD:0012241] synonym: "familial hyperlipoproteinemia type I" EXACT [DOID:14118] synonym: "familial lipoprotein lipase deficiency (disorder) [ambiguous]" EXACT [DOID:14118] synonym: "familial lipoprotein lipase deficiency with type I phenotype" EXACT [DOID:14118] synonym: "familial LPL deficiency" EXACT [DOID:14118] synonym: "Fredrickson type I hyperlipoproteinemia" EXACT [DOID:14118] synonym: "Fredrickson type I lipaemia" EXACT [DOID:14118] synonym: "high density lipoprotein cholesterol level QTL 11" EXACT [OMIM:238600, OMIM:genemap2] synonym: "hypercholesterinaemic xanthomatosis" EXACT [DOID:14118] synonym: "hyperchylomicronemia" EXACT [DOID:14118, ICD9CM:272.3] synonym: "hyperchylomicronemia, familial" RELATED [OMIM:238600] synonym: "hyperlipemia, essential familial" RELATED [OMIM:238600] synonym: "hyperlipemia, idiopathic, Burger-Grutz type" RELATED [OMIM:238600] synonym: "hyperlipoproteinemia type I" EXACT [NCIT:C84771] synonym: "hyperlipoproteinemia, type 1" RELATED [OMIM:238600] synonym: "hyperlipoproteinemia, type 1A" RELATED [OMIM:238600] synonym: "hyperlipoproteinemia, type I" RELATED [OMIM:238600] synonym: "lipase D deficiency" RELATED [OMIM:238600] synonym: "lipd deficiency" RELATED [OMIM:238600] synonym: "lipoprotein lipase deficiency" RELATED [OMIM:238600] synonym: "lipoprotein lipase deficiency, familial" RELATED [GARD:0012241] synonym: "LPL deficiency" EXACT [OMIM:238600, Orphanet:309015] synonym: "mixed hyperglyceridemia" EXACT [DOID:14118] synonym: "type I hyperlipoproteinemia" RELATED [GARD:0012241] xref: DOID:14118 {source="MONDO:equivalentTo"} xref: ICD9:272.3 {source="DOID:14118"} xref: MESH:D008072 {source="DOID:14118", source="MONDO:equivalentTo"} xref: NCIT:C84771 {source="DOID:14118", source="MONDO:equivalentTo"} xref: OMIM:238600 {source="DOID:14118", source="Orphanet:309015/e", source="MONDO:equivalentTo", source="Orphanet:309015"} xref: Orphanet:309015 {source="MONDO:equivalentTo", source="OMIM:238600"} xref: SCTID:275598004 {source="DOID:14118", source="MONDO:equivalentTo"} is_a: MONDO:0001336 {source="DC-OMIM:238600", source="DOID:14118", source="MONDO:indirect"} ! familial hyperlipidemia is_a: MONDO:0018637 {source="Orphanet:309015"} ! familial chylomicronemia syndrome is_a: MONDO:0037748 {source="NCIT:C84771"} ! hyperlipoproteinemia property_value: exactMatch DOID:14118 property_value: exactMatch http://identifiers.org/mesh/D008072 property_value: exactMatch http://identifiers.org/snomedct/275598004 property_value: exactMatch https://omim.org/entry/238600 property_value: exactMatch NCIT:C84771 property_value: exactMatch Orphanet:309015 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12241/familial-lipoprotein-lipase-deficiency xsd:anyURI {source="GARD:0012241"} [Term] id: MONDO:0009388 name: hyperlysinemia def: "Hyperlysinaemia is a lysine metabolism disorder characterized by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present." [Orphanet:2203] subset: ordo_disease {source="Orphanet:2203"} synonym: "Alpha-aminoadipic semialdehyde synthase deficiency" RELATED [OMIM:238700] synonym: "hyperlysinemia" EXACT [MONDO:ambiguous] synonym: "hyperlysinemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "hyperlysinemia type I" EXACT [Orphanet:2203] synonym: "hyperlysinemia, type 1" RELATED [OMIM:238700] synonym: "hyperlysinemia, type I" RELATED [OMIM:238700] synonym: "L-lysine NAD-oxido-reductase deficiency" RELATED [GARD:0002828] synonym: "L-lysine:NAD-oxido-reductase deficiency" RELATED [OMIM:238700] synonym: "lysine alpha-ketoglutarate reductase deficiency" EXACT [Orphanet:2203] synonym: "lysine intolerance" RELATED [OMIM:238700] synonym: "lysine:Alpha-ketoglutarate reductase deficiency" RELATED [OMIM:238700] xref: DOID:9274 {source="MONDO:equivalentTo"} xref: HP:0002161 {source="MONDO:otherHierarchy"} xref: ICD9:270.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C123433 {source="MONDO:equivalentTo", source="DOID:9274"} xref: OMIM:238700 {source="Orphanet:2203", source="MONDO:equivalentTo", source="DOID:9274", source="Orphanet:2203/e"} xref: Orphanet:2203 {source="MONDO:equivalentTo", source="OMIM:238700", source="DOID:9274"} xref: SCTID:58558003 {source="MONDO:equivalentTo", source="DOID:9274"} xref: UMLS:C0268553 {source="Orphanet:2203", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:9274", source="Orphanet:2203/e", source="NCIT:C123433"} is_a: MONDO:0004736 {source="DOID:9274", source="MONDO:indirect"} ! inborn disorder of amino acid metabolism is_a: MONDO:0017351 {source="Orphanet:2203"} ! inborn disorder of lysine and hydroxylysine metabolism property_value: exactMatch DOID:9274 property_value: exactMatch http://identifiers.org/snomedct/58558003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268553 property_value: exactMatch https://omim.org/entry/238700 property_value: exactMatch NCIT:C123433 property_value: exactMatch Orphanet:2203 property_value: IAO:0000589 "hyperlysinemia (disease)" xsd:string [Term] id: MONDO:0009393 name: ornithine translocase deficiency def: "A rare, genetic disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or coagulation defects or other chronic liver dysfunction." [Orphanet:415] subset: ordo_disease {source="Orphanet:415"} synonym: "HHH" RELATED ABBREVIATION [GARD:0002830] synonym: "HHH syndrome" EXACT [DOID:0050720, Orphanet:415] synonym: "Hhh syndrome" RELATED [OMIM:238970] synonym: "HHHS" RELATED ABBREVIATION [GARD:0002830] synonym: "hyperornithinemia-hyperammonemia-homocitrullinemia syndrome" EXACT [OMIM:238970, OMIM:genemap2] synonym: "hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome" EXACT [DOID:0050720] synonym: "hyperornithinemia-hyperammonemia-homocitrullinuria syndrome" RELATED [OMIM:238970] synonym: "ornithine carrier deficiency" EXACT [Orphanet:415] synonym: "ornithine translocase deficiency" EXACT [OMIM:238970, Orphanet:415] synonym: "ornithine translocase deficiency syndrome" RELATED [GARD:0002830] synonym: "ORNT1 deficiency" EXACT [Orphanet:415] synonym: "triple H syndrome" EXACT [Orphanet:415] xref: DOID:0050720 {source="MONDO:equivalentTo"} xref: MESH:C538380 {source="MONDO:equivalentTo"} xref: NCIT:C129029 {source="MONDO:equivalentTo"} xref: OMIM:238970 {source="DOID:0050720", source="Orphanet:415", source="MONDO:equivalentTo", source="Orphanet:415/e"} xref: Orphanet:415 {source="OMIM:238970", source="MONDO:equivalentTo"} xref: SCTID:30287008 {source="MONDO:equivalentTo"} xref: UMLS:C0268540 {source="OMIM:238970", source="Orphanet:415", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:415/e"} is_a: MONDO:0002254 {source="NCIT:C129029"} ! syndromic disease is_a: MONDO:0800153 {source="PMID:33340416"} ! urea cycle disorder or inherited hyperammonemia property_value: exactMatch DOID:0050720 property_value: exactMatch http://identifiers.org/mesh/C538380 property_value: exactMatch http://identifiers.org/snomedct/30287008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268540 property_value: exactMatch https://omim.org/entry/238970 property_value: exactMatch NCIT:C129029 property_value: exactMatch Orphanet:415 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0009394 name: juvenile Paget disease def: "Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss." [Orphanet:2801] subset: gard_rare {source="GARD:0002831"} subset: ordo_malformation_syndrome {source="Orphanet:2801"} synonym: "familial hyperphosphatasia" EXACT [NCIT:C131861] synonym: "familial osteoectasia" EXACT [Orphanet:2801] synonym: "hereditary hyperphosphatasia" EXACT [Orphanet:2801] synonym: "hyperostosid corticalis deformans juvenilis" RELATED [GARD:0002831] synonym: "hyperostosis corticalis deformans juvenilis" EXACT [OMIM:239000, Orphanet:2801] synonym: "hyperphosphatasemia, chronic congenital idiopathic" RELATED [OMIM:239000] synonym: "hyperphosphatasia, familial idiopathic" RELATED [OMIM:239000] synonym: "JPD" RELATED ABBREVIATION [GARD:0002831] synonym: "JPG" EXACT ABBREVIATION [Orphanet:2801] synonym: "juvenile Paget disease" EXACT [OMIM:239000] synonym: "juvenile Paget's disease" EXACT [Orphanet:2801] synonym: "juvenile Pagets disease" RELATED [GARD:0002831] synonym: "osteoectasia, familial" RELATED [OMIM:239000] synonym: "Paget disease juvenile type" RELATED [GARD:0002831] synonym: "Paget disease of bone 5, juvenile-onset" RELATED [GARD:0002831, MONDO:Lexical, OMIM:239000] synonym: "PDB5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:239000] xref: DOID:0081368 {source="MONDO:equivalentTo"} xref: MESH:C537701 {source="MONDO:equivalentTo"} xref: NCIT:C131861 {source="MONDO:equivalentTo"} xref: OMIM:239000 {source="MONDO:equivalentTo", source="Orphanet:2801", source="Orphanet:2801/e"} xref: Orphanet:2801 {source="MONDO:equivalentTo", source="OMIM:239000"} xref: SCTID:9723006 {source="MONDO:equivalentTo"} is_a: EFO:0004261 {source="DC-OMIM:239000", source="NCIT:C131861", source="OMIM:239000"} ! osteitis deformans is_a: MONDO:0800084 {source="PMID:31633310"} ! primary bone dysplasia with increased bone density property_value: exactMatch DOID:0081368 property_value: exactMatch http://identifiers.org/mesh/C537701 property_value: exactMatch http://identifiers.org/snomedct/9723006 property_value: exactMatch https://omim.org/entry/239000 property_value: exactMatch NCIT:C131861 property_value: exactMatch Orphanet:2801 property_value: excluded_subClassOf MONDO:0019703 {source="Orphanet:2801"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2831/juvenile-paget-disease xsd:anyURI {source="GARD:0002831"} [Term] id: MONDO:0009395 name: hyperostosis corticalis generalisata def: "Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies." [Orphanet:3416] subset: ordo_malformation_syndrome {source="Orphanet:3416"} synonym: "endosteal hyperostosis" EXACT [NCIT:C131812] synonym: "endosteal hyperostosis autosomal recessive" RELATED [GARD:0002833] synonym: "endosteal hyperostosis, autosomal recessive" RELATED [OMIM:239100] synonym: "hyperostosis corticalis generalisata" EXACT [OMIM:239100] synonym: "hyperphosphatasemia tarda" EXACT [OMIM:239100, Orphanet:3416] synonym: "SOST-related sclerosing bone dysplasia" RELATED [DOID:0080036] synonym: "VAN Buchem disease" RELATED [OMIM:239100] synonym: "Van Buchem disease" EXACT [OMIM:239100, Orphanet:3416] synonym: "van Buchem disease" EXACT [DOID:0080036] synonym: "van Buchem disease type 1" EXACT [NCIT:C131812] synonym: "VBCH" RELATED ABBREVIATION [GARD:0002833, OMIM:239100] xref: DOID:0080036 {source="MONDO:equivalentTo"} xref: NCIT:C131812 {source="MONDO:equivalentTo"} xref: OMIM:239100 {source="MONDO:equivalentTo", source="DOID:0080036", source="Orphanet:3416", source="Orphanet:3416/e"} xref: Orphanet:3416 {source="OMIM:239100", source="MONDO:equivalentTo"} xref: SCTID:59763006 {source="MONDO:equivalentTo"} is_a: MONDO:0002185 {source="DOID:0080036", source="NCIT:C131812"} ! hyperostosis is_a: MONDO:0800084 {source="PMID:31633310"} ! primary bone dysplasia with increased bone density property_value: exactMatch DOID:0080036 property_value: exactMatch http://identifiers.org/snomedct/59763006 property_value: exactMatch https://omim.org/entry/239100 property_value: exactMatch NCIT:C131812 property_value: exactMatch Orphanet:3416 property_value: excluded_subClassOf MONDO:0019703 {source="Orphanet:3416"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0009397 name: neonatal severe primary hyperparathyroidism def: "Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism." [Orphanet:417] subset: ordo_disease {source="Orphanet:417"} synonym: "hyperparathyroidism, neonatal" EXACT [OMIM:239200, OMIM:genemap2] synonym: "hyperparathyroidism, neonatal severe" RELATED [MONDO:Lexical, OMIM:239200] synonym: "hyperparathyroidism, neonatal severe primary" RELATED [OMIM:239200] synonym: "neonatal severe hyperparathyroidism" RELATED [GARD:0002838] synonym: "NSHPT" EXACT ABBREVIATION [MONDO:Lexical, OMIM:239200, Orphanet:417] synonym: "Nsph" RELATED [OMIM:239200] xref: MESH:C563375 {source="MONDO:equivalentTo"} xref: NCIT:C131853 {source="MONDO:equivalentTo"} xref: OMIM:239200 {source="MONDO:equivalentTo", source="Orphanet:417", source="Orphanet:417/e"} xref: Orphanet:417 {source="OMIM:239200", source="MONDO:equivalentTo"} xref: SCTID:715218009 {source="MONDO:equivalentTo"} xref: UMLS:C1832615 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:417", source="NCIT:C131853"} is_a: EFO:0003820 ! bone neoplasm is_a: MONDO:0016365 ! familial primary hyperparathyroidism is_a: MONDO:0023603 ! hereditary disorder of connective tissue is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder property_value: exactMatch http://identifiers.org/mesh/C563375 property_value: exactMatch http://identifiers.org/snomedct/715218009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832615 property_value: exactMatch https://omim.org/entry/239200 property_value: exactMatch NCIT:C131853 property_value: exactMatch Orphanet:417 property_value: excluded_subClassOf MONDO:0019705 {source="Orphanet:417"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0009400 name: hyperprolinemia type 1 def: "Hyperprolinaemia type I is an inborn error of proline metabolism characterized by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2)." [Orphanet:419] subset: ordo_disease {source="Orphanet:419"} synonym: "HPI" RELATED ABBREVIATION [OMIM:239500] synonym: "hyperprolinemia caused by mutation in PRODH" EXACT [MONDO:design_pattern] synonym: "hyperprolinemia type 1" EXACT [] synonym: "hyperprolinemia, type 1" RELATED [OMIM:239500] synonym: "hyperprolinemia, type I" RELATED [MONDO:Lexical, OMIM:239500] synonym: "HYRPRO1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:239500] synonym: "PRODH hyperprolinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "proline oxidase deficiency" EXACT [Orphanet:419] xref: DOID:0080542 {source="MONDO:equivalentTo"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10058513 {source="Orphanet:419", source="Orphanet:419/e"} xref: OMIM:239500 {source="MONDO:equivalentTo", source="Orphanet:419", source="Orphanet:419/e"} xref: Orphanet:419 {source="OMIM:239500", source="MONDO:equivalentTo"} xref: SCTID:61071003 {source="MONDO:equivalentTo"} is_a: MONDO:0023419 {source="MONDO:Redundant", source="MONDO:cjm"} ! hyperprolinemia property_value: closeMatch http://identifiers.org/meddra/10058513 property_value: exactMatch DOID:0080542 property_value: exactMatch http://identifiers.org/snomedct/61071003 property_value: exactMatch https://omim.org/entry/239500 property_value: exactMatch Orphanet:419 [Term] id: MONDO:0009401 name: hyperprolinemia type 2 def: "Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay." [Orphanet:79101] subset: gard_rare {source="GARD:0006710"} subset: ordo_disease {source="Orphanet:79101"} synonym: "1 alpha pyrroline-5-carboxylate dehydrogenase deficiency" RELATED [GARD:0006710] synonym: "1-pyrroline-5-carboxylate dehydrogenase deficiency" RELATED [OMIM:239510] synonym: "ALDH4A1 hyperprolinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "delta1-pyrroline-5-carboxylate dehydrogenase deficiency" EXACT [Orphanet:79101] synonym: "HPII" RELATED ABBREVIATION [OMIM:239510] synonym: "hyperprolinemia caused by mutation in ALDH4A1" EXACT [MONDO:design_pattern] synonym: "hyperprolinemia type 2" EXACT [] synonym: "hyperprolinemia, type 2" RELATED [OMIM:239510] synonym: "hyperprolinemia, type II" RELATED [MONDO:Lexical, OMIM:239510] synonym: "HYRPRO2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:239510] synonym: "type 2 hyperprolinemia" RELATED [GARD:0006710] xref: DOID:0080543 {source="MONDO:equivalentTo"} xref: MedDRA:10058512 {source="Orphanet:79101/e", source="Orphanet:79101"} xref: MedDRA:10058514 {source="Orphanet:79101/e", source="Orphanet:79101"} xref: MESH:C538385 {source="Orphanet:79101/e", source="MONDO:equivalentTo", source="Orphanet:79101"} xref: OMIM:239510 {source="Orphanet:79101/e", source="MONDO:equivalentTo", source="Orphanet:79101"} xref: Orphanet:79101 {source="OMIM:239510", source="MONDO:equivalentTo"} xref: SCTID:717181004 {source="MONDO:equivalentTo"} xref: UMLS:C2931835 {source="OMIM:239510", source="Orphanet:79101/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:79101"} is_a: MONDO:0023419 {source="MONDO:Redundant", source="MONDO:cjm"} ! hyperprolinemia property_value: closeMatch http://identifiers.org/meddra/10058512 property_value: closeMatch http://identifiers.org/meddra/10058514 property_value: exactMatch DOID:0080543 property_value: exactMatch http://identifiers.org/mesh/C538385 property_value: exactMatch http://identifiers.org/snomedct/717181004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931835 property_value: exactMatch https://omim.org/entry/239510 property_value: exactMatch Orphanet:79101 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6710/hyperprolinemia-type-2 xsd:anyURI {source="GARD:0006710"} [Term] id: MONDO:0009402 name: acrofrontofacionasal dysostosis 2 def: "A very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies." [Orphanet:2211] subset: ordo_malformation_syndrome {source="Orphanet:2211"} synonym: "acrofrontofacionasal dysostosis 2" EXACT [OMIM:239710] synonym: "acrofrontofacionasal dysostosis type 2" EXACT [MONDORULE:1, OMIM:239710, Orphanet:2211] synonym: "acrofrontofacionasal dysostosis with genitourinary anomalies" RELATED [OMIM:239710] synonym: "acrofrontofacionasal dysostosis, severe" RELATED [GARD:0000287] synonym: "acrofrontofacionasal syndrome type 2" EXACT [Orphanet:2211] synonym: "AFFN dysostosis 2" RELATED [OMIM:239710] synonym: "hypertelorism hypospadias polysyndactyly syndrome" RELATED [GARD:0000287] synonym: "hypertelorism, hypospadias, and polysyndactyly syndrome" RELATED [OMIM:239710] synonym: "hypertelorism-hypospadias-polysyndactyly syndrome" EXACT [Orphanet:2211] synonym: "Naguib syndrome" RELATED [GARD:0000287] synonym: "Naguib-Richieri-Costa syndrome" EXACT [OMIM:239710, Orphanet:2211] xref: MESH:C538332 {source="MONDO:equivalentTo"} xref: OMIM:239710 {source="Orphanet:2211", source="MONDO:equivalentTo", source="Orphanet:2211/e"} xref: Orphanet:2211 {source="OMIM:239710", source="MONDO:equivalentTo"} xref: SCTID:721835008 {source="MONDO:equivalentTo"} is_a: MONDO:0008715 {source="DC-OMIM:239710"} ! acrofrontofacionasal dysostosis is_a: MONDO:0015161 {source="Orphanet:2211"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015620 {source="Orphanet:2211"} ! syndromic urogenital tract malformation property_value: exactMatch http://identifiers.org/mesh/C538332 property_value: exactMatch http://identifiers.org/snomedct/721835008 property_value: exactMatch https://omim.org/entry/239710 property_value: exactMatch Orphanet:2211 [Term] id: MONDO:0009404 name: hypertelorism, microtia, facial clefting syndrome def: "Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia." [Orphanet:2213] subset: ordo_malformation_syndrome {source="Orphanet:2213"} synonym: "Bixler Christian Gorlin syndrome" EXACT [DOID:14670] synonym: "Bixler syndrome" EXACT [DOID:14670] synonym: "Bixler-Christian-Gorlin syndrome" EXACT [DOID:14670, Orphanet:2213] synonym: "HMC syndrome" EXACT [DOID:14670, OMIM:239800, Orphanet:2213] synonym: "hypertelorism microtia facial clefting syndrome" RELATED [GARD:0000897] synonym: "hypertelorism, microtia, facial clefting syndrome" EXACT [OMIM:239800] synonym: "hypertelorism-microtia-clefting syndrome" EXACT [DOID:14670] synonym: "hypertelorism-microtia-facial clefting syndrome" EXACT [DOID:14670] xref: DOID:14670 {source="MONDO:equivalentTo"} xref: MESH:C537632 {source="DOID:14670", source="MONDO:equivalentTo"} xref: OMIM:239800 {source="Orphanet:2213", source="DOID:14670", source="MONDO:equivalentTo", source="Orphanet:2213/e"} xref: Orphanet:2213 {source="MONDO:equivalentTo", source="OMIM:239800"} xref: SCTID:721836009 {source="MONDO:equivalentTo"} xref: UMLS:C0220742 {source="Orphanet:2213", source="DOID:14670", source="MONDO:equivalentTo", source="OMIM:239800", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2213/e"} is_a: EFO:1000017 {source="DOID:14670", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015159 {source="Orphanet:2213"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015334 {source="Orphanet:2213"} ! branchial arch or oral-acral syndrome property_value: exactMatch DOID:14670 property_value: exactMatch http://identifiers.org/mesh/C537632 property_value: exactMatch http://identifiers.org/snomedct/721836009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220742 property_value: exactMatch https://omim.org/entry/239800 property_value: exactMatch Orphanet:2213 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2213"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0009405 name: cervical hypertrichosis-peripheral neuropathy syndrome def: "Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993." [Orphanet:2218] subset: gard_rare subset: ordo_disease {source="Orphanet:2218"} synonym: "cervical hypertrichosis peripheral neuropathy" RELATED [GARD:0001226] synonym: "hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy" RELATED [GARD:0001226, OMIM:239840] xref: MESH:C565492 {source="MONDO:equivalentTo"} xref: OMIM:239840 {source="MONDO:equivalentTo", source="GARD:0001226", source="Orphanet:2218", source="Orphanet:2218/e"} xref: Orphanet:2218 {source="OMIM:239840", source="MONDO:equivalentTo", source="GARD:0001226"} xref: UMLS:C1855902 {source="OMIM:239840", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2218"} xref: UMLS:C2931676 {source="MONDO:equivalentTo", source="Orphanet:2218", source="Orphanet:2218/e"} is_a: MONDO:0019280 {source="MESH:C565492", source="Orphanet:2218"} ! hypertrichosis is_a: MONDO:0020022 ! central nervous system malformation relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation property_value: exactMatch http://identifiers.org/mesh/C565492 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855902 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931676 property_value: exactMatch https://omim.org/entry/239840 property_value: exactMatch Orphanet:2218 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1226/cervical-hypertrichosis-peripheral-neuropathy xsd:anyURI {source="GARD:0001226"} [Term] id: MONDO:0009406 name: hypertrichotic osteochondrodysplasia Cantu type def: "Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism." [Orphanet:1517] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1517"} synonym: "Cantu syndrome" EXACT [DOID:0060569, OMIM:239850] synonym: "Craniofaciocardioskeletal syndrome" RELATED [GARD:0008585] synonym: "hypertrichotic osteochondrodysplasia" RELATED [GARD:0008585, OMIM:239850] synonym: "hypertrichotic osteochondrodysplasia (Cantu syndrome)" EXACT [OMIM:239850, OMIM:genemap2] synonym: "hypertrichotic osteochondrodysplasia, Cantu type" RELATED [Orphanet:1517] xref: DOID:0060569 {source="MONDO:equivalentTo"} xref: MESH:C535572 {source="Orphanet:1517/e", source="MONDO:equivalentTo", source="DOID:0060569", source="Orphanet:1517"} xref: OMIM:239850 {source="Orphanet:1517/e", source="MONDO:equivalentTo", source="DOID:0060569", source="GARD:0008585", source="Orphanet:1517"} xref: Orphanet:1517 {source="OMIM:239850", source="MONDO:equivalentTo", source="GARD:0008585"} xref: SCTID:239087008 {source="MONDO:equivalentTo"} xref: UMLS:C0795905 {source="OMIM:239850", source="Orphanet:1517/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1517"} is_a: EFO:0005571 {source="DOID:0060569", source="MESH:C535572"} ! osteochondrodysplasia is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDO:indirect"} ! syndromic disease is_a: MONDO:0015160 {source="Orphanet:1517"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0018454 {source="MONDO:0019710-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin relationship: disease_has_feature MONDO:0019280 {source="MONDO:Wikidata"} ! hypertrichosis property_value: exactMatch DOID:0060569 property_value: exactMatch http://identifiers.org/mesh/C535572 property_value: exactMatch http://identifiers.org/snomedct/239087008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795905 property_value: exactMatch https://omim.org/entry/239850 property_value: exactMatch Orphanet:1517 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8585/cantu-syndrome xsd:anyURI {source="GARD:0008585"} [Term] id: MONDO:0009410 name: obsolete Addison disease property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1218 xsd:anyURI is_obsolete: true replaced_by: MONDO:0015129 [Term] id: MONDO:0009411 name: autoimmune polyendocrine syndrome type 1 def: "Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." [Orphanet:3453] subset: gard_rare subset: ordo_disease {source="Orphanet:3453"} synonym: "AIRE autoimmune polyendocrinopathy" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "aire autoimmune polyendocrinopathy" EXACT [MONDO:design_pattern] synonym: "APECED syndrome" EXACT [Orphanet:3453] synonym: "APS 1" RELATED [OMIM:240300] synonym: "APS type 1" EXACT [Orphanet:3453] synonym: "APS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:240300, Orphanet:3453] synonym: "autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome" EXACT [Orphanet:3453] synonym: "autoimmune polyendocrine syndrome type 1" EXACT [Orphanet:3453] synonym: "autoimmune polyendocrine syndrome, type I, with or without reversible metaphyseal dysplasia" RELATED [MONDO:Lexical, OMIM:240300] synonym: "autoimmune polyendocrinopathy caused by mutation in AIRE" EXACT [] synonym: "autoimmune polyendocrinopathy caused by mutation in aire" EXACT [MONDO:design_pattern] synonym: "autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia" EXACT [OMIM:240300, OMIM:genemap2] synonym: "autoimmune polyendocrinopathy syndrome type 1" RELATED [GARD:0008466] synonym: "autoimmune polyendocrinopathy syndrome, type I, autosomal dominant" RELATED [OMIM:240300] synonym: "autoimmune polyendocrinopathy type 1" RELATED [Orphanet:3453] synonym: "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy" EXACT [DOID:0050167, OMIM:240300] synonym: "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)" RELATED [GARD:0008466] synonym: "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome" EXACT [Orphanet:3453] synonym: "autoimmune polyglandular syndrome I" EXACT [DOID:0050167] synonym: "autoimmune polyglandular syndrome type 1" EXACT [Orphanet:3453] synonym: "autoimmune polyglandular syndrome, type 1" RELATED [OMIM:240300] synonym: "ham syndrome" EXACT [Orphanet:3453] synonym: "hypoadrenocorticism with hypoparathyroidism and superficial Moniliasis" RELATED [OMIM:240300] synonym: "hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome" EXACT [Orphanet:3453] synonym: "MEDAC syndrome" EXACT [Orphanet:3453] synonym: "multiple endocrine deficiency-Addison disease-candidiasis syndrome" EXACT [Orphanet:3453] synonym: "PGA 1" RELATED [OMIM:240300] synonym: "polyglandular autoimmune syndrome type 1" EXACT [NCIT:C129727] synonym: "polyglandular autoimmune syndrome, type 1" RELATED [OMIM:240300] synonym: "polyglandular deficiency syndrome, Persian-Jewish type" RELATED [OMIM:240300] synonym: "Whitaker syndrom" EXACT [DOID:0050167] synonym: "Whitaker syndrome" RELATED [GTR:AN0156902] xref: DOID:0050167 {source="MONDO:equivalentTo"} xref: ICD9:258.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C129727 {source="MONDO:equivalentTo"} xref: OMIM:240300 {source="Orphanet:3453", source="DOID:0050167", source="MONDO:equivalentTo", source="Orphanet:3453/e"} xref: Orphanet:3453 {source="MONDO:equivalentTo", source="OMIM:240300"} xref: SCTID:11244009 {source="MONDO:equivalentTo"} xref: UMLS:C0085859 {source="Orphanet:3453", source="GARD:0005558", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C129727", source="OMIM:240300"} is_a: EFO:0005539 {source="MONDO:Entailed", source="Orphanet:3453", source="Orphanet:3453/inferred"} ! adrenal gland disease is_a: MONDO:0016165 {source="Orphanet:3453"} ! hereditary hypoparathyroidism is_a: MONDO:0017278 {source="DC-OMIM:240300", source="DOID:0050167", source="MONDO:Redundant", source="NCIT:C129727", source="Orphanet:3453"} ! autoimmune polyendocrinopathy is_a: MONDO:0018242 ! autoimmune hypoparathyroidism property_value: exactMatch DOID:0050167 property_value: exactMatch http://identifiers.org/snomedct/11244009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085859 property_value: exactMatch https://omim.org/entry/240300 property_value: exactMatch NCIT:C129727 property_value: exactMatch Orphanet:3453 property_value: excluded_subClassOf MONDO:0015130 {source="Orphanet:3453"} property_value: excluded_subClassOf MONDO:0019851 {source="Orphanet:3453"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009413 name: immunodeficiency, common variable, 2 synonym: "antibody deficiency due to TACI defect" RELATED [OMIM:240500] synonym: "CVID2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:240500] synonym: "hypogammaglobulinemia due to TACI deficiency" RELATED [OMIM:240500] synonym: "immunodeficiency, common variable, 2" EXACT [MONDO:Lexical, OMIM:240500] synonym: "immunodeficiency, common variable, type 2" EXACT [MONDORULE:1, OMIM:240500] xref: DOID:0081145 {source="MONDO:equivalentTo"} xref: OMIM:240500 {source="MONDO:equivalentTo"} xref: UMLS:C3150354 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:240500"} is_a: MONDO:0015517 {source="DC-OMIM:240500", source="OMIM:240500"} ! common variable immunodeficiency property_value: exactMatch DOID:0081145 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150354 property_value: exactMatch https://omim.org/entry/240500 [Term] id: MONDO:0009414 name: glycogen storage disorder due to hepatic glycogen synthase deficiency def: "Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves." [Orphanet:2089] subset: ordo_disease {source="Orphanet:2089"} synonym: "glycogen storage disease 0, liver" RELATED [MONDO:Lexical, OMIM:240600] synonym: "glycogen storage disease due to glycogen synthase deficiency of liver" EXACT [MONDO:design_pattern] synonym: "glycogen storage disease due to hepatic glycogen synthase deficiency" EXACT [] synonym: "glycogen storage disease due to liver glycogen synthase deficiency" EXACT [Orphanet:2089] synonym: "glycogen storage disease type 0" RELATED [] synonym: "glycogen storage disease type 0, liver" RELATED [GARD:0002513] synonym: "glycogen storage disease type 0a" EXACT [Orphanet:2089] synonym: "glycogen synthase deficiency" EXACT [] synonym: "glycogenosis type 0a" EXACT [Orphanet:2089] synonym: "GSD 0A" RELATED [OMIM:240600] synonym: "GSD due to hepatic glycogen synthase deficiency" EXACT [Orphanet:2089] synonym: "GSD type 0a" EXACT [Orphanet:2089] synonym: "GSD0A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:240600] synonym: "hepatic glycogen synthase deficiency" RELATED [GARD:0002513] synonym: "hypoglycemia with deficiency of glycogen synthetase in the liver" RELATED [GARD:0002889, OMIM:240600] synonym: "liver glycogen storage disease 0" RELATED [OMIM:240600] synonym: "liver glycogen storage disease due to glycogen synthase deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "liver glycogen synthase deficiency" RELATED [OMIM:240600] synonym: "liver GSD 0" RELATED [GARD:0002513] xref: MESH:C565485 {source="MONDO:equivalentTo"} xref: OMIM:240600 {source="Orphanet:2089", source="MONDO:equivalentTo", source="Orphanet:2089/e"} xref: Orphanet:2089 {source="MONDO:equivalentTo", source="OMIM:240600"} xref: SCTID:237964009 {source="MONDO:equivalentTo"} xref: UMLS:C0342748 {source="MONDO:equivalentTo"} xref: UMLS:C1855861 {source="Orphanet:2089", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:240600"} is_a: MONDO:0002412 {source="MONDO:Redundant", source="Orphanet:2089", source="PMID:33340416"} ! disorder of glycogen metabolism property_value: exactMatch http://identifiers.org/mesh/C565485 property_value: exactMatch http://identifiers.org/snomedct/237964009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342748 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855861 property_value: exactMatch https://omim.org/entry/240600 property_value: exactMatch Orphanet:2089 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0009416 name: hypoinsulinemic hypoglycemia and body hemihypertrophy subset: ordo_disease {source="Orphanet:293964"} synonym: "HIHGHH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:240900] synonym: "hypoinsulinemic hypoglycemia with hemihypertrophy" RELATED [MONDO:Lexical, OMIM:240900] xref: DOID:0112263 {source="MONDO:equivalentTo"} xref: OMIM:240900 {source="Orphanet:293964/e", source="MONDO:equivalentTo", source="Orphanet:293964"} xref: Orphanet:293964 {source="OMIM:240900", source="MONDO:equivalentTo"} xref: UMLS:CN203155 {source="MONDO:equivalentTo"} is_a: EFO:0001379 {source="Orphanet:293964"} ! endocrine system disease is_a: MONDO:0019716 {source="Orphanet:293964"} ! overgrowth syndrome property_value: exactMatch DOID:0112263 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203155 property_value: exactMatch https://omim.org/entry/240900 property_value: exactMatch Orphanet:293964 [Term] id: MONDO:0009417 name: hypergonadotropic hypogonadism-cataract syndrome def: "This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family." [Orphanet:2410] subset: ordo_malformation_syndrome {source="Orphanet:2410"} synonym: "cataracts and testicular failure" RELATED [OMIM:240950] synonym: "hypogonadism cataract syndrome" RELATED [GARD:0000298] synonym: "hypogonadism-cataract syndrome" RELATED [OMIM:240950] synonym: "Lubinsky syndrome" EXACT [Orphanet:2410] xref: MESH:C543092 {source="MONDO:equivalentTo"} xref: OMIM:240950 {source="Orphanet:2410", source="MONDO:equivalentTo", source="Orphanet:2410/e"} xref: Orphanet:2410 {source="MONDO:equivalentTo", source="OMIM:240950"} xref: SCTID:721233005 {source="MONDO:equivalentTo"} xref: UMLS:C1855859 {source="Orphanet:2410", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:240950"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015906"} ! rare property_value: exactMatch http://identifiers.org/mesh/C543092 property_value: exactMatch http://identifiers.org/snomedct/721233005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855859 property_value: exactMatch https://omim.org/entry/240950 property_value: exactMatch Orphanet:2410 [Term] id: MONDO:0009419 name: Woodhouse-Sakati syndrome def: "Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." [Orphanet:3464] subset: gard_rare {source="GARD:0005592"} subset: ordo_disease {source="Orphanet:3464"} synonym: "diabetes-hypogonadism-deafness-intellectual disability syndrome" EXACT [Orphanet:3464] synonym: "extrapyramidal disorder, progressive, with primary hypogonadism, intellectual disability, and alopecia" RELATED [OMIM:241080] synonym: "extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia" RELATED DEPRECATED [OMIM:241080] synonym: "hypogonadism, alopecia, diabetes mellitus, intellectual disability, deafness, and extrapyramidal syndrome" RELATED [OMIM:241080] synonym: "hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome" RELATED DEPRECATED [OMIM:241080] synonym: "hypogonadism, diabetes mellitus, alopecia, intellectual disability, and electrocardiographic abnormalities" RELATED [GARD:0005592] synonym: "hypogonadism, diabetes mellitus, alopecia, mental retardation, and electrocardiographic abnormalities" RELATED DEPRECATED [GARD:0005592] synonym: "woodhouse Sakati syndrome" RELATED [GARD:0005592] synonym: "Woodhouse-Sakati syndrome" EXACT [] synonym: "woodhouse-Sakati syndrome" EXACT [OMIM:241080] xref: DOID:0112264 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536742 {source="Orphanet:3464", source="MONDO:equivalentTo", source="Orphanet:3464/e"} xref: OMIM:241080 {source="Orphanet:3464", source="MONDO:equivalentTo", source="Orphanet:3464/e"} xref: Orphanet:3464 {source="OMIM:241080", source="MONDO:equivalentTo"} xref: SCTID:237616002 {source="MONDO:equivalentTo"} xref: UMLS:C0342286 {source="Orphanet:3464", source="OMIM:241080", source="MONDO:equivalentTo", source="Orphanet:3464/e", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism is_a: MONDO:0018307 {source="Orphanet:3464"} ! neurodegeneration with brain iron accumulation is_a: MONDO:0044807 {source="MONDO:0018265-obsoleted"} ! inherited dystonia property_value: exactMatch DOID:0112264 property_value: exactMatch http://identifiers.org/mesh/C536742 property_value: exactMatch http://identifiers.org/snomedct/237616002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342286 property_value: exactMatch https://omim.org/entry/241080 property_value: exactMatch Orphanet:3464 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:3464"} property_value: excluded_subClassOf MONDO:0005015 {source="MONDO:0015888-obsoleted", source="MONDO:Redundant", source="Orphanet:3464"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5723 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5592/woodhouse-sakati-syndrome xsd:anyURI {source="GARD:0005592"} [Term] id: MONDO:0009420 name: primary hypergonadotropic hypogonadism-partial alopecia syndrome def: "This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia." [Orphanet:2232] subset: ordo_disease {source="Orphanet:2232"} synonym: "Al Awadi-Farag-Teebi syndrome" EXACT [Orphanet:2232] synonym: "hypergonadotropic hypogonadism and partial alopecia" RELATED [OMIM:241090] xref: ICD10CM:E28.3 {source="Orphanet:2232", source="MONDO:relatedTo", source="Orphanet:2232/attributed", source="Orphanet:2232/btnt"} xref: MESH:C567109 {source="MONDO:equivalentTo"} xref: OMIM:241090 {source="Orphanet:2232", source="MONDO:equivalentTo", source="Orphanet:2232/e"} xref: Orphanet:2232 {source="MONDO:equivalentTo", source="OMIM:241090"} xref: SCTID:719275009 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015906"} ! rare property_value: exactMatch http://identifiers.org/mesh/C567109 property_value: exactMatch http://identifiers.org/snomedct/719275009 property_value: exactMatch https://omim.org/entry/241090 property_value: exactMatch Orphanet:2232 [Term] id: MONDO:0009425 name: hypomandibular faciocranial dysostosis def: "Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis." [Orphanet:1790] subset: gard_rare {source="GARD:0002907"} subset: ordo_malformation_syndrome {source="Orphanet:1790"} synonym: "hypomandibular faciocranial dysostosis" EXACT [OMIM:241310] xref: MESH:C537154 {source="Orphanet:1790/e", source="MONDO:equivalentTo", source="Orphanet:1790"} xref: OMIM:241310 {source="Orphanet:1790/e", source="MONDO:equivalentTo", source="Orphanet:1790"} xref: Orphanet:1790 {source="MONDO:equivalentTo", source="OMIM:241310"} xref: SCTID:721845005 {source="MONDO:equivalentTo"} is_a: MONDO:0015160 {source="Orphanet:1790"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0020018 {source="Orphanet:1790"} ! cranial malformation relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C537154 property_value: exactMatch http://identifiers.org/snomedct/721845005 property_value: exactMatch https://omim.org/entry/241310 property_value: exactMatch Orphanet:1790 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2907/hypomandibular-faciocranial-dysostosis xsd:anyURI {source="GARD:0002907"} [Term] id: MONDO:0009426 name: hypoparathyroidism-retardation-dysmorphism syndrome def: "Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features." [Orphanet:2323] subset: ordo_malformation_syndrome {source="Orphanet:2323"} synonym: "HRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:241410] synonym: "HRD syndrome" EXACT [DOID:0060348, Orphanet:2323] synonym: "HRDS" EXACT ABBREVIATION [NCIT:C133727] synonym: "hypoparathyroidism with short stature, intellectual disability and seizures" EXACT [DOID:0060348, GARD:0000411] synonym: "hypoparathyroidism with short stature, intellectual disability, and seizures" RELATED [OMIM:241410] synonym: "hypoparathyroidism with short stature, mental retardation and seizures" EXACT DEPRECATED [DOID:0060348] synonym: "hypoparathyroidism with short stature, mental retardation, and seizures" RELATED DEPRECATED [OMIM:241410] synonym: "hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay" RELATED [GARD:0000411] synonym: "hypoparathyroidism, congenital, associated with Dysmorphism, Growth retardation, and developmental delay" RELATED [OMIM:241410] synonym: "hypoparathyroidism-intellectual disability-dysmorphism syndrome" EXACT [Orphanet:2323] synonym: "hypoparathyroidism-retardation-dysmorphism syndrome" EXACT [MONDO:Lexical, OMIM:241410] synonym: "hypoparathyroidism-short stature-intellectual disability-seizures syndrome" EXACT [Orphanet:2323] synonym: "Richardson-Kirk syndrome" EXACT [Orphanet:2323] synonym: "Sanjad-Sakati syndrome" EXACT [DOID:0060348, OMIM:241410] synonym: "SSS" EXACT ABBREVIATION [Orphanet:2323] xref: DOID:0060348 {source="MONDO:equivalentTo"} xref: MESH:C537157 {source="MONDO:equivalentTo", source="DOID:0060348"} xref: NCIT:C133727 {source="MONDO:equivalentTo"} xref: OMIM:241410 {source="Orphanet:2323", source="MONDO:equivalentTo", source="DOID:0060348", source="Orphanet:2323/e"} xref: Orphanet:2323 {source="MONDO:equivalentTo", source="DOID:0060348", source="OMIM:241410"} xref: UMLS:C1855840 {source="NCIT:C133727", source="Orphanet:2323", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:0060348", source="OMIM:241410", source="Orphanet:2323/e"} is_a: EFO:1000017 {source="DOID:0060348", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C133727"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:2323"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder property_value: exactMatch DOID:0060348 property_value: exactMatch http://identifiers.org/mesh/C537157 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855840 property_value: exactMatch https://omim.org/entry/241410 property_value: exactMatch NCIT:C133727 property_value: exactMatch Orphanet:2323 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2323"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0009427 name: obsolete infantile hypophosphatasia def: "OBSOLETE. Infantile hypophosphatasia (I-HPP) is a very rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization." [Orphanet:247651] subset: ordo_clinical_subtype {source="Orphanet:247651"} synonym: "HOPS" EXACT ABBREVIATION [DOID:0110914, OMIM:241500] synonym: "hypophosphatasia, infantile" RELATED [OMIM:241500] synonym: "hypophosphatasia, perinatal lethal" RELATED [OMIM:241500] synonym: "infantile phosphoethanolaminuria" EXACT [Orphanet:247651] synonym: "infantile Rathburn disease" EXACT [Orphanet:247651] synonym: "obsolete infantile hypophosphatasia" EXACT [] xref: DOID:0110914 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="Orphanet:247651/attributed", source="Orphanet:247651/ntbt", source="Orphanet:247651"} xref: OMIM:241500 {source="MONDO:obsoleteEquivalent", source="Orphanet:247651/e", source="DOID:0110914", source="Orphanet:247651"} xref: Orphanet:247651 {source="MONDO:obsoleteEquivalent", source="DOID:0110914", source="OMIM:241500"} xref: SCTID:55236002 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0268412 {source="MONDO:obsoleteEquivalent", source="Orphanet:247651/e", source="MONDO:ncbi_mim2gene_medline", source="OMIM:241500", source="Orphanet:247651"} property_value: exactMatch DOID:0110914 property_value: exactMatch http://identifiers.org/snomedct/55236002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268412 property_value: exactMatch https://omim.org/entry/241500 property_value: exactMatch Orphanet:247651 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2906 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI is_obsolete: true consider: MONDO:0600009 consider: MONDO:0600010 consider: MONDO:0600011 [Term] id: MONDO:0009428 name: obsolete childhood hypophosphatasia def: "OBSOLETE. Childhood-onset hypophosphatasia is a rare, mildform of hypophosphatasia characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures,skeletal deformities,and rickets with short stature and waddling gait." [Orphanet:247667] subset: gard_rare {source="GARD:0008735"} subset: ordo_clinical_subtype {source="Orphanet:247667"} synonym: "childhood-onset hypophosphatasia" RELATED [GARD:0008735] synonym: "childhood-onset phosphoethanolaminuria" EXACT [Orphanet:247667] synonym: "childhood-onset Rathburn disease" EXACT [Orphanet:247667] synonym: "hypophosphatasia of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "hypophosphatasia, childhood" RELATED [OMIM:241510] synonym: "obsolete childhood hypophosphatasia" EXACT [] synonym: "pediatric hypophosphatasia" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] xref: DOID:0110915 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E83.3 {source="Orphanet:247667/attributed", source="Orphanet:247667/ntbt", source="MONDO:relatedTo", source="Orphanet:247667"} xref: MESH:C562440 {source="MONDO:obsoleteEquivalent"} xref: OMIM:241510 {source="MONDO:obsoleteEquivalent", source="Orphanet:247667", source="DOID:0110915", source="Orphanet:247667/e"} xref: Orphanet:247667 {source="MONDO:obsoleteEquivalent", source="DOID:0110915", source="OMIM:241510"} xref: SCTID:30174008 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0220743 {source="MONDO:obsoleteEquivalent", source="Orphanet:247667", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:247667/e", source="OMIM:241510"} property_value: exactMatch DOID:0110915 property_value: exactMatch http://identifiers.org/mesh/C562440 property_value: exactMatch http://identifiers.org/snomedct/30174008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220743 property_value: exactMatch https://omim.org/entry/241510 property_value: exactMatch Orphanet:247667 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2906 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8735/childhood-hypophosphatasia xsd:anyURI {source="GARD:0008735"} is_obsolete: true consider: MONDO:0600009 consider: MONDO:0600010 consider: MONDO:0600011 [Term] id: MONDO:0009431 name: hereditary hypophosphatemic rickets with hypercalciuria def: "Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia." [Orphanet:157215] subset: ordo_disease {source="Orphanet:157215"} synonym: "HHRH" EXACT ABBREVIATION [MONDO:Lexical, OMIM:241530, Orphanet:157215] synonym: "hypercalciuric hypophosphatemic rickets" EXACT [NCIT:C131450] synonym: "hypercalciuric rickets" RELATED [OMIM:241530] synonym: "hypophosphatemic hypercalciuric rickets" EXACT [NCIT:C131450] synonym: "hypophosphatemic rickets with hypercalciuria" EXACT [OMIM:241530, OMIM:genemap2] synonym: "hypophosphatemic rickets with hypercalciuria, hereditary" RELATED [MONDO:Lexical, OMIM:241530] xref: DOID:0050947 {source="MONDO:equivalentTo"} xref: ICD10CM:E83.3 {source="Orphanet:157215/attributed", source="Orphanet:157215/ntbt", source="MONDO:relatedTo", source="Orphanet:157215"} xref: MESH:C562793 {source="MONDO:equivalentTo"} xref: NCIT:C131450 {source="MONDO:equivalentTo"} xref: OMIM:241530 {source="Orphanet:157215", source="MONDO:equivalentTo", source="Orphanet:157215/e", source="DOID:0050947"} xref: Orphanet:157215 {source="MONDO:equivalentTo", source="OMIM:241530"} xref: SCTID:237891005 {source="MONDO:equivalentTo"} xref: UMLS:C1853271 {source="Orphanet:157215", source="MONDO:equivalentTo", source="NCIT:C131450"} is_a: MONDO:0000044 {source="NCIT:C131450", source="Orphanet:157215"} ! hereditary hypophosphatemic rickets is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder property_value: exactMatch DOID:0050947 property_value: exactMatch http://identifiers.org/mesh/C562793 property_value: exactMatch http://identifiers.org/snomedct/237891005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853271 property_value: exactMatch https://omim.org/entry/241530 property_value: exactMatch NCIT:C131450 property_value: exactMatch Orphanet:157215 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0009435 name: hypospadias-intellectual disability, Goldblatt type syndrome def: "Hypospasdias B intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails." [Orphanet:2261] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2261"} synonym: "Goldblatt Wallis syndrome" RELATED [GARD:0002928] synonym: "Goldblatt-Wallis syndrome" EXACT [Orphanet:2261] synonym: "hypospadias intellectual deficit Goldblatt type" RELATED [GARD:0002928] synonym: "hypospadias intellectual disability Goldblatt type" RELATED [GARD:0002928] synonym: "hypospadias intellectual disability syndrome" RELATED [GARD:0002928] synonym: "hypospadias mental retardation Goldblatt type" RELATED DEPRECATED [GARD:0002928] synonym: "hypospadias mental retardation syndrome" RELATED DEPRECATED [GARD:0002928] synonym: "hypospadias-intellectual disability syndrome" RELATED [OMIM:241760] synonym: "hypospadias-mental retardation syndrome" RELATED DEPRECATED [OMIM:241760] xref: MESH:C563067 {source="MONDO:equivalentTo"} xref: OMIM:241760 {source="Orphanet:2261/e", source="MONDO:equivalentTo", source="Orphanet:2261", source="GARD:0002928"} xref: Orphanet:2261 {source="MONDO:equivalentTo", source="OMIM:241760", source="GARD:0002928"} xref: SCTID:716096005 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:2261"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015620 {source="Orphanet:2261"} ! syndromic urogenital tract malformation property_value: exactMatch http://identifiers.org/mesh/C563067 property_value: exactMatch http://identifiers.org/snomedct/716096005 property_value: exactMatch https://omim.org/entry/241760 property_value: exactMatch Orphanet:2261 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2261"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2928/hypospadias-mental-retardation-goldblatt-type xsd:anyURI {source="GARD:0002928"} [Term] id: MONDO:0009436 name: congenital hypothalamic hamartoma syndrome def: "Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas. Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty. Additional symptoms may include cognitive impairment; emotional and behavioral difficulties; and endocrine disturbances. These symptoms often start early in life but are frequently misdiagnosed. For some patients, endocrine (hormonal) disturbances such as central precocious puberty may be the only symptom. These patients can often be treated successfully with medications. For some, however, HH can be disabling. For those with HH and epilepsy, it is common for the disorder to progress and for different types of seizures to develop. The seizures associated with HH often cannot be well-controlled with the standard seizure medications. For some, additional treatment such as surgical removal, radiosurgery, or thermoablation may be indicated. Though hypothalamic hamartomas can occur in patients with certain genetic disorders (such as Pallister-Hall syndrome), the majority of cases are sporadic." [https://rarediseases.info.nih.gov/diseases/2934/hypothalamic-hamartomas] subset: gard_rare {source="GARD:0002934"} synonym: "congenital hypothalamic hamartoma syndrome" EXACT [OMIM:241800] synonym: "hamartoma of hypothalamus" EXACT [NCIT:C4385] synonym: "hamartoma of the hypothalamus" RELATED [GARD:0002934] synonym: "hypothalamic hamartoma" EXACT [NCIT:C4385] synonym: "hypothalamic hamartomas" EXACT [OMIM:241800] synonym: "Pallister-Hall-like syndrome" EXACT [OMIM:241800, OMIM:genemap2] xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537158 {source="MONDO:equivalentTo"} xref: NCIT:C4385 {source="MONDO:equivalentTo"} xref: OMIM:241800 {source="MONDO:equivalentTo"} xref: Orphanet:2113 {source="OMIM:241800", source="MONDO:equivalentObsolete"} xref: SCTID:237714006 {source="MONDO:equivalentTo"} is_a: MONDO:0007804 ! Pallister-Hall syndrome property_value: exactMatch http://identifiers.org/mesh/C537158 property_value: exactMatch http://identifiers.org/snomedct/237714006 property_value: exactMatch https://omim.org/entry/241800 property_value: exactMatch NCIT:C4385 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2934/hypothalamic-hamartomas xsd:anyURI {source="GARD:0002934"} [Term] id: MONDO:0009437 name: Bamforth-Lazarus syndrome def: "Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases." [Orphanet:1226] subset: ordo_malformation_syndrome {source="Orphanet:1226"} synonym: "Athyroidal hypothyroidism-spiky hair-cleft palate syndrome" EXACT [Orphanet:1226] synonym: "Bamforth syndrome" EXACT [Orphanet:1226] synonym: "Bamforth-Lazarus syndrome" EXACT [OMIM:241850] synonym: "hypothyroidism cleft palate hypothyroidism, athyroidal, with spiky hair and cleft palate" RELATED [GARD:0000414] synonym: "hypothyroidism, ATHYROIDAL, with spiky hair and cleft palate" EXACT [DOID:0050655] synonym: "hypothyroidism, thyroidal or ATHYROIDAL, with spiky hair and cleft palate" RELATED [OMIM:241850] synonym: "hypothyroidism-cleft palate syndrome" EXACT [Orphanet:1226] xref: DOID:0050655 {source="MONDO:equivalentTo"} xref: MESH:C537901 {source="MONDO:equivalentTo", source="Orphanet:1226", source="Orphanet:1226/e"} xref: OMIM:241850 {source="MONDO:equivalentTo", source="Orphanet:1226", source="DOID:0050655", source="Orphanet:1226/e"} xref: Orphanet:1226 {source="MONDO:equivalentTo", source="OMIM:241850"} xref: SCTID:722375007 {source="MONDO:equivalentTo"} is_a: MONDO:0015778 {source="Orphanet:1226"} ! syndromic hypothyroidism property_value: exactMatch DOID:0050655 property_value: exactMatch http://identifiers.org/mesh/C537901 property_value: exactMatch http://identifiers.org/snomedct/722375007 property_value: exactMatch https://omim.org/entry/241850 property_value: exactMatch Orphanet:1226 [Term] id: MONDO:0009440 name: ichthyosiform erythroderma, corneal involvement, and hearing loss synonym: "Desmons syndrome" RELATED [OMIM:242150] synonym: "ichthyosiform erythroderma, corneal involvement, and deafness" NARROW [OMIM:242150] synonym: "ichthyosiform erythroderma, corneal involvement, deafness" RELATED [GARD:0002946] synonym: "keratitis-ichthyosis-deafness syndrome, autosomal recessive" RELATED [OMIM:242150] synonym: "KID syndrome, autosomal recessive" RELATED [OMIM:242150] xref: MESH:C537363 {source="MONDO:equivalentTo"} xref: OMIM:242150 {source="MONDO:equivalentTo"} xref: SCTID:403780007 {source="MONDO:equivalentTo"} xref: UMLS:C1275089 {source="OMIM:242150", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018781 {source="Orphanet:477/btnt"} ! KID syndrome property_value: exactMatch http://identifiers.org/mesh/C537363 property_value: exactMatch http://identifiers.org/snomedct/403780007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275089 property_value: exactMatch https://omim.org/entry/242150 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/551 xsd:anyURI [Term] id: MONDO:0009443 name: autosomal recessive congenital ichthyosis 4B def: "Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma." [Orphanet:457] subset: ordo_disease {source="Orphanet:457"} synonym: "'Harlequin fetus'" RELATED [OMIM:242500] synonym: "ARCI4B" EXACT ABBREVIATION [DOID:0060713, MONDO:Lexical, OMIM:242500] synonym: "autosomal recessive congenital ichthyosis type 4B" EXACT [DOID:0060713, MONDORULE:4] synonym: "Harlequin fetus" RELATED [GARD:0006568] synonym: "Harlequin foetus" RELATED OMO:0003005 [] synonym: "harlequin ichthyosis" EXACT [DOID:0060713] synonym: "harlequin type ichthyosis congenita" EXACT [DOID:0060713] synonym: "harlequin type ichthyosis fetalis" EXACT [DOID:0060713] synonym: "hi" EXACT [Orphanet:457] synonym: "ichthyosis , congenital, autosomal recessive 4b (harlequin)" EXACT [OMIM:242500, OMIM:genemap2] synonym: "ichthyosis congenita, Harlequin fetus type" RELATED [OMIM:242500] synonym: "ichthyosis congenita, Harlequin foetus type" RELATED OMO:0003005 [] synonym: "ichthyosis congenita, Harlequin type" EXACT [Orphanet:457] synonym: "ichthyosis fetalis, Harlequin type" EXACT [Orphanet:457] synonym: "ichthyosis, congenital, autosomal recessive 4B" RELATED [MONDO:Lexical, OMIM:242500] synonym: "ichthyosis, congenital, autosomal recessive type 4B" EXACT [MONDORULE:4, OMIM:242500] xref: DOID:0060713 {source="MONDO:equivalentTo"} xref: MedDRA:10019163 {source="Orphanet:457", source="Orphanet:457/e"} xref: NCIT:C98934 {source="MONDO:equivalentTo"} xref: OMIM:242500 {source="Orphanet:457", source="MONDO:equivalentTo", source="Orphanet:457/e", source="DOID:0060713"} xref: Orphanet:457 {source="MONDO:equivalentTo", source="DOID:0060713", source="OMIM:242500"} xref: SCTID:205548006 {source="MONDO:equivalentTo"} xref: UMLS:C0239849 {source="NCIT:C98934", source="Orphanet:457", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:457/e", source="OMIM:242500"} is_a: MONDO:0011026 ! autosomal recessive congenital ichthyosis 4A property_value: closeMatch http://identifiers.org/meddra/10019163 property_value: exactMatch DOID:0060713 property_value: exactMatch http://identifiers.org/snomedct/205548006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0239849 property_value: exactMatch https://omim.org/entry/242500 property_value: exactMatch NCIT:C98934 property_value: exactMatch Orphanet:457 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009444 name: ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome def: "Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987." [Orphanet:2269] subset: ordo_disease {source="Orphanet:2269"} synonym: "ichthyosis alopecia eclabion ectropion intellectual disability" RELATED [GARD:0000292] synonym: "ichthyosis alopecia eclabion ectropion mental retardation" RELATED DEPRECATED [GARD:0000292] synonym: "ichthyosis with alopecia, eclabium, ectropion, and intellectual disability" RELATED [OMIM:242510] synonym: "ichthyosis with alopecia, eclabium, ectropion, and mental retardation" RELATED DEPRECATED [OMIM:242510] synonym: "Jagell Holmgren Hofer syndrome" RELATED [GARD:0000292] synonym: "Jagell-Holmgren-Hofer syndrome" EXACT [Orphanet:2269] xref: MESH:C537364 {source="MONDO:equivalentTo"} xref: OMIM:242510 {source="Orphanet:2269", source="MONDO:equivalentTo", source="Orphanet:2269/e"} xref: Orphanet:2269 {source="MONDO:equivalentTo", source="OMIM:242510"} xref: UMLS:C1855788 {source="Orphanet:2269", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:242510", source="Orphanet:2269/e"} is_a: MONDO:0017270 ! autosomal ichthyosis syndrome is_a: MONDO:0019287 {source="Orphanet:2269"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C537364 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855788 property_value: exactMatch https://omim.org/entry/242510 property_value: exactMatch Orphanet:2269 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:2269"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0009445 name: ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome def: "Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterized by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked." [Orphanet:2274] subset: ordo_disease {source="Orphanet:2274"} synonym: "Dykes Markes Harper syndrome" RELATED [GARD:0001993] synonym: "Dykes-Markes-Harper syndrome" EXACT [Orphanet:2274] synonym: "Dykes-Marks-Harper syndrome" EXACT [Orphanet:2274] synonym: "ichthyosis, hepatosplenomegaly, and cerebellar degeneration" RELATED [OMIM:242520] xref: ICD9:571.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535727 {source="MONDO:equivalentTo"} xref: OMIM:242520 {source="Orphanet:2274/e", source="MONDO:equivalentTo", source="Orphanet:2274"} xref: Orphanet:2274 {source="MONDO:equivalentTo", source="OMIM:242520"} xref: SCTID:403779009 {source="MONDO:equivalentTo"} xref: UMLS:C1275088 {source="Orphanet:2274/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:242520", source="Orphanet:2274"} is_a: EFO:0009671 {source="Orphanet:2274"} ! hereditary ataxia is_a: MONDO:0017270 ! autosomal ichthyosis syndrome property_value: exactMatch http://identifiers.org/mesh/C535727 property_value: exactMatch http://identifiers.org/snomedct/403779009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275088 property_value: exactMatch https://omim.org/entry/242520 property_value: exactMatch Orphanet:2274 [Term] id: MONDO:0009446 name: ichthyosis-intellectual disability-dwarfism-renal impairment syndrome def: "Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterized by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive." [Orphanet:2278] subset: ordo_malformation_syndrome {source="Orphanet:2278"} synonym: "ichthyosis intellectual deficit dwarfism renal impairment" RELATED [GARD:0004641] synonym: "ichthyosis, intellectual disability, dwarfism and renal impairment" RELATED [GARD:0004641] synonym: "ichthyosis, intellectual disability, dwarfism, and renal impairment" RELATED [OMIM:242530] synonym: "ichthyosis, mental retardation, dwarfism and renal impairment" RELATED DEPRECATED [GARD:0004641] synonym: "ichthyosis, mental retardation, dwarfism, and renal impairment" RELATED DEPRECATED [OMIM:242530] synonym: "Passwell-Goodman-Siprkowski syndrome" EXACT [Orphanet:2278] xref: MESH:C536274 {source="Orphanet:2278", source="MONDO:equivalentTo", source="Orphanet:2278/e"} xref: OMIM:242530 {source="Orphanet:2278", source="MONDO:equivalentTo", source="Orphanet:2278/e"} xref: Orphanet:2278 {source="MONDO:equivalentTo", source="OMIM:242530"} xref: UMLS:C1855787 {source="Orphanet:2278", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:242530", source="Orphanet:2278/e"} is_a: MONDO:0017270 ! autosomal ichthyosis syndrome property_value: exactMatch http://identifiers.org/mesh/C536274 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855787 property_value: exactMatch https://omim.org/entry/242530 property_value: exactMatch Orphanet:2278 [Term] id: MONDO:0009448 name: iminoglycinuria def: "A metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait." [Orphanet:42062] subset: gard_rare {source="GARD:0008424"} subset: ordo_disease {source="Orphanet:42062"} synonym: "iminoglycinuria" EXACT [OMIM:242600] synonym: "iminoglycinuria, digenic" EXACT [OMIM:242600, OMIM:genemap2] xref: DOID:0112265 {source="MONDO:equivalentTo"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536285 {source="Orphanet:42062/e", source="MONDO:equivalentTo", source="Orphanet:42062"} xref: OMIM:242600 {source="Orphanet:42062/e", source="MONDO:equivalentTo", source="Orphanet:42062"} xref: Orphanet:42062 {source="MONDO:equivalentTo", source="OMIM:242600"} xref: SCTID:84121007 {source="MONDO:equivalentTo"} xref: UMLS:C0268654 {source="Orphanet:42062/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:42062", source="OMIM:242600"} is_a: MONDO:0019216 {source="Orphanet:42062", source="PMID:33340416"} ! inborn disorder of amino acid transport property_value: exactMatch DOID:0112265 property_value: exactMatch http://identifiers.org/mesh/C536285 property_value: exactMatch http://identifiers.org/snomedct/84121007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268654 property_value: exactMatch https://omim.org/entry/242600 property_value: exactMatch Orphanet:42062 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8424/iminoglycinuria xsd:anyURI {source="GARD:0008424"} [Term] id: MONDO:0009451 name: Nezelof syndrome subset: ordo_disease {source="Orphanet:83471"} synonym: "immune defect due to absence Of Thymus" RELATED [MESH:C536288] synonym: "immune defect due to absence of THYMUS" RELATED [OMIM:242700] synonym: "Nezelof syndrome" EXACT [OMIM:242700, Orphanet:83471] synonym: "Nezelof's syndrome" EXACT [DOID:2012, ICD9CM:279.13] synonym: "T-lymphocyte deficiency" EXACT [DOID:2012, OMIM:242700] synonym: "thymic aplasia" RELATED [OMIM:242700] xref: DOID:2012 {source="MONDO:equivalentTo"} xref: ICD9:279.13 {source="DOID:2012"} xref: MESH:C536288 {source="DOID:2012", source="MONDO:equivalentTo"} xref: OMIM:242700 {source="DOID:2012", source="Orphanet:83471/e", source="MONDO:equivalentTo", source="Orphanet:83471"} xref: Orphanet:83471 {source="MONDO:equivalentTo", source="OMIM:242700"} xref: SCTID:55602000 {source="DOID:2012", source="MONDO:equivalentTo"} xref: UMLS:CN206066 {source="MONDO:equivalentTo"} is_a: MONDO:0001222 {source="DOID:2012"} ! congenital T-cell immunodeficiency is_a: MONDO:0015823 ! primary immunodeficiency due to a defect in adaptive immunity property_value: exactMatch DOID:2012 property_value: exactMatch http://identifiers.org/mesh/C536288 property_value: exactMatch http://identifiers.org/snomedct/55602000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206066 property_value: exactMatch https://omim.org/entry/242700 property_value: exactMatch Orphanet:83471 [Term] id: MONDO:0009452 name: Vici syndrome def: "A very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." [Orphanet:1493] subset: gard_rare {source="GARD:0000448"} subset: ordo_malformation_syndrome {source="Orphanet:1493"} synonym: "absent corpus callosum cataract immunodeficiency" RELATED [GARD:0000448] synonym: "absent corpus callosum-cataract-immunodeficiency syndrome" EXACT [Orphanet:1493] synonym: "corpus callosum agenesis-cataract-immunodeficiency syndrome" EXACT [Orphanet:1493] synonym: "Dionisi Vici Sabetta Gambarara syndrome" RELATED [GARD:0000448] synonym: "Dionisi-Vici-Sabetta-Gambarara syndrome" EXACT [Orphanet:1493] synonym: "immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum" RELATED [GARD:0000448] synonym: "immunodeficiency with cleft Lip/palate, cataract, hypopigmentation, and absent corpus callosum" RELATED [OMIM:242840] synonym: "immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum" EXACT [DOID:0060356] synonym: "Vici syndrome" EXACT [MONDO:Lexical, OMIM:242840] synonym: "VICIS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:242840] xref: DOID:0060356 {source="MONDO:equivalentTo"} xref: MESH:C535566 {source="DOID:0060356", source="MONDO:equivalentTo"} xref: NCIT:C138174 {source="MONDO:equivalentTo"} xref: OMIM:242840 {source="DOID:0060356", source="Orphanet:1493/e", source="MONDO:equivalentTo", source="Orphanet:1493"} xref: Orphanet:1493 {source="DOID:0060356", source="MONDO:equivalentTo", source="OMIM:242840"} xref: SCTID:719824001 {source="MONDO:equivalentTo"} xref: UMLS:C1855772 {source="DOID:0060356", source="Orphanet:1493/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:242840", source="Orphanet:1493"} is_a: EFO:1000017 {source="DOID:0060356", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C138174"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:1493"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015823 ! primary immunodeficiency due to a defect in adaptive immunity property_value: exactMatch DOID:0060356 property_value: exactMatch http://identifiers.org/mesh/C535566 property_value: exactMatch http://identifiers.org/snomedct/719824001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855772 property_value: exactMatch https://omim.org/entry/242840 property_value: exactMatch NCIT:C138174 property_value: exactMatch Orphanet:1493 property_value: excluded_subClassOf MONDO:0016337 {source="Orphanet:1493"} property_value: excluded_subClassOf MONDO:0019290 {source="Orphanet:1493"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5682 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/448/vici-syndrome xsd:anyURI {source="GARD:0000448"} [Term] id: MONDO:0009453 name: immune deficiency disease synonym: "immune deficiency disease" EXACT [OMIM:242850] xref: MESH:C565469 {source="MONDO:equivalentTo"} xref: OMIM:242850 {source="MONDO:equivalentTo"} xref: UMLS:C1855771 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:242850"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: EFO:0000540 {source="https://orcid.org/0000-0001-5208-3432"} ! immune system disease property_value: exactMatch http://identifiers.org/mesh/C565469 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855771 property_value: exactMatch https://omim.org/entry/242850 property_value: excluded_subClassOf MONDO:0003778 {source="DC-OMIM:242850", source="MESH:C565469"} [Term] id: MONDO:0009458 name: Schimke immuno-osseous dysplasia def: "A multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." [https://orcid.org/0000-0001-5208-3432, Orphanet:1830] subset: clingen subset: ordo_disease {source="Orphanet:1830"} synonym: "immunoosseous dysplasia Schimke type" EXACT [DOID:0060490] synonym: "IMMUNOOSSEOUS dysplasia, Schimke type" RELATED [OMIM:242900] synonym: "Schimke immuno-osseous dysplasia" EXACT [] synonym: "Schimke IMMUNOOSSEOUS dysplasia" RELATED [OMIM:242900] synonym: "Schimke Immunoosseous dysplasia" RELATED [OMIM:242900] synonym: "Schimke immunoosseous dysplasia" EXACT [DOID:0060490] synonym: "Schimke syndrome" EXACT [DOID:0060490, Orphanet:1830] synonym: "SIOD" RELATED ABBREVIATION [GARD:0004984, OMIM:242900] synonym: "spondyloepiphyseal dysplasia - nephrotic syndrome" EXACT [DOID:0060490] synonym: "spondyloepiphyseal dysplasia nephrotic syndrome" RELATED [GARD:0004984] synonym: "spondyloepiphyseal dysplasia-nephrotic syndrome" EXACT [Orphanet:1830] xref: DOID:0060490 {source="MONDO:equivalentTo"} xref: MedDRA:10048699 {source="Orphanet:1830", source="Orphanet:1830/e"} xref: MESH:C536629 {source="MONDO:equivalentTo", source="Orphanet:1830", source="DOID:0060490", source="Orphanet:1830/e"} xref: NCIT:C135087 {source="MONDO:equivalentTo"} xref: OMIM:242900 {source="MONDO:equivalentTo", source="Orphanet:1830", source="DOID:0060490", source="Orphanet:1830/e"} xref: Orphanet:1830 {source="OMIM:242900", source="MONDO:equivalentTo", source="DOID:0060490"} xref: SCTID:723995003 {source="MONDO:equivalentTo"} xref: UMLS:C0877024 {source="OMIM:242900", source="NCIT:C135087", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1830", source="DOID:0060490", source="Orphanet:1830/e"} is_a: MONDO:0015708 {source="Orphanet:1830"} ! immuno-osseous dysplasia is_a: MONDO:0016761 {source="DOID:0060490", source="Orphanet:1830", source="PMID:31633310"} ! spondyloepiphyseal dysplasia property_value: closeMatch http://identifiers.org/meddra/10048699 property_value: exactMatch DOID:0060490 property_value: exactMatch http://identifiers.org/mesh/C536629 property_value: exactMatch http://identifiers.org/snomedct/723995003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0877024 property_value: exactMatch https://omim.org/entry/242900 property_value: exactMatch NCIT:C135087 property_value: exactMatch Orphanet:1830 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0009459 name: channelopathy-associated congenital insensitivity to pain, autosomal recessive def: "A syndrome characterized by indifference to pain despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and intellectual disability may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343)" [MESH:D000699] subset: ordo_disease {source="Orphanet:88642"} synonym: "asymbolia for pain" RELATED [OMIM:243000] synonym: "channelopathy-associated CIP" EXACT [Orphanet:88642] synonym: "CIP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:243000] synonym: "congenital analgesia, autosomal recessive" RELATED [OMIM:243000] synonym: "HSAN2D" RELATED ABBREVIATION [OMIM:243000] synonym: "HSAN2D, AR" RELATED [OMIM:243000] synonym: "indifference to pain, congenital, autosomal recessive" RELATED [MONDO:Lexical, OMIM:243000] synonym: "insensitivity to pain, channelopathy-associated" RELATED [OMIM:243000] synonym: "insensitivity to pain, congenital" EXACT [OMIM:243000, OMIM:genemap2] synonym: "neuropathy, hereditary sensory and autonomic, type 2D" RELATED [OMIM:243000] synonym: "neuropathy, hereditary sensory and autonomic, type IID" EXACT [OMIM:243000, OMIM:genemap2] xref: OMIM:243000 {source="Orphanet:88642", source="MONDO:equivalentTo", source="Orphanet:88642/e"} xref: Orphanet:88642 {source="MONDO:equivalentTo", source="OMIM:243000"} xref: UMLS:C1855739 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:243000"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015366 {source="Orphanet:88642"} ! autosomal recessive hereditary sensory and autonomic neuropathy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855739 property_value: exactMatch https://omim.org/entry/243000 property_value: exactMatch Orphanet:88642 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009461 name: spermatogenic failure 5 def: "Male infertility due to large-headed multiflagellar polypoid spermatozoa is a male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy)." [Orphanet:137893] subset: ordo_clinical_subtype {source="Orphanet:137893"} synonym: "infertility associated with multi-tailed spermatozoa and excessive DNA" RELATED [OMIM:243060] synonym: "infertility associated with multitailed spermatozoa and excessive DNA" RELATED [OMIM:243060] synonym: "macrocephalic sperm head syndrome" EXACT [Orphanet:137893] synonym: "macrozoospermia" RELATED [GARD:0012385] synonym: "male infertility due to large-headed multiflagellar polyploid spermatozoa" EXACT [Orphanet:137893] synonym: "male infertility due to macrozoospermia" EXACT [Orphanet:137893] synonym: "male infertility with large-headed, multiflagellar, polyploid spermatozoa" EXACT [OMIM:243060] synonym: "spermatogenic failure 5" EXACT [MONDO:Lexical, OMIM:243060] synonym: "spermatogenic failure type 5" EXACT [MONDORULE:1, OMIM:243060] synonym: "SPGF5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:243060] xref: DOID:0070183 {source="MONDO:equivalentTo"} xref: MESH:C562903 {source="MONDO:equivalentTo"} xref: OMIM:243060 {source="Orphanet:137893/e", source="MONDO:equivalentTo", source="Orphanet:137893"} xref: Orphanet:137893 {source="OMIM:243060", source="MONDO:equivalentTo"} xref: SCTID:236806004 {source="MONDO:equivalentTo"} xref: UMLS:C0403812 {source="OMIM:243060", source="Orphanet:137893/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:137893"} is_a: EFO:0000279 {source="DC-OMIM:243060", source="OMIM:243060"} ! azoospermia is_a: MONDO:0018394 {source="Orphanet:137893"} ! male infertility with teratozoospermia due to single gene mutation property_value: exactMatch DOID:0070183 property_value: exactMatch http://identifiers.org/mesh/C562903 property_value: exactMatch http://identifiers.org/snomedct/236806004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0403812 property_value: exactMatch https://omim.org/entry/243060 property_value: exactMatch Orphanet:137893 [Term] id: MONDO:0009465 name: multiple intestinal atresia def: "A rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns." [https://rarediseases.info.nih.gov/diseases/3013/intestinal-atresia-multiple] subset: gard_rare {source="GARD:0003013"} subset: ordo_disease {source="Orphanet:436252"} subset: ordo_morphological_anomaly {source="Orphanet:2300"} synonym: "CID-MIA/early-onset IBD" RELATED [Orphanet:436252] synonym: "combined immunodeficiency-enteropathy spectrum" RELATED [Orphanet:436252] synonym: "familial intestinal polyatresia syndrome" RELATED [OMIM:243150, Orphanet:2300] synonym: "gastrointestinal defects and immunodeficiency syndrome" RELATED [MONDO:Lexical, OMIM:243150] synonym: "GIDID" RELATED ABBREVIATION [MONDO:Lexical, OMIM:243150] synonym: "intestinal atresia multiple" RELATED [GARD:0003013] synonym: "intestinal atresia, multiple" RELATED [OMIM:243150] synonym: "intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency" RELATED [OMIM:243150] synonym: "multiple gastrointestinal atresias" EXACT [DOID:14671] synonym: "multiple intestinal atresia" EXACT [] xref: DOID:14671 {source="MONDO:equivalentTo"} xref: ICD9:751.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10028210 {source="Orphanet:2300", source="Orphanet:2300/e"} xref: MESH:C562441 {source="MONDO:equivalentTo", source="DOID:14671"} xref: Orphanet:2300 {source="OMIM:243150", source="MONDO:equivalentTo"} xref: Orphanet:436252 {source="MONDO:relatedTo"} xref: SCTID:95472001 {source="MONDO:equivalentTo", source="DOID:14671"} is_a: EFO:1000017 {source="DOID:14671", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015211 {source="Orphanet:2300"} ! non-syndromic intestinal malformation is_a: MONDO:0015823 ! primary immunodeficiency due to a defect in adaptive immunity property_value: closeMatch http://identifiers.org/meddra/10028210 property_value: exactMatch DOID:14671 property_value: exactMatch http://identifiers.org/mesh/C562441 property_value: exactMatch http://identifiers.org/snomedct/95472001 property_value: exactMatch Orphanet:2300 property_value: excluded_subClassOf MONDO:0015212 {source="Orphanet:436252"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3013/intestinal-atresia-multiple xsd:anyURI {source="GARD:0003013"} [Term] id: MONDO:0009467 name: natal teeth-intestinal pseudoobstruction-patent ductus syndrome subset: ordo_malformation_syndrome {source="Orphanet:1654"} synonym: "intestinal pseudoobstruction with patent ductus arteriosus and NATAL teeth" RELATED [OMIM:243185] synonym: "Natal teeth, intestinal pseudoobstruction and patent ductus" RELATED [GARD:0003928] xref: MESH:C538341 {source="MONDO:equivalentTo"} xref: OMIM:243185 {source="MONDO:equivalentTo", source="Orphanet:1654", source="Orphanet:1654/e"} xref: Orphanet:1654 {source="MONDO:equivalentObsolete", source="OMIM:243185"} xref: UMLS:C1855732 {source="OMIM:243185", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1654", source="Orphanet:1654/e"} is_a: MONDO:0021147 {source="Orphanet:1654", source="Orphanet:1654/inferred"} ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C538341 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855732 property_value: exactMatch https://omim.org/entry/243185 [Term] id: MONDO:0009469 name: benign recurrent intrahepatic cholestasis type 1 def: "Benign recurrent intrahepatic cholestasis 1 (BRIC1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. These episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years.Most people with BRIC1have their first episode of cholestasisintheir teens or twenties. Symptoms oftenpresent with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. BRIC1 is caused by mutations in the ATP8B1 gene. This condition is inherited in an autosomal recessive pattern.BRIC1generally does not cause lasting damage to the liver. However, in rare cases, episodes of liver dysfunction may develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity." [GARD:0010028] subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:99960"} synonym: "ATP8B1 benign recurrent intrahepatic cholestasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "benign recurrent intrahepatic cholestasis 1" RELATED [GARD:0010028] synonym: "benign recurrent intrahepatic cholestasis caused by mutation in ATP8B1" EXACT [MONDO:design_pattern] synonym: "Bric type 1" EXACT [Orphanet:99960] synonym: "BRIC1" EXACT ABBREVIATION [GARD:0010028, MONDO:Lexical, OMIM:243300, Orphanet:99960] synonym: "cholestasis, benign recurrent intrahepatic" BROAD [OMIM:243300, OMIM:genemap2] synonym: "cholestasis, benign recurrent intrahepatic 1" RELATED [GARD:0010028] synonym: "cholestasis, benign recurrent intrahepatic, 1" RELATED [MONDO:Lexical, OMIM:243300] synonym: "cholestasis, benign recurrent intrahepatic, type 1" EXACT [MONDORULE:1, OMIM:243300] synonym: "mild ATP8B1 deficiency" RELATED [GARD:0010028] synonym: "recurrent familial intrahepatic cholestasis 1" RELATED [GARD:0010028] synonym: "Summerskill syndrome" RELATED [GARD:0010028, OMIM:243300] xref: DOID:0070231 {source="MONDO:equivalentTo"} xref: OMIM:243300 {source="Orphanet:99960/e", source="MONDO:equivalentTo", source="GARD:0010028", source="Orphanet:99960"} xref: Orphanet:99960 {source="MONDO:equivalentTo", source="OMIM:243300"} is_a: MONDO:0015762 ! progressive familial intrahepatic cholestasis is_a: MONDO:0019008 {source="MONDO:Redundant", source="OMIM:243300", source="Orphanet:99960"} ! benign recurrent intrahepatic cholestasis property_value: exactMatch DOID:0070231 property_value: exactMatch https://omim.org/entry/243300 property_value: exactMatch Orphanet:99960 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10028/benign-recurrent-intrahepatic-cholestasis-1 xsd:anyURI {source="GARD:0010028"} [Term] id: MONDO:0009473 name: isotretinoin-like syndrome def: "Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy." [Orphanet:2306] subset: ordo_malformation_syndrome {source="Orphanet:2306"} synonym: "Isotretinoin embryopathy like syndrome" RELATED [GARD:0009675] synonym: "ISOTRETINOIN embryopathy-like syndrome" RELATED [OMIM:243440] synonym: "Kawashima syndrome" EXACT [Orphanet:2306] synonym: "microtia aortic arch syndrome" RELATED [GARD:0009675] synonym: "microtia-aortic Arch syndrome" RELATED [OMIM:243440] synonym: "microtia-aortic arch syndrome" EXACT [Orphanet:2306] synonym: "syndrome of microtia and aortic arch anomalies" RELATED [GARD:0009675] xref: MESH:C535542 {source="MONDO:equivalentTo"} xref: OMIM:243440 {source="MONDO:equivalentTo", source="Orphanet:2306", source="Orphanet:2306/e"} xref: Orphanet:2306 {source="MONDO:equivalentTo", source="OMIM:243440"} xref: SCTID:722006004 {source="MONDO:equivalentTo"} is_a: MONDO:0015160 {source="Orphanet:2306"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C535542 property_value: exactMatch http://identifiers.org/snomedct/722006004 property_value: exactMatch https://omim.org/entry/243440 property_value: exactMatch Orphanet:2306 [Term] id: MONDO:0009475 name: isovaleric acidemia def: "Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported." [Orphanet:33] subset: gard_rare {source="GARD:0000465"} subset: ordo_disease {source="Orphanet:33"} synonym: "isovaleric acid CoA dehydrogenase deficiency" EXACT [DOID:14753, Orphanet:33] synonym: "isovaleric acid Coa dehydrogenase deficiency" RELATED [OMIM:243500] synonym: "isovaleric acidemia" EXACT [MONDO:Lexical, OMIM:243500] synonym: "isovaleric aciduria" EXACT [DOID:14753] synonym: "Isovalericacidemia" EXACT [NCIT:C98964] synonym: "isovaleryl CoA carboxylase deficiency" RELATED [GARD:0000465] synonym: "isovaleryl-CoA dehydrogenase deficiency" EXACT [NCIT:C98964] synonym: "IVA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:243500] synonym: "IVD deficiency" RELATED [OMIM:243500] xref: DOID:14753 {source="MONDO:equivalentTo"} xref: ICD10CM:E71.110 {source="MONDO:equivalentTo", source="DOID:14753"} xref: MESH:C538167 {source="Orphanet:33", source="MONDO:equivalentTo", source="Orphanet:33/e", source="DOID:14753"} xref: NCIT:C98964 {source="MONDO:equivalentTo", source="DOID:14753"} xref: OMIM:243500 {source="Orphanet:33", source="MONDO:equivalentTo", source="Orphanet:33/e", source="DOID:14753"} xref: Orphanet:33 {source="MONDO:equivalentTo", source="OMIM:243500"} xref: SCTID:87827003 {source="MONDO:equivalentTo", source="DOID:14753"} xref: UMLS:C0268575 {source="Orphanet:33", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:33/e", source="OMIM:243500", source="DOID:14753", source="NCIT:C98964"} is_a: MONDO:0019215 {source="Orphanet:33"} ! classic organic aciduria property_value: exactMatch DOID:14753 property_value: exactMatch http://identifiers.org/mesh/C538167 property_value: exactMatch http://identifiers.org/snomedct/87827003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268575 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E71.110 property_value: exactMatch https://omim.org/entry/243500 property_value: exactMatch NCIT:C98964 property_value: exactMatch Orphanet:33 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/465/isovaleric-acidemia xsd:anyURI {source="GARD:0000465"} [Term] id: MONDO:0009476 name: atresia of small intestine def: "Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis. The most important cause of mortality is short bowel syndrome, encountered in 65% of cases." [Orphanet:1201] subset: gard_rare subset: ordo_morphological_anomaly {source="Orphanet:1201"} synonym: "apple peel small bowel syndrome" RELATED [OMIM:243600] synonym: "apple peel syndrome" EXACT [Orphanet:1201] synonym: "apple-peel intestinal atresia" RELATED [GARD:0006799] synonym: "APSB" RELATED ABBREVIATION [GARD:0006799] synonym: "atresia of the small intestine" EXACT [NCIT:C98828] synonym: "congenital atresia of the small intestine" RELATED [GARD:0000140] synonym: "congenital small intestine atresia" EXACT [NCIT:C98828] synonym: "familial apple peel jejunal atresia" RELATED [GARD:0006799] synonym: "intestinal atresia type IIIb" EXACT [Orphanet:1201] synonym: "jejunal atresia" EXACT [Orphanet:1201] synonym: "Jejunoileal atresia" EXACT [GARD:0000140, Orphanet:1201] synonym: "small intestinal atresia" EXACT [Orphanet:1201] synonym: "small intestine atresia" EXACT [GARD:0000140, NCIT:C98828] xref: MedDRA:10010626 {source="Orphanet:1201", source="Orphanet:1201/e"} xref: MESH:C538260 {source="Orphanet:1201", source="MONDO:equivalentTo", source="Orphanet:1201/e"} xref: NCIT:C98828 {source="MONDO:equivalentTo"} xref: OMIM:243600 {source="Orphanet:1201", source="MONDO:equivalentTo", source="Orphanet:1201/e"} xref: Orphanet:1201 {source="MONDO:equivalentTo", source="OMIM:243600", source="GARD:0000140"} xref: UMLS:C0021828 {source="MONDO:relatedTo", source="Orphanet:1201"} xref: UMLS:C0266172 {source="NCIT:C98828", source="Orphanet:1201", source="MONDO:equivalentTo", source="Orphanet:1201/e", source="GARD:0000140"} is_a: MONDO:0015211 {source="Orphanet:1201"} ! non-syndromic intestinal malformation is_a: MONDO:0018241 {source="Orphanet:1201"} ! primary short bowel syndrome property_value: closeMatch http://identifiers.org/meddra/10010626 property_value: exactMatch http://identifiers.org/mesh/C538260 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266172 property_value: exactMatch https://omim.org/entry/243600 property_value: exactMatch NCIT:C98828 property_value: exactMatch Orphanet:1201 [Term] id: MONDO:0009478 name: combined immunodeficiency due to DOCK8 deficiency def: "Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE)." [Orphanet:217390] subset: gard_rare subset: ordo_disease {source="Orphanet:217390"} synonym: "AR hyperimmunoglobulin E syndrome" RELATED [GARD:0002816] synonym: "AR-HIES" RELATED [GARD:0002816] synonym: "autosomal recessive hyper IgE syndrome" RELATED [GARD:0002816] synonym: "Cid due to DOCK8 deficiency" EXACT [Orphanet:217390] synonym: "combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency" EXACT [Orphanet:217390] synonym: "combined immunodeficiency due to DOCK8 deficiency" EXACT [] synonym: "dedicator of cytokinesis 8 deficiency" EXACT [NCIT:C126343] synonym: "DOCK8 deficiency" RELATED [GARD:0002816] synonym: "DOCK8 immunodeficiency syndrome" EXACT [Orphanet:217390] synonym: "HIES autosomal recessive" RELATED [GARD:0002816] synonym: "HIES, autosomal recessive" RELATED [OMIM:243700] synonym: "hyper Ig E syndrome, autosomal recessive" RELATED [GARD:0002816] synonym: "hyper-IgE recurrent infection syndrome, autosomal recessive" RELATED [OMIM:243700] synonym: "hyper-IgE syndrome, autosomal recessive" RELATED [OMIM:243700] synonym: "hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive" RELATED [GARD:0002816] xref: DOID:0080594 {source="MONDO:equivalentTo"} xref: NCIT:C126343 {source="MONDO:equivalentTo"} xref: OMIM:243700 {source="Orphanet:217390", source="MONDO:equivalentTo", source="Orphanet:217390/e", source="GARD:0002816"} xref: Orphanet:217390 {source="MONDO:equivalentTo", source="OMIM:243700"} xref: UMLS:C1968689 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:243700", source="GARD:0002816"} is_a: MONDO:0018037 {source="OMIM:243700"} ! hyper-IgE syndrome property_value: exactMatch DOID:0080594 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1968689 property_value: exactMatch https://omim.org/entry/243700 property_value: exactMatch NCIT:C126343 property_value: exactMatch Orphanet:217390 property_value: excluded_subClassOf MONDO:0018814 {source="Orphanet:217390"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2816/autosomal-recessive-hyper-ige-syndrome xsd:anyURI {source="GARD:0002816"} [Term] id: MONDO:0009479 name: Johanson-Blizzard syndrome def: "A multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability." [Orphanet:2315] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2315"} synonym: "JBS" EXACT ABBREVIATION [Orphanet:2315] synonym: "Johanson-BLIZZARD syndrome" RELATED [OMIM:243800] synonym: "Johanson-Blizzard syndrome" EXACT [MONDO:Lexical, OMIM:243800] synonym: "nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness" RELATED [GARD:0000080] synonym: "nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness" RELATED [OMIM:243800] synonym: "pancreatic insufficiency, combined exocrine" EXACT [OMIM:260450] xref: DOID:14694 {source="MONDO:equivalentTo"} xref: EFO:0001063 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535880 {source="MONDO:equivalentTo", source="Orphanet:2315", source="DOID:14694", source="Orphanet:2315/e"} xref: MESH:C564907 {source="MONDO:equivalentTo"} xref: OMIM:243800 {source="MONDO:equivalentTo", source="Orphanet:2315", source="DOID:14694", source="GARD:0000080", source="Orphanet:2315/e", source="EFO:0001063"} xref: OMIM:260450 {source="MONDO:equivalentObsolete"} xref: Orphanet:2315 {source="MONDO:equivalentTo", source="GARD:0000080", source="OMIM:243800"} xref: SCTID:75979009 {source="MONDO:equivalentTo", source="DOID:14694"} xref: UMLS:C0175692 {source="MONDO:equivalentTo", source="Orphanet:2315", source="MONDO:ncbi_mim2gene_medline", source="DOID:14694", source="Orphanet:2315/e", source="OMIM:243800"} xref: UMLS:C1850081 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:260450"} is_a: EFO:0004238 {source="EFO:0001063", source="MESH:C535880/inferred", source="MONDO:Redundant"} ! hearing loss is_a: EFO:1000017 {source="DOID:14694", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:2315"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0037940 ! inherited auditory system disease property_value: exactMatch DOID:14694 property_value: exactMatch http://identifiers.org/mesh/C535880 property_value: exactMatch http://identifiers.org/mesh/C564907 property_value: exactMatch http://identifiers.org/snomedct/75979009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0175692 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850081 property_value: exactMatch https://omim.org/entry/243800 property_value: exactMatch Orphanet:2315 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2315"} property_value: excluded_subClassOf MONDO:0015246 {source="Orphanet:2315"} property_value: excluded_subClassOf MONDO:0015778 {source="Orphanet:2315"} property_value: excluded_subClassOf MONDO:0018762 property_value: excluded_subClassOf MONDO:0019287 {source="MESH:C535880", source="Orphanet:2315"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0009480 name: Joubert syndrome with oculorenal defect def: "Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease." [Orphanet:2318] subset: gard_rare subset: ordo_disease {source="Orphanet:2318"} synonym: "Arima syndrome" EXACT [Orphanet:2318] synonym: "cerebello-oculo-renal syndrome" RELATED [GARD:0009455] synonym: "Cerebellooculorenal syndrome" EXACT [Orphanet:2318] synonym: "cerebro-oculo-hepato-renal syndrome" RELATED [GARD:0009455] synonym: "cerebrooculohepatorenal syndrome" RELATED [OMIM:243910] synonym: "chorioretinal coloboma with cerebellar vermis aplasia" RELATED [GARD:0009455] synonym: "coloboma, chorioretinal, with cerebellar vermis aplasia" RELATED [OMIM:243910] synonym: "CORS" EXACT ABBREVIATION [Orphanet:2318] synonym: "Dekaban Arima syndrome" RELATED [GARD:0009455] synonym: "Dekaban-Arima syndrome" EXACT [Orphanet:2318] synonym: "Joubert syndrome 5" RELATED [GARD:0009455] synonym: "Joubert syndrome with bilateral chorioretinal coloboma" RELATED [GARD:0009455, OMIM:243910] synonym: "Joubert syndrome with oculorenal anomalies" RELATED [GARD:0009455] synonym: "Joubert syndrome with oculorenal defect" EXACT [GARD:0009455] synonym: "Joubert syndrome with Senior-Loken syndrome" EXACT [Orphanet:2318] synonym: "JS type B" EXACT [GARD:0009455, Orphanet:2318] synonym: "JS-OR" EXACT [GARD:0009455, Orphanet:2318] xref: MESH:C537430 {source="MONDO:equivalentTo"} xref: OMIM:243910 {source="Orphanet:2318/e", source="MONDO:equivalentTo", source="Orphanet:2318", source="GARD:0009455"} xref: Orphanet:2318 {source="MONDO:equivalentTo", source="GARD:0009455", source="OMIM:243910"} xref: SCTID:721862000 {source="MONDO:equivalentTo"} xref: UMLS:C1855675 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2318", source="GARD:0009455", source="OMIM:243910"} is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0015369 {source="Orphanet:2318"} ! Joubert syndrome and related disorders is_a: MONDO:0020022 ! central nervous system malformation is_a: MONDO:0020240 {source="Orphanet:2318"} ! syndromic retinitis pigmentosa relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation property_value: exactMatch http://identifiers.org/mesh/C537430 property_value: exactMatch http://identifiers.org/snomedct/721862000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855675 property_value: exactMatch https://omim.org/entry/243910 property_value: exactMatch Orphanet:2318 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9455/joubert-syndrome-with-oculorenal-anomalies xsd:anyURI {source="GARD:0009455"} [Term] id: MONDO:0009483 name: Kapur-Toriello syndrome def: "Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation." [Orphanet:2328] subset: gard_rare {source="GARD:0003078"} subset: ordo_malformation_syndrome {source="Orphanet:2328"} synonym: "cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome" EXACT [Orphanet:2328] synonym: "kapur Toriello syndrome" RELATED [GARD:0003078] synonym: "kapur-Toriello syndrome" EXACT [OMIM:244300] synonym: "long columella with cleft lip/palate and eye, heart and intestinal anomalies" RELATED [GARD:0003078] synonym: "long columella with cleft Lip/palate and eye, heart, and intestinal anomalies" RELATED [OMIM:244300] xref: MESH:C537008 {source="MONDO:equivalentTo", source="Orphanet:2328", source="Orphanet:2328/e"} xref: OMIM:244300 {source="MONDO:equivalentTo", source="Orphanet:2328", source="Orphanet:2328/e"} xref: Orphanet:2328 {source="MONDO:equivalentTo", source="OMIM:244300"} xref: SCTID:722031003 {source="MONDO:equivalentTo"} xref: UMLS:C0796005 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2328", source="OMIM:244300", source="Orphanet:2328/e"} is_a: MONDO:0015159 {source="Orphanet:2328"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C537008 property_value: exactMatch http://identifiers.org/snomedct/722031003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796005 property_value: exactMatch https://omim.org/entry/244300 property_value: exactMatch Orphanet:2328 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2328"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3078/kapur-toriello-syndrome xsd:anyURI {source="GARD:0003078"} [Term] id: MONDO:0009485 name: oculocerebrofacial syndrome, Kaufman type subset: ordo_malformation_syndrome {source="Orphanet:2707"} synonym: "blepharophimosis-ptosis-intellectual disability syndrome" EXACT [OMIM:244450] synonym: "BPIDS" EXACT ABBREVIATION [OMIM:244450] synonym: "Kaufman oculocerebrofacial syndrome" RELATED [MONDO:Lexical, OMIM:244450] synonym: "KOS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:244450] synonym: "kos" RELATED [OMIM:244450] synonym: "oculocerebrofacial syndrome, Kaufman type" EXACT [] synonym: "severe intellectual disability, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet" RELATED [GARD:0003084] synonym: "severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet" RELATED DEPRECATED [GARD:0003084] xref: DOID:0111456 {source="MONDO:equivalentTo"} xref: MESH:C537013 {source="Orphanet:2707/e", source="MONDO:equivalentTo", source="Orphanet:2707"} xref: OMIM:244450 {source="Orphanet:2707/e", source="MONDO:equivalentTo", source="Orphanet:2707"} xref: Orphanet:2707 {source="OMIM:244450", source="MONDO:equivalentTo"} xref: SCTID:722056009 {source="MONDO:equivalentTo"} xref: UMLS:C1855663 {source="OMIM:244450", source="Orphanet:2707/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2707"} is_a: MONDO:0015159 {source="Orphanet:2707"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020145 {source="Orphanet:2707", source="Orphanet:2707/inferred"} ! developmental defect of the eye property_value: exactMatch DOID:0111456 property_value: exactMatch http://identifiers.org/mesh/C537013 property_value: exactMatch http://identifiers.org/snomedct/722056009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855663 property_value: exactMatch https://omim.org/entry/244450 property_value: exactMatch Orphanet:2707 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2707"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0009486 name: autosomal recessive Kenny-Caffey syndrome def: "An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet." [NCIT:C130992] subset: gard_rare subset: ordo_etiological_subtype {source="Orphanet:93324"} synonym: "Kcs" RELATED [OMIM:244460] synonym: "KCS1" RELATED ABBREVIATION [GARD:0008367, MONDO:Lexical, OMIM:244460] synonym: "Kenny-Caffey syndrome type 1" EXACT [NCIT:C130992] synonym: "Kenny-Caffey syndrome, autosomal recessive" EXACT [GARD:0008367, MONDO:patterns/autosomal_recessive, OMIM:244460] synonym: "Kenny-Caffey syndrome, type 1" RELATED [MONDO:Lexical, OMIM:244460] xref: DOID:0080722 {source="MONDO:equivalentTo"} xref: MESH:C537021 {source="MONDO:equivalentTo"} xref: NCIT:C130992 {source="MONDO:equivalentTo"} xref: OMIM:244460 {source="MONDO:equivalentTo", source="Orphanet:93324", source="GARD:0008367", source="Orphanet:93324/e"} xref: Orphanet:93324 {source="OMIM:244460", source="MONDO:equivalentTo", source="GARD:0008367"} xref: UMLS:C1855648 {source="OMIM:244460", source="MONDO:equivalentTo", source="Orphanet:93324", source="MONDO:ncbi_mim2gene_medline", source="GARD:0008367", source="NCIT:C130992"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0016516 {source="DC-OMIM:244460", source="MONDO:Redundant", source="OMIM:244460", source="Orphanet:93324"} ! Kenny-Caffey syndrome property_value: exactMatch DOID:0080722 property_value: exactMatch http://identifiers.org/mesh/C537021 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855648 property_value: exactMatch https://omim.org/entry/244460 property_value: exactMatch NCIT:C130992 property_value: exactMatch Orphanet:93324 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8367/kenny-caffey-syndrome-type-1 xsd:anyURI {source="GARD:0008367"} [Term] id: MONDO:0009489 name: hereditary palmoplantar keratoderma, Gamborg-Nielsen type def: "Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterized by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive." [Orphanet:86923] subset: ordo_disease {source="Orphanet:86923"} synonym: "hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type" EXACT [Orphanet:86923] synonym: "palmoplantar keratoderma, Norrbotten recessive type" RELATED [MONDO:Lexical, OMIM:244850] synonym: "PPK, Gamborg-Nielsen type" EXACT [Orphanet:86923] synonym: "PPKNR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:244850] xref: MESH:C565454 {source="MONDO:equivalentTo"} xref: OMIM:244850 {source="MONDO:equivalentTo", source="Orphanet:86923", source="Orphanet:86923/e"} xref: Orphanet:86923 {source="MONDO:equivalentTo", source="OMIM:244850"} xref: SCTID:717228004 {source="MONDO:equivalentTo"} is_a: MONDO:0020096 {source="Orphanet:86923"} ! autosomal recessive isolated diffuse palmoplantar keratoderma property_value: exactMatch http://identifiers.org/mesh/C565454 property_value: exactMatch http://identifiers.org/snomedct/717228004 property_value: exactMatch https://omim.org/entry/244850 property_value: exactMatch Orphanet:86923 [Term] id: MONDO:0009490 name: Papillon-Lefevre disease def: "Papillon-Lefevre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." [Orphanet:678] subset: ordo_disease {source="Orphanet:678"} synonym: "hyperkeratosis palmoplantaris with periodontosis" RELATED [GARD:0003100] synonym: "Keratoris palmoplantaris with periodontopathia" RELATED [GARD:0003100] synonym: "keratosis palmoplantar - periodontopathy" RELATED [GARD:0003100] synonym: "keratosis palmoplantar-periodontopathy syndrome" EXACT [Orphanet:678] synonym: "keratosis palmoplantaris with periodontopathia" RELATED [OMIM:245000] synonym: "palmar-plantar hyperkeratosis and concomitant periodontal destruction" RELATED [GARD:0003100] synonym: "palmoplantar keratoderma with periodontosis" RELATED [GARD:0003100] synonym: "PALS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245000] synonym: "Papillon Lefevre syndrome" EXACT [DOID:3389] synonym: "PAPILLON-Lefevre syndrome" RELATED [MONDO:Lexical, OMIM:245000] synonym: "Papillon-Lefvre syndrome" EXACT [DOID:3389] synonym: "Papillon-LEFèvre syndrome" RELATED [Orphanet:678] synonym: "PLS" EXACT ABBREVIATION [Orphanet:678] synonym: "Pls" RELATED [OMIM:245000] xref: DOID:3389 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D010214 {source="Orphanet:678", source="DOID:3389", source="MONDO:equivalentTo", source="Orphanet:678/e"} xref: NCIT:C84992 {source="DOID:3389", source="MONDO:equivalentTo"} xref: OMIM:245000 {source="Orphanet:678", source="DOID:3389", source="MONDO:equivalentTo", source="Orphanet:678/e"} xref: Orphanet:678 {source="OMIM:245000", source="MONDO:equivalentTo"} xref: SCTID:40158001 {source="DOID:3389", source="MONDO:equivalentTo"} xref: UMLS:C0030360 {source="Orphanet:678", source="DOID:3389", source="OMIM:245000", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:678/e", source="NCIT:C84992"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0002635 {source="DOID:3389"} ! periodontal disorder is_a: MONDO:0015978 {source="Orphanet:678"} ! functional neutrophil defect is_a: MONDO:0017666 {source="MONDO:0017671-obsoleted"} ! diffuse palmoplantar keratoderma is_a: MONDO:0017739 {source="Orphanet:678"} ! disorder of lysosomal-related organelles is_a: MONDO:0019287 {source="Orphanet:678"} ! ectodermal dysplasia syndrome property_value: exactMatch DOID:3389 property_value: exactMatch http://identifiers.org/mesh/D010214 property_value: exactMatch http://identifiers.org/snomedct/40158001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030360 property_value: exactMatch https://omim.org/entry/245000 property_value: exactMatch NCIT:C84992 property_value: exactMatch Orphanet:678 [Term] id: MONDO:0009491 name: Haim-Munk syndrome def: "Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis." [Orphanet:2342] subset: gard_rare {source="GARD:0000044"} subset: ordo_disease {source="Orphanet:2342"} synonym: "Cochin Jewish disorder" RELATED [OMIM:245010] synonym: "HAIM-Munk syndrome" RELATED [OMIM:245010] synonym: "Haim-Munk syndrome" EXACT [MONDO:Lexical, OMIM:245010] synonym: "HMS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245010] synonym: "keratosis palmoplantaris with periodontopathia and onychogryposis" RELATED [OMIM:245010] synonym: "keratosis palmoplantaris-periodontopathia-onychogryposis syndrome" EXACT [Orphanet:2342] synonym: "palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome" EXACT [Orphanet:2342] synonym: "palmoplantar keratoderma-periodontopathia-onychogryposis syndrome" EXACT [Orphanet:2342] xref: MESH:C537627 {source="Orphanet:2342", source="MONDO:equivalentTo", source="Orphanet:2342/e"} xref: OMIM:245010 {source="Orphanet:2342", source="MONDO:equivalentTo", source="Orphanet:2342/e"} xref: Orphanet:2342 {source="OMIM:245010", source="MONDO:equivalentTo"} xref: SCTID:719973009 {source="MONDO:equivalentTo"} xref: UMLS:C1855627 {source="Orphanet:2342", source="OMIM:245010", source="MONDO:equivalentTo", source="Orphanet:2342/e", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0017666 {source="MONDO:0017671-obsoleted"} ! diffuse palmoplantar keratoderma is_a: MONDO:0017739 {source="Orphanet:2342"} ! disorder of lysosomal-related organelles property_value: exactMatch http://identifiers.org/mesh/C537627 property_value: exactMatch http://identifiers.org/snomedct/719973009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855627 property_value: exactMatch https://omim.org/entry/245010 property_value: exactMatch Orphanet:2342 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/44/haim-munk-syndrome xsd:anyURI {source="GARD:0000044"} [Term] id: MONDO:0009492 name: succinyl-CoA:3-ketoacid CoA transferase deficiency def: "Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis." [Orphanet:832] subset: ordo_disease {source="Orphanet:832"} synonym: "3-oxoacid CoA transferase deficiency" RELATED [GARD:0004774] synonym: "ketoacidosis due to Scot deficiency" RELATED [OMIM:245050] synonym: "OXCT1 deficiency" EXACT [Orphanet:832] synonym: "SCOT deficiency" EXACT [Orphanet:832] synonym: "Scot deficiency" RELATED [OMIM:245050] synonym: "SCOTD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245050] synonym: "Succinyl CoA:3-oxoacid CoA transferase deficiency" EXACT [OMIM:245050, OMIM:genemap2] synonym: "succinyl-CoA acetoacetate transferase deficiency" EXACT [Orphanet:832] synonym: "succinyl-CoA:3-ketoacid CoA transferase deficiency" EXACT [] synonym: "succinyl-Coa:3-ketoacid Coa-transferase deficiency" RELATED [OMIM:245050] synonym: "succinyl-CoA:3-oxoacid CoA transferase deficiency" EXACT [Orphanet:832] synonym: "succinyl-CoA:3-oxoacid-CoA transferase deficiency" RELATED [MONDO:Lexical, OMIM:245050] synonym: "succinyl-Coa:acetoacetate transferase deficiency" RELATED [OMIM:245050] xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537527 {source="MONDO:equivalentTo"} xref: OMIM:245050 {source="Orphanet:832", source="MONDO:equivalentTo", source="Orphanet:832/e"} xref: Orphanet:832 {source="MONDO:equivalentTo", source="OMIM:245050"} xref: SCTID:238004006 {source="MONDO:equivalentTo"} is_a: MONDO:0019229 {source="Orphanet:832"} ! inborn disorder of ketolysis property_value: exactMatch http://identifiers.org/mesh/C537527 property_value: exactMatch http://identifiers.org/snomedct/238004006 property_value: exactMatch https://omim.org/entry/245050 property_value: exactMatch Orphanet:832 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009493 name: Richards-Rundle syndrome def: "Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria." [Orphanet:1399] subset: ordo_malformation_syndrome {source="Orphanet:1399"} synonym: "ataxia-deafness-intellectual disability syndrome" RELATED [OMIM:245100] synonym: "ataxia-deafness-mental retardation syndrome" RELATED DEPRECATED [OMIM:245100] synonym: "ataxia-deafness-retardation syndrome with ketoaciduria" RELATED [GARD:0008423] synonym: "familial ataxia-hypogonadism syndrome" RELATED [GARD:0008423] synonym: "ketoaciduria - intellectual disability - ataxia - deafness" RELATED [GARD:0008423] synonym: "ketoaciduria-intellectual disability-ataxia-deafness syndrome" EXACT [Orphanet:1399] synonym: "ketoaciduria-mental deficiency syndrome" RELATED [GARD:0008423] synonym: "RICHARDS-RUNDLE syndrome" RELATED [OMIM:245100] synonym: "Richards-Rundle syndrome" EXACT [MONDO:Lexical, OMIM:245100] synonym: "RRNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245100] xref: MESH:C535674 {source="Orphanet:1399", source="MONDO:equivalentTo", source="Orphanet:1399/e"} xref: OMIM:245100 {source="Orphanet:1399", source="MONDO:equivalentTo", source="Orphanet:1399/e"} xref: Orphanet:1399 {source="OMIM:245100", source="MONDO:equivalentTo"} xref: SCTID:715415005 {source="MONDO:equivalentTo"} xref: UMLS:C0796136 {source="OMIM:245100", source="Orphanet:1399", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1399/e"} is_a: EFO:0009671 {source="Orphanet:1399"} ! hereditary ataxia property_value: exactMatch http://identifiers.org/mesh/C535674 property_value: exactMatch http://identifiers.org/snomedct/715415005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796136 property_value: exactMatch https://omim.org/entry/245100 property_value: exactMatch Orphanet:1399 [Term] id: MONDO:0009495 name: Keutel syndrome def: "Keutel syndrome is characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism." [Orphanet:85202] subset: gard_rare {source="GARD:0008449"} subset: ordo_malformation_syndrome {source="Orphanet:85202"} synonym: "KEUTEL syndrome" RELATED [OMIM:245150] synonym: "Keutel syndrome" EXACT [MONDO:Lexical, OMIM:245150] synonym: "KTLS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245150] synonym: "pulmonic stenosis brachytelephalangism and calcification of cartilages" RELATED [GARD:0008449] synonym: "pulmonic stenosis, brachytelephalangism, and calcification of cartilages" RELATED [OMIM:245150] synonym: "pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome" EXACT [Orphanet:85202] xref: MESH:C536167 {source="Orphanet:85202", source="MONDO:equivalentTo", source="Orphanet:85202/e"} xref: OMIM:245150 {source="Orphanet:85202", source="MONDO:equivalentTo", source="Orphanet:85202/e"} xref: Orphanet:85202 {source="OMIM:245150", source="MONDO:equivalentTo"} xref: SCTID:724208006 {source="MONDO:equivalentTo"} xref: UMLS:C1855607 {source="OMIM:245150", source="Orphanet:85202", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:85202/e"} is_a: MONDO:0015159 {source="Orphanet:85202"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0018454 ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation is_a: MONDO:0019701 {source="Orphanet:85202", source="PMID:31633310"} ! chondrodysplasia punctata property_value: exactMatch http://identifiers.org/mesh/C536167 property_value: exactMatch http://identifiers.org/snomedct/724208006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855607 property_value: exactMatch https://omim.org/entry/245150 property_value: exactMatch Orphanet:85202 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:85202"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8449/keutel-syndrome xsd:anyURI {source="GARD:0008449"} [Term] id: MONDO:0009498 name: lethal Kniest-like dysplasia def: "Lethal Kniest-like dysplasia is a severe lethal skeletal dysplasia. It has been described in two sibs (one male and one female) born to nonconsanguineous parents. It is characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities." [Orphanet:2347] subset: gard_rare {source="GARD:0003124"} subset: ordo_malformation_syndrome {source="Orphanet:2347"} synonym: "arthrosis, flat face, hypotonia, short neck and macrocephaly" RELATED [GARD:0003124] synonym: "Kniest like dysplasia lethal" RELATED [GARD:0003124] synonym: "Kniest-like dysplasia, lethal" RELATED [OMIM:245190] xref: MESH:C537208 {source="MONDO:equivalentTo", source="Orphanet:2347", source="Orphanet:2347/e"} xref: OMIM:245190 {source="MONDO:equivalentTo", source="Orphanet:2347", source="Orphanet:2347/e"} xref: Orphanet:2347 {source="MONDO:equivalentTo", source="OMIM:245190"} xref: UMLS:C1855605 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2347", source="OMIM:245190", source="Orphanet:2347/e"} is_a: MONDO:0019718 {source="Orphanet:2347"} ! lethal chondrodysplasia property_value: exactMatch http://identifiers.org/mesh/C537208 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855605 property_value: exactMatch https://omim.org/entry/245190 property_value: exactMatch Orphanet:2347 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3124/kniest-like-dysplasia-lethal xsd:anyURI {source="GARD:0003124"} [Term] id: MONDO:0009499 name: Krabbe disease def: "A lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." [Orphanet:487] comment: Pathogenesis: rapid and nearly complete disappearance of myelin and myelin-forming cells--the oligodendrocytes in the central nervous system and the Schwann cells in the peripheral nervous system, reactive astroytic gliosis, and infiltration of the unique and often multinucleated macrophages ("globoid cells") that contain strongly periodic acid-Schiff (PAS)-positive materials. A normally insignificant but highly cytotoxic metabolite, galactosylsphingosine (psychosine), is also a substrate of galactosylceramidase and is considered to play a critical role in the pathogenesis[PMID:14572137] subset: ordo_disease {source="Orphanet:487"} synonym: "beta galactocerebrosidase deficiency" EXACT [DOID:10587] synonym: "diffuse globoid body sclerosis" EXACT [DOID:10587] synonym: "galactocerebrosidase deficiency" EXACT [Orphanet:487] synonym: "galactosylceramidase deficiency" EXACT [Orphanet:487] synonym: "galactosylceramide Beta-galactosidase deficiency" RELATED [OMIM:245200] synonym: "galactosylceramide lipidosis" EXACT [NCIT:C61254] synonym: "GALC deficiency" EXACT [Orphanet:487] synonym: "GLD" RELATED ABBREVIATION [GARD:0006844] synonym: "globoid cell leukodystrophy" EXACT [DOID:10587, OMIM:245200, Orphanet:487, PMID:14572137] synonym: "globoid cell leukoencephalopathy" EXACT [DOID:10587, OMIM:245200] synonym: "Krabbe disease" EXACT [OMIM:245200] synonym: "Krabbe leukodystrophy" RELATED [GARD:0006844] synonym: "Krabbe's disease" EXACT [DOID:10587] synonym: "Krabbe's leukodystrophy" EXACT [DOID:10587] xref: DOID:10587 {source="MONDO:equivalentTo"} xref: ICD10CM:E75.23 {source="DOID:10587", source="MONDO:equivalentTo"} xref: MedDRA:10023492 {source="Orphanet:487/e", source="Orphanet:487"} xref: MESH:D007965 {source="DOID:10587", source="MONDO:equivalentTo"} xref: NCIT:C61254 {source="DOID:10587", source="MONDO:equivalentTo"} xref: OMIM:245200 {source="DOID:10587", source="Orphanet:487/e", source="MONDO:equivalentTo", source="Orphanet:487"} xref: Orphanet:487 {source="MONDO:equivalentTo", source="OMIM:245200"} xref: SCTID:189979005 {source="DOID:10587", source="MONDO:equivalentTo"} xref: UMLS:C0023521 {source="DOID:10587", source="Orphanet:487/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:245200", source="NCIT:C61254", source="Orphanet:487"} is_a: MONDO:0004884 {source="MONDO:Entailed"} ! eye degenerative disorder is_a: MONDO:0019046 {source="NCIT:C61254", source="Orphanet:487", source="https://rarediseases.org/rare-diseases/leukodystrophy/"} ! leukodystrophy is_a: MONDO:0019255 {source="DOID:10587", source="MESH:D007965", source="MONDO:0018299-obsoleted", source="NCIT:C61254", source="Orphanet:487", source="PMID:21502308"} ! sphingolipidosis is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy property_value: closeMatch http://identifiers.org/meddra/10023492 property_value: exactMatch DOID:10587 property_value: exactMatch http://identifiers.org/mesh/D007965 property_value: exactMatch http://identifiers.org/snomedct/189979005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023521 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E75.23 property_value: exactMatch https://omim.org/entry/245200 property_value: exactMatch NCIT:C61254 property_value: exactMatch Orphanet:487 [Term] id: MONDO:0009500 name: kuru, susceptibility to subset: predisposition synonym: "kuru, susceptibility to" EXACT [OMIM:245300] synonym: "susceptibility to kuru" RELATED [OMIM:245300] xref: OMIM:245300 {source="MONDO:equivalentTo"} xref: UMLS:C1855588 {source="MONDO:equivalentTo", source="OMIM:245300", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015979 ! hereditary predisposition to infections relationship: predisposes_towards EFO:1001008 ! kuru property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855588 property_value: exactMatch https://omim.org/entry/245300 property_value: excluded_subClassOf MONDO:0006825 {source="Orphanet:454745/btnt"} [Term] id: MONDO:0009501 name: metabolic myopathy due to lactate transporter defect def: "Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase." [Orphanet:171690] subset: ordo_disease {source="Orphanet:171690"} synonym: "erythrocyte lactate transporter defect" EXACT [OMIM:245340, Orphanet:171690] synonym: "lactate transporter defect, myopathy due to" RELATED [OMIM:245340] xref: MESH:C565449 {source="MONDO:equivalentTo"} xref: OMIM:245340 {source="Orphanet:171690", source="MONDO:equivalentTo", source="Orphanet:171690/e"} xref: Orphanet:171690 {source="OMIM:245340", source="MONDO:equivalentTo"} xref: SCTID:766715000 {source="MONDO:equivalentTo"} xref: UMLS:C1855577 {source="OMIM:245340", source="Orphanet:171690", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0020123 {source="Orphanet:171690"} ! metabolic myopathy property_value: exactMatch http://identifiers.org/mesh/C565449 property_value: exactMatch http://identifiers.org/snomedct/766715000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855577 property_value: exactMatch https://omim.org/entry/245340 property_value: exactMatch Orphanet:171690 [Term] id: MONDO:0009502 name: pyruvate dehydrogenase E2 deficiency def: "Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." [Orphanet:79244] subset: ordo_clinical_subtype {source="Orphanet:79244"} synonym: "dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency" EXACT [Orphanet:79244] synonym: "dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency" EXACT [Orphanet:79244] synonym: "lactic acidemia due to defect of E2 lipoyl transacetylase of the pyruvate dehydrogenase Complex" RELATED [OMIM:245348] synonym: "PDHDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245348] synonym: "pyruvate dehydrogenase complex component E2 deficiency" EXACT [Orphanet:79244] synonym: "pyruvate dehydrogenase E2 deficiency" EXACT [MONDO:Lexical, OMIM:245348] xref: MESH:C565448 {source="MONDO:equivalentTo"} xref: OMIM:245348 {source="Orphanet:79244/e", source="MONDO:equivalentTo", source="Orphanet:79244"} xref: Orphanet:79244 {source="MONDO:equivalentTo", source="OMIM:245348"} xref: UMLS:C1855565 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:245348", source="Orphanet:79244"} is_a: MONDO:0019169 {source="DC-OMIM:245348", source="OMIM:245348", source="Orphanet:79244"} ! pyruvate dehydrogenase deficiency property_value: exactMatch http://identifiers.org/mesh/C565448 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855565 property_value: exactMatch https://omim.org/entry/245348 property_value: exactMatch Orphanet:79244 [Term] id: MONDO:0009503 name: pyruvate dehydrogenase E3-binding protein deficiency def: "Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction." [Orphanet:255182] subset: ordo_clinical_subtype {source="Orphanet:255182"} synonym: "2-oxoglutarate complex deficiency" EXACT [Orphanet:255182] synonym: "branched chain alpha-ketoacid dehydrogenase complex deficiency" EXACT [Orphanet:255182] synonym: "diaphorase deficiency" EXACT [Orphanet:255182] synonym: "dihydrolipoyl dehydrogenase deficiency" EXACT [Orphanet:255182] synonym: "Glycine cleavage system L protein deficiency" EXACT [Orphanet:255182] synonym: "lactic acidemia due to defect in lipoyl-containing component 10 of the pyruvate dehydrogenase Complex" RELATED [OMIM:245349] synonym: "lacticacidemia due to PDX1 deficiency" EXACT [OMIM:245349, OMIM:genemap2] synonym: "lipoamide dehydrogenase deficiency" EXACT [Orphanet:255182] synonym: "PDHXD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245349] synonym: "pyruvate dehydrogenase complex component E3 deficiency" EXACT [Orphanet:255182] synonym: "pyruvate dehydrogenase E3-binding PROTEIN deficiency" RELATED [OMIM:245349] synonym: "pyruvate dehydrogenase E3-binding protein deficiency" EXACT [MONDO:Lexical, OMIM:245349] synonym: "pyruvate dehydrogenase protein X component deficiency" EXACT [Orphanet:255182] xref: MESH:C565447 {source="MONDO:equivalentTo"} xref: OMIM:245349 {source="Orphanet:255182/e", source="MONDO:equivalentTo", source="Orphanet:255182"} xref: Orphanet:255182 {source="MONDO:equivalentTo", source="OMIM:245349"} xref: UMLS:C1855553 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:255182", source="OMIM:245349"} is_a: MONDO:0019169 {source="DC-OMIM:245349", source="OMIM:245349", source="Orphanet:255182"} ! pyruvate dehydrogenase deficiency property_value: exactMatch http://identifiers.org/mesh/C565447 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855553 property_value: exactMatch https://omim.org/entry/245349 property_value: exactMatch Orphanet:255182 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009504 name: mitochondrial DNA depletion syndrome 9 def: "Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated." [Orphanet:17] subset: gard_rare subset: ordo_disease {source="Orphanet:17"} synonym: "fatal infantile lactic acidosis with methylmalonic aciduria" RELATED [Orphanet:17] synonym: "lactic acidosis congenital infantile" RELATED [GARD:0003163] synonym: "lactic acidosis, fatal infantile" RELATED [OMIM:245400] synonym: "lactic acidosis, fatal infantile, formerly" RELATED [OMIM:245400] synonym: "mitochondrial DNA depletion syndrome 9" EXACT [] synonym: "mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)" RELATED [MONDO:Lexical, OMIM:245400] synonym: "mitochondrial DNA depletion syndrome caused by mutation in SUCLG1" EXACT [MONDO:design_pattern] synonym: "mitochondrial DNA depletion syndrome type 9" EXACT [DOID:0080128, MONDORULE:1] synonym: "MTDPS9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245400] synonym: "succinate-CoA ligase deficiency" BROAD [https://orcid.org/0000-0001-6330-7526, PMID:26475597, PMID:31240156] synonym: "SUCLG1 mitochondrial DNA depletion syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080128 {source="MONDO:equivalentTo"} xref: MESH:C538134 {source="MONDO:equivalentTo"} xref: MESH:C566885 {source="MONDO:equivalentTo"} xref: OMIM:245400 {source="MONDO:equivalentTo", source="Orphanet:17", source="DOID:0080128", source="GARD:0003163", source="Orphanet:17/e"} xref: Orphanet:17 {source="MONDO:equivalentTo", source="OMIM:245400"} xref: SCTID:715338007 {source="MONDO:equivalentTo"} is_a: EFO:1000036 {source="MESH:C538134", source="MESH:C566885", source="OMIM:245400"} ! lactic acidosis is_a: MONDO:0016796 {source="Orphanet:17"} ! mitochondrial DNA depletion syndrome, encephalomyopathic form property_value: exactMatch DOID:0080128 property_value: exactMatch http://identifiers.org/mesh/C538134 property_value: exactMatch http://identifiers.org/mesh/C566885 property_value: exactMatch http://identifiers.org/snomedct/715338007 property_value: exactMatch https://omim.org/entry/245400 property_value: exactMatch Orphanet:17 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3163/lactic-acidosis-congenital-infantile xsd:anyURI {source="GARD:0003163"} [Term] id: MONDO:0009505 name: lactic aciduria due to D-lactic acid synonym: "D-lactic aciduria with susceptibility to gout" EXACT [OMIM:245450, OMIM:genemap2] synonym: "lactic aciduria due to D-lactic acid" EXACT [OMIM:245450] xref: MESH:C565446 {source="MONDO:equivalentTo"} xref: OMIM:245450 {source="MONDO:equivalentTo"} xref: UMLS:C1855552 {source="OMIM:245450", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis property_value: exactMatch http://identifiers.org/mesh/C565446 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855552 property_value: exactMatch https://omim.org/entry/245450 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009506 name: specific granule deficiency subset: ordo_disease {source="Orphanet:169142"} synonym: "lactoferrin-deficient neutrophils" RELATED [OMIM:245480] synonym: "neutrophil lactoferrin deficiency" RELATED [OMIM:245480] synonym: "neutrophil-specific granule deficiency" EXACT [Orphanet:169142] synonym: "recurrent infection due to specific granule deficiency" EXACT [Orphanet:169142] synonym: "SGD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245480] synonym: "specific granule deficiency" EXACT [MONDO:Lexical, OMIM:245480] xref: MESH:C562873 {source="MONDO:equivalentTo"} xref: OMIMPS:245480 {source="MONDO:equivalentTo"} xref: Orphanet:169142 {source="OMIM:245480", source="MONDO:equivalentTo"} xref: SCTID:234587000 {source="MONDO:equivalentTo"} xref: UMLS:C0398593 {source="OMIM:245480", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015978 {source="Orphanet:169142"} ! functional neutrophil defect is_a: MONDO:0024626 ! defective phagocytic cell engulfment property_value: exactMatch http://identifiers.org/mesh/C562873 property_value: exactMatch http://identifiers.org/snomedct/234587000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398593 property_value: exactMatch https://omim.org/phenotypicSeries/PS245480 property_value: exactMatch Orphanet:169142 [Term] id: MONDO:0009507 name: Lambert syndrome def: "Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit." [Orphanet:1296] subset: gard_rare {source="GARD:0003169"} subset: ordo_malformation_syndrome {source="Orphanet:1296"} synonym: "branchial dysplasia clubfoot inguinal hernia and biliary atresia" RELATED [GARD:0003169] synonym: "branchial dysplasia, clubfoot, inguinal hernia, and biliary atresia" RELATED [OMIM:245550] synonym: "branchial dysplasia-intellectual disability-inguinal hernia syndrome" EXACT [Orphanet:1296] synonym: "Lambert syndrome" EXACT [OMIM:245550] xref: MESH:C538396 {source="Orphanet:1296", source="MONDO:equivalentTo", source="Orphanet:1296/e"} xref: OMIM:245550 {source="Orphanet:1296", source="MONDO:equivalentTo", source="Orphanet:1296/e"} xref: Orphanet:1296 {source="OMIM:245550", source="MONDO:equivalentTo"} xref: SCTID:732961003 {source="MONDO:equivalentTo"} xref: UMLS:C1855551 {source="Orphanet:1296", source="OMIM:245550", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1296/e"} is_a: MONDO:0015159 {source="Orphanet:1296"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015334 {source="Orphanet:1296"} ! branchial arch or oral-acral syndrome property_value: exactMatch http://identifiers.org/mesh/C538396 property_value: exactMatch http://identifiers.org/snomedct/732961003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855551 property_value: exactMatch https://omim.org/entry/245550 property_value: exactMatch Orphanet:1296 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3169/lambert-syndrome xsd:anyURI {source="GARD:0003169"} [Term] id: MONDO:0009511 name: Larsen-like syndrome, B3GAT3 type def: "Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported." [Orphanet:284139] subset: ordo_malformation_syndrome {source="Orphanet:284139"} synonym: "JDSCD" RELATED ABBREVIATION [OMIM:245600] synonym: "Larsen syndrome, autosomal recessive" RELATED [OMIM:245600] synonym: "Larsen syndrome, autosomal recessive, formerly" RELATED [OMIM:245600] synonym: "multiple JOINT dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects" RELATED [OMIM:245600] synonym: "multiple Joint dislocations, short stature, and craniofacial Dysmorphism with or without congenital heart defects" RELATED [OMIM:245600] synonym: "multiple JOINT dislocations, short stature, craniofacial dysmorphism, and congenital heart defects" RELATED [OMIM:245600] synonym: "multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects" EXACT [OMIM:245600, OMIM:genemap2] synonym: "multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome" EXACT [Orphanet:284139] xref: DOID:0080575 {source="MONDO:equivalentTo"} xref: MESH:C537874 {source="MONDO:equivalentTo"} xref: OMIM:245600 {source="Orphanet:284139/e", source="MONDO:equivalentTo", source="Orphanet:284139"} xref: Orphanet:284139 {source="MONDO:equivalentTo", source="OMIM:245600"} is_a: EFO:0003777 {source="MONDO:0018290-obsoleted"} ! heart disease is_a: MONDO:0017742 {source="Orphanet:284139"} ! disorder of O-xylosylglycan synthesis is_a: MONDO:0018292 {source="Orphanet:284139"} ! congenital disorder of glycosylation-related bone disorder is_a: MONDO:0800086 {source="PMID:31633310"} ! primary bone dysplasia with multiple joint dislocations property_value: exactMatch DOID:0080575 property_value: exactMatch http://identifiers.org/mesh/C537874 property_value: exactMatch https://omim.org/entry/245600 property_value: exactMatch Orphanet:284139 property_value: excluded_subClassOf MONDO:0019700 {source="Orphanet:284139"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0009512 name: lethal Larsen-like syndrome def: "Larsen-like syndrome, lethal type, is characterized by multiple joint dislocation and respiratory insufficiency due to tracheomalacia and/or lung hypoplasia. It has been described in less than ten patients. Transmission is thought to be autosomal recessive. Brain dysplasia has been described in some patients and could result from systemic hypoxic-ischemic insults during the second half of pregnancy, although genetic factors have not been ruled out." [Orphanet:2371] subset: ordo_malformation_syndrome {source="Orphanet:2371"} synonym: "Larsen-like multiple joint dislocation syndrome" RELATED [GARD:0003181] synonym: "Larsen-like syndrome, lethal type" RELATED [OMIM:245650] xref: MESH:C537872 {source="Orphanet:2371/e", source="MONDO:equivalentTo", source="Orphanet:2371"} xref: OMIM:245650 {source="Orphanet:2371/e", source="MONDO:equivalentTo", source="Orphanet:2371"} xref: Orphanet:2371 {source="OMIM:245650", source="MONDO:equivalentTo"} xref: SCTID:719409004 {source="MONDO:equivalentTo"} xref: UMLS:C1855535 {source="Orphanet:2371/e", source="OMIM:245650", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2371"} xref: UMLS:C4304741 {source="MONDO:equivalentTo"} is_a: MONDO:0019755 {source="MONDO:0015332-obsoleted"} ! developmental defect during embryogenesis property_value: exactMatch http://identifiers.org/mesh/C537872 property_value: exactMatch http://identifiers.org/snomedct/719409004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855535 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304741 property_value: exactMatch https://omim.org/entry/245650 property_value: exactMatch Orphanet:2371 property_value: excluded_subClassOf MONDO:0019700 {source="Orphanet:2371"} [Term] id: MONDO:0009513 name: laryngo-onycho-cutaneous syndrome def: "LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." [Orphanet:2407] subset: ordo_disease {source="Orphanet:2407"} synonym: "laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome" EXACT [Orphanet:2407] synonym: "laryngo-onycho-cutaneous syndrome" EXACT [Orphanet:2407] synonym: "LARYNGOONYCHOCUTANEOUS syndrome" RELATED [MONDO:Lexical, OMIM:245660] synonym: "LOC syndrome" EXACT [Orphanet:2407] synonym: "LOCS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245660] synonym: "logic syndrome" EXACT [OMIM:245660, Orphanet:2407] synonym: "Shabbir syndrome" EXACT [Orphanet:2407] xref: MESH:C537032 {source="MONDO:equivalentTo"} xref: OMIM:245660 {source="Orphanet:2407/e", source="MONDO:equivalentTo", source="Orphanet:2407"} xref: Orphanet:2407 {source="OMIM:245660", source="MONDO:equivalentTo"} xref: SCTID:722675000 {source="MONDO:equivalentTo"} xref: UMLS:C1328355 {source="OMIM:245660", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2407"} is_a: MONDO:0015222 {source="Orphanet:2407"} ! syndromic respiratory or mediastinal malformation is_a: MONDO:0015930 {source="Orphanet:2407"} ! respiratory malformation is_a: MONDO:0017612 {source="Orphanet:2407"} ! junctional epidermolysis bullosa property_value: exactMatch http://identifiers.org/mesh/C537032 property_value: exactMatch http://identifiers.org/snomedct/722675000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1328355 property_value: exactMatch https://omim.org/entry/245660 property_value: exactMatch Orphanet:2407 property_value: excluded_subClassOf MONDO:0015221 {source="Orphanet:2407"} [Term] id: MONDO:0009514 name: Laurence-Moon syndrome def: "A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy." [Orphanet:2377] subset: gard_rare {source="GARD:0012635"} subset: ordo_malformation_syndrome {source="Orphanet:2377"} synonym: "Laurence-MOON syndrome" RELATED [OMIM:245800] synonym: "Laurence-Moon syndrome" EXACT [MONDO:Lexical, OMIM:245800] synonym: "Laurence-Moon-Biedl syndrome" RELATED [DOID:1930] synonym: "LMS" EXACT ABBREVIATION [Orphanet:2377] synonym: "LNMS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245800] xref: DOID:1930 {source="MONDO:equivalentTo"} xref: ICD9:253.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10056710 {source="Orphanet:2377", source="Orphanet:2377/e"} xref: MESH:D007849 {source="Orphanet:2377", source="MONDO:equivalentTo", source="Orphanet:2377/e", source="DOID:1930"} xref: NCIT:C34760 {source="MONDO:equivalentTo", source="DOID:1930"} xref: OMIM:245800 {source="Orphanet:2377", source="MONDO:equivalentTo", source="Orphanet:2377/e", source="DOID:1930"} xref: Orphanet:2377 {source="MONDO:equivalentTo", source="OMIM:245800"} xref: SCTID:232059000 {source="MONDO:equivalentTo", source="DOID:1930"} xref: SCTID:5619004 {source="DOID:1930", source="MONDO:directSiblingOf"} xref: UMLS:C0023138 {source="Orphanet:2377", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C34760", source="Orphanet:2377/e", source="DOID:1930", source="OMIM:245800"} is_a: EFO:1000017 {source="DOID:1930", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:2377"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism is_a: MONDO:0020240 {source="Orphanet:2377"} ! syndromic retinitis pigmentosa property_value: closeMatch http://identifiers.org/meddra/10056710 property_value: exactMatch DOID:1930 property_value: exactMatch http://identifiers.org/mesh/D007849 property_value: exactMatch http://identifiers.org/snomedct/232059000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023138 property_value: exactMatch https://omim.org/entry/245800 property_value: exactMatch NCIT:C34760 property_value: exactMatch Orphanet:2377 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2377"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12635/laurence-moon-syndrome xsd:anyURI {source="GARD:0012635"} [Term] id: MONDO:0009515 name: Norum disease def: "A form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." [https://orcid.org/0000-0001-5208-3432, Orphanet:79293] subset: ordo_clinical_subtype {source="Orphanet:79293"} synonym: "complete LCAT deficiency" EXACT [Orphanet:79293] synonym: "familial LCAT deficiency" RELATED [Orphanet:79293] synonym: "FLD" EXACT ABBREVIATION [Orphanet:79293] synonym: "LCAT deficiency" RELATED [OMIM:245900] synonym: "lecithin acyltransferase deficiency" EXACT [DOID:1391] synonym: "lecithin:cholesterol acyltransferase deficiency" EXACT [DOID:1391, OMIM:245900] synonym: "Norum disease" EXACT [OMIM:245900, Orphanet:79293] xref: DOID:1391 {source="MONDO:equivalentTo"} xref: NCIT:C84813 {source="MONDO:equivalentTo", source="DOID:1391"} xref: OMIM:245900 {source="MONDO:equivalentTo", source="Orphanet:79293", source="DOID:1391", source="Orphanet:79293/e"} xref: Orphanet:79293 {source="MONDO:equivalentTo", source="OMIM:245900"} xref: SCTID:238091006 {source="MONDO:equivalentTo", source="DOID:1391"} xref: UMLS:CN205883 {source="MONDO:equivalentTo"} is_a: MONDO:0001822 {source="DOID:1391"} ! hypolipoproteinemia is_a: MONDO:0018999 {source="Orphanet:79293"} ! LCAT deficiency property_value: exactMatch DOID:1391 property_value: exactMatch http://identifiers.org/snomedct/238091006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205883 property_value: exactMatch https://omim.org/entry/245900 property_value: exactMatch NCIT:C84813 property_value: exactMatch Orphanet:79293 [Term] id: MONDO:0009516 name: absence deformity of leg-cataract syndrome def: "Absence deformity of leg B cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed." [Orphanet:2310] subset: ordo_malformation_syndrome {source="Orphanet:2310"} synonym: "leg, absence deformity of, with congenital cataract" RELATED [OMIM:246000] xref: MESH:C565442 {source="MONDO:equivalentTo"} xref: OMIM:246000 {source="Orphanet:2310", source="MONDO:equivalentTo", source="Orphanet:2310/e"} xref: Orphanet:2310 {source="OMIM:246000", source="MONDO:equivalentTo"} xref: UMLS:C1855523 {source="OMIM:246000", source="Orphanet:2310", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation property_value: exactMatch http://identifiers.org/mesh/C565442 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855523 property_value: exactMatch https://omim.org/entry/246000 property_value: exactMatch Orphanet:2310 [Term] id: MONDO:0009517 name: Donohue syndrome def: "Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome) characterized by intrauterine and mainly postnatal severe growth retardation." [Orphanet:508] subset: ordo_malformation_syndrome {source="Orphanet:508"} synonym: "Donohue syndrome" EXACT [OMIM:246200, Orphanet:508] synonym: "insulin receptor, defect 1N" RELATED [OMIM:246200] synonym: "leprechaunism" EXACT [DOID:0050470, OMIM:246200] xref: DOID:0050470 {source="MONDO:equivalentTo"} xref: ICD9:259.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D056731 {source="MONDO:equivalentTo", source="DOID:0050470"} xref: NCIT:C84676 {source="MONDO:equivalentTo", source="DOID:0050470"} xref: OMIM:246200 {source="MONDO:equivalentTo", source="Orphanet:508", source="DOID:0050470", source="Orphanet:508/e"} xref: Orphanet:508 {source="OMIM:246200", source="MONDO:equivalentTo"} xref: SCTID:111307005 {source="MONDO:equivalentTo", source="DOID:0050470"} xref: SCTID:33559001 {source="DOID:0050470", source="MONDO:directSiblingOf"} xref: UMLS:C0265344 {source="OMIM:246200", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:508", source="DOID:0050470", source="NCIT:C84676", source="Orphanet:508/e"} xref: UMLS:C0271695 {source="DOID:0050470", source="MONDO:directSiblingOf"} is_a: EFO:1000017 {source="DOID:0050470", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0002254 {source="NCIT:C84676"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:508"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch DOID:0050470 property_value: exactMatch http://identifiers.org/mesh/D056731 property_value: exactMatch http://identifiers.org/snomedct/111307005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265344 property_value: exactMatch https://omim.org/entry/246200 property_value: exactMatch NCIT:C84676 property_value: exactMatch Orphanet:508 property_value: excluded_subClassOf MONDO:0005015 {source="MONDO:0015885-obsoleted"} property_value: excluded_subClassOf MONDO:0015333 {source="Orphanet:508"} property_value: excluded_subClassOf MONDO:0019280 {source="Orphanet:508"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1567 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5723 xsd:anyURI [Term] id: MONDO:0009520 name: 3-hydroxy-3-methylglutaric aciduria def: "3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae." [Orphanet:20] subset: ordo_disease {source="Orphanet:20"} synonym: "3-hydroxy-3-methylglutaric aciduria" EXACT [] synonym: "3-hydroxy-3-methylglutaryl-CoA lyase deficiency" EXACT [MONDO:Lexical, OMIM:246450, Orphanet:20] synonym: "3-OH 3-Methyl glutaric aciduria" EXACT [NCIT:C84523] synonym: "defect in leucine metabolism" RELATED [GARD:0008387] synonym: "deficiency of hydroxymethylglutaryl-CoA lyase" EXACT [NCIT:C84523] synonym: "HL deficiency" RELATED [OMIM:246450] synonym: "HMG CoA lyase deficiency" RELATED [GARD:0008387] synonym: "HMG-CoA lyase deficiency" EXACT [Orphanet:20] synonym: "HMG-Coa lyase deficiency" RELATED [OMIM:246450] synonym: "Hmgcl deficiency" RELATED [OMIM:246450] synonym: "HMGCLD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:246450] synonym: "Hydroxymethylglutaric aciduria" EXACT [OMIM:246450, Orphanet:20] synonym: "hydroxymethylglutaryl-CoA lyase deficiency" EXACT [NCIT:C84523] xref: MESH:C538324 {source="MONDO:equivalentTo"} xref: NCIT:C84523 {source="MONDO:equivalentTo"} xref: OMIM:246450 {source="Orphanet:20", source="MONDO:equivalentTo", source="Orphanet:20/e"} xref: Orphanet:20 {source="OMIM:246450", source="MONDO:equivalentTo"} xref: SCTID:410059004 {source="MONDO:equivalentTo"} xref: UMLS:C0268601 {source="Orphanet:20", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C1533587 {source="Orphanet:20", source="MONDO:equivalentTo", source="Orphanet:20/e"} is_a: MONDO:0017713 {source="Orphanet:20"} ! disorder of fatty acid oxidation and ketogenesis is_a: MONDO:0019215 {source="Orphanet:20"} ! classic organic aciduria property_value: exactMatch http://identifiers.org/mesh/C538324 property_value: exactMatch http://identifiers.org/snomedct/410059004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268601 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1533587 property_value: exactMatch https://omim.org/entry/246450 property_value: exactMatch NCIT:C84523 property_value: exactMatch Orphanet:20 [Term] id: MONDO:0009522 name: Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome def: "Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is a rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961." [Orphanet:1816] subset: ordo_malformation_syndrome {source="Orphanet:1816"} synonym: "Berlin syndrome" EXACT [Orphanet:1816] synonym: "ectodermal dysplasia, Berlin type" EXACT [Orphanet:1816] synonym: "LEUKOMELANODERMA, infantilism, intellectual disability, hypodontia, hypotrichosis" RELATED [OMIM:246500] synonym: "LEUKOMELANODERMA, infantilism, mental retardation, hypodontia, hypotrichosis" RELATED DEPRECATED [OMIM:246500] xref: MESH:C565440 {source="MONDO:equivalentTo"} xref: OMIM:246500 {source="Orphanet:1816/e", source="MONDO:equivalentTo", source="Orphanet:1816"} xref: Orphanet:1816 {source="MONDO:equivalentTo", source="OMIM:246500"} xref: SCTID:239032007 {source="MONDO:equivalentTo"} xref: UMLS:C0406729 {source="MONDO:equivalentTo"} xref: UMLS:C1855504 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:246500", source="Orphanet:1816"} is_a: MONDO:0019287 {source="Orphanet:1816"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C565440 property_value: exactMatch http://identifiers.org/snomedct/239032007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406729 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855504 property_value: exactMatch https://omim.org/entry/246500 property_value: exactMatch Orphanet:1816 [Term] id: MONDO:0009523 name: Lichtenstein syndrome def: "Lichstenstein syndrome is characterized by frequent infections associated with osteoporosis, a tendency for fractures and osseous anomalies. It has been described in two monozygotic twin brothers. Transmission is autosomal recessive." [Orphanet:2390] subset: gard_rare {source="GARD:0003248"} subset: ordo_disease {source="Orphanet:2390"} synonym: "Lichtenstein syndrome" EXACT [OMIM:246550] synonym: "neutropenia immunoglobulin deficiency peculiar facies and bony anomalies" RELATED [GARD:0003248] xref: MESH:C535894 {source="MONDO:equivalentTo"} xref: OMIM:246550 {source="Orphanet:2390/e", source="MONDO:equivalentTo", source="Orphanet:2390"} xref: Orphanet:2390 {source="OMIM:246550", source="MONDO:equivalentTo"} xref: SCTID:763668009 {source="MONDO:equivalentTo"} xref: UMLS:C1855502 {source="Orphanet:2390/e", source="OMIM:246550", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2390"} is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia property_value: exactMatch http://identifiers.org/mesh/C535894 property_value: exactMatch http://identifiers.org/snomedct/763668009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855502 property_value: exactMatch https://omim.org/entry/246550 property_value: exactMatch Orphanet:2390 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3248/lichtenstein-syndrome xsd:anyURI {source="GARD:0003248"} [Term] id: MONDO:0009524 name: intellectual disability-spasticity-ectrodactyly syndrome def: "Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet)." [Orphanet:1891] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1891"} synonym: "ectrodactyly, spastic paraplegia and intellectual disability" RELATED [GARD:0003523, MESH:C537446] synonym: "ectrodactyly, spastic paraplegia and mental retardation" RELATED DEPRECATED [GARD:0003523, MESH:C537446] synonym: "intellectual disability spasticity ectrodactyly" RELATED [GARD:0003523] synonym: "intellectual disability, spasticity and transverse limb defects" RELATED [GARD:0003523, MESH:C537446] synonym: "Jancar syndrome" EXACT [GARD:0003523, MESH:C537446, Orphanet:1891] synonym: "limb defects, distal transverse, with intellectual disability and spasticity" RELATED [OMIM:246555] synonym: "limb defects, distal transverse, with mental retardation and spasticity" RELATED DEPRECATED [OMIM:246555] synonym: "mental retardation spasticity ectrodactyly" RELATED DEPRECATED [GARD:0003523] synonym: "mental retardation, spasticity and transverse limb defects" RELATED DEPRECATED [GARD:0003523, MESH:C537446] xref: MESH:C537446 {source="MONDO:equivalentTo"} xref: OMIM:246555 {source="Orphanet:1891", source="GARD:0003523", source="MONDO:equivalentTo", source="Orphanet:1891/e"} xref: Orphanet:1891 {source="MONDO:equivalentTo", source="OMIM:246555"} xref: SCTID:763743003 {source="MONDO:equivalentTo"} xref: UMLS:C0796001 {source="Orphanet:1891", source="GARD:0003523", source="MONDO:equivalentTo", source="Orphanet:1891/e"} is_a: MONDO:0015159 {source="Orphanet:1891"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0019054 ! congenital limb malformation property_value: exactMatch http://identifiers.org/mesh/C537446 property_value: exactMatch http://identifiers.org/snomedct/763743003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796001 property_value: exactMatch https://omim.org/entry/246555 property_value: exactMatch Orphanet:1891 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1891"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3523/mental-retardation-spasticity-ectrodactyly xsd:anyURI {source="GARD:0003523"} [Term] id: MONDO:0009525 name: split hand-foot malformation 3 def: "The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate." [Orphanet:1307] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1307"} synonym: "10q24 microduplication syndrome" EXACT [Orphanet:1307] synonym: "Buttiens Fryns syndrome" RELATED [GARD:0003252] synonym: "Buttiens-Fryns syndrome" EXACT [Orphanet:1307] synonym: "chromosome 10Q24 Duplication syndrome" RELATED [OMIM:246560] synonym: "chromosome 10q24 duplication syndrome" EXACT [DOID:0090025] synonym: "distal limb deficiencies with micrognathia" EXACT [DOID:0090025] synonym: "distal limb deficiencies-micrognathia syndrome" RELATED [Orphanet:1307] synonym: "limb deficiencies distal with micrognathia" RELATED [GARD:0003252] synonym: "limb deficiencies, distal, with micrognathia" RELATED [OMIM:246560] synonym: "SHFM3" EXACT ABBREVIATION [DOID:0090025, MONDO:Lexical, OMIM:246560] synonym: "Shsf3" RELATED [OMIM:246560] synonym: "split hand-foot malformation 3" EXACT [] synonym: "split hand-foot malformation type 3" EXACT [DOID:0090025, MONDORULE:1] synonym: "split-hand/foot malformation 3" RELATED [MONDO:Lexical, OMIM:246560] synonym: "split-hand/foot malformation 3, gene duplication syndrome" EXACT [OMIM:246560, OMIM:genemap2] synonym: "split-hand/foot malformation type 3" EXACT [MONDORULE:1, OMIM:246560] xref: DOID:0090025 {source="MONDO:equivalentTo"} xref: MESH:C565437 {source="MONDO:equivalentTo"} xref: NCIT:C75121 {source="MONDO:equivalentTo"} xref: OMIM:246560 {source="Orphanet:1307/e", source="DOID:0090025", source="MONDO:equivalentTo", source="Orphanet:1307", source="GARD:0003252"} xref: Orphanet:1307 {source="OMIM:246560", source="MONDO:equivalentTo", source="GARD:0003252"} xref: SCTID:722429003 {source="MONDO:equivalentTo"} is_a: MONDO:0015160 {source="Orphanet:1307"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0016576 {source="DOID:0090025", source="NCIT:C75121", source="OMIM:246560"} ! split hand-foot malformation is_a: MONDO:0016961 {source="Orphanet:1307"} ! partial duplication of the long arm of chromosome 10 is_a: MONDO:0800090 {source="PMID:31633310"} ! ectrodactyly with and without other manifestations property_value: exactMatch DOID:0090025 property_value: exactMatch http://identifiers.org/mesh/C565437 property_value: exactMatch http://identifiers.org/snomedct/722429003 property_value: exactMatch https://omim.org/entry/246560 property_value: exactMatch NCIT:C75121 property_value: exactMatch Orphanet:1307 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3252/limb-deficiencies-distal-with-micrognathia xsd:anyURI {source="GARD:0003252"} [Term] id: MONDO:0009528 name: chylomicron retention disease def: "Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications." [Orphanet:71] subset: gard_rare {source="GARD:0009683"} subset: ordo_disease {source="Orphanet:71"} synonym: "Anderson disease" EXACT [DOID:0060357, OMIM:246700, Orphanet:71] synonym: "chylomicron retention disease" EXACT [MONDO:Lexical, OMIM:246700] synonym: "CMRD" EXACT ABBREVIATION [DOID:0060357, MONDO:Lexical, OMIM:246700, Orphanet:71] synonym: "CRD" EXACT ABBREVIATION [Orphanet:71] synonym: "hypobetalipoproteinemia with accumulation of apolipoprotein B-like Protein in intestinal cells" RELATED [OMIM:246700] synonym: "hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells" RELATED [GARD:0009683] synonym: "lipid Transport defect of intestine" RELATED [OMIM:246700] xref: DOID:0060357 {source="MONDO:equivalentTo"} xref: MESH:C535460 {source="Orphanet:71/e", source="MONDO:equivalentTo", source="DOID:0060357", source="Orphanet:71"} xref: OMIM:246700 {source="Orphanet:71/e", source="MONDO:equivalentTo", source="DOID:0060357", source="Orphanet:71"} xref: Orphanet:71 {source="MONDO:equivalentTo", source="DOID:0060357", source="OMIM:246700"} xref: SCTID:702364003 {source="MONDO:equivalentTo", source="DOID:0060357"} xref: UMLS:C0795956 {source="Orphanet:71/e", source="MONDO:equivalentTo", source="DOID:0060357", source="MONDO:ncbi_mim2gene_medline", source="OMIM:246700", source="Orphanet:71"} is_a: MONDO:0017774 {source="MESH:C535460", source="Orphanet:71"} ! hypobetalipoproteinemia property_value: exactMatch DOID:0060357 property_value: exactMatch http://identifiers.org/mesh/C535460 property_value: exactMatch http://identifiers.org/snomedct/702364003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795956 property_value: exactMatch https://omim.org/entry/246700 property_value: exactMatch Orphanet:71 property_value: excluded_subClassOf MONDO:0005020 {source="MONDO:Redundant", source="Orphanet:71", source="Orphanet:71/inferred"} property_value: excluded_subClassOf MONDO:0015180 {source="Orphanet:71"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9683/chylomicron-retention-disease xsd:anyURI {source="GARD:0009683"} [Term] id: MONDO:0009529 name: pyruvate dehydrogenase E3 deficiency def: "Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." [Orphanet:2394] subset: ordo_clinical_subtype {source="Orphanet:2394"} synonym: "dihydrolipoamide dehydrogenase deficiency" EXACT [MONDO:Lexical, OMIM:246900, Orphanet:2394] synonym: "DLD deficiency" EXACT [Orphanet:2394] synonym: "Dld deficiency" RELATED [OMIM:246900] synonym: "DLDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:246900] synonym: "E3 deficiency" RELATED [OMIM:246900] synonym: "E3-deficient maple syrup urine disease" EXACT [Orphanet:2394] synonym: "lipoamide dehydrogenase deficiency, lactic acidosis due to" RELATED [OMIM:246900] synonym: "maple syrup urine disease, type 3" RELATED [OMIM:246900] synonym: "maple syrup urine disease, type III" RELATED [GARD:0003263] synonym: "pyruvate dehydrogenase E3 deficiency" EXACT [] xref: OMIM:246900 {source="Orphanet:2394/e", source="MONDO:equivalentTo", source="Orphanet:2394"} xref: Orphanet:2394 {source="MONDO:equivalentTo", source="OMIM:246900"} xref: SCTID:29914000 {source="MONDO:equivalentTo"} xref: UMLS:C0268193 {source="MONDO:equivalentTo", source="OMIM:246900"} xref: UMLS:CN043137 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0009563 {source="DC-OMIM:246900", source="OMIM:246900"} ! maple syrup urine disease is_a: MONDO:0018424 {source="Orphanet:2394"} ! inherited lipoic acid biosynthesis defect is_a: MONDO:0019169 {source="Orphanet:2394"} ! pyruvate dehydrogenase deficiency is_a: MONDO:0019213 ! cerebral organic aciduria property_value: exactMatch http://identifiers.org/snomedct/29914000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268193 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN043137 property_value: exactMatch https://omim.org/entry/246900 property_value: exactMatch Orphanet:2394 property_value: excluded_subClassOf MONDO:0009637 {source="Orphanet:2394"} [Term] id: MONDO:0009530 name: lipoid proteinosis def: "Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications." [Orphanet:530] subset: ordo_malformation_syndrome {source="Orphanet:530"} synonym: "hyalinosis cutis Et mucosae" RELATED [OMIM:247100] synonym: "hyalinosis cutis et mucosae" EXACT [Orphanet:530] synonym: "lipid proteinosis" EXACT [DOID:14498] synonym: "lipoid proteinosis" EXACT [DOID:14498, OMIM:247100] synonym: "lipoid proteinosis of Urbach and Wiethe" RELATED [OMIM:247100] synonym: "lipoproteinosis" EXACT [NCIT:C84829] synonym: "Urbach Wiethe disease" RELATED [GARD:0003268] synonym: "Urbach-Wiethe disease" EXACT [DOID:14498, OMIM:247100, Orphanet:530] xref: DOID:14498 {source="MONDO:equivalentTo"} xref: ICD9:272.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D008065 {source="MONDO:equivalentTo", source="DOID:14498"} xref: NCIT:C84829 {source="MONDO:equivalentTo", source="DOID:14498"} xref: OMIM:247100 {source="Orphanet:530/e", source="MONDO:equivalentTo", source="DOID:14498", source="Orphanet:530"} xref: Orphanet:530 {source="OMIM:247100", source="MONDO:equivalentTo"} xref: SCTID:38692000 {source="MONDO:equivalentTo", source="DOID:14498"} xref: UMLS:C0023795 {source="OMIM:247100", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C84829", source="DOID:14498", source="Orphanet:530"} is_a: MONDO:0002525 ! inherited lipid metabolism disorder is_a: MONDO:0021154 {source="Orphanet:530"} ! dermis disorder is_a: MONDO:0100118 ! hereditary skin disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0015123"} ! rare property_value: exactMatch DOID:14498 property_value: exactMatch http://identifiers.org/mesh/D008065 property_value: exactMatch http://identifiers.org/snomedct/38692000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023795 property_value: exactMatch https://omim.org/entry/247100 property_value: exactMatch NCIT:C84829 property_value: exactMatch Orphanet:530 [Term] id: MONDO:0009532 name: Miller-Dieker lissencephaly syndrome def: "A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip." [NCIT:C124852] subset: ordo_malformation_syndrome {source="Orphanet:531"} synonym: "chromosome 17P13.3 deletion syndrome" RELATED [OMIM:247200] synonym: "lissencephaly due to 17p13.3 deletion" EXACT [Orphanet:531] synonym: "MDLS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:247200] synonym: "Miller-Dieker lissencephaly syndrome" EXACT [MONDO:Lexical, OMIM:247200] synonym: "Miller-Dieker syndrome" EXACT [DOID:0060469] synonym: "Miller-Dieker syndrome chromosome region" RELATED [OMIM:247200] synonym: "monosomy 17p13.3" EXACT [Orphanet:531] synonym: "telomeric deletion 17p" EXACT [Orphanet:531] xref: DECIPHER:21 {source="MONDO:equivalentTo"} xref: DOID:0060469 {source="MONDO:equivalentTo"} xref: ICD9:758.33 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10068361 {source="Orphanet:531/e", source="Orphanet:531"} xref: NCIT:C124852 {source="MONDO:equivalentTo"} xref: OMIM:247200 {source="Orphanet:531/e", source="MONDO:equivalentTo", source="DOID:0060469", source="Orphanet:531"} xref: Orphanet:531 {source="OMIM:247200", source="MONDO:equivalentTo", source="DOID:0060469"} xref: SCTID:253148005 {source="MONDO:equivalentTo"} xref: UMLS:C0265219 {source="Orphanet:531/e", source="OMIM:247200", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:0060469", source="NCIT:C124852", source="Orphanet:531"} is_a: MONDO:0002254 {source="DOID:0060469", source="MONDO:Redundant", source="NCIT:C124852"} ! syndromic disease is_a: MONDO:0015146 {source="Orphanet:531"} ! classic lissencephaly is_a: MONDO:0022754 {source="Orphanet:531"} ! chromosome 17p deletion property_value: closeMatch http://identifiers.org/meddra/10068361 property_value: exactMatch DOID:0060469 property_value: exactMatch http://identifiers.org/snomedct/253148005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265219 property_value: exactMatch https://omim.org/entry/247200 property_value: exactMatch NCIT:C124852 property_value: exactMatch Orphanet:531 property_value: excluded_subClassOf MONDO:0005027 {source="MONDO:0015652-obsoleted"} [Term] id: MONDO:0009533 name: Dahlberg-Borer-Newcomer syndrome def: "Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." [Orphanet:1563] subset: gard_rare {source="GARD:0000237"} subset: ordo_malformation_syndrome {source="Orphanet:1563"} synonym: "Dahlberg Borer Newcomer syndrome" RELATED [GARD:0000237] synonym: "Dahlberg syndrome" EXACT [Orphanet:1563] synonym: "hypoparathyroidism lymphedema syndrome" RELATED [GARD:0000237] synonym: "hypoparathyroidism-lymphedema syndrome" RELATED [OMIM:247410] synonym: "lymphedema hypoparathyroidism syndrome" RELATED [GARD:0000237] synonym: "lymphedema-hypoparathyroidism syndrome" EXACT [OMIM:247410, Orphanet:1563] xref: MESH:C535769 {source="Orphanet:1563", source="MONDO:equivalentTo", source="Orphanet:1563/e"} xref: OMIM:247410 {source="Orphanet:1563", source="MONDO:equivalentTo", source="Orphanet:1563/e"} xref: Orphanet:1563 {source="OMIM:247410", source="MONDO:equivalentTo"} xref: SCTID:721083007 {source="MONDO:equivalentTo"} xref: UMLS:C1855477 {source="Orphanet:1563", source="OMIM:247410", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1563/e"} is_a: MONDO:0015161 {source="Orphanet:1563"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0019287 {source="Orphanet:1563"} ! ectodermal dysplasia syndrome is_a: MONDO:0019313 ! lymphatic malformation is_a: MONDO:0019520 {source="MONDO:Redundant", source="Orphanet:1563"} ! syndromic lymphedema property_value: exactMatch http://identifiers.org/mesh/C535769 property_value: exactMatch http://identifiers.org/snomedct/721083007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855477 property_value: exactMatch https://omim.org/entry/247410 property_value: exactMatch Orphanet:1563 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/237/dahlberg-borer-newcomer-syndrome xsd:anyURI {source="GARD:0000237"} [Term] id: MONDO:0009543 name: prominent glabella-microcephaly-hypogenitalism syndrome def: "Prominent glabella B microcephaly B hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions." [Orphanet:2083] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2083"} synonym: "Mac Dermot Winter syndrome" RELATED [GARD:0000144] synonym: "MacDermot-Winter syndrome" EXACT [GARD:0000144, OMIM:247990, Orphanet:2083] synonym: "prominent glabella microcephaly hypogenitalism" RELATED [GARD:0000144] xref: MESH:C537714 {source="MONDO:equivalentTo"} xref: OMIM:247990 {source="Orphanet:2083/e", source="GARD:0000144", source="MONDO:equivalentTo", source="Orphanet:2083"} xref: Orphanet:2083 {source="GARD:0000144", source="OMIM:247990", source="MONDO:equivalentTo"} xref: UMLS:C0796024 {source="Orphanet:2083/e", source="GARD:0000144", source="OMIM:247990", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2083"} is_a: MONDO:0015159 {source="Orphanet:2083"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C537714 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796024 property_value: exactMatch https://omim.org/entry/247990 property_value: exactMatch Orphanet:2083 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2083"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/144/mac-dermot-winter-syndrome xsd:anyURI {source="GARD:0000144"} [Term] id: MONDO:0009544 name: macrocephaly/megalencephaly syndrome, autosomal recessive subset: gard_rare synonym: "Fryns Dereymaeker Haegeman syndrome" RELATED [GARD:0000148] synonym: "intellectual disability, macrocephaly, short stature and craniofacial dysmorphism" RELATED [GARD:0000148] synonym: "macrocephaly/megalencephaly syndrome, autosomal recessive" EXACT [MONDO:Lexical, OMIM:248000] synonym: "mental retardation, macrocephaly, short stature and craniofacial dysmorphism" RELATED DEPRECATED [GARD:0000148] synonym: "MGCPH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248000] xref: MESH:C537453 {source="MONDO:equivalentTo"} xref: OMIM:248000 {source="MONDO:equivalentTo", source="GARD:0000148"} xref: UMLS:C3806412 {source="OMIM:248000", source="MONDO:equivalentTo"} is_a: MONDO:0016608 {source="MESH:C537453", source="Orphanet:2477/btnt"} ! megalencephaly property_value: exactMatch http://identifiers.org/mesh/C537453 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3806412 property_value: exactMatch https://omim.org/entry/248000 [Term] id: MONDO:0009547 name: macrosomia-microphthalmia-cleft palate syndrome def: "Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989." [Orphanet:2432] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2432"} synonym: "macrosomia microphthalmia cleft palate" RELATED [GARD:0000177] synonym: "macrosomia with lethal microphthalmia" RELATED [GARD:0000177] synonym: "macrosomia with microphthalmia, lethal" RELATED [OMIM:248110] synonym: "Teebi Al-Saleh Hassoon syndrome" RELATED [GARD:0000177] synonym: "Teebi-Al Saleh-Hassoon syndrome" EXACT [Orphanet:2432] xref: MESH:C537830 {source="MONDO:equivalentTo"} xref: OMIM:248110 {source="Orphanet:2432", source="GARD:0000177", source="MONDO:equivalentTo", source="Orphanet:2432/e"} xref: Orphanet:2432 {source="OMIM:248110", source="GARD:0000177", source="MONDO:equivalentTo"} xref: UMLS:C1855467 {source="OMIM:248110", source="Orphanet:2432", source="GARD:0000177", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2432/e"} is_a: MONDO:0015161 {source="Orphanet:2432"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability property_value: exactMatch http://identifiers.org/mesh/C537830 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855467 property_value: exactMatch https://omim.org/entry/248110 property_value: exactMatch Orphanet:2432 [Term] id: MONDO:0009548 name: renal hypomagnesemia 5 with ocular involvement def: "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities." [Orphanet:2196] subset: gard_rare subset: ordo_disease {source="Orphanet:2196"} synonym: "bilateral macular coloboma with hypercalciuria" EXACT [DOID:0060881] synonym: "familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement" EXACT [DOID:0060881] synonym: "familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement" RELATED [Orphanet:2196] synonym: "FHHNC with severe ocular involvement" EXACT [DOID:0060881, OMIM:248190, Orphanet:2196] synonym: "FHHNCOI" EXACT ABBREVIATION [MONDO:cjm] synonym: "HOMG5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248190] synonym: "hypercalciuria-bilateral macular coloboma syndrome" EXACT [DOID:0060881, Orphanet:2196] synonym: "hypomagnesemia 5, renal, with ocular involvement" RELATED [MONDO:Lexical, OMIM:248190] synonym: "hypomagnesemia, familial, with hypercalciuria, nephrocalcinosis, and severe ocular involvement" RELATED [OMIM:248190] synonym: "hypomagnesemia, renal, with ocular involvement" RELATED [OMIM:248190] synonym: "idiopathic hypercalciuria with bilateral macular colobomata" RELATED [GARD:0003451, MESH:C536148] synonym: "macular coloboma, bilateral, with hypercalciuria" RELATED [OMIM:248190] synonym: "Meier Blumberg Imahorn syndrome" RELATED [GARD:0003451] synonym: "Meier-Blumberg-Imahorn syndrome" EXACT [DOID:0060881, Orphanet:2196] xref: DOID:0060881 {source="MONDO:equivalentTo"} xref: MESH:C536148 {source="MONDO:equivalentTo"} xref: OMIM:248190 {source="DOID:0060881", source="Orphanet:2196/e", source="MONDO:equivalentTo", source="GARD:0003451", source="Orphanet:2196"} xref: Orphanet:2196 {source="DOID:0060881", source="MONDO:equivalentTo", source="OMIM:248190"} is_a: MONDO:0017624 {source="Orphanet:2196"} ! familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis is_a: MONDO:0020242 {source="MONDO:0020243-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! hereditary macular dystrophy property_value: exactMatch DOID:0060881 property_value: exactMatch http://identifiers.org/mesh/C536148 property_value: exactMatch https://omim.org/entry/248190 property_value: exactMatch Orphanet:2196 property_value: excluded_subClassOf MONDO:0010645 {source="MESH:C536148"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3451/meier-blumberg-imahorn-syndrome xsd:anyURI {source="GARD:0003451"} [Term] id: MONDO:0009549 name: severe early-childhood-onset retinal dystrophy def: "Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy, characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years. An overlap with Leber congenital amaurosis (LCA) occurs when patients are characterized by their visual acuity and panretinal dystrophy." [Orphanet:364055] subset: ordo_disease {source="Orphanet:364055"} synonym: "early-onset severe retinal dystrophy" EXACT [Orphanet:364055] synonym: "EOSRD" EXACT ABBREVIATION [Orphanet:364055] synonym: "fundus flavimaculatus" RELATED [OMIM:248200] synonym: "macular Degeneration, juvenile" RELATED [OMIM:248200] synonym: "macular dystrophy with flecks, type 1" RELATED [OMIM:248200] synonym: "retinal dystrophy, early-onset severe" RELATED [OMIM:248200] synonym: "SECORD" EXACT ABBREVIATION [Orphanet:364055] synonym: "Stargardt disease 1" RELATED [MONDO:Lexical, OMIM:248200] synonym: "Stargardt disease type 1" EXACT [MONDORULE:1, OMIM:248200] synonym: "Stgd" RELATED [OMIM:248200] synonym: "STGD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248200] xref: ICD10CM:H35.5 {source="Orphanet:364055", source="MONDO:relatedTo", source="Orphanet:364055/attributed", source="Orphanet:364055/ntbt"} xref: OMIM:248200 {source="MONDO:equivalentTo"} xref: Orphanet:364055 {source="MONDO:equivalentTo"} xref: SCTID:716663009 {source="MONDO:equivalentTo"} is_a: MONDO:0019353 {source="DC-OMIM:248200"} ! Stargardt disease is_a: MONDO:0800406 {source="https://clinicalgenome.org/affiliation/40072/"} ! ABCA4-related retinopathy property_value: exactMatch http://identifiers.org/snomedct/716663009 property_value: exactMatch https://omim.org/entry/248200 property_value: exactMatch Orphanet:364055 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5693 xsd:anyURI [Term] id: MONDO:0009550 name: renal hypomagnesemia 3 def: "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure." [Orphanet:31043] subset: ordo_disease {source="Orphanet:31043"} synonym: "CLDN16 familial primary hypomagnesemia" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "CLDN16 primary hypomagnesemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial primary hypomagnesemia caused by mutation in CLDN16" EXACT [] synonym: "familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement" EXACT [DOID:0060880] synonym: "FHHNC without severe ocular involvement" EXACT [DOID:0060880, Orphanet:31043] synonym: "HOMG3" EXACT ABBREVIATION [DOID:0060880, MESH:C537153, MONDO:Lexical, OMIM:248250, Orphanet:31043] synonym: "hypercalciuria, childhood, self-limiting" RELATED [OMIM:248250] synonym: "hypomagnesemia 3, renal" RELATED [MESH:C537153, MONDO:Lexical, OMIM:248250] synonym: "hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis" RELATED [MESH:C537153, OMIM:248250] synonym: "hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis hypercalciuria, childhood, self-limiting, included" RELATED [MESH:C537153] synonym: "hypomagnesemia, isolated renal" RELATED [MESH:C537153, OMIM:248250] synonym: "hypomagnesemia, primary, due to defect in renal tubular Transport Of magnesium" RELATED [MESH:C537153] synonym: "hypomagnesemia, primary, due to defect in renal tubular Transport of magnesium" RELATED [OMIM:248250] synonym: "isolated renal hypomagnesemia" EXACT [DOID:0060880] synonym: "magnesium, defect in renal tubular transport of" RELATED [MESH:C537153] synonym: "primary hypomagnesemia caused by mutation in CLDN16" EXACT [MONDO:design_pattern] synonym: "primary hypomagnesemia due to defect in renal tubular transport of magnesium" EXACT [DOID:0060880] synonym: "renal hypomagnesemia type 3" EXACT [DOID:0060880, MONDORULE:1, Orphanet:31043] xref: DOID:0060880 {source="MONDO:equivalentTo"} xref: MESH:C537153 {source="MONDO:equivalentTo"} xref: OMIM:248250 {source="DOID:0060880", source="Orphanet:31043/e", source="MONDO:equivalentTo", source="Orphanet:31043"} xref: Orphanet:31043 {source="DOID:0060880", source="MONDO:equivalentTo", source="OMIM:248250"} xref: SCTID:725033008 {source="MONDO:equivalentTo"} is_a: EFO:1000647 {source="MESH:C537153"} ! renal tubular transport disease is_a: MONDO:0001567 {source="MESH:C537153"} ! nephrocalcinosis is_a: MONDO:0017624 {source="Orphanet:31043"} ! familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis property_value: exactMatch DOID:0060880 property_value: exactMatch http://identifiers.org/mesh/C537153 property_value: exactMatch http://identifiers.org/snomedct/725033008 property_value: exactMatch https://omim.org/entry/248250 property_value: exactMatch Orphanet:31043 [Term] id: MONDO:0009552 name: mal de Meleda def: "Mal de Melada (MdM) is a diffuse palmoplantar keratoderma initially reported from of the Island of Meleda characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgradiens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema." [Orphanet:87503] subset: gard_rare subset: ordo_disease {source="Orphanet:87503"} synonym: "keratosis palmoplantaris transgradiens of Siemens" RELATED [GARD:0000092] synonym: "keratosis palmoplantaris transgrediens of Siemens" EXACT [DOID:0060862, OMIM:248300, Orphanet:87503] synonym: "MAL DE Meleda" RELATED [OMIM:248300] synonym: "mal de Meleda" EXACT [GARD:0000092, MONDO:Lexical, OMIM:248300] synonym: "MDM" RELATED ABBREVIATION [GARD:0000092, MONDO:Lexical, OMIM:248300] synonym: "Meleda disease" EXACT [DOID:0060862, OMIM:248300, Orphanet:87503] synonym: "transgrediens palmoplantar keratoderma of Siemens" EXACT [DOID:0060862, Orphanet:87503] xref: DOID:0060862 {source="MONDO:equivalentTo"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:248300 {source="DOID:0060862", source="Orphanet:87503", source="MONDO:equivalentTo", source="Orphanet:87503/e", source="GARD:0000092"} xref: Orphanet:87503 {source="DOID:0060862", source="OMIM:248300", source="MONDO:equivalentTo", source="GARD:0000092"} xref: SCTID:239069005 {source="MONDO:equivalentTo"} xref: UMLS:C0025221 {source="Orphanet:87503", source="OMIM:248300", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="GARD:0000092"} is_a: MONDO:0020096 {source="Orphanet:87503"} ! autosomal recessive isolated diffuse palmoplantar keratoderma property_value: exactMatch DOID:0060862 property_value: exactMatch http://identifiers.org/snomedct/239069005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025221 property_value: exactMatch https://omim.org/entry/248300 property_value: exactMatch Orphanet:87503 [Term] id: MONDO:0009556 name: malonic aciduria def: "Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD)." [Orphanet:943] subset: ordo_disease {source="Orphanet:943"} synonym: "malonic acidemia" RELATED [GARD:0003371] synonym: "malonic aciduria" EXACT [] synonym: "Malonicaciduria" RELATED [GARD:0003371] synonym: "malonyl-CoA decarboxylase deficiency" EXACT [OMIM:248360, Orphanet:943] synonym: "MCD deficiency" RELATED [GARD:0003371] xref: MESH:C535702 {source="Orphanet:943", source="MONDO:equivalentTo", source="Orphanet:943/e"} xref: OMIM:248360 {source="Orphanet:943", source="MONDO:equivalentTo", source="Orphanet:943/e"} xref: Orphanet:943 {source="MONDO:equivalentTo", source="OMIM:248360"} xref: SCTID:361203007 {source="MONDO:equivalentTo"} xref: UMLS:C0342793 {source="Orphanet:943", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:943/e", source="OMIM:248360"} is_a: MONDO:0000688 {source="PMID:33340416"} ! inborn organic aciduria property_value: exactMatch http://identifiers.org/mesh/C535702 property_value: exactMatch http://identifiers.org/snomedct/361203007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342793 property_value: exactMatch https://omim.org/entry/248360 property_value: exactMatch Orphanet:943 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0009557 name: mandibuloacral dysplasia with type A lipodystrophy def: "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." [NCIT:C123417] subset: gard_rare {source="GARD:0003374"} subset: ordo_clinical_subtype {source="Orphanet:90153"} synonym: "craniomandibular Dermatodysostosis" RELATED [OMIM:248370] synonym: "lipodystrophy, type A, associated with Mandibuloacral dysplasia" RELATED [OMIM:248370] synonym: "MADA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248370] synonym: "mandibuloacral dysplasia" BROAD [OMIM:248370, OMIM:genemap2] synonym: "MANDIBULOACRAL dysplasia with type A lipodystrophy" RELATED [OMIM:248370] synonym: "mandibuloacral dysplasia with type A lipodystrophy" EXACT [MONDO:Lexical, OMIM:248370] synonym: "Mandibuloacral dysplasia with type a lipodystrophy, atypical" RELATED [OMIM:248370] xref: DOID:0081128 {source="MONDO:equivalentTo"} xref: MESH:C535705 {source="Orphanet:90153", source="MONDO:equivalentTo", source="Orphanet:90153/e"} xref: NCIT:C123417 {source="MONDO:equivalentTo"} xref: OMIM:248370 {source="Orphanet:90153", source="MONDO:equivalentTo", source="Orphanet:90153/e"} xref: Orphanet:90153 {source="MONDO:equivalentTo", source="OMIM:248370"} xref: SCTID:109419009 {source="MONDO:equivalentTo"} xref: UMLS:CN206381 {source="MONDO:equivalentTo"} xref: UMLS:CN236772 {source="MONDO:equivalentTo"} is_a: MONDO:0016584 {source="DC-OMIM:248370", source="OMIM:248370", source="Orphanet:90153"} ! mandibuloacral dysplasia is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy property_value: exactMatch DOID:0081128 property_value: exactMatch http://identifiers.org/mesh/C535705 property_value: exactMatch http://identifiers.org/snomedct/109419009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206381 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN236772 property_value: exactMatch https://omim.org/entry/248370 property_value: exactMatch NCIT:C123417 property_value: exactMatch Orphanet:90153 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3374/mandibuloacral-dysplasia-with-type-a-lipodystrophy xsd:anyURI {source="GARD:0003374"} [Term] id: MONDO:0009559 name: mandibulofacial dysostosis with mental deficiency synonym: "mandibulofacial dysostosis with intellectual disability" RELATED [OMIM:248400] synonym: "mandibulofacial dysostosis with mental deficiency" EXACT [OMIM:248400] synonym: "mandibulofacial dysostosis with mental retardation" RELATED DEPRECATED [OMIM:248400] xref: MESH:C565420 {source="MONDO:equivalentTo"} xref: OMIM:248400 {source="MONDO:equivalentTo"} xref: UMLS:C1855432 {source="OMIM:248400", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C565420 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855432 property_value: exactMatch https://omim.org/entry/248400 [Term] id: MONDO:0009560 name: oculotrichoanal syndrome subset: ordo_malformation_syndrome {source="Orphanet:2717"} synonym: "MANITOBA oculotrichoanal syndrome" RELATED [MONDO:Lexical, OMIM:248450] synonym: "Manitoba oculotrichoanal syndrome" EXACT [Orphanet:2717] synonym: "Manitoba Trichoanal syndrome" RELATED [GARD:0003395] synonym: "Marles syndrome" EXACT [OMIM:248450, Orphanet:2717] synonym: "Marles-Greenberg-Persaud syndrome" EXACT [Orphanet:2717] synonym: "MOTA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248450] synonym: "MOTA syndrome" EXACT [Orphanet:2717] synonym: "unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies" RELATED [GARD:0003395] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536022 {source="MONDO:equivalentTo"} xref: OMIM:248450 {source="Orphanet:2717/e", source="MONDO:equivalentTo", source="Orphanet:2717"} xref: Orphanet:2717 {source="OMIM:248450", source="MONDO:equivalentTo"} xref: SCTID:703539006 {source="MONDO:equivalentTo"} xref: UMLS:C1855425 {source="OMIM:248450", source="Orphanet:2717/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2717"} is_a: MONDO:0015160 {source="Orphanet:2717"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C536022 property_value: exactMatch http://identifiers.org/snomedct/703539006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855425 property_value: exactMatch https://omim.org/entry/248450 property_value: exactMatch Orphanet:2717 [Term] id: MONDO:0009561 name: alpha-mannosidosis def: "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." [Orphanet:61] subset: gard_rare {source="GARD:0006968"} subset: ordo_disease {source="Orphanet:61"} synonym: "Alpha mannosidase B deficiency" RELATED [GARD:0006968] synonym: "Alpha-D-mannosidosis" EXACT [DOID:3413] synonym: "Alpha-mannosidase B deficiency" RELATED [OMIM:248500] synonym: "alpha-mannosidase deficiency" EXACT [DOID:3413] synonym: "alpha-mannosidosis" EXACT [OMIM:248500] synonym: "deficiency of alpha-mannosidase" EXACT [DOID:3413] synonym: "lysosomal Alpha-D-mannosidase deficiency" RELATED [OMIM:248500] synonym: "lysosomal alpha-D-mannosidase deficiency" EXACT [Orphanet:61] synonym: "mannosidosis, alpha B lysosomal" RELATED [GARD:0006968] synonym: "mannosidosis, ALPHA B, lysosomal" RELATED [MONDO:Lexical, OMIM:248500] synonym: "mannosidosis, alpha-, types I and II" EXACT [OMIM:248500, OMIM:genemap2] synonym: "MANSA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248500] xref: DOID:3413 {source="MONDO:equivalentTo"} xref: ICD9:271.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D008363 {source="Orphanet:61/e", source="MONDO:equivalentTo", source="DOID:3413", source="Orphanet:61"} xref: NCIT:C84548 {source="MONDO:equivalentTo", source="DOID:3413"} xref: OMIM:248500 {source="Orphanet:61/e", source="MONDO:equivalentTo", source="DOID:3413", source="Orphanet:61"} xref: Orphanet:61 {source="MONDO:equivalentTo", source="OMIM:248500"} xref: SCTID:65524005 {source="MONDO:equivalentTo", source="DOID:3413"} xref: UMLS:C0024748 {source="NCIT:C84548", source="Orphanet:61/e", source="MONDO:equivalentTo", source="DOID:3413", source="MONDO:ncbi_mim2gene_medline", source="OMIM:248500", source="Orphanet:61"} is_a: EFO:0003966 ! eye disease is_a: MONDO:0019251 {source="Orphanet:61"} ! oligosaccharidosis is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement relationship: disease_has_feature EFO:0000589 ! metabolic disease property_value: exactMatch DOID:3413 property_value: exactMatch http://identifiers.org/mesh/D008363 property_value: exactMatch http://identifiers.org/snomedct/65524005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024748 property_value: exactMatch https://omim.org/entry/248500 property_value: exactMatch NCIT:C84548 property_value: exactMatch Orphanet:61 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6968/alpha-mannosidosis xsd:anyURI {source="GARD:0006968"} [Term] id: MONDO:0009562 name: beta-mannosidosis def: "Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity." [Orphanet:118] subset: ordo_disease {source="Orphanet:118"} synonym: "Beta-D-mannosidosis" EXACT [DOID:3633] synonym: "Beta-mannosidase deficiency" EXACT [OMIM:248510, Orphanet:118] synonym: "beta-mannosidase deficiency" EXACT [DOID:3633] synonym: "beta-mannosidosis" EXACT [OMIM:248510] synonym: "lysosomal Beta-mannosidase deficiency" RELATED [OMIM:248510] synonym: "lysosomal beta-mannosidase deficiency" EXACT [DOID:3633] synonym: "mannosidosis, beta" EXACT [OMIM:248510, OMIM:genemap2] synonym: "mannosidosis, BETA A, lysosomal" RELATED [MONDO:Lexical, OMIM:248510] synonym: "MANSB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248510] xref: DOID:3633 {source="MONDO:equivalentTo"} xref: ICD9:271.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D044905 {source="Orphanet:118", source="MONDO:equivalentTo", source="DOID:3633", source="Orphanet:118/e"} xref: NCIT:C84596 {source="MONDO:equivalentTo", source="DOID:3633"} xref: OMIM:248510 {source="Orphanet:118", source="MONDO:equivalentTo", source="DOID:3633", source="Orphanet:118/e"} xref: Orphanet:118 {source="OMIM:248510", source="MONDO:equivalentTo"} xref: SCTID:238047006 {source="MONDO:equivalentTo", source="DOID:3633"} xref: UMLS:C4048196 {source="MONDO:equivalentTo", source="DOID:3633"} is_a: MONDO:0019251 {source="Orphanet:118"} ! oligosaccharidosis is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement property_value: exactMatch DOID:3633 property_value: exactMatch http://identifiers.org/mesh/D044905 property_value: exactMatch http://identifiers.org/snomedct/238047006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4048196 property_value: exactMatch https://omim.org/entry/248510 property_value: exactMatch NCIT:C84596 property_value: exactMatch Orphanet:118 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0009563 name: maple syrup urine disease def: "An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death." [NCIT:P378] comment: Editor note: genetic subtypes rolled into one OMIM entry. GARD treats as distinct subset: ordo_disease {source="Orphanet:511"} subset: prototype_pattern synonym: "BCKD deficiency" EXACT [Orphanet:511] synonym: "BCKDH deficiency" EXACT [Orphanet:511] synonym: "branched chain ketoaciduria" EXACT [DOID:9269] synonym: "branched-chain 2-ketoacid dehydrogenase deficiency" EXACT [Orphanet:511] synonym: "branched-chain Alpha-Keto acid dehydrogenase deficiency" RELATED [OMIM:248600] synonym: "branched-chain ketoaciduria" EXACT [OMIM:248600, Orphanet:511] synonym: "dihydrolipoamide dehydrogenase deficiency" RELATED [DOID:9269, OMIM:246900] synonym: "Keto acid decarboxylase deficiency" RELATED [OMIM:248600] synonym: "Ketoacidaemia" EXACT [DOID:9269] synonym: "maple syrup urine disease" EXACT [MONDO:Lexical, OMIM:248600] synonym: "maple syrup urine disease, classic" RELATED [OMIM:248600] synonym: "maple syrup urine disease, Intermediate" RELATED [OMIM:248600] synonym: "maple syrup urine disease, intermittent" RELATED [OMIM:248600] synonym: "maple syrup urine disease, thiamine-responsive" RELATED [OMIM:248600] synonym: "maple syrup urine disease, type 1A" NARROW [OMIM:248600] synonym: "maple syrup urine disease, type 1B" NARROW [OMIM:248600] synonym: "maple syrup urine disease, type 2" NARROW [OMIM:248600] synonym: "maple syrup urine disease, type IA" EXACT [OMIM:248600, OMIM:genemap2] synonym: "maple syrup urine disease, type IB" EXACT [OMIM:248600, OMIM:genemap2] synonym: "maple syrup urine disease, type II" EXACT [OMIM:248600, OMIM:genemap2] synonym: "MSUD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:248600, Orphanet:511] xref: DOID:9269 {source="MONDO:equivalentTo"} xref: ICD10CM:E71.0 {source="Orphanet:511", source="MONDO:equivalentTo", source="Orphanet:511/e", source="DOID:9269", source="Orphanet:511/specific"} xref: MedDRA:10026817 {source="Orphanet:511", source="Orphanet:511/e"} xref: MESH:D008375 {source="Orphanet:511", source="MONDO:equivalentTo", source="Orphanet:511/e", source="DOID:9269"} xref: NCIT:C34806 {source="MONDO:equivalentTo", source="DOID:9269"} xref: OMIM:248600 {source="Orphanet:511", source="MONDO:equivalentTo", source="Orphanet:511/e", source="DOID:9269"} xref: OMIMPS:248600 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:511 {source="MONDO:equivalentTo", source="OMIM:248600", source="DOID:9269"} xref: SCTID:27718001 {source="MONDO:equivalentTo", source="DOID:9269"} xref: UMLS:C0024776 {source="Orphanet:511", source="NCIT:C34806", source="MONDO:equivalentTo", source="OMIM:248600", source="Orphanet:511/e", source="MONDO:ncbi_mim2gene_medline", source="DOID:9269"} is_a: MONDO:0000688 {source="DOID:9269"} ! inborn organic aciduria is_a: MONDO:0019242 {source="Orphanet:511"} ! inborn disorder of branched-chain amino acid metabolism property_value: closeMatch http://identifiers.org/meddra/10026817 property_value: exactMatch DOID:9269 property_value: exactMatch http://identifiers.org/mesh/D008375 property_value: exactMatch http://identifiers.org/snomedct/27718001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024776 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E71.0 property_value: exactMatch https://omim.org/entry/248600 property_value: exactMatch https://omim.org/phenotypicSeries/PS248600 property_value: exactMatch NCIT:C34806 property_value: exactMatch Orphanet:511 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009564 name: Marden-Walker syndrome def: "Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly." [Orphanet:2461] subset: ordo_malformation_syndrome {source="Orphanet:2461"} synonym: "connective tissue disorder Marden Walker type" RELATED [GARD:0006973] synonym: "MARDEN-WALKER syndrome" RELATED [OMIM:248700] synonym: "Marden-Walker syndrome" EXACT [MONDO:Lexical, OMIM:248700] synonym: "MWKS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248700] synonym: "Mws" RELATED [OMIM:248700] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535910 {source="Orphanet:2461/e", source="MONDO:equivalentTo", source="Orphanet:2461"} xref: OMIM:248700 {source="Orphanet:2461/e", source="MONDO:equivalentTo", source="Orphanet:2461"} xref: Orphanet:2461 {source="MONDO:equivalentTo", source="OMIM:248700"} xref: SCTID:449824004 {source="MONDO:equivalentTo"} is_a: EFO:0003900 {source="Wikipedia:Ciliopathy"} ! ciliopathy is_a: MONDO:0015159 {source="Orphanet:2461"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015168 {source="Orphanet:2461"} ! arthrogryposis multiplex congenita property_value: exactMatch http://identifiers.org/mesh/C535910 property_value: exactMatch http://identifiers.org/snomedct/449824004 property_value: exactMatch https://omim.org/entry/248700 property_value: exactMatch Orphanet:2461 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2461"} property_value: excluded_subClassOf MONDO:0015501 {source="Orphanet:2461"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0009565 name: microcephaly-glomerulonephritis-marfanoid habitus syndrome def: "This syndrome is characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis." [Orphanet:2172] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2172"} synonym: "MARFANOID habitus with microcephaly and glomerulonephritis" RELATED [OMIM:248760] synonym: "microcephaly glomerulonephritis Marfanoid habitus" RELATED [GARD:0003615] xref: MESH:C565411 {source="MONDO:equivalentTo"} xref: OMIM:248760 {source="Orphanet:2172/e", source="MONDO:equivalentTo", source="Orphanet:2172"} xref: Orphanet:2172 {source="OMIM:248760", source="MONDO:equivalentTo", source="GARD:0003615"} xref: UMLS:C1855348 {source="OMIM:248760", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="GARD:0003615", source="Orphanet:2172"} is_a: MONDO:0015159 {source="Orphanet:2172"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C565411 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855348 property_value: exactMatch https://omim.org/entry/248760 property_value: exactMatch Orphanet:2172 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2172"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3615/microcephaly-glomerulonephritis-marfanoid-habitus xsd:anyURI {source="GARD:0003615"} [Term] id: MONDO:0009566 name: marfanoid habitus-autosomal recessive intellectual disability syndrome def: "Marfanoid habitus B intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit." [Orphanet:2463] subset: ordo_malformation_syndrome {source="Orphanet:2463"} synonym: "Marfanoid intellectual disability syndrome autosomal" RELATED [GARD:0003388] synonym: "MARFANOID intellectual disability syndrome, autosomal" RELATED [OMIM:248770] synonym: "Marfanoid mental retardation syndrome autosomal" RELATED DEPRECATED [GARD:0003388] synonym: "MARFANOID mental retardation syndrome, autosomal" RELATED DEPRECATED [OMIM:248770] xref: MESH:C565410 {source="MONDO:equivalentTo"} xref: OMIM:248770 {source="Orphanet:2463", source="MONDO:equivalentTo", source="Orphanet:2463/e"} xref: Orphanet:2463 {source="OMIM:248770", source="MONDO:equivalentTo"} xref: UMLS:C1855347 {source="OMIM:248770", source="Orphanet:2463", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015159 {source="Orphanet:2463"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C565410 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855347 property_value: exactMatch https://omim.org/entry/248770 property_value: exactMatch Orphanet:2463 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2463"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0009567 name: Marinesco-Sjogren syndrome def: "Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development." [Orphanet:559] subset: ordo_disease {source="Orphanet:559"} synonym: "Garland-Moorhouse syndrome" EXACT [DOID:0080195] synonym: "hereditary oligophrenic cerebello-lental degeneration" EXACT [DOID:0080195] synonym: "Marinesco-Garland syndrome" EXACT [DOID:0080195] synonym: "Marinesco-Sjogren syndrome" EXACT [MONDO:Lexical, OMIM:248800] synonym: "Marinesco-Sjogren syndrome-Hypergonadotrophic hypogonadism" RELATED [GARD:0008341] synonym: "Marinesco-Sjogren syndrome-myopathy" RELATED [GARD:0008341] synonym: "Marinesco-Sjogren-Garland syndrome" RELATED [GARD:0008341] synonym: "Marinesco-Sjögren syndrome" RELATED [Orphanet:559] synonym: "MSS" BROAD ABBREVIATION [MONDO:Lexical, OMIM:248800] synonym: "oligophrenic cerebellolenticular degeneration" EXACT [DOID:0080195] xref: DOID:0080195 {source="MONDO:equivalentTo"} xref: ICD9:742.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:248800 {source="DOID:0080195", source="Orphanet:559", source="MONDO:equivalentTo", source="Orphanet:559/e"} xref: Orphanet:559 {source="MONDO:equivalentTo", source="OMIM:248800"} xref: SCTID:80734006 {source="MONDO:equivalentTo"} xref: UMLS:C0024814 {source="Orphanet:559", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:248800", source="Orphanet:559/e"} is_a: MONDO:0020046 {source="Orphanet:559"} ! autosomal recessive degenerative and progressive cerebellar ataxia is_a: MONDO:0020165 {source="Orphanet:559"} ! syndromic epicanthus property_value: exactMatch DOID:0080195 property_value: exactMatch http://identifiers.org/snomedct/80734006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024814 property_value: exactMatch https://omim.org/entry/248800 property_value: exactMatch Orphanet:559 [Term] id: MONDO:0009568 name: mast syndrome def: "Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging." [Orphanet:101001] subset: ordo_disease {source="Orphanet:101001"} synonym: "autosomal recessive spastic paraplegia 21" EXACT [DOID:0060245] synonym: "autosomal recessive spastic paraplegia type 21" EXACT [DOID:0060245] synonym: "hereditary spastic paraplegia 21" EXACT [DOID:0060245] synonym: "Mast syndrome" EXACT [Orphanet:101001] synonym: "mast syndrome" EXACT [OMIM:248900] synonym: "spastic paraplegia 21, autosomal recessive" RELATED [OMIM:248900] synonym: "SPG21" EXACT ABBREVIATION [DOID:0060245, Orphanet:101001] xref: DOID:0060245 {source="MONDO:equivalentTo"} xref: MESH:C565409 {source="MONDO:equivalentTo"} xref: OMIM:248900 {source="Orphanet:101001", source="DOID:0060245", source="MONDO:equivalentTo", source="Orphanet:101001/e"} xref: Orphanet:101001 {source="DOID:0060245", source="MONDO:equivalentTo", source="OMIM:248900"} xref: SCTID:764734003 {source="MONDO:equivalentTo"} xref: UMLS:C1855346 {source="Orphanet:101001", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:248900"} is_a: MONDO:0017915 {source="Orphanet:101001"} ! pure or complex autosomal recessive spastic paraplegia property_value: exactMatch DOID:0060245 property_value: exactMatch http://identifiers.org/mesh/C565409 property_value: exactMatch http://identifiers.org/snomedct/764734003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855346 property_value: exactMatch https://omim.org/entry/248900 property_value: exactMatch Orphanet:101001 [Term] id: MONDO:0009569 name: Hennekam-Beemer syndrome def: "Hennekam-Beemer syndrome is characterized by the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. The mode of inheritance is most likely autosomal recessive." [Orphanet:2135] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2135"} synonym: "cutaneous mastocytosis, conductive hearing loss and microtia" RELATED [OMIM:248910] synonym: "Hennekam Beemer syndrome" RELATED [GARD:0003409] synonym: "mastocytosis cutaneous with short stature conductive hearing loss and microtia" RELATED [GARD:0003409] synonym: "mastocytosis-short stature-hearing loss syndrome" EXACT [Orphanet:2135] synonym: "skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe intellectual disability" RELATED [GARD:0003409] synonym: "skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe mental retardation" RELATED DEPRECATED [GARD:0003409] xref: ICD10CM:Q82.2 {source="Orphanet:2135", source="MONDO:relatedTo", source="Orphanet:2135/attributed", source="Orphanet:2135/ntbt"} xref: MESH:C536033 {source="MONDO:equivalentTo"} xref: OMIM:248910 {source="Orphanet:2135", source="MONDO:equivalentTo", source="Orphanet:2135/e", source="GARD:0003409"} xref: Orphanet:2135 {source="MONDO:equivalentTo", source="OMIM:248910", source="GARD:0003409"} xref: SCTID:722453009 {source="MONDO:equivalentTo"} xref: UMLS:CN201032 {source="MONDO:equivalentTo"} is_a: MONDO:0015160 {source="Orphanet:2135"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C536033 property_value: exactMatch http://identifiers.org/snomedct/722453009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201032 property_value: exactMatch https://omim.org/entry/248910 property_value: exactMatch Orphanet:2135 property_value: relatedMatch http://purl.bioontology.org/ontology/ICD10CM/Q82.2 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3409/mastocytosis-cutaneous-with-short-stature-conductive-hearing-loss-and-microtia xsd:anyURI {source="GARD:0003409"} [Term] id: MONDO:0009570 name: McDonough syndrome def: "A rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism." [Orphanet:2471] subset: gard_rare {source="GARD:0003424"} subset: ordo_malformation_syndrome {source="Orphanet:2471"} synonym: "intellectual disability, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect" RELATED [GARD:0003424] synonym: "McDonough syndrome" EXACT [OMIM:248950] synonym: "mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect" RELATED DEPRECATED [GARD:0003424] xref: MESH:C538158 {source="Orphanet:2471/e", source="MONDO:equivalentTo", source="Orphanet:2471"} xref: OMIM:248950 {source="Orphanet:2471/e", source="MONDO:equivalentTo", source="Orphanet:2471"} xref: Orphanet:2471 {source="OMIM:248950", source="MONDO:equivalentTo"} xref: SCTID:715441004 {source="MONDO:equivalentTo"} xref: UMLS:C0796038 {source="OMIM:248950", source="Orphanet:2471/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2471"} is_a: MONDO:0015159 {source="Orphanet:2471"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C538158 property_value: exactMatch http://identifiers.org/snomedct/715441004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796038 property_value: exactMatch https://omim.org/entry/248950 property_value: exactMatch Orphanet:2471 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2471"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3424/mcdonough-syndrome xsd:anyURI {source="GARD:0003424"} [Term] id: MONDO:0009575 name: thiamine-responsive megaloblastic anemia syndrome def: "Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." [Orphanet:49827] subset: gard_rare {source="GARD:0009210"} subset: ordo_disease {source="Orphanet:49827"} synonym: "megaloblastic anaemia thiamine-responsive with diabetes mellitus and sensorineural deafness" RELATED OMO:0003005 [] synonym: "megaloblastic anemia thiamine-responsive with diabetes mellitus and sensorineural deafness" RELATED [GARD:0009210] synonym: "megaloblastic Anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness" RELATED [OMIM:249270] synonym: "Rogers syndrome" EXACT [DOID:0090117, Orphanet:49827] synonym: "thiamine metabolism dysfunction syndrome 1" EXACT [DOID:0090117] synonym: "thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus and deafness type)" EXACT [DOID:0090117] synonym: "thiamine metabolism dysfunction syndrome 1 (megaloblastic Anemia, diabetes mellitus, and deafness type)" RELATED [OMIM:249270] synonym: "thiamine responsive megaloblastic anaemia syndrome" RELATED OMO:0003005 [] synonym: "thiamine responsive megaloblastic anemia syndrome" RELATED [GARD:0009210] synonym: "thiamine-responsive Anaemia syndrome" RELATED OMO:0003005 [] synonym: "thiamine-responsive anaemia syndrome" EXACT OMO:0003005 [] synonym: "thiamine-responsive Anemia syndrome" RELATED [OMIM:249270] synonym: "thiamine-responsive anemia syndrome" EXACT [DOID:0090117] synonym: "thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness" EXACT OMO:0003005 [] synonym: "thiamine-responsive megaloblastic anemia syndrome" EXACT [MONDO:Lexical, OMIM:249270] synonym: "thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness" EXACT [DOID:0090117, Orphanet:49827] synonym: "thiamine-responsive myelodysplasia" EXACT [DOID:0090117, OMIM:249270] synonym: "THMD1" EXACT ABBREVIATION [DOID:0090117] synonym: "TRMA" EXACT ABBREVIATION [DOID:0090117, MONDO:Lexical, OMIM:249270, Orphanet:49827] xref: DOID:0090117 {source="MONDO:equivalentTo"} xref: MESH:C536510 {source="Orphanet:49827", source="MONDO:equivalentTo", source="DOID:0090117", source="Orphanet:49827/e"} xref: OMIM:249270 {source="Orphanet:49827", source="MONDO:equivalentTo", source="DOID:0090117", source="Orphanet:49827/e"} xref: Orphanet:49827 {source="MONDO:equivalentTo", source="OMIM:249270"} xref: SCTID:237617006 {source="MONDO:equivalentTo"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0000152 {source="DC-OMIM:249270", source="OMIM:249270"} ! thiamine-responsive dysfunction syndrome is_a: MONDO:0020112 {source="Orphanet:49827"} ! vitamin B12- and folate-independent constitutional megaloblastic anemia property_value: exactMatch DOID:0090117 property_value: exactMatch http://identifiers.org/mesh/C536510 property_value: exactMatch http://identifiers.org/snomedct/237617006 property_value: exactMatch https://omim.org/entry/249270 property_value: exactMatch Orphanet:49827 property_value: excluded_subClassOf MONDO:0005015 {source="MONDO:0015888-obsoleted", source="MONDO:Redundant", source="Orphanet:49827"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5723 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9210/thiamine-responsive-megaloblastic-anemia-syndrome xsd:anyURI {source="GARD:0009210"} [Term] id: MONDO:0009576 name: megalocornea synonym: "anterior megalophthalmos" EXACT [DOID:0060305] synonym: "megalocornea" EXACT [MONDO:ambiguous] synonym: "megalocornea (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0060305 {source="MONDO:equivalentTo"} xref: HP:0000485 {source="MONDO:otherHierarchy"} xref: HP:0007660 {source="MONDO:otherHierarchy", source="DOID:0060305"} xref: MESH:C562829 {source="MONDO:equivalentTo", source="DOID:0060305"} xref: OMIM:249300 {source="MONDO:equivalentTo", source="DOID:0060305"} xref: SCTID:268158009 {source="MONDO:equivalentTo", source="DOID:0060305"} is_a: EFO:0000508 {source="MESH:C562829/inferred"} ! genetic disorder is_a: EFO:0009464 {source="DOID:0060305"} ! corneal disease property_value: exactMatch DOID:0060305 property_value: exactMatch http://identifiers.org/mesh/C562829 property_value: exactMatch http://identifiers.org/snomedct/268158009 property_value: exactMatch https://omim.org/entry/249300 property_value: IAO:0000589 "megalocornea (disease)" xsd:string [Term] id: MONDO:0009577 name: megalocornea-intellectual disability syndrome def: "Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported." [Orphanet:2479] subset: gard_rare {source="GARD:0003448"} subset: ordo_malformation_syndrome {source="Orphanet:2479"} synonym: "megalocornea intellectual disability syndrome" RELATED [GARD:0003448] synonym: "megalocornea mental retardation syndrome" RELATED DEPRECATED [GARD:0003448] synonym: "megalocornea-intellectual disability syndrome" EXACT [OMIM:249310] synonym: "megalocornea-mental retardation syndrome" RELATED DEPRECATED [OMIM:249310] synonym: "MMR syndrome" EXACT [OMIM:249310, Orphanet:2479] synonym: "Neuhauser syndrome" RELATED [OMIM:249310] synonym: "NeuhC$user syndrome" EXACT [Orphanet:2479] synonym: "Neuhäuser syndrome" EXACT [Orphanet:2479] xref: MESH:C536143 {source="MONDO:equivalentTo"} xref: OMIM:249310 {source="MONDO:equivalentTo", source="Orphanet:2479", source="Orphanet:2479/e"} xref: Orphanet:2479 {source="OMIM:249310", source="MONDO:equivalentTo"} xref: SCTID:733522005 {source="MONDO:equivalentTo"} xref: UMLS:C0796086 {source="OMIM:249310", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2479", source="Orphanet:2479/e"} is_a: EFO:0003966 {source="MONDO:0020222-obsoleted"} ! eye disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: exactMatch http://identifiers.org/mesh/C536143 property_value: exactMatch http://identifiers.org/snomedct/733522005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796086 property_value: exactMatch https://omim.org/entry/249310 property_value: exactMatch Orphanet:2479 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:2479"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3448/megalocornea-intellectual-disability-syndrome xsd:anyURI {source="GARD:0003448"} [Term] id: MONDO:0009578 name: neurocutaneous melanocytosis def: "Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death." [Orphanet:2481] subset: ordo_disease {source="Orphanet:2481"} synonym: "melanosis, neurocutaneous" RELATED [MONDO:Lexical, OMIM:249400] synonym: "NCM" EXACT ABBREVIATION [Orphanet:2481] synonym: "NCMS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:249400] synonym: "neurocutaneous melanosis" EXACT [Orphanet:2481] synonym: "neurocutaneous melanosis syndrome" RELATED [GARD:0007186] synonym: "neurocutaneous melanosis, somatic" EXACT [OMIM:249400, OMIM:genemap2] synonym: "Neuromelanosis" RELATED [OMIM:249400] xref: MESH:C537387 {source="Orphanet:2481/e", source="MONDO:equivalentTo", source="Orphanet:2481"} xref: OMIM:249400 {source="Orphanet:2481/e", source="MONDO:equivalentTo", source="Orphanet:2481"} xref: Orphanet:2481 {source="OMIM:249400", source="MONDO:equivalentTo"} is_a: EFO:0009675 {source="Orphanet:2481"} ! melanocytic nevus is_a: MONDO:0000648 ! nervous system benign neoplasm is_a: MONDO:0016756 {source="Orphanet:2481"} ! inherited nervous system cancer-predisposing syndrome is_a: MONDO:0042983 {source="MESH:C537387", source="MONDO:cjm"} ! neurocutaneous syndrome property_value: exactMatch http://identifiers.org/mesh/C537387 property_value: exactMatch https://omim.org/entry/249400 property_value: exactMatch Orphanet:2481 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009579 name: Frank-Ter Haar syndrome def: "A syndrome defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay." [https://orcid.org/0000-0001-5208-3432, Orphanet:137834] subset: gard_rare subset: ordo_disease {source="Orphanet:137834"} synonym: "autosomal recessive Melnick-Needles syndrome (formerly)" RELATED [GARD:0005138] synonym: "Borrone Dermatocardioskeletal syndrome" EXACT [OMIM:249420] synonym: "Borrone dermatocardioskeletal syndrome" RELATED [GARD:0000939, MESH:C536577] synonym: "Borrone di Rocco Crovato syndrome" EXACT [MONDO:0022018] synonym: "Frank Ter Haar syndrome" RELATED [GARD:0005138] synonym: "FRANK-TER Haar syndrome" RELATED [OMIM:249420] synonym: "Frank-Ter Haar syndrome" EXACT [MONDO:Lexical, OMIM:249420] synonym: "FTHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:249420] synonym: "megalocornea, multiple skeletal anomalies, and developmental delay" RELATED [GARD:0005138] synonym: "Melnick-Needles syndrome, autosomal recessive" RELATED [OMIM:249420] synonym: "Melnick-Needles syndrome, autosomal recessive, formerly" RELATED [OMIM:249420] synonym: "Ter Haar syndrome" EXACT [GARD:0005138, OMIM:249420, Orphanet:137834] xref: DOID:0111789 {source="MONDO:equivalentTo"} xref: MESH:C536577 {source="MONDO:equivalentTo"} xref: MESH:C537274 {source="MONDO:equivalentTo"} xref: OMIM:211170 {source="GARD:0000939", source="MONDO:equivalentObsolete"} xref: OMIM:249420 {source="GARD:0005138", source="MONDO:equivalentTo", source="Orphanet:137834", source="Orphanet:137834/e"} xref: Orphanet:137834 {source="GARD:0005138", source="OMIM:249420", source="MONDO:equivalentTo"} xref: SCTID:720958002 {source="MONDO:equivalentTo"} xref: UMLS:C1855305 {source="GARD:0005138", source="OMIM:249420", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:137834", source="Orphanet:137834/e"} xref: UMLS:C1859406 {source="GARD:0000939", source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0019690 {source="PMID:31633310"} ! filamin-related bone disorder property_value: exactMatch DOID:0111789 property_value: exactMatch http://identifiers.org/mesh/C536577 property_value: exactMatch http://identifiers.org/mesh/C537274 property_value: exactMatch http://identifiers.org/snomedct/720958002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855305 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859406 property_value: exactMatch https://omim.org/entry/249420 property_value: exactMatch Orphanet:137834 property_value: excluded_subClassOf MONDO:0005093 {source="MESH:C536577"} property_value: excluded_subClassOf MONDO:0005381 {source="MESH:C536577", source="MONDO:Redundant"} property_value: excluded_subClassOf MONDO:0006816 {source="MESH:C536577"} property_value: excluded_subClassOf MONDO:0018233 {source="Orphanet:137834"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5000 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5001 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5138/frank-ter-haar-syndrome xsd:anyURI {source="GARD:0005138"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/939/borrone-di-rocco-crovato-syndrome xsd:anyURI {source="GARD:0000939"} [Term] id: MONDO:0009580 name: intellectual disability, autosomal recessive 1 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PRSS12 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in PRSS12" EXACT [MONDO:design_pattern] synonym: "intellectual disability, autosomal recessive 1" EXACT [MONDO:Lexical, OMIM:249500] synonym: "intellectual disability, autosomal recessive type 1" EXACT [MONDORULE:1, OMIM:249500] synonym: "mental retardation, autosomal recessive 1" RELATED DEPRECATED [MONDO:Lexical, OMIM:249500] synonym: "mental retardation, autosomal recessive type 1" EXACT DEPRECATED [MONDORULE:1, OMIM:249500] synonym: "MRT1" RELATED DEPRECATED [MONDO:Lexical, OMIM:249500] synonym: "PRSS12 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081177 {source="MONDO:equivalentTo"} xref: MESH:C565406 {source="MONDO:equivalentTo"} xref: OMIM:249500 {source="MONDO:equivalentTo"} xref: UMLS:C1855304 {source="OMIM:249500", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019502 {source="DC-OMIM:249500", source="MONDO:Redundant", source="OMIM:249500"} ! autosomal recessive non-syndromic intellectual disability property_value: exactMatch DOID:0081177 property_value: exactMatch http://identifiers.org/mesh/C565406 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855304 property_value: exactMatch https://omim.org/entry/249500 [Term] id: MONDO:0009581 name: intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome def: "Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome is characterized by moderate intellectual deficit, craniofacial dysmorphism (including broad nose with coloboma of the alea nasi, deep-set eyes, prognathism), hypergonadotropic hypogonadism, eunuchoid habitus, type 1 diabetes mellitus, and epilepsy. It has been described in four patients (three brothers and their sister). This syndrome is probably transmitted as an autosomal recessive trait." [Orphanet:3044] subset: gard_rare {source="GARD:0009811"} subset: ordo_malformation_syndrome {source="Orphanet:3044"} synonym: "Belgian type intellectual disability syndrome" RELATED [GARD:0009811] synonym: "Belgian type mental retardation syndrome" RELATED DEPRECATED [GARD:0009811] synonym: "intellectual disability syndrome, Belgian type" RELATED [OMIM:249599] synonym: "mental retardation syndrome, Belgian type" RELATED DEPRECATED [OMIM:249599] xref: MESH:C537447 {source="MONDO:equivalentTo"} xref: OMIM:249599 {source="Orphanet:3044/e", source="MONDO:equivalentTo", source="Orphanet:3044"} xref: Orphanet:3044 {source="OMIM:249599", source="MONDO:equivalentTo"} xref: SCTID:722454003 {source="MONDO:equivalentTo"} xref: UMLS:C1855303 {source="OMIM:249599", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3044"} is_a: MONDO:0015159 {source="Orphanet:3044"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C537447 property_value: exactMatch http://identifiers.org/snomedct/722454003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855303 property_value: exactMatch https://omim.org/entry/249599 property_value: exactMatch Orphanet:3044 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3044"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9811/intellectual-disability-dysmorphism-hypogonadism-diabetes-mellitus-syndrome xsd:anyURI {source="GARD:0009811"} [Term] id: MONDO:0009582 name: Mietens syndrome def: "Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii." [Orphanet:2557] subset: ordo_malformation_syndrome {source="Orphanet:2557"} synonym: "corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and intellectual disability" RELATED [GARD:0003524] synonym: "corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and mental retardation" RELATED DEPRECATED [GARD:0003524] synonym: "intellectual disability syndrome, Mietens Weber type" RELATED [GARD:0003524] synonym: "intellectual disability syndrome, Mietens-WEBER type" RELATED [OMIM:249600] synonym: "intellectual disability, Mietens-Weber type" EXACT [Orphanet:2557] synonym: "mental retardation syndrome, Mietens Weber type" RELATED DEPRECATED [GARD:0003524] synonym: "mental retardation syndrome, Mietens-WEBER type" RELATED DEPRECATED [OMIM:249600] synonym: "Mietens-Weber syndrome" RELATED [OMIM:249600] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537444 {source="MONDO:equivalentTo"} xref: OMIM:249600 {source="MONDO:equivalentTo", source="Orphanet:2557", source="Orphanet:2557/e"} xref: Orphanet:2557 {source="MONDO:equivalentTo", source="OMIM:249600"} xref: SCTID:40291001 {source="MONDO:equivalentTo"} xref: UMLS:C0265249 {source="MONDO:equivalentTo", source="Orphanet:2557", source="MONDO:ncbi_mim2gene_medline", source="OMIM:249600", source="Orphanet:2557/e"} is_a: MONDO:0015160 {source="Orphanet:2557"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0020215 {source="Orphanet:2557"} ! syndromic corneal dystrophy property_value: exactMatch http://identifiers.org/mesh/C537444 property_value: exactMatch http://identifiers.org/snomedct/40291001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265249 property_value: exactMatch https://omim.org/entry/249600 property_value: exactMatch Orphanet:2557 [Term] id: MONDO:0009583 name: blepharophimosis - intellectual disability syndrome, Ohdo type def: "Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability." [Orphanet:2728] subset: ordo_malformation_syndrome {source="Orphanet:2728"} synonym: "blepharophimosis syndrome, Ohdo type" EXACT [Orphanet:2728] synonym: "BMRS, Ohdo type" EXACT [Orphanet:2728] synonym: "intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth" RELATED [OMIM:249620] synonym: "mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth" RELATED DEPRECATED [OMIM:249620] synonym: "Ohdo blepharophimosis syndrome" RELATED [OMIM:249620] synonym: "Ohdo syndrome" EXACT [OMIM:249620, Orphanet:2728] synonym: "Ohdo-Madokoro-Sonoda syndrome" EXACT [Orphanet:2728] xref: ICD9:374.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:525.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:249620 {source="Orphanet:2728/e", source="MONDO:equivalentTo", source="Orphanet:2728"} xref: Orphanet:2728 {source="OMIM:249620", source="MONDO:equivalentTo"} xref: SCTID:412787009 {source="MONDO:equivalentTo"} xref: UMLS:C0796094 {source="Orphanet:2728/e", source="OMIM:249620", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2728"} is_a: MONDO:0000734 {source="DC-OMIM:249620"} ! Ohdo syndrome and variants property_value: exactMatch http://identifiers.org/snomedct/412787009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796094 property_value: exactMatch https://omim.org/entry/249620 property_value: exactMatch Orphanet:2728 [Term] id: MONDO:0009584 name: intellectual disability, Buenos-Aires type def: "Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe." [Orphanet:3079] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:3079"} synonym: "intellectual deficit Buenos-Aires type" RELATED [GARD:0003485] synonym: "intellectual disability Buenos Aires type" RELATED [GARD:0003485] synonym: "intellectual disability, Buenos Aires type" RELATED [OMIM:249630] synonym: "mental retardation Buenos Aires type" RELATED DEPRECATED [GARD:0003485] synonym: "mental retardation, Buenos Aires type" RELATED DEPRECATED [OMIM:249630] synonym: "Mutchinick syndrome" EXACT [GARD:0003485, OMIM:249630, Orphanet:3079] xref: MESH:C563095 {source="MONDO:equivalentTo"} xref: OMIM:249630 {source="Orphanet:3079", source="MONDO:equivalentTo", source="Orphanet:3079/e", source="GARD:0003485"} xref: Orphanet:3079 {source="OMIM:249630", source="MONDO:equivalentTo", source="GARD:0003485"} xref: SCTID:725906006 {source="MONDO:equivalentTo"} xref: UMLS:C0796080 {source="Orphanet:3079", source="OMIM:249630", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="GARD:0003485"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3079", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:3079"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C563095 property_value: exactMatch http://identifiers.org/snomedct/725906006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796080 property_value: exactMatch https://omim.org/entry/249630 property_value: exactMatch Orphanet:3079 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3485/intellectual-deficit-buenos-aires-type xsd:anyURI {source="GARD:0003485"} [Term] id: MONDO:0009585 name: encephalopathy due to beta-mercaptolactate-cysteine disulfiduria subset: gard_rare subset: ordo_disease {source="Orphanet:1035"} synonym: "3-mercaptopyruvate sulfurtransferase deficiency" EXACT [Orphanet:1035] synonym: "Ampola syndrome" EXACT [Orphanet:1035] synonym: "Beta-mercaptolactate cysteine disulfiduria" RELATED [GARD:0000654, Orphanet:1035] synonym: "disulfiduria, mixed" RELATED [OMIM:249650] synonym: "MCDU" RELATED ABBREVIATION [MONDO:Lexical, OMIM:249650] synonym: "mercaptolactate-cysteine disulfiduria" RELATED [MONDO:Lexical, OMIM:249650] xref: MESH:C563085 {source="MONDO:equivalentTo"} xref: OMIM:249650 {source="Orphanet:1035", source="MONDO:equivalentTo", source="Orphanet:1035/e"} xref: Orphanet:1035 {source="OMIM:249650", source="MONDO:equivalentTo"} xref: UMLS:C0796055 {source="OMIM:249650", source="Orphanet:1035", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0024237 {source="Orphanet:1035"} ! inherited neurodegenerative disorder property_value: exactMatch http://identifiers.org/mesh/C563085 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796055 property_value: exactMatch https://omim.org/entry/249650 property_value: exactMatch Orphanet:1035 [Term] id: MONDO:0009588 name: Langer mesomelic dysplasia def: "Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs." [Orphanet:2632] subset: gard_rare {source="GARD:0003553"} subset: ordo_malformation_syndrome {source="Orphanet:2632"} synonym: "dyschondrosteosis, homozygous" RELATED [OMIM:249700] synonym: "Langer mesomelic dysplasia" EXACT [MONDO:Lexical, OMIM:249700] synonym: "langer mesomelic dysplasia, pseudoautosomal recessive" EXACT [OMIM:249700, OMIM:genemap2] synonym: "Langer syndrome" EXACT [NCIT:C126876] synonym: "Langer type mesomelic dysplasia" EXACT [NCIT:C126876] synonym: "LMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:249700] synonym: "mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type" RELATED [GARD:0003553] synonym: "mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type" RELATED [OMIM:249700] synonym: "mesomelic dwarfism, Langer type" EXACT [Orphanet:2632] xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537267 {source="Orphanet:2632", source="MONDO:equivalentTo", source="Orphanet:2632/e"} xref: NCIT:C126876 {source="MONDO:equivalentTo"} xref: OMIM:249700 {source="Orphanet:2632", source="MONDO:equivalentTo", source="Orphanet:2632/e"} xref: Orphanet:2632 {source="MONDO:equivalentTo", source="OMIM:249700"} xref: SCTID:38494008 {source="MONDO:equivalentTo"} xref: UMLS:C0432230 {source="Orphanet:2632", source="MONDO:equivalentTo", source="OMIM:249700", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2632/e", source="NCIT:C126876"} is_a: MONDO:0019697 {source="Orphanet:2632", source="PMID:31633310"} ! mesomelic and rhizo-mesomelic dysplasia property_value: exactMatch http://identifiers.org/mesh/C537267 property_value: exactMatch http://identifiers.org/snomedct/38494008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432230 property_value: exactMatch https://omim.org/entry/249700 property_value: exactMatch NCIT:C126876 property_value: exactMatch Orphanet:2632 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3553/langer-mesomelic-dysplasia xsd:anyURI {source="GARD:0003553"} [Term] id: MONDO:0009589 name: mesomelic dwarfism-cleft palate-camptodactyly syndrome def: "Mesomelic dwarfism-cleft palate-camptodactyly syndrome is characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive." [Orphanet:2631] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2631"} synonym: "mesomelic dwarfism cleft palate camptodactyly" RELATED [GARD:0003552] synonym: "mesomelic dysplasia, Kozlowski-Reardon type" EXACT [Orphanet:2631] synonym: "mesomelic dysplasia, Reardon type" EXACT [Orphanet:2631] synonym: "mesomelic limb shortening and bowing" RELATED [GARD:0003552, OMIM:249710] synonym: "Reardon-Hall-Slaney syndrome" EXACT [GARD:0003552, Orphanet:2631] xref: MESH:C565404 {source="MONDO:equivalentTo"} xref: OMIM:249710 {source="GARD:0003552", source="Orphanet:2631", source="MONDO:equivalentTo", source="Orphanet:2631/e"} xref: Orphanet:2631 {source="GARD:0003552", source="MONDO:equivalentTo", source="OMIM:249710"} xref: SCTID:715471007 {source="MONDO:equivalentTo"} is_a: MONDO:0015161 {source="Orphanet:2631"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0019697 {source="Orphanet:2631", source="PMID:31633310"} ! mesomelic and rhizo-mesomelic dysplasia property_value: exactMatch http://identifiers.org/mesh/C565404 property_value: exactMatch http://identifiers.org/snomedct/715471007 property_value: exactMatch https://omim.org/entry/249710 property_value: exactMatch Orphanet:2631 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3552/mesomelic-dwarfism-cleft-palate-camptodactyly xsd:anyURI {source="GARD:0003552"} [Term] id: MONDO:0009591 name: metachromatic leukodystrophy, juvenile form def: "Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes." [GARD:0003230] subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:309263"} synonym: "ARSA deficiency" RELATED [GARD:0003230, OMIM:250100] synonym: "arylsulfatase A deficiency" RELATED [GARD:0003230, OMIM:250100] synonym: "arylsulfatase A deficiency, juvenile form" EXACT [Orphanet:309263] synonym: "cerebral sclerosis diffuse metachromatic form" RELATED [GARD:0003230] synonym: "cerebral sclerosis, diffuse, metachromatic form" RELATED [OMIM:250100] synonym: "cerebroside sulfatase deficiency" RELATED [GARD:0003230, OMIM:250100] synonym: "leukodystrophy metachromatic" RELATED [GARD:0003230] synonym: "metachromatic leukodystrophy" RELATED [OMIM:250100] synonym: "metachromatic leukodystrophy, adult" RELATED [OMIM:250100] synonym: "metachromatic leukodystrophy, juvenile" RELATED [OMIM:250100] synonym: "metachromatic leukodystrophy, juvenile form" EXACT [] synonym: "metachromatic leukodystrophy, late infantile" RELATED [OMIM:250100] synonym: "metachromatic leukoencephalopathy" RELATED [GARD:0003230, OMIM:250100] synonym: "MLD" RELATED ABBREVIATION [GARD:0003230, OMIM:250100] synonym: "Mld" RELATED [OMIM:250100] synonym: "MLD, juvenile form" EXACT [Orphanet:309263] synonym: "pseudoarylsulfatase A deficiency" RELATED [OMIM:250100] synonym: "sulfatide lipidosis" RELATED [GARD:0003230, OMIM:250100] xref: OMIM:250100 {source="MONDO:equivalentTo", source="GARD:0003230"} xref: Orphanet:309263 {source="MONDO:equivalentTo"} xref: SCTID:238031009 {source="MONDO:equivalentTo"} is_a: MONDO:0018868 {source="DC-OMIM:250100", source="Orphanet:309263"} ! metachromatic leukodystrophy property_value: exactMatch http://identifiers.org/snomedct/238031009 property_value: exactMatch https://omim.org/entry/250100 property_value: exactMatch Orphanet:309263 [Term] id: MONDO:0009592 name: metaphyseal acroscyphodysplasia def: "Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases." [Orphanet:1240] subset: gard_rare {source="GARD:0003519"} subset: ordo_disease {source="Orphanet:1240"} synonym: "Bellini Chiumello Rimoldi syndrome" RELATED [GARD:0003519] synonym: "Bellini syndrome" EXACT [Orphanet:1240] synonym: "cupped metaphyses and cone-Shaped epiphyses of knees with brachydactyly" RELATED [OMIM:250215] synonym: "intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome" EXACT [Orphanet:1240] synonym: "metaphyseal acroscyphodysplasia" EXACT [OMIM:250215] synonym: "wedge-Shaped epiphyses of knees" RELATED [OMIM:250215] synonym: "wedge-shaped epiphyses of knees" RELATED [GARD:0003519] synonym: "wedge-shaped epiphyses of the knees with intellectual disability and short stature" RELATED [GARD:0003519] synonym: "wedge-shaped epiphyses of the knees with mental retardation and short stature" RELATED DEPRECATED [GARD:0003519] xref: MESH:C537350 {source="Orphanet:1240/e", source="MONDO:equivalentTo", source="Orphanet:1240"} xref: OMIM:250215 {source="Orphanet:1240/e", source="MONDO:equivalentTo", source="Orphanet:1240"} xref: Orphanet:1240 {source="OMIM:250215", source="MONDO:equivalentTo"} xref: UMLS:C1855243 {source="OMIM:250215", source="Orphanet:1240/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1240"} is_a: MONDO:0019693 {source="Orphanet:1240"} ! multiple metaphyseal dysplasia property_value: exactMatch http://identifiers.org/mesh/C537350 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855243 property_value: exactMatch https://omim.org/entry/250215 property_value: exactMatch Orphanet:1240 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3519/metaphyseal-acroscyphodysplasia xsd:anyURI {source="GARD:0003519"} [Term] id: MONDO:0009593 name: spondylometaphyseal dysplasia, Sedaghatian type def: "Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly." [Orphanet:93317] subset: gard_rare {source="GARD:0004993"} subset: ordo_malformation_syndrome {source="Orphanet:93317"} synonym: "lethal metaphyseal dysplasia" RELATED [GARD:0004993] synonym: "metaphyseal chondrodysplasia, congenital lethal" RELATED [OMIM:250220] synonym: "Sedaghatian chondrodysplasia" RELATED [OMIM:250220] synonym: "SMDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:250220] synonym: "spondylometaphyseal dysplasia Sedaghatian type" RELATED [GARD:0004993] synonym: "spondylometaphyseal dysplasia, Sedaghatian type" EXACT [MONDO:Lexical, OMIM:250220] xref: DOID:0112298 {source="MONDO:equivalentTo"} xref: MESH:C535798 {source="Orphanet:93317/e", source="MONDO:equivalentTo", source="Orphanet:93317"} xref: OMIM:250220 {source="Orphanet:93317/e", source="MONDO:equivalentTo", source="Orphanet:93317"} xref: Orphanet:93317 {source="MONDO:equivalentTo", source="OMIM:250220"} xref: UMLS:C1855229 {source="Orphanet:93317/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:93317", source="OMIM:250220"} is_a: MONDO:0016763 {source="DC-OMIM:250220"} ! spondylometaphyseal dysplasia is_a: MONDO:0040566 {source="PMID:33340416"} ! inherited glutathione metabolism disease is_a: MONDO:0800080 {source="PMID:31633310"} ! severe spondylodysplastic dysplasia property_value: exactMatch DOID:0112298 property_value: exactMatch http://identifiers.org/mesh/C535798 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855229 property_value: exactMatch https://omim.org/entry/250220 property_value: exactMatch Orphanet:93317 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4993/spondylometaphyseal-dysplasia-sedaghatian-type xsd:anyURI {source="GARD:0004993"} [Term] id: MONDO:0009594 name: metaphyseal chondrodysplasia, Kaitila type def: "Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982." [Orphanet:166038] subset: ordo_disease {source="Orphanet:166038"} synonym: "metaphyseal chondrodysplasia, Kaitila type" EXACT [OMIM:250230] xref: MESH:C565400 {source="MONDO:equivalentTo"} xref: OMIM:250230 {source="MONDO:equivalentTo", source="Orphanet:166038", source="Orphanet:166038/e"} xref: Orphanet:166038 {source="MONDO:equivalentTo", source="OMIM:250230"} xref: UMLS:C1855217 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:166038", source="OMIM:250230"} is_a: MONDO:0019693 {source="Orphanet:166038"} ! multiple metaphyseal dysplasia property_value: exactMatch http://identifiers.org/mesh/C565400 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855217 property_value: exactMatch https://omim.org/entry/250230 property_value: exactMatch Orphanet:166038 property_value: excluded_subClassOf MONDO:0000138 {source="DC-OMIM:250230"} [Term] id: MONDO:0009595 name: cartilage-hair hypoplasia def: "Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth." [Orphanet:175] subset: gard_rare {source="GARD:0006996"} subset: ordo_disease {source="Orphanet:175"} synonym: "autosomal recessive metaphyseal chondrodysplasia" EXACT [Orphanet:175] synonym: "cartilage hair hypoplasia" EXACT [NCIT:C61245] synonym: "cartilage hair hypoplasia like syndrome" RELATED [GARD:0006996] synonym: "cartilage-hair hypoplasia" EXACT [MONDO:Lexical, OMIM:250250] synonym: "CHH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:250250] synonym: "McKusick type metaphyseal chondrodysplasia" EXACT [DOID:14773] synonym: "metaphyseal chondrodysplasia McKusick type" RELATED [GARD:0006996] synonym: "metaphyseal chondrodysplasia, McKusick type" EXACT [DOID:14773, Orphanet:175] synonym: "metaphyseal chondrodysplasia, Mckusick type" RELATED [OMIM:250250] xref: DOID:14773 {source="MONDO:equivalentTo"} xref: MedDRA:10069596 {source="Orphanet:175/e", source="Orphanet:175"} xref: MESH:C535916 {source="Orphanet:175/e", source="MONDO:equivalentTo", source="DOID:14773", source="Orphanet:175"} xref: NCIT:C61245 {source="MONDO:equivalentTo", source="DOID:14773"} xref: OMIM:250250 {source="Orphanet:175/e", source="MONDO:equivalentTo", source="DOID:14773", source="Orphanet:175"} xref: Orphanet:175 {source="MONDO:equivalentTo", source="OMIM:250250"} xref: SCTID:7720002 {source="MONDO:equivalentTo", source="DOID:14773"} xref: UMLS:C0220748 {source="Orphanet:175/e", source="MONDO:equivalentTo", source="OMIM:250250", source="MONDO:ncbi_mim2gene_medline", source="DOID:14773", source="Orphanet:175", source="NCIT:C61245"} is_a: EFO:1000017 {source="DOID:14773", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015708 {source="Orphanet:175"} ! immuno-osseous dysplasia is_a: MONDO:0019287 {source="Orphanet:175"} ! ectodermal dysplasia syndrome is_a: MONDO:0019693 {source="Orphanet:175", source="PMID:31633310"} ! multiple metaphyseal dysplasia property_value: closeMatch http://identifiers.org/meddra/10069596 property_value: exactMatch DOID:14773 property_value: exactMatch http://identifiers.org/mesh/C535916 property_value: exactMatch http://identifiers.org/snomedct/7720002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220748 property_value: exactMatch https://omim.org/entry/250250 property_value: exactMatch NCIT:C61245 property_value: exactMatch Orphanet:175 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6996/cartilage-hair-hypoplasia xsd:anyURI {source="GARD:0006996"} [Term] id: MONDO:0009597 name: metaphyseal chondrodysplasia, Spahr type subset: ordo_disease {source="Orphanet:2501"} synonym: "MDST" RELATED ABBREVIATION [MONDO:Lexical, OMIM:250400] synonym: "metaphyseal chondrodysplasia Spahr type" RELATED [GARD:0003563] synonym: "metaphyseal chondrodysplasia, Spahr type" EXACT [OMIM:250400] synonym: "metaphyseal dysplasia, Spahr type" RELATED [MONDO:Lexical, OMIM:250400] synonym: "Spahr type metaphyseal chondrodysplasia" RELATED [GARD:0003563] xref: MESH:C537353 {source="MONDO:equivalentTo", source="Orphanet:2501", source="Orphanet:2501/e"} xref: OMIM:250400 {source="MONDO:equivalentTo", source="Orphanet:2501", source="Orphanet:2501/e"} xref: Orphanet:2501 {source="MONDO:equivalentTo", source="OMIM:250400"} xref: SCTID:254084008 {source="MONDO:equivalentTo"} xref: UMLS:C0432225 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2501", source="Orphanet:2501/e", source="OMIM:250400"} is_a: MONDO:0019693 {source="Orphanet:2501", source="PMID:31633310"} ! multiple metaphyseal dysplasia property_value: exactMatch http://identifiers.org/mesh/C537353 property_value: exactMatch http://identifiers.org/snomedct/254084008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432225 property_value: exactMatch https://omim.org/entry/250400 property_value: exactMatch Orphanet:2501 property_value: excluded_subClassOf MONDO:0000138 {source="DC-OMIM:250400"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0009598 name: metaphyseal chondrodysplasia-retinitis pigmentosa syndrome subset: ordo_disease {source="Orphanet:166035"} synonym: "brachydactyly-short stature-retinitis pigmentosa syndrome" RELATED [Orphanet:166035] synonym: "metaphyseal chondrodysplasia with retinitis pigmentosa" RELATED [OMIM:250410] synonym: "retinitis pigmentosa with or without skeletal anomalies" RELATED [OMIM:250410] synonym: "RPSKA" RELATED ABBREVIATION [OMIM:250410] xref: MESH:C565398 {source="MONDO:equivalentTo"} xref: OMIM:250410 {source="Orphanet:166035", source="MONDO:equivalentTo", source="Orphanet:166035/e"} xref: Orphanet:166035 {source="MONDO:equivalentTo", source="OMIM:250410"} xref: UMLS:C1855188 {source="Orphanet:166035", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:250410"} is_a: MONDO:0019693 {source="Orphanet:166035"} ! multiple metaphyseal dysplasia property_value: exactMatch http://identifiers.org/mesh/C565398 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855188 property_value: exactMatch https://omim.org/entry/250410 property_value: exactMatch Orphanet:166035 [Term] id: MONDO:0009599 name: metaphyseal dysostosis-intellectual disability-conductive deafness syndrome def: "Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterized by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive." [Orphanet:2502] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2502"} synonym: "metaphyseal dysostosis intellectual disability conductive deafness" RELATED [GARD:0003566] synonym: "metaphyseal dysostosis mental retardation conductive deafness" RELATED DEPRECATED [GARD:0003566] synonym: "metaphyseal dysostosis, conductive hearing loss and intellectual disability" RELATED [GARD:0003566] synonym: "metaphyseal dysostosis, conductive hearing loss and mental retardation" RELATED DEPRECATED [GARD:0003566] synonym: "metaphyseal dysostosis, intellectual disability, and conductive deafness" RELATED [OMIM:250420] synonym: "metaphyseal dysostosis, mental retardation, and conductive deafness" RELATED DEPRECATED [OMIM:250420] xref: MESH:C565396 {source="MONDO:equivalentTo"} xref: OMIM:250420 {source="GARD:0003566", source="MONDO:equivalentTo", source="Orphanet:2502", source="Orphanet:2502/e"} xref: Orphanet:2502 {source="GARD:0003566", source="MONDO:equivalentTo", source="OMIM:250420"} xref: UMLS:C1855175 {source="GARD:0003566", source="MONDO:equivalentTo", source="Orphanet:2502", source="MONDO:ncbi_mim2gene_medline", source="OMIM:250420"} is_a: MONDO:0019693 {source="Orphanet:2502"} ! multiple metaphyseal dysplasia property_value: exactMatch http://identifiers.org/mesh/C565396 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855175 property_value: exactMatch https://omim.org/entry/250420 property_value: exactMatch Orphanet:2502 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:2502"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3566/metaphyseal-dysostosis-mental-retardation-conductive-deafness xsd:anyURI {source="GARD:0003566"} [Term] id: MONDO:0009601 name: metaphyseal dysplasia without hypotrichosis subset: gard_rare {source="GARD:0010622"} synonym: "cartilage-hair hypoplasia variant, skeletal manifestations only" RELATED [OMIM:250460] synonym: "cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency" RELATED [OMIM:250460] synonym: "CHHV" RELATED ABBREVIATION [GARD:0010622] synonym: "MDWH" RELATED ABBREVIATION [OMIM:250460] synonym: "metaphyseal dysplasia without hypotrichosis" EXACT [OMIM:250460] xref: MESH:C563574 {source="MONDO:equivalentTo"} xref: OMIM:250460 {source="MONDO:equivalentTo"} xref: Orphanet:1838 {source="MONDO:equivalentObsolete", source="OMIM:250460"} xref: UMLS:C1834821 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:250460"} is_a: MONDO:0009595 ! cartilage-hair hypoplasia property_value: exactMatch http://identifiers.org/mesh/C563574 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834821 property_value: exactMatch https://omim.org/entry/250460 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10622/metaphyseal-dysplasia-without-hypotrichosis xsd:anyURI {source="GARD:0010622"} [Term] id: MONDO:0009603 name: 3-hydroxyisobutyryl-CoA hydrolase deficiency def: "Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterized by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established." [Orphanet:88639] subset: ordo_disease {source="Orphanet:88639"} synonym: "3-hydroxyisobutryl-CoA hydrolase deficiency" EXACT [OMIM:250620, OMIM:genemap2] synonym: "3-hydroxyisobutyryl-CoA hydrolase deficiency" EXACT [MONDO:Lexical, OMIM:250620] synonym: "beta-hydroxyisobutyryl Coa deacylase deficiency" RELATED [OMIM:250620] synonym: "Beta-hydroxyisobutyryl-CoA deacylase deficiency" RELATED [GARD:0013202] synonym: "HIBCH deficiency" EXACT [OMIM:250620, Orphanet:88639] synonym: "HIBCHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:250620] synonym: "methacrylic acid toxicity" RELATED [OMIM:250620] synonym: "methacrylic aciduria" EXACT [OMIM:250620, Orphanet:88639] synonym: "neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency" EXACT [https://orcid.org/0000-0002-5655-9589] synonym: "valine metabolic defect" RELATED [OMIM:250620, Orphanet:88639] xref: MESH:C562803 {source="MONDO:equivalentTo"} xref: OMIM:250620 {source="MONDO:equivalentTo", source="Orphanet:88639", source="Orphanet:88639/e"} xref: Orphanet:88639 {source="MONDO:equivalentTo", source="OMIM:250620"} xref: SCTID:722488009 {source="MONDO:equivalentTo"} is_a: MONDO:0019215 {source="Orphanet:88639"} ! classic organic aciduria is_a: MONDO:0019242 ! inborn disorder of branched-chain amino acid metabolism is_a: MONDO:0037870 ! valine metabolism disease property_value: exactMatch http://identifiers.org/mesh/C562803 property_value: exactMatch http://identifiers.org/snomedct/722488009 property_value: exactMatch https://omim.org/entry/250620 property_value: exactMatch Orphanet:88639 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0009607 name: methionine adenosyltransferase deficiency def: "Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination." [Orphanet:168598] subset: ordo_disease {source="Orphanet:168598"} synonym: "brain demyelination due to methionine adenosyltransferase deficiency" EXACT [ClinGen:AminoacidopathyGeneCurationPanel, https://orcid.org/0000-0002-5655-9589] synonym: "hypermethioninemia, isolated persistent" RELATED [OMIM:250850] synonym: "hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency" EXACT [OMIM:250850, OMIM:genemap2] synonym: "isolated persistent hypermethioninemia" EXACT [NCIT:C123435] synonym: "MAT deficiency" EXACT [Orphanet:168598] synonym: "MAT I/III deficiency" EXACT [Orphanet:168598] synonym: "Mat I/III deficiency" RELATED [OMIM:250850] synonym: "methionine adenosyltransferase deficiency" EXACT [OMIM:250850, Orphanet:168598] synonym: "methionine adenosyltransferase deficiency, autosomal recessive" EXACT [OMIM:250850, OMIM:genemap2] synonym: "methionine adenosyltransferase I/III deficiency" RELATED [OMIM:250850] xref: NCIT:C123435 {source="MONDO:equivalentTo"} xref: OMIM:250850 {source="Orphanet:168598", source="MONDO:equivalentTo", source="Orphanet:168598/e"} xref: Orphanet:168598 {source="MONDO:equivalentTo", source="OMIM:250850"} is_a: MONDO:0019222 {source="Orphanet:168598"} ! inborn disorder of methionine cycle and sulfur amino acid metabolism property_value: exactMatch https://omim.org/entry/250850 property_value: exactMatch NCIT:C123435 property_value: exactMatch Orphanet:168598 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009609 name: methylcobalamin deficiency type cblG def: "Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine." [https://rarediseases.info.nih.gov/diseases/3577/methylcobalamin-deficiency-cbl-g-type] subset: gard_rare {source="GARD:0003577"} subset: ordo_clinical_subtype {source="Orphanet:2170"} synonym: "cblG" RELATED [GARD:0003577] synonym: "functional methionine synthase deficiency type cblG" EXACT [Orphanet:2170] synonym: "HMAG" RELATED ABBREVIATION [MONDO:Lexical, OMIM:250940] synonym: "homocystinuria due to defect in methylation Cbl g" RELATED [GARD:0002733] synonym: "homocystinuria-megaloblastic Anaemia due to defect in cobalamin metabolism, cblG complementation type" RELATED OMO:0003005 [] synonym: "homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblG complementation type" RELATED [OMIM:250940] synonym: "homocystinuria-megaloblastic anemia, cblG complementation type" RELATED [GARD:0003577, MONDO:Lexical, OMIM:250940] synonym: "methionine synthase deficiency" RELATED [OMIM:250940] synonym: "methylcobalamin deficiency Cbl G type" RELATED [GARD:0003577] synonym: "methylcobalamin deficiency type cblG" EXACT [] synonym: "methylcobalamin deficiency, cblG type" RELATED [OMIM:250940] synonym: "methylmalonic aciduria and homocystinuria type cblG" RELATED [DOID:0050733] xref: DOID:0050733 {source="EFO:0005597", source="MONDO:equivalentTo"} xref: DOID:0112256 {source="MONDO:equivalentTo"} xref: EFO:0005597 {source="MONDO:equivalentTo"} xref: OMIM:250940 {source="Orphanet:2170/e", source="MONDO:equivalentTo", source="Orphanet:2170"} xref: Orphanet:2170 {source="MONDO:equivalentTo", source="OMIM:250940"} xref: SCTID:721187005 {source="MONDO:equivalentTo"} is_a: MONDO:0018964 {source="Orphanet:2170"} ! homocystinuria without methylmalonic aciduria property_value: exactMatch DOID:0050733 property_value: exactMatch DOID:0112256 property_value: exactMatch http://identifiers.org/snomedct/721187005 property_value: exactMatch https://omim.org/entry/250940 property_value: exactMatch Orphanet:2170 property_value: excluded_subClassOf MONDO:0005240 {source="Orphanet:2170/inferred"} property_value: excluded_subClassOf MONDO:0019737 {source="Orphanet:2170"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3577/methylcobalamin-deficiency-cbl-g-type xsd:anyURI {source="GARD:0003577"} [Term] id: MONDO:0009610 name: 3-methylglutaconic aciduria type 1 def: "3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia." [Orphanet:67046] subset: ordo_disease {source="Orphanet:67046"} synonym: "3 alpha methylglutaconic aciduria type I" RELATED [GARD:0010321] synonym: "3 methylglutaconic aciduria type 1" RELATED [GARD:0010321] synonym: "3 methylglutaconyl CoA hydratase deficiency" RELATED [GARD:0010321] synonym: "3-methylglutaconic aciduria caused by mutation in AUH" EXACT [] synonym: "3-methylglutaconic aciduria caused by mutation in auh" EXACT [MONDO:design_pattern] synonym: "3-methylglutaconic aciduria type 1" EXACT [] synonym: "3-methylglutaconic aciduria type I" EXACT [DOID:0110002] synonym: "3-Methylglutaconic aciduria, type 1" RELATED [OMIM:250950] synonym: "3-METHYLGLUTACONIC aciduria, type I" RELATED [MONDO:Lexical, OMIM:250950] synonym: "3-methylglutaconyl-CoA hydratase deficiency" EXACT [DOID:0110002, Orphanet:67046] synonym: "3-methylglutaconyl-Coa hydratase deficiency" RELATED [OMIM:250950] synonym: "3-methylglutaconyl-CoA hydratase deficiency (auh defect)" RELATED [GARD:0010321] synonym: "3-Mg-Coa-hydratase deficiency" RELATED [OMIM:250950] synonym: "3-MGCA type I (3-MGCA-1)" RELATED [GARD:0010321] synonym: "3MG CoA hydratase deficiency" RELATED [GARD:0010321] synonym: "3MG-CoA hydratase deficiency" EXACT [DOID:0110002, Orphanet:67046] synonym: "AUH 3-methylglutaconic aciduria" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "auh 3-methylglutaconic aciduria" EXACT [MONDO:design_pattern] synonym: "MGA type I" EXACT [DOID:0110002] synonym: "Mga, type 1" RELATED [OMIM:250950] synonym: "MGA1" EXACT ABBREVIATION [DOID:0110002, Orphanet:67046] synonym: "MGCA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:250950] xref: DOID:0110002 {source="MONDO:equivalentTo"} xref: MESH:C562801 {source="MONDO:equivalentTo"} xref: NCIT:C98683 {source="MONDO:equivalentTo"} xref: OMIM:250950 {source="Orphanet:67046/e", source="MONDO:equivalentTo", source="DOID:0110002", source="Orphanet:67046"} xref: Orphanet:67046 {source="MONDO:equivalentTo", source="DOID:0110002", source="OMIM:250950"} xref: SCTID:237951008 {source="MONDO:equivalentTo"} xref: UMLS:C0342727 {source="Orphanet:67046/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C98683", source="Orphanet:67046", source="OMIM:250950"} xref: UMLS:C0342728 {source="Orphanet:67046/e", source="MONDO:equivalentObsolete", source="Orphanet:67046"} is_a: MONDO:0017359 {source="DC-OMIM:250950", source="DOID:0110002", source="MONDO:Redundant", source="NCIT:C98683", source="OMIM:250950", source="Orphanet:67046"} ! 3-methylglutaconic aciduria property_value: exactMatch DOID:0110002 property_value: exactMatch http://identifiers.org/mesh/C562801 property_value: exactMatch http://identifiers.org/snomedct/237951008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342727 property_value: exactMatch https://omim.org/entry/250950 property_value: exactMatch NCIT:C98683 property_value: exactMatch Orphanet:67046 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0009611 name: 3-methylglutaconic aciduria type 4 def: "3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterized by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III)." [Orphanet:67048] subset: gard_rare subset: ordo_disease {source="Orphanet:67048"} synonym: "3 alpha methylglutaconic aciduria type IV" RELATED [GARD:0010342] synonym: "3 methylglutaconic aciduria type IV" RELATED [GARD:0010342] synonym: "3-methylglutaconic aciduria type IV" EXACT [DOID:0110006] synonym: "3-Methylglutaconic aciduria, type 4" RELATED [OMIM:250951] synonym: "3-METHYLGLUTACONIC aciduria, type IV" RELATED [MONDO:Lexical, OMIM:250951] synonym: "MGA type IV" EXACT [DOID:0110006] synonym: "Mga, type 4" RELATED [OMIM:250951] synonym: "MGA4" EXACT ABBREVIATION [DOID:0110006, Orphanet:67048] synonym: "MGCA4" EXACT ABBREVIATION [DOID:0110006, MONDO:Lexical, OMIM:250951] synonym: "Not otherwise specified 3-MGA-Uria type" RELATED [GARD:0010342] xref: DOID:0110006 {source="MONDO:equivalentTo"} xref: MESH:C565393 {source="MONDO:equivalentTo"} xref: OMIM:250951 {source="DOID:0110006", source="GARD:0010342", source="Orphanet:67048/e", source="MONDO:equivalentTo", source="Orphanet:67048"} xref: Orphanet:67048 {source="DOID:0110006", source="GARD:0010342", source="MONDO:equivalentTo", source="OMIM:250951"} xref: SCTID:297233004 {source="MONDO:equivalentTo"} xref: UMLS:C0574085 {source="MONDO:equivalentObsolete", source="Orphanet:67048/e", source="Orphanet:67048"} xref: UMLS:C1855126 {source="GARD:0010342", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:250951", source="Orphanet:67048"} is_a: MONDO:0017359 {source="DC-OMIM:250951", source="DOID:0110006", source="OMIM:250951", source="Orphanet:67048"} ! 3-methylglutaconic aciduria property_value: exactMatch DOID:0110006 property_value: exactMatch http://identifiers.org/mesh/C565393 property_value: exactMatch http://identifiers.org/snomedct/297233004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855126 property_value: exactMatch https://omim.org/entry/250951 property_value: exactMatch Orphanet:67048 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10342/not-otherwise-specified-3-mga-uria-type xsd:anyURI {source="GARD:0010342"} [Term] id: MONDO:0009612 name: methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency def: "Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-." [Orphanet:27] subset: ordo_disease {source="Orphanet:27"} synonym: "MCM deficiency" RELATED [GARD:0003586] synonym: "methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency" EXACT [DOID:0060740] synonym: "methylmalonic acidemia due to methylmalonyl-Coa mutase deficiency MMA due to MCM deficiency" RELATED [OMIM:251000] synonym: "methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency" EXACT [OMIM:251000] synonym: "methylmalonic aciduria mut type" EXACT [DOID:0060740] synonym: "methylmalonic aciduria, mut type" RELATED [OMIM:251000] synonym: "methylmalonic aciduria, mut(-) type" RELATED [OMIM:251000] synonym: "methylmalonic aciduria, mut(0) type" RELATED [OMIM:251000] synonym: "methylmalonyl-CoA mutase deficiency" EXACT [Orphanet:27] synonym: "methylmalonyl-Coenzyme A mutase deficiency" EXACT [Orphanet:27] synonym: "vitamin B12-unresponsive methylmalonic acidemia" RELATED [Orphanet:27] synonym: "vitamin B12-unresponsive methylmalonic aciduria" EXACT [DOID:0060740, Orphanet:27] xref: DOID:0060740 {source="MONDO:equivalentTo"} xref: MESH:C565390 {source="MONDO:equivalentTo"} xref: NCIT:C148366 {source="MONDO:equivalentTo"} xref: OMIM:251000 {source="DOID:0060740", source="MONDO:equivalentTo", source="Orphanet:27", source="Orphanet:27/e"} xref: Orphanet:27 {source="DOID:0060740", source="MONDO:equivalentTo", source="OMIM:251000"} xref: UMLS:C1855114 {source="MONDO:equivalentTo", source="Orphanet:27", source="MONDO:ncbi_mim2gene_medline", source="OMIM:251000"} is_a: MONDO:0002012 {source="Orphanet:27"} ! methylmalonic acidemia is_a: MONDO:0019215 ! classic organic aciduria property_value: exactMatch DOID:0060740 property_value: exactMatch http://identifiers.org/mesh/C565390 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855114 property_value: exactMatch https://omim.org/entry/251000 property_value: exactMatch NCIT:C148366 property_value: exactMatch Orphanet:27 [Term] id: MONDO:0009613 name: methylmalonic aciduria, cblA type def: "An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein." [NCIT:C142171] subset: ordo_clinical_subtype {source="Orphanet:79310"} synonym: "cblA - cobalamin locus a" RELATED [] synonym: "cblA methylmalonic acidemia" RELATED [] synonym: "cblB - cobalamin locus b" RELATED [] synonym: "cblB methylmalonic acidemia" RELATED [] synonym: "cobalamin A disease" EXACT [] synonym: "cobalamin B disease" EXACT [] synonym: "cobalamin locus A variant" RELATED [] synonym: "cobalamin locus B variant" RELATED [] synonym: "methylmalonic acidemia cblA type" EXACT [DOID:0060742, GARD:0005500] synonym: "methylmalonic acidemia, cblA type" EXACT [OMIM:251100] synonym: "methylmalonic aciduria cblA type" EXACT [DOID:0060742, GARD:0005500] synonym: "methylmalonic aciduria, cblA type" EXACT [https://orcid.org/0000-0002-5655-9589, OMIM:251100, PMID:17597648, PMID:33340416] synonym: "methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type" EXACT [DOID:0060742] synonym: "methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cblA type" EXACT [DOID:0060742] synonym: "Methylmalonic aciduria, vitamin B12-responsive, cblA type" EXACT [OMIM:251100, OMIM:genemap2] synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA complementation type" RELATED [GARD:0005500] synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type" RELATED [OMIM:251100] synonym: "MMA Cbl A type" RELATED [GARD:0005500] synonym: "vitamin B12-responsive methylmalonic acidemia type cblA" EXACT [Orphanet:79310] synonym: "vitamin B12-responsive methylmalonic aciduria type cblA" EXACT [Orphanet:79310] xref: DOID:0060742 {source="MONDO:equivalentTo"} xref: NCIT:C142171 {source="MONDO:equivalentTo"} xref: OMIM:251100 {source="Orphanet:79310/e", source="MONDO:equivalentTo", source="DOID:0060742", source="Orphanet:79310"} xref: Orphanet:79310 {source="MONDO:equivalentTo", source="DOID:0060742", source="OMIM:251100"} xref: SCTID:73843004 {source="MONDO:equivalentTo"} xref: SCTID:82245003 {source="MONDO:equivalentTo"} xref: UMLS:C0342721 {source="MONDO:equivalentTo"} xref: UMLS:C0342722 {source="MONDO:equivalentTo"} xref: UMLS:C1855109 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:251100"} is_a: MONDO:0017214 {source="Orphanet:79310"} ! vitamin B12-responsive methylmalonic acidemia property_value: exactMatch DOID:0060742 property_value: exactMatch http://identifiers.org/snomedct/73843004 property_value: exactMatch http://identifiers.org/snomedct/82245003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342721 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342722 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855109 property_value: exactMatch https://omim.org/entry/251100 property_value: exactMatch NCIT:C142171 property_value: exactMatch Orphanet:79310 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4917 xsd:anyURI [Term] id: MONDO:0009614 name: methylmalonic aciduria, cblB type def: "An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial." [NCIT:C142172] subset: ordo_clinical_subtype {source="Orphanet:79311"} synonym: "methylmalonic acidemia cblB type" EXACT [DOID:0060743, GARD:0009479] synonym: "methylmalonic acidemia, cblB type" EXACT [OMIM:251110] synonym: "methylmalonic aciduria cblB type" EXACT [DOID:0060743] synonym: "methylmalonic aciduria, cblB type" EXACT [https://orcid.org/0000-0002-5655-9589, OMIM:251110, PMID:17597648, PMID:33340416] synonym: "methylmalonic aciduria, vitamin B12-responsive, cblB type" EXACT [OMIM:251110, OMIM:genemap2] synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type" EXACT [DOID:0060743] synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type" RELATED [OMIM:251110] synonym: "vitamin B12-responsive methylmalonic acidemia type cblB" EXACT [Orphanet:79311] synonym: "vitamin B12-responsive methylmalonic aciduria, type cblB" EXACT [Orphanet:79311] xref: DOID:0060743 {source="MONDO:equivalentTo"} xref: NCIT:C142172 {source="MONDO:equivalentTo"} xref: OMIM:251110 {source="Orphanet:79311/e", source="DOID:0060743", source="MONDO:equivalentTo", source="Orphanet:79311"} xref: Orphanet:79311 {source="DOID:0060743", source="MONDO:equivalentTo", source="OMIM:251110"} xref: UMLS:C1855102 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:251110"} is_a: MONDO:0017214 {source="Orphanet:79311"} ! vitamin B12-responsive methylmalonic acidemia property_value: exactMatch DOID:0060743 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855102 property_value: exactMatch https://omim.org/entry/251110 property_value: exactMatch NCIT:C142172 property_value: exactMatch Orphanet:79311 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4916 xsd:anyURI [Term] id: MONDO:0009615 name: methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency def: "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic." [Orphanet:308425] subset: ordo_disease {source="Orphanet:308425"} synonym: "MCEE deficiency" EXACT [Orphanet:308425] synonym: "methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency" EXACT [] synonym: "methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency" EXACT [Orphanet:308425] synonym: "methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency" EXACT [Orphanet:308425] synonym: "methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency" EXACT [Orphanet:308425] synonym: "methylmalonic aciduria III" RELATED [OMIM:251120] synonym: "methylmalonic aciduria III, formerly" RELATED [OMIM:251120] synonym: "methylmalonyl-CoA epimerase deficiency" RELATED [OMIM:251120] synonym: "methylmalonyl-Coa epimerase deficiency with sepiapterin reductase deficiency" RELATED [OMIM:251120] synonym: "methylmalonyl-Coa racemase deficiency" RELATED [OMIM:251120] xref: MESH:C565386 {source="MONDO:equivalentTo"} xref: OMIM:251120 {source="Orphanet:308425/e", source="MONDO:equivalentTo", source="Orphanet:308425"} xref: Orphanet:308425 {source="MONDO:equivalentTo", source="OMIM:251120"} xref: SCTID:765137006 {source="MONDO:equivalentTo"} xref: UMLS:C1855100 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:251120", source="Orphanet:308425"} is_a: MONDO:0002012 {source="Orphanet:308425"} ! methylmalonic acidemia property_value: exactMatch http://identifiers.org/mesh/C565386 property_value: exactMatch http://identifiers.org/snomedct/765137006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855100 property_value: exactMatch https://omim.org/entry/251120 property_value: exactMatch Orphanet:308425 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0009616 name: microcephalic primordial dwarfism, Toriello type def: "Microcephalic primordial dwarfism, Toriello type is characterized by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive." [Orphanet:2643] subset: gard_rare {source="GARD:0003602"} subset: ordo_malformation_syndrome {source="Orphanet:2643"} synonym: "microcephalic primordial dwarfism and cataracts" RELATED [GARD:0003602] synonym: "microcephalic primordial dwarfism Toriello type" RELATED [GARD:0003602] synonym: "microcephalic primordial dwarfism, Toriello type" EXACT [OMIM:251190] xref: MESH:C537321 {source="Orphanet:2643", source="MONDO:equivalentTo", source="Orphanet:2643/e"} xref: OMIM:251190 {source="Orphanet:2643", source="MONDO:equivalentTo", source="Orphanet:2643/e"} xref: Orphanet:2643 {source="OMIM:251190", source="MONDO:equivalentTo"} xref: SCTID:715482004 {source="MONDO:equivalentTo"} xref: UMLS:C1855089 {source="OMIM:251190", source="Orphanet:2643", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2643/e"} is_a: MONDO:0017950 {source="DC-OMIM:251190", source="Orphanet:2643"} ! microcephalic primordial dwarfism property_value: exactMatch http://identifiers.org/mesh/C537321 property_value: exactMatch http://identifiers.org/snomedct/715482004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855089 property_value: exactMatch https://omim.org/entry/251190 property_value: exactMatch Orphanet:2643 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3602/microcephalic-primordial-dwarfism-toriello-type xsd:anyURI {source="GARD:0003602"} [Term] id: MONDO:0009617 name: microcephaly 1, primary, autosomal recessive def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the MCPH1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive primary microcephaly caused by mutation in MCPH1" EXACT [MONDO:design_pattern] synonym: "MCPH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251200] synonym: "MCPH1 autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "microcephaly 1, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:251200] synonym: "PCC syndrome" RELATED [OMIM:251200] synonym: "premature chromosome condensation syndrome" RELATED [OMIM:251200] synonym: "premature chromosome condensation with microcephaly and intellectual disability" RELATED [OMIM:251200] synonym: "premature chromosome condensation with microcephaly and mental retardation" RELATED DEPRECATED [OMIM:251200] xref: DOID:0070285 {source="MONDO:equivalentTo"} xref: MESH:C565384 {source="MONDO:equivalentTo"} xref: OMIM:251200 {source="MONDO:equivalentTo"} xref: Orphanet:52183 {source="MONDO:equivalentObsolete", source="OMIM:251200"} xref: UMLS:C1855081 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:251200"} is_a: MONDO:0016660 {source="DC-OMIM:251200", source="MONDO:Redundant", source="OMIM:251200"} ! autosomal recessive primary microcephaly is_a: MONDO:0100200 {source="https://clinicalgenome.org/affiliation/40006/"} ! microcephaly with intellectual disability property_value: exactMatch DOID:0070285 property_value: exactMatch http://identifiers.org/mesh/C565384 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855081 property_value: exactMatch https://omim.org/entry/251200 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5725 xsd:anyURI [Term] id: MONDO:0009618 name: microcephaly-cardiomyopathy syndrome def: "A syndrome characterized by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive." [Orphanet:2515] subset: ordo_malformation_syndrome {source="Orphanet:2515"} synonym: "microcephaly with cardiomyopathy" RELATED [GARD:0003609] synonym: "microcephaly-cardiomyopathy" RELATED [OMIM:251220] synonym: "severe microcephaly and self-limiting dilated cardiomyopathy" RELATED [GARD:0003609] synonym: "severe microcephaly with intellectual disability and dilated cardiomyopathy" RELATED [GARD:0003609] synonym: "severe microcephaly with mental retardation and dilated cardiomyopathy" RELATED DEPRECATED [GARD:0003609] synonym: "Winship-Viljoen-Leary syndrome" EXACT [Orphanet:2515] xref: MESH:C536711 {source="MONDO:equivalentTo", source="Orphanet:2515", source="Orphanet:2515/e"} xref: OMIM:251220 {source="MONDO:equivalentTo", source="Orphanet:2515", source="Orphanet:2515/e"} xref: Orphanet:2515 {source="MONDO:equivalentTo", source="OMIM:251220"} xref: SCTID:719380003 {source="MONDO:equivalentTo"} xref: UMLS:C1855080 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:251220", source="Orphanet:2515", source="Orphanet:2515/e"} is_a: MONDO:0015159 {source="Orphanet:2515"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C536711 property_value: exactMatch http://identifiers.org/snomedct/719380003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855080 property_value: exactMatch https://omim.org/entry/251220 property_value: exactMatch Orphanet:2515 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2515"} property_value: excluded_subClassOf MONDO:0016337 {source="Orphanet:2515"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0009619 name: microcephaly-micromelia syndrome synonym: "microcephaly-micromelia syndrome" EXACT [OMIM:251230] synonym: "MIMIS" RELATED ABBREVIATION [OMIM:251230] xref: MESH:C565382 {source="MONDO:equivalentTo"} xref: OMIM:251230 {source="MONDO:equivalentTo"} xref: Orphanet:572768 {source="MONDO:equivalentTo"} xref: UMLS:C1855079 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:251230"} is_a: EFO:0000508 {source="MESH:C565382/inferred"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C565382 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855079 property_value: exactMatch https://omim.org/entry/251230 property_value: exactMatch Orphanet:572768 [Term] id: MONDO:0009620 name: Say-Barber-Miller syndrome def: "Say-Barber-Miller syndrome is characterized by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation." [Orphanet:3132] subset: gard_rare {source="GARD:0000239"} subset: ordo_malformation_syndrome {source="Orphanet:3132"} synonym: "microcephaly hypogammaglobulinemia abnormal immunity" RELATED [GARD:0000239] synonym: "microcephaly with chemotactic defect and transient hypogammaglobulinemia" RELATED [OMIM:251240] synonym: "microcephaly-hypogammaglobulinemia-abnormal immunity syndrome" EXACT [Orphanet:3132] synonym: "Say Barber Miller syndrome" RELATED [GARD:0000239] xref: MESH:C536618 {source="Orphanet:3132/e", source="MONDO:equivalentTo", source="Orphanet:3132"} xref: OMIM:251240 {source="Orphanet:3132/e", source="MONDO:equivalentTo", source="Orphanet:3132"} xref: Orphanet:3132 {source="MONDO:equivalentTo", source="OMIM:251240"} xref: SCTID:721903007 {source="MONDO:equivalentTo"} is_a: MONDO:0015132 {source="MONDO:0018041-obsoleted"} ! immunodeficiency predominantly affecting antibody production is_a: MONDO:0015159 {source="Orphanet:3132"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C536618 property_value: exactMatch http://identifiers.org/snomedct/721903007 property_value: exactMatch https://omim.org/entry/251240 property_value: exactMatch Orphanet:3132 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3132"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/239/say-barber-miller-syndrome xsd:anyURI {source="GARD:0000239"} [Term] id: MONDO:0009621 name: microcephaly-cervical spine fusion anomalies syndrome def: "Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive." [Orphanet:2522] subset: ordo_malformation_syndrome {source="Orphanet:2522"} synonym: "microcephaly cervical spine fusion anomalies" RELATED [GARD:0003610] synonym: "microcephaly with cervical spine fusion anomalies" RELATED [OMIM:251250] synonym: "microcephaly, mild intellectual disability, short stature, and skeletal anomalies" RELATED [GARD:0003610] synonym: "microcephaly, mild mental retardation, short stature, and skeletal anomalies" RELATED DEPRECATED [GARD:0003610] xref: MESH:C537325 {source="Orphanet:2522", source="MONDO:equivalentTo", source="Orphanet:2522/e"} xref: OMIM:251250 {source="Orphanet:2522", source="MONDO:equivalentTo", source="Orphanet:2522/e"} xref: Orphanet:2522 {source="MONDO:equivalentTo", source="OMIM:251250"} xref: SCTID:715462003 {source="MONDO:equivalentTo"} xref: UMLS:C0796066 {source="Orphanet:2522", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:251250", source="Orphanet:2522/e"} is_a: MONDO:0015159 {source="Orphanet:2522"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C537325 property_value: exactMatch http://identifiers.org/snomedct/715462003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796066 property_value: exactMatch https://omim.org/entry/251250 property_value: exactMatch Orphanet:2522 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2522"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0009622 name: Jawad syndrome def: "Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated." [Orphanet:313795] subset: ordo_malformation_syndrome {source="Orphanet:313795"} synonym: "JAWAD syndrome" RELATED [OMIM:251255] synonym: "Jawad syndrome" EXACT [MONDO:Lexical, OMIM:251255] synonym: "JWDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251255] synonym: "Kelly syndrome" RELATED [OMIM:251255] synonym: "microcephaly with intellectual disability and digital anomalies" RELATED [OMIM:251255] synonym: "microcephaly with mental retardation and digital anomalies" RELATED DEPRECATED [OMIM:251255] xref: OMIM:251255 {source="Orphanet:313795", source="MONDO:equivalentTo", source="Orphanet:313795/e"} xref: Orphanet:313795 {source="MONDO:equivalentTo", source="OMIM:251255"} xref: UMLS:C0796063 {source="Orphanet:313795", source="MONDO:equivalentTo", source="OMIM:251255"} is_a: MONDO:0015159 {source="Orphanet:313795"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796063 property_value: exactMatch https://omim.org/entry/251255 property_value: exactMatch Orphanet:313795 [Term] id: MONDO:0009623 name: Nijmegen breakage syndrome def: "Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections." [Orphanet:647] subset: gard_rare {source="GARD:0003904"} subset: ordo_malformation_syndrome {source="Orphanet:647"} synonym: "AT V1" EXACT [Orphanet:647] synonym: "ataxia-telangiectasia variant V1" RELATED [OMIM:251260] synonym: "ataxia-telangiectasia variant V2" RELATED [OMIM:251260] synonym: "ataxia-telangiectasia, variant 1" EXACT [Orphanet:647] synonym: "Berlin breakage syndrome" EXACT [DOID:7400, OMIM:251260, Orphanet:647] synonym: "immunodeficiency, microcephaly, and chromosomal instability" RELATED [OMIM:251260] synonym: "immunodeficiency-microcephaly-chromosomal instability syndrome" EXACT [Orphanet:647] synonym: "microcephaly immunodeficiency lymphoreticuloma" RELATED [GARD:0003904] synonym: "microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies" RELATED [GARD:0003904] synonym: "microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies" RELATED [OMIM:251260] synonym: "microcephaly, normal intelligence and immunodeficiency" EXACT [DOID:7400] synonym: "microcephaly-immunodeficiency-lymphoreticuloma syndrome" EXACT [Orphanet:647] synonym: "NBs" EXACT [Orphanet:647] synonym: "Nijmegen breakage syndrome" EXACT [OMIM:251260] synonym: "Nonsyndromal microcephaly autosomal recessive with normal intelligence" RELATED [GARD:0003904] synonym: "Nonsyndromal microcephaly, autosomal recessive, with normal intelligence" RELATED [OMIM:251260] synonym: "Seemanova syndrome" EXACT [DOID:7400] synonym: "Seemanova syndrome 2" RELATED [OMIM:251260] synonym: "Seemanova syndrome type 2" EXACT [Orphanet:647] xref: DOID:7400 {source="MONDO:equivalentTo"} xref: MedDRA:10067857 {source="Orphanet:647", source="Orphanet:647/e"} xref: MESH:D049932 {source="DOID:7400", source="Orphanet:647", source="MONDO:equivalentTo", source="Orphanet:647/e"} xref: NCIT:C4692 {source="DOID:7400", source="MONDO:equivalentTo"} xref: OMIM:251260 {source="DOID:7400", source="Orphanet:647", source="MONDO:equivalentTo", source="Orphanet:647/e"} xref: Orphanet:647 {source="OMIM:251260", source="MONDO:equivalentTo"} xref: SCTID:234638009 {source="DOID:7400", source="MONDO:equivalentTo"} xref: UMLS:C0398791 {source="DOID:7400", source="NCIT:C4692", source="OMIM:251260", source="Orphanet:647", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:647/e"} xref: UMLS:CN860323 {source="MONDO:equivalentTo"} is_a: EFO:0008499 {source="MESH:D049932", source="MONDO:Redundant", source="NCIT:C4692"} ! DNA repair deficiency is_a: EFO:1000017 {source="DOID:7400", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015161 {source="Orphanet:647"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015327 ! developmental anomaly of metabolic origin relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: closeMatch http://identifiers.org/meddra/10067857 property_value: exactMatch DOID:7400 property_value: exactMatch http://identifiers.org/mesh/D049932 property_value: exactMatch http://identifiers.org/snomedct/234638009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398791 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN860323 property_value: exactMatch https://omim.org/entry/251260 property_value: exactMatch NCIT:C4692 property_value: exactMatch Orphanet:647 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3904/nijmegen-breakage-syndrome xsd:anyURI {source="GARD:0003904"} [Term] id: MONDO:0009624 name: microcephaly and chorioretinopathy 1 def: "An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy." [NCIT:C129306] subset: ordo_malformation_syndrome {source="Orphanet:2518"} synonym: "autosomal recessive chorioretinopathy-microcephaly syndrome" RELATED [Orphanet:2518] synonym: "autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome" EXACT [Orphanet:2518] synonym: "MCCRP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251270] synonym: "microcephaly and chorioretinopathy 1" EXACT [] synonym: "microcephaly and chorioretinopathy caused by mutation in TUBGCP6" EXACT [MONDO:design_pattern] synonym: "microcephaly and chorioretinopathy type 1" EXACT [DOID:0080105, MONDORULE:1] synonym: "microcephaly and chorioretinopathy, autosomal recessive, 1" RELATED [MONDO:Lexical, OMIM:251270] synonym: "microcephaly and chorioretinopathy, autosomal recessive, type 1" EXACT [MONDORULE:1, OMIM:251270] synonym: "Pseudotoxoplasmosis syndrome" EXACT [Orphanet:2518] synonym: "TUBGCP6 microcephaly and chorioretinopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080105 {source="MONDO:equivalentTo"} xref: NCIT:C129306 {source="MONDO:equivalentTo"} xref: OMIM:251270 {source="Orphanet:2518/e", source="MONDO:equivalentTo", source="DOID:0080105", source="Orphanet:2518"} xref: Orphanet:2518 {source="OMIM:251270", source="MONDO:equivalentTo"} is_a: MONDO:0000181 {source="DC-OMIM:251270", source="MONDO:Redundant", source="OMIM:251270"} ! microcephaly and chorioretinopathy is_a: MONDO:0002254 {source="DOID:0080105"} ! syndromic disease is_a: MONDO:0019118 {source="Orphanet:2518"} ! inherited retinal dystrophy relationship: disease_has_feature MONDO:0019118 ! inherited retinal dystrophy property_value: exactMatch DOID:0080105 property_value: exactMatch https://omim.org/entry/251270 property_value: exactMatch NCIT:C129306 property_value: exactMatch Orphanet:2518 property_value: excluded_subClassOf MONDO:0015368 {source="MONDO:0020262-obsoleted"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/pull/2571/ xsd:anyURI [Term] id: MONDO:0009626 name: pseudo-TORCH syndrome def: "A Mendelian disease characterized by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent." [Orphanet:1229] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1229"} subset: prototype_pattern synonym: "band-like calcification with simplified gyration and polymicrogyria" EXACT [DOID:0050656, MONDO:Lexical, OMIM:251290] synonym: "Baraitser Brett Piesowicz syndrome" RELATED [GARD:0000815] synonym: "Baraitser-Brett-Piesowicz syndrome" EXACT [Orphanet:1229] synonym: "Baraitser-Reardon syndrome" EXACT [Orphanet:1229] synonym: "bilateral band-like calcification with polymicrogyria" EXACT [Orphanet:1229] synonym: "BLC-PMG" EXACT [Orphanet:1229] synonym: "BLCPMG" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251290] synonym: "congenital intrauterine infection-like syndrome" RELATED [Orphanet:1229] synonym: "microcephaly - intracranial calcification - intellectual disability" RELATED [GARD:0012426] synonym: "microcephaly intracranial calcification" RELATED [GARD:0000815] synonym: "microcephaly-intracranial calcification-intellectual disability syndrome" EXACT [Orphanet:1229] synonym: "pseudo-TORCH syndrome" EXACT [OMIM:251290, Orphanet:1229] xref: DOID:0050656 {source="MONDO:equivalentTo"} xref: OMIMPS:251290 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:1229 {source="OMIM:251290", source="MONDO:equivalentTo"} xref: SCTID:722390006 {source="MONDO:equivalentTo"} xref: UMLS:C3489725 {source="Orphanet:1229/e", source="OMIM:251290", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1229"} is_a: EFO:1000017 {source="DOID:0050656", source="MONDO:Redundant"} ! autosomal recessive disease property_value: exactMatch DOID:0050656 property_value: exactMatch http://identifiers.org/snomedct/722390006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3489725 property_value: exactMatch https://omim.org/phenotypicSeries/PS251290 property_value: exactMatch Orphanet:1229 [Term] id: MONDO:0009627 name: Galloway-Mowat syndrome def: "Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies." [Orphanet:2065] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2065"} subset: prototype_pattern synonym: "cerebellar ataxia with intellectual disability, optic atrophy, and skin abnormalities" RELATED [OMIM:251300] synonym: "cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities" RELATED DEPRECATED [OMIM:251300] synonym: "Galloway Mowat syndrome" RELATED [GARD:0000065] synonym: "Galloway syndrome" EXACT [DOID:0060364, Orphanet:2065] synonym: "Galloway-Mowat syndrome" EXACT [MONDO:Lexical, OMIM:251300] synonym: "GAMOS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251300] synonym: "hiatal hernia-microcephaly-nephrosis, Galloway type" RELATED [GARD:0000065] synonym: "microcephaly nephrosis syndrome" RELATED [GARD:0000065] synonym: "microcephaly, hiatal hernia and nephrotic syndrome" EXACT [DOID:0060364] synonym: "microcephaly, hiatal hernia, and nephrotic syndrome" RELATED [GARD:0000065, OMIM:251300] synonym: "microcephaly-hiatus hernia-nephrotic syndrome" EXACT [Orphanet:2065] synonym: "nephrosis neuronal dysmigration syndrome" RELATED [GARD:0000065] synonym: "nephrosis-microcephaly syndrome" EXACT [DOID:0060364] synonym: "nephrosis-neuronal dysmigration syndrome" EXACT [DOID:0060364, Orphanet:2065] synonym: "spinocerebellar ataxia, autosomal recessive 5" EXACT [OMIM:251300] synonym: "spinocerebellar ataxia, autosomal recessive 5, formerly" RELATED [OMIM:251300] xref: DOID:0080694 {source="MONDO:equivalentTo"} xref: MESH:C537548 {source="DOID:0060364", source="Orphanet:2065/e", source="DOID:0080694", source="MONDO:equivalentTo", source="Orphanet:2065"} xref: NCIT:C132195 {source="DOID:0080694", source="MONDO:equivalentTo"} xref: OMIMPS:251300 {source="MONDO:cjm", source="DOID:0080694", source="MONDO:equivalentTo"} xref: Orphanet:2065 {source="GARD:0000065", source="DOID:0060364", source="DOID:0080694", source="MONDO:equivalentTo", source="OMIM:251300"} xref: SCTID:721297008 {source="DOID:0080694", source="MONDO:equivalentTo"} xref: UMLS:C0795949 {source="GARD:0000065", source="DOID:0060364", source="NCIT:C132195", source="Orphanet:2065/e", source="DOID:0080694", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:251300", source="Orphanet:2065"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0002254 {source="DOID:0080694", source="MONDO:Redundant", source="NCIT:C132195"} ! syndromic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: exactMatch DOID:0080694 property_value: exactMatch http://identifiers.org/mesh/C537548 property_value: exactMatch http://identifiers.org/snomedct/721297008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795949 property_value: exactMatch https://omim.org/phenotypicSeries/PS251300 property_value: exactMatch NCIT:C132195 property_value: exactMatch Orphanet:2065 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:2065"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0009633 name: microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma synonym: "microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma" EXACT [MONDO:Lexical, OMIM:251750] synonym: "MSPKA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251750] xref: OMIM:251750 {source="MONDO:equivalentTo"} xref: UMLS:C3538951 {source="MONDO:equivalentTo", source="OMIM:251750"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: MONDO:0100236 {source="https://clinicalgenome.org/affiliation/40077/"} ! LTBP2-related ocular dysgenesis property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3538951 property_value: exactMatch https://omim.org/entry/251750 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5787 xsd:anyURI [Term] id: MONDO:0009635 name: microvillus inclusion disease def: "Microvillus inclusion disease (MVID) is a very rare, severe, malabsorbative syndrome characterized clinically by protracted or intractable neonatal secretory diarrhea and histologically by inclusion bodies on the intestinal epithelium." [Orphanet:2290] subset: ordo_disease {source="Orphanet:2290"} synonym: "congenital familial protracted diarrhea" RELATED [GARD:0007039] synonym: "congenital familial protracted diarrhea with enterocyte Brush-border abnormalities" RELATED [OMIM:251850] synonym: "congenital familial protracted diarrhea with enterocyte brush-border abnormalities" EXACT [DOID:0060775] synonym: "congenital familial protracted diarrhoea" RELATED OMO:0003005 [] synonym: "congenital familial protracted diarrhoea with enterocyte Brush-border abnormalities" RELATED OMO:0003005 [] synonym: "congenital familial protracted diarrhoea with enterocyte brush-border abnormalities" EXACT OMO:0003005 [] synonym: "congenital microvillous atrophy" EXACT [Orphanet:2290] synonym: "congenital microvillus atrophy" EXACT [DOID:0060775, Orphanet:2290] synonym: "Davidson disease" EXACT [DOID:0060775, OMIM:251850] synonym: "Davidson's disease" RELATED [GARD:0007039] synonym: "DIAR2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251850] synonym: "diarrhea 2 with microvillus atrophy" EXACT [DOID:0060775] synonym: "diarrhea 2, with microvillus atrophy" RELATED [MONDO:Lexical, OMIM:251850] synonym: "diarrhoea 2 with microvillus atrophy" EXACT OMO:0003005 [] synonym: "diarrhoea 2, with microvillus atrophy" RELATED OMO:0003005 [] synonym: "familial enteropathy, microvillus" RELATED [GARD:0007039] synonym: "intractable diarrhea of infancy" RELATED [DOID:0060775, OMIM:251850] synonym: "intractable diarrhoea of infancy" RELATED OMO:0003005 [] synonym: "microvillous inclusion disease" EXACT [Orphanet:2290] synonym: "microvillus atrophy, congenital" RELATED [OMIM:251850] synonym: "microvillus inclusion disease" EXACT [OMIM:251850] synonym: "MVD" EXACT ABBREVIATION [DOID:0060775] synonym: "MVID" EXACT ABBREVIATION [Orphanet:2290] synonym: "MYO5B secretory diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "MYO5B secretory diarrhoea" EXACT OMO:0003005 [] synonym: "secretory diarrhea caused by mutation in MYO5B" EXACT [MONDO:design_pattern] synonym: "secretory diarrhoea caused by mutation in MYO5B" EXACT OMO:0003005 [] xref: DOID:0060775 {source="MONDO:equivalentTo"} xref: ICD9:579.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10068494 {source="Orphanet:2290", source="Orphanet:2290/e"} xref: OMIM:251850 {source="MONDO:equivalentTo", source="DOID:0060775", source="Orphanet:2290", source="Orphanet:2290/e"} xref: Orphanet:2290 {source="MONDO:equivalentTo", source="DOID:0060775", source="OMIM:251850"} xref: SCTID:235729009 {source="MONDO:equivalentTo"} xref: UMLS:C0341306 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2290", source="OMIM:251850", source="Orphanet:2290/e"} is_a: MONDO:0015182 {source="Orphanet:2290"} ! congenital enteropathy involving intestinal mucosa development is_a: MONDO:0019126 {source="Orphanet:2290"} ! intractable diarrhea of infancy is_a: MONDO:0045032 ! congenital secretory diarrhea property_value: closeMatch http://identifiers.org/meddra/10068494 property_value: exactMatch DOID:0060775 property_value: exactMatch http://identifiers.org/snomedct/235729009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341306 property_value: exactMatch https://omim.org/entry/251850 property_value: exactMatch Orphanet:2290 [Term] id: MONDO:0009636 name: mitochondrial DNA depletion syndrome 3 (hepatocerebral type) def: "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the DGUOK gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:279934"} synonym: "DGUOK mitochondrial DNA depletion syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "mitochondrial DNA depletion syndrome 3" EXACT [] synonym: "mitochondrial DNA depletion syndrome 3 (hepatocerebral type)" EXACT [MONDO:Lexical, OMIM:251880] synonym: "mitochondrial DNA depletion syndrome caused by mutation in DGUOK" EXACT [MONDO:design_pattern] synonym: "mitochondrial DNA depletion syndrome type 3" EXACT [DOID:0080121, MONDORULE:1] synonym: "mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency" RELATED [Orphanet:279934] synonym: "MTDPS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251880] xref: DOID:0080121 {source="MONDO:equivalentTo"} xref: OMIM:251880 {source="DOID:0080121", source="MONDO:equivalentTo", source="Orphanet:279934", source="Orphanet:279934/e"} xref: Orphanet:279934 {source="MONDO:equivalentTo", source="OMIM:251880"} xref: UMLS:C3151513 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:251880"} xref: UMLS:C4310935 {source="MONDO:equivalentTo"} is_a: MONDO:0019236 {source="Orphanet:279934"} ! inborn disorder of purine metabolism is_a: MONDO:0100512 {source="Orphanet:279934", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial DNA depletion syndrome, hepatocerebral form property_value: exactMatch DOID:0080121 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151513 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310935 property_value: exactMatch https://omim.org/entry/251880 property_value: exactMatch Orphanet:279934 [Term] id: MONDO:0009637 name: inborn mitochondrial myopathy def: "Myopathy caused by mitochondrial abnormalities." [NCIT:C101328] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:206966"} synonym: "mitochondrial cytopathy" EXACT [DOID:699] synonym: "mitochondrial myopathy" EXACT [NCIT:C101328, OMIM:251900] xref: DOID:699 {source="MONDO:equivalentTo"} xref: MedDRA:10027710 {source="Orphanet:206966", source="Orphanet:206966/e"} xref: MESH:D017240 {source="DOID:699", source="Orphanet:206966", source="MONDO:equivalentTo", source="Orphanet:206966/e"} xref: NCIT:C101328 {source="DOID:699", source="MONDO:equivalentTo"} xref: Orphanet:206966 {source="MONDO:equivalentTo"} xref: UMLS:C0162670 {source="DOID:699", source="Orphanet:206966", source="OMIM:251900", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:206966/e", source="NCIT:C101328"} is_a: MONDO:0002921 {source="NCIT:C101328"} ! congenital structural myopathy is_a: MONDO:0004069 {source="MESH:D017240"} ! inborn mitochondrial metabolism disorder intersection_of: EFO:0004145 ! myopathy intersection_of: MONDO:0004069 ! inborn mitochondrial metabolism disorder property_value: closeMatch http://identifiers.org/meddra/10027710 property_value: exactMatch DOID:699 property_value: exactMatch http://identifiers.org/mesh/D017240 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162670 property_value: exactMatch NCIT:C101328 property_value: exactMatch Orphanet:206966 property_value: excluded_subClassOf MONDO:0016117 {source="Orphanet:206966"} [Term] id: MONDO:0009641 name: obsolete mitochondrial complex II deficiency comment: Created new class that is child of OMIMPS. property_value: IAO:0000231 IAO:0000229 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2758 xsd:anyURI is_obsolete: true replaced_by: MONDO:0100294 [Term] id: MONDO:0009642 name: orofaciodigital syndrome type II def: "Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." [Orphanet:2751] subset: ordo_malformation_syndrome {source="Orphanet:2751"} synonym: "MOHR syndrome" EXACT [OMIM:252100] synonym: "Mohr syndrome" EXACT [Orphanet:2751] synonym: "OFD syndrome 2" RELATED [GARD:0003701] synonym: "OFD2" EXACT ABBREVIATION [Orphanet:2751] synonym: "Ofds 2" RELATED [OMIM:252100] synonym: "oral facial digital syndrome 2" RELATED [GARD:0003701] synonym: "oral facial digital syndrome type 2" RELATED [GARD:0003701] synonym: "oral-facial-digital syndrome type 2" EXACT [Orphanet:2751] synonym: "oral-Facial-digital syndrome, type 2" RELATED [OMIM:252100] synonym: "orofaciodigital syndrome 2" RELATED [OMIM:252100] synonym: "orofaciodigital syndrome II" RELATED [GARD:0003701] synonym: "orofaciodigital syndrome type 2" RELATED [Orphanet:2751] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:252100 {source="Orphanet:2751", source="MONDO:equivalentTo", source="Orphanet:2751/e"} xref: Orphanet:2751 {source="MONDO:equivalentTo", source="OMIM:252100"} xref: SCTID:1779005 {source="MONDO:equivalentTo"} is_a: MONDO:0015375 {source="Orphanet:2751"} ! orofaciodigital syndrome is_a: MONDO:0019691 {source="PMID:31633310"} ! short rib dysplasia property_value: exactMatch http://identifiers.org/snomedct/1779005 property_value: exactMatch https://omim.org/entry/252100 property_value: exactMatch Orphanet:2751 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:2751"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0009643 name: sulfite oxidase deficiency due to molybdenum cofactor deficiency type A subset: ordo_etiological_subtype {source="Orphanet:308386"} synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A" EXACT [DOID:0111164, Orphanet:308386] synonym: "MOCOD type A" EXACT [DOID:0111164, Orphanet:308386] synonym: "MOCODA" EXACT ABBREVIATION [DOID:0111164, MONDO:Lexical, OMIM:252150] synonym: "molybdenum cofactor deficiency A" EXACT [OMIM:252150, OMIM:genemap2] synonym: "molybdenum cofactor deficiency complementation group A" EXACT [DOID:0111164] synonym: "molybdenum cofactor deficiency type A" RELATED [DOID:0111164] synonym: "molybdenum cofactor deficiency, complementation group A" RELATED [MONDO:Lexical, OMIM:252150] synonym: "molybdenum cofactor deficiency, complementation group type a" EXACT [MONDORULE:1, OMIM:252150] synonym: "sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of" RELATED [OMIM:252150] xref: DOID:0111164 {source="MONDO:equivalentTo"} xref: MESH:C565372 {source="MONDO:equivalentTo"} xref: OMIM:252150 {source="MONDO:equivalentTo", source="DOID:0111164", source="Orphanet:308386", source="Orphanet:308386/e"} xref: Orphanet:308386 {source="OMIM:252150", source="MONDO:equivalentTo", source="DOID:0111164"} xref: PMID:9731530 {source="DOID:0111164"} xref: UMLS:C1854988 {source="OMIM:252150", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:0111164", source="Orphanet:308386"} is_a: MONDO:0020480 {source="DOID:0111164", source="OMIM:252150", source="Orphanet:308386"} ! sulfite oxidase deficiency due to molybdenum cofactor deficiency property_value: exactMatch DOID:0111164 property_value: exactMatch http://identifiers.org/mesh/C565372 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854988 property_value: exactMatch https://omim.org/entry/252150 property_value: exactMatch Orphanet:308386 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009644 name: sulfite oxidase deficiency due to molybdenum cofactor deficiency type B subset: ordo_etiological_subtype {source="Orphanet:308393"} synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B" EXACT [DOID:0111163, Orphanet:308393] synonym: "MOCOD type B" EXACT [DOID:0111163, Orphanet:308393] synonym: "MOCODB" EXACT ABBREVIATION [DOID:0111163, MONDO:Lexical, OMIM:252160] synonym: "molybdenum cofactor deficiency B" EXACT [OMIM:252160, OMIM:genemap2] synonym: "molybdenum cofactor deficiency complementation group B" EXACT [DOID:0111163] synonym: "molybdenum cofactor deficiency type B" RELATED [DOID:0111163] synonym: "molybdenum cofactor deficiency, complementation group B" RELATED [MONDO:Lexical, OMIM:252160] synonym: "molybdenum cofactor deficiency, complementation group type B" EXACT [MONDORULE:1, OMIM:252160] synonym: "sulfite oxidase deficiency due to molybdenum cofactor deficiency type B" EXACT [] xref: DOID:0111163 {source="MONDO:equivalentTo"} xref: MESH:C565373 {source="MONDO:equivalentTo"} xref: OMIM:252160 {source="Orphanet:308393", source="MONDO:equivalentTo", source="DOID:0111163", source="Orphanet:308393/e"} xref: Orphanet:308393 {source="OMIM:252160", source="MONDO:equivalentTo", source="DOID:0111163"} xref: PMID:10053004 {source="DOID:0111163"} xref: UMLS:C1854989 {source="OMIM:252160", source="Orphanet:308393", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:0111163"} is_a: MONDO:0020480 {source="DOID:0111163", source="OMIM:252160", source="Orphanet:308393"} ! sulfite oxidase deficiency due to molybdenum cofactor deficiency property_value: exactMatch DOID:0111163 property_value: exactMatch http://identifiers.org/mesh/C565373 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854989 property_value: exactMatch https://omim.org/entry/252160 property_value: exactMatch Orphanet:308393 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009650 name: mucolipidosis type II def: "Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly." [Orphanet:576] subset: ordo_disease {source="Orphanet:576"} synonym: "GNPTA" RELATED ABBREVIATION [GARD:0006749] synonym: "I cell disease" RELATED [GARD:0006749] synonym: "I-cell disease" EXACT [DOID:0080070, OMIM:252500, Orphanet:576] synonym: "inclusion cell disease" RELATED [GARD:0006749] synonym: "Leroy disease" RELATED [GARD:0006749] synonym: "ML 2" RELATED [GARD:0006749] synonym: "ML 2 Alpha/Beta" RELATED [OMIM:252500] synonym: "ML disorder type 2" RELATED [GARD:0006749] synonym: "mucolipidosis 2" RELATED [OMIM:252500] synonym: "mucolipidosis 2 alpha/beta" RELATED [OMIM:252500] synonym: "mucolipidosis II" EXACT [DOID:0080070] synonym: "mucolipidosis II alpha/beta" RELATED [OMIM:252500] synonym: "mucolipidosis type II" EXACT [NCIT:C61270] synonym: "mucolipidosis type II alpha/beta" EXACT [Orphanet:576] synonym: "N-acetylglucosamine 1-phosphotransferase deficiency" EXACT [Orphanet:576] synonym: "N-acetylglucosamine 1phosphotransferase deficiency" RELATED [GARD:0006749] xref: DOID:0080070 {source="MONDO:equivalentTo"} xref: MESH:C538602 {source="Orphanet:576", source="MONDO:equivalentTo", source="Orphanet:576/e"} xref: NCIT:C61270 {source="MONDO:equivalentTo"} xref: OMIM:252500 {source="Orphanet:576", source="MONDO:equivalentTo", source="Orphanet:576/e", source="DOID:0080070"} xref: Orphanet:576 {source="MONDO:equivalentTo", source="OMIM:252500"} xref: SCTID:70199000 {source="MONDO:equivalentTo"} xref: UMLS:C0020725 {source="Orphanet:576", source="MONDO:equivalentTo", source="NCIT:C61270", source="Orphanet:576/e", source="OMIM:252500"} xref: UMLS:C2673377 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:252500"} is_a: MONDO:0100122 {source="PMID:20301728", source="PMID:32651481"} ! GNPTAB-mucolipidosis is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement property_value: exactMatch DOID:0080070 property_value: exactMatch http://identifiers.org/mesh/C538602 property_value: exactMatch http://identifiers.org/snomedct/70199000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020725 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673377 property_value: exactMatch https://omim.org/entry/252500 property_value: exactMatch NCIT:C61270 property_value: exactMatch Orphanet:576 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5565 xsd:anyURI [Term] id: MONDO:0009652 name: GNPTG-mucolipidosis def: "A very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis II and mucolipidosis III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency." [https://orcid.org/0000-0001-5208-3432, Orphanet:423470] subset: ordo_clinical_subtype {source="Orphanet:423470"} synonym: "GNPTG-mucolipidosis" EXACT [https://orcid.org/0000-0002-5655-9589] synonym: "ML 3 gamma" EXACT [OMIM:252605, Orphanet:423470] synonym: "ML 3C" RELATED [OMIM:252605] synonym: "ML III gamma" EXACT [Orphanet:423470] synonym: "mucolipidosis 3 gamma" RELATED [OMIM:252605] synonym: "mucolipidosis 3C" RELATED [OMIM:252605] synonym: "mucolipidosis III gamma" RELATED [OMIM:252605] synonym: "mucolipidosis III, complementation group C" RELATED [OMIM:252605] synonym: "mucolipidosis III, Iranian variant form" RELATED [OMIM:252605] synonym: "mucolipidosis III, variant form" RELATED [OMIM:252605] synonym: "mucolipidosis type 3 gamma" EXACT [Orphanet:423470] synonym: "mucolipidosis type III gamma" EXACT [Orphanet:423470] xref: DOID:0080678 {source="MONDO:equivalentTo"} xref: MESH:C565367 {source="MONDO:equivalentTo"} xref: NCIT:C129978 {source="MONDO:equivalentTo"} xref: OMIM:252605 {source="Orphanet:423470/e", source="MONDO:equivalentTo", source="Orphanet:423470"} xref: Orphanet:423470 {source="OMIM:252605", source="MONDO:equivalentTo"} xref: UMLS:C1854896 {source="OMIM:252605", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C129978", source="Orphanet:423470"} is_a: MONDO:0031422 {source="OMIM:252605"} ! familial mucolipidosis is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement property_value: exactMatch DOID:0080678 property_value: exactMatch http://identifiers.org/mesh/C565367 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854896 property_value: exactMatch https://omim.org/entry/252605 property_value: exactMatch NCIT:C129978 property_value: exactMatch Orphanet:423470 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6021 xsd:anyURI [Term] id: MONDO:0009653 name: mucolipidosis type IV def: "A lysosomal storage disease characterized clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus." [Orphanet:578] subset: gard_rare subset: ordo_disease {source="Orphanet:578"} synonym: "Berman syndrome" RELATED [GARD:0000094, GTR:AN1125032] synonym: "ganglioside neuraminidase deficiency" RELATED [GARD:0000094, GTR:AN1125033] synonym: "ganglioside sialidase deficiency" RELATED [GARD:0000094, GTR:AN1124590] synonym: "ML 4" RELATED [GARD:0000094, OMIM:252650] synonym: "ML IV" EXACT ABBREVIATION [Orphanet:578] synonym: "ML4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:252650] synonym: "MLIV" EXACT ABBREVIATION [GTR:AN1148743] synonym: "mucolipidosis 4" RELATED [OMIM:252650] synonym: "mucolipidosis IV" RELATED [MONDO:Lexical, OMIM:252650] synonym: "mucolipidosis type 4" EXACT [MONDORULE:1, OMIM:252650] synonym: "mucolipidosis type IV" EXACT [GARD:0000094] synonym: "sialolipidosis" RELATED [OMIM:252650] xref: DOID:0080490 {source="MONDO:equivalentTo"} xref: GTR:AN1124590 xref: GTR:AN1125032 xref: GTR:AN1125033 xref: GTR:AN1148743 xref: NCIT:C84896 {source="MONDO:equivalentTo"} xref: OMIM:252650 {source="Orphanet:578", source="MONDO:equivalentTo", source="Orphanet:578/e", source="GARD:0000094"} xref: Orphanet:578 {source="MONDO:equivalentTo", source="OMIM:252650", source="GARD:0000094"} xref: SCTID:111384001 {source="MONDO:equivalentTo"} xref: UMLS:C0238286 {source="Orphanet:578", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:252650", source="Orphanet:578/e", source="GARD:0000094", source="NCIT:C84896"} xref: UMLS:CN716584 {source="MONDO:equivalentTo"} is_a: EFO:0003966 ! eye disease is_a: MONDO:0031422 {source="OMIM:252650"} ! familial mucolipidosis relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch DOID:0080490 property_value: exactMatch http://identifiers.org/snomedct/111384001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238286 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN716584 property_value: exactMatch https://omim.org/entry/252650 property_value: exactMatch NCIT:C84896 property_value: exactMatch Orphanet:578 [Term] id: MONDO:0009655 name: mucopolysaccharidosis type 3A def: "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures." [NCIT:C84897] subset: gard_rare subset: ordo_etiological_subtype {source="Orphanet:79269"} synonym: "heparan sulfamidase deficiency" EXACT [Orphanet:79269] synonym: "heparan sulfate sulfatase deficiency" RELATED [OMIM:252900] synonym: "heparan sulphate sulfatase deficiency" RELATED OMO:0003005 [] synonym: "heparane sulfamidase deficiency" RELATED [GARD:0002649] synonym: "MPS 3A" RELATED [OMIM:252900] synonym: "MPS III A" EXACT [NCIT:C84897] synonym: "MPS IIIA" RELATED [GARD:0007071] synonym: "MPS3A" EXACT ABBREVIATION [MONDO:Lexical, OMIM:252900, Orphanet:79269] synonym: "MPSIIIA" EXACT ABBREVIATION [Orphanet:79269] synonym: "mucopoly-saccharidosis type 3A" RELATED [GARD:0007071] synonym: "mucopolysaccharidosis type 3A" EXACT [Orphanet:79269] synonym: "mucopolysaccharidosis type IIIA" EXACT [Orphanet:79269] synonym: "mucopolysaccharidosis type IIIA (Sanfilippo A)" EXACT [OMIM:252900, OMIM:genemap2] synonym: "mucopolysaccharidosis, type 3A" RELATED [OMIM:252900] synonym: "mucopolysaccharidosis, type IIIA" RELATED [MONDO:Lexical, OMIM:252900] synonym: "Sanfilippo A" EXACT [NCIT:C84897] synonym: "Sanfilippo syndrome a" EXACT [OMIM:252900] synonym: "Sanfilippo syndrome type A" EXACT [OMIM:252900] synonym: "sulfamidase deficiency" RELATED [OMIM:252900] xref: DOID:0111395 {source="MONDO:equivalentTo"} xref: NCIT:C84897 {source="MONDO:equivalentTo"} xref: OMIM:252900 {source="Orphanet:79269/e", source="MONDO:equivalentTo", source="Orphanet:79269"} xref: Orphanet:79269 {source="OMIM:252900", source="MONDO:equivalentTo"} xref: SCTID:41572006 {source="MONDO:equivalentTo"} xref: UMLS:C0086647 {source="NCIT:C84897", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:79269"} is_a: MONDO:0018937 {source="NCIT:C84897", source="Orphanet:79269"} ! mucopolysaccharidosis type 3 is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement property_value: exactMatch DOID:0111395 property_value: exactMatch http://identifiers.org/snomedct/41572006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0086647 property_value: exactMatch https://omim.org/entry/252900 property_value: exactMatch NCIT:C84897 property_value: exactMatch Orphanet:79269 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5075 xsd:anyURI [Term] id: MONDO:0009656 name: mucopolysaccharidosis type 3B def: "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays." [NCIT:C84898] subset: ordo_etiological_subtype {source="Orphanet:79270"} synonym: "MPS 3B" RELATED [OMIM:252920] synonym: "MPS III B" EXACT [NCIT:C84898] synonym: "MPS IIIB" RELATED [GARD:0007072] synonym: "MPS3B" EXACT ABBREVIATION [MONDO:Lexical, OMIM:252920, Orphanet:79270] synonym: "MPSIIIB" EXACT ABBREVIATION [Orphanet:79270] synonym: "Mucopoly-saccharidosis type 3B" RELATED [GARD:0007072] synonym: "mucopolysaccharidosis type 3B" EXACT [Orphanet:79270] synonym: "mucopolysaccharidosis type IIIB" EXACT [Orphanet:79270] synonym: "mucopolysaccharidosis type IIIB (Sanfilippo B)" EXACT [OMIM:252920, OMIM:genemap2] synonym: "mucopolysaccharidosis, type 3B" RELATED [OMIM:252920] synonym: "mucopolysaccharidosis, type IIIB" RELATED [MONDO:Lexical, OMIM:252920] synonym: "N-Acetyl-Alpha-D-glucosaminidase deficiency" RELATED [OMIM:252920] synonym: "N-acetyl-alpha-glucosaminidase deficiency" EXACT [Orphanet:79270] synonym: "NAGLU deficiency" RELATED [OMIM:252920] synonym: "Sanfilippo B" EXACT [NCIT:C84898] synonym: "Sanfilippo syndrome B" EXACT [OMIM:252920] synonym: "Sanfilippo syndrome type B" EXACT [OMIM:252920] xref: DOID:0111394 {source="MONDO:equivalentTo"} xref: NCIT:C84898 {source="MONDO:equivalentTo"} xref: OMIM:252920 {source="Orphanet:79270", source="MONDO:equivalentTo", source="Orphanet:79270/e"} xref: Orphanet:79270 {source="MONDO:equivalentTo", source="OMIM:252920"} xref: SCTID:59990008 {source="MONDO:equivalentTo"} xref: UMLS:C0086648 {source="NCIT:C84898", source="Orphanet:79270", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:252920"} is_a: MONDO:0018937 {source="NCIT:C84898", source="Orphanet:79270"} ! mucopolysaccharidosis type 3 is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement property_value: exactMatch DOID:0111394 property_value: exactMatch http://identifiers.org/snomedct/59990008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0086648 property_value: exactMatch https://omim.org/entry/252920 property_value: exactMatch NCIT:C84898 property_value: exactMatch Orphanet:79270 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5075 xsd:anyURI [Term] id: MONDO:0009657 name: mucopolysaccharidosis type 3C def: "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays." [NCIT:C84899] subset: ordo_etiological_subtype {source="Orphanet:79271"} synonym: "Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency" RELATED [GARD:0007073] synonym: "acetyl-CoA:alpha-glucosaminide N-acetyltransferase deficiency" RELATED [OMIM:252930] synonym: "heparan-alpha-glucosaminide N-acetyltransferase deficiency" EXACT [Orphanet:79271] synonym: "HGSNAT deficiency" EXACT [Orphanet:79271] synonym: "MPS 3C" RELATED [OMIM:252930] synonym: "MPS III C" EXACT [NCIT:C84899] synonym: "MPS IIIC" RELATED [GARD:0007073] synonym: "MPS3C" EXACT ABBREVIATION [MONDO:Lexical, OMIM:252930, Orphanet:79271] synonym: "MPSIIIC" EXACT ABBREVIATION [Orphanet:79271] synonym: "Mucopoly-saccharidosis type 3C" RELATED [GARD:0007073] synonym: "mucopolysaccharidosis type 3C" EXACT [OMIM:252930, Orphanet:79271] synonym: "mucopolysaccharidosis type IIIC" EXACT [Orphanet:79271] synonym: "mucopolysaccharidosis type IIIC (Sanfilippo C)" EXACT [OMIM:252930, OMIM:genemap2] synonym: "mucopolysaccharidosis, type 3C" RELATED [OMIM:252930] synonym: "mucopolysaccharidosis, type IIIC" RELATED [MONDO:Lexical, OMIM:252930] synonym: "Sanfilippo C" EXACT [NCIT:C84899] synonym: "Sanfilippo syndrome C" RELATED [OMIM:252930] synonym: "Sanfilippo syndrome type C" EXACT [OMIM:252930] xref: DOID:0111393 {source="MONDO:equivalentTo"} xref: NCIT:C84899 {source="MONDO:equivalentTo"} xref: OMIM:252930 {source="MONDO:equivalentTo", source="Orphanet:79271", source="Orphanet:79271/e"} xref: Orphanet:79271 {source="MONDO:equivalentTo", source="OMIM:252930"} xref: SCTID:75238000 {source="MONDO:equivalentTo"} xref: UMLS:C0086649 {source="NCIT:C84899", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:79271", source="OMIM:252930"} is_a: MONDO:0018937 {source="NCIT:C84899", source="Orphanet:79271"} ! mucopolysaccharidosis type 3 is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement property_value: exactMatch DOID:0111393 property_value: exactMatch http://identifiers.org/snomedct/75238000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0086649 property_value: exactMatch https://omim.org/entry/252930 property_value: exactMatch NCIT:C84899 property_value: exactMatch Orphanet:79271 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5075 xsd:anyURI [Term] id: MONDO:0009658 name: mucopolysaccharidosis type 3D def: "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays." [NCIT:C84900] subset: ordo_etiological_subtype {source="Orphanet:79272"} synonym: "glucosamine N-acetyl-6-sulfatase deficiency" EXACT [Orphanet:79272] synonym: "GNS deficiency" EXACT [Orphanet:79272] synonym: "MPS 3D" RELATED [OMIM:252940] synonym: "MPS III D" EXACT [NCIT:C84900] synonym: "MPS IIID" RELATED [GARD:0007074] synonym: "MPS3D" EXACT ABBREVIATION [MONDO:Lexical, OMIM:252940, Orphanet:79272] synonym: "MPSIIID" EXACT ABBREVIATION [Orphanet:79272] synonym: "Mucopoly-saccharidosis type 3D" RELATED [GARD:0007074] synonym: "mucopolysaccharidosis type 3D" EXACT [Orphanet:79272] synonym: "mucopolysaccharidosis type IIID" EXACT [Orphanet:79272] synonym: "mucopolysaccharidosis, type 3D" RELATED [OMIM:252940] synonym: "mucopolysaccharidosis, type IIID" RELATED [MONDO:Lexical, OMIM:252940] synonym: "N-acetylglucosamine-6-sulfatase deficiency" RELATED [OMIM:252940] synonym: "N-acetylglucosamine-6-sulfate sulfatase deficiency" RELATED [GARD:0007074] synonym: "Sanfilippo D" EXACT [NCIT:C84900] synonym: "Sanfilippo syndrome D" EXACT [OMIM:252940] synonym: "Sanfilippo syndrome type D" EXACT [OMIM:252940] xref: DOID:0111402 {source="MONDO:equivalentTo"} xref: NCIT:C84900 {source="MONDO:equivalentTo"} xref: OMIM:252940 {source="MONDO:equivalentTo", source="Orphanet:79272", source="Orphanet:79272/e"} xref: Orphanet:79272 {source="MONDO:equivalentTo", source="OMIM:252940"} xref: SCTID:15892005 {source="MONDO:equivalentTo"} xref: UMLS:C0086650 {source="NCIT:C84900", source="MONDO:equivalentTo", source="Orphanet:79272", source="MONDO:ncbi_mim2gene_medline", source="OMIM:252940"} is_a: MONDO:0018937 {source="NCIT:C84900", source="Orphanet:79272"} ! mucopolysaccharidosis type 3 is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement property_value: exactMatch DOID:0111402 property_value: exactMatch http://identifiers.org/snomedct/15892005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0086650 property_value: exactMatch https://omim.org/entry/252940 property_value: exactMatch NCIT:C84900 property_value: exactMatch Orphanet:79272 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5075 xsd:anyURI [Term] id: MONDO:0009659 name: mucopolysaccharidosis type 4A def: "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits." [NCIT:C84901] subset: ordo_clinical_subtype {source="Orphanet:309297"} synonym: "galactosamine-6-sulfatase deficiency" EXACT [Orphanet:309297] synonym: "GALNS deficiency" EXACT [OMIM:253000, Orphanet:309297] synonym: "Morquio A disease" BROAD [OMIM:253000] synonym: "Morquio disease type A" EXACT [Orphanet:309297] synonym: "Morquio syndrome A" EXACT [OMIM:253000] synonym: "MPS 4A" RELATED [OMIM:253000] synonym: "MPS IV A" EXACT [NCIT:C84901] synonym: "MPS IVA" RELATED [GARD:0003785] synonym: "MPS4A" EXACT ABBREVIATION [MONDO:Lexical, OMIM:253000, Orphanet:309297] synonym: "MPSIVA" EXACT ABBREVIATION [Orphanet:309297] synonym: "mucopolysaccharidosis IVA" EXACT [OMIM:253000, OMIM:genemap2] synonym: "mucopolysaccharidosis type 4A" EXACT [] synonym: "mucopolysaccharidosis type IVA" EXACT [Orphanet:309297] synonym: "mucopolysaccharidosis, type 4A" RELATED [OMIM:253000] synonym: "mucopolysaccharidosis, type IVA" RELATED [MONDO:Lexical, OMIM:253000] synonym: "N-acetylgalactosamine-6-sulfate sulfatase deficiency" EXACT [Orphanet:309297] xref: DOID:0111391 {source="MONDO:equivalentTo"} xref: NCIT:C84901 {source="MONDO:equivalentTo"} xref: OMIM:253000 {source="MONDO:equivalentTo", source="Orphanet:309297", source="Orphanet:309297/e"} xref: Orphanet:309297 {source="MONDO:equivalentTo", source="OMIM:253000"} xref: SCTID:7259005 {source="MONDO:equivalentTo"} is_a: MONDO:0018938 {source="NCIT:C84901", source="Orphanet:309297"} ! mucopolysaccharidosis type 4 is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement property_value: exactMatch DOID:0111391 property_value: exactMatch http://identifiers.org/snomedct/7259005 property_value: exactMatch https://omim.org/entry/253000 property_value: exactMatch NCIT:C84901 property_value: exactMatch Orphanet:309297 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0009660 name: mucopolysaccharidosis type 4B def: "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature." [NCIT:C84902] subset: ordo_clinical_subtype {source="Orphanet:309310"} synonym: "Beta-D-galactosidase deficiency" EXACT [Orphanet:309310] synonym: "Morquio disease type B" EXACT [Orphanet:309310] synonym: "Morquio syndrome B" EXACT [OMIM:253010] synonym: "MPS 4B" EXACT [OMIM:253010] synonym: "MPS IV B" EXACT [NCIT:C84902] synonym: "MPS IVB" RELATED [GARD:0003786] synonym: "MPS4B" EXACT ABBREVIATION [Orphanet:309310] synonym: "MPSIVB" EXACT ABBREVIATION [Orphanet:309310] synonym: "mucopolysaccharidosis type IVB" EXACT [Orphanet:309310] synonym: "mucopolysaccharidosis type IVB (Morquio)" EXACT [OMIM:253010, OMIM:genemap2] synonym: "mucopolysaccharidosis, type 4B" RELATED [OMIM:253010] synonym: "mucopolysaccharidosis, type IVB" RELATED [OMIM:253010] xref: DOID:0111392 {source="MONDO:equivalentTo"} xref: NCIT:C84902 {source="MONDO:equivalentTo"} xref: OMIM:253010 {source="MONDO:equivalentTo", source="Orphanet:309310", source="Orphanet:309310/e"} xref: Orphanet:309310 {source="MONDO:equivalentTo", source="OMIM:253010"} xref: SCTID:238044004 {source="MONDO:equivalentTo"} xref: UMLS:C0086652 {source="NCIT:C84902", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:253010", source="Orphanet:309310", source="Orphanet:309310/e"} is_a: MONDO:0018938 {source="NCIT:C84902", source="Orphanet:309310"} ! mucopolysaccharidosis type 4 is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement property_value: exactMatch DOID:0111392 property_value: exactMatch http://identifiers.org/snomedct/238044004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0086652 property_value: exactMatch https://omim.org/entry/253010 property_value: exactMatch NCIT:C84902 property_value: exactMatch Orphanet:309310 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0009661 name: mucopolysaccharidosis type 6 def: "Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." [Orphanet:583] subset: ordo_disease {source="Orphanet:583"} synonym: "ARSB deficiency" EXACT [Orphanet:583] synonym: "Arsb deficiency" RELATED [OMIM:253200] synonym: "arylsulfatase B deficiency" EXACT [DOID:12800, Orphanet:583] synonym: "ASB deficiency" EXACT [Orphanet:583] synonym: "deficiency of N-acetylgalactosamine-4-sulfatase" EXACT [DOID:12800] synonym: "Maroteaux - Lamy syndrome" EXACT [DOID:12800] synonym: "Maroteaux Lamy syndrome" RELATED [GARD:0007095] synonym: "Maroteaux-Lamy disease" EXACT [Orphanet:583] synonym: "Maroteaux-Lamy syndrome" EXACT [DOID:12800] synonym: "MPS 6" RELATED [OMIM:253200] synonym: "MPS VI" RELATED [GARD:0007095] synonym: "MPS VI - Maroteaux-Lamy syndrome" EXACT [DOID:12800] synonym: "MPS6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:253200, Orphanet:583] synonym: "MPSVI" EXACT ABBREVIATION [Orphanet:583] synonym: "Mucopoly-saccharidosis type VI" RELATED [GARD:0007095] synonym: "mucopolysaccharidosis type VI" EXACT [DOID:12800, MONDO:Lexical, MONDORULE:3, OMIM:253200, Orphanet:583] synonym: "mucopolysaccharidosis type VI (Maroteaux-Lamy)" EXACT [OMIM:253200, OMIM:genemap2] synonym: "mucopolysaccharidosis VI" RELATED [DOID:12800] synonym: "N-acetylgalactosamine 4-sulfatase deficiency" EXACT [Orphanet:583] synonym: "N-acetylgalactosamine-4-sulfatase deficiency" RELATED [OMIM:253200] xref: DOID:12800 {source="MONDO:equivalentTo"} xref: MedDRA:10056892 {source="Orphanet:583/e", source="Orphanet:583"} xref: MESH:D009087 {source="DOID:12800", source="Orphanet:583/e", source="MONDO:equivalentTo", source="Orphanet:583"} xref: NCIT:C61264 {source="DOID:12800", source="MONDO:equivalentTo"} xref: OMIM:253200 {source="DOID:12800", source="Orphanet:583/e", source="MONDO:equivalentTo", source="Orphanet:583"} xref: Orphanet:583 {source="MONDO:equivalentTo", source="OMIM:253200"} xref: SCTID:69463008 {source="DOID:12800", source="MONDO:equivalentTo"} xref: UMLS:C0026709 {source="DOID:12800", source="Orphanet:583/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:253200", source="NCIT:C61264", source="Orphanet:583"} is_a: EFO:0003966 ! eye disease is_a: MONDO:0002254 {source="NCIT:C61264"} ! syndromic disease is_a: MONDO:0019249 {source="DC-OMIM:253200", source="DOID:12800", source="MESH:D009087", source="MONDO:Redundant", source="NCIT:C61264", source="OMIM:253200", source="Orphanet:583"} ! mucopolysaccharidosis is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement property_value: closeMatch http://identifiers.org/meddra/10056892 property_value: exactMatch DOID:12800 property_value: exactMatch http://identifiers.org/mesh/D009087 property_value: exactMatch http://identifiers.org/snomedct/69463008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026709 property_value: exactMatch https://omim.org/entry/253200 property_value: exactMatch NCIT:C61264 property_value: exactMatch Orphanet:583 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0009662 name: mucopolysaccharidosis type 7 def: "Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses." [Orphanet:584] subset: ordo_disease {source="Orphanet:584"} synonym: "Beta-glucuronidase deficiency" EXACT [Orphanet:584] synonym: "beta-glucuronidase deficiency" EXACT [DOID:12803] synonym: "deficiency of beta-glucuronidase" EXACT [DOID:12803] synonym: "Gus deficiency" RELATED [] synonym: "Gusb deficiency" RELATED [OMIM:253220] synonym: "gusb deficiency" RELATED [] synonym: "MPS 7" RELATED [OMIM:253220] synonym: "MPS VII" RELATED [GARD:0007096] synonym: "MPS VII - mucopolysaccharidosis VII" RELATED [] synonym: "MPS VII - Sly syndrome" EXACT [DOID:12803] synonym: "MPS7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:253220, Orphanet:584] synonym: "MPSVII" EXACT ABBREVIATION [Orphanet:584] synonym: "mucopolysaccharidosis type 7" EXACT [] synonym: "mucopolysaccharidosis type VII" EXACT [Orphanet:584] synonym: "mucopolysaccharidosis VII" EXACT [DOID:12803] synonym: "mucopolysaccharidosis, mps-VII" EXACT [] synonym: "mucopolysaccharidosis, type 7" RELATED [OMIM:253220] synonym: "mucopolysaccharidosis, type VII" RELATED [MONDO:Lexical, OMIM:253220] synonym: "Sly disease" EXACT [Orphanet:584] synonym: "Sly syndrome" EXACT [OMIM:253220] xref: DOID:12803 {source="MONDO:equivalentTo"} xref: MedDRA:10056893 {source="Orphanet:584/e", source="Orphanet:584"} xref: MESH:D016538 {source="Orphanet:584/e", source="DOID:12803", source="MONDO:equivalentTo", source="Orphanet:584"} xref: NCIT:C84903 {source="DOID:12803", source="MONDO:equivalentTo"} xref: OMIM:253220 {source="Orphanet:584/e", source="DOID:12803", source="MONDO:equivalentTo", source="Orphanet:584"} xref: Orphanet:584 {source="MONDO:equivalentTo", source="OMIM:253220"} xref: SCTID:43916004 {source="DOID:12803", source="MONDO:equivalentTo"} xref: UMLS:C0085132 {source="Orphanet:584/e", source="DOID:12803", source="MONDO:equivalentTo", source="OMIM:253220", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C84903", source="Orphanet:584"} is_a: MONDO:0019249 {source="DC-OMIM:253220", source="DOID:12803", source="MESH:D016538", source="MONDO:Redundant", source="NCIT:C84903", source="OMIM:253220", source="Orphanet:584"} ! mucopolysaccharidosis is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement property_value: closeMatch http://identifiers.org/meddra/10056893 property_value: exactMatch DOID:12803 property_value: exactMatch http://identifiers.org/mesh/D016538 property_value: exactMatch http://identifiers.org/snomedct/43916004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085132 property_value: exactMatch https://omim.org/entry/253220 property_value: exactMatch NCIT:C84903 property_value: exactMatch Orphanet:584 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0009664 name: mulibrey nanism def: "A prenatal onset growth disorder with multiorgan manifestations." [Orphanet:2576] subset: gard_rare {source="GARD:0000095"} subset: ordo_malformation_syndrome {source="Orphanet:2576"} synonym: "MUL" EXACT ABBREVIATION [Orphanet:2576] synonym: "mulibrey dwarfism" EXACT [Orphanet:2576] synonym: "mulibrey nanism" EXACT [OMIM:253250] synonym: "muscle-liver-brain-eye nanism" EXACT [DOID:0050436, OMIM:253250, Orphanet:2576] synonym: "Perheentupa syndrome" EXACT [DOID:0050436, OMIM:253250, Orphanet:2576] synonym: "pericardial constriction and Growth failure" RELATED [OMIM:253250] synonym: "pericardial constriction and growth failure" EXACT [DOID:0050436] synonym: "pericardial constriction-growth failure syndrome" EXACT [Orphanet:2576] xref: DOID:0050436 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D050336 {source="Orphanet:2576", source="DOID:0050436", source="MONDO:equivalentTo", source="Orphanet:2576/e"} xref: NCIT:C84906 {source="DOID:0050436", source="MONDO:equivalentTo"} xref: OMIM:253250 {source="Orphanet:2576", source="DOID:0050436", source="MONDO:equivalentTo", source="Orphanet:2576/e"} xref: Orphanet:2576 {source="OMIM:253250", source="MONDO:equivalentTo"} xref: SCTID:81604003 {source="DOID:0050436", source="MONDO:equivalentTo"} xref: UMLS:C0524582 {source="OMIM:253250", source="Orphanet:2576", source="DOID:0050436", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C84906", source="Orphanet:2576/e"} xref: UMLS:C2931895 {source="Orphanet:2576", source="MONDO:equivalentTo", source="Orphanet:2576/e"} is_a: EFO:1000017 {source="DOID:0050436", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0002254 {source="NCIT:C84906"} ! syndromic disease is_a: MONDO:0021147 {source="Orphanet:2576", source="Orphanet:2576/inferred"} ! disorder of development or morphogenesis is_a: MONDO:0100306 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of defective peroxisome oxidative status property_value: exactMatch DOID:0050436 property_value: exactMatch http://identifiers.org/mesh/D050336 property_value: exactMatch http://identifiers.org/snomedct/81604003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0524582 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931895 property_value: exactMatch https://omim.org/entry/253250 property_value: exactMatch NCIT:C84906 property_value: exactMatch Orphanet:2576 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/95/mulibrey-nanism xsd:anyURI {source="GARD:0000095"} [Term] id: MONDO:0009665 name: biotinidase deficiency def: "Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development." [Orphanet:79241] subset: ordo_disease {source="Orphanet:79241"} synonym: "biotin deficiency" RELATED [GARD:0000894] synonym: "biotinidase deficiency" EXACT [OMIM:253260] synonym: "BTD deficiency" EXACT [DOID:856, OMIM:253260, Orphanet:79241] synonym: "deficiency of biotinidase" EXACT [DOID:856] synonym: "juvenile-onset multiple carboxylase deficiency" EXACT [DOID:856, Orphanet:79241] synonym: "late-onset biotin-responsive multiple carboxylase deficiency" RELATED [GARD:0000894] synonym: "late-onset multiple carboxylase deficiency" EXACT [DOID:856, Orphanet:79241] synonym: "multiple carboxylase deficiency, juvenile-onset" RELATED [OMIM:253260] synonym: "multiple carboxylase deficiency, late-onset" RELATED [OMIM:253260] xref: DOID:856 {source="MONDO:equivalentTo"} xref: ICD10CM:D81.810 {source="DOID:856", source="MONDO:equivalentTo"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10071434 {source="Orphanet:79241", source="Orphanet:79241/e"} xref: MESH:D028921 {source="DOID:856", source="MONDO:equivalentTo", source="Orphanet:79241", source="Orphanet:79241/e"} xref: NCIT:C84598 {source="DOID:856", source="MONDO:equivalentTo"} xref: OMIM:253260 {source="DOID:856", source="MONDO:equivalentTo", source="Orphanet:79241", source="Orphanet:79241/e"} xref: Orphanet:79241 {source="OMIM:253260", source="MONDO:equivalentTo"} xref: SCTID:8808004 {source="DOID:856", source="MONDO:equivalentTo"} xref: UMLS:C0220754 {source="OMIM:253260", source="DOID:856", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:79241", source="Orphanet:79241/e", source="NCIT:C84598"} xref: UMLS:CN043572 {source="MONDO:equivalentTo"} is_a: MONDO:0015454 {source="DOID:856", source="MESH:D028921", source="Orphanet:79241"} ! multiple carboxylase deficiency is_a: MONDO:0015653 ! monogenic epilepsy is_a: MONDO:0017760 {source="Orphanet:79241"} ! disorder of other vitamins and cofactors metabolism and transport is_a: MONDO:0019213 ! cerebral organic aciduria is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy is_a: MONDO:0100033 {source="https://orcid.org/0000-0001-8486-0558"} ! metabolic epilepsy property_value: closeMatch http://identifiers.org/meddra/10071434 property_value: exactMatch DOID:856 property_value: exactMatch http://identifiers.org/mesh/D028921 property_value: exactMatch http://identifiers.org/snomedct/8808004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220754 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN043572 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D81.810 property_value: exactMatch https://omim.org/entry/253260 property_value: exactMatch NCIT:C84598 property_value: exactMatch Orphanet:79241 [Term] id: MONDO:0009666 name: holocarboxylase synthetase deficiency def: "A life-threatening early-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma." [Orphanet:79242] comment: May occur as a secondary consequence of impaired biotinidase activity doi:10.1074/jbc.M806985200 subset: gard_rare {source="GARD:0002721"} subset: ordo_disease {source="Orphanet:79242"} synonym: "biotin-(propionyl-CoA-carboxylase) ligase deficiency" EXACT [DOID:859] synonym: "early-onset multiple carboxylase deficiency" EXACT [Orphanet:79242] synonym: "HLCS deficiency" RELATED [OMIM:253270] synonym: "holocarboxylase synthase deficiency" EXACT MISSPELLING [] synonym: "holocarboxylase synthetase deficiency" EXACT [NCIT:C98842, OMIM:253270] synonym: "multiple carboxylase deficiency" BROAD [NCIT:C98842] synonym: "multiple carboxylase deficiency - neonatal onset" EXACT [DOID:859] synonym: "multiple carboxylase deficiency, early onset" RELATED [OMIM:253270] synonym: "multiple carboxylase deficiency, neonatal form" RELATED [OMIM:253270] synonym: "neonatal multiple carboxylase deficiency" EXACT [NCIT:C98842, Orphanet:79242] xref: DOID:859 {source="MONDO:equivalentTo"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D028922 {source="Orphanet:79242/e", source="DOID:859", source="MONDO:equivalentTo", source="Orphanet:79242"} xref: NCIT:C98842 {source="DOID:859", source="MONDO:equivalentTo"} xref: OMIM:253270 {source="Orphanet:79242/e", source="DOID:859", source="MONDO:equivalentTo", source="Orphanet:79242"} xref: Orphanet:79242 {source="OMIM:253270", source="MONDO:equivalentTo"} xref: SCTID:15307001 {source="DOID:859", source="MONDO:equivalentTo"} xref: SCTID:360369003 {source="DOID:859", source="MONDO:equivalentTo"} xref: UMLS:C0268581 {source="Orphanet:79242/e", source="OMIM:253270", source="DOID:859", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:79242", source="NCIT:C98842"} is_a: MONDO:0015454 {source="DOID:859", source="MESH:D028922", source="Orphanet:79242"} ! multiple carboxylase deficiency is_a: MONDO:0015653 ! monogenic epilepsy is_a: MONDO:0019213 ! cerebral organic aciduria is_a: MONDO:0019242 ! inborn disorder of branched-chain amino acid metabolism is_a: MONDO:0100033 {source="https://orcid.org/0000-0001-8486-0558"} ! metabolic epilepsy property_value: exactMatch DOID:859 property_value: exactMatch http://identifiers.org/mesh/D028922 property_value: exactMatch http://identifiers.org/snomedct/15307001 property_value: exactMatch http://identifiers.org/snomedct/360369003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268581 property_value: exactMatch https://omim.org/entry/253270 property_value: exactMatch NCIT:C98842 property_value: exactMatch Orphanet:79242 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2721/holocarboxylase-synthetase-deficiency xsd:anyURI {source="GARD:0002721"} [Term] id: MONDO:0009667 name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 def: "An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life." [NCIT:C126740] synonym: "MDDGA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:253280] synonym: "muscle-eye-brain-POMGNT1 related" EXACT [https://clinicalgenome.org/affiliation/50061/] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3" EXACT [NCIT:C126740] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3" RELATED [MONDO:Lexical, OMIM:253280] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related" RELATED [OMIM:253280] xref: DOID:0111236 {source="MONDO:equivalentTo"} xref: NCIT:C126740 {source="MONDO:equivalentTo"} xref: OMIM:253280 {source="MONDO:equivalentTo"} xref: Orphanet:899 {source="OMIM:253280", source="MONDO:relatedTo"} xref: UMLS:C3151519 {source="OMIM:253280", source="MONDO:equivalentTo", source="NCIT:C126740"} is_a: MONDO:0000171 {source="OMIM:253280", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A is_a: MONDO:0018939 {source="https://orcid.org/0000-0002-4142-7153"} ! muscle-eye-brain disease property_value: exactMatch DOID:0111236 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151519 property_value: exactMatch https://omim.org/entry/253280 property_value: exactMatch NCIT:C126740 [Term] id: MONDO:0009668 name: lethal multiple pterygium syndrome def: "Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia)of the neck, elbows, back of the knees, armpits, and fingers. Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, andbone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition." [GARD:0003834] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:33108"} synonym: "autosomal recessive lethal multiple pterygium syndrome" EXACT [Orphanet:33108] synonym: "lethal multiple pterygium syndrome" EXACT [GARD:0003834] synonym: "LMPS" EXACT ABBREVIATION [GARD:0003834, MONDO:Lexical, OMIM:253290, Orphanet:33108] synonym: "multiple pterygium syndrome lethal type" RELATED [GARD:0003834] synonym: "multiple pterygium syndrome, lethal type" RELATED [MONDO:Lexical, OMIM:253290] synonym: "pterygium syndrome multiple lethal type" RELATED [GARD:0003834] synonym: "pterygium syndrome, multiple, lethal type" RELATED [OMIM:253290] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C101038 {source="MONDO:equivalentTo"} xref: OMIM:253290 {source="Orphanet:33108", source="GARD:0003834", source="MONDO:equivalentTo", source="Orphanet:33108/e"} xref: Orphanet:33108 {source="OMIM:253290", source="GARD:0003834", source="MONDO:equivalentTo"} xref: SCTID:60192008 {source="MONDO:equivalentTo"} xref: UMLS:C1854678 {source="OMIM:253290", source="Orphanet:33108", source="GARD:0003834", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C101038", source="Orphanet:33108/e"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C101038"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:33108"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0017415 {source="DC-OMIM:253290", source="OMIM:253290", source="Orphanet:33108"} ! multiple pterygium syndrome property_value: exactMatch http://identifiers.org/snomedct/60192008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854678 property_value: exactMatch https://omim.org/entry/253290 property_value: exactMatch NCIT:C101038 property_value: exactMatch Orphanet:33108 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3834/multiple-pterygium-syndrome-lethal-type xsd:anyURI {source="GARD:0003834"} [Term] id: MONDO:0009669 name: spinal muscular atrophy, type 1 def: "A severe infantile form of proximal spinal muscular atrophy characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." [Orphanet:83330] subset: ordo_clinical_subtype {source="Orphanet:83330"} synonym: "hereditary motor neuropathy proximal type I" EXACT [DOID:13137] synonym: "HMN (hereditary motor neuropathy) proximal type I" EXACT [DOID:13137] synonym: "infantile muscular atrophy" BROAD [DOID:13137] synonym: "infantile spinal muscular atrophy" BROAD [Orphanet:83330] synonym: "muscular atrophy, infantile" RELATED [OMIM:253300] synonym: "progressive muscular atrophy of infancy" EXACT [DOID:13137] synonym: "proximal spinal muscular atrophy type 1" RELATED [Orphanet:83330] synonym: "proximal spinal muscular atrophy, type 1" RELATED [GARD:0007883] synonym: "severe infantile spinal muscular atrophy" EXACT [NCIT:C98670] synonym: "SMA type 1" EXACT [Orphanet:83330] synonym: "SMA type I" EXACT [Orphanet:83330] synonym: "SMA, infantile acute form" RELATED [OMIM:253300] synonym: "SMA-I" EXACT [Orphanet:83330] synonym: "SMA1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:253300, Orphanet:83330] synonym: "spinal muscular atrophies of childhood" BROAD [DOID:0060160] synonym: "spinal muscular atrophy 1" RELATED [GARD:0007883] synonym: "spinal muscular atrophy, type I" RELATED [MONDO:Lexical, OMIM:253300] synonym: "spinal muscular atrophy-1" EXACT [OMIM:253300, OMIM:genemap2] synonym: "survival motor neuron spinal muscular atrophy" EXACT [MONDO:0000689] synonym: "Werdnig Hoffmann disease" EXACT [GARD:0007883] synonym: "Werdnig-Hoffman disease" EXACT [DOID:13137] synonym: "Werdnig-Hoffmann disease" EXACT [OMIM:253300, Orphanet:83330] xref: DOID:0060160 {source="MONDO:mondoIsNarrowerThanSource"} xref: DOID:13137 {source="MONDO:equivalentTo"} xref: ICD9:335.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:0060160", source="DOID:13137"} xref: ICD9:335.11 {source="DOID:0060160"} xref: NCIT:C98670 {source="MONDO:equivalentTo", source="DOID:0060160", source="DOID:13137"} xref: OMIM:253300 {source="Orphanet:83330", source="MONDO:equivalentTo", source="Orphanet:83330/e", source="DOID:13137"} xref: Orphanet:83330 {source="MONDO:equivalentTo", source="OMIM:253300"} xref: SCTID:64383006 {source="MONDO:equivalentTo", source="DOID:0060160", source="DOID:13137"} is_a: MONDO:0019079 {source="Orphanet:83330"} ! proximal spinal muscular atrophy property_value: broadMatch DOID:0060160 property_value: exactMatch DOID:13137 property_value: exactMatch http://identifiers.org/snomedct/64383006 property_value: exactMatch https://omim.org/entry/253300 property_value: exactMatch NCIT:C98670 property_value: exactMatch Orphanet:83330 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009670 name: lethal congenital contracture syndrome 1 def: "Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies." [Orphanet:1486] subset: ordo_malformation_syndrome {source="Orphanet:1486"} synonym: "GLE1 lethal congenital contracture syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Herva disease" EXACT [Orphanet:1486] synonym: "Lccs" RELATED [OMIM:253310] synonym: "LCCS1" EXACT ABBREVIATION [DOID:0060559, MONDO:Lexical, OMIM:253310, Orphanet:1486] synonym: "lethal autosomal recessive syndrome of multiple congenital contractures" RELATED [GARD:0003227] synonym: "lethal congenital contracture syndrome 1" EXACT [MONDO:Lexical, OMIM:253310] synonym: "lethal congenital contracture syndrome caused by mutation in GLE1" EXACT [MONDO:design_pattern] synonym: "lethal congenital contracture syndrome type 1" EXACT [DOID:0060559, MONDORULE:1, OMIM:253310] synonym: "multiple contracture syndrome, Finnish type" EXACT [DOID:0060559, OMIM:253310, Orphanet:1486] xref: DOID:0060559 {source="MONDO:equivalentTo"} xref: MESH:C537194 {source="Orphanet:1486", source="MONDO:equivalentTo", source="Orphanet:1486/e", source="DOID:0060559"} xref: OMIM:253310 {source="Orphanet:1486", source="MONDO:equivalentTo", source="Orphanet:1486/e", source="DOID:0060559"} xref: Orphanet:1486 {source="MONDO:equivalentTo", source="OMIM:253310", source="DOID:0060559"} xref: SCTID:715418007 {source="MONDO:equivalentTo"} xref: UMLS:C1854664 {source="Orphanet:1486", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:253310", source="Orphanet:1486/e", source="DOID:0060559"} is_a: MONDO:0015161 {source="Orphanet:1486"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015222 {source="MONDO:Redundant", source="Orphanet:1486"} ! syndromic respiratory or mediastinal malformation is_a: MONDO:0015929 {source="Orphanet:1486"} ! thoracic malformation is_a: MONDO:0017436 {source="DC-OMIM:253310", source="DOID:0060559", source="MONDO:Redundant", source="OMIM:253310", source="Orphanet:1486"} ! lethal congenital contracture syndrome property_value: exactMatch DOID:0060559 property_value: exactMatch http://identifiers.org/mesh/C537194 property_value: exactMatch http://identifiers.org/snomedct/715418007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854664 property_value: exactMatch https://omim.org/entry/253310 property_value: exactMatch Orphanet:1486 property_value: excluded_subClassOf MONDO:0015221 {source="Orphanet:1486"} [Term] id: MONDO:0009671 name: intellectual disability-myopathy-short stature-endocrine defect syndrome def: "Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985." [Orphanet:3068] subset: ordo_disease {source="Orphanet:3068"} synonym: "Chudley Rozdilsky syndrome" RELATED [GARD:0001358] synonym: "Chudley syndrome" RELATED [OMIM:253320] synonym: "Chudley-Rozdilsky syndrome" EXACT [Orphanet:3068] synonym: "multicore myopathy with intellectual disability, short stature, and hypogonadotropic hypogonadism" RELATED [OMIM:253320] synonym: "multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism" RELATED DEPRECATED [OMIM:253320] xref: MESH:C535458 {source="MONDO:equivalentTo"} xref: OMIM:253320 {source="Orphanet:3068", source="MONDO:equivalentTo", source="Orphanet:3068/e"} xref: Orphanet:3068 {source="MONDO:equivalentTo", source="OMIM:253320"} xref: SCTID:764959000 {source="MONDO:equivalentTo"} xref: UMLS:C1854663 {source="Orphanet:3068", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:253320"} is_a: MONDO:0019952 {source="Orphanet:3068", source="https://orcid.org/0000-0001-5208-3432"} ! congenital myopathy relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: exactMatch http://identifiers.org/mesh/C535458 property_value: exactMatch http://identifiers.org/snomedct/764959000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854663 property_value: exactMatch https://omim.org/entry/253320 property_value: exactMatch Orphanet:3068 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:3068"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0009672 name: spinal muscular atrophy, type III def: "Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." [Orphanet:83419] subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:83419"} synonym: "childhood spinal muscular atrophy" BROAD [MONDO:design_pattern] synonym: "juvenile spinal muscular atrophy" BROAD [Orphanet:83419] synonym: "Kugelberg-Welander disease" EXACT [DOID:12376, ICD9CM:335.11, Orphanet:83419] synonym: "Kugelberg-Welander syndrome" RELATED [GARD:0000198, OMIM:253400] synonym: "KWS" RELATED ABBREVIATION [GARD:0000198] synonym: "muscular atrophy, juvenile" RELATED [GARD:0000198, OMIM:253400] synonym: "paediatric spinal muscular atrophy" RELATED OMO:0003005 [] synonym: "pediatric spinal muscular atrophy" RELATED [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "proximal spinal muscular atrophy type 3" RELATED [Orphanet:83419] synonym: "SMA 3" RELATED [GARD:0000198] synonym: "Sma 3" RELATED [OMIM:253400] synonym: "SMA type 3" EXACT [Orphanet:83419] synonym: "SMA type III" EXACT [Orphanet:83419] synonym: "SMA-III" EXACT [Orphanet:83419] synonym: "SMA3" EXACT ABBREVIATION [DOID:12376, GARD:0000198, MONDO:Lexical, OMIM:253400, Orphanet:83419] synonym: "spinal muscular atrophy III" EXACT [NCIT:C118847] synonym: "spinal muscular atrophy of childhood" RELATED [DOID:12376, MONDO:patterns/childhood] synonym: "spinal muscular atrophy type 3" EXACT [NCIT:C118847] synonym: "spinal muscular atrophy, familial" EXACT [DOID:12376] synonym: "spinal muscular atrophy, mild childhood and adolescent form" RELATED [GARD:0000198, OMIM:253400] synonym: "spinal muscular atrophy, type 3" RELATED [OMIM:253400] synonym: "spinal muscular atrophy, type III" EXACT [OMIM:253400] synonym: "spinal muscular atrophy, type III, modifier of" EXACT [OMIM:253400, OMIM:genemap2] synonym: "spinal muscular atrophy-3" EXACT [OMIM:253400, OMIM:genemap2] synonym: "type III spinal muscular atrophy" EXACT [DOID:12376] xref: DOID:12376 {source="MONDO:equivalentTo"} xref: ICD9:335.11 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12376"} xref: NCIT:C118847 {source="MONDO:equivalentTo", source="DOID:12376"} xref: OMIM:253400 {source="GARD:0000198", source="Orphanet:83419/e", source="MONDO:equivalentTo", source="Orphanet:83419", source="DOID:12376"} xref: Orphanet:83419 {source="GARD:0000198", source="MONDO:equivalentTo", source="OMIM:253400"} xref: SCTID:54280009 {source="MONDO:equivalentTo", source="DOID:12376"} xref: UMLS:C0152109 {source="GARD:0000198", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C118847", source="OMIM:253400", source="Orphanet:83419", source="DOID:12376"} xref: UMLS:C0700595 {source="MONDO:equivalentTo", source="DOID:12376"} is_a: MONDO:0019079 {source="Orphanet:83419"} ! proximal spinal muscular atrophy property_value: exactMatch DOID:12376 property_value: exactMatch http://identifiers.org/snomedct/54280009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152109 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0700595 property_value: exactMatch https://omim.org/entry/253400 property_value: exactMatch NCIT:C118847 property_value: exactMatch Orphanet:83419 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009673 name: spinal muscular atrophy, type II def: "Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." [Orphanet:83418] subset: ordo_clinical_subtype {source="Orphanet:83418"} synonym: "chronic infantile spinal muscular atrophy" EXACT [Orphanet:83418] synonym: "chronic spinal muscular atrophy" EXACT [Orphanet:83418] synonym: "Dubowitz disease" RELATED [GARD:0004945] synonym: "Intermediate spinal muscular atrophy" EXACT [Orphanet:83418] synonym: "muscular atrophy, spinal, infantile chronic form" EXACT [DOID:0050530, OMIM:253550] synonym: "muscular atrophy, spinal, Intermediate type" RELATED [OMIM:253550] synonym: "muscular atrophy, spinal, intermediate type" EXACT [DOID:0050530] synonym: "proximal spinal muscular atrophy type 2" RELATED [Orphanet:83418] synonym: "Sma 2" RELATED [OMIM:253550] synonym: "SMA II" RELATED [GARD:0004945] synonym: "SMA type 2" EXACT [Orphanet:83418] synonym: "SMA type II" EXACT [Orphanet:83418] synonym: "SMA-II" EXACT [Orphanet:83418] synonym: "SMA2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:253550, Orphanet:83418] synonym: "spinal muscular atrophy type 2" RELATED [GARD:0004945] synonym: "spinal muscular atrophy type II" RELATED [GARD:0004945] synonym: "spinal muscular atrophy, type 2" RELATED [OMIM:253550] synonym: "spinal muscular atrophy, type II" EXACT [OMIM:253550] synonym: "spinal muscular atrophy-2" EXACT [OMIM:253550, OMIM:genemap2] xref: DOID:0050530 {source="MONDO:equivalentTo"} xref: ICD9:335.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536879 {source="MONDO:equivalentTo"} xref: OMIM:253550 {source="DOID:0050530", source="Orphanet:83418/e", source="MONDO:equivalentTo", source="Orphanet:83418"} xref: Orphanet:83418 {source="MONDO:equivalentTo", source="OMIM:253550"} xref: SCTID:128212001 {source="MONDO:equivalentTo"} is_a: MONDO:0019079 {source="Orphanet:83418"} ! proximal spinal muscular atrophy property_value: exactMatch DOID:0050530 property_value: exactMatch http://identifiers.org/mesh/C536879 property_value: exactMatch http://identifiers.org/snomedct/128212001 property_value: exactMatch https://omim.org/entry/253550 property_value: exactMatch Orphanet:83418 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009675 name: autosomal recessive limb-girdle muscular dystrophy type 2A def: "Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy." [Orphanet:267] subset: ordo_disease {source="Orphanet:267"} synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in CAPN3" EXACT [MONDO:design_pattern] synonym: "autosomal recessive limb-girdle muscular dystrophy type 2A" EXACT [] synonym: "calpainopathy" EXACT [OMIM:253600] synonym: "CAPN3 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Leyden-Moebius muscular dystrophy" EXACT [DOID:0110275] synonym: "LGMD2" RELATED ABBREVIATION [GARD:0001057] synonym: "LGMD2A" EXACT ABBREVIATION [DOID:0110275, MONDO:Lexical, OMIM:253600, Orphanet:267] synonym: "limb-girdle muscular dystrophy due to calpain deficiency" EXACT [DOID:0110275, Orphanet:267] synonym: "limb-girdle muscular dystrophy type 2" RELATED [GARD:0001057] synonym: "limb-girdle muscular dystrophy type 2A" EXACT [NCIT:C142079] synonym: "muscular dystrophy limb girdle type 2A, erb type" RELATED [GARD:0003845] synonym: "muscular dystrophy, limb-girdle, autosomal recessive 1" EXACT [OMIM:253600, OMIM:genemap2] synonym: "muscular dystrophy, limb-girdle, type 2" RELATED [OMIM:253600] synonym: "muscular dystrophy, limb-girdle, type 2A" EXACT [DOID:0110275, MONDO:Lexical, OMIM:253600] synonym: "muscular dystrophy, Pelvofemoral" RELATED [OMIM:253600] synonym: "myositis, eosinophilic" RELATED [OMIM:253600] synonym: "pelvofemoral muscular dystrophy" EXACT [DOID:0110275] synonym: "primary calpainopathy" EXACT [DOID:0110275, Orphanet:267] xref: DOID:0110275 {source="MONDO:equivalentTo"} xref: MESH:C535895 {source="MONDO:equivalentTo"} xref: NCIT:C142079 {source="MONDO:equivalentTo"} xref: OMIM:253600 {source="Orphanet:267/e", source="MONDO:equivalentTo", source="DOID:0110275", source="Orphanet:267"} xref: Orphanet:267 {source="MONDO:equivalentTo", source="DOID:0110275", source="OMIM:253600"} xref: SCTID:715341003 {source="MONDO:equivalentTo"} is_a: MONDO:0015152 {source="DOID:0110275", source="MONDO:Redundant", source="OMIM:253600", source="Orphanet:267"} ! autosomal recessive limb-girdle muscular dystrophy is_a: MONDO:0016152 {source="Orphanet:267"} ! qualitative or quantitative defects of calpain property_value: exactMatch DOID:0110275 property_value: exactMatch http://identifiers.org/mesh/C535895 property_value: exactMatch http://identifiers.org/snomedct/715341003 property_value: exactMatch https://omim.org/entry/253600 property_value: exactMatch NCIT:C142079 property_value: exactMatch Orphanet:267 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009676 name: autosomal recessive limb-girdle muscular dystrophy type 2B def: "Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed." [Orphanet:268] subset: ordo_disease {source="Orphanet:268"} synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DYSF" EXACT [MONDO:design_pattern] synonym: "DYSF autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "LGMD2B" EXACT ABBREVIATION [DOID:0110276, MONDO:Lexical, OMIM:253601, Orphanet:268] synonym: "LGMD3" EXACT ABBREVIATION [DOID:0110276] synonym: "limb-girdle muscular dystrophy due to dysferlin deficiency" EXACT [DOID:0110276, Orphanet:268] synonym: "limb-girdle muscular dystrophy type 2B" EXACT [NCIT:C142080] synonym: "limb-girdle muscular dystrophy type 3" EXACT [DOID:0110276] synonym: "limb-girdle muscular dystrophy, type 2B" RELATED [GARD:0008574] synonym: "muscular dystrophy, limb-girdle, autosomal recessive 2" EXACT [OMIM:253601, OMIM:genemap2] synonym: "muscular dystrophy, limb-girdle, type 2B" RELATED [MONDO:Lexical, OMIM:253601] synonym: "muscular dystrophy, limb-girdle, type 3" RELATED [OMIM:253601] xref: DOID:0110276 {source="MONDO:equivalentTo"} xref: MESH:C535899 {source="MONDO:equivalentTo"} xref: NCIT:C142080 {source="MONDO:equivalentTo"} xref: OMIM:253601 {source="Orphanet:268", source="MONDO:equivalentTo", source="Orphanet:268/e", source="DOID:0110276"} xref: Orphanet:268 {source="MONDO:equivalentTo", source="DOID:0110276", source="OMIM:253601"} xref: SCTID:718179003 {source="MONDO:equivalentTo"} is_a: MONDO:0015152 {source="DOID:0110276", source="MONDO:Redundant", source="OMIM:253601", source="Orphanet:268"} ! autosomal recessive limb-girdle muscular dystrophy is_a: MONDO:0016145 {source="Orphanet:268"} ! qualitative or quantitative defects of dysferlin property_value: exactMatch DOID:0110276 property_value: exactMatch http://identifiers.org/mesh/C535899 property_value: exactMatch http://identifiers.org/snomedct/718179003 property_value: exactMatch https://omim.org/entry/253601 property_value: exactMatch NCIT:C142080 property_value: exactMatch Orphanet:268 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009677 name: autosomal recessive limb-girdle muscular dystrophy type 2C def: "Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported." [Orphanet:353] subset: ordo_disease {source="Orphanet:353"} synonym: "Adhalin deficiency, secondary" RELATED [OMIM:253700] synonym: "autosomal recessive Duchenne-like muscular dystrophy type 1" EXACT [DOID:0110277] synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCG" EXACT [MONDO:design_pattern] synonym: "autosomal recessive limb-girdle muscular dystrophy type 2C" EXACT [] synonym: "deficiency of sarcoglycan gamma" EXACT [DOID:0110277] synonym: "Dmda" RELATED [OMIM:253700] synonym: "DMDA1" EXACT ABBREVIATION [DOID:0110277] synonym: "Duchenne-like muscular dystrophy, autosomal recessive, type 1" RELATED [OMIM:253700] synonym: "gamma-sarcoglycanopathy" EXACT [DOID:0110277, Orphanet:353] synonym: "LGMD2C" EXACT ABBREVIATION [DOID:0110277, MONDO:Lexical, OMIM:253700, Orphanet:353] synonym: "limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency" EXACT [DOID:0110277, Orphanet:353] synonym: "limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency" RELATED [GARD:0002429] synonym: "limb-girdle muscular dystrophy, type 2C" RELATED [GARD:0002429] synonym: "Maghrebian myopathy" EXACT [DOID:0110277] synonym: "muscular dystrophy, Duchenne-like" RELATED [OMIM:253700] synonym: "muscular dystrophy, limb-girdle, autosomal recessive 5" EXACT [OMIM:253700, OMIM:genemap2] synonym: "muscular dystrophy, limb-girdle, type 2C" EXACT [DOID:0110277, MONDO:Lexical, OMIM:253700] synonym: "sarcoglycan, gamma, deficiency of" RELATED [OMIM:253700] synonym: "SCARMD" EXACT ABBREVIATION [DOID:0110277] synonym: "severe childhood autosomal recessive muscular dystrophy North African type" EXACT [DOID:0110277] synonym: "severe childhood autosomal recessive muscular dystrophy, North African type" RELATED [OMIM:253700] synonym: "SGCG autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110277 {source="MONDO:equivalentTo"} xref: MESH:C535900 {source="MONDO:equivalentTo"} xref: OMIM:253700 {source="Orphanet:353/e", source="MONDO:equivalentTo", source="DOID:0110277", source="Orphanet:353"} xref: Orphanet:353 {source="MONDO:equivalentTo", source="DOID:0110277", source="OMIM:253700"} xref: UMLS:C0410173 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:353", source="OMIM:253700"} is_a: MONDO:0015152 {source="DOID:0110277", source="MONDO:Redundant", source="OMIM:253700", source="Orphanet:353"} ! autosomal recessive limb-girdle muscular dystrophy is_a: MONDO:0016143 {source="Orphanet:353"} ! qualitative or quantitative defects of gamma-sarcoglycan is_a: MONDO:0016333 ! familial dilated cardiomyopathy property_value: exactMatch DOID:0110277 property_value: exactMatch http://identifiers.org/mesh/C535900 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0410173 property_value: exactMatch https://omim.org/entry/253700 property_value: exactMatch Orphanet:353 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009678 name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 def: "Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment." [Orphanet:272] subset: ordo_disease {source="Orphanet:272"} synonym: "congenital muscular dystrophy, Fukuyama type" RELATED [Orphanet:272] synonym: "FCMD" EXACT ABBREVIATION [Orphanet:272] synonym: "Fukuyama congenital muscular dystrophy" EXACT [OMIM:253800, Orphanet:272] synonym: "MDDGA4" EXACT ABBREVIATION [OMIM:253800] synonym: "muscle-eye-brain-FKTN related" EXACT [https://clinicalgenome.org/affiliation/50061/] synonym: "muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4" EXACT [NCIT:C126741] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4" EXACT [OMIM:253800] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related" EXACT [OMIM:253800] xref: DOID:0050559 {source="MONDO:equivalentTo"} xref: NCIT:C126741 {source="MONDO:equivalentTo"} xref: OMIM:253800 {source="MONDO:equivalentTo", source="DOID:0050559", source="Orphanet:272", source="Orphanet:272/ntbt"} xref: Orphanet:272 {source="MONDO:equivalentTo", source="DOID:0050559", source="OMIM:253800"} xref: Orphanet:899 {source="MONDO:relatedTo", source="OMIM:253800"} xref: SCTID:111502003 {source="MONDO:equivalentTo"} xref: UMLS:C0410174 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:272", source="OMIM:253800", source="Orphanet:272/e"} is_a: MONDO:0000171 {source="OMIM:253800", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A is_a: MONDO:0018939 {source="https://orcid.org/0000-0002-4142-7153"} ! muscle-eye-brain disease is_a: MONDO:0700067 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in FKTN property_value: exactMatch DOID:0050559 property_value: exactMatch http://identifiers.org/snomedct/111502003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0410174 property_value: exactMatch https://omim.org/entry/253800 property_value: exactMatch NCIT:C126741 property_value: exactMatch Orphanet:272 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0009679 name: arthrogryposis due to muscular dystrophy subset: gard_rare {source="GARD:0000779"} subset: ordo_disease {source="Orphanet:1155"} synonym: "congenital muscular dystrophy producing arthrogryposis" EXACT [DOID:0110631] synonym: "muscular dystrophy, congenital, producing arthrogryposis" RELATED [OMIM:253900] xref: DOID:0110631 {source="MONDO:equivalentObsolete"} xref: MESH:C564985 {source="MONDO:equivalentTo"} xref: OMIM:253900 {source="Orphanet:1155", source="MONDO:equivalentObsolete", source="Orphanet:1155/e", source="DOID:0110631"} xref: Orphanet:1155 {source="OMIM:253900", source="MONDO:equivalentObsolete", source="DOID:0110631"} xref: UMLS:C1850865 {source="OMIM:253900", source="Orphanet:1155", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015168 {source="Orphanet:1155"} ! arthrogryposis multiplex congenita is_a: MONDO:0019950 {source="DOID:0110631", source="Orphanet:1155"} ! congenital muscular dystrophy property_value: exactMatch http://identifiers.org/mesh/C564985 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850865 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/779/arthrogryposis-due-to-muscular-dystrophy xsd:anyURI {source="GARD:0000779"} [Term] id: MONDO:0009680 name: congenital muscular dystrophy-infantile cataract-hypogonadism syndrome def: "Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive." [Orphanet:1875] subset: gard_rare subset: ordo_disease {source="Orphanet:1875"} synonym: "Bassoe syndrome" EXACT [Orphanet:1875] synonym: "benign muscular dystrophy with hypergonadotrophic hypogonadism and congenital cataract" RELATED [GARD:0000835] synonym: "familial congenital muscular dystrophy with gonadal dysgenesis" RELATED [GARD:0003842] synonym: "muscular dystrophy, congenital, infantile with cataract and hypogonadism" RELATED [GARD:0003842] synonym: "muscular dystrophy, congenital, with infantile cataract and hypogonadism" RELATED [OMIM:254000] xref: OMIM:254000 {source="MONDO:equivalentTo", source="Orphanet:1875", source="Orphanet:1875/e"} xref: Orphanet:1875 {source="MONDO:equivalentTo", source="OMIM:254000"} xref: UMLS:C1850864 {source="MONDO:equivalentTo", source="Orphanet:1875", source="MONDO:ncbi_mim2gene_medline", source="OMIM:254000", source="Orphanet:1875/e"} xref: UMLS:C2931578 {source="MONDO:equivalentTo", source="Orphanet:1875", source="GARD:0000835", source="Orphanet:1875/e"} is_a: MONDO:0019950 {source="Orphanet:1875"} ! congenital muscular dystrophy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850864 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931578 property_value: exactMatch https://omim.org/entry/254000 property_value: exactMatch Orphanet:1875 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0009683 name: autosomal recessive limb-girdle muscular dystrophy type 2H def: "Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement." [Orphanet:1878] subset: ordo_disease {source="Orphanet:1878"} synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRIM32" EXACT [MONDO:design_pattern] synonym: "autosomal recessive limb-girdle muscular dystrophy type 2H" EXACT [] synonym: "LGMD2H" EXACT ABBREVIATION [DOID:0110282, MONDO:Lexical, OMIM:254110, Orphanet:1878] synonym: "limb-girdle muscular dystrophy due to TRIM32 deficiency" EXACT [DOID:0110282, Orphanet:1878] synonym: "limb-girdle muscular dystrophy type 2H" RELATED [GARD:0003844] synonym: "muscular dystrophy Hutterite type" EXACT [DOID:0110282] synonym: "muscular dystrophy limb-girdle type 2H" RELATED [GARD:0003844] synonym: "muscular dystrophy, Hutterite type" RELATED [OMIM:254110] synonym: "muscular dystrophy, limb-girdle, autosomal recessive 8" EXACT [OMIM:254110, OMIM:genemap2] synonym: "muscular dystrophy, limb-girdle, type 2H" RELATED [MONDO:Lexical, OMIM:254110] synonym: "Sarcotubular myopathy" EXACT [Orphanet:1878] synonym: "sarcotubular myopathy" EXACT [DOID:0110282] synonym: "TRIM32 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110282 {source="MONDO:equivalentTo"} xref: ICD9:359.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535897 {source="MONDO:equivalentTo"} xref: OMIM:254110 {source="Orphanet:1878/e", source="DOID:0110282", source="MONDO:equivalentTo", source="Orphanet:1878"} xref: Orphanet:1878 {source="DOID:0110282", source="MONDO:equivalentTo", source="OMIM:254110"} xref: SCTID:43226001 {source="MONDO:equivalentTo"} xref: UMLS:C0270968 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:254110", source="Orphanet:1878"} is_a: MONDO:0015152 {source="DOID:0110282", source="MONDO:Redundant", source="OMIM:254110", source="Orphanet:1878"} ! autosomal recessive limb-girdle muscular dystrophy is_a: MONDO:0016153 {source="Orphanet:1878"} ! qualitative or quantitative defects of TRIM32 property_value: exactMatch DOID:0110282 property_value: exactMatch http://identifiers.org/mesh/C535897 property_value: exactMatch http://identifiers.org/snomedct/43226001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270968 property_value: exactMatch https://omim.org/entry/254110 property_value: exactMatch Orphanet:1878 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009685 name: Miyoshi myopathy def: "A distal myopathy, characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes." [Orphanet:45448] subset: gard_rare {source="GARD:0009676"} subset: ordo_disease {source="Orphanet:45448"} subset: prototype_pattern synonym: "Miyoshi distal myopathy" EXACT [GARD:0009676] synonym: "Miyoshi muscular dystrophy" EXACT [DOID:0070198] synonym: "Miyoshi muscular dystrophy 1" NARROW [MONDO:Lexical, OMIM:254130] synonym: "Miyoshi muscular dystrophy type 1" NARROW [MONDORULE:1, OMIM:254130] synonym: "MM" EXACT ABBREVIATION [GARD:0009676] synonym: "MMD1" NARROW ABBREVIATION [MONDO:Lexical, OMIM:254130] synonym: "muscular dystrophy, distal, late onset, autosomal recessive" RELATED [GARD:0009676] xref: DOID:0070198 {source="MONDO:equivalentTo"} xref: MESH:C537480 {source="Orphanet:45448", source="DOID:0070198", source="MONDO:equivalentTo", source="Orphanet:45448/e"} xref: NCIT:C118846 {source="MONDO:equivalentTo"} xref: OMIMPS:254130 {source="DOID:0070198", source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:45448 {source="DOID:0070198", source="OMIM:254130", source="MONDO:equivalentTo"} is_a: MONDO:0016109 {source="Orphanet:45448"} ! autosomal recessive distal myopathy property_value: exactMatch DOID:0070198 property_value: exactMatch http://identifiers.org/mesh/C537480 property_value: exactMatch https://omim.org/phenotypicSeries/PS254130 property_value: exactMatch NCIT:C118846 property_value: exactMatch Orphanet:45448 property_value: excluded_subClassOf MONDO:0016145 {source="Orphanet:45448"} [Term] id: MONDO:0009694 name: myeloperoxidase deficiency subset: gard_rare {source="GARD:0003868"} subset: ordo_disease {source="Orphanet:2587"} synonym: "MPO deficiency" EXACT [OMIM:254600, Orphanet:2587] synonym: "MPOD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:254600] synonym: "myeloperoxidase deficiency" EXACT [MONDO:Lexical, OMIM:254600] xref: ICD9:288.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562864 {source="MONDO:equivalentTo"} xref: OMIM:254600 {source="Orphanet:2587", source="MONDO:equivalentTo", source="Orphanet:2587/e"} xref: Orphanet:2587 {source="MONDO:equivalentTo", source="OMIM:254600"} xref: SCTID:234433009 {source="MONDO:equivalentTo"} xref: UMLS:C0398595 {source="Orphanet:2587", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2587/e", source="OMIM:254600"} is_a: MONDO:0015978 {source="Orphanet:2587"} ! functional neutrophil defect is_a: MONDO:0024626 ! defective phagocytic cell engulfment property_value: exactMatch http://identifiers.org/mesh/C562864 property_value: exactMatch http://identifiers.org/snomedct/234433009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398595 property_value: exactMatch https://omim.org/entry/254600 property_value: exactMatch Orphanet:2587 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3868/myeloperoxidase-deficiency xsd:anyURI {source="GARD:0003868"} [Term] id: MONDO:0009696 name: juvenile myoclonic epilepsy def: "Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)." [Orphanet:307] subset: gard_rare {source="GARD:0006808"} subset: ordo_disease {source="Orphanet:307"} subset: predisposition synonym: "EJM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:254770] synonym: "epilepsy, myoclonic juvenile" EXACT [MONDO:Lexical, OMIM:254770] synonym: "Janz syndrome" NARROW [DOID:4890, OMIM:254770] synonym: "JME" EXACT ABBREVIATION [Orphanet:307] synonym: "juvenile myoclonus epilepsy" EXACT [Orphanet:307] synonym: "myoclonic epilepsy, juvenile" EXACT [OMIM:254770] synonym: "myoclonic epilepsy, juvenile, 1" EXACT [GARD:0006808] synonym: "myoclonic epilepsy, juvenile, susceptibility to, 1" NARROW [OMIM:254770] synonym: "petit mal, impulsive" NARROW [OMIM:254770] xref: DOID:4890 {source="MONDO:equivalentTo"} xref: EFO:0006572 {source="MONDO:equivalentTo"} xref: ICD9:345.10 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10071082 {source="Orphanet:307", source="Orphanet:307/e"} xref: MESH:D020190 {source="MONDO:equivalentTo", source="Orphanet:307", source="Orphanet:307/e", source="DOID:4890"} xref: NCIT:C84796 {source="MONDO:equivalentTo", source="DOID:4890"} xref: OMIM:254770 {source="MONDO:equivalentTo", source="Orphanet:307", source="Orphanet:307/e", source="DOID:4890"} xref: OMIM:606904 {source="MONDO:equivalentObsolete", source="GARD:0006808"} xref: OMIMPS:254770 {source="MONDO:equivalentTo"} xref: Orphanet:307 {source="MONDO:equivalentTo", source="OMIM:254770"} xref: SCTID:6204001 {source="MONDO:equivalentTo", source="DOID:4890"} xref: UMLS:C0270853 {source="MONDO:equivalentTo", source="OMIM:254770", source="Orphanet:307", source="Orphanet:307/e", source="DOID:4890", source="NCIT:C84796"} is_a: EFO:0004280 {source="MONDO:0017652-obsoleted"} ! movement disorder is_a: MONDO:0000414 ! childhood electroclinical syndrome is_a: MONDO:0000415 {source="DOID:4890"} ! adolescence-adult electroclinical syndrome is_a: MONDO:0017704 {source="Orphanet:307"} ! familial partial epilepsy is_a: MONDO:0100030 {source="https://orcid.org/0000-0001-8486-0558"} ! adolescent/adult-onset epilepsy syndrome property_value: closeMatch http://identifiers.org/meddra/10071082 property_value: exactMatch DOID:4890 property_value: exactMatch http://identifiers.org/mesh/D020190 property_value: exactMatch http://identifiers.org/snomedct/6204001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270853 property_value: exactMatch https://omim.org/entry/254770 property_value: exactMatch https://omim.org/phenotypicSeries/PS254770 property_value: exactMatch NCIT:C84796 property_value: exactMatch Orphanet:307 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6808/juvenile-myoclonic-epilepsy xsd:anyURI {source="GARD:0006808"} [Term] id: MONDO:0009697 name: Lafora disease def: "Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline." [Orphanet:501] subset: gard_rare {source="GARD:0008214"} subset: ordo_disease {source="Orphanet:501"} synonym: "epilepsy progressive myoclonic 2" RELATED [GARD:0008214] synonym: "epilepsy, progressive myoclonic 2A (Lafora)" EXACT [OMIM:254780, OMIM:genemap2] synonym: "epilepsy, progressive myoclonic 2B (Lafora)" EXACT [OMIM:254780, OMIM:genemap2] synonym: "epilepsy, progressive myoclonic, 2A" RELATED [OMIM:254780] synonym: "epilepsy, progressive myoclonic, 2B" RELATED [OMIM:254780] synonym: "EPM2" EXACT ABBREVIATION [Orphanet:501] synonym: "Epm2" RELATED [OMIM:254780] synonym: "Lafora body disease" RELATED [OMIM:254780] synonym: "Lafora body disorder" RELATED [GARD:0008214] synonym: "Lafora disease" EXACT [OMIM:254780] synonym: "Lafora progressive myoclonic epilepsy" EXACT [DOID:3534] synonym: "Lafora's disease" EXACT [DOID:3534] synonym: "Melf" RELATED [OMIM:254780] synonym: "myoclonic epilepsy of Lafora" EXACT [DOID:3534, OMIM:254780] synonym: "PME type 2" EXACT [Orphanet:501] synonym: "progressive myoclonic epilepsy type 2" EXACT [Orphanet:501] synonym: "progressive myoclonus epilepsy type 2" EXACT [Orphanet:501] xref: DOID:3534 {source="MONDO:equivalentTo"} xref: MedDRA:10054030 {source="Orphanet:501", source="Orphanet:501/e"} xref: MESH:D020192 {source="Orphanet:501", source="MONDO:equivalentTo", source="DOID:3534", source="Orphanet:501/e"} xref: NCIT:C84804 {source="MONDO:equivalentTo", source="DOID:3534"} xref: OMIM:254780 {source="Orphanet:501", source="MONDO:equivalentTo", source="DOID:3534", source="Orphanet:501/e"} xref: Orphanet:501 {source="OMIM:254780", source="MONDO:equivalentTo"} xref: SCTID:230425004 {source="MONDO:equivalentTo", source="DOID:3534"} xref: UMLS:C0751783 {source="Orphanet:501", source="OMIM:254780", source="MONDO:equivalentTo", source="DOID:3534", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C84804", source="Orphanet:501/e"} is_a: EFO:0004280 {source="MONDO:0017652-obsoleted"} ! movement disorder is_a: MONDO:0002412 {source="PMID:33340416"} ! disorder of glycogen metabolism is_a: MONDO:0020074 {source="DC-OMIM:254780", source="DOID:3534", source="MESH:D020192", source="OMIM:254780", source="Orphanet:501"} ! progressive myoclonus epilepsy property_value: closeMatch http://identifiers.org/meddra/10054030 property_value: exactMatch DOID:3534 property_value: exactMatch http://identifiers.org/mesh/D020192 property_value: exactMatch http://identifiers.org/snomedct/230425004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751783 property_value: exactMatch https://omim.org/entry/254780 property_value: exactMatch NCIT:C84804 property_value: exactMatch Orphanet:501 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8214/lafora-disease xsd:anyURI {source="GARD:0008214"} [Term] id: MONDO:0009698 name: Unverricht-Lundborg syndrome def: "Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time." [Orphanet:308] subset: ordo_malformation_syndrome {source="Orphanet:308"} synonym: "Baltic myoclonic epilepsy" RELATED [OMIM:254800] synonym: "epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)" EXACT [OMIM:254800, OMIM:genemap2] synonym: "epilepsy, progressive myoclonic type 1" RELATED [GARD:0003876] synonym: "epilepsy, progressive myoclonic, 1" RELATED [OMIM:254800] synonym: "epilepsy, progressive myoclonic, 1A" RELATED [OMIM:254800] synonym: "epilepsy, progressive myoclonus 1" RELATED [GARD:0003876] synonym: "EPM1" RELATED ABBREVIATION [GARD:0003876] synonym: "myoclonic epilepsy of Unverricht and Lundborg" RELATED [OMIM:254800] synonym: "myoclonus progressive epilepsy of Unverricht and Lundborg" RELATED [GARD:0003876] synonym: "PME type 1" EXACT [Orphanet:308] synonym: "progressive myoclonic epilepsy" RELATED [OMIM:254800] synonym: "progressive myoclonic epilepsy type 1" EXACT [Orphanet:308] synonym: "progressive myoclonus epilepsy Baltic myoclonic epilepsy" RELATED [GARD:0003876] synonym: "progressive myoclonus epilepsy type 1" EXACT [Orphanet:308] synonym: "ULD" EXACT ABBREVIATION [Orphanet:308] synonym: "Uld" RELATED [OMIM:254800] synonym: "Unverricht - Lundborg disease" EXACT [DOID:3535] synonym: "Unverricht's disease" EXACT [DOID:3535] synonym: "Unverricht-Lundborg disease" EXACT [DOID:3535] synonym: "Unverricht-Lundborg syndrome" EXACT [] xref: DOID:0111452 {source="MONDO:equivalentTo"} xref: DOID:3535 {source="MONDO:equivalentTo"} xref: MedDRA:10054895 {source="Orphanet:308", source="Orphanet:308/e"} xref: MESH:D020194 {source="DOID:3535", source="MONDO:equivalentTo", source="Orphanet:308", source="Orphanet:308/e"} xref: OMIM:254800 {source="DOID:3535", source="MONDO:equivalentTo", source="Orphanet:308", source="Orphanet:308/e"} xref: Orphanet:308 {source="MONDO:equivalentTo", source="OMIM:254800"} xref: SCTID:230423006 {source="DOID:3535", source="MONDO:equivalentTo"} xref: UMLS:C0751785 {source="DOID:3535", source="MONDO:equivalentTo", source="Orphanet:308", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:308/e", source="OMIM:254800"} is_a: EFO:0004280 {source="MONDO:0017652-obsoleted"} ! movement disorder is_a: MONDO:0020074 {source="DC-OMIM:254800", source="DOID:3535", source="MESH:D020194", source="OMIM:254800", source="Orphanet:308"} ! progressive myoclonus epilepsy property_value: closeMatch http://identifiers.org/meddra/10054895 property_value: exactMatch DOID:0111452 property_value: exactMatch DOID:3535 property_value: exactMatch http://identifiers.org/mesh/D020194 property_value: exactMatch http://identifiers.org/snomedct/230423006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751785 property_value: exactMatch https://omim.org/entry/254800 property_value: exactMatch Orphanet:308 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009699 name: action myoclonus-renal failure syndrome def: "Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms." [Orphanet:163696] subset: ordo_disease {source="Orphanet:163696"} synonym: "action myoclonus-renal failure syndrome" EXACT [OMIM:254900] synonym: "AMRF" EXACT ABBREVIATION [Orphanet:163696] synonym: "epilepsy, progressive myoclonic 4, with or without renal failure" EXACT [OMIM:254900, OMIM:genemap2] synonym: "epilepsy, progressive myoclonic, 4, with or without renal failure" EXACT [MONDO:Lexical, OMIM:254900] synonym: "EPM4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:254900, Orphanet:163696] synonym: "myoclonus-nephropathy syndrome" EXACT [OMIM:254900, Orphanet:163696] synonym: "progressive myoclonic epilepsy type 4" EXACT [Orphanet:163696] xref: DOID:0111444 {source="MONDO:equivalentTo"} xref: OMIM:254900 {source="MONDO:equivalentTo", source="Orphanet:163696", source="Orphanet:163696/e"} xref: Orphanet:163696 {source="MONDO:equivalentTo", source="OMIM:254900"} xref: SCTID:764453009 {source="MONDO:equivalentTo"} is_a: MONDO:0020074 {source="DC-OMIM:254900", source="OMIM:254900"} ! progressive myoclonus epilepsy property_value: exactMatch DOID:0111444 property_value: exactMatch http://identifiers.org/snomedct/764453009 property_value: exactMatch https://omim.org/entry/254900 property_value: exactMatch Orphanet:163696 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009700 name: obsolete Carey-Fineman-Ziter syndrome property_value: IAO:0000231 IAO:0000229 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5619 xsd:anyURI is_obsolete: true replaced_by: MONDO:0031415 [Term] id: MONDO:0009703 name: myopathy with abnormal lipid metabolism synonym: "lipid storage myopathy" RELATED [OMIM:255100] synonym: "LIPID storage myopathy due to flavin adenine dinucleotide synthetase deficiency" RELATED [OMIM:255100] synonym: "lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency" RELATED [OMIM:255100] synonym: "LSMFLAD" RELATED ABBREVIATION [OMIM:255100] synonym: "myopathy with abnormal lipid metabolism" EXACT [OMIM:255100] xref: MESH:C562935 {source="MONDO:equivalentTo"} xref: OMIM:255100 {source="MONDO:equivalentTo"} is_a: EFO:0004145 {source="https://orcid.org/0000-0002-4142-7153"} ! myopathy property_value: exactMatch http://identifiers.org/mesh/C562935 property_value: exactMatch https://omim.org/entry/255100 [Term] id: MONDO:0009704 name: carnitine palmitoyl transferase II deficiency, myopathic form def: "The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency." [Orphanet:228302] subset: ordo_clinical_subtype {source="Orphanet:228302"} synonym: "Carnitine palmitoyl transferase deficiency type 2, adult-onset form" EXACT [Orphanet:228302] synonym: "Carnitine palmitoyl transferase deficiency type 2, myopathic form" EXACT [Orphanet:228302] synonym: "Carnitine palmitoyl transferase II deficiency, adult-onset form" EXACT [Orphanet:228302] synonym: "carnitine palmitoyl transferase II deficiency, myopathic form" EXACT [] synonym: "Carnitine Palmitoyltransferase 2 deficiency, adult-onset" RELATED [OMIM:255110] synonym: "Carnitine Palmitoyltransferase 2 deficiency, myopathic" RELATED [OMIM:255110] synonym: "Carnitine Palmitoyltransferase 2 deficiency, myopathic, stress-induced" RELATED [OMIM:255110] synonym: "CARNITINE PALMITOYLTRANSFERASE II deficiency, late-onset" RELATED [OMIM:255110] synonym: "CARNITINE PALMITOYLTRANSFERASE II deficiency, myopathic, stress-induced" RELATED [OMIM:255110] synonym: "CPT 2 deficiency, myopathic" RELATED [OMIM:255110] synonym: "CPT II deficiency, myopathic, stress-induced" EXACT [OMIM:255110, OMIM:genemap2] synonym: "Cpt2 deficiency, late-onset" RELATED [OMIM:255110] synonym: "CPT2, adult-onset form" EXACT [Orphanet:228302] synonym: "CPT2, myopathic form" EXACT [Orphanet:228302] synonym: "CPTII, adult-onset form" EXACT [Orphanet:228302] synonym: "CPTII, myopathic form" EXACT [Orphanet:228302] xref: MESH:C563461 {source="MONDO:equivalentTo"} xref: OMIM:255110 {source="Orphanet:228302/e", source="MONDO:equivalentTo", source="Orphanet:228302"} xref: Orphanet:228302 {source="OMIM:255110", source="MONDO:equivalentTo"} xref: UMLS:C1833508 {source="OMIM:255110", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:228302"} is_a: MONDO:0015515 {source="DC-OMIM:255110", source="Orphanet:228302"} ! carnitine palmitoyltransferase II deficiency property_value: exactMatch http://identifiers.org/mesh/C563461 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833508 property_value: exactMatch https://omim.org/entry/255110 property_value: exactMatch Orphanet:228302 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009705 name: carnitine palmitoyl transferase 1A deficiency def: "Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure." [Orphanet:156] comment: Editor note: consider adding sibling for CPT-1B subset: clingen subset: gard_rare subset: ordo_disease {source="Orphanet:156"} synonym: "Carnitine palmitoyl transferase 1 deficiency" RELATED [GARD:0001120] synonym: "carnitine palmitoyl transferase 1A deficiency" EXACT [DOID:0090129] synonym: "Carnitine palmitoyl transferase IA deficiency" EXACT [Orphanet:156] synonym: "carnitine palmitoyl transferase IA deficiency" EXACT [DOID:0090129] synonym: "Carnitine Palmitoyltransferase 1 deficiency" RELATED [OMIM:255120] synonym: "Carnitine Palmitoyltransferase 1A deficiency" RELATED [OMIM:255120] synonym: "Carnitine palmitoyltransferase 1A deficiency" RELATED [GARD:0001120] synonym: "carnitine palmitoyltransferase I deficiency" EXACT [OMIM:255120] synonym: "CPT 1 deficiency" RELATED [OMIM:255120] synonym: "CPT deficiency, hepatic, type 1" RELATED [OMIM:255120] synonym: "cpt deficiency, hepatic, type IA" EXACT [OMIM:255120, OMIM:genemap2] synonym: "CPT I deficiency" EXACT [DOID:0090129] synonym: "CPT1A deficiency" EXACT [DOID:0090129, Orphanet:156] synonym: "CPT1A disorder of carnitine cycle and carnitine transport" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "disorder of carnitine cycle and carnitine transport caused by mutation in CPT1A" EXACT [MONDO:design_pattern] synonym: "hepatic carnitine palmitoyl transferase 1 deficiency" EXACT [DOID:0090129, Orphanet:156] synonym: "hepatic carnitine palmitoyl transferase I deficiency" EXACT [DOID:0090129, Orphanet:156] synonym: "hepatic carnitine palmitoyltransferase 1 deficiency" RELATED [GARD:0001120] synonym: "hepatic CPT deficiency type I" EXACT [DOID:0090129] synonym: "hepatic CPT1" RELATED [GARD:0001120] synonym: "L-CPT 1 deficiency" RELATED [GARD:0001120] synonym: "L-CPT1 deficiency" EXACT [DOID:0090129, GARD:0001120, Orphanet:156] synonym: "L-CPTI deficiency" EXACT [GARD:0001120, Orphanet:156] xref: DOID:0090129 {source="MONDO:equivalentTo"} xref: HGNC:2328 {source="GARD:0001120"} xref: ICD9:277.85 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535588 {source="MONDO:equivalentTo"} xref: NCIT:C98871 {source="MONDO:equivalentTo"} xref: OMIM:255120 {source="Orphanet:156/e", source="MONDO:equivalentTo", source="DOID:0090129", source="Orphanet:156"} xref: Orphanet:156 {source="OMIM:255120", source="MONDO:equivalentTo", source="DOID:0090129", source="GARD:0001120"} xref: SCTID:238001003 {source="MONDO:equivalentTo"} xref: UMLS:C1829703 {source="OMIM:255120", source="MONDO:equivalentTo", source="NCIT:C98871", source="GARD:0001120", source="Orphanet:156"} is_a: MONDO:0017716 {source="MONDO:Redundant", source="Orphanet:156"} ! disorder of carnitine cycle and carnitine transport is_a: MONDO:0037858 ! inherited fatty acid metabolism disorder property_value: exactMatch DOID:0090129 property_value: exactMatch http://identifiers.org/mesh/C535588 property_value: exactMatch http://identifiers.org/snomedct/238001003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1829703 property_value: exactMatch https://omim.org/entry/255120 property_value: exactMatch NCIT:C98871 property_value: exactMatch Orphanet:156 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1120/carnitine-palmitoyl-transferase-1-deficiency xsd:anyURI {source="GARD:0001120"} [Term] id: MONDO:0009706 name: hereditary myopathy with lactic acidosis due to ISCU deficiency def: "Aconitase deficiency is characterized by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase." [Orphanet:43115] subset: ordo_disease {source="Orphanet:43115"} synonym: "aconitase deficiency" EXACT [Orphanet:43115] synonym: "HML" RELATED ABBREVIATION [MONDO:Lexical, OMIM:255125] synonym: "iron-sulfur cluster deficiency myopathy" EXACT [Orphanet:43115] synonym: "ISCU myopathy" EXACT [Orphanet:43115] synonym: "myoglobinuria due to abnormal glycolysis" RELATED [OMIM:255125] synonym: "myopathy with deficiency of succinate dehydrogenase and aconitase" RELATED [OMIM:255125] synonym: "myopathy with exercise intolerance, Swedish type" EXACT [OMIM:255125, Orphanet:43115] synonym: "myopathy with lactic acidosis, hereditary" RELATED [MONDO:Lexical, OMIM:255125] xref: ICD9:259.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C564972 {source="MONDO:equivalentTo"} xref: OMIM:255125 {source="Orphanet:43115", source="MONDO:equivalentTo", source="Orphanet:43115/e"} xref: Orphanet:43115 {source="MONDO:equivalentTo", source="OMIM:255125"} xref: SCTID:699268002 {source="MONDO:equivalentTo"} xref: UMLS:C1850718 {source="Orphanet:43115", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:255125"} is_a: MONDO:0020123 {source="Orphanet:43115"} ! metabolic myopathy is_a: MONDO:0044970 ! mitochondrial disease property_value: exactMatch http://identifiers.org/mesh/C564972 property_value: exactMatch http://identifiers.org/snomedct/699268002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850718 property_value: exactMatch https://omim.org/entry/255125 property_value: exactMatch Orphanet:43115 [Term] id: MONDO:0009709 name: myopathy, centronuclear, 2 def: "Any centronuclear myopathy in which the cause of the disease is a mutation in the BIN1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "BIN1 centronuclear myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "centronuclear myopathy 2" EXACT [OMIM:255200, OMIM:genemap2] synonym: "centronuclear myopathy caused by mutation in BIN1" EXACT [MONDO:design_pattern] synonym: "CNM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:255200] synonym: "myopathy, centronuclear, 2" EXACT [MONDO:Lexical, OMIM:255200] synonym: "myopathy, centronuclear, autosomal recessive" RELATED [OMIM:255200] synonym: "myopathy, centronuclear, type 2" EXACT [MONDORULE:1, OMIM:255200] synonym: "myotubular myopathy, autosomal recessive" RELATED [OMIM:255200] xref: DOID:0111220 {source="MONDO:equivalentTo"} xref: MESH:C562934 {source="MONDO:equivalentTo"} xref: OMIM:255200 {source="MONDO:equivalentTo"} is_a: MONDO:0015705 {source="Orphanet:169186/btnt"} ! autosomal recessive centronuclear myopathy property_value: exactMatch DOID:0111220 property_value: exactMatch http://identifiers.org/mesh/C562934 property_value: exactMatch https://omim.org/entry/255200 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009710 name: Thomsen and Becker disease def: "A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia)." [Orphanet:614] subset: ordo_disease {source="Orphanet:614"} synonym: "Batten-Turner congenital myopathy" RELATED [OMIM:255300] synonym: "myopathy, congenital" RELATED [OMIM:255300] synonym: "myotonia congenita" EXACT [Orphanet:614] xref: DOID:2106 {source="MONDO:equivalentTo"} xref: ICD10CM:G71.12 {source="MONDO:equivalentTo"} xref: ICD9:359.22 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2106"} xref: MedDRA:10028655 {source="Orphanet:614", source="Orphanet:614/e"} xref: MedDRA:10043461 {source="Orphanet:614", source="Orphanet:614/e"} xref: MESH:D009224 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo", source="DOID:2106"} xref: NCIT:C84912 {source="MONDO:equivalentTo", source="DOID:2106"} xref: Orphanet:614 {source="MONDO:equivalentTo", source="DOID:2106"} xref: SCTID:726051002 {source="MONDO:equivalentTo"} xref: UMLS:C0027127 {source="Orphanet:614", source="NCIT:C84912", source="MONDO:equivalentTo", source="DOID:2106", source="OMIM:255300", source="Orphanet:614/e"} is_a: EFO:1001899 {source="Orphanet:614"} ! muscular channelopathy property_value: closeMatch http://identifiers.org/meddra/10028655 property_value: closeMatch http://identifiers.org/meddra/10043461 property_value: exactMatch DOID:2106 property_value: exactMatch http://identifiers.org/mesh/D009224 property_value: exactMatch http://identifiers.org/snomedct/726051002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027127 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G71.12 property_value: exactMatch NCIT:C84912 property_value: exactMatch Orphanet:614 property_value: excluded_subClassOf MONDO:0016121 {source="Orphanet:614"} property_value: excluded_subClassOf MONDO:0019952 {source="DC-OMIM:255300"} [Term] id: MONDO:0009711 name: congenital fiber-type disproportion myopathy def: "A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 or SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur." [NCIT:C120046] subset: ordo_disease {source="Orphanet:2020"} synonym: "CFTDM" EXACT ABBREVIATION [Orphanet:2020] synonym: "congenital fiber type disproportion" RELATED [GARD:0006161] synonym: "congenital fiber-type disproportion" EXACT [NCIT:C120046] synonym: "congenital fibre type disproportion" RELATED OMO:0003005 [] synonym: "congenital myopathy with fiber type disproportion" EXACT [https://orcid.org/0000-0002-8169-9049, OMOP:4347282, SCTID:240084007] synonym: "congenital myopathy with fibre type disproportion" EXACT OMO:0003005 [] synonym: "myopathy, congenital with fiber-type disproportion" RELATED [GARD:0006161] xref: DOID:0080102 {source="MONDO:equivalentTo"} xref: NCIT:C120046 {source="MONDO:equivalentTo"} xref: Orphanet:2020 {source="MONDO:equivalentTo", source="OMIM:255310"} xref: UMLS:C0546264 {source="Orphanet:2020/e", source="MONDO:equivalentTo", source="OMIM:255310", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C120046", source="Orphanet:2020"} is_a: MONDO:0002921 {source="OMIM:255310"} ! congenital structural myopathy is_a: MONDO:0100108 {source="https://clinicalgenome.org/docs/clingen-cmp-ep-acgs-collaboration/"} ! TPM3-related myopathy is_a: MONDO:0100150 {source="https://clinicalgenome.org/affiliation/40031/"} ! RYR1-related myopathy is_a: MONDO:0100196 {source="PMID:28881016", source="https://clinicalgenome.org/affiliation/40031/", source="https://github.com/monarch-initiative/mondo/issues/1922"} ! TPM2-related myopathy property_value: exactMatch DOID:0080102 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0546264 property_value: exactMatch NCIT:C120046 property_value: exactMatch Orphanet:2020 property_value: excluded_subClassOf MONDO:0016193 {source="Orphanet:2020"} property_value: excluded_subClassOf MONDO:0016197 {source="Orphanet:2020"} property_value: excluded_subClassOf MONDO:0017303 {source="Orphanet:2020"} property_value: excluded_subClassOf MONDO:0100084 {source="https://github.com/monarch-initiative/mondo/issues/900"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6035 xsd:anyURI [Term] id: MONDO:0009712 name: congenital multicore myopathy with external ophthalmoplegia def: "An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as \"minicores\" on ATPase staining as a result of focal defects in oxidative activity." [NCIT:C150608] subset: ordo_clinical_subtype {source="Orphanet:98905"} synonym: "minicore myopathy" RELATED [OMIM:255320] synonym: "minicore myopathy with external ophthalmoplegia" RELATED [OMIM:255320] synonym: "minicore myopathy, antenatal onset, with arthrogryposis" EXACT [OMIM:255320] synonym: "multicore myopathy" RELATED [OMIM:255320] synonym: "multicore myopathy with external ophthalmoplegia" RELATED [GARD:0010316] synonym: "multiminicore disease with external ophthalmoplegia" RELATED [OMIM:255320] synonym: "multiminicore myopathy multicore myopathy with external ophthalmoplegia" RELATED [OMIM:255320] xref: NCIT:C150608 {source="MONDO:equivalentTo"} xref: OMIM:255320 {source="Orphanet:98905/e", source="MONDO:equivalentTo", source="Orphanet:98905"} xref: Orphanet:98905 {source="MONDO:equivalentTo", source="OMIM:255320"} xref: UMLS:C1850674 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:255320", source="Orphanet:98905"} is_a: MONDO:0018948 {source="Orphanet:98905"} ! multiminicore myopathy is_a: MONDO:0100150 {source="https://clinicalgenome.org/affiliation/40031/"} ! RYR1-related myopathy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850674 property_value: exactMatch https://omim.org/entry/255320 property_value: exactMatch NCIT:C150608 property_value: exactMatch Orphanet:98905 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0009714 name: myosclerosis def: "Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries." [Orphanet:289380] subset: ordo_disease {source="Orphanet:289380"} synonym: "congenital myosclerosis, LC6wenthal type" EXACT [Orphanet:289380] synonym: "congenital myosclerosis, Löwenthal type" EXACT [Orphanet:289380] synonym: "myopathy, myosclerotic" RELATED [OMIM:255600] synonym: "myosclerosis, autosomal recessive" RELATED [OMIM:255600] synonym: "myosclerosis, congenital" EXACT [OMIM:255600, OMIM:genemap2] synonym: "myosclerosis, congenital, of Lowenthal" RELATED [OMIM:255600] xref: MedDRA:10064584 {source="Orphanet:289380/e", source="Orphanet:289380"} xref: MESH:C564968 {source="MONDO:equivalentTo"} xref: OMIM:255600 {source="Orphanet:289380/e", source="MONDO:equivalentTo", source="Orphanet:289380"} xref: Orphanet:289380 {source="MONDO:equivalentTo", source="OMIM:255600"} xref: SCTID:763895001 {source="MONDO:equivalentTo"} is_a: MONDO:0100225 {source="PMID:21691338", source="https://clinicalgenome.org/affiliation/40031/"} ! collagen 6-related myopathy property_value: closeMatch http://identifiers.org/meddra/10064584 property_value: exactMatch http://identifiers.org/mesh/C564968 property_value: exactMatch http://identifiers.org/snomedct/763895001 property_value: exactMatch https://omim.org/entry/255600 property_value: exactMatch Orphanet:289380 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009716 name: Richieri Costa-da Silva syndrome subset: gard_rare {source="GARD:0004709"} subset: ordo_malformation_syndrome {source="Orphanet:3101"} synonym: "myotonia with skeletal abnormalities and intellectual disability" RELATED [OMIM:255710] synonym: "myotonia with skeletal abnormalities and mental retardation" RELATED DEPRECATED [OMIM:255710] synonym: "myotonia-intellectual disability-skeletal anomalies syndrome" EXACT [Orphanet:3101] synonym: "Richieri Costa Da Silva syndrome" RELATED [GARD:0004709] xref: MESH:C535675 {source="Orphanet:3101", source="MONDO:equivalentTo", source="Orphanet:3101/e"} xref: OMIM:255710 {source="Orphanet:3101", source="MONDO:equivalentTo", source="Orphanet:3101/e"} xref: Orphanet:3101 {source="MONDO:equivalentTo", source="OMIM:255710"} xref: UMLS:C2930978 {source="Orphanet:3101", source="MONDO:equivalentTo", source="Orphanet:3101/e"} is_a: MONDO:0015161 {source="Orphanet:3101"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0016761 {source="Orphanet:3101"} ! spondyloepiphyseal dysplasia property_value: exactMatch http://identifiers.org/mesh/C535675 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930978 property_value: exactMatch https://omim.org/entry/255710 property_value: exactMatch Orphanet:3101 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4709/richieri-costa-da-silva-syndrome xsd:anyURI {source="GARD:0004709"} [Term] id: MONDO:0009717 name: Schwartz-Jampel syndrome def: "A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia)." [Orphanet:800] subset: ordo_disease {source="Orphanet:800"} subset: prototype_pattern synonym: "Aberfeld syndrome" EXACT [Orphanet:800] synonym: "burton skeletal dysplasia" EXACT [Orphanet:800] synonym: "burton syndrome" EXACT [Orphanet:800] synonym: "Catel-Hempel syndrome" EXACT [Orphanet:800] synonym: "Catel-Hempel type dysostosis enchondralis metaepiphysaria" EXACT [Orphanet:800] synonym: "dysostosis enchondralis metaepiphysaria, Catel-Hempel type" EXACT [Orphanet:800] synonym: "myotonic chondrodystrophy" EXACT [DOID:0090005, Orphanet:800] synonym: "myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities" RELATED [GARD:0000250] synonym: "myotonic myopathy, dwarfism, chondrodystrophy, and ocular and Facial abnormalities" RELATED [OMIM:255800] synonym: "myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies" EXACT [DOID:0090005, Orphanet:800] synonym: "Osteochondromuscular dystrophy" EXACT [Orphanet:800] synonym: "osteochondromuscular dystrophy" EXACT [DOID:0090005] synonym: "Schwartz Jampel Aberfeld syndrome" RELATED [GARD:0000250] synonym: "Schwartz Jampel syndrome" RELATED [GARD:0000250] synonym: "Schwartz-Jampel syndrome" EXACT [Orphanet:800] synonym: "Schwartz-Jampel-Aberfeld syndrome" EXACT [DOID:0090005, OMIM:255800, Orphanet:800] synonym: "SJS" EXACT ABBREVIATION [Orphanet:800] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C35008 {source="MONDO:equivalentTo"} xref: Orphanet:800 {source="MONDO:equivalentTo", source="DOID:0090005", source="OMIM:255800"} xref: SCTID:29145002 {source="MONDO:equivalentTo"} xref: UMLS:C0036391 {source="Orphanet:800", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:800/e", source="OMIM:255800", source="NCIT:C35008"} is_a: EFO:1000017 {source="DOID:0090005", source="MONDO:Redundant", source="Orphanet:800"} ! autosomal recessive disease is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0016121 {source="Orphanet:800"} ! congenital myotonia is_a: MONDO:0016151 {source="Orphanet:800"} ! qualitative or quantitative defects of perlecan is_a: MONDO:0016761 {source="Orphanet:800"} ! spondyloepiphyseal dysplasia is_a: MONDO:0019689 {source="Orphanet:800"} ! perlecan-related bone disorder is_a: MONDO:0700223 ! hereditary skeletal muscle disorder property_value: exactMatch http://identifiers.org/snomedct/29145002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036391 property_value: exactMatch NCIT:C35008 property_value: exactMatch Orphanet:800 property_value: excluded_subClassOf MONDO:0016106 {source="Orphanet:800"} [Term] id: MONDO:0009719 name: familial atrial myxoma subset: gard_rare {source="GARD:0000139"} subset: ordo_disease {source="Orphanet:615"} synonym: "atrial Myxoma, familial" RELATED [OMIM:255960] synonym: "intracardiac myxoma" RELATED [GARD:0000139] synonym: "MYXOMA, intracardiac" RELATED [OMIM:255960] xref: ICD10CM:D15.1 {source="MONDO:relatedTo", source="Orphanet:615", source="Orphanet:615/attributed", source="Orphanet:615/ntbt"} xref: MESH:C538262 {source="MONDO:equivalentTo", source="Orphanet:615", source="Orphanet:615/e"} xref: OMIM:255960 {source="MONDO:equivalentTo", source="Orphanet:615", source="Orphanet:615/e"} xref: Orphanet:615 {source="MONDO:equivalentTo", source="OMIM:255960"} xref: SCTID:233855002 {source="MONDO:equivalentTo"} xref: UMLS:C1850635 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:615", source="OMIM:255960", source="Orphanet:615/e"} is_a: MONDO:0017129 {source="Orphanet:615"} ! inherited cardiac tumor property_value: exactMatch http://identifiers.org/mesh/C538262 property_value: exactMatch http://identifiers.org/snomedct/233855002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850635 property_value: exactMatch https://omim.org/entry/255960 property_value: exactMatch Orphanet:615 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/139/atrial-myxoma-familial xsd:anyURI {source="GARD:0000139"} [Term] id: MONDO:0009720 name: Keipert syndrome def: "A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis." [Orphanet:2662] subset: ordo_malformation_syndrome {source="Orphanet:2662"} synonym: "Keipert syndrome" EXACT [OMIM:255980, OMIM:301026] synonym: "Keipert syndrome, X-linked recessive" EXACT [OMIM:301026, OMIM:genemap2] synonym: "KPTS" EXACT ABBREVIATION [OMIM:301026] synonym: "nasodigitoacoustic syndrome" EXACT [OMIM:255980, OMIM:301026, Orphanet:2662] synonym: "nasodigitoacoustic syndrome, formerly" EXACT [OMIM:301026] xref: DOID:0111842 {source="MONDO:equivalentTo"} xref: MESH:C538337 {source="MONDO:equivalentTo"} xref: NCIT:C186306 {source="MONDO:equivalentTo"} xref: OMIM:255980 {source="Orphanet:2662", source="MONDO:equivalentObsolete", source="Orphanet:2662/e"} xref: OMIM:301026 {source="MONDO:equivalentTo"} xref: Orphanet:2662 {source="MONDO:equivalentTo", source="OMIM:301026", source="OMIM:255980"} xref: SCTID:763774001 {source="MONDO:equivalentTo"} xref: UMLS:C1850627 {source="Orphanet:2662", source="MONDO:equivalentTo", source="OMIM:301026", source="MONDO:ncbi_mim2gene_medline", source="OMIM:255980", source="Orphanet:2662/e"} is_a: MONDO:0015161 {source="Orphanet:2662"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch DOID:0111842 property_value: exactMatch http://identifiers.org/mesh/C538337 property_value: exactMatch http://identifiers.org/snomedct/763774001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850627 property_value: exactMatch https://omim.org/entry/301026 property_value: exactMatch NCIT:C186306 property_value: exactMatch Orphanet:2662 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009721 name: Nathalie syndrome def: "Nathalie syndrome is characterized by deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics, and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother." [Orphanet:2663] subset: gard_rare {source="GARD:0003929"} subset: ordo_malformation_syndrome {source="Orphanet:2663"} synonym: "deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics" RELATED [GARD:0003929] synonym: "deafness-cataract-skeletal anomalies syndrome" EXACT [Orphanet:2663] synonym: "deafness-cataracts-skeletal anomalies syndrome" EXACT [Orphanet:2663] synonym: "Nathalie syndrome" EXACT [OMIM:255990] synonym: "sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome" EXACT [Orphanet:2663] xref: MESH:C538342 {source="Orphanet:2663", source="MONDO:equivalentTo", source="Orphanet:2663/e"} xref: OMIM:255990 {source="Orphanet:2663", source="MONDO:equivalentTo", source="Orphanet:2663/e"} xref: Orphanet:2663 {source="OMIM:255990", source="MONDO:equivalentTo"} xref: SCTID:716170005 {source="MONDO:equivalentTo"} xref: UMLS:C1850626 {source="Orphanet:2663", source="OMIM:255990", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2663/e"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: exactMatch http://identifiers.org/mesh/C538342 property_value: exactMatch http://identifiers.org/snomedct/716170005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850626 property_value: exactMatch https://omim.org/entry/255990 property_value: exactMatch Orphanet:2663 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3929/nathalie-syndrome xsd:anyURI {source="GARD:0003929"} [Term] id: MONDO:0009722 name: Bailey-Bloch congenital myopathy def: "Bailey-Bloch congenital myopathy is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia." [Orphanet:168572] subset: ordo_malformation_syndrome {source="Orphanet:168572"} synonym: "Bailey-Bloch congenital myopathy" EXACT [] synonym: "congenital myopathy - cleft palate - malignant hyperthermia" RELATED [GARD:0008432] synonym: "congenital myopathy cleft palate and malignant hyperthermia" RELATED [GARD:0008432] synonym: "congenital myopathy-cleft palate-malignant hyperthermia syndrome" EXACT [Orphanet:168572] synonym: "myopathy, congenital, baily-bloch" EXACT [OMIM:255995, OMIM:genemap2] synonym: "myopathy, congenital, with cleft palate and malignant hyperthermia" RELATED [OMIM:255995] synonym: "NAM" RELATED DEPRECATED [MONDO:Lexical, OMIM:255995] synonym: "Native American myopathy" EXACT DEPRECATED [MONDO:Lexical, OMIM:255995] synonym: "STAC3 disorder" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK542808/] xref: DOID:0060346 {source="MONDO:equivalentTo"} xref: MESH:C538343 {source="Orphanet:168572/e", source="MONDO:equivalentTo", source="DOID:0060346", source="Orphanet:168572"} xref: OMIM:255995 {source="Orphanet:168572/e", source="MONDO:equivalentTo", source="DOID:0060346", source="Orphanet:168572"} xref: Orphanet:168572 {source="MONDO:equivalentTo", source="DOID:0060346", source="OMIM:255995"} xref: SCTID:723439002 {source="MONDO:equivalentTo"} xref: UMLS:C1850625 {source="Orphanet:168572/e", source="MONDO:equivalentTo", source="DOID:0060346", source="MONDO:ncbi_mim2gene_medline", source="OMIM:255995", source="Orphanet:168572"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0019952 {source="OMIM:255310", source="Orphanet:168572"} ! congenital myopathy property_value: exactMatch DOID:0060346 property_value: exactMatch http://identifiers.org/mesh/C538343 property_value: exactMatch http://identifiers.org/snomedct/723439002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850625 property_value: exactMatch https://omim.org/entry/255995 property_value: exactMatch Orphanet:168572 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1377 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009723 name: Leigh syndrome def: "A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions." [Orphanet:506] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:506"} synonym: "infantile necrotizing encephalomyelopathy" EXACT [DOID:3652] synonym: "infantile subacute necrotizing encephalopathy" EXACT [Orphanet:506] synonym: "juvenile subacute necrotizing encephalomyelopathy" EXACT [DOID:3652] synonym: "Leigh disease" EXACT [Orphanet:506] synonym: "Leigh syndrome" EXACT [DOID:3652, MONDO:Lexical, OMIM:256000] synonym: "Leigh syndrome due to mitochondrial Complex 1 deficiency" RELATED [OMIM:256000] synonym: "Leigh syndrome due to mitochondrial Complex 2 deficiency" RELATED [OMIM:256000] synonym: "Leigh syndrome due to mitochondrial Complex 3 deficiency" RELATED [OMIM:256000] synonym: "Leigh syndrome due to mitochondrial Complex 4 deficiency" RELATED [OMIM:256000] synonym: "Leigh syndrome due to mitochondrial Complex 5 deficiency" RELATED [OMIM:256000] synonym: "Leigh syndrome spectrum" EXACT [https://orcid.org/0000-0002-5478-8046, https://www.clinicalgenome.org/affiliation/40027/] synonym: "Leigh's disease" EXACT [NCIT:C84814] synonym: "Leigh's necrotizing encephalopathy" RELATED [GARD:0006877] synonym: "LS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:256000] synonym: "LSS" EXACT ABBREVIATION [https://orcid.org/0000-0002-5478-8046, https://www.clinicalgenome.org/affiliation/40027/] synonym: "necrotizing encephalopathy, infantile Subacute, of Leigh" RELATED [GARD:0006877, OMIM:256000] synonym: "SNE" RELATED ABBREVIATION [GARD:0006877] synonym: "subacute necrotizing encephalomyelopathy" RELATED [DOID:3652] synonym: "subacute necrotizing encephalopathy" RELATED [GARD:0006877] xref: DOID:3652 {source="MONDO:equivalentTo"} xref: ICD9:330.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10062950 {source="Orphanet:506", source="Orphanet:506/e"} xref: MESH:D007888 {source="DOID:3652", source="MONDO:equivalentTo", source="Orphanet:506", source="Orphanet:506/e"} xref: NCIT:C84814 {source="DOID:3652", source="MONDO:equivalentTo"} xref: OMIM:256000 {source="DOID:3652", source="MONDO:equivalentTo", source="Orphanet:506", source="Orphanet:506/e"} xref: Orphanet:506 {source="DOID:3652", source="OMIM:256000", source="MONDO:equivalentTo"} xref: SCTID:29570005 {source="DOID:3652", source="MONDO:equivalentTo"} xref: UMLS:C0023264 {source="DOID:3652", source="NCIT:C84814", source="OMIM:256000", source="MONDO:equivalentTo", source="Orphanet:506", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:506/e"} is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0020127 ! hereditary peripheral neuropathy property_value: closeMatch http://identifiers.org/meddra/10062950 property_value: exactMatch DOID:3652 property_value: exactMatch http://identifiers.org/mesh/D007888 property_value: exactMatch http://identifiers.org/snomedct/29570005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023264 property_value: exactMatch https://omim.org/entry/256000 property_value: exactMatch NCIT:C84814 property_value: exactMatch Orphanet:506 property_value: excluded_subClassOf MONDO:0015368 property_value: excluded_subClassOf MONDO:0020257 {source="Orphanet:506"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6090 xsd:anyURI [Term] id: MONDO:0009724 name: nail-patella-like renal disease def: "A severe nephropathy characterized by renal dysfunction, proteinuria, edema and microscopic haematuria. It has been described in three brothers, two of which died from end-stage renal insufficiency." [https://orcid.org/0000-0001-5208-3432, Orphanet:2613] subset: ordo_disease {source="Orphanet:2613"} synonym: "focal segmental glomerulosclerosis 10" EXACT [OMIM:256020, OMIM:genemap2] synonym: "glomerular basement Membrane disease, nail-patella syndrome type" RELATED [OMIM:256020] synonym: "nail patella like renal disease" RELATED [GARD:0000321] synonym: "nail-patella-like renal disease" EXACT [OMIM:256020] synonym: "Salcedo syndrome" EXACT [Orphanet:2613] xref: ICD9:756.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537228 {source="MONDO:equivalentTo"} xref: OMIM:256020 {source="MONDO:equivalentTo", source="Orphanet:2613", source="Orphanet:2613/e"} xref: Orphanet:2613 {source="OMIM:256020", source="MONDO:equivalentTo"} xref: SCTID:236527004 {source="MONDO:equivalentTo"} xref: UMLS:C0403548 {source="OMIM:256020", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2613", source="Orphanet:2613/e"} is_a: EFO:0003086 {source="https://orcid.org/0000-0001-5208-3432"} ! kidney disease property_value: exactMatch http://identifiers.org/mesh/C537228 property_value: exactMatch http://identifiers.org/snomedct/236527004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0403548 property_value: exactMatch https://omim.org/entry/256020 property_value: exactMatch Orphanet:2613 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009726 name: proteosome-associated autoinflammatory syndrome subset: gard_rare {source="GARD:0010988"} subset: ordo_clinical_subtype {source="Orphanet:325004", source="Orphanet:324999", source="Orphanet:2615"} subset: ordo_disease {source="Orphanet:324977"} synonym: "ALDD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:256040] synonym: "ALDD syndrome" EXACT [Orphanet:324977] synonym: "amyotrophy fat tissue anomaly" RELATED [GARD:0003916] synonym: "amyotrophy-fat tissue anomaly syndrome" RELATED [Orphanet:2615] synonym: "autoinflammation, lipodystrophy, and dermatosis syndrome" EXACT [MONDO:Lexical, OMIM:256040] synonym: "autoinflammation-lipodystrophy-dermatosis syndrome" EXACT [Orphanet:324977] synonym: "CANDLE syndrome" EXACT [GARD:0010811, MONDO:0017960] synonym: "chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature" EXACT [GARD:0010811] synonym: "chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome" EXACT [OMIM:256040] synonym: "chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome" EXACT [GARD:0010811, Orphanet:325004] synonym: "JMP syndrome" EXACT [MONDO:0017959] synonym: "Joint contractures - muscle atrophy - microcytic anaemia - panniculitis-induced lipodystrophy" EXACT OMO:0003005 [] synonym: "Joint contractures - muscle atrophy - microcytic anemia - panniculitis-induced lipodystrophy" EXACT [GARD:0010988] synonym: "Joint contractures, muscular atrophy, microcytic Anemia, and panniculitis-induced lipodystrophy" EXACT [OMIM:256040] synonym: "joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy" EXACT [DOID:0050553] synonym: "Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome" EXACT [Orphanet:324999] synonym: "Nakajo Nishimura syndrome" EXACT [GARD:0003916] synonym: "Nakajo syndrome" EXACT [GARD:0003917] synonym: "Nakajo-Nishimura syndrome" EXACT [MONDO:0016849, OMIM:256040] synonym: "NNS" EXACT ABBREVIATION [Orphanet:2615] synonym: "nodular erythema digital changes" RELATED [GARD:0003917] synonym: "PRAAS" EXACT ABBREVIATION [Orphanet:324977] synonym: "proteasome disability syndrome" EXACT [Orphanet:324977] synonym: "proteasome-associated autoinflammatory syndrome" EXACT [Orphanet:324977] synonym: "secondary hypertrophic osteoperiostosis with pernio" EXACT [Orphanet:2615] xref: DOID:0050553 {source="MONDO:equivalentTo"} xref: ICD9:709.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538334 {source="MONDO:equivalentTo"} xref: OMIMPS:256040 {source="MONDO:equivalentTo"} xref: Orphanet:2615 {source="OMIM:256040", source="MONDO:equivalentObsolete"} xref: Orphanet:324977 {source="OMIM:256040", source="MONDO:equivalentTo"} xref: Orphanet:324999 {source="OMIM:256040", source="MONDO:equivalentObsolete"} xref: Orphanet:325004 {source="OMIM:256040", source="MONDO:equivalentObsolete", source="GARD:0010811"} xref: SCTID:702449004 {source="MONDO:equivalentTo"} xref: UMLS:CN202195 {source="MONDO:equivalentTo"} xref: UMLS:CN204109 {source="MONDO:equivalentTo"} is_a: EFO:1000017 {source="DOID:0050553", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015135 ! primary immunodeficiency due to a genetic defect in innate immunity is_a: MONDO:0018782 {source="Orphanet:324977"} ! type 1 interferonopathy is_a: MONDO:0023603 ! hereditary disorder of connective tissue property_value: exactMatch DOID:0050553 property_value: exactMatch http://identifiers.org/mesh/C538334 property_value: exactMatch http://identifiers.org/snomedct/702449004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202195 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204109 property_value: exactMatch https://omim.org/phenotypicSeries/PS256040 property_value: exactMatch Orphanet:324977 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10811/chronic-atypical-neutrophilic-dermatosis-with-lipodystrophy-and-elevated-temperature xsd:anyURI {source="GARD:0010811"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10988/jmp-syndrome xsd:anyURI {source="GARD:0010988"} [Term] id: MONDO:0009727 name: atelosteogenesis type II def: "A lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." [https://orcid.org/0000-0001-5208-3432, Orphanet:56304] subset: ordo_malformation_syndrome {source="Orphanet:56304"} synonym: "AO2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:256050, Orphanet:56304] synonym: "AOII" EXACT ABBREVIATION [OMIM:256050, Orphanet:56304] synonym: "atelosteogenesis II" RELATED [GARD:0008329] synonym: "atelosteogenesis type 2" EXACT [Orphanet:56304] synonym: "atelosteogenesis type II" EXACT [] synonym: "atelosteogenesis, type 2" RELATED [OMIM:256050] synonym: "atelosteogenesis, type II" RELATED [MONDO:Lexical, OMIM:256050] synonym: "De 50A Chapelle dysplasia" RELATED [OMIM:256050] synonym: "De la Chapelle dysplasia" RELATED [Orphanet:56304] synonym: "neonatal osseous dysplasia 1" RELATED [OMIM:256050] synonym: "neonatal osseous dysplasia type 1" EXACT [Orphanet:56304] xref: ICD10CM:Q77.5 {source="Orphanet:56304/attributed", source="Orphanet:56304/ntbt", source="Orphanet:56304", source="MONDO:directSiblingOf"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535395 {source="Orphanet:56304", source="MONDO:equivalentTo", source="Orphanet:56304/e"} xref: OMIM:256050 {source="Orphanet:56304", source="MONDO:equivalentTo", source="Orphanet:56304/e"} xref: Orphanet:56304 {source="MONDO:equivalentTo", source="OMIM:256050"} xref: SCTID:254055004 {source="MONDO:equivalentTo"} xref: UMLS:C1850554 {source="Orphanet:56304", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:256050"} xref: UMLS:C1850555 {source="Orphanet:56304", source="MONDO:equivalentTo", source="OMIM:256050"} is_a: MONDO:0000389 {source="DC-OMIM:256050", source="OMIM:256050"} ! atelosteogenesis is_a: MONDO:0018187 ! hereditary syndromic Pierre Robin syndrome is_a: MONDO:0018751 ! hereditary otorhinolaryngologic disease is_a: MONDO:0019688 {source="Orphanet:56304", source="PMID:31633310"} ! sulfation-related bone disorder is_a: MONDO:0019697 {source="Orphanet:56304"} ! mesomelic and rhizo-mesomelic dysplasia property_value: exactMatch http://identifiers.org/mesh/C535395 property_value: exactMatch http://identifiers.org/snomedct/254055004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850554 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850555 property_value: exactMatch https://omim.org/entry/256050 property_value: exactMatch Orphanet:56304 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:56304"} property_value: excluded_subClassOf MONDO:0015159 {source="Orphanet:56304"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0009728 name: nephronophthisis 1 def: "Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure." [NCIT:C74998] subset: ordo_clinical_subtype {source="Orphanet:93592"} synonym: "familial juvenile nephronophthisis" EXACT [NCIT:C74998] synonym: "juvenile nephronophthisis" EXACT [NCIT:C74998] synonym: "juvenile nephronophthisis 1" EXACT [DOID:0111112] synonym: "nephronophthisis (disease) caused by mutation in NPHP1" EXACT [] synonym: "nephronophthisis 1" EXACT [MONDO:Lexical, OMIM:256100] synonym: "nephronophthisis 1, juvenile" EXACT [OMIM:256100, OMIM:genemap2] synonym: "nephronophthisis type 1" EXACT [DOID:0111112, MONDORULE:1, OMIM:256100] synonym: "nephronophthisis, familial juvenile" RELATED [OMIM:256100] synonym: "NPH1" EXACT ABBREVIATION [DOID:0111112] synonym: "Nph1" RELATED [OMIM:256100] synonym: "NPHP1" EXACT ABBREVIATION [DOID:0111112, MONDO:Lexical, OMIM:256100] synonym: "NPHP1 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0111112 {source="MONDO:equivalentTo"} xref: MESH:C537699 {source="MONDO:equivalentTo"} xref: NCIT:C74998 {source="MONDO:equivalentTo"} xref: OMIM:256100 {source="MONDO:equivalentTo", source="DOID:0111112"} xref: Orphanet:93592 {source="MONDO:equivalentTo"} xref: SCTID:444830001 {source="MONDO:equivalentTo"} xref: UMLS:C1855681 {source="NCIT:C74998", source="Orphanet:93592", source="OMIM:256100", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:CN205459 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="NCIT:C74998"} ! syndromic disease is_a: MONDO:0019005 {source="DC-OMIM:256100", source="DOID:0111112", source="MONDO:Redundant", source="OMIM:256100", source="Orphanet:93592"} ! nephronophthisis is_a: MONDO:0022409 ! nephropathy-associated ciliopathy property_value: exactMatch DOID:0111112 property_value: exactMatch http://identifiers.org/mesh/C537699 property_value: exactMatch http://identifiers.org/snomedct/444830001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855681 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205459 property_value: exactMatch https://omim.org/entry/256100 property_value: exactMatch NCIT:C74998 property_value: exactMatch Orphanet:93592 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009729 name: nephropathy - deafness - hyperparathyroidism syndrome def: "Nephropathy-deafness-hyperparathyroidism syndrome is characterized by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous patents. The mode of inheritance appears to be autosomal recessive." [Orphanet:2668] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2668"} synonym: "Edwards Patton Dilly syndrome" RELATED [GARD:0003940] synonym: "Edwards-Patton-Dilly syndrome" EXACT [Orphanet:2668] synonym: "nephropathy - deafness - hyperparathyroidism" RELATED [GARD:0003940] synonym: "nephropathy, deafness, and hyperparathyroidism" RELATED [OMIM:256120] xref: MESH:C536401 {source="MONDO:equivalentTo", source="Orphanet:2668", source="Orphanet:2668/e"} xref: OMIM:256120 {source="GARD:0003940", source="MONDO:equivalentTo", source="Orphanet:2668", source="Orphanet:2668/e"} xref: Orphanet:2668 {source="GARD:0003940", source="OMIM:256120", source="MONDO:equivalentTo"} xref: SCTID:724093004 {source="MONDO:equivalentTo"} xref: UMLS:C1850553 {source="GARD:0003940", source="OMIM:256120", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2668", source="Orphanet:2668/e"} is_a: EFO:0000508 {source="Orphanet:2668/inferred"} ! genetic disorder is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDO:indirect"} ! syndromic disease property_value: exactMatch http://identifiers.org/mesh/C536401 property_value: exactMatch http://identifiers.org/snomedct/724093004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850553 property_value: exactMatch https://omim.org/entry/256120 property_value: exactMatch Orphanet:2668 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3940/nephropathy-deafness-and-hyperparathyroidism xsd:anyURI {source="GARD:0003940"} [Term] id: MONDO:0009731 name: nephrosis-deafness-urinary tract-digital malformations syndrome def: "Nephrosis-deafness-urinary tract-digital malformations syndrome is characterized by anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant." [Orphanet:2669] subset: ordo_malformation_syndrome {source="Orphanet:2669"} synonym: "Braun-Bayer syndrome" EXACT [Orphanet:2669] synonym: "nephrosis deafness urinary tract digital malformation" RELATED [GARD:0003943] synonym: "nephrosis with deafness and urinary tract and digital malformations" RELATED [OMIM:256200] xref: MESH:C536402 {source="MONDO:equivalentTo", source="Orphanet:2669", source="Orphanet:2669/e"} xref: OMIM:256200 {source="MONDO:equivalentTo", source="Orphanet:2669", source="Orphanet:2669/e"} xref: Orphanet:2669 {source="MONDO:equivalentTo", source="OMIM:256200"} xref: UMLS:C1850552 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:256200", source="Orphanet:2669", source="Orphanet:2669/e"} is_a: MONDO:0015161 {source="Orphanet:2669"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015620 {source="Orphanet:2669"} ! syndromic urogenital tract malformation property_value: exactMatch http://identifiers.org/mesh/C536402 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850552 property_value: exactMatch https://omim.org/entry/256200 property_value: exactMatch Orphanet:2669 [Term] id: MONDO:0009732 name: congenital nephrotic syndrome, Finnish type def: "Congenital nephrotic syndrome, Finnish type is characterized by protein loss beginning during fetal life." [Orphanet:839] subset: clingen subset: gard_rare {source="GARD:0001500"} subset: ordo_disease {source="Orphanet:839"} synonym: "CnF" RELATED [GARD:0001500] synonym: "congenital nephrotic syndrome - Finnish type" EXACT [NCIT:C122795] synonym: "congenital nephrotic syndrome 1" RELATED [GARD:0001500] synonym: "congenital nephrotic syndrome Finnish type" RELATED [GARD:0001500] synonym: "congenital nephrotic syndrome, Finnish type" EXACT [] synonym: "Finnish congenital nephrosis" EXACT [OMIM:256300, Orphanet:839] synonym: "nephrosis 1, congenital, Finnish type" RELATED [GARD:0001500] synonym: "nephrosis, congenital" RELATED [GARD:0001500] synonym: "nephrotic syndrome - NPHS1 associated" EXACT [NCIT:C122795] synonym: "nephrotic syndrome, congenital" RELATED [OMIM:256300] synonym: "nephrotic syndrome, type 1" RELATED [MONDO:Lexical, OMIM:256300] synonym: "NPHS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:256300] xref: DOID:0080390 {source="MONDO:equivalentTo"} xref: MedDRA:10060740 {source="Orphanet:839/e", source="Orphanet:839"} xref: NCIT:C122795 {source="MONDO:equivalentTo"} xref: OMIM:256300 {source="Orphanet:839/e", source="MONDO:equivalentTo", source="Orphanet:839"} xref: Orphanet:839 {source="MONDO:equivalentTo", source="OMIM:256300"} xref: SCTID:197601003 {source="MONDO:equivalentTo"} xref: UMLS:C0403399 {source="Orphanet:839/e", source="MONDO:equivalentTo", source="OMIM:256300", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C122795", source="Orphanet:839"} is_a: MONDO:0002350 {source="OMIM:256300"} ! familial nephrotic syndrome property_value: closeMatch http://identifiers.org/meddra/10060740 property_value: exactMatch DOID:0080390 property_value: exactMatch http://identifiers.org/snomedct/197601003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0403399 property_value: exactMatch https://omim.org/entry/256300 property_value: exactMatch NCIT:C122795 property_value: exactMatch Orphanet:839 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1500/congenital-nephrotic-syndrome-finnish-type xsd:anyURI {source="GARD:0001500"} [Term] id: MONDO:0009734 name: hyperinsulinemic hypoglycemia, familial, 1 def: "Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the ABCC8 gene." [MONDO:patterns/disease_series_by_gene] synonym: "ABCC8 hyperinsulinemic hypoglycemia (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "HHF1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:256450] synonym: "hyperinsulinemic hypoglycemia (disease) caused by mutation in ABCC8" EXACT [] synonym: "hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia" RELATED [OMIM:256450] synonym: "hyperinsulinemic hypoglycemia due to SUR1 deficiency" EXACT [MONDO:cjm] synonym: "hyperinsulinemic hypoglycemia, familial, 1" EXACT [MONDO:Lexical, OMIM:256450] synonym: "hyperinsulinemic hypoglycemia, familial, type 1" EXACT [MONDORULE:1, OMIM:256450] synonym: "hyperinsulinism, congenital" RELATED [OMIM:256450] synonym: "hyperinsulinism, familial, with pancreatic Nesidioblastosis" RELATED [OMIM:256450] synonym: "hypoglycemia, hyperinsulinemic, of infancy" RELATED [OMIM:256450] synonym: "Nesidioblastosis of pancreas" RELATED [OMIM:256450] synonym: "persistent hyperinsulinemic hypoglycemia of infancy" RELATED [OMIM:256450] xref: DOID:0070219 {source="MONDO:equivalentTo"} xref: OMIM:256450 {source="MONDO:equivalentTo"} xref: Orphanet:276575 {source="OMIM:256450", source="MONDO:directSiblingOf"} xref: SCTID:360339005 {source="MONDO:equivalentTo"} xref: UMLS:C2931833 {source="OMIM:256450", source="MONDO:directSiblingOf"} is_a: EFO:0007318 {source="DC-OMIM:256450", source="MONDO:Redundant"} ! hyperinsulinemic hypoglycemia property_value: exactMatch DOID:0070219 property_value: exactMatch http://identifiers.org/snomedct/360339005 property_value: exactMatch https://omim.org/entry/256450 [Term] id: MONDO:0009735 name: Netherton syndrome def: "Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations." [Orphanet:634] subset: gard_rare {source="GARD:0007182"} subset: ordo_disease {source="Orphanet:634"} synonym: "bamboo hair syndrome" EXACT [Orphanet:634] synonym: "Comel-Netherton syndrome" RELATED [OMIM:256500] synonym: "Comèl-Netherton syndrome" EXACT [Orphanet:634] synonym: "erythroderma, ichthyosiform, with hypotrichosis and hyper-IgE" RELATED [OMIM:256500] synonym: "neth" RELATED [MONDO:Lexical, OMIM:256500] synonym: "Netherton disease" RELATED [OMIM:256500] synonym: "Netherton syndrome" EXACT [MONDO:Lexical, OMIM:256500] synonym: "NS" EXACT ABBREVIATION [OMIM:256500, Orphanet:634] xref: DOID:0050474 {source="MONDO:equivalentTo"} xref: MedDRA:10062909 {source="Orphanet:634", source="Orphanet:634/e"} xref: MESH:D056770 {source="DOID:0050474", source="MONDO:equivalentTo"} xref: NCIT:C84922 {source="DOID:0050474", source="MONDO:equivalentTo"} xref: OMIM:256500 {source="DOID:0050474", source="Orphanet:634", source="MONDO:equivalentTo", source="Orphanet:634/e"} xref: Orphanet:634 {source="MONDO:equivalentTo", source="OMIM:256500"} xref: SCTID:312514006 {source="DOID:0050474", source="MONDO:equivalentTo"} xref: SCTID:54336006 {source="DOID:0050474", source="MONDO:directSiblingOf"} is_a: EFO:0003966 ! eye disease is_a: EFO:1000017 {source="DOID:0050474", source="MONDO:indirect"} ! autosomal recessive disease is_a: MONDO:0017270 ! autosomal ichthyosis syndrome is_a: MONDO:0018037 {source="Orphanet:634"} ! hyper-IgE syndrome property_value: closeMatch http://identifiers.org/meddra/10062909 property_value: exactMatch DOID:0050474 property_value: exactMatch http://identifiers.org/mesh/D056770 property_value: exactMatch http://identifiers.org/snomedct/312514006 property_value: exactMatch https://omim.org/entry/256500 property_value: exactMatch NCIT:C84922 property_value: exactMatch Orphanet:634 property_value: excluded_subClassOf MONDO:0020189 {source="Orphanet:634"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7182/netherton-syndrome xsd:anyURI {source="GARD:0007182"} [Term] id: MONDO:0009737 name: galactosialidosis def: "A lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form." [Orphanet:351] subset: gard_rare {source="GARD:0003953"} subset: ordo_disease {source="Orphanet:351"} synonym: "cathepsin A deficiency" RELATED [OMIM:256540] synonym: "cathepsin A deficiency of" RELATED [GARD:0003953] synonym: "galactosialidosis" EXACT [MONDO:Lexical, OMIM:256540] synonym: "Goldberg syndrome" EXACT [OMIM:256540, Orphanet:351] synonym: "GSL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:256540] synonym: "lysosomal protective Protein deficiency" RELATED [OMIM:256540] synonym: "lysosomal protective protein deficiency of" RELATED [GARD:0003953] synonym: "neuraminidase deficiency with beta-galactosidase deficiency" EXACT [OMIM:256540, Orphanet:351] synonym: "neuraminidase/Beta-galactosidase expression" RELATED [OMIM:256540] synonym: "PPCA deficiency" RELATED [OMIM:256540] synonym: "protective Protein/Cathepsin a deficiency" RELATED [OMIM:256540] xref: DOID:0080540 {source="MONDO:equivalentTo"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536411 {source="Orphanet:351/e", source="MONDO:equivalentTo", source="Orphanet:351"} xref: NCIT:C129928 {source="MONDO:equivalentTo"} xref: OMIM:256540 {source="Orphanet:351/e", source="MONDO:equivalentTo", source="Orphanet:351"} xref: Orphanet:351 {source="OMIM:256540", source="MONDO:equivalentTo"} xref: SCTID:35691006 {source="MONDO:equivalentTo"} xref: UMLS:C0268233 {source="Orphanet:351/e", source="OMIM:256540", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:351", source="NCIT:C129928"} is_a: EFO:0003966 ! eye disease is_a: MONDO:0019251 {source="Orphanet:351"} ! oligosaccharidosis is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement property_value: exactMatch DOID:0080540 property_value: exactMatch http://identifiers.org/mesh/C536411 property_value: exactMatch http://identifiers.org/snomedct/35691006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268233 property_value: exactMatch https://omim.org/entry/256540 property_value: exactMatch NCIT:C129928 property_value: exactMatch Orphanet:351 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3953/galactosialidosis xsd:anyURI {source="GARD:0003953"} [Term] id: MONDO:0009738 name: sialidosis type 2 def: "A rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations." [Orphanet:87876] subset: ordo_disease {source="Orphanet:87876"} synonym: "cherry Red spot--myoclonus syndrome" RELATED [OMIM:256550] synonym: "dysmorphic sialidosis" EXACT [] synonym: "dysmorphic sialidosis with renal involvement" EXACT [] synonym: "glycoprotein neuraminidase deficiency" RELATED [OMIM:256550] synonym: "glycoproteinosis" RELATED [DOID:3343] synonym: "infantile dysmorphic sialidosis" EXACT [Orphanet:87876] synonym: "lipomucopolysaccharidosis" RELATED [OMIM:256550] synonym: "ML 1" RELATED [OMIM:256550] synonym: "ML1" RELATED ABBREVIATION [GARD:0007183] synonym: "mucolipidosis 1" RELATED [OMIM:256550] synonym: "mucolipidosis I" EXACT [NCIT:C125596] synonym: "mucolipidosis type 1" RELATED [GARD:0007183] synonym: "mucolipidosis type I" EXACT [DOID:3343] synonym: "myoclonus--cherry Red spot syndrome" RELATED [OMIM:256550] synonym: "nephrosialidosis" EXACT [MONDO:0009730, OMIM:256150] synonym: "NEU 1 deficiency" RELATED [GARD:0007183] synonym: "Neu deficiency" RELATED [OMIM:256550] synonym: "Neu1 deficiency" RELATED [OMIM:256550] synonym: "NEU1 sialidosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Neug deficiency" RELATED [OMIM:256550] synonym: "neuraminidase 1 deficiency" RELATED [OMIM:256550] synonym: "neuraminidase deficiency" RELATED [OMIM:256550] synonym: "sialidase deficiency" RELATED [OMIM:256550] synonym: "sialidosis" BROAD [DOID:3343] synonym: "sialidosis caused by mutation in NEU1" EXACT [MONDO:design_pattern] synonym: "sialidosis type II" EXACT [NCIT:C125596] synonym: "sialidosis, type 1" RELATED [OMIM:256550] synonym: "sialidosis, type 2" EXACT [OMIM:256550] synonym: "sialidosis, type I" EXACT [OMIM:256550, OMIM:genemap2] synonym: "sialidosis, type II" RELATED [GARD:0007183] xref: DOID:3343 {source="MONDO:equivalentTo"} xref: MESH:C562606 {source="MONDO:equivalentTo"} xref: NCIT:C125596 {source="MONDO:equivalentTo"} xref: NCIT:C61267 {source="DOID:3343", source="MONDO:directSiblingOf"} xref: OMIM:256150 {source="Orphanet:87876/btnt", source="Orphanet:87876", source="MONDO:equivalentTo"} xref: OMIM:256550 {source="DOID:3343", source="Orphanet:87876", source="MONDO:equivalentTo", source="Orphanet:87876/e"} xref: Orphanet:812 {source="OMIM:256550", source="MONDO:directSiblingOf"} xref: Orphanet:87876 {source="OMIM:256150", source="OMIM:256550", source="MONDO:equivalentTo"} xref: SCTID:52186006 {source="MONDO:equivalentTo"} xref: SCTID:70528007 {source="DOID:3343", source="MONDO:directSiblingOf"} xref: SCTID:81896006 {source="MONDO:equivalentTo"} xref: UMLS:C0023806 {source="OMIM:256550", source="MONDO:directSiblingOf"} xref: UMLS:C0026697 {source="DOID:3343", source="MONDO:directSiblingOf"} xref: UMLS:C0268232 {source="OMIM:256150", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C3888317 {source="Orphanet:87876", source="MONDO:equivalentTo"} xref: UMLS:CN206285 {source="MONDO:equivalentTo"} is_a: MONDO:0017734 {source="MONDO:Redundant", source="Orphanet:87876"} ! sialidosis is_a: MONDO:0031422 {source="OMIM:256550"} ! familial mucolipidosis is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement relationship: disease_has_feature MONDO:0002331 {source="MONDO:0009730"} ! nephrosis property_value: exactMatch DOID:3343 property_value: exactMatch http://identifiers.org/mesh/C562606 property_value: exactMatch http://identifiers.org/snomedct/52186006 property_value: exactMatch http://identifiers.org/snomedct/81896006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268232 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888317 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206285 property_value: exactMatch https://omim.org/entry/256150 property_value: exactMatch https://omim.org/entry/256550 property_value: exactMatch NCIT:C125596 property_value: exactMatch Orphanet:87876 property_value: excluded_subClassOf MONDO:0005328 {source="Orphanet:87876"} property_value: excluded_subClassOf MONDO:0005381 property_value: excluded_subClassOf MONDO:0015159 {source="Orphanet:87876"} property_value: excluded_subClassOf MONDO:0019743 {source="Orphanet:87876"} property_value: IAO:0000233 https://github.com/monarch-initiative/monarch-disease-ontology/issues/227 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0009739 name: obsolete infantile neuroaxonal dystrophy property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/204 xsd:anyURI is_obsolete: true replaced_by: MONDO:0024457 [Term] id: MONDO:0009740 name: neurofaciodigitorenal syndrome def: "Neurofaciodigitorenal syndrome is a rare, multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997." [Orphanet:2673] subset: gard_rare {source="GARD:0003964"} subset: ordo_malformation_syndrome {source="Orphanet:2673"} synonym: "Freire Maia-Pinheiro-Opitz syndrome" EXACT [Orphanet:2673] synonym: "Freire-Maia Pinheiro Opitz syndrome" RELATED [GARD:0003964] synonym: "neurofaciodigitorenal syndrome" EXACT [OMIM:256690] synonym: "Nfdr syndrome" RELATED [OMIM:256690] xref: MESH:C537388 {source="Orphanet:2673", source="MONDO:equivalentTo", source="Orphanet:2673/e"} xref: OMIM:256690 {source="Orphanet:2673", source="MONDO:equivalentTo", source="Orphanet:2673/e"} xref: Orphanet:2673 {source="OMIM:256690", source="MONDO:equivalentTo"} xref: SCTID:725908007 {source="MONDO:equivalentTo"} xref: UMLS:C0796088 {source="OMIM:256690", source="Orphanet:2673", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2673/e"} is_a: MONDO:0015159 {source="Orphanet:2673"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C537388 property_value: exactMatch http://identifiers.org/snomedct/725908007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796088 property_value: exactMatch https://omim.org/entry/256690 property_value: exactMatch Orphanet:2673 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2673"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3964/neurofaciodigitorenal-syndrome xsd:anyURI {source="GARD:0003964"} [Term] id: MONDO:0009742 name: neuroectodermal melanolysosomal disease def: "Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin color in sun-exposed areas and severe neurological impairment." [Orphanet:33445] subset: ordo_malformation_syndrome {source="Orphanet:33445"} synonym: "ELEJALDE disease" RELATED [OMIM:256710] synonym: "Elejalde disease" EXACT [Orphanet:33445] synonym: "neuroectodermal melanolysosomal disease" EXACT [OMIM:256710] xref: MESH:C536203 {source="Orphanet:33445", source="MONDO:equivalentTo", source="Orphanet:33445/e"} xref: OMIM:256710 {source="Orphanet:33445", source="MONDO:equivalentTo", source="Orphanet:33445/e"} xref: Orphanet:33445 {source="MONDO:equivalentTo", source="OMIM:256710"} xref: SCTID:724091002 {source="MONDO:equivalentTo"} xref: UMLS:C1860157 {source="Orphanet:33445", source="MONDO:equivalentTo", source="Orphanet:33445/e", source="OMIM:256710"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch http://identifiers.org/mesh/C536203 property_value: exactMatch http://identifiers.org/snomedct/724091002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860157 property_value: exactMatch https://omim.org/entry/256710 property_value: exactMatch Orphanet:33445 property_value: excluded_subClassOf MONDO:0005328 property_value: excluded_subClassOf MONDO:0019289 {source="Orphanet:33445"} property_value: excluded_subClassOf MONDO:0019716 {source="Orphanet:33445"} [Term] id: MONDO:0009744 name: neuronal ceroid lipofuscinosis 1 def: "A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." [NCIT:C85861] subset: gard_rare {source="GARD:0001219"} subset: ordo_disease {source="Orphanet:168486"} subset: ordo_etiological_subtype {source="Orphanet:228329"} synonym: "adult CLN (type of CLN1)" NARROW [GARD:0001219] synonym: "ceroid lipofuscinosis neuronal 1" EXACT [GARD:0001219] synonym: "ceroid lipofuscinosis, neuronal, 1" EXACT [MONDO:Lexical, OMIM:256730] synonym: "ceroid lipofuscinosis, neuronal, 1, variable Age at onset" EXACT [OMIM:256730] synonym: "ceroid lipofuscinosis, neuronal, type 1" EXACT [MONDORULE:1, OMIM:256730] synonym: "ceroid storage disease" EXACT [OMIM:214200] synonym: "classic late infantile CLN (type of CLN1)" NARROW [GARD:0001219] synonym: "CLN1" EXACT ABBREVIATION [DOID:0110721, MONDO:Lexical, OMIM:256730] synonym: "CLN1 disease" EXACT [Orphanet:228329] synonym: "CLN1 variable age at onset" EXACT [GARD:0001219] synonym: "congenital NCL" RELATED [Orphanet:168486] synonym: "congenital neuronal ceroid lipofuscinosis" RELATED [MONDO:0008956] synonym: "infantile CLN (type of CLN1)" NARROW [GARD:0001219] synonym: "infantile neuronal ceroid lipofuscinosis" NARROW [NCIT:C85861] synonym: "juvenile CLN (type of CLN1)" NARROW [GARD:0001219] synonym: "lipofuscin storage disease" RELATED [OMIM:214200] synonym: "neuronal ceroid lipofuscinosis 1" EXACT [] synonym: "neuronal ceroid lipofuscinosis 1 variable age of onset" EXACT [DOID:0110721] synonym: "neuronal ceroid lipofuscinosis caused by mutation in PPT1" EXACT [MONDO:design_pattern] synonym: "neuronal ceroid lipofuscinosis type 1" EXACT [DOID:0110721, MONDORULE:1] synonym: "neuronal ceroid lipofuscinosis, infantile" NARROW [OMIM:256730] synonym: "PPT1 neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Santavuori disease" NARROW [OMIM:256730] synonym: "Santavuori-Haltia disease" NARROW [OMIM:256730] xref: DOID:0110721 {source="MONDO:equivalentTo"} xref: NCIT:C85861 {source="MONDO:equivalentTo"} xref: OMIM:214200 {source="MONDO:equivalentObsolete"} xref: OMIM:256730 {source="DOID:0110721", source="Orphanet:228329", source="MONDO:equivalentTo", source="Orphanet:228329/e"} xref: Orphanet:168486 {source="MONDO:relatedTo"} xref: Orphanet:228329 {source="DOID:0110721", source="MONDO:equivalentTo", source="OMIM:256730"} xref: SCTID:720830009 {source="MONDO:equivalentTo"} is_a: MONDO:0016295 {source="DOID:0110721", source="MONDO:Redundant", source="NCIT:C85861", source="OMIM:256730", source="Orphanet:228329/inferred"} ! neuronal ceroid lipofuscinosis property_value: exactMatch DOID:0110721 property_value: exactMatch http://identifiers.org/snomedct/720830009 property_value: exactMatch https://omim.org/entry/256730 property_value: exactMatch NCIT:C85861 property_value: exactMatch Orphanet:228329 property_value: excluded_subClassOf MONDO:0015674 {source="Orphanet:168491/btnt", source="Orphanet:228329"} property_value: excluded_subClassOf MONDO:0019260 {source="Orphanet:228329", source="Orphanet:79262/btnt"} property_value: excluded_subClassOf MONDO:0019261 {source="Orphanet:228329", source="Orphanet:79263/btnt"} property_value: excluded_subClassOf MONDO:0019262 {source="Orphanet:228329", source="Orphanet:79264/btnt"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2665 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1219/ceroid-lipofuscinosis-neuronal-1 xsd:anyURI {source="GARD:0001219"} [Term] id: MONDO:0009745 name: neuronal ceroid lipofuscinosis 5 def: "Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." [https://rarediseases.info.nih.gov/diseases/1223/neuronal-ceroid-lipofuscinosis-5] subset: gard_rare {source="GARD:0001223"} subset: ordo_etiological_subtype {source="Orphanet:228360"} synonym: "ceroid lipofuscinosis, neuronal, 5" RELATED [MONDO:Lexical, OMIM:256731] synonym: "ceroid lipofuscinosis, neuronal, 5, variable Age at onset" RELATED [OMIM:256731] synonym: "ceroid lipofuscinosis, neuronal, type 5" EXACT [MONDORULE:1, OMIM:256731] synonym: "CLN5" EXACT ABBREVIATION [DOID:0110728, MONDO:Lexical, OMIM:256731] synonym: "CLN5 disease" RELATED [Orphanet:228360] synonym: "CLN5 disease, adult" RELATED [GARD:0001223] synonym: "CLN5 disease, juvenile" RELATED [GARD:0001223] synonym: "CLN5 disease, late infantile (subtype)" RELATED [GARD:0001223] synonym: "CLN5 neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Finnish Vlincl" RELATED [OMIM:256731] synonym: "neuronal ceroid lipofuscinosis 5 variable age of onset" EXACT [DOID:0110728] synonym: "neuronal ceroid lipofuscinosis caused by mutation in CLN5" EXACT [MONDO:design_pattern] synonym: "neuronal ceroid lipofuscinosis Finnish variant" RELATED [GARD:0001223] synonym: "neuronal ceroid lipofuscinosis type 5" EXACT [DOID:0110728, MONDORULE:1] synonym: "neuronal ceroid lipofuscinosis, late infantile, Finnish variant" RELATED [OMIM:256731] xref: DOID:0110728 {source="MONDO:equivalentTo"} xref: MESH:C575534 {source="MONDO:equivalentTo"} xref: OMIM:256731 {source="MONDO:equivalentTo", source="Orphanet:228360", source="DOID:0110728", source="Orphanet:228360/e"} xref: Orphanet:228360 {source="MONDO:equivalentTo", source="OMIM:256731", source="DOID:0110728"} is_a: MONDO:0015674 {source="Orphanet:228360"} ! late infantile neuronal ceroid lipofuscinosis is_a: MONDO:0016295 {source="DOID:0110728", source="MONDO:Redundant", source="OMIM:256731", source="Orphanet:228360/inferred"} ! neuronal ceroid lipofuscinosis property_value: exactMatch DOID:0110728 property_value: exactMatch http://identifiers.org/mesh/C575534 property_value: exactMatch https://omim.org/entry/256731 property_value: exactMatch Orphanet:228360 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1223/neuronal-ceroid-lipofuscinosis-5 xsd:anyURI {source="GARD:0001223"} [Term] id: MONDO:0009746 name: hereditary sensory and autonomic neuropathy type 4 def: "Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever." [Orphanet:642] subset: ordo_disease {source="Orphanet:642"} synonym: "CIP-anhidrosis syndrome" EXACT [Orphanet:642] synonym: "CIPA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:256800] synonym: "congenital insensitivity to pain with anhidrosis" EXACT [NCIT:C118633] synonym: "congenital insensitivity to pain-anhidrosis syndrome" EXACT [Orphanet:642] synonym: "familial dysautonomia, type 2" RELATED [OMIM:256800] synonym: "hereditary sensory and autonomic neuropathy 4" RELATED [OMIM:256800] synonym: "hereditary sensory and autonomic neuropathy caused by mutation in NTRK1" EXACT [MONDO:design_pattern] synonym: "hereditary sensory and autonomic neuropathy type IV" EXACT [Orphanet:642] synonym: "hereditary sensory neuropathy type 4" RELATED [DOID:0070146] synonym: "hereditary sensory neuropathy type IV" EXACT [DOID:0070146] synonym: "HSAN 4" RELATED [OMIM:256800] synonym: "HSAN IV" RELATED [GARD:0003006] synonym: "HSAN4" EXACT ABBREVIATION [Orphanet:642] synonym: "HSNAN4" RELATED ABBREVIATION [GARD:0003006] synonym: "insensitivity to pain, congenital, with anhidrosis" EXACT [DOID:0070146, MONDO:Lexical, OMIM:256800] synonym: "neuropathy, congenital sensory, with anhidrosis" RELATED [OMIM:256800] synonym: "NTRK1 hereditary sensory and autonomic neuropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070146 {source="MONDO:equivalentTo"} xref: NCIT:C118633 {source="DOID:0070146", source="MONDO:equivalentTo"} xref: OMIM:256800 {source="Orphanet:642", source="DOID:0070146", source="MONDO:equivalentTo", source="Orphanet:642/e"} xref: Orphanet:642 {source="DOID:0070146", source="MONDO:equivalentTo", source="OMIM:256800"} xref: PMID:14272277 {source="DOID:0070146"} xref: PMID:8696348 {source="DOID:0070146"} xref: SCTID:62985007 {source="DOID:0070146", source="MONDO:equivalentTo"} xref: UMLS:C0020074 {source="Orphanet:642", source="DOID:0070146", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C118633", source="Orphanet:642/e", source="OMIM:256800"} is_a: MONDO:0015366 {source="Orphanet:642"} ! autosomal recessive hereditary sensory and autonomic neuropathy property_value: exactMatch DOID:0070146 property_value: exactMatch http://identifiers.org/snomedct/62985007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020074 property_value: exactMatch https://omim.org/entry/256800 property_value: exactMatch NCIT:C118633 property_value: exactMatch Orphanet:642 [Term] id: MONDO:0009747 name: mitochondrial DNA depletion syndrome 6 (hepatocerebral type) subset: ordo_disease {source="Orphanet:255229"} synonym: "mitochondrial DNA depletion syndrome 6" RELATED [DOID:0080125, GARD:0003972] synonym: "mitochondrial DNA depletion syndrome 6 (hepatocerebral type)" EXACT [MONDO:Lexical, OMIM:256810] synonym: "MPV17-related hepatocerebral mitochondrial DNA depletion syndrome" RELATED [GARD:0003972] synonym: "MTDPS6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:256810] synonym: "Navajo familial neurogenic arthropathy" RELATED [OMIM:256810] synonym: "Navajo neurohepatopathy" EXACT [OMIM:256810] synonym: "Navajo neuropathy" EXACT [OMIM:256810, Orphanet:255229] synonym: "NN" RELATED ABBREVIATION [GARD:0003972] xref: DOID:0080125 {source="MONDO:equivalentTo"} xref: MESH:C538344 {source="MONDO:equivalentTo"} xref: OMIM:256810 {source="DOID:0080125", source="MONDO:equivalentTo", source="Orphanet:255229", source="Orphanet:255229/e"} xref: Orphanet:255229 {source="MONDO:equivalentTo", source="OMIM:256810"} is_a: MONDO:0100512 {source="Orphanet:255229", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial DNA depletion syndrome, hepatocerebral form property_value: exactMatch DOID:0080125 property_value: exactMatch http://identifiers.org/mesh/C538344 property_value: exactMatch https://omim.org/entry/256810 property_value: exactMatch Orphanet:255229 [Term] id: MONDO:0009748 name: hereditary sensory and autonomic neuropathy with spastic paraplegia def: "This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia." [Orphanet:139578] subset: ordo_disease {source="Orphanet:139578"} synonym: "hereditary sensory and autonomic neuropathy with spastic paraplegia" EXACT [] synonym: "HSAN with spastic paraplegia" EXACT [Orphanet:139578] synonym: "neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive" RELATED [OMIM:256840] xref: MESH:C564948 {source="MONDO:equivalentTo"} xref: OMIM:256840 {source="Orphanet:139578", source="MONDO:equivalentTo", source="Orphanet:139578/e"} xref: Orphanet:139578 {source="MONDO:equivalentTo", source="OMIM:256840"} xref: SCTID:717827000 {source="MONDO:equivalentTo"} xref: UMLS:C1850395 {source="Orphanet:139578", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:256840"} xref: UMLS:C4303565 {source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:139578"} ! autosomal recessive complex spastic paraplegia is_a: MONDO:0015366 {source="Orphanet:139578"} ! autosomal recessive hereditary sensory and autonomic neuropathy property_value: exactMatch http://identifiers.org/mesh/C564948 property_value: exactMatch http://identifiers.org/snomedct/717827000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850395 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303565 property_value: exactMatch https://omim.org/entry/256840 property_value: exactMatch Orphanet:139578 [Term] id: MONDO:0009756 name: Niemann-Pick disease type A def: "Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders." [Orphanet:77292] subset: ordo_disease {source="Orphanet:77292"} synonym: "Niemann-Pick disease, Intermediate, protracted neurovisceral" RELATED [OMIM:257200] synonym: "Niemann-PICK disease, type A" RELATED [OMIM:257200] synonym: "sphingomyelin lipidosis" RELATED [OMIM:257200] synonym: "sphingomyelinase deficiency" RELATED [OMIM:257200] xref: DOID:0070111 {source="MONDO:equivalentTo"} xref: MESH:D052536 {source="MONDO:equivalentTo", source="Orphanet:77292", source="Orphanet:77292/e"} xref: NCIT:C126561 {source="MONDO:equivalentTo"} xref: OMIM:257200 {source="DOID:0070111", source="MONDO:equivalentTo", source="Orphanet:77292", source="Orphanet:77292/e"} xref: Orphanet:77292 {source="OMIM:257200", source="MONDO:equivalentTo"} xref: SCTID:52165006 {source="MONDO:equivalentTo"} xref: UMLS:C0268242 {source="NCIT:C126561", source="OMIM:257200", source="MONDO:equivalentTo", source="Orphanet:77292", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:77292/e"} is_a: EFO:0003966 ! eye disease is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0100464 {source="https://clinicalgenome.org/affiliation/40110/"} ! acid sphingomyelinase deficiency relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch DOID:0070111 property_value: exactMatch http://identifiers.org/mesh/D052536 property_value: exactMatch http://identifiers.org/snomedct/52165006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268242 property_value: exactMatch https://omim.org/entry/257200 property_value: exactMatch NCIT:C126561 property_value: exactMatch Orphanet:77292 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4984 xsd:anyURI [Term] id: MONDO:0009760 name: Norman-Roberts syndrome def: "Lissencephaly syndrome, Norman-Roberts type is characterized by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation." [Orphanet:89844] subset: ordo_clinical_subtype {source="Orphanet:89844"} synonym: "LIS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:257320] synonym: "lissencephaly 2" EXACT [DOID:0060902, MONDO:Lexical, OMIM:257320] synonym: "lissencephaly 2 (Norman-Roberts type)" EXACT [OMIM:257320, OMIM:genemap2] synonym: "lissencephaly syndrome Norman-Roberts type" RELATED [GARD:0003277] synonym: "lissencephaly syndrome, Norman-Roberts type" EXACT [DOID:0060902, OMIM:257320] synonym: "Microlissencephaly type A" EXACT [Orphanet:89844] synonym: "Norman Roberts lissencephaly syndrome" RELATED [GARD:0003277] synonym: "Norman-Roberts syndrome" EXACT [OMIM:257320] xref: DOID:0060902 {source="MONDO:equivalentTo"} xref: OMIM:257320 {source="Orphanet:89844", source="MONDO:equivalentTo", source="Orphanet:89844/e", source="DOID:0060902"} xref: Orphanet:89844 {source="OMIM:257320", source="MONDO:equivalentTo", source="DOID:0060902"} xref: SCTID:717977003 {source="MONDO:equivalentTo"} xref: UMLS:C0796089 {source="Orphanet:89844", source="OMIM:257320", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:89844/e", source="DOID:0060902"} is_a: MONDO:0015204 {source="Orphanet:89844"} ! microlissencephaly is_a: MONDO:0019313 ! lymphatic malformation is_a: MONDO:0019520 {source="MONDO:Redundant", source="Orphanet:89844"} ! syndromic lymphedema is_a: MONDO:0043218 ! neurovascular disorder property_value: exactMatch DOID:0060902 property_value: exactMatch http://identifiers.org/snomedct/717977003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796089 property_value: exactMatch https://omim.org/entry/257320 property_value: exactMatch Orphanet:89844 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009764 name: ocular motor apraxia, Cogan type def: "Ocular motor apraxia, Cogan type is characterized by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type." [Orphanet:1125] subset: gard_rare subset: ordo_disease {source="Orphanet:1125"} synonym: "Cogan syndrome type 2" RELATED [] synonym: "Cogan's syndrome type 2" RELATED [GARD:0000016] synonym: "COMA" RELATED ABBREVIATION [GARD:0000016] synonym: "congenital oculomotor apraxia" RELATED [GARD:0000016] synonym: "ocular motor apraxia" RELATED [OMIM:257550] synonym: "oculomotor apraxia Cogan type" RELATED [GARD:0000016] synonym: "oculomotor apraxia, Cogan type" EXACT [OMIM:257550, Orphanet:1125] synonym: "oculomotor apraxia, congenital, Cogan-type" EXACT [OMIM:257550, OMIM:genemap2] synonym: "saccade initiation failure congenital" RELATED [GARD:0000016] synonym: "saccade initiation failure, congenital" RELATED [OMIM:257550] xref: DOID:0080849 {source="MONDO:equivalentTo"} xref: MESH:C537423 {source="Orphanet:1125", source="MONDO:equivalentTo", source="Orphanet:1125/e"} xref: OMIM:257550 {source="Orphanet:1125", source="MONDO:equivalentTo", source="GARD:0000016", source="Orphanet:1125/e"} xref: Orphanet:1125 {source="OMIM:257550", source="MONDO:equivalentTo", source="GARD:0000016"} xref: SCTID:405809000 {source="MONDO:equivalentTo"} is_a: MONDO:0015368 {source="https://github.com/monarch-initiative/mondo/issues/834", source="https://orcid.org/0000-0001-5208-3432"} ! neuro-ophthalmological disease property_value: exactMatch DOID:0080849 property_value: exactMatch http://identifiers.org/mesh/C537423 property_value: exactMatch http://identifiers.org/snomedct/405809000 property_value: exactMatch https://omim.org/entry/257550 property_value: exactMatch Orphanet:1125 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009767 name: oculocerebral hypopigmentation syndrome, Cross type def: "Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia." [Orphanet:2719] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2719"} synonym: "Cross syndrome" EXACT [GARD:0000105, OMIM:257800, Orphanet:2719] synonym: "hypopigmentation oculocerebral syndrome Cross type" RELATED [GARD:0000105] synonym: "Kramer syndrome" RELATED [GARD:0000105, OMIM:257800] synonym: "oculocerebral hypopigmentation syndrome" RELATED [GARD:0000105] synonym: "oculocerebral syndrome with hypopigmentation" RELATED [OMIM:257800] xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:2719/ntbt", source="Orphanet:2719/inclusion", source="Orphanet:2719"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:257800 {source="Orphanet:2719/e", source="GARD:0000105", source="MONDO:equivalentTo", source="Orphanet:2719"} xref: Orphanet:2719 {source="GARD:0000105", source="MONDO:equivalentTo", source="OMIM:257800"} xref: SCTID:17827007 {source="MONDO:equivalentTo"} is_a: MONDO:0017305 {source="Orphanet:2719"} ! syndromic oculocutaneous albinism is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:2719", source="Orphanet:2719/inferred"} ! disorder of development or morphogenesis property_value: exactMatch http://identifiers.org/snomedct/17827007 property_value: exactMatch https://omim.org/entry/257800 property_value: exactMatch Orphanet:2719 [Term] id: MONDO:0009769 name: oculo-palato-cerebral syndrome def: "Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities." [Orphanet:2714] subset: ordo_malformation_syndrome {source="Orphanet:2714"} synonym: "oculo-palato-cerebral dwarfism" EXACT [Orphanet:2714] synonym: "oculopalatocerebral dwarfism" RELATED [OMIM:257910] synonym: "oculopalatocerebral syndrome" RELATED [OMIM:257910] synonym: "OPC dwarfism" RELATED [OMIM:257910] xref: MESH:C564935 {source="MONDO:equivalentTo"} xref: OMIM:257910 {source="Orphanet:2714/e", source="MONDO:equivalentTo", source="Orphanet:2714"} xref: Orphanet:2714 {source="MONDO:equivalentTo", source="OMIM:257910"} xref: SCTID:722055008 {source="MONDO:equivalentTo"} xref: UMLS:C1850338 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:257910", source="Orphanet:2714"} is_a: MONDO:0015159 {source="Orphanet:2714"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C564935 property_value: exactMatch http://identifiers.org/snomedct/722055008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850338 property_value: exactMatch https://omim.org/entry/257910 property_value: exactMatch Orphanet:2714 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2714"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0009771 name: oculotrichodysplasia def: "Oculotrichodysplasia is characterized by retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive." [Orphanet:2718] subset: ordo_malformation_syndrome {source="Orphanet:2718"} synonym: "Cecato de Lima-Pinheiro syndrome" EXACT [Orphanet:2718] synonym: "oculotrichodysplasia" EXACT [MONDO:Lexical, OMIM:257960] synonym: "OTD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:257960] xref: MESH:C564934 {source="MONDO:equivalentTo"} xref: OMIM:257960 {source="Orphanet:2718/e", source="MONDO:equivalentTo", source="Orphanet:2718"} xref: Orphanet:2718 {source="MONDO:equivalentTo", source="OMIM:257960"} xref: SCTID:722062004 {source="MONDO:equivalentTo"} xref: UMLS:C1850332 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:257960", source="Orphanet:2718"} is_a: MONDO:0019287 {source="Orphanet:2718"} ! ectodermal dysplasia syndrome is_a: MONDO:0020240 {source="Orphanet:2718"} ! syndromic retinitis pigmentosa property_value: exactMatch http://identifiers.org/mesh/C564934 property_value: exactMatch http://identifiers.org/snomedct/722062004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850332 property_value: exactMatch https://omim.org/entry/257960 property_value: exactMatch Orphanet:2718 [Term] id: MONDO:0009773 name: odonto-onycho-dermal dysplasia def: "A form of ectodermal dysplasia characterized by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair." [Orphanet:2721] subset: ordo_disease {source="Orphanet:2721"} synonym: "ectodermal dysplasia" BROAD [OMIM:257980] synonym: "odontoonychodermal dysplasia" RELATED [MONDO:Lexical, OMIM:257980] synonym: "OODD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:257980, Orphanet:2721] xref: MESH:C537742 {source="MONDO:equivalentTo", source="Orphanet:2721", source="Orphanet:2721/e"} xref: OMIM:257980 {source="MONDO:equivalentTo", source="Orphanet:2721", source="Orphanet:2721/e"} xref: Orphanet:2721 {source="OMIM:257980", source="MONDO:equivalentTo"} xref: SCTID:403762003 {source="MONDO:equivalentTo"} xref: UMLS:C0796093 {source="OMIM:257980", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2721"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0017666 {source="MONDO:0017671-obsoleted"} ! diffuse palmoplantar keratoderma is_a: MONDO:0100358 ! ectodermal dysplasia WNT10A related property_value: exactMatch http://identifiers.org/mesh/C537742 property_value: exactMatch http://identifiers.org/snomedct/403762003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796093 property_value: exactMatch https://omim.org/entry/257980 property_value: exactMatch Orphanet:2721 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3293 xsd:anyURI [Term] id: MONDO:0009774 name: cloacal exstrophy def: "A major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations." [Orphanet:93929] subset: ordo_clinical_subtype {source="Orphanet:93929"} synonym: "cloacal exstrophy" EXACT [MONDO:ambiguous] synonym: "cloacal exstrophy (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "cloacal exstrophy sequence" RELATED [GARD:0004080] synonym: "OEIS complex" RELATED [OMIM:258040, Orphanet:93929] synonym: "OEIS syndrome" RELATED [NCIT:C99142] synonym: "omphalocele - cloacal exstrophy - imperforate anus - spinal defect" RELATED [GARD:0004080] synonym: "omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects" RELATED [GARD:0004080] synonym: "omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex" RELATED [GARD:0004080] synonym: "omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome" EXACT [Orphanet:93929] synonym: "omphalocele-exstrophy-imperforate anus-spinal defects" RELATED [OMIM:258040] xref: DOID:0080175 {source="MONDO:equivalentTo"} xref: HP:0010475 {source="MONDO:otherHierarchy"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10067424 {source="Orphanet:93929", source="Orphanet:93929/e"} xref: MESH:C537748 {source="MONDO:equivalentTo"} xref: Orphanet:93929 {source="MONDO:equivalentTo", source="OMIM:258040"} xref: SCTID:20815007 {source="MONDO:equivalentTo"} xref: UMLS:C0345217 {source="Orphanet:93929", source="MONDO:equivalentTo", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0015246 {source="Orphanet:93929"} ! syndromic anorectal malformation is_a: MONDO:0015620 ! syndromic urogenital tract malformation is_a: MONDO:0017919 {source="DOID:0080175", source="Orphanet:93929"} ! exstrophy-epispadias complex property_value: closeMatch http://identifiers.org/meddra/10067424 property_value: exactMatch DOID:0080175 property_value: exactMatch http://identifiers.org/mesh/C537748 property_value: exactMatch http://identifiers.org/snomedct/20815007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345217 property_value: exactMatch Orphanet:93929 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3650 xsd:anyURI property_value: IAO:0000589 "cloacal exstrophy (disease)" xsd:string [Term] id: MONDO:0009776 name: spermatogenic failure 1 synonym: "Oligochiasmatic infertility" RELATED [OMIM:258150] synonym: "Oligosynaptic infertility" RELATED [OMIM:258150] synonym: "spermatogenic failure 1" EXACT [MONDO:Lexical, OMIM:258150] synonym: "SPGF1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:258150] xref: DOID:0070188 {source="MONDO:equivalentTo"} xref: MESH:C562902 {source="MONDO:equivalentTo"} xref: OMIM:258150 {source="MONDO:equivalentTo"} xref: Orphanet:217034 {source="MONDO:relatedTo", source="OMIM:258150"} xref: SCTID:236803007 {source="MONDO:equivalentTo"} xref: UMLS:C0403810 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:258150"} is_a: EFO:0000279 {source="DC-OMIM:258150", source="OMIM:258150"} ! azoospermia is_a: MONDO:0018393 {source="Orphanet:399805/btnt"} ! male infertility with azoospermia or oligozoospermia due to single gene mutation property_value: exactMatch DOID:0070188 property_value: exactMatch http://identifiers.org/mesh/C562902 property_value: exactMatch http://identifiers.org/snomedct/236803007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0403810 property_value: exactMatch https://omim.org/entry/258150 property_value: relatedMatch Orphanet:217034 [Term] id: MONDO:0009777 name: Oliver syndrome def: "Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy." [Orphanet:2920] subset: gard_rare {source="GARD:0004069"} subset: ordo_malformation_syndrome {source="Orphanet:2920"} synonym: "Oliver syndrome" EXACT [OMIM:258200] synonym: "postaxial polydactyly and intellectual disability" RELATED [OMIM:258200] synonym: "postaxial polydactyly and mental retardation" RELATED DEPRECATED [OMIM:258200] synonym: "postaxial polydactyly-intellectual disability syndrome" EXACT [Orphanet:2920] xref: MESH:C564931 {source="MONDO:equivalentTo"} xref: OMIM:258200 {source="MONDO:equivalentTo", source="Orphanet:2920", source="Orphanet:2920/e"} xref: Orphanet:2920 {source="OMIM:258200", source="MONDO:equivalentTo"} xref: SCTID:721017000 {source="MONDO:equivalentTo"} xref: UMLS:C1850320 {source="OMIM:258200", source="MONDO:equivalentTo", source="Orphanet:2920", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015159 {source="Orphanet:2920"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C564931 property_value: exactMatch http://identifiers.org/snomedct/721017000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850320 property_value: exactMatch https://omim.org/entry/258200 property_value: exactMatch Orphanet:2920 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2920"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4069/oliver-syndrome xsd:anyURI {source="GARD:0004069"} [Term] id: MONDO:0009779 name: autosomal recessive omodysplasia def: "Autosomal recessive form of omodysplasia." [MONDO:patterns/autosomal_recessive] subset: ordo_clinical_subtype {source="Orphanet:93329"} synonym: "autosomal recessive omodysplasia" EXACT [] synonym: "micromelic dysplasia congenita with dislocation of radius" RELATED [GARD:0004076] synonym: "micromelic dysplasia, congenital, with dislocation of radius" RELATED [OMIM:258315] synonym: "micromelic dysplasia-dislocation of radius syndrome" EXACT [Orphanet:93329] synonym: "OMOD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:258315] synonym: "omodysplasia 1" RELATED [MONDO:Lexical, OMIM:258315] synonym: "omodysplasia autosomal recessive" RELATED [GARD:0004076] synonym: "omodysplasia generalised form" RELATED OMO:0003005 [] synonym: "omodysplasia generalized form" RELATED [GARD:0004076] synonym: "omodysplasia type 1" EXACT [MONDORULE:1, OMIM:258315] synonym: "omodysplasia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:258315] synonym: "omodysplasia, generalised form" RELATED OMO:0003005 [] synonym: "omodysplasia, generalized form" RELATED [OMIM:258315] xref: DOID:0080844 {source="MONDO:equivalentTo"} xref: OMIM:258315 {source="Orphanet:93329/e", source="MONDO:equivalentTo", source="Orphanet:93329"} xref: Orphanet:93329 {source="MONDO:equivalentTo", source="OMIM:258315"} xref: SCTID:725166005 {source="MONDO:equivalentTo"} xref: UMLS:C1850318 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:258315", source="Orphanet:93329"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0017136 {source="DC-OMIM:258315", source="MONDO:Redundant", source="Orphanet:93329"} ! omodysplasia property_value: exactMatch DOID:0080844 property_value: exactMatch http://identifiers.org/snomedct/725166005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850318 property_value: exactMatch https://omim.org/entry/258315 property_value: exactMatch Orphanet:93329 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0009780 name: lethal omphalocele-cleft palate syndrome def: "Lethal omphalocele-cleft palate syndrome is characterized by the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. One had omphalocele, posterior cleft palate, and uterus bicornuatus; she died at 2 months. The second had omphalocele, cleft uvula, and hydrocephalus and died at 4 months; the third had omphalocele and cleft palate and died at 1 year. This syndrome is likely to be inherited as an autosomal recessive condition." [Orphanet:2736] subset: gard_rare {source="GARD:0004079"} subset: ordo_malformation_syndrome {source="Orphanet:2736"} synonym: "cleft palate-omphalocele syndrome, lethal" RELATED [OMIM:258320] synonym: "Czeizel syndrome" EXACT [Orphanet:2736] synonym: "omphalocele cleft palate syndrome lethal" RELATED [GARD:0004079] synonym: "omphalocele-cleft palate syndrome, lethal" RELATED [OMIM:258320] xref: MESH:C537747 {source="Orphanet:2736/e", source="MONDO:equivalentTo", source="Orphanet:2736"} xref: OMIM:258320 {source="Orphanet:2736/e", source="MONDO:equivalentTo", source="Orphanet:2736"} xref: Orphanet:2736 {source="OMIM:258320", source="MONDO:equivalentTo"} xref: SCTID:719408007 {source="MONDO:equivalentTo"} xref: UMLS:C1850317 {source="Orphanet:2736/e", source="OMIM:258320", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2736"} is_a: MONDO:0015159 {source="Orphanet:2736"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C537747 property_value: exactMatch http://identifiers.org/snomedct/719408007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850317 property_value: exactMatch https://omim.org/entry/258320 property_value: exactMatch Orphanet:2736 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2736"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4079/omphalocele-cleft-palate-syndrome-lethal xsd:anyURI {source="GARD:0004079"} [Term] id: MONDO:0009785 name: opsismodysplasia def: "Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism." [Orphanet:2746] subset: gard_rare {source="GARD:0004098"} subset: ordo_disease {source="Orphanet:2746"} synonym: "OPSISMODYSPLASIA" RELATED ABBREVIATION [OMIM:258480] synonym: "opsismodysplasia" EXACT [MONDO:Lexical, OMIM:258480] synonym: "OPSMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:258480] xref: MESH:C537122 {source="MONDO:equivalentTo", source="Orphanet:2746", source="Orphanet:2746/e"} xref: OMIM:258480 {source="MONDO:equivalentTo", source="Orphanet:2746", source="Orphanet:2746/e"} xref: Orphanet:2746 {source="MONDO:equivalentTo", source="OMIM:258480"} xref: SCTID:254068007 {source="MONDO:equivalentTo"} xref: UMLS:C0432219 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2746", source="Orphanet:2746/e", source="OMIM:258480"} is_a: MONDO:0800080 {source="PMID:31633310"} ! severe spondylodysplastic dysplasia property_value: exactMatch http://identifiers.org/mesh/C537122 property_value: exactMatch http://identifiers.org/snomedct/254068007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432219 property_value: exactMatch https://omim.org/entry/258480 property_value: exactMatch Orphanet:2746 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4098/opsismodysplasia xsd:anyURI {source="GARD:0004098"} [Term] id: MONDO:0009786 name: optic atrophy 6 synonym: "OPA6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:258500] synonym: "optic atrophy 6" EXACT [MONDO:Lexical, OMIM:258500] synonym: "optic atrophy, congenital or early infantile, autosomal recessive" RELATED [OMIM:258500] xref: DOID:0111435 {source="MONDO:equivalentTo"} xref: MESH:C537127 {source="MONDO:equivalentTo"} xref: OMIM:258500 {source="MONDO:equivalentTo"} xref: Orphanet:99012 {source="MONDO:equivalentObsolete", source="OMIM:258500"} is_a: MONDO:0014753 {source="Orphanet:98676/btnt"} ! autosomal recessive optic atrophy property_value: exactMatch DOID:0111435 property_value: exactMatch http://identifiers.org/mesh/C537127 property_value: exactMatch https://omim.org/entry/258500 [Term] id: MONDO:0009787 name: 3-methylglutaconic aciduria type 3 def: "3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterized by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria." [Orphanet:67047] subset: ordo_disease {source="Orphanet:67047"} synonym: "3-alpha methylglutaconic aciduria type III" RELATED [GARD:0005663] synonym: "3-methylglutaconic aciduria caused by mutation in OPA3" EXACT [MONDO:design_pattern] synonym: "3-methylglutaconic aciduria type III" EXACT [DOID:0110004] synonym: "3-methylglutaconic aciduria, type 3" RELATED [OMIM:258501] synonym: "3-methylglutaconic aciduria, type III" RELATED [MONDO:Lexical, OMIM:258501] synonym: "autosomal recessive optic atrophy plus syndrome" EXACT [DOID:0110004, Orphanet:67047] synonym: "autosomal recessive optic atrophy type 3" EXACT [DOID:0110004, Orphanet:67047] synonym: "Costeff optic atrophy syndrome" EXACT [DOID:0110004, Orphanet:67047] synonym: "Costeff syndrome" EXACT [DOID:0110004, OMIM:258501, Orphanet:67047] synonym: "infantile optic atrophy with chorea and spastic paraplegia" EXACT [DOID:0110004, Orphanet:67047] synonym: "Iraqi Jewish optic atrophy plus" RELATED [GARD:0005663] synonym: "Iraqi-Jewish 'optic atrophy plus'" RELATED [OMIM:258501] synonym: "Iraqi-Jewish optic atrophy plus" EXACT [DOID:0110004] synonym: "MGA type III" RELATED [GARD:0005663] synonym: "MGA, type 3" RELATED [OMIM:258501] synonym: "MGA3" EXACT ABBREVIATION [DOID:0110004, Orphanet:67047] synonym: "MGCA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:258501] synonym: "OPA3 3-methylglutaconic aciduria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "OPA3 defect" BROAD [GARD:0005663] synonym: "OPA3, autosomal recessive" RELATED [OMIM:258501] synonym: "optic atrophy 3, autosomal recessive" RELATED [OMIM:258501] synonym: "optic atrophy infantile with chorea and spastic paraplegia" RELATED [GARD:0005663] synonym: "optic atrophy plus syndrome" RELATED [OMIM:258501] synonym: "optic atrophy, infantile, with chorea and spastic paraplegia" RELATED [OMIM:258501] xref: DOID:0110004 {source="MONDO:equivalentTo"} xref: MESH:C535311 {source="Orphanet:67047/e", source="MONDO:equivalentTo", source="Orphanet:67047"} xref: OMIM:258501 {source="Orphanet:67047/e", source="MONDO:equivalentTo", source="DOID:0110004", source="Orphanet:67047"} xref: Orphanet:67047 {source="MONDO:equivalentTo", source="OMIM:258501", source="DOID:0110004"} xref: SCTID:297232009 {source="MONDO:equivalentTo"} xref: UMLS:C0574084 {source="Orphanet:67047/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:258501", source="Orphanet:67047"} is_a: MONDO:0017359 {source="DC-OMIM:258501", source="DOID:0110004", source="MONDO:Redundant", source="OMIM:258501", source="Orphanet:67047"} ! 3-methylglutaconic aciduria property_value: exactMatch DOID:0110004 property_value: exactMatch http://identifiers.org/mesh/C535311 property_value: exactMatch http://identifiers.org/snomedct/297232009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0574084 property_value: exactMatch https://omim.org/entry/258501 property_value: exactMatch Orphanet:67047 [Term] id: MONDO:0009792 name: ichthyosis-oral and digital anomalies syndrome def: "Ichthyosis-oral and digital anomalies syndrome is characterized by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive." [Orphanet:2272] subset: ordo_malformation_syndrome {source="Orphanet:2272"} synonym: "Clayton Smith-Donnai syndrome" EXACT [Orphanet:2272] synonym: "ichthyosis tapered fingers midline groove up" RELATED [GARD:0002960] synonym: "oral and digital anomalies with ichthyosis" RELATED [OMIM:258840] synonym: "unusual facies, digital abnormalities, and ichthyosis" RELATED [GARD:0002960] xref: MESH:C536272 {source="MONDO:equivalentTo"} xref: OMIM:258840 {source="Orphanet:2272/e", source="MONDO:equivalentTo", source="Orphanet:2272"} xref: Orphanet:2272 {source="MONDO:equivalentTo", source="OMIM:258840"} xref: UMLS:C1850268 {source="Orphanet:2272/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:258840", source="Orphanet:2272"} is_a: MONDO:0015161 {source="Orphanet:2272"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0017270 ! autosomal ichthyosis syndrome property_value: exactMatch http://identifiers.org/mesh/C536272 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850268 property_value: exactMatch https://omim.org/entry/258840 property_value: exactMatch Orphanet:2272 [Term] id: MONDO:0009793 name: orofaciodigital syndrome III def: "Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." [Orphanet:2752] subset: gard_rare {source="GARD:0010518"} subset: ordo_malformation_syndrome {source="Orphanet:2752"} synonym: "OFD syndrome 3" RELATED [GARD:0010518] synonym: "OFD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:258850, Orphanet:2752] synonym: "Ofds 3" RELATED [OMIM:258850] synonym: "oral facial digital syndrome 3" RELATED [GARD:0010518] synonym: "oral facial digital syndrome type 3" RELATED [GARD:0010518] synonym: "oral-facial-digital syndrome type 3" EXACT [Orphanet:2752] synonym: "oral-Facial-digital syndrome, type 3" RELATED [OMIM:258850] synonym: "orofaciodigital syndrome 3" RELATED [GARD:0010518] synonym: "orofaciodigital syndrome III" EXACT [MONDO:Lexical, OMIM:258850] synonym: "orofaciodigital syndrome type 3" RELATED [Orphanet:2752] synonym: "orofaciodigital syndrome type III" EXACT [DOID:0060373, MONDORULE:3] synonym: "Sugarman syndrome" EXACT [DOID:0060373, OMIM:258850, Orphanet:2752] xref: DOID:0060373 {source="MONDO:equivalentTo"} xref: MESH:C557817 {source="DOID:0060373", source="MONDO:equivalentTo"} xref: OMIM:258850 {source="DOID:0060373", source="Orphanet:2752", source="MONDO:equivalentTo", source="Orphanet:2752/e"} xref: Orphanet:2752 {source="DOID:0060373", source="OMIM:258850", source="MONDO:equivalentTo"} xref: SCTID:239030004 {source="DOID:0060373", source="MONDO:equivalentTo"} is_a: MONDO:0015375 {source="DC-OMIM:258850", source="DOID:0060373", source="MESH:C557817", source="Orphanet:2752"} ! orofaciodigital syndrome property_value: exactMatch DOID:0060373 property_value: exactMatch http://identifiers.org/mesh/C557817 property_value: exactMatch http://identifiers.org/snomedct/239030004 property_value: exactMatch https://omim.org/entry/258850 property_value: exactMatch Orphanet:2752 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:2752"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10518/orofaciodigital-syndrome-3 xsd:anyURI {source="GARD:0010518"} [Term] id: MONDO:0009794 name: orofaciodigital syndrome IV def: "Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." [Orphanet:2753] subset: gard_rare {source="GARD:0000816"} subset: ordo_malformation_syndrome {source="Orphanet:2753"} synonym: "Baraitser-Burn syndrome" EXACT [DOID:0060374, Orphanet:2753] synonym: "Mohr-Majewski syndrome" EXACT [OMIM:258860, Orphanet:2753] synonym: "OFD syndrome 4" RELATED [GARD:0000816] synonym: "Ofd syndrome with tibial defects" RELATED [OMIM:258860] synonym: "Ofd syndrome, Baraitser-Burn type" RELATED [OMIM:258860] synonym: "OFD4" EXACT ABBREVIATION [DOID:0060374, MONDO:Lexical, OMIM:258860, Orphanet:2753] synonym: "Ofds 4" RELATED [OMIM:258860] synonym: "oral facial digital syndrome 4" RELATED [GARD:0000816] synonym: "oral facial digital syndrome type 4" RELATED [GARD:0000816] synonym: "oral-facial-digital syndrome type 4" EXACT [Orphanet:2753] synonym: "oral-Facial-digital syndrome, type 4" RELATED [OMIM:258860] synonym: "orofaciodigital syndrome 4" RELATED [GARD:0000816] synonym: "orofaciodigital syndrome IV" EXACT [MONDO:Lexical, OMIM:258860] synonym: "orofaciodigital syndrome type 4" EXACT [MONDORULE:1, OMIM:258860] synonym: "orofaciodigital syndrome type IV" EXACT [DOID:0060374, MONDORULE:3] synonym: "orofaciodigital syndrome with tibial dysplasia" RELATED [GARD:0000816] xref: DOID:0060374 {source="MONDO:equivalentTo"} xref: MESH:C537133 {source="DOID:0060374", source="MONDO:equivalentTo"} xref: OMIM:258860 {source="DOID:0060374", source="Orphanet:2753", source="MONDO:equivalentTo", source="Orphanet:2753/e"} xref: Orphanet:2753 {source="DOID:0060374", source="OMIM:258860", source="MONDO:equivalentTo"} xref: SCTID:239031000 {source="DOID:0060374", source="MONDO:equivalentTo"} xref: UMLS:C0406727 {source="DOID:0060374", source="Orphanet:2753", source="OMIM:258860", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2753/e"} is_a: MONDO:0015375 {source="DC-OMIM:258860", source="DOID:0060374", source="MESH:C537133", source="Orphanet:2753"} ! orofaciodigital syndrome is_a: MONDO:0015929 {source="Orphanet:2753"} ! thoracic malformation is_a: MONDO:0019691 {source="Orphanet:2753", source="PMID:31633310"} ! short rib dysplasia property_value: exactMatch DOID:0060374 property_value: exactMatch http://identifiers.org/mesh/C537133 property_value: exactMatch http://identifiers.org/snomedct/239031000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406727 property_value: exactMatch https://omim.org/entry/258860 property_value: exactMatch Orphanet:2753 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:2753"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/816/orofaciodigital-syndrome-4 xsd:anyURI {source="GARD:0000816"} [Term] id: MONDO:0009795 name: orofaciodigital syndrome IX def: "Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disk coloboma and retinal dysplasia with partial detachment)." [Orphanet:141007] subset: gard_rare {source="GARD:0010520"} subset: ordo_malformation_syndrome {source="Orphanet:141007"} synonym: "OFD syndrome 9" RELATED [GARD:0010520] synonym: "OFD9" EXACT ABBREVIATION [DOID:0060382, MONDO:Lexical, OMIM:258865, Orphanet:141007] synonym: "Ofds 9" RELATED [OMIM:258865] synonym: "oral facial digital syndrome 9" RELATED [GARD:0010520] synonym: "oral facial digital syndrome type 9" RELATED [GARD:0010520] synonym: "oral-facial-digital syndrome type 9" EXACT [Orphanet:141007] synonym: "oral-Facial-digital syndrome with retinal abnormalities" RELATED [OMIM:258865] synonym: "oral-facial-digital syndrome with retinal abnormalities" EXACT [Orphanet:141007] synonym: "oral-Facial-digital syndrome, type 9" RELATED [OMIM:258865] synonym: "orofaciodigital syndrome 9" RELATED [GARD:0010520] synonym: "orofaciodigital syndrome IX" EXACT [MONDO:Lexical, OMIM:258865] synonym: "orofaciodigital syndrome type 9" RELATED [Orphanet:141007] synonym: "orofaciodigital syndrome type IX" EXACT [DOID:0060382, MONDORULE:3] synonym: "orofaciodigital syndrome with retinal abnormalities" EXACT [DOID:0060382, OMIM:258865, Orphanet:141007] xref: DOID:0060382 {source="MONDO:equivalentTo"} xref: MESH:C557818 {source="MONDO:equivalentTo", source="DOID:0060382"} xref: OMIM:258865 {source="Orphanet:141007/e", source="MONDO:equivalentTo", source="Orphanet:141007", source="DOID:0060382"} xref: Orphanet:141007 {source="MONDO:equivalentTo", source="OMIM:258865", source="DOID:0060382"} xref: SCTID:718680001 {source="MONDO:equivalentTo"} xref: UMLS:C0796102 {source="Orphanet:141007/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:258865", source="Orphanet:141007", source="DOID:0060382"} is_a: MONDO:0015375 {source="DC-OMIM:258865", source="DOID:0060382", source="MESH:C557818", source="Orphanet:141007"} ! orofaciodigital syndrome property_value: exactMatch DOID:0060382 property_value: exactMatch http://identifiers.org/mesh/C557818 property_value: exactMatch http://identifiers.org/snomedct/718680001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796102 property_value: exactMatch https://omim.org/entry/258865 property_value: exactMatch Orphanet:141007 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10520/orofaciodigital-syndrome-9 xsd:anyURI {source="GARD:0010520"} [Term] id: MONDO:0009796 name: ornithine aminotransferase deficiency def: "A very rare inherited retinal dystrophy characterized by progressive chorioretinal atrophy, myopia and early cataract." [Orphanet:414] subset: gard_rare subset: ordo_disease {source="Orphanet:414"} synonym: "Fuchs atrophia gyrata chorioideae et retinae" RELATED [GARD:0006556] synonym: "Fuchs gyrate atrophy" RELATED [MESH:C538071] synonym: "Fuchs gyrate atrophy of the choroid and retina" RELATED [MESH:C538071] synonym: "GACR" EXACT ABBREVIATION [MONDO:Lexical, OMIM:258870] synonym: "Girate atrophy of the retina" RELATED [GARD:0006556] synonym: "gyrate atrophy" EXACT [GARD:0006556, https://github.com/monarch-initiative/mondo/issues/724, OMIM:258870] synonym: "gyrate atrophy of choroid and retina" RELATED [MONDO:Lexical, OMIM:258870] synonym: "gyrate atrophy of choroid and retina with or without ornithinemia" EXACT [OMIM:258870, OMIM:genemap2] synonym: "gyrate atrophy of the choroid and/or retina" EXACT [DOID:1415] synonym: "gyrate atrophy of the retina" EXACT [DOID:1415] synonym: "hoga" EXACT [Orphanet:414] synonym: "hyperornithinemia" EXACT [Orphanet:414] synonym: "hyperornithinemia with gyrate atrophy of choroid and retina" RELATED [GARD:0006556, OMIM:258870] synonym: "hyperornithinemia-gyrate atrophy of choroid and retina syndrome" EXACT [GARD:0006556, Orphanet:414] synonym: "OAT deficiency" RELATED [GARD:0006556] synonym: "Oat deficiency" RELATED [OMIM:258870] synonym: "OKT deficiency" RELATED [GARD:0006556] synonym: "Okt deficiency" RELATED [OMIM:258870] synonym: "ornithine aminotransferase deficiency" EXACT [GARD:0006556, OMIM:258870, Orphanet:414] synonym: "ornithine Keto acid aminotransferase deficiency" RELATED [OMIM:258870] synonym: "ornithine ketoacid aminotransferase deficiency" RELATED [GARD:0006556] synonym: "ornithine-Delta-aminotransferase deficiency" RELATED [OMIM:258870] synonym: "Ornithinemia" RELATED [GARD:0007272] synonym: "Ornithinemia with gyrate atrophy" EXACT [DOID:1415] xref: DOID:1415 {source="MONDO:equivalentTo"} xref: MESH:C538071 {source="MONDO:relatedTo"} xref: MESH:D015799 {source="MONDO:equivalentTo", source="DOID:1415"} xref: NCIT:C84744 {source="MONDO:equivalentTo", source="DOID:1415"} xref: OMIM:258870 {source="GARD:0006556", source="Orphanet:414", source="MONDO:equivalentTo", source="Orphanet:414/e", source="DOID:1415"} xref: Orphanet:414 {source="GARD:0006556", source="OMIM:258870", source="MONDO:equivalentTo"} xref: UMLS:C0018425 {source="NCIT:C84744", source="Orphanet:414", source="MONDO:equivalentTo", source="DOID:1415"} is_a: MONDO:0001898 {source="DOID:1415", source="MESH:D015799"} ! optic choroid disorder is_a: MONDO:0017356 {source="Orphanet:414"} ! inborn disorder of ornithine metabolism is_a: MONDO:0019118 {source="Orphanet:414", source="https://orcid.org/0000-0001-5208-3432"} ! inherited retinal dystrophy is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy is_a: MONDO:0043218 ! neurovascular disorder property_value: exactMatch DOID:1415 property_value: exactMatch http://identifiers.org/mesh/D015799 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018425 property_value: exactMatch https://omim.org/entry/258870 property_value: exactMatch NCIT:C84744 property_value: exactMatch Orphanet:414 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6556/gyrate-atrophy-of-choroid-and-retina xsd:anyURI {source="GARD:0006556"} [Term] id: MONDO:0009797 name: orotic aciduria def: "An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine." [] subset: ordo_disease {source="Orphanet:30"} synonym: "hereditary orotic aciduria" RELATED [Orphanet:30] synonym: "OPRT and ODC deficiency" RELATED [OMIM:258900] synonym: "orotate phosphoribosyltransferase and OMP decarboxylase deficiency" RELATED [GARD:0005429] synonym: "orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency" RELATED [OMIM:258900] synonym: "orotic aciduria" EXACT [OMIM:258900] synonym: "orotic aciduria 1" RELATED [OMIM:258900] synonym: "orotic aciduria II (formerly)" RELATED [GARD:0005429] synonym: "orotic aciduria type 1" RELATED [GARD:0005429] synonym: "orotic aciduria without megaloblastic Anaemia" RELATED OMO:0003005 [] synonym: "orotic aciduria without megaloblastic Anemia" RELATED [OMIM:258900] synonym: "oroticaciduria" EXACT [Orphanet:30] synonym: "oroticaciduria 1" RELATED [GARD:0005429] synonym: "orotidylic decarboxylase deficiency" EXACT [Orphanet:30] synonym: "orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency" RELATED [OMIM:258900] synonym: "Ump synthase deficiency" RELATED [OMIM:258900] synonym: "UMP synthtase deficiency" RELATED [GARD:0005429] synonym: "UMPS" RELATED ABBREVIATION [GARD:0005429] synonym: "Umps deficiency" RELATED [OMIM:258900] synonym: "uridine monophosphate synthase deficiency" RELATED [OMIM:258900] synonym: "uridine monophosphate synthetase deficiency" EXACT [Orphanet:30] xref: DOID:0050833 {source="MONDO:equivalentTo"} xref: MedDRA:10052621 {source="Orphanet:30/e", source="Orphanet:30"} xref: NCIT:C98944 {source="MONDO:equivalentTo"} xref: OMIM:258900 {source="Orphanet:30/e", source="MONDO:equivalentTo", source="DOID:0050833", source="Orphanet:30"} xref: Orphanet:30 {source="MONDO:equivalentTo", source="OMIM:258900"} xref: SCTID:47641009 {source="MONDO:equivalentTo"} is_a: MONDO:0019238 {source="DOID:0050833", source="Orphanet:30"} ! inborn disorder of pyrimidine metabolism is_a: MONDO:0020112 {source="Orphanet:30"} ! vitamin B12- and folate-independent constitutional megaloblastic anemia property_value: closeMatch http://identifiers.org/meddra/10052621 property_value: exactMatch DOID:0050833 property_value: exactMatch http://identifiers.org/snomedct/47641009 property_value: exactMatch https://omim.org/entry/258900 property_value: exactMatch NCIT:C98944 property_value: exactMatch Orphanet:30 [Term] id: MONDO:0009798 name: Primrose syndrome def: "A rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy." [https://orcid.org/0000-0001-5208-3432, Orphanet:3042] subset: ordo_malformation_syndrome {source="Orphanet:3042"} synonym: "intellectual disability-cataracts-calcified pinnae-myopathy syndrome" EXACT [Orphanet:3042] synonym: "ossified EAR cartilages with mental deficiency, muscle wasting, and BONY changes" RELATED [OMIM:259050] synonym: "Primrose syndrome" EXACT [https://clinicalgenome.org/affiliation/40006/, OMIM:259050, Orphanet:3042] synonym: "PRIMS" RELATED ABBREVIATION [OMIM:259050] xref: MESH:C536420 {source="MONDO:equivalentTo"} xref: OMIM:259050 {source="Orphanet:3042/e", source="MONDO:equivalentTo", source="Orphanet:3042"} xref: Orphanet:3042 {source="MONDO:equivalentTo", source="OMIM:259050"} xref: SCTID:726709001 {source="MONDO:equivalentTo"} xref: UMLS:C0796121 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3042", source="OMIM:259050"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: exactMatch http://identifiers.org/mesh/C536420 property_value: exactMatch http://identifiers.org/snomedct/726709001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796121 property_value: exactMatch https://omim.org/entry/259050 property_value: exactMatch Orphanet:3042 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:3042"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6101 xsd:anyURI [Term] id: MONDO:0009801 name: familial osteodysplasia, Anderson type def: "Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982." [Orphanet:2769] subset: gard_rare {source="GARD:0004136"} subset: ordo_malformation_syndrome {source="Orphanet:2769"} synonym: "osteodysplasia familial Anderson type" RELATED [GARD:0004136] synonym: "osteodysplasia, familial, Anderson type" RELATED [OMIM:259250] xref: MESH:C564923 {source="MONDO:equivalentTo"} xref: OMIM:259250 {source="Orphanet:2769/e", source="MONDO:equivalentTo", source="Orphanet:2769"} xref: Orphanet:2769 {source="MONDO:equivalentTo", source="OMIM:259250"} xref: UMLS:C1850186 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2769", source="OMIM:259250"} is_a: MONDO:0018454 {source="MONDO:0019710-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin property_value: exactMatch http://identifiers.org/mesh/C564923 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850186 property_value: exactMatch https://omim.org/entry/259250 property_value: exactMatch Orphanet:2769 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4136/osteodysplasia-familial-anderson-type xsd:anyURI {source="GARD:0004136"} [Term] id: MONDO:0009803 name: congenital osteogenesis imperfecta-microcephaly-cataracts syndrome def: "Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome is characterized by multiple fractures in the prenatal period, microcephaly and bilateral cataracts. It has been described in three infants all of whom died in utero or a few hours after birth. The mode of inheritance appears to be autosomal recessive." [Orphanet:2772] subset: ordo_malformation_syndrome {source="Orphanet:2772"} synonym: "osteogenesis imperfecta congenita, microcephaly, and cataracts" RELATED [OMIM:259410] xref: ICD10CM:Q78.0 {source="Orphanet:2772/attributed", source="Orphanet:2772/ntbt", source="Orphanet:2772", source="MONDO:directSiblingOf"} xref: MESH:C537558 {source="Orphanet:2772", source="MONDO:equivalentTo", source="Orphanet:2772/e"} xref: OMIM:259410 {source="Orphanet:2772", source="MONDO:equivalentTo", source="Orphanet:2772/e"} xref: Orphanet:2772 {source="OMIM:259410", source="MONDO:equivalentTo"} xref: UMLS:C1850184 {source="Orphanet:2772", source="OMIM:259410", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2772/e"} is_a: EFO:0000508 {source="OMIM:259410"} ! genetic disorder relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch http://identifiers.org/mesh/C537558 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850184 property_value: exactMatch https://omim.org/entry/259410 property_value: exactMatch Orphanet:2772 property_value: excluded_subClassOf MONDO:0019704 {source="Orphanet:2772"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0009804 name: osteogenesis imperfecta type 3 def: "Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI)." [Orphanet:216812] subset: ordo_clinical_subtype {source="Orphanet:216812"} synonym: "OI type 3" EXACT [Orphanet:216812] synonym: "OI type III" RELATED [GARD:0008695] synonym: "OI, type 3" RELATED [OMIM:259420] synonym: "OI3" EXACT ABBREVIATION [DOID:0110339] synonym: "Oi3" RELATED [OMIM:259420] synonym: "osteogenesis imperfecta type 3" EXACT [] synonym: "osteogenesis imperfecta type III" EXACT [DOID:0110339] synonym: "osteogenesis imperfecta, progressively deforming with normal sclerae" RELATED [GARD:0008695] synonym: "osteogenesis imperfecta, progressively deforming, with normal sclerae" RELATED [OMIM:259420] synonym: "osteogenesis imperfecta, type 3" RELATED [OMIM:259420] synonym: "osteogenesis imperfecta, type III" RELATED [OMIM:259420] synonym: "progressive deforming osteogenesis imperfecta" EXACT [Orphanet:216812] synonym: "progressively deforming OI" RELATED [GARD:0008695] synonym: "progressively deforming osteogenesis imperfecta with normal sclera" EXACT [DOID:0110339] synonym: "severe osteogenesis imperfecta" EXACT [Orphanet:216812] xref: DOID:0110339 {source="MONDO:equivalentTo"} xref: MESH:C536044 {source="Orphanet:216812", source="MONDO:equivalentTo", source="Orphanet:216812/e"} xref: NCIT:C99002 {source="MONDO:equivalentTo"} xref: OMIM:259420 {source="DOID:0110339", source="Orphanet:216812", source="MONDO:equivalentTo", source="Orphanet:216812/e"} xref: Orphanet:216812 {source="OMIM:259420", source="MONDO:equivalentTo"} xref: SCTID:385483009 {source="MONDO:equivalentTo"} xref: UMLS:C0268362 {source="OMIM:259420", source="Orphanet:216812", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C99002", source="Orphanet:216812/e"} is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. property_value: exactMatch DOID:0110339 property_value: exactMatch http://identifiers.org/mesh/C536044 property_value: exactMatch http://identifiers.org/snomedct/385483009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268362 property_value: exactMatch https://omim.org/entry/259420 property_value: exactMatch NCIT:C99002 property_value: exactMatch Orphanet:216812 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0009810 name: autosomal recessive distal osteolysis syndrome def: "Autosomal recessive distal osteolysis syndrome is an early-onset distal osteolysis characterized by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait." [Orphanet:2776] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2776"} synonym: "distal osteolysis-short stature-intellectual disability syndrome" EXACT [Orphanet:2776] synonym: "osteolysis syndrome recessive" RELATED [GARD:0004144] synonym: "osteolysis syndrome, recessive" RELATED [OMIM:259610] synonym: "osteolysis, distal, with short stature, intellectual disability, and characteristic Facial appearance" RELATED [OMIM:259610] synonym: "osteolysis, distal, with short stature, intellectual disability, and characteristic facial appearance" RELATED [GARD:0004144] synonym: "osteolysis, distal, with short stature, mental retardation, and characteristic Facial appearance" RELATED DEPRECATED [OMIM:259610] synonym: "osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance" RELATED DEPRECATED [GARD:0004144] synonym: "Petit-Fryns syndrome" EXACT [Orphanet:2776] xref: MESH:C536052 {source="MONDO:equivalentTo"} xref: OMIM:259610 {source="MONDO:equivalentTo", source="Orphanet:2776", source="Orphanet:2776/e", source="GARD:0004144"} xref: Orphanet:2776 {source="MONDO:equivalentTo", source="OMIM:259610"} xref: SCTID:715487005 {source="MONDO:equivalentTo"} xref: UMLS:C1850143 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:259610", source="GARD:0004144"} xref: UMLS:C4275111 {source="MONDO:equivalentTo"} is_a: MONDO:0019707 {source="Orphanet:2776"} ! primary osteolysis property_value: exactMatch http://identifiers.org/mesh/C536052 property_value: exactMatch http://identifiers.org/snomedct/715487005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850143 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275111 property_value: exactMatch https://omim.org/entry/259610 property_value: exactMatch Orphanet:2776 [Term] id: MONDO:0009814 name: osteopenia-intellectual disability-sparse hair syndrome def: "Kaler-Garrity-Stern syndrome is a rare syndrome, described in two sisters of Mennonite descent, characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992." [Orphanet:2324] subset: ordo_malformation_syndrome {source="Orphanet:2324"} synonym: "Kaler Garrity Stern syndrome" RELATED [GARD:0000354] synonym: "Kaler-Garrity-Stern syndrome" EXACT [Orphanet:2324] synonym: "osteopenia and sparse hair" RELATED [OMIM:259690] synonym: "osteopenia intellectual disability sparse hair" RELATED [GARD:0000354] synonym: "osteopenia mental retardation sparse hair" RELATED DEPRECATED [GARD:0000354] xref: MESH:C537706 {source="Orphanet:2324", source="MONDO:equivalentTo", source="Orphanet:2324/e"} xref: OMIM:259690 {source="Orphanet:2324", source="MONDO:equivalentTo", source="Orphanet:2324/e"} xref: Orphanet:2324 {source="MONDO:equivalentTo", source="OMIM:259690"} xref: SCTID:732954002 {source="MONDO:equivalentTo"} xref: UMLS:C1850140 {source="Orphanet:2324", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2324/e", source="OMIM:259690"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: exactMatch http://identifiers.org/mesh/C537706 property_value: exactMatch http://identifiers.org/snomedct/732954002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850140 property_value: exactMatch https://omim.org/entry/259690 property_value: exactMatch Orphanet:2324 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:2324"} property_value: excluded_subClassOf MONDO:0019704 {source="Orphanet:2324"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0009815 name: autosomal recessive osteopetrosis 1 def: "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0002579"} synonym: "Albers-Schonberg disease, autosomal recessive" RELATED [OMIM:259700] synonym: "autosomal recessive Albers-Schonberg disease" EXACT [DOID:0110942] synonym: "autosomal recessive malignant osteopetrosis caused by mutation in TCIRG1" EXACT [MONDO:design_pattern] synonym: "autosomal recessive osteopetrosis 1" EXACT [] synonym: "autosomal recessive osteopetrosis caused by mutation in TCIRG1" EXACT [] synonym: "autosomal recessive osteopetrosis type 1" EXACT [DOID:0110942, MONDORULE:1] synonym: "infantile malignant osteopetrosis 1" EXACT [DOID:0110942] synonym: "marble bones autosomal recessive" RELATED [GARD:0002579] synonym: "marble bones, autosomal recessive" RELATED [OMIM:259700] synonym: "OPTB1" EXACT ABBREVIATION [DOID:0110942, MONDO:Lexical, OMIM:259700] synonym: "osteopetrosis autosomal recessive 1" RELATED [GARD:0002579] synonym: "osteopetrosis infantile malignant 1" RELATED [GARD:0002579] synonym: "osteopetrosis, autosomal recessive 1" RELATED [MONDO:Lexical, OMIM:259700] synonym: "osteopetrosis, autosomal recessive type 1" EXACT [MONDORULE:1, OMIM:259700] synonym: "osteopetrosis, infantile malignant 1" RELATED [OMIM:259700] synonym: "TCIRG1 autosomal recessive malignant osteopetrosis" EXACT [MONDO:design_pattern] synonym: "TCIRG1 autosomal recessive osteopetrosis" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0110942 {source="MONDO:equivalentTo"} xref: MESH:C564915 {source="MONDO:equivalentTo"} xref: NCIT:C167215 {source="MONDO:equivalentTo"} xref: OMIM:259700 {source="DOID:0110942", source="MONDO:equivalentTo"} is_a: MONDO:0019026 {source="MONDO:Redundant", source="Orphanet:667/btnt"} ! autosomal recessive osteopetrosis property_value: exactMatch DOID:0110942 property_value: exactMatch http://identifiers.org/mesh/C564915 property_value: exactMatch https://omim.org/entry/259700 property_value: exactMatch NCIT:C167215 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2579/osteopetrosis-autosomal-recessive-1 xsd:anyURI {source="GARD:0002579"} [Term] id: MONDO:0009816 name: autosomal recessive osteopetrosis 2 def: "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFSF11 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0004157"} synonym: "autosomal recessive malignant osteopetrosis caused by mutation in TNFSF11" EXACT [MONDO:design_pattern] synonym: "autosomal recessive osteopetrosis caused by mutation in TNFSF11" EXACT [] synonym: "autosomal recessive osteopetrosis type 2" EXACT [DOID:0110943, MONDORULE:1] synonym: "mild autosomal recessive form osteopetrosis" EXACT [DOID:0110943] synonym: "OPTB2" EXACT ABBREVIATION [DOID:0110943, MONDO:Lexical, OMIM:259710] synonym: "osteoclast-poor osteopetrosis" EXACT [DOID:0110943] synonym: "osteopetrosis autosomal recessive 2" RELATED [GARD:0004157] synonym: "osteopetrosis osteoclast-poor" RELATED [GARD:0004157] synonym: "osteopetrosis, autosomal recessive 2" RELATED [MONDO:Lexical, OMIM:259710] synonym: "osteopetrosis, autosomal recessive type 2" EXACT [MONDORULE:1, OMIM:259710] synonym: "osteopetrosis, mild autosomal recessive form" RELATED [OMIM:259710] synonym: "osteopetrosis, osteoclast-poor" RELATED [OMIM:259710] synonym: "TNFSF11 autosomal recessive malignant osteopetrosis" EXACT [MONDO:design_pattern] synonym: "TNFSF11 autosomal recessive osteopetrosis" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0110943 {source="MONDO:equivalentTo"} xref: MESH:C536059 {source="MONDO:equivalentTo"} xref: OMIM:259710 {source="DOID:0110943", source="MONDO:equivalentTo"} is_a: MONDO:0019026 {source="MONDO:Redundant", source="Orphanet:667/btnt"} ! autosomal recessive osteopetrosis property_value: exactMatch DOID:0110943 property_value: exactMatch http://identifiers.org/mesh/C536059 property_value: exactMatch https://omim.org/entry/259710 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4157/osteopetrosis-autosomal-recessive-2 xsd:anyURI {source="GARD:0004157"} [Term] id: MONDO:0009818 name: autosomal recessive osteopetrosis 3 def: "Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications." [Orphanet:2785] subset: gard_rare {source="GARD:0004154"} subset: ordo_disease {source="Orphanet:2785"} synonym: "autosomal recessive osteopetrosis 3 with renal tubular acidosis" EXACT [DOID:0110941] synonym: "autosomal recessive osteopetrosis type 3" EXACT [DOID:0110941, MONDORULE:1] synonym: "Autosomal Recessive osteopetrosis, type 3" EXACT [NCIT:C118438] synonym: "CA2 osteopetrosis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "carbonic anhydrase 2 deficiency" EXACT [Orphanet:2785] synonym: "carbonic anhydrase II deficiency" EXACT [DOID:0110941] synonym: "Guibaud Vainsel syndrome" RELATED [GARD:0004154] synonym: "Guibaud-Vainsel syndrome" EXACT [DOID:0110941, Orphanet:2785] synonym: "marble brain disease" EXACT [DOID:0110941, Orphanet:2785] synonym: "mixed renal tubular acidosis" EXACT [Orphanet:2785] synonym: "mixed RTA" EXACT [Orphanet:2785] synonym: "OPTB3" EXACT ABBREVIATION [DOID:0110941, MONDO:Lexical, OMIM:259730] synonym: "osteopetrosis (disease) caused by mutation in CA2" EXACT [] synonym: "osteopetrosis autosomal recessive 3" RELATED [GARD:0004154] synonym: "osteopetrosis with renal tubular acidosis" EXACT [DOID:0110941, OMIM:259730] synonym: "osteopetrosis, autosomal recessive 3" RELATED [MONDO:Lexical, OMIM:259730] synonym: "osteopetrosis, autosomal recessive 3, with renal tubular acidosis" EXACT [OMIM:259730, OMIM:genemap2] synonym: "osteopetrosis, autosomal recessive type 3" EXACT [MONDORULE:1, OMIM:259730] synonym: "renal tubular acidosis type 3" EXACT [Orphanet:2785] xref: DOID:0110941 {source="MONDO:equivalentTo"} xref: ICD9:588.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536058 {source="Orphanet:2785", source="MONDO:equivalentTo", source="Orphanet:2785/e"} xref: NCIT:C118438 {source="MONDO:equivalentTo"} xref: OMIM:259730 {source="DOID:0110941", source="Orphanet:2785", source="MONDO:equivalentTo", source="Orphanet:2785/e"} xref: Orphanet:2785 {source="OMIM:259730", source="MONDO:equivalentTo"} xref: SCTID:254122007 {source="MONDO:equivalentTo"} is_a: MONDO:0017828 {source="Orphanet:2785"} ! primary renal tubular acidosis is_a: MONDO:0019026 ! autosomal recessive osteopetrosis property_value: exactMatch DOID:0110941 property_value: exactMatch http://identifiers.org/mesh/C536058 property_value: exactMatch http://identifiers.org/snomedct/254122007 property_value: exactMatch https://omim.org/entry/259730 property_value: exactMatch NCIT:C118438 property_value: exactMatch Orphanet:2785 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4154/osteopetrosis-autosomal-recessive-3 xsd:anyURI {source="GARD:0004154"} [Term] id: MONDO:0009820 name: osteoporosis-pseudoglioma syndrome def: "Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures." [Orphanet:2788] subset: gard_rare {source="GARD:0004160"} subset: ordo_disease {source="Orphanet:2788"} synonym: "ocular form of osteogenesis imperfecta" EXACT [DOID:0060849, Orphanet:2788] synonym: "OPPG" EXACT ABBREVIATION [DOID:0060849, MONDO:Lexical, OMIM:259770, Orphanet:2788] synonym: "Ops" RELATED [OMIM:259770] synonym: "osteogenesis imperfecta ocular form" RELATED [GARD:0004160] synonym: "osteogenesis imperfecta, ocular form" RELATED [OMIM:259770] synonym: "osteoporosis pseudoglioma syndrome" RELATED [GARD:0004160] synonym: "osteoporosis-pseudoglioma syndrome" EXACT [MONDO:Lexical, OMIM:259770] synonym: "pseudoglioma with bone fragility" RELATED [GARD:0004160] xref: DOID:0060849 {source="MONDO:equivalentTo"} xref: MedDRA:10052452 {source="Orphanet:2788", source="Orphanet:2788/e"} xref: MESH:C536063 {source="MONDO:equivalentTo", source="Orphanet:2788", source="Orphanet:2788/e", source="DOID:0060849"} xref: NCIT:C130998 {source="MONDO:equivalentTo"} xref: OMIM:259770 {source="MONDO:equivalentTo", source="Orphanet:2788", source="Orphanet:2788/e", source="DOID:0060849"} xref: Orphanet:2788 {source="OMIM:259770", source="MONDO:equivalentTo", source="DOID:0060849"} xref: UMLS:C0432252 {source="OMIM:259770", source="NCIT:C130998", source="MONDO:equivalentTo", source="Orphanet:2788", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2788/e", source="DOID:0060849"} is_a: EFO:1000017 {source="DOID:0060849", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C130998"} ! syndromic disease is_a: MONDO:0020247 {source="Orphanet:2788"} ! congenital vitreoretinal dysplasia is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. property_value: closeMatch http://identifiers.org/meddra/10052452 property_value: exactMatch DOID:0060849 property_value: exactMatch http://identifiers.org/mesh/C536063 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432252 property_value: exactMatch https://omim.org/entry/259770 property_value: exactMatch NCIT:C130998 property_value: exactMatch Orphanet:2788 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:2788"} property_value: excluded_subClassOf MONDO:0019704 {source="Orphanet:2788"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4160/osteoporosis-pseudoglioma-syndrome xsd:anyURI {source="GARD:0004160"} [Term] id: MONDO:0009821 name: lethal osteosclerotic bone dysplasia def: "Generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course." [Orphanet:1832] subset: ordo_malformation_syndrome {source="Orphanet:1832"} synonym: "combination of microcephaly, exophthalmos, hypoplastic nose and midface, gum hyperplasia, cleft palate, apparently low-set ears, and osteosclerosis" RELATED [GARD:0000282] synonym: "lethal osteosclerotic bone dysplasia" EXACT [] synonym: "osteomalacia, sclerosing, with cerebral calcification" EXACT [OMIM:259660] synonym: "osteosclerotic bone dysplasia, lethal" EXACT [OMIM:259775] synonym: "RAINE syndrome" EXACT [MONDO:Lexical, OMIM:259775] synonym: "Raine syndrome" EXACT [Orphanet:1832] synonym: "RNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:259775] xref: MESH:C535282 {source="MONDO:equivalentTo"} xref: MESH:C564916 {source="MONDO:equivalentTo"} xref: OMIM:259660 {source="MONDO:equivalentObsolete"} xref: OMIM:259775 {source="MONDO:equivalentTo", source="Orphanet:1832", source="Orphanet:1832/e"} xref: Orphanet:1832 {source="MONDO:equivalentTo", source="OMIM:259775"} xref: UMLS:C1850106 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:259775", source="Orphanet:1832", source="Orphanet:1832/e"} xref: UMLS:C1850141 {source="OMIM:259660", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019702 {source="Orphanet:1832", source="PMID:31633310"} ! neonatal osteosclerotic dysplasia property_value: exactMatch http://identifiers.org/mesh/C535282 property_value: exactMatch http://identifiers.org/mesh/C564916 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850106 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850141 property_value: exactMatch https://omim.org/entry/259775 property_value: exactMatch Orphanet:1832 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4966 xsd:anyURI [Term] id: MONDO:0009823 name: primary hyperoxaluria type 1 def: "A rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." [Orphanet:93598] subset: gard_rare {source="GARD:0002835"} subset: ordo_clinical_subtype {source="Orphanet:93598"} synonym: "AGXT primary hyperoxaluria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "alanine-glyoxylate aminotransferase deficiency" RELATED [OMIM:259900] synonym: "glycolic aciduria" EXACT [OMIM:259900, Orphanet:93598] synonym: "hepatic AGT deficiency" RELATED [OMIM:259900] synonym: "HP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:259900] synonym: "hyperoxaluria, primary, type 1" RELATED [OMIM:259900] synonym: "hyperoxaluria, primary, type I" RELATED [MONDO:Lexical, OMIM:259900] synonym: "Oxalosis 1" RELATED [OMIM:259900] synonym: "peroxisomal alanine glyoxylate aminotransferase deficiency" RELATED [GARD:0002835] synonym: "peroxisomal alanine-glyoxylate aminotransferase deficiency" EXACT [Orphanet:93598] synonym: "peroxisomal alanine:glyoxylate aminotransferase deficiency" RELATED [OMIM:259900] synonym: "PH1" EXACT ABBREVIATION [Orphanet:93598] synonym: "primary hyperoxaluria caused by mutation in AGXT" EXACT [MONDO:design_pattern] synonym: "primary hyperoxaluria type 1" EXACT [] synonym: "primary hyperoxaluria type I" EXACT [NCIT:C123212, PMID:16756494] synonym: "serine pyruvate aminotransferase deficiency" RELATED [GARD:0002835] synonym: "serine:pyruvate aminotransferase deficiency" RELATED [OMIM:259900] xref: DOID:0111670 {source="MONDO:equivalentTo"} xref: ICD9:271.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536414 {source="MONDO:equivalentTo", source="Orphanet:93598", source="Orphanet:93598/e"} xref: NCIT:C123212 {source="MONDO:equivalentTo"} xref: OMIM:259900 {source="MONDO:equivalentTo", source="Orphanet:93598", source="Orphanet:93598/e"} xref: Orphanet:93598 {source="MONDO:equivalentTo", source="OMIM:259900"} xref: SCTID:65520001 {source="MONDO:equivalentTo"} xref: UMLS:C0268164 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:93598", source="NCIT:C123212", source="OMIM:259900", source="Orphanet:93598/e"} is_a: MONDO:0002474 {source="DC-OMIM:259900", source="MESH:C536414", source="MONDO:Redundant", source="NCIT:C123212", source="OMIM:259900", source="Orphanet:93598"} ! primary hyperoxaluria is_a: MONDO:0100278 {source="PMID:16756494", source="https://www.clinicalgenome.org/affiliation/40049/"} ! alanine glyoxylate aminotransferase deficiency property_value: exactMatch DOID:0111670 property_value: exactMatch http://identifiers.org/mesh/C536414 property_value: exactMatch http://identifiers.org/snomedct/65520001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268164 property_value: exactMatch https://omim.org/entry/259900 property_value: exactMatch NCIT:C123212 property_value: exactMatch Orphanet:93598 property_value: excluded_subClassOf MONDO:0017753 {source="Orphanet:93598"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2835/primary-hyperoxaluria-type-1 xsd:anyURI {source="GARD:0002835"} [Term] id: MONDO:0009824 name: primary hyperoxaluria type 2 def: "Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis." [Orphanet:93599] subset: gard_rare {source="GARD:0002836"} subset: ordo_clinical_subtype {source="Orphanet:93599"} synonym: "D-glycerate dehydrogenase deficiency" EXACT [OMIM:260000, Orphanet:93599] synonym: "glyceric aciduria" RELATED [OMIM:260000] synonym: "glyoxylate reductase/hydroxypyruvate reductase deficiency" RELATED [OMIM:260000] synonym: "GRHPR primary hyperoxaluria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "HP2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:260000] synonym: "hyperoxaluria, primary, type 2" RELATED [OMIM:260000] synonym: "hyperoxaluria, primary, type II" RELATED [MONDO:Lexical, OMIM:260000] synonym: "L-glyceric aciduria" EXACT [Orphanet:93599] synonym: "Oxalosis 2" RELATED [OMIM:260000] synonym: "primary hyperoxaluria caused by mutation in GRHPR" EXACT [MONDO:design_pattern] synonym: "primary hyperoxaluria type 2" EXACT [] synonym: "primary hyperoxaluria type II" EXACT [NCIT:C123213] xref: DOID:0111671 {source="MONDO:equivalentTo"} xref: ICD9:271.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536415 {source="MONDO:equivalentTo"} xref: NCIT:C123213 {source="MONDO:equivalentTo"} xref: OMIM:260000 {source="MONDO:equivalentTo", source="Orphanet:93599", source="Orphanet:93599/e"} xref: Orphanet:93599 {source="MONDO:equivalentTo", source="OMIM:260000"} xref: SCTID:40951006 {source="MONDO:equivalentTo"} xref: UMLS:C0268165 {source="MONDO:equivalentTo", source="Orphanet:93599", source="MONDO:ncbi_mim2gene_medline", source="OMIM:260000", source="NCIT:C123213"} is_a: MONDO:0002474 {source="DC-OMIM:260000", source="MESH:C536415", source="MONDO:Redundant", source="NCIT:C123213", source="OMIM:260000", source="Orphanet:93599"} ! primary hyperoxaluria property_value: exactMatch DOID:0111671 property_value: exactMatch http://identifiers.org/mesh/C536415 property_value: exactMatch http://identifiers.org/snomedct/40951006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268165 property_value: exactMatch https://omim.org/entry/260000 property_value: exactMatch NCIT:C123213 property_value: exactMatch Orphanet:93599 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2836/primary-hyperoxaluria-type-2 xsd:anyURI {source="GARD:0002836"} [Term] id: MONDO:0009825 name: 5-oxoprolinase deficiency def: "5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria." [Orphanet:33572] subset: ordo_disease {source="Orphanet:33572"} synonym: "5-alpha-oxoprolinase deficiency" RELATED [GARD:0005681] synonym: "5-oxoprolinase deficiency" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:260005] synonym: "5-oxoprolinase deficiency (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "inborn 5-oxoprolinase (ATP-hydrolyzing) activity disorder" EXACT [] synonym: "inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity" EXACT [MONDO:patterns/inborn_metabolic] synonym: "OPLAHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:260005] synonym: "oxoprolinuria due to 5-oxoprolinase deficiency" RELATED [OMIM:260005] synonym: "oxoprolinuria due to oxoprolinase deficiency" EXACT [Orphanet:33572] synonym: "rare inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity" EXACT [MONDO:patterns/inborn_metabolic] xref: HP:0040142 {source="MONDO:otherHierarchy"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535322 {source="Orphanet:33572/e", source="MONDO:equivalentTo", source="Orphanet:33572"} xref: OMIM:260005 {source="Orphanet:33572/e", source="MONDO:equivalentTo", source="Orphanet:33572"} xref: Orphanet:33572 {source="OMIM:260005", source="MONDO:equivalentTo"} xref: SCTID:26132002 {source="MONDO:equivalentTo"} xref: UMLS:C0268525 {source="OMIM:260005", source="Orphanet:33572/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:33572"} is_a: MONDO:0040566 {source="PMID:33340416"} ! inherited glutathione metabolism disease property_value: exactMatch http://identifiers.org/mesh/C535322 property_value: exactMatch http://identifiers.org/snomedct/26132002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268525 property_value: exactMatch https://omim.org/entry/260005 property_value: exactMatch Orphanet:33572 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: IAO:0000589 "5-oxoprolinase deficiency (disease)" xsd:string [Term] id: MONDO:0009830 name: parkinsonian-pyramidal syndrome def: "A Parkinson's disease that has material basis in mutation in the FBXO7 gene on chromosome 22q12.3." [DOID:0060372, PMID:22315721] subset: ordo_disease {source="Orphanet:171695"} synonym: "autosomal recessive early-onset Parkinson disease 15" EXACT [DOID:0060372] synonym: "autosomal recessive early-onset Parkinson disease type 15" EXACT [DOID:0060372, MONDORULE:2] synonym: "autosomal recessive early-onset Parkinson's disease 15" RELATED [DOID:0060372] synonym: "pallido-pyramidal disease" RELATED [GARD:0009175] synonym: "pallido-pyramidal syndrome" RELATED [OMIM:260300] synonym: "Pallidopyramidal syndrome" EXACT [OMIM:260300, Orphanet:171695] synonym: "pallidopyramidal syndrome" EXACT [DOID:0060372] synonym: "PARK15" RELATED ABBREVIATION [MONDO:Lexical, OMIM:260300] synonym: "Parkinson disease 15, autosomal recessive" EXACT [OMIM:260300, OMIM:genemap2] synonym: "Parkinson disease 15, autosomal recessive early-onset" RELATED [MONDO:Lexical, OMIM:260300] synonym: "parkinsonian-pyramidal syndrome" EXACT [DOID:0060372, OMIM:260300] xref: DOID:0060372 {source="MONDO:equivalentTo"} xref: MESH:C538104 {source="MONDO:equivalentTo"} xref: OMIM:260300 {source="MONDO:equivalentTo", source="Orphanet:171695", source="DOID:0060372", source="Orphanet:171695/e"} xref: Orphanet:171695 {source="MONDO:equivalentTo", source="OMIM:260300"} xref: UMLS:C1850100 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:171695", source="OMIM:260300"} is_a: MONDO:0005180 {source="DOID:0060372/inferred", source="MONDO:Redundant", source="OMIM:260300"} ! Parkinson disease relationship: predisposes_towards MONDO:0017279 {source="DOID:0060372"} ! young-onset Parkinson disease property_value: exactMatch DOID:0060372 property_value: exactMatch http://identifiers.org/mesh/C538104 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850100 property_value: exactMatch https://omim.org/entry/260300 property_value: exactMatch Orphanet:171695 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009832 name: pancreatic agenesis def: "Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue." [Orphanet:2805] subset: ordo_morphological_anomaly {source="Orphanet:2805"} subset: prototype_pattern synonym: "congenital pancreatic agenesis" EXACT [Orphanet:2805] synonym: "PAGEN1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:260370] synonym: "pancreatic agenesis 1" RELATED [MONDO:Lexical, OMIM:260370] synonym: "pancreatic agenesis type 1" EXACT [MONDORULE:1, OMIM:260370] synonym: "partial agenesis of the pancreas" EXACT [Orphanet:2805] synonym: "partial pancreatic agenesis" EXACT [DOID:0050877] xref: DOID:0050877 {source="MONDO:equivalentTo"} xref: MESH:C564908 {source="MONDO:equivalentTo"} xref: OMIMPS:260370 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:2805 {source="MONDO:equivalentTo", source="OMIM:260370"} xref: SCTID:719044008 {source="MONDO:equivalentTo"} xref: UMLS:C1850096 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0015213 {source="Orphanet:2805"} ! non-syndromic visceral malformation property_value: exactMatch DOID:0050877 property_value: exactMatch http://identifiers.org/mesh/C564908 property_value: exactMatch http://identifiers.org/snomedct/719044008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850096 property_value: exactMatch https://omim.org/phenotypicSeries/PS260370 property_value: exactMatch Orphanet:2805 [Term] id: MONDO:0009833 name: Shwachman-Diamond syndrome def: "Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." [Orphanet:811] subset: gard_rare {source="GARD:0004863"} subset: ordo_disease {source="Orphanet:811"} synonym: "congenital lipomatosis of pancreas" RELATED [GARD:0004863] synonym: "lipomatosis of pancreas, congenital" RELATED [OMIM:260400] synonym: "pancreatic insufficiency and bone marrow dysfunction" EXACT [DOID:0060479, Orphanet:811] synonym: "Schwachman-Diamond syndrome" EXACT [OMIMPS:260400] synonym: "Schwachmann-Diamond syndrome" EXACT [NCIT:C61235] synonym: "SDS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:260400, Orphanet:811] synonym: "Shwachman syndrome" EXACT [DOID:0060479, Orphanet:811] synonym: "Shwachman-Bodian syndrome" RELATED [OMIM:260400] synonym: "Shwachman-Bodian-Diamond syndrome" EXACT [DOID:0060479, Orphanet:811] synonym: "Shwachman-Diamond syndrome" EXACT [MONDO:Lexical, OMIM:260400] synonym: "Shwachman-Diamond type metaphyseal dysplasia" RELATED [DOID:0080023] xref: DOID:0060479 {source="MONDO:equivalentTo"} xref: DOID:0080023 {source="MONDO:equivalentObsolete"} xref: MedDRA:10067940 {source="Orphanet:811", source="Orphanet:811/e"} xref: MESH:C537330 {source="DOID:0060479", source="MONDO:equivalentTo"} xref: NCIT:C61235 {source="MONDO:equivalentTo"} xref: OMIMPS:260400 {source="MONDO:equivalentTo"} xref: Orphanet:811 {source="MONDO:equivalentTo", source="OMIM:260400"} xref: SCTID:89454001 {source="MONDO:equivalentTo"} is_a: EFO:1000017 {source="Wikipedia:Shwachman%E2%80%93Diamond_syndrome#Genetics"} ! autosomal recessive disease is_a: MONDO:0002254 {source="https://github.com/monarch-initiative/mondo/issues/859"} ! syndromic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015112", source="MONDO:0015618"} ! rare property_value: closeMatch http://identifiers.org/meddra/10067940 property_value: exactMatch DOID:0060479 property_value: exactMatch http://identifiers.org/mesh/C537330 property_value: exactMatch http://identifiers.org/snomedct/89454001 property_value: exactMatch https://omim.org/phenotypicSeries/PS260400 property_value: exactMatch NCIT:C61235 property_value: exactMatch Orphanet:811 property_value: excluded_subClassOf MONDO:0000841 {source="DOID:0080023"} property_value: excluded_subClassOf MONDO:0001713 {source="Orphanet:811"} property_value: excluded_subClassOf MONDO:0002356 {source="MONDO:Redundant", source="Orphanet:811"} property_value: excluded_subClassOf MONDO:0015945 {source="Orphanet:811"} property_value: excluded_subClassOf MONDO:0015978 {source="Orphanet:811"} property_value: excluded_subClassOf MONDO:0019693 {source="Orphanet:811"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4863/shwachman-diamond-syndrome xsd:anyURI {source="GARD:0004863"} [Term] id: MONDO:0009838 name: Parana hard-skin syndrome def: "A rare disorder characterized by rigid, thick skin that covers the entire body and affects movements. The movement of the chest and abdomen is severely restricted. Affected individuals develop respiratory insufficiency which may lead to death." [NCIT:C126559] subset: ordo_disease {source="Orphanet:2812"} synonym: "hard skin syndrome Parana type" EXACT [NCIT:C126559] synonym: "hard skin syndrome, Parana type" EXACT [Orphanet:2812] synonym: "hard-skin syndrome, Parana type" EXACT [Orphanet:2812] synonym: "Parana hard skin syndrome" RELATED [Orphanet:2812] synonym: "Parana hard-skin syndrome" EXACT [OMIM:260530] xref: MESH:C564905 {source="MONDO:equivalentTo"} xref: NCIT:C126559 {source="MONDO:equivalentTo"} xref: OMIM:260530 {source="MONDO:equivalentTo", source="Orphanet:2812", source="Orphanet:2812/e"} xref: Orphanet:2812 {source="MONDO:equivalentTo", source="OMIM:260530"} xref: UMLS:C1850079 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2812", source="OMIM:260530", source="NCIT:C126559"} is_a: EFO:0000701 {source="Orphanet:2812", source="https://orcid.org/0000-0001-5208-3432"} ! skin disease is_a: MONDO:0002254 {source="NCIT:C126559"} ! syndromic disease property_value: exactMatch http://identifiers.org/mesh/C564905 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850079 property_value: exactMatch https://omim.org/entry/260530 property_value: exactMatch NCIT:C126559 property_value: exactMatch Orphanet:2812 [Term] id: MONDO:0009839 name: progressive supranuclear palsy-parkinsonism syndrome def: "PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease." [Orphanet:240085] subset: ordo_clinical_subtype {source="Orphanet:240085"} synonym: "atypical PSP" RELATED [GARD:0004507] synonym: "Parkinson-dementia syndrome" RELATED [OMIM:260540] synonym: "progressive supranuclear palsy atypical" RELATED [GARD:0004507] synonym: "PSP-p" EXACT [Orphanet:240085] synonym: "PSP-parkinsonism" EXACT [Orphanet:240085] synonym: "Steele-Richardson-Olszewski syndrome, atypical" RELATED [OMIM:260540] synonym: "supranuclear palsy, progressive atypical" EXACT [OMIM:260540, OMIM:genemap2] synonym: "supranuclear palsy, progressive, 1, atypical" RELATED [OMIM:260540] xref: MESH:C537240 {source="MONDO:equivalentTo"} xref: OMIM:260540 {source="Orphanet:240085", source="MONDO:equivalentTo", source="Orphanet:240085/e"} xref: Orphanet:240085 {source="MONDO:equivalentTo", source="OMIM:260540"} xref: UMLS:CN201680 {source="MONDO:equivalentTo"} is_a: MONDO:0020488 {source="Orphanet:240085"} ! atypical progressive supranuclear palsy syndrome property_value: exactMatch http://identifiers.org/mesh/C537240 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201680 property_value: exactMatch https://omim.org/entry/260540 property_value: exactMatch Orphanet:240085 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009841 name: PEHO syndrome def: "PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies." [Orphanet:2836] subset: gard_rare {source="GARD:0004264"} subset: ordo_disease {source="Orphanet:2836"} synonym: "infantile Cerebellooptic atrophy" RELATED [OMIM:260565] synonym: "peho" RELATED [OMIM:260565] synonym: "peho syndrome" EXACT [OMIM:260565] synonym: "peho-like syndrome" RELATED [OMIM:260565] synonym: "progressive encephalopathy with edema, hypsarrhythmia and optic atrophy" EXACT [Orphanet:2836] synonym: "progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy" RELATED [OMIM:260565] synonym: "progressive encephalopathy-optic atrophy syndrome" EXACT [Orphanet:2836] xref: DOID:0080539 {source="MONDO:equivalentTo"} xref: MESH:C536317 {source="Orphanet:2836/e", source="MONDO:equivalentTo", source="Orphanet:2836"} xref: OMIM:260565 {source="Orphanet:2836/e", source="MONDO:equivalentTo", source="Orphanet:2836"} xref: Orphanet:2836 {source="MONDO:equivalentTo", source="OMIM:260565"} xref: UMLS:C1850055 {source="Orphanet:2836/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2836", source="OMIM:260565"} is_a: MONDO:0019313 ! lymphatic malformation is_a: MONDO:0019520 {source="Orphanet:2836"} ! syndromic lymphedema is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:2836"} ! inherited neurodegenerative disorder is_a: MONDO:0043218 ! neurovascular disorder property_value: exactMatch DOID:0080539 property_value: exactMatch http://identifiers.org/mesh/C536317 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850055 property_value: exactMatch https://omim.org/entry/260565 property_value: exactMatch Orphanet:2836 property_value: excluded_subClassOf MONDO:0015650 {source="Orphanet:2836"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4264/peho-syndrome xsd:anyURI {source="GARD:0004264"} [Term] id: MONDO:0009843 name: hypomyelinating leukodystrophy 3 def: "Any leukodystrophy in which the cause of the disease is a mutation in the AIMP1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0004266"} subset: ordo_clinical_subtype {source="Orphanet:280293"} synonym: "AIMP1 leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "HLD3" EXACT ABBREVIATION [DOID:0060790, MONDO:Lexical, OMIM:260600] synonym: "hypomyelinating leukodystrophy 3" EXACT [] synonym: "hypomyelinating leukodystrophy type 3" EXACT [DOID:0060790, MONDORULE:1] synonym: "leukodystrophy caused by mutation in AIMP1" EXACT [MONDO:design_pattern] synonym: "leukodystrophy, hypomyelinating 3" RELATED [GARD:0004266] synonym: "leukodystrophy, hypomyelinating, 3" RELATED [MONDO:Lexical, OMIM:260600] synonym: "leukodystrophy, hypomyelinating, type 3" EXACT [MONDORULE:1, OMIM:260600] synonym: "Pelizaeus-Merzbacher-like disease due to AIMP1 mutation" EXACT [DOID:0060790] synonym: "perinatal Sudanophilic leukodystrophy" RELATED [GARD:0004266] xref: DOID:0060790 {source="MONDO:equivalentTo"} xref: MESH:C536319 {source="MONDO:equivalentTo"} xref: OMIM:260600 {source="Orphanet:280293", source="MONDO:equivalentTo", source="Orphanet:280293/e", source="DOID:0060790"} xref: Orphanet:280293 {source="OMIM:260600", source="MONDO:equivalentTo", source="DOID:0060790"} xref: UMLS:C1850053 {source="OMIM:260600", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0017226 {source="Orphanet:280293"} ! Pelizaeus-Merzbacher-like disease property_value: exactMatch DOID:0060790 property_value: exactMatch http://identifiers.org/mesh/C536319 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850053 property_value: exactMatch https://omim.org/entry/260600 property_value: exactMatch Orphanet:280293 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4266/leukodystrophy-hypomyelinating-3 xsd:anyURI {source="GARD:0004266"} [Term] id: MONDO:0009844 name: pellagra-like syndrome subset: gard_rare {source="GARD:0004267"} synonym: "pellagra like syndrome" RELATED [GARD:0004267] synonym: "pellagra-like rash with neurologic manifestations" RELATED [GARD:0004267] synonym: "pellagra-like skin rash-neurological manifestations syndrome" EXACT [Orphanet:2837] synonym: "pellagra-like syndrome" EXACT [OMIM:260650] xref: MESH:C538352 {source="MONDO:equivalentTo"} xref: OMIM:260650 {source="MONDO:equivalentTo"} xref: Orphanet:2837 {source="MONDO:equivalentObsolete", source="OMIM:260650"} xref: UMLS:C1850052 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:260650"} is_a: EFO:0000508 {source="Orphanet:2837/inferred"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C538352 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850052 property_value: exactMatch https://omim.org/entry/260650 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4267/pellagra-like-syndrome xsd:anyURI {source="GARD:0004267"} [Term] id: MONDO:0009845 name: pelviscapular dysplasia def: "Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism." [Orphanet:93333] subset: ordo_malformation_syndrome {source="Orphanet:93333"} synonym: "COUSIN syndrome" RELATED [OMIM:260660] synonym: "Cousin syndrome" EXACT [Orphanet:93333] synonym: "craniofacial dysmorphism, hypoplasia of scapula and pelvis and short stature" RELATED [GARD:0001555] synonym: "craniofacial Dysmorphism, hypoplasia of scapula and pelvis, and short stature" RELATED [OMIM:260660] synonym: "familial pelvis-scapular dysplasia" EXACT [Orphanet:93333] synonym: "pelviscapular dysplasia" EXACT [OMIM:260660] xref: MESH:C535550 {source="Orphanet:93333", source="MONDO:equivalentTo", source="Orphanet:93333/e"} xref: OMIM:260660 {source="Orphanet:93333", source="MONDO:equivalentTo", source="Orphanet:93333/e"} xref: Orphanet:93333 {source="MONDO:equivalentTo", source="OMIM:260660"} xref: SCTID:719299009 {source="MONDO:equivalentTo"} xref: UMLS:C1850040 {source="Orphanet:93333", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:260660", source="Orphanet:93333/e"} is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect property_value: exactMatch http://identifiers.org/mesh/C535550 property_value: exactMatch http://identifiers.org/snomedct/719299009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850040 property_value: exactMatch https://omim.org/entry/260660 property_value: exactMatch Orphanet:93333 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0009846 name: pentosuria def: "Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day." [Orphanet:2843] subset: gard_rare {source="GARD:0000418"} subset: mostly_harmless {source="PMID:29884839"} subset: ordo_disease {source="Orphanet:2843"} synonym: "essential pentosuria" EXACT [Orphanet:2843] synonym: "L-xylulose reductase deficiency" RELATED [OMIM:260800] synonym: "L-Xylulosuria" RELATED [OMIM:260800] synonym: "pentosuria" EXACT [MONDO:Lexical, OMIM:260800, OMIM:genemap2] synonym: "PNTSU" RELATED ABBREVIATION [MONDO:Lexical, OMIM:260800] synonym: "xylitol dehydrogenase deficiency" EXACT [OMIM:260800, Orphanet:2843] xref: DOID:0111258 {source="MONDO:equivalentTo"} xref: ICD9:271.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10064170 {source="Orphanet:2843", source="Orphanet:2843/e"} xref: MESH:C536652 {source="MONDO:equivalentTo", source="Orphanet:2843", source="Orphanet:2843/e"} xref: OMIM:260800 {source="MONDO:equivalentTo", source="Orphanet:2843", source="Orphanet:2843/e"} xref: Orphanet:2843 {source="OMIM:260800", source="MONDO:equivalentTo"} xref: SCTID:190764000 {source="MONDO:equivalentTo"} xref: UMLS:C0268162 {source="OMIM:260800", source="MONDO:equivalentTo", source="Orphanet:2843", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2843/e"} is_a: MONDO:0019231 {source="PMID:33340416"} ! inborn disorder of pentose phosphate metabolism property_value: closeMatch http://identifiers.org/meddra/10064170 property_value: exactMatch DOID:0111258 property_value: exactMatch http://identifiers.org/mesh/C536652 property_value: exactMatch http://identifiers.org/snomedct/190764000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268162 property_value: exactMatch https://omim.org/entry/260800 property_value: exactMatch Orphanet:2843 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/418/pentosuria xsd:anyURI {source="GARD:0000418"} [Term] id: MONDO:0009849 name: hyperimmunoglobulinemia D with periodic fever def: "Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)." [Orphanet:343] subset: ordo_disease {source="Orphanet:343"} synonym: "HIDS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:260920, Orphanet:343] synonym: "hyper IgD syndrome" RELATED [GARD:0002788] synonym: "hyper-IgD syndrome" EXACT [MONDO:Lexical, OMIM:260920, Orphanet:343] synonym: "hyperimmunoglobinemia D with recurrent fever" EXACT [Orphanet:343] synonym: "hyperimmunoglobulinemia D and periodic fever syndrome" RELATED [OMIM:260920] synonym: "hyperimmunoglobulinemia D syndrome" EXACT [Orphanet:343] synonym: "partial mevalonate kinase deficiency" EXACT [Orphanet:343] synonym: "periodic fever Dutch type" RELATED [GARD:0002788] synonym: "periodic fever, Dutch type" RELATED [OMIM:260920] xref: OMIM:260920 {source="Orphanet:343/e", source="MONDO:equivalentTo", source="Orphanet:343"} xref: Orphanet:343 {source="OMIM:260920", source="MONDO:equivalentTo"} xref: UMLS:C0398691 {source="OMIM:260920", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:343"} is_a: MONDO:0015135 ! primary immunodeficiency due to a genetic defect in innate immunity is_a: MONDO:0017708 {source="Orphanet:343"} ! mevalonate kinase deficiency property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398691 property_value: exactMatch https://omim.org/entry/260920 property_value: exactMatch Orphanet:343 [Term] id: MONDO:0009852 name: hereditary intrinsic factor deficiency def: "Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities." [Orphanet:332] subset: ordo_disease {source="Orphanet:332"} synonym: "congenital intrinsic factor deficiency" EXACT [Orphanet:332] synonym: "congenital pernicious anaemia" EXACT OMO:0003005 [] synonym: "congenital pernicious anaemia due to defect of intrinsic factor" RELATED OMO:0003005 [] synonym: "congenital pernicious anemia" EXACT [Orphanet:332] synonym: "congenital pernicious anemia due to defect of intrinsic factor" RELATED [GARD:0003024] synonym: "gastric intrinsic factor deficiency" EXACT [Orphanet:332] synonym: "hereditary juvenile megaloblastic anaemia due to intrinsic factor deficiency" EXACT OMO:0003005 [] synonym: "hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency" EXACT [Orphanet:332] synonym: "IFD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:261000, Orphanet:332] synonym: "intrinsic factor deficiency" BROAD [MONDO:Lexical, OMIM:261000, Orphanet:332] synonym: "intrinsic factor, congenital deficiency of" RELATED [GARD:0003024] synonym: "pernicious Anemia, congenital, due to defect of intrinsic Factor" RELATED [OMIM:261000] xref: DOID:0050734 {source="MONDO:equivalentTo"} xref: ICD9:281.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10070440 {source="Orphanet:332/e", source="Orphanet:332"} xref: MESH:C563242 {source="MONDO:equivalentTo"} xref: OMIM:261000 {source="Orphanet:332/e", source="MONDO:equivalentTo", source="DOID:0050734", source="Orphanet:332"} xref: Orphanet:332 {source="MONDO:equivalentTo", source="OMIM:261000"} xref: SCTID:34925000 {source="MONDO:relatedTo"} xref: SCTID:60504009 {source="MONDO:equivalentTo"} xref: UMLS:C1394891 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:261000", source="Orphanet:332"} is_a: MONDO:0000424 {source="DOID:0050734", source="MESH:C563242/inferred", source="MONDO:Redundant"} ! inborn vitamin B12 deficiency is_a: MONDO:0016624 ! inherited deficiency anemia is_a: MONDO:0019220 {source="Orphanet:332"} ! inborn disorder of cobalamin metabolism and transport property_value: closeMatch http://identifiers.org/meddra/10070440 property_value: exactMatch DOID:0050734 property_value: exactMatch http://identifiers.org/mesh/C563242 property_value: exactMatch http://identifiers.org/snomedct/60504009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1394891 property_value: exactMatch https://omim.org/entry/261000 property_value: exactMatch Orphanet:332 property_value: relatedMatch http://identifiers.org/snomedct/34925000 [Term] id: MONDO:0009853 name: Imerslund-Grasbeck syndrome def: "Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood." [Orphanet:35858] subset: ordo_disease {source="Orphanet:35858"} synonym: "defect of enterocyte intrinsic factor receptor" RELATED [GARD:0007006] synonym: "enterocyte cobalamin malabsorption" RELATED [OMIM:261100] synonym: "familial megaloblastic anaemia" EXACT OMO:0003005 [] synonym: "familial megaloblastic anemia" EXACT [Orphanet:35858] synonym: "Gräsbeck-Imerslund disease" RELATED [Orphanet:35858] synonym: "Imerslund-Grasbeck syndrome" EXACT [OMIM:261100] synonym: "Imerslund-Gräsbeck syndrome" EXACT [NCIT:C131677] synonym: "juvenile megaloblastic Anaemia" EXACT OMO:0003005 [] synonym: "juvenile megaloblastic Anemia" EXACT [NCIT:C131677] synonym: "selective cobalamin malabsorption with proteinuria" EXACT [Orphanet:35858] xref: ICD9:281.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538556 {source="MONDO:equivalentTo"} xref: OMIMPS:261100 {source="Orphanet:35858", source="MONDO:equivalentTo", source="Orphanet:35858/e"} xref: Orphanet:35858 {source="MONDO:equivalentTo", source="OMIM:261100"} xref: SCTID:360495000 {source="MONDO:equivalentTo"} is_a: MONDO:0001700 {source="DC-OMIM:261100", source="NCIT:C131677"} ! megaloblastic anemia is_a: MONDO:0015179 {source="Orphanet:35858"} ! intestinal disease due to vitamin absorption anomaly is_a: MONDO:0016624 ! inherited deficiency anemia is_a: MONDO:0019220 {source="Orphanet:35858"} ! inborn disorder of cobalamin metabolism and transport property_value: exactMatch http://identifiers.org/mesh/C538556 property_value: exactMatch http://identifiers.org/snomedct/360495000 property_value: exactMatch https://omim.org/phenotypicSeries/PS261100 property_value: exactMatch Orphanet:35858 property_value: excluded_subClassOf MONDO:0019743 {source="Orphanet:35858"} [Term] id: MONDO:0009855 name: d-bifunctional protein deficiency def: "A genetic disorder that affects the ability of the body to effectively break down fat from our diet. It is typically characterized by hypotonia (low muscle tone) and seizures in the newborn period. Other symptoms include unusual facial features and an enlarged liver (hepatomegaly). Most babies with this condition nevergain anydevelopmental skills and do not survive past the age of 2. DBP deficiency is caused by mutations in the HSD17B4 gene and is inherited in an autosomal recessive manner. Some researchers have suggested classifying DBP deficiency into three subtypes, depending on how severely the mutation in the HSD17B4 gene affects the function of the gene and the protein that it codes for. Almost all individuals with types I, II, and III have similar signs and symptoms. A fourth subtype has additionally been proposed for individuals that have less severe symptoms. While there is no cure for DBP deficiency, treatment is focused on improving nutrition and growth, controlling symptoms, and limiting the progression of liver disease." [https://rarediseases.info.nih.gov/diseases/4539/d-bifunctional-protein-deficiency] subset: gard_rare {source="GARD:0004539"} subset: ordo_disease {source="Orphanet:300"} synonym: "17-beta-hydroxysteroid dehydrogenase 4 deficiency" RELATED [OMIM:261515] synonym: "17-beta-hydroxysteroid dehydrogenase IV deficiency" RELATED [GARD:0004539] synonym: "bifunctional enzyme deficiency" RELATED [GARD:0004539] synonym: "D-bifunctional enzyme deficiency" EXACT [NCIT:C119676] synonym: "d-bifunctional protein deficiency" EXACT [OMIM:261515] synonym: "DBP deficiency" RELATED [OMIM:261515] synonym: "HSD17B4 deficiency" EXACT [https://www.clinicalgenome.org/affiliation/40049/] synonym: "multifunctional enzyme deficiency" EXACT [NCIT:C119676] synonym: "Pbfe deficiency" RELATED [OMIM:261515] synonym: "peroxisomal bifunctional enzyme deficiency" RELATED [OMIM:261515] synonym: "peroxisomal multifunctional enzyme (MFE2) deficiency" EXACT [NCIT:C119676] synonym: "peroxisomal multifunctional enzyme deficiency" EXACT [NCIT:C119676] synonym: "pseudo-Zellweger syndrome" EXACT [NCIT:C119676] xref: DOID:0090031 {source="MONDO:equivalentTo"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C119676 {source="MONDO:equivalentTo"} xref: OMIM:261515 {source="DOID:0090031", source="Orphanet:300/e", source="MONDO:equivalentTo", source="Orphanet:300"} xref: Orphanet:300 {source="OMIM:261515", source="DOID:0090031", source="MONDO:equivalentTo"} xref: SCTID:238068007 {source="MONDO:equivalentTo"} xref: UMLS:C0342870 {source="OMIM:261515", source="Orphanet:300/e", source="NCIT:C119676", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:300"} xref: UMLS:C1533628 {source="MONDO:equivalentTo"} xref: UMLS:CN203333 {source="MONDO:equivalentTo"} is_a: MONDO:0019233 {source="Orphanet:300", source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of peroxisomal beta oxidation property_value: exactMatch DOID:0090031 property_value: exactMatch http://identifiers.org/snomedct/238068007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342870 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1533628 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203333 property_value: exactMatch https://omim.org/entry/261515 property_value: exactMatch NCIT:C119676 property_value: exactMatch Orphanet:300 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4539/d-bifunctional-protein-deficiency xsd:anyURI {source="GARD:0004539"} [Term] id: MONDO:0009856 name: Peters plus syndrome def: "An autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism." [Orphanet:709] subset: gard_rare {source="GARD:0008422"} subset: ordo_malformation_syndrome {source="Orphanet:709"} synonym: "Krause-Kivlin syndrome" EXACT [DOID:0080201, OMIM:261540, Orphanet:709] synonym: "Krause-van Schooneveld-Kivlin syndrome" EXACT [Orphanet:709] synonym: "Peters anomaly with short limb dwarfism" EXACT [Orphanet:709] synonym: "Peters anomaly with short-limb dwarfism" RELATED [OMIM:261540] synonym: "Peters anomaly-short limb dwarfism syndrome" EXACT [DOID:0080201] synonym: "Peters-plus syndrome" EXACT [DOID:0080201, OMIM:261540] xref: DOID:0070312 {source="MONDO:equivalentObsolete"} xref: DOID:0080201 {source="MONDO:equivalentTo"} xref: ICD9:743.44 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537617 {source="MONDO:equivalentTo"} xref: NCIT:C123436 {source="MONDO:equivalentTo"} xref: OMIM:261540 {source="Orphanet:709/e", source="MONDO:equivalentTo", source="DOID:0070312", source="Orphanet:709"} xref: Orphanet:709 {source="MONDO:equivalentTo", source="OMIM:261540"} xref: SCTID:449817000 {source="MONDO:equivalentTo"} xref: UMLS:C0796012 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:261540", source="NCIT:C123436", source="Orphanet:709"} is_a: EFO:0003777 {source="MONDO:0018290-obsoleted"} ! heart disease is_a: EFO:0003966 {source="MONDO:0020222-obsoleted"} ! eye disease is_a: MONDO:0002254 {source="DOID:0070312", source="DOID:0080201", source="MONDO:Redundant", source="NCIT:C123436"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:709"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0017747 {source="Orphanet:709"} ! disorder of fucoglycosan synthesis property_value: exactMatch DOID:0080201 property_value: exactMatch http://identifiers.org/mesh/C537617 property_value: exactMatch http://identifiers.org/snomedct/449817000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796012 property_value: exactMatch https://omim.org/entry/261540 property_value: exactMatch NCIT:C123436 property_value: exactMatch Orphanet:709 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8422/peters-plus-syndrome xsd:anyURI {source="GARD:0008422"} [Term] id: MONDO:0009857 name: persistent Mullerian duct syndrome def: "Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys." [Orphanet:2856] subset: gard_rare {source="GARD:0008435"} subset: ordo_malformation_syndrome {source="Orphanet:2856"} synonym: "female genital ducts in otherwise normal Male" RELATED [OMIM:261550] synonym: "female genital ducts in otherwise normal male" RELATED [GARD:0008435] synonym: "hernia uteri inguinale" RELATED [OMIM:261550] synonym: "persistent Muellerian duct syndrome" EXACT [DOID:0050791] synonym: "persistent Mullerian derivatives" EXACT [Orphanet:2856] synonym: "persistent Mullerian duct syndrome" EXACT [] synonym: "persistent mullerian duct syndrome, type I" EXACT [OMIM:261550, OMIM:genemap2] synonym: "persistent mullerian duct syndrome, type II" EXACT [OMIM:261550, OMIM:genemap2] synonym: "persistent mullerian duct syndrome, types 1 and 2" RELATED [GARD:0008435] synonym: "persistent MULLERIAN duct syndrome, types I and II" RELATED [MONDO:Lexical, OMIM:261550] synonym: "persistent Müllerian derivatives" EXACT [Orphanet:2856] synonym: "persistent Müllerian duct syndrome" RELATED [Orphanet:2856] synonym: "persistent oviduct syndrome" RELATED [OMIM:261550] synonym: "PMDS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:261550, Orphanet:2856] synonym: "pseudohermaphroditism, Male internal" RELATED [OMIM:261550] xref: DOID:0050791 {source="MONDO:equivalentTo"} xref: ICD9:752.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536665 {source="MONDO:equivalentTo", source="Orphanet:2856", source="DOID:0050791", source="Orphanet:2856/e"} xref: NCIT:C120188 {source="MONDO:equivalentTo", source="DOID:0050791"} xref: OMIM:261550 {source="MONDO:equivalentTo", source="Orphanet:2856", source="DOID:0050791", source="Orphanet:2856/e"} xref: Orphanet:2856 {source="MONDO:equivalentTo", source="OMIM:261550"} xref: SCTID:702358005 {source="MONDO:equivalentTo", source="DOID:0050791"} xref: UMLS:C1849930 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2856", source="NCIT:C120188", source="OMIM:261550", source="DOID:0050791", source="Orphanet:2856/e"} is_a: EFO:0005579 {source="DOID:0050791"} ! pseudohermaphroditism is_a: MONDO:0017969 {source="Orphanet:2856"} ! 46,XY disorder of sex development of endocrine origin relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch DOID:0050791 property_value: exactMatch http://identifiers.org/mesh/C536665 property_value: exactMatch http://identifiers.org/snomedct/702358005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849930 property_value: exactMatch https://omim.org/entry/261550 property_value: exactMatch NCIT:C120188 property_value: exactMatch Orphanet:2856 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8435/persistent-mullerian-duct-syndrome xsd:anyURI {source="GARD:0008435"} [Term] id: MONDO:0009858 name: Pfeiffer-Palm-Teller syndrome def: "Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit." [Orphanet:2871] subset: gard_rare {source="GARD:0004305"} subset: ordo_malformation_syndrome {source="Orphanet:2871"} synonym: "Pfeiffer Palm Teller syndrome" RELATED [GARD:0004305] synonym: "Pfeiffer-Palm-Teller syndrome" EXACT [OMIM:261560] synonym: "PPT syndrome" RELATED [OMIM:261560] synonym: "short stature unique facies enamel hypoplasia progressive joint stiffness and high-pitched voice" RELATED [GARD:0004305] synonym: "short stature, unique facies, enamel hypoplasia, progressive Joint stiffness, and high-pitched voice" RELATED [OMIM:261560] xref: MESH:C537889 {source="Orphanet:2871", source="MONDO:equivalentTo", source="Orphanet:2871/e"} xref: OMIM:261560 {source="Orphanet:2871", source="MONDO:equivalentTo", source="Orphanet:2871/e"} xref: Orphanet:2871 {source="MONDO:equivalentTo", source="OMIM:261560"} xref: SCTID:726672000 {source="MONDO:equivalentTo"} xref: UMLS:C1849929 {source="Orphanet:2871", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:261560", source="Orphanet:2871/e"} is_a: MONDO:0015159 {source="Orphanet:2871"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C537889 property_value: exactMatch http://identifiers.org/snomedct/726672000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849929 property_value: exactMatch https://omim.org/entry/261560 property_value: exactMatch Orphanet:2871 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2871"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4305/pfeiffer-palm-teller-syndrome xsd:anyURI {source="GARD:0004305"} [Term] id: MONDO:0009859 name: PHAVER syndrome def: "Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects." [Orphanet:2876] subset: gard_rare {source="GARD:0004465"} subset: ordo_malformation_syndrome {source="Orphanet:2876"} synonym: "PHAVER syndrome" EXACT [OMIM:261575] synonym: "Powell-Chandra-Saal syndrome" EXACT [Orphanet:2876] synonym: "pterygia heart defects autosomal recessive inheritance vertebral defects Ear anomalies and radial defects" RELATED [GARD:0004465] xref: MESH:C538357 {source="MONDO:equivalentTo"} xref: OMIM:261575 {source="MONDO:equivalentTo", source="Orphanet:2876", source="Orphanet:2876/e"} xref: Orphanet:2876 {source="MONDO:equivalentTo", source="OMIM:261575"} xref: SCTID:723453002 {source="MONDO:equivalentTo"} xref: UMLS:C1849928 {source="MONDO:equivalentTo", source="Orphanet:2876", source="MONDO:ncbi_mim2gene_medline", source="OMIM:261575"} is_a: MONDO:0015161 {source="Orphanet:2876"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C538357 property_value: exactMatch http://identifiers.org/snomedct/723453002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849928 property_value: exactMatch https://omim.org/entry/261575 property_value: exactMatch Orphanet:2876 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4465/phaver-syndrome xsd:anyURI {source="GARD:0004465"} [Term] id: MONDO:0009861 name: phenylketonuria def: "Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients." [Orphanet:716] subset: clingen subset: ordo_disease {source="Orphanet:716"} synonym: "HPA, non-PKU mild" RELATED [OMIM:261600] synonym: "hyperphenylalaninemia, non-PKU mild" EXACT [OMIM:261600, OMIM:genemap2] synonym: "imbecilitus phenylpyruvica" RELATED [] synonym: "oligophrenia Phenylpyruvica" RELATED [OMIM:261600] synonym: "oligophrenia phenylpyruvica" RELATED [] synonym: "PAH deficiency" EXACT [OMIM:261600, Orphanet:716] synonym: "phenylalanine hydroxylase deficiency" EXACT [OMIM:261600, Orphanet:716] synonym: "phenylalaninemia" EXACT [DOID:9281] synonym: "phenylketonuria" EXACT [MONDO:Lexical, OMIM:261600] synonym: "phenylketonuria, maternal" RELATED [OMIM:261600] synonym: "phenylpyruvic oligophrenia" RELATED [] synonym: "PKU" EXACT ABBREVIATION [DOID:9281, MONDO:Lexical, OMIM:261600, Orphanet:716] xref: DOID:9281 {source="MONDO:equivalentTo"} xref: ICD9:270.1 {source="DOID:9281"} xref: MedDRA:10034872 {source="Orphanet:716", source="Orphanet:716/e"} xref: MESH:D010661 {source="DOID:9281", source="MONDO:equivalentTo", source="Orphanet:716", source="Orphanet:716/e"} xref: NCIT:C81315 {source="DOID:9281", source="MONDO:equivalentTo"} xref: OMIM:261600 {source="DOID:9281", source="MONDO:equivalentTo", source="Orphanet:716", source="Orphanet:716/e"} xref: Orphanet:716 {source="OMIM:261600", source="MONDO:equivalentTo"} xref: SCTID:7573000 {source="MONDO:equivalentTo"} xref: UMLS:C0031485 {source="DOID:9281", source="NCIT:C81315", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:716", source="Orphanet:716/e"} is_a: EFO:1000017 {source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0017306 {source="Orphanet:716", source="PMID:33340416"} ! disorder of phenylalanine metabolism property_value: closeMatch http://identifiers.org/meddra/10034872 property_value: exactMatch DOID:9281 property_value: exactMatch http://identifiers.org/mesh/D010661 property_value: exactMatch http://identifiers.org/snomedct/7573000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031485 property_value: exactMatch https://omim.org/entry/261600 property_value: exactMatch NCIT:C81315 property_value: exactMatch Orphanet:716 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0009862 name: dihydropteridine reductase deficiency def: "Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties." [Orphanet:226] subset: gard_rare {source="GARD:0004319"} subset: ordo_clinical_subtype {source="Orphanet:226"} synonym: "6,7-dihydropteridine reductase activity disease" EXACT [MONDO:design_pattern] synonym: "DHPR deficiency" RELATED [OMIM:261630] synonym: "dihydropteridine reductase deficiency" EXACT [OMIM:261630] synonym: "disorder of 6,7-dihydropteridine reductase activity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "HPABH4C" RELATED ABBREVIATION [MONDO:Lexical, OMIM:261630] synonym: "hyperphenylalaninemia due to dihydropteridine reductase deficiency" EXACT [Orphanet:226] synonym: "hyperphenylalaninemia, BH-4-deficient, C" RELATED [GARD:0004319] synonym: "hyperphenylalaninemia, BH4-deficient C" EXACT [NCIT:C138173] synonym: "hyperphenylalaninemia, BH4-deficient, C" RELATED [MONDO:Lexical, OMIM:261630] synonym: "hyperphenylalaninemia, Bh4-deficient, type C" EXACT [MONDORULE:1, OMIM:261630] synonym: "hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to DHPR deficiency" RELATED [OMIM:261630] synonym: "phenylketonuria type 2" EXACT [Orphanet:226] synonym: "PKU type 2" EXACT [Orphanet:226] synonym: "Qdpr deficiency" RELATED [OMIM:261630] synonym: "quinoid dihydropteridine reductase deficiency" RELATED [OMIM:261630] xref: DOID:0081130 {source="MONDO:equivalentTo"} xref: NCIT:C138173 {source="MONDO:equivalentTo"} xref: OMIM:261630 {source="Orphanet:226", source="MONDO:equivalentTo", source="Orphanet:226/e"} xref: Orphanet:226 {source="MONDO:equivalentTo", source="OMIM:261630"} xref: SCTID:58256000 {source="MONDO:equivalentTo"} is_a: MONDO:0016543 {source="DC-OMIM:261630", source="Orphanet:226"} ! hyperphenylalaninemia due to tetrahydrobiopterin deficiency is_a: MONDO:0045014 ! tetrahydrobiopterin metabolic process disease property_value: exactMatch DOID:0081130 property_value: exactMatch http://identifiers.org/snomedct/58256000 property_value: exactMatch https://omim.org/entry/261630 property_value: exactMatch NCIT:C138173 property_value: exactMatch Orphanet:226 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4319/dihydropteridine-reductase-deficiency xsd:anyURI {source="GARD:0004319"} [Term] id: MONDO:0009863 name: BH4-deficient hyperphenylalaninemia A def: "An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits." [NCIT:C138171] subset: ordo_clinical_subtype {source="Orphanet:13"} synonym: "6-pyruvoyl tetrahydropterin synthase deficiency" EXACT [NCIT:C138171] synonym: "6-pyruvoyl-tetrahydropterin synthase deficiency" EXACT [DOID:0090106] synonym: "BH4-deficient hyperphenylalaninemia A" EXACT [] synonym: "Bh4-deficient hyperphenylalaninemia type A" EXACT [DOID:0090106, MONDORULE:1] synonym: "HPABH4A" EXACT ABBREVIATION [DOID:0090106, MONDO:Lexical, OMIM:261640] synonym: "hyperphenylalanemia, BH4-deficient, A" RELATED [GARD:0005682] synonym: "hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency" RELATED [GARD:0005682] synonym: "hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency" EXACT [DOID:0090106, Orphanet:13] synonym: "hyperphenylalaninemia, BH4-deficient A" EXACT [NCIT:C138171] synonym: "hyperphenylalaninemia, BH4-deficient, A" RELATED [MESH:C535325, MONDO:Lexical, OMIM:261640] synonym: "hyperphenylalaninemia, Bh4-deficient, due to partial PTS deficiency" RELATED [OMIM:261640] synonym: "hyperphenylalaninemia, BH4-deficient, type A" RELATED [MESH:C535325] synonym: "hyperphenylalaninemia, Bh4-deficient, type a" EXACT [MONDORULE:1, OMIM:261640] synonym: "hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to PTS deficiency" RELATED [MESH:C535325, OMIM:261640] synonym: "PTS deficiency" EXACT [DOID:0090106, MESH:C535325, OMIM:261640] synonym: "PTS deficiency hyperphenylalaninemia, BH4-deficient, due to partial PTS deficiency, included" RELATED [MESH:C535325] synonym: "tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency" EXACT [DOID:0090106] xref: DOID:0090106 {source="MONDO:equivalentTo"} xref: MESH:C535325 {source="Orphanet:13", source="MONDO:equivalentTo", source="DOID:0090106", source="Orphanet:13/e"} xref: NCIT:C138171 {source="MONDO:equivalentTo"} xref: OMIM:261640 {source="Orphanet:13", source="MONDO:equivalentTo", source="DOID:0090106", source="Orphanet:13/e", source="MEDIC:C535325"} xref: Orphanet:13 {source="MONDO:equivalentTo", source="DOID:0090106", source="OMIM:261640"} xref: SCTID:237914002 {source="MONDO:equivalentTo"} xref: UMLS:C0878676 {source="Orphanet:13", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:0090106", source="Orphanet:13/e", source="OMIM:261640"} is_a: MONDO:0016543 {source="DC-OMIM:261640", source="Orphanet:13"} ! hyperphenylalaninemia due to tetrahydrobiopterin deficiency property_value: exactMatch DOID:0090106 property_value: exactMatch http://identifiers.org/mesh/C535325 property_value: exactMatch http://identifiers.org/snomedct/237914002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0878676 property_value: exactMatch https://omim.org/entry/261640 property_value: exactMatch NCIT:C138171 property_value: exactMatch Orphanet:13 [Term] id: MONDO:0009864 name: phosphoenolpyruvate carboxykinase deficiency, mitochondrial synonym: "PCK2 deficiency" RELATED [OMIM:261650] synonym: "PCKDM" RELATED ABBREVIATION [OMIM:261650] synonym: "PEPCK 2 deficiency" RELATED [GARD:0004279] synonym: "PEPCK deficiency, mitochondrial" EXACT [OMIM:261650, OMIM:genemap2] synonym: "PEPCK2" RELATED ABBREVIATION [GARD:0004279] synonym: "PEPCK2 deficiency" RELATED [OMIM:261650] synonym: "phosphoenolpyruvate carboxykinase 2 deficiency" RELATED [GARD:0004279] synonym: "phosphoenolpyruvate carboxykinase deficiency, mitochondrial" EXACT [OMIM:261650] xref: MESH:C564890 {source="MONDO:equivalentTo"} xref: OMIM:261650 {source="MONDO:equivalentTo"} xref: Orphanet:79317 {source="MONDO:equivalentObsolete", source="OMIM:261650"} xref: UMLS:C1849821 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:261650"} is_a: MONDO:0017320 {source="Orphanet:2880/btnt"} ! phosphoenolpyruvate carboxykinase deficiency property_value: exactMatch http://identifiers.org/mesh/C564890 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849821 property_value: exactMatch https://omim.org/entry/261650 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009865 name: glycogen storage disease due to phosphoglycerate mutase deficiency def: "A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy." [NCIT:C131647] subset: ordo_disease {source="Orphanet:97234"} synonym: "glycogen storage disease 10" RELATED [OMIM:261670] synonym: "glycogen storage disease caused by mutation in PGAM2" EXACT [MONDO:design_pattern] synonym: "glycogen storage disease type 10" EXACT [MONDORULE:2, OMIM:261670] synonym: "glycogen storage disease X" RELATED [MONDO:Lexical, OMIM:261670] synonym: "glycogenosis due to phosphoglycerate mutase deficiency" EXACT [Orphanet:97234] synonym: "GSD 10" RELATED [OMIM:261670] synonym: "GSD due to phosphoglycerate mutase deficiency" EXACT [Orphanet:97234] synonym: "GSD type 10" EXACT [Orphanet:97234] synonym: "GSD10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:261670] synonym: "GSDX" RELATED ABBREVIATION [GARD:0009964] synonym: "muscle phosphoglycerate mutase deficiency" EXACT [Orphanet:97234] synonym: "myopathy due to Phosphoglycerate mutase deficiency" RELATED [OMIM:261670] synonym: "myopathy due to phosphoglycerate mutase deficiency" EXACT [Orphanet:97234] synonym: "PGAM deficiency" RELATED [GARD:0009964] synonym: "PGAM2 glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "PGAMM deficiency" RELATED [OMIM:261670] synonym: "Phosphoglycerate mutase deficiency" RELATED [GARD:0009964] synonym: "Phosphoglycerate mutase, muscle, deficiency of" RELATED [OMIM:261670] xref: MESH:C536176 {source="MONDO:equivalentTo"} xref: NCIT:C131647 {source="MONDO:equivalentTo"} xref: OMIM:261670 {source="Orphanet:97234", source="MONDO:equivalentTo", source="Orphanet:97234/e"} xref: Orphanet:97234 {source="MONDO:equivalentTo", source="OMIM:261670"} xref: SCTID:61772003 {source="MONDO:equivalentTo"} is_a: MONDO:0002412 {source="MONDO:Redundant", source="NCIT:C131647", source="Orphanet:97234"} ! disorder of glycogen metabolism is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis property_value: exactMatch http://identifiers.org/mesh/C536176 property_value: exactMatch http://identifiers.org/snomedct/61772003 property_value: exactMatch https://omim.org/entry/261670 property_value: exactMatch NCIT:C131647 property_value: exactMatch Orphanet:97234 property_value: excluded_subClassOf MONDO:0016118 {source="Orphanet:97234"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0009866 name: phosphoenolpyruvate carboxykinase deficiency, cytosolic def: "PEPCK1 deficiency is a rare inborn error of metabolism disorder, characterized by the deficiency of the enzyme PEPCK1, one of the enzymes needed for gluconeogenesis, the process by which organisms produce sugars (namely glucose) from non-carbohydrate precursors (such as amino acids). The symptoms described in the few cases reported in the medical literature suggest that there may be variation in the severity of the symptoms ranging from severe early-onset cases, to milder late-onset presentations. In severe cases symptoms may include persistent and very low levels of blood's sugar in newborns (neonatal hypoglycemia), failure to thrive, build-up of lactic acid in the blood (lactic acidosis), liver enlargement (hepatomegaly) and liver failure leading to neurological degeneration. Milder cases present during childhood with fewer and less serious liver problems. Infections and fasting may trigger the symptoms. PEPCK1 deficiency inheritance is autosomal recessive. It is caused by mutations in the PEPCK1 gene. Some researchers believe that the severity of the disease depend upon the mutations resulting in less or more PEPCK1 activity (the more active the enzyme is, the less severe the disease is, and vice versa). Treatment depend on the symptoms and may include giving extra carbohydrates during heavy exercise and illness or other times of fasting (formal sick day regimen) by the dietitian.PEPCK1 is the cytosolic form of the phosphoenolpyruvate carboxykinase (PEPCK) enzyme, the other being the mitochondrial (PEPCK2)." [GARD:0004278] subset: gard_rare synonym: "PCK1 deficiency, cytosolic" RELATED [OMIM:261680] synonym: "PCKDC" RELATED ABBREVIATION [OMIM:261680] synonym: "PEP carboxykinase deficiency" RELATED [GARD:0004278] synonym: "PEPCK 1 deficiency" RELATED [GARD:0004278] synonym: "PEPCK deficiency, cytosolic" RELATED [OMIM:261680] synonym: "PEPCK1 deficiency" RELATED [] synonym: "phosphoenolpyruvate carboxykinase deficiency" RELATED [GARD:0004278] synonym: "phosphoenolpyruvate carboxykinase deficiency, cytosolic" EXACT [OMIM:261680] synonym: "phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency" RELATED [GARD:0004278] synonym: "phosphoenolpyruvate carboxylase deficiency" RELATED [GARD:0004278] synonym: "phosphopyruvate carboxylase deficiency" RELATED [GARD:0004278] xref: OMIM:261680 {source="GARD:0004278", source="MONDO:equivalentTo"} xref: Orphanet:79316 {source="MONDO:equivalentObsolete", source="OMIM:261680"} is_a: MONDO:0017320 {source="Orphanet:2880/btnt"} ! phosphoenolpyruvate carboxykinase deficiency property_value: exactMatch https://omim.org/entry/261680 [Term] id: MONDO:0009867 name: lethal congenital glycogen storage disease of heart def: "Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:439854"} synonym: "fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease" RELATED [Orphanet:439854] synonym: "fatal congenital hypertrophic cardiomyopathy due to glycogenosis" EXACT [DOID:0090101, Orphanet:439854] synonym: "fatal congenital hypertrophic cardiomyopathy due to GSD" EXACT [DOID:0090101, Orphanet:439854] synonym: "fatal congenital nonlysosomal cardiac glycogenosis" EXACT [DOID:0090101] synonym: "glycogen storage disease caused by mutation in PRKAG2" EXACT [MONDO:design_pattern] synonym: "glycogen storage disease of heart" RELATED [OMIM:261740] synonym: "glycogen storage disease of heart, lethal congenital" RELATED [OMIM:261740] synonym: "phosphorylase kinase deficiency of heart" EXACT [DOID:0090101, OMIM:261740] synonym: "PRKAG2 glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090101 {source="MONDO:equivalentTo"} xref: ICD10EXP:E74.0+ {source="DOID:0090101", source="Orphanet:439854/attributed", source="Orphanet:439854/ntbt", source="Orphanet:439854"} xref: ICD10EXP:G73.6* {source="DOID:0090101", source="Orphanet:439854/attributed", source="Orphanet:439854/ntbt", source="Orphanet:439854"} xref: MESH:C564888 {source="MONDO:equivalentTo"} xref: OMIM:261740 {source="Orphanet:439854/e", source="MONDO:equivalentTo", source="DOID:0090101", source="Orphanet:439854"} xref: Orphanet:439854 {source="MONDO:equivalentTo", source="DOID:0090101"} xref: UMLS:C1849813 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:261740", source="Orphanet:439854"} is_a: MONDO:0002412 {source="DC-OMIM:261740", source="DOID:0090101", source="DOID:0090101/inferred", source="MESH:C564888", source="MONDO:Redundant", source="Orphanet:439854", source="PMID:33340416"} ! disorder of glycogen metabolism relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch DOID:0090101 property_value: exactMatch http://identifiers.org/mesh/C564888 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849813 property_value: exactMatch https://omim.org/entry/261740 property_value: exactMatch Orphanet:439854 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0009868 name: glycogen storage disease IXb def: "Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency." [Orphanet:79240] subset: ordo_disease {source="Orphanet:79240"} synonym: "glycogen storage disease caused by mutation in PHKB" EXACT [MONDO:design_pattern] synonym: "glycogen storage disease due to liver and muscle phosphorylase kinase deficiency" RELATED [Orphanet:79240] synonym: "glycogen storage disease IXb" EXACT [MONDO:Lexical, OMIM:261750] synonym: "glycogen storage disease type 9B" EXACT [DOID:0111041, Orphanet:79240] synonym: "glycogen storage disease type IXb" EXACT [DOID:0111041, MONDORULE:5, OMIM:261750, Orphanet:79240] synonym: "glycogenosis due to liver and muscle phosphorylase kinase deficiency" EXACT [DOID:0111041, Orphanet:79240] synonym: "glycogenosis of liver and muscle, autosomal recessive" RELATED [OMIM:261750] synonym: "glycogenosis type 9B" EXACT [DOID:0111041, Orphanet:79240] synonym: "glycogenosis type IXb" EXACT [DOID:0111041, Orphanet:79240] synonym: "GSD due to liver and muscle phosphorylase kinase deficiency" EXACT [DOID:0111041, Orphanet:79240] synonym: "GSD IXb" EXACT [DOID:0111041, https://www.ncbi.nlm.nih.gov/books/NBK55061/, OMIM:261750] synonym: "GSD type 9B" EXACT [DOID:0111041, Orphanet:79240] synonym: "GSD type IXb" EXACT [DOID:0111041, Orphanet:79240] synonym: "GSD9B" EXACT ABBREVIATION [DOID:0111041, MONDO:Lexical, OMIM:261750] synonym: "PHKB glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "PHKB-related glycogen storage disease type IX" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/] synonym: "phosphorylase kinase deficiency of liver and muscle, autosomal recessive" RELATED [OMIM:261750] xref: DOID:0111041 {source="MONDO:equivalentTo"} xref: MESH:C563008 {source="MONDO:equivalentTo"} xref: OMIM:261750 {source="DOID:0111041", source="MONDO:equivalentTo", source="Orphanet:79240", source="https://www.ncbi.nlm.nih.gov/books/NBK55061/", source="Orphanet:79240/e"} xref: Orphanet:79240 {source="DOID:0111041", source="MONDO:equivalentTo", source="OMIM:261750"} xref: UMLS:C0543514 {source="MONDO:equivalentTo", source="Orphanet:79240", source="OMIM:261750"} is_a: MONDO:0002412 {source="PMID:33340416"} ! disorder of glycogen metabolism disjoint_from: MONDO:0020693 ! glycogen storage disease due to liver phosphorylase kinase deficiency relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare property_value: exactMatch DOID:0111041 property_value: exactMatch http://identifiers.org/mesh/C563008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0543514 property_value: exactMatch https://omim.org/entry/261750 property_value: exactMatch Orphanet:79240 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0009869 name: isolated Pierre-Robin syndrome def: "Pierre-Robin syndrome (or Pierre-Robin sequence) is characterized by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft." [Orphanet:718] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:718"} synonym: "glossoptosis, micrognathia, and cleft palate" RELATED [MESH:D010855, OMIM:261800] synonym: "isolated Pierre Robin sequence" EXACT [Orphanet:718] synonym: "isolated Pierre Robin syndrome" RELATED [Orphanet:718] synonym: "isolated Pierre-Robin syndrome" EXACT [] synonym: "Pierre Robin sequence" RELATED [MESH:D010855, OMIM:261800] synonym: "Pierre Robin syndrome" RELATED [MONDO:Lexical, OMIM:261800] synonym: "Pierre Robin syndrome skeletal dysplasia polydactyly" RELATED [GARD:0004354] synonym: "Pierre Robin's sequence" RELATED [MESH:D010855] synonym: "Pierre Robins sequence" RELATED [MESH:D010855] synonym: "Pierre-Robin syndrome" RELATED [MESH:D010855] synonym: "PRBNS" RELATED ABBREVIATION [MESH:D010855, MONDO:Lexical, OMIM:261800] synonym: "Robin sequence" RELATED [MESH:D010855] synonym: "Robin syndrome, Pierre" RELATED [MESH:D010855] synonym: "sequence, Pierre Robin" RELATED [MESH:D010855] synonym: "sequence, Pierre Robin's" RELATED [MESH:D010855] synonym: "sequence, Robin" RELATED [MESH:D010855] synonym: "syndrome, Pierre Robin" RELATED [MESH:D010855] synonym: "syndrome, Pierre-Robin" RELATED [MESH:D010855] xref: MESH:D010855 {source="MONDO:equivalentTo"} xref: NCIT:C85010 {source="MONDO:equivalentTo"} xref: OMIM:261800 {source="Orphanet:718/e", source="MONDO:equivalentTo", source="Orphanet:718"} xref: Orphanet:718 {source="OMIM:261800", source="MONDO:equivalentTo"} xref: SCTID:4602007 {source="MONDO:equivalentTo"} is_a: EFO:0003966 {source="MONDO:0020222-obsoleted"} ! eye disease property_value: exactMatch http://identifiers.org/mesh/D010855 property_value: exactMatch http://identifiers.org/snomedct/4602007 property_value: exactMatch https://omim.org/entry/261800 property_value: exactMatch NCIT:C85010 property_value: exactMatch Orphanet:718 property_value: excluded_subClassOf MONDO:0002254 {source="NCIT:C85010"} property_value: excluded_subClassOf MONDO:0015501 {source="MONDO:0015319-obsoleted"} [Term] id: MONDO:0009870 name: pili torti def: "Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome." [Orphanet:2889] subset: ordo_disease {source="Orphanet:2889"} synonym: "coarse, dry, lusterless hair which breaks off easily" RELATED [GARD:0004361] synonym: "pili torti" EXACT [MONDO:ambiguous] synonym: "pili torti (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "pili torti, early-onset" RELATED [OMIM:261900] synonym: "pili torti, Ronchese type" RELATED [OMIM:261900] synonym: "twisted hair" EXACT [OMIM:261900, Orphanet:2889] xref: HP:0003777 {source="MONDO:otherHierarchy"} xref: MESH:C562485 {source="MONDO:equivalentTo"} xref: OMIM:261900 {source="MONDO:equivalentTo", source="Orphanet:2889", source="Orphanet:2889/e"} xref: Orphanet:2889 {source="OMIM:261900", source="MONDO:equivalentTo"} xref: SCTID:17170005 {source="MONDO:equivalentTo"} is_a: MONDO:0019281 {source="Orphanet:2889"} ! isolated genetic hair shaft abnormality property_value: exactMatch http://identifiers.org/mesh/C562485 property_value: exactMatch http://identifiers.org/snomedct/17170005 property_value: exactMatch https://omim.org/entry/261900 property_value: exactMatch Orphanet:2889 property_value: IAO:0000589 "pili torti (disease)" xsd:string [Term] id: MONDO:0009871 name: pili torti-developmental delay-neurological abnormalities syndrome def: "Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents." [Orphanet:2891] subset: ordo_malformation_syndrome {source="Orphanet:2891"} synonym: "abnormal hair, joint laxity, and developmental delay" EXACT [OMIM:261990, OMIM:genemap2] synonym: "pili torti and developmental delay" RELATED [OMIM:261990] synonym: "pili torti developmental delay neurological abnormalities" RELATED [GARD:0004362] xref: MESH:C537398 {source="Orphanet:2891", source="MONDO:equivalentTo", source="Orphanet:2891/e"} xref: OMIM:261990 {source="Orphanet:2891", source="MONDO:equivalentTo", source="Orphanet:2891/e"} xref: Orphanet:2891 {source="MONDO:equivalentTo", source="OMIM:261990"} xref: UMLS:C1849811 {source="Orphanet:2891", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2891/e", source="OMIM:261990"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: exactMatch http://identifiers.org/mesh/C537398 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849811 property_value: exactMatch https://omim.org/entry/261990 property_value: exactMatch Orphanet:2891 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009872 name: Bjornstad syndrome def: "Bjrnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti. Less than fifty cases have been reported so far. The hearing loss usually becomes evident very early in life, often in the first year. Pili torti, a condition in which the hair shaft is flattened and twisted, makes the hair very brittle and patients develop hair loss in the first two years of life. Bjrnstad syndrome is transmitted as an autosomal recessive condition. It is caused by mutations in the BCS1L gene. Mutations in this gene also cause GRACILE syndrome." [https://rarediseases.info.nih.gov/diseases/22/bjornstad-syndrome] subset: gard_rare {source="GARD:0000022"} subset: ordo_disease {source="Orphanet:123"} synonym: "Bjornstad syndrome" EXACT [MONDO:Lexical, OMIM:262000] synonym: "BJS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:262000] synonym: "BJörnstad syndrome" RELATED [Orphanet:123] synonym: "deafness and pili torti, Bjornstad type" RELATED [GARD:0000022] synonym: "deafness-pili torti-hypogonadism syndrome" EXACT [Orphanet:123] synonym: "pili torti and nerve deafness" RELATED [OMIM:262000] synonym: "pili torti-sensorineural hearing loss" RELATED [GARD:0000022] synonym: "PTD" RELATED ABBREVIATION [OMIM:262000] synonym: "PTND" RELATED ABBREVIATION [GARD:0000022] xref: DOID:0050677 {source="MONDO:equivalentTo"} xref: EFO:0002779 {source="MONDO:equivalentTo"} xref: MESH:C537633 {source="Orphanet:123/e", source="MONDO:equivalentTo", source="Orphanet:123"} xref: OMIM:262000 {source="Orphanet:123/e", source="MONDO:equivalentTo", source="DOID:0050677", source="Orphanet:123"} xref: Orphanet:123 {source="MONDO:equivalentTo", source="OMIM:262000"} xref: UMLS:C0266006 {source="Orphanet:123/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:262000", source="Orphanet:123"} is_a: EFO:1000017 {source="DOID:0050677", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0019281 {source="Orphanet:123"} ! isolated genetic hair shaft abnormality is_a: MONDO:0021026 ! hereditary epidermal appendage anomaly is_a: MONDO:0044970 ! mitochondrial disease property_value: exactMatch DOID:0050677 property_value: exactMatch http://identifiers.org/mesh/C537633 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266006 property_value: exactMatch https://omim.org/entry/262000 property_value: exactMatch Orphanet:123 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/22/bjornstad-syndrome xsd:anyURI {source="GARD:0000022"} [Term] id: MONDO:0009873 name: pilodental dysplasia-refractive errors syndrome def: "Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985." [Orphanet:2892] subset: ordo_malformation_syndrome {source="Orphanet:2892"} synonym: "Euhidrotic ectodermal dysplasia" EXACT [Orphanet:2892] synonym: "Kopysc-Barczyk-Krol syndrome" EXACT [Orphanet:2892] synonym: "PILODENTAL dysplasia with refractive errors" RELATED [OMIM:262020] synonym: "Trichodental dysplasia with hyperopia" RELATED [OMIM:262020] xref: MESH:C535763 {source="MONDO:equivalentTo"} xref: OMIM:262020 {source="Orphanet:2892", source="MONDO:equivalentTo", source="Orphanet:2892/e"} xref: Orphanet:2892 {source="MONDO:equivalentTo", source="OMIM:262020"} xref: UMLS:C1849805 {source="Orphanet:2892", source="MONDO:equivalentTo", source="OMIM:262020", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019287 {source="MESH:C535763", source="Orphanet:2892"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C535763 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849805 property_value: exactMatch https://omim.org/entry/262020 property_value: exactMatch Orphanet:2892 [Term] id: MONDO:0009874 name: Rabson-Mendenhall syndrome def: "Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes)." [Orphanet:769] subset: gard_rare {source="GARD:0000226"} subset: ordo_malformation_syndrome {source="Orphanet:769"} synonym: "Mendenhall syndrome" RELATED [OMIM:262190] synonym: "pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities" RELATED [OMIM:262190] synonym: "Rabson-Mendenhall syndrome" EXACT [OMIM:262190] xref: ICD9:259.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D056731 {source="Orphanet:769", source="MONDO:directSiblingOf", source="Orphanet:769/e"} xref: NCIT:C131000 {source="MONDO:equivalentTo"} xref: OMIM:262190 {source="MONDO:equivalentTo", source="Orphanet:769", source="Orphanet:769/e"} xref: Orphanet:769 {source="OMIM:262190", source="MONDO:equivalentTo"} xref: SCTID:33559001 {source="MONDO:equivalentTo"} xref: UMLS:C0271695 {source="OMIM:262190", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:769", source="NCIT:C131000", source="Orphanet:769/e"} is_a: MONDO:0002254 {source="NCIT:C131000"} ! syndromic disease is_a: MONDO:0019280 {source="Orphanet:769"} ! hypertrichosis property_value: exactMatch http://identifiers.org/snomedct/33559001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271695 property_value: exactMatch https://omim.org/entry/262190 property_value: exactMatch NCIT:C131000 property_value: exactMatch Orphanet:769 property_value: excluded_subClassOf MONDO:0005015 {source="MONDO:0015885-obsoleted"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5723 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/226/rabson-mendenhall-syndrome xsd:anyURI {source="GARD:0000226"} [Term] id: MONDO:0009876 name: isolated growth hormone deficiency type IA def: "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material basis in null mutations in the GH1 gene on chromosome 17q23.3." [DOID:0060873, PMID:16060904, PMID:8288694] subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:231662"} synonym: "autosomal recessive isolated growth hormone deficiency" EXACT [DOID:0060873] synonym: "congenital IGHD" RELATED [GARD:0007399] synonym: "congenital IGHD type IA" EXACT [Orphanet:231662] synonym: "congenital isolated GH deficiency" RELATED [GARD:0007399] synonym: "congenital isolated GH deficiency type IA" EXACT [Orphanet:231662] synonym: "congenital isolated growth hormone deficiency" RELATED [GARD:0007399] synonym: "congenital isolated growth hormone deficiency type IA" EXACT [Orphanet:231662] synonym: "Growth hormone deficiency, isolated autosomal recessive" RELATED [GARD:0007399] synonym: "Growth hormone deficiency, isolated, autosomal recessive" RELATED [OMIM:262400] synonym: "growth hormone deficiency, isolated, type IA" EXACT [OMIM:262400, OMIM:genemap2] synonym: "IGHD 1A" RELATED [OMIM:262400] synonym: "IGHD IA" EXACT [DOID:0060873] synonym: "IGHD1A" RELATED ABBREVIATION [GARD:0007399, MONDO:Lexical, OMIM:262400] synonym: "ILLIG type growth hormone deficiency" RELATED [GARD:0007399] synonym: "Illig-type Growth hormone deficiency" RELATED [OMIM:262400] synonym: "Illig-type growth hormone deficiency" EXACT [DOID:0060873] synonym: "isolated growth hormone deficiency type 1A" RELATED [GARD:0007399] synonym: "isolated growth hormone deficiency type IA" EXACT [GARD:0007399] synonym: "isolated Growth hormone deficiency, type 1A" RELATED [OMIM:262400] synonym: "isolated growth hormone deficiency, type IA" RELATED [MONDO:Lexical, OMIM:262400] synonym: "non-acquired isolated growth hormone deficiency" RELATED [GARD:0007399] synonym: "pituitary dwarfism 1" RELATED [GARD:0007399, OMIM:262400] synonym: "pituitary dwarfism I" EXACT [DOID:0060873] synonym: "primordial dwarfism" EXACT [DOID:0060873, GARD:0007399, OMIM:262400] synonym: "sexual ateleiotic dwarfism" EXACT [DOID:0060873, GARD:0007399, OMIM:262400] xref: DOID:0060873 {source="MONDO:equivalentTo"} xref: ICD9:259.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537404 {source="MONDO:equivalentTo"} xref: OMIM:262400 {source="DOID:0060873", source="Orphanet:231662", source="MONDO:equivalentTo", source="Orphanet:231662/e", source="GARD:0007399"} xref: Orphanet:231662 {source="DOID:0060873", source="MONDO:equivalentTo", source="GARD:0007399", source="OMIM:262400"} xref: SCTID:237837007 {source="MONDO:equivalentTo"} is_a: MONDO:0000050 {source="DC-OMIM:262400", source="DOID:0060873", source="Orphanet:231662"} ! isolated congenital growth hormone deficiency property_value: exactMatch DOID:0060873 property_value: exactMatch http://identifiers.org/mesh/C537404 property_value: exactMatch http://identifiers.org/snomedct/237837007 property_value: exactMatch https://omim.org/entry/262400 property_value: exactMatch Orphanet:231662 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7399/isolated-growth-hormone-deficiency-type-1a xsd:anyURI {source="GARD:0007399"} [Term] id: MONDO:0009877 name: Laron syndrome def: "Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration." [Orphanet:633] subset: ordo_disease {source="Orphanet:633"} synonym: "complete growth hormone insensitivity" EXACT [Orphanet:633] synonym: "GH receptor deficiency" EXACT [Orphanet:633] synonym: "growth hormone insensitivity syndrome" RELATED [OMIM:262500] synonym: "Growth hormone receptor deficiency" EXACT [OMIM:262500, Orphanet:633] synonym: "Laron dwarfism" RELATED [GARD:0006859] synonym: "Laron syndrome" EXACT [OMIM:262500] synonym: "Laron type pituitary dwarfism I" RELATED [GARD:0006859] synonym: "Laron-type dwarfism" EXACT [Orphanet:633] synonym: "Laron-type isolated somatotropin defect" EXACT [DOID:9521] synonym: "pituitary dwarfism 2" RELATED [OMIM:262500] synonym: "pituitary dwarfism II" RELATED [GARD:0006859] synonym: "primary GH insensitivity" EXACT [Orphanet:633] synonym: "primary GH resistance" EXACT [Orphanet:633] synonym: "primary growth hormone insensitivity" EXACT [Orphanet:633] synonym: "primary growth hormone resistance" EXACT [Orphanet:633] synonym: "short stature due to growth hormone resistance" EXACT [Orphanet:633] xref: DOID:9521 {source="MONDO:equivalentTo"} xref: MESH:D046150 {source="Orphanet:633", source="MONDO:equivalentTo", source="Orphanet:633/e", source="DOID:9521"} xref: NCIT:C130994 {source="MONDO:equivalentTo"} xref: OMIM:262500 {source="Orphanet:633", source="MONDO:equivalentTo", source="Orphanet:633/e", source="DOID:9521"} xref: Orphanet:633 {source="MONDO:equivalentTo", source="OMIM:262500"} xref: SCTID:38196001 {source="MONDO:equivalentTo", source="DOID:9521"} is_a: EFO:1000017 {source="DOID:9521", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015892 {source="Orphanet:633"} ! growth hormone insensitivity syndrome property_value: exactMatch DOID:9521 property_value: exactMatch http://identifiers.org/mesh/D046150 property_value: exactMatch http://identifiers.org/snomedct/38196001 property_value: exactMatch https://omim.org/entry/262500 property_value: exactMatch NCIT:C130994 property_value: exactMatch Orphanet:633 [Term] id: MONDO:0009879 name: short stature due to growth hormone qualitative anomaly def: "Short stature due to growth hormone qualitative anomaly is characterized by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive." [Orphanet:629] subset: ordo_clinical_subtype {source="Orphanet:629"} synonym: "Biodefective Growth hormone" RELATED [OMIM:262650] synonym: "KOWARSKI syndrome" RELATED [OMIM:262650] synonym: "Kowarski syndrome" EXACT [Orphanet:629] synonym: "pituitary dwarfism with normal immunoreactive Growth hormone and Low Somatomedin" RELATED [OMIM:262650] xref: MESH:C537505 {source="MONDO:equivalentTo"} xref: OMIM:262650 {source="MONDO:equivalentTo", source="Orphanet:629", source="Orphanet:629/e"} xref: Orphanet:629 {source="MONDO:equivalentTo", source="OMIM:262650"} xref: UMLS:C1849779 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:629", source="OMIM:262650"} is_a: MONDO:0000050 {source="Orphanet:629"} ! isolated congenital growth hormone deficiency property_value: exactMatch http://identifiers.org/mesh/C537505 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849779 property_value: exactMatch https://omim.org/entry/262650 property_value: exactMatch Orphanet:629 [Term] id: MONDO:0009880 name: short stature-pituitary and cerebellar defects-small sella turcica syndrome def: "Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25)." [Orphanet:85442] subset: ordo_disease {source="Orphanet:85442"} synonym: "CPHD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:262700] synonym: "pituitary hormone deficiency, combined 4" RELATED [GARD:0010604] synonym: "pituitary hormone deficiency, combined with or without cerebellar defects" RELATED [GARD:0010604] synonym: "pituitary hormone deficiency, combined, 4" RELATED [MONDO:Lexical, OMIM:262700] synonym: "pituitary hormone deficiency, combined, type 4" EXACT [MONDORULE:1, OMIM:262700] synonym: "pituitary hormone deficiency, combined, with or without cerebellar defects" RELATED [OMIM:262700] synonym: "short stature, pituitary and cerebellar defects and small sella turcica" RELATED [GARD:0010604] synonym: "short stature, pituitary and cerebellar defects, and small sella turcica" RELATED [OMIM:262700] xref: MESH:C567492 {source="MONDO:equivalentTo"} xref: OMIM:262700 {source="Orphanet:85442", source="MONDO:equivalentTo", source="Orphanet:85442/e"} xref: Orphanet:85442 {source="OMIM:262700", source="MONDO:equivalentTo"} xref: UMLS:C2678408 {source="OMIM:262700", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0013099 {source="MONDO:Redundant", source="OMIM:262700"} ! combined pituitary hormone deficiencies, genetic form is_a: MONDO:0018762 ! non-acquired combined pituitary hormone deficiency property_value: exactMatch http://identifiers.org/mesh/C567492 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678408 property_value: exactMatch https://omim.org/entry/262700 property_value: exactMatch Orphanet:85442 [Term] id: MONDO:0009883 name: alpha-2-plasmin inhibitor deficiency def: "Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner." [Orphanet:79] subset: ordo_disease {source="Orphanet:79"} synonym: "alpha-2-plasmin inhibitor deficiency" EXACT [OMIM:262850] synonym: "anti-plasmin deficiency, congenital" RELATED [GARD:0000731] synonym: "antiplasmin deficiency" RELATED [OMIM:262850] synonym: "antiplasmin deficiency, congenital" RELATED [GARD:0000731] synonym: "antiplasmin defiency" EXACT [DOID:0060601] synonym: "congenital alpha2-antiplasmin deficiency" RELATED [Orphanet:79] synonym: "plasmin inhibitor deficiency" EXACT [DOID:0060601, OMIM:262850] xref: DOID:0060601 {source="MONDO:equivalentTo"} xref: MESH:C537777 {source="MONDO:equivalentTo"} xref: OMIM:262850 {source="Orphanet:79", source="MONDO:equivalentTo", source="DOID:0060601", source="Orphanet:79/e"} xref: Orphanet:79 {source="MONDO:equivalentTo", source="DOID:0060601", source="OMIM:262850"} xref: SCTID:716746003 {source="MONDO:equivalentTo"} xref: UMLS:C2752081 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:262850"} is_a: MONDO:0002242 {source="MONDO:0019039-obsoleted"} ! coagulation protein disease is_a: MONDO:0002243 {source="DOID:0060601", source="MESH:C537777"} ! hemorrhagic disease property_value: exactMatch DOID:0060601 property_value: exactMatch http://identifiers.org/mesh/C537777 property_value: exactMatch http://identifiers.org/snomedct/716746003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2752081 property_value: exactMatch https://omim.org/entry/262850 property_value: exactMatch Orphanet:79 [Term] id: MONDO:0009885 name: Scott syndrome def: "Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity." [Orphanet:806] subset: gard_rare {source="GARD:0004777"} subset: ordo_disease {source="Orphanet:806"} synonym: "BDPLT7" EXACT ABBREVIATION [DOID:0111052] synonym: "bleeding abnormality due to deficiency of platelet biding of factor X" EXACT [DOID:0111052] synonym: "bleeding Abnormality due to deficiency of Platelet binding of Factor 10" RELATED [OMIM:262890] synonym: "bleeding disorder, Platelet-type, 7" RELATED [OMIM:262890] synonym: "familial prothrombin consumption inhibitor" EXACT [DOID:0111052] synonym: "familial prothrombin conversion defect" EXACT [DOID:0111052] synonym: "Platelet factor X receptor deficiency" RELATED [GARD:0004777] synonym: "platelet-type bleeding disorder 7" EXACT [DOID:0111052] synonym: "prothrombin consumption deficiency" EXACT [DOID:0111052, OMIM:262890] synonym: "prothrombin consumption inhibitor, familial" RELATED [OMIM:262890] synonym: "prothrombin conversion defect, familial" RELATED [OMIM:262890] synonym: "Scott syndrome" EXACT [MONDO:Lexical, OMIM:262890] synonym: "SCTS" EXACT ABBREVIATION [DOID:0111052, MONDO:Lexical, OMIM:262890] xref: DOID:0111052 {source="MONDO:equivalentTo"} xref: MESH:C563120 {source="MONDO:equivalentTo"} xref: OMIM:262890 {source="Orphanet:806/e", source="DOID:0111052", source="MONDO:equivalentTo", source="Orphanet:806"} xref: Orphanet:806 {source="DOID:0111052", source="MONDO:equivalentTo", source="OMIM:262890"} xref: SCTID:128098009 {source="MONDO:equivalentTo"} xref: UMLS:C0796149 {source="Orphanet:806/e", source="DOID:0111052", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:262890", source="Orphanet:806"} is_a: MONDO:0000009 {source="DC-OMIM:262890", source="MONDO:0017142-obsoleted", source="MONDO:Redundant", source="OMIM:262890"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0021181 {source="MONDO:0017142-obsoleted"} ! inherited blood coagulation disorder property_value: exactMatch DOID:0111052 property_value: exactMatch http://identifiers.org/mesh/C563120 property_value: exactMatch http://identifiers.org/snomedct/128098009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796149 property_value: exactMatch https://omim.org/entry/262890 property_value: exactMatch Orphanet:806 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4777/scott-syndrome xsd:anyURI {source="GARD:0004777"} [Term] id: MONDO:0009889 name: autosomal recessive polycystic kidney disease def: "An inherited disorder characterized by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement." [Orphanet:731] subset: ordo_disease {source="Orphanet:731"} synonym: "AR-PKD" EXACT [Orphanet:731] synonym: "ARPKD" EXACT ABBREVIATION [DOID:0110861, MONDO:Lexical] synonym: "autosomal recessive polycystic kidney" EXACT [NCIT:C84579] synonym: "PKHD1" RELATED ABBREVIATION [DOID:0110861] synonym: "polycystic kidney and hepatic disease 1" NARROW [DOID:0110861] synonym: "polycystic kidney disease, autosomal recessive" EXACT [MONDO:Lexical, MONDO:patterns/autosomal_recessive] synonym: "polycystic kidney disease, infantile type" EXACT [NCIT:C84579] synonym: "polycystic kidney disease, infantile, type I" NARROW [DOID:0110861] xref: DOID:0110861 {source="MONDO:equivalentTo"} xref: ICD9:753.14 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10036047 {source="Orphanet:731", source="Orphanet:731/e"} xref: NCIT:C84579 {source="MONDO:equivalentTo"} xref: Orphanet:731 {source="MONDO:equivalentTo", source="OMIM:263200", source="DOID:0110861"} xref: SCTID:28770003 {source="MONDO:equivalentTo"} xref: UMLS:C0085548 {source="NCIT:C84579", source="Orphanet:731", source="MONDO:equivalentTo", source="Orphanet:731/e", source="MONDO:ncbi_mim2gene_medline", source="OMIM:263200", source="DOID:0110861"} is_a: EFO:0008620 {source="NCIT:C84579"} ! Polycystic Kidney Disease is_a: EFO:1000017 {source="DOID:0110861", source="MONDO:Redundant"} ! autosomal recessive disease property_value: closeMatch http://identifiers.org/meddra/10036047 property_value: exactMatch DOID:0110861 property_value: exactMatch http://identifiers.org/snomedct/28770003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085548 property_value: exactMatch NCIT:C84579 property_value: exactMatch Orphanet:731 [Term] id: MONDO:0009892 name: Chuvash polycythemia def: "Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death." [Orphanet:238557] subset: ordo_disease {source="Orphanet:238557"} synonym: "autosomal recessive benign erythrocytosis" EXACT [DOID:0060474] synonym: "Chuvash erythrocytosis" RELATED [Orphanet:238557] synonym: "Chuvash erythromatosis" EXACT [DOID:0060474] synonym: "Chuvash polycythemia" EXACT [Orphanet:238557] synonym: "Chuvash type polycythemia" EXACT [DOID:0060474] synonym: "ECYT2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:263400] synonym: "erythrocytosis, autosomal recessive benign" RELATED [OMIM:263400] synonym: "erythrocytosis, familial, 2" RELATED [MONDO:Lexical, OMIM:263400] synonym: "erythrocytosis, familial, type 2" EXACT [MONDORULE:1, OMIM:263400] synonym: "familial erythrocytosis 2" EXACT [DOID:0060474] synonym: "familial polycythemia caused by mutation in VHL" EXACT [MONDO:design_pattern] synonym: "polycythemia, Chuvash type" RELATED [OMIM:263400] synonym: "polycythemia, VHL-dependent" RELATED [OMIM:263400] synonym: "VHL familial polycythemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Von Hippel-Lindau-dependent polycythemia" EXACT [Orphanet:238557] xref: DOID:0060474 {source="MONDO:equivalentTo"} xref: MESH:C563918 {source="MONDO:equivalentTo"} xref: OMIM:263400 {source="DOID:0060474", source="Orphanet:238557", source="MONDO:equivalentTo", source="Orphanet:238557/e"} xref: Orphanet:238557 {source="DOID:0060474", source="MONDO:equivalentTo", source="OMIM:263400"} xref: UMLS:C1837915 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:263400"} is_a: MONDO:0001115 {source="DC-OMIM:263400", source="DOID:0060474", source="MONDO:Redundant", source="OMIM:263400"} ! familial polycythemia is_a: MONDO:0016540 {source="Orphanet:238557"} ! congenital secondary polycythemia property_value: exactMatch DOID:0060474 property_value: exactMatch http://identifiers.org/mesh/C563918 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837915 property_value: exactMatch https://omim.org/entry/263400 property_value: exactMatch Orphanet:238557 [Term] id: MONDO:0009894 name: short-rib thoracic dysplasia 6 with or without polydactyly def: "A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia." [NCIT:C122654] synonym: "Majewski syndrome" EXACT [DOID:0110092, OMIM:263520] synonym: "polydactyly with neonatal chondrodystrophy type II" EXACT [NCIT:C122654] synonym: "polydactyly with neonatal chondrodystrophy, type 2" RELATED [OMIM:263520] synonym: "polydactyly with neonatal chondrodystrophy, type II" EXACT [DOID:0110092] synonym: "short rib-polydactyly syndrome type II" EXACT [NCIT:C122654] synonym: "short rib-polydactyly syndrome type IIA" EXACT [DOID:0110092] synonym: "short rib-polydactyly syndrome, type 2" RELATED [OMIM:263520] synonym: "short rib-polydactyly syndrome, type 2A" RELATED [OMIM:263520] synonym: "short-rib thoracic dysplasia 6 with or without polydactyly" EXACT [MONDO:Lexical, OMIM:263520] synonym: "Srps, type 2" RELATED [OMIM:263520] synonym: "SRPS2A" EXACT ABBREVIATION [DOID:0110092] synonym: "SRTD6" EXACT ABBREVIATION [DOID:0110092, MONDO:Lexical, OMIM:263520] xref: DOID:0110092 {source="MONDO:equivalentTo"} xref: NCIT:C122654 {source="MONDO:equivalentTo"} xref: OMIM:263520 {source="DOID:0110092", source="MONDO:equivalentTo"} is_a: MONDO:0018770 {source="DOID:0110092", source="OMIM:263520"} ! Jeune syndrome is_a: MONDO:0019662 {source="Orphanet:93269/btnt"} ! short rib-polydactyly syndrome, Majewski type property_value: exactMatch DOID:0110092 property_value: exactMatch https://omim.org/entry/263520 property_value: exactMatch NCIT:C122654 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0009895 name: postaxial polydactyly-dental and vertebral anomalies syndrome def: "Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977." [Orphanet:2916] subset: ordo_malformation_syndrome {source="Orphanet:2916"} synonym: "polydactyly, postaxial, with dental and vertebral anomalies" RELATED [OMIM:263540] xref: MESH:C564880 {source="MONDO:equivalentTo"} xref: OMIM:263540 {source="Orphanet:2916/e", source="MONDO:equivalentTo", source="Orphanet:2916"} xref: Orphanet:2916 {source="MONDO:equivalentTo", source="OMIM:263540"} xref: UMLS:C1849732 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:263540", source="Orphanet:2916"} is_a: MONDO:0021147 {source="Orphanet:2916", source="Orphanet:2916/inferred"} ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C564880 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849732 property_value: exactMatch https://omim.org/entry/263540 property_value: exactMatch Orphanet:2916 [Term] id: MONDO:0009897 name: adult polyglucosan body disease def: "Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." [Orphanet:206583] subset: gard_rare {source="GARD:0000108"} subset: ordo_clinical_subtype {source="Orphanet:206583"} synonym: "APBD" EXACT ABBREVIATION [Orphanet:206583] synonym: "APBN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:263570] synonym: "polyglucosan body disease, adult" RELATED [GARD:0000108] synonym: "polyglucosan body disease, adult form" RELATED [OMIM:263570] synonym: "polyglucosan body neuropathy, adult form" RELATED [MONDO:Lexical, OMIM:263570] xref: MESH:C564878 {source="MONDO:equivalentTo"} xref: OMIM:263570 {source="Orphanet:206583/e", source="MONDO:equivalentTo", source="Orphanet:206583"} xref: Orphanet:206583 {source="MONDO:equivalentTo", source="OMIM:263570"} xref: SCTID:721099001 {source="MONDO:equivalentTo"} is_a: MONDO:0009292 {source="Orphanet:206583"} ! glycogen storage disease due to glycogen branching enzyme deficiency is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy property_value: exactMatch http://identifiers.org/mesh/C564878 property_value: exactMatch http://identifiers.org/snomedct/721099001 property_value: exactMatch https://omim.org/entry/263570 property_value: exactMatch Orphanet:206583 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/108/polyglucosan-body-disease-adult xsd:anyURI {source="GARD:0000108"} [Term] id: MONDO:0009900 name: polysyndactyly-cardiac malformation syndrome def: "Polysyndactyly-cardiac malformation syndrome is characterized by polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts)." [Orphanet:2934] subset: ordo_malformation_syndrome {source="Orphanet:2934"} synonym: "Bonneau syndrome" EXACT [OMIM:263630, Orphanet:2934] synonym: "polysyndactyly cardiac malformation" RELATED [GARD:0004428] synonym: "polysyndactyly with CARDIAC malformation" RELATED [OMIM:263630] xref: MESH:C564875 {source="MONDO:equivalentTo"} xref: OMIM:263630 {source="Orphanet:2934/e", source="MONDO:equivalentTo", source="Orphanet:2934"} xref: Orphanet:2934 {source="MONDO:equivalentTo", source="OMIM:263630"} xref: SCTID:724066002 {source="MONDO:equivalentTo"} xref: UMLS:C1849719 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:263630", source="Orphanet:2934"} is_a: MONDO:0015161 {source="Orphanet:2934"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C564875 property_value: exactMatch http://identifiers.org/snomedct/724066002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849719 property_value: exactMatch https://omim.org/entry/263630 property_value: exactMatch Orphanet:2934 [Term] id: MONDO:0009901 name: Bartsocas-Papas syndrome 1 def: "A rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported." [https://orcid.org/0000-0001-5208-3432, Orphanet:1234] subset: ordo_malformation_syndrome {source="Orphanet:1234"} synonym: "autosomal recessive popliteal pterygium syndrome" EXACT [Orphanet:1234] synonym: "Bartsocas Papas syndrome" EXACT [GARD:0004436] synonym: "Bartsocas-Papas syndrome" EXACT [Orphanet:1234] synonym: "BPS" RELATED ABBREVIATION [GARD:0004436] synonym: "lethal popliteal pterygium syndrome" EXACT [Orphanet:1234] synonym: "multiple pterygium syndrome, Aslan type" RELATED [OMIM:263650] synonym: "popliteal pterygium syndrome lethal type" RELATED [GARD:0004436] synonym: "popliteal pterygium syndrome, Bartsocas-Papas type" RELATED [GARD:0004436] synonym: "popliteal pterygium syndrome, Bartsocas-Papas type 1" EXACT [OMIM:263650, OMIM:genemap2] synonym: "popliteal pterygium syndrome, lethal type" EXACT [OMIM:263650] synonym: "pterygium popliteal lethal type" RELATED [GARD:0004436] synonym: "pterygium, popliteal, lethal type" RELATED [OMIM:263650] xref: MESH:C564874 {source="MONDO:equivalentTo"} xref: NCIT:C168990 {source="MONDO:equivalentTo"} xref: OMIM:263650 {source="Orphanet:1234", source="MONDO:equivalentTo", source="Orphanet:1234/e"} xref: Orphanet:1234 {source="MONDO:equivalentTo", source="OMIM:263650"} xref: SCTID:722376008 {source="MONDO:equivalentTo"} xref: UMLS:C1849718 {source="Orphanet:1234", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:263650"} is_a: MONDO:0017435 {source="DC-OMIM:263650", source="Orphanet:1234"} ! popliteal pterygium syndrome is_a: MONDO:0018731 {source="Orphanet:1234"} ! lethal multiple congenital anomalies/dysmorphic syndrome is_a: MONDO:0019287 {source="Orphanet:1234"} ! ectodermal dysplasia syndrome is_a: MONDO:0043009 {source="MONDO:Redundant", source="Orphanet:1234"} ! hereditary lethal multiple congenital anomalies/dysmorphic syndrome property_value: exactMatch http://identifiers.org/mesh/C564874 property_value: exactMatch http://identifiers.org/snomedct/722376008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849718 property_value: exactMatch https://omim.org/entry/263650 property_value: exactMatch NCIT:C168990 property_value: exactMatch Orphanet:1234 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009902 name: cutaneous porphyria def: "Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis." [Orphanet:79277] subset: ordo_disease {source="Orphanet:79277"} synonym: "CEP" EXACT ABBREVIATION [Orphanet:79277] synonym: "Cep" RELATED [OMIM:263700] synonym: "congenital erythropoietic porphyria" RELATED [Orphanet:79277] synonym: "congenital porphyria" RELATED [GARD:0004446] synonym: "cutaneous porphyria" EXACT [] synonym: "erythropoietic porphyria" EXACT [DOID:13271] synonym: "Gunther disease" RELATED [OMIM:263700] synonym: "Günther disease" EXACT [Orphanet:79277] synonym: "porphyria, congenital erythropoietic" RELATED [OMIM:263700] synonym: "uroporphyrinogen 3 synthase deficiency" RELATED [OMIM:263700] synonym: "uroporphyrinogen III synthase, deficiency of" RELATED [GARD:0004446] synonym: "Uros deficiency" RELATED [OMIM:263700] xref: DOID:13271 {source="MONDO:equivalentTo"} xref: MESH:D017092 {source="DOID:13271", source="MONDO:equivalentTo"} xref: NCIT:C84697 {source="DOID:13271", source="MONDO:equivalentTo"} xref: OMIM:263700 {source="Orphanet:79277/e", source="DOID:13271", source="MONDO:equivalentTo", source="Orphanet:79277"} xref: Orphanet:79277 {source="MONDO:equivalentTo", source="OMIM:263700"} xref: SCTID:67312003 {source="DOID:13271", source="MONDO:equivalentTo"} is_a: MONDO:0003689 ! familial hemolytic anemia is_a: MONDO:0019142 {source="DC-OMIM:263700", source="DOID:13271", source="MESH:D017092", source="NCIT:C84697", source="Orphanet:79277"} ! inherited porphyria is_a: MONDO:0020585 {source="MONDO:0020104-obsoleted"} ! anemia due to erythrocyte enzyme disorder property_value: exactMatch DOID:13271 property_value: exactMatch http://identifiers.org/mesh/D017092 property_value: exactMatch http://identifiers.org/snomedct/67312003 property_value: exactMatch https://omim.org/entry/263700 property_value: exactMatch NCIT:C84697 property_value: exactMatch Orphanet:79277 [Term] id: MONDO:0009903 name: postaxial acrofacial dysostosis def: "Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis characterized by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." [Orphanet:246] subset: ordo_malformation_syndrome {source="Orphanet:246"} synonym: "acrofacial dysostosis, Genee-Wiedmann type" EXACT [Orphanet:246] synonym: "Genee-Wiedemann acrofacial dysostosis" RELATED [GARD:0008410] synonym: "Genee-Wiedemann syndrome" RELATED [OMIM:263750] synonym: "GWAFD" RELATED ABBREVIATION [GARD:0008410] synonym: "Mandibulfacial dysostosis with postaxial limb anomalies" EXACT [Orphanet:246] synonym: "Miller syndrome" EXACT [OMIM:263750, Orphanet:246] synonym: "POADS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:263750, Orphanet:246] synonym: "POADS syndrome" RELATED [GARD:0008410] synonym: "postaxial acrodysostosis" EXACT [Orphanet:246] synonym: "postaxial acrofacial dysostosis" EXACT [MONDO:Lexical, OMIM:263750] synonym: "postaxial acrofacial dysostosis (POADS) syndrome" RELATED [GARD:0008410] synonym: "Wildervanck-Smith syndrome" RELATED [GARD:0008410] xref: DOID:0111259 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537680 {source="MONDO:equivalentTo"} xref: OMIM:263750 {source="Orphanet:246", source="MONDO:equivalentTo", source="Orphanet:246/e"} xref: Orphanet:246 {source="MONDO:equivalentTo", source="OMIM:263750"} xref: SCTID:66038001 {source="MONDO:equivalentTo"} xref: UMLS:C0265257 {source="Orphanet:246", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:263750"} is_a: MONDO:0015161 {source="Orphanet:246"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015334 {source="Orphanet:246"} ! branchial arch or oral-acral syndrome is_a: MONDO:0018237 {source="Orphanet:246"} ! acrofacial dysostosis is_a: MONDO:0020157 {source="Orphanet:246"} ! syndromic palpebral coloboma is_a: MONDO:0020162 {source="Orphanet:246"} ! secondary ectropion is_a: MONDO:0800085 {source="PMID:31633310"} ! dysostosis with predominant craniofacial involvement property_value: exactMatch DOID:0111259 property_value: exactMatch http://identifiers.org/mesh/C537680 property_value: exactMatch http://identifiers.org/snomedct/66038001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265257 property_value: exactMatch https://omim.org/entry/263750 property_value: exactMatch Orphanet:246 property_value: excluded_subClassOf MONDO:0015501 {source="Orphanet:246"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0009904 name: Gitelman syndrome def: "Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion." [Orphanet:358] subset: gard_rare {source="GARD:0008547"} subset: ordo_disease {source="Orphanet:358"} synonym: "familial hypokalemia-hypomagnesemia" RELATED [GARD:0008547] synonym: "Gitelman syndrome" EXACT [OMIM:263800] synonym: "Gitelman's syndrome" RELATED [GARD:0008547] synonym: "GTLMNS" RELATED ABBREVIATION [OMIM:263800] synonym: "hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria" EXACT [DOID:0050450, OMIM:263800] synonym: "Potassium and magnesium depletion" RELATED [OMIM:263800] synonym: "primary renal tubular hypokalemic hypomagnesemia with hypocalciuria" EXACT [Orphanet:358] xref: DOID:0050450 {source="MONDO:equivalentTo"} xref: ICD9:275.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10062906 {source="Orphanet:358", source="Orphanet:358/e"} xref: MESH:D053579 {source="Orphanet:358", source="MONDO:equivalentTo", source="Orphanet:358/e", source="DOID:0050450"} xref: NCIT:C84730 {source="MONDO:equivalentTo", source="DOID:0050450"} xref: OMIM:263800 {source="Orphanet:358", source="MONDO:equivalentTo", source="Orphanet:358/e", source="DOID:0050450"} xref: Orphanet:358 {source="OMIM:263800", source="MONDO:equivalentTo"} xref: SCTID:707756004 {source="MONDO:equivalentTo", source="DOID:0050450"} xref: UMLS:C0268450 {source="OMIM:263800", source="Orphanet:358", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:358/e", source="DOID:0050450", source="NCIT:C84730"} is_a: EFO:1000647 {source="DOID:0050450", source="MESH:D053579"} ! renal tubular transport disease is_a: MONDO:0002254 {source="NCIT:C84730"} ! syndromic disease is_a: MONDO:0015962 {source="Orphanet:358"} ! inherited renal tubular disease property_value: closeMatch http://identifiers.org/meddra/10062906 property_value: exactMatch DOID:0050450 property_value: exactMatch http://identifiers.org/mesh/D053579 property_value: exactMatch http://identifiers.org/snomedct/707756004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268450 property_value: exactMatch https://omim.org/entry/263800 property_value: exactMatch NCIT:C84730 property_value: exactMatch Orphanet:358 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8547/gitelman-syndrome xsd:anyURI {source="GARD:0008547"} [Term] id: MONDO:0009905 name: urban-Rogers-Meyer syndrome def: "This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity." [Orphanet:3409] subset: ordo_malformation_syndrome {source="Orphanet:3409"} synonym: "intellectual disability-short stature-hand contractures-genital anomalies syndrome" EXACT [Orphanet:3409] synonym: "Prader-Willi habitus, osteopenia, and camptodactyly" RELATED [OMIM:264010] synonym: "Prader-Willi habitus-osteopenia-camptodactyly syndrome" EXACT [Orphanet:3409] synonym: "urban-Rogers-Meyer syndrome" EXACT [OMIM:264010] xref: MESH:C538276 {source="MONDO:equivalentTo"} xref: OMIM:264010 {source="Orphanet:3409/e", source="MONDO:equivalentTo", source="Orphanet:3409"} xref: Orphanet:3409 {source="MONDO:equivalentTo", source="OMIM:264010"} xref: SCTID:716334004 {source="MONDO:equivalentTo"} xref: UMLS:C0796189 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:264010", source="Orphanet:3409"} is_a: MONDO:0015159 {source="Orphanet:3409"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C538276 property_value: exactMatch http://identifiers.org/snomedct/716334004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796189 property_value: exactMatch https://omim.org/entry/264010 property_value: exactMatch Orphanet:3409 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3409"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0009908 name: pterin-4 alpha-carbinolamine dehydratase 1 deficiency def: "Pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1) deficiency is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency, characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCBD1 is inherited in an autosomal recessive manner." [Orphanet:1578] comment: This was previously labeled dehydratase deficiency, but based on expert recommendations, the label "dehydratase deficiency" is inappropriate for this entity as it is not unique. PCBD1 encodes a dehydratase, however, the previous label could cause confusion over which dehydratase is deficient in the proband. subset: ordo_clinical_subtype {source="Orphanet:1578"} synonym: "CADH deficiency" EXACT [OMIM:264070, Orphanet:1578] synonym: "dehydratase deficiency" EXACT [https://clinicalgenome.org/affiliation/40011/, Orphanet:1578] synonym: "HPABH4D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:264070] synonym: "hyperphenylalaninemia due to dehydratase deficiency" EXACT [Orphanet:1578] synonym: "hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency" EXACT [Orphanet:1578] synonym: "hyperphenylalaninemia with primapterinuria" EXACT [OMIM:264070, Orphanet:1578] synonym: "hyperphenylalaninemia, BH4-deficient, D" RELATED [MONDO:Lexical, OMIM:264070] synonym: "hyperphenylalaninemia, Bh4-deficient, type D" EXACT [MONDORULE:1, OMIM:264070] synonym: "hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-Alpha-carbinolamine dehydratase deficiency" RELATED [OMIM:264070] synonym: "PCBD deficiency" EXACT [OMIM:264070, Orphanet:1578] synonym: "PCBD1 deficiency" EXACT [https://clinicalgenome.org/affiliation/40011/] synonym: "PCD deficiency" EXACT [https://clinicalgenome.org/affiliation/40011/] synonym: "pterin-4 alpha-carbinolamine dehydratase 1 deficiency" EXACT [] synonym: "pterin-4 alpha-carbinolamine dehydratase deficiency" RELATED [Orphanet:1578] synonym: "tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency" RELATED [GARD:0002843] xref: DOID:0081131 {source="MONDO:equivalentTo"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538382 {source="MONDO:equivalentTo"} xref: OMIM:264070 {source="MONDO:equivalentTo", source="Orphanet:1578", source="Orphanet:1578/e"} xref: Orphanet:1578 {source="OMIM:264070", source="MONDO:equivalentTo"} xref: SCTID:124646004 {source="MONDO:equivalentTo"} is_a: MONDO:0016543 {source="DC-OMIM:264070", source="Orphanet:1578"} ! hyperphenylalaninemia due to tetrahydrobiopterin deficiency property_value: exactMatch DOID:0081131 property_value: exactMatch http://identifiers.org/mesh/C538382 property_value: exactMatch http://identifiers.org/snomedct/124646004 property_value: exactMatch https://omim.org/entry/264070 property_value: exactMatch Orphanet:1578 [Term] id: MONDO:0009910 name: Wiedemann-Rautenstrauch syndrome def: "Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." [Orphanet:3455] subset: ordo_malformation_syndrome {source="Orphanet:3455"} synonym: "neonatal progeroid syndrome" EXACT [Orphanet:3455] synonym: "progeroid syndrome neonatal" RELATED [GARD:0000330] synonym: "progeroid syndrome, neonatal" RELATED [OMIM:264090] synonym: "Wiedemann Rautenstrauch syndrome" RELATED [GARD:0000330] synonym: "Wiedemann-Rautenstrauch syndrome" EXACT [OMIM:264090] xref: DOID:0081333 {source="MONDO:equivalentTo"} xref: ICD9:259.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536423 {source="Orphanet:3455", source="MONDO:equivalentTo", source="Orphanet:3455/e"} xref: NCIT:C121565 {source="MONDO:equivalentTo"} xref: OMIM:264090 {source="Orphanet:3455", source="MONDO:equivalentTo", source="Orphanet:3455/e"} xref: Orphanet:3455 {source="MONDO:equivalentTo", source="OMIM:264090"} xref: SCTID:238874008 {source="MONDO:equivalentTo"} xref: UMLS:C0406586 {source="Orphanet:3455", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3455/e", source="NCIT:C121565", source="OMIM:264090"} is_a: MONDO:0015159 {source="Orphanet:3455"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0020087 {source="Orphanet:3455"} ! hereditary lipodystrophy is_a: MONDO:0020162 {source="Orphanet:3455"} ! secondary ectropion is_a: MONDO:0020732 {source="MONDO:OMIMPS"} ! progeria is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. property_value: exactMatch DOID:0081333 property_value: exactMatch http://identifiers.org/mesh/C536423 property_value: exactMatch http://identifiers.org/snomedct/238874008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406586 property_value: exactMatch https://omim.org/entry/264090 property_value: exactMatch NCIT:C121565 property_value: exactMatch Orphanet:3455 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3455"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0009914 name: pseudodiastrophic dysplasia def: "Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy." [Orphanet:85174] subset: gard_rare {source="GARD:0009463"} subset: ordo_malformation_syndrome {source="Orphanet:85174"} synonym: "Pseudodiastrophic dwarfism" RELATED [GARD:0009463] synonym: "pseudodiastrophic dysplasia" EXACT [OMIM:264180] xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535826 {source="Orphanet:85174/e", source="MONDO:equivalentTo", source="Orphanet:85174"} xref: OMIM:264180 {source="Orphanet:85174/e", source="MONDO:equivalentTo", source="Orphanet:85174"} xref: Orphanet:85174 {source="OMIM:264180", source="MONDO:equivalentTo"} xref: SCTID:254058002 {source="MONDO:equivalentTo"} xref: UMLS:C0432206 {source="OMIM:264180", source="Orphanet:85174/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:85174"} is_a: MONDO:0019755 {source="MONDO:0015332-obsoleted"} ! developmental defect during embryogenesis is_a: MONDO:0800086 {source="PMID:31633310"} ! primary bone dysplasia with multiple joint dislocations property_value: exactMatch http://identifiers.org/mesh/C535826 property_value: exactMatch http://identifiers.org/snomedct/254058002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432206 property_value: exactMatch https://omim.org/entry/264180 property_value: exactMatch Orphanet:85174 property_value: excluded_subClassOf MONDO:0019700 {source="Orphanet:294049", source="Orphanet:85174"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9463/pseudodiastrophic-dysplasia xsd:anyURI {source="GARD:0009463"} [Term] id: MONDO:0009915 name: 46,XX disorder of sex development-skeletal anomalies syndrome subset: ordo_malformation_syndrome {source="Orphanet:2975"} synonym: "female pseudohermaphroditism-skeletal anomalies syndrome" EXACT [Orphanet:2975] synonym: "pseudohermaphroditism, female, with skeletal anomalies" RELATED [OMIM:264270] xref: MESH:C564869 {source="MONDO:equivalentTo"} xref: OMIM:264270 {source="MONDO:equivalentTo", source="Orphanet:2975", source="Orphanet:2975/e"} xref: Orphanet:2975 {source="OMIM:264270", source="MONDO:equivalentTo"} xref: UMLS:C1849696 {source="OMIM:264270", source="MONDO:equivalentTo", source="Orphanet:2975", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0017576 {source="Orphanet:2975"} ! 46,XX disorder of sex development property_value: exactMatch http://identifiers.org/mesh/C564869 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849696 property_value: exactMatch https://omim.org/entry/264270 property_value: exactMatch Orphanet:2975 [Term] id: MONDO:0009916 name: 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency def: "Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production." [NCIT:C120203] subset: ordo_disease {source="Orphanet:752"} synonym: "17 alpha ketosteroid reductase deficiency of testis" RELATED [GARD:0005659] synonym: "17 alpha KSR deficiency" RELATED [GARD:0005659] synonym: "17 Beta HSD3 deficiency" EXACT [NCIT:C120203] synonym: "17 beta HSD3 deficiency" EXACT [NCIT:C120203] synonym: "17 beta hydroxysteroid dehydrogenase III deficiency" RELATED [GARD:0005659] synonym: "17-Beta hydroxysteroid dehydrogenase 3 deficiency" RELATED [OMIM:264300] synonym: "17-beta hydroxysteroid dehydrogenase 3 deficiency" RELATED [GARD:0005659] synonym: "17-BETA hydroxysteroid dehydrogenase III deficiency" RELATED [OMIM:264300] synonym: "17-beta-hydroxysteroid dehydrogenase 3 deficiency" EXACT [Orphanet:752] synonym: "17-ketoreductase deficiency" EXACT [Orphanet:752] synonym: "17-ketosteroid reductase deficiency of testis" RELATED [OMIM:264300] synonym: "17-ketosteroidreductase deficiency" EXACT [Orphanet:752] synonym: "17-KSR deficiency" RELATED [OMIM:264300] synonym: "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" EXACT [] synonym: "Male pseudoherma-phroditism with gynecomastia" RELATED [GARD:0005659] synonym: "Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" EXACT [Orphanet:752] synonym: "neutral 17 beta hydroxysteroid oxidoreductase deficiency" RELATED [GARD:0005659] synonym: "neutral 17-Beta-hydroxysteroid oxidoreductase deficiency" RELATED [OMIM:264300] synonym: "polycystic ovarian disease due to 17-ketosteroid reductase deficiency" RELATED [OMIM:264300] synonym: "polycystic ovary syndrome due to 17-ketosteroid reductase deficiency" RELATED [OMIM:264300] synonym: "pseudohermaphroditism, Male, with gynecomastia" RELATED [OMIM:264300] xref: DOID:0112248 {source="MONDO:equivalentTo"} xref: MESH:C537805 {source="MONDO:equivalentTo"} xref: MESH:C564868 {source="MONDO:equivalentTo"} xref: NCIT:C120203 {source="MONDO:equivalentTo"} xref: OMIM:264300 {source="Orphanet:752", source="MONDO:equivalentTo", source="Orphanet:752/e"} xref: Orphanet:752 {source="MONDO:equivalentTo", source="OMIM:264300"} xref: SCTID:50658006 {source="MONDO:equivalentTo"} is_a: MONDO:0017969 ! 46,XY disorder of sex development of endocrine origin relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch DOID:0112248 property_value: exactMatch http://identifiers.org/mesh/C537805 property_value: exactMatch http://identifiers.org/mesh/C564868 property_value: exactMatch http://identifiers.org/snomedct/50658006 property_value: exactMatch https://omim.org/entry/264300 property_value: exactMatch NCIT:C120203 property_value: exactMatch Orphanet:752 [Term] id: MONDO:0009917 name: autosomal recessive pseudohypoaldosteronism type 1 def: "Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs." [Orphanet:171876] subset: gard_rare {source="GARD:0004552"} subset: ordo_clinical_subtype {source="Orphanet:171876"} synonym: "autosomal recessive PHA 1" EXACT [DOID:0060854] synonym: "autosomal recessive pseudohypoaldosteronism type 1" EXACT [Orphanet:171876] synonym: "generalised PHA1" RELATED OMO:0003005 [] synonym: "generalised pseudohypoaldosteronism type 1" RELATED OMO:0003005 [] synonym: "generalized PHA1" RELATED [GARD:0004552] synonym: "generalized pseudohypoaldosteronism type 1" RELATED [GARD:0004552] synonym: "PHA I, autosomal recessive" RELATED [OMIM:264350] synonym: "PHA1B" EXACT ABBREVIATION [DOID:0060854, MONDO:Lexical, OMIM:264350] synonym: "pseudohypoaldosteronism type 1 autosomal recessive" RELATED [GARD:0004552] synonym: "pseudohypoaldosteronism type 1, recessive" RELATED [GARD:0004552] synonym: "pseudohypoaldosteronism, type I, autosomal recessive" RELATED [MONDO:Lexical, OMIM:264350] xref: DOID:0060854 {source="MONDO:equivalentTo"} xref: OMIM:264350 {source="Orphanet:171876/e", source="MONDO:equivalentTo", source="DOID:0060854", source="Orphanet:171876"} xref: Orphanet:171876 {source="OMIM:264350", source="MONDO:equivalentTo", source="DOID:0060854"} is_a: MONDO:0019161 {source="Orphanet:171876"} ! pseudohypoaldosteronism type 1 property_value: exactMatch DOID:0060854 property_value: exactMatch https://omim.org/entry/264350 property_value: exactMatch Orphanet:171876 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4552/autosomal-recessive-pseudohypoaldosteronism-type-1 xsd:anyURI {source="GARD:0004552"} [Term] id: MONDO:0009919 name: peroxisomal acyl-CoA oxidase deficiency def: "Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy." [Orphanet:2971] subset: ordo_disease {source="Orphanet:2971"} synonym: "ACOX1 deficiency" EXACT [https://www.clinicalgenome.org/affiliation/40049/] synonym: "peroxisomal acyl-CoA oxidase deficiency" EXACT [OMIM:264470] synonym: "peroxisomal acyl-coenzyme A oxidase" EXACT [DOID:0050797] synonym: "pseudo-NALD" EXACT [Orphanet:2971] synonym: "pseudo-neonatal adrenoleukodystrophy" EXACT [Orphanet:2971] synonym: "Pseudoadrenoleukodystrophy" EXACT [Orphanet:2971] synonym: "Pseudoneonatal adrenoleukodystrophy" RELATED [OMIM:264470] synonym: "straight-chain acyl-Coa oxidase deficiency" RELATED [OMIM:264470] xref: DOID:0050797 {source="MONDO:equivalentTo"} xref: ICD9:255.41 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536662 {source="Orphanet:2971", source="DOID:0050797", source="MONDO:equivalentTo", source="Orphanet:2971/e"} xref: NCIT:C170437 {source="MONDO:equivalentTo"} xref: OMIM:264470 {source="Orphanet:2971", source="DOID:0050797", source="MONDO:equivalentTo", source="Orphanet:2971/e"} xref: Orphanet:2971 {source="OMIM:264470", source="MONDO:equivalentTo"} xref: SCTID:238069004 {source="MONDO:equivalentTo"} xref: UMLS:C1849678 {source="Orphanet:2971", source="DOID:0050797", source="OMIM:264470", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2971/e"} is_a: MONDO:0019233 {source="Orphanet:2971", source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of peroxisomal beta oxidation property_value: exactMatch DOID:0050797 property_value: exactMatch http://identifiers.org/mesh/C536662 property_value: exactMatch http://identifiers.org/snomedct/238069004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849678 property_value: exactMatch https://omim.org/entry/264470 property_value: exactMatch NCIT:C170437 property_value: exactMatch Orphanet:2971 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0009920 name: Acrootoocular syndrome def: "Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disk swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies." [Orphanet:2980] subset: ordo_malformation_syndrome {source="Orphanet:2980"} synonym: "acrootoocular syndrome" EXACT [OMIM:264475] synonym: "Aoo syndrome" RELATED [OMIM:264475] synonym: "pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies" RELATED [OMIM:264475] synonym: "pseudopapilledema-blepharophimosis-hand anomalies syndrome" EXACT [Orphanet:2980] xref: MESH:C564866 {source="MONDO:equivalentTo"} xref: OMIM:264475 {source="Orphanet:2980", source="MONDO:equivalentTo", source="Orphanet:2980/e"} xref: Orphanet:2980 {source="MONDO:equivalentTo", source="OMIM:264475"} xref: SCTID:720410001 {source="MONDO:equivalentTo"} xref: UMLS:C1849661 {source="Orphanet:2980", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:264475"} is_a: MONDO:0020158 {source="MONDO:0020169-obsoleted"} ! eyelids malposition disorder property_value: exactMatch http://identifiers.org/mesh/C564866 property_value: exactMatch http://identifiers.org/snomedct/720410001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849661 property_value: exactMatch https://omim.org/entry/264475 property_value: exactMatch Orphanet:2980 [Term] id: MONDO:0009921 name: holoprosencephaly-postaxial polydactyly syndrome def: "Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13." [Orphanet:2166] subset: ordo_malformation_syndrome {source="Orphanet:2166"} synonym: "holoprosencephaly polydactyly syndrome" RELATED [GARD:0000344] synonym: "holoprosencephaly-polydactyly syndrome" RELATED [OMIM:264480] synonym: "pseudo trisomy 13 syndrome" RELATED [GARD:0000344] synonym: "pseudo-trisomy 13 syndrome" EXACT [Orphanet:2166] synonym: "PSEUDOTRISOMY 13 syndrome" RELATED [OMIM:264480] synonym: "Young-Maders syndrome" RELATED [GARD:0000344] xref: MESH:C535829 {source="MONDO:equivalentTo"} xref: NCIT:C125418 {source="MONDO:equivalentTo"} xref: OMIM:264480 {source="Orphanet:2166", source="MONDO:equivalentTo", source="Orphanet:2166/e"} xref: Orphanet:2166 {source="OMIM:264480", source="MONDO:equivalentTo"} xref: SCTID:716091000 {source="MONDO:equivalentTo"} xref: UMLS:C1849649 {source="Orphanet:2166", source="OMIM:264480", source="MONDO:equivalentTo", source="Orphanet:2166/e", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C125418"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C125418"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:2166"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C535829 property_value: exactMatch http://identifiers.org/snomedct/716091000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849649 property_value: exactMatch https://omim.org/entry/264480 property_value: exactMatch NCIT:C125418 property_value: exactMatch Orphanet:2166 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2166"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0009923 name: 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency def: "A rare disorder of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis." [Orphanet:753] subset: ordo_disease {source="Orphanet:753"} synonym: "3-oxo-5 Alpha-steroid Delta 4-dehydrogenase deficiency" EXACT [NCIT:C98699] synonym: "46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency" EXACT [] synonym: "46,XY DSD due to 5-alpha-reductase 2 deficiency" EXACT [Orphanet:753] synonym: "5 Alpha steroid reductase 2 deficiency" EXACT [NCIT:C98699] synonym: "5-alpha reductase deficiency" RELATED [GARD:0005680] synonym: "familial incomplete Male pseudohermaphroditism, type 2" RELATED [OMIM:264600] synonym: "Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency" EXACT [Orphanet:753] synonym: "Male pseudohermaphroditism due to 5-Alpha-reductase deficiency" RELATED [OMIM:264600] synonym: "micropenis" RELATED [OMIM:264600] synonym: "PPSH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:264600] synonym: "pseudovaginal perineoscrotal hypospadias" EXACT [MONDO:Lexical, OMIM:264600, Orphanet:753] synonym: "steroid 5-alpha-reductase deficiency" EXACT [Orphanet:753] xref: MedDRA:10000029 {source="Orphanet:753", source="Orphanet:753/e"} xref: MESH:C535830 {source="MONDO:equivalentTo"} xref: NCIT:C98699 {source="MONDO:equivalentTo"} xref: OMIM:264600 {source="Orphanet:753", source="MONDO:equivalentTo", source="Orphanet:753/e"} xref: Orphanet:753 {source="MONDO:equivalentTo", source="OMIM:264600"} xref: SCTID:57514000 {source="MONDO:equivalentTo"} is_a: MONDO:0002525 {source="MONDO:Redundant", source="NCIT:C98699"} ! inherited lipid metabolism disorder is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0017969 ! 46,XY disorder of sex development of endocrine origin is_a: MONDO:0957025 ! hereditary 46,XY disorder of sex development relationship: has_characteristic MONDO:0021136 ! rare property_value: closeMatch http://identifiers.org/meddra/10000029 property_value: exactMatch http://identifiers.org/mesh/C535830 property_value: exactMatch http://identifiers.org/snomedct/57514000 property_value: exactMatch https://omim.org/entry/264600 property_value: exactMatch NCIT:C98699 property_value: exactMatch Orphanet:753 [Term] id: MONDO:0009924 name: vitamin D-dependent rickets, type 1 def: "Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia." [Orphanet:289157] subset: ordo_disease {source="Orphanet:289157"} synonym: "1 Alpha-hydroxylase deficiency" EXACT [NCIT:C131073] synonym: "1-alpha-hydroxylase deficiency" EXACT [Orphanet:289157] synonym: "hypocalcemic vitamin D-dependent rickets" EXACT [Orphanet:289157] synonym: "PDDRI" EXACT ABBREVIATION [Orphanet:289157] synonym: "pseudo vitamin-D deficient rickets" EXACT [NCIT:C131073] synonym: "pseudovitamin D-deficient rickets" EXACT [Orphanet:289157] synonym: "selective 1-alpha, 25-hydroxyvitamin D3 deficiency" EXACT [NCIT:C131073] synonym: "VDDI" EXACT ABBREVIATION [Orphanet:289157] synonym: "VDDR-I" EXACT [Orphanet:289157] synonym: "VDDR1" EXACT ABBREVIATION [NCIT:C131073] synonym: "vitamin D 1 Alpha-Hydroxylase deficiency" EXACT [NCIT:C131073] synonym: "vitamin D dependency, type 1" RELATED [OMIM:264700] synonym: "vitamin D dependent rickets type I" EXACT [Orphanet:289157] synonym: "vitamin D-dependency type I" EXACT [Orphanet:289157] synonym: "vitamin D-dependent rickets type 1" EXACT [NCIT:C131073] xref: MESH:C562688 {source="MONDO:equivalentTo"} xref: NCIT:C131073 {source="MONDO:equivalentTo"} xref: Orphanet:289157 {source="MONDO:equivalentTo", source="OMIM:264700"} xref: SCTID:67049004 {source="MONDO:equivalentTo"} is_a: MONDO:0017323 {source="Orphanet:289157"} ! hypocalcemic rickets is_a: MONDO:0024299 {source="MONDO:cjm"} ! vitamin D-dependent rickets property_value: exactMatch http://identifiers.org/mesh/C562688 property_value: exactMatch http://identifiers.org/snomedct/67049004 property_value: exactMatch NCIT:C131073 property_value: exactMatch Orphanet:289157 [Term] id: MONDO:0009925 name: autosomal recessive inherited pseudoxanthoma elasticum def: "An autosomal recessive form of PXE." [https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum] subset: gard_rare {source="GARD:0009643"} subset: ordo_disease {source="Orphanet:758"} synonym: "AR inherited pseudoxanthoma elasticum" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6601-2165] synonym: "Gronblad Strandberg syndrome" RELATED [GARD:0009643] synonym: "Gronblad-Strandberg syndrome" EXACT [DOID:2738, OMIM:264800] synonym: "Gronblad-Strandberg-Touraine syndrome" EXACT [Orphanet:758] synonym: "pseudoxanthoma elasticum" RELATED [MONDO:Lexical, OMIM:264800] synonym: "pseudoxanthoma elasticum, modifier of severity of" RELATED [OMIM:264800] synonym: "PXE" EXACT ABBREVIATION [MONDO:Lexical, OMIM:264800, Orphanet:758] synonym: "PXE, modifier of severity of" RELATED [OMIM:264800] xref: DOID:2738 {source="MONDO:equivalentTo"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10037150 {source="Orphanet:758", source="Orphanet:758/e"} xref: MESH:D011561 {source="MONDO:equivalentTo", source="Orphanet:758", source="DOID:2738", source="Orphanet:758/e"} xref: NCIT:C85036 {source="MONDO:equivalentTo", source="DOID:2738"} xref: OMIM:264800 {source="MONDO:equivalentTo", source="Orphanet:758", source="DOID:2738", source="Orphanet:758/e"} xref: Orphanet:758 {source="MONDO:equivalentTo", source="DOID:2738", source="OMIM:264800"} xref: SCTID:239140003 {source="MONDO:relatedTo", source="DOID:2738"} xref: SCTID:402782006 {source="MONDO:equivalentTo"} xref: SCTID:72744008 {source="MONDO:equivalentTo"} xref: UMLS:C0033847 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:758", source="DOID:2738", source="NCIT:C85036", source="Orphanet:758/e", source="OMIM:264800"} is_a: EFO:1000017 {source="DOID:2738", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0019292 {source="Orphanet:758", source="Orphanet:758/inferred"} ! dermis elastic tissue disorder is_a: MONDO:0023603 ! hereditary disorder of connective tissue is_a: MONDO:0100091 {source="https://github.com/monarch-initiative/mondo/issues/1046", source="https://orcid.org/0000-0002-6601-2165"} ! inherited pseudoxanthoma elasticum is_a: MONDO:0100118 ! hereditary skin disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0019110"} ! rare property_value: closeMatch http://identifiers.org/meddra/10037150 property_value: exactMatch DOID:2738 property_value: exactMatch http://identifiers.org/mesh/D011561 property_value: exactMatch http://identifiers.org/snomedct/402782006 property_value: exactMatch http://identifiers.org/snomedct/72744008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033847 property_value: exactMatch https://omim.org/entry/264800 property_value: exactMatch NCIT:C85036 property_value: exactMatch Orphanet:758 property_value: excluded_subClassOf MONDO:0005328 property_value: excluded_subClassOf MONDO:0016340 {source="Orphanet:758"} property_value: excluded_subClassOf MONDO:0019755 {source="MONDO:0015332-obsoleted"} property_value: excluded_subClassOf MONDO:0024308 {source="MONDO:Redundant"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum xsd:anyURI {source="GARD:0009643"} [Term] id: MONDO:0009926 name: autosomal recessive multiple pterygium syndrome def: "A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant." [NCIT:C101039] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2990"} synonym: "autosomal recessive multiple pterygium syndrome" EXACT [GARD:0007111] synonym: "autosomal recessive non-lethal multiple pterygium syndrome" EXACT [Orphanet:2990] synonym: "Escobar syndrome" EXACT [Orphanet:2990] synonym: "Escobar variant multiple pterygium syndrome" EXACT [GARD:0007111, Orphanet:2990] synonym: "EVMPS" EXACT ABBREVIATION [GARD:0007111, MONDO:Lexical, OMIM:265000, Orphanet:2990] synonym: "multiple pterygium syndrome" RELATED [GARD:0007111, OMIM:265000] synonym: "multiple pterygium syndrome Escobar type" RELATED [GARD:0007111] synonym: "multiple pterygium syndrome nonlethal type" RELATED [GARD:0007111] synonym: "multiple pterygium syndrome, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] synonym: "multiple pterygium syndrome, ESCOBAR variant" RELATED [MONDO:Lexical, OMIM:265000] synonym: "multiple pterygium syndrome, Nonlethal type" RELATED [OMIM:265000] synonym: "pterygium colli syndrome" RELATED [GARD:0007111, OMIM:265000] synonym: "pterygium syndrome" RELATED [GARD:0007111, OMIM:265000] synonym: "pterygium Universale" RELATED [OMIM:265000] synonym: "pterygium universale" RELATED [GARD:0007111] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C101039 {source="MONDO:equivalentTo"} xref: OMIM:265000 {source="Orphanet:2990", source="MONDO:equivalentTo", source="Orphanet:2990/e", source="GARD:0007111"} xref: Orphanet:2990 {source="MONDO:equivalentTo", source="OMIM:265000", source="GARD:0007111"} xref: SCTID:80773006 {source="MONDO:equivalentTo"} xref: UMLS:CN203342 {source="MONDO:equivalentTo"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C101039"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:2990"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0017415 {source="DC-OMIM:265000", source="MONDO:Redundant", source="Orphanet:2990"} ! multiple pterygium syndrome property_value: exactMatch http://identifiers.org/snomedct/80773006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203342 property_value: exactMatch https://omim.org/entry/265000 property_value: exactMatch NCIT:C101039 property_value: exactMatch Orphanet:2990 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7111/multiple-pterygium-syndrome-escobar-type xsd:anyURI {source="GARD:0007111"} [Term] id: MONDO:0009928 name: pulmonary alveolar microlithiasis def: "Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasismay also develop calcium phosphate deposits in other organs and tissue of the body. Though the course of the disease can be variable,many casesslowly progress to lung fibrosis, respiratory failure, or cor pulmonale. The only effective therapy is lung transplantation. In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and inherited in an autosomal recessive manner." [https://rarediseases.info.nih.gov/diseases/11894/pulmonary-alveolar-microlithiasis] subset: gard_rare {source="GARD:0011894"} subset: ordo_disease {source="Orphanet:60025"} synonym: "pulmonary alveolar microlithiasis" EXACT [OMIM:265100] xref: DOID:12117 {source="MONDO:equivalentTo"} xref: ICD10CM:J84.02 {source="DOID:12117", source="MONDO:equivalentTo"} xref: ICD9:516.2 {source="DOID:12117", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10037315 {source="Orphanet:60025", source="Orphanet:60025/e"} xref: MESH:C562405 {source="DOID:12117", source="MONDO:equivalentTo"} xref: OMIM:265100 {source="DOID:12117", source="Orphanet:60025", source="MONDO:equivalentTo", source="Orphanet:60025/e"} xref: Orphanet:60025 {source="MONDO:equivalentTo", source="OMIM:265100"} xref: SCTID:87153008 {source="DOID:12117", source="MONDO:equivalentTo"} xref: UMLS:C0155912 {source="DOID:12117", source="Orphanet:60025", source="MONDO:equivalentTo", source="OMIM:265100", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:60025/e"} is_a: EFO:0003818 {source="DOID:12117", source="MESH:C562405"} ! lung disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015510"} ! rare property_value: closeMatch http://identifiers.org/meddra/10037315 property_value: exactMatch DOID:12117 property_value: exactMatch http://identifiers.org/mesh/C562405 property_value: exactMatch http://identifiers.org/snomedct/87153008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155912 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/J84.02 property_value: exactMatch https://omim.org/entry/265100 property_value: exactMatch Orphanet:60025 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11894/pulmonary-alveolar-microlithiasis xsd:anyURI {source="GARD:0011894"} [Term] id: MONDO:0009929 name: neonatal acute respiratory distress due to SP-B deficiency subset: gard_rare subset: ordo_disease {source="Orphanet:217563"} synonym: "interstitial lung disease due to surfactant Protein B deficiency" EXACT [OMIM:265120] synonym: "interstitial lung disease, nonspecific, due to surfactant Protein B deficiency" RELATED [OMIM:265120] synonym: "neonatal acute respiratory distress due to surfactant protein B deficiency" EXACT [Orphanet:217563] synonym: "pulmonary alveolar proteinosis, congenital, 1" EXACT [OMIM:265120] synonym: "pulmonary surfactant protein B, deficiency of" RELATED [GARD:0004595] synonym: "SMDP1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:265120] synonym: "surfactant metabolism dysfunction, pulmonary, 1" EXACT [MONDO:Lexical, OMIM:265120] synonym: "surfactant metabolism dysfunction, pulmonary, type 1" EXACT [MONDORULE:1, OMIM:265120] xref: MESH:C566882 {source="MONDO:equivalentTo"} xref: OMIM:265120 {source="Orphanet:217563/e", source="MONDO:equivalentTo", source="Orphanet:217563"} xref: Orphanet:217563 {source="OMIM:265120", source="MONDO:equivalentTo"} xref: UMLS:C1968602 {source="OMIM:265120", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0012580 {source="OMIM:265120", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary pulmonary alveolar proteinosis is_a: MONDO:0020683 ! acute disease property_value: exactMatch http://identifiers.org/mesh/C566882 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1968602 property_value: exactMatch https://omim.org/entry/265120 property_value: exactMatch Orphanet:217563 [Term] id: MONDO:0009930 name: obsolete pulmonary arteriovenous malformation def: "OBSOLETE. Pulmonary arteriovenous malformation (PAVM) describes an anatomic communication between a pulmonary artery and a pulmonary vein leading to a right to left extracardiac shunt that can be asymptomatic or can lead to varying manifestations such as dyspnea, hemoptysis, and neurological symptoms." [Orphanet:2038] comment: Reason: is a phenotype and not a disease. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: HP:0006548 subset: ordo_morphological_anomaly {source="Orphanet:2038"} synonym: "arteriovenous fistula of pulmonary vessels" EXACT [NCIT:C99029] synonym: "PAVM" EXACT ABBREVIATION [Orphanet:2038] synonym: "pulmonar arteriovenous aneurysm" RELATED [GARD:0004584] synonym: "pulmonary arterio-veinous fistula" RELATED [GARD:0004584] synonym: "pulmonary arteriovenous fistula" EXACT [NCIT:C99029] synonym: "pulmonary arteriovenous fistulas" RELATED [OMIM:265140] synonym: "pulmonary arteriovenous malformation" EXACT [MONDO:ambiguous] synonym: "pulmonary arteriovenous malformation (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "pulmonary AV fistula" EXACT [NCIT:C99029] xref: HP:0006548 {source="MONDO:otherHierarchy"} xref: MedDRA:10037332 {source="Orphanet:2038", source="Orphanet:2038/e"} xref: MESH:C562404 {source="MONDO:obsoleteEquivalent"} xref: NCIT:C99029 {source="MONDO:obsoleteEquivalent"} xref: OMIM:265140 {source="MONDO:obsoleteEquivalent", source="Orphanet:2038", source="Orphanet:2038/e"} xref: Orphanet:2038 {source="OMIM:265140", source="MONDO:obsoleteEquivalent"} xref: SCTID:303070000 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0155675 {source="OMIM:265140", source="MONDO:obsoleteEquivalent", source="Orphanet:2038", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C99029"} property_value: closeMatch http://identifiers.org/meddra/10037332 property_value: exactMatch http://identifiers.org/mesh/C562404 property_value: exactMatch http://identifiers.org/snomedct/303070000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155675 property_value: exactMatch https://omim.org/entry/265140 property_value: exactMatch NCIT:C99029 property_value: exactMatch Orphanet:2038 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3637 xsd:anyURI property_value: IAO:0000589 "pulmonary arteriovenous malformation (disease)" xsd:string is_obsolete: true consider: HP:0006548 [Term] id: MONDO:0009933 name: congenital pulmonary lymphangiectasia def: "Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation." [Orphanet:2414] subset: gard_rare {source="GARD:0009900"} subset: ordo_disease {source="Orphanet:2414"} synonym: "congenital pulmonary lymphangiectasis" EXACT [NCIT:C99034] synonym: "CPL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:265300] synonym: "lymphangiectasia pulmonary congenital" RELATED [GARD:0009900] synonym: "lymphangiectasia, pulmonary, congenital" RELATED [MONDO:Lexical, OMIM:265300] synonym: "lymphangiomatosis pulmonary" RELATED [GARD:0009900] synonym: "lymphangiomatosis, pulmonary" RELATED [OMIM:265300] synonym: "pulmonary cystic lymphangiectasis" RELATED [OMIM:265300] synonym: "pulmonary lymphangiomatosis" EXACT [Orphanet:2414] xref: MESH:C537727 {source="MONDO:equivalentTo", source="Orphanet:2414", source="Orphanet:2414/e"} xref: NCIT:C99034 {source="MONDO:equivalentTo"} xref: OMIM:265300 {source="MONDO:equivalentTo", source="Orphanet:2414", source="Orphanet:2414/e"} xref: Orphanet:2414 {source="MONDO:equivalentTo", source="OMIM:265300"} xref: SCTID:45142002 {source="MONDO:equivalentTo"} xref: UMLS:C1849554 {source="MONDO:equivalentTo", source="NCIT:C99034", source="Orphanet:2414", source="MONDO:ncbi_mim2gene_medline", source="OMIM:265300", source="Orphanet:2414/e"} is_a: EFO:1001025 {source="MESH:C537727", source="NCIT:C99034"} ! lymphangiectasis is_a: MONDO:0015221 {source="Orphanet:2414"} ! non-syndromic respiratory or mediastinal malformation is_a: MONDO:0015930 {source="Orphanet:2414"} ! respiratory malformation is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch http://identifiers.org/mesh/C537727 property_value: exactMatch http://identifiers.org/snomedct/45142002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849554 property_value: exactMatch https://omim.org/entry/265300 property_value: exactMatch NCIT:C99034 property_value: exactMatch Orphanet:2414 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9900/congenital-pulmonary-lymphangiectasia xsd:anyURI {source="GARD:0009900"} [Term] id: MONDO:0009934 name: alveolar capillary dysplasia with misalignment of pulmonary veins def: "A rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension." [Orphanet:210122] comment: Editor note: MESH and NCIT split this, see NCIT:C98809 subset: gard_rare subset: ordo_disease {source="Orphanet:210122"} synonym: "ACDMPV" EXACT ABBREVIATION [MESH:C536590, MONDO:Lexical, OMIM:265380, Orphanet:210122] synonym: "alveolar capillary dysplasia" EXACT [NCIT:C98809] synonym: "alveolar capillary dysplasia with misalignment of pulmonary veins" EXACT [GARD:0008644, MESH:C536590, MONDO:Lexical, OMIM:265380, Orphanet:210122] synonym: "alveolar capillary dysplasia with misalignment of pulmonary veins and Other congenital anomalies" RELATED [OMIM:265380] synonym: "alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies" RELATED [MESH:C536590] synonym: "alveolar capillary dysplasia with misalignment of pulmonary vessels" EXACT [Orphanet:210122] synonym: "alveolar capillary dysplasia with pulmonary venous misalignment" RELATED [GARD:0008644] synonym: "congenital alveolar capillary dysplasia" EXACT [GARD:0008644, MESH:C536590] synonym: "congenital alveolar capillary dysplasia with misalignment of pulmonary veins" EXACT [DOID:13042] synonym: "familial persistent pulmonary hypertension of the newborn" RELATED [GARD:0008644] synonym: "fetal circulation" EXACT [DOID:13042] synonym: "foetal circulation" EXACT OMO:0003005 [] synonym: "persistent fetal circulation" RELATED [DOID:13042, ICD9CM:747.83] synonym: "persistent foetal circulation" RELATED OMO:0003005 [] synonym: "persistent foetal circulation syndrome" RELATED OMO:0003005 [] synonym: "persistent pulmonary hypertension of the newborn" RELATED [DOID:13042] synonym: "pulmonary hypertension, familial persistent of the newborn" RELATED [GARD:0008644] xref: DOID:13042 {source="EFO:1001103", source="MONDO:equivalentTo"} xref: EFO:1001103 {source="MONDO:equivalentTo"} xref: ICD9:747.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:747.83 {source="DOID:13042"} xref: MedDRA:10054726 {source="EFO:1001103"} xref: MESH:C536590 {source="MONDO:equivalentTo"} xref: NCIT:C85006 {source="MONDO:relatedTo", source="DOID:13042", source="EFO:1001103"} xref: NCIT:C98809 {source="MONDO:equivalentTo"} xref: OMIM:265380 {source="Orphanet:210122", source="DOID:13042", source="MONDO:equivalentTo", source="Orphanet:210122/e", source="GARD:0008644"} xref: Orphanet:210122 {source="OMIM:265380", source="MONDO:equivalentTo", source="GARD:0008644"} xref: SCTID:233815004 {source="MONDO:relatedTo", source="DOID:13042"} xref: SCTID:447275002 {source="MONDO:equivalentTo", source="GARD:0008644"} xref: UMLS:C0031190 {source="OMIM:265380", source="DOID:13042", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0017015 {source="Orphanet:210122"} ! primary interstitial lung disease specific to childhood is_a: MONDO:0020295 {source="MONDO:cjm"} ! congenital pulmonary veins anomaly property_value: closeMatch http://identifiers.org/meddra/10054726 property_value: exactMatch DOID:13042 property_value: exactMatch http://identifiers.org/mesh/C536590 property_value: exactMatch http://identifiers.org/snomedct/447275002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031190 property_value: exactMatch https://omim.org/entry/265380 property_value: exactMatch NCIT:C98809 property_value: exactMatch Orphanet:210122 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5537 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8644/alveolar-capillary-dysplasia xsd:anyURI {source="GARD:0008644"} [Term] id: MONDO:0009936 name: familial primary pulmonary hypoplasia def: "Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congential malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life." [Orphanet:2257] subset: ordo_malformation_syndrome {source="Orphanet:2257"} synonym: "lung agenesis" RELATED [OMIM:265430] synonym: "primary pulmonary hypoplasia" RELATED [Orphanet:2257] synonym: "pulmonary hypoplasia, primary" RELATED [OMIM:265430] xref: ICD9:748.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:265430 {source="Orphanet:2257", source="MONDO:equivalentTo", source="Orphanet:2257/e"} xref: Orphanet:2257 {source="MONDO:equivalentTo", source="OMIM:265430"} xref: SCTID:277656005 {source="MONDO:equivalentTo"} xref: UMLS:CN226916 {source="MONDO:equivalentTo"} is_a: MONDO:0015221 {source="Orphanet:2257"} ! non-syndromic respiratory or mediastinal malformation is_a: MONDO:0015930 {source="Orphanet:2257"} ! respiratory malformation property_value: exactMatch http://identifiers.org/snomedct/277656005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226916 property_value: exactMatch https://omim.org/entry/265430 property_value: exactMatch Orphanet:2257 [Term] id: MONDO:0009937 name: pulmonary venoocclusive disease def: "A disorder characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension." [NCIT:C85039] subset: gard_rare {source="GARD:0010153"} subset: ordo_disease {source="Orphanet:31837"} subset: prototype_pattern synonym: "obstructive disease of the pulmonary veins" RELATED [GARD:0010153] synonym: "pulmonary capillary hemangiomatosis" EXACT [https://orcid.org/0000-0003-0113-912X] synonym: "pulmonary veno-occlusive disease" EXACT [DOID:5453] synonym: "PVOD" EXACT ABBREVIATION [OMIM:265450] xref: DOID:5453 {source="MONDO:equivalentTo"} xref: ICD9:416.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10037458 {source="Orphanet:31837/e", source="Orphanet:31837"} xref: MESH:D011668 {source="DOID:5453", source="Orphanet:31837/e", source="MONDO:equivalentTo", source="Orphanet:31837"} xref: NCIT:C85039 {source="DOID:5453", source="MONDO:equivalentTo"} xref: OMIMPS:265450 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:31837 {source="OMIM:265450", source="MONDO:equivalentTo"} xref: SCTID:89420002 {source="DOID:5453", source="MONDO:equivalentTo"} xref: UMLS:C0034091 {source="DOID:5453", source="Orphanet:31837/e", source="OMIM:265450", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:31837"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0003818 {source="https://orcid.org/0000-0001-5208-3432"} ! lung disease is_a: EFO:0004264 {source="NCIT:C85039"} ! vascular disease property_value: closeMatch http://identifiers.org/meddra/10037458 property_value: exactMatch DOID:5453 property_value: exactMatch http://identifiers.org/mesh/D011668 property_value: exactMatch http://identifiers.org/snomedct/89420002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034091 property_value: exactMatch https://omim.org/phenotypicSeries/PS265450 property_value: exactMatch NCIT:C85039 property_value: exactMatch Orphanet:31837 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10153/pulmonary-venoocclusive-disease xsd:anyURI {source="GARD:0010153"} [Term] id: MONDO:0009940 name: pycnodysostosis def: "Pycnodysostosis is a genetic lysosomal disease characterized by short stature, increased density of the bones (osteosclerosis/osteopetrosis), and brittle bones. Other features may include underdevelopment of the tips of the fingers with absent or small nails, an abnormal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead, and dental abnormalities.Pycnodysostosis is an autosomal recessive condition caused by mutations in the gene that codes the enzyme cathepsin K (CTSK) on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Treatment should address the symptoms found in each patient and may include orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery." [https://rarediseases.info.nih.gov/diseases/4611/pycnodysostosis] subset: gard_rare {source="GARD:0004611"} subset: ordo_disease {source="Orphanet:763"} synonym: "PKND" RELATED ABBREVIATION [GARD:0004611] synonym: "Pycd" RELATED [OMIM:265800] synonym: "pycnodysostosis" EXACT [OMIM:265800] synonym: "Pyknodysostosis" EXACT [OMIM:265800, Orphanet:763] xref: DOID:0080038 {source="MONDO:equivalentTo"} xref: MESH:D058631 {source="Orphanet:763", source="MONDO:equivalentTo", source="Orphanet:763/e"} xref: NCIT:C131187 {source="MONDO:equivalentTo"} xref: OMIM:265800 {source="Orphanet:763", source="MONDO:equivalentTo", source="Orphanet:763/e"} xref: Orphanet:763 {source="MONDO:equivalentTo", source="OMIM:265800"} xref: SCTID:89647000 {source="MONDO:equivalentTo"} xref: UMLS:C0238402 {source="Orphanet:763", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:763/e", source="NCIT:C131187", source="OMIM:265800"} is_a: EFO:0005571 {source="DOID:0080038", source="MESH:D058631"} ! osteochondrodysplasia is_a: MONDO:0002561 {source="MESH:D058631", source="Orphanet:763"} ! lysosomal storage disease is_a: MONDO:0017198 {source="Orphanet:763", source="PMID:31633310"} ! osteopetrosis property_value: exactMatch DOID:0080038 property_value: exactMatch http://identifiers.org/mesh/D058631 property_value: exactMatch http://identifiers.org/snomedct/89647000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238402 property_value: exactMatch https://omim.org/entry/265800 property_value: exactMatch NCIT:C131187 property_value: exactMatch Orphanet:763 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4611/pycnodysostosis xsd:anyURI {source="GARD:0004611"} [Term] id: MONDO:0009942 name: pyknoachondrogenesis def: "Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis." [Orphanet:3003] subset: gard_rare {source="GARD:0004610"} subset: ordo_malformation_syndrome {source="Orphanet:3003"} synonym: "association of skeletal defects resembling achondrogenesis with generalised bone sclerosis" RELATED OMO:0003005 [] synonym: "association of skeletal defects resembling achondrogenesis with generalized bone sclerosis" RELATED [GARD:0004610] synonym: "camera syndrome" EXACT [Orphanet:3003] synonym: "pyknoachondrogenesis" EXACT [OMIM:265880] xref: MESH:C536251 {source="Orphanet:3003", source="MONDO:equivalentTo", source="Orphanet:3003/e"} xref: OMIM:265880 {source="Orphanet:3003", source="MONDO:equivalentTo", source="Orphanet:3003/e"} xref: Orphanet:3003 {source="MONDO:equivalentTo", source="OMIM:265880"} xref: SCTID:719258003 {source="MONDO:equivalentTo"} xref: UMLS:C1849523 {source="Orphanet:3003", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:265880", source="Orphanet:3003/e"} is_a: MONDO:0019718 {source="Orphanet:3003"} ! lethal chondrodysplasia property_value: exactMatch http://identifiers.org/mesh/C536251 property_value: exactMatch http://identifiers.org/snomedct/719258003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849523 property_value: exactMatch https://omim.org/entry/265880 property_value: exactMatch Orphanet:3003 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4610/pyknoachondrogenesis xsd:anyURI {source="GARD:0004610"} [Term] id: MONDO:0009943 name: Pyle disease def: "A bone dysplasia characterized by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning." [https://orcid.org/0000-0001-5208-3432, Orphanet:3005] subset: ordo_disease {source="Orphanet:3005"} synonym: "Bakwin-Krida syndrome" EXACT [DOID:0080019, Wikipedia:Metaphyseal_dysplasia] synonym: "chondrodysplasia calcificans metaphysealis" EXACT [OMIM:215050] synonym: "metaphyseal dysplasia" BROAD [MONDO:0000841, OMIM:265900] synonym: "metaphyseal dysplasia Pyle type" RELATED [GARD:0004612] synonym: "metaphyseal dysplasia, Pyle type" EXACT [Orphanet:3005] synonym: "Pyl" RELATED [OMIM:265900] synonym: "Pyle disease" EXACT [OMIM:265900] synonym: "Pyle's disease" EXACT [DOID:0080019, Wikipedia:Metaphyseal_dysplasia] synonym: "Pyle's syndrome" EXACT [Wikipedia:Metaphyseal_dysplasia] synonym: "Pyle-Cohn syndrome" EXACT [DOID:0080019, Wikipedia:Metaphyseal_dysplasia] xref: DOID:0080019 {source="MONDO:equivalentTo"} xref: ICD10CM:Q78.5 {source="Orphanet:3005/inclusion", source="Orphanet:3005/ntbt", source="Orphanet:3005", source="MONDO:equivalentTo"} xref: ICD9:758.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536252 {source="Orphanet:3005", source="MONDO:equivalentTo", source="Orphanet:3005/e"} xref: OMIM:265900 {source="Orphanet:3005", source="MONDO:equivalentTo", source="Orphanet:3005/e"} xref: Orphanet:3005 {source="MONDO:equivalentTo", source="OMIM:265900"} xref: SCTID:27837003 {source="MONDO:equivalentTo"} is_a: EFO:0005571 {source="DOID:0080019"} ! osteochondrodysplasia is_a: MONDO:0800084 {source="PMID:31633310"} ! primary bone dysplasia with increased bone density property_value: exactMatch DOID:0080019 property_value: exactMatch http://identifiers.org/mesh/C536252 property_value: exactMatch http://identifiers.org/snomedct/27837003 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q78.5 property_value: exactMatch https://omim.org/entry/265900 property_value: exactMatch Orphanet:3005 property_value: excluded_subClassOf MONDO:0019703 {source="Orphanet:3005"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0009945 name: pyridoxine-dependent epilepsy def: "A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6)." [Orphanet:3006] subset: gard_rare {source="GARD:0009298"} subset: ordo_disease {source="Orphanet:3006"} synonym: "AASA dehydrogenase deficiency" RELATED [OMIM:266100] synonym: "antiquitin deficiency" EXACT [Orphanet:3006] synonym: "EPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:266100] synonym: "Epd" RELATED [OMIM:266100] synonym: "epilepsy, pyridoxine-dependent" RELATED [MONDO:Lexical, OMIM:266100] synonym: "pyridoxine dependency" RELATED [GARD:0009298] synonym: "pyridoxine dependency with seizures" RELATED [OMIM:266100] synonym: "pyridoxine-dependent epilepsy" EXACT [OMIM:266100] synonym: "vitamin B6-dependent seizures" EXACT [Orphanet:3006] xref: DOID:0080768 {source="MONDO:equivalentTo"} xref: MESH:C536254 {source="Orphanet:3006", source="MONDO:equivalentTo", source="Orphanet:3006/e"} xref: Orphanet:3006 {source="MONDO:equivalentTo", source="OMIM:266100"} xref: SCTID:734434007 {source="MONDO:equivalentTo"} xref: UMLS:C1291560 {source="MONDO:relatedTo", source="Orphanet:3006", source="Orphanet:3006/e"} xref: UMLS:C1849508 {source="Orphanet:3006", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:266100", source="Orphanet:3006/e"} xref: UMLS:CN203406 {source="MONDO:equivalentTo"} is_a: MONDO:0015653 ! monogenic epilepsy is_a: MONDO:0019237 {source="Orphanet:3006"} ! inborn disorder of pyridoxine metabolism is_a: MONDO:0100033 {source="https://orcid.org/0000-0001-8486-0558"} ! metabolic epilepsy property_value: exactMatch DOID:0080768 property_value: exactMatch http://identifiers.org/mesh/C536254 property_value: exactMatch http://identifiers.org/snomedct/734434007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849508 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203406 property_value: exactMatch Orphanet:3006 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/pull/2571/ xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9298/pyridoxine-dependent-epilepsy xsd:anyURI {source="GARD:0009298"} [Term] id: MONDO:0009946 name: hemolytic anemia due to pyrimidine 5' nucleotidase deficiency def: "Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported." [Orphanet:35120] subset: ordo_disease {source="Orphanet:35120"} synonym: "anemia, hemolytic, due to UMPH1 deficiency" EXACT [OMIM:266120, OMIM:genemap2] synonym: "hemolytic Anaemia due to P5N deficiency" RELATED OMO:0003005 [] synonym: "hemolytic Anaemia due to Umph1 deficiency" RELATED OMO:0003005 [] synonym: "hemolytic Anemia due to P5N deficiency" RELATED [OMIM:266120] synonym: "hemolytic Anemia due to Umph1 deficiency" RELATED [OMIM:266120] synonym: "P5N deficiency" EXACT [OMIM:266120, Orphanet:35120] synonym: "pyrimidine 5-prime Nucleotidase deficiency, hemolytic Anaemia due to" RELATED OMO:0003005 [] synonym: "pyrimidine 5-prime Nucleotidase deficiency, hemolytic Anemia due to" RELATED [OMIM:266120] synonym: "UMPH1 deficiency" EXACT [Orphanet:35120] synonym: "Umph1 deficiency" RELATED [OMIM:266120] synonym: "uridine 5'-monophosphate hydrolase deficiency" EXACT [Orphanet:35120] synonym: "uridine 5-prime monophosphate hydrolase deficiency, hemolytic anaemia due to" RELATED OMO:0003005 [] synonym: "uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to" RELATED [OMIM:266120] xref: MESH:C564859 {source="MONDO:equivalentTo"} xref: OMIM:266120 {source="MONDO:equivalentTo", source="Orphanet:35120", source="Orphanet:35120/e"} xref: Orphanet:35120 {source="OMIM:266120", source="MONDO:equivalentTo"} xref: UMLS:C1849507 {source="OMIM:266120", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:35120"} is_a: MONDO:0003689 ! familial hemolytic anemia is_a: MONDO:0019238 {source="Orphanet:35120"} ! inborn disorder of pyrimidine metabolism property_value: exactMatch http://identifiers.org/mesh/C564859 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849507 property_value: exactMatch https://omim.org/entry/266120 property_value: exactMatch Orphanet:35120 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009947 name: glutathione synthetase deficiency with 5-oxoprolinuria subset: ordo_clinical_subtype {source="Orphanet:289846"} synonym: "5-oxoprolinuria" RELATED [OMIM:266130] synonym: "glutathione synthetase deficiency" RELATED [MONDO:Lexical, OMIM:266130] synonym: "GSSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:266130] synonym: "pyroglutamic aciduria" RELATED [OMIM:266130] xref: DOID:0081034 {source="MONDO:equivalentTo"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:266130 {source="MONDO:equivalentTo", source="Orphanet:289846", source="Orphanet:289846/e"} xref: Orphanet:289846 {source="OMIM:266130", source="MONDO:equivalentTo"} xref: SCTID:39112005 {source="MONDO:equivalentTo"} is_a: MONDO:0017909 {source="Orphanet:289846"} ! inherited glutathione synthetase deficiency property_value: exactMatch DOID:0081034 property_value: exactMatch http://identifiers.org/snomedct/39112005 property_value: exactMatch https://omim.org/entry/266130 property_value: exactMatch Orphanet:289846 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0009948 name: pyropoikilocytosis, hereditary def: "An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency." [NCIT:C98943] subset: gard_rare {source="GARD:0004619"} synonym: "hereditary pyropoikilocytosis" RELATED [GARD:0004619] synonym: "HPP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:266140] synonym: "pyropoikilocytosis" EXACT [OMIM:266140, OMIM:genemap2] synonym: "pyropoikilocytosis hereditary" RELATED [GARD:0004619] synonym: "pyropoikilocytosis, hereditary" EXACT [MONDO:Lexical, OMIM:266140] xref: ICD9:790.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563004 {source="MONDO:equivalentTo"} xref: NCIT:C98943 {source="MONDO:equivalentTo"} xref: OMIM:266140 {source="MONDO:equivalentTo"} xref: Orphanet:98867 {source="OMIM:266140", source="MONDO:equivalentObsolete"} xref: SCTID:9434008 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="MESH:C563004/inferred"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C563004 property_value: exactMatch http://identifiers.org/snomedct/9434008 property_value: exactMatch https://omim.org/entry/266140 property_value: exactMatch NCIT:C98943 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4619/pyropoikilocytosis-hereditary xsd:anyURI {source="GARD:0004619"} [Term] id: MONDO:0009950 name: pyruvate kinase deficiency of red cells def: "Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia." [Orphanet:766] subset: ordo_disease {source="Orphanet:766"} synonym: "hemolytic Anaemia due to pyruvate Kinase deficiency" EXACT OMO:0003005 [] synonym: "hemolytic anaemia due to red cell pyruvate kinase deficiency" EXACT OMO:0003005 [] synonym: "hemolytic Anemia due to pyruvate Kinase deficiency" EXACT [NCIT:C99037] synonym: "hemolytic anemia due to red cell pyruvate kinase deficiency" EXACT [DOID:0111077] synonym: "PK deficiency" EXACT [DOID:0111077] synonym: "Pk deficiency" RELATED [OMIM:266200] synonym: "pyruvate kinase deficiency" RELATED [GARD:0007514] synonym: "pyruvate kinase deficiency of erythrocyte" EXACT [DOID:0111077, OMIM:266200] synonym: "pyruvate kinase deficiency of erythrocytes" EXACT [Orphanet:766] synonym: "pyruvate kinase deficiency of red cells" EXACT [OMIM:266200] xref: DOID:0111077 {source="MONDO:equivalentTo"} xref: MESH:C564858 {source="MONDO:equivalentTo"} xref: NCIT:C99037 {source="MONDO:equivalentTo"} xref: OMIM:266200 {source="Orphanet:766", source="MONDO:equivalentTo", source="Orphanet:766/e", source="DOID:0111077"} xref: Orphanet:766 {source="MONDO:equivalentTo", source="OMIM:266200", source="DOID:0111077"} xref: SCTID:124331002 {source="MONDO:equivalentTo"} xref: UMLS:C0340968 {source="Orphanet:766", source="MONDO:equivalentTo", source="OMIM:266200"} is_a: EFO:1000641 {source="DOID:0111077", source="MESH:C564858"} ! congenital nonspherocytic hemolytic anemia is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis is_a: MONDO:0020585 ! anemia due to erythrocyte enzyme disorder property_value: exactMatch DOID:0111077 property_value: exactMatch http://identifiers.org/mesh/C564858 property_value: exactMatch http://identifiers.org/snomedct/124331002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0340968 property_value: exactMatch https://omim.org/entry/266200 property_value: exactMatch NCIT:C99037 property_value: exactMatch Orphanet:766 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0009952 name: radioulnar synostosis-developmental delay-hypotonia syndrome def: "Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears)." [Orphanet:3270] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:3270"} synonym: "der Kaloustian mcintosh silver syndrome" RELATED [] synonym: "Der Kaloustian-McIntosh-Silver syndrome" EXACT [Orphanet:3270] synonym: "radioulnar synostosis with developmental delay and hypotonia syndrome" EXACT [] synonym: "radioulnar synostosis, unilateral, with developintellectual disability and hypotonia" RELATED [OMIM:266255] synonym: "radioulnar synostosis, unilateral, with developmental retardation and hypotonia" RELATED DEPRECATED [OMIM:266255] synonym: "unilateral radio-ulnar synostosis, generalised hypotonia, developintellectual disability, and a characteristic facial appearance" RELATED OMO:0003005 [] synonym: "unilateral radio-ulnar synostosis, generalised hypotonia, developmental retardation, and a characteristic facial appearance" RELATED OMO:0003005 [] synonym: "unilateral radio-ulnar synostosis, generalized hypotonia, developintellectual disability, and a characteristic facial appearance" RELATED [GARD:0001810] synonym: "unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance" RELATED DEPRECATED [GARD:0001810] xref: MESH:C538217 {source="MONDO:equivalentTo"} xref: MESH:C564856 {source="MONDO:equivalentTo"} xref: OMIM:266255 {source="Orphanet:3270/e", source="GARD:0001810", source="MONDO:equivalentTo", source="Orphanet:3270"} xref: Orphanet:3270 {source="MONDO:equivalentTo", source="OMIM:266255"} xref: SCTID:721883006 {source="MONDO:equivalentTo"} is_a: EFO:0003852 {source="MESH:C538217", source="MESH:C564856"} ! developmental disability is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:3270"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0017985 ! congenital radioulnar synostosis is_a: MONDO:0019054 ! congenital limb malformation property_value: exactMatch http://identifiers.org/mesh/C538217 property_value: exactMatch http://identifiers.org/mesh/C564856 property_value: exactMatch http://identifiers.org/snomedct/721883006 property_value: exactMatch https://omim.org/entry/266255 property_value: exactMatch Orphanet:3270 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3270"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1810/der-kaloustian-mcintosh-silver-syndrome xsd:anyURI {source="GARD:0001810"} [Term] id: MONDO:0009953 name: leukocyte adhesion deficiency type II def: "Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." [Orphanet:99843] subset: ordo_clinical_subtype {source="Orphanet:99843"} synonym: "CDG 2C" RELATED [GARD:0004634] synonym: "CDG IIc" EXACT [DOID:0070255] synonym: "CDG syndrome type IIc" EXACT [Orphanet:99843] synonym: "CDG-IIc" EXACT [Orphanet:99843] synonym: "CDG2C" EXACT ABBREVIATION [DOID:0070255, MONDO:Lexical, OMIM:266265, Orphanet:99843] synonym: "CDGIIc" EXACT [DOID:0070255] synonym: "congenital disorder of glycosylation type IIC" RELATED [GARD:0004634] synonym: "congenital disorder of glycosylation, type IIc" RELATED [MONDO:Lexical, OMIM:266265] synonym: "lad-II" EXACT [Orphanet:99843] synonym: "lad-type II" EXACT [NCIT:C4690] synonym: "LAD2" EXACT ABBREVIATION [DOID:0070255, GARD:0004634] synonym: "leukocyte adhesion deficiency type 2" EXACT [NCIT:C4690] synonym: "leukocyte adhesion deficiency type II" EXACT [] synonym: "leukocyte adhesion deficiency, type 2" RELATED [OMIM:266265] synonym: "leukocyte adhesion deficiency, type II" EXACT [DOID:0070255] synonym: "Rambam-Hasharon syndrome" EXACT [DOID:0070255, OMIM:266265, Orphanet:99843] synonym: "RHS" EXACT ABBREVIATION [DOID:0070255] synonym: "sialyl-Lewis X defect" EXACT [NCIT:C4690] synonym: "SLC35C1-CDG" EXACT [Orphanet:99843] synonym: "SLC35C1-CDG (CDG-IIc)" RELATED [GARD:0004634] xref: DOID:0070255 {source="MONDO:equivalentTo"} xref: DOID:0080492 {source="MONDO:equivalentTo"} xref: MESH:C535755 {source="MONDO:equivalentTo"} xref: NCIT:C4690 {source="MONDO:equivalentTo"} xref: OMIM:266265 {source="Orphanet:99843", source="DOID:0070255", source="MONDO:equivalentTo", source="Orphanet:99843/e"} xref: Orphanet:99843 {source="DOID:0070255", source="MONDO:equivalentTo", source="OMIM:266265"} xref: SCTID:234583001 {source="MONDO:equivalentTo"} xref: UMLS:C0398739 {source="NCIT:C4690", source="Orphanet:99843", source="DOID:0070255", source="MONDO:equivalentTo", source="OMIM:266265"} is_a: EFO:0005546 {source="DC-OMIM:266265", source="DOID:0070255", source="OMIM:266265"} ! congenital disorder of glycosylation type II is_a: MONDO:0017570 {source="NCIT:C4690", source="Orphanet:99843"} ! leukocyte adhesion deficiency is_a: MONDO:0017749 {source="Orphanet:99843"} ! disorder of multiple glycosylation property_value: exactMatch DOID:0070255 property_value: exactMatch DOID:0080492 property_value: exactMatch http://identifiers.org/mesh/C535755 property_value: exactMatch http://identifiers.org/snomedct/234583001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398739 property_value: exactMatch https://omim.org/entry/266265 property_value: exactMatch NCIT:C4690 property_value: exactMatch Orphanet:99843 [Term] id: MONDO:0009954 name: Ramon syndrome subset: gard_rare {source="GARD:0007523"} subset: ordo_malformation_syndrome {source="Orphanet:3019"} synonym: "cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted Growth" RELATED [OMIM:266270] synonym: "cherubism-gingival fibromatosis-intellectual disability syndrome" EXACT [Orphanet:3019] synonym: "gingival fibromatosis combined with cherubism" RELATED [GARD:0007523] synonym: "Ramon syndrome" EXACT [OMIM:266270] xref: MESH:C535285 {source="MONDO:equivalentTo", source="Orphanet:3019", source="Orphanet:3019/e"} xref: OMIM:266270 {source="MONDO:equivalentTo", source="Orphanet:3019", source="Orphanet:3019/e"} xref: Orphanet:3019 {source="OMIM:266270", source="MONDO:equivalentTo"} xref: UMLS:C0796133 {source="OMIM:266270", source="MONDO:equivalentTo", source="Orphanet:3019", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3019/e"} is_a: MONDO:0800089 {source="PMID:31633310"} ! primary bone dysplasia with disorganized development of skeletal components property_value: exactMatch http://identifiers.org/mesh/C535285 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796133 property_value: exactMatch https://omim.org/entry/266270 property_value: exactMatch Orphanet:3019 property_value: excluded_subClassOf MONDO:0015336 {source="Orphanet:3019"} property_value: excluded_subClassOf MONDO:0019708 {source="Orphanet:3019"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7523/ramon-syndrome xsd:anyURI {source="GARD:0007523"} [Term] id: MONDO:0009955 name: rapadilino syndrome def: "RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence." [Orphanet:3021] subset: gard_rare {source="GARD:0004637"} subset: ordo_malformation_syndrome {source="Orphanet:3021"} synonym: "absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate" RELATED [GARD:0004637] synonym: "radial and patellar aplasia" RELATED [GARD:0004637] synonym: "radial and patellar hypoplasia" RELATED [GARD:0004637] synonym: "rapadilino syndrome" EXACT [OMIM:266280] xref: DOID:0050774 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535288 {source="Orphanet:3021/e", source="MONDO:equivalentTo", source="Orphanet:3021"} xref: OMIM:266280 {source="DOID:0050774", source="Orphanet:3021/e", source="MONDO:equivalentTo", source="Orphanet:3021"} xref: Orphanet:3021 {source="MONDO:equivalentTo", source="OMIM:266280"} xref: SCTID:702413000 {source="MONDO:equivalentTo"} xref: UMLS:C1849453 {source="Orphanet:3021/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:266280", source="Orphanet:3021"} is_a: EFO:1000017 {source="DOID:0050774", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015161 {source="Orphanet:3021"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect property_value: exactMatch DOID:0050774 property_value: exactMatch http://identifiers.org/mesh/C535288 property_value: exactMatch http://identifiers.org/snomedct/702413000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849453 property_value: exactMatch https://omim.org/entry/266280 property_value: exactMatch Orphanet:3021 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4637/rapadilino-syndrome xsd:anyURI {source="GARD:0004637"} [Term] id: MONDO:0009958 name: adult Refsum disease def: "A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues." [Orphanet:773] comment: Curator note: do not confuse with Infantial Refsum, see https://omim.org/entry/266500 subset: gard_rare {source="GARD:0005691"} subset: ordo_disease {source="Orphanet:773"} synonym: "adult Refsum disease" EXACT [MESH:D012035, NCIT:C85043, Orphanet:773] synonym: "adult Refsum disease due to PHYH" EXACT [https://clinicalgenome.org/affiliation/40049/] synonym: "classic Refsum disease" EXACT [MESH:D012035, NCIT:C85043, Orphanet:773] synonym: "disorder of cornification 11 (phytanic acid type)" RELATED [GARD:0005691] synonym: "DOC 11 (phytanic acid type)" RELATED [GARD:0005691] synonym: "hereditary motor and sensory neuropathy 4" EXACT [NCIT:C85043, OMIM:266500] synonym: "hereditary motor and sensory neuropathy type 4" EXACT [Orphanet:773] synonym: "hereditary sensory and motor neuropathy type 4" EXACT [GARD:0005691, NCIT:C85043] synonym: "heredopathia atactica polyneuritiformis" EXACT [DOID:10582, GARD:0005691, ICD9CM:356.3, MESH:D012035, NCIT:C85043, OMIM:266500, Orphanet:773, SCTID:25362006] synonym: "HMSN 4" EXACT [GARD:0005691, MESH:D012035, NCIT:C85043, OMIM:266500, Orphanet:773] synonym: "HMSN type IV" EXACT [DOID:10582, MESH:D012035, NCIT:C85043] synonym: "HSMN IV" EXACT [DOID:10582, MESH:D012035, NCIT:C85043, OMIM:266500, Orphanet:773, SCTID:25362006] synonym: "hypertrophic neuropathy of Refsum" EXACT [GARD:0005691, NCIT:C85043] synonym: "phytanic acid oxidase deficiency" EXACT [GARD:0005691, MESH:D012035, NCIT:C85043, OMIM:266500] synonym: "phytanic-CoA hydroxylase deficiency" EXACT [Orphanet:773] synonym: "RDPA" RELATED ABBREVIATION [GARD:0004371] synonym: "Refsum disease" EXACT [https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/24, NCIT:C85043, Orphanet:773, SCTID:25362006] synonym: "Refsum disease with increased pipecolic acidemia" RELATED [MESH:C535517, MONDO:0043181, OMIM:266500] synonym: "Refsum disease, adult, 1" EXACT [OMIM:266500] synonym: "Refsum disease, classic" EXACT [MESH:D012035, OMIM:266500] synonym: "Refsum's disease" EXACT [DOID:10582, ICD9CM:356.3, MESH:D012035, NCIT:C85043, SCTID:25362006] xref: DOID:10582 {source="MONDO:equivalentTo"} xref: ICD10CM:G60.1 {source="Orphanet:773/specific", source="Orphanet:773/e", source="MONDO:equivalentTo", source="DOID:10582", source="Orphanet:773"} xref: ICD9:272.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9CM:356.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10582"} xref: MedDRA:10038275 {source="Orphanet:773/e", source="NCIT:C85043", source="Orphanet:773"} xref: MESH:C535517 {source="MONDO:relatedTo"} xref: MESH:D012035 {source="Orphanet:773/e", source="MONDO:equivalentTo", source="DOID:10582", source="Orphanet:773"} xref: OMIM:266500 {source="Orphanet:773/e", source="MONDO:equivalentTo", source="DOID:10582", source="Orphanet:773"} xref: OMIM:600964 {source="MONDO:equivalentObsolete", source="GARD:0004371"} xref: Orphanet:773 {source="MONDO:equivalentTo", source="OMIM:266500"} xref: SCTID:25362006 {source="MONDO:equivalentTo", source="DOID:10582"} xref: UMLS:C1833022 {source="MONDO:relatedTo", source="GARD:0004371"} is_a: MONDO:0100258 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! phytanoyl-CoA hydroxylase deficiency property_value: closeMatch http://identifiers.org/meddra/10038275 property_value: exactMatch DOID:10582 property_value: exactMatch http://identifiers.org/mesh/D012035 property_value: exactMatch http://identifiers.org/snomedct/25362006 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G60.1 property_value: exactMatch https://omim.org/entry/266500 property_value: exactMatch Orphanet:773 property_value: excluded_subClassOf MONDO:0017265 {source="https://github.com/monarch-initiative/mondo/issues/3306", source="https://orcid.org/0000-0002-2796-282X"} property_value: excluded_subClassOf MONDO:0017272 {source="Orphanet:773"} property_value: excluded_subClassOf MONDO:0017753 {source="Orphanet:773"} property_value: excluded_subClassOf MONDO:0019046 {source="Orphanet:773", source="https://rarediseases.org/rare-diseases/leukodystrophy/"} property_value: excluded_subClassOf MONDO:0020044 {source="Orphanet:773"} property_value: excluded_subClassOf MONDO:0020127 {source="MONDO:0016133-obsoleted"} property_value: excluded_subClassOf MONDO:0020228 {source="Orphanet:773"} property_value: excluded_subClassOf MONDO:0020281 {source="Orphanet:773"} property_value: relatedMatch http://identifiers.org/mesh/C535517 property_value: relatedMatch http://linkedlifedata.com/resource/umls/id/C1833022 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5691/refsum-disease xsd:anyURI {source="GARD:0005691"} [Term] id: MONDO:0009959 name: peroxisome biogenesis disorder type 3B def: "A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation." [NCIT:P378] synonym: "infantile phytanic acid storage disease" EXACT [DOID:0050444] synonym: "PBD3B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:266510] synonym: "peroxisome biogenesis disorder 3B" EXACT [MONDO:Lexical, OMIM:266510] synonym: "peroxisome biogenesis disorder type 3B" EXACT [MONDORULE:4, OMIM:266510] xref: DOID:0081241 {source="MONDO:equivalentTo"} xref: OMIM:266510 {source="DOID:0050444", source="MONDO:equivalentTo"} is_a: MONDO:0100266 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX12 defect relationship: has_characteristic MONDO:0100357 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! non-classic presentation property_value: exactMatch DOID:0081241 property_value: exactMatch https://omim.org/entry/266510 property_value: excluded_subClassOf MONDO:0019234 {source="MONDO:Redundant", source="OMIM:266510"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0009963 name: Ulbright-Hodes syndrome def: "Ulbright-Hodes syndrome is characterized by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive." [Orphanet:3404] subset: ordo_malformation_syndrome {source="Orphanet:3404"} synonym: "renal dysplasia limb defects syndrome" RELATED [GARD:0005394] synonym: "renal dysplasia, mesomelia, and radiohumeral fusion" RELATED [GARD:0005394] synonym: "renal dysplasia-limb defects syndrome" EXACT [OMIM:266910, Orphanet:3404] synonym: "renal dysplasia-mesomelia-radiohumeral fusion syndrome" EXACT [Orphanet:3404] synonym: "RL syndrome" RELATED [OMIM:266910] synonym: "Ulbright Hodes syndrome" RELATED [GARD:0005394] xref: MESH:C537754 {source="MONDO:equivalentTo"} xref: OMIM:266910 {source="MONDO:equivalentTo", source="Orphanet:3404", source="Orphanet:3404/e"} xref: Orphanet:3404 {source="MONDO:equivalentTo", source="OMIM:266910"} xref: SCTID:719840003 {source="MONDO:equivalentTo"} xref: UMLS:C1849438 {source="MONDO:equivalentTo", source="Orphanet:3404", source="MONDO:ncbi_mim2gene_medline", source="OMIM:266910"} is_a: MONDO:0015159 {source="Orphanet:3404"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C537754 property_value: exactMatch http://identifiers.org/snomedct/719840003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849438 property_value: exactMatch https://omim.org/entry/266910 property_value: exactMatch Orphanet:3404 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3404"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0009964 name: short-rib thoracic dysplasia 9 with or without polydactyly def: "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13." [DOID:0110097, PMID:22503633] subset: ordo_disease {source="Orphanet:140969"} synonym: "Conorenal syndrome" EXACT [OMIM:266920, Orphanet:140969] synonym: "Mainzer Saldino syndrome" EXACT [GARD:0008600] synonym: "Mainzer-Saldino syndrome" EXACT [OMIM:266920] synonym: "renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia" EXACT [DOID:0110097] synonym: "renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia" RELATED [OMIM:266920] synonym: "renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome" EXACT [Orphanet:140969] synonym: "Saldino-Mainzer syndrome" EXACT [MONDO:0015373] synonym: "short-rib thoracic dysplasia 9 with or without polydactyly" EXACT [MONDO:Lexical, OMIM:266920] synonym: "SRTD9" EXACT ABBREVIATION [DOID:0110097, MONDO:Lexical, OMIM:266920] xref: DOID:0110097 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:266920 {source="Orphanet:140969", source="Orphanet:140969/btnt", source="MONDO:equivalentTo", source="DOID:0110097"} xref: Orphanet:140969 {source="MONDO:equivalentTo", source="OMIM:266920"} xref: SCTID:254092004 {source="MONDO:equivalentTo"} is_a: MONDO:0018770 {source="DOID:0110097", source="MONDO:Redundant", source="OMIM:266920"} ! Jeune syndrome is_a: MONDO:0019695 {source="Orphanet:140969"} ! acromelic dysplasia is_a: MONDO:0100509 {source="https://clinicalgenome.org/affiliation/40072/"} ! IFT140-related recessive ciliopathy property_value: exactMatch DOID:0110097 property_value: exactMatch http://identifiers.org/snomedct/254092004 property_value: exactMatch https://omim.org/entry/266920 property_value: exactMatch Orphanet:140969 property_value: excluded_subClassOf MONDO:0019741 {source="Orphanet:140969"} property_value: excluded_subClassOf MONDO:0020240 {source="Orphanet:140969"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0009965 name: Perlman syndrome def: "Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism." [Orphanet:2849] subset: gard_rare {source="GARD:0003936"} subset: ordo_malformation_syndrome {source="Orphanet:2849"} synonym: "nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor" EXACT [DOID:0060476] synonym: "nephroblastomatosis - foetal ascites - macrosomia - Wilms tumour" EXACT OMO:0003005 [] synonym: "nephroblastomatosis fetal ascites macrosomia and Wilms tumor" RELATED [GARD:0003936] synonym: "nephroblastomatosis foetal ascites macrosomia and Wilms tumour" RELATED OMO:0003005 [] synonym: "nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor" EXACT [DOID:0060476] synonym: "nephroblastomatosis, fetal ascites, macrosomia, and Wilms tumor" RELATED [OMIM:267000] synonym: "nephroblastomatosis, foetal ascites, macrosomia and Wilms tumour" EXACT OMO:0003005 [] synonym: "nephroblastomatosis, foetal ascites, macrosomia, and Wilms tumour" RELATED OMO:0003005 [] synonym: "nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome" EXACT [Orphanet:2849] synonym: "nephroblastomatosis-fetal ascites-macrosomia-Wilms tumour syndrome" EXACT OMO:0003005 [] synonym: "Perlman syndrome" EXACT [MONDO:Lexical, OMIM:267000] synonym: "PRLMNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:267000] synonym: "renal hamartomas, nephroblastomatosis and fetal gigantism" EXACT [DOID:0060476] synonym: "renal hamartomas, nephroblastomatosis and foetal gigantism" EXACT OMO:0003005 [] synonym: "renal hamartomas, nephroblastomatosis, and fetal gigantism" RELATED [OMIM:267000] synonym: "renal hamartomas, nephroblastomatosis, and foetal gigantism" RELATED OMO:0003005 [] xref: DOID:0060476 {source="MONDO:equivalentTo"} xref: MESH:C536399 {source="DOID:0060476", source="MONDO:equivalentTo"} xref: NCIT:C103144 {source="MONDO:equivalentTo"} xref: OMIM:267000 {source="Orphanet:2849/e", source="DOID:0060476", source="MONDO:equivalentTo", source="Orphanet:2849"} xref: Orphanet:2849 {source="DOID:0060476", source="OMIM:267000", source="MONDO:equivalentTo"} xref: SCTID:722231005 {source="MONDO:equivalentTo"} xref: UMLS:C0796113 {source="NCIT:C103144", source="OMIM:267000", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2849"} is_a: MONDO:0017891 {source="Orphanet:2849"} ! inherited renal cancer-predisposing syndrome is_a: MONDO:0019716 {source="Orphanet:2849"} ! overgrowth syndrome property_value: exactMatch DOID:0060476 property_value: exactMatch http://identifiers.org/mesh/C536399 property_value: exactMatch http://identifiers.org/snomedct/722231005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796113 property_value: exactMatch https://omim.org/entry/267000 property_value: exactMatch NCIT:C103144 property_value: exactMatch Orphanet:2849 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3936/perlman-syndrome xsd:anyURI {source="GARD:0003936"} [Term] id: MONDO:0009966 name: NPHP3-related Meckel-like syndrome subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:3032"} synonym: "Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia" RELATED [GARD:0004665] synonym: "Goldston syndrome" EXACT [Orphanet:3032] synonym: "Meckel syndrome 7" RELATED [GARD:0004665] synonym: "Meckel syndrome type 7" EXACT [Orphanet:3032] synonym: "Meckel syndrome, type 7" RELATED [MONDO:Lexical, OMIM:267010] synonym: "Meckel-Gruber syndrome, type 7" EXACT [DOID:0070121] synonym: "Meckel-like syndrome type 1" EXACT [Orphanet:3032] synonym: "MKS7" EXACT ABBREVIATION [DOID:0070121, MONDO:Lexical, OMIM:267010] synonym: "NPHP3-related Meckel-like syndrome" EXACT [GARD:0004665] synonym: "renal-hepatic-pancreatic dysplasia with Dandy-Walker cyst" RELATED [OMIM:267010] synonym: "renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome" EXACT [GARD:0004665, Orphanet:3032] xref: DOID:0070121 {source="MONDO:equivalentTo"} xref: MESH:C537756 {source="MONDO:equivalentTo"} xref: OMIM:267010 {source="DOID:0070121", source="GARD:0004665", source="Orphanet:3032/e", source="MONDO:equivalentTo", source="Orphanet:3032"} xref: Orphanet:3032 {source="OMIM:267010", source="DOID:0070121", source="GARD:0004665", source="MONDO:equivalentTo"} xref: PMID:18371931 {source="DOID:0070121"} xref: UMLS:C2673885 {source="OMIM:267010", source="DOID:0070121", source="GARD:0004665", source="Orphanet:3032/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3032"} is_a: MONDO:0018921 {source="DC-OMIM:267010", source="DOID:0070121", source="OMIM:267010"} ! Meckel syndrome is_a: MONDO:0020022 ! central nervous system malformation relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation property_value: exactMatch DOID:0070121 property_value: exactMatch http://identifiers.org/mesh/C537756 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673885 property_value: exactMatch https://omim.org/entry/267010 property_value: exactMatch Orphanet:3032 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4665/dandy-walker-cyst-with-renal-hepatic-pancreatic-dysplasia xsd:anyURI {source="GARD:0004665"} [Term] id: MONDO:0009968 name: renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss synonym: "AR dRTA with hearing loss" RELATED [GARD:0004666] synonym: "AR dRTA wth deafness" RELATED [GARD:0004666] synonym: "autosomal recessive distal renal tubular acidosis with deafness" RELATED [GARD:0004666] synonym: "autosomal recessive distal renal tubular acidosis with hearing loss" RELATED [GARD:0004666] synonym: "distal renal tubular acidosis 2 with progressive sensorineural hearing loss" EXACT [OMIM:267300, OMIM:genemap2] synonym: "distal renal tubular acidosis co-occurrent with sensorineural deafness" EXACT [] synonym: "renal tubular acidosis progressive nerve deafness" RELATED [GARD:0004666] synonym: "renal tubular acidosis type 1b" RELATED [GARD:0004666] synonym: "renal tubular acidosis with deafness" RELATED [GARD:0004666] synonym: "renal tubular acidosis with progressive nerve deafness" RELATED [OMIM:267300] synonym: "renal tubular acidosis, autosomal recessive, with progressive nerve deafness" RELATED [OMIM:267300] synonym: "renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss" EXACT [] synonym: "renal tubular acidosis, distal, with progressive nerve deafness" EXACT [OMIM:267300] synonym: "RTA with progressive nerve deafness" RELATED [OMIM:267300] xref: ICD9:389.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:588.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562897 {source="MONDO:equivalentTo"} xref: OMIM:267300 {source="MONDO:equivalentTo"} xref: Orphanet:93611 {source="MONDO:equivalentObsolete"} xref: SCTID:236532003 {source="MONDO:equivalentTo"} xref: SCTID:722468005 {source="MONDO:equivalentTo"} xref: UMLS:C0403554 {source="MONDO:equivalentTo", source="OMIM:267300", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4302514 {source="MONDO:equivalentTo"} is_a: MONDO:0018440 {source="Orphanet:402041/btnt"} ! autosomal recessive distal renal tubular acidosis property_value: exactMatch http://identifiers.org/mesh/C562897 property_value: exactMatch http://identifiers.org/snomedct/236532003 property_value: exactMatch http://identifiers.org/snomedct/722468005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0403554 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4302514 property_value: exactMatch https://omim.org/entry/267300 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0009969 name: renal-genital-middle ear anomalies subset: gard_rare {source="GARD:0004664"} subset: ordo_malformation_syndrome {source="Orphanet:1092"} synonym: "renal genital middle ear anomalies" RELATED [GARD:0004664] synonym: "renal, genital, and middle EAR anomalies" RELATED [OMIM:267400] xref: MESH:C564849 {source="MONDO:equivalentTo"} xref: OMIM:267400 {source="Orphanet:1092/e", source="MONDO:equivalentTo", source="Orphanet:1092"} xref: Orphanet:1092 {source="MONDO:equivalentObsolete", source="OMIM:267400"} xref: UMLS:C1849432 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:267400", source="Orphanet:1092"} is_a: MONDO:0015161 {source="Orphanet:1092"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability property_value: exactMatch http://identifiers.org/mesh/C564849 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849432 property_value: exactMatch https://omim.org/entry/267400 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4664/renal-genital-middle-ear-anomalies xsd:anyURI {source="GARD:0004664"} [Term] id: MONDO:0009970 name: renal tubular dysgenesis of genetic origin def: "An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] subset: ordo_etiological_subtype {source="Orphanet:97369"} synonym: "genetic renal tubular dysgenesis" EXACT [MONDO:patterns/genetic] synonym: "primitive renal tubule syndrome" RELATED [OMIM:267430] synonym: "renal tubular dysgenesis" RELATED [MONDO:Lexical, OMIM:267430] synonym: "renal tubular dysgenesis of genetic origin" EXACT [] synonym: "renal tubular dysgenesis with choanal atresia and athelia" RELATED [OMIM:267430] synonym: "RTD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:267430] xref: OMIM:267430 {source="Orphanet:97369", source="MONDO:equivalentTo", source="Orphanet:97369/e"} xref: Orphanet:97369 {source="OMIM:267430", source="MONDO:equivalentTo"} is_a: MONDO:0017609 {source="MONDO:Redundant", source="Orphanet:97369"} ! renal tubular dysgenesis is_a: MONDO:0100191 ! inherited kidney disorder intersection_of: MONDO:0017609 ! renal tubular dysgenesis intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch https://omim.org/entry/267430 property_value: exactMatch Orphanet:97369 [Term] id: MONDO:0009971 name: respiratory distress syndrome in premature infants def: "Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts." [Orphanet:70587] subset: gard_rare subset: ordo_disease {source="Orphanet:70587"} synonym: "hyaline Membrane disease" RELATED [OMIM:267450] synonym: "hyaline Membrane disease, formerly" RELATED [OMIM:267450] synonym: "infantile respiratory distress syndrome" RELATED [GARD:0000112] synonym: "IRDS" RELATED ABBREVIATION [GARD:0000112] synonym: "NRDS" RELATED ABBREVIATION [GARD:0000112] synonym: "RDS" BROAD ABBREVIATION [NCIT:C27560] synonym: "RDS - infants" RELATED [GARD:0000112] synonym: "RDS of prematurity" EXACT [OMIM:267450] synonym: "respiratory distress syndrome" BROAD [NCIT:C27560] synonym: "respiratory distress syndrome in premature infants" EXACT [OMIM:267450] synonym: "respiratory distress syndrome, infant" RELATED [GARD:0000112] xref: EFO:1000644 {source="MONDO:equivalentTo"} xref: MESH:C566881 {source="MONDO:equivalentTo"} xref: OMIM:267450 {source="MONDO:equivalentTo", source="Orphanet:70587", source="DOID:12716", source="EFO:1000644", source="Orphanet:70587/e"} xref: Orphanet:70587 {source="OMIM:267450", source="MONDO:equivalentTo"} xref: UMLS:C1968593 {source="OMIM:267450", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:1000644 {source="https://github.com/monarch-initiative/mondo/issues/1360"} ! newborn respiratory distress syndrome property_value: exactMatch http://identifiers.org/mesh/C566881 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1968593 property_value: exactMatch https://omim.org/entry/267450 property_value: exactMatch Orphanet:70587 property_value: excluded_subClassOf MONDO:0001208 {source="DOID:12716"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5005 xsd:anyURI [Term] id: MONDO:0009973 name: reticular dysgenesis def: "Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated." [Orphanet:33355] subset: gard_rare {source="GARD:0008625"} subset: ordo_disease {source="Orphanet:33355"} synonym: "AK2 deficiency" EXACT [Orphanet:33355] synonym: "aleukocytosis" RELATED [DOID:0060020, OMIM:267500] synonym: "congenital Aleukia" RELATED [OMIM:267500] synonym: "congenital aleukocytosis" EXACT [Orphanet:33355] synonym: "De Vaal disease" EXACT [DOID:0060020, OMIM:267500, Orphanet:33355] synonym: "DeVaal disease" RELATED [GARD:0008625] synonym: "generalised haematopoietic hypoplasia" EXACT OMO:0003005 [] synonym: "generalized hematopoietic hypoplasia" EXACT [Orphanet:33355] synonym: "haematopoietic hypoplasia, generalised" RELATED OMO:0003005 [] synonym: "hematopoietic hypoplasia, generalized" RELATED [OMIM:267500] synonym: "RD" RELATED ABBREVIATION [GARD:0008625] synonym: "reticular Dysgenesia" RELATED [OMIM:267500] synonym: "reticular dysgenesis" EXACT [OMIM:267500] synonym: "SCID with leukopenia" EXACT [Orphanet:33355] synonym: "severe combined immunodeficiency with leukopenia" EXACT [OMIM:267500, Orphanet:33355] xref: DOID:0060020 {source="MONDO:equivalentTo"} xref: MESH:C538361 {source="Orphanet:33355/e", source="MONDO:equivalentTo", source="DOID:0060020", source="Orphanet:33355"} xref: NCIT:C27070 {source="MONDO:equivalentTo", source="DOID:0060020"} xref: OMIM:267500 {source="Orphanet:33355/e", source="MONDO:equivalentTo", source="DOID:0060020", source="Orphanet:33355"} xref: Orphanet:33355 {source="MONDO:equivalentTo", source="OMIM:267500"} xref: SCTID:111584000 {source="MONDO:equivalentTo", source="DOID:0060020"} xref: UMLS:C0272167 {source="Orphanet:33355/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:267500", source="NCIT:C27070", source="DOID:0060020", source="Orphanet:33355"} is_a: MONDO:0017855 {source="Orphanet:33355", source="PMID:31953710"} ! T-B- severe combined immunodeficiency is_a: MONDO:0031520 {source="OMIM:267500"} ! familial severe combined immunodeficiency property_value: exactMatch DOID:0060020 property_value: exactMatch http://identifiers.org/mesh/C538361 property_value: exactMatch http://identifiers.org/snomedct/111584000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272167 property_value: exactMatch https://omim.org/entry/267500 property_value: exactMatch NCIT:C27070 property_value: exactMatch Orphanet:33355 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8625/reticular-dysgenesis xsd:anyURI {source="GARD:0008625"} [Term] id: MONDO:0009974 name: familial hemophagocytic lymphohistiocytosis type 1 def: "Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth." [Orphanet:540] comment: Editor note: type 1 split out subset: ordo_disease {source="Orphanet:540"} subset: prototype_pattern synonym: "Erythrophagocytic lymphohistiocytosis, familial" RELATED [OMIM:267700] synonym: "familial hemophagocytic lymphohistiocytosis" BROAD [NCIT:C61276] synonym: "familial hemophagocytic lymphohistiocytosis 1" RELATED [DOID:0110921] synonym: "familial hemophagocytic lymphohistiocytosis type 1" EXACT [DOID:0110921, MONDORULE:1] synonym: "familial HLH" EXACT [Orphanet:540] synonym: "FHL1" EXACT ABBREVIATION [DOID:0110921, MONDO:Lexical, OMIM:267700] synonym: "hemophagocytic lymphohistiocytosis, familial" RELATED [OMIM:267700] synonym: "hemophagocytic lymphohistiocytosis, familial, 1" RELATED [MONDO:Lexical, OMIM:267700] synonym: "hemophagocytic reticulosis, familial" RELATED [OMIM:267700] synonym: "HLH1" EXACT ABBREVIATION [DOID:0110921] synonym: "Hlh1" RELATED [OMIM:267700] synonym: "HPLH1" EXACT ABBREVIATION [DOID:0110921] synonym: "Hplh1" RELATED [OMIM:267700] synonym: "reticulosis, familial histiocytic" RELATED [OMIM:267700] xref: DOID:0110921 {source="MONDO:equivalentTo"} xref: MedDRA:10070904 {source="Orphanet:540/e", source="Orphanet:540"} xref: NCIT:C61276 {source="MONDO:equivalentTo"} xref: OMIM:267700 {source="DOID:0110921", source="Orphanet:540/e", source="MONDO:equivalentTo", source="Orphanet:540"} xref: UMLS:C0272199 {source="Orphanet:540/e", source="MONDO:equivalentTo", source="OMIM:267700", source="Orphanet:540", source="NCIT:C61276"} xref: UMLS:CN034020 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:CN205265 {source="MONDO:equivalentTo"} is_a: MONDO:0015144 {source="Orphanet:540"} ! brain inflammatory disease is_a: MONDO:0015541 {source="MONDO:Entailed", source="OMIM:267700", source="Orphanet:540"} ! hereditary hemophagocytic lymphohistiocytosis property_value: closeMatch http://identifiers.org/meddra/10070904 property_value: exactMatch DOID:0110921 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272199 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN034020 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205265 property_value: exactMatch https://omim.org/entry/267700 property_value: exactMatch NCIT:C61276 [Term] id: MONDO:0009977 name: obsolete Knobloch syndrome def: "OBSOLETE. Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele." [Orphanet:1571] property_value: IAO:0000231 IAO:0000229 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5404 xsd:anyURI is_obsolete: true replaced_by: MONDO:0800166 [Term] id: MONDO:0009978 name: retinal degeneration-nanophthalmos-glaucoma syndrome def: "Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive." [Orphanet:1574] subset: ordo_malformation_syndrome {source="Orphanet:1574"} synonym: "MacKay Shek Carr syndrome" RELATED [GARD:0000395] synonym: "Mackay-Shek-Carr syndrome" EXACT [Orphanet:1574] synonym: "retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma" RELATED [OMIM:267760] synonym: "retinal degeneration, nanophthalmos, glaucoma" RELATED [GARD:0000395] xref: ICD10CM:H35.5 {source="Orphanet:1574", source="Orphanet:1574/attributed", source="Orphanet:1574/ntbt", source="MONDO:directSiblingOf"} xref: MESH:C538364 {source="MONDO:equivalentTo"} xref: OMIM:267760 {source="Orphanet:1574", source="MONDO:equivalentTo", source="Orphanet:1574/e"} xref: Orphanet:1574 {source="OMIM:267760", source="MONDO:equivalentTo"} xref: SCTID:723503006 {source="MONDO:equivalentTo"} xref: UMLS:C2931831 {source="Orphanet:1574", source="OMIM:267760", source="MONDO:equivalentTo"} is_a: MONDO:0019118 {source="Orphanet:1574"} ! inherited retinal dystrophy property_value: exactMatch http://identifiers.org/mesh/C538364 property_value: exactMatch http://identifiers.org/snomedct/723503006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931831 property_value: exactMatch https://omim.org/entry/267760 property_value: exactMatch Orphanet:1574 property_value: excluded_subClassOf MONDO:0015217 {source="Orphanet:1574"} [Term] id: MONDO:0009979 name: reticular dystrophy of the retinal pigment epithelium def: "Reticular dystrophy of the retinal pigment epithelium is a patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. Reticular dystrophy of the retinal pigment epithelium is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris." [Orphanet:99002] subset: ordo_disease {source="Orphanet:99002"} synonym: "reticular dystrophy of retinal pigment epithelium" EXACT [MONDO:0008370, OMIM:179840] synonym: "retinal dystrophy, reticular pigmentary, of POSTERIOR POLE" RELATED [MESH:C564844, OMIM:267800, UMLS:C1849407] xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:99002/attributed", source="Orphanet:99002/ntbt", source="Orphanet:99002"} xref: MESH:C564844 {source="MONDO:mondoIsBroaderThanSource"} xref: MESH:C566721 {source="MONDO:equivalentTo"} xref: OMIM:179840 {source="MONDO:equivalentTo", source="Orphanet:99002/btnt", source="Orphanet:99002"} xref: OMIM:267800 {source="Orphanet:99002/e", source="MONDO:mondoIsBroaderThanSource", source="Orphanet:99002"} xref: Orphanet:99002 {source="MONDO:equivalentTo", source="OMIM:179840", source="OMIM:267800"} xref: SCTID:723502001 {source="MONDO:equivalentTo"} xref: UMLS:C1867332 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:179840", source="Orphanet:99002"} is_a: MONDO:0018973 {source="Orphanet:99002"} ! patterned dystrophy of the retinal pigment epithelium property_value: exactMatch http://identifiers.org/mesh/C566721 property_value: exactMatch http://identifiers.org/snomedct/723502001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867332 property_value: exactMatch https://omim.org/entry/179840 property_value: exactMatch Orphanet:99002 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5117 xsd:anyURI property_value: narrowMatch http://identifiers.org/mesh/C564844 property_value: narrowMatch https://omim.org/entry/267800 [Term] id: MONDO:0009983 name: retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome def: "Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism is an extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993." [Orphanet:3085] subset: ordo_malformation_syndrome {source="Orphanet:3085"} synonym: "insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and intellectual disability" RELATED [OMIM:268020] synonym: "insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and mental retardation" RELATED DEPRECATED [OMIM:268020] synonym: "retinitis pigmentosa, deafness, intellectual disability, and hypogonadism" RELATED [OMIM:268020] synonym: "retinitis pigmentosa, deafness, mental retardation, and hypogonadism" RELATED DEPRECATED [OMIM:268020] synonym: "retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome" EXACT [Orphanet:3085] synonym: "retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome" RELATED [Orphanet:3085] synonym: "retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome" EXACT [Orphanet:3085] xref: MESH:C564841 {source="MONDO:equivalentTo"} xref: OMIM:268020 {source="Orphanet:3085/e", source="MONDO:equivalentTo", source="Orphanet:3085"} xref: Orphanet:3085 {source="OMIM:268020", source="MONDO:equivalentTo"} xref: UMLS:C1849401 {source="OMIM:268020", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3085"} is_a: MONDO:0020240 {source="Orphanet:3085"} ! syndromic retinitis pigmentosa property_value: exactMatch http://identifiers.org/mesh/C564841 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849401 property_value: exactMatch https://omim.org/entry/268020 property_value: exactMatch Orphanet:3085 [Term] id: MONDO:0009985 name: retinohepatoendocrinologic syndrome def: "Retinohepatoendocrinologic syndrome is characterized by total colorblindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family." [Orphanet:3087] subset: gard_rare {source="GARD:0004685"} subset: ordo_malformation_syndrome {source="Orphanet:3087"} synonym: "retinohepatoendocrinologic syndrome" EXACT [OMIM:268040] synonym: "rhe syndrome" RELATED [OMIM:268040] xref: MESH:C564839 {source="MONDO:equivalentTo"} xref: OMIM:268040 {source="Orphanet:3087/e", source="MONDO:equivalentTo", source="Orphanet:3087"} xref: Orphanet:3087 {source="MONDO:equivalentObsolete", source="OMIM:268040"} xref: SCTID:724000006 {source="MONDO:equivalentTo"} xref: UMLS:C1849399 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:268040", source="Orphanet:3087"} is_a: MONDO:0015126 {source="Orphanet:3087"} ! polyendocrinopathy property_value: exactMatch http://identifiers.org/mesh/C564839 property_value: exactMatch http://identifiers.org/snomedct/724000006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849399 property_value: exactMatch https://omim.org/entry/268040 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4685/retinohepatoendocrinologic-syndrome xsd:anyURI {source="GARD:0004685"} [Term] id: MONDO:0009989 name: obsolete enhanced S-cone syndrome comment: Split into two terms. property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2684 xsd:anyURI is_obsolete: true replaced_by: MONDO:0100288 [Term] id: MONDO:0009990 name: Revesz syndrome def: "Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications." [Orphanet:3088] subset: gard_rare {source="GARD:0004695"} subset: ordo_malformation_syndrome {source="Orphanet:3088"} synonym: "DKCA5" EXACT ABBREVIATION [DOID:0070026] synonym: "dyskeratosis congenita with bilateral exudative retinopathy" EXACT [Orphanet:3088] synonym: "dyskeratosis congenita, autosomal dominant 5" EXACT [DOID:0070026, OMIM:268130] synonym: "exudative retinopathy with bone marrow failure" EXACT [DOID:0070026, OMIM:268130] synonym: "retinopathy-anemia-central nervous system anomalies syndrome" EXACT [Orphanet:3088] synonym: "Revesz syndrome" EXACT [OMIM:268130] synonym: "Revesz-DeBuse syndrome" EXACT [Orphanet:3088] xref: DOID:0070026 {source="MONDO:equivalentTo"} xref: MESH:C538371 {source="MONDO:equivalentTo"} xref: NCIT:C152064 {source="MONDO:equivalentTo"} xref: OMIM:268130 {source="Orphanet:3088/e", source="MONDO:equivalentTo", source="DOID:0070026", source="Orphanet:3088"} xref: Orphanet:3088 {source="OMIM:268130", source="MONDO:equivalentTo"} xref: SCTID:723512008 {source="MONDO:equivalentTo"} xref: UMLS:C1327916 {source="OMIM:268130", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3088"} is_a: MONDO:0015780 {source="DC-OMIM:268130", source="DOID:0070026", source="OMIM:268130"} ! dyskeratosis congenita is_a: MONDO:0019118 {source="MONDO:Redundant", source="Orphanet:3088"} ! inherited retinal dystrophy property_value: exactMatch DOID:0070026 property_value: exactMatch http://identifiers.org/mesh/C538371 property_value: exactMatch http://identifiers.org/snomedct/723512008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1327916 property_value: exactMatch https://omim.org/entry/268130 property_value: exactMatch NCIT:C152064 property_value: exactMatch Orphanet:3088 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4695/revesz-syndrome xsd:anyURI {source="GARD:0004695"} [Term] id: MONDO:0009996 name: rhizomelic syndrome, Urbach type def: "Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies." [Orphanet:3098] subset: ordo_malformation_syndrome {source="Orphanet:3098"} synonym: "familial rhizomelic dysplasia" RELATED [GARD:0004705] synonym: "rhizomelic dysplasia, familial" RELATED [OMIM:268250] synonym: "rhizomelic syndrome" RELATED [OMIM:268250] xref: MESH:C537611 {source="Orphanet:3098/e", source="MONDO:equivalentTo", source="Orphanet:3098"} xref: OMIM:268250 {source="Orphanet:3098/e", source="MONDO:equivalentTo", source="Orphanet:3098"} xref: Orphanet:3098 {source="OMIM:268250", source="MONDO:equivalentTo"} xref: UMLS:C1849382 {source="OMIM:268250", source="Orphanet:3098/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3098"} is_a: MONDO:0019697 {source="Orphanet:3098"} ! mesomelic and rhizo-mesomelic dysplasia property_value: exactMatch http://identifiers.org/mesh/C537611 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849382 property_value: exactMatch https://omim.org/entry/268250 property_value: exactMatch Orphanet:3098 [Term] id: MONDO:0009997 name: Roberts syndrome def: "Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS." [Orphanet:3103] comment: Reason: duplicate. This will be merged with MONDO:0100253 Roberts-SC phocomelia syndrome' subset: obsoletion_candidate subset: ordo_malformation_syndrome {source="Orphanet:3103"} synonym: "Appelt-Gerken-Lenz syndrome" EXACT [GARD:0007387] synonym: "long bone deficiencies associated with cleft lip-palate" RELATED [DOID:5325] synonym: "pseudothalidomide syndrome" EXACT [Orphanet:3103] synonym: "Roberts syndrome/SC phocomelia" BROAD [GARD:0007387] synonym: "Roberts tetraphocomelia syndrome" EXACT [GARD:0007387] synonym: "Roberts-SC phocomelia syndrome" BROAD [Orphanet:3103] synonym: "SC phocomelia" NARROW [Orphanet:3103] synonym: "SC phocomelia syndrome (mild variant of Roberts syndrome)" NARROW [GARD:0007387] synonym: "SC pseudothalidomide syndrome" NARROW [Orphanet:3103] synonym: "tetraphocomelia-cleft palate syndrome" EXACT [GARD:0007387] xref: DOID:5325 {source="MONDO:equivalentTo"} xref: MESH:C535687 {source="Orphanet:3103", source="DOID:5325", source="MONDO:equivalentTo", source="Orphanet:3103/e"} xref: NCIT:C126326 {source="MONDO:equivalentTo"} xref: Orphanet:3103 {source="MONDO:equivalentTo", source="OMIM:268300"} xref: SCTID:48718006 {source="DOID:5325", source="MONDO:equivalentTo"} is_a: MONDO:0100253 {source="https://github.com/monarch-initiative/mondo/issues/2553"} ! Roberts-SC phocomelia syndrome property_value: exactMatch DOID:5325 property_value: exactMatch http://identifiers.org/mesh/C535687 property_value: exactMatch http://identifiers.org/snomedct/48718006 property_value: exactMatch NCIT:C126326 property_value: exactMatch Orphanet:3103 property_value: excluded_subClassOf MONDO:0015335 {source="Orphanet:3103"} property_value: excluded_subClassOf MONDO:0017432 {source="Orphanet:3103"} property_value: excluded_subClassOf MONDO:0018455 {source="Orphanet:3103"} property_value: excluded_subClassOf MONDO:0020232 {source="Orphanet:3103"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2553 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4901 xsd:anyURI property_value: IAO:0006012 "2023-11-01" xsd:string [Term] id: MONDO:0009998 name: Richieri Costa-Pereira syndrome def: "Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive." [Orphanet:3102] subset: gard_rare {source="GARD:0004718"} subset: ordo_malformation_syndrome {source="Orphanet:3102"} synonym: "Richieri Costa Pereira syndrome" RELATED [GARD:0004718] synonym: "Richieri Costa-Pereira syndrome" EXACT [] synonym: "Richieri-Costa and Pereira form of acrofacial dysostosis" RELATED [GARD:0004718] synonym: "Richieri-Costa-Pereira syndrome" RELATED [OMIM:268305] synonym: "ROBIN sequence with cleft mandible and limb anomalies" RELATED [OMIM:268305] synonym: "short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot" RELATED [GARD:0004718] synonym: "short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome" EXACT [Orphanet:3102] synonym: "short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome" EXACT [Orphanet:3102] xref: MESH:C535677 {source="Orphanet:3102", source="MONDO:equivalentTo", source="Orphanet:3102/e"} xref: OMIM:268305 {source="Orphanet:3102", source="MONDO:equivalentTo", source="Orphanet:3102/e"} xref: Orphanet:3102 {source="MONDO:equivalentTo", source="OMIM:268305"} xref: SCTID:723998001 {source="MONDO:equivalentTo"} xref: UMLS:C1849348 {source="Orphanet:3102", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3102/e", source="OMIM:268305"} is_a: MONDO:0015161 {source="Orphanet:3102"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0800085 {source="PMID:31633310"} ! dysostosis with predominant craniofacial involvement property_value: exactMatch http://identifiers.org/mesh/C535677 property_value: exactMatch http://identifiers.org/snomedct/723998001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849348 property_value: exactMatch https://omim.org/entry/268305 property_value: exactMatch Orphanet:3102 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4718/richieri-costa-pereira-syndrome xsd:anyURI {source="GARD:0004718"} [Term] id: MONDO:0009999 name: autosomal recessive Robinow syndrome def: "Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia." [Orphanet:1507] subset: ordo_clinical_subtype {source="Orphanet:1507"} synonym: "costovertebral segmentation defect with mesomelia" RELATED [OMIM:268310] synonym: "costovertebral segmentation defect with mesomelia, formerly" RELATED [OMIM:268310] synonym: "costovertebral segmentation defect-mesomelia syndrome" EXACT [DOID:0060764, Orphanet:1507] synonym: "COVESDEM syndrome" EXACT [DOID:0060764, Orphanet:1507] synonym: "Covesdem syndrome" RELATED [OMIM:268310] synonym: "Covesdem syndrome, formerly" RELATED [OMIM:268310] synonym: "Robinow syndrome, autosomal recessive" EXACT [MONDO:Lexical, MONDO:patterns/autosomal_recessive, OMIM:268310] synonym: "Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals" RELATED [OMIM:268310] synonym: "Robinow syndrome, autosomal recessive, with Brachy-syn-polydactyly" RELATED [OMIM:268310] synonym: "RRS" EXACT ABBREVIATION [DOID:0060764, MONDO:Lexical, OMIM:268310, Orphanet:1507] xref: DOID:0060764 {source="MONDO:equivalentTo"} xref: MESH:C535863 {source="Orphanet:1507/e", source="MONDO:equivalentTo", source="Orphanet:1507"} xref: OMIM:268310 {source="Orphanet:1507/e", source="MONDO:equivalentTo", source="DOID:0060764", source="Orphanet:1507"} xref: Orphanet:1507 {source="OMIM:268310", source="MONDO:equivalentTo", source="DOID:0060764"} xref: UMLS:C1849334 {source="Orphanet:1507/e", source="OMIM:268310", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1507"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0019978 {source="DC-OMIM:268310", source="DOID:0060764", source="MONDO:Redundant", source="OMIM:268310", source="Orphanet:1507"} ! Robinow syndrome property_value: exactMatch DOID:0060764 property_value: exactMatch http://identifiers.org/mesh/C535863 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849334 property_value: exactMatch https://omim.org/entry/268310 property_value: exactMatch Orphanet:1507 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0010000 name: rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction synonym: "rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction" EXACT [OMIM:268315] xref: MESH:C564829 {source="MONDO:equivalentTo"} xref: OMIM:268315 {source="MONDO:equivalentTo"} xref: UMLS:C1849333 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:268315"} is_a: EFO:0000508 {source="MESH:C564829/inferred"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C564829 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849333 property_value: exactMatch https://omim.org/entry/268315 [Term] id: MONDO:0010001 name: ectodermal dysplasia-blindness syndrome def: "Ectodermal dysplasia-blindness syndrome is characterized by intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait." [Orphanet:1806] subset: ordo_malformation_syndrome {source="Orphanet:1806"} synonym: "microphthalmia, microcornea, and sclerocornea with short stature and hair and dental abnormalities" RELATED [OMIM:268320] synonym: "microphthalmos, microcornea, and sclerocornea with short stature and hair and dental abnormalities" RELATED [GARD:0000293] synonym: "RODRIGUES blindness" RELATED [OMIM:268320] xref: MESH:C535865 {source="MONDO:equivalentTo"} xref: OMIM:268320 {source="Orphanet:1806/e", source="MONDO:equivalentTo", source="Orphanet:1806"} xref: Orphanet:1806 {source="OMIM:268320", source="MONDO:equivalentTo"} xref: UMLS:C1849332 {source="OMIM:268320", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1806"} is_a: EFO:0003966 ! eye disease is_a: MONDO:0019287 {source="Orphanet:1806"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C535865 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849332 property_value: exactMatch https://omim.org/entry/268320 property_value: exactMatch Orphanet:1806 [Term] id: MONDO:0010002 name: Rothmund-Thomson syndrome def: "Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers." [Orphanet:2909] comment: Editor note: check whether properties apply to both 1 and 2, or just type 2 subset: ordo_disease {source="Orphanet:2909"} synonym: "congenital poikiloderma" EXACT [DOID:2732] synonym: "poikiloderma atrophicans and cataract" RELATED [OMIM:268400] synonym: "poikiloderma congenitale" RELATED [GARD:0004392] synonym: "poikiloderma of Rothmund-Thomson" EXACT [Orphanet:2909] synonym: "Rothmund-Thomson syndrome" EXACT [MONDO:Lexical, OMIM:268400] synonym: "RTS" EXACT ABBREVIATION [DOID:2732, MONDO:Lexical, NCIT:C3335, OMIM:268400, Orphanet:2909] xref: DOID:2732 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D011038 {source="Orphanet:2909", source="DOID:2732", source="MONDO:equivalentTo", source="Orphanet:2909/e"} xref: NCIT:C3335 {source="DOID:2732", source="MONDO:equivalentTo"} xref: OMIMPS:268400 {source="MONDO:equivalentTo"} xref: Orphanet:2909 {source="MONDO:equivalentTo", source="OMIM:268400"} xref: SCTID:69093006 {source="DOID:2732", source="MONDO:equivalentTo"} xref: UMLS:C0032339 {source="Orphanet:2909", source="DOID:2732", source="MONDO:equivalentTo", source="OMIM:268400", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2909/e", source="NCIT:C3335"} is_a: MONDO:0015356 {source="NCIT:C3335"} ! hereditary neoplastic syndrome is_a: MONDO:0015951 {source="Orphanet:2909", source="PMID:27745641"} ! hereditary photodermatosis is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:2909", source="Orphanet:2909/inferred"} ! disorder of development or morphogenesis is_a: MONDO:0100137 {source="PMID:29804726"} ! telomere syndrome property_value: exactMatch DOID:2732 property_value: exactMatch http://identifiers.org/mesh/D011038 property_value: exactMatch http://identifiers.org/snomedct/69093006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032339 property_value: exactMatch https://omim.org/phenotypicSeries/PS268400 property_value: exactMatch NCIT:C3335 property_value: exactMatch Orphanet:2909 property_value: excluded_subClassOf MONDO:0005328 property_value: excluded_subClassOf MONDO:0015333 {source="Orphanet:2909"} property_value: excluded_subClassOf MONDO:0016382 {source="Orphanet:2909"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1567 xsd:anyURI [Term] id: MONDO:0010004 name: EEC syndrome def: "EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." [Orphanet:1896] subset: gard_rare {source="GARD:0002076"} subset: ordo_malformation_syndrome {source="Orphanet:1896"} synonym: "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome" EXACT [DOID:0060782] synonym: "ectrodactyly-cleft lip/palate syndrome" RELATED [GARD:0002076] synonym: "ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate" RELATED [GARD:0002076] synonym: "ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome" EXACT [Orphanet:1896] synonym: "ectrodactyly-ectodermal dysplasia-cleft syndrome" EXACT [NCIT:C148261] synonym: "ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome" RELATED [GARD:0002076] synonym: "ectrodactyly-ectodermal dysplasia-clefting syndrome" EXACT [DOID:0060782] synonym: "RUDIGER syndrome" RELATED [OMIM:268650] synonym: "Rudiger syndrome 1" EXACT [DOID:0060782] synonym: "Walker-Clodius syndrome" EXACT [DOID:0060782] xref: DOID:0060782 {source="MONDO:equivalentTo"} xref: MESH:C536189 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: NCIT:C148261 {source="MONDO:equivalentTo"} xref: OMIM:268650 {source="MONDO:equivalentTo"} xref: Orphanet:1896 {source="DOID:0060782", source="MONDO:equivalentTo"} xref: SCTID:39788007 {source="MONDO:equivalentTo"} xref: UMLS:C0406704 {source="DOID:0060782", source="OMIM:268650", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1896", source="Orphanet:1896/e"} xref: UMLS:CN776907 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 {source="DOID:0060782", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation is_a: MONDO:0020160 {source="Orphanet:1896"} ! secondary entropion is_a: MONDO:0020197 {source="Orphanet:1896"} ! EEC syndrome and related syndrome property_value: exactMatch DOID:0060782 property_value: exactMatch http://identifiers.org/mesh/C536189 property_value: exactMatch http://identifiers.org/snomedct/39788007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406704 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776907 property_value: exactMatch https://omim.org/entry/268650 property_value: exactMatch NCIT:C148261 property_value: exactMatch Orphanet:1896 property_value: excluded_subClassOf MONDO:0015501 {source="Orphanet:1896"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2076/eec-syndrome xsd:anyURI {source="GARD:0002076"} [Term] id: MONDO:0010005 name: saccharopinuria def: "Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria." [Orphanet:3124] subset: ordo_disease {source="Orphanet:3124"} synonym: "Alpha-aminoadipic semialdehyde synthase deficiency" RELATED [OMIM:268700] synonym: "hyperlysinemia type II" EXACT [Orphanet:3124] synonym: "hyperlysinemia, type 2" RELATED [OMIM:268700] synonym: "saccharopine dehydrogenase deficiency" EXACT [OMIM:268700, Orphanet:3124] synonym: "saccharopinuria" EXACT [OMIM:268700] xref: ICD9:270.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537218 {source="Orphanet:3124", source="MONDO:equivalentTo", source="Orphanet:3124/e"} xref: OMIM:268700 {source="Orphanet:3124", source="MONDO:equivalentTo", source="Orphanet:3124/e"} xref: Orphanet:3124 {source="MONDO:equivalentTo", source="OMIM:268700"} xref: SCTID:111397004 {source="MONDO:equivalentTo"} xref: UMLS:C0268556 {source="Orphanet:3124", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3124/e", source="OMIM:268700"} is_a: MONDO:0017351 {source="Orphanet:3124"} ! inborn disorder of lysine and hydroxylysine metabolism property_value: exactMatch http://identifiers.org/mesh/C537218 property_value: exactMatch http://identifiers.org/snomedct/111397004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268556 property_value: exactMatch https://omim.org/entry/268700 property_value: exactMatch Orphanet:3124 [Term] id: MONDO:0010006 name: Sandhoff disease def: "Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterized by central nervous system degeneration." [Orphanet:796] subset: gard_rare subset: ordo_disease {source="Orphanet:796"} synonym: "Beta-hexosaminidase-beta-subunit deficiency" RELATED [GARD:0007604] synonym: "GM2 gangliosidosis 0 variant" EXACT [Orphanet:796] synonym: "GM2 gangliosidosis, 0 variant" RELATED [GARD:0002521] synonym: "GM2 gangliosidosis, type 2" RELATED [GARD:0007604] synonym: "GM2-gangliosidosis, type 2" RELATED [OMIM:268800] synonym: "hexosaminidase A and B deficiency disease" RELATED [GARD:0007604] synonym: "Hexosaminidases A and B deficiency" EXACT [Orphanet:796] synonym: "Hexosaminidases a and B deficiency" RELATED [OMIM:268800] synonym: "Sandhoff disease" EXACT [OMIM:268800] synonym: "Sandhoff disease, adult type" RELATED [OMIM:268800] synonym: "Sandhoff disease, infantile type" RELATED [OMIM:268800] synonym: "Sandhoff disease, infantile, juvenile, and adult forms" EXACT [OMIM:268800, OMIM:genemap2] synonym: "Sandhoff disease, juvenile type" RELATED [OMIM:268800] synonym: "Sandhoff Jatzkewitz disease" EXACT [DOID:3323] synonym: "Sandhoff-Jatzkewitz-Pilz disease" RELATED [GARD:0007604] synonym: "total hexosaminidase deficiency" RELATED [GARD:0007604] xref: DOID:3323 {source="MONDO:equivalentTo"} xref: ICD10CM:E75.01 {source="DOID:3323", source="MONDO:equivalentTo"} xref: MESH:D012497 {source="Orphanet:796", source="DOID:3323", source="MONDO:equivalentTo", source="Orphanet:796/e"} xref: NCIT:C85052 {source="DOID:3323", source="MONDO:equivalentTo"} xref: OMIM:268800 {source="Orphanet:796", source="DOID:3323", source="MONDO:equivalentTo", source="Orphanet:796/e"} xref: Orphanet:796 {source="MONDO:equivalentTo", source="OMIM:268800"} xref: SCTID:23849003 {source="DOID:3323", source="MONDO:equivalentTo"} xref: UMLS:C0036161 {source="Orphanet:796", source="DOID:3323", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C85052", source="Orphanet:796/e", source="OMIM:268800"} is_a: MONDO:0004884 ! eye degenerative disorder is_a: MONDO:0017720 {source="DOID:3323", source="ICD10CM:E75.01", source="MESH:D012497", source="Orphanet:796"} ! GM2 gangliosidosis is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy is_a: MONDO:0020143 {source="Orphanet:796"} ! cerebral lipidosis with dementia property_value: exactMatch DOID:3323 property_value: exactMatch http://identifiers.org/mesh/D012497 property_value: exactMatch http://identifiers.org/snomedct/23849003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036161 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E75.01 property_value: exactMatch https://omim.org/entry/268800 property_value: exactMatch NCIT:C85052 property_value: exactMatch Orphanet:796 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010007 name: microbrachycephaly-ptosis-cleft lip syndrome def: "Microbrachycephaly-ptosis-cleft lip syndrome is characterized by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive." [Orphanet:2511] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2511"} synonym: "microbrachycephaly ptosis cleft lip" RELATED [GARD:0003596] synonym: "Richieri Costa-Guion Almeida-Ramos syndrome" EXACT [Orphanet:2511] synonym: "Richieri-COSTA/Guion-Almeida syndrome" RELATED [OMIM:268850] synonym: "sao Paulo MCA/Mr syndrome" RELATED [OMIM:268850] synonym: "short stature, intellectual disability, eye anomalies, and cleft Lip/palate" RELATED [OMIM:268850] synonym: "short stature, mental retardation, eye anomalies, and cleft Lip/palate" RELATED DEPRECATED [OMIM:268850] xref: OMIM:268850 {source="Orphanet:2511", source="MONDO:equivalentTo", source="Orphanet:2511/e"} xref: Orphanet:2511 {source="GARD:0003596", source="MONDO:equivalentTo", source="OMIM:268850"} xref: UMLS:C0796142 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:268850"} is_a: MONDO:0015159 {source="Orphanet:2511"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796142 property_value: exactMatch https://omim.org/entry/268850 property_value: exactMatch Orphanet:2511 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2511"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3596/microbrachycephaly-ptosis-cleft-lip xsd:anyURI {source="GARD:0003596"} [Term] id: MONDO:0010008 name: sarcosinemia def: "Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency." [Orphanet:3129] subset: gard_rare {source="GARD:0000158"} subset: ordo_disease {source="Orphanet:3129"} synonym: "hypersarcosinemia" RELATED [OMIM:268900] synonym: "SARCOS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:268900] synonym: "sarcosine dehydrogenase complex deficiency" RELATED [OMIM:268900, Orphanet:3129] synonym: "sarcosinemia" EXACT [MONDO:Lexical, OMIM:268900, OMIM:genemap2] synonym: "SARD deficiency" RELATED [OMIM:268900] synonym: "SARDH deficiency" RELATED [OMIM:268900] xref: DOID:0112307 {source="MONDO:equivalentTo"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10059299 {source="Orphanet:3129", source="Orphanet:3129/e"} xref: MESH:C537236 {source="MONDO:equivalentTo", source="Orphanet:3129", source="Orphanet:3129/e"} xref: OMIM:268900 {source="MONDO:equivalentTo", source="Orphanet:3129", source="Orphanet:3129/e"} xref: Orphanet:3129 {source="MONDO:equivalentTo", source="OMIM:268900"} xref: SCTID:64852002 {source="MONDO:equivalentTo"} xref: UMLS:C0268563 {source="MONDO:equivalentTo", source="Orphanet:3129", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3129/e", source="OMIM:268900"} is_a: MONDO:0019239 ! inborn disorder of serine family metabolism is_a: MONDO:0045020 ! glycine metabolism disease is_a: MONDO:0100477 {source="PMID:33340416"} ! disorder of methylamine metabolism property_value: closeMatch http://identifiers.org/meddra/10059299 property_value: exactMatch DOID:0112307 property_value: exactMatch http://identifiers.org/mesh/C537236 property_value: exactMatch http://identifiers.org/snomedct/64852002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268563 property_value: exactMatch https://omim.org/entry/268900 property_value: exactMatch Orphanet:3129 property_value: excluded_subClassOf MONDO:0019239 {source="Orphanet:3129"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/158/sarcosinemia xsd:anyURI {source="GARD:0000158"} [Term] id: MONDO:0010010 name: Schinzel-Giedion syndrome def: "Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies." [Orphanet:798] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:798"} synonym: "Schinzel Giedion midface-retraction syndrome" RELATED [GARD:0000117] synonym: "Schinzel Giedion syndrome" RELATED [GARD:0000117] synonym: "Schinzel-Giedion midface retraction syndrome" RELATED [OMIM:269150] synonym: "Schinzel-Giedion midface-retraction syndrome" EXACT [NCIT:C129308] synonym: "Schinzel-Giedion syndrome" EXACT [GARD:0000117] synonym: "SGS" EXACT ABBREVIATION [Orphanet:798] synonym: "Sgs" RELATED [OMIM:269150] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10063540 {source="Orphanet:798", source="Orphanet:798/e"} xref: MESH:C536632 {source="MONDO:equivalentTo"} xref: NCIT:C129308 {source="MONDO:equivalentTo"} xref: OMIM:269150 {source="Orphanet:798", source="MONDO:equivalentTo", source="GARD:0000117", source="Orphanet:798/e"} xref: Orphanet:798 {source="MONDO:equivalentTo", source="GARD:0000117", source="OMIM:269150"} xref: SCTID:18899000 {source="MONDO:equivalentTo"} xref: UMLS:C0265227 {source="Orphanet:798", source="MONDO:equivalentTo", source="Orphanet:798/e", source="NCIT:C129308", source="OMIM:269150"} is_a: MONDO:0000508 {source="Orphanet:798", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015160 {source="Orphanet:798"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0019287 {source="Orphanet:798"} ! ectodermal dysplasia syndrome property_value: closeMatch http://identifiers.org/meddra/10063540 property_value: exactMatch http://identifiers.org/mesh/C536632 property_value: exactMatch http://identifiers.org/snomedct/18899000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265227 property_value: exactMatch https://omim.org/entry/269150 property_value: exactMatch NCIT:C129308 property_value: exactMatch Orphanet:798 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010011 name: schizencephaly def: "Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation." [Orphanet:799] subset: gard_rare subset: ordo_disease {source="Orphanet:799"} synonym: "schizencephaly" EXACT [OMIM:269160] xref: ICD9:742.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D065707 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: NCIT:C99056 {source="MONDO:equivalentTo"} xref: OMIM:269160 {source="Orphanet:799", source="GARD:0000166", source="MONDO:equivalentTo", source="Orphanet:799/e"} xref: Orphanet:799 {source="GARD:0000166", source="MONDO:equivalentTo", source="OMIM:269160"} xref: SCTID:253159001 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 {source="NCIT:C99056"} ! congenital nervous system disorder is_a: MONDO:0017103 {source="Orphanet:799"} ! encephaloclastic disorder property_value: exactMatch http://identifiers.org/mesh/D065707 property_value: exactMatch http://identifiers.org/snomedct/253159001 property_value: exactMatch https://omim.org/entry/269160 property_value: exactMatch NCIT:C99056 property_value: exactMatch Orphanet:799 [Term] id: MONDO:0010013 name: schneckenbecken dysplasia def: "Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia." [Orphanet:3144] subset: gard_rare {source="GARD:0000169"} subset: ordo_malformation_syndrome {source="Orphanet:3144"} synonym: "chondrodysplasia lethal neonatal with snail like pelvis" RELATED [GARD:0000169] synonym: "chondrodysplasia with snail-like pelvis" EXACT [Orphanet:3144] synonym: "chondrodysplasia, lethal neonatal, with snail-like pelvis" RELATED [OMIM:269250] synonym: "schneckenbecken dysplasia" EXACT [OMIM:269250] synonym: "SHNKND" RELATED ABBREVIATION [OMIM:269250] synonym: "SLC35D1-CDG" EXACT [Orphanet:3144] xref: DOID:0050775 {source="MONDO:equivalentTo"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536637 {source="Orphanet:3144", source="MONDO:equivalentTo", source="Orphanet:3144/e"} xref: OMIM:269250 {source="Orphanet:3144", source="DOID:0050775", source="MONDO:equivalentTo", source="Orphanet:3144/e"} xref: Orphanet:3144 {source="MONDO:equivalentTo", source="OMIM:269250"} xref: SCTID:254049009 {source="MONDO:equivalentTo"} xref: UMLS:C0432194 {source="Orphanet:3144", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3144/e", source="OMIM:269250"} is_a: EFO:0005571 {source="DOID:0050775", source="MESH:C536637"} ! osteochondrodysplasia is_a: MONDO:0017744 {source="Orphanet:3144"} ! disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis is_a: MONDO:0018292 {source="Orphanet:3144"} ! congenital disorder of glycosylation-related bone disorder is_a: MONDO:0800080 {source="PMID:31633310"} ! severe spondylodysplastic dysplasia property_value: exactMatch DOID:0050775 property_value: exactMatch http://identifiers.org/mesh/C536637 property_value: exactMatch http://identifiers.org/snomedct/254049009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432194 property_value: exactMatch https://omim.org/entry/269250 property_value: exactMatch Orphanet:3144 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/169/schneckenbecken-dysplasia xsd:anyURI {source="GARD:0000169"} [Term] id: MONDO:0010014 name: craniometadiaphyseal dysplasia, wormian bone type def: "Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted." [Orphanet:85184] comment: OMIM obsoleted 615118 and moved this to 269300 then renamed 269300 to what 615118 was called and did not retain as a synonym the old name of 269300. I merged these and swapped the name and synonym to retain the information - smb. {source="OMIM:269300"} subset: ordo_malformation_syndrome {source="Orphanet:85184"} synonym: "CRANIOMETADIAPHYSEAL dysplasia" RELATED [MONDO:Lexical, OMIM:269300] synonym: "CRMDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:269300] synonym: "Schwartz-Lelek syndrome" EXACT [OMIM:269300] xref: OMIM:269300 {source="Orphanet:85184/e", source="MONDO:equivalentTo", source="Orphanet:85184"} xref: Orphanet:85184 {source="OMIM:269300", source="MONDO:equivalentTo"} xref: SCTID:278833002 {source="MONDO:equivalentTo"} is_a: MONDO:0800084 {source="PMID:31633310"} ! primary bone dysplasia with increased bone density property_value: exactMatch http://identifiers.org/snomedct/278833002 property_value: exactMatch https://omim.org/entry/269300 property_value: exactMatch Orphanet:85184 property_value: excluded_subClassOf MONDO:0019703 {source="Orphanet:85184"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0010015 name: anterior segment dysgenesis 7 def: "Any anterior segment dysgenesis in which the cause of the disease is a mutation in the PXDN gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_malformation_syndrome {source="Orphanet:289499"} synonym: "anterior segment dysgenesis 7" EXACT [OMIM:269400] synonym: "anterior segment dysgenesis 7, with sclerocornea" EXACT [OMIM:269400, OMIM:genemap2] synonym: "anterior segment dysgenesis caused by mutation in PXDN" EXACT [MONDO:design_pattern] synonym: "ASGD7" RELATED ABBREVIATION [OMIM:269400] synonym: "CCMCO" EXACT ABBREVIATION [Orphanet:289499] synonym: "congenital cataract microcornea with corneal opacity" RELATED [Orphanet:289499] synonym: "COPOA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:269400] synonym: "corneal opacification and other ocular anomalies" RELATED [DOID:0060648] synonym: "corneal opacification with Other ocular anomalies" RELATED [OMIM:269400] synonym: "corneal opacification with other ocular anomalies" RELATED [MONDO:Lexical, OMIM:269400] synonym: "PXDN anterior segment dysgenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "sclerocornea with Other ocular anomalies" RELATED [OMIM:269400] synonym: "sclerocornea with other ocular anomalies" EXACT [DOID:0060648] xref: DOID:0080612 {source="MONDO:equivalentTo"} xref: OMIM:269400 {source="Orphanet:289499", source="MONDO:equivalentTo", source="Orphanet:289499/e"} xref: Orphanet:289499 {source="MONDO:equivalentTo", source="OMIM:269400"} xref: UMLS:C3151617 {source="MONDO:equivalentTo", source="OMIM:269400"} is_a: MONDO:0019503 {source="DC-OMIM:269400", source="MONDO:Redundant", source="OMIM:269400"} ! anterior segment dysgenesis is_a: MONDO:0019629 {source="DOID:0060648"} ! sclerocornea property_value: exactMatch DOID:0080612 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151617 property_value: exactMatch https://omim.org/entry/269400 property_value: exactMatch Orphanet:289499 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010017 name: sea-blue histiocyte syndrome def: "A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly." [NCIT:P378] subset: clingen subset: ordo_disease {source="Orphanet:158029"} synonym: "histiocytosis, Sea-blue" RELATED [OMIM:269600] synonym: "inherited Lipemic splenomegaly" RELATED [GARD:0008241] synonym: "SEA-blue histiocyte disease" RELATED [OMIM:269600] synonym: "sea-blue histiocytosis" RELATED [OMIM:269600] xref: DOID:4423 {source="MONDO:equivalentTo", source="EFO:1001170"} xref: EFO:1001170 {source="MONDO:equivalentTo"} xref: MESH:D012618 {source="DOID:4423", source="MONDO:equivalentTo", source="EFO:1001170"} xref: NCIT:C85062 {source="DOID:4423", source="MONDO:equivalentTo", source="EFO:1001170"} xref: OMIM:269600 {source="Orphanet:158029", source="DOID:4423", source="MONDO:equivalentTo", source="Orphanet:158029/e"} xref: Orphanet:158029 {source="MONDO:equivalentTo", source="OMIM:269600"} xref: SCTID:37821003 {source="DOID:4423", source="MONDO:equivalentTo", source="EFO:1001170"} xref: UMLS:C0036489 {source="NCIT:C85062", source="Orphanet:158029", source="DOID:4423", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:269600", source="Orphanet:158029/e"} is_a: MONDO:0015531 {source="DOID:4423", source="MESH:D012618"} ! non-Langerhans cell histiocytosis is_a: MONDO:0015905 ! syndromic dyslipidemia is_a: MONDO:0019255 {source="DOID:4423", source="MESH:D012618", source="Orphanet:158029"} ! sphingolipidosis relationship: disease_has_feature EFO:0005561 {source="EFO:1001170"} ! histiocytoma property_value: exactMatch DOID:4423 property_value: exactMatch http://identifiers.org/mesh/D012618 property_value: exactMatch http://identifiers.org/snomedct/37821003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036489 property_value: exactMatch https://omim.org/entry/269600 property_value: exactMatch NCIT:C85062 property_value: exactMatch Orphanet:158029 [Term] id: MONDO:0010023 name: combined immunodeficiency due to ZAP70 deficiency def: "Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction." [Orphanet:911] subset: ordo_disease {source="Orphanet:911"} synonym: "IMD48" RELATED ABBREVIATION [OMIM:269840] synonym: "immunodeficiency 48" RELATED [OMIM:269840] synonym: "selective T-cell defect" RELATED [MONDO:Lexical, OMIM:269840] synonym: "severe combined immunodeficiency due to ZAP70 deficiency" RELATED [GARD:0000387] synonym: "STCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:269840] synonym: "ZAP-70 deficiency" RELATED [GARD:0000387] synonym: "zeta-associated-protein 70 deficiency" EXACT [Orphanet:911] xref: DOID:0111943 {source="MONDO:equivalentTo"} xref: MESH:C536722 {source="MONDO:equivalentTo"} xref: OMIM:269840 {source="Orphanet:911", source="MONDO:equivalentTo", source="Orphanet:911/e"} xref: Orphanet:911 {source="MONDO:equivalentTo", source="OMIM:269840"} xref: SCTID:716378008 {source="MONDO:equivalentTo"} is_a: MONDO:0021094 {source="OMIM:269840"} ! immunodeficiency disease property_value: exactMatch DOID:0111943 property_value: exactMatch http://identifiers.org/mesh/C536722 property_value: exactMatch http://identifiers.org/snomedct/716378008 property_value: exactMatch https://omim.org/entry/269840 property_value: exactMatch Orphanet:911 property_value: excluded_subClassOf MONDO:0018814 {source="Orphanet:911"} [Term] id: MONDO:0010024 name: Beemer-Langer syndrome def: "Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal." [Orphanet:93268] subset: ordo_malformation_syndrome {source="Orphanet:93268"} synonym: "Beemer Langer syndrome" RELATED [GARD:0004832] synonym: "Beemer-Langer syndrome" EXACT [OMIM:269860] synonym: "short rib polydactyly syndrome Beemer-Langer type" RELATED [GARD:0004832] synonym: "short rib syndrome, Beemer type" RELATED [OMIM:269860] synonym: "short rib-polydactyly syndrome Beemer type" RELATED [GARD:0004832] synonym: "short rib-polydactyly syndrome type 4" EXACT [Orphanet:93268] synonym: "short rib-polydactyly syndrome type IV" RELATED [GARD:0004832] synonym: "short rib-polydactyly syndrome, Beemer-Langer type" RELATED [Orphanet:93268] synonym: "short rib-polydactyly syndrome, type 4" RELATED [OMIM:269860] synonym: "short-rib thoracic dysplasia 12" RELATED [MONDO:Lexical, OMIM:269860] synonym: "Srps 4" RELATED [OMIM:269860] synonym: "SRPS type 4" RELATED [GARD:0004832] synonym: "SRTD12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:269860] synonym: "type IV short rib polydactyly syndrome" EXACT [DOID:9249] xref: DOID:9249 {source="MONDO:equivalentTo"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537599 {source="DOID:9249", source="MONDO:equivalentTo"} xref: OMIM:269860 {source="DOID:9249", source="MONDO:equivalentTo", source="Orphanet:93268", source="Orphanet:93268/e"} xref: Orphanet:93268 {source="OMIM:269860", source="MONDO:equivalentTo"} xref: SCTID:254052001 {source="DOID:9249", source="MONDO:equivalentTo"} xref: UMLS:C0432198 {source="DOID:9249", source="OMIM:269860", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:93268"} is_a: MONDO:0018770 {source="OMIM:269860"} ! Jeune syndrome property_value: exactMatch DOID:9249 property_value: exactMatch http://identifiers.org/mesh/C537599 property_value: exactMatch http://identifiers.org/snomedct/254052001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432198 property_value: exactMatch https://omim.org/entry/269860 property_value: exactMatch Orphanet:93268 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0010026 name: SHORT syndrome def: "SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease." [Orphanet:3163] subset: ordo_malformation_syndrome {source="Orphanet:3163"} synonym: "Aarskog-Ose-Pande syndrome" EXACT [Orphanet:3163] synonym: "lipodystrophy, partial, with Rieger anomaly and short stature" RELATED [OMIM:269880] synonym: "lipodystrophy-Rieger anomaly-diabetes syndrome" EXACT [Orphanet:3163] synonym: "partial lipodystrophy with Rieger anomaly and short stature" RELATED [GARD:0007633] synonym: "Rieger anomaly-partial lipodystrophy syndrome" EXACT [Orphanet:3163] synonym: "short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly and teething delay" RELATED [GARD:0007633] synonym: "short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay" RELATED [OMIM:269880] synonym: "SHORT syndrome" EXACT [] synonym: "short syndrome" EXACT [OMIM:269880] xref: DOID:0111454 {source="MONDO:equivalentTo"} xref: MESH:C537327 {source="Orphanet:3163/e", source="MONDO:equivalentTo", source="Orphanet:3163"} xref: OMIM:269880 {source="Orphanet:3163/e", source="MONDO:equivalentTo", source="Orphanet:3163"} xref: Orphanet:3163 {source="OMIM:269880", source="MONDO:equivalentTo"} xref: UMLS:C0878684 {source="Orphanet:3163/e", source="OMIM:269880", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3163"} is_a: MONDO:0015160 {source="Orphanet:3163"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0015161 {source="Orphanet:3163"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0020087 {source="Orphanet:3163"} ! hereditary lipodystrophy is_a: MONDO:0020210 {source="Orphanet:3163"} ! syndromic hyperopia property_value: exactMatch DOID:0111454 property_value: exactMatch http://identifiers.org/mesh/C537327 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0878684 property_value: exactMatch https://omim.org/entry/269880 property_value: exactMatch Orphanet:3163 property_value: excluded_subClassOf MONDO:0005015 {source="MONDO:0015885-obsoleted"} property_value: excluded_subClassOf MONDO:0015333 {source="Orphanet:3163"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1567 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5723 xsd:anyURI [Term] id: MONDO:0010027 name: free sialic acid storage disease, infantile form subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:309324"} synonym: "infantile free sialic acid storage disease" RELATED [GARD:0000175] synonym: "infantile sialic acid storage disease" RELATED [MONDO:Lexical, OMIM:269920] synonym: "infantile sialic acid storage disorder" RELATED [GARD:0000175] synonym: "ISSD" EXACT ABBREVIATION [GARD:0000175, MONDO:Lexical, OMIM:269920, Orphanet:309324] synonym: "N-acetylneuraminic acid storage disease" RELATED [OMIM:269920] synonym: "Nana storage disease" RELATED [OMIM:269920] synonym: "sialic acid storage disorder, infantile" EXACT [OMIM:269920, OMIM:genemap2] synonym: "sialuria, infantile form" RELATED [GARD:0000175, OMIM:269920] xref: MedDRA:10067532 {source="Orphanet:309324/e", source="Orphanet:309324"} xref: OMIM:269920 {source="Orphanet:309324/e", source="GARD:0000175", source="MONDO:equivalentTo", source="Orphanet:309324"} xref: Orphanet:309324 {source="MONDO:equivalentTo", source="OMIM:269920"} xref: SCTID:34566007 {source="MONDO:equivalentTo"} is_a: MONDO:0017706 {source="PMID:33340416"} ! disorder of carbohydrate transmembrane transport and absorption is_a: MONDO:0019366 {source="Orphanet:309324"} ! free sialic acid storage disease is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement property_value: closeMatch http://identifiers.org/meddra/10067532 property_value: exactMatch http://identifiers.org/snomedct/34566007 property_value: exactMatch https://omim.org/entry/269920 property_value: exactMatch Orphanet:309324 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0010028 name: sialuria def: "Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood." [Orphanet:3166] subset: ordo_disease {source="Orphanet:3166"} synonym: "sialuria" EXACT [OMIM:269921] synonym: "sialuria, French type" EXACT [OMIM:269921, Orphanet:3166] xref: DOID:3659 {source="MONDO:equivalentTo"} xref: ICD9:796.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10067529 {source="Orphanet:3166", source="Orphanet:3166/e"} xref: OMIM:269921 {source="Orphanet:3166", source="MONDO:equivalentTo", source="Orphanet:3166/e", source="DOID:3659"} xref: Orphanet:3166 {source="MONDO:equivalentTo", source="OMIM:269921"} xref: SCTID:238051008 {source="MONDO:equivalentTo", source="DOID:3659"} is_a: MONDO:0017736 {source="Orphanet:3166"} ! disorder of sialic acid metabolism is_a: MONDO:0019366 ! free sialic acid storage disease property_value: closeMatch http://identifiers.org/meddra/10067529 property_value: exactMatch DOID:3659 property_value: exactMatch http://identifiers.org/snomedct/238051008 property_value: exactMatch https://omim.org/entry/269921 property_value: exactMatch Orphanet:3166 [Term] id: MONDO:0010029 name: situs inversus def: "A congenital condition in which there is complete right-to-left reversal of the position of the major thoracic and abdominal organs (that is, they are arranged in a mirror image of the normal positioning)." [NCIT:P378] subset: ordo_morphological_anomaly {source="Orphanet:101063"} synonym: "complete situs inversus" EXACT [Orphanet:101063] synonym: "complete situs inversus viscerum" EXACT [Orphanet:101063] synonym: "complete transposition (morphologic abnormality)" EXACT [DOID:758] synonym: "laterality sequence" EXACT [DOID:758] synonym: "situs ambiguus" RELATED [NCIT:C87121] synonym: "situs inversus" EXACT [Orphanet:101063] synonym: "situs inversus totalis" EXACT [MONDO:ambiguous] synonym: "situs inversus totalis (disease)" EXACT [MONDO:0015098] xref: DOID:758 {source="MONDO:equivalentTo"} xref: HP:0001696 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q89.3 {source="DOID:758", source="MONDO:equivalentTo", source="Orphanet:101063/ntbt", source="Orphanet:101063/inclusion", source="Orphanet:101063"} xref: ICD9:759.3 {source="DOID:758"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D012857 {source="DOID:758", source="MONDO:equivalentTo"} xref: NCIT:C87121 {source="DOID:758", source="MONDO:equivalentTo"} xref: Orphanet:101063 {source="MONDO:equivalentTo"} xref: SCTID:24614000 {source="MONDO:equivalentTo"} is_a: MONDO:0018677 {source="DC-OMIM:270100", source="DOID:758", source="OMIM:270100", source="Orphanet:101063"} ! visceral heterotaxy property_value: exactMatch DOID:758 property_value: exactMatch http://identifiers.org/mesh/D012857 property_value: exactMatch http://identifiers.org/snomedct/24614000 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q89.3 property_value: exactMatch NCIT:C87121 property_value: exactMatch Orphanet:101063 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2826 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010031 name: Sjogren-Larsson syndrome def: "A neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity." [Orphanet:816] subset: gard_rare {source="GARD:0007654"} subset: ordo_disease {source="Orphanet:816"} synonym: "FADH deficiency" RELATED [GARD:0007654] synonym: "FALDH deficiency" RELATED [OMIM:270200] synonym: "FAO deficiency" RELATED [GARD:0007654] synonym: "fatty acid alcohol oxidoreductase deficiency" EXACT [Orphanet:816] synonym: "fatty alcohol:NAD+ oxidoreductase deficiency" RELATED [OMIM:270200] synonym: "fatty aldehyde dehydrogenase deficiency" RELATED [OMIM:270200] synonym: "ichthyosis, spastic neurologic disorder, and oligophrenia" RELATED [OMIM:270200] synonym: "Sjogren Larsson syndrome" EXACT [DOID:14501] synonym: "Sjogren-Larsson syndrome" EXACT [MONDO:Lexical, OMIM:270200] synonym: "Sjogren-Larsson's syndrome" EXACT [DOID:14501] synonym: "Sjögren-Larsson syndrome" RELATED [GARD:0007654] synonym: "SLS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:270200] xref: DOID:14501 {source="MONDO:equivalentTo"} xref: EFO:0007031 {source="MONDO:equivalentTo"} xref: MedDRA:10048676 {source="Orphanet:816", source="Orphanet:816/e"} xref: MESH:D016111 {source="MONDO:equivalentTo", source="Orphanet:816", source="Orphanet:816/e", source="DOID:14501"} xref: NCIT:C85070 {source="MONDO:equivalentTo", source="DOID:14501"} xref: OMIM:270200 {source="MONDO:equivalentTo", source="Orphanet:816", source="Orphanet:816/e", source="DOID:14501"} xref: Orphanet:816 {source="MONDO:equivalentTo", source="OMIM:270200"} xref: SCTID:111303009 {source="MONDO:equivalentTo", source="DOID:14501"} xref: UMLS:C0037231 {source="NCIT:C85070", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:816", source="Orphanet:816/e", source="DOID:14501", source="OMIM:270200"} is_a: EFO:1000017 {source="DOID:14501", source="MONDO:indirect"} ! autosomal recessive disease is_a: MONDO:0004884 ! eye degenerative disorder is_a: MONDO:0015905 ! syndromic dyslipidemia is_a: MONDO:0017270 ! autosomal ichthyosis syndrome is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis is_a: MONDO:0019046 {source="https://rarediseases.org/rare-diseases/leukodystrophy/"} ! leukodystrophy property_value: closeMatch http://identifiers.org/meddra/10048676 property_value: exactMatch DOID:14501 property_value: exactMatch http://identifiers.org/mesh/D016111 property_value: exactMatch http://identifiers.org/snomedct/111303009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037231 property_value: exactMatch https://omim.org/entry/270200 property_value: exactMatch NCIT:C85070 property_value: exactMatch Orphanet:816 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7654/sjogren-larsson-syndrome xsd:anyURI {source="GARD:0007654"} [Term] id: MONDO:0010033 name: generalized peeling skin syndrome def: "Generalized peeling skin syndrome (PSS) is a form of PSS presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy." [Orphanet:263543] subset: ordo_disease {source="Orphanet:263543"} synonym: "generalised deciduous skin" EXACT OMO:0003005 [] synonym: "generalised PSS" EXACT OMO:0003005 [] synonym: "generalized deciduous skin" EXACT [Orphanet:263543] synonym: "generalized PSS" EXACT [Orphanet:263543] synonym: "peeling skin syndrome 1" RELATED [MONDO:Lexical, OMIM:270300] synonym: "peeling skin syndrome type 1" EXACT [MONDORULE:1, OMIM:270300] synonym: "PSS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:270300] xref: Orphanet:263543 {source="MONDO:equivalentTo", source="OMIM:270300"} xref: SCTID:718749004 {source="MONDO:equivalentTo"} xref: UMLS:C4305156 {source="MONDO:equivalentTo"} xref: UMLS:CN202304 {source="MONDO:equivalentTo"} is_a: MONDO:0019347 {source="DC-OMIM:270300", source="OMIM:270300", source="Orphanet:263543"} ! peeling skin syndrome property_value: exactMatch http://identifiers.org/snomedct/718749004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305156 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202304 property_value: exactMatch Orphanet:263543 [Term] id: MONDO:0010035 name: Smith-Lemli-Opitz syndrome def: "Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems." [Orphanet:818] subset: gard_rare {source="GARD:0005683"} subset: ordo_malformation_syndrome {source="Orphanet:818"} synonym: "7-dehydrocholesterol reductase deficiency" EXACT [Orphanet:818] synonym: "lethal acrodysgenital syndrome" RELATED [OMIM:270400] synonym: "polydactyly, sex reversal, renal hypoplasia, and unilobar lung" RELATED [OMIM:270400] synonym: "polydactyly, sex reversal, renal hypoplasia, and unilobular lung" RELATED [GARD:0005683] synonym: "RSH syndrome" EXACT [OMIM:270400, Orphanet:818] synonym: "Rutledge lethal multiple congenital anomaly syndrome" EXACT [DOID:14692, OMIM:270400] synonym: "SLO syndrome" EXACT [OMIM:270400] synonym: "SLOS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:270400, Orphanet:818] synonym: "Smith Lemli Opitz syndrome" RELATED [GARD:0005683] synonym: "Smith-Lemli-Opitz syndrome" EXACT [MONDO:Lexical, OMIM:270400] synonym: "Smith-Opitz-inborn syndrome" EXACT [DOID:14692] xref: DOID:14692 {source="MONDO:equivalentTo"} xref: ICD10CM:E78.72 {source="DOID:14692", source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D019082 {source="Orphanet:818/e", source="DOID:14692", source="MONDO:equivalentTo", source="Orphanet:818"} xref: NCIT:C85071 {source="DOID:14692", source="MONDO:equivalentTo"} xref: OMIM:270400 {source="Orphanet:818/e", source="DOID:14692", source="MONDO:equivalentTo", source="Orphanet:818"} xref: Orphanet:818 {source="OMIM:270400", source="MONDO:equivalentTo"} xref: SCTID:43929004 {source="DOID:14692", source="MONDO:equivalentTo"} xref: UMLS:C0175694 {source="Orphanet:818/e", source="OMIM:270400", source="NCIT:C85071", source="DOID:14692", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:818"} is_a: MONDO:0015159 {source="Orphanet:818"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015905 ! syndromic dyslipidemia is_a: MONDO:0020158 {source="MONDO:0020169-obsoleted"} ! eyelids malposition disorder is_a: MONDO:0020165 {source="Orphanet:818"} ! syndromic epicanthus is_a: MONDO:0045017 ! cholesterol biosynthetic process disease property_value: exactMatch DOID:14692 property_value: exactMatch http://identifiers.org/mesh/D019082 property_value: exactMatch http://identifiers.org/snomedct/43929004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0175694 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E78.72 property_value: exactMatch https://omim.org/entry/270400 property_value: exactMatch NCIT:C85071 property_value: exactMatch Orphanet:818 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5683/smith-lemli-opitz-syndrome xsd:anyURI {source="GARD:0005683"} [Term] id: MONDO:0010038 name: growth delay due to insulin-like growth factor I resistance def: "Growth delay due to IGF-I resistance is characterized by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum)." [Orphanet:73273] subset: gard_rare subset: ordo_disease {source="Orphanet:73273"} synonym: "growth delay due to insulin-like growth factor I resistance" EXACT [] synonym: "IGF-1 resistance" RELATED [GARD:0010609] synonym: "IGF-I resistance" RELATED [OMIM:270450] synonym: "IGF1RES" RELATED ABBREVIATION [OMIM:270450] synonym: "insulin-like growth factor 1 resistance to" RELATED [GARD:0010609] synonym: "insulin-like growth factor I, resistance to" RELATED [OMIM:270450] synonym: "insulin-like Growth Factor I, resistance to, due to increased binding Protein" RELATED [OMIM:270450] synonym: "resistance to IGF-1" EXACT [Orphanet:73273] synonym: "Somatomedin end-organ insensitivity to" RELATED [GARD:0010609] synonym: "Somatomedin, end-organ insensitivity to" RELATED [OMIM:270450] synonym: "Somatomedin-c resistance to" RELATED [GARD:0010609] synonym: "Somatomedin-C, resistance to" RELATED [OMIM:270450] xref: MESH:C564816 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: OMIM:270450 {source="GARD:0010609", source="Orphanet:73273/e", source="MONDO:equivalentTo", source="Orphanet:73273"} xref: Orphanet:73273 {source="GARD:0010609", source="MONDO:equivalentTo", source="OMIM:270450"} xref: SCTID:715625007 {source="MONDO:equivalentTo"} xref: UMLS:C1849157 {source="GARD:0010609", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:270450", source="Orphanet:73273"} is_a: MONDO:0015892 {source="Orphanet:73273"} ! growth hormone insensitivity syndrome property_value: exactMatch http://identifiers.org/mesh/C564816 property_value: exactMatch http://identifiers.org/snomedct/715625007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849157 property_value: exactMatch https://omim.org/entry/270450 property_value: exactMatch Orphanet:73273 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10609/insulin-like-growth-factor-1-resistance-to xsd:anyURI {source="GARD:0010609"} [Term] id: MONDO:0010039 name: congenital heart defect-round face-developmental delay syndrome def: "Heart defect B round face B congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit." [Orphanet:1355] subset: ordo_malformation_syndrome {source="Orphanet:1355"} synonym: "round face with depressed nasal Bridge and small mouth, congenital heart defect, and retarded development" RELATED [OMIM:270460] synonym: "Sonoda syndrome" EXACT [OMIM:270460, Orphanet:1355] xref: MESH:C536680 {source="MONDO:equivalentTo"} xref: OMIM:270460 {source="Orphanet:1355", source="MONDO:equivalentTo", source="Orphanet:1355/e"} xref: Orphanet:1355 {source="MONDO:equivalentTo", source="OMIM:270460"} xref: SCTID:715987000 {source="MONDO:equivalentTo"} xref: UMLS:C0796162 {source="Orphanet:1355", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:270460", source="Orphanet:1355/e"} is_a: MONDO:0015159 {source="Orphanet:1355"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C536680 property_value: exactMatch http://identifiers.org/snomedct/715987000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796162 property_value: exactMatch https://omim.org/entry/270460 property_value: exactMatch Orphanet:1355 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1355"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010041 name: Charlevoix-Saguenay spastic ataxia def: "Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy." [Orphanet:98] subset: ordo_disease {source="Orphanet:98"} synonym: "ARSACS" EXACT ABBREVIATION [Orphanet:98] synonym: "autosomal recessive spastic ataxia of Charlevoix-Saguenay" RELATED [OMIM:270550] synonym: "autosomal recessive spastic ataxia type 6" EXACT [Orphanet:98] synonym: "Charlevoix-Saguenay spastic ataxia" EXACT [OMIM:270550] synonym: "sacs" RELATED [MONDO:Lexical, OMIM:270550] synonym: "spastic ataxia 6, autosomal recessive" RELATED [OMIM:270550] synonym: "spastic ataxia Charlevoix-Saguenay type" RELATED [GARD:0004910] synonym: "spastic ataxia of Charlevoix-Saguenay" RELATED [GARD:0004910] synonym: "spastic ataxia, Charlevoix-Saguenay type" RELATED [MONDO:Lexical, OMIM:270550] synonym: "SPAX6" EXACT ABBREVIATION [Orphanet:98] xref: DOID:0050946 {source="MONDO:equivalentTo"} xref: MESH:C536787 {source="Orphanet:98", source="MONDO:equivalentTo", source="Orphanet:98/e"} xref: OMIM:270550 {source="Orphanet:98", source="MONDO:equivalentTo", source="Orphanet:98/e", source="DOID:0050946"} xref: Orphanet:98 {source="MONDO:equivalentTo", source="OMIM:270550"} xref: SCTID:702445005 {source="MONDO:equivalentTo"} xref: UMLS:C1849140 {source="Orphanet:98", source="MONDO:equivalentTo", source="Orphanet:98/e", source="MONDO:ncbi_mim2gene_medline", source="OMIM:270550"} is_a: MONDO:0015244 {source="DOID:0050946", source="MONDO:indirect"} ! autosomal recessive cerebellar ataxia is_a: MONDO:0017847 {source="MONDO:Redundant", source="Orphanet:98"} ! autosomal recessive spastic ataxia property_value: exactMatch DOID:0050946 property_value: exactMatch http://identifiers.org/mesh/C536787 property_value: exactMatch http://identifiers.org/snomedct/702445005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849140 property_value: exactMatch https://omim.org/entry/270550 property_value: exactMatch Orphanet:98 [Term] id: MONDO:0010043 name: hereditary spastic paraplegia 17 def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the BSCL2 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:100998"} synonym: "autosomal dominant spastic paraplegia 17" EXACT [DOID:0110770] synonym: "autosomal dominant spastic paraplegia type 17" EXACT [DOID:0110770] synonym: "BSCL2 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "dHMN5B" EXACT [DOID:0110770] synonym: "distal hereditary motor neuropathy type 5B" EXACT [DOID:0110770] synonym: "hereditary spastic paraplegia caused by mutation in BSCL2" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 17" EXACT [DOID:0110770, MONDORULE:2] synonym: "Silver spastic paraplegia syndrome" EXACT [DOID:0110770] synonym: "Silver syndrome" EXACT [DOID:0110770, Orphanet:100998] synonym: "spastic paraplegia 17" RELATED [GARD:0004219] synonym: "spastic paraplegia 17, autosomal dominant" RELATED [MONDO:Lexical, OMIM:270685] synonym: "spastic paraplegia with amyotrophy of hands and feet" EXACT [DOID:0110770, OMIM:270685] synonym: "spastic paraplegia-amyotrophy of hands and feet" EXACT [DOID:0110770, Orphanet:100998] synonym: "SPG17" EXACT ABBREVIATION [DOID:0110770, MONDO:Lexical, OMIM:270685, Orphanet:100998] xref: DOID:0110770 {source="MONDO:equivalentTo"} xref: MESH:C536644 {source="MONDO:equivalentTo"} xref: OMIM:270685 {source="MONDO:equivalentTo", source="Orphanet:100998", source="DOID:0110770", source="Orphanet:100998/e"} xref: Orphanet:100998 {source="MONDO:equivalentTo", source="DOID:0110770", source="OMIM:270685"} xref: UMLS:C2931276 {source="MONDO:equivalentTo", source="Orphanet:100998", source="OMIM:270685"} xref: UMLS:CN074197 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015087 {source="Orphanet:100998"} ! autosomal dominant complex spastic paraplegia is_a: MONDO:0015362 {source="Orphanet:100998"} ! autosomal dominant distal hereditary motor neuropathy property_value: exactMatch DOID:0110770 property_value: exactMatch http://identifiers.org/mesh/C536644 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931276 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN074197 property_value: exactMatch https://omim.org/entry/270685 property_value: exactMatch Orphanet:100998 [Term] id: MONDO:0010044 name: hereditary spastic paraplegia 15 def: "Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding." [Orphanet:100996] subset: ordo_disease {source="Orphanet:100996"} synonym: "autosomal recessive complex spastic paraplegia caused by mutation in ZFYVE26" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 15" EXACT [DOID:0110768] synonym: "autosomal recessive spastic paraplegia type 15" EXACT [DOID:0110768] synonym: "hereditary spastic paraparesis type 15" EXACT [DOID:0110768, Orphanet:100996] synonym: "hereditary spastic paraplegia 15" EXACT [] synonym: "hereditary spastic paraplegia type 15" EXACT [DOID:0110768, MONDORULE:2] synonym: "Kjellin syndrome" EXACT [DOID:0110768, OMIM:270700, Orphanet:100996] synonym: "recessive spastic paraplegia with retinal degeneration" RELATED [GARD:0009581] synonym: "spastic paraplegia 15" RELATED [GARD:0009581] synonym: "spastic paraplegia 15, autosomal recessive" RELATED [MONDO:Lexical, OMIM:270700] synonym: "spastic paraplegia and retinal Degeneration" RELATED [OMIM:270700] synonym: "spastic paraplegia and retinal degeneration" EXACT [DOID:0110768] synonym: "spastic paraplegia-retinal degeneration syndrome" EXACT [DOID:0110768, Orphanet:100996] synonym: "SPG15" EXACT ABBREVIATION [DOID:0110768, MONDO:Lexical, OMIM:270700, Orphanet:100996] synonym: "ZFYVE26 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110768 {source="MONDO:equivalentTo"} xref: MESH:C536642 {source="MONDO:equivalentTo", source="Orphanet:100996", source="Orphanet:100996/e"} xref: OMIM:270700 {source="DOID:0110768", source="MONDO:equivalentTo", source="Orphanet:100996", source="Orphanet:100996/e"} xref: Orphanet:100996 {source="OMIM:270700", source="DOID:0110768", source="MONDO:equivalentTo"} xref: SCTID:709417000 {source="MONDO:equivalentTo"} xref: UMLS:C1849128 {source="OMIM:270700", source="MONDO:equivalentTo", source="Orphanet:100996", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:100996/e"} is_a: MONDO:0015089 {source="MONDO:Redundant", source="Orphanet:100996"} ! autosomal recessive complex spastic paraplegia property_value: exactMatch DOID:0110768 property_value: exactMatch http://identifiers.org/mesh/C536642 property_value: exactMatch http://identifiers.org/snomedct/709417000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849128 property_value: exactMatch https://omim.org/entry/270700 property_value: exactMatch Orphanet:100996 [Term] id: MONDO:0010046 name: hereditary spastic paraplegia 23 def: "Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32." [Orphanet:101003] subset: ordo_disease {source="Orphanet:101003"} synonym: "autosomal recessive complex spastic paraplegia caused by mutation in DSTYK" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia type 23" RELATED [Orphanet:101003] synonym: "DSTYK autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary spastic paraplegia type 23" EXACT [DOID:0110774, MONDORULE:2] synonym: "Lison syndrome" EXACT [DOID:0110774, Orphanet:101003] synonym: "spastic paraparesis, vitiligo, premature graying, characteristic facies" RELATED [OMIM:270750] synonym: "spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome" EXACT [DOID:0110774, Orphanet:101003] synonym: "spastic paraplegia 23" EXACT [DOID:0110774, MONDO:Lexical, OMIM:270750] synonym: "spastic paraplegia and pigmentary abnormalities" RELATED [GARD:0000336] synonym: "spastic paraplegia vitiligo premature graying and characteristic facies" RELATED [GARD:0000336] synonym: "spastic paraplegia vitiligo premature greying and characteristic facies" RELATED OMO:0003005 [] synonym: "spastic paraplegia with pigmentary abnormalities" EXACT [DOID:0110774, OMIM:270750] synonym: "SPG 23" RELATED [GARD:0000336] synonym: "SPG23" EXACT ABBREVIATION [DOID:0110774, MONDO:Lexical, OMIM:270750, Orphanet:101003] xref: DOID:0110774 {source="MONDO:equivalentTo"} xref: MESH:C536859 {source="MONDO:equivalentTo"} xref: OMIM:270750 {source="Orphanet:101003", source="MONDO:equivalentTo", source="Orphanet:101003/e", source="DOID:0110774"} xref: Orphanet:101003 {source="MONDO:equivalentTo", source="DOID:0110774", source="OMIM:270750"} xref: SCTID:726608002 {source="MONDO:equivalentTo"} xref: UMLS:C0796019 {source="Orphanet:101003", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:270750"} is_a: MONDO:0015089 {source="MONDO:Redundant", source="Orphanet:101003"} ! autosomal recessive complex spastic paraplegia property_value: exactMatch DOID:0110774 property_value: exactMatch http://identifiers.org/mesh/C536859 property_value: exactMatch http://identifiers.org/snomedct/726608002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796019 property_value: exactMatch https://omim.org/entry/270750 property_value: exactMatch Orphanet:101003 [Term] id: MONDO:0010047 name: hereditary spastic paraplegia 5A def: "Autosomal recessive spastic paraplegia type 5A (SPG5A) is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients." [Orphanet:100986] comment: OMIM obsoleted 600146 and moved it to 270800 so I merged these - smb. {source="OMIM:270800"} subset: ordo_disease {source="Orphanet:100986"} synonym: "autosomal recessive spastic paraplegia" RELATED [GARD:0004926] synonym: "autosomal recessive spastic paraplegia 5A" EXACT [DOID:0110810] synonym: "autosomal recessive spastic paraplegia type 5A" EXACT [DOID:0110810] synonym: "CYP7B1 pure or complex autosomal recessive spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary spastic paraplegia type 5A" EXACT [DOID:0110810, MONDORULE:4] synonym: "pure or complex autosomal recessive spastic paraplegia caused by mutation in CYP7B1" EXACT [MONDO:design_pattern] synonym: "spastic paraplegia 5A" RELATED [GARD:0004926] synonym: "spastic paraplegia 5A, autosomal recessive" RELATED [MONDO:Lexical, OMIM:270800] synonym: "spastic paraplegia type 5A" RELATED [GARD:0004926] synonym: "spastic paraplegia type 5B, recessive" EXACT [OMIM:270800] synonym: "SPG5A" EXACT ABBREVIATION [DOID:0110810, MONDO:Lexical, OMIM:270800, Orphanet:100986] xref: DOID:0110810 {source="MONDO:equivalentTo"} xref: OMIM:270800 {source="DOID:0110810", source="MONDO:equivalentTo", source="Orphanet:100986", source="Orphanet:100986/e"} xref: Orphanet:100986 {source="DOID:0110810", source="OMIM:270800", source="MONDO:equivalentTo"} xref: SCTID:763373005 {source="MONDO:equivalentTo"} xref: UMLS:C1849115 {source="OMIM:270800", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:100986"} xref: UMLS:C2931357 {source="MONDO:equivalentTo"} is_a: MONDO:0017915 {source="MONDO:Redundant", source="Orphanet:100986"} ! pure or complex autosomal recessive spastic paraplegia property_value: exactMatch DOID:0110810 property_value: exactMatch http://identifiers.org/snomedct/763373005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849115 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931357 property_value: exactMatch https://omim.org/entry/270800 property_value: exactMatch Orphanet:100986 [Term] id: MONDO:0010049 name: spastic paraplegia-glaucoma-intellectual disability syndrome def: "Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive." [Orphanet:2818] subset: ordo_disease {source="Orphanet:2818"} synonym: "spastic paresis glaucoma intellectual disability" RELATED [GARD:0004931] synonym: "spastic paresis glaucoma mental retardation" RELATED DEPRECATED [GARD:0004931] synonym: "spastic paresis, glaucoma, and intellectual disability" RELATED [OMIM:270850] synonym: "spastic paresis, glaucoma, and mental retardation" RELATED DEPRECATED [OMIM:270850] xref: MESH:C564809 {source="MONDO:equivalentTo"} xref: OMIM:270850 {source="Orphanet:2818/e", source="MONDO:equivalentTo", source="Orphanet:2818"} xref: Orphanet:2818 {source="MONDO:equivalentTo", source="OMIM:270850"} xref: UMLS:C1849113 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:270850", source="Orphanet:2818"} is_a: MONDO:0015089 {source="Orphanet:2818"} ! autosomal recessive complex spastic paraplegia relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: exactMatch http://identifiers.org/mesh/C564809 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849113 property_value: exactMatch https://omim.org/entry/270850 property_value: exactMatch Orphanet:2818 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:2818"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010051 name: spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome def: "Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome is characterized by nonprogressive spastic paraplegia, retinitis pigmentosa, and intellectual deficit. It has been described in two brothers born to consanguineous parents." [Orphanet:3011] subset: ordo_disease {source="Orphanet:3011"} synonym: "progressive quadriparesis, intellectual disability, retinitis pigmentosa and hearing loss" RELATED [GARD:0004932] synonym: "progressive quadriparesis, mental retardation, retinitis pigmentosa and hearing loss" RELATED DEPRECATED [GARD:0004932] synonym: "spastic quadriplegia retinitis pigmentosa intellectual disability" RELATED [GARD:0004932] synonym: "spastic quadriplegia retinitis pigmentosa mental retardation" RELATED DEPRECATED [GARD:0004932] synonym: "spastic quadriplegia, retinitis pigmentosa, and intellectual disability" RELATED [OMIM:270950] synonym: "spastic quadriplegia, retinitis pigmentosa, and mental retardation" RELATED DEPRECATED [OMIM:270950] synonym: "spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome" EXACT [Orphanet:3011] xref: MESH:C564808 {source="MONDO:equivalentTo"} xref: OMIM:270950 {source="Orphanet:3011/e", source="MONDO:equivalentTo", source="Orphanet:3011"} xref: Orphanet:3011 {source="OMIM:270950", source="MONDO:equivalentTo"} xref: UMLS:C1849112 {source="OMIM:270950", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3011"} is_a: MONDO:0020240 {source="Orphanet:3011"} ! syndromic retinitis pigmentosa property_value: exactMatch http://identifiers.org/mesh/C564808 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849112 property_value: exactMatch https://omim.org/entry/270950 property_value: exactMatch Orphanet:3011 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:3011"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010056 name: spinal muscular atrophy, type IV def: "Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." [Orphanet:83420] subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:83420"} synonym: "adult spinal muscular atrophy" EXACT [DOID:0050529] synonym: "adult-onset spinal muscular atrophy" RELATED [GARD:0000564] synonym: "proximal spinal muscular atrophy type 4" RELATED [Orphanet:83420] synonym: "SMA 4" RELATED [GARD:0000564] synonym: "SMA type 4" EXACT [Orphanet:83420] synonym: "SMA type IV" EXACT [Orphanet:83420] synonym: "SMA-IV" EXACT [Orphanet:83420] synonym: "SMA4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:271150, Orphanet:83420] synonym: "spinal muscular atrophy 4" RELATED [GARD:0000564] synonym: "spinal muscular atrophy of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] synonym: "spinal muscular atrophy type 4" RELATED [GARD:0000564] synonym: "spinal muscular atrophy, adult form" EXACT [DOID:0050529, GARD:0000564, OMIM:271150, Orphanet:83420] synonym: "spinal muscular atrophy, proximal, adult, autosomal recessive" RELATED [GARD:0000564, OMIM:271150] synonym: "spinal muscular atrophy, type 4" RELATED [OMIM:271150] synonym: "spinal muscular atrophy, type IV" EXACT [DOID:0050529, MONDO:Lexical, OMIM:271150] synonym: "spinal muscular atrophy-4" EXACT [OMIM:271150, OMIM:genemap2] xref: DOID:0050529 {source="MONDO:equivalentTo"} xref: ICD9:335.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563948 {source="MONDO:equivalentTo"} xref: OMIM:271150 {source="Orphanet:83420", source="MONDO:equivalentTo", source="Orphanet:83420/e", source="DOID:0050529"} xref: Orphanet:83420 {source="MONDO:equivalentTo", source="OMIM:271150"} xref: SCTID:85505000 {source="MONDO:equivalentTo"} is_a: MONDO:0019079 {source="Orphanet:83420"} ! proximal spinal muscular atrophy property_value: exactMatch DOID:0050529 property_value: exactMatch http://identifiers.org/mesh/C563948 property_value: exactMatch http://identifiers.org/snomedct/85505000 property_value: exactMatch https://omim.org/entry/271150 property_value: exactMatch Orphanet:83420 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010060 name: mitochondrial DNA depletion syndrome 7 (hepatocerebral type) def: "Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." [Orphanet:1186] subset: ordo_disease {source="Orphanet:1186"} synonym: "autosomal recessive degenerative and progressive cerebellar ataxia caused by mutation in TWNK" EXACT [] synonym: "infantile onset spinocerebellar ataxia" EXACT [OMIM:271245] synonym: "IOSCA" EXACT ABBREVIATION [Orphanet:1186] synonym: "mitochondrial DNA depletion syndrome 7" RELATED [DOID:0080126] synonym: "mitochondrial DNA depletion syndrome 7 (hepatocerebral type)" EXACT [MONDO:Lexical, OMIM:271245] synonym: "mitochondrial DNA depletion syndrome type 7" EXACT [DOID:0080126, MONDORULE:1] synonym: "MTDPS7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:271245] synonym: "OHAHA syndrome" EXACT [DOID:0050556] synonym: "Ohaha syndrome" EXACT [OMIM:271245, Orphanet:1186] synonym: "ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis" RELATED [GARD:0004062] synonym: "ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis" RELATED [GARD:0004062] synonym: "ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis" RELATED [OMIM:271245] synonym: "ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome" EXACT [Orphanet:1186] synonym: "SCA8 (formerly)" RELATED [GARD:0004062] synonym: "spinocerebellar ataxia 8" RELATED [OMIM:271245] synonym: "spinocerebellar ataxia 8 (formerly)" RELATED [GARD:0004062] synonym: "spinocerebellar ataxia 8, formerly" RELATED [OMIM:271245] synonym: "spinocerebellar ataxia infantile with sensory neuropathy" RELATED [GARD:0004062] synonym: "spinocerebellar ataxia, infantile, with sensory neuropathy" RELATED [OMIM:271245] synonym: "spinocerebellar ataxia, infantile-onset" RELATED [OMIM:271245] synonym: "TWNK autosomal recessive degenerative and progressive cerebellar ataxia" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0050556 {source="MONDO:equivalentObsolete"} xref: DOID:0080126 {source="MONDO:equivalentTo"} xref: MESH:C535523 {source="Orphanet:1186", source="MONDO:equivalentTo", source="Orphanet:1186/e"} xref: OMIM:271245 {source="Orphanet:1186", source="MONDO:equivalentTo", source="DOID:0050556", source="Orphanet:1186/e"} xref: Orphanet:1186 {source="MONDO:equivalentTo", source="OMIM:271245"} xref: SCTID:724227000 {source="MONDO:equivalentTo"} xref: UMLS:C1849096 {source="Orphanet:1186", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1186/e", source="OMIM:271245"} is_a: MONDO:0020046 {source="Orphanet:1186"} ! autosomal recessive degenerative and progressive cerebellar ataxia is_a: MONDO:0100512 {source="Orphanet:1186", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial DNA depletion syndrome, hepatocerebral form property_value: exactMatch DOID:0080126 property_value: exactMatch http://identifiers.org/mesh/C535523 property_value: exactMatch http://identifiers.org/snomedct/724227000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849096 property_value: exactMatch https://omim.org/entry/271245 property_value: exactMatch Orphanet:1186 [Term] id: MONDO:0010061 name: autosomal recessive cerebellar ataxia-blindness-deafness syndrome subset: ordo_disease {source="Orphanet:95433"} synonym: "autosomal recessive cerebellar ataxia - blindness - deafness" RELATED [GARD:0009971] synonym: "autosomal recessive spinocerebellar ataxia type 3" EXACT [Orphanet:95433] synonym: "autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome" RELATED [Orphanet:95433] synonym: "autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome" EXACT [Orphanet:95433] synonym: "SCABD" EXACT ABBREVIATION [Orphanet:95433] synonym: "SCAR3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:271250, Orphanet:95433] synonym: "spinocerebellar ataxia autosomal recessive 3" RELATED [GARD:0009971] synonym: "spinocerebellar ataxia with blindness and deafness" RELATED [OMIM:271250] synonym: "spinocerebellar ataxia, autosomal recessive 3" RELATED [MONDO:Lexical, OMIM:271250] xref: DOID:0111612 {source="MONDO:equivalentTo"} xref: MESH:C537309 {source="MONDO:equivalentTo"} xref: OMIM:271250 {source="Orphanet:95433", source="MONDO:equivalentTo", source="Orphanet:95433/e"} xref: Orphanet:95433 {source="MONDO:equivalentTo", source="OMIM:271250"} xref: UMLS:C1849094 {source="Orphanet:95433", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:271250"} is_a: MONDO:0020047 {source="Orphanet:95433"} ! autosomal recessive syndromic cerebellar ataxia property_value: exactMatch DOID:0111612 property_value: exactMatch http://identifiers.org/mesh/C537309 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849094 property_value: exactMatch https://omim.org/entry/271250 property_value: exactMatch Orphanet:95433 [Term] id: MONDO:0010062 name: spinocerebellar ataxia-dysmorphism syndrome def: "Spinocerebellar ataxia-dysmorphism is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive." [Orphanet:1185] subset: ordo_disease {source="Orphanet:1185"} synonym: "spinocerebellar ataxia with dysmorphism" RELATED [OMIM:271270] xref: MESH:C564802 {source="MONDO:equivalentTo"} xref: OMIM:271270 {source="Orphanet:1185/e", source="MONDO:equivalentTo", source="Orphanet:1185"} xref: Orphanet:1185 {source="MONDO:equivalentTo", source="OMIM:271270"} xref: UMLS:C1849088 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:271270", source="Orphanet:1185"} is_a: EFO:0009671 {source="Orphanet:1185"} ! hereditary ataxia property_value: exactMatch http://identifiers.org/mesh/C564802 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849088 property_value: exactMatch https://omim.org/entry/271270 property_value: exactMatch Orphanet:1185 [Term] id: MONDO:0010063 name: corneal-cerebellar syndrome def: "A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985." [Orphanet:3177] subset: ordo_malformation_syndrome {source="Orphanet:3177"} synonym: "corneal cerebellar syndrome" RELATED [GARD:0001525] synonym: "corneal dystrophy with spinocerebellar Degeneration" RELATED [OMIM:271310] synonym: "corneal-cerebellar syndrome" EXACT [OMIM:271310] synonym: "Der Kaloustian Jarudi Khoury syndrome" RELATED [GARD:0001525] synonym: "Der Kaloustian-Jarudi-Khoury syndrome" EXACT [Orphanet:3177] synonym: "spinocerebellar degeneration and corneal dystrophy" RELATED [OMIM:271310] synonym: "spinocerebellar degeneration corneal dystrophy" RELATED [GARD:0001525] synonym: "spinocerebellar degeneration-corneal dystrophy syndrome" EXACT [Orphanet:3177] xref: MESH:C535472 {source="Orphanet:3177", source="MONDO:equivalentTo", source="Orphanet:3177/e"} xref: OMIM:271310 {source="Orphanet:3177", source="MONDO:equivalentTo", source="Orphanet:3177/e"} xref: Orphanet:3177 {source="MONDO:equivalentTo", source="OMIM:271310"} xref: SCTID:720750004 {source="MONDO:equivalentTo"} xref: UMLS:C1849087 {source="Orphanet:3177", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3177/e", source="OMIM:271310"} is_a: MONDO:0004884 ! eye degenerative disorder is_a: MONDO:0020215 {source="Orphanet:3177"} ! syndromic corneal dystrophy property_value: exactMatch http://identifiers.org/mesh/C535472 property_value: exactMatch http://identifiers.org/snomedct/720750004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849087 property_value: exactMatch https://omim.org/entry/271310 property_value: exactMatch Orphanet:3177 property_value: excluded_subClassOf MONDO:0100309 {source="Orphanet:3177"} [Term] id: MONDO:0010064 name: spastic ataxia-corneal dystrophy syndrome def: "Mousa-AlDin-AlNassar syndrome is characterized by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia." [Orphanet:2572] subset: ordo_disease {source="Orphanet:2572"} synonym: "Bedouin spastic ataxia syndrome" EXACT [OMIM:271320, Orphanet:2572] synonym: "Mousa Al din Al Nassar syndrome" RELATED [GARD:0003795] synonym: "Mousa-Al Din-Al Nassar syndrome" EXACT [Orphanet:2572] synonym: "spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs" RELATED OMO:0003005 [] synonym: "spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted disks" RELATED [GARD:0003795] synonym: "spastic ataxia-ocular anomalies syndrome" EXACT [Orphanet:2572] synonym: "spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia" RELATED [OMIM:271320] xref: MESH:C536989 {source="MONDO:equivalentTo"} xref: OMIM:271320 {source="Orphanet:2572", source="MONDO:equivalentTo", source="Orphanet:2572/e"} xref: Orphanet:2572 {source="MONDO:equivalentTo", source="OMIM:271320"} xref: SCTID:715465001 {source="MONDO:equivalentTo"} xref: UMLS:C1849085 {source="Orphanet:2572", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2572/e", source="OMIM:271320"} is_a: MONDO:0017847 {source="Orphanet:2572"} ! autosomal recessive spastic ataxia is_a: MONDO:0020215 {source="Orphanet:2572"} ! syndromic corneal dystrophy property_value: exactMatch http://identifiers.org/mesh/C536989 property_value: exactMatch http://identifiers.org/snomedct/715465001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849085 property_value: exactMatch https://omim.org/entry/271320 property_value: exactMatch Orphanet:2572 [Term] id: MONDO:0010066 name: familial isolated congenital asplenia def: "Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings." [Orphanet:101351] subset: ordo_morphological_anomaly {source="Orphanet:101351"} synonym: "asplenia, familial" RELATED [OMIM:271400] synonym: "asplenia, isolated congenital" RELATED [MONDO:Lexical, OMIM:271400] synonym: "hyposplenia, isolated congenital" RELATED [OMIM:271400] synonym: "ICAS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:271400] synonym: "splenic hypoplasia" RELATED [OMIM:271400] xref: MESH:C563028 {source="MONDO:equivalentTo"} xref: OMIM:271400 {source="Orphanet:101351/e", source="MONDO:equivalentTo", source="Orphanet:101351"} xref: Orphanet:101351 {source="MONDO:equivalentTo", source="OMIM:271400"} xref: SCTID:726708009 {source="MONDO:equivalentTo"} is_a: MONDO:0015135 {source="MONDO:0018033-obsoleted"} ! primary immunodeficiency due to a genetic defect in innate immunity is_a: MONDO:0015213 {source="Orphanet:101351"} ! non-syndromic visceral malformation relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch http://identifiers.org/mesh/C563028 property_value: exactMatch http://identifiers.org/snomedct/726708009 property_value: exactMatch https://omim.org/entry/271400 property_value: exactMatch Orphanet:101351 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0010068 name: spondyloepimetaphyseal dysplasia, sponastrime type def: "A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation." [NCIT:P378] subset: gard_rare {source="GARD:0004970"} subset: ordo_disease {source="Orphanet:93357"} synonym: "short limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation" RELATED [GARD:0004970] synonym: "short-limb dwarfism with saddle Nose, spinal alterations, and metaphyseal striation" RELATED [OMIM:271510] synonym: "Sponastrime dysplasia" RELATED [OMIM:271510] synonym: "sponastrime dysplasia" EXACT [DOID:5684] synonym: "spondylar and nasal alterations with striated metaphyses" RELATED [OMIM:271510] synonym: "spondylar and nasal alterations-striated metaphyses syndrome" EXACT [DOID:5684, NCIT:C3034] synonym: "spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia" EXACT [Orphanet:93357] synonym: "spondylar and nasal changes with triations of the metaphyses (SPONASTRIME) dysplasia" EXACT [Orphanet:93357] synonym: "spondyloepimetaphyseal dysplasia Sponastrime type" RELATED [GARD:0004970] synonym: "spondyloepimetaphyseal dysplasia, Sponastrime type" EXACT [Orphanet:93357] synonym: "spondyloepimetaphyseal dysplasia, sponastrime type" EXACT [OMIM:271510] xref: DOID:5684 {source="MONDO:equivalentTo"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535786 {source="MONDO:equivalentTo"} xref: NCIT:C129031 {source="MONDO:equivalentTo"} xref: OMIM:271510 {source="DOID:5684", source="MONDO:equivalentTo", source="Orphanet:93357", source="Orphanet:93357/e"} xref: Orphanet:93357 {source="MONDO:equivalentTo", source="OMIM:271510"} xref: SCTID:389161008 {source="MONDO:equivalentTo"} is_a: MONDO:0100510 {source="PMID:31633310", source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia property_value: exactMatch DOID:5684 property_value: exactMatch http://identifiers.org/mesh/C535786 property_value: exactMatch http://identifiers.org/snomedct/389161008 property_value: exactMatch https://omim.org/entry/271510 property_value: exactMatch NCIT:C129031 property_value: exactMatch Orphanet:93357 property_value: excluded_subClassOf MONDO:0016761 {source="DC-OMIM:271510", source="DOID:5684", source="Orphanet:93357"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5280 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4970/spondyloepimetaphyseal-dysplasia-sponastrime-type xsd:anyURI {source="GARD:0004970"} [Term] id: MONDO:0010069 name: spondylocostal dysostosis-anal and genitourinary malformations syndrome def: "Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterized by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested." [Orphanet:94095] subset: ordo_malformation_syndrome {source="Orphanet:94095"} synonym: "Casamassima-Morton-Nance syndrome" EXACT [OMIM:271520, Orphanet:94095] synonym: "CMn syndrome" RELATED [OMIM:271520] synonym: "spondylocostal dysostosis with anal atresia and urogenital anomalies" RELATED [OMIM:271520] synonym: "spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome" RELATED [Orphanet:94095] xref: MESH:C564799 {source="MONDO:equivalentTo"} xref: OMIM:271520 {source="Orphanet:94095/e", source="MONDO:equivalentTo", source="Orphanet:94095"} xref: Orphanet:94095 {source="MONDO:equivalentObsolete", source="OMIM:271520"} xref: UMLS:C1849069 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:94095", source="OMIM:271520"} is_a: MONDO:0015246 {source="Orphanet:94095"} ! syndromic anorectal malformation is_a: MONDO:0015620 {source="Orphanet:94095"} ! syndromic urogenital tract malformation is_a: MONDO:0015846 {source="Orphanet:94095"} ! syndromic uterovaginal malformation is_a: MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin property_value: exactMatch http://identifiers.org/mesh/C564799 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849069 property_value: exactMatch https://omim.org/entry/271520 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:94095"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010070 name: brachyolmia type 1, Hobaek type synonym: "BCYM1A" EXACT ABBREVIATION [MONDO:Lexical, OMIM:271530] synonym: "brachyolmia type 1, Hobaek type" EXACT [MONDO:Lexical, OMIM:271530] synonym: "brachyolmia, recessive type of Hobaek" RELATED [OMIM:271530] synonym: "spondylodysplasia with Pure brachyolmia" RELATED [OMIM:271530] xref: MESH:C537099 {source="MONDO:equivalentTo"} xref: OMIM:271530 {source="MONDO:equivalentTo"} xref: Orphanet:93301 {source="MONDO:equivalentObsolete", source="OMIM:271530"} xref: UMLS:C1849055 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:271530"} is_a: MONDO:0018662 {source="Orphanet:448242/btnt"} ! autosomal recessive brachyolmia property_value: exactMatch http://identifiers.org/mesh/C537099 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849055 property_value: exactMatch https://omim.org/entry/271530 [Term] id: MONDO:0010073 name: spondyloepiphyseal dysplasia tarda, Kohn type def: "Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit." [Orphanet:163665] subset: ordo_disease {source="Orphanet:163665"} synonym: "Sedt with intellectual disability" RELATED [OMIM:271620] synonym: "Sedt with mental retardation" RELATED DEPRECATED [OMIM:271620] synonym: "spondyloepiphyseal dysplasia tarda with intellectual disability" RELATED [OMIM:271620] synonym: "spondyloepiphyseal dysplasia tarda with mental retardation" RELATED DEPRECATED [OMIM:271620] xref: DOID:0112292 {source="MONDO:equivalentTo"} xref: MESH:C564796 {source="MONDO:equivalentTo"} xref: OMIM:271620 {source="MONDO:equivalentTo", source="Orphanet:163665", source="Orphanet:163665/e"} xref: Orphanet:163665 {source="MONDO:equivalentTo", source="OMIM:271620"} xref: SCTID:719202006 {source="MONDO:equivalentTo"} xref: UMLS:C1849053 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:163665", source="OMIM:271620"} is_a: MONDO:0019667 {source="Orphanet:163665"} ! spondyloepiphyseal dysplasia tarda property_value: exactMatch DOID:0112292 property_value: exactMatch http://identifiers.org/mesh/C564796 property_value: exactMatch http://identifiers.org/snomedct/719202006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849053 property_value: exactMatch https://omim.org/entry/271620 property_value: exactMatch Orphanet:163665 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:163665"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010074 name: brachyolmia type 1, toledo type synonym: "BCYM1B" EXACT ABBREVIATION [MONDO:Lexical, OMIM:271630] synonym: "brachyolmia type 1, Toledo type" RELATED [MONDO:Lexical, OMIM:271630] synonym: "PAPS-chondroitin sulfate sulfotransferase deficiency" RELATED [OMIM:271630] synonym: "PAPS-chondroitin sulphate sulfotransferase deficiency" RELATED OMO:0003005 [] synonym: "Sed, chondroitin sulfate type" RELATED [OMIM:271630] synonym: "Sed, chondroitin sulphate type" RELATED OMO:0003005 [] synonym: "spondyloepiphyseal dysplasia tarda, Toledo type" RELATED [OMIM:271630] xref: MESH:C535787 {source="MONDO:equivalentTo"} xref: OMIM:271630 {source="MONDO:equivalentTo"} xref: Orphanet:93303 {source="MONDO:equivalentObsolete", source="OMIM:271630"} xref: UMLS:C1849048 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:271630"} is_a: MONDO:0018662 {source="Orphanet:448242/btnt"} ! autosomal recessive brachyolmia property_value: exactMatch http://identifiers.org/mesh/C535787 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849048 property_value: exactMatch https://omim.org/entry/271630 [Term] id: MONDO:0010075 name: spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures def: "Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene." [MONDO:patterns/disease_series_by_gene] synonym: "B3GALT6 spondyloepimetaphyseal dysplasia with joint laxity" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SEMDJL" BROAD ABBREVIATION [OMIM:271640] synonym: "SEMDJL1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:271640] synonym: "spondyloepimetaphyseal dysplasia with joint laxity caused by mutation in B3GALT6" EXACT [MONDO:design_pattern] synonym: "spondyloepimetaphyseal dysplasia with joint laxity, Beighton type" EXACT [Orphanet:642099] synonym: "spondyloepimetaphyseal dysplasia with JOINT laxity, type 1, with or without fractures" RELATED [OMIM:271640] synonym: "spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures" EXACT [MONDO:Lexical, OMIM:271640] xref: DOID:0112198 {source="MONDO:equivalentTo"} xref: OMIM:271640 {source="MONDO:equivalentTo"} xref: Orphanet:642099 {source="MONDO:equivalentTo"} is_a: MONDO:0019675 {source="DC-OMIM:271640", source="MONDO:Redundant"} ! spondyloepimetaphyseal dysplasia with joint laxity is_a: MONDO:0800086 {source="PMID:31633310"} ! primary bone dysplasia with multiple joint dislocations property_value: exactMatch DOID:0112198 property_value: exactMatch https://omim.org/entry/271640 property_value: exactMatch Orphanet:642099 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0010076 name: spondyloepimetaphyseal dysplasia, Irapa type def: "A spondyloepimetaphyseal dysplasia is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment." [https://orcid.org/0000-0001-5208-3432, Orphanet:93351] subset: ordo_disease {source="Orphanet:93351"} synonym: "SEMD, Irapa type" EXACT [Orphanet:93351] synonym: "SEMDIT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:271650] synonym: "spondyloepimetaphyseal dysplasia, Irapa type" EXACT [MONDO:Lexical, OMIM:271650] xref: MESH:C562958 {source="MONDO:equivalentTo"} xref: OMIM:271650 {source="Orphanet:93351", source="MONDO:equivalentTo", source="Orphanet:93351/e"} xref: Orphanet:93351 {source="MONDO:equivalentTo", source="OMIM:271650"} xref: SCTID:717330004 {source="MONDO:equivalentTo"} xref: UMLS:C0432213 {source="Orphanet:93351", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:271650"} is_a: MONDO:0100510 {source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia property_value: exactMatch http://identifiers.org/mesh/C562958 property_value: exactMatch http://identifiers.org/snomedct/717330004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432213 property_value: exactMatch https://omim.org/entry/271650 property_value: exactMatch Orphanet:93351 property_value: excluded_subClassOf MONDO:0016761 {source="DC-OMIM:271650", source="Orphanet:93351"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5280 xsd:anyURI [Term] id: MONDO:0010077 name: spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome def: "A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal." [https://orcid.org/0000-0001-5208-3432, Orphanet:93358] subset: ordo_disease {source="Orphanet:93358"} synonym: "Smed short limb-abnormal calcification type" RELATED [GARD:0010616] synonym: "SMED short limb-hand type" RELATED [GARD:0010616] synonym: "SMED type 2" RELATED [GARD:0010616] synonym: "Smed, short limb-abnormal calcification type" RELATED [OMIM:271665] synonym: "Smed, short limb-hand type" RELATED [OMIM:271665] synonym: "Smed, type 2" RELATED [OMIM:271665] synonym: "Smed-SL" RELATED [OMIM:271665] synonym: "Smed-SL/Ac" RELATED [OMIM:271665] synonym: "spondyloepimetaphyseal dysplasia - short limb - abnormal calcification" RELATED [GARD:0010616] synonym: "spondylometaepiphyseal dysplasia short limb-abnormal calcification type" RELATED [GARD:0010616] synonym: "spondylometaepiphyseal dysplasia short limb-hand type" RELATED [GARD:0010616] synonym: "spondylometaepiphyseal dysplasia, short limb-abnormal calcification type" RELATED [OMIM:271665] synonym: "spondylometaepiphyseal dysplasia, short limb-hand type" RELATED [OMIM:271665] xref: DOID:0112196 {source="MONDO:equivalentTo"} xref: MESH:C564794 {source="MONDO:equivalentTo"} xref: OMIM:271665 {source="MONDO:equivalentTo", source="Orphanet:93358", source="Orphanet:93358/e"} xref: Orphanet:93358 {source="OMIM:271665", source="MONDO:equivalentTo"} xref: UMLS:C1849011 {source="OMIM:271665", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:93358"} is_a: MONDO:0100510 {source="PMID:31633310", source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia property_value: exactMatch DOID:0112196 property_value: exactMatch http://identifiers.org/mesh/C564794 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849011 property_value: exactMatch https://omim.org/entry/271665 property_value: exactMatch Orphanet:93358 property_value: excluded_subClassOf MONDO:0016761 {source="Orphanet:93358"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5280 xsd:anyURI [Term] id: MONDO:0010078 name: spondyloperipheral dysplasia def: "A condition caused by by truncating mutations in the C-propeptide of COL2A1. Like other type II collagen disorders it is characterized by short stature, platyspondyly and epiphyseal dysplasia. A distinguishing feature is the presence of brachydactyly with a prominent first toe." [https://orcid.org/0000-0001-8612-1062] subset: ordo_disease {source="Orphanet:1856"} synonym: "spondyloperipheral dysplasia" EXACT [OMIM:271700] synonym: "spondyloperipheral dysplasia with short ulna" RELATED [OMIM:271700] synonym: "spondyloperipheral dysplasia-short ulna syndrome" EXACT [https://orcid.org/0000-0001-8612-1062] xref: DOID:0112195 {source="MONDO:equivalentTo"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535799 {source="Orphanet:1856/e", source="MONDO:equivalentTo", source="Orphanet:1856"} xref: NCIT:C135088 {source="MONDO:equivalentTo"} xref: OMIM:271700 {source="Orphanet:1856/e", source="MONDO:equivalentTo", source="Orphanet:1856"} xref: Orphanet:1856 {source="OMIM:271700", source="MONDO:equivalentTo"} xref: SCTID:702339001 {source="MONDO:equivalentTo"} xref: UMLS:C0796173 {source="Orphanet:1856/e", source="OMIM:271700", source="NCIT:C135088", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1856"} is_a: MONDO:0016761 {source="Orphanet:1856"} ! spondyloepiphyseal dysplasia is_a: MONDO:0022800 {source="Orphanet:1856", source="PMID:31633310"} ! type 2 collagenopathy property_value: exactMatch DOID:0112195 property_value: exactMatch http://identifiers.org/mesh/C535799 property_value: exactMatch http://identifiers.org/snomedct/702339001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796173 property_value: exactMatch https://omim.org/entry/271700 property_value: exactMatch NCIT:C135088 property_value: exactMatch Orphanet:1856 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5282 xsd:anyURI [Term] id: MONDO:0010079 name: Canavan disease def: "A neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay." [Orphanet:141] subset: gard_rare {source="GARD:0005984"} subset: ordo_disease {source="Orphanet:141"} synonym: "ACY2 deficiency" EXACT [Orphanet:141] synonym: "Acy2 deficiency" RELATED [OMIM:271900] synonym: "aminoacylase 2 deficiency" EXACT [Orphanet:141] synonym: "Asp deficiency" RELATED [OMIM:271900] synonym: "Aspa deficiency" RELATED [OMIM:271900] synonym: "aspartoacylase deficiency" EXACT [OMIM:271900, Orphanet:141] synonym: "Canavan disease" EXACT [OMIM:271900] synonym: "Canavan-VAN Bogaert-Bertrand disease" EXACT [DOID:3613] synonym: "Canavan-Van Bogaert-Bertrand disease" RELATED [OMIM:271900] synonym: "spongy Degeneration of central nervous system" RELATED [OMIM:271900] synonym: "spongy degeneration of central nervous system" EXACT [DOID:3613] synonym: "spongy degeneration of the brain" EXACT [Orphanet:141] synonym: "spongy degeneration of the central nervous system" RELATED [GARD:0005984] synonym: "Von Bogaert-Bertrand disease" RELATED [GARD:0005984] xref: DOID:3613 {source="MONDO:equivalentTo"} xref: MedDRA:10067608 {source="Orphanet:141/e", source="Orphanet:141"} xref: MESH:D017825 {source="Orphanet:141/e", source="MONDO:equivalentTo", source="DOID:3613", source="Orphanet:141"} xref: NCIT:C84611 {source="MONDO:equivalentTo", source="DOID:3613"} xref: OMIM:271900 {source="Orphanet:141/e", source="MONDO:equivalentTo", source="DOID:3613", source="Orphanet:141"} xref: Orphanet:141 {source="OMIM:271900", source="MONDO:equivalentTo"} xref: SCTID:80544005 {source="MONDO:equivalentTo", source="DOID:3613"} xref: UMLS:C0206307 {source="NCIT:C84611", source="Orphanet:141/e", source="OMIM:271900", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:3613", source="Orphanet:141"} is_a: MONDO:0017686 {source="Orphanet:141"} ! inborn aminoacylase deficiency is_a: MONDO:0019046 {source="DOID:3613", source="NCIT:C84611", source="Orphanet:141"} ! leukodystrophy property_value: closeMatch http://identifiers.org/meddra/10067608 property_value: exactMatch DOID:3613 property_value: exactMatch http://identifiers.org/mesh/D017825 property_value: exactMatch http://identifiers.org/snomedct/80544005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206307 property_value: exactMatch https://omim.org/entry/271900 property_value: exactMatch NCIT:C84611 property_value: exactMatch Orphanet:141 property_value: excluded_subClassOf MONDO:0016399 {source="Orphanet:141"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5984/canavan-disease xsd:anyURI {source="GARD:0005984"} [Term] id: MONDO:0010080 name: familial infantile bilateral striatal necrosis def: "The familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." [Orphanet:225154] subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:225154"} synonym: "bilateral striatal Necrosis, infantile" RELATED [OMIM:271930] synonym: "familial bilateral striatal necrosis" RELATED [GARD:0010665] synonym: "familial IBSN" EXACT [Orphanet:225154] synonym: "familial infantile striatonigral degeneration" EXACT [Orphanet:225154] synonym: "familial infantile striatonigral necrosis" EXACT [Orphanet:225154] synonym: "FBSN" RELATED ABBREVIATION [GARD:0010665] synonym: "hereditary infantile bilateral striatal necrosis" EXACT [MONDO:patterns/hereditary] synonym: "infantile bilateral striatal necrosis" RELATED [OMIM:271930] synonym: "SNDI" RELATED ABBREVIATION [MONDO:Lexical, OMIM:271930] synonym: "striatal degeneration, familial" RELATED [OMIM:271930] synonym: "striatonigral degeneration, infantile" RELATED [MONDO:Lexical, OMIM:271930] xref: OMIM:271930 {source="Orphanet:225154/e", source="MONDO:equivalentTo", source="Orphanet:225154"} xref: Orphanet:225154 {source="OMIM:271930", source="MONDO:equivalentTo"} xref: UMLS:CN201303 {source="MONDO:equivalentObsolete"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDO:indirect"} ! syndromic disease is_a: MONDO:0003122 {source="OMIM:271930"} ! striatonigral degeneration is_a: MONDO:0015518 {source="MONDO:Redundant", source="Orphanet:225154"} ! infantile bilateral striatal necrosis intersection_of: MONDO:0015518 ! infantile bilateral striatal necrosis intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch https://omim.org/entry/271930 property_value: exactMatch Orphanet:225154 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10665/familial-bilateral-striatal-necrosis xsd:anyURI {source="GARD:0010665"} [Term] id: MONDO:0010082 name: subaortic stenosis-short stature syndrome subset: gard_rare {source="GARD:0000405"} subset: ordo_malformation_syndrome {source="Orphanet:3191"} synonym: "Onat syndrome" EXACT [OMIM:271960, Orphanet:3191] synonym: "subaortic stenosis short stature syndrome" RELATED [GARD:0000405] synonym: "subaortic stenosis--short stature syndrome" RELATED [OMIM:271960] xref: MESH:C537749 {source="MONDO:equivalentTo"} xref: OMIM:271960 {source="MONDO:equivalentTo", source="Orphanet:3191", source="Orphanet:3191/e"} xref: Orphanet:3191 {source="MONDO:equivalentTo", source="OMIM:271960"} xref: UMLS:C0795947 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3191", source="OMIM:271960"} is_a: MONDO:0020215 {source="Orphanet:3191"} ! syndromic corneal dystrophy property_value: exactMatch http://identifiers.org/mesh/C537749 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795947 property_value: exactMatch https://omim.org/entry/271960 property_value: exactMatch Orphanet:3191 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/405/subaortic-stenosis-short-stature-syndrome xsd:anyURI {source="GARD:0000405"} [Term] id: MONDO:0010083 name: succinic semialdehyde dehydrogenase deficiency def: "Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation." [Orphanet:22] subset: gard_rare {source="GARD:0007695"} subset: ordo_disease {source="Orphanet:22"} synonym: "4-hydroxybutyric aciduria" EXACT [DOID:0060175, OMIM:271980, Orphanet:22] synonym: "GABA metabolic defect" RELATED [OMIM:271980] synonym: "gamma-hydroxybutyric aciduria" EXACT [DOID:0060175, OMIM:271980, Orphanet:22] synonym: "gamma-hydroxybutyricaciduria" RELATED [GARD:0007695] synonym: "SSADH" EXACT ABBREVIATION [DOID:0060175] synonym: "SSADH deficiency" EXACT [Orphanet:22] synonym: "Ssadh deficiency" RELATED [OMIM:271980] synonym: "SSADHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:271980] synonym: "succinic semialdehyde dehydrogenase deficiency" EXACT [MONDO:Lexical, OMIM:271980] xref: DOID:0060175 {source="MONDO:equivalentTo"} xref: MESH:C535803 {source="MONDO:equivalentTo"} xref: OMIM:271980 {source="Orphanet:22", source="MONDO:equivalentTo", source="Orphanet:22/e"} xref: Orphanet:22 {source="MONDO:equivalentTo", source="OMIM:271980"} xref: SCTID:49748000 {source="MONDO:equivalentTo"} xref: UMLS:C0268631 {source="Orphanet:22", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:271980"} is_a: MONDO:0000698 {source="DOID:0060175"} ! gamma-amino butyric acid metabolism disorder property_value: exactMatch DOID:0060175 property_value: exactMatch http://identifiers.org/mesh/C535803 property_value: exactMatch http://identifiers.org/snomedct/49748000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268631 property_value: exactMatch https://omim.org/entry/271980 property_value: exactMatch Orphanet:22 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7695/succinic-semialdehyde-dehydrogenase-deficiency xsd:anyURI {source="GARD:0007695"} [Term] id: MONDO:0010086 name: obsolete sudden infant death syndrome def: "OBSOLETE. Sudden infant death syndrome (SIDS) is the unexpected, sudden death of a child under age 1 which cannot be explained after a thorough investigation is conducted. Infants who are affected by the condition generally appear healthy with no suspicious signs and symptoms prior to the incident. It is the leading cause of death in infants age 1 to 12 months old. The exact underlying cause of SIDS is unknown; however, scientists suspect that it is likely a multifactorial condition (associated with the effects of multiple genes in combination with lifestyle and environmental factors). Although there is no guaranteed way to prevent SIDS, the American Academy of Pediatrics has a published list of recommendationsfor risk reduction. Please click on the link to access this resource." [https://rarediseases.info.nih.gov/diseases/7711/sudden-infant-death-syndrome] comment: This is not really a disease, and it is really an outcome of a variety of potential reasons, some which could be genetic, or environmental or maybe entirely unknown. subset: gard_rare {source="GARD:0007711"} synonym: "cot death" EXACT [DOID:9007] synonym: "cot death (context-dependent category)" EXACT [DOID:9007] synonym: "crib death" EXACT [NCIT:C85173] synonym: "Crib death (context-dependent category)" EXACT [DOID:9007] synonym: "SIDS" EXACT ABBREVIATION [DOID:9007] synonym: "Sids" RELATED [OMIM:272120] synonym: "sudden death of nonspecific cause in infancy" EXACT [DOID:9007] synonym: "sudden infant death syndrome" EXACT [OMIM:272120] synonym: "sudden infant death syndrome (context-dependent category)" EXACT [DOID:9007] synonym: "sudden infant death syndrome (finding)" EXACT [DOID:9007] synonym: "sudden infant death syndrome NOS (context-dependent category)" EXACT [DOID:9007] synonym: "sudden infant death syndrome, susceptibility to" EXACT [OMIM:272120, OMIM:genemap2] xref: DOID:9007 {source="MONDO:obsoleteEquivalent", source="EFO:0005303"} xref: EFO:0005303 {source="MONDO:obsoleteEquivalent"} xref: ICD10WHO:R95 {source="MONDO:obsoleteEquivalent"} xref: ICD9:798.0 {source="DOID:9007", source="EFO:0005303"} xref: MedDRA:10042439 {source="EFO:0005303"} xref: MESH:D013398 {source="DOID:9007", source="MONDO:obsoleteEquivalent"} xref: NCIT:C85173 {source="DOID:9007", source="MONDO:obsoleteEquivalent", source="EFO:0005303"} xref: OMIM:272120 {source="DOID:9007", source="MONDO:obsoleteEquivalent", source="EFO:0005303"} xref: SCTID:51178009 {source="DOID:9007", source="MONDO:obsoleteEquivalent", source="EFO:0005303"} xref: UMLS:C0038644 {source="DOID:9007", source="MONDO:obsoleteEquivalent", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C85173", source="OMIM:272120"} property_value: closeMatch http://identifiers.org/meddra/10042439 property_value: exactMatch DOID:9007 property_value: exactMatch http://identifiers.org/mesh/D013398 property_value: exactMatch http://identifiers.org/snomedct/51178009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038644 property_value: exactMatch https://icd.who.int/browse10/2019/en#/R95 property_value: exactMatch https://omim.org/entry/272120 property_value: exactMatch NCIT:C85173 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2759 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7711/sudden-infant-death-syndrome xsd:anyURI {source="GARD:0007711"} is_obsolete: true [Term] id: MONDO:0010088 name: mucosulfatidosis def: "Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus." [Orphanet:585] subset: ordo_disease {source="Orphanet:585"} synonym: "juvenile sulfatidosis" RELATED [GARD:0005061] synonym: "juvenile sulfatidosis, Austin type" EXACT [Orphanet:585] synonym: "MSD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:272200, Orphanet:585] synonym: "mucosulfatidosis" EXACT [OMIM:272200, Orphanet:585] synonym: "multiple sulfatase deficiency" RELATED [MONDO:Lexical, OMIM:272200] synonym: "multiple sulfatase deficiency disease" EXACT [DOID:0050441] synonym: "sulfatidosis juvenile, Austin type" RELATED [GARD:0005061] synonym: "sulfatidosis, juvenile, Austin type" EXACT [DOID:0050441, OMIM:272200] xref: DOID:0050441 {source="MONDO:equivalentTo"} xref: MESH:D052517 {source="DOID:0050441", source="MONDO:equivalentTo"} xref: NCIT:C84908 {source="DOID:0050441", source="MONDO:equivalentTo"} xref: OMIM:272200 {source="DOID:0050441", source="Orphanet:585/e", source="MONDO:equivalentTo", source="Orphanet:585"} xref: Orphanet:585 {source="MONDO:equivalentTo", source="OMIM:272200"} xref: SCTID:54898003 {source="DOID:0050441", source="MONDO:equivalentTo"} xref: UMLS:C0268263 {source="DOID:0050441", source="Orphanet:585/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C84908", source="OMIM:272200", source="Orphanet:585"} is_a: MONDO:0015327 {source="Orphanet:585"} ! developmental anomaly of metabolic origin is_a: MONDO:0015905 ! syndromic dyslipidemia is_a: MONDO:0017270 ! autosomal ichthyosis syndrome is_a: MONDO:0019255 {source="DOID:0050441", source="MESH:D052517/inferred", source="MONDO:0018299-obsoleted", source="Orphanet:585"} ! sphingolipidosis is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement property_value: exactMatch DOID:0050441 property_value: exactMatch http://identifiers.org/mesh/D052517 property_value: exactMatch http://identifiers.org/snomedct/54898003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268263 property_value: exactMatch https://omim.org/entry/272200 property_value: exactMatch NCIT:C84908 property_value: exactMatch Orphanet:585 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0010089 name: isolated sulfite oxidase deficiency subset: ordo_clinical_subtype {source="Orphanet:99731"} synonym: "ISOD" EXACT ABBREVIATION [OMIM:272300, Orphanet:99731] synonym: "isolated sulfite oxidase deficiency" EXACT [] synonym: "sulfite oxidase deficiency" EXACT [OMIM:272300] synonym: "sulfite oxidase deficiency, isolated" EXACT [OMIM:272300] synonym: "Sulfocysteinuria" EXACT [Orphanet:99731] synonym: "sulfocysteinuria" EXACT [OMIM:272300] xref: DOID:0111270 {source="MONDO:equivalentTo"} xref: MESH:C538141 {source="MONDO:equivalentTo"} xref: OMIM:272300 {source="Orphanet:99731", source="MONDO:equivalentTo", source="Orphanet:99731/e"} xref: Orphanet:99731 {source="MONDO:equivalentTo", source="OMIM:272300"} xref: SCTID:367368009 {source="MONDO:equivalentTo"} is_a: MONDO:0019358 {source="Orphanet:99731"} ! encephalopathy due to sulfite oxidase deficiency property_value: exactMatch DOID:0111270 property_value: exactMatch http://identifiers.org/mesh/C538141 property_value: exactMatch http://identifiers.org/snomedct/367368009 property_value: exactMatch https://omim.org/entry/272300 property_value: exactMatch Orphanet:99731 [Term] id: MONDO:0010090 name: Summitt syndrome def: "Summitt syndrome is an extremely rare disorder originally described in two brothers and characterized by mild to severe craniosynostosis and syndactyly, obesity, and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later described in another patient. There have been no further descriptions in the literature since 1979. Summitt syndrome could be a variant of Carpenter syndrome." [Orphanet:3210] subset: gard_rare {source="GARD:0000127"} subset: ordo_malformation_syndrome {source="Orphanet:3210"} synonym: "recessive acrocephalosyndactyly with normal intelligence" RELATED [GARD:0000127] synonym: "Summitt syndrome" EXACT [OMIM:272350] synonym: "Summitt's acrocephalosyndactyly" RELATED [GARD:0000127] xref: ICD10CM:Q82.0 {source="Orphanet:3210", source="MONDO:relatedTo", source="Orphanet:3210/attributed", source="Orphanet:3210/ntbt"} xref: MESH:C538142 {source="Orphanet:3210", source="MONDO:equivalentTo", source="Orphanet:3210/e"} xref: OMIM:272350 {source="Orphanet:3210", source="MONDO:equivalentTo", source="Orphanet:3210/e"} xref: Orphanet:3210 {source="MONDO:equivalentTo", source="OMIM:272350"} xref: SCTID:733606001 {source="MONDO:equivalentTo"} xref: UMLS:C1802405 {source="Orphanet:3210", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3210/e", source="OMIM:272350"} is_a: MONDO:0015338 {source="Orphanet:3210", source="Orphanet:3210/inferred"} ! syndromic craniosynostosis property_value: exactMatch http://identifiers.org/mesh/C538142 property_value: exactMatch http://identifiers.org/snomedct/733606001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1802405 property_value: exactMatch https://omim.org/entry/272350 property_value: exactMatch Orphanet:3210 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/127/summitt-syndrome xsd:anyURI {source="GARD:0000127"} [Term] id: MONDO:0010091 name: Cold-induced sweating syndrome 1 def: "Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly." [Orphanet:1545] subset: ordo_malformation_syndrome {source="Orphanet:1545"} synonym: "CISS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:272430] synonym: "cold-induced sweating syndrome 1" RELATED [MONDO:Lexical, OMIM:272430] synonym: "cold-induced sweating syndrome type 1" EXACT [MONDORULE:1, OMIM:272430] synonym: "Crisponi syndrome" EXACT [OMIM:272430] synonym: "CRISPONI/cold-induced sweating syndrome 1" RELATED [OMIM:272430] synonym: "Crisponi/cold-induced sweating syndrome 1" RELATED [OMIM:272430] synonym: "muscle contractions, Tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death" RELATED [OMIM:272430] synonym: "Sohar-Crisponi syndrome" RELATED [OMIM:272430] xref: DOID:0080329 {source="MONDO:equivalentTo"} xref: MESH:C536214 {source="MONDO:equivalentTo", source="Orphanet:1545", source="Orphanet:1545/e"} xref: OMIM:272430 {source="MONDO:equivalentTo"} xref: OMIM:601378 {source="MONDO:equivalentObsolete", source="Orphanet:1545", source="Orphanet:1545/e"} xref: Orphanet:1545 {source="MONDO:equivalentTo"} xref: SCTID:725097006 {source="MONDO:equivalentTo"} is_a: MONDO:0015526 {source="DC-OMIM:272430", source="OMIM:272430"} ! cold-induced sweating syndrome property_value: exactMatch DOID:0080329 property_value: exactMatch http://identifiers.org/mesh/C536214 property_value: exactMatch http://identifiers.org/snomedct/725097006 property_value: exactMatch https://omim.org/entry/272430 property_value: exactMatch Orphanet:1545 [Term] id: MONDO:0010092 name: Filippi syndrome def: "Filippi syndrome is characterized by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive." [Orphanet:3255] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:3255"} synonym: "FILIPPI syndrome" RELATED [OMIM:272440] synonym: "Filippi syndrome" EXACT [MONDO:Lexical, OMIM:272440] synonym: "FLPIS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:272440] synonym: "Scott craniodigital syndrome with intellectual disability" RELATED [OMIM:272440] synonym: "Scott craniodigital syndrome with mental retardation" RELATED DEPRECATED [OMIM:272440] synonym: "syndactyly type I with microcephaly and intellectual disability" RELATED [GARD:0000062] synonym: "syndactyly type I with microcephaly and mental retardation" RELATED DEPRECATED [GARD:0000062] synonym: "syndactyly, type I, with microcephaly and intellectual disability" RELATED [OMIM:272440] synonym: "syndactyly, type I, with microcephaly and mental retardation" RELATED DEPRECATED [OMIM:272440] synonym: "type 1 syndactyly-microcephaly-intellectual disability syndrome" EXACT [Orphanet:3255] synonym: "unusual facial appearance, microcephaly, growth and intellectual disability and syndactyly" RELATED [GARD:0000062] synonym: "unusual facial appearance, microcephaly, growth and mental retardation and syndactyly" RELATED DEPRECATED [GARD:0000062] xref: DOID:0112194 {source="MONDO:equivalentTo"} xref: MESH:C538152 {source="Orphanet:3255", source="MONDO:equivalentTo", source="Orphanet:3255/e"} xref: OMIM:272440 {source="Orphanet:3255", source="MONDO:equivalentTo", source="Orphanet:3255/e", source="GARD:0000062"} xref: Orphanet:3255 {source="MONDO:equivalentTo", source="OMIM:272440", source="GARD:0000062"} xref: SCTID:720954000 {source="MONDO:equivalentTo"} xref: UMLS:C0795940 {source="Orphanet:3255", source="MONDO:equivalentTo", source="Orphanet:3255/e", source="MONDO:ncbi_mim2gene_medline", source="OMIM:272440", source="GARD:0000062"} is_a: MONDO:0015159 {source="Orphanet:3255"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism property_value: exactMatch DOID:0112194 property_value: exactMatch http://identifiers.org/mesh/C538152 property_value: exactMatch http://identifiers.org/snomedct/720954000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795940 property_value: exactMatch https://omim.org/entry/272440 property_value: exactMatch Orphanet:3255 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3255"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010094 name: spondylocarpotarsal synostosis syndrome def: "Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism." [Orphanet:3275] subset: gard_rare {source="GARD:0004974"} subset: ordo_malformation_syndrome {source="Orphanet:3275"} synonym: "congenital scoliosis with unilateral unsegmented bar" EXACT [DOID:0090116] synonym: "congenital synspondylism" EXACT [DOID:0090116] synonym: "scoliosis, congenital with unilateral unsegmented bar" RELATED [GARD:0004974] synonym: "scoliosis, congenital, with unilateral unsegmented Bar" RELATED [OMIM:272460] synonym: "SCT" EXACT ABBREVIATION [DOID:0090116, MONDO:Lexical, OMIM:272460] synonym: "spondylocarpotarsal syndrome" EXACT [DOID:0090116, OMIM:272460] synonym: "spondylocarpotarsal synostosis" EXACT [DOID:0090116] synonym: "spondylocarpotarsal synostosis syndrome" EXACT [MONDO:Lexical, OMIM:272460] synonym: "Synspondylism" EXACT [Orphanet:3275] synonym: "Synspondylism congenital" RELATED [GARD:0004974] synonym: "Synspondylism, congenital" RELATED [OMIM:272460] synonym: "vertebral fusion with carpal coalition" EXACT [DOID:0090116, OMIM:272460] xref: DOID:0090116 {source="MONDO:equivalentTo"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535780 {source="MONDO:equivalentTo"} xref: OMIM:272460 {source="Orphanet:3275/e", source="MONDO:equivalentTo", source="DOID:0090116", source="Orphanet:3275"} xref: Orphanet:3275 {source="MONDO:equivalentTo", source="OMIM:272460", source="DOID:0090116"} xref: SCTID:702351004 {source="MONDO:equivalentTo"} xref: UMLS:C1848934 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:272460", source="Orphanet:3275"} is_a: EFO:0005541 {source="DOID:0090116", source="MONDO:Redundant", source="MONDO:indirect"} ! bone development disease is_a: MONDO:0019690 {source="Orphanet:3275", source="PMID:31633310"} ! filamin-related bone disorder is_a: MONDO:0019694 {source="Orphanet:3275"} ! spondylodysplastic dysplasia property_value: exactMatch DOID:0090116 property_value: exactMatch http://identifiers.org/mesh/C535780 property_value: exactMatch http://identifiers.org/snomedct/702351004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848934 property_value: exactMatch https://omim.org/entry/272460 property_value: exactMatch Orphanet:3275 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4974/spondylocarpotarsal-synostosis-syndrome xsd:anyURI {source="GARD:0004974"} [Term] id: MONDO:0010095 name: ataxia-tapetoretinal degeneration syndrome subset: ordo_disease {source="Orphanet:1178"} synonym: "tapetoretinal degeneration with ataxia" RELATED [OMIM:272600] xref: MESH:C564788 {source="MONDO:equivalentTo"} xref: OMIM:272600 {source="Orphanet:1178", source="MONDO:equivalentTo", source="Orphanet:1178/e"} xref: Orphanet:1178 {source="OMIM:272600", source="MONDO:equivalentTo"} xref: UMLS:C1848932 {source="OMIM:272600", source="Orphanet:1178", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0009671 {source="Orphanet:1178"} ! hereditary ataxia property_value: exactMatch http://identifiers.org/mesh/C564788 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848932 property_value: exactMatch https://omim.org/entry/272600 property_value: exactMatch Orphanet:1178 [Term] id: MONDO:0010098 name: taurodontism def: "Taurodontism is a dental anomaly characterized by an elongated pulp chamber, displaced toward the apical floor of the tooth with no constriction at the level of the cemento-enamel junction, and short roots. It most frequently affects permanent molar teeth. Taurodontism increases the risk of pulp exposure. It can be isolated or associated with certain syndromes such as Down syndrome, amelogenesis imperfecta, and Klinefelter syndrome." [Orphanet:3289] subset: ordo_morphological_anomaly {source="Orphanet:3289"} synonym: "Bull teeth" RELATED [GARD:0005119] synonym: "large pulp chambers in the molars" RELATED [GARD:0005119] synonym: "taurodontism" EXACT [MONDO:ambiguous, OMIM:272700] synonym: "taurodontism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0000679 {source="MONDO:otherHierarchy"} xref: MESH:C536946 {source="Orphanet:3289", source="MONDO:equivalentTo", source="Orphanet:3289/e"} xref: OMIM:272700 {source="Orphanet:3289", source="MONDO:equivalentTo", source="Orphanet:3289/e"} xref: Orphanet:3289 {source="OMIM:272700", source="MONDO:equivalentObsolete"} xref: SCTID:51744007 {source="MONDO:equivalentTo"} xref: UMLS:C0266039 {source="OMIM:272700", source="Orphanet:3289", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3289/e"} is_a: EFO:0000508 {source="Orphanet:3289/inferred"} ! genetic disorder is_a: EFO:1001216 {source="https://orcid.org/0000-0001-5208-3432"} ! tooth disease property_value: exactMatch http://identifiers.org/mesh/C536946 property_value: exactMatch http://identifiers.org/snomedct/51744007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266039 property_value: exactMatch https://omim.org/entry/272700 property_value: IAO:0000589 "taurodontism (disease)" xsd:string [Term] id: MONDO:0010099 name: Tay-Sachs disease AB variant def: "GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency." [Orphanet:309246] subset: ordo_disease {source="Orphanet:309246"} synonym: "Ab variant GM2-gangliosidosis" RELATED [OMIM:272750] synonym: "GM2 activator deficiency" RELATED [OMIM:272750] synonym: "GM2 gangliosidosis, AB variant" RELATED [Orphanet:309246] synonym: "GM2-gangliosidosis, AB variant" RELATED [OMIM:272750] synonym: "hexosaminidase activator deficiency" EXACT [OMIM:272750, Orphanet:309246] synonym: "Tay-Sachs disease, AB variant" RELATED [OMIM:272750] synonym: "Tay-Sachs disease, variant AB" EXACT [DOID:4795] xref: DOID:4795 {source="MONDO:equivalentTo"} xref: MESH:D049290 {source="DOID:4795", source="MONDO:equivalentTo"} xref: NCIT:C133084 {source="MONDO:equivalentTo"} xref: OMIM:272750 {source="Orphanet:309246/e", source="DOID:4795", source="MONDO:equivalentTo", source="Orphanet:309246"} xref: Orphanet:309246 {source="MONDO:equivalentTo", source="OMIM:272750"} xref: SCTID:71253000 {source="DOID:4795", source="MONDO:equivalentTo"} xref: UMLS:C0268275 {source="NCIT:C133084", source="DOID:4795", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:309246", source="OMIM:272750"} is_a: MONDO:0017720 {source="DOID:4795", source="MESH:D049290", source="Orphanet:309246"} ! GM2 gangliosidosis property_value: exactMatch DOID:4795 property_value: exactMatch http://identifiers.org/mesh/D049290 property_value: exactMatch http://identifiers.org/snomedct/71253000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268275 property_value: exactMatch https://omim.org/entry/272750 property_value: exactMatch NCIT:C133084 property_value: exactMatch Orphanet:309246 [Term] id: MONDO:0010100 name: Tay-Sachs disease def: "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency." [Orphanet:845] subset: gard_rare {source="GARD:0007737"} subset: ordo_disease {source="Orphanet:845"} synonym: "B variant GM2 gangliosidosis" RELATED [GARD:0007737] synonym: "B variant GM2-gangliosidosis" RELATED [OMIM:272800] synonym: "disease, Tay-Sachs" EXACT [DOID:3320] synonym: "gangliosidosis GM2, type 1" RELATED [GARD:0007737] synonym: "GM2 gangliosidosis, B, B1 variant" EXACT [Orphanet:845] synonym: "GM2 gangliosidosis, type 1" RELATED [GARD:0007737] synonym: "GM2-gangliosidosis, adult chronic type" RELATED [OMIM:272800] synonym: "GM2-gangliosidosis, several forms" EXACT [OMIM:272800, OMIM:genemap2] synonym: "GM2-gangliosidosis, type 1" RELATED [OMIM:272800] synonym: "GM2-gangliosidosis, variant B1" RELATED [OMIM:272800] synonym: "Hex A pseudodeficiency" EXACT [OMIM:272800, OMIM:genemap2] synonym: "hexa deficiency" RELATED [OMIM:272800] synonym: "hexosaminidase A deficiency" EXACT [DOID:3320, Orphanet:845] synonym: "hexosaminidase a deficiency" RELATED [OMIM:272800] synonym: "hexosaminidase a deficiency, adult type" RELATED [OMIM:272800] synonym: "hexosaminidase alpha-subunit deficiency (variant B)" RELATED [GARD:0007737] synonym: "sphingolipidosis, Tay-Sachs" RELATED [GARD:0007737] synonym: "TAY-Sachs disease" RELATED [OMIM:272800] synonym: "Tay-Sachs disease" EXACT [MONDO:Lexical, OMIM:272800] synonym: "Tay-Sachs disease, juvenile" RELATED [OMIM:272800] synonym: "Tay-Sachs disease, pseudo-Ab variant" RELATED [OMIM:272800] synonym: "Tay-Sachs disease, variant B1" RELATED [OMIM:272800] synonym: "TSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:272800] xref: DOID:3320 {source="MONDO:equivalentTo"} xref: ICD10CM:E75.02 {source="DOID:3320", source="MONDO:equivalentTo"} xref: MedDRA:10043147 {source="Orphanet:845", source="Orphanet:845/e"} xref: MESH:D013661 {source="DOID:3320", source="Orphanet:845", source="MONDO:equivalentTo", source="Orphanet:845/e"} xref: NCIT:C85184 {source="DOID:3320", source="MONDO:equivalentTo"} xref: OMIM:272800 {source="DOID:3320", source="Orphanet:845", source="MONDO:equivalentTo", source="Orphanet:845/e"} xref: Orphanet:845 {source="OMIM:272800", source="MONDO:equivalentTo"} xref: SCTID:111385000 {source="DOID:3320", source="MONDO:equivalentTo"} xref: UMLS:C0039373 {source="DOID:3320", source="OMIM:272800", source="Orphanet:845", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C85184", source="Orphanet:845/e"} is_a: MONDO:0004884 ! eye degenerative disorder is_a: MONDO:0017720 {source="DOID:3320", source="ICD10CM:E75.02", source="MESH:D013661", source="Orphanet:845"} ! GM2 gangliosidosis is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy is_a: MONDO:0020143 {source="Orphanet:845"} ! cerebral lipidosis with dementia property_value: closeMatch http://identifiers.org/meddra/10043147 property_value: exactMatch DOID:3320 property_value: exactMatch http://identifiers.org/mesh/D013661 property_value: exactMatch http://identifiers.org/snomedct/111385000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039373 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E75.02 property_value: exactMatch https://omim.org/entry/272800 property_value: exactMatch NCIT:C85184 property_value: exactMatch Orphanet:845 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7737/tay-sachs-disease xsd:anyURI {source="GARD:0007737"} [Term] id: MONDO:0010101 name: Teebi-Shaltout syndrome def: "Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features." [Orphanet:3291] subset: gard_rare {source="GARD:0005125"} subset: ordo_malformation_syndrome {source="Orphanet:3291"} synonym: "craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage" RELATED [OMIM:272950] synonym: "TBSH" RELATED ABBREVIATION [OMIM:272950] synonym: "Teebi Shaltout syndrome" RELATED [GARD:0005125] synonym: "Teebi-Shaltout syndrome" EXACT [OMIM:272950] xref: MESH:C536950 {source="MONDO:equivalentTo", source="Orphanet:3291", source="Orphanet:3291/e"} xref: OMIM:272950 {source="MONDO:equivalentTo", source="Orphanet:3291", source="Orphanet:3291/e"} xref: Orphanet:3291 {source="MONDO:equivalentTo", source="OMIM:272950"} xref: UMLS:C1848912 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3291", source="Orphanet:3291/e", source="OMIM:272950"} is_a: MONDO:0018454 {source="MONDO:0019710-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin is_a: MONDO:0019287 {source="Orphanet:3291"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C536950 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848912 property_value: exactMatch https://omim.org/entry/272950 property_value: exactMatch Orphanet:3291 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5125/teebi-shaltout-syndrome xsd:anyURI {source="GARD:0005125"} [Term] id: MONDO:0010102 name: taurodontia-absent teeth-sparse hair syndrome def: "This syndrome is characterized by congenital absence of the teeth, and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families." [Orphanet:2731] subset: gard_rare {source="GARD:0005118"} subset: ordo_malformation_syndrome {source="Orphanet:2731"} synonym: "taurodontia, absent teeth, and sparse hair" RELATED [OMIM:272980] synonym: "taurodontia, absent teeth, sparse hair syndrome" RELATED [GARD:0005118] synonym: "teeth, congenital absence of, with taurodontia and sparse hair" RELATED [OMIM:272980] xref: MESH:C536945 {source="Orphanet:2731", source="MONDO:equivalentTo", source="Orphanet:2731/e"} xref: OMIM:272980 {source="Orphanet:2731", source="MONDO:equivalentTo", source="Orphanet:2731/e"} xref: Orphanet:2731 {source="MONDO:equivalentObsolete", source="OMIM:272980"} xref: UMLS:C1848909 {source="Orphanet:2731", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:272980", source="Orphanet:2731/e"} is_a: MONDO:0019287 {source="MESH:C536945", source="Orphanet:2731"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C536945 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848909 property_value: exactMatch https://omim.org/entry/272980 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5118/taurodontia-absent-teeth-sparse-hair-syndrome xsd:anyURI {source="GARD:0005118"} [Term] id: MONDO:0010104 name: non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome def: "Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears." [Orphanet:2972] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2972"} synonym: "multiple non-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects" RELATED [GARD:0005027] synonym: "multiple none-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects" RELATED [GARD:0005127] synonym: "non erupted teeth with maxillary hypoplasia and genu valgum" RELATED [GARD:0005027] synonym: "Stoelinga de Koomen Davis syndrome" RELATED [GARD:0005027] synonym: "Stoelinga-de Koomen-Davis syndrome" EXACT [Orphanet:2972] synonym: "teeth noneruption of with maxillary hypoplasia and genu valgum" RELATED [GARD:0005127] synonym: "teeth, noneruption of, with maxillary hypoplasia and genu valgum" RELATED [OMIM:273050] xref: OMIM:273050 {source="GARD:0005027", source="GARD:0005127", source="Orphanet:2972", source="MONDO:equivalentTo", source="Orphanet:2972/e"} xref: Orphanet:2972 {source="OMIM:273050", source="MONDO:equivalentTo"} xref: SCTID:723442008 {source="MONDO:equivalentTo"} xref: UMLS:C1848903 {source="GARD:0005127", source="OMIM:273050", source="Orphanet:2972", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2972/e"} is_a: MONDO:0021147 {source="Orphanet:2972", source="Orphanet:2972/inferred"} ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/snomedct/723442008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848903 property_value: exactMatch https://omim.org/entry/273050 property_value: exactMatch Orphanet:2972 [Term] id: MONDO:0010110 name: tetraamelia-multiple malformations syndrome def: "Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent." [Orphanet:3301] comment: TODO split OMIM out subset: ordo_malformation_syndrome {source="Orphanet:3301"} synonym: "TETAMS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:273395] synonym: "Tetraamelia multiple malformations X-linked" RELATED [GARD:0000386] synonym: "TETRAAMELIA syndrome, autosomal recessive" RELATED [MONDO:Lexical, OMIM:273395] synonym: "Zimmer phocomelia" EXACT [Orphanet:3301] synonym: "Zimmer Taub Sova syndrome" RELATED [GARD:0000386] xref: DOID:0112191 {source="MONDO:equivalentTo"} xref: MESH:C536500 {source="Orphanet:3301", source="MONDO:equivalentTo", source="Orphanet:3301/e"} xref: Orphanet:3301 {source="MONDO:equivalentTo", source="OMIM:273395"} xref: SCTID:716249009 {source="MONDO:equivalentTo"} xref: UMLS:C2931218 {source="Orphanet:3301", source="MONDO:equivalentTo", source="Orphanet:3301/e"} is_a: MONDO:0015161 {source="Orphanet:3301"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation property_value: exactMatch DOID:0112191 property_value: exactMatch http://identifiers.org/mesh/C536500 property_value: exactMatch http://identifiers.org/snomedct/716249009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931218 property_value: exactMatch Orphanet:3301 [Term] id: MONDO:0010111 name: odontotrichomelic syndrome def: "Odontotrichomelic syndrome is characterized by malformations of all four extremities, hypoplastic nails, ear anomalies, hypotrichosis, abnormal dentition, hyperhidrosis and nasolacrimal duct obstruction. So far, it has been described in less than 10 patients. Transmission is autosomal recessive." [Orphanet:2723] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2723"} synonym: "Freire-Maia odontotrichomelic syndrome" EXACT [MONDO:0023191] synonym: "Freire-Maia syndrome" EXACT [Orphanet:2723] synonym: "odontotrichomelic hypohidrotic dysplasia" EXACT [GARD:0002381, MESH:C535637] synonym: "odontotrichomelic syndrome" EXACT [OMIM:273400] synonym: "tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities" EXACT [OMIM:273400] xref: MESH:C535637 {source="MONDO:equivalentTo"} xref: OMIM:273400 {source="MONDO:equivalentTo", source="Orphanet:2723", source="Orphanet:2723/e"} xref: Orphanet:2723 {source="MONDO:equivalentTo", source="OMIM:273400"} xref: SCTID:239028001 {source="MONDO:equivalentTo"} xref: UMLS:C2930960 {source="MONDO:equivalentTo", source="GARD:0002381"} xref: UMLS:CN074199 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0009263 ! GAPO syndrome property_value: exactMatch http://identifiers.org/mesh/C535637 property_value: exactMatch http://identifiers.org/snomedct/239028001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930960 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN074199 property_value: exactMatch https://omim.org/entry/273400 property_value: exactMatch Orphanet:2723 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2381/freire-maia-odontotrichomelic-syndrome xsd:anyURI {source="GARD:0002381"} [Term] id: MONDO:0010116 name: thoracomelic dysplasia subset: ordo_disease {source="Orphanet:1803"} synonym: "'thoraco-limb' dysplasia" RELATED [OMIM:273740] synonym: "Rivera-Perez-Salas syndrome" EXACT [Orphanet:1803] synonym: "thoraco-limb dysplasia" RELATED [GARD:0010612] synonym: "thoracolimb dysplasia, Rivera type" EXACT [Orphanet:1803] synonym: "thoracomelic dysplasia" EXACT [OMIM:273740] xref: MESH:C564773 {source="MONDO:equivalentTo"} xref: OMIM:273740 {source="Orphanet:1803/e", source="MONDO:equivalentTo", source="Orphanet:1803"} xref: Orphanet:1803 {source="MONDO:equivalentTo", source="OMIM:273740"} xref: UMLS:C1848863 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:273740", source="Orphanet:1803"} is_a: MONDO:0015929 {source="Orphanet:1803"} ! thoracic malformation is_a: MONDO:0019691 {source="Orphanet:1803"} ! short rib dysplasia property_value: exactMatch http://identifiers.org/mesh/C564773 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848863 property_value: exactMatch https://omim.org/entry/273740 property_value: exactMatch Orphanet:1803 [Term] id: MONDO:0010119 name: obsolete Glanzmann's thrombasthenia property_value: IAO:0000231 IAO:0000229 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2940 xsd:anyURI is_obsolete: true replaced_by: MONDO:0031332 [Term] id: MONDO:0010120 name: thrombocytopenia 3 synonym: "THC3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:273900] synonym: "thrombocytopenia 3" EXACT [MONDO:Lexical, OMIM:273900] synonym: "thrombocytopenia, autosomal recessive, 3" RELATED [OMIM:273900] xref: MESH:C567487 {source="MONDO:equivalentTo"} xref: OMIM:273900 {source="MONDO:equivalentTo"} xref: UMLS:C2678311 {source="OMIM:273900", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015679 {source="Orphanet:168629/btnt"} ! autosomal thrombocytopenia with normal platelets property_value: exactMatch http://identifiers.org/mesh/C567487 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678311 property_value: exactMatch https://omim.org/entry/273900 [Term] id: MONDO:0010121 name: thrombocytopenia-absent radius syndrome def: "Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia." [Orphanet:3320] subset: ordo_malformation_syndrome {source="Orphanet:3320"} synonym: "1q21.1 susceptibility locus for Thrombocytopenia-Absent Radius (TAR) syndrome" EXACT [DECIPHER:64] synonym: "absent radii and thrombocytopenia" RELATED [GARD:0005116] synonym: "chromosome 1Q21.1 deletion syndrome, 200-Kb" RELATED [OMIM:274000] synonym: "radial aplasia-thrombocytopenia syndrome" EXACT [NCIT:C99038] synonym: "TAR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:274000] synonym: "TAR syndrome" EXACT [Orphanet:3320] synonym: "Tar syndrome" RELATED [OMIM:274000] synonym: "thrombocytopenia absent radii" RELATED [GARD:0005116] synonym: "thrombocytopenia absent radius syndrome" RELATED [GARD:0005116] synonym: "thrombocytopenia with absent radii (TAR) syndrome" EXACT [DOID:14699] synonym: "thrombocytopenia-absent radius syndrome" EXACT [MONDO:Lexical, OMIM:274000] xref: DECIPHER:64 {source="MONDO:equivalentTo"} xref: DOID:14699 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10071719 {source="Orphanet:3320", source="Orphanet:3320/e"} xref: MESH:C536940 {source="MONDO:equivalentTo", source="DOID:14699"} xref: NCIT:C99038 {source="MONDO:equivalentTo", source="DOID:14699"} xref: OMIM:274000 {source="Orphanet:3320", source="MONDO:equivalentTo", source="Orphanet:3320/e", source="DOID:14699"} xref: Orphanet:3320 {source="MONDO:equivalentTo", source="OMIM:274000"} xref: SCTID:85589009 {source="MONDO:equivalentTo", source="DOID:14699"} xref: UMLS:C0175703 {source="Orphanet:3320", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3320/e", source="OMIM:274000", source="NCIT:C99038", source="DOID:14699"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C99038"} ! syndromic disease is_a: MONDO:0009332 ! congenital hematological disorder is_a: MONDO:0018795 {source="Orphanet:3320"} ! syndromic constitutional thrombocytopenia is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect property_value: closeMatch http://identifiers.org/meddra/10071719 property_value: exactMatch DOID:14699 property_value: exactMatch http://identifiers.org/mesh/C536940 property_value: exactMatch http://identifiers.org/snomedct/85589009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0175703 property_value: exactMatch https://omim.org/entry/274000 property_value: exactMatch NCIT:C99038 property_value: exactMatch Orphanet:3320 property_value: excluded_subClassOf MONDO:0000761 {source="DOID:14699"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0010122 name: congenital thrombotic thrombocytopenic purpura def: "Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity." [Orphanet:93583] subset: ordo_clinical_subtype {source="Orphanet:93583"} synonym: "congenital ADAMTS-13 deficiency" EXACT [Orphanet:93583] synonym: "congenital ADAMTS13 deficiency" EXACT [NCIT:C131657] synonym: "congenital thrombotic thrombocytopenic purpura" EXACT [] synonym: "congenital TTP" EXACT [Orphanet:93583] synonym: "familial TTP" EXACT [Orphanet:93583] synonym: "hereditary thrombotic thrombocytopenic purpura" EXACT [MONDO:patterns/hereditary] synonym: "Microangiopathic hemolytic Anaemia" RELATED OMO:0003005 [] synonym: "Microangiopathic hemolytic Anemia" RELATED [OMIM:274150] synonym: "Microangiopathic hemolytic Anemia, congenital" RELATED [OMIM:274150] synonym: "Schulman-Upshaw syndrome" RELATED [OMIM:274150] synonym: "thrombotic microangiopathy, familial" RELATED [OMIM:274150] synonym: "thrombotic thrombocytopenic purpura, congenital" RELATED [MONDO:Lexical, OMIM:274150] synonym: "thrombotic thrombocytopenic purpura, familial" RELATED [OMIM:274150] synonym: "thrombotic thrombocytopenic purpura, hereditary" EXACT [OMIM:274150, OMIM:genemap2] synonym: "TTP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:274150] synonym: "TTP, congenital" RELATED [GARD:0009430] synonym: "Upshaw Factor, deficiency of" RELATED [OMIM:274150] synonym: "Upshaw-Schulman syndrome" EXACT [OMIM:274150, Orphanet:93583] synonym: "USS" RELATED ABBREVIATION [GARD:0009430] xref: ICD10CM:M31.3 {source="Orphanet:93583/attributed", source="Orphanet:93583/ntbt", source="MONDO:relatedTo", source="Orphanet:93583"} xref: ICD9:287.33 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C131657 {source="MONDO:equivalentTo"} xref: OMIM:274150 {source="Orphanet:93583", source="MONDO:equivalentTo", source="Orphanet:93583/e"} xref: Orphanet:93583 {source="OMIM:274150", source="MONDO:equivalentTo"} xref: SCTID:373420004 {source="MONDO:equivalentTo"} is_a: MONDO:0000009 ! inherited bleeding disorder, platelet-type is_a: MONDO:0009332 ! congenital hematological disorder is_a: MONDO:0018896 {source="MONDO:Redundant", source="NCIT:C131657", source="Orphanet:93583"} ! thrombotic thrombocytopenic purpura is_a: MONDO:0021181 {source="MONDO:Entailed", source="Orphanet:93583"} ! inherited blood coagulation disorder is_a: MONDO:0100241 ! inherited thrombocytopenia intersection_of: MONDO:0018896 ! thrombotic thrombocytopenic purpura intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/snomedct/373420004 property_value: exactMatch https://omim.org/entry/274150 property_value: exactMatch NCIT:C131657 property_value: exactMatch Orphanet:93583 property_value: excluded_subClassOf MONDO:0005240 {source="MONDO:Redundant", source="Orphanet:93583/inferred"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010123 name: absent thumb-short stature-immunodeficiency syndrome def: "An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978." [Orphanet:2951] subset: ordo_malformation_syndrome {source="Orphanet:2951"} synonym: "thumb agenesis, short stature, and immunodeficiency" RELATED [OMIM:274190] xref: MESH:C564770 {source="MONDO:equivalentTo"} xref: OMIM:274190 {source="Orphanet:2951", source="MONDO:equivalentTo", source="Orphanet:2951/e"} xref: Orphanet:2951 {source="OMIM:274190", source="MONDO:equivalentTo"} xref: UMLS:C1848818 {source="OMIM:274190", source="Orphanet:2951", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015823 {source="Orphanet:2951"} ! primary immunodeficiency due to a defect in adaptive immunity property_value: exactMatch http://identifiers.org/mesh/C564770 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848818 property_value: exactMatch https://omim.org/entry/274190 property_value: exactMatch Orphanet:2951 [Term] id: MONDO:0010125 name: upper limb defect-eye and ear abnormalities syndrome def: "Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation." [Orphanet:2489] subset: ordo_malformation_syndrome {source="Orphanet:2489"} synonym: "thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness" RELATED [OMIM:274205] xref: MESH:C564769 {source="MONDO:equivalentTo"} xref: OMIM:274205 {source="Orphanet:2489", source="MONDO:equivalentTo", source="Orphanet:2489/e"} xref: Orphanet:2489 {source="MONDO:equivalentTo", source="OMIM:274205"} xref: UMLS:C1848816 {source="Orphanet:2489", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:274205"} is_a: MONDO:0015159 {source="Orphanet:2489"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C564769 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848816 property_value: exactMatch https://omim.org/entry/274205 property_value: exactMatch Orphanet:2489 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2489"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010127 name: thymoma, familial def: "An instance of thymoma (disease) that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] synonym: "hereditary thymoma (disease)" EXACT [MONDO:patterns/hereditary] synonym: "thymic neoplasia" RELATED [OMIM:274230] synonym: "thymoma, familial" EXACT [OMIM:274230] xref: MESH:C564767 {source="MONDO:equivalentTo"} xref: OMIM:274230 {source="MONDO:equivalentTo"} xref: UMLS:C1848814 {source="MONDO:equivalentTo", source="OMIM:274230", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:1000581 {source="MONDO:Redundant", source="Orphanet:99867/btnt"} ! Thymoma intersection_of: EFO:1000581 ! Thymoma intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/mesh/C564767 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848814 property_value: exactMatch https://omim.org/entry/274230 [Term] id: MONDO:0010128 name: thyrocerebrorenal syndrome def: "Thyrocerebrorenal syndrome is characterized by renal, neurologic, thyroid disease, associated with thrombocytopenia. It has been described in a brother and his sister. Intelligence was normal. It is transmitted as an autosomal recessive trait." [Orphanet:3327] subset: ordo_malformation_syndrome {source="Orphanet:3327"} synonym: "cutler-Bass-Romshe syndrome" EXACT [Orphanet:3327] synonym: "Thyrocerebral-retinal syndrome" RELATED [GARD:0005203] synonym: "THYROCEREBRORETINAL syndrome" RELATED [OMIM:274240] xref: MESH:C536908 {source="MONDO:equivalentTo"} xref: OMIM:274240 {source="MONDO:equivalentTo", source="Orphanet:3327", source="Orphanet:3327/e"} xref: Orphanet:3327 {source="MONDO:equivalentTo", source="OMIM:274240"} xref: SCTID:733096007 {source="MONDO:equivalentTo"} xref: UMLS:C1848813 {source="MONDO:equivalentTo", source="Orphanet:3327", source="MONDO:ncbi_mim2gene_medline", source="OMIM:274240"} xref: UMLS:C4518579 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: exactMatch http://identifiers.org/mesh/C536908 property_value: exactMatch http://identifiers.org/snomedct/733096007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848813 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518579 property_value: exactMatch https://omim.org/entry/274240 property_value: exactMatch Orphanet:3327 [Term] id: MONDO:0010129 name: thymic-renal-anal-lung dysplasia def: "This syndrome is characterized by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus." [Orphanet:3326] subset: gard_rare {source="GARD:0005202"} subset: ordo_malformation_syndrome {source="Orphanet:3326"} synonym: "syndrome of unilobed or absent thymus, renal and ureter agenesis/dysgenesis, and intrauterine growth retardation (IUGR)" RELATED [GARD:0005202] synonym: "thymic-renal-anal-lung dysplasia" EXACT [OMIM:274265] xref: MESH:C536907 {source="MONDO:equivalentTo", source="Orphanet:3326", source="Orphanet:3326/e"} xref: OMIM:274265 {source="MONDO:equivalentTo", source="Orphanet:3326", source="Orphanet:3326/e"} xref: Orphanet:3326 {source="MONDO:equivalentTo", source="OMIM:274265"} xref: SCTID:723555007 {source="MONDO:equivalentTo"} xref: UMLS:C1848812 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3326", source="OMIM:274265", source="Orphanet:3326/e"} is_a: MONDO:0015161 {source="Orphanet:3326"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability property_value: exactMatch http://identifiers.org/mesh/C536907 property_value: exactMatch http://identifiers.org/snomedct/723555007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848812 property_value: exactMatch https://omim.org/entry/274265 property_value: exactMatch Orphanet:3326 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5202/thymic-renal-anal-lung-dysplasia xsd:anyURI {source="GARD:0005202"} [Term] id: MONDO:0010130 name: dihydropyrimidine dehydrogenase deficiency def: "Dihydropyrimidine dehydrogenase (DPD) deficiency isaconditionin which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signsand symptoms. Signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior. All individuals with the condition, regardless of the presence or severity of symptoms, are at risk for severe, toxic reactions to drugs called fluoropyrimidines which are used to treat cancer. Individuals with no symptoms may be diagnosed only by laboratory testing or after exposure to fluoropyrimidines. DPD deficiency is caused by mutations in the DPYD gene and is inherited in an autosomal recessive manner." [https://rarediseases.info.nih.gov/diseases/19/dihydropyrimidine-dehydrogenase-deficiency] subset: gard_rare {source="GARD:0000019"} subset: ordo_disease {source="Orphanet:1675"} synonym: "dihydropyrimidine dehydrogenase deficiency" EXACT [OMIM:274270] synonym: "dihydrouracil dehydrogenase deficiency" EXACT [DOID:14218, NCIT:C3964] synonym: "DPD deficiency" RELATED [OMIM:274270] synonym: "Dpyd deficiency" RELATED [OMIM:274270] synonym: "DYPD deficiency" EXACT [NCIT:C84672] synonym: "familial pyrimidinaemia" EXACT [DOID:14218] synonym: "familial pyrimidinemia" EXACT [Orphanet:1675] synonym: "hereditary thymine-uraciluria" RELATED [GARD:0000019] synonym: "pyrimidinemia, familial" RELATED [OMIM:274270] synonym: "thymine-uracilurea" EXACT [DOID:14218] synonym: "thymine-Uraciluria, hereditary" RELATED [OMIM:274270] xref: DOID:14218 {source="MONDO:equivalentTo"} xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10052622 {source="Orphanet:1675", source="Orphanet:1675/e"} xref: MESH:D054067 {source="DOID:14218", source="Orphanet:1675", source="MONDO:equivalentTo", source="Orphanet:1675/e"} xref: NCIT:C84672 {source="DOID:14218", source="MONDO:equivalentTo"} xref: OMIM:274270 {source="DOID:14218", source="Orphanet:1675", source="MONDO:equivalentTo", source="Orphanet:1675/e"} xref: Orphanet:1675 {source="OMIM:274270", source="MONDO:equivalentTo"} xref: SCTID:77365006 {source="DOID:14218", source="MONDO:equivalentTo"} xref: UMLS:C1959620 {source="DOID:14218", source="OMIM:274270", source="Orphanet:1675", source="MONDO:equivalentTo", source="NCIT:C84672", source="Orphanet:1675/e"} is_a: MONDO:0018385 ! osteochondrosis of genetic origin is_a: MONDO:0019238 {source="Orphanet:1675"} ! inborn disorder of pyrimidine metabolism property_value: closeMatch http://identifiers.org/meddra/10052622 property_value: exactMatch DOID:14218 property_value: exactMatch http://identifiers.org/mesh/D054067 property_value: exactMatch http://identifiers.org/snomedct/77365006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1959620 property_value: exactMatch https://omim.org/entry/274270 property_value: exactMatch NCIT:C84672 property_value: exactMatch Orphanet:1675 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/19/dihydropyrimidine-dehydrogenase-deficiency xsd:anyURI {source="GARD:0000019"} [Term] id: MONDO:0010132 name: familial thyroid dyshormonogenesis def: "A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis." [Orphanet:95716] subset: ordo_disease {source="Orphanet:95716"} synonym: "dyshormonogenesis" BROAD [NCIT:C121751] synonym: "nongoitrous hyperthyrotropinemia" EXACT [https://orcid.org/0000-0001-7451-4467, https://orcid.org/0000-0002-0736-9199] synonym: "thyroid dyshormonogenesis" EXACT [Orphanet:95716] xref: DOID:0112183 {source="MONDO:equivalentTo"} xref: MESH:C564766 {source="MONDO:equivalentTo"} xref: NCIT:C121751 {source="MONDO:equivalentTo"} xref: Orphanet:95716 {source="MONDO:equivalentTo", source="OMIM:274400"} xref: SCTID:718183003 {source="MONDO:equivalentTo"} xref: UMLS:C1848805 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:274400"} is_a: EFO:0000589 ! metabolic disease is_a: MONDO:0016409 ! primary congenital hypothyroidism property_value: exactMatch DOID:0112183 property_value: exactMatch http://identifiers.org/mesh/C564766 property_value: exactMatch http://identifiers.org/snomedct/718183003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848805 property_value: exactMatch NCIT:C121751 property_value: exactMatch Orphanet:95716 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/642 xsd:anyURI [Term] id: MONDO:0010134 name: Pendred syndrome def: "Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter." [Orphanet:705] subset: clingen subset: ordo_malformation_syndrome {source="Orphanet:705"} synonym: "autosomal recessive sensorineural hearing impairment and goiter" RELATED [GARD:0004271] synonym: "autosomal recessive sensorineural hearing impairment and goitre" RELATED OMO:0003005 [] synonym: "congenital hypothyroidism due to dyshormonogenesis 2B" EXACT [DOID:0060744] synonym: "deafness with goiter" EXACT [DOID:0060744, OMIM:274600] synonym: "deafness with goitre" EXACT OMO:0003005 [] synonym: "genetic defect in thyroid hormonogenesis 2B" EXACT [DOID:0060744] synonym: "goiter-deafness syndrome" EXACT [DOID:0060744, OMIM:274600, Orphanet:705] synonym: "hypothyroidism, congenital, due to dyshormonogenesis, 2B" EXACT [OMIM:274600] synonym: "PDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:274600] synonym: "Pendred syndrome" EXACT [MONDO:Lexical, OMIM:274600] synonym: "TDH2B" EXACT ABBREVIATION [DOID:0060744] synonym: "thyroid dyshormonogenesis 2B" EXACT [DOID:0060744, OMIM:274600] synonym: "thyroid hormonogenesis, genetic defect in, 2B" EXACT [OMIM:274600] xref: DOID:0060744 {source="MONDO:equivalentTo"} xref: MESH:C536648 {source="MONDO:equivalentTo", source="DOID:0060744", source="Orphanet:705", source="Orphanet:705/e"} xref: NCIT:C121745 {source="MONDO:equivalentTo"} xref: OMIM:274600 {source="MONDO:equivalentTo", source="DOID:0060744", source="Orphanet:705", source="Orphanet:705/e"} xref: Orphanet:705 {source="MONDO:equivalentTo", source="DOID:0060744", source="OMIM:274600"} xref: SCTID:70348004 {source="MONDO:equivalentTo"} xref: UMLS:C0271829 {source="NCIT:C121745", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:0060744", source="Orphanet:705", source="OMIM:274600", source="Orphanet:705/e"} is_a: EFO:1000017 {source="DOID:0060744", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015778 {source="MONDO:Redundant", source="Orphanet:705"} ! syndromic hypothyroidism property_value: exactMatch DOID:0060744 property_value: exactMatch http://identifiers.org/mesh/C536648 property_value: exactMatch http://identifiers.org/snomedct/70348004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271829 property_value: exactMatch https://omim.org/entry/274600 property_value: exactMatch NCIT:C121745 property_value: exactMatch Orphanet:705 [Term] id: MONDO:0010139 name: isolated thyroid-stimulating hormone deficiency def: "Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis." [Orphanet:90674] subset: ordo_disease {source="Orphanet:90674"} synonym: "CHNG4" EXACT ABBREVIATION [DOID:0070123, MONDO:Lexical, OMIM:275100] synonym: "congenital nongoitrous hypothryoidism 4" RELATED [DOID:0070123] synonym: "congenital nongoitrous hypothyroidism 4" RELATED [DOID:0070123] synonym: "hypothyroidism, congenital, nongoitrous 4" EXACT [OMIM:275100, OMIM:genemap2] synonym: "hypothyroidism, congenital, nongoitrous, 4" RELATED [MONDO:Lexical, OMIM:275100] synonym: "hypothyroidism, congenital, nongoitrous, type 4" EXACT [MONDORULE:1, OMIM:275100] synonym: "isolated thyrotropin deficiency" EXACT [DOID:0070123, Orphanet:90674] synonym: "isolated TSH deficiency" EXACT [Orphanet:90674] synonym: "pituitary cretinism" RELATED DEPRECATED [OMIM:275100] synonym: "thyroid-stimulating hormone deficiency" RELATED [OMIM:275100] synonym: "thyroid-stimulating hormone, deficiency of" RELATED [GARD:0010129] synonym: "thyrotropin deficiency, isolated" RELATED [OMIM:275100] synonym: "thyrotropin, biologically inactive" RELATED [OMIM:275100] synonym: "TSH deficiency" RELATED [OMIM:275100] xref: DOID:0070123 {source="MONDO:equivalentTo"} xref: OMIM:275100 {source="DOID:0070123", source="MONDO:equivalentTo", source="Orphanet:90674", source="Orphanet:90674/e"} xref: Orphanet:90674 {source="MONDO:equivalentTo", source="OMIM:275100"} xref: UMLS:C0271789 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:275100"} xref: UMLS:C4082174 {source="MONDO:equivalentTo"} is_a: MONDO:0000045 {source="DC-OMIM:275100", source="OMIM:275100"} ! hypothyroidism, congenital, nongoitrous is_a: MONDO:0016410 {source="Orphanet:90674"} ! central congenital hypothyroidism is_a: MONDO:0019824 {source="Orphanet:90674"} ! non-acquired pituitary hormone deficiency property_value: exactMatch DOID:0070123 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271789 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4082174 property_value: exactMatch https://omim.org/entry/275100 property_value: exactMatch Orphanet:90674 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010140 name: isolated thyrotropin-releasing hormone deficiency def: "Hypothyroidism due to dysfunction of the hypothalamus, assumed to result in reduced secretion of thyrotropin- releasing hormone." [NCIT:C121741] subset: ordo_disease {source="Orphanet:238670"} synonym: "hypothalamic hypothyroidism" RELATED [OMIM:275120] synonym: "isolated prothyroliberin deficiency" EXACT [Orphanet:238670] synonym: "isolated protirelin deficiency" EXACT [Orphanet:238670] synonym: "isolated thyroliberin deficiency" EXACT [Orphanet:238670] synonym: "isolated thyrotropin-releasing factor deficiency" EXACT [Orphanet:238670] synonym: "isolated TRF deficiency" EXACT [Orphanet:238670] synonym: "isolated TRH deficiency" EXACT [Orphanet:238670] synonym: "isolated TSH-releasing factor deficiency" EXACT [Orphanet:238670] synonym: "tertiary hypothyroidism" EXACT [NCIT:C121741] synonym: "thyrotropin-releasing hormone deficiency" RELATED [OMIM:275120] synonym: "TRH deficiency" RELATED [OMIM:275120] xref: ICD9:253.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C121741 {source="MONDO:equivalentTo"} xref: OMIM:275120 {source="Orphanet:238670/e", source="MONDO:equivalentTo", source="Orphanet:238670"} xref: Orphanet:238670 {source="MONDO:equivalentTo", source="OMIM:275120"} xref: SCTID:10736002 {source="MONDO:equivalentTo"} is_a: MONDO:0016410 {source="NCIT:C121741", source="Orphanet:238670"} ! central congenital hypothyroidism property_value: exactMatch http://identifiers.org/snomedct/10736002 property_value: exactMatch https://omim.org/entry/275120 property_value: exactMatch NCIT:C121741 property_value: exactMatch Orphanet:238670 [Term] id: MONDO:0010142 name: hypothyroidism due to TSH receptor mutations def: "Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH." [Orphanet:90673] subset: ordo_disease {source="Orphanet:90673"} synonym: "CHNG1" EXACT ABBREVIATION [DOID:0070126, MONDO:Lexical, OMIM:275200] synonym: "congenital nongoitrous hypothryoidism 1" RELATED [DOID:0070126] synonym: "congenital nongoitrous hypothyroidism 1" RELATED [DOID:0070126] synonym: "hypothyroidism due to unresponsiveness to thyrotropin" RELATED [OMIM:275200] synonym: "hypothyroidism, congenital, due to TSH resistance" RELATED [OMIM:275200] synonym: "hypothyroidism, congenital, nongoitrous, 1" RELATED [MONDO:Lexical, OMIM:275200] synonym: "hypothyroidism, congenital, nongoitrous, type 1" EXACT [MONDORULE:1, OMIM:275200] synonym: "hypothyroidism, Nonautoimmune" RELATED [OMIM:275200] synonym: "thyroid-stimulating hormone, resistance to" RELATED [OMIM:275200] synonym: "thyrotropin resistance" RELATED [OMIM:275200] synonym: "TSH resistance" EXACT [DOID:0070126] xref: DOID:0070126 {source="MONDO:equivalentTo"} xref: OMIM:275200 {source="DOID:0070126", source="MONDO:equivalentTo", source="Orphanet:90673", source="Orphanet:90673/e"} xref: Orphanet:90673 {source="MONDO:equivalentTo", source="OMIM:275200"} xref: UMLS:C3493776 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:275200"} xref: UMLS:CN206435 {source="MONDO:equivalentTo"} is_a: MONDO:0000045 {source="DC-OMIM:275200", source="OMIM:275200"} ! hypothyroidism, congenital, nongoitrous is_a: MONDO:0016409 ! primary congenital hypothyroidism property_value: exactMatch DOID:0070126 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3493776 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206435 property_value: exactMatch https://omim.org/entry/275200 property_value: exactMatch Orphanet:90673 [Term] id: MONDO:0010143 name: obsolete lethal restrictive dermopathy property_value: IAO:0000231 IAO:0000229 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4864 xsd:anyURI is_obsolete: true replaced_by: MONDO:0800042 [Term] id: MONDO:0010144 name: tibial hemimelia def: "Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula." [Orphanet:93322] subset: ordo_morphological_anomaly {source="Orphanet:93322"} synonym: "absence of tibia" RELATED [GARD:0008707] synonym: "bilateral absence of the tibia" RELATED [GARD:0008707] synonym: "congenital absence of tibia" EXACT [Orphanet:93322] synonym: "congenital aplasia and dysplasia of the tibia with intact fibula" EXACT [Orphanet:93322] synonym: "congenital longitudinal deficiency of the tibia" EXACT [Orphanet:93322] synonym: "Thm" RELATED [OMIM:275220] synonym: "tibia, absence of" RELATED [OMIM:275220] synonym: "tibial hemimelia" EXACT [OMIM:275220] synonym: "tibial longitudinal meromelia" EXACT [Orphanet:93322] xref: MESH:C535563 {source="MONDO:equivalentTo"} xref: OMIM:275220 {source="Orphanet:93322", source="MONDO:equivalentTo", source="Orphanet:93322/e"} xref: Orphanet:93322 {source="MONDO:equivalentTo", source="OMIM:275220"} xref: SCTID:79177001 {source="MONDO:equivalentTo"} is_a: MONDO:0016240 {source="Orphanet:93322"} ! hemimelia property_value: exactMatch http://identifiers.org/mesh/C535563 property_value: exactMatch http://identifiers.org/snomedct/79177001 property_value: exactMatch https://omim.org/entry/275220 property_value: exactMatch Orphanet:93322 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0010149 name: transcobalamin II deficiency def: "Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia." [Orphanet:859] subset: ordo_disease {source="Orphanet:859"} synonym: "inherited deficiency of transcobalamin" EXACT [Orphanet:859] synonym: "TC 2 deficiency" RELATED [OMIM:275350] synonym: "TCN2 deficiency" EXACT [DOID:0050818] synonym: "Tcn2 deficiency" RELATED [OMIM:275350] synonym: "transcobalamin 2 deficiency" RELATED [OMIM:275350] synonym: "transcobalamin deficiency" RELATED [Orphanet:859] synonym: "transcobalamin II deficiency" EXACT [OMIM:275350, Orphanet:859] xref: DOID:0050818 {source="MONDO:equivalentTo"} xref: ICD10CM:D51.2 {source="MONDO:equivalentTo", source="Orphanet:859", source="Orphanet:859/attributed", source="Orphanet:859/ntbt"} xref: NCIT:C142806 {source="MONDO:equivalentTo"} xref: OMIM:275350 {source="MONDO:equivalentTo", source="Orphanet:859", source="DOID:0050818", source="Orphanet:859/e"} xref: Orphanet:859 {source="OMIM:275350", source="MONDO:equivalentTo"} xref: SCTID:237934001 {source="MONDO:equivalentTo"} xref: UMLS:C0342701 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:859", source="Orphanet:859/e"} is_a: MONDO:0000424 {source="DOID:0050818", source="MONDO:Redundant", source="OMIM:275350"} ! inborn vitamin B12 deficiency is_a: MONDO:0015823 ! primary immunodeficiency due to a defect in adaptive immunity is_a: MONDO:0016624 ! inherited deficiency anemia is_a: MONDO:0019220 {source="Orphanet:859"} ! inborn disorder of cobalamin metabolism and transport property_value: exactMatch DOID:0050818 property_value: exactMatch http://identifiers.org/snomedct/237934001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342701 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D51.2 property_value: exactMatch https://omim.org/entry/275350 property_value: exactMatch NCIT:C142806 property_value: exactMatch Orphanet:859 [Term] id: MONDO:0010152 name: trichomegaly-retina pigmentary degeneration-dwarfism syndrome def: "Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability." [Orphanet:3363] subset: ordo_malformation_syndrome {source="Orphanet:3363"} synonym: "eyelashes, long with intellectual disability" RELATED [GARD:0005266] synonym: "eyelashes, long, with intellectual disability" RELATED [OMIM:275400] synonym: "eyelashes, long, with mental retardation" RELATED DEPRECATED [OMIM:275400] synonym: "long eyelashes-intellectual disability syndrome" EXACT [Orphanet:3363] synonym: "Oliver McFarlane syndrome" RELATED [GARD:0005266] synonym: "Oliver-McFarlane syndrome" EXACT [MONDO:Lexical, OMIM:275400, Orphanet:3363] synonym: "OMCS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:275400] synonym: "trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina" RELATED [GARD:0005266] synonym: "trichomegaly with intellectual disability, dwarfism, and pigmentary Degeneration of retina" RELATED [OMIM:275400] synonym: "trichomegaly with mental retardation, dwarfism, and pigmentary Degeneration of retina" RELATED DEPRECATED [OMIM:275400] xref: DOID:0111271 {source="MONDO:equivalentTo"} xref: MESH:C536554 {source="MONDO:equivalentTo"} xref: OMIM:275400 {source="Orphanet:3363/e", source="MONDO:equivalentTo", source="Orphanet:3363"} xref: Orphanet:3363 {source="MONDO:equivalentTo", source="OMIM:275400"} xref: SCTID:719944006 {source="MONDO:equivalentTo"} xref: UMLS:C1848745 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:275400", source="Orphanet:3363"} is_a: MONDO:0019287 {source="Orphanet:3363"} ! ectodermal dysplasia syndrome property_value: exactMatch DOID:0111271 property_value: exactMatch http://identifiers.org/mesh/C536554 property_value: exactMatch http://identifiers.org/snomedct/719944006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848745 property_value: exactMatch https://omim.org/entry/275400 property_value: exactMatch Orphanet:3363 [Term] id: MONDO:0010153 name: trichoodontoonychial dysplasia def: "Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983." [Orphanet:3355] subset: gard_rare {source="GARD:0005267"} subset: ordo_malformation_syndrome {source="Orphanet:3355"} synonym: "trichoodontoonychial dysplasia with bone deficiency" RELATED [OMIM:275450] synonym: "trichoodontoonychial dysplasia with bone deficiency in frontoparietal region" EXACT [Orphanet:3355] xref: MESH:C564760 {source="MONDO:equivalentTo"} xref: OMIM:275450 {source="Orphanet:3355", source="MONDO:equivalentTo", source="Orphanet:3355/e"} xref: Orphanet:3355 {source="MONDO:equivalentTo", source="OMIM:275450"} xref: SCTID:766813000 {source="MONDO:equivalentTo"} xref: UMLS:C3502453 {source="Orphanet:3355", source="MONDO:equivalentTo"} is_a: MONDO:0019287 {source="MESH:C564760", source="Orphanet:3355"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C564760 property_value: exactMatch http://identifiers.org/snomedct/766813000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3502453 property_value: exactMatch https://omim.org/entry/275450 property_value: exactMatch Orphanet:3355 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5267/trichoodontoonychial-dysplasia xsd:anyURI {source="GARD:0005267"} [Term] id: MONDO:0010154 name: trigonocephaly-bifid nose-acral anomalies syndrome def: "Trigonocephaly-bifid nose-acral anomalies syndrome is characterized by trigonocephaly, brachycephaly, bulbous nose (bifid at the tip), micrognathia, macrostomia, hypotonia and relatively broad metatarsals and phalanges." [Orphanet:3368] subset: ordo_malformation_syndrome {source="Orphanet:3368"} synonym: "trigonobrachycephaly, bulbous bifid nose, macrostomia, micrognathia, acral anomalies, and hypotonia" RELATED [GARD:0005126] synonym: "trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet" RELATED [OMIM:275595] synonym: "trigonocephaly - bifid nose - acral anomalies" RELATED [GARD:0005126] xref: MESH:C564759 {source="MONDO:equivalentTo"} xref: OMIM:275595 {source="Orphanet:3368", source="MONDO:equivalentTo", source="Orphanet:3368/e"} xref: Orphanet:3368 {source="MONDO:equivalentTo", source="OMIM:275595"} xref: UMLS:C1848743 {source="Orphanet:3368", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:275595"} is_a: MONDO:0015161 {source="Orphanet:3368"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C564759 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848743 property_value: exactMatch https://omim.org/entry/275595 property_value: exactMatch Orphanet:3368 [Term] id: MONDO:0010155 name: Dorfman-Chanarin disease subset: ordo_disease {source="Orphanet:98907"} synonym: "CDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:275630] synonym: "Chanarin-Dorfman disease" RELATED [OMIM:275630] synonym: "Chanarin-Dorfman syndrome" EXACT [DOID:0050729, MONDO:Lexical, OMIM:275630] synonym: "DCs" RELATED [GARD:0003979] synonym: "disorder of cornification 12 (neutral lipid storage type)" RELATED [GARD:0003979] synonym: "Dorfman Chanarin syndrome" RELATED [GARD:0003979] synonym: "Dorfman-Chanarin syndrome" RELATED [OMIM:275630] synonym: "ichthyosiform erythroderma with leukocyte vacuolation" RELATED [OMIM:275630] synonym: "ichthyotic neutral Lipid storage disease" RELATED [OMIM:275630] synonym: "neutral Lipid storage disease with ichthyosis" RELATED [OMIM:275630] synonym: "neutral lipid storage disease with ichthyosis" EXACT [Orphanet:98907] synonym: "neutral lipid storage disease with ichthyotic" RELATED [GARD:0003979] synonym: "NLSDI" EXACT ABBREVIATION [Orphanet:98907] synonym: "triglyceride storage disease with impaired long-chain fatty acid oxidation" RELATED [OMIM:275630] xref: OMIM:275630 {source="Orphanet:98907/e", source="MONDO:equivalentTo", source="Orphanet:98907", source="DOID:0050729"} xref: Orphanet:98907 {source="MONDO:equivalentTo", source="OMIM:275630"} xref: SCTID:19604005 {source="MONDO:equivalentTo"} is_a: MONDO:0015611 {source="Orphanet:98907", source="https://orcid.org/0000-0001-5208-3432"} ! neutral lipid storage disease property_value: exactMatch http://identifiers.org/snomedct/19604005 property_value: exactMatch https://omim.org/entry/275630 property_value: exactMatch Orphanet:98907 property_value: excluded_subClassOf MONDO:0017270 [Term] id: MONDO:0010156 name: Troyer syndrome def: "Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin." [Orphanet:101000] subset: gard_rare {source="GARD:0005372"} subset: ordo_disease {source="Orphanet:101000"} synonym: "autosomal recessive spastic paraplegia 20" EXACT [DOID:0050886] synonym: "autosomal recessive spastic paraplegia Troyer type" EXACT [DOID:0050886] synonym: "autosomal recessive spastic paraplegia type 20" EXACT [DOID:0050886] synonym: "childhood-onset spastic paraparesis with distal muscle wasting" EXACT [DOID:0050886] synonym: "childhood-onset spastic paraparesis-distal muscle wasting syndrome" EXACT [Orphanet:101000] synonym: "Cross-McKusick syndrome" RELATED [GARD:0005372] synonym: "hereditary spastic paraplegia 20" EXACT [DOID:0050886] synonym: "spastic paraparesis, childhood-onset, with distal muscle wasting" RELATED [OMIM:275900] synonym: "spastic paraplegia 20" RELATED [GARD:0005372] synonym: "spastic paraplegia 20 (Troyer syndrome)" EXACT [DOID:0050886] synonym: "spastic paraplegia 20, autosomal recessive" RELATED [GARD:0005372, MONDO:Lexical, OMIM:275900] synonym: "spastic paraplegia type 20" EXACT [DOID:0050886] synonym: "spastic paraplegia, autosomal recessive, Troyer type" RELATED [OMIM:275900] synonym: "SPG20" EXACT ABBREVIATION [DOID:0050886, MONDO:Lexical, OMIM:275900, Orphanet:101000] synonym: "Troyer syndrome" EXACT [OMIM:275900, Orphanet:101000] xref: DOID:0050886 {source="MONDO:equivalentTo"} xref: ICD9:335.29 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536858 {source="MONDO:equivalentTo"} xref: OMIM:275900 {source="Orphanet:101000", source="MONDO:equivalentTo", source="DOID:0050886", source="Orphanet:101000/e"} xref: Orphanet:101000 {source="OMIM:275900", source="MONDO:equivalentTo", source="DOID:0050886"} xref: SCTID:230264003 {source="MONDO:equivalentTo"} xref: UMLS:C0393559 {source="OMIM:275900", source="Orphanet:101000", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015089 {source="Orphanet:101000"} ! autosomal recessive complex spastic paraplegia property_value: exactMatch DOID:0050886 property_value: exactMatch http://identifiers.org/mesh/C536858 property_value: exactMatch http://identifiers.org/snomedct/230264003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393559 property_value: exactMatch https://omim.org/entry/275900 property_value: exactMatch Orphanet:101000 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5372/troyer-syndrome xsd:anyURI {source="GARD:0005372"} [Term] id: MONDO:0010159 name: mismatch repair cancer syndrome 1 def: "A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1." [NCIT:P378] subset: ordo_disease {source="Orphanet:252202"} synonym: "brain tumor-polyposis syndrome" RELATED [GARD:0000420] synonym: "brain tumor-polyposis syndrome 1" EXACT [OMIM:276300] synonym: "BTP1 syndrome" EXACT [OMIM:276300] synonym: "childhood cancer syndrome" RELATED [OMIM:276300] synonym: "CMMR-D" EXACT [NCIT:C130202] synonym: "CMMR-D syndrome" EXACT [Orphanet:252202] synonym: "CNS tumors with familial polyposis of the colon" RELATED [GARD:0000420] synonym: "CNS tumours with familial polyposis of the colon" RELATED OMO:0003005 [] synonym: "constitutional MIS-match repair deficiency syndrome" EXACT [NCIT:C130202] synonym: "constitutional mismatch repair deficiency syndrome" EXACT [NCIT:C130202, OMIM:276300] synonym: "glioma-polyposis syndrome" RELATED [GARD:0000420] synonym: "malignant tumors of the central nervous system associated with familial polyposis of the colon" RELATED [GARD:0000420] synonym: "malignant tumours of the central nervous system associated with familial polyposis of the colon" RELATED OMO:0003005 [] synonym: "mismatch repair cancer syndrome" RELATED [MONDO:Lexical, OMIM:276300] synonym: "mismatch repair cancer syndrome 1" EXACT [] synonym: "mismatch repair deficiency" RELATED [OMIM:276300] synonym: "MMR deficiency" RELATED [OMIM:276300] synonym: "MMRCS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:276300] synonym: "MMRCS1" EXACT ABBREVIATION [OMIM:276300] synonym: "Turcot syndrome" RELATED [OMIM:276300] xref: MESH:C536928 {source="MONDO:equivalentTo"} xref: NCIT:C130202 {source="MONDO:equivalentTo"} xref: OMIM:276300 {source="MONDO:equivalentTo", source="Orphanet:252202", source="Orphanet:252202/e"} xref: Orphanet:252202 {source="MONDO:equivalentTo", source="OMIM:276300"} xref: SCTID:61665008 {source="MONDO:equivalentTo"} xref: UMLS:C0265325 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:276300"} xref: UMLS:C4321324 {source="MONDO:equivalentTo"} is_a: MONDO:0015356 {source="MESH:C536928", source="NCIT:C130202", source="Orphanet:252202"} ! hereditary neoplastic syndrome is_a: MONDO:0016756 {source="Orphanet:252202"} ! inherited nervous system cancer-predisposing syndrome is_a: MONDO:0031219 {source="https://orcid.org/0000-0001-5208-3432"} ! mismatch repair cancer syndrome property_value: exactMatch http://identifiers.org/mesh/C536928 property_value: exactMatch http://identifiers.org/snomedct/61665008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265325 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4321324 property_value: exactMatch https://omim.org/entry/276300 property_value: exactMatch NCIT:C130202 property_value: exactMatch Orphanet:252202 property_value: excluded_subClassOf MONDO:0018040 {source="Orphanet:252202", source="https://github.com/monarch-initiative/mondo/issues/1583"} property_value: excluded_subClassOf MONDO:0021190 {source="https://github.com/monarch-initiative/mondo/issues/1583"} [Term] id: MONDO:0010160 name: tyrosinemia type II def: "Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." [Orphanet:28378] subset: gard_rare {source="GARD:0003105"} subset: ordo_disease {source="Orphanet:28378"} synonym: "keratosis palmoplantaris with corneal dystrophy" RELATED [OMIM:276600] synonym: "keratosis palmoplantaris-corneal dystrophy syndrome" EXACT [Orphanet:28378] synonym: "oculocutaneous tyrosinemia" EXACT [DOID:0050725, Orphanet:28378] synonym: "Oregon type tyrosinemia" RELATED [OMIM:276600] synonym: "Richner Hanhart syndrome" RELATED [GARD:0003105] synonym: "Richner-Hanhart syndrome" EXACT [DOID:0050725, OMIM:276600, Orphanet:28378] synonym: "Tat deficiency" RELATED [OMIM:276600] synonym: "tyrosine aminotransferase deficiency" RELATED [OMIM:276600] synonym: "tyrosine transaminase deficiency" RELATED [OMIM:276600] synonym: "tyrosinemia due to TAT deficiency" EXACT [Orphanet:28378] synonym: "tyrosinemia due to tyrosine aminotransferase deficiency" EXACT [Orphanet:28378] synonym: "tyrosinemia type 2" RELATED [GARD:0003105] synonym: "tyrosinemia type II" EXACT [Orphanet:28378] synonym: "tyrosinemia, type 2" RELATED [OMIM:276600] synonym: "tyrosinemia, type II" RELATED [MONDO:Lexical, OMIM:276600] synonym: "Tyrosinosis oculocutaneous type" RELATED [GARD:0003105] synonym: "Tyrosinosis, oculocutaneous type" RELATED [OMIM:276600] synonym: "TYRSN2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:276600] xref: DOID:0050725 {source="MONDO:equivalentTo"} xref: MedDRA:10069463 {source="Orphanet:28378/e", source="Orphanet:28378"} xref: NCIT:C129032 {source="MONDO:equivalentTo"} xref: OMIM:276600 {source="Orphanet:28378/e", source="MONDO:equivalentTo", source="DOID:0050725", source="Orphanet:28378"} xref: Orphanet:28378 {source="MONDO:equivalentTo", source="OMIM:276600"} xref: SCTID:4887000 {source="MONDO:equivalentTo"} is_a: EFO:0003966 ! eye disease is_a: MONDO:0004741 {source="DC-OMIM:276600", source="DOID:0050725", source="NCIT:C129032", source="OMIM:276600"} ! tyrosinemia is_a: MONDO:0017672 {source="MONDO:0020097-obsoleted"} ! focal palmoplantar keratoderma property_value: closeMatch http://identifiers.org/meddra/10069463 property_value: exactMatch DOID:0050725 property_value: exactMatch http://identifiers.org/snomedct/4887000 property_value: exactMatch https://omim.org/entry/276600 property_value: exactMatch NCIT:C129032 property_value: exactMatch Orphanet:28378 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3105/tyrosinemia-type-2 xsd:anyURI {source="GARD:0003105"} [Term] id: MONDO:0010161 name: tyrosinemia type I def: "Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone." [Orphanet:882] subset: gard_rare {source="GARD:0002658"} subset: ordo_disease {source="Orphanet:882"} synonym: "FAH deficiency" EXACT [Orphanet:882] synonym: "Fah deficiency" RELATED [OMIM:276700] synonym: "fumarylacetoacetase deficiency" EXACT [OMIM:276700, Orphanet:882] synonym: "fumarylacetoacetate hydrolase deficiency" EXACT [Orphanet:882] synonym: "hepatorenal tyrosinemia" EXACT [DOID:0050726, OMIM:276700, Orphanet:882] synonym: "type I tyrosinemia" EXACT [NCIT:C98641] synonym: "tyrosinemia type 1" RELATED [GARD:0002658] synonym: "tyrosinemia type I" EXACT [Orphanet:882] synonym: "tyrosinemia, type 1" RELATED [OMIM:276700] synonym: "tyrosinemia, type I" RELATED [MONDO:Lexical, OMIM:276700] synonym: "TYRSN1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:276700] xref: DOID:0050726 {source="MONDO:equivalentTo"} xref: MedDRA:10069462 {source="Orphanet:882/e", source="Orphanet:882"} xref: NCIT:C98641 {source="MONDO:equivalentTo"} xref: OMIM:276700 {source="Orphanet:882/e", source="MONDO:equivalentTo", source="DOID:0050726", source="Orphanet:882"} xref: Orphanet:882 {source="MONDO:equivalentTo", source="OMIM:276700"} xref: SCTID:410056006 {source="MONDO:equivalentTo"} xref: UMLS:C0268490 {source="Orphanet:882/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C98641", source="Orphanet:882"} is_a: MONDO:0004741 {source="DC-OMIM:276700", source="DOID:0050726", source="NCIT:C98641", source="OMIM:276700"} ! tyrosinemia relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare property_value: closeMatch http://identifiers.org/meddra/10069462 property_value: exactMatch DOID:0050726 property_value: exactMatch http://identifiers.org/snomedct/410056006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268490 property_value: exactMatch https://omim.org/entry/276700 property_value: exactMatch NCIT:C98641 property_value: exactMatch Orphanet:882 property_value: excluded_subClassOf MONDO:0019743 {source="Orphanet:882"} property_value: excluded_subClassOf MONDO:0020127 {source="MONDO:0016133-obsoleted"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2658/tyrosinemia-type-1 xsd:anyURI {source="GARD:0002658"} [Term] id: MONDO:0010162 name: tyrosinemia type III def: "Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterized by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate." [Orphanet:69723] subset: gard_rare {source="GARD:0010332"} subset: ordo_disease {source="Orphanet:69723"} synonym: "4-alpha hydroxyphenylpyruvate dioxygenase deficiency" RELATED [GARD:0010332] synonym: "4-alpha hydroxyphenylpyruvic acid oxidase deficiency" RELATED [GARD:0010332] synonym: "4-Hydroxyphenylpyruvate dioxygenase deficiency" RELATED [OMIM:276710] synonym: "4-Hydroxyphenylpyruvic acid oxidase deficiency" RELATED [OMIM:276710] synonym: "tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency" EXACT [Orphanet:69723] synonym: "tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency" EXACT [Orphanet:69723] synonym: "tyrosinemia due to HPD deficiency" EXACT [Orphanet:69723] synonym: "tyrosinemia type 3" RELATED [GARD:0010332] synonym: "tyrosinemia type III" EXACT [Orphanet:69723] synonym: "tyrosinemia, type 3" RELATED [OMIM:276710] synonym: "tyrosinemia, type III" RELATED [MONDO:Lexical, OMIM:276710] synonym: "TYRSN3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:276710] xref: DOID:0050727 {source="MONDO:equivalentTo"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10069461 {source="Orphanet:69723", source="Orphanet:69723/e"} xref: OMIM:276710 {source="Orphanet:69723", source="MONDO:equivalentTo", source="Orphanet:69723/e", source="DOID:0050727"} xref: Orphanet:69723 {source="MONDO:equivalentTo", source="OMIM:276710"} xref: SCTID:415764005 {source="MONDO:equivalentTo"} xref: UMLS:C0268623 {source="Orphanet:69723", source="MONDO:equivalentTo", source="Orphanet:69723/e", source="MONDO:ncbi_mim2gene_medline", source="OMIM:276710"} is_a: MONDO:0004741 {source="DC-OMIM:276710", source="DOID:0050727", source="OMIM:276710"} ! tyrosinemia property_value: closeMatch http://identifiers.org/meddra/10069461 property_value: exactMatch DOID:0050727 property_value: exactMatch http://identifiers.org/snomedct/415764005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268623 property_value: exactMatch https://omim.org/entry/276710 property_value: exactMatch Orphanet:69723 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10332/tyrosinemia-type-3 xsd:anyURI {source="GARD:0010332"} [Term] id: MONDO:0010164 name: phocomelia, Schinzel type def: "Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder." [Orphanet:2879] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2879"} synonym: "AARRS" RELATED ABBREVIATION [GARD:0009212] synonym: "absence of ulna and fibula with severe limb deficiency" RELATED [GARD:0009212] synonym: "Al Awadi Teebi Farag syndrome" RELATED [GARD:0005124] synonym: "Al Awadi-Raas-Rothschild syndrome" EXACT [Orphanet:2879] synonym: "Al-Awadi-Raas-Rothschild syndrome" RELATED [GARD:0009212] synonym: "Al-Awadi/Raas-Rothschild syndrome" RELATED [OMIM:276820] synonym: "Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome" RELATED [GARD:0009212] synonym: "aplasia/hypoplasia of limbs and pelvis" EXACT [Orphanet:2879] synonym: "congenital absence of ulna and fibula" EXACT [Orphanet:2879] synonym: "limb/pelvis-hypoplasia/aplasia syndrome" RELATED [OMIM:276820] synonym: "profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence" RELATED [GARD:0005124] synonym: "Schinzel phocomelia syndrome" RELATED [OMIM:276820] synonym: "severe limb deficit" EXACT [Orphanet:2879] synonym: "Teebi Naguib Al Awadi syndrome" RELATED [GARD:0005124] synonym: "ulna and fibula absence of with severe limb deficiency" RELATED [GARD:0009212] synonym: "ulna and fibula, absence of, with severe limb deficiency" RELATED [OMIM:276820] xref: DOID:0112181 {source="MONDO:equivalentTo"} xref: MESH:C535612 {source="MONDO:equivalentTo"} xref: OMIM:276820 {source="Orphanet:2879/e", source="MONDO:equivalentTo", source="Orphanet:2879", source="GARD:0005124"} xref: Orphanet:2879 {source="MONDO:equivalentTo", source="OMIM:276820"} xref: SCTID:715522000 {source="MONDO:equivalentTo"} is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect property_value: exactMatch DOID:0112181 property_value: exactMatch http://identifiers.org/mesh/C535612 property_value: exactMatch http://identifiers.org/snomedct/715522000 property_value: exactMatch https://omim.org/entry/276820 property_value: exactMatch Orphanet:2879 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0010165 name: ulna hypoplasia-intellectual disability syndrome def: "Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation." [Orphanet:2249] subset: ordo_malformation_syndrome {source="Orphanet:2249"} synonym: "bilateral ulnar hypoplasia and intellectual disability" RELATED [GARD:0005398] synonym: "bilateral ulnar hypoplasia and mental retardation" RELATED DEPRECATED [GARD:0005398] synonym: "mesomelia of the upper limbs, absent nails, clubfeet, and intellectual disability" RELATED [GARD:0005398] synonym: "mesomelia of the upper limbs, absent nails, clubfeet, and mental retardation" RELATED DEPRECATED [GARD:0005398] synonym: "mesomelia of the upper limbs, anonychia congenita, clubfeet, and intellectual disability" RELATED [OMIM:276821] synonym: "mesomelia of the upper limbs, anonychia congenita, clubfeet, and mental retardation" RELATED DEPRECATED [OMIM:276821] synonym: "ulna hypoplasia with intellectual disability" RELATED [GARD:0005398] synonym: "ulna hypoplasia with mental retardation" RELATED DEPRECATED [GARD:0005398] synonym: "ulnar hypoplasia with intellectual disability" RELATED [OMIM:276821] synonym: "ulnar hypoplasia with mental retardation" RELATED DEPRECATED [OMIM:276821] xref: MESH:C564757 {source="MONDO:equivalentTo"} xref: OMIM:276821 {source="MONDO:equivalentTo", source="Orphanet:2249", source="Orphanet:2249/e"} xref: Orphanet:2249 {source="MONDO:equivalentTo", source="OMIM:276821"} xref: UMLS:C1848650 {source="MONDO:equivalentTo", source="Orphanet:2249", source="MONDO:ncbi_mim2gene_medline", source="OMIM:276821"} xref: UMLS:C2931370 {source="MONDO:equivalentTo", source="Orphanet:2249", source="Orphanet:2249/e"} is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation property_value: exactMatch http://identifiers.org/mesh/C564757 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848650 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931370 property_value: exactMatch https://omim.org/entry/276821 property_value: exactMatch Orphanet:2249 [Term] id: MONDO:0010167 name: urocanic aciduria def: "Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date." [Orphanet:210128] subset: ordo_disease {source="Orphanet:210128"} synonym: "encephalopathy due to urocanase deficiency" EXACT [Orphanet:210128] synonym: "urocanase deficiency" RELATED [MONDO:Lexical, OMIM:276880] synonym: "urocanic aciduria" EXACT [MONDO:ambiguous] synonym: "urocanic aciduria (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "UROCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:276880] xref: DOID:0112180 {source="MONDO:equivalentTo"} xref: HP:0012237 {source="MONDO:otherHierarchy"} xref: MESH:C536479 {source="MONDO:equivalentTo"} xref: OMIM:276880 {source="MONDO:equivalentTo", source="Orphanet:210128", source="Orphanet:210128/e"} xref: Orphanet:210128 {source="MONDO:equivalentTo", source="OMIM:276880"} xref: SCTID:60952007 {source="MONDO:equivalentTo"} xref: UMLS:C0268514 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:276880", source="Orphanet:210128"} is_a: MONDO:0019228 {source="Orphanet:210128", source="PMID:33340416"} ! inborn disorder of histidine metabolism property_value: exactMatch DOID:0112180 property_value: exactMatch http://identifiers.org/mesh/C536479 property_value: exactMatch http://identifiers.org/snomedct/60952007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268514 property_value: exactMatch https://omim.org/entry/276880 property_value: exactMatch Orphanet:210128 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: IAO:0000589 "urocanic aciduria (disease)" xsd:string [Term] id: MONDO:0010168 name: Usher syndrome type 1 def: "A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa." [NCIT:C126327] subset: clingen subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:231169"} synonym: "retinitis pigmentosa and congenital deafness" EXACT [OMIM:276900] synonym: "US1" EXACT ABBREVIATION [DOID:0110826, OMIM:276900] synonym: "USH1" EXACT ABBREVIATION [DOID:0110826, MONDO:Lexical, OMIM:276900, Orphanet:231169] synonym: "USH1A" RELATED ABBREVIATION [GARD:0005435] synonym: "Usher syndrome type 1" EXACT [] synonym: "Usher syndrome, type 1" EXACT [GARD:0005435, OMIM:276900] synonym: "Usher syndrome, type 1A" RELATED [GARD:0005435] synonym: "Usher syndrome, type 1B" RELATED [OMIM:276900] synonym: "USHER syndrome, type I" RELATED [MONDO:Lexical, OMIM:276900] synonym: "Usher syndrome, type I, French variety" RELATED [OMIM:276900] synonym: "Usher syndrome, type I, French variety, formerly" RELATED [OMIM:276900] synonym: "Usher syndrome, type Ia" RELATED [OMIM:276900] synonym: "Usher syndrome, type Ia, formerly" RELATED [OMIM:276900] xref: DOID:0110826 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110826", source="Orphanet:231169", source="Orphanet:231169/attributed", source="Orphanet:231169/ntbt"} xref: NCIT:C126327 {source="MONDO:equivalentTo"} xref: Orphanet:231169 {source="DOID:0110826", source="MONDO:equivalentTo", source="OMIM:276900"} xref: SCTID:232057003 {source="MONDO:equivalentTo"} is_a: MONDO:0019501 {source="DC-OMIM:276900", source="DOID:0110826", source="NCIT:C126327", source="OMIM:276900", source="Orphanet:231169"} ! Usher syndrome property_value: exactMatch DOID:0110826 property_value: exactMatch http://identifiers.org/snomedct/232057003 property_value: exactMatch NCIT:C126327 property_value: exactMatch Orphanet:231169 [Term] id: MONDO:0010169 name: Usher syndrome type 2A def: "Any Usher syndrome in which the cause of the disease is a mutation in the USH2A gene." [MONDO:patterns/disease_series_by_gene] synonym: "retinal disease in usher syndrome type IIA, modifier of" EXACT [OMIM:276901, OMIM:genemap2] synonym: "US2" RELATED ABBREVIATION [GARD:0005440] synonym: "USH2A" EXACT ABBREVIATION [DOID:0110838, MONDO:Lexical, OMIM:276901] synonym: "USH2A Usher syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Usher syndrome caused by mutation in USH2A" EXACT [MONDO:design_pattern] synonym: "Usher syndrome type 2A" EXACT [] synonym: "Usher syndrome type IIA" EXACT [DOID:0110838] synonym: "Usher syndrome, type 2A" RELATED [OMIM:276901] synonym: "USHER syndrome, type IIA" RELATED [MONDO:Lexical, OMIM:276901] xref: DOID:0110838 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110838"} xref: MESH:C536490 {source="MONDO:equivalentTo"} xref: OMIM:276901 {source="MONDO:equivalentTo", source="DOID:0110838"} xref: UMLS:C1848634 {source="OMIM:276901", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0016484 {source="DOID:0110838"} ! Usher syndrome type 2 property_value: exactMatch DOID:0110838 property_value: exactMatch http://identifiers.org/mesh/C536490 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848634 property_value: exactMatch https://omim.org/entry/276901 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010171 name: Usher syndrome type 1C def: "A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding harmonin on chromosome 11p15. It is inherited in an autosomal recessive manner." [OMIM:276904] subset: gard_rare {source="GARD:0005437"} synonym: "USH1C" EXACT ABBREVIATION [DOID:0110830, MONDO:Lexical, OMIM:276904] synonym: "Usher syndrome type 1C" EXACT [] synonym: "Usher syndrome type I Acadian variety" EXACT [DOID:0110830] synonym: "Usher syndrome type IC" EXACT [DOID:0110830] synonym: "Usher syndrome, Acadian variety" RELATED [GARD:0005437] synonym: "Usher syndrome, type 1C" RELATED [GARD:0005437] synonym: "Usher syndrome, type I, Acadian variety" RELATED [OMIM:276904] synonym: "USHER syndrome, type IC" RELATED [MONDO:Lexical, OMIM:276904] xref: DOID:0110830 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.5 {source="DOID:0110830", source="MONDO:relatedTo"} xref: OMIM:276904 {source="DOID:0110830", source="MONDO:equivalentTo"} xref: UMLS:C1848604 {source="OMIM:276904", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0010168 {source="Orphanet:231169"} ! Usher syndrome type 1 property_value: exactMatch DOID:0110830 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848604 property_value: exactMatch https://omim.org/entry/276904 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5437/usher-syndrome-type-1c xsd:anyURI {source="GARD:0005437"} [Term] id: MONDO:0010172 name: VACTERL with hydrocephalus def: "VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association." [Orphanet:3412] subset: ordo_malformation_syndrome {source="Orphanet:3412"} synonym: "Sujansky-Leonard syndrome" EXACT [Orphanet:3412] synonym: "VACTERL association with hydrocephalus" RELATED [OMIM:276950] synonym: "VACTERL association with hydrocephaly" RELATED [GARD:0000272] synonym: "VACTERL hydrocephaly" RELATED [GARD:0000272] synonym: "VACTERL-H" RELATED [OMIM:276950] synonym: "Vater association with hydrocephalus" RELATED [OMIM:276950] synonym: "Vater association with macrocephaly and ventriculomegaly" RELATED [OMIM:276950] synonym: "vertebral (V), anal (A), cardiac (C), tracheoesophageal (te), renal (R) and limb (L) anomalies and hydrocephaly" RELATED [GARD:0000272] xref: OMIM:276950 {source="Orphanet:3412", source="MONDO:equivalentTo", source="Orphanet:3412/e"} xref: Orphanet:3412 {source="MONDO:equivalentTo", source="OMIM:276950"} xref: UMLS:C1848599 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:276950"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: disease_shares_features_of MONDO:0008642 ! VACTERL/vater association property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848599 property_value: exactMatch https://omim.org/entry/276950 property_value: exactMatch Orphanet:3412 property_value: excluded_subClassOf MONDO:0015159 {source="Orphanet:3412"} property_value: excluded_subClassOf MONDO:0015246 {source="Orphanet:3412"} property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:3412"} [Term] id: MONDO:0010173 name: Mayer-Rokitansky-Kuster-Hauser syndrome type 1 def: "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females." [Orphanet:247775] subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:247775"} synonym: "congenital absence of the uterus and vagina (CAUV)" RELATED [GARD:0007100] synonym: "congenital absence of uterus and vagina" EXACT [GARD:0007100, OMIM:277000, Orphanet:247775] synonym: "genital renal ear syndrome" RELATED [GARD:0007100] synonym: "Mayer-Rokitansky-KUSTER-Hauser syndrome" RELATED [OMIM:277000] synonym: "Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH)" RELATED [GARD:0007100] synonym: "Mayer-Rokitansky-Küster-Hauser syndrome type 1" RELATED [Orphanet:247775] synonym: "Mrk anomaly" RELATED [OMIM:277000] synonym: "MRKH anomaly" RELATED [OMIM:277000] synonym: "MRKH syndrome" RELATED [GARD:0007100, OMIM:277000] synonym: "MRKH syndrome type 1" EXACT [Orphanet:247775] synonym: "Mullerian aplasia/dysgenesis" RELATED [OMIM:277000] synonym: "Mullerian dysgenesis" RELATED [GARD:0007100] synonym: "Müllerian agenesis" RELATED [GARD:0007100] synonym: "Rokitansky sequence" EXACT [Orphanet:247775] synonym: "Rokitansky syndrome" RELATED [GARD:0007100] synonym: "urogenital adysplasia" RELATED [OMIM:277000] synonym: "uterus Bipartitus solidus Rudimentarius cum vagina Solida" RELATED [OMIM:277000] synonym: "Von Mayer-Rokitansky-Kuster anomaly" RELATED [OMIM:277000] xref: DOID:0112178 {source="MONDO:equivalentTo"} xref: ICD9:752.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:277000 {source="Orphanet:247775", source="MONDO:equivalentTo", source="Orphanet:247775/e", source="GARD:0007100"} xref: Orphanet:247775 {source="OMIM:277000", source="MONDO:equivalentTo"} xref: SCTID:8793008 {source="MONDO:equivalentTo"} is_a: MONDO:0017771 {source="Orphanet:247775"} ! Mayer-Rokitansky-Kuster-Hauser syndrome property_value: exactMatch DOID:0112178 property_value: exactMatch http://identifiers.org/snomedct/8793008 property_value: exactMatch https://omim.org/entry/277000 property_value: exactMatch Orphanet:247775 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7100/mullerian-aplasia xsd:anyURI {source="GARD:0007100"} [Term] id: MONDO:0010176 name: orofaciodigital syndrome type 6 def: "Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." [Orphanet:2754] subset: gard_rare subset: ordo_disease {source="Orphanet:2754"} synonym: "Joubert syndrome with oral-facial-digital syndrome" EXACT [Orphanet:2754] synonym: "Joubert syndrome with orofaciodigital defect" EXACT [GARD:0004412] synonym: "OFD6" EXACT ABBREVIATION [DOID:0060376, Orphanet:2754] synonym: "Ofds 6" RELATED [OMIM:277170] synonym: "oral-facial-digital syndrome type 6" EXACT [Orphanet:2754] synonym: "oral-Facial-digital syndrome, type 6" RELATED [OMIM:277170] synonym: "orofaciodigital syndrome 6" RELATED [OMIM:277170] synonym: "orofaciodigital syndrome type 6" EXACT [MONDORULE:1, OMIM:277170, Orphanet:2754] synonym: "orofaciodigital syndrome VI" EXACT [DOID:0060376, MONDO:Lexical, OMIM:277170] synonym: "polydactyly - cleft lip/palate - psychomotor retardation" RELATED [GARD:0004412] synonym: "polydactyly cleft lip palate psychomotor retardation" RELATED [GARD:0004412] synonym: "polydactyly, cleft Lip/palate or lingual lump, and psychomotor retardation" RELATED [OMIM:277170] synonym: "polydactyly-cleft lip/palate-psychomotor retardation syndrome" EXACT [Orphanet:2754] synonym: "Varadi syndrome" EXACT [DOID:0060376, OMIM:277170] synonym: "Varadi-Papp syndrome" EXACT [DOID:0060376, OMIM:277170] synonym: "Váradi syndrome" RELATED [GARD:0004412] synonym: "Váradi-Papp syndrome" RELATED [GARD:0004412] xref: DOID:0060376 {source="MONDO:equivalentTo"} xref: MESH:C536531 {source="DOID:0060376", source="MONDO:equivalentTo"} xref: NCIT:C124841 {source="MONDO:equivalentTo"} xref: OMIM:277170 {source="DOID:0060376", source="MONDO:equivalentTo", source="Orphanet:2754", source="Orphanet:2754/e"} xref: Orphanet:2754 {source="DOID:0060376", source="GARD:0004412", source="MONDO:equivalentTo", source="OMIM:277170"} xref: SCTID:721873007 {source="MONDO:equivalentTo"} xref: UMLS:C2745997 {source="DOID:0060376", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2754", source="NCIT:C124841", source="Orphanet:2754/e", source="OMIM:277170"} is_a: MONDO:0013824 ! Joubert syndrome 17 is_a: MONDO:0015375 {source="DC-OMIM:277170", source="MESH:C536531", source="Orphanet:2754"} ! orofaciodigital syndrome is_a: MONDO:0020022 ! central nervous system malformation relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation property_value: exactMatch DOID:0060376 property_value: exactMatch http://identifiers.org/mesh/C536531 property_value: exactMatch http://identifiers.org/snomedct/721873007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2745997 property_value: exactMatch https://omim.org/entry/277170 property_value: exactMatch NCIT:C124841 property_value: exactMatch Orphanet:2754 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:2754"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4412/polydactyly-cleft-lip-palate-psychomotor-retardation xsd:anyURI {source="GARD:0004412"} [Term] id: MONDO:0010178 name: congenital bilateral aplasia of vas deferens from CFTR mutation def: "An autosomal recessive disorder that is associated with mutation(s) in the CFTR gene, encoding cystic fibrosis transmembrane conductance regulator. Mutation(s) in the same gene are associated with cystic fibrosis." [NCIT:C129303] synonym: "CAVD" RELATED ABBREVIATION [OMIM:277180] synonym: "CBAVD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:277180] synonym: "congenital bilateral absence of vas deferens" BROAD [OMIM:277180, OMIM:genemap2] synonym: "congenital bilateral aplasia of the vas deferens" BROAD [NCIT:C129303] synonym: "vas deferens, congenital bilateral aplasia of" BROAD [MONDO:Lexical, OMIM:277180] xref: DOID:0111864 {source="MONDO:equivalentTo"} xref: NCIT:C129303 {source="MONDO:equivalentTo"} xref: OMIM:277180 {source="MONDO:equivalentTo"} is_a: MONDO:0018801 {source="OMIM:277180", source="Orphanet:48/btnt"} ! congenital bilateral absence of vas deferens property_value: exactMatch DOID:0111864 property_value: exactMatch https://omim.org/entry/277180 property_value: exactMatch NCIT:C129303 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010180 name: autosomal recessive spondylocostal dysostosis def: "Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterized by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine." [Orphanet:2311] subset: ordo_malformation_syndrome {source="Orphanet:2311"} synonym: "costovertebral dysplasia" RELATED [OMIM:277300] synonym: "Jarcho-Levin syndrome" EXACT [Orphanet:2311] synonym: "SCDO1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:277300] synonym: "spondylocostal dysostosis 1, autosomal recessive" RELATED [MONDO:Lexical, OMIM:277300] synonym: "spondylocostal dysostosis, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535781 {source="Orphanet:2311", source="MONDO:equivalentTo", source="Orphanet:2311/e"} xref: Orphanet:2311 {source="MONDO:equivalentTo", source="OMIM:277300"} xref: SCTID:61367005 {source="MONDO:equivalentTo"} xref: UMLS:CN032975 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0000359 {source="DC-OMIM:277300", source="MONDO:Redundant", source="OMIM:277300"} ! spondylocostal dysostosis is_a: MONDO:0017747 {source="Orphanet:2311"} ! disorder of fucoglycosan synthesis is_a: MONDO:0018292 {source="Orphanet:2311"} ! congenital disorder of glycosylation-related bone disorder property_value: exactMatch http://identifiers.org/mesh/C535781 property_value: exactMatch http://identifiers.org/snomedct/61367005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN032975 property_value: exactMatch Orphanet:2311 [Term] id: MONDO:0010181 name: oculogastrointestinal muscular dystrophy def: "Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction." [Orphanet:1876] subset: ordo_disease {source="Orphanet:1876"} synonym: "familial visceral myopathy with external ophthalmoplegia" RELATED [GARD:0005496] synonym: "intestinal pseudoobstruction with external ophthalmoplegia" RELATED [OMIM:277320] synonym: "muscular dystrophy, oculogastrointestinal" RELATED [OMIM:277320] synonym: "visceral myopathy - familial external ophthalmoplegia" RELATED [GARD:0005496] synonym: "visceral myopathy, familial, with external ophthalmoplegia" RELATED [OMIM:277320] synonym: "visceral myopathy-familial external ophthalmoplegia syndrome" EXACT [Orphanet:1876] xref: ICD10CM:G71.0 {source="MONDO:relatedTo", source="Orphanet:1876", source="Orphanet:1876/attributed", source="Orphanet:1876/ntbt"} xref: OMIM:277320 {source="MONDO:equivalentTo", source="Orphanet:1876", source="Orphanet:1876/e"} xref: Orphanet:1876 {source="MONDO:equivalentTo", source="OMIM:277320"} xref: SCTID:722060007 {source="MONDO:equivalentTo"} is_a: MONDO:0020158 {source="MONDO:0020169-obsoleted"} ! eyelids malposition disorder is_a: MONDO:0021189 {source="Orphanet:1876"} ! intestinal motility disease property_value: exactMatch http://identifiers.org/snomedct/722060007 property_value: exactMatch https://omim.org/entry/277320 property_value: exactMatch Orphanet:1876 [Term] id: MONDO:0010183 name: methylmalonic aciduria and homocystinuria type cblF def: "A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner." [Orphanet:79284] comment: Editor note: TODO - relevant annotation from GO subset: ordo_clinical_subtype {source="Orphanet:79284"} synonym: "cblF defect" EXACT [Orphanet:79284] synonym: "cblF methylmalonic acidemia and homocystinuria" RELATED [] synonym: "cobalamin F defect" EXACT [Orphanet:79284] synonym: "cobalamin F deficiency" EXACT [DOID:0050717] synonym: "cobalamin F disease" RELATED [OMIM:277380] synonym: "cobalamin locus f variant" RELATED [] synonym: "cobalamin, defect in lysosomal release of" RELATED [OMIM:277380] synonym: "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF" EXACT [Orphanet:79284] synonym: "inherited methylmalonic acidemia and homocystinuria" EXACT [] synonym: "lysosomal membrane cobalamin transporter deficiency" EXACT [Orphanet:79284] synonym: "MAHCF" RELATED ABBREVIATION [OMIM:277380] synonym: "methylmalonic acidemia and homocystinuria, cblF type" RELATED [OMIM:277380] synonym: "methylmalonic acidemia with homocystinuria type cblF" RELATED [Orphanet:79284] synonym: "methylmalonic aciduria and homocystinuria type cblF" EXACT [] synonym: "methylmalonic aciduria and homocystinuria, cblF type" RELATED [OMIM:277380] synonym: "methylmalonic aciduria due to vitamin B12-release defect" RELATED [OMIM:277380] synonym: "methylmalonic aciduria with homocystinuria, type cblF" EXACT [Orphanet:79284] synonym: "vitamin B12 lysosomal release defect" RELATED [OMIM:277380] synonym: "vitamin B12 storage disease" RELATED [OMIM:277380] xref: DOID:0050717 {source="MONDO:equivalentTo"} xref: MESH:C564747 {source="MONDO:equivalentTo"} xref: OMIM:277380 {source="MONDO:equivalentTo", source="Orphanet:79284", source="DOID:0050717", source="Orphanet:79284/e"} xref: Orphanet:79284 {source="OMIM:277380", source="MONDO:equivalentTo"} xref: SCTID:80887004 {source="MONDO:equivalentTo"} is_a: MONDO:0016826 {source="DC-OMIM:277380", source="Orphanet:79284"} ! methylmalonic aciduria and homocystinuria property_value: exactMatch DOID:0050717 property_value: exactMatch http://identifiers.org/mesh/C564747 property_value: exactMatch http://identifiers.org/snomedct/80887004 property_value: exactMatch https://omim.org/entry/277380 property_value: exactMatch Orphanet:79284 [Term] id: MONDO:0010184 name: methylmalonic aciduria and homocystinuria type cblC def: "A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner." [Orphanet:79282] subset: ordo_clinical_subtype {source="Orphanet:79282"} synonym: "cblC" RELATED [GARD:0012128] synonym: "cblC - cobalamin locus c" RELATED [] synonym: "cblC defect" EXACT [Orphanet:79282] synonym: "cblC methylmalonic acidemia and homocystinuria" RELATED [] synonym: "cobalamin C defect" EXACT [Orphanet:79282] synonym: "cobalamin C deficiency" EXACT [DOID:0050715] synonym: "cobalamin c disease" EXACT [] synonym: "cobalamin locus c variant" RELATED [] synonym: "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC" EXACT [Orphanet:79282] synonym: "MAHCC" RELATED ABBREVIATION [OMIM:277400] synonym: "methylmalonic acidemia and homocystinuria cblC" RELATED [GARD:0012128] synonym: "methylmalonic acidemia and homocystinuria, cblC type" RELATED [OMIM:277400] synonym: "methylmalonic acidemia with homocystinuria type cblC" RELATED [GARD:0012128] synonym: "methylmalonic acidemia with homocystinuria, type cblC" RELATED [Orphanet:79282] synonym: "methylmalonic aciduria and homocystinuria cblC" RELATED [GARD:0012128] synonym: "methylmalonic aciduria and homocystinuria type cblC" EXACT [] synonym: "methylmalonic aciduria and homocystinuria, cblC type" RELATED [OMIM:277400] synonym: "methylmalonic aciduria and homocystinuria, cblC type, digenic" RELATED [OMIM:277400] synonym: "methylmalonic aciduria and homocystinuria, vitamin B12-responsive" RELATED [OMIM:277400] synonym: "methylmalonic aciduria with homocystinuria, type cblC" EXACT [Orphanet:79282] synonym: "vitamin B12 metabolic defect with combined deficiency of methylmalonyl-Coa mutase and homocysteine:methyltetrahydrofolate methyltransferase" RELATED [OMIM:277400] xref: DOID:0050715 {source="MONDO:equivalentTo"} xref: NCIT:C142174 {source="MONDO:equivalentTo"} xref: OMIM:277400 {source="MONDO:equivalentTo", source="Orphanet:79282", source="DOID:0050715", source="Orphanet:79282/e"} xref: Orphanet:79282 {source="MONDO:equivalentTo", source="OMIM:277400"} xref: SCTID:74653006 {source="MONDO:equivalentTo"} xref: UMLS:CN205878 {source="MONDO:equivalentTo"} is_a: MONDO:0016826 {source="DC-OMIM:277400", source="Orphanet:79282"} ! methylmalonic aciduria and homocystinuria is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy property_value: exactMatch DOID:0050715 property_value: exactMatch http://identifiers.org/snomedct/74653006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205878 property_value: exactMatch https://omim.org/entry/277400 property_value: exactMatch NCIT:C142174 property_value: exactMatch Orphanet:79282 [Term] id: MONDO:0010185 name: methylmalonic aciduria and homocystinuria type cblD def: "A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations." [Orphanet:79283] subset: ordo_clinical_subtype {source="Orphanet:79283"} synonym: "cblD - cobalamin locus d" RELATED [] synonym: "cblD defect" EXACT [Orphanet:79283] synonym: "cblD methylmalonic acidemia and homocystinuria" RELATED [] synonym: "cobalamin D defect" EXACT [Orphanet:79283] synonym: "cobalamin D deficiency" EXACT [DOID:0050716] synonym: "cobalamin d disease" EXACT [] synonym: "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD" EXACT [Orphanet:79283] synonym: "homocystinuria, cblD type, variant 1" RELATED [OMIM:277410] synonym: "homocystinuria, cblD type, variant 1, included" RELATED [GARD:0003582] synonym: "m0e.321 cobalamin locus d variant" RELATED [] synonym: "MAHCD" RELATED ABBREVIATION [OMIM:277410] synonym: "Mehtylmalonic acidemia with homocystinuria cbI d" RELATED [GARD:0003582] synonym: "methylmalonic acidemia and homocystinuria, cblD type" RELATED [OMIM:277410] synonym: "methylmalonic acidemia with homocystinuria type cblD" RELATED [GARD:0003582] synonym: "methylmalonic acidemia with homocystinuria, type cblD" RELATED [Orphanet:79283] synonym: "methylmalonic acidemia, Cblh type" RELATED [OMIM:277410] synonym: "methylmalonic acidemia, Cblh type, formerly" RELATED [OMIM:277410] synonym: "methylmalonic aciduria and homocystinuria type cblD" EXACT [] synonym: "methylmalonic aciduria and homocystinuria, cblD type" RELATED [OMIM:277410] synonym: "methylmalonic aciduria with homocystinuria, type cblD" EXACT [Orphanet:79283] synonym: "methylmalonic aciduria, cblD type, variant 2" RELATED [OMIM:277410] synonym: "methylmalonic aciduria, cblD type, variant 2, included" RELATED [GARD:0003582] synonym: "methylmalonic aciduria, Cblh type" RELATED [OMIM:277410] synonym: "methylmalonic aciduria, Cblh type, formerly" RELATED [OMIM:277410] xref: DOID:0050716 {source="MONDO:equivalentTo"} xref: MESH:C564743 {source="MONDO:equivalentTo"} xref: OMIM:277410 {source="MONDO:equivalentTo", source="Orphanet:79283", source="Orphanet:79283/e", source="DOID:0050716"} xref: Orphanet:28 {source="MONDO:relatedTo", source="OMIM:277410"} xref: Orphanet:308380 {source="MONDO:relatedTo", source="OMIM:277410"} xref: Orphanet:308442 {source="MONDO:relatedTo", source="OMIM:277410"} xref: Orphanet:622 {source="MONDO:relatedTo", source="OMIM:277410"} xref: Orphanet:79283 {source="MONDO:equivalentTo", source="OMIM:277410"} xref: SCTID:31220004 {source="MONDO:equivalentTo"} xref: UMLS:CN205879 {source="MONDO:equivalentTo"} is_a: MONDO:0016826 {source="DC-OMIM:277410", source="Orphanet:79283"} ! methylmalonic aciduria and homocystinuria is_a: MONDO:0100463 {source="https://orcid.org/0000-0002-5655-9589"} ! methylmalonic aciduria and/or homocystinuria, cblD type property_value: exactMatch DOID:0050716 property_value: exactMatch http://identifiers.org/mesh/C564743 property_value: exactMatch http://identifiers.org/snomedct/31220004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205879 property_value: exactMatch https://omim.org/entry/277410 property_value: exactMatch Orphanet:79283 [Term] id: MONDO:0010187 name: vitamin K-dependent clotting factors, combined deficiency of, type 1 def: "Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z." [Orphanet:98434] subset: ordo_disease {source="Orphanet:98434"} subset: prototype_pattern synonym: "congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in GGCX" EXACT [MONDO:design_pattern] synonym: "factors II, VII, IX, and X, combined deficiency of" RELATED [OMIM:277450] synonym: "familial multiple coagulation Factor deficiency 3" RELATED [OMIM:277450] synonym: "FMFD 3" RELATED [OMIM:277450] synonym: "GGCX congenital vitamin K-dependent coagulation factors combined deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "glutamic acid, deficient gamma-carboxylation of" RELATED [OMIM:277450] synonym: "hereditary combined deficiency of factors II, VII, IX and X" EXACT [Orphanet:98434] synonym: "hereditary combined deficiency of vitamin K-dependent clotting factors" RELATED [Orphanet:98434] synonym: "multiple coagulation Factor deficiency 3" RELATED [OMIM:277450] synonym: "vitamin K-dependent clotting factors, combined deficiency of, 1" RELATED [MONDO:Lexical, OMIM:277450] synonym: "vitamin K-dependent clotting factors, combined deficiency of, type 1" EXACT [MONDORULE:1, OMIM:277450] synonym: "vitamin K-dependent coagulation defect" RELATED [OMIM:277450] synonym: "Vkcfd" RELATED [OMIM:277450] synonym: "VKCFD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:277450] xref: DOID:0112173 {source="MONDO:equivalentTo"} xref: MESH:C564741 {source="MONDO:equivalentTo"} xref: OMIM:277450 {source="Orphanet:98434", source="MONDO:equivalentTo", source="Orphanet:98434/e"} xref: SCTID:724356003 {source="MONDO:equivalentTo"} xref: UMLS:C1848534 {source="Orphanet:98434", source="OMIM:277450", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015722 {source="DC-OMIM:277450", source="MONDO:Redundant", source="OMIM:277450"} ! congenital vitamin K-dependent coagulation factors deficiency is_a: MONDO:0017760 {source="Orphanet:98434"} ! disorder of other vitamins and cofactors metabolism and transport property_value: exactMatch DOID:0112173 property_value: exactMatch http://identifiers.org/mesh/C564741 property_value: exactMatch http://identifiers.org/snomedct/724356003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848534 property_value: exactMatch https://omim.org/entry/277450 [Term] id: MONDO:0010188 name: familial isolated deficiency of vitamin E def: "Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." [Orphanet:96] subset: ordo_disease {source="Orphanet:96"} synonym: "ataxia with isolated vitamin E deficiency" EXACT [DOID:0090028, Orphanet:96] synonym: "ataxia with vitamin E deficiency" RELATED [Orphanet:96] synonym: "ataxia, Friedreich-like, with selective vitamin E deficiency" RELATED [OMIM:277460] synonym: "AVED" EXACT ABBREVIATION [Orphanet:96] synonym: "familial isolated deficiency of vitamin type E" EXACT [DOID:0090028, MONDORULE:1] synonym: "familial isolated vitamin E deficiency" EXACT [DOID:0090028, Orphanet:96] synonym: "Friedreich-like ataxia" EXACT [OMIM:277460, Orphanet:96] synonym: "Friedreich-like ataxia with selective vitamin E deficiency" RELATED [GARD:0008595] synonym: "isolated vitamin E deficiency" EXACT [Orphanet:96] synonym: "VED" RELATED ABBREVIATION [MONDO:Lexical, OMIM:277460] synonym: "vitamin E, familial isolated deficiency OF" RELATED [MONDO:Lexical, OMIM:277460] xref: DOID:0090028 {source="MONDO:equivalentTo"} xref: ICD9:269.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:334.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10047631 {source="Orphanet:96/e", source="Orphanet:96"} xref: MESH:C535393 {source="Orphanet:96/e", source="MONDO:equivalentTo", source="DOID:0090028", source="Orphanet:96"} xref: OMIM:277460 {source="Orphanet:96/e", source="MONDO:equivalentTo", source="DOID:0090028", source="Orphanet:96"} xref: Orphanet:96 {source="OMIM:277460", source="MONDO:equivalentTo", source="DOID:0090028"} xref: SCTID:702442008 {source="MONDO:equivalentTo"} is_a: EFO:0005596 {source="DOID:0090028"} ! vitamin metabolic disorder is_a: MONDO:0017760 {source="Orphanet:96"} ! disorder of other vitamins and cofactors metabolism and transport is_a: MONDO:0020044 {source="Orphanet:96"} ! autosomal recessive metabolic cerebellar ataxia is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy property_value: closeMatch http://identifiers.org/meddra/10047631 property_value: exactMatch DOID:0090028 property_value: exactMatch http://identifiers.org/mesh/C535393 property_value: exactMatch http://identifiers.org/snomedct/702442008 property_value: exactMatch https://omim.org/entry/277460 property_value: exactMatch Orphanet:96 [Term] id: MONDO:0010191 name: von Willebrand disease 3 def: "Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII)." [Orphanet:166096] subset: ordo_clinical_subtype {source="Orphanet:166096"} synonym: "von Willebrand disease 3" EXACT [] synonym: "von Willebrand disease type 3" EXACT [DOID:0111054] synonym: "von Willebrand disease type III" EXACT [DOID:0111054] synonym: "VON WILLEBRAND disease, type 3" RELATED [MONDO:Lexical, OMIM:277480] synonym: "Von Willebrand disease, type 3" RELATED [OMIM:277480] synonym: "von Willebrand's disease 3" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] synonym: "von Willebrand's disease type 3" EXACT [DOID:0111054, MONDORULE:1] synonym: "VWD type 3" EXACT [DOID:0111054] synonym: "VWD, type 3" RELATED [OMIM:277480] synonym: "VWD3" EXACT ABBREVIATION [DOID:0111054, MONDO:Lexical, OMIM:277480] xref: DOID:0111054 {source="MONDO:equivalentTo"} xref: MESH:D056729 {source="Orphanet:166096/e", source="MONDO:equivalentTo", source="DOID:0111054", source="Orphanet:166096"} xref: NCIT:C85213 {source="MONDO:equivalentTo"} xref: OMIM:277480 {source="Orphanet:166096/e", source="MONDO:equivalentTo", source="DOID:0111054", source="Orphanet:166096"} xref: Orphanet:166096 {source="OMIM:277480", source="MONDO:equivalentTo", source="DOID:0111054"} xref: SCTID:128108002 {source="MONDO:equivalentTo"} xref: UMLS:C1264041 {source="OMIM:277480", source="Orphanet:166096/e", source="MONDO:equivalentTo", source="DOID:0111054", source="NCIT:C85213", source="Orphanet:166096"} is_a: MONDO:0019565 {source="DC-OMIM:277480", source="DOID:0111054", source="MESH:D056729", source="NCIT:C85213", source="Orphanet:166096"} ! hereditary von Willebrand disease property_value: exactMatch DOID:0111054 property_value: exactMatch http://identifiers.org/mesh/D056729 property_value: exactMatch http://identifiers.org/snomedct/128108002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1264041 property_value: exactMatch https://omim.org/entry/277480 property_value: exactMatch NCIT:C85213 property_value: exactMatch Orphanet:166096 [Term] id: MONDO:0010193 name: Weaver syndrome def: "Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry." [Orphanet:3447] subset: ordo_malformation_syndrome {source="Orphanet:3447"} synonym: "camptodactyly - overgrowth - unusual facies" RELATED [GARD:0007878] synonym: "camptodactyly-overgrowth-unusual facies syndrome" EXACT [Orphanet:3447] synonym: "EZH2 related overgrowth" RELATED [GARD:0007878] synonym: "intellectual disability, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate" RELATED [GTR:AN0102080] synonym: "mental retardation, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate" RELATED DEPRECATED [GTR:AN0102080] synonym: "overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly" RELATED [GARD:0007878] synonym: "Weaver like syndrome" RELATED [GARD:0007878] synonym: "Weaver Smith syndrome" RELATED [GARD:0007878] synonym: "WEAVER syndrome" RELATED [OMIM:277590] synonym: "Weaver syndrome" EXACT [MONDO:Lexical, OMIM:277590] synonym: "Weaver Williams syndrome" RELATED [GTR:AN0102079] synonym: "WEAVER-like syndrome" EXACT [DOID:14731] synonym: "Weaver-like syndrome" RELATED [OMIM:277590] synonym: "Weaver-Smith syndrome" RELATED [OMIM:277590] synonym: "WVS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:277590] xref: DOID:14731 {source="MONDO:equivalentTo"} xref: GTR:AN0102079 xref: GTR:AN0102080 xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536687 {source="MONDO:equivalentTo", source="Orphanet:3447", source="Orphanet:3447/e"} xref: NCIT:C125599 {source="MONDO:equivalentTo"} xref: OMIM:277590 {source="MONDO:equivalentTo", source="Orphanet:3447", source="DOID:14731", source="Orphanet:3447/e"} xref: Orphanet:3447 {source="OMIM:277590", source="MONDO:equivalentTo"} xref: SCTID:63119004 {source="MONDO:equivalentTo"} xref: UMLS:C0265210 {source="OMIM:277590", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3447", source="NCIT:C125599", source="Orphanet:3447/e"} xref: UMLS:CN036342 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C125599"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:3447"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0019716 {source="Orphanet:3447"} ! overgrowth syndrome is_a: MONDO:0800091 {source="PMID:31633310"} ! overgrowth or tall stature syndrome with skeletal involvement property_value: exactMatch DOID:14731 property_value: exactMatch http://identifiers.org/mesh/C536687 property_value: exactMatch http://identifiers.org/snomedct/63119004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265210 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN036342 property_value: exactMatch https://omim.org/entry/277590 property_value: exactMatch NCIT:C125599 property_value: exactMatch Orphanet:3447 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3447", source="https://clinicalgenome.org/affiliation/40060/"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010196 name: Werner syndrome def: "A rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders." [Orphanet:902] subset: ordo_disease {source="Orphanet:902"} synonym: "adult premature ageing syndrome" EXACT OMO:0003005 [] synonym: "adult premature aging syndrome" EXACT [DOID:5688] synonym: "adult progeria" EXACT [DOID:5688, Orphanet:902] synonym: "Werner syndrome" EXACT [MONDO:Lexical, OMIM:277700] synonym: "Werner's syndrome" EXACT [DOID:5688] synonym: "WRN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:277700] synonym: "WS" EXACT ABBREVIATION [DOID:5688, NCIT:C3447, Orphanet:902] xref: DOID:5688 {source="MONDO:equivalentTo"} xref: ICD9:259.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10049429 {source="Orphanet:902", source="Orphanet:902/e"} xref: MESH:D014898 {source="DOID:5688", source="MONDO:equivalentTo", source="Orphanet:902", source="Orphanet:902/e"} xref: NCIT:C3447 {source="DOID:5688", source="MONDO:equivalentTo"} xref: OMIM:277700 {source="DOID:5688", source="MONDO:equivalentTo", source="Orphanet:902", source="Orphanet:902/e"} xref: Orphanet:902 {source="DOID:5688", source="MONDO:equivalentTo", source="OMIM:277700"} xref: SCTID:51626007 {source="DOID:5688", source="MONDO:equivalentTo"} xref: UMLS:C0043119 {source="DOID:5688", source="MONDO:equivalentTo", source="Orphanet:902", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:902/e", source="NCIT:C3447", source="OMIM:277700"} is_a: EFO:1000017 {source="DOID:5688", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0015333 {source="Orphanet:902", source="https://orcid.org/0000-0001-6330-7526"} ! progeroid syndrome property_value: closeMatch http://identifiers.org/meddra/10049429 property_value: exactMatch DOID:5688 property_value: exactMatch http://identifiers.org/mesh/D014898 property_value: exactMatch http://identifiers.org/snomedct/51626007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043119 property_value: exactMatch https://omim.org/entry/277700 property_value: exactMatch NCIT:C3447 property_value: exactMatch Orphanet:902 property_value: excluded_subClassOf MONDO:0005328 property_value: excluded_subClassOf MONDO:0016382 {source="Orphanet:902"} property_value: excluded_subClassOf MONDO:0019303 {source="Orphanet:902"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5682 xsd:anyURI [Term] id: MONDO:0010199 name: white forelock with malformations def: "White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980." [Orphanet:2475] subset: gard_rare {source="GARD:0010081"} subset: ordo_malformation_syndrome {source="Orphanet:2475"} synonym: "white forelock with malformations" EXACT [OMIM:277740] xref: MESH:C536700 {source="Orphanet:2475", source="MONDO:equivalentTo", source="Orphanet:2475/e"} xref: OMIM:277740 {source="Orphanet:2475", source="MONDO:equivalentTo", source="Orphanet:2475/e"} xref: Orphanet:2475 {source="MONDO:equivalentTo", source="OMIM:277740"} xref: SCTID:763619009 {source="MONDO:equivalentTo"} xref: UMLS:C1848463 {source="Orphanet:2475", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:277740", source="Orphanet:2475/e"} is_a: EFO:0003777 {source="MONDO:0015506-obsoleted"} ! heart disease is_a: MONDO:0015161 {source="Orphanet:2475"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C536700 property_value: exactMatch http://identifiers.org/snomedct/763619009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848463 property_value: exactMatch https://omim.org/entry/277740 property_value: exactMatch Orphanet:2475 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10081/white-forelock-with-malformations xsd:anyURI {source="GARD:0010081"} [Term] id: MONDO:0010200 name: Wilson disease def: "A very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body." [https://orcid.org/0000-0001-5208-3432, Orphanet:905] subset: clingen subset: gard_rare {source="GARD:0007893"} subset: ordo_disease {source="Orphanet:905"} synonym: "cerebral pseudosclerosis" EXACT [DOID:893] synonym: "hepatolenticular Degeneration" RELATED [OMIM:277900] synonym: "hepatolenticular degeneration" EXACT [DOID:893, Orphanet:905] synonym: "WD" RELATED ABBREVIATION [GARD:0007893] synonym: "Westphal pseudosclerosis" EXACT [DOID:893] synonym: "Westphal-Strumpell syndrome" EXACT [DOID:893] synonym: "Wilson disease" EXACT [OMIM:277900] synonym: "Wilson's disease" EXACT [DOID:893] synonym: "Wnd" RELATED [OMIM:277900] xref: DOID:893 {source="MONDO:equivalentTo"} xref: MedDRA:10019819 {source="Orphanet:905/e", source="Orphanet:905"} xref: MESH:D006527 {source="Orphanet:905/e", source="MONDO:equivalentTo", source="Orphanet:905", source="DOID:893"} xref: NCIT:C84756 {source="MONDO:equivalentTo", source="DOID:893"} xref: OMIM:277900 {source="Orphanet:905/e", source="MONDO:equivalentTo", source="Orphanet:905", source="DOID:893"} xref: Orphanet:905 {source="MONDO:equivalentTo", source="OMIM:277900"} xref: SCTID:88518009 {source="MONDO:equivalentTo", source="DOID:893"} xref: UMLS:C0019202 {source="Orphanet:905/e", source="NCIT:C84756", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:905", source="DOID:893", source="OMIM:277900"} is_a: MONDO:0004689 {source="DOID:893", source="MESH:D006527"} ! inborn metal metabolism disorder is_a: MONDO:0017762 {source="Orphanet:905", source="https://orcid.org/0000-0001-5208-3432"} ! disorder of copper metabolism relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115", source="MONDO:0017644"} ! rare property_value: closeMatch http://identifiers.org/meddra/10019819 property_value: exactMatch DOID:893 property_value: exactMatch http://identifiers.org/mesh/D006527 property_value: exactMatch http://identifiers.org/snomedct/88518009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019202 property_value: exactMatch https://omim.org/entry/277900 property_value: exactMatch NCIT:C84756 property_value: exactMatch Orphanet:905 property_value: excluded_subClassOf MONDO:0005071 {source="MONDO:0020016-obsoleted"} property_value: excluded_subClassOf MONDO:0005328 property_value: excluded_subClassOf MONDO:0005395 {source="Orphanet:905"} property_value: excluded_subClassOf MONDO:0019743 {source="Orphanet:905"} property_value: excluded_subClassOf MONDO:0020127 {source="MONDO:0016133-obsoleted"} property_value: excluded_subClassOf MONDO:0020257 {source="Orphanet:905"} property_value: excluded_subClassOf MONDO:0044807 {source="MONDO:0018265-obsoleted"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7893/wilson-disease xsd:anyURI {source="GARD:0007893"} [Term] id: MONDO:0010203 name: intellectual disability, Wolff type def: "Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias." [Orphanet:3080] subset: ordo_malformation_syndrome {source="Orphanet:3080"} synonym: "WOLFF intellectual disability syndrome" RELATED [OMIM:277990] synonym: "WOLFF mental retardation syndrome" RELATED DEPRECATED [OMIM:277990] synonym: "Wolff-Zimmermann syndrome" EXACT [Orphanet:3080] xref: MESH:C537448 {source="MONDO:equivalentTo"} xref: OMIM:277990 {source="MONDO:equivalentTo", source="Orphanet:3080", source="Orphanet:3080/e"} xref: Orphanet:3080 {source="OMIM:277990", source="MONDO:equivalentTo"} xref: UMLS:C1848439 {source="OMIM:277990", source="MONDO:equivalentTo", source="Orphanet:3080", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3080/e"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3080", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:3080"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C537448 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848439 property_value: exactMatch https://omim.org/entry/277990 property_value: exactMatch Orphanet:3080 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010204 name: lysosomal acid lipase deficiency def: "Lysosomal acid lipase deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease, or 2) a less severe form, cholesteryl ester storage disease, of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis." [Orphanet:275761] comment: This will be obsoleted in the 2023-09-01 release. The term will be split and the new ID for this term will be MONDO:0800440 (lysosomal acid lipase deficiency), and MONDO:0019149 (Cholesteryl ester storage disease). subset: obsoletion_candidate subset: ordo_disease {source="Orphanet:275761"} synonym: "cholesterol ester hydrolase deficiency" RELATED [OMIM:278000] synonym: "cholesteryl ester storage disease" RELATED [OMIM:278000] synonym: "LAL deficiency" EXACT [OMIM:278000, Orphanet:275761] synonym: "lipa deficiency" RELATED [OMIM:278000] synonym: "lysosomal acid lipase deficiency" EXACT [OMIM:278000] synonym: "lysosomal and lipase deficiency" RELATED [DOID:0080217] synonym: "Wolman disease" RELATED [OMIM:278000] xref: DOID:0080217 {source="MONDO:equivalentTo"} xref: MESH:C531854 {source="MONDO:equivalentTo"} xref: OMIM:278000 {source="Orphanet:275761", source="MONDO:equivalentTo", source="DOID:0080217", source="Orphanet:275761/e"} xref: Orphanet:275761 {source="OMIM:278000", source="MONDO:equivalentTo"} xref: SCTID:715923003 {source="MONDO:equivalentTo"} is_a: MONDO:0015905 {source="Orphanet:275761"} ! syndromic dyslipidemia is_a: MONDO:0019245 {source="DOID:0080217", source="MESH:C531854/inferred", source="Orphanet:275761"} ! lysosomal lipid storage disorder property_value: exactMatch DOID:0080217 property_value: exactMatch http://identifiers.org/mesh/C531854 property_value: exactMatch http://identifiers.org/snomedct/715923003 property_value: exactMatch https://omim.org/entry/278000 property_value: exactMatch Orphanet:275761 property_value: excluded_subClassOf MONDO:0019148 {source="MESH:C531854"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6379 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0010207 name: wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome subset: ordo_malformation_syndrome {source="Orphanet:1409"} synonym: "Salamon syndrome" EXACT [OMIM:278200, Orphanet:1409] synonym: "woolly hair hypotrichosis everted lower lip and outstanding ears" RELATED OMO:0003005 [] synonym: "woolly hair, hypotrichosis, everted LOWER LIP, and outstanding ears" RELATED OMO:0003005 [] synonym: "wooly hair hypotrichosis everted lower lip and outstanding ears" RELATED [GARD:0005594] synonym: "wooly hair, hypotrichosis, everted LOWER LIP, and outstanding ears" RELATED [OMIM:278200] synonym: "wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome" EXACT [Orphanet:1409] xref: MESH:C536746 {source="Orphanet:1409/e", source="MONDO:equivalentTo", source="Orphanet:1409"} xref: OMIM:278200 {source="Orphanet:1409/e", source="MONDO:equivalentTo", source="Orphanet:1409"} xref: Orphanet:1409 {source="MONDO:equivalentObsolete", source="OMIM:278200"} xref: SCTID:239023005 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="Orphanet:1409"} ! syndromic disease property_value: exactMatch http://identifiers.org/mesh/C536746 property_value: exactMatch http://identifiers.org/snomedct/239023005 property_value: exactMatch https://omim.org/entry/278200 [Term] id: MONDO:0010208 name: wrinkly skin syndrome def: "A type of cutis laxa that is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." [https://orcid.org/0000-0001-5208-3432, Orphanet:2834] subset: ordo_clinical_subtype {source="Orphanet:2834"} synonym: "wrinkled skin syndrome" EXACT [Orphanet:2834] synonym: "wrinkly skin syndrome" EXACT [MONDO:Lexical, OMIM:278250] synonym: "WSS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:278250, Orphanet:2834] xref: DOID:0112171 {source="MONDO:equivalentTo"} xref: ICD9:259.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536750 {source="MONDO:equivalentTo", source="Orphanet:2834", source="Orphanet:2834/e"} xref: OMIM:278250 {source="MONDO:equivalentTo", source="Orphanet:2834", source="Orphanet:2834/e"} xref: Orphanet:2834 {source="OMIM:278250", source="MONDO:equivalentTo"} xref: SCTID:238875009 {source="MONDO:equivalentTo"} xref: UMLS:C0406587 {source="OMIM:278250", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2834", source="Orphanet:2834/e"} is_a: MONDO:0018163 {source="Orphanet:2834"} ! autosomal recessive cutis laxa type 2A property_value: exactMatch DOID:0112171 property_value: exactMatch http://identifiers.org/mesh/C536750 property_value: exactMatch http://identifiers.org/snomedct/238875009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406587 property_value: exactMatch https://omim.org/entry/278250 property_value: exactMatch Orphanet:2834 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0010209 name: xanthinuria type I def: "A rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer." [Orphanet:93601] subset: ordo_etiological_subtype {source="Orphanet:93601"} synonym: "hereditary xanthinuria, type I" RELATED [] synonym: "isolated xanthine oxidase deficiency" EXACT [] synonym: "type 1 xanthinuria" RELATED [GARD:0005621] synonym: "XAN1" EXACT ABBREVIATION [MESH:C562584] synonym: "xanthine dehydrogenase deficiency" BROAD [MESH:C562584] synonym: "xanthine oxidase deficiency" BROAD [MESH:C562584] synonym: "xanthine oxidoreductase deficiency" BROAD [Orphanet:93601] synonym: "xanthinuria type 1" EXACT [GARD:0005621] synonym: "xanthinuria type I" EXACT [] synonym: "xanthinuria, type 1" EXACT [OMIM:278300] synonym: "xanthinuria, type I" EXACT [OMIM:278300] synonym: "XDH deficiency" BROAD [MESH:C562584, OMIM:278300, Orphanet:93601] synonym: "XO deficiency" BROAD [Orphanet:93601] synonym: "XOR deficiency" BROAD [Orphanet:93601] xref: MESH:C562584 {source="MONDO:equivalentTo"} xref: OMIM:278300 {source="MONDO:equivalentTo", source="Orphanet:93601", source="Orphanet:93601/e"} xref: Orphanet:93601 {source="MONDO:equivalentTo", source="OMIM:278300"} xref: SCTID:72682008 {source="MONDO:equivalentTo"} is_a: MONDO:0018106 {source="MONDO:Redundant", source="OMIM:278300", source="Orphanet:93601"} ! hereditary xanthinuria property_value: exactMatch http://identifiers.org/mesh/C562584 property_value: exactMatch http://identifiers.org/snomedct/72682008 property_value: exactMatch https://omim.org/entry/278300 property_value: exactMatch Orphanet:93601 [Term] id: MONDO:0010210 name: xeroderma pigmentosum group A def: "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the XPA gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare synonym: "xeroderma pigmentosum 1" EXACT [DOID:0110843, OMIM:278700] synonym: "xeroderma pigmentosum caused by mutation in XPA" EXACT [MONDO:design_pattern] synonym: "xeroderma pigmentosum complementation group A" EXACT [DOID:0110843] synonym: "xeroderma pigmentosum group A" EXACT [] synonym: "xeroderma pigmentosum group type A" EXACT [DOID:0110843, MONDORULE:1] synonym: "xeroderma pigmentosum, complementation group A" RELATED [MONDO:Lexical, OMIM:278700] synonym: "xeroderma pigmentosum, complementation group type a" EXACT [MONDORULE:1, OMIM:278700] synonym: "xeroderma pigmentosum, group A" EXACT [OMIM:278700, OMIM:genemap2] synonym: "xeroderma pigmentosum, type 1" RELATED [GARD:0005624] synonym: "XP group A" EXACT [DOID:0110843] synonym: "XP, group A" RELATED [OMIM:278700] synonym: "XP-A" EXACT [NCIT:C3965] synonym: "XP1" EXACT ABBREVIATION [DOID:0110843] synonym: "XPA" EXACT ABBREVIATION [DOID:0110843, MONDO:Lexical, OMIM:278700] synonym: "XPA xeroderma pigmentosum" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110843 {source="MONDO:equivalentTo"} xref: NCIT:C3965 {source="MONDO:equivalentTo"} xref: OMIM:278700 {source="DOID:0110843", source="MONDO:equivalentTo"} xref: Orphanet:276249 {source="MONDO:equivalentObsolete", source="OMIM:278700"} xref: SCTID:43477006 {source="MONDO:equivalentTo"} xref: UMLS:C0268135 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C3965"} is_a: MONDO:0019600 {source="DC-OMIM:278700", source="DOID:0110843", source="MONDO:Redundant", source="NCIT:C3965"} ! xeroderma pigmentosum property_value: exactMatch DOID:0110843 property_value: exactMatch http://identifiers.org/snomedct/43477006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268135 property_value: exactMatch https://omim.org/entry/278700 property_value: exactMatch NCIT:C3965 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010211 name: xeroderma pigmentosum group C def: "An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair." [NCIT:C114770] subset: gard_rare synonym: "xeroderma pigmentosum 3" RELATED [OMIM:278720] synonym: "xeroderma pigmentosum group C" EXACT [] synonym: "xeroderma pigmentosum group type C" EXACT [DOID:0110844, MONDORULE:1] synonym: "xeroderma pigmentosum III" EXACT [DOID:0110844] synonym: "xeroderma pigmentosum, complementation group C" RELATED [MONDO:Lexical, OMIM:278720] synonym: "xeroderma pigmentosum, complementation group type C" EXACT [MONDORULE:1, OMIM:278720] synonym: "xeroderma pigmentosum, group C" EXACT [OMIM:278720, OMIM:genemap2] synonym: "xeroderma pigmentosum, type 3" RELATED [GARD:0005626] synonym: "XP group C" EXACT [DOID:0110844] synonym: "XP, Group C" RELATED [OMIM:278720] synonym: "XP-C" EXACT [NCIT:C114770] synonym: "XP3" EXACT ABBREVIATION [DOID:0110844] synonym: "XPC" EXACT ABBREVIATION [DOID:0110844, MONDO:Lexical, OMIM:278720] synonym: "XPCC" EXACT ABBREVIATION [DOID:0110844, OMIM:278720] xref: DOID:0110844 {source="MONDO:equivalentTo"} xref: MESH:C567886 {source="MONDO:equivalentTo"} xref: NCIT:C114770 {source="MONDO:equivalentTo"} xref: OMIM:278720 {source="DOID:0110844", source="MONDO:equivalentTo"} xref: Orphanet:276255 {source="MONDO:equivalentObsolete", source="OMIM:278720"} xref: SCTID:25784009 {source="MONDO:equivalentTo"} xref: UMLS:C2752147 {source="NCIT:C114770", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:278720"} is_a: MONDO:0019600 {source="DC-OMIM:278720", source="DOID:0110844", source="MESH:C567886", source="NCIT:C114770"} ! xeroderma pigmentosum property_value: exactMatch DOID:0110844 property_value: exactMatch http://identifiers.org/mesh/C567886 property_value: exactMatch http://identifiers.org/snomedct/25784009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2752147 property_value: exactMatch https://omim.org/entry/278720 property_value: exactMatch NCIT:C114770 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010212 name: xeroderma pigmentosum group D def: "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "ERCC2 xeroderma pigmentosum" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "xeroderma pigmentosum 4" RELATED [OMIM:278730] synonym: "xeroderma pigmentosum caused by mutation in ERCC2" EXACT [MONDO:design_pattern] synonym: "xeroderma pigmentosum group D" EXACT [] synonym: "xeroderma pigmentosum group type D" EXACT [DOID:0110845, MONDORULE:1] synonym: "xeroderma pigmentosum IV" EXACT [DOID:0110845] synonym: "xeroderma pigmentosum VIII" EXACT [DOID:0110845] synonym: "xeroderma pigmentosum, complementation group D" RELATED [MONDO:Lexical, OMIM:278730] synonym: "xeroderma pigmentosum, complementation group type D" EXACT [MONDORULE:1, OMIM:278730] synonym: "xeroderma pigmentosum, group D" EXACT [OMIM:278730, OMIM:genemap2] synonym: "XP group D" EXACT [DOID:0110845] synonym: "XP group H" EXACT [DOID:0110845] synonym: "XP, Group D" RELATED [OMIM:278730] synonym: "XP, Group H" RELATED [OMIM:278730] synonym: "XP, Group H, formerly" RELATED [OMIM:278730] synonym: "XP-D" EXACT [NCIT:C3967] synonym: "XP4" EXACT ABBREVIATION [DOID:0110845] synonym: "XP4 xeroderma pigmentosum VIII" RELATED [OMIM:278730] synonym: "XP4 xeroderma pigmentosum VIII, formerly" RELATED [OMIM:278730] synonym: "XP8" EXACT ABBREVIATION [DOID:0110845] synonym: "XPD" EXACT ABBREVIATION [DOID:0110845, MONDO:Lexical, OMIM:278730] synonym: "XPDC" EXACT ABBREVIATION [DOID:0110845] synonym: "XPH" EXACT ABBREVIATION [DOID:0110845] xref: DOID:0110845 {source="MONDO:equivalentTo"} xref: MESH:C562591 {source="MONDO:equivalentTo"} xref: NCIT:C3967 {source="MONDO:equivalentTo"} xref: OMIM:278730 {source="DOID:0110845", source="MONDO:equivalentTo"} xref: Orphanet:276258 {source="MONDO:equivalentObsolete", source="OMIM:278730"} xref: SCTID:68637004 {source="MONDO:equivalentTo"} is_a: MONDO:0016354 {source="Orphanet:220295/btnt"} ! xeroderma pigmentosum-Cockayne syndrome complex is_a: MONDO:0019600 {source="DC-OMIM:278730", source="DOID:0110845", source="MESH:C562591", source="MONDO:Redundant", source="NCIT:C3967"} ! xeroderma pigmentosum property_value: exactMatch DOID:0110845 property_value: exactMatch http://identifiers.org/mesh/C562591 property_value: exactMatch http://identifiers.org/snomedct/68637004 property_value: exactMatch https://omim.org/entry/278730 property_value: exactMatch NCIT:C3967 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010213 name: xeroderma pigmentosum group E def: "An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer." [NCIT:C114771] subset: gard_rare synonym: "xeroderma pigmentosum 5" RELATED [OMIM:278740] synonym: "xeroderma pigmentosum group E" EXACT [] synonym: "xeroderma pigmentosum group type E" EXACT [DOID:0110846, MONDORULE:1] synonym: "xeroderma pigmentosum V" EXACT [DOID:0110846] synonym: "xeroderma pigmentosum, complementation group E" RELATED [OMIM:278740] synonym: "xeroderma pigmentosum, complementation group type E" EXACT [MONDORULE:1, OMIM:278740] synonym: "xeroderma pigmentosum, group E, DDB-negative subtype" EXACT [OMIM:278740, OMIM:genemap2] synonym: "xeroderma pigmentosum, type 5" RELATED [GARD:0005627] synonym: "XP group E" EXACT [DOID:0110846] synonym: "XP, Group E" RELATED [OMIM:278740] synonym: "XP-E" EXACT [NCIT:C114771] synonym: "XP5" EXACT ABBREVIATION [DOID:0110846] synonym: "XPE" EXACT ABBREVIATION [DOID:0110846] synonym: "XPe" RELATED [OMIM:278740] xref: DOID:0110846 {source="MONDO:equivalentTo"} xref: MESH:C564732 {source="MONDO:equivalentTo"} xref: NCIT:C114771 {source="MONDO:equivalentTo"} xref: OMIM:278740 {source="DOID:0110846", source="MONDO:equivalentTo"} xref: Orphanet:276261 {source="MONDO:equivalentObsolete", source="OMIM:278740"} xref: SCTID:56048001 {source="MONDO:equivalentTo"} xref: UMLS:C1848411 {source="NCIT:C114771", source="MONDO:equivalentTo", source="OMIM:278740", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019600 {source="DC-OMIM:278740", source="DOID:0110846", source="MESH:C564732", source="NCIT:C114771"} ! xeroderma pigmentosum property_value: exactMatch DOID:0110846 property_value: exactMatch http://identifiers.org/mesh/C564732 property_value: exactMatch http://identifiers.org/snomedct/56048001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848411 property_value: exactMatch https://omim.org/entry/278740 property_value: exactMatch NCIT:C114771 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010214 name: xeroderma pigmentosum variant type def: "Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer." [Orphanet:90342] subset: gard_rare {source="GARD:0005630"} subset: ordo_disease {source="Orphanet:90342"} synonym: "photosensitivity with defective DNA synthesis" EXACT [DOID:0110847, OMIM:278750] synonym: "xeroderma pigmentosum variant" RELATED [Orphanet:90342] synonym: "xeroderma pigmentosum variant type" EXACT [] synonym: "xeroderma pigmentosum with normal DNA repair rates" EXACT [DOID:0110847, OMIM:278750] synonym: "xeroderma pigmentosum, variant type" RELATED [MONDO:Lexical, OMIM:278750] synonym: "XPV" EXACT ABBREVIATION [DOID:0110847, MONDO:Lexical, OMIM:278750, Orphanet:90342] xref: DOID:0110847 {source="MONDO:equivalentTo"} xref: MESH:C536766 {source="MONDO:equivalentTo", source="Orphanet:90342", source="Orphanet:90342/e"} xref: NCIT:C141367 {source="MONDO:equivalentTo"} xref: OMIM:278750 {source="MONDO:equivalentTo", source="DOID:0110847", source="Orphanet:90342", source="Orphanet:90342/e"} xref: Orphanet:90342 {source="MONDO:equivalentTo", source="OMIM:278750"} xref: UMLS:C1848410 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:278750", source="Orphanet:90342", source="Orphanet:90342/e"} is_a: MONDO:0019600 {source="DC-OMIM:278750", source="DOID:0110847", source="MESH:C536766", source="NCIT:C141367", source="Orphanet:90342"} ! xeroderma pigmentosum property_value: exactMatch DOID:0110847 property_value: exactMatch http://identifiers.org/mesh/C536766 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848410 property_value: exactMatch https://omim.org/entry/278750 property_value: exactMatch NCIT:C141367 property_value: exactMatch Orphanet:90342 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5630/xeroderma-pigmentosum-variant-type xsd:anyURI {source="GARD:0005630"} [Term] id: MONDO:0010215 name: xeroderma pigmentosum group F def: "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC4 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare synonym: "ERCC4 xeroderma pigmentosum" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "xeroderma pigmentosum 6" RELATED [OMIM:278760] synonym: "xeroderma pigmentosum caused by mutation in ERCC4" EXACT [MONDO:design_pattern] synonym: "xeroderma pigmentosum group F" EXACT [] synonym: "xeroderma pigmentosum group type F" EXACT [DOID:0110848, MONDORULE:1] synonym: "xeroderma pigmentosum VI" EXACT [DOID:0110848] synonym: "xeroderma pigmentosum, complementation group F" RELATED [MONDO:Lexical, OMIM:278760] synonym: "xeroderma pigmentosum, complementation group type F" EXACT [MONDORULE:1, OMIM:278760] synonym: "xeroderma pigmentosum, group F" EXACT [OMIM:278760, OMIM:genemap2] synonym: "xeroderma pigmentosum, type 6" RELATED [GARD:0005628] synonym: "xeroderma pigmentosum, type F/Cockayne syndrome" RELATED [OMIM:278760] synonym: "XP group F" EXACT [DOID:0110848, OMIM:278760] synonym: "XP, group F" EXACT [OMIM:278760] synonym: "XP-F" EXACT [NCIT:C3968] synonym: "XP6" EXACT ABBREVIATION [DOID:0110848] synonym: "XPF" EXACT ABBREVIATION [DOID:0110848, MONDO:Lexical, OMIM:278760] xref: DOID:0110848 {source="MONDO:equivalentTo"} xref: MESH:C562592 {source="MONDO:equivalentTo"} xref: NCIT:C3968 {source="MONDO:equivalentTo"} xref: OMIM:278760 {source="DOID:0110848", source="MONDO:equivalentTo"} xref: Orphanet:276264 {source="MONDO:equivalentObsolete", source="OMIM:278760"} xref: SCTID:42530008 {source="MONDO:equivalentTo"} is_a: MONDO:0016354 {source="Orphanet:220295/btnt"} ! xeroderma pigmentosum-Cockayne syndrome complex is_a: MONDO:0019600 {source="DC-OMIM:278760", source="DOID:0110848", source="MESH:C562592", source="MONDO:Redundant", source="NCIT:C3968"} ! xeroderma pigmentosum property_value: exactMatch DOID:0110848 property_value: exactMatch http://identifiers.org/mesh/C562592 property_value: exactMatch http://identifiers.org/snomedct/42530008 property_value: exactMatch https://omim.org/entry/278760 property_value: exactMatch NCIT:C3968 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010216 name: xeroderma pigmentosum group G def: "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC5 gene." [MONDO:patterns/disease_series_by_gene] comment: placement based on OMIM phenotypic series 214150. {source="OMIM:278780"} synonym: "ERCC5 xeroderma pigmentosum" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "xeroderma pigmentosum 7" RELATED [OMIM:278780] synonym: "xeroderma pigmentosum caused by mutation in ERCC5" EXACT [MONDO:design_pattern] synonym: "xeroderma pigmentosum complementation group G" RELATED [GARD:0005629] synonym: "xeroderma pigmentosum group G" EXACT [] synonym: "xeroderma pigmentosum group type G" EXACT [DOID:0110849, MONDORULE:1] synonym: "xeroderma pigmentosum type 7" RELATED [GARD:0005629] synonym: "xeroderma pigmentosum VII" EXACT [DOID:0110849] synonym: "xeroderma pigmentosum, complementation group G" RELATED [MONDO:Lexical, OMIM:278780] synonym: "xeroderma pigmentosum, complementation group type G" EXACT [MONDORULE:1, OMIM:278780] synonym: "xeroderma pigmentosum, group G" EXACT [OMIM:278780, OMIM:genemap2] synonym: "xeroderma pigmentosum, group G/Cockayne syndrome" EXACT [OMIM:278780, OMIM:genemap2] synonym: "xeroderma pigmentosum, type G/Cockayne syndrome" RELATED [OMIM:278780] synonym: "XP group G" EXACT [DOID:0110849] synonym: "XP, Group G" RELATED [OMIM:278780] synonym: "XP-G" EXACT [NCIT:C3969] synonym: "XP7" EXACT ABBREVIATION [DOID:0110849] synonym: "XPG" EXACT ABBREVIATION [DOID:0110849, MONDO:Lexical, OMIM:278780] xref: DOID:0110849 {source="MONDO:equivalentTo"} xref: MESH:C562593 {source="MONDO:equivalentTo"} xref: NCIT:C3969 {source="MONDO:equivalentTo"} xref: OMIM:278780 {source="MONDO:equivalentTo", source="DOID:0110849"} xref: Orphanet:276267 {source="OMIM:278780", source="MONDO:equivalentObsolete"} xref: SCTID:36454001 {source="MONDO:equivalentTo"} xref: UMLS:C0268141 {source="NCIT:C3969", source="OMIM:278780", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C1851443 {source="OMIM:278780", source="MONDO:directSiblingOf"} is_a: MONDO:0008926 {source="DC-OMIM:278780"} ! COFS syndrome is_a: MONDO:0016354 {source="Orphanet:220295/btnt"} ! xeroderma pigmentosum-Cockayne syndrome complex is_a: MONDO:0019600 {source="DC-OMIM:278780", source="DOID:0110849", source="MESH:C562593", source="MONDO:Redundant", source="NCIT:C3969"} ! xeroderma pigmentosum property_value: exactMatch DOID:0110849 property_value: exactMatch http://identifiers.org/mesh/C562593 property_value: exactMatch http://identifiers.org/snomedct/36454001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268141 property_value: exactMatch https://omim.org/entry/278780 property_value: exactMatch NCIT:C3969 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010217 name: de Sanctis-Cacchione syndrome def: "A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities." [NCIT:C84666] subset: gard_rare {source="GARD:0008276"} synonym: "de Sanctis-Cacchione syndrome" EXACT [OMIM:278800] synonym: "xerodermic idiocy" RELATED [GARD:0008276] xref: DOID:0112158 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535992 {source="MONDO:equivalentTo"} xref: NCIT:C84666 {source="MONDO:equivalentTo"} xref: OMIM:278800 {source="MONDO:equivalentTo"} xref: Orphanet:1569 {source="MONDO:equivalentObsolete", source="OMIM:278800"} xref: SCTID:414673004 {source="MONDO:equivalentTo"} xref: UMLS:C0265201 {source="NCIT:C84666", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:278800"} xref: UMLS:CN199649 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="MESH:C535992/inferred"} ! genetic disorder is_a: MONDO:0002254 {source="NCIT:C84666"} ! syndromic disease property_value: exactMatch DOID:0112158 property_value: exactMatch http://identifiers.org/mesh/C535992 property_value: exactMatch http://identifiers.org/snomedct/414673004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265201 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199649 property_value: exactMatch https://omim.org/entry/278800 property_value: exactMatch NCIT:C84666 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8276/de-sanctis-cacchione-syndrome xsd:anyURI {source="GARD:0008276"} [Term] id: MONDO:0010220 name: Young syndrome def: "Young syndrome is characterized by the association of obstructive azoospermia with recurrent sinobronchial infections." [Orphanet:3471] subset: gard_rare {source="GARD:0000341"} subset: ordo_disease {source="Orphanet:3471"} synonym: "azoospermia obstructive and chronic sinopulmonary infections" RELATED [GARD:0000341] synonym: "azoospermia, obstructive, and chronic sinopulmonary infections" RELATED [OMIM:279000] synonym: "azoospermia-sinopulmonary infections syndrome" EXACT [Orphanet:3471] synonym: "Barry Perkins Young syndrome" RELATED [GARD:0000341] synonym: "Barry-Perkins-Young syndrome" RELATED [OMIM:279000] synonym: "sinusitis-infertility syndrome" RELATED [OMIM:279000] synonym: "young syndrome" EXACT [OMIM:279000] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10063689 {source="Orphanet:3471/e", source="Orphanet:3471"} xref: MESH:C536718 {source="Orphanet:3471/e", source="MONDO:equivalentTo", source="Orphanet:3471"} xref: OMIM:279000 {source="Orphanet:3471/e", source="MONDO:equivalentTo", source="Orphanet:3471"} xref: Orphanet:3471 {source="OMIM:279000", source="MONDO:equivalentTo"} xref: SCTID:233666007 {source="MONDO:equivalentTo"} xref: UMLS:C0340037 {source="OMIM:279000", source="Orphanet:3471/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3471"} is_a: EFO:0000684 {source="MONDO:Redundant", source="Orphanet:3471"} ! respiratory system disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015510"} ! rare property_value: closeMatch http://identifiers.org/meddra/10063689 property_value: exactMatch http://identifiers.org/mesh/C536718 property_value: exactMatch http://identifiers.org/snomedct/233666007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0340037 property_value: exactMatch https://omim.org/entry/279000 property_value: exactMatch Orphanet:3471 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/341/young-syndrome xsd:anyURI {source="GARD:0000341"} [Term] id: MONDO:0010221 name: CHIME syndrome def: "CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." [Orphanet:3474] subset: ordo_malformation_syndrome {source="Orphanet:3474"} synonym: "CHIME" RELATED DEPRECATED [MONDO:Lexical, OMIM:280000] synonym: "CHIME syndrome" EXACT [OMIM:280000] synonym: "coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies syndrome" RELATED [MONDO:Lexical, OMIM:280000] synonym: "coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome" RELATED DEPRECATED [MONDO:Lexical, OMIM:280000] synonym: "coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome" EXACT [Orphanet:3474] synonym: "congenital disorder of glycosylation due to PIGL deficiency" EXACT [Orphanet:3474] synonym: "glycosylphosphatidylinositol biosynthesis defect 5" RELATED [OMIM:280000] synonym: "neuroectodermal dysplasia, CHIME type" EXACT [Orphanet:3474] synonym: "neuroectodermal syndrome, Zunich type" EXACT [Orphanet:3474] synonym: "PIGL-CDG" EXACT [Orphanet:3474] synonym: "Zunich neuroectodermal syndrome" RELATED [OMIM:280000] synonym: "Zunich-Kaye syndrome" EXACT [Orphanet:3474] xref: DOID:0112152 {source="MONDO:equivalentTo"} xref: MESH:C536729 {source="MONDO:equivalentTo"} xref: OMIM:280000 {source="Orphanet:3474", source="MONDO:equivalentTo", source="Orphanet:3474/e"} xref: Orphanet:3474 {source="MONDO:equivalentTo", source="OMIM:280000"} xref: SCTID:720639008 {source="MONDO:equivalentTo"} xref: UMLS:C1848392 {source="Orphanet:3474", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:280000"} is_a: EFO:0003777 {source="MONDO:0018290-obsoleted"} ! heart disease is_a: MONDO:0015159 {source="Orphanet:3474"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0015905 ! syndromic dyslipidemia is_a: MONDO:0017748 {source="Orphanet:3474"} ! inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation is_a: MONDO:0019287 {source="MESH:C536729/inferred", source="Orphanet:3474"} ! ectodermal dysplasia syndrome is_a: MONDO:0020145 {source="MONDO:0020149-obsoleted"} ! developmental defect of the eye property_value: exactMatch DOID:0112152 property_value: exactMatch http://identifiers.org/mesh/C536729 property_value: exactMatch http://identifiers.org/snomedct/720639008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848392 property_value: exactMatch https://omim.org/entry/280000 property_value: exactMatch Orphanet:3474 [Term] id: MONDO:0010222 name: X-linked Opitz G/BBB syndrome def: "X-linked form of Opitz G/BBB syndrome." [MONDO:patterns/x_linked] subset: ordo_etiological_subtype {source="Orphanet:306597"} synonym: "GBBB1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300000] synonym: "hypertelorism with esophageal Abnormality and hypospadias" RELATED [OMIM:300000] synonym: "hypertelorism-hypospadias syndrome" RELATED [OMIM:300000] synonym: "Opitz Bbbg syndrome, type 1" RELATED [OMIM:300000] synonym: "Opitz G/BBB syndrome, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "Opitz GBBB syndrome, type 1" RELATED [OMIM:300000] synonym: "Opitz GBBB syndrome, type I" RELATED [MONDO:Lexical, OMIM:300000] synonym: "Opitz GBBB syndrome, type I, X-linked recessive" EXACT [OMIM:300000, OMIM:genemap2] synonym: "Opitz GBBB syndrome, X-linked" RELATED [OMIM:300000] synonym: "Opitz syndrome" RELATED [OMIM:300000] synonym: "Opitz syndrome, X-linked" RELATED [OMIM:300000] synonym: "Opitz-G syndrome, type 1" RELATED [OMIM:300000] synonym: "telecanthus-hypospadias syndrome" RELATED [OMIM:300000] synonym: "X-linked Opitz BBB/G syndrome" EXACT [Orphanet:306597] synonym: "X-linked Opitz G/BBB syndrome" EXACT [] synonym: "X-linked Opitz syndrome" EXACT [Orphanet:306597] synonym: "XLOS" EXACT ABBREVIATION [Orphanet:306597] xref: OMIM:300000 {source="Orphanet:306597/e", source="MONDO:equivalentTo", source="Orphanet:306597"} xref: Orphanet:306597 {source="MONDO:equivalentObsolete", source="OMIM:300000"} is_a: MONDO:0000425 ! X-linked disease is_a: MONDO:0017138 {source="DC-OMIM:300000", source="MONDO:Redundant", source="OMIM:300000", source="Orphanet:306597"} ! Opitz G/BBB syndrome property_value: exactMatch https://omim.org/entry/300000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010224 name: corpus callosum agenesis-abnormal genitalia syndrome def: "Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (large eyes, prominent supraorbital ridges, synophris) and optic atrophy have been observed." [Orphanet:2508] subset: ordo_malformation_syndrome {source="Orphanet:2508"} synonym: "ACC with abnormal genitalia" RELATED [OMIM:300004] synonym: "ACC-abnormal genitalia syndrome" EXACT [Orphanet:2508] synonym: "corpus callosum, agenesis of, with abnormal genitalia" RELATED [OMIM:300004] synonym: "microcephaly-corpus callosum agenesis-abnormal genitalia syndrome" EXACT [Orphanet:2508] synonym: "New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum" RELATED [GARD:0004528] synonym: "Proud Levine Carpenter syndrome" RELATED [GARD:0004528] synonym: "Proud syndrome" EXACT [OMIM:300004, Orphanet:2508] synonym: "Proud-Levine-Carpenter syndrome" EXACT [Orphanet:2508] xref: DOID:0112151 {source="MONDO:equivalentTo"} xref: MESH:C563110 {source="MONDO:equivalentTo"} xref: OMIM:300004 {source="Orphanet:2508/e", source="MONDO:equivalentTo", source="Orphanet:2508"} xref: Orphanet:2508 {source="MONDO:equivalentTo", source="OMIM:300004"} xref: SCTID:763797003 {source="MONDO:equivalentTo"} xref: UMLS:C0796124 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300004"} is_a: MONDO:0018496 {source="Orphanet:2508"} ! ARX-related encephalopathy-brain malformation spectrum property_value: exactMatch DOID:0112151 property_value: exactMatch http://identifiers.org/mesh/C563110 property_value: exactMatch http://identifiers.org/snomedct/763797003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796124 property_value: exactMatch https://omim.org/entry/300004 property_value: exactMatch Orphanet:2508 [Term] id: MONDO:0010225 name: Dent disease type 1 def: "Dent disease type 1 is a type of Dent disease with predominantly renal manifestations." [Orphanet:93622] subset: ordo_clinical_subtype {source="Orphanet:93622"} synonym: "CLCN5 Dent disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "DENT disease 1" RELATED [OMIM:300009] synonym: "dent disease 1, X-linked recessive" EXACT [OMIM:300009, OMIM:genemap2] synonym: "Dent disease caused by mutation in CLCN5" EXACT [MONDO:design_pattern] synonym: "Dent disease type 1" EXACT [MONDORULE:1, OMIM:300009] synonym: "nephrolithiasis 2" RELATED [OMIM:300009] synonym: "nephrolithiasis type 1" EXACT [Orphanet:93622] synonym: "nephrolithiasis, hypercalciuric, X-linked" RELATED [OMIM:300009] synonym: "urolithiasis, hypercalciuric, X-linked" RELATED [OMIM:300009] xref: DOID:0111798 {source="MONDO:equivalentTo"} xref: OMIM:300009 {source="MONDO:equivalentTo", source="Orphanet:93622", source="Orphanet:93622/e"} xref: Orphanet:93622 {source="MONDO:equivalentTo", source="OMIM:300009"} xref: SCTID:717789008 {source="MONDO:equivalentTo"} xref: UMLS:C4305530 {source="MONDO:equivalentObsolete"} xref: UMLS:CN206679 {source="MONDO:equivalentTo"} is_a: MONDO:0015612 {source="DC-OMIM:300009", source="MONDO:Redundant", source="OMIM:300009", source="Orphanet:93622"} ! Dent disease property_value: exactMatch DOID:0111798 property_value: exactMatch http://identifiers.org/snomedct/717789008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206679 property_value: exactMatch https://omim.org/entry/300009 property_value: exactMatch Orphanet:93622 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010233 name: heterotopia, periventricular, X-linked dominant synonym: "bilateral periventricular nodular heterotopia" RELATED [GARD:0007371] synonym: "BPNH" RELATED ABBREVIATION [GARD:0007371] synonym: "heterotopia familial nodular" RELATED [GARD:0007371] synonym: "heterotopia periventricular X-linked dominant" RELATED [GARD:0007371] synonym: "heterotopia, familial nodular" RELATED [OMIM:300049] synonym: "heterotopia, periventricular nodular, with Frontometaphyseal dysplasia" RELATED [OMIM:300049] synonym: "heterotopia, periventricular, 1, X-linked dominant" EXACT [OMIM:300049, OMIM:genemap2] synonym: "heterotopia, periventricular, Ehlers-Danlos variant" EXACT [OMIM:300049] synonym: "heterotopia, periventricular, X-linked dominant" EXACT [OMIM:300049] synonym: "NHBP" RELATED ABBREVIATION [GARD:0007371] synonym: "nodular heterotopia bilateral periventricular" RELATED [GARD:0007371] synonym: "nodular heterotopia, bilateral periventricular" RELATED [OMIM:300049] synonym: "periventricular nodular heterotopia 1" RELATED [OMIM:300049] synonym: "periventricular nodular heterotopia 4" RELATED [OMIM:300049] synonym: "periventricular nodular heterotopia 4, formerly" RELATED [OMIM:300049] synonym: "PVNH1" RELATED ABBREVIATION [GARD:0007371, OMIM:300049] synonym: "X-linked periventricular heterotopia" RELATED [GARD:0007371] xref: ICD9:742.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:300049 {source="MONDO:equivalentTo"} xref: SCTID:448227009 {source="MONDO:equivalentTo"} is_a: MONDO:0020341 {source="DC-OMIM:300049"} ! periventricular nodular heterotopia property_value: exactMatch http://identifiers.org/snomedct/448227009 property_value: exactMatch https://omim.org/entry/300049 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010235 name: X-linked intellectual disability-psychosis-macroorchidism syndrome subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:3077"} synonym: "intellectual deficit, X-linked - psychosis - macroorchidism" RELATED [GARD:0003506] synonym: "intellectual developmental disorder, X-linked, syndromic 13, X-linked recessive" EXACT [OMIM:300055, OMIM:genemap2] synonym: "intellectual disability psychosis macroorchidism" RELATED [GARD:0003506] synonym: "intellectual disability with psychosis, pyramidal signs, and macroorchidism" EXACT [DOID:0060827] synonym: "intellectual disability, X-linked 16" RELATED [OMIM:300055] synonym: "intellectual disability, X-linked 79" RELATED [OMIM:300055] synonym: "intellectual disability, X-linked, syndromic 13" EXACT [DOID:0060827, GARD:0003506, MONDO:Lexical, OMIM:300055] synonym: "intellectual disability, X-linked, syndromic type 13" EXACT [MONDORULE:2, OMIM:300055] synonym: "intellectual disability, X-linked, with spasticity" RELATED [OMIM:300055] synonym: "Lindsay-Burn syndrome" EXACT [DOID:0060827, Orphanet:3077] synonym: "mental retardation psychosis macroorchidism" RELATED DEPRECATED [GARD:0003506] synonym: "mental retardation with psychosis, pyramidal signs, and macroorchidism" EXACT DEPRECATED [DOID:0060827] synonym: "mental retardation, X-linked 16" RELATED DEPRECATED [OMIM:300055] synonym: "mental retardation, X-linked 79" RELATED DEPRECATED [OMIM:300055] synonym: "mental retardation, X-linked, syndromic 13" EXACT DEPRECATED [DOID:0060827, GARD:0003506, MONDO:Lexical, OMIM:300055] synonym: "mental retardation, X-linked, syndromic type 13" EXACT DEPRECATED [MONDORULE:2, OMIM:300055] synonym: "mental retardation, X-linked, with spasticity" RELATED DEPRECATED [OMIM:300055] synonym: "MRXS13" EXACT ABBREVIATION [DOID:0060827, GARD:0003506, MONDO:Lexical, OMIM:300055] synonym: "PPM-X" EXACT [DOID:0060827, Orphanet:3077] synonym: "PPM-X syndrome" RELATED [GARD:0003506] synonym: "X-linked intellectual disability 79" EXACT [DOID:0060827] synonym: "X-linked intellectual disability with spasticity" EXACT [DOID:0060827] synonym: "X-linked mental retardation 79" EXACT DEPRECATED [DOID:0060827] synonym: "X-linked mental retardation with spasticity" EXACT DEPRECATED [DOID:0060827] xref: DOID:0060827 {source="MONDO:equivalentTo"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:300055 {source="Orphanet:3077/e", source="MONDO:equivalentTo", source="GARD:0003506", source="Orphanet:3077", source="DOID:0060827"} xref: Orphanet:3077 {source="OMIM:300055", source="MONDO:equivalentTo", source="GARD:0003506", source="DOID:0060827"} xref: SCTID:702356009 {source="MONDO:equivalentTo"} is_a: MONDO:0020119 {source="DC-OMIM:300055", source="DOID:0060827", source="OMIM:300055", source="Orphanet:3077", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch DOID:0060827 property_value: exactMatch http://identifiers.org/snomedct/702356009 property_value: exactMatch https://omim.org/entry/300055 property_value: exactMatch Orphanet:3077 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3506/ppm-x-syndrome xsd:anyURI {source="GARD:0003506"} [Term] id: MONDO:0010237 name: X-linked intellectual disability-plagiocephaly syndrome def: "X-linked intellectual disability-plagiocephaly syndrome is characterized by severe intellectual deficit, brachycephaly, plagiocephaly, prominent forehead and coarse facial features. It has been described in two males from one family. Two females belonging to the same family displayed moderate intellectual deficit but no craniofacial dysmorphism." [Orphanet:2898] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2898"} synonym: "Hyde Forster McCarthy Berry syndrome" RELATED [GARD:0002765] synonym: "Hyde Forster-McCarthy-Berry syndrome" EXACT [Orphanet:2898] synonym: "intellectual disability, plagiocephaly, brachycephaly, prominent forehead, and coarse facial features" RELATED [GARD:0004377] synonym: "intellectual disability, X-linked Hyde-Forster type" RELATED [GARD:0004377] synonym: "intellectual disability, X-linked, Hyde-Forster type" RELATED [OMIM:300064] synonym: "intellectual disability, X-linked, with craniofacial dysmorphism" RELATED [OMIM:300064] synonym: "mental retardation, plagiocephaly, brachycephaly, prominent forehead, and coarse facial features" RELATED DEPRECATED [GARD:0004377] synonym: "mental retardation, X-linked Hyde-Forster type" RELATED DEPRECATED [GARD:0004377] synonym: "mental retardation, X-linked, Hyde-Forster type" RELATED DEPRECATED [OMIM:300064] synonym: "mental retardation, X-linked, with craniofacial dysmorphism" RELATED DEPRECATED [OMIM:300064] synonym: "plagiocephaly and X-linked intellectual disability" RELATED [GARD:0004377] synonym: "plagiocephaly and X-linked mental retardation" RELATED DEPRECATED [GARD:0004377] xref: MESH:C537512 {source="MONDO:equivalentTo"} xref: OMIM:300064 {source="GARD:0004377", source="MONDO:equivalentTo", source="Orphanet:2898", source="Orphanet:2898/e"} xref: Orphanet:2898 {source="OMIM:300064", source="MONDO:equivalentTo"} xref: SCTID:719812008 {source="MONDO:equivalentTo"} xref: UMLS:C2931516 {source="OMIM:300064", source="MONDO:equivalentTo", source="Orphanet:2898", source="Orphanet:2898/e"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:2898"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015338 {source="Orphanet:2898"} ! syndromic craniosynostosis is_a: MONDO:0020119 {source="Orphanet:2898", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch http://identifiers.org/mesh/C537512 property_value: exactMatch http://identifiers.org/snomedct/719812008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931516 property_value: exactMatch https://omim.org/entry/300064 property_value: exactMatch Orphanet:2898 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010239 name: lissencephaly type 1 due to doublecortin gene mutation def: "Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterized by intellectual deficiency and seizures that are more severe in male patients." [Orphanet:2148] subset: gard_rare subset: ordo_disease {source="Orphanet:2148"} synonym: "Dc syndrome" RELATED [OMIM:300067] synonym: "Double cortex syndrome" RELATED [OMIM:300067] synonym: "lissencephaly and agenesis of corpus callosum" RELATED [GARD:0006914, OMIM:300067] synonym: "lissencephaly type 1 due to doublecortin gene mutation" EXACT [] synonym: "lissencephaly X-linked" RELATED [GARD:0006914] synonym: "lissencephaly, X-linked" EXACT [OMIM:300067, OMIM:genemap2] synonym: "lissencephaly, X-linked, 1" RELATED [MONDO:Lexical, OMIM:300067] synonym: "lissencephaly, X-linked, type 1" EXACT [MONDORULE:1, OMIM:300067] synonym: "LISX" RELATED ABBREVIATION [GARD:0006914] synonym: "LISX1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300067] synonym: "subcortical band heterotopia, X-linked" RELATED [OMIM:300067] synonym: "subcortical laminal heterotopia, X-linked" EXACT [OMIM:300067, OMIM:genemap2] synonym: "subcortical laminar heterotopia, X-linked" RELATED [OMIM:300067] synonym: "subcortical laminar heterotopia, X-linked," RELATED [GARD:0006914] synonym: "X-linked lissencephaly" RELATED [GARD:0006914] synonym: "X-linked lissencephaly type 1" EXACT [Orphanet:2148] synonym: "XLIS" RELATED ABBREVIATION [GARD:0006914] synonym: "Xlis" RELATED [OMIM:300067] xref: DOID:0112239 {source="MONDO:equivalentTo"} xref: OMIM:300067 {source="Orphanet:2148", source="GARD:0006914", source="MONDO:equivalentTo", source="Orphanet:2148/e"} xref: Orphanet:2148 {source="OMIM:300067", source="MONDO:equivalentTo"} xref: SCTID:715780008 {source="MONDO:equivalentTo"} xref: UMLS:C1848199 {source="OMIM:300067", source="Orphanet:2148", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4275012 {source="MONDO:equivalentTo"} is_a: MONDO:0015146 {source="Orphanet:2148"} ! classic lissencephaly is_a: MONDO:0020491 ! subcortical band heterotopia property_value: exactMatch DOID:0112239 property_value: exactMatch http://identifiers.org/snomedct/715780008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848199 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275012 property_value: exactMatch https://omim.org/entry/300067 property_value: exactMatch Orphanet:2148 property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:2148"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6914/lissencephaly-x-linked xsd:anyURI {source="GARD:0006914"} [Term] id: MONDO:0010243 name: X-linked immunoneurologic disorder def: "X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males." [Orphanet:2571] subset: ordo_disease {source="Orphanet:2571"} synonym: "immunoneurologic disorder, X-linked" EXACT [OMIM:300076] synonym: "neonatal death immune deficiency" EXACT [GARD:0000274] synonym: "Woods Black Norbury syndrome" EXACT [GARD:0000274] synonym: "Woods-Black-Norbury syndrome" EXACT [OMIM:300076, Orphanet:2571] synonym: "Woods-Black-Norbury syndrome, X-linked dominant" EXACT [OMIM:300076, OMIM:genemap2] synonym: "X-linked immunoneurological disorder" EXACT [GARD:0000274] xref: MESH:C536743 {source="MONDO:equivalentTo"} xref: OMIM:300076 {source="Orphanet:2571/e", source="MONDO:equivalentTo", source="Orphanet:2571"} xref: Orphanet:2571 {source="OMIM:300076", source="MONDO:equivalentTo"} xref: SCTID:719827008 {source="MONDO:equivalentTo"} xref: UMLS:C1848144 {source="OMIM:300076", source="Orphanet:2571/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2571"} is_a: MONDO:0000425 ! X-linked disease is_a: MONDO:0015132 {source="MONDO:0018038-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! immunodeficiency predominantly affecting antibody production property_value: exactMatch http://identifiers.org/mesh/C536743 property_value: exactMatch http://identifiers.org/snomedct/719827008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848144 property_value: exactMatch https://omim.org/entry/300076 property_value: exactMatch Orphanet:2571 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010246 name: developmental and epileptic encephalopathy, 9 def: "Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance." [Orphanet:101039] subset: ordo_disease {source="Orphanet:101039"} synonym: "DEE9" EXACT ABBREVIATION [OMIM:300088] synonym: "developmental and epileptic encephalopathy 9" EXACT [OMIM:300088, OMIM:genemap2] synonym: "developmental and epileptic encephalopathy, 9" EXACT [] synonym: "early infantile epileptic encephalopathy 9" EXACT [OMIM:300088] synonym: "early infantile epileptic encephalopathy caused by mutation in PCDH19" EXACT [MONDO:design_pattern] synonym: "early infantile epileptic encephalopathy type 9" EXACT [DOID:0060848, MONDORULE:1] synonym: "early infantile female-limited epilecptic encephalopathy" EXACT [DOID:0060848] synonym: "EFMR" EXACT ABBREVIATION [DOID:0060848, Orphanet:101039] synonym: "EIEE9" EXACT ABBREVIATION [DOID:0060848, MONDO:Lexical, OMIM:300088] synonym: "epilepsy and intellectual disability limited to females" RELATED [GARD:0010806] synonym: "epilepsy and mental retardation limited to females" RELATED DEPRECATED [GARD:0010806] synonym: "epilepsy, female restricted, with intellectual disability" RELATED [GARD:0010806] synonym: "epilepsy, female restricted, with mental retardation" RELATED DEPRECATED [GARD:0010806] synonym: "epilepsy, female-restricted, with intellectual disability" RELATED [OMIM:300088] synonym: "epilepsy, female-restricted, with mental retardation" RELATED DEPRECATED [OMIM:300088] synonym: "epileptic encephalopathy, early infantile, 9" EXACT [MONDO:Lexical, OMIM:300088] synonym: "epileptic encephalopathy, early infantile, type 9" EXACT [MONDORULE:1, OMIM:300088] synonym: "familial epilepsy and intellectual disability limited to females" EXACT [Orphanet:101039] synonym: "familial epilepsy and mental retardation limited to females" EXACT DEPRECATED [Orphanet:101039] synonym: "female restricted epilepsy with intellectual deficit" RELATED [GARD:0010806] synonym: "female restricted epilepsy with intellectual disability" EXACT [DOID:0060848, Orphanet:101039] synonym: "female restricted epilepsy with mental retardation" EXACT DEPRECATED [DOID:0060848] synonym: "Juberg Hellman syndrome" EXACT [DOID:0060848] synonym: "Juberg-Hellman syndrome" EXACT [OMIM:300088, Orphanet:101039] synonym: "PCDH19 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "PCDH19-related female-limited epilepsy" RELATED [GARD:0010806] synonym: "PCDH19-related FLE" RELATED [GARD:0010806] synonym: "PCDH19-related infantile epileptic encephalopathy" RELATED [GARD:0010806] xref: DOID:0060848 {source="MONDO:equivalentTo"} xref: MESH:C564715 {source="MONDO:equivalentTo"} xref: OMIM:300088 {source="MONDO:equivalentTo", source="Orphanet:101039", source="DOID:0060848", source="Orphanet:101039/e"} xref: Orphanet:101039 {source="OMIM:300088", source="MONDO:equivalentTo", source="DOID:0060848"} xref: UMLS:C1848137 {source="OMIM:300088", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:101039"} is_a: MONDO:0016160 {source="Orphanet:101039"} ! X-linked intellectual disability-epilepsy syndrome is_a: MONDO:0100062 {source="DC-OMIM:300088", source="DOID:0060848", source="MONDO:Redundant", source="OMIM:300088"} ! developmental and epileptic encephalopathy is_a: MONDO:0100148 ! X-linked complex neurodevelopmental disorder property_value: exactMatch DOID:0060848 property_value: exactMatch http://identifiers.org/mesh/C564715 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848137 property_value: exactMatch https://omim.org/entry/300088 property_value: exactMatch Orphanet:101039 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010247 name: X-linked cerebral adrenoleukodystrophy def: "A peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." [Orphanet:139396] subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:139396"} synonym: "Addison disease and cerebral sclerosis" RELATED [OMIM:300100] synonym: "adrenoleukodystrophy" RELATED [MONDO:Lexical, OMIM:300100] synonym: "adrenoleukodystrophy childhood cerebral form" RELATED [GARD:0009412] synonym: "adrenoleukodystrophy X-linked cerebral form" RELATED [GARD:0009412] synonym: "adrenomyeloneuropathy" RELATED [OMIM:300100] synonym: "ALD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300100] synonym: "ALD childhood cerebral form" RELATED [GARD:0009412] synonym: "bronze Schilder disease" RELATED [OMIM:300100] synonym: "childhood cerebral ALD" RELATED [GARD:0009412] synonym: "childhood-onset cerebral X-linked adrenoleukodystrophy" RELATED [GARD:0009412] synonym: "melanodermic leukodystrophy" RELATED [OMIM:300100] synonym: "Siemerling-Creutzfeldt disease" RELATED [OMIM:300100] synonym: "X-linked cerebral adrenoleukodystrophy" EXACT [Orphanet:139396] xref: Orphanet:139396 {source="OMIM:300100", source="MONDO:equivalentTo", source="GARD:0009412"} xref: UMLS:CN036464 {source="MONDO:equivalentTo"} xref: UMLS:CN199389 {source="MONDO:equivalentTo"} is_a: MONDO:0018544 {source="Orphanet:139396"} ! adrenoleukodystrophy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN036464 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199389 property_value: exactMatch Orphanet:139396 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9412/childhood-onset-cerebral-x-linked-adrenoleukodystrophy xsd:anyURI {source="GARD:0009412"} [Term] id: MONDO:0010248 name: X-linked spondyloepimetaphyseal dysplasia def: "X-linked form of spondyloepimetaphyseal dysplasia." [MONDO:patterns/x_linked] subset: gard_rare {source="GARD:0004979"} subset: ordo_disease {source="Orphanet:93349"} synonym: "SEMD X-linked" RELATED [GARD:0004979] synonym: "SEMD, X-linked" RELATED [OMIM:300106] synonym: "SEMDX" RELATED ABBREVIATION [GARD:0004979, OMIM:300106] synonym: "spondylo-epimetaphyseal dysplasia" RELATED [GARD:0004979] synonym: "spondyloepimetaphyseal dysplasia X-linked" RELATED [GARD:0004979] synonym: "spondyloepimetaphyseal dysplasia, X-linked" EXACT [MONDO:patterns/x_linked, OMIM:300106] synonym: "spondyloepimetaphyseal dysplasia, X-linked, X-linked recessive" EXACT [OMIM:300106, OMIM:genemap2] xref: DOID:0112150 {source="MONDO:equivalentTo"} xref: MESH:C564714 {source="MONDO:equivalentTo"} xref: OMIM:300106 {source="Orphanet:93349/e", source="MONDO:equivalentTo", source="Orphanet:93349"} xref: Orphanet:93349 {source="MONDO:equivalentTo", source="OMIM:300106"} xref: UMLS:C1848097 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300106", source="Orphanet:93349"} is_a: MONDO:0016761 {source="DC-OMIM:300106", source="MONDO:Entailed", source="MONDO:Redundant", source="Orphanet:93349", source="PMID:31633310"} ! spondyloepiphyseal dysplasia property_value: exactMatch DOID:0112150 property_value: exactMatch http://identifiers.org/mesh/C564714 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848097 property_value: exactMatch https://omim.org/entry/300106 property_value: exactMatch Orphanet:93349 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4979/spondyloepimetaphyseal-dysplasia-x-linked xsd:anyURI {source="GARD:0004979"} [Term] id: MONDO:0010255 name: diabetes mellitus, insulin-dependent, X-linked, susceptibility to subset: predisposition synonym: "diabetes mellitus, insulin-dependent, X-linked" EXACT [OMIM:300136, OMIM:genemap2] synonym: "diabetes mellitus, insulin-dependent, X-linked, susceptibility to" EXACT [OMIM:300136] synonym: "Iddmx" RELATED [OMIM:300136] synonym: "insulin-dependent diabetes mellitus, X-linked, susceptibility to" RELATED [OMIM:300136] xref: OMIM:300136 {source="MONDO:equivalentTo"} xref: UMLS:C1848042 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300136"} is_a: MONDO:0020573 ! inherited disease susceptibility intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: predisposes_towards MONDO:0005147 ! type 1 diabetes mellitus relationship: predisposes_towards MONDO:0005147 ! type 1 diabetes mellitus property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848042 property_value: exactMatch https://omim.org/entry/300136 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010256 name: intellectual disability, X-linked 21 def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the IL1RAPL1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "IL1RAPL1 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "intellectual developmental disorder, X-linked 21, X-linked recessive" EXACT [OMIM:300143, OMIM:genemap2] synonym: "intellectual disability, X-linked 21" EXACT [MONDO:Lexical, OMIM:300143] synonym: "intellectual disability, X-linked 34" RELATED [OMIM:300143] synonym: "intellectual disability, X-linked type 21" EXACT [MONDORULE:2, OMIM:300143] synonym: "mental retardation, X-linked 21" RELATED DEPRECATED [MONDO:Lexical, OMIM:300143] synonym: "mental retardation, X-linked 34" RELATED DEPRECATED [OMIM:300143] synonym: "mental retardation, X-linked type 21" EXACT DEPRECATED [MONDORULE:2, OMIM:300143] synonym: "MRX21" RELATED DEPRECATED [MONDO:Lexical, OMIM:300143] synonym: "non-syndromic X-linked intellectual disability caused by mutation in IL1RAPL1" EXACT [MONDO:design_pattern] xref: DOID:0112022 {source="MONDO:equivalentTo"} xref: OMIM:300143 {source="MONDO:equivalentTo"} is_a: MONDO:0019181 {source="DC-OMIM:300143", source="MONDO:Redundant", source="OMIM:300143"} ! non-syndromic X-linked intellectual disability property_value: exactMatch DOID:0112022 property_value: exactMatch https://omim.org/entry/300143 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010258 name: MEHMO syndrome def: "MEHMO syndrome is characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localized to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction." [Orphanet:85282] subset: ordo_malformation_syndrome {source="Orphanet:85282"} synonym: "intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity" EXACT [DOID:0060801, GARD:0009178, MONDO:Lexical, OMIM:300148] synonym: "intellectual disability, X-linked, syndromic 20" EXACT [OMIM:300148] synonym: "intellectual disability, X-linked, syndromic 25" EXACT [OMIM:300148] synonym: "intellectual disability, X-linked, syndromic, Borck type" EXACT [OMIM:300987] synonym: "intellectual disability, X-linked, syndromic, Borck type; MRXSBRK" EXACT [] synonym: "MEHMO" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300148] synonym: "MEHMO syndrome" EXACT [OMIM:300148] synonym: "MEHMO syndrome, X-linked recessive" EXACT [OMIM:300148, OMIM:genemap2] synonym: "mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity" EXACT DEPRECATED [DOID:0060801, MONDO:Lexical, OMIM:300148] synonym: "mental retardation, X-linked, syndromic 20" RELATED DEPRECATED [OMIM:300148] synonym: "mental retardation, X-linked, syndromic 25" RELATED DEPRECATED [OMIM:300148] synonym: "mental retardation, X-linked, syndromic, Borck type" EXACT DEPRECATED [OMIM:300987] synonym: "MRXS20" EXACT ABBREVIATION [DOID:0060801] synonym: "MRXS25" EXACT ABBREVIATION [DOID:0060801] synonym: "MRXSBRK" EXACT ABBREVIATION [OMIM:300987] synonym: "syndromic X-linked intellectual disability 20" EXACT [DOID:0060801] synonym: "syndromic X-linked intellectual disability 25" EXACT [DOID:0060801] synonym: "syndromic X-linked mental retardation 20" EXACT DEPRECATED [DOID:0060801] synonym: "syndromic X-linked mental retardation 25" EXACT DEPRECATED [DOID:0060801] synonym: "X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome" EXACT [DOID:0060801, Orphanet:85282] synonym: "X-linked MEHMO syndrome" RELATED [GARD:0009178] xref: DOID:0060801 {source="MONDO:equivalentTo"} xref: MESH:C537451 {source="Orphanet:85282/e", source="MONDO:equivalentTo", source="Orphanet:85282", source="DOID:0060801"} xref: OMIM:300148 {source="Orphanet:85282/e", source="MONDO:equivalentTo", source="Orphanet:85282", source="DOID:0060801"} xref: OMIM:300987 {source="MONDO:equivalentObsolete"} xref: Orphanet:85282 {source="MONDO:equivalentTo", source="OMIM:300148", source="DOID:0060801"} xref: SCTID:722037004 {source="MONDO:equivalentTo"} xref: UMLS:C1846278 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300148", source="Orphanet:85282"} xref: UMLS:C4310813 {source="MONDO:equivalentObsolete", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch DOID:0060801 property_value: exactMatch http://identifiers.org/mesh/C537451 property_value: exactMatch http://identifiers.org/snomedct/722037004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846278 property_value: exactMatch https://omim.org/entry/300148 property_value: exactMatch Orphanet:85282 property_value: excluded_subClassOf MONDO:0016402 {source="Orphanet:85282"} property_value: excluded_subClassOf MONDO:0016403 {source="Orphanet:85282"} property_value: excluded_subClassOf MONDO:0016565 {source="Orphanet:85282"} property_value: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:300148", source="DC-OMIM:300987", source="DOID:0060801", source="OMIM:300148", source="Orphanet:85282"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010261 name: microphthalmia, syndromic 2 subset: ordo_malformation_syndrome {source="Orphanet:2712"} synonym: "ANOP2 (formerly)" RELATED [GARD:0004628, OMIM:300166] synonym: "cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome" EXACT [Orphanet:2712] synonym: "MAA2 (formerly)" RELATED [GARD:0004628, OMIM:300166] synonym: "MCOPS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300166] synonym: "microphthalmia cataracts radiculomegaly and septal heart defects" RELATED [GARD:0004628] synonym: "microphthalmia syndromic 2" EXACT [GARD:0004628] synonym: "microphthalmia, cataracts, radiculomegaly, and septal heart defects" RELATED [OMIM:300166] synonym: "microphthalmia, syndromic 2" EXACT [MONDO:Lexical, OMIM:300166] synonym: "microphthalmia, syndromic 2, X-linked dominant" EXACT [OMIM:300166, OMIM:genemap2] synonym: "microphthalmia, syndromic type 2" EXACT [MONDORULE:1, OMIM:300166] synonym: "oculofaciocardiodental syndrome" EXACT [OMIM:300166] synonym: "OFCD syndrome" EXACT [OMIM:300166, Orphanet:2712] synonym: "syndromic microphthalmia type 2" RELATED [GARD:0004628] xref: DOID:0111809 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:300166 {source="MONDO:equivalentTo"} xref: Orphanet:2712 {source="OMIM:300166", source="MONDO:equivalentTo"} xref: Orphanet:568 {source="OMIM:300166", source="MONDO:directSiblingOf"} xref: SCTID:699300009 {source="MONDO:equivalentTo"} is_a: MONDO:0016073 {source="DC-OMIM:300166", source="OMIM:300166", source="Orphanet:2712"} ! syndromic microphthalmia property_value: exactMatch DOID:0111809 property_value: exactMatch http://identifiers.org/snomedct/699300009 property_value: exactMatch https://omim.org/entry/300166 property_value: exactMatch Orphanet:2712 property_value: excluded_subClassOf MONDO:0005328 {source="MONDO:0020222-obsoleted"} property_value: excluded_subClassOf MONDO:0015159 {source="Orphanet:2712"} property_value: excluded_subClassOf MONDO:0018924 {source="Orphanet:2712"} property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:2712"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2999 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010263 name: Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome subset: ordo_disease {source="Orphanet:86818"} synonym: "Alport syndrome, intellectual disability, midface hypoplasia, and elliptocytosis" RELATED [OMIM:300194] synonym: "Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis" RELATED DEPRECATED [OMIM:300194] synonym: "AMME complex" EXACT [OMIM:300194, Orphanet:86818] synonym: "AMME syndrome" EXACT [Orphanet:86818] synonym: "ATS-MR" EXACT [Orphanet:86818] synonym: "Ats-Mr" RELATED [OMIM:300194] synonym: "chromosome Xq22.3 telomeric deletion syndrome" RELATED [OMIM:300194] xref: DOID:0111860 {source="MONDO:equivalentTo"} xref: MESH:C564570 {source="MONDO:equivalentTo"} xref: OMIM:300194 {source="Orphanet:86818/e", source="MONDO:equivalentTo", source="Orphanet:86818"} xref: Orphanet:86818 {source="OMIM:300194", source="MONDO:equivalentTo"} xref: SCTID:720982007 {source="MONDO:equivalentTo"} xref: UMLS:C1846242 {source="OMIM:300194", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:86818"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015910"} ! rare property_value: exactMatch DOID:0111860 property_value: exactMatch http://identifiers.org/mesh/C564570 property_value: exactMatch http://identifiers.org/snomedct/720982007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846242 property_value: exactMatch https://omim.org/entry/300194 property_value: exactMatch Orphanet:86818 property_value: excluded_subClassOf MONDO:0015159 {source="Orphanet:86818"} property_value: excluded_subClassOf MONDO:0017007 {source="Orphanet:86818"} property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:86818"} [Term] id: MONDO:0010264 name: X-linked adrenal hypoplasia congenita def: "A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism." [NCIT:C123725] subset: ordo_disease {source="Orphanet:95702"} synonym: "Addison disease, X-linked" RELATED [OMIM:300200] synonym: "adrenal hypoplasia congenita" BROAD [NCIT:C123725] synonym: "adrenal hypoplasia, congenital" RELATED [MONDO:Lexical, OMIM:300200] synonym: "adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism" RELATED [OMIM:300200] synonym: "adrenal hypoplasia, congenital, with precocious puberty" RELATED [OMIM:300200] synonym: "adrenal hypoplasia, congenital, X-linked recessive" EXACT [OMIM:300200, OMIM:genemap2] synonym: "adrenal insufficiency, progressive, and hypogonadotropic hypogonadism" RELATED [OMIM:300200] synonym: "AHC" BROAD ABBREVIATION [MONDO:Lexical, OMIM:300200] synonym: "AHC with HHG" RELATED [OMIM:300200] synonym: "AHC with isolated gonadotropin deficiency" RELATED [OMIM:300200] synonym: "congenital adrenal hypoplasia" EXACT [DOID:0080156] synonym: "cytomegalic adrenocortical hypoplasia" RELATED [OMIM:300200] synonym: "cytomegalic congenital adrenal hypoplasia" RELATED [Orphanet:95702] synonym: "mineralocorticoid deficiency, isolated" RELATED [OMIM:300200] synonym: "X-linked adrenal hypoplasia congenita" EXACT [] synonym: "X-linked AHC" RELATED [GARD:0000555] synonym: "X-linked congenital adrenal hypoplasia" EXACT [Orphanet:95702] xref: DOID:0080156 {source="MONDO:equivalentTo"} xref: NCIT:C123725 {source="MONDO:equivalentTo"} xref: OMIM:300200 {source="DOID:0080156", source="MONDO:equivalentTo", source="Orphanet:95702", source="Orphanet:95702/e"} xref: Orphanet:95702 {source="MONDO:equivalentTo", source="OMIM:300200"} xref: SCTID:93235007 {source="MONDO:equivalentTo"} xref: UMLS:C0342482 {source="NCIT:C123725", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:95702"} is_a: MONDO:0000425 ! X-linked disease is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015129 {source="Orphanet:95702", source="Orphanet:95702/inferred"} ! chronic primary adrenal insufficiency is_a: MONDO:0015770 {source="MONDO:0015891-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! congenital hypogonadotropic hypogonadism is_a: MONDO:0016241 {source="NCIT:C123725"} ! alternating hemiplegia of childhood property_value: exactMatch DOID:0080156 property_value: exactMatch http://identifiers.org/snomedct/93235007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342482 property_value: exactMatch https://omim.org/entry/300200 property_value: exactMatch NCIT:C123725 property_value: exactMatch Orphanet:95702 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010265 name: Simpson-Golabi-Behmel syndrome type 2 def: "Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported." [Orphanet:79022] subset: ordo_malformation_syndrome {source="Orphanet:79022"} synonym: "lethal variant of Simpson-Golabi-Behmel syndrome" EXACT [Orphanet:79022] synonym: "OFD1 Simpson-Golabi-Behmel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SGBS2" EXACT ABBREVIATION [Orphanet:79022] synonym: "Sgbs2" RELATED [OMIM:300209] synonym: "Simpson-Golabi-Behmel syndrome caused by mutation in OFD1" EXACT [MONDO:design_pattern] synonym: "Simpson-Golabi-Behmel syndrome, type 2" RELATED [OMIM:300209] synonym: "Simpson-Golabi-Behmel syndrome, type 2, X-linked recessive" EXACT [OMIM:300209, OMIM:genemap2] xref: DOID:0080342 {source="MONDO:equivalentTo"} xref: MESH:C564567 {source="MONDO:equivalentTo"} xref: OMIM:300209 {source="Orphanet:79022/e", source="DOID:0080342", source="MONDO:equivalentTo", source="Orphanet:79022"} xref: Orphanet:79022 {source="MONDO:equivalentObsolete", source="OMIM:300209"} xref: UMLS:C1846175 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:79022", source="OMIM:300209"} is_a: MONDO:0010731 {source="DC-OMIM:300209", source="MONDO:Redundant"} ! Simpson-Golabi-Behmel syndrome property_value: exactMatch DOID:0080342 property_value: exactMatch http://identifiers.org/mesh/C564567 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846175 property_value: exactMatch https://omim.org/entry/300209 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010266 name: intellectual disability, X-linked 58 def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the TSPAN7 gene." [MONDO:patterns/disease_series_by_gene] synonym: "intellectual developmental disorder, X-linked 58, X-linked recessive" EXACT [OMIM:300210, OMIM:genemap2] synonym: "intellectual disability, X-linked 58" EXACT [MONDO:Lexical, OMIM:300210] synonym: "intellectual disability, X-linked type 58" EXACT [MONDORULE:2, OMIM:300210] synonym: "mental retardation, X-linked 58" RELATED DEPRECATED [MONDO:Lexical, OMIM:300210] synonym: "mental retardation, X-linked type 58" EXACT DEPRECATED [MONDORULE:2, OMIM:300210] synonym: "MRX58" RELATED DEPRECATED [MONDO:Lexical, OMIM:300210] synonym: "non-syndromic X-linked intellectual disability caused by mutation in TSPAN7" EXACT [MONDO:design_pattern] synonym: "TSPAN7 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0112024 {source="MONDO:equivalentTo"} xref: MESH:C564566 {source="MONDO:equivalentTo"} xref: OMIM:300210 {source="MONDO:equivalentTo"} xref: UMLS:C1846174 {source="OMIM:300210", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019181 {source="DC-OMIM:300210", source="MONDO:Redundant", source="OMIM:300210"} ! non-syndromic X-linked intellectual disability property_value: exactMatch DOID:0112024 property_value: exactMatch http://identifiers.org/mesh/C564566 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846174 property_value: exactMatch https://omim.org/entry/300210 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010268 name: X-linked lissencephaly with abnormal genitalia def: "X-linked lissencephaly with abnormal genitalia (XLAG) is a severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. XLAG differs considerably from classical lissencephaly, as the resulting cortical thickness is only 6-7 mm in XLAG, rather than 15-20 mm seen in classical lissencephaly due to mutations of the PAFAH1B1 or DCX genes. In 2002, mutations in the X-linked aristaless-related homeobox gene (ARX ; Xp21.3) were identified in individuals with XLAG and in some of their female relatives. Mouse Arx and human ARX are highly expressed in both dorsal and ventral telencephalon, including the neocortical ventricular zone and germinal zone of the ganglionic eminence, with less intense signals in the subventricular zone, cortical plate, hippocampus, basal ganglia and ventral thalamus. Arx-deficient mice showed deficient tangential migration and abnormal differentiation of GABAergic interneurons in the ganglionic eminence and neocortex, as well as abnormal testicular differentiation. These characteristics include some of the clinical features of XLAG in humans. The ARX mutations in XLAG patients were predominantly premature termination mutations (large deletions, frameshift, nonsense mutations, splice site mutations) while the missense mutations were less common and located essentially in the homeobox domain. Patients carrying nonconservative missense mutations within the homeobox, showed less severe XLAG, while conservative substitution in the homeodomain caused Proud syndrome (ACC with abnormal genitalia). A non conservative missense mutation near the C-terminal aristaless domain caused unusually severe XLAG with microcephaly and mild cerebellar hypoplasia. The ARX mutations are also associated with a spectrum of milder phenotypes, without macroscopic malformations of the brain, such as X-linked infantile spasms, a syndrome featuring mental retardation associated with distal dystonic movements (Partington syndrome), autistic features and nonsyndromicintellectual deficit." [https://rarediseases.info.nih.gov/diseases/12491/x-linked-lissencephaly-with-abnormal-genitalia] subset: gard_rare {source="GARD:0012491"} subset: ordo_malformation_syndrome {source="Orphanet:452"} synonym: "hydranencephaly and abnormal genitalia" RELATED [OMIM:300215] synonym: "hydranencephaly with abnormal genitalia" RELATED [GARD:0012491] synonym: "lissencephaly, X-linked 2" RELATED [GARD:0012491] synonym: "lissencephaly, X-linked, 2" RELATED [MONDO:Lexical, OMIM:300215] synonym: "lissencephaly, X-linked, type 2" EXACT [MONDORULE:1, OMIM:300215] synonym: "lissencephaly, X-linked, with ambiguous genitalia" RELATED [OMIM:300215] synonym: "LISX2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300215] synonym: "X-linked lissencephaly - agenesis of the corpus callosum - genital anomalies" RELATED [GARD:0012491] synonym: "X-linked lissencephaly with abnormal genitalia" EXACT [] synonym: "X-linked lissencephaly with ambiguous genitalia" EXACT [Orphanet:452] synonym: "X-linked lissencephaly-agenesis of the corpus callosum-genital anomalies syndrome" EXACT [Orphanet:452] synonym: "X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome" EXACT [Orphanet:452] synonym: "XLAG (X-linked lissencephaly with abnormal genitalia) syndrome" EXACT [Orphanet:452] synonym: "XLAG syndrome" RELATED [GARD:0012491] synonym: "Xlisg" RELATED [OMIM:300215] xref: DOID:0112238 {source="MONDO:equivalentTo"} xref: MESH:C564563 {source="MONDO:equivalentTo"} xref: OMIM:300215 {source="Orphanet:452/e", source="MONDO:equivalentTo", source="Orphanet:452"} xref: Orphanet:452 {source="MONDO:equivalentTo", source="OMIM:300215"} xref: SCTID:717632002 {source="MONDO:equivalentTo"} is_a: MONDO:0000425 ! X-linked disease is_a: MONDO:0018496 {source="Orphanet:452"} ! ARX-related encephalopathy-brain malformation spectrum is_a: MONDO:0018838 {source="MESH:C564563/inferred", source="MONDO:0015147-obsoleted", source="MONDO:Redundant", source="OMIM:300215", source="Orphanet:452/inferred"} ! lissencephaly spectrum disorders property_value: exactMatch DOID:0112238 property_value: exactMatch http://identifiers.org/mesh/C564563 property_value: exactMatch http://identifiers.org/snomedct/717632002 property_value: exactMatch https://omim.org/entry/300215 property_value: exactMatch Orphanet:452 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12491/x-linked-lissencephaly-with-abnormal-genitalia xsd:anyURI {source="GARD:0012491"} [Term] id: MONDO:0010269 name: Coats disease def: "Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children." [Orphanet:190] subset: gard_rare {source="GARD:0006121"} subset: ordo_disease {source="Orphanet:190"} synonym: "Coats disease" EXACT [OMIM:300216] synonym: "Coats' disease" EXACT [DOID:7765] synonym: "Coats' syndrome" EXACT [DOID:7765] synonym: "congenital retinal telangiectasia" EXACT [Orphanet:190] synonym: "exudative retinopathy" EXACT [DOID:7765, ICD9CM:362.12] synonym: "Leber miliary aneurysm" EXACT [Orphanet:190] synonym: "retinal telangiectasis" RELATED [OMIM:300216] xref: DOID:7765 {source="MONDO:equivalentTo"} xref: ICD9:362.12 {source="DOID:7765"} xref: MedDRA:10015901 {source="Orphanet:190", source="Orphanet:190/e"} xref: MESH:D058456 {source="DOID:7765", source="Orphanet:190", source="MONDO:equivalentTo", source="Orphanet:190/e"} xref: OMIM:300216 {source="DOID:7765", source="Orphanet:190", source="MONDO:equivalentTo", source="Orphanet:190/e"} xref: Orphanet:190 {source="MONDO:equivalentTo", source="OMIM:300216"} xref: SCTID:360455002 {source="DOID:7765", source="MONDO:equivalentTo"} xref: UMLS:C0154832 {source="DOID:7765", source="Orphanet:190", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300216", source="Orphanet:190/e"} is_a: MONDO:0004348 {source="DOID:7765"} ! retinal telangiectasia is_a: MONDO:0020216 {source="MONDO:0020221-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! secondary dysgenetic glaucoma is_a: MONDO:0020247 {source="Orphanet:190"} ! congenital vitreoretinal dysplasia property_value: closeMatch http://identifiers.org/meddra/10015901 property_value: exactMatch DOID:7765 property_value: exactMatch http://identifiers.org/mesh/D058456 property_value: exactMatch http://identifiers.org/snomedct/360455002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154832 property_value: exactMatch https://omim.org/entry/300216 property_value: exactMatch Orphanet:190 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6121/coats-disease xsd:anyURI {source="GARD:0006121"} [Term] id: MONDO:0010270 name: syndromic X-linked intellectual disability 7 def: "Syndromic X-linked intellectual disability 7, also called MRXS7, is characterized by X-linked intellectual deficit, obesity, hypogonadism, and tapering fingers." [Orphanet:85274] subset: ordo_malformation_syndrome {source="Orphanet:85274"} synonym: "Ahmad X-linked intellectual disability syndrome" RELATED [OMIM:300218] synonym: "Ahmad X-linked mental retardation syndrome" RELATED DEPRECATED [OMIM:300218] synonym: "intellectual disability X-linked syndromic 7" RELATED [GARD:0009156] synonym: "intellectual disability, obesity, hypogonadism, and tapering fingers" RELATED [GARD:0009156] synonym: "intellectual disability, X-linked syndromic 7" EXACT [DOID:0060808] synonym: "intellectual disability, X-linked, syndromic 7" RELATED [MONDO:Lexical, OMIM:300218] synonym: "mental retardation X-linked syndromic 7" RELATED DEPRECATED [GARD:0009156] synonym: "mental retardation, obesity, hypogonadism, and tapering fingers" RELATED DEPRECATED [GARD:0009156] synonym: "mental retardation, X-linked syndromic 7" EXACT DEPRECATED [DOID:0060808] synonym: "mental retardation, X-linked, syndromic 7" RELATED DEPRECATED [MONDO:Lexical, OMIM:300218] synonym: "MRXS7" EXACT ABBREVIATION [DOID:0060808, MONDO:Lexical, OMIM:300218, Orphanet:85274] synonym: "syndromic X-linked intellectual disability type 7" EXACT [DOID:0060808, MONDORULE:1, Orphanet:85274] synonym: "X-linked intellectual disability, Ahmad type" EXACT [DOID:0060808, Orphanet:85274] xref: DOID:0060808 {source="MONDO:equivalentTo"} xref: MESH:C537449 {source="DOID:0060808", source="Orphanet:85274/e", source="MONDO:equivalentTo", source="Orphanet:85274"} xref: OMIM:300218 {source="DOID:0060808", source="Orphanet:85274/e", source="MONDO:equivalentTo", source="Orphanet:85274"} xref: Orphanet:85274 {source="DOID:0060808", source="MONDO:equivalentTo", source="OMIM:300218"} xref: SCTID:719160009 {source="MONDO:equivalentTo"} xref: UMLS:C1846170 {source="DOID:0060808", source="Orphanet:85274/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300218", source="Orphanet:85274"} xref: UMLS:C4304916 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:85274"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020119 {source="DC-OMIM:300218", source="DOID:0060808", source="OMIM:300218", source="Orphanet:85274", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch DOID:0060808 property_value: exactMatch http://identifiers.org/mesh/C537449 property_value: exactMatch http://identifiers.org/snomedct/719160009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846170 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304916 property_value: exactMatch https://omim.org/entry/300218 property_value: exactMatch Orphanet:85274 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010275 name: spondyloepimetaphyseal dysplasia, Bieganski type def: "A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive." [Orphanet:83629] subset: ordo_disease {source="Orphanet:168448", source="Orphanet:83629"} subset: ordo_disorder synonym: "H-SMD" EXACT [Orphanet:83629] synonym: "hypomyelination-spondyloepimetaphyseal dysplasia syndrome" EXACT [Orphanet:83629] synonym: "leukoencephalopathy with metaphyseal chondrodysplasia" RELATED [MONDO:Lexical, OMIM:300660] synonym: "leukoencephalopathy-metaphyseal chondrodysplasia syndrome" EXACT [Orphanet:83629] synonym: "leukoencephalopathy-SEMD syndrome" EXACT [Orphanet:83629] synonym: "LKMCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300660] synonym: "SEMD X-linked with mental deterioration" RELATED [GARD:0004891] synonym: "SEMD, X-linked, with mental deterioration" RELATED [OMIM:300232] synonym: "spondyloepimetaphyseal dysplasia X-linked with mental deterioration" RELATED [GARD:0004891] synonym: "spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, X-linked recessive" EXACT [OMIM:300232, OMIM:genemap2] synonym: "spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration" RELATED [OMIM:300232] xref: ICD10CM:G11.4 {source="Orphanet:83629/attributed", source="Orphanet:83629/ntbt", source="MONDO:directSiblingOf", source="Orphanet:83629"} xref: MESH:C536671 {source="MONDO:equivalentTo"} xref: MESH:C567065 {source="MONDO:equivalentTo"} xref: OMIM:300232 {source="MONDO:equivalentTo", source="Orphanet:168448", source="Orphanet:168448/e"} xref: Orphanet:168448 {source="MONDO:equivalentObsolete", source="OMIM:300232"} xref: Orphanet:83629 {source="OMIM:300660", source="MONDO:equivalentTo"} xref: UMLS:C1846148 {source="OMIM:300232", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0100510 {source="PMID:31633310", source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia property_value: exactMatch http://identifiers.org/mesh/C536671 property_value: exactMatch http://identifiers.org/mesh/C567065 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846148 property_value: exactMatch https://omim.org/entry/300232 property_value: exactMatch Orphanet:83629 property_value: excluded_subClassOf MONDO:0016761 {source="Orphanet:168448"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5280 xsd:anyURI [Term] id: MONDO:0010277 name: syndromic X-linked intellectual disability Shashi type def: "X-linked intellectual disability, Shashi type is characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localized to the q21.3-q27 region of the X chromosome." [Orphanet:85286] subset: ordo_malformation_syndrome {source="Orphanet:85286"} synonym: "intellectual developmental disorder, syndromic 11, Shashi type, X-linked recessive" EXACT [OMIM:300238, OMIM:genemap2] synonym: "intellectual disability X-linked Shashi type" RELATED [GARD:0004119] synonym: "intellectual disability X-linked syndromic 11" RELATED [GARD:0004119] synonym: "intellectual disability, X-linked, Shashi type" RELATED [OMIM:300238] synonym: "intellectual disability, X-linked, syndromic 11" RELATED [MONDO:Lexical, OMIM:300238] synonym: "intellectual disability, X-linked, syndromic 11, Shashi type" EXACT [DOID:0060826] synonym: "mental retardation X-linked Shashi type" RELATED DEPRECATED [GARD:0004119] synonym: "mental retardation X-linked syndromic 11" RELATED DEPRECATED [GARD:0004119] synonym: "mental retardation, X-linked, Shashi type" RELATED DEPRECATED [OMIM:300238] synonym: "mental retardation, X-linked, syndromic 11" RELATED DEPRECATED [MONDO:Lexical, OMIM:300238] synonym: "mental retardation, X-linked, syndromic 11, Shashi type" EXACT DEPRECATED [DOID:0060826] synonym: "MRXS11" EXACT ABBREVIATION [DOID:0060826, MONDO:Lexical, OMIM:300238] synonym: "Shashi X-linked intellectual disability syndrome" EXACT [DOID:0060826, OMIM:300238] synonym: "Shashi X-linked mental retardation syndrome" EXACT DEPRECATED [DOID:0060826, OMIM:300238] synonym: "SMRXS" EXACT ABBREVIATION [DOID:0060826] synonym: "syndromic X-linked intellectual disability type 11" EXACT [DOID:0060826, Orphanet:85286] synonym: "X-linked intellectual disability Shashi type" EXACT [DOID:0060826] synonym: "X-linked intellectual disability, Shashi type" RELATED [Orphanet:85286] synonym: "X-linked mental retardation Shashi type" EXACT DEPRECATED [DOID:0060826] xref: DOID:0060826 {source="MONDO:equivalentTo"} xref: MESH:C537135 {source="MONDO:equivalentTo"} xref: OMIM:300238 {source="Orphanet:85286/e", source="MONDO:equivalentTo", source="DOID:0060826", source="Orphanet:85286"} xref: Orphanet:85286 {source="MONDO:equivalentTo", source="OMIM:300238", source="DOID:0060826"} xref: SCTID:718900002 {source="MONDO:equivalentTo"} xref: UMLS:C1846145 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300238"} xref: UMLS:C4305085 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:85286"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020119 {source="DC-OMIM:300238", source="DOID:0060826", source="OMIM:300238", source="Orphanet:85286", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch DOID:0060826 property_value: exactMatch http://identifiers.org/mesh/C537135 property_value: exactMatch http://identifiers.org/snomedct/718900002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846145 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305085 property_value: exactMatch https://omim.org/entry/300238 property_value: exactMatch Orphanet:85286 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010278 name: Christianson syndrome def: "A very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures." [Orphanet:85278] subset: gard_rare {source="GARD:0010572"} subset: ordo_malformation_syndrome {source="Orphanet:85278"} synonym: "Angelman-like syndrome X-linked" RELATED [GARD:0010572] synonym: "Angelman-like syndrome, X-linked" RELATED [OMIM:300243] synonym: "Christianson syndrome" EXACT [] synonym: "intellectual developmental disorder, X-linked syndromic, Christianson type" EXACT [OMIM:300243, OMIM:genemap2] synonym: "intellectual disability microcephaly epilepsy and ataxia syndrome" RELATED [GARD:0010572] synonym: "intellectual disability X-linked syndromic Christianson type" RELATED [GARD:0010572] synonym: "intellectual disability, microcephaly, epilepsy, and ataxia syndrome" EXACT [DOID:0060825, OMIM:300243] synonym: "intellectual disability, X-linked syndromic, Christianson type" EXACT [DOID:0060825] synonym: "intellectual disability, X-linked, syndromic, Christianson type" RELATED [MONDO:Lexical, OMIM:300243] synonym: "mental retardation, microcephaly, epilepsy, and ataxia syndrome" EXACT DEPRECATED [DOID:0060825, OMIM:300243] synonym: "mental retardation, X-linked syndromic, Christianson type" EXACT DEPRECATED [DOID:0060825] synonym: "mental retardation, X-linked, syndromic, Christianson type" RELATED DEPRECATED [MONDO:Lexical, OMIM:300243] synonym: "MRXS Christianson" RELATED [GARD:0010572] synonym: "MRXSCH" EXACT ABBREVIATION [DOID:0060825, MONDO:Lexical, OMIM:300243] synonym: "X-linked Angelman-like syndrome" EXACT [DOID:0060825, Orphanet:85278] synonym: "X-linked intellectual disability - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy" RELATED [GARD:0010572] synonym: "X-linked intellectual disability, South African type" EXACT [DOID:0060825, Orphanet:85278] synonym: "X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome" EXACT [DOID:0060825, Orphanet:85278] xref: DOID:0060825 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C567484 {source="MONDO:equivalentTo"} xref: OMIM:300243 {source="Orphanet:85278", source="MONDO:equivalentTo", source="Orphanet:85278/e", source="DOID:0060825"} xref: Orphanet:85278 {source="OMIM:300243", source="MONDO:equivalentTo", source="DOID:0060825"} xref: SCTID:702354007 {source="MONDO:equivalentTo"} xref: UMLS:C2678194 {source="Orphanet:85278", source="OMIM:300243", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: exactMatch DOID:0060825 property_value: exactMatch http://identifiers.org/mesh/C567484 property_value: exactMatch http://identifiers.org/snomedct/702354007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678194 property_value: exactMatch https://omim.org/entry/300243 property_value: exactMatch Orphanet:85278 property_value: excluded_subClassOf MONDO:0015159 {source="Orphanet:85278"} property_value: excluded_subClassOf MONDO:0016612 {source="Orphanet:85278"} property_value: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:300243", source="DOID:0060825", source="OMIM:300243", source="Orphanet:85278"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10572/christianson-syndrome xsd:anyURI {source="GARD:0010572"} [Term] id: MONDO:0010279 name: terminal osseous dysplasia-pigmentary defects syndrome def: "A syndrome characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis." [Orphanet:88630] subset: ordo_malformation_syndrome {source="Orphanet:88630"} synonym: "Odpd" RELATED [OMIM:300244] synonym: "Odpf syndrome" RELATED [OMIM:300244] synonym: "osseous dysplasia, digital, with Facial pigmentary defects and multiple frenula" RELATED [OMIM:300244] synonym: "terminal osseous dysplasia" RELATED [MONDO:Lexical, OMIM:300244] synonym: "terminal osseous dysplasia and pigmentary defects" RELATED [OMIM:300244] synonym: "terminal osseous dysplasia, X-linked dominant" EXACT [OMIM:300244, OMIM:genemap2] synonym: "TOD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300244] xref: DOID:0112149 {source="MONDO:equivalentTo"} xref: MESH:C564554 {source="MONDO:equivalentTo"} xref: OMIM:300244 {source="Orphanet:88630/e", source="MONDO:equivalentTo", source="Orphanet:88630"} xref: Orphanet:88630 {source="MONDO:equivalentTo", source="OMIM:300244"} xref: UMLS:C1846129 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300244", source="Orphanet:88630"} is_a: MONDO:0019690 {source="Orphanet:88630", source="PMID:31633310"} ! filamin-related bone disorder is_a: MONDO:0019695 {source="Orphanet:88630"} ! acromelic dysplasia property_value: exactMatch DOID:0112149 property_value: exactMatch http://identifiers.org/mesh/C564554 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846129 property_value: exactMatch https://omim.org/entry/300244 property_value: exactMatch Orphanet:88630 property_value: excluded_subClassOf MONDO:0019289 {source="Orphanet:88630"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5682 xsd:anyURI [Term] id: MONDO:0010283 name: syndromic X-linked intellectual disability Lubs type def: "Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown." [Orphanet:1762] subset: ordo_malformation_syndrome {source="Orphanet:1762"} synonym: "distal duplication Xq" EXACT [Orphanet:1762] synonym: "intellectual developmental disorder, X-linked syndromic, Lubs type, X-linked recessive" EXACT [OMIM:300260, OMIM:genemap2] synonym: "intellectual disability, X-linked, Lubs type (formerly)" RELATED [GARD:0009781] synonym: "intellectual disability, X-linked, syndromic, Lubs type" EXACT [DOID:0060799] synonym: "intellectual disability, X-linked, with recurrent respiratory infections" EXACT [DOID:0060799, OMIM:300260] synonym: "Lubs X-linked intellectual disability syndrome" EXACT [DOID:0060799, MONDO:Lexical, OMIM:300260] synonym: "Lubs X-linked intellectual disability syndrome (formerly)" RELATED [GARD:0009781] synonym: "Lubs X-linked mental retardation syndrome" EXACT DEPRECATED [DOID:0060799, MONDO:Lexical, OMIM:300260] synonym: "Lubs X-linked mental retardation syndrome (formerly)" RELATED DEPRECATED [GARD:0009781] synonym: "MECP2 Duplication syndrome" RELATED [OMIM:300260] synonym: "MECP2 duplication syndrome" EXACT [DOID:0060799] synonym: "mental retardation, X-linked, Lubs type (formerly)" RELATED DEPRECATED [GARD:0009781] synonym: "mental retardation, X-linked, syndromic, Lubs type" EXACT DEPRECATED [DOID:0060799] synonym: "mental retardation, X-linked, with recurrent respiratory infections" EXACT DEPRECATED [DOID:0060799, OMIM:300260] synonym: "MRXSL" EXACT ABBREVIATION [DOID:0060799, MONDO:Lexical, OMIM:300260] synonym: "syndromic X-linked intellectual disability Lubs type" EXACT [] synonym: "telomeric duplication Xq" EXACT [Orphanet:1762] synonym: "trisomy Xq28" RELATED [Orphanet:1762] synonym: "X-linked intellectual disability-hypotonia-recurrent infections syndrome" EXACT [DOID:0060799] synonym: "XLMR syndrome, Lubs type" RELATED [GARD:0009781] synonym: "Xq28 (MECP2) duplication" EXACT [DECIPHER:45] xref: DECIPHER:45 {source="MONDO:equivalentTo"} xref: DOID:0060799 {source="MONDO:equivalentTo"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537723 {source="Orphanet:1762", source="MONDO:equivalentTo", source="DOID:0060799", source="Orphanet:1762/e"} xref: NCIT:C126747 {source="MONDO:equivalentTo"} xref: OMIM:300260 {source="Orphanet:1762", source="MONDO:equivalentTo", source="DOID:0060799"} xref: Orphanet:1762 {source="MONDO:equivalentTo"} xref: SCTID:702816000 {source="MONDO:equivalentTo"} xref: UMLS:C1846058 {source="OMIM:300260", source="Orphanet:1762", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:0060799", source="Orphanet:1762/e", source="NCIT:C126747"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:1762"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0017010 {source="Orphanet:1762"} ! partial duplication of the long arm of chromosome X is_a: MONDO:0020119 {source="DC-OMIM:300260", source="DOID:0060799", source="OMIM:300260", source="Orphanet:1762", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch DOID:0060799 property_value: exactMatch http://identifiers.org/mesh/C537723 property_value: exactMatch http://identifiers.org/snomedct/702816000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846058 property_value: exactMatch https://omim.org/entry/300260 property_value: exactMatch NCIT:C126747 property_value: exactMatch Orphanet:1762 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010284 name: Armfield syndrome def: "X-linked intellectual disability, Armfield type is characterized by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28." [Orphanet:85276] subset: ordo_malformation_syndrome {source="Orphanet:85276"} synonym: "Armfield syndrome" EXACT [Orphanet:85276] synonym: "Armfield X-linked intellectual disability syndrome" EXACT [DOID:0050764, MONDO:Lexical, OMIM:300261] synonym: "Armfield X-linked mental retardation syndrome" EXACT DEPRECATED [DOID:0050764, MONDO:Lexical, OMIM:300261] synonym: "intellectual developmental disorder, X-linked, syndromic, Armfield type, X-linked recessive" EXACT [OMIM:300261, OMIM:genemap2] synonym: "intellectual disability syndrome, X-linked, Armfield type" EXACT [DOID:0050764] synonym: "intellectual disability, X-linked, syndromic, Armfield type" RELATED [OMIM:300261] synonym: "mental retardation syndrome, X-linked, Armfield type" EXACT DEPRECATED [DOID:0050764] synonym: "mental retardation syndrome, X-linked, armfield type, X-linked recessive" EXACT [OMIM:300261, OMIM:genemap2] synonym: "mental retardation, X-linked, syndromic, Armfield type" RELATED DEPRECATED [OMIM:300261] synonym: "MRXSA" EXACT ABBREVIATION [DOID:0050764, MONDO:Lexical, OMIM:300261] synonym: "syndromic X-linked intellectual disability Armfield type" EXACT [DOID:0050764] synonym: "syndromic X-linked mental retardation Armfield type" EXACT DEPRECATED [DOID:0050764] synonym: "X-linked intellectual disability, Armfield type" EXACT [DOID:0050764] xref: DOID:0050764 {source="MONDO:equivalentTo"} xref: MESH:C564551 {source="MONDO:equivalentTo"} xref: OMIM:300261 {source="Orphanet:85276", source="DOID:0050764", source="MONDO:equivalentTo", source="Orphanet:85276/e"} xref: Orphanet:85276 {source="OMIM:300261", source="DOID:0050764", source="MONDO:equivalentTo"} xref: SCTID:719017003 {source="MONDO:equivalentTo"} xref: UMLS:C1846057 {source="OMIM:300261", source="Orphanet:85276", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: exactMatch DOID:0050764 property_value: exactMatch http://identifiers.org/mesh/C564551 property_value: exactMatch http://identifiers.org/snomedct/719017003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846057 property_value: exactMatch https://omim.org/entry/300261 property_value: exactMatch Orphanet:85276 property_value: excluded_subClassOf MONDO:0015159 {source="Orphanet:85276"} property_value: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:300261", source="DOID:0050764", source="OMIM:300261", source="Orphanet:85276"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010285 name: syndromic X-linked intellectual disability Abidi type def: "X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations." [Orphanet:85273] subset: ordo_malformation_syndrome {source="Orphanet:85273"} synonym: "ABIDI X-linked intellectual disability syndrome" RELATED [MONDO:Lexical, OMIM:300262] synonym: "ABIDI X-linked mental retardation syndrome" RELATED DEPRECATED [MONDO:Lexical, OMIM:300262] synonym: "intellectual disability X-linked Abidi type" RELATED [GARD:0009157] synonym: "intellectual disability, X-linked syndromic, Abidi type" EXACT [DOID:0060818] synonym: "intellectual disability, X-linked, syndromic, Abidi type" RELATED [OMIM:300262] synonym: "mental retardation, X-linked syndromic, Abidi type" EXACT DEPRECATED [DOID:0060818] synonym: "mental retardation, X-linked, syndromic, Abidi type" RELATED DEPRECATED [OMIM:300262] synonym: "MRXSAB" EXACT ABBREVIATION [DOID:0060818, MONDO:Lexical, OMIM:300262] synonym: "short stature, small head circumference, sloping forehead, hearing loss, cupped ears and small testes" RELATED [GARD:0009157] synonym: "syndromic X-linked intellectual disability Abidi type" EXACT [DOID:0060818] synonym: "syndromic X-linked mental retardation Abidi type" EXACT DEPRECATED [DOID:0060818] synonym: "X-linked intellectual disability, Abidi type" RELATED [Orphanet:85273] xref: DOID:0060818 {source="MONDO:equivalentTo"} xref: MESH:C535556 {source="DOID:0060818", source="Orphanet:85273/e", source="MONDO:equivalentTo", source="Orphanet:85273"} xref: OMIM:300262 {source="DOID:0060818", source="Orphanet:85273/e", source="MONDO:equivalentTo", source="Orphanet:85273"} xref: Orphanet:85273 {source="DOID:0060818", source="OMIM:300262", source="MONDO:equivalentTo"} xref: UMLS:C1846056 {source="DOID:0060818", source="Orphanet:85273/e", source="OMIM:300262", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:85273"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:85273"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020119 {source="DC-OMIM:300262", source="DOID:0060818", source="OMIM:300262", source="Orphanet:85273", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch DOID:0060818 property_value: exactMatch http://identifiers.org/mesh/C535556 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846056 property_value: exactMatch https://omim.org/entry/300262 property_value: exactMatch Orphanet:85273 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010286 name: syndromic X-linked intellectual disability Siderius type subset: ordo_malformation_syndrome {source="Orphanet:85287"} synonym: "intellectual deficit X-linked Siderius type" RELATED [GARD:0009704] synonym: "intellectual developmental disorder, X-linked, syndromic, Siderius type, X-linked recessive" EXACT [OMIM:300263, OMIM:genemap2] synonym: "intellectual disability syndrome, X-linked, Siderius type" EXACT [DOID:0060812] synonym: "intellectual disability X-linked Siderius type" RELATED [GARD:0009704] synonym: "intellectual disability, X-linked, syndromic, Siderius type" RELATED [OMIM:300263] synonym: "mental retardation syndrome, X-linked, Siderius type" EXACT DEPRECATED [DOID:0060812] synonym: "mental retardation X-linked Siderius type" RELATED DEPRECATED [GARD:0009704] synonym: "mental retardation, X-linked, syndromic, Siderius type" RELATED DEPRECATED [OMIM:300263] synonym: "MRXSSD" EXACT ABBREVIATION [DOID:0060812, MONDO:Lexical, OMIM:300263] synonym: "Siderius Hamel syndrome" RELATED [GARD:0009704] synonym: "Siderius X-linked intellectual disability syndrome" EXACT [DOID:0060812, MONDO:Lexical, OMIM:300263] synonym: "Siderius X-linked mental retardation syndrome" EXACT DEPRECATED [DOID:0060812, MONDO:Lexical, OMIM:300263] synonym: "Siderius-Hamel syndrome" EXACT [DOID:0060812, OMIM:300263] synonym: "syndromic X-linked intellectual disability Siderius type" EXACT [] synonym: "X-linked intellectual disability Hamel type" RELATED [GARD:0009704] synonym: "X-linked intellectual disability, Siderius type" RELATED [Orphanet:85287] synonym: "X-linked mental retardation Hamel type" RELATED DEPRECATED [GARD:0009704] xref: DOID:0060812 {source="MONDO:equivalentTo"} xref: MESH:C537333 {source="Orphanet:85287", source="MONDO:equivalentTo", source="Orphanet:85287/e", source="DOID:0060812"} xref: OMIM:300263 {source="Orphanet:85287", source="MONDO:equivalentTo", source="Orphanet:85287/e", source="DOID:0060812"} xref: Orphanet:85287 {source="OMIM:300263", source="MONDO:equivalentTo", source="DOID:0060812"} xref: UMLS:C1846055 {source="Orphanet:85287", source="OMIM:300263", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:85287/e", source="DOID:0060812"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:85287"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020119 {source="DC-OMIM:300263", source="DOID:0060812", source="OMIM:300263", source="Orphanet:85287", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch DOID:0060812 property_value: exactMatch http://identifiers.org/mesh/C537333 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846055 property_value: exactMatch https://omim.org/entry/300263 property_value: exactMatch Orphanet:85287 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010287 name: hereditary spastic paraplegia 16 def: "A hereditary spastic paraplegia that has material basis in variation in the chromosome region Xq11.2." [DOID:0110769, PMID:9254866] subset: ordo_disease {source="Orphanet:100997"} synonym: "hereditary spastic paraplegia type 16" EXACT [DOID:0110769, MONDORULE:2] synonym: "spastic paraplegia 16" RELATED [GARD:0009585] synonym: "spastic paraplegia 16, X-linked" RELATED [MONDO:Lexical, OMIM:300266] synonym: "spastic paraplegia 16, X-linked, complicated, X-linked recessive" EXACT [OMIM:300266, OMIM:genemap2] synonym: "SPG16" EXACT ABBREVIATION [DOID:0110769, MONDO:Lexical, OMIM:300266, Orphanet:100997] synonym: "X-linked spastic paraplegia 16" EXACT [DOID:0110769] synonym: "X-linked spastic paraplegia type 16" EXACT [DOID:0110769] xref: DOID:0110769 {source="MONDO:equivalentTo"} xref: MESH:C536643 {source="MONDO:equivalentTo", source="Orphanet:100997", source="Orphanet:100997/e"} xref: OMIM:300266 {source="DOID:0110769", source="MONDO:equivalentTo", source="Orphanet:100997", source="Orphanet:100997/e"} xref: Orphanet:100997 {source="DOID:0110769", source="MONDO:equivalentTo", source="OMIM:300266"} xref: UMLS:C1846046 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300266", source="Orphanet:100997", source="Orphanet:100997/e"} is_a: MONDO:0017916 {source="Orphanet:100997"} ! pure or complex X-linked spastic paraplegia property_value: exactMatch DOID:0110769 property_value: exactMatch http://identifiers.org/mesh/C536643 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846046 property_value: exactMatch https://omim.org/entry/300266 property_value: exactMatch Orphanet:100997 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010288 name: adrenomyodystrophy def: "Adrenomyodystrophy is an extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982." [Orphanet:977] subset: ordo_disease {source="Orphanet:977"} synonym: "adrenomyodystrophy" EXACT [OMIM:300270] xref: MESH:C538051 {source="Orphanet:977", source="MONDO:equivalentTo", source="Orphanet:977/e"} xref: OMIM:300270 {source="Orphanet:977", source="MONDO:equivalentTo", source="Orphanet:977/e"} xref: Orphanet:977 {source="MONDO:equivalentTo", source="OMIM:300270"} xref: SCTID:763311001 {source="MONDO:equivalentTo"} xref: UMLS:C1846044 {source="Orphanet:977", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:977/e", source="OMIM:300270"} is_a: EFO:0005539 {source="Orphanet:977", source="Orphanet:977/inferred"} ! adrenal gland disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015971"} ! rare property_value: exactMatch http://identifiers.org/mesh/C538051 property_value: exactMatch http://identifiers.org/snomedct/763311001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846044 property_value: exactMatch https://omim.org/entry/300270 property_value: exactMatch Orphanet:977 property_value: excluded_subClassOf MONDO:0015129 {source="Orphanet:977"} [Term] id: MONDO:0010292 name: Uruguay Faciocardiomusculoskeletal syndrome synonym: "faciocardiomusculoskeletal syndrome, Uruguay type" RELATED [OMIM:300280] synonym: "Fcms" RELATED [OMIM:300280] synonym: "FCMSU" RELATED ABBREVIATION [OMIM:300280] synonym: "URUGUAY FACIOCARDIOMUSCULOSKELETAL syndrome" RELATED [OMIM:300280] synonym: "Uruguay Faciocardiomusculoskeletal syndrome" EXACT [OMIM:300280] synonym: "uruguay faciocardiomusculoskeletal syndrome, X-linked recessive" EXACT [OMIM:300280, OMIM:genemap2] xref: DOID:0112148 {source="MONDO:equivalentTo"} xref: MESH:C564544 {source="MONDO:equivalentTo"} xref: OMIM:300280 {source="MONDO:equivalentTo"} xref: UMLS:C1846010 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300280"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch DOID:0112148 property_value: exactMatch http://identifiers.org/mesh/C564544 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846010 property_value: exactMatch https://omim.org/entry/300280 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010293 name: ectodermal dysplasia and immune deficiency subset: ordo_clinical_subtype {source="Orphanet:98813"} synonym: "anhidrotic ectodermal dysplasia with immune deficiency" EXACT [NCIT:C118844] synonym: "anhidrotic ectodermal dysplasia with immunodeficiency" EXACT [Orphanet:98813] synonym: "ectodermal dysplasia, anhidrotic, with immune deficiency" RELATED [OMIM:300291] synonym: "ectodermal dysplasia, hypohidrotic, with immune deficiency" RELATED [OMIM:300291] synonym: "EDA-ID" EXACT [OMIM:300291, Orphanet:98813] synonym: "HED-ID" EXACT [OMIM:300291, Orphanet:98813] synonym: "hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia" RELATED [OMIM:300291] synonym: "hypohidrotic ectodermal dysplasia with immune deficiency" EXACT [NCIT:C118844] synonym: "hypohidrotic ectodermal dysplasia with immunodeficiency" EXACT [Orphanet:98813] synonym: "Xhm-Ed" RELATED [OMIM:300291] xref: DOID:0081077 {source="MONDO:equivalentTo"} xref: MESH:C536181 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: NCIT:C118844 {source="MONDO:equivalentTo"} xref: OMIMPS:300291 {source="MONDO:equivalentTo"} xref: Orphanet:98813 {source="MONDO:equivalentTo", source="OMIM:300291"} xref: SCTID:703525006 {source="MONDO:equivalentTo"} xref: UMLS:C1846006 {source="MONDO:equivalentTo", source="Orphanet:98813", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C118844", source="OMIM:300291"} is_a: MONDO:0015823 ! primary immunodeficiency due to a defect in adaptive immunity is_a: MONDO:0016535 {source="Orphanet:98813"} ! hypohidrotic ectodermal dysplasia property_value: exactMatch DOID:0081077 property_value: exactMatch http://identifiers.org/mesh/C536181 property_value: exactMatch http://identifiers.org/snomedct/703525006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846006 property_value: exactMatch https://omim.org/phenotypicSeries/PS300291 property_value: exactMatch NCIT:C118844 property_value: exactMatch Orphanet:98813 [Term] id: MONDO:0010294 name: X-linked severe congenital neutropenia def: "This syndrome is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein." [https://rarediseases.info.nih.gov/diseases/3981/severe-congenital-neutropenia-x-linked] subset: gard_rare {source="GARD:0003981"} subset: ordo_disease {source="Orphanet:86788"} synonym: "neutropenia, severe congenital, X-linked" RELATED [MONDO:Lexical, OMIM:300299] synonym: "neutropenia, severe congenital, X-linked, X-linked recessive" EXACT [OMIM:300299, OMIM:genemap2] synonym: "SCNX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300299] synonym: "severe congenital neutropenia X-linked" RELATED [GARD:0003981] synonym: "severe congenital neutropenia, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "X-linked severe congenital neutropenia" EXACT [] synonym: "Xln" RELATED [OMIM:300299] xref: DOID:0112128 {source="MONDO:equivalentTo"} xref: MESH:C564539 {source="MONDO:equivalentTo"} xref: OMIM:300299 {source="Orphanet:86788", source="MONDO:equivalentTo", source="Orphanet:86788/e"} xref: Orphanet:86788 {source="MONDO:equivalentTo", source="OMIM:300299"} xref: SCTID:718882006 {source="MONDO:equivalentTo"} xref: UMLS:C1845987 {source="Orphanet:86788", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300299"} is_a: MONDO:0000425 {source="MESH:C564539", source="MONDO:Redundant"} ! X-linked disease is_a: MONDO:0018542 {source="DC-OMIM:300299", source="MONDO:Redundant", source="OMIM:300299", source="Orphanet:86788"} ! severe congenital neutropenia property_value: exactMatch DOID:0112128 property_value: exactMatch http://identifiers.org/mesh/C564539 property_value: exactMatch http://identifiers.org/snomedct/718882006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845987 property_value: exactMatch https://omim.org/entry/300299 property_value: exactMatch Orphanet:86788 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3981/severe-congenital-neutropenia-x-linked xsd:anyURI {source="GARD:0003981"} [Term] id: MONDO:0010295 name: anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome def: "This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia." [Orphanet:69088] subset: ordo_disease {source="Orphanet:69088"} synonym: "ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema" RELATED [MONDO:Lexical, OMIM:300301] synonym: "ol-EDA-ID" EXACT [Orphanet:69088] synonym: "OLEDAID" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300301] xref: MESH:C564538 {source="MONDO:equivalentTo"} xref: OMIM:300301 {source="MONDO:equivalentObsolete", source="Orphanet:69088", source="Orphanet:69088/e"} xref: Orphanet:69088 {source="MONDO:equivalentTo", source="OMIM:300301"} xref: SCTID:720986005 {source="MONDO:equivalentTo"} is_a: MONDO:0015823 ! primary immunodeficiency due to a defect in adaptive immunity is_a: MONDO:0017198 {source="Orphanet:69088", source="PMID:31633310"} ! osteopetrosis is_a: MONDO:0019287 {source="MESH:C564538", source="Orphanet:69088"} ! ectodermal dysplasia syndrome is_a: MONDO:0019313 ! lymphatic malformation is_a: MONDO:0019520 {source="MONDO:Redundant", source="Orphanet:69088"} ! syndromic lymphedema is_a: MONDO:0100162 {source="https://orcid.org/0000-0002-7437-8060"} ! IKBKG-related immunodeficiency with or without ectodermal dysplasia property_value: exactMatch http://identifiers.org/mesh/C564538 property_value: exactMatch http://identifiers.org/snomedct/720986005 property_value: exactMatch Orphanet:69088 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5520 xsd:anyURI [Term] id: MONDO:0010298 name: Lesch-Nyhan syndrome def: "Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." [Orphanet:510] subset: ordo_disease {source="Orphanet:510"} synonym: "complete hypoxanthine-guanine phosphoribosyltransferase deficiency" EXACT [DOID:1919] synonym: "deficiency of IMP pyrophosphorylase" EXACT [DOID:1919] synonym: "HG-PRT deficiency" EXACT [DOID:1919] synonym: "HPRT complete deficiency" EXACT [Orphanet:510] synonym: "HPRT deficiency" RELATED [OMIM:300322] synonym: "HPRT deficiency grade IV" EXACT [Orphanet:510] synonym: "HPRT deficiency, complete" RELATED [OMIM:300322] synonym: "HPRT deficiency, neurologic variant" RELATED [OMIM:300322] synonym: "Hprt1 deficiency" RELATED [OMIM:300322] synonym: "hypoxanthine guanine phospho-ribosyltransferase 1 deficiency" RELATED [GARD:0007226] synonym: "hypoxanthine guanine phosphoribosyltransferase 1 deficiency" RELATED [OMIM:300322] synonym: "hypoxanthine guanine phosphoribosyltransferase complete deficiency" EXACT [Orphanet:510] synonym: "hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV" EXACT [Orphanet:510] synonym: "hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome])" RELATED [DOID:1919] synonym: "Lesch - Nyhan syndrome" EXACT [DOID:1919] synonym: "Lesch Nyhan disease" RELATED [GARD:0007226] synonym: "Lesch Nyhan syndrome" RELATED [GARD:0007226] synonym: "Lesch-Nyhan syndrome" EXACT [MONDO:Lexical, OMIM:300322] synonym: "Lesch-Nyhan syndrome, neurologic variant" RELATED [OMIM:300322] synonym: "Lesch-Nyhan syndrome, X-linked recessive" EXACT [OMIM:300322, OMIM:genemap2] synonym: "LNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300322] synonym: "X-linked hyperuricemia" EXACT [DOID:1919] synonym: "X-linked hyperuricemia (disorder) [ambiguous]" EXACT [DOID:1919] xref: DOID:1919 {source="MONDO:equivalentTo"} xref: ICD10CM:E79.1 {source="Orphanet:510", source="DOID:1919", source="MONDO:equivalentTo", source="Orphanet:510/e", source="Orphanet:510/specific"} xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10057589 {source="Orphanet:510", source="Orphanet:510/e"} xref: MESH:D007926 {source="Orphanet:510", source="DOID:1919", source="MONDO:equivalentTo", source="Orphanet:510/e"} xref: NCIT:C61255 {source="DOID:1919", source="MONDO:equivalentTo"} xref: OMIM:300322 {source="Orphanet:510", source="DOID:1919", source="MONDO:equivalentTo", source="Orphanet:510/e"} xref: Orphanet:510 {source="MONDO:equivalentTo", source="OMIM:300322"} xref: SCTID:10406007 {source="DOID:1919", source="MONDO:equivalentTo"} xref: UMLS:C0023374 {source="Orphanet:510", source="DOID:1919", source="MONDO:equivalentTo", source="OMIM:300322", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:510/e", source="NCIT:C61255"} xref: UMLS:CN205196 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C61255"} ! syndromic disease is_a: MONDO:0016088 {source="Orphanet:510"} ! hypoxanthine-guanine phosphoribosyltransferase deficiency property_value: closeMatch http://identifiers.org/meddra/10057589 property_value: exactMatch DOID:1919 property_value: exactMatch http://identifiers.org/mesh/D007926 property_value: exactMatch http://identifiers.org/snomedct/10406007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023374 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205196 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E79.1 property_value: exactMatch https://omim.org/entry/300322 property_value: exactMatch NCIT:C61255 property_value: exactMatch Orphanet:510 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010299 name: hypoxanthine guanine phosphoribosyltransferase partial deficiency def: "Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." [Orphanet:79233] subset: ordo_disease {source="Orphanet:79233"} synonym: "gout, HPRT-related" RELATED [OMIM:300323] synonym: "HPRT deficiency, grade I" EXACT [Orphanet:79233] synonym: "HPRT deficiency, partial" RELATED [OMIM:300323] synonym: "HPRT partial deficiency" EXACT [Orphanet:79233] synonym: "HPRT-related gout" EXACT [Orphanet:79233] synonym: "HPRT-related hyperuricemia" EXACT [Orphanet:79233] synonym: "Hprt1 deficiency, partial" RELATED [OMIM:300323] synonym: "HPRT1 partial deficiency" EXACT [Orphanet:79233] synonym: "hyperuricemia, HRPT-related, X-linked recessive" EXACT [OMIM:300323, OMIM:genemap2] synonym: "hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial" RELATED [OMIM:300323] synonym: "hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency" EXACT [Orphanet:79233] synonym: "hypoxanthine guanine phosphoribosyltransferase deficiency, grade I" EXACT [Orphanet:79233] synonym: "KELLEY-Seegmiller syndrome" RELATED [OMIM:300323] synonym: "Kelley-Seegmiller syndrome" EXACT [Orphanet:79233] xref: DOID:0112127 {source="MONDO:equivalentTo"} xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562583 {source="MONDO:equivalentTo"} xref: OMIM:300323 {source="Orphanet:79233/e", source="MONDO:equivalentTo", source="Orphanet:79233"} xref: Orphanet:79233 {source="MONDO:equivalentTo", source="OMIM:300323"} xref: SCTID:238007004 {source="MONDO:equivalentTo"} xref: UMLS:C0268117 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300323", source="Orphanet:79233"} is_a: MONDO:0016088 {source="Orphanet:79233"} ! hypoxanthine-guanine phosphoribosyltransferase deficiency property_value: exactMatch DOID:0112127 property_value: exactMatch http://identifiers.org/mesh/C562583 property_value: exactMatch http://identifiers.org/snomedct/238007004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268117 property_value: exactMatch https://omim.org/entry/300323 property_value: exactMatch Orphanet:79233 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010302 name: Ito hypomelanosis def: "Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines." [Orphanet:435] subset: ordo_disease {source="Orphanet:435"} synonym: "hi syndrome" EXACT [Orphanet:435] synonym: "HMI" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300337] synonym: "hypomelanosis of Ito" EXACT [MONDO:Lexical, OMIM:300337, Orphanet:435] synonym: "Incontinentia pigmenti achromians" RELATED [OMIM:300337] synonym: "Incontinentia pigmenti type 1" EXACT [Orphanet:435] synonym: "Incontinentia pigmenti type 1 (formerly)" RELATED [GARD:0002992] synonym: "Incontinentia pigmenti, type I" RELATED [OMIM:300337] synonym: "Incontinentia pigmenti, type I, formerly" RELATED [OMIM:300337] synonym: "IPA" RELATED ABBREVIATION [GARD:0002992] synonym: "Ito" RELATED [GARD:0002992] synonym: "Ito hypomelanosis" EXACT [OMIM:300337] synonym: "pigmentary mosaicism, Ito type" EXACT [Orphanet:435] xref: DOID:3156 {source="MONDO:equivalentTo"} xref: OMIM:300337 {source="Orphanet:435", source="MONDO:equivalentTo", source="Orphanet:435/e"} xref: Orphanet:435 {source="MONDO:equivalentObsolete", source="OMIM:300337"} xref: UMLS:C0022283 {source="MONDO:relatedTo", source="Orphanet:435", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0003966 ! eye disease is_a: MONDO:0019287 {source="Orphanet:435"} ! ectodermal dysplasia syndrome is_a: MONDO:0019290 {source="OMIM:300337", source="Orphanet:435"} ! hypopigmentation of the skin property_value: exactMatch DOID:3156 property_value: exactMatch https://omim.org/entry/300337 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3598 xsd:anyURI [Term] id: MONDO:0010303 name: obsolete colobomatous microphthalmia comment: Duplicate. property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2533 xsd:anyURI is_obsolete: true replaced_by: MONDO:0000170 [Term] id: MONDO:0010305 name: creatine transporter deficiency def: "X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures." [Orphanet:52503] subset: ordo_disease {source="Orphanet:52503"} synonym: "CCDS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300352] synonym: "cerebral creatine deficiency syndrome 1" EXACT [DOID:0050800, MONDO:Lexical, OMIM:300352] synonym: "cerebral creatine deficiency syndrome 1, X-linked recessive" EXACT [OMIM:300352, OMIM:genemap2] synonym: "cerebral creatine deficiency syndrome type 1" EXACT [MONDORULE:1, OMIM:300352] synonym: "creatine deficiency syndrome, X-linked" RELATED [OMIM:300352] synonym: "creatine deficiency, X-linked" RELATED [GARD:0001608] synonym: "creatine transporter defect" RELATED [OMIM:300352] synonym: "creatine transporter deficiency" EXACT [Orphanet:52503] synonym: "intellectual disability, X-linked with seizures, short stature and midface hypoplasia" RELATED [GARD:0001608] synonym: "intellectual disability, X-linked, with creatine Transport deficiency" RELATED [OMIM:300352] synonym: "intellectual disability, X-linked, with creatine transport deficiency" RELATED [GARD:0001608] synonym: "intellectual disability, X-linked, with seizures, short stature, and midface hypoplasia" RELATED [OMIM:300352] synonym: "mental retardation, X-linked with seizures, short stature and midface hypoplasia" RELATED DEPRECATED [GARD:0001608] synonym: "mental retardation, X-linked, with creatine Transport deficiency" RELATED DEPRECATED [OMIM:300352] synonym: "mental retardation, X-linked, with creatine transport deficiency" RELATED DEPRECATED [GARD:0001608] synonym: "mental retardation, X-linked, with seizures, short stature, and midface hypoplasia" RELATED DEPRECATED [OMIM:300352] synonym: "SLC6A8 deficiency" EXACT [DOID:0050800, Orphanet:52503] synonym: "X-linked creatine deficiency" RELATED [GARD:0001608] synonym: "X-linked creatine deficiency syndrome" RELATED [GARD:0001608] synonym: "X-linked creatine transporter deficiency" RELATED [Orphanet:52503] xref: DOID:0050800 {source="MONDO:equivalentTo"} xref: ICD9:758.81 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535598 {source="MONDO:equivalentTo"} xref: NCIT:C125665 {source="MONDO:equivalentTo"} xref: OMIM:300352 {source="MONDO:equivalentTo", source="Orphanet:52503", source="DOID:0050800", source="Orphanet:52503/e"} xref: Orphanet:52503 {source="OMIM:300352", source="MONDO:equivalentTo"} xref: SCTID:698290008 {source="MONDO:equivalentTo"} is_a: MONDO:0000456 {source="DOID:0050800", source="OMIM:300352", source="Orphanet:52503"} ! cerebral creatine deficiency syndrome is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:52503"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015327 ! developmental anomaly of metabolic origin property_value: exactMatch DOID:0050800 property_value: exactMatch http://identifiers.org/mesh/C535598 property_value: exactMatch http://identifiers.org/snomedct/698290008 property_value: exactMatch https://omim.org/entry/300352 property_value: exactMatch NCIT:C125665 property_value: exactMatch Orphanet:52503 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010306 name: X-linked intellectual disability, Cabezas type def: "X-linked intellectual disability, Cabezas type is characterized by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localized to the q24-q25 region of the X chromosome." [Orphanet:85293] comment: OMIM obsoleted 300360 and moved this to 300354 so I merged these - smb. {source="OMIM:300354"} subset: ordo_malformation_syndrome {source="Orphanet:85293"} synonym: "Cabezas syndrome" EXACT [Orphanet:85293] synonym: "Cabezas syndrome; syndromic X-linked intellectual disability 15" EXACT [DOID:0060822] synonym: "Cabezas syndrome; syndromic X-linked mental retardation 15" EXACT DEPRECATED [DOID:0060822] synonym: "Cabezas type of X-linked syndromic intellectual disability" RELATED [GARD:0013244] synonym: "Cul4B-related X-linked intellectual disability" RELATED [GARD:0013244] synonym: "intellectual disability, X-linked, syndromic 15" RELATED [GARD:0013244, OMIM:300354] synonym: "intellectual disability, X-linked, syndromic 15 (Cabezas type)" EXACT [DOID:0060822] synonym: "intellectual disability, X-linked, syndromic, Cabezas type" RELATED [MONDO:Lexical, OMIM:300354] synonym: "intellectual disability, X-linked, with short stature" EXACT [OMIM:300354] synonym: "intellectual disability, X-linked, with short stature, hypogonadism, and abnormal Gait" RELATED [OMIM:300354] synonym: "mental retardation, X-linked, syndromic 15" RELATED DEPRECATED [OMIM:300354] synonym: "mental retardation, X-linked, syndromic 15 (Cabezas type)" EXACT DEPRECATED [DOID:0060822] synonym: "mental retardation, X-linked, syndromic 15 (Cabezas type), X-linked recessive" EXACT [OMIM:300354, OMIM:genemap2] synonym: "mental retardation, X-linked, syndromic, Cabezas type" RELATED DEPRECATED [MONDO:Lexical, OMIM:300354] synonym: "mental retardation, X-linked, with short stature" EXACT DEPRECATED [OMIM:300354] synonym: "mental retardation, X-linked, with short stature, hypogonadism, and abnormal Gait" RELATED DEPRECATED [OMIM:300354] synonym: "MRSS" EXACT ABBREVIATION [DOID:0060822] synonym: "MRXS15" EXACT ABBREVIATION [DOID:0060822] synonym: "MRXSC" EXACT ABBREVIATION [DOID:0060822, MONDO:Lexical, OMIM:300354] synonym: "syndromic X-linked intellectual disability Cabezas type" EXACT [MONDO:0000826] synonym: "X-linked intellectual disability with short stature" EXACT [DOID:0060822] synonym: "X-linked intellectual disability with short stature, hypogonadism, and abnormal gait" EXACT [DOID:0060822] synonym: "X-linked intellectual disability, Cabezas type" EXACT [] synonym: "X-linked mental retardation with short stature" EXACT DEPRECATED [DOID:0060822] synonym: "X-linked mental retardation with short stature, hypogonadism, and abnormal gait" EXACT DEPRECATED [DOID:0060822] xref: DOID:0060822 {source="MONDO:equivalentTo"} xref: OMIM:300354 {source="Orphanet:85293/e", source="MONDO:equivalentTo", source="DOID:0060822", source="Orphanet:85293"} xref: Orphanet:85293 {source="MONDO:equivalentTo", source="OMIM:300354", source="DOID:0060822"} xref: SCTID:719811001 {source="MONDO:equivalentTo"} xref: UMLS:C1845845 {source="MONDO:equivalentTo"} xref: UMLS:C1845861 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300354", source="Orphanet:85293"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:85293"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020119 {source="DC-OMIM:300354", source="DOID:0060822", source="OMIM:300354", source="Orphanet:85293", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch DOID:0060822 property_value: exactMatch http://identifiers.org/snomedct/719811001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845845 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845861 property_value: exactMatch https://omim.org/entry/300354 property_value: exactMatch Orphanet:85293 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010308 name: thrombocytopenia, X-linked, with or without dyserythropoietic anemia def: "An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present." [NCIT:C136653] synonym: "thrombocytopenia, X-linked, with or without dyserythropoietic anemia" EXACT [MONDO:Lexical, OMIM:300367] synonym: "thrombocytopenia, X-linked, with or without dyserythropoietic anemia, X-linked recessive" EXACT [OMIM:300367, OMIM:genemap2] synonym: "X-linked thrombocytopenia, with or without dyserythropoietic Anaemia" EXACT OMO:0003005 [] synonym: "X-linked thrombocytopenia, with or without dyserythropoietic Anemia" EXACT [NCIT:C136653] synonym: "XLTDA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300367] xref: NCIT:C136653 {source="MONDO:equivalentTo"} xref: OMIM:300367 {source="MONDO:equivalentTo"} xref: UMLS:C3550789 {source="MONDO:equivalentTo", source="OMIM:300367"} is_a: MONDO:0100241 {source="DC-OMIM:300367", source="OMIM:300367"} ! inherited thrombocytopenia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3550789 property_value: exactMatch https://omim.org/entry/300367 property_value: exactMatch NCIT:C136653 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010310 name: osteopathia striata with cranial sclerosis def: "Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss." [Orphanet:2780] subset: ordo_malformation_syndrome {source="Orphanet:2780"} synonym: "hyperostosis generalisata with striations" EXACT [DOID:0060886, OMIM:300373, Orphanet:2780] synonym: "OSCS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300373] synonym: "osteopathia striata - cranial sclerosis" RELATED [GARD:0004148] synonym: "osteopathia striata cranial sclerosis" RELATED [GARD:0004148] synonym: "osteopathia striata with cranial sclerosis" EXACT [MONDO:Lexical, OMIM:300373] synonym: "Osteopathia striata with cranial sclerosis, X-linked dominant" EXACT [OMIM:300373, OMIM:genemap2] synonym: "osteopathia striata-cranial sclerosis syndrome" RELATED [Orphanet:2780] synonym: "Robinow-Unger syndrome" EXACT [DOID:0060886, Orphanet:2780] xref: DOID:0060886 {source="MONDO:equivalentTo"} xref: EFO:0005834 {source="MONDO:equivalentTo"} xref: ICD9:733.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536053 {source="Orphanet:2780/e", source="DOID:0060886", source="MONDO:equivalentTo", source="Orphanet:2780"} xref: OMIM:300373 {source="Orphanet:2780/e", source="DOID:0060886", source="MONDO:equivalentTo", source="Orphanet:2780"} xref: Orphanet:2780 {source="OMIM:300373", source="DOID:0060886", source="MONDO:equivalentTo"} xref: SCTID:254129003 {source="MONDO:equivalentTo"} xref: UMLS:C0432268 {source="OMIM:300373", source="Orphanet:2780/e", source="DOID:0060886", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2780"} is_a: MONDO:0017198 {source="Orphanet:2780"} ! osteopetrosis is_a: MONDO:0800084 {source="PMID:31633310"} ! primary bone dysplasia with increased bone density property_value: exactMatch DOID:0060886 property_value: exactMatch http://identifiers.org/mesh/C536053 property_value: exactMatch http://identifiers.org/snomedct/254129003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432268 property_value: exactMatch https://omim.org/entry/300373 property_value: exactMatch Orphanet:2780 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0010311 name: Becker muscular dystrophy def: "Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle." [Orphanet:98895] subset: gard_rare {source="GARD:0005900"} subset: ordo_disease {source="Orphanet:98895"} synonym: "Becker dystrophinopathy" EXACT [Orphanet:98895] synonym: "Becker muscular dystrophy" EXACT [OMIM:300376] synonym: "Becker muscular dystrophy, X-linked recessive" EXACT [OMIM:300376, OMIM:genemap2] synonym: "Becker's muscular dystrophy" RELATED [GARD:0005900] synonym: "benign congenital myopathy" EXACT [DOID:9883] synonym: "benign pseudohypertrophic muscular dystrophy" EXACT [DOID:9883] synonym: "BMD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300376, Orphanet:98895] synonym: "muscular dystrophy pseudohypertrophic progressive, Becker type" RELATED [GARD:0005900] synonym: "muscular dystrophy, Becker type" RELATED [GARD:0005900, MONDO:Lexical, OMIM:300376] synonym: "muscular dystrophy, pseudohypertrophic progressive, Becker type" RELATED [OMIM:300376] xref: DOID:9883 {source="MONDO:equivalentTo"} xref: MedDRA:10059117 {source="Orphanet:98895", source="Orphanet:98895/e"} xref: MESH:C570377 {source="https://github.com/monarch-initiative/mondo/issues/1601", source="MONDO:equivalentTo"} xref: NCIT:C84587 {source="MONDO:equivalentTo"} xref: OMIM:300376 {source="Orphanet:98895", source="MONDO:equivalentTo", source="Orphanet:98895/e", source="DOID:9883"} xref: Orphanet:98895 {source="MONDO:equivalentTo", source="OMIM:300376"} xref: SCTID:387732009 {source="MONDO:equivalentTo"} xref: UMLS:C0699741 {source="MONDO:equivalentTo", source="DOID:9883"} xref: UMLS:C3490459 {source="MONDO:equivalentTo"} is_a: MONDO:0010542 ! dilated cardiomyopathy 3B is_a: MONDO:0016899 {source="Orphanet:98895"} ! Duchenne and Becker muscular dystrophy property_value: closeMatch http://identifiers.org/meddra/10059117 property_value: exactMatch DOID:9883 property_value: exactMatch http://identifiers.org/mesh/C570377 property_value: exactMatch http://identifiers.org/snomedct/387732009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0699741 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3490459 property_value: exactMatch https://omim.org/entry/300376 property_value: exactMatch NCIT:C84587 property_value: exactMatch Orphanet:98895 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5658 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5900/becker-muscular-dystrophy xsd:anyURI {source="GARD:0005900"} [Term] id: MONDO:0010317 name: intellectual disability, X-linked, with or without seizures, arx-related synonym: "ARX-related intellectual disability" RELATED [GARD:0005614] synonym: "intellectual developmental disorder, X-linked 29, X-linked recessive" EXACT [OMIM:300419, OMIM:genemap2] synonym: "intellectual disability, X-linked 29" RELATED [OMIM:300419] synonym: "intellectual disability, X-linked 32" RELATED [OMIM:300419] synonym: "intellectual disability, X-linked 33" RELATED [OMIM:300419] synonym: "intellectual disability, X-linked 38" RELATED [OMIM:300419] synonym: "intellectual disability, X-linked 43" RELATED [OMIM:300419] synonym: "intellectual disability, X-linked 52" RELATED [MONDO:Lexical, OMIM:300504] synonym: "intellectual disability, X-linked 54" RELATED [OMIM:300419] synonym: "intellectual disability, X-linked 76" RELATED [OMIM:300419] synonym: "intellectual disability, X-linked 87" RELATED [OMIM:300419] synonym: "intellectual disability, X-linked, with or without seizures, ARX-related" RELATED [MONDO:Lexical, OMIM:300419] synonym: "intellectual disability, X-linked, with or without seizures, arx-RELATED" RELATED [OMIM:300419] synonym: "mental retardation, X-linked 29" RELATED DEPRECATED [OMIM:300419] synonym: "mental retardation, X-linked 32" RELATED DEPRECATED [OMIM:300419] synonym: "mental retardation, X-linked 33" RELATED DEPRECATED [OMIM:300419] synonym: "mental retardation, X-linked 38" RELATED DEPRECATED [OMIM:300419] synonym: "mental retardation, X-linked 43" RELATED DEPRECATED [OMIM:300419] synonym: "mental retardation, X-linked 52" RELATED DEPRECATED [MONDO:Lexical, OMIM:300504] synonym: "mental retardation, X-linked 54" RELATED DEPRECATED [OMIM:300419] synonym: "mental retardation, X-linked 76" RELATED DEPRECATED [OMIM:300419] synonym: "mental retardation, X-linked 87" RELATED DEPRECATED [OMIM:300419] synonym: "mental retardation, X-linked, with or without seizures, arx-RELATED" RELATED DEPRECATED [OMIM:300419] synonym: "mental retardation, X-linked, with or without seizures, arx-related" RELATED DEPRECATED [MONDO:Lexical, OMIM:300419] synonym: "MRX52" RELATED DEPRECATED [MONDO:Lexical, OMIM:300504] synonym: "MRXARX" RELATED DEPRECATED [MONDO:Lexical, OMIM:300419] xref: DOID:0112021 {source="MONDO:equivalentTo"} xref: MESH:C563150 {source="MONDO:equivalentTo"} xref: MESH:C564502 {source="MONDO:equivalentObsolete"} xref: OMIM:300419 {source="MONDO:equivalentTo"} xref: UMLS:C0796244 {source="OMIM:300419", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C1845298 {source="MONDO:equivalentObsolete", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300504"} is_a: MONDO:0019181 {source="DC-OMIM:300419", source="DC-OMIM:300504", source="OMIM:300419", source="OMIM:300504"} ! non-syndromic X-linked intellectual disability property_value: exactMatch DOID:0112021 property_value: exactMatch http://identifiers.org/mesh/C563150 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796244 property_value: exactMatch https://omim.org/entry/300419 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010318 name: FG syndrome 4 def: "Any FG syndrome in which the cause of the disease is a mutation in the CASK gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0009925"} synonym: "CASK FG syndrome" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "cask FG syndrome" EXACT [MONDO:design_pattern] synonym: "FG syndrome 4" EXACT [GARD:0009925, MONDO:Lexical, OMIM:300422] synonym: "FG syndrome caused by mutation in CASK" EXACT [] synonym: "FG syndrome caused by mutation in cask" EXACT [MONDO:design_pattern] synonym: "FG syndrome type 4" EXACT [MONDORULE:1, OMIM:300422] synonym: "FGS4" RELATED ABBREVIATION [GARD:0009925, MONDO:Lexical, OMIM:300422] synonym: "intellectual disability, X-linked, with or without Nystagmus" RELATED [OMIM:300422] synonym: "mental retardation, with or without nystagmus" EXACT [OMIM:300422, OMIM:genemap2] synonym: "mental retardation, X-linked, with or without Nystagmus" RELATED DEPRECATED [OMIM:300422] synonym: "X-linked intellectual disability with or without nystagmus" RELATED [GARD:0009925] xref: OMIM:300422 {source="GARD:0009925", source="MONDO:equivalentTo"} xref: UMLS:CN033933 {source="MONDO:equivalentTo"} is_a: EFO:0009297 {source="DC-OMIM:300422", source="MONDO:Redundant"} ! fg syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN033933 property_value: exactMatch https://omim.org/entry/300422 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9925/x-linked-intellectual-disability-with-or-without-nystagmus xsd:anyURI {source="GARD:0009925"} [Term] id: MONDO:0010319 name: syndromic X-linked intellectual disability Hedera type def: "X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported." [Orphanet:93952] subset: ordo_disease {source="Orphanet:93952"} synonym: "intellectual developmental disorder, X-linked, syndromic, Hedera type, X-linked recessive" EXACT [OMIM:300423, OMIM:genemap2] synonym: "intellectual disability, X-linked, syndromic, Hedera type" EXACT [DOID:0060806, MONDO:Lexical, OMIM:300423] synonym: "intellectual disability, X-linked, with epilepsy" RELATED [OMIM:300423] synonym: "mental retardation, X-linked, syndromic, Hedera type" EXACT DEPRECATED [DOID:0060806, MONDO:Lexical, OMIM:300423] synonym: "mental retardation, X-linked, with epilepsy" RELATED DEPRECATED [OMIM:300423] synonym: "MRXE" EXACT ABBREVIATION [DOID:0060806] synonym: "MRXSH" EXACT ABBREVIATION [DOID:0060806, MONDO:Lexical, OMIM:300423, Orphanet:93952] synonym: "X-linked intellectual disability with epilepsy" EXACT [DOID:0060806] synonym: "X-linked intellectual disability, Hedera type" RELATED [Orphanet:93952] synonym: "X-linked mental retardation with epilepsy" EXACT DEPRECATED [DOID:0060806] xref: DOID:0060806 {source="MONDO:equivalentTo"} xref: MESH:C564516 {source="MONDO:equivalentTo"} xref: OMIM:300423 {source="MONDO:equivalentTo", source="Orphanet:93952", source="DOID:0060806", source="Orphanet:93952/e"} xref: Orphanet:93952 {source="MONDO:equivalentTo", source="OMIM:300423", source="DOID:0060806"} xref: UMLS:C1845543 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300423"} is_a: MONDO:0016160 {source="Orphanet:93952"} ! X-linked intellectual disability-epilepsy syndrome is_a: MONDO:0100146 {source="https://clinicalgenome.org/affiliation/40006/"} ! ATP6AP2-related disorder property_value: exactMatch DOID:0060806 property_value: exactMatch http://identifiers.org/mesh/C564516 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845543 property_value: exactMatch https://omim.org/entry/300423 property_value: exactMatch Orphanet:93952 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010323 name: Atkin-Flaitz syndrome def: "Atkin-Flaitz syndrome is characterized by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked." [Orphanet:1193] subset: ordo_malformation_syndrome {source="Orphanet:1193"} synonym: "Atkin syndrome" RELATED [OMIM:300431] synonym: "Atkin-Flaitz syndrome" EXACT [OMIM:300431] synonym: "X-linked intellectual disability, Atkin type" EXACT [Orphanet:1193] xref: OMIM:300431 {source="Orphanet:1193/e", source="MONDO:equivalentTo", source="Orphanet:1193"} xref: Orphanet:1193 {source="MONDO:equivalentTo", source="OMIM:300431"} xref: SCTID:718577005 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: exactMatch http://identifiers.org/snomedct/718577005 property_value: exactMatch https://omim.org/entry/300431 property_value: exactMatch Orphanet:1193 property_value: excluded_subClassOf MONDO:0015159 {source="Orphanet:1193"} property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:1193"} [Term] id: MONDO:0010325 name: X-linked intellectual disability, Stocco dos Santos type subset: ordo_malformation_syndrome {source="Orphanet:85288"} synonym: "intellectual developmental disorder, X-linked syndromic, Stocco dos Santos type" EXACT [OMIM:300434, OMIM:genemap2] synonym: "intellectual disability, Stocco dos Santos type" RELATED [GARD:0001133] synonym: "intellectual disability, X-linked, Stocco Dos Santos type" RELATED [OMIM:300434] synonym: "mental retardation, Stocco dos Santos type" RELATED DEPRECATED [GARD:0001133] synonym: "mental retardation, X-linked, Stocco Dos Santos type" RELATED DEPRECATED [OMIM:300434] synonym: "SDSX" RELATED DEPRECATED [OMIM:300434] synonym: "Sdsx" RELATED [OMIM:300434] synonym: "Stocco dos Santos syndrome" RELATED [GARD:0001133] synonym: "Stocco DOS Santos X-linked intellectual disability syndrome" RELATED [OMIM:300434] synonym: "Stocco DOS Santos X-linked mental retardation syndrome" RELATED DEPRECATED [OMIM:300434] xref: DOID:0112126 {source="MONDO:equivalentTo"} xref: MESH:C537495 {source="MONDO:equivalentTo"} xref: OMIM:300434 {source="Orphanet:85288", source="MONDO:equivalentTo", source="Orphanet:85288/e"} xref: Orphanet:85288 {source="MONDO:equivalentTo", source="OMIM:300434"} xref: SCTID:718910006 {source="MONDO:equivalentTo"} xref: UMLS:C1845530 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300434"} is_a: MONDO:0020119 {source="OMIM:300434", source="Orphanet:85288", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch DOID:0112126 property_value: exactMatch http://identifiers.org/mesh/C537495 property_value: exactMatch http://identifiers.org/snomedct/718910006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845530 property_value: exactMatch https://omim.org/entry/300434 property_value: exactMatch Orphanet:85288 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010327 name: HSD10 mitochondrial disease def: "A rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy." [Orphanet:391417] subset: ordo_clinical_subtype {source="Orphanet:85295"} subset: ordo_disease {source="Orphanet:391417"} synonym: "17 beta-hydroxysteroid dehydrogenase type 10 deficiency" RELATED [GARD:0010716] synonym: "17-beta-hydroxysteroid dehydrogenase 10 deficiency" EXACT [OMIM:300438] synonym: "17-beta-hydroxysteroid dehydrogenase X deficiency" EXACT [OMIM:300438] synonym: "2-methyl-3-hydroxybutyric aciduria" EXACT [Orphanet:391417] synonym: "2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency" EXACT [OMIM:300438, Orphanet:391417] synonym: "2M3HBA" RELATED ABBREVIATION [GARD:0010716] synonym: "3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency" RELATED [GARD:0010716] synonym: "3-hydroxyacyl-CoA dehydrogenase 2 deficiency" EXACT [OMIM:300438] synonym: "3H2MBD deficiency" RELATED [GARD:0010716] synonym: "chorioathetosis with mental retardation and abnormal behavior" EXACT DEPRECATED [OMIM:300220] synonym: "chorioathetosis with mental retardation and abnormal behaviour" EXACT OMO:0003005 [] synonym: "HSD10 deficiency" EXACT [OMIM:300438, Orphanet:391417] synonym: "HSD10 deficiency, atypical type" NARROW [DOID:0060810, Orphanet:85295] synonym: "HSD10 mitochondrial disease" EXACT [OMIM:300438] synonym: "HSD10 mitochondrial disease, X-linked dominant" EXACT [OMIM:300438, OMIM:genemap2] synonym: "HSD10MD" EXACT ABBREVIATION [OMIM:300438] synonym: "HSD17B10 deficiency" EXACT [OMIM:300438] synonym: "hydroxyacyl-CoA dehydrogenase II deficiency" RELATED [GARD:0010716] synonym: "mental retardation with chorioathetosis and abnormal behavior" EXACT DEPRECATED [OMIM:300220] synonym: "mental retardation with chorioathetosis and abnormal behaviour" EXACT OMO:0003005 [] synonym: "mental retardation, X-linked syndromic 10" EXACT DEPRECATED [DOID:0060810] synonym: "mental retardation, X-linked, syndromic 10" EXACT DEPRECATED [MONDO:Lexical, OMIM:300220] synonym: "mental retardation, X-linked, syndromic type 10" EXACT DEPRECATED [MONDORULE:2, OMIM:300220] synonym: "MHBD deficiency" EXACT [OMIM:300438, Orphanet:391417] synonym: "MRXS10" EXACT DEPRECATED [DOID:0060810, MONDO:Lexical, OMIM:300220] synonym: "syndromic X-linked intellectual disability type 10" NARROW [MONDO:0010272, Orphanet:85295] synonym: "X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome" NARROW [DOID:0060810, Orphanet:85295] synonym: "X-linked intellectual disability-choreoathetosis-abnormal behaviour syndrome" NARROW OMO:0003005 [] xref: DOID:0060810 {source="MONDO:equivalentTo"} xref: MESH:C536080 {source="MONDO:equivalentTo"} xref: MESH:C564560 {source="MONDO:equivalentTo"} xref: OMIM:300220 {source="Orphanet:85295/e", source="MONDO:equivalentObsolete", source="DOID:0060810"} xref: OMIM:300438 {source="Orphanet:391417", source="MONDO:equivalentTo", source="Orphanet:391417/e", source="Orphanet:85295"} xref: Orphanet:391417 {source="MONDO:equivalentTo", source="OMIM:300438"} xref: Orphanet:85295 {source="OMIM:300220", source="DOID:0060810", source="MONDO:mondoIsBroaderThanSource"} xref: SCTID:791000124107 {source="MONDO:equivalentTo"} xref: UMLS:C1846168 {source="MONDO:equivalentObsolete", source="OMIM:300220", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:CN204973 {source="MONDO:equivalentTo"} is_a: MONDO:0019213 {source="Orphanet:391417"} ! cerebral organic aciduria property_value: exactMatch DOID:0060810 property_value: exactMatch http://identifiers.org/mesh/C536080 property_value: exactMatch http://identifiers.org/mesh/C564560 property_value: exactMatch http://identifiers.org/snomedct/791000124107 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204973 property_value: exactMatch https://omim.org/entry/300438 property_value: exactMatch Orphanet:391417 property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:391417"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010328 name: alpha-thalassemia-myelodysplastic syndrome def: "Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH)." [Orphanet:231401] subset: ordo_disease {source="Orphanet:231401"} synonym: "acquired haemoglobin H disease" EXACT OMO:0003005 [] synonym: "acquired HbH disease" EXACT [Orphanet:231401] synonym: "acquired hemoglobin H disease" EXACT [Orphanet:231401] synonym: "ALPHA-thalassemia myelodysplasia syndrome" RELATED [MONDO:Lexical, OMIM:300448] synonym: "alpha-thalassemia myelodysplasia syndrome, somatic" EXACT [OMIM:300448, OMIM:genemap2] synonym: "ATMDS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300448, Orphanet:231401] synonym: "Haemoglobin H disease, acquired" RELATED OMO:0003005 [] synonym: "Hemoglobin H disease, acquired" RELATED [OMIM:300448] xref: DOID:0112125 {source="MONDO:equivalentTo"} xref: ICD10CM:D56.0 {source="MONDO:relatedTo", source="Orphanet:231401", source="Orphanet:231401/attributed", source="Orphanet:231401/ntbt"} xref: ICD9:282.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563023 {source="MONDO:equivalentTo"} xref: OMIM:300448 {source="MONDO:equivalentTo", source="Orphanet:231401", source="Orphanet:231401/e"} xref: Orphanet:231401 {source="MONDO:equivalentTo", source="OMIM:300448"} xref: SCTID:307343001 {source="MONDO:equivalentTo"} xref: UMLS:C0585216 {source="MONDO:equivalentTo", source="Orphanet:231401", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300448"} is_a: MONDO:0016513 {source="Orphanet:231401"} ! alpha-thalassemia-related diseases property_value: exactMatch DOID:0112125 property_value: exactMatch http://identifiers.org/mesh/C563023 property_value: exactMatch http://identifiers.org/snomedct/307343001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0585216 property_value: exactMatch https://omim.org/entry/300448 property_value: exactMatch Orphanet:231401 property_value: excluded_subClassOf MONDO:0021141 {comment="acquired through somatic mutations"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010332 name: X-linked intellectual disability-cubitus valgus-dysmorphism syndrome def: "An X-linked syndromic intellectual disability characterized by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive." [Orphanet:85280] subset: ordo_malformation_syndrome {source="Orphanet:85280"} synonym: "cubitus valgus with intellectual disability and unusual facies" RELATED [OMIM:300471] synonym: "cubitus valgus with mental retardation and unusual facies" RELATED DEPRECATED [OMIM:300471] synonym: "Cubitus valgus with mental retardation and unusual facies, X-linked recessive" EXACT [OMIM:300471, OMIM:genemap2] xref: MESH:C564510 {source="MONDO:equivalentTo"} xref: OMIM:300471 {source="MONDO:equivalentTo", source="Orphanet:85280", source="Orphanet:85280/e"} xref: Orphanet:85280 {source="OMIM:300471", source="MONDO:equivalentTo"} xref: UMLS:C1845450 {source="OMIM:300471", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:85280"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:85280"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020119 {source="Orphanet:85280", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch http://identifiers.org/mesh/C564510 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845450 property_value: exactMatch https://omim.org/entry/300471 property_value: exactMatch Orphanet:85280 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010333 name: corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome def: "A developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." [Orphanet:52055] subset: ordo_malformation_syndrome {source="Orphanet:52055"} synonym: "agenesis of the corpus callosum-intellectual disability-coloboma-micrognathia syndrome" RELATED [GARD:0012486] synonym: "corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia, X-linked recessive" EXACT [OMIM:300472, OMIM:genemap2] synonym: "corpus callosum, agenesis of, with intellectual disability, ocular coloboma and micrognathia" EXACT [DOID:0060816] synonym: "corpus callosum, agenesis of, with intellectual disability, ocular coloboma, and micrognathia" RELATED [OMIM:300472] synonym: "corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia" EXACT DEPRECATED [DOID:0060816] synonym: "corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia" RELATED DEPRECATED [OMIM:300472] synonym: "Graham-Cox syndrome" EXACT [DOID:0060816, Orphanet:52055] synonym: "intellectual disability, X-linked, syndromic 28" EXACT [DOID:0060816, OMIM:300472] synonym: "mental retardation, X-linked, syndromic 28" EXACT DEPRECATED [DOID:0060816, OMIM:300472] synonym: "MRXS28" EXACT ABBREVIATION [DOID:0060816] xref: DOID:0060816 {source="MONDO:equivalentTo"} xref: MESH:C564509 {source="MONDO:equivalentTo"} xref: OMIM:300472 {source="Orphanet:52055/e", source="MONDO:equivalentTo", source="Orphanet:52055", source="DOID:0060816"} xref: Orphanet:52055 {source="OMIM:300472", source="MONDO:equivalentTo", source="DOID:0060816"} xref: SCTID:722282008 {source="MONDO:equivalentTo"} is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability is_a: MONDO:0021147 {source="MONDO:0017122-obsoleted"} ! disorder of development or morphogenesis property_value: exactMatch DOID:0060816 property_value: exactMatch http://identifiers.org/mesh/C564509 property_value: exactMatch http://identifiers.org/snomedct/722282008 property_value: exactMatch https://omim.org/entry/300472 property_value: exactMatch Orphanet:52055 property_value: excluded_subClassOf MONDO:0015159 {source="Orphanet:52055"} property_value: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:300472", source="DOID:0060816", source="OMIM:300472", source="Orphanet:52055"} property_value: excluded_subClassOf MONDO:0020145 {source="MONDO:0020149-obsoleted"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010334 name: severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome def: "Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy)." [Orphanet:369939] subset: ordo_malformation_syndrome {source="Orphanet:369939"} synonym: "contiguous ABCD1/Dxs1375E deletion syndrome" RELATED [OMIM:300475] synonym: "DDCH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300475] synonym: "deafness, dystonia, and cerebral hypomyelination" RELATED [MONDO:Lexical, OMIM:300475] synonym: "deafness, dystonia, and cerebral hypomyelination, X-linked recessive" EXACT [OMIM:300475, OMIM:genemap2] xref: DOID:0112123 {source="MONDO:equivalentTo"} xref: MESH:C564508 {source="MONDO:equivalentTo"} xref: OMIM:300475 {source="Orphanet:369939/e", source="MONDO:equivalentTo", source="Orphanet:369939"} xref: Orphanet:369939 {source="MONDO:equivalentTo", source="OMIM:300475"} xref: UMLS:CN204816 {source="MONDO:equivalentTo"} is_a: MONDO:0000761 {source="DC-OMIM:300475"} ! syndrome caused by partial chromosomal deletion is_a: MONDO:0044807 {source="MONDO:0018265-obsoleted"} ! inherited dystonia property_value: exactMatch DOID:0112123 property_value: exactMatch http://identifiers.org/mesh/C564508 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204816 property_value: exactMatch https://omim.org/entry/300475 property_value: exactMatch Orphanet:369939 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:369939"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010336 name: orofaciodigital syndrome VIII def: "Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." [Orphanet:2755] subset: ordo_malformation_syndrome {source="Orphanet:2755"} synonym: "OFD syndrome 8" RELATED [GARD:0004060] synonym: "OFD8" EXACT ABBREVIATION [DOID:0060378, MONDO:Lexical, OMIM:300484, Orphanet:2755] synonym: "Ofds 8" RELATED [OMIM:300484] synonym: "oral facial digital syndrome 8" RELATED [GARD:0004060] synonym: "oral facial digital syndrome type 8" RELATED [GARD:0004060] synonym: "oral-facial-digital syndrome type 8" EXACT [Orphanet:2755] synonym: "oral-Facial-digital syndrome with hypoplastic Epiglottis" RELATED [OMIM:300484] synonym: "oral-facial-digital syndrome, Edwards type" EXACT [Orphanet:2755] synonym: "oral-Facial-digital syndrome, type 8" RELATED [OMIM:300484] synonym: "orofaciodigital syndrome 8" RELATED [GARD:0004060] synonym: "orofaciodigital syndrome type 8" RELATED [Orphanet:2755] synonym: "orofaciodigital syndrome type VIII" EXACT [DOID:0060378, MONDORULE:3] synonym: "orofaciodigital syndrome VIII" EXACT [MONDO:Lexical, OMIM:300484] synonym: "orofaciodigital syndrome VIII, X-linked recessive" EXACT [OMIM:300484, OMIM:genemap2] synonym: "orofaciodigital syndrome, Edwards type" EXACT [Orphanet:2755] xref: DOID:0060378 {source="MONDO:equivalentTo"} xref: MESH:C557820 {source="DOID:0060378", source="MONDO:equivalentTo"} xref: OMIM:300484 {source="DOID:0060378", source="MONDO:equivalentTo", source="Orphanet:2755", source="Orphanet:2755/e"} xref: Orphanet:2755 {source="DOID:0060378", source="OMIM:300484", source="MONDO:equivalentTo"} xref: SCTID:722106001 {source="MONDO:equivalentTo"} xref: UMLS:C0152096 {source="MONDO:relatedTo", source="OMIM:300484"} is_a: MONDO:0015375 {source="DC-OMIM:300484", source="DOID:0060378", source="MESH:C557820", source="Orphanet:2755"} ! orofaciodigital syndrome property_value: exactMatch DOID:0060378 property_value: exactMatch http://identifiers.org/mesh/C557820 property_value: exactMatch http://identifiers.org/snomedct/722106001 property_value: exactMatch https://omim.org/entry/300484 property_value: exactMatch Orphanet:2755 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010337 name: X-linked intellectual disability-cerebellar hypoplasia syndrome def: "X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities." [Orphanet:137831] subset: gard_rare subset: ordo_disease {source="Orphanet:137831"} synonym: "intellectual developmental disorder, X-linked syndromic, Billuart type, X-linked recessive" EXACT [OMIM:300486, OMIM:genemap2] synonym: "intellectual disability X-linked 60 (formerly)" RELATED [GARD:0009947] synonym: "intellectual disability X-linked with cerebellar hypoplasia and distinctive facial appearance" RELATED [GARD:0009947] synonym: "intellectual disability, X-linked 60" RELATED [OMIM:300486] synonym: "intellectual disability, X-linked 60, formerly" RELATED [OMIM:300486] synonym: "intellectual disability, X-linked, with cerebellar hypoplasia and distinctive facial appearance" RELATED [GARD:0013093, OMIM:300486] synonym: "mental retardation X-linked 60 (formerly)" RELATED DEPRECATED [GARD:0009947] synonym: "mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance" RELATED DEPRECATED [GARD:0009947] synonym: "mental retardation, X-linked 60" RELATED DEPRECATED [OMIM:300486] synonym: "mental retardation, X-linked 60, formerly" RELATED DEPRECATED [OMIM:300486] synonym: "mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance" RELATED DEPRECATED [OMIM:300486] synonym: "MRX60 (formerly)" RELATED [GARD:0009947] synonym: "Oligophrenin-1 syndrome" EXACT [Orphanet:137831] synonym: "OPHN1 deficiency" RELATED [GARD:0013093] synonym: "OPHN1 syndrome" EXACT [Orphanet:137831] synonym: "OPHN1 XLMR" RELATED [GARD:0013093] synonym: "OPHN1 XLMR, X-linked intellectual disability" RELATED [GARD:0013093] synonym: "OPHN1- related XLID" RELATED [GARD:0013093] synonym: "X-linked intellectual Deficit with cerebellar Hypoplasia" RELATED [GARD:0013093] synonym: "X-linked intellectual disability-cerebellar hypoplasia syndrome" EXACT [] xref: DOID:0080311 {source="MONDO:equivalentTo"} xref: MESH:C537456 {source="MONDO:equivalentTo"} xref: OMIM:300486 {source="Orphanet:137831", source="GARD:0009947", source="MONDO:equivalentTo", source="Orphanet:137831/e"} xref: Orphanet:137831 {source="MONDO:equivalentTo", source="OMIM:300486"} xref: SCTID:719136005 {source="MONDO:equivalentTo"} is_a: MONDO:0020022 ! central nervous system malformation is_a: MONDO:0020119 {source="Orphanet:137831", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation property_value: exactMatch DOID:0080311 property_value: exactMatch http://identifiers.org/mesh/C537456 property_value: exactMatch http://identifiers.org/snomedct/719136005 property_value: exactMatch https://omim.org/entry/300486 property_value: exactMatch Orphanet:137831 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9947/mental-retardation-x-linked-with-cerebellar-hypoplasia-and-distinctive-facial-appearance xsd:anyURI {source="GARD:0009947"} [Term] id: MONDO:0010338 name: X-linked distal spinal muscular atrophy type 3 def: "X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males." [Orphanet:139557] subset: ordo_disease {source="Orphanet:139557"} synonym: "ATP7A spinal muscular atrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "ATP7A-related distal motor neuropathy" EXACT [Orphanet:139557] synonym: "DSMAX" EXACT ABBREVIATION [Orphanet:139557] synonym: "Dsmax" RELATED [OMIM:300489] synonym: "SMAX3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300489, Orphanet:139557] synonym: "spinal muscular atrophy caused by mutation in ATP7A" EXACT [MONDO:design_pattern] synonym: "spinal muscular atrophy, distal, X-linked 3" RELATED [MONDO:Lexical, OMIM:300489] synonym: "spinal muscular atrophy, distal, X-linked 3, X-linked recessive" EXACT [OMIM:300489, OMIM:genemap2] synonym: "spinal muscular atrophy, distal, X-linked recessive" RELATED [OMIM:300489] synonym: "spinal muscular atrophy, distal, X-linked type 3" EXACT [MONDORULE:1, OMIM:300489] synonym: "X-linked dHMN type 3" EXACT [Orphanet:139557] synonym: "X-linked dHMN3" EXACT [Orphanet:139557] synonym: "X-linked distal hereditary motor neuropathy type 3" EXACT [Orphanet:139557] synonym: "X-linked dSMA type 3" EXACT [Orphanet:139557] synonym: "X-linked dSMA3" EXACT [Orphanet:139557] xref: DOID:0111196 {source="MONDO:equivalentTo"} xref: MESH:C564506 {source="MONDO:equivalentTo"} xref: OMIM:300489 {source="Orphanet:139557", source="MONDO:equivalentTo", source="Orphanet:139557/e"} xref: Orphanet:139557 {source="MONDO:equivalentTo", source="OMIM:300489"} xref: SCTID:766764008 {source="MONDO:equivalentTo"} xref: UMLS:C1845359 {source="Orphanet:139557", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300489"} is_a: EFO:0008525 {source="DC-OMIM:300489", source="MESH:C564506", source="MONDO:Redundant"} ! spinal muscular atrophy is_a: MONDO:0018451 {source="Orphanet:139557"} ! X-linked distal hereditary motor neuropathy property_value: exactMatch DOID:0111196 property_value: exactMatch http://identifiers.org/mesh/C564506 property_value: exactMatch http://identifiers.org/snomedct/766764008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845359 property_value: exactMatch https://omim.org/entry/300489 property_value: exactMatch Orphanet:139557 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010339 name: epilepsy, X-linked 1, with variable learning disabilities and behavior disorders def: "An epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behavior. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12)." [Orphanet:85294] subset: ordo_disease {source="Orphanet:85294"} synonym: "epilepsy, X-linked, with variable learning disabilities and behavior disorders" RELATED [OMIM:300491] synonym: "epilepsy, X-linked, with variable learning disabilities and behavior disorders, X-linked recessive, X-linked dominant" EXACT [OMIM:300491, OMIM:genemap2] synonym: "epilepsy, X-linked, with variable learning disabilities and behaviour disorders" RELATED OMO:0003005 [] synonym: "epilepsy, X-linked, with variable learning disabilities and behaviour disorders, X-linked recessive, X-linked dominant" EXACT OMO:0003005 [] synonym: "X-linked epilepsy-learning disabilities-behavior disorders syndrome" EXACT [Orphanet:85294] xref: DOID:0112122 {source="MONDO:equivalentTo"} xref: MESH:C564505 {source="MONDO:equivalentTo"} xref: OMIM:300491 {source="Orphanet:85294/e", source="MONDO:equivalentTo", source="Orphanet:85294"} xref: Orphanet:85294 {source="OMIM:300491", source="MONDO:equivalentTo"} xref: UMLS:C1845343 {source="OMIM:300491", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:85294"} is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability is_a: MONDO:0859390 {source="OMIM:300491"} ! epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features property_value: exactMatch DOID:0112122 property_value: exactMatch http://identifiers.org/mesh/C564505 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845343 property_value: exactMatch https://omim.org/entry/300491 property_value: exactMatch Orphanet:85294 property_value: excluded_subClassOf MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} property_value: excluded_subClassOf MONDO:0015653 {source="Orphanet:85294"} property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:85294"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010353 name: deafness-intellectual disability, Martin-Probst type syndrome def: "A syndrome characterized by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localized to the q1-21 region of the X chromosome." [Orphanet:85321] subset: ordo_malformation_syndrome {source="Orphanet:85321"} synonym: "deafness-intellectual disability syndrome, Martin-Probst type" RELATED [Orphanet:85321] synonym: "intellectual disability, X-linked, syndromic, MARTIN-Probst type" RELATED [MONDO:Lexical, OMIM:300519] synonym: "intellectual disability, X-linked, syndromic, Martin-Probst type" EXACT [DOID:0060830] synonym: "Martin-Probst deafness-intellectual disability syndrome" RELATED [OMIM:300519] synonym: "Martin-Probst deafness-mental retardation syndrome" RELATED DEPRECATED [OMIM:300519] synonym: "Martin-Probst syndrome" EXACT [DOID:0060830, Orphanet:85321] synonym: "martin-probst syndrome, X-linked recessive" EXACT [OMIM:300519, OMIM:genemap2] synonym: "mental retardation, X-linked, syndromic, MARTIN-Probst type" RELATED DEPRECATED [MONDO:Lexical, OMIM:300519] synonym: "mental retardation, X-linked, syndromic, Martin-Probst type" EXACT DEPRECATED [DOID:0060830] synonym: "MRXSMP" RELATED DEPRECATED [MONDO:Lexical, OMIM:300519] synonym: "X-linked deafness-intellectual disability syndrome syndrome" EXACT [Orphanet:85321] xref: DOID:0060830 {source="MONDO:equivalentTo"} xref: MESH:C564495 {source="MONDO:equivalentTo"} xref: OMIM:300519 {source="Orphanet:85321", source="MONDO:equivalentTo", source="Orphanet:85321/e", source="DOID:0060830"} xref: Orphanet:85321 {source="OMIM:300519", source="MONDO:equivalentTo", source="DOID:0060830"} xref: SCTID:721087008 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: exactMatch DOID:0060830 property_value: exactMatch http://identifiers.org/mesh/C564495 property_value: exactMatch http://identifiers.org/snomedct/721087008 property_value: exactMatch https://omim.org/entry/300519 property_value: exactMatch Orphanet:85321 property_value: excluded_subClassOf MONDO:0015159 {source="Orphanet:85321"} property_value: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:300519", source="DOID:0060830", source="OMIM:300519", source="Orphanet:85321"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010354 name: Allan-Herndon-Dudley syndrome def: "A syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency." [Orphanet:59] subset: gard_rare {source="GARD:0005617"} subset: ordo_clinical_subtype {source="Orphanet:59"} synonym: "AHDS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300523, Orphanet:59] synonym: "ALLAN-Herndon syndrome" EXACT [DOID:0050631] synonym: "Allan-Herndon syndrome" RELATED [OMIM:300523] synonym: "ALLAN-Herndon-DUDLEY syndrome" RELATED [OMIM:300523] synonym: "Allan-Herndon-Dudley syndrome" EXACT [MONDO:Lexical, OMIM:300523] synonym: "intellectual disability and muscular atrophy" RELATED [GARD:0005617, OMIM:300523] synonym: "intellectual disability, X-linked, with hypotonia" RELATED [OMIM:300523] synonym: "MCT8 deficiency" EXACT [Orphanet:59] synonym: "MCT8-specific thyroid hormone cell Membrane transporter deficiency" EXACT [NCIT:C118843] synonym: "mental retardation and muscular atrophy" RELATED DEPRECATED [OMIM:300523] synonym: "mental retardation, X-linked, with hypotonia" RELATED DEPRECATED [OMIM:300523] synonym: "monocarboxylate transporter 8 deficiency" EXACT [OMIM:300523, Orphanet:59] synonym: "monocarboxylate transporter-8 deficiency" RELATED [GARD:0005617] synonym: "T3 resisitence" RELATED [GARD:0005617] synonym: "T3 resistance" RELATED [OMIM:300523] synonym: "triiodothyronine resistance" RELATED [OMIM:300523] synonym: "triiodothyronine resistence" RELATED [GARD:0005617] synonym: "X-linked intellectual disability with hypotonia" RELATED [GARD:0005617] synonym: "X-linked intellectual disability-hypotonia syndrome" EXACT [Orphanet:59] xref: DOID:0050631 {source="MONDO:equivalentTo"} xref: MESH:C537047 {source="MONDO:equivalentTo", source="Orphanet:59", source="Orphanet:59/e"} xref: NCIT:C118843 {source="MONDO:equivalentTo"} xref: OMIM:300523 {source="DOID:0050631", source="MONDO:equivalentTo", source="Orphanet:59", source="Orphanet:59/e"} xref: Orphanet:59 {source="MONDO:equivalentTo", source="OMIM:300523"} xref: SCTID:702327009 {source="MONDO:equivalentTo"} xref: UMLS:C0795889 {source="MONDO:equivalentTo", source="NCIT:C118843", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:59", source="OMIM:300523"} is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch DOID:0050631 property_value: exactMatch http://identifiers.org/mesh/C537047 property_value: exactMatch http://identifiers.org/snomedct/702327009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795889 property_value: exactMatch https://omim.org/entry/300523 property_value: exactMatch NCIT:C118843 property_value: exactMatch Orphanet:59 property_value: excluded_subClassOf MONDO:0016412 {source="Orphanet:59"} property_value: excluded_subClassOf MONDO:0017226 {source="Orphanet:59"} property_value: excluded_subClassOf MONDO:0017916 {source="Orphanet:59"} property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:59"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5617/allan-herndon-dudley-syndrome xsd:anyURI {source="GARD:0005617"} [Term] id: MONDO:0010355 name: syndromic X-linked intellectual disability Claes-Jensen type subset: ordo_malformation_syndrome {source="Orphanet:85279"} synonym: "intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, X-linked recessive" EXACT [OMIM:300534, OMIM:genemap2] synonym: "intellectual disability, X-linked, syndromic, Claes-Jensen type" EXACT [DOID:0060809, MONDO:Lexical, OMIM:300534] synonym: "intellectual disability, X-linked, syndromic, JARID1C-related" RELATED [OMIM:300534] synonym: "mental retardation, X-linked, syndromic, Claes-Jensen type" EXACT DEPRECATED [DOID:0060809, MONDO:Lexical, OMIM:300534] synonym: "mental retardation, X-linked, syndromic, JARID1C-related" RELATED DEPRECATED [OMIM:300534] synonym: "MRXSCJ" EXACT ABBREVIATION [DOID:0060809, MONDO:Lexical, OMIM:300534] synonym: "MRXSJ" EXACT ABBREVIATION [DOID:0060809] synonym: "syndromic X-linked intellectual disability Claes-Jensen type" EXACT [] synonym: "syndromic X-linked intellectual disability due to JARID1C mutation" EXACT [DOID:0060809] synonym: "syndromic X-linked intellectual disability JARID1C-related" EXACT [DOID:0060809] synonym: "syndromic X-linked mental retardation JARID1C-related" EXACT DEPRECATED [DOID:0060809] xref: DOID:0060809 {source="MONDO:equivalentTo"} xref: MESH:C564494 {source="MONDO:equivalentTo"} xref: OMIM:300534 {source="Orphanet:85279", source="DOID:0060809", source="MONDO:equivalentTo", source="Orphanet:85279/e"} xref: Orphanet:85279 {source="DOID:0060809", source="MONDO:equivalentTo", source="OMIM:300534"} xref: SCTID:719161008 {source="MONDO:equivalentTo"} xref: UMLS:C1845243 {source="Orphanet:85279", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300534"} xref: UMLS:C4304915 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:85279"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020119 {source="DC-OMIM:300534", source="DOID:0060809", source="OMIM:300534", source="Orphanet:85279", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch DOID:0060809 property_value: exactMatch http://identifiers.org/mesh/C564494 property_value: exactMatch http://identifiers.org/snomedct/719161008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845243 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304915 property_value: exactMatch https://omim.org/entry/300534 property_value: exactMatch Orphanet:85279 property_value: excluded_subClassOf MONDO:0015653 {source="Orphanet:85279"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010356 name: nephrogenic syndrome of inappropriate antidiuresis def: "Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels." [Orphanet:93606] subset: ordo_disease {source="Orphanet:93606"} synonym: "nephrogenic syndrome of inappropriate antidiuresis" EXACT [MONDO:Lexical, OMIM:300539] synonym: "nephrogenic syndrome of inappropriate antidiuresis, X-linked recessive" EXACT [OMIM:300539, OMIM:genemap2] synonym: "NSIAD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300539, Orphanet:93606] xref: DOID:0112121 {source="MONDO:equivalentTo"} xref: MESH:C564491 {source="MONDO:equivalentTo"} xref: OMIM:300539 {source="Orphanet:93606/e", source="MONDO:equivalentTo", source="Orphanet:93606"} xref: Orphanet:93606 {source="MONDO:equivalentTo", source="OMIM:300539"} xref: SCTID:723440000 {source="MONDO:equivalentTo"} xref: UMLS:C1845202 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300539", source="Orphanet:93606"} is_a: MONDO:0015962 {source="Orphanet:93606"} ! inherited renal tubular disease property_value: exactMatch DOID:0112121 property_value: exactMatch http://identifiers.org/mesh/C564491 property_value: exactMatch http://identifiers.org/snomedct/723440000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845202 property_value: exactMatch https://omim.org/entry/300539 property_value: exactMatch Orphanet:93606 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010359 name: Dent disease type 2 def: "Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features." [Orphanet:93623] subset: ordo_clinical_subtype {source="Orphanet:93623"} synonym: "DENT disease 2" RELATED [OMIM:300555] synonym: "dent disease 2, X-linked recessive" EXACT [OMIM:300555, OMIM:genemap2] synonym: "Dent disease caused by mutation in OCRL" EXACT [MONDO:design_pattern] synonym: "Dent disease type 2" EXACT [MONDORULE:1, OMIM:300555] synonym: "nephrolithiasis type 2" EXACT [Orphanet:93623] synonym: "OCRL Dent disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MESH:C564487 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: OMIM:300555 {source="MONDO:equivalentTo", source="Orphanet:93623", source="Orphanet:93623/e"} xref: Orphanet:93623 {source="MONDO:equivalentTo", source="OMIM:300555"} xref: SCTID:717790004 {source="MONDO:equivalentTo"} xref: UMLS:C1845167 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300555", source="Orphanet:93623"} xref: UMLS:C4305529 {source="MONDO:equivalentTo"} is_a: MONDO:0015612 {source="DC-OMIM:300555", source="MONDO:Redundant", source="OMIM:300555", source="Orphanet:93623"} ! Dent disease property_value: exactMatch http://identifiers.org/mesh/C564487 property_value: exactMatch http://identifiers.org/snomedct/717790004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845167 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305529 property_value: exactMatch https://omim.org/entry/300555 property_value: exactMatch Orphanet:93623 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010362 name: glycogen storage disease IXd def: "A benign form of phosphorylase kinase deficiency caused by variants in PHKA1, characterized by exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness." [https://www.ncbi.nlm.nih.gov/books/NBK55061/] subset: gard_rare subset: ordo_disease {source="Orphanet:715"} synonym: "glycogen storage disease caused by mutation in PHKA1" EXACT [MONDO:design_pattern] synonym: "glycogen storage disease due to muscle phosphorylase kinase deficiency" EXACT [DOID:0111040, https://www.ncbi.nlm.nih.gov/books/NBK55061/] synonym: "glycogen storage disease type 9D" EXACT [DOID:0111040, https://www.ncbi.nlm.nih.gov/books/NBK55061/, Orphanet:715] synonym: "glycogen storage disease type IXd" EXACT [DOID:0111040, MONDORULE:5, Orphanet:715] synonym: "glycogen storage disease, type IXd" RELATED [MONDO:Lexical, OMIM:300559] synonym: "glycogenosis due to muscle phosphorylase kinase deficiency" EXACT [DOID:0111040, Orphanet:715] synonym: "glycogenosis type 9D" EXACT [DOID:0111040, Orphanet:715] synonym: "glycogenosis type IXd" EXACT [DOID:0111040, Orphanet:715] synonym: "GSD due to muscle phosphorylase kinase deficiency" EXACT [DOID:0111040, Orphanet:715] synonym: "GSD IXd" EXACT [DOID:0111040] synonym: "GSD type 9D" EXACT [DOID:0111040, https://www.ncbi.nlm.nih.gov/books/NBK55061/, Orphanet:715] synonym: "GSD type IXd" EXACT [DOID:0111040, https://www.ncbi.nlm.nih.gov/books/NBK55061/, Orphanet:715] synonym: "GSD Vb" RELATED DEPRECATED [https://www.ncbi.nlm.nih.gov/books/NBK55061/#gsd9.Nomenclature] synonym: "GSD9D" EXACT ABBREVIATION [DOID:0111040, MONDO:Lexical, OMIM:300559] synonym: "muscle glycogenosis, X-linked" RELATED [OMIM:300559] synonym: "muscle glycogenosis, X-linked recessive" EXACT [OMIM:300559, OMIM:genemap2] synonym: "muscle phosphorylase kinase deficiency" EXACT [DOID:0111040, OMIM:300559] synonym: "muscular phosphorylase kinase deficiency" RELATED [GARD:0003858] synonym: "PHKA1 glycogen storage disease" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "PHKA1-related glycogen storage disease type IX" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/] xref: DOID:0111040 {source="MONDO:equivalentTo"} xref: MESH:C564485 {source="MONDO:equivalentTo"} xref: OMIM:300559 {source="MONDO:equivalentTo", source="Orphanet:715", source="DOID:0111040", source="https://www.ncbi.nlm.nih.gov/books/NBK55061/", source="Orphanet:715/e"} xref: Orphanet:715 {source="MONDO:equivalentTo", source="DOID:0111040", source="GARD:0003858", source="OMIM:300559"} is_a: MONDO:0002412 {source="PMID:33340416"} ! disorder of glycogen metabolism property_value: exactMatch DOID:0111040 property_value: exactMatch http://identifiers.org/mesh/C564485 property_value: exactMatch https://omim.org/entry/300559 property_value: exactMatch Orphanet:715 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3858/muscular-phosphorylase-kinase-deficiency xsd:anyURI {source="GARD:0003858"} [Term] id: MONDO:0010364 name: X-linked intellectual disability-retinitis pigmentosa syndrome def: "X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait." [Orphanet:85332] subset: ordo_disease {source="Orphanet:85332"} synonym: "Aldred syndrome" EXACT [Orphanet:85332] synonym: "chromosome Xp11.3 deletion syndrome" RELATED [OMIM:300578] synonym: "chromosome xp11.3 deletion syndrome, X-linked recessive" EXACT [OMIM:300578, OMIM:genemap2] synonym: "intellectual disability, X-linked, with retinitis pigmentosa" RELATED [OMIM:300578] synonym: "mental retardation, X-linked, with retinitis pigmentosa" RELATED DEPRECATED [OMIM:300578] synonym: "nonspecific intellectual disability associated with retinitis pigmentosa" RELATED [GARD:0008360] synonym: "nonspecific mental retardation associated with retinitis pigmentosa" RELATED DEPRECATED [GARD:0008360] synonym: "retinitis pigmentosa and intellectual disability due to del(X)(p11.3)" EXACT [Orphanet:85332] synonym: "retinitis pigmentosa and intellectual disability due to monosomy Xp11.3" EXACT [Orphanet:85332] synonym: "retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion" EXACT [Orphanet:85332] synonym: "X-linked mental handicap-retinitis pigmentosa syndrome" RELATED [GARD:0008360] xref: ICD10CM:H35.5 {source="Orphanet:85332", source="MONDO:relatedTo", source="Orphanet:85332/attributed", source="Orphanet:85332/ntbt"} xref: OMIM:300578 {source="Orphanet:85332", source="MONDO:equivalentTo", source="Orphanet:85332/e"} xref: Orphanet:85332 {source="MONDO:equivalentTo", source="OMIM:300578"} xref: SCTID:719808002 {source="MONDO:equivalentTo"} xref: UMLS:C0795873 {source="Orphanet:85332", source="MONDO:equivalentTo"} is_a: MONDO:0017004 {source="Orphanet:85332"} ! partial monosomy of the short arm of chromosome X is_a: MONDO:0020119 {source="Orphanet:85332", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch http://identifiers.org/snomedct/719808002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795873 property_value: exactMatch https://omim.org/entry/300578 property_value: exactMatch Orphanet:85332 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010367 name: SHOX-related short stature def: "SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never." [Orphanet:314795] subset: ordo_disease {source="Orphanet:314795"} synonym: "ISS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300582] synonym: "short stature, idiopathic familial" EXACT [OMIM:300582, OMIM:genemap2] synonym: "short stature, idiopathic, X-linked" RELATED [MONDO:Lexical, OMIM:300582] xref: DOID:0112120 {source="MONDO:equivalentTo"} xref: EFO:0008989 {source="MONDO:equivalentTo"} xref: MESH:C564479 {source="MONDO:equivalentTo"} xref: OMIM:300582 {source="Orphanet:314795/e", source="MONDO:equivalentTo", source="Orphanet:314795"} xref: Orphanet:314795 {source="OMIM:300582", source="MONDO:equivalentTo"} xref: SCTID:763868006 {source="MONDO:equivalentTo"} is_a: MONDO:0019697 {source="Orphanet:314795"} ! mesomelic and rhizo-mesomelic dysplasia property_value: exactMatch DOID:0112120 property_value: exactMatch http://identifiers.org/mesh/C564479 property_value: exactMatch http://identifiers.org/snomedct/763868006 property_value: exactMatch https://omim.org/entry/300582 property_value: exactMatch Orphanet:314795 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010371 name: Aland island eye disease def: "An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia." [Orphanet:178333] subset: ordo_disease {source="Orphanet:178333"} synonym: "AIED" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300600, Orphanet:178333] synonym: "ALAND ISLAND eye disease" RELATED [OMIM:300600] synonym: "Aland island eye disease" EXACT [MONDO:Lexical, OMIM:300600] synonym: "Forsius Eriksson type ocular albinism" RELATED [GARD:0010574] synonym: "Forsius-Eriksson syndrome" EXACT [DOID:0050630, Orphanet:178333] synonym: "FORSIUS-Eriksson type ocular albinism" EXACT [DOID:0050630] synonym: "Forsius-Eriksson type ocular albinism" EXACT [OMIM:300600, Orphanet:178333] synonym: "Åland Islands eye disease" RELATED [Orphanet:178333] xref: DOID:0050630 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.5 {source="Orphanet:178333", source="Orphanet:178333/attributed", source="Orphanet:178333/ntbt", source="MONDO:directSiblingOf"} xref: MESH:C562664 {source="MONDO:equivalentTo"} xref: OMIM:300600 {source="DOID:0050630", source="Orphanet:178333", source="MONDO:equivalentTo", source="Orphanet:178333/e"} xref: Orphanet:178333 {source="MONDO:equivalentTo", source="OMIM:300600"} xref: SCTID:266455006 {source="MONDO:equivalentTo"} xref: UMLS:C0268505 {source="Orphanet:178333", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300600"} is_a: EFO:0003839 {source="https://orcid.org/0000-0001-5208-3432"} ! retinopathy is_a: MONDO:0000425 ! X-linked disease property_value: exactMatch DOID:0050630 property_value: exactMatch http://identifiers.org/mesh/C562664 property_value: exactMatch http://identifiers.org/snomedct/266455006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268505 property_value: exactMatch https://omim.org/entry/300600 property_value: exactMatch Orphanet:178333 property_value: excluded_subClassOf MONDO:0019118 {source="Orphanet:178333"} [Term] id: MONDO:0010372 name: obsolete Clark-Baraitser syndrome comment: These were merged in OMIM. property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2457 xsd:anyURI is_obsolete: true replaced_by: MONDO:0030914 [Term] id: MONDO:0010375 name: developmental and epileptic encephalopathy, 8 subset: ordo_disease {source="Orphanet:163985"} synonym: "DEE8" EXACT ABBREVIATION [OMIM:300607] synonym: "developmental and epileptic encephalopathy 8" EXACT [OMIM:300607, OMIM:genemap2] synonym: "early infantile epileptic encephalopathy 8" EXACT [DOID:0080215] synonym: "EIEE8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300607] synonym: "epileptic encephalopathy, early infantile, 8" EXACT [MONDO:Lexical, OMIM:300607] synonym: "epileptic encephalopathy, early infantile, type 8" EXACT [MONDORULE:1, OMIM:300607] synonym: "hyperekplexia and epilepsy" RELATED [OMIM:300607] synonym: "hyperekplexia-epilepsy syndrome" EXACT [Orphanet:163985] xref: DOID:0080215 {source="MONDO:equivalentTo"} xref: MESH:C564474 {source="MONDO:equivalentTo"} xref: OMIM:300607 {source="Orphanet:163985/e", source="MONDO:equivalentTo", source="DOID:0080215", source="Orphanet:163985"} xref: Orphanet:163985 {source="OMIM:300607", source="MONDO:equivalentTo"} xref: UMLS:C1845102 {source="OMIM:300607", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:163985"} is_a: MONDO:0016160 {source="Orphanet:163985"} ! X-linked intellectual disability-epilepsy syndrome is_a: MONDO:0021022 ! hereditary hyperekplexia is_a: MONDO:0100062 {source="DC-OMIM:300607", source="DOID:0080215", source="OMIM:300607"} ! developmental and epileptic encephalopathy is_a: MONDO:0100148 ! X-linked complex neurodevelopmental disorder property_value: exactMatch DOID:0080215 property_value: exactMatch http://identifiers.org/mesh/C564474 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845102 property_value: exactMatch https://omim.org/entry/300607 property_value: exactMatch Orphanet:163985 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010378 name: X-linked hereditary sensory and autonomic neuropathy with hearing loss def: "This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss." [Orphanet:139583] subset: gard_rare {source="GARD:0012731"} subset: ordo_disease {source="Orphanet:139583"} synonym: "auditory neuropathy, X-linked, 1, with peripheral sensory neuropathy" RELATED [OMIM:300614] synonym: "deafness, X-linked 5" RELATED [GARD:0012731, MONDO:Lexical, OMIM:300614] synonym: "deafness, X-linked 5, X-linked recessive" NARROW [OMIM:300614, OMIM:genemap2] synonym: "DFNX5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300614] synonym: "X-linked auditory neuropathy with peripheral sensory neuropathy type 1" EXACT [Orphanet:139583] synonym: "X-linked hereditary sensory and autonomic neuropathy with deafness" NARROW [OMIM:300614] synonym: "X-linked HSAN with deafness" NARROW [Orphanet:139583] xref: DOID:0111741 {source="MONDO:equivalentTo"} xref: MESH:C564472 {source="MONDO:equivalentTo"} xref: OMIM:300614 {source="Orphanet:139583/e", source="MONDO:equivalentTo", source="Orphanet:139583"} xref: Orphanet:139583 {source="MONDO:equivalentTo", source="OMIM:300614"} xref: SCTID:719838008 {source="MONDO:equivalentTo"} xref: UMLS:C1845095 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300614"} xref: UMLS:C4304400 {source="MONDO:equivalentTo"} is_a: MONDO:0015364 {source="Orphanet:139583"} ! hereditary sensory and autonomic neuropathy is_a: MONDO:0019586 {source="DC-OMIM:300614", source="OMIM:300614"} ! X-linked nonsyndromic hearing loss is_a: MONDO:0021944 {source="OMIM:300614"} ! auditory neuropathy property_value: exactMatch DOID:0111741 property_value: exactMatch http://identifiers.org/mesh/C564472 property_value: exactMatch http://identifiers.org/snomedct/719838008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845095 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304400 property_value: exactMatch https://omim.org/entry/300614 property_value: exactMatch Orphanet:139583 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/551 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12731/x-linked-hereditary-sensory-and-autonomic-neuropathy-with-deafness xsd:anyURI {source="GARD:0012731"} [Term] id: MONDO:0010379 name: Brunner syndrome def: "Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood." [Orphanet:3057] subset: ordo_disease {source="Orphanet:3057"} synonym: "antisocial behavior, susceptibility to" RELATED [OMIM:300615] synonym: "antisocial behavior, X-linked recessive" EXACT [OMIM:300615, OMIM:genemap2] synonym: "BRNRS" RELATED ABBREVIATION [OMIM:300615] synonym: "Brunner syndrome" EXACT [OMIM:300615, Orphanet:3057] synonym: "Brunner syndrome, X-linked recessive" EXACT [OMIM:300615, OMIM:genemap2] synonym: "monoamine oxidase A deficiency" EXACT [DOID:0060693] xref: DOID:0060693 {source="MONDO:equivalentTo"} xref: MESH:C563156 {source="DOID:0060693", source="MONDO:equivalentTo"} xref: OMIM:300615 {source="DOID:0060693", source="Orphanet:3057", source="MONDO:equivalentTo", source="Orphanet:3057/e"} xref: Orphanet:3057 {source="DOID:0060693", source="MONDO:equivalentTo", source="OMIM:300615"} xref: SCTID:718210003 {source="MONDO:equivalentTo"} xref: UMLS:C0796275 {source="Orphanet:3057", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300615"} is_a: MONDO:0004736 {source="DOID:0060693"} ! inborn disorder of amino acid metabolism is_a: MONDO:0019219 {source="Orphanet:3057"} ! inborn disorder of neurotransmitter metabolism and transport is_a: MONDO:0020605 ! X-linked recessive disease property_value: exactMatch DOID:0060693 property_value: exactMatch http://identifiers.org/mesh/C563156 property_value: exactMatch http://identifiers.org/snomedct/718210003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796275 property_value: exactMatch https://omim.org/entry/300615 property_value: exactMatch Orphanet:3057 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010382 name: fragile X-associated tremor/ataxia syndrome def: "Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia." [Orphanet:93256] subset: ordo_malformation_syndrome {source="Orphanet:93256"} synonym: "fragile 10 tremor/ataxia syndrome" RELATED [OMIM:300623] synonym: "fragile X tremor/ataxia syndrome" RELATED [MONDO:Lexical, OMIM:300623] synonym: "Fragile X tremor/ataxia syndrome, X-linked dominant" EXACT [OMIM:300623, OMIM:genemap2] synonym: "FXTAS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300623] synonym: "FXTAS syndrome" EXACT [DOID:0050879, Orphanet:93256] xref: DOID:0050879 {source="MONDO:equivalentTo"} xref: MESH:C564105 {source="MONDO:equivalentTo"} xref: NCIT:C126566 {source="MONDO:equivalentTo"} xref: OMIM:300623 {source="Orphanet:93256", source="MONDO:equivalentTo", source="Orphanet:93256/e", source="DOID:0050879"} xref: Orphanet:93256 {source="MONDO:equivalentTo", source="OMIM:300623"} xref: SCTID:448045004 {source="MONDO:equivalentTo"} xref: UMLS:C1839780 {source="Orphanet:93256", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C126566", source="OMIM:300623"} is_a: MONDO:0002254 {source="NCIT:C126566"} ! syndromic disease is_a: MONDO:0016612 {source="DOID:0050879", source="Orphanet:93256"} ! X-linked cerebellar ataxia property_value: exactMatch DOID:0050879 property_value: exactMatch http://identifiers.org/mesh/C564105 property_value: exactMatch http://identifiers.org/snomedct/448045004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839780 property_value: exactMatch https://omim.org/entry/300623 property_value: exactMatch NCIT:C126566 property_value: exactMatch Orphanet:93256 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4883 xsd:anyURI [Term] id: MONDO:0010383 name: fragile X syndrome def: "A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities." [NCIT:P378] subset: ordo_malformation_syndrome {source="Orphanet:908"} synonym: "fra(X) syndrome" RELATED [GARD:0006464] synonym: "fragile 10 intellectual disability syndrome" RELATED [OMIM:300624] synonym: "fragile 10 mental retardation syndrome" RELATED DEPRECATED [OMIM:300624] synonym: "fragile 10 premature ovarian failure" RELATED [OMIM:300624] synonym: "fragile 10 syndrome" RELATED [OMIM:300624] synonym: "fragile X intellectual disability syndrome" EXACT [DOID:14261, OMIM:300624] synonym: "fragile X mental retardation syndrome" EXACT DEPRECATED [DOID:14261, OMIM:300624] synonym: "fragile X syndrome" EXACT [OMIM:300624] synonym: "Fragile X syndrome, X-linked dominant" EXACT [OMIM:300624, OMIM:genemap2] synonym: "FraX syndrome" EXACT [Orphanet:908] synonym: "FRAXA syndrome" EXACT [Orphanet:908] synonym: "FXS" EXACT ABBREVIATION [Orphanet:908] synonym: "intellectual disability, X-linked, associated with Marxq28" RELATED [OMIM:300624] synonym: "marker 10 syndrome" RELATED [OMIM:300624] synonym: "marker X syndrome" EXACT [DOID:14261] synonym: "Martin-Bell syndrome" EXACT [DOID:14261, OMIM:300624, Orphanet:908] synonym: "mental retardation, X-linked, associated with Marxq28" RELATED DEPRECATED [OMIM:300624] synonym: "primary ovarian insufficiency, fragile X-associated" RELATED [OMIM:300624] synonym: "X-linked intellectual disability and macroorchidism" RELATED [OMIM:300624] synonym: "X-linked mental retardation and macroorchidism" RELATED DEPRECATED [OMIM:300624] xref: DOID:14261 {source="MONDO:equivalentTo"} xref: ICD9:759.83 {source="DOID:14261", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10017324 {source="Orphanet:908/e", source="Orphanet:908"} xref: MESH:D005600 {source="Orphanet:908/e", source="DOID:14261", source="MONDO:equivalentTo", source="Orphanet:908"} xref: NCIT:C84717 {source="DOID:14261", source="MONDO:equivalentTo"} xref: OMIM:300624 {source="DOID:14261", source="MONDO:equivalentTo", source="Orphanet:908/ntbt", source="Orphanet:908"} xref: Orphanet:908 {source="MONDO:equivalentTo", source="OMIM:300624"} xref: SCTID:613003 {source="DOID:14261", source="MONDO:equivalentTo"} xref: UMLS:C0016667 {source="Orphanet:908/e", source="DOID:14261", source="MONDO:equivalentTo", source="NCIT:C84717", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:908", source="OMIM:300624"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84717"} ! syndromic disease property_value: closeMatch http://identifiers.org/meddra/10017324 property_value: exactMatch DOID:14261 property_value: exactMatch http://identifiers.org/mesh/D005600 property_value: exactMatch http://identifiers.org/snomedct/613003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016667 property_value: exactMatch https://omim.org/entry/300624 property_value: exactMatch NCIT:C84717 property_value: exactMatch Orphanet:908 property_value: excluded_subClassOf MONDO:0005027 {source="MONDO:0015652-obsoleted"} property_value: excluded_subClassOf MONDO:0015159 {source="Orphanet:908"} property_value: excluded_subClassOf MONDO:0015368 property_value: excluded_subClassOf MONDO:0016565 {source="Orphanet:908"} property_value: excluded_subClassOf MONDO:0017656 {source="Orphanet:908"} property_value: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:300624", source="Orphanet:908", source="https://clinicalgenome.org/affiliation/40060/"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1766 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4883 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6428 xsd:anyURI [Term] id: MONDO:0010386 name: immunodeficiency 33 def: "Any immunodeficiency disease in which the cause of the disease is a mutation in the IKBKG gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0009917"} subset: ordo_etiological_subtype {source="Orphanet:319612"} synonym: "atypical Mycobacteriosis, familial, X-linked 1" RELATED [OMIM:300636] synonym: "familial X-linked 1 atypical mycobacteriosis" RELATED [GARD:0012915] synonym: "IKBKG invasive pneumococcal disease, recurrent isolated" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "IMD33" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300636] synonym: "immunodeficiency 33, Mycobacteriosis, X-linked" EXACT [OMIM:300636] synonym: "immunodeficiency 33, X-linked recessive" EXACT [OMIM:300636, OMIM:genemap2] synonym: "immunodeficiency type 33" EXACT [MONDORULE:2, OMIM:300636] synonym: "immunodeficiency without anhidrotic ectodermal dysplasia" EXACT [MONDO:0010368, OMIM:300584] synonym: "immunodeficiency, isolated" RELATED [OMIM:300584] synonym: "immunodeficiency, Pure" RELATED [OMIM:300584] synonym: "invasive pneumococcal disease, recurrent isolated caused by mutation in IKBKG" EXACT [MONDO:design_pattern] synonym: "invasive pneumococcal disease, recurrent isolated, 2" EXACT [MONDO:Lexical, OMIM:300640] synonym: "invasive pneumococcal disease, recurrent isolated, type 2" EXACT [MONDORULE:1, OMIM:300640] synonym: "IPD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300640] synonym: "NEMO deficiency syndrome" RELATED [GARD:0012915] synonym: "NF-kappa B essential modulator deficiency" RELATED [GARD:0012915] xref: DOID:0112003 {source="MONDO:equivalentTo"} xref: MESH:C536289 {source="MONDO:equivalentTo"} xref: MESH:C567070 {source="MONDO:equivalentObsolete"} xref: OMIM:300584 {source="MONDO:equivalentObsolete"} xref: OMIM:300636 {source="Orphanet:319612/e", source="MONDO:equivalentTo", source="Orphanet:319612"} xref: UMLS:C1845117 {source="OMIM:300584", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C1970879 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300636"} is_a: MONDO:0003778 {source="DC-OMIM:300584", source="MESH:C536289"} ! inborn error of immunity is_a: MONDO:0100162 {source="https://orcid.org/0000-0002-7437-8060"} ! IKBKG-related immunodeficiency with or without ectodermal dysplasia property_value: exactMatch DOID:0112003 property_value: exactMatch http://identifiers.org/mesh/C536289 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845117 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970879 property_value: exactMatch https://omim.org/entry/300636 property_value: excluded_subClassOf MONDO:0017905 {source="Orphanet:319612"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5520 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5701 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9917/immunodeficiency-without-anhidrotic-ectodermal-dysplasia xsd:anyURI {source="GARD:0009917"} [Term] id: MONDO:0010387 name: obsolete invasive pneumococcal disease, recurrent isolated, 2 comment: Obsolete in OMIM. xref: OMIM:300640 {source="MONDO:obsoleteEquivalentObsolete"} property_value: exactMatch https://omim.org/entry/300640 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2339 xsd:anyURI is_obsolete: true replaced_by: MONDO:0010386 [Term] id: MONDO:0010389 name: X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency def: "Any X-linked Mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the CYBB gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_etiological_subtype {source="Orphanet:319623"} subset: predisposition synonym: "atypical Mycobacteriosis, familial, X-linked 2" RELATED [OMIM:300645] synonym: "CYBB X-linked mendelian susceptibility to mycobacterial diseases" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "IMD34" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300645] synonym: "immunodeficiency 34" RELATED [MONDO:Lexical, OMIM:300645] synonym: "immunodeficiency 34, Mycobacteriosis, X-linked" RELATED [OMIM:300645] synonym: "immunodeficiency 34, mycobacteriosis, X-linked, X-linked recessive" EXACT [OMIM:300645, OMIM:genemap2] synonym: "immunodeficiency type 34" EXACT [MONDORULE:2, OMIM:300645] synonym: "X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in CYBB" EXACT [] synonym: "X-linked MSMD due to CYBB deficiency" EXACT [Orphanet:319623] xref: DOID:0112000 {source="MONDO:equivalentTo"} xref: MESH:C567068 {source="MONDO:equivalentTo"} xref: OMIM:300645 {source="Orphanet:319623/e", source="MONDO:equivalentTo", source="Orphanet:319623"} xref: Orphanet:319623 {source="MONDO:equivalentTo", source="OMIM:300645"} xref: UMLS:C1970859 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300645"} is_a: MONDO:0017905 {source="Orphanet:319623", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked Mendelian susceptibility to mycobacterial diseases property_value: exactMatch DOID:0112000 property_value: exactMatch http://identifiers.org/mesh/C567068 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970859 property_value: exactMatch https://omim.org/entry/300645 property_value: exactMatch Orphanet:319623 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010390 name: ocular albinism with late-onset sensorineural deafness def: "Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism or a contiguous gene syndrome." [Orphanet:1000] subset: ordo_disease {source="Orphanet:1000"} synonym: "albinism ocular late onset sensorineural deafness" RELATED [GARD:0000592] synonym: "albinism, ocular, with late-onset sensorineural deafness" RELATED [MONDO:Lexical, OMIM:300650] synonym: "deafness and ocular albinism" RELATED [OMIM:300650] synonym: "OASD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300650] synonym: "ocular albinism with sensorineural deafness" RELATED [OMIM:300650] xref: OMIM:300650 {source="Orphanet:1000", source="MONDO:equivalentTo", source="Orphanet:1000/e"} xref: Orphanet:1000 {source="OMIM:300650", source="MONDO:equivalentTo"} xref: SCTID:722054007 {source="MONDO:equivalentTo"} xref: UMLS:C1845069 {source="Orphanet:1000", source="OMIM:300650", source="MONDO:equivalentTo", source="Orphanet:1000/e", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0017304 {source="Orphanet:1000"} ! ocular albinism property_value: exactMatch http://identifiers.org/snomedct/722054007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845069 property_value: exactMatch https://omim.org/entry/300650 property_value: exactMatch Orphanet:1000 [Term] id: MONDO:0010392 name: glycogen storage disease due to phosphoglycerate kinase 1 deficiency def: "Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities." [Orphanet:713] subset: ordo_disease {source="Orphanet:713"} synonym: "glycogen storage disease caused by mutation in PGK1" EXACT [MONDO:design_pattern] synonym: "glycogen storage disease due to phosphoglycerate kinase 1 deficiency" EXACT [] synonym: "glycogenosis due to phosphoglycerate kinase 1 deficiency" EXACT [Orphanet:713] synonym: "GSD due to phosphoglycerate kinase 1 deficiency" EXACT [Orphanet:713] synonym: "PGK deficiency" RELATED [GARD:0007389] synonym: "Pgk1 deficiency" RELATED [OMIM:300653] synonym: "PGK1 glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "PHOSPHOGLYCERATE KINASE 1 deficiency" RELATED [OMIM:300653] synonym: "phosphoglycerate kinase 1 deficiency, X-linked recessive" EXACT [OMIM:300653, OMIM:genemap2] synonym: "Phosphoglycerate kinase deficiency" RELATED [GARD:0007389] xref: DOID:0111933 {source="MONDO:equivalentTo"} xref: MESH:C567067 {source="MONDO:equivalentTo"} xref: NCIT:C126738 {source="MONDO:equivalentTo"} xref: OMIM:300653 {source="Orphanet:713", source="MONDO:equivalentTo", source="Orphanet:713/e"} xref: Orphanet:713 {source="MONDO:equivalentTo", source="OMIM:300653"} xref: UMLS:C1970848 {source="Orphanet:713", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300653", source="NCIT:C126738"} is_a: MONDO:0002412 {source="MONDO:Redundant", source="Orphanet:713"} ! disorder of glycogen metabolism is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis property_value: exactMatch DOID:0111933 property_value: exactMatch http://identifiers.org/mesh/C567067 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970848 property_value: exactMatch https://omim.org/entry/300653 property_value: exactMatch NCIT:C126738 property_value: exactMatch Orphanet:713 property_value: excluded_subClassOf MONDO:0016118 {source="Orphanet:713"} property_value: excluded_subClassOf MONDO:0020585 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0010393 name: intellectual disability, X-linked 93 def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the BRWD3 gene." [MONDO:patterns/disease_series_by_gene] synonym: "BRWD3 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "intellectual developmental disorder, X-linked 93, X-linked recessive" EXACT [OMIM:300659, OMIM:genemap2] synonym: "intellectual disability, X-linked 93" EXACT [MONDO:Lexical, OMIM:300659] synonym: "intellectual disability, X-linked type 93" EXACT [MONDORULE:2, OMIM:300659] synonym: "intellectual disability, X-linked, with macrocephaly" RELATED [OMIM:300659] synonym: "mental retardation, X-linked 93" RELATED DEPRECATED [MONDO:Lexical, OMIM:300659] synonym: "mental retardation, X-linked type 93" EXACT DEPRECATED [MONDORULE:2, OMIM:300659] synonym: "mental retardation, X-linked, with macrocephaly" RELATED DEPRECATED [OMIM:300659] synonym: "MRX93" RELATED DEPRECATED [MONDO:Lexical, OMIM:300659] synonym: "non-syndromic X-linked intellectual disability caused by mutation in BRWD3" EXACT [MONDO:design_pattern] xref: DOID:0112045 {source="MONDO:equivalentTo"} xref: MESH:C567066 {source="MONDO:equivalentTo"} xref: OMIM:300659 {source="MONDO:equivalentTo"} xref: UMLS:C1970841 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300659"} is_a: MONDO:0019181 {source="DC-OMIM:300659", source="MONDO:Redundant", source="OMIM:300659"} ! non-syndromic X-linked intellectual disability property_value: exactMatch DOID:0112045 property_value: exactMatch http://identifiers.org/mesh/C567066 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970841 property_value: exactMatch https://omim.org/entry/300659 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010395 name: phosphoribosylpyrophosphate synthetase superactivity def: "Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity)." [Orphanet:3222] subset: ordo_disease {source="Orphanet:3222"} synonym: "gout, PRPS-related" RELATED [OMIM:300661] synonym: "gout, PRPS-related, X-linked recessive" EXACT [OMIM:300661, OMIM:genemap2] synonym: "phosphoribosylpyrophosphate synthetase superactivity" EXACT [OMIM:300661] synonym: "phosphoribosylpyrophosphate synthetase superactivity, X-linked recessive" EXACT [OMIM:300661, OMIM:genemap2] synonym: "PRPP synthetase superactivity" EXACT [Orphanet:3222] synonym: "PRPS1 superactivity" EXACT [OMIM:300661, Orphanet:3222] xref: DOID:0111260 {source="MONDO:equivalentTo"} xref: MESH:C567064 {source="MONDO:equivalentTo"} xref: OMIM:300661 {source="Orphanet:3222", source="MONDO:equivalentTo", source="Orphanet:3222/e"} xref: Orphanet:3222 {source="OMIM:300661", source="MONDO:equivalentTo"} xref: SCTID:723454008 {source="MONDO:equivalentTo"} xref: UMLS:C1970827 {source="Orphanet:3222", source="OMIM:300661", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019236 {source="Orphanet:3222"} ! inborn disorder of purine metabolism property_value: exactMatch DOID:0111260 property_value: exactMatch http://identifiers.org/mesh/C567064 property_value: exactMatch http://identifiers.org/snomedct/723454008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970827 property_value: exactMatch https://omim.org/entry/300661 property_value: exactMatch Orphanet:3222 property_value: excluded_subClassOf MONDO:0019743 {source="Orphanet:3222"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010397 name: severe neonatal-onset encephalopathy with microcephaly def: "An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy." [NCIT:C132293] subset: ordo_disease {source="Orphanet:209370"} synonym: "encephalopathy, neonatal severe, due to MECP2 mutations" RELATED [OMIM:300673] synonym: "encephalopathy, neonatal severe, X-linked recessive" EXACT [OMIM:300673, OMIM:genemap2] synonym: "severe congenital encephalopathy due to MECP2 mutation" EXACT [Orphanet:209370] synonym: "severe neonatal encephalopathy due to MECP2 mutations" EXACT [NCIT:C132293] xref: DOID:0111932 {source="MONDO:equivalentTo"} xref: MESH:C566878 {source="MONDO:equivalentTo"} xref: NCIT:C132293 {source="MONDO:equivalentTo"} xref: OMIM:300673 {source="Orphanet:209370", source="MONDO:equivalentTo", source="Orphanet:209370/e"} xref: Orphanet:209370 {source="MONDO:equivalentTo", source="OMIM:300673"} xref: UMLS:C1968556 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300673"} is_a: MONDO:0015653 {source="Orphanet:209370"} ! monogenic epilepsy is_a: MONDO:0020070 {source="Orphanet:209370"} ! neonatal epilepsy syndrome is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy property_value: exactMatch DOID:0111932 property_value: exactMatch http://identifiers.org/mesh/C566878 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1968556 property_value: exactMatch https://omim.org/entry/300673 property_value: exactMatch NCIT:C132293 property_value: exactMatch Orphanet:209370 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5671 xsd:anyURI [Term] id: MONDO:0010399 name: chromosome Xp21 deletion syndrome subset: ordo_disease {source="Orphanet:261476"} synonym: "chromosome Xp21 deletion syndrome" EXACT [OMIM:300679] synonym: "Complex Glycerol kinase deficiency" RELATED [OMIM:300679] synonym: "complex glycerol kinase deficiency" EXACT [DOID:0060427] synonym: "Del(X)(p21)" EXACT [Orphanet:261476] synonym: "Glycerol kinase deficiency-contiguous gene syndrome" EXACT [Orphanet:261476] synonym: "monosomy Xp21" EXACT [DOID:0060427] synonym: "Xp21 contiguous gene deletion syndrome" EXACT [Orphanet:261476] synonym: "Xp21 microdeletion syndrome" EXACT [DOID:0060427, Orphanet:261476] xref: DOID:0060427 {source="MONDO:equivalentTo"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:300679 {source="MONDO:equivalentTo", source="Orphanet:261476", source="DOID:0060427", source="Orphanet:261476/e"} xref: Orphanet:261476 {source="MONDO:equivalentTo", source="DOID:0060427", source="OMIM:300679"} xref: SCTID:297257004 {source="MONDO:equivalentTo"} xref: UMLS:C0795887 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300679"} is_a: MONDO:0010613 {source="Orphanet:261476"} ! inborn glycerol kinase deficiency is_a: MONDO:0017004 {source="Orphanet:261476"} ! partial monosomy of the short arm of chromosome X property_value: exactMatch DOID:0060427 property_value: exactMatch http://identifiers.org/snomedct/297257004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795887 property_value: exactMatch https://omim.org/entry/300679 property_value: exactMatch Orphanet:261476 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0010401 name: X-linked myopathy with postural muscle atrophy def: "X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present." [Orphanet:178461] subset: ordo_disease {source="Orphanet:178461"} synonym: "Ehlers-Danlos syndrome, classic-like, 1" RELATED [OMIM:300696, OMIM:genemap2] synonym: "Emery-Dreifuss muscular dystrophy 6, X-linked" RELATED [OMIM:300696] synonym: "myopathy, X-linked, with postural muscle atrophy" RELATED [MONDO:Lexical, OMIM:300696] synonym: "myopathy, X-linked, with postural muscle atrophy, X-linked recessive" EXACT [OMIM:300696, OMIM:genemap2] synonym: "X-linked myopathy with postural muscle atrophy" EXACT [] synonym: "XMPMA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300696, Orphanet:178461] xref: DOID:0070251 {source="MONDO:equivalentTo"} xref: OMIM:300696 {source="Orphanet:178461/e", source="MONDO:equivalentTo", source="Orphanet:178461"} xref: Orphanet:178461 {source="MONDO:equivalentTo", source="OMIM:300696"} xref: UMLS:C2678055 {source="MONDO:equivalentTo", source="OMIM:300696", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:178461"} is_a: MONDO:0016830 {source="DC-OMIM:300696", source="OMIM:300696"} ! Emery-Dreifuss muscular dystrophy property_value: exactMatch DOID:0070251 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678055 property_value: exactMatch https://omim.org/entry/300696 property_value: exactMatch Orphanet:178461 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010403 name: albinism-hearing loss syndrome def: "A syndromic genetic hearing loss is characterized by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1." [Orphanet:998] comment: Editor note: check whether precisely identicial to Woolf syndrome subset: gard_rare {source="GARD:0000589"} subset: ordo_malformation_syndrome {source="Orphanet:998"} synonym: "ADFN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300700] synonym: "albinism deafness syndrome" NARROW [GARD:0000589] synonym: "albinism-deafness syndrome" NARROW [MONDO:Lexical, OMIM:300700, OMIM:genemap2] synonym: "ALDS" RELATED ABBREVIATION [OMIM:300700] synonym: "Woolf syndrome" RELATED [Wikipedia:Albinism-deafness_syndrome] synonym: "Woolf's syndrome" EXACT [Wikipedia:Albinism-deafness_syndrome] synonym: "Ziprkowski–Margolis syndrome" EXACT [Wikipedia:Albinism-deafness_syndrome] xref: MESH:C537042 {source="Orphanet:998", source="MONDO:equivalentTo", source="Orphanet:998/e"} xref: OMIM:300700 {source="Orphanet:998", source="MONDO:equivalentTo", source="Orphanet:998/e"} xref: Orphanet:998 {source="MONDO:equivalentTo", source="OMIM:300700"} xref: SCTID:722285005 {source="MONDO:equivalentTo"} xref: SCTID:74320008 {source="MONDO:equivalentTo"} is_a: MONDO:0019290 {source="MESH:C537042/inferred", source="Orphanet:998"} ! hypopigmentation of the skin is_a: MONDO:0043209 {source="MESH:C537042", source="MONDO:cjm"} ! albinism is_a: MONDO:0100118 ! hereditary skin disorder property_value: exactMatch http://identifiers.org/mesh/C537042 property_value: exactMatch http://identifiers.org/snomedct/722285005 property_value: exactMatch http://identifiers.org/snomedct/74320008 property_value: exactMatch https://omim.org/entry/300700 property_value: exactMatch Orphanet:998 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/551 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/589/albinism-deafness-syndrome xsd:anyURI {source="GARD:0000589"} [Term] id: MONDO:0010404 name: X-linked non progressive cerebellar ataxia def: "X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems." [Orphanet:314978] subset: ordo_disease {source="Orphanet:314978"} synonym: "SCAX5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300703, Orphanet:314978] synonym: "spinocerebellar ataxia, X-linked 5" RELATED [MONDO:Lexical, OMIM:300703] synonym: "spinocerebellar ataxia, X-linked 5, X-linked recessive" EXACT [OMIM:300703, OMIM:genemap2] synonym: "X-linked spinocerebellar ataxia type 5" EXACT [Orphanet:314978] xref: DOID:0111833 {source="MONDO:equivalentTo"} xref: MESH:C567478 {source="MONDO:equivalentTo"} xref: OMIM:300703 {source="MONDO:equivalentTo", source="Orphanet:314978", source="Orphanet:314978/e"} xref: Orphanet:314978 {source="MONDO:equivalentTo", source="OMIM:300703"} xref: SCTID:766818009 {source="MONDO:equivalentTo"} xref: UMLS:C2678048 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300703"} is_a: MONDO:0016612 {source="Orphanet:314978"} ! X-linked cerebellar ataxia property_value: exactMatch DOID:0111833 property_value: exactMatch http://identifiers.org/mesh/C567478 property_value: exactMatch http://identifiers.org/snomedct/766818009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678048 property_value: exactMatch https://omim.org/entry/300703 property_value: exactMatch Orphanet:314978 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010407 name: intellectual disability, X-linked syndromic, Turner type def: "An X-linked syndromic intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant." [Orphanet:85328] subset: gard_rare {source="GARD:0005610"} subset: ordo_disease {source="Orphanet:3056"} subset: ordo_malformation_syndrome {source="Orphanet:85328"} synonym: "Brooks Wisniewski Brown syndrome" EXACT [GARD:0005610] synonym: "Brooks-Wisniewski-Brown Syndrome" EXACT [OMIM:309590] synonym: "Brooks-Wisniewski-Brown syndrome" EXACT [MONDO:0010376, OMIM:300612] synonym: "intellectual disability, X-linked syndromic, Turner type" EXACT [] synonym: "Juberg-Marsidi Syndrome" RELATED [OMIM:309590] synonym: "mental retardation and macrocephaly syndrome" EXACT DEPRECATED [DOID:0060811, OMIM:300706, OMIM:309590] synonym: "mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown Type" RELATED DEPRECATED [OMIM:309590] synonym: "mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown type" RELATED DEPRECATED [OMIM:300612] synonym: "mental retardation, X-linked, syndromic, Turner type" EXACT DEPRECATED [DOID:0060811, MONDO:Lexical, OMIM:300706, OMIM:309590] synonym: "mental retardation, X-Linked, with growth retardation, deafness, and microgenitalism" RELATED DEPRECATED [OMIM:309590] synonym: "MRXST" EXACT ABBREVIATION [DOID:0060811, MONDO:Lexical, OMIM:300706] synonym: "syndromic X-linked intellectual disability Turner type" EXACT [OMIM:309590] synonym: "X-linked intellectual disability, Brooks type" EXACT [DOID:0060829] synonym: "X-linked intellectual disability, Turner type" EXACT [Orphanet:85328] synonym: "X-linked mental retardation Brooks type" RELATED DEPRECATED [GARD:0005610] xref: DOID:0060811 {source="MONDO:equivalentTo"} xref: DOID:0060829 {source="MONDO:equivalentObsolete"} xref: MESH:C563154 {source="MONDO:equivalentTo"} xref: MESH:C567476 {source="MONDO:equivalentTo"} xref: OMIM:300612 {source="DOID:0060829", source="Orphanet:3056", source="MONDO:equivalentObsolete", source="Orphanet:3056/e"} xref: OMIM:300706 {source="MONDO:equivalentObsolete", source="DOID:0060811", source="Orphanet:85328", source="Orphanet:85328/e"} xref: OMIM:309590 {source="Orphanet:3056", source="MONDO:equivalentTo"} xref: Orphanet:3056 {source="DOID:0060829", source="MONDO:equivalentObsolete", source="OMIM:300612"} xref: Orphanet:85328 {source="OMIM:300706", source="MONDO:equivalentObsolete", source="OMIM:309590", source="DOID:0060811"} xref: SCTID:725912001 {source="MONDO:equivalentTo"} xref: UMLS:C0796272 {source="MONDO:equivalentTo", source="OMIM:309590", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300612"} xref: UMLS:C2678046 {source="OMIM:300706", source="MONDO:equivalentTo", source="OMIM:309590", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:85328"} is_a: MONDO:0020119 {source="DC-OMIM:300706", source="DOID:0060811", source="DOID:0060829", source="OMIM:300612", source="OMIM:300706", source="OMIM:309590", source="Orphanet:3056", source="Orphanet:85328", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch DOID:0060811 property_value: exactMatch http://identifiers.org/mesh/C563154 property_value: exactMatch http://identifiers.org/mesh/C567476 property_value: exactMatch http://identifiers.org/snomedct/725912001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796272 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678046 property_value: exactMatch https://omim.org/entry/309590 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010408 name: syndactyly-telecanthus-anogenital and renal malformations syndrome def: "This syndrome is characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." [Orphanet:140952] subset: ordo_malformation_syndrome {source="Orphanet:140952"} synonym: "STAR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300707] synonym: "STAR syndrome" EXACT [Orphanet:140952] synonym: "Star syndrome" RELATED [OMIM:300707] synonym: "STAR syndrome, X-linked dominant" EXACT [OMIM:300707, OMIM:genemap2] synonym: "syndactyly with renal and anogenital malformations" RELATED [OMIM:300707] synonym: "syndactyly, telecanthus, anogenital and renal malformations" RELATED [GARD:0010295] synonym: "syndactyly-telecanthus-anogenital and renal malformations syndrome" EXACT [] synonym: "toe syndactyly, telecanthus, and anogenital and renal malformations" RELATED [MONDO:Lexical, OMIM:300707] synonym: "toe syndactyly, telecanthus, anogenital and renal malformations" RELATED [GARD:0010295] xref: DOID:0111931 {source="MONDO:equivalentTo"} xref: MESH:C567475 {source="MONDO:equivalentTo"} xref: OMIM:300707 {source="Orphanet:140952/e", source="MONDO:equivalentTo", source="Orphanet:140952"} xref: Orphanet:140952 {source="OMIM:300707", source="MONDO:equivalentTo"} xref: SCTID:723581006 {source="MONDO:equivalentTo"} xref: UMLS:C2678045 {source="OMIM:300707", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:140952"} is_a: MONDO:0015161 {source="Orphanet:140952"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015246 {source="Orphanet:140952"} ! syndromic anorectal malformation is_a: MONDO:0019054 ! congenital limb malformation is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism property_value: exactMatch DOID:0111931 property_value: exactMatch http://identifiers.org/mesh/C567475 property_value: exactMatch http://identifiers.org/snomedct/723581006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678045 property_value: exactMatch https://omim.org/entry/300707 property_value: exactMatch Orphanet:140952 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0010409 name: syndromic X-linked intellectual disability Shrimpton type def: "X-linked intellectual disability, Shrimpton type is characterized by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localized to the q12-Xq21.31 region of the X-chromosome." [Orphanet:85324] subset: ordo_malformation_syndrome {source="Orphanet:85324"} synonym: "intellectual disability, X-linked, syndromic 9" EXACT [DOID:0060813, MONDO:Lexical, OMIM:300709] synonym: "mental retardation, X-linked, syndromic 9" EXACT DEPRECATED [DOID:0060813, MONDO:Lexical, OMIM:300709] synonym: "MRXS9" EXACT ABBREVIATION [DOID:0060813, MONDO:Lexical, OMIM:300709, Orphanet:85324] synonym: "X-linked intellectual disability, Shrimpton type" RELATED [Orphanet:85324] xref: DOID:0060813 {source="MONDO:equivalentTo"} xref: MESH:C567474 {source="MONDO:equivalentTo"} xref: OMIM:300709 {source="Orphanet:85324", source="MONDO:equivalentTo", source="DOID:0060813", source="Orphanet:85324/e"} xref: Orphanet:85324 {source="OMIM:300709", source="MONDO:equivalentTo", source="DOID:0060813"} xref: UMLS:C2678039 {source="OMIM:300709", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0020119 {source="DC-OMIM:300709", source="DOID:0060813", source="OMIM:300709", source="Orphanet:85324", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch DOID:0060813 property_value: exactMatch http://identifiers.org/mesh/C567474 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678039 property_value: exactMatch https://omim.org/entry/300709 property_value: exactMatch Orphanet:85324 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010412 name: X-linked intellectual disability-craniofacioskeletal syndrome def: "X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported." [Orphanet:163979] subset: ordo_disease {source="Orphanet:163979"} synonym: "craniofacioskeletal syndrome" RELATED [OMIM:300712] synonym: "craniofacioskeletal syndrome, X-linked recessive, X-linked dominant" EXACT [OMIM:300712, OMIM:genemap2] xref: MESH:C567471 {source="MONDO:equivalentTo"} xref: OMIM:300712 {source="Orphanet:163979/e", source="MONDO:equivalentTo", source="Orphanet:163979"} xref: Orphanet:163979 {source="MONDO:equivalentTo", source="OMIM:300712"} xref: UMLS:C2678036 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300712"} is_a: MONDO:0020119 {source="Orphanet:163979", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch http://identifiers.org/mesh/C567471 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678036 property_value: exactMatch https://omim.org/entry/300712 property_value: exactMatch Orphanet:163979 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010417 name: syndromic X-linked intellectual disability Najm type def: "Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development." [Orphanet:163937] subset: ordo_disease {source="Orphanet:163937"} synonym: "intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, X-linked dominant" EXACT [OMIM:300749, OMIM:genemap2] synonym: "intellectual disability and microcephaly with PONTINE and cerebellar hypoplasia" RELATED [MONDO:Lexical, OMIM:300749] synonym: "intellectual disability and microcephaly with pontine and cerebellar hypoplasia" EXACT [DOID:0060807, GARD:0012669] synonym: "intellectual disability, X-linked, syndromic, Najm type" RELATED [OMIM:300749] synonym: "mental retardation and microcephaly with PONTINE and cerebellar hypoplasia" RELATED DEPRECATED [MONDO:Lexical, OMIM:300749] synonym: "mental retardation and microcephaly with pontine and cerebellar hypoplasia" EXACT DEPRECATED [DOID:0060807] synonym: "mental retardation, X-linked, syndromic, Najm type" RELATED DEPRECATED [OMIM:300749] synonym: "MICPCH" EXACT ABBREVIATION [DOID:0060807, MONDO:Lexical, OMIM:300749, Orphanet:163937] synonym: "Micpch syndrome" RELATED [OMIM:300749] synonym: "microcephaly with pontine and cerebellar hypoplasia" RELATED [GARD:0012669] synonym: "syndromic X-linked intellectual disability Najm type" EXACT [] synonym: "X-linked intellectual disability - microcephaly - pontocerebellar hypoplasia" RELATED [GARD:0012669] synonym: "X-linked intellectual disability, Najm type" RELATED [Orphanet:163937] synonym: "X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome" EXACT [DOID:0060807, Orphanet:163937] xref: DOID:0060807 {source="MONDO:equivalentTo"} xref: MESH:C567466 {source="MONDO:equivalentTo"} xref: OMIM:300749 {source="Orphanet:163937", source="DOID:0060807", source="MONDO:equivalentTo", source="Orphanet:163937/e"} xref: Orphanet:163937 {source="DOID:0060807", source="OMIM:300749", source="MONDO:equivalentTo"} xref: UMLS:C2677903 {source="Orphanet:163937", source="OMIM:300749", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0020022 ! central nervous system malformation is_a: MONDO:0020119 {source="DC-OMIM:300749", source="DOID:0060807", source="OMIM:300749", source="Orphanet:163937", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation property_value: exactMatch DOID:0060807 property_value: exactMatch http://identifiers.org/mesh/C567466 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677903 property_value: exactMatch https://omim.org/entry/300749 property_value: exactMatch Orphanet:163937 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010418 name: hereditary spastic paraplegia 34 def: "X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients." [Orphanet:171607] subset: ordo_disease {source="Orphanet:171607"} synonym: "hereditary spastic paraplegia type 34" EXACT [DOID:0110785, MONDORULE:2] synonym: "spastic paraplegia 34, X-linked" RELATED [MONDO:Lexical, OMIM:300750] synonym: "spastic paraplegia 34, X-linked, X-linked recessive" EXACT [OMIM:300750, OMIM:genemap2] synonym: "SPG34" EXACT ABBREVIATION [DOID:0110785, MONDO:Lexical, OMIM:300750, Orphanet:171607] synonym: "X-linked spastic paraplegia 34" EXACT [DOID:0110785] synonym: "X-linked spastic paraplegia type 34" EXACT [DOID:0110785] xref: DOID:0110785 {source="MONDO:equivalentTo"} xref: MESH:C567465 {source="MONDO:equivalentTo"} xref: OMIM:300750 {source="Orphanet:171607", source="MONDO:equivalentTo", source="Orphanet:171607/e", source="DOID:0110785"} xref: Orphanet:171607 {source="MONDO:equivalentTo", source="OMIM:300750", source="DOID:0110785"} xref: SCTID:763370008 {source="MONDO:equivalentTo"} xref: UMLS:C2677897 {source="Orphanet:171607", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300750", source="Orphanet:171607/e"} is_a: MONDO:0017912 {source="Orphanet:171607"} ! X-linked pure spastic paraplegia property_value: exactMatch DOID:0110785 property_value: exactMatch http://identifiers.org/mesh/C567465 property_value: exactMatch http://identifiers.org/snomedct/763370008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677897 property_value: exactMatch https://omim.org/entry/300750 property_value: exactMatch Orphanet:171607 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010421 name: Bruton-type agammaglobulinemia def: "X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, and is characterized in affected males by recurrent bacterial infections during infancy." [Orphanet:47] subset: ordo_clinical_subtype {source="Orphanet:47"} synonym: "agammaglobulinemia, Bruton tyrosine kinase" RELATED [GARD:0001033] synonym: "agammaglobulinemia, BTK" RELATED [GARD:0001033] synonym: "agammaglobulinemia, X-linked" RELATED [MONDO:Lexical, OMIM:300755] synonym: "agammaglobulinemia, X-linked 1, X-linked recessive" EXACT [OMIM:300755, OMIM:genemap2] synonym: "agammaglobulinemia, X-linked, type 1" RELATED [OMIM:300755] synonym: "Bruton agammaglobulinemia tyrosine kinase deficiency" EXACT [DOID:14179] synonym: "Bruton type agammaglobulinemia" EXACT [Orphanet:47] synonym: "Bruton's agammaglobulinaemia" EXACT [DOID:14179] synonym: "Bruton's agammaglobulinemia" RELATED [GARD:0001033] synonym: "Bruton's Sex-linked agammaglobulinemia" EXACT [DOID:14179, NCIT:C3822] synonym: "Bruton's type agammaglobulinemia" EXACT [DOID:14179] synonym: "Bruton's X-linked agammaglobulinemia" EXACT [NCIT:C3822] synonym: "Bruton-type agammaglobulinemia" EXACT [OMIM:300755] synonym: "BTK deficiency" EXACT [DOID:14179] synonym: "BTK-deficiency" EXACT [Orphanet:47] synonym: "hypogammaglobulinemia, X-linked" RELATED [OMIM:300755] synonym: "immunodeficiency 1" RELATED [OMIM:300755] synonym: "X-linked agammaglobulinemia" EXACT [NCIT:C3822] synonym: "XLA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300755] xref: DOID:14179 {source="MONDO:equivalentTo"} xref: MedDRA:10060360 {source="Orphanet:47", source="Orphanet:47/e"} xref: MESH:C537409 {source="Orphanet:47", source="MONDO:equivalentTo", source="DOID:14179", source="Orphanet:47/e"} xref: NCIT:C3822 {source="MONDO:equivalentTo", source="DOID:14179"} xref: OMIM:300755 {source="Orphanet:47", source="MONDO:equivalentTo", source="DOID:14179", source="Orphanet:47/e"} xref: Orphanet:47 {source="MONDO:equivalentTo", source="DOID:14179", source="OMIM:300755"} xref: SCTID:65880007 {source="MONDO:equivalentTo", source="DOID:14179"} xref: UMLS:C0221026 {source="Orphanet:47", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:14179", source="OMIM:300755", source="Orphanet:47/e", source="NCIT:C3822"} is_a: MONDO:0016462 {source="Orphanet:47"} ! isolated agammaglobulinemia property_value: closeMatch http://identifiers.org/meddra/10060360 property_value: exactMatch DOID:14179 property_value: exactMatch http://identifiers.org/mesh/C537409 property_value: exactMatch http://identifiers.org/snomedct/65880007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221026 property_value: exactMatch https://omim.org/entry/300755 property_value: exactMatch NCIT:C3822 property_value: exactMatch Orphanet:47 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010425 name: Lisch epithelial corneal dystrophy def: "Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision." [Orphanet:98955] subset: ordo_disease {source="Orphanet:98955"} synonym: "band-shaped and whorled microcystic" EXACT [DOID:0060450] synonym: "band-Shaped and whorled microcystic corneal epithelial dystrophy" RELATED [OMIM:300778] synonym: "band-shaped and whorled microcystic dystrophy of the corneal epithelium" EXACT [Orphanet:98955] synonym: "corneal dystrophy, Lisch epithelial" RELATED [MONDO:Lexical, OMIM:300778] synonym: "corneal dystrophy, Lisch epithelial, X-linked dominant" EXACT [OMIM:300778, OMIM:genemap2] synonym: "LECD" EXACT ABBREVIATION [DOID:0060450, MONDO:Lexical, OMIM:300778, Orphanet:98955] synonym: "Lisch epithelial corneal dystrophy" EXACT [OMIM:300778] xref: DOID:0060450 {source="MONDO:equivalentTo"} xref: MESH:C567588 {source="DOID:0060450", source="MONDO:equivalentTo"} xref: OMIM:300778 {source="DOID:0060450", source="MONDO:equivalentTo", source="Orphanet:98955", source="Orphanet:98955/e"} xref: Orphanet:98955 {source="DOID:0060450", source="MONDO:equivalentTo", source="OMIM:300778"} xref: SCTID:724175002 {source="MONDO:equivalentTo"} xref: UMLS:C2749050 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:98955", source="OMIM:300778"} is_a: MONDO:0000763 {source="DOID:0060450"} ! epithelial and subepithelial corneal dystrophy is_a: MONDO:0020212 {source="Orphanet:98955"} ! superficial corneal dystrophy property_value: exactMatch DOID:0060450 property_value: exactMatch http://identifiers.org/mesh/C567588 property_value: exactMatch http://identifiers.org/snomedct/724175002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2749050 property_value: exactMatch https://omim.org/entry/300778 property_value: exactMatch Orphanet:98955 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010426 name: X-linked endothelial corneal dystrophy def: "X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients." [Orphanet:293621] subset: ordo_disease {source="Orphanet:293621"} synonym: "corneal dystrophy, endothelial, X-linked" RELATED [MONDO:Lexical, OMIM:300779] synonym: "corneal dystrophy, endothelial, X-linked, X-linked dominant" EXACT [OMIM:300779, OMIM:genemap2] synonym: "endothelial corneal dystrophy, X-linked" RELATED [OMIM:300779] synonym: "XECD" EXACT ABBREVIATION [DOID:0060446, MONDO:Lexical, OMIM:300779, Orphanet:293621] xref: DOID:0060446 {source="MONDO:equivalentTo"} xref: MESH:C567587 {source="DOID:0060446", source="MONDO:equivalentTo"} xref: OMIM:300779 {source="Orphanet:293621/e", source="DOID:0060446", source="MONDO:equivalentTo", source="Orphanet:293621"} xref: Orphanet:293621 {source="DOID:0060446", source="MONDO:equivalentTo", source="OMIM:300779"} xref: SCTID:718579008 {source="MONDO:equivalentTo"} xref: UMLS:C2749049 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:293621", source="OMIM:300779"} is_a: MONDO:0000766 {source="DOID:0060446"} ! corneal endothelial dystrophy is_a: MONDO:0020214 {source="Orphanet:293621"} ! posterior corneal dystrophy property_value: exactMatch DOID:0060446 property_value: exactMatch http://identifiers.org/mesh/C567587 property_value: exactMatch http://identifiers.org/snomedct/718579008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2749049 property_value: exactMatch https://omim.org/entry/300779 property_value: exactMatch Orphanet:293621 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010427 name: syndromic X-linked intellectual disability Raymond type def: "A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has material basis in mutation in the ZDHHC9 gene on chromosome Xq26.1." [DOID:0060824, PMID:17436253, PMID:19377476] synonym: "intellectual disability, X-linked syndromic, Raymond type" EXACT [DOID:0060824] synonym: "intellectual disability, X-linked, syndromic, Raymond type" RELATED [MONDO:Lexical, OMIM:300799] synonym: "mental retardation, X-linked syndromic, Raymond type" EXACT DEPRECATED [DOID:0060824] synonym: "mental retardation, X-linked, syndromic, Raymond type" RELATED DEPRECATED [MONDO:Lexical, OMIM:300799] synonym: "MRXSR" EXACT ABBREVIATION [DOID:0060824, MONDO:Lexical, OMIM:300799] synonym: "syndromic X-linked intellectual disability Raymond type" EXACT [] xref: DOID:0060824 {source="MONDO:equivalentTo"} xref: OMIM:300799 {source="MONDO:equivalentTo", source="DOID:0060824"} xref: UMLS:C3275406 {source="MONDO:equivalentTo", source="OMIM:300799"} is_a: MONDO:0020119 {source="DC-OMIM:300799", source="DOID:0060824", source="OMIM:300799", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch DOID:0060824 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3275406 property_value: exactMatch https://omim.org/entry/300799 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010428 name: chromosome Xp11.23-p11.22 duplication syndrome def: "A form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." [Orphanet:217377] subset: ordo_malformation_syndrome {source="Orphanet:217377"} synonym: "chromosome Xp11.23-p11.22 duplication syndrome" EXACT [OMIM:300801] synonym: "chromosome xp11.23-p11.22 duplication syndrome, X-linked dominant" EXACT [OMIM:300801, OMIM:genemap2] synonym: "microduplication Xp11.22-p11.23 syndrome" EXACT [DOID:0060461] synonym: "trisomy Xp11.22-p11.23" EXACT [DOID:0060461, Orphanet:217377] synonym: "Xp11.22-p11.23 Microduplication" EXACT [DECIPHER:89] xref: DECIPHER:89 {source="MONDO:equivalentTo"} xref: DOID:0060461 {source="MONDO:equivalentTo"} xref: MESH:C567585 {source="MONDO:equivalentTo"} xref: OMIM:300801 {source="DOID:0060461", source="Orphanet:217377/e", source="MONDO:equivalentTo", source="Orphanet:217377"} xref: Orphanet:217377 {source="DOID:0060461", source="MONDO:equivalentTo", source="OMIM:300801"} xref: SCTID:721881008 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:217377"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0017009 {source="Orphanet:217377"} ! partial duplication of the short arm of chromosome X property_value: exactMatch DOID:0060461 property_value: exactMatch http://identifiers.org/mesh/C567585 property_value: exactMatch http://identifiers.org/snomedct/721881008 property_value: exactMatch https://omim.org/entry/300801 property_value: exactMatch Orphanet:217377 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:217377"} property_value: excluded_subClassOf MONDO:0005027 {source="MONDO:0015652-obsoleted"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010432 name: thrombophilia, X-linked, due to factor 9 defect def: "A hemostatic disorder characterized by a tendency to thrombosis that has X-linked recessive inheritance, and can be caused by a gain-of-function mutation in the gene encoding factor IX (F9)." [https://orcid.org/0000-0003-4062-6158, OMIM:300807] synonym: "deep Venous thrombosis, protection against" RELATED [OMIM:300807] synonym: "deep venous thrombosis, protection against, X-linked recessive" EXACT [OMIM:300807, OMIM:genemap2] synonym: "THPH8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300807] synonym: "thrombophilia 8, X-linked, due to factor IX defect, X-linked recessive" EXACT [OMIM:300807, OMIM:genemap2] synonym: "thrombophilia, X-linked, due to factor 9 defect" EXACT [] synonym: "thrombophilia, X-linked, due to factor IX defect" EXACT [https://orcid.org/0000-0003-4062-6158, MONDO:Lexical, OMIM:300807] xref: DOID:0111899 {source="MONDO:equivalentTo"} xref: MESH:C567581 {source="MONDO:equivalentTo"} xref: OMIM:300807 {source="MONDO:equivalentTo"} xref: UMLS:C2749016 {source="OMIM:300807", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0100240 {source="DC-OMIM:300807", source="MESH:C567581", source="OMIM:300807"} ! inherited thrombophilia property_value: exactMatch DOID:0111899 property_value: exactMatch http://identifiers.org/mesh/C567581 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2749016 property_value: exactMatch https://omim.org/entry/300807 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010435 name: nystagmus 6, congenital, X-linked synonym: "NYS6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300814] synonym: "NYSTAGMUS 6, congenital, X-linked" RELATED [OMIM:300814] synonym: "nystagmus 6, congenital, X-linked" EXACT [MONDO:Lexical, OMIM:300814] synonym: "nystagmus 6, congenital, X-linked, X-linked recessive" EXACT [OMIM:300814, OMIM:genemap2] xref: DOID:0111795 {source="MONDO:equivalentTo"} xref: OMIM:300814 {source="MONDO:equivalentTo"} xref: UMLS:C3151752 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300814"} is_a: EFO:0007217 {source="DC-OMIM:300814", source="OMIM:300814"} ! congenital nystagmus property_value: exactMatch DOID:0111795 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151752 property_value: exactMatch https://omim.org/entry/300814 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010436 name: chromosome Xq28 duplication syndrome synonym: "chromosome Xq28 duplication syndrome" EXACT [OMIM:300815] xref: MESH:C567580 {source="MONDO:equivalentTo"} xref: OMIM:300815 {source="MONDO:equivalentTo"} xref: UMLS:C2749007 {source="OMIM:300815", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0010283 {source="Orphanet:1762/btnt"} ! syndromic X-linked intellectual disability Lubs type property_value: exactMatch http://identifiers.org/mesh/C567580 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2749007 property_value: exactMatch https://omim.org/entry/300815 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI [Term] id: MONDO:0010437 name: severe X-linked mitochondrial encephalomyopathy def: "Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date." [Orphanet:238329] subset: ordo_disease {source="Orphanet:238329"} synonym: "combined oxidative phosphorylation deficiency 6" RELATED [MONDO:Lexical, OMIM:300816] synonym: "combined oxidative phosphorylation deficiency 6, X-linked recessive" EXACT [OMIM:300816, OMIM:genemap2] synonym: "combined oxidative phosphorylation deficiency type 6" EXACT [MONDORULE:1, OMIM:300816] synonym: "COXPD6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300816] synonym: "encephalomyopathy, mitochondrial, X-linked" RELATED [OMIM:300816] synonym: "mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6" EXACT [Orphanet:238329] synonym: "mitochondrial encephalomyopathy due to COXPD6" EXACT [Orphanet:238329] xref: DOID:0111502 {source="MONDO:equivalentTo"} xref: OMIM:300816 {source="Orphanet:238329", source="MONDO:equivalentTo", source="Orphanet:238329/e"} xref: Orphanet:238329 {source="OMIM:300816", source="MONDO:equivalentTo"} xref: SCTID:722212004 {source="MONDO:equivalentTo"} xref: UMLS:C3151753 {source="OMIM:300816", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4302745 {source="MONDO:equivalentTo"} is_a: MONDO:0000732 {source="DC-OMIM:300816", source="OMIM:300816"} ! combined oxidative phosphorylation deficiency property_value: exactMatch DOID:0111502 property_value: exactMatch http://identifiers.org/snomedct/722212004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151753 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4302745 property_value: exactMatch https://omim.org/entry/300816 property_value: exactMatch Orphanet:238329 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010438 name: paroxysmal nocturnal hemoglobinuria 1 def: "Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGA gene." [MONDO:patterns/disease_series_by_gene] synonym: "paroxysmal nocturnal hemoglobinuria 1" EXACT [MONDO:Lexical, OMIM:300818] synonym: "paroxysmal nocturnal hemoglobinuria caused by mutation in PIGA" EXACT [] synonym: "paroxysmal nocturnal hemoglobinuria caused by mutation in pIgA" EXACT [MONDO:design_pattern] synonym: "paroxysmal nocturnal hemoglobinuria type 1" EXACT [MONDORULE:1, OMIM:300818] synonym: "paroxysmal nocturnal hemoglobinuria, somatic" EXACT [OMIM:300818, OMIM:genemap2] synonym: "PIGA paroxysmal nocturnal hemoglobinuria" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "pIgA paroxysmal nocturnal hemoglobinuria" EXACT [MONDO:design_pattern] synonym: "PNH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300818] xref: OMIM:300818 {source="MONDO:equivalentTo"} xref: UMLS:C3806670 {source="OMIM:300818", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0100244 {source="DC-OMIM:300818", source="MONDO:Redundant", source="OMIM:300818"} ! paroxysmal nocturnal hemoglobinuria property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3806670 property_value: exactMatch https://omim.org/entry/300818 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010441 name: CK syndrome subset: ordo_malformation_syndrome {source="Orphanet:251383"} synonym: "CK syndrome" EXACT [OMIM:300831] synonym: "CK syndrome, X-linked recessive" EXACT [OMIM:300831, OMIM:genemap2] synonym: "intellectual disability, X-linked, with thin body habitus and cortical malformation" RELATED [OMIM:300831] synonym: "mental retardation, X-linked, with thin body habitus and cortical malformation" RELATED DEPRECATED [OMIM:300831] synonym: "X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome" EXACT [Orphanet:251383] xref: DOID:0111898 {source="MONDO:equivalentTo"} xref: OMIM:300831 {source="Orphanet:251383", source="MONDO:equivalentTo", source="Orphanet:251383/e"} xref: Orphanet:251383 {source="MONDO:equivalentTo", source="OMIM:300831"} xref: UMLS:C3151781 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300831"} is_a: MONDO:0000508 {source="Orphanet:251383", source="Orphanet:251383/inferred", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:251383", source="Orphanet:251383/inferred"} ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960", source="MONDO:0015983"} ! rare property_value: exactMatch DOID:0111898 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151781 property_value: exactMatch https://omim.org/entry/300831 property_value: exactMatch Orphanet:251383 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010444 name: X-linked dyserythropoetic anemia with abnormal platelets and neutropenia subset: ordo_disease {source="Orphanet:363727"} synonym: "anemia, X-linked, with or without neutropenia and/or platelet abnormalities" RELATED [MONDO:Lexical, OMIM:300835] synonym: "anemia, X-linked, with/without neutropenia and/or platelet abnormalities, X-linked recessive" EXACT [OMIM:300835, OMIM:genemap2] synonym: "XLANP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300835] xref: DOID:0112156 {source="MONDO:equivalentTo"} xref: OMIM:300835 {source="Orphanet:363727/e", source="MONDO:equivalentTo", source="Orphanet:363727"} xref: Orphanet:363727 {source="MONDO:equivalentTo", source="OMIM:300835"} is_a: MONDO:0016361 {source="Orphanet:363727"} ! isolated hereditary giant platelet disorder is_a: MONDO:0019403 {source="Orphanet:363727"} ! congenital dyserythropoietic anemia is_a: MONDO:0100089 {source="https://github.com/monarch-initiative/mondo/issues/1018"} ! GATA1-Related X-Linked Cytopenia property_value: exactMatch DOID:0112156 property_value: exactMatch https://omim.org/entry/300835 property_value: exactMatch Orphanet:363727 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010446 name: X-linked cone dysfunction syndrome with myopia def: "X-linked cone dysfunction syndrome with myopia is characterized by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28." [Orphanet:90001] subset: ordo_disease {source="Orphanet:90001"} synonym: "bed" RELATED [MONDO:Lexical, OMIM:300843] synonym: "BORNHOLM eye disease" RELATED [MONDO:Lexical, OMIM:300843] synonym: "Bornholm eye disease" EXACT [Orphanet:90001] synonym: "Bornholm eye disease, X-linked recessive" EXACT [OMIM:300843, OMIM:genemap2] synonym: "myopia, high, with nonprogressive cone dysfunction" RELATED [OMIM:300843] xref: MESH:C564092 {source="MONDO:equivalentTo"} xref: OMIM:300843 {source="MONDO:equivalentTo", source="Orphanet:90001", source="Orphanet:90001/e"} xref: Orphanet:90001 {source="MONDO:equivalentTo", source="OMIM:300843"} xref: SCTID:718718009 {source="MONDO:equivalentTo"} xref: UMLS:C3159311 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:90001", source="OMIM:300843"} is_a: EFO:0003966 {source="https://orcid.org/0000-0001-5208-3432"} ! eye disease property_value: exactMatch http://identifiers.org/mesh/C564092 property_value: exactMatch http://identifiers.org/snomedct/718718009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3159311 property_value: exactMatch https://omim.org/entry/300843 property_value: exactMatch Orphanet:90001 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010448 name: moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome def: "Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism." [Orphanet:280679] subset: ordo_disease {source="Orphanet:280679"} synonym: "chromosome Xq28 deletion syndrome, 3.4-Kb" RELATED [OMIM:300845] synonym: "Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism" RELATED [MONDO:Lexical, OMIM:300845] synonym: "moyamoya disease 4, X-linked recessive" EXACT [OMIM:300845, OMIM:genemap2] synonym: "Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism" EXACT [Orphanet:280679] synonym: "MYMY4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300845] synonym: "syndromic Moyamoya disease" RELATED [OMIM:300845] xref: OMIM:300845 {source="Orphanet:280679", source="MONDO:equivalentTo", source="Orphanet:280679/e"} xref: Orphanet:280679 {source="MONDO:equivalentTo", source="OMIM:300845"} xref: UMLS:C3151857 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300845"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015160 {source="Orphanet:280679"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0016820 {source="DC-OMIM:300845", source="OMIM:300845"} ! Moyamoya disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151857 property_value: exactMatch https://omim.org/entry/300845 property_value: exactMatch Orphanet:280679 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010455 name: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia def: "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyzes show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias." [Orphanet:317476] subset: ordo_disease {source="Orphanet:317476"} synonym: "Cid due to MAGT1 deficiency" EXACT [Orphanet:317476] synonym: "combined immunodeficiency due to MAGT1 deficiency" EXACT [Orphanet:317476] synonym: "immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked recessive" EXACT [OMIM:300853, OMIM:genemap2] synonym: "immunodeficiency, X-linked, with magnesium defect, Epstein-Barr VIRUS infection, and neoplasia" RELATED [MONDO:Lexical, OMIM:300853] synonym: "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia" EXACT [] synonym: "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia" RELATED [DOID:0080319] synonym: "X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia" RELATED [GARD:0010907] synonym: "XMEN" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300853, Orphanet:317476] xref: DOID:0080319 {source="MONDO:equivalentTo"} xref: NCIT:C126336 {source="MONDO:equivalentTo"} xref: OMIM:300853 {source="Orphanet:317476/e", source="MONDO:equivalentTo", source="Orphanet:317476"} xref: Orphanet:317476 {source="MONDO:equivalentTo", source="OMIM:300853"} xref: SCTID:711481001 {source="MONDO:equivalentTo"} xref: UMLS:C3275445 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300853"} is_a: MONDO:0015131 {source="https://orcid.org/0000-0001-5208-3432"} ! combined immunodeficiency property_value: exactMatch DOID:0080319 property_value: exactMatch http://identifiers.org/snomedct/711481001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3275445 property_value: exactMatch https://omim.org/entry/300853 property_value: exactMatch NCIT:C126336 property_value: exactMatch Orphanet:317476 property_value: excluded_subClassOf MONDO:0018814 {source="Orphanet:317476"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010457 name: Ogden syndrome def: "Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat." [Orphanet:276432] comment: Editor note: check GARD subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:276432"} synonym: "Acetyl-CoA:arylamine n-acetyltransferase" RELATED [GARD:0000188] synonym: "arylamine n-acetyltransferase 1" RELATED [GARD:0000188] synonym: "N acetyltransferase 1 deficiency" RELATED [GARD:0000188] synonym: "N acetyltransferase deficiency" RELATED [GARD:0000188] synonym: "N-alpha-acetyltransferase" EXACT [DOID:0050781] synonym: "N-terminal acetyltransferase deficiency" EXACT [DOID:0050781, OMIM:300855] synonym: "NAT1 deficiency" RELATED [GARD:0000188] synonym: "Ogden syndrome" EXACT [MONDO:Lexical, OMIM:300855, Orphanet:276432] synonym: "Ogden syndrome, X-linked recessive, X-linked dominant" EXACT [OMIM:300855, OMIM:genemap2] synonym: "OGDNS" EXACT ABBREVIATION [DOID:0050781, MONDO:Lexical, OMIM:300855] synonym: "premature ageing appearance-developmental delay-cardiac arrhythmia syndrome" EXACT OMO:0003005 [] synonym: "premature aging appearance-developmental delay-cardiac arrhythmia syndrome" EXACT [Orphanet:276432] synonym: "X-linked malformation and infantile lethality syndrome" EXACT [DOID:0050781] xref: DOID:0050781 {source="MONDO:equivalentTo"} xref: HGNC:7645 {source="GARD:0000188"} xref: MESH:C536107 {source="MONDO:equivalentTo"} xref: NCIT:C188215 {source="MONDO:equivalentTo"} xref: OMIM:300855 {source="DOID:0050781", source="Orphanet:276432", source="MONDO:equivalentTo", source="Orphanet:276432/e"} xref: Orphanet:276432 {source="MONDO:equivalentTo", source="OMIM:300855"} xref: UMLS:C3275447 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300855"} is_a: MONDO:0015333 {source="Orphanet:276432", source="https://orcid.org/0000-0001-5208-3432"} ! progeroid syndrome is_a: MONDO:0100124 {source="https://clinicalgenome.org/affiliation/40006/"} ! NAA10-related syndrome property_value: exactMatch DOID:0050781 property_value: exactMatch http://identifiers.org/mesh/C536107 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3275447 property_value: exactMatch https://omim.org/entry/300855 property_value: exactMatch NCIT:C188215 property_value: exactMatch Orphanet:276432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1567 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010459 name: amyotrophic lateral sclerosis type 15 def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the UBQLN2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "ALS15" EXACT ABBREVIATION [DOID:0060206, MONDO:Lexical, OMIM:300857] synonym: "amyotrophic lateral sclerosis 15" EXACT [DOID:0060206, OMIM:300857] synonym: "amyotrophic lateral sclerosis 15 with or without frontotemporal dementia" RELATED [MONDO:Lexical, OMIM:300857] synonym: "amyotrophic lateral sclerosis 15, with or without frontotemporal dementia" EXACT [DOID:0060206, OMIM:300857] synonym: "amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, X-linked dominant" EXACT [OMIM:300857, OMIM:genemap2] synonym: "amyotrophic lateral sclerosis caused by mutation in UBQLN2" EXACT [MONDO:design_pattern] synonym: "amyotrophic lateral sclerosis type 15" EXACT [] synonym: "UBQLN2 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060206 {source="MONDO:equivalentTo"} xref: OMIM:300857 {source="MONDO:equivalentTo", source="DOID:0060206"} xref: UMLS:C3275459 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300857"} is_a: EFO:0001356 {source="DOID:0060206", source="MONDO:Redundant", source="OMIM:300857"} ! familial amyotrophic lateral sclerosis property_value: exactMatch DOID:0060206 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3275459 property_value: exactMatch https://omim.org/entry/300857 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010460 name: syndromic X-linked intellectual disability 17 def: "Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals." [Orphanet:289483] subset: ordo_disease {source="Orphanet:289483"} synonym: "intellectual disability, X-linked, syndromic 17" EXACT [DOID:0060803, MONDO:Lexical, OMIM:300858] synonym: "intellectual disability, X-linked, with alacrima and achalasia" RELATED [OMIM:300858] synonym: "intellectual disability-alacrima-achalasia syndrome" EXACT [DOID:0060803] synonym: "mental retardation, X-linked, syndromic 17" EXACT DEPRECATED [DOID:0060803, MONDO:Lexical, OMIM:300858] synonym: "mental retardation, X-linked, syndromic 17, X-linked recessive" EXACT [OMIM:300858, OMIM:genemap2] synonym: "mental retardation, X-linked, with alacrima and achalasia" RELATED DEPRECATED [OMIM:300858] synonym: "MRXS17" RELATED DEPRECATED [MONDO:Lexical, OMIM:300858] synonym: "syndromic X-linked intellectual disability type 17" EXACT [DOID:0060803, MONDORULE:2] synonym: "X-linked intellectual disability with alacrima and achalasia" EXACT [DOID:0060803] synonym: "X-linked mental retardation with alacrima and achalasia" EXACT DEPRECATED [DOID:0060803] xref: DOID:0060803 {source="MONDO:equivalentTo"} xref: OMIM:300858 {source="Orphanet:289483/e", source="MONDO:equivalentTo", source="DOID:0060803", source="Orphanet:289483"} xref: Orphanet:289483 {source="MONDO:equivalentTo", source="DOID:0060803", source="OMIM:300858"} xref: UMLS:C3275460 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300858"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0020119 {source="DC-OMIM:300858", source="DOID:0060803", source="OMIM:300858", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability is_a: MONDO:0020194 {source="Orphanet:289483"} ! congenital alacrima property_value: exactMatch DOID:0060803 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3275460 property_value: exactMatch https://omim.org/entry/300858 property_value: exactMatch Orphanet:289483 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010461 name: syndromic X-linked intellectual disability Nascimento type def: "X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures." [Orphanet:163956] subset: ordo_disease {source="Orphanet:163956"} synonym: "intellectual developmental disorder, X-linked syndromic, Nascimento type, X-linked recessive" EXACT [OMIM:300860, OMIM:genemap2] synonym: "intellectual disability, X-linked syndromic, Nascimento-type" EXACT [DOID:0060820] synonym: "intellectual disability, X-linked, syndromic 30" RELATED [OMIM:300860] synonym: "intellectual disability, X-linked, syndromic, Nascimento type" RELATED [MONDO:Lexical, OMIM:300860] synonym: "mental retardation, X-linked syndromic, Nascimento-type" EXACT DEPRECATED [DOID:0060820] synonym: "mental retardation, X-linked, syndromic 30" RELATED DEPRECATED [OMIM:300860] synonym: "mental retardation, X-linked, syndromic, Nascimento type" RELATED DEPRECATED [MONDO:Lexical, OMIM:300860] synonym: "MRXSN" RELATED DEPRECATED [MONDO:Lexical, OMIM:300860] synonym: "syndromic X-linked intellectual disability Nascimento type" EXACT [] synonym: "X-linked intellectual disability, Nascimento type" RELATED [Orphanet:163956] synonym: "X-linked intellectual disability-nail dystrophy-seizures syndrome" EXACT [DOID:0060820, Orphanet:163956] xref: DOID:0060820 {source="MONDO:equivalentTo"} xref: OMIM:300860 {source="Orphanet:163956/e", source="DOID:0060820", source="MONDO:equivalentTo", source="Orphanet:163956"} xref: Orphanet:163956 {source="DOID:0060820", source="MONDO:equivalentTo", source="OMIM:300860"} xref: UMLS:C3275464 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300860"} is_a: MONDO:0020119 {source="DC-OMIM:300860", source="DOID:0060820", source="OMIM:300860", source="Orphanet:163956", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch DOID:0060820 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3275464 property_value: exactMatch https://omim.org/entry/300860 property_value: exactMatch Orphanet:163956 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010463 name: X-linked dominant chondrodysplasia, Chassaing-Lacombe type def: "A rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males." [Orphanet:163966] subset: ordo_disease {source="Orphanet:163966"} synonym: "chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia" RELATED [OMIM:300863] synonym: "chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, X-linked dominant" EXACT [OMIM:300863, OMIM:genemap2] synonym: "X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome" EXACT [Orphanet:163966] xref: DOID:0112106 {source="MONDO:equivalentTo"} xref: OMIM:300863 {source="Orphanet:163966/e", source="MONDO:equivalentTo", source="Orphanet:163966"} xref: Orphanet:163966 {source="MONDO:equivalentTo", source="OMIM:300863"} xref: SCTID:719837003 {source="MONDO:equivalentTo"} xref: UMLS:C3275476 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300863"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: exactMatch DOID:0112106 property_value: exactMatch http://identifiers.org/snomedct/719837003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3275476 property_value: exactMatch https://omim.org/entry/300863 property_value: exactMatch Orphanet:163966 property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:163966"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010464 name: X-linked cerebral-cerebellar-coloboma syndrome syndrome def: "A rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures." [Orphanet:163961] subset: ordo_disease {source="Orphanet:163961"} synonym: "cerebral-cerebellar-coloboma syndrome, X-linked" RELATED [OMIM:300864] synonym: "cerebral-cerebellar-coloboma syndrome, X-linked, X-linked recessive" EXACT [OMIM:300864, OMIM:genemap2] synonym: "X-linked cerebral-cerebellar-coloboma syndrome" RELATED [Orphanet:163961] synonym: "X-linked intellectual disability, Kroes type" EXACT [Orphanet:163961] xref: OMIM:300864 {source="MONDO:equivalentTo", source="Orphanet:163961", source="Orphanet:163961/e"} xref: Orphanet:163961 {source="MONDO:equivalentTo", source="OMIM:300864"} xref: UMLS:C3275487 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300864"} is_a: MONDO:0020022 ! central nervous system malformation relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3275487 property_value: exactMatch https://omim.org/entry/300864 property_value: exactMatch Orphanet:163961 property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:163961"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010466 name: multiple congenital anomalies-hypotonia-seizures syndrome 2 def: "Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene." [MONDO:design_pattern] subset: ordo_malformation_syndrome {source="Orphanet:300496"} synonym: "DEE20" EXACT ABBREVIATION [OMIM:300868] synonym: "developmental and epileptic encephalopathy 20" EXACT [OMIM:300868] synonym: "epileptic encephalopathy, early infantile, 20" EXACT [OMIM:300868] synonym: "glycosylphosphatidylinositol biosynthesis defect 4" EXACT [OMIM:300868] synonym: "GPIBD4" EXACT ABBREVIATION [OMIM:300868] synonym: "MCAHS type 2" EXACT [Orphanet:300496] synonym: "MCAHS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300868] synonym: "multiple congenital anomalies-hypotonia-seizures syndrome 2" EXACT [MONDO:Lexical, OMIM:300868] synonym: "multiple congenital anomalies-hypotonia-seizures syndrome 2, X-linked recessive" EXACT [OMIM:300868, OMIM:genemap2] synonym: "multiple congenital anomalies-hypotonia-seizures syndrome type 2" EXACT [DOID:0080139, MONDORULE:1, OMIM:300868] synonym: "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGA" EXACT [MONDO:design_pattern] synonym: "PIGA multiple congenital anomalies/dysmorphic syndrome-intellectual disability" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0080139 {source="MONDO:equivalentTo"} xref: OMIM:300868 {source="Orphanet:300496", source="MONDO:equivalentTo", source="Orphanet:300496/e", source="DOID:0080139"} xref: Orphanet:300496 {source="MONDO:equivalentTo", source="OMIM:300868"} xref: UMLS:C3275508 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300868"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0015905 ! syndromic dyslipidemia is_a: MONDO:0017748 {source="Orphanet:300496"} ! inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation is_a: MONDO:0100062 {source="DC-OMIM:300868", source="OMIM:300868"} ! developmental and epileptic encephalopathy is_a: MONDO:0100247 {source="MONDO:Redundant", source="Orphanet:300496"} ! multiple congenital anomalies-hypotonia-seizures syndrome property_value: exactMatch DOID:0080139 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3275508 property_value: exactMatch https://omim.org/entry/300868 property_value: exactMatch Orphanet:300496 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010467 name: Xq27.3q28 duplication syndrome def: "Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism." [Orphanet:261483] subset: ordo_malformation_syndrome {source="Orphanet:261483"} synonym: "chromosome Xq27.3-q28 DUPLICATION syndrome" RELATED [OMIM:300869] synonym: "chromosome xq27.3-q28 duplication syndrome, X-linked recessive" EXACT [OMIM:300869, OMIM:genemap2] synonym: "dup(X)(q27.3q28)" EXACT [Orphanet:261483] synonym: "trisomy Xq27.3-q28" EXACT [Orphanet:261483] synonym: "trisomy Xq27.3q28" EXACT [Orphanet:261483] synonym: "Xq27.3-q28 microduplication syndrome" EXACT [Orphanet:261483] xref: OMIM:300869 {source="Orphanet:261483", source="MONDO:equivalentTo", source="Orphanet:261483/e"} xref: Orphanet:261483 {source="MONDO:equivalentTo", source="OMIM:300869"} xref: UMLS:C3275521 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300869"} is_a: MONDO:0017010 {source="Orphanet:261483"} ! partial duplication of the long arm of chromosome X property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3275521 property_value: exactMatch https://omim.org/entry/300869 property_value: exactMatch Orphanet:261483 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010472 name: developmental and epileptic encephalopathy, 36 subset: ordo_disease {source="Orphanet:324422"} synonym: "ALG13-CDG" EXACT [Orphanet:324422] synonym: "CDG Is" RELATED [OMIM:300884] synonym: "CDG syndrome type Is" EXACT [Orphanet:324422] synonym: "CDG-Is" EXACT [Orphanet:324422] synonym: "CDG1S" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300884, Orphanet:324422] synonym: "congenital disorder of glycosylation type 1s" EXACT [Orphanet:324422] synonym: "congenital disorder of glycosylation type Is" EXACT [Orphanet:324422] synonym: "congenital disorder of glycosylation, type Is" RELATED [MONDO:Lexical, OMIM:300884] synonym: "DEE36" EXACT ABBREVIATION [OMIM:300884] synonym: "developmental and epileptic encephalopathy 36" EXACT [OMIM:300884, OMIM:genemap2] synonym: "EIEE36" EXACT ABBREVIATION [OMIM:300884] synonym: "epileptic encephalopathy, early infantile, 36" EXACT [OMIM:300884] xref: DOID:0080470 {source="MONDO:equivalentTo"} xref: OMIM:300884 {source="Orphanet:324422", source="Orphanet:324422/nd", source="MONDO:equivalentTo"} xref: Orphanet:324422 {source="MONDO:equivalentTo", source="OMIM:300884"} xref: SCTID:733451007 {source="MONDO:equivalentTo"} xref: UMLS:C3550904 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300884"} is_a: EFO:0005545 {source="DC-OMIM:300884"} ! congenital disorder of glycosylation type I is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0017740 {source="Orphanet:324422"} ! disorder of protein N-glycosylation is_a: MONDO:0100062 {source="OMIM:300884"} ! developmental and epileptic encephalopathy property_value: exactMatch DOID:0080470 property_value: exactMatch http://identifiers.org/snomedct/733451007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3550904 property_value: exactMatch https://omim.org/entry/300884 property_value: exactMatch Orphanet:324422 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010473 name: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome def: "A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has material basis in mutation in the CLIC2 gene on chromosome Xq28." [DOID:0060828, PMID:22814392] subset: ordo_disease {source="Orphanet:324410"} synonym: "intellectual developmental disorder, X-linked syndromic 32, X-linked recessive" EXACT [OMIM:300886, OMIM:genemap2] synonym: "intellectual disability, X-linked, syndromic 32" EXACT [DOID:0060828, MONDO:Lexical, OMIM:300886] synonym: "intellectual disability, X-linked, syndromic type 32" EXACT [MONDORULE:2, OMIM:300886] synonym: "mental retardation, X-linked, syndromic 32" EXACT DEPRECATED [DOID:0060828, MONDO:Lexical, OMIM:300886] synonym: "mental retardation, X-linked, syndromic type 32" EXACT DEPRECATED [MONDORULE:2, OMIM:300886] synonym: "MRXS32" EXACT ABBREVIATION [DOID:0060828, MONDO:Lexical, OMIM:300886] xref: DOID:0060828 {source="MONDO:equivalentTo"} xref: OMIM:300886 {source="Orphanet:324410", source="MONDO:equivalentTo", source="Orphanet:324410/e", source="DOID:0060828"} xref: Orphanet:324410 {source="MONDO:equivalentTo", source="OMIM:300886", source="DOID:0060828"} xref: UMLS:C3550913 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300886"} is_a: MONDO:0020119 {source="DC-OMIM:300886", source="DOID:0060828", source="OMIM:300886", source="Orphanet:324410", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch DOID:0060828 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3550913 property_value: exactMatch https://omim.org/entry/300886 property_value: exactMatch Orphanet:324410 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010475 name: X-linked central congenital hypothyroidism with late-onset testicular enlargement def: "An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency." [NCIT:C130989] subset: ordo_disease {source="Orphanet:329235"} synonym: "central hypothyroidism and testicular enlargement" EXACT [DOID:0111140] synonym: "CHTE" EXACT ABBREVIATION [DOID:0111140, MONDO:Lexical, OMIM:300888] synonym: "hypothyroidism Central and testicular enlargement" EXACT [NCIT:C130989] synonym: "hypothyroidism, central, and testicular enlargement" RELATED [MONDO:Lexical, OMIM:300888] synonym: "hypothyroidism, central, and testicular enlargement, X-linked recessive" EXACT [OMIM:300888, OMIM:genemap2] synonym: "IGSF1 deficiency syndrome" EXACT [Orphanet:329235] synonym: "Immunoglobulin superfamily member 1 deficiency syndrome" EXACT [NCIT:C130989] synonym: "X-linked central congenital hypothyroidism with late-onset macroorchidism" EXACT [DOID:0111140, Orphanet:329235] synonym: "X-linked central congenital hypothyroidism with late-onset testicular enlargement" EXACT [DOID:0111140] xref: DOID:0111140 {source="MONDO:equivalentTo"} xref: NCIT:C130989 {source="MONDO:equivalentTo"} xref: OMIM:300888 {source="Orphanet:329235/e", source="DOID:0111140", source="MONDO:equivalentTo", source="Orphanet:329235"} xref: Orphanet:329235 {source="DOID:0111140", source="MONDO:equivalentTo", source="OMIM:300888"} xref: UMLS:C3550963 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300888"} is_a: MONDO:0000425 {source="DOID:0111140"} ! X-linked disease is_a: MONDO:0015778 ! syndromic hypothyroidism is_a: MONDO:0016410 {source="Orphanet:329235"} ! central congenital hypothyroidism property_value: exactMatch DOID:0111140 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3550963 property_value: exactMatch https://omim.org/entry/300888 property_value: exactMatch NCIT:C130989 property_value: exactMatch Orphanet:329235 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010476 name: neurodegeneration with brain iron accumulation 5 def: "Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood." [Orphanet:329284] subset: ordo_disease {source="Orphanet:329284"} synonym: "beta-propeller protein-associated neurodegeneration" EXACT [DOID:0110739, OMIM:300894] synonym: "BPAN" EXACT ABBREVIATION [DOID:0110739, Orphanet:329284] synonym: "NBIA5" EXACT ABBREVIATION [DOID:0110739, MONDO:Lexical, OMIM:300894, Orphanet:329284] synonym: "neurodegeneration with brain iron accululation 5" RELATED [GARD:0012570] synonym: "neurodegeneration with brain iron accumulation 5" EXACT [MONDO:Lexical, OMIM:300894] synonym: "neurodegeneration with brain iron accumulation 5, X-linked dominant" EXACT [OMIM:300894, OMIM:genemap2] synonym: "neurodegeneration with brain iron accumulation caused by mutation in WDR45" EXACT [MONDO:design_pattern] synonym: "neurodegeneration with brain iron accumulation type 5" EXACT [DOID:0110739, MONDORULE:1, OMIM:300894, Orphanet:329284] synonym: "SENDA" EXACT ABBREVIATION [DOID:0110739, Orphanet:329284] synonym: "static encephalopathy of childhood with neurdegeneration in adulthood" EXACT [Orphanet:329284] synonym: "static encephalopathy Of childhood with neurodegeneration In adulthood" EXACT [DOID:0110739] synonym: "static encephalopathy of childhood with neurodegeneration in adulthood" RELATED [OMIM:300894] synonym: "WDR45 neurodegeneration with brain iron accumulation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110739 {source="MONDO:equivalentTo"} xref: NCIT:C175210 {source="MONDO:equivalentTo"} xref: OMIM:300894 {source="MONDO:equivalentTo", source="Orphanet:329284", source="DOID:0110739", source="Orphanet:329284/e"} xref: Orphanet:329284 {source="MONDO:equivalentTo", source="OMIM:300894", source="DOID:0110739"} xref: SCTID:732959007 {source="MONDO:equivalentTo"} xref: UMLS:C3550973 {source="MONDO:equivalentTo", source="OMIM:300894", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:CN168656 {source="MONDO:equivalentTo"} is_a: MONDO:0018307 {source="DC-OMIM:300894", source="DOID:0110739", source="MONDO:Redundant", source="OMIM:300894", source="Orphanet:329284"} ! neurodegeneration with brain iron accumulation property_value: exactMatch DOID:0110739 property_value: exactMatch http://identifiers.org/snomedct/732959007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3550973 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN168656 property_value: exactMatch https://omim.org/entry/300894 property_value: exactMatch NCIT:C175210 property_value: exactMatch Orphanet:329284 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010477 name: blepharophimosis - intellectual disability syndrome, MKB type def: "The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males." [https://ghr.nlm.nih.gov/condition/ohdo-syndrome-maat-kievit-brunner-type] subset: ordo_malformation_syndrome {source="Orphanet:293707"} synonym: "blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type" EXACT [OMIM:300895, Orphanet:293707] synonym: "blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type" RELATED DEPRECATED [OMIM:300895] synonym: "BMRS, Maat-Kievit-Brunner type" EXACT [Orphanet:293707] synonym: "BMRS, MKB type" EXACT [Orphanet:293707] synonym: "Ohdo syndrome, X-linked" RELATED [MONDO:Lexical, OMIM:300895] synonym: "Ohdo syndrome, X-linked, X-linked recessive" EXACT [OMIM:300895, OMIM:genemap2] synonym: "OHDOX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300895] synonym: "X-linked Ohdo syndrome" EXACT [Orphanet:293707] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:300895 {source="Orphanet:293707", source="MONDO:equivalentTo", source="Orphanet:293707/e"} xref: Orphanet:293707 {source="MONDO:equivalentTo", source="OMIM:300895"} xref: SCTID:699297004 {source="MONDO:equivalentTo"} xref: UMLS:C3698541 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300895"} is_a: MONDO:0000734 {source="DC-OMIM:300895"} ! Ohdo syndrome and variants is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0100000 ! MED12-related intellectual disability syndrome property_value: exactMatch http://identifiers.org/snomedct/699297004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3698541 property_value: exactMatch https://omim.org/entry/300895 property_value: exactMatch Orphanet:293707 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010478 name: SLC35A2-congenital disorder of glycosylation def: "SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum)." [Orphanet:356961] subset: gard_rare {source="GARD:0012403"} subset: ordo_disease {source="Orphanet:356961"} subset: ordo_inheritance_inconsistent synonym: "CDG IIm" RELATED [OMIM:300896] synonym: "CDG syndrome type IIm" EXACT [Orphanet:356961] synonym: "CDG-IIm" EXACT [Orphanet:356961] synonym: "CDG2M" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300896, Orphanet:356961] synonym: "congenital disorder of glycosylation type 2m" EXACT [Orphanet:356961] synonym: "congenital disorder of glycosylation type IIm" EXACT [Orphanet:356961] synonym: "congenital disorder of glycosylation, type IIm" RELATED [GARD:0012403, MONDO:Lexical, OMIM:300896] synonym: "congenital disorder of glycosylation, type IIm, Somatic mosaicism, X-linked dominant" EXACT [OMIM:300896, OMIM:genemap2] synonym: "EIEE22" RELATED ABBREVIATION [GARD:0012403, MONDO:Lexical] synonym: "epileptic encephalopathy, early infantile, 22" RELATED [GARD:0012403, MONDO:Lexical, OMIM:300896] synonym: "epileptic encephalopathy, early infantile, 22; EIEE22" RELATED [GARD:0012403] synonym: "SLC35A2-CDG" EXACT ABBREVIATION [Orphanet:356961] synonym: "SLC35A2-congenital disorder of glycosylation" EXACT [] xref: DOID:0070265 {source="MONDO:equivalentTo"} xref: OMIM:300896 {source="Orphanet:356961", source="MONDO:equivalentTo", source="Orphanet:356961/e"} xref: Orphanet:356961 {source="MONDO:equivalentTo", source="OMIM:300896"} xref: UMLS:C3806688 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300896"} is_a: EFO:0005546 {source="DC-OMIM:300896", source="OMIM:300896"} ! congenital disorder of glycosylation type II is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0017749 {source="Orphanet:356961"} ! disorder of multiple glycosylation property_value: exactMatch DOID:0070265 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3806688 property_value: exactMatch https://omim.org/entry/300896 property_value: exactMatch Orphanet:356961 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12403/slc35a2-cdg xsd:anyURI {source="GARD:0012403"} [Term] id: MONDO:0010479 name: Charcot-Marie-Tooth disease X-linked dominant 6 def: "X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles)." [Orphanet:352675] comment: Editor note: check CMT6X synonym, this implies it is a subtype of CMT6 subset: ordo_disease {source="Orphanet:352675"} synonym: "Charcot-Marie-Tooth disease X-linked dominant type 6" EXACT [DOID:0110207, MONDORULE:1] synonym: "Charcot-Marie-Tooth disease, X-linked dominant, 6" RELATED [MONDO:Lexical, OMIM:300905] synonym: "Charcot-Marie-Tooth disease, X-linked dominant, 6, X-linked dominant" EXACT [OMIM:300905, OMIM:genemap2] synonym: "Charcot-Marie-Tooth disease, X-linked dominant, type 6" EXACT [MONDORULE:1, OMIM:300905] synonym: "Charcot-Marie-Tooth neuropathy X-linked dominant 6" EXACT [DOID:0110207] synonym: "Charcot-Marie-Tooth neuropathy, X-linked dominant, 6" RELATED [OMIM:300905] synonym: "CMT6X" RELATED ABBREVIATION [DOID:0110207, Orphanet:352675] synonym: "CMTX6" EXACT ABBREVIATION [DOID:0110207, MONDO:Lexical, OMIM:300905, Orphanet:352675] synonym: "X-linked Charcot-Marie-Tooth disease type 6" EXACT [DOID:0110207] xref: DOID:0110207 {source="MONDO:equivalentTo"} xref: OMIM:300905 {source="DOID:0110207", source="MONDO:equivalentTo", source="Orphanet:352675", source="Orphanet:352675/e"} xref: Orphanet:352675 {source="OMIM:300905", source="DOID:0110207", source="MONDO:equivalentTo"} xref: SCTID:763347000 {source="MONDO:equivalentTo"} xref: UMLS:C3806702 {source="OMIM:300905", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018994 {source="DOID:0110207", source="Orphanet:352675"} ! Charcot-Marie-Tooth disease type X property_value: exactMatch DOID:0110207 property_value: exactMatch http://identifiers.org/snomedct/763347000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3806702 property_value: exactMatch https://omim.org/entry/300905 property_value: exactMatch Orphanet:352675 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010482 name: X-linked parkinsonism-spasticity syndrome def: "X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign." [Orphanet:363654] subset: ordo_disease {source="Orphanet:363654"} synonym: "PARKINSONISM with spasticity, X-linked" RELATED [MONDO:Lexical, OMIM:300911] synonym: "Parkinsonism with spasticity, X-linked, X-linked recessive" EXACT [OMIM:300911, OMIM:genemap2] synonym: "XPDS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300911, Orphanet:363654] xref: DOID:0112105 {source="MONDO:equivalentTo"} xref: OMIM:300911 {source="MONDO:equivalentTo", source="Orphanet:363654", source="Orphanet:363654/e"} xref: Orphanet:363654 {source="MONDO:equivalentTo", source="OMIM:300911"} xref: UMLS:C3806722 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300911"} is_a: MONDO:0021095 {source="MONDO:0017661-obsoleted"} ! parkinsonian disorder is_a: MONDO:0100146 {source="https://clinicalgenome.org/affiliation/40006/"} ! ATP6AP2-related disorder property_value: exactMatch DOID:0112105 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3806722 property_value: exactMatch https://omim.org/entry/300911 property_value: exactMatch Orphanet:363654 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010483 name: X-linked intellectual disability, Cantagrel type def: "X-linked Mental retardation Cantagrel type is characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism." [Orphanet:85277] subset: ordo_malformation_syndrome {source="Orphanet:85277"} synonym: "intellectual developmental disorder, X-linked 98, X-linked dominant" EXACT [OMIM:300912, OMIM:genemap2] synonym: "intellectual disability, X-linked 98" RELATED [MONDO:Lexical, OMIM:300912] synonym: "intellectual disability, X-linked type 98" EXACT [MONDORULE:2, OMIM:300912] synonym: "mental retardation, X-linked 98" RELATED DEPRECATED [MONDO:Lexical, OMIM:300912] synonym: "mental retardation, X-linked type 98" EXACT DEPRECATED [MONDORULE:2, OMIM:300912] synonym: "MRX98" RELATED DEPRECATED [MONDO:Lexical, OMIM:300912] xref: DOID:0112044 {source="MONDO:equivalentTo"} xref: OMIM:300912 {source="Orphanet:85277", source="MONDO:equivalentTo", source="Orphanet:85277/e"} xref: Orphanet:85277 {source="MONDO:equivalentTo", source="OMIM:300912"} xref: SCTID:719016007 {source="MONDO:equivalentTo"} xref: UMLS:C3806730 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300912"} is_a: MONDO:0020119 {source="Orphanet:85277", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch DOID:0112044 property_value: exactMatch http://identifiers.org/snomedct/719016007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3806730 property_value: exactMatch https://omim.org/entry/300912 property_value: exactMatch Orphanet:85277 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010490 name: SSR4-congenital disorder of glycosylation def: "A form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4(Xq28)." [Orphanet:370927] subset: ordo_disease {source="Orphanet:370927"} synonym: "carbohydrate deficient glycoprotein syndrome type Iy" EXACT [Orphanet:370927] synonym: "CDG 1Y" RELATED [OMIM:300934] synonym: "CDG Iy" RELATED [GARD:0012405] synonym: "CDG syndrome type Iy" EXACT [Orphanet:370927] synonym: "CDG-Iy" EXACT [Orphanet:370927] synonym: "CDG1Y" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300934, Orphanet:370927] synonym: "CDGIy" RELATED [GARD:0012405] synonym: "congenital disorder of glycosylation type 1y" EXACT [Orphanet:370927] synonym: "congenital disorder of glycosylation type Iy" EXACT [Orphanet:370927] synonym: "congenital disorder of glycosylation, type Iy" RELATED [MONDO:Lexical, OMIM:300934] synonym: "congenital disorder of glycosylation, type Iy, X-linked recessive" EXACT [OMIM:300934, OMIM:genemap2] synonym: "SSR4-CDG" EXACT ABBREVIATION [Orphanet:370927] synonym: "SSR4-congenital disorder of glycosylation" EXACT [] xref: DOID:0080574 {source="MONDO:equivalentTo"} xref: OMIM:300934 {source="Orphanet:370927", source="MONDO:equivalentTo", source="Orphanet:370927/e"} xref: Orphanet:370927 {source="MONDO:equivalentTo", source="OMIM:300934"} xref: SCTID:733115009 {source="MONDO:equivalentTo"} xref: UMLS:C4012395 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0005545 {source="DC-OMIM:300934"} ! congenital disorder of glycosylation type I is_a: MONDO:0015159 {source="Orphanet:370927"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0017740 {source="Orphanet:370927"} ! disorder of protein N-glycosylation property_value: exactMatch DOID:0080574 property_value: exactMatch http://identifiers.org/snomedct/733115009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4012395 property_value: exactMatch https://omim.org/entry/300934 property_value: exactMatch Orphanet:370927 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010498 name: MEND syndrome subset: ordo_malformation_syndrome {source="Orphanet:401973"} synonym: "Male EBP disorder with neurologic defects" RELATED [OMIM:300960] synonym: "Male EBP disorder with neurological defects" EXACT [Orphanet:401973] synonym: "MEND" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300960] synonym: "MEND syndrome" EXACT [MONDO:Lexical, OMIM:300960] synonym: "MEND syndrome, X-linked recessive" EXACT [OMIM:300960, OMIM:genemap2] xref: DOID:0111865 {source="MONDO:equivalentTo"} xref: OMIM:300960 {source="Orphanet:401973", source="MONDO:equivalentTo", source="Orphanet:401973/e"} xref: Orphanet:401973 {source="MONDO:equivalentTo", source="OMIM:300960"} xref: UMLS:C4085243 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019240 {source="Orphanet:401973"} ! sterol biosynthesis disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: exactMatch DOID:0111865 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4085243 property_value: exactMatch https://omim.org/entry/300960 property_value: exactMatch Orphanet:401973 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:401973"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010504 name: immunodeficiency 47 def: "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the ATP6AP1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "ATP6AP1 primary immunodeficiency disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "IMD47" EXACT ABBREVIATION [OMIM:300972] synonym: "immunodeficiency 47" EXACT [OMIM:300972] synonym: "immunodeficiency 47, X-linked recessive" EXACT [OMIM:300972, OMIM:genemap2] synonym: "immunodeficiency 47; IMD47" EXACT [] synonym: "immunodeficiency and hepatopathy with or without neurologic features" RELATED [OMIM:300972] synonym: "immunodeficiency type 47" EXACT [MONDORULE:2, OMIM:300972] synonym: "primary immunodeficiency disease caused by mutation in ATP6AP1" EXACT [MONDO:design_pattern] xref: DOID:0112002 {source="MONDO:equivalentTo"} xref: OMIM:300972 {source="MONDO:equivalentTo"} xref: UMLS:C4310819 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0003778 {source="DC-OMIM:300972", source="MONDO:Redundant"} ! inborn error of immunity property_value: exactMatch DOID:0112002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310819 property_value: exactMatch https://omim.org/entry/300972 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010505 name: intellectual disability-balding-patella luxation-acromicria syndrome def: "Intellectual disability-balding-patella luxation-acromicria syndrome is characterized by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males." [Orphanet:3041] subset: ordo_malformation_syndrome {source="Orphanet:3041"} synonym: "early balding, patella luxation, acromicria and hypogonadism" RELATED [GARD:0000257] synonym: "early balding, patella luxation, acromicria, and hypogonadism" RELATED [OMIM:300977] synonym: "SCHOLTE syndrome" RELATED [OMIM:300977] synonym: "Scholte syndrome" EXACT [OMIM:300977] synonym: "Scholte-Begeer-van Essen syndrome" EXACT [Orphanet:3041] synonym: "SHLTS" EXACT ABBREVIATION [OMIM:300977] xref: MESH:C536638 {source="MONDO:equivalentTo"} xref: OMIM:300977 {source="Orphanet:3041/e", source="MONDO:equivalentTo", source="Orphanet:3041"} xref: Orphanet:3041 {source="MONDO:equivalentTo"} xref: SCTID:722002002 {source="MONDO:equivalentTo"} xref: UMLS:C1866985 {source="Orphanet:3041/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3041"} is_a: MONDO:0015159 {source="Orphanet:3041"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0019695 {source="Orphanet:3041"} ! acromelic dysplasia property_value: exactMatch http://identifiers.org/mesh/C536638 property_value: exactMatch http://identifiers.org/snomedct/722002002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866985 property_value: exactMatch https://omim.org/entry/300977 property_value: exactMatch Orphanet:3041 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3041"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010512 name: intellectual disability, X-linked, syndromic, Bain type synonym: "intellectual developmental disorder, X-linked, syndromic, Bain type, X-linked dominant" EXACT [OMIM:300986, OMIM:genemap2] synonym: "intellectual disability, X-linked, syndromic, Bain type" EXACT [OMIM:300986] synonym: "mental retardation, X-linked, syndromic, Bain type" EXACT DEPRECATED [OMIM:300986] synonym: "MRXSB" EXACT ABBREVIATION [OMIM:300986] xref: OMIM:300986 {source="MONDO:equivalentTo"} xref: UMLS:C4310814 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0020119 {source="DC-OMIM:300986", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310814 property_value: exactMatch https://omim.org/entry/300986 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010518 name: Wiskott-Aldrich syndrome def: "Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." [Orphanet:906] subset: gard_rare {source="GARD:0007895"} subset: ordo_disease {source="Orphanet:906"} synonym: "Aldrich syndrome" RELATED [OMIM:301000] synonym: "eczema thrombocytopenia immunodeficiency syndrome" RELATED [GARD:0007895] synonym: "eczema-thrombocytopenia-immunodeficiency syndrome" EXACT [OMIM:301000, Orphanet:906] synonym: "Imd 2" RELATED [GARD:0007895] synonym: "immunodeficiency 2" EXACT [OMIM:301000] synonym: "WAS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:301000, Orphanet:906] synonym: "Wiskott Aldrich syndrome" EXACT [GARD:0007895] synonym: "Wiskott syndrome" EXACT [DOID:9169] synonym: "Wiskott-Aldrich syndrome" EXACT [MONDO:Lexical, OMIM:301000] synonym: "Wiskott-Aldrich syndrome 1" EXACT [OMIM:301000] synonym: "Wiskott-Aldrich syndrome, X-linked recessive" EXACT [OMIM:301000, OMIM:genemap2] xref: DOID:9169 {source="MONDO:equivalentTo"} xref: ICD10CM:D82.0 {source="Orphanet:906/e", source="Orphanet:906/specific", source="MONDO:equivalentTo", source="Orphanet:906", source="DOID:9169"} xref: ICD9:279.12 {source="DOID:9169"} xref: MedDRA:10047992 {source="Orphanet:906/e", source="Orphanet:906"} xref: MESH:D014923 {source="Orphanet:906/e", source="MONDO:equivalentTo", source="Orphanet:906", source="DOID:9169"} xref: NCIT:C3448 {source="MONDO:equivalentTo", source="DOID:9169"} xref: OMIM:301000 {source="Orphanet:906/e", source="MONDO:equivalentTo", source="Orphanet:906", source="DOID:9169"} xref: Orphanet:906 {source="OMIM:301000", source="MONDO:equivalentTo", source="OMIM:277970"} xref: SCTID:36070007 {source="MONDO:equivalentTo", source="DOID:9169"} xref: UMLS:C0043194 {source="Orphanet:906/e", source="OMIM:301000", source="MONDO:equivalentTo", source="OMIM:277970", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:906", source="NCIT:C3448", source="DOID:9169"} is_a: MONDO:0000425 {source="DOID:9169", source="MESH:D014923"} ! X-linked disease is_a: MONDO:0015131 {source="NCIT:C3448"} ! combined immunodeficiency is_a: MONDO:0015356 {source="MONDO:Redundant", source="NCIT:C3448", source="Orphanet:906/inferred"} ! hereditary neoplastic syndrome is_a: MONDO:0020118 {source="Orphanet:906"} ! dense granule disease is_a: MONDO:0021181 {source="MESH:D014923", source="MONDO:Redundant", source="MONDO:indirect"} ! inherited blood coagulation disorder property_value: closeMatch http://identifiers.org/meddra/10047992 property_value: exactMatch DOID:9169 property_value: exactMatch http://identifiers.org/mesh/D014923 property_value: exactMatch http://identifiers.org/snomedct/36070007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043194 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D82.0 property_value: exactMatch https://omim.org/entry/301000 property_value: exactMatch NCIT:C3448 property_value: exactMatch Orphanet:906 property_value: excluded_subClassOf MONDO:0005093 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7895/wiskott-aldrich-syndrome xsd:anyURI {source="GARD:0007895"} [Term] id: MONDO:0010519 name: alpha thalassemia-X-linked intellectual disability syndrome def: "X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal." [Orphanet:847] comment: Editor note: in DO this is indirectly classified as AR, which is wrong. Here we separate AT from AT-like diseases. subset: do_inheritance_inconsistent subset: gard_rare {source="GARD:0005864"} subset: ordo_disease {source="Orphanet:847"} synonym: "Alpha thalassemia intellectual disability syndrome, nondeletion type, X-linked" RELATED [GARD:0005864] synonym: "Alpha thalassemia mental retardation syndrome, nondeletion type, X-linked" RELATED DEPRECATED [GARD:0005864] synonym: "Alpha thalassemia X-linked intellectual disability syndrome" EXACT [NCIT:C118631] synonym: "Alpha thalassemia X-linked mental retardation syndrome" EXACT DEPRECATED [NCIT:C118631] synonym: "alpha thalassemia-X-linked intellectual disability syndrome" EXACT [] synonym: "Alpha thalassemia/intellectual disability syndrome X-linked" EXACT [NCIT:C118631] synonym: "Alpha thalassemia/mental retardation syndrome X-linked" EXACT DEPRECATED [NCIT:C118631] synonym: "Alpha-thalassemia X-linked intellectual disability syndrome" RELATED [GARD:0005864] synonym: "Alpha-thalassemia-X-linked intellectual disability syndrome" RELATED [Orphanet:847] synonym: "alpha-thalassemia/intellectual disability syndrome nondeletion type" EXACT [DOID:0110030] synonym: "Alpha-thalassemia/intellectual disability syndrome, Nondeletion type" RELATED [OMIM:301040] synonym: "ALPHA-thalassemia/intellectual disability syndrome, X-linked" RELATED [MONDO:Lexical, OMIM:301040] synonym: "alpha-thalassemia/mental retardation syndrome nondeletion type" EXACT DEPRECATED [DOID:0110030] synonym: "Alpha-thalassemia/mental retardation syndrome, Nondeletion type" RELATED DEPRECATED [OMIM:301040] synonym: "ALPHA-thalassemia/mental retardation syndrome, X-linked" RELATED DEPRECATED [MONDO:Lexical, OMIM:301040] synonym: "alpha-thalassemia/mental retardation syndrome, X-linked dominant" EXACT [OMIM:301040, OMIM:genemap2] synonym: "ATR, Nondeletion type" RELATED [OMIM:301040] synonym: "ATR, nondeletion type" EXACT [DOID:0110030] synonym: "ATR-X syndrome" EXACT [DOID:0110030, OMIM:301040, Orphanet:847] synonym: "ATRX" RELATED DEPRECATED [MONDO:Lexical, OMIM:301040] synonym: "ATRX syndrome" RELATED [GARD:0005864] synonym: "XLMR hypotonic face syndrome" RELATED [GARD:0005864] xref: DOID:0110030 {source="MONDO:equivalentTo"} xref: ICD10CM:D56.0 {source="MONDO:relatedTo", source="Orphanet:847", source="DOID:0110030", source="Orphanet:847/attributed", source="Orphanet:847/ntbt"} xref: MESH:C538258 {source="MONDO:equivalentTo"} xref: NCIT:C118631 {source="MONDO:equivalentTo"} xref: OMIM:301040 {source="MONDO:equivalentTo", source="Orphanet:847", source="DOID:0110030", source="Orphanet:847/e"} xref: Orphanet:847 {source="MONDO:equivalentTo", source="DOID:0110030", source="OMIM:301040"} xref: SCTID:715342005 {source="MONDO:equivalentTo"} xref: UMLS:C1845055 {source="NCIT:C118631", source="MONDO:equivalentTo", source="Orphanet:847", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:847/e", source="OMIM:301040"} is_a: MONDO:0016513 {source="Orphanet:847"} ! alpha-thalassemia-related diseases is_a: MONDO:0016980 {source="Orphanet:847"} ! ATR-X-related syndrome is_a: MONDO:0019050 ! inherited hemoglobinopathy is_a: MONDO:0957025 ! hereditary 46,XY disorder of sex development property_value: exactMatch DOID:0110030 property_value: exactMatch http://identifiers.org/mesh/C538258 property_value: exactMatch http://identifiers.org/snomedct/715342005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845055 property_value: exactMatch https://omim.org/entry/301040 property_value: exactMatch NCIT:C118631 property_value: exactMatch Orphanet:847 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5864/alpha-thalassemia-x-linked-intellectual-disability-syndrome xsd:anyURI {source="GARD:0005864"} [Term] id: MONDO:0010520 name: X-linked Alport syndrome def: "X-linked form of Alport syndrome." [MONDO:patterns/x_linked] subset: ordo_etiological_subtype {source="Orphanet:88917"} synonym: "Alport syndrome 1, X-linked, X-linked dominant" EXACT [OMIM:301050, OMIM:genemap2] synonym: "Alport syndrome, X-linked" EXACT [MONDO:Lexical, MONDO:patterns/x_linked, OMIM:301050] synonym: "ATS" RELATED ABBREVIATION [DOID:0110034, MONDO:Lexical, OMIM:301050] synonym: "congenital hereditary hematuria" RELATED [GARD:0005785] synonym: "hemorrhagic familial nephritis" RELATED [GARD:0005785] synonym: "hemorrhagic hereditary nephritis" RELATED [GARD:0005785] synonym: "nephropathy and deafness, X-linked" EXACT [DOID:0110034, OMIM:301050] synonym: "X-linked Alport syndrome" EXACT [] xref: DOID:0110034 {source="MONDO:equivalentTo"} xref: MedDRA:10001843 {source="Orphanet:88917/e", source="Orphanet:88917"} xref: OMIM:301050 {source="Orphanet:88917/e", source="MONDO:equivalentTo", source="Orphanet:88917", source="DOID:0110034"} xref: Orphanet:88917 {source="MONDO:equivalentTo", source="DOID:0110034", source="OMIM:301050"} xref: SCTID:717768004 {source="MONDO:equivalentTo"} is_a: MONDO:0000425 {source="MONDO:Redundant"} ! X-linked disease is_a: MONDO:0018965 {source="DC-OMIM:301050", source="DOID:0110034", source="MONDO:Redundant", source="Orphanet:88917"} ! Alport syndrome property_value: closeMatch http://identifiers.org/meddra/10001843 property_value: exactMatch DOID:0110034 property_value: exactMatch http://identifiers.org/snomedct/717768004 property_value: exactMatch https://omim.org/entry/301050 property_value: exactMatch Orphanet:88917 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010523 name: X-linked reticulate pigmentary disorder def: "X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature." [Orphanet:85453] subset: ordo_disease {source="Orphanet:85453"} synonym: "amyloidosis, familial cutaneous" RELATED [OMIM:301220] synonym: "familial cutaneous amyloidosis" EXACT [Orphanet:85453] synonym: "Partington disease" EXACT [Orphanet:85453] synonym: "PDR" EXACT ABBREVIATION [MONDO:Lexical, OMIM:301220, Orphanet:85453] synonym: "pigmentary disorder, reticulate, with systemic manifestations" RELATED [MONDO:Lexical, OMIM:301220] synonym: "pigmentary disorder, reticulate, with systemic manifestations, X-linked" RELATED [OMIM:301220] synonym: "pigmentary disorder, reticulate, with systemic manifestations, X-linked, X-linked recessive" EXACT [OMIM:301220, OMIM:genemap2] synonym: "X-linked cutaneous amyloidosis" EXACT [Orphanet:85453] synonym: "XLPDR" EXACT ABBREVIATION [Orphanet:85453] xref: DOID:0111834 {source="MONDO:equivalentTo"} xref: ICD10EXP:E85.0+ {source="Orphanet:85453", source="Orphanet:85453/attributed", source="Orphanet:85453/ntbt"} xref: ICD10EXP:L99.0* {source="Orphanet:85453", source="Orphanet:85453/attributed", source="Orphanet:85453/ntbt"} xref: MESH:C564461 {source="MONDO:equivalentTo"} xref: OMIM:301220 {source="Orphanet:85453", source="MONDO:equivalentTo", source="Orphanet:85453/e"} xref: Orphanet:85453 {source="OMIM:301220", source="MONDO:equivalentTo"} xref: SCTID:717224002 {source="MONDO:equivalentTo"} is_a: EFO:0000701 {source="Orphanet:85453", source="Orphanet:85453/inferred"} ! skin disease is_a: MONDO:0018782 {source="Orphanet:85453"} ! type 1 interferonopathy is_a: MONDO:0020215 {source="Orphanet:85453"} ! syndromic corneal dystrophy property_value: exactMatch DOID:0111834 property_value: exactMatch http://identifiers.org/mesh/C564461 property_value: exactMatch http://identifiers.org/snomedct/717224002 property_value: exactMatch https://omim.org/entry/301220 property_value: exactMatch Orphanet:85453 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010524 name: X-linked sideroblastic anemia with ataxia def: "A rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia." [Orphanet:2802] subset: ordo_disease {source="Orphanet:2802"} synonym: "anaemia sideroblastic and spinocerebellar ataxia" EXACT OMO:0003005 [] synonym: "anemia sideroblastic and spinocerebellar ataxia" EXACT [DOID:0050554] synonym: "anemia, Sex-linked hypochromic Siderobla" RELATED [MESH:C536358] synonym: "anemia, sideroblastic, and spinocerebellar ataxia" RELATED [MESH:C536358, MONDO:Lexical, OMIM:301310] synonym: "anemia, sideroblastic, with ataxia, X-linked recessive" EXACT [OMIM:301310, OMIM:genemap2] synonym: "ASAT" EXACT ABBREVIATION [DOID:0060064, MESH:C536358, MONDO:Lexical, OMIM:301310] synonym: "Pagon Bird Detter syndrome" RELATED [MESH:C536358] synonym: "Pagon-Bird-Detter syndrome" EXACT [Orphanet:2802] synonym: "sideroblastic anaemia with spinocerebellar ataxia" EXACT OMO:0003005 [] synonym: "sideroblastic anemia with spinocerebellar ataxia" EXACT [MESH:C536358, MONDO:0000609] synonym: "X-linked sideroblastic Anaemia and ataxia" RELATED OMO:0003005 [] synonym: "X-linked sideroblastic anaemia and ataxia" EXACT OMO:0003005 [] synonym: "X-linked sideroblastic anaemia and spinocerebellar ataxia" RELATED OMO:0003005 [] synonym: "X-linked sideroblastic anaemia with spinocerebellar ataxia" EXACT OMO:0003005 [] synonym: "X-linked sideroblastic Anemia and ataxia" RELATED [MESH:C536358] synonym: "X-linked sideroblastic anemia and ataxia" EXACT [DOID:0050554] synonym: "X-linked sideroblastic anemia and spinocerebellar ataxia" RELATED [Orphanet:2802] synonym: "X-linked sideroblastic anemia with ataxia" EXACT [Orphanet:2802] synonym: "X-linked sideroblastic anemia with spinocerebellar ataxia" EXACT [] synonym: "XLSA-A" EXACT [Orphanet:2802] synonym: "Xlsa-A" RELATED [MESH:C536358] xref: DOID:0050554 {source="MONDO:equivalentTo"} xref: DOID:0060064 {source="MONDO:equivalentObsolete"} xref: MESH:C536358 {source="MONDO:equivalentTo"} xref: OMIM:301310 {source="Orphanet:2802/e", source="DOID:0050554", source="MONDO:equivalentTo", source="Orphanet:2802"} xref: Orphanet:2802 {source="OMIM:301310", source="MONDO:equivalentTo"} xref: SCTID:719816006 {source="MONDO:equivalentTo"} xref: UMLS:C1845028 {source="Orphanet:2802/e", source="OMIM:301310", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2802"} xref: UMLS:C4304338 {source="MONDO:equivalentTo"} is_a: MONDO:0016612 {source="Orphanet:2802"} ! X-linked cerebellar ataxia is_a: MONDO:0016803 {source="Orphanet:2802"} ! unspecified inborn mitochondrial disorder is_a: MONDO:0020099 {source="Orphanet:2802"} ! inherited sideroblastic anemia property_value: exactMatch DOID:0050554 property_value: exactMatch http://identifiers.org/mesh/C536358 property_value: exactMatch http://identifiers.org/snomedct/719816006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845028 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304338 property_value: exactMatch https://omim.org/entry/301310 property_value: exactMatch Orphanet:2802 property_value: excluded_subClassOf MONDO:0020721 {source="MONDO:Redundant"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010526 name: Fabry disease def: "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." [Orphanet:324] subset: clingen subset: ordo_disease {source="Orphanet:324"} synonym: "alpha galactosidase deficiency" EXACT [DOID:14499] synonym: "Alpha-galactosidase A deficiency" EXACT [DOID:14499, Orphanet:324] synonym: "Anderson-Fabry disease" EXACT [OMIM:301500, Orphanet:324] synonym: "angiokeratoma corporis diffusum" EXACT [DOID:14499, NCIT:C27528, OMIM:301500, Orphanet:324] synonym: "angiokeratoma, diffuse" RELATED [GARD:0006400] synonym: "ceramide trihexosidase deficiency" RELATED [OMIM:301500] synonym: "deficiency of melibiase" EXACT [DOID:14499] synonym: "diffuse angiokeratoma" EXACT [Orphanet:324] synonym: "Fabry disease" EXACT [OMIM:301500] synonym: "Fabry disease, Cardiac variant" RELATED [OMIM:301500] synonym: "Fabry's disease" EXACT [DOID:14499] synonym: "Fd" EXACT [Orphanet:324] synonym: "Gla deficiency" RELATED [OMIM:301500] synonym: "hereditary dystopic lipidosis" RELATED [OMIM:301500] xref: DOID:14499 {source="MONDO:equivalentTo"} xref: MedDRA:10016016 {source="Orphanet:324", source="Orphanet:324/e"} xref: MESH:D000795 {source="Orphanet:324", source="MONDO:equivalentTo", source="Orphanet:324/e", source="DOID:14499"} xref: NCIT:C84701 {source="MONDO:equivalentTo", source="DOID:14499"} xref: OMIM:301500 {source="Orphanet:324", source="MONDO:equivalentTo", source="Orphanet:324/e", source="DOID:14499"} xref: Orphanet:324 {source="MONDO:equivalentTo", source="OMIM:301500"} xref: SCTID:16652001 {source="MONDO:equivalentTo", source="DOID:14499"} xref: UMLS:C0002986 {source="Orphanet:324", source="MONDO:equivalentTo", source="Orphanet:324/e", source="MONDO:ncbi_mim2gene_medline", source="OMIM:301500", source="DOID:14499"} is_a: MONDO:0015327 {source="Orphanet:324"} ! developmental anomaly of metabolic origin is_a: MONDO:0019255 {source="DOID:14499", source="MESH:D000795", source="MONDO:0018299-obsoleted", source="NCIT:C84701", source="Orphanet:324"} ! sphingolipidosis relationship: disease_has_feature EFO:0000589 ! metabolic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015948"} ! rare property_value: closeMatch http://identifiers.org/meddra/10016016 property_value: exactMatch DOID:14499 property_value: exactMatch http://identifiers.org/mesh/D000795 property_value: exactMatch http://identifiers.org/snomedct/16652001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002986 property_value: exactMatch https://omim.org/entry/301500 property_value: exactMatch NCIT:C84701 property_value: exactMatch Orphanet:324 property_value: excluded_subClassOf MONDO:0005328 property_value: excluded_subClassOf MONDO:0016340 property_value: excluded_subClassOf MONDO:0019293 {source="Orphanet:324"} property_value: excluded_subClassOf MONDO:0019520 {source="Orphanet:324"} property_value: excluded_subClassOf MONDO:0019743 {source="Orphanet:324"} property_value: excluded_subClassOf MONDO:0020127 {source="MONDO:0016133-obsoleted"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5682 xsd:anyURI [Term] id: MONDO:0010529 name: X-linked spinocerebellar ataxia type 3 def: "A form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait." [Orphanet:85297] subset: gard_rare {source="GARD:0009981"} subset: ordo_malformation_syndrome {source="Orphanet:85297"} synonym: "ataxia-deafness syndrome X-linked" RELATED [GARD:0009981] synonym: "ataxia-deafness syndrome, X-linked" RELATED [OMIM:301790] synonym: "SCAX3" EXACT ABBREVIATION [Orphanet:85297] synonym: "Scax3" RELATED [OMIM:301790] synonym: "spinocerebellar ataxia X-linked type 3" RELATED [GARD:0009981] synonym: "spinocerebellar ataxia, X-linked 3" RELATED [OMIM:301790] synonym: "spinocerebellar ataxia, X-linked type 3" EXACT [MONDORULE:1, OMIM:301790] synonym: "X-linked ataxia-deafness syndrome" EXACT [Orphanet:85297] xref: DOID:0111831 {source="MONDO:equivalentTo"} xref: MESH:C537315 {source="Orphanet:85297/e", source="MONDO:equivalentTo", source="Orphanet:85297"} xref: OMIM:301790 {source="Orphanet:85297/e", source="MONDO:equivalentTo", source="Orphanet:85297"} xref: Orphanet:85297 {source="OMIM:301790", source="MONDO:equivalentTo"} xref: SCTID:719817002 {source="MONDO:equivalentTo"} xref: UMLS:C1844936 {source="OMIM:301790", source="Orphanet:85297/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:85297"} is_a: MONDO:0016612 {source="Orphanet:85297"} ! X-linked cerebellar ataxia property_value: exactMatch DOID:0111831 property_value: exactMatch http://identifiers.org/mesh/C537315 property_value: exactMatch http://identifiers.org/snomedct/719817002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844936 property_value: exactMatch https://omim.org/entry/301790 property_value: exactMatch Orphanet:85297 property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:85297"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9981/spinocerebellar-ataxia-x-linked-type-3 xsd:anyURI {source="GARD:0009981"} [Term] id: MONDO:0010531 name: contractures-ectodermal dysplasia-cleft lip/palate syndrome def: "Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia." [Orphanet:1484] subset: ordo_malformation_syndrome {source="Orphanet:1484"} synonym: "arthrogryposis, ectodermal dysplasia, cleft LIP/palate, and developmental delay" RELATED [OMIM:301815] synonym: "congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment" RELATED [GARD:0001515] synonym: "contractures ectodermal dysplasia cleft lip palate" RELATED [GARD:0001515] synonym: "Ladda Zonana Ramer syndrome" RELATED [GARD:0001515] synonym: "Ladda-Zonana-Ramer syndrome" EXACT [Orphanet:1484] xref: OMIM:301815 {source="Orphanet:1484", source="MONDO:equivalentTo", source="Orphanet:1484/e"} xref: Orphanet:1484 {source="MONDO:equivalentTo", source="OMIM:301815"} xref: SCTID:720746006 {source="MONDO:equivalentTo"} is_a: MONDO:0019287 {source="Orphanet:1484"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/snomedct/720746006 property_value: exactMatch https://omim.org/entry/301815 property_value: exactMatch Orphanet:1484 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:1484"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010532 name: infantile-onset X-linked spinal muscular atrophy def: "A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure." [Orphanet:1145] subset: ordo_disease {source="Orphanet:1145"} synonym: "AMC, distal, X-linked" RELATED [OMIM:301830] synonym: "arthrogryposis multiplex congenita, distal, X-linked" RELATED [OMIM:301830] synonym: "arthrogryposis, X-linked, type 1" RELATED [OMIM:301830] synonym: "SMAX2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:301830, Orphanet:1145] synonym: "spinal muscular atrophy with arthrogryposis" EXACT [Orphanet:1145] synonym: "spinal muscular atrophy, infantile X-linked" RELATED [OMIM:301830] synonym: "spinal muscular atrophy, X-linked 2" RELATED [MONDO:Lexical, OMIM:301830] synonym: "spinal muscular atrophy, X-linked 2, infantile, X-linked recessive" EXACT [OMIM:301830, OMIM:genemap2] synonym: "spinal muscular atrophy, X-linked lethal infantile" RELATED [OMIM:301830] synonym: "spinal muscular atrophy, X-linked type 2" EXACT [MONDORULE:1, OMIM:301830] synonym: "X-linked distal arthrogryposis multiplex congenita" EXACT [Orphanet:1145] synonym: "X-linked spinal muscular atrophy type 2" EXACT [Orphanet:1145] xref: DOID:0111827 {source="MONDO:equivalentTo"} xref: MESH:C535380 {source="Orphanet:1145", source="MONDO:equivalentTo", source="Orphanet:1145/e"} xref: OMIM:301830 {source="Orphanet:1145", source="MONDO:equivalentTo", source="Orphanet:1145/e"} xref: Orphanet:1145 {source="MONDO:equivalentTo", source="OMIM:301830"} xref: SCTID:719836007 {source="MONDO:equivalentTo"} xref: UMLS:C1844934 {source="Orphanet:1145", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1145/e", source="OMIM:301830"} is_a: EFO:0008525 {source="DC-OMIM:301830"} ! spinal muscular atrophy is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015168 {source="Orphanet:1145"} ! arthrogryposis multiplex congenita is_a: MONDO:0024257 ! hereditary motor neuron disease property_value: exactMatch DOID:0111827 property_value: exactMatch http://identifiers.org/mesh/C535380 property_value: exactMatch http://identifiers.org/snomedct/719836007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844934 property_value: exactMatch https://omim.org/entry/301830 property_value: exactMatch Orphanet:1145 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010533 name: Arts syndrome def: "Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy." [Orphanet:1187] subset: clingen subset: gard_rare {source="GARD:0008756"} subset: ordo_disease {source="Orphanet:1187"} synonym: "Arts" EXACT [DOID:0050647, MONDO:Lexical, OMIM:301835] synonym: "Arts syndrome" EXACT [MONDO:Lexical, OMIM:301835, Orphanet:1187] synonym: "Arts syndrome, X-linked recessive" EXACT [OMIM:301835, OMIM:genemap2] synonym: "ataxia, fatal X-linked, with deafness and loss of vision" RELATED [OMIM:301835] synonym: "fatal X-linked ataxia with deafness and loss of vision" EXACT [DOID:0050647] synonym: "intellectual disability, X-linked, syndromic 18" RELATED [OMIM:301835] synonym: "intellectual disability, X-linked, syndromic, Arts type" RELATED [OMIM:301835] synonym: "lethal ataxia with deafness and optic atrophy" EXACT [DOID:0050647] synonym: "lethal ataxia-deafness-optic atrophy" RELATED [GARD:0008756] synonym: "mental retardation, X-linked, syndromic 18" RELATED DEPRECATED [OMIM:301835] synonym: "mental retardation, X-linked, syndromic, Arts type" RELATED DEPRECATED [OMIM:301835] synonym: "MRXS18" EXACT ABBREVIATION [DOID:0050647] synonym: "MRXSARTS" EXACT ABBREVIATION [DOID:0050647] synonym: "syndromic X-linked intellectual disability 18" EXACT [DOID:0050647] synonym: "syndromic X-linked intellectual disability Arts type" EXACT [DOID:0050647] synonym: "syndromic X-linked mental retardation 18" EXACT DEPRECATED [DOID:0050647] synonym: "syndromic X-linked mental retardation Arts type" EXACT DEPRECATED [DOID:0050647] synonym: "X-linked fatal ataxia with deafness and loss of vision" RELATED [GARD:0008756] xref: DOID:0050647 {source="MONDO:equivalentTo"} xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535388 {source="Orphanet:1187", source="MONDO:equivalentTo", source="Orphanet:1187/e", source="DOID:0050647"} xref: OMIM:301835 {source="Orphanet:1187", source="MONDO:equivalentTo", source="Orphanet:1187/e", source="DOID:0050647"} xref: Orphanet:1187 {source="MONDO:equivalentTo", source="DOID:0050647", source="OMIM:301835"} xref: SCTID:702441001 {source="MONDO:equivalentTo"} xref: UMLS:C0796028 {source="Orphanet:1187", source="MONDO:equivalentTo", source="Orphanet:1187/e", source="MONDO:ncbi_mim2gene_medline", source="DOID:0050647", source="OMIM:301835"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: exactMatch DOID:0050647 property_value: exactMatch http://identifiers.org/mesh/C535388 property_value: exactMatch http://identifiers.org/snomedct/702441001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796028 property_value: exactMatch https://omim.org/entry/301835 property_value: exactMatch Orphanet:1187 property_value: excluded_subClassOf MONDO:0016612 {source="Orphanet:1187"} property_value: excluded_subClassOf MONDO:0019236 {source="Orphanet:1187"} property_value: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:301835", source="DOID:0050647", source="OMIM:301835", source="Orphanet:1187"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8756/arts-syndrome xsd:anyURI {source="GARD:0008756"} [Term] id: MONDO:0010534 name: X-linked spinocerebellar ataxia type 4 def: "Spinocerebellar ataxia, X-linked, type 4 is characterized by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life." [Orphanet:85292] subset: gard_rare {source="GARD:0009980"} subset: ordo_disease {source="Orphanet:85292"} synonym: "ataxia-dementia syndrome X-linked" RELATED [GARD:0009980] synonym: "ataxia-dementia syndrome, X-linked" RELATED [OMIM:301840] synonym: "SCAX4" EXACT ABBREVIATION [Orphanet:85292] synonym: "Scax4" RELATED [OMIM:301840] synonym: "spinocerebellar ataxia X-linked type 4" RELATED [GARD:0009980] synonym: "spinocerebellar ataxia, X-linked 4" RELATED [OMIM:301840] synonym: "spinocerebellar ataxia, X-linked type 4" EXACT [MONDORULE:1, OMIM:301840] synonym: "X-linked ataxia-dementia syndrome" EXACT [Orphanet:85292] xref: DOID:0111832 {source="MONDO:equivalentTo"} xref: MESH:C537316 {source="Orphanet:85292/e", source="MONDO:equivalentTo", source="Orphanet:85292"} xref: OMIM:301840 {source="Orphanet:85292/e", source="MONDO:equivalentTo", source="Orphanet:85292"} xref: Orphanet:85292 {source="MONDO:equivalentTo", source="OMIM:301840"} xref: SCTID:719818007 {source="MONDO:equivalentTo"} xref: UMLS:C1844933 {source="Orphanet:85292/e", source="MONDO:equivalentTo", source="OMIM:301840", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:85292"} is_a: MONDO:0016612 {source="Orphanet:85292"} ! X-linked cerebellar ataxia property_value: exactMatch DOID:0111832 property_value: exactMatch http://identifiers.org/mesh/C537316 property_value: exactMatch http://identifiers.org/snomedct/719818007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844933 property_value: exactMatch https://omim.org/entry/301840 property_value: exactMatch Orphanet:85292 property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:85292"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9980/spinocerebellar-ataxia-x-linked-type-4 xsd:anyURI {source="GARD:0009980"} [Term] id: MONDO:0010535 name: Bazex-Dupre-Christol syndrome def: "Bazex-Dupre-Christol syndrome is a rare genodermatosis (hereditary skin disease) with a predisposition to early-onset basal cell carcinomas." [Orphanet:113] subset: ordo_disease {source="Orphanet:166113", source="Orphanet:113"} synonym: "acrokeratosis of Bazex" EXACT [Orphanet:166113] synonym: "acrokeratosis paraneoplastica" EXACT [Orphanet:166113] synonym: "acrokeratosis paraneoplastica of Bazex" EXACT [Orphanet:166113] synonym: "Bazex syndrome" EXACT [MONDO:Lexical, OMIM:301845] synonym: "Bazex syndrome, X-linked dominant" EXACT [OMIM:301845, OMIM:genemap2] synonym: "Bazex-Dupre-Christol syndrome" EXACT [OMIM:301845] synonym: "Bazex-Dupré-Christol syndrome" EXACT [Orphanet:113] synonym: "BDCS" EXACT ABBREVIATION [Orphanet:113] synonym: "BZX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:301845] synonym: "follicular atrophoderma and basal cell carcinomas" EXACT [OMIM:301845, Orphanet:113] synonym: "follicular atrophoderma-basal cell carcinoma syndrome" RELATED [GARD:0000838] synonym: "follicular atrophoderma-basocellular proliferations-hypotrichosis syndrome" RELATED [GARD:0000838] xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:301845 {source="Orphanet:113/e", source="MONDO:equivalentTo", source="Orphanet:113"} xref: Orphanet:113 {source="MONDO:equivalentTo", source="OMIM:301845"} xref: Orphanet:166113 {source="MONDO:equivalentTo"} xref: SCTID:238640007 {source="MONDO:equivalentTo"} xref: SCTID:254820002 {source="MONDO:equivalentTo"} xref: UMLS:C0406355 {source="Orphanet:166113", source="MONDO:equivalentTo"} xref: UMLS:CN200039 {source="MONDO:equivalentObsolete"} is_a: EFO:0000701 {source="MONDO:0019546-obsoleted"} ! skin disease property_value: exactMatch http://identifiers.org/snomedct/238640007 property_value: exactMatch http://identifiers.org/snomedct/254820002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406355 property_value: exactMatch https://omim.org/entry/301845 property_value: exactMatch Orphanet:113 property_value: exactMatch Orphanet:166113 property_value: excluded_subClassOf MONDO:0015950 {source="Orphanet:113"} property_value: excluded_subClassOf MONDO:0019300 {source="Orphanet:113"} property_value: excluded_subClassOf MONDO:0020175 {source="Orphanet:113"} property_value: excluded_subClassOf MONDO:0020188 {source="Orphanet:113"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010537 name: Borjeson-Forssman-Lehmann syndrome def: "A X-linked yndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." [Orphanet:127] subset: gard_rare {source="GARD:0000936"} subset: ordo_malformation_syndrome {source="Orphanet:127"} synonym: "BFLS" EXACT ABBREVIATION [DOID:0050681, MONDO:Lexical, OMIM:301900, Orphanet:127] synonym: "BORJ" EXACT ABBREVIATION [DOID:0050681] synonym: "Borjeson syndrome" EXACT [DOID:0050681, OMIM:301900] synonym: "Borjeson-FORSSMAN-Lehmann syndrome" RELATED [OMIM:301900] synonym: "Borjeson-Forssman-Lehmann syndrome" EXACT [MONDO:Lexical, OMIM:301900] synonym: "Borjeson-Forssman-Lehmann syndrome, X-linked recessive" EXACT [OMIM:301900, OMIM:genemap2] synonym: "intellectual deficiency-epilepsy-endocrine disorders syndrome" EXACT [DOID:0050681] synonym: "intellectual disability, epilepsy, and endocrine disorder" EXACT [DOID:0050681] synonym: "intellectual disability, epilepsy, and endocrine disorders" RELATED [OMIM:301900] synonym: "intellectual disability, X-linked, syndromic, Borjeson-Forssman-Lehmann type" RELATED [OMIM:301900] synonym: "intellectual disability-epilepsy-endocrine disorders syndrome" EXACT [Orphanet:127] synonym: "mental deficiency, epilepsy and endocrine disorders" RELATED [GARD:0000936] synonym: "mental retardation, epilepsy, and endocrine disorder" EXACT DEPRECATED [DOID:0050681] synonym: "mental retardation, epilepsy, and endocrine disorders" RELATED DEPRECATED [OMIM:301900] synonym: "mental retardation, X-linked, syndromic, Borjeson-Forssman-Lehmann type" RELATED DEPRECATED [OMIM:301900] synonym: "MRXSBFL" EXACT ABBREVIATION [DOID:0050681] synonym: "syndromic X-linked intellectual disability Borjeson-Forssman-Lehmann type" EXACT [DOID:0050681] synonym: "syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type" EXACT DEPRECATED [DOID:0050681] xref: DOID:0050681 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536575 {source="Orphanet:127", source="MONDO:equivalentTo", source="Orphanet:127/e", source="DOID:0050681"} xref: OMIM:301900 {source="Orphanet:127", source="MONDO:equivalentTo", source="Orphanet:127/e", source="DOID:0050681"} xref: Orphanet:127 {source="MONDO:equivalentTo", source="OMIM:301900", source="DOID:0050681"} xref: SCTID:21634003 {source="MONDO:equivalentTo", source="DOID:0050681"} xref: UMLS:C0265339 {source="Orphanet:127", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:127/e", source="OMIM:301900", source="DOID:0050681"} is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch DOID:0050681 property_value: exactMatch http://identifiers.org/mesh/C536575 property_value: exactMatch http://identifiers.org/snomedct/21634003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265339 property_value: exactMatch https://omim.org/entry/301900 property_value: exactMatch Orphanet:127 property_value: excluded_subClassOf MONDO:0015159 {source="Orphanet:127"} property_value: excluded_subClassOf MONDO:0015653 {source="Orphanet:127"} property_value: excluded_subClassOf MONDO:0016565 {source="Orphanet:127"} property_value: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:301900", source="DOID:0050681", source="OMIM:301900", source="Orphanet:127"} property_value: excluded_subClassOf MONDO:0020158 {source="MONDO:0020169-obsoleted"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/936/borjeson-forssman-lehmann-syndrome xsd:anyURI {source="GARD:0000936"} [Term] id: MONDO:0010538 name: Mononen-Karnes-Senac syndrome def: "Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested." [Orphanet:2565] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2565"} synonym: "brachydactyly Mononen type" RELATED [GARD:0004886] synonym: "brachydactyly, Mononen type" RELATED [OMIM:301940] synonym: "Mononen Karnes Senac syndrome" RELATED [GARD:0004886] synonym: "Mononen type brachydactyly" EXACT [DOID:0110973] synonym: "short and abducted thumbs and great toes" EXACT [DOID:0110973] synonym: "skeletal dysplasia brachydactyly" RELATED [GARD:0004886] synonym: "skeletal dysplasia-brachydactyly syndrome" EXACT [Orphanet:2565] synonym: "thumbs and great toes short and abducted" RELATED [GARD:0004886] synonym: "thumbs and great toes, short and abducted" RELATED [OMIM:301940] xref: DOID:0110973 {source="MONDO:equivalentTo"} xref: MESH:C535914 {source="DOID:0110973", source="Orphanet:2565", source="MONDO:equivalentTo", source="Orphanet:2565/e"} xref: OMIM:301940 {source="DOID:0110973", source="GARD:0004886", source="Orphanet:2565", source="MONDO:equivalentTo", source="Orphanet:2565/e"} xref: Orphanet:2565 {source="DOID:0110973", source="GARD:0004886", source="MONDO:equivalentTo", source="OMIM:301940"} xref: SCTID:733095006 {source="MONDO:equivalentTo"} xref: UMLS:C2931060 {source="DOID:0110973", source="Orphanet:2565", source="MONDO:equivalentTo", source="Orphanet:2565/e"} is_a: MONDO:0019054 {source="Orphanet:2565", source="Orphanet:2565/inferred"} ! congenital limb malformation property_value: exactMatch DOID:0110973 property_value: exactMatch http://identifiers.org/mesh/C535914 property_value: exactMatch http://identifiers.org/snomedct/733095006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931060 property_value: exactMatch https://omim.org/entry/301940 property_value: exactMatch Orphanet:2565 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4886/brachydactyly-mononen-type xsd:anyURI {source="GARD:0004886"} [Term] id: MONDO:0010539 name: X-linked mandibulofacial dysostosis def: "X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." [Orphanet:1131] subset: ordo_malformation_syndrome {source="Orphanet:1131"} synonym: "branchial arch syndrome X-linked" RELATED [GARD:0001002] synonym: "branchial arch syndrome, X-linked" RELATED [OMIM:301950] synonym: "mandibulofacial dysostosis Toriello type" RELATED [GARD:0001002] synonym: "mandibulofacial dysostosis, Toriello type" EXACT [OMIM:301950, Orphanet:1131] synonym: "mandibulofacial dysostosis, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "MFD Toriello type" RELATED [GARD:0001002] synonym: "X-linked branchial arch syndrome" EXACT [Orphanet:1131] synonym: "X-linked mandibulofacial dysostosis with limb anomalies" EXACT [Orphanet:1131] xref: MESH:C537102 {source="MONDO:equivalentTo"} xref: OMIM:301950 {source="Orphanet:1131", source="MONDO:equivalentTo", source="Orphanet:1131/e"} xref: Orphanet:1131 {source="MONDO:equivalentTo", source="OMIM:301950"} xref: SCTID:719813003 {source="MONDO:equivalentTo"} xref: UMLS:C1844918 {source="Orphanet:1131", source="MONDO:equivalentTo", source="OMIM:301950", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000425 ! X-linked disease is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0015483 ! mandibulofacial dysostosis is_a: MONDO:0018751 ! hereditary otorhinolaryngologic disease property_value: exactMatch http://identifiers.org/mesh/C537102 property_value: exactMatch http://identifiers.org/snomedct/719813003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844918 property_value: exactMatch https://omim.org/entry/301950 property_value: exactMatch Orphanet:1131 property_value: excluded_subClassOf MONDO:0015159 {source="Orphanet:1131"} property_value: excluded_subClassOf MONDO:0015334 {source="Orphanet:1131"} property_value: excluded_subClassOf MONDO:0015483 {source="MESH:C537102", source="MONDO:Redundant"} property_value: excluded_subClassOf MONDO:0018237 {source="Orphanet:1131"} property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:1131"} [Term] id: MONDO:0010540 name: bullous dystrophy, macular type def: "A genetic disorder characterized by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive. The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family." [Orphanet:1867] subset: gard_rare subset: ordo_disease {source="Orphanet:1867"} synonym: "bullous dystrophy hereditary macular type" RELATED [GARD:0001038] synonym: "bullous dystrophy, hereditary macular type" RELATED [OMIM:302000] synonym: "EBM" RELATED ABBREVIATION [GARD:0001038] synonym: "epidermolysis bullosa macular type" RELATED [GARD:0001038] synonym: "epidermolysis bullosa, macular type" RELATED [OMIM:302000] xref: MESH:C563065 {source="MONDO:equivalentTo"} xref: OMIM:302000 {source="Orphanet:1867/e", source="GARD:0001038", source="MONDO:equivalentTo", source="Orphanet:1867"} xref: Orphanet:1867 {source="OMIM:302000", source="GARD:0001038", source="MONDO:equivalentTo"} xref: UMLS:C0795974 {source="OMIM:302000", source="GARD:0001038", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1867"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C563065 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795974 property_value: exactMatch https://omim.org/entry/302000 property_value: exactMatch Orphanet:1867 property_value: excluded_subClassOf MONDO:0005093 {source="MONDO:0019275-obsoleted"} property_value: excluded_subClassOf MONDO:0019268 {source="MONDO:0019274-obsoleted"} property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:1867"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1038/bullous-dystrophy-hereditary-macular-type xsd:anyURI {source="GARD:0001038"} [Term] id: MONDO:0010541 name: X-linked calvarial hyperostosis subset: ordo_disease {source="Orphanet:391327"} synonym: "calvarial hyperostosis" RELATED [OMIM:302030] synonym: "isolated hyperostosis of the calvarium" RELATED [GARD:0001058] xref: MESH:C537963 {source="MONDO:equivalentTo"} xref: OMIM:302030 {source="Orphanet:391327/e", source="MONDO:equivalentTo", source="Orphanet:391327"} xref: Orphanet:391327 {source="MONDO:equivalentTo", source="OMIM:302030"} is_a: MONDO:0002185 {source="https://orcid.org/0000-0001-5208-3432"} ! hyperostosis property_value: exactMatch http://identifiers.org/mesh/C537963 property_value: exactMatch https://omim.org/entry/302030 property_value: exactMatch Orphanet:391327 property_value: excluded_subClassOf MONDO:0019703 {source="Orphanet:391327"} [Term] id: MONDO:0010542 name: dilated cardiomyopathy 3B def: "Any dilated cardiomyopathy in which the cause of the disease is a mutation in the DMD gene." [MONDO:patterns/disease_series_by_gene] synonym: "cardiomyopathy, dilated, 3B" RELATED [MONDO:Lexical, OMIM:302045] synonym: "cardiomyopathy, dilated, type 3B" EXACT [MONDORULE:4, OMIM:302045] synonym: "cardiomyopathy, dilated, X-linked" RELATED [OMIM:302045] synonym: "CMD3B" EXACT ABBREVIATION [DOID:0110461, MONDO:Lexical, OMIM:302045] synonym: "dilated cardiomyopathy 3B" EXACT [] synonym: "dilated cardiomyopathy caused by mutation in DMD" EXACT [MONDO:design_pattern] synonym: "dilated cardiomyopathy type 3B" EXACT [DOID:0110461, MONDORULE:4] synonym: "DMD dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "DMD-related dilated cardiomyopathy" RELATED [DOID:0060561] synonym: "X-linked dilated cardiomyopathy" RELATED [DOID:0110461] xref: DOID:0060561 {source="MONDO:equivalentObsolete"} xref: DOID:0081164 {source="MONDO:equivalentTo"} xref: DOID:0110461 {source="MONDO:equivalentTo"} xref: ICD9:425.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C580047 {source="DOID:0060561", source="MONDO:equivalentTo"} xref: OMIM:302045 {source="MONDO:equivalentTo", source="DOID:0110461"} xref: SCTID:702424003 {source="MONDO:equivalentTo"} xref: UMLS:C3668940 {source="OMIM:302045", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015470 ! familial isolated dilated cardiomyopathy is_a: MONDO:0016147 ! qualitative or quantitative defects of dystrophin property_value: exactMatch DOID:0081164 property_value: exactMatch DOID:0110461 property_value: exactMatch http://identifiers.org/mesh/C580047 property_value: exactMatch http://identifiers.org/snomedct/702424003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3668940 property_value: exactMatch https://omim.org/entry/302045 [Term] id: MONDO:0010543 name: Barth syndrome def: "Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." [Orphanet:111] subset: gard_rare {source="GARD:0005890"} subset: ordo_disease {source="Orphanet:111"} synonym: "3-methylglutaconic aciduria type 2" EXACT [Orphanet:111] synonym: "3-methylglutaconic aciduria type II" RELATED [GARD:0005890] synonym: "3-Methylglutaconic aciduria, type 2" RELATED [OMIM:302060] synonym: "3-Methylglutaconicaciduria type 2" EXACT [DOID:0050476] synonym: "3-Methylglutaconicaciduria type II" EXACT [DOID:0050476] synonym: "BARTH syndrome" RELATED [OMIM:302060] synonym: "Barth syndrome" EXACT [MONDO:Lexical, OMIM:302060] synonym: "Barth syndrome, X-linked recessive" EXACT [OMIM:302060, OMIM:genemap2] synonym: "BTHS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:302060, Orphanet:111] synonym: "cardioskeletal myopathy with neutropenia and abnormal mitochondria" EXACT [Orphanet:111] synonym: "cardioskeletal myopathy-neutropenia syndrome" EXACT [Orphanet:111] synonym: "MGA type 2" EXACT [DOID:0050476] synonym: "MGA type II" EXACT [DOID:0050476] synonym: "Mga, type 2" RELATED [OMIM:302060] synonym: "MGA2" EXACT ABBREVIATION [Orphanet:111] synonym: "TAZ defect" RELATED [GARD:0005890] synonym: "X-linked cardioskeletal myopathy and neutropenia" EXACT [Orphanet:111] xref: DOID:0050476 {source="MONDO:equivalentTo"} xref: ICD10CM:E78.71 {source="DOID:0050476", source="MONDO:equivalentTo"} xref: MESH:D056889 {source="DOID:0050476", source="Orphanet:111/e", source="MONDO:equivalentTo", source="Orphanet:111"} xref: NCIT:C84585 {source="DOID:0050476", source="MONDO:equivalentTo"} xref: OMIM:302060 {source="DOID:0050476", source="Orphanet:111/e", source="MONDO:equivalentTo", source="Orphanet:111"} xref: Orphanet:111 {source="MONDO:equivalentTo", source="OMIM:302060"} xref: SCTID:297231002 {source="DOID:0050476", source="MONDO:equivalentTo"} xref: UMLS:C0574083 {source="DOID:0050476", source="Orphanet:111/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:111", source="NCIT:C84585", source="OMIM:302060"} is_a: MONDO:0009637 {source="Orphanet:111"} ! inborn mitochondrial myopathy is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia is_a: MONDO:0015905 ! syndromic dyslipidemia is_a: MONDO:0016333 ! familial dilated cardiomyopathy is_a: MONDO:0017359 {source="DC-OMIM:302060", source="NCIT:C84585", source="OMIM:302060", source="Orphanet:111"} ! 3-methylglutaconic aciduria is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis property_value: exactMatch DOID:0050476 property_value: exactMatch http://identifiers.org/mesh/D056889 property_value: exactMatch http://identifiers.org/snomedct/297231002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0574083 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E78.71 property_value: exactMatch https://omim.org/entry/302060 property_value: exactMatch NCIT:C84585 property_value: exactMatch Orphanet:111 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5890/barth-syndrome xsd:anyURI {source="GARD:0005890"} [Term] id: MONDO:0010545 name: Nance-Horan syndrome def: "A syndrome characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism." [Orphanet:627] subset: gard_rare {source="GARD:0007161"} subset: ordo_malformation_syndrome {source="Orphanet:627"} synonym: "cataract dental syndrome" RELATED [GARD:0007161] synonym: "cataract X-linked with Hutchinsonian teeth" RELATED [GARD:0007161] synonym: "cataract, X-linked, with Hutchinsonian teeth" RELATED [OMIM:302350] synonym: "cataract-dental syndrome" RELATED [OMIM:302350] synonym: "Mesiodens cataract syndrome" RELATED [GARD:0007161] synonym: "Mesiodens-cataract syndrome" RELATED [OMIM:302350] synonym: "Nance-Horan syndrome" EXACT [MONDO:Lexical, OMIM:302350] synonym: "nance-horan syndrome, X-linked dominant" EXACT [OMIM:302350, OMIM:genemap2] synonym: "NHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:302350] xref: DOID:0060599 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538336 {source="MONDO:equivalentTo", source="Orphanet:627", source="DOID:0060599", source="Orphanet:627/e"} xref: OMIM:302350 {source="MONDO:equivalentTo", source="Orphanet:627", source="DOID:0060599", source="Orphanet:627/e"} xref: Orphanet:627 {source="OMIM:302350", source="MONDO:equivalentTo", source="DOID:0060599"} xref: SCTID:445257004 {source="MONDO:equivalentTo"} xref: UMLS:C0796085 {source="OMIM:302350", source="MONDO:equivalentTo", source="Orphanet:627", source="DOID:0060599", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:627/e"} is_a: MONDO:0021147 {source="MONDO:Entailed", source="Orphanet:627", source="Orphanet:627/inferred"} ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch DOID:0060599 property_value: exactMatch http://identifiers.org/mesh/C538336 property_value: exactMatch http://identifiers.org/snomedct/445257004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796085 property_value: exactMatch https://omim.org/entry/302350 property_value: exactMatch Orphanet:627 property_value: excluded_subClassOf MONDO:0015160 {source="Orphanet:627"} property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:627"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7161/nance-horan-syndrome xsd:anyURI {source="GARD:0007161"} [Term] id: MONDO:0010547 name: X-linked progressive cerebellar ataxia subset: ordo_disease {source="Orphanet:1175"} synonym: "olivopontocerebellar atrophy, X-linked" RELATED [OMIM:302500] synonym: "OPCA, X-linked" RELATED [OMIM:302500] synonym: "SCAX1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:302500] synonym: "spinocerebellar ataxia, X-linked 1" RELATED [MONDO:Lexical, OMIM:302500] synonym: "spinocerebellar ataxia, X-linked 1, X-linked recessive" EXACT [OMIM:302500, OMIM:genemap2] synonym: "spinocerebellar ataxia, X-linked type 1" EXACT [MONDORULE:1, OMIM:302500] xref: DOID:0111829 {source="MONDO:equivalentTo"} xref: MESH:C563134 {source="MONDO:equivalentTo"} xref: OMIM:302500 {source="Orphanet:1175", source="MONDO:equivalentTo", source="Orphanet:1175/e"} xref: Orphanet:1175 {source="MONDO:equivalentTo", source="OMIM:302500"} xref: UMLS:C0796205 {source="MONDO:equivalentTo", source="OMIM:302500", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0016612 {source="Orphanet:1175"} ! X-linked cerebellar ataxia property_value: exactMatch DOID:0111829 property_value: exactMatch http://identifiers.org/mesh/C563134 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796205 property_value: exactMatch https://omim.org/entry/302500 property_value: exactMatch Orphanet:1175 property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:1175"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010549 name: Charcot-Marie-Tooth disease X-linked dominant 1 def: "Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females." [NCIT:C129068] subset: ordo_disease {source="Orphanet:101075"} synonym: "Charcot Marie Tooth disease X-linked 1" EXACT [GARD:0001258] synonym: "Charcot-Marie-Tooth disease type X caused by mutation in GJB1" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease X-linked dominant 1" EXACT [] synonym: "Charcot-Marie-Tooth disease X-linked dominant type 1" EXACT [DOID:0110209, MONDORULE:1] synonym: "Charcot-Marie-Tooth disease, X-linked dominant, 1" EXACT [MONDO:Lexical, OMIM:302800] synonym: "Charcot-Marie-Tooth disease, X-linked dominant, type 1" EXACT [MONDORULE:1, OMIM:302800] synonym: "Charcot-Marie-Tooth disease, X-linked, 1" EXACT [GARD:0001258] synonym: "Charcot-Marie-Tooth neuropathy X type 1" EXACT [NCIT:C129068] synonym: "Charcot-Marie-Tooth neuropathy X-linked dominant 1" EXACT [DOID:0110209] synonym: "Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, X-linked dominant" EXACT [OMIM:302800, OMIM:genemap2] synonym: "Charcot-Marie-Tooth neuropathy, X-linked, 1" EXACT [OMIM:302800] synonym: "Charcot-Marie-Tooth peroneal muscular atrophy, X-linked" RELATED [OMIM:302800] synonym: "CMT1X" RELATED ABBREVIATION [DOID:0110209, Orphanet:101075] synonym: "CMT2" BROAD ABBREVIATION [OMIM:302800] synonym: "CMT2, formerly" BROAD [OMIM:302800] synonym: "CMTX" BROAD ABBREVIATION [OMIM:302800] synonym: "CMTX 1" EXACT [GARD:0001258] synonym: "CMTX1" EXACT ABBREVIATION [DOID:0110209, MONDO:Lexical, OMIM:302800, Orphanet:101075] synonym: "GJB1 Charcot-Marie-Tooth disease type X" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary motor and sensory neuropathy, X-linked" BROAD [OMIM:302800] synonym: "HMSN, X-linked" BROAD [OMIM:302800] synonym: "X-linked Charcot-Marie-Tooth disease type 1" EXACT [DOID:0110209] xref: DOID:0110209 {source="MONDO:equivalentTo"} xref: NCIT:C129068 {source="MONDO:equivalentTo"} xref: OMIM:302800 {source="Orphanet:101075/e", source="MONDO:equivalentTo", source="DOID:0110209", source="Orphanet:101075"} xref: Orphanet:101075 {source="MONDO:equivalentTo", source="DOID:0110209", source="OMIM:302800"} xref: SCTID:763455008 {source="MONDO:equivalentTo"} xref: UMLS:C0393808 {source="NCIT:C129068", source="Orphanet:101075/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:302800", source="Orphanet:101075"} is_a: MONDO:0018994 {source="DOID:0110209", source="MONDO:Redundant", source="Orphanet:101075"} ! Charcot-Marie-Tooth disease type X property_value: exactMatch DOID:0110209 property_value: exactMatch http://identifiers.org/snomedct/763455008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393808 property_value: exactMatch https://omim.org/entry/302800 property_value: exactMatch NCIT:C129068 property_value: exactMatch Orphanet:101075 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010550 name: Charcot-Marie-Tooth disease X-linked recessive 2 def: "X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals." [Orphanet:101076] subset: ordo_disease {source="Orphanet:101076"} synonym: "Charcot Marie Tooth disease X-linked recessive 2" EXACT [GARD:0001243] synonym: "Charcot-Marie-Tooth disease X-linked recessive type 2" EXACT [DOID:0110208, MONDORULE:1] synonym: "Charcot-Marie-Tooth disease, X-linked recessive, 2" EXACT [MONDO:Lexical, OMIM:302801] synonym: "Charcot-Marie-Tooth neuropathy X-linked recessive 2" EXACT [DOID:0110208] synonym: "Charcot-Marie-Tooth neuropathy, X-linked recessive, 2" EXACT [OMIM:302801] synonym: "Charcot-Marie-Tooth neuropathy, X-linked recessive, 2, X-linked recessive" EXACT [OMIM:302801, OMIM:genemap2] synonym: "CMTX 2" EXACT [GARD:0001243] synonym: "CMTX2" EXACT ABBREVIATION [DOID:0110208, MONDO:Lexical, OMIM:302801, Orphanet:101076] synonym: "X-linked Charcot-Marie-Tooth disease type 2" EXACT [DOID:0110208] xref: DOID:0110208 {source="MONDO:equivalentTo"} xref: MESH:C535302 {source="MONDO:equivalentTo"} xref: OMIM:302801 {source="DOID:0110208", source="Orphanet:101076/e", source="MONDO:equivalentTo", source="Orphanet:101076"} xref: Orphanet:101076 {source="DOID:0110208", source="MONDO:equivalentTo", source="OMIM:302801"} xref: SCTID:763457000 {source="MONDO:equivalentTo"} xref: UMLS:C1844873 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:302801", source="Orphanet:101076"} is_a: MONDO:0018994 {source="DOID:0110208", source="Orphanet:101076"} ! Charcot-Marie-Tooth disease type X property_value: exactMatch DOID:0110208 property_value: exactMatch http://identifiers.org/mesh/C535302 property_value: exactMatch http://identifiers.org/snomedct/763457000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844873 property_value: exactMatch https://omim.org/entry/302801 property_value: exactMatch Orphanet:101076 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010551 name: Charcot-Marie-Tooth disease X-linked recessive 3 def: "X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported." [Orphanet:101077] subset: ordo_disease {source="Orphanet:101077"} synonym: "Charcot Marie Tooth disease X-linked recessive 3" EXACT [GARD:0001244] synonym: "Charcot-Marie-Tooth disease X-linked recessive type 3" EXACT [DOID:0110211, MONDORULE:1] synonym: "Charcot-Marie-Tooth disease, X-linked recessive, 3" EXACT [MONDO:Lexical, OMIM:302802] synonym: "Charcot-Marie-Tooth neuropathy X-linked recessive 3" EXACT [DOID:0110211] synonym: "Charcot-Marie-Tooth neuropathy, X-linked recessive, 3" EXACT [OMIM:302802] synonym: "Charcot-Marie-Tooth neuropathy, X-linked recessive, 3, X-linked recessive" EXACT [OMIM:302802, OMIM:genemap2] synonym: "CMT3X" EXACT ABBREVIATION [DOID:0110211, Orphanet:101077] synonym: "CMTX 3" EXACT [GARD:0001244] synonym: "CMTX3" EXACT ABBREVIATION [DOID:0110211, MONDO:Lexical, OMIM:302802, Orphanet:101077] synonym: "X-linked Charcot-Marie-Tooth disease type 3" EXACT [DOID:0110211] xref: DOID:0110211 {source="MONDO:equivalentTo"} xref: MESH:C535303 {source="MONDO:equivalentTo"} xref: OMIM:302802 {source="Orphanet:101077", source="MONDO:equivalentTo", source="Orphanet:101077/e", source="DOID:0110211"} xref: Orphanet:101077 {source="MONDO:equivalentTo", source="DOID:0110211", source="OMIM:302802"} xref: SCTID:763458005 {source="MONDO:equivalentTo"} xref: UMLS:C1844865 {source="Orphanet:101077", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:302802"} is_a: MONDO:0018994 {source="DOID:0110211", source="Orphanet:101077"} ! Charcot-Marie-Tooth disease type X property_value: exactMatch DOID:0110211 property_value: exactMatch http://identifiers.org/mesh/C535303 property_value: exactMatch http://identifiers.org/snomedct/763458005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844865 property_value: exactMatch https://omim.org/entry/302802 property_value: exactMatch Orphanet:101077 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010554 name: Abruzzo-Erickson syndrome def: "Abruzzo-Erikson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis." [Orphanet:921] subset: gard_rare {source="GARD:0000360"} subset: ordo_malformation_syndrome {source="Orphanet:921"} synonym: "ABERS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:302905] synonym: "Abruzzo-Erickson syndrome" EXACT [MONDO:Lexical, OMIM:302905] synonym: "CHARGE like syndrome X-linked" RELATED [GARD:0000360] synonym: "CHARGE-like syndrome" EXACT [Orphanet:921] synonym: "CHARGE-like syndrome, X-linked" RELATED [OMIM:302905] synonym: "cleft palate-coloboma-deafness syndrome" EXACT [Orphanet:921] xref: DOID:0111826 {source="MONDO:equivalentTo"} xref: MESH:C535559 {source="Orphanet:921", source="MONDO:equivalentTo", source="Orphanet:921/e"} xref: OMIM:302905 {source="Orphanet:921", source="MONDO:equivalentTo", source="Orphanet:921/e"} xref: Orphanet:921 {source="OMIM:302905", source="MONDO:equivalentTo"} xref: SCTID:718574003 {source="MONDO:equivalentTo"} xref: UMLS:C1844862 {source="OMIM:302905", source="Orphanet:921", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:921/e"} is_a: MONDO:0015161 {source="Orphanet:921"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015620 {source="Orphanet:921"} ! syndromic urogenital tract malformation property_value: exactMatch DOID:0111826 property_value: exactMatch http://identifiers.org/mesh/C535559 property_value: exactMatch http://identifiers.org/snomedct/718574003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844862 property_value: exactMatch https://omim.org/entry/302905 property_value: exactMatch Orphanet:921 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/360/abruzzo-erickson-syndrome xsd:anyURI {source="GARD:0000360"} [Term] id: MONDO:0010555 name: X-linked chondrodysplasia punctata 1 def: "Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones." [Orphanet:79345] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:79345"} subset: prototype_pattern synonym: "ARSE X-linked chondrodysplasia punctata" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "arse X-linked chondrodysplasia punctata" EXACT [MONDO:design_pattern] synonym: "arylsulfatase E deficiency" RELATED [GARD:0001296] synonym: "brachytelephalangic chondrodysplasia punctata" EXACT [Orphanet:79345] synonym: "CDPX1" RELATED ABBREVIATION [GARD:0001296, MONDO:Lexical, OMIM:302950] synonym: "chondrodysplasia punctata 1 X-linked recessive" RELATED [GARD:0001296] synonym: "chondrodysplasia punctata 1, X-linked recessive" RELATED [MONDO:Lexical, OMIM:302950] synonym: "chondrodysplasia punctata brachytelephalangic" RELATED [GARD:0001296] synonym: "chondrodysplasia punctata, Brachytelephalangic" RELATED [OMIM:302950] synonym: "chondrodysplasia punctata, brachytelephalangic" RELATED [GARD:0001296] synonym: "chondrodysplasia punctata, X-linked recessive, X-linked recessive" EXACT [OMIM:302950, OMIM:genemap2] synonym: "CPXR" RELATED ABBREVIATION [GARD:0001296] synonym: "Cpxr" RELATED [OMIM:302950] synonym: "X-linked chondrodysplasia punctata 1" EXACT [] synonym: "X-linked chondrodysplasia punctata caused by mutation in ARSE" EXACT [] synonym: "X-linked chondrodysplasia punctata caused by mutation in arse" EXACT [MONDO:design_pattern] xref: OMIM:302950 {source="Orphanet:79345/e", source="MONDO:equivalentTo", source="GARD:0001296", source="Orphanet:79345"} xref: Orphanet:79345 {source="MONDO:equivalentTo", source="OMIM:302950", source="GARD:0001296"} xref: UMLS:C1844853 {source="Orphanet:79345/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:302950", source="Orphanet:79345"} xref: UMLS:C3669395 {source="MONDO:equivalentTo"} is_a: MONDO:0010556 {source="MONDO:Redundant"} ! X-linked chondrodysplasia punctata property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844853 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3669395 property_value: exactMatch https://omim.org/entry/302950 property_value: exactMatch Orphanet:79345 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1296/chondrodysplasia-punctata-1-x-linked-recessive xsd:anyURI {source="GARD:0001296"} [Term] id: MONDO:0010556 name: X-linked chondrodysplasia punctata def: "X-linked form of chondrodysplasia punctata." [MONDO:patterns/x_linked] subset: gard_rare subset: ordo_disease {source="Orphanet:35173"} subset: prototype_pattern synonym: "chondrodysplasia punctata, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "chondrodysplasia punctata, X-linked dominant" RELATED [GARD:0006189] synonym: "chondrodystrophia calcificans congenita" EXACT [DOID:0060292, Orphanet:35173] synonym: "CPXD" EXACT ABBREVIATION [GARD:0006189, Orphanet:35173] synonym: "X-linked dominant chondrodysplasia punctata" RELATED [Orphanet:35173] xref: DOID:0060292 {source="MONDO:equivalentTo"} xref: UMLS:C0263627 {source="MONDO:equivalentTo", source="Orphanet:35173", source="Orphanet:35173/e"} is_a: MONDO:0000425 ! X-linked disease is_a: MONDO:0015775 {source="Orphanet:35173"} ! non-rhizomelic chondrodysplasia punctata is_a: MONDO:0019240 {source="Orphanet:35173"} ! sterol biosynthesis disorder property_value: exactMatch DOID:0060292 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263627 [Term] id: MONDO:0010557 name: choroideremia def: "Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina." [Orphanet:180] subset: gard_rare {source="GARD:0006061"} subset: ordo_disease {source="Orphanet:180"} synonym: "CHM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:303100, Orphanet:180] synonym: "choroidal sclerosis" RELATED [OMIM:303100] synonym: "choroideremia" EXACT [MONDO:Lexical, OMIM:303100] synonym: "progressive choroidal atrophy" EXACT [DOID:9821, NCIT:C34469] synonym: "progressive tapetochoroidal dystrophy" RELATED [GARD:0006061] synonym: "Tapetochoroidal dystrophy" EXACT [Orphanet:180] synonym: "Tapetochoroidal dystrophy, progressive" RELATED [OMIM:303100] synonym: "TCD" RELATED ABBREVIATION [GARD:0006061] xref: DOID:9821 {source="MONDO:equivalentTo"} xref: ICD10CM:H31.21 {source="DOID:9821", source="MONDO:equivalentTo"} xref: ICD9:363.55 {source="DOID:9821", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10008791 {source="Orphanet:180", source="Orphanet:180/e"} xref: MESH:D015794 {source="DOID:9821", source="Orphanet:180", source="MONDO:equivalentTo", source="Orphanet:180/e"} xref: NCIT:C34469 {source="DOID:9821", source="MONDO:equivalentTo"} xref: OMIM:303100 {source="DOID:9821", source="Orphanet:180", source="MONDO:equivalentTo", source="Orphanet:180/e"} xref: Orphanet:180 {source="OMIM:303100", source="MONDO:equivalentTo"} xref: SCTID:75241009 {source="DOID:9821", source="MONDO:equivalentTo"} xref: UMLS:C0008525 {source="DOID:9821", source="OMIM:303100", source="Orphanet:180", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:180/e", source="NCIT:C34469"} is_a: MONDO:0000425 {source="MESH:D015794", source="MONDO:Redundant"} ! X-linked disease is_a: MONDO:0001898 {source="DOID:9821", source="MESH:D015794"} ! optic choroid disorder is_a: MONDO:0019118 ! inherited retinal dystrophy is_a: MONDO:0043218 ! neurovascular disorder property_value: closeMatch http://identifiers.org/meddra/10008791 property_value: exactMatch DOID:9821 property_value: exactMatch http://identifiers.org/mesh/D015794 property_value: exactMatch http://identifiers.org/snomedct/75241009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008525 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H31.21 property_value: exactMatch https://omim.org/entry/303100 property_value: exactMatch NCIT:C34469 property_value: exactMatch Orphanet:180 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6061/choroideremia xsd:anyURI {source="GARD:0006061"} [Term] id: MONDO:0010558 name: choroideremia-deafness-obesity syndrome def: "Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state." [Orphanet:1435] subset: ordo_malformation_syndrome {source="Orphanet:1435"} synonym: "Ayazi syndrome" EXACT [Orphanet:1435] synonym: "choroideremia deafness obesity" RELATED [GARD:0000369] synonym: "choroideremia, deafness, and intellectual disability" RELATED [OMIM:303110] synonym: "choroideremia, deafness, and mental retardation" RELATED DEPRECATED [OMIM:303110] synonym: "choroideremia, obesity, and congenital deafness" RELATED [GARD:0000369] synonym: "chromosome Xq21 deletion syndrome" RELATED [OMIM:303110] synonym: "Xq21 deletion syndrome, X-linked recessive" EXACT [OMIM:303110, OMIM:genemap2] xref: MESH:C537793 {source="MONDO:equivalentTo"} xref: OMIM:303110 {source="MONDO:equivalentTo", source="Orphanet:1435", source="Orphanet:1435/e"} xref: Orphanet:1435 {source="OMIM:303110", source="MONDO:equivalentTo"} xref: SCTID:717761005 {source="MONDO:equivalentTo"} xref: UMLS:C1844836 {source="MONDO:equivalentTo", source="Orphanet:1435", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0016565 {source="Orphanet:1435"} ! syndromic genetic obesity is_a: MONDO:0019118 ! inherited retinal dystrophy property_value: exactMatch http://identifiers.org/mesh/C537793 property_value: exactMatch http://identifiers.org/snomedct/717761005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844836 property_value: exactMatch https://omim.org/entry/303110 property_value: exactMatch Orphanet:1435 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010559 name: MASA syndrome def: "MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles." [Orphanet:2466] subset: ordo_clinical_subtype {source="Orphanet:2466"} synonym: "adducted thumb with intellectual disability" RELATED [OMIM:303350] synonym: "adducted thumb with mental retardation" RELATED DEPRECATED [OMIM:303350] synonym: "Clasped thumb and intellectual disability" RELATED [OMIM:303350] synonym: "Clasped thumb and mental retardation" RELATED DEPRECATED [OMIM:303350] synonym: "CRASH syndrome" RELATED [DOID:0060246] synonym: "CRASH syndrome, X-linked recessive" RELATED [OMIM:303350, OMIM:genemap2] synonym: "Gareis-Mason syndrome" EXACT [DOID:0060246, OMIM:303350] synonym: "hereditary spastic paraplegia 1" EXACT [DOID:0060246] synonym: "intellectual disability aphasia shuffling Gait adducted thumbs (MASA)" RELATED [GARD:0006986] synonym: "intellectual disability, aphasia, shuffling Gait, and adducted thumbs" RELATED [OMIM:303350] synonym: "intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome" EXACT [Orphanet:2466] synonym: "MASA syndrome" EXACT [OMIM:303350] synonym: "masa syndrome, X-linked recessive" EXACT [OMIM:303350, OMIM:genemap2] synonym: "mental retardation aphasia shuffling Gait adducted thumbs (MASA)" RELATED DEPRECATED [GARD:0006986] synonym: "mental retardation, aphasia, shuffling Gait, and adducted thumbs" RELATED DEPRECATED [OMIM:303350] synonym: "spastic paraplegia 1" RELATED [GARD:0006986] synonym: "spastic paraplegia 1, X-linked" RELATED [OMIM:303350] synonym: "spastic paraplegia, X-linked" EXACT [NCIT:C129930] synonym: "thumb congenital clasped with intellectual disability" RELATED [GARD:0006986] synonym: "thumb congenital clasped with mental retardation" RELATED DEPRECATED [GARD:0006986] synonym: "thumb, congenital Clasped, with intellectual disability" RELATED [OMIM:303350] synonym: "thumb, congenital Clasped, with mental retardation" RELATED DEPRECATED [OMIM:303350] synonym: "X-linked complicated hereditary spastic paraplegia type 1" EXACT [DOID:0060246] synonym: "X-linked corpus callosum agenesis" EXACT [DOID:0060246] synonym: "X-linked spastic paraplegia 1" EXACT [DOID:0060246] xref: DOID:0060246 {source="MONDO:equivalentTo"} xref: NCIT:C129930 {source="MONDO:equivalentTo"} xref: OMIM:303350 {source="DOID:0060246", source="Orphanet:2466", source="MONDO:equivalentTo", source="Orphanet:2466/e"} xref: Orphanet:2466 {source="DOID:0060246", source="MONDO:equivalentTo", source="OMIM:303350"} xref: SCTID:716996008 {source="MONDO:equivalentTo"} xref: UMLS:C0795953 {source="DOID:0060246", source="Orphanet:2466", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C129930", source="Orphanet:2466/e", source="OMIM:303350"} is_a: MONDO:0017140 {source="Orphanet:2466", source="https://www.ncbi.nlm.nih.gov/books/NBK1484/"} ! L1 syndrome is_a: MONDO:0020339 {source="Orphanet:2466"} ! X-linked complex spastic paraplegia property_value: exactMatch DOID:0060246 property_value: exactMatch http://identifiers.org/snomedct/716996008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795953 property_value: exactMatch https://omim.org/entry/303350 property_value: exactMatch NCIT:C129930 property_value: exactMatch Orphanet:2466 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010560 name: cleft palate with or without ankyloglossia, X-linked def: "X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported." [Orphanet:324601] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:324601"} synonym: "cleft palate with ankyloglossia" EXACT [OMIM:303400, OMIM:genemap2] synonym: "cleft palate with or without ankyloglossia, X-linked" EXACT [MESH:C536426, MONDO:Lexical, OMIM:303400] synonym: "cleft palate X-linked" RELATED [GARD:0001394] synonym: "cleft palate, X-linked" RELATED [MESH:C536426] synonym: "CPX" RELATED ABBREVIATION [GARD:0001394, MESH:C536426, MONDO:Lexical, OMIM:303400] synonym: "X-linked cleft palate" RELATED [GARD:0001394, MESH:C536426] synonym: "X-linked cleft palate and ankyloglossia" EXACT [DOID:0060613, MONDO:0017938, Orphanet:324601] xref: DOID:0060613 {source="MONDO:equivalentTo"} xref: MESH:C536426 {source="MONDO:equivalentTo"} xref: OMIM:303400 {source="Orphanet:324601/ntbt", source="Orphanet:324601", source="MONDO:equivalentTo", source="DOID:0060613", source="GARD:0001394"} xref: Orphanet:324601 {source="OMIM:303400", source="MONDO:equivalentTo", source="DOID:0060613"} xref: SCTID:766761000 {source="MONDO:equivalentTo"} is_a: MONDO:0016064 {source="DC-OMIM:303400", source="MESH:C536426"} ! cleft palate property_value: exactMatch DOID:0060613 property_value: exactMatch http://identifiers.org/mesh/C536426 property_value: exactMatch http://identifiers.org/snomedct/766761000 property_value: exactMatch https://omim.org/entry/303400 property_value: exactMatch Orphanet:324601 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1394/cleft-palate-x-linked xsd:anyURI {source="GARD:0001394"} [Term] id: MONDO:0010561 name: Coffin-Lowry syndrome def: "A rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes." [Orphanet:192] subset: gard_rare {source="GARD:0006123"} subset: ordo_malformation_syndrome {source="Orphanet:192"} synonym: "CLS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:303600, Orphanet:192] synonym: "Coffin syndrome" RELATED [GARD:0006123] synonym: "Coffin syndrome 1" RELATED [GARD:0008589] synonym: "COFFIN-Lowry syndrome" RELATED [OMIM:303600] synonym: "Coffin-Lowry syndrome" EXACT [MONDO:Lexical, OMIM:303600] synonym: "Coffin-Lowry syndrome, X-linked dominant" EXACT [OMIM:303600, OMIM:genemap2] synonym: "dwarfism, lean spastic type" RELATED [GARD:0008589, MESH:C536435] synonym: "intellectual disability with osteocartilaginous abnormalities" RELATED [GARD:0006123] synonym: "lean spastic dwarfism" RELATED [GARD:0008589, MESH:C536435] synonym: "mental retardation with osteocartilaginous abnormalities" RELATED DEPRECATED [GARD:0006123] xref: DOID:3783 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536435 {source="MONDO:equivalentTo"} xref: MESH:D038921 {source="DOID:3783", source="MONDO:equivalentTo", source="Orphanet:192", source="Orphanet:192/e"} xref: NCIT:C84643 {source="DOID:3783", source="MONDO:equivalentTo"} xref: OMIM:303600 {source="DOID:3783", source="MONDO:equivalentTo", source="Orphanet:192", source="Orphanet:192/e"} xref: Orphanet:192 {source="MONDO:equivalentTo", source="OMIM:303600"} xref: SCTID:15182000 {source="DOID:3783", source="MONDO:equivalentTo"} xref: UMLS:C0265252 {source="DOID:3783", source="MONDO:equivalentTo", source="OMIM:303600", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:192", source="Orphanet:192/e", source="NCIT:C84643"} is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch DOID:3783 property_value: exactMatch http://identifiers.org/mesh/C536435 property_value: exactMatch http://identifiers.org/mesh/D038921 property_value: exactMatch http://identifiers.org/snomedct/15182000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265252 property_value: exactMatch https://omim.org/entry/303600 property_value: exactMatch NCIT:C84643 property_value: exactMatch Orphanet:192 property_value: excluded_subClassOf MONDO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/926"} property_value: excluded_subClassOf MONDO:0005027 {source="MESH:C536435", source="MONDO:Redundant"} property_value: excluded_subClassOf MONDO:0005392 {source="MESH:C536435"} property_value: excluded_subClassOf MONDO:0016565 {source="Orphanet:192"} property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:192"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6123/coffin-lowry-syndrome xsd:anyURI {source="GARD:0006123"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8589/coffin-syndrome-1 xsd:anyURI {source="GARD:0008589"} [Term] id: MONDO:0010562 name: colonic atresia def: "Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns." [Orphanet:1198] subset: ordo_morphological_anomaly {source="Orphanet:1198"} synonym: "atresia of colon" EXACT [NCIT:C101024] synonym: "colon atresia" EXACT [NCIT:C101024] synonym: "colonic atresia" EXACT [MONDO:ambiguous, OMIM:303650] synonym: "colonic atresia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "congenital atresia of colon" EXACT [NCIT:C101024] xref: HP:0010448 {source="MONDO:otherHierarchy"} xref: MESH:C562562 {source="MONDO:equivalentTo"} xref: NCIT:C101024 {source="MONDO:equivalentTo"} xref: OMIM:303650 {source="Orphanet:1198", source="MONDO:equivalentTo", source="Orphanet:1198/e"} xref: Orphanet:1198 {source="OMIM:303650", source="MONDO:equivalentTo"} xref: SCTID:37054000 {source="MONDO:equivalentTo"} is_a: MONDO:0015211 {source="Orphanet:1198"} ! non-syndromic intestinal malformation property_value: exactMatch http://identifiers.org/mesh/C562562 property_value: exactMatch http://identifiers.org/snomedct/37054000 property_value: exactMatch https://omim.org/entry/303650 property_value: exactMatch NCIT:C101024 property_value: exactMatch Orphanet:1198 property_value: IAO:0000589 "colonic atresia (disease)" xsd:string [Term] id: MONDO:0010563 name: blue cone monochromacy def: "Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia." [Orphanet:16] subset: gard_rare subset: ordo_disease {source="Orphanet:16"} synonym: "achromatopsia incomplete X-linked" RELATED [GARD:0000917] synonym: "atypical X-linked achromatopsia" EXACT [Orphanet:16] synonym: "BCM" RELATED ABBREVIATION [GARD:0000917, MONDO:Lexical, OMIM:303700] synonym: "blue cone monochromacy" EXACT [MONDO:Lexical, OMIM:303700, Orphanet:16] synonym: "blue cone monochromacy, X-linked recessive" EXACT [OMIM:303700, OMIM:genemap2] synonym: "blue cone monochromatism" EXACT [MONDO:0015563, OMIM:303700] synonym: "CBBM" RELATED ABBREVIATION [GARD:0000917] synonym: "color blindness blue mono cone monochromatic type" RELATED [GARD:0000917] synonym: "color blindness, blue monocone monochromatic type" EXACT [Orphanet:16] synonym: "colorblindness, blue-Mono-cone-monochromatic type" RELATED [OMIM:303700] synonym: "colour blindness blue mono cone monochromatic type" RELATED OMO:0003005 [] synonym: "colour blindness, blue monocone monochromatic type" EXACT OMO:0003005 [] synonym: "cone dystrophy 5, X-linked" RELATED [OMIM:303700] synonym: "incomplete achromatopsia X-linked" RELATED [GARD:0000917] synonym: "S cone monochromacy" EXACT [Orphanet:16] synonym: "S cone monochromatism" EXACT [Orphanet:16] synonym: "X-chromosome-linked achromatopsia" RELATED [GARD:0000917] synonym: "X-linked achromatopsia incomplete" RELATED [GARD:0000917] synonym: "X-linked incomplete achromatopsia" EXACT [Orphanet:16] xref: DOID:0050679 {source="MONDO:equivalentTo"} xref: MESH:C536238 {source="MONDO:equivalentTo", source="Orphanet:16", source="Orphanet:16/e"} xref: OMIM:303700 {source="GARD:0000917", source="MONDO:equivalentTo", source="Orphanet:16", source="Orphanet:16/e"} xref: Orphanet:16 {source="GARD:0000917", source="MONDO:equivalentTo", source="OMIM:303700"} xref: SCTID:24704003 {source="MONDO:equivalentTo"} xref: UMLS:CN036572 {source="MONDO:equivalentTo"} is_a: MONDO:0018852 {source="DOID:0050679"} ! achromatopsia is_a: MONDO:0020605 ! X-linked recessive disease is_a: MONDO:0021155 ! X-linked cone-rod dystrophy property_value: exactMatch DOID:0050679 property_value: exactMatch http://identifiers.org/mesh/C536238 property_value: exactMatch http://identifiers.org/snomedct/24704003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN036572 property_value: exactMatch https://omim.org/entry/303700 property_value: exactMatch Orphanet:16 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/917/blue-cone-monochromatism xsd:anyURI {source="GARD:0000917"} [Term] id: MONDO:0010568 name: Aicardi syndrome def: "Aicardi syndrome is a rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females." [Orphanet:50] subset: gard_rare {source="GARD:0005764"} subset: ordo_disease {source="Orphanet:50"} synonym: "agenesis of corpus callosum with chorioretinal abnormality" EXACT [Orphanet:50] synonym: "AIC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:304050] synonym: "Aicardi syndrome" EXACT [MONDO:Lexical, OMIM:304050] synonym: "Aicardi syndrome, X-linked dominant" EXACT [OMIM:304050, OMIM:genemap2] synonym: "corpus callosum agenesis of with chorioretinal abnormality" EXACT [Orphanet:50] synonym: "corpus callosum, agenesis of, with chorioretinal Abnormality" RELATED [OMIM:304050] xref: DOID:8461 {source="MONDO:equivalentTo"} xref: MedDRA:10054935 {source="Orphanet:50/e", source="Orphanet:50"} xref: MESH:D058540 {source="Orphanet:50/e", source="MONDO:equivalentTo", source="DOID:8461", source="Orphanet:50"} xref: NCIT:C35256 {source="MONDO:equivalentTo", source="DOID:8461"} xref: OMIM:304050 {source="Orphanet:50/e", source="MONDO:equivalentTo", source="DOID:8461", source="Orphanet:50"} xref: Orphanet:50 {source="MONDO:equivalentTo", source="OMIM:304050", source="DOID:8461"} xref: SCTID:80651009 {source="MONDO:equivalentTo", source="DOID:8461"} xref: UMLS:C0175713 {source="Orphanet:50/e", source="MONDO:equivalentTo", source="NCIT:C35256", source="MONDO:ncbi_mim2gene_medline", source="OMIM:304050", source="DOID:8461", source="Orphanet:50"} is_a: EFO:0010642 {source="https://orcid.org/0000-0002-4142-7153"} ! Neurodevelopmental disorder is_a: MONDO:0002254 {source="DOID:8461", source="MONDO:Redundant", source="NCIT:C35256"} ! syndromic disease is_a: MONDO:0015368 {source="MONDO:0020262-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neuro-ophthalmological disease is_a: MONDO:0021147 {source="MONDO:0017122-obsoleted"} ! disorder of development or morphogenesis property_value: closeMatch http://identifiers.org/meddra/10054935 property_value: exactMatch DOID:8461 property_value: exactMatch http://identifiers.org/mesh/D058540 property_value: exactMatch http://identifiers.org/snomedct/80651009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0175713 property_value: exactMatch https://omim.org/entry/304050 property_value: exactMatch NCIT:C35256 property_value: exactMatch Orphanet:50 property_value: excluded_subClassOf MONDO:0015218 {source="Orphanet:50"} property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:50"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5764/aicardi-syndrome xsd:anyURI {source="GARD:0005764"} [Term] id: MONDO:0010569 name: X-linked complicated corpus callosum dysgenesis def: "X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum." [Orphanet:1497] subset: ordo_clinical_subtype {source="Orphanet:1497"} synonym: "corpus callosum, partial agenesis of, X-linked" RELATED [OMIM:304100] synonym: "corpus callosum, partial agenesis of, X-linked recessive" EXACT [OMIM:304100, OMIM:genemap2] synonym: "X-linked complicated corpus callosum agenesis" RELATED [GARD:0012526] synonym: "X-linked partial agenesis of corpus callosum" RELATED [GARD:0012526] synonym: "X-linked partial corpus callosum agenesis" RELATED [GARD:0012526] xref: MESH:C564115 {source="MONDO:equivalentTo"} xref: OMIM:304100 {source="Orphanet:1497", source="MONDO:equivalentTo", source="Orphanet:1497/e"} xref: Orphanet:1497 {source="OMIM:304100", source="MONDO:equivalentTo"} xref: UMLS:C1839909 {source="OMIM:304100", source="Orphanet:1497", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0017140 {source="Orphanet:1497", source="https://www.ncbi.nlm.nih.gov/books/NBK1484/"} ! L1 syndrome property_value: exactMatch http://identifiers.org/mesh/C564115 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839909 property_value: exactMatch https://omim.org/entry/304100 property_value: exactMatch Orphanet:1497 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010570 name: craniofrontonasal syndrome def: "An X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism." [Orphanet:1520] subset: ordo_malformation_syndrome {source="Orphanet:1520"} synonym: "CFND" EXACT ABBREVIATION [Orphanet:1520] synonym: "CFNS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:304110, Orphanet:1520] synonym: "craniofrontonasal dysostosis" RELATED [OMIM:304110] synonym: "craniofrontonasal dysplasia" EXACT [DOID:14737, OMIM:304110] synonym: "craniofrontonasal dysplasia, X-linked dominant" EXACT [OMIM:304110, OMIM:genemap2] synonym: "craniofrontonasal syndrome" EXACT [MONDO:Lexical, OMIM:304110, Orphanet:1520] xref: DOID:14737 {source="MONDO:equivalentTo"} xref: MESH:C536456 {source="DOID:14737", source="Orphanet:1520", source="MONDO:equivalentTo", source="Orphanet:1520/e"} xref: OMIM:304110 {source="DOID:14737", source="Orphanet:1520", source="MONDO:equivalentTo", source="Orphanet:1520/e"} xref: Orphanet:1520 {source="OMIM:304110", source="MONDO:equivalentTo"} xref: SCTID:715421009 {source="MONDO:equivalentTo"} xref: UMLS:C0220767 {source="OMIM:304110", source="DOID:14737", source="Orphanet:1520", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1520/e"} is_a: MONDO:0021635 {source="Wikipedia:Neurocristopathy"} ! neurocristopathy is_a: MONDO:0800085 {source="PMID:31633310"} ! dysostosis with predominant craniofacial involvement property_value: exactMatch DOID:14737 property_value: exactMatch http://identifiers.org/mesh/C536456 property_value: exactMatch http://identifiers.org/snomedct/715421009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220767 property_value: exactMatch https://omim.org/entry/304110 property_value: exactMatch Orphanet:1520 property_value: excluded_subClassOf MONDO:0016643 {source="Orphanet:1520"} property_value: excluded_subClassOf MONDO:0018237 {source="Orphanet:1520"} property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:1520"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0010571 name: otopalatodigital syndrome type 2 def: "A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival." [Orphanet:90652] subset: ordo_clinical_subtype {source="Orphanet:90652"} synonym: "Andre syndrome" RELATED [GARD:0005802] synonym: "cranio-oro-digital syndrome" RELATED [GARD:0005802] synonym: "cranioorodigital syndrome" RELATED [OMIM:304120] synonym: "faciopalatoosseous syndrome" RELATED [OMIM:304120] synonym: "FPO" RELATED ABBREVIATION [GARD:0005802] synonym: "OPD 2 syndrome" EXACT [OMIM:304120] synonym: "OPD II syndrome" EXACT [Orphanet:90652] synonym: "OPD syndrome 2" EXACT [OMIM:304120, Orphanet:90652] synonym: "OPD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:304120] synonym: "oto-palato-digital syndrome type 2" RELATED [GARD:0005802] synonym: "otopalatodigital syndrome, type 2" RELATED [OMIM:304120] synonym: "otopalatodigital syndrome, type II" RELATED [MONDO:Lexical, OMIM:304120] synonym: "otopalatodigital syndrome, type II, X-linked dominant" EXACT [OMIM:304120, OMIM:genemap2] xref: DOID:0111784 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538089 {source="MONDO:equivalentTo", source="Orphanet:90652", source="Orphanet:90652/e"} xref: OMIM:304120 {source="MONDO:equivalentTo", source="Orphanet:90652", source="Orphanet:90652/e"} xref: Orphanet:90652 {source="MONDO:equivalentTo", source="OMIM:304120"} xref: SCTID:42432003 {source="MONDO:equivalentTo"} is_a: MONDO:0019027 {source="Orphanet:90652"} ! otopalatodigital syndrome property_value: exactMatch DOID:0111784 property_value: exactMatch http://identifiers.org/mesh/C538089 property_value: exactMatch http://identifiers.org/snomedct/42432003 property_value: exactMatch https://omim.org/entry/304120 property_value: exactMatch Orphanet:90652 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0010572 name: occipital horn syndrome def: "Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." [Orphanet:198] subset: ordo_disease {source="Orphanet:198"} synonym: "cutis laxa X-linked" RELATED [GARD:0004017] synonym: "cutis laxa, X-linked" RELATED [OMIM:304150] synonym: "cutis laxa, X-linked, formerly" RELATED [OMIM:304150] synonym: "EDS IX" EXACT [OMIM:304150, Orphanet:198] synonym: "EDS IX (formerly)" RELATED [GARD:0004017] synonym: "EDS IX, formerly" RELATED [OMIM:304150] synonym: "EDS9" RELATED ABBREVIATION [OMIM:304150] synonym: "EDS9, formerly" RELATED [OMIM:304150] synonym: "Ehlers-Danlos syndrome type 9" EXACT [Orphanet:198] synonym: "Ehlers-Danlos syndrome type IX" EXACT [Orphanet:198] synonym: "Ehlers-Danlos syndrome, occipital horn type" RELATED [OMIM:304150] synonym: "Ehlers-Danlos syndrome, occipital horn type (formerly)" RELATED [GARD:0004017] synonym: "Ehlers-Danlos syndrome, occipital horn type, formerly" RELATED [OMIM:304150] synonym: "occipital horn syndrome" EXACT [MONDO:Lexical, OMIM:304150] synonym: "occipital horn syndrome, X-linked recessive" EXACT [OMIM:304150, OMIM:genemap2] synonym: "OHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:304150] synonym: "X-linked cutis laxa" EXACT [Orphanet:198] xref: DOID:0111272 {source="MONDO:equivalentTo"} xref: MESH:C537860 {source="Orphanet:198/e", source="MONDO:equivalentTo", source="Orphanet:198"} xref: OMIM:304150 {source="Orphanet:198/e", source="MONDO:equivalentTo", source="Orphanet:198"} xref: Orphanet:198 {source="MONDO:equivalentTo", source="OMIM:304150"} xref: SCTID:59399004 {source="MONDO:equivalentTo"} is_a: MONDO:0015160 {source="Orphanet:198"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0017762 {source="Orphanet:198"} ! disorder of copper metabolism is_a: MONDO:0100237 {source="MESH:C537860", source="Orphanet:198"} ! inherited cutis laxa property_value: exactMatch DOID:0111272 property_value: exactMatch http://identifiers.org/mesh/C537860 property_value: exactMatch http://identifiers.org/snomedct/59399004 property_value: exactMatch https://omim.org/entry/304150 property_value: exactMatch Orphanet:198 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010574 name: syndromic X-linked intellectual disability 5 def: "X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition." [Orphanet:1568] comment: Editor note: check relationship to friend syndrome subset: ordo_malformation_syndrome {source="Orphanet:85329", source="Orphanet:1568"} synonym: "Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures" RELATED [GARD:0008520] synonym: "fried syndrome" RELATED [DOID:0060800] synonym: "intellectual disability X-linked syndromic 5" RELATED [GARD:0008520] synonym: "intellectual disability X-linked with Dandy-Walker malformation basal ganglia disease and seizures" RELATED [GARD:0008520] synonym: "intellectual disability, X-linked 59" RELATED [OMIM:304340] synonym: "intellectual disability, X-linked syndromic 5" EXACT [DOID:0060800] synonym: "intellectual disability, X-linked, syndromic 21" RELATED [OMIM:304340] synonym: "intellectual disability, X-linked, syndromic 5" RELATED [OMIM:304340] synonym: "intellectual disability, X-linked, syndromic, fried type" RELATED [OMIM:304340] synonym: "intellectual disability, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures" RELATED [OMIM:304340] synonym: "mental retardation X-linked syndromic 5" RELATED DEPRECATED [GARD:0008520] synonym: "mental retardation X-linked with Dandy-Walker malformation basal ganglia disease and seizures" RELATED DEPRECATED [GARD:0008520] synonym: "mental retardation, X-linked 59" RELATED DEPRECATED [OMIM:304340] synonym: "mental retardation, X-linked syndromic 5" EXACT DEPRECATED [DOID:0060800] synonym: "mental retardation, X-linked, syndromic 21" RELATED DEPRECATED [OMIM:304340] synonym: "mental retardation, X-linked, syndromic 5" RELATED DEPRECATED [OMIM:304340] synonym: "mental retardation, X-linked, syndromic, fried type" RELATED DEPRECATED [OMIM:304340] synonym: "mental retardation, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures" RELATED DEPRECATED [OMIM:304340] synonym: "MRX59" EXACT ABBREVIATION [DOID:0060800] synonym: "MRXS21" EXACT ABBREVIATION [DOID:0060800] synonym: "MRXS5" RELATED ABBREVIATION [GARD:0008520] synonym: "PETTIGREW syndrome" RELATED [MONDO:Lexical, OMIM:304340] synonym: "Pettigrew syndrome" EXACT [DOID:0060800] synonym: "Pettigrew syndrome, X-linked recessive" EXACT [OMIM:304340, OMIM:genemap2] synonym: "PGS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:304340] synonym: "syndromic X-linked intellectual disability 21" EXACT [DOID:0060800] synonym: "syndromic X-linked intellectual disability fried type" EXACT [DOID:0060800] synonym: "syndromic X-linked intellectual disability type 5" EXACT [DOID:0060800, MONDORULE:1] synonym: "syndromic X-linked mental retardation 21" EXACT DEPRECATED [DOID:0060800] synonym: "syndromic X-linked mental retardation fried type" EXACT DEPRECATED [DOID:0060800] synonym: "X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - seizures" RELATED [GARD:0008520] synonym: "X-linked intellectual disability 59" EXACT [DOID:0060800] synonym: "X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome" EXACT [DOID:0060800] synonym: "X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome" EXACT [MONDO:0019425] synonym: "X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behaviour syndrome" EXACT OMO:0003005 [] synonym: "X-linked mental retardation 59" EXACT DEPRECATED [DOID:0060800] synonym: "X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures" EXACT [DOID:0060800] xref: DOID:0060800 {source="MONDO:equivalentTo"} xref: NCIT:C124839 {source="MONDO:equivalentTo"} xref: OMIM:304340 {source="MONDO:equivalentTo", source="DOID:0060800", source="Orphanet:1568", source="Orphanet:1568/ntbt"} xref: Orphanet:1568 {source="MONDO:equivalentTo", source="DOID:0060800", source="OMIM:304340"} xref: Orphanet:85329 {source="MONDO:equivalentTo"} xref: Orphanet:85335 {source="DOID:0060800", source="MONDO:directSiblingOf", source="OMIM:304340"} xref: SCTID:719139003 {source="MONDO:equivalentTo"} xref: UMLS:C0796254 {source="NCIT:C124839", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:0060800", source="Orphanet:1568", source="OMIM:304340", source="Orphanet:1568/e"} xref: UMLS:CN206181 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:85329"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020022 ! central nervous system malformation is_a: MONDO:0020119 {source="DC-OMIM:304340", source="DOID:0060800", source="OMIM:304340", source="Orphanet:1568", source="Orphanet:85329", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation property_value: exactMatch DOID:0060800 property_value: exactMatch http://identifiers.org/snomedct/719139003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796254 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206181 property_value: exactMatch https://omim.org/entry/304340 property_value: exactMatch NCIT:C124839 property_value: exactMatch Orphanet:1568 property_value: exactMatch Orphanet:85329 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010575 name: deafness-hypogonadism syndrome def: "This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behavior." [Orphanet:90646] subset: gard_rare {source="GARD:0001691"} subset: ordo_malformation_syndrome {source="Orphanet:90646"} synonym: "deafness hypogonadism syndrome" RELATED [GARD:0001691] synonym: "deafness-hypogonadism syndrome" EXACT [MONDO:Lexical, OMIM:304350] synonym: "DHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:304350] xref: MESH:C564435 {source="MONDO:equivalentTo"} xref: OMIM:304350 {source="Orphanet:90646/e", source="MONDO:equivalentTo", source="Orphanet:90646"} xref: Orphanet:90646 {source="MONDO:equivalentTo", source="OMIM:304350"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015906"} ! rare property_value: exactMatch http://identifiers.org/mesh/C564435 property_value: exactMatch https://omim.org/entry/304350 property_value: exactMatch Orphanet:90646 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1691/deafness-hypogonadism-syndrome xsd:anyURI {source="GARD:0001691"} [Term] id: MONDO:0010576 name: X-linked mixed hearing loss with perilymphatic gusher def: "X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafnesss affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss." [Orphanet:383] subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:383"} synonym: "central hearing loss" BROAD [DOID:10003, ICD9CM:389.14] synonym: "conductive deafness with stapes fixation" NARROW [Orphanet:383] synonym: "deafness 3 conductive with stapes fixation" RELATED [GARD:0004504] synonym: "deafness 3, conductive, with stapes fixation" RELATED [OMIM:304400] synonym: "deafness conductive with stapes fixation" RELATED [GARD:0004504] synonym: "deafness mixed with perilymphatic gusher" RELATED [GARD:0004504] synonym: "deafness mixed with perilymphatic gusher, X-linked" NARROW [GARD:0001694] synonym: "deafness, conductive, with stapes fixation" RELATED [OMIM:304400] synonym: "deafness, mixed, with perilymphatic gusher" RELATED [OMIM:304400] synonym: "deafness, X-linked 2" RELATED [MONDO:Lexical, OMIM:304400] synonym: "deafness, X-linked 2, X-linked recessive" NARROW [OMIM:304400, OMIM:genemap2] synonym: "deafness, X-linked type 2" NARROW [MONDORULE:1, OMIM:304400] synonym: "DFN 3 nonsyndromic hearing loss and deafness" RELATED [GARD:0004504] synonym: "DFN3" RELATED ABBREVIATION [GARD:0004504] synonym: "DFNX2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:304400, Orphanet:383] synonym: "gusher syndrome" RELATED [GARD:0004504] synonym: "high frequency deafness" BROAD [DOID:10003] synonym: "high frequency hearing loss" BROAD [DOID:10003, NCIT:C34663] synonym: "high-frequency hearing loss" BROAD [DOID:10003] synonym: "Nance deafness" NARROW [OMIM:304400, Orphanet:383] synonym: "perceptive deafness" BROAD [DOID:10003] synonym: "perceptive hearing loss" BROAD [DOID:10003] synonym: "perceptive hearing loss or deafness" BROAD [DOID:10003] synonym: "perilymphatic gusher-deafness syndrome" RELATED [OMIM:304400] synonym: "sensorineural deafness" BROAD [DOID:10003, NCIT:C26739] synonym: "sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental Abnormality of the Ear" RELATED [OMIM:304400] synonym: "sensorineural hearing loss" BROAD [MONDO:ambiguous] synonym: "sensory hearing loss" BROAD [DOID:10003, ICD9CM:389.11] synonym: "X-linked deafness type 2" NARROW [Orphanet:383] synonym: "X-linked mixed conductive and neurosensory deafness" NARROW [Orphanet:383] synonym: "X-linked mixed conductive and neurosensory hearing loss" EXACT [Orphanet:383] synonym: "X-linked mixed conductive and sensorineural deafness" NARROW [Orphanet:383] synonym: "X-linked mixed conductive and sensorineural hearing loss" EXACT [Orphanet:383] synonym: "X-linked mixed deafness with perilymphatic gusher" NARROW [OMIM:304400] synonym: "X-linked stapes gusher syndrome" EXACT [Orphanet:383] xref: DOID:0111737 {source="MONDO:equivalentTo"} xref: DOID:10003 {source="EFO:1001176", source="MONDO:relatedTo"} xref: EFO:1001176 {source="MONDO:equivalentTo"} xref: ICD9:389.1 {source="EFO:1001176", source="DOID:10003"} xref: ICD9:389.10 {source="DOID:10003"} xref: ICD9:389.14 {source="DOID:10003"} xref: MedDRA:10040016 {source="EFO:1001176"} xref: OMIM:304400 {source="Orphanet:383/e", source="MONDO:equivalentTo", source="Orphanet:383", source="DOID:10003"} xref: Orphanet:383 {source="MONDO:equivalentObsolete", source="OMIM:304400"} xref: UMLS:C1844678 {source="OMIM:304400", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:383"} is_a: EFO:0009672 {source="DOID:10003"} ! inner ear disease is_a: MONDO:0018751 ! hereditary otorhinolaryngologic disease is_a: MONDO:0019586 {source="DC-OMIM:304400", source="OMIM:304400"} ! X-linked nonsyndromic hearing loss property_value: closeMatch http://identifiers.org/meddra/10040016 property_value: exactMatch DOID:0111737 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844678 property_value: exactMatch https://omim.org/entry/304400 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/551 xsd:anyURI [Term] id: MONDO:0010578 name: deafness dystonia syndrome def: "An X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." [Orphanet:52368] subset: clingen subset: ordo_disease {source="Orphanet:52368"} synonym: "DDON syndrome" EXACT [Orphanet:52368] synonym: "DDP" RELATED ABBREVIATION [GARD:0008331] synonym: "deafness - dystonia - optic neuronopathy syndrome" RELATED [GARD:0008331] synonym: "deafness dystonia optic atrophy syndrome" EXACT [DOID:0050757] synonym: "deafness dystonia optic neuronopathy syndrome" EXACT [DOID:0050757] synonym: "deafness dystonia optic neuronopathy syndrome (DDON)" EXACT [DOID:0050757] synonym: "deafness dystonia syndrome" EXACT [] synonym: "deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency" RELATED [OMIM:304700] synonym: "deafness-Dystonia-optic atrophy syndrome" RELATED [OMIM:304700] synonym: "deafness-dystonia-optic neuronopathy (DDON) syndrome" RELATED [GARD:0008331] synonym: "deafness-dystonia-optic neuronopathy syndrome" EXACT [Orphanet:52368] synonym: "dystonia deafness syndrome" EXACT [DOID:0050757] synonym: "dystonia-deafness syndrome" RELATED [OMIM:304700] synonym: "MOHR-Tranebjaerg syndrome" RELATED [MONDO:Lexical, OMIM:304700] synonym: "Mohr-Tranebjaerg syndrome" EXACT [DOID:0050757] synonym: "Mohr-Tranebjaerg syndrome, X-linked recessive" EXACT [OMIM:304700, OMIM:genemap2] synonym: "MTS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:304700] xref: DOID:0050757 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535808 {source="Orphanet:52368", source="MONDO:equivalentTo", source="Orphanet:52368/e"} xref: OMIM:304700 {source="Orphanet:52368", source="MONDO:equivalentTo", source="DOID:0050757", source="Orphanet:52368/e"} xref: Orphanet:52368 {source="MONDO:equivalentTo", source="OMIM:304700"} xref: SCTID:702423009 {source="MONDO:equivalentTo"} xref: UMLS:C0796074 {source="Orphanet:52368", source="MONDO:equivalentTo", source="OMIM:304700", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:52368/e"} is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:52368"} ! inherited neurodegenerative disorder property_value: exactMatch DOID:0050757 property_value: exactMatch http://identifiers.org/mesh/C535808 property_value: exactMatch http://identifiers.org/snomedct/702423009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796074 property_value: exactMatch https://omim.org/entry/304700 property_value: exactMatch Orphanet:52368 property_value: excluded_subClassOf MONDO:0016802 {source="Orphanet:52368"} property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:52368"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010579 name: X-linked corneal dermoid def: "X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders.No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission." [Orphanet:1661] subset: gard_rare subset: ordo_disease {source="Orphanet:1661"} synonym: "bilateral corneal dermoids" RELATED [MESH:C535376] synonym: "CND" RELATED ABBREVIATION [GARD:0002580, MESH:C535376, MONDO:Lexical, OMIM:304730] synonym: "corneal dermoids and short stature" RELATED [MESH:C535376] synonym: "corneal dystrophy epithelial-short stature syndrome" EXACT [Orphanet:1661] synonym: "dermoids of cornea" RELATED [MONDO:Lexical, OMIM:304730] synonym: "Guizar-Vazquez Luengas-Munoz syndrome" RELATED [MESH:C535376] synonym: "Guízar Vázquez-Luengas-muñoz syndrome" EXACT [Orphanet:1661] xref: MESH:C535376 {source="MONDO:equivalentTo"} xref: OMIM:304730 {source="Orphanet:1661", source="MONDO:equivalentTo", source="Orphanet:1661/e", source="GARD:0002580"} xref: Orphanet:1661 {source="OMIM:304730", source="MONDO:equivalentTo"} xref: SCTID:715426004 {source="MONDO:equivalentTo"} xref: UMLS:C1844671 {source="Orphanet:1661", source="OMIM:304730", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="GARD:0002580"} is_a: MONDO:0020215 {source="Orphanet:1661"} ! syndromic corneal dystrophy property_value: exactMatch http://identifiers.org/mesh/C535376 property_value: exactMatch http://identifiers.org/snomedct/715426004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844671 property_value: exactMatch https://omim.org/entry/304730 property_value: exactMatch Orphanet:1661 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2580/dermoids-of-cornea xsd:anyURI {source="GARD:0002580"} [Term] id: MONDO:0010580 name: immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome def: "Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections." [Orphanet:37042] subset: ordo_disease {source="Orphanet:37042"} synonym: "autoimmune enteropathy type 1" EXACT [DOID:0090110, Orphanet:37042] synonym: "autoimmunity-immunodeficiency syndrome X-linked" RELATED [GARD:0001850] synonym: "autoimmunity-immunodeficiency syndrome, X-linked" EXACT [DOID:0090110] synonym: "diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea" EXACT [DOID:0090110] synonym: "diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhoea" EXACT OMO:0003005 [] synonym: "diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked" EXACT [DOID:0090110] synonym: "DMSD" EXACT ABBREVIATION [DOID:0090110] synonym: "enteropathy, autoimmune, with hemolytic Anaemia and polyendocrinopathy" RELATED OMO:0003005 [] synonym: "enteropathy, autoimmune, with hemolytic Anemia and polyendocrinopathy" RELATED [OMIM:304790] synonym: "IDDM secretory diarrhea syndrome" RELATED [GARD:0001850] synonym: "IDDM secretory diarrhoea syndrome" RELATED OMO:0003005 [] synonym: "IDDM-secretory diarrhea syndrome" EXACT [DOID:0090110] synonym: "Iddm-secretory diarrhea syndrome" RELATED [OMIM:304790] synonym: "IDDM-secretory diarrhoea syndrome" EXACT OMO:0003005 [] synonym: "Iddm-secretory diarrhoea syndrome" RELATED OMO:0003005 [] synonym: "immune dysfunction and diarrhea syndrome" EXACT [NCIT:C131009] synonym: "immune dysfunction and diarrhoea syndrome" EXACT OMO:0003005 [] synonym: "immune dysregulation, polyendocrinopathy, and enteropathy X-linked syndrome" EXACT [NCIT:C131009] synonym: "immunodeficiency, polyendocrinopathy, and enteropathy, X-linked" EXACT [DOID:0090110] synonym: "immunodeficiency, polyendocrinopathy, and enteropathy, X-linked, formerly" RELATED [OMIM:304790] synonym: "Immunodysregulation, polyendocrinopathy and enteropathy X-linked" RELATED [GARD:0001850] synonym: "IMMUNODYSREGULATION, polyendocrinopathy, and enteropathy, X-linked" RELATED [MONDO:Lexical, OMIM:304790] synonym: "immunodysregulation, polyendocrinopathy, and enteropathy, X-linked" EXACT [DOID:0090110] synonym: "immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, X-linked recessive" EXACT [OMIM:304790, OMIM:genemap2] synonym: "IPEX" EXACT ABBREVIATION [DOID:0090110, MONDO:Lexical, OMIM:304790, Orphanet:37042] synonym: "IPEX syndrome" RELATED [GARD:0001850] synonym: "islets of Langerhans, absence of" RELATED [OMIM:304790] synonym: "polyendocrinopathy, immune dysfunction and diarrhea X-linked" RELATED [GARD:0001850] synonym: "polyendocrinopathy, immune dysfunction and diarrhoea X-linked" RELATED OMO:0003005 [] synonym: "polyendocrinopathy, immune dysfunction, and diarrhea, X-linked" RELATED [OMIM:304790] synonym: "X linked polyendocrinopathy" EXACT [NCIT:C131009] synonym: "X-linked autoimmunity-allergic dysregulation syndrome" EXACT [DOID:0090110, OMIM:304790] synonym: "XLAAD" EXACT ABBREVIATION [DOID:0090110] synonym: "XPID" EXACT ABBREVIATION [DOID:0090110] xref: DOID:0090110 {source="MONDO:equivalentTo"} xref: ICD10CM:E31.0 {source="DOID:0090110", source="Orphanet:37042", source="MONDO:directSiblingOf", source="Orphanet:37042/attributed", source="Orphanet:37042/ntbt"} xref: ICD9:250.81 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C580192 {source="MONDO:equivalentTo"} xref: NCIT:C131009 {source="MONDO:equivalentTo"} xref: OMIM:304790 {source="DOID:0090110", source="MONDO:equivalentTo", source="Orphanet:37042", source="Orphanet:37042/e"} xref: Orphanet:37042 {source="DOID:0090110", source="MONDO:equivalentTo", source="OMIM:304790"} xref: SCTID:237618001 {source="MONDO:equivalentTo"} is_a: EFO:1002003 {source="DOID:0090110", source="MONDO:Redundant", source="MONDO:indirect"} ! hypersensitivity reaction disease is_a: MONDO:0000569 ! autoimmune disorder of endocrine system is_a: MONDO:0002254 {source="NCIT:C131009"} ! syndromic disease is_a: MONDO:0015126 {source="Orphanet:37042"} ! polyendocrinopathy is_a: MONDO:0019126 {source="Orphanet:37042"} ! intractable diarrhea of infancy is_a: MONDO:0019787 {source="Orphanet:37042"} ! autoimmune enteropathy property_value: exactMatch DOID:0090110 property_value: exactMatch http://identifiers.org/mesh/C580192 property_value: exactMatch http://identifiers.org/snomedct/237618001 property_value: exactMatch https://omim.org/entry/304790 property_value: exactMatch NCIT:C131009 property_value: exactMatch Orphanet:37042 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010584 name: dyskeratosis congenita, X-linked def: "X-linked form of dyskeratosis congenita." [MONDO:patterns/x_linked] synonym: "cerebellar hypoplasia with pancytopenia" RELATED [OMIM:305000] synonym: "DKCX" EXACT ABBREVIATION [DOID:0070025, GARD:0002007, MONDO:Lexical, OMIM:305000] synonym: "dyskeratosis congenita X-linked" RELATED [GARD:0002007] synonym: "dyskeratosis congenita, X-linked" EXACT [MONDO:Lexical, MONDO:patterns/x_linked, OMIM:305000] synonym: "dyskeratosis congenita, X-linked, X-linked recessive" EXACT [OMIM:305000, OMIM:genemap2] synonym: "Growth retardation, prenatal, with progressive pancytopenia and cerebellar hypoplasia" RELATED [OMIM:305000] synonym: "Hoyeraal Hreidarsson syndrome" EXACT [NCIT:C126352, OMIM:305000] synonym: "X-linked dyskeratosis congenita" EXACT [DOID:0070025, GARD:0002007] synonym: "Zinsser-Cole-Engman syndrome" EXACT [DOID:0070025, OMIM:305000] xref: DOID:0070025 {source="MONDO:equivalentTo"} xref: NCIT:C126352 {source="MONDO:equivalentTo"} xref: OMIM:305000 {source="DOID:0070025", source="MONDO:equivalentTo"} xref: SCTID:708536001 {source="MONDO:equivalentTo"} is_a: MONDO:0000425 ! X-linked disease is_a: MONDO:0100152 {source="https://clinicalgenome.org/affiliation/40006/"} ! DKC1-related disorder property_value: exactMatch DOID:0070025 property_value: exactMatch http://identifiers.org/snomedct/708536001 property_value: exactMatch https://omim.org/entry/305000 property_value: exactMatch NCIT:C126352 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010585 name: X-linked hypohidrotic ectodermal dysplasia def: "An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin." [MESH:D053358] subset: ordo_etiological_subtype {source="Orphanet:181"} synonym: "anhidrotic ectodermal dysplasia X-linked" RELATED [GARD:0010427] synonym: "Christ-Siemens-Touraine syndrome" EXACT [Orphanet:181] synonym: "CST syndrome" RELATED [OMIM:305100] synonym: "ectodermal dysplasia 1" RELATED [OMIM:305100] synonym: "ectodermal dysplasia 1, hypohidrotic, X-linked" RELATED [MONDO:Lexical, OMIM:305100] synonym: "ectodermal dysplasia 1, hypohidrotic, X-linked, X-linked recessive" EXACT [OMIM:305100, OMIM:genemap2] synonym: "ectodermal dysplasia 1, hypohidrotic/hair/Tooth type, X-linked" RELATED [OMIM:305100] synonym: "ectodermal dysplasia, anhidrotic, X-linked" RELATED [OMIM:305100] synonym: "ectodermal dysplasia, hypohidrotic, 1" RELATED [OMIM:305100] synonym: "Eda1" RELATED [OMIM:305100] synonym: "hypohidrotic ectodermal dysplasia X-linked" RELATED [GARD:0010427] synonym: "hypohidrotic ectodermal dysplasia, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "X-linked anhidrotic ectodermal dysplasia" EXACT [Orphanet:181] synonym: "X-linked hypohidrotic ectodermal dysplasia" EXACT [] synonym: "XHED" EXACT ABBREVIATION [MONDO:Lexical, OMIM:305100, Orphanet:181] synonym: "Xlhed" RELATED [OMIM:305100] xref: DOID:0111664 {source="MONDO:equivalentTo"} xref: OMIM:305100 {source="MONDO:equivalentTo", source="Orphanet:181", source="Orphanet:181/e"} xref: Orphanet:181 {source="OMIM:305100", source="MONDO:equivalentTo"} xref: SCTID:239007005 {source="MONDO:equivalentTo"} is_a: MONDO:0000425 ! X-linked disease is_a: MONDO:0016535 {source="MONDO:Redundant", source="Orphanet:181"} ! hypohidrotic ectodermal dysplasia property_value: exactMatch DOID:0111664 property_value: exactMatch http://identifiers.org/snomedct/239007005 property_value: exactMatch https://omim.org/entry/305100 property_value: exactMatch Orphanet:181 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4104 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010586 name: X-linked Ehlers-Danlos syndrome def: "Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. EDS type V is characterized by hyperextensible skin but tissue fragility and joint hyperlaxity are mild. This form of EDS is very rare and has been described in only two families so far. Other reported features include congenital heart disease, hernias and short stature. Transmission is X-linked recessive." [Orphanet:75497] subset: ordo_disease {source="Orphanet:75497"} synonym: "EDS 5" RELATED [OMIM:305200] synonym: "EDS V" EXACT [Orphanet:75497] synonym: "EDS5" RELATED ABBREVIATION [OMIM:305200] synonym: "Ehlers-Danlos syndrome type 5" EXACT [Orphanet:75497] synonym: "Ehlers-Danlos syndrome, type 5" RELATED [OMIM:305200] synonym: "Ehlers-Danlos syndrome, type V" RELATED [OMIM:305200] synonym: "Ehlers-Danlos syndrome, X-linked" EXACT [MONDO:patterns/x_linked] xref: MESH:C536197 {source="Orphanet:75497", source="MONDO:equivalentTo", source="Orphanet:75497/e"} xref: NCIT:C141423 {source="MONDO:equivalentTo"} xref: OMIM:305200 {source="Orphanet:75497", source="MONDO:equivalentObsolete", source="Orphanet:75497/e"} xref: Orphanet:75497 {source="OMIM:305200", source="MONDO:equivalentTo"} xref: SCTID:67202007 {source="MONDO:equivalentTo"} xref: UMLS:C0268341 {source="OMIM:305200", source="Orphanet:75497", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:75497/e"} is_a: MONDO:0000425 ! X-linked disease is_a: MONDO:0020066 {source="DC-OMIM:305200", source="MESH:C536197", source="MONDO:Redundant", source="NCIT:C141423", source="Orphanet:75497"} ! Ehlers-Danlos syndrome property_value: exactMatch http://identifiers.org/mesh/C536197 property_value: exactMatch http://identifiers.org/snomedct/67202007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268341 property_value: exactMatch NCIT:C141423 property_value: exactMatch Orphanet:75497 [Term] id: MONDO:0010589 name: Aarskog-Scott syndrome, X-linked def: "Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature." [Orphanet:915] synonym: "Aarskog disease" BROAD [MESH:C535331] synonym: "Aarskog Scott syndrome" RELATED [GARD:0004775] synonym: "Aarskog syndrome" BROAD [Orphanet:915] synonym: "Aarskog syndrome, X-linked" EXACT [OMIM:305400] synonym: "Aarskog-like syndrome" BROAD [MESH:C535331] synonym: "Aarskog-Scott syndrome" BROAD [MESH:C535331, MONDO:Lexical, OMIM:305400] synonym: "Aarskog-Scott syndrome, X-linked" EXACT [] synonym: "Aarskog-Scott syndrome, X-linked recessive" EXACT [OMIM:305400, OMIM:genemap2] synonym: "AAS" BROAD ABBREVIATION [MESH:C535331, MONDO:Lexical, OMIM:305400] synonym: "facio-digito-genital dysplasia" BROAD [MESH:C535331] synonym: "faciodigitogenital syndrome" BROAD [MESH:C535331, OMIM:305400, Orphanet:915] synonym: "faciodigitogenital syndrome, recessive" BROAD [MESH:C535331] synonym: "faciogenital dysplasia" BROAD [MESH:C535331, OMIM:305400, Orphanet:915] synonym: "faciogenital dysplasia with attention Deficit-hyperactivity disorder" RELATED [OMIM:305400] synonym: "FGD" BROAD ABBREVIATION [NCIT:C129720] synonym: "FGDY" BROAD ABBREVIATION [MESH:C535331] synonym: "mental retardation, X-linked syndromic 16, X-linked recessive" EXACT [OMIM:305400, OMIM:genemap2] synonym: "mental retardation, X-linked, syndromic 16" NARROW DEPRECATED [OMIM:305400] synonym: "mental retardation, X-linked, syndromic 16, included" NARROW DEPRECATED [MESH:C535331] synonym: "MRXS16, included" NARROW [MESH:C535331] synonym: "Scott Aarskog syndrome" BROAD [MESH:C535331] xref: DOID:6683 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10067148 {source="Orphanet:915"} xref: MESH:C535331 {source="MONDO:equivalentTo"} xref: NCIT:C129720 {source="MONDO:equivalentTo"} xref: OMIM:305400 {source="MONDO:equivalentTo", source="Orphanet:915"} xref: Orphanet:915 {source="MONDO:mondoIsNarrowerThanSource"} xref: SCTID:14921002 {source="MONDO:equivalentTo"} is_a: EFO:0009297 {source="OMIM:305400"} ! fg syndrome is_a: MONDO:0000425 {source="MESH:C535331", source="MONDO:Redundant"} ! X-linked disease is_a: MONDO:0019313 ! lymphatic malformation is_a: MONDO:0019520 {source="MONDO:Entailed", source="Orphanet:915"} ! syndromic lymphedema is_a: MONDO:0021005 ! faciodigitogenital syndrome property_value: closeMatch http://identifiers.org/meddra/10067148 property_value: exactMatch DOID:6683 property_value: exactMatch http://identifiers.org/mesh/C535331 property_value: exactMatch http://identifiers.org/snomedct/14921002 property_value: exactMatch https://omim.org/entry/305400 property_value: exactMatch NCIT:C129720 property_value: excluded_subClassOf MONDO:0015159 {source="Orphanet:915"} property_value: excluded_subClassOf MONDO:0015160 {source="Orphanet:915"} property_value: excluded_subClassOf MONDO:0020119 {source="OMIM:305400", source="Orphanet:915"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010591 name: fingerprint body myopathy def: "Fingerprint body myopathy is a congenital benign muscle disorder characterized by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission." [Orphanet:97232] subset: gard_rare {source="GARD:0012720"} subset: ordo_disease {source="Orphanet:97232"} synonym: "fingerprint body myopathy" EXACT [OMIM:305550] xref: MESH:C564425 {source="MONDO:equivalentTo"} xref: OMIM:305550 {source="Orphanet:97232/e", source="MONDO:equivalentTo", source="Orphanet:97232"} xref: Orphanet:97232 {source="MONDO:equivalentTo", source="OMIM:305550"} xref: UMLS:C1844560 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:305550", source="Orphanet:97232"} is_a: MONDO:0019952 {source="Orphanet:97232"} ! congenital myopathy property_value: exactMatch http://identifiers.org/mesh/C564425 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844560 property_value: exactMatch https://omim.org/entry/305550 property_value: exactMatch Orphanet:97232 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12720/fingerprint-body-myopathy xsd:anyURI {source="GARD:0012720"} [Term] id: MONDO:0010592 name: focal dermal hypoplasia def: "A syndrome characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems." [Orphanet:2092] subset: ordo_malformation_syndrome {source="Orphanet:2092"} synonym: "DHOF" RELATED ABBREVIATION [GARD:0006457] synonym: "FDH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:305600] synonym: "focal dermal hypoplasia" EXACT [MONDO:Lexical, OMIM:305600] synonym: "focal dermal hypoplasia, X-linked dominant" EXACT [OMIM:305600, OMIM:genemap2] synonym: "Fodh" RELATED [OMIM:305600] synonym: "Goltz Gorlin syndrome" RELATED [GARD:0006457] synonym: "Goltz syndrome" EXACT [DOID:2120, OMIM:305600, Orphanet:2092] synonym: "Goltz-Gorlin syndrome" EXACT [OMIM:305600, Orphanet:2092] xref: DOID:2120 {source="MONDO:equivalentTo"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D005489 {source="DOID:2120", source="MONDO:equivalentTo", source="Orphanet:2092", source="Orphanet:2092/e"} xref: NCIT:C84715 {source="DOID:2120", source="MONDO:equivalentTo"} xref: OMIM:305600 {source="DOID:2120", source="MONDO:equivalentTo", source="Orphanet:2092", source="Orphanet:2092/e"} xref: Orphanet:2092 {source="OMIM:305600", source="MONDO:equivalentTo"} xref: SCTID:205573006 {source="DOID:2120", source="MONDO:equivalentTo"} xref: UMLS:C0016395 {source="DOID:2120", source="NCIT:C84715", source="OMIM:305600", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2092", source="Orphanet:2092/e"} is_a: MONDO:0019755 ! developmental defect during embryogenesis is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch DOID:2120 property_value: exactMatch http://identifiers.org/mesh/D005489 property_value: exactMatch http://identifiers.org/snomedct/205573006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016395 property_value: exactMatch https://omim.org/entry/305600 property_value: exactMatch NCIT:C84715 property_value: exactMatch Orphanet:2092 property_value: excluded_subClassOf MONDO:0003900 property_value: excluded_subClassOf MONDO:0005328 property_value: excluded_subClassOf MONDO:0015160 {source="Orphanet:2092"} property_value: excluded_subClassOf MONDO:0019287 {source="MESH:D005489", source="Orphanet:2092"} property_value: excluded_subClassOf MONDO:0019294 {source="Orphanet:2092"} property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:2092"} property_value: excluded_subClassOf MONDO:0020237 {source="Orphanet:2092"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010602 name: hemophilia A def: "The most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency." [Orphanet:98878] subset: ordo_disease {source="Orphanet:98878"} synonym: "autosomal haemophilia a" RELATED OMO:0003005 [] synonym: "autosomal hemophilia a" RELATED [OMIM:134500] synonym: "classic haemophilia" RELATED OMO:0003005 [] synonym: "classic hemophilia" RELATED [GARD:0006591] synonym: "classical haemophilia" RELATED OMO:0003005 [] synonym: "classical hemophilia" RELATED [GARD:0006591] synonym: "congenital factor VIII disorder" EXACT [DOID:12134, ICD9CM:286.0] synonym: "factor 8 deficiency" RELATED [GARD:0006591, OMIM:134500] synonym: "factor VIII deficiency" EXACT [MONDO:0007596, Orphanet:98878] synonym: "Haemophilia A" RELATED [GARD:0006591] synonym: "haemophilia A, congenital" RELATED OMO:0003005 [] synonym: "haemophilia a, X-linked recessive" EXACT OMO:0003005 [] synonym: "haemophilia type A" EXACT OMO:0003005 [] synonym: "haemophilia type a" EXACT OMO:0003005 [] synonym: "hem A" RELATED [GARD:0006591] synonym: "HEMA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:306700] synonym: "hemophilia A" EXACT [DOID:12134, MONDO:Lexical, OMIM:306700] synonym: "hemophilia A, congenital" RELATED [GARD:0006591] synonym: "hemophilia a, X-linked recessive" EXACT [OMIM:306700, OMIM:genemap2] synonym: "hemophilia type A" EXACT [MONDORULE:1, Orphanet:98878] synonym: "hemophilia type a" EXACT [MONDORULE:1, OMIM:306700] synonym: "hemophilia, classic" RELATED [OMIM:306700] synonym: "hereditary Factor VIII deficiency" EXACT [NCIT:C27146] synonym: "hereditary Factor VIII deficiency disease" EXACT [NCIT:C27146] synonym: "Subhemophilia" EXACT [DOID:12134] xref: DOID:0111823 {source="MONDO:mondoIsBroaderThanSource"} xref: DOID:12134 {source="MONDO:equivalentTo", source="EFO:0007267"} xref: EFO:0007267 {source="MONDO:equivalentTo"} xref: ICD9:286.0 {source="DOID:12134"} xref: MedDRA:10016080 {source="Orphanet:98878", source="Orphanet:98878/e"} xref: MESH:D006467 {source="MONDO:equivalentTo", source="Orphanet:98878", source="DOID:12134", source="Orphanet:98878/e", source="EFO:0007267"} xref: NCIT:C27146 {source="MONDO:equivalentTo", source="DOID:12134"} xref: OMIM:134500 {source="MONDO:equivalentTo", source="DOID:12134"} xref: OMIM:306700 {source="MONDO:equivalentTo", source="Orphanet:98878", source="Orphanet:98878/e"} xref: Orphanet:98878 {source="OMIM:306700", source="MONDO:equivalentTo"} xref: SCTID:234440005 {source="MONDO:equivalentTo"} xref: UMLS:C0019069 {source="NCIT:C27146", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:98878", source="OMIM:134500", source="DOID:12134", source="Orphanet:98878/e"} xref: UMLS:CN239112 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000425 {source="DOID:12134"} ! X-linked disease is_a: MONDO:0002243 {source="MESH:D006467"} ! hemorrhagic disease is_a: MONDO:0018660 {source="EFO:0007267", source="NCIT:C27146", source="Orphanet:98878"} ! hemophilia is_a: MONDO:0021181 {source="MESH:D006467", source="MONDO:Redundant"} ! inherited blood coagulation disorder property_value: closeMatch http://identifiers.org/meddra/10016080 property_value: exactMatch DOID:12134 property_value: exactMatch http://identifiers.org/mesh/D006467 property_value: exactMatch http://identifiers.org/snomedct/234440005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019069 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239112 property_value: exactMatch https://omim.org/entry/134500 property_value: exactMatch https://omim.org/entry/306700 property_value: exactMatch NCIT:C27146 property_value: exactMatch Orphanet:98878 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: narrowMatch DOID:0111823 [Term] id: MONDO:0010604 name: hemophilia B def: "Hemophilia B is a form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency." [Orphanet:98879] subset: gard_rare {source="GARD:0008732"} subset: ordo_disease {source="Orphanet:98879"} synonym: "Christmas disease" EXACT [OMIM:306900, Orphanet:98879] synonym: "congenital factor IX deficiency" EXACT [DOID:12259] synonym: "congenital factor IX disorder" EXACT [DOID:12259, ICD9CM:286.1] synonym: "deficiency, functional factor IX" EXACT [DOID:12259] synonym: "F9 deficiency" RELATED [OMIM:306900] synonym: "factor 9 deficiency" RELATED [OMIM:306900] synonym: "factor IX deficiency" EXACT [DOID:12259, Orphanet:98879] synonym: "haemophilia B Leyden" RELATED OMO:0003005 [] synonym: "haemophilia B(M)" RELATED OMO:0003005 [] synonym: "haemophilia b, X-linked recessive" EXACT OMO:0003005 [] synonym: "haemophilia type B" EXACT OMO:0003005 [] synonym: "hem B" RELATED [GARD:0008732] synonym: "HEMB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:306900] synonym: "hemophilia B" EXACT [MONDO:Lexical, OMIM:306900] synonym: "hemophilia B Leyden" RELATED [OMIM:306900] synonym: "hemophilia B(M)" RELATED [OMIM:306900] synonym: "hemophilia b, X-linked recessive" EXACT [OMIM:306900, OMIM:genemap2] synonym: "hemophilia type B" EXACT [DOID:12259, MONDORULE:1, OMIM:306900, Orphanet:98879] synonym: "hereditary Factor IX deficiency" EXACT [NCIT:C26721] synonym: "hereditary Factor IX deficiency disease" EXACT [NCIT:C26721] synonym: "plasma thromboplastin component deficiency" RELATED [OMIM:306900] xref: DOID:12259 {source="MONDO:equivalentTo"} xref: EFO:0009154 {source="MONDO:equivalentTo"} xref: ICD9:286.1 {source="DOID:12259", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10016077 {source="Orphanet:98879", source="Orphanet:98879/e"} xref: MESH:D002836 {source="DOID:12259", source="MONDO:equivalentTo", source="Orphanet:98879", source="Orphanet:98879/e"} xref: NCIT:C26721 {source="DOID:12259", source="MONDO:equivalentTo"} xref: OMIM:306900 {source="DOID:12259", source="MONDO:equivalentTo", source="Orphanet:98879", source="Orphanet:98879/e"} xref: Orphanet:98879 {source="MONDO:equivalentTo", source="OMIM:306900"} xref: SCTID:41788008 {source="DOID:12259", source="MONDO:equivalentTo"} xref: UMLS:C0008533 {source="DOID:12259", source="MONDO:equivalentTo", source="OMIM:306900", source="Orphanet:98879", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C26721", source="Orphanet:98879/e"} is_a: MONDO:0002243 {source="MESH:D002836"} ! hemorrhagic disease is_a: MONDO:0018660 {source="NCIT:C26721", source="Orphanet:98879"} ! hemophilia property_value: closeMatch http://identifiers.org/meddra/10016077 property_value: exactMatch DOID:12259 property_value: exactMatch http://identifiers.org/mesh/D002836 property_value: exactMatch http://identifiers.org/snomedct/41788008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008533 property_value: exactMatch https://omim.org/entry/306900 property_value: exactMatch NCIT:C26721 property_value: exactMatch Orphanet:98879 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8732/hemophilia-b xsd:anyURI {source="GARD:0008732"} [Term] id: MONDO:0010611 name: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius def: "A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis." [https://rarediseases.info.nih.gov/diseases/434/hydrocephalus-due-to-congenital-stenosis-of-aqueduct-of-sylvius, https://www.ncbi.nlm.nih.gov/books/NBK1484/, MONDO:cjm, Orphanet:2182] subset: ordo_clinical_subtype {source="Orphanet:2182"} synonym: "aqueductal stenosis, X-linked" RELATED [OMIM:307000] synonym: "Bickers-Adams syndrome" EXACT [Orphanet:2182] synonym: "HSAS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:307000, Orphanet:2182] synonym: "HSAS1" RELATED ABBREVIATION [OMIM:307000] synonym: "HYCX" RELATED ABBREVIATION [GARD:0000434] synonym: "hydrocephalus due to aqueductal stenosis, X-linked recessive" EXACT [OMIM:307000, OMIM:genemap2] synonym: "hydrocephalus due to congenital stenosis of aqueduct of Sylvius" RELATED [MONDO:Lexical, OMIM:307000] synonym: "hydrocephalus with congenital idiopathic intestinal pseudoobstruction, X-linked recessive" EXACT [OMIM:307000, OMIM:genemap2] synonym: "hydrocephalus with hirschsprung disease, X-linked recessive" EXACT [OMIM:307000, OMIM:genemap2] synonym: "hydrocephalus with stenosis of the aqueduct of Sylvius" EXACT [Orphanet:2182] synonym: "hydrocephalus, X-linked" RELATED [OMIM:307000] synonym: "hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction" RELATED [OMIM:307000] synonym: "X-linked acqueductal stenosis" EXACT [Orphanet:2182] synonym: "X-linked HSAS" EXACT [Orphanet:2182] synonym: "X-linked hydrocephalus" EXACT [Orphanet:2182] synonym: "X-linked hydrocephalus with stenosis of aqueduct of Sylvius" EXACT [Orphanet:2182] synonym: "X-linked hydrocephalus with stenosis of the aqueduct of Sylvius" EXACT [] synonym: "XLAS" RELATED ABBREVIATION [GARD:0000434] xref: MESH:C536078 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: OMIM:307000 {source="Orphanet:2182/e", source="MONDO:equivalentTo", source="Orphanet:2182"} xref: Orphanet:2182 {source="MONDO:equivalentTo", source="OMIM:307000"} xref: SCTID:71779008 {source="MONDO:equivalentTo"} is_a: MONDO:0000425 ! X-linked disease is_a: MONDO:0016349 ! congenital hydrocephalus is_a: MONDO:0017140 {source="Orphanet:2182", source="https://www.ncbi.nlm.nih.gov/books/NBK1484/"} ! L1 syndrome property_value: exactMatch http://identifiers.org/mesh/C536078 property_value: exactMatch http://identifiers.org/snomedct/71779008 property_value: exactMatch https://omim.org/entry/307000 property_value: exactMatch Orphanet:2182 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010612 name: hydrocephaly-cerebellar agenesis syndrome def: "This syndrome is characterized by infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy was also reported." [Orphanet:1397] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1397"} synonym: "cerebellum agenesis hydrocephaly" RELATED [GARD:0001200] synonym: "hydrocephalus with cerebellar agenesis" RELATED [GARD:0001200, OMIM:307010] synonym: "X-linked hydrocephalus-cerebellar agenesis-intellectual disability syndrome" EXACT [Orphanet:1397] xref: MESH:C564407 {source="MONDO:equivalentTo"} xref: OMIM:307010 {source="GARD:0001200", source="Orphanet:1397", source="MONDO:equivalentTo", source="Orphanet:1397/e"} xref: Orphanet:1397 {source="GARD:0001200", source="MONDO:equivalentTo", source="OMIM:307010"} xref: UMLS:C1844005 {source="Orphanet:1397", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:307010"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: exactMatch http://identifiers.org/mesh/C564407 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844005 property_value: exactMatch https://omim.org/entry/307010 property_value: exactMatch Orphanet:1397 property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:1397"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1200/cerebellum-agenesis-hydrocephaly xsd:anyURI {source="GARD:0001200"} [Term] id: MONDO:0010613 name: inborn glycerol kinase deficiency def: "An acquired metabolic disease that has its basis in the disruption of glycerol kinase activity." [MONDO:patterns/inborn_metabolic] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:308993"} synonym: "GK deficiency" RELATED [OMIM:307030] synonym: "GK1 deficiency" RELATED [OMIM:307030] synonym: "GKD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:307030] synonym: "glycerol kinase deficiency" EXACT [MONDO:0017702, MONDO:Lexical, OMIM:307030] synonym: "glycerol kinase deficiency, X-linked recessive" EXACT [OMIM:307030, OMIM:genemap2] synonym: "hyperglycerolemia" RELATED [OMIM:307030] synonym: "inborn error of glycerol kinase activity" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn glycerol kinase activity disorder" EXACT [] synonym: "rare inborn error of glycerol kinase activity" EXACT [MONDO:patterns/inborn_metabolic] xref: DOID:0060363 {source="MONDO:equivalentTo"} xref: OMIM:307030 {source="DOID:0060363", source="MONDO:equivalentTo"} xref: Orphanet:308993 {source="MONDO:equivalentTo"} xref: SCTID:124322002 {source="MONDO:equivalentTo"} is_a: MONDO:0019227 {source="Orphanet:308993"} ! inborn disorder of glycerol metabolism property_value: exactMatch DOID:0060363 property_value: exactMatch http://identifiers.org/snomedct/124322002 property_value: exactMatch https://omim.org/entry/307030 property_value: exactMatch Orphanet:308993 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5373 xsd:string [Term] id: MONDO:0010614 name: X-linked congenital generalized hypertrichosis def: "X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness." [Orphanet:79495] subset: gard_rare {source="GARD:0002863"} subset: ordo_clinical_subtype {source="Orphanet:79495"} synonym: "Cgh" RELATED [OMIM:307150] synonym: "chromosome Xq27.1 Interchromosomal insertion syndrome" RELATED [OMIM:307150] synonym: "chromosome Xq27.1 interchromosomal insertion syndrome" RELATED [GARD:0002863] synonym: "congenital generalised hypertrichosis, Macias-Flores type" EXACT OMO:0003005 [] synonym: "congenital generalized hypertrichosis, Macias-Flores type" EXACT [Orphanet:79495] synonym: "hCG" RELATED [OMIM:307150] synonym: "HTC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:307150] synonym: "hypertrichosis congenital generalised X-linked" RELATED OMO:0003005 [] synonym: "hypertrichosis congenital generalized X-linked" RELATED [GARD:0002863] synonym: "hypertrichosis, congenital generalised" RELATED OMO:0003005 [] synonym: "hypertrichosis, congenital generalized" RELATED [MONDO:Lexical, OMIM:307150] synonym: "hypertrichosis, congenital generalized, X-linked dominant" EXACT [OMIM:307150, OMIM:genemap2] synonym: "Macias Flores-Garcia Cruz-Rivera syndrome" EXACT [Orphanet:79495] synonym: "Macias-Flores Garcia-Cruz Rivera syndrome" RELATED [GARD:0002863] xref: MESH:C538388 {source="Orphanet:79495/e", source="MONDO:equivalentTo", source="Orphanet:79495"} xref: OMIM:307150 {source="Orphanet:79495/e", source="MONDO:equivalentTo", source="Orphanet:79495"} xref: Orphanet:79495 {source="MONDO:equivalentTo", source="OMIM:307150"} is_a: MONDO:0016381 {source="Orphanet:79495"} ! hypertrichosis lanuginosa congenita relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch http://identifiers.org/mesh/C538388 property_value: exactMatch https://omim.org/entry/307150 property_value: exactMatch Orphanet:79495 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2863/x-linked-congenital-generalized-hypertrichosis xsd:anyURI {source="GARD:0002863"} [Term] id: MONDO:0010615 name: isolated growth hormone deficiency type III subset: gard_rare {source="GARD:0003921"} subset: ordo_clinical_subtype {source="Orphanet:231692"} synonym: "agammaglobulinemia and isolated Growth hormone deficiency, X-linked" RELATED [OMIM:307200] synonym: "congenital IGHD type III" EXACT [DOID:0060875, Orphanet:231692] synonym: "congenital isolated GH deficiency type III" EXACT [DOID:0060875, Orphanet:231692] synonym: "congenital isolated growth hormone deficiency type III" EXACT [DOID:0060875, Orphanet:231692] synonym: "Fleisher syndrome" EXACT [DOID:0060875, OMIM:307200] synonym: "Growth hormone deficiency with hypogammaglobulinemia" RELATED [OMIM:307200] synonym: "growth hormone deficiency with hypogammaglobulinemia" EXACT [DOID:0060875] synonym: "hypogammaglobulinemia and isolated Growth hormone deficiency, X-linked" RELATED [OMIM:307200] synonym: "IGHD 3" RELATED [OMIM:307200] synonym: "IGHD III" EXACT [DOID:0060875] synonym: "IGHD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:307200] synonym: "isolated growth hormone deficiency type 3" RELATED [GARD:0003921] synonym: "isolated growth hormone deficiency type III" EXACT [] synonym: "isolated growth hormone deficiency, type 3" RELATED [OMIM:307200] synonym: "isolated growth hormone deficiency, type III" RELATED [MONDO:Lexical, OMIM:307200] synonym: "isolated growth hormone deficiency, type IIi, with agammaglobulinemia, X-linked recessive" EXACT [OMIM:307200, OMIM:genemap2] synonym: "X-linked agammaglobulinemia and isolated growth hormone deficiency" EXACT [DOID:0060875] synonym: "X-linked hypogammaglobulinemia and isolated growth hormone deficiency" EXACT [DOID:0060875] synonym: "X-linked IGHD" EXACT [DOID:0060875, Orphanet:231692] synonym: "X-linked isolated growth hormone deficiency" EXACT [DOID:0060875, Orphanet:231692] xref: DOID:0060875 {source="MONDO:equivalentTo"} xref: MESH:C537149 {source="MONDO:equivalentTo"} xref: OMIM:307200 {source="Orphanet:231692", source="Orphanet:231692/btnt", source="DOID:0060875", source="MONDO:equivalentTo"} xref: Orphanet:231692 {source="DOID:0060875", source="MONDO:equivalentTo", source="OMIM:307200"} xref: SCTID:234533006 {source="MONDO:equivalentTo"} is_a: MONDO:0000050 {source="DC-OMIM:307200", source="DOID:0060875", source="Orphanet:231692"} ! isolated congenital growth hormone deficiency property_value: exactMatch DOID:0060875 property_value: exactMatch http://identifiers.org/mesh/C537149 property_value: exactMatch http://identifiers.org/snomedct/234533006 property_value: exactMatch https://omim.org/entry/307200 property_value: exactMatch Orphanet:231692 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3921/isolated-growth-hormone-deficiency-type-3 xsd:anyURI {source="GARD:0003921"} [Term] id: MONDO:0010617 name: male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome def: "This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus." [Orphanet:2234] subset: ordo_malformation_syndrome {source="Orphanet:2234"} synonym: "hypogonadism, MALE, with intellectual disability and skeletal anomalies" RELATED [OMIM:307500] synonym: "hypogonadism, MALE, with mental retardation and skeletal anomalies" RELATED DEPRECATED [OMIM:307500] synonym: "Sohval-Soffer syndrome" EXACT [Orphanet:2234] xref: MESH:C564406 {source="MONDO:equivalentTo"} xref: OMIM:307500 {source="Orphanet:2234", source="MONDO:equivalentTo", source="Orphanet:2234/e"} xref: Orphanet:2234 {source="OMIM:307500", source="MONDO:equivalentTo"} xref: SCTID:722459008 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:2234"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C564406 property_value: exactMatch http://identifiers.org/snomedct/722459008 property_value: exactMatch https://omim.org/entry/307500 property_value: exactMatch Orphanet:2234 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2234"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010618 name: familial isolated hypoparathyroidism due to agenesis of parathyroid gland def: "Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis)." [NCIT:C131079] subset: ordo_clinical_subtype {source="Orphanet:2239"} synonym: "hypoparathyroidism, X-linked" RELATED [MONDO:Lexical, OMIM:307700] synonym: "HYPX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:307700] synonym: "parathyroid glands, agenesis of" RELATED [OMIM:307700] synonym: "X-linked hypoparathyroidism" EXACT [NCIT:C131079] xref: DOID:0111388 {source="MONDO:equivalentTo"} xref: MESH:C563238 {source="MONDO:equivalentTo"} xref: NCIT:C131079 {source="MONDO:equivalentTo"} xref: OMIM:307700 {source="MONDO:equivalentTo", source="Orphanet:2239", source="Orphanet:2239/e"} xref: Orphanet:2239 {source="OMIM:307700", source="MONDO:equivalentTo"} xref: UMLS:CN201292 {source="MONDO:equivalentTo"} is_a: MONDO:0007796 ! hypoparathyroidism, familial isolated 1 property_value: exactMatch DOID:0111388 property_value: exactMatch http://identifiers.org/mesh/C563238 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201292 property_value: exactMatch https://omim.org/entry/307700 property_value: exactMatch NCIT:C131079 property_value: exactMatch Orphanet:2239 [Term] id: MONDO:0010619 name: X-linked dominant hypophosphatemic rickets def: "X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth." [Orphanet:89936] subset: ordo_disease {source="Orphanet:89936"} synonym: "hereditary hypophosphatemic rickets, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "HPDR" RELATED ABBREVIATION [GARD:0012943] synonym: "HYP" RELATED ABBREVIATION [OMIM:307800] synonym: "hypophophatemia, X-linked" RELATED [GARD:0012943] synonym: "hypophophatemic vitamin D-resistant rickets" RELATED [GARD:0012943] synonym: "hypophosphatemia, vitamin D-resistant rickets" EXACT [DOID:0050445] synonym: "hypophosphatemia, X-linked" RELATED [OMIM:307800] synonym: "hypophosphatemic rickets X-linked dominant" EXACT [DOID:0050445] synonym: "hypophosphatemic rickets, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "hypophosphatemic rickets, X-linked dominant" RELATED [MONDO:Lexical, OMIM:307800] synonym: "hypophosphatemic rickets, X-linked dominant, X-linked dominant" EXACT [OMIM:307800, OMIM:genemap2] synonym: "hypophosphatemic vitamin D-resistant rickets" RELATED [OMIM:307800] synonym: "rickets, vitamin D-resistant" EXACT [DOID:0050445] synonym: "vitamin D-resistant rickets, X-linked" EXACT [DOID:0050445, OMIM:307800] synonym: "X-linked dominant hypophosphatemic rickets" EXACT [] synonym: "X-linked hereditary hypophosphatemic rickets" EXACT [MONDO:design_pattern] synonym: "X-linked hypophosphatemia" BROAD [DOID:0050445] synonym: "X-linked hypophosphatemic rickets" BROAD [Orphanet:89936] synonym: "XLH" EXACT ABBREVIATION [Orphanet:89936] synonym: "XLHR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:307800] xref: DOID:0050445 {source="MONDO:equivalentTo"} xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="Orphanet:89936", source="Orphanet:89936/attributed", source="Orphanet:89936/ntbt"} xref: MESH:D053098 {source="MONDO:relatedTo", source="DOID:0050445"} xref: NCIT:C123265 {source="MONDO:relatedTo"} xref: NCIT:C85234 {source="DOID:0050445", source="MONDO:equivalentTo"} xref: OMIM:307800 {source="DOID:0050445", source="MONDO:equivalentTo", source="Orphanet:89936", source="Orphanet:89936/e"} xref: Orphanet:89936 {source="OMIM:307800", source="MONDO:equivalentTo"} xref: SCTID:82236004 {source="MONDO:equivalentTo"} is_a: MONDO:0020604 ! X-linked dominant disease is_a: MONDO:0020720 ! X-linked hypophosphatemic rickets is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder property_value: exactMatch DOID:0050445 property_value: exactMatch http://identifiers.org/snomedct/82236004 property_value: exactMatch https://omim.org/entry/307800 property_value: exactMatch NCIT:C85234 property_value: exactMatch Orphanet:89936 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2844 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: relatedMatch NCIT:C123265 [Term] id: MONDO:0010621 name: CHILD syndrome def: "CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." [Orphanet:139] subset: gard_rare {source="GARD:0006039"} subset: ordo_disease {source="Orphanet:139"} synonym: "child nevus" EXACT [Orphanet:139] synonym: "CHILD syndrome" EXACT [] synonym: "child syndrome" EXACT [OMIM:308050] synonym: "CHILD syndrome, X-linked dominant" EXACT [OMIM:308050, OMIM:genemap2] synonym: "congenital hemidysplasia with ichthyosiform erythroderma and limb defects" RELATED [OMIM:308050] synonym: "congenital hemidysplasia with ichthyosiform nevus and limb defects" RELATED [GARD:0006039] synonym: "congenital hemidysplasia with ichthyosiform nevus and limbs defects" EXACT [Orphanet:139] synonym: "ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs" RELATED [OMIM:308050] synonym: "ichthyosis, child syndrome" RELATED [GARD:0006039] xref: DOID:0111822 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562515 {source="MONDO:equivalentTo"} xref: OMIM:308050 {source="Orphanet:139", source="MONDO:equivalentTo", source="Orphanet:139/e"} xref: Orphanet:139 {source="MONDO:equivalentTo", source="OMIM:308050"} xref: SCTID:17608003 {source="MONDO:equivalentTo"} xref: UMLS:C0265267 {source="Orphanet:139", source="MONDO:equivalentTo", source="OMIM:308050", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:139/e"} is_a: EFO:0009675 {source="Orphanet:139"} ! melanocytic nevus is_a: MONDO:0000631 ! bone benign neoplasm is_a: MONDO:0010556 ! X-linked chondrodysplasia punctata is_a: MONDO:0015161 {source="Orphanet:139"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015905 ! syndromic dyslipidemia is_a: MONDO:0015950 ! inherited skin tumor is_a: MONDO:0017269 {source="MONDO:Redundant", source="Orphanet:139"} ! X-linked ichthyosis syndrome is_a: MONDO:0023603 ! hereditary disorder of connective tissue property_value: exactMatch DOID:0111822 property_value: exactMatch http://identifiers.org/mesh/C562515 property_value: exactMatch http://identifiers.org/snomedct/17608003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265267 property_value: exactMatch https://omim.org/entry/308050 property_value: exactMatch Orphanet:139 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6039/child-syndrome xsd:anyURI {source="GARD:0006039"} [Term] id: MONDO:0010622 name: recessive X-linked ichthyosis def: "A genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin." [Orphanet:461] comment: There are both syndromic and non-syndromic forms of this disease (PMID:20643494). subset: ordo_disease {source="Orphanet:461"} synonym: "ichthyosis (disease), X-linked" EXACT [MONDO:patterns/x_linked] synonym: "ichthyosis , X-linked, X-linked recessive" EXACT [OMIM:308100, OMIM:genemap2] synonym: "ichthyosis, X-linked" RELATED [MONDO:Lexical, OMIM:308100] synonym: "ichthyosis, X-linked, complicated" RELATED [OMIM:308100] synonym: "placental steroid sulfatase deficiency" RELATED [OMIM:308100] synonym: "recessive X-linked ichthyosis" EXACT [] synonym: "RXLI" EXACT ABBREVIATION [Orphanet:461] synonym: "SSDD" RELATED ABBREVIATION [GARD:0007904] synonym: "steroid sulfatase deficiency" EXACT [DECIPHER:27, OMIM:308100, Orphanet:461] synonym: "steroid sulfatase deficiency disease" RELATED [OMIM:308100] synonym: "STS deficiency" RELATED [OMIM:308100] synonym: "X linked ichthyosis" RELATED [GARD:0007904] synonym: "X-linked ichthyosis" EXACT [Orphanet:461] synonym: "X-linked ichthyosis with steryl-sulphatase deficiency" EXACT [DOID:1700] synonym: "X-linked placental steryl-sulphatase deficiency" EXACT [DOID:1700] synonym: "X-linked recessive ichthyosis" EXACT [DOID:1700] synonym: "XLI" EXACT ABBREVIATION [MONDO:Lexical, OMIM:308100, Orphanet:461] xref: DECIPHER:27 {source="MONDO:equivalentTo"} xref: DOID:1700 {source="MONDO:equivalentTo"} xref: MedDRA:10048063 {source="Orphanet:461/e", source="Orphanet:461"} xref: NCIT:C84779 {source="MONDO:equivalentTo", source="DOID:1700"} xref: OMIM:308100 {source="Orphanet:461/e", source="MONDO:equivalentTo", source="DOID:1700", source="Orphanet:461"} xref: Orphanet:281090 {source="MONDO:relatedTo", source="OMIM:308100"} xref: Orphanet:461 {source="MONDO:equivalentTo", source="OMIM:308100"} xref: SCTID:3944006 {source="MONDO:equivalentTo"} xref: UMLS:C0079588 {source="Orphanet:461/e", source="NCIT:C84779", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:1700", source="Orphanet:461", source="OMIM:308100"} is_a: MONDO:0015947 {source="PMID:20643494"} ! inherited ichthyosis is_a: MONDO:0019256 ! sterol metabolism disorder is_a: MONDO:0020605 ! X-linked recessive disease property_value: closeMatch http://identifiers.org/meddra/10048063 property_value: exactMatch DOID:1700 property_value: exactMatch http://identifiers.org/snomedct/3944006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0079588 property_value: exactMatch https://omim.org/entry/308100 property_value: exactMatch NCIT:C84779 property_value: exactMatch Orphanet:461 property_value: excluded_subClassOf MONDO:0015947 {source="Orphanet:461-generalized-by-cjm", source="Orphanet:461/inferred", source="https://github.com/monarch-initiative/mondo-build/issues/49"} property_value: excluded_subClassOf MONDO:0019269 {source="NCIT:C84779", source="Orphanet:461/inferred"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2114 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010626 name: hyper-IgM syndrome type 1 def: "The X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele." [Wikipedia:Hyper-IgM_syndrome_type_1] comment: This variant of the hyper-IgM syndrome is caused by mutation of the CD40LG gene. The genetic locus for this gene is Xq26. This gene codes for the CD40 ligand, which is expressed on T cells. When the CD40 ligand binds CD40 on B cells, then the B cell switches from producing IgM to producing IgA or IgG. {source="Wikipedia:Hyper-IgM_syndrome_type_1"} subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:101088"} synonym: "CD40 ligand deficiency" RELATED [NCIT:C61244] synonym: "HIGM" RELATED ABBREVIATION [GARD:0000073] synonym: "HIGM1" EXACT ABBREVIATION [GARD:0000073, MONDO:Lexical, OMIM:308230, Orphanet:101088] synonym: "HIGMX-1" EXACT [DOID:0060022] synonym: "hyper IgM immunodeficiency, X-linked" RELATED [GARD:0000073] synonym: "hyper IgM syndrome" RELATED [GARD:0000073] synonym: "hyper IgM syndrome 1" RELATED [GARD:0000073] synonym: "hyper-IgM immunodeficiency, X-linked" RELATED [OMIM:308230] synonym: "hyper-IgM syndrome" RELATED [OMIM:308230] synonym: "hyper-IgM syndrome 1" RELATED [OMIM:308230] synonym: "hyper-IgM syndrome due to CD40 ligand deficiency" EXACT [Orphanet:101088] synonym: "hyper-IgM syndrome due to CD40L deficiency" EXACT [Orphanet:101088] synonym: "hyper-IgM syndrome type 1" EXACT [Orphanet:101088] synonym: "hyper-IgM syndrome, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "hyperimmunoglobulin M syndrome" EXACT [DOID:6620] synonym: "IHIS" RELATED ABBREVIATION [GARD:0000073] synonym: "immunodeficiency 3" RELATED [OMIM:308230] synonym: "immunodeficiency with hyper IgM type 1" RELATED [GARD:0000073] synonym: "immunodeficiency with hyper-IgM, type 1" RELATED [MONDO:Lexical, OMIM:308230] synonym: "immunodeficiency, X-linked, with hyper-IgM, X-linked recessive" EXACT [OMIM:308230, OMIM:genemap2] synonym: "X-linked hyper IgM syndrome" RELATED [GARD:0000073] synonym: "X-linked hyper-IgM syndrome" EXACT [DOID:0060022, GARD:0000073] synonym: "XHIGM" EXACT ABBREVIATION [Orphanet:101088] synonym: "XHIM" RELATED ABBREVIATION [GARD:0000073] xref: DOID:0060022 {source="MONDO:equivalentTo"} xref: DOID:6620 {source="MONDO:equivalentTo"} xref: NCIT:C61244 {source="MONDO:equivalentTo"} xref: OMIM:308230 {source="Orphanet:101088", source="MONDO:equivalentTo", source="Orphanet:101088/e", source="GARD:0000073"} xref: Orphanet:101088 {source="MONDO:equivalentTo", source="OMIM:308230", source="GARD:0000073"} xref: SCTID:403835002 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: UMLS:C0398689 {source="Orphanet:101088", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:308230"} xref: Wikidata:Q3508611 is_a: MONDO:0000425 ! X-linked disease is_a: MONDO:0015975 {source="Orphanet:101088"} ! hyper-IgM syndrome with susceptibility to opportunistic infections property_value: exactMatch DOID:0060022 property_value: exactMatch DOID:6620 property_value: exactMatch http://identifiers.org/snomedct/403835002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398689 property_value: exactMatch https://omim.org/entry/308230 property_value: exactMatch NCIT:C61244 property_value: exactMatch Orphanet:101088 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/73/immunodeficiency-with-hyper-igm-type-1 xsd:anyURI {source="GARD:0000073"} [Term] id: MONDO:0010627 name: X-linked lymphoproliferative syndrome def: "X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV)." [Orphanet:2442] comment: Editor note: two OMIMPS subset: gard_rare subset: ordo_disease {source="Orphanet:2442"} subset: prototype_pattern synonym: "Duncan disease" EXACT [Orphanet:2442] synonym: "lymphoproliferative syndrome X-linked 1" RELATED [GARD:0007906] synonym: "lymphoproliferative syndrome, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "lymphoproliferative syndrome, X-linked, 1" RELATED [GARD:0007906, MONDO:Lexical, OMIM:308240] synonym: "lymphoproliferative syndrome, X-linked, type 1" NARROW [MONDORULE:1, OMIM:308240] synonym: "Purtilo syndrome" EXACT [Orphanet:2442] synonym: "SH2D1A-related lymphoproliferative disease, X-linked" RELATED [GARD:0007906] synonym: "X-linked lymphoproliferative disease" RELATED [Orphanet:2442] synonym: "X-linked lymphoproliferative syndrome" EXACT [NCIT:C61246] synonym: "X-linked lymphoproliferative syndrome 1" RELATED [DOID:0060705] synonym: "X-linked lymphoproliferative syndrome type 1" NARROW [DOID:0060705, MONDORULE:1] synonym: "XLP" EXACT ABBREVIATION [Orphanet:2442] synonym: "XLP1" NARROW ABBREVIATION [DOID:0060705] xref: DOID:0060705 {source="MONDO:equivalentTo"} xref: ICD9:238.79 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10068348 {source="Orphanet:2442", source="Orphanet:2442/e"} xref: NCIT:C61246 {source="MONDO:equivalentTo"} xref: Orphanet:2442 {source="MONDO:equivalentTo", source="GARD:0007906", source="OMIM:308240"} xref: SCTID:77121009 {source="MONDO:equivalentTo"} xref: UMLS:C0549463 {source="Orphanet:2442", source="MONDO:equivalentTo", source="Orphanet:2442/e", source="OMIM:308240", source="NCIT:C61246"} is_a: MONDO:0000425 {source="MONDO:Redundant"} ! X-linked disease is_a: MONDO:0015541 {source="Orphanet:2442"} ! hereditary hemophagocytic lymphohistiocytosis is_a: MONDO:0016537 {source="DC-OMIM:308240", source="DOID:0060705", source="MONDO:Redundant", source="Orphanet:2442"} ! lymphoproliferative syndrome is_a: MONDO:0021094 {source="NCIT:C61246"} ! immunodeficiency disease property_value: closeMatch http://identifiers.org/meddra/10068348 property_value: exactMatch DOID:0060705 property_value: exactMatch http://identifiers.org/snomedct/77121009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0549463 property_value: exactMatch NCIT:C61246 property_value: exactMatch Orphanet:2442 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7906/x-linked-lymphoproliferative-syndrome-1 xsd:anyURI {source="GARD:0007906"} [Term] id: MONDO:0010631 name: incontinentia pigmenti def: "Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." [Orphanet:464] subset: ordo_malformation_syndrome {source="Orphanet:464"} synonym: "Bloch-Siemens syndrome" EXACT [Orphanet:464] synonym: "Bloch-Sulzberger syndrome" EXACT [OMIM:308300, Orphanet:464] synonym: "incontinentia pigmenti" EXACT [MONDO:Lexical, OMIM:308300] synonym: "Incontinentia pigmenti syndrome" EXACT [DOID:12305] synonym: "Incontinentia pigmenti type 2 (formerly)" RELATED [GARD:0006778] synonym: "Incontinentia pigmenti, familial Male-lethal type" RELATED [OMIM:308300] synonym: "Incontinentia pigmenti, type II" RELATED [OMIM:308300] synonym: "Incontinentia pigmenti, type II, formerly" RELATED [OMIM:308300] synonym: "incontinentia pigmenti, X-linked dominant" EXACT [OMIM:308300, OMIM:genemap2] synonym: "IP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:308300] synonym: "IP2 (formerly)" RELATED [GARD:0006778] xref: DOID:12305 {source="EFO:1000672", source="MONDO:equivalentTo"} xref: EFO:1000672 {source="MONDO:equivalentTo"} xref: MESH:D007184 {source="DOID:12305", source="Orphanet:464/e", source="MONDO:equivalentTo", source="Orphanet:464"} xref: NCIT:C84787 {source="DOID:12305", source="MONDO:equivalentTo"} xref: OMIM:308300 {source="DOID:12305", source="Orphanet:464/e", source="MONDO:equivalentTo", source="Orphanet:464"} xref: Orphanet:464 {source="MONDO:equivalentTo", source="OMIM:308300"} xref: SCTID:367520004 {source="DOID:12305", source="MONDO:equivalentTo"} xref: UMLS:C0021171 {source="DOID:12305", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:464"} xref: UMLS:C0022283 {source="MONDO:relatedTo", source="Orphanet:464"} xref: Wikipedia:Incongenita_pigmenti {source="EFO:1000672"} is_a: MONDO:0019287 {source="Orphanet:464"} ! ectodermal dysplasia syndrome is_a: MONDO:0020247 {source="Orphanet:464"} ! congenital vitreoretinal dysplasia property_value: exactMatch DOID:12305 property_value: exactMatch http://identifiers.org/mesh/D007184 property_value: exactMatch http://identifiers.org/snomedct/367520004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0021171 property_value: exactMatch https://omim.org/entry/308300 property_value: exactMatch NCIT:C84787 property_value: exactMatch Orphanet:464 property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:50"} property_value: excluded_subClassOf MONDO:0020174 {source="Orphanet:464"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010632 name: developmental and epileptic encephalopathy, 1 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARX gene." [MONDO:patterns/disease_series_by_gene] synonym: "ARX early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "DEE1" EXACT ABBREVIATION [OMIM:308350] synonym: "developmental and epileptic encephalopathy 1, X-linked recessive" EXACT [OMIM:308350, OMIM:genemap2] synonym: "early infantile epileptic encephalopathy caused by mutation in ARX" EXACT [] synonym: "early infantile epileptic encephalopathy caused by mutation in arx" EXACT [MONDO:design_pattern] synonym: "EIEE1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:308350] synonym: "epileptic encephalopathy, early infantile, 1" EXACT [MONDO:Lexical, OMIM:308350] synonym: "epileptic encephalopathy, early infantile, type 1" EXACT [MONDORULE:1, OMIM:308350] synonym: "infantile epileptic-dyskinetic encephalopathy" RELATED [OMIM:308350] synonym: "infantile spasm syndrome, X-linked 1" RELATED [OMIM:308350] synonym: "Ohtahara syndrome, X-linked" RELATED [OMIM:308350] synonym: "West syndrome, X-linked" RELATED [OMIM:308350] synonym: "XMESID" RELATED ABBREVIATION [OMIM:308350] xref: DOID:0080468 {source="MONDO:equivalentTo"} xref: OMIM:308350 {source="MONDO:equivalentTo"} xref: UMLS:C3463992 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:308350"} is_a: MONDO:0018097 {source="Orphanet:3451/btnt", source="https://orcid.org/0000-0002-1780-5230"} ! West syndrome is_a: MONDO:0100062 {source="DC-OMIM:308350", source="MONDO:Redundant", source="OMIM:308350"} ! developmental and epileptic encephalopathy property_value: exactMatch DOID:0080468 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3463992 property_value: exactMatch https://omim.org/entry/308350 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010635 name: hypogonadotropic hypogonadism 1 with or without anosmia def: "The X-linked inherited form of Kallmann syndrome caused by mutation of the KAL1 gene mapped to chromosome Xp22.3." [NCIT:C75480] subset: gard_rare synonym: "ANOS1 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "anosmic hypogonadism" RELATED [OMIM:308700] synonym: "dysplasia Olfactogenitalis of De Morsier" RELATED [OMIM:308700] synonym: "dysplasia olfactogenitalis of de Morsier" EXACT [DOID:0090094] synonym: "HH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:308700] synonym: "hypogonadotropic hypogonadism 1 with or without anosmia" EXACT [MONDO:Lexical, OMIM:308700] synonym: "hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), X-linked recessive" EXACT [OMIM:308700, OMIM:genemap2] synonym: "hypogonadotropic hypogonadism and anosmia" RELATED [OMIM:308700] synonym: "hypogonadotropic hypogonadism caused by mutation in ANOS1" EXACT [MONDO:design_pattern] synonym: "KAL1" RELATED ABBREVIATION [GARD:0003071] synonym: "Kallmann syndrome 1" RELATED [OMIM:308700] synonym: "Kallmann syndrome, type 1, X-linked" RELATED [GARD:0003071] synonym: "Kallmann syndrome, X-linked" RELATED [GARD:0003071] synonym: "KMS" RELATED ABBREVIATION [OMIM:308700] xref: DOID:0090094 {source="MONDO:equivalentTo"} xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="DOID:0090094"} xref: NCIT:C75480 {source="MONDO:equivalentTo"} xref: OMIM:308700 {source="MONDO:equivalentTo", source="GARD:0003071", source="DOID:0090094"} xref: UMLS:C1563719 {source="OMIM:308700", source="NCIT:C75480", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018800 {source="NCIT:C75480", source="Orphanet:478/btnt"} ! Kallmann syndrome property_value: exactMatch DOID:0090094 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1563719 property_value: exactMatch https://omim.org/entry/308700 property_value: exactMatch NCIT:C75480 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010638 name: keratosis follicularis-dwarfism-cerebral atrophy syndrome def: "A syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalized alopecia and microcephaly were also present." [Orphanet:2339] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2339"} synonym: "dwarfism, cerebral atrophy and generalised keratosis follicularis" RELATED OMO:0003005 [] synonym: "dwarfism, cerebral atrophy and generalized keratosis follicularis" RELATED [GARD:0003099] synonym: "keratosis follicularis dwarfism and cerebral atrophy" RELATED [GARD:0003099] synonym: "keratosis follicularis, dwarfism, and cerebral atrophy" RELATED [OMIM:308830] xref: MESH:C536158 {source="MONDO:equivalentTo", source="Orphanet:2339", source="Orphanet:2339/e"} xref: OMIM:308830 {source="MONDO:equivalentTo", source="Orphanet:2339", source="Orphanet:2339/e", source="GARD:0003099"} xref: Orphanet:2339 {source="OMIM:308830", source="MONDO:equivalentTo", source="GARD:0003099"} xref: UMLS:C1839910 {source="OMIM:308830", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2339", source="Orphanet:2339/e", source="GARD:0003099"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: exactMatch http://identifiers.org/mesh/C536158 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839910 property_value: exactMatch https://omim.org/entry/308830 property_value: exactMatch Orphanet:2339 property_value: excluded_subClassOf MONDO:0005093 {source="MONDO:0019275-obsoleted"} property_value: excluded_subClassOf MONDO:0019268 {source="MONDO:0019274-obsoleted"} property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:2339"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3099/keratosis-follicularis-dwarfism-and-cerebral-atrophy xsd:anyURI {source="GARD:0003099"} [Term] id: MONDO:0010639 name: laryngeal abductor paralysis-intellectual disability syndrome def: "Laryngeal abductor paralysis-intellectual disability syndrome is characterized by congenital and permanent laryngeal abductor paralysis, associated, in the majority of cases, with intellectual deficit. It has been described in several families. X-linked inheritance is likely." [Orphanet:2375] comment: X linked version based on information from Joanna. {source="OMIM:308850"} subset: ordo_malformation_syndrome {source="Orphanet:2375"} synonym: "laryngeal abductor paralysis" RELATED [OMIM:308850] synonym: "Plott syndrome" EXACT [OMIM:308850, Orphanet:2375] synonym: "vocal cord dysfunction, familial" RELATED [OMIM:308850] xref: OMIM:308850 {source="Orphanet:2375", source="MONDO:equivalentTo", source="Orphanet:2375/e"} xref: Orphanet:2375 {source="MONDO:equivalentTo", source="OMIM:308850"} xref: SCTID:724178000 {source="MONDO:equivalentTo"} xref: UMLS:CN201604 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015510"} ! rare property_value: exactMatch http://identifiers.org/snomedct/724178000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201604 property_value: exactMatch https://omim.org/entry/308850 property_value: exactMatch Orphanet:2375 property_value: excluded_subClassOf MONDO:0005087 property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:2375"} [Term] id: MONDO:0010641 name: X-linked diffuse leiomyomatosis-Alport syndrome def: "The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families." [Orphanet:1018] subset: ordo_disease {source="Orphanet:1018"} synonym: "Alport syndrome and diffuse leiomyomatosis" RELATED [OMIM:308940] synonym: "Alport syndrome with diffuse leiomyomatosis" RELATED [GARD:0002432] synonym: "ATS-DL" RELATED [GARD:0002432] synonym: "chromosome Xq22.3 centromeric deletion syndrome" RELATED [OMIM:308940] synonym: "diffuse leiomyomatosis in Alport syndrome" RELATED [GARD:0002432] synonym: "DL-ATS" RELATED [MONDO:Lexical, OMIM:308940] synonym: "leiomyomatosis, diffuse, with Alport syndrome" RELATED [MONDO:Lexical, OMIM:308940] synonym: "leiomyomatosis, esophageal and vulval, with nephropathy" RELATED [OMIM:308940] synonym: "Xq22.3 microdeletion syndrome" EXACT [Orphanet:1018] xref: MESH:C537113 {source="MONDO:equivalentTo"} xref: OMIM:308940 {source="MONDO:equivalentTo", source="Orphanet:1018", source="Orphanet:1018/e"} xref: Orphanet:1018 {source="OMIM:308940", source="MONDO:equivalentTo"} is_a: MONDO:0017007 {source="Orphanet:1018"} ! partial deletion of the long arm of chromosome X is_a: MONDO:0019723 {source="Orphanet:1018"} ! disease of glomerular basement membrane property_value: exactMatch http://identifiers.org/mesh/C537113 property_value: exactMatch https://omim.org/entry/308940 property_value: exactMatch Orphanet:1018 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0010645 name: oculocerebrorenal syndrome def: "Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure." [Orphanet:534] subset: ordo_malformation_syndrome {source="Orphanet:534"} synonym: "Lowe disease" EXACT [Orphanet:534] synonym: "Lowe oculo-cerebro-renal syndrome" EXACT [Orphanet:534] synonym: "Lowe oculocerebrorenal syndrome" EXACT [DOID:1056, MONDO:Lexical, OMIM:309000] synonym: "Lowe syndrome" EXACT [DOID:1056, OMIM:309000, Orphanet:534] synonym: "Lowe syndrome, X-linked recessive" EXACT [OMIM:309000, OMIM:genemap2] synonym: "OCR" EXACT ABBREVIATION [Orphanet:534] synonym: "OCRL" EXACT ABBREVIATION [MONDO:Lexical, OMIM:309000, Orphanet:534] synonym: "Ocrl1" RELATED [OMIM:309000] synonym: "oculo-cerebro-renal dystrophy" EXACT [Orphanet:534] synonym: "oculo-cerebro-renal syndrome" EXACT [Orphanet:534] synonym: "oculocerebrorenal dystrophy" EXACT [Orphanet:534] synonym: "oculocerebrorenal syndrome" EXACT [] synonym: "oculocerebrorenal syndrome of Lowe" EXACT [DOID:1056] synonym: "phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency" EXACT [Orphanet:534] synonym: "phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency" RELATED [OMIM:309000] xref: DOID:1056 {source="MONDO:equivalentTo"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10051707 {source="Orphanet:534", source="Orphanet:534/e"} xref: MESH:D009800 {source="DOID:1056", source="Orphanet:534", source="MONDO:equivalentTo", source="Orphanet:534/e"} xref: NCIT:C84940 {source="DOID:1056", source="MONDO:equivalentTo"} xref: OMIM:309000 {source="DOID:1056", source="Orphanet:534", source="MONDO:equivalentTo", source="Orphanet:534/e"} xref: Orphanet:534 {source="MONDO:equivalentTo", source="OMIM:309000"} xref: SCTID:79385002 {source="DOID:1056", source="MONDO:equivalentTo"} xref: UMLS:C0028860 {source="DOID:1056", source="Orphanet:534", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:534/e", source="OMIM:309000", source="NCIT:C84940"} is_a: EFO:0003966 {source="MONDO:0020222-obsoleted"} ! eye disease is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84940"} ! syndromic disease is_a: MONDO:0015962 {source="Orphanet:534"} ! inherited renal tubular disease is_a: MONDO:0019216 {source="Orphanet:534"} ! inborn disorder of amino acid transport property_value: closeMatch http://identifiers.org/meddra/10051707 property_value: exactMatch DOID:1056 property_value: exactMatch http://identifiers.org/mesh/D009800 property_value: exactMatch http://identifiers.org/snomedct/79385002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0028860 property_value: exactMatch https://omim.org/entry/309000 property_value: exactMatch NCIT:C84940 property_value: exactMatch Orphanet:534 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010649 name: isolated congenital megalocornea def: "Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma." [Orphanet:91489] subset: ordo_morphological_anomaly {source="Orphanet:91489"} synonym: "congenital anterior megalophthalmia" EXACT [Orphanet:91489] synonym: "isolated congenital megalocornea" EXACT [] synonym: "megalocornea" RELATED [MONDO:Lexical, OMIM:309300] synonym: "megalocornea 1, X-linked, X-linked recessive" EXACT [OMIM:309300, OMIM:genemap2] synonym: "MGC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:309300] synonym: "Mgcn" RELATED [OMIM:309300] xref: OMIM:309300 {source="MONDO:equivalentTo", source="Orphanet:91489", source="Orphanet:91489/e"} xref: Orphanet:91489 {source="MONDO:equivalentTo", source="OMIM:309300"} xref: SCTID:734026006 {source="MONDO:equivalentTo"} is_a: MONDO:0009576 {source="DC-OMIM:309300"} ! megalocornea is_a: MONDO:0020219 {source="Orphanet:91489"} ! corneogoniodysgenesis relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch http://identifiers.org/snomedct/734026006 property_value: exactMatch https://omim.org/entry/309300 property_value: exactMatch Orphanet:91489 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010650 name: Melnick-Needles syndrome def: "A otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems." [Orphanet:2484] subset: gard_rare {source="GARD:0007011"} subset: ordo_malformation_syndrome {source="Orphanet:2484"} synonym: "Melnick-Needles osteodysplasty" EXACT [OMIM:309350, Orphanet:2484] synonym: "MELNICK-NEEDLES syndrome" RELATED [OMIM:309350] synonym: "Melnick-Needles syndrome" EXACT [MONDO:Lexical, OMIM:309350] synonym: "Melnick-Needles syndrome, X-linked dominant" EXACT [OMIM:309350, OMIM:genemap2] synonym: "MNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:309350] synonym: "osteodysplasty of Melnick and Needles" RELATED [OMIM:309350] xref: DOID:0111788 {source="MONDO:equivalentTo"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10060908 {source="Orphanet:2484", source="Orphanet:2484/e"} xref: OMIM:309350 {source="Orphanet:2484", source="MONDO:equivalentTo", source="Orphanet:2484/e"} xref: Orphanet:2484 {source="MONDO:equivalentTo", source="OMIM:309350"} xref: SCTID:13449007 {source="MONDO:equivalentTo"} xref: UMLS:C0025237 {source="Orphanet:2484", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2484/e", source="OMIM:309350"} is_a: MONDO:0018233 {source="Orphanet:2484"} ! otopalatodigital syndrome spectrum disorder is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: closeMatch http://identifiers.org/meddra/10060908 property_value: exactMatch DOID:0111788 property_value: exactMatch http://identifiers.org/snomedct/13449007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025237 property_value: exactMatch https://omim.org/entry/309350 property_value: exactMatch Orphanet:2484 property_value: excluded_subClassOf MONDO:0005328 {source="MONDO:0020222-obsoleted"} property_value: excluded_subClassOf MONDO:0015161 {source="Orphanet:2484"} property_value: excluded_subClassOf MONDO:0019690 {source="PMID:31633310"} property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:2484"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7011/melnick-needles-syndrome xsd:anyURI {source="GARD:0007011"} [Term] id: MONDO:0010651 name: Menkes disease def: "A usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." [https://orcid.org/0000-0001-5208-3432, Orphanet:565] subset: gard_rare {source="GARD:0001521"} subset: ordo_disease {source="Orphanet:565"} synonym: "copper transport disease" BROAD [DOID:1838, OMIM:309400] synonym: "kinky hair disease" EXACT [Orphanet:565] synonym: "kinky hair syndrome" EXACT [Orphanet:565] synonym: "MD" EXACT ABBREVIATION [Orphanet:565] synonym: "Menkea syndrome" RELATED [GARD:0001521] synonym: "Menkes disease" EXACT [OMIM:309400] synonym: "menkes disease, X-linked recessive" EXACT [OMIM:309400, OMIM:genemap2] synonym: "Menkes kinky hair syndrome" EXACT [NCIT:C75486] synonym: "Menkes kinky-hair syndrome" EXACT [DOID:1838] synonym: "Menkes syndrome" EXACT [Orphanet:565] synonym: "Mk" EXACT [OMIM:309400, Orphanet:565] synonym: "MNK" EXACT ABBREVIATION [Orphanet:565] synonym: "steely hair disease" EXACT [OMIM:309400, Orphanet:565] synonym: "steely hair syndrome" EXACT [DOID:1838, Orphanet:565] synonym: "Trichopoliodystrophy" EXACT [Orphanet:565] synonym: "X-linked copper deficiency" EXACT [Orphanet:565] xref: DOID:1838 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10027294 {source="Orphanet:565", source="Orphanet:565/e"} xref: MESH:D007706 {source="MONDO:equivalentTo", source="DOID:1838"} xref: NCIT:C75486 {source="MONDO:equivalentTo", source="DOID:1838"} xref: OMIM:309400 {source="Orphanet:565", source="MONDO:equivalentTo", source="Orphanet:565/e", source="DOID:1838"} xref: Orphanet:565 {source="MONDO:equivalentTo", source="OMIM:309400"} xref: SCTID:59178007 {source="MONDO:equivalentTo", source="DOID:1838"} xref: UMLS:C0022716 {source="Orphanet:565", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:565/e", source="NCIT:C75486", source="DOID:1838", source="OMIM:309400"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75486"} ! syndromic disease is_a: MONDO:0004689 {source="DOID:1838", source="MESH:D007706"} ! inborn metal metabolism disorder is_a: MONDO:0017762 {source="Orphanet:565"} ! disorder of copper metabolism property_value: closeMatch http://identifiers.org/meddra/10027294 property_value: exactMatch DOID:1838 property_value: exactMatch http://identifiers.org/mesh/D007706 property_value: exactMatch http://identifiers.org/snomedct/59178007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022716 property_value: exactMatch https://omim.org/entry/309400 property_value: exactMatch NCIT:C75486 property_value: exactMatch Orphanet:565 property_value: excluded_subClassOf MONDO:0002917 {source="DOID:1838", source="MESH:D007706", source="MONDO:Redundant", source="MONDO:indirect"} property_value: excluded_subClassOf MONDO:0019282 {source="Orphanet:565"} property_value: excluded_subClassOf MONDO:0020189 {source="Orphanet:565"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1521/menkes-disease xsd:anyURI {source="GARD:0001521"} [Term] id: MONDO:0010652 name: X-linked intellectual disability-seizures-psoriasis syndrome def: "X-linked intellectual disability-seizures-psoriasis syndrome has been described in four male cousins. The mode of inheritance is thought to be X-linked recessive." [Orphanet:3052] subset: ordo_disease {source="Orphanet:3052"} synonym: "intellectual disability and psoriasis" RELATED [OMIM:309480] synonym: "intellectual disability X-linked, Tranebjaerg type seizures and psoriasis" RELATED [GARD:0005238] synonym: "mental retardation and psoriasis" RELATED DEPRECATED [OMIM:309480] synonym: "mental retardation X-linked, Tranebjaerg type seizures and psoriasis" RELATED DEPRECATED [GARD:0005238] synonym: "Tranebjaerg Svejgaard syndrome" RELATED [GARD:0005238] synonym: "Tranebjaerg-Svejgaard syndrome" EXACT [Orphanet:3052] synonym: "X-linked intellectual disability - seizures - psoriasis" RELATED [GARD:0005238] synonym: "X-linked intellectual disability associated with psoriasis" RELATED [GARD:0005238] synonym: "X-linked mental retardation associated with psoriasis" RELATED DEPRECATED [GARD:0005238] xref: MESH:C536978 {source="MONDO:equivalentTo"} xref: OMIM:309480 {source="Orphanet:3052/e", source="MONDO:equivalentTo", source="Orphanet:3052"} xref: Orphanet:3052 {source="MONDO:equivalentTo", source="OMIM:309480"} xref: SCTID:719810000 {source="MONDO:equivalentTo"} is_a: MONDO:0020119 {source="Orphanet:3052", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch http://identifiers.org/mesh/C536978 property_value: exactMatch http://identifiers.org/snomedct/719810000 property_value: exactMatch https://omim.org/entry/309480 property_value: exactMatch Orphanet:3052 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010653 name: Renpenning syndrome def: "An X-linked syndrome characterized by intellectual deficiency, microcephaly, leanness and mild short stature." [Orphanet:3242] subset: ordo_malformation_syndrome {source="Orphanet:3242"} synonym: "Golabi-Ito-Hall syndrome" EXACT [DOID:0060179, OMIM:309500] synonym: "intellectual disability, X-linked 55" RELATED [OMIM:309500] synonym: "intellectual disability, X-linked Renpenning type" RELATED [GARD:0009509] synonym: "intellectual disability, X-linked, Renpenning type" RELATED [OMIM:309500] synonym: "intellectual disability, X-linked, syndromic 3" RELATED [OMIM:309500] synonym: "intellectual disability, X-linked, syndromic 8" RELATED [OMIM:309500] synonym: "intellectual disability, X-linked, with spastic diplegia" RELATED [OMIM:309500] synonym: "mental retardation, X-linked 55" RELATED DEPRECATED [OMIM:309500] synonym: "mental retardation, X-linked Renpenning type" RELATED DEPRECATED [GARD:0009509] synonym: "mental retardation, X-linked, Renpenning type" RELATED DEPRECATED [OMIM:309500] synonym: "mental retardation, X-linked, syndromic 3" RELATED DEPRECATED [OMIM:309500] synonym: "mental retardation, X-linked, syndromic 8" RELATED DEPRECATED [OMIM:309500] synonym: "mental retardation, X-linked, with spastic diplegia" RELATED DEPRECATED [OMIM:309500] synonym: "MRXS3" RELATED ABBREVIATION [GARD:0009509] synonym: "MRXS8" RELATED ABBREVIATION [GARD:0009509] synonym: "Renpenning syndrome" EXACT [] synonym: "Renpenning syndrome 1" RELATED [MONDO:Lexical, OMIM:309500] synonym: "Renpenning syndrome type 1" EXACT [MONDORULE:1, OMIM:309500] synonym: "renpenning syndrome, X-linked recessive" EXACT [OMIM:309500, OMIM:genemap2] synonym: "RENS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:309500] synonym: "Sutherland-Haan syndrome" RELATED [GARD:0009509] synonym: "Sutherland-Haan X-linked intellectual disability syndrome" EXACT [DOID:0060179, OMIM:309500] synonym: "Sutherland-Haan X-linked mental retardation syndrome" EXACT DEPRECATED [DOID:0060179, OMIM:309500] synonym: "syndromic X-linked intellectual disability 8" EXACT [DOID:0060179] synonym: "syndromic X-linked mental retardation 8" EXACT DEPRECATED [DOID:0060179] synonym: "X-linked intellectual disability due to PQBP1 mutations" EXACT [DOID:0060179, Orphanet:3242] synonym: "X-linked intellectual disability Renpenning type" EXACT [DOID:0060179] synonym: "X-linked intellectual disability syndromic 3" RELATED [GARD:0009509] synonym: "X-linked intellectual disability with spastic diplegia" EXACT [DOID:0060179] synonym: "X-linked intellectual disability, Renpenning type" EXACT [DOID:0060179, Orphanet:3242] synonym: "X-linked mental retardation Renpenning type" EXACT DEPRECATED [DOID:0060179] synonym: "X-linked mental retardation syndromic 3" RELATED DEPRECATED [GARD:0009509] synonym: "X-linked mental retardation with spastic diplegia" EXACT DEPRECATED [DOID:0060179] xref: DOID:0060179 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537761 {source="MONDO:equivalentTo"} xref: NCIT:C165533 {source="MONDO:equivalentTo"} xref: OMIM:309500 {source="Orphanet:3242/e", source="DOID:0060179", source="MONDO:equivalentTo", source="Orphanet:3242"} xref: Orphanet:3242 {source="OMIM:309500", source="DOID:0060179", source="MONDO:equivalentTo"} xref: SCTID:699669001 {source="MONDO:equivalentTo"} xref: UMLS:C0796135 {source="OMIM:309500", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch DOID:0060179 property_value: exactMatch http://identifiers.org/mesh/C537761 property_value: exactMatch http://identifiers.org/snomedct/699669001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796135 property_value: exactMatch https://omim.org/entry/309500 property_value: exactMatch NCIT:C165533 property_value: exactMatch Orphanet:3242 property_value: excluded_subClassOf MONDO:0015159 {source="Orphanet:3242"} property_value: excluded_subClassOf MONDO:0015246 {source="Orphanet:3242"} property_value: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:309500", source="DOID:0060179", source="OMIM:309500", source="Orphanet:3242"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010654 name: Partington syndrome def: "A rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. It is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person." [GARD:0004235] subset: ordo_malformation_syndrome {source="Orphanet:94083"} synonym: "intellectual disability, X-linked 36" RELATED [OMIM:309510] synonym: "intellectual disability, X-linked, syndromic 1" RELATED [GARD:0004235, OMIM:309510] synonym: "intellectual disability, X-linked, with dystonic movements, ataxia, and seizures" RELATED [GARD:0004235, OMIM:309510] synonym: "intellectual disability-dystonic movements-ataxia-seizures syndrome" RELATED [GARD:0004235] synonym: "mental retardation, X-linked 36" RELATED DEPRECATED [OMIM:309510] synonym: "mental retardation, X-linked, syndromic 1" RELATED DEPRECATED [OMIM:309510] synonym: "mental retardation, X-linked, with dystonic movements, ataxia, and seizures" RELATED DEPRECATED [OMIM:309510] synonym: "MRXS1" RELATED ABBREVIATION [GARD:0004235] synonym: "Partington syndrome" EXACT [OMIM:309510] synonym: "Partington syndrome, X-linked recessive" EXACT [OMIM:309510, OMIM:genemap2] synonym: "Partington X-linked intellectual disability syndrome" RELATED [MONDO:Lexical, OMIM:309510] synonym: "Partington X-linked mental retardation syndrome" RELATED DEPRECATED [MONDO:Lexical, OMIM:309510] synonym: "Partington-Mulley syndrome" EXACT [Orphanet:94083] synonym: "PRTS" RELATED DEPRECATED [MONDO:Lexical, OMIM:309510] synonym: "X-linked intellectual disability-dystonia-dysarthria syndrome" EXACT [Orphanet:94083] synonym: "X-linked Russell-Silver syndrome" EXACT [DOID:14744] xref: DOID:14744 {source="MONDO:equivalentTo"} xref: OMIM:309510 {source="Orphanet:94083/e", source="MONDO:equivalentTo", source="Orphanet:94083", source="DOID:14744"} xref: Orphanet:94083 {source="MONDO:equivalentTo", source="DOID:14744", source="OMIM:309510"} is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch DOID:14744 property_value: exactMatch https://omim.org/entry/309510 property_value: exactMatch Orphanet:94083 property_value: excluded_subClassOf MONDO:0015921 {source="Orphanet:94083"} property_value: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:309510", source="DOID:14744", source="OMIM:309510", source="Orphanet:94083"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010655 name: X-linked intellectual disability with marfanoid habitus def: "The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems." [Orphanet:776] subset: ordo_malformation_syndrome {source="Orphanet:776"} synonym: "intellectual disability, X-linked, with Marfanoid habitus" RELATED [OMIM:309520] synonym: "Lujan syndrome" EXACT [Orphanet:776] synonym: "LUJAN-Fryns syndrome" RELATED [OMIM:309520] synonym: "Lujan-Fryns syndrome" EXACT [Orphanet:776] synonym: "Lujan-Fryns syndrome, X-linked recessive" EXACT [OMIM:309520, OMIM:genemap2] synonym: "Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies" RELATED [GARD:0003307] synonym: "mental retardation, X-linked, with Marfanoid habitus" RELATED DEPRECATED [OMIM:309520] xref: DOID:0080985 {source="MONDO:equivalentTo"} xref: MESH:C537724 {source="MONDO:equivalentTo"} xref: OMIM:309520 {source="Orphanet:776", source="MONDO:equivalentTo", source="Orphanet:776/e"} xref: Orphanet:776 {source="MONDO:equivalentTo", source="OMIM:309520"} xref: SCTID:422437002 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:776"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0100000 {source="MONDO:Redundant"} ! MED12-related intellectual disability syndrome property_value: exactMatch DOID:0080985 property_value: exactMatch http://identifiers.org/mesh/C537724 property_value: exactMatch http://identifiers.org/snomedct/422437002 property_value: exactMatch https://omim.org/entry/309520 property_value: exactMatch Orphanet:776 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010657 name: methylmalonic acidemia with homocystinuria, type cblX subset: ordo_clinical_subtype {source="Orphanet:369962"} synonym: "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX" EXACT [Orphanet:369962] synonym: "intellectual disability, X-linked 3" RELATED [GARD:0013137, OMIM:309541] synonym: "mental retardation, X-linked 3" RELATED DEPRECATED [OMIM:309541] synonym: "methylmalonic acidemia and homocysteinemia type cblX" RELATED [GARD:0013137] synonym: "methylmalonic acidemia and HOMOCYSTEINEMIA, cblX type" RELATED [OMIM:309541] synonym: "methylmalonic aciduria and homocysteinemia, cblx type, X-linked recessive" EXACT [OMIM:309541, OMIM:genemap2] synonym: "methylmalonic aciduria with homocystinuria, type cblX" EXACT [Orphanet:369962] xref: DOID:0111814 {source="MONDO:equivalentTo"} xref: MESH:C563136 {source="MONDO:equivalentTo"} xref: OMIM:309541 {source="Orphanet:369962", source="MONDO:equivalentTo", source="Orphanet:369962/e"} xref: Orphanet:369962 {source="MONDO:equivalentTo", source="OMIM:309541"} xref: UMLS:C0796208 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:309541"} is_a: MONDO:0016826 {source="Orphanet:369962"} ! methylmalonic aciduria and homocystinuria is_a: MONDO:0019181 {source="DC-OMIM:309541", source="OMIM:309541"} ! non-syndromic X-linked intellectual disability is_a: MONDO:0019213 ! cerebral organic aciduria property_value: exactMatch DOID:0111814 property_value: exactMatch http://identifiers.org/mesh/C563136 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796208 property_value: exactMatch https://omim.org/entry/309541 property_value: exactMatch Orphanet:369962 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010658 name: syndromic X-linked intellectual disability 12 def: "X-linked intellectual disability, Wilson type is characterized by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localized to the 11p region of the X chromosome." [Orphanet:85290] subset: ordo_malformation_syndrome {source="Orphanet:85290"} synonym: "intellectual disability, X-linked, syndromic 12" EXACT [DOID:0060804, MONDO:Lexical, OMIM:309545] synonym: "mental retardation, X-linked, syndromic 12" EXACT DEPRECATED [DOID:0060804, MONDO:Lexical, OMIM:309545] synonym: "MRXS12" RELATED DEPRECATED [MONDO:Lexical, OMIM:309545] synonym: "syndromic X-linked intellectual disability type 12" EXACT [DOID:0060804, MONDORULE:2] synonym: "X-linked intellectual disability, Wilson type" EXACT [DOID:0060804] xref: DOID:0060804 {source="MONDO:equivalentTo"} xref: MESH:C564106 {source="MONDO:equivalentTo"} xref: OMIM:309545 {source="MONDO:equivalentTo", source="Orphanet:85290", source="DOID:0060804", source="Orphanet:85290/e"} xref: Orphanet:85290 {source="OMIM:309545", source="MONDO:equivalentTo", source="DOID:0060804"} xref: SCTID:719009006 {source="MONDO:equivalentTo"} xref: UMLS:C1839792 {source="OMIM:309545", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0020119 {source="DC-OMIM:309545", source="DOID:0060804", source="OMIM:309545", source="Orphanet:85290", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch DOID:0060804 property_value: exactMatch http://identifiers.org/mesh/C564106 property_value: exactMatch http://identifiers.org/snomedct/719009006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839792 property_value: exactMatch https://omim.org/entry/309545 property_value: exactMatch Orphanet:85290 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010659 name: FRAXE intellectual disability def: "A nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR." [Orphanet:100973] subset: gard_rare subset: ordo_disease {source="Orphanet:100973"} synonym: "fragile site, folic acid type" RELATED [GARD:0002378] synonym: "fragile XE syndrome" RELATED [GARD:0002378] synonym: "FRAXE intellectual disability" EXACT [] synonym: "FRAXE intellectual disability syndrome" RELATED [OMIM:309548] synonym: "FRAXE mental retardation syndrome" RELATED DEPRECATED [OMIM:309548] synonym: "FRAXE syndrome" RELATED [GARD:0002378] synonym: "intellectual developmental disorder, X-linked 109, X-linked recessive" EXACT [OMIM:309548, OMIM:genemap2] synonym: "intellectual disability associated with fragile site FRAXE" EXACT [Orphanet:100973] synonym: "intellectual disability, X-linked, associated with fragile site FRAXE" RELATED [OMIM:309548] synonym: "mental retardation, X-linked, associated with fragile site FRAXE" RELATED DEPRECATED [OMIM:309548] synonym: "X-linked intellectual disability associated with fragile site FRAXE" RELATED [GARD:0002378] synonym: "X-linked mental retardation associated with fragile site FRAXE" RELATED DEPRECATED [GARD:0002378] xref: DOID:0080984 {source="MONDO:equivalentTo"} xref: OMIM:309548 {source="GARD:0002378", source="MONDO:equivalentTo", source="Orphanet:100973", source="Orphanet:100973/e"} xref: Orphanet:100973 {source="GARD:0002378", source="OMIM:309548", source="MONDO:equivalentTo"} xref: SCTID:716709002 {source="MONDO:equivalentTo"} xref: UMLS:C0751157 {source="OMIM:309548", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019181 {source="https://orcid.org/0000-0001-5208-3432"} ! non-syndromic X-linked intellectual disability property_value: exactMatch DOID:0080984 property_value: exactMatch http://identifiers.org/snomedct/716709002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751157 property_value: exactMatch https://omim.org/entry/309548 property_value: exactMatch Orphanet:100973 property_value: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:309548", source="Orphanet:100973"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2378/fragile-xe-syndrome xsd:anyURI {source="GARD:0002378"} [Term] id: MONDO:0010661 name: severe X-linked intellectual disability, Gustavson type def: "Severe X-linked intellectual disability, Gustavson type is characterized by X-linked intellectual disability, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood." [Orphanet:3078] subset: ordo_malformation_syndrome {source="Orphanet:3078"} synonym: "gust" RELATED [GARD:0005611] synonym: "Gustavson syndrome" RELATED [OMIM:309555] synonym: "intellectual disability with optic atrophy, deafness, and seizures" RELATED [OMIM:309555] synonym: "intellectual disability X-linked severe Gustavson type" RELATED [GARD:0005611] synonym: "mental retardation with optic atrophy, deafness, and seizures" RELATED DEPRECATED [OMIM:309555] synonym: "mental retardation X-linked severe Gustavson type" RELATED DEPRECATED [GARD:0005611] synonym: "X-linked intellectual disability Gustavson type" RELATED [GARD:0005611] synonym: "X-linked mental retardation Gustavson type" RELATED DEPRECATED [GARD:0005611] xref: DOID:0081123 {source="MONDO:equivalentTo"} xref: MESH:C536759 {source="MONDO:equivalentTo"} xref: OMIM:309555 {source="Orphanet:3078", source="MONDO:equivalentTo", source="Orphanet:3078/e"} xref: Orphanet:3078 {source="OMIM:309555", source="MONDO:equivalentTo"} xref: SCTID:722213009 {source="MONDO:equivalentTo"} xref: UMLS:C0795965 {source="OMIM:309555", source="Orphanet:3078", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0020119 {source="Orphanet:3078", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch DOID:0081123 property_value: exactMatch http://identifiers.org/mesh/C536759 property_value: exactMatch http://identifiers.org/snomedct/722213009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795965 property_value: exactMatch https://omim.org/entry/309555 property_value: exactMatch Orphanet:3078 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010662 name: paraplegia-intellectual disability-hyperkeratosis syndrome def: "A syndrome characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition." [Orphanet:2824] subset: ordo_malformation_syndrome {source="Orphanet:2824"} synonym: "Fitzsimmons-McLachlan-Gilbert syndrome" EXACT [Orphanet:2824] synonym: "intellectual disability with spastic paraplegia and palmoplantar hyperkeratosis" RELATED [OMIM:309560] synonym: "mental retardation with spastic paraplegia and palmoplantar hyperkeratosis" RELATED DEPRECATED [OMIM:309560] xref: MESH:C537058 {source="MONDO:equivalentTo"} xref: OMIM:309560 {source="Orphanet:2824/e", source="MONDO:equivalentTo", source="Orphanet:2824"} xref: Orphanet:2824 {source="MONDO:equivalentTo", source="OMIM:309560"} xref: UMLS:C2745996 {source="Orphanet:2824/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:309560", source="Orphanet:2824"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: exactMatch http://identifiers.org/mesh/C537058 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2745996 property_value: exactMatch https://omim.org/entry/309560 property_value: exactMatch Orphanet:2824 property_value: excluded_subClassOf MONDO:0015159 {source="Orphanet:2824"} property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:2824"} [Term] id: MONDO:0010663 name: intellectual disability-hypotonic facies syndrome, X-linked, 1 def: "A group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features." [https://orcid.org/0000-0001-5208-3432, Orphanet:73220] subset: disease_grouping subset: gard_rare subset: ordo_group_of_disorders {source="Orphanet:73220"} subset: ordo_malformation_syndrome {source="Orphanet:93971", source="Orphanet:93973", source="Orphanet:93974"} synonym: "Carpenter-Waziri syndrome" EXACT [OMIM:309580] synonym: "Chudley intellectual disability syndrome" RELATED [GARD:0001357] synonym: "Chudley Lowry Hoar syndrome" EXACT [GARD:0001357] synonym: "Chudley mental retardation syndrome" RELATED DEPRECATED [GARD:0001357] synonym: "Chudley syndrome 1" RELATED [GARD:0001357] synonym: "Chudley-Lowry syndrome" EXACT [OMIM:309580, Orphanet:93971] synonym: "Chudley-Lowry-Hoar syndrome" EXACT [MONDO:0019775] synonym: "Holmes-Gang syndrome" EXACT [OMIM:309580] synonym: "intellectual disability Smith Fineman Myers type" RELATED [GARD:0003521] synonym: "intellectual disability, X-linked, with growth retardation, deafness, and microgenitalism" RELATED [OMIM:309580] synonym: "intellectual disability-hypotonic facies syndrome X-linked, 1" RELATED [GARD:0001357] synonym: "intellectual disability-hypotonic facies syndrome, X-linked, 1" EXACT [MONDO:Lexical, OMIM:309580] synonym: "intellectual disability-hypotonic facies syndrome, X-linked, type 1" EXACT [MONDORULE:1, OMIM:309580] synonym: "JMS" RELATED ABBREVIATION [GARD:0000081] synonym: "Juberg Marsidi syndrome" NARROW [GARD:0000081] synonym: "Juberg-Marsidi mental retardation syndrome" NARROW DEPRECATED [GARD:0000081] synonym: "Juberg-Marsidi syndrome" NARROW [OMIM:309580] synonym: "mental retardation Smith Fineman Myers type" RELATED DEPRECATED [GARD:0003521] synonym: "mental retardation, X-linked, with growth retardation, deafness, and microgenitalism" RELATED DEPRECATED [OMIM:309580] synonym: "mental retardation-hypotonic facies syndrome X-linked, 1" RELATED DEPRECATED [GARD:0001357] synonym: "mental retardation-hypotonic facies syndrome, X-linked, 1" RELATED DEPRECATED [MONDO:Lexical, OMIM:309580] synonym: "mental retardation-hypotonic facies syndrome, X-linked, type 1" EXACT DEPRECATED [MONDORULE:1, OMIM:309580] synonym: "mental retardation-hypotonic facies syndrome, X-linked, X-linked recessive" EXACT DEPRECATED [OMIM:309580, OMIM:genemap2] synonym: "mental retradation, X-linked with Growth delay, deafness, microgenitalism" RELATED DEPRECATED [GARD:0000081] synonym: "MRXHF1" EXACT DEPRECATED [MONDO:Lexical, OMIM:309580] synonym: "SFM1" RELATED ABBREVIATION [GARD:0001357] synonym: "SFMS" EXACT ABBREVIATION [OMIM:309580] synonym: "Smith Fineman Myers syndrome 1" RELATED [GARD:0001357, OMIM:309580] synonym: "Smith-Fineman-Myers syndrome" EXACT [GARD:0003521] synonym: "X-linked hypogonadism gynecomastia intellectual disability" RELATED [GARD:0000081] synonym: "X-linked hypogonadism gynecomastia mental retardation" RELATED DEPRECATED [GARD:0000081] synonym: "X-linked intellectual disability-hypotonic face syndrome" EXACT [Orphanet:73220] synonym: "XLMR-hypotonic facies syndrome" EXACT [OMIM:309580] xref: DOID:0080982 {source="MONDO:equivalentTo"} xref: MESH:C537445 {source="MONDO:equivalentTo"} xref: OMIM:309580 {source="Orphanet:73220", source="Orphanet:93971/ntbt", source="Orphanet:93971", source="MONDO:equivalentTo", source="Orphanet:93973", source="Orphanet:73220/e", source="Orphanet:93974", source="GARD:0000081", source="Orphanet:93974/ntbt", source="Orphanet:93973/ntbt"} xref: Orphanet:73220 {source="MONDO:equivalentObsolete", source="OMIM:309580"} xref: Orphanet:93971 {source="MONDO:equivalentObsolete", source="OMIM:309580"} xref: Orphanet:93973 {source="MONDO:equivalentObsolete", source="OMIM:309580"} xref: Orphanet:93974 {source="MONDO:equivalentObsolete", source="OMIM:309580"} xref: SCTID:717763008 {source="MONDO:equivalentTo"} xref: SCTID:719212004 {source="MONDO:equivalentTo"} xref: UMLS:C0796159 {source="MONDO:equivalentTo", source="Orphanet:93974"} xref: UMLS:CN205653 {source="MONDO:equivalentTo"} xref: UMLS:CN206716 {source="MONDO:equivalentTo"} xref: UMLS:CN206718 {source="MONDO:equivalentTo"} is_a: MONDO:0016980 {source="Orphanet:73220"} ! ATR-X-related syndrome property_value: exactMatch DOID:0080982 property_value: exactMatch http://identifiers.org/mesh/C537445 property_value: exactMatch http://identifiers.org/snomedct/717763008 property_value: exactMatch http://identifiers.org/snomedct/719212004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796159 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205653 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206716 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206718 property_value: exactMatch https://omim.org/entry/309580 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5061 xsd:anyURI [Term] id: MONDO:0010664 name: syndromic X-linked intellectual disability Snyder type def: "Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed." [Orphanet:3063] subset: ordo_disease {source="Orphanet:3063"} synonym: "intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, X-linked recessive" EXACT [OMIM:309583, OMIM:genemap2] synonym: "intellectual disability, X-linked, Snyder-Robinson type" EXACT [DOID:0060802] synonym: "intellectual disability, X-linked, syndromic, Snyder-Robinson type" RELATED [MONDO:Lexical, OMIM:309583] synonym: "mental retardation, X-linked, Snyder-Robinson type" EXACT DEPRECATED [DOID:0060802] synonym: "mental retardation, X-linked, syndromic, Snyder-Robinson type" RELATED DEPRECATED [MONDO:Lexical, OMIM:309583] synonym: "MRXSSR" RELATED DEPRECATED [MONDO:Lexical, OMIM:309583] synonym: "Snyder-Robinson intellectual disability syndrome" EXACT [DOID:0060802, OMIM:309583] synonym: "Snyder-Robinson mental retardation syndrome" EXACT DEPRECATED [DOID:0060802, OMIM:309583] synonym: "Snyder-Robinson syndrome" EXACT [DOID:0060802, Orphanet:3063] synonym: "spermine synthase deficiency" EXACT [DOID:0060802] synonym: "SRS" EXACT ABBREVIATION [DOID:0060802] synonym: "syndromic X-linked intellectual disability Snyder type" EXACT [] synonym: "X-linked intellectual disability Snyder-Robinson type" RELATED [GARD:0005615] synonym: "X-linked intellectual disability, Snyder type" RELATED [Orphanet:3063] synonym: "X-linked mental retardation Snyder-Robinson type" RELATED DEPRECATED [GARD:0005615] xref: DOID:0060802 {source="MONDO:equivalentTo"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536678 {source="MONDO:equivalentTo"} xref: OMIM:309583 {source="Orphanet:3063/e", source="MONDO:equivalentTo", source="DOID:0060802", source="Orphanet:3063"} xref: Orphanet:3063 {source="MONDO:equivalentTo", source="DOID:0060802", source="OMIM:309583"} xref: SCTID:702416008 {source="MONDO:equivalentTo"} xref: UMLS:C0796160 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:309583", source="Orphanet:3063"} is_a: MONDO:0020119 {source="DC-OMIM:309583", source="DOID:0060802", source="OMIM:309583", source="Orphanet:3063", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability is_a: MONDO:0800159 {source="PMID:33340416"} ! disorder of polyamine metabolism property_value: exactMatch DOID:0060802 property_value: exactMatch http://identifiers.org/mesh/C536678 property_value: exactMatch http://identifiers.org/snomedct/702416008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796160 property_value: exactMatch https://omim.org/entry/309583 property_value: exactMatch Orphanet:3063 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010665 name: Wilson-Turner syndrome def: "A very rare genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature." [Orphanet:3459] subset: gard_rare {source="GARD:0005579"} subset: ordo_malformation_syndrome {source="Orphanet:3459"} synonym: "intellectual disability, X-linked, syndromic 6" EXACT [DOID:0060814] synonym: "intellectual disability, X-linked, syndromic 6 (formerly)" RELATED [GARD:0005579] synonym: "intellectual disability, X-linked, with gynecomastia and obesity" EXACT [DOID:0060814, OMIM:309585] synonym: "intellectual disability, X-linked, with gynecomastia and obesity (formerly)" RELATED [GARD:0005579] synonym: "mental retardation, X-linked, syndromic 6" EXACT DEPRECATED [DOID:0060814] synonym: "mental retardation, X-linked, syndromic 6 (formerly)" RELATED DEPRECATED [GARD:0005579] synonym: "mental retardation, X-linked, with gynecomastia and obesity" EXACT DEPRECATED [DOID:0060814, OMIM:309585] synonym: "mental retardation, X-linked, with gynecomastia and obesity (formerly)" RELATED DEPRECATED [GARD:0005579] synonym: "MRXS6" EXACT ABBREVIATION [DOID:0060814] synonym: "Wilson Turner intellectual disability syndrome (formerly)" RELATED [GARD:0005579] synonym: "Wilson Turner mental retardation syndrome (formerly)" RELATED DEPRECATED [GARD:0005579] synonym: "Wilson-Turner syndrome, X-linked recessive" EXACT [OMIM:309585, OMIM:genemap2] synonym: "Wilson-TURNER X-linked intellectual disability syndrome" RELATED [MONDO:Lexical, OMIM:309585] synonym: "Wilson-TURNER X-linked mental retardation syndrome" RELATED DEPRECATED [MONDO:Lexical, OMIM:309585] synonym: "WTS" EXACT ABBREVIATION [DOID:0060814, MONDO:Lexical, OMIM:309585, Orphanet:3459] synonym: "X-linked intellectual disability - gynecomastia - obesity" RELATED [GARD:0005579] synonym: "X-linked intellectual disability-gynecomastia-obesity syndrome" EXACT [DOID:0060814, Orphanet:3459] xref: DOID:0060814 {source="MONDO:equivalentTo"} xref: MESH:C536708 {source="MONDO:equivalentTo"} xref: OMIM:309585 {source="MONDO:equivalentTo", source="Orphanet:3459", source="Orphanet:3459/e", source="DOID:0060814"} xref: Orphanet:3459 {source="MONDO:equivalentTo", source="OMIM:309585", source="DOID:0060814"} xref: SCTID:719834005 {source="MONDO:equivalentTo"} is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch DOID:0060814 property_value: exactMatch http://identifiers.org/mesh/C536708 property_value: exactMatch http://identifiers.org/snomedct/719834005 property_value: exactMatch https://omim.org/entry/309585 property_value: exactMatch Orphanet:3459 property_value: excluded_subClassOf MONDO:0016565 {source="Orphanet:3459"} property_value: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:309585", source="DOID:0060814", source="OMIM:309585", source="Orphanet:3459"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5579/wilson-turner-syndrome xsd:anyURI {source="GARD:0005579"} [Term] id: MONDO:0010667 name: Prieto syndrome def: "This syndrome is characterized by intellectual deficit associated with facial dysmorphism, patella luxation, and abnormal growth of the teeth." [Orphanet:2958] subset: ordo_malformation_syndrome {source="Orphanet:2958"} synonym: "intellectual disability, X-linked, syndromic 2" RELATED [OMIM:309610] synonym: "intellectual disability, X-linked, with Dysmorphism and cerebral atrophy" RELATED [OMIM:309610] synonym: "mental retardation, X-linked, syndromic 2" RELATED DEPRECATED [OMIM:309610] synonym: "mental retardation, X-linked, with Dysmorphism and cerebral atrophy" RELATED DEPRECATED [OMIM:309610] synonym: "MRXS2" RELATED ABBREVIATION [GARD:0004482] synonym: "Prieto syndrome, X-linked recessive" EXACT [OMIM:309610, OMIM:genemap2] synonym: "Prieto X-linked intellectual disability syndrome" RELATED [MONDO:Lexical, OMIM:309610] synonym: "Prieto X-linked mental retardation syndrome" RELATED DEPRECATED [MONDO:Lexical, OMIM:309610] synonym: "Prieto-Badia-Mulas syndrome" EXACT [DOID:0060805, Orphanet:2958] synonym: "PRS" RELATED DEPRECATED [MONDO:Lexical, OMIM:309610] synonym: "X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome" EXACT [DOID:0060805] xref: DOID:0060805 {source="MONDO:equivalentTo"} xref: MESH:C535274 {source="MONDO:equivalentTo"} xref: OMIM:309610 {source="Orphanet:2958/e", source="MONDO:equivalentTo", source="Orphanet:2958", source="DOID:0060805"} xref: Orphanet:2958 {source="OMIM:309610", source="MONDO:equivalentTo", source="DOID:0060805"} xref: SCTID:719140001 {source="MONDO:equivalentTo"} is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch DOID:0060805 property_value: exactMatch http://identifiers.org/mesh/C535274 property_value: exactMatch http://identifiers.org/snomedct/719140001 property_value: exactMatch https://omim.org/entry/309610 property_value: exactMatch Orphanet:2958 property_value: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:309610", source="DOID:0060805", source="OMIM:309610", source="Orphanet:2958"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010668 name: skeletal dysplasia-intellectual disability syndrome def: "Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked." [Orphanet:1436] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1436"} synonym: "Christian syndrome" EXACT [GARD:0003520, OMIM:309620, Orphanet:1436] synonym: "intellectual disability skeletal dysplasia abducens palsy" RELATED [GARD:0003520] synonym: "intellectual disability, skeletal dysplasia, and abducens palsy" RELATED [MONDO:Lexical, OMIM:309620] synonym: "mental retardation skeletal dysplasia abducens palsy" RELATED DEPRECATED [GARD:0003520] synonym: "mental retardation, skeletal dysplasia, and abducens palsy" RELATED DEPRECATED [MONDO:Lexical, OMIM:309620] synonym: "mental retardation-skeletal dysplasia" EXACT [OMIM:309620, OMIM:genemap2] synonym: "MRSD" RELATED DEPRECATED [MONDO:Lexical, OMIM:309620] synonym: "X-linked skeletal dysplasia-intellectual disability syndrome" RELATED [Orphanet:1436] xref: MESH:C564101 {source="MONDO:equivalentTo"} xref: OMIM:309620 {source="GARD:0003520", source="MONDO:equivalentTo", source="Orphanet:1436", source="Orphanet:1436/e"} xref: Orphanet:1436 {source="GARD:0003520", source="MONDO:equivalentTo", source="OMIM:309620"} xref: SCTID:722478008 {source="MONDO:equivalentTo"} xref: UMLS:C1839729 {source="GARD:0003520", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:309620"} is_a: MONDO:0015246 {source="Orphanet:1436"} ! syndromic anorectal malformation is_a: MONDO:0019694 {source="Orphanet:1436"} ! spondylodysplastic dysplasia is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch http://identifiers.org/mesh/C564101 property_value: exactMatch http://identifiers.org/snomedct/722478008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839729 property_value: exactMatch https://omim.org/entry/309620 property_value: exactMatch Orphanet:1436 property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:1436"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3520/mental-retardation-skeletal-dysplasia-abducens-palsy xsd:anyURI {source="GARD:0003520"} [Term] id: MONDO:0010669 name: syndactyly type 8 def: "Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers." [Orphanet:2498] subset: gard_rare subset: ordo_morphological_anomaly {source="Orphanet:2498"} synonym: "FGF16 non-syndromic syndactyly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "fusion of metacarpals 4 and 5" EXACT [Orphanet:2498] synonym: "metacarpal 4-5 fusion" RELATED [MONDO:Lexical, OMIM:309630] synonym: "metacarpal 4-5 fusion, X-linked recessive" EXACT [OMIM:309630, OMIM:genemap2] synonym: "metacarpals 4 and 5 fusion" RELATED [GARD:0003559] synonym: "MF4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:309630] synonym: "non-syndromic syndactyly caused by mutation in FGF16" EXACT [MONDO:design_pattern] xref: DOID:0111813 {source="MONDO:equivalentTo"} xref: MESH:C564100 {source="MONDO:equivalentTo"} xref: OMIM:309630 {source="Orphanet:2498", source="GARD:0003559", source="MONDO:equivalentTo", source="Orphanet:2498/e"} xref: Orphanet:2498 {source="GARD:0003559", source="MONDO:equivalentTo", source="OMIM:309630"} xref: SCTID:715442006 {source="MONDO:equivalentTo"} xref: UMLS:C1839728 {source="Orphanet:2498", source="GARD:0003559", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:309630"} is_a: MONDO:0019530 {source="MONDO:Redundant", source="Orphanet:2498"} ! non-syndromic syndactyly property_value: exactMatch DOID:0111813 property_value: exactMatch http://identifiers.org/mesh/C564100 property_value: exactMatch http://identifiers.org/snomedct/715442006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839728 property_value: exactMatch https://omim.org/entry/309630 property_value: exactMatch Orphanet:2498 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3559/metacarpals-4-and-5-fusion xsd:anyURI {source="GARD:0003559"} [Term] id: MONDO:0010670 name: X-linked intellectual disability-spastic quadriparesis syndrome subset: ordo_disease {source="Orphanet:163982"} synonym: "intellectual disability with spastic paraplegia" RELATED [OMIM:309640] synonym: "mental retardation with spastic paraplegia" RELATED DEPRECATED [OMIM:309640] xref: MESH:C564099 {source="MONDO:equivalentTo"} xref: OMIM:309640 {source="MONDO:equivalentTo", source="Orphanet:163982", source="Orphanet:163982/e"} xref: Orphanet:163982 {source="MONDO:equivalentObsolete", source="OMIM:309640"} xref: UMLS:C1839727 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:309640"} is_a: MONDO:0020119 {source="Orphanet:163982", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch http://identifiers.org/mesh/C564099 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839727 property_value: exactMatch https://omim.org/entry/309640 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010672 name: linear skin defects with multiple congenital anomalies def: "A genetic condition that affects the eyes and skin. It is mainly found in females and is characterized by small or poorly developed eyes (microphthalmia) and characteristic linear skin markings on the head and neck. The signs and symptoms of this condition may include abnormalities of the brain, heart, and genitourinary system. Other symptoms may include short stature, developmental delay, and finger and toenails that do not grow normally (nail dystrophy). MLS syndrome is typically caused by either a deletion of certain genetic material on the p (short) arm of the X chromosome or by a mutation in the HCCS gene. In some cases, it may be caused by mutations in the COX7B and NDUFB11 genes, (also located on the X chromosome). According to the mutated gene, the disease may be classified in three subtypes. This condition is inherited in an X-linked manner and is thought to result in serious early developmental concerns in males, leading to almost no males with this condition surviving to delivery.Although there is no specific treatment or cure for MLS syndrome, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person's symptoms." [https://rarediseases.info.nih.gov/diseases/3659/microphthalmia-with-linear-skin-defects-syndrome] comment: Editor notes: Renamed from MICROPHTHALMIA, SYNDROMIC 7; MCOPS7 by OMIM on 5/15/15. Placed in both PS309801 and PS309800 by OMIM. {source="MONDO:DC"} subset: gard_rare {source="GARD:0003659"} subset: ordo_malformation_syndrome {source="Orphanet:2556"} synonym: "linear skin defects with multiple congenital anomalies" EXACT [OMIMPS:309801] synonym: "linear skin defects with multiple congenital anomalies 1" RELATED [GARD:0003659, MONDO:Lexical, OMIM:309801] synonym: "linear skin defects with multiple congenital anomalies type 1" EXACT [MONDORULE:1, OMIM:309801] synonym: "LSDMCA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:309801] synonym: "MCOPS7" EXACT ABBREVIATION [Orphanet:2556] synonym: "microphthalmia dermal aplasia and sclerocornea syndrome" RELATED [GARD:0003659] synonym: "microphthalmia with linear skin defects syndrome" EXACT [GARD:0003659] synonym: "microphthalmia-dermal aplasia-sclerocornea syndrome" EXACT [Orphanet:2556] synonym: "Micropthalmia syndromic 7" RELATED [GARD:0003659] synonym: "MIDAS syndrome" EXACT [Orphanet:2556] synonym: "MLS syndrome" EXACT [Orphanet:2556] synonym: "syndromic microphthalmia type 7" EXACT [Orphanet:2556] xref: DOID:0111875 {source="MONDO:equivalentTo"} xref: MESH:C537466 {source="MONDO:equivalentTo"} xref: OMIMPS:309801 {source="MONDO:equivalentTo"} xref: Orphanet:2556 {source="OMIM:309801", source="MONDO:equivalentTo"} xref: SCTID:721879006 {source="MONDO:equivalentTo"} is_a: MONDO:0015246 {source="Orphanet:2556"} ! syndromic anorectal malformation is_a: MONDO:0016073 {source="DC-OMIM:309801", source="Orphanet:2556"} ! syndromic microphthalmia is_a: MONDO:0957001 ! hereditary mixed dermis disorder property_value: exactMatch DOID:0111875 property_value: exactMatch http://identifiers.org/mesh/C537466 property_value: exactMatch http://identifiers.org/snomedct/721879006 property_value: exactMatch https://omim.org/phenotypicSeries/PS309801 property_value: exactMatch Orphanet:2556 property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:2556", source="https://clinicalgenome.org/affiliation/40060/"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3659/microphthalmia-with-linear-skin-defects-syndrome xsd:anyURI {source="GARD:0003659"} [Term] id: MONDO:0010674 name: mucopolysaccharidosis type 2 def: "A lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." [Orphanet:580] subset: ordo_disease {source="Orphanet:580"} synonym: "attenuated MPS (subtype; formerly known as mild MPS II)" EXACT [GARD:0006675] synonym: "deficiency of iduronate-2-sulphatase" EXACT [DOID:12799] synonym: "Hunter syndrome" EXACT [DOID:12799, Orphanet:580] synonym: "Hunter's syndrome" EXACT [DOID:12799] synonym: "I2S deficiency" EXACT [GARD:0006675] synonym: "IDS deficiency" EXACT [OMIM:309900] synonym: "iduronate 2-sulfatase deficiency" EXACT [OMIM:309900, Orphanet:580] synonym: "MPS 2" EXACT [OMIM:309900] synonym: "MPS II" EXACT [GARD:0006675] synonym: "MPS II - Hunter syndrome" EXACT [DOID:12799] synonym: "MPS with skin involvement" EXACT [Orphanet:79388] synonym: "MPS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:309900, Orphanet:580] synonym: "MPSII" EXACT ABBREVIATION [Orphanet:580] synonym: "mucopolysaccharidosis II" EXACT [DOID:12799] synonym: "mucopolysaccharidosis II, X-linked recessive" EXACT [OMIM:309900, OMIM:genemap2] synonym: "mucopolysaccharidosis type 2" EXACT [] synonym: "mucopolysaccharidosis type II" EXACT [DOID:12799, MONDORULE:3, Orphanet:580] synonym: "mucopolysaccharidosis with skin involvement" EXACT [MONDO:0019302] synonym: "mucopolysaccharidosis, MPS-II" EXACT [DOID:12799] synonym: "mucopolysaccharidosis, type 2" EXACT [OMIM:309900] synonym: "mucopolysaccharidosis, type II" EXACT [MONDO:Lexical, OMIM:309900] synonym: "severe MPS II" EXACT [GARD:0006675] synonym: "SIDS deficiency" EXACT [OMIM:309900] synonym: "sulfoiduronate sulfatase deficiency" EXACT [OMIM:309900] xref: DOID:12799 {source="MONDO:equivalentTo"} xref: ICD10CM:E76.1 {source="DOID:12799", source="MONDO:equivalentTo", source="Orphanet:580/specific", source="Orphanet:580", source="Orphanet:580/e"} xref: MedDRA:10056889 {source="Orphanet:580", source="Orphanet:580/e"} xref: MESH:D016532 {source="DOID:12799", source="MONDO:equivalentTo", source="Orphanet:580", source="Orphanet:580/e"} xref: NCIT:C61260 {source="DOID:12799", source="MONDO:equivalentTo"} xref: OMIM:309900 {source="DOID:12799", source="MONDO:equivalentTo", source="Orphanet:580", source="Orphanet:580/e"} xref: Orphanet:580 {source="OMIM:309900", source="MONDO:equivalentTo"} xref: Orphanet:79388 {source="MONDO:equivalentTo"} xref: SCTID:70737009 {source="DOID:12799", source="MONDO:equivalentTo"} xref: UMLS:C0026705 {source="DOID:12799", source="OMIM:309900", source="MONDO:equivalentTo", source="NCIT:C61260", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:580", source="Orphanet:580/e"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C61260"} ! syndromic disease is_a: MONDO:0019249 {source="DOID:12799", source="MESH:D016532", source="MONDO:Redundant", source="NCIT:C61260", source="OMIM:309900", source="Orphanet:580"} ! mucopolysaccharidosis is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement property_value: closeMatch http://identifiers.org/meddra/10056889 property_value: exactMatch DOID:12799 property_value: exactMatch http://identifiers.org/mesh/D016532 property_value: exactMatch http://identifiers.org/snomedct/70737009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026705 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E76.1 property_value: exactMatch https://omim.org/entry/309900 property_value: exactMatch NCIT:C61260 property_value: exactMatch Orphanet:580 property_value: exactMatch Orphanet:79388 property_value: excluded_subClassOf MONDO:0015920 {source="Orphanet:580"} property_value: excluded_subClassOf MONDO:0016326 {source="Orphanet:580"} property_value: excluded_subClassOf MONDO:0019301 {source="Orphanet:79388"} property_value: excluded_subClassOf MONDO:0019706 {source="Orphanet:580"} property_value: excluded_subClassOf MONDO:0020158 {source="MONDO:0020169-obsoleted"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3787 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0010679 name: Duchenne muscular dystrophy def: "Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle." [Orphanet:98896] subset: gard_rare {source="GARD:0006291"} subset: ordo_disease {source="Orphanet:98896"} synonym: "DMD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:310200, Orphanet:98896] synonym: "Duchenne muscular dystrophy" EXACT [OMIM:310200] synonym: "Duchenne muscular dystrophy, X-linked recessive" EXACT [OMIM:310200, OMIM:genemap2] synonym: "muscular dystrophy, Duchenne" EXACT [DOID:11723] synonym: "muscular dystrophy, Duchenne type" RELATED [MONDO:Lexical, OMIM:310200] synonym: "muscular dystrophy, pseudohypertrophic progressive, Duchenne type" RELATED [OMIM:310200] synonym: "severe dystrophinopathy, Duchenne type" EXACT [Orphanet:98896] xref: DOID:11723 {source="MONDO:equivalentTo"} xref: MedDRA:10013801 {source="Orphanet:98896", source="Orphanet:98896/e"} xref: MESH:D020388 {source="DOID:11723", source="Orphanet:98896", source="MONDO:equivalentTo", source="Orphanet:98896/e"} xref: NCIT:C75482 {source="DOID:11723", source="MONDO:equivalentTo"} xref: OMIM:310200 {source="DOID:11723", source="Orphanet:98896", source="MONDO:equivalentTo", source="Orphanet:98896/e"} xref: Orphanet:98896 {source="MONDO:equivalentTo", source="OMIM:310200"} xref: SCTID:76670001 {source="DOID:11723", source="MONDO:equivalentTo"} xref: UMLS:C0013264 {source="DOID:11723", source="Orphanet:98896", source="MONDO:equivalentTo", source="OMIM:310200", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C75482", source="Orphanet:98896/e"} is_a: MONDO:0010542 ! dilated cardiomyopathy 3B is_a: MONDO:0016899 {source="Orphanet:98896"} ! Duchenne and Becker muscular dystrophy property_value: closeMatch http://identifiers.org/meddra/10013801 property_value: exactMatch DOID:11723 property_value: exactMatch http://identifiers.org/mesh/D020388 property_value: exactMatch http://identifiers.org/snomedct/76670001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013264 property_value: exactMatch https://omim.org/entry/310200 property_value: exactMatch NCIT:C75482 property_value: exactMatch Orphanet:98896 property_value: excluded_subClassOf MONDO:0015368 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5658 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6291/duchenne-muscular-dystrophy xsd:anyURI {source="GARD:0006291"} [Term] id: MONDO:0010680 name: X-linked Emery-Dreifuss muscular dystrophy def: "X-linked form of Emery-Dreifuss muscular dystrophy." [MONDO:patterns/x_linked] subset: ordo_etiological_subtype {source="Orphanet:98863"} synonym: "EDMD1" EXACT ABBREVIATION [DOID:0070246, MONDO:Lexical, OMIM:310300, Orphanet:98863] synonym: "Ehlers-Danlos syndrome, classic-like, 1" RELATED [OMIM:310300, OMIM:genemap2] synonym: "EMD1" EXACT ABBREVIATION [DOID:0070246] synonym: "Emerinopathy" EXACT [Orphanet:98863] synonym: "EMERY-Dreifuss muscular dystrophy 1, X-linked" RELATED [MONDO:Lexical, OMIM:310300] synonym: "Emery-Dreifuss muscular dystrophy 1, X-linked" EXACT [DOID:0070246] synonym: "Emery-Dreifuss muscular dystrophy, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "Humeroperoneal neuromuscular disease" RELATED [OMIM:310300] synonym: "humeroperoneal neuromuscular disease" EXACT [DOID:0070246] synonym: "Humeroperoneal neuromuscular disease, formerly" RELATED [OMIM:310300] synonym: "muscular dystrophy, tardive Emery-Dreifuss type, with contractures" RELATED [GARD:0002102] synonym: "muscular dystrophy, tardive, Dreifuss-Emery type, with contractures" EXACT [DOID:0070246] synonym: "scapuloperoneal syndrome, X-linked" EXACT [DOID:0070246, OMIM:310300] synonym: "scapuloperoneal syndrome, X-linked, formerly" RELATED [OMIM:310300] synonym: "X-linked Emery-Dreifuss muscular dystrophy" EXACT [] xref: DOID:0070246 {source="MONDO:equivalentTo"} xref: MESH:D000083143 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: NCIT:C168730 {source="MONDO:equivalentTo"} xref: OMIM:310300 {source="Orphanet:98863", source="MONDO:equivalentTo", source="DOID:0070246", source="Orphanet:98863/e"} xref: Orphanet:98863 {source="MONDO:equivalentTo", source="OMIM:310300"} xref: UMLS:C0751337 {source="Orphanet:98863", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:310300", source="Orphanet:98863/e"} xref: UMLS:C2931858 {source="MONDO:relatedTo", source="MONDO:notFoundInDiseaseSubset", source="OMIM:310300"} xref: UMLS:CN069573 {source="MONDO:equivalentTo"} is_a: MONDO:0000425 ! X-linked disease is_a: MONDO:0016196 {source="Orphanet:98863"} ! qualitative or quantitative defects of emerin is_a: MONDO:0016830 {source="DOID:0070246", source="MONDO:Redundant", source="OMIM:310300", source="Orphanet:98863"} ! Emery-Dreifuss muscular dystrophy is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy property_value: exactMatch DOID:0070246 property_value: exactMatch http://identifiers.org/mesh/D000083143 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751337 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN069573 property_value: exactMatch https://omim.org/entry/310300 property_value: exactMatch NCIT:C168730 property_value: exactMatch Orphanet:98863 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5537 xsd:anyURI property_value: relatedMatch http://linkedlifedata.com/resource/umls/id/C2931858 [Term] id: MONDO:0010683 name: X-linked centronuclear myopathy def: "A rare X-linked congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and that presents at birth with marked weakness, hypotonia and respiratory failure." [Orphanet:596] subset: ordo_disease {source="Orphanet:596"} synonym: "centronuclear myopathy, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "CNMX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:310400] synonym: "MTM" EXACT ABBREVIATION [NCIT:C118781] synonym: "myopathy, centronuclear, X-linked" RELATED [MONDO:Lexical, OMIM:310400] synonym: "myotubular myopathy 1" RELATED [OMIM:310400] synonym: "myotubular myopathy, X-linked" RELATED [OMIM:310400] synonym: "myotubular myopathy, X-linked, X-linked recessive" EXACT [OMIM:310400, OMIM:genemap2] synonym: "X-linked centronuclear myopathy" EXACT [] synonym: "X-linked myotubular myopathy" EXACT [Orphanet:596] synonym: "XLCNM" EXACT ABBREVIATION [Orphanet:596] synonym: "XLMTM" EXACT ABBREVIATION [Orphanet:596] xref: DOID:0111225 {source="MONDO:equivalentTo"} xref: NCIT:C118781 {source="MONDO:equivalentTo"} xref: OMIM:310400 {source="Orphanet:596/e", source="MONDO:equivalentTo", source="Orphanet:596"} xref: Orphanet:596 {source="MONDO:equivalentTo", source="OMIM:310400"} xref: SCTID:46804001 {source="MONDO:equivalentTo"} xref: UMLS:C0410203 {source="NCIT:C118781", source="Orphanet:596/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:310400", source="Orphanet:596"} is_a: MONDO:0000425 ! X-linked disease is_a: MONDO:0018947 {source="DC-OMIM:310400", source="MONDO:Redundant", source="OMIM:310400", source="Orphanet:596"} ! centronuclear myopathy property_value: exactMatch DOID:0111225 property_value: exactMatch http://identifiers.org/snomedct/46804001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0410203 property_value: exactMatch https://omim.org/entry/310400 property_value: exactMatch NCIT:C118781 property_value: exactMatch Orphanet:596 property_value: excluded_subClassOf MONDO:0002921 {source="NCIT:C118781", source="OMIM:310400"} property_value: excluded_subClassOf MONDO:0016154 {source="Orphanet:596"} property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:596"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010684 name: X-linked myopathy with excessive autophagy def: "X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterized by slow progression of muscle weakness and unique histopathological findings." [Orphanet:25980] subset: gard_rare {source="GARD:0003892"} subset: ordo_disease {source="Orphanet:25980"} synonym: "MEAX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:310440] synonym: "myopathy, X-linked, with excessive autophagy" RELATED [GARD:0003892, MONDO:Lexical, OMIM:310440] synonym: "myopathy, X-linked, with excessive autophagy, X-linked recessive" EXACT [OMIM:310440, OMIM:genemap2] synonym: "vacuolar myopathy" EXACT [Orphanet:25980] synonym: "XMEA" EXACT ABBREVIATION [DOID:0050760, OMIM:310440, Orphanet:25980] xref: DOID:0050760 {source="MONDO:equivalentTo"} xref: MESH:C536522 {source="MONDO:equivalentTo"} xref: OMIM:310440 {source="Orphanet:25980/e", source="MONDO:equivalentTo", source="Orphanet:25980"} xref: Orphanet:25980 {source="OMIM:310440", source="MONDO:equivalentTo"} xref: SCTID:719815005 {source="MONDO:equivalentTo"} xref: UMLS:C1839615 {source="OMIM:310440", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:25980"} xref: UMLS:C2931230 {source="MONDO:equivalentTo", source="Orphanet:25980"} is_a: MONDO:0016106 {source="Orphanet:25980"} ! progressive muscular dystrophy is_a: MONDO:0016112 {source="Orphanet:25980"} ! hereditary inclusion-body myopathy property_value: exactMatch DOID:0050760 property_value: exactMatch http://identifiers.org/mesh/C536522 property_value: exactMatch http://identifiers.org/snomedct/719815005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839615 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931230 property_value: exactMatch https://omim.org/entry/310440 property_value: exactMatch Orphanet:25980 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3892/x-linked-myopathy-with-excessive-autophagy xsd:anyURI {source="GARD:0003892"} [Term] id: MONDO:0010686 name: N syndrome def: "N syndrome is characterized by intellectual deficit, deafness, ocular anomalies, T-cell leukemia, cryptorchidism, hypospadias and spasticity." [Orphanet:2608] subset: gard_rare {source="GARD:0003902"} subset: ordo_malformation_syndrome {source="Orphanet:2608"} synonym: "intellectual disability, malformations, chromosome breakage, and development of T-cell leukaemia" RELATED OMO:0003005 [] synonym: "intellectual disability, malformations, chromosome breakage, and development of T-cell leukemia" RELATED [GARD:0003902] synonym: "mental retardation, malformations, chromosome breakage, and development of T-cell leukaemia" RELATED OMO:0003005 [] synonym: "mental retardation, malformations, chromosome breakage, and development of T-cell leukemia" RELATED DEPRECATED [GARD:0003902] synonym: "N syndrome" EXACT [MONDO:Lexical, OMIM:310465] synonym: "NSX" EXACT ABBREVIATION [DOID:0050769, MONDO:Lexical, OMIM:310465] xref: DOID:0050769 {source="MONDO:equivalentTo"} xref: MESH:C536108 {source="Orphanet:2608/e", source="MONDO:equivalentTo", source="Orphanet:2608"} xref: OMIM:310465 {source="Orphanet:2608/e", source="MONDO:equivalentTo", source="DOID:0050769", source="Orphanet:2608"} xref: Orphanet:2608 {source="MONDO:equivalentTo", source="OMIM:310465", source="DOID:0050769"} xref: SCTID:723410002 {source="MONDO:equivalentTo"} xref: UMLS:C2936859 {source="Orphanet:2608/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2608"} is_a: MONDO:0015159 {source="Orphanet:2608"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015356 {source="Orphanet:2608"} ! hereditary neoplastic syndrome property_value: exactMatch DOID:0050769 property_value: exactMatch http://identifiers.org/mesh/C536108 property_value: exactMatch http://identifiers.org/snomedct/723410002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2936859 property_value: exactMatch https://omim.org/entry/310465 property_value: exactMatch Orphanet:2608 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3902/n-syndrome xsd:anyURI {source="GARD:0003902"} [Term] id: MONDO:0010689 name: Charcot-Marie-Tooth disease X-linked recessive 4 def: "X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype." [Orphanet:101078] subset: ordo_disease {source="Orphanet:101078"} synonym: "axonal motor sensory neuropathy with deafness and intellectual disability" EXACT [DOID:0110212] synonym: "axonal motor sensory neuropathy with deafness and mental retardation" EXACT DEPRECATED [DOID:0110212] synonym: "Charcot-Marie-Tooth disease with deafness and intellectual disability" EXACT [DOID:0110212, OMIM:310490] synonym: "Charcot-Marie-Tooth disease with deafness and mental retardation" EXACT DEPRECATED [DOID:0110212, OMIM:310490] synonym: "Charcot-Marie-Tooth disease X-linked recessive type 4" EXACT [DOID:0110212, MONDORULE:1] synonym: "Charcot-Marie-Tooth disease, X-linked recessive, 4" EXACT [OMIM:310490] synonym: "CMT4X" EXACT ABBREVIATION [DOID:0110212, Orphanet:101078] synonym: "CMTX 4" EXACT [GARD:0001240] synonym: "CMTX4" EXACT ABBREVIATION [DOID:0110212, Orphanet:101078] synonym: "cowchock syndrome" EXACT [DOID:0110212, MONDO:Lexical, OMIM:310490, Orphanet:101078] synonym: "Cowchock syndrome, X-linked recessive" EXACT [OMIM:310490, OMIM:genemap2] synonym: "COWCK" EXACT ABBREVIATION [DOID:0110212, MONDO:Lexical, OMIM:310490] synonym: "NADMR" EXACT ABBREVIATION [DOID:0110212, OMIM:310490] synonym: "NAMSD" EXACT ABBREVIATION [DOID:0110212] synonym: "neuropathy, axonal motor-sensory with deafness and intellectual disability" RELATED [GARD:0001240] synonym: "neuropathy, axonal motor-sensory with deafness and mental retardation" RELATED DEPRECATED [GARD:0001240] synonym: "neuropathy, axonal motor-sensory, with deafness and intellectual disability" RELATED [OMIM:310490] synonym: "neuropathy, axonal motor-sensory, with deafness and mental retardation" RELATED DEPRECATED [OMIM:310490] synonym: "X-linked Charcot-Marie-Tooth disease type 4" EXACT [DOID:0110212] xref: DOID:0110212 {source="MONDO:equivalentTo"} xref: OMIM:310490 {source="Orphanet:101078", source="MONDO:equivalentTo", source="Orphanet:101078/e", source="DOID:0110212"} xref: Orphanet:101078 {source="OMIM:310490", source="MONDO:equivalentTo", source="DOID:0110212"} xref: SCTID:763400005 {source="MONDO:equivalentTo"} is_a: MONDO:0018994 {source="DOID:0110212", source="Orphanet:101078"} ! Charcot-Marie-Tooth disease type X property_value: exactMatch DOID:0110212 property_value: exactMatch http://identifiers.org/snomedct/763400005 property_value: exactMatch https://omim.org/entry/310490 property_value: exactMatch Orphanet:101078 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010691 name: Norrie disease def: "A rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." [Orphanet:649] subset: gard_rare {source="GARD:0007224"} subset: ordo_malformation_syndrome {source="Orphanet:649"} synonym: "Anderson-Warburg syndrome" RELATED [GARD:0007224] synonym: "atrophia bulborum hereditaria" EXACT [DOID:0060844, OMIM:310600, Orphanet:649] synonym: "Episkopi blindness" EXACT [DOID:0060844, OMIM:310600, Orphanet:649] synonym: "fetal iritis syndrome" RELATED [GARD:0007224] synonym: "foetal iritis syndrome" RELATED OMO:0003005 [] synonym: "ND" RELATED ABBREVIATION [MONDO:Lexical, OMIM:310600] synonym: "nd" RELATED [OMIM:310600] synonym: "NDP" RELATED ABBREVIATION [GARD:0007224] synonym: "Norrie disease" EXACT [MONDO:Lexical, OMIM:310600] synonym: "Norrie disease, X-linked recessive" EXACT [OMIM:310600, OMIM:genemap2] synonym: "Norrie syndrome" RELATED [GARD:0007224] synonym: "Norrie-Warburg disease" EXACT [DOID:0060844, Orphanet:649] synonym: "Norrie-Warburg syndrome" RELATED [GARD:0007224] synonym: "pseudoglioma" RELATED [GARD:0007224] xref: DOID:0060844 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:649", source="DOID:0060844", source="Orphanet:649/attributed", source="Orphanet:649/ntbt"} xref: ICD9:743.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10069760 {source="Orphanet:649", source="Orphanet:649/e"} xref: MESH:C537849 {source="MONDO:equivalentTo", source="Orphanet:649", source="DOID:0060844", source="Orphanet:649/e"} xref: NCIT:C118634 {source="MONDO:equivalentTo"} xref: OMIM:310600 {source="MONDO:equivalentTo", source="Orphanet:649", source="DOID:0060844", source="Orphanet:649/e"} xref: Orphanet:649 {source="MONDO:equivalentTo", source="DOID:0060844", source="OMIM:310600"} xref: SCTID:15228007 {source="MONDO:equivalentTo"} is_a: MONDO:0020247 {source="Orphanet:649"} ! congenital vitreoretinal dysplasia property_value: closeMatch http://identifiers.org/meddra/10069760 property_value: exactMatch DOID:0060844 property_value: exactMatch http://identifiers.org/mesh/C537849 property_value: exactMatch http://identifiers.org/snomedct/15228007 property_value: exactMatch https://omim.org/entry/310600 property_value: exactMatch NCIT:C118634 property_value: exactMatch Orphanet:649 property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:649"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7224/norrie-disease xsd:anyURI {source="GARD:0007224"} [Term] id: MONDO:0010698 name: optic atrophy 2 def: "A rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected." [Orphanet:98890] subset: ordo_disease {source="Orphanet:98890"} synonym: "non-Leber type optic atrophy with early-onset" EXACT [Orphanet:98890] synonym: "OPA2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:311050, Orphanet:98890] synonym: "optic atrophy 2" EXACT [MONDO:Lexical, OMIM:311050] synonym: "optic atrophy 2, X-linked" EXACT [OMIM:311050, OMIM:genemap2] synonym: "optic atrophy type 2" EXACT [Orphanet:98890] synonym: "optic atrophy, non-Leber type, with early onset" RELATED [OMIM:311050] synonym: "optic atrophy, X-linked" RELATED [OMIM:311050] xref: DOID:0111443 {source="MONDO:equivalentTo"} xref: MESH:C537125 {source="MONDO:equivalentTo"} xref: OMIM:311050 {source="Orphanet:98890/e", source="MONDO:equivalentTo", source="Orphanet:98890"} xref: Orphanet:98890 {source="MONDO:equivalentTo", source="OMIM:311050"} xref: SCTID:721200000 {source="MONDO:equivalentTo"} xref: UMLS:C1839576 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:98890", source="OMIM:311050"} is_a: MONDO:0043878 {source="DC-OMIM:311050", source="MESH:C537125", source="OMIM:311050"} ! hereditary optic atrophy property_value: exactMatch DOID:0111443 property_value: exactMatch http://identifiers.org/mesh/C537125 property_value: exactMatch http://identifiers.org/snomedct/721200000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839576 property_value: exactMatch https://omim.org/entry/311050 property_value: exactMatch Orphanet:98890 property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:98890"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010699 name: Charcot-Marie-Tooth disease X-linked recessive 5 def: "X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype." [Orphanet:99014] subset: clingen subset: gard_rare subset: ordo_disease {source="Orphanet:99014"} synonym: "Charcot-Marie-Tooth disease X-linked recessive type 5" EXACT [DOID:0110210, MONDORULE:1] synonym: "Charcot-Marie-Tooth disease, X-linked recessive, 5" EXACT [MONDO:Lexical, OMIM:311070] synonym: "Charcot-Marie-Tooth disease, X-linked recessive, 5, X-linked recessive" EXACT [OMIM:311070, OMIM:genemap2] synonym: "Charcot-Marie-Tooth disease, X-linked recessive, type 5" EXACT [MONDORULE:1, OMIM:311070] synonym: "Charcot-Marie-Tooth neuropathy X type 5" EXACT [GARD:0000114] synonym: "Charcot-Marie-Tooth neuropathy X-linked recessive 5" EXACT [DOID:0110210] synonym: "Charcot-Marie-Tooth neuropathy, X-linked recessive, 5" EXACT [OMIM:311070] synonym: "CMT5X" EXACT ABBREVIATION [DOID:0110210, Orphanet:99014] synonym: "CMTX5" EXACT ABBREVIATION [DOID:0110210, OMIM:311070, Orphanet:99014] synonym: "familial opticoacoustic nerve degeneration and polyneuropathy" EXACT [GARD:0000114] synonym: "optic atrophy, polyneuropathy, and deafness" EXACT [DOID:0110210, GARD:0000114, OMIM:311070] synonym: "optic atrophy, sensorineural hearing loss and polyneuropathy" EXACT [GARD:0000114] synonym: "Rosenberg-Chutorian syndrome" EXACT [DOID:0110210, GARD:0000114, OMIM:311070] synonym: "X-linked Charcot-Marie-Tooth disease type 5" EXACT [DOID:0110210] xref: DOID:0110210 {source="MONDO:equivalentTo"} xref: OMIM:311070 {source="GARD:0000114", source="Orphanet:99014/e", source="MONDO:equivalentTo", source="DOID:0110210", source="Orphanet:99014"} xref: Orphanet:99014 {source="GARD:0000114", source="MONDO:equivalentTo", source="OMIM:311070", source="DOID:0110210"} xref: SCTID:763460007 {source="MONDO:equivalentTo"} xref: UMLS:C1839566 {source="GARD:0000114", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:311070", source="Orphanet:99014"} is_a: MONDO:0018994 {source="DOID:0110210", source="Orphanet:99014"} ! Charcot-Marie-Tooth disease type X is_a: MONDO:0019236 {source="Orphanet:99014"} ! inborn disorder of purine metabolism property_value: exactMatch DOID:0110210 property_value: exactMatch http://identifiers.org/snomedct/763460007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839566 property_value: exactMatch https://omim.org/entry/311070 property_value: exactMatch Orphanet:99014 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010702 name: orofaciodigital syndrome I def: "A rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." [Orphanet:2750] subset: ordo_malformation_syndrome {source="Orphanet:2750"} synonym: "OFD syndrome 1" EXACT [GARD:0004121] synonym: "OFD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:311200, Orphanet:2750] synonym: "OFDI" EXACT ABBREVIATION [Orphanet:2750] synonym: "OFDS 1" EXACT [OMIM:311200] synonym: "OFDSI" EXACT ABBREVIATION [Orphanet:2750] synonym: "oral facial digital syndrome 1" EXACT [GARD:0004121] synonym: "oral facial digital syndrome type 1" EXACT [GARD:0004121] synonym: "oral-facial-digital syndrome 1" EXACT [GARD:0004121] synonym: "oral-facial-digital syndrome type 1" EXACT [Orphanet:2750] synonym: "oral-facial-digital syndrome, type 1" EXACT [OMIM:311200] synonym: "orofaciodigital syndrome 1" EXACT [DOID:0060316] synonym: "orofaciodigital syndrome I" EXACT [MONDO:Lexical, OMIM:311200] synonym: "orofaciodigital syndrome i, X-linked dominant" EXACT [OMIM:311200, OMIM:genemap2] synonym: "orofaciodigital syndrome type 1" EXACT [MONDORULE:1, OMIM:311200] synonym: "orofaciodigital syndrome type I" EXACT [DOID:0060316, MONDORULE:1] synonym: "Papillon-Leage and Psaume syndrome" EXACT [OMIM:311200] synonym: "Papillon-Leage-Psaume syndrome" EXACT [DOID:0060316, Orphanet:2750] synonym: "Papillon-league-Psaume syndrome (formerly)" EXACT [GARD:0004121] synonym: "Papillon-Léage-Psaume syndrome" EXACT [Orphanet:2750] xref: DOID:0060316 {source="MONDO:equivalentTo"} xref: MESH:C537134 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: NCIT:C75481 {source="MONDO:equivalentTo"} xref: OMIM:311200 {source="Orphanet:2750", source="MONDO:equivalentTo", source="DOID:0060316", source="Orphanet:2750/e"} xref: Orphanet:2750 {source="MONDO:equivalentTo", source="OMIM:311200", source="DOID:0060316"} xref: SCTID:1779005 {source="DOID:0060316", source="MONDO:directSiblingOf"} xref: SCTID:763833006 {source="MONDO:equivalentTo"} xref: UMLS:C1510460 {source="Orphanet:2750", source="NCIT:C75481", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:311200", source="DOID:0060316", source="Orphanet:2750/e"} xref: UMLS:C2698658 {source="MONDO:equivalentObsolete"} is_a: EFO:0003900 {source="Wikipedia:Ciliopathy"} ! ciliopathy is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75481"} ! syndromic disease is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder is_a: MONDO:0800085 {source="PMID:31633310"} ! dysostosis with predominant craniofacial involvement property_value: exactMatch DOID:0060316 property_value: exactMatch http://identifiers.org/mesh/C537134 property_value: exactMatch http://identifiers.org/snomedct/763833006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1510460 property_value: exactMatch https://omim.org/entry/311200 property_value: exactMatch NCIT:C75481 property_value: exactMatch Orphanet:2750 property_value: excluded_subClassOf MONDO:0015375 {source="DC-OMIM:311200", source="DOID:0060316", source="Orphanet:2750"} property_value: excluded_subClassOf MONDO:0019287 {source="Orphanet:2750"} property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:2750"} property_value: excluded_subClassOf MONDO:0021029 {source="Orphanet:2750"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0010704 name: otopalatodigital syndrome type 1 def: "The mildest form of otopalatodigital syndrome spectrum disorder that is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies." [https://orcid.org/0000-0001-5208-3432, Orphanet:90650] subset: ordo_clinical_subtype {source="Orphanet:90650"} synonym: "frontootopalatodigital osteodysplasia" RELATED [OMIM:311300] synonym: "OPD 1 syndrome" EXACT [OMIM:311300] synonym: "OPD I syndrome" EXACT [Orphanet:90650] synonym: "OPD syndrome" RELATED [GARD:0005121] synonym: "OPD syndrome 1" EXACT [OMIM:311300, Orphanet:90650] synonym: "OPD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:311300] synonym: "oto-palato-digital syndrome type 1" EXACT [GARD:0005121] synonym: "otopalatodigital spectrum disorder" RELATED [OMIM:311300] synonym: "otopalatodigital syndrome, type 1" EXACT [OMIM:311300] synonym: "otopalatodigital syndrome, type I" EXACT [MONDO:Lexical, OMIM:311300] synonym: "otopalatodigital syndrome, type I, X-linked dominant" EXACT [OMIM:311300, OMIM:genemap2] synonym: "Taybi syndrome" EXACT [Orphanet:90650] xref: DOID:0111783 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C118845 {source="MONDO:equivalentTo"} xref: OMIM:311300 {source="MONDO:equivalentTo", source="Orphanet:90650", source="Orphanet:90650/e"} xref: Orphanet:90650 {source="MONDO:equivalentTo", source="OMIM:311300"} xref: SCTID:54036001 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C118845"} ! syndromic disease is_a: MONDO:0019027 {source="OMIM:311300", source="Orphanet:90650"} ! otopalatodigital syndrome property_value: exactMatch DOID:0111783 property_value: exactMatch http://identifiers.org/snomedct/54036001 property_value: exactMatch https://omim.org/entry/311300 property_value: exactMatch NCIT:C118845 property_value: exactMatch Orphanet:90650 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0010708 name: Pallister-W syndrome def: "A syndrome characterized by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant." [Orphanet:2804] subset: ordo_malformation_syndrome {source="Orphanet:2804"} synonym: "median cleft upper lip, intellectual disability and pugilistic facies" RELATED [GARD:0000358] synonym: "median cleft upper lip, mental retardation and pugilistic facies" RELATED DEPRECATED [GARD:0000358] synonym: "Pallister W syndrome" RELATED [OMIM:311450] synonym: "Pallister-W syndrome" EXACT [Orphanet:2804] synonym: "W syndrome" EXACT [OMIM:311450] xref: MESH:C538106 {source="MONDO:equivalentTo"} xref: OMIM:311450 {source="Orphanet:2804/e", source="MONDO:equivalentTo", source="Orphanet:2804"} xref: Orphanet:2804 {source="OMIM:311450", source="MONDO:equivalentTo"} xref: SCTID:719020006 {source="MONDO:equivalentTo"} xref: UMLS:C0796110 {source="OMIM:311450", source="Orphanet:2804/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2804"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: exactMatch http://identifiers.org/mesh/C538106 property_value: exactMatch http://identifiers.org/snomedct/719020006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796110 property_value: exactMatch https://omim.org/entry/311450 property_value: exactMatch Orphanet:2804 property_value: excluded_subClassOf MONDO:0015159 {source="Orphanet:2804"} property_value: excluded_subClassOf MONDO:0015335 {source="Orphanet:2804"} property_value: excluded_subClassOf MONDO:0015650 {source="Orphanet:2804"} property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:2804"} [Term] id: MONDO:0010709 name: early-onset parkinsonism-intellectual disability syndrome def: "A basal ganglia disorder characterized by Parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter." [Orphanet:2379] subset: ordo_disease {source="Orphanet:2379"} synonym: "basal ganglia disorder with intellectual disability" RELATED [GARD:0003203] synonym: "basal ganglia disorder with mental retardation" RELATED DEPRECATED [GARD:0003203] synonym: "basal ganglion disorder with intellectual disability" RELATED [OMIM:311510] synonym: "basal ganglion disorder with mental retardation" RELATED DEPRECATED [OMIM:311510] synonym: "BGMR" RELATED ABBREVIATION [GARD:0003203] synonym: "early-onset parkinsonism-intellectual disability syndrome" EXACT [] synonym: "Laxova Brown hogan syndrome" RELATED [GARD:0003203] synonym: "Laxova-Opitz syndrome" EXACT [Orphanet:2379] synonym: "Parkinsonism, early onset with intellectual disability" RELATED [GARD:0003203] synonym: "Parkinsonism, early onset with mental retardation" RELATED DEPRECATED [GARD:0003203] synonym: "Parkinsonism, early-onset, with intellectual disability" RELATED [OMIM:311510] synonym: "Parkinsonism, early-onset, with mental retardation" RELATED DEPRECATED [OMIM:311510] synonym: "WAISMAN syndrome" RELATED [MONDO:Lexical, OMIM:311510] synonym: "Waisman syndrome" EXACT [Orphanet:2379] synonym: "Waisman syndrome, X-linked recessive" EXACT [OMIM:311510, OMIM:genemap2] synonym: "WSMN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:311510] synonym: "Wsn" RELATED [OMIM:311510] synonym: "X-linked recessive basal ganglia disorder with intellectual disability" RELATED [GARD:0003203] synonym: "X-linked recessive basal ganglia disorder with mental retardation" RELATED DEPRECATED [GARD:0003203] xref: DOID:0111781 {source="MONDO:equivalentTo"} xref: MESH:C537179 {source="MONDO:equivalentTo"} xref: OMIM:311510 {source="Orphanet:2379", source="MONDO:equivalentTo", source="Orphanet:2379/e"} xref: Orphanet:2379 {source="MONDO:equivalentTo", source="OMIM:311510"} xref: SCTID:716107009 {source="MONDO:equivalentTo"} xref: UMLS:C0796195 {source="Orphanet:2379", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:311510", source="Orphanet:2379/e"} is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability is_a: MONDO:0021095 {source="MONDO:0017661-obsoleted"} ! parkinsonian disorder property_value: exactMatch DOID:0111781 property_value: exactMatch http://identifiers.org/mesh/C537179 property_value: exactMatch http://identifiers.org/snomedct/716107009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796195 property_value: exactMatch https://omim.org/entry/311510 property_value: exactMatch Orphanet:2379 property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:2379"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010710 name: Pierre Robin syndrome-faciodigital anomaly syndrome def: "This syndrome is characterized by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints).Growth and mental development were normal." [Orphanet:2888] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2888"} synonym: "Chitayat Meunier Hodgkinson syndrome" RELATED [GARD:0001274] synonym: "Chitayat-Meunier-Hodgkinson syndrome" EXACT [Orphanet:2888] synonym: "Pierre Robin sequence with facial and digital anomalies" RELATED [OMIM:311895] synonym: "Pierre Robin sequence-faciodigital anomaly syndrome" EXACT [Orphanet:2888] synonym: "Pierre Robin syndrome, faciodigital anomaly" RELATED [GARD:0001274] synonym: "Robin sequence with facial and digital anomalies" RELATED [GARD:0001274, MESH:C535926] xref: MESH:C535926 {source="MONDO:equivalentTo"} xref: OMIM:311895 {source="MONDO:equivalentTo", source="Orphanet:2888", source="GARD:0001274", source="Orphanet:2888/e"} xref: Orphanet:2888 {source="MONDO:equivalentTo", source="OMIM:311895", source="GARD:0001274"} xref: SCTID:723461007 {source="MONDO:equivalentTo"} xref: UMLS:C2931064 {source="MONDO:equivalentTo", source="Orphanet:2888", source="GARD:0001274", source="Orphanet:2888/e"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C535926 property_value: exactMatch http://identifiers.org/snomedct/723461007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931064 property_value: exactMatch https://omim.org/entry/311895 property_value: exactMatch Orphanet:2888 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1274/chitayat-meunier-hodgkinson-syndrome xsd:anyURI {source="GARD:0001274"} [Term] id: MONDO:0010711 name: TARP syndrome def: "A rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months." [Orphanet:2886] subset: gard_rare {source="GARD:0010089"} subset: ordo_malformation_syndrome {source="Orphanet:2886"} synonym: "Pierre Robin sequence - congenital heart defect - talipes" RELATED [GARD:0010089] synonym: "Pierre Robin sequence-congenital heart defect-talipes syndrome" EXACT [Orphanet:2886] synonym: "Pierre Robin syndrome - congenital heart defect - talipes" RELATED [GARD:0010089] synonym: "Pierre Robin syndrome with congenital heart malformation and clubfoot" RELATED [OMIM:311900] synonym: "Pierre Robin syndrome-congenital heart defect-talipes syndrome" EXACT [Orphanet:2886] synonym: "talipes equinovarus - atrial septal defect - Robin sequence - persistence of the left superior vena cava" RELATED [GARD:0010089] synonym: "talipes equinovarus, atrial septal defect, Robin sequence, and persistence of left Superior vena cava" RELATED [OMIM:311900] synonym: "talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome" EXACT [Orphanet:2886] synonym: "tarp syndrome" EXACT [MONDO:Lexical, OMIM:311900] synonym: "TARP syndrome, X-linked recessive" EXACT [OMIM:311900, OMIM:genemap2] synonym: "TARPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:311900] xref: DOID:0111780 {source="MONDO:equivalentTo"} xref: MESH:C536942 {source="MONDO:equivalentTo", source="Orphanet:2886", source="Orphanet:2886/e"} xref: OMIM:311900 {source="MONDO:equivalentTo", source="Orphanet:2886", source="Orphanet:2886/e"} xref: Orphanet:2886 {source="MONDO:equivalentTo", source="OMIM:311900"} xref: SCTID:725911008 {source="MONDO:equivalentTo"} xref: UMLS:C1839463 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2886", source="OMIM:311900", source="Orphanet:2886/e"} is_a: EFO:0003777 {source="MONDO:0015506-obsoleted"} ! heart disease is_a: MONDO:0018187 {source="Orphanet:2886"} ! hereditary syndromic Pierre Robin syndrome property_value: exactMatch DOID:0111780 property_value: exactMatch http://identifiers.org/mesh/C536942 property_value: exactMatch http://identifiers.org/snomedct/725911008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839463 property_value: exactMatch https://omim.org/entry/311900 property_value: exactMatch Orphanet:2886 property_value: excluded_subClassOf MONDO:0015501 {source="MONDO:0015319-obsoleted"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10089/tarp-syndrome xsd:anyURI {source="GARD:0010089"} [Term] id: MONDO:0010713 name: properdin deficiency, X-linked def: "A rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease." [Orphanet:2966] subset: ordo_disease {source="Orphanet:2966"} synonym: "CFPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:312060] synonym: "complement Factor properdin deficiency" RELATED [OMIM:312060] synonym: "PFD" RELATED ABBREVIATION [GARD:0009913] synonym: "properdin deficiency, type 1" RELATED [OMIM:312060] synonym: "properdin deficiency, type 2" RELATED [OMIM:312060] synonym: "properdin deficiency, type 3" RELATED [OMIM:312060] synonym: "properdin deficiency, X-linked" EXACT [MONDO:Lexical, OMIM:312060] synonym: "properdin deficiency, X-linked, X-linked recessive" EXACT [OMIM:312060, OMIM:genemap2] synonym: "properdin P Factor deficiency" RELATED [OMIM:312060] xref: DOID:0111768 {source="MONDO:equivalentTo"} xref: ICD9:279.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537241 {source="MONDO:equivalentTo", source="Orphanet:2966", source="Orphanet:2966/e"} xref: OMIM:312060 {source="MONDO:equivalentTo", source="Orphanet:2966", source="Orphanet:2966/e"} xref: Orphanet:2966 {source="MONDO:equivalentTo", source="OMIM:312060"} xref: SCTID:81166004 {source="MONDO:equivalentTo"} is_a: MONDO:0003778 {source="https://orcid.org/0000-0001-5208-3432"} ! inborn error of immunity property_value: exactMatch DOID:0111768 property_value: exactMatch http://identifiers.org/mesh/C537241 property_value: exactMatch http://identifiers.org/snomedct/81166004 property_value: exactMatch https://omim.org/entry/312060 property_value: exactMatch Orphanet:2966 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010714 name: Pelizaeus-Merzbacher disease def: "An X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD." [Orphanet:702] subset: gard_rare {source="GARD:0004265"} subset: ordo_disease {source="Orphanet:702"} synonym: "diffuse familial brain sclerosis" EXACT [DOID:3210, Orphanet:702] synonym: "HLD1" EXACT ABBREVIATION [DOID:3210] synonym: "hypomyelinating leukodystrophy 1" EXACT [DOID:3210] synonym: "leukodystrophy, hypomyelinating, 1" RELATED [OMIM:312080] synonym: "leukodystrophy, sudanophilic" EXACT [DOID:3210] synonym: "Pelizaeus Merzbacher brain sclerosis" EXACT [DOID:3210] synonym: "Pelizaeus Merzbacher disease" RELATED [GARD:0004265] synonym: "Pelizaeus-Merzbacher brain sclerosis" EXACT [DOID:3210, Orphanet:702] synonym: "Pelizaeus-Merzbacher disease" EXACT [MONDO:Lexical, OMIM:312080] synonym: "Pelizaeus-Merzbacher disease, X-linked recessive" EXACT [OMIM:312080, OMIM:genemap2] synonym: "PMD" EXACT ABBREVIATION [DOID:3210, MONDO:Lexical, OMIM:312080, Orphanet:702] synonym: "Sudanophilic leukodystrophy, Paelizeus-Merzbacher type" EXACT [Orphanet:702] synonym: "sudanophilic leukodystrophy, Paelizeus-Merzbacher type" EXACT [DOID:3210] xref: DECIPHER:38 {source="MONDO:equivalentTo"} xref: DOID:3210 {source="MONDO:equivalentTo"} xref: MedDRA:10067610 {source="Orphanet:702", source="Orphanet:702/e"} xref: MESH:D020371 {source="DOID:3210", source="Orphanet:702", source="MONDO:equivalentTo", source="Orphanet:702/e"} xref: NCIT:C75487 {source="DOID:3210", source="MONDO:equivalentTo"} xref: OMIM:312080 {source="DOID:3210", source="Orphanet:702", source="MONDO:equivalentTo", source="Orphanet:702/e"} xref: Orphanet:702 {source="DOID:3210", source="MONDO:equivalentTo", source="OMIM:312080"} xref: SCTID:64855000 {source="DOID:3210", source="MONDO:equivalentTo"} xref: UMLS:C0205711 {source="DOID:3210", source="Orphanet:702", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C75487", source="OMIM:312080", source="Orphanet:702/e"} is_a: MONDO:0019046 {source="DOID:3210", source="DOID:3210/inferred", source="OMIM:312080", source="Orphanet:702"} ! leukodystrophy property_value: closeMatch http://identifiers.org/meddra/10067610 property_value: exactMatch DOID:3210 property_value: exactMatch http://identifiers.org/mesh/D020371 property_value: exactMatch http://identifiers.org/snomedct/64855000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205711 property_value: exactMatch https://omim.org/entry/312080 property_value: exactMatch NCIT:C75487 property_value: exactMatch Orphanet:702 property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:702"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4265/pelizaeus-merzbacher-disease xsd:anyURI {source="GARD:0004265"} [Term] id: MONDO:0010716 name: X-linked lethal multiple pterygium syndrome def: "X-linked form of lethal multiple pterygium syndrome." [MONDO:patterns/x_linked] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:79447"} synonym: "lethal multiple pterygium syndrome, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "multiple pterygium syndrome X-linked" RELATED [GARD:0004573] synonym: "multiple pterygium syndrome, X-linked" RELATED [OMIM:312150] synonym: "pterygium syndrome multiple X-linked" RELATED [GARD:0004573] synonym: "pterygium syndrome, multiple, X-linked" RELATED [OMIM:312150] xref: MESH:C564072 {source="MONDO:equivalentTo"} xref: OMIM:312150 {source="Orphanet:79447", source="MONDO:equivalentTo", source="Orphanet:79447/e", source="GARD:0004573"} xref: Orphanet:79447 {source="MONDO:equivalentTo", source="OMIM:312150", source="GARD:0004573"} xref: SCTID:763462004 {source="MONDO:equivalentTo"} xref: UMLS:C1839440 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:312150", source="GARD:0004573"} is_a: MONDO:0000425 ! X-linked disease is_a: MONDO:0009668 ! lethal multiple pterygium syndrome property_value: exactMatch http://identifiers.org/mesh/C564072 property_value: exactMatch http://identifiers.org/snomedct/763462004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839440 property_value: exactMatch https://omim.org/entry/312150 property_value: exactMatch Orphanet:79447 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4573/multiple-pterygium-syndrome-x-linked xsd:anyURI {source="GARD:0004573"} [Term] id: MONDO:0010717 name: pyruvate dehydrogenase E1-alpha deficiency def: "Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." [Orphanet:79243] subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:79243"} synonym: "ataxia with lactic acidosis 1" RELATED [GARD:0004620, OMIM:312170] synonym: "ataxia, intermittent, with abnormal pyruvate metabolism" RELATED [OMIM:312170] synonym: "ataxia, intermittent, with pyruvate dehydrogenase deficiency" RELATED [OMIM:312170] synonym: "ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency" RELATED [GARD:0004620] synonym: "lactic acidemia, thiamine-responsive" RELATED [OMIM:312170] synonym: "PDH deficiency" RELATED [OMIM:312170] synonym: "PDHAD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:312170, Orphanet:79243] synonym: "pyruvate decarboxylase deficiency" BROAD [Orphanet:79243] synonym: "pyruvate dehydrogenase Complex deficiency" RELATED [OMIM:312170] synonym: "pyruvate dehydrogenase complex E1 component subunit alpha deficiency" EXACT [Orphanet:79243] synonym: "pyruvate dehydrogenase E1-ALPHA deficiency" RELATED [OMIM:312170] synonym: "pyruvate dehydrogenase E1-alpha deficiency" EXACT [MONDO:Lexical, OMIM:312170] synonym: "pyruvate dehydrogenase e1-alpha deficiency, X-linked dominant" EXACT [OMIM:312170, OMIM:genemap2] xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C564071 {source="MONDO:equivalentTo"} xref: OMIM:312170 {source="GARD:0004620", source="Orphanet:79243/e", source="MONDO:equivalentTo", source="Orphanet:79243"} xref: Orphanet:79243 {source="MONDO:equivalentTo", source="OMIM:312170"} xref: SCTID:124593001 {source="MONDO:equivalentTo"} is_a: MONDO:0019169 {source="DC-OMIM:312170", source="OMIM:312170", source="Orphanet:79243"} ! pyruvate dehydrogenase deficiency property_value: exactMatch http://identifiers.org/mesh/C564071 property_value: exactMatch http://identifiers.org/snomedct/124593001 property_value: exactMatch https://omim.org/entry/312170 property_value: exactMatch Orphanet:79243 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010718 name: absent radius-anogenital anomalies syndrome def: "Absent radius-anogenital anomalies syndrome is a rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993." [Orphanet:3016] subset: ordo_malformation_syndrome {source="Orphanet:3016"} synonym: "radial aplasia and anogenital anomalies" RELATED [OMIM:312190] synonym: "radial aplasia, X-linked" RELATED [OMIM:312190] synonym: "radius absent anogenital anomalies" RELATED [GARD:0004633] xref: MESH:C535281 {source="Orphanet:3016", source="MONDO:equivalentTo", source="Orphanet:3016/e"} xref: OMIM:312190 {source="Orphanet:3016", source="MONDO:equivalentTo", source="Orphanet:3016/e"} xref: Orphanet:3016 {source="MONDO:equivalentTo", source="OMIM:312190"} xref: UMLS:C1839410 {source="Orphanet:3016", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:312190", source="Orphanet:3016/e"} is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation property_value: exactMatch http://identifiers.org/mesh/C535281 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839410 property_value: exactMatch https://omim.org/entry/312190 property_value: exactMatch Orphanet:3016 [Term] id: MONDO:0010720 name: partial androgen insensitivity syndrome def: "Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." [Orphanet:90797] subset: gard_rare {source="GARD:0005692"} subset: ordo_disease {source="Orphanet:90797"} synonym: "androgen insensitivity syndrome, partial" RELATED [GARD:0005692, GTR:AN0098649] synonym: "androgen insensitivity, partial" EXACT [MONDO:Lexical, OMIM:312300] synonym: "androgen insensitivity, partial, with or without breast cancer" EXACT [OMIM:312300] synonym: "androgen insensitivity, partial, with or without breast cancer, X-linked recessive" EXACT [OMIM:312300, OMIM:genemap2] synonym: "androgen resistance syndrome, partial" RELATED [GARD:0005692, GTR:AN0098650] synonym: "familial incomplete Male pseudohermaphroditism, type 1" EXACT [OMIM:312300] synonym: "incomplete male pseudohermaphroditism" RELATED [GTR:AN0098651] synonym: "PAIS" EXACT ABBREVIATION [GTR:AN0098652, MONDO:Lexical, OMIM:312300, Orphanet:90797] synonym: "pais" EXACT [OMIM:312300] synonym: "partial androgen resistance syndrome" EXACT [Orphanet:90797] synonym: "pseudohermaphroditism, incomplete male, type I" EXACT [MONDO:0010715, OMIM:312100] synonym: "Reifenstein syndrome" EXACT [OMIM:312300] synonym: "Reifenstein syndrome, partial" EXACT [GARD:0005692, GTR:AN0098654] synonym: "type I familial incomplete male pseudohermaphroditism" RELATED [GTR:AN0098655] xref: DOID:0080776 {source="MONDO:equivalentTo"} xref: GTR:AN0098649 xref: GTR:AN0098650 xref: GTR:AN0098651 xref: GTR:AN0098652 xref: GTR:AN0098654 xref: GTR:AN0098655 xref: ICD10CM:E34.52 {source="MONDO:equivalentTo"} xref: MESH:C538435 {source="MONDO:equivalentTo"} xref: NCIT:C120192 {source="MONDO:equivalentTo"} xref: OMIM:307300 {source="MONDO:equivalentObsolete"} xref: OMIM:312100 {source="MONDO:equivalentObsolete"} xref: OMIM:312300 {source="Orphanet:90797/e", source="MONDO:equivalentTo", source="Orphanet:90797"} xref: Orphanet:90797 {source="MONDO:equivalentTo", source="OMIM:312300"} xref: SCTID:122811000119101 {source="MONDO:equivalentTo"} xref: UMLS:CN035075 {source="MONDO:equivalentTo"} is_a: MONDO:0019154 {source="NCIT:C120192", source="Orphanet:90797"} ! androgen insensitivity syndrome is_a: MONDO:0957025 ! hereditary 46,XY disorder of sex development property_value: exactMatch DOID:0080776 property_value: exactMatch http://identifiers.org/mesh/C538435 property_value: exactMatch http://identifiers.org/snomedct/122811000119101 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN035075 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E34.52 property_value: exactMatch https://omim.org/entry/312300 property_value: exactMatch NCIT:C120192 property_value: exactMatch Orphanet:90797 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5692/partial-androgen-insensitivity-syndrome xsd:anyURI {source="GARD:0005692"} [Term] id: MONDO:0010722 name: X-linked retinal dysplasia subset: gard_rare {source="GARD:0004680"} subset: ordo_disease {source="Orphanet:1852"} synonym: "PRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:312550] synonym: "retinal dysplasia X-linked" RELATED [GARD:0004680] synonym: "retinal dysplasia, primary" RELATED [MONDO:Lexical, OMIM:312550] xref: OMIM:312550 {source="MONDO:equivalentTo", source="Orphanet:1852", source="Orphanet:1852/e"} xref: Orphanet:1852 {source="OMIM:312550", source="MONDO:equivalentTo"} xref: SCTID:715240000 {source="MONDO:equivalentTo"} xref: UMLS:C4275241 {source="MONDO:equivalentTo"} is_a: MONDO:0019118 {source="Orphanet:1852"} ! inherited retinal dystrophy property_value: exactMatch http://identifiers.org/snomedct/715240000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275241 property_value: exactMatch https://omim.org/entry/312550 property_value: exactMatch Orphanet:1852 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4680/retinal-dysplasia-x-linked xsd:anyURI {source="GARD:0004680"} [Term] id: MONDO:0010725 name: X-linked retinoschisis def: "A genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration." [Orphanet:792] subset: ordo_malformation_syndrome {source="Orphanet:792"} synonym: "juvenile retinoschisis" RELATED [GARD:0004690] synonym: "juvenile X-linked retinoschisis" EXACT [NCIT:C75483] synonym: "retinoschisis 1, X-linked, juvenile" RELATED [MONDO:Lexical, OMIM:312700] synonym: "retinoschisis juvenile X chromosome-linked" RELATED [GARD:0004690] synonym: "retinoschisis X-linked" RELATED [GARD:0004690] synonym: "retinoschisis, X-linked" EXACT [MONDO:design_pattern, MONDO:patterns/x_linked] synonym: "retinoschisis, X-linked recessive" EXACT [OMIM:312700, OMIM:genemap2] synonym: "RS" RELATED ABBREVIATION [OMIM:312700] synonym: "RS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:312700] synonym: "X-linked juvenile retinoschisis" EXACT [DOID:0060763, Orphanet:792] synonym: "X-linked juvenile retinoschisis 1" RELATED [DOID:0060763] synonym: "X-linked juvenile retinoschisis type 1" EXACT [DOID:0060763, MONDORULE:1] synonym: "X-linked retinoschisis" EXACT [DOID:0060763] synonym: "XJR" RELATED ABBREVIATION [GARD:0004690] synonym: "XLRS" EXACT ABBREVIATION [DOID:0060763, Orphanet:792] synonym: "XLRS1" RELATED ABBREVIATION [OMIM:312700] xref: DOID:0060763 {source="MONDO:equivalentTo"} xref: NCIT:C75483 {source="MONDO:equivalentTo"} xref: OMIM:312700 {source="Orphanet:792/e", source="DOID:0060763", source="MONDO:equivalentTo", source="Orphanet:792"} xref: Orphanet:792 {source="DOID:0060763", source="MONDO:equivalentTo", source="OMIM:312700"} xref: SCTID:86923008 {source="MONDO:equivalentTo"} is_a: MONDO:0000425 ! X-linked disease is_a: MONDO:0004579 {source="DC-OMIM:312700", source="DOID:0060763", source="MONDO:Redundant"} ! retinoschisis is_a: MONDO:0015217 {source="Orphanet:792"} ! non-syndromic developmental defect of the eye is_a: MONDO:0019118 ! inherited retinal dystrophy is_a: MONDO:0020248 {source="Orphanet:792"} ! vitreoretinal degeneration property_value: exactMatch DOID:0060763 property_value: exactMatch http://identifiers.org/snomedct/86923008 property_value: exactMatch https://omim.org/entry/312700 property_value: exactMatch NCIT:C75483 property_value: exactMatch Orphanet:792 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010726 name: Rett syndrome def: "A severe neurodevelopmental disorder affecting the central nervous system." [Orphanet:778] subset: ordo_disease {source="Orphanet:778"} synonym: "autism, dementia, ataxia, and loss of purposeful hand use" RELATED [OMIM:312750] synonym: "cerebroatrophic hyperammonemia" EXACT [DOID:1206] synonym: "Rett syndrome" EXACT [MONDO:Lexical, OMIM:312750] synonym: "Rett syndrome, atypical" RELATED [OMIM:312750] synonym: "rett syndrome, atypical, X-linked dominant" EXACT [OMIM:312750, OMIM:genemap2] synonym: "Rett syndrome, preserved speech variant" RELATED [OMIM:312750] synonym: "rett syndrome, preserved speech variant, X-linked dominant" EXACT [OMIM:312750, OMIM:genemap2] synonym: "rett syndrome, X-linked dominant" EXACT [OMIM:312750, OMIM:genemap2] synonym: "Rett syndrome, Zappella variant" RELATED [OMIM:312750] synonym: "Rett's disorder" EXACT [DOID:1206] synonym: "Rts" RELATED [OMIM:312750] synonym: "RTT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:312750] xref: DOID:1206 {source="MONDO:equivalentTo"} xref: ICD9:330.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10039000 {source="Orphanet:778", source="Orphanet:778/e"} xref: MESH:D015518 {source="Orphanet:778", source="MONDO:equivalentTo", source="DOID:1206", source="Orphanet:778/e"} xref: NCIT:C75488 {source="MONDO:equivalentTo", source="DOID:1206"} xref: OMIM:312750 {source="Orphanet:778", source="MONDO:equivalentTo", source="DOID:1206", source="Orphanet:778/e"} xref: Orphanet:778 {source="OMIM:312750", source="MONDO:equivalentTo"} xref: SCTID:68618008 {source="MONDO:equivalentTo", source="DOID:1206"} xref: UMLS:C0035372 {source="OMIM:312750", source="Orphanet:778", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:1206", source="Orphanet:778/e", source="NCIT:C75488"} is_a: MONDO:0000594 {source="Orphanet:778"} ! pervasive developmental disorder is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75488"} ! syndromic disease relationship: disease_has_feature EFO:0003758 {source="NCIT:C88412"} ! autism relationship: has_characteristic MONDO:0021136 {source="MONDO:0015680"} ! rare property_value: closeMatch http://identifiers.org/meddra/10039000 property_value: exactMatch DOID:1206 property_value: exactMatch http://identifiers.org/mesh/D015518 property_value: exactMatch http://identifiers.org/snomedct/68618008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035372 property_value: exactMatch https://omim.org/entry/312750 property_value: exactMatch NCIT:C75488 property_value: exactMatch Orphanet:778 property_value: excluded_subClassOf MONDO:0015653 {source="Orphanet:778"} property_value: excluded_subClassOf MONDO:0017656 {source="Orphanet:778"} property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:778"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010728 name: SCARF syndrome def: "A syndrome characterized by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive." [Orphanet:3134] subset: ordo_malformation_syndrome {source="Orphanet:3134"} synonym: "SCARF syndrome" EXACT [OMIM:312830] synonym: "skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, and Facial abnormalities" RELATED [OMIM:312830] xref: MESH:C536625 {source="Orphanet:3134", source="MONDO:equivalentTo", source="Orphanet:3134/e"} xref: OMIM:312830 {source="Orphanet:3134", source="MONDO:equivalentTo", source="Orphanet:3134/e"} xref: Orphanet:3134 {source="MONDO:equivalentTo", source="OMIM:312830"} xref: SCTID:734173003 {source="MONDO:equivalentTo"} xref: UMLS:C1839321 {source="Orphanet:3134", source="MONDO:equivalentTo", source="Orphanet:3134/e", source="MONDO:ncbi_mim2gene_medline", source="OMIM:312830"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: exactMatch http://identifiers.org/mesh/C536625 property_value: exactMatch http://identifiers.org/snomedct/734173003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839321 property_value: exactMatch https://omim.org/entry/312830 property_value: exactMatch Orphanet:3134 property_value: excluded_subClassOf MONDO:0015159 {source="Orphanet:3134"} property_value: excluded_subClassOf MONDO:0015338 {source="Orphanet:3134"} property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:3134"} property_value: excluded_subClassOf MONDO:0100237 {source="MESH:C536625", source="Orphanet:3134"} [Term] id: MONDO:0010729 name: X-linked intellectual disability, Schimke type def: "X-linked mental retardation, Schimke type, is characterized by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked." [Orphanet:85285] subset: ordo_malformation_syndrome {source="Orphanet:85285"} synonym: "childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and intellectual disability, ophthalmoplegia, and deafness" RELATED [GARD:0009288] synonym: "childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and mental retardation, ophthalmoplegia, and deafness" RELATED DEPRECATED [GARD:0009288] synonym: "choreoathetosis with intellectual disability X- linked" RELATED [GARD:0009288] synonym: "choreoathetosis with intellectual disability, X-linked" RELATED [OMIM:312840] synonym: "choreoathetosis with mental retardation X- linked" RELATED DEPRECATED [GARD:0009288] synonym: "choreoathetosis with mental retardation, X-linked" RELATED DEPRECATED [OMIM:312840] synonym: "progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness" RELATED [GARD:0009288] synonym: "Schimke X-linked intellectual disability syndrome" RELATED [OMIM:312840] synonym: "Schimke X-linked mental retardation syndrome" RELATED DEPRECATED [OMIM:312840] xref: MESH:C536630 {source="Orphanet:85285/e", source="MONDO:equivalentTo", source="Orphanet:85285"} xref: OMIM:312840 {source="Orphanet:85285/e", source="MONDO:equivalentTo", source="Orphanet:85285"} xref: Orphanet:85285 {source="MONDO:equivalentTo", source="OMIM:312840"} xref: SCTID:719010001 {source="MONDO:equivalentTo"} xref: UMLS:C1839320 {source="Orphanet:85285/e", source="MONDO:equivalentTo", source="OMIM:312840", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:85285"} is_a: MONDO:0020119 {source="Orphanet:85285", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch http://identifiers.org/mesh/C536630 property_value: exactMatch http://identifiers.org/snomedct/719010001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839320 property_value: exactMatch https://omim.org/entry/312840 property_value: exactMatch Orphanet:85285 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010731 name: Simpson-Golabi-Behmel syndrome def: "Simpson-Golabi-Behmel syndrome is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk." [Orphanet:373] subset: gard_rare {source="GARD:0007649"} subset: ordo_malformation_syndrome {source="Orphanet:373"} synonym: "DGSX" EXACT ABBREVIATION [Orphanet:373] synonym: "dysplasia gigantism syndrome, X-linked" RELATED [OMIM:312870] synonym: "Golabi-Rosen syndrome" EXACT [DOID:0060248, Orphanet:373] synonym: "Sara Angers syndrome" EXACT [DOID:0060248] synonym: "SDYS" EXACT ABBREVIATION [Orphanet:373] synonym: "SGB syndrome" EXACT [DOID:0060248] synonym: "SGBS" EXACT ABBREVIATION [Orphanet:373] synonym: "Sgbs" RELATED [OMIM:312870] synonym: "Simpson-Golabi-Behmel syndrome" EXACT [] synonym: "X-linked dysplasia gigantism syndrome" EXACT [DOID:0060248, Orphanet:373] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537340 {source="Orphanet:373/e", source="DOID:0060248", source="MONDO:equivalentTo", source="Orphanet:373"} xref: NCIT:C131002 {source="MONDO:equivalentTo"} xref: Orphanet:373 {source="OMIM:312870", source="DOID:0060248", source="MONDO:equivalentTo"} xref: SCTID:439143004 {source="DOID:0060248", source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C131002"} ! syndromic disease is_a: MONDO:0019716 {source="Orphanet:373"} ! overgrowth syndrome property_value: exactMatch http://identifiers.org/mesh/C537340 property_value: exactMatch http://identifiers.org/snomedct/439143004 property_value: exactMatch NCIT:C131002 property_value: exactMatch Orphanet:373 property_value: excluded_subClassOf MONDO:0015159 {source="Orphanet:373"} property_value: excluded_subClassOf MONDO:0015216 {source="Orphanet:373"} property_value: excluded_subClassOf MONDO:0015496 {source="Orphanet:373"} property_value: excluded_subClassOf MONDO:0015880 {source="Orphanet:373"} property_value: excluded_subClassOf MONDO:0019721 {source="Orphanet:373"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7649/simpson-golabi-behmel-syndrome xsd:anyURI {source="GARD:0007649"} [Term] id: MONDO:0010732 name: spastic paraparesis-deafness syndrome def: "Spastic paraparesis-deafness syndrome is a chronic neurodegenerative disorder characterized by spastic paraparesis (beginning at about 10 years of age) and hearing deficits." [Orphanet:2815] subset: ordo_malformation_syndrome {source="Orphanet:2815"} synonym: "familial spastic paraparesis and deafness" RELATED [GARD:0005555] synonym: "spastic paraparesis - deafness" RELATED [GARD:0005555] synonym: "spastic paraparesis and deafness" RELATED [OMIM:312910] synonym: "Wells-Jankovic syndrome" EXACT [Orphanet:2815] xref: DOID:0081100 {source="MONDO:equivalentTo"} xref: ICD10CM:G11.4 {source="MONDO:relatedTo", source="Orphanet:2815/attributed", source="Orphanet:2815/ntbt", source="Orphanet:2815"} xref: MESH:C536692 {source="MONDO:equivalentTo"} xref: OMIM:312910 {source="Orphanet:2815/e", source="MONDO:equivalentTo", source="Orphanet:2815"} xref: Orphanet:2815 {source="MONDO:equivalentTo", source="OMIM:312910"} xref: SCTID:715504003 {source="MONDO:equivalentTo"} xref: UMLS:C2931291 {source="Orphanet:2815/e", source="MONDO:equivalentTo", source="OMIM:312910", source="Orphanet:2815"} is_a: EFO:0000508 {source="MESH:C536692/inferred", source="Orphanet:2815/inferred"} ! genetic disorder property_value: exactMatch DOID:0081100 property_value: exactMatch http://identifiers.org/mesh/C536692 property_value: exactMatch http://identifiers.org/snomedct/715504003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931291 property_value: exactMatch https://omim.org/entry/312910 property_value: exactMatch Orphanet:2815 [Term] id: MONDO:0010733 name: hereditary spastic paraplegia 2 def: "Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG." [Orphanet:99015] subset: ordo_disease {source="Orphanet:99015"} synonym: "hereditary spastic paraplegia caused by mutation in PLP1" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 2" EXACT [DOID:0110773, MONDORULE:1] synonym: "PLP1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "spastic gait type 2" EXACT [Orphanet:99015] synonym: "spastic paraparesis type 2" EXACT [Orphanet:99015] synonym: "spastic paraplegia 2" RELATED [GARD:0004923] synonym: "spastic paraplegia 2, X-linked" RELATED [MONDO:Lexical, OMIM:312920] synonym: "spastic paraplegia 2, X-linked, X-linked recessive" EXACT [OMIM:312920, OMIM:genemap2] synonym: "spastic paraplegia type 2" EXACT [DOID:0110773] synonym: "SPG2" EXACT ABBREVIATION [DOID:0110773, MONDO:Lexical, OMIM:312920, Orphanet:99015] synonym: "Sppx2" RELATED [OMIM:312920] synonym: "X-linked spastic paraplegia 2" EXACT [DOID:0110773] synonym: "X-linked spastic paraplegia type 2" EXACT [Orphanet:99015] xref: DOID:0110773 {source="MONDO:equivalentTo"} xref: OMIM:312920 {source="Orphanet:99015", source="MONDO:equivalentTo", source="Orphanet:99015/e", source="DOID:0110773"} xref: Orphanet:99015 {source="MONDO:equivalentTo", source="OMIM:312920", source="DOID:0110773"} xref: SCTID:723622007 {source="MONDO:equivalentTo"} xref: UMLS:C1839264 {source="Orphanet:99015", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:99015/e", source="OMIM:312920"} is_a: MONDO:0017916 {source="Orphanet:99015"} ! pure or complex X-linked spastic paraplegia is_a: MONDO:0019046 {source="Orphanet:99015"} ! leukodystrophy property_value: exactMatch DOID:0110773 property_value: exactMatch http://identifiers.org/snomedct/723622007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839264 property_value: exactMatch https://omim.org/entry/312920 property_value: exactMatch Orphanet:99015 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010735 name: Kennedy disease def: "Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting." [Orphanet:481] subset: ordo_disease {source="Orphanet:481"} synonym: "bulbospinal muscular atrophy, X-linked" RELATED [OMIM:313200] synonym: "bulbospinal neuronopathy, X-linked recessive" RELATED [OMIM:313200] synonym: "Kennedy disease" EXACT [DOID:0060161, OMIM:313200] synonym: "Kennedy spinal and bulbar muscular atrophy" RELATED [OMIM:313200] synonym: "Kennedy's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] synonym: "SBMA" EXACT ABBREVIATION [DOID:0060161, Orphanet:481] synonym: "SMAX1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:313200, Orphanet:481] synonym: "spinal and bulbar muscular atrophy" RELATED [OMIM:313200] synonym: "spinal and bulbar muscular atrophy of Kennedy, X-linked recessive" EXACT [OMIM:313200, OMIM:genemap2] synonym: "spinal and bulbar muscular atrophy, X-linked 1" RELATED [MONDO:Lexical, OMIM:313200] synonym: "spinal and bulbar muscular atrophy, X-linked type 1" EXACT [MONDORULE:1, OMIM:313200] synonym: "spinal bulbar muscular atrophy" EXACT [DOID:0060161] synonym: "spinobulbar muscular atrophy" EXACT [DOID:0060161] synonym: "X-linked BSMA" EXACT [Orphanet:481] synonym: "X-linked bulbo-spinal atrophy" EXACT [DOID:0060161] synonym: "X-linked bulbospinal amyotrophy" EXACT [Orphanet:481] synonym: "X-linked bulbospinal muscular atrophy" EXACT [Orphanet:481] synonym: "X-linked spinal and bulbar muscular atrophy" EXACT [DOID:0060161, Orphanet:481] xref: DOID:0060161 {source="MONDO:equivalentTo"} xref: MedDRA:10068600 {source="Orphanet:481", source="Orphanet:481/e"} xref: MESH:D055534 {source="MONDO:equivalentTo", source="DOID:0060161"} xref: NCIT:C85233 {source="MONDO:equivalentTo", source="DOID:0060161"} xref: OMIM:313200 {source="MONDO:equivalentTo", source="Orphanet:481", source="DOID:0060161", source="Orphanet:481/e"} xref: Orphanet:481 {source="OMIM:313200", source="MONDO:equivalentTo"} xref: UMLS:C1839259 {source="OMIM:313200", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:481", source="NCIT:C85233", source="DOID:0060161", source="Orphanet:481/e"} is_a: MONDO:0024237 {source="Orphanet:481", source="https://orcid.org/0000-0001-5208-3432"} ! inherited neurodegenerative disorder property_value: closeMatch http://identifiers.org/meddra/10068600 property_value: exactMatch DOID:0060161 property_value: exactMatch http://identifiers.org/mesh/D055534 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839259 property_value: exactMatch https://omim.org/entry/313200 property_value: exactMatch NCIT:C85233 property_value: exactMatch Orphanet:481 property_value: excluded_subClassOf MONDO:0001516 {source="DOID:0060161", source="MONDO:indirect"} property_value: excluded_subClassOf MONDO:0005372 {source="MONDO:0018388-obsoleted"} property_value: excluded_subClassOf MONDO:0016115 {source="Orphanet:481"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010738 name: spondylometaphyseal dysplasia, Golden type def: "Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base." [Orphanet:168544] subset: ordo_disease {source="Orphanet:168544"} synonym: "spondylometaphyseal dysplasia Richmond type" RELATED [GARD:0008343] synonym: "spondylometaphyseal dysplasia X-linked" RELATED [GARD:0008343] synonym: "spondylometaphyseal dysplasia, Richmond type" RELATED [OMIM:313420] synonym: "spondylometaphyseal dysplasia, X-linked" RELATED [OMIM:313420] synonym: "X-linked spondylometaphyseal dysplasia" EXACT [Orphanet:168544] xref: MESH:C563124 {source="MONDO:equivalentTo"} xref: OMIM:313420 {source="Orphanet:168544", source="MONDO:equivalentTo", source="Orphanet:168544/e"} xref: Orphanet:168544 {source="OMIM:313420", source="MONDO:equivalentTo"} xref: UMLS:C0796172 {source="OMIM:313420", source="Orphanet:168544", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0016763 {source="DC-OMIM:313420", source="Orphanet:168544"} ! spondylometaphyseal dysplasia property_value: exactMatch http://identifiers.org/mesh/C563124 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796172 property_value: exactMatch https://omim.org/entry/313420 property_value: exactMatch Orphanet:168544 [Term] id: MONDO:0010742 name: pentalogy of Cantrell def: "Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC." [Orphanet:1335] subset: gard_rare {source="GARD:0007359"} subset: ordo_malformation_syndrome {source="Orphanet:1335"} synonym: "Cantrell deformity" EXACT [Orphanet:1335] synonym: "Cantrell Haller Ravitsch syndrome" RELATED [GARD:0007359] synonym: "Cantrell pentalogy" RELATED [GARD:0007359] synonym: "Cantrell syndrome" EXACT [Orphanet:1335] synonym: "Midline defects, X-linked" RELATED [OMIM:313850] synonym: "pentalogy of Cantrell" EXACT [OMIM:313850] synonym: "Tas" RELATED [OMIM:313850] synonym: "THAS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:313850] synonym: "thoraco-abdominal syndrome" EXACT [Orphanet:1335] synonym: "thoracoabdominal syndrome" RELATED [MONDO:Lexical, OMIM:313850] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D058502 {source="MONDO:equivalentTo", source="Orphanet:1335", source="Orphanet:1335/e"} xref: NCIT:C99011 {source="MONDO:equivalentTo"} xref: OMIM:313850 {source="MONDO:equivalentTo", source="Orphanet:1335", source="Orphanet:1335/e"} xref: Orphanet:1335 {source="OMIM:313850", source="MONDO:equivalentTo"} xref: SCTID:281587000 {source="MONDO:equivalentTo"} xref: UMLS:C0559483 {source="OMIM:313850", source="MONDO:equivalentTo", source="NCIT:C99011", source="Orphanet:1335", source="Orphanet:1335/e"} is_a: MONDO:0015161 {source="Orphanet:1335"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/D058502 property_value: exactMatch http://identifiers.org/snomedct/281587000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0559483 property_value: exactMatch https://omim.org/entry/313850 property_value: exactMatch NCIT:C99011 property_value: exactMatch Orphanet:1335 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7359/pentalogy-of-cantrell xsd:anyURI {source="GARD:0007359"} [Term] id: MONDO:0010743 name: thrombocytopenia 1 subset: ordo_etiological_subtype {source="Orphanet:852"} synonym: "THC" RELATED ABBREVIATION [OMIM:313900] synonym: "THC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:313900] synonym: "thrombocytopenia 1" EXACT [MONDO:Lexical, OMIM:313900] synonym: "thrombocytopenia type 1" EXACT [MONDORULE:1, OMIM:313900] synonym: "thrombocytopenia, X-linked" RELATED [OMIM:313900] synonym: "thrombocytopenia, X-linked, 1" RELATED [OMIM:313900] synonym: "thrombocytopenia, X-linked, intermittent" RELATED [OMIM:313900] synonym: "thrombocytopenia, X-linked, intermittent, X-linked recessive" EXACT [OMIM:313900, OMIM:genemap2] synonym: "thrombocytopenia, X-linked, X-linked recessive" EXACT [OMIM:313900, OMIM:genemap2] synonym: "X-linked thrombocytopenia" RELATED [GARD:0005176] synonym: "X-linked thrombocytopenia with normal platelets" EXACT [Orphanet:852] synonym: "XLT" RELATED ABBREVIATION [GARD:0005176] xref: MESH:C564052 {source="MONDO:equivalentTo"} xref: NCIT:C176617 {source="MONDO:equivalentTo"} xref: OMIM:313900 {source="Orphanet:852", source="MONDO:equivalentTo", source="Orphanet:852/e"} xref: Orphanet:852 {source="MONDO:equivalentTo", source="OMIM:313900"} xref: UMLS:C1839163 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:313900"} is_a: MONDO:0017057 {source="Orphanet:852"} ! hereditary thrombocytopenia with normal platelets property_value: exactMatch http://identifiers.org/mesh/C564052 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839163 property_value: exactMatch https://omim.org/entry/313900 property_value: exactMatch NCIT:C176617 property_value: exactMatch Orphanet:852 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010745 name: beta-thalassemia-X-linked thrombocytopenia syndrome def: "Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia." [Orphanet:231393] subset: ordo_disease {source="Orphanet:231393"} synonym: "thrombocytopenia with BETA-thalassemia, X-linked" RELATED [MONDO:Lexical, OMIM:314050] synonym: "thrombocytopenia with beta-thalassemia, X-linked, X-linked recessive" EXACT [OMIM:314050, OMIM:genemap2] synonym: "thrombocytopenia, Platelet dysfunction, hemolysis, and Imbalanced globin synthesis" RELATED [OMIM:314050] synonym: "X-linked thrombocytopenia with Beta-thalassemia" EXACT [NCIT:C134941] synonym: "XLTT" EXACT ABBREVIATION [MONDO:Lexical, OMIM:314050, Orphanet:231393] xref: DOID:0111767 {source="MONDO:equivalentTo"} xref: MESH:C564050 {source="MONDO:equivalentTo"} xref: NCIT:C134941 {source="MONDO:equivalentTo"} xref: OMIM:314050 {source="Orphanet:231393/e", source="MONDO:equivalentTo", source="Orphanet:231393"} xref: Orphanet:231393 {source="MONDO:equivalentTo", source="OMIM:314050"} xref: SCTID:718196002 {source="MONDO:equivalentTo"} xref: UMLS:C1839161 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C134941", source="OMIM:314050"} is_a: MONDO:0017145 ! beta-thalassemia and related diseases is_a: MONDO:0100089 {source="https://github.com/monarch-initiative/mondo/issues/1018"} ! GATA1-Related X-Linked Cytopenia property_value: exactMatch DOID:0111767 property_value: exactMatch http://identifiers.org/mesh/C564050 property_value: exactMatch http://identifiers.org/snomedct/718196002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839161 property_value: exactMatch https://omim.org/entry/314050 property_value: exactMatch NCIT:C134941 property_value: exactMatch Orphanet:231393 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010747 name: X-linked dystonia-parkinsonism def: "X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course." [Orphanet:53351] subset: ordo_disease {source="Orphanet:53351"} synonym: "dystonia 3, torsion, X-linked" RELATED [MONDO:Lexical, OMIM:314250] synonym: "dystonia-Parkinsonism, X-linked" RELATED [OMIM:314250] synonym: "dystonia-Parkinsonism, X-linked, X-linked recessive" EXACT [OMIM:314250, OMIM:genemap2] synonym: "DYT-TAF1" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/] synonym: "DYT3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:314250, Orphanet:53351] synonym: "Lubag" EXACT [Orphanet:53351] synonym: "Lubag syndrome" EXACT [Orphanet:53351] synonym: "torsion dystonia-Parkinsonism, Filipino type" RELATED [OMIM:314250] synonym: "X-linked dystonia Parkinsonism" EXACT [NCIT:C126330] synonym: "X-linked dystonia-Parkinsonism syndrome" RELATED [GARD:0010533] synonym: "X-linked dystonia-parkinsonism/Lubag" RELATED [GARD:0010533] synonym: "X-linked torsion dystonia-Parkinsonism syndrome" RELATED [GARD:0010533] synonym: "XDP" EXACT ABBREVIATION [Orphanet:53351] xref: DOID:0090057 {source="MONDO:equivalentTo"} xref: MESH:C564048 {source="MONDO:equivalentTo"} xref: NCIT:C126330 {source="MONDO:equivalentTo"} xref: OMIM:314250 {source="Orphanet:53351/e", source="MONDO:equivalentTo", source="DOID:0090057", source="Orphanet:53351"} xref: Orphanet:53351 {source="MONDO:equivalentTo", source="DOID:0090057", source="OMIM:314250"} xref: SCTID:698279003 {source="MONDO:equivalentTo"} xref: UMLS:C1839130 {source="NCIT:C126330", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:53351", source="OMIM:314250"} is_a: MONDO:0000477 {source="DOID:0090057"} ! focal dystonia is_a: MONDO:0018329 {source="Orphanet:53351"} ! persistent combined dystonia is_a: MONDO:0021095 {source="MONDO:0017661-obsoleted"} ! parkinsonian disorder property_value: exactMatch DOID:0090057 property_value: exactMatch http://identifiers.org/mesh/C564048 property_value: exactMatch http://identifiers.org/snomedct/698279003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839130 property_value: exactMatch https://omim.org/entry/314250 property_value: exactMatch NCIT:C126330 property_value: exactMatch Orphanet:53351 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010748 name: torticollis-keloids-cryptorchidism-renal dysplasia syndrome def: "Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies." [Orphanet:3341] subset: ordo_malformation_syndrome {source="Orphanet:3341"} synonym: "Goeminne syndrome" RELATED [OMIM:314300] synonym: "Goeminne TKCR syndrome" EXACT [OMIM:314300, OMIM:genemap2] synonym: "Tkc" RELATED [OMIM:314300] synonym: "TKCR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:314300] synonym: "Tkcr syndrome" RELATED [OMIM:314300] synonym: "torticollis keloids cryptorchidism renal dysplasia" RELATED [GARD:0005230] synonym: "torticollis, keloids, cryptorchidism, and renal dysplasia" RELATED [MONDO:Lexical, OMIM:314300] xref: MESH:C536970 {source="Orphanet:3341/e", source="MONDO:equivalentTo", source="Orphanet:3341"} xref: OMIM:314300 {source="Orphanet:3341/e", source="MONDO:equivalentTo", source="Orphanet:3341"} xref: Orphanet:3341 {source="OMIM:314300", source="MONDO:equivalentTo"} xref: UMLS:C1839129 {source="Orphanet:3341/e", source="OMIM:314300", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3341"} is_a: MONDO:0015620 {source="Orphanet:3341"} ! syndromic urogenital tract malformation property_value: exactMatch http://identifiers.org/mesh/C536970 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839129 property_value: exactMatch https://omim.org/entry/314300 property_value: exactMatch Orphanet:3341 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010749 name: trigonocephaly-short stature-developmental delay syndrome def: "A syndrome characterized by short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance can not be ruled out." [Orphanet:3369] subset: ordo_malformation_syndrome {source="Orphanet:3369"} synonym: "Say Meyer syndrome" RELATED [GARD:0000243] synonym: "Say-Meyer syndrome" EXACT [Orphanet:3369] synonym: "trigonocephaly with short stature and developmental delay" RELATED [OMIM:314320] synonym: "trigonocephaly, short stature and developmental delay" RELATED [GARD:0000243] synonym: "trigonocephaly, short stature, and retarded psychomotor development" RELATED [GARD:0000243] xref: MESH:C536620 {source="MONDO:equivalentTo"} xref: OMIM:314320 {source="Orphanet:3369", source="MONDO:equivalentTo", source="Orphanet:3369/e"} xref: Orphanet:3369 {source="OMIM:314320", source="MONDO:equivalentTo"} xref: SCTID:733066002 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: exactMatch http://identifiers.org/mesh/C536620 property_value: exactMatch http://identifiers.org/snomedct/733066002 property_value: exactMatch https://omim.org/entry/314320 property_value: exactMatch Orphanet:3369 property_value: excluded_subClassOf MONDO:0015159 {source="Orphanet:3369"} property_value: excluded_subClassOf MONDO:0015338 {source="Orphanet:3369"} property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:3369"} [Term] id: MONDO:0010750 name: ulnar hypoplasia-split foot syndrome def: "Ulnar hypoplasia-split foot syndrome is characterized by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded." [Orphanet:1122] subset: ordo_malformation_syndrome {source="Orphanet:1122"} synonym: "complete absence of the ulna and of fingers 2 to 5, together with lobster-claw deformity of the feet" RELATED [GARD:0005400] synonym: "familial ulnar aplasia and lobster claw syndrome" RELATED [GARD:0005400] synonym: "severe ulnar aplasia and lobster claw feet" RELATED [GARD:0005400] synonym: "ulnar hypoplasia lobster claw deformity of feet" RELATED [GARD:0005400] synonym: "ulnar hypoplasia with lobster-claw deformity of feet" RELATED [OMIM:314360] synonym: "ulnar hypoplasia-lobster-claw deformity of feet syndrome" EXACT [Orphanet:1122] synonym: "Van De Berghe Dequeker syndrome" RELATED [GARD:0005400] synonym: "Van den Berghe-Dequecker syndrome" EXACT [Orphanet:1122] xref: MESH:C536936 {source="Orphanet:1122", source="MONDO:equivalentTo", source="Orphanet:1122/e"} xref: OMIM:314360 {source="Orphanet:1122", source="MONDO:equivalentTo", source="Orphanet:1122/e"} xref: Orphanet:1122 {source="MONDO:equivalentTo", source="OMIM:314360"} xref: UMLS:C1839123 {source="Orphanet:1122", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1122/e", source="OMIM:314360"} is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 {source="MONDO:0015226-obsoleted"} ! congenital limb malformation property_value: exactMatch http://identifiers.org/mesh/C536936 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839123 property_value: exactMatch https://omim.org/entry/314360 property_value: exactMatch Orphanet:1122 [Term] id: MONDO:0010752 name: VACTERL association, X-linked, with or without hydrocephalus synonym: "VACTERL association with hydrocephaly, X-linked" RELATED [GARD:0008498] synonym: "VACTERL association, X-linked, with or without hydrocephalus" EXACT [MONDO:Lexical, OMIM:314390] synonym: "VACTERL association, X-linked, X-linked recessive" EXACT [OMIM:314390, OMIM:genemap2] synonym: "VACTERL-H, X-linked" RELATED [OMIM:314390] synonym: "VACTERLX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:314390] synonym: "X-linked VACTERL-H syndrome" RELATED [GARD:0008498] xref: DOID:0111766 {source="MONDO:equivalentTo"} xref: OMIM:314390 {source="MONDO:equivalentTo"} xref: UMLS:C2931228 {source="MONDO:equivalentTo", source="OMIM:314390"} is_a: MONDO:0008642 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDO:indirect"} ! VACTERL/vater association is_a: MONDO:0010172 {source="Orphanet:3412/btnt"} ! VACTERL with hydrocephalus property_value: exactMatch DOID:0111766 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931228 property_value: exactMatch https://omim.org/entry/314390 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010753 name: cardiac valvular dysplasia, X-linked subset: gard_rare {source="GARD:0001096"} subset: ordo_morphological_anomaly {source="Orphanet:1864"} synonym: "cardiac valvular dysplasia, X-linked" EXACT [MONDO:Lexical, OMIM:314400] synonym: "congenital valvular dysplasia" EXACT [MONDO:0015989] synonym: "CVD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:314400] synonym: "myxomatous valvular dystrophy, X-linked" EXACT [OMIM:314400] synonym: "valvular heart disease, congenital" EXACT [OMIM:314400] synonym: "XMVD" EXACT ABBREVIATION [GARD:0001096] xref: DOID:0111765 {source="MONDO:equivalentTo"} xref: MESH:C535576 {source="MONDO:equivalentTo"} xref: OMIM:314400 {source="MONDO:equivalentTo", source="Orphanet:1864", source="Orphanet:1864/btnt"} xref: Orphanet:1864 {source="MONDO:equivalentObsolete", source="OMIM:314400"} xref: Orphanet:555877 {source="MONDO:equivalentTo"} xref: SCTID:718128009 {source="MONDO:equivalentTo"} is_a: MONDO:0017131 {source="Orphanet:1864"} ! hereditary cardiac anomaly is_a: MONDO:0020289 {source="Orphanet:1864"} ! congenital tricuspid malformation property_value: exactMatch DOID:0111765 property_value: exactMatch http://identifiers.org/mesh/C535576 property_value: exactMatch http://identifiers.org/snomedct/718128009 property_value: exactMatch https://omim.org/entry/314400 property_value: exactMatch Orphanet:555877 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1096/cardiac-valvular-dysplasia-x-linked xsd:anyURI {source="GARD:0001096"} [Term] id: MONDO:0010754 name: van den Bosch syndrome def: "A syndrome characterized by intellectual deficit, choroideremia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion." [Orphanet:3417] subset: gard_rare {source="GARD:0005453"} subset: ordo_malformation_syndrome {source="Orphanet:3417"} synonym: "mental deficiency, choroideremia, acrokeratosis verruciformis,anhidrosis, skeletal deformity" RELATED [GARD:0005453] synonym: "van den Bosch syndrome" EXACT [OMIM:314500] xref: MESH:C563129 {source="MONDO:equivalentTo"} xref: OMIM:314500 {source="MONDO:equivalentTo", source="Orphanet:3417", source="Orphanet:3417/e"} xref: Orphanet:3417 {source="MONDO:equivalentTo", source="OMIM:314500"} xref: SCTID:733110004 {source="MONDO:equivalentTo"} xref: UMLS:C0796192 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:314500", source="Orphanet:3417"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015946"} ! rare property_value: exactMatch http://identifiers.org/mesh/C563129 property_value: exactMatch http://identifiers.org/snomedct/733110004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796192 property_value: exactMatch https://omim.org/entry/314500 property_value: exactMatch Orphanet:3417 property_value: excluded_subClassOf MONDO:0019271 {source="Orphanet:3417"} property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:3417"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5453/van-den-bosch-syndrome xsd:anyURI {source="GARD:0005453"} [Term] id: MONDO:0010758 name: Wieacker-Wolff syndrome def: "A severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis) and intellectual disability." [Orphanet:3454] subset: ordo_malformation_syndrome {source="Orphanet:3454", source="Orphanet:85283"} synonym: "apraxia, oculomotor, with congenital contractures and muscle atrophy" EXACT [OMIM:314580] synonym: "contractures of feet, muscle atrophy, and oculomotor apraxia" EXACT [OMIM:314580] synonym: "foot contractures-muscle atrophy-oculomotor apraxia syndrome" EXACT [Orphanet:3454] synonym: "intellectual disability-developmental delay-contractures syndrome" EXACT [Orphanet:3454] synonym: "MCS" EXACT DEPRECATED [DOID:0060815, MONDO:Lexical, OMIM:309605] synonym: "mental retardation, X-linked, syndromic 4" EXACT DEPRECATED [DOID:0060815, OMIM:309605] synonym: "mental retardation, X-linked, with congenital contractures and Low fingertip arches" EXACT DEPRECATED [OMIM:309605] synonym: "mental retardation, X-linked, with congenital contractures and low fingertip arches" EXACT DEPRECATED [DOID:0060815] synonym: "Miles-Carpenter syndrome" EXACT [MONDO:0010666] synonym: "Miles-CARPENTER X-linked mental retardation syndrome" EXACT DEPRECATED [MONDO:Lexical, OMIM:309605] synonym: "MRXS4" EXACT ABBREVIATION [DOID:0060815] synonym: "Wieacker syndrome" EXACT [OMIM:314580] synonym: "Wieacker Wolff syndrome" EXACT [GARD:0007890] synonym: "Wieacker-Wolff syndrome" EXACT [MONDO:Lexical, OMIM:314580, Orphanet:3454] synonym: "Wieacker-Wolff syndrome, X-linked" EXACT [MONDO:cjm] synonym: "Wieacker-Wolff syndrome, X-linked recessive" EXACT [OMIM:314580, OMIM:genemap2] synonym: "WRWF" EXACT ABBREVIATION [MONDO:Lexical, OMIM:314580] synonym: "WRWFXLR" EXACT ABBREVIATION [MONDO:cjm] synonym: "X-linked intellectual disability, Miles-Carpenter type" EXACT [DOID:0060815] xref: DOID:0060815 {source="MONDO:equivalentTo"} xref: MESH:C536703 {source="Orphanet:3454", source="MONDO:equivalentTo", source="Orphanet:3454/e"} xref: MESH:C537472 {source="Orphanet:85283/e", source="MONDO:equivalentObsolete", source="DOID:0060815", source="Orphanet:85283"} xref: OMIM:314580 {source="Orphanet:3454", source="MONDO:equivalentTo", source="Orphanet:3454/e", source="Orphanet:85283"} xref: Orphanet:3454 {source="MONDO:equivalentTo", source="OMIM:314580"} xref: Orphanet:85283 {source="MONDO:equivalentTo", source="OMIM:309605", source="DOID:0060815"} xref: SCTID:719012009 {source="MONDO:equivalentTo"} xref: SCTID:722456001 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0025445 ! Wieacker-Wolff syndrome (spectrum) is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch DOID:0060815 property_value: exactMatch http://identifiers.org/mesh/C536703 property_value: exactMatch http://identifiers.org/snomedct/719012009 property_value: exactMatch http://identifiers.org/snomedct/722456001 property_value: exactMatch https://omim.org/entry/314580 property_value: exactMatch Orphanet:3454 property_value: exactMatch Orphanet:85283 property_value: excluded_subClassOf MONDO:0015159 {source="Orphanet:85283"} property_value: excluded_subClassOf MONDO:0015168 {source="Orphanet:3454"} property_value: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:309605", source="DOID:0060815", source="Orphanet:85283"} property_value: excluded_subClassOf MONDO:0020120 {source="Orphanet:3454", source="Orphanet:3454/inferred"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010759 name: Wildervanck syndrome def: "Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly), bilateral abducens palsy with retracted eyes (Duane syndrome) and congenital perceptive deafness." [Orphanet:3456] subset: gard_rare {source="GARD:0005569"} subset: ordo_malformation_syndrome {source="Orphanet:3456"} synonym: "cervico-oculo-acoustic dysplasia" RELATED [GARD:0005569] synonym: "cervico-oculo-acoustic syndrome" RELATED [GARD:0005569] synonym: "Cervicooculoacoustic syndrome" EXACT [OMIM:314600, Orphanet:3456] synonym: "COA syndrome" RELATED [GARD:0005569] synonym: "Wildervanck syndrome" EXACT [OMIM:314600] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10069402 {source="Orphanet:3456", source="Orphanet:3456/e"} xref: OMIM:314600 {source="Orphanet:3456", source="MONDO:equivalentTo", source="Orphanet:3456/e"} xref: Orphanet:3456 {source="MONDO:equivalentTo", source="OMIM:314600"} xref: SCTID:79665007 {source="MONDO:equivalentTo"} xref: UMLS:C0265239 {source="Orphanet:3456", source="MONDO:equivalentTo", source="OMIM:314600", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3456/e"} is_a: MONDO:0015334 {source="Orphanet:3456"} ! branchial arch or oral-acral syndrome is_a: MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin relationship: disease_has_feature MONDO:0001029 ! Klippel-Feil syndrome property_value: closeMatch http://identifiers.org/meddra/10069402 property_value: exactMatch http://identifiers.org/snomedct/79665007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265239 property_value: exactMatch https://omim.org/entry/314600 property_value: exactMatch Orphanet:3456 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5569/wildervanck-syndrome xsd:anyURI {source="GARD:0005569"} [Term] id: MONDO:0010765 name: 46,XY complete gonadal dysgenesis def: "46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." [Orphanet:242] subset: ordo_malformation_syndrome {source="Orphanet:242"} subset: prototype_pattern synonym: "46 XY gonadal dysgenesis" EXACT [MONDO:0001968] synonym: "46, XY CGD" EXACT [GARD:0005068] synonym: "46, XY complete gonadal dysgenesis" EXACT [GARD:0005068] synonym: "46, XY pure gonadal dysgenesis" EXACT [GARD:0005068] synonym: "46,XY CGD" EXACT [Orphanet:242] synonym: "46,XY gonadal dysgenesis" EXACT [NCIT:C120198] synonym: "46,XY pure gonadal dysgenesis" EXACT [Orphanet:242] synonym: "46,XY SEX reversal" EXACT [DOID:14448] synonym: "gonadal dysgenesis, XY female type" RELATED [GARD:0005068] synonym: "pure gonadal dysgenesis 46,XY" EXACT [DOID:14448] synonym: "sex-reversing locus on X" RELATED [OMIM:400044] synonym: "sex-reversing locus on X, formerly" RELATED [OMIM:400044] synonym: "Swyer syndrome" EXACT [DOID:14448, Orphanet:242] synonym: "testis-determining Factor, X-chromosomal" RELATED [OMIM:400044] xref: DOID:14448 {source="MONDO:equivalentTo"} xref: MESH:D006061 {source="DOID:14448", source="MONDO:equivalentTo"} xref: NCIT:C120198 {source="DOID:14448", source="MONDO:equivalentTo"} xref: OMIMPS:400044 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:242 {source="OMIM:400044", source="MONDO:equivalentTo"} xref: SCTID:95218005 {source="MONDO:equivalentTo"} xref: UMLS:C0018054 {source="DOID:14448", source="MONDO:equivalentTo", source="NCIT:C120198", source="Orphanet:242"} xref: UMLS:C2936694 {source="Orphanet:242/e", source="MONDO:equivalentTo", source="Orphanet:242"} is_a: MONDO:0001967 {source="DOID:14448", source="MESH:D006061", source="NCIT:C120198", source="OMIM:400044/inferred"} ! gonadal dysgenesis is_a: MONDO:0017966 {source="Orphanet:242"} ! 46,XY disorder of gonadal development is_a: MONDO:0024573 ! familial hypertrophic cardiomyopathy is_a: MONDO:0957025 ! hereditary 46,XY disorder of sex development property_value: exactMatch DOID:14448 property_value: exactMatch http://identifiers.org/mesh/D006061 property_value: exactMatch http://identifiers.org/snomedct/95218005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018054 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2936694 property_value: exactMatch https://omim.org/phenotypicSeries/PS400044 property_value: exactMatch NCIT:C120198 property_value: exactMatch Orphanet:242 property_value: excluded_subClassOf MONDO:0019520 {source="Orphanet:242"} [Term] id: MONDO:0010766 name: obsolete 46,XX sex reversal 1 comment: Split this term - created a new grouping class that is equivalent to the Orphanet class (Orphanet:393) and created a new class for this term, equivalent to the OMIM term (OMIM:400045). is_obsolete: true replaced_by: MONDO:0100250 [Term] id: MONDO:0010771 name: histiocytoid cardiomyopathy def: "Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterized by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium." [Orphanet:137675] subset: gard_rare subset: ordo_disease {source="Orphanet:137675"} synonym: "Arachnocytosis of the myocardium" EXACT [NCIT:C45745] synonym: "cardiomyopathy, focal Lipid" RELATED [OMIM:500000] synonym: "cardiomyopathy, infantile histiocytoid" RELATED [OMIM:500000] synonym: "cardiomyopathy, infantile xanthomatous" RELATED [OMIM:500000] synonym: "cardiomyopathy, oncocytic" RELATED [OMIM:500000] synonym: "congenital cardiomyopathy" EXACT [NCIT:C45745] synonym: "foamy myocardial transformation of infancy" EXACT [Orphanet:137675] synonym: "focal lipid cardiomyopathy" RELATED [GARD:0009511] synonym: "histiocytoid cardiomyopathy" EXACT [GARD:0009511] synonym: "infantile cardiomyopathy with histiocytoid change" EXACT [Orphanet:137675] synonym: "infantile histiocytoid cardiomyopathy" RELATED [GARD:0009511] synonym: "infantile xanthomatous cardiomyopathy" EXACT [GARD:0009511, Orphanet:137675] synonym: "isolated Cardiac lipidosis" EXACT [NCIT:C45745] synonym: "myocardial hamartoma" EXACT [NCIT:C45745] synonym: "oncocytic cardiomyopathy" EXACT [GARD:0009511, Orphanet:137675] synonym: "Purkinje cell hamartoma" EXACT [NCIT:C45745] xref: DOID:0080198 {source="MONDO:equivalentTo"} xref: MESH:C535584 {source="Orphanet:137675", source="MONDO:equivalentTo", source="Orphanet:137675/e"} xref: NCIT:C45745 {source="MONDO:equivalentTo"} xref: OMIM:500000 {source="Orphanet:137675", source="DOID:0080198", source="MONDO:equivalentTo", source="Orphanet:137675/e", source="GARD:0009511"} xref: Orphanet:137675 {source="OMIM:500000", source="MONDO:equivalentTo", source="GARD:0009511"} xref: UMLS:C1708371 {source="Orphanet:137675", source="OMIM:500000", source="MONDO:equivalentTo", source="Orphanet:137675/e", source="MONDO:ncbi_mim2gene_medline", source="GARD:0009511", source="NCIT:C45745"} xref: UMLS:CN239812 {source="MONDO:equivalentTo"} is_a: MONDO:0004069 ! inborn mitochondrial metabolism disorder is_a: MONDO:0016333 ! familial dilated cardiomyopathy property_value: exactMatch DOID:0080198 property_value: exactMatch http://identifiers.org/mesh/C535584 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1708371 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239812 property_value: exactMatch https://omim.org/entry/500000 property_value: exactMatch NCIT:C45745 property_value: exactMatch Orphanet:137675 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9511/infantile-histiocytoid-cardiomyopathy xsd:anyURI {source="GARD:0009511"} [Term] id: MONDO:0010773 name: myopathy and diabetes mellitus subset: ordo_disease {source="Orphanet:2596"} synonym: "mitochondrial myopathy with diabetes" RELATED [OMIM:500002] synonym: "mitochondrial myopathy, lipid type" RELATED [OMIM:500002] xref: MESH:C564026 {source="MONDO:equivalentTo"} xref: OMIM:500002 {source="Orphanet:2596", source="MONDO:equivalentTo", source="Orphanet:2596/e"} xref: Orphanet:2596 {source="OMIM:500002", source="MONDO:equivalentTo"} xref: UMLS:C1839028 {source="Orphanet:2596", source="OMIM:500002", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:1001511 ! monogenic diabetes is_a: MONDO:0016794 {source="Orphanet:2596"} ! maternally-inherited mitochondrial myopathy relationship: has_characteristic MONDO:0021136 {source="MONDO:0015967"} ! rare property_value: exactMatch http://identifiers.org/mesh/C564026 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839028 property_value: exactMatch https://omim.org/entry/500002 property_value: exactMatch Orphanet:2596 [Term] id: MONDO:0010779 name: mitochondrial non-syndromic sensorineural hearing loss subset: gard_rare subset: ordo_etiological_subtype {source="Orphanet:90641"} synonym: "deafness, isolated, due to mitochondrial transmission" NARROW [GARD:0001709] synonym: "deafness, nonsyndromic sensorineural, mitochondrial" RELATED [OMIM:500008] synonym: "isolated mitochondrial neurosensory deafness" NARROW [Orphanet:90641] synonym: "isolated mitochondrial sensorineural deafness" NARROW [Orphanet:90641] synonym: "mitochondrial non-syndromic neurosensory deafness" NARROW [Orphanet:90641] synonym: "mitochondrial non-syndromic sensorineural deafness" NARROW [OMIM:500008] xref: DOID:0111751 {source="MONDO:equivalentTo"} xref: OMIM:500008 {source="MONDO:equivalentTo", source="Orphanet:90641", source="Orphanet:90641/e"} xref: Orphanet:90641 {source="MONDO:equivalentTo", source="OMIM:500008"} is_a: MONDO:0016297 {source="Orphanet:90641"} ! prelingual non-syndromic genetic hearing loss is_a: MONDO:0016298 {source="Orphanet:90641"} ! postlingual non-syndromic genetic hearing loss is_a: MONDO:0016387 {source="Orphanet:90641"} ! mitochondrial oxidative phosphorylation disorder property_value: exactMatch DOID:0111751 property_value: exactMatch https://omim.org/entry/500008 property_value: exactMatch Orphanet:90641 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/551 xsd:anyURI [Term] id: MONDO:0010780 name: mitochondrial myopathy with reversible cytochrome C oxidase deficiency subset: ordo_disease {source="Orphanet:254864"} synonym: "benign COX deficiency" EXACT [Orphanet:254864] synonym: "Cox deficiency myopathy, infantile, transient" RELATED [OMIM:500009] synonym: "infantile reversible cytochrome C oxidase deficiency myopathy" EXACT [Orphanet:254864] synonym: "mitochondrial myopathy with reversible complex IV deficiency" EXACT [Orphanet:254864] synonym: "mitochondrial myopathy with reversible COX deficiency" EXACT [Orphanet:254864] synonym: "mitochondrial myopathy, infantile, transient" RELATED [MONDO:Lexical, OMIM:500009] synonym: "mitochondrial myopathy, infantile, transient, due to respiratory chain deficiency" RELATED [OMIM:500009] synonym: "MMIT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:500009] synonym: "respiratory chain deficiency, infantile, transient" RELATED [OMIM:500009] synonym: "reversible infantile cytochrome C oxidase deficiency" EXACT [Orphanet:254864] synonym: "reversible infantile respiratory chain deficiency" EXACT [Orphanet:254864] xref: OMIM:500009 {source="MONDO:equivalentTo", source="Orphanet:254864", source="Orphanet:254864/e"} xref: Orphanet:254864 {source="MONDO:equivalentTo", source="OMIM:500009"} xref: UMLS:C3151898 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:500009"} is_a: MONDO:0009637 {source="DC-OMIM:500009"} ! inborn mitochondrial myopathy is_a: MONDO:0016794 {source="Orphanet:254864"} ! maternally-inherited mitochondrial myopathy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151898 property_value: exactMatch https://omim.org/entry/500009 property_value: exactMatch Orphanet:254864 [Term] id: MONDO:0010785 name: maternally-inherited diabetes and deafness def: "Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." [Orphanet:225] subset: gard_rare {source="GARD:0004003"} subset: ordo_disease {source="Orphanet:225"} synonym: "Ballinger Wallace syndrome" RELATED [GARD:0004003] synonym: "Ballinger-Wallace syndrome" RELATED [OMIM:520000] synonym: "diabetes and deafness, maternally inherited" RELATED [GARD:0004003, MONDO:Lexical, OMIM:520000] synonym: "diabetes mellitus type II with deafness" RELATED [GARD:0004003] synonym: "diabetes mellitus, type II, with deafness" RELATED [OMIM:520000] synonym: "diabetes-deafness syndrome, maternally Transmitted" RELATED [OMIM:520000] synonym: "maternally inherited diabetes and deafness" RELATED [GARD:0004003] synonym: "MIDD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:520000, Orphanet:225] synonym: "mitochondrial diabetes" EXACT [Orphanet:225] synonym: "Niddm with deafness" RELATED [OMIM:520000] synonym: "noninsulin-dependent diabetes mellitus with deafness" RELATED [OMIM:520000] xref: ICD9:250.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536246 {source="Orphanet:225", source="MONDO:equivalentTo", source="Orphanet:225/e"} xref: NCIT:C131859 {source="MONDO:equivalentTo"} xref: OMIM:520000 {source="Orphanet:225", source="MONDO:equivalentTo", source="Orphanet:225/e"} xref: Orphanet:225 {source="OMIM:520000", source="MONDO:equivalentTo"} xref: SCTID:237619009 {source="MONDO:equivalentTo"} xref: UMLS:C0342289 {source="Orphanet:225", source="OMIM:520000", source="MONDO:equivalentTo", source="Orphanet:225/e", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4330695 {source="MONDO:equivalentTo"} is_a: EFO:1001511 ! monogenic diabetes is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0015967"} ! rare property_value: exactMatch http://identifiers.org/mesh/C536246 property_value: exactMatch http://identifiers.org/snomedct/237619009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342289 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4330695 property_value: exactMatch https://omim.org/entry/520000 property_value: exactMatch NCIT:C131859 property_value: exactMatch Orphanet:225 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4003/maternally-inherited-diabetes-and-deafness xsd:anyURI {source="GARD:0004003"} [Term] id: MONDO:0010786 name: chronic diarrhea with villous atrophy def: "Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insuficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994." [Orphanet:1670] subset: ordo_disease {source="Orphanet:1670"} synonym: "diarrhea, chronic, with villous atrophy" RELATED [OMIM:520100] xref: ICD10CM:K59.1 {source="Orphanet:1670", source="MONDO:relatedTo", source="Orphanet:1670/attributed", source="Orphanet:1670/ntbt"} xref: MESH:C564019 {source="MONDO:equivalentTo"} xref: OMIM:520100 {source="Orphanet:1670", source="MONDO:equivalentTo", source="Orphanet:1670/e"} xref: Orphanet:1670 {source="OMIM:520100", source="MONDO:equivalentTo"} xref: UMLS:C1838912 {source="Orphanet:1670", source="OMIM:520100", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0019126 {source="Orphanet:1670"} ! intractable diarrhea of infancy property_value: exactMatch http://identifiers.org/mesh/C564019 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838912 property_value: exactMatch https://omim.org/entry/520100 property_value: exactMatch Orphanet:1670 [Term] id: MONDO:0010787 name: Kearns-Sayre syndrome def: "Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." [Orphanet:480] subset: gard_rare {source="GARD:0006817"} subset: ordo_disease {source="Orphanet:480"} synonym: "chronic progressive external ophthalmoplegia with myopathy" RELATED [OMIM:530000] synonym: "CPEO with myopathy" RELATED [OMIM:530000] synonym: "CPEO with ragged red fibers" RELATED [GARD:0006817] synonym: "CPEO with ragged red fibres" RELATED OMO:0003005 [] synonym: "CPEO with ragged-Red fibers" RELATED [OMIM:530000] synonym: "CPEO with ragged-Red fibres" RELATED OMO:0003005 [] synonym: "Kearns-Sayre syndrome" EXACT [MONDO:Lexical, OMIM:530000] synonym: "KSS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:530000] synonym: "mitochondrial Cytopathy" RELATED [OMIM:530000] synonym: "oculocraniosomatic syndrome" RELATED [OMIM:530000] synonym: "ophthalmoplegia plus syndrome" RELATED [GARD:0006817] synonym: "ophthalmoplegia, pigmentary Degeneration of retina, and cardiomyopathy" RELATED [OMIM:530000] synonym: "ophthalmoplegia, progressive external, with ragged red fibers" RELATED [GARD:0006817] synonym: "ophthalmoplegia, progressive external, with ragged red fibres" RELATED OMO:0003005 [] synonym: "ophthalmoplegia, progressive external, with ragged-Red fibers" RELATED [OMIM:530000] synonym: "ophthalmoplegia, progressive external, with ragged-Red fibres" RELATED OMO:0003005 [] synonym: "ophthalmoplegia-plus syndrome" RELATED [OMIM:530000] xref: DOID:12934 {source="MONDO:equivalentTo"} xref: MedDRA:10048804 {source="Orphanet:480", source="Orphanet:480/e"} xref: MESH:D007625 {source="DOID:12934", source="MONDO:equivalentTo", source="Orphanet:480", source="Orphanet:480/e"} xref: NCIT:C84798 {source="DOID:12934", source="MONDO:equivalentTo"} xref: OMIM:530000 {source="DOID:12934", source="MONDO:equivalentTo", source="Orphanet:480", source="Orphanet:480/e"} xref: Orphanet:480 {source="OMIM:530000", source="MONDO:equivalentTo"} xref: SCTID:25792000 {source="DOID:12934", source="MONDO:equivalentTo"} xref: UMLS:C0022541 {source="NCIT:C84798", source="OMIM:530000", source="DOID:12934", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:480", source="Orphanet:480/e"} is_a: EFO:0002509 {source="DOID:12934", source="MESH:D007625"} ! progressive external ophthalmoplegia is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0016333 ! familial dilated cardiomyopathy is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0020127 ! hereditary peripheral neuropathy is_a: MONDO:0020240 {source="Orphanet:480"} ! syndromic retinitis pigmentosa property_value: closeMatch http://identifiers.org/meddra/10048804 property_value: exactMatch DOID:12934 property_value: exactMatch http://identifiers.org/mesh/D007625 property_value: exactMatch http://identifiers.org/snomedct/25792000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022541 property_value: exactMatch https://omim.org/entry/530000 property_value: exactMatch NCIT:C84798 property_value: exactMatch Orphanet:480 property_value: excluded_subClassOf MONDO:0015368 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6817/kearns-sayre-syndrome xsd:anyURI {source="GARD:0006817"} [Term] id: MONDO:0010788 name: Leber hereditary optic neuropathy def: "Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." [Orphanet:104] subset: ordo_disease {source="Orphanet:104"} synonym: "Leber Hereditary optic atrophy" EXACT [NCIT:C84808] synonym: "Leber hereditary optic neuropathy" EXACT [OMIM:535000] synonym: "Leber optic atrophy" EXACT [OMIM:535000, Orphanet:104] synonym: "Leber's hereditary optic neuropathy" EXACT [DOID:705] synonym: "Leber's optic atrophy" EXACT [DOID:705] synonym: "Leber’s disease" RELATED [GARD:0006870] synonym: "LHON" EXACT ABBREVIATION [Orphanet:104] synonym: "optic atrophy, Leber type" RELATED [GARD:0006870] xref: DOID:705 {source="MONDO:equivalentTo"} xref: MESH:D029242 {source="DOID:705", source="MONDO:equivalentTo"} xref: NCIT:C84808 {source="DOID:705", source="MONDO:equivalentTo"} xref: OMIM:535000 {source="Orphanet:104", source="DOID:705", source="MONDO:equivalentTo", source="Orphanet:104/e"} xref: Orphanet:104 {source="OMIM:535000", source="MONDO:equivalentTo"} xref: SCTID:58610003 {source="DOID:705", source="MONDO:equivalentTo"} xref: UMLS:C0917796 {source="Orphanet:104", source="OMIM:535000", source="DOID:705", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0004884 ! eye degenerative disorder is_a: MONDO:0016333 ! familial dilated cardiomyopathy is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0020249 {source="Orphanet:104"} ! hereditary optic neuropathy is_a: MONDO:0043878 {source="MESH:D029242", source="NCIT:C84808"} ! hereditary optic atrophy property_value: exactMatch DOID:705 property_value: exactMatch http://identifiers.org/mesh/D029242 property_value: exactMatch http://identifiers.org/snomedct/58610003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0917796 property_value: exactMatch https://omim.org/entry/535000 property_value: exactMatch NCIT:C84808 property_value: exactMatch Orphanet:104 [Term] id: MONDO:0010789 name: MELAS syndrome def: "MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations." [Orphanet:550] subset: ordo_disease {source="Orphanet:550"} synonym: "MELAS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:540000] synonym: "MELAS syndrome" EXACT [OMIM:540000] synonym: "mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes" RELATED [GARD:0007009] synonym: "mitochondrial encephalomyopathy, lactic acidosis and stroke" EXACT [NCIT:C84885] synonym: "mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes" EXACT [Orphanet:550] synonym: "mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes" EXACT [Orphanet:550] synonym: "mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes" EXACT [DOID:3687, MONDO:Lexical, OMIM:540000] xref: DOID:3687 {source="MONDO:equivalentTo"} xref: ICD10CM:E88.41 {source="DOID:3687", source="MONDO:equivalentTo"} xref: ICD9:277.87 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10053872 {source="Orphanet:550/e", source="Orphanet:550"} xref: MESH:D017241 {source="Orphanet:550/e", source="DOID:3687", source="MONDO:equivalentTo", source="Orphanet:550"} xref: NCIT:C84885 {source="DOID:3687", source="MONDO:equivalentTo"} xref: OMIM:540000 {source="Orphanet:550/e", source="DOID:3687", source="MONDO:equivalentTo", source="Orphanet:550"} xref: Orphanet:550 {source="MONDO:equivalentTo", source="OMIM:540000"} xref: SCTID:39925003 {source="DOID:3687", source="MONDO:equivalentTo"} xref: UMLS:C0162671 {source="Orphanet:550/e", source="DOID:3687", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:540000", source="Orphanet:550", source="NCIT:C84885"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84885"} ! syndromic disease is_a: MONDO:0004675 {source="DOID:3687", source="MESH:D017241"} ! mitochondrial encephalomyopathy property_value: closeMatch http://identifiers.org/meddra/10053872 property_value: exactMatch DOID:3687 property_value: exactMatch http://identifiers.org/mesh/D017241 property_value: exactMatch http://identifiers.org/snomedct/39925003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162671 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E88.41 property_value: exactMatch https://omim.org/entry/540000 property_value: exactMatch NCIT:C84885 property_value: exactMatch Orphanet:550 [Term] id: MONDO:0010790 name: MERRF syndrome def: "A condition that can be caused by mutation(s) in more than one mitochondrial gene. It is characterized by myoclonic epilepsy and ragged-red fibers present on muscle biopsy." [NCIT:P378] subset: ordo_disease {source="Orphanet:551"} synonym: "Fukuhara syndrome" EXACT [Orphanet:551] synonym: "MERRF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:545000] synonym: "MERRF syndrome" EXACT [OMIM:545000] synonym: "myoclonic epilepsy - ragged red fibers" EXACT [DOID:310] synonym: "myoclonic epilepsy - ragged red fibres" EXACT OMO:0003005 [] synonym: "myoclonic epilepsy associated with ragged red fibers" RELATED [GARD:0007144] synonym: "myoclonic epilepsy associated with ragged red fibres" RELATED OMO:0003005 [] synonym: "myoclonic epilepsy associated with ragged-RED fibers" RELATED [MONDO:Lexical, OMIM:545000] synonym: "myoclonic epilepsy associated with ragged-RED fibres" RELATED OMO:0003005 [] synonym: "myoclonic epilepsy with ragged red fibers" RELATED [GARD:0007144] synonym: "myoclonic epilepsy with ragged red fibres" RELATED OMO:0003005 [] synonym: "myoclonus epilepsy and ragged red fibers" EXACT [DOID:310] synonym: "myoclonus epilepsy and ragged red fibres" EXACT OMO:0003005 [] synonym: "myoclonus epilepsy associated with ragged-red fibers" EXACT [Orphanet:551] synonym: "myoclonus epilepsy associated with ragged-red fibres" EXACT OMO:0003005 [] synonym: "myoclonus with epilepsy and with ragged Red fibers" EXACT [DOID:310] synonym: "myoclonus with epilepsy and with ragged Red fibers (MERRF syndrome)" EXACT [DOID:310] synonym: "myoclonus with epilepsy and with ragged Red fibres" EXACT OMO:0003005 [] synonym: "myoclonus with epilepsy and with ragged Red fibres (MERRF syndrome)" EXACT OMO:0003005 [] synonym: "myoencephalopathy ragged-red fiber disease" RELATED [GARD:0007144] synonym: "myoencephalopathy ragged-red fibre disease" RELATED OMO:0003005 [] xref: DOID:310 {source="MONDO:equivalentTo"} xref: ICD10CM:E88.42 {source="MONDO:equivalentTo", source="DOID:310"} xref: ICD9:277.87 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10069825 {source="Orphanet:551/e", source="Orphanet:551"} xref: MESH:D017243 {source="Orphanet:551/e", source="MONDO:equivalentTo", source="DOID:310", source="Orphanet:551"} xref: NCIT:C84889 {source="MONDO:equivalentTo", source="DOID:310"} xref: OMIM:545000 {source="Orphanet:551/e", source="MONDO:equivalentTo", source="DOID:310", source="Orphanet:551"} xref: Orphanet:551 {source="OMIM:545000", source="MONDO:equivalentTo"} xref: SCTID:68448003 {source="MONDO:equivalentTo", source="DOID:310"} xref: UMLS:C0162672 {source="OMIM:545000", source="NCIT:C84889", source="Orphanet:551/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:310", source="Orphanet:551"} is_a: MONDO:0002254 {source="NCIT:C84889"} ! syndromic disease is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0004675 {source="DOID:310", source="MESH:D017243"} ! mitochondrial encephalomyopathy is_a: MONDO:0016022 {source="DC-OMIM:545000"} ! early myoclonic encephalopathy is_a: MONDO:0016333 ! familial dilated cardiomyopathy is_a: MONDO:0020127 ! hereditary peripheral neuropathy property_value: closeMatch http://identifiers.org/meddra/10069825 property_value: exactMatch DOID:310 property_value: exactMatch http://identifiers.org/mesh/D017243 property_value: exactMatch http://identifiers.org/snomedct/68448003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162672 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E88.42 property_value: exactMatch https://omim.org/entry/545000 property_value: exactMatch NCIT:C84889 property_value: exactMatch Orphanet:551 [Term] id: MONDO:0010792 name: lethal infantile mitochondrial myopathy def: "Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures." [Orphanet:254857] subset: ordo_disease {source="Orphanet:254857"} synonym: "lethal infantile mitochondrial disease" EXACT [Orphanet:254857] synonym: "LIMD" EXACT ABBREVIATION [Orphanet:254857] synonym: "LIMM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:551000, Orphanet:254857] synonym: "mitochondrial myopathy, lethal, infantile" RELATED [MONDO:Lexical, OMIM:551000] xref: MESH:C564017 {source="MONDO:equivalentTo"} xref: OMIM:551000 {source="Orphanet:254857/e", source="MONDO:equivalentTo", source="Orphanet:254857"} xref: Orphanet:254857 {source="MONDO:equivalentTo", source="OMIM:551000"} xref: SCTID:766251006 {source="MONDO:equivalentTo"} xref: UMLS:C1838876 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:551000", source="Orphanet:254857"} is_a: MONDO:0009637 {source="DC-OMIM:551000", source="MESH:C564017"} ! inborn mitochondrial myopathy is_a: MONDO:0016794 {source="Orphanet:254857"} ! maternally-inherited mitochondrial myopathy property_value: exactMatch http://identifiers.org/mesh/C564017 property_value: exactMatch http://identifiers.org/snomedct/766251006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838876 property_value: exactMatch https://omim.org/entry/551000 property_value: exactMatch Orphanet:254857 [Term] id: MONDO:0010794 name: NARP syndrome def: "Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." [Orphanet:644] subset: ordo_disease {source="Orphanet:644"} synonym: "NARP" RELATED ABBREVIATION [GARD:0000262] synonym: "NARP syndrome" EXACT [OMIM:551500] synonym: "neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome" EXACT [Orphanet:644] synonym: "neuropathy ataxia retinitis pigmentosa syndrome" RELATED [GARD:0000262] synonym: "neuropathy, ataxia, and retinitis pigmentosa" RELATED [OMIM:551500] synonym: "neuropathy-ataxia-retinitis pigmentosa syndrome" EXACT [Orphanet:644] xref: DOID:0111273 {source="MONDO:equivalentTo"} xref: MedDRA:10062940 {source="Orphanet:644", source="Orphanet:644/e"} xref: MESH:C537396 {source="MONDO:equivalentTo"} xref: OMIM:551500 {source="Orphanet:644", source="MONDO:equivalentTo", source="Orphanet:644/e"} xref: Orphanet:644 {source="MONDO:equivalentTo", source="OMIM:551500"} xref: UMLS:C1328349 {source="Orphanet:644", source="MONDO:equivalentTo", source="Orphanet:644/e", source="OMIM:551500"} is_a: MONDO:0015653 ! monogenic epilepsy is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0020127 ! hereditary peripheral neuropathy is_a: MONDO:0100033 ! metabolic epilepsy property_value: closeMatch http://identifiers.org/meddra/10062940 property_value: exactMatch DOID:0111273 property_value: exactMatch http://identifiers.org/mesh/C537396 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1328349 property_value: exactMatch https://omim.org/entry/551500 property_value: exactMatch Orphanet:644 [Term] id: MONDO:0010795 name: oncocytic neoplasm def: "A usually benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic neoplasms of the thyroid gland, and kidney. (NCI05)" [NCIT:C7072] synonym: "oncocytic neoplasm" EXACT [NCIT:C7072] synonym: "oncocytic tumor" EXACT [NCIT:C7072] synonym: "oncocytic tumour" EXACT OMO:0003005 [] synonym: "oncocytoma" BROAD [NCIT:C7072] synonym: "oncocytoma, benign" EXACT [NCIT:C7072] xref: NCIT:C7072 {source="MONDO:equivalentTo"} xref: OMIM:553000 {source="MONDO:equivalentTo"} xref: UMLS:C1378050 {source="MONDO:equivalentTo", source="NCIT:C7072"} is_a: MONDO:0024276 {source="NCIT:C7072"} ! glandular cell neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1378050 property_value: exactMatch https://omim.org/entry/553000 property_value: exactMatch NCIT:C7072 [Term] id: MONDO:0010796 name: Parkinson disease, mitochondrial synonym: "Parkinson disease, mitochondrial" EXACT [OMIM:556500] xref: MESH:C564015 {source="MONDO:equivalentTo"} xref: OMIM:556500 {source="MONDO:equivalentTo"} xref: UMLS:C1838867 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:556500"} is_a: MONDO:0005180 {source="DC-OMIM:556500", source="MESH:C564015"} ! Parkinson disease property_value: exactMatch http://identifiers.org/mesh/C564015 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838867 property_value: exactMatch https://omim.org/entry/556500 [Term] id: MONDO:0010797 name: Pearson syndrome def: "Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction." [Orphanet:699] subset: gard_rare {source="GARD:0007343"} subset: ordo_disease {source="Orphanet:699"} synonym: "Pearson marrow-pancreas syndrome" EXACT [DOID:0060067, OMIM:557000] synonym: "Pearson's marrow/pancreas syndrome" RELATED [GARD:0007343] synonym: "Pearson's syndrome" RELATED [GARD:0007343] synonym: "sideroblastic Anaemia with marrow cell vacuolization and exocrine pancreatic dysfunction" RELATED OMO:0003005 [] synonym: "sideroblastic anaemia with marrow cell vacuolization and exocrine pancreatic dysfunction (formerly)" RELATED OMO:0003005 [] synonym: "sideroblastic Anemia with marrow cell vacuolization and exocrine pancreatic dysfunction" RELATED [OMIM:557000] synonym: "sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction (formerly)" RELATED [GARD:0007343] xref: DOID:0060067 {source="MONDO:equivalentTo"} xref: ICD9:277.87 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10062941 {source="Orphanet:699", source="Orphanet:699/e"} xref: NCIT:C115326 {source="MONDO:equivalentTo"} xref: OMIM:557000 {source="DOID:0060067", source="Orphanet:699", source="MONDO:equivalentTo", source="Orphanet:699/e"} xref: Orphanet:699 {source="OMIM:557000", source="MONDO:equivalentTo"} xref: SCTID:237985009 {source="MONDO:equivalentTo"} xref: UMLS:C0342784 {source="OMIM:557000", source="Orphanet:699", source="MONDO:equivalentTo", source="NCIT:C115326"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C115326"} ! syndromic disease property_value: closeMatch http://identifiers.org/meddra/10062941 property_value: exactMatch DOID:0060067 property_value: exactMatch http://identifiers.org/snomedct/237985009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342784 property_value: exactMatch https://omim.org/entry/557000 property_value: exactMatch NCIT:C115326 property_value: exactMatch Orphanet:699 property_value: excluded_subClassOf MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} property_value: excluded_subClassOf MONDO:0015188 {source="Orphanet:699"} property_value: excluded_subClassOf MONDO:0015895 {source="Orphanet:699"} property_value: excluded_subClassOf MONDO:0016792 {source="Orphanet:699"} property_value: excluded_subClassOf MONDO:0020099 {source="Orphanet:699"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7343/pearson-syndrome xsd:anyURI {source="GARD:0007343"} [Term] id: MONDO:0010798 name: proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome def: "Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome is characterized by onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus." [Orphanet:3390] subset: ordo_disease {source="Orphanet:3390"} synonym: "proximal tubulopathy, diabetes mellitus and cerebellar ataxia" RELATED [GARD:0004532] synonym: "renal tubulopathy, diabetes mellitus, and cerebellar ataxia" RELATED [OMIM:560000] synonym: "renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA" RELATED [GARD:0004532] xref: MESH:C564014 {source="MONDO:equivalentTo"} xref: OMIM:560000 {source="MONDO:equivalentTo", source="Orphanet:3390", source="Orphanet:3390/e"} xref: Orphanet:3390 {source="MONDO:equivalentObsolete", source="OMIM:560000"} xref: UMLS:C3151959 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:560000"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: exactMatch http://identifiers.org/mesh/C564014 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151959 property_value: exactMatch https://omim.org/entry/560000 [Term] id: MONDO:0010799 name: deafness, aminoglycoside-induced subset: ordo_etiological_subtype {source="Orphanet:168609"} subset: predisposition synonym: "aminoglycoside-induced deafness" EXACT [OMIM:580000] synonym: "aminoglycoside-induced hearing loss" BROAD [https://orcid.org/0000-0002-6025-0015] synonym: "deafness, aminoglycoside-induced" EXACT [OMIM:580000] synonym: "deafness, mitochondrial, modifier of, mitochondrial" EXACT [OMIM:580000, OMIM:genemap2] synonym: "deafness, streptomycin-induced" EXACT [OMIM:580000] synonym: "mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure" EXACT [Orphanet:168609] synonym: "mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure" BROAD [Orphanet:168609] synonym: "mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure" EXACT [Orphanet:168609] synonym: "mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure" BROAD [Orphanet:168609] synonym: "mitochondrial non-syndromic neurosensory deafness with susceptibility to aminoglycoside exposure" EXACT [Orphanet:168609] synonym: "mitochondrial non-syndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure" BROAD [Orphanet:168609] synonym: "mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure" EXACT [Orphanet:168609] synonym: "mitochondrial non-syndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure" BROAD [Orphanet:168609] synonym: "streptomycin ototoxicity" EXACT [OMIM:580000] xref: DOID:0111734 {source="MONDO:equivalentTo"} xref: MESH:C564013 {source="MONDO:equivalentTo"} xref: OMIM:580000 {source="Orphanet:168609/e", source="MONDO:equivalentTo", source="Orphanet:168609"} xref: Orphanet:168609 {source="MONDO:equivalentObsolete", source="OMIM:580000"} xref: UMLS:C1838854 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:580000"} is_a: MONDO:0016298 {source="Orphanet:168609"} ! postlingual non-syndromic genetic hearing loss is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder property_value: exactMatch DOID:0111734 property_value: exactMatch http://identifiers.org/mesh/C564013 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838854 property_value: exactMatch https://omim.org/entry/580000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4279 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/551 xsd:anyURI [Term] id: MONDO:0010801 name: spondylocamptodactyly syndrome def: "Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis." [Orphanet:3180] subset: ordo_malformation_syndrome {source="Orphanet:3180"} synonym: "camptodactyly with cervical platyspondyly" RELATED [OMIM:600000] synonym: "spondylo camptodactyly syndrome" RELATED [GARD:0004972] synonym: "spondylocamptodactyly" RELATED [OMIM:600000] xref: MESH:C535779 {source="MONDO:equivalentTo", source="Orphanet:3180", source="Orphanet:3180/e"} xref: OMIM:600000 {source="MONDO:equivalentTo", source="Orphanet:3180", source="Orphanet:3180/e"} xref: Orphanet:3180 {source="OMIM:600000", source="MONDO:equivalentTo"} xref: SCTID:716231009 {source="MONDO:equivalentTo"} xref: UMLS:C1838781 {source="OMIM:600000", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3180", source="Orphanet:3180/e"} xref: UMLS:C4274762 {source="MONDO:equivalentTo"} is_a: MONDO:0019694 {source="Orphanet:3180"} ! spondylodysplastic dysplasia property_value: exactMatch http://identifiers.org/mesh/C535779 property_value: exactMatch http://identifiers.org/snomedct/716231009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838781 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274762 property_value: exactMatch https://omim.org/entry/600000 property_value: exactMatch Orphanet:3180 [Term] id: MONDO:0010802 name: pancreatic hypoplasia-diabetes-congenital heart disease syndrome def: "Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis)." [Orphanet:2255] subset: ordo_disease {source="Orphanet:2255"} synonym: "congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease" RELATED [GARD:0000347] synonym: "HDCA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600001] synonym: "heart defects, congenital, and other congenital anomalies" RELATED [MONDO:Lexical, OMIM:600001] synonym: "hereditary pancreatic hypoplasia, diabetes mellitus and congenital heart disease" RELATED [GARD:0000347] synonym: "pancreatic agenesis and congenital heart defects" RELATED [OMIM:600001] synonym: "pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease" RELATED [OMIM:600001] synonym: "pancreatic hypoplasia-diabetes-congenital heart disease syndrome" EXACT [] synonym: "Yorifuji Okuno syndrome" RELATED [GARD:0000347] synonym: "Yorifuji-Okuno syndrome" EXACT [Orphanet:2255] xref: DOID:0111733 {source="MONDO:equivalentTo"} xref: MESH:C564011 {source="MONDO:equivalentTo"} xref: OMIM:600001 {source="Orphanet:2255", source="MONDO:equivalentTo", source="Orphanet:2255/e"} xref: Orphanet:2255 {source="OMIM:600001", source="MONDO:equivalentTo"} xref: SCTID:722206009 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015967"} ! rare relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch DOID:0111733 property_value: exactMatch http://identifiers.org/mesh/C564011 property_value: exactMatch http://identifiers.org/snomedct/722206009 property_value: exactMatch https://omim.org/entry/600001 property_value: exactMatch Orphanet:2255 property_value: excluded_subClassOf MONDO:0005015 {source="MONDO:0015888-obsoleted", source="Orphanet:2255"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5723 xsd:anyURI [Term] id: MONDO:0010803 name: Eiken syndrome def: "Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family." [Orphanet:79106] subset: ordo_malformation_syndrome {source="Orphanet:79106"} synonym: "bone modeling defect of hands and feet" RELATED [OMIM:600002] synonym: "bone modelling defect of hands and feet" RELATED OMO:0003005 [] synonym: "Eiken skeletal dysplasia" RELATED [OMIM:600002] synonym: "Eiken syndrome" EXACT [OMIM:600002] xref: DOID:0111732 {source="MONDO:equivalentTo"} xref: MESH:C564010 {source="MONDO:equivalentTo"} xref: OMIM:600002 {source="Orphanet:79106", source="MONDO:equivalentTo", source="Orphanet:79106/e"} xref: Orphanet:79106 {source="OMIM:600002", source="MONDO:equivalentTo"} xref: SCTID:720863002 {source="MONDO:equivalentTo"} xref: UMLS:C1838779 {source="Orphanet:79106", source="OMIM:600002", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019692 {source="Orphanet:79106"} ! multiple epiphyseal dysplasia and pseudoachondroplasia is_a: MONDO:0019693 {source="PMID:31633310"} ! multiple metaphyseal dysplasia property_value: exactMatch DOID:0111732 property_value: exactMatch http://identifiers.org/mesh/C564010 property_value: exactMatch http://identifiers.org/snomedct/720863002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838779 property_value: exactMatch https://omim.org/entry/600002 property_value: exactMatch Orphanet:79106 property_value: excluded_subClassOf MONDO:0019705 {source="Orphanet:79106"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0010805 name: bladder exstrophy def: "Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall." [Orphanet:93930] subset: ordo_clinical_subtype {source="Orphanet:93930"} synonym: "bladder exstrophy" EXACT [MONDO:ambiguous] synonym: "bladder exstrophy (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "bladder exstrophy and epispadias Complex" RELATED [OMIM:600057] synonym: "classic exstrophy of the bladder" EXACT [Orphanet:93930] synonym: "ectopia vesicae" EXACT [NCIT:C123207] synonym: "exstrophy of bladder" RELATED [OMIM:600057] synonym: "exstrophy of the bladder" RELATED [GARD:0006398] xref: DOID:0080174 {source="MONDO:equivalentTo"} xref: HP:0002836 {source="MONDO:otherHierarchy"} xref: ICD9:753.5 {source="DOID:0080174", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D001746 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo", source="Orphanet:93930", source="Orphanet:93930/e"} xref: NCIT:C123207 {source="MONDO:equivalentTo"} xref: Orphanet:93930 {source="DOID:0080174", source="OMIM:600057", source="MONDO:equivalentTo"} xref: SCTID:61758007 {source="MONDO:equivalentTo"} xref: UMLS:C0005689 {source="OMIM:600057", source="MONDO:equivalentTo", source="Orphanet:93930", source="NCIT:C123207", source="Orphanet:93930/e"} is_a: MONDO:0017919 {source="DOID:0080174", source="Orphanet:93930"} ! exstrophy-epispadias complex property_value: exactMatch DOID:0080174 property_value: exactMatch http://identifiers.org/mesh/D001746 property_value: exactMatch http://identifiers.org/snomedct/61758007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005689 property_value: exactMatch NCIT:C123207 property_value: exactMatch Orphanet:93930 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3650 xsd:anyURI property_value: IAO:0000589 "bladder exstrophy (disease)" xsd:string [Term] id: MONDO:0010808 name: fatal familial insomnia def: "Fatal familial insomnia (FFI) is a very rare form of prion disease characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances." [Orphanet:466] subset: gard_rare {source="GARD:0006429"} subset: ordo_disease {source="Orphanet:466"} synonym: "familial fatal insomnia" RELATED [GARD:0006429] synonym: "fatal familial INSOMNIA" RELATED [OMIM:600072] synonym: "fatal familial insomnia" EXACT [MONDO:Lexical, OMIM:600072] synonym: "FFI" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600072] synonym: "Insomnia familial fatal" RELATED [GARD:0006429] synonym: "Insomnia, fatal familial" RELATED [OMIM:600072] xref: DOID:0050433 {source="MONDO:equivalentTo"} xref: ICD10CM:A81.83 {source="DOID:0050433", source="MONDO:equivalentTo"} xref: ICD9:046.72 {source="DOID:0050433"} xref: MedDRA:10072077 {source="Orphanet:466", source="Orphanet:466/e"} xref: MESH:D034062 {source="Orphanet:466", source="DOID:0050433", source="MONDO:equivalentTo", source="Orphanet:466/e"} xref: NCIT:C84711 {source="DOID:0050433", source="MONDO:equivalentTo"} xref: OMIM:600072 {source="Orphanet:466", source="DOID:0050433", source="MONDO:equivalentTo", source="Orphanet:466/e"} xref: Orphanet:466 {source="MONDO:equivalentTo", source="OMIM:600072"} xref: SCTID:83157008 {source="DOID:0050433", source="MONDO:equivalentTo"} xref: UMLS:C0206042 {source="NCIT:C84711", source="Orphanet:466", source="DOID:0050433", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:466/e", source="OMIM:600072"} is_a: EFO:0004698 {source="MESH:D034062", source="NCIT:C84711"} ! insomnia is_a: MONDO:0017234 {source="Orphanet:466"} ! inherited prion disease property_value: closeMatch http://identifiers.org/meddra/10072077 property_value: exactMatch DOID:0050433 property_value: exactMatch http://identifiers.org/mesh/D034062 property_value: exactMatch http://identifiers.org/snomedct/83157008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206042 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A81.83 property_value: exactMatch https://omim.org/entry/600072 property_value: exactMatch NCIT:C84711 property_value: exactMatch Orphanet:466 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6429/fatal-familial-insomnia xsd:anyURI {source="GARD:0006429"} [Term] id: MONDO:0010813 name: pancreatic beta cell agenesis with neonatal diabetes mellitus synonym: "diabetes mellitus, insulin-dependent, neonatal" EXACT [OMIM:600089, OMIM:genemap2] synonym: "pancreatic beta cell agenesis with neonatal diabetes mellitus" EXACT [OMIM:600089] xref: MESH:C538111 {source="MONDO:equivalentTo"} xref: OMIM:600089 {source="MONDO:equivalentTo"} xref: Orphanet:28455 {source="OMIM:600089", source="MONDO:equivalentObsolete"} xref: UMLS:C1838655 {source="OMIM:600089", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0000508 {source="Orphanet:28455/inferred"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C538111 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838655 property_value: exactMatch https://omim.org/entry/600089 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010814 name: chondrodysplasia-pseudohermaphroditism syndrome def: "Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development, reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic disks), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested." [Orphanet:1422] subset: ordo_malformation_syndrome {source="Orphanet:1422"} synonym: "chondrodysplasia-disorder of sex development syndrome" EXACT [DOID:0060644] synonym: "chondrodysplasia-pseudohermaphroditism syndrome" EXACT [OMIM:600092, Orphanet:1422] synonym: "Nivelon-Nivelon-Mabille syndrome" EXACT [DOID:0060644, Orphanet:1422] xref: DOID:0060644 {source="MONDO:equivalentTo"} xref: MESH:C536123 {source="MONDO:equivalentTo"} xref: OMIM:600092 {source="Orphanet:1422", source="DOID:0060644", source="MONDO:equivalentTo", source="Orphanet:1422/e"} xref: Orphanet:1422 {source="DOID:0060644", source="MONDO:equivalentTo", source="OMIM:600092"} xref: SCTID:720851007 {source="MONDO:equivalentTo"} xref: UMLS:C1838654 {source="Orphanet:1422", source="DOID:0060644", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1422/e", source="OMIM:600092"} is_a: MONDO:0002254 {source="DOID:0060644"} ! syndromic disease is_a: MONDO:0020040 ! 46,XY disorder of sex development relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch DOID:0060644 property_value: exactMatch http://identifiers.org/mesh/C536123 property_value: exactMatch http://identifiers.org/snomedct/720851007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838654 property_value: exactMatch https://omim.org/entry/600092 property_value: exactMatch Orphanet:1422 property_value: excluded_subClassOf MONDO:0018232 {source="Orphanet:1422"} [Term] id: MONDO:0010816 name: Qazi Markouizos syndrome def: "Qazi-Markouizos syndrome is characterized principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibers. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys." [Orphanet:3010] subset: gard_rare {source="GARD:0000371"} subset: ordo_disease {source="Orphanet:3010"} synonym: "Dysharmonic skeletal maturation - muscular fiber disproportion" EXACT [DOID:0050740] synonym: "Dysharmonic skeletal maturation - muscular fibre disproportion" EXACT OMO:0003005 [] synonym: "Dysharmonic skeletal maturation muscular fiber disproportion" RELATED [GARD:0000371] synonym: "Dysharmonic skeletal maturation muscular fibre disproportion" RELATED OMO:0003005 [] synonym: "Dysharmonic skeletal maturation-muscular fiber disproportion syndrome" EXACT [Orphanet:3010] synonym: "Dysharmonic skeletal maturation-muscular fibre disproportion syndrome" EXACT OMO:0003005 [] synonym: "hypotonia, psychomotor retardation, seizures, delayed and Dysharmonic skeletal maturation, and congenital fiber type disproportion" RELATED [GARD:0000371] synonym: "hypotonia, psychomotor retardation, seizures, delayed and Dysharmonic skeletal maturation, and congenital fibre type disproportion" RELATED OMO:0003005 [] synonym: "PUERTO RICAN infant hypotonia syndrome" RELATED [OMIM:600096] synonym: "Puertorican infant hypotonia syndrome" RELATED [GARD:0000371] synonym: "Qazi-Markouizos syndrome" EXACT [DOID:0050740] xref: DOID:0050740 {source="MONDO:equivalentTo"} xref: MESH:C536259 {source="Orphanet:3010/e", source="MONDO:equivalentTo", source="Orphanet:3010"} xref: OMIM:600096 {source="DOID:0050740", source="Orphanet:3010/e", source="MONDO:equivalentTo", source="Orphanet:3010"} xref: Orphanet:3010 {source="MONDO:equivalentTo", source="OMIM:600096"} xref: SCTID:721887007 {source="MONDO:equivalentTo"} xref: UMLS:C2931142 {source="Orphanet:3010/e", source="MONDO:equivalentTo", source="OMIM:600096", source="Orphanet:3010"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: exactMatch DOID:0050740 property_value: exactMatch http://identifiers.org/mesh/C536259 property_value: exactMatch http://identifiers.org/snomedct/721887007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931142 property_value: exactMatch https://omim.org/entry/600096 property_value: exactMatch Orphanet:3010 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:3010"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/371/qazi-markouizos-syndrome xsd:anyURI {source="GARD:0000371"} [Term] id: MONDO:0010817 name: autosomal dominant nonsyndromic hearing loss 2A def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KCNQ4 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant deafness 2A" NARROW [DOID:0110558] synonym: "autosomal dominant nonsyndromic deafness 2A" NARROW [OMIM:600101] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in KCNQ4" NARROW [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 2A" NARROW [DOID:0110558, MONDORULE:4] synonym: "deafness, autosomal dominant 2A" NARROW [MONDO:Lexical, OMIM:600101] synonym: "deafness, autosomal dominant 2a" NARROW [OMIM:600101, OMIM:genemap2] synonym: "deafness, autosomal dominant type 2A" NARROW [MONDORULE:4, OMIM:600101] synonym: "DFNA2A" NARROW ABBREVIATION [DOID:0110558, MONDO:Lexical, OMIM:600101] synonym: "KCNQ4 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110558 {source="MONDO:equivalentTo"} xref: MESH:C567441 {source="MONDO:equivalentTo"} xref: OMIM:600101 {source="DOID:0110558", source="MONDO:equivalentTo"} xref: UMLS:C2677637 {source="OMIM:600101", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019587 {source="DC-OMIM:600101", source="DOID:0110558", source="MONDO:Redundant", source="OMIM:600101"} ! autosomal dominant nonsyndromic hearing loss property_value: exactMatch DOID:0110558 property_value: exactMatch http://identifiers.org/mesh/C567441 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677637 property_value: exactMatch https://omim.org/entry/600101 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/551 xsd:anyURI [Term] id: MONDO:0010823 name: rhizomelic chondrodysplasia punctata type 3 def: "Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the AGPS gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0009682"} subset: ordo_etiological_subtype {source="Orphanet:309803"} synonym: "AGPS deficiency" BROAD [DOID:0110853] synonym: "AGPS rhizomelic chondrodysplasia punctata" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "alkyldihydroxyacetonephosphate synthase deficiency" BROAD [DOID:0110853, OMIM:600121] synonym: "alkylglycerone-phosphate synthase deficiency" BROAD [DOID:0110853, GARD:0009682, OMIM:600121] synonym: "RCDP3" EXACT ABBREVIATION [DOID:0110853, MONDO:Lexical, OMIM:600121] synonym: "rhizomelic chondrodysplasia punctata caused by mutation in AGPS" EXACT [MONDO:design_pattern] synonym: "rhizomelic chondrodysplasia punctata type 3" EXACT [OMIM:600121] synonym: "rhizomelic chondrodysplasia punctata, type 3" RELATED [GARD:0009682, MONDO:Lexical, OMIM:600121] xref: DOID:0110853 {source="MONDO:equivalentTo"} xref: MESH:C537608 {source="MONDO:equivalentTo"} xref: OMIM:600121 {source="DOID:0110853", source="Orphanet:309803", source="MONDO:equivalentTo", source="Orphanet:309803/e"} xref: Orphanet:309803 {source="DOID:0110853", source="OMIM:600121", source="MONDO:equivalentTo"} xref: UMLS:C1838612 {source="OMIM:600121", source="Orphanet:309803", source="MONDO:equivalentTo", source="Orphanet:309803/e", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015776 {source="DC-OMIM:600121", source="DOID:0110853", source="MESH:C537608", source="MONDO:Redundant", source="OMIM:600121", source="Orphanet:309803"} ! rhizomelic chondrodysplasia punctata is_a: MONDO:0100274 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! alkylglycerone-phosphate synthase deficiency property_value: exactMatch DOID:0110853 property_value: exactMatch http://identifiers.org/mesh/C537608 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838612 property_value: exactMatch https://omim.org/entry/600121 property_value: exactMatch Orphanet:309803 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9682/rhizomelic-chondrodysplasia-punctata-type-3 xsd:anyURI {source="GARD:0009682"} [Term] id: MONDO:0010824 name: disorder of sex development-intellectual disability syndrome def: "A rare syndrome with 46,XY disorder of sex development characterized by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. No new cases have been reported since 1994." [Orphanet:2983] subset: ordo_disease {source="Orphanet:2983"} synonym: "disorder of sex development intellectual disability" RELATED [GARD:0004550] synonym: "Male pseudohermaphroditism intellectual disability syndrome, Verloes type" RELATED [GARD:0004550] synonym: "male pseudohermaphroditism/intellectual disability syndrome, Verloes type" RELATED [OMIM:600122] synonym: "male pseudohermaphroditism/mental retardation syndrome, Verloes type" RELATED DEPRECATED [OMIM:600122] synonym: "pseudohermaphroditism-intellectual disability syndrome" EXACT [Orphanet:2983] synonym: "Verloes Gillerot Fryns syndrome" RELATED [GARD:0004550] synonym: "Verloes syndrome" RELATED [OMIM:600122] synonym: "Verloes-Gillerot-Fryns syndrome" EXACT [Orphanet:2983] xref: MESH:C535693 {source="MONDO:equivalentTo"} xref: OMIM:600122 {source="Orphanet:2983", source="MONDO:equivalentTo", source="Orphanet:2983/e"} xref: Orphanet:2983 {source="OMIM:600122", source="MONDO:equivalentTo"} xref: SCTID:719450007 {source="MONDO:equivalentTo"} is_a: MONDO:0020040 ! 46,XY disorder of sex development relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: exactMatch http://identifiers.org/mesh/C535693 property_value: exactMatch http://identifiers.org/snomedct/719450007 property_value: exactMatch https://omim.org/entry/600122 property_value: exactMatch Orphanet:2983 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:2983"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010825 name: atrioventricular defect-blepharophimosis-radial and anal defect syndrome def: "Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects." [Orphanet:1352] subset: ordo_malformation_syndrome {source="Orphanet:1352"} synonym: "atrioventricular septal defect with blepharophimosis and anal and radial defects" RELATED [OMIM:600123] synonym: "Houlston-Ironton-Temple syndrome" EXACT [Orphanet:1352] xref: MESH:C563994 {source="MONDO:equivalentTo"} xref: OMIM:600123 {source="Orphanet:1352", source="MONDO:equivalentTo", source="Orphanet:1352/e"} xref: Orphanet:1352 {source="OMIM:600123", source="MONDO:equivalentTo"} xref: UMLS:C1838606 {source="Orphanet:1352", source="OMIM:600123", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0003777 {source="MONDO:0015506-obsoleted"} ! heart disease is_a: MONDO:0015161 {source="Orphanet:1352"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0020158 {source="MONDO:0020169-obsoleted"} ! eyelids malposition disorder property_value: exactMatch http://identifiers.org/mesh/C563994 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838606 property_value: exactMatch https://omim.org/entry/600123 property_value: exactMatch Orphanet:1352 [Term] id: MONDO:0010826 name: childhood absence epilepsy def: "Childhood absence epilepsy (CAE) is a familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis." [Orphanet:64280] subset: ordo_disease {source="Orphanet:64280"} subset: predisposition synonym: "absence seizure" RELATED [DOID:1825] synonym: "petit mal seizure" RELATED [DOID:1825] synonym: "pyknolepsy" EXACT [DOID:1825, Orphanet:64280] xref: DOID:1825 {source="MONDO:equivalentTo"} xref: OMIMPS:600131 {source="MONDO:equivalentTo"} xref: Orphanet:64280 {source="OMIM:600131", source="MONDO:equivalentTo"} xref: SCTID:230413002 {source="MONDO:relatedTo", source="DOID:1825"} xref: SCTID:50866000 {source="MONDO:equivalentTo", source="DOID:1825"} is_a: MONDO:0000414 {source="DOID:1825"} ! childhood electroclinical syndrome is_a: MONDO:0015653 ! monogenic epilepsy is_a: MONDO:0020072 {source="Orphanet:64280/inferred", source="https://orcid.org/0000-0001-8486-0558"} ! childhood-onset epilepsy syndrome is_a: MONDO:0850093 {source="DOID:0070309"} ! absence epilepsy property_value: exactMatch DOID:1825 property_value: exactMatch http://identifiers.org/snomedct/50866000 property_value: exactMatch https://omim.org/phenotypicSeries/PS600131 property_value: exactMatch Orphanet:64280 [Term] id: MONDO:0010829 name: CARASIL syndrome def: "CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia." [Orphanet:199354] subset: ordo_disease {source="Orphanet:199354"} synonym: "CARASIL" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600142] synonym: "cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy" RELATED [MONDO:Lexical, OMIM:600142] synonym: "cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy" EXACT [Orphanet:199354] synonym: "cerebrovascular disease with thin skin, alopecia, and disc disease" RELATED OMO:0003005 [] synonym: "cerebrovascular disease with thin skin, alopecia, and disk disease" RELATED [OMIM:600142] synonym: "Maeda syndrome" EXACT [OMIM:600142, Orphanet:199354] synonym: "subcortical vascular encephalopathy, progressive" RELATED [OMIM:600142] xref: MESH:C563990 {source="MONDO:equivalentTo"} xref: OMIM:600142 {source="Orphanet:199354", source="MONDO:equivalentTo", source="Orphanet:199354/e"} xref: Orphanet:199354 {source="OMIM:600142", source="MONDO:equivalentTo"} xref: SCTID:703219008 {source="MONDO:equivalentTo"} xref: UMLS:C1838577 {source="OMIM:600142", source="Orphanet:199354", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0014768 ! cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 is_a: MONDO:0018831 {source="Orphanet:199354"} ! HTRA1-related cerebral small vessel disease property_value: exactMatch http://identifiers.org/mesh/C563990 property_value: exactMatch http://identifiers.org/snomedct/703219008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838577 property_value: exactMatch https://omim.org/entry/600142 property_value: exactMatch Orphanet:199354 [Term] id: MONDO:0010830 name: neuronal ceroid lipofuscinosis 8 def: "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN8 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_etiological_subtype {source="Orphanet:228354"} synonym: "ceroid lipofuscinosis, neuronal, 8" RELATED [MONDO:Lexical, OMIM:600143] synonym: "ceroid lipofuscinosis, neuronal, type 8" EXACT [MONDORULE:1, OMIM:600143] synonym: "CLN8" EXACT ABBREVIATION [DOID:0110723, MONDO:Lexical, OMIM:600143] synonym: "CLN8 disease" RELATED [Orphanet:228354] synonym: "CLN8 neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "neuronal ceroid lipofuscinosis 8" EXACT [] synonym: "neuronal ceroid lipofuscinosis caused by mutation in CLN8" EXACT [MONDO:design_pattern] synonym: "neuronal ceroid lipofuscinosis type 8" EXACT [DOID:0110723, MONDORULE:1] xref: DOID:0110723 {source="MONDO:equivalentTo"} xref: MESH:C537952 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: OMIM:600143 {source="DOID:0110723", source="Orphanet:228354/e", source="MONDO:equivalentTo", source="Orphanet:228354"} xref: Orphanet:228354 {source="OMIM:600143", source="DOID:0110723", source="MONDO:equivalentTo"} xref: SCTID:703526007 {source="MONDO:equivalentTo"} is_a: MONDO:0015674 {source="Orphanet:168491/btnt", source="Orphanet:228354"} ! late infantile neuronal ceroid lipofuscinosis is_a: MONDO:0019262 {source="Orphanet:228354", source="Orphanet:79264/btnt"} ! juvenile neuronal ceroid lipofuscinosis property_value: exactMatch DOID:0110723 property_value: exactMatch http://identifiers.org/mesh/C537952 property_value: exactMatch http://identifiers.org/snomedct/703526007 property_value: exactMatch https://omim.org/entry/600143 property_value: exactMatch Orphanet:228354 [Term] id: MONDO:0010831 name: familial caudal dysgenesis def: "Familial caudal dysgenesis is a rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies." [Orphanet:1768] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1768"} synonym: "caudal dysgenesis familial type" RELATED [GARD:0000215] synonym: "caudal dysgenesis syndrome" RELATED [GARD:0004751, OMIM:600145] synonym: "caudal regression" EXACT [NCIT:C99054] synonym: "caudal regression syndrome" RELATED [OMIM:600145] synonym: "familial caudal dysgenesis" EXACT [GARD:0004751] synonym: "Rudd-Klimek syndrome" EXACT [GARD:0000215, GARD:0004751, Orphanet:1768] synonym: "sacral agenesis" RELATED [OMIM:600145] synonym: "sacral defect with anterior meningocele" RELATED [OMIM:600145] synonym: "SDAM" RELATED ABBREVIATION [GARD:0004751] synonym: "Sdam" RELATED [OMIM:600145] synonym: "sirenomelia" RELATED [OMIM:600145] xref: NCIT:C99054 {source="MONDO:equivalentTo"} xref: OMIM:600145 {source="GARD:0004751", source="MONDO:equivalentTo"} xref: Orphanet:1768 {source="GARD:0004751", source="OMIM:600145", source="GARD:0000215", source="MONDO:equivalentTo"} xref: SCTID:722493007 {source="MONDO:equivalentTo"} is_a: MONDO:0018639 {source="Orphanet:1768"} ! caudal regression-sirenomelia spectrum property_value: exactMatch http://identifiers.org/snomedct/722493007 property_value: exactMatch https://omim.org/entry/600145 property_value: exactMatch NCIT:C99054 property_value: exactMatch Orphanet:1768 [Term] id: MONDO:0010835 name: pterygium colli-intellectual disability-digital anomalies syndrome def: "Pterygium colli-intellectual disability-digital anomalies syndrome is characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant." [Orphanet:2988] subset: ordo_malformation_syndrome {source="Orphanet:2988"} synonym: "khalifa-Graham syndrome" EXACT [Orphanet:2988] synonym: "pterygium colli and intellectual disability with facial and digital anomalies" RELATED [OMIM:600159] synonym: "pterygium colli and mental retardation with facial and digital anomalies" RELATED DEPRECATED [OMIM:600159] synonym: "pterygium colli intellectual disability digital anomalies" RELATED [GARD:0004568] synonym: "pterygium colli mental retardation digital anomalies" RELATED DEPRECATED [GARD:0004568] xref: MESH:C535831 {source="MONDO:equivalentTo"} xref: OMIM:600159 {source="MONDO:equivalentTo", source="Orphanet:2988", source="Orphanet:2988/e"} xref: Orphanet:2988 {source="MONDO:equivalentTo", source="OMIM:600159"} xref: SCTID:719256004 {source="MONDO:equivalentTo"} xref: UMLS:C1838562 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:600159", source="Orphanet:2988", source="Orphanet:2988/e"} is_a: MONDO:0015159 {source="Orphanet:2988"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C535831 property_value: exactMatch http://identifiers.org/snomedct/719256004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838562 property_value: exactMatch https://omim.org/entry/600159 property_value: exactMatch Orphanet:2988 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2988"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010839 name: autosomal dominant congenital benign spinal muscular atrophy def: "Autosomal dominant congenital benign spinal muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated." [Orphanet:1216] subset: ordo_disease {source="Orphanet:1216"} synonym: "autosomal dominant benign distal spinal muscular atrophy" EXACT [Orphanet:1216] synonym: "congenital benign spinal muscular atrophy with contractures" EXACT [Orphanet:1216] synonym: "congenital nonprogressive spinal muscular atrophy" EXACT [Orphanet:1216] synonym: "HMN8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600175] synonym: "neuronopathy, distal hereditary motor, type 8" RELATED [OMIM:600175] synonym: "neuronopathy, distal hereditary motor, type VIII" RELATED [MONDO:Lexical, OMIM:600175] synonym: "neuropathy, distal hereditary motor, type 8" RELATED [OMIM:600175] synonym: "spinal muscular atrophy, congenital benign, with contractures" RELATED [OMIM:600175] synonym: "spinal muscular atrophy, distal, congenital nonprogressive" RELATED [OMIM:600175] xref: DOID:0111215 {source="MONDO:equivalentTo"} xref: MESH:C563981 {source="MONDO:equivalentTo"} xref: OMIM:600175 {source="MONDO:equivalentTo", source="Orphanet:1216", source="Orphanet:1216/e"} xref: Orphanet:1216 {source="OMIM:600175", source="MONDO:equivalentTo"} xref: SCTID:763067000 {source="MONDO:equivalentTo"} xref: UMLS:C1838492 {source="OMIM:600175", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015362 {source="Orphanet:1216"} ! autosomal dominant distal hereditary motor neuropathy property_value: exactMatch DOID:0111215 property_value: exactMatch http://identifiers.org/mesh/C563981 property_value: exactMatch http://identifiers.org/snomedct/763067000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838492 property_value: exactMatch https://omim.org/entry/600175 property_value: exactMatch Orphanet:1216 [Term] id: MONDO:0010840 name: pachygyria-intellectual disability-epilepsy syndrome def: "A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated." [Orphanet:2798] subset: ordo_malformation_syndrome {source="Orphanet:2798"} synonym: "Kuzniecky syndrome" EXACT [Orphanet:2798] synonym: "pachygyria with intellectual disability and seizures" RELATED [OMIM:600176] synonym: "pachygyria with intellectual disability, seizures, and arachnoid cysts" RELATED [OMIM:600176] synonym: "pachygyria with mental retardation and seizures" RELATED DEPRECATED [OMIM:600176] synonym: "pachygyria with mental retardation, seizures, and arachnoid cysts" RELATED DEPRECATED [OMIM:600176] synonym: "pachygyria, intellectual disability and epilepsy" RELATED [GARD:0000409] synonym: "pachygyria, mental retardation and epilepsy" RELATED DEPRECATED [GARD:0000409] xref: MESH:C538091 {source="MONDO:equivalentTo"} xref: OMIM:600176 {source="MONDO:equivalentTo", source="Orphanet:2798", source="Orphanet:2798/e"} xref: Orphanet:2798 {source="OMIM:600176", source="MONDO:equivalentTo"} xref: SCTID:763861000 {source="MONDO:equivalentTo"} xref: UMLS:C1838491 {source="OMIM:600176", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2798", source="Orphanet:2798/e"} is_a: EFO:0000618 {source="https://orcid.org/0000-0001-5208-3432"} ! nervous system disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: exactMatch http://identifiers.org/mesh/C538091 property_value: exactMatch http://identifiers.org/snomedct/763861000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838491 property_value: exactMatch https://omim.org/entry/600176 property_value: exactMatch Orphanet:2798 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:2798"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010842 name: multiple cutaneous and mucosal venous malformations def: "Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa." [Orphanet:2451] subset: ordo_malformation_syndrome {source="Orphanet:2451"} synonym: "cutaneous and mucosal venous malformation" EXACT [Orphanet:2451] synonym: "mucocutaneous venous malformations" RELATED [Orphanet:2451] synonym: "VENOUS malformations, multiple cutaneous and mucosal" RELATED [MONDO:Lexical, OMIM:600195] synonym: "VMCM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600195, Orphanet:2451] synonym: "Vmcm1" RELATED [OMIM:600195] xref: DOID:0050792 {source="MONDO:equivalentTo"} xref: MESH:C563977 {source="MONDO:equivalentTo"} xref: OMIM:600195 {source="DOID:0050792", source="Orphanet:2451", source="MONDO:equivalentTo", source="Orphanet:2451/e"} xref: Orphanet:2451 {source="MONDO:equivalentTo", source="OMIM:600195"} xref: SCTID:699301008 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 {source="DOID:0050792", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0016229 {source="MONDO:0018730-obsoleted"} ! hereditary vascular anomaly is_a: MONDO:0016230 {source="MONDO:0016232-obsoleted"} ! simple vascular malformation property_value: exactMatch DOID:0050792 property_value: exactMatch http://identifiers.org/mesh/C563977 property_value: exactMatch http://identifiers.org/snomedct/699301008 property_value: exactMatch https://omim.org/entry/600195 property_value: exactMatch Orphanet:2451 [Term] id: MONDO:0010847 name: spinocerebellar ataxia type 4 def: "Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by ataxia with sensory neuropathy." [Orphanet:98765] subset: ordo_disease {source="Orphanet:98765"} synonym: "SCA4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600223, Orphanet:98765] synonym: "spinocerebellar ataxia 4" RELATED [MONDO:Lexical, OMIM:600223] synonym: "spinocerebellar ataxia autosomal dominant with sensory axonal neuropathy" RELATED [GARD:0009970] synonym: "spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy" RELATED [OMIM:600223] xref: DOID:0050957 {source="MONDO:equivalentTo"} xref: OMIM:600223 {source="Orphanet:98765", source="MONDO:equivalentTo", source="Orphanet:98765/e"} xref: Orphanet:98765 {source="OMIM:600223", source="MONDO:equivalentTo"} xref: SCTID:715755008 {source="MONDO:equivalentTo"} xref: UMLS:C0752122 {source="Orphanet:98765", source="OMIM:600223", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:98765/e"} is_a: MONDO:0019792 {source="Orphanet:98765"} ! autosomal dominant cerebellar ataxia type I property_value: exactMatch DOID:0050957 property_value: exactMatch http://identifiers.org/snomedct/715755008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0752122 property_value: exactMatch https://omim.org/entry/600223 property_value: exactMatch Orphanet:98765 [Term] id: MONDO:0010848 name: spinocerebellar ataxia type 5 def: "Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression." [Orphanet:98766] subset: ordo_disease {source="Orphanet:98766"} synonym: "SCA5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600224, Orphanet:98766] synonym: "spinocerebellar ataxia 5" RELATED [MONDO:Lexical, OMIM:600224] synonym: "spinocerebellar ataxia type 5" EXACT [MONDORULE:1, OMIM:600224] xref: DOID:0050882 {source="MONDO:equivalentTo"} xref: OMIM:600224 {source="DOID:0050882", source="Orphanet:98766", source="MONDO:equivalentTo", source="Orphanet:98766/e"} xref: Orphanet:98766 {source="OMIM:600224", source="MONDO:equivalentTo"} xref: SCTID:719302009 {source="MONDO:equivalentTo"} xref: UMLS:C0752123 {source="OMIM:600224", source="Orphanet:98766", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019793 {source="Orphanet:98766"} ! autosomal dominant cerebellar ataxia type III property_value: exactMatch DOID:0050882 property_value: exactMatch http://identifiers.org/snomedct/719302009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0752123 property_value: exactMatch https://omim.org/entry/600224 property_value: exactMatch Orphanet:98766 [Term] id: MONDO:0010850 name: Tessier number 4 facial cleft subset: ordo_morphological_anomaly {source="Orphanet:141258"} synonym: "facial clefting, oblique, 1" RELATED [MONDO:Lexical, OMIM:600251] synonym: "facial clefting, oblique, type 1" EXACT [MONDORULE:1, OMIM:600251] synonym: "OBLFC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600251] synonym: "oculomaxillofacial dysplasia with oblique Facial clefts" RELATED [OMIM:600251] xref: DOID:0111706 {source="MONDO:equivalentTo"} xref: OMIM:600251 {source="MONDO:equivalentTo", source="Orphanet:141258", source="Orphanet:141258/e"} xref: Orphanet:141258 {source="MONDO:equivalentTo", source="OMIM:600251"} is_a: MONDO:0015415 {source="Orphanet:141258"} ! oblique facial cleft is_a: MONDO:0015824 ! oculomaxillofacial dysostosis property_value: exactMatch DOID:0111706 property_value: exactMatch https://omim.org/entry/600251 property_value: exactMatch Orphanet:141258 [Term] id: MONDO:0010851 name: Lowry-MacLean syndrome def: "Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." [Orphanet:2409] subset: ordo_malformation_syndrome {source="Orphanet:2409"} synonym: "intellectual disability, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure" RELATED [GARD:0003300] synonym: "Lowry MacLean syndrome" RELATED [GARD:0003300] synonym: "Lowry-MacLean syndrome" EXACT [OMIM:600252] synonym: "mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure" RELATED DEPRECATED [GARD:0003300] xref: MESH:C537037 {source="Orphanet:2409/e", source="MONDO:equivalentTo", source="Orphanet:2409"} xref: OMIM:600252 {source="Orphanet:2409/e", source="MONDO:equivalentTo", source="Orphanet:2409"} xref: Orphanet:2409 {source="OMIM:600252", source="MONDO:equivalentTo"} xref: SCTID:721974000 {source="MONDO:equivalentTo"} xref: UMLS:C0796020 {source="OMIM:600252", source="Orphanet:2409/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2409"} is_a: EFO:0003966 {source="MONDO:0020222-obsoleted"} ! eye disease is_a: MONDO:0015159 {source="Orphanet:2409"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015338 {source="Orphanet:2409"} ! syndromic craniosynostosis property_value: exactMatch http://identifiers.org/mesh/C537037 property_value: exactMatch http://identifiers.org/snomedct/721974000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796020 property_value: exactMatch https://omim.org/entry/600252 property_value: exactMatch Orphanet:2409 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2409"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010854 name: Toriello-Lacassie-Droste syndrome def: "Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital." [Orphanet:3339] subset: ordo_malformation_syndrome {source="Orphanet:3339"} synonym: "aplasia cutis congenita with epibulbar dermoids" RELATED [OMIM:600268] synonym: "aplasia cutis congenita-epibulbar dermoids syndrome" EXACT [Orphanet:3339] synonym: "oculo-ectodermal syndrome" RELATED [GARD:0010366] synonym: "oculoectodermal syndrome" EXACT [MONDO:Lexical, OMIM:600268, Orphanet:3339] synonym: "oculoectodermal syndrome, somatic" EXACT [OMIM:600268, OMIM:genemap2] synonym: "oes" RELATED [MONDO:Lexical, OMIM:600268] synonym: "Toriello Lacassie Droste syndrome" RELATED [GARD:0010366] xref: DOID:0111705 {source="MONDO:equivalentTo"} xref: MESH:C563969 {source="MONDO:equivalentTo"} xref: OMIM:600268 {source="MONDO:equivalentTo", source="Orphanet:3339", source="Orphanet:3339/e"} xref: Orphanet:3339 {source="OMIM:600268", source="MONDO:equivalentTo"} xref: SCTID:723554006 {source="MONDO:equivalentTo"} xref: UMLS:C1838329 {source="OMIM:600268", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3339"} is_a: MONDO:0019287 {source="MESH:C563969", source="Orphanet:3339"} ! ectodermal dysplasia syndrome property_value: exactMatch DOID:0111705 property_value: exactMatch http://identifiers.org/mesh/C563969 property_value: exactMatch http://identifiers.org/snomedct/723554006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838329 property_value: exactMatch https://omim.org/entry/600268 property_value: exactMatch Orphanet:3339 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010855 name: short tarsus-absence of lower eyelashes syndrome def: "Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes." [Orphanet:2832] subset: ordo_malformation_syndrome {source="Orphanet:2832"} synonym: "Lopes Gorlin syndrome" RELATED [GARD:0000296] synonym: "Lopes-Gorlin syndrome" EXACT [Orphanet:2832] synonym: "short tarsus absence of lower eyelashes" RELATED [GARD:0000296] synonym: "short tarsus with absence of LOWER eyelashes" RELATED [MONDO:Lexical, OMIM:600269] synonym: "stale" RELATED [MONDO:Lexical, OMIM:600269] xref: MESH:C537036 {source="MONDO:equivalentTo"} xref: OMIM:600269 {source="MONDO:equivalentTo", source="Orphanet:2832", source="Orphanet:2832/e"} xref: Orphanet:2832 {source="MONDO:equivalentTo", source="OMIM:600269"} xref: SCTID:721075001 {source="MONDO:equivalentTo"} xref: UMLS:C1838328 {source="MONDO:equivalentTo", source="Orphanet:2832", source="MONDO:ncbi_mim2gene_medline", source="OMIM:600269"} is_a: MONDO:0015161 {source="Orphanet:2832"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C537036 property_value: exactMatch http://identifiers.org/snomedct/721075001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838328 property_value: exactMatch https://omim.org/entry/600269 property_value: exactMatch Orphanet:2832 [Term] id: MONDO:0010856 name: autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis def: "Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system)." [Orphanet:88924] subset: ordo_disease {source="Orphanet:88924"} synonym: "chromosome 16P13.3 deletion syndrome, distal" RELATED [OMIM:600273] synonym: "PKDTS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600273] synonym: "polycystic kidney disease, infantile severe, with tuberous sclerosis" RELATED [MONDO:Lexical, OMIM:600273] synonym: "polycystic kidneys, severe infantile with tuberous sclerosis" RELATED [GARD:0009481] synonym: "tuberous sclerosis polycystic kidney disease contiguous gene syndrome" RELATED [GARD:0009481] synonym: "tuberous sclerosis/polycystic kidney disease contiguous gene syndrome" EXACT [Orphanet:88924] xref: MESH:C536328 {source="MONDO:equivalentTo"} xref: OMIM:600273 {source="MONDO:equivalentTo", source="Orphanet:88924", source="Orphanet:88924/e"} xref: Orphanet:88924 {source="MONDO:equivalentTo", source="OMIM:600273"} xref: SCTID:765331004 {source="MONDO:equivalentTo"} xref: UMLS:C1838327 {source="MONDO:equivalentTo", source="Orphanet:88924", source="MONDO:ncbi_mim2gene_medline", source="OMIM:600273"} is_a: MONDO:0016894 {source="Orphanet:88924", source="https://orcid.org/0000-0001-5208-3432"} ! partial deletion of the short arm of chromosome 16 is_a: MONDO:0019741 {source="Orphanet:88924", source="Orphanet:88924/inferred"} ! familial cystic renal disease property_value: exactMatch http://identifiers.org/mesh/C536328 property_value: exactMatch http://identifiers.org/snomedct/765331004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838327 property_value: exactMatch https://omim.org/entry/600273 property_value: exactMatch Orphanet:88924 [Term] id: MONDO:0010857 name: semantic dementia def: "Semantic dementia (SD) is a form of frontotemporal dementia (FTD), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes." [Orphanet:100069] subset: ordo_disease {source="Orphanet:100069"} synonym: "dementia, frontotemporal" EXACT [OMIM:600274, OMIM:genemap2] synonym: "dementia, frontotemporal, with or without parkinsonism" EXACT [OMIM:600274, OMIM:genemap2] synonym: "dementia, frontotemporal, with Parkinsonism" RELATED [OMIM:600274] synonym: "disinhibition-dementia-Parkinsonism-amyotrophy Complex" RELATED [OMIM:600274] synonym: "frontotemporal dementia" RELATED [MONDO:Lexical, OMIM:600274] synonym: "frontotemporal dementia with Parkinsonism" RELATED [OMIM:600274] synonym: "frontotemporal lobar Degeneration with Tau inclusions" RELATED [OMIM:600274] synonym: "frontotemporal lobe dementia" RELATED [OMIM:600274] synonym: "FTD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600274] synonym: "Ftdp17" RELATED [OMIM:600274] synonym: "Ftld with Tau inclusions" RELATED [OMIM:600274] synonym: "multiple system tauopathy with presenile dementia" RELATED [OMIM:600274] synonym: "Pallidopontonigral Degeneration" RELATED [OMIM:600274] synonym: "Pick Complex" RELATED [OMIM:600274] synonym: "semantic primary progressive aphasia" EXACT [Orphanet:100069] synonym: "semantic variant PPA" EXACT [Orphanet:100069] synonym: "Wilhelmsen-Lynch disease" RELATED [OMIM:600274] xref: OMIM:600274 {source="Orphanet:100069", source="MONDO:equivalentTo"} xref: Orphanet:100069 {source="MONDO:equivalentTo"} xref: UMLS:C1862937 {source="OMIM:600274", source="MONDO:relatedTo"} is_a: MONDO:0015059 ! progressive non-fluent aphasia is_a: MONDO:0017160 ! behavioral variant of frontotemporal dementia property_value: exactMatch https://omim.org/entry/600274 property_value: exactMatch Orphanet:100069 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: relatedMatch http://linkedlifedata.com/resource/umls/id/C1862937 [Term] id: MONDO:0010858 name: macrocephaly-spastic paraplegia-dysmorphism syndrome def: "Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive." [Orphanet:2429] subset: ordo_malformation_syndrome {source="Orphanet:2429"} synonym: "Fryns macrocephaly" EXACT [OMIM:600302, Orphanet:2429] synonym: "macrocephaly with spastic paraplegia and distinctive craniofacial appearance" RELATED [OMIM:600302] xref: MESH:C563963 {source="MONDO:equivalentTo"} xref: OMIM:600302 {source="Orphanet:2429/e", source="MONDO:equivalentTo", source="Orphanet:2429"} xref: Orphanet:2429 {source="MONDO:equivalentTo", source="OMIM:600302"} xref: SCTID:716108004 {source="MONDO:equivalentTo"} xref: UMLS:C1838281 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:600302", source="Orphanet:2429"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:2429"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0017915 {source="Orphanet:2429"} ! pure or complex autosomal recessive spastic paraplegia property_value: exactMatch http://identifiers.org/mesh/C563963 property_value: exactMatch http://identifiers.org/snomedct/716108004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838281 property_value: exactMatch https://omim.org/entry/600302 property_value: exactMatch Orphanet:2429 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2429"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010865 name: pseudoaminopterin syndrome def: "Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature." [Orphanet:221120] subset: gard_rare {source="GARD:0004544"} subset: ordo_malformation_syndrome {source="Orphanet:221120"} synonym: "aminopterin syndrome sine aminopterin" RELATED [GARD:0004544, MONDO:Lexical, OMIM:600325] synonym: "aminopterin syndrome-like sine aminopterin" EXACT [Orphanet:221120] synonym: "ASSA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600325, Orphanet:221120] synonym: "pseudoaminopterin syndrome" EXACT [OMIM:600325] xref: ICD10CM:Q82.0 {source="Orphanet:221120", source="MONDO:relatedTo", source="Orphanet:221120/attributed", source="Orphanet:221120/ntbt"} xref: MESH:C535823 {source="MONDO:equivalentTo"} xref: OMIM:600325 {source="Orphanet:221120", source="MONDO:equivalentTo", source="Orphanet:221120/e"} xref: Orphanet:221120 {source="MONDO:equivalentTo", source="OMIM:600325"} xref: SCTID:715867000 {source="MONDO:equivalentTo"} xref: UMLS:C0795939 {source="Orphanet:221120", source="MONDO:equivalentTo", source="OMIM:600325", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015159 {source="Orphanet:221120"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015338 {source="Orphanet:221120"} ! syndromic craniosynostosis property_value: exactMatch http://identifiers.org/mesh/C535823 property_value: exactMatch http://identifiers.org/snomedct/715867000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795939 property_value: exactMatch https://omim.org/entry/600325 property_value: exactMatch Orphanet:221120 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:221120"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4544/pseudoaminopterin-syndrome xsd:anyURI {source="GARD:0004544"} [Term] id: MONDO:0010866 name: infantile osteopetrosis with neuroaxonal dysplasia def: "This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus." [Orphanet:85179] subset: ordo_malformation_syndrome {source="Orphanet:85179"} synonym: "osteopetrosis and infantile neuroaxonal dystrophy" RELATED [OMIM:600329] xref: DOID:0070343 {source="MONDO:equivalentTo"} xref: MESH:C536055 {source="MONDO:equivalentTo"} xref: OMIM:600329 {source="Orphanet:85179", source="MONDO:equivalentTo", source="Orphanet:85179/e"} xref: Orphanet:85179 {source="MONDO:equivalentTo", source="OMIM:600329"} xref: SCTID:724226009 {source="MONDO:equivalentTo"} xref: UMLS:C1838258 {source="Orphanet:85179", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:600329"} is_a: MONDO:0017198 {source="Orphanet:85179"} ! osteopetrosis property_value: exactMatch DOID:0070343 property_value: exactMatch http://identifiers.org/mesh/C536055 property_value: exactMatch http://identifiers.org/snomedct/724226009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838258 property_value: exactMatch https://omim.org/entry/600329 property_value: exactMatch Orphanet:85179 [Term] id: MONDO:0010867 name: PARC syndrome def: "PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990." [Orphanet:2825] subset: gard_rare {source="GARD:0004223"} subset: ordo_malformation_syndrome {source="Orphanet:2825"} synonym: "PARC syndrome" EXACT [OMIM:600331] synonym: "poikiloderma, alopecia, retrognathism, and cleft palate" RELATED [OMIM:600331] synonym: "poikiloderma-alopecia-retrognathism-cleft palate syndrome" EXACT [Orphanet:2825] xref: MESH:C537174 {source="Orphanet:2825/e", source="MONDO:equivalentTo", source="Orphanet:2825"} xref: OMIM:600331 {source="Orphanet:2825/e", source="MONDO:equivalentTo", source="Orphanet:2825"} xref: Orphanet:2825 {source="OMIM:600331", source="MONDO:equivalentTo"} xref: UMLS:C1838256 {source="Orphanet:2825/e", source="OMIM:600331", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2825"} is_a: MONDO:0015161 {source="Orphanet:2825"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability property_value: exactMatch http://identifiers.org/mesh/C537174 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838256 property_value: exactMatch https://omim.org/entry/600331 property_value: exactMatch Orphanet:2825 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4223/parc-syndrome xsd:anyURI {source="GARD:0004223"} [Term] id: MONDO:0010870 name: tibial muscular dystrophy def: "A distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life." [https://orcid.org/0000-0001-5208-3432, Orphanet:609] subset: ordo_disease {source="Orphanet:609"} synonym: "distal myopathy, Udd type" EXACT [Orphanet:609] synonym: "distal titinopathy" EXACT [DOID:0111078, Orphanet:609] synonym: "Finnish tibial muscular dystrophy" EXACT [DOID:0111078, Orphanet:609] synonym: "tardive tibial muscular dystrophy" EXACT [DOID:0111078, OMIM:600334] synonym: "tibial muscular dystrophy, tardive" RELATED [OMIM:600334] synonym: "TMD" EXACT ABBREVIATION [DOID:0111078, Orphanet:609] synonym: "Tmd" RELATED [OMIM:600334] synonym: "Udd myopathy" EXACT [DOID:0111078, Orphanet:609] synonym: "Udd type distal myopathy" EXACT [DOID:0111078] xref: DOID:0111078 {source="MONDO:equivalentTo"} xref: OMIM:600334 {source="Orphanet:609/e", source="MONDO:equivalentTo", source="DOID:0111078", source="Orphanet:609"} xref: Orphanet:609 {source="OMIM:600334", source="MONDO:equivalentTo", source="DOID:0111078"} xref: SCTID:698846009 {source="MONDO:equivalentTo"} xref: UMLS:C1450052 {source="MONDO:equivalentTo", source="Orphanet:609"} xref: UMLS:C1838244 {source="Orphanet:609/e", source="OMIM:600334", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:0111078", source="Orphanet:609"} is_a: MONDO:0016108 {source="Orphanet:609"} ! autosomal dominant distal myopathy is_a: MONDO:0100494 {source="https://clinicalgenome.org/affiliation/40031/"} ! autosomal dominant titinopathy property_value: exactMatch DOID:0111078 property_value: exactMatch http://identifiers.org/snomedct/698846009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1450052 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838244 property_value: exactMatch https://omim.org/entry/600334 property_value: exactMatch Orphanet:609 [Term] id: MONDO:0010876 name: recessive aplasia cutis congenita of limbs def: "Recessive aplasia cutis congenita of limbs is an extremely rare variant of aplasia cutis congenita (ACC) characterized by the congenital absence of skin on the upper and/or lower limbs, with these lesions usually healing spontaneously resulting in a hypotrichotic scar. Recessive ACC of limbs may be associated with junctional epidermolysis bullosa. The inheritance was hypothesized to be autosomal recessive. There have been no further descriptions in the literature since 1980." [Orphanet:1115] subset: gard_rare {source="GARD:0000754"} subset: ordo_disease {source="Orphanet:1115"} synonym: "aplasia cutis congenita of limbs recessive" RELATED [GARD:0000754] synonym: "aplasia cutis congenita of limbs, autosomal recessive" RELATED [OMIM:600360] synonym: "congenital absence of skin on the upper or lower limbs" RELATED [GARD:0000754] synonym: "recessive aplasia cutis congenita of the limbs" RELATED [GARD:0000754] xref: MESH:C536840 {source="MONDO:equivalentTo", source="Orphanet:1115", source="Orphanet:1115/e"} xref: OMIM:600360 {source="MONDO:equivalentTo", source="Orphanet:1115", source="Orphanet:1115/e"} xref: Orphanet:1115 {source="MONDO:equivalentObsolete", source="OMIM:600360"} xref: SCTID:723500009 {source="MONDO:equivalentTo"} xref: UMLS:C1838206 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1115", source="Orphanet:1115/e"} is_a: MONDO:0019294 {source="Orphanet:1115"} ! mixed dermis disorder property_value: exactMatch http://identifiers.org/mesh/C536840 property_value: exactMatch http://identifiers.org/snomedct/723500009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838206 property_value: exactMatch https://omim.org/entry/600360 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/754/aplasia-cutis-congenita-of-limbs-recessive xsd:anyURI {source="GARD:0000754"} [Term] id: MONDO:0010877 name: Charcot-Marie-Tooth disease type 5 def: "Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity." [Orphanet:64751] subset: ordo_disease {source="Orphanet:64751"} synonym: "Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant" RELATED [OMIM:600361] synonym: "Charcot-Marie-Tooth disease-pyramidal features syndrome" EXACT [Orphanet:64751] synonym: "Charcot-Marie-Tooth neuropathy with pyramidal features, autosomal dominant" RELATED [OMIM:600361] synonym: "CMT with pyramidal features" RELATED [OMIM:600361] synonym: "hereditary motor and sensory neuropathy 5" RELATED [GARD:0009208, OMIM:600361] synonym: "hereditary motor and sensory neuropathy type 5" EXACT [MONDORULE:1, OMIM:600361] synonym: "hereditary motor and sensory neuropathy V" RELATED [OMIM:600361] synonym: "hereditary motor and sensory neuropathy with pyramidal features" EXACT [DOID:0080067] synonym: "HMSN 5" EXACT [OMIM:600361, Orphanet:64751] synonym: "HMSN5" RELATED ABBREVIATION [OMIM:600361] synonym: "peroneal muscular atrophy with pyramidal features, autosomal dominant" RELATED [OMIM:600361] xref: DOID:0080067 {source="MONDO:equivalentTo"} xref: OMIM:600361 {source="Orphanet:64751", source="DOID:0080067", source="MONDO:equivalentTo", source="Orphanet:64751/e"} xref: Orphanet:64751 {source="MONDO:equivalentTo", source="OMIM:600361"} xref: SCTID:76043009 {source="MONDO:equivalentTo"} xref: UMLS:CN074211 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0002316 {source="DC-OMIM:600361"} ! motor peripheral neuropathy is_a: MONDO:0015360 {source="Orphanet:64751"} ! autosomal dominant hereditary axonal motor and sensory neuropathy is_a: MONDO:0019064 ! hereditary spastic paraplegia property_value: exactMatch DOID:0080067 property_value: exactMatch http://identifiers.org/snomedct/76043009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN074211 property_value: exactMatch https://omim.org/entry/600361 property_value: exactMatch Orphanet:64751 [Term] id: MONDO:0010878 name: hereditary spastic paraplegia 6 def: "Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment." [Orphanet:100988] subset: ordo_disease {source="Orphanet:100988"} synonym: "autosomal dominant familial spastic paraplegia type 3" EXACT [DOID:0110811, Orphanet:100988] synonym: "autosomal dominant spastic paraplegia 6" EXACT [DOID:0110811] synonym: "autosomal dominant spastic paraplegia type 6" EXACT [DOID:0110811] synonym: "familial spastic paraplegia autosomal dominant 3" RELATED [GARD:0004928] synonym: "familial spastic paraplegia, autosomal dominant, 3" RELATED [OMIM:600363] synonym: "FSP3" EXACT ABBREVIATION [DOID:0110811] synonym: "hereditary spastic paraplegia caused by mutation in NIPA1" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 6" EXACT [DOID:0110811, MONDORULE:1] synonym: "NIPA1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "spastic paraplegia 6" RELATED [GARD:0004928] synonym: "spastic paraplegia 6, autosomal dominant" RELATED [MONDO:Lexical, OMIM:600363] synonym: "SPG6" EXACT ABBREVIATION [DOID:0110811, MONDO:Lexical, OMIM:600363, Orphanet:100988] xref: DOID:0110811 {source="MONDO:equivalentTo"} xref: MESH:C536866 {source="Orphanet:100988/e", source="MONDO:equivalentTo", source="Orphanet:100988"} xref: OMIM:600363 {source="Orphanet:100988/e", source="DOID:0110811", source="MONDO:equivalentTo", source="Orphanet:100988"} xref: Orphanet:100988 {source="OMIM:600363", source="DOID:0110811", source="MONDO:equivalentTo"} xref: SCTID:732949006 {source="MONDO:equivalentTo"} xref: UMLS:C1838192 {source="OMIM:600363", source="Orphanet:100988/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:100988"} xref: UMLS:C4518537 {source="MONDO:equivalentTo"} is_a: MONDO:0017914 {source="Orphanet:100988"} ! pure or complex autosomal dominant spastic paraplegia property_value: exactMatch DOID:0110811 property_value: exactMatch http://identifiers.org/mesh/C536866 property_value: exactMatch http://identifiers.org/snomedct/732949006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838192 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518537 property_value: exactMatch https://omim.org/entry/600363 property_value: exactMatch Orphanet:100988 [Term] id: MONDO:0010879 name: CODAS syndrome def: "Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies." [Orphanet:1458] subset: gard_rare {source="GARD:0001418"} subset: ordo_malformation_syndrome {source="Orphanet:1458"} synonym: "cerebral, ocular, dental, auricular, and skeletal anomalies syndrome" RELATED [OMIM:600373] synonym: "cerebral, ocular, dental, auricular, and skeletal syndrome" RELATED [GARD:0001418] synonym: "cerebro-oculo-dento-auriculo-skeletal syndrome" RELATED [GARD:0001418] synonym: "cerebrooculodentoauriculoskeletal syndrome" EXACT [Orphanet:1458] synonym: "CODAS syndrome" EXACT [OMIM:600373] xref: DOID:0111274 {source="MONDO:equivalentTo"} xref: MESH:C536434 {source="MONDO:equivalentTo", source="Orphanet:1458", source="Orphanet:1458/e"} xref: NCIT:C126744 {source="MONDO:equivalentTo"} xref: OMIM:600373 {source="MONDO:equivalentTo", source="Orphanet:1458", source="Orphanet:1458/e"} xref: Orphanet:1458 {source="OMIM:600373", source="MONDO:equivalentTo"} xref: SCTID:717772000 {source="MONDO:equivalentTo"} xref: UMLS:C1838180 {source="OMIM:600373", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1458", source="NCIT:C126744", source="Orphanet:1458/e"} is_a: MONDO:0002254 {source="NCIT:C126744"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:1458"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0016761 {source="Orphanet:1458", source="PMID:31633310"} ! spondyloepiphyseal dysplasia property_value: exactMatch DOID:0111274 property_value: exactMatch http://identifiers.org/mesh/C536434 property_value: exactMatch http://identifiers.org/snomedct/717772000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838180 property_value: exactMatch https://omim.org/entry/600373 property_value: exactMatch NCIT:C126744 property_value: exactMatch Orphanet:1458 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1418/codas-syndrome xsd:anyURI {source="GARD:0001418"} [Term] id: MONDO:0010881 name: mesomelia-synostoses syndrome def: "A syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies." [https://orcid.org/0000-0001-5208-3432, Orphanet:2496] subset: gard_rare {source="GARD:0004302"} subset: ordo_malformation_syndrome {source="Orphanet:2496"} synonym: "8q13 microdeletion syndrome" EXACT [Orphanet:2496] synonym: "chromosome 8Q13 deletion syndrome" RELATED [OMIM:600383] synonym: "Del(8)q(13)" EXACT [Orphanet:2496] synonym: "dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis" RELATED [GARD:0004302] synonym: "mesomelia synostoses" RELATED [GARD:0004302] synonym: "mesomelia-synostoses syndrome" EXACT [OMIM:600383] synonym: "mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type" EXACT [Orphanet:2496] synonym: "mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type" EXACT [OMIM:600383, Orphanet:2496] synonym: "mesomelic dysplasia, syndromic" RELATED [OMIM:600383] synonym: "monosomy 8q13" EXACT [Orphanet:2496] synonym: "Verloes-David syndrome" EXACT [Orphanet:2496] xref: MESH:C537348 {source="MONDO:equivalentTo"} xref: OMIM:600383 {source="Orphanet:2496", source="MONDO:equivalentTo", source="Orphanet:2496/e"} xref: Orphanet:2496 {source="MONDO:equivalentTo", source="OMIM:600383"} xref: SCTID:724147004 {source="MONDO:equivalentTo"} xref: UMLS:C1838162 {source="Orphanet:2496", source="MONDO:equivalentTo", source="Orphanet:2496/e", source="MONDO:ncbi_mim2gene_medline", source="OMIM:600383"} is_a: EFO:0005571 {source="https://orcid.org/0000-0001-5208-3432"} ! osteochondrodysplasia is_a: MONDO:0016907 {source="Orphanet:2496"} ! partial deletion of the long arm of chromosome 8 is_a: MONDO:0019697 {source="PMID:31633310"} ! mesomelic and rhizo-mesomelic dysplasia property_value: exactMatch http://identifiers.org/mesh/C537348 property_value: exactMatch http://identifiers.org/snomedct/724147004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838162 property_value: exactMatch https://omim.org/entry/600383 property_value: exactMatch Orphanet:2496 property_value: excluded_subClassOf MONDO:0019696 {source="Orphanet:2496"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4302/mesomelia-synostoses-syndrome xsd:anyURI {source="GARD:0004302"} [Term] id: MONDO:0010882 name: aphalangy-syndactyly-microcephaly syndrome def: "Aphalangy-syndactyly-microcephaly is an extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability." [Orphanet:1113] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1113"} synonym: "Aphalangia partial with syndactyly and duplication of metatarsal IV" RELATED [GARD:0000748] synonym: "Aphalangia, partial, with syndactyly and Duplication of metatarsal 4" RELATED [OMIM:600384] synonym: "APHALANGIA, partial, with syndactyly and DUPLICATION of metatarsal IV" RELATED [OMIM:600384] synonym: "Aphalangia, partial, with syndactyly and Duplication of metatarsal type 4" EXACT [MONDORULE:1, OMIM:600384] xref: MESH:C563942 {source="MONDO:equivalentTo"} xref: OMIM:600384 {source="Orphanet:1113", source="MONDO:equivalentTo", source="Orphanet:1113/e", source="GARD:0000748"} xref: Orphanet:1113 {source="OMIM:600384", source="MONDO:equivalentTo"} xref: UMLS:C1838161 {source="OMIM:600384", source="Orphanet:1113", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="GARD:0000748"} is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0019054 ! congenital limb malformation property_value: exactMatch http://identifiers.org/mesh/C563942 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838161 property_value: exactMatch https://omim.org/entry/600384 property_value: exactMatch Orphanet:1113 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/748/aphalangia-partial-with-syndactyly-and-duplication-of-metatarsal-iv xsd:anyURI {source="GARD:0000748"} [Term] id: MONDO:0010885 name: angiokeratoma corporis diffusum with arteriovenous fistulas synonym: "angiokeratoma corporis diffusum with arteriovenous fistulas" EXACT [OMIM:600419] xref: MESH:C563940 {source="MONDO:equivalentTo"} xref: OMIM:600419 {source="MONDO:equivalentTo"} xref: UMLS:C1838141 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:600419"} is_a: EFO:0000508 {source="MESH:C563940/inferred"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C563940 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838141 property_value: exactMatch https://omim.org/entry/600419 [Term] id: MONDO:0010886 name: 2q37 microdeletion syndrome def: "A chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism." [https://orcid.org/0000-0001-5208-3432, Orphanet:1001] subset: ordo_malformation_syndrome {source="Orphanet:1001"} synonym: "2q37 deletion syndrome" RELATED [GARD:0010202] synonym: "2q37 microdeletion syndrome" EXACT [] synonym: "2q37 monosomy" EXACT [DECIPHER:44] synonym: "Albright hereditary osteodystrophy type 3" EXACT [Orphanet:1001] synonym: "Albright hereditary osteodystrophy-like syndrome" EXACT [OMIM:600430, Orphanet:1001] synonym: "BDMR" EXACT ABBREVIATION [NCIT:C129021] synonym: "brachydactyly intellectual disability syndrome" EXACT [NCIT:C129021] synonym: "brachydactyly mental retardation syndrome" EXACT DEPRECATED [NCIT:C129021] synonym: "brachydactyly-intellectual disability syndrome" EXACT [OMIM:600430, Orphanet:1001] synonym: "brachydactyly-mental retardation syndrome" RELATED DEPRECATED [OMIM:600430] synonym: "chromosome 2q37 deletion syndrome" RELATED [OMIM:600430] synonym: "Del(2)(q37)" EXACT [Orphanet:1001] synonym: "deletion 2q37" EXACT [Orphanet:1001] synonym: "deletion 2q37-qter" EXACT [Orphanet:1001] synonym: "monosomy 2q37-qter" EXACT [Orphanet:1001] xref: DECIPHER:44 {source="MONDO:equivalentTo"} xref: DOID:0111704 {source="MONDO:equivalentTo"} xref: ICD9:758.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538317 {source="Orphanet:1001", source="MONDO:equivalentTo", source="Orphanet:1001/e"} xref: NCIT:C129021 {source="MONDO:equivalentTo"} xref: OMIM:600430 {source="Orphanet:1001", source="MONDO:equivalentTo", source="Orphanet:1001/e"} xref: Orphanet:1001 {source="OMIM:600430", source="MONDO:equivalentTo"} xref: SCTID:702357000 {source="MONDO:equivalentTo"} xref: UMLS:C2931817 {source="OMIM:600430", source="Orphanet:1001", source="MONDO:equivalentTo", source="Orphanet:1001/e", source="NCIT:C129021"} is_a: MONDO:0016901 {source="Orphanet:1001"} ! partial deletion of the long arm of chromosome 2 is_a: MONDO:0018454 ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation is_a: MONDO:0800094 {source="PMID:31633310"} ! dysostosis with brachydactyly with extraskeletal manifestations property_value: exactMatch DOID:0111704 property_value: exactMatch http://identifiers.org/mesh/C538317 property_value: exactMatch http://identifiers.org/snomedct/702357000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931817 property_value: exactMatch https://omim.org/entry/600430 property_value: exactMatch NCIT:C129021 property_value: exactMatch Orphanet:1001 property_value: excluded_subClassOf MONDO:0000508 property_value: excluded_subClassOf MONDO:0002254 {source="NCIT:C129021"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0010887 name: isolated anterior cervical hypertrichosis def: "Anterior cervical hypertrichosis is a rare form of localized hypertrichosis characterized by hair growth near the laryngeal prominence during childhood." [Orphanet:3387] subset: gard_rare {source="GARD:0008438"} subset: ordo_disease {source="Orphanet:3387"} synonym: "anterior cervical hypertrichosis" RELATED [GARD:0008438] synonym: "hairy throat" RELATED [GARD:0008438] synonym: "hairy throat syndrome" EXACT [Orphanet:3387] synonym: "hypertrichosis, anterior cervical" RELATED [OMIM:600457] synonym: "Tsukahara Kajii syndrome" RELATED [GARD:0008438] synonym: "Tsukahara-Kajii syndrome" EXACT [Orphanet:3387] xref: MESH:C538390 {source="MONDO:equivalentTo"} xref: OMIM:600457 {source="Orphanet:3387", source="MONDO:equivalentTo", source="Orphanet:3387/e"} xref: Orphanet:3387 {source="MONDO:equivalentTo", source="OMIM:600457"} xref: SCTID:717963001 {source="MONDO:equivalentTo"} xref: UMLS:C1838123 {source="Orphanet:3387", source="MONDO:equivalentTo", source="OMIM:600457", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019280 {source="DC-OMIM:600457", source="MESH:C538390", source="Orphanet:3387"} ! hypertrichosis property_value: exactMatch http://identifiers.org/mesh/C538390 property_value: exactMatch http://identifiers.org/snomedct/717963001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838123 property_value: exactMatch https://omim.org/entry/600457 property_value: exactMatch Orphanet:3387 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8438/isolated-anterior-cervical-hypertrichosis xsd:anyURI {source="GARD:0008438"} [Term] id: MONDO:0010888 name: adenomyosis def: "The growth of endometrial tissue inside the muscular wall of the uterine corpus. Clinical manifestations include pain, dysmenorrhea, and menorrhagia." [NCIT:C6996] comment: Editor note: NCIT does not classify as a subtype of endometriosis synonym: "adenomyosis of the uterus" EXACT [NCIT:C6996] synonym: "adenomyosis of uterus" EXACT [NCIT:C6996] synonym: "endometriosis (disease) of myometrium" EXACT [] synonym: "endometriosis interna" EXACT [DOID:288] synonym: "endometriosis of myometrium" EXACT [DOID:288] synonym: "endometriosis of uterus" EXACT [DOID:288] synonym: "endometriosis, myometrium" EXACT [DOID:288] synonym: "myometrium endometriosis (disease)" EXACT [MONDO:patterns/location] synonym: "uterine adenomyosis" EXACT [DOID:288, NCIT:C6996] synonym: "uterine corpus adenomyosis" EXACT [NCIT:C6996] synonym: "uterus corpus adenomyosis" EXACT [NCIT:C6996] xref: DOID:288 {source="MONDO:equivalentTo"} xref: EFO:1001757 {source="MONDO:equivalentTo"} xref: ICD10CM:N80.0 {source="MONDO:equivalentTo", source="DOID:288"} xref: ICD9:617.0 {source="DOID:288"} xref: MESH:D062788 {source="MONDO:equivalentTo", source="DOID:288"} xref: NCIT:C6996 {source="MONDO:equivalentTo", source="DOID:288"} xref: OMIM:600458 {source="MONDO:equivalentTo", source="DOID:288"} xref: SCTID:237115002 {source="MONDO:equivalentTo", source="DOID:288"} xref: UMLS:C0341858 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C6996", source="OMIM:600458", source="DOID:288"} is_a: MONDO:0000931 {source="https://orcid.org/0000-0002-7463-6306"} ! endometrial disorder property_value: exactMatch DOID:288 property_value: exactMatch http://identifiers.org/mesh/D062788 property_value: exactMatch http://identifiers.org/snomedct/237115002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341858 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/N80.0 property_value: exactMatch https://omim.org/entry/600458 property_value: exactMatch NCIT:C6996 property_value: excluded_subClassOf MONDO:0005133 {source="DOID:288", source="ICD10CM:N80.0"} property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5241 xsd:anyURI [Term] id: MONDO:0010890 name: acrocardiofacial syndrome def: "Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit." [Orphanet:2008] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2008"} synonym: "ACFS" EXACT ABBREVIATION [Orphanet:2008] synonym: "acrocardiofacial syndrome" EXACT [OMIM:600460] synonym: "CCGE" RELATED ABBREVIATION [OMIM:600460] synonym: "CCGE syndrome" EXACT [Orphanet:2008] synonym: "cleft palate, CARDIAC defect, genital anomalies, and ectrodactyly" RELATED [OMIM:600460] synonym: "cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome" EXACT [Orphanet:2008] xref: DOID:0070419 {source="MONDO:equivalentTo"} xref: MESH:C563936 {source="MONDO:equivalentTo"} xref: OMIM:600460 {source="MONDO:equivalentTo", source="Orphanet:2008", source="Orphanet:2008/e"} xref: Orphanet:2008 {source="MONDO:equivalentTo", source="OMIM:600460"} xref: UMLS:C1838121 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2008", source="OMIM:600460"} is_a: MONDO:0015159 {source="Orphanet:2008"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch DOID:0070419 property_value: exactMatch http://identifiers.org/mesh/C563936 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838121 property_value: exactMatch https://omim.org/entry/600460 property_value: exactMatch Orphanet:2008 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2008"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010891 name: lethal hemolytic anemia-genital anomalies syndrome def: "Waters-West syndrome is characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions (at 6 and 12 weeks gestation) but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. Although the parents were not known to be consanguineous, they shared a French-Canadian and American Indian ethnic origin." [Orphanet:1046] subset: ordo_malformation_syndrome {source="Orphanet:1046"} synonym: "hemolytic anaemia lethal congenital nonspherocytic with genital and other abnormalities" RELATED OMO:0003005 [] synonym: "hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities" RELATED [GARD:0002642] synonym: "hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities" RELATED [OMIM:600461] synonym: "water-West syndrome" EXACT [Orphanet:1046] xref: MESH:C563935 {source="MONDO:equivalentTo"} xref: OMIM:600461 {source="Orphanet:1046", source="MONDO:equivalentTo", source="Orphanet:1046/e"} xref: Orphanet:1046 {source="OMIM:600461", source="MONDO:equivalentTo"} xref: UMLS:C1838120 {source="OMIM:600461", source="Orphanet:1046", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0004139 ! normocytic anemia is_a: MONDO:0015620 {source="Orphanet:1046"} ! syndromic urogenital tract malformation property_value: exactMatch http://identifiers.org/mesh/C563935 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838120 property_value: exactMatch https://omim.org/entry/600461 property_value: exactMatch Orphanet:1046 [Term] id: MONDO:0010895 name: ABCD syndrome def: "An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB)." [DOID:0050600, http://en.wikipedia.org/wiki/ABCD_syndrome, OMIM:600501] synonym: "ABCD syndrome" EXACT [MONDO:Lexical, OMIM:600501] synonym: "ABCDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600501] synonym: "albinism, black lock, cell migration disorder of the Neurocytes of the gut, and deafness" RELATED [OMIM:600501] synonym: "albinism, block lock, cell migration disorder of the neurocytes of the gut, and deafness" EXACT [DOID:0050600] xref: DOID:0050600 {source="MONDO:equivalentTo"} xref: MESH:C535334 {source="MONDO:equivalentTo"} xref: OMIM:600501 {source="MONDO:equivalentTo", source="DOID:0050600"} xref: Orphanet:918 {source="MONDO:equivalentObsolete", source="OMIM:600501"} xref: UMLS:C1838099 {source="MONDO:equivalentTo", source="OMIM:600501", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:CN206498 {source="MONDO:equivalentTo"} is_a: EFO:1000017 {source="DOID:0050600", source="MONDO:Redundant"} ! autosomal recessive disease property_value: exactMatch DOID:0050600 property_value: exactMatch http://identifiers.org/mesh/C535334 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838099 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206498 property_value: exactMatch https://omim.org/entry/600501 property_value: excluded_subClassOf MONDO:0005093 {source="DOID:0050600", source="MONDO:Redundant"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5682 xsd:anyURI [Term] id: MONDO:0010896 name: pigment dispersion syndrome def: "Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and raising the pressure within the eye (intraocular pressure or IOP). This rise in eye pressure can cause damage to the optic nerve (the nerve in the back of the eye that carries visual images to the brain). If the optic nerve becomes damaged, pigment-dispersion syndrome becomes pigmentary glaucoma. This happens in about 30% of cases. Pigment-dispersion syndrome commonly presents between the second and fourth decades, which is earlier than other types of glaucoma. While men and women are affected in equal numbers, men develop pigmentary glaucoma up to 3 times more often than women. Myopia (nearsightedness) appears to be an important risk factor in the development of pigment-dispersion syndrome and is present in up to 80% of affected individuals. The condition may be sporadic or follow an autosomal dominant pattern of inheritance with reduced penetrance. At least one gene locus on chromosome 7 has been identified. Pigment-dispersion syndrome can be treated with eye drops or other medications. In some cases, laser surgery may be performed." [https://rarediseases.info.nih.gov/diseases/4356/pigment-dispersion-syndrome] subset: gard_rare {source="GARD:0004356"} synonym: "glaucoma, pigment-dispersion type" RELATED [OMIM:600510] synonym: "glaucoma-RELATED pigment dispersion syndrome" RELATED [MONDO:Lexical, OMIM:600510] synonym: "glaucoma-related pigment dispersion syndrome" EXACT [DOID:0060680] synonym: "GPDS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600510] synonym: "pigment dispersion syndrome" EXACT [OMIM:600510] synonym: "pigment-dispersion syndrome" RELATED [GARD:0004356] synonym: "pigment-dispersion type glaucoma" EXACT [DOID:0060680] xref: DOID:0060680 {source="MONDO:equivalentTo"} xref: MESH:C563184 {source="MONDO:equivalentTo", source="DOID:0060680"} xref: NCIT:C187288 {source="MONDO:equivalentTo"} xref: OMIM:600510 {source="MONDO:equivalentTo", source="DOID:0060680"} xref: Orphanet:26823 {source="MONDO:equivalentObsolete", source="OMIM:600510"} xref: SCTID:392133001 {source="MONDO:equivalentTo"} xref: UMLS:C1271398 {source="OMIM:600510", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: EFO:0003966 {source="DOID:0060680", source="MESH:C563184/inferred"} ! eye disease property_value: exactMatch DOID:0060680 property_value: exactMatch http://identifiers.org/mesh/C563184 property_value: exactMatch http://identifiers.org/snomedct/392133001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1271398 property_value: exactMatch https://omim.org/entry/600510 property_value: exactMatch NCIT:C187288 property_value: gwas:trait "true" xsd:boolean property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4356/pigment-dispersion-syndrome xsd:anyURI {source="GARD:0004356"} [Term] id: MONDO:0010898 name: autosomal dominant epilepsy with auditory features def: "A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution." [Orphanet:101046] comment: Editor note: split out generic type subset: ordo_disease {source="Orphanet:101046"} synonym: "ADEAF" EXACT ABBREVIATION [Orphanet:101046] synonym: "ADLTE" EXACT ABBREVIATION [Orphanet:101046] synonym: "ADPEAF" EXACT ABBREVIATION [Orphanet:101046] synonym: "Autosomal dominant epilepsy with auditory features" EXACT [] synonym: "autosomal dominant epilepsy with auditory features" EXACT [Orphanet:101046] synonym: "autosomal dominant lateral temporal lobe epilepsy" EXACT [Orphanet:101046] synonym: "autosomal dominant partial epilepsy with auditory features" RELATED [GARD:0002257] synonym: "epilepsy, familial temporal lobe 1" NARROW [NCIT:C141441] synonym: "epilepsy, familial temporal lobe, 1" RELATED [MONDO:Lexical, OMIM:600512] synonym: "epilepsy, familial temporal lobe, type 1" NARROW [MONDORULE:1, OMIM:600512] synonym: "epilepsy, lateral temporal lobe, autosomal dominant" RELATED [OMIM:600512] synonym: "epilepsy, partial, with auditory features" RELATED [OMIM:600512] synonym: "ETL1" NARROW ABBREVIATION [DOID:0060748, MONDO:Lexical, OMIM:600512] synonym: "familial temporal lobe epilepsy 1" NARROW [https://github.com/monarch-initiative/mondo/issues/1134] synonym: "familial temporal lobe epilepsy type 1" NARROW [DOID:0060748, MONDORULE:1] synonym: "partial epilepsy with auditory aura" EXACT [Orphanet:101046] synonym: "partial epilepsy with auditory features" EXACT [DOID:0060748, Orphanet:101046] xref: DOID:0060748 {source="MONDO:equivalentTo"} xref: MESH:C537297 {source="MONDO:equivalentTo"} xref: Orphanet:101046 {source="MONDO:equivalentTo", source="OMIM:600512", source="DOID:0060748"} xref: UMLS:C1838062 {source="Orphanet:101046", source="MONDO:equivalentTo", source="OMIM:600512", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0000773 {source="DC-OMIM:600512", source="DOID:0060748", source="OMIM:600512"} ! temporal lobe epilepsy property_value: exactMatch DOID:0060748 property_value: exactMatch http://identifiers.org/mesh/C537297 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838062 property_value: exactMatch Orphanet:101046 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1134 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2614 xsd:anyURI [Term] id: MONDO:0010902 name: spondyloepiphyseal dysplasia, Reardon type def: "Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process." [Orphanet:163662] subset: ordo_disease {source="Orphanet:163662"} synonym: "spondyloepiphyseal dysplasia with atlantoaxial instability" RELATED [OMIM:600561] xref: MESH:C563472 {source="MONDO:equivalentTo"} xref: OMIM:600561 {source="MONDO:equivalentTo", source="Orphanet:163662", source="Orphanet:163662/e"} xref: Orphanet:163662 {source="OMIM:600561", source="MONDO:equivalentTo"} xref: SCTID:718764004 {source="MONDO:equivalentTo"} xref: UMLS:C1833603 {source="OMIM:600561", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:163662"} is_a: MONDO:0016761 {source="Orphanet:163662"} ! spondyloepiphyseal dysplasia property_value: exactMatch http://identifiers.org/mesh/C563472 property_value: exactMatch http://identifiers.org/snomedct/718764004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833603 property_value: exactMatch https://omim.org/entry/600561 property_value: exactMatch Orphanet:163662 [Term] id: MONDO:0010907 name: familial hypertryptophanemia def: "Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria." [Orphanet:2224] subset: gard_rare {source="GARD:0002871"} subset: ordo_disease {source="Orphanet:2224"} synonym: "familial hypertryptophanemia" EXACT [] synonym: "hypertryptophanemia" BROAD [OMIM:600627, OMIM:genemap2] synonym: "hypertryptophanemia, familial" RELATED [OMIM:600627] synonym: "HYPTRP" RELATED ABBREVIATION [OMIM:600627] xref: DOID:0111703 {source="MONDO:equivalentTo"} xref: MESH:C538393 {source="Orphanet:2224", source="MONDO:equivalentTo", source="Orphanet:2224/e"} xref: OMIM:600627 {source="Orphanet:2224", source="MONDO:equivalentTo", source="Orphanet:2224/e"} xref: Orphanet:2224 {source="MONDO:equivalentTo", source="OMIM:600627"} xref: SCTID:721838005 {source="MONDO:equivalentTo"} xref: UMLS:C1833562 {source="MONDO:equivalentObsolete", source="MONDO:ncbi_mim2gene_medline", source="OMIM:600627"} xref: UMLS:C2931837 {source="Orphanet:2224", source="MONDO:equivalentTo", source="Orphanet:2224/e"} is_a: MONDO:0017350 {source="Orphanet:2224"} ! inborn disorder of tryptophan metabolism property_value: exactMatch DOID:0111703 property_value: exactMatch http://identifiers.org/mesh/C538393 property_value: exactMatch http://identifiers.org/snomedct/721838005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931837 property_value: exactMatch https://omim.org/entry/600627 property_value: exactMatch Orphanet:2224 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2871/hypertryptophanemia xsd:anyURI {source="GARD:0002871"} [Term] id: MONDO:0010908 name: loose anagen syndrome def: "Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma." [Orphanet:168] subset: ordo_disease {source="Orphanet:168"} synonym: "loose anagen hair syndrome" RELATED [OMIM:600628] xref: DOID:0111702 {source="MONDO:equivalentTo"} xref: ICD9:704.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D058247 {source="Orphanet:168/e", source="MONDO:equivalentTo", source="Orphanet:168"} xref: OMIM:600628 {source="Orphanet:168/e", source="MONDO:equivalentTo", source="Orphanet:168"} xref: Orphanet:168 {source="MONDO:equivalentTo", source="OMIM:600628"} xref: SCTID:238735005 {source="MONDO:equivalentTo"} xref: UMLS:C0406468 {source="Orphanet:168/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:600628", source="Orphanet:168"} is_a: MONDO:0004907 {source="MESH:D058247", source="Orphanet:168"} ! alopecia is_a: MONDO:0021147 ! disorder of development or morphogenesis property_value: exactMatch DOID:0111702 property_value: exactMatch http://identifiers.org/mesh/D058247 property_value: exactMatch http://identifiers.org/snomedct/238735005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406468 property_value: exactMatch https://omim.org/entry/600628 property_value: exactMatch Orphanet:168 [Term] id: MONDO:0010914 name: carnitine palmitoyl transferase II deficiency, severe infantile form def: "The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease." [Orphanet:228305] subset: ordo_clinical_subtype {source="Orphanet:228305"} synonym: "Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form" EXACT [Orphanet:228305] synonym: "Carnitine palmitoyl transferase deficiency type 2, severe infantile form" EXACT [Orphanet:228305] synonym: "Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form" EXACT [Orphanet:228305] synonym: "carnitine palmitoyl transferase II deficiency, severe infantile form" EXACT [] synonym: "Carnitine Palmitoyltransferase 2 deficiency with hypoketotic hypoglycemia" RELATED [OMIM:600649] synonym: "Carnitine Palmitoyltransferase 2 deficiency, hepatocardiomuscular" RELATED [OMIM:600649] synonym: "Carnitine Palmitoyltransferase 2 deficiency, infantile" RELATED [OMIM:600649] synonym: "CARNITINE PALMITOYLTRANSFERASE II deficiency, infantile" RELATED [OMIM:600649] synonym: "CPT 2 deficiency, hepatic" RELATED [OMIM:600649] synonym: "CPT II deficiency, infantile" EXACT [OMIM:600649, OMIM:genemap2] synonym: "Cpt2 deficiency, infantile" RELATED [OMIM:600649] synonym: "CPT2, hepatocardiomuscular form" EXACT [Orphanet:228305] synonym: "CPT2, severe infantile form" EXACT [Orphanet:228305] synonym: "CPTII, hepatocardiomuscular form" EXACT [Orphanet:228305] synonym: "CPTII, severe infantile form" EXACT [Orphanet:228305] xref: MESH:C563462 {source="MONDO:equivalentTo"} xref: OMIM:600649 {source="Orphanet:228305", source="MONDO:equivalentTo", source="Orphanet:228305/e"} xref: Orphanet:228305 {source="MONDO:equivalentTo", source="OMIM:600649"} xref: UMLS:C1833511 {source="Orphanet:228305", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:600649"} is_a: MONDO:0015515 {source="DC-OMIM:600649", source="Orphanet:228305"} ! carnitine palmitoyltransferase II deficiency property_value: exactMatch http://identifiers.org/mesh/C563462 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833511 property_value: exactMatch https://omim.org/entry/600649 property_value: exactMatch Orphanet:228305 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010916 name: polycystic kidney disease 3 with or without polycystic liver disease def: "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the GANAB gene." [MONDO:patterns/disease_series_by_gene] synonym: "Apkd3" EXACT [DOID:0110860] synonym: "autosomal dominant polycystic kidney disease caused by mutation in GANAB" EXACT [MONDO:design_pattern] synonym: "GANAB autosomal dominant polycystic kidney disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "PKD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600666] synonym: "Pkd3" EXACT [DOID:0110860] synonym: "polycystic kidney disease 3" EXACT [OMIM:600666] synonym: "polycystic kidney disease 3 with or without polycystic liver disease" EXACT [OMIM:600666] synonym: "polycystic kidney disease 3, autosomal dominant" EXACT [MONDO:Lexical, OMIM:600666] synonym: "polycystic kidney disease type 3" EXACT [DOID:0110860, MONDORULE:1] synonym: "polycystic kidney disease, adult, type 3" EXACT [OMIM:600666] synonym: "polycystic kidney disease, adult, type III" EXACT [DOID:0110860] synonym: "polycystic kidney disease, type 3" EXACT [OMIM:600666] xref: DOID:0110860 {source="MONDO:equivalentTo"} xref: OMIM:600666 {source="MONDO:equivalentTo", source="DOID:0110860"} xref: UMLS:C3887964 {source="MONDO:equivalentTo"} is_a: EFO:1001496 {source="DC-OMIM:600666", source="DOID:0110860", source="MONDO:Redundant", source="OMIM:600666"} ! Autosomal dominant polycystic kidney disease property_value: exactMatch DOID:0110860 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3887964 property_value: exactMatch https://omim.org/entry/600666 [Term] id: MONDO:0010920 name: microtia def: "A congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal." [https://orcid.org/0000-0001-5208-3432, Orphanet:83463] subset: ordo_morphological_anomaly {source="Orphanet:83463"} synonym: "anotia" NARROW [MESH:D065817] synonym: "congenital microtias" EXACT [MESH:D065817] synonym: "M-A" EXACT [GARD:0000431] synonym: "microtia, congenital" EXACT [MESH:D065817] synonym: "microtia-anotia" EXACT [OMIM:600674] synonym: "microtias, congenital" EXACT [MESH:D065817] xref: ICD10CM:Q17.2 {source="Orphanet:83463", source="MONDO:equivalentTo", source="Orphanet:83463/e", source="Orphanet:83463/specific"} xref: ICD9:744.23 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10027555 {source="Orphanet:83463", source="Orphanet:83463/e"} xref: MESH:C537772 {source="Orphanet:83463", source="MONDO:equivalentObsolete", source="Orphanet:83463/e"} xref: MESH:D065817 {source="MONDO:equivalentTo"} xref: OMIM:600674 {source="Orphanet:83463", source="MONDO:equivalentTo", source="Orphanet:83463/e"} xref: Orphanet:83463 {source="OMIM:600674", source="MONDO:equivalentTo"} xref: Orphanet:93976 {source="OMIM:600674", source="MONDO:directSiblingOf"} xref: SCTID:35045004 {source="MONDO:equivalentTo"} is_a: MONDO:0018562 {source="MONDO:0015502-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! hereditary otorhinolaryngological malformation is_a: MONDO:0019755 {source="MONDO:0019936-obsoleted"} ! developmental defect during embryogenesis property_value: closeMatch http://identifiers.org/meddra/10027555 property_value: exactMatch http://identifiers.org/mesh/D065817 property_value: exactMatch http://identifiers.org/snomedct/35045004 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q17.2 property_value: exactMatch https://omim.org/entry/600674 property_value: exactMatch Orphanet:83463 [Term] id: MONDO:0010924 name: D-2-hydroxyglutaric aciduria def: "D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid." [Orphanet:79315] subset: ordo_disease {source="Orphanet:79315"} subset: prototype_pattern synonym: "D-2-HGA" EXACT [Orphanet:79315] synonym: "D-2-hydroxyglutaric acidemia" EXACT [Orphanet:79315] synonym: "D-2-hydroxyglutaric aciduria 1" RELATED [MONDO:Lexical, OMIM:600721] synonym: "D-2-hydroxyglutaric aciduria type 1" EXACT [MONDORULE:1, OMIM:600721] synonym: "D2HA" RELATED ABBREVIATION [GARD:0005661] synonym: "D2HGA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600721] xref: DOID:0050575 {source="MONDO:equivalentTo"} xref: OMIMPS:600721 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:79315 {source="MONDO:equivalentTo", source="OMIM:600721"} xref: SCTID:237960000 {source="MONDO:equivalentTo"} xref: UMLS:C1833429 {source="MONDO:equivalentTo"} xref: UMLS:CN233040 {source="MONDO:equivalentTo"} is_a: MONDO:0016001 {source="DOID:0050575", source="Orphanet:79315"} ! 2-hydroxyglutaric aciduria property_value: exactMatch DOID:0050575 property_value: exactMatch http://identifiers.org/snomedct/237960000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833429 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN233040 property_value: exactMatch https://omim.org/phenotypicSeries/PS600721 property_value: exactMatch Orphanet:79315 [Term] id: MONDO:0010925 name: velo-facial-skeletal syndrome def: "Velo-facial-skeletal syndrome is a very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported." [Orphanet:3424] subset: ordo_malformation_syndrome {source="Orphanet:3424"} synonym: "VELOFACIOSKELETAL syndrome" RELATED [OMIM:600736] xref: MESH:C536536 {source="MONDO:equivalentTo"} xref: OMIM:600736 {source="Orphanet:3424", source="MONDO:equivalentTo", source="Orphanet:3424/e"} xref: Orphanet:3424 {source="MONDO:equivalentTo", source="OMIM:600736"} xref: SCTID:763616002 {source="MONDO:equivalentTo"} xref: UMLS:C1833380 {source="Orphanet:3424", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:600736"} is_a: MONDO:0015161 {source="Orphanet:3424"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability property_value: exactMatch http://identifiers.org/mesh/C536536 property_value: exactMatch http://identifiers.org/snomedct/763616002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833380 property_value: exactMatch https://omim.org/entry/600736 property_value: exactMatch Orphanet:3424 [Term] id: MONDO:0010926 name: familial hypocalciuric hypercalcemia 3 def: "Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_etiological_subtype {source="Orphanet:101050"} synonym: "AP2S1 familial hypocalciuric hypercalcemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial benign hypercalcemia, Oklahoma variant" RELATED [GARD:0002878] synonym: "familial benign hypercalcemia, type 3" RELATED [OMIM:600740] synonym: "familial hypocalciuric hypercalcemia caused by mutation in AP2S1" EXACT [MONDO:design_pattern] synonym: "familial hypocalciuric hypercalcemia type 3" EXACT [DOID:0060702, MONDORULE:1] synonym: "FBH3" RELATED ABBREVIATION [GARD:0002878] synonym: "FBHOk" RELATED [GARD:0002878] synonym: "FHH type 3" EXACT [DOID:0060702, Orphanet:101050] synonym: "HHC3" EXACT ABBREVIATION [DOID:0060702, MONDO:Lexical, OMIM:600740] synonym: "hpocalciuric hypercalcemia, type III" EXACT [OMIM:600740, OMIM:genemap2] synonym: "hypercalcemia, familial benign, Oklahoma type" RELATED [OMIM:600740] synonym: "hypercalcemia, familial benign, type 3" RELATED [OMIM:600740] synonym: "hypocalciuric hypercalcemia type III" EXACT [DOID:0060702] synonym: "hypocalciuric hypercalcemia, familial, type 3" RELATED [GARD:0002878, OMIM:600740] synonym: "hypocalciuric hypercalcemia, familial, type III" RELATED [MONDO:Lexical, OMIM:600740] xref: DOID:0060702 {source="MONDO:equivalentTo"} xref: MESH:C537147 {source="Orphanet:101050/e", source="MONDO:equivalentTo", source="Orphanet:101050"} xref: OMIM:600740 {source="Orphanet:101050/e", source="MONDO:equivalentTo", source="Orphanet:101050", source="DOID:0060702"} xref: Orphanet:101050 {source="OMIM:600740", source="MONDO:equivalentTo", source="DOID:0060702"} xref: UMLS:C1833372 {source="Orphanet:101050/e", source="OMIM:600740", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:101050"} is_a: MONDO:0018458 {source="DC-OMIM:600740", source="DOID:0060702", source="MONDO:Redundant", source="OMIM:600740", source="Orphanet:101050"} ! familial hypocalciuric hypercalcemia property_value: exactMatch DOID:0060702 property_value: exactMatch http://identifiers.org/mesh/C537147 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833372 property_value: exactMatch https://omim.org/entry/600740 property_value: exactMatch Orphanet:101050 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010930 name: anophthalmia plus syndrome def: "Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested." [Orphanet:1104] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1104"} synonym: "anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder" RELATED [GARD:0000719] synonym: "anophthalmia-plus syndrome" RELATED [OMIM:600776] synonym: "Fryns anophthalmia syndrome" RELATED [GARD:0000719] synonym: "Fryns microphthalmia syndrome" EXACT [GARD:0000719, OMIM:600776, Orphanet:1104] synonym: "Leichtman Wood Rohn syndrome" RELATED [GARD:0000719] synonym: "microphthalmia with facial clefting" EXACT [GARD:0000719, OMIM:600776, Orphanet:1104] xref: MESH:C537767 {source="MONDO:equivalentTo", source="Orphanet:1104", source="Orphanet:1104/e"} xref: OMIM:600776 {source="GARD:0000719", source="MONDO:equivalentTo", source="Orphanet:1104", source="Orphanet:1104/e"} xref: Orphanet:1104 {source="GARD:0000719", source="MONDO:equivalentTo", source="OMIM:600776"} xref: SCTID:720496006 {source="MONDO:equivalentTo"} xref: UMLS:C1833339 {source="GARD:0000719", source="MONDO:equivalentTo", source="OMIM:600776", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1104", source="Orphanet:1104/e"} is_a: MONDO:0002254 {source="MONDO:cjm", source="https://github.com/monarch-initiative/mondo/issues/140"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:1104"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C537767 property_value: exactMatch http://identifiers.org/snomedct/720496006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833339 property_value: exactMatch https://omim.org/entry/600776 property_value: exactMatch Orphanet:1104 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/719/anophthalmia-plus-syndrome xsd:anyURI {source="GARD:0000719"} [Term] id: MONDO:0010932 name: progressive bifocal chorioretinal atrophy def: "Progressive bifocal chorioretinal atrophy (PBCRA) is an early-onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression." [Orphanet:75373] subset: gard_rare {source="GARD:0010123"} subset: ordo_disease {source="Orphanet:75373"} synonym: "chorioretinal atrophy, progressive bifocal" RELATED [OMIM:600790] synonym: "CRAPB" EXACT ABBREVIATION [Orphanet:75373] synonym: "Crapb" RELATED [OMIM:600790] synonym: "PBCRA" EXACT ABBREVIATION [Orphanet:75373] synonym: "progressive bifocal chorioretinal atrophy" EXACT [OMIM:600790] xref: MESH:C535356 {source="Orphanet:75373/e", source="MONDO:equivalentTo", source="Orphanet:75373"} xref: OMIM:600790 {source="Orphanet:75373/e", source="MONDO:equivalentTo", source="Orphanet:75373"} xref: Orphanet:75373 {source="MONDO:equivalentTo", source="OMIM:600790"} xref: SCTID:719266007 {source="MONDO:equivalentTo"} xref: UMLS:C1833321 {source="Orphanet:75373/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:75373", source="OMIM:600790"} is_a: MONDO:0019118 {source="Orphanet:75373"} ! inherited retinal dystrophy property_value: exactMatch http://identifiers.org/mesh/C535356 property_value: exactMatch http://identifiers.org/snomedct/719266007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833321 property_value: exactMatch https://omim.org/entry/600790 property_value: exactMatch Orphanet:75373 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10123/progressive-bifocal-chorioretinal-atrophy xsd:anyURI {source="GARD:0010123"} [Term] id: MONDO:0010933 name: autosomal recessive nonsyndromic hearing loss 4 def: "An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22. Mutation in the FOXI1 gene has been found to be a rare cause of EVA. EVA may also be rarely caused by digenic inheritance of heterozygous mutations in the SLC26A4 and FOXI1 genes, or in the SLC26A4 and KCNJ10 genes." [DOID:0110498, OMIM:600791, PMID:9500541] synonym: "autosomal recessive deafness 4 with enlarged vestibular aqueduct" NARROW [DOID:0110498] synonym: "autosomal recessive nonsyndromic deafness 4" NARROW [OMIM:600791] synonym: "autosomal recessive nonsyndromic deafness type 4" NARROW [DOID:0110498, MONDORULE:1] synonym: "deafness, autosomal recessive 4, with enlarged vestibular aqueduct" NARROW [MONDO:Lexical, OMIM:600791, OMIM:genemap2] synonym: "DFNB4" NARROW ABBREVIATION [DOID:0110498, MONDO:Lexical, OMIM:600791] synonym: "dilated vestibular aqueduct" RELATED [OMIM:600791] synonym: "enlarged vestibular aqueduct" EXACT [OMIM:600791, OMIM:genemap2] synonym: "enlarged vestibular aqueduct, digenic" EXACT [OMIM:600791, OMIM:genemap2] synonym: "neurosensory nonsyndromic recessive deafness 4" NARROW [OMIM:600791] xref: DOID:0110498 {source="MONDO:equivalentTo"} xref: MESH:C566366 {source="MONDO:equivalentTo"} xref: OMIM:600791 {source="MONDO:equivalentTo", source="DOID:0110498"} is_a: MONDO:0019588 {source="DC-OMIM:600791", source="DOID:0110498", source="MONDO:Redundant", source="OMIM:600791"} ! hearing loss, autosomal recessive property_value: exactMatch DOID:0110498 property_value: exactMatch http://identifiers.org/mesh/C566366 property_value: exactMatch https://omim.org/entry/600791 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/551 xsd:anyURI [Term] id: MONDO:0010938 name: T-B+ severe combined immunodeficiency due to JAK3 deficiency def: "Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." [Orphanet:35078] subset: ordo_disease {source="Orphanet:35078"} synonym: "SCID, autosomal recessive, T-negative/B-positive type" EXACT [OMIM:600802, OMIM:genemap2] synonym: "SCID, T cell-negative, B cell-positive, NK cell-negative" RELATED [OMIM:600802] synonym: "severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency" RELATED [] synonym: "severe combined immunodeficiency, autosomal recessive, T cell-NEGATIVE, B cell-POSITIVE, NK cell-NEGATIVE" RELATED [OMIM:600802] synonym: "T-B+ SCID due to JAK3 deficiency" EXACT [Orphanet:35078] synonym: "T-B+ severe combined immunodeficiency due to JAK3 deficiency" EXACT [] synonym: "T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency" EXACT [] xref: MESH:C563440 {source="MONDO:equivalentTo"} xref: OMIM:600802 {source="Orphanet:35078/e", source="MONDO:equivalentTo", source="Orphanet:35078"} xref: Orphanet:35078 {source="MONDO:equivalentTo", source="OMIM:600802"} xref: SCTID:718107000 {source="MONDO:equivalentTo"} xref: UMLS:C1833275 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:600802"} xref: UMLS:C4273742 {source="MONDO:equivalentTo"} is_a: MONDO:0031520 {source="OMIM:600802"} ! familial severe combined immunodeficiency is_a: MONDO:0044200 {source="Orphanet:35078", source="PMID:31953710"} ! T-B+ severe combined immunodeficiency property_value: exactMatch http://identifiers.org/mesh/C563440 property_value: exactMatch http://identifiers.org/snomedct/718107000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833275 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4273742 property_value: exactMatch https://omim.org/entry/600802 property_value: exactMatch Orphanet:35078 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010939 name: low phospholipid associated cholelithiasis def: "Low phospholipid associated cholelithiasis is a rare genetic hepatic disease characterized by cholesterol gallstones and intrahepatic stones developing before the age of 40 years." [Orphanet:69663] subset: ordo_disease {source="Orphanet:69663"} synonym: "ABCB4 gene mutation-associated cholelithiasis" EXACT [Orphanet:69663] synonym: "cholelithiasis with ABCB4 gene mutation" EXACT [Orphanet:69663] synonym: "cholelithiasis, Low phospholipid-associated" RELATED [OMIM:600803] synonym: "gallbladder disease 1" RELATED [MONDO:Lexical, OMIM:600803] synonym: "gallbladder disease type 1" EXACT [MONDORULE:1, OMIM:600803] synonym: "GBD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600803] synonym: "LPAC" EXACT ABBREVIATION [Orphanet:69663] xref: MedDRA:10068936 {source="Orphanet:69663/e", source="Orphanet:69663"} xref: OMIM:600803 {source="Orphanet:69663/e", source="MONDO:equivalentTo", source="Orphanet:69663"} xref: Orphanet:69663 {source="MONDO:equivalentTo", source="OMIM:600803"} xref: SCTID:715577009 {source="MONDO:equivalentTo"} xref: UMLS:C2609268 {source="Orphanet:69663/e", source="MONDO:equivalentTo", source="OMIM:600803", source="Orphanet:69663"} is_a: MONDO:0004789 ! cholangitis is_a: MONDO:0015509 {source="Orphanet:69663"} ! hereditary biliary tract disease is_a: MONDO:0700225 ! hereditary gallbladder disorder property_value: closeMatch http://identifiers.org/meddra/10068936 property_value: exactMatch http://identifiers.org/snomedct/715577009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2609268 property_value: exactMatch https://omim.org/entry/600803 property_value: exactMatch Orphanet:69663 [Term] id: MONDO:0010940 name: inherited susceptibility to asthma subset: predisposition synonym: "asthma, bronchial" RELATED [OMIM:600807] synonym: "asthma, diminished response to Antileukotriene treatment 1N" RELATED [OMIM:600807] synonym: "asthma, nocturnal, susceptibility to" EXACT [OMIM:600807, OMIM:genemap2] synonym: "asthma, protection against" RELATED [OMIM:600807] synonym: "asthma, susceptibility to" RELATED [OMIM:600807] synonym: "asthma-related traits, susceptibility to" RELATED [OMIM:600807] xref: OMIM:600807 {source="MONDO:equivalentTo"} is_a: MONDO:0020573 ! inherited disease susceptibility intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: predisposes_towards MONDO:0004979 ! asthma relationship: predisposes_towards MONDO:0004979 ! asthma property_value: exactMatch https://omim.org/entry/600807 property_value: excluded_subClassOf MONDO:0003847 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010949 name: Charcot-Marie-Tooth disease type 2B def: "Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood." [Orphanet:99936] subset: gard_rare {source="GARD:0009192"} subset: ordo_disease {source="Orphanet:99936"} synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2B" EXACT [DOID:0110159] synonym: "Charcot Marie Tooth disease type 2B" RELATED [GARD:0009192] synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in RAB7A" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, autosomal dominant, type 2B" RELATED [OMIM:600882] synonym: "Charcot-Marie-Tooth disease, axonal, type 2B" RELATED [GARD:0009192, MONDO:Lexical, OMIM:600882] synonym: "Charcot-Marie-Tooth disease, neuronal, type 2B" RELATED [GARD:0009192] synonym: "Charcot-Marie-Tooth disease, type 2B" EXACT [OMIM:600882, OMIM:genemap2] synonym: "Charcot-Marie-Tooth neuropathy type 2B" EXACT [DOID:0110159] synonym: "Charcot-Marie-Tooth neuropathy, type 2B" RELATED [OMIM:600882] synonym: "CMT 2B" RELATED [GARD:0009192] synonym: "CMT2B" EXACT ABBREVIATION [DOID:0110159, MONDO:Lexical, OMIM:600882, Orphanet:99936] synonym: "hereditary motor and sensory neuropathy 2 B (HMSN 2 B)" RELATED [GARD:0009192] synonym: "hereditary motor and sensory neuropathy 2B" RELATED [OMIM:600882] synonym: "hereditary motor and sensory nueropathy IIB" EXACT [DOID:0110159] synonym: "HMSN IIB" EXACT [DOID:0110159] synonym: "HMSN2B" EXACT ABBREVIATION [DOID:0110159, OMIM:600882] synonym: "peripheral sensory neuropathy, autosomal dominant (PSN)" RELATED [GARD:0009192] synonym: "RAB7A Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110159 {source="MONDO:equivalentTo"} xref: MESH:C537989 {source="MONDO:equivalentTo"} xref: OMIM:600882 {source="DOID:0110159", source="MONDO:equivalentTo", source="Orphanet:99936", source="Orphanet:99936/e"} xref: Orphanet:99936 {source="DOID:0110159", source="OMIM:600882", source="MONDO:equivalentTo"} xref: SCTID:717008005 {source="MONDO:equivalentTo"} xref: UMLS:C1833219 {source="OMIM:600882", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:99936"} is_a: MONDO:0018993 {source="DOID:0110159", source="MONDO:Redundant", source="Orphanet:99936"} ! Charcot-Marie-Tooth disease type 2 property_value: exactMatch DOID:0110159 property_value: exactMatch http://identifiers.org/mesh/C537989 property_value: exactMatch http://identifiers.org/snomedct/717008005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833219 property_value: exactMatch https://omim.org/entry/600882 property_value: exactMatch Orphanet:99936 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9192/charcot-marie-tooth-disease-type-2b xsd:anyURI {source="GARD:0009192"} [Term] id: MONDO:0010952 name: hereditary hyperferritinemia with congenital cataracts def: "Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload." [Orphanet:163] subset: ordo_disease {source="Orphanet:163"} synonym: "Bonneau-Beaumont syndrome" EXACT [Orphanet:163] synonym: "cataract-hyperferritinemia syndrome" RELATED [GARD:0002806] synonym: "hereditary hyperferritinemia cataract syndrome" RELATED [GARD:0002806] synonym: "hereditary hyperferritinemia-cataract syndrome" EXACT [Orphanet:163] synonym: "HHCS" EXACT ABBREVIATION [Orphanet:163] synonym: "HRFTC" RELATED ABBREVIATION [OMIM:600886] synonym: "hyperferritinemia cataract syndrome" RELATED [GARD:0002806] synonym: "hyperferritinemia with or without cataract" RELATED [OMIM:600886] synonym: "hyperferritinemia, hereditary, with congenital cataracts" RELATED [OMIM:600886] synonym: "hyperferritinemia-cataract syndrome" RELATED [OMIM:600886] xref: DOID:0111256 {source="MONDO:equivalentTo"} xref: ICD9:289.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:366.44 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538137 {source="Orphanet:163/e", source="MONDO:equivalentTo", source="Orphanet:163"} xref: OMIM:600886 {source="Orphanet:163/e", source="MONDO:equivalentTo", source="Orphanet:163"} xref: Orphanet:163 {source="MONDO:equivalentTo", source="OMIM:600886"} xref: SCTID:702398007 {source="MONDO:equivalentTo"} xref: UMLS:C1833213 {source="Orphanet:163/e", source="MONDO:equivalentTo", source="OMIM:600886", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:163"} is_a: EFO:0003966 ! eye disease relationship: has_characteristic MONDO:0021136 ! rare relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch DOID:0111256 property_value: exactMatch http://identifiers.org/mesh/C538137 property_value: exactMatch http://identifiers.org/snomedct/702398007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833213 property_value: exactMatch https://omim.org/entry/600886 property_value: exactMatch Orphanet:163 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0010953 name: Fanconi anemia complementation group E def: "Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2." [NCIT:C125709] synonym: "face" EXACT [DOID:0111084, OMIM:600901] synonym: "FANCE" EXACT ABBREVIATION [DOID:0111084, MONDO:Lexical, OMIM:600901] synonym: "FANCE Fanconi anaemia" EXACT OMO:0003005 [] synonym: "FANCE Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Fanconi anaemia caused by mutation in FANCE" EXACT OMO:0003005 [] synonym: "Fanconi anaemia complementation group type E" EXACT OMO:0003005 [] synonym: "Fanconi anemia caused by mutation in FANCE" EXACT [MONDO:design_pattern] synonym: "Fanconi anemia complementation group E" EXACT [] synonym: "Fanconi anemia complementation group type E" EXACT [DOID:0111084, MONDORULE:1] synonym: "Fanconi anemia, complementation group E" RELATED [MONDO:Lexical, OMIM:600901] synonym: "Fanconi Anemia, complementation group type E" EXACT [MONDORULE:1, OMIM:600901] xref: DOID:0111084 {source="MONDO:equivalentTo"} xref: NCIT:C125709 {source="MONDO:equivalentTo"} xref: OMIM:600901 {source="MONDO:equivalentTo", source="DOID:0111084"} xref: UMLS:C3160739 {source="NCIT:C125709", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:600901"} is_a: MONDO:0019391 {source="DC-OMIM:600901", source="DOID:0111084", source="MONDO:Redundant", source="NCIT:C125709", source="OMIM:600901"} ! Fanconi anemia property_value: exactMatch DOID:0111084 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3160739 property_value: exactMatch https://omim.org/entry/600901 property_value: exactMatch NCIT:C125709 [Term] id: MONDO:0010959 name: van den Ende-Gupta syndrome def: "Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features." [Orphanet:2460] subset: ordo_malformation_syndrome {source="Orphanet:2460"} synonym: "blepharophimosis, arachnodactyly, and congenital contractures" RELATED [OMIM:600920] synonym: "Marden Walker like syndrome" RELATED [GARD:0003382] synonym: "Marden Walker like syndrome without psychomotor retardation" RELATED [GARD:0003382] synonym: "Marden-Walker-like syndrome" EXACT [Orphanet:2460] synonym: "Marden-Walker-like syndrome without psychomotor retardation" RELATED [OMIM:600920] synonym: "Van den Ende Gupta syndrome" RELATED [GARD:0003382] synonym: "VAN DEN Ende-Gupta syndrome" RELATED [OMIM:600920] synonym: "van den Ende-Gupta syndrome" EXACT [MONDO:Lexical, OMIM:600920] synonym: "VDEGS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600920, Orphanet:2460] xref: DOID:0111699 {source="MONDO:equivalentTo"} xref: MESH:C535909 {source="MONDO:equivalentTo"} xref: OMIM:600920 {source="Orphanet:2460/e", source="MONDO:equivalentTo", source="Orphanet:2460"} xref: Orphanet:2460 {source="MONDO:equivalentTo", source="OMIM:600920"} xref: SCTID:719845008 {source="MONDO:equivalentTo"} xref: UMLS:C1833136 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:600920", source="Orphanet:2460"} is_a: MONDO:0015161 {source="Orphanet:2460"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015168 {source="Orphanet:2460"} ! arthrogryposis multiplex congenita property_value: exactMatch DOID:0111699 property_value: exactMatch http://identifiers.org/mesh/C535909 property_value: exactMatch http://identifiers.org/snomedct/719845008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833136 property_value: exactMatch https://omim.org/entry/600920 property_value: exactMatch Orphanet:2460 property_value: excluded_subClassOf MONDO:0015501 {source="Orphanet:2460"} [Term] id: MONDO:0010961 name: obesity due to prohormone convertase I deficiency def: "Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterized by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones." [Orphanet:71528] subset: ordo_disease {source="Orphanet:71528"} synonym: "obesity and endocrinopathy due to impaired processing of prohormones" RELATED [OMIM:600955] synonym: "obesity with impaired prohormone processing" EXACT [OMIM:600955, OMIM:genemap2] synonym: "PCI deficiency" EXACT [Orphanet:71528] synonym: "proprotein convertase 1/3 deficiency" RELATED [OMIM:600955] xref: DOID:0111698 {source="MONDO:equivalentTo"} xref: MESH:C563423 {source="MONDO:equivalentTo"} xref: OMIM:600955 {source="Orphanet:71528/e", source="MONDO:equivalentTo", source="Orphanet:71528"} xref: Orphanet:71528 {source="MONDO:equivalentTo", source="OMIM:600955"} xref: SCTID:722053001 {source="MONDO:equivalentTo"} xref: UMLS:C1833053 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:600955"} xref: UMLS:C4302878 {source="MONDO:equivalentTo"} is_a: MONDO:0016553 ! isolated congenital hypogonadotropic hypogonadism is_a: MONDO:0020075 ! hereditary non-syndromic obesity property_value: exactMatch DOID:0111698 property_value: exactMatch http://identifiers.org/mesh/C563423 property_value: exactMatch http://identifiers.org/snomedct/722053001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833053 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4302878 property_value: exactMatch https://omim.org/entry/600955 property_value: exactMatch Orphanet:71528 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010966 name: achondrogenesis type IB def: "Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." [Orphanet:93298] subset: ordo_clinical_subtype {source="Orphanet:93298"} synonym: "ACG1B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600972] synonym: "achondrogenesis Fraccaro type" EXACT [DOID:0080055] synonym: "achondrogenesis Ib" EXACT [OMIM:600972, OMIM:genemap2] synonym: "achondrogenesis type 1B" RELATED [Orphanet:93298] synonym: "achondrogenesis type IB" EXACT [] synonym: "achondrogenesis, Fraccaro type" RELATED [OMIM:600972] synonym: "achondrogenesis, Parenti-Fraccaro type" EXACT [Orphanet:93298] synonym: "achondrogenesis, type 1B" RELATED [OMIM:600972] synonym: "achondrogenesis, type IB" RELATED [MONDO:Lexical, OMIM:600972] synonym: "Fraccaro achondrogenesis" RELATED [GARD:0000460] xref: DOID:0080055 {source="MONDO:equivalentTo"} xref: OMIM:600972 {source="DOID:0080055", source="Orphanet:93298", source="MONDO:equivalentTo", source="Orphanet:93298/e"} xref: Orphanet:93298 {source="OMIM:600972", source="MONDO:equivalentTo"} is_a: MONDO:0019648 {source="DC-OMIM:600972", source="DOID:0080055", source="OMIM:600972", source="Orphanet:93298"} ! achondrogenesis is_a: MONDO:0019688 {source="Orphanet:93298", source="PMID:31633310"} ! sulfation-related bone disorder property_value: exactMatch DOID:0080055 property_value: exactMatch https://omim.org/entry/600972 property_value: exactMatch Orphanet:93298 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0010967 name: autosomal recessive nonsyndromic hearing loss 7 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive deafness 7" NARROW [DOID:0110520] synonym: "autosomal recessive nonsyndromic deafness 7" NARROW [OMIM:600974] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TMC1" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 7" NARROW [DOID:0110520, MONDORULE:1] synonym: "deafness, autosomal recessive 11" NARROW [OMIM:600974] synonym: "deafness, autosomal recessive 7" NARROW [MONDO:Lexical, OMIM:600974, OMIM:genemap2] synonym: "deafness, autosomal recessive type 7" NARROW [MONDORULE:1, OMIM:600974] synonym: "DFNB11" NARROW ABBREVIATION [DOID:0110520] synonym: "DFNB7" NARROW ABBREVIATION [DOID:0110520, MONDO:Lexical, OMIM:600974] synonym: "TMC1 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110520 {source="MONDO:equivalentTo"} xref: MESH:C563417 {source="MONDO:equivalentTo"} xref: OMIM:600974 {source="MONDO:equivalentTo", source="DOID:0110520"} xref: UMLS:C1832978 {source="MONDO:equivalentTo", source="OMIM:600974", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019588 {source="DC-OMIM:600974", source="DOID:0110520", source="MONDO:Redundant", source="OMIM:600974"} ! hearing loss, autosomal recessive property_value: exactMatch DOID:0110520 property_value: exactMatch http://identifiers.org/mesh/C563417 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832978 property_value: exactMatch https://omim.org/entry/600974 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/551 xsd:anyURI [Term] id: MONDO:0010971 name: infundibulopelvic stenosis-multicystic kidney syndrome def: "Infundibulopelvic stenosis-multicystic kidney syndrome is a rare, genetic renal malformation syndrome characterized by variable degrees of malformation in the pelvicalyceal system (including unilateral or bilateral calyceal dilatation, infundibular stenosis, hypoplasia or stenosis of the renal pelvis) which lead to multicystic kidney. Clinically it exhibits abdominal, lumbar or flank pain, recurrent urinary tract infections, hypertension, proteinuria and often progresses to renal insufficiency. Calyceal dilatation and hydronephrosis are frequently seen on imaging." [Orphanet:1849] subset: ordo_malformation_syndrome {source="Orphanet:1849"} synonym: "infundibulopelvic dysgenesis" RELATED [OMIM:600989] xref: MESH:C535528 {source="MONDO:equivalentTo"} xref: OMIM:600989 {source="Orphanet:1849/e", source="MONDO:equivalentTo", source="Orphanet:1849"} xref: Orphanet:1849 {source="MONDO:equivalentObsolete", source="OMIM:600989"} xref: SCTID:725905005 {source="MONDO:equivalentTo"} xref: UMLS:C1832949 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:600989", source="Orphanet:1849"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: exactMatch http://identifiers.org/mesh/C535528 property_value: exactMatch http://identifiers.org/snomedct/725905005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832949 property_value: exactMatch https://omim.org/entry/600989 [Term] id: MONDO:0010972 name: hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome def: "This syndrome is characterized principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present." [Orphanet:2180] subset: ordo_malformation_syndrome {source="Orphanet:2180"} synonym: "Ferlini-Ragno-Calzolari syndrome" EXACT [Orphanet:2180] synonym: "hydrocephalus, costovertebral dysplasia, and Sprengel anomaly" RELATED [GARD:0005518] synonym: "hydrocephalus, skeletal anomalies, and mental disturbance" RELATED [GARD:0005518] synonym: "hydrocephalus, Sprengel anomaly, and costovertebral dysplasia" RELATED [OMIM:600991] synonym: "Waaler-Aarskog syndrome" EXACT [Orphanet:2180] xref: MESH:C536461 {source="MONDO:equivalentTo"} xref: OMIM:600991 {source="MONDO:equivalentTo", source="Orphanet:2180", source="Orphanet:2180/e"} xref: Orphanet:2180 {source="OMIM:600991", source="MONDO:equivalentTo"} xref: SCTID:721229003 {source="MONDO:equivalentTo"} is_a: MONDO:0015160 {source="Orphanet:2180"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C536461 property_value: exactMatch http://identifiers.org/snomedct/721229003 property_value: exactMatch https://omim.org/entry/600991 property_value: exactMatch Orphanet:2180 [Term] id: MONDO:0010976 name: epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive def: "A basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering." [https://orcid.org/0000-0001-5208-3432, Orphanet:89838] subset: ordo_disease {source="Orphanet:89838"} synonym: "EBS, autosomal recessive K14" EXACT [Orphanet:89838] synonym: "EBS-AR KRT14" EXACT [Orphanet:89838] synonym: "EBSB1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601001] synonym: "epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive" EXACT [OMIM:601001, OMIM:genemap2] synonym: "epidermolysis bullosa simplex, autosomal recessive 1" RELATED [MONDO:Lexical, OMIM:601001] synonym: "epidermolysis bullosa simplex, autosomal recessive K14" RELATED [Orphanet:89838] synonym: "epidermolysis bullosa simplex, autosomal recessive type 1" EXACT [MONDORULE:1, OMIM:601001] synonym: "KRT14-related autosomal recessive EBS" EXACT [Orphanet:89838] synonym: "KRT14-related autosomal recessive epidermolysis bullosa simplex" EXACT [Orphanet:89838] synonym: "KRT14-related epidermolysis bullosa simplex" EXACT [Orphanet:89838] xref: MESH:C563408 {source="MONDO:equivalentTo"} xref: OMIM:601001 {source="MONDO:equivalentTo", source="Orphanet:89838", source="Orphanet:89838/e"} xref: Orphanet:89838 {source="OMIM:601001", source="MONDO:equivalentTo"} is_a: MONDO:0017610 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex property_value: exactMatch http://identifiers.org/mesh/C563408 property_value: exactMatch https://omim.org/entry/601001 property_value: exactMatch Orphanet:89838 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4499 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010977 name: Brody myopathy def: "Brody myopathy is a hereditary condition that affects the skeletal muscles (muscles used for movement). Symptoms typically begin in childhood and are characterized by muscle cramping and stiffening (myopathy) after exercise or other strenuous activity. These symptoms can worsen in cold temperatures and are usually painless, however, some individuals may have mild discomfort. Some cases of Brody myopathy are caused by mutations in the ATP2A1 gene. The cause of Brody myopathy for individuals not found to have an ATP2A1 gene mutation remains unknown. Brody myopathy is usually inherited in an autosomal recessive manner with a few reported cases of autosomal dominant inheritance. While there is no one treatment for Brody myopathy, certain muscle relaxants, such as dantrolene and blood pressure medications called calcium channel blockers, such as verapamil may be useful. Some researchers suggest that individuals found to have an ATP2A1 gene mutation have a slightly different disorder in which symptoms appear at an earlier age. They use the disease term 'Brody disease' for individuals with an identifiedmutation versus 'Brody syndrome' for those that do not. More research may help clarify whether these are two different disorders or a variation of the same disorder." [https://rarediseases.info.nih.gov/diseases/9158/brody-myopathy] subset: gard_rare {source="GARD:0009158"} subset: ordo_disease {source="Orphanet:53347"} synonym: "Brody disease" RELATED [GARD:0009158] synonym: "Brody myopathy" EXACT [OMIM:601003] synonym: "sarcoplasmic reticulum -Ca2+ATPase deficiency" RELATED [GARD:0009158] xref: DOID:0050692 {source="MONDO:equivalentTo"} xref: ICD9:359.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536607 {source="Orphanet:53347", source="MONDO:equivalentTo", source="Orphanet:53347/e"} xref: OMIM:601003 {source="Orphanet:53347", source="MONDO:equivalentTo", source="Orphanet:53347/e", source="DOID:0050692"} xref: Orphanet:53347 {source="OMIM:601003", source="MONDO:equivalentTo"} xref: SCTID:703530005 {source="MONDO:equivalentTo"} xref: UMLS:C1832918 {source="OMIM:601003", source="Orphanet:53347", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:53347/e"} is_a: EFO:0004145 {source="https://orcid.org/0000-0001-5208-3432"} ! myopathy is_a: MONDO:0016199 {source="Orphanet:53347", source="https://orcid.org/0000-0001-5208-3432"} ! qualitative or quantitative defects of protein SERCA1 property_value: exactMatch DOID:0050692 property_value: exactMatch http://identifiers.org/mesh/C536607 property_value: exactMatch http://identifiers.org/snomedct/703530005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832918 property_value: exactMatch https://omim.org/entry/601003 property_value: exactMatch Orphanet:53347 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9158/brody-myopathy xsd:anyURI {source="GARD:0009158"} [Term] id: MONDO:0010979 name: Timothy syndrome def: "Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders." [Orphanet:65283] subset: gard_rare {source="GARD:0009294"} subset: ordo_clinical_subtype {source="Orphanet:65283"} synonym: "long QT syndrome 8" RELATED [OMIM:601005] synonym: "long QT syndrome type 8" RELATED [Orphanet:65283] synonym: "long QT syndrome with syndactyly" RELATED [OMIM:601005] synonym: "long QT syndrome-syndactyly syndrome" EXACT [Orphanet:65283] synonym: "LQT8" RELATED ABBREVIATION [Orphanet:65283] synonym: "TIMOTHY syndrome" EXACT [OMIM:601005] synonym: "Timothy syndrome" EXACT [MONDO:Lexical, OMIM:601005] synonym: "TS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601005] xref: DOID:0060173 {source="MONDO:equivalentTo"} xref: MESH:C536962 {source="Orphanet:65283/e", source="MONDO:equivalentTo", source="Orphanet:65283"} xref: NCIT:C142894 {source="MONDO:equivalentTo"} xref: OMIM:601005 {source="Orphanet:65283/e", source="MONDO:equivalentTo", source="Orphanet:65283", source="DOID:0060173"} xref: Orphanet:65283 {source="OMIM:601005", source="MONDO:equivalentTo", source="DOID:0060173"} xref: UMLS:C1832916 {source="Orphanet:65283/e", source="OMIM:601005", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:65283"} is_a: MONDO:0000426 {source="DOID:0060173", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0019171 ! familial long QT syndrome relationship: disease_has_feature EFO:0004287 {source="MONDO:Wikidata"} ! ventricular fibrillation relationship: disease_has_feature MONDO:0000992 {source="MONDO:Wikidata"} ! heart conduction disease property_value: exactMatch DOID:0060173 property_value: exactMatch http://identifiers.org/mesh/C536962 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832916 property_value: exactMatch https://omim.org/entry/601005 property_value: exactMatch NCIT:C142894 property_value: exactMatch Orphanet:65283 property_value: excluded_subClassOf MONDO:0019171 {source="MONDO:Redundant", source="OMIM:601005", source="Orphanet:65283"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9294/timothy-syndrome xsd:anyURI {source="GARD:0009294"} [Term] id: MONDO:0010981 name: absent tibia-polydactyly-arachnoid cyst syndrome def: "Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia." [Orphanet:3328] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:3328"} synonym: "absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies" RELATED [GARD:0005210] synonym: "Holmes Collins syndrome" RELATED [GARD:0005210] synonym: "Holmes-Collins syndrome" EXACT [Orphanet:3328] synonym: "tibia absent polydactyly arachnoid cyst" RELATED [GARD:0005210] synonym: "tibia, absence or hypoplasia of, with polydactyly, RETROCEREBELLAR arachnoid cyst, and other anomalies" RELATED [OMIM:601027] synonym: "tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies" RELATED [GARD:0005210] xref: MESH:C563403 {source="MONDO:equivalentTo"} xref: OMIM:601027 {source="MONDO:equivalentTo", source="Orphanet:3328", source="GARD:0005210", source="Orphanet:3328/e"} xref: Orphanet:3328 {source="OMIM:601027", source="MONDO:equivalentTo", source="GARD:0005210"} xref: SCTID:733068001 {source="MONDO:equivalentTo"} is_a: MONDO:0015161 {source="Orphanet:3328"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0019054 ! congenital limb malformation property_value: exactMatch http://identifiers.org/mesh/C563403 property_value: exactMatch http://identifiers.org/snomedct/733068001 property_value: exactMatch https://omim.org/entry/601027 property_value: exactMatch Orphanet:3328 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5210/tibia-absent-polydactyly-arachnoid-cyst xsd:anyURI {source="GARD:0005210"} [Term] id: MONDO:0010983 name: dystonia 9 def: "A dystonia characterized by autosomal dominant inheritance of paroxysmal choreoathetosis and progressive spastic paraplegia, episodes are often precipitated by alcohol, fatigue, or emotional stress that has material basis in heterozygous mutation in the SLC2A1 gene on chromosome 1p34." [DOID:0090044] subset: ordo_disease {source="Orphanet:53583"} synonym: "choreoathetosis, kinesigenic, with episodic ataxia and spasticity" RELATED [OMIM:601042] synonym: "choreoathetosis/spasticity, episodic" RELATED [OMIM:601042] synonym: "Cse choreoathetosis, paroxysmal, with episodic ataxia" RELATED [OMIM:601042] synonym: "dystonia 9" EXACT [MONDO:Lexical, OMIM:601042] synonym: "dystonia type 9" EXACT [DOID:0090044, MONDORULE:1, OMIM:601042] synonym: "DYT9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601042, Orphanet:53583] synonym: "episodic choreoathetosis/spasticity" EXACT [Orphanet:53583] synonym: "paroxysmal dystonic choreathetosis with episodic ataxia and spasticity" RELATED [Orphanet:53583] xref: DOID:0090044 {source="MONDO:equivalentTo"} xref: MESH:C563401 {source="MONDO:equivalentTo"} xref: OMIM:601042 {source="DOID:0090044", source="Orphanet:53583/e", source="MONDO:equivalentTo", source="Orphanet:53583"} xref: Orphanet:53583 {source="DOID:0090044", source="MONDO:equivalentTo", source="OMIM:601042"} xref: SCTID:715564000 {source="MONDO:equivalentTo"} xref: UMLS:C1832855 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:601042", source="Orphanet:53583"} is_a: MONDO:0016058 {source="Orphanet:53583"} ! paroxysmal dystonia is_a: MONDO:0017706 {source="PMID:33340416"} ! disorder of carbohydrate transmembrane transport and absorption property_value: exactMatch DOID:0090044 property_value: exactMatch http://identifiers.org/mesh/C563401 property_value: exactMatch http://identifiers.org/snomedct/715564000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832855 property_value: exactMatch https://omim.org/entry/601042 property_value: exactMatch Orphanet:53583 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0010986 name: autosomal recessive nonsyndromic hearing loss 9 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOF gene." [MONDO:patterns/disease_series_by_gene] synonym: "auditory neuropathy, autosomal recessive, 1" NARROW [OMIM:601071, OMIM:genemap2] synonym: "auditory neuropathy, nonsyndromic recessive" NARROW [OMIM:601071] synonym: "autosomal recessive deafness 9" NARROW [DOID:0110535] synonym: "autosomal recessive nonsyndromic deafness 9" NARROW [OMIM:601071] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in OTOF" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 9" NARROW [DOID:0110535, MONDORULE:1] synonym: "deafness, autosomal recessive 9" NARROW [MONDO:Lexical, OMIM:601071, OMIM:genemap2] synonym: "deafness, autosomal recessive type 9" NARROW [MONDORULE:1, OMIM:601071] synonym: "DFNB9" NARROW ABBREVIATION [DOID:0110535, MONDO:Lexical, OMIM:601071] synonym: "neurosensory nonsyndromic recessive deafness 9" NARROW [DOID:0110535, OMIM:601071] synonym: "NRSD9" NARROW ABBREVIATION [DOID:0110535] synonym: "OTOF autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110535 {source="MONDO:equivalentTo"} xref: OMIM:601071 {source="DOID:0110535", source="MONDO:equivalentTo"} is_a: MONDO:0019588 {source="DC-OMIM:601071", source="DOID:0110535", source="MONDO:Redundant", source="OMIM:601071"} ! hearing loss, autosomal recessive is_a: MONDO:0021944 {source="OMIM:601071"} ! auditory neuropathy property_value: exactMatch DOID:0110535 property_value: exactMatch https://omim.org/entry/601071 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/551 xsd:anyURI [Term] id: MONDO:0010988 name: aplasia cutis-myopia syndrome def: "Aplasia cutis-myopia syndrome is characterized by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant." [Orphanet:1117] subset: gard_rare subset: ordo_disease {source="Orphanet:1117"} synonym: "aplasia cutis congenita, high myopia, and cone-rod dysfunction" RELATED [OMIM:601075] synonym: "aplasia cutis myopia" EXACT [MONDO:0021910] synonym: "Gershoni-Baruch-Leibo syndrome" EXACT [Orphanet:1117] xref: MESH:C563394 {source="MONDO:equivalentTo"} xref: OMIM:601075 {source="MONDO:equivalentTo", source="Orphanet:1117", source="Orphanet:1117/e"} xref: Orphanet:1117 {source="MONDO:equivalentTo", source="OMIM:601075"} xref: SCTID:720499004 {source="MONDO:equivalentTo"} is_a: MONDO:0007145 {source="GARD:0000756", source="MONDO:0021910"} ! aplasia cutis congenita property_value: exactMatch http://identifiers.org/mesh/C563394 property_value: exactMatch http://identifiers.org/snomedct/720499004 property_value: exactMatch https://omim.org/entry/601075 property_value: exactMatch Orphanet:1117 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/756/aplasia-cutis-myopia xsd:anyURI {source="GARD:0000756"} [Term] id: MONDO:0010989 name: Mayer-Rokitansky-Küster-Hauser syndrome type 2 def: "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome, is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MCllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used." [Orphanet:2578] subset: ordo_clinical_subtype {source="Orphanet:2578"} synonym: "atypical MRKH syndrome" EXACT [Orphanet:2578] synonym: "Klippel-Feil deformity, conductive deafness, and absent vagina" RELATED [OMIM:601076] synonym: "Mayer-Rokitansky-Kuster-Hauser syndrome, type 2" RELATED [OMIM:601076] synonym: "Mayer-Rokitansky-Küster-Hauser syndrome type 2" EXACT [Orphanet:2578] synonym: "MRKH syndrome type 2" EXACT [Orphanet:2578] synonym: "MRKH, type 2" RELATED [OMIM:601076] synonym: "MULLERIAN duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies" RELATED [MONDO:Lexical, OMIM:601076] synonym: "Mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome" EXACT [Orphanet:2578] synonym: "MURCS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601076] synonym: "MURCS association" EXACT [Orphanet:2578] synonym: "Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome" EXACT [Orphanet:2578] xref: DOID:0112179 {source="MONDO:equivalentTo"} xref: OMIM:601076 {source="MONDO:equivalentTo", source="Orphanet:2578", source="Orphanet:2578/e"} xref: Orphanet:2578 {source="MONDO:equivalentTo", source="OMIM:601076"} xref: SCTID:717705004 {source="MONDO:equivalentTo"} is_a: MONDO:0015246 {source="Orphanet:2578"} ! syndromic anorectal malformation is_a: MONDO:0017771 {source="Orphanet:2578"} ! Mayer-Rokitansky-Kuster-Hauser syndrome relationship: disease_has_feature MONDO:0001029 ! Klippel-Feil syndrome property_value: exactMatch DOID:0112179 property_value: exactMatch http://identifiers.org/snomedct/717705004 property_value: exactMatch https://omim.org/entry/601076 property_value: exactMatch Orphanet:2578 [Term] id: MONDO:0010993 name: Harrod syndrome def: "Harrod syndrome is characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive." [Orphanet:2115] subset: ordo_malformation_syndrome {source="Orphanet:2115"} synonym: "cranio-facio-digito-genital syndrome" EXACT [Orphanet:2115] synonym: "craniofacial digital genital anomalies" RELATED [GARD:0002601] synonym: "Harrod Doman Keele syndrome" RELATED [GARD:0002601] synonym: "Harrod syndrome" EXACT [OMIM:601095] xref: MESH:C535635 {source="MONDO:equivalentTo"} xref: OMIM:601095 {source="Orphanet:2115", source="MONDO:equivalentTo", source="Orphanet:2115/e"} xref: Orphanet:2115 {source="MONDO:equivalentTo", source="OMIM:601095"} xref: SCTID:716089008 {source="MONDO:equivalentTo"} xref: UMLS:C0795970 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:601095"} is_a: MONDO:0015159 {source="Orphanet:2115"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C535635 property_value: exactMatch http://identifiers.org/snomedct/716089008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795970 property_value: exactMatch https://omim.org/entry/601095 property_value: exactMatch Orphanet:2115 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2115"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0010994 name: obsolete micromelic dwarfism, Fryns type comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none subset: ordo_disease {source="Orphanet:2641"} synonym: "dwarfism, micromelic, with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects" RELATED [OMIM:601096] synonym: "micromelic dwarfism with cone epiphyses, metaphyseal dysplasia and vertebral segmentation defects" RELATED [GARD:0003642] synonym: "SEMD, micromelic" RELATED [OMIM:601096] synonym: "spondyloepimetaphyseal dysplasia micromelic" RELATED [GARD:0003642] synonym: "spondyloepimetaphyseal dysplasia, micromelic" RELATED [OMIM:601096] xref: MESH:C537556 {source="Orphanet:2641", source="MONDO:obsoleteEquivalent", source="Orphanet:2641/e"} xref: OMIM:601096 {source="Orphanet:2641", source="MONDO:obsoleteEquivalent", source="Orphanet:2641/e"} xref: Orphanet:2641 {source="OMIM:601096", source="MONDO:obsoleteEquivalentObsolete"} xref: SCTID:715479009 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C1832800 {source="Orphanet:2641", source="MONDO:obsoleteEquivalent", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2641/e", source="OMIM:601096"} property_value: exactMatch http://identifiers.org/mesh/C537556 property_value: exactMatch http://identifiers.org/snomedct/715479009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832800 property_value: exactMatch https://omim.org/entry/601096 property_value: exactMatch Orphanet:2641 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3637 xsd:anyURI is_obsolete: true [Term] id: MONDO:0010995 name: Charcot-Marie-Tooth disease type 1C def: "Any Charcot-Marie-Tooth disease type 1 in which the cause of the disease is a mutation in the LITAF gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0001247"} subset: ordo_disease {source="Orphanet:101083"} synonym: "Charcot Marie Tooth disease type 1C" RELATED [GARD:0001247] synonym: "Charcot-Marie-Tooth disease type 1 caused by mutation in LITAF" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1C" RELATED [GARD:0001247, MONDO:Lexical, OMIM:601098] synonym: "Charcot-Marie-Tooth disease, type 1C" EXACT [OMIM:601098, OMIM:genemap2] synonym: "Charcot-Marie-Tooth neuropathy type 1C" EXACT [DOID:0110151] synonym: "Charcot-Marie-Tooth neuropathy, type 1C" RELATED [OMIM:601098] synonym: "CMT 1C" RELATED [GARD:0001247] synonym: "CMT slow nerve conduction type C" EXACT [DOID:0110151] synonym: "CMT, slow nerve conduction type C" RELATED [OMIM:601098] synonym: "CMT1C" EXACT ABBREVIATION [DOID:0110151, MONDO:Lexical, OMIM:601098, Orphanet:101083] synonym: "HMSN 1C" RELATED [OMIM:601098] synonym: "HMSN IC" EXACT [DOID:0110151] synonym: "HMSN1C" EXACT ABBREVIATION [DOID:0110151] synonym: "LITAF Charcot-Marie-Tooth disease type 1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "neuropathy hereditary motor and sensory type 1C" EXACT [DOID:0110151] synonym: "neuropathy, hereditary motor and sensory, type 1C" RELATED [OMIM:601098] xref: DOID:0110151 {source="MONDO:equivalentTo"} xref: MESH:C537984 {source="Orphanet:101083/e", source="MONDO:equivalentTo", source="Orphanet:101083"} xref: OMIM:601098 {source="Orphanet:101083/e", source="MONDO:equivalentTo", source="DOID:0110151", source="Orphanet:101083"} xref: Orphanet:101083 {source="MONDO:equivalentTo", source="DOID:0110151", source="OMIM:601098"} xref: UMLS:C0270913 {source="Orphanet:101083/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:101083", source="OMIM:601098"} is_a: MONDO:0019011 {source="DOID:0110151", source="MONDO:Redundant", source="Orphanet:101083"} ! Charcot-Marie-Tooth disease type 1 property_value: exactMatch DOID:0110151 property_value: exactMatch http://identifiers.org/mesh/C537984 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270913 property_value: exactMatch https://omim.org/entry/601098 property_value: exactMatch Orphanet:101083 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1247/charcot-marie-tooth-disease-type-1c xsd:anyURI {source="GARD:0001247"} [Term] id: MONDO:0010997 name: supranuclear palsy, progressive, 1 def: "Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." [Orphanet:240071] subset: ordo_clinical_subtype {source="Orphanet:240071"} synonym: "classic progressive supranuclear palsy syndrome" EXACT [Orphanet:240071] synonym: "classic PSP syndrome" EXACT [Orphanet:240071] synonym: "PSNP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601104] synonym: "PSP" EXACT ABBREVIATION [OMIM:601104] synonym: "Richardson syndrome" EXACT [Orphanet:240071] synonym: "Steele-Richardson-Olszewski disease" EXACT [Orphanet:240071] synonym: "Steele-Richardson-Olszewski syndrome" EXACT [OMIM:601104] synonym: "supranuclear palsy, progressive" EXACT [OMIM:601104, OMIM:genemap2] synonym: "supranuclear palsy, progressive, 1" EXACT [MONDO:Lexical, OMIM:601104] synonym: "supranuclear palsy, progressive, type 1" EXACT [MONDORULE:1, OMIM:601104] xref: OMIM:601104 {source="Orphanet:240071/e", source="MONDO:equivalentTo", source="Orphanet:240071"} xref: Orphanet:240071 {source="OMIM:601104", source="MONDO:equivalentTo"} xref: UMLS:CN201679 {source="MONDO:equivalentTo"} is_a: MONDO:0019037 {source="DC-OMIM:601104", source="Orphanet:240071"} ! progressive supranuclear palsy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201679 property_value: exactMatch https://omim.org/entry/601104 property_value: exactMatch Orphanet:240071 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0010998 name: ALG3-congenital disorder of glycosylation def: "A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene ALG3 (3q27.3)." [Orphanet:79321] subset: ordo_disease {source="Orphanet:79321"} synonym: "ALG3-CDG" EXACT ABBREVIATION [Orphanet:79321] synonym: "ALG3-CDG (CDG-Id)" RELATED [GARD:0009827] synonym: "ALG3-congenital disorder of glycosylation" EXACT [] synonym: "carbohydrate deficient glycoprotein syndrome type Id" EXACT [Orphanet:79321] synonym: "carbohydrate-deficient glycoprotein syndrome type IV (formerly)" RELATED [GARD:0009827] synonym: "carbohydrate-deficient glycoprotein syndrome, type IV" RELATED [OMIM:601110] synonym: "carbohydrate-deficient glycoprotein syndrome, type IV, formerly" RELATED [OMIM:601110] synonym: "CDG 1D" RELATED [GARD:0009827] synonym: "CDG Id" RELATED [OMIM:601110] synonym: "CDG syndrome type Id" EXACT [Orphanet:79321] synonym: "CDG-Id" EXACT [Orphanet:79321] synonym: "CDG1D" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601110, Orphanet:79321] synonym: "CDGId" EXACT [NCIT:C126870] synonym: "CDGS, type IV" RELATED [OMIM:601110] synonym: "CDGS, type IV, formerly" RELATED [OMIM:601110] synonym: "CDGS4 (formerly)" RELATED [GARD:0009827] synonym: "congenital disorder of glycosylation type 1d" EXACT [Orphanet:79321] synonym: "congenital disorder of glycosylation type Id" EXACT [Orphanet:79321] synonym: "congenital disorder of glycosylation, type Id" RELATED [MONDO:Lexical, OMIM:601110] synonym: "mannosyltransferase 6 deficiency" EXACT [Orphanet:79321] xref: DOID:0080556 {source="MONDO:equivalentTo"} xref: MESH:C535742 {source="MONDO:equivalentTo"} xref: NCIT:C126870 {source="MONDO:equivalentTo"} xref: OMIM:601110 {source="Orphanet:79321/e", source="MONDO:equivalentTo", source="Orphanet:79321"} xref: Orphanet:79321 {source="OMIM:601110", source="MONDO:equivalentTo"} xref: SCTID:720976009 {source="MONDO:equivalentTo"} xref: UMLS:C1832736 {source="OMIM:601110", source="NCIT:C126870", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:79321"} is_a: EFO:0005545 {source="DC-OMIM:601110"} ! congenital disorder of glycosylation type I is_a: MONDO:0017740 {source="Orphanet:79321"} ! disorder of protein N-glycosylation property_value: exactMatch DOID:0080556 property_value: exactMatch http://identifiers.org/mesh/C535742 property_value: exactMatch http://identifiers.org/snomedct/720976009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832736 property_value: exactMatch https://omim.org/entry/601110 property_value: exactMatch NCIT:C126870 property_value: exactMatch Orphanet:79321 [Term] id: MONDO:0010999 name: fallot complex-intellectual disability-growth delay syndrome def: "Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay." [Orphanet:3304] subset: ordo_malformation_syndrome {source="Orphanet:3304"} synonym: "Bindewald Ulmer Muller syndrome" RELATED [GARD:0000893] synonym: "Bindewald-Ulmer-Müller syndrome" EXACT [Orphanet:3304] synonym: "FALLOT complex with severe mental and growth retardation" RELATED [OMIM:601127] xref: MESH:C536608 {source="MONDO:equivalentTo"} xref: OMIM:601127 {source="MONDO:equivalentTo", source="Orphanet:3304", source="Orphanet:3304/e"} xref: Orphanet:3304 {source="MONDO:equivalentTo", source="OMIM:601127"} xref: SCTID:723336008 {source="MONDO:equivalentTo"} xref: UMLS:C1832735 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:601127", source="Orphanet:3304"} is_a: MONDO:0015159 {source="Orphanet:3304"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C536608 property_value: exactMatch http://identifiers.org/snomedct/723336008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832735 property_value: exactMatch https://omim.org/entry/601127 property_value: exactMatch Orphanet:3304 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3304"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0011004 name: lissencephaly type 3-metacarpal bone dysplasia syndrome def: "This syndrome is characterized by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and fetal akinesia sequence." [Orphanet:86822] subset: ordo_malformation_syndrome {source="Orphanet:86822"} synonym: "lissencephaly type 3 and bone dysplasia" RELATED [OMIM:601160] synonym: "lissencephaly type III and bone dysplasia" RELATED [OMIM:601160] xref: MESH:C563383 {source="MONDO:equivalentTo"} xref: OMIM:601160 {source="MONDO:equivalentTo", source="Orphanet:86822", source="Orphanet:86822/e"} xref: Orphanet:86822 {source="MONDO:equivalentTo", source="OMIM:601160"} xref: SCTID:718720007 {source="MONDO:equivalentTo"} xref: UMLS:C1832678 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:601160"} is_a: MONDO:0015148 {source="Orphanet:86822"} ! lissencephaly type 3 property_value: exactMatch http://identifiers.org/mesh/C563383 property_value: exactMatch http://identifiers.org/snomedct/718720007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832678 property_value: exactMatch https://omim.org/entry/601160 property_value: exactMatch Orphanet:86822 [Term] id: MONDO:0011007 name: diaphragmatic defect-limb deficiency-skull defect syndrome def: "This syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations. It has been reported only once in four successive fetuses (two females and two males) born to a nonconsanguineous couple. The spectrum of malformations is wide and includes, besides diaphragmatic hernia and hypoplastic lungs (present in the four fetuses), omphalocele (one case), severe limb hypoplasia (two cases), syndactyly of the toes (two cases), extra spleen (one case), and an ossification defect of the skull (one case). Inheritance seems either to be autosomal recessive or due to a gonadal mosaicism in one parent. Prenatal diagnosis of diaphragmatic hernia and severe lung hypoplasia detected on ultrasonography made the parents opt for termination of the four pregnancies." [GARD:0002397] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2141"} synonym: "diaphragmatic defect limb deficiency skull defect" RELATED [GARD:0002397] synonym: "diaphragmatic defects, limb deficiencies, and ossification defects of skull" RELATED [OMIM:601163] synonym: "froster syndrome" RELATED [OMIM:601163] synonym: "froster-Huch syndrome" EXACT [Orphanet:2141] xref: MESH:C563380 {source="MONDO:equivalentTo"} xref: OMIM:601163 {source="GARD:0002397", source="Orphanet:2141/e", source="MONDO:equivalentTo", source="Orphanet:2141"} xref: Orphanet:2141 {source="GARD:0002397", source="MONDO:equivalentTo", source="OMIM:601163"} xref: SCTID:721095007 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDO:indirect"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:2141"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C563380 property_value: exactMatch http://identifiers.org/snomedct/721095007 property_value: exactMatch https://omim.org/entry/601163 property_value: exactMatch Orphanet:2141 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2397/froster-huch-syndrome xsd:anyURI {source="GARD:0002397"} [Term] id: MONDO:0011008 name: cleft lip/palate-intestinal malrotation-cardiopathy syndrome def: "Cleft lip/palate - intestinal malrotation - cardiopathy is a multiple congenital anomaly syndrome described in 5 patients to date, characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects which were lethal in 3 of the 5 patients reported. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs were reported in individual cases. There have been no further descriptions in the literature since 1997." [Orphanet:2001] subset: ordo_malformation_syndrome {source="Orphanet:2001"} synonym: "cleft lip, cleft palate, characteristic facies, intestinal malrotation, and lethal congenital heart disease" RELATED [GARD:0003430] synonym: "cleft LIP/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease" RELATED [OMIM:601165] synonym: "McPherson Clemens syndrome" RELATED [GARD:0003430] synonym: "McPherson-Clemens syndrome" EXACT [Orphanet:2001] xref: MESH:C538160 {source="MONDO:equivalentTo"} xref: OMIM:601165 {source="Orphanet:2001", source="MONDO:equivalentTo", source="Orphanet:2001/e"} xref: Orphanet:2001 {source="OMIM:601165", source="MONDO:equivalentTo"} xref: SCTID:719456001 {source="MONDO:equivalentTo"} xref: UMLS:C2931750 {source="Orphanet:2001", source="OMIM:601165", source="MONDO:equivalentTo", source="Orphanet:2001/e"} is_a: MONDO:0015161 {source="Orphanet:2001"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability property_value: exactMatch http://identifiers.org/mesh/C538160 property_value: exactMatch http://identifiers.org/snomedct/719456001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931750 property_value: exactMatch https://omim.org/entry/601165 property_value: exactMatch Orphanet:2001 [Term] id: MONDO:0011010 name: Matthew-Wood syndrome def: "Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia." [Orphanet:2470] subset: ordo_malformation_syndrome {source="Orphanet:2470"} synonym: "anophthalmia, clinical, with mild Facial Dysmorphism and variable malformations of the lung, heart, and diaphragm" RELATED [OMIM:601186] synonym: "anophthalmia-pulmonary hypoplasia syndrome" EXACT [Orphanet:2470] synonym: "anophthalmia/microphthalmia and pulmonary hypoplasia" RELATED [OMIM:601186] synonym: "clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations" RELATED [GARD:0000713] synonym: "Matthew Wood syndrome" RELATED [GARD:0000713] synonym: "Matthew-Wood syndrome" EXACT [OMIM:601186] synonym: "MCOPS9" EXACT ABBREVIATION [DOID:0050819, MONDO:Lexical, OMIM:601186, Orphanet:2470] synonym: "microphthalmia syndromic 9" RELATED [GARD:0000713] synonym: "microphthalmia syndromic type 9" EXACT [DOID:0050819] synonym: "microphthalmia, isolated, with coloboma 8" RELATED [OMIM:601186] synonym: "microphthalmia, syndromic 9" RELATED [MONDO:Lexical, OMIM:601186] synonym: "microphthalmia, syndromic type 9" EXACT [MONDORULE:1, OMIM:601186] synonym: "pulmonary agenesis microphthalmi and diaphragmatic defect" RELATED [GARD:0000713] synonym: "pulmonary agenesis, microphthalmia, and diaphragmatic defect" RELATED [OMIM:601186] synonym: "pulmonary Hypoplasia-diaphragmatic hernia-anophthalmia-Cardiac defect" RELATED [OMIM:601186] synonym: "spear syndrome" RELATED [OMIM:601186] synonym: "syndromic microphthalmia type 9" EXACT [Orphanet:2470] xref: DOID:0050819 {source="MONDO:equivalentObsolete"} xref: DOID:0111807 {source="MONDO:equivalentTo"} xref: MESH:C537768 {source="MONDO:equivalentTo"} xref: OMIM:601186 {source="DOID:0050819", source="Orphanet:2470/e", source="MONDO:equivalentTo", source="Orphanet:2470"} xref: Orphanet:2470 {source="MONDO:equivalentTo", source="OMIM:601186"} xref: Orphanet:98938 {source="MONDO:relatedTo", source="OMIM:601186"} xref: SCTID:722458000 {source="MONDO:equivalentTo"} xref: UMLS:C1832661 {source="Orphanet:2470/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2470", source="OMIM:601186"} is_a: MONDO:0015161 {source="Orphanet:2470"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015222 {source="MONDO:Redundant", source="Orphanet:2470"} ! syndromic respiratory or mediastinal malformation is_a: MONDO:0015929 {source="Orphanet:2470"} ! thoracic malformation is_a: MONDO:0015930 {source="Orphanet:2470"} ! respiratory malformation is_a: MONDO:0016073 {source="OMIM:601186", source="Orphanet:2470"} ! syndromic microphthalmia property_value: exactMatch DOID:0111807 property_value: exactMatch http://identifiers.org/mesh/C537768 property_value: exactMatch http://identifiers.org/snomedct/722458000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832661 property_value: exactMatch https://omim.org/entry/601186 property_value: exactMatch Orphanet:2470 property_value: excluded_subClassOf MONDO:0015221 {source="Orphanet:2470"} [Term] id: MONDO:0011011 name: skeletal dysplasia-epilepsy-short stature syndrome def: "Skeletal dysplasia-epilepsy-short stature syndrome is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. It has been described in seven patients. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait." [Orphanet:1858] subset: ordo_malformation_syndrome {source="Orphanet:1858"} synonym: "GURRIERI syndrome" RELATED [OMIM:601187] synonym: "Gurrieri-Sammito-Bellussi syndrome" EXACT [Orphanet:1858] synonym: "intellectual disability, epilepsy, short stature and skeletal dysplasia" RELATED [GARD:0000350] synonym: "mental retardation, epilepsy, short stature and skeletal dysplasia" RELATED DEPRECATED [GARD:0000350] xref: MESH:C537625 {source="MONDO:equivalentTo"} xref: OMIM:601187 {source="Orphanet:1858/e", source="MONDO:equivalentTo", source="Orphanet:1858"} xref: Orphanet:1858 {source="OMIM:601187", source="MONDO:equivalentTo"} xref: SCTID:715428003 {source="MONDO:equivalentTo"} xref: UMLS:C0796046 {source="OMIM:601187", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1858"} is_a: MONDO:0018454 ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation property_value: exactMatch http://identifiers.org/mesh/C537625 property_value: exactMatch http://identifiers.org/snomedct/715428003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796046 property_value: exactMatch https://omim.org/entry/601187 property_value: exactMatch Orphanet:1858 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:1858"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0011012 name: African iron overload def: "African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis." [Orphanet:139507] subset: ordo_disease {source="Orphanet:139507"} synonym: "African iron overload" EXACT [OMIM:601195] synonym: "Bantu siderosis" EXACT [DOID:0111033, OMIM:601195, Orphanet:139507] synonym: "hereditary iron overload and African Americans" RELATED [GARD:0008495] synonym: "iron overload in Africa" EXACT [DOID:0111033, OMIM:601195] xref: DOID:0111033 {source="MONDO:equivalentTo"} xref: MESH:C537904 {source="MONDO:equivalentTo"} xref: OMIM:601195 {source="MONDO:equivalentTo", source="Orphanet:139507", source="DOID:0111033", source="Orphanet:139507/e"} xref: Orphanet:139507 {source="MONDO:equivalentTo", source="DOID:0111033", source="OMIM:601195"} xref: SCTID:66576001 {source="MONDO:equivalentTo"} is_a: MONDO:0006507 {source="DOID:0111033", source="MONDO:Redundant", source="OMIM:601195"} ! hereditary hemochromatosis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare property_value: exactMatch DOID:0111033 property_value: exactMatch http://identifiers.org/mesh/C537904 property_value: exactMatch http://identifiers.org/snomedct/66576001 property_value: exactMatch https://omim.org/entry/601195 property_value: exactMatch Orphanet:139507 [Term] id: MONDO:0011013 name: autosomal dominant hypocalcemia 1 def: "Any autosomal dominant hypocalcemia in which the cause of the disease is a mutation in the CASR gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant hypocalcemia caused by mutation in CASR" EXACT [MONDO:design_pattern] synonym: "autosomal dominant hypocalcemia type 1" EXACT [DOID:0090107, MONDORULE:1] synonym: "CASR autosomal dominant hypocalcemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hypercalciuric hypocalcemia" RELATED [OMIM:601198] synonym: "HYPOC1" EXACT ABBREVIATION [DOID:0090107, MONDO:Lexical, OMIM:601198] synonym: "hypocalcemia, autosomal dominant" BROAD [OMIM:601198, OMIM:genemap2] synonym: "hypocalcemia, autosomal dominant 1" RELATED [MONDO:Lexical, OMIM:601198] synonym: "hypocalcemia, autosomal dominant 1, with Bartter syndrome" RELATED [OMIM:601198] synonym: "hypocalcemia, autosomal dominant type 1" EXACT [MONDORULE:1, OMIM:601198] synonym: "hypocalcemia, autosomal dominant, with Bartter syndrome" EXACT [OMIM:601198, OMIM:genemap2] synonym: "hypocalcemia, familial" RELATED [OMIM:601198] xref: DOID:0090107 {source="MONDO:equivalentTo"} xref: OMIM:601198 {source="MONDO:equivalentTo", source="DOID:0090107"} xref: Orphanet:112 {source="OMIM:601198", source="MONDO:relatedTo"} xref: Orphanet:263417 {source="OMIM:601198", source="MONDO:relatedTo"} xref: UMLS:C3715128 {source="OMIM:601198", source="MONDO:relatedTo"} is_a: MONDO:0018543 {source="DOID:0090107", source="MONDO:Redundant", source="OMIM:601198"} ! autosomal dominant hypocalcemia property_value: exactMatch DOID:0090107 property_value: exactMatch https://omim.org/entry/601198 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: relatedMatch Orphanet:263417 [Term] id: MONDO:0011017 name: Naxos disease def: "A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma." [https://orcid.org/0000-0001-5208-3432, Orphanet:34217] subset: gard_rare {source="GARD:0009795"} subset: ordo_disease {source="Orphanet:34217"} synonym: "cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities" RELATED [OMIM:601214] synonym: "keratoderma with woolly hair type I" EXACT OMO:0003005 [] synonym: "keratoderma with wooly hair type I" EXACT [Orphanet:34217] synonym: "keratosis palmoplantaris arrythmogenic cardiomyopathy woolly hair" RELATED OMO:0003005 [] synonym: "keratosis palmoplantaris arrythmogenic cardiomyopathy wooly hair" RELATED [GARD:0009795] synonym: "keratosis palmoplantaris with arrhythmogenic cardiomyopathy" RELATED [OMIM:601214] synonym: "keratosis palmoplantaris with arrythmogenic cardiomyopathy" EXACT [Orphanet:34217] synonym: "KWWH type I" EXACT [Orphanet:34217] synonym: "Mal De Naxos" RELATED [OMIM:601214] synonym: "NAXOS disease" EXACT [OMIM:601214] synonym: "Naxos disease" EXACT [MONDO:Lexical, OMIM:601214] synonym: "NXD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601214] synonym: "palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy" EXACT [Orphanet:34217] synonym: "palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair" RELATED OMO:0003005 [] synonym: "palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and wooly hair" RELATED [OMIM:601214] synonym: "palmoplantar keratoderma with arrythmogenic cardiomyopathy" EXACT [Orphanet:34217] synonym: "woolly hair palmoplantar keratoderma cardiac abnormalities" RELATED OMO:0003005 [] synonym: "woolly hair, palmoplantar keratoderma, and Cardiac abnormalities" RELATED OMO:0003005 [] synonym: "wooly hair palmoplantar keratoderma cardiac abnormalities" RELATED [GARD:0009795] synonym: "wooly hair, palmoplantar keratoderma, and Cardiac abnormalities" RELATED [OMIM:601214] xref: DOID:0080551 {source="MONDO:equivalentTo"} xref: MESH:C538346 {source="Orphanet:34217", source="MONDO:equivalentTo", source="Orphanet:34217/e"} xref: OMIM:601214 {source="Orphanet:34217", source="MONDO:equivalentTo", source="Orphanet:34217/e"} xref: Orphanet:34217 {source="OMIM:601214", source="MONDO:equivalentTo"} xref: SCTID:715535009 {source="MONDO:equivalentTo"} xref: UMLS:C1832600 {source="Orphanet:34217", source="OMIM:601214", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:34217/e"} is_a: EFO:0002945 ! familial cardiomyopathy is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0016587 {source="MESH:C538346", source="Orphanet:34217"} ! arrhythmogenic right ventricular cardiomyopathy is_a: MONDO:0100080 {source="https://orcid.org/0000-0002-6733-369X"} ! cardioectodermal syndrome property_value: exactMatch DOID:0080551 property_value: exactMatch http://identifiers.org/mesh/C538346 property_value: exactMatch http://identifiers.org/snomedct/715535009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832600 property_value: exactMatch https://omim.org/entry/601214 property_value: exactMatch Orphanet:34217 property_value: excluded_subClassOf MONDO:0017666 {source="MONDO:0017671-obsoleted"} property_value: excluded_subClassOf MONDO:0019282 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9795/naxos-disease xsd:anyURI {source="GARD:0009795"} [Term] id: MONDO:0011018 name: brachyolmia-amelogenesis imperfecta syndrome def: "An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition." [Orphanet:2899] subset: ordo_malformation_syndrome {source="Orphanet:2899"} synonym: "amelogenesis imperfecta and platyspondyly" RELATED [GARD:0005478] synonym: "DASS" EXACT ABBREVIATION [DOID:0090143, MONDO:Lexical, OMIM:601216] synonym: "dental anomalies and short stature" EXACT [DOID:0090143, MONDO:Lexical, OMIM:601216] synonym: "platyspondyly with amelogenesis imperfecta" EXACT [DOID:0090143, OMIM:601216] synonym: "platyspondyly-amelogenesis imperfecta syndrome" EXACT [Orphanet:2899] synonym: "selective tooth agenesis 5" EXACT [DOID:0090143] synonym: "skeletal dysplasia with amelogenesis imperfecta and platyspondyly" RELATED [GARD:0005478] synonym: "STHAG6" EXACT ABBREVIATION [DOID:0090143] synonym: "tooth agenesis, selective, 6" EXACT [OMIM:601216] synonym: "tooth agenesis, selective, 6, formerly" RELATED [OMIM:601216] synonym: "Verloes Bourguignon syndrome" RELATED [GARD:0005478] synonym: "Verloes-Bourguignon syndrome" EXACT [Orphanet:2899] xref: DOID:0090143 {source="MONDO:equivalentTo"} xref: OMIM:601216 {source="DOID:0090143", source="MONDO:equivalentTo", source="Orphanet:2899", source="Orphanet:2899/e"} xref: Orphanet:2899 {source="DOID:0090143", source="MONDO:equivalentTo", source="OMIM:601216"} xref: SCTID:716195006 {source="MONDO:equivalentTo"} is_a: MONDO:0016761 {source="PMID:31633310"} ! spondyloepiphyseal dysplasia property_value: exactMatch DOID:0090143 property_value: exactMatch http://identifiers.org/snomedct/716195006 property_value: exactMatch https://omim.org/entry/601216 property_value: exactMatch Orphanet:2899 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0011019 name: alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome def: "This syndrome is characterized by the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism." [Orphanet:1014] subset: ordo_disease {source="Orphanet:1014"} synonym: "alopecia-intellectual disability syndrome with convulsions and hypergonadotropic hypogonadism" RELATED [OMIM:601217] synonym: "alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism" RELATED DEPRECATED [OMIM:601217] synonym: "Devriendt-Vandenberghe-Fryns syndrome" EXACT [Orphanet:1014] xref: MESH:C563370 {source="MONDO:equivalentTo"} xref: OMIM:601217 {source="Orphanet:1014", source="MONDO:equivalentTo", source="Orphanet:1014/e"} xref: Orphanet:1014 {source="MONDO:equivalentTo", source="OMIM:601217"} xref: SCTID:720981000 {source="MONDO:equivalentTo"} is_a: MONDO:0004907 {source="MESH:C563370", source="Orphanet:1014"} ! alopecia property_value: exactMatch http://identifiers.org/mesh/C563370 property_value: exactMatch http://identifiers.org/snomedct/720981000 property_value: exactMatch https://omim.org/entry/601217 property_value: exactMatch Orphanet:1014 [Term] id: MONDO:0011020 name: osteoporosis-oculocutaneous hypopigmentation syndrome def: "Osteoporosis-oculocutaneous hypopigmentation syndrome is characterized by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive." [Orphanet:2786] subset: gard_rare {source="GARD:0000404"} subset: ordo_malformation_syndrome {source="Orphanet:2786"} synonym: "Hernández-Fragoso syndrome" EXACT [Orphanet:2786] synonym: "OOCH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601220] synonym: "OOCH syndrome" RELATED [GARD:0000404] synonym: "OOCHS" EXACT ABBREVIATION [Orphanet:2786] synonym: "osteoporosis and oculocutaneous hypopigmentation syndrome" RELATED [MONDO:Lexical, OMIM:601220] synonym: "osteoporosis oculocutaneous hypopigmentation syndrome" RELATED [GARD:0000404] xref: MESH:C536062 {source="MONDO:equivalentTo"} xref: OMIM:601220 {source="Orphanet:2786", source="MONDO:equivalentTo", source="Orphanet:2786/e"} xref: Orphanet:2786 {source="OMIM:601220", source="MONDO:equivalentTo"} xref: SCTID:722113001 {source="MONDO:equivalentTo"} xref: UMLS:C1832592 {source="OMIM:601220", source="Orphanet:2786", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2786/e"} is_a: EFO:0000508 {source="OMIM:601220"} ! genetic disorder is_a: EFO:0009676 {source="GARD:0000404"} ! musculoskeletal system disease property_value: exactMatch http://identifiers.org/mesh/C536062 property_value: exactMatch http://identifiers.org/snomedct/722113001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832592 property_value: exactMatch https://omim.org/entry/601220 property_value: exactMatch Orphanet:2786 property_value: excluded_subClassOf MONDO:0019704 {source="Orphanet:2786"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/404/osteoporosis-oculocutaneous-hypopigmentation-syndrome xsd:anyURI {source="GARD:0000404"} [Term] id: MONDO:0011022 name: Potocki-Shaffer syndrome def: "Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2)." [Orphanet:52022] subset: ordo_malformation_syndrome {source="Orphanet:52022"} synonym: "11p11.2 deletion" EXACT [Orphanet:52022] synonym: "chromosome 11P11.2 deletion syndrome" RELATED [OMIM:601224] synonym: "Defect11 syndrome" RELATED [OMIM:601224] synonym: "deletion of chromosome 11p11.2" RELATED [GARD:0009762] synonym: "Potocki-Shaffer syndrome" EXACT [OMIM:601224] synonym: "proximal 11P deletion syndrome" RELATED [OMIM:601224] synonym: "proximal 11p deletion syndrome" EXACT [Orphanet:52022] synonym: "PSS" RELATED ABBREVIATION [OMIM:601224] xref: DECIPHER:34 {source="MONDO:equivalentTo"} xref: DOID:0111687 {source="MONDO:equivalentTo"} xref: ICD9:758.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538356 {source="Orphanet:52022/e", source="MONDO:equivalentTo", source="Orphanet:52022"} xref: NCIT:C75456 {source="MONDO:equivalentTo"} xref: OMIM:601224 {source="Orphanet:52022/e", source="MONDO:equivalentTo", source="Orphanet:52022"} xref: Orphanet:52022 {source="OMIM:601224", source="MONDO:equivalentTo"} xref: SCTID:702346005 {source="MONDO:equivalentTo"} xref: UMLS:C1832588 {source="Orphanet:52022/e", source="OMIM:601224", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C75456", source="Orphanet:52022"} is_a: MONDO:0002254 {source="NCIT:C75456"} ! syndromic disease is_a: MONDO:0015160 {source="Orphanet:52022"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0016893 {source="Orphanet:52022"} ! partial deletion of the short arm of chromosome 11 property_value: exactMatch DOID:0111687 property_value: exactMatch http://identifiers.org/mesh/C538356 property_value: exactMatch http://identifiers.org/snomedct/702346005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832588 property_value: exactMatch https://omim.org/entry/601224 property_value: exactMatch NCIT:C75456 property_value: exactMatch Orphanet:52022 [Term] id: MONDO:0011023 name: hereditary mixed polyposis syndrome def: "Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated." [Orphanet:157794] subset: ordo_disease {source="Orphanet:157794"} synonym: "hereditary mixed polyposis syndrome" EXACT [] synonym: "HMPS" EXACT ABBREVIATION [Orphanet:157794] xref: DOID:0111684 {source="MONDO:equivalentTo"} xref: MESH:C563365 {source="MONDO:equivalentTo"} xref: OMIMPS:601228 {source="MONDO:equivalentTo"} xref: Orphanet:157794 {source="MONDO:equivalentTo"} xref: UMLS:CN240759 {source="MONDO:equivalentTo"} is_a: MONDO:0015185 {source="Orphanet:157794"} ! intestinal polyposis syndrome is_a: MONDO:0018188 {source="Orphanet:157794"} ! hereditary intestinal polyposis property_value: exactMatch DOID:0111684 property_value: exactMatch http://identifiers.org/mesh/C563365 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN240759 property_value: exactMatch https://omim.org/phenotypicSeries/PS601228 property_value: exactMatch Orphanet:157794 [Term] id: MONDO:0011024 name: dermatitis herpetiformis, familial def: "Dermatitis herpetiformis is a rare, chronic, skin disorder characterized by groups of severely itchy blisters and raised skin lesions. These are more common on the knees, elbows, buttocks and shoulder blades. The slow onset of symptoms usually begins during adulthood, but children can also be affected. Other symptoms mayinclude fluid-filled sores; red lesions that resemble hives; and itchiness, rednessand burning. The exact cause of this disease is not known,but it is frequently associated with the inability to digest gluten. People with this disease are typically treated with the drug dapsone." [GARD:0001917] subset: gard_rare synonym: "Brocq-Duhring disease" RELATED [GARD:0001917] synonym: "dermatitis herpetiformis, familial" EXACT [OMIM:601230] synonym: "DH" RELATED ABBREVIATION [GARD:0001917, OMIM:601230] synonym: "Duhring Brocq disease" RELATED [GARD:0001917] synonym: "Duhring's disease" RELATED [GARD:0001917] synonym: "hereditary dermatitis herpetiformis" EXACT [MONDO:patterns/hereditary] xref: MESH:C538218 {source="MONDO:equivalentTo"} xref: OMIM:601230 {source="MONDO:equivalentTo", source="GARD:0001917"} xref: UMLS:C1832586 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:601230"} is_a: EFO:1000684 {source="MESH:C538218", source="MONDO:Redundant", source="Orphanet:1656/btnt"} ! dermatitis herpetiformis is_a: MONDO:0100118 ! hereditary skin disorder intersection_of: EFO:1000684 ! dermatitis herpetiformis intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/mesh/C538218 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832586 property_value: exactMatch https://omim.org/entry/601230 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1917/dermatitis-herpetiformis xsd:anyURI {source="GARD:0001917"} [Term] id: MONDO:0011025 name: Cayman type cerebellar ataxia def: "Cerebellar ataxia, Cayman type is characterized by psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia." [Orphanet:94122] subset: ordo_disease {source="Orphanet:94122"} synonym: "ataxia, cerebellar, Cayman type" EXACT [OMIM:601238, OMIM:genemap2] synonym: "ATCAY" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601238] synonym: "Cayman ataxia" EXACT [Orphanet:94122] synonym: "Cayman cerebellar ataxia" EXACT [DOID:0060694] synonym: "Cayman type cerebellar ataxia" EXACT [] synonym: "cerebellar ataxia, CAYMAN type" RELATED [OMIM:601238] synonym: "cerebellar ataxia, Cayman type" RELATED [MONDO:Lexical, OMIM:601238] xref: DOID:0060694 {source="MONDO:equivalentTo"} xref: MESH:C563363 {source="DOID:0060694", source="MONDO:equivalentTo"} xref: OMIM:601238 {source="DOID:0060694", source="Orphanet:94122", source="MONDO:equivalentTo", source="Orphanet:94122/e"} xref: Orphanet:94122 {source="DOID:0060694", source="MONDO:equivalentTo", source="OMIM:601238"} xref: SCTID:717332007 {source="MONDO:equivalentTo"} xref: UMLS:C1832585 {source="Orphanet:94122", source="MONDO:equivalentTo", source="OMIM:601238", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0020043 {source="Orphanet:94122"} ! autosomal recessive congenital cerebellar ataxia property_value: exactMatch DOID:0060694 property_value: exactMatch http://identifiers.org/mesh/C563363 property_value: exactMatch http://identifiers.org/snomedct/717332007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832585 property_value: exactMatch https://omim.org/entry/601238 property_value: exactMatch Orphanet:94122 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011026 name: autosomal recessive congenital ichthyosis 4A def: "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene." [MONDO:patterns/disease_series_by_gene] synonym: "ARCI4A" EXACT ABBREVIATION [DOID:0060712, MONDO:Lexical, OMIM:601277] synonym: "autosomal recessive congenital ichthyosis type 4A" EXACT [DOID:0060712, MONDORULE:4] synonym: "ichthyosis congenita 2B" RELATED [OMIM:601277] synonym: "ichthyosis congenita IIB" EXACT [DOID:0060712] synonym: "ichthyosis lamellar 2" RELATED [GARD:0009733] synonym: "ichthyosis, congenital, autosomal recessive 4A" RELATED [MONDO:Lexical, OMIM:601277] synonym: "ichthyosis, congenital, autosomal recessive type 4A" EXACT [MONDORULE:4, OMIM:601277] synonym: "ichthyosis, lamellar, 2" RELATED [OMIM:601277] synonym: "ichthyosis, lamellar, 2, formerly" RELATED [OMIM:601277] synonym: "ICR2B" EXACT ABBREVIATION [DOID:0060712] synonym: "lamellar ichthyosis 2" EXACT [DOID:0060712] synonym: "lamellar ichthyosis, type 2" RELATED [GARD:0009733] synonym: "LI2" RELATED ABBREVIATION [GARD:0009733] xref: DOID:0060712 {source="MONDO:equivalentTo"} xref: MESH:C537264 {source="MONDO:equivalentTo"} xref: OMIM:601277 {source="MONDO:equivalentTo", source="DOID:0060712"} is_a: MONDO:0017265 {source="MONDO:Redundant", source="OMIM:601277"} ! autosomal recessive congenital ichthyosis is_a: MONDO:0017778 {source="MESH:C537264", source="Orphanet:313/btnt"} ! lamellar ichthyosis property_value: exactMatch DOID:0060712 property_value: exactMatch http://identifiers.org/mesh/C537264 property_value: exactMatch https://omim.org/entry/601277 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0011028 name: autosomal recessive limb-girdle muscular dystrophy type 2F def: "Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal." [Orphanet:219] subset: gard_rare subset: ordo_disease {source="Orphanet:219"} synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCD" EXACT [MONDO:design_pattern] synonym: "delta-sarcoglycanopathy" BROAD [DOID:0110280, Orphanet:219] synonym: "LGMD2F" EXACT ABBREVIATION [DOID:0110280, GARD:0008573, MESH:C535896, MONDO:Lexical, OMIM:601287, Orphanet:219] synonym: "limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency" EXACT [DOID:0110280, Orphanet:219] synonym: "limb-girdle muscular dystrophy type 2F" RELATED [GARD:0008573] synonym: "muscular dystrophy limb-girdle with delta-sarcoglyan deficiency" RELATED [GARD:0008573, MESH:C535896] synonym: "muscular dystrophy, limb-girdle, autosomal recessive 6" EXACT [OMIM:601287, OMIM:genemap2] synonym: "muscular dystrophy, limb-girdle, type 2F" RELATED [MESH:C535896, MONDO:Lexical, OMIM:601287] synonym: "SGCD autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110280 {source="MONDO:equivalentTo"} xref: MESH:C535896 {source="MONDO:equivalentTo"} xref: OMIM:601287 {source="DOID:0110280", source="MONDO:equivalentTo", source="Orphanet:219", source="GARD:0008573", source="Orphanet:219/e"} xref: Orphanet:219 {source="OMIM:601287", source="DOID:0110280", source="MONDO:equivalentTo", source="GARD:0008573"} xref: SCTID:718177001 {source="MONDO:equivalentTo"} is_a: MONDO:0015152 {source="DOID:0110280", source="MONDO:Redundant", source="OMIM:601287", source="Orphanet:219"} ! autosomal recessive limb-girdle muscular dystrophy is_a: MONDO:0016144 {source="Orphanet:219"} ! qualitative or quantitative defects of delta-sarcoglycan is_a: MONDO:0016333 ! familial dilated cardiomyopathy property_value: exactMatch DOID:0110280 property_value: exactMatch http://identifiers.org/mesh/C535896 property_value: exactMatch http://identifiers.org/snomedct/718177001 property_value: exactMatch https://omim.org/entry/601287 property_value: exactMatch Orphanet:219 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8573/limb-girdle-muscular-dystrophy-type-2f xsd:anyURI {source="GARD:0008573"} [Term] id: MONDO:0011034 name: odontomicronychial dysplasia def: "Odontomicronychial dysplasia is a rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails." [Orphanet:1811] subset: gard_rare {source="GARD:0004053"} subset: ordo_malformation_syndrome {source="Orphanet:1811"} synonym: "ectodermal dysplasia, nail/Tooth type" RELATED [OMIM:601319] synonym: "odonto-micronychial dysplasia" RELATED [GARD:0004053] synonym: "odontomicronychial dysplasia" EXACT [OMIM:601319] xref: MESH:C537741 {source="MONDO:equivalentTo", source="Orphanet:1811", source="Orphanet:1811/e"} xref: OMIM:601319 {source="MONDO:equivalentTo", source="Orphanet:1811", source="Orphanet:1811/e"} xref: Orphanet:1811 {source="MONDO:equivalentTo", source="OMIM:601319"} xref: UMLS:C1832473 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1811", source="OMIM:601319", source="Orphanet:1811/e"} is_a: MONDO:0019287 {source="Orphanet:1811", source="https://orcid.org/0000-0001-5208-3432"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C537741 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832473 property_value: exactMatch https://omim.org/entry/601319 property_value: exactMatch Orphanet:1811 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4053/odontomicronychial-dysplasia xsd:anyURI {source="GARD:0004053"} [Term] id: MONDO:0011035 name: neurofibromatosis-Noonan syndrome def: "A RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafC)-au-lait spots are present in patients diagnosed with NS)." [Orphanet:638] subset: gard_rare {source="GARD:0000372"} subset: ordo_malformation_syndrome {source="Orphanet:638"} synonym: "neurofibromatosis type 1-Noonan syndrome" EXACT [Orphanet:638] synonym: "neurofibromatosis with Noonan phenotype" RELATED [OMIM:601321] synonym: "neurofibromatosis-Noonan syndrome" EXACT [MONDO:Lexical, OMIM:601321] synonym: "NFNS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601321, Orphanet:638] synonym: "Noonan neurofibromatosis syndrome" RELATED [GARD:0000372] synonym: "Noonan-neurofibromatosis syndrome" RELATED [OMIM:601321] xref: DOID:0111683 {source="MONDO:equivalentTo"} xref: MESH:C537393 {source="MONDO:equivalentTo", source="Orphanet:638", source="Orphanet:638/e"} xref: MESH:D009456 {source="Orphanet:638", source="Orphanet:638/e", source="MONDO:directSiblingOf"} xref: OMIM:601321 {source="MONDO:equivalentTo", source="Orphanet:638", source="Orphanet:638/e"} xref: Orphanet:638 {source="OMIM:601321", source="MONDO:equivalentTo"} xref: SCTID:715344006 {source="MONDO:equivalentTo"} is_a: EFO:0008514 {source="https://orcid.org/0000-0001-6330-7526"} ! neurofibromatosis is_a: EFO:1001502 {source="MONDO:cjm", source="Orphanet:textdef"} ! rasopathy is_a: MONDO:0019755 ! developmental defect during embryogenesis property_value: exactMatch DOID:0111683 property_value: exactMatch http://identifiers.org/mesh/C537393 property_value: exactMatch http://identifiers.org/snomedct/715344006 property_value: exactMatch https://omim.org/entry/601321 property_value: exactMatch Orphanet:638 property_value: excluded_subClassOf MONDO:0019289 {source="Orphanet:638"} property_value: excluded_subClassOf MONDO:0019300 {source="Orphanet:638"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4374 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5682 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/372/neurofibromatosis-noonan-syndrome xsd:anyURI {source="GARD:0000372"} [Term] id: MONDO:0011038 name: cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome def: "Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements." [Orphanet:1171] subset: ordo_disease {source="Orphanet:1171"} synonym: "CAPOS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601338] synonym: "CAPOS syndrome" EXACT [Orphanet:1171] synonym: "cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss" RELATED [GARD:0001188] synonym: "cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss" RELATED [GARD:0001188] synonym: "cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss" RELATED [MONDO:Lexical, OMIM:601338] xref: MESH:C535351 {source="MONDO:equivalentTo"} xref: OMIM:601338 {source="Orphanet:1171/e", source="MONDO:equivalentTo", source="Orphanet:1171"} xref: Orphanet:1171 {source="MONDO:equivalentTo", source="OMIM:601338"} xref: SCTID:720634003 {source="MONDO:equivalentTo"} is_a: MONDO:0014720 ! autosomal dominant optic atrophy plus syndrome is_a: MONDO:0019792 {source="Orphanet:1171"} ! autosomal dominant cerebellar ataxia type I is_a: MONDO:0700002 ! ATP1A3-associated neurological disorder property_value: exactMatch http://identifiers.org/mesh/C535351 property_value: exactMatch http://identifiers.org/snomedct/720634003 property_value: exactMatch https://omim.org/entry/601338 property_value: exactMatch Orphanet:1171 [Term] id: MONDO:0011041 name: ectodermal dysplasia with natal teeth, Turnpenny type def: "Ectodermal dysplasia with natal teeth, Turnpenny type is characterized by hypo- or oligodontia and acanthosis nigricans. It has been described in four generations of one family. Onset generally occurs during adolescence. Some patients were born with multiple teeth. Hair anomalies (sparse body and scalp hair) were also reported. Inheritance is autosomal dominant." [Orphanet:69083] subset: gard_rare {source="GARD:0010526"} subset: ordo_malformation_syndrome {source="Orphanet:69083"} synonym: "ectodermal dysplasia with natal teeth Turnpenny type" RELATED [GARD:0010526] synonym: "ectodermal dysplasia with natal teeth, Turnpenny type" EXACT [OMIM:601345] synonym: "ectodermal dysplasia, hair/Tooth type" RELATED [OMIM:601345] xref: MESH:C563347 {source="MONDO:equivalentTo"} xref: OMIM:601345 {source="Orphanet:69083", source="MONDO:equivalentTo", source="Orphanet:69083/e"} xref: Orphanet:69083 {source="OMIM:601345", source="MONDO:equivalentTo"} xref: SCTID:715576000 {source="MONDO:equivalentTo"} xref: UMLS:C1832444 {source="OMIM:601345", source="Orphanet:69083", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019287 {source="MESH:C563347", source="Orphanet:69083"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C563347 property_value: exactMatch http://identifiers.org/snomedct/715576000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832444 property_value: exactMatch https://omim.org/entry/601345 property_value: exactMatch Orphanet:69083 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10526/ectodermal-dysplasia-with-natal-teeth-turnpenny-type xsd:anyURI {source="GARD:0010526"} [Term] id: MONDO:0011045 name: MMEP syndrome def: "A congenital syndromic form of split-hand/foot malformation (SHFM). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies." [Orphanet:3434] subset: ordo_malformation_syndrome {source="Orphanet:3434"} synonym: "MCOPS8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601349, Orphanet:3434] synonym: "microcephaly microphthalmia ectrodactyly of lower limbs and prognathism" RELATED [GARD:0003693] synonym: "microcephaly, microphthalmia, ectrodactyly of Lower limbs, and prognathism" RELATED [OMIM:601349] synonym: "microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome" EXACT [Orphanet:3434] synonym: "microphthalmia syndromic 8" RELATED [GARD:0003693] synonym: "microphthalmia, syndromic 8" RELATED [MONDO:Lexical, OMIM:601349] synonym: "MMEP" RELATED ABBREVIATION [GARD:0003693] synonym: "syndromic microphthalmia type 8" EXACT [Orphanet:3434] synonym: "Viljoen Smart syndrome" RELATED [GARD:0003693] synonym: "Viljoen-Smart syndrome" EXACT [Orphanet:3434] xref: DOID:0111803 {source="MONDO:equivalentTo"} xref: MESH:C537686 {source="MONDO:equivalentTo"} xref: OMIM:601349 {source="Orphanet:3434", source="MONDO:equivalentTo", source="Orphanet:3434/e"} xref: Orphanet:3434 {source="MONDO:equivalentTo", source="OMIM:601349"} xref: SCTID:715533002 {source="MONDO:equivalentTo"} xref: UMLS:C1832440 {source="Orphanet:3434", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:601349"} xref: UMLS:C4275099 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:3434"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0016073 {source="DC-OMIM:601349", source="OMIM:601349", source="Orphanet:3434"} ! syndromic microphthalmia property_value: exactMatch DOID:0111803 property_value: exactMatch http://identifiers.org/mesh/C537686 property_value: exactMatch http://identifiers.org/snomedct/715533002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832440 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275099 property_value: exactMatch https://omim.org/entry/601349 property_value: exactMatch Orphanet:3434 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3434"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0011046 name: short stature, Brussels type def: "This syndrome is characterized by short stature presenting in the neonatal period associated with osteochondrodysplastic lesions and facial dysmorphism." [Orphanet:2867] subset: ordo_malformation_syndrome {source="Orphanet:2867"} synonym: "familial short stature with facial dysmorphism and osteochondrodysplastic lesions" RELATED [GARD:0004838] synonym: "Mievis Verellen-Dumoulin syndrome" RELATED [GARD:0004838] synonym: "Mievis-Verellen-Dumoulin syndrome" EXACT [Orphanet:2867] synonym: "short stature syndrome, Brussels type" RELATED [OMIM:601350] xref: MESH:C537121 {source="MONDO:equivalentTo", source="Orphanet:2867", source="Orphanet:2867/e"} xref: OMIM:601350 {source="MONDO:equivalentTo", source="Orphanet:2867", source="Orphanet:2867/e"} xref: Orphanet:2867 {source="MONDO:equivalentTo", source="OMIM:601350"} xref: SCTID:719213009 {source="MONDO:equivalentTo"} xref: UMLS:C1832439 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2867", source="Orphanet:2867/e", source="OMIM:601350"} is_a: EFO:0000508 {source="OMIM:601350"} ! genetic disorder is_a: EFO:0009676 {source="GARD:0004838"} ! musculoskeletal system disease property_value: exactMatch http://identifiers.org/mesh/C537121 property_value: exactMatch http://identifiers.org/snomedct/719213009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832439 property_value: exactMatch https://omim.org/entry/601350 property_value: exactMatch Orphanet:2867 property_value: excluded_subClassOf MONDO:0019708 {source="Orphanet:2867"} [Term] id: MONDO:0011047 name: deafness-epiphyseal dysplasia-short stature syndrome def: "This syndrome is characterized by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit)." [Orphanet:3218] subset: ordo_malformation_syndrome {source="Orphanet:3218"} synonym: "chitty-Hall-Baraitser syndrome" EXACT [Orphanet:3218] synonym: "deafness, epiphyseal dysplasia, short stature" RELATED [GARD:0001688] synonym: "deafness, femoral epiphyseal dysplasia, short stature and developmental delay" RELATED [GARD:0001688] synonym: "growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction" RELATED [OMIM:601351] xref: MESH:C535928 {source="MONDO:equivalentTo"} xref: OMIM:601351 {source="MONDO:equivalentTo", source="Orphanet:3218", source="Orphanet:3218/e"} xref: Orphanet:3218 {source="MONDO:equivalentTo", source="OMIM:601351"} xref: SCTID:716238003 {source="MONDO:equivalentTo"} xref: UMLS:C1832438 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3218", source="OMIM:601351"} is_a: EFO:0000508 {source="Orphanet:3218/inferred"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C535928 property_value: exactMatch http://identifiers.org/snomedct/716238003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832438 property_value: exactMatch https://omim.org/entry/601351 property_value: exactMatch Orphanet:3218 [Term] id: MONDO:0011048 name: epilepsy-microcephaly-skeletal dysplasia syndrome def: "Epilepsy-microcephaly-skeletal dysplasia syndrome is characterized by the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once, in two sibs (one male and one female). This syndrome is likely to be an autosomal recessive condition and thus parents should be informed of a 25% risk of recurrence for other children." [Orphanet:1948] subset: ordo_malformation_syndrome {source="Orphanet:1948"} synonym: "Battaglia-Neri syndrome" EXACT [Orphanet:1948] synonym: "epilepsy - microcephaly - skeletal dysplasia" RELATED [GARD:0000836] synonym: "intellectual disability, microcephaly, epilepsy, and coarse face" RELATED [OMIM:601352] synonym: "mental retardation, microcephaly, epilepsy, and coarse face" RELATED DEPRECATED [OMIM:601352] xref: OMIM:601352 {source="Orphanet:1948/e", source="MONDO:equivalentTo", source="Orphanet:1948"} xref: Orphanet:1948 {source="OMIM:601352", source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:1948"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch https://omim.org/entry/601352 property_value: exactMatch Orphanet:1948 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1948"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0011049 name: Fine-Lubinsky syndrome def: "A syndrome characterized by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies." [Orphanet:1272] subset: gard_rare {source="GARD:0000958"} subset: ordo_malformation_syndrome {source="Orphanet:1272"} synonym: "brachycephaly, deafness, cataract and intellectual disability" RELATED [GARD:0000958] synonym: "brachycephaly, deafness, cataract and mental retardation" RELATED DEPRECATED [GARD:0000958] synonym: "brachycephaly, deafness, cataract, microstomia, and intellectual disability" RELATED [OMIM:601353] synonym: "brachycephaly, deafness, cataract, microstomia, and mental retardation" RELATED DEPRECATED [OMIM:601353] synonym: "brachycephaly-deafness-cataract-intellectual disability syndrome" EXACT [Orphanet:1272] synonym: "fine-Lubinsky syndrome" EXACT [OMIM:601353] xref: MESH:C537933 {source="Orphanet:1272/e", source="MONDO:equivalentTo", source="Orphanet:1272"} xref: OMIM:601353 {source="Orphanet:1272/e", source="MONDO:equivalentTo", source="Orphanet:1272"} xref: Orphanet:1272 {source="OMIM:601353", source="MONDO:equivalentTo"} xref: SCTID:720955004 {source="MONDO:equivalentTo"} xref: UMLS:C0795941 {source="OMIM:601353", source="Orphanet:1272/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1272"} is_a: MONDO:0015159 {source="Orphanet:1272"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C537933 property_value: exactMatch http://identifiers.org/snomedct/720955004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795941 property_value: exactMatch https://omim.org/entry/601353 property_value: exactMatch Orphanet:1272 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1272"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/958/fine-lubinsky-syndrome xsd:anyURI {source="GARD:0000958"} [Term] id: MONDO:0011050 name: microcephaly-cardiac defect-lung malsegmentation syndrome def: "Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate." [Orphanet:2516] subset: ordo_malformation_syndrome {source="Orphanet:2516"} synonym: "Ellis Yale Winter syndrome" RELATED [GARD:0002098] synonym: "Ellis-Yale-Winter syndrome" EXACT [Orphanet:2516] synonym: "microcephaly, congenital heart disease, lung segmentation defects and unilateral renal agenesis" RELATED [GARD:0002098] synonym: "microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs" RELATED [OMIM:601355] xref: MESH:C563341 {source="MONDO:equivalentTo"} xref: OMIM:601355 {source="Orphanet:2516/e", source="MONDO:equivalentTo", source="Orphanet:2516"} xref: Orphanet:2516 {source="OMIM:601355", source="MONDO:equivalentTo"} xref: SCTID:719379001 {source="MONDO:equivalentTo"} is_a: EFO:0003777 {source="MONDO:0015506-obsoleted"} ! heart disease is_a: MONDO:0015161 {source="Orphanet:2516"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C563341 property_value: exactMatch http://identifiers.org/snomedct/719379001 property_value: exactMatch https://omim.org/entry/601355 property_value: exactMatch Orphanet:2516 [Term] id: MONDO:0011053 name: intellectual disability-sparse hair-brachydactyly syndrome def: "Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now." [Orphanet:3051] subset: ordo_malformation_syndrome {source="Orphanet:3051"} synonym: "intellectual disability-sparse hair-brachydactyly syndrome" EXACT [] synonym: "NBs" RELATED [OMIM:601358] synonym: "NCBRS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601358] synonym: "NICOLAIDES-Baraitser syndrome" RELATED [MONDO:Lexical, OMIM:601358] synonym: "Nicolaides-Baraitser syndrome" EXACT [Orphanet:3051] synonym: "SMARCA2-related BAFopathy" EXACT [https://orcid.org/0000-0001-7451-4467, PMID:30580808] synonym: "sparse hair and intellectual disability" RELATED [OMIM:601358] synonym: "sparse hair and mental retardation" RELATED DEPRECATED [OMIM:601358] xref: MESH:C536116 {source="MONDO:equivalentTo"} xref: OMIM:601358 {source="Orphanet:3051/e", source="MONDO:equivalentTo", source="Orphanet:3051"} xref: Orphanet:3051 {source="MONDO:equivalentTo", source="OMIM:601358"} xref: SCTID:401046009 {source="MONDO:equivalentTo"} xref: UMLS:C1303073 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:601358", source="Orphanet:3051"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3051", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:3051"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy property_value: exactMatch http://identifiers.org/mesh/C536116 property_value: exactMatch http://identifiers.org/snomedct/401046009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1303073 property_value: exactMatch https://omim.org/entry/601358 property_value: exactMatch Orphanet:3051 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3939 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0011054 name: autosomal recessive amelia def: "Autosomal recessive amelia is characterized by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three fetuses born to non consanguineous parents." [Orphanet:1027] subset: ordo_malformation_syndrome {source="Orphanet:1027"} synonym: "amelia, autosomal recessive" RELATED [OMIM:601360] synonym: "Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome" EXACT [OMIM:601360, OMIM:genemap2] xref: MESH:C563338 {source="MONDO:equivalentTo"} xref: OMIM:601360 {source="MONDO:equivalentTo", source="Orphanet:1027", source="Orphanet:1027/e"} xref: Orphanet:1027 {source="MONDO:equivalentTo", source="OMIM:601360"} xref: SCTID:726735000 {source="MONDO:equivalentTo"} xref: UMLS:C1832432 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1027", source="OMIM:601360"} is_a: EFO:1000017 {source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation property_value: exactMatch http://identifiers.org/mesh/C563338 property_value: exactMatch http://identifiers.org/snomedct/726735000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832432 property_value: exactMatch https://omim.org/entry/601360 property_value: exactMatch Orphanet:1027 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011055 name: distal monosomy 10p def: "Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13." [Orphanet:1580] subset: ordo_malformation_syndrome {source="Orphanet:1580"} synonym: "10p deletion" RELATED [GARD:0001323] synonym: "10p monosomy" RELATED [GARD:0001323] synonym: "10p13-p14 Deletion syndrome" EXACT [NCIT:C130982] synonym: "chromosome 10p deletion" RELATED [GARD:0001323] synonym: "deletion 10p" RELATED [GARD:0001323] synonym: "Dgs2" RELATED [OMIM:601362] synonym: "DiGeorge syndrome type 2" EXACT [NCIT:C130982] synonym: "DiGeorge syndrome/velocardiofacial syndrome complex 2" RELATED [OMIM:601362] synonym: "DiGeorge syndrome/velocardiofacial syndrome Complex type 2" EXACT [MONDORULE:1, OMIM:601362] synonym: "DiGeorge syndrome/velocardiofacial syndrome complex-2" EXACT [OMIM:601362, OMIM:genemap2] synonym: "distal 10p deletion" EXACT [Orphanet:1580] synonym: "distal monosomy type 10p" EXACT [MONDORULE:4, Orphanet:1580] synonym: "monosomy 10p" RELATED [GARD:0001323] synonym: "monosomy 10pter" EXACT [Orphanet:1580] synonym: "partial monosomy 10p" RELATED [GARD:0001323] synonym: "telomeric deletion 10p" EXACT [Orphanet:1580] xref: MESH:C563337 {source="MONDO:equivalentTo"} xref: NCIT:C130982 {source="MONDO:equivalentTo"} xref: OMIM:601362 {source="Orphanet:1580/e", source="MONDO:equivalentTo", source="Orphanet:1580"} xref: Orphanet:1580 {source="MONDO:equivalentTo", source="OMIM:601362"} xref: SCTID:719686003 {source="MONDO:equivalentTo"} xref: UMLS:C1832431 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:601362", source="Orphanet:1580"} xref: UMLS:C4304502 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="MESH:C563337/inferred", source="Orphanet:1580/inferred"} ! genetic disorder is_a: MONDO:0016892 {source="Orphanet:1580"} ! partial deletion of the short arm of chromosome 10 property_value: exactMatch http://identifiers.org/mesh/C563337 property_value: exactMatch http://identifiers.org/snomedct/719686003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832431 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304502 property_value: exactMatch https://omim.org/entry/601362 property_value: exactMatch NCIT:C130982 property_value: exactMatch Orphanet:1580 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011059 name: holoprosencephaly-craniosynostosis syndrome def: "Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features." [Orphanet:2163] subset: ordo_malformation_syndrome {source="Orphanet:2163"} synonym: "camera Lituania Cohen syndrome" RELATED [GARD:0002454] synonym: "Camero-Lituania-Cohen syndrome" EXACT [Orphanet:2163] synonym: "Genoa syndrome" EXACT [OMIM:601370, Orphanet:2163] synonym: "holoprosencephaly craniosynostosis" RELATED [GARD:0002454] synonym: "holoprosencephaly, SEMILOBAR, with craniosynostosis" RELATED [OMIM:601370] synonym: "Semilobar holoprosencephaly and primary craniosynostosis" RELATED [GARD:0002454] xref: ICD10CM:Q04.2 {source="MONDO:relatedTo", source="Orphanet:2163/attributed", source="Orphanet:2163/ntbt", source="Orphanet:2163"} xref: MESH:C537684 {source="MONDO:equivalentTo"} xref: OMIM:601370 {source="Orphanet:2163/e", source="MONDO:equivalentTo", source="Orphanet:2163"} xref: Orphanet:2163 {source="MONDO:equivalentTo", source="OMIM:601370"} xref: SCTID:715434005 {source="MONDO:equivalentTo"} xref: UMLS:C1832424 {source="Orphanet:2163/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:601370", source="Orphanet:2163"} is_a: MONDO:0015338 {source="Orphanet:2163"} ! syndromic craniosynostosis property_value: exactMatch http://identifiers.org/mesh/C537684 property_value: exactMatch http://identifiers.org/snomedct/715434005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832424 property_value: exactMatch https://omim.org/entry/601370 property_value: exactMatch Orphanet:2163 [Term] id: MONDO:0011060 name: early-onset non-syndromic cataract def: "Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected." [Orphanet:91492] comment: Not in the OMIM series. {source="OMIM:601371"} subset: ordo_disease {source="Orphanet:91492"} synonym: "cataract, age-related nuclear" RELATED [OMIM:601371] synonym: "nuclear sclerosis of the lens" RELATED [OMIM:601371] xref: OMIM:601371 {source="MONDO:equivalentTo"} xref: Orphanet:91492 {source="MONDO:equivalentTo", source="OMIM:601371"} xref: UMLS:C1832423 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:601371"} is_a: MONDO:0005129 {source="Orphanet:91492", source="Orphanet:91492/inferred"} ! cataract is_a: MONDO:0015217 {source="Orphanet:91492"} ! non-syndromic developmental defect of the eye property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832423 property_value: exactMatch https://omim.org/entry/601371 property_value: exactMatch Orphanet:91492 [Term] id: MONDO:0011062 name: aprosencephaly cerebellar dysgenesis subset: ordo_malformation_syndrome {source="Orphanet:1126"} synonym: "aprosencephaly and cerebellar dysgenesis" RELATED [OMIM:601374] xref: MESH:C563331 {source="MONDO:equivalentTo"} xref: OMIM:601374 {source="MONDO:equivalentTo", source="Orphanet:1126", source="Orphanet:1126/e"} xref: Orphanet:1126 {source="OMIM:601374", source="MONDO:equivalentTo"} xref: UMLS:C1832412 {source="OMIM:601374", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1126"} is_a: MONDO:0017090 {source="Orphanet:1126"} ! midline cerebral malformation property_value: exactMatch http://identifiers.org/mesh/C563331 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832412 property_value: exactMatch https://omim.org/entry/601374 property_value: exactMatch Orphanet:1126 [Term] id: MONDO:0011063 name: hidrotic ectodermal dysplasia, Christianson-Fourie type def: "Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia." [Orphanet:1808] subset: gard_rare {source="GARD:0002682"} subset: ordo_malformation_syndrome {source="Orphanet:1808"} synonym: "Christianson-Fourie syndrome" EXACT [Orphanet:1808] synonym: "ectodermal dysplasia, hidrotic, Christianson-Fourie type" RELATED [OMIM:601375] xref: MESH:C536180 {source="Orphanet:1808", source="MONDO:equivalentTo", source="Orphanet:1808/e"} xref: OMIM:601375 {source="Orphanet:1808", source="MONDO:equivalentTo", source="Orphanet:1808/e"} xref: Orphanet:1808 {source="OMIM:601375", source="MONDO:equivalentTo"} xref: UMLS:C1832411 {source="OMIM:601375", source="Orphanet:1808", source="MONDO:equivalentTo", source="Orphanet:1808/e", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019287 {source="MESH:C536180", source="Orphanet:1808"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C536180 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832411 property_value: exactMatch https://omim.org/entry/601375 property_value: exactMatch Orphanet:1808 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2682/ectodermal-dysplasia-hidrotic-christianson-fourie-type xsd:anyURI {source="GARD:0002682"} [Term] id: MONDO:0011064 name: lethal chondrodysplasia, Seller type subset: gard_rare {source="GARD:0003226"} subset: ordo_malformation_syndrome {source="Orphanet:1421"} synonym: "chondrodysplasia, lethal, with long bone angulation and mixed bone density" RELATED [OMIM:601376] synonym: "lethal chondrodysplasia seller type" RELATED [GARD:0003226] xref: MESH:C563330 {source="MONDO:equivalentTo"} xref: OMIM:601376 {source="Orphanet:1421", source="MONDO:equivalentTo", source="Orphanet:1421/e"} xref: Orphanet:1421 {source="OMIM:601376", source="MONDO:equivalentObsolete"} xref: UMLS:C1832410 {source="OMIM:601376", source="Orphanet:1421", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019718 {source="Orphanet:1421"} ! lethal chondrodysplasia property_value: exactMatch http://identifiers.org/mesh/C563330 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832410 property_value: exactMatch https://omim.org/entry/601376 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3226/lethal-chondrodysplasia-seller-type xsd:anyURI {source="GARD:0003226"} [Term] id: MONDO:0011065 name: Hunter-McAlpine craniosynostosis def: "Hunter-McAlpine craniosynostosis is characterized by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter)." [Orphanet:97340] subset: ordo_malformation_syndrome {source="Orphanet:97340"} synonym: "craniosynostosis, mental deficiency, almond-shaped palpebral fissures, downturned mouth, mild acral-skeletal anomalies, and short stature" RELATED [GARD:0002754] synonym: "Hunter-McAlpine craniosynostosis syndrome" RELATED [OMIM:601379] synonym: "Hunter-McAlpine syndrome" RELATED [GARD:0002754] xref: MESH:C536072 {source="Orphanet:97340/e", source="MONDO:equivalentTo", source="Orphanet:97340"} xref: OMIM:601379 {source="Orphanet:97340/e", source="MONDO:equivalentTo", source="Orphanet:97340"} xref: Orphanet:97340 {source="OMIM:601379", source="MONDO:equivalentTo"} xref: SCTID:721227001 {source="MONDO:equivalentTo"} xref: UMLS:C1832408 {source="Orphanet:97340/e", source="OMIM:601379", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:97340"} is_a: MONDO:0015338 {source="Orphanet:97340"} ! syndromic craniosynostosis property_value: exactMatch http://identifiers.org/mesh/C536072 property_value: exactMatch http://identifiers.org/snomedct/721227001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832408 property_value: exactMatch https://omim.org/entry/601379 property_value: exactMatch Orphanet:97340 [Term] id: MONDO:0011066 name: Charcot-Marie-Tooth disease type 4B1 def: "Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus)." [Orphanet:99955] subset: gard_rare {source="GARD:0001253"} subset: ordo_disease {source="Orphanet:99955"} synonym: "autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1" EXACT [DOID:0110191] synonym: "Charcot Marie Tooth disease type 4B1" RELATED [GARD:0001253] synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in MTMR2" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease type 4B1" EXACT [] synonym: "Charcot-Marie-Tooth disease, autosomal recessive, with focally folded myelin sheaths, autosomal recessive, type 4B1" RELATED [OMIM:601382] synonym: "Charcot-Marie-Tooth disease, type 4B" RELATED [OMIM:601382] synonym: "Charcot-Marie-Tooth disease, type 4B1" RELATED [MONDO:Lexical, OMIM:601382] synonym: "Charcot-Marie-Tooth neuropathy type 4B1" EXACT [DOID:0110191] synonym: "Charcot-Marie-Tooth neuropathy, type 4B1" RELATED [OMIM:601382] synonym: "CMT 4B" RELATED [GARD:0001253] synonym: "CMT 4B1" RELATED [GARD:0001253] synonym: "CMT4B1" EXACT ABBREVIATION [DOID:0110191, MONDO:Lexical, OMIM:601382, Orphanet:99955] synonym: "MTMR2 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110191 {source="MONDO:equivalentTo"} xref: MESH:C535420 {source="Orphanet:99955", source="MONDO:equivalentTo", source="Orphanet:99955/e"} xref: OMIM:601382 {source="Orphanet:99955", source="DOID:0110191", source="MONDO:equivalentTo", source="Orphanet:99955/e"} xref: Orphanet:99955 {source="DOID:0110191", source="MONDO:equivalentTo", source="OMIM:601382"} xref: SCTID:715803003 {source="MONDO:equivalentTo"} xref: UMLS:C1832399 {source="Orphanet:99955", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:99955/e", source="OMIM:601382"} is_a: MONDO:0018995 {source="DOID:0110191", source="MONDO:Redundant", source="Orphanet:99955"} ! Charcot-Marie-Tooth disease type 4 property_value: exactMatch DOID:0110191 property_value: exactMatch http://identifiers.org/mesh/C535420 property_value: exactMatch http://identifiers.org/snomedct/715803003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832399 property_value: exactMatch https://omim.org/entry/601382 property_value: exactMatch Orphanet:99955 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1253/charcot-marie-tooth-disease-type-4b1 xsd:anyURI {source="GARD:0001253"} [Term] id: MONDO:0011071 name: hereditary thrombocytopenia and hematologic cancer predisposition syndrome def: "The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes." [https://clinicalgenome.org/affiliation/50034/, PMID:28600339] subset: ordo_disease {source="Orphanet:71290"} synonym: "familial platelet syndrome with predisposition to acute myelogenous leukaemia" RELATED OMO:0003005 [] synonym: "familial thrombocytopenia with propensity to acute myelogenous leukaemia" RELATED OMO:0003005 [] synonym: "hereditary thrombocytopenia and hematologic cancer predisposition syndrome" EXACT [] synonym: "thrombocytopenia, familial, with propensity to acute myelogenous leukaemia" RELATED OMO:0003005 [] xref: MESH:C563324 {source="MONDO:equivalentTo"} xref: Orphanet:71290 {source="OMIM:601399", source="MONDO:equivalentTo"} xref: SCTID:725034002 {source="MONDO:equivalentTo"} xref: UMLS:C1832388 {source="OMIM:601399", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:71290"} is_a: MONDO:0015356 {source="Orphanet:71290"} ! hereditary neoplastic syndrome is_a: MONDO:0018796 {source="Orphanet:71290"} ! isolated constitutional thrombocytopenia is_a: MONDO:0020118 {source="Orphanet:71290"} ! dense granule disease is_a: MONDO:0021181 {source="MESH:C563324", source="MONDO:Redundant", source="MONDO:indirect"} ! inherited blood coagulation disorder property_value: exactMatch http://identifiers.org/mesh/C563324 property_value: exactMatch http://identifiers.org/snomedct/725034002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832388 property_value: exactMatch Orphanet:71290 [Term] id: MONDO:0011074 name: autosomal dominant nonsyndromic hearing loss 7 def: "An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has material basis in variation in the chromosome region 1q21-q23." [DOID:0110591, PMID:8842739] synonym: "autosomal dominant deafness 7" NARROW [DOID:0110591] synonym: "autosomal dominant nonsyndromic deafness 7" NARROW [OMIM:601412] synonym: "autosomal dominant nonsyndromic deafness type 7" NARROW [DOID:0110591, MONDORULE:1] synonym: "deafness, autosomal dominant 7" NARROW [MONDO:Lexical, OMIM:601412, OMIM:genemap2] synonym: "DFNA7" NARROW ABBREVIATION [DOID:0110591, MONDO:Lexical, OMIM:601412] xref: DOID:0110591 {source="MONDO:equivalentTo"} xref: MESH:C563321 {source="MONDO:equivalentTo"} xref: OMIM:601412 {source="MONDO:equivalentTo", source="DOID:0110591"} xref: UMLS:C1832379 {source="OMIM:601412", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019587 {source="DC-OMIM:601412", source="DOID:0110591", source="OMIM:601412"} ! autosomal dominant nonsyndromic hearing loss property_value: exactMatch DOID:0110591 property_value: exactMatch http://identifiers.org/mesh/C563321 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832379 property_value: exactMatch https://omim.org/entry/601412 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/551 xsd:anyURI [Term] id: MONDO:0011076 name: myofibrillar myopathy 1 def: "A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure." [https://orcid.org/0000-0001-5208-3432, Orphanet:98909] subset: ordo_disease {source="Orphanet:363543", source="Orphanet:98909"} synonym: "arrhythmogenic right ventricular cardiomyopathy 7" RELATED [OMIM:601419] synonym: "arrhythmogenic right ventricular cardiomyopathy 7, formerly" RELATED [OMIM:601419] synonym: "arrhythmogenic right ventricular dysplasia, familial, 7" RELATED [OMIM:601419] synonym: "arrhythmogenic right ventricular dysplasia, familial, 7, formerly" RELATED [OMIM:601419] synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES" EXACT [MONDO:design_pattern] synonym: "autosomal recessive limb-girdle muscular dystrophy type 2R" EXACT [MONDO:0014129] synonym: "cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D" RELATED [OMIM:601419] synonym: "cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D, formerly" RELATED [OMIM:601419] synonym: "cardiomyopathy, dilated, with conduction defect and muscular dystrophy" RELATED [OMIM:601419] synonym: "CMD1F and LGMD1D" RELATED DEPRECATED [OMIM:601419] synonym: "CMD1F and LGMD1D, formerly" RELATED [OMIM:601419] synonym: "DES autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "DES myofibrillar myopathy (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "desmin-related myofibrillar myopathy" EXACT [Orphanet:98909] synonym: "desmin-related myopathy" RELATED [OMIM:601419] synonym: "desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy" RELATED [OMIM:601419] synonym: "desminopathy" EXACT [DOID:0080092] synonym: "desminopathy, primary" RELATED [OMIM:601419] synonym: "IBM1" RELATED DEPRECATED [Wikipedia:Hereditary_inclusion_body_myopathy] synonym: "inclusion body myopathy 1, autosomal dominant" RELATED [OMIM:601419] synonym: "inclusion body myopathy 1, autosomal dominant, formerly" RELATED [OMIM:601419] synonym: "MFM1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601419] synonym: "myofibrillar myopathy (disease) caused by mutation in DES" EXACT [] synonym: "myofibrillar myopathy 1" EXACT [] synonym: "myofibrillar myopathy type 1" EXACT [DOID:0080092, MONDORULE:1] synonym: "myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy" RELATED [OMIM:601419] synonym: "myopathy, myofibrillar, 1" RELATED [MONDO:Lexical, OMIM:601419] synonym: "myopathy, myofibrillar, desmin-related" RELATED [OMIM:601419] synonym: "myopathy, myofibrillar, type 1" EXACT [MONDORULE:1, OMIM:601419] xref: DOID:0080092 {source="MONDO:equivalentTo"} xref: DOID:0110286 {source="MONDO:equivalentObsolete"} xref: OMIM:601419 {source="Orphanet:98909/e", source="MONDO:equivalentTo", source="DOID:0080092", source="Orphanet:98909"} xref: OMIM:615325 {source="MONDO:equivalentObsolete", source="Orphanet:363543", source="DOID:0110286", source="Orphanet:363543/e"} xref: Orphanet:363543 {source="OMIM:615325", source="MONDO:equivalentObsolete", source="DOID:0110286"} xref: Orphanet:98909 {source="MONDO:equivalentTo", source="OMIM:601419"} xref: UMLS:C1832370 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:601419", source="Orphanet:98909"} xref: UMLS:C3809137 {source="OMIM:615325", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:1001902 ! neuromuscular disease is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0016187 ! qualitative or quantitative defects of desmin is_a: MONDO:0016333 ! familial dilated cardiomyopathy is_a: MONDO:0018943 {source="MONDO:Redundant", source="OMIM:601419", source="Orphanet:98909"} ! myofibrillar myopathy property_value: exactMatch DOID:0080092 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832370 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809137 property_value: exactMatch https://omim.org/entry/601419 property_value: exactMatch Orphanet:98909 property_value: excluded_subClassOf MONDO:0005336 {source="DOID:0080092", source="MONDO:Redundant", source="MONDO:indirect"} property_value: excluded_subClassOf MONDO:0015152 {source="DOID:0110286", source="OMIM:615325", source="Orphanet:363543"} property_value: excluded_subClassOf MONDO:0016108 {source="Orphanet:98909"} property_value: excluded_subClassOf MONDO:0016112 {source="Orphanet:98909"} property_value: excluded_subClassOf MONDO:0016187 {source="Orphanet:363543"} property_value: excluded_subClassOf MONDO:0016340 {source="Orphanet:98909"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4370 xsd:anyURI [Term] id: MONDO:0011079 name: rhizomelic dysplasia, Patterson-Lowry type def: "Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia." [Orphanet:2831] subset: gard_rare {source="GARD:0004703"} subset: ordo_malformation_syndrome {source="Orphanet:2831"} synonym: "Patterson Lowry syndrome" RELATED [GARD:0004703] synonym: "Patterson-Lowry rhizomelic dysplasia" RELATED [GARD:0004703] synonym: "rhizomelic dysplasia Patterson Lowry type" RELATED [GARD:0004703] synonym: "rhizomelic dysplasia, Patterson-Lowry type" EXACT [OMIM:601438] xref: MESH:C537609 {source="MONDO:equivalentTo", source="Orphanet:2831", source="Orphanet:2831/e"} xref: OMIM:601438 {source="MONDO:equivalentTo", source="Orphanet:2831", source="Orphanet:2831/e"} xref: Orphanet:2831 {source="MONDO:equivalentTo", source="OMIM:601438"} xref: SCTID:715505002 {source="MONDO:equivalentTo"} xref: UMLS:C1832359 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2831", source="OMIM:601438", source="Orphanet:2831/e"} is_a: MONDO:0019697 {source="Orphanet:2831"} ! mesomelic and rhizo-mesomelic dysplasia property_value: exactMatch http://identifiers.org/mesh/C537609 property_value: exactMatch http://identifiers.org/snomedct/715505002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832359 property_value: exactMatch https://omim.org/entry/601438 property_value: exactMatch Orphanet:2831 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4703/rhizomelic-dysplasia-patterson-lowry-type xsd:anyURI {source="GARD:0004703"} [Term] id: MONDO:0011080 name: progressive deafness with stapes fixation def: "Stapes fixation (stapedovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease)." [Orphanet:3235] subset: gard_rare {source="GARD:0005170"} subset: ordo_malformation_syndrome {source="Orphanet:3235"} synonym: "deafness, progressive, with stapes fixation" RELATED [OMIM:601449] synonym: "Stapedo-vestibular ankylosis" EXACT [Orphanet:3235] synonym: "Thies Reis syndrome" RELATED [GARD:0005170] synonym: "Thies-Reis syndrome" EXACT [Orphanet:3235] xref: MESH:C563316 {source="MONDO:equivalentTo"} xref: OMIM:601449 {source="Orphanet:3235", source="MONDO:equivalentTo", source="Orphanet:3235/e"} xref: Orphanet:3235 {source="MONDO:equivalentTo", source="OMIM:601449"} xref: SCTID:715529009 {source="MONDO:equivalentTo"} xref: UMLS:C1832354 {source="Orphanet:3235", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:601449"} xref: UMLS:C1844678 {source="Orphanet:3235", source="MONDO:relatedTo", source="Orphanet:3235/e"} is_a: EFO:0000508 {source="Orphanet:3235/inferred"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C563316 property_value: exactMatch http://identifiers.org/snomedct/715529009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832354 property_value: exactMatch https://omim.org/entry/601449 property_value: exactMatch Orphanet:3235 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5170/progressive-deafness-with-stapes-fixation xsd:anyURI {source="GARD:0005170"} [Term] id: MONDO:0011081 name: dislocation of the hip-dysmorphism syndrome def: "Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995." [Orphanet:2412] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2412"} synonym: "Collins Pope syndrome" RELATED [GARD:0001428] synonym: "Collins-Pope syndrome" EXACT [Orphanet:2412] synonym: "dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism" RELATED [OMIM:601450] synonym: "dislocation of the hip dysmorphism" RELATED [GARD:0001428] synonym: "hip, congenital dislocation of, with hyperextensibility of fingers and Facial Dysmorphism" RELATED [OMIM:601450] xref: MESH:C563315 {source="MONDO:equivalentTo"} xref: OMIM:601450 {source="Orphanet:2412", source="MONDO:equivalentTo", source="Orphanet:2412/e"} xref: Orphanet:2412 {source="MONDO:equivalentTo", source="GARD:0001428", source="OMIM:601450"} xref: SCTID:763755009 {source="MONDO:equivalentTo"} xref: UMLS:C1832353 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:601450"} is_a: MONDO:0015161 {source="Orphanet:2412"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C563315 property_value: exactMatch http://identifiers.org/snomedct/763755009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832353 property_value: exactMatch https://omim.org/entry/601450 property_value: exactMatch Orphanet:2412 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1428/collins-pope-syndrome xsd:anyURI {source="GARD:0001428"} [Term] id: MONDO:0011082 name: oculoauriculofrontonasal syndrome subset: gard_rare {source="GARD:0004031"} subset: ordo_malformation_syndrome {source="Orphanet:398156"} synonym: "OAFNS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601452, Orphanet:398156] synonym: "oculoauriculofrontonasal dysplasia" RELATED [OMIM:601452] synonym: "OCULOAURICULOFRONTONASAL syndrome" RELATED [OMIM:601452] synonym: "oculoauriculofrontonasal syndrome" EXACT [MONDO:Lexical, OMIM:601452] xref: MESH:C537865 {source="MONDO:equivalentTo"} xref: OMIM:601452 {source="Orphanet:398156", source="MONDO:equivalentTo", source="Orphanet:398156/e"} xref: Orphanet:398156 {source="OMIM:601452", source="MONDO:equivalentTo"} xref: UMLS:C1832352 {source="OMIM:601452", source="Orphanet:398156", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0016643 {source="Orphanet:398156"} ! frontonasal dysplasia property_value: exactMatch http://identifiers.org/mesh/C537865 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832352 property_value: exactMatch https://omim.org/entry/601452 property_value: exactMatch Orphanet:398156 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4031/oculoauriculofrontonasal-syndrome xsd:anyURI {source="GARD:0004031"} [Term] id: MONDO:0011083 name: trichodental syndrome def: "Trichodental syndrome is characterized by the association of fine, dry and short hair with dental anomalies. It has been described in less than 10 families. The mode of transmission is autosomal dominant." [Orphanet:3351] subset: gard_rare {source="GARD:0000265"} subset: ordo_malformation_syndrome {source="Orphanet:3351"} synonym: "kersey syndrome" EXACT [Orphanet:3351] synonym: "Tricho-dental dysplasia" RELATED [GARD:0000265] synonym: "Tricho-dental syndrome" RELATED [GARD:0000265] synonym: "TRICHODENTAL dysplasia" RELATED [OMIM:601453] xref: MESH:C536551 {source="Orphanet:3351/e", source="MONDO:equivalentTo", source="Orphanet:3351"} xref: OMIM:601453 {source="Orphanet:3351/e", source="MONDO:equivalentTo", source="Orphanet:3351"} xref: Orphanet:3351 {source="OMIM:601453", source="MONDO:equivalentTo"} xref: SCTID:277810000 {source="MONDO:equivalentTo"} xref: UMLS:C0406724 {source="OMIM:601453", source="Orphanet:3351/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3351"} is_a: MONDO:0019287 {source="MESH:C536551", source="Orphanet:3351"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C536551 property_value: exactMatch http://identifiers.org/snomedct/277810000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406724 property_value: exactMatch https://omim.org/entry/601453 property_value: exactMatch Orphanet:3351 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/265/trichodental-syndrome xsd:anyURI {source="GARD:0000265"} [Term] id: MONDO:0011085 name: Charcot-Marie-Tooth disease type 4D def: "Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported." [Orphanet:99950] subset: gard_rare {source="GARD:0003973"} subset: ordo_disease {source="Orphanet:99950"} synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D" EXACT [DOID:0110186] synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in NDRG1" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease type 4D" EXACT [] synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4D" RELATED [OMIM:601455] synonym: "Charcot-Marie-Tooth disease, type 4D" RELATED [GARD:0003973, MONDO:Lexical, OMIM:601455] synonym: "Charcot-Marie-Tooth neuropathy type 4D" EXACT [DOID:0110186] synonym: "Charcot-Marie-Tooth neuropathy, type 4D" RELATED [OMIM:601455] synonym: "CMT4D" EXACT ABBREVIATION [DOID:0110186, MONDO:Lexical, OMIM:601455, Orphanet:99950] synonym: "hereditary motor ABD sensory neuropathy Lom type" EXACT [DOID:0110186] synonym: "hereditary motor and sensory neuropathy, Lom type" EXACT [Orphanet:99950] synonym: "HMSN Lom type" EXACT [DOID:0110186] synonym: "HMSN, Lom type" EXACT [Orphanet:99950] synonym: "HMSN-Lom" EXACT [DOID:0110186, Orphanet:99950] synonym: "HMSN4D" EXACT ABBREVIATION [DOID:0110186, OMIM:601455] synonym: "HMSNL" EXACT ABBREVIATION [DOID:0110186] synonym: "NDRG1 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "neuropathy, hereditary motor and sensory, Lom type" RELATED [OMIM:601455] synonym: "NMSL" RELATED ABBREVIATION [GARD:0003973] xref: DOID:0110186 {source="MONDO:equivalentTo"} xref: MESH:C535716 {source="Orphanet:99950", source="MONDO:equivalentTo", source="Orphanet:99950/e"} xref: OMIM:601455 {source="Orphanet:99950", source="MONDO:equivalentTo", source="Orphanet:99950/e", source="DOID:0110186"} xref: Orphanet:99950 {source="OMIM:601455", source="MONDO:equivalentTo", source="DOID:0110186"} xref: SCTID:715798007 {source="MONDO:equivalentTo"} xref: UMLS:C1832334 {source="Orphanet:99950", source="OMIM:601455", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:99950/e"} is_a: MONDO:0018995 {source="DOID:0110186", source="MONDO:Redundant", source="Orphanet:99950"} ! Charcot-Marie-Tooth disease type 4 property_value: exactMatch DOID:0110186 property_value: exactMatch http://identifiers.org/mesh/C535716 property_value: exactMatch http://identifiers.org/snomedct/715798007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832334 property_value: exactMatch https://omim.org/entry/601455 property_value: exactMatch Orphanet:99950 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3973/charcot-marie-tooth-disease-type-4d xsd:anyURI {source="GARD:0003973"} [Term] id: MONDO:0011086 name: severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive def: "A rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia." [Orphanet:331206] subset: ordo_disease {source="Orphanet:331206"} synonym: "SCID due to complete RAG1-2 deficiency" EXACT [DOID:0090013] synonym: "SCID due to complete RAG1/2 deficiency" EXACT [Orphanet:331206] synonym: "SCID, AR, T-cell negative, B-cell negative, NK cell-positive" RELATED [GARD:0010339] synonym: "SCID, T cell-negative, B cell-negative, NK cell-positive" RELATED [OMIM:601457] synonym: "severe combined immunodeficiency due to complete RAG1-2 deficiency" EXACT [DOID:0090013] synonym: "severe combined immunodeficiency due to complete RAG1/2 deficiency" RELATED [Orphanet:331206] synonym: "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive" EXACT [OMIM:601457] synonym: "severe combined immunodeficiency, B cell-negative" EXACT [OMIM:601457, OMIM:genemap2] synonym: "severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive" RELATED [GARD:0010339] xref: DOID:0090013 {source="MONDO:equivalentTo"} xref: MESH:C563311 {source="MONDO:equivalentTo"} xref: OMIM:601457 {source="MONDO:equivalentTo", source="DOID:0090013", source="Orphanet:331206", source="Orphanet:331206/e"} xref: Orphanet:331206 {source="MONDO:equivalentTo", source="DOID:0090013", source="OMIM:601457"} xref: UMLS:C1832322 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:601457", source="Orphanet:331206"} is_a: MONDO:0017855 {source="Orphanet:331206", source="PMID:3195371"} ! T-B- severe combined immunodeficiency is_a: MONDO:0031520 {source="DOID:0090013", source="MONDO:Redundant", source="OMIM:601457", source="Orphanet:331206/inferred"} ! familial severe combined immunodeficiency property_value: exactMatch DOID:0090013 property_value: exactMatch http://identifiers.org/mesh/C563311 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832322 property_value: exactMatch https://omim.org/entry/601457 property_value: exactMatch Orphanet:331206 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011090 name: isolated hereditary congenital facial paralysis def: "Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal." [Orphanet:306527] subset: gard_rare subset: ordo_morphological_anomaly {source="Orphanet:306527"} synonym: "facial palsy, congenital, unilateral or bilateral" RELATED [OMIM:601471] synonym: "facial paresis hereditary congenital" RELATED [GARD:0008583] synonym: "facial paresis, hereditary congenital" RELATED [OMIMPS:601471] synonym: "HCFP" BROAD ABBREVIATION [] synonym: "hereditary congenital facial paresis" RELATED [GARD:0008583] synonym: "MBS2 (formerly)" RELATED [GARD:0008583] synonym: "Mobius syndrome 2 (formerly)" RELATED [GARD:0008583] synonym: "Moebius syndrome 2 (formerly)" RELATED [GARD:0008583] xref: MESH:C563309 {source="MONDO:equivalentTo"} xref: OMIMPS:601471 {source="MONDO:equivalentTo"} xref: Orphanet:306527 {source="MONDO:equivalentTo", source="OMIM:601471"} xref: SCTID:733091002 {source="MONDO:equivalentTo"} xref: UMLS:C4518577 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015499 {source="Orphanet:306527"} ! paralytic facial malformation is_a: MONDO:0020132 {source="Orphanet:306527"} ! cranial nerve and nuclear aplasia property_value: exactMatch http://identifiers.org/mesh/C563309 property_value: exactMatch http://identifiers.org/snomedct/733091002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518577 property_value: exactMatch https://omim.org/phenotypicSeries/PS601471 property_value: exactMatch Orphanet:306527 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8583/hereditary-congenital-facial-paresis xsd:anyURI {source="GARD:0008583"} [Term] id: MONDO:0011091 name: Charcot-Marie-Tooth disease type 2D def: "Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow." [Orphanet:99938] subset: gard_rare {source="GARD:0001251"} subset: ordo_disease {source="Orphanet:99938"} synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2D" EXACT [DOID:0110164] synonym: "Charcot Marie Tooth disease type 2D" RELATED [GARD:0001251] synonym: "Charcot-Marie-Tooth disease neuronal type 2D" EXACT [DOID:0110164] synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in GARS" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, axonal, type 2D" RELATED [GARD:0001251, MONDO:Lexical, OMIM:601472] synonym: "Charcot-Marie-Tooth disease, neuronal, type 2D" RELATED [OMIM:601472] synonym: "Charcot-Marie-Tooth disease, type 2D" EXACT [OMIM:601472, OMIM:genemap2] synonym: "Charcot-Marie-Tooth neuropathy type 2D" EXACT [DOID:0110164] synonym: "Charcot-Marie-Tooth neuropathy, type 2D" RELATED [OMIM:601472] synonym: "CMT 2D" RELATED [GARD:0001251] synonym: "CMT2D" EXACT ABBREVIATION [DOID:0110164, MONDO:Lexical, OMIM:601472, Orphanet:99938] synonym: "GARS Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110164 {source="MONDO:equivalentTo"} xref: MESH:C537993 {source="MONDO:equivalentTo"} xref: NCIT:C122659 {source="MONDO:equivalentTo"} xref: OMIM:601472 {source="Orphanet:99938/e", source="MONDO:equivalentTo", source="DOID:0110164", source="Orphanet:99938"} xref: Orphanet:99938 {source="MONDO:equivalentTo", source="DOID:0110164", source="OMIM:601472"} xref: SCTID:717011006 {source="MONDO:equivalentTo"} xref: UMLS:C1832274 {source="NCIT:C122659", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:99938", source="OMIM:601472"} xref: UMLS:C4274109 {source="MONDO:equivalentTo"} is_a: MONDO:0018993 {source="DOID:0110164", source="MONDO:Redundant", source="Orphanet:99938"} ! Charcot-Marie-Tooth disease type 2 property_value: exactMatch DOID:0110164 property_value: exactMatch http://identifiers.org/mesh/C537993 property_value: exactMatch http://identifiers.org/snomedct/717011006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832274 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274109 property_value: exactMatch https://omim.org/entry/601472 property_value: exactMatch NCIT:C122659 property_value: exactMatch Orphanet:99938 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1251/charcot-marie-tooth-disease-type-2d xsd:anyURI {source="GARD:0001251"} [Term] id: MONDO:0011093 name: mucopolysaccharidosis type 9 def: "An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency." [NCIT:C129073] subset: ordo_disease {source="Orphanet:67041"} synonym: "hyaluronidase deficiency" RELATED [OMIM:601492] synonym: "MPS 9" RELATED [OMIM:601492] synonym: "MPS9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601492, Orphanet:67041] synonym: "MPSIX" EXACT ABBREVIATION [Orphanet:67041] synonym: "mucopolysaccharidosis IX" RELATED [DOID:0050809] synonym: "mucopolysaccharidosis type 9" EXACT [Orphanet:67041] synonym: "mucopolysaccharidosis type IX" EXACT [DOID:0050809, MONDORULE:3, Orphanet:67041] synonym: "mucopolysaccharidosis, type 9" RELATED [OMIM:601492] synonym: "mucopolysaccharidosis, type IX" RELATED [MONDO:Lexical, OMIM:601492] xref: DOID:0050809 {source="MONDO:equivalentTo"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563209 {source="MONDO:equivalentTo"} xref: NCIT:C129073 {source="MONDO:equivalentTo"} xref: OMIM:601492 {source="DOID:0050809", source="MONDO:equivalentTo", source="Orphanet:67041", source="Orphanet:67041/e"} xref: Orphanet:67041 {source="MONDO:equivalentTo", source="OMIM:601492"} xref: SCTID:124473006 {source="MONDO:equivalentTo"} xref: UMLS:C1291490 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:67041", source="OMIM:601492", source="NCIT:C129073"} is_a: EFO:0004260 ! bone disease is_a: MONDO:0019249 {source="DC-OMIM:601492", source="DOID:0050809", source="MESH:C563209", source="MONDO:Redundant", source="NCIT:C129073", source="OMIM:601492", source="Orphanet:67041"} ! mucopolysaccharidosis relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch DOID:0050809 property_value: exactMatch http://identifiers.org/mesh/C563209 property_value: exactMatch http://identifiers.org/snomedct/124473006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1291490 property_value: exactMatch https://omim.org/entry/601492 property_value: exactMatch NCIT:C129073 property_value: exactMatch Orphanet:67041 [Term] id: MONDO:0011096 name: autosomal agammaglobulinemia def: "Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea." [Orphanet:33110] subset: ordo_clinical_subtype {source="Orphanet:33110"} synonym: "agammaglobulinemia, autosomal recessive, due to IGHM defect" RELATED [OMIM:601495] synonym: "agammaglobulinemia, non-Bruton type" EXACT [Orphanet:33110] synonym: "AGM" EXACT ABBREVIATION [MONDO:cjm] xref: MESH:C538056 {source="MONDO:equivalentTo"} xref: Orphanet:33110 {source="OMIM:601495", source="MONDO:equivalentTo"} xref: UMLS:C1832241 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:33110"} is_a: MONDO:0016462 {source="Orphanet:33110"} ! isolated agammaglobulinemia property_value: exactMatch http://identifiers.org/mesh/C538056 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832241 property_value: exactMatch Orphanet:33110 [Term] id: MONDO:0011099 name: human HOXA1 syndromes def: "Human HOXA1 syndromes is characterized by deafness, central hypoventilation, congenital ocular paralysis and developmental retardation. Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive." [Orphanet:69739] subset: ordo_disease {source="Orphanet:69739"} synonym: "ABDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601536] synonym: "ABSD" EXACT ABBREVIATION [Orphanet:69739] synonym: "Athabascan brainstem dysgenesis syndrome" EXACT [Orphanet:69739] synonym: "Athabaskan brainstem dysgenesis" RELATED [GARD:0008333] synonym: "Athabaskan brainstem dysgenesis syndrome" EXACT [MONDO:Lexical, OMIM:601536] synonym: "Bosley Salih Alorainy syndrome" RELATED [GARD:0008333] synonym: "Bosley-Salih-Alorainy syndrome" RELATED [OMIM:601536] synonym: "BSAS" RELATED ABBREVIATION [GARD:0008333] synonym: "Human HOXA1 syndromes" RELATED [GARD:0008333] synonym: "Navajo brainstem syndrome" EXACT [DOID:0050682, OMIM:601536, Orphanet:69739] xref: DOID:0050682 {source="MONDO:equivalentTo"} xref: OMIM:601536 {source="DOID:0050682", source="MONDO:equivalentTo", source="Orphanet:69739", source="Orphanet:69739/e"} xref: Orphanet:69739 {source="MONDO:equivalentTo", source="OMIM:601536"} xref: SCTID:720518006 {source="MONDO:equivalentTo"} xref: UMLS:C1832215 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:69739", source="OMIM:601536", source="Orphanet:69739/e"} is_a: EFO:1000017 {source="DOID:0050682", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: exactMatch DOID:0050682 property_value: exactMatch http://identifiers.org/snomedct/720518006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832215 property_value: exactMatch https://omim.org/entry/601536 property_value: exactMatch Orphanet:69739 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1377 xsd:anyURI [Term] id: MONDO:0011101 name: peroxisome biogenesis disorder 1B synonym: "adrenoleukodystrophy, autosomal neonatal" RELATED [OMIM:601539] synonym: "infantile phytanic acid storage disease" RELATED [OMIM:601539] synonym: "PBD1B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601539] synonym: "peroxisome biogenesis disorder (NALD/Ird)" RELATED [OMIM:601539] synonym: "peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile Refsum disease)" RELATED [OMIM:601539] synonym: "peroxisome biogenesis disorder 1B" EXACT [MONDO:Lexical, OMIM:601539] synonym: "peroxisome biogenesis disorder 1B (NALD/IRD)" EXACT [OMIM:601539, OMIM:genemap2] synonym: "peroxisome biogenesis disorder type 1B" EXACT [MONDORULE:4, OMIM:601539] synonym: "Refsum disease, infantile" RELATED [OMIM:601539] xref: DOID:0081240 {source="MONDO:equivalentTo"} xref: NCIT:C155749 {source="MONDO:equivalentTo"} xref: OMIM:601539 {source="MONDO:equivalentTo"} xref: Orphanet:44 {source="OMIM:601539", source="MONDO:directSiblingOf"} xref: Orphanet:772 {source="OMIM:601539", source="MONDO:directSiblingOf"} xref: UMLS:C0282527 {source="OMIM:601539", source="MONDO:directSiblingOf"} xref: UMLS:CN168921 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0100259 {source="DC-OMIM:601539", source="MONDO:ORDO-Gene", source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX1 defect relationship: has_characteristic MONDO:0100357 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! non-classic presentation property_value: exactMatch DOID:0081240 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN168921 property_value: exactMatch https://omim.org/entry/601539 property_value: exactMatch NCIT:C155749 property_value: excluded_subClassOf MONDO:0019234 {source="MONDO:0011101/inferred", source="MONDO:Redundant", source="OMIM:601539"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011106 name: facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome def: "Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs." [Orphanet:412022] subset: ordo_malformation_syndrome {source="Orphanet:412022"} synonym: "ectopia lentis, spontaneous filtering blebs, and craniofacial Dysmorphism" RELATED [OMIM:601552] synonym: "facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs" RELATED [MONDO:Lexical, OMIM:601552] synonym: "facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome" EXACT [Orphanet:412022] synonym: "facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome" EXACT [] synonym: "FDLAB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601552] synonym: "FDLAB syndrome" EXACT [Orphanet:412022] synonym: "Traboulsi syndrome" EXACT [OMIM:601552, Orphanet:412022] xref: MESH:C563293 {source="MONDO:equivalentTo"} xref: OMIM:601552 {source="Orphanet:412022/e", source="MONDO:equivalentTo", source="Orphanet:412022"} xref: Orphanet:412022 {source="OMIM:601552", source="MONDO:equivalentTo"} xref: UMLS:C1832167 {source="OMIM:601552", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:412022"} is_a: EFO:0009674 ! lens disease property_value: exactMatch http://identifiers.org/mesh/C563293 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832167 property_value: exactMatch https://omim.org/entry/601552 property_value: exactMatch Orphanet:412022 [Term] id: MONDO:0011107 name: congenital hypotrichosis with juvenile macular dystrophy def: "A very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness." [Orphanet:1573] subset: ordo_malformation_syndrome {source="Orphanet:1573"} synonym: "HJMD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601553, Orphanet:1573] synonym: "Hjmd" EXACT [DOID:0110711] synonym: "hypotrichosis with cone-rod dystrophy" EXACT [DOID:0110711, OMIM:601553] synonym: "hypotrichosis with juvenile macular degeneration" RELATED [Orphanet:1573] synonym: "hypotrichosis with juvenile macular dystrophy" EXACT [Orphanet:1573] synonym: "hypotrichosis, congenital, with juvenile macular dystrophy" RELATED [MONDO:Lexical, OMIM:601553] synonym: "juvenile macular degeneration and hypotrichosis" RELATED [GARD:0003066] synonym: "juvenile macular dystrophy and congenital hypotrichosis" RELATED [GARD:0003066] xref: DOID:0110711 {source="MONDO:equivalentTo"} xref: MESH:C537698 {source="MONDO:equivalentTo"} xref: OMIM:601553 {source="DOID:0110711", source="Orphanet:1573", source="MONDO:equivalentTo", source="Orphanet:1573/e"} xref: Orphanet:1573 {source="OMIM:601553", source="MONDO:equivalentTo"} xref: UMLS:C1832162 {source="OMIM:601553", source="Orphanet:1573", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1573/e"} is_a: MONDO:0003037 {source="DOID:0110711", source="MESH:C537698"} ! hypotrichosis is_a: MONDO:0019287 {source="Orphanet:1573"} ! ectodermal dysplasia syndrome relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch DOID:0110711 property_value: exactMatch http://identifiers.org/mesh/C537698 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832162 property_value: exactMatch https://omim.org/entry/601553 property_value: exactMatch Orphanet:1573 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0011108 name: obsolete Stüve-Wiedemann syndrome property_value: IAO:0000231 IAO:0000229 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4864 xsd:anyURI is_obsolete: true replaced_by: MONDO:0800043 [Term] id: MONDO:0011109 name: multiple epiphyseal dysplasia, Lowry type def: "Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus." [Orphanet:166016] subset: ordo_disease {source="Orphanet:166016"} synonym: "epiphyseal dysplasia, multiple, with Robin phenotype" RELATED [OMIM:601560] synonym: "multiple epiphyseal dysplasia with ROBIN phenotype" RELATED [OMIM:601560] synonym: "multiple epiphyseal dysplasia with Robin phenotype" EXACT [Orphanet:166016] xref: MESH:C563291 {source="MONDO:equivalentTo"} xref: OMIM:601560 {source="MONDO:equivalentTo", source="Orphanet:166016", source="Orphanet:166016/e"} xref: Orphanet:166016 {source="MONDO:equivalentTo", source="OMIM:601560"} xref: SCTID:768935003 {source="MONDO:equivalentTo"} xref: UMLS:C1832112 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:166016", source="OMIM:601560"} is_a: MONDO:0016648 {source="Orphanet:166016"} ! multiple epiphyseal dysplasia property_value: exactMatch http://identifiers.org/mesh/C563291 property_value: exactMatch http://identifiers.org/snomedct/768935003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832112 property_value: exactMatch https://omim.org/entry/601560 property_value: exactMatch Orphanet:166016 [Term] id: MONDO:0011110 name: dyssegmental dysplasia-glaucoma syndrome def: "This syndrome is characterized by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children." [Orphanet:1804] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1804"} synonym: "dyssegmental dysplasia and glaucoma" RELATED [GARD:0002025] synonym: "dyssegmental dysplasia with glaucoma" RELATED [OMIM:601561] xref: MESH:C563290 {source="MONDO:equivalentTo"} xref: OMIM:601561 {source="Orphanet:1804/e", source="MONDO:equivalentTo", source="Orphanet:1804"} xref: Orphanet:1804 {source="OMIM:601561", source="GARD:0002025", source="MONDO:equivalentObsolete"} xref: UMLS:C1832111 {source="OMIM:601561", source="GARD:0002025", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1804"} is_a: EFO:0003966 {source="MONDO:0020222-obsoleted"} ! eye disease is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: exactMatch http://identifiers.org/mesh/C563290 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832111 property_value: exactMatch https://omim.org/entry/601561 property_value: excluded_subClassOf MONDO:0015217 {source="Orphanet:1804"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2025/dyssegmental-dysplasia-and-glaucoma xsd:anyURI {source="GARD:0002025"} [Term] id: MONDO:0011113 name: Charcot-Marie-Tooth disease type 4C def: "Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported." [Orphanet:99949] subset: gard_rare {source="GARD:0009201"} subset: ordo_disease {source="Orphanet:99949"} synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C" EXACT [DOID:0110183] synonym: "Charcot Marie Tooth disease type 4C" RELATED [GARD:0009201] synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in SH3TC2" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease type 4C" EXACT [] synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4C" RELATED [OMIM:601596] synonym: "Charcot-Marie-Tooth disease, type 4C" RELATED [MONDO:Lexical, OMIM:601596] synonym: "Charcot-Marie-Tooth neuropathy type 4C" EXACT [DOID:0110183] synonym: "Charcot-Marie-Tooth neuropathy, type 4C" RELATED [OMIM:601596] synonym: "CMT 4C" RELATED [GARD:0009201] synonym: "CMT4C" EXACT ABBREVIATION [DOID:0110183, MONDO:Lexical, OMIM:601596, Orphanet:99949] synonym: "SH3TC2 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110183 {source="MONDO:equivalentTo"} xref: MESH:C535423 {source="Orphanet:99949/e", source="MONDO:equivalentTo", source="Orphanet:99949"} xref: NCIT:C129864 {source="MONDO:equivalentTo"} xref: OMIM:601596 {source="Orphanet:99949/e", source="DOID:0110183", source="MONDO:equivalentTo", source="Orphanet:99949"} xref: Orphanet:99949 {source="OMIM:601596", source="DOID:0110183", source="MONDO:equivalentTo"} xref: SCTID:715797002 {source="MONDO:equivalentTo"} xref: UMLS:C1866636 {source="Orphanet:99949/e", source="OMIM:601596", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C129864", source="Orphanet:99949"} is_a: MONDO:0018995 {source="DOID:0110183", source="MONDO:Redundant", source="Orphanet:99949"} ! Charcot-Marie-Tooth disease type 4 property_value: exactMatch DOID:0110183 property_value: exactMatch http://identifiers.org/mesh/C535423 property_value: exactMatch http://identifiers.org/snomedct/715797002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866636 property_value: exactMatch https://omim.org/entry/601596 property_value: exactMatch NCIT:C129864 property_value: exactMatch Orphanet:99949 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9201/charcot-marie-tooth-disease-type-4c xsd:anyURI {source="GARD:0009201"} [Term] id: MONDO:0011114 name: familial multiple trichoepithelioma subset: ordo_clinical_subtype {source="Orphanet:867"} synonym: "Brooke-Fordyce Trichoepitheliomas" RELATED [OMIM:601606] synonym: "epithelioma adenoides cysticum" RELATED [GARD:0010867] synonym: "epithelioma Adenoides Cysticum of Brooke" RELATED [OMIM:601606] synonym: "epithelioma, hereditary multiple benign cystic" RELATED [OMIM:601606] synonym: "hereditary multiple benign cystic epithelioma" RELATED [GARD:0010867] synonym: "multiple familial trichoepithelioma" RELATED [GARD:0010867] synonym: "trichoepithelioma multiple familial" RELATED [GARD:0010867] xref: Orphanet:867 {source="MONDO:equivalentTo", source="OMIM:601606"} xref: SCTID:403825008 {source="MONDO:equivalentTo"} xref: UMLS:C1275122 {source="Orphanet:867", source="MONDO:equivalentTo", source="Orphanet:867/e"} is_a: MONDO:0011512 {source="Orphanet:867"} ! Brooke-Spiegler syndrome property_value: exactMatch http://identifiers.org/snomedct/403825008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275122 property_value: exactMatch Orphanet:867 [Term] id: MONDO:0011116 name: lung agenesis-heart defect-thumb anomalies syndrome def: "Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies." [Orphanet:1120] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1120"} synonym: "LACHT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601612] synonym: "lung agenesis heart defect thumb anomalies" RELATED [GARD:0003378, MESH:C535708] synonym: "lung agenesis, congenital heart defects, and thumb anomalies syndrome" RELATED [MONDO:Lexical, OMIM:601612] synonym: "Manouvrier syndrome" RELATED [GARD:0003378] synonym: "Mardini-Nyhan association" RELATED [OMIM:601612] synonym: "Mardini-Nyhan syndrome" EXACT [Orphanet:1120] synonym: "pulmonary aplasia and triphalangia of the thumb" RELATED [GARD:0003378, MESH:C535708] xref: MESH:C535708 {source="MONDO:equivalentTo"} xref: OMIM:601612 {source="Orphanet:1120", source="MONDO:equivalentTo", source="Orphanet:1120/e"} xref: Orphanet:1120 {source="GARD:0003378", source="MONDO:equivalentTo", source="OMIM:601612"} xref: SCTID:721976003 {source="MONDO:equivalentTo"} xref: UMLS:C0265780 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:directSiblingOf"} is_a: MONDO:0015222 {source="Orphanet:1120"} ! syndromic respiratory or mediastinal malformation is_a: MONDO:0015930 {source="Orphanet:1120"} ! respiratory malformation property_value: exactMatch http://identifiers.org/mesh/C535708 property_value: exactMatch http://identifiers.org/snomedct/721976003 property_value: exactMatch https://omim.org/entry/601612 property_value: exactMatch Orphanet:1120 property_value: excluded_subClassOf MONDO:0015221 {source="Orphanet:1120"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3378/manouvrier-syndrome xsd:anyURI {source="GARD:0003378"} [Term] id: MONDO:0011119 name: iridogoniodysgenesis comment: Editor note: see https://github.com/monarch-initiative/mondo/issues/203; this groups IRID1 and IRID2 subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98634"} synonym: "IRID" EXACT ABBREVIATION [MONDO:cjm] xref: DOID:0050786 {source="https://github.com/monarch-initiative/mondo/issues/203", source="MONDO:equivalentTo"} xref: Orphanet:98634 {source="MONDO:equivalentTo"} is_a: MONDO:0019503 {source="MONDO:cjm"} ! anterior segment dysgenesis property_value: exactMatch DOID:0050786 property_value: exactMatch Orphanet:98634 [Term] id: MONDO:0011124 name: spondyloepimetaphyseal dysplasia-abnormal dentition syndrome def: "A rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features." [https://orcid.org/0000-0001-5208-3432, Orphanet:168451] subset: ordo_disease {source="Orphanet:168451"} synonym: "SEMDAD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601668] synonym: "spondyloepimetaphyseal dysplasia with abnormal dentition" RELATED [MONDO:Lexical, OMIM:601668] xref: MESH:C566644 {source="MONDO:equivalentTo"} xref: OMIM:601668 {source="Orphanet:168451/e", source="MONDO:equivalentTo", source="Orphanet:168451"} xref: Orphanet:168451 {source="MONDO:equivalentTo", source="OMIM:601668"} xref: UMLS:C1866507 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:601668", source="Orphanet:168451"} is_a: MONDO:0100510 {source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia property_value: exactMatch http://identifiers.org/mesh/C566644 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866507 property_value: exactMatch https://omim.org/entry/601668 property_value: exactMatch Orphanet:168451 property_value: excluded_subClassOf MONDO:0016761 {source="Orphanet:168451"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5280 xsd:anyURI [Term] id: MONDO:0011127 name: obsolete Bartter disease type 1 property_value: IAO:0000231 IAO:0000229 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2935 xsd:anyURI is_obsolete: true replaced_by: MONDO:0100344 [Term] id: MONDO:0011128 name: Sheldon-hall syndrome def: "Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate." [Orphanet:1147] subset: ordo_malformation_syndrome {source="Orphanet:1147"} synonym: "arthrogryposis multiplex congenita distal type 2B" RELATED [GARD:0009909] synonym: "arthrogryposis multiplex congenita distal type II with craniofacial abnormalities" RELATED [GARD:0009909] synonym: "arthrogryposis multiplex congenita, distal, type 2B" RELATED [OMIM:601680] synonym: "arthrogryposis multiplex congenita, distal, type II, with craniofacial abnormalities" RELATED [OMIM:601680] synonym: "arthrogryposis, distal, type 2B" EXACT [MONDO:Lexical, OMIM:601680] synonym: "DA2B" EXACT ABBREVIATION [DOID:0111599, MONDO:Lexical, OMIM:601680] synonym: "distal arthrogryposis type 2B" EXACT [Orphanet:1147] synonym: "Freeman Sheldon syndrome, variant" RELATED [GARD:0009909] synonym: "Freeman Sheldon variant" RELATED [GARD:0009909] synonym: "Freeman-Sheldon syndrome variant" EXACT [DOID:0111599, Orphanet:1147] synonym: "Sheldon-Hall syndrome" EXACT [DOID:0111599, OMIM:601680] xref: DOID:0111599 {source="MONDO:equivalentTo"} xref: Orphanet:1147 {source="MONDO:equivalentTo", source="DOID:0111599", source="OMIM:601680"} xref: UMLS:C1834523 {source="Orphanet:1147", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:0111599", source="OMIM:601680"} is_a: MONDO:0019942 {source="DOID:0111599", source="Orphanet:1147"} ! distal arthrogryposis property_value: exactMatch DOID:0111599 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834523 property_value: exactMatch Orphanet:1147 [Term] id: MONDO:0011131 name: tricho-oculo-dermo-vertebral syndrome subset: ordo_malformation_syndrome {source="Orphanet:3354"} synonym: "Alves syndrome" RELATED [OMIM:601701] synonym: "Alves-dos Santos-Castelo syndrome" EXACT [Orphanet:3354] synonym: "arthrogryposis and ectodermal dysplasia" RELATED [OMIM:601701] synonym: "ectodermal dysplasia - cataracts - kyphoscoliosis" RELATED [GARD:0001553] synonym: "ectodermal dysplasia-cataracts-kyphoscoliosis syndrome" EXACT [Orphanet:3354] synonym: "Todv syndrome" RELATED [OMIM:601701] synonym: "Trichooculodermovertebral syndrome" RELATED [OMIM:601701] xref: MESH:C537441 {source="MONDO:equivalentTo"} xref: OMIM:601701 {source="Orphanet:3354", source="MONDO:equivalentTo", source="Orphanet:3354/e"} xref: Orphanet:3354 {source="MONDO:equivalentObsolete", source="OMIM:601701"} is_a: MONDO:0019287 {source="MESH:C537441", source="Orphanet:3354"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C537441 property_value: exactMatch https://omim.org/entry/601701 [Term] id: MONDO:0011132 name: T-cell immunodeficiency, congenital alopecia, and nail dystrophy def: "A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has material basis in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12." [DOID:0060769, https://ghr.nlm.nih.gov/condition/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy, PMID:10206641, PMID:8911612] subset: gard_rare {source="GARD:0004358"} subset: ordo_disease {source="Orphanet:169095"} synonym: "alopecia immunodeficiency" EXACT [] synonym: "alymphoid cystic thymic dysgenesis" EXACT [DOID:0060769] synonym: "congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency" RELATED [GARD:0004358] synonym: "FOXN1 deficiency" EXACT [Orphanet:169095] synonym: "Pignata Guarino syndrome" RELATED [GARD:0004358] synonym: "severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome" EXACT [DOID:0060769, Orphanet:169095] synonym: "T-cell immunodeficiency, congenital alopecia and nail dystrophy" RELATED [GARD:0004358] synonym: "T-cell immunodeficiency, congenital alopecia, and nail dystrophy" EXACT [OMIM:601705] synonym: "winged helix deficiency" EXACT [DOID:0060769, Orphanet:169095] xref: DOID:0060769 {source="MONDO:equivalentTo"} xref: MESH:C536781 {source="MONDO:equivalentTo"} xref: OMIM:601705 {source="Orphanet:169095/e", source="MONDO:equivalentTo", source="DOID:0060769", source="Orphanet:169095"} xref: Orphanet:169095 {source="MONDO:equivalentTo", source="DOID:0060769", source="OMIM:601705"} xref: SCTID:720345008 {source="MONDO:equivalentTo"} xref: UMLS:C1866426 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:601705"} is_a: MONDO:0015974 {source="DOID:0060769", source="MESH:C536781"} ! severe combined immunodeficiency relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch DOID:0060769 property_value: exactMatch http://identifiers.org/mesh/C536781 property_value: exactMatch http://identifiers.org/snomedct/720345008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866426 property_value: exactMatch https://omim.org/entry/601705 property_value: exactMatch Orphanet:169095 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4358/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy xsd:anyURI {source="GARD:0004358"} [Term] id: MONDO:0011133 name: deaf blind hypopigmentation syndrome, Yemenite type def: "Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss." [Orphanet:3214] subset: ordo_malformation_syndrome {source="Orphanet:3214"} synonym: "Warburg Thomsen syndrome" RELATED [GARD:0005535] synonym: "Warburg-Thomsen syndrome" EXACT [Orphanet:3214] synonym: "Yemenite (Warburg) deaf-blind hypopigmentation syndrome" RELATED [GARD:0005535] synonym: "Yemenite deaf-blind hypopigmentation syndrome" EXACT [OMIM:601706, Orphanet:3214] xref: MESH:C536771 {source="Orphanet:3214", source="MONDO:equivalentTo", source="Orphanet:3214/e"} xref: OMIM:601706 {source="Orphanet:3214", source="MONDO:equivalentTo", source="Orphanet:3214/e"} xref: Orphanet:3214 {source="MONDO:equivalentTo", source="OMIM:601706"} xref: SCTID:721084001 {source="MONDO:equivalentTo"} xref: UMLS:C1866425 {source="Orphanet:3214", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3214/e", source="OMIM:601706"} is_a: MONDO:0019290 {source="MESH:C536771", source="Orphanet:3214"} ! hypopigmentation of the skin property_value: exactMatch http://identifiers.org/mesh/C536771 property_value: exactMatch http://identifiers.org/snomedct/721084001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866425 property_value: exactMatch https://omim.org/entry/601706 property_value: exactMatch Orphanet:3214 [Term] id: MONDO:0011134 name: Curry-Jones syndrome def: "Curry-Jones syndrome is a form of syndromic craniosynostosis, characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported." [Orphanet:1553] subset: gard_rare {source="GARD:0005584"} subset: ordo_malformation_syndrome {source="Orphanet:1553"} synonym: "corpus callosum agenesis polysyndactyly" RELATED [GARD:0005584] synonym: "corpus callosum agenesis-polysyndactyly syndrome" EXACT [Orphanet:1553] synonym: "craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development" RELATED [OMIM:601707] synonym: "CRJS" RELATED ABBREVIATION [OMIM:601707] synonym: "curry Jones syndrome" RELATED [GARD:0005584] synonym: "curry-JONES syndrome" RELATED [OMIM:601707] synonym: "curry-Jones syndrome" EXACT [OMIM:601707] synonym: "Curry-Jones syndrome, somatic mosaic" EXACT [OMIM:601707, OMIM:genemap2] xref: MESH:C536735 {source="MONDO:equivalentTo"} xref: OMIM:601707 {source="Orphanet:1553", source="MONDO:equivalentTo", source="Orphanet:1553/e"} xref: Orphanet:1553 {source="MONDO:equivalentTo", source="OMIM:601707"} xref: SCTID:720819006 {source="MONDO:equivalentTo"} xref: UMLS:C0795915 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:601707"} is_a: MONDO:0015160 {source="Orphanet:1553"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0015338 {source="Orphanet:1553"} ! syndromic craniosynostosis property_value: exactMatch http://identifiers.org/mesh/C536735 property_value: exactMatch http://identifiers.org/snomedct/720819006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795915 property_value: exactMatch https://omim.org/entry/601707 property_value: exactMatch Orphanet:1553 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5584/curry-jones-syndrome xsd:anyURI {source="GARD:0005584"} [Term] id: MONDO:0011136 name: Quebec platelet disorder def: "Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds." [Orphanet:220436] subset: gard_rare {source="GARD:0008345"} subset: ordo_disease {source="Orphanet:220436"} synonym: "BDPLT5" EXACT ABBREVIATION [DOID:0111050] synonym: "bleeding disorder, platelet-type, 5" RELATED [OMIM:601709] synonym: "factor 5 Quebec" RELATED [OMIM:601709] synonym: "factor V Quebec" EXACT [DOID:0111050, Orphanet:220436] synonym: "platelet-type bleeding disorder 5" EXACT [DOID:0111050] synonym: "QPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601709] synonym: "Quebec platelet disorder" EXACT [MONDO:Lexical, OMIM:601709] xref: DOID:0111050 {source="MONDO:equivalentTo"} xref: MESH:C536260 {source="DOID:0111050", source="MONDO:equivalentTo", source="Orphanet:220436", source="Orphanet:220436/e"} xref: OMIM:601709 {source="DOID:0111050", source="MONDO:equivalentTo", source="Orphanet:220436", source="Orphanet:220436/e"} xref: Orphanet:220436 {source="OMIM:601709", source="DOID:0111050", source="MONDO:equivalentTo"} xref: UMLS:C1866423 {source="OMIM:601709", source="DOID:0111050", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:220436", source="Orphanet:220436/e"} is_a: MONDO:0000009 {source="DC-OMIM:601709", source="MONDO:Redundant", source="OMIM:601709"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0020117 {source="Orphanet:220436"} ! alpha granule disease property_value: exactMatch DOID:0111050 property_value: exactMatch http://identifiers.org/mesh/C536260 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866423 property_value: exactMatch https://omim.org/entry/601709 property_value: exactMatch Orphanet:220436 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8345/quebec-platelet-disorder xsd:anyURI {source="GARD:0008345"} [Term] id: MONDO:0011138 name: systemic lupus erythematosus, susceptibility to, 1 def: "Any systemic lupus erythematosus in which the cause of the disease is a mutation in the TLR5 gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition synonym: "SLEB1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601744] synonym: "susceptibility to systemic lupus erythematosus 1" EXACT [OMIM:601744] synonym: "systemic lupus erythematosus (disease) caused by mutation in TLR5" EXACT [] synonym: "systemic lupus erythematosus, resistance to" EXACT [OMIM:601744, OMIM:genemap2] synonym: "systemic lupus erythematosus, resistance to, 1" EXACT [OMIM:601744] synonym: "systemic lupus erythematosus, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:601744] synonym: "systemic lupus erythematosus, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:601744] synonym: "TLR5 systemic lupus erythematosus (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: OMIM:601744 {source="MONDO:equivalentTo"} is_a: MONDO:0020573 ! inherited disease susceptibility relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus property_value: exactMatch https://omim.org/entry/601744 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011142 name: Ehlers-Danlos syndrome, musculocontractural type def: "Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations." [Orphanet:2953] subset: ordo_disease {source="Orphanet:2953"} synonym: "adducted thumb clubfoot syndrome" RELATED [GARD:0008486] synonym: "adducted thumb, clubfoot, and progressive joint and skin laxity syndrome" RELATED [MESH:C000600608, OMIM:601776] synonym: "adducted thumb-club foot syndrome" RELATED [GARD:0000545] synonym: "adducted thumb-clubfoot syndrome" EXACT [MESH:C000600608, OMIM:601776, Orphanet:2953] synonym: "adducted thumbs Dundar type" RELATED [MESH:C000600608] synonym: "adducted thumbs-arthrogryposis syndrome, Dundar type" EXACT [Orphanet:2953] synonym: "arthrogryposis, distal, with peculiar facies and hydronephrosis" RELATED [MESH:C000600608, OMIM:601776] synonym: "ATCS" EXACT ABBREVIATION [MESH:C000600608, Orphanet:2953] synonym: "autosomal recessive adducted thumb-club foot syndrome" RELATED [GARD:0008486] synonym: "CHST14-related EDS" EXACT [Orphanet:2953] synonym: "CHST14-related Ehlers-Danlos syndrome" EXACT [Orphanet:2953] synonym: "D4ST1-deficient EDS" EXACT [Orphanet:2953] synonym: "D4ST1-deficient Ehlers-Danlos syndrome" EXACT [Orphanet:2953] synonym: "Dundar syndrome" RELATED [MESH:C000600608, OMIM:601776] synonym: "EDS, arthrogryposic type" EXACT [Orphanet:2953] synonym: "EDS, Kosho type" EXACT [Orphanet:2953] synonym: "EDS, musculocontractural type" EXACT [Orphanet:2953] synonym: "EDS6B, formerly" RELATED [MESH:C000600608] synonym: "EDSMC" RELATED ABBREVIATION [MESH:C000600608] synonym: "EDSmc" RELATED [OMIM:601776] synonym: "EDSMC1" RELATED ABBREVIATION [MESH:C000600608, MONDO:Lexical, OMIM:601776] synonym: "Ehlers-Danlos syndrome, arthrogryposic type" EXACT [Orphanet:2953] synonym: "Ehlers-Danlos syndrome, Kosho type" EXACT [Orphanet:2953] synonym: "Ehlers-Danlos syndrome, musculocontractural type 1" RELATED [MONDO:Lexical, OMIM:601776] synonym: "Ehlers-Danlos syndrome, musculocontractural type, 1" RELATED [MESH:C000600608, OMIM:601776] synonym: "Ehlers-Danlos syndrome, type Vib" RELATED [OMIM:601776] synonym: "Ehlers-Danlos syndrome, type VIB, formerly" RELATED [MESH:C000600608] synonym: "Ehlers-Danlos syndrome, type Vib, formerly" RELATED [OMIM:601776] synonym: "MCEDS" EXACT ABBREVIATION [Orphanet:2953] synonym: "musculocontractural EDS" RELATED [GARD:0008486] synonym: "musculocontractural Ehlers-Danlos syndrome" EXACT [Orphanet:2953] xref: MESH:C000600608 {source="MONDO:equivalentTo"} xref: Orphanet:2953 {source="MONDO:equivalentTo"} xref: SCTID:720860004 {source="MONDO:equivalentTo"} is_a: EFO:0003777 {source="MONDO:0018290-obsoleted"} ! heart disease is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0017742 {source="Orphanet:2953"} ! disorder of O-xylosylglycan synthesis is_a: MONDO:0019942 {source="Orphanet:2953"} ! distal arthrogryposis is_a: MONDO:0020066 {source="DC-OMIM:601776", source="MESH:C000600608", source="OMIM:601776", source="Orphanet:2953"} ! Ehlers-Danlos syndrome property_value: exactMatch http://identifiers.org/mesh/C000600608 property_value: exactMatch http://identifiers.org/snomedct/720860004 property_value: exactMatch Orphanet:2953 property_value: excluded_subClassOf MONDO:0005093 property_value: excluded_subClassOf MONDO:0019743 {source="MONDO:0018294-obsoleted"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5682 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/545/adducted-thumbs-dundar-type xsd:anyURI {source="GARD:0000545"} [Term] id: MONDO:0011144 name: ceroid lipofuscinosis, neuronal, 6A def: "A rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (loss of previously acquired skills). It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. CLN6-NCL is caused by changes (mutations) in the CLN6 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." [https://rarediseases.info.nih.gov/diseases/1224/neuronal-ceroid-lipofuscinosis-6] subset: clingen subset: gard_rare {source="GARD:0001224"} subset: ordo_etiological_subtype {source="Orphanet:228363"} synonym: "ceroid lipofuscinosis, neuronal, 6" RELATED [MONDO:Lexical, OMIM:601780] synonym: "ceroid lipofuscinosis, neuronal, 6, variable age at onset" RELATED [OMIM:601780] synonym: "ceroid lipofuscinosis, neuronal, type 6" EXACT [MONDORULE:1, OMIM:601780] synonym: "CLN6" EXACT ABBREVIATION [DOID:0110729, MONDO:Lexical, OMIM:601780] synonym: "CLN6 disease" RELATED [Orphanet:228363] synonym: "CLN6 disease, adult Kufs type A (subtype)" RELATED [GARD:0001224] synonym: "CLN6 disease, late infantile (subtype)" RELATED [GARD:0001224] synonym: "CLN6 late infantile neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CLN6A" EXACT [OMIM:601780] synonym: "late infantile neuronal ceroid lipofuscinosis caused by mutation in CLN6" EXACT [MONDO:design_pattern] synonym: "neuronal ceroid lipofuscinosis 6" EXACT [DOID:0110729] synonym: "neuronal ceroid lipofuscinosis 6 variable age of onset" EXACT [DOID:0110729] synonym: "neuronal ceroid lipofuscinosis type 6" EXACT [DOID:0110729, MONDORULE:1] synonym: "neuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant" RELATED [GARD:0001224] synonym: "neuronal ceroid lipofuscinosis, late infantile, variant" EXACT [OMIM:601780] synonym: "vLINCL" EXACT ABBREVIATION [OMIM:601780] xref: DOID:0110729 {source="MONDO:equivalentTo"} xref: MESH:C566627 {source="MONDO:equivalentTo"} xref: OMIM:601780 {source="Orphanet:228363/e", source="MONDO:equivalentTo", source="DOID:0110729", source="Orphanet:228363"} xref: Orphanet:228363 {source="MONDO:equivalentTo", source="DOID:0110729", source="OMIM:601780"} is_a: MONDO:0008768 ! ceroid lipofuscinosis, neuronal, 6B (Kufs type) is_a: MONDO:0015674 {source="MONDO:Redundant", source="Orphanet:168491/btnt", source="Orphanet:228363"} ! late infantile neuronal ceroid lipofuscinosis property_value: exactMatch DOID:0110729 property_value: exactMatch http://identifiers.org/mesh/C566627 property_value: exactMatch https://omim.org/entry/601780 property_value: exactMatch Orphanet:228363 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1224/neuronal-ceroid-lipofuscinosis-6 xsd:anyURI {source="GARD:0001224"} [Term] id: MONDO:0011145 name: colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome subset: ordo_disease {source="Orphanet:363741"} synonym: "coloboma-obesity-hypogenitalism-intellectual disability syndrome" RELATED [OMIM:601794] synonym: "coloboma-obesity-hypogenitalism-mental retardation syndrome" RELATED DEPRECATED [OMIM:601794] xref: MESH:C566623 {source="MONDO:equivalentTo"} xref: OMIM:601794 {source="MONDO:equivalentTo", source="Orphanet:363741", source="Orphanet:363741/e"} xref: Orphanet:363741 {source="OMIM:601794", source="MONDO:equivalentTo"} xref: UMLS:C1866256 {source="OMIM:601794", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:363741"} is_a: MONDO:0015159 {source="Orphanet:363741"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0016073 {source="Orphanet:363741"} ! syndromic microphthalmia is_a: MONDO:0016565 {source="Orphanet:363741"} ! syndromic genetic obesity property_value: exactMatch http://identifiers.org/mesh/C566623 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866256 property_value: exactMatch https://omim.org/entry/601794 property_value: exactMatch Orphanet:363741 [Term] id: MONDO:0011146 name: tetrasomy 12p def: "Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p." [Orphanet:884] subset: ordo_malformation_syndrome {source="Orphanet:884"} synonym: "chromosome 12, Isochromosome 12p syndrome" RELATED [GARD:0008421] synonym: "Hexasomy 12P, Mosaic" RELATED [OMIM:601803] synonym: "Isochromosome 12p mosaicism" EXACT [Orphanet:884] synonym: "Isochromosome 12P syndrome" RELATED [OMIM:601803] synonym: "Isochromosome 12p syndrome" EXACT [Orphanet:884] synonym: "Killian syndrome" RELATED [GARD:0008421] synonym: "Killian Teschler-Nicola syndrome" RELATED [GARD:0008421] synonym: "Pallister Killian syndrome" RELATED [GARD:0008421] synonym: "Pallister mosaic syndrome" RELATED [GARD:0008421] synonym: "Pallister-Killian mosaic syndrome" RELATED [GARD:0008421] synonym: "Pallister-Killian syndrome" EXACT [MONDO:Lexical, OMIM:601803, Orphanet:884] synonym: "Pallister-Killian syndrome, Somatic mosaicism" EXACT [OMIM:601803, OMIM:genemap2] synonym: "PKS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601803] synonym: "Teschler-Nicola Killian syndrome" RELATED [GARD:0008421] synonym: "tetrasomy 12P, Mosaic" RELATED [OMIM:601803] synonym: "tetrasomy type 12p" EXACT [MONDORULE:4, Orphanet:884] xref: ICD9:758.81 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538105 {source="MONDO:equivalentTo"} xref: NCIT:C75458 {source="MONDO:equivalentTo"} xref: OMIM:601803 {source="Orphanet:884", source="MONDO:equivalentTo", source="Orphanet:884/e"} xref: Orphanet:884 {source="MONDO:equivalentTo", source="OMIM:601803"} xref: SCTID:9527009 {source="MONDO:equivalentTo"} xref: UMLS:C0265449 {source="Orphanet:884", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:884/e", source="OMIM:601803", source="NCIT:C75458"} is_a: MONDO:0015246 {source="Orphanet:884"} ! syndromic anorectal malformation is_a: MONDO:0016933 {source="Orphanet:884"} ! partial trisomy/tetrasomy of the short arm of chromosome 12 is_a: MONDO:0019716 ! overgrowth syndrome property_value: exactMatch http://identifiers.org/mesh/C538105 property_value: exactMatch http://identifiers.org/snomedct/9527009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265449 property_value: exactMatch https://omim.org/entry/601803 property_value: exactMatch NCIT:C75458 property_value: exactMatch Orphanet:884 property_value: excluded_subClassOf MONDO:0005027 {source="MONDO:0015652-obsoleted"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011147 name: chromosome 18q deletion syndrome def: "A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts." [NCIT:C84522] subset: disease_grouping subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1600"} synonym: "18q deletion syndrome" EXACT [NCIT:C84522] synonym: "18Q syndrome" EXACT [NCIT:C84522] synonym: "18Q- syndrome" RELATED [OMIM:601808] synonym: "18q-syndrome" EXACT [DOID:0060407, NCIT:C84522, Orphanet:1600] synonym: "chromosome 18q deletion" RELATED [GARD:0013000] synonym: "chromosome 18q deletion syndrome" EXACT [OMIM:601808] synonym: "chromosome 18Q- syndrome" RELATED [OMIM:601808] synonym: "deletion 18q" EXACT [DOID:0060407, Orphanet:1600] synonym: "deletion 18q syndrome" EXACT [NCIT:C84522] synonym: "monosomy 18q" EXACT [DOID:0060407] synonym: "monosomy 18q syndrome" RELATED [GARD:0010866] synonym: "monosomy type 18q" EXACT [MONDORULE:4, Orphanet:1600] synonym: "partial deletion of chromosome 18q" EXACT [Orphanet:262146] synonym: "partial deletion of the long arm of chromosome 18" EXACT [MONDO:0016916] synonym: "partial deletion of the long arm of chromosome type 18" EXACT [MONDORULE:2, Orphanet:262146] synonym: "partial monosomy of chromosome 18q" EXACT [Orphanet:262146] synonym: "partial monosomy of the long arm of chromosome 18" EXACT [Orphanet:262146] synonym: "proximal 18q deletion" NARROW [GARD:0010866] synonym: "proximal 18q deletion syndrome" NARROW [GARD:0010866] synonym: "proximal 18q-" NARROW [GARD:0010866] synonym: "proximal chromosome 18q deletion syndrome" NARROW [GARD:0010866] xref: DOID:0060407 {source="MONDO:equivalentTo"} xref: ICD9:758.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536580 {source="MONDO:equivalentTo", source="DOID:0060407"} xref: NCIT:C84522 {source="MONDO:equivalentTo"} xref: OMIM:601808 {source="MONDO:equivalentTo", source="Orphanet:1600", source="Orphanet:1600/e", source="DOID:0060407"} xref: Orphanet:1600 {source="OMIM:601808", source="MONDO:equivalentTo", source="DOID:0060407"} xref: Orphanet:262146 {source="MONDO:equivalentTo"} xref: SCTID:270889005 {source="MONDO:equivalentTo"} xref: UMLS:C0432443 {source="OMIM:601808", source="MONDO:equivalentTo", source="Orphanet:1600", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1600/e", source="NCIT:C84522"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84522"} ! syndromic disease is_a: MONDO:0016880 {source="Orphanet:262146"} ! partial deletion of chromosome 18 relationship: disease_has_major_feature MONDO:0005129 {source="https://github.com/monarch-initiative/mondo/issues/1520", source="https://orcid.org/0000-0001-5208-3432"} ! cataract property_value: exactMatch DOID:0060407 property_value: exactMatch http://identifiers.org/mesh/C536580 property_value: exactMatch http://identifiers.org/snomedct/270889005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432443 property_value: exactMatch https://omim.org/entry/601808 property_value: exactMatch NCIT:C84522 property_value: exactMatch Orphanet:1600 property_value: exactMatch Orphanet:262146 property_value: excluded_subClassOf MONDO:0005027 {source="MONDO:0015652-obsoleted"} property_value: excluded_subClassOf MONDO:0015501 {source="Orphanet:1600"} property_value: excluded_subClassOf MONDO:0020226 {source="Orphanet:1600"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0011150 name: acroosteolysis-keloid-like lesions-premature aging syndrome subset: gard_rare subset: ordo_disease {source="Orphanet:363665"} synonym: "PENTT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601812] synonym: "Penttinen-aula syndrome" RELATED [GARD:0004276] synonym: "premature ageing syndrome Penttinen type" RELATED OMO:0003005 [] synonym: "premature ageing syndrome, Penttinen type" EXACT OMO:0003005 [] synonym: "premature aging syndrome Penttinen type" RELATED [GARD:0004276] synonym: "premature aging syndrome, Penttinen type" EXACT [GARD:0004498, MONDO:Lexical, OMIM:601812, Orphanet:363665] synonym: "prematurely aged appearance, delayed bone maturation, acro-osteolysis, and brachydactyly" RELATED [GARD:0004276] synonym: "progeroid syndrome, Penttinen type" RELATED [GARD:0004498] xref: MESH:C536653 {source="MONDO:equivalentTo"} xref: OMIM:601812 {source="GARD:0004498", source="MONDO:equivalentTo", source="Orphanet:363665", source="Orphanet:363665/e", source="GARD:0004276"} xref: Orphanet:363665 {source="MONDO:equivalentTo", source="OMIM:601812"} xref: UMLS:C1866182 {source="MONDO:equivalentTo", source="Orphanet:363665", source="MONDO:ncbi_mim2gene_medline", source="OMIM:601812", source="GARD:0004276"} is_a: MONDO:0019303 {source="Orphanet:363665"} ! premature aging syndrome property_value: exactMatch http://identifiers.org/mesh/C536653 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866182 property_value: exactMatch https://omim.org/entry/601812 property_value: exactMatch Orphanet:363665 property_value: excluded_subClassOf MONDO:0015333 {source="Orphanet:363665"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1567 xsd:anyURI [Term] id: MONDO:0011152 name: PHGDH deficiency def: "3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form" [Orphanet:79351] subset: ordo_disease {source="Orphanet:79351"} synonym: "3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form" RELATED [Orphanet:79351] synonym: "PHGDH deficiency" EXACT [OMIM:601815] synonym: "PHGDHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601815] synonym: "PHOSPHOGLYCERATE dehydrogenase deficiency" EXACT [DOID:0050722, MONDO:Lexical, OMIM:601815] xref: DOID:0050722 {source="MONDO:equivalentTo"} xref: MESH:C566618 {source="MONDO:equivalentTo"} xref: OMIM:601815 {source="DOID:0050722", source="MONDO:equivalentTo", source="Orphanet:79351", source="Orphanet:79351/e"} xref: Orphanet:79351 {source="MONDO:equivalentTo", source="OMIM:601815"} xref: UMLS:C1866174 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:601815"} is_a: MONDO:0018491 {source="Orphanet:79351"} ! 3-phosphoglycerate dehydrogenase deficiency relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: exactMatch DOID:0050722 property_value: exactMatch http://identifiers.org/mesh/C566618 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866174 property_value: exactMatch https://omim.org/entry/601815 property_value: exactMatch Orphanet:79351 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:79351"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0011153 name: hyperinsulinemic hypoglycemia, familial, 2 def: "Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the KCNJ11 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare synonym: "HHF2" RELATED ABBREVIATION [GARD:0009927, MONDO:Lexical, OMIM:601820] synonym: "hyperinsulinemic hypoglycemia (disease) caused by mutation in KCNJ11" EXACT [] synonym: "hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia" RELATED [OMIM:601820] synonym: "hyperinsulinemic hypoglycemia due to Kir6.2 deficiency" EXACT [MONDO:cjm] synonym: "hyperinsulinemic hypoglycemia familial 2" RELATED [GARD:0009927] synonym: "hyperinsulinemic hypoglycemia, familial, 2" EXACT [MONDO:Lexical, OMIM:601820] synonym: "hyperinsulinemic hypoglycemia, familial, type 2" EXACT [MONDORULE:1, OMIM:601820] synonym: "hyperinsulinemic hypoglycemia, persistent" RELATED [OMIM:601820] synonym: "hyperinsulinism, congenital" RELATED [OMIM:601820] synonym: "hyperinsulinism, familial" RELATED [OMIM:601820] synonym: "hyperinsulinism, neonatal" RELATED [OMIM:601820] synonym: "KCNJ11 hyperinsulinemic hypoglycemia (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "nesidioblastosis" RELATED [OMIM:601820] synonym: "persistent hyperinsulinemic hypoglycemia of infancy" RELATED [OMIM:601820] xref: DOID:0070218 {source="MONDO:equivalentTo"} xref: OMIM:601820 {source="MONDO:equivalentTo", source="GARD:0009927"} xref: UMLS:C2931833 {source="MONDO:equivalentTo", source="GARD:0009927", source="OMIM:601820"} is_a: MONDO:0019010 ! congenital isolated hyperinsulinism property_value: exactMatch DOID:0070218 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931833 property_value: exactMatch https://omim.org/entry/601820 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9927/hyperinsulinemic-hypoglycemia-familial-2 xsd:anyURI {source="GARD:0009927"} [Term] id: MONDO:0011154 name: acrofacial dysostosis, Palagonia type def: "Acrofacial dysostosis, Palagonia type is a very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia, characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997." [Orphanet:1787] subset: ordo_malformation_syndrome {source="Orphanet:1787"} synonym: "acrofacial dysostosis Palagonia type" RELATED [GARD:0000499] synonym: "acrofacial dysostosis, Palagonia type" EXACT [OMIM:601829] synonym: "acrofacial dysostosis, Patagonia type" EXACT MISSPELLING [DOID:0060385] synonym: "AFD- Palagonia type" RELATED [GARD:0000499] synonym: "PAFD" RELATED ABBREVIATION [GARD:0000499] synonym: "Palagonia form of AFD" RELATED [GARD:0000499] synonym: "Palagonia type of acrofacial dysostosis" EXACT [MESH:C538185] xref: DOID:0060385 {source="MONDO:equivalentTo"} xref: MESH:C538185 {source="DOID:0060385", source="MONDO:equivalentTo", source="Orphanet:1787", source="Orphanet:1787/e"} xref: OMIM:601829 {source="DOID:0060385", source="MONDO:equivalentTo", source="Orphanet:1787", source="Orphanet:1787/e"} xref: Orphanet:1787 {source="DOID:0060385", source="MONDO:equivalentTo", source="OMIM:601829"} xref: SCTID:720429007 {source="MONDO:equivalentTo"} xref: UMLS:C1866168 {source="DOID:0060385", source="MONDO:equivalentTo", source="Orphanet:1787", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1787/e", source="OMIM:601829"} is_a: MONDO:0015334 {source="Orphanet:1787"} ! branchial arch or oral-acral syndrome is_a: MONDO:0018237 {source="DC-OMIM:601829", source="DOID:0060385", source="Orphanet:1787"} ! acrofacial dysostosis property_value: exactMatch DOID:0060385 property_value: exactMatch http://identifiers.org/mesh/C538185 property_value: exactMatch http://identifiers.org/snomedct/720429007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866168 property_value: exactMatch https://omim.org/entry/601829 property_value: exactMatch Orphanet:1787 [Term] id: MONDO:0011156 name: progressive familial intrahepatic cholestasis type 2 def: "Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome." [Orphanet:79304] subset: gard_rare {source="GARD:0001288"} subset: ordo_clinical_subtype {source="Orphanet:79304"} synonym: "ABCB11 progressive familial intrahepatic cholestasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "BSEP deficiency" EXACT [Orphanet:79304] synonym: "cholestasis, progressive familial intrahepatic 2" EXACT [OMIM:601847, OMIM:genemap2] synonym: "cholestasis, progressive familial intrahepatic, 2" RELATED [MONDO:Lexical, OMIM:601847] synonym: "cholestasis, progressive familial intrahepatic, type 2" EXACT [MONDORULE:1, OMIM:601847] synonym: "PFIC2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601847, Orphanet:79304] synonym: "progressive familial intrahepatic cholestasis caused by mutation in ABCB11" EXACT [MONDO:design_pattern] synonym: "progressive familial intrahepatic cholestasis type 2" EXACT [] synonym: "severe ABCB11 deficiency" RELATED [GARD:0001288] xref: DOID:0070222 {source="MONDO:equivalentTo"} xref: OMIM:601847 {source="Orphanet:79304", source="MONDO:equivalentTo", source="Orphanet:79304/e"} xref: Orphanet:79304 {source="MONDO:equivalentTo", source="OMIM:601847"} xref: UMLS:CN205889 {source="MONDO:equivalentTo"} is_a: MONDO:0011559 ! benign recurrent intrahepatic cholestasis type 2 is_a: MONDO:0015762 {source="MONDO:Redundant", source="OMIM:601847", source="Orphanet:79304"} ! progressive familial intrahepatic cholestasis property_value: exactMatch DOID:0070222 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205889 property_value: exactMatch https://omim.org/entry/601847 property_value: exactMatch Orphanet:79304 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1288/progressive-familial-intrahepatic-cholestasis-type-2 xsd:anyURI {source="GARD:0001288"} [Term] id: MONDO:0011157 name: Gomez-Lopez-Hernandez syndrome def: "A syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behavior and bipolar disorder have also been reported." [Orphanet:1532] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1532"} synonym: "Cerebellotrigeminal dermal dysplasia" RELATED [GARD:0000229] synonym: "Cerebellotrigeminal dermal dysplasia cerebello-trigeminal-dermal dysplasia" RELATED [OMIM:601853] synonym: "Cerebellotrigeminal-dermal dysplasia" RELATED [GARD:0000229] synonym: "Cerebellotrigeminal-dermal dysplasia syndrome" EXACT [GARD:0000229, Orphanet:1532] synonym: "craniosynostosis-alopecia-brain defect syndrome" EXACT [GARD:0000229, Orphanet:1532] synonym: "GLHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601853] synonym: "Gomez Lopez Hernandez syndrome" RELATED [GARD:0000229] synonym: "GOMEZ-LOPEZ-HERNANDEZ syndrome" RELATED [OMIM:601853] synonym: "Gomez-Lopez-Hernandez syndrome" EXACT [MONDO:Lexical, OMIM:601853] synonym: "Gomez-Lopez-Hernández syndrome" RELATED [GARD:0000229] synonym: "Gómez-López-Hernández syndrome" RELATED [Orphanet:1532] xref: MESH:C537285 {source="MONDO:equivalentTo"} xref: OMIM:601853 {source="Orphanet:1532", source="MONDO:equivalentTo", source="Orphanet:1532/e", source="GARD:0000229"} xref: Orphanet:1532 {source="MONDO:equivalentTo", source="OMIM:601853", source="GARD:0000229"} xref: SCTID:722451006 {source="MONDO:equivalentTo"} is_a: MONDO:0020022 ! central nervous system malformation relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation property_value: exactMatch http://identifiers.org/mesh/C537285 property_value: exactMatch http://identifiers.org/snomedct/722451006 property_value: exactMatch https://omim.org/entry/601853 property_value: exactMatch Orphanet:1532 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:1532"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/229/gomez-lopez-hernandez-syndrome xsd:anyURI {source="GARD:0000229"} [Term] id: MONDO:0011163 name: malignant hyperthermia, susceptibility to, 5 def: "Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the CACNA1S gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare subset: predisposition synonym: "CACNA1S malignant hyperthermia of anaesthesia" EXACT OMO:0003005 [] synonym: "CACNA1S malignant hyperthermia of anesthesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "malignant hyperpyrexia susceptibility type 5" RELATED [GARD:0003367, MESH:C535698] synonym: "malignant hyperthermia of anaesthesia caused by mutation in CACNA1S" EXACT OMO:0003005 [] synonym: "malignant hyperthermia of anesthesia caused by mutation in CACNA1S" EXACT [MONDO:design_pattern] synonym: "malignant hyperthermia susceptibility 5" EXACT [OMIM:601887, OMIM:genemap2] synonym: "malignant hyperthermia susceptibility type 5" RELATED [GARD:0003367] synonym: "malignant hyperthermia, susceptibility to, 5" EXACT [MESH:C535698, OMIM:601887] synonym: "malignant hyperthermia, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:601887] synonym: "MHS5" RELATED ABBREVIATION [GARD:0003367, MESH:C535698] synonym: "Mhs5" RELATED [OMIM:601887] synonym: "susceptibility to malignant hyperthermia 5" RELATED [OMIM:601887] xref: MESH:C535698 {source="MONDO:equivalentTo"} xref: OMIM:601887 {source="GARD:0003367", source="MONDO:equivalentTo"} is_a: MONDO:0800188 {source="DC-OMIM:601887", source="MESH:C535698", source="MONDO:Redundant", source="OMIM:601887"} ! malignant hyperthermia, susceptibility to relationship: predisposes_towards MONDO:0018493 ! malignant hyperthermia of anesthesia property_value: exactMatch http://identifiers.org/mesh/C535698 property_value: exactMatch https://omim.org/entry/601887 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4882 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3367/malignant-hyperthermia-susceptibility-type-5 xsd:anyURI {source="GARD:0003367"} [Term] id: MONDO:0011166 name: lymphedema-atrial septal defects-facial changes syndrome def: "Lymphedema-atrial septal defects-facial changes syndrome is characterized by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive." [Orphanet:86915] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:86915"} synonym: "autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes" RELATED [GARD:0000284, MESH:C535539] synonym: "Irons Bhan syndrome" RELATED [GARD:0000284] synonym: "Irons-Bhan syndrome" EXACT [Orphanet:86915] synonym: "Irons-Bianchi syndrome" EXACT [OMIM:601927, Orphanet:86915] synonym: "lymphedema, atrial septal defect, and characteristic facial changes" RELATED [GARD:0000284, MESH:C535539] synonym: "lymphedema, atrial septal defect, and characteristic facies" RELATED [OMIM:601927] synonym: "lymphedema, CARDIAC septal defects, and characteristic facies" RELATED [OMIM:601927] xref: MESH:C535539 {source="MONDO:equivalentTo"} xref: MESH:C567398 {source="MONDO:equivalentTo"} xref: OMIM:601927 {source="Orphanet:86915/e", source="MONDO:equivalentTo", source="Orphanet:86915", source="GARD:0000284"} xref: Orphanet:86915 {source="MONDO:equivalentTo", source="OMIM:601927"} xref: SCTID:721978002 {source="MONDO:equivalentTo"} is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema is_a: MONDO:0019520 {source="Orphanet:86915"} ! syndromic lymphedema property_value: exactMatch http://identifiers.org/mesh/C535539 property_value: exactMatch http://identifiers.org/mesh/C567398 property_value: exactMatch http://identifiers.org/snomedct/721978002 property_value: exactMatch https://omim.org/entry/601927 property_value: exactMatch Orphanet:86915 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/284/irons-bhan-syndrome xsd:anyURI {source="GARD:0000284"} [Term] id: MONDO:0011169 name: keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome def: "Keratosis linearis-ichthyosis congenita-sclerosing keratoderma (KLICK) syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities." [Orphanet:281201] subset: ordo_disease {source="Orphanet:281201"} synonym: "keratosis linearis with ichthyosis congenita and sclerosing keratoderma" RELATED [OMIM:601952] synonym: "keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome" EXACT [] synonym: "KLICK" RELATED ABBREVIATION [OMIM:601952] synonym: "KLICK syndrome" EXACT [Orphanet:281201] synonym: "Klick syndrome" RELATED [OMIM:601952] xref: MESH:C566600 {source="MONDO:equivalentTo"} xref: OMIM:601952 {source="Orphanet:281201/e", source="MONDO:equivalentTo", source="Orphanet:281201"} xref: Orphanet:281201 {source="MONDO:equivalentTo", source="OMIM:601952"} xref: SCTID:763775000 {source="MONDO:equivalentTo"} xref: UMLS:C1866029 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:601952", source="Orphanet:281201"} is_a: MONDO:0017262 {source="Orphanet:281201", source="PMID:20643494"} ! inherited non-syndromic ichthyosis is_a: MONDO:0017667 ! isolated diffuse palmoplantar keratoderma is_a: MONDO:0017670 {source="Orphanet:281201"} ! autosomal dominant diffuse mutilating palmoplantar keratoderma property_value: exactMatch http://identifiers.org/mesh/C566600 property_value: exactMatch http://identifiers.org/snomedct/763775000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866029 property_value: exactMatch https://omim.org/entry/601952 property_value: exactMatch Orphanet:281201 [Term] id: MONDO:0011170 name: autosomal recessive limb-girdle muscular dystrophy type 2G def: "Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed." [Orphanet:34514] subset: ordo_disease {source="Orphanet:34514"} synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TCAP" EXACT [] synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in Tcap" EXACT [MONDO:design_pattern] synonym: "LGMD2G" EXACT ABBREVIATION [DOID:0110281, MONDO:Lexical, OMIM:601954, Orphanet:34514] synonym: "limb-girdle muscular dystrophy due to telethonin deficiency" EXACT [DOID:0110281, Orphanet:34514] synonym: "limb-girdle muscular dystrophy, type 2G" RELATED [GARD:0010471] synonym: "muscular dystrophy, limb-girdle, autosomal recessive 7" EXACT [OMIM:601954, OMIM:genemap2] synonym: "muscular dystrophy, limb-girdle, type 2G" EXACT [DOID:0110281, MONDO:Lexical, OMIM:601954] synonym: "TCAP autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Tcap autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern] xref: DOID:0110281 {source="MONDO:equivalentTo"} xref: MESH:C566599 {source="MONDO:equivalentTo"} xref: OMIM:601954 {source="Orphanet:34514", source="MONDO:equivalentTo", source="DOID:0110281", source="Orphanet:34514/e"} xref: Orphanet:34514 {source="MONDO:equivalentTo", source="DOID:0110281", source="OMIM:601954"} xref: SCTID:720522001 {source="MONDO:equivalentTo"} is_a: MONDO:0015152 {source="DOID:0110281", source="MONDO:Redundant", source="OMIM:601954", source="Orphanet:34514"} ! autosomal recessive limb-girdle muscular dystrophy is_a: MONDO:0016192 {source="Orphanet:34514"} ! qualitative or quantitative defects of telethonin property_value: exactMatch DOID:0110281 property_value: exactMatch http://identifiers.org/mesh/C566599 property_value: exactMatch http://identifiers.org/snomedct/720522001 property_value: exactMatch https://omim.org/entry/601954 property_value: exactMatch Orphanet:34514 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011171 name: odonto-tricho-ungual-digito-palmar syndrome def: "Odonto-tricho-ungual-digito-palmar syndrome is characterized by neonatal teeth, trichodystrophy and malformations of the hands and feet. To date, it has been reported in 21 patients and is transmitted as an autosomal dominant trait." [Orphanet:69082] subset: ordo_malformation_syndrome {source="Orphanet:69082"} synonym: "odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type" EXACT [Orphanet:69082] synonym: "ODONTOTRICHOUNGUAL-digital-palmar syndrome" RELATED [OMIM:601957] synonym: "OTUDP syndrome" EXACT [Orphanet:69082] synonym: "Otudp syndrome" RELATED [OMIM:601957] xref: MESH:C566598 {source="MONDO:equivalentTo"} xref: OMIM:601957 {source="Orphanet:69082", source="MONDO:equivalentTo", source="Orphanet:69082/e"} xref: Orphanet:69082 {source="MONDO:equivalentTo", source="OMIM:601957"} xref: SCTID:722063009 {source="MONDO:equivalentTo"} xref: UMLS:C1865998 {source="Orphanet:69082", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:601957"} is_a: MONDO:0019287 {source="MESH:C566598", source="Orphanet:69082"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C566598 property_value: exactMatch http://identifiers.org/snomedct/722063009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865998 property_value: exactMatch https://omim.org/entry/601957 property_value: exactMatch Orphanet:69082 [Term] id: MONDO:0011173 name: thrombocythemia 2 def: "Familial thrombocytosis in which the cause of the disease is a mutation in the MPL gene." [MONDO:patterns/disease_series_by_gene] synonym: "familial thrombocytosis caused by mutation in MPL" EXACT [MONDO:design_pattern] synonym: "MPL familial thrombocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "THCYT2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601977] synonym: "thrombocythemia 2" EXACT [MONDO:Lexical, OMIM:601977] synonym: "thrombocythemia 2, autosomal dominant, somatic mutation" EXACT [OMIM:601977, OMIM:genemap2] synonym: "thrombocythemia type 2" EXACT [MONDORULE:1, OMIM:601977] xref: OMIM:601977 {source="MONDO:equivalentTo"} xref: Orphanet:71493 {source="OMIM:601977", source="MONDO:directSiblingOf"} xref: UMLS:C3275998 {source="MONDO:equivalentTo", source="OMIM:601977"} is_a: MONDO:0019111 {source="OMIMPS:187950"} ! familial thrombocytosis property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3275998 property_value: exactMatch https://omim.org/entry/601977 property_value: excluded_subClassOf MONDO:0005029 {source="MONDO:Redundant"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/230 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011176 name: intestinal hypomagnesemia 1 def: "Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications." [Orphanet:30924] subset: ordo_disease {source="Orphanet:30924"} synonym: "familial primary hypomagnesemia caused by mutation in TRPM6" EXACT [] synonym: "Homg" RELATED [OMIM:602014] synonym: "HOMG1" EXACT ABBREVIATION [DOID:0060883, MONDO:Lexical, OMIM:602014, Orphanet:30924] synonym: "HSH" EXACT ABBREVIATION [Orphanet:30924] synonym: "hypomagnesemia 1, intestinal" RELATED [MONDO:Lexical, OMIM:602014] synonym: "hypomagnesemia caused by selective magnesium malabsorption" EXACT [DOID:0060883, Orphanet:30924] synonym: "hypomagnesemia intestinal type 1" EXACT [DOID:0060883, Orphanet:30924] synonym: "hypomagnesemia with secondary hypocalcemia" RELATED [OMIM:602014] synonym: "hypomagnesemia, intestinal, with secondary hypocalcemia" RELATED [OMIM:602014] synonym: "hypomagnesemic tetany" EXACT [DOID:0060883, OMIM:602014] synonym: "intestinal hypomagnesemia type 1" EXACT [DOID:0060883, MONDORULE:1] synonym: "intestinal hypomagnesemia with secondary hypocalcemia" EXACT [DOID:0060883, Orphanet:30924] synonym: "PHSH" EXACT ABBREVIATION [Orphanet:30924] synonym: "primary hypomagnesemia caused by mutation in TRPM6" EXACT [MONDO:design_pattern] synonym: "primary hypomagnesemia with secondary hypocalcemia" EXACT [DOID:0060883] synonym: "TRPM6 familial primary hypomagnesemia" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "TRPM6 primary hypomagnesemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060883 {source="MONDO:equivalentTo"} xref: MESH:C566593 {source="MONDO:equivalentTo"} xref: OMIM:602014 {source="Orphanet:30924/e", source="DOID:0060883", source="MONDO:equivalentTo", source="Orphanet:30924"} xref: Orphanet:30924 {source="OMIM:602014", source="DOID:0060883", source="MONDO:equivalentTo"} xref: SCTID:190856003 {source="MONDO:equivalentTo"} xref: UMLS:C1865974 {source="OMIM:602014", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:30924"} is_a: MONDO:0017626 {source="Orphanet:30924"} ! familial primary hypomagnesemia with normocalcuria property_value: exactMatch DOID:0060883 property_value: exactMatch http://identifiers.org/mesh/C566593 property_value: exactMatch http://identifiers.org/snomedct/190856003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865974 property_value: exactMatch https://omim.org/entry/602014 property_value: exactMatch Orphanet:30924 [Term] id: MONDO:0011178 name: infantile convulsions and choreoathetosis def: "Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy) and choreoathetotic dyskinetic attacks during childhood or adolescence." [Orphanet:31709] subset: ordo_disease {source="Orphanet:31709"} synonym: "convulsions, familial infantile, with paroxysmal choreoathetosis" RELATED [MONDO:Lexical, OMIM:602066] synonym: "convulsions, infantile, with paroxysmal choreoathetosis, familial" RELATED [GARD:0008553] synonym: "ICCA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602066] synonym: "ICCA syndrome" EXACT [Orphanet:31709] synonym: "Icca syndrome" RELATED [OMIM:602066] synonym: "infantile convulsions and choreoathetosis" EXACT [] synonym: "infantile convulsions and paroxysmal choreoathetosis, familial" RELATED [OMIM:602066] synonym: "paroxysmal kinesigenic dyskinesia and infantile convulsions" EXACT [Orphanet:31709] synonym: "paroxysmal kinesigenic dyskinesia with infantile convulsions" RELATED [OMIM:602066] synonym: "PKD/IC" EXACT [NCIT:C126650] xref: MESH:C535522 {source="MONDO:equivalentTo"} xref: NCIT:C126650 {source="MONDO:equivalentTo"} xref: OMIM:602066 {source="Orphanet:31709/e", source="MONDO:equivalentTo", source="Orphanet:31709"} xref: Orphanet:31709 {source="MONDO:equivalentTo", source="OMIM:602066"} xref: SCTID:715534008 {source="MONDO:equivalentTo"} xref: UMLS:C1865926 {source="NCIT:C126650", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:602066", source="Orphanet:31709"} is_a: MONDO:0002254 {source="NCIT:C126650"} ! syndromic disease is_a: MONDO:0015427 {source="Orphanet:31709"} ! paroxysmal dyskinesia is_a: MONDO:0015642 {source="Orphanet:31709"} ! benign partial infantile seizures is_a: MONDO:0015653 ! monogenic epilepsy property_value: exactMatch http://identifiers.org/mesh/C535522 property_value: exactMatch http://identifiers.org/snomedct/715534008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865926 property_value: exactMatch https://omim.org/entry/602066 property_value: exactMatch NCIT:C126650 property_value: exactMatch Orphanet:31709 [Term] id: MONDO:0011182 name: trimethylaminuria def: "A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals." [Orphanet:468726] synonym: "fish malodor syndrome" RELATED [GARD:0006447] synonym: "fish odor syndrome" EXACT [GARD:0006447, Orphanet:35056] synonym: "fish odour syndrome" EXACT OMO:0003005 [] synonym: "fish-odor syndrome" EXACT [OMIM:602079] synonym: "stale fish syndrome" RELATED [GARD:0006447] synonym: "TMAU" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602079] synonym: "TMAuria" RELATED [GARD:0006447] synonym: "trimethylaminuria" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:602079] synonym: "trimethylaminuria (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0003614 {source="MONDO:otherHierarchy"} xref: Orphanet:35056 {source="OMIM:602079", source="MONDO:equivalentObsolete"} xref: SCTID:237959005 {source="MONDO:equivalentTo"} xref: UMLS:C0342739 {source="OMIM:602079", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0011610 ! dimethylglycine dehydrogenase deficiency property_value: exactMatch http://identifiers.org/snomedct/237959005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342739 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3448 xsd:anyURI property_value: IAO:0000589 "trimethylaminuria (disease)" xsd:string [Term] id: MONDO:0011184 name: childhood apraxia of speech subset: ordo_disease {source="Orphanet:209908"} synonym: "articulatory apraxia" RELATED [GARD:0012889] synonym: "CAS" EXACT ABBREVIATION [Orphanet:209908] synonym: "childhood apraxia of speech" EXACT [OMIM:602081] synonym: "das" RELATED [GARD:0012889] synonym: "developmental apraxia of speech" RELATED [GARD:0012889] synonym: "developmental verbal apraxia" RELATED [GARD:0012889] synonym: "developmental verbal dyspraxia" EXACT [OMIM:602081, Orphanet:209908] synonym: "SPCH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602081] synonym: "speech and language disorder with orofacial dyspraxia" EXACT [OMIM:602081, Orphanet:209908] synonym: "speech-language disorder 1" RELATED [MONDO:Lexical, OMIM:602081] synonym: "speech-language disorder type 1" EXACT [MONDORULE:1, OMIM:602081, Orphanet:209908] synonym: "speech-language disorder-1" RELATED [GARD:0012889] xref: DOID:0111275 {source="MONDO:equivalentTo"} xref: ICD9:315.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:602081 {source="MONDO:equivalentTo", source="Orphanet:209908", source="Orphanet:209908/e"} xref: Orphanet:209908 {source="MONDO:equivalentTo", source="OMIM:602081"} xref: SCTID:229703009 {source="MONDO:equivalentTo"} is_a: MONDO:0016226 {source="Orphanet:209908"} ! specific language disorder property_value: exactMatch DOID:0111275 property_value: exactMatch http://identifiers.org/snomedct/229703009 property_value: exactMatch https://omim.org/entry/602081 property_value: exactMatch Orphanet:209908 [Term] id: MONDO:0011185 name: Thiel-Behnke corneal dystrophy def: "Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment." [Orphanet:98960] subset: gard_rare subset: ordo_disease {source="Orphanet:98960"} synonym: "anterior limiting membrane dystrophy type 2" EXACT [Orphanet:98960] synonym: "anterior limiting membrane dystrophy type II" EXACT [DOID:0060455, Orphanet:98960] synonym: "CDB2" RELATED ABBREVIATION [GARD:0009275] synonym: "CDTB" RELATED ABBREVIATION [GARD:0009275, MONDO:Lexical, OMIM:602082] synonym: "corneal dystrophy honeycomb shaped" RELATED [GARD:0009275] synonym: "corneal dystrophy honeycomb-shaped" EXACT [DOID:0060455] synonym: "corneal dystrophy of Bowman layer type 2" EXACT [Orphanet:98960] synonym: "corneal dystrophy of Bowman layer type II" EXACT [DOID:0060455, Orphanet:98960] synonym: "corneal dystrophy of Bowman Layer, type 2" RELATED [OMIM:602082] synonym: "corneal dystrophy of the Bowman layer type 2" RELATED [GARD:0009275] synonym: "corneal dystrophy Thiel Behnke type" RELATED [GARD:0009275] synonym: "corneal dystrophy, honeycomb-Shaped" RELATED [OMIM:602082] synonym: "corneal dystrophy, Thiel-Behnke type" RELATED [MONDO:Lexical, OMIM:602082] synonym: "curly fiber corneal dystrophy" EXACT [Orphanet:98960] synonym: "curly fibre corneal dystrophy" EXACT OMO:0003005 [] synonym: "honeycomb corneal dystrophy" EXACT [Orphanet:98960] synonym: "TBCD" EXACT ABBREVIATION [DOID:0060455, GARD:0009275, Orphanet:98960] synonym: "Thiel Behnke corneal dystrophy" RELATED [GARD:0009275] synonym: "Thiel-Behnke corneal dystrophy" EXACT [OMIM:602082] synonym: "Waardenburg-Jonker corneal dystrophy" EXACT [DOID:0060455, Orphanet:98960] xref: DOID:0060455 {source="MONDO:equivalentTo"} xref: ICD9:371.52 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535942 {source="Orphanet:98960", source="DOID:0060455", source="MONDO:equivalentTo", source="Orphanet:98960/e"} xref: OMIM:602082 {source="Orphanet:98960", source="DOID:0060455", source="MONDO:equivalentTo", source="Orphanet:98960/e", source="GARD:0009275"} xref: Orphanet:98960 {source="DOID:0060455", source="MONDO:equivalentTo", source="OMIM:602082", source="GARD:0009275"} xref: SCTID:417065002 {source="DOID:0060455", source="MONDO:equivalentTo"} xref: UMLS:C1562894 {source="Orphanet:98960", source="DOID:0060455", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:98960/e", source="OMIM:602082", source="GARD:0009275"} is_a: MONDO:0000764 {source="DOID:0060455"} ! epithelial-stromal TGFBI dystrophy is_a: MONDO:0020212 {source="Orphanet:98960"} ! superficial corneal dystrophy property_value: exactMatch DOID:0060455 property_value: exactMatch http://identifiers.org/mesh/C535942 property_value: exactMatch http://identifiers.org/snomedct/417065002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1562894 property_value: exactMatch https://omim.org/entry/602082 property_value: exactMatch Orphanet:98960 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9275/corneal-dystrophy-thiel-behnke-type xsd:anyURI {source="GARD:0009275"} [Term] id: MONDO:0011190 name: nephronophthisis 2 def: "Any nephronophthisis in which the cause of the disease is a mutation in the INVS gene." [MONDO:patterns/disease_series_by_gene] synonym: "infantile nephronophthisis 2" EXACT [DOID:0111113] synonym: "INVS nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "nephronophthisis (disease) caused by mutation in INVS" EXACT [] synonym: "nephronophthisis 2" EXACT [MONDO:Lexical, OMIM:602088] synonym: "nephronophthisis 2, infantile" EXACT [OMIM:602088, OMIM:genemap2] synonym: "nephronophthisis type 2" EXACT [DOID:0111113, MONDORULE:1, OMIM:602088] synonym: "NPH2" EXACT ABBREVIATION [DOID:0111113] synonym: "Nph2" RELATED [OMIM:602088] synonym: "NPHP2" EXACT ABBREVIATION [DOID:0111113, MONDO:Lexical, OMIM:602088] xref: DOID:0111113 {source="MONDO:equivalentTo"} xref: MESH:C566582 {source="MONDO:equivalentTo"} xref: OMIM:602088 {source="MONDO:equivalentTo", source="DOID:0111113"} xref: Orphanet:93591 {source="MONDO:equivalentTo"} xref: UMLS:C1865872 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:602088"} is_a: MONDO:0019005 {source="DC-OMIM:602088", source="DOID:0111113", source="MONDO:Redundant", source="OMIM:602088"} ! nephronophthisis property_value: exactMatch DOID:0111113 property_value: exactMatch http://identifiers.org/mesh/C566582 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865872 property_value: exactMatch https://omim.org/entry/602088 property_value: exactMatch Orphanet:93591 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011191 name: capillary infantile hemangioma def: "Capillary hemangiomas are benign, highly proliferative lesions involving aberrant localized growth of capillary endothelium. They are the most common tumor of infancy, occurring in up to 10% of all births. Hemangiomas tend to appear shortly after birth and show rapid neonatal growth for up to 12 months characterized by endothelial hypercellularity and increased numbers of mast cells. This phase is followed by slow involution at a rate of about 10% per year and replacement by fibrofatty stroma. Hemangiomas are classified as distinct from vascular malformations, in that the latter are present from birth, tend to grow with the individual, do not regress, and show normal rates of endothelial cell turnover." [https://orcid.org/0000-0001-5208-3432, OMIM:602089] synonym: "HCI" EXACT ABBREVIATION [OMIM:602089] synonym: "hemangioma, capillary infantile" EXACT [OMIM:602089] synonym: "hemangioma, capillary infantile, somatic" EXACT [OMIM:602089, OMIM:genemap2] synonym: "hemangioma, hereditary capillary" EXACT [OMIM:602089] synonym: "hereditary capillary infantile hemangioma" EXACT [Orphanet:464293] xref: MESH:C535860 {source="MONDO:equivalentTo"} xref: OMIM:602089 {source="MONDO:equivalentTo"} xref: Orphanet:464293 {source="MONDO:equivalentObsolete"} xref: Orphanet:91415 {source="OMIM:602089", source="MONDO:equivalentObsolete", source="MONDO:Obsolete"} xref: UMLS:C1865871 {source="OMIM:602089", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0002407 {source="https://orcid.org/0000-0001-5208-3432"} ! capillary hemangioma is_a: MONDO:0016229 ! hereditary vascular anomaly property_value: exactMatch http://identifiers.org/mesh/C535860 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865871 property_value: exactMatch https://omim.org/entry/602089 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5166 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6302 xsd:anyURI [Term] id: MONDO:0011193 name: cone dystrophy 3 def: "Any cone dystrophy in which the cause of the disease is a mutation in the GUCA1A gene." [MONDO:patterns/disease_series_by_gene] synonym: "COD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602093] synonym: "cone dystrophy 3" EXACT [MONDO:Lexical, OMIM:602093] synonym: "cone dystrophy caused by mutation in GUCA1A" EXACT [MONDO:design_pattern] synonym: "cone dystrophy type 3" EXACT [MONDORULE:1, OMIM:602093] synonym: "cone dystrophy-3" EXACT [OMIM:602093, OMIM:genemap2] synonym: "cone-rod dystrophy 14" RELATED [OMIM:602093] synonym: "GUCA1A cone dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinal cone dystrophy" RELATED [OMIM:602093] xref: DOID:0080314 {source="MONDO:equivalentTo"} xref: OMIM:602093 {source="MONDO:equivalentTo", source="DOID:0080314"} xref: UMLS:C1865869 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:0080314", source="OMIM:602093"} is_a: MONDO:0000455 {source="DC-OMIM:602093", source="MONDO:Redundant"} ! cone dystrophy is_a: MONDO:0015993 {source="DOID:0080314"} ! cone-rod dystrophy property_value: exactMatch DOID:0080314 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865869 property_value: exactMatch https://omim.org/entry/602093 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011197 name: hereditary thermosensitive neuropathy def: "Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy." [Orphanet:84093] subset: ordo_disease {source="Orphanet:84093"} synonym: "neuropathy, hereditary thermosensitive" RELATED [OMIM:602107] xref: MESH:C566575 {source="MONDO:equivalentTo"} xref: OMIM:602107 {source="Orphanet:84093/e", source="MONDO:equivalentTo", source="Orphanet:84093"} xref: Orphanet:84093 {source="MONDO:equivalentTo", source="OMIM:602107"} xref: SCTID:715645004 {source="MONDO:equivalentTo"} xref: UMLS:C1865856 {source="MONDO:equivalentTo", source="OMIM:602107", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:84093"} is_a: MONDO:0015359 {source="Orphanet:84093"} ! autosomal dominant hereditary demyelinating motor and sensory neuropathy property_value: exactMatch http://identifiers.org/mesh/C566575 property_value: exactMatch http://identifiers.org/snomedct/715645004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865856 property_value: exactMatch https://omim.org/entry/602107 property_value: exactMatch Orphanet:84093 [Term] id: MONDO:0011198 name: spondyloepimetaphyseal dysplasia, Missouri type def: "A spondyloepimetaphyseal dysplasia characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood." [https://orcid.org/0000-0001-5208-3432, Orphanet:93356] subset: gard_rare {source="GARD:0010618"} subset: ordo_disease {source="Orphanet:93356"} synonym: "metaphyseal anadysplasia 1" RELATED [OMIM:602111] synonym: "Missouri type of spondyloepimetaphyseal dysplasia" RELATED [GARD:0010618] synonym: "SEMD Missouri type" RELATED [GARD:0010618] synonym: "SEMD type 2" EXACT [Orphanet:93356] synonym: "SEMD, Missouri type" EXACT [OMIM:602111, Orphanet:93356] synonym: "spondyloepimetaphyseal dysplasia Missouri type" RELATED [GARD:0010618] synonym: "spondyloepimetaphyseal dysplasia type 2" EXACT [Orphanet:93356] synonym: "spondyloepimetaphyseal dysplasia, Missouri type" EXACT [OMIM:602111] xref: DOID:0080030 {source="MONDO:equivalentTo"} xref: OMIM:602111 {source="DOID:0080030", source="MONDO:equivalentTo", source="Orphanet:93356", source="Orphanet:93356/e"} xref: Orphanet:93356 {source="OMIM:602111", source="MONDO:equivalentTo"} xref: SCTID:719171005 {source="MONDO:equivalentTo"} is_a: MONDO:0019693 {source="PMID:31633310"} ! multiple metaphyseal dysplasia is_a: MONDO:0100510 {source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia property_value: exactMatch DOID:0080030 property_value: exactMatch http://identifiers.org/snomedct/719171005 property_value: exactMatch https://omim.org/entry/602111 property_value: exactMatch Orphanet:93356 property_value: excluded_subClassOf MONDO:0016761 {source="DC-OMIM:602111", source="DOID:0080030", source="Orphanet:93356"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5280 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10618/spondyloepimetaphyseal-dysplasia-missouri-type xsd:anyURI {source="GARD:0010618"} [Term] id: MONDO:0011200 name: torsion dystonia 7 def: "A focal dystonia characterized by predomiantly cervical dystonia that has material basis in variation in the chromosome region 18p." [DOID:0090040] synonym: "cervical dystonia, primary" RELATED [OMIM:602124] synonym: "dystonia 7, torsion" RELATED [MONDO:Lexical, OMIM:602124] synonym: "dystonia-7, torsion" EXACT [OMIM:602124, OMIM:genemap2] synonym: "DYT7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602124] synonym: "torsion dystonia type 7" EXACT [DOID:0090040, MONDORULE:1] synonym: "torsion dystonia, focal adult-onset" RELATED [OMIM:602124] xref: DOID:0090040 {source="MONDO:equivalentTo"} xref: MESH:C566572 {source="MONDO:equivalentTo"} xref: OMIM:602124 {source="DOID:0090040", source="MONDO:equivalentTo"} xref: Orphanet:93963 {source="MONDO:equivalentObsolete"} is_a: MONDO:0000477 {source="DOID:0090040"} ! focal dystonia is_a: MONDO:0044807 {source="DOID:0090040/inferred", source="MONDO:Redundant", source="OMIM:602124"} ! inherited dystonia property_value: exactMatch DOID:0090040 property_value: exactMatch http://identifiers.org/mesh/C566572 property_value: exactMatch https://omim.org/entry/602124 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011202 name: RHYNS syndrome def: "RHYNS syndrome is characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia." [Orphanet:140976] subset: ordo_disease {source="Orphanet:140976"} synonym: "retinitis pigmentosa syndrome" RELATED [OMIM:602152] synonym: "retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia" RELATED [OMIM:602152] synonym: "retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome" EXACT [Orphanet:140976] synonym: "RHYNS syndrome" EXACT [OMIM:602152] xref: MESH:C537612 {source="Orphanet:140976/e", source="MONDO:equivalentTo", source="Orphanet:140976"} xref: OMIM:602152 {source="Orphanet:140976/e", source="MONDO:equivalentTo", source="Orphanet:140976"} xref: Orphanet:140976 {source="MONDO:equivalentTo", source="OMIM:602152"} xref: SCTID:723999009 {source="MONDO:equivalentTo"} xref: UMLS:C1865794 {source="Orphanet:140976/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:602152", source="Orphanet:140976"} is_a: MONDO:0015962 {source="Orphanet:140976"} ! inherited renal tubular disease is_a: MONDO:0020240 {source="Orphanet:140976"} ! syndromic retinitis pigmentosa property_value: exactMatch http://identifiers.org/mesh/C537612 property_value: exactMatch http://identifiers.org/snomedct/723999009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865794 property_value: exactMatch https://omim.org/entry/602152 property_value: exactMatch Orphanet:140976 [Term] id: MONDO:0011208 name: malignant atrophic papulosis def: "Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal." [Orphanet:679] subset: ordo_disease {source="Orphanet:679"} synonym: "atrophic papulosis, malignant" RELATED [GARD:0006249] synonym: "Degos disease" EXACT [OMIM:602248, Orphanet:679] synonym: "Degos syndrome" RELATED [GARD:0006249] synonym: "Degos's malignant atrophic papulosis" RELATED [GARD:0006249] synonym: "Kohlmeier-Degos disease" EXACT [GARD:0006249, Orphanet:679] synonym: "Kohlmeier-Degos-Delort-Tricort syndrome" EXACT [Orphanet:679] synonym: "Köhlmeier-Degos disease" EXACT [Orphanet:679] synonym: "Köhlmeier-Degos-Delort-Tricort syndrome" EXACT [Orphanet:679] synonym: "malignant atrophic papulosis" EXACT [OMIM:602248] synonym: "papulosis atrophican maligna" EXACT [Orphanet:679] synonym: "papulosis, malignant atrophic" RELATED [OMIM:602248] xref: ICD9:447.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10064281 {source="Orphanet:679", source="Orphanet:679/e"} xref: MESH:D054853 {source="Orphanet:679", source="MONDO:equivalentTo", source="Orphanet:679/e"} xref: NCIT:C84835 {source="MONDO:equivalentTo"} xref: OMIM:602248 {source="Orphanet:679", source="MONDO:equivalentTo", source="Orphanet:679/e"} xref: Orphanet:679 {source="OMIM:602248", source="MONDO:equivalentTo"} xref: SCTID:400171002 {source="MONDO:equivalentTo"} xref: UMLS:C0221011 {source="OMIM:602248", source="NCIT:C84835", source="Orphanet:679", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:679/e"} is_a: MONDO:0019293 {source="MESH:D054853", source="Orphanet:679"} ! skin vascular disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015948"} ! rare property_value: closeMatch http://identifiers.org/meddra/10064281 property_value: exactMatch http://identifiers.org/mesh/D054853 property_value: exactMatch http://identifiers.org/snomedct/400171002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221011 property_value: exactMatch https://omim.org/entry/602248 property_value: exactMatch NCIT:C84835 property_value: exactMatch Orphanet:679 [Term] id: MONDO:0011211 name: axial spondylometaphyseal dysplasia def: "Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion." [https://rarediseases.info.nih.gov/diseases/8720/axial-spondylometaphyseal-dysplasia] subset: gard_rare {source="GARD:0008720"} subset: ordo_disease {source="Orphanet:168549"} synonym: "axial SmD" RELATED [OMIM:602271] synonym: "SmD axial" RELATED [GARD:0008720] synonym: "SmD, axial" RELATED [OMIM:602271] synonym: "SMDAX" RELATED ABBREVIATION [OMIM:602271] synonym: "spondylometaphyseal dysplasia axial type" RELATED [GARD:0008720] synonym: "spondylometaphyseal dysplasia, axial" RELATED [OMIM:602271] xref: DOID:0112299 {source="MONDO:equivalentTo"} xref: MESH:C535795 {source="MONDO:equivalentTo", source="Orphanet:168549", source="Orphanet:168549/e"} xref: OMIM:602271 {source="MONDO:equivalentTo", source="Orphanet:168549", source="Orphanet:168549/e"} xref: Orphanet:168549 {source="MONDO:equivalentTo", source="OMIM:602271"} xref: UMLS:C1865695 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:168549", source="OMIM:602271", source="Orphanet:168549/e"} is_a: MONDO:0016763 {source="DC-OMIM:602271", source="Orphanet:168549"} ! spondylometaphyseal dysplasia is_a: MONDO:0019691 {source="PMID:31633310"} ! short rib dysplasia property_value: exactMatch DOID:0112299 property_value: exactMatch http://identifiers.org/mesh/C535795 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865695 property_value: exactMatch https://omim.org/entry/602271 property_value: exactMatch Orphanet:168549 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8720/axial-spondylometaphyseal-dysplasia xsd:anyURI {source="GARD:0008720"} [Term] id: MONDO:0011213 name: Pierpont syndrome def: "Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear." [Orphanet:487825] subset: ordo_malformation_syndrome synonym: "PIERPONT syndrome" RELATED [OMIM:602342] synonym: "Pierpont syndrome" EXACT [OMIM:602342] synonym: "plantar lipomatosis, unusual facies, and developmental delay" RELATED [OMIM:602342] synonym: "plantar lipomatosis-facial dysmorphism-developmental delay syndrome" EXACT [Orphanet:487825] synonym: "plantar lipomatosis-unusual facies-developmental delay syndrome" EXACT [Orphanet:487825] synonym: "PRPTS" RELATED ABBREVIATION [OMIM:602342] xref: DOID:0081362 {source="MONDO:equivalentTo"} xref: MESH:C566559 {source="MONDO:equivalentTo"} xref: OMIM:602342 {source="MONDO:equivalentTo", source="Orphanet:487825"} xref: Orphanet:487825 {source="MONDO:equivalentTo"} xref: UMLS:C1865644 {source="OMIM:602342", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:487825", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:487825"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0019296 {source="Orphanet:487825"} ! subcutaneous tissue disorder property_value: exactMatch DOID:0081362 property_value: exactMatch http://identifiers.org/mesh/C566559 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865644 property_value: exactMatch https://omim.org/entry/602342 property_value: exactMatch Orphanet:487825 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0011214 name: progressive familial intrahepatic cholestasis type 3 def: "Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood." [Orphanet:79305] subset: gard_rare {source="GARD:0001289"} subset: ordo_clinical_subtype {source="Orphanet:79305"} synonym: "ABCB4 progressive familial intrahepatic cholestasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "cholestasis, progressive familial intrahepatic 3" EXACT [OMIM:602347, OMIM:genemap2] synonym: "cholestasis, progressive familial intrahepatic, 3" RELATED [MONDO:Lexical, OMIM:602347] synonym: "cholestasis, progressive familial intrahepatic, type 3" EXACT [MONDORULE:1, OMIM:602347] synonym: "cholestasis, progressive familial intrahepatic, with elevated serum gamma-glutamyltransferase" RELATED [OMIM:602347] synonym: "Mdr3 deficiency" RELATED [OMIM:602347] synonym: "PFIC3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:602347, Orphanet:79305] synonym: "progressive familial intrahepatic cholestasis caused by mutation in ABCB4" EXACT [MONDO:design_pattern] synonym: "progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase" RELATED [GARD:0001289] xref: DOID:0070223 {source="MONDO:equivalentTo"} xref: MESH:C535935 {source="Orphanet:79305", source="MONDO:equivalentTo", source="Orphanet:79305/e"} xref: OMIM:602347 {source="Orphanet:79305", source="MONDO:equivalentTo", source="Orphanet:79305/e"} xref: Orphanet:79305 {source="OMIM:602347", source="MONDO:equivalentTo"} xref: UMLS:C1865643 {source="Orphanet:79305", source="OMIM:602347", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:79305/e"} is_a: MONDO:0015762 {source="MONDO:Redundant", source="OMIM:602347", source="Orphanet:79305"} ! progressive familial intrahepatic cholestasis property_value: exactMatch DOID:0070223 property_value: exactMatch http://identifiers.org/mesh/C535935 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865643 property_value: exactMatch https://omim.org/entry/602347 property_value: exactMatch Orphanet:79305 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1289/progressive-familial-intrahepatic-cholestasis-type-3 xsd:anyURI {source="GARD:0001289"} [Term] id: MONDO:0011215 name: osteocraniostenosis def: "Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization." [Orphanet:2763] subset: ordo_malformation_syndrome {source="Orphanet:2763"} synonym: "GCLEB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602361] synonym: "gracile bone dysplasia" EXACT [MONDO:Lexical, OMIM:602361, Orphanet:2763] synonym: "Habrodysplasia" RELATED [OMIM:602361] synonym: "Osteocraniosplenic syndrome" EXACT [OMIM:602361, Orphanet:2763] synonym: "osteocraniostenosis" EXACT [OMIM:602361] synonym: "skeletal dysplasia lethal with gracile bones" RELATED [GARD:0003396] synonym: "skeletal dysplasia, lethal, with gracile bones" RELATED [OMIM:602361] xref: ICD10CM:Q78.0 {source="Orphanet:2763/attributed", source="Orphanet:2763/ntbt", source="MONDO:relatedTo", source="Orphanet:2763"} xref: MESH:C537291 {source="MONDO:equivalentTo"} xref: OMIM:602361 {source="Orphanet:2763", source="MONDO:equivalentTo", source="Orphanet:2763/e"} xref: Orphanet:2763 {source="MONDO:equivalentTo", source="OMIM:602361"} xref: SCTID:722109008 {source="MONDO:equivalentTo"} xref: UMLS:C1865639 {source="Orphanet:2763", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2763/e", source="OMIM:602361"} is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder property_value: exactMatch http://identifiers.org/mesh/C537291 property_value: exactMatch http://identifiers.org/snomedct/722109008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865639 property_value: exactMatch https://omim.org/entry/602361 property_value: exactMatch Orphanet:2763 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0011216 name: hemochromatosis type 2A def: "Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HJV gene." [MONDO:patterns/disease_series_by_gene] synonym: "hemochromatosis type 2 caused by mutation in HJV" EXACT [MONDO:design_pattern] synonym: "hemochromatosis type 2A" EXACT [] synonym: "hemochromatosis, juvenile" RELATED [OMIM:602390] synonym: "hemochromatosis, type 2" RELATED [OMIM:602390] synonym: "hemochromatosis, type 2A" RELATED [MONDO:Lexical, OMIM:602390] synonym: "HFE2A" EXACT ABBREVIATION [DOID:0111027, MONDO:Lexical, OMIM:602390] synonym: "HJV hemochromatosis type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111027 {source="MONDO:equivalentTo"} xref: OMIM:602390 {source="MONDO:equivalentTo", source="DOID:0111027"} is_a: MONDO:0019257 {source="DOID:0111027", source="MONDO:Redundant"} ! hemochromatosis type 2 property_value: exactMatch DOID:0111027 property_value: exactMatch https://omim.org/entry/602390 [Term] id: MONDO:0011217 name: desmosterolosis def: "Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol." [Orphanet:35107] subset: gard_rare {source="GARD:0010283"} subset: ordo_disease {source="Orphanet:35107"} synonym: "desmosterolosis" EXACT [OMIM:602398] xref: ICD9:272.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C566555 {source="MONDO:equivalentTo"} xref: OMIM:602398 {source="Orphanet:35107", source="MONDO:equivalentTo", source="Orphanet:35107/e"} xref: Orphanet:35107 {source="OMIM:602398", source="MONDO:equivalentTo"} xref: SCTID:709490002 {source="MONDO:equivalentTo"} xref: UMLS:C1865596 {source="OMIM:602398", source="Orphanet:35107", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019702 {source="Orphanet:35107", source="PMID:31633310"} ! neonatal osteosclerotic dysplasia is_a: MONDO:0045017 ! cholesterol biosynthetic process disease property_value: exactMatch http://identifiers.org/mesh/C566555 property_value: exactMatch http://identifiers.org/snomedct/709490002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865596 property_value: exactMatch https://omim.org/entry/602398 property_value: exactMatch Orphanet:35107 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10283/desmosterolosis xsd:anyURI {source="GARD:0010283"} [Term] id: MONDO:0011218 name: autosomal recessive congenital ichthyosis 11 subset: ordo_disease {source="Orphanet:91132"} synonym: "ARCI11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602400] synonym: "ARIH" RELATED ABBREVIATION [GARD:0010116] synonym: "autosomal recessive congenital ichthyosis 11" EXACT [] synonym: "autosomal recessive congenital ichthyosis type 11" EXACT [DOID:0060720, MONDORULE:2] synonym: "autosomal recessive ichthyosis with hypotrichosis" EXACT [DOID:0060720] synonym: "hypotrichosis-congenital ichthyosis syndrome" EXACT [DOID:0060720, Orphanet:91132] synonym: "ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis" EXACT [DOID:0060720, OMIM:602400] synonym: "ichthyosis with hypotrichosis, autosomal recessive" RELATED [OMIM:602400] synonym: "ichthyosis, congenital, autosomal recessive 11" RELATED [MONDO:Lexical, OMIM:602400] synonym: "ichthyosis, congenital, autosomal recessive type 11" EXACT [MONDORULE:2, OMIM:602400] synonym: "ichthyosis-follicular atrophoderma-hypotrichosis syndrome" EXACT [DOID:0060720, Orphanet:91132] synonym: "ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome" EXACT [DOID:0060720, Orphanet:91132] synonym: "ichthyosis-hypotrichosis syndrome" EXACT [DOID:0060720] synonym: "IFAH syndrome" EXACT [DOID:0060720, Orphanet:91132] synonym: "IHS" EXACT ABBREVIATION [DOID:0060720, Orphanet:91132] xref: DOID:0060720 {source="MONDO:equivalentTo"} xref: MESH:C536273 {source="MONDO:equivalentTo"} xref: OMIM:602400 {source="Orphanet:91132", source="MONDO:equivalentTo", source="DOID:0060720", source="Orphanet:91132/e"} xref: Orphanet:91132 {source="OMIM:602400", source="MONDO:equivalentTo"} xref: UMLS:C1835851 {source="OMIM:602400", source="Orphanet:91132", source="MONDO:equivalentTo"} is_a: MONDO:0017265 {source="DC-OMIM:602400", source="DOID:0060720", source="OMIM:602400"} ! autosomal recessive congenital ichthyosis is_a: MONDO:0021034 {source="Orphanet:91132"} ! hereditary alopecia property_value: exactMatch DOID:0060720 property_value: exactMatch http://identifiers.org/mesh/C536273 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835851 property_value: exactMatch https://omim.org/entry/602400 property_value: exactMatch Orphanet:91132 property_value: excluded_subClassOf MONDO:0017271 {source="Orphanet:91132"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0011219 name: Fried's tooth and nail syndrome subset: ordo_malformation_syndrome {source="Orphanet:99672"} synonym: "ECTD8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602401] synonym: "ectodermal dysplasia 8, hair/tooth/nail type" RELATED [MONDO:Lexical, OMIM:602401] xref: DOID:0111661 {source="MONDO:equivalentTo"} xref: OMIM:602401 {source="Orphanet:99672/e", source="MONDO:equivalentTo", source="Orphanet:99672"} xref: Orphanet:99672 {source="OMIM:602401", source="MONDO:equivalentTo"} xref: SCTID:239020008 {source="MONDO:equivalentTo"} xref: UMLS:C0406715 {source="Orphanet:99672/e", source="MONDO:equivalentTo", source="Orphanet:99672"} is_a: MONDO:0019287 {source="OMIM:602401", source="Orphanet:99672"} ! ectodermal dysplasia syndrome property_value: exactMatch DOID:0111661 property_value: exactMatch http://identifiers.org/snomedct/239020008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406715 property_value: exactMatch https://omim.org/entry/602401 property_value: exactMatch Orphanet:99672 [Term] id: MONDO:0011223 name: amyotrophic lateral sclerosis type 4 def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SETX gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0010502"} subset: ordo_disease {source="Orphanet:357043"} synonym: "ALS 4" EXACT [DOID:0060196, OMIM:602433] synonym: "ALS4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:602433, Orphanet:357043] synonym: "amyotrophic lateral sclerosis 4" EXACT [DOID:0060196, OMIM:602433] synonym: "amyotrophic lateral sclerosis 4, juvenile" EXACT [DOID:0060196, MONDO:Lexical, OMIM:602433] synonym: "amyotrophic lateral sclerosis caused by mutation in SETX" EXACT [MONDO:design_pattern] synonym: "dHMN with upper motor neuron signs" EXACT [DOID:0060196, Orphanet:357043] synonym: "distal hereditary motor neuropathy with pyramidal features" EXACT [DOID:0060196, OMIM:602433] synonym: "distal hereditary motor neuropathy with upper motor neuron signs" EXACT [DOID:0060196, Orphanet:357043] synonym: "neuronopathy, distal hereditary motor, with pyramidal features" RELATED [OMIM:602433] synonym: "SETX amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060196 {source="MONDO:equivalentTo"} xref: MESH:C566550 {source="MONDO:equivalentTo"} xref: OMIM:602433 {source="Orphanet:357043/e", source="MONDO:equivalentTo", source="Orphanet:357043", source="DOID:0060196"} xref: Orphanet:357043 {source="OMIM:602433", source="MONDO:equivalentTo", source="DOID:0060196"} xref: UMLS:C1865409 {source="OMIM:602433", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:357043"} is_a: EFO:0001356 {source="DC-OMIM:602433", source="DOID:0060196", source="MESH:C566550", source="MONDO:Redundant", source="OMIM:602433", source="Orphanet:357043"} ! familial amyotrophic lateral sclerosis property_value: exactMatch DOID:0060196 property_value: exactMatch http://identifiers.org/mesh/C566550 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865409 property_value: exactMatch https://omim.org/entry/602433 property_value: exactMatch Orphanet:357043 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10502/amyotrophic-lateral-sclerosis-type-4 xsd:anyURI {source="GARD:0010502"} [Term] id: MONDO:0011225 name: severe combined immunodeficiency due to DCLRE1C deficiency def: "Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation." [Orphanet:275] subset: gard_rare {source="GARD:0009987"} subset: ordo_disease {source="Orphanet:275"} synonym: "artemis deficiency" RELATED [DOID:0060006] synonym: "Athabaskan Severe combined immunodeficiency" RELATED [OMIM:602450] synonym: "DCLRE1C severe combined immunodeficiency (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "RS-SCID" RELATED [OMIM:602450] synonym: "SCID due to ARTEMIS deficiency" EXACT [Orphanet:275] synonym: "SCID due to artemis deficiency" EXACT [DOID:0090012] synonym: "SCID due to DCLRE1C deficiency" EXACT [DOID:0090012, Orphanet:275] synonym: "SCID, Athabascan type" EXACT [DOID:0090012, Orphanet:275] synonym: "SCID, Athabaskan type" EXACT [DOID:0090012, Orphanet:275] synonym: "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionising radiation" RELATED OMO:0003005 [] synonym: "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation" RELATED [OMIM:602450] synonym: "severe combined immunodeficiency (disease) caused by mutation in DCLRE1C" EXACT [] synonym: "severe combined immunodeficiency due to ARTEMIS deficiency" EXACT [Orphanet:275] synonym: "severe combined immunodeficiency due to artemis deficiency" EXACT [DOID:0090012, MONDO:0000570] synonym: "severe combined immunodeficiency due to DCLRE1C deficiency" EXACT [DOID:0090012] synonym: "severe combined immunodeficiency with sensitivity to ionising radiation" RELATED OMO:0003005 [] synonym: "severe combined immunodeficiency with sensitivity to ionizing radiation" RELATED [OMIM:602450] synonym: "severe combined immunodeficiency, Athabascan type" RELATED [DOID:0090012, Orphanet:275] synonym: "severe combined immunodeficiency, Athabaskan type" RELATED [DOID:0090012, Orphanet:275] synonym: "severe combined immunodeficiency, Athabaskan-type" RELATED [OMIM:602450] synonym: "severe combined immunodeficiency, partial" RELATED [OMIM:602450] xref: DOID:0060006 {source="MONDO:equivalentObsolete"} xref: DOID:0090012 {source="MONDO:equivalentTo"} xref: OMIM:602450 {source="DOID:0090012", source="MONDO:equivalentTo", source="Orphanet:275/ntbt", source="Orphanet:275", source="https://orcid.org/0000-0002-6601-2165"} xref: Orphanet:275 {source="DOID:0090012", source="MONDO:equivalentTo", source="OMIM:602450"} xref: SCTID:715982006 {source="MONDO:equivalentTo"} is_a: EFO:0008499 ! DNA repair deficiency is_a: MONDO:0017855 {source="Orphanet:275", source="PMID:31953710"} ! T-B- severe combined immunodeficiency is_a: MONDO:0031520 {source="DOID:0060006", source="DOID:0090012", source="MONDO:Redundant", source="OMIM:602450", source="Orphanet:275/inferred"} ! familial severe combined immunodeficiency property_value: exactMatch DOID:0090012 property_value: exactMatch http://identifiers.org/snomedct/715982006 property_value: exactMatch https://omim.org/entry/602450 property_value: exactMatch Orphanet:275 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9987/severe-combined-immunodeficiency-with-sensitivity-to-ionizing-radiation xsd:anyURI {source="GARD:0009987"} [Term] id: MONDO:0011227 name: short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome subset: ordo_malformation_syndrome {source="Orphanet:397623"} synonym: "SAMS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602471] synonym: "SAMS syndrome" EXACT [Orphanet:397623] synonym: "short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities" RELATED [MONDO:Lexical, OMIM:602471] synonym: "short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities" EXACT [OMIM:602471, OMIM:genemap2] xref: MESH:C566544 {source="MONDO:equivalentTo"} xref: OMIM:602471 {source="MONDO:equivalentTo", source="Orphanet:397623", source="Orphanet:397623/e"} xref: Orphanet:397623 {source="MONDO:equivalentTo", source="OMIM:602471"} xref: SCTID:417081007 {source="MONDO:equivalentTo"} xref: UMLS:C1865361 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:397623", source="OMIM:602471"} is_a: MONDO:0015161 {source="Orphanet:397623"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0018562 {source="MONDO:0015502-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! hereditary otorhinolaryngological malformation is_a: MONDO:0019697 {source="Orphanet:397623"} ! mesomelic and rhizo-mesomelic dysplasia is_a: MONDO:0800095 {source="PMID:31633310"} ! syndrome with synostosis or other joint formation defect property_value: exactMatch http://identifiers.org/mesh/C566544 property_value: exactMatch http://identifiers.org/snomedct/417081007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865361 property_value: exactMatch https://omim.org/entry/602471 property_value: exactMatch Orphanet:397623 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0011229 name: ethylmalonic encephalopathy def: "Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities." [Orphanet:51188] subset: gard_rare {source="GARD:0002198"} subset: ordo_disease {source="Orphanet:51188"} synonym: "EE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602473] synonym: "eme" RELATED [GARD:0002198] synonym: "encephalopathy, ethylmalonic" RELATED [GARD:0002198, MONDO:Lexical, OMIM:602473] synonym: "encephalopathy, petechiae, and ethylmalonic aciduria" RELATED [GARD:0002198] synonym: "EPEMA syndrome" RELATED [GARD:0002198] synonym: "syndrome of encephalopathy, petechiae, and ethylmalonic aciduria" RELATED [GARD:0002198] xref: DOID:0060640 {source="MONDO:equivalentTo"} xref: MESH:C535737 {source="Orphanet:51188", source="DOID:0060640", source="MONDO:equivalentTo", source="Orphanet:51188/e"} xref: OMIM:602473 {source="Orphanet:51188", source="DOID:0060640", source="MONDO:equivalentTo", source="Orphanet:51188/e"} xref: Orphanet:51188 {source="DOID:0060640", source="MONDO:equivalentTo", source="OMIM:602473"} xref: SCTID:723307008 {source="MONDO:equivalentTo"} xref: UMLS:C1865349 {source="Orphanet:51188", source="DOID:0060640", source="MONDO:equivalentTo", source="Orphanet:51188/e", source="MONDO:ncbi_mim2gene_medline", source="OMIM:602473"} is_a: MONDO:0016803 {source="Orphanet:51188"} ! unspecified inborn mitochondrial disorder is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy property_value: exactMatch DOID:0060640 property_value: exactMatch http://identifiers.org/mesh/C535737 property_value: exactMatch http://identifiers.org/snomedct/723307008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865349 property_value: exactMatch https://omim.org/entry/602473 property_value: exactMatch Orphanet:51188 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5671 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2198/ethylmalonic-encephalopathy xsd:anyURI {source="GARD:0002198"} [Term] id: MONDO:0011231 name: febrile seizures, familial, 2 synonym: "convulsions, familial febrile, 2" RELATED [OMIM:602477] synonym: "FEB2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:602477] synonym: "febrile seizures, familial, 2" EXACT [MONDO:Lexical, OMIM:602477] synonym: "generalised epilepsy with febrile seizures plus, type 11" EXACT OMO:0003005 [] synonym: "generalized epilepsy with febrile seizures plus, type 11" EXACT [OMIM:602477, OMIM:genemap2] xref: DOID:0111310 {source="MONDO:equivalentTo"} xref: MESH:C566541 {source="MONDO:equivalentTo"} xref: UMLS:C1865342 {source="OMIM:602477", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000032 {source="DC-OMIM:602477", source="OMIM:602477"} ! febrile seizures, familial property_value: exactMatch DOID:0111310 property_value: exactMatch http://identifiers.org/mesh/C566541 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865342 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4882 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6280 xsd:anyURI [Term] id: MONDO:0011235 name: pelvic dysplasia-arthrogryposis of lower limbs syndrome subset: ordo_malformation_syndrome {source="Orphanet:2840"} synonym: "pelvic dysplasia arthrogryposis of lower limbs" RELATED [GARD:0004269] synonym: "pelvic hypoplasia with arthrogryposis of lower limbs" RELATED [GARD:0004269] synonym: "pelvic hypoplasia with lower limb arthrogryposis" RELATED [GARD:0004269] synonym: "pelvic hypoplasia with LOWER-limb arthrogryposis" RELATED [OMIM:602484] synonym: "Ray-Peterson-Scott syndrome" EXACT [Orphanet:2840] xref: OMIM:602484 {source="Orphanet:2840", source="MONDO:equivalentTo", source="Orphanet:2840/e"} xref: Orphanet:2840 {source="MONDO:equivalentTo", source="OMIM:602484"} xref: UMLS:C1865294 {source="Orphanet:2840", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2840/e", source="OMIM:602484"} is_a: MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865294 property_value: exactMatch https://omim.org/entry/602484 property_value: exactMatch Orphanet:2840 [Term] id: MONDO:0011236 name: hyperinsulinism due to glucokinase deficiency def: "Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism, caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." [Orphanet:79299] subset: gard_rare subset: ordo_disease {source="Orphanet:79299"} synonym: "HHF3" RELATED ABBREVIATION [GARD:0009930, MONDO:Lexical, OMIM:602485] synonym: "hyperinsulinemic hypoglycemia due to glucokinase deficiency" EXACT [Orphanet:79299] synonym: "hyperinsulinemic hypoglycemia familial 3" RELATED [GARD:0009930] synonym: "hyperinsulinemic hypoglycemia, familial, 3" RELATED [MONDO:Lexical, OMIM:602485] synonym: "hyperinsulinemic hypoglycemia, familial, type 3" EXACT [MONDORULE:1, OMIM:602485] xref: DOID:0070216 {source="MONDO:equivalentTo"} xref: MESH:C538374 {source="MONDO:equivalentTo"} xref: OMIM:602485 {source="Orphanet:79299/e", source="MONDO:equivalentTo", source="Orphanet:79299", source="GARD:0009930"} xref: Orphanet:79299 {source="OMIM:602485", source="MONDO:equivalentTo"} xref: SCTID:717182006 {source="MONDO:equivalentTo"} is_a: MONDO:0015624 {source="Orphanet:79299"} ! diazoxide-sensitive diffuse hyperinsulinism is_a: MONDO:0017688 {source="Orphanet:79299", source="PMID:33340416"} ! disorder of glycolysis property_value: exactMatch DOID:0070216 property_value: exactMatch http://identifiers.org/mesh/C538374 property_value: exactMatch http://identifiers.org/snomedct/717182006 property_value: exactMatch https://omim.org/entry/602485 property_value: exactMatch Orphanet:79299 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9930/hyperinsulinemic-hypoglycemia-familial-3 xsd:anyURI {source="GARD:0009930"} [Term] id: MONDO:0011238 name: chondrodysplasia punctata, brachytelephalangic, autosomal synonym: "brachytelephalangic chondrodysplasia punctata" RELATED [OMIM:602497] synonym: "chondrodysplasia punctata, brachytelephalangic, autosomal" EXACT [OMIM:602497] xref: OMIM:602497 {source="MONDO:equivalentTo"} xref: UMLS:C1844853 {source="OMIM:602497", source="MONDO:relatedTo"} is_a: MONDO:0007321 {source="MONDO:cjm"} ! autosomal dominant chondrodysplasia punctata property_value: exactMatch https://omim.org/entry/602497 [Term] id: MONDO:0011240 name: megalencephaly-capillary malformation-polymicrogyria syndrome def: "A polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism." [https://orcid.org/0000-0001-5208-3432, Orphanet:60040] subset: ordo_malformation_syndrome {source="Orphanet:60040"} synonym: "M-CM" RELATED [GARD:0006950] synonym: "M-CMTC" RELATED [GARD:0006950] synonym: "macrocephaly cutis marmorata telangiectatica congenita" RELATED [GARD:0006950] synonym: "macrocephaly-capillary malformation" RELATED [OMIM:602501] synonym: "macrocephaly-capillary malformation syndrome" EXACT [Orphanet:60040] synonym: "macrocephaly-cutis marmorata telangiectatica congenita" RELATED [OMIM:602501] synonym: "macrocephaly-cutis marmorata telangiectatica congenita syndrome" EXACT [Orphanet:60040] synonym: "MCAP" EXACT ABBREVIATION [MONDO:Lexical, OMIM:602501, Orphanet:60040] synonym: "MCM" EXACT ABBREVIATION [Orphanet:60040] synonym: "MCMTC" EXACT ABBREVIATION [Orphanet:60040] synonym: "megalencephaly cutis marmorata telangiectatica congenita" RELATED [GARD:0006950] synonym: "megalencephaly-capillary malformation syndrome" EXACT [OMIM:602501, Orphanet:60040] synonym: "megalencephaly-capillary malformation-polymicrogyria syndrome" EXACT [MONDO:Lexical, OMIM:602501] synonym: "megalencephaly-capillary malformation-polymicrogyria syndrome, somatic" EXACT [OMIM:602501, OMIM:genemap2] synonym: "megalencephaly-cutis marmorata telangiectatica congenita" RELATED [OMIM:602501] synonym: "megalencephaly-cutis marmorata telangiectatica congenita syndrome" EXACT [Orphanet:60040] synonym: "megalocephaly cutis marmorata telangiectatica congenita" RELATED [GARD:0006950] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536142 {source="MONDO:equivalentTo"} xref: OMIM:602501 {source="Orphanet:60040/e", source="MONDO:equivalentTo", source="Orphanet:60040"} xref: Orphanet:60040 {source="OMIM:602501", source="MONDO:equivalentTo"} xref: SCTID:703370002 {source="MONDO:equivalentTo"} xref: UMLS:C1865285 {source="OMIM:602501", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:60040"} is_a: MONDO:0035162 {source="https://orcid.org/0000-0003-1493-865X"} ! PIK3CA-related overgrowth syndrome is_a: MONDO:0100283 {source="https://clinicalgenome.org/affiliation/40020/", source="https://github.com/monarch-initiative/mondo/issues/2547"} ! overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes relationship: disease_has_feature MONDO:0016231 ! capillary malformation property_value: exactMatch http://identifiers.org/mesh/C536142 property_value: exactMatch http://identifiers.org/snomedct/703370002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865285 property_value: exactMatch https://omim.org/entry/602501 property_value: exactMatch Orphanet:60040 property_value: excluded_subClassOf MONDO:0018719 {source="Orphanet:60040"} property_value: excluded_subClassOf MONDO:0019293 {source="MESH:C536142", source="Orphanet:60040"} property_value: excluded_subClassOf MONDO:0019716 {source="Orphanet:60040"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5210 xsd:anyURI [Term] id: MONDO:0011242 name: Bartter disease type 4A def: "Any Bartter syndrome in which the cause of the disease is a mutation in the BSND gene." [MONDO:patterns/disease_series_by_gene] synonym: "BARTS4A" EXACT ABBREVIATION [DOID:0110145] synonym: "Bartter disease type 4a" EXACT [] synonym: "Bartter syndrome caused by mutation in BSND" EXACT [MONDO:design_pattern] synonym: "Bartter syndrome type 4a" EXACT [DOID:0110145] synonym: "Bartter syndrome, infantile, with sensorineural deafness" RELATED [OMIM:602522] synonym: "Bartter syndrome, neonatal, with sensorineural deafness" RELATED [OMIM:602522] synonym: "Bartter syndrome, type 4A" RELATED [OMIM:602522] synonym: "Bartter syndrome, type 4A, neonatal, with sensorineural deafness" RELATED [OMIM:602522] synonym: "BSND" EXACT ABBREVIATION [DOID:0110145] synonym: "BSND Bartter syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "neonatal Bartter syndrome with sensorineural deafness" EXACT [DOID:0110145] synonym: "sensorineural deafness with mild renal dysfunction" RELATED [OMIM:602522] xref: DOID:0110145 {source="MONDO:equivalentTo"} xref: OMIM:602522 {source="MONDO:equivalentTo", source="DOID:0110145"} xref: SCTID:717791000 {source="MONDO:equivalentTo"} xref: UMLS:C1865270 {source="OMIM:602522", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019524 {source="Orphanet:89938", source="https://orcid.org/0000-0001-5208-3432"} ! Bartter syndrome type 4 property_value: exactMatch DOID:0110145 property_value: exactMatch http://identifiers.org/snomedct/717791000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865270 property_value: exactMatch https://omim.org/entry/602522 [Term] id: MONDO:0011243 name: grange syndrome def: "Grange syndrome is characterized by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases." [Orphanet:79094] subset: ordo_malformation_syndrome {source="Orphanet:79094"} synonym: "arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly" RELATED [OMIM:602531] synonym: "grange occlusive arterial syndrome" EXACT [OMIM:602531, Orphanet:79094] synonym: "grange syndrome" EXACT [OMIM:602531] synonym: "GRNG" RELATED ABBREVIATION [OMIM:602531] synonym: "progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome" EXACT [Orphanet:79094] xref: MESH:C566529 {source="MONDO:equivalentTo"} xref: OMIM:602531 {source="Orphanet:79094", source="MONDO:equivalentTo", source="Orphanet:79094/e"} xref: Orphanet:79094 {source="OMIM:602531", source="MONDO:equivalentTo"} xref: SCTID:717824007 {source="MONDO:equivalentTo"} xref: UMLS:C1865267 {source="OMIM:602531", source="Orphanet:79094", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015161 {source="Orphanet:79094"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability property_value: exactMatch http://identifiers.org/mesh/C566529 property_value: exactMatch http://identifiers.org/snomedct/717824007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865267 property_value: exactMatch https://omim.org/entry/602531 property_value: exactMatch Orphanet:79094 [Term] id: MONDO:0011244 name: Marshall-Smith syndrome def: "Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth." [Orphanet:561] subset: gard_rare {source="GARD:0006985"} subset: ordo_malformation_syndrome {source="Orphanet:561"} synonym: "accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome" EXACT [Orphanet:561] synonym: "Marshall-SMITH syndrome" RELATED [OMIM:602535] synonym: "Marshall-Smith syndrome" EXACT [MONDO:Lexical, OMIM:602535] synonym: "MRSHSS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602535] xref: DOID:0050858 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536026 {source="Orphanet:561/e", source="MONDO:equivalentTo", source="Orphanet:561"} xref: OMIM:602535 {source="Orphanet:561/e", source="MONDO:equivalentTo", source="DOID:0050858", source="Orphanet:561"} xref: Orphanet:561 {source="MONDO:equivalentTo", source="OMIM:602535", source="DOID:0050858"} xref: SCTID:73284007 {source="MONDO:equivalentTo"} xref: UMLS:C0265211 {source="Orphanet:561/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:602535", source="Orphanet:561"} is_a: MONDO:0002254 {source="DOID:0050858", source="MONDO:indirect"} ! syndromic disease is_a: MONDO:0015160 {source="Orphanet:561"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0019716 {source="Orphanet:561"} ! overgrowth syndrome is_a: MONDO:0800091 {source="PMID:31633310"} ! overgrowth or tall stature syndrome with skeletal involvement property_value: exactMatch DOID:0050858 property_value: exactMatch http://identifiers.org/mesh/C536026 property_value: exactMatch http://identifiers.org/snomedct/73284007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265211 property_value: exactMatch https://omim.org/entry/602535 property_value: exactMatch Orphanet:561 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6985/marshall-smith-syndrome xsd:anyURI {source="GARD:0006985"} [Term] id: MONDO:0011246 name: megaconial type congenital muscular dystrophy subset: gard_rare {source="GARD:0010317"} subset: ordo_disease {source="Orphanet:280671"} synonym: "congenital megaconial myopathy" EXACT [DOID:0110632, Orphanet:280671] synonym: "congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect" EXACT [DOID:0110632] synonym: "congenital muscular dystrophy with mitochondrial structural abnormalities" EXACT [DOID:0110632, Orphanet:280671] synonym: "MDCMC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602541] synonym: "megaconial congenital muscular dystrophy" EXACT [DOID:0110632, Orphanet:280671] synonym: "megaconial congénital muscular dystrophy" RELATED [GARD:0010317] synonym: "megaconial type congenital muscular dystrophy" EXACT [] synonym: "muscular dystrophy, congenital, megaconial type" RELATED [MONDO:Lexical, OMIM:602541] synonym: "muscular dystrophy, congenital, with mitochondrial structural abnormalities" RELATED [OMIM:602541] xref: DOID:0110632 {source="MONDO:equivalentTo"} xref: MESH:C566527 {source="MONDO:equivalentTo"} xref: OMIM:602541 {source="DOID:0110632", source="MONDO:equivalentTo", source="Orphanet:280671", source="Orphanet:280671/e"} xref: Orphanet:280671 {source="OMIM:602541", source="DOID:0110632", source="MONDO:equivalentTo"} xref: UMLS:C1865233 {source="OMIM:602541", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:280671"} is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis is_a: MONDO:0019950 {source="DOID:0110632", source="Orphanet:280671"} ! congenital muscular dystrophy property_value: exactMatch DOID:0110632 property_value: exactMatch http://identifiers.org/mesh/C566527 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865233 property_value: exactMatch https://omim.org/entry/602541 property_value: exactMatch Orphanet:280671 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10317/muscular-dystrophy-congenital-megaconial-type xsd:anyURI {source="GARD:0010317"} [Term] id: MONDO:0011248 name: distal monosomy 13q def: "Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported." [Orphanet:1590] subset: ordo_malformation_syndrome {source="Orphanet:1590"} synonym: "13q32 deletion" EXACT [Orphanet:1590] synonym: "anal atresia, hypospadias, and penoscrotal inversion" RELATED [OMIM:602553] synonym: "deletion 13q32" EXACT [Orphanet:1590] synonym: "distal 13q deletion" EXACT [Orphanet:1590] synonym: "distal monosomy type 13q" EXACT [MONDORULE:4, Orphanet:1590] synonym: "monosomy 13q32" EXACT [Orphanet:1590] synonym: "telomeric deletion13q" EXACT [Orphanet:1590] xref: MESH:C566526 {source="MONDO:equivalentTo"} xref: OMIM:602553 {source="Orphanet:1590/e", source="MONDO:equivalentTo", source="Orphanet:1590"} xref: Orphanet:1590 {source="OMIM:602553", source="MONDO:equivalentTo"} xref: SCTID:763527007 {source="MONDO:equivalentTo"} xref: UMLS:C1865208 {source="OMIM:602553", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1590"} is_a: MONDO:0015246 {source="Orphanet:1590"} ! syndromic anorectal malformation is_a: MONDO:0016911 {source="Orphanet:1590"} ! partial deletion of the long arm of chromosome 13 property_value: exactMatch http://identifiers.org/mesh/C566526 property_value: exactMatch http://identifiers.org/snomedct/763527007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865208 property_value: exactMatch https://omim.org/entry/602553 property_value: exactMatch Orphanet:1590 property_value: excluded_subClassOf MONDO:0020226 {source="Orphanet:1590"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0011252 name: spondyloepimetaphyseal dysplasia, Shohat type def: "A spondyloepimetaphyseal dysplasia characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly." [https://orcid.org/0000-0001-5208-3432, Orphanet:93352] subset: gard_rare {source="GARD:0004980"} subset: ordo_disease {source="Orphanet:93352"} synonym: "SEMD Shohat type" RELATED [GARD:0004980] synonym: "SEMD, Shohat type" EXACT [OMIM:602557, Orphanet:93352] synonym: "SEMDSH" RELATED ABBREVIATION [OMIM:602557] synonym: "spondyloepimetaphyseal dysplasia Shohat type" RELATED [GARD:0004980] synonym: "spondyloepimetaphyseal dysplasia, Shohat type" EXACT [OMIM:602557] xref: MESH:C566523 {source="MONDO:equivalentTo"} xref: OMIM:602557 {source="Orphanet:93352", source="MONDO:equivalentTo", source="Orphanet:93352/e"} xref: Orphanet:93352 {source="MONDO:equivalentTo", source="OMIM:602557"} xref: SCTID:719201004 {source="MONDO:equivalentTo"} xref: UMLS:C1865185 {source="Orphanet:93352", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:602557"} is_a: MONDO:0100510 {source="PMID:31633310", source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia property_value: exactMatch http://identifiers.org/mesh/C566523 property_value: exactMatch http://identifiers.org/snomedct/719201004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865185 property_value: exactMatch https://omim.org/entry/602557 property_value: exactMatch Orphanet:93352 property_value: excluded_subClassOf MONDO:0016761 {source="DC-OMIM:602557", source="Orphanet:93352"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5280 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4980/spondyloepimetaphyseal-dysplasia-shohat-type xsd:anyURI {source="GARD:0004980"} [Term] id: MONDO:0011253 name: craniomicromelic syndrome def: "Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly." [Orphanet:1524] subset: gard_rare {source="GARD:0001583"} subset: ordo_malformation_syndrome {source="Orphanet:1524"} synonym: "craniomicromelic syndrome" EXACT [OMIM:602558] xref: MESH:C566522 {source="MONDO:equivalentTo"} xref: OMIM:602558 {source="MONDO:equivalentTo", source="Orphanet:1524", source="Orphanet:1524/e"} xref: Orphanet:1524 {source="MONDO:equivalentTo", source="OMIM:602558"} xref: SCTID:725098001 {source="MONDO:equivalentTo"} xref: UMLS:C1865184 {source="MONDO:equivalentTo", source="OMIM:602558", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1524"} is_a: MONDO:0015338 {source="Orphanet:1524"} ! syndromic craniosynostosis property_value: exactMatch http://identifiers.org/mesh/C566522 property_value: exactMatch http://identifiers.org/snomedct/725098001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865184 property_value: exactMatch https://omim.org/entry/602558 property_value: exactMatch Orphanet:1524 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1583/craniomicromelic-syndrome xsd:anyURI {source="GARD:0001583"} [Term] id: MONDO:0011255 name: mandibulofacial dysostosis-macroblepharon-macrostomia syndrome subset: ordo_disease {source="Orphanet:357158"} synonym: "macroblepharon, ectropion, hypertelorism, and macrostomia" RELATED [OMIM:602562] synonym: "macroblepharon-ectropion-hypertelorism-macrostomia syndrome" EXACT [Orphanet:357158] synonym: "mandibulofacial dysostosis with macroblepharon and macrostomia" RELATED [OMIM:602562] synonym: "Verloes-Lesenfants syndrome" RELATED [OMIM:602562] xref: MESH:C566520 {source="MONDO:equivalentTo"} xref: OMIM:602562 {source="Orphanet:357158", source="MONDO:equivalentTo", source="Orphanet:357158/e"} xref: Orphanet:357158 {source="OMIM:602562", source="MONDO:equivalentTo"} xref: UMLS:C1865181 {source="Orphanet:357158", source="OMIM:602562", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015334 {source="Orphanet:357158"} ! branchial arch or oral-acral syndrome is_a: MONDO:0015483 {source="Orphanet:357158"} ! mandibulofacial dysostosis is_a: MONDO:0018454 {source="MONDO:0019710-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin is_a: MONDO:0018751 ! hereditary otorhinolaryngologic disease property_value: exactMatch http://identifiers.org/mesh/C566520 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865181 property_value: exactMatch https://omim.org/entry/602562 property_value: exactMatch Orphanet:357158 [Term] id: MONDO:0011257 name: MPI-congenital disorder of glycosylation def: "MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1)." [Orphanet:79319] subset: ordo_disease {source="Orphanet:79319"} synonym: "carbohydrate deficient glycoprotein syndrome type IB" EXACT [Orphanet:79319] synonym: "carbohydrate-deficient glycoprotein syndrome type 1B" RELATED [GARD:0009830] synonym: "CDG 1B" RELATED [GARD:0009830] synonym: "CDG gastrointestinal type" RELATED [GARD:0009830] synonym: "CDG Ib" RELATED [OMIM:602579] synonym: "CDG syndrome type IB" EXACT [Orphanet:79319] synonym: "CDG, gastrointestinal type" RELATED [OMIM:602579] synonym: "CDG-Ib" EXACT [Orphanet:79319] synonym: "CDG1B" EXACT ABBREVIATION [MONDO:Lexical, OMIM:602579, Orphanet:79319] synonym: "congenital disorder of glycosylation type 1b" EXACT [Orphanet:79319] synonym: "congenital disorder of glycosylation type IB" EXACT [Orphanet:79319] synonym: "congenital disorder of glycosylation, type IB" RELATED [MONDO:Lexical, OMIM:602579] synonym: "Mannosephosphate isomerase deficiency" RELATED [OMIM:602579] synonym: "Mpi deficiency" RELATED [OMIM:602579] synonym: "MPI-CDG" EXACT ABBREVIATION [Orphanet:79319] synonym: "MPI-CDG (CDG-Ib)" RELATED [GARD:0009830] synonym: "phosphomannose isomerase deficiency" EXACT [Orphanet:79319] synonym: "Protein-losing enteropathy-hepatic fibrosis syndrome" RELATED [OMIM:602579] synonym: "Saguenay Lac Saint Jean syndrome" RELATED [GARD:0009830] synonym: "Saguenay-Lac Saint-Jean syndrome" RELATED [OMIM:602579] synonym: "SLSJ syndrome" RELATED [GARD:0009830] synonym: "Slsj syndrome" RELATED [OMIM:602579] xref: DOID:0080554 {source="MONDO:equivalentTo"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535740 {source="MONDO:equivalentTo"} xref: OMIM:602579 {source="Orphanet:79319", source="MONDO:equivalentTo", source="Orphanet:79319/e"} xref: Orphanet:79319 {source="MONDO:equivalentTo", source="OMIM:602579"} xref: SCTID:124668009 {source="MONDO:equivalentTo"} is_a: EFO:0005545 {source="DC-OMIM:602579"} ! congenital disorder of glycosylation type I is_a: MONDO:0017740 {source="Orphanet:79319"} ! disorder of protein N-glycosylation is_a: MONDO:0019313 ! lymphatic malformation is_a: MONDO:0019520 {source="Orphanet:79319"} ! syndromic lymphedema property_value: exactMatch DOID:0080554 property_value: exactMatch http://identifiers.org/mesh/C535740 property_value: exactMatch http://identifiers.org/snomedct/124668009 property_value: exactMatch https://omim.org/entry/602579 property_value: exactMatch Orphanet:79319 [Term] id: MONDO:0011261 name: spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability def: "A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. This is an n-of-1 use case where only one patient or family has been described with this disorder." [Orphanet:163649] subset: n_of_one {source="OMIM:602611"} subset: ordo_disease {source="Orphanet:163649"} synonym: "spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability" EXACT [OMIM:602611] synonym: "spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation" EXACT DEPRECATED [OMIM:602611] synonym: "spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataract-intellectual disability syndrome" EXACT [Orphanet:163649] xref: DOID:0112294 {source="MONDO:equivalentTo"} xref: MESH:C566515 {source="MONDO:equivalentTo"} xref: OMIM:602611 {source="Orphanet:163649/e", source="MONDO:equivalentTo", source="Orphanet:163649"} xref: Orphanet:163649 {source="OMIM:602611", source="MONDO:equivalentTo"} xref: SCTID:718766002 {source="MONDO:equivalentTo"} is_a: MONDO:0016761 {source="Orphanet:163649"} ! spondyloepiphyseal dysplasia property_value: exactMatch DOID:0112294 property_value: exactMatch http://identifiers.org/mesh/C566515 property_value: exactMatch http://identifiers.org/snomedct/718766002 property_value: exactMatch https://omim.org/entry/602611 property_value: exactMatch Orphanet:163649 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:163649"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0011264 name: torsion dystonia 6 def: "Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases." [Orphanet:98806] subset: ordo_disease {source="Orphanet:98806"} synonym: "adolescent-onset dystonia of mixed type" RELATED [GARD:0009630] synonym: "dystonia 6" RELATED [GARD:0009630] synonym: "dystonia 6, torsion" RELATED [MONDO:Lexical, OMIM:602629] synonym: "DYT-THAP1" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/, MONDO:cjm] synonym: "DYT6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:602629, Orphanet:98806] synonym: "generalised cervical and upper-limb-onset dystonia" EXACT OMO:0003005 [] synonym: "generalised isolated dystonia caused by mutation in THAP1" EXACT OMO:0003005 [] synonym: "generalized cervical and upper-limb-onset dystonia" EXACT [Orphanet:98806] synonym: "generalized isolated dystonia caused by mutation in THAP1" EXACT [MONDO:design_pattern] synonym: "idiopathic torsion dystonia of mixed type" EXACT [Orphanet:98806] synonym: "primary dystonia, DYT6 type" RELATED [Orphanet:98806] synonym: "THAP1 generalised isolated dystonia" EXACT OMO:0003005 [] synonym: "THAP1 generalized isolated dystonia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "torsion dystonia adult onset mixed type" RELATED [GARD:0009630] synonym: "torsion dystonia type 6" EXACT [DOID:0090039, MONDORULE:1] synonym: "torsion dystonia, adult-onset, mixed type" RELATED [OMIM:602629] xref: DOID:0090039 {source="MONDO:equivalentTo"} xref: MESH:C538003 {source="MONDO:equivalentTo"} xref: NCIT:C156361 {source="MONDO:equivalentTo"} xref: OMIM:602629 {source="Orphanet:98806/e", source="MONDO:equivalentTo", source="Orphanet:98806", source="DOID:0090039"} xref: Orphanet:98806 {source="MONDO:equivalentTo", source="DOID:0090039", source="OMIM:602629"} xref: SCTID:702448007 {source="MONDO:equivalentTo"} xref: UMLS:C1414216 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:98806", source="OMIM:602629"} is_a: MONDO:0000476 {source="MONDO:Redundant", source="Orphanet:98806"} ! generalized dystonia property_value: exactMatch DOID:0090039 property_value: exactMatch http://identifiers.org/mesh/C538003 property_value: exactMatch http://identifiers.org/snomedct/702448007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1414216 property_value: exactMatch https://omim.org/entry/602629 property_value: exactMatch NCIT:C156361 property_value: exactMatch Orphanet:98806 [Term] id: MONDO:0011266 name: myotonic dystrophy type 2 def: "Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders." [Orphanet:606] subset: gard_rare {source="GARD:0009728"} subset: ordo_disease {source="Orphanet:606"} synonym: "CNBP myotonic dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "DM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602668] synonym: "dystrophia myotonica 2" RELATED [OMIM:602668] synonym: "dystrophia myotonica type 2" RELATED [GARD:0009728] synonym: "myotonic dystrophy 2" RELATED [MONDO:Lexical, OMIM:602668] synonym: "myotonic dystrophy caused by mutation in CNBP" EXACT [MONDO:design_pattern] synonym: "myotonic dystrophy type 2" EXACT [MONDORULE:1, OMIM:602668, Orphanet:606] synonym: "myotonic myopathy, proximal" RELATED [OMIM:602668] synonym: "PROMM" RELATED ABBREVIATION [GARD:0009728] synonym: "proximal myotonic dystrophy" EXACT [Orphanet:606] synonym: "proximal myotonic myopathy" EXACT [DOID:0050759] synonym: "ricker disease" EXACT [Orphanet:606] synonym: "ricker syndrome" EXACT [OMIM:602668, Orphanet:606] xref: DOID:0050759 {source="MONDO:equivalentTo"} xref: ICD9:359.2 {source="DOID:0050759"} xref: NCIT:C122789 {source="MONDO:relatedTo", source="DOID:0050759"} xref: NCIT:C122790 {source="MONDO:relatedTo", source="DOID:0050759"} xref: NCIT:C84680 {source="MONDO:equivalentTo"} xref: OMIM:602668 {source="MONDO:equivalentTo", source="Orphanet:606", source="DOID:0050759", source="Orphanet:606/e"} xref: Orphanet:606 {source="MONDO:equivalentTo", source="OMIM:602668"} xref: SCTID:41574007 {source="MONDO:relatedTo", source="DOID:0050759"} xref: UMLS:C0752355 {source="MONDO:relatedTo", source="DOID:0050759"} is_a: MONDO:0016107 {source="DC-OMIM:602668", source="DOID:0050759", source="MONDO:Redundant", source="NCIT:C84680", source="OMIM:602668", source="Orphanet:606"} ! myotonic dystrophy is_a: MONDO:0020158 {source="MONDO:0020169-obsoleted"} ! eyelids malposition disorder property_value: exactMatch DOID:0050759 property_value: exactMatch https://omim.org/entry/602668 property_value: exactMatch NCIT:C84680 property_value: exactMatch Orphanet:606 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9728/myotonic-dystrophy-type-2 xsd:anyURI {source="GARD:0009728"} [Term] id: MONDO:0011271 name: rigid spine muscular dystrophy 1 def: "An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage." [NCIT:C126691] synonym: "classic MmD" BROAD [DOID:0110633] synonym: "classic multiminicore disease" BROAD [DOID:0110633] synonym: "classic multiminicore myopathy" BROAD [DOID:0110633] synonym: "congenital merosin-positive muscular dystrophy with early spine rigidity" EXACT [DOID:0110633] synonym: "desmin-related myopathy with Mallory bodies" EXACT [DOID:0110633, OMIM:602771] synonym: "Eichsfeld type congenital muscular dystrophy" EXACT [DOID:0110633] synonym: "MDRS1" EXACT ABBREVIATION [DOID:0110633] synonym: "minicore myopathy, severe classic form" EXACT [OMIM:602771] synonym: "multicore myopathy, severe classic form" EXACT [OMIM:602771] synonym: "multiminicore disease, severe classic form" EXACT [OMIM:602771] synonym: "muscular dystrophy, congenital, Eichsfeld type" EXACT [OMIM:602771] synonym: "muscular dystrophy, congenital, merosin-positive, with early spine rigidity" EXACT [OMIM:602771] synonym: "muscular dystrophy, rigid spine, 1" EXACT [OMIM:602771, OMIM:genemap2] synonym: "myopathy, SEPN1-related" EXACT [OMIM:602771] synonym: "rigid spine muscular dystrophy 1" EXACT [MONDO:Lexical, OMIM:602771] synonym: "rigid spine muscular dystrophy type 1" EXACT [DOID:0110633, MONDORULE:1, OMIM:602771] synonym: "rigid spine syndrome" BROAD [DOID:0110633, OMIM:602771] synonym: "rigid spine syndrome caused by mutation in SELENON" EXACT [MONDO:design_pattern] synonym: "RSMD1" EXACT ABBREVIATION [DOID:0110633, MONDO:Lexical, OMIM:602771] synonym: "RSS" EXACT ABBREVIATION [DOID:0110633] synonym: "SELENON rigid spine syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SEPN1-related myopathy" RELATED [DOID:0110633] synonym: "severe classic form minicore myopathy" EXACT [DOID:0110633] synonym: "severe classic form multicore myopathy" EXACT [DOID:0110633] synonym: "severe classic form multiminicore disease" EXACT [DOID:0110633] xref: DOID:0110633 {source="MONDO:equivalentTo"} xref: NCIT:C126691 {source="MONDO:equivalentTo"} xref: OMIM:602771 {source="DOID:0110633", source="MONDO:equivalentTo"} xref: SCTID:240063002 {source="MONDO:equivalentTo"} xref: UMLS:C0410180 {source="NCIT:C126691", source="OMIM:602771", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018948 {source="Orphanet:598/btnt"} ! multiminicore myopathy is_a: MONDO:0019951 {source="MONDO:Redundant"} ! rigid spine syndrome is_a: MONDO:0100100 ! SELENON-related myopathy property_value: exactMatch DOID:0110633 property_value: exactMatch http://identifiers.org/snomedct/240063002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0410180 property_value: exactMatch https://omim.org/entry/602771 property_value: exactMatch NCIT:C126691 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011273 name: H syndrome def: "A systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML)." [https://orcid.org/0000-0001-5208-3432, Orphanet:168569] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:168569"} synonym: "Asrar Facharzt Haque syndrome" EXACT [MONDO:0021937] synonym: "Faisalabad histiocytosis" RELATED [OMIM:602782] synonym: "H syndrome" EXACT [OMIM:602782] synonym: "histiocytosis and lymphadenopathy with or without cutaneous, Cardiac, and/or endocrine features, Joint contractures, and/or deafness" RELATED [OMIM:602782] synonym: "histiocytosis with Joint contractures and sensorineural deafness" RELATED [OMIM:602782] synonym: "histiocytosis-lymphadenopathy plus syndrome" RELATED [OMIM:602782] synonym: "HJCD" RELATED ABBREVIATION [GARD:0010239] synonym: "hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss" RELATED [OMIM:602782] synonym: "pigmented hypertrichosis with insulin-dependent diabetes mellitus" RELATED [OMIM:602782] synonym: "Rosai-Dorfman disease, familial" RELATED [OMIM:602782] synonym: "sinus histiocytosis and massive lymphadenopathy" RELATED [OMIM:602782] synonym: "SLC29A3 spectrum disorder" RELATED [GARD:0010239] xref: DOID:0111278 {source="MONDO:equivalentTo"} xref: MESH:C535391 {source="MONDO:equivalentTo"} xref: MESH:C538322 {source="MONDO:equivalentTo"} xref: OMIM:602782 {source="MONDO:equivalentTo", source="Orphanet:168569", source="Orphanet:168569/e"} xref: Orphanet:158014 {source="OMIM:602782", source="MONDO:relatedTo"} xref: Orphanet:168569 {source="OMIM:602782", source="MONDO:equivalentTo"} xref: SCTID:711159002 {source="MONDO:equivalentTo"} xref: UMLS:C1864445 {source="OMIM:602782", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C2930890 {source="MONDO:equivalentTo", source="GARD:0000581"} is_a: EFO:0009673 {source="MESH:C535391", source="MESH:C535391/inferred"} ! laryngeal disease is_a: MONDO:0006412 {source="MESH:C535391"} ! sinus histiocytosis with massive lymphadenopathy is_a: MONDO:0019289 {source="Orphanet:168569"} ! hyperpigmentation of the skin relationship: has_characteristic MONDO:0021136 {source="MONDO:0015886", source="MONDO:0015967"} ! rare property_value: exactMatch DOID:0111278 property_value: exactMatch http://identifiers.org/mesh/C535391 property_value: exactMatch http://identifiers.org/mesh/C538322 property_value: exactMatch http://identifiers.org/snomedct/711159002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864445 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930890 property_value: exactMatch https://omim.org/entry/602782 property_value: exactMatch Orphanet:168569 property_value: excluded_subClassOf MONDO:0005015 {source="MONDO:Redundant", source="Orphanet:168569"} property_value: excluded_subClassOf MONDO:0005147 {source="Orphanet:168569"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5723 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/581/asrar-facharzt-haque-syndrome xsd:anyURI {source="GARD:0000581"} [Term] id: MONDO:0011274 name: Muenke syndrome def: "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." [Orphanet:53271] subset: gard_rare {source="GARD:0007097"} subset: ordo_malformation_syndrome {source="Orphanet:53271"} synonym: "FGFR3-related craniosynostosis" EXACT [DOID:0060703] synonym: "MNKES" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602849] synonym: "Muenke nonsyndromic coronal craniosynostosis" RELATED [OMIM:602849] synonym: "Muenke syndrome" EXACT [MONDO:Lexical, OMIM:602849] synonym: "syndrome of coronal craniosynostosis" RELATED [GARD:0007097] xref: DOID:0060703 {source="MONDO:equivalentTo"} xref: MESH:C537369 {source="Orphanet:53271/e", source="MONDO:equivalentTo", source="DOID:0060703", source="Orphanet:53271"} xref: NCIT:C84904 {source="MONDO:equivalentTo"} xref: OMIM:602849 {source="Orphanet:53271/e", source="MONDO:equivalentTo", source="DOID:0060703", source="Orphanet:53271"} xref: Orphanet:53271 {source="MONDO:equivalentTo", source="DOID:0060703", source="OMIM:602849"} xref: SCTID:440350001 {source="MONDO:equivalentTo"} xref: UMLS:C1864436 {source="Orphanet:53271/e", source="MONDO:equivalentTo", source="NCIT:C84904", source="MONDO:ncbi_mim2gene_medline", source="DOID:0060703", source="Orphanet:53271", source="OMIM:602849"} is_a: MONDO:0015338 {source="Orphanet:53271", source="PMID:31633310"} ! syndromic craniosynostosis property_value: exactMatch DOID:0060703 property_value: exactMatch http://identifiers.org/mesh/C537369 property_value: exactMatch http://identifiers.org/snomedct/440350001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864436 property_value: exactMatch https://omim.org/entry/602849 property_value: exactMatch NCIT:C84904 property_value: exactMatch Orphanet:53271 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7097/muenke-syndrome xsd:anyURI {source="GARD:0007097"} [Term] id: MONDO:0011275 name: acromesomelic dysplasia 1, Maroteaux type def: "A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type." [Orphanet:40] subset: gard_rare {source="GARD:0000507"} subset: ordo_malformation_syndrome {source="Orphanet:40"} synonym: "acromesomelic dwarfism Maroteux type" RELATED [GARD:0000507] synonym: "acromesomelic dysplasia 1, Maroteaux type" EXACT [OMIM:602875, OMIM:genemap2] synonym: "acromesomelic dysplasia Maroteaux type" RELATED [GARD:0000507] synonym: "acromesomelic dysplasia, Maroteaux type" EXACT [MONDO:Lexical, OMIM:602875] synonym: "AMDM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602875] synonym: "St. Helena dysplasia" RELATED [OMIM:602875] xref: DOID:0080050 {source="MONDO:equivalentTo"} xref: MESH:C535661 {source="Orphanet:40/e", source="MONDO:equivalentTo", source="Orphanet:40"} xref: OMIM:602875 {source="Orphanet:40/e", source="MONDO:equivalentTo", source="DOID:0080050", source="Orphanet:40"} xref: Orphanet:40 {source="OMIM:602875", source="MONDO:equivalentTo"} xref: SCTID:718559000 {source="MONDO:equivalentTo"} is_a: MONDO:0019696 {source="OMIM:602875", source="PMID:31633310"} ! acromesomelic dysplasia property_value: exactMatch DOID:0080050 property_value: exactMatch http://identifiers.org/mesh/C535661 property_value: exactMatch http://identifiers.org/snomedct/718559000 property_value: exactMatch https://omim.org/entry/602875 property_value: exactMatch Orphanet:40 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/507/acromesomelic-dysplasia-maroteaux-type xsd:anyURI {source="GARD:0000507"} [Term] id: MONDO:0011283 name: mitochondrial DNA depletion syndrome 1 synonym: "mitochondrial DNA depletion syndrome 1" EXACT [] synonym: "mitochondrial DNA depletion syndrome 1 (MNGIE type)" RELATED [MONDO:Lexical, OMIM:603041] synonym: "mitochondrial DNA depletion syndrome type 1" EXACT [DOID:0080119, MONDORULE:1] synonym: "mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related" RELATED [OMIM:603041] synonym: "Mngie, tymp-related" RELATED [OMIM:603041] synonym: "MTDPS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:603041] synonym: "myoneurogastrointestinal encephalopathy syndrome" RELATED [OMIM:603041] synonym: "Polip syndrome" RELATED [OMIM:603041] synonym: "polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction" RELATED [OMIM:603041] xref: DOID:0080119 {source="MONDO:equivalentTo"} xref: OMIM:603041 {source="MONDO:equivalentTo", source="DOID:0080119"} xref: Orphanet:298 {source="MONDO:relatedTo", source="OMIM:603041"} is_a: MONDO:0018158 {source="DC-OMIM:603041", source="OMIM:603041"} ! mitochondrial DNA depletion syndrome property_value: exactMatch DOID:0080119 property_value: exactMatch https://omim.org/entry/603041 [Term] id: MONDO:0011287 name: craniosynostosis-anal anomalies-porokeratosis syndrome def: "Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S)." [Orphanet:85199] subset: ordo_malformation_syndrome {source="Orphanet:85199"} synonym: "CAP syndrome" EXACT [OMIM:603116, Orphanet:85199] synonym: "CDAGS syndrome" EXACT [OMIM:603116, Orphanet:85199] synonym: "craniosynostosis and clavicular hypoplasia, delayed closure of the fontanel, anal anomalies and genitourinary malformations" RELATED [GARD:0009506] synonym: "craniosynostosis, anal anomalies, and porokeratosis" RELATED [OMIM:603116] xref: MESH:C536789 {source="Orphanet:85199", source="MONDO:equivalentTo", source="Orphanet:85199/e"} xref: OMIM:603116 {source="Orphanet:85199", source="MONDO:equivalentTo", source="Orphanet:85199/e"} xref: Orphanet:85199 {source="OMIM:603116", source="MONDO:equivalentTo"} xref: SCTID:720812002 {source="MONDO:equivalentTo"} is_a: MONDO:0015338 {source="Orphanet:85199"} ! syndromic craniosynostosis property_value: exactMatch http://identifiers.org/mesh/C536789 property_value: exactMatch http://identifiers.org/snomedct/720812002 property_value: exactMatch https://omim.org/entry/603116 property_value: exactMatch Orphanet:85199 [Term] id: MONDO:0011291 name: ALG6-congenital disorder of glycosylation 1C def: "A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3)." [Orphanet:79320] subset: ordo_disease {source="Orphanet:79320"} synonym: "ALG6 congenital disorder of glycosylation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "ALG6-CDG" RELATED [Orphanet:79320] synonym: "ALG6-CDG (CDG-Ic)" EXACT [GARD:0009829] synonym: "ALG6-CDG1C" EXACT ABBREVIATION [Orphanet:79320] synonym: "ALG6-congenital disorder of glycosylation 1C" EXACT [] synonym: "carbohydrate deficient glycoprotein syndrome type Ic" EXACT [Orphanet:79320] synonym: "carbohydrate-deficient glycoprotein syndrome type 1C" RELATED [GARD:0009829] synonym: "carbohydrate-deficient glycoprotein syndrome, type 1 with deficient glycosylation of dolichol-linked oligosaccharide (formerly)" RELATED [GARD:0009829] synonym: "carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharide" RELATED [OMIM:603147] synonym: "carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharide, formerly" RELATED [OMIM:603147] synonym: "carbohydrate-deficient glycoprotein syndrome, type V" RELATED [OMIM:603147] synonym: "carbohydrate-deficient glycoprotein syndrome, type V (formerly)" RELATED [GARD:0009829] synonym: "carbohydrate-deficient glycoprotein syndrome, type V, formerly" RELATED [OMIM:603147] synonym: "CDG 1C" RELATED [GARD:0009829] synonym: "CDG Ic" RELATED [OMIM:603147] synonym: "CDG syndrome type Ic" EXACT [Orphanet:79320] synonym: "CDG-Ic" EXACT [Orphanet:79320] synonym: "CDG1C" EXACT ABBREVIATION [MONDO:Lexical, OMIM:603147, Orphanet:79320] synonym: "CDGIc" EXACT [NCIT:C126869] synonym: "CDGS5 (formerly)" RELATED [GARD:0009829] synonym: "congenital disorder of glycosylation caused by mutation in ALG6" EXACT [MONDO:design_pattern] synonym: "congenital disorder of glycosylation type 1C" EXACT [Orphanet:79320] synonym: "congenital disorder of glycosylation type Ic" EXACT [Orphanet:79320] synonym: "congenital disorder of glycosylation, type Ic" RELATED [MONDO:Lexical, OMIM:603147] synonym: "glucosyltransferase 1 deficiency" EXACT [Orphanet:79320] xref: DOID:0080555 {source="MONDO:equivalentTo"} xref: MESH:C535741 {source="MONDO:equivalentTo"} xref: NCIT:C126869 {source="MONDO:equivalentTo"} xref: OMIM:603147 {source="Orphanet:79320/e", source="MONDO:equivalentTo", source="Orphanet:79320"} xref: Orphanet:79320 {source="OMIM:603147", source="MONDO:equivalentTo"} xref: SCTID:709412006 {source="MONDO:equivalentTo"} xref: UMLS:C2930997 {source="OMIM:603147", source="MONDO:equivalentTo", source="Orphanet:79320", source="NCIT:C126869"} is_a: EFO:0005545 {source="DC-OMIM:603147"} ! congenital disorder of glycosylation type I is_a: MONDO:0017740 {source="Orphanet:79320"} ! disorder of protein N-glycosylation property_value: exactMatch DOID:0080555 property_value: exactMatch http://identifiers.org/mesh/C535741 property_value: exactMatch http://identifiers.org/snomedct/709412006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930997 property_value: exactMatch https://omim.org/entry/603147 property_value: exactMatch NCIT:C126869 property_value: exactMatch Orphanet:79320 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0011299 name: Huntington disease-like 1 def: "Any neurodegenerative disease with chorea in which the cause of the disease is a mutation in the PRNP gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:157941"} synonym: "autosomal dominant Huntington-like neurodegenerative disorder" EXACT [DOID:0090103] synonym: "early-onset prion disease with prominent psychiatric features" EXACT [DOID:0090103, Orphanet:157941] synonym: "HDL1" EXACT ABBREVIATION [DOID:0090103, MONDO:Lexical, OMIM:603218, Orphanet:157941] synonym: "HLN1" EXACT ABBREVIATION [DOID:0090103] synonym: "Huntington disease-like 1" EXACT [MONDO:Lexical, OMIM:603218] synonym: "Huntington disease-like type 1" EXACT [DOID:0090103, MONDORULE:1, OMIM:603218, Orphanet:157941] synonym: "Huntington's disease-like 1" RELATED [DOID:0090103] synonym: "Huntington-like neurodegenerative disorder 1" EXACT [DOID:0090103, OMIM:603218] synonym: "Huntington-like neurodegenerative disorder, autosomal dominant" RELATED [OMIM:603218] synonym: "neurodegenerative disease with chorea caused by mutation in PRNP" EXACT [MONDO:design_pattern] synonym: "prion disease, early-onset, with prominent psychiatric features" RELATED [OMIM:603218] synonym: "PRNP neurodegenerative disease with chorea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090103 {source="MONDO:equivalentTo"} xref: MESH:C566398 {source="MONDO:equivalentTo"} xref: OMIM:603218 {source="Orphanet:157941", source="MONDO:equivalentTo", source="DOID:0090103", source="Orphanet:157941/e"} xref: Orphanet:157941 {source="MONDO:equivalentTo", source="OMIM:603218", source="DOID:0090103"} xref: UMLS:C1864112 {source="Orphanet:157941", source="MONDO:equivalentTo", source="OMIM:603218", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0017234 {source="Orphanet:157941", source="https://orcid.org/0000-0001-5208-3432"} ! inherited prion disease property_value: exactMatch DOID:0090103 property_value: exactMatch http://identifiers.org/mesh/C566398 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864112 property_value: exactMatch https://omim.org/entry/603218 property_value: exactMatch Orphanet:157941 property_value: excluded_subClassOf MONDO:0000167 {source="DC-OMIM:603218"} property_value: excluded_subClassOf MONDO:0005395 [Term] id: MONDO:0011301 name: pseudohypoparathyroidism type 1B def: "Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance." [Orphanet:94089] subset: gard_rare {source="GARD:0010680"} subset: ordo_disease {source="Orphanet:94089"} synonym: "Php 1B" RELATED [OMIM:603233] synonym: "PHP1B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:603233] synonym: "pseudohypoparathyroidism Ib" EXACT [OMIM:603233, OMIM:genemap2] synonym: "pseudohypoparathyroidism type IB" RELATED [DOID:0080222] synonym: "pseudohypoparathyroidism, type 1B" RELATED [OMIM:603233] synonym: "pseudohypoparathyroidism, type IB" RELATED [MONDO:Lexical, OMIM:603233] xref: DOID:0080222 {source="MONDO:equivalentTo"} xref: MESH:C548075 {source="Orphanet:94089", source="MONDO:equivalentTo", source="Orphanet:94089/e"} xref: OMIM:603233 {source="Orphanet:94089", source="DOID:0080222", source="MONDO:equivalentTo", source="Orphanet:94089/e"} xref: Orphanet:94089 {source="OMIM:603233", source="MONDO:equivalentTo"} xref: UMLS:C2932715 {source="Orphanet:94089", source="MONDO:equivalentTo", source="Orphanet:94089/e"} is_a: MONDO:0019992 {source="DOID:0080222", source="MESH:C548075", source="MONDO:0018700-obsoleted", source="Orphanet:94089", source="Orphanet:94089/inferred"} ! pseudohypoparathyroidism property_value: exactMatch DOID:0080222 property_value: exactMatch http://identifiers.org/mesh/C548075 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2932715 property_value: exactMatch https://omim.org/entry/603233 property_value: exactMatch Orphanet:94089 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10680/pseudohypoparathyroidism-type-1b xsd:anyURI {source="GARD:0010680"} [Term] id: MONDO:0011303 name: focal segmental glomerulosclerosis 1 def: "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_histopathological_subtype {source="Orphanet:93213"} synonym: "ACTN4 focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis" EXACT [Orphanet:93213] synonym: "familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis" RELATED [Orphanet:93213] synonym: "focal segmental glomerulosclerosis 1" EXACT [MONDO:Lexical, OMIM:603278] synonym: "focal segmental glomerulosclerosis caused by mutation in ACTN4" EXACT [MONDO:design_pattern] synonym: "focal segmental glomerulosclerosis type 1" EXACT [DOID:0111128, MONDORULE:1, OMIM:603278] synonym: "FSGS1" EXACT ABBREVIATION [DOID:0111128, MONDO:Lexical, OMIM:603278] synonym: "glomerulosclerosis, focal segmental, 1" RELATED [OMIM:603278] xref: DOID:0111128 {source="MONDO:equivalentTo"} xref: MESH:C538457 {source="MONDO:equivalentTo"} xref: OMIM:603278 {source="DOID:0111128", source="MONDO:equivalentTo", source="Orphanet:93213"} xref: Orphanet:93213 {source="MONDO:equivalentObsolete"} is_a: MONDO:0005363 {source="DC-OMIM:603278", source="DOID:0111128", source="MESH:C538457", source="MONDO:Redundant", source="OMIM:603278"} ! inherited focal segmental glomerulosclerosis is_a: MONDO:0019006 {source="Orphanet:93213"} ! familial idiopathic steroid-resistant nephrotic syndrome property_value: exactMatch DOID:0111128 property_value: exactMatch http://identifiers.org/mesh/C538457 property_value: exactMatch https://omim.org/entry/603278 [Term] id: MONDO:0011308 name: GRACILE syndrome def: "GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E)." [Orphanet:53693] subset: gard_rare subset: ordo_disease {source="Orphanet:53693"} synonym: "Fellman disease" EXACT [Orphanet:53693] synonym: "Fellman syndrome" RELATED [GARD:0000001, OMIM:603358] synonym: "Finnish lactic acidosis with hepatic hemosiderosis" RELATED [GARD:0000001] synonym: "Finnish lethal neonatal metabolic syndrome" RELATED [GARD:0000001, OMIM:603358] synonym: "FLNMS" RELATED ABBREVIATION [GARD:0000001] synonym: "gracile syndrome" EXACT [OMIM:603358] synonym: "Growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome" EXACT [Orphanet:53693] synonym: "Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome" EXACT [Orphanet:53693] synonym: "Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death" RELATED [OMIM:603358] synonym: "Growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis and early death" RELATED [GARD:0000001] synonym: "lactic acidosis, Finnish, with hepatic hemosiderosis" RELATED [OMIM:603358] xref: DOID:0111455 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537934 {source="Orphanet:53693/e", source="MONDO:equivalentTo", source="Orphanet:53693"} xref: OMIM:603358 {source="GARD:0000001", source="Orphanet:53693/e", source="MONDO:equivalentTo", source="Orphanet:53693"} xref: Orphanet:53693 {source="GARD:0000001", source="OMIM:603358", source="MONDO:equivalentTo"} xref: SCTID:703388005 {source="MONDO:equivalentTo"} xref: UMLS:C1864002 {source="GARD:0000001", source="OMIM:603358", source="Orphanet:53693/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:53693"} is_a: MONDO:0044970 {source="Orphanet:53693"} ! mitochondrial disease property_value: exactMatch DOID:0111455 property_value: exactMatch http://identifiers.org/mesh/C537934 property_value: exactMatch http://identifiers.org/snomedct/703388005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864002 property_value: exactMatch https://omim.org/entry/603358 property_value: exactMatch Orphanet:53693 [Term] id: MONDO:0011309 name: familial gestational hyperthyroidism subset: ordo_disease {source="Orphanet:99819"} synonym: "hyperthyroidism, familial gestational" RELATED [OMIM:603373] xref: DOID:0081102 {source="MONDO:equivalentTo"} xref: ICD9:242.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:648.10 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C566384 {source="Orphanet:99819/e", source="MONDO:equivalentTo", source="Orphanet:99819"} xref: OMIM:603373 {source="Orphanet:99819/e", source="MONDO:equivalentTo", source="Orphanet:99819"} xref: Orphanet:99819 {source="MONDO:equivalentTo", source="OMIM:603373"} xref: SCTID:703309000 {source="MONDO:equivalentTo"} xref: UMLS:C1863959 {source="Orphanet:99819/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:603373", source="Orphanet:99819"} is_a: EFO:0009189 {source="Orphanet:99819"} ! hyperthyroidism is_a: EFO:0009682 {source="Orphanet:99819"} ! pregnancy disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0015582", source="MONDO:0015894"} ! rare property_value: exactMatch DOID:0081102 property_value: exactMatch http://identifiers.org/mesh/C566384 property_value: exactMatch http://identifiers.org/snomedct/703309000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863959 property_value: exactMatch https://omim.org/entry/603373 property_value: exactMatch Orphanet:99819 [Term] id: MONDO:0011320 name: radioulnar synostosis-microcephaly-scoliosis syndrome def: "An extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit." [https://orcid.org/0000-0001-5208-3432, Orphanet:3268] subset: ordo_malformation_syndrome {source="Orphanet:3268"} synonym: "Giuffre-Tsukahara syndrome" EXACT [OMIM:603438, Orphanet:3268] synonym: "Giuffré-Tsukahara syndrome" EXACT [Orphanet:3268] synonym: "radioulnar synostosis with microcephaly, short stature, scoliosis, and intellectual disability" RELATED [OMIM:603438] synonym: "radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation" RELATED DEPRECATED [OMIM:603438] synonym: "Tsukahara syndrome" EXACT [Orphanet:3268] synonym: "Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and intellectual disability" RELATED [GARD:0000394] synonym: "Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation" RELATED DEPRECATED [GARD:0000394] xref: OMIM:603438 {source="Orphanet:3268", source="MONDO:equivalentTo", source="Orphanet:3268/e"} xref: Orphanet:3268 {source="MONDO:equivalentTo", source="OMIM:603438"} xref: UMLS:C1863881 {source="Orphanet:3268", source="MONDO:equivalentTo", source="OMIM:603438", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863881 property_value: exactMatch https://omim.org/entry/603438 property_value: exactMatch Orphanet:3268 [Term] id: MONDO:0011323 name: arhinia, choanal atresia, and microphthalmia synonym: "arhinia, choanal atresia, and microphthalmia" EXACT [OMIM:603457] synonym: "arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism" RELATED [OMIM:603457] synonym: "BAMS" RELATED ABBREVIATION [OMIM:603457] synonym: "BOSMA arhinia microphthalmia syndrome" RELATED [OMIM:603457] synonym: "Bosma arhinia microphthalmia syndrome" RELATED [OMIM:603457] xref: MESH:C537429 {source="MONDO:equivalentTo"} xref: OMIM:603457 {source="MONDO:equivalentTo"} xref: Orphanet:1135 {source="MONDO:relatedTo", source="OMIM:603457"} xref: SCTID:720511000 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C537429 property_value: exactMatch http://identifiers.org/snomedct/720511000 property_value: exactMatch https://omim.org/entry/603457 [Term] id: MONDO:0011327 name: neuronal intranuclear inclusion disease def: "Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss." [Orphanet:2289] subset: gard_rare {source="GARD:0003971"} subset: ordo_disease {source="Orphanet:2289"} synonym: "neuronal intranuclear hyaline inclusion disease" RELATED [GARD:0003971] synonym: "neuronal intranuclear inclusion disease" EXACT [OMIM:603472] synonym: "Niid" RELATED [OMIM:603472] xref: DOID:0081294 {source="MONDO:equivalentTo"} xref: MESH:C537395 {source="Orphanet:2289", source="MONDO:equivalentTo", source="Orphanet:2289/e"} xref: NCIT:C122655 {source="MONDO:equivalentTo"} xref: OMIM:603472 {source="Orphanet:2289", source="MONDO:equivalentTo", source="Orphanet:2289/e"} xref: Orphanet:2289 {source="MONDO:equivalentTo", source="OMIM:603472"} xref: SCTID:715437003 {source="MONDO:equivalentTo"} xref: UMLS:C1863843 {source="Orphanet:2289", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2289/e", source="NCIT:C122655", source="OMIM:603472"} is_a: EFO:0004280 ! movement disorder is_a: MONDO:0015547 ! hereditary dementia is_a: MONDO:0024237 {source="Orphanet:2289"} ! inherited neurodegenerative disorder relationship: disease_arises_from_feature EFO:0005772 ! neurodegenerative disease relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch DOID:0081294 property_value: exactMatch http://identifiers.org/mesh/C537395 property_value: exactMatch http://identifiers.org/snomedct/715437003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863843 property_value: exactMatch https://omim.org/entry/603472 property_value: exactMatch NCIT:C122655 property_value: exactMatch Orphanet:2289 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3971/neuronal-intranuclear-inclusion-disease xsd:anyURI {source="GARD:0003971"} [Term] id: MONDO:0011330 name: spinocerebellar ataxia type 10 def: "Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." [Orphanet:98761] subset: ordo_disease {source="Orphanet:98761"} synonym: "SCA10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:603516, Orphanet:98761] synonym: "spinocerebellar ataxia 10" RELATED [MONDO:Lexical, OMIM:603516] synonym: "spinocerebellar ataxia type 10" EXACT [MONDORULE:2, OMIM:603516] xref: DOID:0050960 {source="MONDO:equivalentTo"} xref: MESH:C566874 {source="MONDO:equivalentTo"} xref: OMIM:603516 {source="DOID:0050960", source="Orphanet:98761/e", source="MONDO:equivalentTo", source="Orphanet:98761"} xref: Orphanet:98761 {source="MONDO:equivalentTo", source="OMIM:603516"} xref: SCTID:715754007 {source="MONDO:equivalentTo"} xref: UMLS:C1963674 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:603516", source="Orphanet:98761"} xref: UMLS:C4275023 {source="MONDO:equivalentObsolete"} is_a: MONDO:0019794 {source="Orphanet:98761"} ! autosomal dominant cerebellar ataxia type IV property_value: exactMatch DOID:0050960 property_value: exactMatch http://identifiers.org/mesh/C566874 property_value: exactMatch http://identifiers.org/snomedct/715754007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1963674 property_value: exactMatch https://omim.org/entry/603516 property_value: exactMatch Orphanet:98761 [Term] id: MONDO:0011334 name: limb-mammary syndrome def: "Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias." [Orphanet:69085] subset: ordo_malformation_syndrome {source="Orphanet:69085"} synonym: "limb-mammary syndrome" EXACT [MONDO:Lexical, OMIM:603543] synonym: "LMS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:603543, Orphanet:69085] synonym: "mammary hypoplasia, ectrodactyly, and other hand/foot anomalies" RELATED [GARD:0010051] xref: MESH:C535903 {source="MONDO:equivalentTo", source="Orphanet:69085", source="Orphanet:69085/e"} xref: OMIM:603543 {source="MONDO:equivalentTo", source="Orphanet:69085", source="Orphanet:69085/e"} xref: Orphanet:69085 {source="OMIM:603543", source="MONDO:equivalentTo"} xref: SCTID:721972001 {source="MONDO:equivalentTo"} is_a: MONDO:0015853 {source="Orphanet:69085"} ! deficient breast volume or number is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation is_a: MONDO:0020197 {source="Orphanet:69085"} ! EEC syndrome and related syndrome is_a: MONDO:0800090 {source="PMID:31633310"} ! ectrodactyly with and without other manifestations property_value: exactMatch http://identifiers.org/mesh/C535903 property_value: exactMatch http://identifiers.org/snomedct/721972001 property_value: exactMatch https://omim.org/entry/603543 property_value: exactMatch Orphanet:69085 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0011335 name: spondyloepimetaphyseal dysplasia with multiple dislocations def: "A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity." [NCIT:C125419] subset: gard_rare {source="GARD:0009866"} subset: ordo_disease {source="Orphanet:93360"} synonym: "SEMD-MD" EXACT [DOID:0112199, Orphanet:93360] synonym: "SEMDJL2" EXACT ABBREVIATION [DOID:0112199, MONDO:Lexical, OMIM:603546, Orphanet:93360] synonym: "spondyloepimetaphyseal dysplasia with joint laxicity, Hall type" EXACT [DOID:0112199, Orphanet:93360] synonym: "spondyloepimetaphyseal dysplasia with JOINT laxity type 2" RELATED [MONDO:Lexical, OMIM:603546] synonym: "spondyloepimetaphyseal dysplasia with joint laxity type 2" EXACT [DOID:0112199, Orphanet:93360] synonym: "spondyloepimetaphyseal dysplasia with Joint laxity, Hall type" RELATED [OMIM:603546] synonym: "spondyloepimetaphyseal dysplasia with Joint laxity, leptodactylic type" RELATED [OMIM:603546] synonym: "spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type" EXACT [DOID:0112199, Orphanet:93360] synonym: "spondyloepimetaphyseal dysplasia with JOINT laxity, type 2" RELATED [OMIM:603546] synonym: "spondyloepimetaphyseal dysplasia with Joint laxity, type 2" RELATED [OMIM:603546] synonym: "spondyloepimetaphyseal dysplasia with multiple dislocations Hall type" RELATED [GARD:0009866] synonym: "spondyloepimetaphyseal dysplasia with multiple dislocations leptodactylic type" RELATED [GARD:0009866] synonym: "spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type" EXACT [DOID:0112199, OMIM:603546, Orphanet:93360] xref: DOID:0112199 {source="MONDO:equivalentTo"} xref: MESH:C535784 {source="Orphanet:93360/e", source="MONDO:equivalentTo", source="Orphanet:93360"} xref: NCIT:C125419 {source="MONDO:equivalentTo"} xref: OMIM:603546 {source="Orphanet:93360/e", source="MONDO:equivalentTo", source="DOID:0112199", source="Orphanet:93360"} xref: Orphanet:93360 {source="OMIM:603546", source="MONDO:equivalentTo", source="DOID:0112199"} xref: SCTID:766820007 {source="MONDO:equivalentTo"} xref: UMLS:C1863732 {source="OMIM:603546", source="Orphanet:93360/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:93360"} is_a: MONDO:0000426 {source="DOID:0112199"} ! autosomal dominant disease is_a: MONDO:0019675 {source="DC-OMIM:603546"} ! spondyloepimetaphyseal dysplasia with joint laxity is_a: MONDO:0800086 {source="PMID:31633310"} ! primary bone dysplasia with multiple joint dislocations property_value: exactMatch DOID:0112199 property_value: exactMatch http://identifiers.org/mesh/C535784 property_value: exactMatch http://identifiers.org/snomedct/766820007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863732 property_value: exactMatch https://omim.org/entry/603546 property_value: exactMatch NCIT:C125419 property_value: exactMatch Orphanet:93360 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9866/spondyloepimetaphyseal-dysplasia-with-multiple-dislocations xsd:anyURI {source="GARD:0009866"} [Term] id: MONDO:0011338 name: Omenn syndrome def: "An inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID)." [Orphanet:39041] subset: gard_rare {source="GARD:0008198"} subset: ordo_disease {source="Orphanet:39041"} synonym: "combined immunodeficiency with hypereosinophilia" EXACT [DOID:0060010, Orphanet:39041] synonym: "Omenn syndrome" EXACT [OMIM:603554] synonym: "reticuloendotheliosis familial with eosinophilia" RELATED [GARD:0008198] synonym: "reticuloendotheliosis, familial, with eosinophilia" RELATED [OMIM:603554] synonym: "severe combined immunodeficiency with hypereosinophilia" RELATED [OMIM:603554] xref: DOID:0060010 {source="MONDO:equivalentTo"} xref: MedDRA:10069097 {source="Orphanet:39041", source="Orphanet:39041/e"} xref: NCIT:C61240 {source="MONDO:equivalentTo"} xref: OMIM:603554 {source="DOID:0060010", source="Orphanet:39041", source="MONDO:equivalentTo", source="Orphanet:39041/e"} xref: Orphanet:39041 {source="OMIM:603554", source="MONDO:equivalentTo"} xref: SCTID:722067005 {source="MONDO:equivalentTo"} xref: UMLS:C1801959 {source="OMIM:603554", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C61240"} is_a: MONDO:0017855 {source="PMID:31953710"} ! T-B- severe combined immunodeficiency is_a: MONDO:0031520 {source="OMIM:603554"} ! familial severe combined immunodeficiency property_value: closeMatch http://identifiers.org/meddra/10069097 property_value: exactMatch DOID:0060010 property_value: exactMatch http://identifiers.org/snomedct/722067005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1801959 property_value: exactMatch https://omim.org/entry/603554 property_value: exactMatch NCIT:C61240 property_value: exactMatch Orphanet:39041 property_value: excluded_subClassOf MONDO:0018814 {source="Orphanet:39041", source="https://github.com/monarch-initiative/mondo-build/issues/108"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8198/omenn-syndrome xsd:anyURI {source="GARD:0008198"} [Term] id: MONDO:0011339 name: hereditary spastic paraplegia 8 def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the WASHC5 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:100989"} synonym: "autosomal dominant spastic paraplegia 8" EXACT [DOID:0110823] synonym: "autosomal dominant spastic paraplegia type 8" EXACT [DOID:0110823] synonym: "hereditary spastic paraplegia caused by mutation in WASHC5" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 8" EXACT [DOID:0110823, MONDORULE:1] synonym: "spastic paraplegia 8" RELATED [GARD:0009591] synonym: "spastic paraplegia 8, autosomal dominant" RELATED [MONDO:Lexical, OMIM:603563] synonym: "SPG8" EXACT ABBREVIATION [DOID:0110823, MONDO:Lexical, OMIM:603563, Orphanet:100989] synonym: "WASHC5 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110823 {source="MONDO:equivalentTo"} xref: MESH:C580458 {source="MONDO:equivalentTo"} xref: OMIM:603563 {source="Orphanet:100989/e", source="DOID:0110823", source="MONDO:equivalentTo", source="Orphanet:100989"} xref: Orphanet:100989 {source="OMIM:603563", source="DOID:0110823", source="MONDO:equivalentTo"} xref: UMLS:C1863704 {source="Orphanet:100989/e", source="OMIM:603563", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:100989"} is_a: MONDO:0015088 {source="Orphanet:100989"} ! autosomal dominant pure spastic paraplegia property_value: exactMatch DOID:0110823 property_value: exactMatch http://identifiers.org/mesh/C580458 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863704 property_value: exactMatch https://omim.org/entry/603563 property_value: exactMatch Orphanet:100989 [Term] id: MONDO:0011340 name: congenital tracheal stenosis subset: gard_rare {source="GARD:0012008"} subset: ordo_morphological_anomaly {source="Orphanet:141127"} synonym: "tracheobronchial stenosis, congenital" RELATED [OMIM:603569] xref: ICD9:748.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C566362 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/1839"} xref: OMIM:603569 {source="Orphanet:141127/e", source="MONDO:equivalentTo", source="Orphanet:141127"} xref: Orphanet:141127 {source="MONDO:equivalentTo", source="OMIM:603569"} xref: SCTID:9660004 {source="MONDO:equivalentTo"} is_a: MONDO:0015505 {source="Orphanet:141127"} ! tracheal anomaly is_a: MONDO:0018562 {source="Orphanet:141127", source="Orphanet:141127/inferred"} ! hereditary otorhinolaryngological malformation relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch http://identifiers.org/mesh/C566362 property_value: exactMatch http://identifiers.org/snomedct/9660004 property_value: exactMatch https://omim.org/entry/603569 property_value: exactMatch Orphanet:141127 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12008/congenital-tracheal-stenosis xsd:anyURI {source="GARD:0012008"} [Term] id: MONDO:0011342 name: SLC35A1-congenital disorder of glycosylation def: "SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage." [Orphanet:238459] subset: ordo_disease {source="Orphanet:238459"} synonym: "carbohydrate deficient glycoprotein syndrome type IIf" EXACT [Orphanet:238459] synonym: "CDG IIf" RELATED [OMIM:603585] synonym: "CDG syndrome type IIf" EXACT [Orphanet:238459] synonym: "CDG-IIf" EXACT [Orphanet:238459] synonym: "CDG2F" EXACT ABBREVIATION [MONDO:Lexical, OMIM:603585, Orphanet:238459] synonym: "CMP-sialic acid transporter deficiency" EXACT [Orphanet:238459] synonym: "congenital disorder of glycosylation type 2f" EXACT [Orphanet:238459] synonym: "congenital disorder of glycosylation type IIf" EXACT [Orphanet:238459] synonym: "congenital disorder of glycosylation, type IIf" RELATED [MONDO:Lexical, OMIM:603585] synonym: "SLC35A1-CDG" EXACT ABBREVIATION [Orphanet:356961] synonym: "SLC35A1-CDG (CDG-IIf)" RELATED [GARD:0012409] synonym: "SLC35A1-congenital disorder of glycosylation" EXACT [] xref: DOID:0070258 {source="MONDO:equivalentTo"} xref: MESH:C567040 {source="MONDO:equivalentTo"} xref: OMIM:603585 {source="Orphanet:238459", source="MONDO:equivalentTo", source="Orphanet:238459/e"} xref: Orphanet:238459 {source="OMIM:603585", source="MONDO:equivalentTo"} xref: SCTID:723624008 {source="MONDO:equivalentTo"} xref: UMLS:C1970344 {source="OMIM:603585", source="Orphanet:238459", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0005546 {source="DC-OMIM:603585", source="OMIM:603585"} ! congenital disorder of glycosylation type II is_a: MONDO:0017749 {source="Orphanet:238459"} ! disorder of multiple glycosylation property_value: exactMatch DOID:0070258 property_value: exactMatch http://identifiers.org/mesh/C567040 property_value: exactMatch http://identifiers.org/snomedct/723624008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970344 property_value: exactMatch https://omim.org/entry/603585 property_value: exactMatch Orphanet:238459 property_value: excluded_subClassOf MONDO:0019743 {source="MONDO:0018294-obsoleted"} [Term] id: MONDO:0011346 name: xanthinuria type II def: "Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic." [Orphanet:93602] subset: gard_rare {source="GARD:0005620"} subset: ordo_etiological_subtype {source="Orphanet:93602"} synonym: "type 2 xanthinuria" RELATED [GARD:0005620] synonym: "type II xanthinuria" RELATED [GARD:0005620] synonym: "XAN2" EXACT ABBREVIATION [MESH:C566358] synonym: "xanthine dehydrogenase and aldehyde oxidase combined deficiency of" RELATED [GARD:0005620] synonym: "xanthine dehydrogenase and aldehyde oxidase, combined deficiency of" EXACT [MESH:C566358, OMIM:603592] synonym: "xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency" EXACT [Orphanet:93602] synonym: "xanthinuria type 2" RELATED [GARD:0005620] synonym: "xanthinuria, type 2" RELATED [OMIM:603592] synonym: "xanthinuria, type II" RELATED [OMIM:603592] synonym: "XDH and AOX dual deficiency" EXACT [Orphanet:93602] xref: MESH:C566358 {source="MONDO:equivalentTo"} xref: OMIM:603592 {source="Orphanet:93602/e", source="MONDO:equivalentTo", source="Orphanet:93602"} xref: Orphanet:93602 {source="MONDO:equivalentTo", source="OMIM:603592"} xref: UMLS:C1863688 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:93602", source="OMIM:603592"} is_a: MONDO:0018106 {source="MONDO:Redundant", source="OMIM:603592", source="Orphanet:93602"} ! hereditary xanthinuria property_value: exactMatch http://identifiers.org/mesh/C566358 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863688 property_value: exactMatch https://omim.org/entry/603592 property_value: exactMatch Orphanet:93602 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5620/xanthinuria-type-2 xsd:anyURI {source="GARD:0005620"} [Term] id: MONDO:0011348 name: non-syndromic polydactyly def: "A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits." [MESH:D017689] comment: Editor note: Orphanet calls this Polydactyly, but this is implicitly the non-syndromic form due to placement in the ORDO hierarchy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:2913"} synonym: "Extra digits" RELATED [GARD:0004410] synonym: "isolated polydactyly" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "isolated polydactyly (disease)" EXACT [] synonym: "nonsyndromic polydactyly" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "nonsyndromic polydactyly (disease)" EXACT [MONDO:patterns/isolated] synonym: "polydactylia" RELATED [GARD:0004410] synonym: "supernumerary digits" RELATED [GARD:0004410] xref: MedDRA:10036063 {source="Orphanet:2913/e"} xref: Orphanet:2913 {source="OMIM:603596", source="MONDO:equivalentTo"} is_a: MONDO:0019714 {source="Orphanet:2913"} ! non-syndromic polydactyly, syndactyly and/or hyperphalangy is_a: MONDO:0021003 {source="MONDO:Redundant", source="MONDO:cjm"} ! polydactyly intersection_of: MONDO:0021003 ! polydactyly intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation relationship: has_characteristic MONDO:0021128 ! has an isolated presentation property_value: closeMatch http://identifiers.org/meddra/10036063 property_value: exactMatch Orphanet:2913 [Term] id: MONDO:0011359 name: acromelic frontonasal dysostosis def: "Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism." [Orphanet:1827] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1827"} synonym: "acromelic frontonasal dysostosis" EXACT [MONDO:Lexical, OMIM:603671, Orphanet:1827] synonym: "acromelic frontonasal dysplasia" RELATED [Orphanet:1827] synonym: "AFND" EXACT ABBREVIATION [MONDO:Lexical, OMIM:603671, Orphanet:1827] synonym: "frontonasal dysplasia acromelic" RELATED [GARD:0002393] synonym: "Toriello syndrome" EXACT [Orphanet:1827] xref: DOID:0060342 {source="MONDO:equivalentTo"} xref: MESH:C566345 {source="MONDO:equivalentTo"} xref: OMIM:603671 {source="DOID:0060342", source="Orphanet:1827/e", source="MONDO:equivalentTo", source="Orphanet:1827"} xref: Orphanet:1827 {source="MONDO:equivalentTo", source="OMIM:603671"} xref: SCTID:715427008 {source="MONDO:equivalentTo"} xref: UMLS:C1863616 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:603671"} is_a: MONDO:0016643 {source="Orphanet:1827"} ! frontonasal dysplasia is_a: MONDO:0018237 {source="Orphanet:1827"} ! acrofacial dysostosis is_a: MONDO:0800085 {source="PMID:31633310"} ! dysostosis with predominant craniofacial involvement property_value: exactMatch DOID:0060342 property_value: exactMatch http://identifiers.org/mesh/C566345 property_value: exactMatch http://identifiers.org/snomedct/715427008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863616 property_value: exactMatch https://omim.org/entry/603671 property_value: exactMatch Orphanet:1827 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2393/frontonasal-dysplasia-acromelic xsd:anyURI {source="GARD:0002393"} [Term] id: MONDO:0011362 name: myopathy, myofibrillar, 9, with early respiratory failure subset: gard_rare {source="GARD:0012591"} subset: ordo_disease {source="Orphanet:178464"} synonym: "ADMERF" EXACT ABBREVIATION [Orphanet:178464] synonym: "distal myopathy with early respiratory muscle involvement" EXACT [MONDO:0011859] synonym: "Edstrom myopathy" EXACT [OMIM:603689] synonym: "Edström myopathy" EXACT [Orphanet:178464] synonym: "hereditary inclusion body myopathy with early respiratory failure" EXACT [Orphanet:178464] synonym: "hereditary proximal myopathy with early respiratory failure" EXACT [OMIM:603689] synonym: "HIBM-ERF" EXACT [Orphanet:178464] synonym: "HMERF" EXACT ABBREVIATION [MONDO:Lexical, OMIM:603689, Orphanet:178464] synonym: "HMERF-ERF" EXACT [GARD:0012591] synonym: "myofibrillar myopathy with early respiratory failure" EXACT [Orphanet:178464] synonym: "myopathy, distal, with early respiratory failure, autosomal dominant" EXACT [OMIM:607569] synonym: "myopathy, proximal, with early respiratory muscle involvement" EXACT [OMIM:603689] xref: DOID:0111188 {source="MONDO:equivalentTo"} xref: MESH:C564377 {source="MONDO:equivalentTo"} xref: MESH:C566343 {source="MONDO:equivalentTo"} xref: OMIM:603689 {source="Orphanet:178464", source="MONDO:equivalentTo", source="Orphanet:178464/e"} xref: OMIM:607569 {source="MONDO:equivalentObsolete", source="Orphanet:34521/e", source="Orphanet:34521"} xref: Orphanet:178464 {source="OMIM:603689", source="MONDO:equivalentTo"} xref: Orphanet:34521 {source="OMIM:607569", source="MONDO:equivalentObsolete"} xref: SCTID:702373006 {source="MONDO:equivalentTo"} xref: SCTID:733490006 {source="MONDO:equivalentObsolete"} xref: UMLS:C1843633 {source="OMIM:607569", source="MONDO:equivalentObsolete", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:34521"} xref: UMLS:C1863599 {source="Orphanet:178464", source="OMIM:603689", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4518808 {source="MONDO:equivalentTo"} is_a: MONDO:0016106 {source="Orphanet:178464"} ! progressive muscular dystrophy is_a: MONDO:0016108 {source="Orphanet:34521"} ! autosomal dominant distal myopathy is_a: MONDO:0016112 {source="Orphanet:178464"} ! hereditary inclusion-body myopathy is_a: MONDO:0100494 {source="https://clinicalgenome.org/affiliation/40031/"} ! autosomal dominant titinopathy property_value: exactMatch DOID:0111188 property_value: exactMatch http://identifiers.org/mesh/C564377 property_value: exactMatch http://identifiers.org/mesh/C566343 property_value: exactMatch http://identifiers.org/snomedct/702373006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863599 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518808 property_value: exactMatch https://omim.org/entry/603689 property_value: exactMatch Orphanet:178464 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12591/hereditary-proximal-myopathy-with-early-respiratory-failure xsd:anyURI {source="GARD:0012591"} [Term] id: MONDO:0011365 name: blepharophimosis - intellectual disability syndrome, SBBYS type def: "Blepharophimosis-intellectual disability syndrome, SBBYS type is characterized by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested." [Orphanet:3047] subset: ordo_malformation_syndrome {source="Orphanet:3047"} synonym: "blepharophimosis - intellectual disability syndrome, SBBYS type" EXACT [] synonym: "hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome" EXACT [Orphanet:3047] synonym: "Ohdo syndrome, SBBYS variant" EXACT [DOID:0060290, MONDO:Lexical, OMIM:603736] synonym: "Say-Barber-Biesecker-Young-Simpson syndrome" EXACT [DOID:0060290, OMIM:603736, Orphanet:3047] synonym: "SBBYSS" EXACT ABBREVIATION [DOID:0060290, MONDO:Lexical, OMIM:603736, Orphanet:3047] synonym: "SBBYSS syndrome" EXACT [OMIM:603736, OMIM:genemap2] synonym: "Young-Simpson syndrome" RELATED [OMIM:603736] xref: DOID:0060290 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536717 {source="MONDO:equivalentTo", source="DOID:0060290"} xref: OMIM:603736 {source="Orphanet:3047", source="MONDO:equivalentTo", source="Orphanet:3047/e", source="DOID:0060290"} xref: Orphanet:3047 {source="MONDO:equivalentTo", source="OMIM:603736", source="DOID:0060290"} xref: SCTID:699298009 {source="MONDO:equivalentTo", source="DOID:0060290"} is_a: MONDO:0000734 {source="DC-OMIM:603736", source="DOID:0060290"} ! Ohdo syndrome and variants is_a: MONDO:0015778 {source="Orphanet:3047"} ! syndromic hypothyroidism property_value: exactMatch DOID:0060290 property_value: exactMatch http://identifiers.org/mesh/C536717 property_value: exactMatch http://identifiers.org/snomedct/699298009 property_value: exactMatch https://omim.org/entry/603736 property_value: exactMatch Orphanet:3047 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011369 name: hypercholesterolemia, autosomal dominant, 3 def: "Any familial hypercholesterolemia in which the cause of the disease is a mutation in the PCSK9 gene." [MONDO:patterns/disease_series_by_gene] subset: clingen synonym: "familial hypercholesterolemia caused by mutation in PCSK9" EXACT [MONDO:design_pattern] synonym: "Fh3" RELATED [OMIM:603776] synonym: "HCHOLA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:603776] synonym: "hypercholesterolemia, autosomal dominant, 3" EXACT [MONDO:Lexical, OMIM:603776] synonym: "hypercholesterolemia, autosomal dominant, type 3" EXACT [MONDORULE:1, OMIM:603776] synonym: "hypercholesterolemia, familial, 3" EXACT [OMIM:603776, OMIM:genemap2] synonym: "low density lipoprotein cholesterol level QTL 1" EXACT [OMIM:603776, OMIM:genemap2] synonym: "low density lipoprotein cholesterol level quantitative trait locus 1" RELATED [OMIM:603776] synonym: "PCSK9 familial hypercholesterolemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MESH:C566337 {source="MONDO:equivalentTo"} xref: OMIM:603776 {source="MONDO:equivalentTo"} xref: UMLS:C1863551 {source="OMIM:603776", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0004911 {source="DC-OMIM:603776", source="MONDO:Redundant"} ! familial hypercholesterolemia property_value: exactMatch http://identifiers.org/mesh/C566337 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863551 property_value: exactMatch https://omim.org/entry/603776 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011376 name: ventricular fibrillation, paroxysmal familial, type 1 subset: ordo_disease {source="Orphanet:228140"} synonym: "IVF" RELATED ABBREVIATION [OMIM:603829] synonym: "ventricular fibrillation during myocardial infarction, susceptibility to" RELATED [OMIM:603829] synonym: "ventricular fibrillation, familial, 1" EXACT [OMIM:603829, OMIM:genemap2] synonym: "ventricular fibrillation, paroxysmal familial, 1" EXACT [MONDO:Lexical, OMIM:603829] synonym: "ventricular fibrillation, paroxysmal familial, type 1" EXACT [MONDORULE:1, OMIM:603829] synonym: "VF1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:603829] xref: MESH:C567851 {source="MONDO:equivalentTo"} xref: OMIM:603829 {source="MONDO:equivalentTo", source="Orphanet:228140", source="Orphanet:228140/e"} xref: SCTID:233915000 {source="MONDO:equivalentTo"} xref: UMLS:C2751898 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:603829"} is_a: MONDO:0100234 {source="DC-OMIM:603829", source="MESH:C567851"} ! paroxysmal familial ventricular fibrillation property_value: exactMatch http://identifiers.org/mesh/C567851 property_value: exactMatch http://identifiers.org/snomedct/233915000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751898 property_value: exactMatch https://omim.org/entry/603829 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011377 name: long QT syndrome 3 def: "An autosomal dominant condition caused by mutation(s) in the SCN5A gene, encoding sodium channel protein type 5 subunit alpha. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death." [NCIT:C137959] subset: gard_rare {source="GARD:0003286"} synonym: "long QT syndrome 2/3, digenic" RELATED [OMIM:603830] synonym: "long QT syndrome 3" EXACT [MONDO:Lexical, OMIM:603830] synonym: "long QT syndrome 3, acquired, susceptibility to" RELATED [OMIM:603830] synonym: "long QT syndrome 3/6, digenic" RELATED [OMIM:603830] synonym: "long QT syndrome caused by mutation in SCN5A" EXACT [MONDO:design_pattern] synonym: "long QT syndrome type 3" EXACT [DOID:0110646, MONDORULE:1, OMIM:603830] synonym: "LQT3" EXACT ABBREVIATION [DOID:0110646, MONDO:Lexical, OMIM:603830] synonym: "SCN5A long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110646 {source="MONDO:equivalentTo"} xref: MESH:C565840 {source="MONDO:equivalentTo"} xref: NCIT:C137959 {source="MONDO:equivalentTo"} xref: OMIM:603830 {source="DOID:0110646", source="MONDO:equivalentTo"} xref: Orphanet:101016 {source="OMIM:603830", source="MONDO:directSiblingOf"} xref: UMLS:C1859062 {source="OMIM:603830", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C2931401 {source="MONDO:equivalentTo"} is_a: MONDO:0019171 {source="OMIM:603830", source="Orphanet:101016-prototype"} ! familial long QT syndrome property_value: exactMatch DOID:0110646 property_value: exactMatch http://identifiers.org/mesh/C565840 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859062 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931401 property_value: exactMatch https://omim.org/entry/603830 property_value: exactMatch NCIT:C137959 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3286/long-qt-syndrome-3 xsd:anyURI {source="GARD:0003286"} [Term] id: MONDO:0011380 name: obsolete leukoencephalopathy with vanishing white matter property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6216 xsd:anyURI is_obsolete: true replaced_by: MONDO:0800448 [Term] id: MONDO:0011381 name: dominant beta-thalassemia def: "Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia." [Orphanet:231226] subset: ordo_clinical_subtype {source="Orphanet:231226"} synonym: "beta-thalassemia, dominant inclusion body type" RELATED [OMIM:603902] synonym: "dyserythropoietic Anemia, congenital, Irish or Weatherall type" RELATED [OMIM:603902] synonym: "inclusion body beta-thalassemia" EXACT [Orphanet:231226] synonym: "thalassemia-beta, dominant inclusion-body" EXACT [OMIM:603902] xref: DOID:0080770 {source="MONDO:equivalentTo"} xref: MESH:C565834 {source="MONDO:equivalentTo"} xref: OMIM:603902 {source="MONDO:equivalentTo", source="Orphanet:231226", source="Orphanet:231226/e"} xref: Orphanet:231226 {source="MONDO:equivalentTo", source="OMIM:603902"} xref: SCTID:716682000 {source="MONDO:equivalentTo"} xref: UMLS:C1858990 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:603902", source="Orphanet:231226"} xref: UMLS:C4274391 {source="MONDO:equivalentTo"} is_a: MONDO:0019402 {source="DC-OMIM:603902", source="MESH:C565834", source="Orphanet:231226"} ! beta thalassemia property_value: exactMatch DOID:0080770 property_value: exactMatch http://identifiers.org/mesh/C565834 property_value: exactMatch http://identifiers.org/snomedct/716682000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858990 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274391 property_value: exactMatch https://omim.org/entry/603902 property_value: exactMatch Orphanet:231226 [Term] id: MONDO:0011382 name: sickle cell anemia def: "Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur." [Orphanet:232] subset: ordo_disease {source="Orphanet:232"} synonym: "drepanocytosis" EXACT [DOID:10923] synonym: "Haemoglobin S disease" RELATED OMO:0003005 [] synonym: "Haemoglobin S disease without crisis" EXACT OMO:0003005 [] synonym: "haemoglobin SC disease" EXACT OMO:0003005 [] synonym: "Hb SC disease" EXACT [DOID:10923] synonym: "Hb-S/Hb-C disease" EXACT [DOID:10923] synonym: "Hb-SS disease without crisis" EXACT [DOID:10923] synonym: "HbS disease" RELATED [GARD:0008614] synonym: "Hemoglobin S disease" RELATED [GARD:0008614] synonym: "Hemoglobin S disease without crisis" EXACT [DOID:10923] synonym: "hemoglobin SC disease" EXACT [DOID:10923] synonym: "sickle cell anemia" EXACT [OMIM:603903] synonym: "sickle cell disease" EXACT [Orphanet:232] synonym: "sickle-cell/Hb-C disease without crisis" EXACT [DOID:10923, ICD9CM:282.63] synonym: "sickling disorder due to Haemoglobin S" EXACT OMO:0003005 [] synonym: "sickling disorder due to Hemoglobin S" EXACT [NCIT:C34383] xref: DOID:10923 {source="MONDO:equivalentTo"} xref: EFO:1001797 {source="MONDO:equivalentTo"} xref: ICD9:282.6 {source="DOID:10923"} xref: ICD9:282.60 {source="DOID:10923"} xref: ICD9:282.63 {source="DOID:10923"} xref: MedDRA:10040641 {source="Orphanet:232/e", source="Orphanet:232"} xref: MESH:D000755 {source="Orphanet:232/e", source="MONDO:equivalentTo", source="DOID:10923", source="Orphanet:232"} xref: NCIT:C34383 {source="MONDO:equivalentTo", source="DOID:10923"} xref: OMIM:603903 {source="Orphanet:232/e", source="MONDO:equivalentTo", source="DOID:10923", source="Orphanet:232"} xref: Orphanet:232 {source="MONDO:equivalentTo", source="OMIM:603903"} xref: UMLS:C0002895 {source="NCIT:C34383", source="Orphanet:232/e", source="MONDO:equivalentTo", source="DOID:10923", source="MONDO:ncbi_mim2gene_medline", source="OMIM:603903", source="Orphanet:232"} xref: UMLS:C0019034 {source="MONDO:relatedTo", source="DOID:10923"} is_a: EFO:1000017 {source="DOID:10923", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0017146 {source="EFO:1001797", source="Orphanet:232"} ! sickle cell disease and related diseases property_value: closeMatch http://identifiers.org/meddra/10040641 property_value: exactMatch DOID:10923 property_value: exactMatch http://identifiers.org/mesh/D000755 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002895 property_value: exactMatch https://omim.org/entry/603903 property_value: exactMatch NCIT:C34383 property_value: exactMatch Orphanet:232 property_value: excluded_subClassOf MONDO:0015770 {source="MONDO:0015890-obsoleted"} property_value: excluded_subClassOf MONDO:0018374 {source="MONDO:0018377-obsoleted"} property_value: excluded_subClassOf MONDO:0018384 {source="MONDO:0018377-obsoleted"} [Term] id: MONDO:0011383 name: autoimmune lymphoproliferative syndrome type 2A def: "A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but incomplete penetrance. It is caused by a mutation in the CASP10 (caspase-10) gene that leads to defective Fas-induced apoptosis. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma." [NCIT:C39576] synonym: "ALPS-CASP10" EXACT [NCIT:C39576] synonym: "ALPS2A" EXACT ABBREVIATION [DOID:0110115, MONDO:Lexical, OMIM:603909] synonym: "autoimmune lymphoproliferative syndrome caused by mutation in CASP10" EXACT [MONDO:design_pattern] synonym: "autoimmune lymphoproliferative syndrome type IIA" EXACT [DOID:0110115] synonym: "autoimmune lymphoproliferative syndrome, type 2" RELATED [OMIM:603909] synonym: "autoimmune lymphoproliferative syndrome, type 2A" RELATED [OMIM:603909] synonym: "autoimmune lymphoproliferative syndrome, type II" EXACT [OMIM:603909, OMIM:genemap2] synonym: "autoimmune lymphoproliferative syndrome, type IIA" RELATED [MONDO:Lexical, OMIM:603909] synonym: "autoimmune lymphoproliferative syndrome-CASP10 variant" EXACT [NCIT:C39576] synonym: "CASP10 autoimmune lymphoproliferative syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "type 2 ALPS" EXACT [NCIT:C39576] synonym: "type 2 autoimmune lymphoproliferative syndrome" EXACT [NCIT:C39576] xref: DOID:0110115 {source="MONDO:equivalentTo"} xref: MESH:C565833 {source="MONDO:equivalentTo"} xref: NCIT:C39576 {source="MONDO:equivalentTo"} xref: OMIM:603909 {source="DOID:0110115", source="MONDO:equivalentTo"} xref: UMLS:C1519709 {source="NCIT:C39576", source="MONDO:equivalentTo"} xref: UMLS:C1858968 {source="OMIM:603909", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0017979 {source="DC-OMIM:603909", source="DOID:0110115", source="MESH:C565833", source="MONDO:Redundant", source="NCIT:C39576"} ! autoimmune lymphoproliferative syndrome property_value: exactMatch DOID:0110115 property_value: exactMatch http://identifiers.org/mesh/C565833 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519709 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858968 property_value: exactMatch https://omim.org/entry/603909 property_value: exactMatch NCIT:C39576 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011391 name: megalencephalic leukoencephalopathy with subcortical cysts def: "Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions." [Orphanet:2478] subset: gard_rare {source="GARD:0003445"} subset: ordo_disease {source="Orphanet:2478"} synonym: "megalencephalic leukodystrophy" EXACT [Orphanet:2478] synonym: "megalencephalic leukoencephalopathy with subcortical cysts 1" RELATED [MONDO:Lexical, OMIM:604004] synonym: "megalencephalic leukoencephalopathy with subcortical cysts type 1" EXACT [MONDORULE:1, OMIM:604004] synonym: "megalencephaly-cystic leukodystrophy" RELATED [GARD:0003445] synonym: "megalencephaly-cystic leukodystrophy syndrome" EXACT [Orphanet:2478] synonym: "MLC" EXACT ABBREVIATION [Orphanet:2478] synonym: "MLC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604004] synonym: "Vacuolating megalencephalic leukoencephalopathy with subcortical cysts" EXACT [Orphanet:2478] synonym: "Van der Knaap syndrome" EXACT [Orphanet:2478] xref: DOID:0080315 {source="MONDO:equivalentTo"} xref: MESH:C536141 {source="MONDO:equivalentTo"} xref: Orphanet:2478 {source="OMIM:604004", source="MONDO:equivalentTo"} xref: SCTID:703536004 {source="MONDO:equivalentTo"} xref: UMLS:CN176898 {source="MONDO:equivalentTo"} is_a: MONDO:0000137 {source="DC-OMIM:604004", source="OMIM:604004"} ! leukoencephalopathy, megalencephalic is_a: MONDO:0019046 {source="Orphanet:2478"} ! leukodystrophy property_value: exactMatch DOID:0080315 property_value: exactMatch http://identifiers.org/mesh/C536141 property_value: exactMatch http://identifiers.org/snomedct/703536004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN176898 property_value: exactMatch Orphanet:2478 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3445/megalencephalic-leukoencephalopathy-with-subcortical-cysts xsd:anyURI {source="GARD:0003445"} [Term] id: MONDO:0011393 name: hypoalphalipoproteinemia, primary, 1 def: "Any ypoalphalipoproteinemia in which the cause of the disease is a mutation in the ABCA1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "familial HDL deficiency" RELATED [GARD:0002872, OMIM:604091] synonym: "FHA" RELATED ABBREVIATION [GARD:0002872] synonym: "FHD" RELATED ABBREVIATION [GARD:0002872] synonym: "HDL cholesterol, Low serum" RELATED [OMIM:604091] synonym: "HDL deficiency, familial, 1" EXACT [OMIM:604091, OMIM:genemap2] synonym: "HDLD" RELATED ABBREVIATION [GARD:0002872] synonym: "high density lipoprotein deficiency" RELATED [OMIM:604091] synonym: "hypoalphalipoproteinemia, familial" EXACT [OMIM:604091] synonym: "hypoalphalipoproteinemia, primary" RELATED [OMIM:604091] xref: DOID:0080957 {source="MONDO:equivalentTo"} xref: OMIM:604091 {source="MONDO:equivalentTo"} is_a: MONDO:0100189 {source="Orphanet:425"} ! apolipoprotein A-I deficiency property_value: exactMatch DOID:0080957 property_value: exactMatch https://omim.org/entry/604091 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011396 name: loricrin keratoderma def: "A diffuse palmoplantar keratoderma, characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission." [Orphanet:79395] subset: ordo_disease {source="Orphanet:79395"} synonym: "Camisa disease" EXACT [Orphanet:79395] synonym: "keratoderma hereditarium mutilans with ichthyosis" EXACT [Orphanet:79395] synonym: "keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome" EXACT [Orphanet:79395] synonym: "loricrin keratoderma" EXACT [OMIM:604117, Orphanet:79395] synonym: "mutilating keratoderma with ichthyosis" RELATED [OMIM:604117] synonym: "Vohwinkel syndrome with ichthyosis" EXACT [OMIM:604117, Orphanet:79395] synonym: "Vohwinkel syndrome, variant form" RELATED [OMIM:604117] xref: MESH:C565826 {source="MONDO:equivalentTo"} xref: OMIM:604117 {source="MONDO:equivalentTo", source="Orphanet:79395", source="Orphanet:79395/e"} xref: Orphanet:79395 {source="OMIM:604117", source="MONDO:equivalentTo"} xref: SCTID:717183001 {source="MONDO:equivalentTo"} xref: UMLS:C1858805 {source="OMIM:604117", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:79395"} is_a: MONDO:0017262 {source="Orphanet:79395", source="PMID:20643494"} ! inherited non-syndromic ichthyosis is_a: MONDO:0017667 ! isolated diffuse palmoplantar keratoderma is_a: MONDO:0017670 {source="Orphanet:79395"} ! autosomal dominant diffuse mutilating palmoplantar keratoderma property_value: exactMatch http://identifiers.org/mesh/C565826 property_value: exactMatch http://identifiers.org/snomedct/717183001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858805 property_value: exactMatch https://omim.org/entry/604117 property_value: exactMatch Orphanet:79395 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2114 xsd:anyURI [Term] id: MONDO:0011397 name: autosomal dominant cerebellar ataxia, deafness and narcolepsy def: "Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." [Orphanet:314404] subset: gard_rare {source="GARD:0012372"} subset: ordo_disease {source="Orphanet:314404"} synonym: "ADCA-DN" RELATED [GARD:0012372] synonym: "ADCA-DN syndrome" EXACT [Orphanet:314404] synonym: "ADCADN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604121] synonym: "autosomal dominant cerebellar ataxia, deafness and narcolepsy" EXACT [] synonym: "autosomal dominant cerebellar ataxia, deafness, and narcolepsy" RELATED [GARD:0012372] synonym: "autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome" RELATED [GARD:0012372] synonym: "cerebellar ataxia, deafness, and narcolepsy, autosomal dominant" RELATED [MONDO:Lexical, OMIM:604121] xref: DOID:0050968 {source="MONDO:equivalentTo"} xref: OMIM:604121 {source="Orphanet:314404", source="MONDO:equivalentTo", source="DOID:0050968", source="Orphanet:314404/e"} xref: Orphanet:314404 {source="MONDO:equivalentTo", source="OMIM:604121"} xref: UMLS:CN203753 {source="MONDO:equivalentTo"} is_a: MONDO:0003406 {source="Orphanet:314404"} ! sleep-wake disorder is_a: MONDO:0019792 {source="Orphanet:314404"} ! autosomal dominant cerebellar ataxia type I property_value: exactMatch DOID:0050968 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203753 property_value: exactMatch https://omim.org/entry/604121 property_value: exactMatch Orphanet:314404 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12372/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy xsd:anyURI {source="GARD:0012372"} [Term] id: MONDO:0011398 name: dystrophic epidermolysis bullosa pruriginosa def: "Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus." [Orphanet:89843] subset: ordo_disease {source="Orphanet:89843"} synonym: "DEB, pruriginosa" EXACT [Orphanet:89843] synonym: "Deb, pruriginosa" RELATED [OMIM:604129] synonym: "DEB-Pr" EXACT [Orphanet:89843] synonym: "dystrophic epidermolysis bullosa pruriginosa" EXACT [OMIM:604129] synonym: "epidermolysis bullosa pruriginosa" RELATED [OMIM:604129] synonym: "pruriginous dystrophic epidermolysis bullosa" EXACT [Orphanet:89843] xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563192 {source="MONDO:equivalentTo"} xref: OMIM:604129 {source="Orphanet:89843", source="MONDO:equivalentTo", source="Orphanet:89843/e"} xref: Orphanet:89843 {source="OMIM:604129", source="MONDO:equivalentTo"} xref: SCTID:403810008 {source="MONDO:equivalentTo"} xref: UMLS:C1275114 {source="Orphanet:89843", source="OMIM:604129", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:1000692 {source="Orphanet:89843"} ! epidermolysis bullosa dystrophica property_value: exactMatch http://identifiers.org/mesh/C563192 property_value: exactMatch http://identifiers.org/snomedct/403810008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275114 property_value: exactMatch https://omim.org/entry/604129 property_value: exactMatch Orphanet:89843 [Term] id: MONDO:0011399 name: alpha thalassemia def: "Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles." [Orphanet:846] subset: ordo_disease {source="Orphanet:846"} synonym: "A-thalassemia" RELATED [GARD:0000621] synonym: "Alpha thalassaemia" EXACT [DOID:1099] synonym: "alpha thalassemia" EXACT [] synonym: "alpha-thalassemia" EXACT [DOID:1099] synonym: "thalassemia, alpha-" EXACT [OMIM:604131, OMIM:genemap2] synonym: "thalassemias, alpha-" EXACT [OMIM:604131, OMIM:genemap2] xref: DOID:1099 {source="MONDO:equivalentTo"} xref: ICD10CM:D56.0 {source="DOID:1099", source="MONDO:equivalentTo", source="Orphanet:846", source="Orphanet:846/specific", source="Orphanet:846/e"} xref: ICD9:282.43 {source="DOID:1099"} xref: ICD9:282.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10043390 {source="Orphanet:846", source="Orphanet:846/e"} xref: MESH:D017085 {source="DOID:1099", source="MONDO:equivalentTo", source="Orphanet:846", source="Orphanet:846/e"} xref: NCIT:C34368 {source="DOID:1099", source="MONDO:equivalentTo"} xref: OMIM:604131 {source="DOID:1099", source="MONDO:equivalentTo", source="Orphanet:846", source="Orphanet:846/e"} xref: Orphanet:846 {source="MONDO:equivalentTo", source="OMIM:604131"} xref: SCTID:68913001 {source="DOID:1099", source="MONDO:equivalentTo"} xref: UMLS:C0002312 {source="DOID:1099", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:846", source="NCIT:C34368", source="OMIM:604131", source="Orphanet:846/e"} is_a: EFO:1001996 {source="DOID:1099", source="ICD10CM:D56.0", source="MESH:D017085", source="NCIT:C34368", source="Orphanet:846/inferred"} ! Thalassemia is_a: MONDO:0017144 {source="Orphanet:846"} ! alpha-thalassemia and related diseases property_value: closeMatch http://identifiers.org/meddra/10043390 property_value: exactMatch DOID:1099 property_value: exactMatch http://identifiers.org/mesh/D017085 property_value: exactMatch http://identifiers.org/snomedct/68913001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002312 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D56.0 property_value: exactMatch https://omim.org/entry/604131 property_value: exactMatch NCIT:C34368 property_value: exactMatch Orphanet:846 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011402 name: congenital cataracts-facial dysmorphism-neuropathy syndrome def: "Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance." [Orphanet:48431] subset: ordo_malformation_syndrome {source="Orphanet:48431"} synonym: "cataract, congenital, with Facial Dysmorphism and neuropathy" RELATED [OMIM:604168] synonym: "CCFDN" EXACT ABBREVIATION [MONDO:Lexical, OMIM:604168, Orphanet:48431] synonym: "congenital cataracts, facial dysmorphism, and neuropathy" RELATED [MONDO:Lexical, OMIM:604168] synonym: "congenital cataracts-facial dysmorphism-neuropathy syndrome" EXACT [] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C565822 {source="MONDO:equivalentTo"} xref: OMIM:604168 {source="Orphanet:48431/e", source="MONDO:equivalentTo", source="Orphanet:48431"} xref: Orphanet:48431 {source="OMIM:604168", source="MONDO:equivalentTo"} xref: SCTID:702433001 {source="MONDO:equivalentTo"} xref: UMLS:C1858726 {source="OMIM:604168", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:48431"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:48431", source="Orphanet:485405"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015361 {source="Orphanet:48431"} ! autosomal recessive hereditary demyelinating motor and sensory neuropathy is_a: MONDO:0016949 {source="Orphanet:485405"} ! partial duplication of the short arm of chromosome 16 is_a: MONDO:0020046 {source="Orphanet:48431"} ! autosomal recessive degenerative and progressive cerebellar ataxia property_value: exactMatch http://identifiers.org/mesh/C565822 property_value: exactMatch http://identifiers.org/snomedct/702433001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858726 property_value: exactMatch https://omim.org/entry/604168 property_value: exactMatch Orphanet:48431 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:48431", source="Orphanet:485405"} property_value: excluded_subClassOf MONDO:0005071 property_value: excluded_subClassOf MONDO:0020165 {source="Orphanet:48431"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0011405 name: poikiloderma with neutropenia def: "A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13." [DOID:0060551, PMID:20734427] subset: ordo_disease {source="Orphanet:221046"} synonym: "Clericuzio type poikiloderma with neutropenia" RELATED [GARD:0004085] synonym: "PN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604173] synonym: "poikiloderma with neutropenia" EXACT [MONDO:Lexical, OMIM:604173] synonym: "poikiloderma with neutropenia Clericuzio type" RELATED [GARD:0004085] synonym: "poikiloderma with neutropenia, Clericuzio type" EXACT [Orphanet:221046] synonym: "poikiloderma with neutropenia, Clericuzio-type" RELATED [OMIM:604173] xref: DOID:0060551 {source="MONDO:equivalentTo"} xref: NCIT:C177535 {source="MONDO:equivalentTo"} xref: OMIM:604173 {source="Orphanet:221046", source="DOID:0060551", source="MONDO:equivalentTo", source="Orphanet:221046/e"} xref: Orphanet:221046 {source="DOID:0060551", source="MONDO:equivalentTo", source="OMIM:604173"} is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia is_a: MONDO:0016382 {source="Orphanet:221046"} ! hereditary poikiloderma is_a: MONDO:0100118 ! hereditary skin disorder relationship: disease_has_feature MONDO:0001475 {source="MONDO:Wikidata"} ! neutropenia property_value: exactMatch DOID:0060551 property_value: exactMatch https://omim.org/entry/604173 property_value: exactMatch NCIT:C177535 property_value: exactMatch Orphanet:221046 [Term] id: MONDO:0011408 name: hereditary spastic paraplegia 10 def: "Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case." [Orphanet:100991] subset: ordo_disease {source="Orphanet:100991"} synonym: "autosomal dominant spastic paraplegia" RELATED [GARD:0009590] synonym: "autosomal dominant spastic paraplegia 10" EXACT [DOID:0110763] synonym: "autosomal dominant spastic paraplegia type 10" EXACT [DOID:0110763] synonym: "hereditary spastic paraplegia caused by mutation in KIF5A" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 10" EXACT [DOID:0110763, MONDORULE:2] synonym: "KIF5A hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "spastic paraplegia 10" RELATED [GARD:0009590] synonym: "spastic paraplegia 10 with or without peripheral neuropathy" RELATED [OMIM:604187] synonym: "spastic paraplegia 10, autosomal dominant" RELATED [MONDO:Lexical, OMIM:604187] synonym: "SPG10" EXACT ABBREVIATION [DOID:0110763, MONDO:Lexical, OMIM:604187, Orphanet:100991] xref: DOID:0110763 {source="MONDO:equivalentTo"} xref: MESH:C537482 {source="Orphanet:100991", source="MONDO:equivalentTo", source="Orphanet:100991/e"} xref: OMIM:604187 {source="Orphanet:100991", source="MONDO:equivalentTo", source="Orphanet:100991/e", source="DOID:0110763"} xref: Orphanet:100991 {source="MONDO:equivalentTo", source="OMIM:604187", source="DOID:0110763"} xref: SCTID:732948003 {source="MONDO:equivalentTo"} xref: UMLS:C1858712 {source="Orphanet:100991", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:100991/e", source="OMIM:604187"} xref: UMLS:C4518536 {source="MONDO:equivalentTo"} is_a: MONDO:0017914 {source="Orphanet:100991"} ! pure or complex autosomal dominant spastic paraplegia property_value: exactMatch DOID:0110763 property_value: exactMatch http://identifiers.org/mesh/C537482 property_value: exactMatch http://identifiers.org/snomedct/732948003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858712 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518536 property_value: exactMatch https://omim.org/entry/604187 property_value: exactMatch Orphanet:100991 [Term] id: MONDO:0011411 name: Chudley-McCullough syndrome subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:314597"} synonym: "Chudley-McCullough syndrome" EXACT [MONDO:Lexical, OMIM:604213] synonym: "CMCS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604213] synonym: "deafness, autosomal recessive 82" RELATED [OMIM:604213] synonym: "deafness, autosomal recessive 82, formerly" RELATED [OMIM:604213] synonym: "deafness, bilateral sensorineural, and hydrocephalus due to foramen of Monro obstruction" RELATED [GARD:0000086] synonym: "deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts" RELATED [GARD:0000086, OMIM:604213] xref: MESH:C535459 {source="MONDO:equivalentTo"} xref: OMIM:604213 {source="Orphanet:314597/e", source="MONDO:equivalentTo", source="GARD:0000086", source="Orphanet:314597"} xref: Orphanet:314597 {source="OMIM:604213", source="MONDO:equivalentTo"} xref: UMLS:C1858695 {source="OMIM:604213", source="Orphanet:314597/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="GARD:0000086", source="Orphanet:314597"} is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:314597", source="Orphanet:314597/inferred"} ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C535459 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858695 property_value: exactMatch https://omim.org/entry/604213 property_value: exactMatch Orphanet:314597 [Term] id: MONDO:0011412 name: familial encephalopathy with neuroserpin inclusion bodies subset: gard_rare {source="GARD:0010037"} subset: ordo_disease {source="Orphanet:85110"} synonym: "encephalopathy, familial, with Collins bodies" RELATED [OMIM:604218] synonym: "encephalopathy, familial, with neuroserpin inclusion bodies" RELATED [MONDO:Lexical, OMIM:604218] synonym: "FENIB" EXACT ABBREVIATION [DOID:0050831, MONDO:Lexical, OMIM:604218, Orphanet:85110] xref: DOID:0050831 {source="MONDO:equivalentTo"} xref: ICD9:348.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536841 {source="Orphanet:85110/e", source="MONDO:equivalentTo", source="Orphanet:85110"} xref: OMIM:604218 {source="Orphanet:85110/e", source="MONDO:equivalentTo", source="DOID:0050831", source="Orphanet:85110"} xref: Orphanet:85110 {source="MONDO:equivalentTo", source="OMIM:604218"} xref: SCTID:702421006 {source="MONDO:equivalentTo"} xref: UMLS:C1858680 {source="Orphanet:85110/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:604218", source="Orphanet:85110"} is_a: MONDO:0020074 {source="Orphanet:85110"} ! progressive myoclonus epilepsy is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy property_value: exactMatch DOID:0050831 property_value: exactMatch http://identifiers.org/mesh/C536841 property_value: exactMatch http://identifiers.org/snomedct/702421006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858680 property_value: exactMatch https://omim.org/entry/604218 property_value: exactMatch Orphanet:85110 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5671 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10037/familial-encephalopathy-with-neuroserpin-inclusion-bodies xsd:anyURI {source="GARD:0010037"} [Term] id: MONDO:0011414 name: Peters anomaly def: "Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane." [Orphanet:708] subset: ordo_morphological_anomaly {source="Orphanet:708"} synonym: "anterior segment dysgenesis 5" RELATED [OMIM:604229] synonym: "anterior segment dysgenesis 5, multiple subtypes" EXACT [OMIM:604229, OMIM:genemap2] synonym: "ASGD5" RELATED ABBREVIATION [OMIM:604229] synonym: "Peters anomaly" EXACT [MONDO:ambiguous, OMIM:604229] synonym: "Peters anomaly (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Peters congenital glaucoma" EXACT [Orphanet:708] xref: DOID:0060673 {source="MONDO:equivalentTo"} xref: DOID:0080610 {source="MONDO:equivalentTo"} xref: HP:0000659 {source="MONDO:otherHierarchy"} xref: ICD9:743.44 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10059202 {source="Orphanet:708/e", source="Orphanet:708"} xref: MESH:C537884 {source="Orphanet:708/e", source="DOID:0060673", source="MONDO:equivalentTo", source="Orphanet:708"} xref: OMIM:604229 {source="Orphanet:708/e", source="DOID:0060673", source="MONDO:equivalentTo", source="Orphanet:708"} xref: Orphanet:708 {source="DOID:0060673", source="MONDO:equivalentTo", source="OMIM:604229"} xref: SCTID:204153003 {source="MONDO:equivalentTo"} is_a: EFO:0009464 {source="DOID:0060673", source="MESH:C537884/inferred"} ! corneal disease is_a: MONDO:0019503 {source="DC-OMIM:604229", source="OMIM:604229"} ! anterior segment dysgenesis property_value: closeMatch http://identifiers.org/meddra/10059202 property_value: exactMatch DOID:0060673 property_value: exactMatch DOID:0080610 property_value: exactMatch http://identifiers.org/mesh/C537884 property_value: exactMatch http://identifiers.org/snomedct/204153003 property_value: exactMatch https://omim.org/entry/604229 property_value: exactMatch Orphanet:708 property_value: excluded_subClassOf MONDO:0020220 {source="Orphanet:708"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000589 "Peters anomaly (disease)" xsd:string [Term] id: MONDO:0011417 name: hemochromatosis type 3 def: "Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin." [Orphanet:225123] subset: gard_rare {source="GARD:0010093"} subset: ordo_disease {source="Orphanet:225123"} synonym: "hemochromatosis due to defect in transferrin receptor 2" EXACT [DOID:0111030, OMIM:604250] synonym: "hemochromatosis type 3" EXACT [] synonym: "hemochromatosis, type 3" RELATED [MONDO:Lexical, OMIM:604250] synonym: "hereditary hemochromatosis caused by mutation in TFR2" EXACT [MONDO:design_pattern] synonym: "HFE3" EXACT ABBREVIATION [DOID:0111030, MONDO:Lexical, OMIM:604250] synonym: "TFR2 hereditary hemochromatosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "TFR2-related hemochromatosis" EXACT [DOID:0111030, Orphanet:225123] xref: DOID:0111030 {source="MONDO:equivalentTo"} xref: MESH:C537248 {source="Orphanet:225123/e", source="DOID:0111030", source="MONDO:equivalentTo", source="Orphanet:225123"} xref: OMIM:604250 {source="Orphanet:225123/e", source="DOID:0111030", source="MONDO:equivalentTo", source="Orphanet:225123"} xref: Orphanet:225123 {source="DOID:0111030", source="MONDO:equivalentTo", source="OMIM:604250"} xref: SCTID:719974003 {source="MONDO:equivalentTo"} xref: UMLS:C1858664 {source="Orphanet:225123/e", source="DOID:0111030", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:604250", source="Orphanet:225123"} is_a: MONDO:0006507 {source="DOID:0111030", source="MESH:C537248", source="MONDO:Redundant", source="OMIM:604250", source="Orphanet:225123"} ! hereditary hemochromatosis relationship: has_characteristic MONDO:0021136 {source="MONDO:0016363"} ! rare property_value: exactMatch DOID:0111030 property_value: exactMatch http://identifiers.org/mesh/C537248 property_value: exactMatch http://identifiers.org/snomedct/719974003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858664 property_value: exactMatch https://omim.org/entry/604250 property_value: exactMatch Orphanet:225123 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10093/hemochromatosis-type-3 xsd:anyURI {source="GARD:0010093"} [Term] id: MONDO:0011420 name: short stature due to partial GHR deficiency def: "Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone." [Orphanet:314802] subset: ordo_disease {source="Orphanet:314802"} synonym: "GHIP" RELATED ABBREVIATION [MESH:C565805, MONDO:Lexical, OMIM:604271] synonym: "Growth hormone deficiency, isolated, partial" RELATED [MESH:C565805] synonym: "growth hormone insensitivity, partial" RELATED [MESH:C565805, MONDO:Lexical, OMIM:604271] synonym: "Growth hormone, insensitivity to, partial" RELATED [MESH:C565805] synonym: "increased responsiveness to Growth hormone" RELATED [OMIM:604271] synonym: "short stature due to partial growth hormone receptor deficiency" EXACT [Orphanet:314802] xref: MESH:C565805 {source="MONDO:equivalentTo"} xref: OMIM:604271 {source="MEDIC:C565805", source="MONDO:equivalentTo", source="Orphanet:314802", source="Orphanet:314802/e"} xref: Orphanet:314802 {source="MONDO:equivalentTo", source="OMIM:604271"} is_a: EFO:1001109 {source="MESH:C565805"} ! pituitary dwarfism is_a: MONDO:0015892 {source="Orphanet:314802"} ! growth hormone insensitivity syndrome property_value: exactMatch http://identifiers.org/mesh/C565805 property_value: exactMatch https://omim.org/entry/604271 property_value: exactMatch Orphanet:314802 [Term] id: MONDO:0011422 name: autosomal recessive proximal renal tubular acidosis def: "Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features." [Orphanet:93607] subset: ordo_clinical_subtype {source="Orphanet:93607"} synonym: "AR pRTA" EXACT [Orphanet:93607] synonym: "proximal renal tubular acidosis with ocular abnormalities and intellectual disability" EXACT [Orphanet:93607] synonym: "proximal renal tubular acidosis, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] synonym: "renal tubular acidosis, proximal, with ocular abnormalities" EXACT [OMIM:604278, OMIM:genemap2] synonym: "renal tubular acidosis, proximal, with ocular abnormalities and intellectual disability" RELATED [OMIM:604278] synonym: "renal tubular acidosis, proximal, with ocular abnormalities and mental retardation" RELATED DEPRECATED [OMIM:604278] synonym: "RTA, proximal, autosomal recessive" RELATED [OMIM:604278] xref: MESH:C567038 {source="MONDO:equivalentTo"} xref: OMIM:604278 {source="Orphanet:93607/e", source="MONDO:equivalentTo", source="Orphanet:93607"} xref: Orphanet:93607 {source="OMIM:604278", source="MONDO:equivalentTo"} xref: UMLS:C1970309 {source="OMIM:604278", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:93607"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0008369 {source="MONDO:Redundant", source="Orphanet:93607"} ! proximal renal tubular acidosis property_value: exactMatch http://identifiers.org/mesh/C567038 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970309 property_value: exactMatch https://omim.org/entry/604278 property_value: exactMatch Orphanet:93607 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011423 name: autosomal recessive limb-girdle muscular dystrophy type 2E def: "Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed." [Orphanet:119] subset: gard_rare subset: ordo_disease {source="Orphanet:119"} synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCB" EXACT [MONDO:design_pattern] synonym: "Beta-sarcoglycan limb-girdle muscular dystrophy" RELATED [GARD:0003851] synonym: "beta-sarcoglycanopathy" BROAD [DOID:0110279, Orphanet:119] synonym: "LGMD2E" EXACT ABBREVIATION [DOID:0110279, MONDO:Lexical, OMIM:604286, Orphanet:119] synonym: "limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency" EXACT [DOID:0110279, Orphanet:119] synonym: "limb-girdle muscular dystrophy type 2E" RELATED [GARD:0003851] synonym: "muscular dystrophy limb-girdle with beta-sarcoglycan deficiency" RELATED [GARD:0003851] synonym: "muscular dystrophy, limb-girdle, autosomal recessive 4" EXACT [OMIM:604286, OMIM:genemap2] synonym: "muscular dystrophy, limb-girdle, type 2E" EXACT [DOID:0110279, MONDO:Lexical, OMIM:604286] synonym: "SGCB autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110279 {source="MONDO:equivalentTo"} xref: OMIM:604286 {source="Orphanet:119", source="MONDO:equivalentTo", source="Orphanet:119/e", source="DOID:0110279"} xref: Orphanet:119 {source="MONDO:equivalentTo", source="OMIM:604286", source="DOID:0110279"} xref: SCTID:718850008 {source="MONDO:equivalentTo"} is_a: MONDO:0015152 {source="DOID:0110279", source="MONDO:Redundant", source="OMIM:604286", source="Orphanet:119"} ! autosomal recessive limb-girdle muscular dystrophy is_a: MONDO:0016142 {source="Orphanet:119"} ! qualitative or quantitative defects of beta-sarcoglycan is_a: MONDO:0016333 ! familial dilated cardiomyopathy property_value: exactMatch DOID:0110279 property_value: exactMatch http://identifiers.org/snomedct/718850008 property_value: exactMatch https://omim.org/entry/604286 property_value: exactMatch Orphanet:119 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011424 name: Carney triad def: "Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas." [Orphanet:139411] subset: gard_rare {source="GARD:0010924"} subset: ordo_disease {source="Orphanet:139411"} synonym: "Carney triad" EXACT [OMIM:604287] synonym: "gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma" RELATED [OMIM:604287] xref: MESH:C565803 {source="MONDO:equivalentTo"} xref: NCIT:C94833 {source="MONDO:equivalentTo"} xref: OMIM:604287 {source="Orphanet:139411/e", source="MONDO:equivalentTo", source="Orphanet:139411"} xref: Orphanet:139411 {source="MONDO:equivalentTo", source="OMIM:604287"} xref: SCTID:733492003 {source="MONDO:equivalentTo"} xref: UMLS:C1858592 {source="NCIT:C94833", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:139411", source="OMIM:604287"} is_a: MONDO:0015079 {source="Orphanet:139411"} ! multiple polyglandular tumor is_a: MONDO:0021058 {source="NCIT:C94833"} ! neoplastic syndrome relationship: disease_has_feature EFO:0000489 ! extra-adrenal sympathetic paraganglioma relationship: disease_has_feature MONDO:0011719 ! gastrointestinal stromal tumor relationship: disease_has_feature MONDO:0021117 ! lung neoplasm relationship: has_characteristic MONDO:0021141 ! acquired property_value: exactMatch http://identifiers.org/mesh/C565803 property_value: exactMatch http://identifiers.org/snomedct/733492003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858592 property_value: exactMatch https://omim.org/entry/604287 property_value: exactMatch NCIT:C94833 property_value: exactMatch Orphanet:139411 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10924/carney-triad xsd:anyURI {source="GARD:0010924"} [Term] id: MONDO:0011426 name: aceruloplasminemia def: "An adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." [https://orcid.org/0000-0001-5208-3432, Orphanet:48818] subset: gard_rare {source="GARD:0009499"} subset: ordo_disease {source="Orphanet:48818"} synonym: "aceruloplasminemia" EXACT [OMIM:604290] synonym: "cerebellar ataxia" BROAD [OMIM:604290, OMIM:genemap2] synonym: "ceruloplasmin deficiency" RELATED [OMIM:604290] synonym: "familial apoceruloplasmin deficiency" RELATED [GARD:0009499] synonym: "hemosiderosis, systemic, due to aceruloplasminemia" RELATED [OMIM:604290] synonym: "hereditary ceruloplasmin deficiency" EXACT [Orphanet:48818] synonym: "hypoceruloplasminemia" RELATED [OMIM:604290] synonym: "hypoceruloplasminemia, hereditary" EXACT [OMIM:604290, OMIM:genemap2] synonym: "systemic hemosiderosis due to aceruloplasminemia" RELATED [GARD:0009499] xref: DOID:0050711 {source="MONDO:equivalentTo"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:604290 {source="DOID:0050711", source="MONDO:equivalentTo", source="Orphanet:48818", source="Orphanet:48818/e"} xref: Orphanet:48818 {source="MONDO:equivalentTo", source="OMIM:604290"} xref: SCTID:124224004 {source="MONDO:equivalentTo"} is_a: MONDO:0004884 ! eye degenerative disorder is_a: MONDO:0016624 ! inherited deficiency anemia is_a: MONDO:0017763 {source="Orphanet:48818"} ! disorder of iron metabolism and transport is_a: MONDO:0018307 {source="Orphanet:48818"} ! neurodegeneration with brain iron accumulation is_a: MONDO:0019118 {source="MONDO:Redundant", source="Orphanet:48818"} ! inherited retinal dystrophy property_value: exactMatch DOID:0050711 property_value: exactMatch http://identifiers.org/snomedct/124224004 property_value: exactMatch https://omim.org/entry/604290 property_value: exactMatch Orphanet:48818 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9499/aceruloplasminemia xsd:anyURI {source="GARD:0009499"} [Term] id: MONDO:0011428 name: ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 def: "Any EEC syndrome in which the cause of the disease is a mutation in the TP63 gene." [MONDO:patterns/disease_series_by_gene] synonym: "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome type 3" EXACT [DOID:0060783, MONDORULE:1] synonym: "ectrodactyly, ectodermal dysplasia, and cleft LIP/palate syndrome 3" RELATED [MONDO:Lexical, OMIM:604292] synonym: "ectrodactyly, ectodermal dysplasia, and cleft Lip/palate syndrome type 3" EXACT [MONDORULE:1, OMIM:604292] synonym: "EEC syndrome 3" EXACT [DOID:0060783, OMIM:604292] synonym: "EEC syndrome caused by mutation in TP63" EXACT [MONDO:design_pattern] synonym: "EEC3" EXACT ABBREVIATION [DOID:0060783, MONDO:Lexical, OMIM:604292] synonym: "TP63 EEC syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060783 {source="MONDO:equivalentTo"} xref: MESH:C565799 {source="MONDO:equivalentTo"} xref: OMIM:604292 {source="DOID:0060783", source="MONDO:equivalentTo"} is_a: MONDO:0010004 {source="DC-OMIM:604292", source="DOID:0060783", source="MONDO:Redundant"} ! EEC syndrome is_a: MONDO:0800090 {source="PMID:31633310"} ! ectrodactyly with and without other manifestations property_value: exactMatch DOID:0060783 property_value: exactMatch http://identifiers.org/mesh/C565799 property_value: exactMatch https://omim.org/entry/604292 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0011430 name: pulverulent cataract def: "A cataract that has material basis in heterozygous mutation in the CRYGC gene on chromosome 2q33." [Orphanet:98984] subset: ordo_clinical_subtype {source="Orphanet:98984"} synonym: "Coppock-like cataract" EXACT [Orphanet:98984] synonym: "dusty cataract" EXACT [Orphanet:98984] synonym: "pulverulent cataract" EXACT [Orphanet:98984] xref: MESH:C565133 {source="MONDO:equivalentTo"} xref: Orphanet:98984 {source="MONDO:equivalentTo", source="OMIM:604307"} xref: Orphanet:98986 {source="MONDO:equivalentObsolete", source="OMIM:604307"} xref: Orphanet:98995 {source="MONDO:relatedTo", source="OMIM:604307"} xref: UMLS:C1833118 {source="Orphanet:98984", source="MONDO:equivalentTo"} xref: UMLS:C1852438 {source="MONDO:relatedTo", source="Orphanet:98984", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:CN207240 {source="MONDO:equivalentObsolete"} is_a: MONDO:0011060 {source="Orphanet:91492/btnt", source="Orphanet:98984", source="Orphanet:98984/inferred"} ! early-onset non-syndromic cataract property_value: exactMatch http://identifiers.org/mesh/C565133 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833118 property_value: exactMatch Orphanet:98984 property_value: excluded_subClassOf MONDO:0005129 {source="DOID:0110235", source="MESH:C565133"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3904 xsd:anyURI property_value: relatedMatch http://linkedlifedata.com/resource/umls/id/C1852438 [Term] id: MONDO:0011431 name: MASS syndrome def: "A genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individuals symptoms." [https://orcid.org/0000-0001-5208-3432, https://rarediseases.info.nih.gov/diseases/8489/mass-syndrome] subset: gard_rare {source="GARD:0008489"} synonym: "MASS phenotype" EXACT [OMIM:604308] synonym: "MASS syndrome" EXACT [OMIM:604308] synonym: "Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings" RELATED [GARD:0008489] synonym: "OCTD" RELATED ABBREVIATION [GARD:0008489] synonym: "overlap connective tissue disease" RELATED [OMIM:604308] xref: MESH:C536030 {source="MONDO:equivalentTo"} xref: OMIM:604308 {source="MONDO:equivalentTo"} xref: Orphanet:99715 {source="MONDO:equivalentObsolete", source="OMIM:604308"} xref: UMLS:C1858556 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:604308"} is_a: MONDO:0016663 ! overlapping connective tissue disease is_a: MONDO:0023603 ! hereditary disorder of connective tissue property_value: exactMatch http://identifiers.org/mesh/C536030 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858556 property_value: exactMatch https://omim.org/entry/604308 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8489/mass-syndrome xsd:anyURI {source="GARD:0008489"} [Term] id: MONDO:0011432 name: blepharophimosis - intellectual disability syndrome, Verloes type subset: ordo_malformation_syndrome {source="Orphanet:293725"} synonym: "blepharophimosis with facial and genital anomalies and intellectual disability" RELATED [OMIM:604314] synonym: "blepharophimosis with facial and genital anomalies and mental retardation" RELATED DEPRECATED [OMIM:604314] synonym: "blepharophimosis-intellectual disability syndrome type V" EXACT [Orphanet:293725] synonym: "blepharophimosis-intellectual disability syndrome, Verloes type" RELATED [OMIM:604314] synonym: "blepharophimosis-mental retardation syndrome, Verloes type" RELATED DEPRECATED [OMIM:604314] synonym: "BMRS type V" EXACT [Orphanet:293725] synonym: "BMRS, Verloes type" EXACT [Orphanet:293725] xref: MESH:C565797 {source="MONDO:equivalentTo"} xref: OMIM:604314 {source="Orphanet:293725", source="MONDO:equivalentTo", source="Orphanet:293725/e"} xref: Orphanet:293725 {source="OMIM:604314", source="MONDO:equivalentTo"} xref: UMLS:C1858538 {source="Orphanet:293725", source="OMIM:604314", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0017393 {source="Orphanet:293725"} ! blepharophimosis - intellectual disability syndrome property_value: exactMatch http://identifiers.org/mesh/C565797 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858538 property_value: exactMatch https://omim.org/entry/604314 property_value: exactMatch Orphanet:293725 [Term] id: MONDO:0011436 name: autosomal recessive distal spinal muscular atrophy 1 def: "Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features." [Orphanet:98920] subset: ordo_disease {source="Orphanet:98920"} synonym: "autosomal recessive distal spinal muscular atrophy 1" EXACT [] synonym: "autosomal recessive distal spinal muscular atrophy type 1" EXACT [DOID:0111064, MONDORULE:1, Orphanet:98920] synonym: "autosomal recessive spinal muscular atrophy with respiratory distress" EXACT [DOID:0111064, Orphanet:98920] synonym: "dHMN6" EXACT [DOID:0111064, Orphanet:98920] synonym: "diaphragmatic spinal muscular atrophy" EXACT [DOID:0111064, Orphanet:98920] synonym: "distal hereditary motor neuropathy type 6" EXACT [DOID:0111064, Orphanet:98920] synonym: "distal-HMN type 6" EXACT [DOID:0111064, Orphanet:98920] synonym: "DSMA1" EXACT ABBREVIATION [DOID:0111064, MONDO:Lexical, OMIM:604320] synonym: "dSMA1" EXACT [Orphanet:98920] synonym: "HMN 6" RELATED [OMIM:604320] synonym: "HMN VI" RELATED [GARD:0008592] synonym: "Hmn6" RELATED [OMIM:604320] synonym: "IGHMBP2 spinal muscular atrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "neuronopathy, distal hereditary motor, type 6" RELATED [OMIM:604320] synonym: "neuronopathy, distal hereditary motor, type VI" RELATED [GARD:0008592] synonym: "neuronopathy, Severe infantile axonal, with respiratory failure" RELATED [OMIM:604320] synonym: "severe infantile axonal neuropathy with respiratory failure" RELATED [OMIM:604320] synonym: "severe infantile axonal neuropathy with respiratory failure type 1" EXACT [DOID:0111064, Orphanet:98920] synonym: "SIANRF" EXACT ABBREVIATION [DOID:0111064, Orphanet:98920] synonym: "SMARD1" EXACT ABBREVIATION [DOID:0111064, Orphanet:98920] synonym: "spinal muscular atrophy caused by mutation in IGHMBP2" EXACT [MONDO:design_pattern] synonym: "spinal muscular atrophy with respiratory distress 1" RELATED [OMIM:604320] synonym: "spinal muscular atrophy with respiratory distress type 1" EXACT [DOID:0111064] synonym: "spinal muscular atrophy, diaphragmatic" RELATED [OMIM:604320] synonym: "spinal muscular atrophy, distal, autosomal recessive, 1" RELATED [MONDO:Lexical, OMIM:604320] synonym: "spinal muscular atrophy, distal, autosomal recessive, type 1" EXACT [MONDORULE:1, OMIM:604320] xref: DOID:0111064 {source="MONDO:equivalentTo"} xref: ICD9:335.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536880 {source="MONDO:equivalentTo"} xref: OMIM:604320 {source="Orphanet:98920", source="MONDO:equivalentTo", source="DOID:0111064", source="Orphanet:98920/e"} xref: Orphanet:98920 {source="MONDO:equivalentTo", source="DOID:0111064", source="OMIM:604320"} xref: SCTID:711483003 {source="MONDO:equivalentTo"} xref: UMLS:C1858517 {source="Orphanet:98920", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:604320"} is_a: EFO:0008525 {source="DC-OMIM:604320", source="DOID:0111064", source="MESH:C536880", source="MONDO:Redundant"} ! spinal muscular atrophy is_a: MONDO:0015363 {source="Orphanet:98920"} ! autosomal recessive distal hereditary motor neuropathy property_value: exactMatch DOID:0111064 property_value: exactMatch http://identifiers.org/mesh/C536880 property_value: exactMatch http://identifiers.org/snomedct/711483003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858517 property_value: exactMatch https://omim.org/entry/604320 property_value: exactMatch Orphanet:98920 [Term] id: MONDO:0011439 name: spinocerebellar ataxia type 12 def: "Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." [Orphanet:98762] subset: ordo_disease {source="Orphanet:98762"} synonym: "SCA12" EXACT ABBREVIATION [MONDO:Lexical, OMIM:604326, Orphanet:98762] synonym: "spinocerebellar ataxia 12" RELATED [MONDO:Lexical, OMIM:604326] synonym: "spinocerebellar ataxia type 12" EXACT [MONDORULE:2, OMIM:604326] xref: DOID:0050962 {source="MONDO:equivalentTo"} xref: MESH:C565790 {source="MONDO:equivalentTo"} xref: NCIT:C154316 {source="MONDO:equivalentTo"} xref: OMIM:604326 {source="Orphanet:98762", source="DOID:0050962", source="MONDO:equivalentTo", source="Orphanet:98762/e"} xref: Orphanet:98762 {source="OMIM:604326", source="MONDO:equivalentTo"} xref: SCTID:719208005 {source="MONDO:equivalentTo"} xref: UMLS:C1858501 {source="Orphanet:98762", source="OMIM:604326", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4304885 {source="MONDO:equivalentObsolete"} is_a: MONDO:0019792 {source="Orphanet:98762"} ! autosomal dominant cerebellar ataxia type I property_value: exactMatch DOID:0050962 property_value: exactMatch http://identifiers.org/mesh/C565790 property_value: exactMatch http://identifiers.org/snomedct/719208005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858501 property_value: exactMatch https://omim.org/entry/604326 property_value: exactMatch NCIT:C154316 property_value: exactMatch Orphanet:98762 [Term] id: MONDO:0011445 name: hereditary spastic paraplegia 11 def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the SPG11 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:2822"} synonym: "autosomal recessive spastic paraplegia 11" EXACT [DOID:0110764] synonym: "autosomal recessive spastic paraplegia complicated with thin corpus callosum" EXACT [DOID:0110764] synonym: "autosomal recessive spastic paraplegia type 11" EXACT [DOID:0110764] synonym: "autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum" EXACT [DOID:0110764] synonym: "hereditary spastic paraplegia caused by mutation in SPG11" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia mental impairment and thin corpus callosum" RELATED [GARD:0004919] synonym: "hereditary spastic paraplegia type 11" EXACT [DOID:0110764, MONDORULE:2] synonym: "HSP-TCC" EXACT [DOID:0110764, OMIM:604360] synonym: "Nakamura Osame syndrome" RELATED [GARD:0004919] synonym: "Nakamura-Osame syndrome" EXACT [DOID:0110764, Orphanet:2822] synonym: "spastic paraplegia - intellectual deficit - thin corpus callosum" RELATED [GARD:0004919] synonym: "spastic paraplegia 11" RELATED [GARD:0004919] synonym: "spastic paraplegia 11, autosomal recessive" RELATED [MONDO:Lexical, OMIM:604360] synonym: "spastic paraplegia, autosomal recessive, complicated, with thin corpus callosum" RELATED [OMIM:604360] synonym: "spastic paraplegia, autosomal recessive, with mental impairment and thin corpus callosum" RELATED [OMIM:604360] synonym: "spastic paraplegia-intellectual disability-thin corpus callosum syndrome" EXACT [DOID:0110764, Orphanet:2822] synonym: "SPG11" EXACT ABBREVIATION [DOID:0110764, MONDO:Lexical, OMIM:604360, Orphanet:2822] synonym: "SPG11 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110764 {source="MONDO:equivalentTo"} xref: NCIT:C148317 {source="MONDO:equivalentTo"} xref: OMIM:604360 {source="DOID:0110764", source="MONDO:equivalentTo", source="Orphanet:2822", source="Orphanet:2822/e"} xref: Orphanet:2822 {source="DOID:0110764", source="MONDO:equivalentTo", source="OMIM:604360"} xref: SCTID:715491000 {source="MONDO:equivalentTo"} is_a: MONDO:0015150 {source="MONDO:Redundant"} ! complex hereditary spastic paraplegia is_a: MONDO:0017915 {source="Orphanet:2822"} ! pure or complex autosomal recessive spastic paraplegia relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: exactMatch DOID:0110764 property_value: exactMatch http://identifiers.org/snomedct/715491000 property_value: exactMatch https://omim.org/entry/604360 property_value: exactMatch NCIT:C148317 property_value: exactMatch Orphanet:2822 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:2822"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0011448 name: PPARG-related familial partial lipodystrophy subset: ordo_disease {source="Orphanet:79083"} synonym: "familial partial lipodystrophy associated with PPARG mutations" RELATED [GARD:0012600] synonym: "familial partial lipodystrophy type 3" EXACT [Orphanet:79083] synonym: "FPLD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:604367, Orphanet:79083] synonym: "insulin resistance, severe, digenic" RELATED [OMIM:604367, OMIM:genemap2] synonym: "lipodystrophy, familial partial, associated with Pparg mutations" RELATED [OMIM:604367] synonym: "lipodystrophy, familial partial, type 3" RELATED [MONDO:Lexical, OMIM:604367] synonym: "PPARG-related FPLD" EXACT [Orphanet:79083] xref: DOID:0070204 {source="MONDO:equivalentTo"} xref: OMIM:604367 {source="Orphanet:79083", source="MONDO:equivalentTo", source="Orphanet:79083/e"} xref: Orphanet:79083 {source="OMIM:604367", source="MONDO:equivalentTo"} is_a: MONDO:0020088 {source="DC-OMIM:604367", source="OMIM:604367", source="Orphanet:79083"} ! familial partial lipodystrophy property_value: exactMatch DOID:0070204 property_value: exactMatch https://omim.org/entry/604367 property_value: exactMatch Orphanet:79083 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011449 name: Salla disease def: "Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive." [https://rarediseases.info.nih.gov/diseases/4754/salla-disease] subset: gard_rare {source="GARD:0004754"} subset: ordo_clinical_subtype {source="Orphanet:309334"} synonym: "Salla disease" EXACT [MONDO:Lexical, OMIM:604369] synonym: "SD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604369] synonym: "sialic acid storage disease" EXACT [NCIT:C85067] synonym: "sialuria, Finnish type" RELATED [OMIM:604369] xref: MedDRA:10067531 {source="Orphanet:309334/e", source="Orphanet:309334"} xref: NCIT:C85067 {source="MONDO:equivalentTo"} xref: OMIM:604369 {source="Orphanet:309334/e", source="MONDO:equivalentTo", source="Orphanet:309334"} xref: Orphanet:309334 {source="OMIM:604369", source="MONDO:equivalentTo"} xref: SCTID:87074006 {source="MONDO:equivalentTo"} xref: UMLS:C1096903 {source="OMIM:604369", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:309334"} is_a: MONDO:0017706 {source="PMID:33340416"} ! disorder of carbohydrate transmembrane transport and absorption is_a: MONDO:0019366 {source="Orphanet:309334"} ! free sialic acid storage disease property_value: closeMatch http://identifiers.org/meddra/10067531 property_value: exactMatch http://identifiers.org/snomedct/87074006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1096903 property_value: exactMatch https://omim.org/entry/604369 property_value: exactMatch NCIT:C85067 property_value: exactMatch Orphanet:309334 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4754/salla-disease xsd:anyURI {source="GARD:0004754"} [Term] id: MONDO:0011450 name: breast-ovarian cancer, familial, susceptibility to, 1 def: "Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA1 gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition synonym: "BRCA1 hereditary breast ovarian cancer syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "breast cancer, familial, susceptibility to, 1" RELATED [OMIM:604370] synonym: "breast-ovarian cancer, familial, 1, multifactorial" EXACT [OMIM:604370, OMIM:genemap2] synonym: "breast-ovarian cancer, familial, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:604370] synonym: "breast-ovarian cancer, familial, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:604370] synonym: "BROVCA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604370] synonym: "hereditary breast ovarian cancer syndrome caused by mutation in BRCA1" EXACT [MONDO:design_pattern] synonym: "ovarian cancer, familial, susceptibility to, 1" RELATED [OMIM:604370] synonym: "susceptibility to familial breast-ovarian cancer 1" RELATED [OMIM:604370] xref: OMIM:604370 {source="MONDO:equivalentTo"} is_a: MONDO:0100526 {source="OMIM:604370"} ! breast-ovarian cancer, familial, susceptibility to relationship: predisposes_towards MONDO:0003582 ! hereditary breast ovarian cancer syndrome property_value: exactMatch https://omim.org/entry/604370 property_value: excluded_subClassOf MONDO:0003582 {source="MONDO:0011450"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011454 name: patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome def: "Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant." [Orphanet:228190] subset: ordo_malformation_syndrome {source="Orphanet:228190"} synonym: "patent arterial duct-bicuspid aortic valve-hand anomalies syndrome" EXACT [Orphanet:228190] synonym: "patent ductus arteriosus and bicuspid aortic valve with hand anomalies" RELATED [OMIM:604381] xref: MESH:C565782 {source="MONDO:equivalentTo"} xref: OMIM:604381 {source="Orphanet:228190", source="MONDO:equivalentTo", source="Orphanet:228190/e"} xref: Orphanet:228190 {source="MONDO:equivalentTo", source="OMIM:604381"} xref: UMLS:C1858420 {source="Orphanet:228190", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:604381"} is_a: EFO:0003777 {source="MONDO:0015506-obsoleted"} ! heart disease is_a: MONDO:0016432 {source="Orphanet:228190"} ! heart-hand syndrome property_value: exactMatch http://identifiers.org/mesh/C565782 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858420 property_value: exactMatch https://omim.org/entry/604381 property_value: exactMatch Orphanet:228190 [Term] id: MONDO:0011457 name: ataxia-telangiectasia-like disorder def: "An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia." [NCIT:C132224] subset: ordo_disease {source="Orphanet:251347"} subset: prototype_pattern synonym: "ataxia - telangiectasia-like disorder" EXACT [Orphanet:251347] synonym: "ataxia-telangiectasia-like disorder 1" RELATED [MONDO:Lexical, OMIM:604391] synonym: "ataxia-telangiectasia-like disorder type 1" EXACT [MONDORULE:1, OMIM:604391] synonym: "ATLD" EXACT ABBREVIATION [Orphanet:251347] synonym: "ATLD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604391] xref: ICD9:334.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C565779 {source="MONDO:equivalentTo"} xref: OMIMPS:604391 {source="MONDO:equivalentTo"} xref: SCTID:700058006 {source="MONDO:equivalentTo"} xref: UMLS:CN239583 {source="MONDO:equivalentTo"} is_a: MONDO:0016756 {source="Orphanet:251347"} ! inherited nervous system cancer-predisposing syndrome is_a: MONDO:0024237 ! inherited neurodegenerative disorder property_value: exactMatch http://identifiers.org/mesh/C565779 property_value: exactMatch http://identifiers.org/snomedct/700058006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239583 property_value: exactMatch https://omim.org/phenotypicSeries/PS604391 property_value: excluded_subClassOf MONDO:0019293 {source="Orphanet:251347"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5682 xsd:anyURI [Term] id: MONDO:0011459 name: arrhythmogenic right ventricular dysplasia 5 def: "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TMEM43 gene." [MONDO:patterns/disease_series_by_gene] synonym: "arrhythmogenic right ventricular cardiomyopathy 5" EXACT [DOID:0110074, OMIM:604400] synonym: "arrhythmogenic right ventricular cardiomyopathy caused by mutation in TMEM43" EXACT [MONDO:design_pattern] synonym: "arrhythmogenic right ventricular dysplasia 5" EXACT [] synonym: "arrhythmogenic right ventricular dysplasia type 5" EXACT [DOID:0110074, MONDORULE:1] synonym: "arrhythmogenic right ventricular dysplasia, familial, 5" RELATED [MONDO:Lexical, OMIM:604400] synonym: "arrhythmogenic right ventricular dysplasia, familial, type 5" EXACT [MONDORULE:1, OMIM:604400] synonym: "ARVC5" EXACT ABBREVIATION [DOID:0110074] synonym: "ARVD5" EXACT ABBREVIATION [DOID:0110074, MONDO:Lexical, OMIM:604400] synonym: "familial arrhythmogenic right ventricular dysplasia 5" EXACT [DOID:0110074] synonym: "TMEM43 arrhythmogenic right ventricular cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110074 {source="MONDO:equivalentTo"} xref: MESH:C565776 {source="MONDO:equivalentTo"} xref: OMIM:604400 {source="MONDO:equivalentTo", source="DOID:0110074"} xref: UMLS:C1858379 {source="OMIM:604400", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0016342 {source="DOID:0110074", source="MESH:C565776", source="MONDO:Redundant", source="OMIM:604400", source="Orphanet:217656/btnt"} ! familial isolated arrhythmogenic right ventricular dysplasia property_value: exactMatch DOID:0110074 property_value: exactMatch http://identifiers.org/mesh/C565776 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858379 property_value: exactMatch https://omim.org/entry/604400 [Term] id: MONDO:0011462 name: pyogenic arthritis-pyoderma gangrenosum-acne syndrome def: "A rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin." [Orphanet:69126] subset: ordo_disease {source="Orphanet:69126"} synonym: "familial recurrent arthritis" EXACT [OMIM:604416, Orphanet:69126] synonym: "fra" EXACT [Orphanet:69126] synonym: "papa" EXACT [NCIT:C119055] synonym: "papa syndrome" EXACT [OMIM:604416, Orphanet:69126] synonym: "Papas" RELATED [GARD:0009176] synonym: "pyogenic arthritis, pyoderma gangrenosum and acne" RELATED [GARD:0009176] synonym: "pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne" RELATED [GARD:0009176] synonym: "pyogenic STERILE arthritis, pyoderma gangrenosum, and acne" RELATED [OMIM:604416] xref: DOID:0080519 {source="MONDO:equivalentTo"} xref: MESH:C536253 {source="Orphanet:69126/e", source="MONDO:equivalentTo", source="Orphanet:69126"} xref: NCIT:C119055 {source="MONDO:equivalentTo"} xref: OMIM:604416 {source="Orphanet:69126/e", source="MONDO:equivalentTo", source="Orphanet:69126"} xref: Orphanet:69126 {source="MONDO:equivalentTo", source="OMIM:604416"} xref: SCTID:724015007 {source="MONDO:equivalentTo"} xref: UMLS:C1858361 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:604416", source="Orphanet:69126"} is_a: MONDO:0015135 ! primary immunodeficiency due to a genetic defect in innate immunity is_a: MONDO:0017954 {source="Orphanet:69126"} ! pyogenic autoinflammatory syndrome is_a: MONDO:0023603 ! hereditary disorder of connective tissue property_value: exactMatch DOID:0080519 property_value: exactMatch http://identifiers.org/mesh/C536253 property_value: exactMatch http://identifiers.org/snomedct/724015007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858361 property_value: exactMatch https://omim.org/entry/604416 property_value: exactMatch NCIT:C119055 property_value: exactMatch Orphanet:69126 [Term] id: MONDO:0011464 name: spinocerebellar ataxia type 11 def: "Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs." [Orphanet:98767] subset: ordo_disease {source="Orphanet:98767"} synonym: "SCA11" EXACT ABBREVIATION [MONDO:Lexical, OMIM:604432, Orphanet:98767] synonym: "spinocerebellar ataxia 11" RELATED [MONDO:Lexical, OMIM:604432] synonym: "spinocerebellar ataxia type 11" EXACT [MONDORULE:2, OMIM:604432] xref: DOID:0050961 {source="MONDO:equivalentTo"} xref: MESH:C565772 {source="MONDO:equivalentTo"} xref: OMIM:604432 {source="Orphanet:98767", source="DOID:0050961", source="MONDO:equivalentTo", source="Orphanet:98767/e"} xref: Orphanet:98767 {source="OMIM:604432", source="MONDO:equivalentTo"} xref: SCTID:719207000 {source="MONDO:equivalentTo"} xref: UMLS:C1858351 {source="OMIM:604432", source="Orphanet:98767", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4304886 {source="MONDO:equivalentObsolete"} is_a: MONDO:0019793 {source="Orphanet:98767"} ! autosomal dominant cerebellar ataxia type III property_value: exactMatch DOID:0050961 property_value: exactMatch http://identifiers.org/mesh/C565772 property_value: exactMatch http://identifiers.org/snomedct/719207000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858351 property_value: exactMatch https://omim.org/entry/604432 property_value: exactMatch Orphanet:98767 [Term] id: MONDO:0011466 name: distal myopathy, Welander type def: "Welander distal myopathy (WDM) is a distal myopathy, characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors." [Orphanet:603] subset: ordo_disease {source="Orphanet:603"} synonym: "distal myopathy, Swedish type" RELATED [GARD:0005552] synonym: "muscular dystrophy, distal, late-onset, autosomal dominant" RELATED [OMIM:604454] synonym: "myopathy, distal, Swedish" RELATED [OMIM:604454] synonym: "WDM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:604454, Orphanet:603] synonym: "Welander distal myopathy" RELATED [MONDO:Lexical, OMIM:604454] synonym: "Welander distal myopathy, Swedish type" RELATED [GARD:0005552] xref: OMIM:604454 {source="Orphanet:603", source="MONDO:equivalentTo", source="Orphanet:603/e"} xref: Orphanet:603 {source="OMIM:604454", source="MONDO:equivalentTo"} xref: UMLS:CN205368 {source="MONDO:equivalentTo"} is_a: MONDO:0016108 {source="Orphanet:603"} ! autosomal dominant distal myopathy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205368 property_value: exactMatch https://omim.org/entry/604454 property_value: exactMatch Orphanet:603 [Term] id: MONDO:0011468 name: hereditary motor and sensory neuropathy, Okinawa type def: "Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic." [Orphanet:90117] subset: ordo_disease {source="Orphanet:90117"} synonym: "hereditary motor and sensory neuropathy, proximal type" EXACT [OMIM:604484, Orphanet:90117] synonym: "hereditary motor and sensory neuropathy, proximal type, formerly" RELATED [OMIM:604484] synonym: "HMSNO" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604484] synonym: "HMSNP" EXACT ABBREVIATION [Orphanet:90117] synonym: "neuropathy, hereditary motor and sensory, Okinawa type" RELATED [MONDO:Lexical, OMIM:604484] xref: MESH:C535717 {source="Orphanet:90117/e", source="MONDO:equivalentTo", source="Orphanet:90117"} xref: OMIM:604484 {source="Orphanet:90117/e", source="MONDO:equivalentTo", source="Orphanet:90117"} xref: Orphanet:90117 {source="MONDO:equivalentTo", source="OMIM:604484"} is_a: MONDO:0002316 {source="DC-OMIM:604484"} ! motor peripheral neuropathy is_a: MONDO:0015360 {source="Orphanet:90117"} ! autosomal dominant hereditary axonal motor and sensory neuropathy property_value: exactMatch http://identifiers.org/mesh/C535717 property_value: exactMatch https://omim.org/entry/604484 property_value: exactMatch Orphanet:90117 [Term] id: MONDO:0011469 name: congenital amegakaryocytic thrombocytopenia def: "Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood." [Orphanet:3319] subset: gard_rare {source="GARD:0000640"} subset: ordo_disease {source="Orphanet:3319"} synonym: "amegakaryocytic thrombocytopenia, congenital" RELATED [MONDO:Lexical, OMIM:604498] synonym: "CAMT" EXACT ABBREVIATION [DOID:0090118, MONDO:Lexical, OMIM:604498, Orphanet:3319] synonym: "congenital amegakaryocytic thrombocytopenia" EXACT [] synonym: "congenital amegakaryocytic thrombocytopenic purpura" EXACT [DOID:0090118, Orphanet:3319] synonym: "thrombocytopenia congenital amegakaryocytic" RELATED [GARD:0000640] synonym: "thrombocytopenia, congenital amegakaryocytic" EXACT [OMIM:604498, OMIM:genemap2] xref: DOID:0090118 {source="MONDO:equivalentTo"} xref: MESH:C535982 {source="Orphanet:3319/e", source="MONDO:equivalentTo", source="Orphanet:3319", source="DOID:0090118"} xref: NCIT:C115207 {source="MONDO:equivalentTo"} xref: OMIM:604498 {source="Orphanet:3319/e", source="MONDO:equivalentTo", source="Orphanet:3319", source="DOID:0090118"} xref: Orphanet:3319 {source="OMIM:604498", source="MONDO:equivalentTo", source="DOID:0090118"} xref: SCTID:716336002 {source="MONDO:equivalentTo"} xref: UMLS:C1327915 {source="OMIM:604498", source="Orphanet:3319/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3319", source="DOID:0090118", source="NCIT:C115207"} is_a: MONDO:0000577 ! congenital anemia is_a: MONDO:0001713 {source="Orphanet:3319"} ! inherited aplastic anemia is_a: MONDO:0018796 {source="Orphanet:3319"} ! isolated constitutional thrombocytopenia property_value: exactMatch DOID:0090118 property_value: exactMatch http://identifiers.org/mesh/C535982 property_value: exactMatch http://identifiers.org/snomedct/716336002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1327915 property_value: exactMatch https://omim.org/entry/604498 property_value: exactMatch NCIT:C115207 property_value: exactMatch Orphanet:3319 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/640/congenital-amegakaryocytic-thrombocytopenia xsd:anyURI {source="GARD:0000640"} [Term] id: MONDO:0011472 name: epidermolysis bullosa simplex due to plakophilin deficiency def: "Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering." [Orphanet:158668] subset: ordo_disease {source="Orphanet:158668"} synonym: "ectodermal dysplasia - skin fragility syndrome" RELATED [GARD:0009705] synonym: "ectodermal dysplasia skin fragility syndrome" RELATED [GARD:0009705] synonym: "ectodermal dysplasia-skin fragility syndrome" EXACT [Orphanet:158668] synonym: "ectodermal dysplasia/skin fragility syndrome" RELATED [OMIM:604536] synonym: "McGrath syndrome" EXACT [Orphanet:158668] synonym: "Mcgrath syndrome" RELATED [OMIM:604536] xref: MESH:C536183 {source="MONDO:equivalentTo", source="Orphanet:158668", source="Orphanet:158668/e"} xref: OMIM:604536 {source="MONDO:equivalentTo", source="Orphanet:158668", source="Orphanet:158668/e"} xref: Orphanet:158668 {source="OMIM:604536", source="MONDO:equivalentTo"} xref: SCTID:716699004 {source="MONDO:equivalentTo"} xref: UMLS:C1858302 {source="OMIM:604536", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:158668", source="Orphanet:158668/e"} is_a: MONDO:0015550 {source="Orphanet:158668"} ! suprabasal epidermolysis bullosa simplex is_a: MONDO:0019287 {source="MESH:C536183", source="Orphanet:158668"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C536183 property_value: exactMatch http://identifiers.org/snomedct/716699004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858302 property_value: exactMatch https://omim.org/entry/604536 property_value: exactMatch Orphanet:158668 [Term] id: MONDO:0011475 name: Charcot-Marie-Tooth disease type 4B2 def: "Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported." [Orphanet:99956] subset: gard_rare {source="GARD:0009200"} subset: ordo_disease {source="Orphanet:99956"} synonym: "autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2" EXACT [DOID:0110190] synonym: "Charcot Marie Tooth disease type 4B2" RELATED [GARD:0009200] synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in SBF2" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease type 4B2" EXACT [] synonym: "Charcot-Marie-Tooth disease, type 4B2" RELATED [MONDO:Lexical, OMIM:604563] synonym: "Charcot-Marie-Tooth disease, type 4B2, with early-onset glaucoma" RELATED [OMIM:604563] synonym: "Charcot-Marie-Tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4B2" RELATED [OMIM:604563] synonym: "Charcot-Marie-Tooth neuropathy type 4B2" EXACT [DOID:0110190] synonym: "Charcot-Marie-Tooth neuropathy, type 4B2" RELATED [OMIM:604563] synonym: "Charcot-Marie-Tooth neuropathy, type 4B2, with early-onset glaucoma" RELATED [OMIM:604563] synonym: "CMT 4B2" RELATED [GARD:0009200] synonym: "CMT4B2" EXACT ABBREVIATION [DOID:0110190, MONDO:Lexical, OMIM:604563, Orphanet:99956] synonym: "SBF2 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110190 {source="MONDO:equivalentTo"} xref: MESH:C535421 {source="MONDO:equivalentTo", source="Orphanet:99956", source="Orphanet:99956/e"} xref: OMIM:604563 {source="DOID:0110190", source="MONDO:equivalentTo", source="Orphanet:99956", source="Orphanet:99956/e"} xref: Orphanet:99956 {source="DOID:0110190", source="MONDO:equivalentTo", source="OMIM:604563"} xref: SCTID:715800000 {source="MONDO:equivalentTo"} xref: UMLS:C1858278 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:99956", source="Orphanet:99956/e", source="OMIM:604563"} is_a: MONDO:0018995 {source="DOID:0110190", source="MONDO:Redundant", source="Orphanet:99956"} ! Charcot-Marie-Tooth disease type 4 property_value: exactMatch DOID:0110190 property_value: exactMatch http://identifiers.org/mesh/C535421 property_value: exactMatch http://identifiers.org/snomedct/715800000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858278 property_value: exactMatch https://omim.org/entry/604563 property_value: exactMatch Orphanet:99956 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9200/charcot-marie-tooth-disease-type-4b2 xsd:anyURI {source="GARD:0009200"} [Term] id: MONDO:0011476 name: MHC class I deficiency def: "Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections." [Orphanet:34592] subset: ordo_disease {source="Orphanet:34592"} synonym: "Bare lymphocyte syndrome type 1" EXACT [Orphanet:34592] synonym: "bare lymphocyte syndrome type I" EXACT [DOID:0060009] synonym: "Bare lymphocyte syndrome, type 1" RELATED [OMIM:604571] synonym: "BARE lymphocyte syndrome, type I" RELATED [OMIM:604571] synonym: "bare lymphocyte syndrome, type I, due to TAP2 deficiency" EXACT [OMIM:604571, OMIM:genemap2] synonym: "BLS type 1" RELATED [GARD:0008427] synonym: "Bls, type 1" RELATED [OMIM:604571] synonym: "BLS, type I" EXACT [DOID:0060009] synonym: "BLSI" EXACT ABBREVIATION [DOID:0060009] synonym: "HLA Class 1 deficiency" RELATED [OMIM:604571] synonym: "HLA CLASS I deficiency" EXACT [DOID:0060009] synonym: "immunodeficiency by defective expression of HLA class 1" EXACT [Orphanet:34592] synonym: "immunodeficiency by defective expression of HLA class type 1" EXACT [MONDORULE:1, Orphanet:34592] xref: DOID:0060009 {source="MONDO:equivalentTo"} xref: OMIM:604571 {source="MONDO:equivalentTo", source="Orphanet:34592", source="DOID:0060009", source="Orphanet:34592/e"} xref: Orphanet:34592 {source="MONDO:equivalentTo", source="OMIM:604571"} xref: SCTID:725136003 {source="MONDO:equivalentTo"} xref: UMLS:C1858266 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:34592", source="OMIM:604571"} is_a: MONDO:0015131 {source="https://orcid.org/0000-0001-5208-3432"} ! combined immunodeficiency property_value: exactMatch DOID:0060009 property_value: exactMatch http://identifiers.org/snomedct/725136003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858266 property_value: exactMatch https://omim.org/entry/604571 property_value: exactMatch Orphanet:34592 property_value: excluded_subClassOf MONDO:0015974 {source="DOID:0060009", source="https://github.com/monarch-initiative/mondo-build/issues/108"} property_value: excluded_subClassOf MONDO:0018814 {source="Orphanet:34592"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011481 name: craniosynostosis 2 def: "A form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal." [Orphanet:1541] subset: ordo_malformation_syndrome {source="Orphanet:1541"} synonym: "craniosynostosis 2" EXACT [MONDO:Lexical, OMIM:604757] synonym: "craniosynostosis type 2" EXACT [MONDORULE:1, OMIM:604757] synonym: "craniosynostosis Warman type" RELATED [GARD:0005538] synonym: "craniosynostosis, Warman type" EXACT [Orphanet:1541] synonym: "CRS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:604757] synonym: "MSX2-related craniosynostosis" EXACT [https://github.com/mhughes5, https://github.com/monarch-initiative/mondo/issues/1933] synonym: "Warman Mulliken Hayward syndrome" RELATED [GARD:0005538] synonym: "Warman-Mulliken-Hayward syndrome" EXACT [Orphanet:1541] xref: OMIM:604757 {source="Orphanet:1541", source="MONDO:equivalentTo", source="Orphanet:1541/e"} xref: Orphanet:1541 {source="MONDO:equivalentTo", source="OMIM:604757"} xref: SCTID:720817008 {source="MONDO:equivalentTo"} is_a: MONDO:0015338 {source="Orphanet:1541", source="PMID:31633310"} ! syndromic craniosynostosis property_value: exactMatch http://identifiers.org/snomedct/720817008 property_value: exactMatch https://omim.org/entry/604757 property_value: exactMatch Orphanet:1541 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0011484 name: catecholaminergic polymorphic ventricular tachycardia 1 def: "Polymorphic ventricular tachycardia induced by adrenergic stress. It is inherited in an autosomal dominant pattern and is caused by mutations in the ryanodine receptor 2 (RYR2) gene." [NCIT:C123414] synonym: "arrhythmogenic right ventricular cardiomyopathy 2" EXACT DEPRECATED [DOID:0110071, OMIM:600996] synonym: "arrhythmogenic right ventricular dysplasia 2" EXACT DEPRECATED [MONDO:0010975] synonym: "arrhythmogenic right ventricular dysplasia type 2" EXACT DEPRECATED [DOID:0110071, MONDORULE:1] synonym: "arrhythmogenic right ventricular dysplasia, familial, 2" RELATED DEPRECATED [MONDO:Lexical, OMIM:600996] synonym: "arrhythmogenic right ventricular dysplasia, familial, type 2" EXACT DEPRECATED [MONDORULE:1, OMIM:600996] synonym: "ARVC2" EXACT DEPRECATED [DOID:0110071] synonym: "ARVD2" EXACT DEPRECATED [DOID:0110071, MONDO:Lexical, OMIM:600996] synonym: "catecholaminergic polymorphic ventricular tachycardia 1" EXACT [] synonym: "catecholaminergic polymorphic ventricular tachycardia type 1" EXACT [DOID:0060675, MONDORULE:1] synonym: "CPVT1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604772] synonym: "CVPT1" EXACT ABBREVIATION [DOID:0060675] synonym: "familial arrhythmogenic right ventricular dysplasia 2" EXACT DEPRECATED [DOID:0110071] synonym: "familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in RYR2" EXACT [MONDO:design_pattern] synonym: "RYR2 familial isolated arrhythmogenic right ventricular dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "ventricular tachycardia, catecholaminergic polymorphic, 1" EXACT [OMIM:604772, OMIM:genemap2] synonym: "ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy" RELATED [MONDO:Lexical, OMIM:604772] synonym: "ventricular tachycardia, stress-induced polymorphic" RELATED [OMIM:604772] xref: DOID:0060675 {source="MONDO:equivalentTo"} xref: DOID:0110071 {source="MONDO:equivalentObsolete"} xref: ICD10CM:I47.2 {source="MONDO:relatedTo", source="DOID:0060675"} xref: MESH:C563409 {source="MONDO:equivalentTo"} xref: NCIT:C123414 {source="MONDO:equivalentTo"} xref: OMIM:600996 {source="DOID:0110071", source="MONDO:equivalentObsolete"} xref: OMIM:604772 {source="DOID:0060675", source="MONDO:equivalentTo"} xref: UMLS:C1832931 {source="MONDO:equivalentTo", source="OMIM:600996", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4053736 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C123414"} is_a: MONDO:0016342 {source="DOID:0110071", source="MESH:C563409", source="MONDO:Redundant", source="OMIM:600996", source="Orphanet:217656/btnt"} ! familial isolated arrhythmogenic right ventricular dysplasia is_a: MONDO:0017990 {source="DC-OMIM:604772", source="DOID:0060675", source="OMIM:604772"} ! catecholaminergic polymorphic ventricular tachycardia property_value: exactMatch DOID:0060675 property_value: exactMatch http://identifiers.org/mesh/C563409 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832931 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4053736 property_value: exactMatch https://omim.org/entry/604772 property_value: exactMatch NCIT:C123414 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6200 xsd:anyURI [Term] id: MONDO:0011486 name: congenital muscular dystrophy 1B def: "Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation." [Orphanet:98893] subset: ordo_disease {source="Orphanet:98893"} synonym: "CMD1B" EXACT ABBREVIATION [DOID:0110634, Orphanet:98893] synonym: "congenital muscular dystrophy type 1B" EXACT [DOID:0110634, MONDORULE:4] synonym: "MDC1B" EXACT ABBREVIATION [DOID:0110634, MONDO:Lexical, OMIM:604801, Orphanet:98893] synonym: "muscular dystrophy, congenital, 1B" RELATED [MONDO:Lexical, OMIM:604801] xref: DOID:0110634 {source="MONDO:equivalentTo"} xref: MESH:C565748 {source="MONDO:equivalentTo"} xref: OMIM:604801 {source="DOID:0110634", source="Orphanet:98893/e", source="MONDO:equivalentTo", source="Orphanet:98893"} xref: Orphanet:98893 {source="DOID:0110634", source="MONDO:equivalentTo", source="OMIM:604801"} xref: SCTID:764944006 {source="MONDO:equivalentTo"} xref: UMLS:C1858118 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:604801", source="Orphanet:98893"} is_a: MONDO:0019950 {source="DOID:0110634", source="Orphanet:98893"} ! congenital muscular dystrophy property_value: exactMatch DOID:0110634 property_value: exactMatch http://identifiers.org/mesh/C565748 property_value: exactMatch http://identifiers.org/snomedct/764944006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858118 property_value: exactMatch https://omim.org/entry/604801 property_value: exactMatch Orphanet:98893 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0011487 name: Huntington disease-like 3 def: "Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy." [Orphanet:157946] subset: ordo_disease {source="Orphanet:157946"} synonym: "HDL3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:604802, Orphanet:157946] synonym: "Huntington disease-like 3" EXACT [MONDO:Lexical, OMIM:604802] synonym: "Huntington disease-like neurodegenerative disorder, autosomal recessive" RELATED [OMIM:604802] synonym: "Huntington disease-like type 3" EXACT [MONDORULE:1, Orphanet:157946] xref: MESH:C565747 {source="MONDO:equivalentTo"} xref: OMIM:604802 {source="Orphanet:157946/e", source="MONDO:equivalentTo", source="Orphanet:157946"} xref: Orphanet:157946 {source="MONDO:equivalentTo", source="OMIM:604802"} xref: UMLS:C1858114 {source="MONDO:equivalentTo", source="OMIM:604802", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:157946"} is_a: EFO:0004280 ! movement disorder is_a: MONDO:0015548 {source="Orphanet:157946"} ! Huntington disease-like syndrome relationship: disease_arises_from_feature EFO:0005772 ! neurodegenerative disease relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch http://identifiers.org/mesh/C565747 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858114 property_value: exactMatch https://omim.org/entry/604802 property_value: exactMatch Orphanet:157946 [Term] id: MONDO:0011489 name: hereditary spastic paraplegia 12 def: "Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus." [Orphanet:100993] subset: ordo_disease {source="Orphanet:100993"} synonym: "autosomal dominant spastic paraplegia 12" EXACT [DOID:0110765] synonym: "autosomal dominant spastic paraplegia type 12" EXACT [DOID:0110765] synonym: "hereditary spastic paraplegia caused by mutation in RTN2" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 12" EXACT [DOID:0110765, MONDORULE:2] synonym: "RTN2 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "spastic paraplegia 12" RELATED [GARD:0009586] synonym: "spastic paraplegia 12, autosomal dominant" RELATED [MONDO:Lexical, OMIM:604805] synonym: "SPG12" EXACT ABBREVIATION [DOID:0110765, MONDO:Lexical, OMIM:604805, Orphanet:100993] xref: DOID:0110765 {source="MONDO:equivalentTo"} xref: MESH:C537484 {source="Orphanet:100993", source="MONDO:equivalentTo", source="Orphanet:100993/e"} xref: OMIM:604805 {source="DOID:0110765", source="Orphanet:100993", source="MONDO:equivalentTo", source="Orphanet:100993/e"} xref: Orphanet:100993 {source="DOID:0110765", source="MONDO:equivalentTo", source="OMIM:604805"} xref: SCTID:763374004 {source="MONDO:equivalentTo"} xref: UMLS:C1858106 {source="Orphanet:100993", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:604805", source="Orphanet:100993/e"} is_a: MONDO:0015088 {source="Orphanet:100993"} ! autosomal dominant pure spastic paraplegia property_value: exactMatch DOID:0110765 property_value: exactMatch http://identifiers.org/mesh/C537484 property_value: exactMatch http://identifiers.org/snomedct/763374004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858106 property_value: exactMatch https://omim.org/entry/604805 property_value: exactMatch Orphanet:100993 [Term] id: MONDO:0011493 name: Stickler syndrome type 2 def: "Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21)." [Orphanet:828] subset: gard_rare {source="GARD:0005020"} subset: ordo_clinical_subtype {source="Orphanet:90654"} synonym: "COL11A1 Stickler syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Stickler syndrome caused by mutation in COL11A1" EXACT [MONDO:design_pattern] synonym: "Stickler syndrome type II" EXACT [NCIT:C74985] synonym: "Stickler syndrome, beaded vitreous type" RELATED [OMIM:604841] synonym: "Stickler syndrome, type 2" RELATED [GARD:0005020] synonym: "STICKLER syndrome, type II" RELATED [MONDO:Lexical, OMIM:604841] synonym: "Stickler syndrome, vitreous type 2" RELATED [OMIM:604841] synonym: "STL 2" RELATED [GARD:0005020] synonym: "STL2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604841] xref: DOID:0080675 {source="MONDO:equivalentTo"} xref: MESH:C537493 {source="Orphanet:90654/e", source="MONDO:equivalentTo", source="Orphanet:90654"} xref: NCIT:C74985 {source="MONDO:equivalentTo"} xref: OMIM:604841 {source="Orphanet:90654/e", source="MONDO:equivalentTo", source="Orphanet:90654"} xref: Orphanet:90654 {source="OMIM:604841", source="MONDO:equivalentTo"} xref: UMLS:C1858084 {source="Orphanet:90654/e", source="OMIM:604841", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:90654", source="NCIT:C74985"} is_a: MONDO:0019354 {source="DC-OMIM:604841", source="MONDO:Redundant", source="NCIT:C74985", source="OMIM:604841", source="Orphanet:90654"} ! Stickler syndrome is_a: MONDO:0800087 {source="PMID:31633310"} ! type 11 collagen-related bone disorder property_value: exactMatch DOID:0080675 property_value: exactMatch http://identifiers.org/mesh/C537493 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858084 property_value: exactMatch https://omim.org/entry/604841 property_value: exactMatch NCIT:C74985 property_value: exactMatch Orphanet:90654 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5020/stickler-syndrome-type-2 xsd:anyURI {source="GARD:0005020"} [Term] id: MONDO:0011496 name: mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis def: "Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk." [Orphanet:93279] subset: ordo_disease {source="Orphanet:93279"} synonym: "Namaqualand hip dysplasia" RELATED [OMIM:604864] synonym: "OSCDP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604864] synonym: "osteoarthritis with mild chondrodysplasia" RELATED [MONDO:Lexical, OMIM:604864] xref: ICD9:755.63 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C565740 {source="MONDO:equivalentTo"} xref: OMIM:604864 {source="MONDO:equivalentTo", source="Orphanet:93279", source="Orphanet:93279/e"} xref: Orphanet:93279 {source="OMIM:604864", source="MONDO:equivalentTo"} xref: SCTID:254064009 {source="MONDO:equivalentTo"} xref: UMLS:C1858079 {source="OMIM:604864", source="MONDO:equivalentObsolete", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0016761 {source="Orphanet:93279"} ! spondyloepiphyseal dysplasia is_a: MONDO:0022800 {source="Orphanet:93279", source="PMID:31633310"} ! type 2 collagenopathy property_value: exactMatch http://identifiers.org/mesh/C565740 property_value: exactMatch http://identifiers.org/snomedct/254064009 property_value: exactMatch https://omim.org/entry/604864 property_value: exactMatch Orphanet:93279 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0011497 name: hereditary North American Indian childhood cirrhosis def: "Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence." [Orphanet:168583] subset: ordo_clinical_subtype {source="Orphanet:168583"} synonym: "NAIC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604901] synonym: "NORTH American Indian childhood cirrhosis" RELATED [MONDO:Lexical, OMIM:604901] xref: MESH:C565737 {source="MONDO:equivalentTo"} xref: OMIM:604901 {source="Orphanet:168583/e", source="MONDO:equivalentTo", source="Orphanet:168583"} xref: Orphanet:168583 {source="MONDO:equivalentTo", source="OMIM:604901"} xref: SCTID:699189004 {source="MONDO:equivalentTo"} xref: UMLS:C1858051 {source="MONDO:equivalentTo", source="OMIM:604901", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:168583"} is_a: MONDO:0015762 {source="Orphanet:168583"} ! progressive familial intrahepatic cholestasis property_value: exactMatch http://identifiers.org/mesh/C565737 property_value: exactMatch http://identifiers.org/snomedct/699189004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858051 property_value: exactMatch https://omim.org/entry/604901 property_value: exactMatch Orphanet:168583 [Term] id: MONDO:0011499 name: Okamoto syndrome def: "Okamoto syndrome is characterized by congenital hydronephrosis, intellectual deficit, growth retardation, cleft palate, generalized hypotonia and a characteristic face. Cardiac anomalies have also been reported. To date, 6 cases have been reported." [Orphanet:2729] comment: Reason: duplicate. This will be merged with MONDO:0014700 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation subset: gard_rare {source="GARD:0004064"} subset: obsoletion_candidate subset: ordo_malformation_syndrome {source="Orphanet:2729"} synonym: "congenital hydronephrosis with cleft palate, characteristic facies, hypotonia, and intellectual disability" RELATED [GARD:0004064] synonym: "congenital hydronephrosis with cleft palate, characteristic facies, hypotonia, and mental retardation" RELATED DEPRECATED [GARD:0004064] synonym: "hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and intellectual disability" RELATED [OMIM:604916] synonym: "hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation" RELATED DEPRECATED [OMIM:604916] synonym: "Okamoto syndrome" EXACT [OMIM:604916] xref: MESH:C565736 {source="MONDO:equivalentTo"} xref: OMIM:604916 {source="Orphanet:2729/e", source="MONDO:equivalentTo", source="Orphanet:2729"} xref: Orphanet:2729 {source="MONDO:equivalentTo", source="OMIM:604916"} xref: SCTID:722065002 {source="MONDO:equivalentTo"} xref: UMLS:C1858043 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:604916"} is_a: MONDO:0015159 {source="Orphanet:2729"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C565736 property_value: exactMatch http://identifiers.org/snomedct/722065002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858043 property_value: exactMatch https://omim.org/entry/604916 property_value: exactMatch Orphanet:2729 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2729"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6335 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4064/okamoto-syndrome xsd:anyURI {source="GARD:0004064"} [Term] id: MONDO:0011500 name: Becker nevus syndrome def: "Becker nevus syndrome is characterized by the presence of a Becker nevus in association withunderdevelopment (hypoplasia)of the breast or other skin-related, muscular, or skeletal defects, all of which usually involve the same side of the bodyas the nevus (ipsilateral). Specific signs and symptoms in addition to the nevus may include ipsilateral breast hypoplasia;skeletal abnormalities such ashypoplasia of the shoulder girdle, scoliosis, fused ribs, and ipsilateral shortness of the arm; and several other features. Thecondition is thought to be sporadic (occurring in individuals with no history of the condition in the family). Treatment varies depending upon the specific symptoms present and the extent of the condition in the affected individual." [https://rarediseases.info.nih.gov/diseases/3856/becker-nevus-syndrome] subset: gard_rare {source="GARD:0003856"} subset: ordo_disease {source="Orphanet:64755"} synonym: "Becker nevus syndrome" EXACT [OMIM:604919] synonym: "hairy epidermal nevus syndrome" RELATED [GARD:0003856] synonym: "pigmentary hairy epidermal nevus" EXACT [Orphanet:64755] xref: MESH:C565735 {source="MONDO:equivalentTo"} xref: OMIM:604919 {source="Orphanet:64755", source="MONDO:equivalentTo", source="Orphanet:64755/e"} xref: Orphanet:64755 {source="MONDO:equivalentTo", source="OMIM:604919"} xref: UMLS:C1858042 {source="Orphanet:64755", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:604919"} is_a: EFO:0009675 {source="Orphanet:64755"} ! melanocytic nevus is_a: MONDO:0000383 ! benign reproductive system neoplasm is_a: MONDO:0000620 ! breast benign neoplasm is_a: MONDO:0015853 {source="Orphanet:64755"} ! deficient breast volume or number is_a: MONDO:0015950 {source="Orphanet:64755"} ! inherited skin tumor is_a: MONDO:0019755 ! developmental defect during embryogenesis is_a: MONDO:0021148 ! female reproductive system neoplasm property_value: exactMatch http://identifiers.org/mesh/C565735 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858042 property_value: exactMatch https://omim.org/entry/604919 property_value: exactMatch Orphanet:64755 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3856/becker-nevus-syndrome xsd:anyURI {source="GARD:0003856"} [Term] id: MONDO:0011501 name: wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia def: "Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999." [Orphanet:166277] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:166277"} synonym: "cortical defects wormian bones and dentinogenesis imperfecta" RELATED [GARD:0010290] synonym: "cortical defects, WORMIAN bones, and dentinogenesis imperfecta" RELATED [OMIM:604922] synonym: "Suarez-Stickler syndrome" EXACT [Orphanet:166277] xref: MESH:C565734 {source="MONDO:equivalentTo"} xref: OMIM:604922 {source="Orphanet:166277", source="MONDO:equivalentTo", source="Orphanet:166277/e", source="GARD:0010290"} xref: Orphanet:166277 {source="MONDO:equivalentTo", source="OMIM:604922"} xref: UMLS:C1858032 {source="Orphanet:166277", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:604922", source="GARD:0010290"} is_a: EFO:0000508 {source="OMIM:604922"} ! genetic disorder is_a: EFO:0009676 {source="Orphanet:166277", source="https://orcid.org/0000-0001-5208-3432"} ! musculoskeletal system disease property_value: exactMatch http://identifiers.org/mesh/C565734 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858032 property_value: exactMatch https://omim.org/entry/604922 property_value: exactMatch Orphanet:166277 property_value: excluded_subClassOf MONDO:0015877 {source="Orphanet:166277"} property_value: excluded_subClassOf MONDO:0019704 {source="Orphanet:166277"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10290/cortical-defects-wormian-bones-and-dentinogenesis-imperfecta xsd:anyURI {source="GARD:0010290"} [Term] id: MONDO:0011504 name: NDE1-related microhydranencephaly def: "NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae." [Orphanet:443162] subset: ordo_malformation_syndrome {source="Orphanet:443162"} synonym: "hydranencephaly and microcephaly" RELATED [OMIM:605013] synonym: "MHAC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605013, Orphanet:443162] synonym: "microhydranencephaly" RELATED [MONDO:Lexical, OMIM:605013] xref: MESH:C537555 {source="MONDO:equivalentTo"} xref: OMIM:605013 {source="Orphanet:443162/e", source="MONDO:equivalentTo", source="Orphanet:443162"} xref: Orphanet:443162 {source="MONDO:equivalentTo"} xref: UMLS:C1857977 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:605013"} is_a: MONDO:0015660 ! sporadic fetal brain disruption sequence is_a: MONDO:0700116 {source="https://www.clinicalgenome.org/affiliation/40020/"} ! microcephaly with lissencephaly and/or hydranencephaly property_value: exactMatch http://identifiers.org/mesh/C537555 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857977 property_value: exactMatch https://omim.org/entry/605013 property_value: exactMatch Orphanet:443162 [Term] id: MONDO:0011506 name: familial infantile myoclonic epilepsy subset: ordo_disease {source="Orphanet:352582"} synonym: "Eim" RELATED [OMIM:605021] synonym: "familial infantile myoclonus epilepsy" EXACT [Orphanet:352582] synonym: "FIME" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605021, Orphanet:352582] synonym: "myoclonic epilepsy, familial infantile" RELATED [MONDO:Lexical, OMIM:605021] synonym: "myoclonic epilepsy, infantile, familial" EXACT [OMIM:605021, OMIM:genemap2] xref: OMIM:605021 {source="Orphanet:352582", source="MONDO:equivalentTo", source="Orphanet:352582/e"} xref: Orphanet:352582 {source="MONDO:equivalentTo", source="OMIM:605021"} xref: UMLS:C0917800 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:605021"} is_a: MONDO:0016022 {source="DC-OMIM:605021"} ! early myoclonic encephalopathy is_a: MONDO:0019486 ! myoclonic epilepsy of infancy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0917800 property_value: exactMatch https://omim.org/entry/605021 property_value: exactMatch Orphanet:352582 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011510 name: Bohring-Opitz syndrome def: "Bohring-Opitz syndrome is characterized by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported." [Orphanet:97297] subset: gard_rare {source="GARD:0010140"} subset: ordo_malformation_syndrome {source="Orphanet:97297"} synonym: "Bohring syndrome" EXACT [OMIM:605039, Orphanet:97297] synonym: "BOHRING-Opitz syndrome" RELATED [OMIM:605039] synonym: "Bohring-Opitz syndrome" EXACT [MONDO:Lexical, OMIM:605039] synonym: "BOPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605039] synonym: "Bos syndrome" EXACT [Orphanet:97297] synonym: "C-like syndrome" EXACT [OMIM:605039, Orphanet:97297] synonym: "Oberklaid-Danks syndrome" EXACT [Orphanet:97297] synonym: "Opitz trigonocephaly-like syndrome" EXACT [OMIM:605039, Orphanet:97297] xref: MESH:C537419 {source="MONDO:equivalentTo"} xref: NCIT:C131533 {source="MONDO:equivalentTo"} xref: OMIM:605039 {source="Orphanet:97297/e", source="MONDO:equivalentTo", source="Orphanet:97297"} xref: Orphanet:97297 {source="OMIM:605039", source="MONDO:equivalentTo"} xref: SCTID:720565000 {source="MONDO:equivalentTo"} xref: UMLS:C0796232 {source="OMIM:605039", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C131533", source="Orphanet:97297"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:97297", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:97297"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C537419 property_value: exactMatch http://identifiers.org/snomedct/720565000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796232 property_value: exactMatch https://omim.org/entry/605039 property_value: exactMatch NCIT:C131533 property_value: exactMatch Orphanet:97297 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10140/bohring-opitz-syndrome xsd:anyURI {source="GARD:0010140"} [Term] id: MONDO:0011512 name: Brooke-Spiegler syndrome def: "Brooke-Spiegler syndrome (BSS) is an inherited predisposition syndrome presenting with skin appendage tumors, namely cylindromas, spiradenomas and trichoepitheliomas. A minority of patients can also get major and minor salivary glands neoplasms, usually membranous basal cell adenoma." [Orphanet:79493] comment: Some consider Brooke-Spiegler syndrome (BSS), familial cylindromatosis (FC), and multiple familial trichoepithelioma (MFT) as phenotypic variations of a single defect, see PMID:16922728 subset: ordo_disease {source="Orphanet:79493"} synonym: "Brooke-Spiegler syndrome" EXACT [MONDO:Lexical, OMIM:605041] synonym: "BRSS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605041] synonym: "Bss" RELATED [OMIM:605041] synonym: "CYLD cutaneous syndrome" EXACT [Orphanet:79493] synonym: "Spiegler-Brooke syndrome" RELATED [OMIM:605041] xref: DOID:0050693 {source="MONDO:equivalentTo"} xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:605041 {source="DOID:0050693", source="MONDO:equivalentTo", source="Orphanet:79493", source="Orphanet:79493/e"} xref: Orphanet:79493 {source="MONDO:equivalentTo", source="OMIM:605041"} xref: SCTID:703531009 {source="MONDO:equivalentTo"} xref: UMLS:C1857941 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:605041", source="Orphanet:79493", source="Orphanet:79493/e"} is_a: MONDO:0000426 {source="DOID:0050693", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0015950 {source="Orphanet:79493"} ! inherited skin tumor is_a: MONDO:0020180 {source="Orphanet:79493"} ! palpebral piliary tumor property_value: exactMatch DOID:0050693 property_value: exactMatch http://identifiers.org/snomedct/703531009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857941 property_value: exactMatch https://omim.org/entry/605041 property_value: exactMatch Orphanet:79493 property_value: excluded_subClassOf MONDO:0019300 {source="Orphanet:79493"} [Term] id: MONDO:0011517 name: pseudohyperaldosteronism type 2 def: "Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery." [Orphanet:88660] subset: ordo_disease {source="Orphanet:88660"} synonym: "early-onset hypertension with exacerbation in pregnancy" EXACT [Orphanet:88660] synonym: "hypertension due to gain-of-function mutations in the mineralocorticoid receptor" EXACT [Orphanet:88660] synonym: "hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy" EXACT [OMIM:605115, OMIM:genemap2] synonym: "hypertension, early-onset, autosomal dominant, with Severe exacerbation in pregnancy" RELATED [OMIM:605115] synonym: "hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy" RELATED [OMIM:605115] xref: MESH:C565359 {source="MONDO:equivalentTo"} xref: OMIM:605115 {source="Orphanet:88660/e", source="MONDO:equivalentTo", source="Orphanet:88660"} xref: Orphanet:88660 {source="OMIM:605115", source="MONDO:equivalentTo"} xref: SCTID:766937004 {source="MONDO:equivalentTo"} xref: UMLS:C1854631 {source="OMIM:605115", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:88660"} is_a: EFO:0009682 {source="Orphanet:88660"} ! pregnancy disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0015582"} ! rare property_value: exactMatch http://identifiers.org/mesh/C565359 property_value: exactMatch http://identifiers.org/snomedct/766937004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854631 property_value: exactMatch https://omim.org/entry/605115 property_value: exactMatch Orphanet:88660 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011518 name: Wiedemann-Steiner syndrome def: "Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language." [https://rarediseases.info.nih.gov/diseases/5565/wiedemann-steiner-syndrome] subset: gard_rare {source="GARD:0005565"} subset: ordo_malformation_syndrome {source="Orphanet:319182"} synonym: "A syndrome of abnormal facies, short stature, and psychomotor retardation" RELATED [GARD:0005565] synonym: "hairy elbows, short stature, Facial Dysmorphism, and developmental delay" RELATED [OMIM:605130] synonym: "hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome" EXACT [Orphanet:319182] synonym: "WDSTS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605130] synonym: "Wiedemann Grosse Dibbern syndrome" RELATED [GARD:0005565] synonym: "Wiedemann-Steiner syndrome" EXACT [MONDO:Lexical, OMIM:605130] xref: MESH:C536704 {source="MONDO:equivalentTo"} xref: OMIM:605130 {source="Orphanet:319182", source="MONDO:equivalentTo", source="Orphanet:319182/e"} xref: Orphanet:319182 {source="MONDO:equivalentTo", source="OMIM:605130"} is_a: MONDO:0015159 {source="Orphanet:319182"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C536704 property_value: exactMatch https://omim.org/entry/605130 property_value: exactMatch Orphanet:319182 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:319182"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5565/wiedemann-steiner-syndrome xsd:anyURI {source="GARD:0005565"} [Term] id: MONDO:0011522 name: hereditary spastic paraplegia 14 def: "A hereditary spastic paraplegia that has material basis in variation in the chromosome region 3q27-q28." [DOID:0110767, PMID:10877981] subset: ordo_disease {source="Orphanet:100995"} synonym: "autosomal recessive spastic paraplegia 14" EXACT [DOID:0110767] synonym: "autosomal recessive spastic paraplegia type 14" EXACT [DOID:0110767] synonym: "hereditary spastic paraplegia type 14" EXACT [DOID:0110767, MONDORULE:2] synonym: "spastic paraplegia 14" EXACT [GARD:0009589] synonym: "spastic paraplegia 14, autosomal recessive" EXACT [MONDO:Lexical, OMIM:605229] synonym: "SPG14" EXACT ABBREVIATION [DOID:0110767, MONDO:Lexical, OMIM:605229, Orphanet:100995] xref: DOID:0110767 {source="MONDO:equivalentTo"} xref: MESH:C537486 {source="MONDO:equivalentTo", source="Orphanet:100995", source="Orphanet:100995/e"} xref: OMIM:605229 {source="DOID:0110767", source="MONDO:equivalentTo", source="Orphanet:100995", source="Orphanet:100995/e"} xref: Orphanet:100995 {source="DOID:0110767", source="OMIM:605229", source="MONDO:equivalentTo"} xref: UMLS:C1854568 {source="OMIM:605229", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:100995", source="Orphanet:100995/e"} is_a: MONDO:0017915 {source="Orphanet:100995"} ! pure or complex autosomal recessive spastic paraplegia property_value: exactMatch DOID:0110767 property_value: exactMatch http://identifiers.org/mesh/C537486 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854568 property_value: exactMatch https://omim.org/entry/605229 property_value: exactMatch Orphanet:100995 [Term] id: MONDO:0011524 name: Dianzani autoimmune lymphoproliferative disease def: "Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly." [Orphanet:275523] subset: ordo_disease {source="Orphanet:275523"} synonym: "autoimmune lymphoproliferative syndrome without FAS mutations" EXACT [GARD:0009797] synonym: "DALD" EXACT ABBREVIATION [OMIM:605233, Orphanet:275523] synonym: "Dianzani autoimmune lymphoproliferative disease" EXACT [OMIM:605233] synonym: "Dianzani autoimmune lymphoproliferative syndrome" EXACT [GARD:0009797] synonym: "Dianzani form of autoimmune lymphoproliferative disease" EXACT [GARD:0009797] xref: MESH:C535950 {source="MONDO:equivalentTo"} xref: OMIM:605233 {source="MONDO:equivalentTo", source="Orphanet:275523", source="Orphanet:275523/e"} xref: Orphanet:275523 {source="MONDO:equivalentTo", source="OMIM:605233"} xref: SCTID:721093000 {source="MONDO:equivalentTo"} xref: UMLS:C2931071 {source="MONDO:equivalentTo", source="Orphanet:275523", source="OMIM:605233", source="Orphanet:275523/e"} is_a: MONDO:0016537 {source="MESH:C535950/inferred", source="Orphanet:275523"} ! lymphoproliferative syndrome property_value: exactMatch http://identifiers.org/mesh/C535950 property_value: exactMatch http://identifiers.org/snomedct/721093000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931071 property_value: exactMatch https://omim.org/entry/605233 property_value: exactMatch Orphanet:275523 [Term] id: MONDO:0011527 name: Charcot-Marie-Tooth disease type 4E def: "Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity." [Orphanet:99951] comment: Not part of the OMIM series 118220 but maybe it should be? Alternate titles CHARCOT-MARIE-Tooth DISEASE, TYPE 4E; CMT4E and CHARCOT-MARIE-Tooth NEUROPATHY, TYPE 4E. {source="OMIM:605253"} subset: gard_rare subset: ordo_disease {source="Orphanet:99951"} synonym: "autosomal recessive congenital hypomyelinating neuropathy" EXACT [GARD:0006170, Orphanet:99951] synonym: "autosomal recessive congenital hypomyelinating or amyelinating neuropathy" EXACT [DOID:0110195] synonym: "Charcot Marie Tooth disease type 4E" RELATED [GARD:0009203] synonym: "Charcot-Marie-Tooth disease type 4E" EXACT [GARD:0006170] synonym: "Charcot-Marie-Tooth disease, type 4E" RELATED [OMIM:605253] synonym: "Charcot-Marie-Tooth neuropathy type 4E" EXACT [DOID:0110195] synonym: "Charcot-Marie-Tooth neuropathy, type 4E" RELATED [OMIM:605253] synonym: "CHN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605253] synonym: "CHN1" RELATED ABBREVIATION [OMIM:605253] synonym: "CMT 4E" RELATED [GARD:0009203] synonym: "CMT4E" EXACT ABBREVIATION [DOID:0110195, GARD:0006170, Orphanet:99951] synonym: "congenital hypomyelinating neuropathy (CHN)" RELATED [GARD:0009203] synonym: "congenital hypomyelination neuropathy" RELATED [GARD:0006170] synonym: "hypomyelinating neuropathy, congenital, 1" EXACT [OMIM:605253, OMIM:genemap2] synonym: "hypomyelination, Severe congenital" RELATED [OMIM:605253] synonym: "neuropathy, congenital hypomyelinating" RELATED [GARD:0009203] synonym: "neuropathy, congenital hypomyelinating or AMYELINATING, autosomal recessive" RELATED [MONDO:Lexical, OMIM:605253] synonym: "neuropathy, congenital hypomyelinating, 1" EXACT [DOID:0110195] synonym: "NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE" RELATED [OMIM:605253] synonym: "neuropathy, congenital hypomyelinating, autosomal dominant" RELATED [OMIM:605253] xref: DOID:0110195 {source="MONDO:equivalentTo"} xref: MESH:C535301 {source="Orphanet:99951", source="MONDO:equivalentTo", source="Orphanet:99951/e"} xref: OMIM:605253 {source="Orphanet:99951", source="GARD:0006170", source="MONDO:equivalentTo", source="Orphanet:99951/e", source="DOID:0110195"} xref: Orphanet:99951 {source="GARD:0006170", source="MONDO:equivalentTo", source="DOID:0110195", source="OMIM:605253"} xref: SCTID:763135001 {source="MONDO:equivalentTo"} is_a: MONDO:0018995 {source="DOID:0110195", source="Orphanet:99951"} ! Charcot-Marie-Tooth disease type 4 is_a: MONDO:0033352 {source="OMIM:605253"} ! neuropathy, congenital hypomelinating property_value: exactMatch DOID:0110195 property_value: exactMatch http://identifiers.org/mesh/C535301 property_value: exactMatch http://identifiers.org/snomedct/763135001 property_value: exactMatch https://omim.org/entry/605253 property_value: exactMatch Orphanet:99951 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6170/congenital-hypomyelination-neuropathy xsd:anyURI {source="GARD:0006170"} [Term] id: MONDO:0011528 name: hyper-IgM syndrome type 2 def: "A hyper-IgM syndrome characterized by the absence of immunoglobulin class switch recombination, the lack of immunoglobulin somatic hypermutations, and lymph node hyperplasia caused by the presence of giant germinal centers." [Wikipedia:Hyper-IgM_syndrome_type_2] subset: gard_rare {source="GARD:0010578"} subset: ordo_clinical_subtype {source="Orphanet:101089"} synonym: "Activation-induced cytidine deaminase deficiency" EXACT [Orphanet:101089] synonym: "activation-induced cytidine deaminase deficiency" EXACT [DOID:0060758] synonym: "AICDA hyper-IgM syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "aid deficiency" EXACT [DOID:0060758, Orphanet:101089] synonym: "HIGM2" EXACT ABBREVIATION [DOID:0060758, MONDO:Lexical, OMIM:605258, Orphanet:101089] synonym: "hyper IgM syndrome 2" RELATED [GARD:0010578] synonym: "hyper-IgM syndrome 2" RELATED [OMIM:605258] synonym: "hyper-IgM syndrome caused by mutation in AICDA" EXACT [MONDO:design_pattern] synonym: "hyper-IgM syndrome type 2" EXACT [DOID:0060758] synonym: "immunodeficiency with hyper IgM type 2" RELATED [GARD:0010578] synonym: "immunodeficiency with hyper-IgM type 2" RELATED [DOID:0060758] synonym: "immunodeficiency with hyper-IgM, type 2" RELATED [MONDO:Lexical, OMIM:605258] xref: DOID:0060758 {source="MONDO:equivalentTo"} xref: NCIT:C129074 {source="MONDO:equivalentTo"} xref: OMIM:605258 {source="Orphanet:101089", source="MONDO:equivalentTo", source="Orphanet:101089/e", source="DOID:0060758"} xref: Orphanet:101089 {source="OMIM:605258", source="MONDO:equivalentTo", source="DOID:0060758"} xref: SCTID:403836001 {source="MONDO:cjm", source="MONDO:equivalentTo"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0015976 {source="Orphanet:101089", source="PMID:11007475"} ! hyper-IgM syndrome without susceptibility to opportunistic infections property_value: exactMatch DOID:0060758 property_value: exactMatch http://identifiers.org/snomedct/403836001 property_value: exactMatch https://omim.org/entry/605258 property_value: exactMatch NCIT:C129074 property_value: exactMatch Orphanet:101089 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10578/immunodeficiency-with-hyper-igm-type-2 xsd:anyURI {source="GARD:0010578"} [Term] id: MONDO:0011529 name: spinocerebellar ataxia type 13 def: "Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." [Orphanet:98768] subset: ordo_disease {source="Orphanet:98768"} synonym: "autosomal dominant cerebellar ataxia with intellectual disability" RELATED [GARD:0009611] synonym: "autosomal dominant cerebellar ataxia with mental retardation" RELATED DEPRECATED [GARD:0009611] synonym: "cerebellar ataxia, autosomal dominant with intellectual disability" RELATED [GARD:0009611] synonym: "cerebellar ataxia, autosomal dominant with mental retardation" RELATED DEPRECATED [GARD:0009611] synonym: "SCA13" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605259, Orphanet:98768] synonym: "spinocerebellar ataxia 13" RELATED [MONDO:Lexical, OMIM:605259] synonym: "spinocerebellar ataxia type 13" EXACT [MONDORULE:2, OMIM:605259] xref: DOID:0050963 {source="MONDO:equivalentTo"} xref: MESH:C537195 {source="MONDO:equivalentTo", source="Orphanet:98768", source="Orphanet:98768/e"} xref: OMIM:605259 {source="MONDO:equivalentTo", source="DOID:0050963", source="Orphanet:98768", source="Orphanet:98768/e"} xref: Orphanet:98768 {source="OMIM:605259", source="MONDO:equivalentTo"} xref: SCTID:719209002 {source="MONDO:equivalentTo"} xref: UMLS:C1854488 {source="OMIM:605259", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:98768", source="Orphanet:98768/e"} xref: UMLS:C4304884 {source="MONDO:equivalentObsolete"} is_a: MONDO:0019792 {source="Orphanet:98768"} ! autosomal dominant cerebellar ataxia type I property_value: exactMatch DOID:0050963 property_value: exactMatch http://identifiers.org/mesh/C537195 property_value: exactMatch http://identifiers.org/snomedct/719209002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854488 property_value: exactMatch https://omim.org/entry/605259 property_value: exactMatch Orphanet:98768 [Term] id: MONDO:0011530 name: mesomelic dysplasia, Savarirayan type def: "Mesomelic dysplasia, Savarirayan type is characterized by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported." [Orphanet:85170] subset: gard_rare {source="GARD:0010584"} subset: ordo_malformation_syndrome {source="Orphanet:85170"} synonym: "mesomelic dysplasia Savarirayan type" RELATED [GARD:0010584] synonym: "mesomelic dysplasia with absent fibulas and triangular tibias" EXACT [OMIM:605274, Orphanet:85170] synonym: "mesomelic dysplasia, Savarirayan type" EXACT [OMIM:605274] synonym: "triangular tibia and fibular aplasia" RELATED [GARD:0010584] synonym: "triangular tibia-fibular aplasia syndrome" EXACT [Orphanet:85170] xref: MESH:C565349 {source="MONDO:equivalentTo"} xref: OMIM:605274 {source="MONDO:equivalentTo", source="Orphanet:85170", source="Orphanet:85170/e"} xref: Orphanet:85170 {source="MONDO:equivalentTo", source="OMIM:605274"} xref: SCTID:715652002 {source="MONDO:equivalentTo"} xref: UMLS:C1854470 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:85170", source="OMIM:605274"} is_a: MONDO:0019697 {source="Orphanet:85170", source="PMID:31633310"} ! mesomelic and rhizo-mesomelic dysplasia property_value: exactMatch http://identifiers.org/mesh/C565349 property_value: exactMatch http://identifiers.org/snomedct/715652002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854470 property_value: exactMatch https://omim.org/entry/605274 property_value: exactMatch Orphanet:85170 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10584/mesomelic-dysplasia-savarirayan-type xsd:anyURI {source="GARD:0010584"} [Term] id: MONDO:0011532 name: hereditary spastic paraplegia 13 def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the HSPD1 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:100994"} synonym: "autosomal dominant spastic paraplegia 13" EXACT [DOID:0110766] synonym: "autosomal dominant spastic paraplegia type 13" RELATED [Orphanet:100994] synonym: "hereditary spastic paraplegia caused by mutation in HSPD1" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 13" EXACT [DOID:0110766, MONDORULE:2] synonym: "HSPD1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "spastic paraplegia 13" RELATED [GARD:0009616] synonym: "spastic paraplegia 13, autosomal dominant" RELATED [MONDO:Lexical, OMIM:605280] synonym: "SPG13" EXACT ABBREVIATION [DOID:0110766, MONDO:Lexical, OMIM:605280, Orphanet:100994] xref: DOID:0110766 {source="MONDO:equivalentTo"} xref: MESH:C537485 {source="Orphanet:100994", source="MONDO:equivalentTo", source="Orphanet:100994/e"} xref: OMIM:605280 {source="DOID:0110766", source="Orphanet:100994", source="MONDO:equivalentTo", source="Orphanet:100994/e"} xref: Orphanet:100994 {source="DOID:0110766", source="MONDO:equivalentTo", source="OMIM:605280"} xref: UMLS:C1854467 {source="Orphanet:100994", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:605280", source="Orphanet:100994/e"} is_a: MONDO:0017914 {source="Orphanet:100994"} ! pure or complex autosomal dominant spastic paraplegia property_value: exactMatch DOID:0110766 property_value: exactMatch http://identifiers.org/mesh/C537485 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854467 property_value: exactMatch https://omim.org/entry/605280 property_value: exactMatch Orphanet:100994 [Term] id: MONDO:0011533 name: temtamy preaxial brachydactyly syndrome def: "An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene." [DOID:0050814, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363417, http://www.sciencedirect.com/science/article/pii/S1769721213002449, PMID:21129728] subset: gard_rare {source="GARD:0009679"} subset: ordo_malformation_syndrome {source="Orphanet:363417"} synonym: "intellectual disability syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies" RELATED [GARD:0009679] synonym: "mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies" RELATED DEPRECATED [GARD:0009679] synonym: "preaxial brachydactyly syndrome, TEMTAMY type" EXACT [DOID:0050814] synonym: "preaxial brachydactyly syndrome, Temtamy type" RELATED [OMIM:605282] synonym: "TEMTAMY preaxial brachydactyly syndrome" RELATED [OMIM:605282] synonym: "temtamy preaxial brachydactyly syndrome" EXACT [MONDO:Lexical, OMIM:605282] synonym: "TPBS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605282] xref: DOID:0050814 {source="MONDO:equivalentTo"} xref: MESH:C536958 {source="MONDO:equivalentTo"} xref: OMIM:605282 {source="Orphanet:363417/e", source="MONDO:equivalentTo", source="DOID:0050814", source="Orphanet:363417"} xref: Orphanet:363417 {source="MONDO:equivalentTo", source="OMIM:605282"} xref: UMLS:C1854466 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:605282", source="Orphanet:363417"} is_a: EFO:1000017 {source="DOID:0050814", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0017742 {source="Orphanet:363417"} ! disorder of O-xylosylglycan synthesis is_a: MONDO:0018292 {source="MONDO:Redundant", source="Orphanet:363417"} ! congenital disorder of glycosylation-related bone disorder is_a: MONDO:0018454 ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation is_a: MONDO:0800094 {source="PMID:31633310"} ! dysostosis with brachydactyly with extraskeletal manifestations property_value: exactMatch DOID:0050814 property_value: exactMatch http://identifiers.org/mesh/C536958 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854466 property_value: exactMatch https://omim.org/entry/605282 property_value: exactMatch Orphanet:363417 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9679/temtamy-preaxial-brachydactyly-syndrome xsd:anyURI {source="GARD:0009679"} [Term] id: MONDO:0011534 name: Charcot-Marie-Tooth disease type 4G def: "Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies." [Orphanet:99953] subset: ordo_disease {source="Orphanet:99953"} synonym: "autosomal recessive Charcot-Marie-Tooth disease type 4G" EXACT [DOID:0110196] synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in HK1" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, autosomal recessive, type 4G" RELATED [OMIM:605285] synonym: "Charcot-Marie-Tooth disease, type 4G" RELATED [OMIM:605285] synonym: "Charcot-Marie-Tooth neuropathy type 4G" EXACT [DOID:0110196] synonym: "Charcot-Marie-Tooth neuropathy, type 4G" RELATED [OMIM:605285] synonym: "CMT4G" EXACT ABBREVIATION [DOID:0110196, Orphanet:99953] synonym: "hereditary motor and sensory neuropathy Russe type" EXACT [DOID:0110196] synonym: "hereditary motor and sensory neuropathy, Russe type" EXACT [OMIM:605285, Orphanet:99953] synonym: "HK1 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "HMSNR" EXACT ABBREVIATION [DOID:0110196, MONDO:Lexical, OMIM:605285, Orphanet:99953] synonym: "neuropathy, hereditary motor and sensory, Russe type" RELATED [MONDO:Lexical, OMIM:605285] xref: DOID:0110196 {source="MONDO:equivalentTo"} xref: MESH:C535813 {source="MONDO:equivalentTo"} xref: OMIM:605285 {source="Orphanet:99953", source="MONDO:equivalentTo", source="DOID:0110196", source="Orphanet:99953/e"} xref: Orphanet:99953 {source="MONDO:equivalentTo", source="DOID:0110196", source="OMIM:605285"} xref: SCTID:715799004 {source="MONDO:equivalentTo"} xref: UMLS:C1854449 {source="Orphanet:99953", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:605285"} is_a: MONDO:0002316 {source="DC-OMIM:605285"} ! motor peripheral neuropathy is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis is_a: MONDO:0018995 {source="DOID:0110196", source="MONDO:Redundant", source="Orphanet:99953"} ! Charcot-Marie-Tooth disease type 4 property_value: exactMatch DOID:0110196 property_value: exactMatch http://identifiers.org/mesh/C535813 property_value: exactMatch http://identifiers.org/snomedct/715799004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854449 property_value: exactMatch https://omim.org/entry/605285 property_value: exactMatch Orphanet:99953 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0011537 name: macrocephaly-autism syndrome def: "An autosomal dominant disease characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material basis in heterozygous mutation in the PTEN gene on chromosome 10q23." [DOID:0060867, PMID:15805158, PMID:1719811] subset: ordo_disease {source="Orphanet:210548"} synonym: "macrocephaly-intellectual disability-autism syndrome" EXACT [DOID:0060867] synonym: "macrocephaly/autism syndrome" RELATED [OMIM:605309] xref: DOID:0060867 {source="MONDO:equivalentTo"} xref: MESH:C565342 {source="MONDO:equivalentTo"} xref: OMIM:605309 {source="Orphanet:210548/e", source="MONDO:equivalentTo", source="DOID:0060867", source="Orphanet:210548"} xref: Orphanet:210548 {source="MONDO:equivalentTo", source="OMIM:605309", source="DOID:0060867"} xref: UMLS:C1854416 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:605309", source="Orphanet:210548"} is_a: MONDO:0000426 {source="DOID:0060867", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:210548", source="Orphanet:210548/inferred"} ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch DOID:0060867 property_value: exactMatch http://identifiers.org/mesh/C565342 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854416 property_value: exactMatch https://omim.org/entry/605309 property_value: exactMatch Orphanet:210548 [Term] id: MONDO:0011539 name: nemaline myopathy 5 def: "Amish nemaline myopathy is a type of nemaline myopathy (NM) only observed in several families of the Amish community." [Orphanet:98902] subset: ordo_disease {source="Orphanet:98902"} synonym: "Amish nemaline myopathy" EXACT [DOID:0110936] synonym: "ANM" EXACT ABBREVIATION [DOID:0110936] synonym: "NEM5" EXACT ABBREVIATION [DOID:0110936, MONDO:Lexical, OMIM:605355] synonym: "nemaline myopathy 5" EXACT [MONDO:Lexical, OMIM:605355] synonym: "nemaline myopathy 5, Amish type" EXACT [DOID:0110936] synonym: "nemaline myopathy caused by mutation in TNNT1" EXACT [MONDO:design_pattern] synonym: "nemaline myopathy type 5" EXACT [DOID:0110936, MONDORULE:1, OMIM:605355] synonym: "nemaline myopathy, Amish type" RELATED [OMIM:605355] synonym: "nemaline myopathy, caused by mutation in the troponin t1 gene" RELATED [GARD:0008334] synonym: "TNNT1 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110936 {source="MONDO:equivalentTo"} xref: MESH:C538397 {source="MONDO:equivalentTo"} xref: OMIM:605355 {source="DOID:0110936", source="MONDO:equivalentTo", source="Orphanet:98902", source="Orphanet:98902/e"} xref: Orphanet:98902 {source="MONDO:equivalentTo"} xref: UMLS:C1854380 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:605355"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0017302 {source="Orphanet:98902"} ! qualitative or quantitative defects of troponin is_a: MONDO:0018701 {source="Orphanet:98902"} ! congenital nemaline myopathy is_a: MONDO:0018958 {source="DC-OMIM:605355", source="DOID:0110936", source="MESH:C538397", source="MONDO:Redundant", source="OMIM:605355", source="Orphanet:98902"} ! nemaline myopathy property_value: exactMatch DOID:0110936 property_value: exactMatch http://identifiers.org/mesh/C538397 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854380 property_value: exactMatch https://omim.org/entry/605355 property_value: exactMatch Orphanet:98902 [Term] id: MONDO:0011540 name: spinocerebellar ataxia type 14 def: "Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." [Orphanet:98763] subset: ordo_disease {source="Orphanet:98763"} synonym: "SCA14" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605361, Orphanet:98763] synonym: "spinocerebellar ataxia 14" RELATED [MONDO:Lexical, OMIM:605361] synonym: "spinocerebellar ataxia type 14" EXACT [MONDORULE:2, OMIM:605361] xref: DOID:0050964 {source="MONDO:equivalentTo"} xref: MESH:C537196 {source="Orphanet:98763", source="MONDO:equivalentTo", source="Orphanet:98763/e"} xref: OMIM:605361 {source="Orphanet:98763", source="DOID:0050964", source="MONDO:equivalentTo", source="Orphanet:98763/e"} xref: Orphanet:98763 {source="MONDO:equivalentTo", source="OMIM:605361"} xref: SCTID:719210007 {source="MONDO:equivalentTo"} xref: UMLS:C1854369 {source="Orphanet:98763", source="MONDO:equivalentTo", source="Orphanet:98763/e", source="MONDO:ncbi_mim2gene_medline", source="OMIM:605361"} xref: UMLS:C4304883 {source="MONDO:equivalentObsolete"} is_a: MONDO:0019792 {source="Orphanet:98763"} ! autosomal dominant cerebellar ataxia type I property_value: exactMatch DOID:0050964 property_value: exactMatch http://identifiers.org/mesh/C537196 property_value: exactMatch http://identifiers.org/snomedct/719210007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854369 property_value: exactMatch https://omim.org/entry/605361 property_value: exactMatch Orphanet:98763 [Term] id: MONDO:0011541 name: dilated cardiomyopathy 1J def: "An extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure." [Orphanet:217622] subset: ordo_disease {source="Orphanet:217622"} synonym: "autosomal dominant dilated cardiomyopathy with sensorineural hearing loss" EXACT [DOID:0110440] synonym: "cardiomyopathy, dilated, 1J" RELATED [MONDO:Lexical, OMIM:605362] synonym: "cardiomyopathy, dilated, type 1J" EXACT [MONDORULE:4, OMIM:605362] synonym: "cardiomyopathy, dilated, with sensorineural hearing loss, autosomal dominant" RELATED [OMIM:605362] synonym: "CMD1J" EXACT ABBREVIATION [DOID:0110440, MONDO:Lexical, OMIM:605362] synonym: "dilated cardiomyopathy 1J" EXACT [] synonym: "dilated cardiomyopathy type 1J" EXACT [DOID:0110440, MONDORULE:4] synonym: "EYA4 familial dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial dilated cardiomyopathy caused by mutation in EYA4" EXACT [MONDO:design_pattern] synonym: "neurosensory deafness with dilated cardiomyopathy" EXACT [DOID:0110440, Orphanet:217622] synonym: "neurosensory hearing loss with dilated cardiomyopathy" EXACT [DOID:0110440, Orphanet:217622] synonym: "sensorineural deafness with dilated cardiomyopathy" EXACT [DOID:0110440] synonym: "sensorineural hearing loss with dilated cardiomyopathy" EXACT [DOID:0110440, Orphanet:217622] xref: DOID:0110440 {source="MONDO:equivalentTo"} xref: MESH:C565337 {source="MONDO:equivalentTo"} xref: OMIM:605362 {source="Orphanet:217622", source="MONDO:equivalentTo", source="Orphanet:217622/e", source="DOID:0110440"} xref: Orphanet:217622 {source="MONDO:equivalentTo", source="DOID:0110440", source="OMIM:605362"} xref: UMLS:C1854368 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:605362"} is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:605362", source="Orphanet:217622/inferred"} ! familial dilated cardiomyopathy property_value: exactMatch DOID:0110440 property_value: exactMatch http://identifiers.org/mesh/C565337 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854368 property_value: exactMatch https://omim.org/entry/605362 property_value: exactMatch Orphanet:217622 property_value: excluded_subClassOf MONDO:0016337 {source="Orphanet:217622"} [Term] id: MONDO:0011551 name: TH-deficient dopa-responsive dystonia def: "Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy." [Orphanet:101150] subset: ordo_disease {source="Orphanet:101150"} synonym: "autosomal recessive dopa-responsive dystonia" EXACT [https://orcid.org/0000-0002-5655-9589] synonym: "autosomal recessive Segawa syndrome" EXACT [Orphanet:101150] synonym: "DOPA responsive dystonia, autosomal recessive" RELATED [GARD:0001902] synonym: "Dopa-responsive dystonia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:605407] synonym: "dopa-responsive dystonia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] synonym: "dystonia, DOPA responsive, autosomal recessive" RELATED [GARD:0001902] synonym: "dystonia, Dopa-responsive, autosomal recessive" RELATED [OMIM:605407] synonym: "DYT5b" EXACT [Orphanet:101150] synonym: "Parkinsonism, infantile, autosomal recessive" RELATED [OMIM:605407] synonym: "Segawa syndrome, autosomal recessive" RELATED [OMIM:605407] synonym: "Segawa syndrome, recessive" EXACT [OMIM:605407, OMIM:genemap2] synonym: "tyrosine hydroxylase-deficient dopa-responsive dystonia" EXACT [Orphanet:101150] xref: OMIM:605407 {source="Orphanet:101150/e", source="MONDO:equivalentTo", source="Orphanet:101150"} xref: Orphanet:101150 {source="MONDO:equivalentTo", source="OMIM:605407"} xref: SCTID:715827001 {source="MONDO:equivalentTo"} xref: UMLS:C2673535 {source="MONDO:equivalentTo", source="OMIM:605407", source="Orphanet:101150"} is_a: EFO:1000017 {source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0016812 {source="MONDO:Redundant", source="Orphanet:101150"} ! dopa-responsive dystonia is_a: MONDO:0017307 {source="Orphanet:101150"} ! disorder of tyrosine metabolism is_a: MONDO:0017756 {source="Orphanet:101150"} ! disorder of pterin metabolism is_a: MONDO:0100064 {source="https://orcid.org/0000-0002-5655-9589"} ! tyrosine hydroxylase deficiency property_value: exactMatch http://identifiers.org/snomedct/715827001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673535 property_value: exactMatch https://omim.org/entry/605407 property_value: exactMatch Orphanet:101150 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011555 name: radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome def: "Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterized by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15)." [Orphanet:71289] subset: ordo_malformation_syndrome {source="Orphanet:71289"} synonym: "ATRUS syndrome" EXACT [Orphanet:71289] synonym: "radioulnar synostosis with amegakaryocytic thrombocytopenia" RELATED [MONDO:Lexical, OMIM:605432] synonym: "RUSAT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605432] xref: MESH:C565328 {source="MONDO:equivalentTo"} xref: OMIMPS:605432 {source="MONDO:equivalentTo"} xref: Orphanet:71289 {source="MONDO:equivalentTo", source="OMIM:605432"} xref: SCTID:721882001 {source="MONDO:equivalentTo"} is_a: MONDO:0009332 ! congenital hematological disorder is_a: MONDO:0018454 ! dysostosis of genetic origin is_a: MONDO:0018795 {source="Orphanet:71289"} ! syndromic constitutional thrombocytopenia is_a: MONDO:0019054 ! congenital limb malformation property_value: exactMatch http://identifiers.org/mesh/C565328 property_value: exactMatch http://identifiers.org/snomedct/721882001 property_value: exactMatch https://omim.org/phenotypicSeries/PS605432 property_value: exactMatch Orphanet:71289 [Term] id: MONDO:0011559 name: benign recurrent intrahepatic cholestasis type 2 subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:99961"} synonym: "benign recurrent intrahepatic cholestasis 2" RELATED [GARD:0010029] synonym: "Bric type 2" EXACT [DOID:0070232, Orphanet:99961] synonym: "BRIC2" EXACT ABBREVIATION [DOID:0070232, GARD:0010029, MONDO:Lexical, OMIM:605479, Orphanet:99961] synonym: "cholestasis, benign recurrent intrahepatic 2" RELATED [GARD:0010029] synonym: "cholestasis, benign recurrent intrahepatic, 2" RELATED [MONDO:Lexical, OMIM:605479] synonym: "cholestasis, benign recurrent intrahepatic, type 2" EXACT [MONDORULE:1, OMIM:605479] synonym: "mild ABCB11 deficiency" RELATED [GARD:0010029] synonym: "recurrent familial intrahepatic cholestasis 2" RELATED [GARD:0010029] xref: DOID:0070232 {source="MONDO:equivalentTo"} xref: MESH:C535934 {source="MONDO:equivalentTo"} xref: OMIM:605479 {source="Orphanet:99961", source="DOID:0070232", source="MONDO:equivalentTo", source="Orphanet:99961/e", source="GARD:0010029"} xref: Orphanet:99961 {source="DOID:0070232", source="OMIM:605479", source="MONDO:equivalentTo"} is_a: MONDO:0019008 {source="DOID:0070232", source="OMIM:605479", source="Orphanet:99961"} ! benign recurrent intrahepatic cholestasis property_value: exactMatch DOID:0070232 property_value: exactMatch http://identifiers.org/mesh/C535934 property_value: exactMatch https://omim.org/entry/605479 property_value: exactMatch Orphanet:99961 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10029/benign-recurrent-intrahepatic-cholestasis-2 xsd:anyURI {source="GARD:0010029"} [Term] id: MONDO:0011565 name: metabolic syndrome X synonym: "abdominal obesity metabolic syndrome" RELATED [GARD:0009226] synonym: "abdominal obesity-metabolic syndrome 1" EXACT [DOID:14221, MONDO:Lexical, OMIM:605552] synonym: "abdominal obesity-metabolic syndrome quantitative trait locus 1" RELATED [OMIM:605552] synonym: "AOMS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605552] synonym: "dysmetabolic syndrome X" EXACT [DOID:14221] synonym: "metabolic syndrome 10" RELATED [OMIM:605552] synonym: "metabolic syndrome type X" EXACT [DOID:14221, MONDORULE:1] synonym: "metabolic syndrome, protection against" RELATED [OMIM:605552] xref: DOID:14221 {source="MONDO:equivalentTo"} xref: ICD9:277.7 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14221"} xref: MESH:D024821 {source="MONDO:equivalentTo", source="DOID:14221"} xref: OMIM:605552 {source="MONDO:equivalentTo", source="DOID:14221"} xref: SCTID:237602007 {source="MONDO:equivalentTo", source="DOID:14221"} xref: UMLS:C0524620 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:14221", source="OMIM:605552"} is_a: MONDO:0000816 {source="DC-OMIM:605552", source="DOID:14221", source="OMIM:605552"} ! abdominal obesity-metabolic syndrome property_value: exactMatch DOID:14221 property_value: exactMatch http://identifiers.org/mesh/D024821 property_value: exactMatch http://identifiers.org/snomedct/237602007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0524620 property_value: exactMatch https://omim.org/entry/605552 [Term] id: MONDO:0011569 name: Charcot-Marie-Tooth disease type 2B1 def: "Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy." [Orphanet:98856] subset: gard_rare {source="GARD:0008548"} subset: ordo_disease {source="Orphanet:98856"} synonym: "AR-CMT2B1" EXACT [Orphanet:98856] synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1" EXACT [DOID:0110156] synonym: "autosomal recessive axonal CMT4C1" EXACT [DOID:0110156, Orphanet:98856] synonym: "autosomal recessive Charcot-Marie-Tooth disease type 2B1" EXACT [DOID:0110156, Orphanet:98856] synonym: "Charcot Marie Tooth disease type 2B1" RELATED [GARD:0008548] synonym: "Charcot-Marie-Tooth disease neuronal type 2B1" EXACT [DOID:0110156] synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in LMNA" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, 2B1" RELATED [OMIM:605588] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B1" RELATED [OMIM:605588] synonym: "Charcot-Marie-Tooth disease, axonal, type 2B1" RELATED [GARD:0008548, MONDO:Lexical, OMIM:605588] synonym: "Charcot-Marie-Tooth disease, neuronal, type 2B1" RELATED [OMIM:605588] synonym: "Charcot-Marie-Tooth disease, type 2B1" EXACT [OMIM:605588, OMIM:genemap2] synonym: "Charcot-Marie-Tooth neuropathy type 2B1" EXACT [DOID:0110156] synonym: "Charcot-Marie-Tooth neuropathy, type 2B1" RELATED [OMIM:605588] synonym: "CMT 2B1" RELATED [GARD:0008548] synonym: "CMT2B1" EXACT ABBREVIATION [DOID:0110156, MONDO:Lexical, OMIM:605588] synonym: "LMNA Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110156 {source="MONDO:equivalentTo"} xref: MESH:C537990 {source="MONDO:equivalentTo", source="Orphanet:98856", source="Orphanet:98856/e"} xref: OMIM:605588 {source="MONDO:equivalentTo", source="Orphanet:98856", source="DOID:0110156", source="Orphanet:98856/e"} xref: Orphanet:98856 {source="OMIM:605588", source="MONDO:equivalentTo", source="DOID:0110156"} xref: SCTID:725048002 {source="MONDO:equivalentTo"} xref: UMLS:C1854154 {source="OMIM:605588", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:98856", source="Orphanet:98856/e"} is_a: MONDO:0018993 {source="DOID:0110156", source="MONDO:Redundant"} ! Charcot-Marie-Tooth disease type 2 is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy property_value: exactMatch DOID:0110156 property_value: exactMatch http://identifiers.org/mesh/C537990 property_value: exactMatch http://identifiers.org/snomedct/725048002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854154 property_value: exactMatch https://omim.org/entry/605588 property_value: exactMatch Orphanet:98856 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8548/charcot-marie-tooth-disease-type-2b1 xsd:anyURI {source="GARD:0008548"} [Term] id: MONDO:0011570 name: Charcot-Marie-Tooth disease type 2B2 def: "Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry." [Orphanet:101101] subset: gard_rare {source="GARD:0001249"} subset: ordo_disease {source="Orphanet:101101"} synonym: "AR-CMT2B2" EXACT [DOID:0110179, Orphanet:101101] synonym: "ARCMT2B" EXACT ABBREVIATION [DOID:0110179] synonym: "Arcmt2B" RELATED [OMIM:605589] synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2" EXACT [DOID:0110179, Orphanet:101101] synonym: "autosomal recessive axonal CMT4C3" EXACT [DOID:0110179, Orphanet:101101] synonym: "Charcot Marie Tooth disease type 2B2" RELATED [GARD:0001249] synonym: "Charcot-Marie-Tooth disease neuronal type 2B2" EXACT [DOID:0110179] synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in MED25" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease type 2B2" EXACT [] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2" RELATED [GARD:0001249] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B2" RELATED [OMIM:605589] synonym: "Charcot-Marie-Tooth disease, axonal, type 2B2" RELATED [GARD:0001249, MONDO:Lexical, OMIM:605589] synonym: "Charcot-Marie-Tooth disease, neuronal, type 2B2" RELATED [OMIM:605589] synonym: "Charcot-Marie-Tooth disease, type 2B2" EXACT [OMIM:605589, OMIM:genemap2] synonym: "Charcot-Marie-Tooth neuropathy type 2B2" EXACT [DOID:0110179] synonym: "Charcot-Marie-Tooth neuropathy, type 2B2" RELATED [OMIM:605589] synonym: "CMT 2B2" RELATED [GARD:0001249] synonym: "CMT2B2" EXACT ABBREVIATION [DOID:0110179, MONDO:Lexical, OMIM:605589] synonym: "MED25 Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110179 {source="MONDO:equivalentTo"} xref: MESH:C537991 {source="Orphanet:101101", source="MONDO:equivalentTo", source="Orphanet:101101/e"} xref: OMIM:605589 {source="Orphanet:101101", source="MONDO:equivalentTo", source="Orphanet:101101/e", source="DOID:0110179"} xref: Orphanet:101101 {source="OMIM:605589", source="MONDO:equivalentTo", source="DOID:0110179"} xref: SCTID:719981005 {source="MONDO:equivalentTo"} xref: UMLS:C1854150 {source="OMIM:605589", source="Orphanet:101101", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:101101/e"} is_a: MONDO:0018993 {source="DOID:0110179", source="MONDO:Redundant"} ! Charcot-Marie-Tooth disease type 2 property_value: exactMatch DOID:0110179 property_value: exactMatch http://identifiers.org/mesh/C537991 property_value: exactMatch http://identifiers.org/snomedct/719981005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854150 property_value: exactMatch https://omim.org/entry/605589 property_value: exactMatch Orphanet:101101 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1249/charcot-marie-tooth-disease-type-2b2 xsd:anyURI {source="GARD:0001249"} [Term] id: MONDO:0011571 name: deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 synonym: "deafness, autosomal dominant 39, with dentinogenesis" NARROW [OMIM:605594, OMIM:genemap2] synonym: "deafness, autosomal dominant 39, with dentinogenesis imperfecta 1" EXACT [OMIM:605594] synonym: "deafness, autosomal dominant 39, with dentinogenesis imperfecta type 1" EXACT [MONDORULE:1, OMIM:605594] synonym: "Dfna39/dentinogenesis imperfecta 1 syndrome" RELATED [OMIM:605594] synonym: "Dfna39/Dgi1 syndrome" RELATED [OMIM:605594] synonym: "Dgi1/Dfna39 syndrome" RELATED [OMIM:605594] xref: MESH:C565316 {source="MONDO:equivalentTo"} xref: OMIM:605594 {source="MONDO:equivalentTo"} xref: UMLS:C1854146 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:605594"} is_a: MONDO:0007441 {source="Orphanet:166260/btnt"} ! dentinogenesis imperfecta type 2 property_value: exactMatch http://identifiers.org/mesh/C565316 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854146 property_value: exactMatch https://omim.org/entry/605594 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011575 name: cerebrooculonasal syndrome def: "Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay." [Orphanet:66625] subset: gard_rare {source="GARD:0003480"} subset: ordo_malformation_syndrome {source="Orphanet:66625"} synonym: "cerebrooculonasal syndrome" EXACT [OMIM:605627] xref: MESH:C565313 {source="MONDO:equivalentTo"} xref: OMIM:605627 {source="Orphanet:66625", source="MONDO:equivalentTo", source="Orphanet:66625/e"} xref: Orphanet:66625 {source="MONDO:equivalentTo", source="OMIM:605627"} xref: SCTID:720855003 {source="MONDO:equivalentTo"} xref: UMLS:C1854108 {source="Orphanet:66625", source="MONDO:equivalentTo", source="OMIM:605627", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015159 {source="Orphanet:66625"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C565313 property_value: exactMatch http://identifiers.org/snomedct/720855003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854108 property_value: exactMatch https://omim.org/entry/605627 property_value: exactMatch Orphanet:66625 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:66625"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3480/cerebrooculonasal-syndrome xsd:anyURI {source="GARD:0003480"} [Term] id: MONDO:0011576 name: familial hyperaldosteronism type II def: "Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism." [Orphanet:404] subset: ordo_disease {source="Orphanet:404"} synonym: "familial adrenal adenoma" EXACT [Orphanet:404] synonym: "familial hyperaldosteronism type 2" EXACT [Orphanet:404] synonym: "FH 2" RELATED [OMIM:605635] synonym: "FH-II" EXACT [Orphanet:404] synonym: "FH2" EXACT ABBREVIATION [Orphanet:404] synonym: "FHII" RELATED ABBREVIATION [GARD:0002789] synonym: "HALD2" RELATED ABBREVIATION [OMIM:605635] synonym: "hyperaldosteronism, familial, type II" RELATED [OMIM:605635] xref: MESH:C565312 {source="MONDO:equivalentTo"} xref: NCIT:C127162 {source="MONDO:equivalentTo"} xref: OMIM:605635 {source="Orphanet:404", source="MONDO:equivalentTo", source="Orphanet:404/e"} xref: Orphanet:404 {source="OMIM:605635", source="MONDO:equivalentTo"} xref: SCTID:703233008 {source="MONDO:equivalentTo"} xref: UMLS:C1854107 {source="OMIM:605635", source="Orphanet:404", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C3839212 {source="MONDO:equivalentTo"} is_a: MONDO:0016525 {source="Orphanet:404"} ! familial hyperaldosteronism is_a: MONDO:0036591 ! adrenal cortex neoplasm property_value: exactMatch http://identifiers.org/mesh/C565312 property_value: exactMatch http://identifiers.org/snomedct/703233008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854107 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3839212 property_value: exactMatch https://omim.org/entry/605635 property_value: exactMatch NCIT:C127162 property_value: exactMatch Orphanet:404 [Term] id: MONDO:0011577 name: myopathy, proximal, and ophthalmoplegia synonym: "inclusion body myopathy 3, autosomal dominant" RELATED [OMIM:605637] synonym: "inclusion body myopathy 3, autosomal dominant, formerly" RELATED [OMIM:605637] synonym: "myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles" RELATED [OMIM:605637] synonym: "MYOPATHY, proximal, and ophthalmoplegia" RELATED [OMIM:605637] synonym: "myopathy, proximal, and ophthalmoplegia" EXACT [MONDO:Lexical, OMIM:605637] synonym: "MYPOP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605637] synonym: "proximal myopathy and ophthalmoplegia" EXACT [OMIM:605637, OMIM:genemap2] xref: DOID:0080719 {source="MONDO:equivalentTo"} xref: MESH:C565311 {source="MONDO:equivalentTo"} xref: OMIM:605637 {source="MONDO:equivalentTo"} xref: UMLS:C1854106 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:605637"} is_a: EFO:0007323 {source="MESH:C565311"} ! inclusion body myositis is_a: MONDO:0019952 {source="OMIM:605637"} ! congenital myopathy property_value: exactMatch DOID:0080719 property_value: exactMatch http://identifiers.org/mesh/C565311 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854106 property_value: exactMatch https://omim.org/entry/605637 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011578 name: familial papillary thyroid carcinoma with renal papillary neoplasia def: "Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC)." [Orphanet:97290] comment: Editor note: check MONDO:0000201 thyroid cancer, nonmedullary subset: ordo_disease {source="Orphanet:97290"} synonym: "Prn1" RELATED [OMIM:605642] synonym: "ptc-RCC" EXACT [Orphanet:97290] synonym: "Ptcprn" RELATED [OMIM:605642] synonym: "thyroid carcinoma, papillary, with papillary renal neoplasia" RELATED [OMIM:605642] xref: MESH:C565310 {source="MONDO:equivalentTo"} xref: OMIM:605642 {source="MONDO:equivalentTo", source="Orphanet:97290", source="Orphanet:97290/e"} xref: Orphanet:97290 {source="OMIM:605642", source="MONDO:equivalentTo"} xref: SCTID:717734005 {source="MONDO:equivalentTo"} xref: UMLS:C1854104 {source="OMIM:605642", source="MONDO:equivalentTo", source="Orphanet:97290", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0002890 ! renal carcinoma is_a: MONDO:0017891 {source="Orphanet:97290"} ! inherited renal cancer-predisposing syndrome is_a: MONDO:0017896 {source="Orphanet:97290"} ! familial nonmedullary thyroid carcinoma property_value: exactMatch http://identifiers.org/mesh/C565310 property_value: exactMatch http://identifiers.org/snomedct/717734005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854104 property_value: exactMatch https://omim.org/entry/605642 property_value: exactMatch Orphanet:97290 [Term] id: MONDO:0011579 name: late-onset retinal degeneration def: "Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease." [Orphanet:67042] subset: ordo_disease {source="Orphanet:67042"} synonym: "autosomal dominant late-onset retinal degeneration" EXACT [DOID:0060869, Orphanet:67042] synonym: "late-onset retinal degeneration" EXACT [MONDO:Lexical, OMIM:605670] synonym: "LORD" EXACT ABBREVIATION [DOID:0060869, MONDO:Lexical, OMIM:605670, Orphanet:67042] synonym: "pigmentary retinopathy" RELATED [GARD:0004357] synonym: "retinal Degeneration, late-onset, autosomal dominant" RELATED [OMIM:605670] xref: DOID:0060869 {source="MONDO:equivalentTo"} xref: MESH:C565309 {source="MONDO:equivalentTo"} xref: OMIM:605670 {source="MONDO:equivalentTo", source="Orphanet:67042", source="DOID:0060869", source="Orphanet:67042/e"} xref: Orphanet:67042 {source="MONDO:equivalentTo", source="OMIM:605670", source="DOID:0060869"} xref: SCTID:719431007 {source="MONDO:equivalentTo"} xref: UMLS:C1854065 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:67042", source="OMIM:605670"} is_a: MONDO:0019118 {source="Orphanet:67042"} ! inherited retinal dystrophy property_value: exactMatch DOID:0060869 property_value: exactMatch http://identifiers.org/mesh/C565309 property_value: exactMatch http://identifiers.org/snomedct/719431007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854065 property_value: exactMatch https://omim.org/entry/605670 property_value: exactMatch Orphanet:67042 [Term] id: MONDO:0011581 name: arrhythmogenic cardiomyopathy with wooly hair and keratoderma def: "A cardioectodermal syndrome that is often associated with the gene DSP, encoding desmoplakin. Desmoplakin is a member of the plakin family of cell adhesion molecules that are responsible for the formation and maintenance of desmosomes. Variation in DSP is associated with cardiomyopathic manifestations that include: (1) seemingly isolated arrhythmogenic right ventricle cardiomyopathy (ARVC) that is atypical and can show left ventricle dominance, or be present in the left and right ventricle simultaneously; and (2) dilated cardiomyopathy. Cutaneous phenotypes including wooly hair and/or keratoderma can present along with the cardiomyopathy, but are noted as less penetrant features." [https://clinicalgenome.org/affiliation/40003/] subset: gard_rare {source="GARD:0005595"} subset: ordo_disease {source="Orphanet:65282"} synonym: "arrhythmogenic cardiomyopathy with wooly hair and keratoderma" EXACT [] synonym: "cardiomyopathy dilated with woolly hair and keratoderma" RELATED OMO:0003005 [] synonym: "cardiomyopathy dilated with wooly hair and keratoderma" RELATED [GARD:0005595] synonym: "cardiomyopathy, dilated, with woolly hair and keratoderma" RELATED OMO:0003005 [] synonym: "cardiomyopathy, dilated, with wooly hair and keratoderma" RELATED [MONDO:Lexical, OMIM:605676] synonym: "Carvajal syndrome" EXACT [DOID:0090128, Orphanet:65282] synonym: "DCWHK" EXACT ABBREVIATION [DOID:0090128, MONDO:Lexical, OMIM:605676] synonym: "dilated cardiomyopathy with woolly hair and keratoderma" EXACT OMO:0003005 [] synonym: "dilated cardiomyopathy with wooly hair and keratoderma" EXACT [https://www.clinicalgenome.org/affiliation/40003/] synonym: "epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy" RELATED OMO:0003005 [] synonym: "epidermolytic palmoplantar keratoderma wooly hair and dilated cardiomyopathy" RELATED [GARD:0005595] synonym: "keratoderma with woolly hair type II" EXACT OMO:0003005 [] synonym: "keratoderma with wooly hair type II" EXACT [Orphanet:65282] synonym: "KWWH type II" EXACT [Orphanet:65282] synonym: "palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair" EXACT OMO:0003005 [] synonym: "palmoplantar keratoderma with left ventricular cardiomyopathy and wooly hair" EXACT [DOID:0090128, OMIM:605676] synonym: "woolly hair - palmoplantar keratoderma - dilated cardiomyopathy" RELATED OMO:0003005 [] synonym: "woolly hair - palmoplantar keratoderma - dilated cardiomyopathy syndrome" RELATED OMO:0003005 [] synonym: "woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome" EXACT OMO:0003005 [] synonym: "woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome" EXACT OMO:0003005 [] synonym: "wooly hair - palmoplantar keratoderma - dilated cardiomyopathy" RELATED [GARD:0005595] synonym: "wooly hair - palmoplantar keratoderma - dilated cardiomyopathy syndrome" RELATED [GARD:0005595] synonym: "wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome" EXACT [Orphanet:65282] synonym: "wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome" EXACT [Orphanet:65282] xref: DOID:0090128 {source="MONDO:equivalentTo"} xref: MESH:C535581 {source="MONDO:equivalentTo"} xref: OMIM:605676 {source="MONDO:equivalentTo", source="Orphanet:65282", source="DOID:0090128", source="Orphanet:65282/e"} xref: Orphanet:65282 {source="OMIM:605676", source="MONDO:equivalentTo"} xref: SCTID:719835006 {source="MONDO:equivalentTo"} xref: UMLS:C1854063 {source="OMIM:605676", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:65282"} is_a: MONDO:0019287 {source="Orphanet:65282"} ! ectodermal dysplasia syndrome is_a: MONDO:0100080 {source="https://orcid.org/0000-0002-6733-369X"} ! cardioectodermal syndrome property_value: exactMatch DOID:0090128 property_value: exactMatch http://identifiers.org/mesh/C535581 property_value: exactMatch http://identifiers.org/snomedct/719835006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854063 property_value: exactMatch https://omim.org/entry/605676 property_value: exactMatch Orphanet:65282 property_value: excluded_subClassOf MONDO:0016337 {source="Orphanet:65282"} property_value: excluded_subClassOf MONDO:0017672 {source="MONDO:0020097-obsoleted"} property_value: excluded_subClassOf MONDO:0018558 {source="Orphanet:65282"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1120 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5595/cardiomyopathy-dilated-with-woolly-hair-and-keratoderma xsd:anyURI {source="GARD:0005595"} [Term] id: MONDO:0011582 name: multiple mitochondrial dysfunctions syndrome 1 def: "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the NFU1 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:401869"} synonym: "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in NFU1" EXACT [MONDO:design_pattern] synonym: "Mmds" BROAD [OMIM:605711] synonym: "MMDS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605711] synonym: "multiple mitochondrial dysfunctions syndrome 1" EXACT [MONDO:Lexical, OMIM:605711] synonym: "multiple mitochondrial dysfunctions syndrome type 1" EXACT [DOID:0080133, MONDORULE:1, OMIM:605711] synonym: "NFU1 deficiency" EXACT [Orphanet:401869] synonym: "NFU1 fatal multiple mitochondrial dysfunctions syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080133 {source="MONDO:equivalentTo"} xref: OMIM:605711 {source="DOID:0080133", source="MONDO:equivalentTo", source="Orphanet:401869", source="Orphanet:401869/e"} xref: Orphanet:401869 {source="OMIM:605711", source="MONDO:equivalentTo"} xref: UMLS:C3276432 {source="OMIM:605711", source="MONDO:equivalentTo"} xref: UMLS:CN226135 {source="MONDO:equivalentTo"} is_a: MONDO:0017338 {source="MONDO:Redundant", source="OMIM:605711", source="Orphanet:401869"} ! fatal multiple mitochondrial dysfunctions syndrome property_value: exactMatch DOID:0080133 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3276432 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226135 property_value: exactMatch https://omim.org/entry/605711 property_value: exactMatch Orphanet:401869 [Term] id: MONDO:0011583 name: cerebral amyloid angiopathy, APP-related def: "A cerebral amyloid angiopathy that has material basis in an autosomal dominant mutation of APP on chromosome 21q21.3." [DOID:0070028] synonym: "amyloidosis, Cerebroarterial, APP-related" EXACT [DOID:0070028] synonym: "amyloidosis, hereditary, with cerebral hemorrhage, Dutch variant" RELATED [DOID:0070028] synonym: "APP-related cerebral amyloid angiopathy" RELATED [DOID:0070028] synonym: "cerebral amyloid angiopathy, APP-related" EXACT [OMIM:605714] synonym: "cerebral amyloid angiopathy, APP-related, Arctic variant" RELATED [DOID:0070028] synonym: "cerebral amyloid angiopathy, APP-related, Dutch variant" RELATED [DOID:0070028] synonym: "cerebral amyloid angiopathy, APP-related, Flemish variant" RELATED [DOID:0070028] synonym: "cerebral amyloid angiopathy, APP-related, Iowa variant" RELATED [DOID:0070028, OMIM:605714] synonym: "cerebral amyloid angiopathy, APP-related, Italian variant" RELATED [DOID:0070028, OMIM:605714] synonym: "cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants" EXACT [OMIM:605714, OMIM:genemap2] synonym: "HCHWAD" EXACT ABBREVIATION [DOID:0070028] xref: DOID:0070028 {source="MONDO:equivalentTo"} xref: NCIT:C157147 {source="MONDO:equivalentTo"} xref: OMIM:605714 {source="MONDO:equivalentTo", source="DOID:0070028"} xref: UMLS:C2751494 {source="MONDO:equivalentTo"} xref: UMLS:C2751536 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:605714"} xref: UMLS:C3888307 {source="MONDO:equivalentTo"} xref: UMLS:C3888308 {source="MONDO:equivalentTo"} xref: UMLS:C3888309 {source="MONDO:equivalentTo"} is_a: EFO:0006790 {source="DC-OMIM:605714", source="DOID:0070028"} ! cerebral amyloid angiopathy property_value: exactMatch DOID:0070028 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751494 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751536 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888307 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888308 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888309 property_value: exactMatch https://omim.org/entry/605714 property_value: exactMatch NCIT:C157147 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011584 name: Fanconi anemia complementation group D1 def: "Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML." [Orphanet:319462] subset: ordo_disease {source="Orphanet:319462"} synonym: "FAD1" EXACT ABBREVIATION [DOID:0111089] synonym: "Fad1" RELATED [OMIM:605724] synonym: "FANCD1" EXACT ABBREVIATION [DOID:0111089, MONDO:Lexical, OMIM:605724] synonym: "Fanconi anemia complementation group D1" EXACT [] synonym: "Fanconi anemia, complementation group D1" RELATED [MONDO:Lexical, OMIM:605724] synonym: "inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations" RELATED [Orphanet:319462] xref: DOID:0111089 {source="MONDO:equivalentTo"} xref: MESH:C563980 {source="MONDO:equivalentTo"} xref: NCIT:C125705 {source="MONDO:equivalentTo"} xref: OMIM:605724 {source="MONDO:equivalentTo", source="Orphanet:319462", source="DOID:0111089", source="Orphanet:319462/e"} xref: Orphanet:319462 {source="OMIM:605724", source="MONDO:equivalentTo"} xref: SCTID:766707003 {source="MONDO:equivalentTo"} xref: UMLS:C1838457 {source="NCIT:C125705", source="OMIM:605724", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0017891 {source="Orphanet:319462"} ! inherited renal cancer-predisposing syndrome is_a: MONDO:0019391 {source="DC-OMIM:605724", source="DOID:0111089", source="MESH:C563980", source="NCIT:C125705", source="OMIM:605724"} ! Fanconi anemia property_value: exactMatch DOID:0111089 property_value: exactMatch http://identifiers.org/mesh/C563980 property_value: exactMatch http://identifiers.org/snomedct/766707003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838457 property_value: exactMatch https://omim.org/entry/605724 property_value: exactMatch NCIT:C125705 property_value: exactMatch Orphanet:319462 [Term] id: MONDO:0011585 name: autosomal recessive distal spinal muscular atrophy 2 def: "Distal hereditary motor neuropathy, Jerash type is a rare, genetic neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilizes (~10 years after onset)." [Orphanet:139552] subset: ordo_disease {source="Orphanet:139552"} synonym: "autosomal recessive distal spinal muscular atrophy type 2" EXACT [DOID:0111065, MONDORULE:1, Orphanet:139552] synonym: "dHMNJ" EXACT [DOID:0111065, Orphanet:139552] synonym: "distal hereditary motor neuropathy Jerash type" EXACT [DOID:0111065] synonym: "distal hereditary motor neuropathy, Jerash type" RELATED [Orphanet:139552] synonym: "DSMA2" EXACT ABBREVIATION [DOID:0111065, MONDO:Lexical, OMIM:605726] synonym: "hereditary motor neuropathy, Jerash type" RELATED [GARD:0010133] synonym: "HMNJ" RELATED ABBREVIATION [GARD:0010133] synonym: "MNDJ" RELATED ABBREVIATION [GARD:0010133] synonym: "motor neuropathy, distal, Jerash type" RELATED [GARD:0010133] synonym: "neuronopathy, distal hereditary motor, Jerash type" RELATED [OMIM:605726] synonym: "neuropathy, distal hereditary motor, Jerash type" RELATED [GARD:0010133, OMIM:605726] synonym: "spinal muscular atrophy Jerash type" EXACT [DOID:0111065] synonym: "spinal muscular atrophy, distal, autosomal recessive, 2" RELATED [MONDO:Lexical, OMIM:605726] synonym: "spinal muscular atrophy, distal, autosomal recessive, type 2" EXACT [MONDORULE:1, OMIM:605726] synonym: "spinal muscular atrophy, Jerash type" RELATED [OMIM:605726] xref: DOID:0111065 {source="MONDO:equivalentTo"} xref: MESH:C535715 {source="MONDO:equivalentTo"} xref: OMIM:605726 {source="Orphanet:139552/e", source="MONDO:equivalentTo", source="DOID:0111065", source="Orphanet:139552"} xref: Orphanet:139552 {source="MONDO:equivalentTo", source="OMIM:605726", source="DOID:0111065"} xref: SCTID:763533003 {source="MONDO:equivalentTo"} is_a: EFO:0008525 {source="DC-OMIM:605726", source="DOID:0111065", source="MESH:C535715"} ! spinal muscular atrophy is_a: MONDO:0015363 {source="Orphanet:139552"} ! autosomal recessive distal hereditary motor neuropathy property_value: exactMatch DOID:0111065 property_value: exactMatch http://identifiers.org/mesh/C535715 property_value: exactMatch http://identifiers.org/snomedct/763533003 property_value: exactMatch https://omim.org/entry/605726 property_value: exactMatch Orphanet:139552 [Term] id: MONDO:0011595 name: nonsyndromic congenital nail disorder 7 comment: Editor note: Orphanet classifies as both syndromic and isolated. See https://github.com/monarch-initiative/mondo-build/issues/49 subset: ordo_disease {source="Orphanet:79144"} synonym: "COIF" EXACT ABBREVIATION [Orphanet:79144] synonym: "COIF syndrome" EXACT [Orphanet:79144] synonym: "congenital isolated nail dysplasia" RELATED [GARD:0009761] synonym: "congenital onychodysplasia of the index fingers" EXACT [Orphanet:79144] synonym: "Iso-Kikuchi syndrome" EXACT [Orphanet:79144] synonym: "isolated congenital nail dysplasia" RELATED [GARD:0009761] synonym: "isolated congenital onychodysplasia" RELATED [Orphanet:79144] synonym: "nail disorder, nonsyndromic congenital, 7" RELATED [MONDO:Lexical, OMIM:605779] synonym: "nail dysplasia, isolated congenital" RELATED [GARD:0009761] synonym: "NDNC7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605779] synonym: "nonsyndromic congenital nail disorder type 7" EXACT [DOID:0080085, MONDORULE:1] synonym: "onychodysplasia, isolated congenital" RELATED [OMIM:605779] xref: DOID:0080085 {source="MONDO:equivalentTo"} xref: MESH:C538333 {source="MONDO:equivalentTo"} xref: OMIM:605779 {source="Orphanet:79144/e", source="DOID:0080085", source="MONDO:equivalentTo", source="Orphanet:79144"} xref: Orphanet:79144 {source="OMIM:605779", source="MONDO:equivalentTo"} xref: SCTID:403281007 {source="MONDO:equivalentTo"} xref: UMLS:C1853984 {source="OMIM:605779", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:79144"} is_a: MONDO:0019284 {source="DC-OMIM:605779", source="OMIM:605779", source="Orphanet:79144"} ! inherited isolated nail anomaly relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch DOID:0080085 property_value: exactMatch http://identifiers.org/mesh/C538333 property_value: exactMatch http://identifiers.org/snomedct/403281007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853984 property_value: exactMatch https://omim.org/entry/605779 property_value: exactMatch Orphanet:79144 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0011599 name: birdshot chorioretinopathy def: "Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia." [Orphanet:179] subset: gard_rare {source="GARD:0005926"} subset: ordo_disease {source="Orphanet:179"} synonym: "birdshot chorioretinitis" EXACT [DOID:0111079, Orphanet:179] synonym: "birdshot chorioretinopathy" EXACT [OMIM:605808] synonym: "birdshot retinochoroiditis" EXACT [DOID:0111079, Orphanet:179] synonym: "birdshot retinochoroidopathy" EXACT [DOID:0111079, Orphanet:179] synonym: "BSCR" EXACT ABBREVIATION [DOID:0111079] synonym: "Bscr" RELATED [OMIM:605808] synonym: "multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disc" RELATED OMO:0003005 [] synonym: "multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disk" RELATED [GARD:0005926] synonym: "vitiliginous choroiditis" EXACT [DOID:0111079, Orphanet:179] xref: DOID:0111079 {source="MONDO:equivalentTo"} xref: MESH:C537630 {source="Orphanet:179/e", source="MONDO:equivalentTo", source="DOID:0111079", source="Orphanet:179"} xref: OMIM:605808 {source="Orphanet:179/e", source="MONDO:equivalentTo", source="DOID:0111079", source="Orphanet:179"} xref: Orphanet:179 {source="MONDO:equivalentTo", source="DOID:0111079", source="OMIM:605808"} xref: SCTID:231981005 {source="MONDO:equivalentTo"} xref: UMLS:C0339402 {source="MONDO:equivalentObsolete"} xref: UMLS:C1853959 {source="Orphanet:179/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:0111079", source="OMIM:605808", source="Orphanet:179"} is_a: MONDO:0019541 {source="Orphanet:179"} ! non-infectious posterior uveitis property_value: exactMatch DOID:0111079 property_value: exactMatch http://identifiers.org/mesh/C537630 property_value: exactMatch http://identifiers.org/snomedct/231981005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853959 property_value: exactMatch https://omim.org/entry/605808 property_value: exactMatch Orphanet:179 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5926/birdshot-chorioretinopathy xsd:anyURI {source="GARD:0005926"} [Term] id: MONDO:0011601 name: neonatal intrahepatic cholestasis due to citrin deficiency def: "Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia." [Orphanet:247598] subset: ordo_disease {source="Orphanet:247598"} synonym: "cholestasis, neonatal intrahepatic, caused by citrin deficiency" RELATED [OMIM:605814] synonym: "citrullinemia, type II, neonatal-onset" RELATED [OMIM:605814] synonym: "citrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidaemia" RELATED OMO:0003005 [] synonym: "citrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidemia" RELATED [OMIM:605814] synonym: "neonatal intrahepatic cholestasis caused by citrin deficiency" EXACT [Orphanet:247598] synonym: "neonatal intrahepatic cholestasis due to citrin deficiency" EXACT [] synonym: "neonatal-onset citrullinemia type 2" RELATED [GARD:0010214] synonym: "neonatal-onset citrullinemia type II" RELATED [GARD:0010214] synonym: "NICCD" EXACT ABBREVIATION [Orphanet:247598] xref: DOID:0070341 {source="MONDO:equivalentTo"} xref: MESH:C536398 {source="MONDO:equivalentTo"} xref: OMIM:605814 {source="Orphanet:247598", source="MONDO:equivalentTo", source="Orphanet:247598/e"} xref: Orphanet:247598 {source="MONDO:equivalentTo", source="OMIM:605814"} xref: SCTID:717155003 {source="MONDO:equivalentTo"} xref: UMLS:C1853942 {source="Orphanet:247598", source="MONDO:equivalentTo", source="OMIM:605814", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4274030 {source="MONDO:equivalentTo"} is_a: MONDO:0016602 {source="Orphanet:247598"} ! citrin deficiency property_value: exactMatch DOID:0070341 property_value: exactMatch http://identifiers.org/mesh/C536398 property_value: exactMatch http://identifiers.org/snomedct/717155003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853942 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274030 property_value: exactMatch https://omim.org/entry/605814 property_value: exactMatch Orphanet:247598 [Term] id: MONDO:0011603 name: GNE myopathy def: "Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps." [Orphanet:602] subset: ordo_disease {source="Orphanet:602"} synonym: "distal myopathy with rimmed vacuoles" EXACT [Orphanet:602] synonym: "distal myopathy, Nonaka type" EXACT [Orphanet:602] synonym: "DMRV" EXACT ABBREVIATION [Orphanet:602] synonym: "hereditary inclusion body myopathy type 2" EXACT [Orphanet:602] synonym: "HIBM2" EXACT ABBREVIATION [Orphanet:602] synonym: "IBM2" EXACT ABBREVIATION [Orphanet:602] synonym: "inclusion body myopathy 2, autosomal recessive" RELATED [OMIM:605820] synonym: "inclusion body myopathy 2, autosomal recessive, formerly" RELATED [OMIM:605820] synonym: "inclusion body myopathy autosomal recessive" EXACT [OMIM:605820] synonym: "inclusion body myopathy type 2" EXACT [Orphanet:602] synonym: "inclusion body myopathy, autosomal recessive" RELATED [GARD:0009493] synonym: "inclusion body myopathy, hereditary, autosomal recessive" RELATED [OMIM:605820] synonym: "inclusion body myopathy, quadriceps-sparing" RELATED [GARD:0009493, OMIM:605820] synonym: "myopathy, distal, with or without rimmed vacuoles" RELATED [OMIM:605820] synonym: "myopathy, distal, with rimmed vacuoles" RELATED [OMIM:605820] synonym: "NM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605820] synonym: "Nonaka distal myopathy" RELATED [OMIM:605820] synonym: "Nonaka myopathy" EXACT [MONDO:Lexical, OMIM:605820, Orphanet:602] synonym: "QSM" RELATED ABBREVIATION [GARD:0009493] synonym: "quadriceps sparing myopathy" RELATED [GARD:0009493] synonym: "quadriceps-sparing myopathy" EXACT [Orphanet:602] synonym: "rimmed vacuole myopathy" RELATED [GARD:0009493] xref: DOID:0080718 {source="MONDO:equivalentTo"} xref: OMIM:605820 {source="Orphanet:602", source="MONDO:equivalentTo", source="Orphanet:602/e"} xref: Orphanet:602 {source="OMIM:605820", source="MONDO:equivalentTo"} xref: SCTID:702382000 {source="MONDO:equivalentTo"} is_a: EFO:0007323 {source="OMIM:605820/inferred"} ! inclusion body myositis is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0009332 ! congenital hematological disorder is_a: MONDO:0016109 {source="Orphanet:602"} ! autosomal recessive distal myopathy is_a: MONDO:0016112 {source="Orphanet:602"} ! hereditary inclusion-body myopathy is_a: MONDO:0016200 {source="Orphanet:602"} ! qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase is_a: MONDO:0017749 {source="Orphanet:602"} ! disorder of multiple glycosylation is_a: MONDO:0018795 {source="Orphanet:602"} ! syndromic constitutional thrombocytopenia property_value: exactMatch DOID:0080718 property_value: exactMatch http://identifiers.org/snomedct/702382000 property_value: exactMatch https://omim.org/entry/605820 property_value: exactMatch Orphanet:602 [Term] id: MONDO:0011604 name: spondylo-ocular syndrome def: "Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows." [Orphanet:85194] subset: ordo_malformation_syndrome {source="Orphanet:85194"} synonym: "SOS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605822] synonym: "spondyloocular syndrome" RELATED [MONDO:Lexical, OMIM:605822] xref: OMIM:605822 {source="Orphanet:85194/e", source="MONDO:equivalentTo", source="Orphanet:85194"} xref: Orphanet:85194 {source="OMIM:605822", source="MONDO:equivalentTo"} xref: SCTID:715653007 {source="MONDO:equivalentTo"} is_a: MONDO:0020247 {source="Orphanet:85194"} ! congenital vitreoretinal dysplasia is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. property_value: exactMatch http://identifiers.org/snomedct/715653007 property_value: exactMatch https://omim.org/entry/605822 property_value: exactMatch Orphanet:85194 property_value: excluded_subClassOf MONDO:0019704 {source="Orphanet:85194"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0011605 name: generalized basaloid follicular hamartoma syndrome def: "Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported." [Orphanet:168632] subset: ordo_disease {source="Orphanet:168632"} synonym: "basaloid follicular hamartoma syndrome, generalized, autosomal dominant" RELATED [MONDO:Lexical, OMIM:605827] synonym: "GBFHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605827] xref: MESH:C565284 {source="MONDO:equivalentTo"} xref: OMIM:605827 {source="Orphanet:168632", source="MONDO:equivalentTo", source="Orphanet:168632/e"} xref: Orphanet:168632 {source="MONDO:equivalentTo", source="OMIM:605827"} xref: SCTID:766928004 {source="MONDO:equivalentTo"} xref: UMLS:C1853919 {source="Orphanet:168632", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:605827"} is_a: MONDO:0015950 {source="Orphanet:168632"} ! inherited skin tumor property_value: exactMatch http://identifiers.org/mesh/C565284 property_value: exactMatch http://identifiers.org/snomedct/766928004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853919 property_value: exactMatch https://omim.org/entry/605827 property_value: exactMatch Orphanet:168632 property_value: excluded_subClassOf MONDO:0019300 {source="Orphanet:168632"} [Term] id: MONDO:0011610 name: dimethylglycine dehydrogenase deficiency def: "An extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor. This is an n-of-1 use case where only one patient or family has been described with this disorder." [Orphanet:243343] subset: n_of_one {source="Orphanet:243343-textdef"} subset: ordo_disease {source="Orphanet:243343"} synonym: "dimethylglycine dehydrogenase activity disease" EXACT [MONDO:design_pattern] synonym: "dimethylglycine dehydrogenase deficiency" EXACT [MONDO:Lexical, OMIM:605850] synonym: "disorder of dimethylglycine dehydrogenase activity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "DMG dehydrogenase deficiency" EXACT [Orphanet:243343] synonym: "DMGDH deficiency" EXACT [Orphanet:243343] synonym: "Dmgdh deficiency" RELATED [OMIM:605850] synonym: "DMGDHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605850] xref: MESH:C565278 {source="MONDO:equivalentTo"} xref: OMIM:605850 {source="Orphanet:243343", source="MONDO:equivalentTo", source="Orphanet:243343/e"} xref: Orphanet:243343 {source="MONDO:equivalentTo", source="OMIM:605850"} xref: SCTID:719449007 {source="MONDO:equivalentTo"} xref: UMLS:C1853892 {source="Orphanet:243343", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:605850"} is_a: MONDO:0100477 {source="PMID:33340416"} ! disorder of methylamine metabolism property_value: exactMatch http://identifiers.org/mesh/C565278 property_value: exactMatch http://identifiers.org/snomedct/719449007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853892 property_value: exactMatch https://omim.org/entry/605850 property_value: exactMatch Orphanet:243343 property_value: excluded_subClassOf MONDO:0019239 {source="Orphanet:243343"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0011612 name: glycine encephalopathy def: "Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity." [Orphanet:407] subset: gard_rare {source="GARD:0007219"} subset: ordo_disease {source="Orphanet:407"} synonym: "GCE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605899] synonym: "GLYCINE encephalopathy" RELATED [OMIM:605899] synonym: "glycine encephalopathy" EXACT [MONDO:Lexical, OMIM:605899] synonym: "Glycine synthase deficiency" RELATED [GARD:0007219] synonym: "hyperglycinemia nonketotic" RELATED [GARD:0007219] synonym: "hyperglycinemia, Nonketotic" RELATED [OMIM:605899] synonym: "hyperglycinemia, transient neonatal" RELATED [OMIM:605899] synonym: "NKA" EXACT ABBREVIATION [Orphanet:407] synonym: "non-ketotic hyperglycinemia" EXACT [DOID:9268, Orphanet:407] synonym: "nonketotic hyperglycinemia" EXACT [DOID:9268] xref: DOID:9268 {source="MONDO:equivalentTo"} xref: ICD9:270.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C84937 {source="MONDO:equivalentTo", source="DOID:9268"} xref: OMIM:605899 {source="MONDO:equivalentTo", source="Orphanet:407", source="Orphanet:407/e", source="DOID:9268"} xref: Orphanet:407 {source="OMIM:605899", source="MONDO:equivalentTo"} xref: SCTID:237939006 {source="MONDO:equivalentTo", source="DOID:9268"} xref: UMLS:C0751748 {source="OMIM:605899", source="MONDO:equivalentTo", source="NCIT:C84937", source="Orphanet:407", source="MONDO:ncbi_mim2gene_medline", source="DOID:9268"} is_a: EFO:0005774 {source="NCIT:C84937"} ! brain disease is_a: MONDO:0004736 {source="DOID:9268", source="MONDO:indirect"} ! inborn disorder of amino acid metabolism is_a: MONDO:0019239 {source="MONDO:Redundant", source="Orphanet:407"} ! inborn disorder of serine family metabolism property_value: exactMatch DOID:9268 property_value: exactMatch http://identifiers.org/snomedct/237939006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751748 property_value: exactMatch https://omim.org/entry/605899 property_value: exactMatch NCIT:C84937 property_value: exactMatch Orphanet:407 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7219/glycine-encephalopathy xsd:anyURI {source="GARD:0007219"} [Term] id: MONDO:0011614 name: 3-hydroxy-3-methylglutaryl-CoA synthase deficiency def: "3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death." [Orphanet:35701] subset: gard_rare subset: ordo_disease {source="Orphanet:35701"} synonym: "3-hydroxy-3-methylglutaryl-CoA synthase deficiency" EXACT [] synonym: "3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency" RELATED [MONDO:Lexical, OMIM:605911] synonym: "HMG CoA synthetase deficiency" RELATED [GARD:0002712] synonym: "HMG-CoA synthase deficiency" EXACT [Orphanet:35701] synonym: "HMG-CoA synthase-2 deficiency" EXACT [OMIM:605911, OMIM:genemap2] synonym: "Hmgcs2 deficiency" RELATED [OMIM:605911] synonym: "HMGCS2D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605911] synonym: "mitochondrial HMG-Coa synthase deficiency" RELATED [OMIM:605911] xref: DOID:0081168 {source="MONDO:equivalentTo"} xref: MESH:C567784 {source="MONDO:equivalentTo"} xref: OMIM:605911 {source="Orphanet:35701", source="MONDO:equivalentTo", source="Orphanet:35701/e"} xref: Orphanet:35701 {source="OMIM:605911", source="MONDO:equivalentTo"} xref: SCTID:725286002 {source="MONDO:equivalentTo"} xref: UMLS:C2751532 {source="Orphanet:35701", source="OMIM:605911", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0017713 {source="Orphanet:35701"} ! disorder of fatty acid oxidation and ketogenesis property_value: exactMatch DOID:0081168 property_value: exactMatch http://identifiers.org/mesh/C567784 property_value: exactMatch http://identifiers.org/snomedct/725286002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751532 property_value: exactMatch https://omim.org/entry/605911 property_value: exactMatch Orphanet:35701 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011615 name: East Texas bleeding disorder subset: ordo_disease {source="Orphanet:391320"} synonym: "Bdet" RELATED [OMIM:605913] synonym: "bleeding disorder, EAST Texas type" RELATED [OMIM:605913] xref: MESH:C565275 {source="MONDO:equivalentTo"} xref: OMIM:605913 {source="MONDO:equivalentTo", source="Orphanet:391320", source="Orphanet:391320/e"} xref: Orphanet:391320 {source="MONDO:equivalentTo", source="OMIM:605913"} xref: UMLS:C1853831 {source="MONDO:equivalentTo", source="OMIM:605913", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:391320"} is_a: MONDO:0002242 {source="MONDO:0019039-obsoleted"} ! coagulation protein disease is_a: MONDO:0002243 ! hemorrhagic disease property_value: exactMatch http://identifiers.org/mesh/C565275 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853831 property_value: exactMatch https://omim.org/entry/605913 property_value: exactMatch Orphanet:391320 [Term] id: MONDO:0011620 name: metaphyseal dysplasia, Braun-Tinschert type def: "Metaphyseal dysplasia, Braun-Tinschert type is characterized by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions." [Orphanet:85188] subset: ordo_malformation_syndrome {source="Orphanet:85188"} synonym: "metaphyseal dysplasia, Braun-Tinschert type" EXACT [OMIM:605946] xref: MESH:C565271 {source="MONDO:equivalentTo"} xref: OMIM:605946 {source="Orphanet:85188", source="MONDO:equivalentTo", source="Orphanet:85188/e"} xref: Orphanet:85188 {source="MONDO:equivalentTo", source="OMIM:605946"} xref: SCTID:717221005 {source="MONDO:equivalentTo"} xref: UMLS:C1853825 {source="Orphanet:85188", source="MONDO:equivalentTo", source="OMIM:605946", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0800084 {source="PMID:31633310"} ! primary bone dysplasia with increased bone density property_value: exactMatch http://identifiers.org/mesh/C565271 property_value: exactMatch http://identifiers.org/snomedct/717221005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853825 property_value: exactMatch https://omim.org/entry/605946 property_value: exactMatch Orphanet:85188 property_value: excluded_subClassOf MONDO:0019703 {source="Orphanet:85188"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0011621 name: acropectoral syndrome def: "Acro-pectoral syndrome is characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. It has been described in 22 patients from a six-generation Turkish family. It is transmitted as an autosomal dominant trait and the causative gene is located at 7q36." [Orphanet:85203] subset: gard_rare {source="GARD:0008485"} subset: ordo_malformation_syndrome {source="Orphanet:85203"} synonym: "acro-pectoral syndrome" RELATED [GARD:0008485] synonym: "acropectoral syndrome" EXACT [MONDO:Lexical, OMIM:605967] synonym: "ACRP syndrome" EXACT [OMIM:605967, Orphanet:85203] synonym: "ACRPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605967] synonym: "Dundar Acropectoral syndrome" RELATED [OMIM:605967] synonym: "syndactyly, preaxial polydactyly and sternal deformity" RELATED [GARD:0008485] synonym: "syndactyly, preaxial polydactyly, and sternal deformity" RELATED [OMIM:605967] synonym: "syndactyly-preaxial polydactyly-sternal deformity syndrome" EXACT [Orphanet:85203] xref: MESH:C535664 {source="MONDO:equivalentTo"} xref: OMIM:605967 {source="Orphanet:85203", source="MONDO:equivalentTo", source="Orphanet:85203/e"} xref: Orphanet:85203 {source="MONDO:equivalentTo", source="OMIM:605967"} xref: SCTID:720412009 {source="MONDO:equivalentTo"} xref: UMLS:C1853812 {source="Orphanet:85203", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:605967"} is_a: MONDO:0019054 {source="Orphanet:85203"} ! congenital limb malformation is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism property_value: exactMatch http://identifiers.org/mesh/C535664 property_value: exactMatch http://identifiers.org/snomedct/720412009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853812 property_value: exactMatch https://omim.org/entry/605967 property_value: exactMatch Orphanet:85203 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8485/acropectoral-syndrome xsd:anyURI {source="GARD:0008485"} [Term] id: MONDO:0011624 name: transaldolase deficiency def: "Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities." [Orphanet:101028] subset: gard_rare {source="GARD:0010445"} subset: ordo_disease {source="Orphanet:101028"} synonym: "Eyaid syndrome" RELATED [OMIM:606003] synonym: "TALDO deficiency" EXACT [Orphanet:101028] synonym: "Taldo deficiency" RELATED [OMIM:606003] synonym: "transaldolase deficiency" EXACT [OMIM:606003] xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563207 {source="MONDO:equivalentTo"} xref: OMIM:606003 {source="MONDO:equivalentTo", source="Orphanet:101028", source="Orphanet:101028/e"} xref: Orphanet:101028 {source="MONDO:equivalentTo", source="OMIM:606003"} xref: SCTID:124252008 {source="MONDO:equivalentTo"} xref: UMLS:C1291329 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:101028", source="Orphanet:101028/e", source="OMIM:606003"} is_a: MONDO:0019231 {source="Orphanet:101028", source="PMID:33340416"} ! inborn disorder of pentose phosphate metabolism property_value: exactMatch http://identifiers.org/mesh/C563207 property_value: exactMatch http://identifiers.org/snomedct/124252008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1291329 property_value: exactMatch https://omim.org/entry/606003 property_value: exactMatch Orphanet:101028 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10445/transaldolase-deficiency xsd:anyURI {source="GARD:0010445"} [Term] id: MONDO:0011628 name: propionic acidemia def: "Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy." [Orphanet:35] subset: gard_rare {source="GARD:0000467"} subset: ordo_disease {source="Orphanet:35"} synonym: "GLYCINEMIA, ketotic" EXACT [DOID:14701] synonym: "Glycinemia, ketotic" RELATED [OMIM:606054] synonym: "hyperglycinemia with ketoacidosis and leukopenia" RELATED [OMIM:606054] synonym: "ketotic glycinemia" EXACT [DOID:14701] synonym: "ketotic hyperglycinemia" EXACT [DOID:14701, OMIM:606054, Orphanet:35] synonym: "ketotic II glycinemia" EXACT [DOID:14701] synonym: "PCC deficiency" RELATED [OMIM:606054] synonym: "prop" RELATED [GARD:0000467] synonym: "propionic acidemia" EXACT [OMIM:606054] synonym: "propionic aciduria" EXACT [DOID:14701, Orphanet:35] synonym: "Propionicacidemia" RELATED [GARD:0000467] synonym: "propionyl-CoA carboxylase deficiency" EXACT [DOID:14701, Orphanet:35] synonym: "propionyl-Coa carboxylase deficiency" RELATED [OMIM:606054] xref: DOID:14701 {source="MONDO:equivalentTo"} xref: ICD10CM:E71.121 {source="DOID:14701", source="MONDO:equivalentTo"} xref: MESH:D056693 {source="DOID:14701", source="Orphanet:35", source="MONDO:equivalentTo", source="Orphanet:35/e"} xref: NCIT:C85030 {source="DOID:14701", source="MONDO:equivalentTo"} xref: OMIM:606054 {source="DOID:14701", source="Orphanet:35", source="MONDO:equivalentTo", source="Orphanet:35/e"} xref: Orphanet:35 {source="MONDO:equivalentTo", source="OMIM:606054"} xref: SCTID:69080001 {source="DOID:14701", source="MONDO:equivalentTo"} xref: UMLS:C0268579 {source="DOID:14701", source="Orphanet:35", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C85030", source="OMIM:606054", source="Orphanet:35/e"} is_a: MONDO:0019215 {source="Orphanet:35"} ! classic organic aciduria property_value: exactMatch DOID:14701 property_value: exactMatch http://identifiers.org/mesh/D056693 property_value: exactMatch http://identifiers.org/snomedct/69080001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268579 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E71.121 property_value: exactMatch https://omim.org/entry/606054 property_value: exactMatch NCIT:C85030 property_value: exactMatch Orphanet:35 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/467/propionic-acidemia xsd:anyURI {source="GARD:0000467"} [Term] id: MONDO:0011629 name: MOGS-congenital disorder of glycosylation def: "MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1)." [Orphanet:79330] subset: ordo_disease {source="Orphanet:79330"} synonym: "carbohydrate deficient glycoprotein syndrome type IIb" EXACT [Orphanet:79330] synonym: "CDG 2B" RELATED [GARD:0010767] synonym: "CDG IIb" RELATED [OMIM:606056] synonym: "CDG syndrome type IIb" EXACT [Orphanet:79330] synonym: "CDG-IIb" EXACT [Orphanet:79330] synonym: "CDG2B" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606056, Orphanet:79330] synonym: "congenital disorder of glycosylation type 2b" EXACT [Orphanet:79330] synonym: "congenital disorder of glycosylation type IIb" EXACT [Orphanet:79330] synonym: "congenital disorder of glycosylation, type IIb" RELATED [MONDO:Lexical, OMIM:606056] synonym: "GCS1-CDG" RELATED [GARD:0010767] synonym: "glucosidase 1 deficiency" EXACT [OMIM:606056, Orphanet:79330] synonym: "MOGS-CDG" EXACT ABBREVIATION [Orphanet:79330] synonym: "MOGS-CDG (CDG-IIb)" RELATED [GARD:0010767] synonym: "MOGS-congenital disorder of glycosylation" EXACT [] xref: DOID:0070254 {source="MONDO:equivalentTo"} xref: MESH:C565264 {source="MONDO:equivalentTo"} xref: OMIM:606056 {source="Orphanet:79330/e", source="MONDO:equivalentTo", source="Orphanet:79330"} xref: Orphanet:79330 {source="MONDO:equivalentTo", source="OMIM:606056"} xref: SCTID:725028009 {source="MONDO:equivalentTo"} xref: UMLS:C1853736 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:79330", source="OMIM:606056"} is_a: EFO:0005546 {source="DC-OMIM:606056", source="OMIM:606056"} ! congenital disorder of glycosylation type II is_a: MONDO:0017740 {source="Orphanet:79330"} ! disorder of protein N-glycosylation relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch DOID:0070254 property_value: exactMatch http://identifiers.org/mesh/C565264 property_value: exactMatch http://identifiers.org/snomedct/725028009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853736 property_value: exactMatch https://omim.org/entry/606056 property_value: exactMatch Orphanet:79330 [Term] id: MONDO:0011631 name: hemochromatosis type 4 def: "A form of rare hemochromatosis (HC) characterized by increased transferrin saturation and hepatocellular iron deposition with distribution patterns and clinical features indistinguishable from patients with other types of HC." [Orphanet:647834] subset: gard_rare {source="GARD:0010094"} subset: ordo_disease {source="Orphanet:139491"} synonym: "autosomal dominant hereditary hemochromatosis" EXACT [DOID:0111028] synonym: "ferroportin disease" EXACT [DOID:0111028, Orphanet:648562] synonym: "hemochromatosis due to defect in ferroportin" EXACT [DOID:0111028, OMIM:606069] synonym: "hemochromatosis, autosomal dominant" RELATED [OMIM:606069] synonym: "hemochromatosis, type 4" RELATED [MONDO:Lexical, OMIM:606069] synonym: "hereditary hemochromatosis caused by mutation in SLC40A1" EXACT [MONDO:design_pattern] synonym: "HFE4" EXACT ABBREVIATION [DOID:0111028, MONDO:Lexical, OMIM:606069] synonym: "SLC40A1 hereditary hemochromatosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111028 {source="MONDO:equivalentTo"} xref: MESH:C537249 {source="DOID:0111028", source="MONDO:equivalentTo", source="Orphanet:139491", source="Orphanet:139491/e"} xref: OMIM:606069 {source="DOID:0111028", source="MONDO:equivalentTo", source="Orphanet:139491", source="Orphanet:139491/e"} xref: Orphanet:139491 {source="DOID:0111028", source="MONDO:equivalentObsolete", source="OMIM:606069"} xref: Orphanet:648562 {source="MONDO:equivalentTo"} xref: SCTID:719975002 {source="MONDO:equivalentTo"} xref: UMLS:C1853733 {source="DOID:0111028", source="MONDO:equivalentTo", source="Orphanet:139491", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:139491/e", source="OMIM:606069"} is_a: MONDO:0006507 {source="DOID:0111028", source="MESH:C537249", source="MONDO:Redundant", source="OMIM:606069", source="Orphanet:139491"} ! hereditary hemochromatosis relationship: has_characteristic MONDO:0021136 {source="MONDO:0016363"} ! rare property_value: exactMatch DOID:0111028 property_value: exactMatch http://identifiers.org/mesh/C537249 property_value: exactMatch http://identifiers.org/snomedct/719975002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853733 property_value: exactMatch https://omim.org/entry/606069 property_value: exactMatch Orphanet:648562 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10094/hemochromatosis-type-4 xsd:anyURI {source="GARD:0010094"} [Term] id: MONDO:0011633 name: Charcot-Marie-Tooth disease axonal type 2C def: "Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade." [Orphanet:99937] subset: gard_rare subset: ordo_disease {source="Orphanet:99937"} synonym: "autosomal cominant axonal Charcot-Marie-Tooth disease type 2C" EXACT [DOID:0110182] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2C" EXACT [DOID:0110182] synonym: "Charcot Marie Tooth disease type 2C" RELATED [GARD:0001250] synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in TRPV4" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease type 2C" RELATED [GARD:0001250] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2C" RELATED [OMIM:606071] synonym: "Charcot-Marie-Tooth disease, axonal, type 2C" RELATED [GARD:0001250] synonym: "Charcot-Marie-Tooth neuropathy type 2C" EXACT [DOID:0110182] synonym: "Charcot-Marie-Tooth neuropathy, type 2C" RELATED [OMIM:606071] synonym: "CMT 2C" RELATED [GARD:0001250] synonym: "CMT2C" EXACT ABBREVIATION [DOID:0110182, Orphanet:99937] synonym: "hereditary motor and sensory neuropathy 2 C" RELATED [GARD:0001250] synonym: "hereditary motor and sensory neuropathy type IIc" EXACT [DOID:0110182] synonym: "hereditary motor and sensory neuropathy, type 2C" RELATED [OMIM:606071] synonym: "hereditary motor and sensory neuropathy, type IIC" RELATED [MONDO:Lexical, OMIM:606071] synonym: "HMSN 2 C" RELATED [GARD:0001250] synonym: "HMSN 2C" RELATED [OMIM:606071] synonym: "HMSN2C" EXACT ABBREVIATION [DOID:0110182, MONDO:Lexical, OMIM:606071] synonym: "TRPV4 Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110182 {source="MONDO:equivalentTo"} xref: OMIM:606071 {source="MONDO:equivalentTo", source="DOID:0110182", source="Orphanet:99937", source="GARD:0001250", source="Orphanet:99937/e"} xref: Orphanet:99937 {source="OMIM:606071", source="MONDO:equivalentTo", source="DOID:0110182"} xref: SCTID:717010007 {source="MONDO:equivalentTo"} is_a: MONDO:0002316 {source="DC-OMIM:606071"} ! motor peripheral neuropathy is_a: MONDO:0018993 {source="DOID:0110182", source="MONDO:Redundant", source="Orphanet:99937"} ! Charcot-Marie-Tooth disease type 2 property_value: exactMatch DOID:0110182 property_value: exactMatch http://identifiers.org/snomedct/717010007 property_value: exactMatch https://omim.org/entry/606071 property_value: exactMatch Orphanet:99937 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1250/charcot-marie-tooth-disease-type-2c xsd:anyURI {source="GARD:0001250"} [Term] id: MONDO:0011634 name: rippling muscle disease def: "A benign myopathy with symptoms and signs of muscular hyperexcitability. The typical finding is electrically silent muscle contractions provoked by mechanical stimuli and stretch" [doi:10.1002/mus.10156, MONDO:cjm] xref: ICD9:359.29 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10069417 {source="Orphanet:97238", source="Orphanet:97238/e"} xref: SCTID:709281006 {source="MONDO:equivalentTo"} is_a: EFO:0004145 ! myopathy property_value: closeMatch http://identifiers.org/meddra/10069417 property_value: exactMatch http://identifiers.org/snomedct/709281006 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9164/rippling-muscle-disease xsd:anyURI {source="GARD:0009164"} [Term] id: MONDO:0011638 name: neuroferritinopathy def: "Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA) characterized by progressive chorea or dystonia and subtle cognitive deficits." [Orphanet:157846] comment: Editor note: consider relation to basal ganglia subset: ordo_disease {source="Orphanet:157846"} synonym: "adult basal ganglia disease" EXACT [DOID:0110737, Orphanet:157846] synonym: "basal ganglia disease adult-onset" RELATED [GARD:0010686] synonym: "basal ganglia disease, adult-onset" RELATED [OMIM:606159] synonym: "ferritin-related neurodegeneration" EXACT [DOID:0110737, Orphanet:157846] synonym: "hereditary ferritinopathy" EXACT [DOID:0110737, Orphanet:157846] synonym: "NBIA3" EXACT ABBREVIATION [DOID:0110737, MONDO:Lexical, OMIM:606159] synonym: "neurodegeneration with brain iron accumulation 3" RELATED [MONDO:Lexical, OMIM:606159] synonym: "neurodegeneration with brain iron accumulation type 3" EXACT [DOID:0110737, MONDORULE:1, OMIM:606159] synonym: "neuroferritinopathy" EXACT [DOID:0110737, OMIM:606159] synonym: "Neuroferritinopathy; basal ganglia disease, adult-onset" EXACT [DOID:0110737] xref: DOID:0110737 {source="MONDO:equivalentTo"} xref: ICD9:333.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C548080 {source="MONDO:equivalentTo", source="DOID:0110737", source="Orphanet:157846", source="Orphanet:157846/e"} xref: OMIM:606159 {source="MONDO:equivalentTo", source="DOID:0110737", source="Orphanet:157846", source="Orphanet:157846/e"} xref: Orphanet:157846 {source="OMIM:606159", source="MONDO:equivalentTo", source="DOID:0110737"} xref: SCTID:699299001 {source="MONDO:equivalentTo"} xref: UMLS:C1853578 {source="OMIM:606159", source="MONDO:equivalentTo", source="DOID:0110737", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:157846", source="Orphanet:157846/e"} is_a: MONDO:0015548 {source="Orphanet:157846"} ! Huntington disease-like syndrome is_a: MONDO:0017763 {source="Orphanet:157846"} ! disorder of iron metabolism and transport is_a: MONDO:0018307 {source="DC-OMIM:606159", source="DOID:0110737", source="OMIM:606159", source="Orphanet:157846"} ! neurodegeneration with brain iron accumulation property_value: exactMatch DOID:0110737 property_value: exactMatch http://identifiers.org/mesh/C548080 property_value: exactMatch http://identifiers.org/snomedct/699299001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853578 property_value: exactMatch https://omim.org/entry/606159 property_value: exactMatch Orphanet:157846 [Term] id: MONDO:0011640 name: genitopatellar syndrome def: "Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency." [Orphanet:85201] subset: gard_rare {source="GARD:0010994"} subset: ordo_malformation_syndrome {source="Orphanet:85201"} synonym: "absent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and intellectual disability" RELATED [OMIM:606170] synonym: "absent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and mental retardation" RELATED DEPRECATED [OMIM:606170] synonym: "absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome" EXACT [Orphanet:85201] synonym: "GENITOPATELLAR syndrome" RELATED [OMIM:606170] synonym: "genitopatellar syndrome" EXACT [MONDO:Lexical, OMIM:606170] synonym: "GTPTS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606170] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C565255 {source="MONDO:equivalentTo"} xref: OMIM:606170 {source="Orphanet:85201", source="MONDO:equivalentTo", source="Orphanet:85201/e"} xref: Orphanet:85201 {source="OMIM:606170", source="MONDO:equivalentTo"} xref: SCTID:702367005 {source="MONDO:equivalentTo"} xref: UMLS:C1853566 {source="Orphanet:85201", source="OMIM:606170", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015159 {source="Orphanet:85201"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0019712 {source="Orphanet:85201", source="PMID:31633310"} ! patellar dysostosis property_value: exactMatch http://identifiers.org/mesh/C565255 property_value: exactMatch http://identifiers.org/snomedct/702367005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853566 property_value: exactMatch https://omim.org/entry/606170 property_value: exactMatch Orphanet:85201 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:85201"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10994/genitopatellar-syndrome xsd:anyURI {source="GARD:0010994"} [Term] id: MONDO:0011650 name: atrioventricular septal defect, susceptibility to, 2 def: "Any atrioventricular septal defect in which the cause of the disease is a mutation in the CRELD1 gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition synonym: "atrioventricular septal defect caused by mutation in CRELD1" EXACT [MONDO:design_pattern] synonym: "atrioventricular septal defect, partial, with heterotaxy syndrome" RELATED [OMIM:606217] synonym: "atrioventricular septal defect, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:606217] synonym: "atrioventricular septal defect, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:606217] synonym: "AVSD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606217] synonym: "CRELD1 atrioventricular septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "susceptibility to atrioventricular septal defect 2" RELATED [OMIM:606217] xref: MESH:C565249 {source="MONDO:equivalentTo"} xref: OMIM:606217 {source="MONDO:equivalentTo"} is_a: MONDO:0020573 ! inherited disease susceptibility relationship: predisposes_towards MONDO:0020290 ! familial atrioventricular septal defect property_value: exactMatch http://identifiers.org/mesh/C565249 property_value: exactMatch https://omim.org/entry/606217 [Term] id: MONDO:0011652 name: Phelan-McDermid syndrome def: "Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features." [Orphanet:48652] subset: ordo_malformation_syndrome {source="Orphanet:48652"} synonym: "22q13 deletion" EXACT [Orphanet:48652] synonym: "22q13.3 deletion syndrome" RELATED [GARD:0010130] synonym: "chromosome 22Q13.3 deletion syndrome" RELATED [OMIM:606232] synonym: "deletion 22q13.3 syndrome" RELATED [GARD:0010130] synonym: "monosomy 22q13" EXACT [] synonym: "monosomy type 22q13" EXACT [MONDORULE:7, Orphanet:48652] synonym: "Phelan McDermid syndrome" EXACT [PMID:28346892] synonym: "PHELAN-McDermid syndrome" RELATED [MONDO:Lexical, OMIM:606232] synonym: "Phelan-McDermid syndrome" EXACT [Orphanet:48652] synonym: "PHMDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606232] synonym: "telomeric 22Q13 monosomy syndrome" RELATED [OMIM:606232] xref: DECIPHER:20 {source="MONDO:equivalentTo"} xref: DOID:0080354 {source="MONDO:equivalentTo"} xref: ICD9:758.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536801 {source="MONDO:equivalentTo"} xref: NCIT:C157124 {source="MONDO:equivalentTo"} xref: OMIM:606232 {source="Orphanet:48652/e", source="MONDO:equivalentTo", source="Orphanet:48652"} xref: Orphanet:48652 {source="MONDO:equivalentTo", source="OMIM:606232"} xref: SCTID:699310000 {source="MONDO:equivalentTo"} xref: UMLS:C1853490 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:48652", source="OMIM:606232"} is_a: MONDO:0022760 {source="Orphanet:48652"} ! chromosome 22q deletion property_value: exactMatch DOID:0080354 property_value: exactMatch http://identifiers.org/mesh/C536801 property_value: exactMatch http://identifiers.org/snomedct/699310000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853490 property_value: exactMatch https://omim.org/entry/606232 property_value: exactMatch NCIT:C157124 property_value: exactMatch Orphanet:48652 [Term] id: MONDO:0011661 name: inflammatory bowel disease 5 def: "An inflammatory bowel disease that has material basis in variation in the chromosome region 5q31." [DOID:0110889, PMID:11586304] synonym: "IBD5" EXACT ABBREVIATION [DOID:0110889, MONDO:Lexical, OMIM:606348] synonym: "inflammatory bowel disease 5" EXACT [MONDO:Lexical, OMIM:606348] synonym: "inflammatory bowel disease type 5" EXACT [DOID:0110889, MONDORULE:1] xref: DOID:0110889 {source="MONDO:equivalentTo"} xref: MESH:C565234 {source="MONDO:equivalentTo"} xref: OMIM:606348 {source="DOID:0110889", source="MONDO:equivalentTo"} xref: UMLS:C1853438 {source="OMIM:606348", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0003767 {source="DC-OMIM:606348", source="DOID:0110889", source="MESH:C565234", source="OMIM:606348"} ! inflammatory bowel disease property_value: exactMatch DOID:0110889 property_value: exactMatch http://identifiers.org/mesh/C565234 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853438 property_value: exactMatch https://omim.org/entry/606348 [Term] id: MONDO:0011663 name: juvenile primary lateral sclerosis def: "Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production." [Orphanet:247604] subset: gard_rare {source="GARD:0004485"} subset: ordo_disease {source="Orphanet:247604"} synonym: "JPLS" EXACT ABBREVIATION [Orphanet:247604] synonym: "juvenile PLS" EXACT [Orphanet:247604] synonym: "PLS juvenile" RELATED [GARD:0004485] synonym: "Pls, juvenile" RELATED [OMIM:606353] synonym: "PLSJ" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606353] synonym: "primary lateral sclerosis, juvenile" RELATED [GARD:0004485, MONDO:Lexical, OMIM:606353] xref: MESH:C536416 {source="MONDO:equivalentTo", source="Orphanet:247604", source="Orphanet:247604/e"} xref: OMIM:606353 {source="MONDO:equivalentTo", source="Orphanet:247604", source="Orphanet:247604/e"} xref: Orphanet:247604 {source="MONDO:equivalentTo", source="OMIM:606353"} xref: SCTID:717964007 {source="MONDO:equivalentTo"} xref: UMLS:C1853396 {source="MONDO:equivalentTo", source="Orphanet:247604", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:247604/e", source="OMIM:606353"} is_a: MONDO:0018155 {source="DC-OMIM:606353"} ! lateral sclerosis is_a: MONDO:0100227 ! ALS2-related motor neuron disease property_value: exactMatch http://identifiers.org/mesh/C536416 property_value: exactMatch http://identifiers.org/snomedct/717964007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853396 property_value: exactMatch https://omim.org/entry/606353 property_value: exactMatch Orphanet:247604 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4485/juvenile-primary-lateral-sclerosis xsd:anyURI {source="GARD:0004485"} [Term] id: MONDO:0011664 name: immunodeficiency due to CD25 deficiency subset: ordo_disease {source="Orphanet:169100"} synonym: "CD25 deficiency" RELATED [OMIM:606367] synonym: "IL2RA deficiency" RELATED [OMIM:606367] synonym: "IMD41" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606367] synonym: "immunodeficiency 41 with lymphoproliferation and autoimmunity" RELATED [MONDO:Lexical, OMIM:606367] synonym: "immunodeficiency due to CD25 deficiency" EXACT [] synonym: "Interleukin 2 receptor, alpha, deficiency of" RELATED [OMIM:606367] synonym: "Interleukin-2 receptor alpha chain deficiency" EXACT [Orphanet:169100] xref: DOID:0111968 {source="MONDO:equivalentTo"} xref: MESH:C565232 {source="MONDO:equivalentTo"} xref: OMIM:606367 {source="Orphanet:169100/e", source="MONDO:equivalentTo", source="Orphanet:169100"} xref: Orphanet:169100 {source="MONDO:equivalentTo", source="OMIM:606367"} xref: UMLS:C1853392 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:606367"} is_a: MONDO:0021094 {source="https://orcid.org/0000-0001-5208-3432"} ! immunodeficiency disease property_value: exactMatch DOID:0111968 property_value: exactMatch http://identifiers.org/mesh/C565232 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853392 property_value: exactMatch https://omim.org/entry/606367 property_value: exactMatch Orphanet:169100 [Term] id: MONDO:0011667 name: maturity-onset diabetes of the young type 4 def: "Monogenic diabetes caused by inactivating mutation(s) in the PDX1 gene, encoding pancreas/duodenum homeobox protein 1. Homozygous PDX1 mutations result in permanent neonatal diabetes." [NCIT:C129746] subset: gard_rare {source="GARD:0010659"} synonym: "diabetes mellitus MODY type 4" RELATED [GARD:0010659] synonym: "maturity onset diabetes of the Young, type 4" EXACT [NCIT:C129746] synonym: "maturity-onset diabetes of the young (disease) caused by mutation in PDX1" EXACT [] synonym: "maturity-onset diabetes of the young, type 4" RELATED [MONDO:Lexical, OMIM:606392] synonym: "MODY insulin promoter factor-1 related" RELATED [GARD:0010659] synonym: "MODY type 4" EXACT [DOID:0111103] synonym: "MODY, type 4" RELATED [OMIM:606392] synonym: "MODY, type IV" EXACT [OMIM:606392, OMIM:genemap2] synonym: "MODY4" EXACT ABBREVIATION [DOID:0111103, MONDO:Lexical, OMIM:606392] synonym: "PDX1 maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "PDX1-associated monogenic diabetes" EXACT [NCIT:C129746] synonym: "type 4 maturity-onset diabetes of the young" RELATED [GARD:0010659] xref: DOID:0111103 {source="MONDO:equivalentTo"} xref: MESH:C563451 {source="MONDO:equivalentTo"} xref: NCIT:C129746 {source="MONDO:equivalentTo"} xref: OMIM:606392 {source="MONDO:equivalentTo", source="DOID:0111103"} xref: SCTID:609571007 {source="MONDO:equivalentTo"} is_a: MONDO:0018911 {source="DC-OMIM:606392", source="DOID:0111103", source="MONDO:Redundant"} ! maturity-onset diabetes of the young property_value: exactMatch DOID:0111103 property_value: exactMatch http://identifiers.org/mesh/C563451 property_value: exactMatch http://identifiers.org/snomedct/609571007 property_value: exactMatch https://omim.org/entry/606392 property_value: exactMatch NCIT:C129746 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10659/maturity-onset-diabetes-of-the-young-type-4 xsd:anyURI {source="GARD:0010659"} [Term] id: MONDO:0011668 name: maturity-onset diabetes of the young type 6 def: "Monogenic diabetes caused by inactivating mutation(s) in the gene NEUROD1, encoding neurogenic differentiation 1. In addition to diabetes, this condition may be associated with neurogenic anomalies. Homozygous NEUROD1 mutations result in permanent neonatal diabetes." [NCIT:C129745] subset: gard_rare {source="GARD:0010660"} synonym: "diabetes mellitus MODY type 6" RELATED [GARD:0010660] synonym: "maturity onset diabetes of the Young, type 6" EXACT [NCIT:C129745] synonym: "maturity-onset diabetes of the young (disease) caused by mutation in NEUROD1" EXACT [] synonym: "maturity-onset diabetes of the young 6" EXACT [OMIM:606394, OMIM:genemap2] synonym: "maturity-onset diabetes of the young, type 6" RELATED [MONDO:Lexical, OMIM:606394] synonym: "MODY NEUROD1 related" RELATED [GARD:0010660] synonym: "MODY type 6" EXACT [DOID:0111104] synonym: "MODY, type 6" RELATED [OMIM:606394] synonym: "MODY6" EXACT ABBREVIATION [DOID:0111104, MONDO:Lexical, OMIM:606394] synonym: "NEUROD1 maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "NEUROD1-associated monogenic diabetes" EXACT [NCIT:C129745] synonym: "neurogenic differentiation Factor 1-associated monogenic diabetes" EXACT [NCIT:C129745] synonym: "type 6 maturity-onset diabetes of the young" RELATED [GARD:0010660] xref: DOID:0111104 {source="MONDO:equivalentTo"} xref: MESH:C565231 {source="MONDO:equivalentTo"} xref: NCIT:C129745 {source="MONDO:equivalentTo"} xref: OMIM:606394 {source="MONDO:equivalentTo", source="DOID:0111104"} xref: SCTID:609573005 {source="MONDO:equivalentTo"} xref: UMLS:C1853371 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:606394", source="NCIT:C129745"} is_a: MONDO:0018911 {source="DC-OMIM:606394", source="DOID:0111104", source="MONDO:Redundant"} ! maturity-onset diabetes of the young property_value: exactMatch DOID:0111104 property_value: exactMatch http://identifiers.org/mesh/C565231 property_value: exactMatch http://identifiers.org/snomedct/609573005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853371 property_value: exactMatch https://omim.org/entry/606394 property_value: exactMatch NCIT:C129745 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10660/maturity-onset-diabetes-of-the-young-type-6 xsd:anyURI {source="GARD:0010660"} [Term] id: MONDO:0011669 name: hypotonia-cystinuria syndrome def: "A rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." [Orphanet:163690] subset: disease_grouping subset: ordo_disease {source="Orphanet:163690"} subset: ordo_group_of_disorders {source="Orphanet:238517"} synonym: "cystinuria with mitochondrial disease" EXACT [DOID:0060858, OMIM:606407] synonym: "HCS" EXACT ABBREVIATION [Orphanet:163690] synonym: "homozygous 2P16 deletion syndrome" RELATED [OMIM:606407] synonym: "homozygous 2P16 deletion syndrome, formerly" RELATED [OMIM:606407] synonym: "homozygous 2P21 deletion syndrome" RELATED [OMIM:606407] synonym: "hypotonia-cystinuria syndrome" EXACT [OMIM:606407] synonym: "hypotonia-cystinuria syndrome type 1" EXACT [MONDO:0016538] synonym: "hypotonia-cystinuria type 1 syndrome" EXACT [Orphanet:238517] xref: DOID:0060858 {source="MONDO:equivalentTo"} xref: EFO:0007550 {source="MONDO:equivalentTo"} xref: MESH:C564710 {source="MONDO:equivalentTo"} xref: OMIM:606407 {source="Orphanet:163690", source="MONDO:equivalentTo", source="Orphanet:163690/e", source="DOID:0060858"} xref: Orphanet:163690 {source="MONDO:equivalentTo", source="OMIM:606407", source="DOID:0060858"} xref: Orphanet:238517 {source="MONDO:equivalentTo"} xref: SCTID:721173005 {source="MONDO:equivalentTo"} xref: UMLS:CN226952 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="DOID:0060858"} ! syndromic disease is_a: MONDO:0004069 {source="Orphanet:238517"} ! inborn mitochondrial metabolism disorder is_a: MONDO:0018246 {source="Orphanet:238517"} ! homozygous 2p21 microdeletion syndrome is_a: MONDO:0019216 {source="Orphanet:238517", source="PMID:33340416"} ! inborn disorder of amino acid transport property_value: exactMatch DOID:0060858 property_value: exactMatch http://identifiers.org/mesh/C564710 property_value: exactMatch http://identifiers.org/snomedct/721173005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226952 property_value: exactMatch https://omim.org/entry/606407 property_value: exactMatch Orphanet:163690 property_value: exactMatch Orphanet:238517 property_value: excluded_subClassOf MONDO:0015962 {source="Orphanet:238517"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3782 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0011670 name: Ehlers-Danlos syndrome due to tenascin-X deficiency subset: ordo_disease {source="Orphanet:230839"} synonym: "classical-like EDS" RELATED [GARD:0008507] synonym: "classical-like Ehlers-Danlos syndrome" RELATED [GARD:0008507] synonym: "clEDS" RELATED [GARD:0008507] synonym: "EDS due to TNX deficiency" RELATED [MESH:C536193] synonym: "EDS due to Tnx deficiency" RELATED [OMIM:606408] synonym: "EDS, classic-like type" EXACT [Orphanet:230839] synonym: "EDSCLL" RELATED ABBREVIATION [OMIM:606408] synonym: "Ehlers-Danlos syndrome due to tenascin-X deficiency" EXACT [MESH:C536193, OMIM:606408] synonym: "Ehlers-Danlos syndrome, classic-like" RELATED [OMIM:606408] synonym: "Ehlers-Danlos syndrome, classic-like type" EXACT [Orphanet:230839] synonym: "Ehlers-Danlos syndrome, classic-like, 1" EXACT [OMIM:606408, OMIM:genemap2] synonym: "Ehlers-Danlos-like syndrome due to tenascin-X deficiency" RELATED [MESH:C536193] synonym: "TNX deficiency" RELATED [MESH:C536193] synonym: "Tnx deficiency" RELATED [OMIM:606408] xref: DOID:0080731 {source="MONDO:equivalentTo"} xref: MESH:C536193 {source="MONDO:equivalentTo"} xref: OMIM:606408 {source="Orphanet:230839", source="MONDO:equivalentTo", source="Orphanet:230839/e"} xref: Orphanet:230839 {source="MONDO:equivalentTo", source="OMIM:606408"} xref: UMLS:C1848029 {source="Orphanet:230839", source="MONDO:equivalentTo", source="OMIM:606408", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0020066 {source="MESH:C536193", source="OMIM:606408", source="Orphanet:230839"} ! Ehlers-Danlos syndrome property_value: exactMatch DOID:0080731 property_value: exactMatch http://identifiers.org/mesh/C536193 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848029 property_value: exactMatch https://omim.org/entry/606408 property_value: exactMatch Orphanet:230839 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011671 name: Huntington disease-like 2 def: "Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes characterized by a triad of movement, psychiatric, and cognitive abnormalities." [Orphanet:98934] subset: ordo_disease {source="Orphanet:98934"} synonym: "HDL2" EXACT ABBREVIATION [DOID:0090104, MONDO:Lexical, OMIM:606438, Orphanet:98934] synonym: "Huntington disease-like 2" EXACT [MONDO:Lexical, OMIM:606438] synonym: "Huntington disease-like type 2" EXACT [DOID:0090104, MONDORULE:1, OMIM:606438, Orphanet:98934] synonym: "Huntington's disease-like 2" RELATED [DOID:0090104] xref: DOID:0090104 {source="MONDO:equivalentTo"} xref: MESH:C564708 {source="MONDO:equivalentTo"} xref: OMIM:606438 {source="MONDO:equivalentTo", source="Orphanet:98934", source="DOID:0090104", source="Orphanet:98934/e"} xref: Orphanet:98934 {source="OMIM:606438", source="MONDO:equivalentTo", source="DOID:0090104"} xref: SCTID:721228006 {source="MONDO:equivalentTo"} xref: UMLS:C1847987 {source="OMIM:606438", source="MONDO:equivalentTo", source="Orphanet:98934", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0016987 {source="Orphanet:98934"} ! neuroacanthocytosis property_value: exactMatch DOID:0090104 property_value: exactMatch http://identifiers.org/mesh/C564708 property_value: exactMatch http://identifiers.org/snomedct/721228006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847987 property_value: exactMatch https://omim.org/entry/606438 property_value: exactMatch Orphanet:98934 [Term] id: MONDO:0011674 name: Charcot-Marie-Tooth disease dominant intermediate B def: "Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts." [Orphanet:100044] subset: ordo_disease {source="Orphanet:100044"} synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type B" RELATED [Orphanet:100044] synonym: "Charcot-Marie-Tooth disease caused by mutation in DNM2" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease dominant intermediate type B" EXACT [DOID:0110197, MONDORULE:1] synonym: "Charcot-Marie-Tooth disease, axonal type 2M" EXACT [OMIM:606482, OMIM:genemap2] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2M" RELATED [OMIM:606482] synonym: "Charcot-Marie-Tooth disease, axonal, type 2M" RELATED [OMIM:606482] synonym: "Charcot-Marie-Tooth disease, dominant intermediate B" RELATED [MONDO:Lexical, OMIM:606482] synonym: "Charcot-Marie-Tooth disease, dominant Intermediate B, with neutropenia" RELATED [OMIM:606482] synonym: "Charcot-Marie-Tooth disease, dominant Intermediate type B" EXACT [MONDORULE:1, OMIM:606482] synonym: "Charcot-Marie-Tooth neuropathy dominant intermediate B" EXACT [DOID:0110197] synonym: "Charcot-Marie-Tooth neuropathy, axonal, type 2M" RELATED [OMIM:606482] synonym: "Charcot-Marie-Tooth neuropathy, dominant Intermediate B" RELATED [OMIM:606482] synonym: "Charcot-Marie-Tooth neuropathy, dominant Intermediate B, with neutropenia" RELATED [OMIM:606482] synonym: "CMTDI1" EXACT ABBREVIATION [DOID:0110197] synonym: "Cmtdi1" RELATED [OMIM:606482] synonym: "CMTDIB" EXACT ABBREVIATION [DOID:0110197, MONDO:Lexical, OMIM:606482, Orphanet:100044] synonym: "DI-CMTB" EXACT [DOID:0110197] synonym: "Di-CMTB" RELATED [OMIM:606482] synonym: "DNM2 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "DNM2-related intermediate Charcot-Marie-Tooth neuropathy" RELATED [GARD:0012438] xref: DOID:0110197 {source="MONDO:equivalentTo"} xref: OMIM:606482 {source="Orphanet:100044", source="MONDO:equivalentTo", source="Orphanet:100044/e", source="DOID:0110197"} xref: Orphanet:100044 {source="MONDO:equivalentTo", source="OMIM:606482", source="DOID:0110197"} xref: SCTID:765745007 {source="MONDO:equivalentTo"} xref: UMLS:CN197338 {source="MONDO:equivalentTo"} is_a: MONDO:0019548 {source="Orphanet:100044", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant intermediate Charcot-Marie-Tooth disease property_value: exactMatch DOID:0110197 property_value: exactMatch http://identifiers.org/snomedct/765745007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197338 property_value: exactMatch https://omim.org/entry/606482 property_value: exactMatch Orphanet:100044 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011675 name: Charcot-Marie-Tooth Disease, axonal, type 2GG def: "Autosomal dominant intermediate Charcot-Marie-Tooth disease type A is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards." [Orphanet:100043] subset: ordo_disease {source="Orphanet:100043"} synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type A" EXACT [DOID:0110202] synonym: "Charcot-Marie-Tooth disease dominant intermediate A" EXACT [OMIM:606483] synonym: "Charcot-Marie-Tooth disease dominant intermediate type A" EXACT [DOID:0110202, MONDORULE:1] synonym: "Charcot-Marie-Tooth disease, dominant intermediate A" RELATED [MONDO:Lexical, OMIM:606483] synonym: "Charcot-Marie-Tooth neuropathy dominant intermediate A" EXACT [DOID:0110202] synonym: "Charcot-Marie-Tooth neuropathy, dominant Intermediate a" RELATED [OMIM:606483] synonym: "CMT2GG" EXACT ABBREVIATION [OMIM:606483] synonym: "CMTDIA" EXACT ABBREVIATION [DOID:0110202, MONDO:Lexical, OMIM:606483, Orphanet:100043] synonym: "DI-CMTA" EXACT [DOID:0110202] synonym: "Di-Cmta" RELATED [OMIM:606483] xref: DOID:0110202 {source="MONDO:equivalentTo"} xref: MESH:C564702 {source="MONDO:equivalentTo"} xref: OMIM:606483 {source="Orphanet:100043", source="MONDO:equivalentTo", source="Orphanet:100043/e", source="DOID:0110202"} xref: Orphanet:100043 {source="MONDO:equivalentTo", source="OMIM:606483", source="DOID:0110202"} xref: SCTID:765744006 {source="MONDO:equivalentTo"} xref: UMLS:C1847896 {source="Orphanet:100043", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:606483"} is_a: MONDO:0019548 {source="Orphanet:100043", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant intermediate Charcot-Marie-Tooth disease property_value: exactMatch DOID:0110202 property_value: exactMatch http://identifiers.org/mesh/C564702 property_value: exactMatch http://identifiers.org/snomedct/765744006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847896 property_value: exactMatch https://omim.org/entry/606483 property_value: exactMatch Orphanet:100043 [Term] id: MONDO:0011676 name: PHACE syndrome def: "PHACE is an acronym used to describe a syndrome characterized by the association of posterior fossa brain malformations, large facial haemangiomas, anatomical anomalies of the cerebral arteries, aortic coarctation and other cardiac anomalies, and eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery." [Orphanet:42775] subset: ordo_malformation_syndrome {source="Orphanet:42775"} synonym: "aortic aneurysm, giant congenital" RELATED [OMIM:606519] synonym: "P-CIIS" RELATED [GARD:0008338] synonym: "pascual-Castroviejo syndrome type 2" EXACT [Orphanet:42775] synonym: "pascual-Castroviejo type II syndrome" RELATED [GARD:0008338] synonym: "PHACE association" RELATED [OMIM:606519] synonym: "Phaces association" RELATED [OMIM:606519] synonym: "Posterior fossa brain malformations, hemangiomas of the face, arterial anomalies, cardiac anomalies, and eye abnormalities" RELATED [GARD:0008338] xref: MedDRA:10068032 {source="Orphanet:42775", source="Orphanet:42775/e"} xref: OMIM:606519 {source="Orphanet:42775", source="MONDO:equivalentTo", source="Orphanet:42775/e"} xref: Orphanet:42775 {source="MONDO:equivalentTo", source="OMIM:606519"} xref: UMLS:C1847874 {source="Orphanet:42775", source="MONDO:equivalentTo", source="OMIM:606519"} is_a: EFO:0003777 {source="MONDO:0015506-obsoleted"} ! heart disease is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015160 {source="Orphanet:42775"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0020022 ! central nervous system malformation relationship: disease_has_feature MONDO:0015145 {source="Orphanet:42775"} ! neurovascular malformation relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation property_value: closeMatch http://identifiers.org/meddra/10068032 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847874 property_value: exactMatch https://omim.org/entry/606519 property_value: exactMatch Orphanet:42775 property_value: excluded_subClassOf MONDO:0015145 {source="Orphanet:42775"} property_value: excluded_subClassOf MONDO:0018718 {source="Orphanet:42775"} property_value: excluded_subClassOf MONDO:0018729 {source="MONDO:Redundant", source="Orphanet:42775"} property_value: excluded_subClassOf MONDO:0018792 {source="Orphanet:42775"} property_value: excluded_subClassOf MONDO:0020182 {source="Orphanet:42775"} [Term] id: MONDO:0011679 name: craniosynostosis syndrome, autosomal recessive def: "Autosomal recessive form of craniosynostosis." [MONDO:patterns/autosomal_recessive] synonym: "autosomal recessive craniosynostosis" EXACT [MONDO:design_pattern] synonym: "craniosynostosis syndrome, autosomal recessive" EXACT [OMIM:606529] synonym: "craniosynostosis, autosomal recessive" EXACT [MONDO:design_pattern, MONDO:patterns/autosomal_recessive] xref: MESH:C564700 {source="MONDO:equivalentTo"} xref: OMIM:606529 {source="MONDO:equivalentTo"} xref: UMLS:C1847865 {source="MONDO:equivalentTo", source="OMIM:606529", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0015469 {source="DC-OMIM:600775", source="MESH:C564700", source="MONDO:Redundant"} ! craniosynostosis property_value: exactMatch http://identifiers.org/mesh/C564700 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847865 property_value: exactMatch https://omim.org/entry/606529 [Term] id: MONDO:0011681 name: episodic ataxia type 4 def: "Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia." [Orphanet:79136] subset: ordo_disease {source="Orphanet:79136"} synonym: "ataxia, periodic vestibulocerebellar" RELATED [OMIM:606552] synonym: "EA4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606552] synonym: "episodic ataxia, type 4" RELATED [MONDO:Lexical, OMIM:606552] synonym: "PATX" EXACT ABBREVIATION [Orphanet:79136] synonym: "periodic vestibulocerebellar ataxia" EXACT [OMIM:606552, Orphanet:79136] xref: DOID:0050992 {source="MONDO:equivalentTo"} xref: MESH:C564698 {source="MONDO:equivalentTo"} xref: OMIM:606552 {source="DOID:0050992", source="Orphanet:79136/e", source="MONDO:equivalentTo", source="Orphanet:79136"} xref: Orphanet:79136 {source="MONDO:equivalentTo", source="OMIM:606552"} xref: SCTID:718754008 {source="MONDO:equivalentTo"} xref: UMLS:C1847843 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:606552", source="Orphanet:79136"} is_a: MONDO:0016227 {source="DOID:0050992", source="OMIM:606552", source="Orphanet:79136"} ! hereditary episodic ataxia property_value: exactMatch DOID:0050992 property_value: exactMatch http://identifiers.org/mesh/C564698 property_value: exactMatch http://identifiers.org/snomedct/718754008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847843 property_value: exactMatch https://omim.org/entry/606552 property_value: exactMatch Orphanet:79136 [Term] id: MONDO:0011682 name: episodic ataxia type 3 def: "Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia." [Orphanet:79135] subset: ordo_disease {source="Orphanet:79135"} synonym: "ataxia, episodic, with vertigo and tinnitus" RELATED [OMIM:606554] synonym: "EA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606554] synonym: "episodic ataxia, type 3" RELATED [MONDO:Lexical, OMIM:606554] synonym: "episodic ataxia-vertigo-tinnitus-myokymia syndrome" EXACT [Orphanet:79135] xref: DOID:0050991 {source="MONDO:equivalentTo"} xref: MESH:C564697 {source="MONDO:equivalentTo"} xref: OMIM:606554 {source="DOID:0050991", source="Orphanet:79135/e", source="MONDO:equivalentTo", source="Orphanet:79135"} xref: Orphanet:79135 {source="MONDO:equivalentTo", source="OMIM:606554"} xref: SCTID:718755009 {source="MONDO:equivalentTo"} xref: UMLS:C1847839 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:79135", source="OMIM:606554"} is_a: MONDO:0016227 {source="DOID:0050991", source="OMIM:606554", source="Orphanet:79135"} ! hereditary episodic ataxia property_value: exactMatch DOID:0050991 property_value: exactMatch http://identifiers.org/mesh/C564697 property_value: exactMatch http://identifiers.org/snomedct/718755009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847839 property_value: exactMatch https://omim.org/entry/606554 property_value: exactMatch Orphanet:79135 [Term] id: MONDO:0011683 name: oculocutaneous albinism type 4 def: "Oculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm." [Orphanet:79435] subset: ordo_disease {source="Orphanet:79435"} synonym: "albinism, oculocutaneous, type 4" RELATED [OMIM:606574] synonym: "albinism, oculocutaneous, type IV" RELATED [MONDO:Lexical, OMIM:606574] synonym: "OCA4" EXACT ABBREVIATION [DOID:0070098, MONDO:Lexical, OMIM:606574, Orphanet:79435] synonym: "oculocutaneous albinism caused by mutation in SLC45A2" EXACT [MONDO:design_pattern] synonym: "oculocutaneous albinism type IV" RELATED [DOID:0070098] synonym: "oculocutaneous albinism, type 4" RELATED [OMIM:606574] synonym: "SLC45A2 oculocutaneous albinism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070098 {source="MONDO:equivalentTo"} xref: MESH:C564696 {source="MONDO:equivalentTo"} xref: OMIM:606574 {source="DOID:0070098", source="Orphanet:79435", source="MONDO:equivalentTo", source="Orphanet:79435/e"} xref: Orphanet:79435 {source="MONDO:equivalentTo", source="OMIM:606574"} xref: SCTID:715632003 {source="MONDO:equivalentTo"} xref: UMLS:C1847836 {source="Orphanet:79435", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:606574"} is_a: MONDO:0018910 {source="DC-OMIM:606574", source="DOID:0070098", source="MESH:C564696", source="MONDO:Redundant", source="OMIM:606574", source="Orphanet:79435"} ! oculocutaneous albinism property_value: exactMatch DOID:0070098 property_value: exactMatch http://identifiers.org/mesh/C564696 property_value: exactMatch http://identifiers.org/snomedct/715632003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847836 property_value: exactMatch https://omim.org/entry/606574 property_value: exactMatch Orphanet:79435 [Term] id: MONDO:0011684 name: vitiligo-associated multiple autoimmune disease susceptibility 1 subset: predisposition synonym: "systemic lupus erythematosus, vitiligo-related" RELATED [OMIM:606579] synonym: "VAMAS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606579] synonym: "vitiligo" RELATED [OMIM:606579] synonym: "vitiligo-associated multiple autoimmune disease susceptibility 1" EXACT [MONDO:Lexical, OMIM:606579] synonym: "vitiligo-associated multiple autoimmune disease susceptibility type 1" EXACT [MONDORULE:1, OMIM:606579] xref: OMIM:606579 {source="MONDO:equivalentTo"} xref: Orphanet:247871 {source="MONDO:relatedTo", source="OMIM:606579"} xref: UMLS:C1847835 {source="OMIM:606579", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0020573 {source="OMIM:606579"} ! inherited disease susceptibility relationship: predisposes_towards EFO:0005809 {source="OMIM:606579"} ! type II hypersensitivity reaction disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847835 property_value: exactMatch https://omim.org/entry/606579 property_value: relatedMatch Orphanet:247871 [Term] id: MONDO:0011686 name: DNA ligase IV deficiency def: "LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID)." [Orphanet:99812] subset: ordo_disease {source="Orphanet:99812"} synonym: "DNA ligase IV deficiency" EXACT [Orphanet:99812] synonym: "LIG4 syndrome" EXACT [DOID:0060021, OMIM:606593] synonym: "ligase 4 syndrome" EXACT [Orphanet:99812] xref: DOID:0060021 {source="MONDO:equivalentTo"} xref: MESH:C564694 {source="MONDO:equivalentTo"} xref: NCIT:C122657 {source="MONDO:equivalentTo"} xref: OMIM:606593 {source="DOID:0060021", source="Orphanet:99812", source="MONDO:equivalentTo", source="Orphanet:99812/e"} xref: Orphanet:99812 {source="MONDO:equivalentTo", source="OMIM:606593"} xref: SCTID:724177005 {source="MONDO:equivalentTo"} xref: UMLS:C1847827 {source="Orphanet:99812", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:606593", source="NCIT:C122657"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C122657"} ! syndromic disease is_a: MONDO:0017855 {source="PMID:31953710"} ! T-B- severe combined immunodeficiency is_a: MONDO:0021147 {source="Orphanet:99812", source="Orphanet:99812/inferred"} ! disorder of development or morphogenesis property_value: exactMatch DOID:0060021 property_value: exactMatch http://identifiers.org/mesh/C564694 property_value: exactMatch http://identifiers.org/snomedct/724177005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847827 property_value: exactMatch https://omim.org/entry/606593 property_value: exactMatch NCIT:C122657 property_value: exactMatch Orphanet:99812 property_value: excluded_subClassOf MONDO:0018814 {source="Orphanet:99812"} [Term] id: MONDO:0011687 name: Charcot-Marie-Tooth disease axonal type 2F def: "Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop." [Orphanet:99940] subset: gard_rare subset: ordo_disease {source="Orphanet:99940"} synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2F" EXACT [DOID:0110163] synonym: "Charcot Marie Tooth disease type 2F" RELATED [GARD:0009194] synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB1" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease type 2F" RELATED [GARD:0009194] synonym: "Charcot-Marie-Tooth disease, axonal, type 2F" RELATED [GARD:0009194, MONDO:Lexical, OMIM:606595] synonym: "Charcot-Marie-Tooth disease, neuronal, type 2F" RELATED [GARD:0009194, OMIM:606595] synonym: "Charcot-Marie-Tooth neuronal type 2F" EXACT [DOID:0110163] synonym: "Charcot-Marie-Tooth neuropathy type 2F" EXACT [DOID:0110163] synonym: "Charcot-Marie-Tooth neuropathy, type 2F" RELATED [GARD:0009194, OMIM:606595] synonym: "CMT 2F" RELATED [GARD:0009194] synonym: "CMT2F" EXACT ABBREVIATION [DOID:0110163, MONDO:Lexical, OMIM:606595, Orphanet:99940] synonym: "HSPB1 Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110163 {source="MONDO:equivalentTo"} xref: MESH:C535413 {source="MONDO:equivalentTo"} xref: OMIM:606595 {source="Orphanet:99940", source="GARD:0009194", source="MONDO:equivalentTo", source="Orphanet:99940/e", source="DOID:0110163"} xref: Orphanet:99940 {source="GARD:0009194", source="MONDO:equivalentTo", source="DOID:0110163", source="OMIM:606595"} xref: SCTID:719510006 {source="MONDO:equivalentTo"} xref: UMLS:C1847823 {source="Orphanet:99940", source="GARD:0009194", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:606595"} xref: UMLS:C4304675 {source="MONDO:equivalentTo"} is_a: MONDO:0018993 {source="DOID:0110163", source="MONDO:Redundant", source="Orphanet:99940"} ! Charcot-Marie-Tooth disease type 2 property_value: exactMatch DOID:0110163 property_value: exactMatch http://identifiers.org/mesh/C535413 property_value: exactMatch http://identifiers.org/snomedct/719510006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847823 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304675 property_value: exactMatch https://omim.org/entry/606595 property_value: exactMatch Orphanet:99940 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9194/charcot-marie-tooth-disease-type-2f xsd:anyURI {source="GARD:0009194"} [Term] id: MONDO:0011688 name: muscular dystrophy-dystroglycanopathy type B5 def: "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3." [DOID:0110635, PMID:11592034, PMID:14652796] synonym: "congenital muscular dystrophy 1C" EXACT [DOID:0110635] synonym: "congenital muscular dystrophy-FKRP related" EXACT [https://clinicalgenome.org/affiliation/50061/] synonym: "FKRP-related congenital muscular dystrophy" EXACT [DOID:0110635] synonym: "MDC1C" EXACT ABBREVIATION [DOID:0110635] synonym: "MDDGB5" EXACT ABBREVIATION [DOID:0110635, MONDO:Lexical, OMIM:606612] synonym: "muscular dystrophy, congenital, 1C" RELATED [OMIM:606612] synonym: "muscular dystrophy, congenital, FKRP-related" RELATED [OMIM:606612] synonym: "muscular dystrophy-dystroglycanopathy (congenital with or without intellectual disability), type B, 5" EXACT [DOID:0110635, MONDO:Lexical, OMIM:606612] synonym: "muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5" EXACT DEPRECATED [DOID:0110635, MONDO:Lexical, OMIM:606612] xref: DOID:0110635 {source="MONDO:equivalentTo"} xref: MESH:C564691 {source="MONDO:equivalentTo"} xref: OMIM:606612 {source="DOID:0110635", source="MONDO:equivalentTo"} xref: Orphanet:370959 {source="MONDO:relatedTo", source="OMIM:606612"} xref: Orphanet:370968 {source="MONDO:relatedTo", source="OMIM:606612"} xref: Orphanet:370980 {source="MONDO:relatedTo", source="OMIM:606612"} xref: Orphanet:52428 {source="DOID:0110635", source="OMIM:606612", source="MONDO:equivalentObsolete"} xref: UMLS:C1847759 {source="OMIM:606612", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000172 {source="DC-OMIM:606612", source="OMIM:606612"} ! muscular dystrophy-dystroglycanopathy, type B is_a: MONDO:0700066 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in FKRP property_value: exactMatch DOID:0110635 property_value: exactMatch http://identifiers.org/mesh/C564691 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847759 property_value: exactMatch https://omim.org/entry/606612 [Term] id: MONDO:0011694 name: spinocerebellar ataxia type 15/16 def: "Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia, tremor and cognitive impairment." [Orphanet:98769] comment: In orphanet, SCA16 is obsoleted in favor of 15/16 subset: ordo_disease {source="Orphanet:98769"} synonym: "SCA15" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606658] synonym: "SCA15/16" EXACT [Orphanet:98769] synonym: "SCA16 (formerly)" RELATED [GARD:0010477] synonym: "SCAR16" EXACT ABBREVIATION [NCIT:C150250] synonym: "spinocerebellar ataxia 15" RELATED [MONDO:Lexical, OMIM:606658] synonym: "spinocerebellar ataxia 16" RELATED [OMIM:606658] synonym: "spinocerebellar ataxia 16 (formerly)" RELATED [GARD:0010477] synonym: "spinocerebellar ataxia 16, formerly" RELATED [OMIM:606658] synonym: "spinocerebellar ataxia type 15" EXACT [MONDORULE:2, OMIM:606658] synonym: "spinocerebellar ataxia type 15/16" EXACT [MONDO:0020299] synonym: "spinocerebellar ataxia type 16" EXACT [MONDO:0000561] xref: DOID:0050965 {source="MONDO:equivalentTo"} xref: DOID:0050966 {source="MONDO:equivalentObsolete"} xref: MESH:C564685 {source="MONDO:equivalentTo"} xref: NCIT:C150250 {source="MONDO:equivalentTo"} xref: OMIM:606658 {source="MONDO:equivalentTo", source="DOID:0050965", source="Orphanet:98769/e"} xref: Orphanet:98769 {source="MONDO:equivalentTo"} xref: Orphanet:98770 {source="MONDO:cjm", source="MONDO:equivalentObsolete"} xref: SCTID:716724006 {source="MONDO:equivalentTo"} xref: UMLS:C1847725 {source="OMIM:606658", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4274322 {source="MONDO:equivalentTo"} xref: UMLS:CN229296 {source="MONDO:equivalentTo"} is_a: MONDO:0019792 {source="Orphanet:98769"} ! autosomal dominant cerebellar ataxia type I property_value: exactMatch DOID:0050965 property_value: exactMatch http://identifiers.org/mesh/C564685 property_value: exactMatch http://identifiers.org/snomedct/716724006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847725 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274322 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229296 property_value: exactMatch https://omim.org/entry/606658 property_value: exactMatch NCIT:C150250 property_value: exactMatch Orphanet:98769 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5166 xsd:anyURI [Term] id: MONDO:0011698 name: glycine N-methyltransferase deficiency def: "Glycine N-methyltransferase deficiency (GNMT deficiency) is a very rare condition characterized by persistent and isolated excess levels of methionine in the blood (hypermethioninemia). The only clinical abnormalities are mild increase of the liver size (hepatomegaly) and chronic elevation of the transaminase levels in the blood without liver disease. Methionine may also be increased in urine. However, because elevated levels of methionine in the blood itself is a risk factor for development of neurological signs and symptoms, people with GNMT deficiency can have neurological problems when methionine levelsare greater than 800μmol/L. GNMT deficiency is caused by mutations in the GNMT gene. Inheritance is autosomal recessive. Treatment is not needed in most cases." [https://rarediseases.info.nih.gov/diseases/10764/glycine-n-methyltransferase-deficiency] subset: gard_rare {source="GARD:0010764"} subset: ordo_disease {source="Orphanet:289891"} synonym: "Glycine N-methyltransferase deficiency" EXACT [Orphanet:289891] synonym: "glycine N-methyltransferase deficiency" EXACT [OMIM:606664] synonym: "GNMT deficiency" EXACT [DOID:0111037, OMIM:606664] synonym: "hypermethioninemia due to glycine N-methyltransferase deficiency" EXACT [DOID:0111037] synonym: "hypermethioninemia due to GNMT deficiency" EXACT [DOID:0111037, Orphanet:289891] xref: DOID:0111037 {source="MONDO:equivalentTo"} xref: OMIM:606664 {source="Orphanet:289891/e", source="MONDO:equivalentTo", source="Orphanet:289891", source="DOID:0111037"} xref: Orphanet:289891 {source="MONDO:equivalentTo", source="OMIM:606664", source="DOID:0111037"} xref: SCTID:763720007 {source="MONDO:equivalentTo"} xref: UMLS:C1847720 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:606664", source="Orphanet:289891"} is_a: MONDO:0000351 {source="DOID:0111037"} ! disorder of methionine catabolism property_value: exactMatch DOID:0111037 property_value: exactMatch http://identifiers.org/snomedct/763720007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847720 property_value: exactMatch https://omim.org/entry/606664 property_value: exactMatch Orphanet:289891 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10764/glycine-n-methyltransferase-deficiency xsd:anyURI {source="GARD:0010764"} [Term] id: MONDO:0011705 name: lymphangioleiomyomatosis def: "A multifocal neoplasm with perivascular epithelioid cell differentiation affecting almost exclusively females of child-bearing age. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lungs, mediastinum, and the retroperitoneum. It usually presents with chylous pleural effusion or ascites." [NCIT:C3725] subset: gard_rare {source="GARD:0003319"} subset: ordo_disease {source="Orphanet:538"} synonym: "LAM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606690, Orphanet:538] synonym: "lung lymphangioleiomyomatosis" NARROW [DOID:3319] synonym: "lymphangio-myomatosis" RELATED [GARD:0003319] synonym: "lymphangioleiomyomatosis" EXACT [MONDO:Lexical, NCIT:C3725, OMIM:606690] synonym: "lymphangioleiomyomatosis, somatic" EXACT [OMIM:606690, OMIM:genemap2] synonym: "lymphangiomyomatosis" EXACT [DOID:3319, NCIT:C3725, OMIM:606690] synonym: "pulmonary lymphangioleiomyomatosis" NARROW [DOID:3319] xref: ICD10CM:J84.81 {source="MONDO:equivalentTo"} xref: ICDO:9174/1 {source="NCIT:C3725"} xref: MESH:D018192 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: NCIT:C3725 {source="MONDO:equivalentTo"} xref: OMIM:606690 {source="MONDO:equivalentTo"} is_a: EFO:1000464 {source="NCIT:C3725"} ! PEComa property_value: exactMatch http://identifiers.org/mesh/D018192 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/J84.81 property_value: exactMatch https://omim.org/entry/606690 property_value: exactMatch NCIT:C3725 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4016 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5537 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3319/lymphangioleiomyomatosis xsd:anyURI {source="GARD:0003319"} [Term] id: MONDO:0011706 name: Kufor-Rakeb syndrome def: "Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment." [Orphanet:306674] subset: clingen subset: ordo_disease {source="Orphanet:306674"} synonym: "autosomal recessive juvenile onset Parkinson disease 9" EXACT [DOID:0060556] synonym: "autosomal recessive Parkinson disease 9" EXACT [DOID:0060556] synonym: "ceroid lipofuscinosis, neuronal, 12" RELATED [OMIM:606693] synonym: "KRPPD" RELATED ABBREVIATION [GARD:0009174] synonym: "KRS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606693] synonym: "Kufor-Rakeb syndrome" EXACT [MONDO:Lexical, OMIM:606693] synonym: "Pallidopyramidal Degeneration with supranuclear upgaze paresis and dementia" RELATED [OMIM:606693] synonym: "Pallidopyramidal degeneration with supranuclear upgaze paresis, and dementia" RELATED [GARD:0009174] synonym: "park 9" RELATED [GARD:0009174] synonym: "PARK9" EXACT ABBREVIATION [Orphanet:306674] synonym: "Parkinson disease 9, autosomal recessive" RELATED [OMIM:606693] synonym: "Parkinson disease 9, autosomal recessive, juvenile-onset" RELATED [OMIM:606693] synonym: "Parkinson disease type 9" RELATED [GARD:0009174] xref: DOID:0060556 {source="MONDO:equivalentTo"} xref: MESH:C537177 {source="DOID:0060556", source="MONDO:equivalentTo"} xref: OMIM:606693 {source="Orphanet:306674/e", source="DOID:0060556", source="MONDO:equivalentTo", source="Orphanet:306674"} xref: Orphanet:306674 {source="DOID:0060556", source="MONDO:equivalentTo", source="OMIM:606693"} is_a: MONDO:0000828 {source="DOID:0060556"} ! juvenile-onset Parkinson disease is_a: MONDO:0018307 {source="Orphanet:306674"} ! neurodegeneration with brain iron accumulation property_value: exactMatch DOID:0060556 property_value: exactMatch http://identifiers.org/mesh/C537177 property_value: exactMatch https://omim.org/entry/606693 property_value: exactMatch Orphanet:306674 [Term] id: MONDO:0011707 name: obsolete familial dyskinesia and facial myokymia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4507 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI is_obsolete: true replaced_by: MONDO:0800028 [Term] id: MONDO:0011717 name: hyperinsulinism-hyperammonemia syndrome def: "Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur." [Orphanet:35878] subset: gard_rare {source="GARD:0009931"} subset: ordo_disease {source="Orphanet:35878"} synonym: "GDH hyperinsulinism" EXACT [NCIT:C131832] synonym: "GLUD1 hyperinsulinism" EXACT [NCIT:C131832] synonym: "glutamate dehydrogenase 1 hyperinsulinism" EXACT [NCIT:C131832] synonym: "HA/hi syndrome" RELATED [GARD:0009931] synonym: "HHF6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606762] synonym: "hi/HA syndrome" EXACT [Orphanet:35878] synonym: "hyperinsulinemic hypoglycemia familial 6" RELATED [GARD:0009931] synonym: "hyperinsulinemic hypoglycemia, familial, 6" RELATED [MONDO:Lexical, OMIM:606762] synonym: "hyperinsulinemic hypoglycemia, familial, type 6" EXACT [MONDORULE:1, OMIM:606762] synonym: "hyperinsulinism hyperammonemia syndrome" RELATED [GARD:0009931] synonym: "hyperinsulinism-hyperammonemia syndrome" EXACT [OMIM:606762] synonym: "hyperinsulinism/hyperammonemia syndrome" EXACT [NCIT:C131832] xref: DOID:0070217 {source="MONDO:equivalentTo"} xref: MESH:C538375 {source="MONDO:equivalentTo"} xref: NCIT:C131832 {source="MONDO:equivalentTo"} xref: OMIM:606762 {source="Orphanet:35878", source="MONDO:equivalentTo", source="Orphanet:35878/e"} xref: Orphanet:35878 {source="MONDO:equivalentTo", source="OMIM:606762"} xref: UMLS:C1847555 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:606762"} is_a: MONDO:0015624 {source="Orphanet:35878"} ! diazoxide-sensitive diffuse hyperinsulinism is_a: MONDO:0800153 {source="PMID:33340416"} ! urea cycle disorder or inherited hyperammonemia property_value: exactMatch DOID:0070217 property_value: exactMatch http://identifiers.org/mesh/C538375 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847555 property_value: exactMatch https://omim.org/entry/606762 property_value: exactMatch NCIT:C131832 property_value: exactMatch Orphanet:35878 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9931/hyperinsulinism-hyperammonemia-syndrome xsd:anyURI {source="GARD:0009931"} [Term] id: MONDO:0011719 name: gastrointestinal stromal tumor def: "Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1." [Orphanet:44890] subset: ordo_disease {source="Orphanet:44890"} synonym: "gant" EXACT [DOID:9253, NCIT:C27940] synonym: "gastrointestinal stromal neoplasm" EXACT [NCIT:C3868] synonym: "gastrointestinal stromal sarcoma" EXACT [Orphanet:44890] synonym: "gastrointestinal stromal tumor" EXACT [MONDO:Lexical, OMIM:606764] synonym: "gastrointestinal stromal tumor (gist)" EXACT [NCIT:C3868] synonym: "gastrointestinal stromal tumor, familial, isolated cases" EXACT [OMIM:606764, OMIM:genemap2] synonym: "gastrointestinal stromal tumor, isolated cases" EXACT [OMIM:606764, OMIM:genemap2] synonym: "gastrointestinal stromal tumors" RELATED [GARD:0008598] synonym: "gastrointestinal stromal tumour (gist)" EXACT OMO:0003005 [] synonym: "gastrointestinal stromal tumours" RELATED OMO:0003005 [] synonym: "gist" EXACT [DOID:9253, MONDO:Lexical, OMIM:606764, Orphanet:44890] synonym: "stromal tumor of gastrointestinal tract" EXACT [DOID:9253, NCIT:C3868] synonym: "stromal tumour of gastrointestinal tract" EXACT OMO:0003005 [] xref: DOID:9253 {source="MONDO:equivalentTo"} xref: ICDO:8936/1 {source="NCIT:C3868"} xref: MedDRA:10051066 {source="Orphanet:44890/e", source="Orphanet:44890"} xref: MESH:D046152 {source="Orphanet:44890/e", source="MONDO:equivalentTo", source="Orphanet:44890", source="DOID:9253"} xref: NCIT:C3868 {source="MONDO:equivalentTo", source="DOID:9253"} xref: OMIM:606764 {source="Orphanet:44890/e", source="MONDO:equivalentTo", source="Orphanet:44890", source="DOID:9253"} xref: ONCOTREE:GIST {source="MONDO:equivalentTo"} xref: Orphanet:44890 {source="OMIM:606764", source="MONDO:equivalentTo"} xref: SCTID:420120006 {source="MONDO:equivalentTo", source="DOID:9253"} xref: UMLS:C0238198 {source="Orphanet:44890/e", source="OMIM:606764", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:44890", source="DOID:9253", source="NCIT:C3868"} xref: UMLS:C3179349 {source="MONDO:equivalentTo", source="Orphanet:44890"} is_a: MONDO:0017128 {source="Orphanet:44890"} ! inherited digestive tract tumor is_a: MONDO:0018506 {source="Orphanet:44890"} ! mesenchymal tumor of small intestine property_value: closeMatch http://identifiers.org/meddra/10051066 property_value: exactMatch DOID:9253 property_value: exactMatch http://identifiers.org/mesh/D046152 property_value: exactMatch http://identifiers.org/snomedct/420120006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238198 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3179349 property_value: exactMatch https://omim.org/entry/606764 property_value: exactMatch NCIT:C3868 property_value: exactMatch Orphanet:44890 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011721 name: distal myopathy with anterior tibial onset subset: ordo_disease {source="Orphanet:178400"} synonym: "distal anterior compartment myopathy" EXACT [Orphanet:178400] synonym: "DMAT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606768] synonym: "myopathy, distal, with anterior tibial onset" RELATED [MONDO:Lexical, OMIM:606768] xref: DOID:0111187 {source="MONDO:equivalentTo"} xref: MESH:C564664 {source="MONDO:equivalentTo"} xref: OMIM:606768 {source="Orphanet:178400", source="MONDO:equivalentTo", source="Orphanet:178400/e"} xref: Orphanet:178400 {source="OMIM:606768", source="MONDO:equivalentTo"} xref: UMLS:C1847532 {source="OMIM:606768", source="Orphanet:178400", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0016109 {source="Orphanet:178400"} ! autosomal recessive distal myopathy is_a: MONDO:0016145 {source="Orphanet:178400"} ! qualitative or quantitative defects of dysferlin property_value: exactMatch DOID:0111187 property_value: exactMatch http://identifiers.org/mesh/C564664 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847532 property_value: exactMatch https://omim.org/entry/606768 property_value: exactMatch Orphanet:178400 [Term] id: MONDO:0011722 name: intellectual disability-obesity-prognathism-eye and skin anomalies syndrome subset: ordo_disease {source="Orphanet:397973"} synonym: "intellectual disability, obesity, mandibular prognathism, and eye and skin anomalies" RELATED [OMIM:606772] synonym: "mental retardation, obesity, mandibular prognathism, and eye and skin anomalies" RELATED DEPRECATED [OMIM:606772] synonym: "MOMES syndrome" EXACT [Orphanet:397973] synonym: "Momes syndrome" RELATED [OMIM:606772] xref: MESH:C564660 {source="MONDO:equivalentTo"} xref: OMIM:606772 {source="MONDO:equivalentTo", source="Orphanet:397973", source="Orphanet:397973/e"} xref: Orphanet:397973 {source="MONDO:equivalentTo", source="OMIM:606772"} xref: UMLS:C1847522 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:397973", source="OMIM:606772"} is_a: MONDO:0015159 {source="Orphanet:397973"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0016565 {source="Orphanet:397973"} ! syndromic genetic obesity property_value: exactMatch http://identifiers.org/mesh/C564660 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847522 property_value: exactMatch https://omim.org/entry/606772 property_value: exactMatch Orphanet:397973 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:397973"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0011724 name: encephalopathy due to GLUT1 deficiency def: "Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation." [Orphanet:71277] subset: gard_rare subset: ordo_disease {source="Orphanet:71277"} synonym: "De Vivo disease" EXACT [GARD:0009265, MESH:C536830, Orphanet:71277] synonym: "encephalopathy due to GLUT1 deficiency" EXACT [GARD:0009265, MESH:C536830] synonym: "G1D" RELATED ABBREVIATION [GARD:0009265] synonym: "glucose Transport defect, blood-brain barrier" RELATED [OMIM:606777] synonym: "glucose transport defect, blood-brain barrier" RELATED [GARD:0009265, MESH:C536830] synonym: "glucose TRANSPORT defect, blood-brain barrier GLUT1 deficiency syndrome 1, autosomal recessive, included" RELATED [MESH:C536830] synonym: "glucose transporter Protein syndrome" RELATED [MESH:C536830] synonym: "glucose transporter protein syndrome" RELATED [GARD:0009265] synonym: "glucose transporter type 1 deficiency" EXACT [Orphanet:71277] synonym: "glucose transporter type 1 deficiency syndrome" RELATED [MESH:C536830] synonym: "glucose transporter type1 (glut-1) deficiency" RELATED [MESH:C536830] synonym: "glut-1 deficiency syndrome" EXACT [GARD:0009265, MESH:C536830, Orphanet:71277] synonym: "GLUT1 deficiency syndrome" RELATED [GARD:0009265] synonym: "GLUT1 deficiency syndrome 1" RELATED [MESH:C536830, MONDO:Lexical, OMIM:606777] synonym: "GLUT1 deficiency syndrome 1, autosomal recessive" RELATED [OMIM:606777] synonym: "GLUT1 deficiency syndrome 1, infantile onset, severe" EXACT [OMIM:606777, OMIM:genemap2] synonym: "GLUT1 deficiency syndrome type 1" EXACT [MONDORULE:1, OMIM:606777] synonym: "GLUT1 DS" RELATED [GARD:0009265] synonym: "GLUT1-DS" EXACT [Orphanet:71277] synonym: "GLUT1DS1" RELATED ABBREVIATION [MESH:C536830, MONDO:Lexical, OMIM:606777] xref: EFO:0009139 {source="MONDO:equivalentTo"} xref: MESH:C536830 {source="MONDO:equivalentTo"} xref: OMIM:606777 {source="Orphanet:71277", source="MONDO:equivalentTo", source="GARD:0009265", source="Orphanet:71277/e"} xref: Orphanet:71277 {source="OMIM:606777", source="MONDO:equivalentTo", source="GARD:0009265"} xref: UMLS:C1847501 {source="OMIM:606777", source="Orphanet:71277", source="MONDO:equivalentTo", source="GARD:0009265"} xref: UMLS:CN030711 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000188 {source="DC-OMIM:606777", source="OMIM:606777"} ! GLUT1 deficiency syndrome property_value: exactMatch http://identifiers.org/mesh/C536830 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847501 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN030711 property_value: exactMatch https://omim.org/entry/606777 property_value: exactMatch Orphanet:71277 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9265/glucose-transporter-type-1-deficiency-syndrome xsd:anyURI {source="GARD:0009265"} [Term] id: MONDO:0011725 name: Crigler-Najjar syndrome type 2 def: "Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1." [Orphanet:79235] subset: gard_rare {source="GARD:0008683"} subset: ordo_clinical_subtype {source="Orphanet:79235"} synonym: "Arias syndrome" EXACT [Orphanet:79235] synonym: "bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2" EXACT [Orphanet:79235] synonym: "bilirubin-UGT deficiency type 2" EXACT [Orphanet:79235] synonym: "Crigler Najjar syndrome, type 2" RELATED [GARD:0008683] synonym: "Crigler-Najjar syndrome, type 2" RELATED [OMIM:606785] synonym: "Crigler-Najjar syndrome, type II" RELATED [OMIM:606785] synonym: "hereditary unconjugated hyperbilirubinemia type 2" EXACT [Orphanet:79235] synonym: "hyperbilirubinemia, Crigler-Najjar type 2" RELATED [OMIM:606785] synonym: "UGT deficiency type 2" EXACT [Orphanet:79235] xref: MedDRA:10011387 {source="Orphanet:79235/e", source="Orphanet:79235"} xref: MESH:C536213 {source="Orphanet:79235/e", source="MONDO:equivalentTo", source="Orphanet:79235"} xref: OMIM:606785 {source="Orphanet:79235/e", source="MONDO:equivalentTo", source="Orphanet:79235"} xref: Orphanet:79235 {source="MONDO:equivalentTo", source="OMIM:606785"} xref: SCTID:68067009 {source="MONDO:equivalentTo"} xref: UMLS:C2931132 {source="Orphanet:79235/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:606785", source="Orphanet:79235"} is_a: MONDO:0009044 {source="MESH:C536213", source="Orphanet:79235"} ! Crigler-Najjar syndrome property_value: closeMatch http://identifiers.org/meddra/10011387 property_value: exactMatch http://identifiers.org/mesh/C536213 property_value: exactMatch http://identifiers.org/snomedct/68067009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931132 property_value: exactMatch https://omim.org/entry/606785 property_value: exactMatch Orphanet:79235 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8683/crigler-najjar-syndrome-type-2 xsd:anyURI {source="GARD:0008683"} [Term] id: MONDO:0011728 name: blepharospasm def: "Involuntary twitching of the eyelid." [NCIT:P378] synonym: "BEB" RELATED ABBREVIATION [GARD:0005909] synonym: "benign essential blepharospasm" RELATED [GARD:0005909] synonym: "blepharospasm, benign essential" RELATED [OMIM:606798] synonym: "blepharospasm, benign essential, susceptibility to" RELATED [OMIM:606798] synonym: "blepharospasm, primary benign" EXACT [OMIM:606798, OMIM:genemap2] xref: DOID:529 {source="MONDO:equivalentTo"} xref: ICD10CM:G24.5 {source="DOID:529", source="MONDO:equivalentTo"} xref: ICD9:333.81 {source="DOID:529", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D001764 {source="DOID:529", source="MONDO:equivalentTo"} xref: OMIM:606798 {source="DOID:529", source="MONDO:equivalentTo"} xref: SCTID:59026006 {source="DOID:529", source="MONDO:equivalentTo"} xref: UMLS:C0005747 {source="DOID:529", source="MONDO:equivalentTo"} is_a: MONDO:0000477 {source="DOID:529", source="Wikipedia:Dystonia"} ! focal dystonia property_value: exactMatch DOID:529 property_value: exactMatch http://identifiers.org/mesh/D001764 property_value: exactMatch http://identifiers.org/snomedct/59026006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005747 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G24.5 property_value: exactMatch https://omim.org/entry/606798 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011730 name: fumaric aciduria def: "Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment." [Orphanet:24] subset: ordo_disease {source="Orphanet:24"} synonym: "FMRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606812] synonym: "fumarase deficiency" EXACT [MONDO:Lexical, OMIM:606812, Orphanet:24] synonym: "fumarate hydratase deficiency" RELATED [GARD:0006476] synonym: "fumaric aciduria" EXACT [OMIM:606812] xref: DOID:0111261 {source="MONDO:equivalentTo"} xref: ICD9:282.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538191 {source="Orphanet:24", source="MONDO:equivalentTo", source="Orphanet:24/e"} xref: OMIM:606812 {source="Orphanet:24", source="MONDO:equivalentTo", source="Orphanet:24/e"} xref: Orphanet:24 {source="OMIM:606812", source="MONDO:equivalentTo"} xref: SCTID:237983002 {source="MONDO:equivalentTo"} xref: UMLS:C2936826 {source="OMIM:606812", source="Orphanet:24", source="MONDO:equivalentTo", source="Orphanet:24/e"} is_a: MONDO:0004069 ! inborn mitochondrial metabolism disorder is_a: MONDO:0016790 {source="Orphanet:24"} ! tricarboxylic acid cycle disorder is_a: MONDO:0020127 ! hereditary peripheral neuropathy property_value: exactMatch DOID:0111261 property_value: exactMatch http://identifiers.org/mesh/C538191 property_value: exactMatch http://identifiers.org/snomedct/237983002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2936826 property_value: exactMatch https://omim.org/entry/606812 property_value: exactMatch Orphanet:24 [Term] id: MONDO:0011731 name: glucose-galactose malabsorption def: "Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period." [Orphanet:35710] subset: gard_rare {source="GARD:0006521"} subset: ordo_disease {source="Orphanet:35710"} synonym: "carbohydrate intolerance of glucose galactose" RELATED [GARD:0006521] synonym: "Complex carbohydrate intolerance" RELATED [GARD:0006521] synonym: "GGM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606824] synonym: "glucose galactose malabsorption deficiency" RELATED [GARD:0006521] synonym: "glucose-galactose malabsorption" EXACT [] synonym: "glucose/galactose malabsorption" RELATED [MONDO:Lexical, OMIM:606824] synonym: "monosaccharide malabsorption" RELATED [OMIM:606824] synonym: "SGLT1 deficiency" EXACT [Orphanet:35710] xref: ICD9:271.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10066388 {source="Orphanet:35710", source="Orphanet:35710/e"} xref: MESH:C562602 {source="MONDO:equivalentTo"} xref: OMIM:606824 {source="Orphanet:35710", source="MONDO:equivalentTo", source="Orphanet:35710/e"} xref: Orphanet:35710 {source="OMIM:606824", source="MONDO:equivalentTo"} xref: SCTID:190749000 {source="MONDO:equivalentTo"} is_a: MONDO:0015178 {source="Orphanet:35710"} ! congenital intestinal transport defect is_a: MONDO:0019226 {source="Orphanet:35710"} ! glucose transport disorder property_value: closeMatch http://identifiers.org/meddra/10066388 property_value: exactMatch http://identifiers.org/mesh/C562602 property_value: exactMatch http://identifiers.org/snomedct/190749000 property_value: exactMatch https://omim.org/entry/606824 property_value: exactMatch Orphanet:35710 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6521/glucose-galactose-malabsorption xsd:anyURI {source="GARD:0006521"} [Term] id: MONDO:0011732 name: familial digital arthropathy-brachydactyly def: "Familial digital arthropathy-brachydactyly is characterized by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant." [Orphanet:85169] subset: ordo_malformation_syndrome {source="Orphanet:85169"} synonym: "digital arthropathy-brachydactyly, familial" RELATED [MONDO:Lexical, OMIM:606835] synonym: "FDAB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606835] xref: MESH:C564656 {source="MONDO:equivalentTo"} xref: NCIT:C175208 {source="MONDO:equivalentTo"} xref: OMIM:606835 {source="Orphanet:85169", source="MONDO:equivalentTo", source="Orphanet:85169/e"} xref: Orphanet:85169 {source="OMIM:606835", source="MONDO:equivalentTo"} xref: UMLS:C1847406 {source="Orphanet:85169", source="OMIM:606835", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018240 {source="Orphanet:85169", source="PMID:31633310"} ! TRPV4-related bone disorder is_a: MONDO:0018454 ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation property_value: exactMatch http://identifiers.org/mesh/C564656 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847406 property_value: exactMatch https://omim.org/entry/606835 property_value: exactMatch NCIT:C175208 property_value: exactMatch Orphanet:85169 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0011735 name: hyper-IgM syndrome type 3 def: "A form of Hyper IgM syndrome characterized by mutations of the CD40 gene. In this type, Immature B cells cannot receive signal 2 from helper T cells which is necessary to mature into mature B cells." [Wikipedia:Hyper-IgM_syndrome_type_3] subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:101090"} synonym: "CD40 deficiency" RELATED [DOID:0060023] synonym: "CD40 hyper-IgM syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "HIGM3" EXACT ABBREVIATION [GARD:0010579, MONDO:Lexical, OMIM:606843, Orphanet:101090] synonym: "hyper IgM syndrome 3" RELATED [GARD:0010579] synonym: "hyper-IgM syndrome 3" RELATED [OMIM:606843] synonym: "hyper-IgM syndrome caused by mutation in CD40" EXACT [MONDO:design_pattern] synonym: "hyper-IgM syndrome due to CD40 deficiency" EXACT [DOID:0060023, Orphanet:101090] synonym: "immunodeficiency with hyper IgM type 3" RELATED [GARD:0010579] synonym: "immunodeficiency with hyper-IgM type 3" EXACT [DOID:0060023] synonym: "immunodeficiency with hyper-IgM, type 3" RELATED [MONDO:Lexical, OMIM:606843] synonym: "type 3 hyper-IgM immunodeficiency" EXACT [DOID:0060023] xref: DOID:0060023 {source="MONDO:equivalentTo"} xref: OMIM:606843 {source="DOID:0060023", source="MONDO:equivalentTo", source="Orphanet:101090", source="GARD:0010579", source="Orphanet:101090/e"} xref: Orphanet:101090 {source="DOID:0060023", source="OMIM:606843", source="MONDO:equivalentTo", source="GARD:0010579"} is_a: MONDO:0015975 {source="Orphanet:101090"} ! hyper-IgM syndrome with susceptibility to opportunistic infections property_value: exactMatch DOID:0060023 property_value: exactMatch https://omim.org/entry/606843 property_value: exactMatch Orphanet:101090 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10579/immunodeficiency-with-hyper-igm-type-3 xsd:anyURI {source="GARD:0010579"} [Term] id: MONDO:0011738 name: bilateral frontoparietal polymicrogyria def: "Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus." [Orphanet:101070] subset: gard_rare {source="GARD:0010784"} subset: ordo_clinical_subtype {source="Orphanet:101070"} synonym: "BFPP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606854] synonym: "bilateral frontoparietal polymicrogyria" EXACT [] synonym: "cerebellar ataxia with neuronal migration defect" RELATED [OMIM:606854] synonym: "polymicrogyria, bilateral frontoparietal" RELATED [MONDO:Lexical, OMIM:606854] xref: DOID:0080922 {source="MONDO:equivalentTo"} xref: MESH:C564652 {source="MONDO:equivalentTo"} xref: NCIT:C148367 {source="MONDO:equivalentTo"} xref: OMIM:606854 {source="MONDO:equivalentTo", source="Orphanet:101070", source="Orphanet:101070/e"} xref: Orphanet:101070 {source="OMIM:606854", source="MONDO:equivalentTo"} xref: UMLS:C1847352 {source="OMIM:606854", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:101070"} is_a: MONDO:0017091 {source="Orphanet:101070"} ! bilateral polymicrogyria property_value: exactMatch DOID:0080922 property_value: exactMatch http://identifiers.org/mesh/C564652 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847352 property_value: exactMatch https://omim.org/entry/606854 property_value: exactMatch NCIT:C148367 property_value: exactMatch Orphanet:101070 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10784/bilateral-frontoparietal-polymicrogyria xsd:anyURI {source="GARD:0010784"} [Term] id: MONDO:0011740 name: Carney-Stratakis syndrome def: "Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites." [Orphanet:97286] subset: ordo_disease {source="Orphanet:97286"} synonym: "Carney dyad" EXACT [Orphanet:97286] synonym: "Carney-Stratakis dyad" EXACT [Orphanet:97286] synonym: "Carney-Stratakis dyad of paraganglioma and gastric stromal sarcoma" RELATED [GARD:0010643] synonym: "Carney-Stratakis syndrome" EXACT [OMIM:606864] synonym: "gist-paraganglioma dyad" EXACT [Orphanet:97286] synonym: "paraganglioma and gastric stromal sarcoma" EXACT [OMIM:606864, Orphanet:97286] synonym: "paraganglioma and gastrointestinal stromal tumor" RELATED [OMIM:606864] synonym: "paraganglioma and gastrointestinal stromal tumour" RELATED OMO:0003005 [] synonym: "paraganglioma and gist" RELATED [GARD:0010643] xref: DOID:0080533 {source="MONDO:equivalentTo"} xref: MESH:C564650 {source="MONDO:equivalentTo"} xref: NCIT:C94831 {source="MONDO:equivalentTo"} xref: OMIM:606864 {source="Orphanet:97286/e", source="MONDO:equivalentTo", source="Orphanet:97286"} xref: Orphanet:97286 {source="OMIM:606864", source="MONDO:equivalentTo"} xref: SCTID:722377004 {source="MONDO:equivalentTo"} xref: UMLS:C1847319 {source="NCIT:C94831", source="OMIM:606864", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:97286"} is_a: MONDO:0015079 {source="Orphanet:97286"} ! multiple polyglandular tumor is_a: MONDO:0015356 {source="NCIT:C94831"} ! hereditary neoplastic syndrome property_value: exactMatch DOID:0080533 property_value: exactMatch http://identifiers.org/mesh/C564650 property_value: exactMatch http://identifiers.org/snomedct/722377004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847319 property_value: exactMatch https://omim.org/entry/606864 property_value: exactMatch NCIT:C94831 property_value: exactMatch Orphanet:97286 [Term] id: MONDO:0011744 name: primary intraosseous venous malformation def: "Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting." [Orphanet:140436] subset: ordo_disease {source="Orphanet:140436"} synonym: "hemangioma, intraosseous" RELATED [OMIM:606893] synonym: "intraosseous hemangioma" EXACT [Orphanet:140436] synonym: "osseous venous malformation" EXACT [Orphanet:140436] synonym: "vascular malformation osseous" RELATED [OMIM:606893] synonym: "vascular malformation, primary intraosseous" RELATED [OMIM:606893] xref: MESH:C564648 {source="MONDO:equivalentTo"} xref: OMIM:606893 {source="Orphanet:140436/e", source="MONDO:equivalentTo", source="Orphanet:140436"} xref: Orphanet:140436 {source="MONDO:equivalentTo", source="OMIM:606893"} xref: SCTID:764100007 {source="MONDO:equivalentTo"} xref: UMLS:C1847197 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:606893", source="Orphanet:140436"} is_a: MONDO:0000631 ! bone benign neoplasm is_a: MONDO:0016223 {source="Orphanet:140436"} ! infantile hemangioma of rare localization is_a: MONDO:0016524 {source="Orphanet:140436"} ! congenital vascular bone syndrome is_a: MONDO:0024499 ! vascular bone neoplasm property_value: exactMatch http://identifiers.org/mesh/C564648 property_value: exactMatch http://identifiers.org/snomedct/764100007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847197 property_value: exactMatch https://omim.org/entry/606893 property_value: exactMatch Orphanet:140436 [Term] id: MONDO:0011749 name: oculocutaneous albinism type 1B def: "Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves." [Orphanet:79434] subset: gard_rare {source="GARD:0000594"} subset: ordo_clinical_subtype {source="Orphanet:79434"} synonym: "albinism, oculocutaneous, type 1B" RELATED [OMIM:606952] synonym: "albinism, oculocutaneous, type I, temperature-sensitive" RELATED [OMIM:606952] synonym: "albinism, oculocutaneous, type IB" RELATED [MONDO:Lexical, OMIM:606952] synonym: "albinism, Yellow mutant type" EXACT [DOID:0070095, OMIM:606952] synonym: "Oca1-Ts" RELATED [OMIM:606952] synonym: "OCA1B" EXACT ABBREVIATION [DOID:0070095, MONDO:Lexical, OMIM:606952, Orphanet:79434] synonym: "oculocutaneous albinism type IB" RELATED [DOID:0070095] synonym: "oculocutaneous albinism, Amish type" EXACT [Orphanet:79434] synonym: "oculocutaneous albinism, type 1B" RELATED [OMIM:606952] synonym: "platinum oculocutaneous albinism" EXACT [Orphanet:79434] synonym: "Yellow albinism" RELATED [OMIM:606952] synonym: "Yellow mutant albinism" RELATED [GARD:0000594] synonym: "Yellow oculocutaneous albinism" EXACT [Orphanet:79434] xref: DOID:0070095 {source="MONDO:equivalentTo"} xref: MESH:C537729 {source="Orphanet:79434/e", source="MONDO:equivalentTo", source="Orphanet:79434"} xref: OMIM:606952 {source="Orphanet:79434/e", source="MONDO:equivalentTo", source="Orphanet:79434", source="DOID:0070095"} xref: Orphanet:352737 {source="OMIM:606952", source="MONDO:directSiblingOf"} xref: Orphanet:79434 {source="OMIM:606952", source="MONDO:equivalentTo"} xref: UMLS:C1847024 {source="OMIM:606952", source="Orphanet:79434/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:79434"} xref: UMLS:C1847132 {source="OMIM:606952", source="MONDO:directSiblingOf"} is_a: MONDO:0008745 ! oculocutaneous albinism type 1A property_value: exactMatch DOID:0070095 property_value: exactMatch http://identifiers.org/mesh/C537729 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847024 property_value: exactMatch https://omim.org/entry/606952 property_value: exactMatch Orphanet:79434 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/594/oculocutaneous-albinism-type-1b xsd:anyURI {source="GARD:0000594"} [Term] id: MONDO:0011754 name: familial hyperreninemic hypoaldosteronism type 2 subset: ordo_etiological_subtype {source="Orphanet:99764"} synonym: "aldosterone synthase deficiency unrelated to CYP11B2" EXACT [Orphanet:99764] synonym: "aldosterone synthase deficiency unrelated to the aldosterone synthase gene" EXACT [Orphanet:99764] synonym: "FHHA2" EXACT ABBREVIATION [Orphanet:99764] synonym: "Fhha2" RELATED [OMIM:606984] synonym: "hyperreninemic hypoaldosteronism, familial, 2" RELATED [OMIM:606984] synonym: "hyperreninemic hypoaldosteronism, familial, type 2" EXACT [MONDORULE:1, OMIM:606984] xref: MESH:C564638 {source="MONDO:equivalentTo"} xref: OMIM:606984 {source="Orphanet:99764", source="MONDO:equivalentTo", source="Orphanet:99764/e"} xref: Orphanet:99764 {source="OMIM:606984", source="MONDO:equivalentObsolete"} xref: UMLS:C1846990 {source="Orphanet:99764", source="OMIM:606984", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018541 {source="Orphanet:99764"} ! familial hypoaldosteronism property_value: exactMatch http://identifiers.org/mesh/C564638 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846990 property_value: exactMatch https://omim.org/entry/606984 [Term] id: MONDO:0011758 name: Hurler syndrome def: "Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." [Orphanet:93473] subset: ordo_clinical_subtype {source="Orphanet:93473"} synonym: "Hurler disease" EXACT [Orphanet:93473] synonym: "Hurler syndrome" EXACT [OMIM:607014] synonym: "MPS I H" EXACT [NCIT:C61261] synonym: "MPS1-H" RELATED [GARD:0012559] synonym: "MPS1H" EXACT ABBREVIATION [Orphanet:93473] synonym: "MPSIH" EXACT ABBREVIATION [Orphanet:93473] synonym: "mucopolysaccharidosis IH" RELATED [GARD:0012559] synonym: "mucopolysaccharidosis type 1H" EXACT [OMIM:607014, Orphanet:93473] synonym: "mucopolysaccharidosis type IH" EXACT [Orphanet:93473] xref: DOID:0111390 {source="MONDO:equivalentTo"} xref: NCIT:C61261 {source="MONDO:equivalentTo"} xref: OMIM:607014 {source="Orphanet:93473", source="MONDO:equivalentTo", source="Orphanet:93473/e"} xref: Orphanet:93473 {source="MONDO:equivalentTo", source="OMIM:607014"} is_a: MONDO:0001586 {source="NCIT:C61261", source="Orphanet:93473"} ! mucopolysaccharidosis type 1 is_a: MONDO:0002254 {source="NCIT:C61261"} ! syndromic disease is_a: MONDO:0016340 ! familial restrictive cardiomyopathy is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement disjoint_from: MONDO:0011759 ! Hurler-Scheie syndrome property_value: exactMatch DOID:0111390 property_value: exactMatch https://omim.org/entry/607014 property_value: exactMatch NCIT:C61261 property_value: exactMatch Orphanet:93473 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0011759 name: Hurler-Scheie syndrome def: "Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." [Orphanet:93476] subset: ordo_clinical_subtype {source="Orphanet:93476"} synonym: "Hurler-Scheie syndrome" EXACT [OMIM:607015] synonym: "Hurler–Scheie syndrome" RELATED [GARD:0012560] synonym: "l-iduronidase deficiency, Scheie type" RELATED [] synonym: "MPS I H-S" EXACT [NCIT:C122782] synonym: "MPS1-HS" RELATED [GARD:0012560] synonym: "MPS1H/S" EXACT [Orphanet:93476] synonym: "MPSIH/S" EXACT [Orphanet:93476] synonym: "mucopolysaccharidosis IH/S" RELATED [GARD:0012560] synonym: "mucopolysaccharidosis type 1H/S" EXACT [Orphanet:93476] synonym: "mucopolysaccharidosis type I mild form" RELATED [] synonym: "mucopolysaccharidosis type I-S" RELATED [] synonym: "mucopolysaccharidosis type IH/S" EXACT [Orphanet:93476] synonym: "mucopolysaccharidosis type Ih/S" RELATED [OMIM:607015] synonym: "mucopolysaccharidosis, mps-I-s" EXACT [] synonym: "Scheie disease mps type 1s" RELATED [] synonym: "Scheie's syndrome" RELATED [] xref: DOID:0111389 {source="MONDO:equivalentTo"} xref: MedDRA:10056916 {source="Orphanet:93476", source="Orphanet:93476/e"} xref: NCIT:C122782 {source="MONDO:equivalentTo"} xref: OMIM:607015 {source="Orphanet:93476", source="MONDO:equivalentTo", source="Orphanet:93476/e"} xref: Orphanet:93476 {source="MONDO:equivalentTo", source="OMIM:607015"} xref: SCTID:73123008 {source="MONDO:equivalentTo"} xref: UMLS:C0086431 {source="Orphanet:93476", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C122782", source="Orphanet:93476/e", source="OMIM:607015"} is_a: MONDO:0001586 {source="NCIT:C122782", source="Orphanet:93476"} ! mucopolysaccharidosis type 1 is_a: MONDO:0002254 {source="NCIT:C122782"} ! syndromic disease is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement disjoint_from: MONDO:0011760 ! Scheie syndrome property_value: closeMatch http://identifiers.org/meddra/10056916 property_value: exactMatch DOID:0111389 property_value: exactMatch http://identifiers.org/snomedct/73123008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0086431 property_value: exactMatch https://omim.org/entry/607015 property_value: exactMatch NCIT:C122782 property_value: exactMatch Orphanet:93476 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0011760 name: Scheie syndrome def: "Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." [Orphanet:93474] subset: gard_rare {source="GARD:0012561"} subset: ordo_clinical_subtype {source="Orphanet:93474"} synonym: "MPS I S" EXACT [NCIT:C61265] synonym: "MPS V" RELATED [OMIM:607016] synonym: "MPS V, formerly" RELATED [OMIM:607016] synonym: "MPS1-S" RELATED [GARD:0012561] synonym: "MPS1S" EXACT ABBREVIATION [Orphanet:93474] synonym: "MPS5, formerly" RELATED [GARD:0012561] synonym: "MPSIS" EXACT ABBREVIATION [Orphanet:93474] synonym: "mucopolysaccharidosis Is" RELATED [GARD:0012561] synonym: "mucopolysaccharidosis type 1S" EXACT [DOID:0060222, OMIM:607016, Orphanet:93474] synonym: "mucopolysaccharidosis type IS" EXACT [DOID:0060222, Orphanet:93474] synonym: "mucopolysaccharidosis type V" EXACT [DOID:0060222, OMIM:607016] synonym: "mucopolysaccharidosis type V, formerly" RELATED [OMIM:607016] synonym: "Scheie syndrome" EXACT [OMIM:607016] xref: DOID:0060222 {source="MONDO:equivalentTo"} xref: NCIT:C61265 {source="MONDO:equivalentTo"} xref: OMIM:607016 {source="DOID:0060222", source="Orphanet:93474", source="MONDO:equivalentTo", source="Orphanet:93474/e"} xref: Orphanet:93474 {source="DOID:0060222", source="MONDO:equivalentTo", source="OMIM:607016"} xref: UMLS:C0026708 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C61265", source="OMIM:607016"} is_a: MONDO:0001586 {source="NCIT:C61265", source="Orphanet:93474"} ! mucopolysaccharidosis type 1 is_a: MONDO:0002254 {source="NCIT:C61265"} ! syndromic disease is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement property_value: exactMatch DOID:0060222 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026708 property_value: exactMatch https://omim.org/entry/607016 property_value: exactMatch NCIT:C61265 property_value: exactMatch Orphanet:93474 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12561/scheie-syndrome xsd:anyURI {source="GARD:0012561"} [Term] id: MONDO:0011765 name: multiple epiphyseal dysplasia type 5 def: "Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission." [Orphanet:93311] subset: ordo_disease {source="Orphanet:93311"} synonym: "BHMED" EXACT ABBREVIATION [Orphanet:93311] synonym: "bilateral hereditary micro-epiphyseal dysplasia" EXACT [Orphanet:93311] synonym: "EDM5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607078, Orphanet:93311] synonym: "epiphyseal dysplasia multiple 5" RELATED [GARD:0009794] synonym: "epiphyseal dysplasia, multiple, 5" RELATED [MONDO:Lexical, OMIM:607078] synonym: "epiphyseal dysplasia, multiple, type 5" EXACT [MONDORULE:1, OMIM:607078] synonym: "MATN3 multiple epiphyseal dysplasia (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "MED5" EXACT ABBREVIATION [Orphanet:93311] synonym: "Microepiphyseal dysplasia, bilateral hereditary" RELATED [OMIM:607078] synonym: "multiple epiphyseal dysplasia (disease) caused by mutation in MATN3" EXACT [] synonym: "multiple epiphyseal dysplasia 5" RELATED [GARD:0009794] synonym: "multiple epiphyseal dysplasia, MATN3 related" RELATED [GARD:0009794] synonym: "multiple epiphyseal dysplasia, MATN3-related" RELATED [OMIM:607078] synonym: "Polyepiphyseal dysplasia type 5" EXACT [Orphanet:93311] xref: DOID:0070299 {source="MONDO:equivalentTo"} xref: ICD10CM:Q77.3 {source="Orphanet:93311/attributed", source="Orphanet:93311/ntbt", source="MONDO:relatedTo", source="Orphanet:93311"} xref: MESH:C535505 {source="Orphanet:93311", source="MONDO:equivalentTo", source="Orphanet:93311/e"} xref: OMIM:607078 {source="Orphanet:93311", source="MONDO:equivalentTo", source="Orphanet:93311/e"} xref: Orphanet:93311 {source="MONDO:equivalentTo", source="OMIM:607078"} xref: SCTID:715674008 {source="MONDO:equivalentTo"} xref: UMLS:C1846843 {source="Orphanet:93311", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:607078", source="Orphanet:93311/e"} xref: UMLS:C4275060 {source="MONDO:equivalentTo"} is_a: MONDO:0016648 {source="DC-OMIM:607078", source="MONDO:Redundant", source="OMIM:607078", source="Orphanet:93311"} ! multiple epiphyseal dysplasia property_value: exactMatch DOID:0070299 property_value: exactMatch http://identifiers.org/mesh/C535505 property_value: exactMatch http://identifiers.org/snomedct/715674008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846843 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275060 property_value: exactMatch https://omim.org/entry/607078 property_value: exactMatch Orphanet:93311 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0011766 name: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome subset: ordo_malformation_syndrome {source="Orphanet:168563"} synonym: "46,XY gonadal dysgenesis, partial, with MINIFASCICULAR neuropathy" RELATED [OMIM:607080] synonym: "46XY gonadal dysgenesis with minifascicular neuropathy" EXACT [OMIM:607080, OMIM:genemap2] xref: MESH:C567773 {source="MONDO:equivalentTo"} xref: OMIM:607080 {source="Orphanet:168563", source="MONDO:equivalentTo", source="Orphanet:168563/e"} xref: Orphanet:168563 {source="OMIM:607080", source="MONDO:equivalentTo"} xref: UMLS:C2751325 {source="Orphanet:168563", source="OMIM:607080", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0010765 {source="MESH:C567773"} ! 46,XY complete gonadal dysgenesis property_value: exactMatch http://identifiers.org/mesh/C567773 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751325 property_value: exactMatch https://omim.org/entry/607080 property_value: exactMatch Orphanet:168563 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011771 name: distal spinal muscular atrophy type 3 def: "Distal spinal muscular atrophy type 3 is a rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction." [Orphanet:139547] subset: ordo_disease {source="Orphanet:139547"} synonym: "autosomal recessive distal spinal muscular atrophy type 3" EXACT [Orphanet:139547] synonym: "dHMN3" RELATED [OMIM:607088] synonym: "dHMN3 and dHMN4" EXACT [Orphanet:139547] synonym: "dHMN4" RELATED [OMIM:607088] synonym: "distal hereditary motor neuropathy type 3 and type 4" EXACT [Orphanet:139547] synonym: "dSMA3" EXACT [MONDO:Lexical, OMIM:607088, Orphanet:139547] synonym: "HMN 3" RELATED [OMIM:607088] synonym: "HMN 4" RELATED [OMIM:607088] synonym: "neuronopathy, distal hereditary motor, type 3" RELATED [OMIM:607088] synonym: "neuronopathy, distal hereditary motor, type 4" RELATED [OMIM:607088] synonym: "neuropathy, distal hereditary motor, type 4" RELATED [OMIM:607088] synonym: "spinal muscular atrophy, chronic distal, autosomal recessive" EXACT [OMIM:607088, OMIM:genemap2] synonym: "spinal muscular atrophy, distal, autosomal recessive, 3" RELATED [MONDO:Lexical, OMIM:607088] xref: DOID:0111211 {source="MONDO:equivalentTo"} xref: MESH:C564626 {source="MONDO:equivalentTo"} xref: OMIM:607088 {source="Orphanet:139547", source="MONDO:equivalentTo", source="Orphanet:139547/e"} xref: Orphanet:139547 {source="MONDO:equivalentTo", source="OMIM:607088"} xref: UMLS:C1846823 {source="Orphanet:139547", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:607088"} is_a: EFO:0008525 {source="DC-OMIM:607088", source="MESH:C564626"} ! spinal muscular atrophy is_a: MONDO:0015363 {source="Orphanet:139547"} ! autosomal recessive distal hereditary motor neuropathy property_value: exactMatch DOID:0111211 property_value: exactMatch http://identifiers.org/mesh/C564626 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846823 property_value: exactMatch https://omim.org/entry/607088 property_value: exactMatch Orphanet:139547 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011772 name: B4GALT1-congenital disorder of glycosylation def: "B4GALT1-CDG is a congenital disorder of glycosylation characterized by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localized to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase." [Orphanet:79332] subset: ordo_disease {source="Orphanet:79332"} synonym: "B4GALT1-CDG" EXACT ABBREVIATION [Orphanet:79332] synonym: "B4GALT1-CDG (CDG-IId)" RELATED [GARD:0009841] synonym: "B4GALT1-congenital disorder of glycosylation" EXACT [] synonym: "Beta-1,4-galactosyltransferase deficiency" EXACT [Orphanet:79332] synonym: "carbohydrate deficient glycoprotein syndrome type IId" EXACT [Orphanet:79332] synonym: "CDG 2D" RELATED [GARD:0009841] synonym: "CDG IId" RELATED [OMIM:607091] synonym: "CDG syndrome type IId" EXACT [Orphanet:79332] synonym: "CDG-IId" EXACT [Orphanet:79332] synonym: "CDG2D" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607091, Orphanet:79332] synonym: "congenital disorder of glycosylation type 2d" EXACT [Orphanet:79332] synonym: "congenital disorder of glycosylation type IId" EXACT [Orphanet:79332] synonym: "congenital disorder of glycosylation, type IId" RELATED [MONDO:Lexical, OMIM:607091] xref: DOID:0070256 {source="MONDO:equivalentTo"} xref: MESH:C535753 {source="MONDO:equivalentTo"} xref: OMIM:607091 {source="Orphanet:79332/e", source="MONDO:equivalentTo", source="Orphanet:79332"} xref: Orphanet:79332 {source="OMIM:607091", source="MONDO:equivalentTo"} xref: SCTID:725587007 {source="MONDO:equivalentTo"} xref: UMLS:C2931009 {source="MONDO:equivalentTo", source="Orphanet:79332"} is_a: EFO:0005546 {source="DC-OMIM:607091", source="OMIM:607091"} ! congenital disorder of glycosylation type II is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0017749 {source="Orphanet:79332"} ! disorder of multiple glycosylation is_a: MONDO:0020022 ! central nervous system malformation relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation property_value: exactMatch DOID:0070256 property_value: exactMatch http://identifiers.org/mesh/C535753 property_value: exactMatch http://identifiers.org/snomedct/725587007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931009 property_value: exactMatch https://omim.org/entry/607091 property_value: exactMatch Orphanet:79332 [Term] id: MONDO:0011773 name: anauxetic dysplasia def: "A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation." [DOID:0050640, https://www.ncbi.nlm.nih.gov/books/NBK84550/] comment: Editor note: consider distinct subclass for type 1 subset: ordo_disease {source="Orphanet:93347"} subset: prototype_pattern synonym: "anauxetic dysplasia" EXACT [OMIM:607095] synonym: "anauxetic dysplasia 1" RELATED [DOID:0050640, OMIM:607095] synonym: "anauxetic dysplasia type 1" EXACT [DOID:0050640, MONDORULE:1] synonym: "ANXD1" RELATED ABBREVIATION [OMIM:607095] synonym: "spondyloepimetaphyseal dysplasia, anauxetic type" EXACT [Orphanet:93347] synonym: "spondyloepimetaphyseal dysplasia, Menger type" EXACT [Orphanet:93347] synonym: "spondylometaepiphyseal dysplasia anauxetic type" RELATED [GARD:0009657] synonym: "spondylometaepiphyseal dysplasia Menger type" RELATED [GARD:0009657] synonym: "spondylometaepiphyseal dysplasia, anauxetic type" RELATED [OMIM:607095] synonym: "spondylometaepiphyseal dysplasia, Menger type" EXACT [DOID:0050640] xref: DOID:0080942 {source="MONDO:equivalentTo"} xref: MESH:C538256 {source="MONDO:equivalentTo", source="Orphanet:93347", source="Orphanet:93347/e"} xref: OMIMPS:607095 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:93347 {source="MONDO:equivalentTo", source="OMIM:607095"} xref: UMLS:C1846796 {source="MONDO:equivalentTo", source="OMIM:607095", source="Orphanet:93347", source="Orphanet:93347/e"} xref: UMLS:CN029084 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0016761 {source="DOID:0050640", source="Orphanet:93347"} ! spondyloepiphyseal dysplasia property_value: exactMatch DOID:0080942 property_value: exactMatch http://identifiers.org/mesh/C538256 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846796 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN029084 property_value: exactMatch https://omim.org/phenotypicSeries/PS607095 property_value: exactMatch Orphanet:93347 [Term] id: MONDO:0011776 name: CINCA syndrome def: "Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterized by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs." [Orphanet:1451] subset: ordo_disease {source="Orphanet:1451"} synonym: "chronic infantile neurological cutaneous and articular syndrome" EXACT [NCIT:C116380] synonym: "chronic infantile neurological cutaneous articular syndrome" EXACT [DOID:0090029, Orphanet:1451] synonym: "chronic neurologic cutaneous and articular syndrome" EXACT [DOID:0090029, OMIM:607115] synonym: "CINCA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607115] synonym: "CINCA syndrome" EXACT [MONDO:Lexical, OMIM:607115] synonym: "CINCA/NOMID" EXACT [NCIT:C116380] synonym: "Cryopyrin-associated periodic syndrome 3" RELATED [OMIM:607115] synonym: "cryopyrin-associated periodic syndrome 3" EXACT [DOID:0090029] synonym: "infantile onset multisystem inflammatory disease" RELATED [GARD:0001356] synonym: "infantile-onset multisystem inflammatory disease" EXACT [DOID:0090029, Orphanet:1451] synonym: "IOMID" RELATED ABBREVIATION [GARD:0001356] synonym: "IOMID syndrome" EXACT [DOID:0090029, Orphanet:1451] synonym: "multisystem inflammatory disease, neonatal-onset" RELATED [OMIM:607115] synonym: "neonatal onset multisystem inflammatory disease" RELATED [GARD:0001356] synonym: "neonatal-onset multisystem inflammatory disease" EXACT [DOID:0090029, Orphanet:1451] synonym: "NOMID" EXACT ABBREVIATION [NCIT:C116380] synonym: "NOMID syndrome" EXACT [DOID:0090029, Orphanet:1451] synonym: "Prieur Griscelli syndrome" RELATED [GARD:0001356] synonym: "Prieur-Griscelli syndrome" EXACT [DOID:0090029, Orphanet:1451] xref: DOID:0090029 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C116380 {source="MONDO:equivalentTo"} xref: OMIM:607115 {source="Orphanet:1451", source="MONDO:equivalentTo", source="Orphanet:1451/e", source="DOID:0090029"} xref: Orphanet:1451 {source="MONDO:equivalentTo", source="DOID:0090029", source="OMIM:607115"} xref: SCTID:239826001 {source="MONDO:equivalentTo"} is_a: MONDO:0016168 {source="Orphanet:1451"} ! cryopyrin-associated periodic syndrome is_a: MONDO:0800092 {source="PMID:31633310"} ! hereditary inflammatory or rheumatoid-like osteoarthropathy property_value: exactMatch DOID:0090029 property_value: exactMatch http://identifiers.org/snomedct/239826001 property_value: exactMatch https://omim.org/entry/607115 property_value: exactMatch NCIT:C116380 property_value: exactMatch Orphanet:1451 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0011778 name: multiple epiphyseal dysplasia, Al-Gazali type def: "Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism." [Orphanet:166024] subset: ordo_disease {source="Orphanet:166024"} synonym: "AGBK" RELATED ABBREVIATION [OMIM:607131] synonym: "AL-Gazali-BAKALINOVA syndrome" RELATED [OMIM:607131] synonym: "Al-Gazali-Bakalinova syndrome" RELATED [OMIM:607131] synonym: "macrocephaly with multiple epiphyseal dysplasia and distinctive facies" RELATED [OMIM:607131] synonym: "Mmedf" RELATED [OMIM:607131] synonym: "multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome" EXACT [Orphanet:166024] xref: ICD10CM:Q77.3 {source="Orphanet:166024", source="MONDO:relatedTo", source="Orphanet:166024/attributed", source="Orphanet:166024/ntbt"} xref: MESH:C564621 {source="MONDO:equivalentTo"} xref: OMIM:607131 {source="Orphanet:166024", source="MONDO:equivalentTo", source="Orphanet:166024/e"} xref: Orphanet:166024 {source="MONDO:equivalentTo", source="OMIM:607131"} xref: SCTID:719688002 {source="MONDO:equivalentTo"} is_a: MONDO:0016648 {source="Orphanet:166024"} ! multiple epiphyseal dysplasia property_value: exactMatch http://identifiers.org/mesh/C564621 property_value: exactMatch http://identifiers.org/snomedct/719688002 property_value: exactMatch https://omim.org/entry/607131 property_value: exactMatch Orphanet:166024 [Term] id: MONDO:0011781 name: spinocerebellar ataxia type 17 def: "A rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." [Orphanet:98759] subset: ordo_disease {source="Orphanet:98759"} synonym: "cerebelloparenchymal disorder II" EXACT [MONDO:Lexical, OMIM:213100] synonym: "CPD, late-onset recessive type" RELATED [OMIM:213100] synonym: "CPD2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:213100] synonym: "HDL4" EXACT ABBREVIATION [Orphanet:98759] synonym: "Huntington disease-like 4" EXACT [OMIM:607136, Orphanet:98759] synonym: "olivopontocerebellar atrophy 5" EXACT [MONDO:0008122] synonym: "olivopontocerebellar atrophy type 5" EXACT [MONDORULE:1, OMIM:164700] synonym: "olivopontocerebellar atrophy V" RELATED [OMIM:164700] synonym: "OPCA V" EXACT ABBREVIATION [OMIM:164700] synonym: "OPCA with dementia and extrapyramidal signs" EXACT [OMIM:164700] synonym: "SCA 17" EXACT [GARD:0010469] synonym: "SCA17" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607136, Orphanet:98759] synonym: "spinocerebellar ataxia 17" EXACT [MONDO:Lexical, OMIM:607136] synonym: "spinocerebellar ataxia type 17" EXACT [MONDORULE:2, OMIM:607136] xref: DOID:0050967 {source="MONDO:equivalentTo"} xref: MESH:C563505 {source="MONDO:equivalentTo"} xref: MESH:C564616 {source="MONDO:equivalentTo"} xref: MESH:C565866 {source="MONDO:equivalentTo"} xref: NCIT:C179861 {source="MONDO:equivalentTo"} xref: OMIM:164700 {source="MONDO:equivalentObsolete"} xref: OMIM:213100 {source="MONDO:equivalentObsolete"} xref: OMIM:607136 {source="MONDO:equivalentTo", source="Orphanet:98759", source="DOID:0050967", source="Orphanet:98759/e"} xref: Orphanet:98759 {source="MONDO:equivalentTo", source="OMIM:607136"} xref: SCTID:719249005 {source="MONDO:equivalentTo"} xref: UMLS:C1833995 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:164700"} xref: UMLS:C1846707 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:98759", source="OMIM:607136"} xref: UMLS:C1859299 {source="OMIM:213100", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000114 {source="DC-OMIM:213100"} ! cerebelloparenchymal disorder is_a: MONDO:0015548 {source="Orphanet:98759"} ! Huntington disease-like syndrome is_a: MONDO:0019792 {source="Orphanet:98759"} ! autosomal dominant cerebellar ataxia type I relationship: disease_arises_from_feature EFO:0005772 ! neurodegenerative disease property_value: exactMatch DOID:0050967 property_value: exactMatch http://identifiers.org/mesh/C563505 property_value: exactMatch http://identifiers.org/mesh/C564616 property_value: exactMatch http://identifiers.org/mesh/C565866 property_value: exactMatch http://identifiers.org/snomedct/719249005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833995 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846707 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859299 property_value: exactMatch https://omim.org/entry/607136 property_value: exactMatch NCIT:C179861 property_value: exactMatch Orphanet:98759 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3805 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4444 xsd:anyURI [Term] id: MONDO:0011783 name: ALG12-congenital disorder of glycosylation def: "A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33)." [Orphanet:79324] subset: ordo_disease {source="Orphanet:79324"} synonym: "ALG12-CDG" EXACT ABBREVIATION [Orphanet:79324] synonym: "ALG12-CDG (CDG-Ig)" RELATED [GARD:0009833] synonym: "ALG12-congenital disorder of glycosylation" EXACT [GARD:0009833] synonym: "carbohydrate deficient glycoprotein syndrome type Ig" EXACT [Orphanet:79324] synonym: "CDG 1G" RELATED [GARD:0009833] synonym: "CDG Ig" RELATED [OMIM:607143] synonym: "CDG syndrome type Ig" EXACT [Orphanet:79324] synonym: "CDG-Ig" EXACT [Orphanet:79324] synonym: "CDG1G" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607143, Orphanet:79324] synonym: "CDGIg" EXACT [NCIT:C126873] synonym: "congenital disorder of glycosylation type 1g" EXACT [Orphanet:79324] synonym: "congenital disorder of glycosylation type Ig" EXACT [Orphanet:79324] synonym: "congenital disorder of glycosylation, type Ig" RELATED [MONDO:Lexical, OMIM:607143] synonym: "mannosyltransferase 8 deficiency" EXACT [Orphanet:79324] xref: DOID:0080559 {source="MONDO:equivalentTo"} xref: ICD9:271.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535745 {source="MONDO:equivalentTo"} xref: NCIT:C126873 {source="MONDO:equivalentTo"} xref: OMIM:607143 {source="Orphanet:79324/e", source="MONDO:equivalentTo", source="Orphanet:79324"} xref: Orphanet:79324 {source="MONDO:equivalentTo", source="OMIM:607143"} xref: SCTID:711155008 {source="MONDO:equivalentTo"} xref: UMLS:C2931001 {source="MONDO:equivalentTo", source="OMIM:607143", source="Orphanet:79324"} is_a: EFO:0005545 {source="DC-OMIM:607143"} ! congenital disorder of glycosylation type I is_a: MONDO:0017740 {source="Orphanet:79324"} ! disorder of protein N-glycosylation property_value: exactMatch DOID:0080559 property_value: exactMatch http://identifiers.org/mesh/C535745 property_value: exactMatch http://identifiers.org/snomedct/711155008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931001 property_value: exactMatch https://omim.org/entry/607143 property_value: exactMatch NCIT:C126873 property_value: exactMatch Orphanet:79324 [Term] id: MONDO:0011785 name: hereditary spastic paraplegia 19 def: "Autosomal dominant spastic paraplegia type 19 is a pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy." [Orphanet:100999] subset: ordo_disease {source="Orphanet:100999"} synonym: "autosomal dominant spastic paraplegia 19" EXACT [DOID:0110772] synonym: "autosomal dominant spastic paraplegia type 19" EXACT [DOID:0110772] synonym: "hereditary spastic paraplegia type 19" EXACT [DOID:0110772, MONDORULE:2] synonym: "spastic paraplegia 19" RELATED [GARD:0009588] synonym: "spastic paraplegia 19, autosomal dominant" RELATED [MONDO:Lexical, OMIM:607152] synonym: "SPG19" EXACT ABBREVIATION [DOID:0110772, MONDO:Lexical, OMIM:607152, Orphanet:100999] xref: DOID:0110772 {source="MONDO:equivalentTo"} xref: MESH:C536856 {source="Orphanet:100999/e", source="MONDO:equivalentTo", source="Orphanet:100999"} xref: OMIM:607152 {source="Orphanet:100999/e", source="MONDO:equivalentTo", source="Orphanet:100999", source="DOID:0110772"} xref: Orphanet:100999 {source="MONDO:equivalentTo", source="OMIM:607152", source="DOID:0110772"} xref: SCTID:763375003 {source="MONDO:equivalentTo"} xref: UMLS:C1846685 {source="Orphanet:100999/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:607152", source="Orphanet:100999"} is_a: MONDO:0015088 {source="Orphanet:100999"} ! autosomal dominant pure spastic paraplegia property_value: exactMatch DOID:0110772 property_value: exactMatch http://identifiers.org/mesh/C536856 property_value: exactMatch http://identifiers.org/snomedct/763375003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846685 property_value: exactMatch https://omim.org/entry/607152 property_value: exactMatch Orphanet:100999 [Term] id: MONDO:0011787 name: autosomal recessive limb-girdle muscular dystrophy type 2I def: "Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported." [Orphanet:34515] subset: ordo_disease {source="Orphanet:34515"} synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP" EXACT [MONDO:design_pattern] synonym: "FKRP autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "LGMD-FKRP related" EXACT [https://clinicalgenome.org/affiliation/50061/] synonym: "LGMD2I" EXACT ABBREVIATION [DOID:0110299, Orphanet:34515] synonym: "limb-girdle muscular dystrophy due to FKRP deficiency" EXACT [DOID:0110299, Orphanet:34515] synonym: "limb-girdle muscular dystrophy type 2I" RELATED [GARD:0012533] synonym: "MDDGC5" EXACT ABBREVIATION [DOID:0110299, MONDO:Lexical, OMIM:607155] synonym: "muscular dystrophy limb-girdle type 2I" EXACT [DOID:0110299] synonym: "muscular dystrophy, limb-girdle, type 2I" RELATED [OMIM:607155] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5" EXACT [DOID:0110299] synonym: "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 5" EXACT [NCIT:C126739] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5" RELATED [MONDO:Lexical, OMIM:607155] synonym: "muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related" EXACT [DOID:0110299] synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, Frkp-related" RELATED [OMIM:607155] xref: DOID:0110299 {source="MONDO:equivalentTo"} xref: MESH:C564612 {source="MONDO:equivalentTo"} xref: NCIT:C126739 {source="MONDO:equivalentTo"} xref: OMIM:607155 {source="Orphanet:34515", source="MONDO:equivalentTo", source="Orphanet:34515/e", source="DOID:0110299"} xref: Orphanet:34515 {source="MONDO:equivalentTo", source="OMIM:607155", source="DOID:0110299"} xref: SCTID:718180000 {source="MONDO:equivalentTo"} is_a: MONDO:0015152 {source="DOID:0110299", source="MONDO:Redundant", source="OMIM:607155", source="Orphanet:34515"} ! autosomal recessive limb-girdle muscular dystrophy is_a: MONDO:0016156 {source="Orphanet:34515"} ! qualitative or quantitative defects of FKRP is_a: MONDO:0017745 {source="Orphanet:34515"} ! disorder of O-mannosylglycan synthesis is_a: MONDO:0700066 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in FKRP property_value: exactMatch DOID:0110299 property_value: exactMatch http://identifiers.org/mesh/C564612 property_value: exactMatch http://identifiers.org/snomedct/718180000 property_value: exactMatch https://omim.org/entry/607155 property_value: exactMatch NCIT:C126739 property_value: exactMatch Orphanet:34515 [Term] id: MONDO:0011788 name: cloverleaf skull-multiple congenital anomalies syndrome def: "This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies." [Orphanet:93267] subset: ordo_malformation_syndrome {source="Orphanet:93267"} synonym: "multiple congenital anomalies syndrome with cloverleaf skull" RELATED [OMIM:607161] xref: MESH:C564611 {source="MONDO:equivalentTo"} xref: OMIM:607161 {source="Orphanet:93267", source="MONDO:equivalentTo", source="Orphanet:93267/e"} xref: Orphanet:93267 {source="MONDO:equivalentTo", source="OMIM:607161"} xref: SCTID:717771007 {source="MONDO:equivalentTo"} xref: UMLS:C1846671 {source="Orphanet:93267", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:607161"} is_a: MONDO:0015338 {source="Orphanet:93267"} ! syndromic craniosynostosis property_value: exactMatch http://identifiers.org/mesh/C564611 property_value: exactMatch http://identifiers.org/snomedct/717771007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846671 property_value: exactMatch https://omim.org/entry/607161 property_value: exactMatch Orphanet:93267 [Term] id: MONDO:0011789 name: familial meningioma def: "A meningioma that is transmitted from the parents to an offspring." [NCIT:P378] synonym: "familial meningioma" EXACT [NCIT:C5301] synonym: "hereditary meningioma" EXACT [NCIT:C5301] synonym: "hereditary meningioma (disease)" EXACT [MONDO:patterns/hereditary] synonym: "meningioma" BROAD [OMIM:607174, OMIM:genemap2] synonym: "meningioma, familial, susceptibility to" RELATED [OMIM:607174] synonym: "meningioma, NF2-related, somatic" EXACT [OMIM:607174, OMIM:genemap2] synonym: "meningioma, SIS-related" EXACT [OMIM:607174, OMIM:genemap2] synonym: "susceptibility to familial meningioma" RELATED [OMIM:607174] xref: DOID:4586 {source="MONDO:equivalentTo"} xref: MESH:C537443 {source="DOID:4586", source="MONDO:equivalentTo"} xref: NCIT:C5301 {source="DOID:4586", source="MONDO:equivalentTo"} xref: OMIM:607174 {source="DOID:4586", source="MONDO:equivalentTo"} xref: UMLS:C1333989 {source="DOID:4586", source="MONDO:equivalentTo", source="NCIT:C5301", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0016642 ! meningioma is_a: MONDO:0020573 {source="OMIM:607174"} ! inherited disease susceptibility intersection_of: MONDO:0016642 ! meningioma intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch DOID:4586 property_value: exactMatch http://identifiers.org/mesh/C537443 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333989 property_value: exactMatch https://omim.org/entry/607174 property_value: exactMatch NCIT:C5301 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011790 name: Amish lethal microcephaly def: "Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year." [Orphanet:99742] subset: gard_rare {source="GARD:0008606"} subset: ordo_malformation_syndrome {source="Orphanet:99742"} synonym: "Amish lethal microcephaly" EXACT [OMIM:607196] synonym: "MCPHA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607196] synonym: "microcephaly, Amish type" RELATED [GARD:0008606, MONDO:Lexical, OMIM:607196] synonym: "thiamine metabolism dysfunction syndrome 3 (microcephaly type)" RELATED [OMIM:607196] xref: MESH:C538247 {source="Orphanet:99742", source="MONDO:equivalentTo", source="Orphanet:99742/e"} xref: OMIM:607196 {source="Orphanet:99742", source="MONDO:equivalentTo", source="Orphanet:99742/e"} xref: Orphanet:99742 {source="MONDO:equivalentTo", source="OMIM:607196"} xref: SCTID:702437000 {source="MONDO:equivalentTo"} xref: UMLS:C1846648 {source="Orphanet:99742", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:607196"} is_a: MONDO:0000152 {source="DC-OMIM:607196", source="OMIM:607196"} ! thiamine-responsive dysfunction syndrome relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch http://identifiers.org/mesh/C538247 property_value: exactMatch http://identifiers.org/snomedct/702437000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846648 property_value: exactMatch https://omim.org/entry/607196 property_value: exactMatch Orphanet:99742 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8606/amish-lethal-microcephaly xsd:anyURI {source="GARD:0008606"} [Term] id: MONDO:0011795 name: anonychia-microcephaly syndrome def: "Anonychia-microcephaly syndrome is a multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth." [Orphanet:1094] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1094"} synonym: "anonychia total with microcephaly" RELATED [GARD:0000709] synonym: "anonychia, total, with microcephaly" RELATED [OMIM:607214] synonym: "Teebi-Kaurah syndrome" EXACT [Orphanet:1094] synonym: "total anonychia congenita and microcephaly" RELATED [GARD:0000709] synonym: "total anonychia with microcephaly" RELATED [GARD:0000709] xref: OMIM:607214 {source="GARD:0000709", source="Orphanet:1094/e", source="MONDO:equivalentTo", source="Orphanet:1094"} xref: Orphanet:1094 {source="MONDO:equivalentTo", source="OMIM:607214"} xref: SCTID:720494009 {source="MONDO:equivalentTo"} is_a: MONDO:0015161 {source="Orphanet:1094"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/snomedct/720494009 property_value: exactMatch https://omim.org/entry/607214 property_value: exactMatch Orphanet:1094 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/709/anonychia-total-with-microcephaly xsd:anyURI {source="GARD:0000709"} [Term] id: MONDO:0011797 name: infantile-onset ascending hereditary spastic paralysis def: "Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria." [Orphanet:293168] subset: gard_rare {source="GARD:0004914"} subset: ordo_disease {source="Orphanet:293168"} synonym: "IAHSP" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607225, Orphanet:293168] synonym: "spastic paralysis, infantile onset ascending" RELATED [GARD:0004914] synonym: "spastic paralysis, infantile-onset ascending" RELATED [MONDO:Lexical, OMIM:607225] xref: ICD9:343.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537217 {source="MONDO:equivalentTo"} xref: OMIM:607225 {source="MONDO:equivalentTo", source="Orphanet:293168", source="Orphanet:293168/e"} xref: Orphanet:293168 {source="MONDO:equivalentTo", source="OMIM:607225"} xref: SCTID:703543005 {source="MONDO:equivalentTo"} xref: UMLS:C2931441 {source="MONDO:equivalentTo", source="Orphanet:293168", source="OMIM:607225", source="Orphanet:293168/e"} is_a: MONDO:0100227 ! ALS2-related motor neuron disease property_value: exactMatch http://identifiers.org/mesh/C537217 property_value: exactMatch http://identifiers.org/snomedct/703543005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931441 property_value: exactMatch https://omim.org/entry/607225 property_value: exactMatch Orphanet:293168 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4914/infantile-onset-ascending-hereditary-spastic-paralysis xsd:anyURI {source="GARD:0004914"} [Term] id: MONDO:0011801 name: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 def: "Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia." [Orphanet:94124] subset: ordo_disease {source="Orphanet:94124"} synonym: "autosomal recessive spinocerebellar ataxia with axonal neuropathy" BROAD [DOID:0090115] synonym: "SCAN1" EXACT ABBREVIATION [DOID:0090115, MONDO:Lexical, OMIM:607250, Orphanet:94124] synonym: "spinocerebellar ataxia autosomal recessive with axonal neuropathy" RELATED [GARD:0010000] synonym: "spinocerebellar ataxia type 1 with axonal neuropathy" EXACT [Orphanet:94124] synonym: "spinocerebellar ataxia with axonal neuropathy" RELATED [GARD:0010000] synonym: "spinocerebellar ataxia with axonal neuropathy type 1" RELATED [Orphanet:94124] synonym: "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy" BROAD [OMIM:607250] synonym: "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1" EXACT [] xref: DOID:0090115 {source="MONDO:equivalentTo"} xref: MESH:C537313 {source="MONDO:equivalentTo"} xref: OMIM:607250 {source="Orphanet:94124", source="MONDO:equivalentTo", source="DOID:0090115", source="Orphanet:94124/e"} xref: Orphanet:94124 {source="MONDO:equivalentTo", source="OMIM:607250", source="DOID:0090115"} xref: SCTID:765091006 {source="MONDO:equivalentTo"} xref: UMLS:C1846574 {source="Orphanet:94124", source="MONDO:equivalentTo", source="OMIM:607250", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0020127 {source="Orphanet:94124"} ! hereditary peripheral neuropathy is_a: MONDO:0020771 {source="OMIM:607250"} ! spinocerebellar ataxia, autosomal recessive, with axonal neuropathy property_value: exactMatch DOID:0090115 property_value: exactMatch http://identifiers.org/mesh/C537313 property_value: exactMatch http://identifiers.org/snomedct/765091006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846574 property_value: exactMatch https://omim.org/entry/607250 property_value: exactMatch Orphanet:94124 [Term] id: MONDO:0011803 name: hereditary spastic paraplegia 7 def: "Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia." [Orphanet:99013] subset: ordo_disease {source="Orphanet:99013"} synonym: "autosomal recessive spastic paraplegia 7" EXACT [DOID:0110816] synonym: "hereditary spastic paraplegia 7" EXACT [] synonym: "hereditary spastic paraplegia caused by mutation in SPG7" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia paraplegin type" RELATED [GARD:0004927] synonym: "hereditary spastic paraplegia type 7" EXACT [DOID:0110816, MONDORULE:1] synonym: "spastic paraplegia 7" RELATED [GARD:0004927] synonym: "spastic paraplegia 7, autosomal recessive" RELATED [MONDO:Lexical, OMIM:607259] synonym: "spastic paraplegia type 7" EXACT [DOID:0110816] synonym: "SPG7" EXACT ABBREVIATION [DOID:0110816, MONDO:Lexical, OMIM:607259, Orphanet:99013] synonym: "SPG7 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110816 {source="MONDO:equivalentTo"} xref: MESH:C564599 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: OMIM:607259 {source="Orphanet:99013/e", source="MONDO:equivalentTo", source="DOID:0110816", source="Orphanet:99013"} xref: Orphanet:99013 {source="OMIM:607259", source="MONDO:equivalentTo", source="DOID:0110816"} xref: SCTID:715776003 {source="MONDO:equivalentTo"} xref: UMLS:C1846564 {source="OMIM:607259", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:99013"} xref: UMLS:C3711370 {source="MONDO:equivalentTo", source="Orphanet:99013"} is_a: EFO:0009671 {source="Orphanet:99013"} ! hereditary ataxia is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0017915 {source="Orphanet:99013"} ! pure or complex autosomal recessive spastic paraplegia property_value: exactMatch DOID:0110816 property_value: exactMatch http://identifiers.org/mesh/C564599 property_value: exactMatch http://identifiers.org/snomedct/715776003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846564 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3711370 property_value: exactMatch https://omim.org/entry/607259 property_value: exactMatch Orphanet:99013 [Term] id: MONDO:0011804 name: autoimmune lymphoproliferative syndrome type 2B def: "Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses." [Orphanet:275517] subset: ordo_disease {source="Orphanet:275517"} synonym: "ALPS with recurrent viral infections" EXACT [DOID:0110116, Orphanet:275517] synonym: "ALPS2B" EXACT ABBREVIATION [DOID:0110116] synonym: "autoimmune lymphoproliferative syndrome caused by mutation in CASP8" EXACT [MONDO:design_pattern] synonym: "autoimmune lymphoproliferative syndrome type IIB" EXACT [DOID:0110116] synonym: "autoimmune lymphoproliferative syndrome with recurrent viral infections" EXACT [DOID:0110116] synonym: "autoimmune lymphoproliferative syndrome, type 2B" RELATED [OMIM:607271] synonym: "autoimmune lymphoproliferative syndrome, type IIB" EXACT [OMIM:607271, OMIM:genemap2] synonym: "CASP8 autoimmune lymphoproliferative syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "caspase 8 deficiency" EXACT [DOID:0110116, OMIM:607271] synonym: "caspase 8 deficiency syndrome" EXACT [DOID:0110116, Orphanet:275517] synonym: "caspase eight deficiency state" EXACT [DOID:0110116] synonym: "caspase-8 deficiency" RELATED [GARD:0009796] synonym: "CEDS" EXACT ABBREVIATION [DOID:0110116, Orphanet:275517] synonym: "Ceds" RELATED [OMIM:607271] xref: DOID:0110116 {source="MONDO:equivalentTo"} xref: OMIM:607271 {source="DOID:0110116", source="Orphanet:275517/e", source="MONDO:equivalentTo", source="Orphanet:275517"} xref: Orphanet:275517 {source="DOID:0110116", source="MONDO:equivalentTo", source="OMIM:607271"} xref: SCTID:722290008 {source="MONDO:equivalentTo"} is_a: MONDO:0017979 {source="DC-OMIM:607271", source="DOID:0110116", source="MONDO:Redundant"} ! autoimmune lymphoproliferative syndrome property_value: exactMatch DOID:0110116 property_value: exactMatch http://identifiers.org/snomedct/722290008 property_value: exactMatch https://omim.org/entry/607271 property_value: exactMatch Orphanet:275517 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011810 name: horizontal gaze palsy with progressive scoliosis def: "Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla." [Orphanet:2744] subset: gard_rare {source="GARD:0012682"} subset: ordo_disease {source="Orphanet:2744"} subset: prototype_pattern synonym: "gaze palsy, familial horizontal, with progressive scoliosis" RELATED [GARD:0012682, MONDO:Lexical, OMIM:607313] synonym: "gaze palsy, horizontal, with progressive scoliosis" RELATED [GARD:0012682] synonym: "HGPPS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607313, Orphanet:2744] synonym: "ophthalmoplegia, progressive external, and scoliosis" RELATED [OMIM:607313] synonym: "progressive external ophthalmoplegia and scoliosis" EXACT [Orphanet:2744] xref: ICD10CM:H49.4 {source="MONDO:relatedTo", source="Orphanet:2744", source="Orphanet:2744/attributed", source="Orphanet:2744/ntbt"} xref: ICD9:737.43 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C564593 {source="MONDO:equivalentTo"} xref: OMIMPS:607313 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:2744 {source="MONDO:equivalentTo", source="OMIM:607313"} xref: SCTID:702381007 {source="MONDO:equivalentTo"} xref: UMLS:C1846496 {source="MONDO:equivalentTo", source="Orphanet:2744", source="MONDO:ncbi_mim2gene_medline", source="OMIM:607313"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:2744", source="Orphanet:2744/inferred"} ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C564593 property_value: exactMatch http://identifiers.org/snomedct/702381007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846496 property_value: exactMatch https://omim.org/phenotypicSeries/PS607313 property_value: exactMatch Orphanet:2744 property_value: excluded_subClassOf MONDO:0015368 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12682/horizontal-gaze-palsy-with-progressive-scoliosis xsd:anyURI {source="GARD:0012682"} [Term] id: MONDO:0011811 name: autosomal recessive cerebellar ataxia-saccadic intrusion syndrome def: "Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome is a rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances." [Orphanet:95434] subset: ordo_disease {source="Orphanet:95434"} synonym: "SCAR4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607317, Orphanet:95434] synonym: "SCASI" EXACT ABBREVIATION [Orphanet:95434] synonym: "spinocerebellar ataxia 24" RELATED [OMIM:607317] synonym: "spinocerebellar ataxia 24 (formerly)" RELATED [GARD:0004952] synonym: "spinocerebellar ataxia 24, formerly" RELATED [OMIM:607317] synonym: "spinocerebellar ataxia autosomal recessive 4" RELATED [GARD:0004952] synonym: "spinocerebellar ataxia with saccadic Intrusions" RELATED [OMIM:607317] synonym: "spinocerebellar ataxia, autosomal recessive 4" RELATED [MONDO:Lexical, OMIM:607317] xref: DOID:0111611 {source="MONDO:equivalentTo"} xref: MESH:C537310 {source="MONDO:equivalentTo"} xref: OMIM:607317 {source="Orphanet:95434", source="MONDO:equivalentTo", source="Orphanet:95434/e"} xref: Orphanet:95434 {source="OMIM:607317", source="MONDO:equivalentTo"} xref: UMLS:C1846492 {source="OMIM:607317", source="Orphanet:95434", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0020047 {source="Orphanet:95434"} ! autosomal recessive syndromic cerebellar ataxia property_value: exactMatch DOID:0111611 property_value: exactMatch http://identifiers.org/mesh/C537310 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846492 property_value: exactMatch https://omim.org/entry/607317 property_value: exactMatch Orphanet:95434 [Term] id: MONDO:0011812 name: Duane-radial ray syndrome def: "A syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disk coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly).The phenotype overlaps with other SALL4>/i> related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant." [Orphanet:93293] subset: gard_rare {source="GARD:0009182"} subset: ordo_malformation_syndrome {source="Orphanet:959", source="Orphanet:93293"} synonym: "acro-renal-ocular syndrome" EXACT [MONDO:0019863] synonym: "acrorenocular syndrome" EXACT [DOID:0060747, OMIM:607323] synonym: "DR syndrome" EXACT [DOID:0060747, OMIM:607323] synonym: "DRRS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607323] synonym: "Duane anomaly with radial abnormalities and deafness" RELATED [GARD:0009182] synonym: "Duane anomaly with radial ray abnormalities and deafness" EXACT [DOID:0060747, OMIM:607323] synonym: "Duane-radial ray syndrome" EXACT [MONDO:Lexical, OMIM:607323, Orphanet:93293] synonym: "Okihiro syndrome" EXACT [DOID:0060747, GARD:0009182, OMIM:607323] xref: DOID:0060747 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:607323 {source="Orphanet:93293/e", source="MONDO:equivalentTo", source="Orphanet:959", source="DOID:0060747", source="Orphanet:959/ntbt", source="Orphanet:93293"} xref: Orphanet:93293 {source="MONDO:equivalentTo", source="DOID:0060747", source="OMIM:607323"} xref: Orphanet:959 {source="MONDO:equivalentTo"} xref: SCTID:699867001 {source="MONDO:equivalentTo"} xref: SCTID:720415006 {source="MONDO:equivalentTo"} xref: UMLS:CN206803 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 {source="DOID:0060747", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0015246 {source="Orphanet:93293"} ! syndromic anorectal malformation is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect property_value: exactMatch DOID:0060747 property_value: exactMatch http://identifiers.org/snomedct/699867001 property_value: exactMatch http://identifiers.org/snomedct/720415006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206803 property_value: exactMatch https://omim.org/entry/607323 property_value: exactMatch Orphanet:93293 property_value: exactMatch Orphanet:959 property_value: excluded_subClassOf MONDO:0015368 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9182/duane-radial-ray-syndrome xsd:anyURI {source="GARD:0009182"} [Term] id: MONDO:0011816 name: lathosterolosis def: "Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease." [Orphanet:46059] subset: gard_rare {source="GARD:0009711"} subset: ordo_disease {source="Orphanet:46059"} synonym: "lathosterolosis" EXACT [OMIM:607330] synonym: "Sc5D deficiency" RELATED [OMIM:607330] synonym: "sterol C5-desaturase deficiency" EXACT [OMIM:607330, Orphanet:46059] xref: MESH:C537880 {source="Orphanet:46059/e", source="MONDO:equivalentTo", source="Orphanet:46059"} xref: OMIM:607330 {source="Orphanet:46059/e", source="MONDO:equivalentTo", source="Orphanet:46059"} xref: Orphanet:46059 {source="MONDO:equivalentTo", source="OMIM:607330"} xref: SCTID:719257008 {source="MONDO:equivalentTo"} xref: UMLS:C1846421 {source="Orphanet:46059/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:607330", source="Orphanet:46059"} is_a: MONDO:0045017 ! cholesterol biosynthetic process disease property_value: exactMatch http://identifiers.org/mesh/C537880 property_value: exactMatch http://identifiers.org/snomedct/719257008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846421 property_value: exactMatch https://omim.org/entry/607330 property_value: exactMatch Orphanet:46059 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9711/lathosterolosis xsd:anyURI {source="GARD:0009711"} [Term] id: MONDO:0011818 name: isolated focal cortical dysplasia type II subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:268994"} synonym: "CDT" RELATED ABBREVIATION [GARD:0010190] synonym: "cortical dysplasia of Taylor" RELATED [GARD:0010190, OMIM:607341] synonym: "cortical dysplasia of Taylor with balloon cells" RELATED [OMIM:607341] synonym: "cortical dysplasia of Taylor without balloon cells" RELATED [OMIM:607341] synonym: "cortical dysplasia of Taylor, dysplasia only" RELATED [OMIM:607341] synonym: "cortical dysplasia, Taylor type" EXACT [Orphanet:268994] synonym: "FCD 2A" RELATED [OMIM:607341] synonym: "FCD 2B" RELATED [OMIM:607341] synonym: "FCD type II" EXACT [Orphanet:268994] synonym: "Fcd2" RELATED [OMIM:607341] synonym: "FCDT" RELATED ABBREVIATION [GARD:0010190, MONDO:Lexical, OMIM:607341] synonym: "FCORD2" RELATED ABBREVIATION [OMIM:607341] synonym: "focal cortical dysplasia of Taylor" RELATED [MONDO:Lexical, OMIM:607341] synonym: "focal cortical dysplasia of Taylor, type 2A" RELATED [OMIM:607341] synonym: "focal cortical dysplasia of Taylor, type 2B" RELATED [OMIM:607341] synonym: "focal cortical dysplasia type 2" RELATED [GARD:0010190] synonym: "focal cortical dysplasia type II" RELATED [GARD:0010190] synonym: "focal cortical dysplasia, type 2" RELATED [OMIM:607341] synonym: "focal cortical dysplasia, type 2A" RELATED [OMIM:607341] synonym: "focal cortical dysplasia, type 2B" RELATED [OMIM:607341] synonym: "focal cortical dysplasia, type II" RELATED [OMIM:607341] synonym: "focal cortical dysplasia, type II, somatic" EXACT [OMIM:607341, OMIM:genemap2] synonym: "isolated focal cortical dysplasia type 2" EXACT [Orphanet:268994] xref: MESH:C537067 {source="MONDO:equivalentTo"} xref: OMIM:607341 {source="Orphanet:268994", source="MONDO:equivalentTo", source="Orphanet:268994/e", source="GARD:0010190"} xref: Orphanet:268994 {source="MONDO:equivalentTo", source="OMIM:607341"} is_a: MONDO:0019009 {source="Orphanet:268994"} ! isolated focal cortical dysplasia property_value: exactMatch http://identifiers.org/mesh/C537067 property_value: exactMatch https://omim.org/entry/607341 property_value: exactMatch Orphanet:268994 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10190/focal-cortical-dysplasia-of-taylor xsd:anyURI {source="GARD:0010190"} [Term] id: MONDO:0011819 name: spinocerebellar ataxia type 19/22 def: "Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." [Orphanet:98772] subset: ordo_disease {source="Orphanet:98772"} synonym: "SCA19" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607346] synonym: "SCA19/22" EXACT [Orphanet:98772] synonym: "spinocerebellar ataxia 19" RELATED [MONDO:Lexical, OMIM:607346] synonym: "spinocerebellar ataxia 19 and 22" RELATED [GARD:0012365] synonym: "spinocerebellar ataxia 22" RELATED [OMIM:607346] synonym: "spinocerebellar ataxia type 19" EXACT [MONDORULE:2, OMIM:607346] xref: DOID:0050970 {source="MONDO:equivalentTo"} xref: MESH:C537198 {source="Orphanet:98772/e", source="MONDO:equivalentTo", source="Orphanet:98772"} xref: MESH:C542540 {source="MONDO:equivalentTo"} xref: NCIT:C163756 {source="MONDO:equivalentTo"} xref: OMIM:607346 {source="DOID:0050970", source="Orphanet:98772/e", source="MONDO:equivalentTo", source="Orphanet:98772"} xref: Orphanet:98772 {source="MONDO:equivalentTo", source="OMIM:607346"} xref: SCTID:719251009 {source="MONDO:equivalentTo"} is_a: MONDO:0019792 {source="Orphanet:98772"} ! autosomal dominant cerebellar ataxia type I property_value: exactMatch DOID:0050970 property_value: exactMatch http://identifiers.org/mesh/C537198 property_value: exactMatch http://identifiers.org/mesh/C542540 property_value: exactMatch http://identifiers.org/snomedct/719251009 property_value: exactMatch https://omim.org/entry/607346 property_value: exactMatch NCIT:C163756 property_value: exactMatch Orphanet:98772 [Term] id: MONDO:0011822 name: Bartter disease type 3 def: "Classic Bartter syndrome is a type of Bartter syndrome, characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." [Orphanet:93605] subset: ordo_clinical_subtype {source="Orphanet:93605"} synonym: "adult Bartter syndrome" EXACT [Orphanet:93605] synonym: "BARTS3" EXACT ABBREVIATION [DOID:0110144] synonym: "Bartter disease type 3" EXACT [] synonym: "Bartter syndrome classic" RELATED [GARD:0009659] synonym: "Bartter syndrome type 3" EXACT [DOID:0110144, Orphanet:93605] synonym: "Bartter syndrome type III" EXACT [Orphanet:93605] synonym: "Bartter syndrome, classic" RELATED [OMIM:607364] synonym: "Bartter syndrome, type 3" RELATED [OMIM:607364] synonym: "Bartter syndrome, type 3, with hypocalciuria" RELATED [OMIM:607364] synonym: "classic Bartter syndrome" EXACT [DOID:0110144] xref: DOID:0110144 {source="MONDO:equivalentTo"} xref: OMIM:607364 {source="Orphanet:93605/e", source="MONDO:equivalentTo", source="Orphanet:93605", source="DOID:0110144"} xref: Orphanet:93605 {source="MONDO:equivalentTo", source="OMIM:607364"} xref: SCTID:700111000 {source="MONDO:equivalentTo"} xref: UMLS:C1846343 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:607364", source="Orphanet:93605"} is_a: MONDO:0015231 {source="DC-OMIM:607364", source="DOID:0110144", source="OMIM:607364", source="Orphanet:93605"} ! Bartter syndrome property_value: exactMatch DOID:0110144 property_value: exactMatch http://identifiers.org/snomedct/700111000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846343 property_value: exactMatch https://omim.org/entry/607364 property_value: exactMatch Orphanet:93605 [Term] id: MONDO:0011823 name: developmental malformations-deafness-dystonia syndrome def: "Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome." [Orphanet:79107] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:79107"} synonym: "DJO" RELATED ABBREVIATION [MESH:C537704, MONDO:Lexical, OMIM:607371] synonym: "dystonia, juvenile-onset" RELATED [GARD:0009818, MESH:C537704, MONDO:Lexical, OMIM:607371] synonym: "juvenile-onset dystonia" RELATED [GARD:0009818] xref: MESH:C537704 {source="MONDO:equivalentTo"} xref: OMIM:607371 {source="Orphanet:79107", source="GARD:0009818", source="MONDO:equivalentTo", source="Orphanet:79107/e"} xref: Orphanet:79107 {source="MONDO:equivalentTo", source="OMIM:607371"} xref: UMLS:C1846331 {source="GARD:0009818", source="MONDO:equivalentTo", source="OMIM:607371", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015161 {source="Orphanet:79107"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0044807 {source="MONDO:0018265-obsoleted"} ! inherited dystonia property_value: exactMatch http://identifiers.org/mesh/C537704 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846331 property_value: exactMatch https://omim.org/entry/607371 property_value: exactMatch Orphanet:79107 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9818/juvenile-onset-dystonia xsd:anyURI {source="GARD:0009818"} [Term] id: MONDO:0011830 name: lissencephaly due to LIS1 mutation def: "Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia." [Orphanet:95232] subset: ordo_disease {source="Orphanet:95232"} synonym: "LIS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607432] synonym: "lissencephaly 1" RELATED [MONDO:Lexical, OMIM:607432] synonym: "lissencephaly sequence, isolated" RELATED [OMIM:607432] synonym: "lissencephaly, classic" RELATED [OMIM:607432] synonym: "PAFAH1B1-related lissencephaly" EXACT [Orphanet:95232] synonym: "subcortical band heterotopia" RELATED [OMIM:607432] synonym: "subcortical laminar heterotopia" RELATED [OMIM:607432] xref: DOID:0112237 {source="MONDO:equivalentTo"} xref: OMIM:607432 {source="Orphanet:95232", source="MONDO:equivalentTo", source="Orphanet:95232/e"} xref: Orphanet:95232 {source="MONDO:equivalentTo", source="OMIM:607432"} xref: Orphanet:99796 {source="MONDO:relatedTo", source="OMIM:607432"} xref: UMLS:C1848201 {source="MONDO:relatedTo", source="OMIM:607432"} xref: UMLS:CN228917 {source="MONDO:equivalentTo"} is_a: MONDO:0015146 {source="Orphanet:95232"} ! classic lissencephaly property_value: exactMatch DOID:0112237 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN228917 property_value: exactMatch https://omim.org/entry/607432 property_value: exactMatch Orphanet:95232 [Term] id: MONDO:0011831 name: arrhythmogenic right ventricular dysplasia 8 def: "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSP gene." [MONDO:patterns/disease_series_by_gene] synonym: "arrhythmogenic right ventricular cardiomyopathy 8" EXACT [DOID:0110076, OMIM:607450] synonym: "arrhythmogenic right ventricular cardiomyopathy caused by mutation in DSP" EXACT [MONDO:design_pattern] synonym: "arrhythmogenic right ventricular dysplasia 8" EXACT [] synonym: "arrhythmogenic right ventricular dysplasia type 8" EXACT [DOID:0110076, MONDORULE:1] synonym: "arrhythmogenic right ventricular dysplasia, familial, 8" RELATED [MONDO:Lexical, OMIM:607450] synonym: "arrhythmogenic right ventricular dysplasia, familial, type 8" EXACT [MONDORULE:1, OMIM:607450] synonym: "ARVC8" EXACT ABBREVIATION [DOID:0110076] synonym: "ARVD8" EXACT ABBREVIATION [DOID:0110076, MONDO:Lexical, OMIM:607450] synonym: "DSP arrhythmogenic right ventricular cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial arrhythmogenic right ventricular dysplasia 8" EXACT [DOID:0110076] xref: DOID:0110076 {source="MONDO:equivalentTo"} xref: MESH:C564400 {source="MONDO:equivalentTo"} xref: OMIM:607450 {source="MONDO:equivalentTo", source="DOID:0110076"} xref: UMLS:C1843896 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:607450"} is_a: MONDO:0016342 {source="DOID:0110076", source="MESH:C564400", source="MONDO:Redundant", source="OMIM:607450", source="Orphanet:217656/btnt"} ! familial isolated arrhythmogenic right ventricular dysplasia property_value: exactMatch DOID:0110076 property_value: exactMatch http://identifiers.org/mesh/C564400 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843896 property_value: exactMatch https://omim.org/entry/607450 [Term] id: MONDO:0011833 name: spinocerebellar ataxia type 21 def: "Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." [Orphanet:98773] subset: ordo_disease {source="Orphanet:98773"} synonym: "SCA21" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607454, Orphanet:98773] synonym: "spinocerebellar ataxia 21" RELATED [MONDO:Lexical, OMIM:607454] synonym: "spinocerebellar ataxia type 21" EXACT [MONDORULE:2, OMIM:607454] xref: DOID:0050972 {source="MONDO:equivalentTo"} xref: MESH:C537200 {source="Orphanet:98773", source="MONDO:equivalentTo", source="Orphanet:98773/e"} xref: OMIM:607454 {source="Orphanet:98773", source="DOID:0050972", source="MONDO:equivalentTo", source="Orphanet:98773/e"} xref: Orphanet:98773 {source="MONDO:equivalentTo", source="OMIM:607454"} xref: SCTID:718774001 {source="MONDO:equivalentTo"} xref: UMLS:C1843891 {source="Orphanet:98773", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:98773/e", source="OMIM:607454"} xref: UMLS:C4305144 {source="MONDO:equivalentObsolete"} is_a: MONDO:0019792 {source="Orphanet:98773"} ! autosomal dominant cerebellar ataxia type I property_value: exactMatch DOID:0050972 property_value: exactMatch http://identifiers.org/mesh/C537200 property_value: exactMatch http://identifiers.org/snomedct/718774001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843891 property_value: exactMatch https://omim.org/entry/607454 property_value: exactMatch Orphanet:98773 [Term] id: MONDO:0011834 name: spinocerebellar ataxia type 18 def: "Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by sensory neuropathy and cerebellar ataxia." [Orphanet:98771] subset: ordo_disease {source="Orphanet:98771"} synonym: "SCA18" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607458, Orphanet:98771] synonym: "sensorimotor neuropathy with ataxia autosomal dominant" RELATED [GARD:0009976] synonym: "sensorimotor neuropathy with ataxia, autosomal dominant" RELATED [OMIM:607458] synonym: "SMNA" RELATED ABBREVIATION [GARD:0009976] synonym: "spinocerebellar ataxia 18" RELATED [MONDO:Lexical, OMIM:607458] xref: DOID:0050969 {source="MONDO:equivalentTo"} xref: MESH:C537197 {source="Orphanet:98771/e", source="MONDO:equivalentTo", source="Orphanet:98771"} xref: OMIM:607458 {source="Orphanet:98771/e", source="MONDO:equivalentTo", source="DOID:0050969", source="Orphanet:98771"} xref: Orphanet:98771 {source="OMIM:607458", source="MONDO:equivalentTo"} xref: SCTID:719250005 {source="MONDO:equivalentTo"} xref: UMLS:C1843884 {source="OMIM:607458", source="Orphanet:98771/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:98771"} xref: UMLS:C4304848 {source="MONDO:equivalentObsolete"} is_a: MONDO:0019792 {source="Orphanet:98771"} ! autosomal dominant cerebellar ataxia type I property_value: exactMatch DOID:0050969 property_value: exactMatch http://identifiers.org/mesh/C537197 property_value: exactMatch http://identifiers.org/snomedct/719250005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843884 property_value: exactMatch https://omim.org/entry/607458 property_value: exactMatch Orphanet:98771 [Term] id: MONDO:0011835 name: sensory ataxic neuropathy, dysarthria, and ophthalmoparesis def: "A syndrome is characterized by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia." [Orphanet:70595] subset: ordo_disease {source="Orphanet:70595", source="Orphanet:402082"} synonym: "epilepsy, progressive myoclonic, 5" RELATED [MONDO:Lexical, OMIM:613832] synonym: "epilepsy, progressive myoclonic, 5, formerly" RELATED [OMIM:607459] synonym: "epilepsy, progressive myoclonic, type 5" EXACT [MONDORULE:1, OMIM:613832] synonym: "epilepsy, progressive myoclonic, with sensory ataxic neuropathy" RELATED [OMIM:607459] synonym: "EPM5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613832, Orphanet:402082] synonym: "mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)" EXACT [OMIM:607459, OMIM:genemap2] synonym: "PME type 5" EXACT [Orphanet:402082] synonym: "PRICKLE2 progressive myoclonic epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "progressive myoclonic epilepsy caused by mutation in PRICKLE2" EXACT [MONDO:design_pattern] synonym: "progressive myoclonus epilepsy type 5" EXACT [Orphanet:402082] synonym: "SANDO" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607459, Orphanet:70595] synonym: "sensory ataxic neuropathy with mitochondrial DNA deletions, autosomal recessive" RELATED [OMIM:607459] synonym: "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis" EXACT [OMIM:607459] synonym: "sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome" RELATED [Orphanet:70595] synonym: "spinocerebellar ataxia with epilepsy" RELATED [OMIM:607459] xref: DOID:0111276 {source="MONDO:equivalentTo"} xref: OMIM:607459 {source="Orphanet:70595", source="MONDO:equivalentTo", source="Orphanet:70595/e"} xref: OMIM:613832 {source="MONDO:equivalentObsolete", source="Orphanet:402082", source="Orphanet:402082/e"} xref: Orphanet:402082 {source="MONDO:equivalentTo", source="OMIM:613832"} xref: Orphanet:70595 {source="OMIM:607459", source="MONDO:equivalentTo"} xref: UMLS:C1843851 {source="OMIM:607459", source="Orphanet:70595", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:70595/e"} xref: UMLS:CN226157 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0009637 {source="Orphanet:70595"} ! inborn mitochondrial myopathy is_a: MONDO:0015653 ! monogenic epilepsy is_a: MONDO:0016798 {source="Orphanet:70595"} ! ataxia neuropathy spectrum is_a: MONDO:0020127 ! hereditary peripheral neuropathy is_a: MONDO:0100033 ! metabolic epilepsy property_value: exactMatch DOID:0111276 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843851 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226157 property_value: exactMatch https://omim.org/entry/607459 property_value: exactMatch Orphanet:402082 property_value: exactMatch Orphanet:70595 property_value: excluded_subClassOf MONDO:0020074 {source="DC-OMIM:613832", source="Orphanet:402082"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011837 name: vitamin K-dependent clotting factors, combined deficiency of, type 2 def: "Any congenital vitamin K-dependent coagulation factors combined deficiency in which the cause of the disease is a mutation in the VKORC1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in VKORC1" EXACT [MONDO:design_pattern] synonym: "vitamin K-dependent clotting factors, combined deficiency of, 2" EXACT [MONDO:Lexical, MONDORULE:1, OMIM:607473] synonym: "vitamin K-dependent clotting factors, combined deficiency of, type 2" EXACT [] synonym: "VKCFD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607473] synonym: "VKORC1 congenital vitamin K-dependent coagulation factors combined deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0112174 {source="MONDO:equivalentTo"} xref: MESH:C564393 {source="MONDO:equivalentTo"} xref: OMIM:607473 {source="MONDO:equivalentTo"} xref: UMLS:C1843832 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:607473"} is_a: MONDO:0015722 {source="MONDO:Redundant", source="OMIM:607473"} ! congenital vitamin K-dependent coagulation factors deficiency property_value: exactMatch DOID:0112174 property_value: exactMatch http://identifiers.org/mesh/C564393 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843832 property_value: exactMatch https://omim.org/entry/607473 [Term] id: MONDO:0011838 name: Bothnia retinal dystrophy def: "A rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens in the posterior pole are also noted." [Orphanet:85128] subset: ordo_disease {source="Orphanet:85128"} synonym: "Bothnia retinal dystrophy" EXACT [OMIM:607475] synonym: "Vasterbotten dystrophy" EXACT [DOID:0050683, OMIM:607475] synonym: "VC$sterbotten dystrophy" EXACT [Orphanet:85128] synonym: "Västerbotten dystrophy" EXACT [Orphanet:85128] xref: DOID:0050683 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.5 {source="Orphanet:85128", source="MONDO:directSiblingOf", source="Orphanet:85128/attributed", source="Orphanet:85128/ntbt"} xref: MESH:C564392 {source="MONDO:equivalentTo"} xref: OMIM:607475 {source="DOID:0050683", source="MONDO:equivalentTo", source="Orphanet:85128", source="Orphanet:85128/e"} xref: Orphanet:85128 {source="MONDO:equivalentTo", source="OMIM:607475"} xref: SCTID:715647007 {source="MONDO:equivalentTo"} xref: UMLS:C1843816 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:85128", source="OMIM:607475"} is_a: MONDO:0100444 {source="https://clinicalgenome.org/affiliation/40072/"} ! RLBP1-related retinopathy property_value: exactMatch DOID:0050683 property_value: exactMatch http://identifiers.org/mesh/C564392 property_value: exactMatch http://identifiers.org/snomedct/715647007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843816 property_value: exactMatch https://omim.org/entry/607475 property_value: exactMatch Orphanet:85128 [Term] id: MONDO:0011841 name: biotin-responsive basal ganglia disease subset: ordo_disease {source="Orphanet:199348", source="Orphanet:65284"} synonym: "basal ganglia disease, biotin-responsive" RELATED [OMIM:607483] synonym: "BBGD" EXACT ABBREVIATION [Orphanet:65284] synonym: "biotin-thiamine-responsive basal ganglia disease" EXACT [Orphanet:65284] synonym: "BTBGD" EXACT ABBREVIATION [Orphanet:65284] synonym: "encephalopathy, thiamine-responsive" RELATED [OMIM:607483] synonym: "thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)" EXACT [OMIM:607483, OMIM:genemap2] synonym: "thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type)" RELATED [MONDO:Lexical, OMIM:607483] synonym: "thiamine-responsive encephalopathy" EXACT [MONDO:0016050] synonym: "THMD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607483] xref: DOID:0050659 {source="MONDO:equivalentTo"} xref: ICD9:333.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537658 {source="Orphanet:65284/e", source="MONDO:equivalentTo", source="Orphanet:65284"} xref: OMIM:607483 {source="MONDO:equivalentTo", source="Orphanet:65284", source="DOID:0050659", source="Orphanet:65284/ntbt"} xref: Orphanet:199348 {source="MONDO:equivalentTo"} xref: Orphanet:65284 {source="MONDO:equivalentTo", source="OMIM:607483"} xref: SCTID:703522009 {source="MONDO:equivalentTo"} xref: SCTID:723557004 {source="MONDO:equivalentTo"} xref: UMLS:C1843807 {source="Orphanet:65284/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:607483", source="Orphanet:65284"} is_a: EFO:0005595 {source="https://github.com/monarch-initiative/mondo/issues/1520", source="https://orcid.org/0000-0001-5208-3432"} ! toxic encephalopathy is_a: EFO:0009533 {source="DOID:0050659", source="MESH:C537658", source="MONDO:Redundant"} ! basal ganglia disease is_a: MONDO:0000152 {source="DC-OMIM:607483", source="OMIM:607483"} ! thiamine-responsive dysfunction syndrome property_value: exactMatch DOID:0050659 property_value: exactMatch http://identifiers.org/mesh/C537658 property_value: exactMatch http://identifiers.org/snomedct/703522009 property_value: exactMatch http://identifiers.org/snomedct/723557004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843807 property_value: exactMatch https://omim.org/entry/607483 property_value: exactMatch Orphanet:199348 property_value: exactMatch Orphanet:65284 property_value: excluded_subClassOf MONDO:0015653 {source="Orphanet:199348"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4205 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011842 name: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions def: "A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31." [DOID:0060672, PMID:16862116, PMID:16983677] synonym: "aphasia, primary progressive" RELATED [OMIM:607485] synonym: "dementia, hereditary dysphasic disinhibition" RELATED [OMIM:607485] synonym: "frontotemporal dementia with TDP43 inclusions, GRN-related" RELATED [OMIM:607485] synonym: "frontotemporal dementia, ubiquitin-positive" RELATED [OMIM:607485] synonym: "frontotemporal lobar degeneration with TDP43 inclusions, GRN-related" RELATED [OMIM:607485] synonym: "frontotemporal lobar degeneration with ubiquitin-positive inclusions" RELATED [OMIM:607485] synonym: "FTLD-TDP, GRN-related" RELATED [OMIM:607485] xref: DOID:0060672 {source="MONDO:equivalentTo"} xref: OMIM:607485 {source="DOID:0060672", source="MONDO:equivalentTo"} is_a: EFO:0009053 ! Primary progressive aphasia is_a: MONDO:0017276 {source="DOID:0060672"} ! frontotemporal dementia property_value: exactMatch DOID:0060672 property_value: exactMatch https://omim.org/entry/607485 [Term] id: MONDO:0011847 name: migraine without aura, susceptibility to, 4 def: "An inherited susceptibility or predisposition to developing migraines without aura." [MONDO:patterns/inherited_susceptibility] subset: predisposition synonym: "common migraine" RELATED [DOID:12783] synonym: "MGOA" RELATED ABBREVIATION [OMIM:607501] synonym: "MGR4" EXACT ABBREVIATION [OMIM:607501] synonym: "migraine without aura, susceptibility to, 4" EXACT [OMIM:607501] synonym: "migraine without aura, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:607501] xref: DOID:12783 {source="MONDO:relatedTo", source="EFO:0005296"} xref: EFO:0005296 {source="MONDO:relatedTo"} xref: HP:0002083 {source="MONDO:otherHierarchy", source="EFO:0005296"} xref: ICD9:346.1 {source="EFO:0005296", source="DOID:12783"} xref: MESH:D020326 {source="MONDO:relatedTo", source="EFO:0005296", source="DOID:12783"} xref: NCIT:C117004 {source="MONDO:relatedTo", source="EFO:0005296", source="DOID:12783"} xref: OMIM:607501 {source="MONDO:equivalentTo", source="DOID:12783"} xref: SCTID:56097005 {source="MONDO:relatedTo", source="EFO:0005296", source="DOID:12783"} xref: UMLS:C0338480 {source="MONDO:relatedTo", source="NCIT:C117004", source="DOID:12783"} is_a: MONDO:0100246 {source="DC-OMIM:607501", source="DOID:12783", source="EFO:0005296", source="MESH:D020326", source="NCIT:C117004"} ! migraine with or without aura, susceptibility to relationship: predisposes_towards MONDO:0100431 {source="OMIM:607501"} ! migraine without aura property_value: exactMatch https://omim.org/entry/607501 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3984 xsd:anyURI [Term] id: MONDO:0011853 name: Camptosynpolydactyly, complex synonym: "camptopolydactyly, disorganisation type" RELATED OMO:0003005 [] synonym: "camptopolydactyly, disorganization type" RELATED [OMIM:607539] synonym: "camptosynpolydactyly, complex" EXACT [OMIM:607539] synonym: "CCSPD" RELATED ABBREVIATION [OMIM:607539] xref: MESH:C564383 {source="MONDO:equivalentTo"} xref: OMIM:607539 {source="MONDO:equivalentTo"} xref: UMLS:C1843758 {source="OMIM:607539", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C564383 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843758 property_value: exactMatch https://omim.org/entry/607539 [Term] id: MONDO:0011855 name: granular corneal dystrophy type II def: "Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment." [Orphanet:98963] subset: ordo_disease {source="Orphanet:98963"} synonym: "ACD" RELATED ABBREVIATION [OMIM:607541] synonym: "Avellino corneal dystrophy" EXACT [OMIM:607541, Orphanet:98963] synonym: "avellino corneal dystrophy" EXACT [DOID:0060444] synonym: "CDA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607541] synonym: "CGD2" EXACT ABBREVIATION [DOID:0060444] synonym: "combined granular-lattice corneal dystrophies" RELATED [GARD:0009278] synonym: "combined granular-lattice corneal dystrophy" EXACT [DOID:0060444, OMIM:607541] synonym: "corneal dystrophy Avellino type" RELATED [GARD:0009278] synonym: "corneal dystrophy, AVELLINO type" RELATED [MONDO:Lexical, OMIM:607541] synonym: "GCD2" EXACT ABBREVIATION [Orphanet:98963] synonym: "GCDII" EXACT ABBREVIATION [Orphanet:98963] synonym: "granular and lattice corneal dystrophies" RELATED [GARD:0009278] synonym: "granular corneal dystrophy type 2" EXACT [DOID:0060444, Orphanet:98963] synonym: "granular corneal dystrophy, type 2" RELATED [OMIM:607541] synonym: "granular-lattice (Avellino) corneal dystrophy" RELATED [GARD:0009278] synonym: "granular-lattice corneal dystrophy" EXACT [Orphanet:98963] xref: DOID:0060444 {source="MONDO:equivalentTo"} xref: ICD9:371.56 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535474 {source="Orphanet:98963", source="DOID:0060444", source="MONDO:equivalentTo", source="Orphanet:98963/e"} xref: OMIM:607541 {source="Orphanet:98963", source="DOID:0060444", source="MONDO:equivalentTo", source="Orphanet:98963/e"} xref: Orphanet:98963 {source="DOID:0060444", source="MONDO:equivalentTo", source="OMIM:607541"} xref: SCTID:397568004 {source="DOID:0060444", source="MONDO:equivalentTo"} xref: UMLS:C1275685 {source="Orphanet:98963", source="DOID:0060444", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:98963/e", source="OMIM:607541"} is_a: MONDO:0000764 {source="DOID:0060444"} ! epithelial-stromal TGFBI dystrophy is_a: MONDO:0020213 {source="Orphanet:98963"} ! stromal corneal dystrophy property_value: exactMatch DOID:0060444 property_value: exactMatch http://identifiers.org/mesh/C535474 property_value: exactMatch http://identifiers.org/snomedct/397568004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275685 property_value: exactMatch https://omim.org/entry/607541 property_value: exactMatch Orphanet:98963 [Term] id: MONDO:0011856 name: spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome subset: ordo_disease {source="Orphanet:168552"} synonym: "SmD with bowed forearms and Facial Dysmorphism" RELATED [OMIM:607543] synonym: "SmD with with bowed forearms and facial dysmorphism" RELATED [GARD:0008719] synonym: "spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism" RELATED [OMIM:607543] xref: DOID:0112305 {source="MONDO:equivalentTo"} xref: MESH:C535791 {source="Orphanet:168552", source="MONDO:equivalentTo", source="Orphanet:168552/e"} xref: OMIM:607543 {source="Orphanet:168552", source="MONDO:equivalentTo", source="Orphanet:168552/e"} xref: Orphanet:168552 {source="MONDO:equivalentTo", source="OMIM:607543"} xref: UMLS:C1843706 {source="Orphanet:168552", source="MONDO:equivalentTo", source="Orphanet:168552/e", source="MONDO:ncbi_mim2gene_medline", source="OMIM:607543"} is_a: MONDO:0016763 {source="Orphanet:168552"} ! spondylometaphyseal dysplasia property_value: exactMatch DOID:0112305 property_value: exactMatch http://identifiers.org/mesh/C535791 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843706 property_value: exactMatch https://omim.org/entry/607543 property_value: exactMatch Orphanet:168552 [Term] id: MONDO:0011862 name: hereditary spastic paraplegia 24 def: "A hereditary spastic paraplegia that has material basis in variation in the chromosome region 13q14." [DOID:0110775, PMID:12499481] subset: ordo_disease {source="Orphanet:101004"} synonym: "autosomal recessive spastic paraplegia 24" EXACT [DOID:0110775] synonym: "autosomal recessive spastic paraplegia type 24" EXACT [DOID:0110775] synonym: "hereditary spastic paraplegia type 24" EXACT [DOID:0110775, MONDORULE:2] synonym: "spastic paraplegia 24" RELATED [GARD:0009296] synonym: "spastic paraplegia 24, autosomal recessive" RELATED [MONDO:Lexical, OMIM:607584] synonym: "SPG24" EXACT ABBREVIATION [DOID:0110775, MONDO:Lexical, OMIM:607584, Orphanet:101004] xref: DOID:0110775 {source="MONDO:equivalentTo"} xref: MESH:C564375 {source="MONDO:equivalentTo"} xref: OMIM:607584 {source="DOID:0110775", source="Orphanet:101004", source="MONDO:equivalentTo", source="Orphanet:101004/e"} xref: Orphanet:101004 {source="DOID:0110775", source="MONDO:equivalentTo", source="OMIM:607584"} xref: UMLS:C1843569 {source="Orphanet:101004", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:607584"} is_a: MONDO:0015089 {source="Orphanet:101004"} ! autosomal recessive complex spastic paraplegia property_value: exactMatch DOID:0110775 property_value: exactMatch http://identifiers.org/mesh/C564375 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843569 property_value: exactMatch https://omim.org/entry/607584 property_value: exactMatch Orphanet:101004 [Term] id: MONDO:0011868 name: lethal congenital contracture syndrome 2 def: "Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported." [Orphanet:137776] subset: gard_rare {source="GARD:0009177"} subset: ordo_malformation_syndrome {source="Orphanet:137776"} synonym: "ERBB3 lethal congenital contracture syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "LCCS2" EXACT ABBREVIATION [DOID:0060560, MONDO:Lexical, OMIM:607598, Orphanet:137776] synonym: "lethal congenital contractural syndrome 2" EXACT [OMIM:607598, OMIM:genemap2] synonym: "lethal congenital contracture syndrome 2" EXACT [MONDO:Lexical, OMIM:607598] synonym: "lethal congenital contracture syndrome caused by mutation in ERBB3" EXACT [MONDO:design_pattern] synonym: "lethal congenital contracture syndrome type 2" EXACT [DOID:0060560, MONDORULE:1, OMIM:607598] synonym: "multiple contracture syndrome, Israeli Bedouin type" RELATED [GARD:0009177] synonym: "multiple contracture syndrome, Israeli Bedouin type a" RELATED [OMIM:607598] synonym: "multiple contracture syndrome, Israeli-Bedouin type" EXACT [DOID:0060560, Orphanet:137776] xref: DOID:0060560 {source="MONDO:equivalentTo"} xref: MESH:C564369 {source="DOID:0060560", source="MONDO:equivalentTo"} xref: OMIM:607598 {source="DOID:0060560", source="Orphanet:137776", source="MONDO:equivalentTo", source="Orphanet:137776/e"} xref: Orphanet:137776 {source="MONDO:equivalentTo", source="OMIM:607598"} xref: Orphanet:137783 {source="DOID:0060560", source="MONDO:directSiblingOf"} xref: SCTID:715419004 {source="MONDO:equivalentTo"} xref: UMLS:C1843478 {source="Orphanet:137776", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:607598"} xref: UMLS:C4275145 {source="MONDO:equivalentTo"} is_a: MONDO:0015161 {source="Orphanet:137776"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0017436 {source="DC-OMIM:607598", source="DOID:0060560", source="MONDO:Redundant", source="OMIM:607598", source="Orphanet:137776"} ! lethal congenital contracture syndrome property_value: exactMatch DOID:0060560 property_value: exactMatch http://identifiers.org/mesh/C564369 property_value: exactMatch http://identifiers.org/snomedct/715419004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843478 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275145 property_value: exactMatch https://omim.org/entry/607598 property_value: exactMatch Orphanet:137776 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9177/lethal-congenital-contracture-syndrome-2 xsd:anyURI {source="GARD:0009177"} [Term] id: MONDO:0011869 name: epidermolysis bullosa simplex superficialis def: "Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized or acral superficial erosions in the absence of blisters." [Orphanet:89839] subset: ordo_disease {source="Orphanet:89839"} synonym: "EBSS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607600, Orphanet:89839] synonym: "epidermolysis bullosa simplex superficialis" EXACT [MONDO:Lexical, OMIM:607600] xref: MESH:C564368 {source="MONDO:equivalentTo"} xref: OMIM:607600 {source="MONDO:equivalentTo", source="Orphanet:89839", source="Orphanet:89839/e"} xref: Orphanet:89839 {source="OMIM:607600", source="MONDO:equivalentObsolete"} xref: UMLS:C1843477 {source="OMIM:607600", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:89839"} is_a: MONDO:0015550 {source="Orphanet:89839"} ! suprabasal epidermolysis bullosa simplex property_value: exactMatch http://identifiers.org/mesh/C564368 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843477 property_value: exactMatch https://omim.org/entry/607600 [Term] id: MONDO:0011870 name: annular epidermolytic ichthyosis def: "Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities." [Orphanet:281139] subset: ordo_disease {source="Orphanet:281139"} synonym: "AEI" EXACT ABBREVIATION [Orphanet:281139] synonym: "Ciehk" RELATED [OMIM:607602] synonym: "epidermolytic ichthyosis, annular" RELATED [OMIM:607602] synonym: "ichthyosis, annular epidermolytic" EXACT [OMIMPS:607602] synonym: "ichthyosis, cyclic, with epidermolytic hyperkeratosis" RELATED [OMIM:607602] xref: MESH:C564367 {source="MONDO:equivalentTo"} xref: OMIMPS:607602 {source="MONDO:equivalentTo"} xref: Orphanet:281139 {source="OMIM:607602", source="MONDO:equivalentTo"} xref: SCTID:718631006 {source="MONDO:equivalentTo"} xref: UMLS:C1843463 {source="OMIM:607602", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0020702 ! autosomal dominant epidermolytic ichthyosis property_value: exactMatch http://identifiers.org/mesh/C564367 property_value: exactMatch http://identifiers.org/snomedct/718631006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843463 property_value: exactMatch https://omim.org/phenotypicSeries/PS607602 property_value: exactMatch Orphanet:281139 [Term] id: MONDO:0011871 name: Niemann-Pick disease type B def: "Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea" [Orphanet:77293] subset: gard_rare {source="GARD:0010729"} subset: ordo_disease {source="Orphanet:77293"} synonym: "Niemann Pick disease type B" RELATED [GARD:0010729] synonym: "Niemann-Pick disease, Intermediate, with visceral involvement and rapid progression" RELATED [OMIM:607616] synonym: "Niemann-PICK disease, type B" RELATED [OMIM:607616] synonym: "Niemann-Pick disease, type E" RELATED [OMIM:607616] synonym: "Niemann-Pick disease, type F" RELATED [OMIM:607616] synonym: "type B Niemann-Pick disease" EXACT [NCIT:C126866] xref: DOID:0070112 {source="MONDO:equivalentTo"} xref: ICD10CM:E75.241 {source="MONDO:equivalentTo"} xref: MESH:D052537 {source="MONDO:equivalentTo", source="Orphanet:77293", source="Orphanet:77293/e"} xref: NCIT:C126866 {source="MONDO:equivalentTo"} xref: OMIM:607616 {source="DOID:0070112", source="MONDO:equivalentTo", source="Orphanet:77293", source="Orphanet:77293/e"} xref: Orphanet:77293 {source="OMIM:607616", source="MONDO:equivalentTo"} xref: Orphanet:99022 {source="OMIM:607616", source="MONDO:directSiblingOf"} xref: SCTID:39390005 {source="MONDO:equivalentTo"} xref: UMLS:C0268243 {source="OMIM:607616", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:77293", source="NCIT:C126866", source="Orphanet:77293/e"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0017014 ! interstitial lung disease specific to childhood is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy is_a: MONDO:0100464 {source="https://clinicalgenome.org/affiliation/40110/"} ! acid sphingomyelinase deficiency property_value: closeMatch Orphanet:99022 property_value: exactMatch DOID:0070112 property_value: exactMatch http://identifiers.org/mesh/D052537 property_value: exactMatch http://identifiers.org/snomedct/39390005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268243 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E75.241 property_value: exactMatch https://omim.org/entry/607616 property_value: exactMatch NCIT:C126866 property_value: exactMatch Orphanet:77293 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4984 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10729/niemann-pick-disease-type-b xsd:anyURI {source="GARD:0010729"} [Term] id: MONDO:0011872 name: Griscelli syndrome type 2 def: "Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood." [https://rarediseases.info.nih.gov/diseases/4483/griscelli-syndrome-type-2] subset: gard_rare {source="GARD:0004483"} subset: ordo_clinical_subtype {source="Orphanet:79477"} synonym: "Griscelli disease type 2" RELATED [Orphanet:79477] synonym: "Griscelli syndrome type 2" EXACT [] synonym: "Griscelli syndrome with hemophagocytic syndrome" EXACT [DOID:0060833] synonym: "Griscelli syndrome, type 2" RELATED [MONDO:Lexical, OMIM:607624] synonym: "Griscelli-PruniC)ras syndrome type 2" EXACT [Orphanet:79477] synonym: "Griscelli-Pruniéras syndrome type 2" EXACT [DOID:0060833] synonym: "Griscelli-Pruni��ras syndrome type 2" EXACT [DOID:0060833] synonym: "GS2" EXACT ABBREVIATION [DOID:0060833, MONDO:Lexical, OMIM:607624] synonym: "hypopigmentation-immunodeficiency with or without neurologic impairment syndrome" EXACT [DOID:0060833, Orphanet:79477] synonym: "PAID syndrome" EXACT [DOID:0060833] synonym: "Paid syndrome" RELATED [OMIM:607624] synonym: "partial albinism and immunodeficiency syndrome" EXACT [DOID:0060833, OMIM:607624] xref: DOID:0060833 {source="MONDO:equivalentTo"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:79477/attributed", source="Orphanet:79477/ntbt", source="DOID:0060833", source="Orphanet:79477"} xref: MESH:C537302 {source="Orphanet:79477/e", source="MONDO:equivalentTo", source="DOID:0060833", source="Orphanet:79477"} xref: NCIT:C111814 {source="MONDO:equivalentTo"} xref: OMIM:607624 {source="Orphanet:79477/e", source="MONDO:equivalentTo", source="DOID:0060833", source="Orphanet:79477"} xref: Orphanet:79477 {source="OMIM:607624", source="MONDO:equivalentTo", source="DOID:0060833"} xref: UMLS:C1868679 {source="NCIT:C111814", source="OMIM:607624", source="Orphanet:79477/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:0060833", source="Orphanet:79477"} is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia is_a: MONDO:0015541 ! hereditary hemophagocytic lymphohistiocytosis is_a: MONDO:0018306 {source="DC-OMIM:607624", source="DOID:0060833", source="MONDO:Redundant", source="OMIM:607624", source="Orphanet:79477"} ! Griscelli syndrome property_value: exactMatch DOID:0060833 property_value: exactMatch http://identifiers.org/mesh/C537302 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868679 property_value: exactMatch https://omim.org/entry/607624 property_value: exactMatch NCIT:C111814 property_value: exactMatch Orphanet:79477 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4483/griscelli-syndrome-type-2 xsd:anyURI {source="GARD:0004483"} [Term] id: MONDO:0011874 name: neonatal ichthyosis-sclerosing cholangitis syndrome def: "Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis." [Orphanet:59303] subset: ordo_disease {source="Orphanet:59303"} synonym: "ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis" RELATED [OMIM:607626] synonym: "ichthyosis-hypotrichosis-sclerosing cholangitis syndrome" EXACT [Orphanet:59303] synonym: "ichthyosis-sclerosing cholangitis syndrome" RELATED [OMIM:607626] synonym: "IHSC" EXACT ABBREVIATION [Orphanet:59303] synonym: "ILVASC" RELATED ABBREVIATION [OMIM:607626] synonym: "Ilvasc" RELATED [OMIM:607626] synonym: "neonatal ichthyosis-sclerosing cholangitis syndrome" EXACT [OMIM:607626] synonym: "NISCH syndrome" EXACT [Orphanet:59303] synonym: "Nisch syndrome" RELATED [OMIM:607626] xref: MESH:C564365 {source="MONDO:equivalentTo"} xref: OMIM:607626 {source="Orphanet:59303/e", source="MONDO:equivalentTo", source="Orphanet:59303"} xref: Orphanet:59303 {source="OMIM:607626", source="MONDO:equivalentTo"} xref: SCTID:724278007 {source="MONDO:equivalentTo"} xref: UMLS:C1843355 {source="OMIM:607626", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:59303"} is_a: EFO:0004268 {source="Orphanet:59303"} ! sclerosing cholangitis is_a: MONDO:0015509 {source="MONDO:Redundant", source="Orphanet:59303"} ! hereditary biliary tract disease is_a: MONDO:0017270 ! autosomal ichthyosis syndrome property_value: exactMatch http://identifiers.org/mesh/C564365 property_value: exactMatch http://identifiers.org/snomedct/724278007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843355 property_value: exactMatch https://omim.org/entry/607626 property_value: exactMatch Orphanet:59303 [Term] id: MONDO:0011876 name: juvenile absence epilepsy def: "Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks." [Orphanet:1941] subset: ordo_disease {source="Orphanet:1941"} subset: predisposition synonym: "EJA1" RELATED ABBREVIATION [OMIM:607631] synonym: "epilepsy juvenile absence" RELATED [GARD:0002162] synonym: "epilepsy, juvenile absence, susceptibility to, 1" RELATED [MONDO:Lexical, OMIM:607631] synonym: "epilepsy, juvenile absence, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:607631] synonym: "JAE" EXACT ABBREVIATION [Orphanet:1941] synonym: "susceptibility to juvenile absence epilepsy 1" RELATED [OMIM:607631] xref: DOID:0060172 {source="MONDO:equivalentTo"} xref: NCIT:C129868 {source="MONDO:equivalentTo"} xref: OMIMPS:607631 {source="MONDO:equivalentTo"} xref: Orphanet:1941 {source="MONDO:equivalentTo", source="OMIM:607631"} xref: SCTID:230413002 {source="MONDO:equivalentTo"} xref: UMLS:C4317339 {source="MONDO:equivalentTo"} is_a: MONDO:0015653 ! monogenic epilepsy is_a: MONDO:0020573 {source="OMIM:607631"} ! inherited disease susceptibility is_a: MONDO:0100030 {source="https://orcid.org/0000-0001-8486-0558"} ! adolescent/adult-onset epilepsy syndrome relationship: predisposes_towards MONDO:0011876 ! juvenile absence epilepsy property_value: exactMatch DOID:0060172 property_value: exactMatch http://identifiers.org/snomedct/230413002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4317339 property_value: exactMatch https://omim.org/phenotypicSeries/PS607631 property_value: exactMatch NCIT:C129868 property_value: exactMatch Orphanet:1941 [Term] id: MONDO:0011877 name: autosomal dominant osteopetrosis 1 def: "Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault." [Orphanet:2783] subset: ordo_malformation_syndrome {source="Orphanet:2783"} synonym: "autosomal dominant osteopetrosis type 1" EXACT [DOID:0110937, MONDORULE:1] synonym: "LRP5 osteopetrosis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "OPTA1" EXACT ABBREVIATION [DOID:0110937, MONDO:Lexical, OMIM:607634] synonym: "osteopetrosis (disease) caused by mutation in LRP5" EXACT [] synonym: "osteopetrosis autosomal dominant type 1" RELATED [GARD:0004151] synonym: "osteopetrosis, autosomal dominant 1" RELATED [MONDO:Lexical, OMIM:607634] synonym: "osteopetrosis, autosomal dominant type 1" EXACT [MONDORULE:1, OMIM:607634] synonym: "osteopetrosis, autosomal dominant, type 1" RELATED [OMIM:607634] xref: DOID:0110937 {source="MONDO:equivalentTo"} xref: MESH:C536056 {source="Orphanet:2783", source="MONDO:equivalentTo", source="DOID:0110937", source="Orphanet:2783/e"} xref: OMIM:607634 {source="Orphanet:2783", source="MONDO:equivalentTo", source="DOID:0110937", source="Orphanet:2783/e"} xref: Orphanet:2783 {source="OMIM:607634", source="MONDO:equivalentTo", source="DOID:0110937"} xref: UMLS:C1843330 {source="OMIM:607634", source="Orphanet:2783", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0020645 ! autosomal dominant osteopetrosis property_value: exactMatch DOID:0110937 property_value: exactMatch http://identifiers.org/mesh/C536056 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843330 property_value: exactMatch https://omim.org/entry/607634 property_value: exactMatch Orphanet:2783 [Term] id: MONDO:0011882 name: skin fragility-woolly hair-palmoplantar keratoderma syndrome subset: gard_rare {source="GARD:0005231"} subset: ordo_disease {source="Orphanet:293165"} synonym: "SFWHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607655] synonym: "skin fragility woolly hair syndrome" RELATED OMO:0003005 [] synonym: "skin fragility wooly hair syndrome" RELATED [GARD:0005231] synonym: "skin fragility-woolly hair syndrome" RELATED [MONDO:Lexical, OMIM:607655] synonym: "skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome" EXACT [Orphanet:293165] xref: MESH:C564359 {source="MONDO:equivalentTo"} xref: OMIM:607655 {source="MONDO:equivalentTo", source="Orphanet:293165", source="Orphanet:293165/e"} xref: Orphanet:293165 {source="OMIM:607655", source="MONDO:equivalentTo"} xref: UMLS:C1843292 {source="OMIM:607655", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0017666 {source="MONDO:0017671-obsoleted"} ! diffuse palmoplantar keratoderma property_value: exactMatch http://identifiers.org/mesh/C564359 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843292 property_value: exactMatch https://omim.org/entry/607655 property_value: exactMatch Orphanet:293165 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5231/skin-fragility-woolly-hair-palmoplantar-keratoderma-syndrome xsd:anyURI {source="GARD:0005231"} [Term] id: MONDO:0011883 name: Curly hair - acral keratoderma - caries syndrome def: "Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age." [Orphanet:307766] subset: gard_rare {source="GARD:0010163"} subset: ordo_disease {source="Orphanet:307766"} synonym: "Chac syndrome" EXACT [Orphanet:307766] synonym: "CHACS" EXACT ABBREVIATION [Orphanet:307766] synonym: "Chacs" RELATED [OMIM:607656] synonym: "Curly hair - acral keratoderma - caries syndrome" EXACT [OMIM:607656] xref: MESH:C536220 {source="MONDO:equivalentTo"} xref: OMIM:607656 {source="Orphanet:307766/e", source="MONDO:equivalentTo", source="Orphanet:307766"} xref: Orphanet:307766 {source="OMIM:607656", source="MONDO:equivalentTo"} is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma is_a: MONDO:0019287 {source="Orphanet:307766"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C536220 property_value: exactMatch https://omim.org/entry/607656 property_value: exactMatch Orphanet:307766 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10163/curly-hair-acral-keratoderma-caries-syndrome xsd:anyURI {source="GARD:0010163"} [Term] id: MONDO:0011884 name: hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome def: "Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed." [Orphanet:307936] subset: ordo_disease {source="Orphanet:307936"} synonym: "HOPP syndrome" EXACT [Orphanet:307936] synonym: "Hopp syndrome" RELATED [OMIM:607658] synonym: "hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome" EXACT [Orphanet:307936] synonym: "hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome" EXACT [OMIM:607658] synonym: "hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome" EXACT [Orphanet:307936] synonym: "hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome" EXACT [Orphanet:307936] xref: MESH:C564357 {source="MONDO:equivalentTo"} xref: OMIM:607658 {source="Orphanet:307936", source="MONDO:equivalentTo", source="Orphanet:307936/e"} xref: Orphanet:307936 {source="OMIM:607658", source="MONDO:equivalentTo"} xref: SCTID:763658004 {source="MONDO:equivalentTo"} xref: UMLS:C1843285 {source="OMIM:607658", source="Orphanet:307936", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0017672 {source="MONDO:0020095-obsoleted"} ! focal palmoplantar keratoderma is_a: MONDO:0019287 {source="Orphanet:307936"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C564357 property_value: exactMatch http://identifiers.org/snomedct/763658004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843285 property_value: exactMatch https://omim.org/entry/607658 property_value: exactMatch Orphanet:307936 [Term] id: MONDO:0011886 name: torsion dystonia 13 def: "DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement." [Orphanet:98807] subset: ordo_disease {source="Orphanet:98807"} synonym: "dystonia 13, torsion, autosomal dominant" RELATED [MONDO:Lexical, OMIM:607671] synonym: "DYT13" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607671, Orphanet:98807] synonym: "primary dystonia with mixed phenotype" EXACT [Orphanet:98807] synonym: "primary dystonia, DYT13 type" RELATED [Orphanet:98807] synonym: "primary torsion dystonia with predominant craniocervical or upper limb onset" EXACT [Orphanet:98807] synonym: "torsion dystonia type 13" EXACT [DOID:0090037, MONDORULE:2] xref: DOID:0090037 {source="MONDO:equivalentTo"} xref: MESH:C564354 {source="MONDO:equivalentTo"} xref: OMIM:607671 {source="Orphanet:98807/e", source="MONDO:equivalentTo", source="DOID:0090037", source="Orphanet:98807"} xref: Orphanet:98807 {source="MONDO:equivalentTo", source="DOID:0090037", source="OMIM:607671"} xref: SCTID:719278006 {source="MONDO:equivalentTo"} is_a: MONDO:0015990 {source="Orphanet:98807"} ! focal, segmental or multifocal dystonia property_value: exactMatch DOID:0090037 property_value: exactMatch http://identifiers.org/mesh/C564354 property_value: exactMatch http://identifiers.org/snomedct/719278006 property_value: exactMatch https://omim.org/entry/607671 property_value: exactMatch Orphanet:98807 [Term] id: MONDO:0011888 name: immunodeficiency 67 def: "An immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria." [Orphanet:70592] subset: ordo_disease {source="Orphanet:70592"} synonym: "immunodeficiency 67" EXACT [] synonym: "immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency" EXACT [Orphanet:70592] synonym: "Interleukin receptor-associated kinase deficiency" RELATED [GARD:0010311] synonym: "invasive pneumococcal disease, protection against" RELATED [OMIM:610799] synonym: "invasive pneumococcal disease, recurrent isolated, 1" EXACT [MONDO:Lexical, OMIM:610799] synonym: "invasive pneumococcal disease, recurrent isolated, type 1" EXACT [MONDORULE:1, OMIM:610799] synonym: "IPD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610799] synonym: "IRAK-4 deficiency" RELATED [GARD:0010311] synonym: "IRAK4 deficiency" EXACT [OMIM:607676, Orphanet:70592] synonym: "IRAK4D" RELATED ABBREVIATION [OMIM:607676] xref: MESH:C563662 {source="MONDO:equivalentObsolete"} xref: MESH:C564352 {source="MONDO:equivalentTo"} xref: OMIM:607676 {source="Orphanet:70592", source="MONDO:equivalentTo", source="Orphanet:70592/e"} xref: Orphanet:70592 {source="MONDO:equivalentTo", source="OMIM:607676"} xref: UMLS:C1835828 {source="MONDO:equivalentObsolete", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610799"} xref: UMLS:C1843256 {source="Orphanet:70592", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:607676"} is_a: MONDO:0015979 {source="Orphanet:70592"} ! hereditary predisposition to infections is_a: MONDO:0021094 {source="OMIM:607676"} ! immunodeficiency disease property_value: exactMatch http://identifiers.org/mesh/C564352 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843256 property_value: exactMatch https://omim.org/entry/607676 property_value: exactMatch Orphanet:70592 [Term] id: MONDO:0011889 name: Charcot-Marie-Tooth disease type 2I def: "Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes." [Orphanet:99942] subset: gard_rare {source="GARD:0009197"} subset: ordo_disease {source="Orphanet:99942"} synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2I" RELATED [Orphanet:99942] synonym: "Charcot Marie Tooth disease type 2I" RELATED [GARD:0009197] synonym: "Charcot-Marie-Tooth disease, axonal, type 2I" RELATED [GARD:0009197, MONDO:Lexical, OMIM:607677] synonym: "Charcot-Marie-Tooth disease, type 2I" EXACT [OMIM:607677, OMIM:genemap2] synonym: "Charcot-Marie-Tooth neuropathy type 2I" EXACT [DOID:0110158] synonym: "Charcot-Marie-Tooth neuropathy, type 2I" RELATED [OMIM:607677] synonym: "CMT 2I" RELATED [GARD:0009197] synonym: "CMT2I" EXACT ABBREVIATION [DOID:0110158, MONDO:Lexical, OMIM:607677, Orphanet:99942] xref: DOID:0110158 {source="MONDO:equivalentTo"} xref: OMIM:607677 {source="Orphanet:99942", source="MONDO:equivalentTo", source="Orphanet:99942/e", source="DOID:0110158"} xref: Orphanet:99942 {source="OMIM:607677", source="MONDO:equivalentTo", source="DOID:0110158"} xref: SCTID:717013009 {source="MONDO:equivalentTo"} xref: UMLS:C1837552 {source="OMIM:607677", source="MONDO:directSiblingOf"} xref: UMLS:CN207466 {source="MONDO:equivalentTo"} is_a: MONDO:0011909 ! Charcot-Marie-Tooth disease dominant intermediate D is_a: MONDO:0018993 {source="DOID:0110158", source="Orphanet:99942"} ! Charcot-Marie-Tooth disease type 2 property_value: exactMatch DOID:0110158 property_value: exactMatch http://identifiers.org/snomedct/717013009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207466 property_value: exactMatch https://omim.org/entry/607677 property_value: exactMatch Orphanet:99942 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9197/charcot-marie-tooth-disease-type-2i xsd:anyURI {source="GARD:0009197"} [Term] id: MONDO:0011890 name: Charcot-Marie-Tooth disease type 1D def: "A form of CMT1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis." [Orphanet:101084] subset: gard_rare {source="GARD:0009189"} subset: ordo_disease {source="Orphanet:101084"} synonym: "Charcot Marie Tooth disease type 1D" RELATED [GARD:0009189] synonym: "Charcot-Marie-Tooth disease type 1 caused by mutation in EGR2" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1D" RELATED [GARD:0009189, MONDO:Lexical, OMIM:607678] synonym: "Charcot-Marie-Tooth disease, type 1D" EXACT [OMIM:607678, OMIM:genemap2] synonym: "Charcot-Marie-Tooth neuropathy type 1D" EXACT [DOID:0110150] synonym: "Charcot-Marie-Tooth neuropathy, type 1D" RELATED [OMIM:607678] synonym: "CMT 1D" RELATED [GARD:0009189] synonym: "CMT1D" EXACT ABBREVIATION [DOID:0110150, MONDO:Lexical, OMIM:607678, Orphanet:101084] synonym: "EGR2 Charcot-Marie-Tooth disease type 1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary motor and sensory neuropathy 1D" EXACT [DOID:0110150, OMIM:607678] synonym: "HMSN 1D" RELATED [OMIM:607678] synonym: "HMSN ID" EXACT [DOID:0110150] synonym: "HMSN1D" EXACT ABBREVIATION [DOID:0110150, OMIM:607678] xref: DOID:0110150 {source="MONDO:equivalentTo"} xref: MESH:C537985 {source="Orphanet:101084/e", source="MONDO:equivalentTo", source="Orphanet:101084"} xref: OMIM:607678 {source="Orphanet:101084/e", source="DOID:0110150", source="MONDO:equivalentTo", source="Orphanet:101084"} xref: Orphanet:101084 {source="OMIM:607678", source="DOID:0110150", source="MONDO:equivalentTo"} xref: SCTID:719979008 {source="MONDO:equivalentTo"} xref: UMLS:C1843247 {source="OMIM:607678", source="Orphanet:101084/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:101084"} is_a: MONDO:0019011 {source="DOID:0110150", source="MONDO:Redundant", source="Orphanet:101084"} ! Charcot-Marie-Tooth disease type 1 property_value: exactMatch DOID:0110150 property_value: exactMatch http://identifiers.org/mesh/C537985 property_value: exactMatch http://identifiers.org/snomedct/719979008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843247 property_value: exactMatch https://omim.org/entry/607678 property_value: exactMatch Orphanet:101084 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9189/charcot-marie-tooth-disease-type-1d xsd:anyURI {source="GARD:0009189"} [Term] id: MONDO:0011894 name: Charcot-Marie-Tooth disease type 2E def: "Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor." [Orphanet:99939] subset: gard_rare {source="GARD:0009193"} subset: ordo_disease {source="Orphanet:99939"} synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2E" EXACT [DOID:0110165] synonym: "Charcot Marie Tooth disease type 2E" RELATED [GARD:0009193] synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in NEFL" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, axonal, type 2E" RELATED [GARD:0009193, MONDO:Lexical, OMIM:607684] synonym: "Charcot-Marie-Tooth disease, type 2E" EXACT [OMIM:607684, OMIM:genemap2] synonym: "Charcot-Marie-Tooth neuropathy type 2E" EXACT [DOID:0110165] synonym: "Charcot-Marie-Tooth neuropathy, type 2E" RELATED [OMIM:607684] synonym: "CMT 2E" RELATED [GARD:0009193] synonym: "CMT2E" EXACT ABBREVIATION [DOID:0110165, MONDO:Lexical, OMIM:607684, Orphanet:99939] synonym: "NEFL Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110165 {source="MONDO:equivalentTo"} xref: MESH:C537994 {source="MONDO:equivalentTo"} xref: NCIT:C134953 {source="MONDO:equivalentTo"} xref: OMIM:607684 {source="Orphanet:99939/e", source="MONDO:equivalentTo", source="DOID:0110165", source="Orphanet:99939"} xref: Orphanet:99939 {source="MONDO:equivalentTo", source="DOID:0110165", source="OMIM:607684"} xref: SCTID:717012004 {source="MONDO:equivalentTo"} is_a: MONDO:0018993 {source="DOID:0110165", source="MONDO:Redundant", source="Orphanet:99939"} ! Charcot-Marie-Tooth disease type 2 property_value: exactMatch DOID:0110165 property_value: exactMatch http://identifiers.org/mesh/C537994 property_value: exactMatch http://identifiers.org/snomedct/717012004 property_value: exactMatch https://omim.org/entry/607684 property_value: exactMatch NCIT:C134953 property_value: exactMatch Orphanet:99939 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9193/charcot-marie-tooth-disease-type-2e xsd:anyURI {source="GARD:0009193"} [Term] id: MONDO:0011895 name: idiopathic hypereosinophilic syndrome subset: ordo_disease {source="Orphanet:3260"} synonym: "HES" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607685] synonym: "hypereosinophilic syndrome, idiopathic" RELATED [MONDO:Lexical, OMIM:607685] synonym: "hypereosinophilic syndrome, idiopathic, resistant to imatinib, isolated cases, somatic mutation" EXACT [OMIM:607685, OMIM:genemap2] xref: OMIM:607685 {source="Orphanet:3260/e", source="MONDO:equivalentTo", source="Orphanet:3260"} xref: Orphanet:3260 {source="MONDO:equivalentTo", source="OMIM:607685"} xref: SCTID:423294001 {source="MONDO:equivalentTo"} xref: UMLS:C0206141 {source="Orphanet:3260/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3260", source="OMIM:607685"} is_a: EFO:0000767 ! idiopathic cardiomyopathy is_a: EFO:1001467 {source="Orphanet:3260"} ! Hypereosinophilic syndrome intersection_of: EFO:1001467 ! Hypereosinophilic syndrome intersection_of: has_characteristic MONDO:0700005 ! idiopathic property_value: exactMatch http://identifiers.org/snomedct/423294001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206141 property_value: exactMatch https://omim.org/entry/607685 property_value: exactMatch Orphanet:3260 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011897 name: leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome def: "A syndrome is characterized by ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far, eight cases have been described." [https://orcid.org/0000-0001-5208-3432, Orphanet:137639] subset: ordo_disease {source="Orphanet:137639"} synonym: "4H syndrome" RELATED [OMIM:607694] synonym: "ataxia, delayed dentition, and hypomyelination" RELATED [OMIM:607694] synonym: "ataxia-delayed dentition-hypomyelination syndrome" EXACT [Orphanet:137639] synonym: "ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy" EXACT [DOID:0060794] synonym: "dentoleukoencephalopathy" RELATED [DOID:0060794] synonym: "HLD7" EXACT ABBREVIATION [DOID:0060794, MONDO:Lexical, OMIM:607694] synonym: "hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism" RELATED [DOID:0060794] synonym: "hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome" RELATED [Orphanet:137639] synonym: "hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome" RELATED [DOID:0060794] synonym: "leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism" RELATED [MONDO:Lexical, OMIM:607694] synonym: "leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism" RELATED [OMIM:607694] synonym: "leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition" RELATED [OMIM:607694] synonym: "leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome" EXACT [DOID:0060794] xref: DOID:0060794 {source="MONDO:equivalentTo"} xref: OMIM:607694 {source="DOID:0060794", source="MONDO:equivalentTo", source="Orphanet:137639", source="Orphanet:137639/ntbt"} xref: Orphanet:137639 {source="DOID:0060794", source="MONDO:equivalentTo", source="OMIM:607694"} xref: Orphanet:447893 {source="DOID:0060794", source="MONDO:relatedTo"} xref: Orphanet:447896 {source="DOID:0060794", source="MONDO:relatedTo"} xref: Orphanet:77295 {source="DOID:0060794", source="OMIM:607694", source="MONDO:directSiblingOf"} xref: Orphanet:88637 {source="MONDO:relatedTo", source="OMIM:607694"} xref: SCTID:721846006 {source="MONDO:equivalentTo"} is_a: MONDO:0019046 {source="DOID:0060794", source="DOID:0060794/inferred", source="MONDO:Redundant", source="OMIM:607694", source="Orphanet:137639/inferred"} ! leukodystrophy property_value: exactMatch DOID:0060794 property_value: exactMatch http://identifiers.org/snomedct/721846006 property_value: exactMatch https://omim.org/entry/607694 property_value: exactMatch Orphanet:137639 [Term] id: MONDO:0011899 name: Noonan syndrome-like disorder with loose anagen hair def: "Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome ; a distinctive hair anomaly described as loose anagen hair syndrome ; frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis ; and short stature, often associated with a GH deficiency and psychomotor delays." [Orphanet:2701] subset: clingen subset: ordo_malformation_syndrome {source="Orphanet:2701"} subset: prototype_pattern synonym: "Noonan syndrome-like disorder with loose anagen hair" EXACT [MONDO:Lexical, OMIM:607721] synonym: "Noonan syndrome-like disorder with loose anagen hair 1" RELATED [OMIM:607721] synonym: "Noonan-like syndrome with loose anagen hair" RELATED [GARD:0010719] synonym: "NS/LAH" EXACT [Orphanet:2701] synonym: "NSLH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607721] synonym: "NSLH1" RELATED ABBREVIATION [OMIM:607721] synonym: "Tosti syndrome" EXACT [OMIM:607721, Orphanet:2701] xref: DOID:0080691 {source="MONDO:equivalentTo"} xref: MESH:C564342 {source="MONDO:equivalentTo"} xref: NCIT:C178129 {source="MONDO:equivalentTo"} xref: OMIMPS:607721 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:2701 {source="OMIM:607721", source="MONDO:equivalentTo"} xref: SCTID:723444009 {source="MONDO:equivalentTo"} xref: UMLS:C1843181 {source="OMIM:607721", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C3501846 {source="MONDO:equivalentTo", source="Orphanet:2701"} is_a: MONDO:0010908 ! loose anagen syndrome is_a: MONDO:0015160 {source="Orphanet:2701"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0020297 {source="Orphanet:2701"} ! Noonan syndrome and Noonan-related syndrome is_a: MONDO:0021034 {source="MONDO:Redundant", source="Orphanet:2701"} ! hereditary alopecia property_value: exactMatch DOID:0080691 property_value: exactMatch http://identifiers.org/mesh/C564342 property_value: exactMatch http://identifiers.org/snomedct/723444009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843181 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3501846 property_value: exactMatch https://omim.org/phenotypicSeries/PS607721 property_value: exactMatch NCIT:C178129 property_value: exactMatch Orphanet:2701 [Term] id: MONDO:0011901 name: Charcot-Marie-Tooth disease axonal type 2H def: "Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement." [Orphanet:101102] comment: Not in the OMIM series. {source="OMIM:607731"} subset: ordo_disease {source="Orphanet:101102"} synonym: "AR-CMT2C" EXACT [DOID:0110166, Orphanet:101102] synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features" EXACT [DOID:0110166] synonym: "autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features" EXACT [DOID:0110166] synonym: "autosomal recessive axonal CMT4C2" EXACT [DOID:0110166, Orphanet:101102] synonym: "axonal Charcot-Marie-Tooth disease with pyramidal involvement" EXACT [DOID:0110166, Orphanet:101102] synonym: "Charcot Marie Tooth disease type 2H" RELATED [GARD:0009196] synonym: "Charcot-Marie-Tooth disease type 2H" EXACT [DOID:0110166] synonym: "Charcot-Marie-Tooth disease, axonal, type 2H" RELATED [MONDO:Lexical, OMIM:607731] synonym: "Charcot-Marie-Tooth disease, axonal, with pyramidal features, autosomal recessive" RELATED [OMIM:607731] synonym: "Charcot-Marie-Tooth neuropathy, axonal, with pyramidal features, autosomal recessive" RELATED [OMIM:607731] synonym: "CMT 2H" RELATED [GARD:0009196] synonym: "CMT2H" EXACT ABBREVIATION [DOID:0110166, MONDO:Lexical, OMIM:607731, Orphanet:101102] xref: DOID:0110166 {source="MONDO:equivalentTo"} xref: MESH:C535415 {source="Orphanet:101102", source="MONDO:equivalentTo", source="Orphanet:101102/e"} xref: OMIM:607731 {source="Orphanet:101102", source="MONDO:equivalentTo", source="Orphanet:101102/e", source="DOID:0110166"} xref: Orphanet:101102 {source="MONDO:equivalentTo", source="DOID:0110166", source="OMIM:607731"} xref: SCTID:720637005 {source="MONDO:equivalentTo"} xref: UMLS:C1843173 {source="Orphanet:101102", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:101102/e", source="OMIM:607731"} is_a: MONDO:0018993 {source="DOID:0110166"} ! Charcot-Marie-Tooth disease type 2 property_value: exactMatch DOID:0110166 property_value: exactMatch http://identifiers.org/mesh/C535415 property_value: exactMatch http://identifiers.org/snomedct/720637005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843173 property_value: exactMatch https://omim.org/entry/607731 property_value: exactMatch Orphanet:101102 [Term] id: MONDO:0011902 name: Charcot-Marie-Tooth disease type 1F def: "A form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2).." [Orphanet:101085] subset: gard_rare {source="GARD:0009191"} subset: ordo_disease {source="Orphanet:101085"} synonym: "Charcot Marie Tooth disease type 1F" RELATED [GARD:0009191] synonym: "Charcot-Marie-Tooth disease type 1 caused by mutation in NEFL" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1F" RELATED [GARD:0009191, MONDO:Lexical, OMIM:607734] synonym: "Charcot-Marie-Tooth disease, type 1F" EXACT [OMIM:607734, OMIM:genemap2] synonym: "Charcot-Marie-Tooth neuropathy type 1F" EXACT [DOID:0110149] synonym: "Charcot-Marie-Tooth neuropathy, type 1F" RELATED [OMIM:607734] synonym: "CMT 1F" RELATED [GARD:0009191] synonym: "CMT1F" EXACT ABBREVIATION [DOID:0110149, MONDO:Lexical, OMIM:607734, Orphanet:101085] synonym: "NEFL Charcot-Marie-Tooth disease type 1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110149 {source="MONDO:equivalentTo"} xref: MESH:C537987 {source="MONDO:equivalentTo"} xref: OMIM:607734 {source="DOID:0110149", source="Orphanet:101085/e", source="MONDO:equivalentTo", source="Orphanet:101085"} xref: Orphanet:101085 {source="DOID:0110149", source="OMIM:607734", source="MONDO:equivalentTo"} xref: SCTID:719980006 {source="MONDO:equivalentTo"} xref: UMLS:C1843164 {source="OMIM:607734", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:101085"} is_a: MONDO:0019011 {source="DOID:0110149", source="MONDO:Redundant", source="Orphanet:101085"} ! Charcot-Marie-Tooth disease type 1 property_value: exactMatch DOID:0110149 property_value: exactMatch http://identifiers.org/mesh/C537987 property_value: exactMatch http://identifiers.org/snomedct/719980006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843164 property_value: exactMatch https://omim.org/entry/607734 property_value: exactMatch Orphanet:101085 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9191/charcot-marie-tooth-disease-type-1f xsd:anyURI {source="GARD:0009191"} [Term] id: MONDO:0011903 name: Charcot-Marie-Tooth disease type 2J def: "Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy." [Orphanet:99943] subset: gard_rare {source="GARD:0009198"} subset: ordo_disease {source="Orphanet:99943"} synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2J" RELATED [Orphanet:99943] synonym: "Charcot Marie Tooth disease type 2J" RELATED [GARD:0009198] synonym: "Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities" EXACT [DOID:0110157] synonym: "Charcot-Marie-Tooth disease, axonal, type 2J" RELATED [GARD:0009198, MONDO:Lexical, OMIM:607736] synonym: "Charcot-Marie-Tooth disease, type 2, with hearing loss and pupillary abnormalities" RELATED [OMIM:607736] synonym: "Charcot-Marie-Tooth disease, type 2J" EXACT [OMIM:607736, OMIM:genemap2] synonym: "Charcot-Marie-Tooth neuropathy type 2J" EXACT [DOID:0110157] synonym: "Charcot-Marie-Tooth neuropathy, type 2J" RELATED [OMIM:607736] synonym: "CMT 2J" RELATED [GARD:0009198] synonym: "CMT2J" EXACT ABBREVIATION [DOID:0110157, MONDO:Lexical, OMIM:607736, Orphanet:99943] xref: DOID:0110157 {source="MONDO:equivalentTo"} xref: MESH:C535417 {source="MONDO:equivalentTo"} xref: OMIM:607736 {source="Orphanet:99943", source="MONDO:equivalentTo", source="Orphanet:99943/e", source="DOID:0110157"} xref: Orphanet:99943 {source="OMIM:607736", source="MONDO:equivalentTo", source="DOID:0110157"} xref: SCTID:717014003 {source="MONDO:equivalentTo"} is_a: MONDO:0011909 ! Charcot-Marie-Tooth disease dominant intermediate D is_a: MONDO:0018993 {source="DOID:0110157", source="Orphanet:99943"} ! Charcot-Marie-Tooth disease type 2 property_value: exactMatch DOID:0110157 property_value: exactMatch http://identifiers.org/mesh/C535417 property_value: exactMatch http://identifiers.org/snomedct/717014003 property_value: exactMatch https://omim.org/entry/607736 property_value: exactMatch Orphanet:99943 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9198/charcot-marie-tooth-disease-type-2j xsd:anyURI {source="GARD:0009198"} [Term] id: MONDO:0011905 name: obsolete familial hypercholanemia property_value: IAO:0000231 IAO:0000229 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2940 xsd:anyURI is_obsolete: true replaced_by: MONDO:0031446 [Term] id: MONDO:0011906 name: congenital bile acid synthesis defect 1 def: "Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption." [Orphanet:79301] subset: ordo_disease {source="Orphanet:79301"} synonym: "3-alpha beta-hydroxy-delta-5-C27-steroid oxidoreductase, deficiency of" RELATED [GARD:0009813] synonym: "3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency" RELATED [OMIM:607765] synonym: "3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency type 1" EXACT [Orphanet:79301] synonym: "BASD1" EXACT ABBREVIATION [Orphanet:79301] synonym: "bile acid synthesis defect, congenital, 1" RELATED [MONDO:Lexical, OMIM:607765] synonym: "bile acid synthesis defect, congenital, type 1" EXACT [MONDORULE:1, OMIM:607765] synonym: "CBAS1" EXACT ABBREVIATION [DOID:0111071, MONDO:Lexical, OMIM:607765] synonym: "congenital bile acid synthesis defect 1" EXACT [] synonym: "congenital bile acid synthesis defect caused by mutation in HSD3B7" EXACT [MONDO:design_pattern] synonym: "congenital bile acid synthesis defect type 1" EXACT [DOID:0111071, MONDORULE:1] synonym: "congenital bile acid synthesis defect, type 1" RELATED [GARD:0009813] synonym: "HSD3B7 congenital bile acid synthesis defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111071 {source="MONDO:equivalentTo"} xref: MESH:C535442 {source="DOID:0111071", source="Orphanet:79301/e", source="MONDO:equivalentTo", source="Orphanet:79301"} xref: OMIM:607765 {source="DOID:0111071", source="Orphanet:79301/e", source="MONDO:equivalentTo", source="Orphanet:79301"} xref: Orphanet:79301 {source="OMIM:607765", source="DOID:0111071", source="MONDO:equivalentTo"} is_a: EFO:0009039 {source="DC-OMIM:607765", source="DOID:0111071", source="MONDO:Redundant", source="OMIM:607765", source="Orphanet:79301"} ! Congenital bile acid synthesis defect property_value: exactMatch DOID:0111071 property_value: exactMatch http://identifiers.org/mesh/C535442 property_value: exactMatch https://omim.org/entry/607765 property_value: exactMatch Orphanet:79301 [Term] id: MONDO:0011907 name: acrocapitofemoral dysplasia def: "Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax." [Orphanet:63446] subset: gard_rare {source="GARD:0010605"} subset: ordo_malformation_syndrome {source="Orphanet:63446"} synonym: "ACFD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607778] synonym: "acrocapitofemoral dysplasia" EXACT [MONDO:Lexical, OMIM:607778] xref: DOID:0050604 {source="MONDO:equivalentTo"} xref: MESH:C564334 {source="MONDO:equivalentTo"} xref: OMIM:607778 {source="Orphanet:63446", source="MONDO:equivalentTo", source="Orphanet:63446/e", source="DOID:0050604"} xref: Orphanet:63446 {source="OMIM:607778", source="MONDO:equivalentTo"} xref: SCTID:720416007 {source="MONDO:equivalentTo"} xref: UMLS:C1843096 {source="OMIM:607778", source="Orphanet:63446", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0005571 {source="DOID:0050604"} ! osteochondrodysplasia is_a: MONDO:0019695 {source="Orphanet:63446", source="PMID:31633310"} ! acromelic dysplasia property_value: exactMatch DOID:0050604 property_value: exactMatch http://identifiers.org/mesh/C564334 property_value: exactMatch http://identifiers.org/snomedct/720416007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843096 property_value: exactMatch https://omim.org/entry/607778 property_value: exactMatch Orphanet:63446 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10605/acrocapitofemoral-dysplasia xsd:anyURI {source="GARD:0010605"} [Term] id: MONDO:0011909 name: Charcot-Marie-Tooth disease dominant intermediate D def: "Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor." [Orphanet:100046] subset: ordo_disease {source="Orphanet:100046"} synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type D" EXACT [DOID:0110200] synonym: "Charcot Marie Tooth disease dominant intermediate 3" RELATED [GARD:0009207] synonym: "Charcot-Marie-Tooth disease caused by mutation in MPZ" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease dominant intermediate type D" EXACT [DOID:0110200, MONDORULE:1] synonym: "Charcot-Marie-Tooth disease, dominant intermediate D" RELATED [MONDO:Lexical, OMIM:607791] synonym: "Charcot-Marie-Tooth disease, dominant Intermediate type D" EXACT [MONDORULE:1, OMIM:607791] synonym: "Charcot-Marie-Tooth neuropathy dominant intermediate D" EXACT [DOID:0110200] synonym: "Charcot-Marie-Tooth neuropathy, dominant Intermediate D" RELATED [OMIM:607791] synonym: "CMTDID" EXACT ABBREVIATION [DOID:0110200, MONDO:Lexical, OMIM:607791, Orphanet:100046] synonym: "DI-CMTD" EXACT [DOID:0110200] synonym: "Di-Cmtd" RELATED [OMIM:607791] synonym: "MPZ Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "MPZ-related intermediate Charcot-Marie-Tooth neuropathy" RELATED [GARD:0009207] xref: DOID:0110200 {source="MONDO:equivalentTo"} xref: MESH:C564333 {source="MONDO:equivalentTo"} xref: OMIM:607791 {source="Orphanet:100046", source="MONDO:equivalentTo", source="Orphanet:100046/e", source="DOID:0110200"} xref: Orphanet:100046 {source="MONDO:equivalentTo", source="OMIM:607791", source="DOID:0110200"} xref: SCTID:765747004 {source="MONDO:equivalentTo"} xref: UMLS:C1843075 {source="Orphanet:100046", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:607791"} is_a: MONDO:0019548 {source="Orphanet:100046", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant intermediate Charcot-Marie-Tooth disease property_value: exactMatch DOID:0110200 property_value: exactMatch http://identifiers.org/mesh/C564333 property_value: exactMatch http://identifiers.org/snomedct/765747004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843075 property_value: exactMatch https://omim.org/entry/607791 property_value: exactMatch Orphanet:100046 [Term] id: MONDO:0011911 name: craniolenticulosutural dysplasia def: "Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia." [Orphanet:50814] subset: ordo_malformation_syndrome {source="Orphanet:50814"} synonym: "Boyadjiev-Jabs syndrome" EXACT [OMIM:607812, Orphanet:50814] synonym: "CLSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607812] synonym: "cranio-lenticulo-sutural dysplasia, CLSD" EXACT [DOID:0070307] synonym: "craniolenticulosutural dysplasia" EXACT [MONDO:Lexical, OMIM:607812] xref: DOID:0070307 {source="MONDO:equivalentTo"} xref: MESH:C564332 {source="MONDO:equivalentTo"} xref: OMIM:607812 {source="Orphanet:50814/e", source="MONDO:equivalentTo", source="Orphanet:50814"} xref: Orphanet:50814 {source="OMIM:607812", source="MONDO:equivalentTo"} xref: SCTID:725100001 {source="MONDO:equivalentTo"} xref: UMLS:C1843042 {source="OMIM:607812", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:50814"} is_a: MONDO:0015161 {source="Orphanet:50814"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch DOID:0070307 property_value: exactMatch http://identifiers.org/mesh/C564332 property_value: exactMatch http://identifiers.org/snomedct/725100001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843042 property_value: exactMatch https://omim.org/entry/607812 property_value: exactMatch Orphanet:50814 [Term] id: MONDO:0011916 name: Charcot-Marie-Tooth disease axonal type 2K def: "Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy." [Orphanet:101097] subset: ordo_disease {source="Orphanet:101097"} synonym: "ARCMT2K" EXACT ABBREVIATION [DOID:0110167, Orphanet:101097] synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K" EXACT [DOID:0110167] synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2K" EXACT [DOID:0110167, Orphanet:101097] synonym: "autosomal recessive axonal CMT4C4" EXACT [DOID:0110167, Orphanet:101097] synonym: "autosomal recessive Charcot-Marie-Tooth disease with hoarseness" EXACT [DOID:0110167] synonym: "Charcot-Marie-Tooth disease, autosomal dominant, type 2K" RELATED [OMIM:607831] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K" EXACT [OMIM:607831, OMIM:genemap2] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2K" RELATED [OMIM:607831] synonym: "Charcot-Marie-Tooth disease, axonal, type 2K" RELATED [MONDO:Lexical, OMIM:607831] synonym: "Charcot-Marie-Tooth neuropathy axonal type 2K" EXACT [DOID:0110167] synonym: "Charcot-Marie-Tooth neuropathy, axonal, type 2K" RELATED [OMIM:607831] synonym: "CMT2K" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607831] xref: DOID:0110167 {source="MONDO:equivalentTo"} xref: OMIM:607831 {source="MONDO:equivalentTo", source="Orphanet:101097/btnt", source="DOID:0110167", source="Orphanet:101097"} xref: Orphanet:101097 {source="OMIM:607831", source="MONDO:equivalentTo", source="DOID:0110167"} xref: Orphanet:99944 {source="OMIM:607831", source="MONDO:directSiblingOf"} xref: SCTID:725047007 {source="MONDO:equivalentTo"} xref: UMLS:C1842983 {source="OMIM:607831", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:101097"} xref: UMLS:C1842984 {source="OMIM:607831", source="MONDO:directSiblingOf"} is_a: MONDO:0018993 {source="DOID:0110167"} ! Charcot-Marie-Tooth disease type 2 property_value: exactMatch DOID:0110167 property_value: exactMatch http://identifiers.org/snomedct/725047007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842983 property_value: exactMatch https://omim.org/entry/607831 property_value: exactMatch Orphanet:101097 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011925 name: congenital merosin-deficient muscular dystrophy 1A def: "Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting." [Orphanet:258] subset: ordo_malformation_syndrome {source="Orphanet:258"} synonym: "CMD1A" EXACT ABBREVIATION [DOID:0110636, Orphanet:258] synonym: "congenital merosin-deficient muscular dystrophy type 1A" EXACT [DOID:0110636, MONDORULE:4] synonym: "congenital muscular dystrophy caused by mutation in LAMA2" EXACT [MONDO:design_pattern] synonym: "congenital muscular dystrophy due to laminin alpha2 deficiency" EXACT [DOID:0110636, Orphanet:258] synonym: "congenital muscular dystrophy type 1A" RELATED [Orphanet:258] synonym: "LAMA2 congenital muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "LAMA2-related muscular dystrophy" RELATED [GARD:0003843] synonym: "laminin alpha-2 deficiency" RELATED [GARD:0003843] synonym: "MDC1A" EXACT ABBREVIATION [DOID:0110636, MONDO:Lexical, OMIM:607855, Orphanet:258] synonym: "merosin-deficient congenital muscular dystrophy" RELATED [GARD:0003843] synonym: "merosin-deficient congenital muscular dystrophy type 1A" EXACT [NCIT:C118783] synonym: "merosin-negative congenital muscular dystrophy" EXACT [DOID:0110636, Orphanet:258] synonym: "muscular dystrophy, congenital merosin-deficient" RELATED [OMIM:607855] synonym: "muscular dystrophy, congenital merosin-deficient, 1A" RELATED [MONDO:Lexical, OMIM:607855] synonym: "muscular dystrophy, congenital merosin-deficient, type 1A" EXACT [MONDORULE:4, OMIM:607855] synonym: "muscular dystrophy, congenital, due to partial LAMA2 deficiency" RELATED [OMIM:607855] synonym: "muscular dystrophy, congenital, merosin deficient or partially deficient" EXACT [OMIM:607855, OMIM:genemap2] synonym: "muscular dystrophy, congenital, merosin-deficient" RELATED [GARD:0003843] xref: DOID:0110636 {source="MONDO:equivalentTo"} xref: EFO:0009138 {source="MONDO:equivalentTo"} xref: NCIT:C118783 {source="MONDO:equivalentTo"} xref: OMIM:607855 {source="Orphanet:258", source="DOID:0110636", source="MONDO:equivalentTo", source="Orphanet:258/e"} xref: Orphanet:258 {source="OMIM:607855", source="DOID:0110636", source="MONDO:equivalentTo"} xref: SCTID:111503008 {source="MONDO:equivalentTo"} xref: UMLS:C1263858 {source="Orphanet:258", source="NCIT:C118783", source="OMIM:607855", source="DOID:0110636", source="MONDO:equivalentTo", source="Orphanet:258/e", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019950 {source="DOID:0110636", source="MONDO:Redundant", source="Orphanet:258"} ! congenital muscular dystrophy is_a: MONDO:0100228 {source="PMID:30055037", source="https://clinicalgenome.org/affiliation/40031/"} ! LAMA2-related muscular dystrophy property_value: exactMatch DOID:0110636 property_value: exactMatch http://identifiers.org/snomedct/111503008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1263858 property_value: exactMatch https://omim.org/entry/607855 property_value: exactMatch NCIT:C118783 property_value: exactMatch Orphanet:258 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011927 name: tufted angioma def: "Tufted angioma is a very rare, benign, cutaneous, slow-growing, vascular tumor mostly developing in infancy or early childhood." [Orphanet:1063] subset: ordo_disease {source="Orphanet:1063"} synonym: "angioblastoma of Nakagawa" EXACT [NCIT:C4487] synonym: "angioma tufted" RELATED [GARD:0000425] synonym: "angioma, tufted" RELATED [OMIM:607859] synonym: "Nakagawa angioblastoma" EXACT [Orphanet:1063] synonym: "tufted angioma" EXACT [MONDO:ambiguous, NCIT:C4487, OMIM:607859] synonym: "tufted angioma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "tufted angioma of skin" EXACT [NCIT:C4487] synonym: "tufted angioma of the skin" EXACT [NCIT:C4487] synonym: "tufted hemangioma" EXACT [NCIT:C4487] synonym: "tufted hemangioma of skin" EXACT [NCIT:C4487] synonym: "tufted hemangioma of the skin" EXACT [NCIT:C4487] synonym: "tufted skin angioma" EXACT [NCIT:C4487] xref: HP:0012329 {source="MONDO:otherHierarchy"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9161/0 {source="NCIT:C4487"} xref: MESH:C536924 {source="Orphanet:1063/e", source="MONDO:equivalentTo", source="Orphanet:1063"} xref: NCIT:C4487 {source="MONDO:equivalentTo"} xref: OMIM:607859 {source="Orphanet:1063/e", source="MONDO:equivalentTo", source="Orphanet:1063"} xref: Orphanet:1063 {source="MONDO:equivalentTo", source="OMIM:607859"} xref: SCTID:705155008 {source="MONDO:equivalentTo"} xref: UMLS:C0346073 {source="Orphanet:1063/e", source="MONDO:equivalentTo", source="NCIT:C4487", source="MONDO:ncbi_mim2gene_medline", source="OMIM:607859", source="Orphanet:1063"} is_a: MONDO:0003110 {source="NCIT:C4487"} ! skin hemangioma relationship: has_characteristic MONDO:0021136 {source="MONDO:0016228"} ! rare property_value: exactMatch http://identifiers.org/mesh/C536924 property_value: exactMatch http://identifiers.org/snomedct/705155008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346073 property_value: exactMatch https://omim.org/entry/607859 property_value: exactMatch NCIT:C4487 property_value: exactMatch Orphanet:1063 property_value: IAO:0000589 "tufted angioma (disease)" xsd:string [Term] id: MONDO:0011928 name: caudal duplication def: "Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents." [Orphanet:1756] subset: gard_rare {source="GARD:0001164"} subset: ordo_malformation_syndrome {source="Orphanet:1756"} synonym: "caudal DUPLICATION anomaly" RELATED [OMIM:607864] synonym: "dipygus" EXACT [Orphanet:1756] synonym: "split notochord syndrome" EXACT [Orphanet:1756] xref: MESH:C564315 {source="MONDO:equivalentTo"} xref: OMIM:607864 {source="MONDO:equivalentTo", source="Orphanet:1756", source="Orphanet:1756/e"} xref: Orphanet:1756 {source="OMIM:607864", source="MONDO:equivalentTo"} xref: SCTID:71464000 {source="MONDO:equivalentTo"} xref: UMLS:C1842884 {source="OMIM:607864", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1756"} is_a: MONDO:0015246 {source="Orphanet:1756"} ! syndromic anorectal malformation property_value: exactMatch http://identifiers.org/mesh/C564315 property_value: exactMatch http://identifiers.org/snomedct/71464000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842884 property_value: exactMatch https://omim.org/entry/607864 property_value: exactMatch Orphanet:1756 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1164/caudal-duplication xsd:anyURI {source="GARD:0001164"} [Term] id: MONDO:0011929 name: chromosome 1p36 deletion syndrome def: "A chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency." [Orphanet:1606] subset: gard_rare {source="GARD:0006082"} subset: ordo_malformation_syndrome {source="Orphanet:1606"} synonym: "1p telomere deletion syndrome" EXACT [NCIT:C74983] synonym: "1p36 deletion syndrome" EXACT [DOID:0060410] synonym: "1p36 microdeletion syndrome" EXACT [DECIPHER:18] synonym: "chromosome 1p36 deletion syndrome" EXACT [OMIM:607872] synonym: "chromosome 1p36 deletion syndrome, distal, isolated cases" EXACT [OMIM:607872, OMIM:genemap2] synonym: "Del(1)(p36)" EXACT [Orphanet:1606] synonym: "deletion 1p36" EXACT [DOID:0060410, Orphanet:1606] synonym: "deletion 1pter" EXACT [Orphanet:1606] synonym: "monosomy 1p36" EXACT [DECIPHER:18, DOID:0060410, Orphanet:1606] synonym: "monosomy 1P36 syndrome" RELATED [OMIM:607872] synonym: "monosomy 1pter" EXACT [Orphanet:1606] synonym: "subtelomeric 1p36 deletion" EXACT [DOID:0060410, Orphanet:1606] xref: DECIPHER:18 {source="MONDO:equivalentTo"} xref: DOID:0060410 {source="MONDO:equivalentTo"} xref: ICD9:758.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535362 {source="DOID:0060410", source="MONDO:equivalentTo"} xref: NCIT:C74983 {source="DOID:0060410", source="MONDO:equivalentTo"} xref: OMIM:607872 {source="Orphanet:1606/e", source="DOID:0060410", source="MONDO:equivalentTo", source="Orphanet:1606"} xref: Orphanet:1606 {source="DOID:0060410", source="MONDO:equivalentTo", source="OMIM:607872"} xref: SCTID:699306003 {source="DOID:0060410", source="MONDO:equivalentTo"} xref: UMLS:C1842870 {source="Orphanet:1606/e", source="DOID:0060410", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:607872", source="Orphanet:1606"} is_a: MONDO:0016883 {source="Orphanet:1606"} ! partial deletion of the short arm of chromosome 1 property_value: exactMatch DOID:0060410 property_value: exactMatch http://identifiers.org/mesh/C535362 property_value: exactMatch http://identifiers.org/snomedct/699306003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842870 property_value: exactMatch https://omim.org/entry/607872 property_value: exactMatch NCIT:C74983 property_value: exactMatch Orphanet:1606 property_value: excluded_subClassOf MONDO:0005027 {source="MONDO:0015652-obsoleted"} property_value: excluded_subClassOf MONDO:0016337 {source="Orphanet:1606"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/324 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6082/chromosome-1p36-deletion-syndrome xsd:anyURI {source="GARD:0006082"} [Term] id: MONDO:0011933 name: ALG2-congenital disorder of glycosylation def: "A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive." [Orphanet:79326] subset: ordo_disease {source="Orphanet:79326"} synonym: "ALG2-CDG" EXACT ABBREVIATION [Orphanet:79326] synonym: "ALG2-CDG (CDG-II)" RELATED [GARD:0009836] synonym: "ALG2-congenital disorder of glycosylation" EXACT [] synonym: "carbohydrate deficient glycoprotein syndrome type Ii" EXACT [Orphanet:79326] synonym: "carbohydrate-deficient glycoprotein syndrome type 1I" RELATED [GARD:0009836] synonym: "CDG 1I" EXACT [GARD:0009836] synonym: "CDG Ii" EXACT [OMIM:607906] synonym: "CDG syndrome type Ii" EXACT [Orphanet:79326] synonym: "CDG1I" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607906, Orphanet:79326] synonym: "congenital disorder of glycosylation type 1i" EXACT [Orphanet:79326] synonym: "congenital disorder of glycosylation type Ii" EXACT [Orphanet:79326] synonym: "congenital disorder of glycosylation, type Ii" EXACT [MONDO:Lexical, OMIM:607906] synonym: "mannosyltransferase 2 deficiency" EXACT [Orphanet:79326] xref: DOID:0080561 {source="MONDO:equivalentTo"} xref: OMIM:607906 {source="Orphanet:79326", source="MONDO:equivalentTo", source="Orphanet:79326/e"} xref: Orphanet:79326 {source="MONDO:equivalentTo", source="OMIM:607906"} is_a: EFO:0005545 {source="DC-OMIM:607906"} ! congenital disorder of glycosylation type I is_a: MONDO:0017740 {source="Orphanet:79326"} ! disorder of protein N-glycosylation relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch DOID:0080561 property_value: exactMatch https://omim.org/entry/607906 property_value: exactMatch Orphanet:79326 [Term] id: MONDO:0011934 name: dermatofibrosarcoma protuberans def: "Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22)." [Orphanet:31112] subset: gard_rare {source="GARD:0009569"} subset: ordo_disease {source="Orphanet:31112"} synonym: "dermatofibrosarcoma" EXACT [NCIT:C4683] synonym: "dermatofibrosarcoma protuberans" EXACT [MONDO:Lexical, OMIM:607907] synonym: "DFSP" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607907, Orphanet:31112] synonym: "familial dermatofibrosarcoma protuberans (subtype)" RELATED [GARD:0009569] synonym: "giant cell fibroblastoma" RELATED [OMIM:607907] synonym: "metastatic dermatofibrosarcoma protuberans (subtype)" RELATED [GARD:0009569] xref: DOID:3507 {source="MONDO:equivalentTo"} xref: ICDO:8832/3 {source="NCIT:C4683"} xref: MedDRA:10057070 {source="Orphanet:31112", source="Orphanet:31112/e"} xref: MESH:D018223 {source="MONDO:equivalentTo", source="DOID:3507"} xref: NCIT:C4683 {source="MONDO:equivalentTo"} xref: OMIM:607907 {source="Orphanet:31112", source="MONDO:equivalentTo", source="Orphanet:31112/e"} xref: ONCOTREE:DFSP {source="MONDO:equivalentTo"} xref: Orphanet:31112 {source="MONDO:equivalentTo", source="OMIM:607907"} xref: SCTID:276799004 {source="MONDO:equivalentTo", source="DOID:3507"} xref: UMLS:C0392784 {source="Orphanet:31112", source="NCIT:C4683", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:31112/e", source="OMIM:607907"} is_a: EFO:0002087 {source="DOID:3507"} ! fibrosarcoma is_a: EFO:1000531 ! Skin Sarcoma is_a: MONDO:0015950 {source="Orphanet:31112"} ! inherited skin tumor is_a: MONDO:0017127 {source="MONDO:Redundant", source="Orphanet:31112"} ! inherited soft tissue tumor is_a: MONDO:0023603 ! hereditary disorder of connective tissue property_value: closeMatch http://identifiers.org/meddra/10057070 property_value: exactMatch DOID:3507 property_value: exactMatch http://identifiers.org/mesh/D018223 property_value: exactMatch http://identifiers.org/snomedct/276799004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0392784 property_value: exactMatch https://omim.org/entry/607907 property_value: exactMatch NCIT:C4683 property_value: exactMatch Orphanet:31112 property_value: excluded_subClassOf MONDO:0019300 {source="Orphanet:31112"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9569/dermatofibrosarcoma-protuberans xsd:anyURI {source="GARD:0009569"} [Term] id: MONDO:0011936 name: microphthalmia with brain and digit anomalies def: "Microphthalmia with brain and digit anomalies is characterized by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development." [Orphanet:139471] subset: ordo_malformation_syndrome {source="Orphanet:139471"} synonym: "anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia" RELATED [GARD:0003645] synonym: "anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia" RELATED [OMIM:607932] synonym: "Bakrania-Ragge syndrome" EXACT [Orphanet:139471] synonym: "MCOPS6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607932, Orphanet:139471] synonym: "microphthalmia and pituitary anomalies" RELATED [OMIM:607932] synonym: "microphthalmia syndromic 6" RELATED [GARD:0003645] synonym: "microphthalmia with brain and digit anomalies" EXACT [] synonym: "microphthalmia with brain and digit developmental anomalies" RELATED [OMIM:607932] synonym: "microphthalmia, syndromic 6" RELATED [MONDO:Lexical, OMIM:607932] synonym: "microphthalmia, syndromic type 6" EXACT [MONDORULE:1, OMIM:607932] synonym: "syndromic microphthalmia type 6" EXACT [Orphanet:139471] xref: DOID:0111805 {source="MONDO:equivalentTo"} xref: MESH:C566440 {source="MONDO:equivalentTo"} xref: OMIM:607932 {source="MONDO:equivalentTo", source="Orphanet:139471", source="Orphanet:139471/e"} xref: Orphanet:139471 {source="OMIM:607932", source="MONDO:equivalentTo"} xref: SCTID:721878003 {source="MONDO:equivalentTo"} xref: UMLS:C1864689 {source="OMIM:607932", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:139471"} xref: UMLS:C4303070 {source="MONDO:equivalentTo"} is_a: MONDO:0016073 {source="DC-OMIM:607932", source="OMIM:607932", source="Orphanet:139471"} ! syndromic microphthalmia property_value: exactMatch DOID:0111805 property_value: exactMatch http://identifiers.org/mesh/C566440 property_value: exactMatch http://identifiers.org/snomedct/721878003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864689 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303070 property_value: exactMatch https://omim.org/entry/607932 property_value: exactMatch Orphanet:139471 [Term] id: MONDO:0011939 name: Spondyloenchondrodysplasia with immune dysregulation subset: gard_rare {source="GARD:0004978"} subset: ordo_malformation_syndrome {source="Orphanet:1855"} synonym: "combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia" EXACT [OMIM:607944] synonym: "Roifman Immunoskeletal syndrome" EXACT [OMIM:607944] synonym: "SEM" RELATED ABBREVIATION [GARD:0004978] synonym: "SPENCD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:271550, Orphanet:1855] synonym: "SPENCDI" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607944] synonym: "spondyloenchondrodysplasia" EXACT [MONDO:0010071, MONDO:Lexical, OMIM:271550] synonym: "Spondyloenchondrodysplasia with immune dysregulation" EXACT [] synonym: "spondyloenchondrodysplasia with immune dysregulation" EXACT [MONDO:Lexical, OMIM:607944] synonym: "spondyloenchondromatosis" EXACT [OMIM:271550, Orphanet:1855] synonym: "spondylometaphyseal dysplasia with combined immunodeficiency" EXACT [Orphanet:50816] synonym: "spondylometaphyseal dysplasia with enchondromatous changes" EXACT [OMIM:271550, Orphanet:1855] xref: EFO:0002326 {source="MONDO:equivalentTo"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535782 {source="MONDO:relatedTo", source="Orphanet:1855", source="Orphanet:1855/e"} xref: MESH:C564307 {source="MONDO:equivalentTo"} xref: OMIM:271550 {source="MONDO:equivalentObsolete", source="Orphanet:1855", source="Orphanet:1855/e"} xref: OMIM:607944 {source="MONDO:equivalentTo"} xref: Orphanet:1855 {source="MONDO:equivalentTo", source="OMIM:271550"} xref: Orphanet:50816 {source="OMIM:607944", source="MONDO:equivalentObsolete"} xref: SCTID:254079002 {source="MONDO:relatedTo"} xref: SCTID:703523004 {source="MONDO:equivalentTo"} xref: UMLS:C0432222 {source="MONDO:relatedTo", source="Orphanet:1855", source="OMIM:271550", source="Orphanet:1855/e"} xref: UMLS:C1842763 {source="OMIM:607944", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0016763 {source="OMIM:607944", source="Orphanet:1855", source="PMID:31633310"} ! spondylometaphyseal dysplasia is_a: MONDO:0018782 {source="Orphanet:1855"} ! type 1 interferonopathy is_a: MONDO:0023603 ! hereditary disorder of connective tissue property_value: exactMatch http://identifiers.org/mesh/C564307 property_value: exactMatch http://identifiers.org/snomedct/703523004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842763 property_value: exactMatch https://omim.org/entry/607944 property_value: exactMatch Orphanet:1855 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: relatedMatch http://identifiers.org/mesh/C535782 property_value: relatedMatch http://identifiers.org/snomedct/254079002 property_value: relatedMatch http://linkedlifedata.com/resource/umls/id/C0432222 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4978/spondyloenchondrodysplasia xsd:anyURI {source="GARD:0004978"} [Term] id: MONDO:0011945 name: Gaucher disease perinatal lethal def: "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." [Orphanet:85212] subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:85212"} synonym: "fetal Gaucher disease" EXACT [DOID:0110960] synonym: "foetal Gaucher disease" EXACT OMO:0003005 [] synonym: "Gaucher disease collodion type" EXACT [GARD:0010675] synonym: "Gaucher disease perinatal lethal" EXACT [GARD:0010675] synonym: "Gaucher disease, collodion type" EXACT [DOID:0110960, OMIM:608013] synonym: "Gaucher disease, perinatal lethal" EXACT [OMIM:608013] synonym: "Gaucher disease, perinatal-lethal form" EXACT [GARD:0010675] synonym: "Gaucher's disease perinatal lethal" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] synonym: "perinatal lethal Gaucher disease" EXACT [GARD:0010675, Orphanet:85212] xref: DOID:0110960 {source="MONDO:equivalentTo"} xref: MESH:C564306 {source="MONDO:equivalentTo"} xref: OMIM:608013 {source="Orphanet:85212", source="MONDO:equivalentTo", source="GARD:0010675", source="Orphanet:85212/e", source="DOID:0110960"} xref: Orphanet:85212 {source="MONDO:equivalentTo", source="GARD:0010675", source="OMIM:608013", source="DOID:0110960"} xref: UMLS:C1842704 {source="Orphanet:85212", source="MONDO:equivalentTo", source="GARD:0010675", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608013"} is_a: MONDO:0015905 ! syndromic dyslipidemia is_a: MONDO:0017270 ! autosomal ichthyosis syndrome is_a: MONDO:0018150 {source="DC-OMIM:608013", source="DOID:0110960", source="MESH:C564306", source="Orphanet:85212"} ! Gaucher disease property_value: exactMatch DOID:0110960 property_value: exactMatch http://identifiers.org/mesh/C564306 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842704 property_value: exactMatch https://omim.org/entry/608013 property_value: exactMatch Orphanet:85212 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10675/gaucher-disease-perinatal-lethal xsd:anyURI {source="GARD:0010675"} [Term] id: MONDO:0011946 name: diaphanospondylodysostosis def: "Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate." [Orphanet:66637] subset: ordo_malformation_syndrome {source="Orphanet:66637"} synonym: "diaphanospondylodysostosis" EXACT [OMIM:608022] synonym: "vertebral ossification, defect in, with nephrogenic rests" EXACT [OMIM:608022] xref: MESH:C564305 {source="MONDO:equivalentTo"} xref: OMIM:608022 {source="MONDO:equivalentTo", source="Orphanet:66637", source="Orphanet:66637/e"} xref: Orphanet:66637 {source="MONDO:equivalentTo", source="OMIM:608022"} xref: SCTID:721094006 {source="MONDO:equivalentTo"} xref: UMLS:C1842691 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:66637", source="OMIM:608022"} is_a: MONDO:0019694 {source="Orphanet:66637"} ! spondylodysplastic dysplasia is_a: MONDO:0800075 {source="PMID:31633310"} ! dysostosis with predominant vertebral with and without costal involvement property_value: exactMatch http://identifiers.org/mesh/C564305 property_value: exactMatch http://identifiers.org/snomedct/721094006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842691 property_value: exactMatch https://omim.org/entry/608022 property_value: exactMatch Orphanet:66637 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0011948 name: pontocerebellar hypoplasia type 3 def: "Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3." [Orphanet:97249] subset: gard_rare {source="GARD:0010708"} subset: ordo_malformation_syndrome {source="Orphanet:97249"} synonym: "cerebellar atrophy with progressive microcephaly" EXACT [OMIM:608027, Orphanet:97249] synonym: "clam" EXACT [Orphanet:97249] synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in PCLO" EXACT [MONDO:design_pattern] synonym: "PCH with optic atrophy" EXACT [Orphanet:97249] synonym: "Pch with optic atrophy" RELATED [OMIM:608027] synonym: "PCH without dyskinesia" EXACT [Orphanet:97249] synonym: "PCH3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608027, Orphanet:97249] synonym: "PCLO non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "pontocerebellar hypoplasia, type 3" RELATED [MONDO:Lexical, OMIM:608027] xref: DOID:0060272 {source="MONDO:equivalentTo"} xref: MESH:C548072 {source="Orphanet:97249", source="MONDO:equivalentTo", source="Orphanet:97249/e", source="DOID:0060272"} xref: OMIM:608027 {source="Orphanet:97249", source="MONDO:equivalentTo", source="Orphanet:97249/e", source="DOID:0060272"} xref: Orphanet:97249 {source="MONDO:equivalentTo", source="DOID:0060272", source="OMIM:608027"} xref: SCTID:718609003 {source="MONDO:equivalentTo"} xref: UMLS:C1842687 {source="Orphanet:97249", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:97249/e", source="DOID:0060272", source="OMIM:608027"} is_a: MONDO:0020135 {source="DC-OMIM:608027", source="DOID:0060272", source="MONDO:Redundant", source="OMIM:608027", source="Orphanet:97249"} ! pontocerebellar hypoplasia property_value: exactMatch DOID:0060272 property_value: exactMatch http://identifiers.org/mesh/C548072 property_value: exactMatch http://identifiers.org/snomedct/718609003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842687 property_value: exactMatch https://omim.org/entry/608027 property_value: exactMatch Orphanet:97249 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10708/pontocerebellar-hypoplasia-type-3 xsd:anyURI {source="GARD:0010708"} [Term] id: MONDO:0011950 name: infantile-onset autosomal recessive nonprogressive cerebellar ataxia subset: ordo_disease {source="Orphanet:284332"} synonym: "autosomal recessive spinocerebellar ataxia type 6" EXACT [Orphanet:284332] synonym: "cerebellar ataxia infantile nonprogressive autosomal recessive" RELATED [GARD:0004954] synonym: "cerebellar ataxia, infantile nonprogressive, autosomal recessive" RELATED [OMIM:608029] synonym: "Norwegian infantile onset ataxia" RELATED [OMIM:608029] synonym: "SCAR6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608029, Orphanet:284332] synonym: "spinocerebellar ataxia autosomal recessive 6" RELATED [GARD:0004954] synonym: "spinocerebellar ataxia, autosomal recessive 6" RELATED [MONDO:Lexical, OMIM:608029] xref: DOID:0111617 {source="MONDO:equivalentTo"} xref: MESH:C537312 {source="MONDO:equivalentTo"} xref: OMIM:608029 {source="MONDO:equivalentTo", source="Orphanet:284332", source="Orphanet:284332/e"} xref: Orphanet:284332 {source="OMIM:608029", source="MONDO:equivalentTo"} xref: UMLS:C1842676 {source="OMIM:608029", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:284332"} is_a: MONDO:0015244 {source="Orphanet:284332"} ! autosomal recessive cerebellar ataxia property_value: exactMatch DOID:0111617 property_value: exactMatch http://identifiers.org/mesh/C537312 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842676 property_value: exactMatch https://omim.org/entry/608029 property_value: exactMatch Orphanet:284332 [Term] id: MONDO:0011953 name: familial acute necrotizing encephalopathy def: "Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterized by neuropathological lesions principally involving the brainstem, thalamus and putamen." [Orphanet:88619] subset: ordo_disease {source="Orphanet:88619"} subset: predisposition synonym: "acute necrotizing encephalopathy type 1" RELATED [GARD:0013232] synonym: "ADANE" EXACT ABBREVIATION [Orphanet:88619] synonym: "ANE1" RELATED ABBREVIATION [GARD:0013232] synonym: "autosomal dominant acute necrotizing encephalopathy" RELATED [GARD:0013232] synonym: "encephalopathy, acute necrotizing, susceptibility to" RELATED [OMIM:608033] synonym: "encephalopathy, acute, infection-induced, 3, susceptibility to" EXACT [OMIM:608033, OMIM:genemap2] synonym: "encephalopathy, acute, infection-induced, susceptibility to, 3" RELATED [MONDO:Lexical, OMIM:608033] synonym: "encephalopathy, acute, infection-induced, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:608033] synonym: "IIAE3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608033] synonym: "infection-induced acute encephalopathy 3" RELATED [GARD:0013232] synonym: "Postinfectious acute necrotizing hemorrhagic encephalopathy" RELATED [GARD:0013232] synonym: "recurrent acute necrotizing encephalopathy" EXACT [Orphanet:88619] synonym: "susceptibility to acute infection-induced encephalopathy-3" RELATED [GARD:0013232] synonym: "susceptibility to acute necrotizing encephalopathy" RELATED [GARD:0013232] synonym: "susceptibility to infection-induced acute encephalopathy 3" RELATED [GARD:0013232] xref: OMIM:608033 {source="Orphanet:88619/e", source="MONDO:equivalentTo", source="Orphanet:88619"} xref: Orphanet:88619 {source="MONDO:equivalentTo", source="OMIM:608033"} xref: SCTID:723359002 {source="MONDO:equivalentTo"} xref: UMLS:C4509836 {source="MONDO:equivalentTo"} is_a: MONDO:0000166 {source="DC-OMIM:608033", source="OMIM:608033"} ! encephalopathy, acute, infection-induced is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy property_value: exactMatch http://identifiers.org/snomedct/723359002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4509836 property_value: exactMatch https://omim.org/entry/608033 property_value: exactMatch Orphanet:88619 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4882 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5671 xsd:anyURI [Term] id: MONDO:0011957 name: retinal macular dystrophy type 2 def: "Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages." [Orphanet:319640] subset: ordo_disease {source="Orphanet:319640"} synonym: "macular dystrophy, retinal, 2" RELATED [MONDO:Lexical, OMIM:608051] synonym: "macular dystrophy, retinal, type 2" EXACT [MONDORULE:1, OMIM:608051] synonym: "MCDR2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608051, Orphanet:319640] xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:319640", source="Orphanet:319640/attributed", source="Orphanet:319640/ntbt"} xref: MESH:C562746 {source="MONDO:equivalentTo"} xref: OMIM:608051 {source="MONDO:equivalentTo", source="Orphanet:319640", source="Orphanet:319640/e"} xref: Orphanet:319640 {source="OMIM:608051", source="MONDO:equivalentTo"} is_a: MONDO:0031166 {source="OMIM:608051"} ! macular dystrophy, retinal property_value: exactMatch http://identifiers.org/mesh/C562746 property_value: exactMatch https://omim.org/entry/608051 property_value: exactMatch Orphanet:319640 [Term] id: MONDO:0011959 name: sweet syndrome def: "Sweet's syndrome (the eponym for acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions (papules, nodules, and plaques), and a diffuse infiltrate consisting predominantly of mature neutrophils that are typically located in the upper dermis." [Orphanet:3243] subset: ordo_disease {source="Orphanet:3243"} synonym: "acute febrile neutrophilic dermatosis" EXACT [Orphanet:3243] synonym: "Afnd" RELATED [OMIM:608068] synonym: "Gomm button disease" RELATED [GARD:0000521] synonym: "Gomm-button disease" RELATED [OMIM:608068] synonym: "neutrophilic dermatosis, acute febrile" RELATED [OMIM:608068] synonym: "sweet syndrome" EXACT [OMIM:608068] xref: DOID:0080746 {source="MONDO:equivalentTo"} xref: ICD9:702.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10000748 {source="Orphanet:3243", source="Orphanet:3243/e"} xref: MESH:D016463 {source="Orphanet:3243", source="MONDO:equivalentTo", source="Orphanet:3243/e"} xref: NCIT:C85177 {source="MONDO:equivalentTo"} xref: OMIM:608068 {source="Orphanet:3243", source="MONDO:equivalentTo", source="Orphanet:3243/e"} xref: Orphanet:3243 {source="MONDO:equivalentTo", source="OMIM:608068"} xref: SCTID:84625002 {source="MONDO:equivalentTo"} xref: UMLS:C0085077 {source="Orphanet:3243", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3243/e", source="OMIM:608068", source="NCIT:C85177"} is_a: EFO:0000701 {source="MONDO:0019546-obsoleted"} ! skin disease is_a: EFO:0005755 {source="Orphanet:3243"} ! rheumatic disease is_a: MONDO:0002254 {source="NCIT:C85177"} ! syndromic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015940"} ! rare property_value: closeMatch http://identifiers.org/meddra/10000748 property_value: exactMatch DOID:0080746 property_value: exactMatch http://identifiers.org/mesh/D016463 property_value: exactMatch http://identifiers.org/snomedct/84625002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085077 property_value: exactMatch https://omim.org/entry/608068 property_value: exactMatch NCIT:C85177 property_value: exactMatch Orphanet:3243 [Term] id: MONDO:0011961 name: hereditary sensory and autonomic neuropathy type 1B def: "Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR)." [Orphanet:139564] subset: ordo_disease {source="Orphanet:139564"} synonym: "hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux" EXACT [Orphanet:139564] synonym: "hereditary sensory and autonomic neuropathy type IB" EXACT [Orphanet:139564] synonym: "hereditary sensory neuropathy type 1B" RELATED [DOID:0070148] synonym: "hereditary sensory neuropathy type IB" EXACT [DOID:0070148] synonym: "HSAN with cough and gastroesophageal reflux" EXACT [DOID:0070148, Orphanet:139564] synonym: "HSAN1B" EXACT ABBREVIATION [Orphanet:139564] synonym: "neuropathy, hereditary sensory and autonomic, type 1B" RELATED [OMIM:608088] synonym: "neuropathy, hereditary sensory and autonomic, type I, with cough and gastroesophageal reflux" RELATED [OMIM:608088] synonym: "neuropathy, hereditary sensory, type 1B" RELATED [OMIM:608088] synonym: "neuropathy, hereditary sensory, type IB" EXACT [OMIM:608088, OMIM:genemap2] xref: DOID:0070148 {source="MONDO:equivalentTo"} xref: MESH:C564296 {source="MONDO:equivalentTo"} xref: OMIM:608088 {source="Orphanet:139564/e", source="DOID:0070148", source="MONDO:equivalentTo", source="Orphanet:139564"} xref: Orphanet:139564 {source="DOID:0070148", source="MONDO:equivalentTo", source="OMIM:608088"} xref: PMID:12870133 {source="DOID:0070148"} xref: PMID:16311270 {source="DOID:0070148"} xref: SCTID:717825008 {source="MONDO:equivalentTo"} xref: UMLS:C1842586 {source="DOID:0070148", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608088", source="Orphanet:139564"} xref: UMLS:C4303567 {source="MONDO:equivalentTo"} is_a: MONDO:0018213 {source="MONDO:cjm"} ! hereditary sensory and autonomic neuropathy type 1 property_value: exactMatch DOID:0070148 property_value: exactMatch http://identifiers.org/mesh/C564296 property_value: exactMatch http://identifiers.org/snomedct/717825008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842586 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303567 property_value: exactMatch https://omim.org/entry/608088 property_value: exactMatch Orphanet:139564 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011962 name: endometrial cancer def: "Primary or metastatic malignant neoplasm involving the endometrium (mucous membrane that lines the endometrial cavity)." [NCIT:C27815] synonym: "cancer of endometrium" EXACT [MONDO:patterns/cancer] synonym: "endometrial Ca" EXACT [DOID:1380] synonym: "endometrial cancer" EXACT [OMIM:608089] synonym: "endometrial cancer, familial, autosomal dominant, somatic mutation" EXACT [OMIM:608089, OMIM:genemap2] synonym: "endometrial cancer, susceptibility to, autosomal dominant, somatic mutation" EXACT [OMIM:608089, OMIM:genemap2] synonym: "endometrial carcinoma, somatic" EXACT [OMIM:608089, OMIM:genemap2] synonym: "endometrial neoplasm" BROAD [DOID:1380] synonym: "endometrium cancer" EXACT [MONDO:patterns/location] synonym: "malignant endometrial neoplasm" EXACT [DOID:1380, NCIT:C27815] synonym: "malignant endometrium neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of endometrium" EXACT [DOID:1380, MONDO:patterns/cancer] synonym: "neoplasm of endometrium" BROAD [DOID:1380] synonym: "primary malignant neoplasm of endometrium" EXACT [DOID:1380] synonym: "tumor of endometrium" BROAD [DOID:1380, NCIT:C3012] synonym: "tumour of endometrium" BROAD OMO:0003005 [] xref: DOID:1380 {source="MONDO:equivalentTo"} xref: EFO:0004230 {source="MONDO:equivalentTo", source="DOID:1380"} xref: NCIT:C27815 {source="MONDO:equivalentTo", source="DOID:1380"} xref: OMIM:608089 {source="MONDO:equivalentTo", source="DOID:1380"} is_a: MONDO:0002715 {source="DOID:1380", source="MONDO:Redundant", source="NCIT:C27815/inferred"} ! uterine cancer is_a: MONDO:0021251 {source="MONDO:Redundant", source="NCIT:C27815"} ! endometrium neoplasm property_value: exactMatch DOID:1380 property_value: exactMatch https://omim.org/entry/608089 property_value: exactMatch NCIT:C27815 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011964 name: DPAGT1-congenital disorder of glycosylation def: "DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3)." [Orphanet:86309] subset: ordo_disease {source="Orphanet:86309"} synonym: "carbohydrate deficient glycoprotein syndrome type Ij" EXACT [Orphanet:86309] synonym: "CDG 1J" RELATED [GARD:0009837] synonym: "CDG Ij" RELATED [OMIM:608093] synonym: "CDG syndrome type Ij" EXACT [Orphanet:86309] synonym: "CDG-Ij" EXACT [Orphanet:86309] synonym: "CDG1J" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608093, Orphanet:86309] synonym: "CDGIj" EXACT [NCIT:C126874] synonym: "congenital disorder of glycosylation type 1j" EXACT [Orphanet:86309] synonym: "congenital disorder of glycosylation type Ij" EXACT [Orphanet:86309] synonym: "congenital disorder of glycosylation, type Ij" RELATED [MONDO:Lexical, OMIM:608093] synonym: "dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency" EXACT [Orphanet:86309] synonym: "DPAGT1-CDG" EXACT ABBREVIATION [Orphanet:86309] synonym: "DPAGT1-CDG (CDG-Ij)" RELATED [GARD:0009837] synonym: "DPAGT1-congenital disorder of glycosylation" EXACT [] xref: DOID:0080562 {source="MONDO:equivalentTo"} xref: MESH:C535748 {source="MONDO:equivalentTo"} xref: NCIT:C126874 {source="MONDO:equivalentTo"} xref: OMIM:608093 {source="Orphanet:86309/e", source="MONDO:equivalentTo", source="Orphanet:86309"} xref: Orphanet:86309 {source="OMIM:608093", source="MONDO:equivalentTo"} xref: SCTID:725079003 {source="MONDO:equivalentTo"} xref: UMLS:C2931004 {source="OMIM:608093", source="MONDO:equivalentTo", source="NCIT:C126874", source="Orphanet:86309"} is_a: EFO:0005545 {source="DC-OMIM:608093"} ! congenital disorder of glycosylation type I is_a: MONDO:0017740 {source="Orphanet:86309"} ! disorder of protein N-glycosylation property_value: exactMatch DOID:0080562 property_value: exactMatch http://identifiers.org/mesh/C535748 property_value: exactMatch http://identifiers.org/snomedct/725079003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931004 property_value: exactMatch https://omim.org/entry/608093 property_value: exactMatch NCIT:C126874 property_value: exactMatch Orphanet:86309 [Term] id: MONDO:0011965 name: familial temporal lobe epilepsy 2 def: "A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has material basis in variation in the chromosome region 12q22-q23.3." [DOID:0060755, PMID:12011300, PMID:15342703] subset: ordo_disease {source="Orphanet:98819"} synonym: "epilepsy, familial temporal lobe" RELATED [GARD:0005135] synonym: "epilepsy, familial temporal lobe, 2" RELATED [MONDO:Lexical, OMIM:608096] synonym: "ETL2" EXACT ABBREVIATION [DOID:0060755, MONDO:Lexical, OMIM:608096] synonym: "familial temporal lobe epilepsy" RELATED [Orphanet:98819] synonym: "familial temporal lobe epilepsy type 2" EXACT [DOID:0060755, MONDORULE:1] synonym: "Ftle" RELATED [OMIM:608096] synonym: "temporal epilepsy, familial" RELATED [GARD:0005135] xref: DOID:0060755 {source="MONDO:equivalentTo"} xref: MESH:C536956 {source="Orphanet:98819/e", source="MONDO:equivalentTo", source="Orphanet:98819"} xref: OMIM:608096 {source="Orphanet:98819/e", source="MONDO:equivalentTo", source="DOID:0060755", source="Orphanet:98819"} xref: Orphanet:98819 {source="MONDO:equivalentTo", source="OMIM:608096", source="DOID:0060755"} is_a: EFO:0000773 {source="DC-OMIM:608096", source="DOID:0060755", source="MESH:C536956", source="OMIM:608096"} ! temporal lobe epilepsy property_value: exactMatch DOID:0060755 property_value: exactMatch http://identifiers.org/mesh/C536956 property_value: exactMatch https://omim.org/entry/608096 property_value: exactMatch Orphanet:98819 [Term] id: MONDO:0011968 name: autosomal recessive limb-girdle muscular dystrophy type 2D def: "Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare." [Orphanet:62] subset: ordo_disease {source="Orphanet:62"} synonym: "Adhalinopathy, primary" RELATED [OMIM:608099] synonym: "Alpha-sarcoglycanopathy" EXACT [DOID:0110278, Orphanet:62] synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCA" EXACT [MONDO:design_pattern] synonym: "DMDA2" EXACT ABBREVIATION [DOID:0110278] synonym: "Duchenne-like autosomal recessive muscular dystrophy type 2" EXACT [DOID:0110278] synonym: "Duchenne-like autosomal recessive muscular dystrophy, type 2" RELATED [OMIM:608099] synonym: "LGMD2D" EXACT ABBREVIATION [DOID:0110278, MONDO:Lexical, OMIM:608099, Orphanet:62] synonym: "limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency" EXACT [Orphanet:62] synonym: "limb-girdle muscular dystrophy type 2D" EXACT [NCIT:C142081] synonym: "limb-girdle muscular dystrophy, type 2D" RELATED [GARD:0000438] synonym: "muscular dystrophy limb-girdle with alpha-sarcoglycan" RELATED [GARD:0000438] synonym: "muscular dystrophy, limb-girdle, autosomal recessive 3" EXACT [OMIM:608099, OMIM:genemap2] synonym: "muscular dystrophy, limb-girdle, type 2D" EXACT [DOID:0110278, MONDO:Lexical, OMIM:608099] synonym: "primary adhalinopathy" EXACT [DOID:0110278] synonym: "SGCA autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110278 {source="MONDO:equivalentTo"} xref: NCIT:C142081 {source="MONDO:equivalentTo"} xref: OMIM:608099 {source="Orphanet:62/e", source="MONDO:equivalentTo", source="DOID:0110278", source="Orphanet:62"} xref: Orphanet:62 {source="MONDO:equivalentTo", source="OMIM:608099", source="DOID:0110278"} xref: SCTID:715340002 {source="MONDO:equivalentTo"} is_a: MONDO:0015152 {source="DOID:0110278", source="MONDO:Redundant", source="OMIM:608099", source="Orphanet:62"} ! autosomal recessive limb-girdle muscular dystrophy is_a: MONDO:0016141 {source="Orphanet:207060"} ! qualitative or quantitative defects of alpha-sarcoglycan is_a: MONDO:0016333 ! familial dilated cardiomyopathy property_value: exactMatch DOID:0110278 property_value: exactMatch http://identifiers.org/snomedct/715340002 property_value: exactMatch https://omim.org/entry/608099 property_value: exactMatch NCIT:C142081 property_value: exactMatch Orphanet:62 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011969 name: ALG8-congenital disorder of glycosylation def: "A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation." [Orphanet:79325] subset: ordo_disease {source="Orphanet:79325"} synonym: "ALG8-CDG" EXACT ABBREVIATION [Orphanet:79325] synonym: "ALG8-CDG (CDG-Ih)" RELATED [GARD:0009834] synonym: "ALG8-congenital disorder of glycosylation" EXACT [] synonym: "carbohydrate deficient glycoprotein syndrome type Ih" EXACT [Orphanet:79325] synonym: "CDG 1H" RELATED [GARD:0009834] synonym: "CDG Ih" RELATED [OMIM:608104] synonym: "CDG syndrome type Ih" EXACT [Orphanet:79325] synonym: "CDG-Ih" EXACT [Orphanet:79325] synonym: "CDG1H" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608104, Orphanet:79325] synonym: "congenital disorder of glycosylation type 1h" EXACT [Orphanet:79325] synonym: "congenital disorder of glycosylation type Ih" EXACT [Orphanet:79325] synonym: "congenital disorder of glycosylation, type Ih" RELATED [MONDO:Lexical, OMIM:608104] synonym: "glucosyltransferase 2 deficiency" EXACT [Orphanet:79325] xref: DOID:0080560 {source="MONDO:equivalentTo"} xref: MESH:C535746 {source="MONDO:equivalentTo"} xref: OMIM:608104 {source="Orphanet:79325", source="MONDO:equivalentTo", source="Orphanet:79325/e"} xref: Orphanet:79325 {source="MONDO:equivalentTo", source="OMIM:608104"} xref: SCTID:720977000 {source="MONDO:equivalentTo"} xref: UMLS:C2931002 {source="Orphanet:79325", source="MONDO:equivalentTo", source="OMIM:608104"} is_a: EFO:0005545 {source="DC-OMIM:608104"} ! congenital disorder of glycosylation type I is_a: MONDO:0017740 {source="Orphanet:79325"} ! disorder of protein N-glycosylation relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch DOID:0080560 property_value: exactMatch http://identifiers.org/mesh/C535746 property_value: exactMatch http://identifiers.org/snomedct/720977000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931002 property_value: exactMatch https://omim.org/entry/608104 property_value: exactMatch Orphanet:79325 property_value: excluded_subClassOf MONDO:0019743 {source="MONDO:0018294-obsoleted"} [Term] id: MONDO:0011970 name: rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome subset: ordo_disease {source="Orphanet:163727"} synonym: "epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp" EXACT [OMIM:608105, OMIM:genemap2] synonym: "epilepsy, ROLANDIC, with paroxysmal exercise-induced dystonia and writer'S cramp" RELATED [MONDO:Lexical, OMIM:608105] synonym: "EPRPDC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608105] synonym: "Re-ped-Wc" RELATED [OMIM:608105] xref: DOID:0111645 {source="MONDO:equivalentTo"} xref: MESH:C535499 {source="Orphanet:163727", source="MONDO:equivalentTo", source="Orphanet:163727/e"} xref: OMIM:608105 {source="Orphanet:163727", source="MONDO:equivalentTo", source="Orphanet:163727/e"} xref: Orphanet:163727 {source="MONDO:equivalentTo", source="OMIM:608105"} xref: UMLS:C1842531 {source="Orphanet:163727", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:163727/e", source="OMIM:608105"} is_a: MONDO:0020072 {source="Orphanet:163727"} ! childhood-onset epilepsy syndrome property_value: exactMatch DOID:0111645 property_value: exactMatch http://identifiers.org/mesh/C535499 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842531 property_value: exactMatch https://omim.org/entry/608105 property_value: exactMatch Orphanet:163727 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011971 name: hyper-IgM syndrome type 5 def: "Any hyper-IgM syndrome in which the cause of the disease is a mutation in the UNG gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0010581"} subset: ordo_clinical_subtype {source="Orphanet:101092"} synonym: "HIGM5" EXACT ABBREVIATION [DOID:0060759, MONDO:Lexical, OMIM:608106, Orphanet:101092] synonym: "hyper IgM syndrome 5" RELATED [GARD:0010581] synonym: "hyper-IgM syndrome 5" EXACT [DOID:0060759, OMIM:608106] synonym: "hyper-IgM syndrome caused by mutation in UNG" EXACT [MONDO:design_pattern] synonym: "hyper-IgM syndrome due to UNG deficiency" EXACT [DOID:0060759, Orphanet:101092] synonym: "hyper-IgM syndrome due to uracil N-glycosylase" EXACT [DOID:0060759, Orphanet:101092] synonym: "hyper-IgM syndrome type 5" EXACT [] synonym: "immunodeficiency with hyper IgM type 5" RELATED [DOID:0060759] synonym: "immunodeficiency with hyper IgM, type 5" EXACT [OMIM:608106, OMIM:genemap2] synonym: "immunodeficiency with hyper-IgM, type 5" RELATED [MONDO:Lexical, OMIM:608106] synonym: "UNG hyper-IgM syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060759 {source="MONDO:equivalentTo"} xref: OMIM:608106 {source="MONDO:equivalentTo", source="Orphanet:101092", source="DOID:0060759", source="Orphanet:101092/e"} xref: Orphanet:101092 {source="OMIM:608106", source="MONDO:equivalentTo", source="DOID:0060759"} is_a: MONDO:0015976 {source="Orphanet:101092"} ! hyper-IgM syndrome without susceptibility to opportunistic infections property_value: exactMatch DOID:0060759 property_value: exactMatch https://omim.org/entry/608106 property_value: exactMatch Orphanet:101092 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10581/immunodeficiency-with-hyper-igm-type-5 xsd:anyURI {source="GARD:0010581"} [Term] id: MONDO:0011972 name: ovarian hyperstimulation syndrome def: "A complication of ovulation induction in infertility treatment. It is graded by the severity of symptoms which include ovary enlargement, multiple ovarian follicles; ovarian cysts; ascites; and generalized edema. The full-blown syndrome may lead to renal failure, respiratory distress, and even death. Increased capillary permeability is caused by the vasoactive substances, such as vascular endothelial growth factors, secreted by the overly-stimulated ovaries." [MESH:D016471] subset: ordo_disease {source="Orphanet:64739"} synonym: "OHSS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608115, Orphanet:64739] synonym: "ovarian hyperstimulation syndrome" EXACT [MONDO:Lexical, OMIM:608115] synonym: "ovarian hyperstimulation syndrome, familial gestational spontaneous" RELATED [OMIM:608115] synonym: "secondary Meig's syndrome" EXACT [DOID:5425] xref: DOID:5425 {source="MONDO:equivalentTo"} xref: ICD9:256.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10033266 {source="Orphanet:64739/e", source="Orphanet:64739"} xref: MESH:D016471 {source="Orphanet:64739/e", source="DOID:5425", source="MONDO:equivalentTo", source="Orphanet:64739"} xref: OMIM:608115 {source="Orphanet:64739/e", source="DOID:5425", source="MONDO:equivalentTo", source="Orphanet:64739"} xref: Orphanet:64739 {source="MONDO:equivalentTo", source="OMIM:608115"} xref: SCTID:129635004 {source="DOID:5425", source="MONDO:equivalentTo"} xref: UMLS:C0085083 {source="Orphanet:64739/e", source="DOID:5425", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:64739", source="OMIM:608115"} is_a: EFO:0005771 {source="DOID:5425", source="MESH:D016471"} ! ovarian disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015980"} ! rare property_value: closeMatch http://identifiers.org/meddra/10033266 property_value: exactMatch DOID:5425 property_value: exactMatch http://identifiers.org/mesh/D016471 property_value: exactMatch http://identifiers.org/snomedct/129635004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085083 property_value: exactMatch https://omim.org/entry/608115 property_value: exactMatch Orphanet:64739 [Term] id: MONDO:0011973 name: zinc deficiency, transient neonatal synonym: "TNZD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608118] synonym: "zinc deficiency, neonatal, due to Low breast milk zinc" RELATED [OMIM:608118] synonym: "zinc deficiency, transient neonatal" EXACT [MONDO:Lexical, OMIM:608118] synonym: "zinc in breast milk, reduced" RELATED [OMIM:608118] xref: MESH:C564286 {source="MONDO:equivalentTo"} xref: OMIM:608118 {source="MONDO:equivalentTo"} xref: UMLS:C1842486 {source="OMIM:608118", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C564286 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842486 property_value: exactMatch https://omim.org/entry/608118 [Term] id: MONDO:0011975 name: paternal uniparental disomy of chromosome 14 subset: gard_rare {source="GARD:0005409"} subset: ordo_etiological_subtype {source="Orphanet:96334"} synonym: "KAGAMI-Ogata syndrome" RELATED [OMIM:608149] synonym: "paternal uniparental disomy 14" RELATED [GARD:0005409] synonym: "paternal uniparental disomy of chromosome 14" EXACT [] synonym: "paternal uniparental disomy of chromosome type 14" EXACT [MONDORULE:2, Orphanet:96334] synonym: "uniparental disomy, paternal, chromosome 14" RELATED [OMIM:608149] synonym: "UPD(14)pat" EXACT [Orphanet:96334] xref: MESH:C536471 {source="Orphanet:96334", source="MONDO:equivalentTo", source="Orphanet:96334/e"} xref: OMIM:608149 {source="MONDO:equivalentTo"} xref: Orphanet:96334 {source="MONDO:equivalentTo"} xref: UMLS:C1842466 {source="Orphanet:96334", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:96334/e", source="OMIM:608149"} is_a: MONDO:0016779 {source="Orphanet:96334"} ! multiple congenital anomalies due to 14q32.2 maternally expressed gene defect is_a: MONDO:0700021 ! chromosome 14 disorder is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy property_value: exactMatch http://identifiers.org/mesh/C536471 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842466 property_value: exactMatch https://omim.org/entry/608149 property_value: exactMatch Orphanet:96334 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5409/uniparental-disomy-paternal-chromosome-14 xsd:anyURI {source="GARD:0005409"} [Term] id: MONDO:0011976 name: lipodystrophy-intellectual disability-deafness syndrome def: "Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." [Orphanet:50811] subset: ordo_disease {source="Orphanet:50811"} synonym: "lipodystrophy, generalized, with intellectual disability, deafness, short stature, and slender bones" RELATED [OMIM:608154] synonym: "lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones" RELATED DEPRECATED [OMIM:608154] synonym: "Rajab-Spranger syndrome" EXACT [Orphanet:50811] xref: MESH:C564283 {source="MONDO:equivalentTo"} xref: OMIM:608154 {source="MONDO:equivalentTo", source="Orphanet:50811", source="Orphanet:50811/e"} xref: Orphanet:50811 {source="MONDO:equivalentTo", source="OMIM:608154"} xref: SCTID:721973006 {source="MONDO:equivalentTo"} is_a: MONDO:0020087 {source="Orphanet:50811"} ! hereditary lipodystrophy property_value: exactMatch http://identifiers.org/mesh/C564283 property_value: exactMatch http://identifiers.org/snomedct/721973006 property_value: exactMatch https://omim.org/entry/608154 property_value: exactMatch Orphanet:50811 property_value: excluded_subClassOf MONDO:0015333 {source="Orphanet:50811"} property_value: excluded_subClassOf MONDO:0019705 {source="Orphanet:50811"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1567 xsd:anyURI [Term] id: MONDO:0011977 name: 8q22.1 microdeletion syndrome def: "The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance." [Orphanet:178303] subset: ordo_malformation_syndrome {source="Orphanet:178303"} synonym: "chromosome 8Q22.1 deletion syndrome" RELATED [OMIM:608156] synonym: "monosomy 8q22.1" EXACT [Orphanet:178303] synonym: "NABLUS mask-like facial syndrome" RELATED [MONDO:Lexical, OMIM:608156] synonym: "Nablus mask-like facial syndrome" EXACT [Orphanet:178303] synonym: "NMLFS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608156] xref: MESH:C536110 {source="MONDO:equivalentTo"} xref: OMIM:608156 {source="MONDO:equivalentTo", source="Orphanet:178303", source="Orphanet:178303/e"} xref: Orphanet:178303 {source="MONDO:equivalentTo", source="OMIM:608156"} xref: SCTID:719664004 {source="MONDO:equivalentTo"} xref: UMLS:C1842464 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:178303", source="OMIM:608156"} is_a: MONDO:0015161 {source="Orphanet:178303"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0016907 {source="Orphanet:178303"} ! partial deletion of the long arm of chromosome 8 property_value: exactMatch http://identifiers.org/mesh/C536110 property_value: exactMatch http://identifiers.org/snomedct/719664004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842464 property_value: exactMatch https://omim.org/entry/608156 property_value: exactMatch Orphanet:178303 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0011979 name: adult-onset foveomacular vitelliform dystrophy def: "Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region." [Orphanet:99000] subset: ordo_disease {source="Orphanet:99000"} synonym: "adult-onset foveomacular dystrophy" EXACT [Orphanet:99000] synonym: "adult-onset foveomacular dystrophy with choroidal neovascularization" EXACT [Orphanet:99000] synonym: "adult-onset vitelliform macular dystrophy" EXACT [Orphanet:99000] synonym: "AOFMD" EXACT ABBREVIATION [Orphanet:99000] synonym: "AVMD" EXACT ABBREVIATION [Orphanet:99000] synonym: "foveomacular dystrophy, adult-onset, with choroidal neovascularization" RELATED [GARD:0010909] synonym: "foveomacular dystrophy, adult-onset; AOFMD" RELATED [GARD:0010909] synonym: "Gass disease" EXACT [Orphanet:99000] synonym: "macular dystrophy, vitelliform, 3" RELATED [MONDO:Lexical, OMIM:608161] synonym: "macular dystrophy, vitelliform, adult-onset" RELATED [GARD:0010909] synonym: "macular dystrophy, vitelliform, type 3" EXACT [MONDORULE:1, OMIM:608161] synonym: "pseudo-Best disease" EXACT [Orphanet:99000] synonym: "pseudo-vitelliform macular dystrophy" EXACT [Orphanet:99000] synonym: "VMD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608161] xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:99000/attributed", source="Orphanet:99000/ntbt", source="Orphanet:99000"} xref: Orphanet:99000 {source="OMIM:608161", source="MONDO:equivalentTo"} xref: SCTID:232049001 {source="MONDO:equivalentTo"} xref: UMLS:C1842914 {source="MONDO:equivalentTo"} is_a: MONDO:0000390 {source="DC-OMIM:608161", source="OMIM:608161"} ! vitelliform macular dystrophy property_value: exactMatch http://identifiers.org/snomedct/232049001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842914 property_value: exactMatch Orphanet:99000 [Term] id: MONDO:0011984 name: synpolydactyly type 2 def: "Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the FBLN1 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_clinical_subtype {source="Orphanet:295197"} synonym: "FBLN1 non-syndromic synpolydactyly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "non-syndromic synpolydactyly caused by mutation in FBLN1" EXACT [MONDO:design_pattern] synonym: "SD2, Debeer type" EXACT [Orphanet:295197] synonym: "SD2b" EXACT [Orphanet:295197] synonym: "SPD, Debeer type" EXACT [Orphanet:295197] synonym: "SPD2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608180, Orphanet:295197] synonym: "synpolydactyly 2" RELATED [MONDO:Lexical, OMIM:608180] synonym: "synpolydactyly type 2" EXACT [MONDORULE:1, OMIM:608180] synonym: "synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses" EXACT [OMIM:608180, OMIM:genemap2] synonym: "synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses" RELATED [OMIM:608180] synonym: "synpolydactyly, Debeer type" EXACT [Orphanet:295197] xref: MESH:C564278 {source="MONDO:equivalentTo"} xref: OMIM:608180 {source="Orphanet:295197", source="MONDO:equivalentTo", source="Orphanet:295197/e"} xref: Orphanet:295197 {source="OMIM:608180", source="MONDO:equivalentTo"} xref: UMLS:C1842422 {source="Orphanet:295197", source="OMIM:608180", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000722 {source="DC-OMIM:608180", source="MONDO:Redundant"} ! non-syndromic synpolydactyly is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism property_value: exactMatch http://identifiers.org/mesh/C564278 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842422 property_value: exactMatch https://omim.org/entry/608180 property_value: exactMatch Orphanet:295197 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0011985 name: hyper-IgM syndrome type 4 def: "A form of Hyper IgM syndrome which is a defect in class switch recombination downstream of the AICDA gene that does not impair somatic hypermutation." [Wikipedia:Hyper-IgM_syndrome_type_4] subset: gard_rare {source="GARD:0010580"} subset: ordo_clinical_subtype {source="Orphanet:101091"} synonym: "HIGM4" EXACT ABBREVIATION [DOID:0060760, MONDO:Lexical, OMIM:608184, Orphanet:101091] synonym: "hyper IgM syndrome 4" RELATED [GARD:0010580] synonym: "hyper-IgM syndrome 4" RELATED [OMIM:608184] synonym: "hyper-IgM syndrome type 4" EXACT [DOID:0060760] synonym: "immunodeficiency with hyper IgM type 4" RELATED [GARD:0010580] synonym: "immunodeficiency with hyper-IgM type 4" RELATED [DOID:0060760] synonym: "immunodeficiency with hyper-IgM, type 4" RELATED [MONDO:Lexical, OMIM:608184] xref: DOID:0060760 {source="MONDO:equivalentTo"} xref: MESH:C564277 {source="MONDO:equivalentTo"} xref: OMIM:608184 {source="DOID:0060760", source="MONDO:equivalentTo", source="Orphanet:101091", source="Orphanet:101091/e"} xref: Orphanet:101091 {source="DOID:0060760", source="MONDO:equivalentTo", source="OMIM:608184"} xref: UMLS:C1842413 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608184", source="Orphanet:101091"} is_a: MONDO:0015976 {source="Orphanet:101091"} ! hyper-IgM syndrome without susceptibility to opportunistic infections property_value: exactMatch DOID:0060760 property_value: exactMatch http://identifiers.org/mesh/C564277 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842413 property_value: exactMatch https://omim.org/entry/608184 property_value: exactMatch Orphanet:101091 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10580/immunodeficiency-with-hyper-igm-type-4 xsd:anyURI {source="GARD:0010580"} [Term] id: MONDO:0011988 name: neutrophil immunodeficiency syndrome def: "A primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas." [Orphanet:183707] subset: ordo_disease {source="Orphanet:183707"} synonym: "immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis" EXACT [OMIM:608203, OMIM:genemap2] synonym: "neutrophil immunodeficiency syndrome" EXACT [OMIM:608203] xref: DOID:0112064 {source="MONDO:equivalentTo"} xref: MESH:C564275 {source="MONDO:equivalentTo"} xref: OMIM:608203 {source="Orphanet:183707", source="MONDO:equivalentTo", source="Orphanet:183707/e"} xref: Orphanet:183707 {source="MONDO:equivalentTo", source="OMIM:608203"} xref: SCTID:723443003 {source="MONDO:equivalentTo"} xref: UMLS:C1842398 {source="Orphanet:183707", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608203"} is_a: MONDO:0015978 {source="Orphanet:183707"} ! functional neutrophil defect is_a: MONDO:0017855 {source="PMID:31953710"} ! T-B- severe combined immunodeficiency property_value: exactMatch DOID:0112064 property_value: exactMatch http://identifiers.org/mesh/C564275 property_value: exactMatch http://identifiers.org/snomedct/723443003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842398 property_value: exactMatch https://omim.org/entry/608203 property_value: exactMatch Orphanet:183707 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0011992 name: hereditary spastic paraplegia 25 def: "Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1." [Orphanet:101005] subset: ordo_disease {source="Orphanet:101005"} synonym: "autosomal recessive spastic paraplegia 25" EXACT [DOID:0110776] synonym: "autosomal recessive spastic paraplegia type 25" EXACT [DOID:0110776] synonym: "autosomal recessive spastic paraplegia-disc herniation syndrome" EXACT [Orphanet:101005] synonym: "Disc herniation with spastic paraplegia, autosomal recessive" RELATED [OMIM:608220] synonym: "hereditary spastic paraplegia type 25" EXACT [DOID:0110776, MONDORULE:2] synonym: "spastic paraplegia 25" RELATED [GARD:0009582] synonym: "spastic paraplegia 25, autosomal recessive" RELATED [MONDO:Lexical, OMIM:608220] synonym: "SPG25" EXACT ABBREVIATION [DOID:0110776, MONDO:Lexical, OMIM:608220, Orphanet:101005] synonym: "spinal disc herniation with autosomal recessive spastic paraplegia" RELATED OMO:0003005 [] synonym: "spinal disk herniation with autosomal recessive spastic paraplegia" RELATED [GARD:0009582] xref: DOID:0110776 {source="MONDO:equivalentTo"} xref: MESH:C536861 {source="Orphanet:101005", source="MONDO:equivalentTo", source="Orphanet:101005/e"} xref: OMIM:608220 {source="DOID:0110776", source="Orphanet:101005", source="MONDO:equivalentTo", source="Orphanet:101005/e"} xref: Orphanet:101005 {source="DOID:0110776", source="MONDO:equivalentTo", source="OMIM:608220"} xref: SCTID:732933009 {source="MONDO:equivalentTo"} xref: UMLS:C2936860 {source="Orphanet:101005", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608220", source="Orphanet:101005/e"} xref: UMLS:C4518003 {source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:101005"} ! autosomal recessive complex spastic paraplegia property_value: exactMatch DOID:0110776 property_value: exactMatch http://identifiers.org/mesh/C536861 property_value: exactMatch http://identifiers.org/snomedct/732933009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2936860 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518003 property_value: exactMatch https://omim.org/entry/608220 property_value: exactMatch Orphanet:101005 [Term] id: MONDO:0011995 name: cataract - congenital heart disease - neural tube defect syndrome def: "Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). hypotonia, growth and developmental delay, seizures, and joint limitation are also reported." [Orphanet:314993] subset: ordo_malformation_syndrome {source="Orphanet:314993"} synonym: "craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developintellectual disability" RELATED [OMIM:608227] synonym: "craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation" RELATED DEPRECATED [OMIM:608227] xref: MESH:C564271 {source="MONDO:equivalentTo"} xref: OMIM:608227 {source="Orphanet:314993/e", source="MONDO:equivalentTo", source="Orphanet:314993"} xref: Orphanet:314993 {source="OMIM:608227", source="MONDO:equivalentTo"} xref: UMLS:C1842363 {source="OMIM:608227", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:314993", source="Orphanet:314993/inferred"} ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch http://identifiers.org/mesh/C564271 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842363 property_value: exactMatch https://omim.org/entry/608227 property_value: exactMatch Orphanet:314993 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0011997 name: Hermansky-Pudlak syndrome 2 def: "A type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." [Orphanet:183678] subset: gard_rare {source="GARD:0009435"} subset: ordo_clinical_subtype {source="Orphanet:183678"} synonym: "AP3B1 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Hermansky Pudlak syndrome 2" RELATED [GARD:0009435] synonym: "Hermansky-Pudlak syndrome 2" EXACT [MONDO:Lexical, OMIM:608233] synonym: "Hermansky-Pudlak syndrome caused by mutation in AP3B1" EXACT [MONDO:design_pattern] synonym: "Hermansky-Pudlak syndrome type 2" EXACT [DOID:0060540, MONDORULE:1, OMIM:608233, Orphanet:183678] synonym: "Hermansky-Pudlak syndrome with neutropenia" RELATED [Orphanet:183678] synonym: "HPS-2" EXACT ABBREVIATION [Orphanet:183678] synonym: "HPS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608233, Orphanet:183678] synonym: "Platelet defects and oculocutaneous albinism" RELATED [GARD:0009435] xref: DOID:0060540 {source="MONDO:equivalentTo"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:183678/attributed", source="Orphanet:183678/ntbt", source="Orphanet:183678"} xref: MESH:C537709 {source="MONDO:equivalentTo"} xref: NCIT:C150368 {source="MONDO:equivalentTo"} xref: OMIM:608233 {source="Orphanet:183678/e", source="DOID:0060540", source="MONDO:equivalentTo", source="Orphanet:183678"} xref: Orphanet:183678 {source="MONDO:equivalentTo", source="OMIM:608233"} xref: UMLS:C1842362 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608233", source="Orphanet:183678"} is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia is_a: MONDO:0015541 ! hereditary hemophagocytic lymphohistiocytosis is_a: MONDO:0019312 {source="DC-OMIM:608233", source="DOID:0060540", source="MESH:C537709", source="MONDO:Redundant", source="NCIT:C150368", source="OMIM:608233", source="Orphanet:183678"} ! Hermansky-Pudlak syndrome property_value: exactMatch DOID:0060540 property_value: exactMatch http://identifiers.org/mesh/C537709 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842362 property_value: exactMatch https://omim.org/entry/608233 property_value: exactMatch NCIT:C150368 property_value: exactMatch Orphanet:183678 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9435/hermansky-pudlak-syndrome-2 xsd:anyURI {source="GARD:0009435"} [Term] id: MONDO:0011998 name: autosomal dominant slowed nerve conduction velocity def: "Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene." [Orphanet:140481] subset: ordo_disease {source="Orphanet:140481"} synonym: "autosomal dominant slowed nerve conduction velocity" EXACT [] synonym: "slowed nerve conduction velocity, AD" EXACT [OMIM:608236, OMIM:genemap2] synonym: "slowed nerve conduction velocity, autosomal dominant" RELATED [MONDO:Lexical, OMIM:608236] synonym: "SNCV" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608236] xref: MESH:C564269 {source="MONDO:equivalentTo"} xref: OMIM:608236 {source="Orphanet:140481", source="MONDO:equivalentTo", source="Orphanet:140481/e"} xref: Orphanet:140481 {source="MONDO:equivalentTo", source="OMIM:608236"} xref: SCTID:764854006 {source="MONDO:equivalentTo"} xref: UMLS:C1842357 {source="Orphanet:140481", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608236"} is_a: MONDO:0015359 {source="Orphanet:140481"} ! autosomal dominant hereditary demyelinating motor and sensory neuropathy property_value: exactMatch http://identifiers.org/mesh/C564269 property_value: exactMatch http://identifiers.org/snomedct/764854006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842357 property_value: exactMatch https://omim.org/entry/608236 property_value: exactMatch Orphanet:140481 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012008 name: Lelis syndrome def: "Lelis syndrome is characterized by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans." [Orphanet:140936] subset: gard_rare {source="GARD:0010367"} subset: ordo_malformation_syndrome {source="Orphanet:140936"} synonym: "ectodermal dysplasia, hypohidrotic, with acanthosis nigricans" RELATED [OMIM:608290] synonym: "ectodermal dysplasia-acanthosis nigricans syndrome" EXACT [Orphanet:140936] synonym: "Lelis syndrome" EXACT [OMIM:608290] xref: MESH:C564261 {source="MONDO:equivalentTo"} xref: OMIM:608290 {source="Orphanet:140936", source="MONDO:equivalentTo", source="Orphanet:140936/e"} xref: Orphanet:140936 {source="OMIM:608290", source="MONDO:equivalentTo"} xref: SCTID:719429003 {source="MONDO:equivalentTo"} xref: UMLS:C1842307 {source="Orphanet:140936", source="OMIM:608290", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019287 {source="MESH:C564261", source="Orphanet:140936"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C564261 property_value: exactMatch http://identifiers.org/snomedct/719429003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842307 property_value: exactMatch https://omim.org/entry/608290 property_value: exactMatch Orphanet:140936 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10367/lelis-syndrome xsd:anyURI {source="GARD:0010367"} [Term] id: MONDO:0012012 name: Charcot-Marie-Tooth disease dominant intermediate C def: "Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibers, segmental remyelination, and no onion bulbs." [Orphanet:100045] subset: ordo_disease {source="Orphanet:100045"} synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type C" EXACT [DOID:0110199] synonym: "Charcot-Marie-Tooth disease caused by mutation in YARS" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease dominant intermediate type C" EXACT [DOID:0110199, MONDORULE:1] synonym: "Charcot-Marie-Tooth disease, dominant intermediate C" RELATED [MONDO:Lexical, OMIM:608323] synonym: "Charcot-Marie-Tooth disease, dominant Intermediate type C" EXACT [MONDORULE:1, OMIM:608323] synonym: "Charcot-Marie-Tooth neuropathy dominant intermediate C" EXACT [DOID:0110199] synonym: "Charcot-Marie-Tooth neuropathy, dominant Intermediate C" RELATED [OMIM:608323] synonym: "CMTDIC" EXACT ABBREVIATION [DOID:0110199, MONDO:Lexical, OMIM:608323, Orphanet:100045] synonym: "DI-CMTC" EXACT [DOID:0110199] synonym: "Di-Cmtc" RELATED [OMIM:608323] synonym: "YARS Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "YARS-related intermediate Charcot-Marie-Tooth neuropathy" RELATED [GARD:0012439] xref: DOID:0110199 {source="MONDO:equivalentTo"} xref: MESH:C564257 {source="MONDO:equivalentTo"} xref: OMIM:608323 {source="Orphanet:100045", source="MONDO:equivalentTo", source="Orphanet:100045/e", source="DOID:0110199"} xref: Orphanet:100045 {source="MONDO:equivalentTo", source="OMIM:608323", source="DOID:0110199"} xref: SCTID:765746008 {source="MONDO:equivalentTo"} xref: UMLS:C1842237 {source="Orphanet:100045", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608323"} is_a: MONDO:0019548 {source="Orphanet:100045", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant intermediate Charcot-Marie-Tooth disease property_value: exactMatch DOID:0110199 property_value: exactMatch http://identifiers.org/mesh/C564257 property_value: exactMatch http://identifiers.org/snomedct/765746008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842237 property_value: exactMatch https://omim.org/entry/608323 property_value: exactMatch Orphanet:100045 [Term] id: MONDO:0012013 name: Weill-Marchesani syndrome 2, dominant def: "A Weill-Marchesani syndrome characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome." [Orphanet:2084] subset: ordo_malformation_syndrome {source="Orphanet:2084"} synonym: "GEMSS" EXACT ABBREVIATION [GARD:0002452] synonym: "GEMSS syndrome" EXACT [Orphanet:2084] synonym: "glaucoma, ectopia, microspherophakia, Stiff joints and short stature syndrome" EXACT [GARD:0002452] synonym: "glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome" EXACT [OMIM:608328] synonym: "mesodermal Dysmorphodystrophy, congenital" BROAD [OMIM:608328] synonym: "spherophakia-brachymorphia syndrome" BROAD [OMIM:608328] synonym: "Weill-Marchesani syndrome 2" EXACT [MONDO:Lexical, OMIM:608328] synonym: "Weill-Marchesani syndrome type 2" EXACT [MONDORULE:1, OMIM:608328] synonym: "Weill-Marchesani syndrome, autosomal dominant" EXACT [OMIM:608328] synonym: "WMS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608328] xref: OMIM:608328 {source="Orphanet:2084/e", source="MONDO:equivalentTo", source="Orphanet:2084"} xref: Orphanet:2084 {source="OMIM:608328", source="MONDO:equivalentTo"} xref: SCTID:722450007 {source="MONDO:equivalentTo"} is_a: MONDO:0018096 {source="DC-OMIM:608328", source="OMIM:608328"} ! Weill-Marchesani syndrome property_value: exactMatch http://identifiers.org/snomedct/722450007 property_value: exactMatch https://omim.org/entry/608328 property_value: exactMatch Orphanet:2084 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0012014 name: Charcot-Marie-Tooth disease recessive intermediate A def: "Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology." [Orphanet:217055] subset: ordo_disease {source="Orphanet:217055"} synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type A" EXACT [DOID:0110201] synonym: "Charcot-Marie-Tooth disease caused by mutation in GDAP1" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease recessive intermediate type A" EXACT [DOID:0110201, MONDORULE:1] synonym: "Charcot-Marie-Tooth disease, recessive intermediate A" RELATED [MONDO:Lexical, OMIM:608340] synonym: "Charcot-Marie-Tooth disease, recessive Intermediate type a" EXACT [MONDORULE:1, OMIM:608340] synonym: "Charcot-Marie-Tooth disease, recessive intermediate, A" RELATED [GARD:0012453] synonym: "Charcot-Marie-Tooth neuropathy recessive intermediate A" EXACT [DOID:0110201] synonym: "Charcot-Marie-Tooth neuropathy, recessive Intermediate a" RELATED [OMIM:608340] synonym: "CMTRIA" EXACT ABBREVIATION [DOID:0110201, MONDO:Lexical, OMIM:608340] synonym: "GDAP1 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "RI-CMT type A" EXACT [Orphanet:217055] synonym: "RI-CMTA" EXACT [DOID:0110201] synonym: "Ri-Cmta" RELATED [OMIM:608340] xref: DOID:0110201 {source="MONDO:equivalentTo"} xref: MESH:C564256 {source="MONDO:equivalentTo"} xref: OMIM:608340 {source="Orphanet:217055/e", source="MONDO:equivalentTo", source="Orphanet:217055", source="DOID:0110201"} xref: Orphanet:217055 {source="MONDO:equivalentTo", source="OMIM:608340", source="DOID:0110201"} xref: UMLS:C1842197 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608340", source="Orphanet:217055"} is_a: MONDO:0017058 {source="Orphanet:217055"} ! autosomal recessive intermediate Charcot-Marie-Tooth disease property_value: exactMatch DOID:0110201 property_value: exactMatch http://identifiers.org/mesh/C564256 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842197 property_value: exactMatch https://omim.org/entry/608340 property_value: exactMatch Orphanet:217055 [Term] id: MONDO:0012016 name: capillary malformation-arteriovenous malformation syndrome def: "This syndrome is characterized by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas." [Orphanet:137667] subset: gard_rare {source="GARD:0011904"} subset: ordo_malformation_syndrome {source="Orphanet:137667"} synonym: "capillary malformation without arteriovenous malformation" RELATED [OMIM:608354] synonym: "capillary malformation-arteriovenous malformation" RELATED [MONDO:Lexical, OMIM:608354] synonym: "CM-AVM" EXACT [Orphanet:137667] synonym: "CM-AVM syndrome" RELATED [GARD:0011904] synonym: "CMAVM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608354] xref: ICD9:747.69 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C564254 {source="MONDO:equivalentTo"} xref: NCIT:C179668 {source="MONDO:equivalentTo"} xref: OMIMPS:608354 {source="MONDO:equivalentTo"} xref: Orphanet:137667 {source="MONDO:equivalentTo", source="OMIM:608354"} xref: SCTID:703533007 {source="MONDO:equivalentTo"} is_a: MONDO:0016229 {source="Orphanet:137667"} ! hereditary vascular anomaly is_a: MONDO:0016231 {source="Orphanet:137667"} ! capillary malformation property_value: exactMatch http://identifiers.org/mesh/C564254 property_value: exactMatch http://identifiers.org/snomedct/703533007 property_value: exactMatch https://omim.org/phenotypicSeries/PS608354 property_value: exactMatch NCIT:C179668 property_value: exactMatch Orphanet:137667 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11904/capillary-malformation-arteriovenous-malformation-syndrome xsd:anyURI {source="GARD:0011904"} [Term] id: MONDO:0012017 name: obsolete Parkes Weber syndrome property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/114 xsd:anyURI is_obsolete: true replaced_by: MONDO:0020783 [Term] id: MONDO:0012019 name: spondyloepiphyseal dysplasia, Kimberley type def: "Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy." [Orphanet:93283] subset: ordo_disease {source="Orphanet:93283"} synonym: "SEDK" RELATED ABBREVIATION [OMIM:608361] synonym: "Sedk" RELATED [OMIM:608361] synonym: "spondyloepiphyseal dysplasia, Kimberley type" EXACT [OMIM:608361] xref: DOID:0112282 {source="MONDO:equivalentTo"} xref: MESH:C564252 {source="MONDO:equivalentTo"} xref: OMIM:608361 {source="Orphanet:93283/e", source="MONDO:equivalentTo", source="Orphanet:93283"} xref: Orphanet:93283 {source="MONDO:equivalentTo", source="OMIM:608361"} xref: SCTID:719203001 {source="MONDO:equivalentTo"} is_a: MONDO:0016761 {source="Orphanet:93283"} ! spondyloepiphyseal dysplasia is_a: MONDO:0018239 {source="Orphanet:93283", source="PMID:31633310"} ! aggrecan-related bone disorder property_value: exactMatch DOID:0112282 property_value: exactMatch http://identifiers.org/mesh/C564252 property_value: exactMatch http://identifiers.org/snomedct/719203001 property_value: exactMatch https://omim.org/entry/608361 property_value: exactMatch Orphanet:93283 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0012020 name: chromosome 22q11.2 microduplication syndrome def: "The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS), establishing a complementary duplication syndrome." [Orphanet:1727] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1727"} synonym: "22q11 duplication syndrome" EXACT [DECIPHER:32] synonym: "22q11.2 duplication" RELATED [GARD:0010557] synonym: "22q11.2 duplication syndrome" RELATED [GARD:0010557] synonym: "22q11.2 microduplication syndrome" EXACT [DOID:0060436, GARD:0010557] synonym: "chromosome 22q11.2 DUPLICATION syndrome" RELATED [OMIM:608363] synonym: "chromosome 22q11.2 duplication syndrome" RELATED [GARD:0010557] synonym: "chromosome 22q11.2 microduplication syndrome" EXACT [OMIM:608363] synonym: "chromosome 22q11.2 microduplication syndrome, isolated cases" EXACT [OMIM:608363, OMIM:genemap2] synonym: "dup(22)(q11)" EXACT [Orphanet:1727] synonym: "Duplication 22q11.2" EXACT [Orphanet:1727] synonym: "duplication 22q11.2" EXACT [DOID:0060436] synonym: "trisomy 22q11.2" EXACT [DOID:0060436, Orphanet:1727] xref: DECIPHER:32 {source="MONDO:equivalentTo"} xref: DOID:0060436 {source="MONDO:equivalentTo"} xref: ICD9:758.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C567224 {source="MONDO:equivalentTo"} xref: OMIM:608363 {source="Orphanet:1727/e", source="MONDO:equivalentTo", source="GARD:0010557", source="DOID:0060436", source="Orphanet:1727"} xref: Orphanet:1727 {source="MONDO:equivalentTo", source="GARD:0010557", source="OMIM:608363", source="DOID:0060436"} xref: SCTID:699311001 {source="MONDO:equivalentTo"} xref: UMLS:C2675369 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="GARD:0010557", source="OMIM:608363", source="Orphanet:1727"} is_a: MONDO:0016972 {source="Orphanet:1727"} ! partial duplication of the long arm of chromosome 22 property_value: exactMatch DOID:0060436 property_value: exactMatch http://identifiers.org/mesh/C567224 property_value: exactMatch http://identifiers.org/snomedct/699311001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675369 property_value: exactMatch https://omim.org/entry/608363 property_value: exactMatch Orphanet:1727 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10557/22q112-duplication-syndrome xsd:anyURI {source="GARD:0010557"} [Term] id: MONDO:0012031 name: platelet-type bleeding disorder 10 def: "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the CD36 gene." [MONDO:patterns/disease_series_by_gene] synonym: "BDPLT10" EXACT ABBREVIATION [DOID:0111046] synonym: "bleeding disorder, Platelet-type, 10" RELATED [OMIM:608404] synonym: "CD36 deficiency" EXACT [DOID:0111046] synonym: "CD36 inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "inherited bleeding disorder, platelet-type caused by mutation in CD36" EXACT [MONDO:design_pattern] synonym: "platelet glycoprotein 4 deficiency" RELATED [OMIM:608404] synonym: "platelet glycoprotein IV deficiency" EXACT [DOID:0111046] synonym: "platelet-type bleeding disorder 10" EXACT [] xref: DOID:0111046 {source="MONDO:equivalentTo"} xref: MESH:C564245 {source="MONDO:equivalentTo"} xref: OMIM:608404 {source="MONDO:equivalentTo", source="DOID:0111046"} xref: UMLS:C1842090 {source="OMIM:608404", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000009 {source="DC-OMIM:608404", source="MONDO:Redundant", source="OMIM:608404"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0021181 ! inherited blood coagulation disorder property_value: exactMatch DOID:0111046 property_value: exactMatch http://identifiers.org/mesh/C564245 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842090 property_value: exactMatch https://omim.org/entry/608404 [Term] id: MONDO:0012032 name: Braddock syndrome def: "Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect." [Orphanet:52047] subset: ordo_malformation_syndrome {source="Orphanet:52047"} synonym: "VATER-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency" RELATED [OMIM:608406] synonym: "Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency" EXACT [Orphanet:52047] xref: MESH:C564244 {source="MONDO:equivalentTo"} xref: OMIM:608406 {source="Orphanet:52047", source="MONDO:equivalentTo", source="Orphanet:52047/e"} xref: Orphanet:52047 {source="OMIM:608406", source="MONDO:equivalentTo"} xref: SCTID:720575002 {source="MONDO:equivalentTo"} xref: UMLS:C1842082 {source="OMIM:608406", source="Orphanet:52047", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4303988 {source="MONDO:equivalentTo"} is_a: MONDO:0005149 {source="MONDO:0017159-obsoleted"} ! pulmonary hypertension is_a: MONDO:0015161 {source="Orphanet:52047"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C564244 property_value: exactMatch http://identifiers.org/snomedct/720575002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842082 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303988 property_value: exactMatch https://omim.org/entry/608406 property_value: exactMatch Orphanet:52047 [Term] id: MONDO:0012033 name: bradyopsia def: "Bradyopsia is characterized by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia." [Orphanet:75374] subset: gard_rare {source="GARD:0012299"} subset: ordo_disease {source="Orphanet:75374"} synonym: "bradyopsia" EXACT [OMIM:608415] synonym: "PERRS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608415, Orphanet:75374] synonym: "prolonged electroretinal response suppression" EXACT [DOID:0050335, MONDO:Lexical, OMIM:608415, Orphanet:75374] xref: DOID:0050335 {source="MONDO:equivalentTo"} xref: DOID:0070363 {source="MONDO:equivalentTo"} xref: ICD9:368.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C564243 {source="DOID:0050335", source="MONDO:equivalentTo"} xref: OMIM:608415 {source="DOID:0050335", source="Orphanet:75374/e", source="MONDO:equivalentTo", source="Orphanet:75374"} xref: Orphanet:75374 {source="OMIM:608415", source="DOID:0050335", source="MONDO:equivalentTo"} xref: SCTID:711163009 {source="DOID:0050335", source="MONDO:equivalentTo"} is_a: MONDO:0020238 {source="Orphanet:75374"} ! inherited vitreous-retinal disease property_value: exactMatch DOID:0050335 property_value: exactMatch DOID:0070363 property_value: exactMatch http://identifiers.org/mesh/C564243 property_value: exactMatch http://identifiers.org/snomedct/711163009 property_value: exactMatch https://omim.org/entry/608415 property_value: exactMatch Orphanet:75374 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12299/bradyopsia xsd:anyURI {source="GARD:0012299"} [Term] id: MONDO:0012034 name: autosomal dominant limb-girdle muscular dystrophy type 1F def: "Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a subtype of autosomal dominant limb-girdle muscular dystrophy,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed." [Orphanet:55595] subset: ordo_disease {source="Orphanet:55595"} synonym: "LGMD1F" EXACT ABBREVIATION [DOID:0110304, MONDO:Lexical, OMIM:608423, Orphanet:55595] synonym: "limb-girdle muscular dystrophy type 1F" RELATED [GARD:0012530] synonym: "muscular dystrophy limb-girdle type 1F" EXACT [DOID:0110304] synonym: "muscular dystrophy, limb-girdle, autosomal dominant 2" EXACT [OMIM:608423, OMIM:genemap2] synonym: "muscular dystrophy, limb-girdle, type 1F" RELATED [MONDO:Lexical, OMIM:608423] xref: DOID:0110304 {source="MONDO:equivalentTo"} xref: MESH:C564242 {source="MONDO:equivalentTo"} xref: OMIM:608423 {source="Orphanet:55595/e", source="DOID:0110304", source="MONDO:equivalentTo", source="Orphanet:55595"} xref: Orphanet:55595 {source="DOID:0110304", source="MONDO:equivalentTo", source="OMIM:608423"} xref: SCTID:719989007 {source="MONDO:equivalentTo"} is_a: MONDO:0015151 {source="DOID:0110304", source="OMIM:608423", source="Orphanet:55595"} ! muscular dystrophy, limb-girdle, autosomal dominant property_value: exactMatch DOID:0110304 property_value: exactMatch http://identifiers.org/mesh/C564242 property_value: exactMatch http://identifiers.org/snomedct/719989007 property_value: exactMatch https://omim.org/entry/608423 property_value: exactMatch Orphanet:55595 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012035 name: craniosynostosis-intracranial calcifications syndrome def: "Craniosynostosis-intracranial calcification is a form of syndromic craniosynostosis, characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner." [Orphanet:52054] subset: ordo_malformation_syndrome {source="Orphanet:52054"} synonym: "craniosynostosis, calcification of basal ganglia, and facial dysmorphism" RELATED [OMIM:608432] synonym: "Longman-Tolmie syndrome" EXACT [Orphanet:52054] xref: MESH:C564241 {source="MONDO:equivalentTo"} xref: OMIM:608432 {source="Orphanet:52054/e", source="MONDO:equivalentTo", source="Orphanet:52054"} xref: Orphanet:52054 {source="MONDO:equivalentTo", source="OMIM:608432"} xref: SCTID:720816004 {source="MONDO:equivalentTo"} xref: UMLS:C1842058 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608432"} is_a: MONDO:0015338 {source="Orphanet:52054"} ! syndromic craniosynostosis property_value: exactMatch http://identifiers.org/mesh/C564241 property_value: exactMatch http://identifiers.org/snomedct/720816004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842058 property_value: exactMatch https://omim.org/entry/608432 property_value: exactMatch Orphanet:52054 [Term] id: MONDO:0012041 name: familial adenomatous polyposis 2 def: "An autosomal recessive hereditary neoplastic syndrome caused by mutations in the MUTYH gene on chromosome 1p34.1. It is characterized by the presence of multiple colorectal polyps that may progress to carcinoma. Development of gastric and small intestinal polyps may also occur." [NCIT:C96520] subset: clingen subset: gard_rare {source="GARD:0010805"} subset: ordo_clinical_subtype {source="Orphanet:247798"} synonym: "adenomas, multiple colorectal, autosomal recessive" EXACT [OMIM:608456] synonym: "autosomal recessive familial adenomatous polyposis" RELATED [GARD:0010805] synonym: "autosomal recessive multiple colorectal adenomas" RELATED [GARD:0010805] synonym: "colorectal adenomatous polyposis, autosomal recessive" EXACT [OMIM:608456] synonym: "familial adenomatous polyposis 2" EXACT [OMIM:608456] synonym: "familial adenomatous polyposis, 2" EXACT [MONDO:Lexical, OMIM:608456] synonym: "familial adenomatous polyposis, type 2" EXACT [MONDORULE:1, OMIM:608456] synonym: "FAP2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608456] synonym: "MAP" EXACT ABBREVIATION [NCIT:C96520] synonym: "MAP syndrome" RELATED [GARD:0010805] synonym: "MUTYH-associated polyposis" EXACT [NCIT:C96520] synonym: "MUTYH-related AFAP" EXACT [Orphanet:247798] synonym: "MUTYH-related attenuated familial adenomatous polyposis" EXACT [Orphanet:247798] synonym: "MUTYH-related attenuated familial polyposis coli" EXACT [Orphanet:247798] synonym: "MUTYH-related attenuated FAP" EXACT [Orphanet:247798] synonym: "MYH-associated polyposis" RELATED [GARD:0010805] xref: DOID:0080410 {source="MONDO:equivalentTo"} xref: MESH:C563924 {source="MONDO:equivalentTo"} xref: NCIT:C96520 {source="MONDO:equivalentTo"} xref: OMIM:608456 {source="Orphanet:247798", source="MONDO:equivalentTo", source="Orphanet:247798/e"} xref: Orphanet:247798 {source="MONDO:equivalentTo", source="OMIM:608456"} xref: UMLS:C1837991 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608456"} is_a: EFO:1000017 {source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0016362 {source="Orphanet:247798"} ! attenuated familial adenomatous polyposis is_a: MONDO:0021055 {source="OMIM:608456"} ! classic familial adenomatous polyposis property_value: exactMatch DOID:0080410 property_value: exactMatch http://identifiers.org/mesh/C563924 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837991 property_value: exactMatch https://omim.org/entry/608456 property_value: exactMatch NCIT:C96520 property_value: exactMatch Orphanet:247798 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5374 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10805/myh-associated-polyposis xsd:anyURI {source="GARD:0010805"} [Term] id: MONDO:0012043 name: Reis-Bucklers corneal dystrophy def: "Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment." [Orphanet:98961] subset: ordo_disease {source="Orphanet:98961"} synonym: "anterior limiting membrane dystrophy type 1" EXACT [Orphanet:98961] synonym: "anterior limiting membrane dystrophy type I" EXACT [DOID:0060453, Orphanet:98961] synonym: "atypical granular corneal dystrophy" EXACT [Orphanet:98961] synonym: "CDB1" RELATED ABBREVIATION [GARD:0009276] synonym: "CDRB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608470] synonym: "corneal dystrophy geographic" RELATED [GARD:0009276] synonym: "corneal dystrophy of Bowman layer type 1" EXACT [Orphanet:98961] synonym: "corneal dystrophy of Bowman layer type I" EXACT [DOID:0060453, Orphanet:98961] synonym: "corneal dystrophy of Bowman Layer, type 1" RELATED [OMIM:608470] synonym: "corneal dystrophy Reis Bucklers type" RELATED [GARD:0009276] synonym: "corneal dystrophy, geographic" RELATED [OMIM:608470] synonym: "corneal dystrophy, REIS-Bucklers type" RELATED [MONDO:Lexical, OMIM:608470] synonym: "geographic corneal dystrophy" EXACT [DOID:0060453, Orphanet:98961] synonym: "granular corneal dystrophy type 3" EXACT [Orphanet:98961] synonym: "granular corneal dystrophy type III" EXACT [DOID:0060453, Orphanet:98961] synonym: "granular corneal dystrophy, type 3" RELATED [OMIM:608470] synonym: "RBCD" EXACT ABBREVIATION [DOID:0060453, Orphanet:98961] synonym: "Reis Bucklers corneal dystrophy" RELATED [GARD:0009276] synonym: "Reis Bucklers dystrophy" RELATED [GARD:0009276] synonym: "Reis-Bucklers corneal dystrophy" EXACT [OMIM:608470] synonym: "Reis-Bücklers corneal dystrophy" RELATED [Orphanet:98961] synonym: "superficial granular corneal dystrophy" EXACT [Orphanet:98961] xref: DOID:0060453 {source="MONDO:equivalentTo"} xref: ICD9:371.52 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535476 {source="Orphanet:98961", source="DOID:0060453", source="MONDO:equivalentTo", source="Orphanet:98961/e"} xref: OMIM:608470 {source="Orphanet:98961", source="DOID:0060453", source="MONDO:equivalentTo", source="Orphanet:98961/e"} xref: Orphanet:98961 {source="DOID:0060453", source="MONDO:equivalentTo", source="OMIM:608470"} xref: SCTID:231930000 {source="DOID:0060453", source="MONDO:equivalentTo"} xref: UMLS:C0339278 {source="Orphanet:98961", source="DOID:0060453", source="MONDO:equivalentTo", source="Orphanet:98961/e", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608470"} is_a: MONDO:0000764 {source="DOID:0060453"} ! epithelial-stromal TGFBI dystrophy is_a: MONDO:0020212 {source="Orphanet:98961"} ! superficial corneal dystrophy property_value: exactMatch DOID:0060453 property_value: exactMatch http://identifiers.org/mesh/C535476 property_value: exactMatch http://identifiers.org/snomedct/231930000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339278 property_value: exactMatch https://omim.org/entry/608470 property_value: exactMatch Orphanet:98961 [Term] id: MONDO:0012052 name: ALG1-congenital disorder of glycosylation def: "A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3)." [Orphanet:79327] subset: ordo_disease {source="Orphanet:79327"} synonym: "ALG1-CDG" EXACT ABBREVIATION [Orphanet:79327] synonym: "ALG1-CDG (CDG-Ik)" RELATED [GARD:0009838] synonym: "ALG1-congenital disorder of glycosylation" EXACT [] synonym: "carbohydrate deficient glycoprotein syndrome type Ik" EXACT [Orphanet:79327] synonym: "CDG 1K" RELATED [GARD:0009838] synonym: "CDG Ik" RELATED [OMIM:608540] synonym: "CDG syndrome type Ik" EXACT [Orphanet:79327] synonym: "CDG-Ik" EXACT [Orphanet:79327] synonym: "CDG1K" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608540, Orphanet:79327] synonym: "congenital disorder of glycosylation type 1k" EXACT [Orphanet:79327] synonym: "congenital disorder of glycosylation type Ik" EXACT [Orphanet:79327] synonym: "congenital disorder of glycosylation, type Ik" RELATED [MONDO:Lexical, OMIM:608540] synonym: "mannosyltransferase 1 deficiency" EXACT [Orphanet:79327] xref: DOID:0080563 {source="MONDO:equivalentTo"} xref: MESH:C535749 {source="MONDO:equivalentTo"} xref: OMIM:608540 {source="Orphanet:79327", source="MONDO:equivalentTo", source="Orphanet:79327/e"} xref: Orphanet:79327 {source="MONDO:equivalentTo", source="OMIM:608540"} xref: SCTID:720941007 {source="MONDO:equivalentTo"} xref: UMLS:C2931005 {source="Orphanet:79327", source="MONDO:equivalentTo", source="OMIM:608540"} is_a: EFO:0005545 {source="DC-OMIM:608540"} ! congenital disorder of glycosylation type I is_a: MONDO:0017740 {source="Orphanet:79327"} ! disorder of protein N-glycosylation property_value: exactMatch DOID:0080563 property_value: exactMatch http://identifiers.org/mesh/C535749 property_value: exactMatch http://identifiers.org/snomedct/720941007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931005 property_value: exactMatch https://omim.org/entry/608540 property_value: exactMatch Orphanet:79327 [Term] id: MONDO:0012055 name: Larsen-like osseous dysplasia-short stature syndrome def: "Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia." [Orphanet:2370] subset: ordo_malformation_syndrome {source="Orphanet:2370"} synonym: "Larsen-like syndrome" RELATED [OMIM:608545] synonym: "Larsen-like syndrome, isolated cases" EXACT [OMIM:608545, OMIM:genemap2] synonym: "Lrsl" RELATED [OMIM:608545] xref: MESH:C563914 {source="MONDO:equivalentTo"} xref: OMIM:608545 {source="Orphanet:2370/e", source="MONDO:equivalentTo", source="Orphanet:2370"} xref: Orphanet:2370 {source="MONDO:equivalentTo", source="OMIM:608545"} xref: UMLS:C1837884 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608545"} is_a: MONDO:0018230 {source="Orphanet:2370"} ! skeletal dysplasia property_value: exactMatch http://identifiers.org/mesh/C563914 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837884 property_value: exactMatch https://omim.org/entry/608545 property_value: exactMatch Orphanet:2370 property_value: excluded_subClassOf MONDO:0019700 {source="Orphanet:2370"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012057 name: legionnaire disease, susceptibility to subset: predisposition synonym: "Legionella infection" RELATED [GARD:0006876] synonym: "legionnaire disease, susceptibility to" EXACT [OMIM:608556] synonym: "legionnaire's disease" RELATED [GARD:0006876] synonym: "susceptibility to legionnaire disease" RELATED [OMIM:608556] xref: OMIM:608556 {source="MONDO:equivalentTo"} is_a: MONDO:0015979 ! hereditary predisposition to infections intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: predisposes_towards EFO:0007343 ! Legionnaires' disease relationship: predisposes_towards EFO:0007343 ! Legionnaires' disease property_value: exactMatch https://omim.org/entry/608556 [Term] id: MONDO:0012061 name: familial sick sinus syndrome def: "Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients." [Orphanet:166282] subset: ordo_disease {source="Orphanet:166282"} synonym: "familial sinus node dysfunction" EXACT [Orphanet:166282] synonym: "hereditary sick sinus syndrome" EXACT [MONDO:patterns/hereditary] synonym: "sick sinus syndrome 1, autosomal recessive" RELATED [MONDO:Lexical, OMIM:608567] synonym: "SSS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608567] xref: MedDRA:10040639 {source="Orphanet:166282/e", source="Orphanet:166282"} xref: MESH:C563907 {source="MONDO:equivalentTo"} xref: OMIMPS:608567 {source="MONDO:equivalentTo"} xref: Orphanet:166282 {source="MONDO:equivalentTo", source="OMIM:608567"} xref: SCTID:233913007 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0001823 {source="DC-OMIM:608567", source="MESH:C563907", source="MONDO:Redundant", source="OMIM:608567"} ! sick sinus syndrome intersection_of: MONDO:0001823 ! sick sinus syndrome intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: closeMatch http://identifiers.org/meddra/10040639 property_value: exactMatch http://identifiers.org/mesh/C563907 property_value: exactMatch http://identifiers.org/snomedct/233913007 property_value: exactMatch https://omim.org/phenotypicSeries/PS608567 property_value: exactMatch Orphanet:166282 [Term] id: MONDO:0012063 name: ulnar/fibula ray defect-brachydactyly syndrome def: "Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism." [Orphanet:52056] subset: ordo_malformation_syndrome {source="Orphanet:52056"} synonym: "Morava-Mehes syndrome" EXACT [Orphanet:52056] synonym: "ulnar/fibular RAY defect and brachydactyly" RELATED [OMIM:608571] xref: MESH:C563905 {source="MONDO:equivalentTo"} xref: OMIM:608571 {source="Orphanet:52056", source="MONDO:equivalentTo", source="Orphanet:52056/e"} xref: Orphanet:52056 {source="MONDO:equivalentTo", source="OMIM:608571"} xref: SCTID:719843001 {source="MONDO:equivalentTo"} is_a: MONDO:0019054 {source="Orphanet:52056", source="Orphanet:52056/inferred"} ! congenital limb malformation property_value: exactMatch http://identifiers.org/mesh/C563905 property_value: exactMatch http://identifiers.org/snomedct/719843001 property_value: exactMatch https://omim.org/entry/608571 property_value: exactMatch Orphanet:52056 [Term] id: MONDO:0012064 name: choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome def: "Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome." [Orphanet:1200] subset: gard_rare {source="GARD:0010041"} subset: ordo_malformation_syndrome {source="Orphanet:1200"} synonym: "bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance" RELATED [GARD:0010041] synonym: "BMKS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608572] synonym: "Burn-McKeown syndrome" EXACT [MONDO:Lexical, OMIM:608572, Orphanet:1200] synonym: "choanal atresia deafness cardiac defects dysmorphism" RELATED [GARD:0010041] synonym: "oculootofacial dysplasia" EXACT [OMIM:608572] xref: DOID:0080695 {source="MONDO:equivalentTo"} xref: MESH:C563682 {source="MONDO:equivalentTo"} xref: OMIM:608572 {source="Orphanet:1200", source="MONDO:equivalentTo", source="Orphanet:1200/e"} xref: Orphanet:1200 {source="MONDO:equivalentTo", source="OMIM:608572"} xref: UMLS:C1835913 {source="MONDO:equivalentTo"} is_a: MONDO:0015161 {source="Orphanet:1200"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015503 {source="Orphanet:1200"} ! nose and cavum anomaly is_a: MONDO:0018562 {source="Orphanet:1200", source="Orphanet:1200/inferred"} ! hereditary otorhinolaryngological malformation property_value: exactMatch DOID:0080695 property_value: exactMatch http://identifiers.org/mesh/C563682 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835913 property_value: exactMatch https://omim.org/entry/608572 property_value: exactMatch Orphanet:1200 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10041/choanal-atresia-hearing-loss-cardiac-defects-craniofacial-dysmorphism-syndrome xsd:anyURI {source="GARD:0010041"} [Term] id: MONDO:0012072 name: familial partial lipodystrophy, Kobberling type def: "Familial partial lipodystrophy, Kobberling type, is a very rare form of familial partial lipodystrophy (FPLD) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant." [Orphanet:79084] subset: ordo_disease {source="Orphanet:79084"} synonym: "familial partial lipodystrophy type 1" EXACT [Orphanet:79084] synonym: "familial partial lipodystrophy type Köbberling" RELATED [GARD:0012598] synonym: "familial partial lipodystrophy, Köbberling type" RELATED [Orphanet:79084] synonym: "FPLD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608600, Orphanet:79084] synonym: "lipodystrophy, familial partial, Kobberling type" RELATED [OMIM:608600] synonym: "lipodystrophy, familial partial, type 1" RELATED [MONDO:Lexical, OMIM:608600] xref: DOID:0070207 {source="MONDO:equivalentTo"} xref: OMIM:608600 {source="MONDO:equivalentTo", source="Orphanet:79084", source="Orphanet:79084/e"} xref: Orphanet:79084 {source="MONDO:equivalentTo", source="OMIM:608600"} xref: SCTID:725035001 {source="MONDO:equivalentTo"} is_a: MONDO:0020088 {source="DC-OMIM:608600", source="OMIM:608600", source="Orphanet:79084"} ! familial partial lipodystrophy property_value: exactMatch DOID:0070207 property_value: exactMatch http://identifiers.org/snomedct/725035001 property_value: exactMatch https://omim.org/entry/608600 property_value: exactMatch Orphanet:79084 [Term] id: MONDO:0012073 name: ribose-5-P isomerase deficiency def: "Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy." [Orphanet:440706] subset: ordo_disease {source="Orphanet:440706"} synonym: "ribose 5-phosphate isomerase deficiency" RELATED [OMIM:608611] xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563212 {source="MONDO:equivalentTo"} xref: OMIM:608611 {source="Orphanet:440706/e", source="MONDO:equivalentTo", source="Orphanet:440706"} xref: Orphanet:440706 {source="MONDO:equivalentTo"} xref: SCTID:124667004 {source="MONDO:equivalentTo"} xref: UMLS:C1291609 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608611", source="Orphanet:440706"} is_a: MONDO:0019046 {source="Orphanet:440706"} ! leukodystrophy is_a: MONDO:0019231 {source="Orphanet:440706", source="PMID:33340416"} ! inborn disorder of pentose phosphate metabolism property_value: exactMatch http://identifiers.org/mesh/C563212 property_value: exactMatch http://identifiers.org/snomedct/124667004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1291609 property_value: exactMatch https://omim.org/entry/608611 property_value: exactMatch Orphanet:440706 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0012074 name: mandibuloacral dysplasia with type B lipodystrophy subset: gard_rare {source="GARD:0009989"} subset: ordo_clinical_subtype {source="Orphanet:90154"} synonym: "lipodystrophy, type B, associated with Mandibuloacral dysplasia" RELATED [OMIM:608612] synonym: "MADB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608612] synonym: "MANDIBULOACRAL dysplasia with type B lipodystrophy" RELATED [OMIM:608612] synonym: "mandibuloacral dysplasia with type B lipodystrophy" EXACT [MONDO:Lexical, OMIM:608612] xref: DOID:0081129 {source="MONDO:equivalentTo"} xref: MESH:C535706 {source="Orphanet:90154", source="MONDO:equivalentTo", source="Orphanet:90154/e"} xref: OMIM:608612 {source="Orphanet:90154", source="MONDO:equivalentTo", source="Orphanet:90154/e"} xref: Orphanet:90154 {source="OMIM:608612", source="MONDO:equivalentTo"} xref: UMLS:C1837756 {source="OMIM:608612", source="Orphanet:90154", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:90154/e"} is_a: MONDO:0016584 {source="DC-OMIM:608612", source="OMIM:608612", source="Orphanet:90154"} ! mandibuloacral dysplasia is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy property_value: exactMatch DOID:0081129 property_value: exactMatch http://identifiers.org/mesh/C535706 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837756 property_value: exactMatch https://omim.org/entry/608612 property_value: exactMatch Orphanet:90154 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9989/mandibuloacral-dysplasia-with-type-b-lipodystrophy xsd:anyURI {source="GARD:0009989"} [Term] id: MONDO:0012075 name: oligodontia-cancer predisposition syndrome subset: ordo_disease {source="Orphanet:300576"} synonym: "autosomal dominant ectodermal dysplasia-cancer predisposition syndrome" EXACT [Orphanet:300576] synonym: "ODCRCS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608615] synonym: "oligodontia-cancer predisposition syndrome" EXACT [] synonym: "oligodontia-colorectal cancer syndrome" EXACT [MESH:C563898, MONDO:Lexical, OMIM:608615] synonym: "tooth agenesis-colorectal cancer syndrome" EXACT [OMIM:608615] xref: MESH:C563898 {source="MONDO:equivalentTo"} xref: OMIM:608615 {source="Orphanet:300576", source="MONDO:equivalentTo", source="Orphanet:300576/e"} xref: Orphanet:300576 {source="OMIM:608615", source="MONDO:equivalentTo"} xref: UMLS:C1837750 {source="OMIM:608615", source="Orphanet:300576", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0000508 {source="OMIM:608615"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C563898 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837750 property_value: exactMatch https://omim.org/entry/608615 property_value: exactMatch Orphanet:300576 [Term] id: MONDO:0012081 name: 15q11q13 microduplication syndrome def: "The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown." [Orphanet:238446] subset: ordo_malformation_syndrome {source="Orphanet:238446"} subset: predisposition synonym: "15q11-q13 duplication syndrome" EXACT [Orphanet:238446] synonym: "15q11-q13 microduplication syndrome" EXACT [Orphanet:238446] synonym: "15q11q13 duplication syndrome" EXACT [Orphanet:238446] synonym: "autism susceptibility 4" EXACT [OMIM:608636, OMIM:genemap2] synonym: "autism, susceptibility to, 4" RELATED [OMIM:608636] synonym: "chromosome 15q11-q13 DUPLICATION syndrome" RELATED [OMIM:608636] synonym: "chromosome 15Q11.2 Duplication syndrome" RELATED [OMIM:608636] synonym: "dup(15)(q11q13)" EXACT [Orphanet:238446] synonym: "Duplication 15Q11-q13 syndrome" RELATED [OMIM:608636] synonym: "trisomy 15q11-q13" EXACT [Orphanet:238446] synonym: "trisomy 15q11q13" EXACT [Orphanet:238446] xref: NCIT:C126692 {source="MONDO:equivalentTo"} xref: OMIM:608636 {source="Orphanet:238446", source="MONDO:equivalentTo", source="Orphanet:238446/e"} xref: Orphanet:238446 {source="OMIM:608636", source="MONDO:equivalentTo"} xref: SCTID:719427001 {source="MONDO:equivalentTo"} xref: UMLS:C2675336 {source="Orphanet:238446", source="NCIT:C126692", source="OMIM:608636", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4304726 {source="MONDO:equivalentTo"} is_a: MONDO:0016965 {source="Orphanet:238446"} ! partial duplication of the long arm of chromosome 15 relationship: predisposes_towards EFO:0003758 {source="DC-OMIM:608636", source="OMIM:608636"} ! autism property_value: exactMatch http://identifiers.org/snomedct/719427001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675336 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304726 property_value: exactMatch https://omim.org/entry/608636 property_value: exactMatch NCIT:C126692 property_value: exactMatch Orphanet:238446 property_value: excluded_subClassOf MONDO:0002254 {source="NCIT:C126692"} property_value: excluded_subClassOf MONDO:0005027 {source="MONDO:0015652-obsoleted"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012084 name: aromatic L-amino acid decarboxylase deficiency def: "Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction." [Orphanet:35708] subset: gard_rare {source="GARD:0000770"} subset: ordo_disease {source="Orphanet:35708"} synonym: "AADC deficiency" EXACT [DOID:0090123, Orphanet:35708] synonym: "Aadc deficiency" RELATED [OMIM:608643] synonym: "aromatic amino acid decarboxylase deficiency" RELATED [GARD:0000770] synonym: "aromatic L-amino acid decarboxylase deficiency" EXACT [OMIM:608643] synonym: "aromatic L-amino-acid decarboxylase deficiency" EXACT [NCIT:C142085] synonym: "DDC deficiency" RELATED [OMIM:608643] synonym: "Dopa decarboxylase deficiency" RELATED [OMIM:608643] xref: DOID:0090123 {source="MONDO:equivalentTo"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537437 {source="MONDO:equivalentTo"} xref: NCIT:C142085 {source="MONDO:equivalentTo"} xref: OMIM:608643 {source="MONDO:equivalentTo", source="DOID:0090123", source="Orphanet:35708", source="Orphanet:35708/e"} xref: Orphanet:35708 {source="MONDO:equivalentTo", source="DOID:0090123", source="OMIM:608643"} xref: SCTID:237922009 {source="MONDO:equivalentTo"} is_a: MONDO:0017759 {source="Orphanet:35708"} ! disorder of catecholamine synthesis property_value: exactMatch DOID:0090123 property_value: exactMatch http://identifiers.org/mesh/C537437 property_value: exactMatch http://identifiers.org/snomedct/237922009 property_value: exactMatch https://omim.org/entry/608643 property_value: exactMatch NCIT:C142085 property_value: exactMatch Orphanet:35708 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/770/aromatic-l-amino-acid-decarboxylase-deficiency xsd:anyURI {source="GARD:0000770"} [Term] id: MONDO:0012088 name: primary ciliary dyskinesia 5 def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the HYDIN gene." [MONDO:patterns/disease_series_by_gene] synonym: "CILD5" EXACT ABBREVIATION [DOID:0110617, MONDO:Lexical, OMIM:608647] synonym: "ciliary dyskinesia, primary, 5" RELATED [MONDO:Lexical, OMIM:608647] synonym: "ciliary dyskinesia, primary, 5, without situs inversus" RELATED [OMIM:608647] synonym: "ciliary dyskinesia, primary, type 5" EXACT [MONDORULE:1, OMIM:608647] synonym: "HYDIN primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "primary ciliary dyskinesia 5 without situs inversus" EXACT [DOID:0110617] synonym: "primary ciliary dyskinesia caused by mutation in HYDIN" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 5" EXACT [DOID:0110617, MONDORULE:1] xref: DOID:0110617 {source="MONDO:equivalentTo"} xref: MESH:C563886 {source="MONDO:equivalentTo"} xref: OMIM:608647 {source="DOID:0110617", source="MONDO:equivalentTo"} xref: UMLS:C1837615 {source="OMIM:608647", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0016575 {source="DC-OMIM:608647", source="DOID:0110617", source="MESH:C563886", source="MONDO:Redundant", source="OMIM:608647"} ! primary ciliary dyskinesia property_value: exactMatch DOID:0110617 property_value: exactMatch http://identifiers.org/mesh/C563886 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837615 property_value: exactMatch https://omim.org/entry/608647 [Term] id: MONDO:0012089 name: ichthyosis prematurity syndrome def: "Ichthyosis prematurity syndrome is a rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy." [Orphanet:88621] subset: gard_rare {source="GARD:0009886"} subset: ordo_disease {source="Orphanet:88621"} synonym: "congenital ichthyosis type 4" EXACT [Orphanet:88621] synonym: "ichthyosis congenita 4" RELATED [OMIM:608649] synonym: "ichthyosis congenita IV" RELATED [GARD:0009886] synonym: "ichthyosis prematurity syndrome" EXACT [MONDO:Lexical, OMIM:608649] synonym: "ichthyosis-prematurity syndrome" RELATED [Orphanet:88621] synonym: "idiopathic pneumonia syndrome" EXACT [NCIT:C62590] synonym: "IPS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608649, Orphanet:88621] xref: MESH:C536271 {source="Orphanet:88621", source="MONDO:equivalentTo", source="Orphanet:88621/e"} xref: NCIT:C62590 {source="MONDO:equivalentTo"} xref: OMIM:608649 {source="Orphanet:88621", source="MONDO:equivalentTo", source="Orphanet:88621/e"} xref: Orphanet:88621 {source="OMIM:608649", source="MONDO:equivalentTo"} xref: SCTID:12381000132107 {source="MONDO:equivalentTo"} xref: UMLS:C1504431 {source="MONDO:equivalentTo", source="NCIT:C62590"} xref: UMLS:C1837610 {source="Orphanet:88621", source="OMIM:608649", source="MONDO:equivalentTo", source="Orphanet:88621/e", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:1001991 {source="NCIT:C62590"} ! pneumonitis is_a: MONDO:0017270 ! autosomal ichthyosis syndrome property_value: exactMatch http://identifiers.org/mesh/C536271 property_value: exactMatch http://identifiers.org/snomedct/12381000132107 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1504431 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837610 property_value: exactMatch https://omim.org/entry/608649 property_value: exactMatch NCIT:C62590 property_value: exactMatch Orphanet:88621 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9886/ichthyosis-prematurity-syndrome xsd:anyURI {source="GARD:0009886"} [Term] id: MONDO:0012092 name: hereditary sensory and autonomic neuropathy type 5 def: "Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies." [Orphanet:64752] subset: ordo_disease {source="Orphanet:64752"} synonym: "autosomal recessive hereditary sensory and autonomic neuropathy caused by mutation in NGF" EXACT [MONDO:design_pattern] synonym: "congenital insensitivity to pain and thermal analgesia" EXACT [Orphanet:64752] synonym: "hereditary sensory and autonomic neuropathy type V" EXACT [DOID:0070145, Orphanet:64752] synonym: "HSAN 5" RELATED [OMIM:608654] synonym: "HSAN V" RELATED [GARD:0012328] synonym: "HSAN5" EXACT ABBREVIATION [DOID:0070145, MONDO:Lexical, OMIM:608654, Orphanet:64752] synonym: "insensitivity to pain, congenital" RELATED [OMIM:608654] synonym: "neuropathy, hereditary sensory and autonomic, type 5" RELATED [OMIM:608654] synonym: "neuropathy, hereditary sensory and autonomic, type V" RELATED [MONDO:Lexical, OMIM:608654] synonym: "NGF autosomal recessive hereditary sensory and autonomic neuropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070145 {source="MONDO:equivalentTo"} xref: OMIM:608654 {source="Orphanet:64752", source="DOID:0070145", source="MONDO:equivalentTo", source="Orphanet:64752/e"} xref: Orphanet:64752 {source="MONDO:equivalentTo", source="OMIM:608654"} xref: PMID:14976160 {source="DOID:0070145"} xref: PMID:77656 {source="DOID:0070145"} xref: SCTID:128206006 {source="DOID:0070145", source="MONDO:equivalentTo"} is_a: MONDO:0015366 {source="MONDO:Redundant", source="Orphanet:64752"} ! autosomal recessive hereditary sensory and autonomic neuropathy property_value: exactMatch DOID:0070145 property_value: exactMatch http://identifiers.org/snomedct/128206006 property_value: exactMatch https://omim.org/entry/608654 property_value: exactMatch Orphanet:64752 [Term] id: MONDO:0012095 name: intellectual disability-brachydactyly-Pierre Robin syndrome def: "Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness." [Orphanet:364577] subset: ordo_malformation_syndrome {source="Orphanet:364577"} synonym: "ROBIN sequence with distinctive facial appearance and brachydactyly" RELATED [OMIM:608670] xref: MESH:C563880 {source="MONDO:equivalentTo"} xref: OMIM:608670 {source="MONDO:equivalentTo", source="Orphanet:364577", source="Orphanet:364577/e"} xref: Orphanet:364577 {source="MONDO:equivalentTo", source="OMIM:608670"} xref: UMLS:C1837564 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:364577", source="OMIM:608670"} is_a: MONDO:0015159 {source="Orphanet:364577"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0018187 {source="Orphanet:364577", source="Orphanet:364577/inferred"} ! hereditary syndromic Pierre Robin syndrome is_a: MONDO:0018454 ! dysostosis of genetic origin is_a: MONDO:0018751 ! hereditary otorhinolaryngologic disease is_a: MONDO:0019054 ! congenital limb malformation property_value: exactMatch http://identifiers.org/mesh/C563880 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837564 property_value: exactMatch https://omim.org/entry/608670 property_value: exactMatch Orphanet:364577 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:364577"} property_value: excluded_subClassOf MONDO:0015501 {source="MONDO:0015319-obsoleted"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0012096 name: Charcot-Marie-Tooth disease axonal type 2L def: "Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow." [Orphanet:99945] subset: ordo_disease {source="Orphanet:99945"} synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2L" EXACT [DOID:0110174] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2L" EXACT [DOID:0110174] synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB8" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease type 2L" RELATED [GARD:0012432] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2L" RELATED [OMIM:608673] synonym: "Charcot-Marie-Tooth disease, axonal, type 2L" RELATED [MONDO:Lexical, OMIM:608673] synonym: "Charcot-Marie-Tooth neuropathy axonal type 2L" EXACT [DOID:0110174] synonym: "Charcot-Marie-Tooth neuropathy, axonal, type 2L" RELATED [OMIM:608673] synonym: "CMT2L" EXACT ABBREVIATION [DOID:0110174, MONDO:Lexical, OMIM:608673, Orphanet:99945] synonym: "HSPB8 Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110174 {source="MONDO:equivalentTo"} xref: OMIM:608673 {source="MONDO:equivalentTo", source="Orphanet:99945", source="DOID:0110174", source="Orphanet:99945/e"} xref: Orphanet:99945 {source="MONDO:equivalentTo", source="DOID:0110174", source="OMIM:608673"} xref: SCTID:719513008 {source="MONDO:equivalentTo"} xref: UMLS:C1837552 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608673"} xref: UMLS:C4304673 {source="MONDO:equivalentTo"} is_a: MONDO:0018993 {source="DOID:0110174", source="MONDO:Redundant", source="Orphanet:99945"} ! Charcot-Marie-Tooth disease type 2 property_value: exactMatch DOID:0110174 property_value: exactMatch http://identifiers.org/snomedct/719513008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837552 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304673 property_value: exactMatch https://omim.org/entry/608673 property_value: exactMatch Orphanet:99945 [Term] id: MONDO:0012098 name: spinocerebellar ataxia type 20 def: "Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar dysarthria as the initial typical manifestation." [Orphanet:101110] subset: ordo_disease {source="Orphanet:101110"} synonym: "chromosome 11q12 duplication syndrome, 260-Kb" RELATED [OMIM:608687] synonym: "SCA20" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608687, Orphanet:101110] synonym: "spinocerebellar ataxia 20" RELATED [MONDO:Lexical, OMIM:608687] synonym: "spinocerebellar ataxia type 20" EXACT [MONDORULE:2, OMIM:608687] synonym: "spinocerebellar ataxia with dysphonia" RELATED [OMIM:608687] synonym: "spinocerebellar ataxia with spasmodic cough" RELATED [OMIM:608687] xref: DOID:0050971 {source="MONDO:equivalentTo"} xref: MESH:C537199 {source="Orphanet:101110", source="MONDO:equivalentTo", source="Orphanet:101110/e"} xref: OMIM:608687 {source="Orphanet:101110", source="DOID:0050971", source="MONDO:equivalentTo", source="Orphanet:101110/e"} xref: Orphanet:101110 {source="MONDO:equivalentTo", source="OMIM:608687"} xref: SCTID:718771009 {source="MONDO:equivalentTo"} xref: UMLS:C1837541 {source="Orphanet:101110", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:101110/e", source="OMIM:608687"} is_a: MONDO:0019792 {source="Orphanet:101110"} ! autosomal dominant cerebellar ataxia type I property_value: exactMatch DOID:0050971 property_value: exactMatch http://identifiers.org/mesh/C537199 property_value: exactMatch http://identifiers.org/snomedct/718771009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837541 property_value: exactMatch https://omim.org/entry/608687 property_value: exactMatch Orphanet:101110 [Term] id: MONDO:0012099 name: AICA-ribosiduria def: "AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness." [Orphanet:250977] subset: ordo_disease {source="Orphanet:250977"} synonym: "5-amino-4-imidazole carboxamide ribosiduria" EXACT [Orphanet:250977] synonym: "AICA-ribosiduria due to ATIC deficiency" EXACT [OMIM:608688, OMIM:genemap2] synonym: "Aica-Ribosuria due to Atic deficiency" RELATED [OMIM:608688] synonym: "AICAR transformylase/IMP cyclohydrolase deficiency" RELATED [OMIM:608688] synonym: "ATIC deficiency" EXACT [Orphanet:250977] synonym: "Atic deficiency" RELATED [OMIM:608688] xref: MESH:C563876 {source="MONDO:equivalentTo"} xref: OMIM:608688 {source="Orphanet:250977/e", source="MONDO:equivalentTo", source="Orphanet:250977"} xref: Orphanet:250977 {source="MONDO:equivalentTo", source="OMIM:608688"} xref: SCTID:725289009 {source="MONDO:equivalentTo"} xref: UMLS:C1837530 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608688", source="Orphanet:250977"} xref: UMLS:C4510943 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:250977"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0019236 {source="Orphanet:250977"} ! inborn disorder of purine metabolism is_a: MONDO:0020242 {source="Orphanet:250977"} ! hereditary macular dystrophy property_value: exactMatch http://identifiers.org/mesh/C563876 property_value: exactMatch http://identifiers.org/snomedct/725289009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837530 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510943 property_value: exactMatch https://omim.org/entry/608688 property_value: exactMatch Orphanet:250977 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:250977", source="Orphanet:250977/inferred"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0012103 name: spinocerebellar ataxia type 25 def: "Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia and prominent sensory neuropathy." [Orphanet:101111] subset: ordo_disease {source="Orphanet:101111"} synonym: "SCA25" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608703, Orphanet:101111] synonym: "spinocerebellar ataxia 25" RELATED [MONDO:Lexical, OMIM:608703] xref: DOID:0050974 {source="MONDO:equivalentTo"} xref: MESH:C537202 {source="Orphanet:101111", source="MONDO:equivalentTo", source="Orphanet:101111/e"} xref: OMIM:608703 {source="Orphanet:101111", source="MONDO:equivalentTo", source="Orphanet:101111/e", source="DOID:0050974"} xref: Orphanet:101111 {source="OMIM:608703", source="MONDO:equivalentTo"} xref: SCTID:718770005 {source="MONDO:equivalentTo"} xref: UMLS:C1837518 {source="Orphanet:101111", source="OMIM:608703", source="MONDO:equivalentTo", source="Orphanet:101111/e", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019792 {source="Orphanet:101111"} ! autosomal dominant cerebellar ataxia type I property_value: exactMatch DOID:0050974 property_value: exactMatch http://identifiers.org/mesh/C537202 property_value: exactMatch http://identifiers.org/snomedct/718770005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837518 property_value: exactMatch https://omim.org/entry/608703 property_value: exactMatch Orphanet:101111 [Term] id: MONDO:0012104 name: acquired partial lipodystrophy def: "A lipodystrophy characterized by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs." [Orphanet:79087] subset: ordo_disease {source="Orphanet:79087"} synonym: "acquired partial lipodystrophy" EXACT [MONDO:patterns/acquired] synonym: "APLD" EXACT ABBREVIATION [MONDO:Lexical] synonym: "APLD, susceptibility to" RELATED [OMIM:608709] synonym: "Barraquer-Simons syndrome" EXACT [Orphanet:79087] synonym: "lipodystophy partial progressive" RELATED [GARD:0010509] synonym: "lipodystrophy cephalothoracic type" RELATED [GARD:0010509] synonym: "lipodystrophy partial acquired" RELATED [GARD:0010509] synonym: "lipodystrophy, cephalothoracic type" RELATED [OMIM:608709] synonym: "lipodystrophy, partial, acquired, susceptibility to" RELATED [MONDO:Lexical, OMIM:608709] synonym: "lipodystrophy, partial, progressive" RELATED [OMIM:608709] synonym: "partial acquired lipodystrophy" EXACT [NCIT:C129723] synonym: "progressive cephalothoracic lipodystrophy" EXACT [Orphanet:79087] synonym: "susceptibility to partial acquired lipodystrophy" RELATED [OMIM:608709] xref: MESH:C562448 {source="MONDO:equivalentTo"} xref: NCIT:C129723 {source="MONDO:equivalentTo"} xref: Orphanet:79087 {source="MONDO:equivalentTo", source="OMIM:608709"} xref: SCTID:75659004 {source="MONDO:equivalentTo"} xref: UMLS:C0220989 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608709", source="Orphanet:79087", source="NCIT:C129723", source="Orphanet:79087/e"} is_a: MONDO:0020089 {source="MONDO:Redundant", source="Orphanet:79087"} ! acquired lipodystrophy is_a: MONDO:0027767 {source="MONDO:Redundant", source="NCIT:C129723"} ! partial lipodystrophy intersection_of: MONDO:0027767 ! partial lipodystrophy intersection_of: has_characteristic MONDO:0021141 ! acquired property_value: exactMatch http://identifiers.org/mesh/C562448 property_value: exactMatch http://identifiers.org/snomedct/75659004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220989 property_value: exactMatch NCIT:C129723 property_value: exactMatch Orphanet:79087 property_value: excluded_subClassOf MONDO:0015333 {source="Orphanet:79087"} property_value: excluded_subClassOf MONDO:0021106 {source="Wikipedia:Laminopathy"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1567 xsd:anyURI [Term] id: MONDO:0012108 name: spondyloepimetaphyseal dysplasia, matrilin-3 type def: "A spondyloepimetaphyseal dysplasia characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands." [https://orcid.org/0000-0001-5208-3432, Orphanet:156728] subset: ordo_disease {source="Orphanet:156728"} synonym: "SEMD MATN3-related" RELATED [GARD:0010611] synonym: "SEMD, MATN3-related" EXACT [OMIM:608728, Orphanet:156728] synonym: "SEMD, matrilin-3 type" EXACT [Orphanet:156728] synonym: "spondyloepimetaphyseal dysplasia matrilin-3 related" RELATED [GARD:0010611] synonym: "spondyloepimetaphyseal dysplasia matrilin-3 type" RELATED [GARD:0010611] synonym: "spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type" EXACT [OMIM:608728, OMIM:genemap2] synonym: "spondyloepimetaphyseal dysplasia, matrilin-3 related" RELATED [OMIM:608728] xref: MESH:C563869 {source="MONDO:equivalentTo"} xref: OMIM:608728 {source="Orphanet:156728/e", source="MONDO:equivalentTo", source="Orphanet:156728"} xref: Orphanet:156728 {source="MONDO:equivalentTo", source="OMIM:608728"} xref: SCTID:719166003 {source="MONDO:equivalentTo"} xref: UMLS:C1837481 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608728", source="Orphanet:156728"} is_a: MONDO:0100510 {source="PMID:31633310", source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia property_value: exactMatch http://identifiers.org/mesh/C563869 property_value: exactMatch http://identifiers.org/snomedct/719166003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837481 property_value: exactMatch https://omim.org/entry/608728 property_value: exactMatch Orphanet:156728 property_value: excluded_subClassOf MONDO:0016761 {source="DC-OMIM:608728", source="Orphanet:156728"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5280 xsd:anyURI [Term] id: MONDO:0012110 name: growth delay due to insulin-like growth factor type 1 deficiency def: "Growth delay due to insulin-like growth factor I deficiency is characterized by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit." [Orphanet:73272] subset: ordo_disease {source="Orphanet:73272"} synonym: "growth delay-deafness- intellectual disability syndrome" EXACT [Orphanet:73272] synonym: "growth retardation with deafness and mental retardation due to IGF1 deficiency" EXACT [OMIM:608747, OMIM:genemap2] synonym: "growth retardation with sensorineural deafness and intellectual disability" RELATED [OMIM:608747] synonym: "growth retardation with sensorineural deafness and mental retardation" RELATED DEPRECATED [OMIM:608747] synonym: "IGF-1 deficiency" EXACT [Orphanet:73272] synonym: "IGF1 deficiency" RELATED [OMIM:608747] synonym: "insulin-like growth Factor 1 deficiency" RELATED [OMIM:608747] synonym: "insulin-like growth factor I deficiency" RELATED [OMIM:608747] synonym: "primary insulin-like growth factor deficiency" EXACT [Orphanet:73272] xref: MESH:C563867 {source="MONDO:equivalentTo"} xref: OMIM:608747 {source="Orphanet:73272/e", source="MONDO:equivalentTo", source="Orphanet:73272"} xref: Orphanet:73272 {source="OMIM:608747", source="MONDO:equivalentTo"} xref: SCTID:724385009 {source="MONDO:equivalentTo"} xref: UMLS:C1837475 {source="OMIM:608747", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:73272"} xref: UMLS:C4518327 {source="MONDO:equivalentTo"} is_a: MONDO:0015892 {source="Orphanet:73272"} ! growth hormone insensitivity syndrome property_value: exactMatch http://identifiers.org/mesh/C563867 property_value: exactMatch http://identifiers.org/snomedct/724385009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837475 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518327 property_value: exactMatch https://omim.org/entry/608747 property_value: exactMatch Orphanet:73272 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012112 name: hypertrophic cardiomyopathy 10 def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "cardiomyopathy, familial hypertrophic, 10" EXACT [DOID:0110316, MONDO:Lexical, OMIM:608758] synonym: "cardiomyopathy, familial hypertrophic, type 10" EXACT [MONDORULE:2, OMIM:608758] synonym: "cardiomyopathy, hypertrophic, 10" EXACT [OMIM:608758, OMIM:genemap2] synonym: "cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 2" RELATED [OMIM:608758] synonym: "CMH10" EXACT ABBREVIATION [DOID:0110316, MONDO:Lexical, OMIM:608758] synonym: "hypertrophic cardiomyopathy 10" EXACT [] synonym: "hypertrophic cardiomyopathy caused by mutation in MYL2" EXACT [MONDO:design_pattern] synonym: "hypertrophic cardiomyopathy type 10" EXACT [DOID:0110316, MONDORULE:2] synonym: "MYL2 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110316 {source="MONDO:equivalentTo"} xref: MESH:C563865 {source="MONDO:equivalentTo"} xref: OMIM:608758 {source="DOID:0110316", source="MONDO:equivalentTo"} xref: UMLS:C1834460 {source="OMIM:608758", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0024573 {source="MESH:C563865", source="MONDO:OMIM", source="OMIM:608758"} ! familial hypertrophic cardiomyopathy property_value: exactMatch DOID:0110316 property_value: exactMatch http://identifiers.org/mesh/C563865 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834460 property_value: exactMatch https://omim.org/entry/608758 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012116 name: spinocerebellar ataxia type 8 def: "Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." [Orphanet:98760] subset: ordo_disease {source="Orphanet:98760"} synonym: "SCA8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608768, Orphanet:98760] synonym: "spinocerebellar ataxia 8" RELATED [MONDO:Lexical, OMIM:608768] synonym: "spinocerebellar ataxia type 8" EXACT [MONDORULE:1, OMIM:608768] xref: DOID:0050959 {source="MONDO:equivalentTo"} xref: OMIM:608768 {source="Orphanet:98760/e", source="MONDO:equivalentTo", source="DOID:0050959", source="Orphanet:98760"} xref: Orphanet:98760 {source="OMIM:608768", source="MONDO:equivalentTo"} xref: SCTID:715753001 {source="MONDO:equivalentTo"} xref: UMLS:C1837454 {source="OMIM:608768", source="Orphanet:98760/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:98760"} xref: UMLS:C4275024 {source="MONDO:equivalentObsolete"} is_a: MONDO:0019792 {source="Orphanet:98760"} ! autosomal dominant cerebellar ataxia type I property_value: exactMatch DOID:0050959 property_value: exactMatch http://identifiers.org/snomedct/715753001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837454 property_value: exactMatch https://omim.org/entry/608768 property_value: exactMatch Orphanet:98760 [Term] id: MONDO:0012117 name: ALG9-congenital disorder of glycosylation def: "A form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23)." [Orphanet:79328] subset: ordo_disease {source="Orphanet:79328"} synonym: "ALG9-CDG" EXACT ABBREVIATION [Orphanet:79328] synonym: "ALG9-CDG (CDG-IL)" RELATED [GARD:0009839] synonym: "ALG9-congenital disorder of glycosylation" EXACT [] synonym: "carbohydrate deficient glycoprotein syndrome type 1L" EXACT [Orphanet:79328] synonym: "carbohydrate deficient glycoprotein syndrome type IL" RELATED [GARD:0009839] synonym: "CDG 1L" RELATED [GARD:0009839] synonym: "CDG IL" RELATED [OMIM:608776] synonym: "CDG syndrome type IL" EXACT [Orphanet:79328] synonym: "CDG-IL" EXACT [Orphanet:79328] synonym: "CDG1L" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608776, Orphanet:79328] synonym: "congenital disorder of glycosylation type 1L" EXACT [Orphanet:79328] synonym: "congenital disorder of glycosylation type IL" RELATED [GARD:0009839] synonym: "congenital disorder of glycosylation, type IL" RELATED [MONDO:Lexical, OMIM:608776] synonym: "mannosyltransferase 7-9 deficiency" EXACT [Orphanet:79328] xref: DOID:0080564 {source="MONDO:equivalentTo"} xref: MESH:C535750 {source="MONDO:equivalentTo"} xref: OMIM:608776 {source="Orphanet:79328", source="MONDO:equivalentTo", source="Orphanet:79328/e"} xref: Orphanet:79328 {source="MONDO:equivalentTo", source="OMIM:608776"} xref: SCTID:720978005 {source="MONDO:equivalentTo"} xref: UMLS:C2931006 {source="Orphanet:79328", source="MONDO:equivalentTo", source="OMIM:608776"} is_a: EFO:0005545 {source="DC-OMIM:608776"} ! congenital disorder of glycosylation type I is_a: MONDO:0017740 {source="Orphanet:79328"} ! disorder of protein N-glycosylation relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch DOID:0080564 property_value: exactMatch http://identifiers.org/mesh/C535750 property_value: exactMatch http://identifiers.org/snomedct/720978005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931006 property_value: exactMatch https://omim.org/entry/608776 property_value: exactMatch Orphanet:79328 [Term] id: MONDO:0012118 name: COG7-congenital disorder of glycosylation def: "COG7-CDG is a congenital disorder of glycosylation characterized by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex." [Orphanet:79333] subset: ordo_disease {source="Orphanet:79333"} synonym: "carbohydrate deficient glycoprotein syndrome type IIe" EXACT [Orphanet:79333] synonym: "CDG 2E" RELATED [GARD:0009842] synonym: "CDG IIe" RELATED [OMIM:608779] synonym: "CDG syndrome type IIe" EXACT [Orphanet:79333] synonym: "CDG-IIe" EXACT [Orphanet:79333] synonym: "CDG2E" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608779, Orphanet:79333] synonym: "COG7-CDG" EXACT ABBREVIATION [Orphanet:79333] synonym: "COG7-CDG (CDG-IIe)" RELATED [GARD:0009842] synonym: "COG7-congenital disorder of glycosylation" EXACT [] synonym: "congenital disorder of glycosylation type 2e" EXACT [Orphanet:79333] synonym: "congenital disorder of glycosylation type IIe" EXACT [Orphanet:79333] synonym: "congenital disorder of glycosylation, type IIe" RELATED [MONDO:Lexical, OMIM:608779] xref: MESH:C535754 {source="MONDO:equivalentTo"} xref: OMIM:608779 {source="Orphanet:79333/e", source="MONDO:equivalentTo", source="Orphanet:79333"} xref: Orphanet:79333 {source="OMIM:608779", source="MONDO:equivalentTo"} xref: SCTID:717773005 {source="MONDO:equivalentTo"} is_a: EFO:0005546 {source="DC-OMIM:608779", source="OMIM:608779"} ! congenital disorder of glycosylation type II is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0017750 {source="Orphanet:79333"} ! defect in conserved oligomeric Golgi complex relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch http://identifiers.org/mesh/C535754 property_value: exactMatch http://identifiers.org/snomedct/717773005 property_value: exactMatch https://omim.org/entry/608779 property_value: exactMatch Orphanet:79333 property_value: excluded_subClassOf MONDO:0005093 property_value: excluded_subClassOf MONDO:0005267 {source="MONDO:0018290-obsoleted"} property_value: excluded_subClassOf MONDO:0015286 [Term] id: MONDO:0012120 name: pyruvate dehydrogenase phosphatase deficiency def: "Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period." [Orphanet:79246] subset: gard_rare {source="GARD:0009888"} subset: ordo_clinical_subtype {source="Orphanet:79246"} synonym: "lactic acidemia with pyruvate dehydrogenase phosphatase deficiency" RELATED [OMIM:608782] synonym: "PDH phosphatase deficiency" EXACT [Orphanet:79246] synonym: "PDHPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608782] synonym: "pyruvate dehydrogenase phosphatase deficiency" EXACT [MONDO:Lexical, OMIM:608782] xref: MESH:C536258 {source="Orphanet:79246/e", source="MONDO:equivalentTo", source="Orphanet:79246"} xref: OMIM:608782 {source="Orphanet:79246/e", source="MONDO:equivalentTo", source="Orphanet:79246"} xref: Orphanet:79246 {source="MONDO:equivalentTo", source="OMIM:608782"} xref: UMLS:C1837429 {source="Orphanet:79246/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608782", source="Orphanet:79246"} is_a: MONDO:0019169 {source="DC-OMIM:608782", source="OMIM:608782", source="Orphanet:79246"} ! pyruvate dehydrogenase deficiency property_value: exactMatch http://identifiers.org/mesh/C536258 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837429 property_value: exactMatch https://omim.org/entry/608782 property_value: exactMatch Orphanet:79246 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9888/pyruvate-dehydrogenase-phosphatase-deficiency xsd:anyURI {source="GARD:0009888"} [Term] id: MONDO:0012123 name: congenital disorder of glycosylation type 1E def: "The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common." [Orphanet:79322] subset: ordo_disease {source="Orphanet:79322"} synonym: "carbohydrate deficient glycoprotein syndrome type Ie" EXACT [Orphanet:79322] synonym: "carbohydrate-deficient glycoprotein syndrome type 1E" RELATED [GARD:0009831] synonym: "CDG 1E" RELATED [GARD:0009831] synonym: "CDG Ie" RELATED [OMIM:608799] synonym: "CDG syndrome type Ie" EXACT [Orphanet:79322] synonym: "CDG-Ie" EXACT [Orphanet:79322] synonym: "CDG1E" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608799, Orphanet:79322] synonym: "CDGIe" EXACT [NCIT:C126871] synonym: "congenital disorder of glycosylation caused by mutation in DPM1" EXACT [MONDO:design_pattern] synonym: "congenital disorder of glycosylation type 1E" EXACT [] synonym: "congenital disorder of glycosylation type 1e" EXACT [Orphanet:79322] synonym: "congenital disorder of glycosylation type Ie" EXACT [Orphanet:79322] synonym: "congenital disorder of glycosylation, type Ie" RELATED [MONDO:Lexical, OMIM:608799] synonym: "Dol-P-mannosyltransferase deficiency" EXACT [Orphanet:79322] synonym: "DPM1 congenital disorder of glycosylation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "DPM1-CDG" RELATED [Orphanet:79322] synonym: "DPM1-CDG (CDG-Ie)" RELATED [GARD:0009831] xref: DOID:0080557 {source="MONDO:equivalentTo"} xref: MESH:C535743 {source="MONDO:equivalentTo"} xref: NCIT:C126871 {source="MONDO:equivalentTo"} xref: OMIM:608799 {source="Orphanet:79322/e", source="MONDO:equivalentTo", source="Orphanet:79322"} xref: Orphanet:79322 {source="OMIM:608799", source="MONDO:equivalentTo"} xref: SCTID:725078006 {source="MONDO:equivalentTo"} is_a: EFO:0005545 {source="DC-OMIM:608799"} ! congenital disorder of glycosylation type I is_a: MONDO:0017749 {source="Orphanet:79322"} ! disorder of multiple glycosylation property_value: exactMatch DOID:0080557 property_value: exactMatch http://identifiers.org/mesh/C535743 property_value: exactMatch http://identifiers.org/snomedct/725078006 property_value: exactMatch https://omim.org/entry/608799 property_value: exactMatch NCIT:C126871 property_value: exactMatch Orphanet:79322 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0012124 name: sudden infant death-dysgenesis of the testes syndrome def: "Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes." [Orphanet:168593] subset: ordo_malformation_syndrome {source="Orphanet:168593"} synonym: "SIDDT" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608800, Orphanet:168593] synonym: "sudden infant death - dysgenesis of the testes" RELATED [GARD:0012382] synonym: "sudden infant death with dysgenesis of the testes syndrome" RELATED [MONDO:Lexical, OMIM:608800] xref: MESH:C563856 {source="MONDO:equivalentTo"} xref: OMIM:608800 {source="Orphanet:168593/e", source="MONDO:equivalentTo", source="Orphanet:168593"} xref: Orphanet:168593 {source="OMIM:608800", source="MONDO:equivalentTo"} xref: UMLS:C1837371 {source="OMIM:608800", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:168593"} is_a: EFO:0000684 {source="MONDO:Redundant", source="Orphanet:168593"} ! respiratory system disease is_a: MONDO:0020040 ! 46,XY disorder of sex development relationship: has_characteristic MONDO:0021136 {source="MONDO:0015510"} ! rare property_value: exactMatch http://identifiers.org/mesh/C563856 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837371 property_value: exactMatch https://omim.org/entry/608800 property_value: exactMatch Orphanet:168593 [Term] id: MONDO:0012125 name: hypomyelinating leukodystrophy 2 def: "Any leukodystrophy in which the cause of the disease is a mutation in the GJC2 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_clinical_subtype {source="Orphanet:280282"} synonym: "GJC2 leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "HLD2" EXACT ABBREVIATION [DOID:0060787, MONDO:Lexical, OMIM:608804] synonym: "hypomyelinating leukodystrophy type 2" EXACT [DOID:0060787, MONDORULE:1] synonym: "leukodystrophy caused by mutation in GJC2" EXACT [MONDO:design_pattern] synonym: "leukodystrophy, hypomyelinating, 2" RELATED [MONDO:Lexical, OMIM:608804] synonym: "leukodystrophy, hypomyelinating, type 2" EXACT [MONDORULE:1, OMIM:608804] synonym: "Pelizaeus-Merzbacher-like disease 1" EXACT [DOID:0060787] synonym: "Pelizaeus-Merzbacher-like disease due to GJC2 mutation" EXACT [DOID:0060787] synonym: "Pelizaeus-Merzbacher-like disease, 1" RELATED [OMIM:608804] synonym: "PMLD1" EXACT ABBREVIATION [DOID:0060787, Orphanet:280282] xref: DOID:0060787 {source="MONDO:equivalentTo"} xref: MESH:C563855 {source="MONDO:equivalentTo"} xref: OMIM:608804 {source="Orphanet:280282", source="DOID:0060787", source="MONDO:equivalentTo", source="Orphanet:280282/e"} xref: Orphanet:280282 {source="OMIM:608804", source="DOID:0060787", source="MONDO:equivalentTo"} xref: UMLS:C1837355 {source="OMIM:608804", source="Orphanet:280282", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0017226 {source="Orphanet:280282"} ! Pelizaeus-Merzbacher-like disease property_value: exactMatch DOID:0060787 property_value: exactMatch http://identifiers.org/mesh/C563855 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837355 property_value: exactMatch https://omim.org/entry/608804 property_value: exactMatch Orphanet:280282 [Term] id: MONDO:0012126 name: familial avascular necrosis of femoral head def: "Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterized by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty." [Orphanet:86820] subset: gard_rare {source="GARD:0010914"} subset: ordo_disease {source="Orphanet:86820"} subset: prototype_pattern synonym: "ANFH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608805] synonym: "ANFH1" RELATED ABBREVIATION [OMIM:608805] synonym: "aseptic Necrosis of femoral head" EXACT [NCIT:C35480] synonym: "aseptic Necrosis of head of femur" EXACT [NCIT:C35480] synonym: "avascular NECROSIS of femoral head, primary" RELATED [MONDO:Lexical, OMIM:608805] synonym: "avascular NECROSIS of femoral head, primary, 1" RELATED [OMIM:608805] synonym: "avascular Necrosis of femoral head, primary, 1" RELATED [OMIM:608805] synonym: "familial avascular necrosis of the femoral head" RELATED [GARD:0010914] synonym: "familial osteonecrosis of the femoral head" EXACT [Orphanet:86820] synonym: "femoral head, aseptic Necrosis of" RELATED [OMIM:608805] synonym: "femoral head, avascular Necrosis of" RELATED [OMIM:608805] synonym: "ischaemic Necrosis of femoral head" RELATED OMO:0003005 [] synonym: "ischemic Necrosis of femoral head" RELATED [OMIM:608805] synonym: "osteonecrosis of femoral head" RELATED [OMIM:608805] synonym: "primary avascular necrosis of the femoral head" RELATED [GARD:0010914] xref: MESH:D005271 {source="MONDO:equivalentTo"} xref: NCIT:C35480 {source="MONDO:equivalentTo"} xref: OMIMPS:608805 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:86820 {source="MONDO:equivalentTo", source="OMIM:608805"} xref: SCTID:715657008 {source="MONDO:equivalentTo"} xref: UMLS:CN206226 {source="MONDO:equivalentTo"} is_a: MONDO:0018379 {source="Orphanet:86820"} ! primary avascular necrosis is_a: MONDO:0018384 {source="MONDO:Redundant", source="Orphanet:86820"} ! avascular necrosis of genetic origin property_value: exactMatch http://identifiers.org/mesh/D005271 property_value: exactMatch http://identifiers.org/snomedct/715657008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206226 property_value: exactMatch https://omim.org/phenotypicSeries/PS608805 property_value: exactMatch NCIT:C35480 property_value: exactMatch Orphanet:86820 property_value: excluded_subClassOf MONDO:0019686 {source="Orphanet:86820"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10914/familial-avascular-necrosis-of-the-femoral-head xsd:anyURI {source="GARD:0010914"} [Term] id: MONDO:0012127 name: autosomal recessive limb-girdle muscular dystrophy type 2J def: "Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset." [Orphanet:140922] subset: ordo_disease {source="Orphanet:140922"} synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TTN" EXACT [MONDO:design_pattern] synonym: "LGMD2J" EXACT ABBREVIATION [DOID:0110283, MONDO:Lexical, OMIM:608807, Orphanet:140922] synonym: "limb-girdle muscular dystrophy type 2J" RELATED [GARD:0012534] synonym: "muscular dystrophy, limb-girdle, autosomal recessive 10" EXACT [OMIM:608807, OMIM:genemap2] synonym: "muscular dystrophy, limb-girdle, type 2J" EXACT [DOID:0110283, MONDO:Lexical, OMIM:608807] synonym: "TTN autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110283 {source="MONDO:equivalentTo"} xref: MESH:C563854 {source="MONDO:equivalentTo"} xref: OMIM:608807 {source="Orphanet:140922/e", source="MONDO:equivalentTo", source="DOID:0110283", source="Orphanet:140922"} xref: Orphanet:140922 {source="MONDO:equivalentTo", source="DOID:0110283", source="OMIM:608807"} xref: UMLS:C1837342 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608807", source="Orphanet:140922"} is_a: MONDO:0015152 {source="DOID:0110283", source="MONDO:Redundant", source="OMIM:608807", source="Orphanet:140922"} ! autosomal recessive limb-girdle muscular dystrophy is_a: MONDO:0100493 {source="https://clinicalgenome.org/affiliation/40031/"} ! autosomal recessive titinopathy property_value: exactMatch DOID:0110283 property_value: exactMatch http://identifiers.org/mesh/C563854 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837342 property_value: exactMatch https://omim.org/entry/608807 property_value: exactMatch Orphanet:140922 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012130 name: myofibrillar myopathy 2 def: "Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:399058"} synonym: "alpha-B crystallin-related late-onset distal myopathy" RELATED [Orphanet:399058] synonym: "alpha-B crystallinopathy" EXACT [DOID:0080093] synonym: "autosomal dominant distal myopathy caused by mutation in CRYAB" EXACT [MONDO:design_pattern] synonym: "CRYAB autosomal dominant distal myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "late-onset distal crystallinopathy" EXACT [Orphanet:399058] synonym: "MFM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608810] synonym: "myofibrillar myopathy type 2" EXACT [DOID:0080093, MONDORULE:1] synonym: "myopathy, desmin-related, associated with mutation in the Cryab Gene" RELATED [OMIM:608810] synonym: "myopathy, myofibrillar, 2" RELATED [MONDO:Lexical, OMIM:608810] synonym: "myopathy, myofibrillar, alpha-B crystallin-related" RELATED [OMIM:608810] synonym: "myopathy, myofibrillar, type 2" EXACT [MONDORULE:1, OMIM:608810] synonym: "myopathy, myofibrillar, with or without cataract and/or cardiomyopathy" RELATED [OMIM:608810] xref: DOID:0080093 {source="MONDO:equivalentTo"} xref: MESH:C563848 {source="MONDO:equivalentTo"} xref: OMIM:608810 {source="Orphanet:399058", source="MONDO:equivalentTo", source="Orphanet:399058/e", source="DOID:0080093"} xref: Orphanet:399058 {source="MONDO:equivalentTo"} xref: UMLS:C1837317 {source="OMIM:608810", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0016108 {source="MONDO:Redundant", source="Orphanet:399058"} ! autosomal dominant distal myopathy is_a: MONDO:0020343 {source="Orphanet:399058"} ! alpha-crystallinopathy property_value: exactMatch DOID:0080093 property_value: exactMatch http://identifiers.org/mesh/C563848 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837317 property_value: exactMatch https://omim.org/entry/608810 property_value: exactMatch Orphanet:399058 [Term] id: MONDO:0012132 name: colorectal cancer, susceptibility to, 1 def: "Any colorectal cancer in which the cause of the disease is a mutation in the GALNT12 gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition synonym: "colorectal adenoma and cancer, susceptibility to" RELATED [OMIM:608812] synonym: "colorectal cancer caused by mutation in GALNT12" EXACT [MONDO:design_pattern] synonym: "colorectal cancer, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:608812] synonym: "colorectal cancer, susceptibility to, on chromosome 9" RELATED [OMIM:608812] synonym: "colorectal cancer, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:608812] synonym: "CRCS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608812] synonym: "GALNT12 colorectal cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "susceptibility to colorectal cancer 1" RELATED [OMIM:608812] xref: OMIM:608812 {source="MONDO:equivalentTo"} is_a: MONDO:0020573 ! inherited disease susceptibility relationship: predisposes_towards MONDO:0005575 ! colorectal cancer property_value: exactMatch https://omim.org/entry/608812 [Term] id: MONDO:0012136 name: carnitine palmitoyl transferase II deficiency, neonatal form def: "The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure." [Orphanet:228308] subset: ordo_clinical_subtype {source="Orphanet:228308"} synonym: "Carnitine palmitoyl transferase deficiency type 2, lethal systemic form" EXACT [Orphanet:228308] synonym: "Carnitine palmitoyl transferase deficiency type 2, neonatal form" EXACT [Orphanet:228308] synonym: "Carnitine palmitoyl transferase II deficiency, lethal systemic form" EXACT [Orphanet:228308] synonym: "carnitine palmitoyl transferase II deficiency, neonatal form" EXACT [] synonym: "Carnitine Palmitoyltransferase 2 deficiency, antenatal" RELATED [OMIM:608836] synonym: "Carnitine Palmitoyltransferase 2 deficiency, lethal neonatal" RELATED [OMIM:608836] synonym: "Carnitine Palmitoyltransferase 2 deficiency, neonatal" RELATED [OMIM:608836] synonym: "CARNITINE PALMITOYLTRANSFERASE II deficiency, lethal neonatal" RELATED [OMIM:608836] synonym: "CPT 2 deficiency, lethal neonatal" RELATED [OMIM:608836] synonym: "CPT II deficiency, lethal neonatal" EXACT [OMIM:608836, OMIM:genemap2] synonym: "Cpt2 deficiency, lethal neonatal" RELATED [OMIM:608836] synonym: "CPT2, lethal systemic form" EXACT [Orphanet:228308] synonym: "CPT2, neonatal form" EXACT [Orphanet:228308] synonym: "CPTII, lethal systemic form" EXACT [Orphanet:228308] synonym: "CPTII, neonatal form" EXACT [Orphanet:228308] xref: MESH:C563463 {source="MONDO:equivalentTo"} xref: OMIM:608836 {source="Orphanet:228308", source="MONDO:equivalentTo", source="Orphanet:228308/e"} xref: Orphanet:228308 {source="OMIM:608836", source="MONDO:equivalentTo"} xref: UMLS:C1833518 {source="Orphanet:228308", source="OMIM:608836", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015515 {source="DC-OMIM:608836", source="Orphanet:228308"} ! carnitine palmitoyltransferase II deficiency property_value: exactMatch http://identifiers.org/mesh/C563463 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833518 property_value: exactMatch https://omim.org/entry/608836 property_value: exactMatch Orphanet:228308 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012137 name: Carney complex - trismus - pseudocamptodactyly syndrome def: "Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities)." [Orphanet:319340] subset: ordo_disease {source="Orphanet:319340"} synonym: "CARNEY complex variant" RELATED [OMIM:608837] synonym: "Carney complex variant" EXACT [Orphanet:319340] xref: OMIM:608837 {source="MONDO:equivalentTo", source="Orphanet:319340", source="Orphanet:319340/e"} xref: Orphanet:319340 {source="OMIM:608837", source="MONDO:equivalentTo"} is_a: MONDO:0015285 {source="DC-OMIM:608837"} ! Carney complex is_a: MONDO:0016432 {source="Orphanet:319340"} ! heart-hand syndrome property_value: exactMatch https://omim.org/entry/608837 property_value: exactMatch Orphanet:319340 [Term] id: MONDO:0012138 name: muscular dystrophy-dystroglycanopathy type B6 def: "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12." [DOID:0110637, PMID:12966029, PMID:19067344] synonym: "congenital muscular dystrophy large-related" EXACT [DOID:0110637] synonym: "congenital muscular dystrophy type 1D" EXACT [DOID:0110637] synonym: "MDC1D" EXACT ABBREVIATION [DOID:0110637] synonym: "MDDGB6" EXACT ABBREVIATION [DOID:0110637, MONDO:Lexical, OMIM:608840] synonym: "muscular dystrophy, congenital, large-related" RELATED [OMIM:608840] synonym: "muscular dystrophy, congenital, type 1D" RELATED [OMIM:608840] synonym: "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 6" EXACT [DOID:0110637, MONDO:Lexical, OMIM:608840] synonym: "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6" EXACT DEPRECATED [DOID:0110637, MONDO:Lexical, OMIM:608840] xref: DOID:0110637 {source="MONDO:equivalentTo"} xref: MESH:C563844 {source="MONDO:equivalentTo"} xref: OMIM:608840 {source="DOID:0110637", source="MONDO:equivalentTo"} xref: Orphanet:370968 {source="MONDO:relatedTo", source="OMIM:608840"} xref: Orphanet:98894 {source="DOID:0110637", source="MONDO:equivalentObsolete", source="OMIM:608840"} xref: UMLS:C1837229 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608840"} is_a: MONDO:0000172 {source="DC-OMIM:608840", source="OMIM:608840"} ! muscular dystrophy-dystroglycanopathy, type B property_value: exactMatch DOID:0110637 property_value: exactMatch http://identifiers.org/mesh/C563844 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837229 property_value: exactMatch https://omim.org/entry/608840 [Term] id: MONDO:0012141 name: orofacial cleft 6, susceptibility to def: "Any orofacial cleft in which the cause of the disease is a mutation in the IRF6 gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition synonym: "cleft lip with or without cleft palate, nonsyndromic, 6" RELATED [OMIM:608864] synonym: "IRF6 orofacial cleft" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "OFC6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608864] synonym: "orofacial cleft 6" EXACT [OMIM:608864, OMIM:genemap2] synonym: "orofacial cleft 6, susceptibility to" EXACT [MONDO:Lexical, OMIM:608864] synonym: "orofacial cleft caused by mutation in IRF6" EXACT [MONDO:design_pattern] synonym: "susceptibility to orofacial cleft 6" RELATED [OMIM:608864] xref: DOID:0080593 {source="MONDO:equivalentTo"} xref: OMIM:608864 {source="MONDO:equivalentTo"} is_a: MONDO:0020573 ! inherited disease susceptibility relationship: predisposes_towards MONDO:0000358 ! orofacial cleft property_value: exactMatch DOID:0080593 property_value: exactMatch https://omim.org/entry/608864 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012143 name: hereditary cryohydrocytosis with reduced stomatin subset: ordo_disease {source="Orphanet:168577"} synonym: "ChC type 2" EXACT [Orphanet:168577] synonym: "cryohydrocytosis, stomatin-deficient, with intellectual disability, seizures, cataracts, and massive hepatosplenomegaly" RELATED [OMIM:608885] synonym: "cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly" RELATED DEPRECATED [OMIM:608885] synonym: "GLUT1 deficiency syndrome with pseudohyperkalemia and hemolysis" RELATED [OMIM:608885] synonym: "hereditary cryohydrocytosis type 2" EXACT [Orphanet:168577] synonym: "sdCHC" EXACT [Orphanet:168577] synonym: "SDCHCN" RELATED ABBREVIATION [OMIM:608885] synonym: "stomatin-deficient cryohydrocytosis" EXACT [Orphanet:168577] synonym: "stomatin-deficient cryohydrocytosis with neurologic defects" RELATED [OMIM:608885] xref: MESH:C563840 {source="MONDO:equivalentTo"} xref: OMIM:608885 {source="Orphanet:168577", source="MONDO:equivalentTo", source="Orphanet:168577/e"} xref: Orphanet:168577 {source="MONDO:equivalentTo", source="OMIM:608885"} xref: UMLS:C1837206 {source="Orphanet:168577", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608885"} is_a: MONDO:0000508 {source="Orphanet:168577", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability is_a: MONDO:0003689 ! familial hemolytic anemia is_a: MONDO:0017706 {source="PMID:33340416"} ! disorder of carbohydrate transmembrane transport and absorption is_a: MONDO:0020102 {source="Orphanet:168577"} ! hereditary stomatocytosis property_value: exactMatch http://identifiers.org/mesh/C563840 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837206 property_value: exactMatch https://omim.org/entry/608885 property_value: exactMatch Orphanet:168577 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0012155 name: choanal atresia def: "Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction." [Orphanet:137914] subset: ordo_morphological_anomaly {source="Orphanet:137914"} synonym: "atresia of nares" EXACT [DOID:9574] synonym: "choanal atresia, POSTERIOR" RELATED [MONDO:Lexical, OMIM:608911] synonym: "imperforate nares" EXACT [DOID:9574] synonym: "PCA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608911] synonym: "posterior choanal atresia" EXACT [DOID:9574] xref: DOID:9574 {source="MONDO:equivalentTo"} xref: ICD10CM:Q30.0 {source="MONDO:equivalentTo", source="Orphanet:137914", source="DOID:9574", source="Orphanet:137914/e"} xref: ICD9:748.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9574"} xref: MedDRA:10008587 {source="Orphanet:137914", source="Orphanet:137914/e"} xref: MESH:D002754 {source="MONDO:equivalentTo", source="Orphanet:137914", source="DOID:9574", source="Orphanet:137914/e"} xref: OMIM:608911 {source="MONDO:equivalentTo", source="Orphanet:137914", source="DOID:9574", source="Orphanet:137914/e"} xref: Orphanet:137914 {source="OMIM:608911", source="MONDO:equivalentTo"} xref: SCTID:204508009 {source="MONDO:equivalentTo", source="DOID:9574"} is_a: MONDO:0002232 {source="DOID:9574"} ! nasal cavity disorder is_a: MONDO:0015503 {source="Orphanet:137914"} ! nose and cavum anomaly is_a: MONDO:0018751 ! hereditary otorhinolaryngologic disease property_value: closeMatch http://identifiers.org/meddra/10008587 property_value: exactMatch DOID:9574 property_value: exactMatch http://identifiers.org/mesh/D002754 property_value: exactMatch http://identifiers.org/snomedct/204508009 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q30.0 property_value: exactMatch https://omim.org/entry/608911 property_value: exactMatch Orphanet:137914 [Term] id: MONDO:0012160 name: spondylometaphyseal dysplasia-cone-rod dystrophy syndrome def: "Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive." [Orphanet:85167] subset: ordo_disease {source="Orphanet:85167"} synonym: "SmD-CRD" EXACT [Orphanet:85167] synonym: "SMDCRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608940] synonym: "spondylometaphyseal dysplasia with cone-rod dystrophy" RELATED [MONDO:Lexical, OMIM:608940] synonym: "spondylometaphyseal dysplasia-cone-rod dystrophy syndrome" EXACT [] xref: DOID:0112300 {source="MONDO:equivalentTo"} xref: MESH:C563825 {source="MONDO:equivalentTo"} xref: OMIM:608940 {source="Orphanet:85167", source="MONDO:equivalentTo", source="Orphanet:85167/e"} xref: Orphanet:85167 {source="MONDO:equivalentTo", source="OMIM:608940"} xref: UMLS:C1837073 {source="Orphanet:85167", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608940"} is_a: MONDO:0016763 {source="Orphanet:85167", source="PMID:31633310"} ! spondylometaphyseal dysplasia property_value: exactMatch DOID:0112300 property_value: exactMatch http://identifiers.org/mesh/C563825 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837073 property_value: exactMatch https://omim.org/entry/608940 property_value: exactMatch Orphanet:85167 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0012161 name: susceptibility to respiratory infections associated with CD8alpha chain mutation def: "Susceptibility to respiratory infections associated with CD8 alpha chain mutation is a rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes." [Orphanet:169085] subset: ordo_disease {source="Orphanet:169085"} subset: predisposition synonym: "CD8 deficiency, familial" RELATED [OMIM:608957] synonym: "familial CD8 deficiency" EXACT [Orphanet:169085] synonym: "susceptibility to respiratory infections associated with CD8alpha chain mutation" EXACT [] xref: MESH:C563824 {source="MONDO:equivalentTo"} xref: OMIM:608957 {source="Orphanet:169085/e", source="MONDO:equivalentTo", source="Orphanet:169085"} xref: Orphanet:169085 {source="OMIM:608957", source="MONDO:equivalentTo"} xref: SCTID:766983005 {source="MONDO:equivalentTo"} xref: UMLS:C1837065 {source="OMIM:608957", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:169085"} is_a: MONDO:0015979 ! hereditary predisposition to infections relationship: predisposes_towards MONDO:0024355 {source="https://orcid.org/0000-0001-5208-3432"} ! respiratory tract infectious disorder property_value: exactMatch http://identifiers.org/mesh/C563824 property_value: exactMatch http://identifiers.org/snomedct/766983005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837065 property_value: exactMatch https://omim.org/entry/608957 property_value: exactMatch Orphanet:169085 property_value: excluded_subClassOf MONDO:0018814 {source="Orphanet:169085"} [Term] id: MONDO:0012163 name: immunodeficiency 104 def: "A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has material basis in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31." [DOID:0090014, PMID:9068311, PMID:9843216] synonym: "autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID" EXACT [DOID:0090014] synonym: "autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID" EXACT [DOID:0090014] synonym: "IMD104" EXACT ABBREVIATION [OMIM:608971] synonym: "SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive" RELATED [OMIM:608971] synonym: "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive" EXACT [OMIM:608971] synonym: "severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive" EXACT [OMIM:608971, OMIM:genemap2] synonym: "severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type" EXACT [OMIM:608971, OMIM:genemap2] xref: DOID:0090014 {source="MONDO:equivalentTo"} xref: MESH:C563822 {source="MONDO:equivalentTo"} xref: OMIM:608971 {source="DOID:0090014", source="MONDO:equivalentTo"} xref: Orphanet:169154 {source="DOID:0090014", source="MONDO:directSiblingOf", source="OMIM:608971"} xref: Orphanet:169157 {source="MONDO:directSiblingOf", source="OMIM:608971"} xref: Orphanet:169160 {source="MONDO:relatedTo", source="OMIM:608971"} xref: UMLS:C1837028 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608971"} is_a: MONDO:0031520 {source="DOID:0090014"} ! familial severe combined immunodeficiency is_a: MONDO:0044200 {source="PMID:31953710"} ! T-B+ severe combined immunodeficiency property_value: exactMatch DOID:0090014 property_value: exactMatch http://identifiers.org/mesh/C563822 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837028 property_value: exactMatch https://omim.org/entry/608971 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5160 xsd:anyURI [Term] id: MONDO:0012164 name: Meacham syndrome def: "Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations." [Orphanet:3097] subset: ordo_malformation_syndrome {source="Orphanet:3097"} synonym: "Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype" RELATED [GARD:0003432] synonym: "Meacham syndrome" EXACT [OMIM:608978] synonym: "Meacham Winn Culler syndrome" RELATED [GARD:0003432] synonym: "Meacham-Winn-Culler syndrome" EXACT [Orphanet:3097] synonym: "Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome" EXACT [Orphanet:3097] xref: MESH:C538162 {source="MONDO:equivalentTo"} xref: OMIM:608978 {source="Orphanet:3097/e", source="MONDO:equivalentTo", source="Orphanet:3097"} xref: Orphanet:3097 {source="OMIM:608978", source="MONDO:equivalentTo"} xref: SCTID:722461004 {source="MONDO:equivalentTo"} xref: UMLS:C1837026 {source="OMIM:608978", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3097"} is_a: MONDO:0015846 {source="Orphanet:3097"} ! syndromic uterovaginal malformation is_a: MONDO:0020040 ! 46,XY disorder of sex development relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch http://identifiers.org/mesh/C538162 property_value: exactMatch http://identifiers.org/snomedct/722461004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837026 property_value: exactMatch https://omim.org/entry/608978 property_value: exactMatch Orphanet:3097 [Term] id: MONDO:0012165 name: BNAR syndrome def: "BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome." [Orphanet:217266] subset: ordo_malformation_syndrome {source="Orphanet:217266"} synonym: "bifid NOSE with or without anorectal and renal anomalies" RELATED [MONDO:Lexical, OMIM:608980] synonym: "bifid nose with or without anorectal and renal anomalies" EXACT [Orphanet:217266] synonym: "BNAR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608980] xref: MESH:C567672 {source="MONDO:equivalentTo"} xref: OMIM:608980 {source="Orphanet:217266/e", source="MONDO:equivalentTo", source="Orphanet:217266"} xref: Orphanet:217266 {source="MONDO:equivalentTo", source="OMIM:608980"} xref: SCTID:717940006 {source="MONDO:equivalentTo"} xref: UMLS:C2750433 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608980", source="Orphanet:217266"} xref: UMLS:C4303547 {source="MONDO:equivalentTo"} is_a: MONDO:0000110 {source="DC-OMIM:608980"} ! bifid nose is_a: MONDO:0015161 {source="Orphanet:217266"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015246 {source="Orphanet:217266"} ! syndromic anorectal malformation property_value: exactMatch http://identifiers.org/mesh/C567672 property_value: exactMatch http://identifiers.org/snomedct/717940006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750433 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303547 property_value: exactMatch https://omim.org/entry/608980 property_value: exactMatch Orphanet:217266 [Term] id: MONDO:0012172 name: mitochondrial trifunctional protein deficiency def: "Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." [Orphanet:746] subset: gard_rare {source="GARD:0003684"} subset: ordo_disease {source="Orphanet:746"} synonym: "mitochondrial trifunctional PROTEIN deficiency" RELATED [OMIM:609015] synonym: "mitochondrial trifunctional protein deficiency" EXACT [MONDO:Lexical, OMIM:609015] synonym: "MTPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609015] synonym: "TFP deficiency" EXACT [Orphanet:746] synonym: "TFPD" EXACT ABBREVIATION [Orphanet:746] synonym: "trifunctional Protein deficiency" RELATED [OMIM:609015] synonym: "trifunctional Protein deficiency with myopathy and neuropathy" RELATED [OMIM:609015] xref: DOID:0111277 {source="MONDO:equivalentTo"} xref: ICD9:277.85 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C566945 {source="Orphanet:746", source="MONDO:equivalentTo", source="Orphanet:746/e", source="https://github.com/monarch-initiative/mondo/issues/2212"} xref: NCIT:C98991 {source="MONDO:equivalentTo"} xref: OMIM:609015 {source="Orphanet:746", source="MONDO:equivalentTo", source="Orphanet:746/e"} xref: Orphanet:746 {source="MONDO:equivalentTo", source="OMIM:609015"} xref: SCTID:237999008 {source="MONDO:equivalentTo"} is_a: MONDO:0002525 {source="MONDO:Redundant", source="NCIT:C98991"} ! inherited lipid metabolism disorder is_a: MONDO:0009637 {source="Orphanet:746"} ! inborn mitochondrial myopathy property_value: exactMatch DOID:0111277 property_value: exactMatch http://identifiers.org/mesh/C566945 property_value: exactMatch http://identifiers.org/snomedct/237999008 property_value: exactMatch https://omim.org/entry/609015 property_value: exactMatch NCIT:C98991 property_value: exactMatch Orphanet:746 property_value: excluded_subClassOf MONDO:0012173 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3684/mitochondrial-trifunctional-protein-deficiency xsd:anyURI {source="GARD:0003684"} [Term] id: MONDO:0012173 name: long chain 3-hydroxyacyl-CoA dehydrogenase deficiency def: "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." [Orphanet:5] subset: ordo_disease {source="Orphanet:5"} synonym: "3-hydroxyacyl-CoA dehydrogenase long chain deficiency" RELATED [GARD:0006867] synonym: "fatty liver, acute, of pregnancy" EXACT [OMIM:609016, OMIM:genemap2] synonym: "HELLP syndrome, maternal, of pregnancy" EXACT [OMIM:609016, OMIM:genemap2] synonym: "LCHAD deficiency" EXACT [OMIM:609016, Orphanet:5] synonym: "LCHADD" EXACT ABBREVIATION [Orphanet:5] synonym: "long chain 3-hydroxyacyl-CoA dehydrogenase deficiency" EXACT [] synonym: "long-chain 3-hydroxy acyl CoA dehydrogenase deficiency" RELATED [GARD:0006867] synonym: "long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency" RELATED [OMIM:609016] synonym: "long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency" EXACT [Orphanet:5] synonym: "long-chain 3-OH acyl-CoA dehydrogenase deficiency" RELATED [GARD:0006867] synonym: "trifunctional protein deficiency type 1" RELATED [GARD:0006867] xref: NCIT:C129929 {source="MONDO:equivalentTo"} xref: OMIM:609016 {source="Orphanet:5", source="MONDO:equivalentTo", source="Orphanet:5/e"} xref: Orphanet:5 {source="MONDO:equivalentTo", source="OMIM:609016"} xref: SCTID:726021008 {source="MONDO:equivalentTo"} xref: UMLS:C3711645 {source="MONDO:equivalentTo"} xref: UMLS:CN074230 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:CN239369 {source="MONDO:equivalentTo"} is_a: MONDO:0017713 ! disorder of fatty acid oxidation and ketogenesis is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy is_a: MONDO:0024573 ! familial hypertrophic cardiomyopathy property_value: exactMatch http://identifiers.org/snomedct/726021008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3711645 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN074230 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239369 property_value: exactMatch https://omim.org/entry/609016 property_value: exactMatch NCIT:C129929 property_value: exactMatch Orphanet:5 property_value: excluded_subClassOf MONDO:0017715 {source="Orphanet:5"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012176 name: Emanuel syndrome def: "Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities." [Orphanet:96170] subset: gard_rare {source="GARD:0009835"} subset: ordo_malformation_syndrome {source="Orphanet:96170"} synonym: "Der(22)t(11;22) syndrome" EXACT [Orphanet:96170] synonym: "Ehlers-Danlos syndrome, classic-like, 1" RELATED [OMIM:609029, OMIM:genemap2] synonym: "Emanuel syndrome" EXACT [OMIM:609029] synonym: "supernumerary der(22) syndrome" EXACT [Orphanet:96170] synonym: "supernumerary der(22),t(11;22) syndrome" RELATED [GARD:0009835] synonym: "supernumerary Der(22)T(11" RELATED [OMIM:609029] xref: ICD9:758.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535733 {source="MONDO:equivalentTo", source="Orphanet:96170", source="Orphanet:96170/e"} xref: OMIM:609029 {source="MONDO:equivalentTo", source="Orphanet:96170", source="Orphanet:96170/e"} xref: Orphanet:96170 {source="MONDO:equivalentTo", source="OMIM:609029"} xref: SCTID:702417004 {source="MONDO:equivalentTo"} xref: UMLS:C1836929 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:96170", source="OMIM:609029", source="Orphanet:96170/e"} is_a: EFO:0000508 {source="MESH:C535733/inferred", source="Orphanet:96170/inferred"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C535733 property_value: exactMatch http://identifiers.org/snomedct/702417004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836929 property_value: exactMatch https://omim.org/entry/609029 property_value: exactMatch Orphanet:96170 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9835/emanuel-syndrome xsd:anyURI {source="GARD:0009835"} [Term] id: MONDO:0012177 name: posterior column ataxia-retinitis pigmentosa syndrome def: "Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa." [Orphanet:88628] subset: ordo_disease {source="Orphanet:88628"} synonym: "ataxia, posterior column, with retinitis pigmentosa" EXACT [OMIM:609033, OMIM:genemap2] synonym: "autosomal recessive posterior column ataxia and retinitis pigmentosa" EXACT [Orphanet:88628] synonym: "AXPC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609033] synonym: "PCARP" EXACT ABBREVIATION [Orphanet:88628] synonym: "Pcarp" RELATED [OMIM:609033] synonym: "POSTERIOR column ataxia with retinitis pigmentosa" RELATED [MONDO:Lexical, OMIM:609033] xref: MESH:C536343 {source="MONDO:equivalentTo", source="Orphanet:88628", source="Orphanet:88628/e"} xref: OMIM:609033 {source="MONDO:equivalentTo", source="Orphanet:88628", source="Orphanet:88628/e"} xref: Orphanet:88628 {source="MONDO:equivalentTo", source="OMIM:609033"} xref: SCTID:724065003 {source="MONDO:equivalentTo"} xref: UMLS:C1836916 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609033", source="Orphanet:88628", source="Orphanet:88628/e"} xref: UMLS:C4510304 {source="MONDO:equivalentTo"} is_a: MONDO:0100449 {source="https://clinicalgenome.org/affiliation/40072/"} ! FLVCR1-related retinopathy with or without ataxia property_value: exactMatch http://identifiers.org/mesh/C536343 property_value: exactMatch http://identifiers.org/snomedct/724065003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836916 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510304 property_value: exactMatch https://omim.org/entry/609033 property_value: exactMatch Orphanet:88628 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012181 name: hereditary spastic paraplegia 27 def: "A hereditary spastic paraplegia that has material basis in variation in the chromosome region 10q22.1-q24.1." [DOID:0110778, PMID:15455396] subset: ordo_disease {source="Orphanet:101007"} synonym: "autosomal recessive spastic paraplegia 27" EXACT [DOID:0110778] synonym: "autosomal recessive spastic paraplegia type 27" EXACT [DOID:0110778] synonym: "hereditary spastic paraplegia type 27" EXACT [DOID:0110778, MONDORULE:2] synonym: "spastic paraplegia 27, autosomal recessive" RELATED [MONDO:Lexical, OMIM:609041] synonym: "SPG27" EXACT ABBREVIATION [DOID:0110778, MONDO:Lexical, OMIM:609041, Orphanet:101007] xref: DOID:0110778 {source="MONDO:equivalentTo"} xref: MESH:C563807 {source="MONDO:equivalentTo"} xref: OMIM:609041 {source="DOID:0110778", source="MONDO:equivalentTo", source="Orphanet:101007", source="Orphanet:101007/e"} xref: Orphanet:101007 {source="DOID:0110778", source="OMIM:609041", source="MONDO:equivalentTo"} xref: UMLS:C1836899 {source="OMIM:609041", source="MONDO:equivalentTo", source="Orphanet:101007", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015089 {source="Orphanet:101007"} ! autosomal recessive complex spastic paraplegia property_value: exactMatch DOID:0110778 property_value: exactMatch http://identifiers.org/mesh/C563807 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836899 property_value: exactMatch https://omim.org/entry/609041 property_value: exactMatch Orphanet:101007 [Term] id: MONDO:0012183 name: melanoma, cutaneous malignant, susceptibility to, 3 subset: predisposition synonym: "CMM3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609048] synonym: "melanoma, cutaneous malignant, 3" EXACT [OMIM:609048, OMIM:genemap2] synonym: "melanoma, cutaneous malignant, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:609048] synonym: "melanoma, cutaneous malignant, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:609048] synonym: "susceptibility to cutaneous malignant melanoma 3" RELATED [OMIM:609048] xref: OMIM:609048 {source="MONDO:equivalentTo"} is_a: MONDO:0020573 {source="OMIM:609048"} ! inherited disease susceptibility relationship: predisposes_towards EFO:0000389 {source="https://orcid.org/0000-0002-4142-7153"} ! cutaneous melanoma property_value: exactMatch https://omim.org/entry/609048 property_value: excluded_subClassOf MONDO:0018961 {source="Orphanet:618/btnt"} property_value: excluded_subClassOf MONDO:0024462 {source="OMIM:609048"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012184 name: Pierson syndrome def: "Pierson syndrome is characterized by the association of congenital nephrotic syndrome and ocular anomalies with microcoria." [Orphanet:2670] subset: gard_rare {source="GARD:0009420"} subset: ordo_malformation_syndrome {source="Orphanet:2670"} synonym: "microcoria - congenital nephrosis" RELATED [GARD:0009420] synonym: "microcoria - congenital nephrotic syndrome" RELATED [GARD:0009420] synonym: "microcoria-congenital nephrosis syndrome" EXACT [DOID:0060852, Orphanet:2670] synonym: "microcoria-congenital nephrotic syndrome" RELATED [OMIM:609049] synonym: "Pierson syndrome" EXACT [OMIM:609049] xref: DOID:0060852 {source="MONDO:equivalentTo"} xref: MESH:C537185 {source="Orphanet:2670/e", source="MONDO:equivalentTo", source="DOID:0060852", source="Orphanet:2670"} xref: NCIT:C128145 {source="MONDO:equivalentTo"} xref: OMIM:609049 {source="Orphanet:2670/e", source="MONDO:equivalentTo", source="DOID:0060852", source="Orphanet:2670"} xref: Orphanet:2670 {source="MONDO:equivalentTo", source="DOID:0060852", source="OMIM:609049"} xref: SCTID:723449004 {source="MONDO:equivalentTo"} xref: UMLS:C1836876 {source="NCIT:C128145", source="Orphanet:2670/e", source="MONDO:equivalentTo", source="DOID:0060852", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609049", source="Orphanet:2670"} is_a: EFO:1000017 {source="DOID:0060852", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0013621 ! LAMB2-related infantile-onset nephrotic syndrome property_value: exactMatch DOID:0060852 property_value: exactMatch http://identifiers.org/mesh/C537185 property_value: exactMatch http://identifiers.org/snomedct/723449004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836876 property_value: exactMatch https://omim.org/entry/609049 property_value: exactMatch NCIT:C128145 property_value: exactMatch Orphanet:2670 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9420/pierson-syndrome xsd:anyURI {source="GARD:0009420"} [Term] id: MONDO:0012185 name: spondylometaphyseal dysplasia, A4 type subset: gard_rare {source="GARD:0000458"} subset: ordo_disease {source="Orphanet:168555"} synonym: "spondylometaphyseal dysplasia A4 type" RELATED [GARD:0000458] synonym: "spondylometaphyseal dysplasia type A4" RELATED [GARD:0000458] synonym: "spondylometaphyseal dysplasia, type A4" RELATED [OMIM:609052] xref: DOID:0112301 {source="MONDO:equivalentTo"} xref: MESH:C563803 {source="MONDO:equivalentTo"} xref: OMIM:609052 {source="Orphanet:168555", source="MONDO:equivalentTo", source="Orphanet:168555/e"} xref: Orphanet:168555 {source="OMIM:609052", source="MONDO:equivalentTo"} xref: UMLS:C1836862 {source="OMIM:609052", source="Orphanet:168555", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0016763 {source="DC-OMIM:609052", source="Orphanet:168555"} ! spondylometaphyseal dysplasia property_value: exactMatch DOID:0112301 property_value: exactMatch http://identifiers.org/mesh/C563803 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836862 property_value: exactMatch https://omim.org/entry/609052 property_value: exactMatch Orphanet:168555 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/458/spondylometaphyseal-dysplasia-type-a4 xsd:anyURI {source="GARD:0000458"} [Term] id: MONDO:0012186 name: Fanconi anemia complementation group I def: "Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein." [NCIT:C129026] synonym: "FANCI" EXACT ABBREVIATION [DOID:0111091, MONDO:Lexical, OMIM:609053] synonym: "Fanconi anaemia complementation group type I" EXACT OMO:0003005 [] synonym: "Fanconi anemia complementation group I" EXACT [] synonym: "Fanconi anemia complementation group type I" EXACT [DOID:0111091, MONDORULE:1] synonym: "Fanconi Anemia, complementation Group 1" RELATED [OMIM:609053] synonym: "Fanconi anemia, complementation group I" RELATED [MONDO:Lexical, OMIM:609053] synonym: "Fanconi Anemia, complementation group type 1" EXACT [MONDORULE:1, OMIM:609053] xref: DOID:0111091 {source="MONDO:equivalentTo"} xref: MESH:C563802 {source="MONDO:equivalentTo"} xref: NCIT:C129026 {source="MONDO:equivalentTo"} xref: OMIM:609053 {source="DOID:0111091", source="MONDO:equivalentTo"} xref: UMLS:C1836861 {source="NCIT:C129026", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609053"} is_a: MONDO:0019391 {source="DC-OMIM:609053", source="DOID:0111091", source="MESH:C563802", source="NCIT:C129026", source="OMIM:609053"} ! Fanconi anemia property_value: exactMatch DOID:0111091 property_value: exactMatch http://identifiers.org/mesh/C563802 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836861 property_value: exactMatch https://omim.org/entry/609053 property_value: exactMatch NCIT:C129026 [Term] id: MONDO:0012187 name: Fanconi anemia complementation group J def: "Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein." [NCIT:C129027] synonym: "FANCJ" EXACT ABBREVIATION [DOID:0111097, MONDO:Lexical, OMIM:609054] synonym: "Fanconi anaemia complementation group type J" EXACT OMO:0003005 [] synonym: "Fanconi anemia complementation group J" EXACT [] synonym: "Fanconi anemia complementation group type J" EXACT [DOID:0111097, MONDORULE:1] synonym: "Fanconi anemia, complementation group J" RELATED [MONDO:Lexical, OMIM:609054] synonym: "Fanconi Anemia, complementation group type J" EXACT [MONDORULE:1, OMIM:609054] xref: DOID:0111097 {source="MONDO:equivalentTo"} xref: MESH:C563801 {source="MONDO:equivalentTo"} xref: NCIT:C129027 {source="MONDO:equivalentTo"} xref: OMIM:609054 {source="MONDO:equivalentTo", source="DOID:0111097"} xref: UMLS:C1836860 {source="NCIT:C129027", source="MONDO:equivalentTo", source="OMIM:609054", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019391 {source="DC-OMIM:609054", source="DOID:0111097", source="MESH:C563801", source="NCIT:C129027", source="OMIM:609054"} ! Fanconi anemia property_value: exactMatch DOID:0111097 property_value: exactMatch http://identifiers.org/mesh/C563801 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836860 property_value: exactMatch https://omim.org/entry/609054 property_value: exactMatch NCIT:C129027 [Term] id: MONDO:0012188 name: neuronal ceroid lipofuscinosis 9 def: "Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). The underlying genetic cause of CLN9-NCLis unknown but it appears to be inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." [https://rarediseases.info.nih.gov/diseases/6618/neuronal-ceroid-lipofuscinosis-9] subset: gard_rare {source="GARD:0006618"} subset: ordo_etiological_subtype {source="Orphanet:228357"} synonym: "ceroid lipofuscinosis, neuronal, 9" RELATED [MONDO:Lexical, OMIM:609055] synonym: "CLN 9" RELATED [GARD:0006618] synonym: "CLN9" EXACT ABBREVIATION [DOID:0110733, MONDO:Lexical, OMIM:609055] synonym: "CLN9 disease" RELATED [Orphanet:228357] synonym: "neuronal ceroid lipofuscinosis type 9" EXACT [DOID:0110733, MONDORULE:1] xref: DOID:0110733 {source="MONDO:equivalentTo"} xref: MESH:C537953 {source="MONDO:equivalentTo"} xref: OMIM:609055 {source="DOID:0110733", source="Orphanet:228357/e", source="MONDO:equivalentTo", source="Orphanet:228357"} xref: Orphanet:228357 {source="DOID:0110733", source="MONDO:equivalentTo", source="OMIM:609055"} is_a: MONDO:0019262 {source="Orphanet:228357"} ! juvenile neuronal ceroid lipofuscinosis property_value: exactMatch DOID:0110733 property_value: exactMatch http://identifiers.org/mesh/C537953 property_value: exactMatch https://omim.org/entry/609055 property_value: exactMatch Orphanet:228357 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6618/neuronal-ceroid-lipofuscinosis-9 xsd:anyURI {source="GARD:0006618"} [Term] id: MONDO:0012190 name: nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome subset: ordo_disease {source="Orphanet:300333"} synonym: "epidermolysis bullosa simplex 7, with nephropathy and deafness" EXACT [OMIM:609057, OMIM:genemap2] synonym: "nephropathy with pretibial epidermolysis bullosa and deafness" RELATED [OMIM:609057] synonym: "nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome" EXACT [Orphanet:300333] xref: MESH:C563798 {source="MONDO:equivalentTo"} xref: OMIM:609057 {source="Orphanet:300333", source="MONDO:equivalentTo", source="Orphanet:300333/e"} xref: Orphanet:300333 {source="MONDO:equivalentTo", source="OMIM:609057"} xref: UMLS:C1836823 {source="Orphanet:300333", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609057"} is_a: MONDO:0017610 {source="OMIM:609057"} ! epidermolysis bullosa simplex is_a: MONDO:0019723 {source="Orphanet:300333"} ! disease of glomerular basement membrane is_a: MONDO:0100191 ! inherited kidney disorder property_value: exactMatch http://identifiers.org/mesh/C563798 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836823 property_value: exactMatch https://omim.org/entry/609057 property_value: exactMatch Orphanet:300333 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012191 name: hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 def: "Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement." [Orphanet:137681] subset: ordo_disease {source="Orphanet:137681"} synonym: "combined oxidative phosphorylation deficiency 1" RELATED [MONDO:Lexical, OMIM:609060] synonym: "combined oxidative phosphorylation deficiency caused by mutation in GFM1" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 1" EXACT [MONDORULE:1, OMIM:609060] synonym: "COXPD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609060] synonym: "GFM1 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hepatoencephalopathy due to combined oxidative phosphorylation defect type 1" EXACT [] synonym: "Hepatoencephalopathy due to COXPD1" EXACT [Orphanet:137681] synonym: "Hepatoencephalopathy, early fatal progressive" RELATED [OMIM:609060] xref: DOID:0111474 {source="MONDO:equivalentTo"} xref: MESH:C563797 {source="MONDO:equivalentTo"} xref: NCIT:C125663 {source="MONDO:equivalentTo"} xref: OMIM:609060 {source="Orphanet:137681/e", source="MONDO:equivalentTo", source="Orphanet:137681"} xref: Orphanet:137681 {source="OMIM:609060", source="MONDO:equivalentTo"} xref: SCTID:764962002 {source="MONDO:equivalentTo"} xref: UMLS:C1836797 {source="OMIM:609060", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:137681"} is_a: MONDO:0000732 {source="DC-OMIM:609060", source="MONDO:Redundant", source="OMIM:609060"} ! combined oxidative phosphorylation deficiency relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare property_value: exactMatch DOID:0111474 property_value: exactMatch http://identifiers.org/mesh/C563797 property_value: exactMatch http://identifiers.org/snomedct/764962002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836797 property_value: exactMatch https://omim.org/entry/609060 property_value: exactMatch NCIT:C125663 property_value: exactMatch Orphanet:137681 [Term] id: MONDO:0012192 name: permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome def: "Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis." [Orphanet:65288] subset: ordo_malformation_syndrome {source="Orphanet:65288"} synonym: "diabetes mellitus, permanent neonatal, with cerebellar agenesis" RELATED [OMIM:609069] synonym: "paca" RELATED [MONDO:Lexical, OMIM:609069] synonym: "pancreatic and cerebellar agenesis" EXACT [MONDO:Lexical, OMIM:609069, Orphanet:65288] xref: MESH:C563796 {source="MONDO:equivalentTo"} xref: OMIM:609069 {source="Orphanet:65288/e", source="MONDO:equivalentTo", source="Orphanet:65288"} xref: Orphanet:65288 {source="MONDO:equivalentTo", source="OMIM:609069"} xref: UMLS:C1836780 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609069", source="Orphanet:65288"} is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0016391 {source="Orphanet:65288"} ! neonatal diabetes mellitus is_a: MONDO:0020022 ! central nervous system malformation relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation property_value: exactMatch http://identifiers.org/mesh/C563796 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836780 property_value: exactMatch https://omim.org/entry/609069 property_value: exactMatch Orphanet:65288 [Term] id: MONDO:0012193 name: autosomal dominant limb-girdle muscular dystrophy type 1G def: "Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed." [Orphanet:55596] subset: ordo_disease {source="Orphanet:55596"} synonym: "autosomal dominant limb-girdle muscular dystrophy caused by mutation in HNRNPDL" EXACT [MONDO:design_pattern] synonym: "HNRNPDL autosomal dominant limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "LGMD1G" EXACT ABBREVIATION [DOID:0110306, MONDO:Lexical, OMIM:609115, Orphanet:55596] synonym: "limb-girdle muscular dystrophy type 1G" RELATED [GARD:0012531] synonym: "limb-girdle muscular dystrophy, type 1G" RELATED [MONDO:Lexical, OMIM:609115] synonym: "muscular dystrophy limb-girdle type 1G" EXACT [DOID:0110306] synonym: "muscular dystrophy, limb-girdle, autosomal dominant 3" EXACT [OMIM:609115, OMIM:genemap2] xref: DOID:0110306 {source="MONDO:equivalentTo"} xref: MESH:C563794 {source="MONDO:equivalentTo"} xref: OMIM:609115 {source="DOID:0110306", source="Orphanet:55596/e", source="MONDO:equivalentTo", source="Orphanet:55596"} xref: Orphanet:55596 {source="DOID:0110306", source="MONDO:equivalentTo", source="OMIM:609115"} xref: SCTID:719990003 {source="MONDO:equivalentTo"} is_a: MONDO:0015151 {source="DOID:0110306", source="MONDO:Redundant", source="OMIM:609115", source="Orphanet:55596"} ! muscular dystrophy, limb-girdle, autosomal dominant property_value: exactMatch DOID:0110306 property_value: exactMatch http://identifiers.org/mesh/C563794 property_value: exactMatch http://identifiers.org/snomedct/719990003 property_value: exactMatch https://omim.org/entry/609115 property_value: exactMatch Orphanet:55596 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012195 name: arthrogryposis-severe scoliosis syndrome def: "Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal." [Orphanet:65720] subset: ordo_malformation_syndrome {source="Orphanet:65720"} synonym: "arthrogryposis with Severe scoliosis" RELATED [OMIM:609128] synonym: "arthrogryposis, distal, type 2D" RELATED [OMIM:609128] synonym: "arthrogryposis, distal, type 4" RELATED [MONDO:Lexical, OMIM:609128] synonym: "DA4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609128] synonym: "distal arthrogryposis type 4" EXACT [Orphanet:65720] synonym: "distal arthrogryposis type IID" EXACT [Orphanet:65720] xref: DOID:0111610 {source="MONDO:equivalentTo"} xref: MESH:C563791 {source="MONDO:equivalentTo"} xref: OMIM:609128 {source="Orphanet:65720", source="MONDO:equivalentTo", source="Orphanet:65720/e"} xref: Orphanet:65720 {source="MONDO:equivalentTo", source="OMIM:609128"} xref: SCTID:715575001 {source="MONDO:equivalentTo"} xref: UMLS:C1836756 {source="Orphanet:65720", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609128"} is_a: MONDO:0019942 {source="DC-OMIM:609128", source="Orphanet:65720"} ! distal arthrogryposis property_value: exactMatch DOID:0111610 property_value: exactMatch http://identifiers.org/mesh/C563791 property_value: exactMatch http://identifiers.org/snomedct/715575001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836756 property_value: exactMatch https://omim.org/entry/609128 property_value: exactMatch Orphanet:65720 [Term] id: MONDO:0012197 name: idiopathic aplastic anemia def: "Aplastic anemia without a known cause." [NCIT:C61230] subset: ordo_disease {source="Orphanet:88"} synonym: "anaemia aplastic" RELATED OMO:0003005 [] synonym: "anemia aplastic" RELATED [GARD:0005836] synonym: "aplastic anaemia" RELATED OMO:0003005 [] synonym: "aplastic anaemia idiopathic" RELATED OMO:0003005 [] synonym: "aplastic anemia" RELATED [OMIM:609135] synonym: "aplastic anemia idiopathic" RELATED [GARD:0005836] synonym: "aplastic Anemia, susceptibility to" RELATED [OMIM:609135] synonym: "idiopathic aplastic aplasia" EXACT [NCIT:C61230] synonym: "idiopathic bone marrow failure" EXACT [Orphanet:88] synonym: "secondary aplastic anaemia" RELATED OMO:0003005 [] synonym: "secondary aplastic anemia" RELATED [GARD:0005836] xref: ICD10CM:D61.0 {source="MONDO:relatedTo", source="Orphanet:88", source="Orphanet:88/e"} xref: ICD10CM:D61.3 {source="MONDO:equivalentTo"} xref: MESH:C538494 {source="Orphanet:88", source="MONDO:equivalentTo", source="Orphanet:88/e"} xref: NCIT:C61230 {source="MONDO:equivalentTo"} xref: OMIM:609135 {source="Orphanet:88", source="MONDO:equivalentTo", source="Orphanet:88/e"} xref: Orphanet:88 {source="MONDO:equivalentTo", source="OMIM:609135"} xref: SCTID:191256002 {source="MONDO:equivalentTo"} xref: UMLS:C0348890 {source="Orphanet:88", source="MONDO:equivalentTo", source="Orphanet:88/e", source="NCIT:C61230"} is_a: MONDO:0015909 ! aplastic anemia is_a: MONDO:0700007 ! idiopathic disease relationship: has_characteristic MONDO:0021141 ! acquired property_value: exactMatch http://identifiers.org/mesh/C538494 property_value: exactMatch http://identifiers.org/snomedct/191256002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0348890 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D61.3 property_value: exactMatch https://omim.org/entry/609135 property_value: exactMatch NCIT:C61230 property_value: exactMatch Orphanet:88 [Term] id: MONDO:0012198 name: PCWH syndrome def: "A syndrome characterized by the association of the features of Waardenburg-Shah syndrome (WSS) (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease) with neurological features, namely, neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy." [Orphanet:163746] subset: ordo_disease {source="Orphanet:163746"} synonym: "neurologic Waardenburg-Shah syndrome" EXACT [DOID:0090111] synonym: "PCWH" EXACT ABBREVIATION [DOID:0090111, MONDO:Lexical, OMIM:609136, Orphanet:163746] synonym: "peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease" EXACT [DOID:0090111, MONDO:Lexical, OMIM:609136] synonym: "peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome" EXACT [DOID:0090111, Orphanet:163746] synonym: "peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease" RELATED [Orphanet:163746] synonym: "Waardenburg-Shah syndrome, neurologic variant" RELATED [OMIM:609136] synonym: "WS4 plus" EXACT [Orphanet:163746] xref: DOID:0090111 {source="MONDO:equivalentTo"} xref: MESH:C563789 {source="MONDO:equivalentTo"} xref: OMIM:609136 {source="Orphanet:163746/e", source="DOID:0090111", source="MONDO:equivalentTo", source="Orphanet:163746"} xref: Orphanet:163746 {source="DOID:0090111", source="MONDO:equivalentTo", source="OMIM:609136"} xref: UMLS:C1836727 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:163746", source="OMIM:609136"} xref: UMLS:CN239463 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 {source="DOID:0090111", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015184"} ! rare property_value: exactMatch DOID:0090111 property_value: exactMatch http://identifiers.org/mesh/C563789 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836727 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239463 property_value: exactMatch https://omim.org/entry/609136 property_value: exactMatch Orphanet:163746 property_value: excluded_subClassOf MONDO:0005328 property_value: excluded_subClassOf MONDO:0019046 {source="Orphanet:163746"} property_value: excluded_subClassOf MONDO:0019290 {source="Orphanet:163746"} property_value: excluded_subClassOf MONDO:0020127 {source="Orphanet:163746"} property_value: excluded_subClassOf MONDO:0021189 {source="Orphanet:163746"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5682 xsd:anyURI [Term] id: MONDO:0012203 name: familial hyperthyroidism due to mutations in TSH receptor def: "Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history." [Orphanet:424] subset: ordo_disease {source="Orphanet:424"} synonym: "familial non-immune hyperthyroidism" EXACT [Orphanet:424] synonym: "hyperthyroidism, congenital Nonautoimmune" RELATED [OMIM:609152] synonym: "hyperthyroidism, NONAUTOIMMUNE" RELATED [OMIM:609152] synonym: "hyperthyroidism, Nonautoimmune, autosomal dominant" RELATED [OMIM:609152] synonym: "Nonautoimmune hyperthyroidism" RELATED [GARD:0002858] synonym: "resistance to thyroid stimulating hormone" EXACT [Orphanet:424] synonym: "toxic thyroid hyperplasia, autosomal dominant" RELATED [OMIM:609152] xref: DOID:0081101 {source="MONDO:equivalentTo"} xref: MESH:C563786 {source="MONDO:equivalentTo"} xref: OMIM:609152 {source="Orphanet:424", source="MONDO:equivalentTo", source="Orphanet:424/e"} xref: Orphanet:424 {source="MONDO:equivalentTo", source="OMIM:609152"} xref: UMLS:C1836706 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609152"} is_a: EFO:0009189 {source="Orphanet:424"} ! hyperthyroidism relationship: has_characteristic MONDO:0021136 {source="MONDO:0015894"} ! rare property_value: exactMatch DOID:0081101 property_value: exactMatch http://identifiers.org/mesh/C563786 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836706 property_value: exactMatch https://omim.org/entry/609152 property_value: exactMatch Orphanet:424 [Term] id: MONDO:0012204 name: familial pseudohyperkalemia def: "An inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis." [Orphanet:90044] subset: ordo_disease {source="Orphanet:90044"} synonym: "cryohydrocytosis, mild" RELATED [OMIM:609153] synonym: "pseudohyperkalemia Chiswick" RELATED [OMIM:609153] synonym: "pseudohyperkalemia East London" RELATED [OMIM:609153] synonym: "pseudohyperkalemia Falkirk" RELATED [OMIM:609153] synonym: "pseudohyperkalemia Lille" RELATED [OMIM:609153] synonym: "pseudohyperkalemia, familial, 2, due to red cell leak" EXACT [OMIM:609153] synonym: "PSHK2" EXACT ABBREVIATION [OMIM:609153] xref: MESH:C563785 {source="MONDO:equivalentTo"} xref: OMIM:609153 {source="Orphanet:90044", source="MONDO:equivalentTo", source="Orphanet:90044/e"} xref: Orphanet:90044 {source="MONDO:equivalentTo", source="OMIM:609153"} xref: SCTID:717254007 {source="MONDO:equivalentTo"} xref: UMLS:C1836705 {source="Orphanet:90044", source="MONDO:equivalentTo", source="OMIM:609153", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4273970 {source="MONDO:equivalentTo"} is_a: MONDO:0020102 {source="Orphanet:90044"} ! hereditary stomatocytosis property_value: exactMatch http://identifiers.org/mesh/C563785 property_value: exactMatch http://identifiers.org/snomedct/717254007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836705 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4273970 property_value: exactMatch https://omim.org/entry/609153 property_value: exactMatch Orphanet:90044 [Term] id: MONDO:0012205 name: autosomal dominant striatal neurodegeneration type 1 def: "Autosomal dominant striatal degeneration is a neurologic disorder characterized by variable movement abnormalities due to dysfunction in the striatal part of the basal ganglia." [OMIM:609161] subset: ordo_disease {source="Orphanet:228169"} synonym: "ADSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609161, Orphanet:228169] synonym: "ADSD1" EXACT ABBREVIATION [OMIM:609161] synonym: "autosomal dominant striatal neurodegeneration" RELATED [Orphanet:228169] synonym: "PDE8B striatal degeneration, autosomal dominant" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "striatal degeneration, autosomal dominant" RELATED [MONDO:Lexical, OMIM:609161] synonym: "striatal Degeneration, autosomal dominant 1" EXACT [OMIM:609161] synonym: "striatal degeneration, autosomal dominant 1" EXACT [OMIM:609161] synonym: "striatal degeneration, autosomal dominant caused by mutation in PDE8B" EXACT [MONDO:design_pattern] xref: OMIM:609161 {source="Orphanet:228169/e", source="MONDO:equivalentTo", source="Orphanet:228169"} xref: SCTID:725392005 {source="MONDO:equivalentTo"} is_a: MONDO:0000211 {source="DC-OMIM:609161", source="MONDO:Redundant", source="OMIM:609161"} ! striatal degeneration, autosomal dominant is_a: MONDO:0021095 {source="MONDO:0017661-obsoleted"} ! parkinsonian disorder property_value: exactMatch http://identifiers.org/snomedct/725392005 property_value: exactMatch https://omim.org/entry/609161 [Term] id: MONDO:0012206 name: Czech dysplasia, metatarsal type def: "Czech dysplasia, metatarsal type is a form of skeletal dysplasia characterized by severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes." [Orphanet:137678] subset: gard_rare {source="GARD:0010220"} subset: ordo_disease {source="Orphanet:137678"} synonym: "Czech dysplasia" RELATED [OMIM:609162] synonym: "Czech dysplasia metatarsal type" RELATED [GARD:0010220] synonym: "Czech dysplasia, metatarsal type" EXACT [OMIM:609162] synonym: "pseudorheumatoid dysplasia progressive, with hypoplastic toes" RELATED [GARD:0010220] synonym: "pseudorheumatoid dysplasia, progressive, with hypoplastic toes" RELATED [OMIM:609162] synonym: "spondyloepiphyseal dysplasia with precocious osteoarthritis" RELATED [OMIM:609162] xref: MESH:C535766 {source="Orphanet:137678", source="MONDO:equivalentTo", source="Orphanet:137678/e"} xref: OMIM:609162 {source="Orphanet:137678", source="MONDO:equivalentTo", source="Orphanet:137678/e"} xref: Orphanet:137678 {source="OMIM:609162", source="MONDO:equivalentTo"} xref: SCTID:720826006 {source="MONDO:equivalentTo"} is_a: MONDO:0016761 {source="Orphanet:137678"} ! spondyloepiphyseal dysplasia is_a: MONDO:0022800 {source="Orphanet:137678", source="PMID:31633310"} ! type 2 collagenopathy property_value: exactMatch http://identifiers.org/mesh/C535766 property_value: exactMatch http://identifiers.org/snomedct/720826006 property_value: exactMatch https://omim.org/entry/609162 property_value: exactMatch Orphanet:137678 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10220/czech-dysplasia-metatarsal-type xsd:anyURI {source="GARD:0010220"} [Term] id: MONDO:0012208 name: congenital reticular ichthyosiform erythroderma subset: ordo_disease {source="Orphanet:281190"} synonym: "Aarau disease" RELATED [OMIM:609165] synonym: "CRIE" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609165, Orphanet:281190] synonym: "erythroderma, ichthyosiform, congenital reticular" RELATED [MONDO:Lexical, OMIM:609165] synonym: "erythrokeratoderma, reticular" RELATED [OMIM:609165] synonym: "ichthyosis variegata" EXACT [OMIM:609165, Orphanet:281190] synonym: "ichthyosis with confetti" EXACT [OMIM:609165, Orphanet:281190] synonym: "IWC" EXACT ABBREVIATION [Orphanet:281190] xref: MESH:C563781 {source="MONDO:equivalentTo"} xref: OMIM:609165 {source="Orphanet:281190/e", source="MONDO:equivalentTo", source="Orphanet:281190"} xref: Orphanet:281190 {source="MONDO:equivalentTo", source="OMIM:609165"} xref: SCTID:703504006 {source="MONDO:equivalentTo"} xref: UMLS:C3665704 {source="MONDO:equivalentTo", source="OMIM:609165"} is_a: MONDO:0017262 {source="Orphanet:281190", source="Orphanet:281190/inferred", source="PMID:20643494"} ! inherited non-syndromic ichthyosis relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch http://identifiers.org/mesh/C563781 property_value: exactMatch http://identifiers.org/snomedct/703504006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3665704 property_value: exactMatch https://omim.org/entry/609165 property_value: exactMatch Orphanet:281190 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0012209 name: branchiogenic deafness syndrome def: "Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent." [Orphanet:50815] subset: ordo_malformation_syndrome {source="Orphanet:50815"} synonym: "BRANCHIOGENIC-deafness syndrome" RELATED [OMIM:609166] synonym: "MC)garbanC)-Loiselet syndrome" EXACT [Orphanet:50815] synonym: "Mégarbané-Loiselet syndrome" EXACT [Orphanet:50815] xref: MESH:C563780 {source="MONDO:equivalentTo"} xref: OMIM:609166 {source="Orphanet:50815/e", source="MONDO:equivalentTo", source="Orphanet:50815"} xref: Orphanet:50815 {source="MONDO:equivalentTo", source="OMIM:609166"} xref: SCTID:717944002 {source="MONDO:equivalentTo"} xref: UMLS:C1836673 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609166", source="Orphanet:50815"} is_a: MONDO:0015160 {source="Orphanet:50815"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C563780 property_value: exactMatch http://identifiers.org/snomedct/717944002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836673 property_value: exactMatch https://omim.org/entry/609166 property_value: exactMatch Orphanet:50815 [Term] id: MONDO:0012211 name: MPDU1-congenital disorder of glycosylation def: "The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies." [Orphanet:79323] subset: ordo_disease {source="Orphanet:79323"} synonym: "carbohydrate deficient glycoprotein syndrome type If" EXACT [Orphanet:79323] synonym: "carbohydrate-deficient glycoprotein syndrome type 1F" RELATED [GARD:0009832] synonym: "CDG 1F" RELATED [GARD:0009832] synonym: "CDG If" RELATED [OMIM:609180] synonym: "CDG syndrome type If" EXACT [Orphanet:79323] synonym: "CDG-If" EXACT [Orphanet:79323] synonym: "CDG1F" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609180, Orphanet:79323] synonym: "CDGIf" EXACT [NCIT:C126872] synonym: "congenital disorder of glycosylation type 1f" EXACT [Orphanet:79323] synonym: "congenital disorder of glycosylation type If" EXACT [Orphanet:79323] synonym: "congenital disorder of glycosylation, type If" RELATED [MONDO:Lexical, OMIM:609180] synonym: "MPDU1-CDG" EXACT ABBREVIATION [Orphanet:79323] synonym: "MPDU1-CDG (CDG-If)" RELATED [GARD:0009832] xref: DOID:0080558 {source="MONDO:equivalentTo"} xref: MESH:C535744 {source="MONDO:equivalentTo"} xref: NCIT:C126872 {source="MONDO:equivalentTo"} xref: OMIM:609180 {source="Orphanet:79323/e", source="MONDO:equivalentTo", source="Orphanet:79323"} xref: Orphanet:79323 {source="OMIM:609180", source="MONDO:equivalentTo"} xref: SCTID:724096007 {source="MONDO:equivalentTo"} xref: UMLS:C1836669 {source="OMIM:609180", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C126872", source="Orphanet:79323"} is_a: EFO:0005545 {source="DC-OMIM:609180"} ! congenital disorder of glycosylation type I is_a: MONDO:0017749 {source="Orphanet:79323"} ! disorder of multiple glycosylation relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch DOID:0080558 property_value: exactMatch http://identifiers.org/mesh/C535744 property_value: exactMatch http://identifiers.org/snomedct/724096007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836669 property_value: exactMatch https://omim.org/entry/609180 property_value: exactMatch NCIT:C126872 property_value: exactMatch Orphanet:79323 property_value: excluded_subClassOf MONDO:0005093 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5682 xsd:anyURI [Term] id: MONDO:0012213 name: hereditary spastic paraplegia 26 def: "A rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1." [Orphanet:101006] subset: ordo_disease {source="Orphanet:101006"} synonym: "autosomal recessive spastic paraplegia 26" EXACT [DOID:0110777] synonym: "autosomal recessive spastic paraplegia type 26" EXACT [DOID:0110777] synonym: "GM2 synthase deficiency" EXACT [DOID:0110777, Orphanet:101006] synonym: "hereditary spastic paraplegia type 26" EXACT [DOID:0110777, MONDORULE:2] synonym: "spastic paraplegia 26" RELATED [GARD:0009587] synonym: "spastic paraplegia 26, autosomal recessive" RELATED [MONDO:Lexical, OMIM:609195] synonym: "SPG26" EXACT ABBREVIATION [DOID:0110777, MONDO:Lexical, OMIM:609195, Orphanet:101006] xref: DOID:0110777 {source="MONDO:equivalentTo"} xref: MESH:C536862 {source="MONDO:equivalentTo", source="Orphanet:101006", source="Orphanet:101006/e"} xref: OMIM:609195 {source="DOID:0110777", source="MONDO:equivalentTo", source="Orphanet:101006", source="Orphanet:101006/e"} xref: Orphanet:101006 {source="DOID:0110777", source="OMIM:609195", source="MONDO:equivalentTo"} xref: SCTID:726607007 {source="MONDO:equivalentTo"} xref: UMLS:C1836632 {source="OMIM:609195", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:101006", source="Orphanet:101006/e"} xref: UMLS:C4511959 {source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:101006"} ! autosomal recessive complex spastic paraplegia property_value: exactMatch DOID:0110777 property_value: exactMatch http://identifiers.org/mesh/C536862 property_value: exactMatch http://identifiers.org/snomedct/726607007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836632 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4511959 property_value: exactMatch https://omim.org/entry/609195 property_value: exactMatch Orphanet:101006 [Term] id: MONDO:0012215 name: myofibrillar myopathy 3 def: "A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years." [Orphanet:98911] subset: gard_rare {source="GARD:0008711"} subset: ordo_disease {source="Orphanet:268129", source="Orphanet:98911"} synonym: "autosomal dominant distal myopathy caused by mutation in MYOT" EXACT [MONDO:design_pattern] synonym: "autosomal dominant limb-girdle muscular dystrophy caused by mutation in MYOT" EXACT [MONDO:design_pattern] synonym: "autosomal dominant limb-girdle muscular dystrophy type 1A" EXACT [MONDO:0008032] synonym: "autosomal dominant spheroid body myopathy" RELATED [GARD:0008711] synonym: "distal myotilinopathy" EXACT [Orphanet:98911] synonym: "LGMD1" RELATED ABBREVIATION [GARD:0010229, OMIM:159000] synonym: "LGMD1A" EXACT ABBREVIATION [DOID:0110300, GARD:0010229, MONDO:Lexical, OMIM:159000, Orphanet:266] synonym: "limb-girdle muscular dystrophy due to myotilin deficiency" EXACT [DOID:0110300, Orphanet:266] synonym: "limb-girdle muscular dystrophy type 1A" RELATED [GARD:0010229] synonym: "MFM3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609200] synonym: "muscular dystrophy limb-girdle type 1A" EXACT [DOID:0110300] synonym: "muscular dystrophy, limb-girdle, type 1A" RELATED [MONDO:Lexical, OMIM:159000] synonym: "muscular dystrophy, proximal, type 1A" RELATED [GARD:0010229, OMIM:159000] synonym: "myofibrillar myopathy type 3" EXACT [DOID:0080094, MONDORULE:1] synonym: "myopathy, myofibrillar, 3" RELATED [MONDO:Lexical, OMIM:609200] synonym: "myopathy, myofibrillar, myotilin-related" RELATED [OMIM:609200] synonym: "myopathy, myofibrillar, type 3" EXACT [MONDORULE:1, OMIM:609200] synonym: "myopathy, spheroid body" RELATED [OMIM:182920] synonym: "MYOT autosomal dominant distal myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "MYOT autosomal dominant limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "myotilinopathy" EXACT [DOID:0080094, OMIM:609200] synonym: "proximal muscular dystrophy type 1A" EXACT [DOID:0110300] synonym: "spheroid body myopathy" EXACT [MONDO:0008448] xref: DOID:0080094 {source="MONDO:equivalentTo"} xref: DOID:0110300 {source="MONDO:equivalentObsolete"} xref: MESH:C000598645 {source="MONDO:equivalentTo"} xref: MESH:C535906 {source="MONDO:equivalentTo"} xref: MESH:C563775 {source="MONDO:equivalentTo"} xref: OMIM:159000 {source="MONDO:equivalentObsolete", source="Orphanet:266/e", source="GARD:0010229", source="DOID:0110300", source="Orphanet:266"} xref: OMIM:182920 {source="MONDO:equivalentObsolete", source="Orphanet:268129", source="Orphanet:268129/e"} xref: OMIM:609200 {source="MONDO:equivalentTo", source="Orphanet:98911", source="Orphanet:98911/e", source="DOID:0080094"} xref: Orphanet:266 {source="OMIM:159000", source="MONDO:equivalentTo", source="GARD:0010229", source="DOID:0110300"} xref: Orphanet:268129 {source="OMIM:182920", source="MONDO:equivalentTo"} xref: Orphanet:98911 {source="MONDO:equivalentTo", source="OMIM:609200"} xref: SCTID:719985001 {source="MONDO:equivalentTo"} xref: SCTID:765092004 {source="MONDO:equivalentTo"} xref: SCTID:765196004 {source="MONDO:equivalentTo"} xref: UMLS:C1834659 {source="OMIM:159000", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="GARD:0010229", source="Orphanet:266"} xref: UMLS:C1836607 {source="MONDO:equivalentObsolete", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609200"} xref: UMLS:C1866785 {source="OMIM:182920", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:268129", source="Orphanet:268129/e"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015151 {source="DOID:0110300", source="MONDO:Redundant", source="OMIM:159000", source="Orphanet:266"} ! muscular dystrophy, limb-girdle, autosomal dominant is_a: MONDO:0016108 {source="MONDO:Redundant", source="Orphanet:98911"} ! autosomal dominant distal myopathy is_a: MONDO:0016201 {source="Orphanet:266", source="Orphanet:98911"} ! qualitative or quantitative defects of myotilin is_a: MONDO:0018943 {source="OMIM:182920", source="OMIM:609200", source="Orphanet:268129", source="Orphanet:98911"} ! myofibrillar myopathy property_value: exactMatch DOID:0080094 property_value: exactMatch http://identifiers.org/mesh/C000598645 property_value: exactMatch http://identifiers.org/mesh/C535906 property_value: exactMatch http://identifiers.org/mesh/C563775 property_value: exactMatch http://identifiers.org/snomedct/719985001 property_value: exactMatch http://identifiers.org/snomedct/765092004 property_value: exactMatch http://identifiers.org/snomedct/765196004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834659 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866785 property_value: exactMatch https://omim.org/entry/609200 property_value: exactMatch Orphanet:266 property_value: exactMatch Orphanet:268129 property_value: exactMatch Orphanet:98911 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6203 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10229/limb-girdle-muscular-dystrophy-type-1a xsd:anyURI {source="GARD:0010229"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8711/spheroid-body-myopathy xsd:anyURI {source="GARD:0008711"} [Term] id: MONDO:0012216 name: foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome subset: ordo_disease {source="Orphanet:397618"} synonym: "FHONDA syndrome" EXACT [Orphanet:397618] synonym: "foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome" EXACT [] synonym: "foveal hypoplasia 2" RELATED [MONDO:Lexical, OMIM:609218] synonym: "foveal hypoplasia 2 with optic nerve decussation defects and anterior segment dysgenesis without albinism" RELATED [OMIM:609218] synonym: "foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis" RELATED [OMIM:609218] synonym: "foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis" EXACT [OMIM:609218, OMIM:genemap2] synonym: "foveal hypoplasia type 2" EXACT [MONDORULE:1, OMIM:609218] synonym: "FVH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609218] xref: MESH:C563774 {source="MONDO:equivalentTo"} xref: OMIM:609218 {source="Orphanet:397618/e", source="MONDO:equivalentTo", source="Orphanet:397618"} xref: Orphanet:397618 {source="OMIM:609218", source="MONDO:equivalentTo"} is_a: MONDO:0019216 {source="PMID:33340416"} ! inborn disorder of amino acid transport is_a: MONDO:0020238 {source="Orphanet:397618"} ! inherited vitreous-retinal disease is_a: MONDO:0020249 {source="Orphanet:397618"} ! hereditary optic neuropathy is_a: MONDO:0044203 {source="OMIM:609218"} ! foveal hypoplasia property_value: exactMatch http://identifiers.org/mesh/C563774 property_value: exactMatch https://omim.org/entry/609218 property_value: exactMatch Orphanet:397618 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0012220 name: Griscelli syndrome type 3 def: "A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has material basis in mutation in the MLPH or MYO5A genes." [DOID:0060834, PMID:12148598, PMID:12897212] subset: gard_rare {source="GARD:0009715"} subset: ordo_clinical_subtype {source="Orphanet:79478"} synonym: "Griscelli disease type 3" RELATED [Orphanet:79478] synonym: "Griscelli syndrome type 3" EXACT [] synonym: "Griscelli syndrome, type 3" RELATED [MONDO:Lexical, OMIM:609227] synonym: "Griscelli-PruniC)ras syndrome type 3" EXACT [Orphanet:79478] synonym: "Griscelli-Pruniéras syndrome type 3" EXACT [DOID:0060834] synonym: "Griscelli-Pruni��ras syndrome type 3" EXACT [DOID:0060834] synonym: "GS3" EXACT ABBREVIATION [DOID:0060834, MONDO:Lexical, OMIM:609227] synonym: "hypomelanosis with no immunologic or neurologic manifestations" RELATED [GARD:0009715] xref: DOID:0060834 {source="MONDO:equivalentTo"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:79478/attributed", source="Orphanet:79478/ntbt", source="DOID:0060834", source="Orphanet:79478"} xref: MESH:C537303 {source="Orphanet:79478/e", source="MONDO:equivalentTo", source="DOID:0060834", source="Orphanet:79478"} xref: OMIM:609227 {source="Orphanet:79478/e", source="MONDO:equivalentTo", source="DOID:0060834", source="Orphanet:79478"} xref: Orphanet:79478 {source="MONDO:equivalentTo", source="DOID:0060834", source="OMIM:609227"} xref: UMLS:C1836573 {source="Orphanet:79478/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:0060834", source="OMIM:609227", source="Orphanet:79478"} is_a: MONDO:0018306 {source="DC-OMIM:609227", source="DOID:0060834", source="MONDO:Redundant", source="OMIM:609227", source="Orphanet:79478"} ! Griscelli syndrome property_value: exactMatch DOID:0060834 property_value: exactMatch http://identifiers.org/mesh/C537303 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836573 property_value: exactMatch https://omim.org/entry/609227 property_value: exactMatch Orphanet:79478 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9715/griscelli-syndrome-type-3 xsd:anyURI {source="GARD:0009715"} [Term] id: MONDO:0012221 name: alpha-N-acetylgalactosaminidase deficiency type 1 def: "Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy." [Orphanet:79279] subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:79279"} synonym: "Alpha-N-acetylgalactosaminidase deficiency, type 1" RELATED [OMIM:609241] synonym: "alpha-N-acetylgalactosaminidase deficiency, type 1" RELATED [GARD:0000116] synonym: "Alpha-N-acetylgalactosaminidase deficiency, type 3" RELATED [OMIM:609241] synonym: "N-acetyl-alpha-D-galactosaminidase deficiency type III" RELATED [GARD:0003903] synonym: "NAGA deficiency type 1" EXACT [Orphanet:79279] synonym: "NAGA deficiency, type 1" RELATED [GARD:0000116, OMIM:609241] synonym: "NAGA deficiency, type 3" RELATED [OMIM:609241] synonym: "neuroaxonal dystrophy, Schindler type" RELATED [GARD:0000116, OMIM:609241] synonym: "Schindler disease type 1" EXACT [Orphanet:79279] synonym: "Schindler disease type I" RELATED [GARD:0000116] synonym: "Schindler disease, type 1" RELATED [OMIM:609241] synonym: "Schindler disease, type 3" RELATED [OMIM:609241] synonym: "Schindler disease, type I" RELATED [OMIM:609241] synonym: "Schindler disease, type III" EXACT [OMIM:609241, OMIM:genemap2] xref: DOID:0112318 {source="MONDO:equivalentTo"} xref: OMIM:609241 {source="Orphanet:79279/e", source="GARD:0000116", source="MONDO:equivalentTo", source="GARD:0003903", source="Orphanet:79279"} xref: Orphanet:79279 {source="GARD:0000116", source="MONDO:equivalentTo", source="OMIM:609241"} xref: Orphanet:79281 {source="OMIM:609241", source="MONDO:directSiblingOf"} xref: UMLS:C1836545 {source="OMIM:609241", source="MONDO:directSiblingOf"} is_a: MONDO:0017779 {source="Orphanet:79279"} ! alpha-N-acetylgalactosaminidase deficiency property_value: exactMatch DOID:0112318 property_value: exactMatch https://omim.org/entry/609241 property_value: exactMatch Orphanet:79279 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012222 name: alpha-N-acetylgalactosaminidase deficiency type 2 def: "Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy." [Orphanet:79280] subset: ordo_clinical_subtype {source="Orphanet:79280"} synonym: "adult-onset Alpha-N-acetylgalactosaminidase deficiency" EXACT [Orphanet:79280] synonym: "Alpha-N-acetylgalactosaminidase deficiency adult onset" RELATED [GARD:0009161] synonym: "Alpha-N-acetylgalactosaminidase deficiency, adult-onset" RELATED [OMIM:609242] synonym: "Alpha-N-acetylgalactosaminidase deficiency, type 2" RELATED [OMIM:609242] synonym: "KANZAKI disease" RELATED [OMIM:609242] synonym: "Kanzaki disease" EXACT [Orphanet:79280] synonym: "NAGA deficiency type 2" EXACT [Orphanet:79280] synonym: "Naga deficiency, type 2" RELATED [OMIM:609242] synonym: "Schindler disease type 2" EXACT [Orphanet:79280] synonym: "Schindler disease, type 2" RELATED [OMIM:609242] xref: DOID:0112319 {source="MONDO:equivalentTo"} xref: OMIM:609242 {source="Orphanet:79280", source="MONDO:equivalentTo", source="Orphanet:79280/e"} xref: Orphanet:79280 {source="MONDO:equivalentTo", source="OMIM:609242"} xref: UMLS:C1836522 {source="Orphanet:79280", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609242"} is_a: MONDO:0017779 {source="Orphanet:79280"} ! alpha-N-acetylgalactosaminidase deficiency property_value: exactMatch DOID:0112319 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836522 property_value: exactMatch https://omim.org/entry/609242 property_value: exactMatch Orphanet:79280 [Term] id: MONDO:0012231 name: Charcot-Marie-Tooth disease type 2A2 def: "Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported." [Orphanet:99947] subset: ordo_disease {source="Orphanet:99947"} synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2" EXACT [DOID:0110155] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2A2" RELATED [Orphanet:99947] synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in MFN2" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease type 2A2A" EXACT [NCIT:C150646] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2" RELATED [OMIM:609260] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2A" RELATED [OMIM:609260] synonym: "Charcot-Marie-Tooth disease, axonal, type 2A2" RELATED [MONDO:Lexical, OMIM:609260] synonym: "Charcot-Marie-Tooth disease, axonal, type 2A2A" EXACT [OMIM:609260, OMIM:genemap2] synonym: "Charcot-Marie-Tooth disease, neuronal, type 2A2" RELATED [OMIM:609260] synonym: "Charcot-Marie-Tooth neuronal type 2A2" EXACT [DOID:0110155] synonym: "Charcot-Marie-Tooth neuropathy type 2A2" EXACT [DOID:0110155] synonym: "Charcot-Marie-Tooth neuropathy, type 2A2" RELATED [OMIM:609260] synonym: "CMT2A2" EXACT ABBREVIATION [DOID:0110155, MONDO:Lexical, OMIM:609260, Orphanet:99947] synonym: "CMT2A2A" RELATED ABBREVIATION [OMIM:609260] synonym: "hereditary motor and sensory neuropathy IIA2" EXACT [DOID:0110155] synonym: "hereditary motor and sensory neuropathy IIa2" RELATED [OMIM:609260] synonym: "HMSN IIA2" EXACT [DOID:0110155] synonym: "HMSN IIa2" RELATED [OMIM:609260] synonym: "HMSN2A2" EXACT ABBREVIATION [DOID:0110155] synonym: "MFN2 Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110155 {source="MONDO:equivalentTo"} xref: MESH:C563757 {source="MONDO:equivalentTo"} xref: NCIT:C150646 {source="MONDO:equivalentTo"} xref: OMIM:609260 {source="MONDO:equivalentTo", source="Orphanet:99947", source="DOID:0110155", source="Orphanet:99947/e"} xref: Orphanet:99947 {source="OMIM:609260", source="MONDO:equivalentTo", source="DOID:0110155"} xref: SCTID:764850002 {source="MONDO:equivalentTo"} xref: UMLS:C1836485 {source="OMIM:609260", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:99947"} is_a: MONDO:0018993 {source="DOID:0110155", source="MONDO:Redundant", source="Orphanet:99947"} ! Charcot-Marie-Tooth disease type 2 property_value: exactMatch DOID:0110155 property_value: exactMatch http://identifiers.org/mesh/C563757 property_value: exactMatch http://identifiers.org/snomedct/764850002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836485 property_value: exactMatch https://omim.org/entry/609260 property_value: exactMatch NCIT:C150646 property_value: exactMatch Orphanet:99947 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012235 name: autosomal recessive spinocerebellar ataxia 7 def: "Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements)and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner." [https://rarediseases.info.nih.gov/diseases/12232/spinocerebellar-ataxia-autosomal-recessive-7] subset: gard_rare {source="GARD:0012232"} subset: ordo_disease {source="Orphanet:284324"} synonym: "autosomal recessive spinocerebellar ataxia type 7" EXACT [DOID:0080059, MONDORULE:1, Orphanet:284324] synonym: "childhood onset autosomal recessive slowly progressive spinocerebellar ataxia" RELATED [GARD:0012232] synonym: "childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia" RELATED [Orphanet:284324] synonym: "SCAR7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609270, Orphanet:284324] synonym: "spinocerebellar ataxia autosomal recessive 7" RELATED [GARD:0012232] synonym: "spinocerebellar ataxia, autosomal recessive 7" RELATED [MONDO:Lexical, OMIM:609270] synonym: "spinocerebellar ataxia, autosomal recessive type 7" EXACT [MONDORULE:1, OMIM:609270] xref: DOID:0080059 {source="MONDO:equivalentTo"} xref: MESH:C563753 {source="MONDO:equivalentTo"} xref: OMIM:609270 {source="DOID:0080059", source="MONDO:equivalentTo", source="Orphanet:284324", source="Orphanet:284324/e"} xref: Orphanet:284324 {source="OMIM:609270", source="MONDO:equivalentTo"} xref: UMLS:C1836474 {source="OMIM:609270", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:284324"} is_a: MONDO:0015244 {source="DOID:0080059", source="Orphanet:284324"} ! autosomal recessive cerebellar ataxia property_value: exactMatch DOID:0080059 property_value: exactMatch http://identifiers.org/mesh/C563753 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836474 property_value: exactMatch https://omim.org/entry/609270 property_value: exactMatch Orphanet:284324 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12232/spinocerebellar-ataxia-autosomal-recessive-7 xsd:anyURI {source="GARD:0012232"} [Term] id: MONDO:0012237 name: nemaline myopathy 6 def: "Any nemaline myopathy in which the cause of the disease is a mutation in the KBTBD13 gene." [MONDO:patterns/disease_series_by_gene] synonym: "KBTBD13 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "NEM6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609273] synonym: "nemaline myopathy 6" EXACT [MONDO:Lexical, OMIM:609273] synonym: "nemaline myopathy 6, autosomal dominant" EXACT [DOID:0110935] synonym: "nemaline myopathy caused by mutation in KBTBD13" EXACT [MONDO:design_pattern] synonym: "nemaline myopathy type 6" EXACT [DOID:0110935, MONDORULE:1, OMIM:609273] xref: DOID:0110935 {source="MONDO:equivalentTo"} xref: MESH:C538398 {source="MONDO:equivalentTo"} xref: OMIM:609273 {source="MONDO:equivalentTo", source="DOID:0110935"} xref: UMLS:C1836472 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609273"} is_a: MONDO:0015738 {source="Orphanet:171439/btnt"} ! childhood-onset nemaline myopathy property_value: exactMatch DOID:0110935 property_value: exactMatch http://identifiers.org/mesh/C538398 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836472 property_value: exactMatch https://omim.org/entry/609273 [Term] id: MONDO:0012238 name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 def: "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the SLC25A4 gene." [MONDO:patterns/disease_series_by_gene] synonym: "PEOA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609283] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in SLC25A4" EXACT [MONDO:design_pattern] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2" EXACT [MONDO:Lexical, OMIM:609283] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:609283] synonym: "progressive external ophthalmoplegia, autosomal dominant 2" RELATED [OMIM:609283] synonym: "SLC25A4 progressive external ophthalmoplegia with mitochondrial DNA deletions" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111517 {source="MONDO:equivalentTo"} xref: MESH:C563750 {source="MONDO:equivalentTo"} xref: OMIM:609283 {source="MONDO:equivalentTo"} xref: UMLS:C1836460 {source="OMIM:609283", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0008003 {source="Orphanet:254892/btnt"} ! autosomal dominant progressive external ophthalmoplegia property_value: exactMatch DOID:0111517 property_value: exactMatch http://identifiers.org/mesh/C563750 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836460 property_value: exactMatch https://omim.org/entry/609283 [Term] id: MONDO:0012239 name: congenital myopathy 4B, autosomal recessive def: "Any congenital myopathy in which the cause of the disease is a mutation in the TPM3 gene." [https://orcid.org/0000-0001-5208-3432, MONDO:patterns/disease_series_by_gene] synonym: "NEM1" RELATED ABBREVIATION [OMIM:609284] synonym: "Nem1" RELATED [DOID:0110926, MONDO:Lexical] synonym: "nemaline myopathy 1" RELATED [MONDO:Lexical, OMIM:609284] synonym: "nemaline myopathy 1, autosomal dominant or recessive" RELATED [DOID:0110926] synonym: "nemaline myopathy caused by mutation in TPM3" EXACT [MONDO:design_pattern] synonym: "nemaline myopathy type 1" RELATED [DOID:0110926, MONDORULE:1, OMIM:609284] synonym: "TPM3 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110926 {source="MONDO:equivalentTo"} xref: MESH:C538348 {source="MONDO:equivalentTo"} xref: OMIM:609284 {source="MONDO:equivalentTo", source="DOID:0110926"} xref: Orphanet:171881 {source="MONDO:relatedTo", source="OMIM:609284"} xref: UMLS:C1836448 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609284"} is_a: MONDO:0015736 {source="Orphanet:171433/btnt"} ! intermediate nemaline myopathy is_a: MONDO:0015738 {source="Orphanet:171439/btnt"} ! childhood-onset nemaline myopathy is_a: MONDO:0100108 {comment="https://clinicalgenome.org/docs/clingen-cmp-ep-acgs-collaboration/"} ! TPM3-related myopathy property_value: exactMatch DOID:0110926 property_value: exactMatch http://identifiers.org/mesh/C538348 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836448 property_value: exactMatch https://omim.org/entry/609284 [Term] id: MONDO:0012241 name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 def: "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the TWNK gene." [MONDO:patterns/disease_series_by_gene] synonym: "PEOA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609286] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in TWNK" EXACT [MONDO:design_pattern] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3" EXACT [MONDO:Lexical, OMIM:609286] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 3" EXACT [MONDORULE:1, OMIM:609286] synonym: "progressive external ophthalmoplegia, autosomal dominant 3" RELATED [OMIM:609286] synonym: "TWNK progressive external ophthalmoplegia with mitochondrial DNA deletions" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111520 {source="MONDO:equivalentTo"} xref: MESH:C563747 {source="MONDO:equivalentTo"} xref: OMIM:609286 {source="MONDO:equivalentTo"} xref: UMLS:C1836439 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609286"} is_a: MONDO:0008003 {source="Orphanet:254892/btnt"} ! autosomal dominant progressive external ophthalmoplegia property_value: exactMatch DOID:0111520 property_value: exactMatch http://identifiers.org/mesh/C563747 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836439 property_value: exactMatch https://omim.org/entry/609286 [Term] id: MONDO:0012246 name: spinocerebellar ataxia type 26 def: "Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities." [Orphanet:101112] subset: ordo_disease {source="Orphanet:101112"} synonym: "SCA26" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609306, Orphanet:101112] synonym: "spinocerebellar ataxia 26" RELATED [MONDO:Lexical, OMIM:609306] synonym: "spinocerebellar ataxia type 26" EXACT [MONDORULE:2, OMIM:609306] xref: DOID:0050975 {source="MONDO:equivalentTo"} xref: MESH:C537203 {source="Orphanet:101112", source="MONDO:equivalentTo", source="Orphanet:101112/e"} xref: OMIM:609306 {source="Orphanet:101112", source="DOID:0050975", source="MONDO:equivalentTo", source="Orphanet:101112/e"} xref: Orphanet:101112 {source="OMIM:609306", source="MONDO:equivalentTo"} xref: SCTID:718769009 {source="MONDO:equivalentTo"} xref: UMLS:C1836395 {source="OMIM:609306", source="Orphanet:101112", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:101112/e"} is_a: MONDO:0019793 {source="Orphanet:101112"} ! autosomal dominant cerebellar ataxia type III property_value: exactMatch DOID:0050975 property_value: exactMatch http://identifiers.org/mesh/C537203 property_value: exactMatch http://identifiers.org/snomedct/718769009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836395 property_value: exactMatch https://omim.org/entry/609306 property_value: exactMatch Orphanet:101112 [Term] id: MONDO:0012247 name: spinocerebellar ataxia type 27 def: "Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." [Orphanet:98764] subset: ordo_disease {source="Orphanet:98764"} synonym: "cerebellar ataxia autosomal dominant FGF14-related" RELATED [GARD:0009963] synonym: "cerebellar ataxia, autosomal dominant, Fgf14-related" RELATED [OMIM:609307] synonym: "SCA27" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609307, Orphanet:98764] synonym: "spinocerebellar ataxia 27" RELATED [MONDO:Lexical, OMIM:609307] synonym: "spinocerebellar ataxia type 27" EXACT [MONDORULE:2, OMIM:609307] xref: DOID:0050976 {source="MONDO:equivalentTo"} xref: MESH:C537204 {source="Orphanet:98764", source="MONDO:equivalentTo", source="Orphanet:98764/e"} xref: OMIM:609307 {source="Orphanet:98764", source="MONDO:equivalentObsolete", source="DOID:0050976", source="Orphanet:98764/e"} xref: Orphanet:98764 {source="OMIM:609307", source="MONDO:equivalentTo"} xref: SCTID:719252002 {source="MONDO:equivalentTo"} xref: UMLS:C1836383 {source="OMIM:609307", source="Orphanet:98764", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:98764/e"} xref: UMLS:C4304846 {source="MONDO:equivalentObsolete"} is_a: MONDO:0019792 {source="Orphanet:98764"} ! autosomal dominant cerebellar ataxia type I property_value: exactMatch DOID:0050976 property_value: exactMatch http://identifiers.org/mesh/C537204 property_value: exactMatch http://identifiers.org/snomedct/719252002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836383 property_value: exactMatch Orphanet:98764 [Term] id: MONDO:0012248 name: autosomal recessive limb-girdle muscular dystrophy type 2K def: "Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported." [Orphanet:86812] subset: ordo_disease {source="Orphanet:86812"} synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1" EXACT [MONDO:design_pattern] synonym: "LGMD-POMT1 related" EXACT [https://clinicalgenome.org/affiliation/50061/] synonym: "LGMD2K" EXACT ABBREVIATION [DOID:0110297, Orphanet:86812] synonym: "limb-girdle muscular dystrophy - intellectual disability" RELATED [GARD:0012535] synonym: "limb-girdle muscular dystrophy type 2K" RELATED [GARD:0012535] synonym: "limb-girdle muscular dystrophy-intellectual disability syndrome" EXACT [DOID:0110297, Orphanet:86812] synonym: "MDDGC1" EXACT ABBREVIATION [DOID:0110297, MONDO:Lexical, OMIM:609308] synonym: "muscular dystrophy limb-girdle type 2K" EXACT [DOID:0110297] synonym: "muscular dystrophy, limb-girdle, type 2K" RELATED [OMIM:609308] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1" EXACT [DOID:0110297] synonym: "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1" EXACT [NCIT:C133730] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1" RELATED [MONDO:Lexical, OMIM:609308] synonym: "POMT1 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110297 {source="MONDO:equivalentTo"} xref: EFO:0009145 {source="MONDO:equivalentTo"} xref: NCIT:C133730 {source="MONDO:equivalentTo"} xref: OMIM:609308 {source="MONDO:equivalentTo", source="Orphanet:86812", source="DOID:0110297", source="Orphanet:86812/e"} xref: Orphanet:86812 {source="OMIM:609308", source="MONDO:equivalentTo", source="DOID:0110297"} xref: SCTID:720523006 {source="MONDO:equivalentTo"} is_a: MONDO:0000173 {source="OMIM:609308"} ! muscular dystrophy-dystroglycanopathy, type C is_a: MONDO:0015152 {source="DOID:0110297", source="MONDO:Redundant", source="OMIM:609308", source="Orphanet:86812"} ! autosomal recessive limb-girdle muscular dystrophy is_a: MONDO:0016184 {source="Orphanet:86812"} ! qualitative or quantitative defects of protein O-mannosyltransferase 1 is_a: MONDO:0017745 {source="Orphanet:86812"} ! disorder of O-mannosylglycan synthesis is_a: MONDO:0700070 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in POMT1 property_value: exactMatch DOID:0110297 property_value: exactMatch http://identifiers.org/snomedct/720523006 property_value: exactMatch https://omim.org/entry/609308 property_value: exactMatch NCIT:C133730 property_value: exactMatch Orphanet:86812 [Term] id: MONDO:0012250 name: Charcot-Marie-Tooth disease type 4H def: "Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy" [Orphanet:99954] subset: gard_rare {source="GARD:0012442"} subset: ordo_disease {source="Orphanet:99954"} synonym: "autosomal recessive Charcot-Marie-Tooth disease type 4H" EXACT [DOID:0110192] synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H" EXACT [DOID:0110192] synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in FGD4" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease type 4H" EXACT [] synonym: "Charcot-Marie-Tooth disease, autosomal recessive, type 4H" RELATED [OMIM:609311] synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4H" RELATED [OMIM:609311] synonym: "Charcot-Marie-Tooth disease, type 4H" RELATED [GARD:0012442, MONDO:Lexical, OMIM:609311] synonym: "Charcot-Marie-Tooth neuropathy type 4H" EXACT [DOID:0110192] synonym: "Charcot-Marie-Tooth neuropathy, type 4H" RELATED [OMIM:609311] synonym: "CMT4H" EXACT ABBREVIATION [DOID:0110192, MONDO:Lexical, OMIM:609311, Orphanet:99954] synonym: "FGD4 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110192 {source="MONDO:equivalentTo"} xref: MESH:C563740 {source="MONDO:equivalentTo"} xref: OMIM:609311 {source="DOID:0110192", source="Orphanet:99954", source="MONDO:equivalentTo", source="Orphanet:99954/e"} xref: Orphanet:99954 {source="DOID:0110192", source="MONDO:equivalentTo", source="OMIM:609311"} xref: SCTID:715802008 {source="MONDO:equivalentTo"} xref: UMLS:C1836336 {source="Orphanet:99954", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609311"} is_a: MONDO:0018995 {source="DOID:0110192", source="MONDO:Redundant", source="Orphanet:99954"} ! Charcot-Marie-Tooth disease type 4 property_value: exactMatch DOID:0110192 property_value: exactMatch http://identifiers.org/mesh/C563740 property_value: exactMatch http://identifiers.org/snomedct/715802008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836336 property_value: exactMatch https://omim.org/entry/609311 property_value: exactMatch Orphanet:99954 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12442/charcot-marie-tooth-disease-type-4h xsd:anyURI {source="GARD:0012442"} [Term] id: MONDO:0012251 name: MEDNIK syndrome def: "MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia)." [Orphanet:171851] subset: ordo_disease {source="Orphanet:171851"} synonym: "erythrokeratodermia variabilis 3" EXACT [DOID:0060483, OMIM:609313, Orphanet:171851] synonym: "erythrokeratodermia variabilis, Kamouraska type" EXACT [DOID:0060483, OMIM:609313, Orphanet:171851] synonym: "intellectual disability, enteropathy, deafness, neuropathy, ichthyosis, keratodermia" EXACT [DOID:0060483] synonym: "intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma" RELATED [MONDO:Lexical, OMIM:609313] synonym: "intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome" EXACT [Orphanet:171851] synonym: "MEDNIK" RELATED DEPRECATED [MONDO:Lexical, OMIM:609313] synonym: "mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia" EXACT DEPRECATED [DOID:0060483] synonym: "mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma" RELATED DEPRECATED [MONDO:Lexical, OMIM:609313] xref: DOID:0060483 {source="MONDO:equivalentTo"} xref: MESH:C563739 {source="MONDO:equivalentTo"} xref: OMIM:609313 {source="Orphanet:171851/e", source="DOID:0060483", source="MONDO:equivalentTo", source="Orphanet:171851"} xref: Orphanet:171851 {source="DOID:0060483", source="MONDO:equivalentTo", source="OMIM:609313"} xref: SCTID:722035007 {source="MONDO:equivalentTo"} xref: UMLS:C1836330 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:171851", source="OMIM:609313"} xref: UMLS:CN229776 {source="MONDO:equivalentTo"} is_a: MONDO:0017270 ! autosomal ichthyosis syndrome is_a: MONDO:0017762 {source="Orphanet:171851"} ! disorder of copper metabolism is_a: MONDO:0019270 {source="Orphanet:171851"} ! erythrokeratoderma property_value: exactMatch DOID:0060483 property_value: exactMatch http://identifiers.org/mesh/C563739 property_value: exactMatch http://identifiers.org/snomedct/722035007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836330 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229776 property_value: exactMatch https://omim.org/entry/609313 property_value: exactMatch Orphanet:171851 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:171851"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0012253 name: multiple epiphyseal dysplasia, with severe proximal femoral dysplasia def: "Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated." [Orphanet:166029] subset: ordo_disease {source="Orphanet:166029"} synonym: "epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia" RELATED [OMIM:609324] xref: ICD10CM:Q77.3 {source="MONDO:relatedTo", source="Orphanet:166029", source="Orphanet:166029/attributed", source="Orphanet:166029/ntbt"} xref: MESH:C563736 {source="MONDO:equivalentTo"} xref: OMIM:609324 {source="MONDO:equivalentTo", source="Orphanet:166029", source="Orphanet:166029/e"} xref: Orphanet:166029 {source="MONDO:equivalentTo", source="OMIM:609324"} xref: UMLS:C1836315 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:166029", source="OMIM:609324"} is_a: MONDO:0016648 {source="Orphanet:166029"} ! multiple epiphyseal dysplasia property_value: exactMatch http://identifiers.org/mesh/C563736 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836315 property_value: exactMatch https://omim.org/entry/609324 property_value: exactMatch Orphanet:166029 [Term] id: MONDO:0012254 name: multiple epiphyseal dysplasia, with miniepiphyses def: "Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported." [Orphanet:166032] subset: ordo_disease {source="Orphanet:166032"} synonym: "epiphyseal dysplasia, multiple, with miniepiphyses" RELATED [OMIM:609325] xref: ICD10CM:Q77.3 {source="Orphanet:166032", source="MONDO:relatedTo", source="Orphanet:166032/attributed", source="Orphanet:166032/ntbt"} xref: MESH:C563735 {source="MONDO:equivalentTo"} xref: OMIM:609325 {source="Orphanet:166032", source="MONDO:equivalentTo", source="Orphanet:166032/e"} xref: Orphanet:166032 {source="MONDO:equivalentTo", source="OMIM:609325"} xref: UMLS:C1836307 {source="Orphanet:166032", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609325"} is_a: MONDO:0016648 {source="Orphanet:166032"} ! multiple epiphyseal dysplasia property_value: exactMatch http://identifiers.org/mesh/C563735 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836307 property_value: exactMatch https://omim.org/entry/609325 property_value: exactMatch Orphanet:166032 [Term] id: MONDO:0012256 name: hereditary spastic paraplegia 28 def: "Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations reported include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs." [Orphanet:101008] subset: ordo_disease {source="Orphanet:101008"} synonym: "autosomal recessive pure spastic paraplegia caused by mutation in DDHD1" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 28" EXACT [DOID:0110779] synonym: "autosomal recessive spastic paraplegia type 28" EXACT [DOID:0110779] synonym: "DDHD1 autosomal recessive pure spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary spastic paraplegia 28" EXACT [] synonym: "hereditary spastic paraplegia type 28" EXACT [DOID:0110779, MONDORULE:2] synonym: "spastic paraplegia 28, autosomal recessive" RELATED [MONDO:Lexical, OMIM:609340] synonym: "SPG28" EXACT ABBREVIATION [DOID:0110779, MONDO:Lexical, OMIM:609340, Orphanet:101008] xref: DOID:0110779 {source="MONDO:equivalentTo"} xref: MESH:C563732 {source="MONDO:equivalentTo"} xref: OMIM:609340 {source="DOID:0110779", source="MONDO:equivalentTo", source="Orphanet:101008", source="Orphanet:101008/e"} xref: Orphanet:101008 {source="DOID:0110779", source="MONDO:equivalentTo", source="OMIM:609340"} xref: SCTID:763376002 {source="MONDO:equivalentTo"} xref: UMLS:C1836295 {source="MONDO:equivalentTo", source="OMIM:609340", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:101008"} is_a: MONDO:0015090 {source="MONDO:Redundant", source="Orphanet:101008"} ! autosomal recessive pure spastic paraplegia property_value: exactMatch DOID:0110779 property_value: exactMatch http://identifiers.org/mesh/C563732 property_value: exactMatch http://identifiers.org/snomedct/763376002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836295 property_value: exactMatch https://omim.org/entry/609340 property_value: exactMatch Orphanet:101008 [Term] id: MONDO:0012257 name: Cerebrorenodigital syndrome subset: ordo_malformation_syndrome {source="Orphanet:1396"} synonym: "CEREBRORENODIGITAL syndrome with limb malformations and triradiate acetabula" RELATED [OMIM:609345] xref: MESH:C563731 {source="MONDO:equivalentTo"} xref: OMIM:609345 {source="Orphanet:1396", source="MONDO:equivalentTo", source="Orphanet:1396/e"} xref: Orphanet:1396 {source="MONDO:equivalentObsolete", source="OMIM:609345"} xref: UMLS:C1836287 {source="Orphanet:1396", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609345"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: exactMatch http://identifiers.org/mesh/C563731 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836287 property_value: exactMatch https://omim.org/entry/609345 property_value: excluded_subClassOf MONDO:0019721 {source="Orphanet:1396"} property_value: excluded_subClassOf MONDO:0019741 {source="Orphanet:1396"} [Term] id: MONDO:0012258 name: epidermolysis bullosa simplex 2E, with migratory circinate erythema def: "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema." [https://orcid.org/0000-0001-5208-3432, Orphanet:158681] subset: ordo_disease {source="Orphanet:158681"} synonym: "EBS-migr" EXACT [Orphanet:158681] synonym: "epidermolysis bullosa simplex 2E, with migratory circinate erythema" EXACT [OMIM:609352, OMIM:genemap2] synonym: "epidermolysis bullosa simplex with migratory circinate erythema" EXACT [OMIM:609352] xref: MESH:C563730 {source="MONDO:equivalentTo"} xref: OMIM:609352 {source="Orphanet:158681/e", source="MONDO:equivalentTo", source="Orphanet:158681"} xref: Orphanet:158681 {source="MONDO:equivalentTo", source="OMIM:609352"} xref: SCTID:716700003 {source="MONDO:equivalentTo"} xref: UMLS:C1836284 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609352", source="Orphanet:158681"} is_a: MONDO:0017610 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex property_value: exactMatch http://identifiers.org/mesh/C563730 property_value: exactMatch http://identifiers.org/snomedct/716700003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836284 property_value: exactMatch https://omim.org/entry/609352 property_value: exactMatch Orphanet:158681 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4499 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012269 name: chromosome 3q29 microdeletion syndrome def: "3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features." [Orphanet:65286] subset: ordo_malformation_syndrome {source="Orphanet:65286"} synonym: "3q subtelomere deletion syndrome" EXACT [DOID:0060419, Orphanet:65286] synonym: "3q29 deletion" RELATED [GARD:0011974] synonym: "3q29 deletion syndrome" RELATED [GARD:0011974] synonym: "3q29 microdeletion syndrome" EXACT [DOID:0060419] synonym: "3qter deletion" EXACT [DOID:0060419, Orphanet:65286] synonym: "chromosome 3q29 deletion syndrome" RELATED [OMIM:609425] synonym: "chromosome 3q29 microdeletion syndrome, isolated cases" EXACT [OMIM:609425, OMIM:genemap2] synonym: "Del(3)(q29)" EXACT [Orphanet:65286] synonym: "microdeletion 3Q29 syndrome" RELATED [OMIM:609425] synonym: "monosomy 3q29" EXACT [Orphanet:65286] synonym: "monosomy 3qter" EXACT [Orphanet:65286] xref: DECIPHER:37 {source="MONDO:equivalentTo"} xref: DOID:0060419 {source="MONDO:equivalentTo"} xref: MESH:C567184 {source="MONDO:equivalentTo", source="DOID:0060419"} xref: OMIM:609425 {source="Orphanet:65286/e", source="MONDO:equivalentTo", source="DOID:0060419", source="Orphanet:65286"} xref: Orphanet:65286 {source="MONDO:equivalentTo", source="DOID:0060419", source="OMIM:609425"} xref: SCTID:716456000 {source="MONDO:equivalentTo"} xref: UMLS:C2674949 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:65286", source="OMIM:609425"} is_a: MONDO:0016902 {source="Orphanet:65286"} ! partial deletion of the long arm of chromosome 3 property_value: exactMatch DOID:0060419 property_value: exactMatch http://identifiers.org/mesh/C567184 property_value: exactMatch http://identifiers.org/snomedct/716456000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2674949 property_value: exactMatch https://omim.org/entry/609425 property_value: exactMatch Orphanet:65286 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012271 name: mesoaxial synostotic syndactyly with phalangeal reduction def: "Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly." [Orphanet:157801] subset: ordo_morphological_anomaly {source="Orphanet:157801"} synonym: "MSSD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609432, Orphanet:157801] synonym: "syndactyly Malik-Percin type" RELATED [GARD:0010590] synonym: "syndactyly mesoaxial synostotic with phalangeal reduction" RELATED [GARD:0010590] synonym: "syndactyly type 9" EXACT [Orphanet:157801] synonym: "syndactyly, Malik-Percin type" EXACT [OMIM:609432, Orphanet:157801] synonym: "syndactyly, mesoaxial synostotic, with phalangeal reduction" RELATED [MONDO:Lexical, OMIM:609432] synonym: "syndactyly, type 9" RELATED [OMIM:609432] xref: MESH:C563721 {source="MONDO:equivalentTo"} xref: OMIM:609432 {source="MONDO:equivalentTo", source="Orphanet:157801", source="Orphanet:157801/e"} xref: Orphanet:157801 {source="MONDO:equivalentTo", source="OMIM:609432"} xref: SCTID:724170007 {source="MONDO:equivalentTo"} xref: UMLS:C1836206 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:157801", source="OMIM:609432"} is_a: MONDO:0019530 {source="Orphanet:157801"} ! non-syndromic syndactyly is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism property_value: exactMatch http://identifiers.org/mesh/C563721 property_value: exactMatch http://identifiers.org/snomedct/724170007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836206 property_value: exactMatch https://omim.org/entry/609432 property_value: exactMatch Orphanet:157801 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0012274 name: acromesomelic dysplasia 3 subset: gard_rare synonym: "acromesomelic dysplasia 3" EXACT [OMIM:609441, OMIM:genemap2] synonym: "acromesomelic dysplasia, Demirhan type" EXACT [MONDO:Lexical, OMIM:609441] synonym: "AMDD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609441] synonym: "chondrodysplasia acromesomelic with genital anomalies" RELATED [GARD:0010077] synonym: "chondrodysplasia, acromesomelic, with or without genital anomalies" EXACT [OMIM:609441] xref: DOID:0081237 {source="MONDO:equivalentTo"} xref: MESH:C537913 {source="MONDO:equivalentTo"} xref: OMIM:609441 {source="GARD:0010077", source="MONDO:equivalentTo"} is_a: MONDO:0019696 {source="PMID:31633310"} ! acromesomelic dysplasia property_value: exactMatch DOID:0081237 property_value: exactMatch http://identifiers.org/mesh/C537913 property_value: exactMatch https://omim.org/entry/609441 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10077/chondrodysplasia-acromesomelic-with-genital-anomalies xsd:anyURI {source="GARD:0010077"} [Term] id: MONDO:0012276 name: generalized epilepsy-paroxysmal dyskinesia syndrome def: "Generalized epilepsy-paroxysmal dyskinesia syndrome is characterized by the association of paroxysmal dyskinesia and generalized epilepsy (usually absence or generalized tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant." [Orphanet:79137] subset: ordo_disease {source="Orphanet:79137"} synonym: "epilepsy, generalized, with paroxysmal dyskinesia" RELATED [OMIM:609446] synonym: "generalised epilepsy and paroxysmal dyskinesia" RELATED OMO:0003005 [] synonym: "generalized epilepsy and paroxysmal dyskinesia" RELATED [MONDO:Lexical, OMIM:609446] synonym: "GEPD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609446, Orphanet:79137] synonym: "paroxysmal nonkinesigenic dyskinesia, 3, with or without generalised epilepsy" RELATED OMO:0003005 [] synonym: "paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy" RELATED [OMIM:609446] synonym: "PNKD3" RELATED ABBREVIATION [OMIM:609446] xref: MESH:C563719 {source="MONDO:equivalentTo"} xref: OMIM:609446 {source="Orphanet:79137/e", source="MONDO:equivalentTo", source="Orphanet:79137"} xref: Orphanet:79137 {source="MONDO:equivalentTo", source="OMIM:609446"} xref: UMLS:C1836173 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:79137", source="OMIM:609446"} is_a: MONDO:0017704 {source="Orphanet:79137"} ! familial partial epilepsy property_value: exactMatch http://identifiers.org/mesh/C563719 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836173 property_value: exactMatch https://omim.org/entry/609446 property_value: exactMatch Orphanet:79137 [Term] id: MONDO:0012277 name: myofibrillar myopathy 4 def: "Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases." [Orphanet:98912] subset: ordo_disease {source="Orphanet:98912"} synonym: "late-onset distal myopathy, Markesbery-Griggs type" RELATED [Orphanet:98912] synonym: "LDB3 myofibrillar myopathy (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "MFM4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609452] synonym: "myofibrillar myopathy (disease) caused by mutation in LDB3" EXACT [] synonym: "myofibrillar myopathy type 4" EXACT [DOID:0080095, MONDORULE:1] synonym: "myopathy, myofibrillar, 4" RELATED [MONDO:Lexical, OMIM:609452] synonym: "myopathy, myofibrillar, type 4" EXACT [MONDORULE:1, OMIM:609452] synonym: "ZASP-related myofibrillar myopathy" EXACT [Orphanet:98912] synonym: "zaspopathy" EXACT [DOID:0080095] xref: DOID:0080095 {source="MONDO:equivalentTo"} xref: MESH:C563718 {source="MONDO:equivalentTo"} xref: OMIM:609452 {source="MONDO:equivalentTo", source="Orphanet:98912", source="Orphanet:98912/e", source="DOID:0080095"} xref: Orphanet:98912 {source="MONDO:equivalentTo", source="OMIM:609452"} xref: UMLS:C1836155 {source="MONDO:equivalentTo", source="Orphanet:98912", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609452"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0016108 {source="Orphanet:98912"} ! autosomal dominant distal myopathy is_a: MONDO:0016190 {source="Orphanet:98912"} ! qualitative or quantitative defects of protein ZASP is_a: MONDO:0018943 {source="MONDO:Redundant", source="OMIM:609452", source="Orphanet:98912"} ! myofibrillar myopathy property_value: exactMatch DOID:0080095 property_value: exactMatch http://identifiers.org/mesh/C563718 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836155 property_value: exactMatch https://omim.org/entry/609452 property_value: exactMatch Orphanet:98912 [Term] id: MONDO:0012280 name: Goldberg-Shprintzen megacolon syndrome def: "Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability." [Orphanet:66629] subset: ordo_malformation_syndrome {source="Orphanet:66629"} synonym: "Goldberg-Shprintzen megacolon syndrome" EXACT [DOID:0060481, OMIM:609460] synonym: "Goldberg-Shprintzen syndrome" RELATED [MONDO:Lexical, OMIM:609460] synonym: "GOSHS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609460, Orphanet:66629] synonym: "megacolon-microcephaly syndrome" EXACT [Orphanet:66629] xref: DOID:0060481 {source="MONDO:equivalentTo"} xref: MESH:C537279 {source="MONDO:equivalentTo", source="Orphanet:66629", source="Orphanet:66629/e", source="DOID:0060481"} xref: OMIM:609460 {source="MONDO:equivalentTo", source="Orphanet:66629", source="Orphanet:66629/e", source="DOID:0060481"} xref: Orphanet:66629 {source="MONDO:equivalentTo", source="OMIM:609460", source="DOID:0060481"} xref: SCTID:717822006 {source="MONDO:equivalentTo"} xref: UMLS:C1836123 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609460", source="Orphanet:66629", source="Orphanet:66629/e", source="DOID:0060481"} is_a: MONDO:0015159 {source="Orphanet:66629"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015246 {source="Orphanet:66629"} ! syndromic anorectal malformation is_a: MONDO:0020158 {source="MONDO:0020169-obsoleted"} ! eyelids malposition disorder is_a: MONDO:0021189 {source="Orphanet:66629"} ! intestinal motility disease property_value: exactMatch DOID:0060481 property_value: exactMatch http://identifiers.org/mesh/C537279 property_value: exactMatch http://identifiers.org/snomedct/717822006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836123 property_value: exactMatch https://omim.org/entry/609460 property_value: exactMatch Orphanet:66629 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:66629"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0012282 name: Al-Gazali syndrome def: "An autosomal recessive syndrome characterized by joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality." [https://orcid.org/0000-0001-5208-3432, PMID:10319196] subset: gard_rare {source="GARD:0010054"} subset: ordo_malformation_syndrome synonym: "Al Gazali Al Talabani syndrome" RELATED [GARD:0010054] synonym: "Al Gazali syndrome" RELATED [GARD:0010054] synonym: "Al-Gazali syndrome" EXACT [OMIM:609465] synonym: "eye defects arachnodactyly cardiopathy" RELATED [GARD:0010054] xref: MESH:C536817 {source="MONDO:equivalentTo"} xref: OMIM:609465 {source="MONDO:equivalentTo", source="Orphanet:2725"} xref: Orphanet:2725 {source="MONDO:equivalentTo", source="OMIM:609465"} xref: UMLS:C1836121 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609465"} is_a: MONDO:0018454 ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation property_value: exactMatch http://identifiers.org/mesh/C536817 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836121 property_value: exactMatch https://omim.org/entry/609465 property_value: exactMatch Orphanet:2725 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10054/al-gazali-syndrome xsd:anyURI {source="GARD:0010054"} [Term] id: MONDO:0012289 name: myofibrillar myopathy 5 def: "Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases." [Orphanet:171445] subset: ordo_disease {source="Orphanet:171445"} synonym: "filaminopathy" EXACT [DOID:0080096] synonym: "filaminopathy, autosomal dominant" RELATED [OMIM:609524] synonym: "FLNC myofibrillar myopathy (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "MFM5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609524] synonym: "muscle filaminopathy" RELATED [Orphanet:171445] synonym: "myofibrillar myopathy (disease) caused by mutation in FLNC" EXACT [] synonym: "myofibrillar myopathy 5" EXACT [] synonym: "myofibrillar myopathy type 5" EXACT [DOID:0080096, MONDORULE:1] synonym: "myopathy, myofibrillar, 5" RELATED [MONDO:Lexical, OMIM:609524] synonym: "myopathy, myofibrillar, filamin C-related" RELATED [OMIM:609524] synonym: "myopathy, myofibrillar, type 5" EXACT [MONDORULE:1, OMIM:609524] xref: DOID:0080096 {source="MONDO:equivalentTo"} xref: MESH:C537932 {source="MONDO:equivalentTo"} xref: OMIM:609524 {source="DOID:0080096", source="Orphanet:171445/e", source="MONDO:equivalentTo", source="Orphanet:171445"} xref: Orphanet:171445 {source="MONDO:equivalentTo", source="OMIM:609524"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0016189 {source="Orphanet:171445"} ! qualitative or quantitative defects of filamin C is_a: MONDO:0018943 {source="MONDO:Redundant", source="OMIM:609524", source="Orphanet:171445"} ! myofibrillar myopathy property_value: exactMatch DOID:0080096 property_value: exactMatch http://identifiers.org/mesh/C537932 property_value: exactMatch https://omim.org/entry/609524 property_value: exactMatch Orphanet:171445 [Term] id: MONDO:0012290 name: CEDNIK syndrome def: "CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis." [Orphanet:66631] subset: ordo_disease {source="Orphanet:66631"} synonym: "CEDNIK syndrome" EXACT [OMIM:609528] synonym: "cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome" EXACT [DOID:0060337, OMIM:609528] synonym: "cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome" RELATED [OMIM:609528] synonym: "cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome" EXACT [Orphanet:66631] xref: DOID:0060337 {source="MONDO:equivalentTo"} xref: MESH:C537943 {source="MONDO:equivalentTo", source="DOID:0060337"} xref: OMIM:609528 {source="Orphanet:66631", source="MONDO:equivalentTo", source="Orphanet:66631/e", source="DOID:0060337"} xref: Orphanet:66631 {source="OMIM:609528", source="MONDO:equivalentTo", source="DOID:0060337"} xref: SCTID:722385008 {source="MONDO:equivalentTo"} xref: UMLS:C1836033 {source="Orphanet:66631", source="OMIM:609528", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:0060337"} is_a: MONDO:0017270 ! autosomal ichthyosis syndrome is_a: MONDO:0017666 {source="Orphanet:66631-generalized-by-cjm", source="Orphanet:66631/inferred", source="https://github.com/monarch-initiative/mondo-build/issues/49"} ! diffuse palmoplantar keratoderma property_value: exactMatch DOID:0060337 property_value: exactMatch http://identifiers.org/mesh/C537943 property_value: exactMatch http://identifiers.org/snomedct/722385008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836033 property_value: exactMatch https://omim.org/entry/609528 property_value: exactMatch Orphanet:66631 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:66631"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0012296 name: lipomyelomeningocele def: "Lipomyelomeningocele is a rare neural tube closure defect characterized by a subcutaneous lipoma that extends through a defect in the lumbodorsal fascia, vertebral neural arch, and dura. This painless lesion can occur anywhere along the spinal canal but usually is found in the sacral or lumbar region. If left untreated it can cause tethered cord syndrome." [Orphanet:268835] subset: gard_rare {source="GARD:0010053"} subset: ordo_morphological_anomaly {source="Orphanet:268835"} synonym: "familial lipomyelomeningocele" RELATED [GARD:0010053] synonym: "lipomyelomeningocele" EXACT [OMIM:609537] xref: ICD9:214.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537030 {source="MONDO:equivalentTo"} xref: OMIM:609537 {source="MONDO:equivalentTo"} xref: Orphanet:268835 {source="MONDO:equivalentTo"} xref: SCTID:104431000119107 {source="MONDO:equivalentTo"} xref: UMLS:C1836022 {source="OMIM:609537", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:268835", source="Orphanet:268835/e"} is_a: MONDO:0017059 {source="MONDO:0017083-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neural tube closure defect property_value: exactMatch http://identifiers.org/mesh/C537030 property_value: exactMatch http://identifiers.org/snomedct/104431000119107 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836022 property_value: exactMatch https://omim.org/entry/609537 property_value: exactMatch Orphanet:268835 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10053/lipomyelomeningocele xsd:anyURI {source="GARD:0010053"} [Term] id: MONDO:0012297 name: SPOAN syndrome def: "A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2." [Orphanet:320406] subset: ordo_disease {source="Orphanet:320406"} synonym: "spastic paraplegia, optic atrophy, and neuropathy" RELATED [MONDO:Lexical, OMIM:609541] synonym: "spastic paraplegia, optic atropy, and neuropathy" EXACT [DOID:0060491] synonym: "spastic paraplegia, optic atropy, and neuropathy syndrome" EXACT [DOID:0060491] synonym: "spastic paraplegia-optic atrophy-neuropathy syndrome" RELATED [Orphanet:320406] synonym: "SPOAN" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609541, Orphanet:320406] xref: DOID:0060491 {source="MONDO:equivalentTo"} xref: MESH:C563702 {source="MONDO:equivalentTo", source="DOID:0060491"} xref: OMIM:609541 {source="Orphanet:320406/e", source="MONDO:equivalentTo", source="Orphanet:320406", source="DOID:0060491"} xref: Orphanet:320406 {source="MONDO:equivalentTo", source="OMIM:609541", source="DOID:0060491"} xref: UMLS:C1836010 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:320406", source="OMIM:609541"} is_a: MONDO:0018550 {source="Orphanet:320406"} ! spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder property_value: exactMatch DOID:0060491 property_value: exactMatch http://identifiers.org/mesh/C563702 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836010 property_value: exactMatch https://omim.org/entry/609541 property_value: exactMatch Orphanet:320406 [Term] id: MONDO:0012301 name: mitochondrial DNA depletion syndrome, myopathic form def: "Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive." [Orphanet:254875] subset: ordo_disease {source="Orphanet:254875"} synonym: "mitochondrial DNA depletion myopathy, Tk2-related" RELATED [OMIM:609560] synonym: "mitochondrial DNA depletion syndrome 2" RELATED [DOID:0080120] synonym: "mitochondrial DNA depletion syndrome 2 (myopathic type)" RELATED [MONDO:Lexical, OMIM:609560] synonym: "mitochondrial DNA depletion syndrome type 2" EXACT [DOID:0080120, MONDORULE:1] synonym: "mtDNA depletion syndrome, myopathic form" EXACT [Orphanet:254875] synonym: "MTDPS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609560] xref: DOID:0080120 {source="MONDO:equivalentTo"} xref: ICD9:359.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563698 {source="MONDO:equivalentTo"} xref: OMIM:609560 {source="DOID:0080120", source="MONDO:equivalentTo", source="Orphanet:254875", source="Orphanet:254875/e"} xref: Orphanet:254875 {source="MONDO:equivalentTo", source="OMIM:609560"} xref: SCTID:703527003 {source="MONDO:equivalentTo"} xref: UMLS:C3501891 {source="MONDO:equivalentTo", source="Orphanet:254875"} is_a: MONDO:0018158 {source="DC-OMIM:609560", source="OMIM:609560", source="Orphanet:254875"} ! mitochondrial DNA depletion syndrome is_a: MONDO:0019238 {source="Orphanet:254875"} ! inborn disorder of pyrimidine metabolism property_value: exactMatch DOID:0080120 property_value: exactMatch http://identifiers.org/mesh/C563698 property_value: exactMatch http://identifiers.org/snomedct/703527003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3501891 property_value: exactMatch https://omim.org/entry/609560 property_value: exactMatch Orphanet:254875 [Term] id: MONDO:0012307 name: familial scaphocephaly syndrome, McGillivray type def: "Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability." [Orphanet:168624] subset: ordo_malformation_syndrome {source="Orphanet:168624"} synonym: "scaphocephaly, maxillary retrusion, and intellectual disability" RELATED [OMIM:609579] synonym: "scaphocephaly, maxillary retrusion, and mental retardation" RELATED DEPRECATED [OMIM:609579] synonym: "scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome" EXACT [Orphanet:168624] xref: MESH:C566511 {source="MONDO:equivalentTo"} xref: OMIM:609579 {source="MONDO:equivalentTo", source="Orphanet:168624", source="Orphanet:168624/e"} xref: Orphanet:168624 {source="MONDO:equivalentTo", source="OMIM:609579"} xref: UMLS:C1865070 {source="MONDO:equivalentTo", source="Orphanet:168624", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609579"} is_a: MONDO:0015704 {source="Orphanet:168624"} ! familial scaphocephaly syndrome property_value: exactMatch http://identifiers.org/mesh/C566511 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865070 property_value: exactMatch https://omim.org/entry/609579 property_value: exactMatch Orphanet:168624 [Term] id: MONDO:0012308 name: Joubert syndrome with renal defect def: "A rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." [Orphanet:220497] subset: gard_rare subset: ordo_disease {source="Orphanet:220497"} synonym: "JBTS4" EXACT ABBREVIATION [DOID:0110999, GARD:0010169, MONDO:Lexical, OMIM:609583] synonym: "Joubert syndrome 4" RELATED [GARD:0010169, MONDO:Lexical, OMIM:609583] synonym: "Joubert syndrome type 4" EXACT [DOID:0110999, MONDORULE:1, OMIM:609583] synonym: "Joubert syndrome with renal anomalies" RELATED [GARD:0010169] synonym: "JS-R" EXACT [Orphanet:220497] xref: DOID:0110999 {source="MONDO:equivalentTo"} xref: MESH:C536296 {source="MONDO:equivalentTo"} xref: NCIT:C74997 {source="MONDO:equivalentTo"} xref: OMIM:609583 {source="DOID:0110999", source="Orphanet:220497", source="MONDO:equivalentTo", source="GARD:0010169", source="Orphanet:220497/e"} xref: Orphanet:220497 {source="MONDO:equivalentTo", source="OMIM:609583"} xref: SCTID:716999001 {source="MONDO:equivalentTo"} is_a: MONDO:0018772 {source="DC-OMIM:609583", source="DOID:0110999", source="NCIT:C74997", source="OMIM:609583"} ! Joubert syndrome relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation property_value: exactMatch DOID:0110999 property_value: exactMatch http://identifiers.org/mesh/C536296 property_value: exactMatch http://identifiers.org/snomedct/716999001 property_value: exactMatch https://omim.org/entry/609583 property_value: exactMatch NCIT:C74997 property_value: exactMatch Orphanet:220497 property_value: excluded_subClassOf MONDO:0019741 {source="Orphanet:220497"} property_value: excluded_subClassOf MONDO:0020022 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10169/joubert-syndrome-with-renal-anomalies xsd:anyURI {source="GARD:0010169"} [Term] id: MONDO:0012315 name: distal 10q deletion syndrome def: "Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay." [Orphanet:96148] subset: ordo_malformation_syndrome {source="Orphanet:96148"} synonym: "10q deletion" RELATED [GARD:0003711] synonym: "10q monosomy" RELATED [GARD:0003711] synonym: "chromosome 10q deletion" RELATED [GARD:0003711] synonym: "chromosome 10q26 deletion syndrome" EXACT [DOID:0060390, OMIM:609625] synonym: "deletion 10q" RELATED [GARD:0003711] synonym: "distal deletion 10q" EXACT [Orphanet:96148] synonym: "distal monosomy 10q" EXACT [DOID:0060390] synonym: "distal monosomy type 10q" EXACT [MONDORULE:4, Orphanet:96148] synonym: "monosomy 10q" RELATED [GARD:0003711] synonym: "monosomy 10qter" EXACT [DOID:0060390, Orphanet:96148] synonym: "partial monosomy 10q" RELATED [GARD:0003711] synonym: "telomeric deletion 10q" EXACT [DOID:0060390, Orphanet:96148] synonym: "terminal chromosome 10Q26 deletion syndrome" RELATED [OMIM:609625] synonym: "terminal chromosome 10q26 deletion syndrome" EXACT [DOID:0060390] xref: DOID:0060390 {source="MONDO:equivalentTo"} xref: MESH:C567182 {source="MONDO:equivalentTo", source="DOID:0060390"} xref: OMIM:609625 {source="Orphanet:96148", source="MONDO:equivalentTo", source="DOID:0060390", source="Orphanet:96148/e"} xref: Orphanet:96148 {source="OMIM:609625", source="MONDO:equivalentTo", source="DOID:0060390"} xref: SCTID:718687003 {source="MONDO:equivalentTo"} xref: UMLS:C2674937 {source="OMIM:609625", source="Orphanet:96148", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4305277 {source="MONDO:equivalentTo"} is_a: MONDO:0016909 {source="Orphanet:96148"} ! partial monosomy of the long arm of chromosome 10 property_value: exactMatch DOID:0060390 property_value: exactMatch http://identifiers.org/mesh/C567182 property_value: exactMatch http://identifiers.org/snomedct/718687003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2674937 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305277 property_value: exactMatch https://omim.org/entry/609625 property_value: exactMatch Orphanet:96148 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0012316 name: Majeed syndrome def: "Majeed syndrome is a rare genetic multisystemic disorder characterized by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and variable transient inflammatory dermatosis." [Orphanet:77297] subset: gard_rare {source="GARD:0010088"} subset: ordo_disease {source="Orphanet:77297"} synonym: "CDA and CRMO" RELATED [GARD:0010088] synonym: "chronic recurrent multifocal osteomyelitis, congenital" RELATED [GARD:0010088] synonym: "chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic Anemia, and neutrophilic dermatosis" RELATED [OMIM:609628] synonym: "chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome" EXACT [Orphanet:77297] synonym: "congenital dyserythropoietic anaemia and chronic recurrent multifocal osteomyelitis" RELATED OMO:0003005 [] synonym: "congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis" RELATED [GARD:0010088] synonym: "dyserythropoietic anemia, and neutrophilic dermatosis" RELATED [GARD:0010088] synonym: "MAJEED syndrome" RELATED [OMIM:609628] synonym: "Majeed syndrome" EXACT [OMIM:609628] synonym: "MJDS" RELATED ABBREVIATION [OMIM:609628] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10072223 {source="Orphanet:77297/e", source="Orphanet:77297"} xref: MESH:C537839 {source="Orphanet:77297/e", source="MONDO:equivalentTo", source="Orphanet:77297"} xref: NCIT:C119058 {source="MONDO:equivalentTo"} xref: OMIM:609628 {source="Orphanet:77297/e", source="MONDO:equivalentTo", source="Orphanet:77297"} xref: Orphanet:77297 {source="OMIM:609628", source="MONDO:equivalentTo"} xref: SCTID:703540008 {source="MONDO:equivalentTo"} xref: UMLS:C1864997 {source="NCIT:C119058", source="Orphanet:77297/e", source="OMIM:609628", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:77297"} is_a: MONDO:0015135 ! primary immunodeficiency due to a genetic defect in innate immunity is_a: MONDO:0017397 {source="Orphanet:77297"} ! constitutional dyserythropoietic anemia is_a: MONDO:0017954 {source="Orphanet:77297"} ! pyogenic autoinflammatory syndrome is_a: MONDO:0023603 ! hereditary disorder of connective tissue is_a: MONDO:0800092 {source="PMID:31633310"} ! hereditary inflammatory or rheumatoid-like osteoarthropathy property_value: closeMatch http://identifiers.org/meddra/10072223 property_value: exactMatch http://identifiers.org/mesh/C537839 property_value: exactMatch http://identifiers.org/snomedct/703540008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864997 property_value: exactMatch https://omim.org/entry/609628 property_value: exactMatch NCIT:C119058 property_value: exactMatch Orphanet:77297 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10088/majeed-syndrome xsd:anyURI {source="GARD:0010088"} [Term] id: MONDO:0012320 name: migraine, familial hemiplegic, 3 def: "Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the SCN1A gene." [MONDO:patterns/disease_series_by_gene] synonym: "familial or sporadic hemiplegic migraine caused by mutation in SCN1A" EXACT [MONDO:design_pattern] synonym: "FHM3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609634] synonym: "migraine, familial hemiplegic, 3" EXACT [MONDO:Lexical, OMIM:609634] synonym: "migraine, familial hemiplegic, type 3" EXACT [MONDORULE:1, OMIM:609634] synonym: "SCN1A familial or sporadic hemiplegic migraine" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111183 {source="MONDO:equivalentTo"} xref: MESH:C566500 {source="MONDO:equivalentTo"} xref: OMIM:609634 {source="MONDO:equivalentTo"} xref: UMLS:C1864987 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609634"} is_a: MONDO:0000700 {source="MONDO:Redundant", source="OMIM:609634", source="Orphanet:569/btnt"} ! familial hemiplegic migraine property_value: exactMatch DOID:0111183 property_value: exactMatch http://identifiers.org/mesh/C566500 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864987 property_value: exactMatch https://omim.org/entry/609634 [Term] id: MONDO:0012322 name: holoprosencephaly 5 def: "Holoprosencephaly associated with mutations in the ZIC2 gene." [NCIT:C75460] synonym: "holoprosencephaly 5" EXACT [MONDO:Lexical, OMIM:609637] synonym: "holoprosencephaly caused by mutation in ZIC2" EXACT [MONDO:design_pattern] synonym: "holoprosencephaly type 5" EXACT [DOID:0110878, MONDORULE:1, OMIM:609637] synonym: "HPE5" EXACT ABBREVIATION [DOID:0110878, MONDO:Lexical, OMIM:609637] synonym: "ZIC2 holoprosencephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110878 {source="MONDO:equivalentTo"} xref: MESH:C566464 {source="MONDO:equivalentTo"} xref: NCIT:C75460 {source="MONDO:equivalentTo"} xref: OMIM:609637 {source="DOID:0110878", source="MONDO:equivalentTo"} xref: UMLS:C1864827 {source="OMIM:609637", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C75460"} is_a: MONDO:0016355 ! semilobar holoprosencephaly is_a: MONDO:0017218 ! septopreoptic holoprosencephaly is_a: MONDO:0017219 ! microform holoprosencephaly is_a: MONDO:0019756 ! lobar holoprosencephaly is_a: MONDO:0019757 ! alobar holoprosencephaly is_a: MONDO:0019758 ! midline interhemispheric variant of holoprosencephaly property_value: exactMatch DOID:0110878 property_value: exactMatch http://identifiers.org/mesh/C566464 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864827 property_value: exactMatch https://omim.org/entry/609637 property_value: exactMatch NCIT:C75460 [Term] id: MONDO:0012323 name: lethal acantholytic epidermolysis bullosa def: "Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized oozing erosions, usually in the absence of blisters." [Orphanet:158687] subset: gard_rare {source="GARD:0009910"} subset: ordo_disease {source="Orphanet:158687"} synonym: "EBLA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609638] synonym: "epidermolysis bullosa, lethal acantholytic" RELATED [MONDO:Lexical, OMIM:609638] synonym: "LAEB" EXACT ABBREVIATION [Orphanet:158687] synonym: "lethal acantholytic epidermolysis bullosa" EXACT [OMIM:609638] xref: MESH:C535493 {source="Orphanet:158687", source="MONDO:equivalentTo", source="Orphanet:158687/e"} xref: OMIM:609638 {source="Orphanet:158687", source="MONDO:equivalentTo", source="Orphanet:158687/e"} xref: Orphanet:158687 {source="OMIM:609638", source="MONDO:equivalentTo"} xref: UMLS:C1864826 {source="OMIM:609638", source="Orphanet:158687", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:158687/e"} is_a: MONDO:0015550 {source="Orphanet:158687"} ! suprabasal epidermolysis bullosa simplex property_value: exactMatch http://identifiers.org/mesh/C535493 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864826 property_value: exactMatch https://omim.org/entry/609638 property_value: exactMatch Orphanet:158687 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9910/epidermolysis-bullosa-lethal-acantholytic xsd:anyURI {source="GARD:0009910"} [Term] id: MONDO:0012324 name: Frias syndrome def: "A rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression." [Orphanet:264200] subset: ordo_malformation_syndrome {source="Orphanet:264200"} synonym: "14q22-q23 microdeletion syndrome" EXACT [Orphanet:264200] synonym: "14q22q23 microdeletion syndrome" EXACT [Orphanet:264200] synonym: "chromosome 14Q22 deletion syndrome" RELATED [OMIM:609640] synonym: "Del(14)(q22q23)" EXACT [Orphanet:264200] synonym: "Frias syndrome" EXACT [GARD:0002384, OMIM:609640] synonym: "Growth deficiency, Facial anomalies, and brachydactyly" RELATED [OMIM:609640] synonym: "monosomy 14q22-q23" EXACT [Orphanet:264200] synonym: "monosomy 14q22q23" EXACT [Orphanet:264200] xref: MESH:C535639 {source="MONDO:equivalentTo"} xref: OMIM:609640 {source="Orphanet:264200", source="MONDO:equivalentTo", source="Orphanet:264200/e"} xref: Orphanet:2055 {source="MONDO:equivalentObsolete", source="OMIM:609640"} xref: Orphanet:264200 {source="MONDO:equivalentTo", source="OMIM:609640"} xref: UMLS:C1864825 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609640"} is_a: MONDO:0015161 {source="Orphanet:264200"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0016912 {source="Orphanet:264200"} ! partial deletion of the long arm of chromosome 14 property_value: exactMatch http://identifiers.org/mesh/C535639 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864825 property_value: exactMatch https://omim.org/entry/609640 property_value: exactMatch Orphanet:264200 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0012328 name: trichilemmal cyst synonym: "Pilar cyst" RELATED [OMIM:609649] synonym: "trichilemmal cyst 1" RELATED [MONDO:Lexical, OMIM:609649] synonym: "Tricholemmal cyst" RELATED [OMIM:609649] synonym: "TRICY1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609649] xref: OMIM:609649 {source="MONDO:equivalentTo"} xref: SCTID:254677004 {source="MONDO:equivalentTo"} xref: UMLS:C1864801 {source="OMIM:609649", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C2266788 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://identifiers.org/snomedct/254677004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864801 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2266788 property_value: exactMatch https://omim.org/entry/609649 [Term] id: MONDO:0012330 name: talo-patello-scaphoid osteolysis def: "Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E), in the absence of renal disease. Autosomal recessive inheritance has been suggested." [Orphanet:50809] subset: ordo_malformation_syndrome {source="Orphanet:50809"} synonym: "singh-Williams-McAlister syndrome" EXACT [Orphanet:50809] synonym: "talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals" RELATED [OMIM:609655] xref: MESH:C536894 {source="MONDO:equivalentTo"} xref: OMIM:609655 {source="Orphanet:50809", source="MONDO:equivalentTo", source="Orphanet:50809/e"} xref: Orphanet:50809 {source="MONDO:equivalentTo", source="OMIM:609655"} xref: UMLS:C1864784 {source="Orphanet:50809", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609655"} is_a: MONDO:0019707 {source="Orphanet:50809"} ! primary osteolysis property_value: exactMatch http://identifiers.org/mesh/C536894 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864784 property_value: exactMatch https://omim.org/entry/609655 property_value: exactMatch Orphanet:50809 [Term] id: MONDO:0012332 name: obsolete short stature-delayed bone age due to thyroid hormone metabolism deficiency property_value: IAO:0000231 IAO:0000229 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4971 xsd:anyURI is_obsolete: true replaced_by: MONDO:0800046 [Term] id: MONDO:0012334 name: hereditary spastic paraplegia 29 def: "Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia." [Orphanet:101009] subset: ordo_disease {source="Orphanet:101009"} synonym: "autosomal dominant spastic paraplegia 29" EXACT [DOID:0110780] synonym: "autosomal dominant spastic paraplegia type 29" RELATED [Orphanet:101009] synonym: "hereditary spastic paraplegia type 29" EXACT [DOID:0110780, MONDORULE:2] synonym: "spastic paraplegia 29" RELATED [GARD:0009729] synonym: "spastic paraplegia 29, autosomal dominant" RELATED [MONDO:Lexical, OMIM:609727] synonym: "SPG29" EXACT ABBREVIATION [DOID:0110780, MONDO:Lexical, OMIM:609727, Orphanet:101009] xref: DOID:0110780 {source="MONDO:equivalentTo"} xref: MESH:C536863 {source="MONDO:equivalentTo", source="Orphanet:101009", source="Orphanet:101009/e"} xref: OMIM:609727 {source="MONDO:equivalentTo", source="Orphanet:101009", source="DOID:0110780", source="Orphanet:101009/e"} xref: Orphanet:101009 {source="OMIM:609727", source="MONDO:equivalentTo", source="DOID:0110780"} xref: SCTID:733029008 {source="MONDO:equivalentTo"} xref: UMLS:C1857855 {source="OMIM:609727", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:101009", source="Orphanet:101009/e"} is_a: MONDO:0015087 {source="Orphanet:101009"} ! autosomal dominant complex spastic paraplegia property_value: exactMatch DOID:0110780 property_value: exactMatch http://identifiers.org/mesh/C536863 property_value: exactMatch http://identifiers.org/snomedct/733029008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857855 property_value: exactMatch https://omim.org/entry/609727 property_value: exactMatch Orphanet:101009 [Term] id: MONDO:0012335 name: obesity due to pro-opiomelanocortin deficiency def: "Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin." [Orphanet:71526] subset: ordo_malformation_syndrome {source="Orphanet:71526"} synonym: "OBAIRH" RELATED ABBREVIATION [OMIM:609734] synonym: "obesity, adrenal insufficiency, and red hair due to POMC deficiency" EXACT [OMIM:609734, OMIM:genemap2] synonym: "obesity, early-onset, adrenal insufficiency, and Red hair" RELATED [OMIM:609734] synonym: "obesity, early-onset, with adrenal insufficiency and RED hair" RELATED [OMIM:609734] synonym: "obesity, early-onset, with adrenal insufficiency and Red hair" RELATED [OMIM:609734] synonym: "POMC deficiency" EXACT [Orphanet:71526] synonym: "PROOPIOMELANOCORTIN deficiency" RELATED [OMIM:609734] xref: ICD9:255.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C565726 {source="MONDO:equivalentTo"} xref: OMIM:609734 {source="Orphanet:71526/e", source="MONDO:equivalentTo", source="Orphanet:71526"} xref: Orphanet:71526 {source="OMIM:609734", source="MONDO:equivalentTo"} xref: SCTID:702949005 {source="MONDO:equivalentTo"} xref: UMLS:C1857854 {source="OMIM:609734", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:71526"} is_a: MONDO:0020075 ! hereditary non-syndromic obesity property_value: exactMatch http://identifiers.org/mesh/C565726 property_value: exactMatch http://identifiers.org/snomedct/702949005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857854 property_value: exactMatch https://omim.org/entry/609734 property_value: exactMatch Orphanet:71526 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012342 name: 7q11.23 microduplication syndrome def: "7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short piltrum, thin upper lip and facial asymmetry). hypotonia, developmental coordination disordes, behavioral problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported." [Orphanet:96121] subset: ordo_malformation_syndrome {source="Orphanet:96121"} synonym: "7q11.23 duplication syndrome" RELATED [GARD:0012076] synonym: "chromosome 7Q11.23 Duplication syndrome" RELATED [OMIM:609757] synonym: "chromosome 7Q11.23 triplication syndrome" RELATED [OMIM:609757] synonym: "dup(7)(q11.23)" EXACT [Orphanet:96121] synonym: "Somerville-Van Der Aa syndrome" RELATED [OMIM:609757] synonym: "trisomy 7q11.23" EXACT [Orphanet:96121] synonym: "Wbs Duplication syndrome" RELATED [OMIM:609757] synonym: "Wbs triplication syndrome" RELATED [OMIM:609757] synonym: "Williams-Beuren region DUPLICATION syndrome" RELATED [OMIM:609757] xref: DECIPHER:43 {source="MONDO:equivalentTo"} xref: DOID:0080926 {source="MONDO:equivalentTo"} xref: MESH:C565723 {source="MONDO:equivalentTo"} xref: OMIM:609757 {source="Orphanet:96121/e", source="MONDO:equivalentTo", source="Orphanet:96121"} xref: Orphanet:96121 {source="OMIM:609757", source="MONDO:equivalentTo"} xref: SCTID:726707004 {source="MONDO:equivalentTo"} xref: UMLS:C1857844 {source="OMIM:609757", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:96121"} xref: UMLS:C4512054 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="MESH:C565723/inferred", source="Orphanet:96121/inferred"} ! genetic disorder is_a: MONDO:0016958 {source="Orphanet:96121"} ! partial duplication of the long arm of chromosome 7 property_value: exactMatch DOID:0080926 property_value: exactMatch http://identifiers.org/mesh/C565723 property_value: exactMatch http://identifiers.org/snomedct/726707004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857844 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4512054 property_value: exactMatch https://omim.org/entry/609757 property_value: exactMatch Orphanet:96121 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI [Term] id: MONDO:0012345 name: acral peeling skin syndrome def: "Acral peeling skin syndrome (PSS) is a form of PSS characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet." [Orphanet:263534] subset: gard_rare {source="GARD:0012863"} subset: ordo_disease {source="Orphanet:263534"} synonym: "acral deciduous skin" EXACT [Orphanet:263534] synonym: "acral peeling skin syndrome" EXACT [OMIM:609796] synonym: "acral PSS" EXACT [Orphanet:263534] synonym: "localised deciduous skin" EXACT OMO:0003005 [] synonym: "localised PSS" EXACT OMO:0003005 [] synonym: "localized deciduous skin" EXACT [Orphanet:263534] synonym: "localized PSS" EXACT [Orphanet:263534] synonym: "peeling skin syndrome 2" RELATED [MONDO:Lexical, OMIM:609796] synonym: "peeling skin syndrome type 2" EXACT [MONDORULE:1, OMIM:609796] synonym: "peeling skin syndrome, acral type" RELATED [OMIM:609796] synonym: "PSS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609796] xref: MESH:C536316 {source="MONDO:equivalentTo"} xref: OMIM:609796 {source="MONDO:equivalentTo", source="Orphanet:263534", source="Orphanet:263534/e"} xref: Orphanet:263534 {source="MONDO:equivalentTo", source="OMIM:609796"} xref: SCTID:709416009 {source="MONDO:equivalentTo"} xref: UMLS:C1853354 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:263534", source="OMIM:609796"} is_a: MONDO:0019347 {source="DC-OMIM:609796", source="OMIM:609796", source="Orphanet:263534"} ! peeling skin syndrome property_value: exactMatch http://identifiers.org/mesh/C536316 property_value: exactMatch http://identifiers.org/snomedct/709416009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853354 property_value: exactMatch https://omim.org/entry/609796 property_value: exactMatch Orphanet:263534 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12863/acral-peeling-skin-syndrome xsd:anyURI {source="GARD:0012863"} [Term] id: MONDO:0012350 name: complement factor H deficiency synonym: "Cfh deficiency" RELATED [OMIM:609814] synonym: "CFHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609814] synonym: "complement factor H deficiency" EXACT [MONDO:Lexical, OMIM:609814] synonym: "factor H deficiency" RELATED [OMIM:609814] xref: ICD9:279.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562875 {source="MONDO:equivalentTo"} xref: OMIM:609814 {source="MONDO:equivalentTo"} xref: Orphanet:93571 {source="OMIM:609814", source="MONDO:directSiblingOf"} xref: SCTID:234622003 {source="MONDO:equivalentTo"} is_a: MONDO:0018013 {source="Orphanet:329918/btnt"} ! non-immunoglobulin-mediated membranoproliferative glomerulonephritis property_value: exactMatch http://identifiers.org/mesh/C562875 property_value: exactMatch http://identifiers.org/snomedct/234622003 property_value: exactMatch https://omim.org/entry/609814 property_value: excluded_subClassOf MONDO:0016244 {source="Orphanet:2134/btnt"} [Term] id: MONDO:0012351 name: zygodactyly type 1 subset: ordo_clinical_subtype {source="Orphanet:295187"} synonym: "SD1, Weidenreich type" EXACT [Orphanet:295187] synonym: "SD1a" EXACT [Orphanet:295187] synonym: "syndactyly type 1, Weidenreich type" EXACT [Orphanet:295187] synonym: "syndactyly type 1a" EXACT [Orphanet:295187] synonym: "Zd1" RELATED [OMIM:609815] synonym: "ZYGODACTYLY 1" RELATED [OMIM:609815] synonym: "zygodactyly type 1" EXACT [MONDORULE:1, OMIM:609815] synonym: "Zygodactyly, Weidenreich type" EXACT [Orphanet:295187] xref: DOID:0111820 {source="MONDO:equivalentTo"} xref: MESH:C565223 {source="MONDO:equivalentTo"} xref: OMIM:609815 {source="Orphanet:295187", source="MONDO:equivalentTo", source="Orphanet:295187/e"} xref: Orphanet:295187 {source="OMIM:609815", source="MONDO:equivalentTo"} xref: UMLS:C1853294 {source="OMIM:609815", source="Orphanet:295187", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0008512 {source="Orphanet:295187"} ! syndactyly type 1 property_value: exactMatch DOID:0111820 property_value: exactMatch http://identifiers.org/mesh/C565223 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853294 property_value: exactMatch https://omim.org/entry/609815 property_value: exactMatch Orphanet:295187 [Term] id: MONDO:0012354 name: platelet-type bleeding disorder 8 def: "P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate." [Orphanet:36355] subset: ordo_disease {source="Orphanet:36355"} synonym: "ADP platelet receptor P2Y12 defect" EXACT [DOID:0060692, Orphanet:36355] synonym: "BDPLT8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609821] synonym: "bleeding disorder due to P2Rx1 defect, somatic" RELATED [OMIM:609821] synonym: "bleeding disorder due to P2Ry12 defect" RELATED [OMIM:609821] synonym: "bleeding disorder, platelet-type 8" RELATED [GARD:0012478] synonym: "bleeding disorder, platelet-type, 8" RELATED [MONDO:Lexical, OMIM:609821] synonym: "P2Y12 defect" EXACT [DOID:0060692] synonym: "platelet-type bleeding disorder 8" EXACT [] xref: DOID:0060692 {source="MONDO:equivalentTo"} xref: MESH:C565220 {source="MONDO:equivalentTo"} xref: OMIM:609821 {source="DOID:0060692", source="Orphanet:36355/e", source="MONDO:equivalentTo", source="Orphanet:36355"} xref: Orphanet:36355 {source="DOID:0060692", source="MONDO:equivalentTo", source="OMIM:609821"} xref: SCTID:725291001 {source="MONDO:equivalentTo"} xref: UMLS:C1853278 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:36355", source="OMIM:609821"} is_a: MONDO:0000009 {source="DC-OMIM:609821", source="MONDO:0017142-obsoleted", source="MONDO:Redundant", source="OMIM:609821"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0021181 {source="MONDO:0017142-obsoleted"} ! inherited blood coagulation disorder property_value: exactMatch DOID:0060692 property_value: exactMatch http://identifiers.org/mesh/C565220 property_value: exactMatch http://identifiers.org/snomedct/725291001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853278 property_value: exactMatch https://omim.org/entry/609821 property_value: exactMatch Orphanet:36355 [Term] id: MONDO:0012359 name: combined immunodeficiency due to partial RAG1 deficiency def: "A form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia." [Orphanet:231154] subset: ordo_disease {source="Orphanet:231154"} synonym: "alpha/beta T-cell lymphopenia with gamma/DELTA T-cell expansion, severe CYTOMEGALOVIRUS infection, and autoimmunity" RELATED [OMIM:609889] synonym: "CID due to partial RAG1 deficiency" EXACT [Orphanet:231154] synonym: "CID with expansion of gamma delta T cells" EXACT [Orphanet:231154] synonym: "combined immunodeficiency with expansion of gamma delta T cells" EXACT [Orphanet:231154] xref: MESH:C563691 {source="MONDO:equivalentTo"} xref: OMIM:609889 {source="Orphanet:231154", source="MONDO:equivalentTo", source="Orphanet:231154/e"} xref: Orphanet:231154 {source="OMIM:609889", source="MONDO:equivalentTo"} xref: SCTID:725290000 {source="MONDO:equivalentTo"} xref: UMLS:C1835931 {source="OMIM:609889", source="Orphanet:231154", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4510944 {source="MONDO:equivalentTo"} is_a: MONDO:0017855 {source="PMID:31953710"} ! T-B- severe combined immunodeficiency property_value: exactMatch http://identifiers.org/mesh/C563691 property_value: exactMatch http://identifiers.org/snomedct/725290000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835931 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510944 property_value: exactMatch https://omim.org/entry/609889 property_value: exactMatch Orphanet:231154 property_value: excluded_subClassOf MONDO:0018814 {source="Orphanet:231154"} [Term] id: MONDO:0012363 name: retinitis pigmentosa 32 def: "A retinitis pigmentosa that has material basis in variation in the chromosome region 1p21.3-p13.3." [DOID:0110355, PMID:16189710] subset: gard_rare {source="GARD:0010395"} synonym: "retinitis pigmentosa 32" EXACT [MONDO:Lexical, OMIM:609913] synonym: "retinitis pigmentosa type 32" EXACT [DOID:0110355, MONDORULE:2] synonym: "RP32" EXACT ABBREVIATION [DOID:0110355, GARD:0010395, MONDO:Lexical, OMIM:609913] xref: DOID:0110355 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110355"} xref: MESH:C563689 {source="MONDO:equivalentTo"} xref: OMIM:609913 {source="MONDO:equivalentTo", source="DOID:0110355"} xref: UMLS:C1835927 {source="OMIM:609913", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019200 {source="DC-OMIM:609913", source="DOID:0110355", source="MESH:C563689", source="OMIM:609913"} ! retinitis pigmentosa property_value: exactMatch DOID:0110355 property_value: exactMatch http://identifiers.org/mesh/C563689 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835927 property_value: exactMatch https://omim.org/entry/609913 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10395/retinitis-pigmentosa-32 xsd:anyURI {source="GARD:0010395"} [Term] id: MONDO:0012381 name: hyperinsulinism due to INSR deficiency def: "Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset." [Orphanet:263458] subset: ordo_disease {source="Orphanet:263458"} synonym: "HHF5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609968] synonym: "hyperinsulinemic hypoglycemia due to INSR deficiency" EXACT [Orphanet:263458] synonym: "hyperinsulinemic hypoglycemia due to insulin receptor deficiency" EXACT [Orphanet:263458] synonym: "hyperinsulinemic hypoglycemia, familial, 5" RELATED [MONDO:Lexical, OMIM:609968] synonym: "hyperinsulinemic hypoglycemia, familial, type 5" EXACT [MONDORULE:1, OMIM:609968] xref: DOID:0070220 {source="MONDO:equivalentTo"} xref: MESH:C566494 {source="MONDO:equivalentTo"} xref: OMIM:609968 {source="Orphanet:263458/e", source="MONDO:equivalentTo", source="Orphanet:263458"} xref: Orphanet:263458 {source="OMIM:609968", source="MONDO:equivalentTo"} xref: SCTID:721235003 {source="MONDO:equivalentTo"} xref: UMLS:C1864952 {source="OMIM:609968", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0017182 {source="Orphanet:263458"} ! familial hyperinsulinism property_value: exactMatch DOID:0070220 property_value: exactMatch http://identifiers.org/mesh/C566494 property_value: exactMatch http://identifiers.org/snomedct/721235003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864952 property_value: exactMatch https://omim.org/entry/609968 property_value: exactMatch Orphanet:263458 [Term] id: MONDO:0012382 name: hyperinsulinemic hypoglycemia, familial, 4 def: "Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the HADH gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare subset: ordo_disease {source="Orphanet:71212"} synonym: "3-alpha hydroxyacyl-CoA dehydrogenase deficiency" RELATED [GARD:0009870] synonym: "3-Alpha-hydroxyacyl-Coenzyme A dehydrogenase deficiency" RELATED [MESH:C535310] synonym: "3-hydroxyacyl-CoA dehydrogenase deficiency" RELATED [OMIM:231530] synonym: "3-hydroxyacyl-Coenzyme A dehydrogenase deficiency" RELATED [MESH:C535310] synonym: "3-hydroxylacyl-CoA dehydrogenase deficiency" RELATED [GARD:0009870] synonym: "had deficiency" RELATED [MESH:C535310] synonym: "HADH deficiency" RELATED [GARD:0009870, MESH:C535310, OMIM:231530] synonym: "HADH hyperinsulinemic hypoglycemia (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "HADHSC deficiency" RELATED [MESH:C535310] synonym: "HHF4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609975] synonym: "hyperinsulinemic hypoglycemia (disease) caused by mutation in HADH" EXACT [] synonym: "hyperinsulinemic hypoglycemia due to HADH deficiency" EXACT [MONDO:cjm] synonym: "hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency" EXACT [Orphanet:71212] synonym: "hyperinsulinemic hypoglycemia, familial, 4" EXACT [MONDO:Lexical, OMIM:609975] synonym: "hyperinsulinemic hypoglycemia, familial, type 4" EXACT [MONDORULE:1, OMIM:609975] synonym: "hyperinsulinism due to glutamodehydrogenase deficiency" EXACT [Orphanet:71212] synonym: "hyperinsulinism due to SCHAD deficiency" EXACT [Orphanet:71212] synonym: "hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency" EXACT [] synonym: "hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency" EXACT [MONDO:0009278] synonym: "L-3-Alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency" RELATED [MESH:C535310] synonym: "M-SCHAD deficiency" RELATED [MESH:C535310] synonym: "M/SCHAD" RELATED [GARD:0009870] synonym: "medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency" RELATED [GARD:0009870] synonym: "SCHAD deficiency" RELATED [MESH:C535310, OMIM:231530, Orphanet:71212] synonym: "SCHAD deficiency, formerly" RELATED [OMIM:231530] xref: DOID:0070215 {source="MONDO:equivalentTo"} xref: MESH:C535310 {source="MONDO:relatedTo"} xref: MESH:C566493 {source="MONDO:equivalentTo"} xref: OMIM:609975 {source="Orphanet:71212", source="MONDO:equivalentTo", source="Orphanet:71212/e"} xref: Orphanet:71212 {source="MONDO:equivalentTo", source="GARD:0009870", source="OMIM:231530", source="OMIM:609975"} xref: SCTID:721236002 {source="MONDO:equivalentTo"} xref: UMLS:C1864948 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609975"} xref: UMLS:C4303473 {source="MONDO:equivalentTo"} is_a: MONDO:0015624 {source="Orphanet:71212"} ! diazoxide-sensitive diffuse hyperinsulinism property_value: exactMatch DOID:0070215 property_value: exactMatch http://identifiers.org/mesh/C566493 property_value: exactMatch http://identifiers.org/snomedct/721236002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864948 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303473 property_value: exactMatch https://omim.org/entry/609975 property_value: exactMatch Orphanet:71212 property_value: excluded_subClassOf MONDO:0017715 {source="Orphanet:71212"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3977 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9870/3-alpha-hydroxyacyl-coa-dehydrogenase-deficiency xsd:anyURI {source="GARD:0009870"} [Term] id: MONDO:0012383 name: primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency def: "The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterized by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localized to within a 12-Mb region on chromosome 8p11.23-q11.21." [Orphanet:75391] subset: ordo_disease {source="Orphanet:75391"} synonym: "IMD54" RELATED ABBREVIATION [OMIM:609981] synonym: "immunodeficiency 54" RELATED [OMIM:609981] synonym: "mini-chromosome maintenance 4" EXACT [NCIT:C123729] synonym: "natural KILLER cell and glucocorticoid deficiency with DNA repair defect" RELATED [MONDO:Lexical, OMIM:609981] synonym: "natural Killer cell deficiency, familial isolated" RELATED [OMIM:609981] synonym: "NKGCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609981] synonym: "primary immunodeficiency due to MCM4 deficiency" EXACT [Orphanet:75391] xref: DOID:0111967 {source="MONDO:equivalentTo"} xref: MESH:C566492 {source="MONDO:equivalentTo"} xref: NCIT:C123729 {source="MONDO:equivalentTo"} xref: OMIM:609981 {source="MONDO:equivalentTo", source="Orphanet:75391", source="Orphanet:75391/e"} xref: Orphanet:75391 {source="MONDO:equivalentTo", source="OMIM:609981"} xref: SCTID:724275005 {source="MONDO:equivalentTo"} xref: UMLS:C1864947 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609981"} is_a: MONDO:0015823 ! primary immunodeficiency due to a defect in adaptive immunity is_a: MONDO:0021094 {source="NCIT:C123729"} ! immunodeficiency disease property_value: exactMatch DOID:0111967 property_value: exactMatch http://identifiers.org/mesh/C566492 property_value: exactMatch http://identifiers.org/snomedct/724275005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864947 property_value: exactMatch https://omim.org/entry/609981 property_value: exactMatch NCIT:C123729 property_value: exactMatch Orphanet:75391 [Term] id: MONDO:0012387 name: osteosclerosis-ichthyosis-premature ovarian failure syndrome def: "This syndrome is characterized by sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals." [Orphanet:75325] subset: ordo_disease {source="Orphanet:75325"} synonym: "osteosclerosis with ichthyosis and POF" RELATED [GARD:0009904] synonym: "osteosclerosis with ichthyosis and premature ovarian failure" RELATED [OMIM:609993] synonym: "sclerosing dysplasia of bone with ichthyosis and premature ovarian failure" RELATED [OMIM:609993] synonym: "sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome" EXACT [Orphanet:75325] xref: MESH:C536064 {source="Orphanet:75325", source="MONDO:equivalentTo", source="Orphanet:75325/e"} xref: OMIM:609993 {source="Orphanet:75325", source="MONDO:equivalentTo", source="Orphanet:75325/e"} xref: Orphanet:75325 {source="MONDO:equivalentTo", source="OMIM:609993"} xref: SCTID:722114007 {source="MONDO:equivalentTo"} is_a: MONDO:0017270 ! autosomal ichthyosis syndrome is_a: MONDO:0019852 {source="Orphanet:75325"} ! inherited primary ovarian failure property_value: exactMatch http://identifiers.org/mesh/C536064 property_value: exactMatch http://identifiers.org/snomedct/722114007 property_value: exactMatch https://omim.org/entry/609993 property_value: exactMatch Orphanet:75325 property_value: excluded_subClassOf MONDO:0019703 {source="Orphanet:75325"} [Term] id: MONDO:0012391 name: neuronal ceroid lipofuscinosis 8 northern epilepsy variant def: "Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." [Orphanet:1947] subset: gard_rare subset: ordo_disease {source="Orphanet:1947"} synonym: "ceroid lipofuscinosis neuronal 8" RELATED [GARD:0004010] synonym: "ceroid lipofuscinosis, neuronal, 8, NORTHERN epilepsy variant" RELATED [OMIM:610003] synonym: "CLN8" RELATED ABBREVIATION [GARD:0004010] synonym: "CLN8 disease, EPMR (subtype)" RELATED [GARD:0004010] synonym: "CLN8 disease, late infantile (subtype)" RELATED [GARD:0004010] synonym: "CLN8 disease, Northern epilepsy variant" EXACT [Orphanet:1947] synonym: "epilepsy mental deterioration Finnish type" RELATED [GARD:0002163] synonym: "epilepsy, progressive, with intellectual disability" RELATED [OMIM:610003] synonym: "epilepsy, progressive, with mental retardation" RELATED DEPRECATED [OMIM:610003] synonym: "EPMR" EXACT ABBREVIATION [DOID:0110724] synonym: "NCL, Northern epilepsy variant" EXACT [Orphanet:1947] synonym: "neuronal ceroid lipofuscinosis 8" RELATED [GARD:0004010] synonym: "neuronal ceroid lipofuscinosis, Northern epilepsy variant" EXACT [Orphanet:1947] synonym: "Northern epilepsy" EXACT [OMIM:610003, Orphanet:1947] synonym: "northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant" EXACT [DOID:0110724] synonym: "progressive epilepsy - intellectual disability, Finnish type" RELATED [GARD:0004010] synonym: "progressive epilepsy with intellectual disability, northern epilepsy" EXACT [DOID:0110724] synonym: "progressive epilepsy with mental retardation, northern epilepsy" EXACT DEPRECATED [DOID:0110724] synonym: "progressive epilepsy-intellectual disability syndrome, Finnish type" EXACT [DOID:0110724, GARD:0004010] xref: DOID:0110724 {source="MONDO:equivalentTo"} xref: OMIM:610003 {source="Orphanet:1947/e", source="DOID:0110724", source="MONDO:equivalentTo", source="Orphanet:1947"} xref: Orphanet:1947 {source="OMIM:610003", source="DOID:0110724", source="MONDO:equivalentTo", source="GARD:0004010"} is_a: MONDO:0010830 ! neuronal ceroid lipofuscinosis 8 is_a: MONDO:0015653 {source="Orphanet:1947"} ! monogenic epilepsy is_a: MONDO:0015905 ! syndromic dyslipidemia property_value: exactMatch DOID:0110724 property_value: exactMatch https://omim.org/entry/610003 property_value: exactMatch Orphanet:1947 property_value: excluded_subClassOf MONDO:0020074 {source="Orphanet:1947"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2163/epilepsy-mental-deterioration-finnish-type xsd:anyURI {source="GARD:0002163"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4010/northern-epilepsy xsd:anyURI {source="GARD:0004010"} [Term] id: MONDO:0012392 name: 2-methylbutyryl-CoA dehydrogenase deficiency def: "A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported." [Orphanet:79157] subset: gard_rare {source="GARD:0010322"} subset: ordo_disease {source="Orphanet:79157"} synonym: "2-methylbutyric aciduria" EXACT [Orphanet:79157] synonym: "2-methylbutyryl Glycinuria" RELATED [OMIM:610006] synonym: "2-methylbutyryl-CoA dehydrogenase deficiency" EXACT [OMIM:610006] synonym: "2-methylbutyrylglycinuria" EXACT [OMIM:610006, OMIM:genemap2] synonym: "butyryl-CoA dehydrogenase deficiency" EXACT [NCIT:C98863] synonym: "developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency" EXACT [Orphanet:79157] synonym: "SBCAD deficiency" EXACT [Orphanet:79157] synonym: "short branched-chain acyl-CoA dehydrogenase deficiency" RELATED [GARD:0010322] synonym: "short/branched-chain acyl-Coa dehydrogenase deficiency" RELATED [OMIM:610006] synonym: "short/branched-chain acyl-coA dehydrogenase deficiency" EXACT [Orphanet:79157] xref: MESH:C566487 {source="MONDO:equivalentTo"} xref: NCIT:C98863 {source="MONDO:equivalentTo"} xref: OMIM:610006 {source="Orphanet:79157/e", source="MONDO:equivalentTo", source="Orphanet:79157"} xref: Orphanet:79157 {source="MONDO:equivalentTo", source="OMIM:610006"} xref: UMLS:C1864912 {source="Orphanet:79157/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610006", source="Orphanet:79157", source="NCIT:C98863"} is_a: MONDO:0019215 {source="Orphanet:79157"} ! classic organic aciduria property_value: exactMatch http://identifiers.org/mesh/C566487 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864912 property_value: exactMatch https://omim.org/entry/610006 property_value: exactMatch NCIT:C98863 property_value: exactMatch Orphanet:79157 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10322/2-methylbutyryl-coa-dehydrogenase-deficiency xsd:anyURI {source="GARD:0010322"} [Term] id: MONDO:0012393 name: congenital brain dysgenesis due to glutamine synthetase deficiency subset: ordo_disease {source="Orphanet:71278"} synonym: "congenital brain dysgenesis due to glutamine synthetase deficiency" EXACT [] synonym: "congenital glutamine deficiency" RELATED [GARD:0009848] synonym: "glutamine deficiency, congenital" RELATED [OMIM:610015] synonym: "glutamine synthase deficiency, congenital systemic" RELATED [OMIM:610015] synonym: "glutamine synthetase deficiency, congenital systemic" RELATED [GARD:0009848] synonym: "inherited glutamine synthetase deficiency" EXACT [Orphanet:71278] synonym: "inherited GS deficiency" EXACT [Orphanet:71278] xref: MESH:C536832 {source="MONDO:equivalentTo"} xref: OMIM:610015 {source="Orphanet:71278", source="MONDO:equivalentTo", source="Orphanet:71278/e"} xref: Orphanet:71278 {source="MONDO:equivalentTo", source="OMIM:610015"} xref: UMLS:C1864910 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610015"} is_a: MONDO:0017352 {source="Orphanet:71278"} ! disorder of glutamine metabolism relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch http://identifiers.org/mesh/C536832 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864910 property_value: exactMatch https://omim.org/entry/610015 property_value: exactMatch Orphanet:71278 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0012396 name: exercise-induced hyperinsulinism def: "Exercise-induced hyperinsulinism (EIHI) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells." [Orphanet:165991] subset: ordo_disease {source="Orphanet:165991"} synonym: "EIHI" EXACT ABBREVIATION [Orphanet:165991] synonym: "exercise induced hyperinsulinemic hypoglycemia" RELATED [GARD:0009932] synonym: "exercise-induced hyperinsulinemic hypoglycemia" EXACT [Orphanet:165991] synonym: "HHF7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610021] synonym: "hyperinsulinemic hypoglycemia exercise-induced" RELATED [GARD:0009932] synonym: "hyperinsulinemic hypoglycemia familial 7" RELATED [GARD:0009932] synonym: "hyperinsulinemic hypoglycemia, exercise-induced" RELATED [OMIM:610021] synonym: "hyperinsulinemic hypoglycemia, familial, 7" RELATED [MONDO:Lexical, OMIM:610021] synonym: "hyperinsulinemic hypoglycemia, familial, type 7" EXACT [MONDORULE:1, OMIM:610021] synonym: "hyperinsulinism due to monocarboxylate transporter 1 deficiency" EXACT [Orphanet:165991] synonym: "hyperinsulinism due to SLC16A1 deficiency" EXACT [Orphanet:165991] synonym: "MCT1 hyperinsulinism" EXACT [NCIT:C131839] synonym: "monocarboxylate transporter 1 hyperinsulinism" EXACT [NCIT:C131839] xref: DOID:0070214 {source="MONDO:equivalentTo"} xref: MESH:C538376 {source="MONDO:equivalentTo"} xref: NCIT:C131839 {source="MONDO:equivalentTo"} xref: OMIM:610021 {source="Orphanet:165991", source="MONDO:equivalentTo", source="Orphanet:165991/e"} xref: Orphanet:165991 {source="OMIM:610021", source="MONDO:equivalentTo"} xref: SCTID:715830008 {source="MONDO:equivalentTo"} xref: UMLS:C1864902 {source="OMIM:610021", source="Orphanet:165991", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C1864904 {source="MONDO:equivalentTo"} is_a: MONDO:0015624 {source="Orphanet:165991"} ! diazoxide-sensitive diffuse hyperinsulinism is_a: MONDO:0017706 {source="Orphanet:165991"} ! disorder of carbohydrate transmembrane transport and absorption property_value: exactMatch DOID:0070214 property_value: exactMatch http://identifiers.org/mesh/C538376 property_value: exactMatch http://identifiers.org/snomedct/715830008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864902 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864904 property_value: exactMatch https://omim.org/entry/610021 property_value: exactMatch NCIT:C131839 property_value: exactMatch Orphanet:165991 [Term] id: MONDO:0012399 name: complex cortical dysplasia with other brain malformations 7 def: "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2B gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_malformation_syndrome {source="Orphanet:300573"} synonym: "CDCBM7" EXACT ABBREVIATION [DOID:0090132] synonym: "complex cortical dysplasia with other brain malformations caused by mutation in TUBB2B" EXACT [MONDO:design_pattern] synonym: "complex cortical dysplasia with other brain malformations type 7" EXACT [DOID:0090132, MONDORULE:1] synonym: "cortical dysplasia, COMPLEX, with OTHER brain malformations 7" RELATED [OMIM:610031] synonym: "cortical dysplasia, Complex, with Other brain malformations 7" RELATED [OMIM:610031] synonym: "PMGYSA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610031] synonym: "polymicrogyria due to TUBB2B mutation" EXACT [DOID:0090132] synonym: "polymicrogyria, symmetric or asymmetric" RELATED [MONDO:Lexical, OMIM:610031] synonym: "TUBB2B complex cortical dysplasia with other brain malformations" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090132 {source="MONDO:equivalentTo"} xref: OMIM:610031 {source="Orphanet:300573", source="DOID:0090132", source="MONDO:equivalentTo", source="Orphanet:300573/e"} xref: Orphanet:300573 {source="OMIM:610031", source="DOID:0090132", source="MONDO:equivalentTo"} xref: UMLS:CN203403 {source="MONDO:equivalentTo"} is_a: MONDO:0000904 {source="DOID:0090132", source="MONDO:Redundant", source="OMIM:610031"} ! complex cortical dysplasia with other brain malformations is_a: MONDO:0015159 {source="Orphanet:300573"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0016162 {source="Orphanet:208444/btnt", source="Orphanet:300573"} ! bilateral frontal polymicrogyria property_value: exactMatch DOID:0090132 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203403 property_value: exactMatch https://omim.org/entry/610031 property_value: exactMatch Orphanet:300573 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:300573", source="Orphanet:300573/inferred"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0012400 name: cortical dysplasia-focal epilepsy syndrome def: "An autosomal recessive condition caused by mutation(s) in the CNTNAP2 gene, encoding contactin-associated protein-like 2. It is characterized by normal development until the onset of intractable focal seizures at age 1-9. After the onset of seizures, language regression, intellectual disability, hyperactivity, and impulsive behaviors begin to occur. The majority of children eventually fulfill the criteria for autism spectrum disorder." [NCIT:C133743] subset: ordo_disease {source="Orphanet:163681"} synonym: "CDFE syndrome" EXACT [DOID:0090130, OMIM:610042] synonym: "CDFES" EXACT ABBREVIATION [DOID:0090130, MONDO:Lexical, OMIM:610042] synonym: "cortical dysplasia-focal epilepsy syndrome" EXACT [MONDO:Lexical, OMIM:610042] synonym: "Pitt-Hopkins like syndrome 1" EXACT [OMIM:610042, OMIM:genemap2] synonym: "Pitt-Hopkins-like syndrome 1" RELATED [OMIM:610042] synonym: "PTHSL1" RELATED ABBREVIATION [OMIM:610042] xref: DOID:0090130 {source="MONDO:equivalentTo"} xref: MESH:C567657 {source="MONDO:equivalentTo"} xref: NCIT:C133743 {source="MONDO:equivalentTo"} xref: OMIM:610042 {source="Orphanet:163681", source="DOID:0090130", source="MONDO:equivalentTo", source="Orphanet:163681/e"} xref: Orphanet:163681 {source="OMIM:610042", source="DOID:0090130", source="MONDO:equivalentTo"} xref: UMLS:C1864887 {source="OMIM:610042", source="Orphanet:163681", source="MONDO:equivalentObsolete", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C133743"} is_a: MONDO:0002254 {source="NCIT:C133743"} ! syndromic disease is_a: MONDO:0016377 {source="MONDO:cjm"} ! Pitt-Hopkins-like syndrome property_value: exactMatch DOID:0090130 property_value: exactMatch http://identifiers.org/mesh/C567657 property_value: exactMatch https://omim.org/entry/610042 property_value: exactMatch NCIT:C133743 property_value: exactMatch Orphanet:163681 property_value: excluded_subClassOf MONDO:0015650 {source="Orphanet:163681"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012401 name: congenital stromal corneal dystrophy def: "Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss." [Orphanet:101068] subset: ordo_disease {source="Orphanet:101068"} synonym: "congenital hereditary stromal dystrophy" EXACT [DOID:0060445, Orphanet:101068] synonym: "congenital stromal corneal dystrophy" EXACT [OMIM:610048] synonym: "corneal dystrophy, congenital stromal" RELATED [MONDO:Lexical, OMIM:610048] synonym: "CSCD" EXACT ABBREVIATION [DOID:0060445, MONDO:Lexical, OMIM:610048, Orphanet:101068] synonym: "Witschel dystrophy" EXACT [Orphanet:101068] xref: DOID:0060445 {source="MONDO:equivalentTo"} xref: ICD9:371.56 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C566452 {source="MONDO:equivalentTo", source="DOID:0060445"} xref: OMIM:610048 {source="Orphanet:101068", source="MONDO:equivalentTo", source="DOID:0060445", source="Orphanet:101068/e"} xref: Orphanet:101068 {source="MONDO:equivalentTo", source="DOID:0060445", source="OMIM:610048"} xref: SCTID:702359002 {source="MONDO:equivalentTo"} xref: UMLS:C1864738 {source="Orphanet:101068", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610048"} is_a: MONDO:0020213 {source="DOID:0060445", source="Orphanet:101068"} ! stromal corneal dystrophy relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch DOID:0060445 property_value: exactMatch http://identifiers.org/mesh/C566452 property_value: exactMatch http://identifiers.org/snomedct/702359002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864738 property_value: exactMatch https://omim.org/entry/610048 property_value: exactMatch Orphanet:101068 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0012407 name: pyridoxal phosphate-responsive seizures def: "Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate." [Orphanet:79096] subset: ordo_disease {source="Orphanet:79096"} synonym: "epileptic encephalopathy, neonatal, Pnpo-related" RELATED [OMIM:610090] synonym: "PNPO deficiency" EXACT [Orphanet:79096] synonym: "Pnpo deficiency" RELATED [OMIM:610090] synonym: "PNPO-related neonatal epileptic encephalopathy" EXACT [Orphanet:79096] synonym: "PNPOD" RELATED ABBREVIATION [OMIM:610090] synonym: "pyridoxal 5'-phosphate-dependent epilepsy" RELATED [GARD:0010730] synonym: "pyridoxal phosphate-dependent seizures" EXACT [Orphanet:79096] synonym: "pyridoxamine 5'-oxidase deficiency" EXACT [Orphanet:79096] synonym: "pyridoxamine 5'-phosphate oxidase deficiency" EXACT [Orphanet:79096] synonym: "pyridoxamine 5-prime-phosphate oxidase deficiency" RELATED [OMIM:610090] synonym: "pyridoxine 5' phosphate oxidase deficiency" EXACT [https://orcid.org/0000-0001-5208-3432, https://www.epilepsydiagnosis.org/etiology/metabolic-groupoverview.html] synonym: "pyridoxine-5'-phosphate oxidase deficiency" RELATED [GARD:0010730] synonym: "seizures, pyridoxine-resistant, PLP-sensitive" RELATED [OMIM:610090] xref: DOID:0111329 {source="MONDO:equivalentTo"} xref: MESH:C566449 {source="MONDO:equivalentTo"} xref: OMIM:610090 {source="MONDO:equivalentTo", source="Orphanet:79096", source="Orphanet:79096/e"} xref: Orphanet:79096 {source="MONDO:equivalentTo", source="OMIM:610090"} xref: SCTID:724576005 {source="MONDO:equivalentTo"} xref: UMLS:C1864723 {source="MONDO:equivalentTo", source="Orphanet:79096", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610090"} is_a: MONDO:0015653 ! monogenic epilepsy is_a: MONDO:0017760 {source="Orphanet:79096"} ! disorder of other vitamins and cofactors metabolism and transport is_a: MONDO:0019237 {source="Orphanet:79096"} ! inborn disorder of pyridoxine metabolism is_a: MONDO:0100033 {source="MONDO:Redundant", source="https://orcid.org/0000-0001-8486-0558"} ! metabolic epilepsy property_value: exactMatch DOID:0111329 property_value: exactMatch http://identifiers.org/mesh/C566449 property_value: exactMatch http://identifiers.org/snomedct/724576005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864723 property_value: exactMatch https://omim.org/entry/610090 property_value: exactMatch Orphanet:79096 [Term] id: MONDO:0012410 name: Finnish upper limb-onset distal myopathy def: "Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common." [Orphanet:399086] subset: ordo_disease {source="Orphanet:399086"} synonym: "distal myopathy type 3" EXACT [Orphanet:399086] synonym: "MPD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610099, Orphanet:399086] synonym: "myopathy, distal, 3" RELATED [MONDO:Lexical, OMIM:610099] xref: DOID:0111189 {source="MONDO:equivalentTo"} xref: OMIM:610099 {source="Orphanet:399086/e", source="MONDO:equivalentTo", source="Orphanet:399086"} xref: Orphanet:399086 {source="OMIM:610099", source="MONDO:equivalentTo"} xref: SCTID:763718009 {source="MONDO:equivalentTo"} xref: UMLS:C1864706 {source="OMIM:610099", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:399086"} is_a: MONDO:0016108 {source="Orphanet:399086"} ! autosomal dominant distal myopathy property_value: exactMatch DOID:0111189 property_value: exactMatch http://identifiers.org/snomedct/763718009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864706 property_value: exactMatch https://omim.org/entry/610099 property_value: exactMatch Orphanet:399086 [Term] id: MONDO:0012411 name: giant axonal neuropathy 2 def: "Any giant axonal neuropathy in which the cause of the disease is a mutation in the DCAF8 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:401964"} synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons" RELATED [Orphanet:401964] synonym: "autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons" EXACT [Orphanet:401964] synonym: "CMT2 with giant axons" EXACT [Orphanet:401964] synonym: "DCAF8 giant axonal neuropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "GAN2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610100] synonym: "giant axonal neuropathy 2, autosomal dominant" RELATED [MONDO:Lexical, OMIM:610100] synonym: "giant axonal neuropathy caused by mutation in DCAF8" EXACT [MONDO:design_pattern] synonym: "giant axonal neuropathy type 2" EXACT [DOID:0090069, MONDORULE:1] synonym: "HMSN2 with giant axons" EXACT [Orphanet:401964] xref: DOID:0090069 {source="MONDO:equivalentTo"} xref: OMIM:610100 {source="Orphanet:401964", source="DOID:0090069", source="MONDO:equivalentTo", source="Orphanet:401964/e"} xref: Orphanet:401964 {source="OMIM:610100", source="MONDO:equivalentTo"} xref: UMLS:C1864695 {source="OMIM:610100", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:CN226146 {source="MONDO:equivalentTo"} is_a: MONDO:0000128 {source="DC-OMIM:610100", source="MONDO:Redundant", source="OMIM:610100"} ! giant axonal neuropathy is_a: MONDO:0018993 {source="Orphanet:401964"} ! Charcot-Marie-Tooth disease type 2 property_value: exactMatch DOID:0090069 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864695 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226146 property_value: exactMatch https://omim.org/entry/610100 property_value: exactMatch Orphanet:401964 [Term] id: MONDO:0012413 name: syndromic microphthalmia type 5 def: "Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations." [Orphanet:178364] subset: ordo_malformation_syndrome {source="Orphanet:178364"} synonym: "MCOPS5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610125, Orphanet:178364] synonym: "microphthalmia syndromic 5" RELATED [GARD:0003692] synonym: "microphthalmia, syndromic 5" RELATED [MONDO:Lexical, OMIM:610125] synonym: "microphthalmia, syndromic type 5" EXACT [MONDORULE:1, OMIM:610125] synonym: "OTX2 syndromic microphthalmia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "OTX2-related eye disorders" RELATED [GARD:0003692] synonym: "retinal dystrophy, early-onset, with or without pituitary dysfunction" RELATED [OMIM:610125] synonym: "syndromic microphthalmia caused by mutation in OTX2" EXACT [MONDO:design_pattern] synonym: "syndromic microphthalmia type 5" EXACT [] synonym: "syndromic microphthalmia/anophthalmia due to OTX2 mutation" EXACT [Orphanet:178364] xref: DOID:0111806 {source="MONDO:equivalentTo"} xref: MESH:C566441 {source="MONDO:equivalentTo"} xref: OMIM:610125 {source="Orphanet:178364", source="MONDO:equivalentTo", source="Orphanet:178364/e"} xref: Orphanet:178364 {source="MONDO:equivalentTo", source="OMIM:610125"} xref: SCTID:718761007 {source="MONDO:equivalentTo"} xref: UMLS:C1864690 {source="Orphanet:178364", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610125"} xref: UMLS:C4305151 {source="MONDO:equivalentTo"} is_a: MONDO:0016073 {source="DC-OMIM:610125", source="MONDO:Redundant", source="OMIM:610125", source="Orphanet:178364"} ! syndromic microphthalmia property_value: exactMatch DOID:0111806 property_value: exactMatch http://identifiers.org/mesh/C566441 property_value: exactMatch http://identifiers.org/snomedct/718761007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864690 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305151 property_value: exactMatch https://omim.org/entry/610125 property_value: exactMatch Orphanet:178364 [Term] id: MONDO:0012414 name: neuronal ceroid lipofuscinosis 10 def: "A rare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." [https://rarediseases.info.nih.gov/diseases/1218/neuronal-ceroid-lipofuscinosis-10] subset: gard_rare {source="GARD:0001218"} subset: ordo_etiological_subtype {source="Orphanet:228337"} synonym: "Cathepsin D deficiency" EXACT [DOID:0110725, Orphanet:228337] synonym: "ceroid lipofuscinosis neuronal Cathepsin D-deficient" RELATED [GARD:0001218] synonym: "ceroid lipofuscinosis, neuronal, 10" RELATED [MONDO:Lexical, OMIM:610127] synonym: "ceroid lipofuscinosis, neuronal, Cathepsin D-deficient" RELATED [OMIM:610127] synonym: "ceroid lipofuscinosis, neuronal, type 10" EXACT [MONDORULE:2, OMIM:610127] synonym: "CLN10" EXACT ABBREVIATION [DOID:0110725, MONDO:Lexical, OMIM:610127] synonym: "CLN10 disease" RELATED [Orphanet:228337] synonym: "CLN10 disease, adult (subtype)" RELATED [GARD:0001218] synonym: "CLN10 disease, congenital (subtype)" RELATED [GARD:0001218] synonym: "CLN10 disease, juvenile (subtype)" RELATED [GARD:0001218] synonym: "CLN10 disease, late infantile (subtype)" RELATED [GARD:0001218] synonym: "CLN10-NCL" EXACT ABBREVIATION [GARD:0001218] synonym: "CTSD neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "neuronal ceroid lipofuscinosis cathepsin D-deficient" EXACT [DOID:0110725] synonym: "neuronal ceroid lipofuscinosis caused by mutation in CTSD" EXACT [MONDO:design_pattern] synonym: "neuronal ceroid lipofuscinosis due to Cathepsin D deficiency" RELATED [OMIM:610127] synonym: "neuronal ceroid lipofuscinosis due to cathepsin D deficiency" EXACT [DOID:0110725] synonym: "neuronal ceroid lipofuscinosis type 10" EXACT [DOID:0110725, MONDORULE:2] synonym: "neuronal ceroid lipofuscinosis, congenital" RELATED [OMIM:610127] xref: DOID:0110725 {source="MONDO:equivalentTo"} xref: MESH:C566438 {source="MONDO:equivalentTo"} xref: OMIM:610127 {source="Orphanet:228337", source="DOID:0110725", source="MONDO:equivalentTo", source="Orphanet:228337/e"} xref: Orphanet:228337 {source="DOID:0110725", source="MONDO:equivalentTo", source="OMIM:610127"} xref: SCTID:720831008 {source="MONDO:equivalentTo"} is_a: MONDO:0015674 {source="Orphanet:168491/btnt", source="Orphanet:228337"} ! late infantile neuronal ceroid lipofuscinosis is_a: MONDO:0019260 {source="Orphanet:228337", source="Orphanet:79262/btnt"} ! adult neuronal ceroid lipofuscinosis is_a: MONDO:0019262 {source="Orphanet:228337", source="Orphanet:79264/btnt"} ! juvenile neuronal ceroid lipofuscinosis property_value: exactMatch DOID:0110725 property_value: exactMatch http://identifiers.org/mesh/C566438 property_value: exactMatch http://identifiers.org/snomedct/720831008 property_value: exactMatch https://omim.org/entry/610127 property_value: exactMatch Orphanet:228337 property_value: excluded_subClassOf MONDO:0009744 {source="Orphanet:168486/btnt", source="Orphanet:228337"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1218/neuronal-ceroid-lipofuscinosis-10 xsd:anyURI {source="GARD:0001218"} [Term] id: MONDO:0012417 name: heart-hand syndrome, Slovenian type def: "A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." [Orphanet:168796] subset: gard_rare {source="GARD:0009846"} subset: ordo_malformation_syndrome {source="Orphanet:168796"} synonym: "atriodigital dysplasia, Slovenian type" EXACT [Orphanet:168796] synonym: "Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome" EXACT [Orphanet:168796] synonym: "heart-hand syndrome, Slovenian type" EXACT [OMIM:610140] xref: MESH:C535852 {source="Orphanet:168796", source="MONDO:equivalentTo", source="Orphanet:168796/e"} xref: OMIM:610140 {source="Orphanet:168796", source="MONDO:equivalentTo", source="Orphanet:168796/e"} xref: Orphanet:168796 {source="MONDO:equivalentTo", source="OMIM:610140"} xref: SCTID:721014007 {source="MONDO:equivalentTo"} xref: UMLS:C1857829 {source="Orphanet:168796", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:168796/e", source="OMIM:610140"} is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0016432 {source="MONDO:cjm"} ! heart-hand syndrome property_value: exactMatch http://identifiers.org/mesh/C535852 property_value: exactMatch http://identifiers.org/snomedct/721014007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857829 property_value: exactMatch https://omim.org/entry/610140 property_value: exactMatch Orphanet:168796 property_value: excluded_subClassOf MONDO:0016337 {source="Orphanet:168796"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9846/heart-hand-syndrome-slovenian-type xsd:anyURI {source="GARD:0009846"} [Term] id: MONDO:0012423 name: MORM syndrome def: "MORM syndrome is characterized by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34." [Orphanet:75858] subset: gard_rare {source="GARD:0010121"} subset: ordo_disease {source="Orphanet:75858"} synonym: "intellectual disability, truncal obesity, retinal dystrophy and micropenis" RELATED [GARD:0010121] synonym: "intellectual disability, truncal obesity, retinal dystrophy, and micropenis syndrome" RELATED [MONDO:Lexical, OMIM:610156] synonym: "intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome" EXACT [Orphanet:75858] synonym: "mental retardation, truncal obesity, retinal dystrophy and micropenis" RELATED DEPRECATED [GARD:0010121] synonym: "mental retardation, truncal obesity, retinal dystrophy, and micropenis" EXACT [OMIM:610156, OMIM:genemap2] synonym: "mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome" RELATED DEPRECATED [MONDO:Lexical, OMIM:610156] synonym: "mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome" EXACT DEPRECATED [Orphanet:75858] synonym: "MORM syndrome" EXACT [OMIM:610156] synonym: "MORMS" RELATED DEPRECATED [MONDO:Lexical, OMIM:610156] xref: MESH:C536984 {source="MONDO:equivalentTo", source="Orphanet:75858", source="Orphanet:75858/e"} xref: OMIM:610156 {source="MONDO:equivalentTo", source="Orphanet:75858", source="Orphanet:75858/e"} xref: Orphanet:75858 {source="OMIM:610156", source="MONDO:equivalentTo"} xref: SCTID:715628009 {source="MONDO:equivalentTo"} xref: UMLS:C1857802 {source="OMIM:610156", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:75858", source="Orphanet:75858/e"} is_a: MONDO:0016565 {source="Orphanet:75858"} ! syndromic genetic obesity is_a: MONDO:0019118 {source="MONDO:Redundant", source="Orphanet:75858"} ! inherited retinal dystrophy property_value: exactMatch http://identifiers.org/mesh/C536984 property_value: exactMatch http://identifiers.org/snomedct/715628009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857802 property_value: exactMatch https://omim.org/entry/610156 property_value: exactMatch Orphanet:75858 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10121/morm-syndrome xsd:anyURI {source="GARD:0010121"} [Term] id: MONDO:0012426 name: immunodeficiency 25 def: "Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD247 gene." [MONDO:patterns/disease_series_by_gene] synonym: "CD247 severe combined immunodeficiency (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "CD3zeta deficiency" EXACT [MONDO:0000571] synonym: "IMD25" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610163] synonym: "immunodeficiency 25" EXACT [MONDO:Lexical, OMIM:610163] synonym: "immunodeficiency due to defect in CD3-zeta" RELATED [OMIM:610163] synonym: "immunodeficiency type 25" EXACT [MONDORULE:2, OMIM:610163] synonym: "severe combined immunodeficiency (disease) caused by mutation in CD247" EXACT [] xref: DOID:0060007 {source="MONDO:equivalentTo"} xref: DOID:0111942 {source="MONDO:equivalentTo"} xref: MESH:C565712 {source="MONDO:equivalentTo"} xref: OMIM:610163 {source="MONDO:equivalentTo"} xref: UMLS:C1857798 {source="OMIM:610163", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015703 {source="Orphanet:169160/btnt"} ! T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta property_value: exactMatch DOID:0060007 property_value: exactMatch DOID:0111942 property_value: exactMatch http://identifiers.org/mesh/C565712 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857798 property_value: exactMatch https://omim.org/entry/610163 [Term] id: MONDO:0012431 name: diaphragmatic hernia 3 def: "Any congenital diaphragmatic hernia in which the cause of the disease is a mutation in the ZFPM2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "congenital diaphragmatic hernia caused by mutation in ZFPM2" EXACT [MONDO:design_pattern] synonym: "diaphragmatic hernia 3" EXACT [MONDO:Lexical, OMIM:610187] synonym: "diaphragmatic hernia type 3" EXACT [MONDORULE:1, OMIM:610187] synonym: "DIH3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610187] synonym: "ZFPM2 congenital diaphragmatic hernia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MESH:C565710 {source="MONDO:equivalentTo"} xref: OMIM:610187 {source="MONDO:equivalentTo"} is_a: EFO:0007216 {source="DC-OMIM:610187", source="MONDO:Redundant", source="OMIM:610187"} ! congenital diaphragmatic hernia property_value: exactMatch http://identifiers.org/mesh/C565710 property_value: exactMatch https://omim.org/entry/610187 [Term] id: MONDO:0012435 name: 3-methylglutaconic aciduria type 5 def: "A syndrome characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria." [Orphanet:66634] subset: gard_rare subset: ordo_disease {source="Orphanet:66634"} synonym: "3 alpha methylglutaconic aciduria type V" RELATED [GARD:0010344] synonym: "3 methylglutaconic aciduria type V" RELATED [GARD:0010344] synonym: "3-methylglutaconic aciduria caused by mutation in DNAJC19" EXACT [MONDO:design_pattern] synonym: "3-methylglutaconic aciduria type 5" EXACT [Orphanet:66634] synonym: "3-methylglutaconic aciduria type V" EXACT [DOID:0110000] synonym: "3-Methylglutaconic aciduria, type 5" RELATED [OMIM:610198] synonym: "3-METHYLGLUTACONIC aciduria, type V" RELATED [MONDO:Lexical, OMIM:610198] synonym: "cardiomyopathy, dilated, with ataxia" RELATED [OMIM:610198] synonym: "DCMA" EXACT ABBREVIATION [DOID:0110000] synonym: "DCMA syndrome" EXACT [DOID:0110000, Orphanet:66634] synonym: "dilated cardiomyopathy with ataxia" EXACT [DOID:0110000] synonym: "DNAJC19 3-methylglutaconic aciduria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "MGA 5" RELATED [GARD:0010344] synonym: "MGA V" RELATED [GARD:0010344] synonym: "Mga, type 5" RELATED [OMIM:610198] synonym: "MGA5" EXACT ABBREVIATION [DOID:0110000, Orphanet:66634] synonym: "MGCA5" EXACT ABBREVIATION [DOID:0110000, MONDO:Lexical, OMIM:610198] xref: DOID:0110000 {source="MONDO:equivalentTo"} xref: MESH:C565706 {source="MONDO:equivalentTo"} xref: NCIT:C173146 {source="MONDO:equivalentTo"} xref: OMIM:610198 {source="Orphanet:66634", source="GARD:0010344", source="MONDO:equivalentTo", source="Orphanet:66634/e", source="DOID:0110000"} xref: Orphanet:66634 {source="OMIM:610198", source="MONDO:equivalentTo", source="DOID:0110000"} xref: SCTID:711412004 {source="MONDO:equivalentTo"} xref: UMLS:C1857776 {source="Orphanet:66634", source="OMIM:610198", source="GARD:0010344", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4039473 {source="MONDO:equivalentObsolete"} is_a: MONDO:0017359 {source="DC-OMIM:610198", source="DOID:0110000", source="MONDO:Redundant", source="OMIM:610198", source="Orphanet:66634"} ! 3-methylglutaconic aciduria property_value: exactMatch DOID:0110000 property_value: exactMatch http://identifiers.org/mesh/C565706 property_value: exactMatch http://identifiers.org/snomedct/711412004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857776 property_value: exactMatch https://omim.org/entry/610198 property_value: exactMatch NCIT:C173146 property_value: exactMatch Orphanet:66634 property_value: excluded_subClassOf MONDO:0016337 {source="Orphanet:66634"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10344/3-methylglutaconic-aciduria-type-v xsd:anyURI {source="GARD:0010344"} [Term] id: MONDO:0012436 name: neonatal diabetes mellitus with congenital hypothyroidism def: "A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others" [Orphanet:79118] subset: ordo_disease {source="Orphanet:79118"} synonym: "diabetes mellitus, neonatal, with congenital hypothyroidism" RELATED [OMIM:610199] synonym: "NDH" RELATED ABBREVIATION [OMIM:610199] synonym: "NDH syndrome" EXACT [DOID:0060638] synonym: "Ndh syndrome" RELATED [OMIM:610199] synonym: "neonatal diabetes mellitus with congenital hypothyroidism" EXACT [] synonym: "neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome" RELATED [Orphanet:79118] xref: DOID:0060638 {source="MONDO:equivalentTo"} xref: MESH:C565705 {source="MONDO:equivalentTo"} xref: OMIM:610199 {source="Orphanet:79118", source="MONDO:equivalentTo", source="Orphanet:79118/e", source="DOID:0060638"} xref: Orphanet:79118 {source="OMIM:610199", source="MONDO:equivalentTo", source="DOID:0060638"} xref: UMLS:C1857775 {source="OMIM:610199", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0016391 {source="DOID:0060638"} ! neonatal diabetes mellitus relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch DOID:0060638 property_value: exactMatch http://identifiers.org/mesh/C565705 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857775 property_value: exactMatch https://omim.org/entry/610199 property_value: exactMatch Orphanet:79118 property_value: excluded_subClassOf MONDO:0019741 {source="Orphanet:79118"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0012438 name: pontocerebellar hypoplasia type 5 def: "Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5." [Orphanet:166068] subset: gard_rare {source="GARD:0010709"} subset: ordo_malformation_syndrome {source="Orphanet:166068"} synonym: "fetal-onset olivopontocerebellar hypoplasia" EXACT [Orphanet:166068] synonym: "olivopontocerebellar hypoplasia fetal-onset" RELATED [GARD:0010709] synonym: "olivopontocerebellar hypoplasia, fetal-onset" RELATED [OMIM:610204] synonym: "PCH5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610204, Orphanet:166068] synonym: "pontocerebellar hypoplasia, type 5" RELATED [MONDO:Lexical, OMIM:610204] xref: DOID:0060274 {source="MONDO:equivalentTo"} xref: MESH:C537745 {source="DOID:0060274", source="MONDO:equivalentTo"} xref: OMIM:610204 {source="DOID:0060274", source="Orphanet:166068", source="MONDO:equivalentTo", source="Orphanet:166068/e"} xref: Orphanet:166068 {source="DOID:0060274", source="MONDO:equivalentObsolete", source="OMIM:610204"} xref: SCTID:718607001 {source="MONDO:equivalentTo"} xref: UMLS:C1857762 {source="DOID:0060274", source="Orphanet:166068", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610204"} is_a: MONDO:0020135 {source="DC-OMIM:610204", source="DOID:0060274", source="OMIM:610204", source="Orphanet:166068"} ! pontocerebellar hypoplasia property_value: exactMatch DOID:0060274 property_value: exactMatch http://identifiers.org/mesh/C537745 property_value: exactMatch http://identifiers.org/snomedct/718607001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857762 property_value: exactMatch https://omim.org/entry/610204 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10709/pontocerebellar-hypoplasia-type-5 xsd:anyURI {source="GARD:0010709"} [Term] id: MONDO:0012439 name: Alagille syndrome due to a NOTCH2 point mutation subset: ordo_etiological_subtype {source="Orphanet:261629"} synonym: "Alagille syndrome 2" RELATED [MONDO:Lexical, OMIM:610205] synonym: "Alagille syndrome due to a NOTCH2 point mutation" EXACT [] synonym: "Alagille syndrome type 2" EXACT [MONDORULE:1, OMIM:610205] synonym: "Alagille-Watson syndrome due to a NOTCH2 point mutation" EXACT [Orphanet:261629] synonym: "ALGS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610205] synonym: "Arteriohepatic dysplasia due to a NOTCH2 point mutation" EXACT [Orphanet:261629] synonym: "syndromic bile duct paucity due to a NOTCH2 point mutation" EXACT [Orphanet:261629] xref: OMIM:610205 {source="Orphanet:261629", source="MONDO:equivalentTo", source="Orphanet:261629/e"} xref: Orphanet:261629 {source="MONDO:equivalentTo", source="OMIM:610205"} xref: UMLS:C1857761 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610205"} is_a: MONDO:0007318 {source="OMIM:610205", source="Orphanet:261629"} ! Alagille syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857761 property_value: exactMatch https://omim.org/entry/610205 property_value: exactMatch Orphanet:261629 [Term] id: MONDO:0012446 name: seborrhea-like dermatitis with psoriasiform elements subset: ordo_disease {source="Orphanet:168606"} synonym: "seborrhea-like dermatitis with psoriasiform elements" EXACT [OMIM:610227] xref: MESH:C565217 {source="MONDO:equivalentTo"} xref: OMIM:610227 {source="Orphanet:168606/e", source="MONDO:equivalentTo", source="Orphanet:168606"} xref: Orphanet:168606 {source="MONDO:equivalentTo", source="OMIM:610227"} xref: UMLS:C1853258 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610227", source="Orphanet:168606"} is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease property_value: exactMatch http://identifiers.org/mesh/C565217 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853258 property_value: exactMatch https://omim.org/entry/610227 property_value: exactMatch Orphanet:168606 [Term] id: MONDO:0012447 name: synpolydactyly type 3 subset: ordo_clinical_subtype {source="Orphanet:295199"} synonym: "SD2, Malik type" EXACT [Orphanet:295199] synonym: "SD2c" EXACT [Orphanet:295199] synonym: "SPD, Malik type" EXACT [Orphanet:295199] synonym: "SPD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610234, Orphanet:295199] synonym: "synpolydactyly 3" RELATED [MONDO:Lexical, OMIM:610234] synonym: "synpolydactyly, Malik type" EXACT [Orphanet:295199] xref: MESH:C565216 {source="MONDO:equivalentTo"} xref: OMIM:610234 {source="Orphanet:295199", source="MONDO:equivalentTo", source="Orphanet:295199/e"} xref: Orphanet:295199 {source="OMIM:610234", source="MONDO:equivalentTo"} xref: UMLS:C1853255 {source="OMIM:610234", source="Orphanet:295199", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000722 {source="DC-OMIM:610234"} ! non-syndromic synpolydactyly property_value: exactMatch http://identifiers.org/mesh/C565216 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853255 property_value: exactMatch https://omim.org/entry/610234 property_value: exactMatch Orphanet:295199 [Term] id: MONDO:0012448 name: hereditary spastic paraplegia 33 def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ZFYVE27 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant spastic paraplegia 33" EXACT [DOID:0110784] synonym: "hereditary spastic paraplegia caused by mutation in ZFYVE27" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 33" EXACT [DOID:0110784, MONDORULE:2] synonym: "spastic paraplegia 33, autosomal dominant" RELATED [MONDO:Lexical, OMIM:610244] synonym: "SPG33" EXACT ABBREVIATION [DOID:0110784, MONDO:Lexical, OMIM:610244] synonym: "ZFYVE27 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110784 {source="MONDO:equivalentTo"} xref: MESH:C565214 {source="MONDO:equivalentTo"} xref: OMIM:610244 {source="MONDO:equivalentTo", source="DOID:0110784"} xref: UMLS:C1853251 {source="OMIM:610244", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019064 {source="DC-OMIM:610244", source="DOID:0110784", source="MESH:C565214", source="MONDO:Redundant", source="OMIM:610244"} ! hereditary spastic paraplegia property_value: exactMatch DOID:0110784 property_value: exactMatch http://identifiers.org/mesh/C565214 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853251 property_value: exactMatch https://omim.org/entry/610244 [Term] id: MONDO:0012449 name: spinocerebellar ataxia type 23 def: "Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." [Orphanet:101108] subset: ordo_disease {source="Orphanet:101108"} synonym: "SCA23" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610245, Orphanet:101108] synonym: "spinocerebellar ataxia 23" RELATED [MONDO:Lexical, OMIM:610245] synonym: "spinocerebellar ataxia type 23" EXACT [MONDORULE:2, OMIM:610245] xref: DOID:0050973 {source="MONDO:equivalentTo"} xref: MESH:C537201 {source="MONDO:equivalentTo", source="Orphanet:101108", source="Orphanet:101108/e"} xref: OMIM:610245 {source="DOID:0050973", source="MONDO:equivalentTo", source="Orphanet:101108", source="Orphanet:101108/e"} xref: Orphanet:101108 {source="OMIM:610245", source="MONDO:equivalentTo"} xref: SCTID:718772002 {source="MONDO:equivalentTo"} xref: UMLS:C1853250 {source="OMIM:610245", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:101108", source="Orphanet:101108/e"} xref: UMLS:C4305146 {source="MONDO:equivalentObsolete"} is_a: MONDO:0019792 {source="Orphanet:101108"} ! autosomal dominant cerebellar ataxia type I property_value: exactMatch DOID:0050973 property_value: exactMatch http://identifiers.org/mesh/C537201 property_value: exactMatch http://identifiers.org/snomedct/718772002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853250 property_value: exactMatch https://omim.org/entry/610245 property_value: exactMatch Orphanet:101108 [Term] id: MONDO:0012450 name: spinocerebellar ataxia type 28 def: "Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." [Orphanet:101109] subset: ordo_disease {source="Orphanet:101109"} synonym: "SCA28" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610246, Orphanet:101109] synonym: "spinocerebellar ataxia 28" RELATED [MONDO:Lexical, OMIM:610246] synonym: "spinocerebellar ataxia type 28" EXACT [MONDORULE:2, OMIM:610246] xref: DOID:0050977 {source="MONDO:equivalentTo"} xref: MESH:C537205 {source="Orphanet:101109/e", source="MONDO:equivalentTo", source="Orphanet:101109"} xref: OMIM:610246 {source="Orphanet:101109/e", source="MONDO:equivalentTo", source="DOID:0050977", source="Orphanet:101109"} xref: Orphanet:101109 {source="MONDO:equivalentTo", source="OMIM:610246"} xref: SCTID:715824008 {source="MONDO:equivalentTo"} xref: UMLS:C1853249 {source="Orphanet:101109/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610246", source="Orphanet:101109"} xref: UMLS:C4274988 {source="MONDO:equivalentObsolete"} is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0019792 {source="Orphanet:101109"} ! autosomal dominant cerebellar ataxia type I property_value: exactMatch DOID:0050977 property_value: exactMatch http://identifiers.org/mesh/C537205 property_value: exactMatch http://identifiers.org/snomedct/715824008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853249 property_value: exactMatch https://omim.org/entry/610246 property_value: exactMatch Orphanet:101109 [Term] id: MONDO:0012453 name: hereditary spastic paraplegia 31 def: "A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense." [Orphanet:101011] subset: ordo_disease {source="Orphanet:101011"} synonym: "autosomal dominant spastic paraplegia 31" EXACT [DOID:0110782] synonym: "autosomal dominant spastic paraplegia type 31" EXACT [DOID:0110782] synonym: "hereditary spastic paraplegia caused by mutation in REEP1" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 31" EXACT [DOID:0110782, MONDORULE:2] synonym: "REEP1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "spastic paraplegia 31" RELATED [GARD:0010817] synonym: "spastic paraplegia 31, autosomal dominant" RELATED [MONDO:Lexical, OMIM:610250] synonym: "SPG31" EXACT ABBREVIATION [DOID:0110782, MONDO:Lexical, OMIM:610250, Orphanet:101011] xref: DOID:0110782 {source="MONDO:equivalentTo"} xref: MESH:C565210 {source="MONDO:equivalentTo"} xref: OMIM:610250 {source="Orphanet:101011", source="MONDO:equivalentTo", source="Orphanet:101011/e", source="DOID:0110782"} xref: Orphanet:101011 {source="MONDO:equivalentTo", source="DOID:0110782", source="OMIM:610250"} xref: SCTID:763068005 {source="MONDO:equivalentTo"} xref: UMLS:C1853247 {source="Orphanet:101011", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:101011/e", source="OMIM:610250"} is_a: MONDO:0017914 {source="Orphanet:101011"} ! pure or complex autosomal dominant spastic paraplegia property_value: exactMatch DOID:0110782 property_value: exactMatch http://identifiers.org/mesh/C565210 property_value: exactMatch http://identifiers.org/snomedct/763068005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853247 property_value: exactMatch https://omim.org/entry/610250 property_value: exactMatch Orphanet:101011 [Term] id: MONDO:0012455 name: Kleefstra syndrome def: "A genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features." [Orphanet:261494] subset: gard_rare {source="GARD:0008672"} subset: ordo_malformation_syndrome {source="Orphanet:261494"} subset: prototype_pattern synonym: "9Q subtelomeric deletion syndrome" EXACT [OMIM:610253] synonym: "9Q- syndrome" EXACT [OMIM:610253] synonym: "9q-syndrome" EXACT [DOID:0060352] synonym: "9q34 deletion syndrome" EXACT [DOID:0060352] synonym: "9q34.3 microdeletion syndrome" EXACT [GARD:0008672] synonym: "chromosome 9q deletion syndrome" EXACT [GARD:0008672] synonym: "chromosome 9Q34.3 deletion syndrome" EXACT [OMIM:610253] synonym: "Kleefstra syndrome" EXACT [OMIM:610253] xref: DOID:0080597 {source="MONDO:equivalentTo"} xref: OMIMPS:610253 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:261494 {source="DOID:0060352", source="OMIM:610253", source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0015159 {source="Orphanet:261494"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch DOID:0080597 property_value: exactMatch https://omim.org/phenotypicSeries/PS610253 property_value: exactMatch Orphanet:261494 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:261494", source="https://clinicalgenome.org/affiliation/40060/"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8672/kleefstra-syndrome xsd:anyURI {source="GARD:0008672"} [Term] id: MONDO:0012456 name: congenital primary aphakia def: "Congenital primary aphakia (CPA) is characterized by an absence of the lens. The prevalence is unknown. CPA can be associated with variable secondary ocular defects (including aplasia/dysplasia of the anterior segment of the eye, microphthalmia, and in some cases absence of the iris, retinal dysplasia, or sclerocornea). CPA results from early developmental arrest, around the 4th-5th week of embryogenesis, which prevents the formation of any lens structure. Mutations in the FOXE3 gene were identified in three affected siblings born to consanguineous parents." [Orphanet:83461] subset: ordo_malformation_syndrome {source="Orphanet:83461"} synonym: "anterior segment dysgenesis 2" RELATED [OMIM:610256] synonym: "anterior segment dysgenesis 2, multiple subtypes" EXACT [OMIM:610256, OMIM:genemap2] synonym: "aphakia, congenital primary" EXACT [DOID:11367, OMIM:610256] synonym: "ASGD2" RELATED ABBREVIATION [OMIM:610256] synonym: "congenital absence of lens" EXACT [DOID:11367] synonym: "congenital aphakia" EXACT [Orphanet:83461] synonym: "CPA" RELATED ABBREVIATION [OMIM:610256] xref: DOID:0080607 {source="MONDO:equivalentTo"} xref: DOID:11367 {source="MONDO:equivalentTo"} xref: ICD10CM:Q12.3 {source="Orphanet:83461", source="MONDO:equivalentTo", source="Orphanet:83461/e", source="DOID:11367", source="Orphanet:83461/specific"} xref: ICD9:743.35 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11367"} xref: MedDRA:10002947 {source="Orphanet:83461", source="Orphanet:83461/e"} xref: MESH:C537786 {source="Orphanet:83461", source="MONDO:equivalentTo", source="Orphanet:83461/e"} xref: NCIT:C35172 {source="MONDO:equivalentTo", source="DOID:11367"} xref: OMIM:610256 {source="Orphanet:83461", source="MONDO:equivalentTo", source="Orphanet:83461/e", source="DOID:11367"} xref: Orphanet:83461 {source="OMIM:610256", source="MONDO:equivalentTo"} xref: SCTID:35387008 {source="MONDO:equivalentTo", source="DOID:11367"} is_a: EFO:0009674 {source="DOID:11367", source="MESH:C537786/inferred", source="NCIT:C35172/inferred"} ! lens disease is_a: MONDO:0019503 {source="DC-OMIM:610256", source="OMIM:610256"} ! anterior segment dysgenesis property_value: closeMatch http://identifiers.org/meddra/10002947 property_value: exactMatch DOID:0080607 property_value: exactMatch DOID:11367 property_value: exactMatch http://identifiers.org/mesh/C537786 property_value: exactMatch http://identifiers.org/snomedct/35387008 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q12.3 property_value: exactMatch https://omim.org/entry/610256 property_value: exactMatch NCIT:C35172 property_value: exactMatch Orphanet:83461 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012462 name: autosomal recessive frontotemporal pachygyria subset: ordo_malformation_syndrome {source="Orphanet:329329"} synonym: "pachygyria, frontotemporal" RELATED [OMIM:610279] xref: MESH:C538092 {source="MONDO:equivalentTo"} xref: OMIM:610279 {source="MONDO:equivalentTo"} xref: Orphanet:329329 {source="MONDO:equivalentTo"} xref: UMLS:C1853215 {source="Orphanet:329329", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610279"} is_a: MONDO:0016054 {source="Orphanet:329329"} ! cerebral malformation property_value: exactMatch http://identifiers.org/mesh/C538092 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853215 property_value: exactMatch https://omim.org/entry/610279 property_value: exactMatch Orphanet:329329 [Term] id: MONDO:0012465 name: hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency def: "The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI." [Orphanet:83639] subset: gard_rare {source="GARD:0009965"} subset: ordo_disease {source="Orphanet:83639"} synonym: "congenital disorder of glycosylation due to PIGM deficiency" RELATED [GARD:0009965] synonym: "glycosylphosphatidylinositol biosynthesis defect 1" RELATED [OMIM:610293] synonym: "glycosylphosphatidylinositol deficiency" RELATED [OMIM:610293] synonym: "GPI deficiency" RELATED [OMIM:610293] synonym: "GPID" RELATED ABBREVIATION [OMIM:610293] synonym: "PIGM-CDG" EXACT [Orphanet:83639] xref: OMIM:610293 {source="Orphanet:83639/e", source="MONDO:equivalentTo", source="Orphanet:83639"} xref: Orphanet:83639 {source="MONDO:equivalentTo", source="OMIM:610293"} xref: SCTID:724344004 {source="MONDO:equivalentTo"} xref: UMLS:C1853205 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:83639", source="OMIM:610293"} xref: UMLS:C4510605 {source="MONDO:equivalentTo"} is_a: MONDO:0009332 ! congenital hematological disorder is_a: MONDO:0017748 {source="Orphanet:83639"} ! inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation is_a: MONDO:0021181 {source="MONDO:0016633-obsoleted"} ! inherited blood coagulation disorder property_value: exactMatch http://identifiers.org/snomedct/724344004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853205 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510605 property_value: exactMatch https://omim.org/entry/610293 property_value: exactMatch Orphanet:83639 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9965/hypercoagulability-syndrome-due-to-glycosylphosphatidylinositol-deficiency xsd:anyURI {source="GARD:0009965"} [Term] id: MONDO:0012475 name: cone dystrophy with supernormal rod response def: "Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation." [Orphanet:209932] subset: ordo_disease {source="Orphanet:209932"} synonym: "cone dystrophy with night blindness and supernormal rod responses KCNV2 related" RELATED [GARD:0010649] synonym: "cone dystrophy with night blindness and supernormal Rod responses, Kcnv2-related" RELATED [OMIM:610356] synonym: "cone dystrophy with supernormal rod electroretinogram" EXACT [Orphanet:209932] synonym: "cone dystrophy with supernormal rod ERG" EXACT [Orphanet:209932] synonym: "cone dystrophy with supernormal rod response" EXACT [] synonym: "cone dystrophy with supernormal Rod responses" RELATED [OMIM:610356] synonym: "cone dystrophy with supernormal scotopic electroretinogram" EXACT [Orphanet:209932] synonym: "RCD3B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610356] synonym: "retinal cone dystrophy 3B" RELATED [MONDO:Lexical, OMIM:610356] synonym: "retinal cone dystrophy type 3B" EXACT [MONDORULE:4, OMIM:610356] xref: DOID:0081022 {source="MONDO:equivalentTo"} xref: MESH:C563678 {source="MONDO:equivalentTo"} xref: OMIM:610356 {source="Orphanet:209932/e", source="MONDO:equivalentTo", source="Orphanet:209932"} xref: Orphanet:209932 {source="MONDO:equivalentTo", source="OMIM:610356"} xref: SCTID:719455002 {source="MONDO:equivalentTo"} xref: UMLS:C1835897 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610356"} xref: UMLS:C4304714 {source="MONDO:equivalentTo"} is_a: MONDO:0000455 {source="DC-OMIM:610356"} ! cone dystrophy property_value: exactMatch DOID:0081022 property_value: exactMatch http://identifiers.org/mesh/C563678 property_value: exactMatch http://identifiers.org/snomedct/719455002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835897 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304714 property_value: exactMatch https://omim.org/entry/610356 property_value: exactMatch Orphanet:209932 [Term] id: MONDO:0012476 name: hereditary spastic paraplegia 30 def: "Autosomal spastic paraplegia type 30 (SPG30) is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, usteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy." [Orphanet:101010] subset: ordo_disease {source="Orphanet:101010"} synonym: "autosomal recessive spastic paraplegia 30" EXACT [DOID:0110781] synonym: "autosomal spastic paraplegia type 30" EXACT [DOID:0110781] synonym: "hereditary spastic paraplegia caused by mutation in KIF1A" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 30" EXACT [DOID:0110781, MONDORULE:2] synonym: "KIF1A hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "spastic paraplegia 30, autosomal dominant" EXACT [OMIM:610357, OMIM:genemap2] synonym: "spastic paraplegia 30, autosomal recessive" RELATED [MONDO:Lexical, OMIM:610357] synonym: "SPG30" EXACT ABBREVIATION [DOID:0110781, MONDO:Lexical, OMIM:610357, Orphanet:101010] xref: DOID:0110781 {source="MONDO:equivalentTo"} xref: MESH:C563677 {source="MONDO:equivalentTo"} xref: OMIM:610357 {source="Orphanet:101010/e", source="MONDO:equivalentTo", source="DOID:0110781", source="Orphanet:101010"} xref: Orphanet:101010 {source="MONDO:equivalentTo", source="OMIM:610357", source="DOID:0110781"} xref: SCTID:763377006 {source="MONDO:equivalentTo"} xref: UMLS:C1835896 {source="MONDO:equivalentTo", source="OMIM:610357", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:101010"} is_a: MONDO:0017914 {source="Orphanet:101010"} ! pure or complex autosomal dominant spastic paraplegia is_a: MONDO:0017915 {source="Orphanet:101010"} ! pure or complex autosomal recessive spastic paraplegia is_a: MONDO:0700055 {source="https://orcid.org/0000-0002-8134-1207"} ! KIF1A related neurological disorder property_value: exactMatch DOID:0110781 property_value: exactMatch http://identifiers.org/mesh/C563677 property_value: exactMatch http://identifiers.org/snomedct/763377006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835896 property_value: exactMatch https://omim.org/entry/610357 property_value: exactMatch Orphanet:101010 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012479 name: congenital malabsorptive diarrhea 4 def: "Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells is an exceedingly rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration, and severe diarrhea unresponsive to various nutrients and formulas, and require home parenteral nutrition. Diabetes mellitus has also been reported." [Orphanet:83620] subset: ordo_disease {source="Orphanet:83620"} synonym: "congenital diarrhea caused by mutation in NEUROG3" EXACT [MONDO:design_pattern] synonym: "congenital diarrhoea caused by mutation in NEUROG3" EXACT OMO:0003005 [] synonym: "congenital malabsorptive diarrhea due to paucity of enteroendocrine cells" EXACT [DOID:0060779] synonym: "congenital malabsorptive diarrhea type 4" EXACT [DOID:0060779, MONDORULE:1] synonym: "congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells" EXACT OMO:0003005 [] synonym: "congenital malabsorptive diarrhoea type 4" EXACT OMO:0003005 [] synonym: "DIAR4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610370] synonym: "diarrhea 4, malabsorptive, congenital" RELATED [MONDO:Lexical, OMIM:610370] synonym: "diarrhoea 4, malabsorptive, congenital" RELATED OMO:0003005 [] synonym: "enteric anendocrinosis" EXACT [DOID:0060779, OMIM:610370, Orphanet:83620] synonym: "NEUROG3 congenital diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "NEUROG3 congenital diarrhoea" EXACT OMO:0003005 [] xref: DOID:0060779 {source="MONDO:equivalentTo"} xref: MESH:C563673 {source="MONDO:equivalentTo"} xref: OMIM:610370 {source="Orphanet:83620", source="MONDO:equivalentTo", source="Orphanet:83620/e", source="DOID:0060779"} xref: Orphanet:83620 {source="MONDO:equivalentTo", source="DOID:0060779", source="OMIM:610370"} xref: SCTID:722392003 {source="MONDO:equivalentTo"} xref: UMLS:C1835888 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610370"} is_a: MONDO:0000824 {source="DC-OMIM:610370", source="DOID:0060779", source="MONDO:Redundant", source="OMIM:610370"} ! congenital diarrhea is_a: MONDO:0015182 {source="Orphanet:83620"} ! congenital enteropathy involving intestinal mucosa development property_value: exactMatch DOID:0060779 property_value: exactMatch http://identifiers.org/mesh/C563673 property_value: exactMatch http://identifiers.org/snomedct/722392003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835888 property_value: exactMatch https://omim.org/entry/610370 property_value: exactMatch Orphanet:83620 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0012481 name: mevalonic aciduria def: "Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes." [Orphanet:29] subset: gard_rare {source="GARD:0003588"} subset: ordo_disease {source="Orphanet:29"} synonym: "complete mevalonate kinase deficiency" EXACT [Orphanet:29] synonym: "HIDS" EXACT ABBREVIATION [NCIT:C84890] synonym: "hyperimmunoglobulin D with periodic fever syndrome" EXACT [NCIT:C84890] synonym: "MEVA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610377] synonym: "mevalonic aciduria" EXACT [MONDO:Lexical, OMIM:610377] synonym: "Mevalonicaciduria" RELATED [GARD:0003588] synonym: "MKD" EXACT ABBREVIATION [NCIT:C84890] synonym: "MVA" EXACT ABBREVIATION [Orphanet:29] xref: DOID:0050452 {source="MONDO:equivalentTo"} xref: MedDRA:10072219 {source="Orphanet:29", source="Orphanet:29/e"} xref: NCIT:C84890 {source="DOID:0050452", source="MONDO:equivalentTo"} xref: OMIM:610377 {source="DOID:0050452", source="MONDO:equivalentTo", source="Orphanet:29", source="Orphanet:29/e"} xref: Orphanet:29 {source="OMIM:610377", source="MONDO:equivalentTo"} xref: SCTID:718558008 {source="MONDO:equivalentTo"} xref: UMLS:C0398691 {source="DOID:0050452", source="MONDO:directSiblingOf"} xref: UMLS:C1959626 {source="DOID:0050452", source="OMIM:610377", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C84890", source="Orphanet:29", source="Orphanet:29/e"} is_a: EFO:0003966 ! eye disease is_a: MONDO:0017708 {source="Orphanet:29", source="https://clinicalgenome.org/affiliation/40049/"} ! mevalonate kinase deficiency property_value: closeMatch http://identifiers.org/meddra/10072219 property_value: exactMatch DOID:0050452 property_value: exactMatch http://identifiers.org/snomedct/718558008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1959626 property_value: exactMatch https://omim.org/entry/610377 property_value: exactMatch NCIT:C84890 property_value: exactMatch Orphanet:29 property_value: excluded_subClassOf MONDO:0019053 {source="DOID:0050452"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3588/mevalonic-aciduria xsd:anyURI {source="GARD:0003588"} [Term] id: MONDO:0012488 name: hepatitis B virus, susceptibility to subset: predisposition synonym: "HBV, resistance to" RELATED [OMIM:610424] synonym: "HBV, susceptibility to" RELATED [OMIM:610424] synonym: "hepatitis B virus infection, susceptibility to" EXACT [OMIM:610424, OMIM:genemap2] synonym: "Hepatitis B Virus, resistance to" RELATED [OMIM:610424] synonym: "hepatitis b virus, susceptibility to" EXACT [OMIM:610424] xref: OMIM:610424 {source="MONDO:equivalentTo"} xref: UMLS:C3552304 {source="MONDO:equivalentTo", source="OMIM:610424"} is_a: MONDO:0020573 {source="OMIM:610424", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility relationship: predisposes_towards EFO:0000508 {source="OMIM:610424"} ! genetic disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3552304 property_value: exactMatch https://omim.org/entry/610424 property_value: excluded_subClassOf MONDO:0003847 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4882 xsd:anyURI [Term] id: MONDO:0012495 name: spondyloepimetaphyseal dysplasia, Genevieve type def: "A rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips." [https://orcid.org/0000-0001-5208-3432, Orphanet:168454] subset: ordo_disease {source="Orphanet:168454"} synonym: "Nans deficiency" RELATED [OMIM:610442] synonym: "SEMD Genevieve type" RELATED [GARD:0010057] synonym: "SEMD, Genevieve type" RELATED [OMIM:610442] synonym: "SEMD, Geneviève type" EXACT [Orphanet:168454] synonym: "SEMDG" EXACT ABBREVIATION [Orphanet:168454] synonym: "spondyloepimetaphyseal dysplasia Genevieve type" RELATED [GARD:0010057] synonym: "spondyloepimetaphyseal dysplasia, Camera-Genevieve type" EXACT [OMIM:610442, OMIM:genemap2] synonym: "spondyloepimetaphyseal dysplasia, Genevieve type" EXACT [OMIM:610442] synonym: "spondyloepimetaphyseal dysplasia, Geneviève type" RELATED [Orphanet:168454] xref: DOID:0080576 {source="MONDO:equivalentTo"} xref: MESH:C535785 {source="Orphanet:168454", source="MONDO:equivalentTo", source="Orphanet:168454/e"} xref: OMIM:610442 {source="Orphanet:168454", source="MONDO:equivalentTo", source="Orphanet:168454/e"} xref: Orphanet:168454 {source="OMIM:610442", source="MONDO:equivalentTo"} xref: UMLS:C1864872 {source="Orphanet:168454", source="OMIM:610442", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:168454/e"} is_a: MONDO:0100510 {source="PMID:31633310", source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia property_value: exactMatch DOID:0080576 property_value: exactMatch http://identifiers.org/mesh/C535785 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864872 property_value: exactMatch https://omim.org/entry/610442 property_value: exactMatch Orphanet:168454 property_value: excluded_subClassOf MONDO:0016761 {source="DC-OMIM:610442", source="Orphanet:168454"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5280 xsd:anyURI [Term] id: MONDO:0012496 name: Koolen-de Vries syndrome def: "A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior." [Orphanet:96169] comment: Editor note: DOID classifies as non-syndromic but we classify as syndromic subset: ordo_malformation_syndrome {source="Orphanet:96169"} synonym: "17q21.31 deletion syndrome" RELATED [GARD:0010727] synonym: "chromosome 17Q21.31 deletion syndrome" RELATED [OMIM:610443] synonym: "chromosome 17q21.31 deletion syndrome" EXACT [DOID:0070076] synonym: "chromosome 17q21.31 microdeletion syndrome" RELATED [GARD:0010727] synonym: "KANSL1-related intellectual disability syndrome" EXACT [DOID:0050880] synonym: "KDVS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610443] synonym: "KdVS" EXACT [DOID:0050880, Orphanet:96169] synonym: "Koolen de Vries syndrome" EXACT [] synonym: "Koolen-DE Vries syndrome" RELATED [MONDO:Lexical, OMIM:610443] synonym: "Koolen-De Vries syndrome" EXACT [DOID:0050880] synonym: "microdeletion 17Q21.31 syndrome" RELATED [OMIM:610443] synonym: "microdeletion 17q21.31 syndrome" EXACT [DOID:0070076] xref: OMIM:610443 {source="DOID:0070076", source="DOID:0050880", source="Orphanet:96169", source="MONDO:equivalentTo", source="Orphanet:96169/e"} xref: Orphanet:96169 {source="DOID:0050880", source="OMIM:610443", source="MONDO:equivalentTo"} xref: UMLS:CN776874 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:96169"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776874 property_value: exactMatch https://omim.org/entry/610443 property_value: exactMatch Orphanet:96169 property_value: excluded_subClassOf MONDO:0015802 {source="DOID:0070076"} [Term] id: MONDO:0012502 name: normophosphatemic familial tumoral calcinosis subset: gard_rare {source="GARD:0010878"} subset: ordo_clinical_subtype {source="Orphanet:306658"} synonym: "calcinosis, tumoral, with Normophosphatemia" RELATED [OMIM:610455] synonym: "familial normophosphatemic tumoral calcinosis" RELATED [Orphanet:306658] synonym: "NFTC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610455] synonym: "normophosphatemic familial tumoral calcinosis" EXACT [] synonym: "tumoral calcinosis, familial, normophosphatemic" EXACT [OMIM:610455, OMIM:genemap2] synonym: "tumoral calcinosis, normophosphatemic, familial" RELATED [MONDO:Lexical, OMIM:610455] xref: DOID:0080170 {source="MONDO:equivalentTo"} xref: MESH:C566473 {source="MONDO:equivalentTo"} xref: OMIM:610455 {source="Orphanet:306658", source="MONDO:equivalentTo", source="Orphanet:306658/e", source="DOID:0080170"} xref: Orphanet:306658 {source="MONDO:equivalentTo", source="OMIM:610455"} is_a: EFO:0009385 {source="DC-OMIM:610455", source="Orphanet:306658"} ! familial tumoral calcinosis property_value: exactMatch DOID:0080170 property_value: exactMatch http://identifiers.org/mesh/C566473 property_value: exactMatch https://omim.org/entry/610455 property_value: exactMatch Orphanet:306658 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10878/normophosphatemic-familial-tumoral-calcinosis xsd:anyURI {source="GARD:0010878"} [Term] id: MONDO:0012503 name: thiopurine S-methyltransferase deficiency def: "An inherited metabolic disease that is has its basis in the disruption of thiopurine S-methyltransferase activity." [MONDO:patterns/inborn_metabolic] synonym: "6-mercaptopurine sensitivity" RELATED [GARD:0005173] synonym: "inborn error of thiopurine S-methyltransferase activity" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn thiopurine S-methyltransferase activity disorder" EXACT [] synonym: "poor metabolism of thiopurines-1" EXACT [DOID:0080172] synonym: "rare inborn error of thiopurine S-methyltransferase activity" EXACT [MONDO:patterns/inborn_metabolic] synonym: "thiopurine methyltransferase deficiency" RELATED [GARD:0005173] synonym: "thiopurine S methyltranferase deficiency" RELATED [GARD:0005173] synonym: "thiopurine S-methyltransferase deficiency" EXACT [OMIM:610460] synonym: "Thiopurines, poor metabolism of" RELATED [OMIM:610460] synonym: "Thiopurines, poor metabolism of, 1" RELATED [OMIM:610460] synonym: "thiopurines, poor metabolism of, 1" RELATED [OMIM:610460] synonym: "THPM1" RELATED ABBREVIATION [OMIM:610460] synonym: "TPMT deficiency" EXACT [DOID:0080172, OMIM:610460] xref: DOID:0080172 {source="MONDO:equivalentTo"} xref: MESH:C536512 {source="MONDO:equivalentTo"} xref: NCIT:C4389 {source="MONDO:equivalentTo"} xref: OMIM:610460 {source="MONDO:equivalentTo", source="DOID:0080172"} xref: Orphanet:3315 {source="OMIM:610460", source="MONDO:equivalentObsolete"} xref: SCTID:238012003 {source="MONDO:equivalentTo"} is_a: MONDO:0000210 {source="DC-OMIM:610460", source="OMIM:610460"} ! thiopurine metabolic disease property_value: exactMatch DOID:0080172 property_value: exactMatch http://identifiers.org/mesh/C536512 property_value: exactMatch http://identifiers.org/snomedct/238012003 property_value: exactMatch https://omim.org/entry/610460 property_value: exactMatch NCIT:C4389 [Term] id: MONDO:0012504 name: camptodactyly-tall stature-scoliosis-hearing loss syndrome def: "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." [Orphanet:85164] subset: gard_rare subset: ordo_disease {source="Orphanet:85164"} synonym: "camptodactyly, tall stature, and hearing loss syndrome" RELATED [OMIM:610474] synonym: "CATSHL syndrome" EXACT [DOID:0111160, GARD:0010012, OMIM:610474, Orphanet:85164] synonym: "CATSHLS" RELATED ABBREVIATION [OMIM:610474] xref: DOID:0111160 {source="MONDO:equivalentTo"} xref: MESH:C537975 {source="MONDO:equivalentTo"} xref: OMIM:610474 {source="GARD:0010012", source="DOID:0111160", source="Orphanet:85164/e", source="MONDO:equivalentTo", source="Orphanet:85164"} xref: Orphanet:85164 {source="GARD:0010012", source="OMIM:610474", source="DOID:0111160", source="MONDO:equivalentTo"} xref: UMLS:C1864852 {source="GARD:0010012", source="OMIM:610474", source="DOID:0111160", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:85164"} is_a: MONDO:0000429 {source="DOID:0111160"} ! autosomal genetic disease is_a: MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin is_a: MONDO:0019685 {source="Orphanet:85164", source="PMID:31633310"} ! FGFR3-related chondrodysplasia property_value: exactMatch DOID:0111160 property_value: exactMatch http://identifiers.org/mesh/C537975 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864852 property_value: exactMatch https://omim.org/entry/610474 property_value: exactMatch Orphanet:85164 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0012508 name: agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome def: "A syndrome that combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation." [Orphanet:83617] subset: ordo_malformation_syndrome {source="Orphanet:83617"} synonym: "agammaglobulinemia, microcephaly, and severe dermatitis" RELATED [OMIM:610483] xref: MESH:C538055 {source="MONDO:equivalentTo"} xref: OMIM:610483 {source="Orphanet:83617/e", source="MONDO:equivalentTo", source="Orphanet:83617"} xref: Orphanet:83617 {source="OMIM:610483", source="MONDO:equivalentTo"} xref: SCTID:722281001 {source="MONDO:equivalentTo"} xref: UMLS:C1864848 {source="OMIM:610483", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0001902 ! congenital agammaglobulinemia is_a: MONDO:0015159 {source="Orphanet:83617"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0016463 {source="Orphanet:83617"} ! syndromic agammaglobulinemia property_value: exactMatch http://identifiers.org/mesh/C538055 property_value: exactMatch http://identifiers.org/snomedct/722281001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864848 property_value: exactMatch https://omim.org/entry/610483 property_value: exactMatch Orphanet:83617 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:83617"} property_value: excluded_subClassOf MONDO:0005093 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5682 xsd:anyURI [Term] id: MONDO:0012510 name: combined oxidative phosphorylation defect type 2 def: "Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined." [Orphanet:254920] subset: ordo_disease {source="Orphanet:254920"} synonym: "combined oxidative phosphorylation deficiency 2" RELATED [MONDO:Lexical, OMIM:610498] synonym: "combined oxidative phosphorylation deficiency caused by mutation in MRPS16" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 2" EXACT [MONDORULE:1, OMIM:610498] synonym: "corpus callosum, agenesis of, with Dysmorphism and fatal lactic acidosis" RELATED [OMIM:610498] synonym: "COXPD2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610498, Orphanet:254920] synonym: "MRPS16 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111483 {source="MONDO:equivalentTo"} xref: MESH:C566468 {source="MONDO:equivalentTo"} xref: OMIM:610498 {source="MONDO:equivalentTo", source="Orphanet:254920", source="Orphanet:254920/e"} xref: Orphanet:254920 {source="OMIM:610498", source="MONDO:equivalentTo"} xref: SCTID:764943000 {source="MONDO:equivalentTo"} xref: UMLS:C1864843 {source="OMIM:610498", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:254920"} is_a: MONDO:0000732 {source="DC-OMIM:610498", source="MONDO:Redundant", source="OMIM:610498"} ! combined oxidative phosphorylation deficiency property_value: exactMatch DOID:0111483 property_value: exactMatch http://identifiers.org/mesh/C566468 property_value: exactMatch http://identifiers.org/snomedct/764943000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864843 property_value: exactMatch https://omim.org/entry/610498 property_value: exactMatch Orphanet:254920 [Term] id: MONDO:0012511 name: preterm premature rupture of the membranes def: "A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation." [DOID:0111144] synonym: "PPROM" EXACT ABBREVIATION [DOID:0111144, MONDO:Lexical, OMIM:610504] synonym: "preterm premature rupture of the membranes" EXACT [MONDO:Lexical, OMIM:610504] synonym: "preterm premature rupture of the membranes, susceptibility to" EXACT [OMIM:610504, OMIM:genemap2] xref: DOID:0111144 {source="MONDO:equivalentTo"} xref: MESH:C563032 {source="MONDO:equivalentTo"} xref: NCIT:C92862 {source="MONDO:equivalentTo"} xref: OMIM:610504 {source="MONDO:equivalentTo", source="DOID:0111144"} xref: SCTID:312974005 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: EFO:0009549 {source="DOID:0111144"} ! female reproductive system disease property_value: exactMatch DOID:0111144 property_value: exactMatch http://identifiers.org/mesh/C563032 property_value: exactMatch http://identifiers.org/snomedct/312974005 property_value: exactMatch https://omim.org/entry/610504 property_value: exactMatch NCIT:C92862 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012512 name: fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 def: "Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy." [Orphanet:168566] subset: ordo_disease {source="Orphanet:168566"} synonym: "combined oxidative phosphorylation deficiency 3" RELATED [MONDO:Lexical, OMIM:610505] synonym: "combined oxidative phosphorylation deficiency caused by mutation in TSFM" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 3" EXACT [MONDORULE:1, OMIM:610505] synonym: "concentric cardiomyopathy, hypotonia, and lactic acidosis" RELATED [OMIM:610505] synonym: "COXPD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610505] synonym: "encephalomyopathy, respiratory failure, and lactic acidosis" RELATED [OMIM:610505] synonym: "fatal mitochondrial disease due to COXPD3" EXACT [Orphanet:168566] synonym: "TSFM combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111486 {source="MONDO:equivalentTo"} xref: MESH:C566467 {source="MONDO:equivalentTo"} xref: OMIM:610505 {source="Orphanet:168566", source="MONDO:equivalentTo", source="Orphanet:168566/e"} xref: Orphanet:168566 {source="MONDO:equivalentTo", source="OMIM:610505"} xref: SCTID:720951008 {source="MONDO:equivalentTo"} is_a: MONDO:0000732 {source="DC-OMIM:610505", source="MONDO:Redundant", source="OMIM:610505"} ! combined oxidative phosphorylation deficiency property_value: exactMatch DOID:0111486 property_value: exactMatch http://identifiers.org/mesh/C566467 property_value: exactMatch http://identifiers.org/snomedct/720951008 property_value: exactMatch https://omim.org/entry/610505 property_value: exactMatch Orphanet:168566 [Term] id: MONDO:0012514 name: hypomyelinating leukodystrophy 5 def: "Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit." [Orphanet:85163] subset: ordo_malformation_syndrome {source="Orphanet:85163"} synonym: "FAM126A leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "HLD5" EXACT ABBREVIATION [DOID:0060793, MONDO:Lexical, OMIM:610532] synonym: "hypomyelinating leukodystrophy type 5" EXACT [DOID:0060793, MONDORULE:1] synonym: "hypomyelination - congenital cataract" RELATED [GARD:0011980] synonym: "hypomyelination and congenital cataract" RELATED [GARD:0011980] synonym: "hypomyelination and congenital cataract: HCC" RELATED [OMIM:610532] synonym: "hypomyelination-congenital cataract syndrome" EXACT [DOID:0060793] synonym: "leukodystrophy caused by mutation in FAM126A" EXACT [MONDO:design_pattern] synonym: "leukodystrophy, hypomyelinating, 5" RELATED [MONDO:Lexical, OMIM:610532] synonym: "leukodystrophy, hypomyelinating, type 5" EXACT [MONDORULE:1, OMIM:610532] xref: DOID:0060793 {source="MONDO:equivalentTo"} xref: ICD9:341.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C567166 {source="MONDO:equivalentTo"} xref: OMIM:610532 {source="Orphanet:85163/e", source="DOID:0060793", source="MONDO:equivalentTo", source="Orphanet:85163"} xref: Orphanet:85163 {source="DOID:0060793", source="MONDO:equivalentTo", source="OMIM:610532"} xref: SCTID:702379005 {source="MONDO:equivalentTo"} xref: UMLS:C1864663 {source="MONDO:equivalentTo", source="OMIM:610532", source="Orphanet:85163"} is_a: MONDO:0019046 {source="DOID:0060793", source="DOID:0060793/inferred", source="MONDO:Redundant", source="OMIM:610532", source="Orphanet:85163"} ! leukodystrophy property_value: exactMatch DOID:0060793 property_value: exactMatch http://identifiers.org/mesh/C567166 property_value: exactMatch http://identifiers.org/snomedct/702379005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864663 property_value: exactMatch https://omim.org/entry/610532 property_value: exactMatch Orphanet:85163 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:85163"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0012516 name: mandibulofacial dysostosis-microcephaly syndrome def: "Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability." [Orphanet:79113] subset: ordo_malformation_syndrome {source="Orphanet:79113"} synonym: "Growth and intellectual disability, mandibulofacial dysostosis, microcephaly, and cleft palate" RELATED [OMIM:610536] synonym: "Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate" RELATED DEPRECATED [OMIM:610536] synonym: "Growth delay - intellectual disability - mandibulofacial dysostosis - microcephaly - cleft palate" RELATED [GARD:0010056] synonym: "Growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome" RELATED [GARD:0010056] synonym: "mandibulofacial dysostosis with microcephaly" EXACT [DOID:0080196, OMIM:610536] synonym: "mandibulofacial dysostosis, Guion-Almeida type" EXACT [MONDO:Lexical, OMIM:610536, Orphanet:79113] synonym: "mandibulofacial dysostosis-microcephaly syndrome" EXACT [] synonym: "MFDGA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610536] synonym: "MFDM" RELATED ABBREVIATION [GARD:0010056] synonym: "MFDM syndrome" EXACT [Orphanet:79113] xref: DOID:0080196 {source="MONDO:equivalentTo"} xref: MESH:C537405 {source="MONDO:equivalentTo"} xref: OMIM:610536 {source="DOID:0080196", source="Orphanet:79113/e", source="MONDO:equivalentTo", source="Orphanet:79113"} xref: Orphanet:79113 {source="MONDO:equivalentTo", source="OMIM:610536"} xref: SCTID:711543008 {source="MONDO:equivalentTo"} xref: UMLS:C1864652 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610536", source="Orphanet:79113"} is_a: MONDO:0000426 {source="DOID:0080196", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0015159 {source="Orphanet:79113"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015334 {source="Orphanet:79113"} ! branchial arch or oral-acral syndrome is_a: MONDO:0018237 {source="Orphanet:79113"} ! acrofacial dysostosis is_a: MONDO:0800085 {source="PMID:31633310"} ! dysostosis with predominant craniofacial involvement property_value: exactMatch DOID:0080196 property_value: exactMatch http://identifiers.org/mesh/C537405 property_value: exactMatch http://identifiers.org/snomedct/711543008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864652 property_value: exactMatch https://omim.org/entry/610536 property_value: exactMatch Orphanet:79113 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:79113", source="https://clinicalgenome.org/affiliation/40060/"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0012517 name: Gaucher disease due to saposin C deficiency def: "Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_clinical_subtype {source="Orphanet:309252"} synonym: "atypical Gaucher disease due to saposin C deficiency" EXACT [Orphanet:309252] synonym: "atypical Gaucher's disease due to saposin c deficiency" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] synonym: "Gaucher disease caused by mutation in PSAP" EXACT [MONDO:design_pattern] synonym: "Gaucher disease, atypical" RELATED [GARD:0012503] synonym: "Gaucher disease, atypical, due to saposin C deficiency" RELATED [OMIM:610539] synonym: "PSAP Gaucher disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110961 {source="MONDO:equivalentTo"} xref: MESH:C566435 {source="MONDO:equivalentTo"} xref: OMIM:610539 {source="Orphanet:309252", source="MONDO:equivalentTo", source="Orphanet:309252/e", source="DOID:0110961"} xref: Orphanet:309252 {source="MONDO:equivalentTo", source="OMIM:610539", source="DOID:0110961"} xref: UMLS:C1864651 {source="Orphanet:309252", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610539"} is_a: MONDO:0100517 {source="https://clinicalgenome.org/affiliation/50009/"} ! PSAP-related sphingolipidosis property_value: exactMatch DOID:0110961 property_value: exactMatch http://identifiers.org/mesh/C566435 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864651 property_value: exactMatch https://omim.org/entry/610539 property_value: exactMatch Orphanet:309252 property_value: excluded_subClassOf MONDO:0018150 {source="DC-OMIM:610539", source="DOID:0110961", source="MESH:C566435", source="Orphanet:309252"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6019 xsd:anyURI [Term] id: MONDO:0012519 name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion def: "Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders." [GARD:0010754] subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:353281"} synonym: "16p13.3 deletion syndrome" RELATED [GARD:0010754] synonym: "chromosome 16p13.3 deletion syndrome" RELATED [OMIM:610543, OMIM:genemap2] synonym: "chromosome 16p13.3 deletion syndrome, proximal" RELATED [OMIM:610543] synonym: "Rsts deletion syndrome" RELATED [OMIM:610543] synonym: "Rubinstein-Taybi deletion syndrome" RELATED [OMIM:610543] xref: OMIM:610543 {source="Orphanet:353281/e", source="MONDO:equivalentTo", source="GARD:0010754", source="Orphanet:353281"} xref: Orphanet:353281 {source="MONDO:equivalentTo", source="OMIM:610543"} xref: UMLS:C1864648 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610543"} is_a: MONDO:0022752 ! chromosome 16p13.3 deletion syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864648 property_value: exactMatch https://omim.org/entry/610543 property_value: exactMatch Orphanet:353281 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10754/chromosome-16p133-deletion-syndrome xsd:anyURI {source="GARD:0010754"} [Term] id: MONDO:0012520 name: insulin-resistance syndrome type A def: "Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight." [Orphanet:2297] subset: ordo_disease {source="Orphanet:2297"} synonym: "diabetes mellitus, insulin-resistant, with acanthosis nigricans" RELATED [OMIM:610549] synonym: "diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a" RELATED [OMIM:610549] synonym: "insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans" RELATED [OMIM:610549] synonym: "insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism" EXACT [NCIT:C131836] synonym: "insulin-resistant acanthosis nigricans, type A" RELATED [GARD:0003008] synonym: "Iran, type a" RELATED [OMIM:610549] synonym: "type A insulin resistance syndrome" EXACT [NCIT:C131836] xref: EFO:1001503 {source="MONDO:equivalentTo"} xref: MESH:C562710 {source="MONDO:equivalentTo"} xref: NCIT:C131836 {source="MONDO:equivalentTo"} xref: OMIM:610549 {source="Orphanet:2297", source="MONDO:equivalentTo", source="Orphanet:2297/e"} xref: Orphanet:2297 {source="MONDO:equivalentTo", source="OMIM:610549"} is_a: MONDO:0001933 {source="MONDO:Redundant", source="NCIT:C131836"} ! endocrine pancreas disorder property_value: exactMatch http://identifiers.org/mesh/C562710 property_value: exactMatch https://omim.org/entry/610549 property_value: exactMatch NCIT:C131836 property_value: exactMatch Orphanet:2297 property_value: excluded_subClassOf MONDO:0005015 {source="MONDO:0015885-obsoleted"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5723 xsd:anyURI [Term] id: MONDO:0012521 name: herpes simplex encephalitis def: "Herpes simplex virus encephalitis (HSE) is caused by the infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. HSV often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness." [Orphanet:1930] subset: gard_rare {source="GARD:0006649"} subset: ordo_disease {source="Orphanet:1930"} synonym: "Herpes simplex meningo-encephalitis" EXACT [Orphanet:1930] synonym: "Herpes simplex neuroinvasion" EXACT [Orphanet:1930] synonym: "Herpes simplex virus encephalitis" RELATED [Orphanet:1930] synonym: "herpetic encephalitis" EXACT [Orphanet:1930] synonym: "HSE" EXACT ABBREVIATION [Orphanet:1930] synonym: "HSV encephalitis" EXACT [Orphanet:1930] synonym: "HSVE" EXACT ABBREVIATION [Orphanet:1930] synonym: "Simplexvirus caused infectious encephalitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Simplexvirus infectious encephalitis" EXACT [] xref: ICD10EXP:B00.4+ {source="Orphanet:1930", source="Orphanet:1930/specific", source="Orphanet:1930/e"} xref: ICD10EXP:G05.1* {source="Orphanet:1930", source="Orphanet:1930/specific", source="Orphanet:1930/e"} xref: MESH:D020803 {source="MONDO:equivalentTo"} xref: NCIT:C84762 {source="MONDO:equivalentTo"} xref: Orphanet:1930 {source="OMIM:610551", source="MONDO:equivalentTo"} is_a: EFO:0007538 {source="MONDO:Redundant", source="NCIT:C84762", source="Orphanet:1930"} ! viral encephalitis is_a: EFO:1002022 ! Herpes simplex infection property_value: exactMatch http://identifiers.org/mesh/D020803 property_value: exactMatch NCIT:C84762 property_value: exactMatch Orphanet:1930 property_value: excluded_subClassOf MONDO:0015659 {source="Orphanet:1930"} property_value: excluded_subClassOf MONDO:0015979 {source="Orphanet:1930"} property_value: excluded_subClassOf MONDO:0020141 {source="Orphanet:1930"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6649/herpes-simplex-encephalitis xsd:anyURI {source="GARD:0006649"} [Term] id: MONDO:0012524 name: corticosterone methyloxidase type 2 deficiency synonym: "18-oxidase deficiency" RELATED [OMIM:610600] synonym: "aldosterone deficiency 2" RELATED [OMIM:610600] synonym: "aldosterone deficiency due to deficiency of steroid 18-oxidase" RELATED [OMIM:610600] synonym: "Cmo 2 deficiency" RELATED [OMIM:610600] synonym: "corticosterone methyloxidase type II deficiency" RELATED [OMIM:610600] synonym: "hyperreninemic hypoaldosteronism, familial, 1" RELATED [OMIM:610600] synonym: "hypoaldosteronism, congenital, due to CMO II deficiency" EXACT [OMIM:610600, OMIM:genemap2] synonym: "steroid 18-oxidase deficiency" RELATED [OMIM:610600] xref: OMIM:610600 {source="MONDO:equivalentTo"} xref: UMLS:C3463917 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610600"} is_a: MONDO:0020489 {source="Orphanet:99763/btnt"} ! familial hyperreninemic hypoaldosteronism type 1 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3463917 property_value: exactMatch https://omim.org/entry/610600 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012526 name: hereditary angioedema type 3 def: "Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." [Orphanet:100054] subset: ordo_etiological_subtype {source="Orphanet:100054"} synonym: "angioedema, hereditary, 3" EXACT [OMIM:610618, OMIM:genemap2] synonym: "angioedema, hereditary, type 3" RELATED [OMIM:610618] synonym: "angioedema, hereditary, type III" RELATED [MONDO:Lexical, OMIM:610618] synonym: "angioneurotic edema, hereditary, with normal C1 inhibitor concentration and function" RELATED [OMIM:610618] synonym: "estrogen-related Hae" RELATED [OMIM:610618] synonym: "estrogen-sensitive Hae" RELATED [OMIM:610618] synonym: "F12 hereditary angioedema" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "HAE 3" EXACT [Orphanet:100054] synonym: "Hae 3" RELATED [OMIM:610618] synonym: "Hae with normal C1 inhibitor concentration and function" RELATED [OMIM:610618] synonym: "HAE-III" EXACT [Orphanet:100054] synonym: "HAE3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610618] synonym: "hereditary angioedema caused by mutation in F12" EXACT [MONDO:design_pattern] synonym: "hereditary angioedema type 3" EXACT [] synonym: "hereditary angioedema with normal C1 inhibitor activity" RELATED [OMIM:610618] synonym: "hereditary angioneurotic edema type 3" EXACT [Orphanet:100054] synonym: "hereditary angioneurotic oedema type 3" EXACT OMO:0003005 [] synonym: "inherited estrogen-associated angioedema" EXACT [Orphanet:100054] synonym: "inherited estrogen-associated angioneurotic edema" EXACT [Orphanet:100054] synonym: "inherited estrogen-associated angioneurotic oedema" EXACT OMO:0003005 [] synonym: "inherited estrogen-dependent angioedema" EXACT [Orphanet:100054] synonym: "inherited estrogen-dependent angioneurotic edema" EXACT [Orphanet:100054] synonym: "inherited estrogen-dependent angioneurotic oedema" EXACT OMO:0003005 [] xref: DOID:0080940 {source="MONDO:equivalentTo"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D056828 {source="Orphanet:100054", source="MONDO:equivalentTo", source="Orphanet:100054/e"} xref: OMIM:610618 {source="Orphanet:100054", source="MONDO:equivalentTo", source="Orphanet:100054/e"} xref: Orphanet:100054 {source="MONDO:equivalentTo", source="OMIM:610618"} xref: SCTID:427167008 {source="MONDO:equivalentTo"} is_a: MONDO:0033947 {source="DC-OMIM:610618", source="MESH:D056828", source="MONDO:Redundant", source="Orphanet:100054"} ! hereditary angioedema with normal C1Inh property_value: exactMatch DOID:0080940 property_value: exactMatch http://identifiers.org/mesh/D056828 property_value: exactMatch http://identifiers.org/snomedct/427167008 property_value: exactMatch https://omim.org/entry/610618 property_value: exactMatch Orphanet:100054 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012530 name: palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome def: "Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterized by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The etiology is unknown." [Orphanet:85112] subset: ordo_disease {source="Orphanet:85112"} synonym: "palmoplantar hyperkeratosis and true hermaphroditism" RELATED [OMIM:610644] synonym: "palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX SEX reversal" RELATED [OMIM:610644] synonym: "palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal" EXACT [OMIM:610644, OMIM:genemap2] synonym: "palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome" EXACT [Orphanet:85112] xref: MESH:C567165 {source="MONDO:equivalentTo"} xref: OMIM:610644 {source="Orphanet:85112", source="MONDO:equivalentTo", source="Orphanet:85112/e"} xref: Orphanet:85112 {source="MONDO:equivalentTo", source="OMIM:610644"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0017666 {source="MONDO:0017671-obsoleted"} ! diffuse palmoplantar keratoderma is_a: MONDO:0957024 ! hereditary 46,XX disorder of sex development property_value: exactMatch http://identifiers.org/mesh/C567165 property_value: exactMatch https://omim.org/entry/610644 property_value: exactMatch Orphanet:85112 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012531 name: xeroderma pigmentosum group B def: "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC3 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare synonym: "ERCC3 xeroderma pigmentosum" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "xeroderma pigmentosum B/Cockayne syndrome" RELATED [OMIM:610651] synonym: "xeroderma pigmentosum caused by mutation in ERCC3" EXACT [MONDO:design_pattern] synonym: "xeroderma pigmentosum group B" EXACT [] synonym: "xeroderma pigmentosum group type B" EXACT [DOID:0110850, MONDORULE:1] synonym: "xeroderma pigmentosum, complementation group B" RELATED [MONDO:Lexical, OMIM:610651] synonym: "xeroderma pigmentosum, complementation group type B" EXACT [MONDORULE:1, OMIM:610651] synonym: "xeroderma pigmentosum, group B" EXACT [OMIM:610651, OMIM:genemap2] synonym: "xeroderma pigmentosum, type 2" RELATED [GARD:0005625] synonym: "XP group B" EXACT [DOID:0110850] synonym: "XP, Group B" EXACT [OMIM:610651] synonym: "XP-B" EXACT [NCIT:C3966] synonym: "XPB" EXACT ABBREVIATION [DOID:0110850, MONDO:Lexical, OMIM:610651] synonym: "XPB/CS" RELATED [OMIM:610651] synonym: "XPBC" EXACT ABBREVIATION [DOID:0110850] xref: DOID:0110850 {source="MONDO:equivalentTo"} xref: MESH:C562590 {source="MONDO:equivalentTo"} xref: NCIT:C3966 {source="MONDO:equivalentTo"} xref: OMIM:610651 {source="MONDO:equivalentTo", source="DOID:0110850"} xref: Orphanet:276252 {source="MONDO:equivalentObsolete", source="OMIM:610651"} xref: SCTID:1073003 {source="MONDO:equivalentTo"} xref: UMLS:C0268136 {source="OMIM:610651", source="MONDO:equivalentTo", source="NCIT:C3966"} is_a: MONDO:0016354 {source="Orphanet:220295/btnt"} ! xeroderma pigmentosum-Cockayne syndrome complex is_a: MONDO:0019600 {source="DC-OMIM:610651", source="DOID:0110850", source="MESH:C562590", source="MONDO:Redundant", source="NCIT:C3966"} ! xeroderma pigmentosum property_value: exactMatch DOID:0110850 property_value: exactMatch http://identifiers.org/mesh/C562590 property_value: exactMatch http://identifiers.org/snomedct/1073003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268136 property_value: exactMatch https://omim.org/entry/610651 property_value: exactMatch NCIT:C3966 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012534 name: combined oxidative phosphorylation defect type 4 def: "Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy." [Orphanet:254925] subset: ordo_disease {source="Orphanet:254925"} synonym: "combined oxidative phosphorylation defect type 4" EXACT [] synonym: "combined oxidative phosphorylation deficiency 4" RELATED [MONDO:Lexical, OMIM:610678] synonym: "combined oxidative phosphorylation deficiency caused by mutation in TUFM" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 4" EXACT [MONDORULE:1, OMIM:610678] synonym: "COXPD4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610678, Orphanet:254925] synonym: "TUFM combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111494 {source="MONDO:equivalentTo"} xref: MESH:C565690 {source="MONDO:equivalentTo"} xref: OMIM:610678 {source="Orphanet:254925/e", source="MONDO:equivalentTo", source="Orphanet:254925"} xref: Orphanet:254925 {source="MONDO:equivalentTo", source="OMIM:610678"} xref: SCTID:766876004 {source="MONDO:equivalentTo"} xref: UMLS:C1857682 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610678", source="Orphanet:254925"} is_a: MONDO:0000732 {source="DC-OMIM:610678", source="MONDO:Redundant", source="OMIM:610678"} ! combined oxidative phosphorylation deficiency property_value: exactMatch DOID:0111494 property_value: exactMatch http://identifiers.org/mesh/C565690 property_value: exactMatch http://identifiers.org/snomedct/766876004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857682 property_value: exactMatch https://omim.org/entry/610678 property_value: exactMatch Orphanet:254925 [Term] id: MONDO:0012538 name: nemaline myopathy 7 def: "Any nemaline myopathy in which the cause of the disease is a mutation in the CFL2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "CFL2 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "NEM7" EXACT ABBREVIATION [DOID:0110934, MONDO:Lexical, OMIM:610687] synonym: "nemaline myopathy 7" EXACT [MONDO:Lexical, OMIM:610687] synonym: "nemaline myopathy 7, autosomal recessive" EXACT [DOID:0110934] synonym: "nemaline myopathy caused by mutation in CFL2" EXACT [MONDO:design_pattern] synonym: "nemaline myopathy type 7" EXACT [DOID:0110934, MONDORULE:1, OMIM:610687] xref: DOID:0110934 {source="MONDO:equivalentTo"} xref: MESH:C565198 {source="MONDO:equivalentTo"} xref: OMIM:610687 {source="DOID:0110934", source="MONDO:equivalentTo"} xref: UMLS:C1853154 {source="MONDO:equivalentTo", source="OMIM:610687", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015737 {source="Orphanet:171436/btnt"} ! typical nemaline myopathy property_value: exactMatch DOID:0110934 property_value: exactMatch http://identifiers.org/mesh/C565198 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853154 property_value: exactMatch https://omim.org/entry/610687 [Term] id: MONDO:0012541 name: deafness with labyrinthine aplasia, microtia, and microdontia def: "Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome." [Orphanet:90024] subset: ordo_malformation_syndrome {source="Orphanet:90024"} synonym: "congenital deafness with inner ear agenesis microtia and microdontia" RELATED [GARD:0010707] synonym: "deafness congenital with inner ear agenesis microtia and microdontia" RELATED [GARD:0010707] synonym: "deafness with labyrinthine aplasia microtia and microdontia (LAMM)" RELATED [GARD:0010707] synonym: "deafness with labyrinthine aplasia, microtia, and microdontia" EXACT [] synonym: "deafness with Lamm" RELATED [OMIM:610706] synonym: "deafness, congenital with inner ear agenesis, microtia, and microdontia" EXACT [OMIM:610706, OMIM:genemap2] synonym: "deafness, congenital, with inner EAR agenesis, microtia, and microdontia" RELATED [OMIM:610706] synonym: "deafness, congenital, with labyrinthine aplasia, microtia, and microdontia" RELATED [OMIM:610706] synonym: "LAMM syndrome" EXACT [Orphanet:90024] synonym: "microdontia-type I microtia-deafness syndrome" EXACT [Orphanet:90024] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C565195 {source="MONDO:equivalentTo"} xref: OMIM:610706 {source="MONDO:equivalentTo", source="Orphanet:90024", source="Orphanet:90024/e"} xref: Orphanet:90024 {source="MONDO:equivalentTo", source="OMIM:610706"} xref: SCTID:702360007 {source="MONDO:equivalentTo"} xref: UMLS:C1853144 {source="MONDO:equivalentTo", source="Orphanet:90024", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610706"} is_a: EFO:0000508 {source="Orphanet:90024/inferred"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C565195 property_value: exactMatch http://identifiers.org/snomedct/702360007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853144 property_value: exactMatch https://omim.org/entry/610706 property_value: exactMatch Orphanet:90024 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012544 name: brachydactyly-syndactyly syndrome def: "Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common." [Orphanet:93409] subset: ordo_malformation_syndrome {source="Orphanet:93409"} synonym: "BDSD" RELATED ABBREVIATION [OMIM:610713] synonym: "Bdsd" RELATED [OMIM:610713] synonym: "brachydactyly-syndactyly syndrome" EXACT [OMIM:610713] synonym: "brachydactyly-syndactyly, Zhao type" RELATED [Orphanet:93409] synonym: "brachydactyly-syndactyly-oligodactyly syndrome" RELATED [OMIM:610713] xref: DOID:0050689 {source="MONDO:equivalentTo"} xref: MESH:C565193 {source="MONDO:equivalentTo"} xref: OMIM:610713 {source="Orphanet:93409/e", source="DOID:0050689", source="MONDO:equivalentTo", source="Orphanet:93409"} xref: Orphanet:93409 {source="MONDO:equivalentTo", source="OMIM:610713"} xref: UMLS:C1853137 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610713"} is_a: EFO:0002461 {source="https://orcid.org/0000-0001-5208-3432"} ! skeletal system disease is_a: MONDO:0000429 {source="DOID:0050689"} ! autosomal genetic disease property_value: exactMatch DOID:0050689 property_value: exactMatch http://identifiers.org/mesh/C565193 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853137 property_value: exactMatch https://omim.org/entry/610713 property_value: exactMatch Orphanet:93409 [Term] id: MONDO:0012545 name: neutral lipid storage myopathy subset: ordo_disease {source="Orphanet:98908"} synonym: "neutral lipid storage disease with myopathy" RELATED [MONDO:Lexical, OMIM:610717] synonym: "neutral lipid storage disease with myopathy without ichthyosis" EXACT [Orphanet:98908] synonym: "neutral lipid storage disease without ichthyosis" RELATED [OMIM:610717] synonym: "NLSDM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610717, Orphanet:98908] synonym: "triglyceride deposit cardiomyovasculopathy" RELATED [Orphanet:98908] xref: OMIM:610717 {source="Orphanet:98908/e", source="MONDO:equivalentTo", source="Orphanet:98908"} xref: Orphanet:98908 {source="MONDO:equivalentTo", source="OMIM:610717"} xref: SCTID:699315005 {source="MONDO:equivalentTo"} is_a: MONDO:0015611 {source="Orphanet:98908"} ! neutral lipid storage disease property_value: exactMatch http://identifiers.org/snomedct/699315005 property_value: exactMatch https://omim.org/entry/610717 property_value: exactMatch Orphanet:98908 [Term] id: MONDO:0012548 name: Kostmann syndrome def: "Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients." [Orphanet:99749] subset: ordo_disease {source="Orphanet:99749"} synonym: "agranulocytosis infantile" RELATED [GARD:0000302] synonym: "agranulocytosis, infantile" RELATED [OMIM:610738] synonym: "infantile agranulocytosis" EXACT [Orphanet:99749] synonym: "Kostmann disease" RELATED [OMIM:610738] synonym: "neutropenia, severe congenital 3, autosomal recessive" EXACT [OMIM:610738, OMIM:genemap2] synonym: "neutropenia, severe congenital, 3, autosomal recessive" RELATED [MONDO:Lexical, OMIM:610738] synonym: "SCN3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610738] synonym: "severe congenital neutropenia autosomal recessive 3" RELATED [GARD:0000302] synonym: "severe congenital neutropenia type 3" EXACT [Orphanet:99749] xref: DOID:0112133 {source="MONDO:equivalentTo"} xref: OMIM:610738 {source="MONDO:equivalentTo", source="Orphanet:99749", source="Orphanet:99749/e"} xref: Orphanet:99749 {source="MONDO:equivalentTo", source="OMIM:610738"} xref: UMLS:CN032247 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015356 {source="Orphanet:99749"} ! hereditary neoplastic syndrome is_a: MONDO:0028226 ! autosomal recessive severe congenital neutropenia property_value: exactMatch DOID:0112133 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN032247 property_value: exactMatch https://omim.org/entry/610738 property_value: exactMatch Orphanet:99749 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012549 name: autosomal recessive ataxia, Beauce type def: "A rare disorder characterized by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations." [Orphanet:88644] subset: ordo_disease {source="Orphanet:88644"} synonym: "ARCA1" EXACT ABBREVIATION [Orphanet:88644] synonym: "ataxia, recessive, of Beauce" RELATED [OMIM:610743] synonym: "autosomal recessive ataxia Beauce type" RELATED [GARD:0012234] synonym: "autosomal recessive cerebellar ataxia type 1" EXACT [Orphanet:88644] synonym: "autosomal recessive spinocerebellar ataxia 8" RELATED [GARD:0012234] synonym: "cerebellar ataxia, autosomal recessive, type 1" RELATED [OMIM:610743] synonym: "recessive ataxia of Beauce" RELATED [GARD:0012234] synonym: "SCAR8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610743, Orphanet:88644] synonym: "spinocerebellar ataxia autosomal recessive 8" RELATED [GARD:0012234] synonym: "spinocerebellar ataxia, autosomal recessive 8" RELATED [MONDO:Lexical, OMIM:610743] synonym: "spinocerebellar ataxia, autosomal recessive type 8" EXACT [MONDORULE:1, OMIM:610743] synonym: "SYNE1-related autosomal recessive cerebellar ataxia" RELATED [GARD:0012234] xref: DOID:0111618 {source="MONDO:equivalentTo"} xref: OMIM:610743 {source="Orphanet:88644", source="MONDO:equivalentTo", source="Orphanet:88644/e"} xref: Orphanet:88644 {source="MONDO:equivalentTo", source="OMIM:610743"} xref: UMLS:C1853116 {source="Orphanet:88644", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610743"} xref: UMLS:C3683483 {source="Orphanet:88644", source="MONDO:equivalentTo"} is_a: MONDO:0015244 {source="Orphanet:88644"} ! autosomal recessive cerebellar ataxia property_value: exactMatch DOID:0111618 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853116 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3683483 property_value: exactMatch https://omim.org/entry/610743 property_value: exactMatch Orphanet:88644 [Term] id: MONDO:0012552 name: multiple endocrine neoplasia type 4 def: "Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN, an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors." [Orphanet:276152] subset: ordo_disease {source="Orphanet:276152"} synonym: "CDKN1B multiple endocrine neoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "MEN4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610755, Orphanet:276152] synonym: "multiple endocrine neoplasia caused by mutation in CDKN1B" EXACT [MONDO:design_pattern] synonym: "multiple endocrine neoplasia type 4" EXACT [] synonym: "multiple endocrine neoplasia, type 4" RELATED [OMIM:610755] synonym: "multiple endocrine neoplasia, type IV" EXACT [DOID:0080137, MONDO:Lexical, OMIM:610755] xref: DOID:0080137 {source="MONDO:equivalentTo"} xref: MESH:C567059 {source="MONDO:equivalentTo"} xref: NCIT:C157449 {source="MONDO:equivalentTo"} xref: OMIM:610755 {source="Orphanet:276152/e", source="MONDO:equivalentTo", source="DOID:0080137", source="Orphanet:276152"} xref: Orphanet:276152 {source="MONDO:equivalentTo", source="OMIM:610755"} xref: SCTID:715907003 {source="MONDO:equivalentTo"} xref: UMLS:C1970712 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610755", source="Orphanet:276152"} xref: UMLS:C4274947 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 {source="DOID:0080137", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0017169 {source="DC-OMIM:610755", source="MONDO:Redundant", source="OMIM:610755"} ! multiple endocrine neoplasia property_value: exactMatch DOID:0080137 property_value: exactMatch http://identifiers.org/mesh/C567059 property_value: exactMatch http://identifiers.org/snomedct/715907003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970712 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274947 property_value: exactMatch https://omim.org/entry/610755 property_value: exactMatch NCIT:C157449 property_value: exactMatch Orphanet:276152 [Term] id: MONDO:0012556 name: DK1-congenital disorder of glycosylation def: "DK1-CDG is characterized by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity." [Orphanet:91131] subset: ordo_disease {source="Orphanet:91131"} synonym: "carbohydrate deficient glycoprotein syndrome type Im" EXACT [Orphanet:91131] synonym: "CDG Im" RELATED [OMIM:610768] synonym: "CDG syndrome type Im" EXACT [Orphanet:91131] synonym: "CDG-Im" EXACT [Orphanet:91131] synonym: "CDG1M" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610768, Orphanet:91131] synonym: "CDGIm" RELATED [GARD:0012393] synonym: "congenital disorder of glycosylation type 1m" EXACT [Orphanet:91131] synonym: "congenital disorder of glycosylation type Im" EXACT [Orphanet:91131] synonym: "congenital disorder of glycosylation, type Im" RELATED [MONDO:Lexical, OMIM:610768] synonym: "Dk1 deficiency" RELATED [OMIM:610768] synonym: "DK1-CDG" EXACT ABBREVIATION [Orphanet:91131] synonym: "DK1-congenital disorder of glycosylation" EXACT [] synonym: "dolichol kinase deficiency" EXACT [OMIM:610768, Orphanet:91131] synonym: "DOLK-CDG (CDG-Im)" RELATED [GARD:0012393] synonym: "hypotonia and ichthyosis due to dolichol phosphate deficiency" EXACT [Orphanet:91131] xref: DOID:0080565 {source="MONDO:equivalentTo"} xref: MESH:C563666 {source="MONDO:equivalentTo"} xref: OMIM:610768 {source="Orphanet:91131", source="MONDO:equivalentTo", source="Orphanet:91131/e"} xref: Orphanet:91131 {source="MONDO:equivalentTo", source="OMIM:610768"} xref: SCTID:718712005 {source="MONDO:equivalentTo"} is_a: EFO:0005545 {source="DC-OMIM:610768"} ! congenital disorder of glycosylation type I is_a: MONDO:0016333 ! familial dilated cardiomyopathy is_a: MONDO:0017270 ! autosomal ichthyosis syndrome is_a: MONDO:0017749 {source="Orphanet:91131"} ! disorder of multiple glycosylation property_value: exactMatch DOID:0080565 property_value: exactMatch http://identifiers.org/mesh/C563666 property_value: exactMatch http://identifiers.org/snomedct/718712005 property_value: exactMatch https://omim.org/entry/610768 property_value: exactMatch Orphanet:91131 [Term] id: MONDO:0012557 name: cardiomyopathy-hypotonia-lactic acidosis syndrome def: "Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterized by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter." [Orphanet:91130] subset: ordo_disease {source="Orphanet:91130"} synonym: "hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome" EXACT [] synonym: "mitochondrial phosphate carrier deficiency" RELATED [OMIM:610773] synonym: "Mpcd" RELATED [OMIM:610773] xref: MESH:C563665 {source="MONDO:equivalentTo"} xref: OMIM:610773 {source="Orphanet:91130", source="MONDO:equivalentTo", source="Orphanet:91130/e"} xref: Orphanet:91130 {source="OMIM:610773", source="MONDO:equivalentTo"} xref: SCTID:718713000 {source="MONDO:equivalentTo"} xref: UMLS:C1835845 {source="Orphanet:91130", source="OMIM:610773", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4305259 {source="MONDO:equivalentTo"} is_a: EFO:1000017 {source="MONDO:Redundant"} ! autosomal recessive disease is_a: EFO:1000036 {source="https://orcid.org/0000-0001-5208-3432"} ! lactic acidosis is_a: MONDO:0016801 {source="Orphanet:91130"} ! mitochondrial substrate carrier disorder is_a: MONDO:0024573 ! familial hypertrophic cardiomyopathy property_value: exactMatch http://identifiers.org/mesh/C563665 property_value: exactMatch http://identifiers.org/snomedct/718713000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835845 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305259 property_value: exactMatch https://omim.org/entry/610773 property_value: exactMatch Orphanet:91130 [Term] id: MONDO:0012559 name: primary immunodeficiency syndrome due to p14 deficiency def: "Primary immunodeficiency syndrome due to p14 deficiency is characterized by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections." [Orphanet:90023] subset: ordo_disease {source="Orphanet:90023"} synonym: "immunodeficiency due to defect in MAPBP-interacting PROTEIN" RELATED [OMIM:610798] synonym: "immunodeficiency due to defect in Mapbp-interacting Protein" RELATED [OMIM:610798] synonym: "primary immunodeficiency syndrome due to LAMTOR2 deficiency" EXACT [Orphanet:90023] synonym: "primary immunodeficiency syndrome with short stature" EXACT [Orphanet:90023] xref: MESH:C563663 {source="MONDO:equivalentTo"} xref: OMIM:610798 {source="MONDO:equivalentTo", source="Orphanet:90023", source="Orphanet:90023/e"} xref: Orphanet:90023 {source="MONDO:equivalentTo", source="OMIM:610798"} xref: SCTID:718717004 {source="MONDO:equivalentTo"} xref: UMLS:C1835829 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:90023", source="OMIM:610798"} xref: UMLS:C4305256 {source="MONDO:equivalentTo"} is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia property_value: exactMatch http://identifiers.org/mesh/C563663 property_value: exactMatch http://identifiers.org/snomedct/718717004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835829 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305256 property_value: exactMatch https://omim.org/entry/610798 property_value: exactMatch Orphanet:90023 [Term] id: MONDO:0012561 name: congenital anomalies of kidney and urinary tract 1 def: "Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the DSTYK gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition synonym: "CAKUT1" EXACT ABBREVIATION [OMIM:610805] synonym: "congenital anomalies of kidney and urinary tract 1" EXACT [MONDO:Lexical, OMIM:610805] synonym: "congenital anomaly of kidney and urinary tract caused by mutation in DSTYK" EXACT [MONDO:design_pattern] synonym: "DSTYK congenital anomaly of kidney and urinary tract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "renal hypodysplasia, nonsyndromic, 1" EXACT [OMIM:610805] xref: DOID:0080206 {source="MONDO:equivalentTo"} xref: MESH:C563661 {source="MONDO:equivalentTo"} xref: OMIM:610805 {source="MONDO:equivalentTo", source="DOID:0080206"} xref: UMLS:C1835826 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610805"} is_a: MONDO:0019719 {source="DOID:0080206", source="MONDO:Redundant", source="OMIM:610805"} ! congenital anomaly of kidney and urinary tract property_value: exactMatch DOID:0080206 property_value: exactMatch http://identifiers.org/mesh/C563661 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835826 property_value: exactMatch https://omim.org/entry/610805 [Term] id: MONDO:0012565 name: Fanconi anemia complementation group N def: "Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "FANCN" EXACT ABBREVIATION [DOID:0111094, MONDO:Lexical, OMIM:610832] synonym: "Fanconi anaemia caused by mutation in PALB2" EXACT OMO:0003005 [] synonym: "Fanconi anaemia complementation group type N" EXACT OMO:0003005 [] synonym: "Fanconi anemia caused by mutation in PALB2" EXACT [MONDO:design_pattern] synonym: "Fanconi anemia complementation group N" EXACT [] synonym: "Fanconi anemia complementation group type N" EXACT [DOID:0111094, MONDORULE:1] synonym: "Fanconi anemia, complementation group N" RELATED [MONDO:Lexical, OMIM:610832] synonym: "Fanconi Anemia, complementation group type N" EXACT [MONDORULE:1, OMIM:610832] synonym: "PALB2 Fanconi anaemia" EXACT OMO:0003005 [] synonym: "PALB2 Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111094 {source="MONDO:equivalentTo"} xref: MESH:C563657 {source="MONDO:equivalentTo"} xref: OMIM:610832 {source="DOID:0111094", source="MONDO:equivalentTo"} xref: UMLS:C1835817 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610832"} is_a: MONDO:0019391 {source="DC-OMIM:610832", source="DOID:0111094", source="MESH:C563657", source="MONDO:Redundant", source="OMIM:610832"} ! Fanconi anemia property_value: exactMatch DOID:0111094 property_value: exactMatch http://identifiers.org/mesh/C563657 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835817 property_value: exactMatch https://omim.org/entry/610832 [Term] id: MONDO:0012570 name: body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency def: "Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs." [Orphanet:91135] subset: ordo_disease {source="Orphanet:91135"} synonym: "pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency" RELATED [OMIM:610842] synonym: "pseudoxanthoma elasticum-like syndrome" EXACT [Orphanet:91135] synonym: "PXE-like disorder with multiple coagulation Factor deficiency" RELATED [OMIM:610842] synonym: "PXE-like syndrome" EXACT [Orphanet:91135] xref: MESH:C563654 {source="MONDO:equivalentTo"} xref: OMIM:610842 {source="MONDO:equivalentTo", source="Orphanet:91135", source="Orphanet:91135/e"} xref: Orphanet:91135 {source="MONDO:equivalentTo", source="OMIM:610842"} xref: SCTID:717941005 {source="MONDO:equivalentTo"} xref: UMLS:C1835813 {source="MONDO:equivalentTo", source="Orphanet:91135", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610842"} xref: UMLS:C4049241 {source="MONDO:equivalentTo"} is_a: MONDO:0019292 {source="Orphanet:91135", source="Orphanet:91135/inferred"} ! dermis elastic tissue disorder relationship: disease_shares_features_of MONDO:0024308 ! pseudoxanthoma elasticum (inherited or acquired) property_value: exactMatch http://identifiers.org/mesh/C563654 property_value: exactMatch http://identifiers.org/snomedct/717941005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835813 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4049241 property_value: exactMatch https://omim.org/entry/610842 property_value: exactMatch Orphanet:91135 [Term] id: MONDO:0012574 name: Potocki-Lupski syndrome def: "17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated." [Orphanet:1713] subset: ordo_malformation_syndrome {source="Orphanet:1713"} synonym: "17p11.2 Duplication syndrome" EXACT [NCIT:C124846] synonym: "17p11.2 microduplication syndrome" EXACT [DOID:0060853] synonym: "chromosome 17P11.2 Duplication syndrome" RELATED [OMIM:610883] synonym: "chromosome 17p11.2 duplication syndrome" EXACT [DOID:0060853] synonym: "Duplication 17p11.2 syndrome" RELATED [GARD:0010145] synonym: "Potocki-Lupski syndrome" EXACT [MONDO:Lexical, OMIM:610883, Orphanet:1713] synonym: "Potocki-Lupski syndrome (dup(17)(p11.2p11.2))" RELATED [GARD:0010145] synonym: "Potocki-Lupski syndrome, Isolated cases" EXACT [OMIM:610883, OMIM:genemap2] synonym: "PTLS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610883] synonym: "trisomy 17p11.2" EXACT [DOID:0060853, Orphanet:1713] xref: DECIPHER:19 {source="MONDO:equivalentTo"} xref: DOID:0060853 {source="MONDO:equivalentTo"} xref: NCIT:C124846 {source="MONDO:equivalentTo"} xref: OMIM:610883 {source="Orphanet:1713/e", source="DOID:0060853", source="MONDO:equivalentTo", source="Orphanet:1713"} xref: Orphanet:1713 {source="OMIM:610883", source="DOID:0060853", source="MONDO:equivalentTo"} xref: SCTID:734016004 {source="MONDO:equivalentTo"} xref: UMLS:C2931246 {source="Orphanet:1713/e", source="DOID:0060853", source="MONDO:equivalentTo", source="Orphanet:1713"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C124846"} ! syndromic disease is_a: MONDO:0016950 {source="Orphanet:1713"} ! partial duplication of the short arm of chromosome 17 property_value: exactMatch DOID:0060853 property_value: exactMatch http://identifiers.org/snomedct/734016004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931246 property_value: exactMatch https://omim.org/entry/610883 property_value: exactMatch NCIT:C124846 property_value: exactMatch Orphanet:1713 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:1713"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0012580 name: hereditary pulmonary alveolar proteinosis def: "Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure." [Orphanet:264675] subset: gard_rare subset: ordo_disease {source="Orphanet:264675"} synonym: "congenital PAP" EXACT [GARD:0004582, Orphanet:264675] synonym: "congenital pulmonary alveolar proteinosis" EXACT [Orphanet:264675] synonym: "hereditary pulmonary alveolar proteinosis" EXACT [MONDO:patterns/hereditary] synonym: "inborn error of pulmonary surfactant metabolism" EXACT [MONDO:cjm] synonym: "pulmonary alveolar proteinosis, congenital" RELATED [GARD:0004582] synonym: "sufactant metabolism dysfunction, pulmonary" RELATED [OMIMPS:265120] xref: MESH:C535832 {source="MONDO:equivalentTo"} xref: OMIMPS:265120 {source="MONDO:equivalentTo"} xref: Orphanet:264675 {source="MONDO:equivalentTo", source="OMIM:610913", source="GARD:0004582"} xref: SCTID:707442002 {source="MONDO:equivalentTo"} xref: UMLS:C2931035 {source="MONDO:equivalentTo", source="Orphanet:264675", source="GARD:0004582", source="Orphanet:264675/e"} is_a: MONDO:0001437 {source="MESH:C535832", source="MONDO:Redundant", source="MONDO:cjm"} ! pulmonary alveolar proteinosis is_a: MONDO:0015133 {source="Orphanet:264675"} ! quantitative and/or qualitative congenital phagocyte defect intersection_of: MONDO:0001437 ! pulmonary alveolar proteinosis intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/mesh/C535832 property_value: exactMatch http://identifiers.org/snomedct/707442002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931035 property_value: exactMatch https://omim.org/phenotypicSeries/PS265120 property_value: exactMatch Orphanet:264675 [Term] id: MONDO:0012586 name: coronary artery disease, autosomal dominant 2 def: "Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene." [MONDO:patterns/disease_series_by_gene] synonym: "ADCAD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610947] synonym: "coronary artery disease caused by mutation in LRP6" EXACT [MONDO:design_pattern] synonym: "coronary artery disease, autosomal dominant 2" EXACT [MONDO:Lexical, OMIM:610947] synonym: "coronary artery disease, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:610947] synonym: "coronary artery disease, autosomal dominant, 2" EXACT [OMIM:610947, OMIM:genemap2] synonym: "LRP6 coronary artery disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MESH:C567045 {source="MONDO:equivalentTo"} xref: OMIM:610947 {source="MONDO:equivalentTo"} xref: UMLS:C1970440 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610947"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: EFO:0001645 {source="DC-OMIM:610947", source="MESH:C567045", source="MONDO:Redundant"} ! coronary artery disease property_value: exactMatch http://identifiers.org/mesh/C567045 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970440 property_value: exactMatch https://omim.org/entry/610947 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012588 name: neuronal ceroid lipofuscinosis 7 def: "Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." [https://rarediseases.info.nih.gov/diseases/1220/neuronal-ceroid-lipofuscinosis-7] subset: gard_rare {source="GARD:0001220"} subset: ordo_etiological_subtype {source="Orphanet:228366"} synonym: "ceroid lipofuscinosis, neuronal, 7" RELATED [MONDO:Lexical, OMIM:610951] synonym: "ceroid lipofuscinosis, neuronal, type 7" EXACT [MONDORULE:1, OMIM:610951] synonym: "CLN7" EXACT ABBREVIATION [DOID:0110722, MONDO:Lexical, OMIM:610951] synonym: "CLN7 disease" RELATED [GARD:0001220] synonym: "CLN7 disease, late infantile" RELATED [GARD:0001220] synonym: "MFSD8 neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "neuronal ceroid lipofuscinosis 7" EXACT [] synonym: "neuronal ceroid lipofuscinosis caused by mutation in MFSD8" EXACT [MONDO:design_pattern] synonym: "neuronal ceroid lipofuscinosis type 7" EXACT [DOID:0110722, MONDORULE:1] xref: DOID:0110722 {source="MONDO:equivalentTo"} xref: MESH:C563989 {source="MONDO:equivalentTo"} xref: OMIM:610951 {source="Orphanet:228366/e", source="DOID:0110722", source="MONDO:equivalentTo", source="Orphanet:228366"} xref: Orphanet:228366 {source="DOID:0110722", source="MONDO:equivalentTo", source="OMIM:610951"} is_a: MONDO:0015674 {source="Orphanet:228366"} ! late infantile neuronal ceroid lipofuscinosis is_a: MONDO:0016295 {source="DOID:0110722", source="MONDO:Redundant", source="OMIM:610951", source="Orphanet:228366/inferred"} ! neuronal ceroid lipofuscinosis property_value: exactMatch DOID:0110722 property_value: exactMatch http://identifiers.org/mesh/C563989 property_value: exactMatch https://omim.org/entry/610951 property_value: exactMatch Orphanet:228366 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1220/neuronal-ceroid-lipofuscinosis-7 xsd:anyURI {source="GARD:0001220"} [Term] id: MONDO:0012589 name: Pitt-Hopkins syndrome def: "Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing." [Orphanet:2896] subset: gard_rare {source="GARD:0004372"} subset: ordo_malformation_syndrome {source="Orphanet:2896"} synonym: "encephalopathy, Severe epileptic, with autonomic dysfunction" RELATED [OMIM:610954] synonym: "intellectual disability, Syndromal, with intermittent hyperventilation" RELATED [OMIM:610954] synonym: "intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea" RELATED [GARD:0004372] synonym: "mental retardation, Syndromal, with intermittent hyperventilation" RELATED DEPRECATED [OMIM:610954] synonym: "Pitt Hopkins syndrome" RELATED [GARD:0004372] synonym: "Pitt-Hopkins syndrome" EXACT [MONDO:Lexical, OMIM:610954] synonym: "PTHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610954] xref: DOID:0060488 {source="MONDO:equivalentTo"} xref: ICD9:758.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537403 {source="DOID:0060488", source="Orphanet:2896", source="MONDO:equivalentTo", source="Orphanet:2896/e"} xref: NCIT:C129872 {source="MONDO:equivalentTo"} xref: OMIM:610954 {source="DOID:0060488", source="Orphanet:2896", source="MONDO:equivalentTo", source="Orphanet:2896/e"} xref: Orphanet:2896 {source="DOID:0060488", source="MONDO:equivalentTo", source="OMIM:610954"} xref: SCTID:702344008 {source="DOID:0060488", source="MONDO:equivalentTo"} xref: UMLS:C1970431 {source="NCIT:C129872", source="DOID:0060488", source="Orphanet:2896", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2896/e", source="OMIM:610954"} is_a: MONDO:0002254 {source="DOID:0060488", source="MONDO:Redundant", source="NCIT:C129872"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:2896"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch DOID:0060488 property_value: exactMatch http://identifiers.org/mesh/C537403 property_value: exactMatch http://identifiers.org/snomedct/702344008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970431 property_value: exactMatch https://omim.org/entry/610954 property_value: exactMatch NCIT:C129872 property_value: exactMatch Orphanet:2896 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2896"} property_value: excluded_subClassOf MONDO:0015653 {source="Orphanet:2896"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4372/pitt-hopkins-syndrome xsd:anyURI {source="GARD:0004372"} [Term] id: MONDO:0012590 name: XFE progeroid syndrome def: "A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. It has material basis in homozygous mutation in the ERCC4 gene on chromosome 16p13." [DOID:0060590, PMID:17183314] subset: gard_rare {source="GARD:0010628"} synonym: "XFE progeroid syndrome" EXACT [MONDO:Lexical, OMIM:610965] synonym: "XFEPS" EXACT ABBREVIATION [DOID:0060590, MONDO:Lexical, OMIM:610965] synonym: "XPF-ERCC1 progeroid syndrome" EXACT [DOID:0060590, OMIM:610965] xref: DOID:0060590 {source="MONDO:equivalentTo"} xref: MESH:C567043 {source="MONDO:equivalentTo", source="DOID:0060590"} xref: NCIT:C173111 {source="MONDO:equivalentTo"} xref: OMIM:610965 {source="MONDO:equivalentTo", source="DOID:0060590"} xref: UMLS:C1970416 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610965"} is_a: EFO:0000508 {source="MESH:C567043/inferred"} ! genetic disorder is_a: MONDO:0002254 {source="DOID:0060590"} ! syndromic disease property_value: exactMatch DOID:0060590 property_value: exactMatch http://identifiers.org/mesh/C567043 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970416 property_value: exactMatch https://omim.org/entry/610965 property_value: exactMatch NCIT:C173111 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10628/xfe-progeroid-syndrome xsd:anyURI {source="GARD:0010628"} [Term] id: MONDO:0012591 name: osteogenesis imperfecta type 5 def: "Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI)." [Orphanet:216828] subset: ordo_clinical_subtype {source="Orphanet:216828"} synonym: "IFITM5 osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "OI type 5" EXACT [Orphanet:216828] synonym: "OI type V" RELATED [GARD:0008699] synonym: "OI with calcification in interosseous membranes" RELATED [GARD:0008699] synonym: "OI, type 5" RELATED [OMIM:610967] synonym: "OI5" EXACT ABBREVIATION [DOID:0110344, MONDO:Lexical, OMIM:610967] synonym: "osteogenesis imperfecta caused by mutation in IFITM5" EXACT [MONDO:design_pattern] synonym: "osteogenesis imperfecta type V" EXACT [DOID:0110344] synonym: "osteogenesis imperfecta, type 5" RELATED [OMIM:610967] synonym: "osteogenesis imperfecta, type V" RELATED [MONDO:Lexical, OMIM:610967] synonym: "type V OI" RELATED [GARD:0008699] xref: DOID:0110344 {source="MONDO:equivalentTo"} xref: MESH:C567042 {source="MONDO:equivalentTo"} xref: OMIM:610967 {source="MONDO:equivalentTo", source="Orphanet:216828", source="Orphanet:216828/e", source="DOID:0110344"} xref: Orphanet:216828 {source="MONDO:equivalentTo", source="OMIM:610967"} xref: UMLS:C1970414 {source="MONDO:equivalentObsolete", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:216828", source="OMIM:610967"} is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. property_value: exactMatch DOID:0110344 property_value: exactMatch http://identifiers.org/mesh/C567042 property_value: exactMatch https://omim.org/entry/610967 property_value: exactMatch Orphanet:216828 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0012593 name: brain-lung-thyroid syndrome def: "Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC)." [Orphanet:209905] subset: gard_rare {source="GARD:0012163"} subset: ordo_disease {source="Orphanet:209905"} synonym: "BLT syndrome" RELATED [GARD:0012163] synonym: "brain-lung-thyroid syndrome" EXACT [OMIM:610978] synonym: "CAHTP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610978] synonym: "choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction" RELATED [GARD:0012163, MONDO:Lexical, OMIM:610978] synonym: "choreoathetosis, hypothyroidism, and neonatal respiratory distress" EXACT [OMIM:610978, OMIM:genemap2] synonym: "choreoathetosis-hypothyroidism-neonatal respiratory distress" RELATED [GARD:0012163] synonym: "choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome" EXACT [Orphanet:209905] xref: MESH:C567034 {source="MONDO:equivalentTo"} xref: OMIM:610978 {source="Orphanet:209905", source="MONDO:equivalentTo", source="Orphanet:209905/e"} xref: Orphanet:209905 {source="MONDO:equivalentTo", source="OMIM:610978"} xref: SCTID:719098007 {source="MONDO:equivalentTo"} is_a: EFO:0004280 ! movement disorder is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015778 {source="Orphanet:209905"} ! syndromic hypothyroidism property_value: exactMatch http://identifiers.org/mesh/C567034 property_value: exactMatch http://identifiers.org/snomedct/719098007 property_value: exactMatch https://omim.org/entry/610978 property_value: exactMatch Orphanet:209905 property_value: excluded_subClassOf MONDO:0000508 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12163/brain-lung-thyroid-syndrome xsd:anyURI {source="GARD:0012163"} [Term] id: MONDO:0012594 name: complement factor I deficiency subset: ordo_disease {source="Orphanet:200418"} synonym: "C3 inactivator deficiency" EXACT [DOID:0050419] synonym: "CFID" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610984] synonym: "complement component 3 inactivator deficiency" EXACT [DOID:0050419, OMIM:610984] synonym: "complement Factor 1 deficiency" RELATED [OMIM:610984] synonym: "complement factor I deficiency" EXACT [MONDO:Lexical, OMIM:610984] synonym: "immunodeficiency with factor I anomaly" RELATED [Orphanet:200418] xref: DOID:0050419 {source="MONDO:equivalentTo"} xref: MESH:C572568 {source="MONDO:equivalentTo"} xref: OMIM:610984 {source="Orphanet:200418/e", source="MONDO:equivalentTo", source="Orphanet:200418", source="DOID:0050419"} xref: Orphanet:200418 {source="MONDO:equivalentTo", source="OMIM:610984"} xref: UMLS:C3463916 {source="MONDO:equivalentTo", source="OMIM:610984", source="Orphanet:200418"} is_a: MONDO:0003832 {source="DOID:0050419"} ! complement deficiency property_value: exactMatch DOID:0050419 property_value: exactMatch http://identifiers.org/mesh/C572568 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3463916 property_value: exactMatch https://omim.org/entry/610984 property_value: exactMatch Orphanet:200418 [Term] id: MONDO:0012596 name: PSAT deficiency def: "Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia." [Orphanet:284417] subset: ordo_disease {source="Orphanet:284417"} synonym: "phosphoserine aminotransferase deficiency" EXACT [DOID:0050723, MONDO:Lexical, OMIM:610992] synonym: "PSAT deficiency" EXACT [OMIM:610992, Orphanet:284417] synonym: "PSATD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610992] xref: DOID:0050723 {source="MONDO:equivalentTo"} xref: MESH:C567032 {source="MONDO:equivalentTo"} xref: OMIM:610992 {source="Orphanet:284417/e", source="MONDO:equivalentTo", source="DOID:0050723", source="Orphanet:284417"} xref: Orphanet:284417 {source="OMIM:610992", source="MONDO:equivalentTo"} xref: SCTID:718603002 {source="MONDO:equivalentTo"} xref: UMLS:C1970253 {source="OMIM:610992", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:284417"} is_a: MONDO:0018162 {source="Orphanet:284417"} ! neurometabolic disorder due to serine deficiency relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: exactMatch DOID:0050723 property_value: exactMatch http://identifiers.org/mesh/C567032 property_value: exactMatch http://identifiers.org/snomedct/718603002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970253 property_value: exactMatch https://omim.org/entry/610992 property_value: exactMatch Orphanet:284417 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:284417"} [Term] id: MONDO:0012605 name: isolated microphthalmia 5 def: "Any isolated microphthalmia in which the cause of the disease is a mutation in the MFRP gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:251279"} synonym: "isolated microphthalmia 5" EXACT [] synonym: "isolated microphthalmia caused by mutation in MFRP" EXACT [MONDO:design_pattern] synonym: "isolated microphthalmia type 5" EXACT [DOID:0060837, MONDORULE:1] synonym: "MCOP5" EXACT ABBREVIATION [DOID:0060837, MONDO:Lexical, OMIM:611040] synonym: "MFRP isolated microphthalmia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "microphthalmia, isolated 5" RELATED [MONDO:Lexical, OMIM:611040] synonym: "microphthalmia, isolated type 5" EXACT [MONDORULE:1, OMIM:611040] synonym: "microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic Disc drusen" RELATED [OMIM:611040] synonym: "microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome" EXACT OMO:0003005 [] synonym: "microphthalmia-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome" EXACT [DOID:0060837] synonym: "Nanophtalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome" EXACT OMO:0003005 [] synonym: "Nanophtalmos-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome" EXACT [Orphanet:251279] synonym: "posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen" EXACT OMO:0003005 [] synonym: "posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disk drusen" EXACT [DOID:0060837] xref: DOID:0060837 {source="MONDO:equivalentTo"} xref: MESH:C567024 {source="MONDO:equivalentTo"} xref: OMIM:611040 {source="MONDO:equivalentTo", source="Orphanet:251279", source="DOID:0060837", source="Orphanet:251279/e"} xref: Orphanet:251279 {source="MONDO:equivalentTo", source="DOID:0060837", source="OMIM:611040"} xref: UMLS:C1970236 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:251279", source="OMIM:611040"} is_a: MONDO:0000062 {source="DC-OMIM:611040", source="MONDO:Redundant", source="OMIM:611040"} ! isolated microphthalmia property_value: exactMatch DOID:0060837 property_value: exactMatch http://identifiers.org/mesh/C567024 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970236 property_value: exactMatch https://omim.org/entry/611040 property_value: exactMatch Orphanet:251279 [Term] id: MONDO:0012608 name: autosomal recessive lower motor neuron disease with childhood onset def: "A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported." [Orphanet:206580] subset: ordo_disease {source="Orphanet:206580"} synonym: "autosomal recessive distal spinal muscular atrophy type 4" EXACT [Orphanet:206580] synonym: "distal spinal muscular atrophy type 4" EXACT [Orphanet:206580] synonym: "DSMA4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611067] synonym: "dSMA4" EXACT [Orphanet:206580] synonym: "spinal muscular atrophy, distal, autosomal recessive, 4" RELATED [MONDO:Lexical, OMIM:611067] synonym: "spinal muscular atrophy, distal, autosomal recessive, type 4" EXACT [MONDORULE:1, OMIM:611067] xref: DOID:0111213 {source="MONDO:equivalentTo"} xref: MESH:C567023 {source="MONDO:equivalentTo"} xref: OMIM:611067 {source="MONDO:equivalentTo", source="Orphanet:206580", source="Orphanet:206580/e"} xref: Orphanet:206580 {source="OMIM:611067", source="MONDO:equivalentTo"} xref: UMLS:C1970211 {source="OMIM:611067", source="MONDO:equivalentTo", source="Orphanet:206580", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0016116 {source="Orphanet:206580"} ! generalized bulbospinal muscular atrophy property_value: exactMatch DOID:0111213 property_value: exactMatch http://identifiers.org/mesh/C567023 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970211 property_value: exactMatch https://omim.org/entry/611067 property_value: exactMatch Orphanet:206580 [Term] id: MONDO:0012611 name: polyhydramnios, megalencephaly, and symptomatic epilepsy subset: ordo_disease synonym: "PMSE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611087] synonym: "PMSE syndrome" EXACT [OMIM:611087, Orphanet:500533] synonym: "polyhydramnios, megalencephaly, and symptomatic epilepsy" EXACT [MONDO:Lexical, OMIM:611087] synonym: "polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome" RELATED [GARD:0012913] synonym: "polyhydramnios-megalencephaly-symptomatic epilepsy syndrome" RELATED [Orphanet:500533] synonym: "pretzel syndrome" RELATED [GARD:0012913] xref: MESH:C567020 {source="MONDO:equivalentTo"} xref: OMIM:611087 {source="Orphanet:500533", source="MONDO:equivalentTo"} xref: Orphanet:500533 {source="MONDO:equivalentTo"} xref: UMLS:C1970203 {source="OMIM:611087", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015653 {source="Orphanet:500533"} ! monogenic epilepsy property_value: exactMatch http://identifiers.org/mesh/C567020 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970203 property_value: exactMatch https://omim.org/entry/611087 property_value: exactMatch Orphanet:500533 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:500533"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0012621 name: deafness-infertility syndrome def: "Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility." [Orphanet:94064] subset: gard_rare {source="GARD:0011911"} subset: ordo_malformation_syndrome {source="Orphanet:94064"} synonym: "chromosome 15Q15.3 deletion syndrome" RELATED [OMIM:611102] synonym: "deafness and male infertility" EXACT [OMIM:611102, OMIM:genemap2] synonym: "deafness, sensorineural, and Male infertility" RELATED [OMIM:611102] synonym: "deafness-infertility syndrome" EXACT [MONDO:Lexical, OMIM:611102] synonym: "dis" EXACT [MONDO:Lexical, OMIM:611102, Orphanet:94064] synonym: "sensorineural deafness and male infertility" RELATED [GARD:0011911] xref: ICD9:758.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C567010 {source="MONDO:equivalentTo"} xref: OMIM:611102 {source="Orphanet:94064/e", source="MONDO:equivalentTo", source="Orphanet:94064"} xref: Orphanet:94064 {source="OMIM:611102", source="MONDO:equivalentTo"} xref: SCTID:700489002 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0016913 {source="Orphanet:94064"} ! partial deletion of the long arm of chromosome 15 property_value: exactMatch http://identifiers.org/mesh/C567010 property_value: exactMatch http://identifiers.org/snomedct/700489002 property_value: exactMatch https://omim.org/entry/611102 property_value: exactMatch Orphanet:94064 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11911/deafness-infertility-syndrome xsd:anyURI {source="GARD:0011911"} [Term] id: MONDO:0012622 name: leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome def: "This disease is characterized by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter." [Orphanet:137898] subset: ordo_disease {source="Orphanet:137898"} synonym: "LBSL" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611105, Orphanet:137898] synonym: "leukoencephalopathy with brain stem and spinal cord involvement - high lactate" RELATED [GARD:0012652] synonym: "leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation" RELATED [GARD:0012652] synonym: "leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation" RELATED [GARD:0012652] synonym: "leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome" EXACT [] synonym: "leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome" EXACT [Orphanet:137898] synonym: "leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation" RELATED [MONDO:Lexical, OMIM:611105] synonym: "mitochondrial aspartyl-tRNA synthetase deficiency" RELATED [OMIM:611105] xref: MESH:C567009 {source="MONDO:equivalentTo"} xref: OMIM:611105 {source="Orphanet:137898", source="MONDO:equivalentTo", source="Orphanet:137898/e"} xref: Orphanet:137898 {source="MONDO:equivalentTo", source="OMIM:611105"} xref: SCTID:703537008 {source="MONDO:equivalentTo"} is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0019046 {source="Orphanet:137898"} ! leukodystrophy property_value: exactMatch http://identifiers.org/mesh/C567009 property_value: exactMatch http://identifiers.org/snomedct/703537008 property_value: exactMatch https://omim.org/entry/611105 property_value: exactMatch Orphanet:137898 [Term] id: MONDO:0012624 name: acyl-CoA dehydrogenase 9 deficiency def: "A rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy." [Orphanet:99901] subset: ordo_disease {source="Orphanet:99901"} synonym: "ACAD9 deficiency" EXACT [OMIM:611126, Orphanet:99901] synonym: "acyl-CoA dehydrogenase 9 deficiency" EXACT [OMIM:611126] synonym: "mitochondrial complex I deficiency due to ACAD9 deficiency" EXACT [OMIM:611126] synonym: "mitochondrial complex I deficiency, nuclear type 20" EXACT [OMIM:611126, OMIM:genemap2] xref: DOID:0112072 {source="MONDO:equivalentTo"} xref: MESH:C567006 {source="MONDO:equivalentTo"} xref: OMIM:611126 {source="MONDO:equivalentTo", source="Orphanet:99901", source="Orphanet:99901/e"} xref: Orphanet:99901 {source="MONDO:equivalentTo", source="OMIM:611126"} xref: SCTID:725046003 {source="MONDO:equivalentTo"} xref: UMLS:C1970173 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:611126", source="Orphanet:99901"} is_a: MONDO:0017713 {source="https://orcid.org/0000-0001-5208-3432"} ! disorder of fatty acid oxidation and ketogenesis property_value: exactMatch DOID:0112072 property_value: exactMatch http://identifiers.org/mesh/C567006 property_value: exactMatch http://identifiers.org/snomedct/725046003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970173 property_value: exactMatch https://omim.org/entry/611126 property_value: exactMatch Orphanet:99901 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012634 name: craniofacial dysplasia - osteopenia syndrome subset: ordo_malformation_syndrome {source="Orphanet:314555"} synonym: "HAMAMY syndrome" RELATED [MONDO:Lexical, OMIM:611174] synonym: "Hamamy syndrome" EXACT [Orphanet:314555] synonym: "HMMS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611174] synonym: "hypertelorism, Severe, with midface prominence, myopia, intellectual disability, and bone fragility" RELATED [OMIM:611174] synonym: "hypertelorism, Severe, with midface prominence, myopia, mental retardation, and bone fragility" RELATED DEPRECATED [OMIM:611174] xref: MESH:C566988 {source="MONDO:equivalentTo"} xref: OMIM:611174 {source="Orphanet:314555", source="MONDO:equivalentTo", source="Orphanet:314555/e"} xref: Orphanet:314555 {source="MONDO:equivalentTo", source="OMIM:611174"} xref: UMLS:C1970027 {source="Orphanet:314555", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:611174"} is_a: MONDO:0020018 {source="Orphanet:314555"} ! cranial malformation relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C566988 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970027 property_value: exactMatch https://omim.org/entry/611174 property_value: exactMatch Orphanet:314555 [Term] id: MONDO:0012635 name: COG8-congenital disorder of glycosylation def: "The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterized by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products." [Orphanet:95428] subset: ordo_disease {source="Orphanet:95428"} synonym: "carbohydrate deficient glycoprotein syndrome type IIh" EXACT [Orphanet:95428] synonym: "CDG IIh" RELATED [OMIM:611182] synonym: "CDG syndrome type IIh" EXACT [Orphanet:95428] synonym: "CDG-IIh" EXACT [Orphanet:95428] synonym: "CDG2H" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611182, Orphanet:95428] synonym: "COG8-CDG" EXACT ABBREVIATION [Orphanet:95428] synonym: "COG8-CDG (CDG-IIh)" RELATED [GARD:0012411] synonym: "COG8-congenital disorder of glycosylation" EXACT [] synonym: "congenital disorder of glycosylation type 2h" EXACT [Orphanet:95428] synonym: "congenital disorder of glycosylation type IIh" EXACT [Orphanet:95428] synonym: "congenital disorder of glycosylation, type IIh" RELATED [MONDO:Lexical, OMIM:611182] xref: DOID:0070260 {source="MONDO:equivalentTo"} xref: MESH:C566987 {source="MONDO:equivalentTo"} xref: OMIM:611182 {source="Orphanet:95428/e", source="MONDO:equivalentTo", source="Orphanet:95428"} xref: Orphanet:95428 {source="MONDO:equivalentTo", source="OMIM:611182"} xref: SCTID:717774004 {source="MONDO:equivalentTo"} xref: UMLS:C1970021 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:95428", source="OMIM:611182"} is_a: EFO:0005546 {source="DC-OMIM:611182", source="OMIM:611182"} ! congenital disorder of glycosylation type II is_a: MONDO:0017750 {source="Orphanet:95428"} ! defect in conserved oligomeric Golgi complex property_value: exactMatch DOID:0070260 property_value: exactMatch http://identifiers.org/mesh/C566987 property_value: exactMatch http://identifiers.org/snomedct/717774004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970021 property_value: exactMatch https://omim.org/entry/611182 property_value: exactMatch Orphanet:95428 [Term] id: MONDO:0012637 name: COG1-congenital disorder of glycosylation def: "COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism." [Orphanet:263508] subset: ordo_disease {source="Orphanet:263508"} synonym: "carbohydrate deficient glycoprotein syndrome type IIg" EXACT [Orphanet:263508] synonym: "CDG 2G" RELATED [GARD:0010226] synonym: "CDG IIg" RELATED [OMIM:611209] synonym: "CDG syndrome type IIg" EXACT [Orphanet:263508] synonym: "CDG-IIg" EXACT [Orphanet:263508] synonym: "CDG2G" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611209, Orphanet:263508] synonym: "Cdgii/Cog1 Cerebrocostomandibular-like syndrome" RELATED [OMIM:611209] synonym: "COG1-CDG" EXACT ABBREVIATION [Orphanet:263508] synonym: "COG1-CDG (CDG-IIg)" RELATED [GARD:0010226] synonym: "COG1-congenital disorder of glycosylation" EXACT [] synonym: "congenital disorder of glycosylation type 2g" EXACT [Orphanet:263508] synonym: "congenital disorder of glycosylation type IIg" EXACT [Orphanet:263508] synonym: "congenital disorder of glycosylation, type IIg" RELATED [MONDO:Lexical, OMIM:611209] xref: DOID:0070259 {source="MONDO:equivalentTo"} xref: MESH:C535756 {source="MONDO:equivalentTo"} xref: OMIM:611209 {source="Orphanet:263508", source="MONDO:equivalentTo", source="Orphanet:263508/e"} xref: Orphanet:263508 {source="MONDO:equivalentTo", source="OMIM:611209"} xref: SCTID:718750004 {source="MONDO:equivalentTo"} is_a: EFO:0003777 {source="MONDO:0018290-obsoleted"} ! heart disease is_a: EFO:0005546 {source="DC-OMIM:611209", source="OMIM:611209"} ! congenital disorder of glycosylation type II is_a: MONDO:0017750 {source="Orphanet:263508"} ! defect in conserved oligomeric Golgi complex is_a: MONDO:0018292 {source="Orphanet:263508"} ! congenital disorder of glycosylation-related bone disorder is_a: MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin property_value: exactMatch DOID:0070259 property_value: exactMatch http://identifiers.org/mesh/C535756 property_value: exactMatch http://identifiers.org/snomedct/718750004 property_value: exactMatch https://omim.org/entry/611209 property_value: exactMatch Orphanet:263508 [Term] id: MONDO:0012638 name: microphthalmia-brain atrophy syndrome def: "Microphthalmia-brain atrophy (MOBA) syndrome is a rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter." [Orphanet:77299] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:77299"} synonym: "MCOPS10" EXACT ABBREVIATION [GARD:0009292, MONDO:Lexical, OMIM:611222, Orphanet:77299] synonym: "microphthalmia and brain atrophy" RELATED [GARD:0009292, OMIM:611222] synonym: "microphthalmia syndromic 10" RELATED [GARD:0009292] synonym: "microphthalmia, syndromic 10" RELATED [MONDO:Lexical, OMIM:611222] synonym: "MOBA" RELATED ABBREVIATION [GARD:0009292] synonym: "MOBA syndrome" EXACT [Orphanet:77299] synonym: "syndromic microphthalmia type 10" EXACT [Orphanet:77299] xref: DOID:0111812 {source="MONDO:equivalentTo"} xref: MESH:C566985 {source="MONDO:equivalentTo"} xref: OMIM:611222 {source="GARD:0009292", source="Orphanet:77299/e", source="MONDO:equivalentTo", source="Orphanet:77299"} xref: Orphanet:77299 {source="GARD:0009292", source="OMIM:611222", source="MONDO:equivalentTo"} xref: SCTID:720010009 {source="MONDO:equivalentTo"} is_a: MONDO:0004884 ! eye degenerative disorder is_a: MONDO:0016073 {source="DC-OMIM:611222", source="OMIM:611222", source="Orphanet:77299"} ! syndromic microphthalmia is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:77299"} ! inherited neurodegenerative disorder property_value: exactMatch DOID:0111812 property_value: exactMatch http://identifiers.org/mesh/C566985 property_value: exactMatch http://identifiers.org/snomedct/720010009 property_value: exactMatch https://omim.org/entry/611222 property_value: exactMatch Orphanet:77299 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:77299"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9292/microphthalmia-syndromic-10 xsd:anyURI {source="GARD:0009292"} [Term] id: MONDO:0012639 name: hereditary spastic paraplegia 18 def: "A rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2." [Orphanet:209951] subset: ordo_disease {source="Orphanet:209951"} synonym: "autosomal recessive complex spastic paraplegia caused by mutation in ERLIN2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 18" EXACT [DOID:0110771] synonym: "autosomal recessive spastic paraplegia type 18" EXACT [DOID:0110771] synonym: "ERLIN2 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary spastic paraplegia type 18" EXACT [DOID:0110771, MONDORULE:2] synonym: "intellectual disability, motor dysfunction and joint contractures" EXACT [DOID:0110771] synonym: "intellectual disability, motor dysfunction, and Joint contractures" RELATED [OMIM:611225] synonym: "spastic paraplegia 18" RELATED [GARD:0004922] synonym: "spastic paraplegia 18, autosomal recessive" RELATED [MONDO:Lexical, OMIM:611225] synonym: "SPG18" EXACT ABBREVIATION [DOID:0110771, MONDO:Lexical, OMIM:611225, Orphanet:209951] xref: DOID:0110771 {source="MONDO:equivalentTo"} xref: MESH:C567628 {source="MONDO:equivalentTo"} xref: OMIM:611225 {source="Orphanet:209951/e", source="MONDO:equivalentTo", source="DOID:0110771", source="Orphanet:209951"} xref: Orphanet:209951 {source="MONDO:equivalentTo", source="OMIM:611225", source="DOID:0110771"} xref: SCTID:732932004 {source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="MONDO:Redundant", source="Orphanet:209951"} ! autosomal recessive complex spastic paraplegia property_value: exactMatch DOID:0110771 property_value: exactMatch http://identifiers.org/mesh/C567628 property_value: exactMatch http://identifiers.org/snomedct/732932004 property_value: exactMatch https://omim.org/entry/611225 property_value: exactMatch Orphanet:209951 [Term] id: MONDO:0012640 name: Charcot-Marie-Tooth disease type 4J def: "Charcot-Marie-Tooth disease, type 4J (CMT4J) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." [Orphanet:139515] subset: gard_rare {source="GARD:0012443"} subset: ordo_disease {source="Orphanet:139515"} synonym: "autosomal recessive Charcot-Marie-Tooth disease type 4J" EXACT [DOID:0110184] synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in FIG4" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, autosomal recessive, type 4J" RELATED [OMIM:611228] synonym: "Charcot-Marie-Tooth disease, type 4J" RELATED [GARD:0012443, MONDO:Lexical, OMIM:611228] synonym: "CMT4J" EXACT ABBREVIATION [DOID:0110184, MONDO:Lexical, OMIM:611228, Orphanet:139515] synonym: "FIG4 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110184 {source="MONDO:equivalentTo"} xref: MESH:C566984 {source="MONDO:equivalentTo"} xref: NCIT:C134954 {source="MONDO:equivalentTo"} xref: OMIM:611228 {source="Orphanet:139515", source="MONDO:equivalentTo", source="DOID:0110184", source="Orphanet:139515/e"} xref: Orphanet:139515 {source="MONDO:equivalentTo", source="OMIM:611228", source="DOID:0110184"} xref: SCTID:720638000 {source="MONDO:equivalentTo"} xref: UMLS:C1970011 {source="Orphanet:139515", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:611228", source="NCIT:C134954"} is_a: MONDO:0018995 {source="DOID:0110184", source="MONDO:Redundant", source="Orphanet:139515"} ! Charcot-Marie-Tooth disease type 4 property_value: exactMatch DOID:0110184 property_value: exactMatch http://identifiers.org/mesh/C566984 property_value: exactMatch http://identifiers.org/snomedct/720638000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970011 property_value: exactMatch https://omim.org/entry/611228 property_value: exactMatch NCIT:C134954 property_value: exactMatch Orphanet:139515 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12443/charcot-marie-tooth-disease-type-4j xsd:anyURI {source="GARD:0012443"} [Term] id: MONDO:0012643 name: hereditary spastic paraplegia 32 def: "Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21." [Orphanet:171622] subset: ordo_disease {source="Orphanet:171622"} synonym: "autosomal recessive spastic paraplegia 32" EXACT [DOID:0110783] synonym: "autosomal recessive spastic paraplegia type 32" EXACT [DOID:0110783] synonym: "hereditary spastic paraplegia type 32" EXACT [DOID:0110783, MONDORULE:2] synonym: "spastic paraplegia 32" RELATED [GARD:0012749] synonym: "spastic paraplegia 32, autosomal recessive" RELATED [MONDO:Lexical, OMIM:611252] synonym: "SPG32" EXACT ABBREVIATION [DOID:0110783, MONDO:Lexical, OMIM:611252, Orphanet:171622] xref: DOID:0110783 {source="MONDO:equivalentTo"} xref: MESH:C566983 {source="MONDO:equivalentTo"} xref: OMIM:611252 {source="Orphanet:171622/e", source="MONDO:equivalentTo", source="DOID:0110783", source="Orphanet:171622"} xref: Orphanet:171622 {source="OMIM:611252", source="MONDO:equivalentTo", source="DOID:0110783"} xref: SCTID:726606003 {source="MONDO:equivalentTo"} xref: UMLS:C1970009 {source="OMIM:611252", source="Orphanet:171622/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:171622"} xref: UMLS:C4511958 {source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:171622"} ! autosomal recessive complex spastic paraplegia property_value: exactMatch DOID:0110783 property_value: exactMatch http://identifiers.org/mesh/C566983 property_value: exactMatch http://identifiers.org/snomedct/726606003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4511958 property_value: exactMatch https://omim.org/entry/611252 property_value: exactMatch Orphanet:171622 [Term] id: MONDO:0012648 name: isobutyryl-CoA dehydrogenase deficiency def: "An inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25)." [Orphanet:79159] subset: gard_rare {source="GARD:0010223"} subset: ordo_disease {source="Orphanet:79159"} synonym: "Acad8 deficiency" RELATED [OMIM:611283] synonym: "acyl-Coa dehydrogenase family, member 8, deficiency of" RELATED [OMIM:611283] synonym: "acyl-CoaA dehydrogenase family, member 8, deficiency of" RELATED [GARD:0010223] synonym: "IBD deficiency" RELATED [OMIM:611283] synonym: "isobutyric aciduria" EXACT [Orphanet:79159] synonym: "isobutyryl-CoA dehydrogenase deficiency" EXACT [OMIM:611283] xref: MESH:C535541 {source="Orphanet:79159/e", source="MONDO:equivalentTo", source="Orphanet:79159"} xref: NCIT:C129975 {source="MONDO:equivalentTo"} xref: OMIM:611283 {source="Orphanet:79159/e", source="MONDO:equivalentTo", source="Orphanet:79159"} xref: Orphanet:79159 {source="MONDO:equivalentTo", source="OMIM:611283"} xref: UMLS:C1969809 {source="Orphanet:79159/e", source="MONDO:equivalentTo", source="NCIT:C129975", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:79159", source="OMIM:611283"} is_a: MONDO:0019215 {source="Orphanet:79159"} ! classic organic aciduria property_value: exactMatch http://identifiers.org/mesh/C535541 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969809 property_value: exactMatch https://omim.org/entry/611283 property_value: exactMatch NCIT:C129975 property_value: exactMatch Orphanet:79159 property_value: excluded_subClassOf MONDO:0016337 {source="Orphanet:79159"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/324 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10223/isobutyryl-coa-dehydrogenase-deficiency xsd:anyURI {source="GARD:0010223"} [Term] id: MONDO:0012650 name: Cernunnos-XLF deficiency def: "Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia." [Orphanet:169079] subset: ordo_disease {source="Orphanet:169079"} synonym: "Cernunnos deficiency" EXACT [Orphanet:169079] synonym: "Cernunnos XLFD" EXACT [Orphanet:169079] synonym: "Cernunnos-XLF deficiency" EXACT [] synonym: "combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionising radiation syndrome" EXACT OMO:0003005 [] synonym: "combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome" EXACT [Orphanet:169079] synonym: "NHEJ1 deficiency" EXACT [Orphanet:169079] synonym: "Nhej1 syndrome" RELATED [OMIM:611291] synonym: "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, and sensitivity to ionising radiation due to Nhej1 deficiency" RELATED OMO:0003005 [] synonym: "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, and sensitivity to ionizing radiation due to Nhej1 deficiency" RELATED [OMIM:611291] synonym: "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with microcephaly, Growth retardation, and sensitivity to ionising radiation" RELATED OMO:0003005 [] synonym: "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with microcephaly, Growth retardation, and sensitivity to ionizing radiation" RELATED [OMIM:611291] synonym: "severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionising radiation" RELATED OMO:0003005 [] synonym: "severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation" RELATED [OMIM:611291] synonym: "severe combined immunodeficiency with sensitivity to ionising radiation due to Nhej1 deficiency" RELATED OMO:0003005 [] synonym: "severe combined immunodeficiency with sensitivity to ionizing radiation due to Nhej1 deficiency" RELATED [OMIM:611291] xref: MESH:C566970 {source="MONDO:equivalentTo"} xref: OMIM:611291 {source="Orphanet:169079", source="MONDO:equivalentTo", source="Orphanet:169079/e"} xref: Orphanet:169079 {source="MONDO:equivalentTo", source="OMIM:611291"} xref: SCTID:720853005 {source="MONDO:equivalentTo"} xref: UMLS:C1969799 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:611291"} is_a: MONDO:0017855 {source="PMID:31953710"} ! T-B- severe combined immunodeficiency is_a: MONDO:0031520 {source="OMIM:611291"} ! familial severe combined immunodeficiency property_value: exactMatch http://identifiers.org/mesh/C566970 property_value: exactMatch http://identifiers.org/snomedct/720853005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969799 property_value: exactMatch https://omim.org/entry/611291 property_value: exactMatch Orphanet:169079 property_value: excluded_subClassOf MONDO:0018814 {source="Orphanet:169079"} [Term] id: MONDO:0012651 name: spastic ataxia 2 def: "Autosomal recessive spastic paraplegia type 58 is a rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs." [Orphanet:397946] subset: ordo_disease {source="Orphanet:397946"} synonym: "autosomal recessive spastic ataxia type 2" EXACT [Orphanet:397946] synonym: "autosomal recessive spastic paraplegia type 58" RELATED [Orphanet:397946] synonym: "KIF1C spastic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "spastic ataxia 2" EXACT [] synonym: "spastic ataxia 2, autosomal recessive" RELATED [MONDO:Lexical, OMIM:611302] synonym: "spastic ataxia caused by mutation in KIF1C" EXACT [MONDO:design_pattern] synonym: "spastic ataxia type 2" EXACT [DOID:0050941, MONDORULE:1] synonym: "SPAX2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611302, Orphanet:397946] synonym: "SPG58" EXACT ABBREVIATION [Orphanet:397946] xref: DOID:0050941 {source="MONDO:equivalentTo"} xref: MESH:C566969 {source="MONDO:equivalentTo"} xref: OMIM:611302 {source="Orphanet:397946/e", source="MONDO:equivalentTo", source="DOID:0050941", source="Orphanet:397946"} xref: Orphanet:397946 {source="MONDO:equivalentTo", source="OMIM:611302"} xref: UMLS:C1969796 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:611302"} is_a: MONDO:0015089 {source="Orphanet:397946"} ! autosomal recessive complex spastic paraplegia is_a: MONDO:0017847 ! autosomal recessive spastic ataxia property_value: exactMatch DOID:0050941 property_value: exactMatch http://identifiers.org/mesh/C566969 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969796 property_value: exactMatch https://omim.org/entry/611302 property_value: exactMatch Orphanet:397946 [Term] id: MONDO:0012652 name: autosomal recessive limb-girdle muscular dystrophy type 2L def: "A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood." [Orphanet:206549] subset: ordo_disease {source="Orphanet:206549"} synonym: "ANO5 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in ANO5" EXACT [MONDO:design_pattern] synonym: "LGMD2L" EXACT ABBREVIATION [DOID:0110284, MONDO:Lexical, OMIM:611307, Orphanet:206549] synonym: "limb-girdle muscular dystrophy type 2L" RELATED [GARD:0012536] synonym: "muscular dystrophy, limb-girdle, autosomal recessive 12" EXACT [OMIM:611307, OMIM:genemap2] synonym: "muscular dystrophy, limb-girdle, type 2L" EXACT [DOID:0110284, MONDO:Lexical, OMIM:611307] xref: DOID:0110284 {source="MONDO:equivalentTo"} xref: MESH:C566968 {source="MONDO:equivalentTo"} xref: OMIM:611307 {source="Orphanet:206549", source="MONDO:equivalentTo", source="DOID:0110284", source="Orphanet:206549/e"} xref: Orphanet:206549 {source="MONDO:equivalentTo", source="DOID:0110284", source="OMIM:611307"} xref: UMLS:C1969785 {source="Orphanet:206549", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:611307"} is_a: MONDO:0015152 {source="DOID:0110284", source="MONDO:Redundant", source="OMIM:611307", source="Orphanet:206549"} ! autosomal recessive limb-girdle muscular dystrophy property_value: exactMatch DOID:0110284 property_value: exactMatch http://identifiers.org/mesh/C566968 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969785 property_value: exactMatch https://omim.org/entry/611307 property_value: exactMatch Orphanet:206549 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012656 name: lethal congenital contracture syndrome 3 def: "Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement." [Orphanet:137783] subset: gard_rare {source="GARD:0012644"} subset: ordo_malformation_syndrome {source="Orphanet:137783"} synonym: "Israeli Bedouin type B multiple contracture syndrome" EXACT [DOID:0060653] synonym: "LCCS3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611369, Orphanet:137783] synonym: "lethal congenital contractural syndrome 3" EXACT [OMIM:611369, OMIM:genemap2] synonym: "lethal congenital contracture syndrome 3" EXACT [MONDO:Lexical, OMIM:611369] synonym: "lethal congenital contracture syndrome caused by mutation in PIP5K1C" EXACT [MONDO:design_pattern] synonym: "lethal congenital contracture syndrome type 3" EXACT [DOID:0060653, MONDORULE:1, OMIM:611369] synonym: "multiple contracture syndrome, Israeli Bedouin type B" RELATED [OMIM:611369] synonym: "PIP5K1C lethal congenital contracture syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060653 {source="MONDO:equivalentTo"} xref: MESH:C566961 {source="MONDO:equivalentTo"} xref: OMIM:611369 {source="Orphanet:137783/e", source="MONDO:equivalentTo", source="Orphanet:137783"} xref: Orphanet:137783 {source="DOID:0060653", source="MONDO:equivalentTo", source="OMIM:611369"} xref: SCTID:715420005 {source="MONDO:equivalentTo"} xref: UMLS:C1969655 {source="MONDO:equivalentTo", source="OMIM:611369", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:137783"} xref: UMLS:C4275144 {source="MONDO:equivalentTo"} is_a: MONDO:0015161 {source="Orphanet:137783"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0017436 {source="DC-OMIM:611369", source="DOID:0060653", source="MONDO:Redundant", source="OMIM:611369", source="Orphanet:137783"} ! lethal congenital contracture syndrome property_value: exactMatch DOID:0060653 property_value: exactMatch http://identifiers.org/mesh/C566961 property_value: exactMatch http://identifiers.org/snomedct/715420005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969655 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275144 property_value: exactMatch https://omim.org/entry/611369 property_value: exactMatch Orphanet:137783 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12644/lethal-congenital-contracture-syndrome-3 xsd:anyURI {source="GARD:0012644"} [Term] id: MONDO:0012657 name: Mungan syndrome synonym: "MGS" EXACT ABBREVIATION [OMIM:611376] synonym: "MUNGAN syndrome" EXACT [MONDO:Lexical, OMIM:611376] synonym: "pseudoobstruction chronic idiopathic intestinal with Barrett esophagus and cardiac abnormalities" RELATED [GARD:0010687] synonym: "pseudoobstruction chronic idiopathic intestinal with Barrett oesophagus and cardiac abnormalities" RELATED OMO:0003005 [] synonym: "pseudoobstruction, chronic idiopathic intestinal, with Barrett esophagus and Cardiac abnormalities" RELATED [OMIM:611376] synonym: "pseudoobstruction, chronic idiopathic intestinal, with Barrett oesophagus and Cardiac abnormalities" RELATED OMO:0003005 [] synonym: "visceral neuromyopathy familial with pseudoobstruction megaduodenum Barrett esophagus and cardiac abnormalities" RELATED [GARD:0010687] synonym: "visceral neuromyopathy familial with pseudoobstruction megaduodenum Barrett oesophagus and cardiac abnormalities" RELATED OMO:0003005 [] synonym: "visceral Neuromyopathy, familial, with pseudoobstruction, Megaduodenum, Barrett esophagus, and Cardiac abnormalities" RELATED [OMIM:611376] xref: MESH:C548078 {source="MONDO:equivalentTo"} xref: OMIM:611376 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C548078 property_value: exactMatch https://omim.org/entry/611376 [Term] id: MONDO:0012658 name: brachydactyly type B2 def: "Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness." [Orphanet:140908] subset: ordo_malformation_syndrome {source="Orphanet:140908"} synonym: "BDB2" EXACT ABBREVIATION [DOID:0110975, MONDO:Lexical, OMIM:611377] synonym: "brachydactyly, type B2" RELATED [MONDO:Lexical, OMIM:611377] xref: DOID:0110975 {source="MONDO:equivalentTo"} xref: OMIM:611377 {source="DOID:0110975", source="MONDO:equivalentTo", source="Orphanet:140908", source="Orphanet:140908/e"} xref: Orphanet:140908 {source="DOID:0110975", source="OMIM:611377", source="MONDO:equivalentTo"} xref: SCTID:770406002 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5493-2602"} xref: UMLS:C1969652 {source="OMIM:611377", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:140908"} is_a: MONDO:0019676 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly type B is_a: MONDO:0100521 {source="PMID:21538686", source="https://orcid.org/0009-0009-9147-3105"} ! NOG-related symphalangism spectrum disorder is_a: MONDO:0800093 {source="PMID:31633310"} ! dysostosis with brachydactyly without extraskeletal manifestations property_value: exactMatch DOID:0110975 property_value: exactMatch http://identifiers.org/snomedct/770406002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969652 property_value: exactMatch https://omim.org/entry/611377 property_value: exactMatch Orphanet:140908 property_value: excluded_subClassOf MONDO:0019066 {source="Orphanet:140908", source="Orphanet:140908/inferred"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3709 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6338 xsd:string [Term] id: MONDO:0012662 name: Usher syndrome type 2D def: "Any Usher syndrome in which the cause of the disease is a mutation in the WHRN gene." [MONDO:patterns/disease_series_by_gene] synonym: "USH2D" EXACT ABBREVIATION [DOID:0110840, MONDO:Lexical, OMIM:611383] synonym: "Usher syndrome caused by mutation in WHRN" EXACT [MONDO:design_pattern] synonym: "Usher syndrome type 2D" EXACT [] synonym: "Usher syndrome type IID" EXACT [DOID:0110840] synonym: "Usher syndrome, type 2D" RELATED [OMIM:611383] synonym: "USHER syndrome, type IID" RELATED [MONDO:Lexical, OMIM:611383] synonym: "WHRN Usher syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110840 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110840"} xref: OMIM:611383 {source="MONDO:equivalentTo", source="DOID:0110840"} is_a: MONDO:0016484 {source="DOID:0110840"} ! Usher syndrome type 2 property_value: exactMatch DOID:0110840 property_value: exactMatch https://omim.org/entry/611383 [Term] id: MONDO:0012664 name: spastic ataxia 3 def: "Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MARS2 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:314603"} synonym: "ARSAL" EXACT ABBREVIATION [Orphanet:314603] synonym: "autosomal recessive spastic ataxia caused by mutation in MARS2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic ataxia type 3" EXACT [Orphanet:314603] synonym: "autosomal recessive spastic ataxia with leukoencephalopathy" RELATED [OMIM:611390] synonym: "MARS2 autosomal recessive spastic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "spastic ataxia 3, autosomal recessive" RELATED [MONDO:Lexical, OMIM:611390] synonym: "spastic ataxia type 3" EXACT [DOID:0050942, MONDORULE:1] synonym: "SPAX3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611390, Orphanet:314603] xref: DOID:0050942 {source="MONDO:equivalentTo"} xref: ICD10CM:G11.4 {source="Orphanet:314603/attributed", source="Orphanet:314603/ntbt", source="MONDO:relatedTo", source="Orphanet:314603"} xref: MESH:C566956 {source="MONDO:equivalentTo"} xref: OMIM:611390 {source="Orphanet:314603", source="DOID:0050942", source="MONDO:equivalentTo", source="Orphanet:314603/e"} xref: Orphanet:314603 {source="MONDO:equivalentTo", source="OMIM:611390"} xref: UMLS:C1969645 {source="Orphanet:314603", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:611390"} xref: UMLS:CN230089 {source="MONDO:equivalentTo"} is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0017847 {source="MONDO:Redundant", source="Orphanet:314603"} ! autosomal recessive spastic ataxia property_value: exactMatch DOID:0050942 property_value: exactMatch http://identifiers.org/mesh/C566956 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969645 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN230089 property_value: exactMatch https://omim.org/entry/611390 property_value: exactMatch Orphanet:314603 [Term] id: MONDO:0012665 name: cataract 33 def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the BFSP1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "BFSP1 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "cataract 33" EXACT [MONDO:Lexical, OMIM:611391] synonym: "cataract 33, cortical" RELATED [OMIM:611391] synonym: "cataract 33, multiple types" RELATED [OMIM:611391] synonym: "cataract type 33" EXACT [DOID:0110264, MONDORULE:2, OMIM:611391] synonym: "cortical cataract 33" NARROW [DOID:0110264] synonym: "CTRCT33" EXACT ABBREVIATION [DOID:0110264, MONDO:Lexical, OMIM:611391] synonym: "early-onset non-syndromic cataract caused by mutation in BFSP1" EXACT [MONDO:design_pattern] xref: DOID:0110264 {source="MONDO:equivalentTo"} xref: MESH:C566955 {source="MONDO:equivalentTo"} xref: OMIM:611391 {source="MONDO:equivalentTo", source="DOID:0110264"} xref: Orphanet:217046 {source="MONDO:equivalentObsolete", source="OMIM:611391"} xref: Orphanet:217052 {source="MONDO:equivalentObsolete", source="OMIM:611391"} xref: UMLS:C3808107 {source="MONDO:equivalentTo", source="OMIM:611391"} is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract property_value: exactMatch DOID:0110264 property_value: exactMatch http://identifiers.org/mesh/C566955 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808107 property_value: exactMatch https://omim.org/entry/611391 [Term] id: MONDO:0012669 name: Legius syndrome def: "Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple cafC)-au-lait macules with or without axillary or inguinal freckling." [Orphanet:137605] subset: gard_rare {source="GARD:0010714"} subset: ordo_malformation_syndrome {source="Orphanet:137605"} synonym: "Legius syndrome" EXACT [OMIM:611431] synonym: "neurofibromatosis 1-like syndrome" EXACT [Orphanet:137605] synonym: "neurofibromatosis type 1 like syndrome" RELATED [GARD:0010714] synonym: "neurofibromatosis type 1-like syndrome" RELATED [OMIM:611431] synonym: "NF1-like syndrome" EXACT [Orphanet:137605] xref: ICD9:709.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C548032 {source="MONDO:equivalentTo", source="Orphanet:137605", source="Orphanet:137605/e"} xref: NCIT:C176941 {source="MONDO:equivalentTo"} xref: OMIM:611431 {source="MONDO:equivalentTo", source="Orphanet:137605", source="Orphanet:137605/e"} xref: Orphanet:137605 {source="OMIM:611431", source="MONDO:equivalentTo"} xref: SCTID:703541007 {source="MONDO:equivalentTo"} xref: UMLS:C1969623 {source="OMIM:611431", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:137605", source="Orphanet:137605/e"} is_a: MONDO:0019289 {source="Orphanet:137605"} ! hyperpigmentation of the skin is_a: MONDO:0019755 ! developmental defect during embryogenesis is_a: MONDO:0020297 {source="https://orcid.org/0000-0001-6671-2252", source="https://orcid.org/0000-0001-7736-9672", source="https://orcid.org/0000-0001-8200-1733", source="https://orcid.org/0000-0001-9069-3901", source="https://orcid.org/0000-0002-0146-4881", source="https://orcid.org/0000-0002-2635-9172", source="https://orcid.org/0000-0002-2827-6880", source="https://orcid.org/0000-0002-5791-6891", source="https://orcid.org/0000-0002-6559-2858", source="https://orcid.org/0000-0003-1348-7738", source="https://orcid.org/0000-0003-1618-9269", source="https://orcid.org/0000-0003-1719-7228", source="https://orcid.org/0000-0003-2840-1511", source="https://orcid.org/0000-0003-2890-7483"} ! Noonan syndrome and Noonan-related syndrome is_a: MONDO:0100118 ! hereditary skin disorder property_value: exactMatch http://identifiers.org/mesh/C548032 property_value: exactMatch http://identifiers.org/snomedct/703541007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969623 property_value: exactMatch https://omim.org/entry/611431 property_value: exactMatch NCIT:C176941 property_value: exactMatch Orphanet:137605 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10714/legius-syndrome xsd:anyURI {source="GARD:0010714"} [Term] id: MONDO:0012670 name: autosomal recessive nonsyndromic hearing loss 63 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LRTOMT gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive deafness 63" NARROW [DOID:0110515] synonym: "autosomal recessive nonsyndromic deafness 63" NARROW [OMIM:611451] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in LRTOMT" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 63" NARROW [DOID:0110515, MONDORULE:2] synonym: "deafness, autosomal recessive 63" NARROW [MONDO:Lexical, OMIM:611451, OMIM:genemap2] synonym: "deafness, autosomal recessive type 63" NARROW [MONDORULE:2, OMIM:611451] synonym: "DFNB63" NARROW ABBREVIATION [DOID:0110515, MONDO:Lexical, OMIM:611451] synonym: "LRTOMT autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110515 {source="MONDO:equivalentTo"} xref: MESH:C566951 {source="MONDO:equivalentTo"} xref: OMIM:611451 {source="DOID:0110515", source="MONDO:equivalentTo"} xref: UMLS:C1969621 {source="OMIM:611451", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019588 {source="DC-OMIM:611451", source="DOID:0110515", source="MONDO:Redundant", source="OMIM:611451"} ! hearing loss, autosomal recessive property_value: exactMatch DOID:0110515 property_value: exactMatch http://identifiers.org/mesh/C566951 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969621 property_value: exactMatch https://omim.org/entry/611451 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/551 xsd:anyURI [Term] id: MONDO:0012675 name: corticosteroid-binding globulin deficiency def: "Corticosteroid-binding globulin deficiency is a genetic disorder characterized by extreme tiredness (fatigue), particularly after physical exertion, and low blood pressure (hypotension). Corticosteroid-binding globulin (CBG) is a protein primarily produced in the liver that attaches to cortisol, a hormone with numerous functions, including maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation.When cortisol is needed in the body, CBG delivers the cortisol where it is needed and releases it. Signs and symptoms of CBG deficiency vary. While some individuals may experience no symptoms, others are found to have a fatty liver and chronic pain. Some people with CBG deficiency also have chronic fatigue syndrome. CGB deficiency is caused by mutations in the SERPINA6 gene. The SERPINA6 gene is commonly also referred to as the CBG gene. Both autosomal dominant and autosomal recessive inheritance have been reported.While there is still no cure, treatment options will depend on the type and severity of symptoms present and may involve several specialists." [https://rarediseases.info.nih.gov/diseases/13101/corticosteroid-binding-globulin-deficiency] subset: gard_rare {source="GARD:0013101"} subset: ordo_disease {source="Orphanet:199247"} synonym: "CBG deficiency" EXACT [DOID:0090030] synonym: "Cbg deficiency" RELATED [OMIM:611489] synonym: "corticosteroid-binding globulin deficiency" EXACT [OMIM:611489] synonym: "corticosteroid-binding globulin, elevated" RELATED [OMIM:611489] synonym: "Transcortin deficiency" EXACT [OMIM:611489, Orphanet:199247] synonym: "transcortin deficiency" EXACT [DOID:0090030] xref: DOID:0090030 {source="MONDO:equivalentTo"} xref: OMIM:611489 {source="DOID:0090030", source="MONDO:equivalentTo", source="Orphanet:199247", source="Orphanet:199247/e"} xref: Orphanet:199247 {source="DOID:0090030", source="MONDO:equivalentTo", source="OMIM:611489"} xref: UMLS:C1852529 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:611489", source="Orphanet:199247"} is_a: EFO:0005539 {source="Orphanet:199247"} ! adrenal gland disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015971"} ! rare property_value: exactMatch DOID:0090030 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852529 property_value: exactMatch https://omim.org/entry/611489 property_value: exactMatch Orphanet:199247 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13101/corticosteroid-binding-globulin-deficiency xsd:anyURI {source="GARD:0013101"} [Term] id: MONDO:0012676 name: autosomal recessive osteopetrosis 4 def: "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the CLCN7 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0005993"} synonym: "autosomal recessive malignant osteopetrosis caused by mutation in CLCN7" EXACT [MONDO:design_pattern] synonym: "autosomal recessive osteopetrosis caused by mutation in CLCN7" EXACT [] synonym: "autosomal recessive osteopetrosis type 4" EXACT [DOID:0110944, MONDORULE:1] synonym: "CLCN7 autosomal recessive malignant osteopetrosis" EXACT [MONDO:design_pattern] synonym: "CLCN7 autosomal recessive osteopetrosis" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "infantile malignant osteopetrosis 2" EXACT [DOID:0110944] synonym: "OPTB4" EXACT ABBREVIATION [DOID:0110944, MONDO:Lexical, OMIM:611490] synonym: "osteopetrosis autosomal recessive 4" RELATED [GARD:0005993] synonym: "osteopetrosis infantile malignant 2" RELATED [GARD:0005993] synonym: "osteopetrosis, autosomal recessive 4" RELATED [MONDO:Lexical, OMIM:611490] synonym: "osteopetrosis, autosomal recessive type 4" EXACT [MONDORULE:1, OMIM:611490] synonym: "osteopetrosis, infantile malignant 2" RELATED [OMIM:611490] xref: DOID:0110944 {source="MONDO:equivalentTo"} xref: MESH:C566933 {source="MONDO:equivalentTo"} xref: OMIM:611490 {source="DOID:0110944", source="MONDO:equivalentTo"} is_a: MONDO:0019026 {source="MONDO:Redundant", source="Orphanet:667/btnt"} ! autosomal recessive osteopetrosis property_value: exactMatch DOID:0110944 property_value: exactMatch http://identifiers.org/mesh/C566933 property_value: exactMatch https://omim.org/entry/611490 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5993/osteopetrosis-autosomal-recessive-4 xsd:anyURI {source="GARD:0005993"} [Term] id: MONDO:0012679 name: autosomal recessive osteopetrosis 6 def: "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the PLEKHM1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0004156"} subset: ordo_malformation_syndrome {source="Orphanet:210110"} synonym: "autosomal recessive intermediate osteopetrosis" EXACT [Orphanet:210110] synonym: "autosomal recessive osteopetrosis intermediate form" EXACT [DOID:0110945] synonym: "autosomal recessive osteopetrosis type 6" EXACT [DOID:0110945, MONDORULE:1] synonym: "intermediate osteopetrosis" RELATED [Orphanet:210110] synonym: "OPTB6" EXACT ABBREVIATION [DOID:0110945, MONDO:Lexical, OMIM:611497] synonym: "osteopetrosis (disease) caused by mutation in PLEKHM1" EXACT [] synonym: "osteopetrosis autosomal recessive 6" RELATED [GARD:0004156] synonym: "osteopetrosis autosomal recessive intermediate form" RELATED [GARD:0004156] synonym: "osteopetrosis, autosomal recessive 6" RELATED [MONDO:Lexical, OMIM:611497] synonym: "osteopetrosis, autosomal recessive type 6" EXACT [MONDORULE:1, OMIM:611497] synonym: "osteopetrosis, autosomal recessive, Intermediate form" RELATED [OMIM:611497] synonym: "PLEKHM1 osteopetrosis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0110945 {source="MONDO:equivalentTo"} xref: MESH:C566931 {source="MONDO:equivalentTo"} xref: OMIM:611497 {source="Orphanet:210110", source="DOID:0110945", source="MONDO:equivalentTo", source="Orphanet:210110/e"} xref: Orphanet:210110 {source="OMIM:611497", source="MONDO:equivalentTo"} xref: UMLS:C1969093 {source="Orphanet:210110", source="OMIM:611497", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019026 ! autosomal recessive osteopetrosis property_value: exactMatch DOID:0110945 property_value: exactMatch http://identifiers.org/mesh/C566931 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969093 property_value: exactMatch https://omim.org/entry/611497 property_value: exactMatch Orphanet:210110 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4156/osteopetrosis-autosomal-recessive-6 xsd:anyURI {source="GARD:0004156"} [Term] id: MONDO:0012682 name: immunodeficiency 35 def: "Any hereditary predisposition to infections in which the cause of the disease is a mutation in the TYK2 gene." [MONDO:patterns/disease_series_by_gene] comment: OMIM has the synonym hyper-IgE syndrome with atypical mycobacteriosis, autosomal recessive but the clinical description does not suggest that this is a type of hyper-IgE syndrome. Some patients presented with hyper-IgE syndrome, whereas one had mildly increased serum IgE. subset: ordo_disease {source="Orphanet:331226"} subset: predisposition synonym: "autosomal recessive hyper-IgE syndrome due to TYK2 deficiency" EXACT [Orphanet:331226] synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in TYK2" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "HIES with atypical Mycobacteriosis, autosomal recessive" EXACT [OMIM:611521] synonym: "hyper-IgE syndrome with atypical Mycobacteriosis, autosomal recessive" EXACT [OMIM:611521] synonym: "IMD35" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611521] synonym: "immunodeficiency 35" EXACT [MONDO:Lexical, OMIM:611521] synonym: "immunodeficiency type 35" EXACT [MONDORULE:2, OMIM:611521] synonym: "susceptibility to infection due to TYK2 deficiency" EXACT [] synonym: "TYK2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "TYK2 deficiency" EXACT [OMIM:611521] synonym: "tyrosine kinase 2 deficiency" EXACT [OMIM:611521] xref: DOID:0111989 {source="MONDO:equivalentTo"} xref: MESH:C566928 {source="MONDO:equivalentTo"} xref: OMIM:611521 {source="MONDO:equivalentTo", source="Orphanet:331226", source="Orphanet:331226/e"} xref: Orphanet:331226 {source="OMIM:611521", source="MONDO:equivalentTo"} xref: UMLS:C1969086 {source="OMIM:611521", source="MONDO:equivalentTo", source="Orphanet:331226", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015979 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary predisposition to infections property_value: exactMatch DOID:0111989 property_value: exactMatch http://identifiers.org/mesh/C566928 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969086 property_value: exactMatch https://omim.org/entry/611521 property_value: exactMatch Orphanet:331226 [Term] id: MONDO:0012683 name: pontocerebellar hypoplasia type 6 def: "Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis." [Orphanet:166073] subset: clingen subset: gard_rare {source="GARD:0010710"} subset: ordo_malformation_syndrome {source="Orphanet:166073"} synonym: "encephalopathy fatal infantile with mitochondrial respiratory chain defects" RELATED [GARD:0010710] synonym: "encephalopathy, fatal infantile, with mitochondrial respiratory chain defects" RELATED [OMIM:611523] synonym: "fatal infantile encephalopathy with mitochondrial respiratory chain defects" EXACT [Orphanet:166073] synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in RARS2" EXACT [MONDO:design_pattern] synonym: "PCH6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611523, Orphanet:166073] synonym: "pontocerebellar hypoplasia type 6" EXACT [] synonym: "pontocerebellar hypoplasia, type 6" RELATED [MONDO:Lexical, OMIM:611523] synonym: "RARS2 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060275 {source="MONDO:equivalentTo"} xref: MESH:C548074 {source="DOID:0060275", source="Orphanet:166073/e", source="MONDO:equivalentTo", source="Orphanet:166073"} xref: OMIM:611523 {source="DOID:0060275", source="Orphanet:166073/e", source="MONDO:equivalentTo", source="Orphanet:166073"} xref: Orphanet:166073 {source="DOID:0060275", source="MONDO:equivalentTo", source="OMIM:611523"} xref: SCTID:718606005 {source="MONDO:equivalentTo"} xref: UMLS:C1969084 {source="DOID:0060275", source="Orphanet:166073/e", source="MONDO:equivalentTo", source="OMIM:611523", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:166073"} is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0020135 {source="DC-OMIM:611523", source="DOID:0060275", source="MONDO:Redundant", source="OMIM:611523", source="Orphanet:166073"} ! pontocerebellar hypoplasia property_value: exactMatch DOID:0060275 property_value: exactMatch http://identifiers.org/mesh/C548074 property_value: exactMatch http://identifiers.org/snomedct/718606005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969084 property_value: exactMatch https://omim.org/entry/611523 property_value: exactMatch Orphanet:166073 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10710/pontocerebellar-hypoplasia-type-6 xsd:anyURI {source="GARD:0010710"} [Term] id: MONDO:0012693 name: glycogen storage disease due to muscle and heart glycogen synthase deficiency def: "A glycogen storage disease characterized by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase." [https://orcid.org/0000-0001-5208-3432, Orphanet:137625] subset: ordo_disease {source="Orphanet:137625"} synonym: "glycogen storage disease 0, muscle" RELATED [MONDO:Lexical, OMIM:611556] synonym: "glycogen storage disease due to glycogen synthase deficiency of heart" EXACT [MONDO:design_pattern] synonym: "glycogen storage disease type 0, muscle" RELATED [GARD:0010760] synonym: "glycogen storage disease type 0b" EXACT [Orphanet:137625] synonym: "glycogenosis due to muscle and heart glycogen synthase deficiency" EXACT [Orphanet:137625] synonym: "glycogenosis type 0b" EXACT [Orphanet:137625] synonym: "GSD 0B" RELATED [OMIM:611556] synonym: "GSD due to muscle and heart glycogen synthase deficiency" EXACT [Orphanet:137625] synonym: "GSD type 0b" EXACT [Orphanet:137625] synonym: "GSD0B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611556] synonym: "heart glycogen storage disease due to glycogen synthase deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "muscle glycogen storage disease 0" RELATED [OMIM:611556] synonym: "muscle glycogen synthase deficiency" RELATED [OMIM:611556] xref: MESH:C566917 {source="MONDO:equivalentTo"} xref: OMIM:611556 {source="MONDO:equivalentTo", source="Orphanet:137625", source="Orphanet:137625/e"} xref: Orphanet:137625 {source="MONDO:equivalentTo", source="OMIM:611556"} xref: SCTID:725027004 {source="MONDO:equivalentTo"} xref: UMLS:C1969054 {source="MONDO:equivalentTo", source="OMIM:611556", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0002412 {source="MONDO:Redundant", source="Orphanet:137625", source="PMID:33340416"} ! disorder of glycogen metabolism property_value: exactMatch http://identifiers.org/mesh/C566917 property_value: exactMatch http://identifiers.org/snomedct/725027004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969054 property_value: exactMatch https://omim.org/entry/611556 property_value: exactMatch Orphanet:137625 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0012699 name: autosomal recessive limb-girdle muscular dystrophy type 2M def: "A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases." [Orphanet:206554] subset: ordo_disease {source="Orphanet:206554"} synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKTN" EXACT [MONDO:design_pattern] synonym: "FKTN autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "LGMD-FKTN related" EXACT [https://clinicalgenome.org/affiliation/50061/] synonym: "LGMD2M" EXACT ABBREVIATION [DOID:0110296, Orphanet:206554] synonym: "limb-girdle muscular dystrophy type 2M" RELATED [GARD:0012538] synonym: "MDDGC4" EXACT ABBREVIATION [DOID:0110296, MONDO:Lexical, OMIM:611588] synonym: "muscular dystrophy, limb-girdle, type 2M" RELATED [OMIM:611588] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4" EXACT [DOID:0110296] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4" RELATED [MONDO:Lexical, OMIM:611588] xref: DOID:0110296 {source="MONDO:equivalentTo"} xref: MESH:C566912 {source="MONDO:equivalentTo"} xref: OMIM:611588 {source="Orphanet:206554/e", source="MONDO:equivalentTo", source="DOID:0110296", source="Orphanet:206554"} xref: Orphanet:206554 {source="MONDO:equivalentTo", source="OMIM:611588", source="DOID:0110296"} xref: UMLS:C1969040 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:611588", source="Orphanet:206554"} is_a: MONDO:0000173 {source="OMIM:611588"} ! muscular dystrophy-dystroglycanopathy, type C is_a: MONDO:0015152 {source="DOID:0110296", source="MONDO:Redundant", source="OMIM:611588", source="Orphanet:206554"} ! autosomal recessive limb-girdle muscular dystrophy is_a: MONDO:0016333 ! familial dilated cardiomyopathy is_a: MONDO:0017745 {source="Orphanet:206554"} ! disorder of O-mannosylglycan synthesis is_a: MONDO:0700067 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in FKTN property_value: exactMatch DOID:0110296 property_value: exactMatch http://identifiers.org/mesh/C566912 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969040 property_value: exactMatch https://omim.org/entry/611588 property_value: exactMatch Orphanet:206554 [Term] id: MONDO:0012700 name: renal tubular acidosis, distal, 4, with hemolytic anemia def: "Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia." [Orphanet:93610] subset: ordo_clinical_subtype {source="Orphanet:93610"} synonym: "distal renal tubular acidosis 4 with hemolytic anaemia" EXACT OMO:0003005 [] synonym: "distal renal tubular acidosis 4 with hemolytic anemia" EXACT [OMIM:611590, OMIM:genemap2] synonym: "distal renal tubular acidosis with anaemia" EXACT OMO:0003005 [] synonym: "distal renal tubular acidosis with anemia" EXACT [Orphanet:93610] synonym: "dRTA with anaemia" EXACT OMO:0003005 [] synonym: "dRTA with anemia" EXACT [Orphanet:93610] synonym: "renal tubular acidosis, distal, with hemolytic anaemia" RELATED OMO:0003005 [] synonym: "renal tubular acidosis, distal, with hemolytic anemia" RELATED [OMIM:611590] synonym: "renal tubular acidosis, distal, with normal Red cell morphology" RELATED [OMIM:611590] synonym: "RTA, distal, autosomal recessive, with hemolytic Anaemia" RELATED OMO:0003005 [] synonym: "RTA, distal, autosomal recessive, with hemolytic Anemia" RELATED [OMIM:611590] xref: OMIM:611590 {source="MONDO:equivalentTo", source="Orphanet:93610", source="Orphanet:93610/e"} xref: Orphanet:93610 {source="MONDO:equivalentTo", source="OMIM:611590"} xref: UMLS:C1969038 {source="MONDO:equivalentTo", source="Orphanet:93610", source="MONDO:ncbi_mim2gene_medline", source="OMIM:611590"} is_a: MONDO:0003689 ! familial hemolytic anemia is_a: MONDO:0015827 {source="Orphanet:93610"} ! distal renal tubular acidosis property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969038 property_value: exactMatch https://omim.org/entry/611590 property_value: exactMatch Orphanet:93610 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012701 name: cataract 12 multiple types def: "A cataract that has material basis in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22." [DOID:0110239, PMID:10729115] synonym: "cataract 12, multiple types" RELATED [MONDO:Lexical, OMIM:611597] synonym: "CTRCT12" EXACT ABBREVIATION [DOID:0110239, MONDO:Lexical, OMIM:611597] xref: DOID:0110239 {source="MONDO:equivalentTo"} xref: MESH:C566909 {source="MONDO:equivalentTo"} xref: OMIM:611597 {source="DOID:0110239", source="MONDO:equivalentTo"} xref: Orphanet:91492 {source="MONDO:relatedTo", source="OMIM:611597"} xref: Orphanet:98992 {source="MONDO:relatedTo", source="OMIM:611597"} is_a: MONDO:0005129 {source="DOID:0110239", source="MESH:C566909", source="MONDO:DOID", source="OMIM:611597"} ! cataract property_value: exactMatch DOID:0110239 property_value: exactMatch http://identifiers.org/mesh/C566909 property_value: exactMatch https://omim.org/entry/611597 [Term] id: MONDO:0012703 name: lissencephaly due to TUBA1A mutation def: "Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis." [Orphanet:171680] subset: ordo_malformation_syndrome {source="Orphanet:171680"} synonym: "LIS3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611603] synonym: "lissencephaly 3" EXACT [MONDO:Lexical, OMIM:611603] xref: MESH:C566908 {source="MONDO:equivalentTo"} xref: NCIT:C148461 {source="MONDO:equivalentTo"} xref: OMIM:611603 {source="Orphanet:171680", source="MONDO:equivalentTo", source="Orphanet:171680/e"} xref: Orphanet:171680 {source="MONDO:equivalentTo", source="OMIM:611603"} xref: UMLS:CN200289 {source="MONDO:equivalentTo"} is_a: MONDO:0015148 ! lissencephaly type 3 property_value: exactMatch http://identifiers.org/mesh/C566908 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200289 property_value: exactMatch https://omim.org/entry/611603 property_value: exactMatch NCIT:C148461 property_value: exactMatch Orphanet:171680 [Term] id: MONDO:0012714 name: early-onset myopathy with fatal cardiomyopathy subset: ordo_disease {source="Orphanet:289377"} synonym: "EOMFC" RELATED ABBREVIATION [OMIM:611705] synonym: "myopathy, early-onset, with fatal cardiomyopathy" RELATED [OMIM:611705] synonym: "Salih myopathy" EXACT [Orphanet:289377] synonym: "SALMY" RELATED ABBREVIATION [OMIM:611705] xref: DOID:0081341 {source="MONDO:equivalentTo"} xref: MESH:C567129 {source="MONDO:equivalentTo"} xref: OMIM:611705 {source="Orphanet:289377", source="MONDO:equivalentTo", source="Orphanet:289377/e"} xref: Orphanet:289377 {source="MONDO:equivalentTo", source="OMIM:611705"} xref: SCTID:702343002 {source="MONDO:equivalentTo"} xref: UMLS:C2673677 {source="Orphanet:289377", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:611705"} is_a: EFO:1001902 ! neuromuscular disease is_a: MONDO:0016333 ! familial dilated cardiomyopathy is_a: MONDO:0100493 {source="https://clinicalgenome.org/affiliation/40031/"} ! autosomal recessive titinopathy property_value: exactMatch DOID:0081341 property_value: exactMatch http://identifiers.org/mesh/C567129 property_value: exactMatch http://identifiers.org/snomedct/702343002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673677 property_value: exactMatch https://omim.org/entry/611705 property_value: exactMatch Orphanet:289377 [Term] id: MONDO:0012716 name: spondyloepiphyseal dysplasia, Cantu type def: "Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia)." [Orphanet:163654] subset: ordo_disease {source="Orphanet:163654"} synonym: "fantasy Island syndrome" RELATED [OMIM:611717] synonym: "SED-BDS" EXACT [Orphanet:163654] synonym: "Sed-BDS" RELATED [OMIM:611717] synonym: "spondyloepiphyseal dysplasia-brachydactyly and distinctive speech" RELATED [OMIM:611717] synonym: "spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome" EXACT [Orphanet:163654] synonym: "Tatoo dysplasia" RELATED [OMIM:611717] synonym: "tattoo dysplasia" EXACT [Orphanet:163654] xref: DOID:0112287 {source="MONDO:equivalentTo"} xref: MESH:C567128 {source="MONDO:equivalentTo"} xref: OMIM:611717 {source="MONDO:equivalentTo", source="Orphanet:163654", source="Orphanet:163654/e"} xref: Orphanet:163654 {source="MONDO:equivalentTo", source="OMIM:611717"} xref: SCTID:718765003 {source="MONDO:equivalentTo"} xref: UMLS:C2673649 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:163654", source="OMIM:611717"} is_a: MONDO:0016761 {source="Orphanet:163654"} ! spondyloepiphyseal dysplasia property_value: exactMatch DOID:0112287 property_value: exactMatch http://identifiers.org/mesh/C567128 property_value: exactMatch http://identifiers.org/snomedct/718765003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673649 property_value: exactMatch https://omim.org/entry/611717 property_value: exactMatch Orphanet:163654 [Term] id: MONDO:0012718 name: hypotonia with lactic acidemia and hyperammonemia def: "This syndrome is characterized by severe hypotonia, lactic academia and congenital hyperammonaemia." [Orphanet:137908] subset: ordo_disease {source="Orphanet:137908"} synonym: "combined oxidative phosphorylation defect type 5" EXACT [Orphanet:137908] synonym: "combined oxidative phosphorylation deficiency 5" RELATED [MONDO:Lexical, OMIM:611719] synonym: "combined oxidative phosphorylation deficiency caused by mutation in MRPS22" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 5" EXACT [MONDORULE:1, OMIM:611719] synonym: "COXPD5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611719, Orphanet:137908] synonym: "MRPS22 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111473 {source="MONDO:equivalentTo"} xref: MESH:C567126 {source="MONDO:equivalentTo"} xref: OMIM:611719 {source="Orphanet:137908/e", source="MONDO:equivalentTo", source="Orphanet:137908"} xref: Orphanet:137908 {source="OMIM:611719", source="MONDO:equivalentTo"} xref: SCTID:724279004 {source="MONDO:equivalentTo"} xref: UMLS:C2673642 {source="OMIM:611719", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:137908"} xref: UMLS:C4510567 {source="MONDO:equivalentTo"} is_a: MONDO:0000732 {source="DC-OMIM:611719", source="MONDO:Redundant", source="OMIM:611719"} ! combined oxidative phosphorylation deficiency property_value: exactMatch DOID:0111473 property_value: exactMatch http://identifiers.org/mesh/C567126 property_value: exactMatch http://identifiers.org/snomedct/724279004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673642 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510567 property_value: exactMatch https://omim.org/entry/611719 property_value: exactMatch Orphanet:137908 [Term] id: MONDO:0012719 name: combined PSAP deficiency def: "Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses." [Orphanet:139406] subset: gard_rare {source="GARD:0012505"} subset: ordo_disease {source="Orphanet:139406"} synonym: "combined prosaposin deficiency" EXACT [Orphanet:139406] synonym: "combined SAP deficiency" RELATED [GARD:0012505] synonym: "combined Sap deficiency" RELATED [OMIM:611721] synonym: "combined saposin deficiency" RELATED [GARD:0012505, OMIM:611721] synonym: "encephalopathy due to prosaposin deficiency" EXACT [Orphanet:139406] synonym: "prosaposin deficiency" RELATED [OMIM:611721] synonym: "PSAPD" RELATED ABBREVIATION [GARD:0012505] xref: DOID:0111330 {source="MONDO:equivalentTo"} xref: MESH:C567125 {source="MONDO:equivalentTo"} xref: OMIM:611721 {source="Orphanet:139406", source="MONDO:equivalentTo", source="Orphanet:139406/e"} xref: Orphanet:139406 {source="MONDO:equivalentTo", source="OMIM:611721"} xref: SCTID:720864008 {source="MONDO:equivalentTo"} xref: UMLS:C2673635 {source="MONDO:equivalentTo", source="OMIM:611721", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4303785 {source="MONDO:equivalentTo"} is_a: MONDO:0100517 {source="https://clinicalgenome.org/affiliation/50009/"} ! PSAP-related sphingolipidosis property_value: exactMatch DOID:0111330 property_value: exactMatch http://identifiers.org/mesh/C567125 property_value: exactMatch http://identifiers.org/snomedct/720864008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673635 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303785 property_value: exactMatch https://omim.org/entry/611721 property_value: exactMatch Orphanet:139406 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6019 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12505/encephalopathy-due-to-prosaposin-deficiency xsd:anyURI {source="GARD:0012505"} [Term] id: MONDO:0012720 name: Krabbe disease due to saposin A deficiency subset: gard_rare {source="GARD:0010289"} synonym: "Krabbe disease, atypical" EXACT [OMIM:611722, OMIM:genemap2] synonym: "Krabbe disease, atypical due to saposin A deficiency" EXACT [GARD:0010289] synonym: "Krabbe disease, atypical, due to saposin A deficiency" EXACT [OMIM:611722] synonym: "saposin A deficiency" RELATED [OMIM:611722] xref: MESH:C567097 {source="MONDO:equivalentTo"} xref: OMIM:611722 {source="MONDO:equivalentTo"} xref: UMLS:C2673266 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:611722"} is_a: MONDO:0015905 ! syndromic dyslipidemia is_a: MONDO:0100517 {source="https://clinicalgenome.org/affiliation/50009/"} ! PSAP-related sphingolipidosis relationship: disease_shares_features_of MONDO:0009499 {source="MESH:C567097", source="Orphanet:487/btnt"} ! Krabbe disease property_value: exactMatch http://identifiers.org/mesh/C567097 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673266 property_value: exactMatch https://omim.org/entry/611722 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6019 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10289/krabbe-disease-atypical-due-to-saposin-a-deficiency xsd:anyURI {source="GARD:0010289"} [Term] id: MONDO:0012721 name: progressive myoclonic epilepsy type 3 def: "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0002167"} subset: ordo_disease {source="Orphanet:263516"} synonym: "ceroid lipofuscinosis, neuronal, 14" RELATED [OMIM:611726] synonym: "epilepsy progressive myoclonic type 3" RELATED [GARD:0002167] synonym: "epilepsy, progressive myoclonic 3, with or without intracellular inclusions" EXACT [OMIM:611726, OMIM:genemap2] synonym: "epilepsy, progressive myoclonic, 3, with or without intracellular inclusions" RELATED [MONDO:Lexical, OMIM:611726] synonym: "EPM 3" RELATED [GARD:0002167] synonym: "EPM3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611726, Orphanet:263516] synonym: "KCTD7 progressive myoclonic epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "PME type 3" EXACT [Orphanet:263516] synonym: "progressive myoclonic epilepsy 3" RELATED [GARD:0002167] synonym: "progressive myoclonic epilepsy caused by mutation in KCTD7" EXACT [MONDO:design_pattern] synonym: "progressive myoclonic epilepsy due to KCTD7 deficiency" EXACT [Orphanet:263516] synonym: "progressive myoclonic epilepsy type 3" EXACT [] synonym: "progressive myoclonus epilepsy type 3" EXACT [Orphanet:263516] xref: DOID:0111446 {source="MONDO:equivalentTo"} xref: MESH:C567095 {source="MONDO:equivalentTo"} xref: OMIM:611726 {source="Orphanet:263516/e", source="MONDO:equivalentTo", source="Orphanet:263516"} xref: Orphanet:263516 {source="MONDO:equivalentTo", source="OMIM:611726"} xref: UMLS:C2673257 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:263516", source="OMIM:611726"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015286 ! congenital disorder of glycosylation is_a: MONDO:0016295 {source="Orphanet:263516", source="Orphanet:263516/inferred"} ! neuronal ceroid lipofuscinosis is_a: MONDO:0020074 {source="DC-OMIM:611726", source="MESH:C567095", source="MONDO:Redundant", source="OMIM:611726", source="Orphanet:263516", source="Orphanet:263516/inferred"} ! progressive myoclonus epilepsy property_value: exactMatch DOID:0111446 property_value: exactMatch http://identifiers.org/mesh/C567095 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673257 property_value: exactMatch https://omim.org/entry/611726 property_value: exactMatch Orphanet:263516 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2167/epilepsy-progressive-myoclonic-type-3 xsd:anyURI {source="GARD:0002167"} [Term] id: MONDO:0012724 name: familial cold autoinflammatory syndrome 2 def: "An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month." [NCIT:C119043] subset: ordo_disease {source="Orphanet:247868"} synonym: "familial cold autoinflammatory syndrome 2" EXACT [MONDO:Lexical, OMIM:611762] synonym: "familial cold autoinflammatory syndrome caused by mutation in NLRP12" EXACT [MONDO:design_pattern] synonym: "familial cold autoinflammatory syndrome type 2" EXACT [DOID:0090063, MONDORULE:1, OMIM:611762, Orphanet:247868] synonym: "FCAS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611762, Orphanet:247868] synonym: "NALP12-associated hereditary periodic fever syndrome" EXACT [NCIT:C119043] synonym: "NAPS12" EXACT ABBREVIATION [Orphanet:247868] synonym: "NLRP12 familial cold autoinflammatory syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "NLRP12-associated hereditary periodic fever syndrome" EXACT [DOID:0090063] xref: DOID:0090063 {source="MONDO:equivalentTo"} xref: MESH:C567090 {source="MONDO:equivalentTo"} xref: NCIT:C119043 {source="MONDO:equivalentTo"} xref: OMIM:611762 {source="DOID:0090063", source="MONDO:equivalentTo", source="Orphanet:247868", source="Orphanet:247868/e"} xref: Orphanet:247868 {source="OMIM:611762", source="MONDO:equivalentTo"} xref: UMLS:C2673198 {source="DOID:0090063", source="OMIM:611762", source="MONDO:equivalentTo", source="Orphanet:247868", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C3897034 {source="MONDO:equivalentTo", source="NCIT:C119043"} is_a: MONDO:0018768 {source="DC-OMIM:611762", source="DOID:0090063", source="MONDO:Redundant", source="OMIM:611762"} ! familial cold autoinflammatory syndrome property_value: exactMatch DOID:0090063 property_value: exactMatch http://identifiers.org/mesh/C567090 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673198 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3897034 property_value: exactMatch https://omim.org/entry/611762 property_value: exactMatch NCIT:C119043 property_value: exactMatch Orphanet:247868 [Term] id: MONDO:0012725 name: lipoprotein glomerulopathy subset: ordo_disease {source="Orphanet:329481"} synonym: "lipoprotein glomerulopathy" EXACT [MONDO:Lexical, OMIM:611771] synonym: "LPG" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611771, Orphanet:329481] xref: ICD9:272.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:593.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C567089 {source="MONDO:equivalentTo"} xref: OMIM:611771 {source="Orphanet:329481", source="MONDO:equivalentTo", source="Orphanet:329481/e"} xref: Orphanet:329481 {source="OMIM:611771", source="MONDO:equivalentTo"} xref: SCTID:446923008 {source="MONDO:equivalentTo"} xref: UMLS:C2673196 {source="OMIM:611771", source="Orphanet:329481", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015905 {source="Orphanet:329481"} ! syndromic dyslipidemia property_value: exactMatch http://identifiers.org/mesh/C567089 property_value: exactMatch http://identifiers.org/snomedct/446923008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673196 property_value: exactMatch https://omim.org/entry/611771 property_value: exactMatch Orphanet:329481 [Term] id: MONDO:0012726 name: autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome def: "Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterized by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal hemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures." [Orphanet:73229] subset: ordo_disease {source="Orphanet:73229"} synonym: "angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps" RELATED [MONDO:Lexical, OMIM:611773] synonym: "HANAC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611773] synonym: "HANAC syndrome" EXACT [Orphanet:73229] synonym: "hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome" RELATED [GARD:0010889] synonym: "hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome" EXACT [Orphanet:73229] xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C567088 {source="MONDO:equivalentTo"} xref: OMIM:611773 {source="MONDO:equivalentTo", source="Orphanet:73229", source="Orphanet:73229/e"} xref: Orphanet:73229 {source="OMIM:611773", source="MONDO:equivalentTo"} xref: SCTID:702428000 {source="MONDO:equivalentTo"} xref: UMLS:C2673195 {source="OMIM:611773", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:73229"} is_a: MONDO:0018788 ! COL4A1 or COL4A2-related cerebral small vessel disease is_a: MONDO:0019723 {source="Orphanet:73229"} ! disease of glomerular basement membrane property_value: exactMatch http://identifiers.org/mesh/C567088 property_value: exactMatch http://identifiers.org/snomedct/702428000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673195 property_value: exactMatch https://omim.org/entry/611773 property_value: exactMatch Orphanet:73229 [Term] id: MONDO:0012733 name: autosomal recessive bestrophinopathy def: "Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG)." [Orphanet:139455] subset: ordo_disease {source="Orphanet:139455"} synonym: "ARB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611809] synonym: "bestrophinopathy" EXACT [DOID:0050662] synonym: "bestrophinopathy, autosomal recessive" RELATED [MONDO:Lexical, OMIM:611809] synonym: "retinopathy, Burgess-Black type" EXACT [Orphanet:139455] xref: DOID:0050662 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.5 {source="Orphanet:139455/attributed", source="Orphanet:139455/ntbt", source="MONDO:directSiblingOf", source="Orphanet:139455"} xref: MESH:C567518 {source="MONDO:equivalentTo"} xref: OMIM:611809 {source="DOID:0050662", source="Orphanet:139455/e", source="MONDO:equivalentTo", source="Orphanet:139455"} xref: Orphanet:139455 {source="OMIM:611809", source="MONDO:equivalentTo"} xref: SCTID:723828008 {source="MONDO:equivalentTo"} xref: UMLS:C2678493 {source="OMIM:611809", source="MONDO:equivalentTo"} xref: UMLS:C3888198 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0009606 {source="DOID:0050662"} ! macular degeneration is_a: MONDO:0019118 {source="Orphanet:139455"} ! inherited retinal dystrophy property_value: exactMatch DOID:0050662 property_value: exactMatch http://identifiers.org/mesh/C567518 property_value: exactMatch http://identifiers.org/snomedct/723828008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678493 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888198 property_value: exactMatch https://omim.org/entry/611809 property_value: exactMatch Orphanet:139455 [Term] id: MONDO:0012734 name: SERKAL syndrome def: "SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterized by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs." [Orphanet:139466] subset: ordo_malformation_syndrome {source="Orphanet:139466"} synonym: "46,XX Sex reversal with dysgenesis of kidneys Adrenals and lungs" EXACT [NCIT:C123726] synonym: "46,XX SEX reversal with dysgenesis of kidneys, ADRENALS, and lungs" RELATED [MONDO:Lexical, OMIM:611812] synonym: "SERKAL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611812] synonym: "SERKAL syndrome" EXACT [OMIM:611812] synonym: "Sex reversion-kidneys, adrenal and lung dysgenesis syndrome" EXACT [Orphanet:139466] xref: MESH:C567517 {source="MONDO:equivalentTo"} xref: NCIT:C123726 {source="MONDO:equivalentTo"} xref: OMIM:611812 {source="Orphanet:139466/e", source="MONDO:equivalentTo", source="Orphanet:139466"} xref: Orphanet:139466 {source="MONDO:equivalentTo", source="OMIM:611812"} xref: SCTID:723720008 {source="MONDO:equivalentTo"} xref: UMLS:C2678492 {source="NCIT:C123726", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:611812", source="Orphanet:139466"} is_a: MONDO:0009299 {source="DC-OMIM:611812"} ! 46 XX gonadal dysgenesis property_value: exactMatch http://identifiers.org/mesh/C567517 property_value: exactMatch http://identifiers.org/snomedct/723720008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678492 property_value: exactMatch https://omim.org/entry/611812 property_value: exactMatch NCIT:C123726 property_value: exactMatch Orphanet:139466 [Term] id: MONDO:0012737 name: long QT syndrome 10 def: "Any long QT syndrome in which the cause of the disease is a mutation in the SCN4B gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0010436"} synonym: "atrial fibrillation, familial, 17" RELATED [OMIM:611819] synonym: "long QT syndrome 10" EXACT [MONDO:Lexical, OMIM:611819] synonym: "long QT syndrome caused by mutation in SCN4B" EXACT [MONDO:design_pattern] synonym: "long QT syndrome type 10" EXACT [DOID:0110651, MONDORULE:2, OMIM:611819] synonym: "LQT10" EXACT ABBREVIATION [DOID:0110651, MONDO:Lexical, OMIM:611819] synonym: "SCN4B long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110651 {source="MONDO:equivalentTo"} xref: MESH:C567514 {source="MONDO:equivalentTo"} xref: OMIM:611819 {source="MONDO:equivalentTo", source="DOID:0110651"} xref: Orphanet:101016 {source="OMIM:611819", source="MONDO:directSiblingOf"} xref: Orphanet:334 {source="OMIM:611819", source="MONDO:relatedTo"} xref: UMLS:C2678484 {source="OMIM:611819", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019171 {source="OMIM:611819", source="Orphanet:768/btnt"} ! familial long QT syndrome property_value: exactMatch DOID:0110651 property_value: exactMatch http://identifiers.org/mesh/C567514 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678484 property_value: exactMatch https://omim.org/entry/611819 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10436/long-qt-syndrome-10 xsd:anyURI {source="GARD:0010436"} [Term] id: MONDO:0012738 name: long QT syndrome 11 def: "Any long QT syndrome in which the cause of the disease is a mutation in the AKAP9 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0010437"} synonym: "AKAP9 long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "long QT syndrome 11" EXACT [MONDO:Lexical, OMIM:611820] synonym: "long QT syndrome caused by mutation in AKAP9" EXACT [MONDO:design_pattern] synonym: "long QT syndrome type 11" EXACT [DOID:0110652, MONDORULE:2, OMIM:611820] synonym: "LQT11" EXACT ABBREVIATION [DOID:0110652, MONDO:Lexical, OMIM:611820] xref: DOID:0110652 {source="MONDO:equivalentTo"} xref: MESH:C567513 {source="MONDO:equivalentTo"} xref: OMIM:611820 {source="MONDO:equivalentTo", source="DOID:0110652"} xref: Orphanet:101016 {source="OMIM:611820", source="MONDO:directSiblingOf"} xref: UMLS:C2678483 {source="MONDO:equivalentTo", source="OMIM:611820", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019171 {source="OMIM:611820", source="Orphanet:101016-prototype"} ! familial long QT syndrome property_value: exactMatch DOID:0110652 property_value: exactMatch http://identifiers.org/mesh/C567513 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678483 property_value: exactMatch https://omim.org/entry/611820 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10437/long-qt-syndrome-11 xsd:anyURI {source="GARD:0010437"} [Term] id: MONDO:0012739 name: microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome def: "This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct." [Orphanet:139450] subset: ordo_malformation_syndrome {source="Orphanet:139450"} synonym: "Balikova-Vermeesch syndrome" EXACT [Orphanet:139450] synonym: "microtia eye coloboma and imperforation of the nasolacrimal duct" RELATED [GARD:0010300] synonym: "microtia with nasolacrimal duct imperforation and eye coloboma" RELATED [OMIM:611863] xref: MESH:C567512 {source="MONDO:equivalentTo"} xref: OMIM:611863 {source="Orphanet:139450/e", source="MONDO:equivalentTo", source="Orphanet:139450"} xref: Orphanet:139450 {source="MONDO:equivalentTo", source="OMIM:611863"} xref: UMLS:C2678482 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:611863", source="Orphanet:139450"} is_a: MONDO:0020145 {source="MONDO:0020149-obsoleted"} ! developmental defect of the eye property_value: exactMatch http://identifiers.org/mesh/C567512 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678482 property_value: exactMatch https://omim.org/entry/611863 property_value: exactMatch Orphanet:139450 [Term] id: MONDO:0012740 name: chromosome 22q11.2 deletion syndrome, distal def: "Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumors." [Orphanet:261330] subset: ordo_malformation_syndrome {source="Orphanet:261330"} synonym: "chromosome 22q11.2 deletion syndrome, distal" EXACT [OMIM:611867] synonym: "distal 22q11.2 microdeletion syndrome" EXACT [DOID:0060413] synonym: "distal chromosome 22Q11.2 deletion syndrome" RELATED [OMIM:611867] synonym: "distal del(22)(q11.2)" EXACT [Orphanet:261330] synonym: "distal monosomy 22q11.2" EXACT [Orphanet:261330] xref: DECIPHER:72 {source="MONDO:equivalentTo"} xref: DOID:0060413 {source="MONDO:equivalentTo"} xref: MESH:C567511 {source="MONDO:equivalentTo"} xref: OMIM:611867 {source="Orphanet:261330", source="DOID:0060413", source="MONDO:equivalentTo", source="Orphanet:261330/e"} xref: Orphanet:261330 {source="DOID:0060413", source="MONDO:equivalentTo", source="OMIM:611867"} xref: SCTID:734029004 {source="MONDO:equivalentTo"} xref: UMLS:C2678480 {source="Orphanet:261330", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:611867"} xref: UMLS:C4518343 {source="MONDO:equivalentTo"} is_a: MONDO:0018923 ! 22q11.2 deletion syndrome property_value: exactMatch DOID:0060413 property_value: exactMatch http://identifiers.org/mesh/C567511 property_value: exactMatch http://identifiers.org/snomedct/734029004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678480 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518343 property_value: exactMatch https://omim.org/entry/611867 property_value: exactMatch Orphanet:261330 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0012747 name: glycogen storage disease due to aldolase A deficiency def: "Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported." [Orphanet:57] subset: ordo_disease {source="Orphanet:57"} synonym: "Aldoa deficiency" RELATED [OMIM:611881] synonym: "aldolase a deficiency" RELATED [OMIM:611881] synonym: "aldolase deficiency red cell" RELATED [GARD:0000600] synonym: "aldolase deficiency, Red cell" RELATED [OMIM:611881] synonym: "glycogen storage disease 12" RELATED [GARD:0000600, OMIM:611881] synonym: "glycogen storage disease due to aldolase A deficiency" EXACT [] synonym: "glycogen storage disease type 12" EXACT [MONDORULE:2, OMIM:611881, Orphanet:57] synonym: "glycogen storage disease type XII" EXACT [Orphanet:57] synonym: "glycogen storage disease XII" RELATED [MONDO:Lexical, OMIM:611881] synonym: "glycogenosis due to aldolase A deficiency" EXACT [Orphanet:57] synonym: "glycogenosis type 12" EXACT [Orphanet:57] synonym: "glycogenosis type XII" EXACT [Orphanet:57] synonym: "GSD 12" RELATED [OMIM:611881] synonym: "GSD due to aldolase A deficiency" EXACT [Orphanet:57] synonym: "GSD type 12" EXACT [Orphanet:57] synonym: "GSD type XII" EXACT [Orphanet:57] synonym: "GSD12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611881] synonym: "Red cell aldolase deficiency" RELATED [OMIM:611881] xref: ICD9:282.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562718 {source="MONDO:equivalentTo"} xref: OMIM:611881 {source="Orphanet:57", source="MONDO:equivalentTo", source="Orphanet:57/e"} xref: Orphanet:57 {source="OMIM:611881", source="MONDO:equivalentTo"} xref: SCTID:111578003 {source="MONDO:equivalentTo"} xref: UMLS:C0272066 {source="OMIM:611881", source="Orphanet:57", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:57/e"} is_a: MONDO:0003689 ! familial hemolytic anemia is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis is_a: MONDO:0020585 ! anemia due to erythrocyte enzyme disorder property_value: exactMatch http://identifiers.org/mesh/C562718 property_value: exactMatch http://identifiers.org/snomedct/111578003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272066 property_value: exactMatch https://omim.org/entry/611881 property_value: exactMatch Orphanet:57 property_value: excluded_subClassOf MONDO:0002412 {source="DC-OMIM:611881", source="MESH:C562718", source="Orphanet:57"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0012750 name: lethal arthrogryposis-anterior horn cell disease syndrome subset: ordo_malformation_syndrome {source="Orphanet:53696"} synonym: "congenital arthrogryposis with anterior horn cell disease" EXACT [OMIM:611890, OMIM:genemap2] synonym: "LAAHD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611890, Orphanet:53696] synonym: "lethal arthrogryposis with anterior horn cell disease" RELATED [MONDO:Lexical, OMIM:611890] synonym: "Vuopala disease" EXACT [Orphanet:53696] xref: MESH:C567502 {source="MONDO:equivalentTo"} xref: OMIM:611890 {source="Orphanet:53696", source="MONDO:equivalentTo", source="Orphanet:53696/e"} xref: Orphanet:53696 {source="OMIM:611890", source="MONDO:equivalentTo"} xref: SCTID:715565004 {source="MONDO:equivalentTo"} xref: UMLS:C2678471 {source="Orphanet:53696", source="OMIM:611890", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015168 {source="Orphanet:53696"} ! arthrogryposis multiplex congenita property_value: exactMatch http://identifiers.org/mesh/C567502 property_value: exactMatch http://identifiers.org/snomedct/715565004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678471 property_value: exactMatch https://omim.org/entry/611890 property_value: exactMatch Orphanet:53696 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012755 name: episodic ataxia type 7 def: "Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings." [Orphanet:209970] subset: ordo_disease {source="Orphanet:209970"} synonym: "EA7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611907] synonym: "episodic ataxia, type 7" RELATED [MONDO:Lexical, OMIM:611907] xref: DOID:0050995 {source="MONDO:equivalentTo"} xref: MESH:C567459 {source="MONDO:equivalentTo"} xref: OMIM:611907 {source="DOID:0050995", source="MONDO:equivalentTo", source="Orphanet:209970", source="Orphanet:209970/e"} xref: Orphanet:209970 {source="OMIM:611907", source="MONDO:equivalentTo"} xref: SCTID:718752007 {source="MONDO:equivalentTo"} xref: UMLS:C2677843 {source="OMIM:611907", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:209970"} is_a: MONDO:0016227 {source="DOID:0050995", source="OMIM:611907", source="Orphanet:209970"} ! hereditary episodic ataxia property_value: exactMatch DOID:0050995 property_value: exactMatch http://identifiers.org/mesh/C567459 property_value: exactMatch http://identifiers.org/snomedct/718752007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677843 property_value: exactMatch https://omim.org/entry/611907 property_value: exactMatch Orphanet:209970 [Term] id: MONDO:0012756 name: proximal 16p11.2 microdeletion syndrome def: "A chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity." [Orphanet:261197] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:261197"} subset: predisposition synonym: "16p11.2 deletion syndrome" RELATED [GARD:0010740] synonym: "autism susceptibility 14A" EXACT [OMIM:611913, OMIM:genemap2] synonym: "autism, susceptibility to, 14A" RELATED [OMIM:611913] synonym: "chromosome 16p11.2 deletion syndrome" RELATED [GARD:0010740] synonym: "chromosome 16p11.2 deletion syndrome, 593-KB" RELATED [OMIM:611913] synonym: "chromosome 16p11.2 deletion syndrome, 593kb" EXACT [OMIM:611913, OMIM:genemap2] synonym: "Del(16)(p11.2)" RELATED [GARD:0010740] synonym: "microdeletion 16p11.2" RELATED [GARD:0010740] synonym: "monosomy 16p11.2" RELATED [GARD:0010740] synonym: "proximal del(16)(p11.2)" EXACT [Orphanet:261197] synonym: "proximal monosomy 16p11.2" EXACT [Orphanet:261197] xref: ICD9:758.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C579850 {source="MONDO:equivalentTo"} xref: NCIT:C120408 {source="MONDO:equivalentTo"} xref: OMIM:611913 {source="GARD:0010740", source="Orphanet:261197", source="MONDO:equivalentTo", source="Orphanet:261197/e"} xref: Orphanet:261197 {source="GARD:0010740", source="MONDO:equivalentTo", source="OMIM:611913"} xref: SCTID:699307007 {source="MONDO:equivalentTo"} xref: SCTID:718227006 {source="MONDO:equivalentTo"} xref: UMLS:CN202166 {source="MONDO:equivalentTo"} is_a: MONDO:0016894 {source="Orphanet:261197"} ! partial deletion of the short arm of chromosome 16 relationship: predisposes_towards EFO:0003758 {source="DC-OMIM:611913", source="OMIM:611913"} ! autism property_value: exactMatch http://identifiers.org/mesh/C579850 property_value: exactMatch http://identifiers.org/snomedct/699307007 property_value: exactMatch http://identifiers.org/snomedct/718227006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202166 property_value: exactMatch https://omim.org/entry/611913 property_value: exactMatch NCIT:C120408 property_value: exactMatch Orphanet:261197 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10740/16p112-deletion-syndrome xsd:anyURI {source="GARD:0010740"} [Term] id: MONDO:0012757 name: lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome def: "Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterized by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies." [Orphanet:137631] subset: ordo_disease {source="Orphanet:137631"} synonym: "immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis" RELATED [OMIM:611926] xref: OMIM:611926 {source="Orphanet:137631", source="MONDO:equivalentTo", source="Orphanet:137631/e"} xref: Orphanet:137631 {source="MONDO:equivalentTo", source="OMIM:611926"} xref: SCTID:721977007 {source="MONDO:equivalentTo"} xref: UMLS:C3150156 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:611926"} is_a: MONDO:0017015 {source="Orphanet:137631"} ! primary interstitial lung disease specific to childhood is_a: MONDO:0044200 {source="Orphanet:137631"} ! T-B+ severe combined immunodeficiency property_value: exactMatch http://identifiers.org/snomedct/721977007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150156 property_value: exactMatch https://omim.org/entry/611926 property_value: exactMatch Orphanet:137631 [Term] id: MONDO:0012761 name: chromosome 3q29 microduplication syndrome def: "3q29 microduplication is a chromosomal abnormality associated with variable clinical findings including mild or moderate intellectual deficit and microcephaly." [https://orcid.org/0000-0002-0736-9199, PMID:18241066] subset: gard_rare {source="GARD:0010360"} subset: ordo_malformation_syndrome {source="Orphanet:251038"} synonym: "3q29 microduplication" EXACT [DOID:0060459] synonym: "3q29 microduplication syndrome" EXACT [DECIPHER:77, Orphanet:251038] synonym: "chromosome 3q29 DUPLICATION syndrome" RELATED [OMIM:611936] synonym: "microduplication 3Q29 syndrome" RELATED [OMIM:611936] synonym: "trisomy 3q29" EXACT [DOID:0060459, Orphanet:251038] xref: DECIPHER:77 {source="MONDO:equivalentTo"} xref: DOID:0060459 {source="MONDO:equivalentTo"} xref: MESH:C567626 {source="MONDO:equivalentTo", source="DOID:0060459"} xref: OMIM:611936 {source="MONDO:equivalentTo", source="DOID:0060459", source="Orphanet:251038", source="Orphanet:251038/e"} xref: Orphanet:251038 {source="MONDO:equivalentTo", source="DOID:0060459", source="OMIM:611936"} xref: SCTID:717973004 {source="MONDO:equivalentTo"} xref: UMLS:C2749873 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:251038", source="OMIM:611936"} is_a: MONDO:0016954 {source="Orphanet:251038"} ! partial duplication of the long arm of chromosome 3 property_value: exactMatch DOID:0060459 property_value: exactMatch http://identifiers.org/mesh/C567626 property_value: exactMatch http://identifiers.org/snomedct/717973004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2749873 property_value: exactMatch https://omim.org/entry/611936 property_value: exactMatch Orphanet:251038 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10360/chromosome-3q29-microduplication-syndrome xsd:anyURI {source="GARD:0010360"} [Term] id: MONDO:0012766 name: hereditary spastic paraplegia 37 def: "Autosomal dominant spastic paraplegia type 37 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients." [Orphanet:171612] subset: ordo_disease {source="Orphanet:171612"} synonym: "autosomal dominant spastic paraplegia 37" EXACT [DOID:0110788] synonym: "autosomal dominant spastic paraplegia type 37" EXACT [DOID:0110788] synonym: "hereditary spastic paraplegia type 37" EXACT [DOID:0110788, MONDORULE:2] synonym: "spastic paraplegia 37, autosomal dominant" RELATED [MONDO:Lexical, OMIM:611945] synonym: "SPG37" EXACT ABBREVIATION [DOID:0110788, MONDO:Lexical, OMIM:611945, Orphanet:171612] xref: DOID:0110788 {source="MONDO:equivalentTo"} xref: MESH:C567931 {source="MONDO:equivalentTo"} xref: OMIM:611945 {source="DOID:0110788", source="Orphanet:171612/e", source="MONDO:equivalentTo", source="Orphanet:171612"} xref: Orphanet:171612 {source="DOID:0110788", source="MONDO:equivalentTo", source="OMIM:611945"} xref: SCTID:763369007 {source="MONDO:equivalentTo"} xref: UMLS:C2936880 {source="Orphanet:171612/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:611945", source="Orphanet:171612"} is_a: MONDO:0015088 {source="Orphanet:171612"} ! autosomal dominant pure spastic paraplegia property_value: exactMatch DOID:0110788 property_value: exactMatch http://identifiers.org/mesh/C567931 property_value: exactMatch http://identifiers.org/snomedct/763369007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2936880 property_value: exactMatch https://omim.org/entry/611945 property_value: exactMatch Orphanet:171612 [Term] id: MONDO:0012774 name: chromosome 15q13.3 microdeletion syndrome def: "15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features." [Orphanet:199318] subset: ordo_malformation_syndrome {source="Orphanet:199318"} synonym: "15q13.3 microdeletion" RELATED [GARD:0010296] synonym: "15q13.3 microdeletion syndrome" EXACT [DOID:0060394] synonym: "chromosome 15q13.3 deletion syndrome" RELATED [OMIM:612001] synonym: "chromosome 15q13.3 microdeletion syndrome" EXACT [OMIM:612001] synonym: "Del(15)(q13.3)" EXACT [Orphanet:199318] synonym: "microdeletion 15q13.3 syndrome" RELATED [GARD:0010296] synonym: "monosomy 15q13.3" EXACT [Orphanet:199318] xref: DECIPHER:74 {source="MONDO:equivalentTo"} xref: DOID:0060394 {source="MONDO:equivalentTo"} xref: MESH:C567439 {source="MONDO:equivalentTo", source="DOID:0060394"} xref: OMIM:612001 {source="Orphanet:199318/e", source="MONDO:equivalentTo", source="Orphanet:199318", source="DOID:0060394"} xref: Orphanet:199318 {source="OMIM:612001", source="MONDO:equivalentTo", source="DOID:0060394"} xref: SCTID:699254009 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:199318"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0016913 {source="Orphanet:199318"} ! partial deletion of the long arm of chromosome 15 property_value: exactMatch DOID:0060394 property_value: exactMatch http://identifiers.org/mesh/C567439 property_value: exactMatch http://identifiers.org/snomedct/699254009 property_value: exactMatch https://omim.org/entry/612001 property_value: exactMatch Orphanet:199318 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:199318"} property_value: excluded_subClassOf MONDO:0005027 {source="MONDO:0015652-obsoleted", source="MONDO:Redundant", source="MONDO:indirect"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0012783 name: RFT1-congenital disorder of glycosylation def: "RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1)." [Orphanet:244310] subset: ordo_disease {source="Orphanet:244310"} synonym: "carbohydrate deficient glycoprotein syndrome type In" EXACT [Orphanet:244310] synonym: "CDG in" RELATED [OMIM:612015] synonym: "CDG syndrome type In" EXACT [Orphanet:244310] synonym: "CDG-In" EXACT [Orphanet:244310] synonym: "CDG1N" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612015, Orphanet:244310] synonym: "CDGIN" RELATED ABBREVIATION [GARD:0012394] synonym: "congenital disorder of glycosylation type 1n" EXACT [Orphanet:244310] synonym: "congenital disorder of glycosylation type In" EXACT [Orphanet:244310] synonym: "congenital disorder of glycosylation, type In" RELATED [MONDO:Lexical, OMIM:612015] synonym: "Man5GlcNAc2-PP-Dol flippase deficiency" EXACT [Orphanet:244310] synonym: "RFT1-CDG" EXACT ABBREVIATION [Orphanet:244310] synonym: "RFT1-CDG (CDG-In)" RELATED [GARD:0012394] synonym: "RFT1-congenital disorder of glycosylation" EXACT [] xref: DOID:0080566 {source="MONDO:equivalentTo"} xref: MESH:C567437 {source="MONDO:equivalentTo"} xref: OMIM:612015 {source="Orphanet:244310", source="MONDO:equivalentTo", source="Orphanet:244310/e"} xref: Orphanet:244310 {source="OMIM:612015", source="MONDO:equivalentTo"} xref: SCTID:733084000 {source="MONDO:equivalentTo"} xref: UMLS:C2677590 {source="Orphanet:244310", source="OMIM:612015", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0005545 {source="DC-OMIM:612015"} ! congenital disorder of glycosylation type I is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0017740 {source="Orphanet:244310"} ! disorder of protein N-glycosylation relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch DOID:0080566 property_value: exactMatch http://identifiers.org/mesh/C567437 property_value: exactMatch http://identifiers.org/snomedct/733084000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677590 property_value: exactMatch https://omim.org/entry/612015 property_value: exactMatch Orphanet:244310 [Term] id: MONDO:0012784 name: autosomal recessive ataxia due to ubiquinone deficiency def: "This syndrome is characterized by childhood-onset progressive ataxia and cerebellar atrophy." [Orphanet:139485] subset: ordo_disease {source="Orphanet:139485"} synonym: "ARCA2" EXACT ABBREVIATION [Orphanet:139485] synonym: "autosomal recessive ataxia due to coenzyme Q10 deficiency" EXACT [Orphanet:139485] synonym: "autosomal recessive cerebellar ataxia type 2" EXACT [Orphanet:139485] synonym: "autosomal recessive spinocerebellar ataxia 9" RELATED [GARD:0010294] synonym: "autosomal recessive spinocerebellar ataxia type 9" EXACT [Orphanet:139485] synonym: "coenzyme Q10 deficiency, primary, 4" RELATED [MONDO:Lexical, OMIM:612016] synonym: "coenzyme Q10 deficiency, primary, type 4" EXACT [MONDORULE:1, OMIM:612016] synonym: "COQ10D4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612016] synonym: "SCAR9" EXACT ABBREVIATION [Orphanet:139485] synonym: "spinocerebellar ataxia, autosomal recessive 9" RELATED [OMIM:612016] xref: DOID:0070241 {source="MONDO:equivalentTo"} xref: MESH:C567436 {source="MONDO:equivalentTo"} xref: OMIM:612016 {source="Orphanet:139485/e", source="MONDO:equivalentTo", source="Orphanet:139485"} xref: Orphanet:139485 {source="OMIM:612016", source="MONDO:equivalentTo"} xref: SCTID:725394006 {source="MONDO:equivalentTo"} xref: UMLS:C2677589 {source="OMIM:612016", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:139485"} xref: UMLS:C4511089 {source="MONDO:equivalentTo"} is_a: MONDO:0015244 {source="Orphanet:139485"} ! autosomal recessive cerebellar ataxia is_a: MONDO:0018151 {source="DC-OMIM:612016", source="OMIM:612016", source="Orphanet:139485"} ! coenzyme Q10 deficiency intersection_of: MONDO:0015244 ! autosomal recessive cerebellar ataxia intersection_of: MONDO:0018151 ! coenzyme Q10 deficiency property_value: exactMatch DOID:0070241 property_value: exactMatch http://identifiers.org/mesh/C567436 property_value: exactMatch http://identifiers.org/snomedct/725394006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677589 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4511089 property_value: exactMatch https://omim.org/entry/612016 property_value: exactMatch Orphanet:139485 [Term] id: MONDO:0012786 name: juvenile cataract-microcornea-renal glucosuria syndrome def: "Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects." [Orphanet:247794] subset: ordo_disease {source="Orphanet:247794"} synonym: "cataract 47" RELATED [OMIM:612018] synonym: "cataract 47, juvenile, with microcornea" EXACT [OMIM:612018, OMIM:genemap2] synonym: "cataract, juvenile, with microcornea" RELATED [OMIM:612018] synonym: "cataract, juvenile, with microcornea and glucosuria" RELATED [MONDO:Lexical, OMIM:612018] synonym: "cataract, juvenile, with microcornea and glucosuria, formerly" RELATED [OMIM:612018] synonym: "CJMG" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612018] synonym: "CTRCT47" RELATED ABBREVIATION [OMIM:612018] synonym: "juvenile cataract-microcornea-renal glucosuria syndrome" EXACT [] xref: DOID:0070353 {source="MONDO:equivalentTo"} xref: MESH:C567434 {source="MONDO:equivalentTo"} xref: OMIM:612018 {source="Orphanet:247794/e", source="MONDO:equivalentTo", source="Orphanet:247794"} xref: Orphanet:247794 {source="MONDO:equivalentTo", source="OMIM:612018"} xref: SCTID:722457005 {source="MONDO:equivalentTo"} xref: UMLS:C2677587 {source="MONDO:equivalentTo", source="OMIM:612018", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0017706 {source="Orphanet:247794"} ! disorder of carbohydrate transmembrane transport and absorption property_value: exactMatch DOID:0070353 property_value: exactMatch http://identifiers.org/mesh/C567434 property_value: exactMatch http://identifiers.org/snomedct/722457005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677587 property_value: exactMatch https://omim.org/entry/612018 property_value: exactMatch Orphanet:247794 property_value: excluded_subClassOf MONDO:0019743 {source="Orphanet:247794"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012787 name: hereditary spastic paraplegia 39 def: "This syndrome is characterized by progressive spastic paraplegia and distal muscle wasting." [Orphanet:139480] subset: ordo_disease {source="Orphanet:139480"} synonym: "autosomal recessive spastic paraplegia 39" EXACT [DOID:0110790] synonym: "autosomal recessive spastic paraplegia type 39" EXACT [DOID:0110790] synonym: "hereditary spastic paraplegia caused by mutation in PNPLA6" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 39" EXACT [DOID:0110790, MONDORULE:2] synonym: "NTE related motor neuron disorder" RELATED [GARD:0004924] synonym: "NTE-related motor neuron disorder" EXACT [DOID:0110790, OMIM:612020] synonym: "NTEMND" EXACT ABBREVIATION [DOID:0110790] synonym: "PNPLA6 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "spastic paraplegia 39" RELATED [GARD:0004924] synonym: "spastic paraplegia 39, autosomal recessive" RELATED [MONDO:Lexical, OMIM:612020] synonym: "spastic paraplegia due to neuropathy target esterase mutation" EXACT [DOID:0110790, Orphanet:139480] synonym: "spastic paraplegia due to NTE mutation" EXACT [DOID:0110790, Orphanet:139480] synonym: "SPG39" EXACT ABBREVIATION [DOID:0110790, MONDO:Lexical, OMIM:612020, Orphanet:139480] xref: DOID:0110790 {source="MONDO:equivalentTo"} xref: MESH:C567433 {source="MONDO:equivalentTo"} xref: OMIM:612020 {source="MONDO:equivalentTo", source="Orphanet:139480", source="DOID:0110790", source="Orphanet:139480/e"} xref: Orphanet:139480 {source="MONDO:equivalentTo", source="DOID:0110790", source="OMIM:612020"} xref: SCTID:719103009 {source="MONDO:equivalentTo"} xref: UMLS:C2677586 {source="MONDO:equivalentTo", source="Orphanet:139480", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612020"} xref: UMLS:C4304963 {source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:139480"} ! autosomal recessive complex spastic paraplegia is_a: MONDO:0015905 ! syndromic dyslipidemia is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis property_value: exactMatch DOID:0110790 property_value: exactMatch http://identifiers.org/mesh/C567433 property_value: exactMatch http://identifiers.org/snomedct/719103009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677586 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304963 property_value: exactMatch https://omim.org/entry/612020 property_value: exactMatch Orphanet:139480 [Term] id: MONDO:0012789 name: dystonia 16 def: "Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism." [Orphanet:210571] subset: gard_rare {source="GARD:0010539"} subset: ordo_disease {source="Orphanet:210571"} synonym: "dystonia 16" EXACT [MONDO:Lexical, OMIM:612067] synonym: "dystonia type 16" EXACT [DOID:0090048, MONDORULE:2, OMIM:612067, Orphanet:210571] synonym: "dystonic disorder caused by mutation in PRKRA" EXACT [MONDO:design_pattern] synonym: "DYT-PRKRA" EXACT [PMID:18243799] synonym: "DYT16" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612067, Orphanet:210571] synonym: "early-onset dystonia parkinsonism" EXACT [Orphanet:210571] synonym: "PRKRA dystonic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Young-onset dystonia-(parkinsonism)" RELATED [GARD:0010539] xref: DOID:0090048 {source="MONDO:equivalentTo"} xref: MESH:C567430 {source="MONDO:equivalentTo"} xref: NCIT:C168729 {source="MONDO:equivalentTo"} xref: OMIM:612067 {source="Orphanet:210571", source="MONDO:equivalentTo", source="Orphanet:210571/e", source="DOID:0090048"} xref: Orphanet:210571 {source="OMIM:612067", source="MONDO:equivalentTo", source="DOID:0090048"} xref: SCTID:722435003 {source="MONDO:equivalentTo"} xref: UMLS:C2677567 {source="OMIM:612067", source="Orphanet:210571", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000478 {source="DOID:0090048"} ! multifocal dystonia is_a: MONDO:0018329 {source="Orphanet:210571"} ! persistent combined dystonia is_a: MONDO:0021095 {source="MONDO:0017661-obsoleted"} ! parkinsonian disorder property_value: exactMatch DOID:0090048 property_value: exactMatch http://identifiers.org/mesh/C567430 property_value: exactMatch http://identifiers.org/snomedct/722435003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677567 property_value: exactMatch https://omim.org/entry/612067 property_value: exactMatch NCIT:C168729 property_value: exactMatch Orphanet:210571 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10539/dystonia-16 xsd:anyURI {source="GARD:0010539"} [Term] id: MONDO:0012791 name: mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria def: "Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA." [Orphanet:1933] subset: gard_rare subset: ordo_disease {source="Orphanet:1933"} synonym: "booth-Haworth-Dilling syndrome" EXACT [Orphanet:1933] synonym: "encephalomyopathy" RELATED [GARD:0003681] synonym: "mitochondrial DNA depletion syndrome 5" EXACT [DOID:0080124] synonym: "mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)" RELATED [MONDO:Lexical, OMIM:612073] synonym: "mitochondrial DNA depletion syndrome type 5" EXACT [DOID:0080124, MONDORULE:1] synonym: "mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive" RELATED [GARD:0003681] synonym: "mitochondrial DNA depletion syndrome, encephalomyopathic form, with or without methylmalonic aciduria, autosomal recessive, Sucla2-related" RELATED [OMIM:612073] synonym: "mitochondrial encephalomyopathy aminoacidopathy" RELATED [GARD:0003681] synonym: "mitochondrial encephalomyopathy-aminoacidopathy syndrome" EXACT [Orphanet:1933] synonym: "mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria" EXACT [Orphanet:1933] synonym: "MTDPS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612073] xref: DOID:0080124 {source="MONDO:equivalentTo"} xref: MESH:C567624 {source="MONDO:equivalentTo"} xref: OMIM:612073 {source="Orphanet:1933/e", source="MONDO:equivalentTo", source="DOID:0080124", source="Orphanet:1933", source="GARD:0003681"} xref: Orphanet:1933 {source="MONDO:equivalentTo", source="GARD:0003681", source="OMIM:612073"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease is_a: MONDO:0016796 {source="Orphanet:1933"} ! mitochondrial DNA depletion syndrome, encephalomyopathic form property_value: exactMatch DOID:0080124 property_value: exactMatch http://identifiers.org/mesh/C567624 property_value: exactMatch https://omim.org/entry/612073 property_value: exactMatch Orphanet:1933 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3681/encephalomyopathy xsd:anyURI {source="GARD:0003681"} [Term] id: MONDO:0012792 name: mitochondrial DNA depletion syndrome 8a def: "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:255235"} synonym: "encephalomyopathic type with renal tubulopathy" RELATED [GARD:0013200] synonym: "mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)" RELATED [MONDO:Lexical, OMIM:612075] synonym: "mitochondrial DNA depletion syndrome 8B (Mngie type)" RELATED [OMIM:612075] synonym: "mitochondrial DNA depletion syndrome caused by mutation in RRM2B" EXACT [MONDO:design_pattern] synonym: "mitochondrial DNA depletion syndrome type 8a" EXACT [DOID:0080127, MONDORULE:4] synonym: "mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy" RELATED [Orphanet:255235] synonym: "mitochondrial DNA depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive" RELATED [OMIM:612075] synonym: "mitochondrial neurogastrointestinal encephalopathy syndrome, Rrm2B-related" RELATED [OMIM:612075] synonym: "Mngie, Rrm2B-related" RELATED [OMIM:612075] synonym: "mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy" EXACT [Orphanet:255235] synonym: "MTDPS8A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612075] synonym: "RRM2B mitochondrial DNA depletion syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "RRM2B-related mitochondrial DNA depletion syndrome" RELATED [GARD:0013200] xref: DOID:0070331 {source="MONDO:equivalentTo"} xref: DOID:0080127 {source="MONDO:equivalentTo"} xref: OMIM:612075 {source="Orphanet:255235", source="MONDO:equivalentTo", source="DOID:0080127", source="Orphanet:255235/e"} xref: Orphanet:255235 {source="MONDO:equivalentTo", source="OMIM:612075"} xref: Orphanet:298 {source="MONDO:relatedTo", source="OMIM:612075"} xref: SCTID:765100000 {source="MONDO:equivalentTo"} is_a: MONDO:0016796 {source="Orphanet:255235"} ! mitochondrial DNA depletion syndrome, encephalomyopathic form property_value: exactMatch DOID:0070331 property_value: exactMatch DOID:0080127 property_value: exactMatch http://identifiers.org/snomedct/765100000 property_value: exactMatch https://omim.org/entry/612075 property_value: exactMatch Orphanet:255235 [Term] id: MONDO:0012793 name: hypouricemia, renal, 2 synonym: "gout susceptibility 2" RELATED [OMIM:612076] synonym: "hypouricemia, renal, 2" EXACT [MONDO:Lexical, OMIM:612076] synonym: "hypouricemia, renal, type 2" EXACT [MONDORULE:1, OMIM:612076] synonym: "RHUC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612076] synonym: "uric acid concentration, serum, QTL 2" EXACT [OMIM:612076, OMIM:genemap2] synonym: "uric acid concentration, serum, quantitative trait locus 2" RELATED [OMIM:612076] xref: MESH:C567426 {source="MONDO:equivalentTo"} xref: OMIM:612076 {source="MONDO:equivalentTo"} xref: UMLS:C2677549 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612076"} is_a: MONDO:0009071 {source="MONDO:Redundant", source="Orphanet:94088/btnt"} ! hereditary renal hypouricemia property_value: exactMatch http://identifiers.org/mesh/C567426 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677549 property_value: exactMatch https://omim.org/entry/612076 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012794 name: ANE syndrome def: "ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis." [Orphanet:157954] subset: ordo_disease {source="Orphanet:157954"} synonym: "alopecia, neurologic defects, and endocrinopathy syndrome" RELATED [MONDO:Lexical, OMIM:612079] synonym: "alopecia-progressive neurological defect-endocrinopathy syndrome" EXACT [Orphanet:157954] synonym: "ANE syndrome" EXACT [OMIM:612079] synonym: "anes" RELATED [MONDO:Lexical, OMIM:612079] xref: DOID:0112244 {source="MONDO:equivalentTo"} xref: MESH:C567425 {source="MONDO:equivalentTo"} xref: OMIM:612079 {source="MONDO:equivalentTo", source="Orphanet:157954", source="Orphanet:157954/e"} xref: Orphanet:157954 {source="OMIM:612079", source="MONDO:equivalentTo"} xref: UMLS:C2677535 {source="OMIM:612079", source="MONDO:equivalentTo", source="Orphanet:157954", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism is_a: MONDO:0018762 ! non-acquired combined pituitary hormone deficiency is_a: MONDO:0021034 {source="Orphanet:157954"} ! hereditary alopecia property_value: exactMatch DOID:0112244 property_value: exactMatch http://identifiers.org/mesh/C567425 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677535 property_value: exactMatch https://omim.org/entry/612079 property_value: exactMatch Orphanet:157954 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:157954"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0012799 name: hypertrophic cardiomyopathy 11 def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "ACTC1 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "cardiomyopathy familial hypertrophic 11" EXACT [DOID:0110317] synonym: "cardiomyopathy, familial hypertrophic, 11" RELATED [MONDO:Lexical, OMIM:612098] synonym: "cardiomyopathy, familial hypertrophic, type 11" EXACT [MONDORULE:2, OMIM:612098] synonym: "cardiomyopathy, hypertrophic, 11" EXACT [OMIM:612098, OMIM:genemap2] synonym: "CMH11" EXACT ABBREVIATION [DOID:0110317, MONDO:Lexical, OMIM:612098] synonym: "hypertrophic cardiomyopathy 11" EXACT [] synonym: "hypertrophic cardiomyopathy caused by mutation in ACTC1" EXACT [MONDO:design_pattern] synonym: "hypertrophic cardiomyopathy type 11" EXACT [DOID:0110317, MONDORULE:2] xref: DOID:0110317 {source="MONDO:equivalentTo"} xref: MESH:C567419 {source="MONDO:equivalentTo"} xref: OMIM:612098 {source="DOID:0110317", source="MONDO:equivalentTo"} xref: UMLS:C2677506 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612098"} is_a: MONDO:0024573 {source="MESH:C567419", source="MONDO:OMIM", source="OMIM:612098"} ! familial hypertrophic cardiomyopathy property_value: exactMatch DOID:0110317 property_value: exactMatch http://identifiers.org/mesh/C567419 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677506 property_value: exactMatch https://omim.org/entry/612098 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012802 name: oculoauricular syndrome def: "Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy), and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus, and lobule aplasia)." [Orphanet:157962] subset: ordo_malformation_syndrome {source="Orphanet:157962"} synonym: "microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, Rod-cone dystrophy, and anomalies of the external Ear" RELATED [OMIM:612109] synonym: "OCACS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612109] synonym: "oculoauricular syndrome" EXACT [MONDO:Lexical, OMIM:612109] synonym: "oculoauricular syndrome, Schorderet type" RELATED [Orphanet:157962] synonym: "Schorderet-Munier-Franceschetti syndrome" RELATED [OMIM:612109] xref: DOID:0060482 {source="MONDO:equivalentTo"} xref: MESH:C567416 {source="MONDO:equivalentTo", source="DOID:0060482"} xref: OMIM:612109 {source="Orphanet:157962", source="MONDO:equivalentTo", source="Orphanet:157962/e", source="DOID:0060482"} xref: Orphanet:157962 {source="MONDO:equivalentTo", source="OMIM:612109", source="DOID:0060482"} xref: UMLS:C2677500 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612109"} is_a: MONDO:0016073 {source="Orphanet:157962"} ! syndromic microphthalmia property_value: exactMatch DOID:0060482 property_value: exactMatch http://identifiers.org/mesh/C567416 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677500 property_value: exactMatch https://omim.org/entry/612109 property_value: exactMatch Orphanet:157962 [Term] id: MONDO:0012803 name: diarrhea-vomiting due to trehalase deficiency def: "This syndrome is characterized by diarrhea and vomiting after ingestion of trehalose, a disaccharide found mainly in mushrooms." [Orphanet:103909] subset: ordo_disease {source="Orphanet:103909"} synonym: "isolated trehalose intolerance" EXACT [Orphanet:103909] synonym: "trehalase deficiency" RELATED [OMIM:612119] synonym: "trehalose intolerance" RELATED [OMIM:612119] xref: ICD9:271.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562603 {source="MONDO:equivalentTo"} xref: OMIM:612119 {source="Orphanet:103909", source="MONDO:equivalentTo", source="Orphanet:103909/e"} xref: Orphanet:103909 {source="MONDO:equivalentTo", source="OMIM:612119"} xref: SCTID:84193000 {source="MONDO:equivalentTo"} xref: UMLS:C0268187 {source="Orphanet:103909", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612119"} is_a: MONDO:0017706 {source="Orphanet:103909", source="PMID:33340416"} ! disorder of carbohydrate transmembrane transport and absorption property_value: exactMatch http://identifiers.org/mesh/C562603 property_value: exactMatch http://identifiers.org/snomedct/84193000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268187 property_value: exactMatch https://omim.org/entry/612119 property_value: exactMatch Orphanet:103909 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0012804 name: hypertrophic cardiomyopathy 12 def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene." [MONDO:patterns/disease_series_by_gene] synonym: "cardiomyopathy familial hypertrophic 12" EXACT [DOID:0110318] synonym: "cardiomyopathy, familial hypertrophic, 12" RELATED [MONDO:Lexical, OMIM:612124] synonym: "cardiomyopathy, familial hypertrophic, type 12" EXACT [MONDORULE:2, OMIM:612124] synonym: "cardiomyopathy, hypertrophic, 12" EXACT [OMIM:612124, OMIM:genemap2] synonym: "CMH12" EXACT ABBREVIATION [DOID:0110318, MONDO:Lexical, OMIM:612124] synonym: "CSRP3 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hypertrophic cardiomyopathy 12" EXACT [] synonym: "hypertrophic cardiomyopathy caused by mutation in CSRP3" EXACT [MONDO:design_pattern] synonym: "hypertrophic cardiomyopathy type 12" EXACT [DOID:0110318, MONDORULE:2] xref: DOID:0110318 {source="MONDO:equivalentTo"} xref: OMIM:612124 {source="DOID:0110318", source="MONDO:equivalentTo"} xref: UMLS:C2677491 {source="OMIM:612124", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0024573 {source="MONDO:OMIM", source="OMIM:612124"} ! familial hypertrophic cardiomyopathy property_value: exactMatch DOID:0110318 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677491 property_value: exactMatch https://omim.org/entry/612124 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012805 name: childhood onset GLUT1 deficiency syndrome 2 def: "A form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities." [Orphanet:98811] subset: ordo_disease {source="Orphanet:98811"} synonym: "childhood onset GLUT1 deficiency syndrome 2" EXACT [] synonym: "childhood onset GLUT1 deficiency syndrome type 2" EXACT [DOID:0090045, MONDORULE:1] synonym: "dystonia 18" EXACT [OMIM:612126, Orphanet:98811] synonym: "DYT-SLC2A1" RELATED [GARD:0010541] synonym: "DYT18" EXACT ABBREVIATION [Orphanet:98811] synonym: "GLUT1 deficiency syndrome 2" RELATED [MONDO:Lexical, OMIM:612126] synonym: "GLUT1 deficiency syndrome 2, childhood onset" EXACT [OMIM:612126, OMIM:genemap2] synonym: "GLUT1 deficiency syndrome type 2" EXACT [MONDORULE:1, OMIM:612126] synonym: "GLUT1DS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612126] synonym: "paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic Anaemia" RELATED OMO:0003005 [] synonym: "paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic Anemia" RELATED [OMIM:612126] synonym: "paroxysmal exercise-induced dystonia" EXACT [PMID:26598494] synonym: "paroxysmal exertion-induced dyskinesia" RELATED [Orphanet:98811] synonym: "paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic Anaemia" RELATED OMO:0003005 [] synonym: "paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic Anemia" RELATED [OMIM:612126] synonym: "ped" EXACT [Orphanet:98811] synonym: "ped with or without epilepsy and/or hemolytic Anaemia" RELATED OMO:0003005 [] synonym: "ped with or without epilepsy and/or hemolytic Anemia" RELATED [OMIM:612126] synonym: "PxMD-SLC2A1" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/] xref: DOID:0090045 {source="MONDO:equivalentTo"} xref: MESH:C564288 {source="MONDO:equivalentTo"} xref: OMIM:612126 {source="DOID:0090045", source="Orphanet:98811", source="MONDO:equivalentTo", source="Orphanet:98811/e"} xref: Orphanet:98811 {source="DOID:0090045", source="OMIM:612126", source="MONDO:equivalentTo"} xref: SCTID:724072002 {source="MONDO:equivalentTo"} xref: UMLS:C1842534 {source="OMIM:612126", source="Orphanet:98811", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000188 {source="DC-OMIM:612126", source="OMIM:612126"} ! GLUT1 deficiency syndrome is_a: MONDO:0015427 {source="Orphanet:98811"} ! paroxysmal dyskinesia property_value: exactMatch DOID:0090045 property_value: exactMatch http://identifiers.org/mesh/C564288 property_value: exactMatch http://identifiers.org/snomedct/724072002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842534 property_value: exactMatch https://omim.org/entry/612126 property_value: exactMatch Orphanet:98811 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0012806 name: ectodermal dysplasia and immunodeficiency 2 synonym: "ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant" EXACT [OMIM:612132] synonym: "EPAID2" EXACT ABBREVIATION [OMIM:612132] xref: DOID:0081079 {source="MONDO:equivalentTo"} xref: MESH:C567411 {source="MONDO:equivalentTo"} xref: NCIT:C176826 {source="MONDO:equivalentTo"} xref: OMIM:612132 {source="MONDO:equivalentTo"} xref: UMLS:C2677481 {source="OMIM:612132", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0010293 {source="Orphanet:98813/btnt"} ! ectodermal dysplasia and immune deficiency property_value: exactMatch DOID:0081079 property_value: exactMatch http://identifiers.org/mesh/C567411 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677481 property_value: exactMatch https://omim.org/entry/612132 property_value: exactMatch NCIT:C176826 [Term] id: MONDO:0012807 name: epidermolysis bullosa simplex 5C, with pyloric atresia def: "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia." [https://orcid.org/0000-0001-5208-3432, Orphanet:158684] subset: ordo_disease {source="Orphanet:158684"} synonym: "EBS with pyloric atresia" RELATED [OMIM:612138] synonym: "EBS-PA" EXACT [Orphanet:158684] synonym: "EBSPA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612138] synonym: "epidermolysis bullosa simplex 5C, with pyloric atresia" EXACT [OMIM:612138, OMIM:genemap2] synonym: "epidermolysis bullosa simplex with pyloric atresia" EXACT [MONDO:Lexical, OMIM:612138] xref: MESH:C567408 {source="MONDO:equivalentTo"} xref: OMIM:612138 {source="Orphanet:158684", source="MONDO:equivalentTo", source="Orphanet:158684/e"} xref: Orphanet:158684 {source="MONDO:equivalentTo", source="OMIM:612138"} xref: SCTID:716701004 {source="MONDO:equivalentTo"} xref: UMLS:C2677349 {source="Orphanet:158684", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612138"} is_a: MONDO:0017610 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex property_value: exactMatch http://identifiers.org/mesh/C567408 property_value: exactMatch http://identifiers.org/snomedct/716701004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677349 property_value: exactMatch https://omim.org/entry/612138 property_value: exactMatch Orphanet:158684 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4499 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012815 name: Coats plus syndrome def: "Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease." [Orphanet:313838] subset: ordo_disease {source="Orphanet:313838"} synonym: "cerebroretinal microangiopathy with calcfications and cysts" EXACT [OMIMPS:612199] synonym: "cerebroretinal microangiopathy with calcifications and cysts" EXACT [MONDO:Lexical, OMIM:612199, Orphanet:313838] synonym: "CRMCC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612199, Orphanet:313838] xref: ICD9:348.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C567401 {source="MONDO:equivalentTo"} xref: OMIMPS:612199 {source="MONDO:equivalentTo"} xref: Orphanet:313838 {source="OMIM:612199", source="MONDO:equivalentTo"} xref: SCTID:711482008 {source="MONDO:equivalentTo"} xref: UMLS:CN282828 {source="MONDO:equivalentTo"} is_a: MONDO:0020247 {source="Orphanet:313838"} ! congenital vitreoretinal dysplasia is_a: MONDO:0100137 {source="PMID:29804726"} ! telomere syndrome property_value: exactMatch http://identifiers.org/mesh/C567401 property_value: exactMatch http://identifiers.org/snomedct/711482008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN282828 property_value: exactMatch https://omim.org/phenotypicSeries/PS612199 property_value: exactMatch Orphanet:313838 [Term] id: MONDO:0012824 name: hypomyelinating leukodystrophy 4 def: "Any leukodystrophy in which the cause of the disease is a mutation in the HSPD1 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_clinical_subtype {source="Orphanet:280288"} synonym: "HLD4" EXACT ABBREVIATION [DOID:0060789, MONDO:Lexical, OMIM:612233] synonym: "HSPD1 leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hypomyelinating leukodystrophy type 4" EXACT [DOID:0060789, MONDORULE:1] synonym: "leukodystrophy caused by mutation in HSPD1" EXACT [MONDO:design_pattern] synonym: "leukodystrophy, hypomyelinating, 4" RELATED [MONDO:Lexical, OMIM:612233] synonym: "leukodystrophy, hypomyelinating, type 4" EXACT [MONDORULE:1, OMIM:612233] synonym: "MitCHAP60 disease" EXACT [DOID:0060789] synonym: "Mitchap60 disease" RELATED [OMIM:612233] synonym: "mitochondrial HSP60 chaperonopathy" EXACT [DOID:0060789, Orphanet:280288] synonym: "mitochondrial Hsp60 chaperonopathy" RELATED [OMIM:612233] synonym: "Pelizaeus-Merzbacher-like disease due to HSPD1 mutation" EXACT [DOID:0060789] xref: DOID:0060789 {source="MONDO:equivalentTo"} xref: MESH:C567390 {source="MONDO:equivalentTo"} xref: OMIM:612233 {source="Orphanet:280288/e", source="MONDO:equivalentTo", source="DOID:0060789", source="Orphanet:280288"} xref: Orphanet:280288 {source="OMIM:612233", source="MONDO:equivalentTo", source="DOID:0060789"} xref: UMLS:C2677109 {source="OMIM:612233", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0017226 {source="Orphanet:280288"} ! Pelizaeus-Merzbacher-like disease property_value: exactMatch DOID:0060789 property_value: exactMatch http://identifiers.org/mesh/C567390 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677109 property_value: exactMatch https://omim.org/entry/612233 property_value: exactMatch Orphanet:280288 [Term] id: MONDO:0012825 name: extraskeletal myxoid chondrosarcoma def: "A rare malignant soft tissue neoplasm of uncertain differentiation, characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. The most common sites of involvement are the deep soft tissues of the extremities, particularly the thigh. It usually presents as an enlarging soft tissue mass. Patients may have long survivals, but local recurrences and metastases occur in approximately half of the cases. The most common site of metastasis is the lungs." [NCIT:P378] subset: ordo_disease {source="Orphanet:209916"} synonym: "chondrosarcoma, extraskeletal myxoid" RELATED [OMIM:612237] synonym: "EMC" RELATED ABBREVIATION [OMIM:612237] synonym: "extraosseous chondrosarcoma" EXACT [NCIT:C27502] synonym: "extraskeletal chondrosarcoma" EXACT [NCIT:C27502] synonym: "myxoid extraosseous chondrosarcoma" EXACT [DOID:6496, NCIT:C27502] synonym: "myxoid extraskeletal chondrosarcoma" EXACT [NCIT:C27502] xref: DOID:6496 {source="MONDO:equivalentObsolete"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563195 {source="MONDO:equivalentTo", source="DOID:6496"} xref: NCIT:C27502 {source="MONDO:equivalentTo", source="DOID:6496"} xref: OMIM:612237 {source="Orphanet:209916", source="MONDO:equivalentTo", source="Orphanet:209916/e", source="DOID:6496"} xref: ONCOTREE:EMCHS {source="MONDO:equivalentTo"} xref: Orphanet:209916 {source="MONDO:equivalentTo", source="OMIM:612237"} xref: SCTID:404079008 {source="MONDO:equivalentTo", source="DOID:6496"} xref: UMLS:C1275278 {source="Orphanet:209916", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612237", source="NCIT:C27502", source="Orphanet:209916/e", source="DOID:6496"} is_a: EFO:1001968 {source="NCIT:C27502", source="Orphanet:209916"} ! soft tissue sarcoma property_value: exactMatch http://identifiers.org/mesh/C563195 property_value: exactMatch http://identifiers.org/snomedct/404079008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275278 property_value: exactMatch https://omim.org/entry/612237 property_value: exactMatch NCIT:C27502 property_value: exactMatch Orphanet:209916 [Term] id: MONDO:0012830 name: chromosome 10q23 deletion syndrome def: "10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive." [Orphanet:276413] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:276413"} synonym: "10q22.3q23 microdeletion syndrome" RELATED [GARD:0013018] synonym: "10q22.3q23.3 microdeletion syndrome" RELATED [Orphanet:276413] synonym: "chromosome 10Q22.3-q23.2 deletion syndrome" RELATED [OMIM:612242] synonym: "chromosome 10q22.3-q23.2 deletion syndrome" RELATED [OMIM:612242] synonym: "chromosome 10q23 deletion syndrome" EXACT [OMIM:612242] synonym: "Del(10)(q22.3q23.3)" EXACT [Orphanet:276413] synonym: "deletion 10q22.3q23.3" EXACT [Orphanet:276413] synonym: "juvenile polyposis of infancy" RELATED [OMIM:612242] synonym: "juvenile polyposis, infantile" RELATED [OMIM:612242] synonym: "monosomy 10q22.3q23.3" EXACT [GARD:0013018, Orphanet:276413] xref: DOID:0060389 {source="MONDO:equivalentTo"} xref: MESH:C567385 {source="DOID:0060389", source="MONDO:equivalentTo"} xref: OMIM:612242 {source="DOID:0060389", source="MONDO:equivalentTo", source="Orphanet:276413", source="Orphanet:276413/e"} xref: Orphanet:276413 {source="MONDO:equivalentTo"} xref: Orphanet:2929 {source="OMIM:612242", source="MONDO:relatedTo"} xref: Orphanet:79076 {source="OMIM:612242", source="MONDO:relatedTo"} xref: UMLS:C2677102 {source="OMIM:612242", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:CN202618 {source="MONDO:equivalentTo"} is_a: MONDO:0016909 {source="Orphanet:276413"} ! partial monosomy of the long arm of chromosome 10 property_value: exactMatch DOID:0060389 property_value: exactMatch http://identifiers.org/mesh/C567385 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677102 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202618 property_value: exactMatch https://omim.org/entry/612242 property_value: exactMatch Orphanet:276413 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0012833 name: Crouzon syndrome-acanthosis nigricans syndrome def: "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." [Orphanet:93262] subset: ordo_malformation_syndrome {source="Orphanet:93262"} synonym: "CAN" EXACT ABBREVIATION [DOID:0111161, MONDO:Lexical, OMIM:612247] synonym: "can" RELATED [OMIM:612247] synonym: "chronic allograft nephropathy" EXACT [NCIT:C38145] synonym: "Chronic kidney allograft nephropathy" EXACT [NCIT:C38145] synonym: "Crouzon syndrome with acanthosis nigricans" RELATED [MONDO:Lexical, OMIM:612247] synonym: "Crouzon-dermoskeletal syndrome" EXACT [DOID:0111161, Orphanet:93262] synonym: "Crouzonodermoskeletal syndrome" EXACT [DOID:0111161, OMIM:612247] xref: DOID:0111161 {source="MONDO:equivalentTo"} xref: MESH:C567382 {source="MONDO:equivalentTo"} xref: NCIT:C38145 {source="MONDO:equivalentTo"} xref: OMIM:612247 {source="Orphanet:93262", source="MONDO:equivalentTo", source="DOID:0111161", source="Orphanet:93262/e"} xref: Orphanet:93262 {source="OMIM:612247", source="MONDO:equivalentTo", source="DOID:0111161"} xref: SCTID:702361006 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 {source="DOID:0111161", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0015338 {source="Orphanet:93262", source="PMID:31633310"} ! syndromic craniosynostosis property_value: exactMatch DOID:0111161 property_value: exactMatch http://identifiers.org/mesh/C567382 property_value: exactMatch http://identifiers.org/snomedct/702361006 property_value: exactMatch https://omim.org/entry/612247 property_value: exactMatch NCIT:C38145 property_value: exactMatch Orphanet:93262 property_value: excluded_subClassOf MONDO:0005363 {source="NCIT:C38145"} property_value: excluded_subClassOf MONDO:0015368 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0012839 name: pyogenic bacterial infections due to MyD88 deficiency def: "Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease." [Orphanet:183713] subset: ordo_disease {source="Orphanet:183713"} synonym: "immunodeficiency 68" EXACT [OMIM:612260, OMIM:genemap2] synonym: "MyD88 deficiency" EXACT [MONDO:Lexical, OMIM:612260, Orphanet:183713] synonym: "MYD88D" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612260] synonym: "pyogenic bacterial infections, recurrent, due to MyD88 deficiency" EXACT [OMIM:612260] synonym: "recurrent pyogenic bacterial infections due to MyD88 deficiency" EXACT [OMIM:612260] xref: MESH:C567379 {source="MONDO:equivalentTo"} xref: OMIM:612260 {source="Orphanet:183713/e", source="MONDO:equivalentTo", source="Orphanet:183713"} xref: Orphanet:183713 {source="MONDO:equivalentTo", source="OMIM:612260"} xref: UMLS:C2677092 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612260", source="Orphanet:183713"} is_a: MONDO:0015979 {source="Orphanet:183713"} ! hereditary predisposition to infections property_value: exactMatch http://identifiers.org/mesh/C567379 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677092 property_value: exactMatch https://omim.org/entry/612260 property_value: exactMatch Orphanet:183713 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012853 name: Fontaine progeroid syndrome def: "A rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated." [Orphanet:2963] subset: gard_rare {source="GARD:0000066"} subset: ordo_disorder subset: ordo_malformation_syndrome {source="Orphanet:2963", source="Orphanet:2095"} synonym: "craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora" EXACT [OMIM:233500] synonym: "craniofacial dysostosis, hypertrichosis, Hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence" EXACT [OMIM:612289] synonym: "craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies" RELATED [GARD:0000066] synonym: "craniofacial dysostosis-genital, dental, cardiac anomalies syndrome" EXACT [Orphanet:2095] synonym: "cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome" EXACT [Orphanet:2095] synonym: "dental and eye anomalies, patent ductus arteriosus, and normal intelligence" EXACT [OMIM:233500] synonym: "dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome" EXACT [Orphanet:2095] synonym: "Fontaine progeroid syndrome" EXACT [OMIM:612289, Orphanet:2963] synonym: "FPS" EXACT ABBREVIATION [OMIM:612289] synonym: "GCM syndrome" EXACT [Orphanet:2095] synonym: "GCMS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:233500] synonym: "Gorlin Chaudhry Moss syndrome" EXACT [GARD:0000066] synonym: "Gorlin-Chaudhry-Moss syndrome" EXACT [MONDO:0009304, MONDO:Lexical, OMIM:233500] synonym: "Petty Laxova Wiedemann syndrome" RELATED [GARD:0004497] synonym: "Petty syndrome" EXACT [Orphanet:2963] synonym: "Petty-Laxova-Wiedemann syndrome" EXACT [Orphanet:2963] synonym: "progeroid syndrome congenital Petty type" EXACT [GARD:0004497] synonym: "progeroid syndrome Petty type" EXACT [GARD:0004497] synonym: "progeroid syndrome, congenital, Petty type" NARROW [OMIM:612289] synonym: "progeroid syndrome, Petty type" EXACT [GARD:0004497] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537290 {source="Orphanet:2095/e", source="MONDO:equivalentTo", source="Orphanet:2095"} xref: OMIM:233500 {source="Orphanet:2095/e", source="MONDO:equivalentObsolete", source="Orphanet:2095"} xref: OMIM:612289 {source="MONDO:equivalentTo", source="Orphanet:2963", source="Orphanet:2963/e"} xref: Orphanet:2095 {source="MONDO:equivalentTo", source="OMIM:233500"} xref: Orphanet:2963 {source="OMIM:612289", source="MONDO:equivalentTo"} xref: SCTID:205800003 {source="MONDO:equivalentTo"} xref: UMLS:C0345382 {source="MONDO:relatedTo", source="Orphanet:2095/e", source="MONDO:ncbi_mim2gene_medline", source="OMIM:233500", source="Orphanet:2095"} xref: UMLS:C2931653 {source="MONDO:equivalentTo", source="Orphanet:2963"} is_a: MONDO:0015161 {source="Orphanet:2095"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0019287 {source="Orphanet:2095"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C537290 property_value: exactMatch http://identifiers.org/snomedct/205800003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931653 property_value: exactMatch https://omim.org/entry/612289 property_value: exactMatch Orphanet:2095 property_value: exactMatch Orphanet:2963 property_value: excluded_subClassOf MONDO:0015333 {source="DC-OMIM:612289"} property_value: excluded_subClassOf MONDO:0019303 {source="Orphanet:2963"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1567 xsd:anyURI property_value: relatedMatch http://linkedlifedata.com/resource/umls/id/C0345382 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4497/progeroid-syndrome-petty-type xsd:anyURI {source="GARD:0004497"} [Term] id: MONDO:0012854 name: bilateral microtia-deafness-cleft palate syndrome def: "This syndrome is characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate." [Orphanet:140963] subset: ordo_malformation_syndrome {source="Orphanet:140963"} synonym: "microtia with or without hearing impairment" RELATED [OMIM:612290] synonym: "microtia with or without hearing impairment (AD)" EXACT [OMIM:612290, OMIM:genemap2] synonym: "microtia, hearing impairment, and cleft palate" RELATED [OMIM:612290] synonym: "microtia, hearing impairment, and cleft palate (AR)" EXACT [OMIM:612290, OMIM:genemap2] xref: MESH:C567359 {source="MONDO:equivalentTo"} xref: OMIM:612290 {source="Orphanet:140963/e", source="MONDO:equivalentTo", source="Orphanet:140963"} xref: Orphanet:140963 {source="MONDO:equivalentTo", source="OMIM:612290"} xref: UMLS:C2676772 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612290", source="Orphanet:140963"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C567359 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676772 property_value: exactMatch https://omim.org/entry/612290 property_value: exactMatch Orphanet:140963 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012856 name: Birk-Barel syndrome def: "Birk-Barel syndrome is an inherited condition characterized by intellectual disability, hypotonia, hyperactivity, and unusual facial features. The condition is caused by mutations in the KCNK9 gene on chromosome 8. This condition demonstrates dominant inheritance with paternal imprinting, which means that a mutation in the maternal gene will result in disease, but a mutation in the paternal gene will have no effect (imprinted with paternal silencing)." [https://rarediseases.info.nih.gov/diseases/10358/birk-barel-syndrome] subset: gard_rare {source="GARD:0010358"} subset: ordo_disease {source="Orphanet:166108"} synonym: "Birk Barel intellectual disability dysmorphism syndrome" RELATED [GARD:0010358] synonym: "Birk Barel mental retardation dysmorphism syndrome" RELATED DEPRECATED [GARD:0010358] synonym: "BIRK-Barel intellectual disability dysmorphism syndrome" EXACT [DOID:0050675, OMIM:612292] synonym: "BIRK-Barel mental retardation dysmorphism syndrome" EXACT DEPRECATED [DOID:0050675, OMIM:612292] synonym: "Birk-Barel syndrome" EXACT [OMIM:612292] synonym: "intellectual disability with hypotonia and Facial Dysmorphism" RELATED [OMIM:612292] synonym: "intellectual disability, Birk-Barel type" RELATED [Orphanet:166108] synonym: "intellectual disability-hypotonia-facial dysmorphism syndrome" EXACT [Orphanet:166108] synonym: "mental retardation with hypotonia and Facial Dysmorphism" RELATED DEPRECATED [OMIM:612292] xref: DOID:0050675 {source="MONDO:equivalentTo"} xref: MESH:C567357 {source="MONDO:equivalentTo"} xref: OMIM:612292 {source="Orphanet:166108/e", source="DOID:0050675", source="MONDO:equivalentTo", source="Orphanet:166108"} xref: Orphanet:166108 {source="MONDO:equivalentTo", source="OMIM:612292"} xref: SCTID:764861005 {source="MONDO:equivalentTo"} xref: UMLS:C2676770 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612292"} is_a: MONDO:0000426 {source="DOID:0050675", source="MONDO:Redundant"} ! autosomal dominant disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: exactMatch DOID:0050675 property_value: exactMatch http://identifiers.org/mesh/C567357 property_value: exactMatch http://identifiers.org/snomedct/764861005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676770 property_value: exactMatch https://omim.org/entry/612292 property_value: exactMatch Orphanet:166108 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:166108"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10358/birk-barel-syndrome xsd:anyURI {source="GARD:0010358"} [Term] id: MONDO:0012858 name: primary CD59 deficiency subset: ordo_disease {source="Orphanet:169464"} synonym: "CD59 deficiency" RELATED [OMIM:612300] synonym: "HACD59" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612300] synonym: "hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy" RELATED [MONDO:Lexical, OMIM:612300] synonym: "primary CD59 deficiency" EXACT [] xref: MESH:C567355 {source="MONDO:equivalentTo"} xref: OMIM:612300 {source="Orphanet:169464", source="MONDO:equivalentTo", source="Orphanet:169464/e"} xref: Orphanet:169464 {source="OMIM:612300", source="MONDO:equivalentTo"} xref: UMLS:C2676767 {source="OMIM:612300", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0003689 ! familial hemolytic anemia is_a: MONDO:0020127 {source="Orphanet:169464"} ! hereditary peripheral neuropathy property_value: exactMatch http://identifiers.org/mesh/C567355 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676767 property_value: exactMatch https://omim.org/entry/612300 property_value: exactMatch Orphanet:169464 [Term] id: MONDO:0012859 name: autosomal recessive osteopetrosis 7 def: "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFRS11A gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0010106"} subset: ordo_disease {source="Orphanet:178389"} synonym: "autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia" EXACT [DOID:0110946, Orphanet:178389] synonym: "autosomal recessive osteopetrosis type 7" EXACT [DOID:0110946, MONDORULE:1, Orphanet:178389] synonym: "OPTB7" EXACT ABBREVIATION [DOID:0110946, MONDO:Lexical, OMIM:612301] synonym: "osteoclast-poor osteopetrosis with hypogammaglobulinemia" EXACT [DOID:0110946] synonym: "osteopetrosis (disease) caused by mutation in TNFRSF11A" EXACT [] synonym: "osteopetrosis autosomal recessive 7" RELATED [GARD:0010106] synonym: "osteopetrosis osteoclast-poor with hypogammaglobulinemia" RELATED [GARD:0010106] synonym: "osteopetrosis, autosomal recessive 7" RELATED [MONDO:Lexical, OMIM:612301] synonym: "osteopetrosis, autosomal recessive type 7" EXACT [MONDORULE:1, OMIM:612301] synonym: "osteopetrosis, osteoclast-poor, with hypogammaglobulinemia" RELATED [OMIM:612301] synonym: "osteopetrosis-hypogammaglobulinemia syndrome" EXACT [DOID:0110946] synonym: "TNFRSF11A osteopetrosis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0110946 {source="MONDO:equivalentTo"} xref: MESH:C567354 {source="MONDO:equivalentTo"} xref: OMIM:612301 {source="Orphanet:178389", source="MONDO:equivalentTo", source="DOID:0110946", source="Orphanet:178389/e"} xref: Orphanet:178389 {source="OMIM:612301", source="MONDO:equivalentTo", source="DOID:0110946"} xref: UMLS:C2676766 {source="OMIM:612301", source="Orphanet:178389", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015132 {source="MONDO:0018041-obsoleted"} ! immunodeficiency predominantly affecting antibody production is_a: MONDO:0019026 ! autosomal recessive osteopetrosis property_value: exactMatch DOID:0110946 property_value: exactMatch http://identifiers.org/mesh/C567354 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676766 property_value: exactMatch https://omim.org/entry/612301 property_value: exactMatch Orphanet:178389 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10106/osteopetrosis-autosomal-recessive-7 xsd:anyURI {source="GARD:0010106"} [Term] id: MONDO:0012864 name: chromosome 2q32-q33 deletion syndrome def: "2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features." [Orphanet:251019] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:251019"} synonym: "2q32-q33 microdeletion syndrome" EXACT [DOID:0060428, Orphanet:251019] synonym: "2q32q33 microdeletion syndrome" EXACT [DOID:0060428] synonym: "2q32q33 microdeletion syndromes" RELATED [GARD:0013206] synonym: "chromosome 2q32-q33 deletion syndrome" EXACT [OMIM:612313] synonym: "Del(2)(q32)" EXACT [Orphanet:251019] synonym: "Del(2)(q32q33)" EXACT [Orphanet:251019] synonym: "glass" RELATED [MONDO:Lexical, OMIM:612313] synonym: "glass syndrome" EXACT [DOID:0060428, MONDO:Lexical, OMIM:612313] synonym: "monosomy 2q32" EXACT [DOID:0060428, Orphanet:251019] synonym: "monosomy 2q32-q33" EXACT [DOID:0060428, GARD:0013206, Orphanet:251019] synonym: "monosomy 2q32q33" EXACT [DOID:0060428, Orphanet:251019] synonym: "SAS" RELATED ABBREVIATION [GARD:0013206] synonym: "SATB2 syndrome" RELATED [GARD:0013206] synonym: "SATB2-associated syndrome" RELATED [GARD:0013206] xref: DOID:0060428 {source="MONDO:equivalentTo"} xref: MESH:C567350 {source="MONDO:equivalentTo"} xref: OMIM:612313 {source="Orphanet:251019/e", source="MONDO:equivalentTo", source="DOID:0060428", source="Orphanet:251019"} xref: Orphanet:251019 {source="OMIM:612313", source="MONDO:equivalentTo", source="DOID:0060428"} xref: Orphanet:576283 {source="MONDO:equivalentTo"} xref: SCTID:719659003 {source="MONDO:equivalentTo"} xref: UMLS:C2676739 {source="OMIM:612313", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:251019"} xref: UMLS:C4304531 {source="MONDO:equivalentTo"} is_a: MONDO:0016901 {source="Orphanet:251019"} ! partial deletion of the long arm of chromosome 2 is_a: MONDO:0100147 {source="https://clinicalgenome.org/affiliation/40006/"} ! SATB2 associated disorder property_value: exactMatch DOID:0060428 property_value: exactMatch http://identifiers.org/mesh/C567350 property_value: exactMatch http://identifiers.org/snomedct/719659003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676739 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304531 property_value: exactMatch https://omim.org/entry/612313 property_value: exactMatch Orphanet:251019 property_value: exactMatch Orphanet:576283 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0012866 name: hereditary spastic paraplegia 35 def: "Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging." [Orphanet:171629] subset: ordo_disease {source="Orphanet:171629"} synonym: "autosomal recessive spastic paraplegia 35" EXACT [DOID:0110786] synonym: "autosomal recessive spastic paraplegia type 35" EXACT [DOID:0110786] synonym: "FA2H hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary spastic paraplegia 35" EXACT [] synonym: "hereditary spastic paraplegia caused by mutation in FA2H" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 35" EXACT [DOID:0110786, MONDORULE:2] synonym: "leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia" EXACT [DOID:0110786] synonym: "leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia" RELATED [OMIM:612319] synonym: "spastic paraplegia 35, autosomal recessive" RELATED [MONDO:Lexical, OMIM:612319] synonym: "SPG35" EXACT ABBREVIATION [DOID:0110786, MONDO:Lexical, OMIM:612319, Orphanet:171629] xref: DOID:0110786 {source="MONDO:equivalentTo"} xref: MESH:C567311 {source="MONDO:equivalentTo"} xref: OMIM:612319 {source="DOID:0110786", source="Orphanet:171629", source="MONDO:equivalentTo", source="Orphanet:171629/e"} xref: Orphanet:171629 {source="DOID:0110786", source="MONDO:equivalentTo", source="OMIM:612319"} xref: SCTID:764688002 {source="MONDO:equivalentTo"} xref: UMLS:C3496228 {source="MONDO:equivalentTo"} is_a: MONDO:0017915 {source="Orphanet:171629"} ! pure or complex autosomal recessive spastic paraplegia property_value: exactMatch DOID:0110786 property_value: exactMatch http://identifiers.org/mesh/C567311 property_value: exactMatch http://identifiers.org/snomedct/764688002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3496228 property_value: exactMatch https://omim.org/entry/612319 property_value: exactMatch Orphanet:171629 [Term] id: MONDO:0012867 name: hereditary spastic paraplegia 38 def: "A hereditary spastic paraplegia that has material basis in variation in the chromosome region 4p16-p15." [DOID:0110789, PMID:18401025] subset: ordo_disease {source="Orphanet:171617"} synonym: "autosomal dominant spastic paraplegia 38" EXACT [DOID:0110789] synonym: "autosomal dominant spastic paraplegia type 38" EXACT [DOID:0110789] synonym: "hereditary spastic paraplegia type 38" EXACT [DOID:0110789, MONDORULE:2] synonym: "spastic paraplegia 38, autosomal dominant" RELATED [MONDO:Lexical, OMIM:612335] synonym: "SPG38" EXACT ABBREVIATION [DOID:0110789, MONDO:Lexical, OMIM:612335, Orphanet:171617] xref: DOID:0110789 {source="MONDO:equivalentTo"} xref: MESH:C567349 {source="MONDO:equivalentTo"} xref: OMIM:612335 {source="DOID:0110789", source="Orphanet:171617", source="MONDO:equivalentTo", source="Orphanet:171617/e"} xref: Orphanet:171617 {source="DOID:0110789", source="OMIM:612335", source="MONDO:equivalentTo"} xref: UMLS:C2676732 {source="Orphanet:171617", source="OMIM:612335", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:171617/e"} is_a: MONDO:0015087 {source="Orphanet:171617"} ! autosomal dominant complex spastic paraplegia property_value: exactMatch DOID:0110789 property_value: exactMatch http://identifiers.org/mesh/C567349 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676732 property_value: exactMatch https://omim.org/entry/612335 property_value: exactMatch Orphanet:171617 [Term] id: MONDO:0012868 name: thrombophilia due to protein S deficiency, autosomal dominant def: "Autosomal dominant form of hereditary thrombophilia due to congenital protein S deficiency." [MONDO:design_pattern] comment: Note that ORDO appears to classify as hereditary and acquired. subset: ordo_disease {source="Orphanet:26349"} synonym: "autosomal dominant hereditary thrombophilia due to congenital protein S deficiency" EXACT [MONDO:design_pattern] synonym: "hereditary thrombophilia due to congenital protein S deficiency, autosomal dominant" EXACT [MONDO:design_pattern, MONDO:patterns/autosomal_dominant] synonym: "protein S acquired deficiency" RELATED [Orphanet:26349] synonym: "THPH5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612336] synonym: "thrombophilia 5 due to protein S deficiency, autosomal dominant" EXACT [OMIM:612336, OMIM:genemap2] synonym: "thrombophilia due to protein S deficiency, autosomal dominant" EXACT [MONDO:Lexical, OMIM:612336] xref: DOID:0111900 {source="MONDO:equivalentTo"} xref: MedDRA:10068370 {source="Orphanet:26349", source="Orphanet:26349/e"} xref: MESH:C567077 {source="MONDO:equivalentTo"} xref: OMIM:612336 {source="MONDO:equivalentTo"} xref: Orphanet:26349 {source="MONDO:equivalentTo", source="OMIM:612336"} xref: UMLS:C3278211 {source="MONDO:equivalentTo", source="OMIM:612336"} is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0019144 {source="MONDO:Redundant", source="Orphanet:743/btnt"} ! hereditary thrombophilia due to congenital protein S deficiency property_value: closeMatch http://identifiers.org/meddra/10068370 property_value: exactMatch DOID:0111900 property_value: exactMatch http://identifiers.org/mesh/C567077 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3278211 property_value: exactMatch https://omim.org/entry/612336 property_value: exactMatch Orphanet:26349 property_value: excluded_subClassOf MONDO:0016634 {source="Orphanet:26349"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012873 name: Ehlers-Danlos syndrome, spondylocheirodysplastic type def: "Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers." [Orphanet:157965] subset: ordo_disease {source="Orphanet:157965"} synonym: "EDS, spondylocheirodysplastic type" EXACT [Orphanet:157965] synonym: "EDSSPD3" RELATED ABBREVIATION [OMIM:612350] synonym: "Ehlers-Danlos syndrome, spondylodysplastic type, 3" RELATED [OMIM:612350] synonym: "SCD-EDS" RELATED [OMIM:612350] synonym: "spondylocheirodysplasia, Ehlers-Danlos syndrome-like" RELATED [OMIM:612350] xref: DOID:0080739 {source="MONDO:equivalentTo"} xref: MESH:C567340 {source="MONDO:equivalentTo"} xref: OMIM:612350 {source="MONDO:equivalentTo", source="Orphanet:157965", source="Orphanet:157965/e"} xref: Orphanet:157965 {source="MONDO:equivalentTo", source="OMIM:612350"} xref: UMLS:C2676510 {source="MONDO:equivalentTo", source="Orphanet:157965", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612350"} is_a: MONDO:0007526 {source="https://orcid.org/0000-0001-5493-2602"} ! Ehlers-Danlos syndrome, spondylodysplastic type is_a: MONDO:0016761 {source="Orphanet:157965", source="PMID:31633310"} ! spondyloepiphyseal dysplasia property_value: exactMatch DOID:0080739 property_value: exactMatch http://identifiers.org/mesh/C567340 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676510 property_value: exactMatch https://omim.org/entry/612350 property_value: exactMatch Orphanet:157965 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0012876 name: heparin cofactor 2 deficiency synonym: "Hcf 2 deficiency" RELATED [OMIM:612356] synonym: "Hcf2 deficiency" RELATED [OMIM:612356] synonym: "heparin cofactor 2 deficiency" EXACT [] synonym: "heparin cofactor II deficiency" RELATED [OMIM:612356] synonym: "thrombophilia 10 due to heparin cofactor II deficiency" EXACT [OMIM:612356, OMIM:genemap2] synonym: "thrombophilia due to heparin cofactor 2 deficiency" RELATED [OMIM:612356] xref: DOID:0111901 {source="MONDO:equivalentTo"} xref: ICD9:286.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562865 {source="MONDO:equivalentTo"} xref: OMIM:612356 {source="MONDO:equivalentTo"} xref: SCTID:234468009 {source="MONDO:equivalentTo"} xref: UMLS:C0398626 {source="OMIM:612356", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0100240 {source="DC-OMIM:612356", source="OMIM:612356"} ! inherited thrombophilia property_value: exactMatch DOID:0111901 property_value: exactMatch http://identifiers.org/mesh/C562865 property_value: exactMatch http://identifiers.org/snomedct/234468009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398626 property_value: exactMatch https://omim.org/entry/612356 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012880 name: hypogonadotropic hypogonadism 5 with or without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the CHD7 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare synonym: "CHD7 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "HH5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612370] synonym: "hypogonadotropic hypogonadism 5 with or without anosmia" EXACT [MONDO:Lexical, OMIM:612370] synonym: "hypogonadotropic hypogonadism caused by mutation in CHD7" EXACT [MONDO:design_pattern] synonym: "KAL5" NARROW ABBREVIATION [GARD:0010773] synonym: "Kallmann syndrome 5" RELATED [GARD:0010773] xref: DOID:0090084 {source="MONDO:equivalentTo"} xref: ICD10CM:E23.0 {source="DOID:0090084", source="MONDO:relatedTo"} xref: MESH:C567220 {source="MONDO:equivalentTo"} xref: OMIM:612370 {source="DOID:0090084", source="GARD:0010773", source="MONDO:equivalentTo"} xref: UMLS:C3552553 {source="MONDO:equivalentTo", source="OMIM:612370"} is_a: MONDO:0018800 {source="MESH:C567220", source="Orphanet:478/btnt"} ! Kallmann syndrome property_value: exactMatch DOID:0090084 property_value: exactMatch http://identifiers.org/mesh/C567220 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3552553 property_value: exactMatch https://omim.org/entry/612370 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10773/kallmann-syndrome-5 xsd:anyURI {source="GARD:0010773"} [Term] id: MONDO:0012885 name: SRD5A3-congenital disorder of glycosylation def: "A rare, non X-linked congenital disorder of gyclosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation." [Orphanet:324737] subset: ordo_disease {source="Orphanet:324737"} synonym: "CDG Iq" RELATED [OMIM:612379] synonym: "CDG syndrome type Iq" EXACT [Orphanet:324737] synonym: "CDG-Iq" EXACT [Orphanet:324737] synonym: "CDG1Q" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612379, Orphanet:324737] synonym: "CDGIq" RELATED [GARD:0012397] synonym: "coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities" RELATED [OMIM:612379] synonym: "congenital disorder of glycosylation due to steroid 5alpha-reductase type 3 deficiency" RELATED [GARD:0012397] synonym: "congenital disorder of glycosylation type 1q" EXACT [Orphanet:324737] synonym: "congenital disorder of glycosylation type Iq" EXACT [Orphanet:324737] synonym: "congenital disorder of glycosylation, type Iq" RELATED [MONDO:Lexical, OMIM:612379] synonym: "SRD5A3-CDG" EXACT ABBREVIATION [Orphanet:324737] synonym: "SRD5A3-CDG (CDG-Iq)" RELATED [GARD:0012397] synonym: "SRD5A3-congenital disorder of glycosylation" EXACT [] xref: DOID:0080568 {source="MONDO:equivalentTo"} xref: OMIM:612379 {source="MONDO:equivalentTo", source="Orphanet:324737", source="Orphanet:324737/e"} xref: Orphanet:324737 {source="OMIM:612379", source="MONDO:equivalentTo"} xref: SCTID:733601006 {source="MONDO:equivalentTo"} xref: UMLS:C3150191 {source="MONDO:equivalentObsolete", source="OMIM:612379", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:324737"} xref: UMLS:C4317224 {source="MONDO:equivalentTo"} is_a: EFO:0005545 {source="DC-OMIM:612379"} ! congenital disorder of glycosylation type I is_a: MONDO:0017749 {source="Orphanet:324737"} ! disorder of multiple glycosylation relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch DOID:0080568 property_value: exactMatch http://identifiers.org/snomedct/733601006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4317224 property_value: exactMatch https://omim.org/entry/612379 property_value: exactMatch Orphanet:324737 property_value: excluded_subClassOf MONDO:0005093 property_value: excluded_subClassOf MONDO:0020145 {source="MONDO:0020149-obsoleted"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5682 xsd:anyURI [Term] id: MONDO:0012892 name: bone fragility with contractures, arterial rupture, and deafness def: "A rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features." [Orphanet:300284] subset: ordo_disease {source="Orphanet:300284"} synonym: "bone fragility with contractures, arterial rupture, and deafness" EXACT [OMIM:612394] synonym: "bone fragility-contractures-arterial rupture-deafness syndrome" EXACT [Orphanet:300284] synonym: "connective tissue disorder due to LH3 deficiency" EXACT [Orphanet:300284] synonym: "connective tissue disorder due to lysyl hydroxylase-3 deficiency" EXACT [Orphanet:300284] synonym: "LH3 deficiency" RELATED [OMIM:612394] synonym: "lysyl Hydroxylase 3 deficiency" RELATED [OMIM:612394] xref: MESH:C567320 {source="MONDO:equivalentTo"} xref: OMIM:612394 {source="Orphanet:300284/e", source="MONDO:equivalentTo", source="Orphanet:300284"} xref: Orphanet:300284 {source="MONDO:equivalentTo", source="OMIM:612394"} xref: SCTID:763318007 {source="MONDO:equivalentTo"} xref: UMLS:C2676285 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:300284", source="OMIM:612394"} is_a: MONDO:0019755 {source="MONDO:0015332-obsoleted"} ! developmental defect during embryogenesis is_a: MONDO:0023603 {source="https://orcid.org/0000-0002-1780-5230"} ! hereditary disorder of connective tissue property_value: exactMatch http://identifiers.org/mesh/C567320 property_value: exactMatch http://identifiers.org/snomedct/763318007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676285 property_value: exactMatch https://omim.org/entry/612394 property_value: exactMatch Orphanet:300284 [Term] id: MONDO:0012895 name: torsion dystonia 17 def: "A dystonia characterized by autosomal recessive inheritance of progressive dystonia, dysphonia, dysarthria and neck torticollis that has material basis in variation in the chromosome region 20p11.2-q13.12." [DOID:0090042] subset: ordo_disease {source="Orphanet:370103"} synonym: "dystonia 17, torsion, autosomal recessive" RELATED [MONDO:Lexical, OMIM:612406] synonym: "dystonia-17, primary torsion" EXACT [OMIM:612406, OMIM:genemap2] synonym: "DYT17" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612406] synonym: "primary dystonia, DYT17 type" RELATED [Orphanet:370103] synonym: "torsion dystonia type 17" EXACT [DOID:0090042, MONDORULE:2] xref: DOID:0090042 {source="MONDO:equivalentTo"} xref: MESH:C567319 {source="MONDO:equivalentTo"} xref: OMIM:612406 {source="Orphanet:370103/e", source="DOID:0090042", source="MONDO:equivalentTo", source="Orphanet:370103"} xref: Orphanet:370103 {source="DOID:0090042", source="MONDO:equivalentTo", source="OMIM:612406"} xref: UMLS:C2676281 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612406"} is_a: MONDO:0015990 {source="Orphanet:370103"} ! focal, segmental or multifocal dystonia property_value: exactMatch DOID:0090042 property_value: exactMatch http://identifiers.org/mesh/C567319 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676281 property_value: exactMatch https://omim.org/entry/612406 property_value: exactMatch Orphanet:370103 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012897 name: congenital factor XI deficiency def: "Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery." [Orphanet:329] subset: gard_rare {source="GARD:0009670"} subset: ordo_disease {source="Orphanet:329"} synonym: "congenital factor XI deficiency" EXACT [DOID:2229, ICD9CM:286.2] synonym: "F11 deficiency" RELATED [OMIM:612416] synonym: "factor 11 deficiency" RELATED [OMIM:612416] synonym: "factor XI deficiency" RELATED [OMIM:612416] synonym: "factor XI deficiency, autosomal dominant" EXACT [OMIM:612416, OMIM:genemap2] synonym: "factor XI deficiency, autosomal recessive" EXACT [OMIM:612416, OMIM:genemap2] synonym: "haemophilia C" EXACT OMO:0003005 [] synonym: "hemophilia C" EXACT [DOID:2229, Orphanet:329] synonym: "hereditary Factor XI deficiency" EXACT [NCIT:C84705] synonym: "hereditary factor XI deficiency" EXACT [MONDO:patterns/hereditary] synonym: "hereditary factor XI deficiency disease" EXACT [DOID:2229] synonym: "plasma thromboplastin antecedent deficiency" EXACT [DOID:2229, Orphanet:329] synonym: "PTA deficiency" EXACT [OMIM:612416, Orphanet:329] synonym: "Rosenthal factor deficiency" EXACT [Orphanet:329] synonym: "Rosenthal syndrome" EXACT [OMIM:612416, Orphanet:329] synonym: "Rosenthal's disease" EXACT [DOID:2229] xref: DOID:2229 {source="MONDO:equivalentTo"} xref: ICD9:286.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2229"} xref: NCIT:C84705 {source="MONDO:equivalentTo", source="DOID:2229"} xref: OMIM:612416 {source="MONDO:equivalentTo", source="Orphanet:329", source="DOID:2229", source="Orphanet:329/e"} xref: Orphanet:329 {source="MONDO:equivalentTo", source="OMIM:612416"} xref: SCTID:49762007 {source="MONDO:equivalentTo", source="DOID:2229"} xref: UMLS:C0015523 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C84705", source="Orphanet:329", source="OMIM:612416", source="DOID:2229"} is_a: MONDO:0000429 {source="DOID:2229"} ! autosomal genetic disease is_a: MONDO:0002243 {source="MESH:D005173"} ! hemorrhagic disease is_a: MONDO:0009332 ! congenital hematological disorder is_a: MONDO:0020587 ! factor XI deficiency is_a: MONDO:0021181 {source="MESH:D005173", source="MONDO:Redundant"} ! inherited blood coagulation disorder intersection_of: MONDO:0020587 ! factor XI deficiency intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch DOID:2229 property_value: exactMatch http://identifiers.org/snomedct/49762007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015523 property_value: exactMatch https://omim.org/entry/612416 property_value: exactMatch NCIT:C84705 property_value: exactMatch Orphanet:329 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5537 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9670/factor-xi-deficiency xsd:anyURI {source="GARD:0009670"} [Term] id: MONDO:0012901 name: inherited prekallikrein deficiency def: "An instance of prekallikrein deficiency that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: gard_rare {source="GARD:0004477"} subset: ordo_disease {source="Orphanet:749"} synonym: "congenital prekallikrein deficiency" EXACT [Orphanet:749] synonym: "fletcher factor (prekallikrein) deficiency" EXACT [OMIM:612423, OMIM:genemap2] synonym: "Fletcher Factor deficiency" RELATED [OMIM:612423] synonym: "hereditary prekallikrein deficiency" EXACT [MONDO:patterns/hereditary] synonym: "PKK deficiency" RELATED [OMIM:612423] synonym: "prekallikrein deficiency" RELATED [OMIM:612423] synonym: "prekallikrein deficiency, congenital" RELATED [GARD:0004477] xref: ICD9:286.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562725 {source="MONDO:equivalentTo"} xref: OMIM:612423 {source="MONDO:equivalentTo", source="Orphanet:749", source="Orphanet:749/e"} xref: Orphanet:749 {source="OMIM:612423", source="MONDO:equivalentTo"} is_a: MONDO:0002242 {source="MONDO:0019039-obsoleted"} ! coagulation protein disease is_a: MONDO:0002243 ! hemorrhagic disease is_a: MONDO:0021181 ! inherited blood coagulation disorder is_a: MONDO:0044744 ! prekallikrein deficiency intersection_of: MONDO:0044744 ! prekallikrein deficiency intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/mesh/C562725 property_value: exactMatch https://omim.org/entry/612423 property_value: exactMatch Orphanet:749 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4477/prekallikrein-deficiency-congenital xsd:anyURI {source="GARD:0004477"} [Term] id: MONDO:0012905 name: hypomyelinating leukodystrophy 6 def: "Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria." [Orphanet:139441] subset: ordo_disease {source="Orphanet:139441"} synonym: "H-ABC" EXACT [DOID:0060798, Orphanet:139441] synonym: "HABC" EXACT ABBREVIATION [DOID:0060798] synonym: "HLD6" EXACT ABBREVIATION [DOID:0060798, MONDO:Lexical, OMIM:612438] synonym: "hypomyelinating leukodystrophy type 6" EXACT [DOID:0060798, MONDORULE:1] synonym: "hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum" EXACT [DOID:0060798] synonym: "hypomyelination with atrophy of basal ganglia and cerebellum" EXACT [DOID:0060798] synonym: "leukodystrophy, hypomyelinating, 6" RELATED [MONDO:Lexical, OMIM:612438] synonym: "leukodystrophy, hypomyelinating, type 6" EXACT [MONDORULE:1, OMIM:612438] synonym: "leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum" RELATED [OMIM:612438] xref: DOID:0060798 {source="MONDO:equivalentTo"} xref: MESH:C567314 {source="MONDO:equivalentTo"} xref: OMIM:612438 {source="Orphanet:139441/e", source="DOID:0060798", source="MONDO:equivalentTo", source="Orphanet:139441"} xref: Orphanet:139441 {source="DOID:0060798", source="MONDO:equivalentTo", source="OMIM:612438"} xref: UMLS:C2676244 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612438"} is_a: MONDO:0019046 {source="DOID:0060798", source="DOID:0060798/inferred", source="OMIM:612438", source="Orphanet:139441"} ! leukodystrophy property_value: exactMatch DOID:0060798 property_value: exactMatch http://identifiers.org/mesh/C567314 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676244 property_value: exactMatch https://omim.org/entry/612438 property_value: exactMatch Orphanet:139441 [Term] id: MONDO:0012907 name: blindness - scoliosis - arachnodactyly syndrome def: "This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes." [Orphanet:171844] subset: ordo_malformation_syndrome {source="Orphanet:171844"} synonym: "scoliosis, arachnodactyly, and blindness" RELATED [OMIM:612445] xref: MESH:C567309 {source="MONDO:equivalentTo"} xref: OMIM:612445 {source="Orphanet:171844/e", source="MONDO:equivalentTo", source="Orphanet:171844"} xref: Orphanet:171844 {source="OMIM:612445", source="MONDO:equivalentTo"} xref: SCTID:717920004 {source="MONDO:equivalentTo"} xref: UMLS:C2676234 {source="OMIM:612445", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:171844"} is_a: EFO:0003966 {source="Orphanet:171844"} ! eye disease is_a: MONDO:0019755 {source="MONDO:0015332-obsoleted"} ! developmental defect during embryogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015107"} ! rare property_value: exactMatch http://identifiers.org/mesh/C567309 property_value: exactMatch http://identifiers.org/snomedct/717920004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676234 property_value: exactMatch https://omim.org/entry/612445 property_value: exactMatch Orphanet:171844 [Term] id: MONDO:0012909 name: skeletal defects, genital hypoplasia, and intellectual disability synonym: "skeletal defects, genital hypoplasia, and intellectual disability" EXACT [OMIM:612447] synonym: "skeletal defects, genital hypoplasia, and mental retardation" EXACT DEPRECATED [OMIM:612447] xref: MESH:C567306 {source="MONDO:equivalentTo"} xref: OMIM:612447 {source="MONDO:equivalentTo"} xref: UMLS:C2676231 {source="MONDO:equivalentTo", source="OMIM:612447", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C567306 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676231 property_value: exactMatch https://omim.org/entry/612447 [Term] id: MONDO:0012911 name: pseudohypoparathyroidism type 1C def: "A rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha)." [Orphanet:79444] subset: gard_rare {source="GARD:0010681"} subset: ordo_disease {source="Orphanet:79444"} synonym: "Php 1C" RELATED [OMIM:612462] synonym: "PHP1C" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612462] synonym: "pseudohypoparathyroidism Ic" EXACT [OMIM:612462, OMIM:genemap2] synonym: "pseudohypoparathyroidism, type 1C" RELATED [OMIM:612462] synonym: "pseudohypoparathyroidism, type IC" RELATED [MONDO:Lexical, OMIM:612462] xref: MESH:C548076 {source="Orphanet:79444/e", source="MONDO:equivalentTo", source="Orphanet:79444"} xref: OMIM:612462 {source="Orphanet:79444/e", source="MONDO:equivalentTo", source="Orphanet:79444"} xref: Orphanet:79444 {source="OMIM:612462", source="MONDO:equivalentTo"} xref: SCTID:717792007 {source="MONDO:equivalentTo"} xref: UMLS:C2932716 {source="OMIM:612462", source="Orphanet:79444/e", source="MONDO:equivalentTo", source="Orphanet:79444"} is_a: MONDO:0016565 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! syndromic genetic obesity is_a: MONDO:0018379 {source="Orphanet:79444"} ! primary avascular necrosis is_a: MONDO:0018384 ! avascular necrosis of genetic origin is_a: MONDO:0019695 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! acromelic dysplasia is_a: MONDO:0019992 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! pseudohypoparathyroidism property_value: exactMatch http://identifiers.org/mesh/C548076 property_value: exactMatch http://identifiers.org/snomedct/717792007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2932716 property_value: exactMatch https://omim.org/entry/612462 property_value: exactMatch Orphanet:79444 property_value: excluded_subClassOf MONDO:0005093 {source="MONDO:0018798-obsoleted"} property_value: excluded_subClassOf MONDO:0021154 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5682 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10681/pseudohypoparathyroidism-type-1c xsd:anyURI {source="GARD:0010681"} [Term] id: MONDO:0012912 name: pseudopseudohypoparathyroidism def: "A disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP)." [Orphanet:79445] subset: gard_rare {source="GARD:0007860"} subset: ordo_disease {source="Orphanet:79445"} synonym: "aho-PPHP syndrome" EXACT [Orphanet:79445] synonym: "Albright Hereditary osteodystrophy with multiple hormone resistance" EXACT [NCIT:C129722] synonym: "Albright hereditary osteodystrophy without multiple hormone resistance" RELATED [OMIM:612463] synonym: "Albright hereditary osteodystrophy-PPHP syndrome" EXACT [Orphanet:79445] synonym: "Normocalcemic pseudohypoparathyroidism" EXACT [DOID:4183] synonym: "Normocalcemic pseudohypoparathyroidism (disorder) [ambiguous]" EXACT [DOID:4183] synonym: "PPHP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612463] synonym: "pseudo-pseudohypoparathyroidism" RELATED [GARD:0007860] synonym: "Pseudopseudo-hypoparathyroidism" RELATED [GARD:0007860] synonym: "pseudopseudohypoparathyroidism" EXACT [MONDO:Lexical, OMIM:612463] xref: DOID:4183 {source="MONDO:equivalentTo"} xref: ICD9:275.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D011556 {source="Orphanet:79445/e", source="MONDO:equivalentTo", source="DOID:4183", source="Orphanet:79445"} xref: NCIT:C129722 {source="MONDO:equivalentTo"} xref: OMIM:612463 {source="Orphanet:79445/e", source="MONDO:equivalentTo", source="DOID:4183", source="Orphanet:79445"} xref: Orphanet:665 {source="OMIM:612463", source="MONDO:equivalentObsolete"} xref: Orphanet:79445 {source="OMIM:612463", source="MONDO:equivalentTo"} xref: SCTID:237659007 {source="MONDO:equivalentTo", source="DOID:4183"} xref: UMLS:C0033835 {source="OMIM:612463", source="Orphanet:79445/e", source="MONDO:equivalentTo", source="NCIT:C129722", source="MONDO:ncbi_mim2gene_medline", source="DOID:4183", source="Orphanet:79445"} is_a: MONDO:0016565 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! syndromic genetic obesity is_a: MONDO:0019695 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! acromelic dysplasia is_a: MONDO:0019992 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! pseudohypoparathyroidism property_value: exactMatch DOID:4183 property_value: exactMatch http://identifiers.org/mesh/D011556 property_value: exactMatch http://identifiers.org/snomedct/237659007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033835 property_value: exactMatch https://omim.org/entry/612463 property_value: exactMatch NCIT:C129722 property_value: exactMatch Orphanet:79445 property_value: excluded_subClassOf MONDO:0005093 {source="MONDO:0018798-obsoleted"} property_value: excluded_subClassOf MONDO:0021154 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5682 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7860/pseudopseudohypoparathyroidism xsd:anyURI {source="GARD:0007860"} [Term] id: MONDO:0012914 name: chromosome 1q21.1 deletion syndrome def: "1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome." [Orphanet:250989] subset: ordo_malformation_syndrome {source="Orphanet:250989"} synonym: "1q21.1 microdeletion" RELATED [GARD:0010813] synonym: "1q21.1 microdeletion syndrome" EXACT [DOID:0060411] synonym: "1q21.1 recurrent microdeletion (susceptibility locus for neurodevelopmental disorders)" EXACT [DECIPHER:62] synonym: "chromosome 1q21.1 deletion syndrome, 1.35-MB" RELATED [OMIM:612474] synonym: "chromosome 1q21.1 deletion syndrome, isolated cases" EXACT [OMIM:612474, OMIM:genemap2] synonym: "chromosome 1q21.1 microdeletion syndrome" RELATED [GARD:0010813] synonym: "Del(1)(q21)" EXACT [Orphanet:250989] synonym: "monosomy 1q21.1" EXACT [DOID:0060411, Orphanet:250989] xref: DECIPHER:62 {source="MONDO:equivalentTo"} xref: DOID:0060411 {source="MONDO:equivalentTo"} xref: ICD9:758.33 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:612474 {source="DOID:0060411", source="Orphanet:250989/e", source="MONDO:equivalentTo", source="Orphanet:250989"} xref: Orphanet:250989 {source="OMIM:612474", source="DOID:0060411", source="MONDO:equivalentTo"} xref: SCTID:699305004 {source="MONDO:equivalentTo"} is_a: MONDO:0022756 {source="Orphanet:250989"} ! chromosome 1q deletion property_value: exactMatch DOID:0060411 property_value: exactMatch http://identifiers.org/snomedct/699305004 property_value: exactMatch https://omim.org/entry/612474 property_value: exactMatch Orphanet:250989 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012915 name: chromosome 1q21.1 duplication syndrome def: "Chromosome 1q21.1 duplication syndrome is a rare condition caused by the presence of an extra copy of a small piece of chromosome 1 in the cells of the body. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms, while others may have features such as a large head size (macrocephaly); mild to moderate developmental delay and learning difficulties; autism or autistic-like behavior; heart problems; seizures; and/or and distinctive facial features. This condition can occur sporadically as a de novo mutation (by chance) or can be inherited in an autosomal dominant manner from a parent. Treatment depends on the signs and symptoms present in each individual." [https://rarediseases.info.nih.gov/diseases/10591/chromosome-1q211-duplication-syndrome] subset: gard_rare {source="GARD:0010591"} subset: ordo_malformation_syndrome {source="Orphanet:250994"} synonym: "1q21.1 microduplication syndrome" EXACT [DOID:0060435] synonym: "1q21.1 recurrent microduplication (possible susceptibility locus for neurodevelopmental disorders)" EXACT [DECIPHER:67] synonym: "chromosome 1q21.1 duplication syndrome" EXACT [OMIM:612475] synonym: "chromosome 1q21.1 duplication syndrome, isolated cases" EXACT [OMIM:612475, OMIM:genemap2] synonym: "dup(1)(q21.1)" EXACT [Orphanet:250994] synonym: "trisomy 1q21.1" EXACT [DOID:0060435, Orphanet:250994] xref: DECIPHER:67 {source="MONDO:equivalentTo"} xref: DOID:0060435 {source="MONDO:equivalentTo"} xref: MESH:C567290 {source="MONDO:equivalentTo"} xref: OMIM:612475 {source="DOID:0060435", source="MONDO:equivalentTo", source="Orphanet:250994", source="Orphanet:250994/e"} xref: Orphanet:250994 {source="OMIM:612475", source="DOID:0060435", source="MONDO:equivalentTo"} xref: UMLS:C2675891 {source="OMIM:612475", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:250994"} is_a: MONDO:0016952 {source="Orphanet:250994"} ! partial duplication of the long arm of chromosome 1 property_value: exactMatch DOID:0060435 property_value: exactMatch http://identifiers.org/mesh/C567290 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675891 property_value: exactMatch https://omim.org/entry/612475 property_value: exactMatch Orphanet:250994 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10591/chromosome-1q211-duplication-syndrome xsd:anyURI {source="GARD:0010591"} [Term] id: MONDO:0012916 name: chromosome 2p16.1-p15 deletion syndrome def: "2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." [Orphanet:261349] subset: ordo_malformation_syndrome {source="Orphanet:261349"} synonym: "2p15-p16.1 microdeletion syndrome" EXACT [DOID:0060415, Orphanet:261349] synonym: "2p15p16.1 microdeletion syndrome" EXACT [DOID:0060415] synonym: "chromosome 2p16.1-p15 deletion syndrome" EXACT [OMIM:612513] synonym: "chromosome 2p16.1-p15 deletion syndrome, isolated cases" EXACT [OMIM:612513, OMIM:genemap2] synonym: "Del(2)(p15p16.1)" EXACT [Orphanet:261349] synonym: "monosomy 2p15-p16.1" EXACT [Orphanet:261349] synonym: "monosomy 2p15p16.1" EXACT [Orphanet:261349] xref: DECIPHER:70 {source="MONDO:equivalentTo"} xref: DOID:0060415 {source="MONDO:equivalentTo"} xref: MESH:C567289 {source="MONDO:equivalentTo"} xref: OMIM:612513 {source="Orphanet:261349/e", source="MONDO:equivalentTo", source="DOID:0060415", source="Orphanet:261349"} xref: Orphanet:261349 {source="MONDO:equivalentTo", source="OMIM:612513", source="DOID:0060415"} xref: SCTID:719651000 {source="MONDO:equivalentTo"} xref: UMLS:C2675875 {source="MONDO:equivalentTo", source="OMIM:612513", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:261349"} xref: UMLS:C4304538 {source="MONDO:equivalentTo"} is_a: MONDO:0016884 {source="Orphanet:261349"} ! partial deletion of the short arm of chromosome 2 property_value: exactMatch DOID:0060415 property_value: exactMatch http://identifiers.org/mesh/C567289 property_value: exactMatch http://identifiers.org/snomedct/719651000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675875 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304538 property_value: exactMatch https://omim.org/entry/612513 property_value: exactMatch Orphanet:261349 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012919 name: type 1 diabetes mellitus 20 def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the HNF1A gene." [MONDO:patterns/disease_series_by_gene, MONDO:patterns/inherited_susceptibility] synonym: "diabetes mellitus, insulin-dependent, 20" RELATED [MONDO:Lexical, OMIM:612520] synonym: "diabetes mellitus, insulin-dependent, type 20" EXACT [MONDORULE:2, OMIM:612520] synonym: "HNF1A type 1 diabetes mellitus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "IDDM20" EXACT ABBREVIATION [DOID:0110757, MONDO:Lexical, OMIM:612520] synonym: "insulin-dependent diabetes mellitus 20" EXACT [DOID:0110757] synonym: "type 1 diabetes mellitus caused by mutation in HNF1A" EXACT [MONDO:design_pattern] xref: DOID:0110757 {source="MONDO:equivalentTo"} xref: MESH:C567286 {source="MONDO:equivalentTo"} xref: OMIM:612520 {source="DOID:0110757", source="MONDO:equivalentTo"} xref: UMLS:C2675866 {source="OMIM:612520", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0010255 ! diabetes mellitus, insulin-dependent, X-linked, susceptibility to property_value: exactMatch DOID:0110757 property_value: exactMatch http://identifiers.org/mesh/C567286 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675866 property_value: exactMatch https://omim.org/entry/612520 property_value: excluded_subClassOf MONDO:0005147 {source="DC-OMIM:612520", source="DOID:0110757", source="MESH:C567286", source="MONDO:Redundant"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5033 xsd:anyURI [Term] id: MONDO:0012927 name: chromosome 1q41-q42 deletion syndrome def: "1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease." [Orphanet:250999] subset: gard_rare {source="GARD:0003738"} subset: ordo_malformation_syndrome {source="Orphanet:250999"} synonym: "1q41-q42 deletion syndrome" RELATED [GARD:0003738] synonym: "1q41-q42 microdeletion syndrome" EXACT [DOID:0060412, Orphanet:250999] synonym: "1q41q42 microdeletion syndrome" EXACT [DOID:0060412] synonym: "chromosome 1q41-q42 deletion syndrome" EXACT [OMIM:612530] synonym: "chromosome 1q41-q42 deletion syndrome, isolated cases" EXACT [OMIM:612530, OMIM:genemap2] synonym: "Del(1)(q41q42)" EXACT [Orphanet:250999] synonym: "deletion 1q41-q42" RELATED [GARD:0003738] synonym: "holoprosencephaly 10" RELATED [OMIM:612530] synonym: "monosomy 1q41-q42" EXACT [Orphanet:250999] synonym: "monosomy 1q41q42" EXACT [Orphanet:250999] xref: DOID:0060412 {source="MONDO:equivalentTo"} xref: OMIM:612530 {source="Orphanet:250999/e", source="MONDO:equivalentTo", source="DOID:0060412", source="Orphanet:250999"} xref: Orphanet:250999 {source="OMIM:612530", source="MONDO:equivalentTo", source="DOID:0060412"} xref: SCTID:716515000 {source="MONDO:equivalentTo"} xref: UMLS:C2675857 {source="OMIM:612530", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4274528 {source="MONDO:equivalentTo"} is_a: MONDO:0016296 {source="DC-OMIM:612530", source="OMIM:612530"} ! holoprosencephaly is_a: MONDO:0022756 {source="Orphanet:250999"} ! chromosome 1q deletion property_value: exactMatch DOID:0060412 property_value: exactMatch http://identifiers.org/snomedct/716515000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675857 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274528 property_value: exactMatch https://omim.org/entry/612530 property_value: exactMatch Orphanet:250999 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3738/chromosome-1q41-q42-deletion-syndrome xsd:anyURI {source="GARD:0003738"} [Term] id: MONDO:0012928 name: hereditary spastic paraplegia 42 def: "Autosomal dominant spastic paraplegia type 42 is a pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging." [Orphanet:171863] subset: ordo_disease {source="Orphanet:171863"} synonym: "autosomal dominant pure spastic paraplegia caused by mutation in SLC33A1" EXACT [MONDO:design_pattern] synonym: "autosomal dominant spastic paraplegia 42" EXACT [DOID:0110794] synonym: "autosomal dominant spastic paraplegia type 42" EXACT [DOID:0110794] synonym: "hereditary spastic paraplegia type 42" EXACT [DOID:0110794, MONDORULE:2] synonym: "SLC33A1 autosomal dominant pure spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "spastic paraplegia 42, autosomal dominant" RELATED [MONDO:Lexical, OMIM:612539] synonym: "SPG42" EXACT ABBREVIATION [DOID:0110794, MONDO:Lexical, OMIM:612539, Orphanet:171863] xref: DOID:0110794 {source="MONDO:equivalentTo"} xref: MESH:C567262 {source="MONDO:equivalentTo"} xref: OMIM:612539 {source="Orphanet:171863/e", source="MONDO:equivalentTo", source="DOID:0110794", source="Orphanet:171863"} xref: Orphanet:171863 {source="MONDO:equivalentTo", source="OMIM:612539", source="DOID:0110794"} xref: SCTID:763070001 {source="MONDO:equivalentTo"} xref: UMLS:C2675528 {source="Orphanet:171863/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612539", source="Orphanet:171863"} is_a: MONDO:0015088 {source="MONDO:Redundant", source="Orphanet:171863"} ! autosomal dominant pure spastic paraplegia property_value: exactMatch DOID:0110794 property_value: exactMatch http://identifiers.org/mesh/C567262 property_value: exactMatch http://identifiers.org/snomedct/763070001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675528 property_value: exactMatch https://omim.org/entry/612539 property_value: exactMatch Orphanet:171863 [Term] id: MONDO:0012929 name: Compton-North congenital myopathy subset: ordo_disease {source="Orphanet:210163"} synonym: "Compton-North congenital myopathy" EXACT [] synonym: "congenital lethal myopathy, Compton-North type" RELATED [Orphanet:210163] synonym: "myopathy, congenital, Compton-NORTH" RELATED [MONDO:Lexical, OMIM:612540] synonym: "MYPCN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612540] xref: DOID:0080101 {source="MONDO:equivalentTo"} xref: MESH:C567261 {source="MONDO:equivalentTo"} xref: OMIM:612540 {source="DOID:0080101", source="Orphanet:210163/e", source="MONDO:equivalentTo", source="Orphanet:210163"} xref: Orphanet:210163 {source="OMIM:612540", source="MONDO:equivalentTo"} xref: UMLS:C2675527 {source="OMIM:612540", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019952 {source="DC-OMIM:612540", source="DOID:0080101", source="Orphanet:210163"} ! congenital myopathy property_value: exactMatch DOID:0080101 property_value: exactMatch http://identifiers.org/mesh/C567261 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675527 property_value: exactMatch https://omim.org/entry/612540 property_value: exactMatch Orphanet:210163 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0012930 name: autosomal recessive severe congenital neutropenia due to G6PC3 deficiency subset: ordo_disease {source="Orphanet:331176"} synonym: "autosomal recessive severe congenital neutropenia due to G6PC3 deficiency" EXACT [] synonym: "Dursun syndrome" RELATED [OMIM:612541] synonym: "neutropenia, severe congenital 4, autosomal recessive" EXACT [OMIM:612541, OMIM:genemap2] synonym: "neutropenia, severe congenital, 4, autosomal recessive" RELATED [MONDO:Lexical, OMIM:612541] synonym: "pulmonary arterial hypertension, leukopenia, and atrial septal defect" RELATED [OMIM:612541] synonym: "SCN4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612541, Orphanet:331176] synonym: "severe congenital neutropenia type 4" EXACT [Orphanet:331176] synonym: "severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome" EXACT [Orphanet:331176] xref: DOID:0112136 {source="MONDO:equivalentTo"} xref: OMIM:612541 {source="Orphanet:331176", source="MONDO:equivalentTo", source="Orphanet:331176/e"} xref: Orphanet:331176 {source="OMIM:612541", source="MONDO:equivalentTo"} xref: UMLS:C2675526 {source="Orphanet:331176", source="OMIM:612541", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0028226 ! autosomal recessive severe congenital neutropenia property_value: exactMatch DOID:0112136 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675526 property_value: exactMatch https://omim.org/entry/612541 property_value: exactMatch Orphanet:331176 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012933 name: breast-ovarian cancer, familial, susceptibility to, 2 def: "Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA2 gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition synonym: "BRCA2 hereditary breast ovarian cancer syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "breast cancer, familial, susceptibility to, 2" RELATED [OMIM:612555] synonym: "breast-ovarian cancer, familial, 2" EXACT [OMIM:612555, OMIM:genemap2] synonym: "breast-ovarian cancer, familial, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:612555] synonym: "breast-ovarian cancer, familial, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:612555] synonym: "BROVCA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612555] synonym: "hereditary breast ovarian cancer syndrome caused by mutation in BRCA2" EXACT [MONDO:design_pattern] synonym: "ovarian cancer, familial, susceptibility to, 2" RELATED [OMIM:612555] synonym: "susceptibility to familial breast-ovarian cancer 2" RELATED [OMIM:612555] xref: OMIM:612555 {source="MONDO:equivalentTo"} is_a: MONDO:0100526 {source="OMIM:612555"} ! breast-ovarian cancer, familial, susceptibility to relationship: predisposes_towards MONDO:0003582 ! hereditary breast ovarian cancer syndrome property_value: exactMatch https://omim.org/entry/612555 property_value: excluded_subClassOf MONDO:0003582 {source="OMIM:612555"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012941 name: inflammatory bowel disease 25 def: "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RB gene." [MONDO:patterns/disease_series_by_gene] synonym: "early onset autosomal recessive inflammatory bowel disease 25" EXACT [DOID:0110909] synonym: "IBD25" EXACT ABBREVIATION [DOID:0110909, MONDO:Lexical, OMIM:612567] synonym: "IL10RB inflammatory bowel disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "inflammatory bowel disease 25, autosomal recessive" RELATED [MONDO:Lexical, OMIM:612567] synonym: "inflammatory bowel disease 25, early onset, autosomal recessive" EXACT [OMIM:612567, OMIM:genemap2] synonym: "inflammatory bowel disease caused by mutation in IL10RB" EXACT [MONDO:design_pattern] synonym: "inflammatory bowel disease type 25" EXACT [DOID:0110909, MONDORULE:2] synonym: "inflammatory bowel disease, early-onset, autosomal recessive" RELATED [OMIM:612567] xref: DOID:0110909 {source="MONDO:equivalentTo"} xref: MESH:C567251 {source="MONDO:equivalentTo"} xref: OMIM:612567 {source="MONDO:equivalentTo", source="DOID:0110909"} xref: UMLS:C2675508 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612567"} is_a: MONDO:0016542 {source="Orphanet:238569/btnt"} ! immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome property_value: exactMatch DOID:0110909 property_value: exactMatch http://identifiers.org/mesh/C567251 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675508 property_value: exactMatch https://omim.org/entry/612567 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012944 name: chromosome 17P13.3, telomeric, duplication syndrome synonym: "chromosome 17P13.3, telomeric, duplication syndrome" EXACT [OMIM:612576] synonym: "split-hand/foot malformation with long bone deficiency 3" RELATED [OMIM:612576] xref: MESH:C567245 {source="MONDO:equivalentTo"} xref: OMIM:612576 {source="MONDO:equivalentTo"} xref: UMLS:C2675492 {source="OMIM:612576", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018050 {source="Orphanet:3329/btnt"} ! tibial aplasia-ectrodactyly syndrome is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect property_value: exactMatch http://identifiers.org/mesh/C567245 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675492 property_value: exactMatch https://omim.org/entry/612576 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0012948 name: chromosome 6pter-p24 deletion syndrome def: "Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." [Orphanet:96125] subset: ordo_malformation_syndrome {source="Orphanet:96125"} synonym: "6p subtelomeric deletion syndrome" EXACT [DOID:0060422, Orphanet:96125] synonym: "6p25 microdeletion syndrome" EXACT [DOID:0060422, Orphanet:96125] synonym: "chromosome 6pter-p24 deletion syndrome" EXACT [OMIM:612582] synonym: "chromosome 6pter-p24 deletion syndrome, isolated cases" EXACT [OMIM:612582, OMIM:genemap2] synonym: "distal deletion 6p" EXACT [Orphanet:96125] synonym: "distal monosomy 6p" EXACT [DOID:0060422] synonym: "distal monosomy type 6p" EXACT [MONDORULE:4, Orphanet:96125] synonym: "monosomy 6p25" EXACT [Orphanet:96125] xref: DOID:0060422 {source="MONDO:equivalentTo"} xref: MESH:C567239 {source="MONDO:equivalentTo"} xref: OMIM:612582 {source="Orphanet:96125", source="DOID:0060422", source="MONDO:equivalentTo", source="Orphanet:96125/e"} xref: Orphanet:96125 {source="DOID:0060422", source="MONDO:equivalentTo", source="OMIM:612582"} xref: SCTID:718688008 {source="MONDO:equivalentTo"} xref: UMLS:C2675486 {source="Orphanet:96125", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612582"} xref: UMLS:C4305276 {source="MONDO:equivalentTo"} is_a: MONDO:0011119 {source="Orphanet:96125"} ! iridogoniodysgenesis is_a: MONDO:0015159 {source="Orphanet:96125"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0016888 {source="Orphanet:96125"} ! partial deletion of the short arm of chromosome 6 property_value: exactMatch DOID:0060422 property_value: exactMatch http://identifiers.org/mesh/C567239 property_value: exactMatch http://identifiers.org/snomedct/718688008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675486 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305276 property_value: exactMatch https://omim.org/entry/612582 property_value: exactMatch Orphanet:96125 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:96125"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0012964 name: chromosome 15q26-qter deletion syndrome def: "Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported." [Orphanet:1596] subset: ordo_malformation_syndrome {source="Orphanet:1596"} synonym: "15q26 deletion syndrome" EXACT [DOID:0060397, Orphanet:1596] synonym: "chromosome 15q26-qter deletion syndrome" EXACT [OMIM:612626] synonym: "chromosome 15q26-qter deletion syndrome, isolated cases" EXACT [OMIM:612626, OMIM:genemap2] synonym: "distal 15q deletion syndrome" EXACT [DOID:0060397, Orphanet:1596] synonym: "distal monosomy 15q" EXACT [DOID:0060397] synonym: "distal monosomy type 15q" EXACT [MONDORULE:4, Orphanet:1596] synonym: "Drayer syndrome" EXACT [DOID:0060397, OMIM:612626] synonym: "monosomy 15q26" EXACT [Orphanet:1596] synonym: "telomeric 15q deletion syndrome" EXACT [DOID:0060397, Orphanet:1596] xref: DOID:0060397 {source="MONDO:equivalentTo"} xref: MESH:C567232 {source="DOID:0060397", source="MONDO:equivalentTo"} xref: OMIM:612626 {source="Orphanet:1596", source="DOID:0060397", source="MONDO:equivalentTo", source="Orphanet:1596/e"} xref: Orphanet:1596 {source="DOID:0060397", source="MONDO:equivalentTo", source="OMIM:612626"} xref: SCTID:766050000 {source="MONDO:equivalentTo"} xref: UMLS:C2675463 {source="Orphanet:1596", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612626"} is_a: MONDO:0016913 {source="Orphanet:1596"} ! partial deletion of the long arm of chromosome 15 property_value: exactMatch DOID:0060397 property_value: exactMatch http://identifiers.org/mesh/C567232 property_value: exactMatch http://identifiers.org/snomedct/766050000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675463 property_value: exactMatch https://omim.org/entry/612626 property_value: exactMatch Orphanet:1596 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0012967 name: hemolytic anemia due to adenylate kinase deficiency def: "Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment." [Orphanet:86817] subset: ordo_disease {source="Orphanet:86817"} synonym: "ADENYLATE KINASE deficiency, hemolytic anaemia due to" RELATED OMO:0003005 [] synonym: "ADENYLATE KINASE deficiency, hemolytic anemia due to" RELATED [OMIM:612631] xref: MESH:C567228 {source="MONDO:equivalentTo"} xref: OMIM:612631 {source="Orphanet:86817/e", source="MONDO:equivalentTo", source="Orphanet:86817"} xref: Orphanet:86817 {source="OMIM:612631", source="MONDO:equivalentTo"} xref: SCTID:766982000 {source="MONDO:equivalentTo"} xref: UMLS:C2675459 {source="OMIM:612631", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:86817"} is_a: MONDO:0004139 ! normocytic anemia property_value: exactMatch http://identifiers.org/mesh/C567228 property_value: exactMatch http://identifiers.org/snomedct/766982000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675459 property_value: exactMatch https://omim.org/entry/612631 property_value: exactMatch Orphanet:86817 [Term] id: MONDO:0012980 name: endocrine-cerebro-osteodysplasia syndrome def: "Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality." [Orphanet:199332] subset: ordo_malformation_syndrome {source="Orphanet:199332"} synonym: "ECO" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612651] synonym: "ECO syndrome" EXACT [DOID:0060641, Orphanet:199332] synonym: "endocrine-CEREBROOSTEODYSPLASIA" RELATED [MONDO:Lexical, OMIM:612651] xref: DOID:0060641 {source="MONDO:equivalentTo"} xref: MESH:C567210 {source="MONDO:equivalentTo"} xref: OMIM:612651 {source="Orphanet:199332", source="DOID:0060641", source="MONDO:equivalentTo", source="Orphanet:199332/e"} xref: Orphanet:199332 {source="OMIM:612651", source="DOID:0060641", source="MONDO:equivalentTo"} xref: SCTID:723309006 {source="MONDO:equivalentTo"} xref: UMLS:C2675227 {source="OMIM:612651", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4509819 {source="MONDO:equivalentTo"} is_a: MONDO:0018454 {source="MONDO:0018236-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0018731 {source="Orphanet:199332"} ! lethal multiple congenital anomalies/dysmorphic syndrome is_a: MONDO:0043009 {source="MONDO:Redundant", source="Orphanet:199332"} ! hereditary lethal multiple congenital anomalies/dysmorphic syndrome property_value: exactMatch DOID:0060641 property_value: exactMatch http://identifiers.org/mesh/C567210 property_value: exactMatch http://identifiers.org/snomedct/723309006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675227 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4509819 property_value: exactMatch https://omim.org/entry/612651 property_value: exactMatch Orphanet:199332 [Term] id: MONDO:0012982 name: episodic ataxia type 6 def: "Episodic ataxia type 6 (EA6) is an exceedingly rare form of hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia." [Orphanet:209967] subset: ordo_disease {source="Orphanet:209967"} synonym: "EA6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612656] synonym: "episodic ataxia type 6" EXACT [] synonym: "episodic ataxia, type 6" RELATED [MONDO:Lexical, OMIM:612656] synonym: "hereditary episodic ataxia caused by mutation in SLC1A3" EXACT [MONDO:design_pattern] synonym: "SLC1A3 hereditary episodic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0050994 {source="MONDO:equivalentTo"} xref: MESH:C567207 {source="MONDO:equivalentTo"} xref: OMIM:612656 {source="Orphanet:209967", source="DOID:0050994", source="MONDO:equivalentTo", source="Orphanet:209967/e"} xref: Orphanet:209967 {source="MONDO:equivalentTo", source="OMIM:612656"} xref: SCTID:718753002 {source="MONDO:equivalentTo"} xref: UMLS:C2675211 {source="Orphanet:209967", source="MONDO:equivalentTo", source="OMIM:612656", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0016227 {source="DOID:0050994", source="MONDO:Redundant", source="OMIM:612656", source="Orphanet:209967"} ! hereditary episodic ataxia is_a: MONDO:0019216 {source="PMID:33340416"} ! inborn disorder of amino acid transport property_value: exactMatch DOID:0050994 property_value: exactMatch http://identifiers.org/mesh/C567207 property_value: exactMatch http://identifiers.org/snomedct/718753002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675211 property_value: exactMatch https://omim.org/entry/612656 property_value: exactMatch Orphanet:209967 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0012984 name: PHARC syndrome def: "Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life." [Orphanet:171848] subset: ordo_disease {source="Orphanet:171848"} synonym: "peripheral neuropathy, Fiskerstrand type" EXACT [Orphanet:171848] synonym: "PHARC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612674] synonym: "PHARC syndrome" EXACT [Orphanet:171848] synonym: "polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract" RELATED [MONDO:Lexical, OMIM:612674] synonym: "polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome" RELATED [Orphanet:171848] synonym: "polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract" EXACT [DOID:0080181] xref: DOID:0080181 {source="MONDO:equivalentTo"} xref: MESH:C567203 {source="MONDO:equivalentTo"} xref: OMIM:612674 {source="Orphanet:171848", source="MONDO:equivalentTo", source="Orphanet:171848/e", source="DOID:0080181"} xref: Orphanet:171848 {source="OMIM:612674", source="MONDO:equivalentTo", source="DOID:0080181"} xref: SCTID:723452007 {source="MONDO:equivalentTo"} xref: UMLS:C2675204 {source="OMIM:612674", source="Orphanet:171848", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:1000017 {source="DOID:0080181", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015905 ! syndromic dyslipidemia is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis is_a: MONDO:0020127 {source="MONDO:0016132-obsoleted"} ! hereditary peripheral neuropathy is_a: MONDO:0020240 {source="Orphanet:171848"} ! syndromic retinitis pigmentosa property_value: exactMatch DOID:0080181 property_value: exactMatch http://identifiers.org/mesh/C567203 property_value: exactMatch http://identifiers.org/snomedct/723452007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675204 property_value: exactMatch https://omim.org/entry/612674 property_value: exactMatch Orphanet:171848 [Term] id: MONDO:0012986 name: bilateral parasagittal parieto-occipital polymicrogyria subset: gard_rare {source="GARD:0010785"} subset: ordo_clinical_subtype {source="Orphanet:208441"} synonym: "BTOP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612691] synonym: "polymicrogyria, bilateral temporooccipital" RELATED [MONDO:Lexical, OMIM:612691] xref: DOID:0080923 {source="MONDO:equivalentTo"} xref: MESH:C567201 {source="MONDO:equivalentTo"} xref: OMIM:612691 {source="MONDO:equivalentTo", source="Orphanet:208441", source="Orphanet:208441/e"} xref: Orphanet:208441 {source="MONDO:equivalentTo", source="OMIM:612691"} xref: UMLS:C2675191 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612691"} is_a: MONDO:0017091 {source="Orphanet:208441"} ! bilateral polymicrogyria property_value: exactMatch DOID:0080923 property_value: exactMatch http://identifiers.org/mesh/C567201 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675191 property_value: exactMatch https://omim.org/entry/612691 property_value: exactMatch Orphanet:208441 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10785/bilateral-parasagittal-parieto-occipital-polymicrogyria xsd:anyURI {source="GARD:0010785"} [Term] id: MONDO:0012988 name: hypogonadotropic hypogonadism 6 with or without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare synonym: "FGF8 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "HH6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612702] synonym: "hypogonadotropic hypogonadism 6 with or without anosmia" EXACT [MONDO:Lexical, OMIM:612702] synonym: "hypogonadotropic hypogonadism caused by mutation in FGF8" EXACT [MONDO:design_pattern] synonym: "KAL6" NARROW ABBREVIATION [GARD:0010774] synonym: "Kallmann syndrome 6" RELATED [GARD:0010774] xref: DOID:0090086 {source="MONDO:equivalentTo"} xref: ICD10CM:E23.0 {source="DOID:0090086", source="MONDO:relatedTo"} xref: MESH:C567199 {source="MONDO:equivalentTo"} xref: OMIM:612702 {source="DOID:0090086", source="MONDO:equivalentTo", source="GARD:0010774"} xref: UMLS:C3552574 {source="MONDO:equivalentTo", source="OMIM:612702"} is_a: MONDO:0018800 {source="MESH:C567199", source="Orphanet:478/btnt"} ! Kallmann syndrome property_value: exactMatch DOID:0090086 property_value: exactMatch http://identifiers.org/mesh/C567199 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3552574 property_value: exactMatch https://omim.org/entry/612702 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10774/kallmann-syndrome-6 xsd:anyURI {source="GARD:0010774"} [Term] id: MONDO:0012991 name: Kahrizi syndrome def: "An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has material basis in mutation in the SRD5A3 gene." [DOID:0050807, OMIM:612713, Orphanet:168972] synonym: "intellectual disability, cataract, coloboma, and kyphosis, autosomal recessive" RELATED [OMIM:612713] synonym: "Kahrizi syndrome" EXACT [MONDO:Lexical, OMIM:612713] synonym: "KHRZ" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612713] synonym: "mental retardation, cataract, coloboma, and kyphosis, autosomal recessive" RELATED DEPRECATED [OMIM:612713] xref: DOID:0050807 {source="MONDO:equivalentTo"} xref: MESH:C567196 {source="MONDO:equivalentTo"} xref: OMIM:612713 {source="MONDO:equivalentTo", source="DOID:0050807"} xref: Orphanet:168972 {source="MONDO:equivalentObsolete", source="OMIM:612713"} xref: UMLS:C2675185 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612713"} xref: UMLS:CN200191 {source="MONDO:equivalentTo"} is_a: EFO:1000017 {source="DOID:0050807"} ! autosomal recessive disease property_value: exactMatch DOID:0050807 property_value: exactMatch http://identifiers.org/mesh/C567196 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675185 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200191 property_value: exactMatch https://omim.org/entry/612713 [Term] id: MONDO:0012992 name: pancreatic insufficiency-anemia-hyperostosis syndrome def: "This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis." [Orphanet:199337] subset: ordo_disease {source="Orphanet:199337"} synonym: "exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis" RELATED [OMIM:612714] synonym: "pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome" EXACT [] xref: MESH:C567195 {source="MONDO:equivalentTo"} xref: OMIM:612714 {source="MONDO:equivalentTo", source="Orphanet:199337", source="Orphanet:199337/e"} xref: Orphanet:199337 {source="MONDO:equivalentTo", source="OMIM:612714"} xref: SCTID:722207000 {source="MONDO:equivalentTo"} xref: UMLS:C2675184 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:199337", source="OMIM:612714"} xref: UMLS:C4302747 {source="MONDO:equivalentTo"} is_a: MONDO:0001684 {source="MESH:C567195"} ! exocrine pancreatic insufficiency is_a: MONDO:0009068 ! cytochrome-c oxidase deficiency disease is_a: MONDO:0018230 {source="MONDO:0019709-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! skeletal dysplasia is_a: MONDO:0019403 {source="MESH:C567195"} ! congenital dyserythropoietic anemia property_value: exactMatch http://identifiers.org/mesh/C567195 property_value: exactMatch http://identifiers.org/snomedct/722207000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675184 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4302747 property_value: exactMatch https://omim.org/entry/612714 property_value: exactMatch Orphanet:199337 [Term] id: MONDO:0012994 name: dopa-responsive dystonia due to sepiapterin reductase deficiency def: "Dopa responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development." [Orphanet:70594] subset: ordo_disease {source="Orphanet:70594"} synonym: "autosomal recessive sepiapterin reductase-deficient DRD" EXACT [Orphanet:70594] synonym: "dopa-responsive dystonia due to sepiapterin reductase deficiency" EXACT [DOID:0111168] synonym: "DRD due to SRD" EXACT [DOID:0111168, Orphanet:70594] synonym: "dystonia, DOPA-responsive, due to sepiapterin reductase deficiency" RELATED [OMIM:612716] synonym: "DYT-SPR" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK304122/] synonym: "sepiapterin reductase deficiency" EXACT [Orphanet:70594] synonym: "SPR deficiency" EXACT [DOID:0111168, OMIM:612716, Orphanet:70594] synonym: "SRD" EXACT ABBREVIATION [DOID:0111168] xref: DOID:0111168 {source="MONDO:equivalentTo"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562657 {source="MONDO:equivalentTo"} xref: OMIM:612716 {source="Orphanet:70594", source="MONDO:equivalentTo", source="Orphanet:70594/e", source="DOID:0111168"} xref: Orphanet:70594 {source="MONDO:equivalentTo", source="DOID:0111168", source="OMIM:612716"} xref: SCTID:45116002 {source="MONDO:equivalentTo", source="DOID:0111168"} xref: UMLS:C0268468 {source="Orphanet:70594", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:0111168", source="OMIM:612716"} is_a: MONDO:0016812 {source="MONDO:Redundant", source="Orphanet:70594"} ! dopa-responsive dystonia is_a: MONDO:0017756 {source="Orphanet:70594"} ! disorder of pterin metabolism is_a: MONDO:0045014 ! tetrahydrobiopterin metabolic process disease property_value: exactMatch DOID:0111168 property_value: exactMatch http://identifiers.org/mesh/C562657 property_value: exactMatch http://identifiers.org/snomedct/45116002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268468 property_value: exactMatch https://omim.org/entry/612716 property_value: exactMatch Orphanet:70594 [Term] id: MONDO:0012996 name: AGAT deficiency def: "L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy." [Orphanet:35704] subset: ordo_disease {source="Orphanet:35704"} synonym: "AGAT deficiency" EXACT [OMIM:612718, Orphanet:35704] synonym: "arginine:glycine amidinotransferase deficiency" EXACT [DOID:0050712, OMIM:612718] synonym: "CCDS3" EXACT ABBREVIATION [OMIM:612718] synonym: "cerebral creatine deficiency syndrome 3" EXACT [DOID:0050712, MONDO:Lexical, OMIM:612718] synonym: "cerebral creatine deficiency syndrome type 3" EXACT [MONDORULE:1, OMIM:612718] synonym: "creatine deficiency syndrome due to AGAT deficiency" EXACT [OMIM:612718] synonym: "disorder of glycine amidinotransferase activity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "GATM deficiency" EXACT [OMIM:612718] synonym: "glycine amidinotransferase activity disease" EXACT [MONDO:design_pattern] synonym: "L-arginine:glycine amidinotransferase deficiency" EXACT [Orphanet:35704] xref: DOID:0050712 {source="MONDO:equivalentTo"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C567192 {source="MONDO:equivalentTo"} xref: OMIM:612718 {source="Orphanet:35704", source="MONDO:equivalentTo", source="DOID:0050712", source="Orphanet:35704/e"} xref: Orphanet:35704 {source="MONDO:equivalentTo", source="OMIM:612718"} xref: SCTID:702440000 {source="MONDO:equivalentTo"} xref: UMLS:C2675179 {source="Orphanet:35704", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612718"} is_a: MONDO:0000456 {source="DOID:0050712", source="OMIM:612718", source="Orphanet:35704"} ! cerebral creatine deficiency syndrome is_a: MONDO:0045018 ! creatine biosynthetic process disease property_value: exactMatch DOID:0050712 property_value: exactMatch http://identifiers.org/mesh/C567192 property_value: exactMatch http://identifiers.org/snomedct/702440000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675179 property_value: exactMatch https://omim.org/entry/612718 property_value: exactMatch Orphanet:35704 [Term] id: MONDO:0012999 name: guanidinoacetate methyltransferase deficiency def: "Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations." [Orphanet:382] subset: gard_rare {source="GARD:0002578"} subset: ordo_disease {source="Orphanet:382"} synonym: "CCDS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612736] synonym: "cerebral creatine deficiency syndrome 2" EXACT [DOID:0050799, MONDO:Lexical, OMIM:612736] synonym: "cerebral creatine deficiency syndrome type 2" EXACT [MONDORULE:1, OMIM:612736] synonym: "creatine deficiency syndrome due to GAMT deficiency" RELATED [OMIM:612736] synonym: "disorder of guanidinoacetate N-methyltransferase activity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "GAMT deficiency" EXACT [DOID:0050799, OMIM:612736, Orphanet:382] synonym: "guanidinoacetate methyltransferase deficiency" EXACT [OMIM:612736] synonym: "guanidinoacetate N-methyltransferase activity disease" EXACT [MONDO:design_pattern] xref: DOID:0050799 {source="MONDO:equivalentTo"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537622 {source="MONDO:equivalentTo", source="Orphanet:382", source="Orphanet:382/e"} xref: OMIM:612736 {source="DOID:0050799", source="MONDO:equivalentTo", source="Orphanet:382", source="Orphanet:382/e"} xref: Orphanet:382 {source="MONDO:equivalentTo", source="OMIM:612736"} xref: SCTID:124239003 {source="MONDO:equivalentTo"} xref: UMLS:C0574080 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:382", source="OMIM:612736", source="Orphanet:382/e"} is_a: MONDO:0000456 {source="DOID:0050799", source="OMIM:612736", source="Orphanet:382"} ! cerebral creatine deficiency syndrome is_a: MONDO:0045018 ! creatine biosynthetic process disease property_value: exactMatch DOID:0050799 property_value: exactMatch http://identifiers.org/mesh/C537622 property_value: exactMatch http://identifiers.org/snomedct/124239003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0574080 property_value: exactMatch https://omim.org/entry/612736 property_value: exactMatch Orphanet:382 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2578/guanidinoacetate-methyltransferase-deficiency xsd:anyURI {source="GARD:0002578"} [Term] id: MONDO:0013000 name: porphyria due to ALA dehydratase deficiency def: "Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria characterized by neuro-visceral attacks without cutaneous manifestations." [Orphanet:100924] subset: gard_rare subset: ordo_disease {source="Orphanet:100924"} synonym: "5-aminolevulinic acid dehydratase deficiency porphyria" RELATED [GARD:0004445] synonym: "acute hepatic porphyria" EXACT [NCIT:C133887, OMIM:612740] synonym: "ALA dehydratase deficiency pophyria" RELATED [GARD:0004445] synonym: "ALAD deficiency" RELATED [OMIM:612740] synonym: "ALAD porphyria" EXACT [Orphanet:100924] synonym: "aminolevulinate dehydratase deficiency porphyria" RELATED [GARD:0004445] synonym: "Delta-aminolevulinate dehydratase deficiency" RELATED [OMIM:612740] synonym: "Doss porphyria" RELATED [OMIM:612740] synonym: "Lead poisoning, susceptibility to" RELATED [OMIM:612740] synonym: "porphobilinogen synthase deficiency" RELATED [OMIM:612740] synonym: "porphyria due to ALA dehydratase deficiency" EXACT [] synonym: "porphyria due to ALAD deficiency" EXACT [Orphanet:100924] synonym: "porphyria due to delta-aminolevulinate dehydratase deficiency" EXACT [Orphanet:100924] synonym: "porphyria of Doss" EXACT [Orphanet:100924] synonym: "porphyria, acute hepatic" RELATED [OMIM:612740] synonym: "porphyria, ALAD" RELATED [OMIM:612740] xref: MESH:C562618 {source="MONDO:equivalentTo"} xref: NCIT:C133887 {source="MONDO:equivalentTo"} xref: OMIM:612740 {source="Orphanet:100924/e", source="MONDO:equivalentTo", source="Orphanet:100924"} xref: Orphanet:100924 {source="OMIM:612740", source="MONDO:equivalentTo"} is_a: MONDO:0002520 {source="MESH:C562618", source="Orphanet:100924"} ! hepatic porphyria property_value: exactMatch http://identifiers.org/mesh/C562618 property_value: exactMatch https://omim.org/entry/612740 property_value: exactMatch NCIT:C133887 property_value: exactMatch Orphanet:100924 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4445/aminolevulinate-dehydratase-deficiency-porphyria xsd:anyURI {source="GARD:0004445"} [Term] id: MONDO:0013003 name: isolated congenital hypoglossia/aglossia def: "Isolated aglossia and hypoglossia are terms covering the spectrum from partial to total absence of the tongue. These congenital malformations have been classified as part of the group of oromandibular-limb hypogenesis syndromes (OLHS)." [Orphanet:141152] subset: ordo_morphological_anomaly {source="Orphanet:141152"} synonym: "hypoglossia with situs inversus" RELATED [OMIM:612776] synonym: "hypoglossia, isolated" RELATED [OMIM:612776] xref: OMIM:612776 {source="Orphanet:141152", source="MONDO:equivalentTo", source="Orphanet:141152/e"} xref: Orphanet:141152 {source="MONDO:equivalentTo", source="OMIM:612776"} xref: UMLS:C2748587 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612776"} is_a: MONDO:0015497 {source="Orphanet:141152"} ! hypoglossia/aglossia relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748587 property_value: exactMatch https://omim.org/entry/612776 property_value: exactMatch Orphanet:141152 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0013005 name: EAST syndrome def: "SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia)." [Orphanet:199343] subset: ordo_disease {source="Orphanet:199343"} synonym: "EAST syndrome" EXACT [OMIM:612780] synonym: "epilepsy, ataxia, sensorineural deafness and tubulopathy" EXACT [DOID:0060484] synonym: "epilepsy, ataxia, sensorineural deafness, and tubulopathy" RELATED [OMIM:612780] synonym: "seizures - sensorineural deafness - ataxia - intellectual disability - electrolyte imbalance" RELATED [GARD:0010514] synonym: "seizures, sensorineural deafness, ataxia, intellectual disability and electrolyte imbalance" EXACT [DOID:0060484] synonym: "seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance" RELATED [MONDO:Lexical, OMIM:612780] synonym: "seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance" EXACT DEPRECATED [DOID:0060484] synonym: "seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance" RELATED DEPRECATED [MONDO:Lexical, OMIM:612780] synonym: "seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome" EXACT [Orphanet:199343] synonym: "sesame syndrome" EXACT [DOID:0060484, OMIM:612780, Orphanet:199343] synonym: "SESAMES" RELATED DEPRECATED [MONDO:Lexical, OMIM:612780] xref: DOID:0060484 {source="MONDO:equivalentTo"} xref: MESH:C557674 {source="DOID:0060484", source="MONDO:equivalentTo"} xref: OMIM:612780 {source="DOID:0060484", source="Orphanet:199343", source="MONDO:equivalentTo", source="Orphanet:199343/e"} xref: Orphanet:199343 {source="DOID:0060484", source="MONDO:equivalentTo", source="OMIM:612780"} xref: SCTID:721207002 {source="MONDO:equivalentTo"} xref: UMLS:C2748572 {source="DOID:0060484", source="Orphanet:199343", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:199343/e", source="OMIM:612780"} is_a: EFO:0009671 {source="Orphanet:199343"} ! hereditary ataxia is_a: MONDO:0015962 {source="Orphanet:199343"} ! inherited renal tubular disease property_value: exactMatch DOID:0060484 property_value: exactMatch http://identifiers.org/mesh/C557674 property_value: exactMatch http://identifiers.org/snomedct/721207002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748572 property_value: exactMatch https://omim.org/entry/612780 property_value: exactMatch Orphanet:199343 property_value: excluded_subClassOf MONDO:0000508 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0013006 name: isolated growth hormone deficiency type IB def: "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively." [DOID:0060874, PMID:10678654, PMID:8288694, PMID:8528260] subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:231671"} synonym: "congenital IGHD type IB" EXACT [DOID:0060874, Orphanet:231671] synonym: "congenital isolated GH deficiency type IB" EXACT [DOID:0060874, Orphanet:231671] synonym: "congenital isolated growth hormone deficiency type IB" EXACT [DOID:0060874, Orphanet:231671] synonym: "dwarfism of Sindh" EXACT [DOID:0060874, GARD:0003919, OMIM:612781] synonym: "growth hormone deficiency, isolated, type IB" EXACT [OMIM:612781, OMIM:genemap2] synonym: "IGHD 1B" RELATED [GARD:0003919, OMIM:612781] synonym: "IGHD IB" EXACT [DOID:0060874] synonym: "IGHD1B" RELATED ABBREVIATION [GARD:0003919, MONDO:Lexical, OMIM:612781] synonym: "isolated growth hormone deficiency type 1B" RELATED [GARD:0003919] synonym: "isolated Growth hormone deficiency, type 1B" RELATED [OMIM:612781] synonym: "isolated growth hormone deficiency, type IB" RELATED [MONDO:Lexical, OMIM:612781] xref: DOID:0060874 {source="MONDO:equivalentTo"} xref: MESH:C567564 {source="MONDO:equivalentTo"} xref: OMIM:612781 {source="Orphanet:231671", source="MONDO:equivalentTo", source="DOID:0060874", source="Orphanet:231671/e", source="GARD:0003919"} xref: Orphanet:231671 {source="OMIM:612781", source="MONDO:equivalentTo", source="DOID:0060874"} xref: UMLS:C2748571 {source="OMIM:612781", source="Orphanet:231671", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000050 {source="DC-OMIM:612781", source="DOID:0060874", source="Orphanet:231671"} ! isolated congenital growth hormone deficiency property_value: exactMatch DOID:0060874 property_value: exactMatch http://identifiers.org/mesh/C567564 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748571 property_value: exactMatch https://omim.org/entry/612781 property_value: exactMatch Orphanet:231671 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3919/isolated-growth-hormone-deficiency-type-1b xsd:anyURI {source="GARD:0003919"} [Term] id: MONDO:0013007 name: combined immunodeficiency due to ORAI1 deficiency def: "A form of combined immunodeficiency due to Calcium release activated Ca2+ (CRAC) channel dysfunction characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis." [Orphanet:317428] subset: ordo_clinical_subtype {source="Orphanet:317428"} synonym: "CID due to ORAI1 deficiency" EXACT [Orphanet:317428] synonym: "IMD9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612782] synonym: "immune dysfunction with T-cell inactivation due to calcium entry defect 1" RELATED [OMIM:612782] synonym: "immunodeficiency 9" RELATED [MONDO:Lexical, OMIM:612782] synonym: "immunodeficiency type 9" EXACT [MONDORULE:1, OMIM:612782] xref: DOID:0111976 {source="MONDO:equivalentTo"} xref: MESH:C557826 {source="MONDO:equivalentTo"} xref: OMIM:612782 {source="Orphanet:317428", source="MONDO:equivalentTo", source="Orphanet:317428/e"} xref: Orphanet:317428 {source="OMIM:612782", source="MONDO:equivalentTo"} xref: UMLS:C2748568 {source="OMIM:612782", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015695 {source="Orphanet:317428"} ! combined immunodeficiency due to CRAC channel dysfunction property_value: exactMatch DOID:0111976 property_value: exactMatch http://identifiers.org/mesh/C557826 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748568 property_value: exactMatch https://omim.org/entry/612782 property_value: exactMatch Orphanet:317428 [Term] id: MONDO:0013008 name: combined immunodeficiency due to STIM1 deficiency def: "Aform of combined immunodeficiency due to Calcium release activated Ca2+(CRAC) channel dysfunction characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia." [Orphanet:317430] subset: ordo_clinical_subtype {source="Orphanet:317430"} synonym: "CID due to STIM1 deficiency" EXACT [Orphanet:317430] synonym: "IMD10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612783] synonym: "immune dysfunction with T-cell inactivation due to calcium entry defect 2" RELATED [OMIM:612783] synonym: "immunodeficiency 10" RELATED [MONDO:Lexical, OMIM:612783] synonym: "immunodeficiency type 10" EXACT [MONDORULE:2, OMIM:612783] synonym: "STIM1 deficiency" RELATED [OMIM:612783] xref: DOID:0111970 {source="MONDO:equivalentTo"} xref: MESH:C557827 {source="MONDO:equivalentTo"} xref: OMIM:612783 {source="Orphanet:317430/e", source="MONDO:equivalentTo", source="Orphanet:317430"} xref: Orphanet:317430 {source="OMIM:612783", source="MONDO:equivalentTo"} xref: UMLS:C2748557 {source="OMIM:612783", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015695 {source="Orphanet:317430"} ! combined immunodeficiency due to CRAC channel dysfunction property_value: exactMatch DOID:0111970 property_value: exactMatch http://identifiers.org/mesh/C557827 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748557 property_value: exactMatch https://omim.org/entry/612783 property_value: exactMatch Orphanet:317430 [Term] id: MONDO:0013014 name: spondyloepimetaphyseal dysplasia, aggrecan type def: "A spondyloepimetaphyseal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings." [https://orcid.org/0000-0001-5208-3432, Orphanet:171866] subset: gard_rare {source="GARD:0010513"} subset: ordo_disease {source="Orphanet:171866"} synonym: "SEMD, aggrecan type" EXACT [OMIM:612813, Orphanet:171866] synonym: "SEMDAG" RELATED ABBREVIATION [OMIM:612813] synonym: "spondyloepimetaphyseal dysplasia, aggrecan type" EXACT [OMIM:612813] xref: MESH:C567558 {source="MONDO:equivalentTo"} xref: OMIM:612813 {source="Orphanet:171866/e", source="MONDO:equivalentTo", source="Orphanet:171866"} xref: Orphanet:171866 {source="MONDO:equivalentTo", source="OMIM:612813"} xref: SCTID:719165004 {source="MONDO:equivalentTo"} xref: UMLS:C2748544 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612813", source="Orphanet:171866"} is_a: MONDO:0018239 {source="Orphanet:171866", source="PMID:31633310"} ! aggrecan-related bone disorder is_a: MONDO:0100510 {source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia property_value: exactMatch http://identifiers.org/mesh/C567558 property_value: exactMatch http://identifiers.org/snomedct/719165004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748544 property_value: exactMatch https://omim.org/entry/612813 property_value: exactMatch Orphanet:171866 property_value: excluded_subClassOf MONDO:0016761 {source="DC-OMIM:612813", source="Orphanet:171866"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5280 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10513/spondyloepimetaphyseal-dysplasia-aggrecan-type xsd:anyURI {source="GARD:0010513"} [Term] id: MONDO:0013016 name: leukocyte adhesion deficiency 3 def: "Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD characterized by both severe bacterial infections and a severe bleeding disorder." [Orphanet:99844] subset: ordo_clinical_subtype {source="Orphanet:99844"} synonym: "FERMT3 leukocyte adhesion deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "IADD" EXACT ABBREVIATION [DOID:0110912] synonym: "integrin Activation deficiency disease" RELATED [OMIM:612840] synonym: "integrin activation deficiency disease" EXACT [DOID:0110912] synonym: "lad-1 variant" EXACT [Orphanet:99844] synonym: "lad-III" EXACT [Orphanet:99844] synonym: "LAD1 variant" EXACT [DOID:0110912] synonym: "LAD1V" EXACT ABBREVIATION [DOID:0110912] synonym: "LAD3" EXACT ABBREVIATION [DOID:0110912, MONDO:Lexical, OMIM:612840] synonym: "leukocyte adhesion deficiency 1 variant" EXACT [DOID:0110912, OMIM:612840] synonym: "leukocyte adhesion deficiency 3" EXACT [OMIM:612840] synonym: "leukocyte adhesion deficiency caused by mutation in FERMT3" EXACT [MONDO:design_pattern] synonym: "leukocyte adhesion deficiency type 3" EXACT [DOID:0110912, MONDORULE:1] synonym: "leukocyte adhesion deficiency type III" EXACT [DOID:0110912] synonym: "leukocyte adhesion deficiency, type 3" RELATED [OMIM:612840] synonym: "leukocyte adhesion deficiency, type III" RELATED [MONDO:Lexical, OMIM:612840] synonym: "leukocyte adhesion deficiency-1 variant" EXACT [Orphanet:99844] xref: DOID:0110912 {source="MONDO:equivalentTo"} xref: MESH:C567555 {source="MONDO:equivalentTo"} xref: OMIM:612840 {source="DOID:0110912", source="Orphanet:99844", source="MONDO:equivalentTo", source="Orphanet:99844/e"} xref: Orphanet:99844 {source="DOID:0110912", source="OMIM:612840", source="MONDO:equivalentTo"} xref: UMLS:C2748536 {source="OMIM:612840", source="Orphanet:99844", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0017570 {source="DOID:0110912", source="MONDO:Redundant", source="Orphanet:99844"} ! leukocyte adhesion deficiency is_a: MONDO:0019026 ! autosomal recessive osteopetrosis property_value: exactMatch DOID:0110912 property_value: exactMatch http://identifiers.org/mesh/C567555 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748536 property_value: exactMatch https://omim.org/entry/612840 property_value: exactMatch Orphanet:99844 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0013017 name: hypotrichosis 5 def: "A hypotrichosis that has material basis in a mutation on chromosome 1p21.1-q21.3." [DOID:0110702, PMID:16185270] synonym: "hypotrichosis 5" EXACT [MONDO:Lexical, OMIM:612841] synonym: "hypotrichosis type 5" EXACT [DOID:0110702, MONDORULE:1] synonym: "HYPT5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612841] synonym: "hypt5" EXACT [DOID:0110702] synonym: "Marie Unna hereditary hypotrichosis 2" EXACT [DOID:0110702, OMIM:612841] synonym: "Muhh2" EXACT [DOID:0110702] xref: DOID:0110702 {source="MONDO:equivalentTo"} xref: MESH:C567554 {source="MONDO:equivalentTo"} xref: OMIM:612841 {source="DOID:0110702", source="MONDO:equivalentTo"} xref: UMLS:C2748535 {source="OMIM:612841", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018631 {source="https://orcid.org/0000-0001-5493-2602"} ! Marie Unna hereditary hypotrichosis property_value: exactMatch DOID:0110702 property_value: exactMatch http://identifiers.org/mesh/C567554 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748535 property_value: exactMatch https://omim.org/entry/612841 property_value: excluded_subClassOf MONDO:0018631 {source="Orphanet:444/btnt"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6357 xsd:anyURI [Term] id: MONDO:0013021 name: sterile multifocal osteomyelitis with periostitis and pustulosis def: "An autoinflammatory disease caused by mutations in the IL1RN gene, which encodes the IL1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis." [NCIT:C119056] subset: ordo_disease {source="Orphanet:210115"} synonym: "autoinflammatory disease due to interleukin-1 receptor antagonist deficiency" EXACT [Orphanet:210115] synonym: "deficiency of interleukin-1 receptor antagonist" RELATED [GARD:0010516] synonym: "deficiency of the Interleukin-1 receptor antagonist" EXACT [NCIT:C119056] synonym: "DIRA" EXACT ABBREVIATION [Orphanet:210115] synonym: "Interleukin 1 receptor antagonist deficiency" RELATED [OMIM:612852] synonym: "Interleukin-1 receptor antagonist deficiency" EXACT [Orphanet:210115] synonym: "OMPP" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612852, Orphanet:210115] synonym: "osteomyelitis, STERILE multifocal, with periostitis and pustulosis" RELATED [MONDO:Lexical, OMIM:612852] xref: MESH:C557815 {source="MONDO:equivalentTo"} xref: NCIT:C119056 {source="MONDO:equivalentTo"} xref: OMIM:612852 {source="MONDO:equivalentTo", source="Orphanet:210115", source="Orphanet:210115/e"} xref: Orphanet:210115 {source="OMIM:612852", source="MONDO:equivalentTo"} xref: UMLS:C2748507 {source="NCIT:C119056", source="OMIM:612852", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:210115"} is_a: MONDO:0015135 ! primary immunodeficiency due to a genetic defect in innate immunity is_a: MONDO:0017954 {source="Orphanet:210115"} ! pyogenic autoinflammatory syndrome is_a: MONDO:0023603 ! hereditary disorder of connective tissue property_value: exactMatch http://identifiers.org/mesh/C557815 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748507 property_value: exactMatch https://omim.org/entry/612852 property_value: exactMatch NCIT:C119056 property_value: exactMatch Orphanet:210115 [Term] id: MONDO:0013025 name: chromosome 6q24-q25 deletion syndrome def: "6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss." [Orphanet:251056] subset: ordo_malformation_syndrome {source="Orphanet:251056"} synonym: "6q25 microdeletion syndrome" EXACT [DOID:0060424] synonym: "chromosome 6q24-q25 deletion syndrome" EXACT [OMIM:612863] synonym: "chromosome 6q25 microdeletion syndrome" RELATED [GARD:0003764] synonym: "chromosome 6q25-q25 deletion syndrome" EXACT [OMIM:612863, OMIM:genemap2] synonym: "Del(6)(q25)" EXACT [Orphanet:251056] synonym: "del(6q25)" RELATED [NCIT:C36470] synonym: "deletion 6q25" RELATED [GARD:0003764] synonym: "monosomy 6q25" EXACT [DOID:0060424, Orphanet:251056] xref: DOID:0060424 {source="MONDO:equivalentTo"} xref: NCIT:C36470 {source="MONDO:relatedTo", source="MONDO:otherHierarchy"} xref: OMIM:612863 {source="Orphanet:251056", source="DOID:0060424", source="MONDO:equivalentTo", source="Orphanet:251056/e"} xref: Orphanet:251056 {source="OMIM:612863", source="DOID:0060424", source="MONDO:equivalentTo"} xref: SCTID:719663005 {source="MONDO:equivalentTo"} xref: UMLS:C3150215 {source="OMIM:612863", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4304527 {source="MONDO:equivalentTo"} is_a: MONDO:0016905 {source="Orphanet:251056"} ! partial deletion of the long arm of chromosome 6 property_value: exactMatch DOID:0060424 property_value: exactMatch http://identifiers.org/snomedct/719663005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150215 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304527 property_value: exactMatch https://omim.org/entry/612863 property_value: exactMatch Orphanet:251056 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: relatedMatch NCIT:C36470 [Term] id: MONDO:0013026 name: subepithelial mucinous corneal dystrophy def: "Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision." [Orphanet:98959] subset: ordo_disease {source="Orphanet:98959"} synonym: "corneal dystrophy, subepithelial mucinous" RELATED [MONDO:Lexical, OMIM:612867] synonym: "SMCD" EXACT ABBREVIATION [DOID:0060454, MONDO:Lexical, OMIM:612867, Orphanet:98959] synonym: "subepithelial mucinous corneal dystrophy" EXACT [OMIM:612867] xref: DOID:0060454 {source="MONDO:equivalentTo"} xref: MESH:C567547 {source="DOID:0060454", source="MONDO:equivalentTo"} xref: OMIM:612867 {source="Orphanet:98959/e", source="DOID:0060454", source="MONDO:equivalentTo", source="Orphanet:98959"} xref: Orphanet:98959 {source="DOID:0060454", source="MONDO:equivalentTo", source="OMIM:612867"} xref: SCTID:723582004 {source="MONDO:equivalentTo"} xref: UMLS:C2748503 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612867", source="Orphanet:98959"} is_a: MONDO:0000763 {source="DOID:0060454"} ! epithelial and subepithelial corneal dystrophy is_a: MONDO:0020212 {source="Orphanet:98959"} ! superficial corneal dystrophy property_value: exactMatch DOID:0060454 property_value: exactMatch http://identifiers.org/mesh/C567547 property_value: exactMatch http://identifiers.org/snomedct/723582004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748503 property_value: exactMatch https://omim.org/entry/612867 property_value: exactMatch Orphanet:98959 [Term] id: MONDO:0013027 name: posterior amorphous corneal dystrophy def: "Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision." [Orphanet:98971] subset: ordo_disease {source="Orphanet:98971"} synonym: "chromosome 12Q21.33 deletion syndrome" RELATED [OMIM:612868] synonym: "corneal dystrophy, POSTERIOR amorphous" RELATED [MONDO:Lexical, OMIM:612868] synonym: "PACD" EXACT ABBREVIATION [DOID:0060452, MONDO:Lexical, OMIM:612868, Orphanet:98971] synonym: "posterior amorphous corneal dystrophy" EXACT [OMIM:612868] synonym: "posterior amorphous stromal dystrophy" EXACT [Orphanet:98971] xref: DOID:0060452 {source="MONDO:equivalentTo"} xref: MESH:C567546 {source="DOID:0060452", source="MONDO:equivalentTo"} xref: OMIM:612868 {source="Orphanet:98971", source="DOID:0060452", source="MONDO:equivalentTo", source="Orphanet:98971/e"} xref: Orphanet:98971 {source="DOID:0060452", source="MONDO:equivalentTo", source="OMIM:612868"} xref: SCTID:719296002 {source="MONDO:equivalentTo"} xref: UMLS:C2748502 {source="Orphanet:98971", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612868"} is_a: MONDO:0020213 {source="DOID:0060452", source="Orphanet:98971"} ! stromal corneal dystrophy property_value: exactMatch DOID:0060452 property_value: exactMatch http://identifiers.org/mesh/C567546 property_value: exactMatch http://identifiers.org/snomedct/719296002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748502 property_value: exactMatch https://omim.org/entry/612868 property_value: exactMatch Orphanet:98971 [Term] id: MONDO:0013028 name: adenosine monophosphate deaminase deficiency def: "Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterized by exercise-induced muscle pain, cramps and/or early fatigue." [Orphanet:45] subset: ordo_disease {source="Orphanet:45"} synonym: "AMP deaminase deficiency" EXACT [Orphanet:45] synonym: "myoadenylate deaminase deficiency" EXACT [Orphanet:45] xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538234 {source="Orphanet:45", source="MONDO:equivalentTo", source="Orphanet:45/e"} xref: Orphanet:45 {source="OMIM:612874", source="MONDO:equivalentTo"} xref: SCTID:9105005 {source="MONDO:equivalentTo"} is_a: MONDO:0009637 {source="Orphanet:45"} ! inborn mitochondrial myopathy is_a: MONDO:0019236 {source="Orphanet:45"} ! inborn disorder of purine metabolism property_value: exactMatch http://identifiers.org/mesh/C538234 property_value: exactMatch http://identifiers.org/snomedct/9105005 property_value: exactMatch Orphanet:45 [Term] id: MONDO:0013034 name: keratosis palmoplantaris striata 2 def: "Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the DSP gene." [MONDO:patterns/disease_series_by_gene] synonym: "DSP striate palmoplantar keratoderma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "keratoderma, palmoplantar, striate form 2" RELATED [OMIM:612908] synonym: "keratosis palmoplantaris striata II" RELATED [MONDO:Lexical, OMIM:612908] synonym: "keratosis palmoplantaris striata type 2" EXACT [MONDORULE:1, OMIM:612908] synonym: "PPKS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612908] synonym: "striate palmoplantar keratoderma 2" RELATED [OMIM:612908] synonym: "striate palmoplantar keratoderma caused by mutation in DSP" EXACT [MONDO:design_pattern] xref: DOID:0081109 {source="MONDO:equivalentTo"} xref: MESH:C565102 {source="MONDO:equivalentTo"} xref: OMIM:612908 {source="MONDO:equivalentTo"} xref: UMLS:C1852127 {source="OMIM:612908", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018865 {source="MONDO:Redundant", source="Orphanet:50942/btnt"} ! striate palmoplantar keratoderma property_value: exactMatch DOID:0081109 property_value: exactMatch http://identifiers.org/mesh/C565102 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852127 property_value: exactMatch https://omim.org/entry/612908 [Term] id: MONDO:0013035 name: orofaciodigital syndrome XI def: "Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." [Orphanet:141000] subset: gard_rare {source="GARD:0004118"} subset: ordo_malformation_syndrome {source="Orphanet:141000"} synonym: "Gabrielli syndrome" RELATED [OMIM:612913] synonym: "OFD syndrome 11" RELATED [GARD:0004118] synonym: "OFD11" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612913, Orphanet:141000] synonym: "Ofds 11" RELATED [OMIM:612913] synonym: "oral facial digital syndrome 11" RELATED [GARD:0004118] synonym: "oral facial digital syndrome type 11" RELATED [GARD:0004118] synonym: "oral-facial-digital syndrome type 11" EXACT [Orphanet:141000] synonym: "oral-Facial-digital syndrome with skeletal anomalies" RELATED [OMIM:612913] synonym: "oral-facial-digital syndrome, Gabrielli type" EXACT [Orphanet:141000] synonym: "oral-Facial-digital syndrome, type 11" RELATED [OMIM:612913] synonym: "orofaciodigital syndrome 11" RELATED [GARD:0004118] synonym: "orofaciodigital syndrome type 11" RELATED [Orphanet:141000] synonym: "orofaciodigital syndrome type XI" EXACT [DOID:0060381, MONDORULE:3] synonym: "orofaciodigital syndrome XI" EXACT [MONDO:Lexical, OMIM:612913] synonym: "orofaciodigital syndrome, Gabrielli type" EXACT [Orphanet:141000] xref: DOID:0060381 {source="MONDO:equivalentTo"} xref: MESH:C557821 {source="MONDO:equivalentTo", source="DOID:0060381"} xref: OMIM:612913 {source="Orphanet:141000", source="MONDO:equivalentTo", source="Orphanet:141000/e", source="DOID:0060381"} xref: Orphanet:141000 {source="MONDO:equivalentTo", source="OMIM:612913", source="DOID:0060381"} xref: SCTID:718681002 {source="MONDO:equivalentTo"} is_a: MONDO:0015375 {source="DC-OMIM:612913", source="DOID:0060381", source="MESH:C557821", source="Orphanet:141000"} ! orofaciodigital syndrome property_value: exactMatch DOID:0060381 property_value: exactMatch http://identifiers.org/mesh/C557821 property_value: exactMatch http://identifiers.org/snomedct/718681002 property_value: exactMatch https://omim.org/entry/612913 property_value: exactMatch Orphanet:141000 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4118/orofaciodigital-syndrome-11 xsd:anyURI {source="GARD:0004118"} [Term] id: MONDO:0013036 name: Zechi-Ceide syndrome subset: gard_rare {source="GARD:0010582"} subset: ordo_malformation_syndrome {source="Orphanet:217017"} synonym: "occipital atretic cephalocele, unusual facies and large feet" RELATED [GARD:0010582] synonym: "occipital atretic cephalocele, unusual facies, and large feet" RELATED [OMIM:612916] synonym: "occipital atretic cephalocele-unusual facies-large feet syndrome" EXACT [Orphanet:217017] synonym: "Zechi Ceide syndrome" RELATED [GARD:0010582] synonym: "Zechi-Ceide syndrome" EXACT [OMIM:612916] xref: MESH:C567865 {source="MONDO:equivalentTo"} xref: OMIM:612916 {source="Orphanet:217017", source="MONDO:equivalentTo", source="Orphanet:217017/e"} xref: Orphanet:217017 {source="MONDO:equivalentTo", source="OMIM:612916"} xref: UMLS:C2752047 {source="Orphanet:217017", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612916"} is_a: MONDO:0015159 {source="Orphanet:217017"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/mesh/C567865 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2752047 property_value: exactMatch https://omim.org/entry/612916 property_value: exactMatch Orphanet:217017 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:217017"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10582/zechi-ceide-syndrome xsd:anyURI {source="GARD:0010582"} [Term] id: MONDO:0013038 name: CLOVES syndrome def: "A syndromic disease characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi." [https://orcid.org/0000-0001-5208-3432, Orphanet:140944] subset: ordo_malformation_syndrome {source="Orphanet:140944"} synonym: "CLOVE syndrome" RELATED [OMIM:612918] synonym: "CLOVE syndrome, somatic" EXACT [OMIM:612918, OMIM:genemap2] synonym: "CLOVES syndrome" EXACT [OMIM:612918] synonym: "congenital lipomatous overgrowth - vascular malformation - epidermal nevi" RELATED [GARD:0010939] synonym: "congenital lipomatous overgrowth, vascular malformations, and EPIDERMAL nevi" RELATED [OMIM:612918] synonym: "congenital lipomatous overgrowth, vascular malformations, and epidermal nevi" EXACT [DOID:0080351] synonym: "congenital lipomatous overgrowth, vascular malformations, Epidermal nevi, and skeletal/spinal abnormalities" RELATED [OMIM:612918] synonym: "congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome" EXACT [Orphanet:140944] synonym: "congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome" EXACT [Orphanet:140944] xref: DOID:0080351 {source="MONDO:equivalentTo"} xref: MESH:C567863 {source="MONDO:equivalentTo"} xref: OMIM:612918 {source="DOID:0080351", source="Orphanet:140944/e", source="MONDO:equivalentTo", source="Orphanet:140944"} xref: Orphanet:140944 {source="OMIM:612918", source="DOID:0080351", source="MONDO:equivalentTo"} xref: SCTID:719475006 {source="MONDO:equivalentTo"} xref: UMLS:C2752042 {source="OMIM:612918", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0009675 {source="Orphanet:140944"} ! melanocytic nevus is_a: MONDO:0000629 ! cardiovascular organ benign neoplasm is_a: MONDO:0000631 ! bone benign neoplasm is_a: MONDO:0002254 {source="DOID:0080351"} ! syndromic disease is_a: MONDO:0015950 {source="Orphanet:140944"} ! inherited skin tumor is_a: MONDO:0016229 {source="MONDO:Entailed", source="Orphanet:140944", source="Orphanet:140944/inferred"} ! hereditary vascular anomaly is_a: MONDO:0019296 {source="Orphanet:140944"} ! subcutaneous tissue disorder is_a: MONDO:0023603 ! hereditary disorder of connective tissue is_a: MONDO:0024499 ! vascular bone neoplasm is_a: MONDO:0035162 {source="https://orcid.org/0000-0003-1493-865X"} ! PIK3CA-related overgrowth syndrome is_a: MONDO:0800091 {source="PMID:31633310"} ! overgrowth or tall stature syndrome with skeletal involvement property_value: exactMatch DOID:0080351 property_value: exactMatch http://identifiers.org/mesh/C567863 property_value: exactMatch http://identifiers.org/snomedct/719475006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2752042 property_value: exactMatch https://omim.org/entry/612918 property_value: exactMatch Orphanet:140944 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5210 xsd:anyURI [Term] id: MONDO:0013040 name: atypical hemolytic-uremic syndrome with MCP/CD46 anomaly subset: ordo_etiological_subtype {source="Orphanet:93576"} subset: predisposition synonym: "aHUS with MCP/CD46 anomaly" EXACT [Orphanet:93576] synonym: "AHUS, susceptibility to, 2" RELATED [OMIM:612922] synonym: "AHUS2" RELATED ABBREVIATION [OMIM:612922] synonym: "aHUS2" RELATED [MONDO:Lexical, OMIM:612922] synonym: "atypical HUS with MCP/CD46 anomaly" EXACT [Orphanet:93576] synonym: "D-HUS with MCP/CD46 anomaly" EXACT [Orphanet:93576] synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 2" RELATED [MONDO:Lexical, OMIM:612922] synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:612922] synonym: "hemolytic-uremic syndrome without diarrhea with MCP/CD46 anomaly" EXACT [Orphanet:93576] synonym: "hemolytic-uremic syndrome without diarrhoea with MCP/CD46 anomaly" EXACT OMO:0003005 [] synonym: "susceptibility to atypical hemolytic uremic syndrome 2" RELATED [OMIM:612922] xref: OMIM:612922 {source="MONDO:equivalentTo", source="Orphanet:93576", source="Orphanet:93576/e"} xref: Orphanet:93576 {source="MONDO:equivalentObsolete", source="OMIM:612922"} is_a: MONDO:0035290 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! atypical hemolytic uremic syndrome with complement gene abnormality property_value: exactMatch https://omim.org/entry/612922 [Term] id: MONDO:0013041 name: atypical hemolytic-uremic syndrome with I factor anomaly subset: ordo_etiological_subtype {source="Orphanet:93580"} subset: predisposition synonym: "aHUS with I factor anomaly" EXACT [Orphanet:93580] synonym: "aHUS, susceptibility to, 3" RELATED [OMIM:612923] synonym: "AHUS3" RELATED ABBREVIATION [OMIM:612923] synonym: "aHUS3" RELATED [MONDO:Lexical, OMIM:612923] synonym: "atypical HUS with I factor anomaly" EXACT [Orphanet:93580] synonym: "D-HUS with I factor anomaly" EXACT [Orphanet:93580] synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 3" RELATED [MONDO:Lexical, OMIM:612923] synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:612923] synonym: "hemolytic-uremic syndrome without diarrhea with I factor anomaly" EXACT [Orphanet:93580] synonym: "hemolytic-uremic syndrome without diarrhoea with I factor anomaly" EXACT OMO:0003005 [] synonym: "susceptibility to atypical hemolytic uremic syndrome 3" RELATED [OMIM:612923] xref: OMIM:612923 {source="Orphanet:93580/e", source="MONDO:equivalentTo", source="Orphanet:93580"} xref: Orphanet:93580 {source="MONDO:equivalentObsolete", source="OMIM:612923"} is_a: MONDO:0035290 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! atypical hemolytic uremic syndrome with complement gene abnormality property_value: exactMatch https://omim.org/entry/612923 [Term] id: MONDO:0013042 name: atypical hemolytic-uremic syndrome with B factor anomaly subset: ordo_etiological_subtype {source="Orphanet:93578"} subset: predisposition synonym: "aHUS with B factor anomaly" EXACT [Orphanet:93578] synonym: "aHUS, susceptibility to, 4" RELATED [OMIM:612924] synonym: "AHUS4" RELATED ABBREVIATION [OMIM:612924] synonym: "aHUS4" RELATED [MONDO:Lexical, OMIM:612924] synonym: "atypical HUS with B factor anomaly" EXACT [Orphanet:93578] synonym: "D-HUS with B factor anomaly" EXACT [Orphanet:93578] synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 4" RELATED [MONDO:Lexical, OMIM:612924] synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:612924] synonym: "hemolytic-uremic syndrome without diarrhea with B factor anomaly" EXACT [Orphanet:93578] synonym: "hemolytic-uremic syndrome without diarrhoea with B factor anomaly" EXACT OMO:0003005 [] synonym: "susceptibility to atypical hemolytic uremic syndrome 4" RELATED [OMIM:612924] xref: OMIM:612924 {source="MONDO:equivalentTo", source="Orphanet:93578", source="Orphanet:93578/e"} xref: Orphanet:93578 {source="MONDO:equivalentObsolete", source="OMIM:612924"} is_a: MONDO:0035290 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! atypical hemolytic uremic syndrome with complement gene abnormality property_value: exactMatch https://omim.org/entry/612924 [Term] id: MONDO:0013043 name: atypical hemolytic-uremic syndrome with C3 anomaly subset: ordo_etiological_subtype {source="Orphanet:93575"} subset: predisposition synonym: "aHUS with C3 anomaly" EXACT [Orphanet:93575] synonym: "Ahus, susceptibility to, 5" RELATED [OMIM:612925] synonym: "AHUS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612925] synonym: "atypical HUS with C3 anomaly" EXACT [Orphanet:93575] synonym: "D-HUS with C3 anomaly" EXACT [Orphanet:93575] synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 5" RELATED [MONDO:Lexical, OMIM:612925] synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:612925] synonym: "hemolytic-uremic syndrome without diarrhea with C3 anomaly" EXACT [Orphanet:93575] synonym: "hemolytic-uremic syndrome without diarrhoea with C3 anomaly" EXACT OMO:0003005 [] synonym: "susceptibility to atypical hemolytic uremic syndrome 5" RELATED [OMIM:612925] xref: OMIM:612925 {source="Orphanet:93575", source="MONDO:equivalentTo", source="Orphanet:93575/e"} xref: Orphanet:93575 {source="MONDO:equivalentObsolete", source="OMIM:612925"} is_a: MONDO:0035290 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! atypical hemolytic uremic syndrome with complement gene abnormality property_value: exactMatch https://omim.org/entry/612925 [Term] id: MONDO:0013044 name: atypical hemolytic-uremic syndrome with thrombomodulin anomaly subset: ordo_etiological_subtype {source="Orphanet:217023"} subset: predisposition synonym: "aHUS with thrombomodulin anomaly" EXACT [Orphanet:217023] synonym: "Ahus, susceptibility to, 6" RELATED [OMIM:612926] synonym: "AHUS6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612926] synonym: "atypical HUS with thrombomodulin anomaly" EXACT [Orphanet:217023] synonym: "D-HUS with thrombomodulin anomaly" EXACT [Orphanet:217023] synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 6" RELATED [MONDO:Lexical, OMIM:612926] synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:612926] synonym: "hemolytic-uremic syndrome without diarrhea with thrombomodulin anomaly" EXACT [Orphanet:217023] synonym: "hemolytic-uremic syndrome without diarrhoea with thrombomodulin anomaly" EXACT OMO:0003005 [] synonym: "susceptibility to atypical hemolytic uremic syndrome 6" RELATED [OMIM:612926] xref: OMIM:612926 {source="Orphanet:217023/e", source="MONDO:equivalentTo", source="Orphanet:217023"} xref: Orphanet:217023 {source="MONDO:equivalentObsolete", source="OMIM:612926"} is_a: MONDO:0035290 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! atypical hemolytic uremic syndrome with complement gene abnormality property_value: exactMatch https://omim.org/entry/612926 [Term] id: MONDO:0013046 name: glycogen storage disease due to muscle beta-enolase deficiency def: "Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle." [Orphanet:99849] subset: ordo_disease {source="Orphanet:99849"} synonym: "enolase 3 deficiency" RELATED [OMIM:612932] synonym: "enolase-Beta deficiency" RELATED [OMIM:612932] synonym: "glycogen storage disease 13" RELATED [GARD:0002125, OMIM:612932] synonym: "glycogen storage disease due to muscle beta-enolase deficiency" EXACT [] synonym: "glycogen storage disease type 13" EXACT [MONDORULE:2, OMIM:612932] synonym: "glycogen storage disease XIII" RELATED [MONDO:Lexical, OMIM:612932] synonym: "glycogenosis due to muscle beta-enolase deficiency" EXACT [Orphanet:99849] synonym: "glycogenosis type 13" EXACT [Orphanet:99849] synonym: "GSD 13" RELATED [OMIM:612932] synonym: "GSD due to muscle beta-enolase deficiency" EXACT [Orphanet:99849] synonym: "GSD13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612932] synonym: "GSDXIII" EXACT ABBREVIATION [Orphanet:99849] synonym: "muscle enolase deficiency" EXACT [Orphanet:99849] synonym: "muscular enolase deficiency" EXACT [Orphanet:99849] xref: MESH:C567861 {source="MONDO:equivalentTo"} xref: OMIM:612932 {source="MONDO:equivalentTo", source="Orphanet:99849", source="Orphanet:99849/e"} xref: Orphanet:99849 {source="MONDO:equivalentTo", source="OMIM:612932"} xref: UMLS:C2752027 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:99849", source="OMIM:612932"} is_a: MONDO:0002412 {source="DC-OMIM:612932", source="MESH:C567861", source="Orphanet:99849"} ! disorder of glycogen metabolism is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis property_value: exactMatch http://identifiers.org/mesh/C567861 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2752027 property_value: exactMatch https://omim.org/entry/612932 property_value: exactMatch Orphanet:99849 property_value: excluded_subClassOf MONDO:0016118 {source="Orphanet:99849"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0013047 name: glycogen storage disease due to lactate dehydrogenase M-subunit deficiency def: "A condition that affects how the body breaks down sugar to use as energy in muscle cells. People withthis conditionexperience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people,high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis), which can lead to myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) and kidney damage. A skin rash may also develop. The severity of the signs and symptoms varies greatly among affected individuals. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. This condition is inherited in an autosomal recessive pattern." [GARD:0003160] subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:284426"} synonym: "glycogen storage disease caused by mutation in LDHA" EXACT [MONDO:design_pattern] synonym: "glycogen storage disease type 11" RELATED AMBIGUOUS [MONDORULE:2, OMIM:612933, Orphanet:284426] synonym: "glycogen storage disease XI" RELATED AMBIGUOUS [GARD:0003160, MESH:C538133, OMIM:612933] synonym: "glycogenosis due to lactate dehydrogenase M-subunit deficiency" EXACT [Orphanet:284426] synonym: "glycogenosis type 11" RELATED AMBIGUOUS [Orphanet:284426] synonym: "GSD 11" RELATED AMBIGUOUS [OMIM:612933] synonym: "GSD due to lactate dehydrogenase M-subunit deficiency" EXACT [Orphanet:284426] synonym: "GSD type 11" RELATED AMBIGUOUS [Orphanet:284426] synonym: "GSD XI" RELATED [MESH:C538133] synonym: "GSD11" RELATED AMBIGUOUS [MESH:C538133, OMIM:612933] synonym: "lactate dehydrogenase A deficiency" EXACT [MESH:C538133, OMIM:612933, Orphanet:284426] synonym: "lactate dehydrogenase deficiency type A" RELATED [GARD:0003160] synonym: "LDH-M subunit deficiency" EXACT [Orphanet:284426] synonym: "LDHA glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: HGNC:6535 {source="GARD:0003160"} xref: ICD9:271.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538133 {source="MONDO:equivalentTo"} xref: OMIM:612933 {source="Orphanet:284426/e", source="MONDO:equivalentTo", source="Orphanet:284426"} xref: Orphanet:284426 {source="MONDO:equivalentTo", source="OMIM:612933"} xref: SCTID:237982007 {source="MONDO:equivalentTo"} is_a: MONDO:0002412 {source="MESH:C538133", source="MONDO:Redundant", source="Orphanet:284426/inferred"} ! disorder of glycogen metabolism is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis property_value: exactMatch http://identifiers.org/mesh/C538133 property_value: exactMatch http://identifiers.org/snomedct/237982007 property_value: exactMatch https://omim.org/entry/612933 property_value: exactMatch Orphanet:284426 property_value: excluded_subClassOf MONDO:0016118 {source="Orphanet:284426"} property_value: excluded_subClassOf MONDO:0016527 {source="Orphanet:284426"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3160/lactate-dehydrogenase-a-deficiency xsd:anyURI {source="GARD:0003160"} [Term] id: MONDO:0013048 name: hereditary spastic paraplegia 50 def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4M1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "AP4M1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive spastic paraplegia 50" EXACT [DOID:0110802] synonym: "cerebral palsy, spastic quadriplegic, 3" RELATED [OMIM:612936] synonym: "cerebral palsy, spastic quadriplegic, 3, formerly" RELATED [OMIM:612936] synonym: "hereditary spastic paraplegia caused by mutation in AP4M1" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 50" EXACT [DOID:0110802, MONDORULE:2] synonym: "spastic paraplegia 50, autosomal recessive" RELATED [MONDO:Lexical, OMIM:612936] synonym: "SPG50" EXACT ABBREVIATION [DOID:0110802, MONDO:Lexical, OMIM:612936] xref: DOID:0110802 {source="MONDO:equivalentTo"} xref: MESH:C567858 {source="MONDO:equivalentTo"} xref: OMIM:612936 {source="DOID:0110802", source="MONDO:equivalentTo"} xref: UMLS:C2752008 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612936"} is_a: MONDO:0017241 {source="Orphanet:280763/btnt"} ! AP4-related intellectual disability and spastic paraplegia property_value: exactMatch DOID:0110802 property_value: exactMatch http://identifiers.org/mesh/C567858 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2752008 property_value: exactMatch https://omim.org/entry/612936 [Term] id: MONDO:0013049 name: DPM3-congenital disorder of glycosylation def: "DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy." [Orphanet:263494] subset: ordo_disease {source="Orphanet:263494"} synonym: "carbohydrate deficient glycoprotein syndrome type Io" EXACT [Orphanet:263494] synonym: "CDG Io" RELATED [OMIM:612937] synonym: "CDG syndrome type Io" EXACT [Orphanet:263494] synonym: "CDG-Io" EXACT [Orphanet:263494] synonym: "Cdg1(Dpm3)" RELATED [OMIM:612937] synonym: "CDG1O" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612937, Orphanet:263494] synonym: "CDGIo" RELATED [GARD:0012395] synonym: "congenital disorder of glycosylation type 1o" EXACT [Orphanet:263494] synonym: "congenital disorder of glycosylation type Io" EXACT [Orphanet:263494] synonym: "congenital disorder of glycosylation, type Io" RELATED [MONDO:Lexical, OMIM:612937] synonym: "DG1O" RELATED ABBREVIATION [GARD:0012395] synonym: "DPM3-CDG" EXACT ABBREVIATION [Orphanet:263494] synonym: "DPM3-CDG (CDG-Io)" RELATED [GARD:0012395] synonym: "DPM3-congenital disorder of glycosylation" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15" EXACT [OMIM:612937, OMIM:genemap2] xref: MESH:C567857 {source="MONDO:equivalentTo"} xref: OMIM:612937 {source="Orphanet:263494", source="MONDO:equivalentTo", source="Orphanet:263494/e"} xref: Orphanet:263494 {source="MONDO:equivalentTo", source="OMIM:612937"} xref: SCTID:725044000 {source="MONDO:equivalentTo"} xref: UMLS:C2752007 {source="Orphanet:263494", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612937"} is_a: EFO:0005545 {source="DC-OMIM:612937"} ! congenital disorder of glycosylation type I is_a: MONDO:0016333 ! familial dilated cardiomyopathy is_a: MONDO:0017749 {source="Orphanet:263494"} ! disorder of multiple glycosylation is_a: MONDO:0018276 {source="Orphanet:263494"} ! muscular dystrophy-dystroglycanopathy property_value: exactMatch http://identifiers.org/mesh/C567857 property_value: exactMatch http://identifiers.org/snomedct/725044000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2752007 property_value: exactMatch https://omim.org/entry/612937 property_value: exactMatch Orphanet:263494 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013050 name: lethal polymalformative syndrome, Boissel type subset: ordo_malformation_syndrome {source="Orphanet:210144"} synonym: "GDFD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612938] synonym: "growth retardation, developmental delay, and facial dysmorphism" RELATED [MONDO:Lexical, OMIM:612938] synonym: "growth retardation, developmental delay, facial dysmorphism" EXACT [OMIM:612938, OMIM:genemap2] xref: MESH:C567856 {source="MONDO:equivalentTo"} xref: OMIM:612938 {source="Orphanet:210144", source="MONDO:equivalentTo", source="Orphanet:210144/e"} xref: Orphanet:210144 {source="MONDO:equivalentTo", source="OMIM:612938"} is_a: MONDO:0018731 {source="Orphanet:210144"} ! lethal multiple congenital anomalies/dysmorphic syndrome is_a: MONDO:0043009 {source="Orphanet:210144"} ! hereditary lethal multiple congenital anomalies/dysmorphic syndrome relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C567856 property_value: exactMatch https://omim.org/entry/612938 property_value: exactMatch Orphanet:210144 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013051 name: autosomal recessive cutis laxa type 2B def: "Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported." [Orphanet:357064] subset: gard_rare {source="GARD:0001641"} subset: ordo_disease {source="Orphanet:357064"} synonym: "ARCL2, progeroid type" EXACT [DOID:0070137, Orphanet:357064] synonym: "ARCL2B" EXACT ABBREVIATION [DOID:0070137, MONDO:Lexical, OMIM:612940, Orphanet:357064] synonym: "autosomal recessive cutis laxa type 2 caused by mutation in PYCR1" EXACT [MONDO:design_pattern] synonym: "autosomal recessive cutis laxa type 2, progeroid type" EXACT [Orphanet:357064] synonym: "autosomal recessive cutis laxa type 2B" EXACT [] synonym: "autosomal recessive cutis laxa type IIB" RELATED [DOID:0070137] synonym: "cutis laxa with progeroid features" RELATED [OMIM:612940] synonym: "cutis laxa, autosomal recessive type 2B" RELATED [GARD:0001641] synonym: "cutis laxa, autosomal recessive, type 2B" RELATED [OMIM:612940] synonym: "cutis laxa, autosomal recessive, type IIB" RELATED [MONDO:Lexical, OMIM:612940] synonym: "PYCR1 autosomal recessive cutis laxa type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070137 {source="MONDO:equivalentTo"} xref: MESH:C567855 {source="MONDO:equivalentTo"} xref: OMIM:612940 {source="Orphanet:357064/e", source="DOID:0070137", source="MONDO:equivalentTo", source="Orphanet:357064"} xref: Orphanet:357064 {source="OMIM:612940", source="DOID:0070137", source="MONDO:equivalentTo"} xref: UMLS:C2751987 {source="OMIM:612940", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:357064"} is_a: MONDO:0019573 {source="MONDO:Redundant", source="Orphanet:357064"} ! autosomal recessive cutis laxa type 2 is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. property_value: exactMatch DOID:0070137 property_value: exactMatch http://identifiers.org/mesh/C567855 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751987 property_value: exactMatch https://omim.org/entry/612940 property_value: exactMatch Orphanet:357064 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1641/cutis-laxa-autosomal-recessive-type-2b xsd:anyURI {source="GARD:0001641"} [Term] id: MONDO:0013053 name: microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type def: "Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities." [Orphanet:217026] subset: ordo_malformation_syndrome {source="Orphanet:217026"} synonym: "Hadziselimovic syndrome" EXACT [OMIM:612946, Orphanet:217026] synonym: "microcephaly-faciocardioskeletal syndrome" EXACT [OMIM:612946, Orphanet:217026] xref: MESH:C567850 {source="MONDO:equivalentTo"} xref: OMIM:612946 {source="Orphanet:217026/e", source="MONDO:equivalentTo", source="Orphanet:217026"} xref: Orphanet:217026 {source="MONDO:equivalentTo", source="OMIM:612946"} xref: SCTID:719395001 {source="MONDO:equivalentTo"} xref: UMLS:C2751878 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612946", source="Orphanet:217026"} is_a: EFO:0003777 {source="MONDO:0015506-obsoleted"} ! heart disease is_a: MONDO:0015161 {source="Orphanet:217026"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C567850 property_value: exactMatch http://identifiers.org/snomedct/719395001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751878 property_value: exactMatch https://omim.org/entry/612946 property_value: exactMatch Orphanet:217026 [Term] id: MONDO:0013056 name: developmental and epileptic encephalopathy, 39 def: "A rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease." [Orphanet:353217] subset: ordo_disease {source="Orphanet:353217"} synonym: "AGC1 deficiency" EXACT [DOID:0080349] synonym: "aspartate-glutamate carrier 1 deficiency" RELATED [OMIM:612949] synonym: "DEE39" EXACT ABBREVIATION [OMIM:612949] synonym: "developmental and epileptic encephalopathy 39" EXACT [OMIM:612949, OMIM:genemap2] synonym: "early infantile epileptic encephalopathy caused by mutation in SLC25A12" EXACT [Orphanet:353217] synonym: "EIEE39" EXACT ABBREVIATION [OMIM:612949] synonym: "epileptic encephalopathy with global cerebral demyelination" EXACT [DOID:0080349] synonym: "epileptic encephalopathy, early infantile, 39" EXACT [OMIM:612949] synonym: "hypomyelination, global cerebral" RELATED [OMIM:612949] synonym: "mitochondrial aspartate-glutamate carrier 1 deficiency" EXACT [DOID:0080349, Orphanet:353217] synonym: "SLC25A12 early infantile epileptic encephalopathy" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0080349 {source="MONDO:equivalentTo"} xref: MESH:C567847 {source="MONDO:equivalentTo"} xref: OMIM:612949 {source="MONDO:equivalentTo", source="Orphanet:353217", source="DOID:0080349", source="Orphanet:353217/e"} xref: Orphanet:353217 {source="MONDO:equivalentTo", source="DOID:0080349", source="OMIM:612949"} xref: SCTID:726702005 {source="MONDO:equivalentTo"} xref: UMLS:C2751855 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612949"} xref: UMLS:C4512050 {source="MONDO:equivalentTo"} is_a: MONDO:0016801 {source="Orphanet:353217"} ! mitochondrial substrate carrier disorder is_a: MONDO:0100455 ! neonatal-onset developmental and epileptic encephalopathy property_value: exactMatch DOID:0080349 property_value: exactMatch http://identifiers.org/mesh/C567847 property_value: exactMatch http://identifiers.org/snomedct/726702005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751855 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4512050 property_value: exactMatch https://omim.org/entry/612949 property_value: exactMatch Orphanet:353217 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013058 name: cystic leukoencephalopathy without megalencephaly def: "Cystic leukoencephalopathy without megalencephaly is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive." [Orphanet:85136] subset: ordo_disease {source="Orphanet:85136"} synonym: "CLWM" EXACT ABBREVIATION [Orphanet:85136] synonym: "leukoencephalopathy, cystic, without megalencephaly" RELATED [OMIM:612951] synonym: "RNAse T2-deficient leukoencephalopathy" RELATED [GARD:0013199] xref: DOID:0081007 {source="MONDO:equivalentTo"} xref: MESH:C567845 {source="Orphanet:85136", source="MONDO:equivalentTo", source="Orphanet:85136/e"} xref: OMIM:612951 {source="Orphanet:85136", source="MONDO:equivalentTo", source="Orphanet:85136/e"} xref: Orphanet:85136 {source="OMIM:612951", source="MONDO:equivalentTo"} xref: SCTID:720825005 {source="MONDO:equivalentTo"} xref: UMLS:C2751843 {source="Orphanet:85136", source="OMIM:612951", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:85136/e"} is_a: MONDO:0019046 {source="Orphanet:85136"} ! leukodystrophy property_value: exactMatch DOID:0081007 property_value: exactMatch http://identifiers.org/mesh/C567845 property_value: exactMatch http://identifiers.org/snomedct/720825005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751843 property_value: exactMatch https://omim.org/entry/612951 property_value: exactMatch Orphanet:85136 [Term] id: MONDO:0013060 name: autosomal recessive Parkinson disease 14 def: "A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." [Orphanet:199351] subset: ordo_disease {source="Orphanet:199351"} synonym: "adult-onset dystonia - parkinsonism" RELATED [Orphanet:199351] synonym: "autosomal recessive Parkinson disease type 14" EXACT [DOID:0060900, MONDORULE:2] synonym: "autosomal recessive Parkinson's disease 14" RELATED [DOID:0060900] synonym: "dystonia-Parkinsonism Adult-onset" EXACT [DOID:0060900] synonym: "dystonia-Parkinsonism, adult-onset" RELATED [OMIM:612953] synonym: "dystonia-parkinsonism, Paisan-Ruiz type" EXACT [Orphanet:199351] synonym: "hereditary late onset Parkinson disease caused by mutation in PLA2G6" EXACT [MONDO:design_pattern] synonym: "PARK14" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612953, Orphanet:199351] synonym: "Parkinson disease 14, autosomal recessive" RELATED [MONDO:Lexical, OMIM:612953] synonym: "PLA2G6 hereditary late onset Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "PLA2G6-related dystonia-parkinsonism" EXACT [Orphanet:199351] xref: DOID:0060900 {source="MONDO:equivalentTo"} xref: MESH:C567844 {source="MONDO:equivalentTo"} xref: OMIM:612953 {source="Orphanet:199351", source="MONDO:equivalentTo", source="Orphanet:199351/e", source="DOID:0060900"} xref: Orphanet:199351 {source="MONDO:equivalentTo", source="OMIM:612953"} xref: SCTID:720466001 {source="MONDO:equivalentTo"} xref: UMLS:C2751842 {source="Orphanet:199351", source="MONDO:equivalentTo", source="OMIM:612953", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0008199 {source="DOID:0060900", source="MONDO:Redundant", source="Orphanet:411602"} ! late-onset Parkinson disease is_a: MONDO:0017998 {source="Orphanet:199351", source="https://orcid.org/0000-0001-5208-3432"} ! PLA2G6-associated neurodegeneration property_value: exactMatch DOID:0060900 property_value: exactMatch http://identifiers.org/mesh/C567844 property_value: exactMatch http://identifiers.org/snomedct/720466001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751842 property_value: exactMatch https://omim.org/entry/612953 property_value: exactMatch Orphanet:199351 property_value: excluded_subClassOf MONDO:0018329 {source="Orphanet:199351"} [Term] id: MONDO:0013061 name: myofibrillar myopathy 6 def: "Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly." [Orphanet:199340] subset: ordo_disease {source="Orphanet:199340"} synonym: "BAG3 myofibrillar myopathy (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "BAG3-related myofibrillar myopathy" RELATED [DOID:0080097] synonym: "MFM6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612954] synonym: "muscular dystrophy, Selcen type" RELATED [Orphanet:199340] synonym: "myofibrillar myopathy (disease) caused by mutation in BAG3" EXACT [] synonym: "myofibrillar myopathy 6" EXACT [] synonym: "myofibrillar myopathy type 6" EXACT [DOID:0080097, MONDORULE:1] synonym: "myopathy, myofibrillar, 6" RELATED [MONDO:Lexical, OMIM:612954] synonym: "myopathy, myofibrillar, Bag3-related" RELATED [OMIM:612954] synonym: "myopathy, myofibrillar, type 6" EXACT [MONDORULE:1, OMIM:612954] xref: DOID:0080097 {source="MONDO:equivalentTo"} xref: MESH:C567843 {source="MONDO:equivalentTo"} xref: OMIM:612954 {source="DOID:0080097", source="Orphanet:199340", source="MONDO:equivalentTo", source="Orphanet:199340/e"} xref: Orphanet:199340 {source="MONDO:equivalentTo", source="OMIM:612954"} is_a: MONDO:0018943 {source="MONDO:Redundant", source="OMIM:612954", source="Orphanet:199340"} ! myofibrillar myopathy property_value: exactMatch DOID:0080097 property_value: exactMatch http://identifiers.org/mesh/C567843 property_value: exactMatch https://omim.org/entry/612954 property_value: exactMatch Orphanet:199340 [Term] id: MONDO:0013062 name: long QT syndrome 12 def: "Any long QT syndrome in which the cause of the disease is a mutation in the SNTA1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "long QT syndrome 12" EXACT [MONDO:Lexical, OMIM:612955] synonym: "long QT syndrome caused by mutation in SNTA1" EXACT [MONDO:design_pattern] synonym: "long QT syndrome type 12" EXACT [DOID:0110653, MONDORULE:2, OMIM:612955] synonym: "LQT12" EXACT ABBREVIATION [DOID:0110653, MONDO:Lexical, OMIM:612955] synonym: "SNTA1 long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110653 {source="MONDO:equivalentTo"} xref: MESH:C567842 {source="MONDO:equivalentTo"} xref: OMIM:612955 {source="MONDO:equivalentTo", source="DOID:0110653"} xref: Orphanet:101016 {source="OMIM:612955", source="MONDO:directSiblingOf"} xref: UMLS:C2751830 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612955"} is_a: MONDO:0019171 {source="OMIM:612955", source="Orphanet:101016-prototype"} ! familial long QT syndrome property_value: exactMatch DOID:0110653 property_value: exactMatch http://identifiers.org/mesh/C567842 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751830 property_value: exactMatch https://omim.org/entry/612955 [Term] id: MONDO:0013069 name: autosomal recessive optic atrophy, OPA7 type subset: ordo_clinical_subtype {source="Orphanet:227976"} synonym: "OPA7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612989] synonym: "optic atrophy 7" EXACT [OMIM:612989, OMIM:genemap2] synonym: "optic atrophy 7 with or without auditory neuropathy" RELATED [MONDO:Lexical, OMIM:612989] xref: DOID:0111437 {source="MONDO:equivalentTo"} xref: MESH:C567833 {source="MONDO:equivalentTo"} xref: OMIM:612989 {source="Orphanet:227976", source="MONDO:equivalentTo", source="Orphanet:227976/e"} xref: Orphanet:227976 {source="MONDO:equivalentTo", source="OMIM:612989"} xref: UMLS:C2751812 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612989"} is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0043878 {source="DC-OMIM:612989", source="MESH:C567833/inferred", source="OMIM:612989"} ! hereditary optic atrophy property_value: exactMatch DOID:0111437 property_value: exactMatch http://identifiers.org/mesh/C567833 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751812 property_value: exactMatch https://omim.org/entry/612989 property_value: exactMatch Orphanet:227976 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013074 name: encephalocraniocutaneous lipomatosis def: "A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations." [NCIT:P378] subset: gard_rare {source="GARD:0002108"} subset: ordo_disease {source="Orphanet:2396"} synonym: "ECCL" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C4701, OMIM:613001] synonym: "encephalocraniocutaneous lipomatosis" EXACT [MONDO:Lexical, NCIT:C4701, OMIM:613001] synonym: "encephalocraniocutaneous lipomatosis, somatic mosaic" EXACT [OMIM:613001, OMIM:genemap2] synonym: "Fishman syndrome" EXACT [GARD:0002108, NCIT:C4701] synonym: "Haberland syndrome" EXACT [Orphanet:2396] xref: ICD9:757.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535736 {source="Orphanet:2396", source="MONDO:equivalentTo", source="Orphanet:2396/e"} xref: NCIT:C4701 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: OMIM:613001 {source="Orphanet:2396", source="MONDO:equivalentTo", source="Orphanet:2396/e"} xref: Orphanet:2396 {source="OMIM:613001", source="MONDO:equivalentTo"} xref: SCTID:238905009 {source="MONDO:equivalentTo"} xref: UMLS:C0406612 {source="OMIM:613001", source="Orphanet:2396", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2396/e", source="NCIT:C4701"} is_a: EFO:1000728 {source="MESH:C535736", source="NCIT:C4701"} ! lipomatosis is_a: MONDO:0015950 {source="MONDO:Redundant", source="Orphanet:2396"} ! inherited skin tumor is_a: MONDO:0017127 ! inherited soft tissue tumor is_a: MONDO:0019296 {source="Orphanet:2396"} ! subcutaneous tissue disorder is_a: MONDO:0021440 ! benign neoplasm of skin is_a: MONDO:0023603 ! hereditary disorder of connective tissue property_value: exactMatch http://identifiers.org/mesh/C535736 property_value: exactMatch http://identifiers.org/snomedct/238905009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406612 property_value: exactMatch https://omim.org/entry/613001 property_value: exactMatch NCIT:C4701 property_value: exactMatch Orphanet:2396 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2108/encephalocraniocutaneous-lipomatosis xsd:anyURI {source="GARD:0002108"} [Term] id: MONDO:0013081 name: lymphoproliferative syndrome 1 def: "A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia.." [NCIT:C126344] subset: ordo_disease synonym: "ITK deficiency" EXACT [NCIT:C126344] synonym: "ITK lymphoproliferative syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "LPFS1" EXACT ABBREVIATION [DOID:0060707, MONDO:Lexical, OMIM:613011] synonym: "lymphoproliferative syndrome 1" EXACT [MONDO:Lexical, OMIM:613011] synonym: "lymphoproliferative syndrome caused by mutation in ITK" EXACT [MONDO:design_pattern] synonym: "lymphoproliferative syndrome type 1" EXACT [DOID:0060707, MONDORULE:1, OMIM:613011] xref: DOID:0060707 {source="MONDO:equivalentTo"} xref: MESH:C567815 {source="MONDO:equivalentTo"} xref: NCIT:C126344 {source="MONDO:equivalentTo"} xref: OMIM:613011 {source="MONDO:equivalentTo", source="DOID:0060707", source="Orphanet:538963"} xref: Orphanet:538963 {source="MONDO:equivalentTo"} xref: UMLS:C3552634 {source="MONDO:equivalentTo", source="OMIM:613011"} is_a: MONDO:0016537 {source="DOID:0060707", source="MESH:C567815", source="MONDO:Redundant", source="OMIM:613011", source="Orphanet:538963"} ! lymphoproliferative syndrome is_a: MONDO:0021094 {source="NCIT:C126344"} ! immunodeficiency disease property_value: exactMatch DOID:0060707 property_value: exactMatch http://identifiers.org/mesh/C567815 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3552634 property_value: exactMatch https://omim.org/entry/613011 property_value: exactMatch NCIT:C126344 property_value: exactMatch Orphanet:538963 property_value: excluded_subClassOf MONDO:0000001 {source="Orphanet:538963"} property_value: excluded_subClassOf MONDO:0016536 {source="Orphanet:238505/btnt"} property_value: excluded_subClassOf MONDO:0018814 {source="Orphanet:538963"} [Term] id: MONDO:0013082 name: Hirschsprung disease-ganglioneuroblastoma syndrome def: "A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated." [Orphanet:2151] subset: ordo_malformation_syndrome {source="Orphanet:2151"} subset: predisposition synonym: "Hirschsprung disease ganglioneuroblastoma" RELATED [GARD:0002695] synonym: "neuroblastoma with Hirschsprung disease" RELATED [OMIM:613013] xref: MESH:C538119 {source="Orphanet:2151/e", source="MONDO:equivalentTo", source="Orphanet:2151"} xref: Orphanet:2151 {source="MONDO:equivalentTo"} xref: Orphanet:635 {source="OMIM:613013", source="MONDO:relatedTo"} xref: UMLS:C2751683 {source="OMIM:613013", source="Orphanet:2151/e", source="MONDO:equivalentTo", source="Orphanet:2151"} is_a: MONDO:0015246 {source="Orphanet:2151"} ! syndromic anorectal malformation is_a: MONDO:0021189 {source="Orphanet:2151"} ! intestinal motility disease property_value: exactMatch http://identifiers.org/mesh/C538119 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751683 property_value: exactMatch Orphanet:2151 [Term] id: MONDO:0013083 name: neuroblastoma, susceptibility to, 3 def: "Any neuroblastoma in which the cause of the disease is a mutation in the ALK gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition synonym: "ALK neuroblastoma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "NBLST3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613014] synonym: "neuroblastoma caused by mutation in ALK" EXACT [MONDO:design_pattern] synonym: "neuroblastoma, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:613014] synonym: "neuroblastoma, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:613014] synonym: "susceptibility to neuroblastoma 3" RELATED [OMIM:613014] xref: OMIM:613014 {source="MONDO:equivalentTo"} xref: Orphanet:635 {source="MONDO:relatedTo", source="OMIM:613014"} is_a: MONDO:0020573 {source="OMIM:613014"} ! inherited disease susceptibility relationship: predisposes_towards EFO:0000621 {source="OMIM:613014"} ! neuroblastoma property_value: exactMatch https://omim.org/entry/613014 property_value: excluded_subClassOf MONDO:0005072 {source="DC-OMIM:613014", source="MONDO:Redundant"} [Term] id: MONDO:0013090 name: chromosome 19q13.11 deletion syndrome def: "The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails." [Orphanet:217346] subset: gard_rare {source="GARD:0010592"} subset: ordo_malformation_syndrome {source="Orphanet:217346"} synonym: "19q13.11 microdeletion syndrome" EXACT [DOID:0060408] synonym: "chromosome 19Q13.11 deletion syndrome, distal" RELATED [OMIM:613026] synonym: "chromosome 19q13.11 deletion syndrome, distal" RELATED [OMIM:613026] synonym: "Del(19)(q13.11)" EXACT [Orphanet:217346] synonym: "monosomy 19q13.11" EXACT [DOID:0060408, Orphanet:217346] xref: DOID:0060408 {source="MONDO:equivalentTo"} xref: MESH:C567810 {source="MONDO:equivalentTo", source="DOID:0060408"} xref: Orphanet:217346 {source="OMIM:613026", source="MONDO:equivalentTo", source="DOID:0060408"} xref: SCTID:719599008 {source="MONDO:equivalentTo"} xref: UMLS:C2751651 {source="OMIM:613026", source="Orphanet:217346/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:0060408", source="Orphanet:217346"} xref: UMLS:C4304577 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:217346"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0016917 {source="Orphanet:217346"} ! partial deletion of the long arm of chromosome 19 property_value: exactMatch DOID:0060408 property_value: exactMatch http://identifiers.org/mesh/C567810 property_value: exactMatch http://identifiers.org/snomedct/719599008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751651 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304577 property_value: exactMatch Orphanet:217346 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:217346"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10592/chromosome-19q1311-deletion-syndrome xsd:anyURI {source="GARD:0010592"} [Term] id: MONDO:0013092 name: glioma susceptibility 2 def: "Any malignant glioma in which the cause of the disease is a mutation in the PTEN gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition synonym: "glioma susceptibility 2" EXACT [MONDO:Lexical, OMIM:613028] synonym: "glioma susceptibility type 2" EXACT [MONDORULE:1, OMIM:613028] synonym: "GLM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613028] synonym: "malignant glioma caused by mutation in PTEN" EXACT [MONDO:design_pattern] synonym: "PTEN malignant glioma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: OMIM:613028 {source="MONDO:equivalentTo"} is_a: MONDO:0100242 {source="OMIM:613028"} ! glioma susceptibility property_value: exactMatch https://omim.org/entry/613028 [Term] id: MONDO:0013093 name: glioma susceptibility 3 def: "Any malignant glioma in which the cause of the disease is a mutation in the BRCA2 gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition synonym: "BRCA2 malignant glioma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "glioblastoma 3" EXACT [OMIM:613029, OMIM:genemap2] synonym: "glioma susceptibility 3" EXACT [MONDO:Lexical, OMIM:613029] synonym: "glioma susceptibility type 3" EXACT [MONDORULE:1, OMIM:613029] synonym: "GLM3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613029] synonym: "malignant glioma caused by mutation in BRCA2" EXACT [MONDO:design_pattern] xref: OMIM:613029 {source="MONDO:equivalentTo"} xref: Orphanet:360 {source="MONDO:relatedTo", source="OMIM:613029"} is_a: MONDO:0100242 ! glioma susceptibility property_value: exactMatch https://omim.org/entry/613029 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013099 name: combined pituitary hormone deficiencies, genetic form def: "Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy." [Orphanet:95494] subset: gard_rare subset: ordo_disease {source="Orphanet:95494"} synonym: "combined pituitary hormone deficiencies, genetic forms" RELATED [Orphanet:95494] synonym: "familial congenital hypopituitarism" EXACT [Orphanet:95494] synonym: "familial hypopituitarism" RELATED [GARD:0002252] synonym: "genetic hypopituitarism" EXACT [MONDO:patterns/genetic] synonym: "multiple pituitary hormone deficiencies, genetic forms" EXACT [Orphanet:95494] synonym: "pituitary hormone deficiency, combined" EXACT [OMIMPS:613038] xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="Orphanet:95494/attributed", source="Orphanet:95494/ntbt", source="Orphanet:95494"} xref: OMIMPS:613038 {source="MONDO:equivalentTo"} xref: Orphanet:95494 {source="OMIM:613038", source="MONDO:equivalentTo"} xref: SCTID:718182008 {source="MONDO:equivalentTo"} is_a: EFO:0001380 ! hypopituitarism is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015770 {source="MONDO:0015891-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! congenital hypogonadotropic hypogonadism intersection_of: EFO:0001380 ! hypopituitarism intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/snomedct/718182008 property_value: exactMatch https://omim.org/phenotypicSeries/PS613038 property_value: exactMatch Orphanet:95494 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2252/familial-hypopituitarism xsd:anyURI {source="GARD:0002252"} [Term] id: MONDO:0013110 name: neurodegenerative syndrome due to cerebral folate transport deficiency subset: ordo_disease {source="Orphanet:217382"} synonym: "cerebral folate deficiency syndrome" RELATED [GARD:0010594] synonym: "cerebral folate receptor alpha deficiency" EXACT [] synonym: "cerebral folate transport deficiency" RELATED [GARD:0010594] synonym: "neurodegeneration due to cerebral folate TRANSPORT deficiency" RELATED [OMIM:613068] synonym: "neurodegenerative syndrome due to cerebral folate transport deficiency" EXACT [] xref: DOID:0050719 {source="MONDO:equivalentTo"} xref: ICD9:266.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C567791 {source="MONDO:equivalentTo"} xref: OMIM:613068 {source="MONDO:equivalentTo", source="Orphanet:217382", source="Orphanet:217382/e"} xref: Orphanet:217382 {source="OMIM:613068", source="MONDO:equivalentTo"} xref: SCTID:711403001 {source="MONDO:equivalentTo"} is_a: EFO:0005596 {source="DOID:0050719"} ! vitamin metabolic disorder is_a: MONDO:0017313 {source="Orphanet:217382"} ! disorder of folate metabolism and transport is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:217382"} ! inherited neurodegenerative disorder property_value: exactMatch DOID:0050719 property_value: exactMatch http://identifiers.org/mesh/C567791 property_value: exactMatch http://identifiers.org/snomedct/711403001 property_value: exactMatch https://omim.org/entry/613068 property_value: exactMatch Orphanet:217382 [Term] id: MONDO:0013111 name: acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins def: "Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia." [Orphanet:217371] comment: Editor note: add transient course subset: ordo_disease {source="Orphanet:217371"} synonym: "acute infantile liver failure" BROAD [GARD:0010593] synonym: "acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins" EXACT [Orphanet:217371] synonym: "acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins" EXACT [] synonym: "infantile liver failure caused by mutation in TRMU" EXACT [MONDO:design_pattern] synonym: "LFIT" EXACT ABBREVIATION [OMIM:613070] synonym: "liver failure, infantile, transient" EXACT [MONDO:Lexical, OMIM:613070] synonym: "liver failure, transient infantile" EXACT [OMIM:613070, OMIM:genemap2] synonym: "transient infantile liver failure" EXACT [GARD:0010593] synonym: "TRMU infantile liver failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080778 {source="MONDO:equivalentTo"} xref: OMIM:613070 {source="MONDO:equivalentTo", source="Orphanet:217371", source="Orphanet:217371/e"} xref: Orphanet:217371 {source="MONDO:equivalentTo", source="OMIM:613070"} xref: UMLS:C3278664 {source="MONDO:equivalentTo", source="OMIM:613070"} is_a: MONDO:0000023 {source="DC-OMIM:613070", source="MONDO:Redundant"} ! infantile liver failure is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0020683 ! acute disease property_value: exactMatch DOID:0080778 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3278664 property_value: exactMatch https://omim.org/entry/613070 property_value: exactMatch Orphanet:217371 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013115 name: RIN2 syndrome def: "RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported." [Orphanet:217335] subset: ordo_malformation_syndrome {source="Orphanet:217335"} synonym: "macrocephaly, alopecia, cutis laxa, and scoliosis" RELATED [OMIM:613075] synonym: "macrocephaly-alopecia-cutis laxa-scoliosis syndrome" EXACT [Orphanet:217335] synonym: "MACS syndrome" EXACT [OMIM:613075, Orphanet:217335] synonym: "RIN2 deficiency" EXACT [Orphanet:217335] synonym: "RIN2 syndrome" EXACT [] synonym: "tall forehead, sparse hair, skin hyperextensibility, and scoliosis" RELATED [OMIM:613075] synonym: "tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome" EXACT [Orphanet:217335] xref: MESH:C567770 {source="MONDO:equivalentTo"} xref: OMIM:613075 {source="Orphanet:217335/e", source="MONDO:equivalentTo", source="Orphanet:217335"} xref: Orphanet:217335 {source="MONDO:equivalentTo", source="OMIM:613075"} xref: SCTID:723367005 {source="MONDO:equivalentTo"} xref: UMLS:C2751321 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613075", source="Orphanet:217335"} is_a: MONDO:0100237 {source="MESH:C567770", source="Orphanet:217335"} ! inherited cutis laxa property_value: exactMatch http://identifiers.org/mesh/C567770 property_value: exactMatch http://identifiers.org/snomedct/723367005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751321 property_value: exactMatch https://omim.org/entry/613075 property_value: exactMatch Orphanet:217335 [Term] id: MONDO:0013116 name: congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome subset: ordo_disease {source="Orphanet:330054"} synonym: "congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome" EXACT [Orphanet:330054] synonym: "congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome" EXACT [] synonym: "mitochondrial Complex deficiency, combined" RELATED [OMIM:613076] synonym: "myopathy with cataract and combined respiratory chain deficiency" RELATED [OMIM:613076] synonym: "myopathy with cataract and combined respiratory-chain deficiency" RELATED [GARD:0010522] synonym: "myopathy, mitochondrial progressive, with congenital cataract and developmental delay" EXACT [OMIM:613076, OMIM:genemap2] synonym: "myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay" RELATED [OMIM:613076] xref: MESH:C567769 {source="MONDO:equivalentTo"} xref: OMIM:613076 {source="Orphanet:330054", source="MONDO:equivalentTo", source="Orphanet:330054/e"} xref: Orphanet:330054 {source="MONDO:equivalentTo", source="OMIM:613076"} xref: UMLS:C2751320 {source="Orphanet:330054", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613076"} is_a: MONDO:0009637 {source="MESH:C567769", source="Orphanet:330054"} ! inborn mitochondrial myopathy is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder property_value: exactMatch http://identifiers.org/mesh/C567769 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751320 property_value: exactMatch https://omim.org/entry/613076 property_value: exactMatch Orphanet:330054 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013117 name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 def: "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RRM2B gene." [MONDO:patterns/disease_series_by_gene] synonym: "PEOA5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613077] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RRM2B" EXACT [MONDO:design_pattern] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5" EXACT [MONDO:Lexical, OMIM:613077] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 5" EXACT [MONDORULE:1, OMIM:613077] synonym: "progressive external ophthalmoplegia, autosomal dominant 5" RELATED [OMIM:613077] synonym: "RRM2B progressive external ophthalmoplegia with mitochondrial DNA deletions" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111518 {source="MONDO:equivalentTo"} xref: MESH:C567768 {source="MONDO:equivalentTo"} xref: OMIM:613077 {source="MONDO:equivalentTo"} xref: UMLS:C2751319 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613077"} is_a: MONDO:0008003 {source="Orphanet:254892/btnt"} ! autosomal dominant progressive external ophthalmoplegia property_value: exactMatch DOID:0111518 property_value: exactMatch http://identifiers.org/mesh/C567768 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751319 property_value: exactMatch https://omim.org/entry/613077 [Term] id: MONDO:0013118 name: Nijmegen breakage syndrome-like disorder def: "Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly." [Orphanet:240760] subset: ordo_malformation_syndrome {source="Orphanet:240760"} synonym: "microcephaly and chromosomal instability without immunodeficiency" EXACT [Orphanet:240760] synonym: "microcephaly and spontaneous chromosome instability without immunodeficiency" RELATED [OMIM:613078] synonym: "NBs-like disorder" EXACT [OMIM:613078, Orphanet:240760] synonym: "NBSLD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613078, Orphanet:240760] synonym: "Nijmegen breakage syndrome-like disorder" EXACT [MONDO:Lexical, OMIM:613078] synonym: "RAD50 deficiency" EXACT [Orphanet:240760] synonym: "Rad50 deficiency" RELATED [OMIM:613078] xref: MESH:C567767 {source="MONDO:equivalentTo"} xref: NCIT:C153178 {source="MONDO:equivalentTo"} xref: OMIM:613078 {source="Orphanet:240760", source="MONDO:equivalentTo", source="Orphanet:240760/e"} xref: Orphanet:240760 {source="OMIM:613078", source="MONDO:equivalentTo"} xref: SCTID:766753005 {source="MONDO:equivalentTo"} xref: UMLS:C2751318 {source="OMIM:613078", source="Orphanet:240760", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0008499 {source="PMID:19409520", source="PMID:23684796"} ! DNA repair deficiency is_a: MONDO:0015161 {source="Orphanet:240760"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015327 ! developmental anomaly of metabolic origin relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C567767 property_value: exactMatch http://identifiers.org/snomedct/766753005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751318 property_value: exactMatch https://omim.org/entry/613078 property_value: exactMatch NCIT:C153178 property_value: exactMatch Orphanet:240760 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5347 xsd:anyURI [Term] id: MONDO:0013125 name: CLAPO syndrome def: "CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O)." [Orphanet:168984] subset: ordo_malformation_syndrome {source="Orphanet:168984"} synonym: "capillary malformation of the LOWER LIP, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth" RELATED [OMIM:613089] synonym: "Clapo" RELATED [OMIM:613089] synonym: "CLAPO syndrome, somatic" EXACT [OMIM:613089, OMIM:genemap2] synonym: "Lopez-Gutierrez syndrome" RELATED [OMIM:613089] xref: MESH:C567763 {source="MONDO:equivalentTo"} xref: OMIM:613089 {source="Orphanet:168984", source="MONDO:equivalentTo", source="Orphanet:168984/e"} xref: Orphanet:168984 {source="OMIM:613089", source="MONDO:equivalentTo"} xref: SCTID:717765001 {source="MONDO:equivalentTo"} xref: UMLS:C2751313 {source="OMIM:613089", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019716 {source="Orphanet:168984"} ! overgrowth syndrome property_value: exactMatch http://identifiers.org/mesh/C567763 property_value: exactMatch http://identifiers.org/snomedct/717765001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751313 property_value: exactMatch https://omim.org/entry/613089 property_value: exactMatch Orphanet:168984 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013127 name: asphyxiating thoracic dystrophy 3 def: "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22." [DOID:0110087, PMID:19442771] subset: ordo_malformation_syndrome {source="Orphanet:93270", source="Orphanet:93271"} synonym: "asphyxiating thoracic dystrophy 3" EXACT [OMIM:613091] synonym: "asphyxiating thoracic dystrophy type 3" EXACT [DOID:0110087, MONDORULE:1] synonym: "ATD3" EXACT ABBREVIATION [DOID:0110087] synonym: "polydactyly with neonatal chondrodystrophy type 1" EXACT [GARD:0004834, OMIM:613091] synonym: "polydactyly with neonatal chondrodystrophy type III" EXACT [DOID:0110087, GARD:0004835] synonym: "polydactyly with neonatal chondrodystrophy, type 3" EXACT [OMIM:613091] synonym: "polydactyly with neonatal chondrodystrophy, type I" EXACT [DOID:0110087] synonym: "Saldino-Noonan syndrome" EXACT [DOID:0110087, OMIM:613091] synonym: "short rib polydactyly syndrome Verma Naumoff type" EXACT [GARD:0004835, MONDO:0019664] synonym: "short rib-polydactyly syndrome Saldino-Noonan type" EXACT [GARD:0004834, MONDO:0019663] synonym: "short rib-polydactyly syndrome type 1" EXACT [DOID:0110087, OMIM:613091, Orphanet:93270] synonym: "short rib-polydactyly syndrome type 3" EXACT [GARD:0004835, OMIM:613091, Orphanet:93271] synonym: "short rib-polydactyly syndrome type III" EXACT [GARD:0004835] synonym: "short rib-polydactyly syndrome, type 2B" EXACT [OMIM:613091] synonym: "short rib-polydactyly syndrome, type IIB" EXACT [DOID:0110087] synonym: "short-rib thoracic dysplasia 3 with or without polydactyly" EXACT [DOID:0110087, MONDO:Lexical, OMIM:613091] synonym: "SRPS type 1" EXACT [GARD:0004834] synonym: "SRPS type 3" EXACT [GARD:0004835] synonym: "SRPS1" EXACT ABBREVIATION [DOID:0110087] synonym: "SRPS2B" EXACT ABBREVIATION [DOID:0110087] synonym: "SRPS3" EXACT ABBREVIATION [DOID:0110087] synonym: "SRTD3" EXACT ABBREVIATION [DOID:0110087, MONDO:Lexical, OMIM:613091] synonym: "type I short rib polydactyly syndrome" EXACT [DOID:0050549] synonym: "Verma-Naumoff syndrome" EXACT [DOID:0110087, GARD:0004835, OMIM:613091] xref: DOID:0050549 {source="MONDO:equivalentTo"} xref: DOID:0110087 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537602 {source="Orphanet:93271/e", source="MONDO:equivalentTo", source="Orphanet:93271"} xref: NCIT:C163755 {source="MONDO:equivalentTo"} xref: OMIM:613091 {source="MONDO:equivalentTo", source="Orphanet:93271/btnt", source="Orphanet:93270/ntbt", source="DOID:0110087", source="Orphanet:93270", source="Orphanet:93271"} xref: Orphanet:93270 {source="MONDO:equivalentTo", source="OMIM:613091"} xref: Orphanet:93271 {source="MONDO:equivalentTo"} xref: SCTID:254051008 {source="MONDO:equivalentTo"} xref: SCTID:27330009 {source="MONDO:equivalentObsolete"} xref: UMLS:C0432197 {source="Orphanet:93271/e", source="MONDO:equivalentTo", source="Orphanet:93271"} is_a: MONDO:0015246 {source="Orphanet:93271"} ! syndromic anorectal malformation is_a: MONDO:0018770 {source="DOID:0110087", source="OMIM:613091"} ! Jeune syndrome property_value: exactMatch DOID:0050549 property_value: exactMatch DOID:0110087 property_value: exactMatch http://identifiers.org/mesh/C537602 property_value: exactMatch http://identifiers.org/snomedct/254051008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432197 property_value: exactMatch https://omim.org/entry/613091 property_value: exactMatch NCIT:C163755 property_value: exactMatch Orphanet:93270 property_value: exactMatch Orphanet:93271 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4148 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0013128 name: familial juvenile hyperuricemic nephropathy type 2 def: "Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS)." [Orphanet:217330] subset: ordo_disease {source="Orphanet:217330"} synonym: "ADTKD-REN" EXACT [Orphanet:217330] synonym: "autosomal dominant tubulointerstitial kidney disease due to mutations in REN" EXACT [PMID:25738250] synonym: "early-onset hyperuricemia, Anemia, and progressive kidney failure" RELATED [OMIM:613092] synonym: "familial juvenile hyperuricemic nephropathy caused by mutation in REN" EXACT [MONDO:design_pattern] synonym: "familial juvenile hyperuricemic nephropathy type 2" EXACT [Orphanet:217330] synonym: "FJHN type 2" EXACT [Orphanet:217330] synonym: "HNFJ2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613092] synonym: "hyperuricemic nephropathy, familial juvenile, 2" RELATED [MONDO:Lexical, OMIM:613092] synonym: "hyperuricemic nephropathy, familial juvenile, type 2" EXACT [MONDORULE:1, OMIM:613092] synonym: "REN familial juvenile hyperuricemic nephropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "REN-associated familial juvenile hyperuricemic nephropathy" EXACT [Orphanet:217330] synonym: "REN-associated FJHN" EXACT [Orphanet:217330] synonym: "REN-associated kidney disease" EXACT [Orphanet:217330] synonym: "REN-related autosomal dominant tubulointerstitial kidney disease" RELATED [Orphanet:217330] synonym: "tubulointerstitial kidney disease, autosomal dominant, 4" EXACT [OMIM:613092, OMIM:genemap2] xref: MESH:C567760 {source="MONDO:equivalentTo"} xref: OMIM:613092 {source="Orphanet:217330/e", source="MONDO:equivalentTo", source="Orphanet:217330"} xref: Orphanet:217330 {source="MONDO:equivalentTo", source="OMIM:613092"} xref: SCTID:721840000 {source="MONDO:equivalentTo"} is_a: MONDO:0000608 {source="DC-OMIM:613092", source="MONDO:Redundant", source="OMIM:613092"} ! familial juvenile hyperuricemic nephropathy is_a: MONDO:0015962 {source="Orphanet:217330", source="Orphanet:217330/inferred"} ! inherited renal tubular disease property_value: exactMatch http://identifiers.org/mesh/C567760 property_value: exactMatch http://identifiers.org/snomedct/721840000 property_value: exactMatch https://omim.org/entry/613092 property_value: exactMatch Orphanet:217330 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013131 name: polycystic kidney disease 2 def: "Autosomal dominant polycystic kidney disease caused by a mutation in PKD2." [NCIT:C123166] synonym: "APKD2" EXACT ABBREVIATION [DOID:0110859] synonym: "autosomal dominant polycystic kidney disease caused by mutation in PKD2" EXACT [MONDO:design_pattern] synonym: "Autosomal dominant polycystic kidney disease type 2" EXACT [NCIT:C123166] synonym: "PKD2" EXACT ABBREVIATION [DOID:0110859, MONDO:Lexical, OMIM:613095] synonym: "PKD2 autosomal dominant polycystic kidney disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "polycystic kidney disease 2" EXACT [MONDO:Lexical, OMIM:613095] synonym: "polycystic kidney disease 2 with or without polycystic liver disease" RELATED [OMIM:613095] synonym: "polycystic kidney disease type 2" EXACT [DOID:0110859, MONDORULE:1, OMIM:613095] synonym: "polycystic kidney disease, adult, type 2" RELATED [OMIM:613095] synonym: "polycystic kidney disease, adult, type II" EXACT [DOID:0110859] xref: DOID:0110859 {source="MONDO:equivalentTo"} xref: NCIT:C123166 {source="MONDO:equivalentTo"} xref: OMIM:613095 {source="DOID:0110859", source="MONDO:equivalentTo"} xref: SCTID:253879006 {source="MONDO:equivalentTo"} xref: UMLS:C2751306 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613095"} is_a: EFO:1001496 {source="DC-OMIM:613095", source="DOID:0110859", source="MONDO:Redundant", source="NCIT:C123166", source="OMIM:613095"} ! Autosomal dominant polycystic kidney disease property_value: exactMatch DOID:0110859 property_value: exactMatch http://identifiers.org/snomedct/253879006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751306 property_value: exactMatch https://omim.org/entry/613095 property_value: exactMatch NCIT:C123166 [Term] id: MONDO:0013132 name: hereditary spastic paraplegia 36 def: "Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy." [Orphanet:320365] subset: ordo_disease {source="Orphanet:320365"} synonym: "autosomal dominant spastic paraplegia 36" EXACT [DOID:0110787] synonym: "autosomal dominant spastic paraplegia type 36" EXACT [DOID:0110787] synonym: "hereditary spastic paraplegia type 36" EXACT [DOID:0110787, MONDORULE:2] synonym: "spastic paraplegia 36, autosomal dominant" RELATED [MONDO:Lexical, OMIM:613096] synonym: "SPG36" EXACT ABBREVIATION [DOID:0110787, MONDO:Lexical, OMIM:613096, Orphanet:320365] xref: DOID:0110787 {source="MONDO:equivalentTo"} xref: MESH:C567930 {source="MONDO:equivalentTo"} xref: OMIM:613096 {source="DOID:0110787", source="Orphanet:320365", source="MONDO:equivalentTo", source="Orphanet:320365/e"} xref: Orphanet:320365 {source="DOID:0110787", source="MONDO:equivalentTo", source="OMIM:613096"} xref: SCTID:723819007 {source="MONDO:equivalentTo"} xref: UMLS:C2936879 {source="Orphanet:320365", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:320365/e", source="OMIM:613096"} xref: UMLS:C4510078 {source="MONDO:equivalentTo"} is_a: MONDO:0015087 {source="Orphanet:320365"} ! autosomal dominant complex spastic paraplegia property_value: exactMatch DOID:0110787 property_value: exactMatch http://identifiers.org/mesh/C567930 property_value: exactMatch http://identifiers.org/snomedct/723819007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2936879 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510078 property_value: exactMatch https://omim.org/entry/613096 property_value: exactMatch Orphanet:320365 [Term] id: MONDO:0013136 name: hereditary hypotrichosis with recurrent skin vesicles def: "Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid." [Orphanet:217407] subset: ordo_disease {source="Orphanet:217407"} synonym: "hereditary hypotrichosis with recurrent skin vesicles" EXACT [] synonym: "hypotrichosis and recurrent skin vesicles" RELATED [OMIM:613102] xref: MESH:C567751 {source="MONDO:equivalentTo"} xref: OMIM:613102 {source="Orphanet:217407", source="MONDO:equivalentTo", source="Orphanet:217407/e"} xref: Orphanet:217407 {source="OMIM:613102", source="MONDO:equivalentTo"} xref: SCTID:724350009 {source="MONDO:equivalentTo"} xref: UMLS:C2751292 {source="OMIM:613102", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0004907 {source="Orphanet:217407"} ! alopecia property_value: exactMatch http://identifiers.org/mesh/C567751 property_value: exactMatch http://identifiers.org/snomedct/724350009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751292 property_value: exactMatch https://omim.org/entry/613102 property_value: exactMatch Orphanet:217407 [Term] id: MONDO:0013139 name: neutropenia, severe congenital, 2, autosomal dominant def: "Any autosomal dominant severe congenital neutropenia in which the cause of the disease is a mutation in the GFI1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant severe congenital neutropenia caused by mutation in GFI1" EXACT [MONDO:design_pattern] synonym: "GFI1 autosomal dominant severe congenital neutropenia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "neutropenia, severe congenital 2, autosomal dominant" EXACT [OMIM:613107, OMIM:genemap2] synonym: "neutropenia, severe congenital, 2, autosomal dominant" EXACT [MONDO:Lexical, OMIM:613107] synonym: "SCN2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613107] xref: DOID:0112131 {source="MONDO:equivalentTo"} xref: MESH:C567748 {source="MONDO:equivalentTo"} xref: OMIM:613107 {source="MONDO:equivalentTo"} xref: UMLS:C2751288 {source="MONDO:equivalentTo", source="OMIM:613107", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0008742 {source="MONDO:Redundant", source="Orphanet:486/btnt"} ! autosomal dominant severe congenital neutropenia property_value: exactMatch DOID:0112131 property_value: exactMatch http://identifiers.org/mesh/C567748 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751288 property_value: exactMatch https://omim.org/entry/613107 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013143 name: hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency subset: ordo_disease {source="Orphanet:217467"} synonym: "hereditary thrombophilia due to congenital HRG deficiency" EXACT [Orphanet:217467] synonym: "THPH11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613116] synonym: "thrombophilia 11 due to HRG deficiency" EXACT [OMIM:613116, OMIM:genemap2] synonym: "thrombophilia due to elevated histidine-rich glycoprotein" RELATED [OMIM:613116] synonym: "thrombophilia due to histidine-rich glycoprotein deficiency" RELATED [MONDO:Lexical, OMIM:613116] xref: DOID:0111903 {source="MONDO:equivalentTo"} xref: MESH:C567737 {source="MONDO:equivalentTo"} xref: OMIM:613116 {source="Orphanet:217467/e", source="MONDO:equivalentTo", source="Orphanet:217467"} xref: Orphanet:217467 {source="OMIM:613116", source="MONDO:equivalentTo"} is_a: MONDO:0018374 {source="MONDO:0016320-obsoleted"} ! secondary avascular necrosis is_a: MONDO:0018384 {source="MONDO:0016320-obsoleted"} ! avascular necrosis of genetic origin is_a: MONDO:0100240 {source="DC-OMIM:613116", source="MESH:C567737", source="MONDO:0016320-obsoleted", source="OMIM:613116"} ! inherited thrombophilia property_value: exactMatch DOID:0111903 property_value: exactMatch http://identifiers.org/mesh/C567737 property_value: exactMatch https://omim.org/entry/613116 property_value: exactMatch Orphanet:217467 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013144 name: hereditary antithrombin deficiency def: "A rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins)." [Orphanet:82] subset: ordo_disease {source="Orphanet:82"} synonym: "antithrombin 3 deficiency" EXACT [OMIM:613118] synonym: "antithrombin III deficiency" EXACT [MONDO:Lexical, OMIM:613118] synonym: "AT III deficiency" EXACT [DOID:3755] synonym: "AT3D" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613118] synonym: "congenital antithrombin III deficiency" EXACT [GARD:0006148] synonym: "congenital AT-III deficiency" EXACT [GARD:0006148] synonym: "hereditary antithrombin deficiency" EXACT [GARD:0006148] synonym: "hereditary thrombophilia due to congenital antithrombin 3 deficiency" EXACT [Orphanet:82] synonym: "hereditary thrombophilia due to congenital antithrombin deficiency" EXACT [DOID:3755] synonym: "inherited antithrombin deficiency" EXACT [GARD:0006148] synonym: "thrombophilia 7 due to antithrombin III deficiency" EXACT [OMIM:613118, OMIM:genemap2] synonym: "thrombophilia due to antithrombin 3 deficiency" EXACT [OMIM:613118] synonym: "thrombophilia due to antithrombin III deficiency" EXACT [GARD:0006148] xref: DOID:3755 {source="MONDO:equivalentTo"} xref: ICD9:286.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D020152 {source="DOID:3755", source="MONDO:equivalentTo"} xref: OMIM:613118 {source="Orphanet:82/e", source="DOID:3755", source="MONDO:equivalentTo", source="Orphanet:82"} xref: Orphanet:82 {source="MONDO:equivalentTo", source="OMIM:613118"} xref: SCTID:36351005 {source="DOID:3755", source="MONDO:equivalentTo"} xref: UMLS:C0272375 {source="NCIT:C98815", source="DOID:3755", source="MONDO:equivalentTo", source="OMIM:613118", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018374 {source="MONDO:0016320-obsoleted"} ! secondary avascular necrosis is_a: MONDO:0018384 {source="MONDO:0016320-obsoleted"} ! avascular necrosis of genetic origin is_a: MONDO:0100240 {source="DC-OMIM:613118", source="MESH:D020152", source="MONDO:0016320-obsoleted", source="OMIM:613118"} ! inherited thrombophilia property_value: exactMatch DOID:3755 property_value: exactMatch http://identifiers.org/mesh/D020152 property_value: exactMatch http://identifiers.org/snomedct/36351005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272375 property_value: exactMatch https://omim.org/entry/613118 property_value: exactMatch Orphanet:82 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013150 name: parkinsonism-dystonia, infantile def: "Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal." [Orphanet:238455] subset: ordo_disease {source="Orphanet:238455"} synonym: "dopamine transporter deficiency syndrome" EXACT [OMIM:613135] synonym: "infantile Parkinsonism-dystonia" EXACT [OMIMPS:613135] synonym: "IPD" EXACT ABBREVIATION [Orphanet:238455] synonym: "Parkinsonism-dystonia infantile" EXACT [OMIMPS:613135] synonym: "PARKINSONISM-dystonia, infantile" EXACT [MONDO:Lexical, OMIMPS:613135] synonym: "parkinsonism-dystonia, infantile" EXACT [] synonym: "PKDYS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613135, Orphanet:238455] xref: MESH:C567730 {source="MONDO:equivalentTo"} xref: NCIT:C129866 {source="MONDO:mondoIsBroaderThanSource"} xref: OMIMPS:613135 {source="MONDO:equivalentTo"} xref: Orphanet:238455 {source="OMIM:613135", source="MONDO:equivalentTo"} xref: SCTID:722763000 {source="MONDO:mondoIsBroaderThanSource"} xref: UMLS:C2751067 {source="OMIM:613135", source="Orphanet:238455/e", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C129866", source="MONDO:mondoIsBroaderThanSource", source="Orphanet:238455"} is_a: MONDO:0002254 {source="NCIT:C129866"} ! syndromic disease is_a: MONDO:0018329 {source="Orphanet:238455"} ! persistent combined dystonia is_a: MONDO:0021095 {source="MONDO:0017661-obsoleted"} ! parkinsonian disorder property_value: exactMatch http://identifiers.org/mesh/C567730 property_value: exactMatch https://omim.org/phenotypicSeries/PS613135 property_value: exactMatch Orphanet:238455 [Term] id: MONDO:0013154 name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 def: "An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation." [NCIT:C126742] synonym: "MDDGA2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613150] synonym: "muscle-eye-brain-POMT2 related" EXACT [https://clinicalgenome.org/affiliation/50061/] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 2" EXACT [NCIT:C126742] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2" EXACT [MONDO:Lexical, OMIM:613150] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related" EXACT [OMIM:613150] xref: DOID:0111240 {source="MONDO:equivalentTo"} xref: NCIT:C126742 {source="MONDO:equivalentTo"} xref: OMIM:613150 {source="MONDO:equivalentTo"} xref: Orphanet:899 {source="MONDO:relatedTo", source="OMIM:613150"} xref: UMLS:C3150411 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C126742", source="OMIM:613150"} is_a: MONDO:0000171 {source="OMIM:613150", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A is_a: MONDO:0018939 {source="https://orcid.org/0000-0002-4142-7153"} ! muscle-eye-brain disease is_a: MONDO:0700071 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in POMT2 property_value: exactMatch DOID:0111240 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150411 property_value: exactMatch https://omim.org/entry/613150 property_value: exactMatch NCIT:C126742 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0013155 name: muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 synonym: "congenital muscular dystrophy-POMGNT1 related" EXACT [https://clinicalgenome.org/affiliation/50061/] synonym: "MDDGB3" RELATED DEPRECATED [MONDO:Lexical, OMIM:613151] synonym: "muscular dystrophy, congenital, POMGNT1-related" RELATED [OMIM:613151] synonym: "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 3" RELATED [MONDO:Lexical, OMIM:613151] synonym: "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3" RELATED DEPRECATED [MONDO:Lexical, OMIM:613151] xref: DOID:0112378 {source="MONDO:equivalentTo"} xref: OMIM:613151 {source="MONDO:equivalentTo"} xref: UMLS:C3150412 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613151"} is_a: MONDO:0000172 {source="OMIM:613151"} ! muscular dystrophy-dystroglycanopathy, type B is_a: MONDO:0018277 {source="Orphanet:370959/btnt"} ! congenital muscular dystrophy with cerebellar involvement is_a: MONDO:0700068 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in POMGNT1 property_value: exactMatch DOID:0112378 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150412 property_value: exactMatch https://omim.org/entry/613151 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0013156 name: muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 synonym: "congenital muscular dystrophy-FKTN related" EXACT [https://clinicalgenome.org/affiliation/50061/] synonym: "MDDGB4" RELATED DEPRECATED [MONDO:Lexical, OMIM:613152] synonym: "muscular dystrophy, congenital, Fktn-related" RELATED [OMIM:613152] synonym: "muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B, 4" RELATED [MONDO:Lexical, OMIM:613152] synonym: "muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4" RELATED DEPRECATED [MONDO:Lexical, OMIM:613152] xref: DOID:0112379 {source="MONDO:equivalentTo"} xref: OMIM:613152 {source="MONDO:equivalentTo"} xref: UMLS:C2751052 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613152"} is_a: MONDO:0000172 {source="OMIM:613152"} ! muscular dystrophy-dystroglycanopathy, type B is_a: MONDO:0018279 {source="Orphanet:370980/btnt"} ! congenital muscular dystrophy without intellectual disability is_a: MONDO:0700067 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in FKTN property_value: exactMatch DOID:0112379 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751052 property_value: exactMatch https://omim.org/entry/613152 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0013157 name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 synonym: "MDDGA5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613153] synonym: "muscle-eye-brain-FKRP related" EXACT [https://clinicalgenome.org/affiliation/50061/] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5" RELATED [MONDO:Lexical, OMIM:613153] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related" RELATED [OMIM:613153] xref: DOID:0111241 {source="MONDO:equivalentTo"} xref: OMIM:613153 {source="MONDO:equivalentTo"} xref: Orphanet:899 {source="MONDO:relatedTo", source="OMIM:613153"} xref: UMLS:C3150413 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613153"} is_a: MONDO:0000171 {source="OMIM:613153", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A is_a: MONDO:0018939 {source="https://orcid.org/0000-0002-4142-7153"} ! muscle-eye-brain disease property_value: exactMatch DOID:0111241 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150413 property_value: exactMatch https://omim.org/entry/613153 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0013158 name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 def: "An autosomal recessive muscular dystrophy caused by mutations in the LARGE gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life." [NCIT:C126743] synonym: "MDDGA6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613154] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6" EXACT [NCIT:C126743] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6" RELATED [MONDO:Lexical, OMIM:613154] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, large-related" RELATED [OMIM:613154] xref: DOID:0111242 {source="MONDO:equivalentTo"} xref: NCIT:C126743 {source="MONDO:equivalentTo"} xref: OMIM:613154 {source="MONDO:equivalentTo"} xref: Orphanet:899 {source="MONDO:relatedTo", source="OMIM:613154"} xref: UMLS:C3150414 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C126743", source="OMIM:613154"} is_a: MONDO:0000171 {source="OMIM:613154", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A is_a: MONDO:0018939 ! muscle-eye-brain disease property_value: exactMatch DOID:0111242 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150414 property_value: exactMatch https://omim.org/entry/613154 property_value: exactMatch NCIT:C126743 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0013159 name: muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 synonym: "congenital muscular dystrophy-POMT1 related" EXACT [https://clinicalgenome.org/affiliation/50061/] synonym: "MDDGB1" RELATED DEPRECATED [MONDO:Lexical, OMIM:613155] synonym: "muscular dystrophy, congenital, Pomt1-related" RELATED [OMIM:613155] synonym: "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1" RELATED [MONDO:Lexical, OMIM:613155] synonym: "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1" RELATED DEPRECATED [MONDO:Lexical, OMIM:613155] xref: DOID:0050588 {source="MONDO:equivalentTo"} xref: OMIM:613155 {source="MONDO:equivalentTo"} xref: Orphanet:370959 {source="OMIM:613155", source="MONDO:relatedTo"} xref: Orphanet:370968 {source="OMIM:613155", source="MONDO:relatedTo"} xref: UMLS:C3150415 {source="OMIM:613155", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000172 {source="DC-OMIM:613155", source="OMIM:613155"} ! muscular dystrophy-dystroglycanopathy, type B is_a: MONDO:0700070 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in POMT1 property_value: exactMatch DOID:0050588 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150415 property_value: exactMatch https://omim.org/entry/613155 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0013160 name: muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 def: "An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan." [NCIT:C126690] synonym: "congenital muscular dystrophy-dystroglycanopathy with intellectual disability type B2" EXACT [NCIT:C126690] synonym: "congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2" EXACT DEPRECATED [NCIT:C126690] synonym: "congenital muscular dystrophy-POMT2 related" EXACT [https://clinicalgenome.org/affiliation/50061/] synonym: "MDDGB2" RELATED DEPRECATED [MONDO:Lexical, OMIM:613156] synonym: "muscular dystrophy, congenital, Pomt2-related" RELATED [OMIM:613156] synonym: "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 2" RELATED [MONDO:Lexical, OMIM:613156] synonym: "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2" RELATED DEPRECATED [MONDO:Lexical, OMIM:613156] xref: DOID:0112380 {source="MONDO:equivalentTo"} xref: NCIT:C126690 {source="MONDO:equivalentTo"} xref: OMIM:613156 {source="MONDO:equivalentTo"} xref: Orphanet:370959 {source="OMIM:613156", source="MONDO:relatedTo"} xref: Orphanet:370968 {source="OMIM:613156", source="MONDO:relatedTo"} xref: UMLS:C3150416 {source="OMIM:613156", source="NCIT:C126690", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000172 {source="DC-OMIM:613156", source="OMIM:613156"} ! muscular dystrophy-dystroglycanopathy, type B is_a: MONDO:0700071 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in POMT2 property_value: exactMatch DOID:0112380 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150416 property_value: exactMatch https://omim.org/entry/613156 property_value: exactMatch NCIT:C126690 [Term] id: MONDO:0013161 name: autosomal recessive limb-girdle muscular dystrophy type 2O def: "Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia." [Orphanet:206564] subset: ordo_disease {source="Orphanet:206564"} synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1" EXACT [MONDO:design_pattern] synonym: "LGMD-POMGNT1 related" EXACT [https://clinicalgenome.org/affiliation/50061/] synonym: "LGMD2O" EXACT ABBREVIATION [DOID:0110292, Orphanet:206564] synonym: "limb-girdle muscular dystrophy type 2O" RELATED [GARD:0012540] synonym: "MDDGC3" EXACT ABBREVIATION [DOID:0110292, MONDO:Lexical, OMIM:613157] synonym: "muscular dystrophy, limb-girdle, type 2O" RELATED [OMIM:613157] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C3" EXACT [DOID:0110292] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3" RELATED [MONDO:Lexical, OMIM:613157] synonym: "muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related" EXACT [DOID:0110292] synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT1-related" RELATED [OMIM:613157] synonym: "POMGNT1 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110292 {source="MONDO:equivalentTo"} xref: OMIM:613157 {source="Orphanet:206564/e", source="MONDO:equivalentTo", source="DOID:0110292", source="Orphanet:206564"} xref: Orphanet:206564 {source="OMIM:613157", source="MONDO:equivalentTo", source="DOID:0110292"} xref: UMLS:C3150417 {source="OMIM:613157", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000173 {source="DC-OMIM:613157", source="OMIM:613157"} ! muscular dystrophy-dystroglycanopathy, type C is_a: MONDO:0015152 {source="DOID:0110292", source="MONDO:Redundant", source="OMIM:613157", source="Orphanet:206564"} ! autosomal recessive limb-girdle muscular dystrophy is_a: MONDO:0017745 {source="Orphanet:206564"} ! disorder of O-mannosylglycan synthesis is_a: MONDO:0700068 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in POMGNT1 property_value: exactMatch DOID:0110292 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150417 property_value: exactMatch https://omim.org/entry/613157 property_value: exactMatch Orphanet:206564 [Term] id: MONDO:0013162 name: autosomal recessive limb-girdle muscular dystrophy type 2N def: "Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability." [Orphanet:206559] subset: ordo_disease {source="Orphanet:206559"} synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT2" EXACT [MONDO:design_pattern] synonym: "LGMD-POMT2 related" EXACT [https://clinicalgenome.org/affiliation/50061/] synonym: "LGMD2N" EXACT ABBREVIATION [DOID:0110298, Orphanet:206559] synonym: "limb-girdle muscular dystrophy type 2N" RELATED [GARD:0012539] synonym: "MDDGC2" EXACT ABBREVIATION [DOID:0110298, MONDO:Lexical, OMIM:613158] synonym: "muscular dystrophy, limb-girdle, type 2N" RELATED [OMIM:613158] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2" EXACT [DOID:0110298] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2" RELATED [MONDO:Lexical, OMIM:613158] synonym: "muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related" EXACT [DOID:0110298] synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, Pomt2-related" RELATED [OMIM:613158] synonym: "POMT2 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110298 {source="MONDO:equivalentTo"} xref: OMIM:613158 {source="Orphanet:206559", source="MONDO:equivalentTo", source="Orphanet:206559/e", source="DOID:0110298"} xref: Orphanet:206559 {source="OMIM:613158", source="MONDO:equivalentTo", source="DOID:0110298"} xref: UMLS:C3150418 {source="OMIM:613158", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000173 {source="DC-OMIM:613158", source="OMIM:613158"} ! muscular dystrophy-dystroglycanopathy, type C is_a: MONDO:0015152 {source="DOID:0110298", source="MONDO:Redundant", source="OMIM:613158", source="Orphanet:206559"} ! autosomal recessive limb-girdle muscular dystrophy is_a: MONDO:0016185 {source="Orphanet:206559"} ! qualitative or quantitative defects of protein O-mannosyltransferase 2 is_a: MONDO:0017745 {source="Orphanet:206559"} ! disorder of O-mannosylglycan synthesis is_a: MONDO:0700071 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in POMT2 property_value: exactMatch DOID:0110298 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150418 property_value: exactMatch https://omim.org/entry/613158 property_value: exactMatch Orphanet:206559 [Term] id: MONDO:0013164 name: beta-ureidopropionase deficiency def: "Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal)." [Orphanet:65287] subset: ordo_disease {source="Orphanet:65287"} synonym: "Beta-alanine synthase deficiency" EXACT [Orphanet:65287] synonym: "BETA-ureidopropionase deficiency" RELATED [OMIM:613161] synonym: "beta-ureidopropionase deficiency" EXACT [OMIM:613161] synonym: "UPB1D" RELATED ABBREVIATION [OMIM:613161] xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563210 {source="MONDO:equivalentTo"} xref: OMIM:613161 {source="Orphanet:65287/e", source="MONDO:equivalentTo", source="Orphanet:65287"} xref: Orphanet:65287 {source="MONDO:equivalentTo", source="OMIM:613161"} xref: SCTID:124511000 {source="MONDO:equivalentTo"} xref: UMLS:C1291512 {source="Orphanet:65287/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613161", source="Orphanet:65287"} is_a: MONDO:0019238 {source="Orphanet:65287"} ! inborn disorder of pyrimidine metabolism property_value: exactMatch http://identifiers.org/mesh/C563210 property_value: exactMatch http://identifiers.org/snomedct/124511000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1291512 property_value: exactMatch https://omim.org/entry/613161 property_value: exactMatch Orphanet:65287 [Term] id: MONDO:0013165 name: hereditary spastic paraplegia 45 def: "Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported." [Orphanet:320396] subset: ordo_disease {source="Orphanet:320396"} synonym: "autosomal recessive complex spastic paraplegia caused by mutation in NT5C2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 45" EXACT [DOID:0110797] synonym: "autosomal recessive spastic paraplegia type 45" EXACT [DOID:0110797] synonym: "autosomal recessive spastic paraplegia type 65" EXACT [DOID:0110797, Orphanet:320396] synonym: "hereditary spastic paraplegia type 45" EXACT [DOID:0110797, MONDORULE:2] synonym: "NT5C2 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "spastic paraplegia 45, autosomal recessive" RELATED [MONDO:Lexical, OMIM:613162] synonym: "SPG45" EXACT ABBREVIATION [DOID:0110797, MONDO:Lexical, OMIM:613162, Orphanet:320396] synonym: "SPG65" EXACT ABBREVIATION [DOID:0110797, Orphanet:320396] xref: DOID:0110797 {source="MONDO:equivalentTo"} xref: OMIM:613162 {source="Orphanet:320396", source="DOID:0110797", source="MONDO:equivalentTo", source="Orphanet:320396/e"} xref: Orphanet:320396 {source="DOID:0110797", source="MONDO:equivalentTo", source="OMIM:613162"} xref: SCTID:765753004 {source="MONDO:equivalentTo"} xref: UMLS:CN203996 {source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="MONDO:Redundant", source="Orphanet:320396"} ! autosomal recessive complex spastic paraplegia property_value: exactMatch DOID:0110797 property_value: exactMatch http://identifiers.org/snomedct/765753004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203996 property_value: exactMatch https://omim.org/entry/613162 property_value: exactMatch Orphanet:320396 [Term] id: MONDO:0013166 name: GABA aminotransaminase deficiency def: "Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration." [Orphanet:2066] subset: gard_rare subset: ordo_disease {source="Orphanet:2066"} synonym: "4 alpha aminobutyrate transaminase deficiency" RELATED [GARD:0000194] synonym: "ABAT" RELATED ABBREVIATION [GARD:0000194] synonym: "GABA aminotransferase deficiency" EXACT [] synonym: "GABA transaminase deficiency" EXACT [GARD:0000194, Orphanet:2066] synonym: "GABA-transaminase deficiency" RELATED [OMIM:613163] synonym: "GABAT" RELATED ABBREVIATION [GARD:0000194] synonym: "gamma aminobutyrate transaminase deficiency" RELATED [GARD:0000194] synonym: "gamma aminobutyric acid transaminase deficiency" RELATED [GARD:0000194] synonym: "gamma-amino butyric acid transaminase deficiency" EXACT [DOID:0060174] synonym: "gamma-aminobutyric acid transaminase deficiency" EXACT [DOID:0060174] xref: DOID:0060174 {source="MONDO:equivalentTo"} xref: HGNC:23 {source="GARD:0000194"} xref: MESH:C535407 {source="Orphanet:2066", source="MONDO:equivalentTo", source="Orphanet:2066/e"} xref: OMIM:613163 {source="Orphanet:2066", source="MONDO:equivalentTo", source="Orphanet:2066/e", source="DOID:0060174"} xref: Orphanet:2066 {source="MONDO:equivalentTo", source="GARD:0000194", source="OMIM:613163"} xref: SCTID:237941007 {source="MONDO:equivalentTo"} xref: UMLS:C0342708 {source="Orphanet:2066", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2066/e", source="GARD:0000194", source="OMIM:613163"} is_a: MONDO:0000698 {source="DOID:0060174"} ! gamma-amino butyric acid metabolism disorder is_a: MONDO:0017684 {source="Orphanet:2066"} ! disorder of beta and omega amino acid metabolism property_value: exactMatch DOID:0060174 property_value: exactMatch http://identifiers.org/mesh/C535407 property_value: exactMatch http://identifiers.org/snomedct/237941007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342708 property_value: exactMatch https://omim.org/entry/613163 property_value: exactMatch Orphanet:2066 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5915 xsd:anyURI [Term] id: MONDO:0013169 name: chromosome 5p13 duplication syndrome def: "5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes)." [Orphanet:329802] subset: ordo_malformation_syndrome {source="Orphanet:329802"} synonym: "5p13 microduplication syndrome" EXACT [DOID:0060460] synonym: "chromosome 5p13 duplication syndrome" EXACT [OMIM:613174] synonym: "chromosome 5p13 duplication syndrome, isolated cases" EXACT [OMIM:613174, OMIM:genemap2] synonym: "dup(5)(p13)" EXACT [Orphanet:329802] synonym: "trisomy 5p13" EXACT [DOID:0060460, Orphanet:329802] xref: DOID:0060460 {source="MONDO:equivalentTo"} xref: MESH:C567717 {source="MONDO:equivalentTo"} xref: OMIM:613174 {source="Orphanet:329802", source="MONDO:equivalentTo", source="Orphanet:329802/e", source="DOID:0060460"} xref: Orphanet:329802 {source="MONDO:equivalentTo", source="OMIM:613174", source="DOID:0060460"} xref: UMLS:C2750805 {source="Orphanet:329802", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613174"} is_a: MONDO:0015159 {source="Orphanet:329802"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0016942 {source="Orphanet:329802"} ! partial trisomy/tetrasomy of the short arm of chromosome 5 property_value: exactMatch DOID:0060460 property_value: exactMatch http://identifiers.org/mesh/C567717 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750805 property_value: exactMatch https://omim.org/entry/613174 property_value: exactMatch Orphanet:329802 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:329802"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0013170 name: cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies def: "A autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13" [DOID:0070139] subset: ordo_malformation_syndrome {source="Orphanet:221145"} synonym: "ARCL1C" EXACT ABBREVIATION [DOID:0070139, MONDO:Lexical, OMIM:613177] synonym: "autosomal recessive cutis laxa type 1C" EXACT [DOID:0070139, Orphanet:221145] synonym: "autosomal recessive cutis laxa type IC" RELATED [DOID:0070139] synonym: "cutis laxa with Severe pulmonary, gastrointestinal, and urinary abnormalities" RELATED [OMIM:613177] synonym: "cutis laxa, autosomal recessive, type 1C" RELATED [OMIM:613177] synonym: "cutis laxa, autosomal recessive, type IC" RELATED [MONDO:Lexical, OMIM:613177] synonym: "Urban-Rifkin-Davis syndrome" EXACT [OMIM:613177, Orphanet:221145] xref: DOID:0070139 {source="MONDO:equivalentTo"} xref: MESH:C567716 {source="MONDO:equivalentTo"} xref: OMIM:613177 {source="Orphanet:221145", source="MONDO:equivalentTo", source="DOID:0070139", source="Orphanet:221145/e"} xref: Orphanet:221145 {source="OMIM:613177", source="MONDO:equivalentTo", source="DOID:0070139"} xref: PMID:19836010 {source="DOID:0070139"} xref: UMLS:C2750804 {source="OMIM:613177", source="Orphanet:221145", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:0070139"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0100237 {source="DC-OMIM:613177", source="DOID:0070139/inferred", source="MESH:C567716", source="MONDO:Redundant", source="OMIM:613177", source="Orphanet:221145"} ! inherited cutis laxa property_value: exactMatch DOID:0070139 property_value: exactMatch http://identifiers.org/mesh/C567716 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750804 property_value: exactMatch https://omim.org/entry/613177 property_value: exactMatch Orphanet:221145 [Term] id: MONDO:0013171 name: purine nucleoside phosphorylase deficiency def: "Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations." [Orphanet:760] subset: gard_rare {source="GARD:0004606"} subset: ordo_disease {source="Orphanet:760"} synonym: "deficiency of inosine phosphorylase" EXACT [DOID:5813] synonym: "immunodeficiency due to purine nucleoside phosphorylase deficiency" EXACT [OMIM:613179, OMIM:genemap2] synonym: "nucleoside phosphorylase deficiency" RELATED [OMIM:613179] synonym: "PNP deficiency" EXACT [DOID:5813, Orphanet:760] synonym: "PNPase deficiency" EXACT [Orphanet:760] synonym: "purine nucleoside phosphorylase deficiency" EXACT [DOID:5813, OMIM:613179] synonym: "purine-nucleoside phosphorylase deficiency" EXACT [DOID:5813, NCIT:C3963] xref: DOID:5813 {source="MONDO:equivalentTo"} xref: HGNC:7892 {source="GARD:0004606"} xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562587 {source="MONDO:equivalentTo", source="DOID:5813"} xref: NCIT:C176817 {source="MONDO:equivalentTo"} xref: NCIT:C3963 {source="MONDO:equivalentTo", source="DOID:5813"} xref: OMIM:613179 {source="Orphanet:760/e", source="MONDO:equivalentTo", source="DOID:5813", source="Orphanet:760"} xref: Orphanet:760 {source="OMIM:613179", source="MONDO:equivalentTo"} xref: SCTID:60743005 {source="MONDO:equivalentTo", source="DOID:5813"} xref: UMLS:C0268125 {source="Orphanet:760/e", source="OMIM:613179", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:5813", source="NCIT:C3963", source="Orphanet:760"} is_a: MONDO:0019236 {source="Orphanet:760"} ! inborn disorder of purine metabolism property_value: exactMatch DOID:5813 property_value: exactMatch http://identifiers.org/mesh/C562587 property_value: exactMatch http://identifiers.org/snomedct/60743005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268125 property_value: exactMatch https://omim.org/entry/613179 property_value: exactMatch NCIT:C176817 property_value: exactMatch NCIT:C3963 property_value: exactMatch Orphanet:760 property_value: excluded_subClassOf MONDO:0015974 {source="NCIT:C3963", source="https://github.com/monarch-initiative/mondo-build/issues/108"} property_value: excluded_subClassOf MONDO:0018814 {source="Orphanet:760"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4606/purine-nucleoside-phosphorylase-deficiency xsd:anyURI {source="GARD:0004606"} [Term] id: MONDO:0013172 name: polymicrogyria with optic nerve hypoplasia def: "A rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction." [Orphanet:250972] subset: ordo_malformation_syndrome {source="Orphanet:250972"} synonym: "CDCBM8" RELATED ABBREVIATION [OMIM:613180] synonym: "cortical dysplasia, Complex, with Other brain malformations 8" RELATED [OMIM:613180] synonym: "cortical dysplasia, complex, with other brain malformations 8" RELATED [OMIM:613180] synonym: "polymicrogyria with optic nerve hypoplasia" EXACT [OMIM:613180] xref: MESH:C567715 {source="MONDO:equivalentTo"} xref: OMIM:613180 {source="MONDO:equivalentObsolete", source="Orphanet:250972", source="Orphanet:250972/e"} xref: Orphanet:250972 {source="MONDO:equivalentTo", source="OMIM:613180"} xref: UMLS:C2750798 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:250972", source="OMIM:613180"} is_a: MONDO:0000904 {source="OMIM:613180"} ! complex cortical dysplasia with other brain malformations relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960", source="MONDO:0015983"} ! rare property_value: exactMatch http://identifiers.org/mesh/C567715 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750798 property_value: exactMatch Orphanet:250972 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:250972"} property_value: excluded_subClassOf MONDO:0015220 {source="MONDO:0017120-obsoleted"} property_value: excluded_subClassOf MONDO:0015310 {source="Orphanet:250972"} property_value: excluded_subClassOf MONDO:0015655 {source="Orphanet:250972"} [Term] id: MONDO:0013173 name: intellectual disability, autosomal recessive 13 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TRAPPC9 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in TRAPPC9" EXACT [MONDO:design_pattern] synonym: "intellectual disability, autosomal recessive 13" EXACT [MONDO:Lexical, OMIM:613192] synonym: "intellectual disability, autosomal recessive type 13" EXACT [MONDORULE:2, OMIM:613192] synonym: "mental retardation, autosomal recessive 13" RELATED DEPRECATED [MONDO:Lexical, OMIM:613192] synonym: "mental retardation, autosomal recessive type 13" EXACT DEPRECATED [MONDORULE:2, OMIM:613192] synonym: "MRT13" RELATED DEPRECATED [MONDO:Lexical, OMIM:613192] synonym: "TRAPPC9 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081098 {source="MONDO:equivalentTo"} xref: MESH:C567714 {source="MONDO:equivalentTo"} xref: OMIM:613192 {source="MONDO:equivalentTo"} xref: UMLS:C2750791 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613192"} is_a: MONDO:0019502 {source="DC-OMIM:613192", source="MONDO:Redundant", source="OMIM:613192"} ! autosomal recessive non-syndromic intellectual disability property_value: exactMatch DOID:0081098 property_value: exactMatch http://identifiers.org/mesh/C567714 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750791 property_value: exactMatch https://omim.org/entry/613192 [Term] id: MONDO:0013176 name: Weill-Marchesani 4 syndrome, recessive subset: ordo_disease {source="Orphanet:363992"} synonym: "15q26.3 microdeletion syndrome" EXACT [Orphanet:363992] synonym: "ichthyosis-short stature-brachydactyly-microspherophakia syndrome" EXACT [Orphanet:363992] synonym: "Weill-Marchesani syndrome 4" EXACT [OMIM:613195] synonym: "Weill-Marchesani-like syndrome" EXACT [OMIM:613195] synonym: "WMS4" EXACT ABBREVIATION [OMIM:613195] xref: MESH:C567710 {source="MONDO:equivalentTo"} xref: OMIM:613195 {source="Orphanet:363992", source="MONDO:equivalentTo", source="Orphanet:363992/e"} xref: Orphanet:363992 {source="MONDO:equivalentTo", source="OMIM:613195"} xref: UMLS:C2750787 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613195"} is_a: MONDO:0017270 ! autosomal ichthyosis syndrome is_a: MONDO:0018096 {source="DC-OMIM:613195", source="OMIM:613195"} ! Weill-Marchesani syndrome property_value: exactMatch http://identifiers.org/mesh/C567710 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750787 property_value: exactMatch https://omim.org/entry/613195 property_value: exactMatch Orphanet:363992 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0013177 name: congenital muscular dystrophy due to integrin alpha-7 deficiency def: "Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency." [Orphanet:34520] subset: ordo_disease {source="Orphanet:34520"} synonym: "congenital muscular dystrophy caused by mutation in ITGA7" EXACT [MONDO:design_pattern] synonym: "congenital muscular dystrophy with integrin alpha-7 deficiency" EXACT [DOID:0110639] synonym: "congenital muscular dystrophy with ITGA7 deficiency" EXACT [DOID:0110639, Orphanet:34520] synonym: "congenital myopathy due to integrin alpha-7 deficiency" EXACT [DOID:0110639] synonym: "ITGA7 congenital muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "muscular dystrophy, congenital, due to integrin ALPHA-7 deficiency" RELATED [OMIM:613204] synonym: "muscular dystrophy, congenital, due to ITGA7 deficiency" RELATED [GARD:0012587] synonym: "myopathy, congenital, due to integrin Alpha-7 deficiency" RELATED [OMIM:613204] xref: DOID:0110639 {source="MONDO:equivalentTo"} xref: MESH:C567709 {source="MONDO:equivalentTo"} xref: OMIM:613204 {source="Orphanet:34520/e", source="DOID:0110639", source="MONDO:equivalentTo", source="Orphanet:34520"} xref: Orphanet:34520 {source="OMIM:613204", source="DOID:0110639", source="MONDO:equivalentTo"} xref: UMLS:C2750786 {source="OMIM:613204", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:34520"} is_a: MONDO:0016150 {source="Orphanet:34520"} ! qualitative or quantitative defects of integrin alpha-7 is_a: MONDO:0019950 {source="DOID:0110639", source="MONDO:Redundant", source="Orphanet:34520"} ! congenital muscular dystrophy property_value: exactMatch DOID:0110639 property_value: exactMatch http://identifiers.org/mesh/C567709 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750786 property_value: exactMatch https://omim.org/entry/613204 property_value: exactMatch Orphanet:34520 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0013178 name: congenital muscular dystrophy due to LMNA mutation def: "Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported." [Orphanet:157973] subset: gard_rare {source="GARD:0012585"} subset: ordo_disease {source="Orphanet:157973"} synonym: "congenital muscular dystrophy caused by mutation in LMNA" EXACT [MONDO:design_pattern] synonym: "congenital muscular dystrophy LMNA-related" EXACT [DOID:0110640] synonym: "L-CMD" EXACT [DOID:0110640, Orphanet:157973] synonym: "LMNA congenital muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "LMNA-related congenital muscular dystrophy" EXACT [DOID:0110640, Orphanet:157973] synonym: "MDCL" RELATED ABBREVIATION [OMIM:613205] synonym: "muscular dystrophy Congenital, LMNA-related" EXACT [NCIT:C148369] synonym: "muscular dystrophy, congenital" EXACT [OMIM:613205, OMIM:genemap2] synonym: "muscular dystrophy, congenital, LMNA-related" RELATED [GARD:0012585, OMIM:613205] xref: DOID:0110640 {source="MONDO:equivalentTo"} xref: MESH:C567708 {source="MONDO:equivalentTo"} xref: NCIT:C148369 {source="MONDO:equivalentTo"} xref: OMIM:613205 {source="Orphanet:157973", source="MONDO:equivalentTo", source="Orphanet:157973/e", source="DOID:0110640"} xref: Orphanet:157973 {source="MONDO:equivalentTo", source="OMIM:613205", source="DOID:0110640"} xref: UMLS:C2750785 {source="Orphanet:157973", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613205"} is_a: MONDO:0019950 {source="DOID:0110640", source="MONDO:Redundant", source="Orphanet:157973"} ! congenital muscular dystrophy property_value: exactMatch DOID:0110640 property_value: exactMatch http://identifiers.org/mesh/C567708 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750785 property_value: exactMatch https://omim.org/entry/613205 property_value: exactMatch NCIT:C148369 property_value: exactMatch Orphanet:157973 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12585/congenital-muscular-dystrophy-due-to-lmna-mutation xsd:anyURI {source="GARD:0012585"} [Term] id: MONDO:0013179 name: hereditary spastic paraplegia 44 def: "A very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein." [Orphanet:320401] subset: ordo_disease {source="Orphanet:320401"} synonym: "autosomal recessive complex spastic paraplegia caused by mutation in GJC2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 44" EXACT [DOID:0110796] synonym: "autosomal recessive spastic paraplegia type 44" RELATED [Orphanet:320401] synonym: "GJC2 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary spastic paraplegia type 44" EXACT [DOID:0110796, MONDORULE:2] synonym: "spastic paraplegia 44, autosomal recessive" RELATED [MONDO:Lexical, OMIM:613206] synonym: "SPG44" EXACT ABBREVIATION [DOID:0110796, MONDO:Lexical, OMIM:613206, Orphanet:320401] xref: DOID:0110796 {source="MONDO:equivalentTo"} xref: MESH:C567707 {source="MONDO:equivalentTo"} xref: OMIM:613206 {source="MONDO:equivalentTo", source="Orphanet:320401", source="Orphanet:320401/e", source="DOID:0110796"} xref: Orphanet:320401 {source="MONDO:equivalentTo", source="OMIM:613206", source="DOID:0110796"} xref: SCTID:723821002 {source="MONDO:equivalentTo"} xref: UMLS:C2750784 {source="MONDO:equivalentTo", source="OMIM:613206", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:320401", source="Orphanet:320401/e"} is_a: MONDO:0015089 {source="MONDO:Redundant", source="Orphanet:320401"} ! autosomal recessive complex spastic paraplegia property_value: exactMatch DOID:0110796 property_value: exactMatch http://identifiers.org/mesh/C567707 property_value: exactMatch http://identifiers.org/snomedct/723821002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750784 property_value: exactMatch https://omim.org/entry/613206 property_value: exactMatch Orphanet:320401 [Term] id: MONDO:0013182 name: chromosome 17p13.3 duplication syndrome def: "17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features." [Orphanet:217385] subset: ordo_malformation_syndrome {source="Orphanet:217385"} synonym: "17p13.3 duplication syndrome" EXACT [DOID:0060432, Orphanet:217385] synonym: "17p13.3 microduplication syndrome" EXACT [DOID:0060432] synonym: "chromosome 17p13.3 centromeric duplication syndrome" EXACT [DOID:0060432] synonym: "chromosome 17p13.3, centromeric, DUPLICATION syndrome" RELATED [OMIM:613215] synonym: "dup(17)(p13.3)" EXACT [Orphanet:217385] synonym: "trisomy 17p13.3" EXACT [DOID:0060432, Orphanet:217385] xref: DOID:0060432 {source="MONDO:equivalentTo"} xref: MESH:C567705 {source="MONDO:equivalentTo"} xref: OMIM:613215 {source="Orphanet:217385/e", source="DOID:0060432", source="MONDO:equivalentTo", source="Orphanet:217385"} xref: Orphanet:217385 {source="OMIM:613215", source="DOID:0060432", source="MONDO:equivalentTo"} xref: SCTID:719582007 {source="MONDO:equivalentTo"} xref: UMLS:C2750748 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:217385"} xref: UMLS:C4304641 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:217385"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0016950 {source="Orphanet:217385"} ! partial duplication of the short arm of chromosome 17 property_value: exactMatch DOID:0060432 property_value: exactMatch http://identifiers.org/mesh/C567705 property_value: exactMatch http://identifiers.org/snomedct/719582007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750748 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304641 property_value: exactMatch https://omim.org/entry/613215 property_value: exactMatch Orphanet:217385 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:217385"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0013184 name: congenital diarrhea 5 with tufting enteropathy def: "Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure." [Orphanet:92050] subset: ordo_disease {source="Orphanet:92050"} synonym: "congenital diarrhea 5 with tufting enteropathy" EXACT [] synonym: "congenital enteropathy" RELATED [GARD:0010630] synonym: "congenital familial intractable diarrhea with enterocytes assembly abnormalities" RELATED [GARD:0010630] synonym: "congenital familial intractable diarrhea with epithelial or epithelium abnormalities" EXACT [DOID:0060776] synonym: "congenital familial intractable diarrhoea with enterocytes assembly abnormalities" RELATED OMO:0003005 [] synonym: "congenital familial intractable diarrhoea with epithelial or epithelium abnormalities" EXACT OMO:0003005 [] synonym: "congenital tufting enteropathy" EXACT [DOID:0060776] synonym: "DIAR5" EXACT ABBREVIATION [DOID:0060776, MONDO:Lexical, OMIM:613217] synonym: "diarrhea 5, with tufting enteropathy, congenital" RELATED [MONDO:Lexical, OMIM:613217] synonym: "diarrhoea 5, with tufting enteropathy, congenital" RELATED OMO:0003005 [] synonym: "enteropathy, congenital tufting" RELATED [OMIM:613217] synonym: "EPCAM secretory diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "EPCAM secretory diarrhoea" EXACT OMO:0003005 [] synonym: "IED" EXACT ABBREVIATION [Orphanet:92050] synonym: "intestinal epithelial cell dysplasia" RELATED [OMIM:613217] synonym: "intestinal epithelial dysplasia" EXACT [Orphanet:92050] synonym: "secretory diarrhea caused by mutation in EPCAM" EXACT [MONDO:design_pattern] synonym: "secretory diarrhoea caused by mutation in EPCAM" EXACT OMO:0003005 [] synonym: "tufting enteropathy" EXACT [DOID:0060776] xref: DOID:0060776 {source="MONDO:equivalentTo"} xref: MESH:C567703 {source="MONDO:equivalentTo"} xref: OMIM:613217 {source="Orphanet:92050/e", source="DOID:0060776", source="MONDO:equivalentTo", source="Orphanet:92050"} xref: Orphanet:92050 {source="DOID:0060776", source="MONDO:equivalentTo", source="OMIM:613217"} xref: SCTID:715669000 {source="MONDO:equivalentTo"} xref: UMLS:C2750737 {source="MONDO:equivalentTo", source="OMIM:613217", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4275062 {source="MONDO:equivalentTo"} is_a: MONDO:0015182 {source="Orphanet:92050"} ! congenital enteropathy involving intestinal mucosa development is_a: MONDO:0019126 {source="Orphanet:92050"} ! intractable diarrhea of infancy is_a: MONDO:0045032 ! congenital secretory diarrhea property_value: exactMatch DOID:0060776 property_value: exactMatch http://identifiers.org/mesh/C567703 property_value: exactMatch http://identifiers.org/snomedct/715669000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750737 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275062 property_value: exactMatch https://omim.org/entry/613217 property_value: exactMatch Orphanet:92050 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0013187 name: factor XIII, A subunit, deficiency of synonym: "factor XIII, A subunit, deficiency of" EXACT [OMIM:613225] synonym: "factor XIIIA deficiency" EXACT [OMIM:613225, OMIM:genemap2] synonym: "hereditary factor XIII A subunit deficiency" EXACT [] synonym: "hereditary factor XIII alpha subunit deficiency" EXACT [] synonym: "hereditary factor XIII type II deficiency" EXACT [] xref: MESH:C567691 {source="MONDO:equivalentTo"} xref: OMIM:613225 {source="MONDO:equivalentTo"} xref: SCTID:439455002 {source="MONDO:equivalentTo"} xref: UMLS:C2584877 {source="MONDO:equivalentTo"} is_a: MONDO:0018029 {source="MESH:C567691", source="Orphanet:331/btnt"} ! congenital factor XIII deficiency property_value: exactMatch http://identifiers.org/mesh/C567691 property_value: exactMatch http://identifiers.org/snomedct/439455002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2584877 property_value: exactMatch https://omim.org/entry/613225 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013195 name: hypertrophic cardiomyopathy 13 def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "cardiomyopathy familial hypertrophic 13" EXACT [DOID:0110319] synonym: "cardiomyopathy, familial hypertrophic, 13" RELATED [MONDO:Lexical, OMIM:613243] synonym: "cardiomyopathy, familial hypertrophic, type 13" EXACT [MONDORULE:2, OMIM:613243] synonym: "cardiomyopathy, hypertrophic, 13" EXACT [OMIM:613243, OMIM:genemap2] synonym: "CMH13" EXACT ABBREVIATION [DOID:0110319, MONDO:Lexical, OMIM:613243] synonym: "hypertrophic cardiomyopathy caused by mutation in TNNC1" EXACT [MONDO:design_pattern] synonym: "hypertrophic cardiomyopathy type 13" EXACT [DOID:0110319, MONDORULE:2] synonym: "TNNC1 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110319 {source="MONDO:equivalentTo"} xref: MESH:C567686 {source="MONDO:equivalentTo"} xref: OMIM:613243 {source="MONDO:equivalentTo", source="DOID:0110319"} xref: UMLS:C2750472 {source="OMIM:613243", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0024573 {source="MESH:C567686", source="MONDO:OMIM", source="OMIM:613243"} ! familial hypertrophic cardiomyopathy property_value: exactMatch DOID:0110319 property_value: exactMatch http://identifiers.org/mesh/C567686 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750472 property_value: exactMatch https://omim.org/entry/613243 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013196 name: Lynch syndrome 8 def: "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the EPCAM gene." [MONDO:patterns/disease_series_by_gene] synonym: "colorectal cancer, hereditary nonpolyposis, type 8" EXACT [MONDO:Lexical, OMIM:613244] synonym: "EPCAM hereditary nonpolyposis colon cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary nonpolyposis colon cancer caused by mutation in EPCAM" EXACT [MONDO:design_pattern] synonym: "HNPCC8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613244] xref: DOID:0070270 {source="MONDO:equivalentTo"} xref: MESH:C567685 {source="MONDO:equivalentTo"} xref: OMIM:613244 {source="MONDO:equivalentTo"} xref: UMLS:C2750471 {source="OMIM:613244", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018630 {source="MONDO:Redundant", source="OMIM:613244"} ! hereditary nonpolyposis colon cancer property_value: exactMatch DOID:0070270 property_value: exactMatch http://identifiers.org/mesh/C567685 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750471 property_value: exactMatch https://omim.org/entry/613244 property_value: excluded_subClassOf MONDO:0005835 {source="DC-OMIM:613244"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5666 xsd:anyURI [Term] id: MONDO:0013208 name: cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome subset: ordo_disease {source="Orphanet:309854"} synonym: "cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome" EXACT [] synonym: "HMDPC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613280] synonym: "HMNDYT1" RELATED ABBREVIATION [OMIM:613280] synonym: "hypermanganesemia with dystonia 1" RELATED [OMIM:613280] synonym: "hypermanganesemia with dystonia polycythemia and cirrhosis" RELATED [GARD:0010706] synonym: "hypermanganesemia with dystonia, polycythemia, and cirrhosis" RELATED [MONDO:Lexical, OMIM:613280] xref: DOID:0080536 {source="MONDO:equivalentTo"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C548016 {source="MONDO:equivalentTo"} xref: OMIM:613280 {source="Orphanet:309854/e", source="MONDO:equivalentTo", source="Orphanet:309854"} xref: Orphanet:309854 {source="MONDO:equivalentTo", source="OMIM:613280"} xref: SCTID:702377007 {source="MONDO:equivalentTo"} xref: UMLS:CN035550 {source="MONDO:equivalentTo"} is_a: MONDO:0000214 {source="DC-OMIM:613280", source="OMIM:613280"} ! hypermanganesemia with dystonia is_a: MONDO:0017766 {source="Orphanet:309854"} ! disorder of manganese transport is_a: MONDO:0021095 {source="MONDO:0017661-obsoleted"} ! parkinsonian disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare property_value: exactMatch DOID:0080536 property_value: exactMatch http://identifiers.org/mesh/C548016 property_value: exactMatch http://identifiers.org/snomedct/702377007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN035550 property_value: exactMatch https://omim.org/entry/613280 property_value: exactMatch Orphanet:309854 [Term] id: MONDO:0013212 name: Charcot-Marie-Tooth disease axonal type 2N def: "Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow." [Orphanet:228174] subset: ordo_disease {source="Orphanet:228174"} synonym: "AARS Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2N" EXACT [DOID:0110177] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2N" EXACT [DOID:0110177] synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in AARS" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease type 2N" RELATED [GARD:0012429] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2N" RELATED [OMIM:613287] synonym: "Charcot-Marie-Tooth disease, axonal, type 2N" RELATED [MONDO:Lexical, OMIM:613287] synonym: "Charcot-Marie-Tooth neuropathy axonal type 2N" EXACT [DOID:0110177] synonym: "Charcot-Marie-Tooth neuropathy, axonal, type 2N" RELATED [OMIM:613287] synonym: "CMT2N" EXACT ABBREVIATION [DOID:0110177, MONDO:Lexical, OMIM:613287, Orphanet:228174] xref: DOID:0110177 {source="MONDO:equivalentTo"} xref: MESH:C567653 {source="MONDO:equivalentTo"} xref: OMIM:613287 {source="MONDO:equivalentTo", source="Orphanet:228174", source="DOID:0110177", source="Orphanet:228174/e"} xref: Orphanet:228174 {source="OMIM:613287", source="MONDO:equivalentTo", source="DOID:0110177"} xref: SCTID:719515001 {source="MONDO:equivalentTo"} xref: UMLS:C2750090 {source="OMIM:613287", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:228174"} xref: UMLS:C4304671 {source="MONDO:equivalentTo"} is_a: MONDO:0018993 {source="DOID:0110177", source="MONDO:Redundant", source="Orphanet:228174"} ! Charcot-Marie-Tooth disease type 2 property_value: exactMatch DOID:0110177 property_value: exactMatch http://identifiers.org/mesh/C567653 property_value: exactMatch http://identifiers.org/snomedct/719515001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750090 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304671 property_value: exactMatch https://omim.org/entry/613287 property_value: exactMatch Orphanet:228174 [Term] id: MONDO:0013220 name: hemochromatosis type 2B def: "Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HAMP gene." [MONDO:patterns/disease_series_by_gene] synonym: "HAMP hemochromatosis type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hemochromatosis type 2 caused by mutation in HAMP" EXACT [MONDO:design_pattern] synonym: "hemochromatosis, type 2B" RELATED [MONDO:Lexical, OMIM:613313] synonym: "HFE2B" EXACT ABBREVIATION [DOID:0111032, MONDO:Lexical, OMIM:613313] xref: DOID:0111032 {source="MONDO:equivalentTo"} xref: MESH:C566557 {source="MONDO:equivalentTo"} xref: OMIM:613313 {source="MONDO:equivalentTo", source="DOID:0111032"} xref: UMLS:C1865616 {source="OMIM:613313", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019257 {source="DOID:0111032", source="MONDO:Redundant"} ! hemochromatosis type 2 property_value: exactMatch DOID:0111032 property_value: exactMatch http://identifiers.org/mesh/C566557 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865616 property_value: exactMatch https://omim.org/entry/613313 [Term] id: MONDO:0013222 name: Miyoshi muscular dystrophy 3 subset: ordo_disease {source="Orphanet:399096"} synonym: "distal anoctaminopathy" EXACT [Orphanet:399096] synonym: "Miyoshi muscular dystrophy 3" EXACT [MONDO:Lexical, OMIM:613319] synonym: "Miyoshi muscular dystrophy type 3" EXACT [MONDORULE:1, OMIM:613319, Orphanet:399096] synonym: "Miyoshi myopathy 3" RELATED [OMIM:613319] synonym: "MMD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613319, Orphanet:399096] xref: DOID:0070201 {source="MONDO:equivalentTo"} xref: MESH:C567645 {source="MONDO:equivalentTo"} xref: OMIM:613319 {source="Orphanet:399096/e", source="MONDO:equivalentTo", source="Orphanet:399096"} xref: Orphanet:399096 {source="MONDO:equivalentTo", source="OMIM:613319"} xref: UMLS:C2750076 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613319", source="Orphanet:399096"} is_a: MONDO:0009685 {source="OMIM:613319"} ! Miyoshi myopathy property_value: exactMatch DOID:0070201 property_value: exactMatch http://identifiers.org/mesh/C567645 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750076 property_value: exactMatch https://omim.org/entry/613319 property_value: exactMatch Orphanet:399096 [Term] id: MONDO:0013223 name: autosomal recessive spondylometaphyseal dysplasia, Megarbane type def: "Any spondylodysplastic dysplasia in which the cause of the disease is a mutation in the PAM16 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_malformation_syndrome {source="Orphanet:401979"} synonym: "autosomal recessive spondylometaphyseal dysplasia, Mégarbané type" RELATED [Orphanet:401979] synonym: "chondrodysplasia, Megarbane-Dagher-Melki type" RELATED [OMIM:613320] synonym: "PAM16 spondylodysplastic dysplasia" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "SMDMDM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613320] synonym: "spondylodysplastic dysplasia caused by mutation in PAM16" EXACT [] synonym: "spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type" EXACT [OMIM:613320, OMIM:genemap2] synonym: "spondylometaphyseal dysplasia, MEGARBANE-DAGHER-MELKI type" RELATED [MONDO:Lexical, OMIM:613320] xref: DOID:0112304 {source="MONDO:equivalentTo"} xref: MESH:C567644 {source="MONDO:equivalentTo"} xref: OMIM:613320 {source="MONDO:equivalentTo", source="Orphanet:401979", source="Orphanet:401979/e"} xref: Orphanet:401979 {source="OMIM:613320", source="MONDO:equivalentTo"} xref: UMLS:C2750075 {source="OMIM:613320", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:401979"} is_a: MONDO:0016763 {source="OMIM:613320"} ! spondylometaphyseal dysplasia is_a: MONDO:0800080 {source="PMID:31633310"} ! severe spondylodysplastic dysplasia property_value: exactMatch DOID:0112304 property_value: exactMatch http://identifiers.org/mesh/C567644 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750075 property_value: exactMatch https://omim.org/entry/613320 property_value: exactMatch Orphanet:401979 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0013225 name: congenital generalized lipodystrophy type 4 def: "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAVIN1 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:228429"} synonym: "Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy" EXACT [DOID:0111138] synonym: "Berardinelli-Seip congenital lipodystrophy, type 4, with muscular dystrophy" RELATED [OMIM:613327] synonym: "BSCL4" EXACT ABBREVIATION [DOID:0111138] synonym: "CAVIN1 congenital generalised lipodystrophy (disease)" EXACT OMO:0003005 [] synonym: "CAVIN1 congenital generalized lipodystrophy (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "CGL4" EXACT ABBREVIATION [DOID:0111138, MONDO:Lexical, OMIM:613327] synonym: "congenital generalised lipodystrophy (disease) caused by mutation in CAVIN1" EXACT OMO:0003005 [] synonym: "congenital generalized lipodystrophy (disease) caused by mutation in CAVIN1" EXACT [] synonym: "GCL4" EXACT ABBREVIATION [DOID:0111138, Orphanet:228429] synonym: "generalised congenital lipodystrophy type 4" EXACT OMO:0003005 [] synonym: "generalised congenital lipodystrophy with myopathy" EXACT OMO:0003005 [] synonym: "generalized congenital lipodystrophy type 4" EXACT [DOID:0111138, Orphanet:228429] synonym: "generalized congenital lipodystrophy with myopathy" EXACT [DOID:0111138] synonym: "lipodystrophy, Berardinelli-Seip congenital, type 4, with muscular dystrophy" RELATED [OMIM:613327] synonym: "lipodystrophy, congenital generalized, type 4" RELATED [MONDO:Lexical, OMIM:613327] xref: DOID:0111138 {source="MONDO:equivalentTo"} xref: MESH:C567642 {source="MONDO:equivalentTo"} xref: OMIM:613327 {source="DOID:0111138", source="Orphanet:228429", source="MONDO:equivalentTo", source="Orphanet:228429/e"} xref: Orphanet:228429 {source="DOID:0111138", source="MONDO:equivalentObsolete", source="OMIM:613327"} xref: UMLS:C2750069 {source="Orphanet:228429", source="MONDO:equivalentTo", source="OMIM:613327", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:1000681 {source="DC-OMIM:613327", source="DOID:0111138", source="MONDO:Redundant", source="OMIM:613327"} ! congenital generalized lipodystrophy relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch DOID:0111138 property_value: exactMatch http://identifiers.org/mesh/C567642 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750069 property_value: exactMatch https://omim.org/entry/613327 property_value: excluded_subClassOf MONDO:0005015 {source="MONDO:0015885-obsoleted"} property_value: excluded_subClassOf MONDO:0005336 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5723 xsd:anyURI [Term] id: MONDO:0013226 name: combined immunodeficiency with faciooculoskeletal anomalies def: "Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia)." [Orphanet:221139] subset: ordo_disease {source="Orphanet:221139"} synonym: "combined immunodeficiency, Facial Dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay" RELATED [OMIM:613328] synonym: "ROIFMAN-Chitayat syndrome" RELATED [OMIM:613328] synonym: "Roifman-Chitayat syndrome" EXACT [Orphanet:221139] synonym: "Roifman-Chitayat syndrome, digenic" EXACT [OMIM:613328, OMIM:genemap2] xref: MESH:C567641 {source="MONDO:equivalentTo"} xref: OMIM:613328 {source="MONDO:equivalentTo", source="Orphanet:221139", source="Orphanet:221139/e"} xref: Orphanet:221139 {source="MONDO:equivalentTo", source="OMIM:613328"} xref: UMLS:C2750068 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613328", source="Orphanet:221139"} is_a: MONDO:0015160 {source="Orphanet:221139"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0015823 ! primary immunodeficiency due to a defect in adaptive immunity property_value: exactMatch http://identifiers.org/mesh/C567641 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750068 property_value: exactMatch https://omim.org/entry/613328 property_value: exactMatch Orphanet:221139 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013227 name: congenital plasminogen activator inhibitor type 1 deficiency def: "Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency." [Orphanet:465] subset: ordo_disease {source="Orphanet:465"} synonym: "congenital PAI-1 deficiency" EXACT [Orphanet:465] synonym: "congenital plasminogen activator inhibitor type 1 deficiency" EXACT [] synonym: "hyperfibrinolysis due to Pai1 deficiency" RELATED [OMIM:613329] synonym: "plasminogen activator inhibitor type 1 deficiency" RELATED [GARD:0004381] synonym: "plasminogen activator INHIBITOR-1 deficiency" RELATED [OMIM:613329] xref: MESH:C567640 {source="MONDO:equivalentTo"} xref: NCIT:C133884 {source="MONDO:equivalentTo"} xref: OMIM:613329 {source="Orphanet:465/e", source="MONDO:equivalentTo", source="Orphanet:465"} xref: Orphanet:465 {source="MONDO:equivalentTo", source="OMIM:613329"} xref: SCTID:717407006 {source="MONDO:equivalentTo"} is_a: MONDO:0002242 {source="MONDO:0019039-obsoleted"} ! coagulation protein disease is_a: MONDO:0002243 ! hemorrhagic disease is_a: MONDO:0009332 ! congenital hematological disorder property_value: exactMatch http://identifiers.org/mesh/C567640 property_value: exactMatch http://identifiers.org/snomedct/717407006 property_value: exactMatch https://omim.org/entry/613329 property_value: exactMatch NCIT:C133884 property_value: exactMatch Orphanet:465 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0013228 name: spondylo-megaepiphyseal-metaphyseal dysplasia subset: ordo_disease {source="Orphanet:228387"} synonym: "SMMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613330] synonym: "spondylo-megaepiphyseal-metaphyseal dysplasia" EXACT [MONDO:Lexical, OMIM:613330] xref: MESH:C567639 {source="MONDO:equivalentTo"} xref: OMIM:613330 {source="Orphanet:228387/e", source="MONDO:equivalentTo", source="Orphanet:228387"} xref: Orphanet:228387 {source="MONDO:equivalentTo", source="OMIM:613330"} xref: UMLS:C2750066 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:228387", source="OMIM:613330"} is_a: MONDO:0016761 {source="Orphanet:228387"} ! spondyloepiphyseal dysplasia is_a: MONDO:0800075 {source="PMID:31633310"} ! dysostosis with predominant vertebral with and without costal involvement property_value: exactMatch http://identifiers.org/mesh/C567639 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750066 property_value: exactMatch https://omim.org/entry/613330 property_value: exactMatch Orphanet:228387 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0013232 name: brachydactylous dwarfism, Mseleni type def: "Mseleni joint disease (MJD) is a rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short staure and brachydactyly have been reported in a few patients with MJD." [Orphanet:2619] subset: ordo_disease {source="Orphanet:2619"} synonym: "brachydactylous dwarfism Mseleni type" RELATED [GARD:0000960] synonym: "brachydactylous dwarfs of Mseleni" RELATED [GARD:0000960] synonym: "Mseleni JOINT disease" RELATED [OMIM:613342] synonym: "Mseleni joint disease" EXACT [Orphanet:2619] xref: MESH:C537086 {source="Orphanet:2619/e", source="MONDO:equivalentTo", source="Orphanet:2619"} xref: OMIM:613342 {source="Orphanet:2619/e", source="MONDO:equivalentTo", source="Orphanet:2619"} xref: Orphanet:2619 {source="OMIM:613342", source="MONDO:equivalentTo"} xref: SCTID:715470008 {source="MONDO:equivalentTo"} xref: UMLS:C2931420 {source="Orphanet:2619/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2619"} is_a: MONDO:0016761 {source="Orphanet:2619"} ! spondyloepiphyseal dysplasia property_value: exactMatch http://identifiers.org/mesh/C537086 property_value: exactMatch http://identifiers.org/snomedct/715470008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931420 property_value: exactMatch https://omim.org/entry/613342 property_value: exactMatch Orphanet:2619 [Term] id: MONDO:0013233 name: spondyloepimetaphyseal dysplasia, Handigodu type def: "A rare, genetic, primary bone dysplasia characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dyspalstic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces and sclerotic and cystic changes on imaging." [https://orcid.org/0000-0001-5208-3432, Orphanet:99642] subset: ordo_disease {source="Orphanet:99642"} synonym: "Handigodu JOINT disease" RELATED [OMIM:613343] synonym: "Hjd" RELATED [OMIM:613343] synonym: "spondyloepimetaphyseal dysplasia, Handigodu type" EXACT [OMIM:613343] xref: OMIM:613343 {source="Orphanet:99642", source="MONDO:equivalentTo", source="Orphanet:99642/e"} xref: Orphanet:99642 {source="OMIM:613343", source="MONDO:equivalentTo"} xref: UMLS:C3150545 {source="OMIM:613343", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0100510 {source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150545 property_value: exactMatch https://omim.org/entry/613343 property_value: exactMatch Orphanet:99642 property_value: excluded_subClassOf MONDO:0016761 {source="Orphanet:99642"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5280 xsd:anyURI [Term] id: MONDO:0013237 name: susceptibility to mononeuropathy of the median nerve, mild synonym: "carpal tunnel syndrome, susceptibility to" RELATED [OMIM:613353] synonym: "MNMN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613353] synonym: "mononeuropathy of the median nerve, mild" EXACT [MONDO:Lexical, OMIM:613353] xref: OMIM:613353 {source="MONDO:equivalentTo"} xref: UMLS:C3150596 {source="OMIM:613353", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0020573 {source="OMIM:613353"} ! inherited disease susceptibility property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150596 property_value: exactMatch https://omim.org/entry/613353 property_value: excluded_subClassOf MONDO:0007275 [Term] id: MONDO:0013238 name: chromosome 17q23.1-q23.2 deletion syndrome def: "17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities." [Orphanet:261279] subset: ordo_malformation_syndrome {source="Orphanet:261279"} synonym: "17q23.1-q23.2 microdeletion syndrome" EXACT [DOID:0060405, Orphanet:261279] synonym: "17q23.1q23.2 microdeletion syndrome" EXACT [DOID:0060405] synonym: "chromosome 17q23.1-q23.2 deletion syndrome" EXACT [OMIM:613355] synonym: "chromosome 17q23.1-q23.2 deletion syndrome, isolated cases" EXACT [OMIM:613355, OMIM:genemap2] synonym: "Del(17)(q23.1q23.2)" EXACT [Orphanet:261279] synonym: "monosomy 17q23.1-q23.2" EXACT [Orphanet:261279] synonym: "monosomy 17q23.1q23.2" EXACT [Orphanet:261279] xref: DOID:0060405 {source="MONDO:equivalentTo"} xref: OMIM:613355 {source="MONDO:equivalentTo", source="Orphanet:261279", source="DOID:0060405", source="Orphanet:261279/e"} xref: Orphanet:261279 {source="OMIM:613355", source="MONDO:equivalentTo", source="DOID:0060405"} xref: SCTID:719584008 {source="MONDO:equivalentTo"} xref: UMLS:C3150607 {source="OMIM:613355", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4304591 {source="MONDO:equivalentTo"} is_a: MONDO:0016915 {source="Orphanet:261279"} ! partial deletion of the long arm of chromosome 17 property_value: exactMatch DOID:0060405 property_value: exactMatch http://identifiers.org/snomedct/719584008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150607 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304591 property_value: exactMatch https://omim.org/entry/613355 property_value: exactMatch Orphanet:261279 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013239 name: hereditary spastic paraplegia 41 def: "Autosomal dominant spastic paraplegia type 41 is a pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise." [Orphanet:320355] subset: ordo_disease {source="Orphanet:320355"} synonym: "autosomal dominant spastic paraplegia 41" EXACT [DOID:0110793] synonym: "autosomal dominant spastic paraplegia type 41" EXACT [DOID:0110793] synonym: "hereditary spastic paraplegia type 41" EXACT [DOID:0110793, MONDORULE:2] synonym: "spastic paraplegia 41, autosomal dominant" RELATED [MONDO:Lexical, OMIM:613364] synonym: "SPG41" EXACT ABBREVIATION [DOID:0110793, MONDO:Lexical, OMIM:613364, Orphanet:320355] xref: DOID:0110793 {source="MONDO:equivalentTo"} xref: OMIM:613364 {source="Orphanet:320355", source="MONDO:equivalentTo", source="Orphanet:320355/e", source="DOID:0110793"} xref: Orphanet:320355 {source="OMIM:613364", source="MONDO:equivalentTo", source="DOID:0110793"} xref: SCTID:763069002 {source="MONDO:equivalentTo"} xref: UMLS:CN203988 {source="MONDO:equivalentTo"} is_a: MONDO:0015088 {source="Orphanet:320355"} ! autosomal dominant pure spastic paraplegia property_value: exactMatch DOID:0110793 property_value: exactMatch http://identifiers.org/snomedct/763069002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203988 property_value: exactMatch https://omim.org/entry/613364 property_value: exactMatch Orphanet:320355 [Term] id: MONDO:0013241 name: spinocerebellar ataxia type 30 def: "Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by a slowly progressive and relatively pure ataxia." [Orphanet:211017] subset: gard_rare subset: ordo_disease {source="Orphanet:211017"} synonym: "SCA30" EXACT ABBREVIATION [GARD:0004950, MONDO:Lexical, OMIM:613371, Orphanet:211017] synonym: "spinocerebellar ataxia 30" RELATED [MONDO:Lexical, OMIM:613371] synonym: "spinocerebellar ataxia type 30" EXACT [GARD:0004950] xref: DOID:0050979 {source="MONDO:equivalentTo"} xref: MESH:C537206 {source="MONDO:relatedTo", source="Orphanet:211017", source="Orphanet:211017/e"} xref: MESH:C575214 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2212"} xref: OMIM:613371 {source="MONDO:equivalentTo", source="Orphanet:211017", source="DOID:0050979", source="Orphanet:211017/e"} xref: Orphanet:211017 {source="MONDO:equivalentTo", source="OMIM:613371"} xref: SCTID:719253007 {source="MONDO:equivalentTo"} xref: UMLS:C2936793 {source="GARD:0004950", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:211017", source="OMIM:613371", source="Orphanet:211017/e"} xref: UMLS:C4304845 {source="MONDO:equivalentObsolete"} is_a: MONDO:0019793 {source="Orphanet:211017"} ! autosomal dominant cerebellar ataxia type III property_value: exactMatch DOID:0050979 property_value: exactMatch http://identifiers.org/mesh/C575214 property_value: exactMatch http://identifiers.org/snomedct/719253007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2936793 property_value: exactMatch https://omim.org/entry/613371 property_value: exactMatch Orphanet:211017 [Term] id: MONDO:0013245 name: syndromic multisystem autoimmune disease due to ITCH deficiency subset: gard_rare subset: ordo_disease {source="Orphanet:228426"} synonym: "ADMFD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613385] synonym: "autoimmune disease, multisystem, with facial dysmorphism" RELATED [MONDO:Lexical, OMIM:613385] synonym: "autoimmune disease, syndromic multisystem" RELATED [GARD:0010775] synonym: "ITCH E3 ubiquitin ligase deficiency" RELATED [GARD:0010775] synonym: "syndromic multisystem autoimmune disease" RELATED [GARD:0010775] synonym: "syndromic multisystem autoimmune disease due to ITCH deficiency" EXACT [] xref: OMIM:613385 {source="Orphanet:228426", source="GARD:0010775", source="MONDO:equivalentTo", source="Orphanet:228426/e"} xref: Orphanet:228426 {source="MONDO:equivalentTo", source="OMIM:613385"} xref: UMLS:C3150649 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613385"} is_a: MONDO:0015159 {source="Orphanet:228426"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150649 property_value: exactMatch https://omim.org/entry/613385 property_value: exactMatch Orphanet:228426 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:228426"} property_value: excluded_subClassOf MONDO:0005020 {source="MONDO:Redundant", source="Orphanet:228426", source="Orphanet:228426/inferred"} property_value: excluded_subClassOf MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:228426"} property_value: excluded_subClassOf MONDO:0019126 {source="Orphanet:228426"} property_value: excluded_subClassOf MONDO:0019787 {source="Orphanet:228426"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10775/itch-e3-ubiquitin-ligase-deficiency xsd:anyURI {source="GARD:0010775"} [Term] id: MONDO:0013251 name: Birbeck granule deficiency synonym: "Birbeck granule deficiency" EXACT [OMIM:613393, OMIM:genemap2] synonym: "Birbeck granules, absence of" RELATED [OMIM:613393] xref: OMIM:613393 {source="MONDO:equivalentTo"} xref: UMLS:C3150657 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613393"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150657 property_value: exactMatch https://omim.org/entry/613393 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013252 name: Warsaw breakage syndrome def: "A syndrome mainly characterized by severe growth retardation and microcephaly. It is a new form of cohesinopathy showing defects in sister chromatid cohesion and hypersensitivity to chemicals that induce replication stress, thus combining distinct cytogenetic features seen in Roberts syndrome and Fanconi anemia, respectively. It has material basis in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11." [DOID:0060535, PMID:20137776, PMID:21490908, PMID:23033317, PMID:26089203] subset: ordo_malformation_syndrome {source="Orphanet:280558"} synonym: "WABS" EXACT ABBREVIATION [DOID:0060535, MONDO:Lexical, OMIM:613398, Orphanet:280558] synonym: "WARSAW breakage syndrome" RELATED [OMIM:613398] synonym: "Warsaw breakage syndrome" EXACT [MONDO:Lexical, OMIM:613398] xref: DOID:0060535 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C164675 {source="MONDO:equivalentTo"} xref: OMIM:613398 {source="Orphanet:280558", source="MONDO:equivalentTo", source="Orphanet:280558/e", source="DOID:0060535"} xref: Orphanet:280558 {source="OMIM:613398", source="MONDO:equivalentTo", source="DOID:0060535"} xref: SCTID:702829000 {source="MONDO:equivalentTo"} xref: UMLS:C3150658 {source="OMIM:613398", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015161 {source="Orphanet:280558"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch DOID:0060535 property_value: exactMatch http://identifiers.org/snomedct/702829000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150658 property_value: exactMatch https://omim.org/entry/613398 property_value: exactMatch NCIT:C164675 property_value: exactMatch Orphanet:280558 [Term] id: MONDO:0013254 name: microcephaly, seizures, and developmental delay subset: gard_rare {source="GARD:0010933"} synonym: "early infantile epileptic encephalopathy-10" RELATED [GARD:0010933] synonym: "EIEE10" RELATED ABBREVIATION [GARD:0010933] synonym: "epileptic encephalopathy, early infantile, 10" RELATED [OMIM:613402] synonym: "MCSZ" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613402] synonym: "microcephaly - seizures - developmental delay" RELATED [GARD:0010933] synonym: "microcephaly, seizures, and developmental delay" EXACT [MONDO:Lexical, OMIM:613402] xref: DOID:0080457 {source="MONDO:equivalentTo"} xref: OMIM:613402 {source="MONDO:equivalentTo"} xref: Orphanet:228418 {source="MONDO:equivalentObsolete", source="GARD:0010933"} xref: UMLS:C3150667 {source="OMIM:613402", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0001149 {source="https://orcid.org/0000-0001-6330-7526"} ! microcephaly is_a: MONDO:0100062 {source="DC-OMIM:613402", source="OMIM:613402"} ! developmental and epileptic encephalopathy is_a: MONDO:0957008 ! hereditary cerebral malformation property_value: exactMatch DOID:0080457 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150667 property_value: exactMatch https://omim.org/entry/613402 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1753 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10933/microcephaly-seizures-and-developmental-delay xsd:anyURI {source="GARD:0010933"} [Term] id: MONDO:0013256 name: chromosome 15q24 deletion syndrome def: "15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies." [Orphanet:94065] subset: ordo_malformation_syndrome {source="Orphanet:94065"} synonym: "15q24 microdeletion syndrome" EXACT [DOID:0060395, MONDO:0019785] synonym: "15q24 recurrent microdeletion syndrome" EXACT [DECIPHER:66] synonym: "chromosome 15q24 deletion syndrome" EXACT [OMIM:613406] synonym: "chromosome 15Q24 Duplication syndrome" RELATED [OMIM:613406] synonym: "Del(15)(q24)" EXACT [Orphanet:94065] synonym: "monosomy 15q24" EXACT [Orphanet:94065] synonym: "WITKOS" RELATED ABBREVIATION [OMIM:613406] synonym: "Witteveen-Kolk syndrome" RELATED [OMIM:613406] xref: DECIPHER:66 {source="MONDO:equivalentTo"} xref: DOID:0060395 {source="MONDO:equivalentTo"} xref: MESH:C579849 {source="DOID:0060395", source="MONDO:equivalentTo"} xref: OMIM:613406 {source="DOID:0060395", source="Orphanet:94065", source="Orphanet:94065/ntbt", source="MONDO:equivalentTo"} xref: Orphanet:94065 {source="DOID:0060395", source="MONDO:equivalentTo", source="OMIM:613406"} xref: SCTID:699308002 {source="MONDO:equivalentTo"} xref: UMLS:C3150674 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613406"} xref: UMLS:CN237818 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:94065", source="Orphanet:94065/inferred"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0016913 {source="Orphanet:94065"} ! partial deletion of the long arm of chromosome 15 property_value: exactMatch DOID:0060395 property_value: exactMatch http://identifiers.org/mesh/C579849 property_value: exactMatch http://identifiers.org/snomedct/699308002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150674 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237818 property_value: exactMatch https://omim.org/entry/613406 property_value: exactMatch Orphanet:94065 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:94065", source="Orphanet:94065/inferred"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0013267 name: distal 16p11.2 microdeletion syndrome def: "Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated." [Orphanet:261222] subset: ordo_malformation_syndrome {source="Orphanet:261222"} synonym: "body mass index QTL16" EXACT [OMIM:613444, OMIM:genemap2] synonym: "body Mass index quantitative trait locus 16" RELATED [OMIM:613444] synonym: "chromosome 16p11.2 deletion syndrome, 220-KB" RELATED [OMIM:613444] synonym: "chromosome 16p11.2 deletion syndrome, 220kb" RELATED [DOID:0060398] synonym: "chromosome 16p11.2 deletion syndrome, type 220kb" EXACT [DOID:0060398, MONDORULE:9] synonym: "distal 16p11.2 microdeletion syndrome" EXACT [DOID:0060398] synonym: "distal del(16)(p11.2)" EXACT [Orphanet:261222] synonym: "distal monosomy 16p11.2" EXACT [Orphanet:261222] synonym: "obesity, susceptibility to" RELATED [OMIM:613444] xref: DOID:0060398 {source="MONDO:equivalentTo"} xref: OMIM:613444 {source="DOID:0060398", source="MONDO:equivalentTo", source="Orphanet:261222", source="Orphanet:261222/e"} xref: Orphanet:261222 {source="DOID:0060398", source="OMIM:613444", source="MONDO:equivalentTo"} xref: SCTID:733521003 {source="MONDO:equivalentTo"} xref: UMLS:C3150701 {source="OMIM:613444", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4518824 {source="MONDO:equivalentTo"} is_a: MONDO:0016565 {source="Orphanet:261222"} ! syndromic genetic obesity is_a: MONDO:0016894 {source="Orphanet:261222"} ! partial deletion of the short arm of chromosome 16 property_value: exactMatch DOID:0060398 property_value: exactMatch http://identifiers.org/snomedct/733521003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150701 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518824 property_value: exactMatch https://omim.org/entry/613444 property_value: exactMatch Orphanet:261222 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013268 name: frontonasal dysplasia with alopecia and genital anomaly def: "Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism." [Orphanet:228390] subset: gard_rare {source="GARD:0012641"} subset: ordo_malformation_syndrome {source="Orphanet:228390"} synonym: "ALX4-related FNDAG" EXACT [Orphanet:228390] synonym: "craniofrontonasal dysplasia with alopecia and hypogonadism" EXACT [Orphanet:228390] synonym: "FND2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613451] synonym: "frontonasal dysplasia 2" RELATED [MONDO:Lexical, OMIM:613451] synonym: "frontonasal dysplasia type 2" EXACT [MONDORULE:1, OMIM:613451] synonym: "frontonasal dysplasia with alopecia and genital abnomality" EXACT [Orphanet:228390] xref: DOID:0081046 {source="MONDO:equivalentTo"} xref: OMIM:613451 {source="Orphanet:228390", source="MONDO:equivalentTo", source="Orphanet:228390/e"} xref: Orphanet:228390 {source="MONDO:equivalentTo", source="OMIM:613451"} xref: SCTID:725029001 {source="MONDO:equivalentTo"} xref: UMLS:C3150703 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613451"} is_a: MONDO:0016643 {source="DC-OMIM:613451", source="OMIM:613451", source="Orphanet:228390"} ! frontonasal dysplasia is_a: MONDO:0021034 {source="Orphanet:228390"} ! hereditary alopecia is_a: MONDO:0800085 {source="PMID:31633310"} ! dysostosis with predominant craniofacial involvement property_value: exactMatch DOID:0081046 property_value: exactMatch http://identifiers.org/snomedct/725029001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150703 property_value: exactMatch https://omim.org/entry/613451 property_value: exactMatch Orphanet:228390 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12641/frontonasal-dysplasia-with-alopecia-and-genital-anomaly xsd:anyURI {source="GARD:0012641"} [Term] id: MONDO:0013271 name: frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome subset: gard_rare {source="GARD:0012640"} subset: ordo_malformation_syndrome {source="Orphanet:306542"} synonym: "ALX1-related frontonasal dysplasia" EXACT [Orphanet:306542] synonym: "FND3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613456] synonym: "frontonasal dysplasia 3" RELATED [GARD:0012640, MONDO:Lexical, OMIM:613456] synonym: "frontonasal dysplasia type 3" EXACT [MONDORULE:1, OMIM:613456] xref: DOID:0081047 {source="MONDO:equivalentTo"} xref: OMIM:613456 {source="Orphanet:306542/e", source="MONDO:equivalentTo", source="Orphanet:306542"} xref: Orphanet:306542 {source="OMIM:613456", source="MONDO:equivalentTo"} xref: UMLS:C3150706 {source="OMIM:613456", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015334 {source="Orphanet:306542"} ! branchial arch or oral-acral syndrome is_a: MONDO:0016643 {source="DC-OMIM:613456", source="OMIM:613456", source="Orphanet:306542"} ! frontonasal dysplasia is_a: MONDO:0800085 {source="PMID:31633310"} ! dysostosis with predominant craniofacial involvement property_value: exactMatch DOID:0081047 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150706 property_value: exactMatch https://omim.org/entry/613456 property_value: exactMatch Orphanet:306542 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12640/frontonasal-dysplasia-severe-microphthalmia-severe-facial-clefting-syndrome xsd:anyURI {source="GARD:0012640"} [Term] id: MONDO:0013272 name: chromosome 14q11-q22 deletion syndrome def: "14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism." [Orphanet:261120] subset: ordo_malformation_syndrome {source="Orphanet:261120"} synonym: "14q11.2 microdeletion syndrome" EXACT [DOID:0060392] synonym: "chromosome 14q11-q22 deletion syndrome" EXACT [OMIM:613457] synonym: "chromosome 14q11-q22 deletion syndrome, isolated cases" EXACT [OMIM:613457, OMIM:genemap2] synonym: "Del(14)(q11.2)" EXACT [Orphanet:261120] synonym: "monosomy 14q11.2" EXACT [Orphanet:261120] xref: DOID:0060392 {source="MONDO:equivalentTo"} xref: OMIM:613457 {source="Orphanet:261120", source="MONDO:equivalentTo", source="Orphanet:261120/e", source="DOID:0060392"} xref: Orphanet:261120 {source="OMIM:613457", source="MONDO:equivalentTo", source="DOID:0060392"} xref: SCTID:719047001 {source="MONDO:equivalentTo"} xref: UMLS:C3150707 {source="OMIM:613457", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4304999 {source="MONDO:equivalentTo"} is_a: MONDO:0016912 {source="Orphanet:261120"} ! partial deletion of the long arm of chromosome 14 property_value: exactMatch DOID:0060392 property_value: exactMatch http://identifiers.org/snomedct/719047001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150707 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304999 property_value: exactMatch https://omim.org/entry/613457 property_value: exactMatch Orphanet:261120 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013273 name: chromosome 16p13.3 duplication syndrome def: "16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems." [Orphanet:96078] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:96078"} synonym: "16p13.3 duplication" RELATED [GARD:0010755] synonym: "16p13.3 microduplication syndrome" EXACT [DOID:0060431] synonym: "chromosome 16p13.3 duplication" RELATED [GARD:0010755] synonym: "chromosome 16p13.3 duplication syndrome" EXACT [OMIM:613458] synonym: "chromosome 16p13.3 duplication syndrome, isolated cases" EXACT [OMIM:613458, OMIM:genemap2] synonym: "distal duplication 16p" EXACT [DOID:0060431, Orphanet:96078] synonym: "distal trisomy 16p" EXACT [DOID:0060431, Orphanet:96078] synonym: "dup(16)(p13.3)" EXACT [Orphanet:96078] synonym: "interstitial 16p13.3 duplication" RELATED [GARD:0010755] synonym: "telomeric duplication 16p" EXACT [DOID:0060431, Orphanet:96078] synonym: "trisomy 16pter" EXACT [Orphanet:96078] xref: DOID:0060431 {source="MONDO:equivalentTo"} xref: OMIM:613458 {source="Orphanet:96078", source="DOID:0060431", source="MONDO:equivalentTo", source="Orphanet:96078/e", source="GARD:0010755"} xref: Orphanet:96078 {source="DOID:0060431", source="MONDO:equivalentTo", source="OMIM:613458", source="GARD:0010755"} xref: SCTID:733473000 {source="MONDO:equivalentTo"} xref: UMLS:C3150708 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613458"} xref: UMLS:C4518796 {source="MONDO:equivalentTo"} is_a: MONDO:0016949 {source="Orphanet:96078"} ! partial duplication of the short arm of chromosome 16 property_value: exactMatch DOID:0060431 property_value: exactMatch http://identifiers.org/snomedct/733473000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150708 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518796 property_value: exactMatch https://omim.org/entry/613458 property_value: exactMatch Orphanet:96078 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10755/chromosome-16p133-duplication xsd:anyURI {source="GARD:0010755"} [Term] id: MONDO:0013275 name: hemolytic anemia due to glucophosphate isomerase deficiency def: "Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia." [Orphanet:712] subset: gard_rare subset: ordo_disease {source="Orphanet:712"} synonym: "glucosephosphate isomerase deficiency" EXACT [GARD:0002502] synonym: "hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency" RELATED [OMIM:613470] xref: OMIM:613470 {source="Orphanet:712", source="MONDO:equivalentTo", source="Orphanet:712/e"} xref: Orphanet:712 {source="MONDO:equivalentTo", source="OMIM:613470"} xref: UMLS:C3150730 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613470"} xref: UMLS:CN072763 {source="MONDO:equivalentTo"} is_a: EFO:1000641 ! congenital nonspherocytic hemolytic anemia is_a: MONDO:0017688 {source="MONDO:Redundant", source="Orphanet:712", source="PMID:33340416"} ! disorder of glycolysis is_a: MONDO:0020585 ! anemia due to erythrocyte enzyme disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150730 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN072763 property_value: exactMatch https://omim.org/entry/613470 property_value: exactMatch Orphanet:712 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0013276 name: Reynolds syndrome def: "An autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc)." [https://orcid.org/0000-0001-5208-3432, Orphanet:779] subset: gard_rare {source="GARD:0004697"} subset: ordo_disease {source="Orphanet:779"} synonym: "primary biliary cirrhosis and systemic scleroderma" EXACT [Orphanet:779] synonym: "primary biliary cirrhosis, Scleroderma, Raynaud disease, and telangiectasia" RELATED [OMIM:613471] synonym: "Reynolds syndrome" EXACT [OMIM:613471] xref: OMIM:613471 {source="Orphanet:779", source="MONDO:equivalentTo", source="Orphanet:779/e"} xref: Orphanet:779 {source="MONDO:equivalentTo", source="OMIM:613471"} xref: SCTID:715401008 {source="MONDO:equivalentTo"} xref: UMLS:C0748397 {source="Orphanet:779", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613471"} is_a: EFO:0005809 {source="https://orcid.org/0000-0001-5208-3432"} ! type II hypersensitivity reaction disease property_value: exactMatch http://identifiers.org/snomedct/715401008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0748397 property_value: exactMatch https://omim.org/entry/613471 property_value: exactMatch Orphanet:779 property_value: excluded_subClassOf MONDO:0019724 {source="Orphanet:779"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4697/reynolds-syndrome xsd:anyURI {source="GARD:0004697"} [Term] id: MONDO:0013279 name: long QT syndrome 13 def: "Any long QT syndrome in which the cause of the disease is a mutation in the KCNJ5 gene." [MONDO:patterns/disease_series_by_gene] synonym: "KCNJ5 long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "long QT syndrome 13" EXACT [MONDO:Lexical, OMIM:613485] synonym: "long QT syndrome caused by mutation in KCNJ5" EXACT [MONDO:design_pattern] synonym: "long QT syndrome type 13" EXACT [DOID:0110654, MONDORULE:2, OMIM:613485] synonym: "LQT13" EXACT ABBREVIATION [DOID:0110654, MONDO:Lexical, OMIM:613485] xref: DOID:0110654 {source="MONDO:equivalentTo"} xref: OMIM:613485 {source="DOID:0110654", source="MONDO:equivalentTo"} xref: Orphanet:101016 {source="OMIM:613485", source="MONDO:directSiblingOf"} xref: UMLS:C3150733 {source="OMIM:613485", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019171 {source="OMIM:613485", source="Orphanet:101016-prototype"} ! familial long QT syndrome property_value: exactMatch DOID:0110654 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150733 property_value: exactMatch https://omim.org/entry/613485 [Term] id: MONDO:0013281 name: COG4-congenital disorder of glycosylation def: "COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia." [Orphanet:263501] subset: ordo_disease {source="Orphanet:263501"} synonym: "carbohydrate deficient glycoprotein syndrome type IIj" EXACT [Orphanet:263501] synonym: "CDG IIj" RELATED [OMIM:613489] synonym: "CDG syndrome type IIj" EXACT [Orphanet:263501] synonym: "CDG-IIj" EXACT [Orphanet:263501] synonym: "CDG2J" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613489, Orphanet:263501] synonym: "COG4-CDG" EXACT ABBREVIATION [Orphanet:263501] synonym: "COG4-CDG (CDG-IIj)" RELATED [GARD:0012412] synonym: "COG4-congenital disorder of glycosylation" EXACT [] synonym: "congenital disorder of glycosylation type 2j" EXACT [Orphanet:263501] synonym: "congenital disorder of glycosylation type IIj" EXACT [Orphanet:263501] synonym: "congenital disorder of glycosylation, type IIj" RELATED [MONDO:Lexical, OMIM:613489] xref: DOID:0070262 {source="MONDO:equivalentTo"} xref: OMIM:613489 {source="MONDO:equivalentTo", source="Orphanet:263501", source="Orphanet:263501/e"} xref: Orphanet:263501 {source="OMIM:613489", source="MONDO:equivalentTo"} xref: SCTID:718751000 {source="MONDO:equivalentTo"} xref: UMLS:C3150736 {source="OMIM:613489", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0005546 {source="DC-OMIM:613489", source="OMIM:613489"} ! congenital disorder of glycosylation type II is_a: MONDO:0017750 {source="Orphanet:263501"} ! defect in conserved oligomeric Golgi complex relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch DOID:0070262 property_value: exactMatch http://identifiers.org/snomedct/718751000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150736 property_value: exactMatch https://omim.org/entry/613489 property_value: exactMatch Orphanet:263501 [Term] id: MONDO:0013282 name: alpha 1-antitrypsin deficiency def: "Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis." [Orphanet:60] subset: gard_rare {source="GARD:0005784"} subset: ordo_disease {source="Orphanet:60"} synonym: "A-1ATD" EXACT [NCIT:C84397] synonym: "A1AD" EXACT ABBREVIATION [NCIT:C84397] synonym: "A1AT deficiency" RELATED [GARD:0005784] synonym: "A1ATD" RELATED ABBREVIATION [OMIM:613490] synonym: "AAT deficiency" EXACT [DOID:13372] synonym: "AATD" RELATED ABBREVIATION [GARD:0005784] synonym: "Alpha 1 antitrypsin deficiency" RELATED [GARD:0005784] synonym: "alpha 1-antitrypsin deficiency" EXACT [] synonym: "Alpha-1 antitrypsin deficiency" RELATED [GARD:0005784] synonym: "ALPHA-1-antitrypsin deficiency" RELATED [OMIM:613490] synonym: "alpha-1-antitrypsin deficiency" RELATED [OMIM:613490] synonym: "deficiency in Alpa-1-proteinase inhibitor" EXACT [Orphanet:60] synonym: "emphysema due to AAT deficiency" EXACT [OMIM:613490, OMIM:genemap2] synonym: "emphysema-cirrhosis, due to AAT deficiency" EXACT [OMIM:613490, OMIM:genemap2] synonym: "hemorrhagic diathesis due to antithrombin pittsburgh" EXACT [OMIM:613490, OMIM:genemap2] xref: DOID:13372 {source="MONDO:equivalentTo"} xref: ICD10CM:E88.01 {source="DOID:13372", source="MONDO:equivalentTo"} xref: ICD9:273.4 {source="DOID:13372", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10001806 {source="Orphanet:60/e", source="Orphanet:60"} xref: MESH:D019896 {source="Orphanet:60/e", source="DOID:13372", source="MONDO:equivalentTo", source="Orphanet:60"} xref: NCIT:C84397 {source="DOID:13372", source="MONDO:equivalentTo"} xref: OMIM:613490 {source="Orphanet:60/e", source="DOID:13372", source="MONDO:equivalentTo", source="Orphanet:60"} xref: Orphanet:60 {source="MONDO:equivalentTo", source="OMIM:613490"} xref: SCTID:30188007 {source="DOID:13372", source="MONDO:equivalentTo"} xref: UMLS:C0221757 {source="Orphanet:60/e", source="DOID:13372", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C84397", source="OMIM:613490", source="Orphanet:60"} is_a: EFO:0000684 {source="MONDO:Redundant", source="Orphanet:60"} ! respiratory system disease is_a: MONDO:0002254 {source="NCIT:C84397"} ! syndromic disease is_a: MONDO:0002273 {source="DOID:13372"} ! plasma protein metabolism disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115", source="MONDO:0015510"} ! rare property_value: closeMatch http://identifiers.org/meddra/10001806 property_value: exactMatch DOID:13372 property_value: exactMatch http://identifiers.org/mesh/D019896 property_value: exactMatch http://identifiers.org/snomedct/30188007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221757 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E88.01 property_value: exactMatch https://omim.org/entry/613490 property_value: exactMatch NCIT:C84397 property_value: exactMatch Orphanet:60 property_value: excluded_subClassOf MONDO:0019743 {source="Orphanet:60"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5784/alpha-1-antitrypsin-deficiency xsd:anyURI {source="GARD:0005784"} [Term] id: MONDO:0013284 name: immunodeficiency, common variable, 4 synonym: "antibody deficiency due to Baffr defect" RELATED [OMIM:613494] synonym: "CVID4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613494] synonym: "immunodeficiency, common variable, 4" EXACT [MONDO:Lexical, OMIM:613494] synonym: "immunodeficiency, common variable, type 4" EXACT [MONDORULE:1, OMIM:613494] xref: DOID:0081147 {source="MONDO:equivalentTo"} xref: OMIM:613494 {source="MONDO:equivalentTo"} xref: UMLS:C3150739 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613494"} is_a: MONDO:0015517 {source="DC-OMIM:613494", source="OMIM:613494"} ! common variable immunodeficiency property_value: exactMatch DOID:0081147 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150739 property_value: exactMatch https://omim.org/entry/613494 [Term] id: MONDO:0013286 name: immunodeficiency, common variable, 6 def: "Any common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene." [MONDO:patterns/disease_series_by_gene] synonym: "antibody deficiency due to CD81 defect" RELATED [OMIM:613496] synonym: "CD81 common variable immunodeficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "common variable immunodeficiency caused by mutation in CD81" EXACT [MONDO:design_pattern] synonym: "CVID6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613496] synonym: "immunodeficiency, common variable, 6" EXACT [MONDO:Lexical, OMIM:613496] synonym: "immunodeficiency, common variable, type 6" EXACT [MONDORULE:1, OMIM:613496] xref: DOID:0081149 {source="MONDO:equivalentTo"} xref: OMIM:613496 {source="MONDO:equivalentTo"} xref: UMLS:C3150741 {source="OMIM:613496", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015517 {source="DC-OMIM:613496", source="MONDO:Redundant", source="OMIM:613496"} ! common variable immunodeficiency property_value: exactMatch DOID:0081149 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150741 property_value: exactMatch https://omim.org/entry/613496 [Term] id: MONDO:0013291 name: glycogen storage disease XV def: "Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle." [Orphanet:263297] subset: ordo_disease {source="Orphanet:263297"} synonym: "glycogen storage disease 15" RELATED [OMIM:613507] synonym: "glycogen storage disease type 15" EXACT [MONDORULE:2, OMIM:613507, Orphanet:263297] synonym: "glycogen storage disease type XV" EXACT [DOID:0050579, MONDORULE:3, Orphanet:263297] synonym: "glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency" RELATED [Orphanet:263297] synonym: "glycogen storage disease XV" EXACT [MONDO:Lexical, OMIM:613507] synonym: "glycogenin deficiency" RELATED [OMIM:613507] synonym: "glycogenosis type 15" EXACT [Orphanet:263297] synonym: "glycogenosis type XV" EXACT [Orphanet:263297] synonym: "glycogenosis with severe cardiomyopathy due to glycogenin deficiency" EXACT [Orphanet:263297] synonym: "GSD 15" RELATED [OMIM:613507] synonym: "GSD type 15" EXACT [Orphanet:263297] synonym: "GSD type XV" EXACT [Orphanet:263297] synonym: "GSD with severe cardiomyopathy due to glycogenin deficiency" EXACT [Orphanet:263297] synonym: "GSD15" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613507] synonym: "Gyg1 deficiency" RELATED [OMIM:613507] xref: DOID:0050579 {source="MONDO:equivalentTo"} xref: OMIM:613507 {source="Orphanet:263297", source="DOID:0050579", source="MONDO:equivalentTo", source="Orphanet:263297/e"} xref: Orphanet:263297 {source="MONDO:equivalentTo", source="OMIM:613507"} xref: SCTID:717821004 {source="MONDO:equivalentTo"} xref: UMLS:C3150754 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613507"} is_a: MONDO:0100314 {source="https://clinicalgenome.org/affiliation/40097/"} ! GYG1-related disorder of glycogen metabolism property_value: exactMatch DOID:0050579 property_value: exactMatch http://identifiers.org/snomedct/717821004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150754 property_value: exactMatch https://omim.org/entry/613507 property_value: exactMatch Orphanet:263297 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6130 xsd:anyURI [Term] id: MONDO:0013292 name: chromosome 4q21 deletion syndrome def: "The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech." [Orphanet:238750] subset: ordo_malformation_syndrome {source="Orphanet:238750"} synonym: "4q21 microdeletion syndrome" EXACT [DOID:0060420] synonym: "chromosome 4q21 deletion syndrome" EXACT [OMIM:613509] synonym: "chromosome 4q21 deletion syndrome, isolated cases" EXACT [OMIM:613509, OMIM:genemap2] synonym: "Del(4)(q21)" EXACT [Orphanet:238750] synonym: "monosomy 4q21" EXACT [DOID:0060420, Orphanet:238750] xref: DOID:0060420 {source="MONDO:equivalentTo"} xref: OMIM:613509 {source="DOID:0060420", source="Orphanet:238750/e", source="MONDO:equivalentTo", source="Orphanet:238750"} xref: Orphanet:238750 {source="DOID:0060420", source="MONDO:equivalentTo", source="OMIM:613509"} xref: SCTID:719660008 {source="MONDO:equivalentTo"} xref: UMLS:C3150756 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613509"} xref: UMLS:C4304530 {source="MONDO:equivalentTo"} is_a: MONDO:0016903 {source="Orphanet:238750"} ! partial deletion of the long arm of chromosome 4 property_value: exactMatch DOID:0060420 property_value: exactMatch http://identifiers.org/snomedct/719660008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150756 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304530 property_value: exactMatch https://omim.org/entry/613509 property_value: exactMatch Orphanet:238750 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013297 name: autosomal dominant limb-girdle muscular dystrophy type 1H def: "Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle." [Orphanet:238755] subset: ordo_disease {source="Orphanet:238755"} synonym: "LGMD1H" EXACT ABBREVIATION [DOID:0110303, MONDO:Lexical, OMIM:613530, Orphanet:238755] synonym: "limb-girdle muscular dystrophy type 1H" RELATED [GARD:0012532] synonym: "muscular dystrophy limb-girdle type 1H" EXACT [DOID:0110303] synonym: "muscular dystrophy, limb-girdle, type 1H" RELATED [MONDO:Lexical, OMIM:613530] xref: DOID:0110303 {source="MONDO:equivalentTo"} xref: OMIM:613530 {source="DOID:0110303", source="Orphanet:238755", source="MONDO:equivalentTo", source="Orphanet:238755/e"} xref: Orphanet:238755 {source="DOID:0110303", source="OMIM:613530", source="MONDO:equivalentTo"} xref: UMLS:C3150786 {source="OMIM:613530", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015151 {source="DOID:0110303", source="OMIM:613530", source="Orphanet:238755"} ! muscular dystrophy, limb-girdle, autosomal dominant property_value: exactMatch DOID:0110303 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150786 property_value: exactMatch https://omim.org/entry/613530 property_value: exactMatch Orphanet:238755 [Term] id: MONDO:0013298 name: chromosome 17q21.31 duplication syndrome def: "The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent." [Orphanet:217340] subset: ordo_malformation_syndrome {source="Orphanet:217340"} synonym: "17q21.31 microduplication syndrome" EXACT [DOID:0060434, Orphanet:217340] synonym: "chromosome 17q21.31 duplication syndrome" EXACT [OMIM:613533] synonym: "dup(17)(q21.31)" EXACT [Orphanet:217340] synonym: "trisomy 17q21.31" EXACT [DOID:0060434, Orphanet:217340] xref: DOID:0060434 {source="MONDO:equivalentTo"} xref: OMIM:613533 {source="MONDO:equivalentTo", source="DOID:0060434", source="Orphanet:217340", source="Orphanet:217340/e"} xref: Orphanet:217340 {source="OMIM:613533", source="MONDO:equivalentTo", source="DOID:0060434"} xref: SCTID:716683005 {source="MONDO:equivalentTo"} xref: UMLS:C3150787 {source="OMIM:613533", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4274345 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:217340"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0016967 {source="Orphanet:217340"} ! partial duplication of the long arm of chromosome 17 property_value: exactMatch DOID:0060434 property_value: exactMatch http://identifiers.org/snomedct/716683005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150787 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274345 property_value: exactMatch https://omim.org/entry/613533 property_value: exactMatch Orphanet:217340 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:217340"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0013300 name: commissural facial cleft def: "Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed)" [MESH:D008265] subset: ordo_morphological_anomaly {source="Orphanet:141276"} synonym: "commissural cleft, isolated" RELATED [OMIM:613545] synonym: "lateral cleft, isolated" RELATED [OMIM:613545] synonym: "macrostomia" EXACT [Orphanet:141276] synonym: "macrostomia, isolated" RELATED [OMIM:613545] synonym: "transverse cleft, isolated" RELATED [OMIM:613545] xref: ICD9:744.83 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D008265 {source="MONDO:equivalentTo"} xref: OMIM:613545 {source="Orphanet:141276", source="MONDO:equivalentTo", source="Orphanet:141276/e"} xref: Orphanet:141276 {source="OMIM:613545", source="MONDO:equivalentTo"} xref: SCTID:40159009 {source="MONDO:equivalentTo"} is_a: MONDO:0015418 {source="Orphanet:141276"} ! lateral facial cleft property_value: exactMatch http://identifiers.org/mesh/D008265 property_value: exactMatch http://identifiers.org/snomedct/40159009 property_value: exactMatch https://omim.org/entry/613545 property_value: exactMatch Orphanet:141276 [Term] id: MONDO:0013301 name: aromatase deficiency def: "Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." [Orphanet:91] subset: gard_rare {source="GARD:0000365"} subset: ordo_disease {source="Orphanet:91"} synonym: "aromatase deficiency" EXACT [OMIM:613546] synonym: "congenital estrogen deficiency" EXACT [Orphanet:91] synonym: "congenital oestrogen deficiency" EXACT OMO:0003005 [] synonym: "pseudohermaphroditism, female, due to placental aromatase deficiency" RELATED [OMIM:613546] xref: MESH:C537436 {source="Orphanet:91/e", source="MONDO:equivalentTo", source="Orphanet:91"} xref: NCIT:C120144 {source="MONDO:equivalentTo"} xref: OMIM:613546 {source="Orphanet:91/e", source="MONDO:equivalentTo", source="Orphanet:91"} xref: Orphanet:91 {source="MONDO:equivalentTo", source="OMIM:613546"} xref: UMLS:C1960539 {source="MONDO:equivalentTo", source="OMIM:613546", source="Orphanet:91"} is_a: EFO:0009682 {source="Orphanet:91"} ! pregnancy disorder is_a: MONDO:0019852 {source="Orphanet:91"} ! inherited primary ovarian failure property_value: exactMatch http://identifiers.org/mesh/C537436 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1960539 property_value: exactMatch https://omim.org/entry/613546 property_value: exactMatch NCIT:C120144 property_value: exactMatch Orphanet:91 property_value: excluded_subClassOf MONDO:0957024 {source="Orphanet:91"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/365/aromatase-deficiency xsd:anyURI {source="GARD:0000365"} [Term] id: MONDO:0013302 name: nephronophthisis 11 def: "A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1." [DOID:0111118, PMID:19508969] synonym: "nephronophthisis 11" EXACT [MONDO:Lexical, OMIM:613550] synonym: "nephronophthisis type 11" EXACT [DOID:0111118, MONDORULE:2, OMIM:613550] synonym: "NPHP11" EXACT ABBREVIATION [DOID:0111118, MONDO:Lexical, OMIM:613550] xref: DOID:0111118 {source="MONDO:equivalentTo"} xref: OMIM:613550 {source="DOID:0111118", source="MONDO:equivalentTo"} xref: UMLS:C3150796 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613550"} is_a: MONDO:0019005 {source="DC-OMIM:613550", source="DOID:0111118", source="MONDO:Redundant", source="OMIM:613550"} ! nephronophthisis is_a: MONDO:0019394 {source="MONDO:Redundant", source="Orphanet:84081/btnt"} ! Senior-Boichis syndrome property_value: exactMatch DOID:0111118 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150796 property_value: exactMatch https://omim.org/entry/613550 [Term] id: MONDO:0013304 name: von Willebrand disease 2 def: "Type 2 von Willebrand disease (type 2 VWD) is a form of VWD characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF)." [Orphanet:166081] subset: ordo_clinical_subtype {source="Orphanet:166081"} synonym: "von Willebrand disease 2" EXACT [] synonym: "von Willebrand disease type 2" EXACT [DOID:0060574] synonym: "von Willebrand disease type II" EXACT [DOID:0060574] synonym: "VON WILLEBRAND disease, type 2" RELATED [MONDO:Lexical, OMIM:613554] synonym: "Von Willebrand disease, type 2" RELATED [OMIM:613554] synonym: "Von Willebrand disease, type 2A" RELATED [OMIM:613554] synonym: "Von Willebrand disease, type 2B" RELATED [OMIM:613554] synonym: "Von Willebrand disease, type 2M" RELATED [OMIM:613554] synonym: "Von Willebrand disease, type 2N" RELATED [OMIM:613554] synonym: "von Willebrand disease, types 2A, 2B, 2M, and 2N" EXACT [OMIM:613554, OMIM:genemap2] synonym: "von willebrand's disease 2" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] synonym: "von Willebrand's disease type 2" EXACT [DOID:0060574, MONDORULE:1] synonym: "VWD type 2" EXACT [DOID:0060574] synonym: "VWD, type 2" RELATED [OMIM:613554] synonym: "VWD2" EXACT ABBREVIATION [DOID:0060574, MONDO:Lexical, OMIM:613554] xref: DOID:0060574 {source="MONDO:equivalentTo"} xref: MESH:D056728 {source="Orphanet:166081/e", source="DOID:0060574", source="MONDO:equivalentTo", source="Orphanet:166081"} xref: OMIM:613554 {source="Orphanet:166081/e", source="DOID:0060574", source="MONDO:equivalentTo", source="Orphanet:166081"} xref: Orphanet:166081 {source="DOID:0060574", source="OMIM:613554", source="MONDO:equivalentTo"} xref: SCTID:128107007 {source="MONDO:equivalentTo"} xref: UMLS:C1264040 {source="Orphanet:166081/e", source="DOID:0060574", source="OMIM:613554", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:166081"} is_a: MONDO:0019565 {source="DC-OMIM:613554", source="DOID:0060574", source="Orphanet:166081"} ! hereditary von Willebrand disease property_value: exactMatch DOID:0060574 property_value: exactMatch http://identifiers.org/mesh/D056728 property_value: exactMatch http://identifiers.org/snomedct/128107007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1264040 property_value: exactMatch https://omim.org/entry/613554 property_value: exactMatch Orphanet:166081 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013306 name: combined oxidative phosphorylation defect type 7 def: "Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life." [Orphanet:254930] subset: ordo_disease {source="Orphanet:254930"} synonym: "C12ORF65 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern] synonym: "C12orf65 combined oxidative phosphorylation deficiency" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "combined oxidative phosphorylation deficiency 7" RELATED [MONDO:Lexical, OMIM:613559] synonym: "combined oxidative phosphorylation deficiency caused by mutation in C12ORF65" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency caused by mutation in C12orf65" EXACT [] synonym: "combined oxidative phosphorylation deficiency type 7" EXACT [MONDORULE:1, OMIM:613559] synonym: "COXPD7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613559, Orphanet:254930] synonym: "severe C12ORF65-related combined oxidative phosphorylation defect" EXACT [Orphanet:254930] synonym: "severe C12ORF65-related COXPD" EXACT [Orphanet:254930] xref: DOID:0111487 {source="MONDO:equivalentTo"} xref: OMIM:613559 {source="MONDO:equivalentTo", source="Orphanet:254930", source="Orphanet:254930/e"} xref: Orphanet:254930 {source="MONDO:equivalentTo", source="OMIM:613559"} xref: SCTID:763204003 {source="MONDO:equivalentTo"} xref: UMLS:C3150801 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613559"} is_a: MONDO:0000732 {source="DC-OMIM:613559", source="MONDO:Redundant", source="OMIM:613559"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0044655 ! c12orf65-related combined oxidative phosphorylation defect property_value: exactMatch DOID:0111487 property_value: exactMatch http://identifiers.org/snomedct/763204003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150801 property_value: exactMatch https://omim.org/entry/613559 property_value: exactMatch Orphanet:254930 [Term] id: MONDO:0013308 name: CBL-related disorder def: "CBL-related disorder is a genetic condition caused by pathogenic variants in the Cbl ubiquitin ligase gene, (CBL; HGNC:1541). Due to the proposed mechanism indicating the CBL gene's relationship to the RAS-MAPK pathway and the phenotypic presentation similar to that of the RASopathies, CBL-related disorder should be considered a RASopathy disorder. Though there is a wide spectrum of phenotypic variability, broadly, patients with CBL-related disorder have presented with developmental delay, intellectual disability, neurodevelopmental alterations, prenatal lymphatic anomalies, cardiac malformations as well as vascular anomalies particularly affecting the brain (e.g. Moya-moya arteriopathies), craniofacial features indicative of a RASopathy, hypotonia, feeding difficulties, edema of the legs, musculoskeletal and respiratory thorax abnormalities, ectodermal features including cafe-au-lait spots, immunological and hematological disorders and susceptibility to tumors diagnosed as juvenile myelomonocytic leukemia (JMML) that is usually self-remitting. Note tumor risk beyond JMML has not yet been thoroughly assessed. Due to the clinical presentation of a broad spectrum of these and other phenotypes in patients with variants in CBL, these conditions are currently defined by experts in reference to the causal gene, CBL." [PMID:20619386, PMID:21901340, PMID:24458550, PMID:25283271, PMID:25358541, PMID:25952305, PMID:26911351, PMID:28343148, PMID:28414188, PMID:28589114, PMID:29259247] subset: ordo_malformation_syndrome {source="Orphanet:363972"} synonym: "Cbl mutation-associated syndrome" RELATED [OMIM:613563] synonym: "Cbl syndrome" EXACT [OMIM:613563, Orphanet:363972] synonym: "CBL-related disorder" EXACT [] synonym: "Noonan syndrome-like disorder with JMML" EXACT [Orphanet:363972] synonym: "Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia" EXACT OMO:0003005 [] synonym: "Noonan syndrome-like disorder with juvenile myelomonocytic leukemia" EXACT [] synonym: "Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia" RELATED OMO:0003005 [] synonym: "Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia" RELATED [MONDO:Lexical, OMIM:613563] synonym: "Noonan-like syndrome" EXACT [] synonym: "NSLL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613563] xref: OMIM:613563 {source="MONDO:equivalentTo", source="Orphanet:363972", source="Orphanet:363972/e"} xref: Orphanet:363972 {source="OMIM:613563", source="MONDO:equivalentTo"} xref: UMLS:C3150803 {source="OMIM:613563", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4016301 {source="MONDO:equivalentTo"} is_a: EFO:1001502 {source="https://www.clinicalgenome.org/affiliation/40021/"} ! rasopathy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150803 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4016301 property_value: exactMatch https://omim.org/entry/613563 property_value: exactMatch Orphanet:363972 [Term] id: MONDO:0013310 name: congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency def: "Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." [Orphanet:95699] subset: gard_rare {source="GARD:0012664"} subset: ordo_disease {source="Orphanet:95699"} synonym: "adrenal hyperplasia, congenital, due to cytochrome P450 oxidoreductase deficiency" RELATED [OMIM:613571] synonym: "congenital adrenal hyperplasia due to cytochrome POR deficiency" EXACT [Orphanet:95699] synonym: "disordered steroidogenesis due to cytochrome P450 oxidoreductase" RELATED [GARD:0012664] synonym: "disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency" RELATED [OMIM:613571] synonym: "disordered steroidogenesis due to POR deficiency" RELATED [OMIM:613571] synonym: "POR deficiency" EXACT [Orphanet:95699] synonym: "PORD" EXACT ABBREVIATION [Orphanet:95699] xref: DOID:0080925 {source="MONDO:equivalentTo"} xref: NCIT:C174439 {source="MONDO:equivalentTo"} xref: OMIM:613571 {source="MONDO:equivalentTo", source="Orphanet:95699", source="Orphanet:95699/e"} xref: Orphanet:95699 {source="MONDO:equivalentTo", source="OMIM:613571"} xref: SCTID:715733000 {source="MONDO:equivalentTo"} is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0017969 ! 46,XY disorder of sex development of endocrine origin is_a: MONDO:0018479 {source="Orphanet:95699"} ! congenital adrenal hyperplasia is_a: MONDO:0019593 {source="Orphanet:95699"} ! 46,XX disorder of sex development induced by fetal androgens excess is_a: MONDO:0957024 ! hereditary 46,XX disorder of sex development is_a: MONDO:0957025 ! hereditary 46,XY disorder of sex development relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch DOID:0080925 property_value: exactMatch http://identifiers.org/snomedct/715733000 property_value: exactMatch https://omim.org/entry/613571 property_value: exactMatch NCIT:C174439 property_value: exactMatch Orphanet:95699 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12664/congenital-adrenal-hyperplasia-due-to-cytochrome-p450-oxidoreductase-deficiency xsd:anyURI {source="GARD:0012664"} [Term] id: MONDO:0013311 name: ectodermal dysplasia-syndactyly syndrome def: "Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet." [Orphanet:247820] subset: ordo_malformation_syndrome {source="Orphanet:247820"} subset: prototype_pattern synonym: "ectodermal dysplasia-syndactyly syndrome 1" RELATED [MONDO:Lexical, OMIM:613573] synonym: "ectodermal dysplasia-syndactyly syndrome type 1" EXACT [MONDORULE:1, OMIM:613573] synonym: "EDSS" EXACT ABBREVIATION [Orphanet:247820] synonym: "EDSS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613573, Orphanet:247820] xref: OMIMPS:613573 {source="MONDO:equivalentTo"} xref: Orphanet:247820 {source="OMIM:613573", source="MONDO:equivalentTo"} xref: UMLS:CN228599 {source="MONDO:equivalentTo"} is_a: MONDO:0019287 {source="OMIM:613573", source="Orphanet:247820"} ! ectodermal dysplasia syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN228599 property_value: exactMatch https://omim.org/phenotypicSeries/PS613573 property_value: exactMatch Orphanet:247820 [Term] id: MONDO:0013313 name: ectodermal dysplasia-cutaneous syndactyly syndrome subset: ordo_malformation_syndrome {source="Orphanet:247827"} synonym: "ectodermal dysplasia-syndactyly syndrome 2" RELATED [MONDO:Lexical, OMIM:613576] synonym: "EDCS" EXACT ABBREVIATION [Orphanet:247827] synonym: "EDSS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613576, Orphanet:247827] xref: OMIM:613576 {source="Orphanet:247827/e", source="MONDO:equivalentTo", source="Orphanet:247827"} xref: Orphanet:247827 {source="OMIM:613576", source="MONDO:equivalentTo"} xref: UMLS:C3150809 {source="OMIM:613576", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0013311 {source="DC-OMIM:613576", source="OMIM:613576"} ! ectodermal dysplasia-syndactyly syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150809 property_value: exactMatch https://omim.org/entry/613576 property_value: exactMatch Orphanet:247827 [Term] id: MONDO:0013316 name: occult macular dystrophy def: "Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms." [Orphanet:247834] subset: ordo_disease {source="Orphanet:247834"} synonym: "occult macular dystrophy" EXACT [MONDO:Lexical, OMIM:613587] synonym: "OCMD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613587, Orphanet:247834] synonym: "OMD" EXACT ABBREVIATION [Orphanet:247834] synonym: "Omd" RELATED [OMIM:613587] xref: DOID:0050578 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:247834", source="Orphanet:247834/attributed", source="Orphanet:247834/ntbt"} xref: OMIM:613587 {source="MONDO:equivalentTo", source="DOID:0050578", source="Orphanet:247834", source="Orphanet:247834/e"} xref: Orphanet:247834 {source="OMIM:613587", source="MONDO:equivalentTo"} xref: UMLS:C3150833 {source="OMIM:613587", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0009606 {source="DOID:0050578", source="OMIM:613587"} ! macular degeneration is_a: MONDO:0020242 {source="Orphanet:247834"} ! hereditary macular dystrophy property_value: exactMatch DOID:0050578 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150833 property_value: exactMatch https://omim.org/entry/613587 property_value: exactMatch Orphanet:247834 [Term] id: MONDO:0013317 name: torsade-de-pointes syndrome with short coupling interval def: "Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death." [Orphanet:51084] subset: ordo_disease {source="Orphanet:51084"} synonym: "torsade DE pointes, short-coupled variant" RELATED [OMIM:613600] xref: OMIM:613600 {source="Orphanet:51084/e", source="MONDO:equivalentTo", source="Orphanet:51084"} xref: Orphanet:51084 {source="OMIM:613600", source="MONDO:equivalentTo"} xref: SCTID:718104007 {source="MONDO:equivalentTo"} xref: UMLS:C3150851 {source="OMIM:613600", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0007263 {source="https://orcid.org/0000-0001-5208-3432"} ! cardiac rhythm disease property_value: exactMatch http://identifiers.org/snomedct/718104007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150851 property_value: exactMatch https://omim.org/entry/613600 property_value: exactMatch Orphanet:51084 [Term] id: MONDO:0013320 name: chromosome 16p12.2-p11.2 deletion syndrome def: "16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." [Orphanet:261211] subset: ordo_malformation_syndrome {source="Orphanet:261211"} synonym: "16p11.2-p12.2 microdeletion syndrome" EXACT [DECIPHER:68, DOID:0060400, Orphanet:261211] synonym: "16p11.2p12.2 microdeletion syndrome" EXACT [DOID:0060400] synonym: "chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-MB" RELATED [OMIM:613604] synonym: "chromosome 16p12.2-p11.2 deletion syndrome, isolated cases" EXACT [OMIM:613604, OMIM:genemap2] synonym: "Del(16)(p11.2p12.2)" EXACT [Orphanet:261211] synonym: "monosomy 16p11.2-p12.2" EXACT [Orphanet:261211] synonym: "monosomy 16p11.2p12.2" EXACT [Orphanet:261211] xref: DECIPHER:68 {source="https://orcid.org/0009-0001-6494-4831", source="MONDO:equivalentTo"} xref: DOID:0060400 {source="MONDO:equivalentTo"} xref: OMIM:613604 {source="DOID:0060400", source="MONDO:equivalentTo", source="Orphanet:261211", source="Orphanet:261211/e"} xref: Orphanet:261211 {source="DOID:0060400", source="MONDO:equivalentTo", source="OMIM:613604"} xref: SCTID:719576009 {source="MONDO:equivalentTo"} xref: UMLS:C3150858 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613604"} xref: UMLS:C4304597 {source="MONDO:equivalentTo"} is_a: MONDO:0016894 {source="Orphanet:261211"} ! partial deletion of the short arm of chromosome 16 property_value: exactMatch DOID:0060400 property_value: exactMatch http://identifiers.org/snomedct/719576009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150858 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304597 property_value: exactMatch https://omim.org/entry/613604 property_value: exactMatch Orphanet:261211 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6311 xsd:anyURI [Term] id: MONDO:0013324 name: lymphedema-posterior choanal atresia syndrome subset: ordo_malformation_syndrome {source="Orphanet:99141"} synonym: "CATLPH" RELATED ABBREVIATION [OMIM:613611] synonym: "choanal atresia and lymphedema" RELATED [OMIM:613611] xref: ICD10CM:Q82.0 {source="Orphanet:99141/ntbt", source="Orphanet:99141", source="MONDO:directSiblingOf"} xref: OMIM:613611 {source="Orphanet:99141/e", source="MONDO:equivalentTo", source="Orphanet:99141"} xref: Orphanet:99141 {source="MONDO:equivalentTo"} xref: UMLS:C3150875 {source="OMIM:613611", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0005950 ! head and neck neoplasia is_a: MONDO:0002013 {source="Orphanet:99141"} ! lymphangioma is_a: MONDO:0015503 {source="Orphanet:99141"} ! nose and cavum anomaly is_a: MONDO:0016229 {source="MONDO:Redundant", source="Orphanet:99141"} ! hereditary vascular anomaly is_a: MONDO:0018562 {source="Orphanet:99141", source="Orphanet:99141/inferred"} ! hereditary otorhinolaryngological malformation property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150875 property_value: exactMatch https://omim.org/entry/613611 property_value: exactMatch Orphanet:99141 [Term] id: MONDO:0013325 name: COG5-congenital disorder of glycosylation def: "COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia." [Orphanet:263487] subset: gard_rare subset: ordo_disease {source="Orphanet:263487"} synonym: "carbohydrate deficient glycoprotein syndrome type III" EXACT [Orphanet:263487] synonym: "CDG III" RELATED [OMIM:613612] synonym: "CDG syndrome type 3" RELATED [GARD:0001173] synonym: "CDG syndrome type III" EXACT [Orphanet:263487] synonym: "CDG-III" EXACT [Orphanet:263487] synonym: "CDG2I" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613612, Orphanet:263487] synonym: "COG5-CDG" EXACT ABBREVIATION [Orphanet:263487] synonym: "COG5-CDG (CDG-III)" RELATED [GARD:0012348] synonym: "COG5-congenital disorder of glycosylation" EXACT [] synonym: "congenital disorder of glycosylation type 2i" EXACT [Orphanet:263487] synonym: "congenital disorder of glycosylation type III" EXACT [Orphanet:263487] synonym: "congenital disorder of glycosylation, type III" RELATED [MONDO:Lexical, OMIM:613612] xref: DOID:0070261 {source="MONDO:equivalentTo"} xref: OMIM:613612 {source="MONDO:equivalentTo", source="Orphanet:263487", source="Orphanet:263487/e"} xref: Orphanet:263487 {source="MONDO:equivalentTo", source="OMIM:613612"} xref: SCTID:721100009 {source="MONDO:equivalentTo"} xref: UMLS:C3150876 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613612"} is_a: EFO:0005546 {source="DC-OMIM:613612", source="OMIM:613612"} ! congenital disorder of glycosylation type II is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDO:indirect"} ! syndromic disease is_a: MONDO:0017750 {source="Orphanet:263487"} ! defect in conserved oligomeric Golgi complex property_value: exactMatch DOID:0070261 property_value: exactMatch http://identifiers.org/snomedct/721100009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150876 property_value: exactMatch https://omim.org/entry/613612 property_value: exactMatch Orphanet:263487 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1173/cdg-syndrome-type-3 xsd:anyURI {source="GARD:0001173"} [Term] id: MONDO:0013327 name: primary hyperoxaluria type 3 def: "Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis." [Orphanet:93600] subset: gard_rare {source="GARD:0010738"} subset: ordo_clinical_subtype {source="Orphanet:93600"} synonym: "HOGA1 primary hyperoxaluria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "HP3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613616] synonym: "hyperoxaluria, primary, type 3" RELATED [OMIM:613616] synonym: "hyperoxaluria, primary, type III" RELATED [MONDO:Lexical, OMIM:613616] synonym: "PH III" RELATED [GARD:0010738] synonym: "primary hyperoxaluria caused by mutation in HOGA1" EXACT [MONDO:design_pattern] synonym: "primary hyperoxaluria type III" EXACT [NCIT:C123214] xref: DOID:0111672 {source="MONDO:equivalentTo"} xref: NCIT:C123214 {source="MONDO:equivalentTo"} xref: OMIM:613616 {source="MONDO:equivalentTo", source="Orphanet:93600", source="Orphanet:93600/e"} xref: Orphanet:93600 {source="MONDO:equivalentTo", source="OMIM:613616"} xref: SCTID:734990008 {source="MONDO:equivalentTo"} xref: UMLS:C3150878 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C123214", source="OMIM:613616"} is_a: MONDO:0002474 {source="DC-OMIM:613616", source="MONDO:Redundant", source="NCIT:C123214", source="OMIM:613616", source="Orphanet:93600"} ! primary hyperoxaluria property_value: exactMatch DOID:0111672 property_value: exactMatch http://identifiers.org/snomedct/734990008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150878 property_value: exactMatch https://omim.org/entry/613616 property_value: exactMatch NCIT:C123214 property_value: exactMatch Orphanet:93600 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10738/primary-hyperoxaluria-type-3 xsd:anyURI {source="GARD:0010738"} [Term] id: MONDO:0013329 name: familial clubfoot due to 17q23.1q23.2 microduplication def: "17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot." [Orphanet:238578] subset: ordo_etiological_subtype {source="Orphanet:238578"} synonym: "chromosome 17q23.1-q23.2 DUPLICATION syndrome" RELATED [OMIM:613618] synonym: "hereditary clubfoot due to 17q23.1-q23.2 microduplication" EXACT [Orphanet:238578] xref: OMIM:613618 {source="Orphanet:238578", source="MONDO:equivalentTo", source="Orphanet:238578/e"} xref: Orphanet:238578 {source="MONDO:equivalentTo", source="OMIM:613618"} xref: UMLS:C3150880 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613618"} is_a: MONDO:0016046 {source="Orphanet:238578"} ! familial clubfoot with or without associated lower limb anomalies is_a: MONDO:0016967 {source="Orphanet:238578"} ! partial duplication of the long arm of chromosome 17 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150880 property_value: exactMatch https://omim.org/entry/613618 property_value: exactMatch Orphanet:238578 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI [Term] id: MONDO:0013334 name: cocoon syndrome def: "Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported." [Orphanet:465824] subset: ordo_malformation_syndrome {source="Orphanet:465824"} synonym: "cocoon syndrome" EXACT [OMIM:613630] synonym: "fetal encasement syndrome" EXACT [DOID:0060647, OMIM:613630] synonym: "foetal encasement syndrome" EXACT OMO:0003005 [] xref: DOID:0060647 {source="MONDO:equivalentTo"} xref: OMIM:613630 {source="MONDO:equivalentTo", source="Orphanet:465824", source="DOID:0060647", source="Orphanet:465824/e"} xref: Orphanet:465824 {source="MONDO:equivalentTo"} xref: UMLS:C3150891 {source="OMIM:613630", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019054 {source="MONDO:0015226-obsoleted"} ! congenital limb malformation relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch DOID:0060647 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150891 property_value: exactMatch https://omim.org/entry/613630 property_value: exactMatch Orphanet:465824 [Term] id: MONDO:0013336 name: chromosome 19p13.13 deletion syndrome def: "19p13.13 microdeletion syndrome is a rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation)." [Orphanet:357001] subset: ordo_malformation_syndrome {source="Orphanet:357001"} synonym: "19p13.13 microdeletion syndrome" RELATED [Orphanet:357001] synonym: "chromosome 19p13.13 deletion syndrome" EXACT [OMIM:613638] synonym: "chromosome 19P13.13 Duplication syndrome" RELATED [OMIM:613638] synonym: "Del(19)(p13.13)" EXACT [Orphanet:357001] synonym: "monosomy 19p13.13" EXACT [Orphanet:357001] xref: DOID:0060426 {source="MONDO:equivalentTo"} xref: OMIM:613638 {source="Orphanet:357001/e", source="MONDO:equivalentTo", source="DOID:0060426", source="Orphanet:357001"} xref: Orphanet:357001 {source="MONDO:equivalentTo"} xref: SCTID:764440006 {source="MONDO:equivalentTo"} xref: UMLS:C3150894 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613638"} xref: UMLS:CN204595 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:357001"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0016897 {source="Orphanet:357001"} ! partial deletion of the short arm of chromosome 19 property_value: exactMatch DOID:0060426 property_value: exactMatch http://identifiers.org/snomedct/764440006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150894 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204595 property_value: exactMatch https://omim.org/entry/613638 property_value: exactMatch Orphanet:357001 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:357001"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0013338 name: Charcot-Marie-Tooth disease recessive intermediate B def: "Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology." [Orphanet:254334] subset: ordo_disease {source="Orphanet:254334"} synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type B" EXACT [DOID:0110204] synonym: "Charcot-Marie-Tooth disease caused by mutation in KARS" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease recessive intermediate type B" EXACT [DOID:0110204, MONDORULE:1] synonym: "Charcot-Marie-Tooth disease, recessive intermediate B" RELATED [MONDO:Lexical, OMIM:613641] synonym: "Charcot-Marie-Tooth disease, recessive Intermediate type B" EXACT [MONDORULE:1, OMIM:613641] synonym: "Charcot-Marie-Tooth disease, recessive intermediate, B" RELATED [GARD:0012454] synonym: "Charcot-Marie-Tooth neuropathy recessive intermediate B" EXACT [DOID:0110204] synonym: "Charcot-Marie-Tooth neuropathy, recessive Intermediate B" RELATED [OMIM:613641] synonym: "CMTRIB" EXACT ABBREVIATION [DOID:0110204, MONDO:Lexical, OMIM:613641] synonym: "KARS Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "RI-CMT type B" EXACT [Orphanet:254334] synonym: "RI-CMTB" EXACT [DOID:0110204] xref: DOID:0110204 {source="MONDO:equivalentTo"} xref: OMIM:613641 {source="DOID:0110204", source="Orphanet:254334", source="MONDO:equivalentTo", source="Orphanet:254334/e"} xref: Orphanet:254334 {source="DOID:0110204", source="OMIM:613641", source="MONDO:equivalentTo"} xref: UMLS:C3150897 {source="OMIM:613641", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0017058 {source="Orphanet:254334"} ! autosomal recessive intermediate Charcot-Marie-Tooth disease property_value: exactMatch DOID:0110204 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150897 property_value: exactMatch https://omim.org/entry/613641 property_value: exactMatch Orphanet:254334 [Term] id: MONDO:0013341 name: methylmalonic acidemia due to transcobalamin receptor defect def: "Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported." [Orphanet:280183] subset: ordo_biological_anomaly {source="Orphanet:280183"} synonym: "CD320 methylmalonic acidemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "methylmalonic acidemia caused by mutation in CD320" EXACT [MONDO:design_pattern] synonym: "methylmalonic acidemia, TCb1R type" EXACT [DOID:0060741, Orphanet:280183] synonym: "methylmalonic acidemia, TCbIR type" EXACT [DOID:0060741, Orphanet:280183] synonym: "methylmalonic acidemia, Tcblr type" RELATED [OMIM:613646] synonym: "methylmalonic aciduria due to transcobalamin receptor defect" EXACT [DOID:0060741, OMIM:613646] synonym: "methylmalonic aciduria, transient, due to transcobalamin receptor defect" RELATED [OMIM:613646] xref: DOID:0060741 {source="MONDO:equivalentTo"} xref: OMIM:613646 {source="DOID:0060741", source="Orphanet:280183", source="MONDO:equivalentTo", source="Orphanet:280183/e"} xref: Orphanet:280183 {source="DOID:0060741", source="MONDO:equivalentTo", source="OMIM:613646"} xref: UMLS:C3150900 {source="MONDO:equivalentTo", source="OMIM:613646", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0002012 {source="DC-OMIM:613646", source="DOID:0060741", source="MONDO:Entailed", source="MONDO:Redundant"} ! methylmalonic acidemia is_a: MONDO:0019220 {source="Orphanet:280183"} ! inborn disorder of cobalamin metabolism and transport property_value: exactMatch DOID:0060741 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150900 property_value: exactMatch https://omim.org/entry/613646 property_value: exactMatch Orphanet:280183 [Term] id: MONDO:0013342 name: hereditary spastic paraplegia 48 def: "Autosomal recessive spastic paraplegia type 48 (SPG48) is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported." [Orphanet:306511] subset: ordo_disease {source="Orphanet:306511"} synonym: "AP5Z1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive spastic paraplegia 48" EXACT [DOID:0110800] synonym: "autosomal recessive spastic paraplegia type 48" EXACT [DOID:0110800] synonym: "hereditary spastic paraplegia caused by mutation in AP5Z1" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 48" EXACT [DOID:0110800, MONDORULE:2] synonym: "spastic paraplegia 48, autosomal recessive" RELATED [MONDO:Lexical, OMIM:613647] synonym: "SPG48" EXACT ABBREVIATION [DOID:0110800, MONDO:Lexical, OMIM:613647, Orphanet:306511] xref: DOID:0110800 {source="MONDO:equivalentTo"} xref: OMIM:613647 {source="DOID:0110800", source="Orphanet:306511/e", source="MONDO:equivalentTo", source="Orphanet:306511"} xref: Orphanet:306511 {source="DOID:0110800", source="MONDO:equivalentTo", source="OMIM:613647"} xref: SCTID:763367009 {source="MONDO:equivalentTo"} xref: UMLS:C3150901 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613647"} is_a: MONDO:0002561 {source="Orphanet:306511"} ! lysosomal storage disease is_a: MONDO:0017915 {source="Orphanet:306511"} ! pure or complex autosomal recessive spastic paraplegia property_value: exactMatch DOID:0110800 property_value: exactMatch http://identifiers.org/snomedct/763367009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150901 property_value: exactMatch https://omim.org/entry/613647 property_value: exactMatch Orphanet:306511 [Term] id: MONDO:0013343 name: C1Q deficiency def: "C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a complex and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor." [https://rarediseases.info.nih.gov/diseases/12958/c1q-deficiency, PMID:29449492] subset: gard_rare {source="GARD:0012958"} synonym: "C1Q deficiency" EXACT [MONDO:Lexical, OMIM:613652] synonym: "C1q deficiency" EXACT [OMIM:613652] synonym: "C1QD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613652] xref: NCIT:C119990 {source="MONDO:equivalentTo"} xref: OMIM:613652 {source="MONDO:equivalentTo"} xref: UMLS:C3150902 {source="OMIM:613652", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C119990"} is_a: MONDO:0015699 {source="Orphanet:169147/btnt"} ! immunodeficiency due to a classical component pathway complement deficiency property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150902 property_value: exactMatch https://omim.org/entry/613652 property_value: exactMatch NCIT:C119990 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12958/c1q-deficiency xsd:anyURI {source="GARD:0012958"} [Term] id: MONDO:0013349 name: ALG11-congenital disorder of glycosylation def: "A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3)." [Orphanet:280071] subset: ordo_disease {source="Orphanet:280071"} synonym: "ALG11-CDG" EXACT ABBREVIATION [Orphanet:280071] synonym: "ALG11-CDG (CDG-Ip)" RELATED [GARD:0012396] synonym: "ALG11-congenital disorder of glycosylation" EXACT [] synonym: "carbohydrate deficient glycoprotein syndrome type Ip" EXACT [Orphanet:280071] synonym: "CDG syndrome type Ip" EXACT [Orphanet:280071] synonym: "CDG-Ip" EXACT [Orphanet:280071] synonym: "CDG1P" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613661, Orphanet:280071] synonym: "congenital disorder of glycosylation type 1p" EXACT [Orphanet:280071] synonym: "congenital disorder of glycosylation type Ip" EXACT [Orphanet:280071] synonym: "congenital disorder of glycosylation, type Ip" RELATED [MONDO:Lexical, OMIM:613661] xref: DOID:0080567 {source="MONDO:equivalentTo"} xref: OMIM:613661 {source="Orphanet:280071", source="MONDO:equivalentTo", source="Orphanet:280071/e"} xref: Orphanet:280071 {source="OMIM:613661", source="MONDO:equivalentTo"} xref: SCTID:733085004 {source="MONDO:equivalentTo"} xref: UMLS:C3150913 {source="OMIM:613661", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0005545 {source="DC-OMIM:613661"} ! congenital disorder of glycosylation type I is_a: MONDO:0017740 {source="Orphanet:280071"} ! disorder of protein N-glycosylation property_value: exactMatch DOID:0080567 property_value: exactMatch http://identifiers.org/snomedct/733085004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150913 property_value: exactMatch https://omim.org/entry/613661 property_value: exactMatch Orphanet:280071 [Term] id: MONDO:0013351 name: infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly def: "Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination." [Orphanet:402364] subset: ordo_malformation_syndrome {source="Orphanet:402364"} synonym: "microcephaly, postnatal progressive, with seizures and brain atrophy" RELATED [OMIM:613668] synonym: "postnatal progressive microcephaly, seizures, and brain atrophy" RELATED [GARD:0010995] xref: DOID:0111262 {source="MONDO:equivalentTo"} xref: OMIM:613668 {source="Orphanet:402364/e", source="MONDO:equivalentTo", source="Orphanet:402364"} xref: Orphanet:402364 {source="MONDO:equivalentTo", source="OMIM:613668"} xref: UMLS:C3150921 {source="MONDO:equivalentTo", source="OMIM:613668", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0009386 {source="https://orcid.org/0000-0001-5208-3432"} ! central nervous system disease property_value: exactMatch DOID:0111262 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150921 property_value: exactMatch https://omim.org/entry/613668 property_value: exactMatch Orphanet:402364 [Term] id: MONDO:0013352 name: intellectual disability-severe speech delay-mild dysmorphism syndrome def: "Intellectual disability-severe speech delay-mild dysmorphism syndrome, also known as intellectual disability with language impairment and with or without autistic features, is adisorder characterized by global developmental delay with moderate to severe speech delay thataffects expressive speech. Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting palpebral fissures, short nose with broad tip, head appearing too large for the body, frontal hair upsweep, and bulging digit pads anddelatyed gross motor skills. Some patients have autistic features and/or behavioral problems. Congenital malformations may be associated. All reported cases have occurred de novo (without any cases in the family). It is caused by alterations (mutations) in the caused by heterozygous mutation in the FOXP1 gene." [https://rarediseases.info.nih.gov/diseases/12501/intellectual-disability-severe-speech-delay-mild-dysmorphism-syndrome] subset: gard_rare {source="GARD:0012501"} subset: ordo_malformation_syndrome {source="Orphanet:391372"} synonym: "FOXP1 related global developmental delay, intellectual disability and speech defects" RELATED [GARD:0012501] synonym: "intellectual disability with language impairment and with or without autistic features" RELATED [GARD:0012501, OMIM:613670] synonym: "intellectual disability-severe speech delay-mild dysmorphism syndrome" EXACT [] synonym: "mental retardation with language impairment and with or without autistic features" RELATED DEPRECATED [OMIM:613670] xref: DOID:0111331 {source="MONDO:equivalentTo"} xref: EFO:1001500 {source="MONDO:equivalentTo"} xref: OMIM:613670 {source="Orphanet:391372", source="MONDO:equivalentTo", source="Orphanet:391372/e"} xref: Orphanet:391372 {source="MONDO:equivalentTo", source="OMIM:613670"} xref: UMLS:C3150923 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613670"} xref: UMLS:CN204965 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:391372", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: exactMatch DOID:0111331 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150923 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204965 property_value: exactMatch https://omim.org/entry/613670 property_value: exactMatch Orphanet:391372 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12501/intellectual-disability-severe-speech-delay-mild-dysmorphism-syndrome xsd:anyURI {source="GARD:0012501"} [Term] id: MONDO:0013354 name: spastic ataxia 4 def: "Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MTPAP gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:254343"} synonym: "autosomal recessive spastic ataxia - optic atrophy - dysarthria" RELATED [GARD:0010992] synonym: "autosomal recessive spastic ataxia 4" RELATED [GARD:0010992] synonym: "autosomal recessive spastic ataxia caused by mutation in MTPAP" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic ataxia type 4" EXACT [Orphanet:254343] synonym: "autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome" RELATED [Orphanet:254343] synonym: "MTPAP autosomal recessive spastic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "spastic ataxia 4, autosomal recessive" RELATED [MONDO:Lexical, OMIM:613672] synonym: "spastic ataxia type 4" EXACT [DOID:0050943, MONDORULE:1] synonym: "SPAX4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613672, Orphanet:254343] xref: DOID:0050943 {source="MONDO:equivalentTo"} xref: ICD10CM:G11.4 {source="Orphanet:254343", source="MONDO:relatedTo", source="Orphanet:254343/attributed", source="Orphanet:254343/ntbt"} xref: OMIM:613672 {source="Orphanet:254343", source="MONDO:equivalentTo", source="Orphanet:254343/e", source="DOID:0050943"} xref: Orphanet:254343 {source="OMIM:613672", source="MONDO:equivalentTo"} xref: UMLS:C3150925 {source="OMIM:613672", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:CN230090 {source="MONDO:equivalentTo"} is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0017847 {source="MONDO:Redundant", source="Orphanet:254343"} ! autosomal recessive spastic ataxia property_value: exactMatch DOID:0050943 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150925 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN230090 property_value: exactMatch https://omim.org/entry/613672 property_value: exactMatch Orphanet:254343 [Term] id: MONDO:0013355 name: congenital dyserythropoietic anemia type 4 def: "Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth." [Orphanet:293825] subset: ordo_disease {source="Orphanet:293825"} synonym: "anemia, congenital dyserythropoietic, type 4" RELATED [OMIM:613673] synonym: "anemia, congenital dyserythropoietic, type IV" RELATED [MONDO:Lexical, OMIM:613673] synonym: "CDA due to KLF1 mutation" EXACT [Orphanet:293825] synonym: "CDA IV" EXACT [Orphanet:293825] synonym: "CDA type 4" EXACT [Orphanet:293825] synonym: "CDA type IV" EXACT [Orphanet:293825] synonym: "CDA, type 4" RELATED [OMIM:613673] synonym: "CDAN4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613673, Orphanet:293825] synonym: "congenital dyserythropoietic anaemia due to KLF1 mutation" EXACT OMO:0003005 [] synonym: "congenital dyserythropoietic anemia due to KLF1 mutation" EXACT [Orphanet:293825] synonym: "congenital dyserythropoietic anemia type 4" EXACT [Orphanet:293825] synonym: "dyserythropoietic anemia, congenital, type IV" EXACT [OMIM:613673, OMIM:genemap2] xref: DOID:0111400 {source="MONDO:equivalentTo"} xref: OMIM:613673 {source="Orphanet:293825", source="MONDO:equivalentTo", source="Orphanet:293825/e"} xref: Orphanet:293825 {source="OMIM:613673", source="MONDO:equivalentTo"} xref: SCTID:719453009 {source="MONDO:equivalentTo"} xref: UMLS:C3150926 {source="OMIM:613673", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000577 ! congenital anemia is_a: MONDO:0019403 {source="DC-OMIM:613673", source="OMIM:613673", source="Orphanet:293825"} ! congenital dyserythropoietic anemia property_value: exactMatch DOID:0111400 property_value: exactMatch http://identifiers.org/snomedct/719453009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150926 property_value: exactMatch https://omim.org/entry/613673 property_value: exactMatch Orphanet:293825 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013357 name: chromosome 17q11.2 deletion syndrome, 1.4Mb def: "A rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas." [https://orcid.org/0000-0001-5208-3432, Orphanet:97685] subset: ordo_clinical_subtype {source="Orphanet:97685"} subset: ordo_malformation_syndrome {source="Orphanet:137634"} synonym: "17q11 microdeletion syndrome" EXACT [DOID:0060403] synonym: "chromosome 17q11.2 deletion syndrome" EXACT [GARD:0005408] synonym: "chromosome 17q11.2 deletion syndrome, 1.4-MB" EXACT [OMIM:613675] synonym: "Del(17)(q11)" EXACT [Orphanet:97685] synonym: "macrocephaly, macrosomia, and facial dysmorphism syndrome" EXACT [MONDO:Lexical, OMIM:614192] synonym: "MMFD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614192] synonym: "monosomy 17q11" EXACT [Orphanet:97685] synonym: "neurofibromatosis 1 microdeletion syndrome" EXACT [OMIM:613675] synonym: "neurofibromatosis type 1 microdeletion syndrome" EXACT [DOID:0060403, Orphanet:97685] synonym: "NF1 microdeletion syndrome" EXACT [DOID:0060403, OMIM:613675, Orphanet:97685] synonym: "NF1 microduplication syndrome" EXACT [OMIM:613675] synonym: "overgrowth-macrocephaly-facial dysmorphism syndrome" EXACT [MONDO:0013617] synonym: "RNF135-related overgrowth syndrome" EXACT [Orphanet:137634] synonym: "Van Asperen syndrome" EXACT [DOID:0060403, OMIM:613675] xref: DOID:0060403 {source="MONDO:equivalentTo"} xref: MESH:C563524 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: OMIM:613675 {source="Orphanet:97685", source="MONDO:equivalentTo", source="Orphanet:97685/e", source="DOID:0060403"} xref: Orphanet:137634 {source="MONDO:equivalentTo", source="OMIM:614192"} xref: Orphanet:139474 {source="OMIM:613675", source="MONDO:relatedTo"} xref: Orphanet:97685 {source="OMIM:613675", source="MONDO:equivalentTo", source="DOID:0060403"} xref: SCTID:722122000 {source="MONDO:equivalentTo"} xref: UMLS:C3280095 {source="MONDO:equivalentObsolete", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614192"} is_a: MONDO:0016915 {source="Orphanet:97685"} ! partial deletion of the long arm of chromosome 17 is_a: MONDO:0018975 {source="Orphanet:97685"} ! neurofibromatosis type 1 property_value: exactMatch DOID:0060403 property_value: exactMatch http://identifiers.org/mesh/C563524 property_value: exactMatch http://identifiers.org/snomedct/722122000 property_value: exactMatch https://omim.org/entry/613675 property_value: exactMatch Orphanet:137634 property_value: exactMatch Orphanet:97685 property_value: excluded_subClassOf MONDO:0019716 {source="Orphanet:137634"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4209 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5408/chromosome-17q112-deletion-syndrome xsd:string [Term] id: MONDO:0013359 name: familial hyperaldosteronism type III def: "Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia." [Orphanet:251274] subset: ordo_disease {source="Orphanet:251274"} synonym: "familial hyperaldosteronism type 3" EXACT [Orphanet:251274] synonym: "FH 3" RELATED [OMIM:613677] synonym: "FH III" RELATED [GARD:0012362] synonym: "FH-III" EXACT [Orphanet:251274] synonym: "FH3" EXACT ABBREVIATION [Orphanet:251274] synonym: "HALD3" RELATED ABBREVIATION [OMIM:613677] synonym: "hyperaldosteronism, familial, type 3" RELATED [OMIM:613677] synonym: "hyperaldosteronism, familial, type III" RELATED [OMIM:613677] xref: OMIM:613677 {source="Orphanet:251274", source="MONDO:equivalentTo", source="Orphanet:251274/e"} xref: Orphanet:251274 {source="OMIM:613677", source="MONDO:equivalentTo"} xref: SCTID:703234002 {source="MONDO:equivalentTo"} xref: UMLS:C3150933 {source="OMIM:613677", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C3838758 {source="MONDO:equivalentTo"} is_a: MONDO:0016525 {source="Orphanet:251274"} ! familial hyperaldosteronism property_value: exactMatch http://identifiers.org/snomedct/703234002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150933 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3838758 property_value: exactMatch https://omim.org/entry/613677 property_value: exactMatch Orphanet:251274 [Term] id: MONDO:0013360 name: brachyolmia, Maroteaux type def: "Autosomal recessive brachyolmia, Maroteaux type is a relatively mild form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short trunk/short stature, generalized platyspondyly and rounding of vertebral bodies. It remains unknown whether the phenotype represents a single disease entity or a heterogeneous group of mild skeletal dysplasias." [Orphanet:93302] subset: ordo_malformation_syndrome {source="Orphanet:93302"} synonym: "BCYM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613678] synonym: "brachyolmia type 2" EXACT [MONDO:Lexical, OMIM:613678, Orphanet:93302] synonym: "brachyolmia, Maroteaux type" EXACT [OMIM:613678] xref: OMIM:613678 {source="MONDO:equivalentTo", source="Orphanet:93302", source="Orphanet:93302/e"} xref: Orphanet:93302 {source="MONDO:equivalentTo", source="OMIM:613678"} xref: SCTID:389165004 {source="MONDO:equivalentTo"} is_a: MONDO:0015262 {source="DC-OMIM:613678", source="Orphanet:93302"} ! brachyolmia property_value: exactMatch http://identifiers.org/snomedct/389165004 property_value: exactMatch https://omim.org/entry/613678 property_value: exactMatch Orphanet:93302 [Term] id: MONDO:0013361 name: congenital prothrombin deficiency def: "Congenital factor II deficiency is an inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous bleeding symptoms." [Orphanet:325] subset: gard_rare subset: ordo_disease {source="Orphanet:325"} synonym: "congenital factor II deficiency" RELATED [Orphanet:325] synonym: "congenital prothrombin deficiency" EXACT [] synonym: "Dysprothrombinemia" EXACT [OMIM:613679, Orphanet:325] synonym: "factor 2 deficiency" BROAD [GARD:0002235] synonym: "factor II deficiency" BROAD [DOID:2235, NCIT:C26799] synonym: "hereditary prothrombin deficiency" EXACT [MONDO:patterns/hereditary] synonym: "hypoprothrombinemia" BROAD [DOID:2235, OMIM:613679, Orphanet:325] synonym: "prothrombin deficiency" BROAD [OMIM:613679, OMIM:genemap2, Orphanet:325] synonym: "prothrombin deficiency, congenital" RELATED [OMIM:613679] xref: DOID:2235 {source="MONDO:equivalentTo"} xref: ICD9:286.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D007020 {source="DOID:2235", source="MONDO:equivalentTo"} xref: NCIT:C131737 {source="MONDO:equivalentTo"} xref: OMIM:613679 {source="Orphanet:325", source="DOID:2235", source="MONDO:equivalentTo", source="Orphanet:325/e"} xref: Orphanet:325 {source="MONDO:equivalentTo", source="OMIM:613679"} xref: SCTID:73975000 {source="MONDO:equivalentTo"} xref: UMLS:C0020640 {source="Orphanet:325", source="DOID:2235", source="NCIT:C131737", source="MONDO:equivalentTo", source="OMIM:613679", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:1000017 {source="DOID:2235", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015722 {source="Orphanet:325"} ! congenital vitamin K-dependent coagulation factors deficiency is_a: MONDO:0024307 ! prothrombin deficiency intersection_of: MONDO:0024307 ! prothrombin deficiency intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch DOID:2235 property_value: exactMatch http://identifiers.org/mesh/D007020 property_value: exactMatch http://identifiers.org/snomedct/73975000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020640 property_value: exactMatch https://omim.org/entry/613679 property_value: exactMatch NCIT:C131737 property_value: exactMatch Orphanet:325 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2235/factor-2-deficiency xsd:anyURI {source="GARD:0002235"} [Term] id: MONDO:0013362 name: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome subset: ordo_malformation_syndrome {source="Orphanet:363444"} synonym: "BBIS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613680, Orphanet:363444] synonym: "BEAULIEU-BOYCOTT-Innes syndrome" RELATED [MONDO:Lexical, OMIM:613680] synonym: "Beaulieu-Boycott-Innes syndrome" EXACT [Orphanet:363444] synonym: "microcephaly, intellectual disability, and distinctive facies, with Cardiac and genitourinary malformations" RELATED [OMIM:613680] synonym: "microcephaly, mental retardation, and distinctive facies, with Cardiac and genitourinary malformations" RELATED DEPRECATED [OMIM:613680] xref: OMIM:613680 {source="MONDO:equivalentTo", source="Orphanet:363444", source="Orphanet:363444/e"} xref: Orphanet:363444 {source="MONDO:equivalentTo", source="OMIM:613680"} xref: UMLS:C3150939 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613680"} is_a: MONDO:0015159 {source="Orphanet:363444"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150939 property_value: exactMatch https://omim.org/entry/613680 property_value: exactMatch Orphanet:363444 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:363444"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0013364 name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency def: "Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_clinical_subtype {source="Orphanet:353284"} synonym: "EP300 Rubinstein-Taybi syndrome" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "RSTS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613684] synonym: "Rubinstein-Taybi syndrome 2" RELATED [MONDO:Lexical, OMIM:613684] synonym: "Rubinstein-Taybi syndrome caused by mutation in EP300" EXACT [] synonym: "Rubinstein-Taybi syndrome due to EP300 haploinsufficiency" EXACT [] synonym: "Rubinstein-Taybi syndrome type 2" EXACT [MONDORULE:1, OMIM:613684] xref: NCIT:C153291 {source="MONDO:equivalentTo"} xref: OMIM:613684 {source="Orphanet:353284/e", source="MONDO:equivalentTo", source="Orphanet:353284"} xref: Orphanet:353284 {source="OMIM:613684", source="MONDO:equivalentTo"} xref: UMLS:C3150941 {source="OMIM:613684", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019188 {source="DC-OMIM:613684", source="OMIM:613684", source="Orphanet:353284"} ! Rubinstein-Taybi syndrome is_a: MONDO:0800094 {source="PMID:31633310"} ! dysostosis with brachydactyly with extraskeletal manifestations property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150941 property_value: exactMatch https://omim.org/entry/613684 property_value: exactMatch NCIT:C153291 property_value: exactMatch Orphanet:353284 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0013368 name: mammary-digital-nail syndrome def: "Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females." [Orphanet:238744] subset: ordo_malformation_syndrome {source="Orphanet:238744"} synonym: "mammary-digital-nail syndrome" EXACT [MONDO:Lexical, OMIM:613689] synonym: "MDN syndrome" EXACT [Orphanet:238744] synonym: "MDNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613689] synonym: "onycho-digito-mammary syndrome" EXACT [Orphanet:238744] xref: OMIM:613689 {source="Orphanet:238744", source="MONDO:equivalentTo", source="Orphanet:238744/e"} xref: Orphanet:238744 {source="MONDO:equivalentTo", source="OMIM:613689"} xref: SCTID:718679004 {source="MONDO:equivalentTo"} xref: UMLS:C3150946 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613689"} is_a: MONDO:0015852 {source="Orphanet:238744"} ! excess breast volume or number is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation property_value: exactMatch http://identifiers.org/snomedct/718679004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150946 property_value: exactMatch https://omim.org/entry/613689 property_value: exactMatch Orphanet:238744 [Term] id: MONDO:0013372 name: long QT syndrome 5 def: "Any long QT syndrome in which the cause of the disease is a mutation in the KCNE1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0010433"} synonym: "KCNE1 long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "long QT syndrome 2/5, digenic" RELATED [OMIM:613695] synonym: "long QT syndrome 5" EXACT [MONDO:Lexical, OMIM:613695] synonym: "long QT syndrome 5, acquired, susceptibility to" RELATED [OMIM:613695] synonym: "long QT syndrome caused by mutation in KCNE1" EXACT [MONDO:design_pattern] synonym: "long QT syndrome type 5" EXACT [DOID:0110647, MONDORULE:1, OMIM:613695] synonym: "LQT5" EXACT ABBREVIATION [DOID:0110647, MONDO:Lexical, OMIM:613695] xref: DOID:0110647 {source="MONDO:equivalentTo"} xref: HGNC:6240 {source="GARD:0010433"} xref: MESH:C566766 {source="MONDO:equivalentTo"} xref: NCIT:C172094 {source="MONDO:equivalentTo"} xref: OMIM:613695 {source="DOID:0110647", source="MONDO:equivalentTo"} xref: Orphanet:101016 {source="OMIM:613695", source="MONDO:directSiblingOf"} xref: UMLS:C1867904 {source="OMIM:613695", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019171 {source="OMIM:613695", source="Orphanet:101016-prototype"} ! familial long QT syndrome property_value: exactMatch DOID:0110647 property_value: exactMatch http://identifiers.org/mesh/C566766 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867904 property_value: exactMatch https://omim.org/entry/613695 property_value: exactMatch NCIT:C172094 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10433/long-qt-syndrome-5 xsd:anyURI {source="GARD:0010433"} [Term] id: MONDO:0013382 name: progressive demyelinating neuropathy with bilateral striatal necrosis def: "Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities." [Orphanet:217396] subset: ordo_disease {source="Orphanet:217396"} synonym: "bilateral striatal Degeneration and progressive polyneuropathy" RELATED [OMIM:613710] synonym: "progressive polyneuropathy with bilateral striatal necrosis" RELATED [Orphanet:217396] synonym: "striatal Necrosis, bilateral, and progressive polyneuropathy" RELATED [OMIM:613710] synonym: "thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type)" RELATED [MONDO:Lexical, OMIM:613710] synonym: "thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)" EXACT [OMIM:613710, OMIM:genemap2] synonym: "THMD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613710] xref: OMIM:613710 {source="Orphanet:217396/e", source="MONDO:equivalentTo", source="Orphanet:217396"} xref: Orphanet:217396 {source="OMIM:613710", source="MONDO:equivalentTo"} xref: UMLS:C3150973 {source="OMIM:613710", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000152 {source="DC-OMIM:613710", source="OMIM:613710"} ! thiamine-responsive dysfunction syndrome is_a: MONDO:0020127 {source="Orphanet:217396"} ! hereditary peripheral neuropathy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150973 property_value: exactMatch https://omim.org/entry/613710 property_value: exactMatch Orphanet:217396 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013389 name: developmental and epileptic encephalopathy, 12 def: "An extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion." [https://rarediseases.info.nih.gov/diseases/13318/early-infantile-epileptic-encephalopathy-12] subset: gard_rare {source="GARD:0013318"} synonym: "DEE12" EXACT ABBREVIATION [OMIM:613722] synonym: "developmental and epileptic encephalopathy 12" EXACT [OMIM:613722, OMIM:genemap2] synonym: "developmental and epileptic encephalopathy, 12" EXACT [] synonym: "early infantile epileptic encephalopathy 12" EXACT [GARD:0013318] synonym: "early infantile epileptic encephalopathy caused by mutation in PLCB1" EXACT [MONDO:design_pattern] synonym: "EIEE12" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613722] synonym: "epileptic encephalopathy, early infantile, 12" EXACT [MONDO:Lexical, OMIM:613722] synonym: "epileptic encephalopathy, early infantile, type 12" EXACT [MONDORULE:2, OMIM:613722] synonym: "PLCB1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080459 {source="MONDO:equivalentTo"} xref: OMIM:613722 {source="MONDO:equivalentTo"} xref: UMLS:C3150988 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613722"} is_a: MONDO:0017385 {source="Orphanet:293181/btnt"} ! malignant migrating partial seizures of infancy is_a: MONDO:0018097 {source="Orphanet:3451/btnt", source="https://orcid.org/0000-0002-1780-5230"} ! West syndrome is_a: MONDO:0100455 ! neonatal-onset developmental and epileptic encephalopathy property_value: exactMatch DOID:0080459 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150988 property_value: exactMatch https://omim.org/entry/613722 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13318/early-infantile-epileptic-encephalopathy-12 xsd:anyURI {source="GARD:0013318"} [Term] id: MONDO:0013390 name: autosomal recessive limb-girdle muscular dystrophy type 2Q def: "Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is a form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases." [Orphanet:254361] subset: ordo_disease {source="Orphanet:254361"} synonym: "autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency" EXACT [DOID:0110285, Orphanet:254361] synonym: "LGMD2Q" EXACT ABBREVIATION [DOID:0110285, MONDO:Lexical, OMIM:613723, Orphanet:254361] synonym: "limb-girdle muscular dystrophy type 2Q" RELATED [GARD:0012542] synonym: "muscular dystrophy, limb-girdle, autosomal recessive 17" EXACT [OMIM:613723, OMIM:genemap2] synonym: "muscular dystrophy, limb-girdle, type 2Q" EXACT [DOID:0110285, MONDO:Lexical, OMIM:613723] xref: DOID:0110285 {source="MONDO:equivalentTo"} xref: OMIM:613723 {source="Orphanet:254361/e", source="MONDO:equivalentTo", source="DOID:0110285", source="Orphanet:254361"} xref: Orphanet:254361 {source="MONDO:equivalentTo", source="OMIM:613723", source="DOID:0110285"} xref: UMLS:C3150989 {source="MONDO:equivalentTo", source="OMIM:613723", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015152 {source="DOID:0110285", source="OMIM:613723", source="Orphanet:254361"} ! autosomal recessive limb-girdle muscular dystrophy is_a: MONDO:0016198 {source="Orphanet:254361"} ! qualitative or quantitative defects of plectin property_value: exactMatch DOID:0110285 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150989 property_value: exactMatch https://omim.org/entry/613723 property_value: exactMatch Orphanet:254361 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013391 name: sterol carrier protein 2 deficiency def: "A peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy." [Orphanet:163684] subset: ordo_disease {source="Orphanet:163684"} synonym: "leukoencephalopathy - dystonia - motor neuropathy" RELATED [GARD:0012471] synonym: "leukoencephalopathy with dystonia and motor neuropathy" RELATED [OMIM:613724] synonym: "leukoencephalopathy-dystonia-motor neuropathy syndrome" EXACT [Orphanet:163684] synonym: "LKDMN" RELATED ABBREVIATION [OMIM:613724] synonym: "SCP2 deficiency" EXACT [OMIM:613724] synonym: "sterol carrier protein 2 deficiency" EXACT [Orphanet:163684] xref: OMIM:613724 {source="MONDO:equivalentTo", source="Orphanet:163684", source="Orphanet:163684/e"} xref: Orphanet:163684 {source="MONDO:equivalentTo", source="OMIM:613724"} xref: UMLS:C3150990 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613724"} is_a: MONDO:0019046 {source="Orphanet:163684"} ! leukodystrophy is_a: MONDO:0019233 {source="Orphanet:163684", source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of peroxisomal beta oxidation property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150990 property_value: exactMatch https://omim.org/entry/613724 property_value: exactMatch Orphanet:163684 [Term] id: MONDO:0013392 name: autosomal recessive spinocerebellar ataxia 10 def: "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the ANO10 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:284289"} synonym: "adult-onset autosomal recessive cerebellar ataxia" RELATED [Orphanet:284289] synonym: "ANO10 autosomal recessive cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive cerebellar ataxia caused by mutation in ANO10" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spinocerebellar ataxia type 10" EXACT [DOID:0050999, MONDORULE:2, Orphanet:284289] synonym: "SCAR10" EXACT ABBREVIATION [DOID:0050999, MONDO:Lexical, OMIM:613728, Orphanet:284289] synonym: "spinocerebellar ataxia, autosomal recessive 10" RELATED [MONDO:Lexical, OMIM:613728] synonym: "spinocerebellar ataxia, autosomal recessive type 10" EXACT [MONDORULE:2, OMIM:613728] xref: DOID:0050999 {source="MONDO:equivalentTo"} xref: OMIM:613728 {source="MONDO:equivalentTo", source="Orphanet:284289", source="DOID:0050999", source="Orphanet:284289/e"} xref: Orphanet:284289 {source="MONDO:equivalentTo", source="OMIM:613728"} xref: UMLS:C3150998 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613728"} is_a: MONDO:0015244 {source="DOID:0050999", source="MONDO:Redundant", source="Orphanet:284289"} ! autosomal recessive cerebellar ataxia property_value: exactMatch DOID:0050999 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150998 property_value: exactMatch https://omim.org/entry/613728 property_value: exactMatch Orphanet:284289 [Term] id: MONDO:0013393 name: distal 7q11.23 microdeletion syndrome def: "Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression)." [Orphanet:254351] subset: ordo_malformation_syndrome {source="Orphanet:254351"} synonym: "chromosome 7q11.23 deletion syndrome, distal, 1.2-MB" RELATED [OMIM:613729] synonym: "chromosome 7q11.23 deletion syndrome, distal, 1.2mb" EXACT [OMIM:613729, OMIM:genemap2] synonym: "distal chromosome 7Q11.23 deletion syndrome" RELATED [OMIM:613729] synonym: "distal del(7)(q11.23)" EXACT [Orphanet:254351] synonym: "distal monosomy 7q11.23" EXACT [Orphanet:254351] xref: OMIM:613729 {source="Orphanet:254351", source="MONDO:equivalentTo", source="Orphanet:254351/e"} xref: Orphanet:254351 {source="MONDO:equivalentTo", source="OMIM:613729"} xref: UMLS:C3150999 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613729"} is_a: MONDO:0016906 {source="Orphanet:254351"} ! partial deletion of the long arm of chromosome 7 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150999 property_value: exactMatch https://omim.org/entry/613729 property_value: exactMatch Orphanet:254351 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013394 name: porencephaly-microcephaly-bilateral congenital cataract syndrome subset: ordo_malformation_syndrome {source="Orphanet:306547"} synonym: "HDBSCC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613730] synonym: "hemorrhagic destruction of the brain, subependymal calcification, and cataracts" RELATED [MONDO:Lexical, OMIM:613730] synonym: "porencephaly-microcephaly-bilateral congenital cataract syndrome" EXACT [] xref: OMIM:613730 {source="Orphanet:306547", source="MONDO:equivalentTo", source="Orphanet:306547/e"} xref: Orphanet:306547 {source="OMIM:613730", source="MONDO:equivalentTo"} xref: UMLS:C3151000 {source="OMIM:613730", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:306547", source="Orphanet:306547/inferred"} ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151000 property_value: exactMatch https://omim.org/entry/613730 property_value: exactMatch Orphanet:306547 [Term] id: MONDO:0013396 name: chromosome 1p32-p31 deletion syndrome def: "1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures." [Orphanet:401986] subset: ordo_malformation_syndrome {source="Orphanet:401986"} synonym: "1p31p32 microdeletion syndrome" EXACT [DOID:0060409] synonym: "brain malformations with or without urinary tract defects" RELATED [OMIM:613735] synonym: "BRMUTD" RELATED ABBREVIATION [OMIM:613735] synonym: "chromosome 1p32-p31 deletion syndrome" EXACT [OMIM:613735] synonym: "Del(1)(p31p32)" EXACT [Orphanet:401986] synonym: "monosomy 1p31p32" EXACT [Orphanet:401986] xref: DOID:0060409 {source="MONDO:equivalentTo"} xref: Orphanet:401986 {source="MONDO:equivalentTo", source="OMIM:613735", source="DOID:0060409"} xref: SCTID:766766005 {source="MONDO:equivalentTo"} xref: UMLS:C3151036 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613735"} xref: UMLS:CN226149 {source="MONDO:equivalentTo"} is_a: MONDO:0015160 {source="Orphanet:401986"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0016883 {source="Orphanet:401986"} ! partial deletion of the short arm of chromosome 1 property_value: exactMatch DOID:0060409 property_value: exactMatch http://identifiers.org/snomedct/766766005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151036 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226149 property_value: exactMatch Orphanet:401986 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0013400 name: Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency def: "A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels." [https://orcid.org/0000-0001-5208-3432, Orphanet:168558] subset: ordo_disease {source="Orphanet:168558"} synonym: "46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency" RELATED [Orphanet:168558] synonym: "46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency syndrome" RELATED [Orphanet:168558] synonym: "adrenal insufficiency, congenital, with 46,XY SEX reversal, partial or complete" EXACT [DOID:0050546, OMIM:613743] synonym: "adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete" EXACT [OMIM:613743, OMIM:genemap2] synonym: "cholesterol side-chain cleavage deficiency" EXACT [NCIT:C131422] synonym: "p450scc deficiency" EXACT [DOID:0050546, OMIM:613743] synonym: "XY sex reversal-adrenal failure" EXACT [Orphanet:168558] synonym: "XY sex reversal-adrenal failure syndrome" EXACT [Orphanet:168558] xref: DOID:0050546 {source="MONDO:equivalentTo"} xref: MESH:C566130 {source="MONDO:equivalentTo"} xref: NCIT:C131422 {source="MONDO:equivalentTo"} xref: OMIM:613743 {source="DOID:0050546", source="MONDO:equivalentTo", source="Orphanet:168558", source="Orphanet:168558/e"} xref: Orphanet:168558 {source="OMIM:613743", source="MONDO:equivalentTo"} xref: UMLS:C3151055 {source="OMIM:613743", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0005539 {source="MONDO:Entailed", source="Orphanet:168558", source="Orphanet:168558/inferred"} ! adrenal gland disease is_a: MONDO:0017969 ! 46,XY disorder of sex development of endocrine origin relationship: has_characteristic MONDO:0021136 {source="MONDO:0015971"} ! rare property_value: exactMatch DOID:0050546 property_value: exactMatch http://identifiers.org/mesh/C566130 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151055 property_value: exactMatch https://omim.org/entry/613743 property_value: exactMatch NCIT:C131422 property_value: exactMatch Orphanet:168558 property_value: excluded_subClassOf MONDO:0015129 {source="Orphanet:168558"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013401 name: hereditary spastic paraplegia 51 def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4E1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "AP4E1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant spastic paraplegia 51" EXACT [DOID:0110803] synonym: "cerebral palsy, spastic quadriplegic, 4" RELATED [OMIM:613744] synonym: "cerebral palsy, spastic quadriplegic, 4, formerly" RELATED [OMIM:613744] synonym: "CPSQ4" EXACT ABBREVIATION [DOID:0110803] synonym: "hereditary spastic paraplegia caused by mutation in AP4E1" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 51" EXACT [DOID:0110803, MONDORULE:2] synonym: "spastic paraplegia 51, autosomal recessive" RELATED [MONDO:Lexical, OMIM:613744] synonym: "spastic quadriplegic cerebral palsy 4" EXACT [DOID:0110803] synonym: "SPG51" EXACT ABBREVIATION [DOID:0110803, MONDO:Lexical, OMIM:613744] xref: DOID:0110803 {source="MONDO:equivalentTo"} xref: OMIM:613744 {source="MONDO:equivalentTo", source="DOID:0110803"} xref: UMLS:C3151056 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613744"} is_a: MONDO:0017241 {source="Orphanet:280763/btnt"} ! AP4-related intellectual disability and spastic paraplegia property_value: exactMatch DOID:0110803 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151056 property_value: exactMatch https://omim.org/entry/613744 [Term] id: MONDO:0013404 name: hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase def: "Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterized by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels." [Orphanet:88618] subset: ordo_disease {source="Orphanet:88618"} synonym: "hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency" EXACT [DOID:0111039, Orphanet:88618] synonym: "hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase" EXACT [] synonym: "hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency" RELATED [OMIM:613752] synonym: "psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency" EXACT [DOID:0111039] xref: DOID:0111039 {source="MONDO:equivalentTo"} xref: OMIM:613752 {source="DOID:0111039", source="MONDO:equivalentTo", source="Orphanet:88618", source="Orphanet:88618/e"} xref: Orphanet:88618 {source="DOID:0111039", source="OMIM:613752", source="MONDO:equivalentTo"} xref: SCTID:724039002 {source="MONDO:equivalentTo"} xref: UMLS:C3151058 {source="OMIM:613752", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:88618"} xref: UMLS:C4510276 {source="MONDO:equivalentTo"} is_a: MONDO:0000351 {source="DC-OMIM:613752", source="DOID:0111039"} ! disorder of methionine catabolism relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: exactMatch DOID:0111039 property_value: exactMatch http://identifiers.org/snomedct/724039002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151058 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510276 property_value: exactMatch https://omim.org/entry/613752 property_value: exactMatch Orphanet:88618 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:88618"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0013408 name: FADD-related immunodeficiency def: "A rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance." [Orphanet:306550] subset: ordo_disease {source="Orphanet:306550"} synonym: "Fadd deficiency" RELATED [OMIM:613759] synonym: "FADD-related immunodeficiency" EXACT [] synonym: "immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction" EXACT [OMIM:613759, OMIM:genemap2] synonym: "infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations" RELATED [OMIM:613759] xref: OMIM:613759 {source="MONDO:equivalentTo", source="Orphanet:306550", source="Orphanet:306550/e"} xref: Orphanet:306550 {source="MONDO:equivalentTo", source="OMIM:613759"} xref: SCTID:723334006 {source="MONDO:equivalentTo"} xref: UMLS:C3151062 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613759"} xref: UMLS:C4509831 {source="MONDO:equivalentTo"} is_a: MONDO:0021094 {source="https://orcid.org/0000-0001-5208-3432"} ! immunodeficiency disease property_value: exactMatch http://identifiers.org/snomedct/723334006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151062 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4509831 property_value: exactMatch https://omim.org/entry/613759 property_value: exactMatch Orphanet:306550 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013410 name: 46,XY sex reversal 6 synonym: "46,XY gonadal dysgenesis, partial or complete, Map3K1-related" RELATED [OMIM:613762] synonym: "46,XY SEX reversal 6" RELATED [OMIM:613762] synonym: "46,XY sex reversal 6" EXACT [MONDO:Lexical, OMIM:613762] synonym: "46,XY Sex reversal type 6" EXACT [MONDORULE:1, OMIM:613762] synonym: "46,XY Sex reversal, partial or complete, Map3K1-related" RELATED [OMIM:613762] synonym: "46XY sex reversal 6" EXACT [OMIM:613762, OMIM:genemap2] synonym: "SRXY6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613762] xref: DOID:0111769 {source="MONDO:equivalentTo"} xref: OMIM:613762 {source="MONDO:equivalentTo"} xref: UMLS:C3151064 {source="OMIM:613762", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0010765 {source="OMIM:613762", source="Orphanet:242/btnt"} ! 46,XY complete gonadal dysgenesis is_a: MONDO:0016674 {source="Orphanet:251510/btnt"} ! 46,XY partial gonadal dysgenesis property_value: exactMatch DOID:0111769 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151064 property_value: exactMatch https://omim.org/entry/613762 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013411 name: cataract 16 multiple types def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYAB gene." [MONDO:patterns/disease_series_by_gene] synonym: "cataract 16, multiple types" RELATED [MONDO:Lexical, OMIM:613763] synonym: "cataract, congenital lamellar" RELATED [OMIM:613763] synonym: "cataract, posterior polar, 2" RELATED [OMIM:613763] synonym: "CRYAB early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CTPP2" NARROW ABBREVIATION [DOID:0110250] synonym: "CTRCT16" EXACT ABBREVIATION [DOID:0110250, MONDO:Lexical, OMIM:613763] synonym: "early-onset non-syndromic cataract caused by mutation in CRYAB" EXACT [MONDO:design_pattern] synonym: "posterior polar cataract 2" NARROW [DOID:0110250] xref: DOID:0110250 {source="MONDO:equivalentTo"} xref: MESH:C565134 {source="MONDO:equivalentTo"} xref: OMIM:613763 {source="MONDO:equivalentTo", source="DOID:0110250"} is_a: MONDO:0020379 {source="Orphanet:98995/btnt"} ! early-onset zonular cataract property_value: exactMatch DOID:0110250 property_value: exactMatch http://identifiers.org/mesh/C565134 property_value: exactMatch https://omim.org/entry/613763 [Term] id: MONDO:0013415 name: chromosome 17p13.1 deletion syndrome synonym: "17p13.1 deletion syndrome" RELATED [GARD:0010996] synonym: "chromosome 17p13.1 deletion syndrome" EXACT [OMIM:613776] xref: DOID:0060402 {source="MONDO:equivalentTo"} xref: OMIM:613776 {source="DOID:0060402", source="MONDO:equivalentTo"} xref: UMLS:C3151069 {source="OMIM:613776", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0022754 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 17p deletion property_value: exactMatch DOID:0060402 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151069 property_value: exactMatch https://omim.org/entry/613776 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0013417 name: complement component 3 deficiency def: "A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the third complement component, C3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If C3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum C3 and its major cleavage product, C3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of C3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease." [NCIT:P378] subset: ordo_disease {source="Orphanet:280133"} synonym: "C3 classic complement early component deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "C3 deficiency" EXACT [DOID:8354, Orphanet:280133] synonym: "C3 deficiency, autosomal recessive" RELATED [OMIM:613779] synonym: "C3d" RELATED [MONDO:Lexical, OMIM:613779] synonym: "classic complement early component deficiency caused by mutation in C3" EXACT [MONDO:design_pattern] synonym: "complement component 3 deficiency, autosomal recessive" RELATED [MONDO:Lexical, OMIM:613779] xref: DOID:8354 {source="MONDO:equivalentTo"} xref: MESH:C565169 {source="MONDO:equivalentTo"} xref: NCIT:C9468 {source="MONDO:equivalentTo", source="DOID:8354"} xref: OMIM:613779 {source="MONDO:equivalentTo", source="Orphanet:280133", source="DOID:8354", source="Orphanet:280133/e"} xref: Orphanet:280133 {source="MONDO:equivalentTo", source="OMIM:613779", source="DOID:8354"} xref: UMLS:C1332655 {source="NCIT:C9468", source="MONDO:equivalentTo", source="DOID:8354"} xref: UMLS:C3151071 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:280133", source="OMIM:613779"} is_a: MONDO:0000015 {source="DC-OMIM:613779", source="MONDO:Redundant"} ! classic complement early component deficiency property_value: exactMatch DOID:8354 property_value: exactMatch http://identifiers.org/mesh/C565169 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332655 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151071 property_value: exactMatch https://omim.org/entry/613779 property_value: exactMatch NCIT:C9468 property_value: exactMatch Orphanet:280133 [Term] id: MONDO:0013419 name: complement component C1s deficiency def: "A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis." [PMID:11390518] synonym: "C1s deficiency" RELATED [OMIM:613783] synonym: "C1SD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613783] synonym: "complement component C1s deficiency" EXACT [MONDO:Lexical, OMIM:613783] xref: MESH:C565170 {source="MONDO:equivalentTo"} xref: OMIM:613783 {source="MONDO:equivalentTo"} xref: UMLS:C3151078 {source="OMIM:613783", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000015 {source="DC-OMIM:613783"} ! classic complement early component deficiency is_a: MONDO:0015699 {source="Orphanet:169147/btnt"} ! immunodeficiency due to a classical component pathway complement deficiency property_value: exactMatch http://identifiers.org/mesh/C565170 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151078 property_value: exactMatch https://omim.org/entry/613783 [Term] id: MONDO:0013421 name: type II complement component 8 deficiency def: "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8B gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0010625"} synonym: "C8 Beta deficiency" RELATED [OMIM:613789] synonym: "C8 deficiency type II" RELATED [GARD:0010625] synonym: "C8 deficiency, type 2" RELATED [OMIM:613789] synonym: "C8 deficiency, type II" EXACT [OMIM:613789, OMIM:genemap2] synonym: "C8B classic complement early component deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "C8B deficiency" RELATED [OMIM:613789] synonym: "C8D2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613789] synonym: "classic complement early component deficiency caused by mutation in C8B" EXACT [MONDO:design_pattern] synonym: "complement component 8 deficiency type 2" RELATED [GARD:0010625] synonym: "complement component 8 deficiency type II" RELATED [GARD:0010625] synonym: "complement component 8 deficiency, type 2" RELATED [OMIM:613789] synonym: "complement component 8 deficiency, type II" RELATED [MONDO:Lexical, OMIM:613789] synonym: "complement component 8B deficiency" RELATED [OMIM:613789] synonym: "Human complement C8-beta deficiency" RELATED [GARD:0010625] xref: DOID:0060302 {source="MONDO:equivalentTo"} xref: HGNC:1353 {source="GARD:0010625"} xref: OMIM:613789 {source="MONDO:equivalentTo", source="DOID:0060302"} xref: UMLS:C3151080 {source="MONDO:equivalentTo", source="OMIM:613789", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000015 {source="DC-OMIM:613789", source="MONDO:Redundant"} ! classic complement early component deficiency is_a: MONDO:0015700 {source="Orphanet:169150/btnt"} ! immunodeficiency due to a late component of complement deficiency property_value: exactMatch DOID:0060302 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151080 property_value: exactMatch https://omim.org/entry/613789 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10625/complement-component-8-deficiency-type-2 xsd:anyURI {source="GARD:0010625"} [Term] id: MONDO:0013423 name: immunodeficiency due to MASP-2 deficiency def: "Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic." [Orphanet:331187] subset: ordo_disease {source="Orphanet:331187"} synonym: "immunodeficiency due to MASP-2 deficiency" EXACT [] synonym: "lectin complement activation pathway, defect in, 2" RELATED [OMIM:613791] synonym: "MASP2 deficiency" RELATED [OMIM:613791] xref: MESH:C565360 {source="MONDO:equivalentTo"} xref: OMIM:613791 {source="Orphanet:331187", source="MONDO:equivalentTo", source="Orphanet:331187/e"} xref: Orphanet:331187 {source="MONDO:equivalentTo", source="OMIM:613791"} xref: UMLS:C3151085 {source="Orphanet:331187", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613791"} is_a: MONDO:0044209 {source="OMIM:613791"} ! disorder of lectin complement activation pathway property_value: exactMatch http://identifiers.org/mesh/C565360 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151085 property_value: exactMatch https://omim.org/entry/613791 property_value: exactMatch Orphanet:331187 [Term] id: MONDO:0013424 name: 3p- syndrome def: "Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated." [Orphanet:1620] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1620"} synonym: "3p deletion" RELATED [GARD:0000037] synonym: "3p monosomy" RELATED [GARD:0000037] synonym: "3p- syndrome" EXACT [OMIM:613792, Orphanet:1620] synonym: "chromosome 3, monosomy 3p25" RELATED [GARD:0003750] synonym: "chromosome 3p deletion" RELATED [GARD:0000037] synonym: "chromosome 3p- syndrome" RELATED [GARD:0003750] synonym: "chromosome 3pter-p25 deletion syndrome" EXACT [DOID:0060417, OMIM:613792] synonym: "Del(3p) syndrome" RELATED [GARD:0003750] synonym: "del(3p25)" RELATED [NCIT:C41377] synonym: "deletion 3p" RELATED [GARD:0000037] synonym: "deletion 3p25" RELATED [GARD:0003750] synonym: "distal 3p deletion" EXACT [Orphanet:1620] synonym: "distal monosomy 3p" EXACT [DOID:0060417] synonym: "distal monosomy type 3p" EXACT [MONDORULE:4, Orphanet:1620] synonym: "monosomy 3p" RELATED [GARD:0000037] synonym: "monosomy 3pter" EXACT [Orphanet:1620] synonym: "partial monosomy 3p" RELATED [GARD:0000037] synonym: "telomeric monosomy 3p" EXACT [Orphanet:1620] xref: DOID:0060417 {source="MONDO:equivalentTo"} xref: MESH:C536804 {source="MONDO:equivalentTo"} xref: NCIT:C41377 {source="MONDO:relatedTo"} xref: OMIM:613792 {source="Orphanet:1620", source="MONDO:equivalentTo", source="DOID:0060417", source="Orphanet:1620/e"} xref: Orphanet:1620 {source="MONDO:equivalentTo", source="DOID:0060417", source="OMIM:613792"} xref: SCTID:763528002 {source="MONDO:equivalentTo"} is_a: MONDO:0016885 {source="Orphanet:1620"} ! partial deletion of the short arm of chromosome 3 is_a: MONDO:0017393 {source="Orphanet:1620"} ! blepharophimosis - intellectual disability syndrome property_value: exactMatch DOID:0060417 property_value: exactMatch http://identifiers.org/mesh/C536804 property_value: exactMatch http://identifiers.org/snomedct/763528002 property_value: exactMatch https://omim.org/entry/613792 property_value: exactMatch Orphanet:1620 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI property_value: relatedMatch NCIT:C41377 [Term] id: MONDO:0013426 name: aneurysm-osteoarthritis syndrome subset: clingen subset: ordo_disease {source="Orphanet:284984"} synonym: "aneurysm - osteoarthritis syndrome" RELATED [GARD:0010997] synonym: "aneurysm-osteoarthritis syndrome" EXACT [] synonym: "aneurysms-osteoarthritis syndrome" RELATED [OMIM:613795] synonym: "LDS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613795] synonym: "Loeys-Dietz syndrome 3" RELATED [MONDO:Lexical, OMIM:613795] synonym: "Loeys-Dietz syndrome type 3" EXACT [MONDORULE:1, OMIM:613795] synonym: "Loeys-Dietz syndrome with osteoarthritis" RELATED [OMIM:613795] synonym: "Loeys-Dietz syndrome, type 1C" RELATED DEPRECATED [OMIM:613795] synonym: "Loeys-Dietz syndrome, type 1C (formerly)" RELATED DEPRECATED [GARD:0010997] synonym: "Loeys-Dietz syndrome, type 1C, formerly" RELATED DEPRECATED [OMIM:613795] synonym: "Loeys-Dietz syndrome, type 3" RELATED [GARD:0010997] xref: DOID:0070237 {source="MONDO:equivalentTo"} xref: OMIM:613795 {source="MONDO:equivalentTo", source="Orphanet:284984", source="Orphanet:284984/e"} xref: Orphanet:284984 {source="OMIM:613795", source="MONDO:equivalentTo"} xref: UMLS:C3151087 {source="OMIM:613795", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018954 {source="DC-OMIM:613795", source="OMIM:613795"} ! Loeys-Dietz syndrome is_a: MONDO:0800091 {source="PMID:31633310"} ! overgrowth or tall stature syndrome with skeletal involvement property_value: exactMatch DOID:0070237 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151087 property_value: exactMatch https://omim.org/entry/613795 property_value: exactMatch Orphanet:284984 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0013427 name: immunodeficiency 31B subset: ordo_disease {source="Orphanet:391311"} synonym: "IMD31B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613796] synonym: "immunodeficiency 31B" EXACT [MONDO:Lexical, OMIM:613796] synonym: "immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive" RELATED [OMIM:613796] synonym: "immunodeficiency type 31B" EXACT [MONDORULE:4, OMIM:613796] synonym: "STAT1 deficiency" EXACT [Orphanet:391311] synonym: "Stat1 deficiency, autosomal recessive" RELATED [OMIM:613796] synonym: "susceptibility to viral and mycobacterial infections" BROAD [Orphanet:391311] xref: DOID:0111944 {source="MONDO:equivalentTo"} xref: OMIM:613796 {source="Orphanet:391311/e", source="MONDO:equivalentTo", source="Orphanet:391311"} xref: Orphanet:391311 {source="OMIM:613796", source="MONDO:equivalentTo"} xref: UMLS:C3151088 {source="OMIM:613796", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015979 {source="Orphanet:391311"} ! hereditary predisposition to infections property_value: exactMatch DOID:0111944 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151088 property_value: exactMatch https://omim.org/entry/613796 property_value: exactMatch Orphanet:391311 [Term] id: MONDO:0013439 name: congenital bile acid synthesis defect 3 def: "Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease." [Orphanet:79302] subset: ordo_disease {source="Orphanet:79302"} synonym: "BASD3" EXACT ABBREVIATION [Orphanet:79302] synonym: "bile acid synthesis defect, congenital, 3" RELATED [MONDO:Lexical, OMIM:613812] synonym: "bile acid synthesis defect, congenital, type 3" EXACT [MONDORULE:1, OMIM:613812] synonym: "CBAS3" EXACT ABBREVIATION [DOID:0111070, MONDO:Lexical, OMIM:613812] synonym: "congenital bile acid synthesis defect caused by mutation in CYP7B1" EXACT [MONDO:design_pattern] synonym: "congenital bile acid synthesis defect type 3" EXACT [DOID:0111070, MONDORULE:1] synonym: "CYP7B1 congenital bile acid synthesis defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "oxysterol 7-alpha-hydroxylase deficiency" EXACT [DOID:0111070, Orphanet:79302] xref: DOID:0111070 {source="MONDO:equivalentTo"} xref: MESH:C566340 {source="DOID:0111070", source="Orphanet:79302/e", source="MONDO:equivalentTo", source="Orphanet:79302"} xref: OMIM:613812 {source="DOID:0111070", source="Orphanet:79302/e", source="MONDO:equivalentTo", source="Orphanet:79302"} xref: Orphanet:79302 {source="DOID:0111070", source="MONDO:equivalentTo", source="OMIM:613812"} xref: SCTID:719454003 {source="MONDO:equivalentTo"} xref: UMLS:C3151147 {source="DOID:0111070", source="Orphanet:79302/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613812", source="Orphanet:79302"} xref: UMLS:C4304715 {source="MONDO:equivalentTo"} is_a: EFO:0009039 {source="DC-OMIM:613812", source="DOID:0111070", source="MONDO:Redundant", source="OMIM:613812", source="Orphanet:79302"} ! Congenital bile acid synthesis defect relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch DOID:0111070 property_value: exactMatch http://identifiers.org/mesh/C566340 property_value: exactMatch http://identifiers.org/snomedct/719454003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151147 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304715 property_value: exactMatch https://omim.org/entry/613812 property_value: exactMatch Orphanet:79302 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0013440 name: autosomal recessive limb-girdle muscular dystrophy type 2P def: "Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles." [Orphanet:280333] subset: ordo_disease {source="Orphanet:280333"} synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DAG1" EXACT [MONDO:design_pattern] synonym: "DAG1 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "LGMD2P" EXACT ABBREVIATION [DOID:0110293, Orphanet:280333] synonym: "limb-girdle muscular dystrophy type 2P" RELATED [GARD:0012541] synonym: "MDDGC9" EXACT ABBREVIATION [DOID:0110293, MONDO:Lexical, OMIM:613818] synonym: "muscular dystrophy, limb-girdle, type 2P" RELATED [OMIM:613818] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C9" EXACT [DOID:0110293] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9" RELATED [MONDO:Lexical, OMIM:613818] synonym: "muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related" EXACT [DOID:0110293] synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, Dag1-related" RELATED [OMIM:613818] xref: DOID:0110293 {source="MONDO:equivalentTo"} xref: OMIM:613818 {source="Orphanet:280333/e", source="DOID:0110293", source="MONDO:equivalentTo", source="Orphanet:280333"} xref: Orphanet:280333 {source="DOID:0110293", source="MONDO:equivalentTo", source="OMIM:613818"} xref: UMLS:C3151184 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613818"} is_a: MONDO:0000173 {source="DC-OMIM:613818", source="OMIM:613818"} ! muscular dystrophy-dystroglycanopathy, type C is_a: MONDO:0015152 {source="DOID:0110293", source="MONDO:Redundant", source="OMIM:613818", source="Orphanet:280333"} ! autosomal recessive limb-girdle muscular dystrophy is_a: MONDO:0015286 ! congenital disorder of glycosylation property_value: exactMatch DOID:0110293 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151184 property_value: exactMatch https://omim.org/entry/613818 property_value: exactMatch Orphanet:280333 [Term] id: MONDO:0013452 name: multisystemic smooth muscle dysfunction syndrome def: "Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypo peristalsis). A certain mutation in the ACTA2 gene has been shown to cause this condition insome individuals." [https://rarediseases.info.nih.gov/diseases/12811/multisystemic-smooth-muscle-dysfunction-syndrome] subset: gard_rare {source="GARD:0012811"} subset: ordo_disease {source="Orphanet:404463"} synonym: "congenital mydriasis, patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy" RELATED [GARD:0012811] synonym: "multisystemic smooth muscle dysfunction syndrome" EXACT [OMIM:613834] synonym: "mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy" RELATED [OMIM:613834] xref: OMIM:613834 {source="Orphanet:404463/e", source="MONDO:equivalentTo", source="Orphanet:404463"} xref: Orphanet:404463 {source="MONDO:equivalentTo", source="OMIM:613834"} xref: UMLS:C3151201 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613834"} is_a: EFO:0004264 ! vascular disease is_a: MONDO:0021189 {source="Orphanet:404463"} ! intestinal motility disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015106", source="MONDO:0015184", source="MONDO:0015511", source="MONDO:0019110"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151201 property_value: exactMatch https://omim.org/entry/613834 property_value: exactMatch Orphanet:404463 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12811/multisystemic-smooth-muscle-dysfunction-syndrome xsd:anyURI {source="GARD:0012811"} [Term] id: MONDO:0013456 name: constitutional megaloblastic anemia with severe neurologic disease subset: ordo_disease {source="Orphanet:319651"} synonym: "DHFR deficiency" EXACT [OMIM:613839, Orphanet:319651] synonym: "dihydrofolate reductase deficiency" EXACT [Orphanet:319651] synonym: "megaloblastic anaemia due to dihydrofolate reductase deficiency" RELATED OMO:0003005 [] synonym: "megaloblastic anemia due to dihydrofolate reductase deficiency" RELATED [OMIM:613839] xref: MESH:C565095 {source="MONDO:equivalentTo"} xref: OMIM:613839 {source="MONDO:equivalentTo", source="Orphanet:319651", source="Orphanet:319651/e"} xref: Orphanet:319651 {source="MONDO:equivalentTo", source="OMIM:613839"} xref: SCTID:124178006 {source="MONDO:equivalentTo"} is_a: MONDO:0001700 {source="DC-OMIM:613839", source="MONDO:indirect"} ! megaloblastic anemia is_a: MONDO:0016624 ! inherited deficiency anemia is_a: MONDO:0017313 {source="Orphanet:319651"} ! disorder of folate metabolism and transport property_value: exactMatch http://identifiers.org/mesh/C565095 property_value: exactMatch http://identifiers.org/snomedct/124178006 property_value: exactMatch https://omim.org/entry/613839 property_value: exactMatch Orphanet:319651 [Term] id: MONDO:0013458 name: hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome subset: ordo_disease {source="Orphanet:363694"} synonym: "HUPRA syndrome" EXACT [Orphanet:363694] synonym: "Hupra syndrome" RELATED [OMIM:613845] synonym: "HUPRAS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613845] synonym: "hyperuricemia, pulmonary hypertension, renal failure, and alkalosis" EXACT [OMIM:613845, OMIM:genemap2] synonym: "hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome" RELATED [MONDO:Lexical, OMIM:613845] xref: OMIM:613845 {source="Orphanet:363694", source="MONDO:equivalentTo", source="Orphanet:363694/e"} xref: Orphanet:363694 {source="MONDO:equivalentTo", source="OMIM:613845"} xref: UMLS:C3151209 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613845"} is_a: MONDO:0005149 {source="MONDO:0017159-obsoleted"} ! pulmonary hypertension is_a: MONDO:0015962 {source="Orphanet:363694"} ! inherited renal tubular disease is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151209 property_value: exactMatch https://omim.org/entry/613845 property_value: exactMatch Orphanet:363694 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013461 name: inosine triphosphatase deficiency def: "An inherited condition caused by mutation(s) in the ITPA gene, encoding inosine triphosphate pyrophosphatase. It is characterized by elevated concentrations of inosine triphosphate in erythrocytes." [NCIT:C129974] synonym: "inosine triphosphatase deficiency" EXACT [OMIM:613850, OMIM:genemap2] synonym: "inosine triphosphate pyrophosphohydrolase deficiency" RELATED [OMIM:613850] xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C564127 {source="MONDO:equivalentTo"} xref: NCIT:C129974 {source="MONDO:equivalentTo"} xref: OMIM:613850 {source="MONDO:equivalentTo"} xref: Orphanet:319684 {source="OMIM:613850", source="MONDO:equivalentObsolete"} xref: SCTID:238011005 {source="MONDO:equivalentTo"} xref: UMLS:C0342800 {source="OMIM:613850", source="MONDO:equivalentTo", source="NCIT:C129974"} is_a: EFO:0000508 {source="MESH:C564127/inferred"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C564127 property_value: exactMatch http://identifiers.org/snomedct/238011005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342800 property_value: exactMatch https://omim.org/entry/613850 property_value: exactMatch NCIT:C129974 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013462 name: fucosyltransferase 6 deficiency synonym: "fucosyltransferase 6 deficiency" EXACT [OMIM:613852, OMIM:genemap2] xref: OMIM:613852 {source="MONDO:equivalentTo"} xref: UMLS:C3151219 {source="OMIM:613852", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151219 property_value: exactMatch https://omim.org/entry/613852 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013464 name: episodic ataxia type 5 def: "Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia lasting several hours." [Orphanet:211067] subset: ordo_disease {source="Orphanet:211067"} synonym: "CACNB4 hereditary episodic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "EA5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613855] synonym: "episodic ataxia, type 5" RELATED [MONDO:Lexical, OMIM:613855] synonym: "hereditary episodic ataxia caused by mutation in CACNB4" EXACT [MONDO:design_pattern] xref: DOID:0050993 {source="MONDO:equivalentTo"} xref: MESH:C566601 {source="MONDO:equivalentTo"} xref: OMIM:613855 {source="Orphanet:211067", source="DOID:0050993", source="MONDO:equivalentTo", source="Orphanet:211067/e"} xref: Orphanet:211067 {source="MONDO:equivalentTo", source="OMIM:613855"} xref: SCTID:718756005 {source="MONDO:equivalentTo"} xref: UMLS:C1866039 {source="Orphanet:211067", source="MONDO:equivalentTo", source="OMIM:613855", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0016227 {source="DOID:0050993", source="MONDO:Redundant", source="OMIM:613855", source="Orphanet:211067"} ! hereditary episodic ataxia property_value: exactMatch DOID:0050993 property_value: exactMatch http://identifiers.org/mesh/C566601 property_value: exactMatch http://identifiers.org/snomedct/718756005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866039 property_value: exactMatch https://omim.org/entry/613855 property_value: exactMatch Orphanet:211067 [Term] id: MONDO:0013467 name: immunodeficiency due to ficolin3 deficiency subset: ordo_disease {source="Orphanet:331190"} synonym: "Fcn3 deficiency" RELATED [OMIM:613860] synonym: "ficolin 3 deficiency" RELATED [OMIM:613860] synonym: "immunodeficiency due to ficolin 3 deficiency" RELATED [OMIM:613860] synonym: "lectin complement activation pathway, defect in, 3" RELATED [OMIM:613860] xref: OMIM:613860 {source="MONDO:equivalentTo", source="Orphanet:331190", source="Orphanet:331190/e"} xref: Orphanet:331190 {source="OMIM:613860", source="MONDO:equivalentTo"} xref: SCTID:766705006 {source="MONDO:equivalentTo"} xref: UMLS:C3151226 {source="OMIM:613860", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0044209 {source="OMIM:613860"} ! disorder of lectin complement activation pathway property_value: exactMatch http://identifiers.org/snomedct/766705006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151226 property_value: exactMatch https://omim.org/entry/613860 property_value: exactMatch Orphanet:331190 [Term] id: MONDO:0013472 name: fatal infantile hypertonic myofibrillar myopathy subset: ordo_disease {source="Orphanet:280553"} synonym: "alpha-B crystalin-related fatal infantile hypertonic myofibrillar myopathy" EXACT [DOID:0080098, OMIM:613869] synonym: "fatal infantile hypertonic myofibrillar myopathy" EXACT [Orphanet:280553] synonym: "MFM, fatal infantile hypertonic, alpha-B crystallin-related" RELATED [OMIM:613869] synonym: "myofibrillar myopathy type 7" RELATED [DOID:0080098] synonym: "myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related" RELATED [OMIM:613869] xref: DOID:0080309 {source="MONDO:equivalentTo"} xref: OMIM:613869 {source="Orphanet:280553/e", source="MONDO:equivalentTo", source="Orphanet:280553", source="DOID:0080309"} xref: Orphanet:280553 {source="MONDO:equivalentTo", source="OMIM:613869"} xref: UMLS:C3151236 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613869"} is_a: MONDO:0018779 {source="Orphanet:280553"} ! hypercontractile muscle stiffness syndrome property_value: exactMatch DOID:0080309 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151236 property_value: exactMatch https://omim.org/entry/613869 property_value: exactMatch Orphanet:280553 [Term] id: MONDO:0013474 name: hypertrophic cardiomyopathy 17 def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the JPH2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "cardiomyopathy familial hypertrophic 17" EXACT [DOID:0110323] synonym: "cardiomyopathy, familial hypertrophic, 17" RELATED [MONDO:Lexical, OMIM:613873] synonym: "cardiomyopathy, familial hypertrophic, type 17" EXACT [MONDORULE:2, OMIM:613873] synonym: "cardiomyopathy, hypertrophic, 17" EXACT [OMIM:613873, OMIM:genemap2] synonym: "CMH17" EXACT ABBREVIATION [DOID:0110323, MONDO:Lexical, OMIM:613873] synonym: "hypertrophic cardiomyopathy caused by mutation in JPH2" EXACT [MONDO:design_pattern] synonym: "hypertrophic cardiomyopathy type 17" EXACT [DOID:0110323, MONDORULE:2] synonym: "JPH2 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110323 {source="MONDO:equivalentTo"} xref: OMIM:613873 {source="MONDO:equivalentTo", source="DOID:0110323"} xref: UMLS:C3151264 {source="OMIM:613873", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0024573 {source="MONDO:OMIM", source="OMIM:613873"} ! familial hypertrophic cardiomyopathy property_value: exactMatch DOID:0110323 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151264 property_value: exactMatch https://omim.org/entry/613873 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013476 name: hypertrophic cardiomyopathy 19 def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CALR3 gene." [MONDO:patterns/disease_series_by_gene] synonym: "CALR3 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "cardiomyopathy familial hypertrophic 19" EXACT [DOID:0110325] synonym: "cardiomyopathy, familial hypertrophic, 19" RELATED [MONDO:Lexical, OMIM:613875] synonym: "cardiomyopathy, familial hypertrophic, type 19" EXACT [MONDORULE:2, OMIM:613875] synonym: "CMH19" EXACT ABBREVIATION [DOID:0110325, MONDO:Lexical, OMIM:613875] synonym: "hypertrophic cardiomyopathy caused by mutation in CALR3" EXACT [MONDO:design_pattern] synonym: "hypertrophic cardiomyopathy type 19" EXACT [DOID:0110325, MONDORULE:2] xref: DOID:0110325 {source="MONDO:equivalentObsolete"} xref: OMIM:613875 {source="DOID:0110325", source="MONDO:equivalentObsolete"} xref: UMLS:C3151266 {source="MONDO:equivalentObsolete", source="OMIM:613875", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0024573 {source="MONDO:OMIM", source="OMIM:613875"} ! familial hypertrophic cardiomyopathy [Term] id: MONDO:0013477 name: hypertrophic cardiomyopathy 20 def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene." [MONDO:patterns/disease_series_by_gene] synonym: "cardiomyopathy familial hypertrophic 20" EXACT [DOID:0110326] synonym: "cardiomyopathy, familial hypertrophic, 20" RELATED [MONDO:Lexical, OMIM:613876] synonym: "cardiomyopathy, familial hypertrophic, type 20" EXACT [MONDORULE:2, OMIM:613876] synonym: "cardiomyopathy, hypertrophic, 20" EXACT [OMIM:613876, OMIM:genemap2] synonym: "CMH20" EXACT ABBREVIATION [DOID:0110326, MONDO:Lexical, OMIM:613876] synonym: "hypertrophic cardiomyopathy caused by mutation in NEXN" EXACT [MONDO:design_pattern] synonym: "hypertrophic cardiomyopathy type 20" EXACT [DOID:0110326, MONDORULE:2] synonym: "NEXN hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110326 {source="MONDO:equivalentTo"} xref: OMIM:613876 {source="DOID:0110326", source="MONDO:equivalentTo"} xref: UMLS:C3151267 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613876"} is_a: MONDO:0024573 {source="MONDO:OMIM", source="OMIM:613876"} ! familial hypertrophic cardiomyopathy property_value: exactMatch DOID:0110326 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151267 property_value: exactMatch https://omim.org/entry/613876 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013478 name: PLIN1-related familial partial lipodystrophy subset: ordo_disease {source="Orphanet:280356"} synonym: "familial partial lipodystrophy associated with PLIN1 mutations" RELATED [GARD:0012601] synonym: "familial partial lipodystrophy type 4" RELATED [GARD:0012601] synonym: "FPLD due to PLIN1 mutations" RELATED [GARD:0012601] synonym: "FPLD4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613877, Orphanet:280356] synonym: "lipodystrophy, familial partial, associated with Plin1 mutations" RELATED [OMIM:613877] synonym: "lipodystrophy, familial partial, type 4" RELATED [MONDO:Lexical, OMIM:613877] synonym: "PLIN1-related FPLD" EXACT [Orphanet:280356] xref: DOID:0070205 {source="MONDO:equivalentTo"} xref: OMIM:613877 {source="Orphanet:280356/e", source="MONDO:equivalentTo", source="Orphanet:280356"} xref: Orphanet:280356 {source="MONDO:equivalentTo", source="OMIM:613877"} xref: UMLS:C3151268 {source="MONDO:equivalentTo", source="OMIM:613877", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0020088 {source="DC-OMIM:613877", source="OMIM:613877", source="Orphanet:280356"} ! familial partial lipodystrophy property_value: exactMatch DOID:0070205 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151268 property_value: exactMatch https://omim.org/entry/613877 property_value: exactMatch Orphanet:280356 property_value: excluded_subClassOf MONDO:0005015 {source="MONDO:0015885-obsoleted"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5723 xsd:anyURI [Term] id: MONDO:0013481 name: chromosome 13q14 deletion syndrome def: "Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism." [Orphanet:1587] subset: ordo_malformation_syndrome {source="Orphanet:1587"} synonym: "chromosome 13Q deletion syndrome" RELATED [OMIM:613884] synonym: "chromosome 13q14 deletion syndrome" EXACT [OMIM:613884] synonym: "chromosome 13q14 deletion syndrome, isolated cases" EXACT [OMIM:613884, OMIM:genemap2] synonym: "Del(13)(q14)" EXACT [Orphanet:1587] synonym: "del(13q14)" EXACT [NCIT:C36421] synonym: "deletion 13q14" EXACT [DOID:0060391, Orphanet:1587] synonym: "monosomy 13q14" RELATED [Orphanet:1587] synonym: "monosomy type 13q14" EXACT [MONDORULE:7, Orphanet:1587] xref: DOID:0060391 {source="MONDO:equivalentTo"} xref: MESH:C535484 {source="MONDO:relatedTo"} xref: NCIT:C36421 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy"} xref: OMIM:613884 {source="Orphanet:1587", source="MONDO:equivalentTo", source="Orphanet:1587/e", source="DOID:0060391"} xref: Orphanet:1587 {source="OMIM:613884", source="MONDO:equivalentTo", source="DOID:0060391"} is_a: MONDO:0016911 {source="Orphanet:1587"} ! partial deletion of the long arm of chromosome 13 is_a: MONDO:0020165 {source="Orphanet:1587"} ! syndromic epicanthus property_value: exactMatch DOID:0060391 property_value: exactMatch https://omim.org/entry/613884 property_value: exactMatch NCIT:C36421 property_value: exactMatch Orphanet:1587 property_value: excluded_subClassOf MONDO:0020226 {source="Orphanet:1587"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: relatedMatch http://identifiers.org/mesh/C535484 [Term] id: MONDO:0013483 name: obesity, hyperphagia, and developmental delay synonym: "obesity, hyperphagia, and developmental delay" EXACT [MONDO:Lexical, OMIM:613886] synonym: "OBHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613886] xref: MESH:C563938 {source="MONDO:equivalentTo"} xref: OMIM:613886 {source="MONDO:equivalentTo"} xref: UMLS:C3151303 {source="OMIM:613886", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C563938 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151303 property_value: exactMatch https://omim.org/entry/613886 [Term] id: MONDO:0013485 name: spinocerebellar ataxia type 35 def: "Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis." [Orphanet:276193] subset: ordo_disease {source="Orphanet:276193"} synonym: "SCA35" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613908, Orphanet:276193] synonym: "spinocerebellar ataxia 35" RELATED [MONDO:Lexical, OMIM:613908] synonym: "spinocerebellar ataxia type 35" EXACT [MONDORULE:2, OMIM:613908] xref: DOID:0050982 {source="MONDO:equivalentTo"} xref: OMIM:613908 {source="DOID:0050982", source="Orphanet:276193/e", source="MONDO:equivalentTo", source="Orphanet:276193"} xref: Orphanet:276193 {source="OMIM:613908", source="MONDO:equivalentTo"} xref: SCTID:719300001 {source="MONDO:equivalentTo"} xref: UMLS:C4304822 {source="MONDO:equivalentObsolete"} xref: UMLS:CN202597 {source="MONDO:equivalentTo"} is_a: MONDO:0019792 {source="Orphanet:276193"} ! autosomal dominant cerebellar ataxia type I property_value: exactMatch DOID:0050982 property_value: exactMatch http://identifiers.org/snomedct/719300001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202597 property_value: exactMatch https://omim.org/entry/613908 property_value: exactMatch Orphanet:276193 [Term] id: MONDO:0013486 name: spinocerebellar ataxia type 32 def: "Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, cognitive impairment and azoospermia in males." [Orphanet:276183] subset: ordo_disease {source="Orphanet:276183"} synonym: "cerebellar ataxia with azoospermia and intellectual disability" EXACT [Orphanet:276183] synonym: "SCA32" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613909, Orphanet:276183] synonym: "spinocerebellar ataxia 32" RELATED [MONDO:Lexical, OMIM:613909] xref: OMIM:613909 {source="Orphanet:276183/e", source="MONDO:equivalentTo", source="Orphanet:276183"} xref: Orphanet:276183 {source="OMIM:613909", source="MONDO:equivalentTo"} xref: SCTID:719254001 {source="MONDO:equivalentTo"} xref: UMLS:C3151343 {source="OMIM:613909", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4304844 {source="MONDO:equivalentObsolete"} is_a: MONDO:0019792 {source="Orphanet:276183"} ! autosomal dominant cerebellar ataxia type I property_value: exactMatch http://identifiers.org/snomedct/719254001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151343 property_value: exactMatch https://omim.org/entry/613909 property_value: exactMatch Orphanet:276183 [Term] id: MONDO:0013487 name: recurrent Neisseria infections due to factor D deficiency subset: ordo_disease {source="Orphanet:169467"} synonym: "CFDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613912] synonym: "complement factor D deficiency" RELATED [MONDO:Lexical, OMIM:613912] synonym: "factor D deficiency" RELATED [OMIM:613912] synonym: "recurrent Neisseria infections due to factor D deficiency" EXACT [] xref: ICD9:279.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C565027 {source="MONDO:equivalentTo"} xref: OMIM:613912 {source="Orphanet:169467", source="MONDO:equivalentTo", source="Orphanet:169467/e"} xref: Orphanet:169467 {source="MONDO:equivalentTo", source="OMIM:613912"} xref: SCTID:234607008 {source="MONDO:equivalentTo"} xref: UMLS:C0398764 {source="Orphanet:169467", source="MONDO:equivalentTo", source="OMIM:613912"} is_a: MONDO:0003832 {source="https://orcid.org/0000-0001-5208-3432"} ! complement deficiency property_value: exactMatch http://identifiers.org/mesh/C565027 property_value: exactMatch http://identifiers.org/snomedct/234607008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398764 property_value: exactMatch https://omim.org/entry/613912 property_value: exactMatch Orphanet:169467 [Term] id: MONDO:0013497 name: Okt4 epitope deficiency synonym: "Okt4 epitope deficiency" EXACT [OMIM:613949] synonym: "T4 epitope deficiency" RELATED [OMIM:613949] xref: OMIM:613949 {source="MONDO:equivalentTo"} xref: UMLS:C3151379 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613949"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151379 property_value: exactMatch https://omim.org/entry/613949 [Term] id: MONDO:0013499 name: Fanconi anemia complementation group P def: "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Fanconi anaemia caused by mutation in SLX4" EXACT OMO:0003005 [] synonym: "Fanconi anaemia caused by mutation in Slx4" EXACT OMO:0003005 [] synonym: "Fanconi anaemia complementation group type P" EXACT OMO:0003005 [] synonym: "Fanconi anemia caused by mutation in SLX4" EXACT [] synonym: "Fanconi anemia caused by mutation in Slx4" EXACT [MONDO:design_pattern] synonym: "Fanconi anemia complementation group type P" EXACT [DOID:0111092, MONDORULE:1] synonym: "Fanconi anemia, complementation group P" RELATED [MONDO:Lexical, OMIM:613951] synonym: "Fanconi Anemia, complementation group type P" EXACT [MONDORULE:1, OMIM:613951] synonym: "FANCP" EXACT ABBREVIATION [DOID:0111092, MONDO:Lexical, OMIM:613951] synonym: "SLX4 Fanconi anaemia" EXACT OMO:0003005 [] synonym: "Slx4 Fanconi anaemia" EXACT OMO:0003005 [] synonym: "SLX4 Fanconi anemia" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Slx4 Fanconi anemia" EXACT [MONDO:design_pattern] xref: DOID:0111092 {source="MONDO:equivalentTo"} xref: OMIM:613951 {source="DOID:0111092", source="MONDO:equivalentTo"} is_a: MONDO:0019391 {source="DC-OMIM:613951", source="DOID:0111092", source="MONDO:Redundant", source="OMIM:613951"} ! Fanconi anemia property_value: exactMatch DOID:0111092 property_value: exactMatch https://omim.org/entry/613951 [Term] id: MONDO:0013500 name: immunodeficiency 51 synonym: "CANDF5" RELATED DEPRECATED [MONDO:Lexical, OMIM:613953] synonym: "candidiasis, familial chronic mucocutaneous, autosomal recessive" RELATED DEPRECATED [OMIM:613953] synonym: "candidiasis, familial, 5" RELATED DEPRECATED [MONDO:Lexical, OMIM:613953] synonym: "candidiasis, familial, 5, formerly" RELATED [OMIM:613953] synonym: "candidiasis, familial, type 5" RELATED DEPRECATED [MONDORULE:1, OMIM:613953] synonym: "IMD51" RELATED ABBREVIATION [OMIM:613953] synonym: "immunodeficiency 51" EXACT [OMIM:613953] xref: DOID:0111996 {source="MONDO:equivalentTo"} xref: OMIM:613953 {source="MONDO:equivalentTo"} xref: Orphanet:1334 {source="MONDO:relatedTo", source="OMIM:613953"} xref: UMLS:C3151402 {source="MONDO:equivalentObsolete", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613953"} xref: UMLS:C4310803 {source="MONDO:equivalentTo", source="OMIM:613953"} is_a: MONDO:0015279 ! chronic mucocutaneous candidiasis property_value: exactMatch DOID:0111996 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310803 property_value: exactMatch https://omim.org/entry/613953 [Term] id: MONDO:0013511 name: cyanosis, transient neonatal synonym: "cyanosis, transient neonatal" EXACT [MONDO:Lexical, OMIM:613977] synonym: "TNCY" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613977] xref: OMIM:613977 {source="MONDO:equivalentTo"} xref: UMLS:C3151421 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613977"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151421 property_value: exactMatch https://omim.org/entry/613977 [Term] id: MONDO:0013512 name: hemoglobin H disease def: "Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia characterized by pronounced microcytic hypochromic hemolytic anemia." [Orphanet:93616] subset: ordo_clinical_subtype {source="Orphanet:93616"} synonym: "alpha thalassemia, haemoglobin H type" EXACT OMO:0003005 [] synonym: "alpha thalassemia, hemoglobin H type" EXACT [DOID:0110031] synonym: "Alpha-thalassemia intermedia" EXACT [Orphanet:93616] synonym: "alpha-thalassemia intermedia" EXACT [DOID:0110031] synonym: "Alpha-thalassemia, Haemoglobin H type" RELATED OMO:0003005 [] synonym: "Alpha-thalassemia, Hemoglobin H type" RELATED [OMIM:613978] synonym: "Haemoglobin H disease, Deletional" RELATED OMO:0003005 [] synonym: "haemoglobin H disease, deletional" EXACT OMO:0003005 [] synonym: "haemoglobin H disease, deletional and nondeletional" EXACT OMO:0003005 [] synonym: "Haemoglobin H disease, Nondeletional" RELATED OMO:0003005 [] synonym: "HbH" EXACT [DOID:0110031, MONDO:Lexical, OMIM:613978] synonym: "HbH disease" EXACT [Orphanet:93616] synonym: "HEMOGLOBIN H disease" RELATED [OMIM:613978] synonym: "hemoglobin H disease" EXACT [MONDO:Lexical, OMIM:613978] synonym: "Hemoglobin H disease, Deletional" RELATED [OMIM:613978] synonym: "hemoglobin H disease, deletional" EXACT [DOID:0110031] synonym: "hemoglobin H disease, deletional and nondeletional" EXACT [OMIM:613978, OMIM:genemap2] synonym: "Hemoglobin H disease, Nondeletional" RELATED [OMIM:613978] xref: DOID:0110031 {source="MONDO:equivalentTo"} xref: ICD9:282.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10063435 {source="Orphanet:93616/e", source="Orphanet:93616"} xref: NCIT:C95504 {source="MONDO:equivalentTo"} xref: OMIM:613978 {source="Orphanet:93616/e", source="MONDO:equivalentTo", source="DOID:0110031", source="Orphanet:93616"} xref: Orphanet:93616 {source="MONDO:equivalentTo", source="DOID:0110031", source="OMIM:613978"} xref: SCTID:48553001 {source="MONDO:equivalentTo"} xref: UMLS:C3161174 {source="NCIT:C95504", source="Orphanet:93616/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613978", source="Orphanet:93616"} is_a: MONDO:0011399 {source="DOID:0110031", source="NCIT:C95504", source="Orphanet:93616"} ! alpha thalassemia relationship: disease_has_feature MONDO:0019844 {source="Orphanet:93616"} ! pituitary hormone deficiency secondary to storage disease property_value: closeMatch http://identifiers.org/meddra/10063435 property_value: exactMatch DOID:0110031 property_value: exactMatch http://identifiers.org/snomedct/48553001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3161174 property_value: exactMatch https://omim.org/entry/613978 property_value: exactMatch NCIT:C95504 property_value: exactMatch Orphanet:93616 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013517 name: beta-thalassemia HBB/LCRB def: "Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype." [SCDO:0000251] comment: OMIM has the gene LCRB implicated in this disease but this gene does not exist in HGNC. It does exist in NCBI gene (HBB-LCR NCBIgene:109580095). synonym: "beta-thalassemia" RELATED [OMIM:613985] synonym: "thalassemia, beta" EXACT [OMIM:613985, OMIM:genemap2] synonym: "thalassemia, hispanic gamma-delta-beta" EXACT [OMIM:613985, OMIM:genemap2] xref: OMIM:613985 {source="MONDO:equivalentTo"} xref: SCDO:0000251 {source="MONDO:equivalentTo"} is_a: MONDO:0019402 {source="DC-OMIM:613985"} ! beta thalassemia property_value: exactMatch https://omim.org/entry/613985 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013521 name: dyskeratosis congenita, autosomal dominant 2 def: "A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERT on chromosome 5p15.33." [DOID:0070016] synonym: "autosomal dominant dyskeratosis congenita 2" RELATED [DOID:0070016] synonym: "DKCA2" EXACT ABBREVIATION [DOID:0070016, MONDO:Lexical, OMIM:613989] synonym: "dyskeratosis congenita, autosomal dominant 2" EXACT [MONDO:Lexical, OMIM:613989] synonym: "dyskeratosis congenita, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:613989] synonym: "dyskeratosis congenita, autosomal recessive 4" RELATED [OMIM:613989] xref: DOID:0070016 {source="MONDO:equivalentTo"} xref: NCIT:C176922 {source="MONDO:equivalentTo"} xref: OMIM:613989 {source="DOID:0070016", source="MONDO:equivalentTo"} xref: Orphanet:3322 {source="MONDO:relatedTo", source="OMIM:613989"} xref: UMLS:C3151443 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613989"} is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0015780 {source="DOID:0070016", source="MONDO:Redundant", source="OMIM:613989"} ! dyskeratosis congenita property_value: exactMatch DOID:0070016 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151443 property_value: exactMatch https://omim.org/entry/613989 property_value: exactMatch NCIT:C176922 [Term] id: MONDO:0013522 name: dyskeratosis congenita, autosomal dominant 3 def: "A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TINF2 on chromosome 14q12." [DOID:0070018] synonym: "autosomal dominant dyskeratosis congenita 3" RELATED [DOID:0070018] synonym: "DKCA3" EXACT ABBREVIATION [DOID:0070018, MONDO:Lexical, OMIM:613990] synonym: "dyskeratosis congenita, autosomal dominant 3" EXACT [MONDO:Lexical, OMIM:613990] synonym: "dyskeratosis congenita, autosomal dominant type 3" EXACT [MONDORULE:1, OMIM:613990] xref: DOID:0070018 {source="MONDO:equivalentTo"} xref: NCIT:C176923 {source="MONDO:equivalentTo"} xref: OMIM:613990 {source="MONDO:equivalentTo", source="DOID:0070018"} xref: Orphanet:3322 {source="MONDO:relatedTo", source="OMIM:613990"} xref: UMLS:C3151445 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613990"} is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0015780 {source="DOID:0070018", source="MONDO:Redundant", source="OMIM:613990"} ! dyskeratosis congenita property_value: exactMatch DOID:0070018 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151445 property_value: exactMatch https://omim.org/entry/613990 property_value: exactMatch NCIT:C176923 [Term] id: MONDO:0013523 name: Nestor-Guillermo progeria syndrome subset: gard_rare {source="GARD:0011008"} subset: ordo_malformation_syndrome {source="Orphanet:280576"} synonym: "Nestor-Guillermo progeria syndrome" EXACT [MONDO:Lexical, OMIM:614008] synonym: "NGPS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614008, Orphanet:280576] synonym: "progeria syndrome, childhood-onset, with osteolysis" RELATED [OMIM:614008] synonym: "PSCOO" RELATED ABBREVIATION [GARD:0011008] xref: DOID:0081334 {source="MONDO:equivalentTo"} xref: OMIM:614008 {source="Orphanet:280576/e", source="MONDO:equivalentTo", source="Orphanet:280576"} xref: Orphanet:280576 {source="MONDO:equivalentTo", source="OMIM:614008"} xref: UMLS:C3151446 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614008"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0019707 {source="MONDO:Redundant", source="Orphanet:280576"} ! primary osteolysis is_a: MONDO:0020732 {source="MONDO:OMIMPS"} ! progeria property_value: exactMatch DOID:0081334 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151446 property_value: exactMatch https://omim.org/entry/614008 property_value: exactMatch Orphanet:280576 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11008/nestor-guillermo-progeria-syndrome xsd:anyURI {source="GARD:0011008"} [Term] id: MONDO:0013524 name: bleeding diathesis due to thromboxane synthesis deficiency comment: This will be obsoleted in the 2023-11-01 release. The term will be split and the new ID for this term will be MONDO:0800446 (bleeding diathesis due to thromboxane synthesis deficiency (Orphanet:220443)), and MONDO:0800447 (bleeding disorder, platelet-type, 13, susceptibility to (OMIM:614009)). subset: obsoletion_candidate subset: ordo_disease {source="Orphanet:220443"} subset: predisposition synonym: "BDPLT13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614009] synonym: "bleeding disorder, platelet-type, 13, susceptibility to" RELATED [MONDO:Lexical, OMIM:614009] synonym: "bleeding disorder, susceptibility to, due to defective platelet thromboxane A2 receptor" RELATED [OMIM:614009] synonym: "susceptibility to platelet-type bleeding disorder 13" RELATED [OMIM:614009] xref: OMIM:614009 {source="Orphanet:220443", source="MONDO:equivalentTo", source="Orphanet:220443/e"} xref: Orphanet:220443 {source="MONDO:equivalentTo", source="OMIM:614009"} is_a: MONDO:0000009 {source="DC-OMIM:614009", source="MONDO:Redundant", source="OMIM:614009"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0018796 {source="Orphanet:220443"} ! isolated constitutional thrombocytopenia is_a: MONDO:0020573 {source="OMIM:614009"} ! inherited disease susceptibility property_value: exactMatch https://omim.org/entry/614009 property_value: exactMatch Orphanet:220443 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6419#issuecomment-1615253065 xsd:anyURI property_value: IAO:0006012 "2023-11-01" xsd:string [Term] id: MONDO:0013526 name: progressive myoclonic epilepsy type 6 def: "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the GOSR2 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:280620"} synonym: "epilepsy, progressive myoclonic 6" EXACT [OMIM:614018, OMIM:genemap2] synonym: "epilepsy, progressive myoclonic, 6" RELATED [MONDO:Lexical, OMIM:614018] synonym: "epilepsy, progressive myoclonic, type 6" EXACT [MONDORULE:1, OMIM:614018] synonym: "EPM6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614018, Orphanet:280620] synonym: "GOSR2 progressive myoclonic epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "GOSR2-related progressive myoclonus ataxia" EXACT [Orphanet:280620] synonym: "North Sea progressive myoclonus epilepsy" EXACT [Orphanet:280620] synonym: "PME type 6" EXACT [Orphanet:280620] synonym: "progressive myoclonic epilepsy caused by mutation in GOSR2" EXACT [MONDO:design_pattern] synonym: "progressive myoclonus epilepsy type 6" EXACT [Orphanet:280620] xref: DOID:0111449 {source="MONDO:equivalentTo"} xref: OMIM:614018 {source="Orphanet:280620/e", source="MONDO:equivalentTo", source="Orphanet:280620"} xref: Orphanet:280620 {source="OMIM:614018", source="MONDO:equivalentTo"} xref: UMLS:C3279627 {source="OMIM:614018", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0020074 {source="DC-OMIM:614018", source="MONDO:Redundant", source="OMIM:614018", source="Orphanet:280620"} ! progressive myoclonus epilepsy property_value: exactMatch DOID:0111449 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279627 property_value: exactMatch https://omim.org/entry/614018 property_value: exactMatch Orphanet:280620 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013531 name: PSPH deficiency def: "3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome." [Orphanet:79350] subset: ordo_disease {source="Orphanet:79350"} synonym: "3-phosphoserine phosphatase deficiency" RELATED [Orphanet:79350] synonym: "phosphoserine phosphatase deficiency" EXACT [DOID:0050724, MONDO:Lexical, OMIM:614023] synonym: "PSPH deficiency" EXACT [] synonym: "PSPHD" EXACT ABBREVIATION [DOID:0050724, MONDO:Lexical, OMIM:614023] xref: DOID:0050724 {source="MONDO:equivalentTo"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:614023 {source="MONDO:equivalentTo", source="DOID:0050724", source="Orphanet:79350", source="Orphanet:79350/e"} xref: Orphanet:79350 {source="MONDO:equivalentTo", source="OMIM:614023"} xref: SCTID:124432005 {source="MONDO:equivalentTo"} xref: UMLS:C1291463 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614023"} is_a: MONDO:0018162 {source="Orphanet:79350"} ! neurometabolic disorder due to serine deficiency relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: exactMatch DOID:0050724 property_value: exactMatch http://identifiers.org/snomedct/124432005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1291463 property_value: exactMatch https://omim.org/entry/614023 property_value: exactMatch Orphanet:79350 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:79350"} [Term] id: MONDO:0013532 name: protein Z deficiency synonym: "protein Z deficiency" EXACT [OMIM:614024] synonym: "protein z deficiency" EXACT [OMIM:614024, OMIM:genemap2] xref: OMIM:614024 {source="MONDO:equivalentTo"} xref: UMLS:C3151465 {source="OMIM:614024", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151465 property_value: exactMatch https://omim.org/entry/614024 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013533 name: hyperlipidemia due to hepatic triglyceride lipase deficiency def: "Hyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic hyperalphalipoproteinemia characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated." [Orphanet:140905] subset: ordo_disease {source="Orphanet:140905"} synonym: "hepatic lipase deficiency" RELATED [OMIM:614025] synonym: "HL deficiency" RELATED [OMIM:614025] synonym: "hyperlipidemia due to hepatic lipase deficiency" EXACT [Orphanet:140905] synonym: "hyperlipidemia due to hepatic triacylglycerol lipase deficiency" RELATED [Orphanet:140905] synonym: "hyperlipidemia due to HL deficiency" EXACT [Orphanet:140905] synonym: "hyperlipidemia due to HTGL deficiency" EXACT [Orphanet:140905] synonym: "lipc deficiency" RELATED [OMIM:614025] xref: OMIM:614025 {source="Orphanet:140905", source="MONDO:equivalentTo", source="Orphanet:140905/e"} xref: Orphanet:140905 {source="OMIM:614025", source="MONDO:equivalentTo"} xref: SCTID:720940008 {source="MONDO:equivalentTo"} xref: UMLS:C3151466 {source="OMIM:614025", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015903 {source="Orphanet:140905"} ! hyperalphalipoproteinemia property_value: exactMatch http://identifiers.org/snomedct/720940008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151466 property_value: exactMatch https://omim.org/entry/614025 property_value: exactMatch Orphanet:140905 [Term] id: MONDO:0013536 name: heme oxygenase 1 deficiency subset: ordo_disease synonym: "heme oxygenase 1 deficiency" EXACT [MONDO:Lexical, OMIM:614034] synonym: "heme oxygenase-1 deficiency" EXACT [OMIM:614034, OMIM:genemap2] synonym: "HMOX1D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614034] xref: MESH:C564200 {source="MONDO:equivalentTo"} xref: OMIM:614034 {source="MONDO:equivalentTo"} xref: Orphanet:562509 {source="MONDO:equivalentTo"} xref: UMLS:C1841651 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614034"} is_a: MONDO:0017754 {source="Orphanet:562509"} ! inborn disorder of porphyrin metabolism property_value: exactMatch http://identifiers.org/mesh/C564200 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1841651 property_value: exactMatch https://omim.org/entry/614034 property_value: exactMatch Orphanet:562509 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013539 name: hypotonia-failure to thrive-microcephaly syndrome def: "Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly." [Orphanet:79507] subset: ordo_disease {source="Orphanet:79507"} synonym: "leukotriene C4 synthase deficiency" EXACT [OMIM:614037, Orphanet:79507] synonym: "LTC4 synthase deficiency" EXACT [OMIM:614037, Orphanet:79507] xref: MESH:C565439 {source="MONDO:equivalentTo"} xref: OMIM:614037 {source="MONDO:equivalentTo", source="Orphanet:79507", source="Orphanet:79507/e"} xref: Orphanet:79507 {source="OMIM:614037", source="MONDO:equivalentTo"} xref: SCTID:717185008 {source="MONDO:equivalentTo"} xref: UMLS:C3279662 {source="OMIM:614037", source="MONDO:equivalentTo", source="Orphanet:79507"} is_a: MONDO:0019052 {source="MONDO:0019602-obsoleted"} ! inborn errors of metabolism property_value: exactMatch http://identifiers.org/mesh/C565439 property_value: exactMatch http://identifiers.org/snomedct/717185008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279662 property_value: exactMatch https://omim.org/entry/614037 property_value: exactMatch Orphanet:79507 [Term] id: MONDO:0013540 name: deafness-lymphedema-leukemia syndrome def: "Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders." [Orphanet:3226] subset: gard_rare {source="GARD:0013030"} subset: ordo_malformation_syndrome {source="Orphanet:3226"} synonym: "deafness-lymphedema-leukemia syndrome" EXACT [] synonym: "Emberger syndrome" EXACT [OMIM:614038, Orphanet:3226] synonym: "lymphedema, primary, with myelodysplasia" RELATED [OMIM:614038] xref: ICD9:757.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:614038 {source="Orphanet:3226", source="MONDO:equivalentTo", source="Orphanet:3226/e"} xref: Orphanet:3226 {source="OMIM:614038", source="MONDO:equivalentTo"} xref: SCTID:700057001 {source="MONDO:equivalentTo"} xref: UMLS:C3279664 {source="OMIM:614038", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019044 {source="Orphanet:3226"} ! tumor of hematopoietic and lymphoid tissues is_a: MONDO:0019313 ! lymphatic malformation is_a: MONDO:0019520 {source="MONDO:Redundant", source="Orphanet:3226"} ! syndromic lymphedema is_a: MONDO:0024296 ! vascular neoplasm is_a: MONDO:0042982 {source="https://github.com/monarch-initiative/mondo/issues/261"} ! GATA2 deficiency with susceptibility to MDS/AML property_value: exactMatch http://identifiers.org/snomedct/700057001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279664 property_value: exactMatch https://omim.org/entry/614038 property_value: exactMatch Orphanet:3226 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13030/deafness-lymphedema-leukemia-syndrome xsd:anyURI {source="GARD:0013030"} [Term] id: MONDO:0013541 name: complex cortical dysplasia with other brain malformations 1 def: "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB3 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:300570"} synonym: "CDCBM1" EXACT ABBREVIATION [DOID:0090137, MONDO:Lexical, OMIM:614039] synonym: "complex cortical dysplasia with other brain malformations caused by mutation in TUBB3" EXACT [MONDO:design_pattern] synonym: "complex cortical dysplasia with other brain malformations type 1" EXACT [DOID:0090137, MONDORULE:1] synonym: "cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation" EXACT [DOID:0090137] synonym: "cortical dysplasia, complex, with other brain malformations 1" RELATED [MONDO:Lexical, OMIM:614039] synonym: "cortical dysplasia, Complex, with Other brain malformations type 1" EXACT [MONDORULE:1, OMIM:614039] synonym: "TUBB3 complex cortical dysplasia with other brain malformations" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090137 {source="MONDO:equivalentTo"} xref: OMIM:614039 {source="Orphanet:300570/e", source="MONDO:equivalentTo", source="DOID:0090137", source="Orphanet:300570"} xref: Orphanet:300570 {source="OMIM:614039", source="MONDO:equivalentTo", source="DOID:0090137"} xref: UMLS:CN203402 {source="MONDO:equivalentTo"} is_a: MONDO:0000904 {source="DOID:0090137", source="MONDO:Redundant", source="OMIM:614039"} ! complex cortical dysplasia with other brain malformations property_value: exactMatch DOID:0090137 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203402 property_value: exactMatch https://omim.org/entry/614039 property_value: exactMatch Orphanet:300570 [Term] id: MONDO:0013543 name: trypsinogen deficiency synonym: "trypsinogen deficiency" EXACT [OMIM:614044] xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:614044 {source="MONDO:equivalentTo"} xref: SCTID:190953007 {source="MONDO:equivalentTo"} xref: UMLS:C0268417 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614044"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://identifiers.org/snomedct/190953007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268417 property_value: exactMatch https://omim.org/entry/614044 [Term] id: MONDO:0013546 name: mitochondrial complex V (ATP synthase) deficiency nuclear type 2 def: "A mitochondrial complex deficiency characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria." [Orphanet:1194] subset: ordo_disease {source="Orphanet:1194"} synonym: "3-MGCA type IV (3-MGCA-4) (formerly)" RELATED [GARD:0012965] synonym: "encephalocardiomyopathy, mitochondrial, neonatal, due to ATP synthase deficiency" RELATED [OMIM:614052] synonym: "MC5DN2" EXACT ABBREVIATION [DOID:0060331, MONDO:Lexical, OMIM:614052] synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 2" RELATED [OMIM:614052] synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, Tmem70 type" RELATED [OMIM:614052] synonym: "mitochondrial complex V (ATP synthase) deficiency, nuclear type 2" RELATED [MONDO:Lexical, OMIM:614052] synonym: "mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency" EXACT [Orphanet:1194] synonym: "mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency" EXACT [Orphanet:1194] synonym: "mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency" EXACT [Orphanet:1194] synonym: "neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency" EXACT [DOID:0060331] synonym: "TMEM70 defect" RELATED [GARD:0012965] synonym: "TMEM70-related mitochondrial encephalo-cardio-myopathy" RELATED [Orphanet:1194] xref: DOID:0060331 {source="MONDO:equivalentTo"} xref: MESH:C567528 {source="MONDO:equivalentTo"} xref: OMIM:614052 {source="Orphanet:1194/e", source="DOID:0060331", source="MONDO:equivalentTo", source="Orphanet:1194"} xref: Orphanet:1194 {source="DOID:0060331", source="MONDO:equivalentTo", source="OMIM:614052"} xref: SCTID:718212006 {source="MONDO:equivalentTo"} is_a: MONDO:0000066 {source="DC-OMIM:614052"} ! mitochondrial complex deficiency property_value: exactMatch DOID:0060331 property_value: exactMatch http://identifiers.org/mesh/C567528 property_value: exactMatch http://identifiers.org/snomedct/718212006 property_value: exactMatch https://omim.org/entry/614052 property_value: exactMatch Orphanet:1194 [Term] id: MONDO:0013548 name: acetyl-CoA acetyltransferase-2 deficiency synonym: "ACAT2" RELATED ABBREVIATION [GARD:0009154] synonym: "Acat2 deficiency" RELATED [OMIM:614055] synonym: "ACAT2 deficiency, Isolated cases" EXACT [OMIM:614055, OMIM:genemap2] synonym: "ACAT2D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614055] synonym: "acetoacetyl CoA thiolase, cytosolic" RELATED [GARD:0009154] synonym: "Acetocoenzyme A acetyltransferase 2" RELATED [GARD:0009154] synonym: "Acetyl CoA acetyltransferase 2 deficiency" RELATED [GARD:0009154] synonym: "ACETYL-CoA acetyltransferase-2 deficiency" RELATED [OMIM:614055] synonym: "acetyl-CoA acetyltransferase-2 deficiency" EXACT [MONDO:Lexical, OMIM:614055] xref: MESH:C536005 {source="MONDO:equivalentTo"} xref: OMIM:614055 {source="MONDO:equivalentTo"} xref: UMLS:C0342735 {source="MONDO:equivalentTo", source="GARD:0009154", source="OMIM:614055"} is_a: EFO:0000508 {source="MESH:C536005/inferred"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C536005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342735 property_value: exactMatch https://omim.org/entry/614055 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9154/acetyl-coa-acetyltransferase-2-deficiency xsd:anyURI {source="GARD:0009154"} [Term] id: MONDO:0013549 name: N-acetylaspartate deficiency synonym: "hypoacetylaspartia" RELATED [OMIM:614063] synonym: "N-acetylaspartate deficiency" EXACT [MONDO:Lexical, OMIM:614063] synonym: "naa deficiency" RELATED [OMIM:614063] synonym: "NACED" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614063] xref: OMIM:614063 {source="MONDO:equivalentTo"} xref: UMLS:C3279716 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614063"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279716 property_value: exactMatch https://omim.org/entry/614063 [Term] id: MONDO:0013550 name: distal myopathy with posterior leg and anterior hand involvement def: "Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs." [Orphanet:63273] subset: ordo_disease {source="Orphanet:63273"} synonym: "distal ABD-filaminopathy" EXACT [Orphanet:63273] synonym: "MPD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614065] synonym: "myopathy, distal, 4" RELATED [MONDO:Lexical, OMIM:614065] synonym: "myopathy, distal, type 4" EXACT [MONDORULE:1, OMIM:614065] synonym: "Williams distal myopathy" RELATED [OMIM:614065] xref: DOID:0111190 {source="MONDO:equivalentTo"} xref: OMIM:614065 {source="Orphanet:63273/e", source="MONDO:equivalentTo", source="Orphanet:63273"} xref: Orphanet:63273 {source="MONDO:equivalentTo", source="OMIM:614065"} xref: SCTID:733489002 {source="MONDO:equivalentTo"} xref: UMLS:C3279722 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614065"} xref: UMLS:C4518807 {source="MONDO:equivalentTo"} is_a: MONDO:0016108 {source="Orphanet:63273"} ! autosomal dominant distal myopathy property_value: exactMatch DOID:0111190 property_value: exactMatch http://identifiers.org/snomedct/733489002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279722 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518807 property_value: exactMatch https://omim.org/entry/614065 property_value: exactMatch Orphanet:63273 [Term] id: MONDO:0013551 name: hereditary spastic paraplegia 47 def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4B1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "AP4B1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive spastic paraplegia 47" EXACT [DOID:0110799] synonym: "cerebral palsy, spastic quadriplegic, 5" RELATED [OMIM:614066] synonym: "cerebral palsy, spastic quadriplegic, 5, formerly" RELATED [OMIM:614066] synonym: "CPSQ5" EXACT ABBREVIATION [DOID:0110799] synonym: "hereditary spastic paraplegia 47" EXACT [] synonym: "hereditary spastic paraplegia caused by mutation in AP4B1" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 47" EXACT [DOID:0110799, MONDORULE:2] synonym: "spastic paraplegia 47, autosomal recessive" RELATED [MONDO:Lexical, OMIM:614066] synonym: "spastic quadriplegic cerebral palsy 5" EXACT [DOID:0110799] synonym: "SPG47" EXACT ABBREVIATION [DOID:0110799, MONDO:Lexical, OMIM:614066] xref: DOID:0110799 {source="MONDO:equivalentTo"} xref: NCIT:C164224 {source="MONDO:equivalentTo"} xref: OMIM:614066 {source="DOID:0110799", source="MONDO:equivalentTo"} xref: UMLS:C3279738 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614066"} is_a: MONDO:0017241 {source="Orphanet:280763/btnt"} ! AP4-related intellectual disability and spastic paraplegia property_value: exactMatch DOID:0110799 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279738 property_value: exactMatch https://omim.org/entry/614066 property_value: exactMatch NCIT:C164224 [Term] id: MONDO:0013552 name: hereditary spastic paraplegia 52 def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4S1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "AP4S1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive spastic paraplegia 52" EXACT [DOID:0110804] synonym: "cerebral palsy, spastic quadriplegic, 6" RELATED [OMIM:614067] synonym: "cerebral palsy, spastic quadriplegic, 6, formerly" RELATED [OMIM:614067] synonym: "CPSQ6" EXACT ABBREVIATION [DOID:0110804] synonym: "hereditary spastic paraplegia 52" EXACT [] synonym: "hereditary spastic paraplegia caused by mutation in AP4S1" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 52" EXACT [DOID:0110804, MONDORULE:2] synonym: "spastic paraplegia 52, autosomal recessive" RELATED [MONDO:Lexical, OMIM:614067] synonym: "spastic quadriplegic cerebral palsy 6" EXACT [DOID:0110804] synonym: "SPG52" EXACT ABBREVIATION [DOID:0110804, MONDO:Lexical, OMIM:614067] xref: DOID:0110804 {source="MONDO:equivalentTo"} xref: OMIM:614067 {source="DOID:0110804", source="MONDO:equivalentTo"} xref: UMLS:C3279743 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614067"} is_a: MONDO:0017241 {source="Orphanet:280763/btnt"} ! AP4-related intellectual disability and spastic paraplegia property_value: exactMatch DOID:0110804 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279743 property_value: exactMatch https://omim.org/entry/614067 [Term] id: MONDO:0013555 name: Hermansky-Pudlak syndrome 3 def: "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS3 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Hermansky-Pudlak syndrome 3" EXACT [MONDO:Lexical, OMIM:614072] synonym: "Hermansky-Pudlak syndrome caused by mutation in HPS3" EXACT [MONDO:design_pattern] synonym: "Hermansky-Pudlak syndrome type 3" EXACT [DOID:0060541, MONDORULE:1, OMIM:614072] synonym: "HPS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614072] synonym: "HPS3 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060541 {source="MONDO:equivalentTo"} xref: OMIM:614072 {source="DOID:0060541", source="MONDO:equivalentTo"} xref: UMLS:C3888001 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0016502 {source="Orphanet:231512/btnt"} ! Hermansky-Pudlak syndrome without pulmonary fibrosis property_value: exactMatch DOID:0060541 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888001 property_value: exactMatch https://omim.org/entry/614072 [Term] id: MONDO:0013559 name: Hermansky-Pudlak syndrome 7 def: "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_clinical_subtype {source="Orphanet:231531"} synonym: "DTNBP1 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Hermansky-Pudlak syndrome 7" EXACT [MONDO:Lexical, OMIM:614076] synonym: "Hermansky-Pudlak syndrome caused by mutation in DTNBP1" EXACT [MONDO:design_pattern] synonym: "Hermansky-Pudlak syndrome type 7" EXACT [DOID:0060545, MONDORULE:1, OMIM:614076] synonym: "HPS7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614076, Orphanet:231531] xref: DOID:0060545 {source="MONDO:equivalentTo"} xref: ICD10CM:E70.3 {source="Orphanet:231531/attributed", source="Orphanet:231531/ntbt", source="MONDO:relatedTo", source="Orphanet:231531"} xref: OMIM:614076 {source="Orphanet:231531", source="DOID:0060545", source="MONDO:equivalentTo", source="Orphanet:231531/e"} xref: Orphanet:231531 {source="MONDO:equivalentTo", source="OMIM:614076"} xref: UMLS:C3279756 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614076"} is_a: MONDO:0019312 {source="DC-OMIM:614076", source="DOID:0060545", source="MONDO:Redundant", source="OMIM:614076", source="Orphanet:231531"} ! Hermansky-Pudlak syndrome property_value: exactMatch DOID:0060545 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279756 property_value: exactMatch https://omim.org/entry/614076 property_value: exactMatch Orphanet:231531 [Term] id: MONDO:0013560 name: Hermansky-Pudlak syndrome 8 def: "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_clinical_subtype {source="Orphanet:231537"} synonym: "BLOC1S3 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Hermansky-Pudlak syndrome 8" EXACT [MONDO:Lexical, OMIM:614077] synonym: "Hermansky-Pudlak syndrome caused by mutation in BLOC1S3" EXACT [MONDO:design_pattern] synonym: "Hermansky-Pudlak syndrome type 8" EXACT [DOID:0060546, MONDORULE:1, OMIM:614077] synonym: "HPS8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614077, Orphanet:231537] xref: DOID:0060546 {source="MONDO:equivalentTo"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:231537", source="Orphanet:231537/attributed", source="Orphanet:231537/ntbt"} xref: OMIM:614077 {source="Orphanet:231537/e", source="MONDO:equivalentTo", source="DOID:0060546", source="Orphanet:231537"} xref: Orphanet:231537 {source="MONDO:equivalentObsolete", source="OMIM:614077"} xref: UMLS:C3888026 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:CN201510 {source="MONDO:equivalentTo"} is_a: MONDO:0019312 {source="DC-OMIM:614077", source="DOID:0060546", source="MONDO:Redundant", source="OMIM:614077", source="Orphanet:231537"} ! Hermansky-Pudlak syndrome property_value: exactMatch DOID:0060546 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888026 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201510 property_value: exactMatch https://omim.org/entry/614077 [Term] id: MONDO:0013561 name: chondrodysplasia with joint dislocations, gPAPP type subset: ordo_malformation_syndrome {source="Orphanet:280586"} synonym: "chondrodysplasia with joint dislocations, gPAPP type" EXACT [OMIM:614078] synonym: "gPAPP deficiency" EXACT [OMIM:614078, Orphanet:280586] xref: DOID:0112224 {source="MONDO:equivalentTo"} xref: OMIM:614078 {source="Orphanet:280586/e", source="MONDO:equivalentTo", source="Orphanet:280586"} xref: Orphanet:280586 {source="MONDO:equivalentTo", source="OMIM:614078"} xref: UMLS:C3279757 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614078"} is_a: MONDO:0019688 {source="PMID:31633310"} ! sulfation-related bone disorder property_value: exactMatch DOID:0112224 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279757 property_value: exactMatch https://omim.org/entry/614078 property_value: exactMatch Orphanet:280586 property_value: excluded_subClassOf MONDO:0019700 {source="Orphanet:280586"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0013562 name: aspergillosis, susceptibility to subset: predisposition synonym: "aspergillosis, susceptibility to" EXACT [OMIM:614079] synonym: "susceptibility to aspergillosis" RELATED [OMIM:614079] xref: OMIM:614079 {source="MONDO:equivalentTo"} is_a: MONDO:0015979 ! hereditary predisposition to infections intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: predisposes_towards EFO:0007157 ! aspergillosis relationship: predisposes_towards EFO:0007157 ! aspergillosis property_value: exactMatch https://omim.org/entry/614079 [Term] id: MONDO:0013563 name: multiple congenital anomalies-hypotonia-seizures syndrome 1 def: "Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene." [MONDO:design_pattern] subset: ordo_malformation_syndrome {source="Orphanet:280633"} synonym: "congenital disorder of glycosylation due to PIGN deficiency" EXACT [Orphanet:280633] synonym: "glycosylphosphatidylinositol biosynthesis defect 3" RELATED [OMIM:614080] synonym: "inherited GPI anchor-deficiency" EXACT [PMID:31127708] synonym: "MCAHS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614080] synonym: "multiple congenital anomalies - hypotonia - seizures syndrome" RELATED [GARD:0012781] synonym: "multiple congenital anomalies-hypotonia-seizures syndrome" RELATED [Orphanet:280633] synonym: "multiple congenital anomalies-hypotonia-seizures syndrome 1" EXACT [MONDO:Lexical, OMIM:614080] synonym: "multiple congenital anomalies-hypotonia-seizures syndrome type 1" EXACT [DOID:0080138, MONDORULE:1, OMIM:614080] synonym: "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGN" EXACT [MONDO:design_pattern] synonym: "PIGN multiple congenital anomalies/dysmorphic syndrome-intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "PIGN-CDG" EXACT [Orphanet:280633] synonym: "PIGN-related inherited GPI deficiency" NARROW [https://clinicalgenome.org/affiliation/40006/] xref: DOID:0080138 {source="MONDO:equivalentTo"} xref: NCIT:C176896 {source="MONDO:equivalentTo"} xref: OMIM:614080 {source="Orphanet:280633/e", source="MONDO:equivalentTo", source="DOID:0080138", source="Orphanet:280633"} xref: Orphanet:280633 {source="MONDO:equivalentTo", source="OMIM:614080"} xref: UMLS:C3279775 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614080"} is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0017748 {source="Orphanet:280633"} ! inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation is_a: MONDO:0100247 {source="MONDO:Redundant", source="Orphanet:280633"} ! multiple congenital anomalies-hypotonia-seizures syndrome property_value: exactMatch DOID:0080138 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279775 property_value: exactMatch https://omim.org/entry/614080 property_value: exactMatch NCIT:C176896 property_value: exactMatch Orphanet:280633 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4804 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5965 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5996 xsd:anyURI [Term] id: MONDO:0013564 name: anhaptoglobinemia synonym: "Ahaptoglobinemia" RELATED [OMIM:614081] synonym: "AHP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614081] synonym: "ANHAPTOGLOBINEMIA" RELATED ABBREVIATION [OMIM:614081] synonym: "anhaptoglobinemia" EXACT [MONDO:Lexical, OMIM:614081, OMIM:genemap2] synonym: "hypohaptoglobinemia" EXACT [OMIM:614081, OMIM:genemap2] xref: OMIM:614081 {source="MONDO:equivalentTo"} xref: UMLS:C3279786 {source="MONDO:equivalentTo", source="OMIM:614081", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279786 property_value: exactMatch https://omim.org/entry/614081 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013566 name: Fanconi anemia complementation group L def: "Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene." [MONDO:patterns/disease_series_by_gene] synonym: "FANCL" EXACT ABBREVIATION [DOID:0111082, MONDO:Lexical, OMIM:614083] synonym: "FANCL Fanconi anaemia" EXACT OMO:0003005 [] synonym: "FANCL Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Fanconi anaemia caused by mutation in FANCL" EXACT OMO:0003005 [] synonym: "Fanconi anaemia complementation group type L" EXACT OMO:0003005 [] synonym: "Fanconi anemia caused by mutation in FANCL" EXACT [MONDO:design_pattern] synonym: "Fanconi anemia complementation group L" EXACT [] synonym: "Fanconi anemia complementation group type L" EXACT [DOID:0111082, MONDORULE:1] synonym: "Fanconi Anemia, complementation Group 50" RELATED [OMIM:614083] synonym: "Fanconi anemia, complementation group L" RELATED [MONDO:Lexical, OMIM:614083] synonym: "Fanconi Anemia, complementation group type 50" EXACT [MONDORULE:2, OMIM:614083] xref: DOID:0111082 {source="MONDO:equivalentTo"} xref: OMIM:614083 {source="DOID:0111082", source="MONDO:equivalentTo"} is_a: MONDO:0019391 {source="DC-OMIM:614083", source="DOID:0111082", source="MONDO:Redundant", source="OMIM:614083"} ! Fanconi anemia property_value: exactMatch DOID:0111082 property_value: exactMatch https://omim.org/entry/614083 [Term] id: MONDO:0013570 name: combined oxidative phosphorylation defect type 8 def: "Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement." [Orphanet:319504] subset: ordo_disease {source="Orphanet:319504"} synonym: "AARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "cardiomyopathy, hypertrophic mitochondrial, fatal infantile" RELATED [OMIM:614096] synonym: "combined oxidative phosphorylation deficiency 8" RELATED [MONDO:Lexical, OMIM:614096] synonym: "combined oxidative phosphorylation deficiency caused by mutation in AARS2" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 8" EXACT [MONDORULE:1, OMIM:614096] synonym: "COXPD8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614096, Orphanet:319504] xref: DOID:0111479 {source="MONDO:equivalentTo"} xref: OMIM:614096 {source="Orphanet:319504", source="MONDO:equivalentTo", source="Orphanet:319504/e"} xref: Orphanet:319504 {source="MONDO:equivalentTo", source="OMIM:614096"} xref: SCTID:733600007 {source="MONDO:equivalentTo"} xref: UMLS:C3279793 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614096"} xref: UMLS:C4518839 {source="MONDO:equivalentTo"} is_a: MONDO:0000732 {source="DC-OMIM:614096", source="MONDO:Redundant", source="OMIM:614096"} ! combined oxidative phosphorylation deficiency property_value: exactMatch DOID:0111479 property_value: exactMatch http://identifiers.org/snomedct/733600007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279793 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518839 property_value: exactMatch https://omim.org/entry/614096 property_value: exactMatch Orphanet:319504 [Term] id: MONDO:0013572 name: Keppen-Lubinsky syndrome subset: ordo_malformation_syndrome {source="Orphanet:435628"} synonym: "generalised lipodystrophy-progeroid features-severe intellectual disability syndrome" EXACT OMO:0003005 [] synonym: "generalized lipodystrophy-progeroid features-severe intellectual disability syndrome" EXACT [Orphanet:435628] synonym: "KEPPEN-Lubinsky syndrome" RELATED [OMIM:614098] synonym: "Keppen-Lubinsky syndrome" EXACT [MONDO:Lexical, OMIM:614098] synonym: "KPLBS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614098] xref: OMIM:614098 {source="MONDO:equivalentTo", source="Orphanet:435628", source="Orphanet:435628/e"} xref: Orphanet:435628 {source="MONDO:equivalentTo"} xref: UMLS:C3279800 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614098"} is_a: MONDO:0020087 {source="Orphanet:435628"} ! hereditary lipodystrophy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279800 property_value: exactMatch https://omim.org/entry/614098 property_value: exactMatch Orphanet:435628 [Term] id: MONDO:0013574 name: cutis laxa - Marfanoid syndrome subset: ordo_malformation_syndrome {source="Orphanet:171719"} synonym: "cutis laxa - Marfanoid syndrome" EXACT [OMIM:614100] synonym: "cutis laxa, neonatal, with MARFANOID phenotype" RELATED [OMIM:614100] xref: MESH:C563639 {source="MONDO:equivalentTo"} xref: OMIM:614100 {source="MONDO:equivalentTo", source="Orphanet:171719", source="Orphanet:171719/e"} xref: Orphanet:171719 {source="MONDO:equivalentTo", source="OMIM:614100"} xref: SCTID:254221009 {source="MONDO:equivalentTo"} xref: UMLS:C0432335 {source="MONDO:equivalentTo", source="Orphanet:171719", source="Orphanet:171719/e", source="OMIM:614100"} is_a: MONDO:0019755 {source="MONDO:0015332-obsoleted"} ! developmental defect during embryogenesis property_value: exactMatch http://identifiers.org/mesh/C563639 property_value: exactMatch http://identifiers.org/snomedct/254221009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432335 property_value: exactMatch https://omim.org/entry/614100 property_value: exactMatch Orphanet:171719 [Term] id: MONDO:0013576 name: recurrent infections associated with rare immunoglobulin isotypes deficiency def: "Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections." [Orphanet:183675] subset: ordo_disease {source="Orphanet:183675"} synonym: "IgG subclass deficiency with IgA subclass deficiency" EXACT [Orphanet:183675] synonym: "IGKCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614102] synonym: "IMMUNOGLOBULIN kappa LIGHT chain deficiency" RELATED [MONDO:Lexical, OMIM:614102] synonym: "isolated IgG subclass deficiency" EXACT [Orphanet:183675] synonym: "kappa chain deficiency" RELATED [OMIM:614102] synonym: "kappa light chain deficiency" EXACT [OMIM:614102, OMIM:genemap2] synonym: "kappa-chain deficiency" EXACT [Orphanet:183675] synonym: "recurrent infections associated with rare immunoglobulin isotypes deficiency" EXACT [] synonym: "selective IgG subclass deficiency" RELATED [Orphanet:183675] xref: MESH:C564131 {source="MONDO:equivalentTo"} xref: OMIM:614102 {source="Orphanet:183675/e", source="MONDO:equivalentTo", source="Orphanet:183675"} xref: Orphanet:183675 {source="OMIM:614102", source="MONDO:equivalentTo"} xref: UMLS:C3279824 {source="OMIM:614102", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:183675"} is_a: MONDO:0015132 {source="MONDO:0018038-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! immunodeficiency predominantly affecting antibody production property_value: exactMatch http://identifiers.org/mesh/C564131 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279824 property_value: exactMatch https://omim.org/entry/614102 property_value: exactMatch Orphanet:183675 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013577 name: Lipedema def: "Disorder of adipose tissue characterized by symmetric and bilateral enlargement of the lower extremities due to abnormal deposition of subcutaneous fat often in obese women. It is associated with hematoma, pain and may progress to secondary lymphedema which is known as lipolymphedema." [MESH:D065134] subset: ordo_disease {source="Orphanet:77243"} synonym: "lipedema" EXACT [MONDO:ambiguous] synonym: "Lipedema (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0100695 {source="MONDO:otherHierarchy"} xref: MedDRA:10063955 {source="Orphanet:77243/e", source="Orphanet:77243"} xref: MESH:D065134 {source="MONDO:equivalentTo"} xref: OMIM:614103 {source="Orphanet:77243/e", source="MONDO:equivalentTo", source="Orphanet:77243"} xref: Orphanet:77243 {source="OMIM:614103", source="MONDO:equivalentObsolete"} xref: SCTID:234102003 {source="MONDO:equivalentTo"} xref: UMLS:C0020473 {source="MONDO:relatedTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019296 {source="Orphanet:77243"} ! subcutaneous tissue disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0015949"} ! rare property_value: closeMatch http://identifiers.org/meddra/10063955 property_value: exactMatch http://identifiers.org/mesh/D065134 property_value: exactMatch http://identifiers.org/snomedct/234102003 property_value: exactMatch https://omim.org/entry/614103 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000589 "Lipedema (disease)" xsd:string [Term] id: MONDO:0013578 name: DYRK1A-related intellectual disability syndrome def: "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13." [DOID:0070037] subset: ordo_malformation_syndrome {source="Orphanet:464306"} synonym: "autosomal dominant intellectual disability 7" EXACT [DOID:0070037] synonym: "autosomal dominant mental retardation 7" EXACT DEPRECATED [DOID:0070037] synonym: "autosomal dominant non-syndromic intellectual disability 7" RELATED [DOID:0070037] synonym: "intellectual disability, autosomal dominant 7" RELATED [MONDO:Lexical, OMIM:614104] synonym: "intellectual disability, autosomal dominant type 7" EXACT [MONDORULE:1, OMIM:614104] synonym: "mental retardation, autosomal dominant 7" RELATED DEPRECATED [MONDO:Lexical, OMIM:614104] synonym: "mental retardation, autosomal dominant type 7" EXACT DEPRECATED [MONDORULE:1, OMIM:614104] synonym: "MRD7" EXACT ABBREVIATION [DOID:0070037, MONDO:Lexical, OMIM:614104] xref: DOID:0070037 {source="MONDO:equivalentTo"} xref: OMIM:614104 {source="MONDO:equivalentTo", source="DOID:0070037", source="Orphanet:464306", source="Orphanet:464306/e"} xref: Orphanet:464306 {source="MONDO:equivalentTo"} xref: UMLS:C3279839 {source="OMIM:614104", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:464306", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:464306"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0100172 ! intellectual disability, autosomal dominant property_value: exactMatch DOID:0070037 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279839 property_value: exactMatch https://omim.org/entry/614104 property_value: exactMatch Orphanet:464306 property_value: excluded_subClassOf MONDO:0015802 {source="DOID:0070037"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0013579 name: methylmalonate semialdehyde dehydrogenase deficiency subset: ordo_disease {source="Orphanet:289307"} synonym: "developmental delay due to ALDH6A1 deficiency" EXACT [Orphanet:289307] synonym: "developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency" EXACT [https://orcid.org/0000-0002-5655-9589] synonym: "developmental delay due to MMSDH deficiency" EXACT [Orphanet:289307] synonym: "methylmalonate semialdehyde dehydrogenase deficiency" EXACT [MONDO:Lexical, OMIM:614105] synonym: "MMSDH deficiency" RELATED [OMIM:614105] synonym: "MMSDHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614105] xref: MESH:C566402 {source="MONDO:equivalentTo"} xref: OMIM:614105 {source="MONDO:equivalentTo", source="Orphanet:289307", source="Orphanet:289307/e"} xref: Orphanet:289307 {source="OMIM:614105", source="MONDO:equivalentTo"} xref: UMLS:C3279840 {source="OMIM:614105", source="MONDO:equivalentTo", source="Orphanet:289307"} is_a: MONDO:0000688 {source="PMID:33340416"} ! inborn organic aciduria is_a: MONDO:0019242 {source="Orphanet:289307"} ! inborn disorder of branched-chain amino acid metabolism property_value: exactMatch http://identifiers.org/mesh/C566402 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279840 property_value: exactMatch https://omim.org/entry/614105 property_value: exactMatch Orphanet:289307 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0013580 name: pyruvate dehydrogenase E1-beta deficiency def: "Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia." [Orphanet:255138] subset: ordo_clinical_subtype {source="Orphanet:255138"} synonym: "PDHBD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614111, Orphanet:255138] synonym: "pyruvate dehydrogenase complex E1 component subunit beta deficiency" EXACT [Orphanet:255138] synonym: "pyruvate dehydrogenase E1-BETA deficiency" RELATED [OMIM:614111] synonym: "pyruvate dehydrogenase E1-beta deficiency" EXACT [MONDO:Lexical, OMIM:614111] xref: MESH:C566729 {source="MONDO:equivalentTo"} xref: OMIM:614111 {source="MONDO:equivalentTo", source="Orphanet:255138", source="Orphanet:255138/e"} xref: Orphanet:255138 {source="MONDO:equivalentTo", source="OMIM:614111"} xref: UMLS:C3279841 {source="MONDO:equivalentTo", source="Orphanet:255138", source="OMIM:614111"} is_a: MONDO:0019169 {source="DC-OMIM:614111", source="OMIM:614111", source="Orphanet:255138"} ! pyruvate dehydrogenase deficiency property_value: exactMatch http://identifiers.org/mesh/C566729 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279841 property_value: exactMatch https://omim.org/entry/614111 property_value: exactMatch Orphanet:255138 [Term] id: MONDO:0013583 name: occipital pachygyria and polymicrogyria subset: ordo_malformation_syndrome {source="Orphanet:280640"} synonym: "cortical malformations, occipital" RELATED [MONDO:Lexical, OMIM:614115] synonym: "occipital malformations of cortical development" EXACT [Orphanet:280640] synonym: "occipital MCD" EXACT [Orphanet:280640] synonym: "OCCM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614115] xref: OMIM:614115 {source="Orphanet:280640/e", source="MONDO:equivalentTo", source="Orphanet:280640"} xref: Orphanet:280640 {source="OMIM:614115", source="MONDO:equivalentTo"} xref: UMLS:C3279875 {source="OMIM:614115", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0016054 {source="Orphanet:280640"} ! cerebral malformation property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279875 property_value: exactMatch https://omim.org/entry/614115 property_value: exactMatch Orphanet:280640 [Term] id: MONDO:0013584 name: hereditary sensory neuropathy-deafness-dementia syndrome def: "A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13." [DOID:0070158] subset: ordo_disease {source="Orphanet:456318"} synonym: "DNMT1-related dementia, deafness, and sensory neuropathy" RELATED [GARD:0011927] synonym: "hereditary sensory and autonomic neuropathy type 1E" RELATED [GARD:0011927] synonym: "hereditary sensory neuropathy type 1E" RELATED [DOID:0070158] synonym: "hereditary sensory neuropathy type IE" EXACT [DOID:0070158] synonym: "hereditary sensory neuropathy with hearing loss and dementia" RELATED [GARD:0011927] synonym: "hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome" EXACT [Orphanet:456318] synonym: "HSAN1E" EXACT ABBREVIATION [Orphanet:456318] synonym: "HSN 1E" RELATED [OMIM:614116] synonym: "HSN1E" EXACT ABBREVIATION [DOID:0070158, MONDO:Lexical, OMIM:614116, Orphanet:456318] synonym: "HSNIE" RELATED ABBREVIATION [GARD:0011927] synonym: "neuropathy, hereditary sensory, type 1E" RELATED [OMIM:614116] synonym: "neuropathy, hereditary sensory, type IE" RELATED [MONDO:Lexical, OMIM:614116] synonym: "neuropathy, hereditary sensory, with hearing loss and dementia" RELATED [OMIM:614116] xref: DOID:0070158 {source="MONDO:equivalentTo"} xref: MESH:C580162 {source="MONDO:equivalentTo"} xref: OMIM:614116 {source="MONDO:equivalentTo", source="Orphanet:456318", source="DOID:0070158", source="Orphanet:456318/e"} xref: Orphanet:456318 {source="MONDO:equivalentTo", source="DOID:0070158"} xref: UMLS:C3279885 {source="OMIM:614116", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0003406 {source="Orphanet:456318"} ! sleep-wake disorder is_a: MONDO:0015547 {source="MONDO:Redundant", source="Orphanet:456318", source="Orphanet:456318/inferred"} ! hereditary dementia is_a: MONDO:0018213 {source="MONDO:cjm"} ! hereditary sensory and autonomic neuropathy type 1 is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:456318", source="Orphanet:456318/inferred"} ! inherited neurodegenerative disorder property_value: exactMatch DOID:0070158 property_value: exactMatch http://identifiers.org/mesh/C580162 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279885 property_value: exactMatch https://omim.org/entry/614116 property_value: exactMatch Orphanet:456318 [Term] id: MONDO:0013585 name: hydrolethalus syndrome 2 def: "Any hydrolethalus syndrome in which the cause of the disease is a mutation in the KIF7 gene." [MONDO:patterns/disease_series_by_gene] synonym: "HLS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614120] synonym: "hydrolethalus syndrome 2" EXACT [MONDO:Lexical, OMIM:614120] synonym: "hydrolethalus syndrome caused by mutation in KIF7" EXACT [MONDO:design_pattern] synonym: "hydrolethalus syndrome type 2" EXACT [MONDORULE:1, OMIM:614120] synonym: "KIF7 hydrolethalus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111356 {source="MONDO:equivalentTo"} xref: OMIM:614120 {source="MONDO:equivalentTo"} xref: UMLS:C3279899 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614120"} is_a: MONDO:0006037 {source="DC-OMIM:614120", source="MONDO:Redundant", source="OMIM:614120"} ! hydrolethalus syndrome property_value: exactMatch DOID:0111356 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279899 property_value: exactMatch https://omim.org/entry/614120 [Term] id: MONDO:0013586 name: obsolete Chitotriosidase deficiency comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none synonym: "CHITD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614122] synonym: "CHITOTRIOSIDASE deficiency" RELATED [OMIM:614122] synonym: "Chitotriosidase deficiency" EXACT [MONDO:Lexical, OMIM:614122] synonym: "chitotriosidase deficiency" EXACT [OMIM:614122, OMIM:genemap2] xref: OMIM:614122 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C3279902 {source="MONDO:obsoleteEquivalent", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614122"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279902 property_value: exactMatch https://omim.org/entry/614122 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3637 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI is_obsolete: true [Term] id: MONDO:0013587 name: glycogen storage disease due to lactate dehydrogenase H-subunit deficiency def: "A condition that affects how the body breaks down sugar to use as energy in muscle cells. Unlike people with lactate dehydrogenase A deficiency, people with this condition typically do not have any signs or symptoms. It is unclear why this condition does not cause any health problems. Affected people are usually diagnosed when routine blood tests reveal reduced activity of the enzyme lactate dehydrogenase. LDHBD is caused by mutations in the LDHB gene and is inherited in an autosomal recessive manner." [GARD:0003161] subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:284435"} synonym: "glycogenosis due to lactate dehydrogenase H-subunit deficiency" EXACT [Orphanet:284435] synonym: "GSD due to lactate dehydrogenase H-subunit deficiency" EXACT [Orphanet:284435] synonym: "lactate dehydrogenase B deficiency" EXACT [MONDO:Lexical, OMIM:614128, Orphanet:284435] synonym: "lactate dehydrogenase deficiency type B" RELATED [GARD:0003161] synonym: "lactate dehydrogenase-B deficiency" EXACT [OMIM:614128, OMIM:genemap2] synonym: "LDH deficiency B" RELATED [GARD:0003161] synonym: "LDH-H subunit deficiency" EXACT [Orphanet:284435] synonym: "LDHBD" RELATED ABBREVIATION [GARD:0003161, MONDO:Lexical, OMIM:614128] xref: MESH:C563641 {source="MONDO:equivalentTo"} xref: OMIM:614128 {source="Orphanet:284435/e", source="MONDO:equivalentTo", source="GARD:0003161", source="Orphanet:284435"} xref: Orphanet:284435 {source="OMIM:614128", source="MONDO:equivalentTo"} xref: UMLS:C3279904 {source="OMIM:614128", source="MONDO:equivalentTo", source="Orphanet:284435"} is_a: MONDO:0016527 {source="Orphanet:284435"} ! glycogen storage disease due to lactate dehydrogenase deficiency is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis property_value: exactMatch http://identifiers.org/mesh/C563641 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279904 property_value: exactMatch https://omim.org/entry/614128 property_value: exactMatch Orphanet:284435 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3161/lactate-dehydrogenase-b-deficiency xsd:anyURI {source="GARD:0003161"} [Term] id: MONDO:0013594 name: spinocerebellar ataxia type 36 def: "Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." [Orphanet:276198] subset: ordo_disease {source="Orphanet:276198"} synonym: "Asidan" EXACT [Orphanet:276198] synonym: "SCA36" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614153, Orphanet:276198] synonym: "spinocerebellar ataxia 36" RELATED [MONDO:Lexical, OMIM:614153] synonym: "spinocerebellar ataxia type 36" EXACT [MONDORULE:2, OMIM:614153] xref: DOID:0050983 {source="MONDO:equivalentTo"} xref: NCIT:C148316 {source="MONDO:equivalentTo"} xref: OMIM:614153 {source="Orphanet:276198", source="DOID:0050983", source="MONDO:equivalentTo", source="Orphanet:276198/e"} xref: Orphanet:276198 {source="MONDO:equivalentTo", source="OMIM:614153"} xref: SCTID:711158005 {source="MONDO:equivalentTo"} xref: UMLS:C3472711 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614153"} is_a: MONDO:0019792 {source="Orphanet:276198"} ! autosomal dominant cerebellar ataxia type I property_value: exactMatch DOID:0050983 property_value: exactMatch http://identifiers.org/snomedct/711158005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3472711 property_value: exactMatch https://omim.org/entry/614153 property_value: exactMatch NCIT:C148316 property_value: exactMatch Orphanet:276198 [Term] id: MONDO:0013595 name: hyperbiliverdinemia def: "Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported." [Orphanet:276405] subset: ordo_disease {source="Orphanet:276405"} synonym: "green jaundice" EXACT [OMIM:614156, Orphanet:276405] synonym: "HBLVD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614156] synonym: "hyperbiliverdinemia" EXACT [MONDO:Lexical, OMIM:614156] xref: OMIM:614156 {source="Orphanet:276405/e", source="MONDO:equivalentTo", source="Orphanet:276405"} xref: Orphanet:276405 {source="OMIM:614156", source="MONDO:equivalentTo"} xref: UMLS:C3279964 {source="OMIM:614156", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0001421 {source="Orphanet:276405"} ! liver disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015507"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279964 property_value: exactMatch https://omim.org/entry/614156 property_value: exactMatch Orphanet:276405 [Term] id: MONDO:0013598 name: myostatin-related muscle hypertrophy def: "Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. This condition is not known to cause any medical problems, and affected individuals are intellectually normal. Myostatin-related muscle hypertrophy is caused by mutations in the MSTN gene. It follows an incomplete autosomal dominant pattern of inheritance." [https://rarediseases.info.nih.gov/diseases/10238/myostatin-related-muscle-hypertrophy] subset: gard_rare {source="GARD:0010238"} subset: ordo_disease {source="Orphanet:275534"} synonym: "MSLHP" EXACT ABBREVIATION [DOID:0111072, MONDO:Lexical, OMIM:614160] synonym: "muscle hypertrophy" RELATED [MONDO:Lexical, OMIM:614160] xref: DOID:0111072 {source="MONDO:equivalentTo"} xref: HGNC:4223 {source="GARD:0010238"} xref: ICD9:756.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536106 {source="MONDO:equivalentTo"} xref: OMIM:614160 {source="DOID:0111072", source="MONDO:equivalentTo", source="Orphanet:275534", source="Orphanet:275534/e"} xref: Orphanet:275534 {source="DOID:0111072", source="MONDO:equivalentObsolete", source="OMIM:614160"} xref: SCTID:699185005 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="Orphanet:275534"} ! genetic disorder is_a: MONDO:0003939 {source="DOID:0111072"} ! muscle tissue disorder relationship: disease_has_feature MONDO:0013598 {source="MONDO:Wikidata"} ! myostatin-related muscle hypertrophy property_value: exactMatch DOID:0111072 property_value: exactMatch http://identifiers.org/mesh/C536106 property_value: exactMatch http://identifiers.org/snomedct/699185005 property_value: exactMatch https://omim.org/entry/614160 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10238/myostatin-related-muscle-hypertrophy xsd:anyURI {source="GARD:0010238"} [Term] id: MONDO:0013599 name: autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome def: "Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia." [Orphanet:391487] subset: ordo_disease {source="Orphanet:391487"} subset: predisposition synonym: "CANDF7" RELATED ABBREVIATION [GARD:0012314] synonym: "candidiasis familial chronic mucocutaneous, autosomal dominant" RELATED [GARD:0012314] synonym: "candidiasis familial, 7" RELATED [GARD:0012314] synonym: "candidiasis, familial chronic mucocutaneous, autosomal dominant" RELATED [OMIM:614162] synonym: "candidiasis, familial, 7" RELATED [OMIM:614162] synonym: "familial chronic mucocutaneous, autosomal dominant" RELATED [GARD:0012314] synonym: "IMD31C" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614162] synonym: "immunodeficiency 31C" RELATED [MONDO:Lexical, OMIM:614162] synonym: "immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant" EXACT [OMIM:614162, OMIM:genemap2] synonym: "immunodeficiency type 31C" EXACT [MONDORULE:4, OMIM:614162] xref: DOID:0111946 {source="MONDO:equivalentTo"} xref: OMIM:614162 {source="Orphanet:391487/e", source="MONDO:equivalentTo", source="Orphanet:391487"} xref: Orphanet:391487 {source="MONDO:equivalentTo"} xref: UMLS:C3279990 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614162"} is_a: MONDO:0000569 ! autoimmune disorder of endocrine system is_a: MONDO:0015126 {source="Orphanet:391487"} ! polyendocrinopathy is_a: MONDO:0015279 ! chronic mucocutaneous candidiasis is_a: MONDO:0019787 {source="Orphanet:391487"} ! autoimmune enteropathy property_value: exactMatch DOID:0111946 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279990 property_value: exactMatch https://omim.org/entry/614162 property_value: exactMatch Orphanet:391487 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013606 name: Hermansky-Pudlak syndrome 9 def: "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_clinical_subtype {source="Orphanet:280663"} synonym: "BLOC1S6 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Hermansky-Pudlak syndrome 9" EXACT [MONDO:Lexical, OMIM:614171] synonym: "Hermansky-Pudlak syndrome caused by mutation in BLOC1S6" EXACT [MONDO:design_pattern] synonym: "Hermansky-Pudlak syndrome type 9" EXACT [DOID:0060547, MONDORULE:1, OMIM:614171] synonym: "HPS9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614171, Orphanet:280663] xref: DOID:0060547 {source="MONDO:equivalentTo"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:280663", source="Orphanet:280663/attributed", source="Orphanet:280663/ntbt"} xref: OMIM:614171 {source="Orphanet:280663/e", source="MONDO:equivalentTo", source="DOID:0060547", source="Orphanet:280663"} xref: Orphanet:280663 {source="MONDO:equivalentObsolete", source="OMIM:614171"} xref: UMLS:C3280026 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614171"} is_a: MONDO:0015541 ! hereditary hemophagocytic lymphohistiocytosis is_a: MONDO:0019312 {source="DC-OMIM:614171", source="DOID:0060547", source="MONDO:Redundant", source="OMIM:614171", source="Orphanet:280663"} ! Hermansky-Pudlak syndrome property_value: exactMatch DOID:0060547 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280026 property_value: exactMatch https://omim.org/entry/614171 [Term] id: MONDO:0013607 name: monocytopenia with susceptibility to infections subset: ordo_disease {source="Orphanet:228423"} subset: predisposition synonym: "combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections" EXACT [Orphanet:228423] synonym: "combined immunodeficiency with susceptibility to mycobacterial, viral, and fungal infections" RELATED [OMIM:614172] synonym: "DCML" RELATED ABBREVIATION [GARD:0010934] synonym: "Dendritic cell, monocyte, B and NK lymphoid deficiency" EXACT [Orphanet:228423] synonym: "Dendritic cell, monocyte, B lymphocyte, and natural Killer lymphocyte deficiency" RELATED [OMIM:614172] synonym: "GATA2 deficiency" RELATED [OMIM:614172] synonym: "IMD21" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614172] synonym: "immunodeficiency 21" RELATED [MONDO:Lexical, OMIM:614172] synonym: "immunodeficiency type 21" EXACT [MONDORULE:2, OMIM:614172] synonym: "monocyte - B - natural killer - dendritic cell deficiency" RELATED [GARD:0010934] synonym: "monocyte-B-natural killer-dendritic cell deficiency syndrome" EXACT [Orphanet:228423] synonym: "monocytopenia and mycobacterial infection syndrome" EXACT [OMIM:614172, Orphanet:228423] synonym: "monocytopenia with susceptibility to mycobacterial, fungal, and Papillomavirus infections and myelodysplasia" RELATED [OMIM:614172] synonym: "MonoMAC" EXACT [Orphanet:228423] xref: DOID:0111947 {source="MONDO:equivalentTo"} xref: OMIM:614172 {source="Orphanet:228423/e", source="MONDO:equivalentTo", source="Orphanet:228423"} xref: Orphanet:228423 {source="MONDO:equivalentTo", source="OMIM:614172"} xref: UMLS:C3280030 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614172"} is_a: MONDO:0015133 {source="Orphanet:228423"} ! quantitative and/or qualitative congenital phagocyte defect is_a: MONDO:0042982 {source="https://github.com/monarch-initiative/mondo/issues/261"} ! GATA2 deficiency with susceptibility to MDS/AML property_value: exactMatch DOID:0111947 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280030 property_value: exactMatch https://omim.org/entry/614172 property_value: exactMatch Orphanet:228423 [Term] id: MONDO:0013614 name: hypertelorism-preauricular sinus-punctual pits-deafness syndrome subset: ordo_malformation_syndrome {source="Orphanet:293958"} synonym: "HPPD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614187, Orphanet:293958] synonym: "hypertelorism, preauricular sinus, punctal pits, and deafness" RELATED [MONDO:Lexical, OMIM:614187] synonym: "hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome" EXACT [Orphanet:293958] xref: OMIM:614187 {source="Orphanet:293958", source="MONDO:equivalentTo", source="Orphanet:293958/e"} xref: Orphanet:293958 {source="MONDO:equivalentTo", source="OMIM:614187"} xref: UMLS:C3280065 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614187"} is_a: EFO:0000508 {source="Orphanet:293958/inferred"} ! genetic disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280065 property_value: exactMatch https://omim.org/entry/614187 property_value: exactMatch Orphanet:293958 [Term] id: MONDO:0013615 name: craniosynostosis and dental anomalies subset: ordo_malformation_syndrome {source="Orphanet:284149"} synonym: "craniosynostosis and dental anomalies" EXACT [MONDO:Lexical, OMIM:614188] synonym: "craniosynostosis-dental anomalies" RELATED [Orphanet:284149] synonym: "CRSDA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614188] synonym: "Kreiborg-Pakistani syndrome" EXACT [OMIM:614188, Orphanet:284149] xref: OMIM:614188 {source="Orphanet:284149/e", source="MONDO:equivalentTo", source="Orphanet:284149"} xref: Orphanet:284149 {source="MONDO:equivalentTo", source="OMIM:614188"} xref: UMLS:C3280073 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614188"} is_a: MONDO:0015338 {source="Orphanet:284149"} ! syndromic craniosynostosis property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280073 property_value: exactMatch https://omim.org/entry/614188 property_value: exactMatch Orphanet:284149 [Term] id: MONDO:0013618 name: craniofacial anomalies and anterior segment dysgenesis syndrome synonym: "CAASDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614195] synonym: "craniofacial anomalies and anterior segment dysgenesis syndrome" EXACT [MONDO:Lexical, OMIM:614195] xref: OMIM:614195 {source="MONDO:equivalentTo"} xref: UMLS:C3280099 {source="MONDO:equivalentTo", source="OMIM:614195"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280099 property_value: exactMatch https://omim.org/entry/614195 [Term] id: MONDO:0013621 name: LAMB2-related infantile-onset nephrotic syndrome def: "LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal." [Orphanet:306507] subset: ordo_disease {source="Orphanet:306507"} synonym: "nephrotic syndrome, type 5, with or without ocular abnormalities" RELATED [MONDO:Lexical, OMIM:614199] synonym: "NPHS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614199] xref: DOID:0080380 {source="MONDO:equivalentTo"} xref: OMIM:614199 {source="Orphanet:306507", source="MONDO:equivalentTo", source="Orphanet:306507/e"} xref: Orphanet:306507 {source="MONDO:equivalentObsolete", source="OMIM:614199"} xref: UMLS:C3280113 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614199"} is_a: MONDO:0002350 {source="OMIM:614199"} ! familial nephrotic syndrome property_value: exactMatch DOID:0080380 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280113 property_value: exactMatch https://omim.org/entry/614199 [Term] id: MONDO:0013622 name: platelet-type bleeding disorder 9 def: "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ITGA2 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_etiological_subtype {source="Orphanet:98886"} synonym: "BDPLT9" EXACT ABBREVIATION [DOID:0111045, MONDO:Lexical, OMIM:614200] synonym: "bleeding diathesis due to integrin alpha2-beta1 deficiency" RELATED [Orphanet:98886] synonym: "bleeding disorder, platelet-type, 9" RELATED [MONDO:Lexical, OMIM:614200] synonym: "collagen platelet receptor deficiency" EXACT [DOID:0111045] synonym: "glycoprotein Ia deficiency" EXACT [DOID:0111045] synonym: "GP Ia deficiency" EXACT [DOID:0111045, OMIM:614200] synonym: "inherited bleeding disorder, platelet-type caused by mutation in ITGA2" EXACT [MONDO:design_pattern] synonym: "ITGA2 inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111045 {source="MONDO:equivalentTo"} xref: MESH:C566000 {source="MONDO:equivalentTo"} xref: OMIM:614200 {source="Orphanet:98886", source="MONDO:equivalentTo", source="Orphanet:98886/e", source="DOID:0111045"} xref: Orphanet:98886 {source="OMIM:614200", source="MONDO:equivalentTo", source="DOID:0111045"} is_a: MONDO:0019138 {source="Orphanet:98886"} ! bleeding diathesis due to a collagen receptor defect property_value: exactMatch DOID:0111045 property_value: exactMatch http://identifiers.org/mesh/C566000 property_value: exactMatch https://omim.org/entry/614200 property_value: exactMatch Orphanet:98886 [Term] id: MONDO:0013623 name: platelet-type bleeding disorder 11 def: "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the GP6 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_etiological_subtype {source="Orphanet:98885"} synonym: "BDPLT11" EXACT ABBREVIATION [DOID:0111057, MONDO:Lexical, OMIM:614201] synonym: "bleeding diathesis due to glycoprotein VI deficiency" RELATED [Orphanet:98885] synonym: "bleeding disorder, platelet-type, 11" RELATED [MONDO:Lexical, OMIM:614201] synonym: "glycoprotein 6 deficiency" RELATED [OMIM:614201] synonym: "glycoprotein VI deficiency" EXACT [DOID:0111057] synonym: "GP 6 deficiency" RELATED [OMIM:614201] synonym: "GP VI deficiency" EXACT [DOID:0111057] synonym: "GP6 inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "inherited bleeding disorder, platelet-type caused by mutation in GP6" EXACT [MONDO:design_pattern] synonym: "platelet-type bleeding disorder 11" EXACT [] synonym: "platelet-type bleeding disorder-11" RELATED [GARD:0013293] xref: DOID:0111057 {source="MONDO:equivalentTo"} xref: OMIM:614201 {source="Orphanet:98885", source="MONDO:equivalentTo", source="Orphanet:98885/e", source="DOID:0111057"} xref: Orphanet:98885 {source="OMIM:614201", source="MONDO:equivalentTo", source="DOID:0111057"} xref: SCTID:765977002 {source="MONDO:equivalentTo"} xref: UMLS:C3280120 {source="OMIM:614201", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019138 {source="Orphanet:98885"} ! bleeding diathesis due to a collagen receptor defect property_value: exactMatch DOID:0111057 property_value: exactMatch http://identifiers.org/snomedct/765977002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280120 property_value: exactMatch https://omim.org/entry/614201 property_value: exactMatch Orphanet:98885 [Term] id: MONDO:0013626 name: psoriasis 14, pustular def: "Any psoriasis in which the cause of the disease is a mutation in the IL36RN gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:404546", source="Orphanet:163931", source="Orphanet:247353"} synonym: "acrodermatitis continua of Hallopeau" EXACT [OMIM:614204] synonym: "acrodermatitis continua suppurativa of Hallopeau" EXACT [OMIM:614204] synonym: "deficiency of IL-36R antagonist" EXACT [Orphanet:404546] synonym: "deficiency of IL-36Ra" EXACT [Orphanet:404546] synonym: "deficiency of the interleukin-36 receptor antagonist" EXACT [NCIT:C119057] synonym: "DITRA" EXACT ABBREVIATION [NCIT:C119057, OMIM:614204] synonym: "familial generalised pustular psoriasis" EXACT OMO:0003005 [] synonym: "familial generalized pustular psoriasis" EXACT [NCIT:C119057] synonym: "generalised pustular psoriasis" RELATED OMO:0003005 [] synonym: "generalized pustular psoriasis" RELATED [OMIM:614204] synonym: "GPP" RELATED ABBREVIATION [OMIM:614204, Orphanet:247353] synonym: "IL36RN psoriasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Interleukin 36 receptor antagonist deficiency" EXACT [OMIM:614204] synonym: "palmoplantar pustulosis" BROAD [OMIM:614204] synonym: "psoriasis 14, pustular" EXACT [MONDO:Lexical, OMIM:614204] synonym: "psoriasis caused by mutation in IL36RN" EXACT [MONDO:design_pattern] synonym: "PSORP" EXACT ABBREVIATION [NCIT:C119057, OMIM:614204] synonym: "PSORS14" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614204] xref: DOID:0080474 {source="MONDO:equivalentTo"} xref: ICD9:696.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C119057 {source="MONDO:equivalentTo"} xref: OMIM:614204 {source="Orphanet:404546", source="Orphanet:404546/ntbt", source="MONDO:equivalentTo", source="Orphanet:247353/ntbt", source="Orphanet:247353"} xref: Orphanet:163931 {source="MONDO:equivalentTo"} xref: Orphanet:247353 {source="OMIM:614204", source="MONDO:equivalentTo"} xref: Orphanet:404546 {source="OMIM:614204", source="MONDO:equivalentTo"} xref: SCTID:238612002 {source="MONDO:relatedTo"} xref: SCTID:83839005 {source="MONDO:equivalentTo"} xref: UMLS:CN199965 {source="MONDO:equivalentTo"} xref: UMLS:CN226196 {source="MONDO:equivalentTo"} is_a: EFO:0000676 {source="DC-OMIM:614204", source="MONDO:Redundant", source="OMIM:614204"} ! psoriasis is_a: MONDO:0015135 ! primary immunodeficiency due to a genetic defect in innate immunity is_a: MONDO:0017954 {source="Orphanet:404546"} ! pyogenic autoinflammatory syndrome is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease is_a: MONDO:0023603 ! hereditary disorder of connective tissue property_value: exactMatch DOID:0080474 property_value: exactMatch http://identifiers.org/snomedct/83839005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199965 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226196 property_value: exactMatch https://omim.org/entry/614204 property_value: exactMatch NCIT:C119057 property_value: exactMatch Orphanet:163931 property_value: exactMatch Orphanet:247353 property_value: exactMatch Orphanet:404546 property_value: excluded_subClassOf MONDO:0019299 {source="Orphanet:163931"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2829 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4496 xsd:anyURI [Term] id: MONDO:0013633 name: encephalopathy, acute, infection-induced, susceptibility to, 4 def: "Any encephalopathy, acute, infection-induced in which the cause of the disease is a mutation in the CPT2 gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition synonym: "CPT2 encephalopathy, acute, infection-induced" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "encephalopathy, acute, infection-induced caused by mutation in CPT2" EXACT [MONDO:design_pattern] synonym: "encephalopathy, acute, infection-induced, 4, susceptibility to" EXACT [OMIM:614212, OMIM:genemap2] synonym: "encephalopathy, acute, infection-induced, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:614212] synonym: "encephalopathy, acute, infection-induced, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:614212] synonym: "IIAE4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614212] xref: OMIM:614212 {source="MONDO:equivalentTo"} is_a: MONDO:0800174 {source="DC-OMIM:614212", source="MONDO:Redundant", source="OMIM:614212"} ! encephalitis, acute, infection-induced, susceptibility to property_value: exactMatch https://omim.org/entry/614212 property_value: excluded_subClassOf MONDO:0016991 {source="Orphanet:263524/btnt"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4882 xsd:anyURI [Term] id: MONDO:0013640 name: familial retinal arterial macroaneurysm subset: ordo_malformation_syndrome {source="Orphanet:284247"} synonym: "Fram" EXACT [Orphanet:284247] synonym: "RAMSVPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614224] synonym: "retinal arterial macroaneurysm and supravalvular pulmonic stenosis" EXACT [Orphanet:284247] synonym: "retinal arterial macroaneurysm with supravalvular pulmonic stenosis" RELATED [MONDO:Lexical, OMIM:614224] xref: OMIM:614224 {source="MONDO:equivalentTo", source="Orphanet:284247", source="Orphanet:284247/e"} xref: Orphanet:284247 {source="OMIM:614224", source="MONDO:equivalentTo"} xref: SCTID:764452004 {source="MONDO:equivalentTo"} xref: UMLS:C3280205 {source="OMIM:614224", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0003777 {source="MONDO:0015506-obsoleted"} ! heart disease is_a: MONDO:0020238 {source="Orphanet:284247"} ! inherited vitreous-retinal disease property_value: exactMatch http://identifiers.org/snomedct/764452004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280205 property_value: exactMatch https://omim.org/entry/614224 property_value: exactMatch Orphanet:284247 [Term] id: MONDO:0013644 name: Charcot-Marie-Tooth disease axonal type 2O def: "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the DYNC1H1 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:284232"} synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2O" EXACT [DOID:0110175] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2O" EXACT [DOID:0110175] synonym: "Charcot-Marie-Tooth disease caused by mutation in DYNC1H1" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease type 2O" RELATED [GARD:0012434] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2O" RELATED [OMIM:614228] synonym: "Charcot-Marie-Tooth disease, axonal, type 20" EXACT [OMIM:614228, OMIM:genemap2] synonym: "Charcot-Marie-Tooth disease, axonal, type 2O" RELATED [MONDO:Lexical, OMIM:614228] synonym: "Charcot-Marie-Tooth neuropathy axonal type 2O" EXACT [DOID:0110175] synonym: "Charcot-Marie-Tooth neuropathy, axonal, type 2O" RELATED [OMIM:614228] synonym: "CMT2O" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614228, Orphanet:284232] synonym: "DYNC1H1 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110175 {source="MONDO:equivalentTo"} xref: OMIM:614228 {source="Orphanet:284232", source="MONDO:equivalentTo", source="Orphanet:284232/e", source="DOID:0110175"} xref: Orphanet:284232 {source="MONDO:equivalentTo", source="OMIM:614228", source="DOID:0110175"} xref: UMLS:C3280220 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614228"} is_a: MONDO:0018993 {source="DOID:0110175", source="Orphanet:284232"} ! Charcot-Marie-Tooth disease type 2 property_value: exactMatch DOID:0110175 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280220 property_value: exactMatch https://omim.org/entry/614228 property_value: exactMatch Orphanet:284232 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013645 name: autosomal recessive spinocerebellar ataxia 11 def: "Any autosomal recessive syndromic cerebellar ataxia in which the cause of the disease is a mutation in the SYT14 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:284271"} synonym: "autosomal recessive cerebellar ataxia-psychomotor retardation syndrome" RELATED [Orphanet:284271] synonym: "autosomal recessive spinocerebellar ataxia 11" EXACT [] synonym: "autosomal recessive spinocerebellar ataxia type 11" EXACT [DOID:0080063, MONDORULE:2, Orphanet:284271] synonym: "autosomal recessive syndromic cerebellar ataxia caused by mutation in SYT14" EXACT [MONDO:design_pattern] synonym: "SCAR11" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614229, Orphanet:284271] synonym: "spinocerebellar ataxia, autosomal recessive 11" RELATED [MONDO:Lexical, OMIM:614229] synonym: "spinocerebellar ataxia, autosomal recessive type 11" EXACT [MONDORULE:2, OMIM:614229] synonym: "SYT14 autosomal recessive syndromic cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080063 {source="MONDO:equivalentTo"} xref: OMIM:614229 {source="DOID:0080063", source="Orphanet:284271", source="MONDO:equivalentTo", source="Orphanet:284271/e"} xref: Orphanet:284271 {source="MONDO:equivalentTo", source="OMIM:614229"} xref: UMLS:C3280226 {source="MONDO:equivalentTo", source="OMIM:614229", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0020047 {source="MONDO:Redundant", source="Orphanet:284271"} ! autosomal recessive syndromic cerebellar ataxia property_value: exactMatch DOID:0080063 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280226 property_value: exactMatch https://omim.org/entry/614229 property_value: exactMatch Orphanet:284271 [Term] id: MONDO:0013646 name: chromosome 8q21.11 deletion syndrome def: "Heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies." [Orphanet:284160] subset: ordo_malformation_syndrome {source="Orphanet:284160"} synonym: "8q21.11 microdeletion syndrome" EXACT [DECIPHER:86, DOID:0060425] synonym: "chromosome 8q21.11 deletion syndrome" EXACT [OMIM:614230] synonym: "chromosome 8q21.11 deletion syndrome, isolated cases" EXACT [OMIM:614230, OMIM:genemap2] synonym: "Del(8)(q21.11)" EXACT [Orphanet:284160] synonym: "deletion 8q21.11" EXACT [Orphanet:284160] synonym: "monosomy 8q21.11" EXACT [Orphanet:284160] xref: DECIPHER:86 {source="MONDO:equivalentTo"} xref: DOID:0060425 {source="MONDO:equivalentTo"} xref: OMIM:614230 {source="Orphanet:284160/e", source="MONDO:equivalentTo", source="DOID:0060425", source="Orphanet:284160"} xref: Orphanet:284160 {source="MONDO:equivalentTo", source="DOID:0060425", source="OMIM:614230"} xref: SCTID:718615003 {source="MONDO:equivalentTo"} xref: UMLS:C3280231 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614230"} xref: UMLS:C4305343 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:284160"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0016907 {source="Orphanet:284160"} ! partial deletion of the long arm of chromosome 8 property_value: exactMatch DOID:0060425 property_value: exactMatch http://identifiers.org/snomedct/718615003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280231 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305343 property_value: exactMatch https://omim.org/entry/614230 property_value: exactMatch Orphanet:284160 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:284160"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6311 xsd:anyURI [Term] id: MONDO:0013648 name: familial progressive hyperpigmentation def: "Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated." [Orphanet:79146] subset: ordo_disease {source="Orphanet:79146"} synonym: "Fph" RELATED [OMIM:614233] synonym: "FPH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614233] synonym: "hyperpigmentation, familial progressive, 1" RELATED [MONDO:Lexical, OMIM:614233] synonym: "melanosis diffusa congenita" EXACT [Orphanet:79146] synonym: "melanosis universalis hereditaria" EXACT [Orphanet:79146] synonym: "universal melanosis" EXACT [Orphanet:79146] xref: OMIM:614233 {source="Orphanet:79146/e", source="MONDO:equivalentTo", source="Orphanet:79146"} xref: Orphanet:79146 {source="OMIM:614233", source="MONDO:equivalentTo"} xref: SCTID:715630006 {source="MONDO:equivalentTo"} xref: UMLS:C1840392 {source="MONDO:equivalentTo", source="Orphanet:79146"} xref: UMLS:CN205811 {source="MONDO:equivalentTo"} is_a: MONDO:0019289 {source="Orphanet:79146"} ! hyperpigmentation of the skin property_value: exactMatch http://identifiers.org/snomedct/715630006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840392 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205811 property_value: exactMatch https://omim.org/entry/614233 property_value: exactMatch Orphanet:79146 [Term] id: MONDO:0013655 name: intellectual disability, autosomal dominant 8 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant intellectual disability 8" EXACT [DOID:0070038] synonym: "autosomal dominant mental retardation 8" EXACT DEPRECATED [DOID:0070038] synonym: "autosomal dominant non-syndromic intellectual disability 8" RELATED [DOID:0070038] synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN1" EXACT [MONDO:design_pattern] synonym: "GRIN1 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "intellectual disability, autosomal dominant 8" EXACT [MONDO:Lexical, OMIM:614254] synonym: "intellectual disability, autosomal dominant 8, formerly" RELATED [OMIM:614254] synonym: "intellectual disability, autosomal dominant type 8" EXACT [MONDORULE:1, OMIM:614254] synonym: "mental retardation, autosomal dominant 8" RELATED DEPRECATED [MONDO:Lexical, OMIM:614254] synonym: "mental retardation, autosomal dominant 8, formerly" RELATED DEPRECATED [OMIM:614254] synonym: "mental retardation, autosomal dominant type 8" EXACT DEPRECATED [MONDORULE:1, OMIM:614254] synonym: "MRD8" EXACT ABBREVIATION [DOID:0070038, MONDO:Lexical, OMIM:614254] synonym: "NDHMSD" RELATED ABBREVIATION [OMIM:614254] synonym: "neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant" RELATED [OMIM:614254] xref: DOID:0070038 {source="MONDO:equivalentTo"} xref: OMIM:614254 {source="DOID:0070038", source="MONDO:equivalentTo"} xref: UMLS:C3280282 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614254"} is_a: MONDO:0100172 {source="MONDO:Redundant", source="OMIM:614254"} ! intellectual disability, autosomal dominant property_value: exactMatch DOID:0070038 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280282 property_value: exactMatch https://omim.org/entry/614254 [Term] id: MONDO:0013656 name: intellectual disability, autosomal dominant 9 def: "An autosomal dominant condition caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A. It is characterized by microcephaly, intellectual disability, and delayed psychomotor development. The condition is progressive, occurs in early infancy, and is of variable severity." [NCIT:C133742] synonym: "autosomal dominant intellectual disability 9" EXACT [DOID:0070039] synonym: "autosomal dominant mental retardation 9" EXACT DEPRECATED [DOID:0070039] synonym: "autosomal dominant non-syndromic intellectual disability 9" RELATED [DOID:0070039] synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in KIF1A" EXACT [MONDO:design_pattern] synonym: "intellectual disability, autosomal dominant 9" EXACT [MONDO:Lexical, OMIM:614255] synonym: "intellectual disability, autosomal dominant type 9" EXACT [MONDORULE:1, OMIM:614255] synonym: "KIF1A autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "mental retardation, autosomal dominant 9" RELATED DEPRECATED [MONDO:Lexical, OMIM:614255] synonym: "mental retardation, autosomal dominant type 9" EXACT DEPRECATED [MONDORULE:1, OMIM:614255] synonym: "MRD9" EXACT ABBREVIATION [DOID:0070039, MONDO:Lexical, OMIM:614255] synonym: "NESCAV syndrome" EXACT [OMIM:614255, OMIM:genemap2] xref: DOID:0070039 {source="MONDO:equivalentTo"} xref: NCIT:C133742 {source="MONDO:equivalentTo"} xref: OMIM:614255 {source="MONDO:equivalentTo", source="DOID:0070039"} xref: UMLS:C3280283 {source="OMIM:614255", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C133742"} is_a: MONDO:0100172 {source="MONDO:Redundant", source="OMIM:614255"} ! intellectual disability, autosomal dominant is_a: MONDO:0700055 {source="https://orcid.org/0000-0002-8134-1207"} ! KIF1A related neurological disorder property_value: exactMatch DOID:0070039 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280283 property_value: exactMatch https://omim.org/entry/614255 property_value: exactMatch NCIT:C133742 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013659 name: microcephaly-capillary malformation syndrome subset: ordo_malformation_syndrome {source="Orphanet:294016"} synonym: "MIC-CAP syndrome" EXACT [Orphanet:294016] synonym: "MIC-CM syndrome" EXACT [Orphanet:294016] synonym: "MICCAP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614261] synonym: "microcephaly-capillary malformation syndrome" EXACT [MONDO:Lexical, OMIM:614261] synonym: "microcephaly-cutaneous capillary malformation syndrome" EXACT [Orphanet:294016] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:614261 {source="Orphanet:294016/e", source="MONDO:equivalentTo", source="Orphanet:294016"} xref: Orphanet:294016 {source="MONDO:equivalentTo", source="OMIM:614261"} xref: SCTID:703369003 {source="MONDO:equivalentTo"} xref: UMLS:C3280296 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614261"} is_a: MONDO:0002254 {source="Orphanet:294016"} ! syndromic disease relationship: disease_has_feature MONDO:0016231 ! capillary malformation property_value: exactMatch http://identifiers.org/snomedct/703369003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280296 property_value: exactMatch https://omim.org/entry/614261 property_value: exactMatch Orphanet:294016 property_value: excluded_subClassOf MONDO:0018719 {source="Orphanet:294016"} [Term] id: MONDO:0013660 name: arthrogryposis, Perthes disease, and upward gaze palsy synonym: "APUG" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614262] synonym: "arthrogryposis, Perthes disease, and upward gaze palsy" EXACT [MONDO:Lexical, OMIM:614262] xref: OMIM:614262 {source="MONDO:equivalentTo"} xref: UMLS:C3280309 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614262"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280309 property_value: exactMatch https://omim.org/entry/614262 [Term] id: MONDO:0013661 name: combined malonic and methylmalonic acidemia def: "Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline." [Orphanet:289504] subset: ordo_disease {source="Orphanet:289504"} synonym: "CMAMMA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614265, Orphanet:289504] synonym: "combined malonic and methylmalonic acidemia" EXACT [] synonym: "combined malonic and methylmalonic aciduria" EXACT [MONDO:Lexical, OMIM:614265, Orphanet:289504] xref: DOID:0111263 {source="MONDO:equivalentTo"} xref: MESH:C580002 {source="MONDO:equivalentTo"} xref: OMIM:614265 {source="MONDO:equivalentTo", source="Orphanet:289504", source="Orphanet:289504/e"} xref: Orphanet:289504 {source="MONDO:equivalentTo", source="OMIM:614265"} xref: SCTID:702365002 {source="MONDO:equivalentTo"} xref: UMLS:C3280314 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:289504", source="OMIM:614265"} is_a: MONDO:0002012 {source="MONDO:cjm"} ! methylmalonic acidemia is_a: MONDO:0019215 {source="Orphanet:289504"} ! classic organic aciduria property_value: exactMatch DOID:0111263 property_value: exactMatch http://identifiers.org/mesh/C580002 property_value: exactMatch http://identifiers.org/snomedct/702365002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280314 property_value: exactMatch https://omim.org/entry/614265 property_value: exactMatch Orphanet:289504 [Term] id: MONDO:0013668 name: tetrasomy 18p def: "Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations." [Orphanet:3307] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:3307"} synonym: "chromosome 18p tetrasomy" RELATED [GARD:0000035] synonym: "Isochromosome 18p" EXACT [GARD:0000035, Orphanet:3307] synonym: "Isochromosome 18P syndrome" RELATED [OMIM:614290] synonym: "tetrasomy 18p" EXACT [GARD:0000035, OMIM:614290] synonym: "tetrasomy chromosome 18p" RELATED [GARD:0000035] synonym: "tetrasomy type 18P" EXACT [MONDORULE:4, OMIM:614290] synonym: "tetrasomy type 18p" EXACT [MONDORULE:4, Orphanet:3307] xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538306 {source="MONDO:equivalentTo"} xref: OMIM:614290 {source="MONDO:equivalentTo", source="Orphanet:3307", source="Orphanet:3307/e"} xref: Orphanet:3307 {source="GARD:0000035", source="MONDO:equivalentTo", source="OMIM:614290"} xref: SCTID:698849002 {source="MONDO:equivalentTo"} xref: UMLS:C0795868 {source="GARD:0000035", source="MONDO:equivalentTo", source="OMIM:614290", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:3307", source="Orphanet:3307/e"} is_a: EFO:0000508 {source="Orphanet:3307/inferred"} ! genetic disorder is_a: MONDO:0016951 {source="Orphanet:3307"} ! partial trisomy/tetrasomy of the short arm of chromosome 18 property_value: exactMatch http://identifiers.org/mesh/C538306 property_value: exactMatch http://identifiers.org/snomedct/698849002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795868 property_value: exactMatch https://omim.org/entry/614290 property_value: exactMatch Orphanet:3307 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI [Term] id: MONDO:0013674 name: neurodegeneration with brain iron accumulation 4 def: "Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." [Orphanet:289560] subset: ordo_disease {source="Orphanet:289560"} synonym: "C19orf12 neurodegeneration with brain iron accumulation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "mitochondrial membrane protein-associated neurodegeneration" RELATED [Orphanet:289560] synonym: "mitochondrial Protein-associated neurodegeneration" EXACT [DOID:0110738, OMIM:614298] synonym: "MPAN" EXACT ABBREVIATION [DOID:0110738, Orphanet:289560] synonym: "NBIA due to C19orf12 mutation" EXACT [DOID:0110738, Orphanet:289560] synonym: "NBIA4" EXACT ABBREVIATION [DOID:0110738, MONDO:Lexical, OMIM:614298, Orphanet:289560] synonym: "neurodegeneration with brain iron accumulation 4" EXACT [MONDO:Lexical, OMIM:614298] synonym: "neurodegeneration with brain iron accumulation caused by mutation in C19orf12" EXACT [MONDO:design_pattern] synonym: "neurodegeneration with brain iron accumulation due to C19orf12 mutation" EXACT [DOID:0110738, Orphanet:289560] synonym: "neurodegeneration with brain iron accumulation type 4" EXACT [DOID:0110738, MONDORULE:1, OMIM:614298, Orphanet:289560] xref: DOID:0110738 {source="MONDO:equivalentTo"} xref: ICD9:333.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C175707 {source="MONDO:equivalentTo"} xref: OMIM:614298 {source="Orphanet:289560/e", source="DOID:0110738", source="MONDO:equivalentTo", source="Orphanet:289560"} xref: Orphanet:289560 {source="DOID:0110738", source="MONDO:equivalentTo", source="OMIM:614298"} xref: SCTID:709415008 {source="MONDO:equivalentTo"} xref: UMLS:C3280371 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614298"} is_a: MONDO:0018307 {source="DC-OMIM:614298", source="DOID:0110738", source="MONDO:Redundant", source="OMIM:614298", source="Orphanet:289560"} ! neurodegeneration with brain iron accumulation property_value: exactMatch DOID:0110738 property_value: exactMatch http://identifiers.org/snomedct/709415008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280371 property_value: exactMatch https://omim.org/entry/614298 property_value: exactMatch NCIT:C175707 property_value: exactMatch Orphanet:289560 [Term] id: MONDO:0013675 name: multiple mitochondrial dysfunctions syndrome 2 def: "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the BOLA3 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:401874"} synonym: "BOLA3 deficiency" EXACT [Orphanet:401874] synonym: "BOLA3 fatal multiple mitochondrial dysfunctions syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in BOLA3" EXACT [MONDO:design_pattern] synonym: "MMDS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614299] synonym: "multiple mitochondrial dysfunctions syndrome 2" EXACT [MONDO:Lexical, OMIM:614299] synonym: "multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia" RELATED [OMIM:614299] synonym: "multiple mitochondrial dysfunctions syndrome type 2" EXACT [DOID:0080134, MONDORULE:1, OMIM:614299] xref: DOID:0080134 {source="MONDO:equivalentTo"} xref: OMIM:614299 {source="Orphanet:401874", source="DOID:0080134", source="MONDO:equivalentTo", source="Orphanet:401874/e"} xref: Orphanet:401874 {source="OMIM:614299", source="MONDO:equivalentTo"} xref: UMLS:C3280378 {source="OMIM:614299", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0017338 {source="MONDO:Redundant", source="OMIM:614299", source="Orphanet:401874"} ! fatal multiple mitochondrial dysfunctions syndrome property_value: exactMatch DOID:0080134 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280378 property_value: exactMatch https://omim.org/entry/614299 property_value: exactMatch Orphanet:401874 [Term] id: MONDO:0013676 name: obsolete hypermethioninemia due to adenosine kinase deficiency comment: Replaced this term with a new term with a new label. property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2587 xsd:anyURI is_obsolete: true replaced_by: MONDO:0100255 [Term] id: MONDO:0013678 name: EDICT syndrome def: "EDICT (endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning) syndrome is a very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia." [Orphanet:293936] subset: ordo_disease {source="Orphanet:293936"} synonym: "autosomal dominant keratoconus with early-onset anterior polar cataracts" EXACT [Orphanet:293936] synonym: "EDICT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614303] synonym: "EDICT syndrome" EXACT [MONDO:Lexical, OMIM:614303] synonym: "endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning syndrome" RELATED [OMIM:614303] synonym: "endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome" EXACT [Orphanet:293936] synonym: "familial keratoconus with cataract" EXACT [Orphanet:293936] synonym: "keratoconus with cataract" RELATED [OMIM:614303] synonym: "keratoconus, familial, with early-onset anterior polar cataract" RELATED [OMIM:614303] synonym: "KTCNCT" EXACT ABBREVIATION [Orphanet:293936] xref: OMIM:614303 {source="Orphanet:293936", source="MONDO:equivalentTo", source="Orphanet:293936/e"} xref: Orphanet:293936 {source="OMIM:614303", source="MONDO:equivalentTo"} xref: SCTID:722439009 {source="MONDO:equivalentTo"} xref: UMLS:C3280392 {source="OMIM:614303", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0020211 {source="Orphanet:293936"} ! syndromic keratoconus property_value: exactMatch http://identifiers.org/snomedct/722439009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280392 property_value: exactMatch https://omim.org/entry/614303 property_value: exactMatch Orphanet:293936 [Term] id: MONDO:0013680 name: cognitive impairment with or without cerebellar ataxia synonym: "CIAT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614306] synonym: "cognitive impairment with or without cerebellar ataxia" EXACT [MONDO:Lexical, OMIM:614306] xref: OMIM:614306 {source="MONDO:equivalentTo"} xref: UMLS:C3280415 {source="MONDO:equivalentTo", source="OMIM:614306", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280415 property_value: exactMatch https://omim.org/entry/614306 [Term] id: MONDO:0013687 name: autosomal recessive spinocerebellar ataxia 12 def: "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI." [Orphanet:284282] subset: ordo_disease {source="Orphanet:284282"} synonym: "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in WWOX" EXACT [] synonym: "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to WWOX deficiency" RELATED [Orphanet:284282] synonym: "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in WWOX" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spinocerebellar ataxia 12" EXACT [] synonym: "autosomal recessive spinocerebellar ataxia type 12" EXACT [DOID:0080060, MONDORULE:2, Orphanet:284282] synonym: "SCAR12" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614322, Orphanet:284282] synonym: "spinocerebellar ataxia with intellectual disability and epilepsy" RELATED [OMIM:614322] synonym: "spinocerebellar ataxia with mental retardation and epilepsy" RELATED DEPRECATED [OMIM:614322] synonym: "spinocerebellar ataxia, autosomal recessive 12" RELATED [MONDO:Lexical, OMIM:614322] synonym: "spinocerebellar ataxia, autosomal recessive type 12" EXACT [MONDORULE:2, OMIM:614322] synonym: "WWOX autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "WWOX autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080060 {source="MONDO:equivalentTo"} xref: OMIM:614322 {source="Orphanet:284282", source="MONDO:equivalentTo", source="Orphanet:284282/e", source="DOID:0080060"} xref: Orphanet:284282 {source="OMIM:614322", source="MONDO:equivalentTo"} xref: UMLS:C3280452 {source="OMIM:614322", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018446 {source="MONDO:Redundant", source="Orphanet:284282"} ! autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome property_value: exactMatch DOID:0080060 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280452 property_value: exactMatch https://omim.org/entry/614322 property_value: exactMatch Orphanet:284282 [Term] id: MONDO:0013688 name: linear and whorled nevoid hypermelanosis def: "Linear and whorled nevoid hypermelanosis (LWNH) is a rare skin condition characterized by swirling streaks of hyperpigmented (darkened) skin. The pigmentation follows the lines of Blashko and is mainly located on the trunk and limbs. It is present at birth or appears in the first few weeks of life. It typically progresses for one to two years and then stabilizes. Hyperpigmentation is usually the only symptom but there are isolated reports of other symptoms, involving mostly the central nervous system, musculoskeletal system, and heart. While most cases of LWNH are sporadic, apparent genetic transmission rarely has been described. A few people with LWNH have been diagnosed with chromosomal mosaicism." [https://rarediseases.info.nih.gov/diseases/11004/linear-and-whorled-nevoid-hypermelanosis] subset: gard_rare {source="GARD:0011004"} subset: ordo_disease {source="Orphanet:79150"} synonym: "Becker Nevus" EXACT [NCIT:C3924] synonym: "Becker's Nevus" EXACT [NCIT:C3924] synonym: "hyperpigmentation, progressive cribriform and zosteriform" RELATED [OMIM:614323] synonym: "linear and whorled hypermelanosis" RELATED [GARD:0011004] synonym: "linear papular ectodermal-mesodermal hamartoma" EXACT [NCIT:C3924] synonym: "LWNH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614323] synonym: "melanosis Neviformis" EXACT [NCIT:C3924] synonym: "nevoid hypermelanosis, linear and whorled" RELATED [GARD:0011004, MONDO:Lexical, OMIM:614323] synonym: "pigmented hairy Epidermal Nevus" EXACT [NCIT:C3924] synonym: "pigmented hairy Nevus of Becker" EXACT [NCIT:C3924] synonym: "progressive cribriform and zosteriform hyperpigmentation" EXACT [NCIT:C3924] synonym: "reticulate hyperpigmentation of Iijima" RELATED [GARD:0011004] synonym: "zebra-like hyperpigmentation" RELATED [GARD:0011004] synonym: "zosteriform hyperpigmentation" RELATED [GARD:0011004] synonym: "zosteriform lentiginous nevus" RELATED [GARD:0011004] xref: NCIT:C3924 {source="MONDO:equivalentTo"} xref: OMIM:614323 {source="MONDO:equivalentTo", source="Orphanet:79150", source="Orphanet:79150/e"} xref: Orphanet:79150 {source="OMIM:614323", source="MONDO:equivalentTo"} xref: SCTID:403803002 {source="MONDO:equivalentTo"} xref: UMLS:C0263579 {source="NCIT:C3924", source="OMIM:614323", source="MONDO:equivalentTo"} xref: UMLS:C1304501 {source="OMIM:614323", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:79150", source="Orphanet:79150/e"} is_a: EFO:1000634 {source="NCIT:C3924"} ! hamartoma is_a: MONDO:0011500 ! Becker nevus syndrome is_a: MONDO:0019289 {source="Orphanet:79150"} ! hyperpigmentation of the skin property_value: exactMatch http://identifiers.org/snomedct/403803002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263579 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1304501 property_value: exactMatch https://omim.org/entry/614323 property_value: exactMatch NCIT:C3924 property_value: exactMatch Orphanet:79150 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11004/linear-and-whorled-nevoid-hypermelanosis xsd:anyURI {source="GARD:0011004"} [Term] id: MONDO:0013691 name: Feingold syndrome type 2 def: "Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." [Orphanet:391646] subset: ordo_clinical_subtype {source="Orphanet:391646"} synonym: "brachydactyly with short stature and microcephaly" RELATED [OMIM:614326] synonym: "brachydactyly-short stature-microcephaly syndrome" EXACT [Orphanet:391646] synonym: "Brunner-Winter syndrome type 2" EXACT [Orphanet:391646] synonym: "Feingold syndrome 2" RELATED [MONDO:Lexical, OMIM:614326] synonym: "Feingold syndrome type 2" EXACT [MONDORULE:1, OMIM:614326] synonym: "FGLDS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614326, Orphanet:391646] synonym: "FS2" EXACT ABBREVIATION [Orphanet:391646] synonym: "microcephaly-digital anomalies-normal intelligence syndrome type 2" EXACT [Orphanet:391646] synonym: "microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2" EXACT [Orphanet:391646] synonym: "MMT type 2" EXACT [Orphanet:391646] xref: OMIM:614326 {source="Orphanet:391646/e", source="MONDO:equivalentTo", source="Orphanet:391646"} xref: Orphanet:391646 {source="OMIM:614326", source="MONDO:equivalentTo"} xref: UMLS:C3280489 {source="OMIM:614326", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015267 {source="DC-OMIM:614326", source="MONDO:Redundant", source="OMIM:614326", source="Orphanet:391646"} ! Feingold syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280489 property_value: exactMatch https://omim.org/entry/614326 property_value: exactMatch Orphanet:391646 [Term] id: MONDO:0013692 name: BAP1-related tumor predisposition syndrome def: "BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape." [Orphanet:289539] subset: ordo_disease {source="Orphanet:289539"} synonym: "BAP1 tumor predisposition syndrome" RELATED [GARD:0013219] synonym: "BAP1 tumour predisposition syndrome" RELATED OMO:0003005 [] synonym: "BAP1-related tumor predisposition syndrome" EXACT [] synonym: "TPDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614327] synonym: "tumor predisposition syndrome" RELATED [MONDO:Lexical, OMIM:614327] synonym: "tumor susceptibility linked to germline BAP1 mutations" EXACT [Orphanet:289539] synonym: "tumour predisposition syndrome" RELATED OMO:0003005 [] synonym: "tumour susceptibility linked to germline BAP1 mutations" EXACT OMO:0003005 [] xref: OMIM:614327 {source="Orphanet:289539/e", source="MONDO:equivalentTo", source="Orphanet:289539"} xref: Orphanet:289539 {source="MONDO:equivalentTo", source="OMIM:614327"} xref: SCTID:765057007 {source="MONDO:equivalentTo"} xref: UMLS:C3280492 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614327"} is_a: MONDO:0015356 {source="Orphanet:289539"} ! hereditary neoplastic syndrome property_value: exactMatch http://identifiers.org/snomedct/765057007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280492 property_value: exactMatch https://omim.org/entry/614327 property_value: exactMatch Orphanet:289539 [Term] id: MONDO:0013696 name: chromosome 2p16.3 deletion syndrome synonym: "chromosome 2P16.3 deletion syndrome" EXACT [OMIM:614332] synonym: "schizophrenia, susceptibility to, 17" EXACT [OMIM:614332, OMIM:genemap2] xref: OMIM:614332 {source="MONDO:equivalentTo"} xref: UMLS:C3808494 {source="OMIM:614332", source="MONDO:equivalentTo"} is_a: MONDO:0005090 ! schizophrenia is_a: MONDO:0016884 {source="https://orcid.org/0000-0002-4142-7153"} ! partial deletion of the short arm of chromosome 2 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808494 property_value: exactMatch https://omim.org/entry/614332 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013700 name: pancreatic triacylglycerol lipase deficiency def: "An autosomal recessive disorder caused by mutation(s) in the PNLIP gene, encoding pancreatic triacylglycerol lipase. The condition is characterized by absent or reduced pancreatic lipase." [NCIT:C129030] subset: ordo_disease {source="Orphanet:309031"} synonym: "colipase, congenital absence of pancreatic" RELATED [OMIM:614338] synonym: "lipase and colipase, congenital absence of pancreatic" RELATED [OMIM:614338] synonym: "lipase and colipase, deficiency of" RELATED [OMIM:614338] synonym: "lipase, congenital absence of pancreatic" RELATED [OMIM:614338] synonym: "pancreatic colipase deficiency" RELATED [OMIM:614338] synonym: "pancreatic lipase deficiency" RELATED [MONDO:Lexical, OMIM:614338] synonym: "pancreatic triglyceride lipase deficiency" EXACT [Orphanet:309031] synonym: "PL deficiency" RELATED [OMIM:614338] synonym: "PNLIPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614338] xref: ICD10CM:K90.3 {source="Orphanet:309031/attributed", source="Orphanet:309031/ntbt", source="MONDO:relatedTo", source="Orphanet:309031"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C129030 {source="MONDO:equivalentTo"} xref: OMIM:614338 {source="Orphanet:309031", source="MONDO:equivalentTo", source="Orphanet:309031/e"} xref: Orphanet:309031 {source="MONDO:equivalentTo", source="OMIM:614338"} xref: SCTID:78960005 {source="MONDO:equivalentTo"} xref: UMLS:C0268240 {source="Orphanet:309031", source="MONDO:equivalentTo", source="Orphanet:309031/e"} is_a: MONDO:0017709 {source="Orphanet:309031"} ! disorder of lipid absorption and transport property_value: exactMatch http://identifiers.org/snomedct/78960005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268240 property_value: exactMatch https://omim.org/entry/614338 property_value: exactMatch NCIT:C129030 property_value: exactMatch Orphanet:309031 [Term] id: MONDO:0013702 name: intellectual disability, autosomal recessive 27 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LINS1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in LINS1" EXACT [MONDO:design_pattern] synonym: "intellectual developmental disorder, autosomal recessive 27" EXACT [OMIM:614340, OMIM:genemap2] synonym: "intellectual disability, autosomal recessive 27" EXACT [MONDO:Lexical, OMIM:614340] synonym: "intellectual disability, autosomal recessive type 27" EXACT [MONDORULE:2, OMIM:614340] synonym: "LINS1 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "mental retardation, autosomal recessive 27" RELATED DEPRECATED [MONDO:Lexical, OMIM:614340] synonym: "mental retardation, autosomal recessive type 27" EXACT DEPRECATED [MONDORULE:2, OMIM:614340] synonym: "MRT27" RELATED DEPRECATED [MONDO:Lexical, OMIM:614340] xref: DOID:0081193 {source="MONDO:equivalentTo"} xref: OMIM:614340 {source="MONDO:equivalentTo"} xref: UMLS:C3280538 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614340"} is_a: MONDO:0019502 {source="DC-OMIM:614340", source="MONDO:Redundant", source="OMIM:614340"} ! autosomal recessive non-syndromic intellectual disability property_value: exactMatch DOID:0081193 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280538 property_value: exactMatch https://omim.org/entry/614340 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013711 name: peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome subset: ordo_disease {source="Orphanet:397744"} synonym: "peripheral neuropathy, myopathy, hoarseness, and hearing loss" RELATED [MONDO:Lexical, OMIM:614369] synonym: "peripheral neuropathy-myopathy-hoarseness-deafness syndrome" EXACT [Orphanet:397744] synonym: "PNMHH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614369] xref: OMIM:614369 {source="MONDO:equivalentTo", source="Orphanet:397744", source="Orphanet:397744/e"} xref: Orphanet:397744 {source="OMIM:614369", source="MONDO:equivalentTo"} xref: UMLS:C3280556 {source="OMIM:614369", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015362 {source="Orphanet:397744"} ! autosomal dominant distal hereditary motor neuropathy is_a: MONDO:0016108 {source="Orphanet:397744"} ! autosomal dominant distal myopathy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280556 property_value: exactMatch https://omim.org/entry/614369 property_value: exactMatch Orphanet:397744 [Term] id: MONDO:0013713 name: dengue virus, susceptibility to subset: predisposition synonym: "Dengue fever, protection against" RELATED [OMIM:614371] synonym: "Dengue fever, susceptibility to" RELATED [OMIM:614371] synonym: "Dengue hemorrhagic fever, susceptibility to" RELATED [OMIM:614371] synonym: "Dengue shock syndrome, susceptibility to" RELATED [OMIM:614371] synonym: "dengue virus, susceptibility to" EXACT [OMIM:614371] synonym: "susceptibility to dengue virus" RELATED [OMIM:614371] xref: OMIM:614371 {source="MONDO:equivalentTo"} xref: Orphanet:99828 {source="MONDO:relatedTo", source="OMIM:614371"} is_a: MONDO:0015979 ! hereditary predisposition to infections intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: predisposes_towards EFO:0005547 ! dengue disease relationship: predisposes_towards EFO:0005547 ! dengue disease property_value: exactMatch https://omim.org/entry/614371 [Term] id: MONDO:0013714 name: mannose-binding lectin deficiency synonym: "lectin complement activation pathway, defect in, 1" RELATED [OMIM:614372] synonym: "mannose-binding lectin deficiency" EXACT [OMIM:614372] synonym: "mannose-binding protein deficiency" EXACT [OMIM:614372] synonym: "MBL deficiency" RELATED [OMIM:614372] synonym: "MBL2 deficiency" RELATED [OMIM:614372] synonym: "MBLD" RELATED ABBREVIATION [OMIM:614372] synonym: "MBP deficiency" RELATED [OMIM:614372] xref: ICD9:279.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563602 {source="MONDO:equivalentTo"} xref: OMIM:614372 {source="MONDO:equivalentTo"} xref: SCTID:703538003 {source="MONDO:equivalentTo"} xref: UMLS:C3280586 {source="MONDO:equivalentTo", source="OMIM:614372"} is_a: MONDO:0044209 {source="OMIM:614372"} ! disorder of lectin complement activation pathway property_value: exactMatch http://identifiers.org/mesh/C563602 property_value: exactMatch http://identifiers.org/snomedct/703538003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280586 property_value: exactMatch https://omim.org/entry/614372 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013726 name: encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 subset: ordo_disease {source="Orphanet:330050"} synonym: "DNM1L-associated encephalopathy due to peroxisomal and mitochondrial fission defect" EXACT [https://www.clinicalgenome.org/affiliation/40049/] synonym: "EMPF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614388] synonym: "EMPF1" RELATED ABBREVIATION [OMIM:614388] synonym: "encephalopathy due to defective mitochondrial and peroxisomal fission 1" RELATED [OMIM:614388] synonym: "encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission" RELATED [MONDO:Lexical, OMIM:614388] synonym: "encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1" EXACT [] synonym: "lethal encephalopathy due to mitochondrial and peroxisomal fission defect" EXACT [UMLS:C3280660] xref: DOID:0070347 {source="MONDO:equivalentTo"} xref: OMIM:614388 {source="Orphanet:330050/e", source="MONDO:equivalentTo", source="Orphanet:330050"} xref: Orphanet:330050 {source="OMIM:614388", source="MONDO:equivalentTo"} xref: UMLS:C3280660 {source="OMIM:614388", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0054865 {source="OMIM:614388", source="https://www.clinicalgenome.org/affiliation/40049/"} ! encephalopathy due to mitochondrial and peroxisomal fission defect is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy property_value: exactMatch DOID:0070347 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280660 property_value: exactMatch https://omim.org/entry/614388 property_value: exactMatch Orphanet:330050 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5671 xsd:anyURI [Term] id: MONDO:0013730 name: graft versus host disease def: "An immune system disorder that occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen." [Orphanet:39812] subset: ordo_disease {source="Orphanet:39812"} synonym: "disease, graft-versus-host" EXACT [MESH:D006086] synonym: "disease, graft-vs-host" EXACT [MESH:D006086] synonym: "disease, homologous wasting" RELATED [MESH:D006086] synonym: "disease, runt" RELATED [MESH:D006086] synonym: "diseases, graft-versus-host" EXACT [MESH:D006086] synonym: "diseases, graft-vs-host" EXACT [MESH:D006086] synonym: "graft versus host disease" EXACT [MESH:D006086] synonym: "graft vs host disease" EXACT [NCIT:C3063] synonym: "graft vs. host disease" EXACT [NCIT:C3063] synonym: "graft-versus-host disease" EXACT [MESH:D006086, NCIT:C3063] synonym: "graft-versus-host disease, resistance to" RELATED [OMIM:614395] synonym: "graft-versus-host disease, susceptibility to" RELATED [MONDO:Lexical, OMIM:614395] synonym: "graft-versus-host diseases" RELATED [MESH:D006086] synonym: "graft-versus-host-disease" EXACT [NCIT:C3063] synonym: "graft-vs-host disease" EXACT [MESH:D006086] synonym: "graft-VS-host diseases" RELATED [MESH:D006086] synonym: "GVH" EXACT ABBREVIATION [Orphanet:39812] synonym: "GVHD" EXACT ABBREVIATION [NCIT:C3063] synonym: "homologous wasting disease" RELATED [MESH:D006086] synonym: "runt disease" EXACT [MESH:D006086, NCIT:C3063] xref: DOID:0081267 {source="MONDO:equivalentTo"} xref: ICD9:279.50 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10018651 {source="Orphanet:39812/e", source="Orphanet:39812"} xref: MESH:D006086 {source="MONDO:equivalentTo"} xref: NCIT:C3063 {source="MONDO:equivalentTo"} xref: Orphanet:39812 {source="MONDO:equivalentTo", source="OMIM:614395"} xref: SCTID:234646005 {source="MONDO:equivalentTo"} xref: UMLS:C0018133 {source="NCIT:C3063", source="MONDO:equivalentTo", source="Orphanet:39812"} is_a: EFO:0000540 {source="MESH:D006086", source="MONDO:Redundant", source="Orphanet:39812"} ! immune system disease is_a: MONDO:0700222 {source="Orphanet:39812"} ! disease related to hematopoietic stem cell transplant relationship: has_characteristic MONDO:0021136 {source="MONDO:0020008"} ! rare property_value: closeMatch http://identifiers.org/meddra/10018651 property_value: exactMatch DOID:0081267 property_value: exactMatch http://identifiers.org/mesh/D006086 property_value: exactMatch http://identifiers.org/snomedct/234646005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018133 property_value: exactMatch NCIT:C3063 property_value: exactMatch Orphanet:39812 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5493 xsd:anyURI [Term] id: MONDO:0013731 name: MEGF10-related myopathy subset: ordo_disease {source="Orphanet:439212"} synonym: "A congenital myopathy caused by mutations in the multiple epidermal growth factor-like domains 10 (MEGF10) gene, which causes early-onset myopathy characterised by severe weakness, scoliosis, joint contractures, areflexia, respiratory distress, and dysphagia, and a milder phenotype of minicore myopathy." EXACT OMO:0003005 [] synonym: "A congenital myopathy caused by mutations in the multiple epidermal growth factor-like domains 10 (MEGF10) gene, which causes early-onset myopathy characterized by severe weakness, scoliosis, joint contractures, areflexia, respiratory distress, and dysphagia, and a milder phenotype of minicore myopathy." EXACT [PMID:22371254, PMID:27460346] synonym: "congenital myopathy 10A, severe variant" EXACT [OMIM:614399] synonym: "early-onset myopathy, areflexia, respiratory distress and dysphagia" RELATED [GARD:0012199] synonym: "early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome" RELATED [https://github.com/monarch-initiative/mondo/issues/1112] synonym: "EMARDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614399, Orphanet:439212] synonym: "MEGF10 myopathy" EXACT [https://github.com/monarch-initiative/mondo/issues/1112] synonym: "MEGF10-related myopathy" EXACT [] synonym: "myopathy, areflexia, respiratory distress, and dysphagia, early-onset" RELATED [MONDO:Lexical, OMIM:614399] synonym: "myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant" RELATED [OMIM:614399] xref: DOID:0111333 {source="MONDO:equivalentTo"} xref: OMIM:614399 {source="Orphanet:439212/e", source="MONDO:equivalentTo", source="Orphanet:439212"} xref: Orphanet:439212 {source="MONDO:equivalentTo"} xref: UMLS:C3280679 {source="OMIM:614399", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019952 {source="OMIM:614399", source="Orphanet:439212"} ! congenital myopathy property_value: exactMatch DOID:0111333 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280679 property_value: exactMatch https://omim.org/entry/614399 property_value: exactMatch Orphanet:439212 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1112 xsd:anyURI [Term] id: MONDO:0013732 name: glucocorticoid therapy, response to synonym: "GCTR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614400] synonym: "glucocorticoid therapy, response to" EXACT [MONDO:Lexical, OMIM:614400] xref: OMIM:614400 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/entry/614400 [Term] id: MONDO:0013733 name: obsolete accelerated tumor formation, susceptibility to comment: Reason: out of scope. Term to consider: None synonym: "accelerated tumor formation, susceptibility to" EXACT [MONDO:Lexical, OMIM:614401] synonym: "ACTFS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614401] xref: OMIM:614401 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch https://omim.org/entry/614401 property_value: excluded_subClassOf MONDO:0003847 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4363 xsd:anyURI is_obsolete: true [Term] id: MONDO:0013735 name: microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome def: "Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern." [Orphanet:329332] subset: ordo_malformation_syndrome {source="Orphanet:329332"} synonym: "MCHCCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614407] synonym: "microcephaly, cerebellar hypoplasia, and CARDIAC conduction defect syndrome" RELATED [MONDO:Lexical, OMIM:614407] synonym: "microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome" EXACT [Orphanet:329332] synonym: "Zaki-Gleeson syndrome" RELATED [OMIM:614407] xref: OMIM:614407 {source="Orphanet:329332/e", source="MONDO:equivalentTo", source="Orphanet:329332"} xref: Orphanet:329332 {source="MONDO:equivalentTo", source="OMIM:614407"} xref: UMLS:C3280692 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614407"} is_a: MONDO:0015159 {source="Orphanet:329332"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280692 property_value: exactMatch https://omim.org/entry/614407 property_value: exactMatch Orphanet:329332 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:329332"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0013737 name: hereditary spastic paraplegia 46 def: "A rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase." [Orphanet:320391] subset: ordo_disease {source="Orphanet:320391"} synonym: "autosomal recessive complex spastic paraplegia caused by mutation in GBA2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 46" EXACT [DOID:0110798] synonym: "autosomal recessive spastic paraplegia type 46" EXACT [DOID:0110798] synonym: "GBA2 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary spastic paraplegia 46" EXACT [] synonym: "hereditary spastic paraplegia type 46" EXACT [DOID:0110798, MONDORULE:2] synonym: "spastic paraplegia 46, autosomal recessive" RELATED [MONDO:Lexical, OMIM:614409] synonym: "SPG46" EXACT ABBREVIATION [DOID:0110798, MONDO:Lexical, OMIM:614409, Orphanet:320391] xref: DOID:0110798 {source="MONDO:equivalentTo"} xref: OMIM:614409 {source="DOID:0110798", source="Orphanet:320391/e", source="MONDO:equivalentTo", source="Orphanet:320391"} xref: Orphanet:320391 {source="DOID:0110798", source="MONDO:equivalentTo", source="OMIM:614409"} xref: SCTID:723822009 {source="MONDO:equivalentTo"} xref: UMLS:C2828721 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614409"} xref: UMLS:C4510081 {source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="MONDO:Redundant", source="Orphanet:320391"} ! autosomal recessive complex spastic paraplegia property_value: exactMatch DOID:0110798 property_value: exactMatch http://identifiers.org/snomedct/723822009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2828721 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510081 property_value: exactMatch https://omim.org/entry/614409 property_value: exactMatch Orphanet:320391 [Term] id: MONDO:0013740 name: lethal occipital encephalocele-skeletal dysplasia syndrome def: "Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated." [Orphanet:293925] subset: ordo_malformation_syndrome {source="Orphanet:293925"} synonym: "craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies" EXACT [OMIM:614416, OMIM:genemap2] synonym: "radiohumeral fusions with other skeletal and craniofacial anomalies" RELATED [MONDO:Lexical, OMIM:614416] synonym: "RHFCA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614416] xref: OMIM:614416 {source="Orphanet:293925", source="MONDO:equivalentTo", source="Orphanet:293925/e"} xref: Orphanet:293925 {source="MONDO:equivalentTo", source="OMIM:614416"} xref: UMLS:C3280729 {source="MONDO:equivalentTo", source="OMIM:614416", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015338 {source="Orphanet:293925"} ! syndromic craniosynostosis property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280729 property_value: exactMatch https://omim.org/entry/614416 property_value: exactMatch Orphanet:293925 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013742 name: familial mesial temporal lobe epilepsy with febrile seizures comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: obsoletion_candidate subset: ordo_disease {source="Orphanet:165805"} synonym: "FEB11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614418] synonym: "febrile seizures, familial, 11" RELATED [MONDO:Lexical, OMIM:614418] synonym: "febrile seizures, familial, type 11" EXACT [MONDORULE:2, OMIM:614418] xref: Orphanet:165805 {source="MONDO:equivalentTo"} is_a: MONDO:0000032 {source="DC-OMIM:614418", source="OMIM:614418"} ! febrile seizures, familial is_a: MONDO:0017704 {source="Orphanet:165805"} ! familial partial epilepsy property_value: exactMatch Orphanet:165805 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0013743 name: autosomal systemic lupus erythematosus type 16 def: "An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3." [MONDO:patterns/hereditary] comment: Editor note: it is not clear what the ORDO class Orphanet:300345 should be equivalent to, see https://github.com/monarch-initiative/mondo/issues/1164 subset: ordo_disease {source="Orphanet:300345"} synonym: "autosomal SLE" BROAD [Orphanet:300345] synonym: "familial SLE" BROAD [Orphanet:300345] synonym: "familial systemic lupus erythematosus" BROAD [Orphanet:300345] synonym: "SLEB16" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614420] synonym: "systemic lupus erythematosus 16" EXACT [OMIM:614420] synonym: "systemic lupus erythematosus type 16" EXACT [MONDORULE:2, OMIM:614420] xref: OMIM:614420 {source="Orphanet:300345", source="MONDO:equivalentTo", source="Orphanet:300345/e"} xref: Orphanet:300345 {source="OMIM:614420", source="MONDO:equivalentTo"} xref: UMLS:C3280742 {source="OMIM:614420", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0007915 {source="DC-OMIM:614420", source="MONDO:Redundant"} ! systemic lupus erythematosus is_a: MONDO:0018782 {source="Orphanet:300345"} ! type 1 interferonopathy is_a: MONDO:0023603 ! hereditary disorder of connective tissue is_a: MONDO:0100191 ! inherited kidney disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280742 property_value: exactMatch https://omim.org/entry/614420 property_value: exactMatch Orphanet:300345 [Term] id: MONDO:0013746 name: ventricular septal defect 1 def: "Any ventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene." [MONDO:patterns/disease_series_by_gene] synonym: "GATA4 ventricular septal defect (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "ventricular septal defect (disease) caused by mutation in GATA4" EXACT [] synonym: "ventricular septal defect 1" EXACT [MONDO:Lexical, OMIM:614429] synonym: "ventricular septal defect type 1" EXACT [MONDORULE:1, OMIM:614429] synonym: "VSD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614429] xref: OMIM:614429 {source="MONDO:equivalentTo"} xref: UMLS:C3280777 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614429"} is_a: MONDO:0002070 {source="DC-OMIM:614429", source="MONDO:Redundant", source="OMIM:614429"} ! ventricular septal defect is_a: MONDO:0100009 ! structural congenital heart disease, multiple types - GATA4 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280777 property_value: exactMatch https://omim.org/entry/614429 [Term] id: MONDO:0013747 name: atrioventricular septal defect 4 def: "Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene." [MONDO:patterns/disease_series_by_gene] synonym: "atrioventricular septal defect 4" EXACT [MONDO:Lexical, OMIM:614430] synonym: "atrioventricular septal defect caused by mutation in GATA4" EXACT [MONDO:design_pattern] synonym: "atrioventricular septal defect type 4" EXACT [MONDORULE:1, OMIM:614430] synonym: "AVSD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614430] synonym: "GATA4 atrioventricular septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: OMIM:614430 {source="MONDO:equivalentTo"} xref: UMLS:C3280781 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614430"} is_a: MONDO:0020290 {source="DC-OMIM:614430", source="MONDO:Redundant", source="OMIM:614430"} ! familial atrioventricular septal defect is_a: MONDO:0100009 ! structural congenital heart disease, multiple types - GATA4 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280781 property_value: exactMatch https://omim.org/entry/614430 [Term] id: MONDO:0013748 name: ventricular septal defect 2 def: "Any ventricular septal defect in which the cause of the disease is a mutation in the CITED2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "CITED2 ventricular septal defect (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "ventricular septal defect (disease) caused by mutation in CITED2" EXACT [] synonym: "ventricular septal defect 2" EXACT [MONDO:Lexical, OMIM:614431] synonym: "ventricular septal defect type 2" EXACT [MONDORULE:1, OMIM:614431] synonym: "VSD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614431] xref: OMIM:614431 {source="MONDO:equivalentTo"} is_a: MONDO:0002070 {source="DC-OMIM:614431", source="MONDO:Redundant", source="OMIM:614431"} ! ventricular septal defect property_value: exactMatch https://omim.org/entry/614431 [Term] id: MONDO:0013749 name: ventricular septal defect 3 def: "Any ventricular septal defect in which the cause of the disease is a mutation in the NKX2-5 gene." [MONDO:patterns/disease_series_by_gene] synonym: "NKX2-5 ventricular septal defect (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "ventricular septal defect (disease) caused by mutation in NKX2-5" EXACT [] synonym: "ventricular septal defect 3" EXACT [MONDO:Lexical, OMIM:614432] synonym: "ventricular septal defect type 3" EXACT [MONDORULE:1, OMIM:614432] synonym: "VSD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614432] xref: OMIM:614432 {source="MONDO:equivalentTo"} xref: UMLS:C3280785 {source="OMIM:614432", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0002070 {source="DC-OMIM:614432", source="MONDO:Redundant", source="OMIM:614432"} ! ventricular septal defect property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280785 property_value: exactMatch https://omim.org/entry/614432 [Term] id: MONDO:0013753 name: Charcot-Marie-Tooth disease axonal type 2P def: "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the LRSAM1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare subset: ordo_disease {source="Orphanet:99941", source="Orphanet:300319"} synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2G" EXACT [MONDO:0012070] synonym: "Charcot Marie Tooth disease type 2G" RELATED [GARD:0009195] synonym: "Charcot-Marie-Tooth disease caused by mutation in LRSAM1" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease type 2G" RELATED [GARD:0009195] synonym: "Charcot-Marie-Tooth disease type 2P" EXACT [DOID:0110169] synonym: "Charcot-Marie-Tooth disease, axonal, type 2G" RELATED [GARD:0009195, MONDO:Lexical, OMIM:608591] synonym: "Charcot-Marie-Tooth disease, axonal, type 2G, formerly" RELATED [OMIM:614436] synonym: "Charcot-Marie-Tooth disease, axonal, type 2P" EXACT [MONDO:Lexical, OMIM:614436] synonym: "Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive" RELATED [GARD:0009195] synonym: "Charcot-Marie-Tooth disease, type 4A, axonal form" RELATED [GARD:0009195] synonym: "Charcot-Marie-Tooth neuropathy type 2P" EXACT [DOID:0110169] synonym: "Charcot-Marie-Tooth neuropathy, type 2G" RELATED [OMIM:608591] synonym: "Charcot-Marie-Tooth neuropathy, type 2P" EXACT [OMIM:614436] synonym: "Charcot-Marie-Toothe disease, axonal, type 2P" EXACT [GARD:0012435] synonym: "CMT 2G" RELATED [GARD:0009195] synonym: "CMT2G" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608591, Orphanet:99941] synonym: "CMT2P" EXACT ABBREVIATION [DOID:0110169, MONDO:Lexical, OMIM:614436, Orphanet:300319] synonym: "LRSAM1 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110169 {source="MONDO:equivalentTo"} xref: OMIM:608591 {source="Orphanet:99941", source="MONDO:equivalentObsolete", source="Orphanet:99941/e"} xref: OMIM:614436 {source="Orphanet:300319/e", source="MONDO:equivalentTo", source="Orphanet:300319", source="DOID:0110169"} xref: Orphanet:300319 {source="OMIM:614436", source="MONDO:equivalentTo", source="DOID:0110169"} xref: Orphanet:99941 {source="GARD:0009195", source="MONDO:equivalentTo", source="OMIM:608591"} xref: SCTID:719511005 {source="MONDO:equivalentTo"} xref: UMLS:C1837805 {source="Orphanet:99941", source="MONDO:equivalentTo", source="OMIM:608591"} xref: UMLS:C3280797 {source="OMIM:614436", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4304674 {source="MONDO:equivalentTo"} is_a: MONDO:0018993 {source="DOID:0110169", source="Orphanet:300319", source="Orphanet:99941"} ! Charcot-Marie-Tooth disease type 2 property_value: exactMatch DOID:0110169 property_value: exactMatch http://identifiers.org/snomedct/719511005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837805 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280797 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304674 property_value: exactMatch https://omim.org/entry/614436 property_value: exactMatch Orphanet:300319 property_value: exactMatch Orphanet:99941 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12435/charcot-marie-tooth-disease-type-2p xsd:anyURI {source="GARD:0012435"} [Term] id: MONDO:0013755 name: PYCR1-related de Barsy syndrome def: "Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_etiological_subtype {source="Orphanet:293633"} synonym: "ARCL3B" EXACT ABBREVIATION [DOID:0070138, MONDO:Lexical, OMIM:614438] synonym: "autosomal recessive cutis laxa type IIIB" RELATED [DOID:0070138] synonym: "cutis laxa, autosomal recessive, type 3B" RELATED [OMIM:614438] synonym: "cutis laxa, autosomal recessive, type IIIB" RELATED [MONDO:Lexical, OMIM:614438] synonym: "De Barsy syndrome B" EXACT [DOID:0070138, OMIM:614438] synonym: "de Barsy syndrome caused by mutation in PYCR1" EXACT [MONDO:design_pattern] synonym: "PYCR1 de Barsy syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "PYCR1 deficiency" EXACT [Orphanet:293633] synonym: "pyrroline-5-carboxylate reductase 1 deficiency" EXACT [Orphanet:293633] xref: DOID:0070138 {source="MONDO:equivalentTo"} xref: OMIM:614438 {source="Orphanet:293633/e", source="MONDO:equivalentTo", source="DOID:0070138", source="Orphanet:293633"} xref: Orphanet:293633 {source="MONDO:equivalentTo", source="OMIM:614438"} xref: UMLS:C3280799 {source="MONDO:equivalentTo", source="OMIM:614438", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0017569 {source="DOID:0070138", source="MONDO:Redundant", source="Orphanet:293633"} ! de Barsy syndrome is_a: MONDO:0100237 {source="DOID:0070138/inferred", source="MONDO:Redundant", source="OMIM:614438", source="Orphanet:293633/inferred"} ! inherited cutis laxa property_value: exactMatch DOID:0070138 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280799 property_value: exactMatch https://omim.org/entry/614438 property_value: exactMatch Orphanet:293633 [Term] id: MONDO:0013758 name: Charcot-Marie-Tooth disease dominant intermediate E def: "Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterized by the association of Charcot-Marie-Tooth disease (hereditary peripheral neuropathy) with nephropathy. So far, around 15 cases have been described. All patients had proteinuria (with or without microhematuria) at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. The mode of transmission is unknown." [Orphanet:93114] comment: Not in the OMIM series. {source="OMIM:614455"} subset: ordo_disease {source="Orphanet:93114"} synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type E" EXACT [DOID:0110205] synonym: "Charcot-Marie-Tooth disease - nephropathy" RELATED [GARD:0012011] synonym: "Charcot-Marie-Tooth disease dominant intermediate E" EXACT [] synonym: "Charcot-Marie-Tooth disease dominant intermediate type E" EXACT [DOID:0110205, MONDORULE:1] synonym: "Charcot-Marie-Tooth disease, dominant intermediate E" RELATED [MONDO:Lexical, OMIM:614455] synonym: "Charcot-Marie-Tooth disease, dominant Intermediate type E" EXACT [MONDORULE:1, OMIM:614455] synonym: "Charcot-Marie-Tooth disease-nephropathy syndrome" EXACT [DOID:0110205, Orphanet:93114] synonym: "Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis" EXACT [DOID:0110205, OMIM:614455] synonym: "CMTDIE" EXACT ABBREVIATION [DOID:0110205, MONDO:Lexical, OMIM:614455, Orphanet:93114] xref: DOID:0110205 {source="MONDO:equivalentTo"} xref: OMIM:614455 {source="DOID:0110205", source="MONDO:equivalentTo", source="Orphanet:93114", source="Orphanet:93114/e"} xref: Orphanet:93114 {source="DOID:0110205", source="OMIM:614455", source="MONDO:equivalentTo"} xref: SCTID:722294004 {source="MONDO:equivalentTo"} xref: UMLS:C3280845 {source="OMIM:614455", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4302667 {source="MONDO:equivalentTo"} is_a: MONDO:0019548 {source="Orphanet:93114", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant intermediate Charcot-Marie-Tooth disease property_value: exactMatch DOID:0110205 property_value: exactMatch http://identifiers.org/snomedct/722294004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280845 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4302667 property_value: exactMatch https://omim.org/entry/614455 property_value: exactMatch Orphanet:93114 [Term] id: MONDO:0013759 name: melanoma, cutaneous malignant, susceptibility to, 8 def: "An inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer." [Orphanet:293822] subset: ordo_disease {source="Orphanet:293822"} subset: predisposition synonym: "CMM8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614456] synonym: "melanoma and renal cell carcinoma, susceptibility to" RELATED [OMIM:614456] synonym: "melanoma, cutaneous malignant, susceptibility to, 8" EXACT [MONDO:Lexical, OMIM:614456] synonym: "melanoma, cutaneous malignant, susceptibility to, type 8" EXACT [MONDORULE:1, OMIM:614456] synonym: "MITF-related melanoma and renal cell carcinoma predisposition syndrome" EXACT [Orphanet:293822] synonym: "susceptibility to cutaneous malignant melanoma 8" RELATED [OMIM:614456] xref: OMIM:614456 {source="Orphanet:293822/e", source="MONDO:equivalentTo", source="Orphanet:293822"} xref: Orphanet:293822 {source="OMIM:614456", source="MONDO:equivalentTo"} is_a: MONDO:0020573 {source="OMIM:614456"} ! inherited disease susceptibility relationship: predisposes_towards EFO:0000389 {source="https://orcid.org/0000-0002-4142-7153"} ! cutaneous melanoma property_value: exactMatch https://omim.org/entry/614456 property_value: exactMatch Orphanet:293822 property_value: excluded_subClassOf MONDO:0015356 {source="Orphanet:293822"} property_value: excluded_subClassOf MONDO:0024462 {source="OMIM:614456"} [Term] id: MONDO:0013760 name: congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome subset: ordo_disease {source="Orphanet:352333"} synonym: "congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome" EXACT [Orphanet:352333] synonym: "ichthyosis, spastic quadriplegia, and intellectual disability" RELATED [MONDO:Lexical, OMIM:614457] synonym: "ichthyosis, spastic quadriplegia, and mental retardation" RELATED DEPRECATED [MONDO:Lexical, OMIM:614457] synonym: "ISQMR" RELATED DEPRECATED [MONDO:Lexical, OMIM:614457] xref: OMIM:614457 {source="Orphanet:352333", source="MONDO:equivalentTo", source="Orphanet:352333/e"} xref: Orphanet:352333 {source="OMIM:614457", source="MONDO:equivalentTo"} xref: UMLS:C3280856 {source="OMIM:614457", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015905 ! syndromic dyslipidemia is_a: MONDO:0017270 ! autosomal ichthyosis syndrome is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280856 property_value: exactMatch https://omim.org/entry/614457 property_value: exactMatch Orphanet:352333 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0013761 name: childhood encephalopathy due to thiamine pyrophosphokinase deficiency subset: ordo_disease {source="Orphanet:293955"} synonym: "childhood encephalopathy due to thiamine pyrophosphokinase deficiency" EXACT [] synonym: "encephalopathy, episodic, due to thiamine pyrophosphokinase deficiency" RELATED [OMIM:614458] synonym: "thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)" RELATED [MONDO:Lexical, OMIM:614458] synonym: "THMD5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614458] xref: OMIM:614458 {source="Orphanet:293955/e", source="MONDO:equivalentTo", source="Orphanet:293955"} xref: Orphanet:293955 {source="OMIM:614458", source="MONDO:equivalentTo"} xref: UMLS:C3280866 {source="OMIM:614458", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000152 {source="DC-OMIM:614458", source="OMIM:614458"} ! thiamine-responsive dysfunction syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280866 property_value: exactMatch https://omim.org/entry/614458 property_value: exactMatch Orphanet:293955 [Term] id: MONDO:0013762 name: lipoic acid synthetase deficiency def: "Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/12678/lipoic-acid-synthetase-deficiency] subset: gard_rare {source="GARD:0012678"} subset: ordo_disease {source="Orphanet:401859"} synonym: "HGCLAS" RELATED ABBREVIATION [OMIM:614462] synonym: "hyperglycinemia, lactic acidosis, and seizures" RELATED [OMIM:614462] synonym: "PDHLD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614462] synonym: "pyruvate dehydrogenase lipoic acid synthetase deficiency" RELATED [GARD:0012678, MONDO:Lexical, OMIM:614462] xref: OMIM:614462 {source="MONDO:equivalentTo", source="Orphanet:401859", source="Orphanet:401859/e"} xref: Orphanet:401859 {source="MONDO:equivalentTo", source="OMIM:614462"} xref: UMLS:C3280887 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614462"} is_a: MONDO:0018424 {source="MONDO:Redundant", source="Orphanet:401859"} ! inherited lipoic acid biosynthesis defect is_a: MONDO:0019169 {source="DC-OMIM:614462", source="OMIM:614462"} ! pyruvate dehydrogenase deficiency is_a: MONDO:0019213 ! cerebral organic aciduria property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280887 property_value: exactMatch https://omim.org/entry/614462 property_value: exactMatch Orphanet:401859 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12678/lipoic-acid-synthetase-deficiency xsd:anyURI {source="GARD:0012678"} [Term] id: MONDO:0013767 name: autoimmune lymphoproliferative syndrome type 4 def: "RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia." [Orphanet:268114] subset: ordo_disease {source="Orphanet:268114"} synonym: "ALPS type 4" EXACT [DOID:0110117, Orphanet:268114] synonym: "ALPS type IV" EXACT [DOID:0110117, Orphanet:268114] synonym: "ALPS4" EXACT ABBREVIATION [DOID:0110117] synonym: "autoimmune lymphoproliferative syndrome caused by mutation in NRAS" EXACT [MONDO:design_pattern] synonym: "autoimmune lymphoproliferative syndrome type 4" EXACT [Orphanet:268114] synonym: "autoimmune lymphoproliferative syndrome type IV" EXACT [DOID:0110117, Orphanet:268114] synonym: "autoimmune lymphoproliferative syndrome, type 4" RELATED [OMIM:614470] synonym: "NRAS autoimmune lymphoproliferative syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "RALD" EXACT ABBREVIATION [DOID:0110117, MONDO:Lexical, OMIM:614470, Orphanet:268114] synonym: "RAS-associated autoimmune leukoproliferative disease" EXACT [DOID:0110117] synonym: "RAS-associated autoimmune leukoproliferative disorder" EXACT [DOID:0110117, MONDO:Lexical, OMIM:614470] synonym: "RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic" EXACT [OMIM:614470, OMIM:genemap2] xref: DOID:0110117 {source="MONDO:equivalentTo"} xref: OMIM:614470 {source="DOID:0110117", source="Orphanet:268114", source="MONDO:equivalentTo", source="Orphanet:268114/e"} xref: Orphanet:268114 {source="DOID:0110117", source="MONDO:equivalentTo", source="OMIM:614470"} xref: SCTID:723508002 {source="MONDO:equivalentTo"} xref: UMLS:C2674723 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614470"} is_a: MONDO:0017979 {source="DC-OMIM:614470", source="DOID:0110117", source="MONDO:Redundant"} ! autoimmune lymphoproliferative syndrome property_value: exactMatch DOID:0110117 property_value: exactMatch http://identifiers.org/snomedct/723508002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2674723 property_value: exactMatch https://omim.org/entry/614470 property_value: exactMatch Orphanet:268114 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013771 name: transient infantile hypertriglyceridemia and hepatosteatosis subset: ordo_disease {source="Orphanet:300293"} synonym: "HTGTI" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614480] synonym: "hypertriglyceridemia, transient infantile" RELATED [MONDO:Lexical, OMIM:614480] synonym: "transient infantile hypertriglyceridemia and fatty liver" EXACT [Orphanet:300293] synonym: "transient infantile hypertriglyceridemia and hepatosteatosis" EXACT [] xref: OMIM:614480 {source="Orphanet:300293/e", source="MONDO:equivalentTo", source="Orphanet:300293"} xref: Orphanet:300293 {source="MONDO:equivalentTo", source="OMIM:614480"} xref: UMLS:C3280953 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614480"} is_a: MONDO:0015508 {source="Orphanet:300293"} ! hereditary parenchymatous liver disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280953 property_value: exactMatch https://omim.org/entry/614480 property_value: exactMatch Orphanet:300293 [Term] id: MONDO:0013772 name: congenital cataract-hearing loss-severe developmental delay syndrome subset: ordo_disease {source="Orphanet:300313"} synonym: "CCHLND" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614482] synonym: "congenital cataract-deafness-severe developmental delay syndrome" EXACT [Orphanet:300313] synonym: "congenital cataracts, hearing loss, and neurodegeneration" RELATED [MONDO:Lexical, OMIM:614482] synonym: "lethal neurodegenerative disorder due to copper transport defect" EXACT [Orphanet:300313] xref: OMIM:614482 {source="Orphanet:300313", source="MONDO:equivalentTo", source="Orphanet:300313/e"} xref: Orphanet:300313 {source="MONDO:equivalentTo", source="OMIM:614482"} xref: UMLS:C3280965 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614482"} is_a: EFO:0000508 {source="OMIM:614482"} ! genetic disorder relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280965 property_value: exactMatch https://omim.org/entry/614482 property_value: exactMatch Orphanet:300313 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0013775 name: thrombomodulin-related bleeding disorder subset: ordo_disease {source="Orphanet:436169"} synonym: "THBD-related bleeding disorder" EXACT [Orphanet:436169] synonym: "THBD-related coagulopathy" EXACT [Orphanet:436169] synonym: "THPH12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614486] synonym: "thrombomodulin-related coagulopathy" EXACT [Orphanet:436169] synonym: "thrombophilia 12 due to thrombomodulin defect" EXACT [OMIM:614486, OMIM:genemap2] synonym: "thrombophilia due to thrombomodulin defect" RELATED [MONDO:Lexical, OMIM:614486] xref: DOID:0111908 {source="MONDO:equivalentTo"} xref: MESH:C566057 {source="MONDO:equivalentTo"} xref: OMIM:614486 {source="Orphanet:436169/e", source="MONDO:equivalentTo", source="Orphanet:436169"} xref: Orphanet:436169 {source="MONDO:equivalentTo"} xref: UMLS:C3280976 {source="OMIM:614486", source="MONDO:equivalentTo", source="Orphanet:436169"} is_a: MONDO:0002242 {source="MONDO:0019039-obsoleted"} ! coagulation protein disease is_a: MONDO:0002243 ! hemorrhagic disease is_a: MONDO:0100240 {source="DC-OMIM:614486", source="MESH:C566057", source="OMIM:614486"} ! inherited thrombophilia property_value: exactMatch DOID:0111908 property_value: exactMatch http://identifiers.org/mesh/C566057 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280976 property_value: exactMatch https://omim.org/entry/614486 property_value: exactMatch Orphanet:436169 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013776 name: spastic ataxia 5 def: "Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated." [Orphanet:313772] subset: ordo_disease {source="Orphanet:313772"} synonym: "AFG3L2 autosomal recessive spastic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome" EXACT [Orphanet:313772] synonym: "AFG3L2-related spastic ataxia-neuropathy syndrome" EXACT [Orphanet:313772] synonym: "autosomal recessive spastic ataxia caused by mutation in AFG3L2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic ataxia type 5" EXACT [Orphanet:313772] synonym: "early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome" RELATED [Orphanet:313772] synonym: "spastic ataxia 5, autosomal recessive" RELATED [MONDO:Lexical, OMIM:614487] synonym: "spastic ataxia type 5" EXACT [DOID:0050944, MONDORULE:1] synonym: "SPAX5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614487, Orphanet:313772] xref: DOID:0050944 {source="MONDO:equivalentTo"} xref: ICD10CM:G11.4 {source="MONDO:relatedTo", source="Orphanet:313772/attributed", source="Orphanet:313772/ntbt", source="Orphanet:313772"} xref: OMIM:614487 {source="Orphanet:313772/e", source="MONDO:equivalentTo", source="DOID:0050944", source="Orphanet:313772"} xref: Orphanet:313772 {source="OMIM:614487", source="MONDO:equivalentTo"} xref: UMLS:C3280977 {source="OMIM:614487", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0017847 {source="MONDO:Redundant", source="Orphanet:313772"} ! autosomal recessive spastic ataxia is_a: MONDO:0018158 {source="Orphanet:313772"} ! mitochondrial DNA depletion syndrome property_value: exactMatch DOID:0050944 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280977 property_value: exactMatch https://omim.org/entry/614487 property_value: exactMatch Orphanet:313772 [Term] id: MONDO:0013777 name: pseudohypoaldosteronism type 2B def: "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK4 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_etiological_subtype {source="Orphanet:88939"} synonym: "PHA2B" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614491, Orphanet:88939] synonym: "pseudohypoaldosteronism type 2 caused by mutation in WNK4" EXACT [MONDO:design_pattern] synonym: "pseudohypoaldosteronism, type 2B" RELATED [OMIM:614491] synonym: "pseudohypoaldosteronism, type IIB" RELATED [MONDO:Lexical, OMIM:614491] synonym: "WNK4 pseudohypoaldosteronism type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MESH:C564161 {source="MONDO:equivalentTo"} xref: OMIM:614491 {source="Orphanet:88939/e", source="MONDO:equivalentTo", source="Orphanet:88939"} xref: Orphanet:88939 {source="MONDO:equivalentTo", source="OMIM:614491"} xref: UMLS:C1840390 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:88939", source="OMIM:614491"} is_a: MONDO:0019162 {source="MONDO:Redundant", source="OMIM:614491", source="Orphanet:88939"} ! pseudohypoaldosteronism type 2 property_value: exactMatch http://identifiers.org/mesh/C564161 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840390 property_value: exactMatch https://omim.org/entry/614491 property_value: exactMatch Orphanet:88939 [Term] id: MONDO:0013778 name: pseudohypoaldosteronism type 2C def: "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK1 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_etiological_subtype {source="Orphanet:88940"} synonym: "PHA2C" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614492, Orphanet:88940] synonym: "pseudohypoaldosteronism type 2 caused by mutation in WNK1" EXACT [MONDO:design_pattern] synonym: "pseudohypoaldosteronism, type 2C" RELATED [OMIM:614492] synonym: "pseudohypoaldosteronism, type IIC" RELATED [MONDO:Lexical, OMIM:614492] synonym: "WNK1 pseudohypoaldosteronism type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MESH:C564162 {source="MONDO:equivalentTo"} xref: OMIM:614492 {source="Orphanet:88940", source="MONDO:equivalentTo", source="Orphanet:88940/e"} xref: Orphanet:88940 {source="MONDO:equivalentTo", source="OMIM:614492"} xref: UMLS:C1840391 {source="Orphanet:88940", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614492"} is_a: MONDO:0019162 {source="MONDO:Redundant", source="OMIM:614492", source="Orphanet:88940"} ! pseudohypoaldosteronism type 2 property_value: exactMatch http://identifiers.org/mesh/C564162 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840391 property_value: exactMatch https://omim.org/entry/614492 property_value: exactMatch Orphanet:88940 [Term] id: MONDO:0013781 name: pseudohypoaldosteronism type 2D def: "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the KLHL3 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_etiological_subtype {source="Orphanet:300525"} synonym: "familial hyperkalemic hypertension" RELATED [OMIM:614495] synonym: "KLHL3 pseudohypoaldosteronism type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "PHA2D" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614495, Orphanet:300525] synonym: "pseudohypoaldosteronism type 2 caused by mutation in KLHL3" EXACT [MONDO:design_pattern] synonym: "pseudohypoaldosteronism, type 2D" RELATED [OMIM:614495] synonym: "pseudohypoaldosteronism, type IID" RELATED [MONDO:Lexical, OMIM:614495] xref: OMIM:614495 {source="MONDO:equivalentTo", source="Orphanet:300525", source="Orphanet:300525/e"} xref: Orphanet:300525 {source="MONDO:equivalentTo", source="OMIM:614495"} xref: UMLS:C3469605 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614495"} is_a: MONDO:0019162 {source="MONDO:Redundant", source="OMIM:614495", source="Orphanet:300525"} ! pseudohypoaldosteronism type 2 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3469605 property_value: exactMatch https://omim.org/entry/614495 property_value: exactMatch Orphanet:300525 [Term] id: MONDO:0013782 name: pseudohypoaldosteronism type 2E def: "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the CUL3 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_etiological_subtype {source="Orphanet:300530"} synonym: "CUL3 pseudohypoaldosteronism type 2" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Cul3 pseudohypoaldosteronism type 2" EXACT [MONDO:design_pattern] synonym: "PHA2E" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614496, Orphanet:300530] synonym: "pseudohypoaldosteronism type 2 caused by mutation in CUL3" EXACT [] synonym: "pseudohypoaldosteronism type 2 caused by mutation in Cul3" EXACT [MONDO:design_pattern] synonym: "pseudohypoaldosteronism, type 2E" RELATED [OMIM:614496] synonym: "pseudohypoaldosteronism, type IIE" RELATED [MONDO:Lexical, OMIM:614496] xref: OMIM:614496 {source="Orphanet:300530", source="MONDO:equivalentTo", source="Orphanet:300530/e"} xref: Orphanet:300530 {source="MONDO:equivalentTo", source="OMIM:614496"} xref: UMLS:C3469606 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614496"} is_a: MONDO:0019162 {source="MONDO:Redundant", source="OMIM:614496", source="Orphanet:300530"} ! pseudohypoaldosteronism type 2 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3469606 property_value: exactMatch https://omim.org/entry/614496 property_value: exactMatch Orphanet:300530 [Term] id: MONDO:0013784 name: neonatal-onset encephalopathy with rigidity and seizures subset: ordo_malformation_syndrome {source="Orphanet:435845"} synonym: "lethal neonatal rigidity-multifocal seizure syndrome" EXACT [Orphanet:435845] synonym: "lethal neonatal spasticity-epileptic encephalopathy syndrome" EXACT [Orphanet:435845] synonym: "neonatal-onset encephalopathy with rigidity and seizures" EXACT [] synonym: "rigidity and multifocal seizure syndrome, lethal neonatal" RELATED [MONDO:Lexical, OMIM:614498] synonym: "RMFSL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614498] xref: EFO:0009144 {source="MONDO:equivalentTo"} xref: OMIM:614498 {source="Orphanet:435845", source="MONDO:equivalentTo", source="Orphanet:435845/e"} xref: Orphanet:435845 {source="MONDO:equivalentTo"} xref: UMLS:C3281029 {source="OMIM:614498", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0100062 {source="https://orcid.org/0000-0001-5751-2224"} ! developmental and epileptic encephalopathy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281029 property_value: exactMatch https://omim.org/entry/614498 property_value: exactMatch Orphanet:435845 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5125 xsd:anyURI [Term] id: MONDO:0013789 name: DDOST-congenital disorder of glycosylation def: "DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1)." [Orphanet:300536] subset: ordo_disease {source="Orphanet:300536"} synonym: "carbohydrate deficient glycoprotein syndrome type" RELATED [GARD:0012398] synonym: "carbohydrate deficient glycoprotein syndrome type Ir" EXACT [Orphanet:300536] synonym: "CDG syndrome type Ir" EXACT [Orphanet:300536] synonym: "CDG-Ir" EXACT [Orphanet:300536] synonym: "CDG1R" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614507, Orphanet:300536] synonym: "congenital disorder of glycosylation type 1r" EXACT [Orphanet:300536] synonym: "congenital disorder of glycosylation type Ir" EXACT [Orphanet:300536] synonym: "congenital disorder of glycosylation, type Ir" RELATED [MONDO:Lexical, OMIM:614507] synonym: "DDOST-CDG" EXACT ABBREVIATION [Orphanet:300536] synonym: "DDOST-CDG (CDG-Ir)" RELATED [GARD:0012398] synonym: "DDOST-congenital disorder of glycosylation" EXACT [] xref: DOID:0080569 {source="MONDO:equivalentTo"} xref: OMIM:614507 {source="MONDO:equivalentTo", source="Orphanet:300536", source="Orphanet:300536/e"} xref: Orphanet:300536 {source="MONDO:equivalentTo", source="OMIM:614507"} xref: SCTID:733083006 {source="MONDO:equivalentTo"} xref: UMLS:C3281084 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614507"} is_a: EFO:0005545 {source="DC-OMIM:614507"} ! congenital disorder of glycosylation type I is_a: MONDO:0017740 {source="Orphanet:300536"} ! disorder of protein N-glycosylation relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch DOID:0080569 property_value: exactMatch http://identifiers.org/snomedct/733083006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281084 property_value: exactMatch https://omim.org/entry/614507 property_value: exactMatch Orphanet:300536 [Term] id: MONDO:0013796 name: chromosome 17q12 duplication syndrome def: "17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia." [Orphanet:261272] subset: ordo_malformation_syndrome {source="Orphanet:261272"} synonym: "17q12 duplication" RELATED [GARD:0013296] synonym: "17q12 microduplication" RELATED [GARD:0013296] synonym: "17q12 microduplication syndrome" EXACT [DOID:0060433] synonym: "chromosome 17q12 duplication syndrome" EXACT [OMIM:614526] synonym: "dup(17)(q12)" EXACT [Orphanet:261272] synonym: "recurrent duplication of 17q12" RELATED [GARD:0013296] synonym: "trisomy 17q12" EXACT [DOID:0060433, Orphanet:261272] xref: DOID:0060433 {source="MONDO:equivalentTo"} xref: OMIM:614526 {source="Orphanet:261272", source="DOID:0060433", source="MONDO:equivalentTo", source="Orphanet:261272/e"} xref: Orphanet:261272 {source="DOID:0060433", source="MONDO:equivalentTo", source="OMIM:614526"} xref: SCTID:764435003 {source="MONDO:equivalentTo"} xref: UMLS:C3281137 {source="MONDO:equivalentTo", source="OMIM:614526", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0016967 {source="Orphanet:261272"} ! partial duplication of the long arm of chromosome 17 property_value: exactMatch DOID:0060433 property_value: exactMatch http://identifiers.org/snomedct/764435003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281137 property_value: exactMatch https://omim.org/entry/614526 property_value: exactMatch Orphanet:261272 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI [Term] id: MONDO:0013797 name: chromosome 17q12 deletion syndrome def: "17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transcient hypercalcaemia have also been reported." [Orphanet:261265] subset: ordo_malformation_syndrome {source="Orphanet:261265"} synonym: "17q12 deletion syndrome" RELATED [GARD:0013297] synonym: "17q12 microdeletion syndrome" EXACT [DOID:0060404] synonym: "17q12 recurrent deletion syndrome" RELATED [GARD:0013297] synonym: "chromosome 17q12 deletion syndrome" EXACT [OMIM:614527] synonym: "Del(17)(q12)" EXACT [Orphanet:261265] synonym: "monosomy 17q12" EXACT [Orphanet:261265] xref: DOID:0060404 {source="MONDO:equivalentTo"} xref: OMIM:614527 {source="MONDO:equivalentTo", source="Orphanet:261265", source="DOID:0060404", source="Orphanet:261265/e"} xref: Orphanet:261265 {source="MONDO:equivalentTo", source="DOID:0060404", source="OMIM:614527"} xref: SCTID:733519008 {source="MONDO:equivalentTo"} xref: UMLS:C3281138 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614527"} xref: UMLS:C4518822 {source="MONDO:equivalentTo"} is_a: MONDO:0016915 {source="Orphanet:261265"} ! partial deletion of the long arm of chromosome 17 property_value: exactMatch DOID:0060404 property_value: exactMatch http://identifiers.org/snomedct/733519008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281138 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518822 property_value: exactMatch https://omim.org/entry/614527 property_value: exactMatch Orphanet:261265 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0013800 name: Ehlers-Danlos syndrome, kyphoscoliotic and deafness type def: "A form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment." [Orphanet:300179] subset: ordo_disease {source="Orphanet:300179"} synonym: "EDS with progressive kyphoscoliosis, myopathy, and deafness" EXACT [Orphanet:300179] synonym: "EDS with progressive kyphoscoliosis, myopathy, and hearing loss" EXACT [Orphanet:300179] synonym: "EDS, kyphoscoliotic and hearing loss type" EXACT [Orphanet:300179] synonym: "EDSKMH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614557] synonym: "EDSKSCL2" RELATED ABBREVIATION [OMIM:614557] synonym: "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness" EXACT [Orphanet:300179] synonym: "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss" EXACT [MONDO:Lexical, OMIM:614557, Orphanet:300179] synonym: "Ehlers-Danlos syndrome, kyphoscoliotic and deafness type" EXACT [] synonym: "Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type" EXACT [Orphanet:300179] synonym: "Ehlers-Danlos syndrome, kyphoscoliotic type, 2" EXACT [OMIM:614557] xref: OMIM:614557 {source="Orphanet:300179", source="MONDO:equivalentTo", source="Orphanet:300179/e"} xref: Orphanet:300179 {source="OMIM:614557", source="MONDO:equivalentTo"} xref: SCTID:720859009 {source="MONDO:equivalentTo"} xref: UMLS:C3281160 {source="OMIM:614557", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0034024 {source="https://orcid.org/0000-0001-5493-2602"} ! kyphoscoliotic Ehlers-Danlos syndrome is_a: MONDO:0800086 {source="PMID:31633310"} ! primary bone dysplasia with multiple joint dislocations property_value: exactMatch http://identifiers.org/snomedct/720859009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281160 property_value: exactMatch https://omim.org/entry/614557 property_value: exactMatch Orphanet:300179 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4220 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0013802 name: infantile cerebellar-retinal degeneration def: "Infantile cerebellar retinal degeneration (ICRD) is a genetic condition present from birth (congenital) that involves the brain and eyes. Individuals with this condition usually develop symptoms around six months of age including developmental delays, low muscle tone (hypotonia), and seizures. Other symptoms may include head bobbing, abnormal muscle twitching and movement, and loss of brain cells in the main part of the brain called the cerebellum. Eye findings in individuals with this condition may include retinal degeneration (weakening of the layer of tissue in the back of the eye that senses light), strabismus (crossed eyes), and nystagmus (fast, uncontrollable movements of the eyes). ICRD is caused by mutations in the ACO2 gene and is inherited in an autosomal recessive manner. While there is still no cure for this condition, treatment options will depend on the type and severity of symptoms." [https://rarediseases.info.nih.gov/diseases/13264/infantile-cerebellar-retinal-degeneration] subset: gard_rare {source="GARD:0013264"} subset: ordo_disease {source="Orphanet:313850"} synonym: "ICRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614559] synonym: "infantile cerebellar retinal degeneration" RELATED [GARD:0013264] synonym: "infantile cerebellar-retinal degeneration" EXACT [MONDO:Lexical, OMIM:614559] xref: DOID:0050883 {source="MONDO:equivalentTo"} xref: OMIM:614559 {source="Orphanet:313850", source="DOID:0050883", source="MONDO:equivalentTo", source="Orphanet:313850/e"} xref: Orphanet:313850 {source="MONDO:equivalentTo", source="OMIM:614559"} xref: UMLS:C3281192 {source="MONDO:equivalentTo", source="OMIM:614559", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0004884 ! eye degenerative disorder is_a: MONDO:0016790 {source="Orphanet:313850"} ! tricarboxylic acid cycle disorder is_a: MONDO:0019118 {source="MONDO:Redundant", source="Orphanet:313850"} ! inherited retinal dystrophy is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:313850"} ! inherited neurodegenerative disorder property_value: exactMatch DOID:0050883 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281192 property_value: exactMatch https://omim.org/entry/614559 property_value: exactMatch Orphanet:313850 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13264/infantile-cerebellar-retinal-degeneration xsd:anyURI {source="GARD:0013264"} [Term] id: MONDO:0013805 name: intellectual disability, autosomal dominant 13 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DYNC1H1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant intellectual disability 13" EXACT [DOID:0070043] synonym: "autosomal dominant mental retardation 13" EXACT DEPRECATED [DOID:0070043] synonym: "autosomal dominant non-syndromic intellectual disability 13" RELATED [DOID:0070043] synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in DYNC1H1" EXACT [MONDO:design_pattern] synonym: "DYNC1H1 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "intellectual disability, autosomal dominant 13" EXACT [MONDO:Lexical, OMIM:614563] synonym: "intellectual disability, autosomal dominant 13, with neuronal migration defects" EXACT [DOID:0070043] synonym: "intellectual disability, autosomal dominant type 13" EXACT [MONDORULE:2, OMIM:614563] synonym: "intellectual disability, autosomal dominant, 13, with neuronal migration defects" RELATED [OMIM:614563] synonym: "mental retardation, autosomal dominant 13" RELATED DEPRECATED [MONDO:Lexical, OMIM:614563] synonym: "mental retardation, autosomal dominant 13, with neuronal migration defects" EXACT DEPRECATED [DOID:0070043] synonym: "mental retardation, autosomal dominant type 13" EXACT DEPRECATED [MONDORULE:2, OMIM:614563] synonym: "mental retardation, autosomal dominant, 13, with neuronal migration defects" RELATED DEPRECATED [OMIM:614563] synonym: "MRD13" EXACT ABBREVIATION [DOID:0070043, MONDO:Lexical, OMIM:614563] xref: DOID:0070043 {source="MONDO:equivalentTo"} xref: OMIM:614563 {source="DOID:0070043", source="MONDO:equivalentTo"} xref: UMLS:C3281202 {source="OMIM:614563", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0100172 {source="MONDO:Redundant", source="OMIM:614563"} ! intellectual disability, autosomal dominant property_value: exactMatch DOID:0070043 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281202 property_value: exactMatch https://omim.org/entry/614563 [Term] id: MONDO:0013806 name: familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome subset: ordo_disease {source="Orphanet:313846"} synonym: "cutaneous telangiectasia and cancer syndrome, familial" RELATED [MONDO:Lexical, OMIM:614564] synonym: "familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome" RELATED [Orphanet:313846] synonym: "familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome" EXACT [] synonym: "FCTCS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614564] synonym: "telangiectasia, cutaneous, and cancer syndrome, familial" RELATED [OMIM:614564] xref: OMIM:614564 {source="MONDO:equivalentTo", source="Orphanet:313846", source="Orphanet:313846/e"} xref: Orphanet:313846 {source="OMIM:614564", source="MONDO:equivalentTo"} xref: UMLS:C3281203 {source="OMIM:614564", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015356 {source="Orphanet:313846"} ! hereditary neoplastic syndrome is_a: MONDO:0019293 {source="Orphanet:313846"} ! skin vascular disease is_a: MONDO:0100118 ! hereditary skin disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281203 property_value: exactMatch https://omim.org/entry/614564 property_value: exactMatch Orphanet:313846 [Term] id: MONDO:0013808 name: Maffucci syndrome def: "Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas." [Orphanet:163634] subset: gard_rare {source="GARD:0006958"} subset: ordo_disease {source="Orphanet:163634"} synonym: "chondrodysplasia with hemangioma" EXACT [NCIT:C3213] synonym: "Chondroplasia angiomatosis" EXACT [NCIT:C3213] synonym: "Dyschondrodysplasia with hemangiomas" RELATED [GARD:0006958] synonym: "Dyschondroplasia and cavernous hemangioma" EXACT [NCIT:C3213] synonym: "enchondromatosis with hemangiomata" EXACT [NCIT:C3213] synonym: "enchondromatosis with multiple cavernous hemangiomas" RELATED [GARD:0006958] synonym: "hemangiomata with Dyschondroplasia" EXACT [NCIT:C3213] synonym: "hemangiomatosis Chondrodystrophica" RELATED [GARD:0006958] synonym: "Kast syndrome" RELATED [GARD:0006958] synonym: "Maffucci syndrome" EXACT [OMIM:614569] synonym: "Maffucci type enchondromatosis" EXACT [https://orcid.org/0000-0002-3302-4610] synonym: "Maffucci's anomalad" EXACT [NCIT:C3213] synonym: "multiple Angiomas and Endochondromas" RELATED [GARD:0006958] synonym: "multiple enchondromatosis, Maffucci type" RELATED [OMIM:614569] xref: DOID:0060221 {source="MONDO:equivalentTo"} xref: NCIT:C3213 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: OMIM:614569 {source="Orphanet:163634/e", source="DOID:0060221", source="MONDO:equivalentTo", source="Orphanet:163634"} xref: Orphanet:163634 {source="DOID:0060221", source="MONDO:equivalentTo", source="OMIM:614569"} xref: SCTID:46041001 {source="MONDO:equivalentTo"} xref: UMLS:C0024454 {source="Orphanet:163634/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614569", source="NCIT:C3213", source="Orphanet:163634"} is_a: MONDO:0015356 {source="Orphanet:163634"} ! hereditary neoplastic syndrome is_a: MONDO:0015950 ! inherited skin tumor is_a: MONDO:0016229 {source="MONDO:Entailed", source="Orphanet:163634", source="Orphanet:163634/inferred"} ! hereditary vascular anomaly is_a: MONDO:0019293 {source="Orphanet:163634"} ! skin vascular disease is_a: MONDO:0019716 {source="Orphanet:163634"} ! overgrowth syndrome is_a: MONDO:0023603 ! hereditary disorder of connective tissue is_a: MONDO:0024499 ! vascular bone neoplasm property_value: exactMatch DOID:0060221 property_value: exactMatch http://identifiers.org/snomedct/46041001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024454 property_value: exactMatch https://omim.org/entry/614569 property_value: exactMatch NCIT:C3213 property_value: exactMatch Orphanet:163634 property_value: excluded_subClassOf MONDO:0019708 {source="Orphanet:163634"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6958/maffucci-syndrome xsd:anyURI {source="GARD:0006958"} [Term] id: MONDO:0013809 name: obsolete cerebellar ataxia, neuropathy, and vestibular areflexia syndrome property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4894 xsd:anyURI is_obsolete: true replaced_by: MONDO:0044720 [Term] id: MONDO:0013810 name: COG6-ongenital disorder of glycosylation subset: ordo_disease {source="Orphanet:464443"} synonym: "CDG IIL" RELATED [OMIM:614576] synonym: "CDG syndrome type IIL" EXACT [Orphanet:464443] synonym: "CDG-IIL" EXACT [Orphanet:464443] synonym: "CDG2L" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614576, Orphanet:464443] synonym: "CDGIIl" RELATED [GARD:0010944] synonym: "COG6-CDG" EXACT ABBREVIATION [Orphanet:464443] synonym: "COG6-CDG (CDG-IIL)" RELATED [GARD:0010944] synonym: "COG6-congenital disorder of glycosylation" EXACT [] synonym: "congenital disorder of glycosylation type 2l" EXACT [Orphanet:464443] synonym: "congenital disorder of glycosylation type IIL" EXACT [Orphanet:464443] synonym: "congenital disorder of glycosylation, type IIL" RELATED [MONDO:Lexical, OMIM:614576] xref: DOID:0070264 {source="MONDO:equivalentTo"} xref: OMIM:614576 {source="Orphanet:464443", source="MONDO:equivalentTo", source="Orphanet:464443/e"} xref: Orphanet:464443 {source="MONDO:equivalentTo"} xref: UMLS:C3553230 {source="OMIM:614576", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0005546 {source="DC-OMIM:614576", source="OMIM:614576"} ! congenital disorder of glycosylation type II is_a: MONDO:0017750 {source="Orphanet:464443"} ! defect in conserved oligomeric Golgi complex property_value: exactMatch DOID:0070264 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553230 property_value: exactMatch https://omim.org/entry/614576 property_value: exactMatch Orphanet:464443 [Term] id: MONDO:0013811 name: combined oxidative phosphorylation defect type 9 def: "Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V." [Orphanet:319509] subset: ordo_disease {source="Orphanet:319509"} synonym: "combined oxidative phosphorylation deficiency 9" RELATED [MONDO:Lexical, OMIM:614582] synonym: "combined oxidative phosphorylation deficiency caused by mutation in MRPL3" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 9" EXACT [MONDORULE:1, OMIM:614582] synonym: "COXPD9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614582, Orphanet:319509] synonym: "MRPL3 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111472 {source="MONDO:equivalentTo"} xref: OMIM:614582 {source="Orphanet:319509", source="MONDO:equivalentTo", source="Orphanet:319509/e"} xref: Orphanet:319509 {source="MONDO:equivalentTo", source="OMIM:614582"} xref: SCTID:763209008 {source="MONDO:equivalentTo"} xref: UMLS:C3281234 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614582"} is_a: MONDO:0000732 {source="DC-OMIM:614582", source="MONDO:Redundant", source="OMIM:614582"} ! combined oxidative phosphorylation deficiency property_value: exactMatch DOID:0111472 property_value: exactMatch http://identifiers.org/snomedct/763209008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281234 property_value: exactMatch https://omim.org/entry/614582 property_value: exactMatch Orphanet:319509 [Term] id: MONDO:0013813 name: dystonia 21 def: "Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia." [Orphanet:306734] subset: ordo_disease {source="Orphanet:306734"} synonym: "dystonia 21" EXACT [MONDO:Lexical, OMIM:614588] synonym: "dystonia type 21" EXACT [DOID:0090046, MONDORULE:2] synonym: "DYT21" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614588, Orphanet:306734] synonym: "primary dystonia, DYT21 type" RELATED [Orphanet:306734] xref: DOID:0090046 {source="MONDO:equivalentTo"} xref: OMIM:614588 {source="Orphanet:306734", source="MONDO:equivalentTo", source="Orphanet:306734/e", source="DOID:0090046"} xref: Orphanet:306734 {source="OMIM:614588", source="MONDO:equivalentTo", source="DOID:0090046"} xref: UMLS:C3281236 {source="OMIM:614588", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000476 {source="Orphanet:306734"} ! generalized dystonia property_value: exactMatch DOID:0090046 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281236 property_value: exactMatch https://omim.org/entry/614588 property_value: exactMatch Orphanet:306734 [Term] id: MONDO:0013815 name: bent bone dysplasia syndrome 1 subset: ordo_disease {source="Orphanet:313855"} synonym: "BBDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614592] synonym: "bent bone dysplasia (BBD)-FGFR2 type" RELATED [GARD:0010965] synonym: "bent bone dysplasia syndrome" RELATED [MONDO:Lexical, OMIM:614592] synonym: "FGFR2-related bent bone dysplasia" EXACT [PMID:31633310] synonym: "perinatal lethal bent bone dysplasia" EXACT [Orphanet:313855] xref: OMIM:614592 {source="Orphanet:313855", source="MONDO:equivalentTo", source="Orphanet:313855/e"} xref: Orphanet:313855 {source="MONDO:equivalentTo", source="OMIM:614592"} xref: UMLS:C3281247 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614592"} is_a: MONDO:0031615 {source="OMIM:614592", source="PMID:31633310"} ! familial bent bone dysplasia syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281247 property_value: exactMatch https://omim.org/entry/614592 property_value: exactMatch Orphanet:313855 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0013824 name: Joubert syndrome 17 def: "Any Joubert syndrome in which the cause of the disease is a mutation in the CPLANE1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "CPLANE1 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "JBTS17" EXACT ABBREVIATION [DOID:0110986, MONDO:Lexical, OMIM:614615] synonym: "Joubert syndrome 17" EXACT [MONDO:Lexical, OMIM:614615] synonym: "Joubert syndrome caused by mutation in CPLANE1" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 17" EXACT [DOID:0110986, MONDORULE:2, OMIM:614615] xref: DOID:0110986 {source="MONDO:equivalentTo"} xref: NCIT:C175702 {source="MONDO:equivalentTo"} xref: OMIM:614615 {source="DOID:0110986", source="MONDO:equivalentTo"} xref: UMLS:C3553264 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614615"} is_a: MONDO:0018772 {source="DC-OMIM:614615", source="DOID:0110986", source="MONDO:Redundant", source="OMIM:614615"} ! Joubert syndrome property_value: exactMatch DOID:0110986 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553264 property_value: exactMatch https://omim.org/entry/614615 property_value: exactMatch NCIT:C175702 [Term] id: MONDO:0013825 name: congenital diarrhea 6 def: "Any congenital diarrhea in which the cause of the disease is a mutation in the GUCY2C gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:314373"} synonym: "chronic diarrhea due to guanylate cyclase 2C overactivity" EXACT [DOID:0060780] synonym: "chronic diarrhoea due to guanylate cyclase 2C overactivity" EXACT OMO:0003005 [] synonym: "congenital diarrhea caused by mutation in GUCY2C" EXACT [MONDO:design_pattern] synonym: "congenital diarrhea type 6" EXACT [DOID:0060780, MONDORULE:1] synonym: "congenital diarrhoea caused by mutation in GUCY2C" EXACT OMO:0003005 [] synonym: "congenital diarrhoea type 6" EXACT OMO:0003005 [] synonym: "DIAR6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614616] synonym: "diarrhea 6" RELATED [MONDO:Lexical, OMIM:614616] synonym: "diarrhea type 6" EXACT [MONDORULE:1, OMIM:614616] synonym: "diarrhoea 6" RELATED OMO:0003005 [] synonym: "diarrhoea type 6" EXACT OMO:0003005 [] synonym: "GUCY2C congenital diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "GUCY2C congenital diarrhoea" EXACT OMO:0003005 [] xref: DOID:0060780 {source="MONDO:equivalentTo"} xref: OMIM:614616 {source="Orphanet:314373/e", source="DOID:0060780", source="MONDO:equivalentTo", source="Orphanet:314373"} xref: Orphanet:314373 {source="DOID:0060780", source="MONDO:equivalentTo", source="OMIM:614616"} xref: UMLS:C3553270 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614616"} is_a: MONDO:0000824 {source="DC-OMIM:614616", source="DOID:0060780", source="MONDO:Redundant", source="OMIM:614616"} ! congenital diarrhea is_a: MONDO:0021189 {source="Orphanet:314373"} ! intestinal motility disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015184"} ! rare property_value: exactMatch DOID:0060780 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553270 property_value: exactMatch https://omim.org/entry/614616 property_value: exactMatch Orphanet:314373 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0013835 name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 def: "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the ISPD gene." [MONDO:patterns/disease_series_by_gene] synonym: "ISPD muscular dystrophy-dystroglycanopathy, type A" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "MDDGA7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614643] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7" RELATED [OMIM:614643] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7" EXACT [MONDO:Lexical, OMIM:614643] synonym: "muscular dystrophy-dystroglycanopathy, type A caused by mutation in ISPD" EXACT [MONDO:design_pattern] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, ISPD-related" RELATED [OMIM:614643] xref: DOID:0111234 {source="MONDO:equivalentTo"} xref: OMIM:614643 {source="MONDO:equivalentTo"} xref: Orphanet:899 {source="OMIM:614643", source="MONDO:relatedTo"} xref: UMLS:C3553330 {source="OMIM:614643", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000171 {source="MONDO:Redundant", source="OMIM:614643", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A property_value: exactMatch DOID:0111234 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553330 property_value: exactMatch https://omim.org/entry/614643 [Term] id: MONDO:0013836 name: familial steroid-resistant nephrotic syndrome with sensorineural deafness subset: ordo_disease {source="Orphanet:280406"} synonym: "coenzyme Q10 deficiency, primary, 6" RELATED [MONDO:Lexical, OMIM:614650] synonym: "coenzyme Q10 deficiency, primary, type 6" EXACT [MONDORULE:1, OMIM:614650] synonym: "COQ10D6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614650] xref: DOID:0070243 {source="MONDO:equivalentTo"} xref: OMIM:614650 {source="Orphanet:280406", source="MONDO:equivalentTo", source="Orphanet:280406/e"} xref: Orphanet:280406 {source="MONDO:equivalentTo", source="OMIM:614650"} xref: UMLS:C3553349 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614650"} is_a: MONDO:0018151 {source="DC-OMIM:614650", source="OMIM:614650", source="Orphanet:280406"} ! coenzyme Q10 deficiency is_a: MONDO:0019006 ! familial idiopathic steroid-resistant nephrotic syndrome property_value: exactMatch DOID:0070243 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553349 property_value: exactMatch https://omim.org/entry/614650 property_value: exactMatch Orphanet:280406 [Term] id: MONDO:0013837 name: deafness-encephaloneuropathy-obesity-valvulopathy syndrome def: "Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated." [Orphanet:254898] subset: ordo_disease {source="Orphanet:254898"} synonym: "coenzyme Q10 deficiency, primary, 2" RELATED [MONDO:Lexical, OMIM:614651] synonym: "coenzyme Q10 deficiency, primary, type 2" EXACT [MONDORULE:1, OMIM:614651] synonym: "COQ10D2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614651] synonym: "hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome" EXACT [Orphanet:254898] xref: DOID:0070239 {source="MONDO:equivalentTo"} xref: OMIM:614651 {source="MONDO:equivalentTo", source="Orphanet:254898", source="Orphanet:254898/e"} xref: Orphanet:254898 {source="OMIM:614651", source="MONDO:equivalentTo"} xref: UMLS:C3553354 {source="OMIM:614651", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018151 {source="DC-OMIM:614651", source="OMIM:614651", source="Orphanet:254898"} ! coenzyme Q10 deficiency property_value: exactMatch DOID:0070239 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553354 property_value: exactMatch https://omim.org/entry/614651 property_value: exactMatch Orphanet:254898 [Term] id: MONDO:0013839 name: hereditary sensory and autonomic neuropathy type 6 def: "Any hereditary sensory and autonomic neuropathy in which the cause of the disease is a mutation in the DST gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:314381"} synonym: "DST hereditary sensory and autonomic neuropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial dysautonomia with contractures" EXACT [Orphanet:314381] synonym: "hereditary sensory and autonomic neuropathy caused by mutation in DST" EXACT [MONDO:design_pattern] synonym: "hereditary sensory and autonomic neuropathy type VI" EXACT [DOID:0070151, Orphanet:314381] synonym: "HSAN 6" RELATED [OMIM:614653] synonym: "HSAN6" EXACT ABBREVIATION [DOID:0070151, MONDO:Lexical, OMIM:614653, Orphanet:314381] synonym: "neuropathy, hereditary sensory and autonomic, type 6" RELATED [OMIM:614653] synonym: "neuropathy, hereditary sensory and autonomic, type VI" RELATED [MONDO:Lexical, OMIM:614653] xref: DOID:0070151 {source="MONDO:equivalentTo"} xref: OMIM:614653 {source="MONDO:equivalentTo", source="Orphanet:314381", source="DOID:0070151", source="Orphanet:314381/e"} xref: Orphanet:314381 {source="OMIM:614653", source="MONDO:equivalentTo", source="DOID:0070151"} xref: UMLS:C3539003 {source="OMIM:614653", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015366 {source="Orphanet:314381"} ! autosomal recessive hereditary sensory and autonomic neuropathy property_value: exactMatch DOID:0070151 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3539003 property_value: exactMatch https://omim.org/entry/614653 property_value: exactMatch Orphanet:314381 [Term] id: MONDO:0013840 name: encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome def: "Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound." [Orphanet:319678] subset: ordo_disease {source="Orphanet:319678"} synonym: "coenzyme Q10 deficiency, primary, 5" RELATED [MONDO:Lexical, OMIM:614654] synonym: "coenzyme Q10 deficiency, primary, type 5" EXACT [MONDORULE:1, OMIM:614654] synonym: "COQ10D5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614654] xref: DOID:0070242 {source="MONDO:equivalentTo"} xref: OMIM:614654 {source="Orphanet:319678/e", source="MONDO:equivalentTo", source="Orphanet:319678"} xref: Orphanet:319678 {source="OMIM:614654", source="MONDO:equivalentTo"} xref: UMLS:C3553374 {source="OMIM:614654", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018151 {source="DC-OMIM:614654", source="OMIM:614654", source="Orphanet:319678"} ! coenzyme Q10 deficiency property_value: exactMatch DOID:0070242 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553374 property_value: exactMatch https://omim.org/entry/614654 property_value: exactMatch Orphanet:319678 [Term] id: MONDO:0013843 name: intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency def: "Any meconium ileus in which the cause of the disease is a mutation in the GUCY2C gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:314376"} synonym: "GUCY2C meconium ileus" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "meconium ileus" BROAD [OMIM:614665, OMIM:genemap2] synonym: "meconium ileus caused by mutation in GUCY2C" EXACT [] synonym: "meconium ileus due to guanylate cyclase 2C deficiency" EXACT [Orphanet:314376] xref: ICD9:777.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: OMIM:614665 {source="Orphanet:314376/e", source="MONDO:equivalentTo", source="Orphanet:314376"} xref: Orphanet:314376 {source="OMIM:614665", source="MONDO:equivalentTo"} xref: SCTID:733447005 {source="MONDO:equivalentTo"} is_a: MONDO:0004567 ! ileus is_a: MONDO:0021189 {source="Orphanet:314376"} ! intestinal motility disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015184"} ! rare property_value: exactMatch http://identifiers.org/snomedct/733447005 property_value: exactMatch https://omim.org/entry/614665 property_value: exactMatch Orphanet:314376 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013847 name: chromosome 16p11.2 duplication syndrome def: "Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life." [Orphanet:370079] subset: ordo_malformation_syndrome {source="Orphanet:370079"} subset: predisposition synonym: "16p11.2 duplication" RELATED [GARD:0012388] synonym: "16p11.2 duplication syndrome" RELATED [GARD:0012388] synonym: "16p11.2 microduplication" RELATED [GARD:0012388] synonym: "autism, susceptibility to, 14B" RELATED [OMIM:614671] synonym: "AUTS14B" RELATED ABBREVIATION [GARD:0012388] synonym: "chromosome 16p11.2 duplication syndrome" EXACT [OMIM:614671] synonym: "proximal 16p11.2 microduplication syndrome" EXACT [DOID:0060430] synonym: "proximal dup(16)(p11.2)" EXACT [DOID:0060430, Orphanet:370079] synonym: "proximal trisomy 16p11.2" EXACT [DOID:0060430, Orphanet:370079] synonym: "susceptibility to autism, 14B" RELATED [GARD:0012388] xref: DOID:0060430 {source="MONDO:equivalentTo"} xref: OMIM:614671 {source="DOID:0060430", source="MONDO:equivalentTo", source="Orphanet:370079", source="Orphanet:370079/e"} xref: Orphanet:370079 {source="DOID:0060430", source="MONDO:equivalentTo", source="OMIM:614671"} xref: SCTID:765142003 {source="MONDO:equivalentTo"} xref: UMLS:C3553407 {source="MONDO:equivalentTo", source="OMIM:614671"} is_a: MONDO:0016949 {source="Orphanet:370079"} ! partial duplication of the short arm of chromosome 16 property_value: exactMatch DOID:0060430 property_value: exactMatch http://identifiers.org/snomedct/765142003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553407 property_value: exactMatch https://omim.org/entry/614671 property_value: exactMatch Orphanet:370079 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:370079"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0013850 name: obsolete periodic fever, menstrual cycle-dependent comment: This term was a duplicate. property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1764 xsd:anyURI is_obsolete: true replaced_by: MONDO:0044660 [Term] id: MONDO:0013851 name: autosomal dominant aplasia and myelodysplasia subset: ordo_disease {source="Orphanet:314399"} synonym: "autosomal dominant aplastic anaemia and myelodysplasia" EXACT OMO:0003005 [] synonym: "autosomal dominant aplastic anemia and myelodysplasia" EXACT [Orphanet:314399] synonym: "BMFS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614675] synonym: "bone marrow failure syndrome 1" RELATED [MONDO:Lexical, OMIM:614675] synonym: "bone marrow failure syndrome type 1" EXACT [MONDORULE:1, OMIM:614675] xref: OMIM:614675 {source="Orphanet:314399/e", source="MONDO:equivalentTo", source="Orphanet:314399"} xref: Orphanet:314399 {source="OMIM:614675", source="MONDO:equivalentTo"} xref: UMLS:C3808553 {source="OMIM:614675", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:CN203751 {source="MONDO:equivalentTo"} is_a: MONDO:0000159 {source="DC-OMIM:614675", source="OMIM:614675"} ! bone marrow failure syndrome is_a: MONDO:0001713 {source="Orphanet:314399"} ! inherited aplastic anemia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808553 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203751 property_value: exactMatch https://omim.org/entry/614675 property_value: exactMatch Orphanet:314399 [Term] id: MONDO:0013860 name: idiopathic membranous glomerulonephritis def: "Idiopathic membranous glomerulonephritis (IMG) is a primary glomerular disease characterized by proteinuria, usually in the nephrotic range, with preserved renal function." [Orphanet:97560] subset: ordo_disease {source="Orphanet:97560"} synonym: "Extramembranous glomerulonephritis" RELATED [GARD:0009180] synonym: "glomerulonephritis, membranous" RELATED [GARD:0009180] synonym: "Idiopathic membranous glomerulopathy" RELATED [NCIT:C123060] synonym: "idiopathic membranous nephropathy" RELATED [GARD:0009180] synonym: "MBNP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614692] synonym: "membranous GN" RELATED [GARD:0009180] synonym: "membranous nephropathy - Idiopathic" EXACT [NCIT:C123060] synonym: "membranous nephropathy, susceptibility to" RELATED [MONDO:Lexical, OMIM:614692] synonym: "MGN" RELATED ABBREVIATION [GARD:0009180] xref: NCIT:C123060 {source="MONDO:equivalentTo"} xref: OMIM:614692 {source="Orphanet:97560/e", source="MONDO:equivalentTo", source="Orphanet:97560"} xref: Orphanet:97560 {source="MONDO:equivalentTo", source="OMIM:614692"} xref: SCTID:722119002 {source="MONDO:equivalentTo"} xref: UMLS:C0086445 {source="MONDO:equivalentTo", source="Orphanet:97560"} is_a: EFO:0004254 {source="NCIT:C123060"} ! membranous glomerulonephritis is_a: MONDO:0700007 ! idiopathic disease property_value: exactMatch http://identifiers.org/snomedct/722119002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0086445 property_value: exactMatch https://omim.org/entry/614692 property_value: exactMatch NCIT:C123060 property_value: exactMatch Orphanet:97560 [Term] id: MONDO:0013862 name: immunodeficiency, common variable, 7 synonym: "CVID7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614699] synonym: "immunodeficiency, common variable, 7" EXACT [MONDO:Lexical, OMIM:614699] synonym: "immunodeficiency, common variable, type 7" EXACT [MONDORULE:1, OMIM:614699] xref: DOID:0081150 {source="MONDO:equivalentTo"} xref: OMIM:614699 {source="MONDO:equivalentTo"} xref: UMLS:C3542922 {source="OMIM:614699", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015517 {source="DC-OMIM:614699", source="OMIM:614699"} ! common variable immunodeficiency property_value: exactMatch DOID:0081150 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3542922 property_value: exactMatch https://omim.org/entry/614699 [Term] id: MONDO:0013863 name: combined immunodeficiency due to LRBA deficiency subset: ordo_disease {source="Orphanet:445018"} synonym: "CID due to LRBA deficiency" EXACT [Orphanet:445018] synonym: "combined immunodeficiency due to LRBA deficiency" EXACT [] synonym: "CVID8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614700] synonym: "immunodeficiency, common variable, 8, with autoimmunity" RELATED [MONDO:Lexical, OMIM:614700] xref: DOID:0081151 {source="MONDO:equivalentTo"} xref: OMIM:614700 {source="Orphanet:445018", source="MONDO:equivalentTo", source="Orphanet:445018/e"} xref: Orphanet:445018 {source="MONDO:equivalentTo"} xref: UMLS:C3553512 {source="OMIM:614700", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015517 {source="DC-OMIM:614700", source="OMIM:614700"} ! common variable immunodeficiency property_value: exactMatch DOID:0081151 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553512 property_value: exactMatch https://omim.org/entry/614700 property_value: exactMatch Orphanet:445018 property_value: excluded_subClassOf MONDO:0005020 {source="MONDO:Redundant", source="Orphanet:445018", source="Orphanet:445018/inferred"} property_value: excluded_subClassOf MONDO:0005151 {source="MONDO:Redundant", source="Orphanet:445018", source="Orphanet:445018/inferred"} property_value: excluded_subClassOf MONDO:0015126 {source="Orphanet:445018"} property_value: excluded_subClassOf MONDO:0018814 {source="Orphanet:445018"} property_value: excluded_subClassOf MONDO:0019126 {source="Orphanet:445018"} property_value: excluded_subClassOf MONDO:0019787 {source="Orphanet:445018"} [Term] id: MONDO:0013865 name: mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency def: "A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia." [Orphanet:314637] subset: ordo_disease {source="Orphanet:314637"} synonym: "cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis" RELATED [OMIM:614702] synonym: "combined oxidative phosphorylation defect type 10" EXACT [Orphanet:314637] synonym: "combined oxidative phosphorylation deficiency 10" RELATED [MONDO:Lexical, OMIM:614702] synonym: "combined oxidative phosphorylation deficiency caused by mutation in MTO1" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 10" EXACT [MONDORULE:2, OMIM:614702] synonym: "COXPD10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614702, Orphanet:314637] synonym: "mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency" EXACT [] synonym: "MTO1 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111480 {source="MONDO:equivalentTo"} xref: OMIM:614702 {source="MONDO:equivalentTo", source="Orphanet:314637", source="Orphanet:314637/e"} xref: Orphanet:314637 {source="MONDO:equivalentTo", source="OMIM:614702"} xref: UMLS:C3553529 {source="MONDO:equivalentTo", source="OMIM:614702", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000732 {source="DC-OMIM:614702", source="MONDO:Redundant", source="OMIM:614702"} ! combined oxidative phosphorylation deficiency property_value: exactMatch DOID:0111480 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553529 property_value: exactMatch https://omim.org/entry/614702 property_value: exactMatch Orphanet:314637 [Term] id: MONDO:0013866 name: neuronal ceroid lipofuscinosis 11 def: "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the GRN gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_etiological_subtype {source="Orphanet:314629"} synonym: "ceroid lipofuscinosis, neuronal, 11" RELATED [MONDO:Lexical, OMIM:614706] synonym: "ceroid lipofuscinosis, neuronal, type 11" EXACT [MONDORULE:2, OMIM:614706] synonym: "CLN11" EXACT ABBREVIATION [DOID:0110732, MONDO:Lexical, OMIM:614706] synonym: "CLN11 disease" RELATED [Orphanet:314629] synonym: "GRN neuronal ceroid lipofuscinosis" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Grn neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern] synonym: "neuronal ceroid lipofuscinosis caused by mutation in GRN" EXACT [] synonym: "neuronal ceroid lipofuscinosis caused by mutation in Grn" EXACT [MONDO:design_pattern] synonym: "neuronal ceroid lipofuscinosis type 11" EXACT [DOID:0110732, MONDORULE:2] xref: DOID:0110732 {source="MONDO:equivalentTo"} xref: OMIM:614706 {source="DOID:0110732", source="MONDO:equivalentTo", source="Orphanet:314629", source="Orphanet:314629/e"} xref: Orphanet:314629 {source="DOID:0110732", source="MONDO:equivalentTo", source="OMIM:614706"} xref: UMLS:C3539123 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614706"} is_a: MONDO:0019260 {source="Orphanet:314629"} ! adult neuronal ceroid lipofuscinosis property_value: exactMatch DOID:0110732 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3539123 property_value: exactMatch https://omim.org/entry/614706 property_value: exactMatch Orphanet:314629 [Term] id: MONDO:0013869 name: adenine phosphoribosyltransferase deficiency def: "Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy." [Orphanet:976] subset: gard_rare subset: ordo_disease {source="Orphanet:976"} synonym: "2,8-dihydroxyadenine urolithiasis" EXACT [DOID:0060350, Orphanet:976] synonym: "2,8-dihydroxyadeninuria disease" EXACT [MONDO:cjm, PMID:23064195] synonym: "adenine phosphoribosyltransferase deficiency" EXACT [MONDO:Lexical, OMIM:614723] synonym: "APRT deficiency" EXACT [DOID:0060350, GARD:0010666, OMIM:614723, Orphanet:976] synonym: "APRTD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614723] synonym: "Dihydroxyadeninuria" RELATED [GARD:0010666] synonym: "nephrolithiasis, Dha" RELATED [OMIM:614723] synonym: "urolithiasis, 2,8-dihydroxyadenine" RELATED [OMIM:614723] synonym: "urolithiasis, Dha" RELATED [OMIM:614723] xref: DOID:0060350 {source="MONDO:equivalentTo"} xref: MESH:C538228 {source="MONDO:equivalentTo", source="DOID:0060350"} xref: NCIT:C121564 {source="MONDO:equivalentTo", source="DOID:0060350"} xref: OMIM:614723 {source="Orphanet:976", source="MONDO:equivalentTo", source="Orphanet:976/e", source="DOID:0060350"} xref: Orphanet:976 {source="MONDO:equivalentTo", source="OMIM:614723"} xref: SCTID:124274002 {source="MONDO:equivalentTo", source="DOID:0060350"} xref: UMLS:C0268120 {source="Orphanet:976", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="GARD:0010666", source="NCIT:C121564", source="DOID:0060350"} is_a: MONDO:0004736 {source="DOID:0060350"} ! inborn disorder of amino acid metabolism is_a: MONDO:0019236 {source="Orphanet:976"} ! inborn disorder of purine metabolism property_value: exactMatch DOID:0060350 property_value: exactMatch http://identifiers.org/mesh/C538228 property_value: exactMatch http://identifiers.org/snomedct/124274002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268120 property_value: exactMatch https://omim.org/entry/614723 property_value: exactMatch NCIT:C121564 property_value: exactMatch Orphanet:976 property_value: excluded_subClassOf MONDO:0019743 {source="Orphanet:976"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10666/dihydroxyadeninuria xsd:anyURI {source="GARD:0010666"} [Term] id: MONDO:0013870 name: TMEM165-congenital disorder of glycosylation def: "TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12)." [Orphanet:314667] subset: ordo_disease {source="Orphanet:314667"} synonym: "carbohydrate deficient glycoprotein syndrome type IIk" EXACT [Orphanet:314667] synonym: "CDG IIk" RELATED [OMIM:614727] synonym: "CDG syndrome type IIk" EXACT [Orphanet:314667] synonym: "CDG-IIk" EXACT [Orphanet:314667] synonym: "CDG2K" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614727, Orphanet:314667] synonym: "congenital disorder of glycosylation type 2k" EXACT [Orphanet:314667] synonym: "congenital disorder of glycosylation type IIk" EXACT [Orphanet:314667] synonym: "congenital disorder of glycosylation, type IIk" RELATED [MONDO:Lexical, OMIM:614727] synonym: "TMEM165-CDG" EXACT ABBREVIATION [Orphanet:314667] synonym: "TMEM165-CDG (CDG-IIk)" RELATED [GARD:0012413] synonym: "TMEM165-congenital disorder of glycosylation" EXACT [] xref: DOID:0070263 {source="MONDO:equivalentTo"} xref: OMIM:614727 {source="Orphanet:314667", source="MONDO:equivalentTo", source="Orphanet:314667/e"} xref: Orphanet:314667 {source="MONDO:equivalentTo", source="OMIM:614727"} xref: SCTID:732252005 {source="MONDO:equivalentTo"} xref: UMLS:C3553571 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614727"} is_a: EFO:0005546 {source="DC-OMIM:614727", source="OMIM:614727"} ! congenital disorder of glycosylation type II is_a: MONDO:0016761 {source="PMID:31633310"} ! spondyloepiphyseal dysplasia is_a: MONDO:0017740 {source="Orphanet:314667"} ! disorder of protein N-glycosylation is_a: MONDO:0018292 {source="Orphanet:314667"} ! congenital disorder of glycosylation-related bone disorder property_value: exactMatch DOID:0070263 property_value: exactMatch http://identifiers.org/snomedct/732252005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553571 property_value: exactMatch https://omim.org/entry/614727 property_value: exactMatch Orphanet:314667 property_value: excluded_subClassOf MONDO:0019704 {source="Orphanet:314667"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0013873 name: IMAGe syndrome def: "IMAGe syndrome is characterized by the association of intrauterine growth retardation, metaphyseal dysplasia (and short limbs), adrenal hypoplasia congenita, and genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait." [Orphanet:85173] subset: gard_rare {source="GARD:0012312"} subset: ordo_malformation_syndrome {source="Orphanet:85173"} synonym: "IMAGe syndrome" EXACT [OMIM:614732] synonym: "intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities" EXACT [DOID:0050885] synonym: "intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies" RELATED [GARD:0012312] synonym: "intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies" RELATED [OMIM:614732] synonym: "intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome" EXACT [Orphanet:85173] xref: DOID:0050885 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C130988 {source="MONDO:equivalentTo"} xref: OMIM:614732 {source="Orphanet:85173/e", source="DOID:0050885", source="MONDO:equivalentTo", source="Orphanet:85173"} xref: Orphanet:85173 {source="OMIM:614732", source="MONDO:equivalentTo"} xref: SCTID:702384004 {source="MONDO:equivalentTo"} xref: UMLS:C1846009 {source="NCIT:C130988", source="OMIM:614732", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:85173"} is_a: MONDO:0002254 {source="DOID:0050885", source="MONDO:Redundant", source="NCIT:C130988"} ! syndromic disease is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder property_value: exactMatch DOID:0050885 property_value: exactMatch http://identifiers.org/snomedct/702384004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846009 property_value: exactMatch https://omim.org/entry/614732 property_value: exactMatch NCIT:C130988 property_value: exactMatch Orphanet:85173 property_value: excluded_subClassOf MONDO:0005495 {source="Orphanet:85173"} property_value: excluded_subClassOf MONDO:0015129 {source="Orphanet:85173"} property_value: excluded_subClassOf MONDO:0015620 {source="Orphanet:85173"} property_value: excluded_subClassOf MONDO:0019699 {source="Orphanet:85173"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12312/image-syndrome xsd:anyURI {source="GARD:0012312"} [Term] id: MONDO:0013875 name: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome def: "Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene." [MONDO:patterns/disease_series_by_gene] comment: Present because it is in the OMIM series. {source="OMIM:614739"} subset: gard_rare subset: ordo_disease {source="Orphanet:352328"} synonym: "3-methylglutaconic aciduria caused by mutation in SERAC1" EXACT [MONDO:design_pattern] synonym: "3-methylglutaconic aciduria type 6" EXACT [DOID:0110001] synonym: "3-methylglutaconic aciduria type VI" RELATED [GARD:0012963] synonym: "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome" EXACT [MONDO:Lexical, OMIM:614739] synonym: "3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome" EXACT [Orphanet:352328] synonym: "3-Methylglutaconic aciduria with dystonia-deafness, hepatopathy, encephalopathy, and Leigh-like syndrome" RELATED [OMIM:614739] synonym: "3-Methylglutaconic aciduria, type 6" RELATED [OMIM:614739] synonym: "3-MGCA type IV (formerly)" RELATED [GARD:0012963] synonym: "3-MGCA-4 (formerly)" RELATED [GARD:0012963] synonym: "MEGDEL" EXACT ABBREVIATION [DOID:0110001, MONDO:Lexical, OMIM:614739] synonym: "MEGDEL syndrome" EXACT [DOID:0110001] synonym: "MGCA6" EXACT ABBREVIATION [DOID:0110001] synonym: "SERAC1 3-methylglutaconic aciduria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SERAC1 defect" RELATED [GARD:0012963] xref: DOID:0110001 {source="MONDO:equivalentTo"} xref: OMIM:614739 {source="Orphanet:352328/e", source="MONDO:equivalentTo", source="Orphanet:352328", source="DOID:0110001"} xref: Orphanet:352328 {source="MONDO:equivalentTo", source="OMIM:614739", source="DOID:0110001"} xref: SCTID:711409002 {source="MONDO:equivalentTo"} xref: UMLS:C3553597 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614739"} is_a: MONDO:0004069 ! inborn mitochondrial metabolism disorder is_a: MONDO:0017359 {source="DC-OMIM:614739", source="DOID:0110001", source="MONDO:Redundant", source="OMIM:614739", source="Orphanet:352328"} ! 3-methylglutaconic aciduria is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis property_value: exactMatch DOID:0110001 property_value: exactMatch http://identifiers.org/snomedct/711409002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553597 property_value: exactMatch https://omim.org/entry/614739 property_value: exactMatch Orphanet:352328 [Term] id: MONDO:0013877 name: mitochondrial pyruvate carrier deficiency def: "An autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation." [PMID:22628558] subset: ordo_disease {source="Orphanet:447784"} synonym: "mitochondrial pyruvate carrier deficiency" EXACT [MONDO:Lexical, OMIM:614741] synonym: "MPYCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614741] xref: DOID:0080363 {source="MONDO:equivalentTo"} xref: OMIM:614741 {source="Orphanet:447784/e", source="MONDO:equivalentTo", source="Orphanet:447784"} xref: Orphanet:447784 {source="MONDO:equivalentTo"} xref: UMLS:C3553607 {source="OMIM:614741", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0004069 {source="https://github.com/monarch-initiative/mondo/issues/1573"} ! inborn mitochondrial metabolism disorder is_a: MONDO:0016789 {source="Orphanet:447784"} ! pyruvate metabolism disorder property_value: exactMatch DOID:0080363 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553607 property_value: exactMatch https://omim.org/entry/614741 property_value: exactMatch Orphanet:447784 [Term] id: MONDO:0013881 name: pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome def: "A life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair." [https://orcid.org/0000-0001-5208-3432, Orphanet:306504] subset: ordo_disease {source="Orphanet:306504"} synonym: "congenital ILNEB syndrome" EXACT [Orphanet:306504] synonym: "congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome" EXACT [Orphanet:306504] synonym: "congenital NEP syndrome" EXACT [Orphanet:306504] synonym: "congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome" EXACT [Orphanet:306504] synonym: "congenital nephrotic syndrome-epidermolysis bullosa-pulmonary disease syndrome" EXACT [Orphanet:306504] synonym: "ILNEB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614748] synonym: "interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital" RELATED [MONDO:Lexical, OMIM:614748] synonym: "JEB with respiratory and renal involvement" EXACT [Orphanet:306504] synonym: "JEB-RR" EXACT [Orphanet:306504] synonym: "junctional epidermolysis bullosa with respiratory and renal involvement" RELATED [Orphanet:306504] xref: OMIM:614748 {source="Orphanet:306504", source="MONDO:equivalentTo", source="Orphanet:306504/e"} xref: Orphanet:306504 {source="MONDO:equivalentTo", source="OMIM:614748"} xref: UMLS:C3553636 {source="MONDO:equivalentObsolete", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614748"} is_a: MONDO:0017612 {source="OMIM:614748", source="Orphanet:306504"} ! junctional epidermolysis bullosa relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch https://omim.org/entry/614748 property_value: exactMatch Orphanet:306504 property_value: excluded_subClassOf MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:306504", source="Orphanet:306504/inferred"} property_value: excluded_subClassOf MONDO:0017015 {source="Orphanet:306504"} property_value: excluded_subClassOf MONDO:0019723 {source="Orphanet:306504"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0013885 name: Malan overgrowth syndrome def: "A rare multisystemic genetic disorder characterized by a characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness." [Orphanet:420179] subset: ordo_malformation_syndrome {source="Orphanet:420179"} synonym: "Malan syndrome" RELATED [OMIM:614753] synonym: "Sotos syndrome 2" EXACT DEPRECATED [MONDO:Lexical, OMIM:614753, Orphanet:420179] synonym: "Sotos syndrome type 2" EXACT DEPRECATED [MONDORULE:1, OMIM:614753] synonym: "SOTOS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614753] xref: DOID:0112102 {source="MONDO:equivalentTo"} xref: OMIM:614753 {source="Orphanet:420179", source="MONDO:equivalentTo", source="Orphanet:420179/e"} xref: Orphanet:420179 {source="OMIM:614753", source="MONDO:equivalentTo"} xref: SCTID:763795006 {source="MONDO:equivalentTo"} xref: UMLS:C3553660 {source="OMIM:614753", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015160 {source="Orphanet:420179"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0019716 {source="Orphanet:420179", source="https://orcid.org/0000-0001-5208-3432"} ! overgrowth syndrome is_a: MONDO:0800091 {source="PMID:31633310"} ! overgrowth or tall stature syndrome with skeletal involvement property_value: exactMatch DOID:0112102 property_value: exactMatch http://identifiers.org/snomedct/763795006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553660 property_value: exactMatch https://omim.org/entry/614753 property_value: exactMatch Orphanet:420179 property_value: excluded_subClassOf MONDO:0019349 {source="OMIM:614753"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6321 xsd:anyURI [Term] id: MONDO:0013886 name: cerebellar dysfunction with variable cognitive and behavioral abnormalities def: "Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)." [Orphanet:314647] subset: ordo_disease {source="Orphanet:314647"} synonym: "CANPMR" RELATED DEPRECATED [MONDO:Lexical, OMIM:614756] synonym: "cerebellar ataxia, nonprogressive, with intellectual disability" RELATED [MONDO:Lexical, OMIM:614756] synonym: "cerebellar ataxia, nonprogressive, with mental retardation" RELATED DEPRECATED [MONDO:Lexical, OMIM:614756] synonym: "cerebellar dysfunction with variable cognitive and behavioral abnormalities" EXACT [OMIM:614756, OMIM:genemap2] synonym: "non-progressive cerebellar ataxia with intellectual disability" RELATED [Orphanet:314647] synonym: "nonprogressive cerebellar ataxia with intellectual disability" RELATED [DOID:0050998] synonym: "nonprogressive cerebellar ataxia with mental retardation" RELATED DEPRECATED [DOID:0050998] synonym: "nonprogressive cerebellar atxia with intellectual disability" EXACT [] xref: DOID:0050998 {source="MONDO:equivalentTo"} xref: OMIM:614756 {source="Orphanet:314647", source="MONDO:equivalentTo", source="DOID:0050998", source="Orphanet:314647/e"} xref: Orphanet:314647 {source="MONDO:equivalentTo", source="OMIM:614756"} xref: SCTID:723441001 {source="MONDO:equivalentTo"} xref: UMLS:C3553661 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614756"} is_a: MONDO:0019792 {source="Orphanet:314647"} ! autosomal dominant cerebellar ataxia type I property_value: exactMatch DOID:0050998 property_value: exactMatch http://identifiers.org/snomedct/723441001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553661 property_value: exactMatch https://omim.org/entry/614756 property_value: exactMatch Orphanet:314647 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6163 xsd:anyURI [Term] id: MONDO:0013889 name: short stature-optic atrophy-Pelger-HuC+t anomaly syndrome subset: ordo_malformation_syndrome {source="Orphanet:391677"} synonym: "short stature with optic atrophy and Pelger-Huët anomaly syndrome" RELATED [GARD:0010945] synonym: "short stature, optic nerve atrophy, and Pelger-Huet anomaly" RELATED [MONDO:Lexical, OMIM:614800] synonym: "short stature-optic atrophy-Pelger-HuC+t anomaly syndrome" EXACT [] synonym: "short stature-optic atrophy-Pelger-Huët anomaly syndrome" RELATED [Orphanet:391677] synonym: "soph" RELATED [MONDO:Lexical, OMIM:614800] synonym: "soph syndrome" EXACT [Orphanet:391677] xref: OMIM:614800 {source="Orphanet:391677/e", source="MONDO:equivalentTo", source="Orphanet:391677"} xref: Orphanet:391677 {source="MONDO:equivalentTo", source="OMIM:614800"} xref: UMLS:C3541319 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614800"} is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3541319 property_value: exactMatch https://omim.org/entry/614800 property_value: exactMatch Orphanet:391677 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0013890 name: congenital myopathy with internal nuclei and atypical cores def: "Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients." [Orphanet:319160] subset: ordo_disease {source="Orphanet:319160"} synonym: "centronuclear myopathy 4" EXACT [OMIM:614807, OMIM:genemap2] synonym: "centronuclear myopathy type 4" EXACT [Orphanet:319160] synonym: "CNM4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614807, Orphanet:319160] synonym: "myopathy, centronuclear, 4" RELATED [MONDO:Lexical, OMIM:614807] synonym: "myopathy, centronuclear, type 4" EXACT [MONDORULE:1, OMIM:614807] xref: DOID:0111224 {source="MONDO:equivalentTo"} xref: OMIM:614807 {source="Orphanet:319160", source="MONDO:equivalentTo", source="Orphanet:319160/e"} xref: Orphanet:319160 {source="MONDO:equivalentTo", source="OMIM:614807"} xref: SCTID:764945007 {source="MONDO:equivalentTo"} xref: UMLS:C3553709 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614807"} is_a: MONDO:0015765 {source="Orphanet:319160"} ! congenital myopathy with cores is_a: MONDO:0018947 {source="DC-OMIM:614807", source="OMIM:614807"} ! centronuclear myopathy property_value: exactMatch DOID:0111224 property_value: exactMatch http://identifiers.org/snomedct/764945007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553709 property_value: exactMatch https://omim.org/entry/614807 property_value: exactMatch Orphanet:319160 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013891 name: amyotrophic lateral sclerosis type 18 def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the PFN1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "ALS18" EXACT ABBREVIATION [DOID:0060209, MONDO:Lexical, OMIM:614808] synonym: "amyotrophic lateral sclerosis 18" EXACT [DOID:0060209, MONDO:Lexical, OMIM:614808] synonym: "amyotrophic lateral sclerosis caused by mutation in PFN1" EXACT [MONDO:design_pattern] synonym: "amyotrophic lateral sclerosis type 18" EXACT [MONDORULE:2, OMIM:614808] synonym: "PFN1 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060209 {source="MONDO:equivalentTo"} xref: OMIM:614808 {source="MONDO:equivalentTo", source="DOID:0060209"} xref: UMLS:C3553719 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614808"} is_a: EFO:0001356 {source="DOID:0060209", source="MONDO:Redundant", source="OMIM:614808"} ! familial amyotrophic lateral sclerosis property_value: exactMatch DOID:0060209 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553719 property_value: exactMatch https://omim.org/entry/614808 [Term] id: MONDO:0013892 name: C3 glomerulonephritis def: "Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease." [NCIT:P378] subset: ordo_histopathological_subtype {source="Orphanet:329931"} synonym: "CFHR5 deficiency" RELATED [OMIM:614809] synonym: "complement-mediated membranoproliferative glomerulonephritis" EXACT [NCIT:C123043] synonym: "nephropathy due to CFHR5 deficiency" EXACT [OMIM:614809, OMIM:genemap2] xref: NCIT:C123043 {source="MONDO:equivalentTo"} xref: OMIM:614809 {source="Orphanet:329931/e", source="MONDO:equivalentTo", source="Orphanet:329931"} xref: Orphanet:329931 {source="MONDO:equivalentTo", source="OMIM:614809"} xref: UMLS:C3553720 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614809"} xref: UMLS:C4055342 {source="NCIT:C123043", source="MONDO:equivalentTo"} xref: UMLS:CN187045 {source="MONDO:equivalentTo"} is_a: MONDO:0018013 {source="Orphanet:329931"} ! non-immunoglobulin-mediated membranoproliferative glomerulonephritis property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553720 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4055342 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN187045 property_value: exactMatch https://omim.org/entry/614809 property_value: exactMatch NCIT:C123043 property_value: exactMatch Orphanet:329931 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013894 name: short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome subset: ordo_disease {source="Orphanet:314394"} synonym: "short stature, onychodysplasia, facial dysmorphism, and hypotrichosis" RELATED [MONDO:Lexical, OMIM:614813] synonym: "soft" RELATED [MONDO:Lexical, OMIM:614813] synonym: "soft syndrome" EXACT [OMIM:614813, Orphanet:314394] xref: OMIM:614813 {source="Orphanet:314394/e", source="MONDO:equivalentTo", source="Orphanet:314394"} xref: Orphanet:314394 {source="MONDO:equivalentTo", source="OMIM:614813"} xref: UMLS:C3542022 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614813"} is_a: MONDO:0019699 {source="Orphanet:314394"} ! slender bone dysplasia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3542022 property_value: exactMatch https://omim.org/entry/614813 property_value: exactMatch Orphanet:314394 [Term] id: MONDO:0013898 name: karyomegalic interstitial nephritis def: "Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0011003"} subset: ordo_disease {source="Orphanet:401996"} synonym: "FAN1 interstitial nephritis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "interstitial nephritis caused by mutation in FAN1" EXACT [MONDO:design_pattern] synonym: "interstitial nephritis, karyomegalic" RELATED [MONDO:Lexical, OMIM:614817] synonym: "karyomegalic interstitial nephritis" EXACT [] synonym: "kin" EXACT [DOID:0060911, Orphanet:401996] synonym: "KMIN" EXACT ABBREVIATION [DOID:0060911, MONDO:Lexical, OMIM:614817] synonym: "systemic karyomegaly" EXACT [Orphanet:401996] xref: DOID:0060911 {source="MONDO:equivalentTo"} xref: NCIT:C173626 {source="MONDO:equivalentTo"} xref: OMIM:614817 {source="Orphanet:401996", source="MONDO:equivalentTo", source="Orphanet:401996/e", source="DOID:0060911"} xref: Orphanet:401996 {source="MONDO:equivalentTo", source="DOID:0060911", source="OMIM:614817"} xref: UMLS:C3553774 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614817"} is_a: MONDO:0001085 {source="DOID:0060911", source="MONDO:Redundant"} ! interstitial nephritis property_value: exactMatch DOID:0060911 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553774 property_value: exactMatch https://omim.org/entry/614817 property_value: exactMatch NCIT:C173626 property_value: exactMatch Orphanet:401996 property_value: excluded_subClassOf MONDO:0019741 {source="Orphanet:401996"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11003/karyomegalic-interstitial-nephritis xsd:anyURI {source="GARD:0011003"} [Term] id: MONDO:0013904 name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 def: "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMGNT2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "MDDGA8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614830] synonym: "muscle-eye-brain-POMGNT2 related" EXACT [https://clinicalgenome.org/affiliation/50061/] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8" RELATED [OMIM:614830] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8" EXACT [MONDO:Lexical, OMIM:614830] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8" EXACT [OMIM:614830, OMIM:genemap2] synonym: "muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMGNT2" EXACT [MONDO:design_pattern] synonym: "POMGNT2 muscular dystrophy-dystroglycanopathy, type A" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, Gtdc2-related" RELATED [OMIM:614830] xref: DOID:0111231 {source="MONDO:equivalentTo"} xref: OMIM:614830 {source="MONDO:equivalentTo"} xref: Orphanet:899 {source="OMIM:614830", source="MONDO:relatedTo"} xref: UMLS:C3553813 {source="OMIM:614830", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000171 {source="MONDO:Redundant", source="OMIM:614830", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A is_a: MONDO:0700075 ! congenital muscular dystrophy caused by variation in POMGNT2 property_value: exactMatch DOID:0111231 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553813 property_value: exactMatch https://omim.org/entry/614830 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013905 name: autosomal recessive spinocerebellar ataxia 13 def: "Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain." [Orphanet:324262] subset: ordo_clinical_subtype {source="Orphanet:324262"} synonym: "autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRM1" EXACT [] synonym: "autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRM1" EXACT [MONDO:design_pattern] synonym: "autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency" EXACT [Orphanet:324262] synonym: "autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency" RELATED [Orphanet:324262] synonym: "autosomal recessive spinocerebellar ataxia 13" EXACT [] synonym: "autosomal recessive spinocerebellar ataxia type 13" EXACT [DOID:0080062, MONDORULE:2, Orphanet:324262] synonym: "GRM1 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "GRM1 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SCAR13" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614831, Orphanet:324262] synonym: "spinocerebellar ataxia, autosomal recessive 13" RELATED [MONDO:Lexical, OMIM:614831] synonym: "spinocerebellar ataxia, autosomal recessive type 13" EXACT [MONDORULE:2, OMIM:614831] xref: DOID:0080062 {source="MONDO:equivalentTo"} xref: OMIM:614831 {source="Orphanet:324262/e", source="MONDO:equivalentTo", source="Orphanet:324262", source="DOID:0080062"} xref: Orphanet:324262 {source="OMIM:614831", source="MONDO:equivalentTo"} xref: UMLS:C3553816 {source="OMIM:614831", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018189 {source="MONDO:Redundant", source="Orphanet:324262"} ! autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome property_value: exactMatch DOID:0080062 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553816 property_value: exactMatch https://omim.org/entry/614831 property_value: exactMatch Orphanet:324262 [Term] id: MONDO:0013906 name: amelogenesis imperfecta hypomaturation type 2A4 def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ODAPH gene." [MONDO:patterns/disease_series_by_gene] synonym: "AI2A4" EXACT ABBREVIATION [DOID:0110062, MONDO:Lexical, OMIM:614832] synonym: "amelogenesis imperfecta caused by mutation in ODAPH" EXACT [MONDO:design_pattern] synonym: "amelogenesis imperfecta hypomaturation type IIA4" EXACT [DOID:0110062] synonym: "amelogenesis imperfecta type IIA4" EXACT [DOID:0110062] synonym: "amelogenesis imperfecta, hypomaturation type, IIA4" RELATED [MONDO:Lexical, OMIM:614832] synonym: "amelogenesis imperfecta, type IIA4" EXACT [OMIM:614832, OMIM:genemap2] synonym: "ODAPH amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110062 {source="MONDO:equivalentTo"} xref: OMIM:614832 {source="DOID:0110062", source="MONDO:equivalentTo"} xref: UMLS:C3553830 {source="OMIM:614832", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015048 {source="Orphanet:100033/btnt"} ! amelogenesis imperfecta type 2 property_value: exactMatch DOID:0110062 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553830 property_value: exactMatch https://omim.org/entry/614832 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013907 name: bilateral generalized polymicrogyria def: "Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat. While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/10786/bilateral-generalized-polymicrogyria] subset: gard_rare {source="GARD:0010786"} subset: ordo_clinical_subtype {source="Orphanet:208447"} synonym: "bilateral generalized polymicrogyria" EXACT [GARD:0010786] synonym: "microcephaly, short stature, and polymicrogyria with or without seizures" RELATED [OMIM:614833] synonym: "microcephaly, short stature, and polymicrogyria with seizures" EXACT [OMIM:614833, OMIM:genemap2] synonym: "MSSP" RELATED ABBREVIATION [OMIM:614833] synonym: "PMGYS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614833] synonym: "polymicrogyria with seizures" RELATED [MONDO:Lexical, OMIM:614833] xref: DOID:0080920 {source="MONDO:equivalentTo"} xref: Orphanet:208447 {source="MONDO:equivalentTo"} xref: UMLS:C3553831 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614833"} is_a: MONDO:0017091 {source="Orphanet:208447"} ! bilateral polymicrogyria is_a: MONDO:0018764 ! microcephalic primordial dwarfism due to RTTN deficiency property_value: exactMatch DOID:0080920 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553831 property_value: exactMatch Orphanet:208447 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10786/bilateral-generalized-polymicrogyria xsd:anyURI {source="GARD:0010786"} [Term] id: MONDO:0013918 name: distal tetrasomy 15q subset: ordo_etiological_subtype {source="Orphanet:314588"} synonym: "distal tetrasomy type 15q" EXACT [MONDORULE:4, Orphanet:314588] synonym: "levy-Shanske syndrome" RELATED [OMIM:614846] synonym: "tetrasomy 15(q25-qter)" EXACT [Orphanet:314588] synonym: "tetrasomy 15q26" EXACT [OMIM:614846, Orphanet:314588] synonym: "tetrasomy type 15Q26" EXACT [MONDORULE:7, OMIM:614846] xref: OMIM:614846 {source="Orphanet:314588", source="MONDO:equivalentTo", source="Orphanet:314588/e"} xref: Orphanet:314588 {source="MONDO:equivalentTo", source="OMIM:614846"} xref: UMLS:C3553858 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614846"} xref: UMLS:CN203770 {source="MONDO:equivalentTo"} is_a: MONDO:0017806 {source="Orphanet:314588"} ! 15q overgrowth syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553858 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203770 property_value: exactMatch https://omim.org/entry/614846 property_value: exactMatch Orphanet:314588 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI [Term] id: MONDO:0013920 name: herpes simplex encephalitis, susceptibility to, 3 def: "A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the TRAF3 gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition synonym: "encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 5" RELATED [OMIM:614849] synonym: "encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 5" RELATED [OMIM:614849] synonym: "encephalopathy, acute, infection-induced, susceptibility to, 5" RELATED [OMIM:614849] synonym: "herpes simplex encephalitis caused by mutation in TRAF3" EXACT [MONDO:design_pattern] synonym: "herpes simplex encephalitis, susceptibility to, 3" EXACT [OMIM:614849] synonym: "Herpes simplex encephalitis, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:614849] synonym: "IIAE5" RELATED ABBREVIATION [OMIM:614849] synonym: "TRAF3 herpes simplex encephalitis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: OMIM:614849 {source="MONDO:equivalentTo"} is_a: MONDO:0015979 {source="OMIM:614849", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary predisposition to infections relationship: predisposes_towards MONDO:0100198 {source="OMIM:614849"} ! Mendelian encephalopathy property_value: exactMatch https://omim.org/entry/614849 property_value: excluded_subClassOf MONDO:0000166 {source="OMIM:614849"} property_value: excluded_subClassOf MONDO:0012521 {source="Orphanet:1930"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4882 xsd:anyURI [Term] id: MONDO:0013921 name: herpes simplex encephalitis, susceptibility to, 4 def: "A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the TICAM1 gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition synonym: "encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 6" RELATED [OMIM:614850] synonym: "encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 6" RELATED [OMIM:614850] synonym: "encephalopathy, acute, infection-induced, susceptibility to, 6" RELATED [OMIM:614850] synonym: "herpes simplex encephalitis caused by mutation in TICAM1" EXACT [MONDO:design_pattern] synonym: "herpes simplex encephalitis, susceptibility to, 4" EXACT [OMIM:614850] synonym: "Herpes simplex encephalitis, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:614850] synonym: "IIAE6" RELATED ABBREVIATION [OMIM:614850] synonym: "TICAM1 herpes simplex encephalitis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: OMIM:614850 {source="MONDO:equivalentTo"} is_a: MONDO:0015979 {source="OMIM:614850", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary predisposition to infections relationship: predisposes_towards MONDO:0100198 {source="OMIM:614850"} ! Mendelian encephalopathy property_value: exactMatch https://omim.org/entry/614850 property_value: excluded_subClassOf MONDO:0000166 {source="OMIM:614850"} property_value: excluded_subClassOf MONDO:0012521 {source="Orphanet:1930/btnt"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4882 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5671 xsd:anyURI [Term] id: MONDO:0013922 name: Seckel syndrome 7 def: "Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated." [Orphanet:319675] comment: ORDO calls this microcephalic primordial dwarfism, Dauber type subset: ordo_malformation_syndrome {source="Orphanet:319675"} synonym: "microcephalic primordial dwarfism, Dauber type" EXACT [Orphanet:319675] synonym: "NIN Seckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SCKL7" EXACT ABBREVIATION [DOID:0070011, MONDO:Lexical, OMIM:614851] synonym: "Seckel syndrome 7" EXACT [MONDO:Lexical, OMIM:614851] synonym: "Seckel syndrome caused by mutation in NIN" EXACT [MONDO:design_pattern] synonym: "Seckel syndrome type 7" EXACT [MONDORULE:1, OMIM:614851] xref: DOID:0070011 {source="MONDO:equivalentTo"} xref: OMIM:614851 {source="Orphanet:319675/e", source="DOID:0070011", source="MONDO:equivalentTo", source="Orphanet:319675"} xref: Orphanet:319675 {source="OMIM:614851", source="MONDO:equivalentTo"} xref: UMLS:C3553870 {source="OMIM:614851", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019342 {source="DC-OMIM:614851", source="DOID:0070011", source="MONDO:Redundant", source="OMIM:614851"} ! Seckel syndrome property_value: exactMatch DOID:0070011 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553870 property_value: exactMatch https://omim.org/entry/614851 property_value: exactMatch Orphanet:319675 [Term] id: MONDO:0013925 name: methylmalonic acidemia with homocystinuria, type cblJ subset: gard_rare {source="GARD:0012621"} subset: ordo_clinical_subtype {source="Orphanet:369955"} synonym: "cblJ defects" EXACT [Orphanet:369955] synonym: "cobalamin J defect" EXACT [Orphanet:369955] synonym: "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ" EXACT [Orphanet:369955] synonym: "MAHCJ" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614857] synonym: "methylmalonic acidemia with homocystinuria type cblJ" RELATED [GARD:0012621] synonym: "methylmalonic aciduria and homocystinuria, cblJ type" RELATED [GARD:0012621, MONDO:Lexical, OMIM:614857] synonym: "methylmalonic aciduria with homocystinuria, type cblJ" EXACT [Orphanet:369955] xref: OMIM:614857 {source="Orphanet:369955", source="MONDO:equivalentTo", source="Orphanet:369955/e"} xref: Orphanet:369955 {source="MONDO:equivalentTo", source="OMIM:614857"} xref: UMLS:C3553915 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614857"} is_a: MONDO:0016826 {source="DC-OMIM:614857", source="Orphanet:369955"} ! methylmalonic aciduria and homocystinuria property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553915 property_value: exactMatch https://omim.org/entry/614857 property_value: exactMatch Orphanet:369955 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12621/methylmalonic-acidemia-with-homocystinuria-type-cblj xsd:anyURI {source="GARD:0012621"} [Term] id: MONDO:0013927 name: peroxisome biogenesis disorder 3A (Zellweger) synonym: "PBD3A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614859] synonym: "peroxisome biogenesis disorder 3A (Zellweger)" EXACT [MONDO:Lexical, OMIM:614859] synonym: "peroxisome biogenesis disorder, complementation group 3" RELATED [OMIM:614859] xref: DOID:0080478 {source="MONDO:equivalentTo"} xref: MESH:C566633 {source="MONDO:equivalentTo"} xref: NCIT:C155752 {source="MONDO:equivalentTo"} xref: OMIM:614859 {source="MONDO:equivalentTo"} xref: UMLS:C3553929 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614859"} is_a: MONDO:0100266 {source="DC-OMIM:614859", source="MONDO:ORDO-Gene", source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX12 defect relationship: has_characteristic MONDO:0100356 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! classic presentation property_value: exactMatch DOID:0080478 property_value: exactMatch http://identifiers.org/mesh/C566633 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553929 property_value: exactMatch https://omim.org/entry/614859 property_value: exactMatch NCIT:C155752 property_value: excluded_subClassOf MONDO:0019234 {source="MONDO:0013927/inferred", source="MONDO:Redundant", source="OMIM:614859"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0013928 name: dystonia 23 def: "Any dystonic disorder in which the cause of the disease is a mutation in the CACNA1B gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:420492"} synonym: "adult-onset cervical dystonia, DYT23 type" RELATED [Orphanet:420492] synonym: "CACNA1B dystonic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "dystonia 23" EXACT [MONDO:Lexical, OMIM:614860, Orphanet:420492] synonym: "dystonia type 23" EXACT [DOID:0090051, MONDORULE:2, OMIM:614860] synonym: "dystonic disorder caused by mutation in CACNA1B" EXACT [MONDO:design_pattern] synonym: "DYT23" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614860, Orphanet:420492] xref: DOID:0090051 {source="MONDO:equivalentTo"} xref: OMIM:614860 {source="DOID:0090051", source="Orphanet:420492/e", source="MONDO:equivalentTo", source="Orphanet:420492"} xref: Orphanet:420492 {source="DOID:0090051", source="OMIM:614860", source="MONDO:equivalentTo"} xref: UMLS:C3538999 {source="OMIM:614860", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000477 {source="DOID:0090051"} ! focal dystonia is_a: MONDO:0015990 {source="Orphanet:420492"} ! focal, segmental or multifocal dystonia property_value: exactMatch DOID:0090051 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3538999 property_value: exactMatch https://omim.org/entry/614860 property_value: exactMatch Orphanet:420492 [Term] id: MONDO:0013930 name: peroxisome biogenesis disorder 4A (Zellweger) synonym: "classic peroxisome biogenesis disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/] synonym: "PBD4A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614862] synonym: "peroxisome biogenesis disorder 4A (Zellweger)" EXACT [MONDO:Lexical, OMIM:614862] synonym: "peroxisome biogenesis disorder, complementation group 4" RELATED [OMIM:614862] synonym: "peroxisome biogenesis disorder, complementation group 6" RELATED [OMIM:614862] synonym: "peroxisome biogenesis disorder, complementation group C" RELATED [OMIM:614862] xref: DOID:0080479 {source="MONDO:equivalentTo"} xref: MESH:C563301 {source="MONDO:equivalentTo"} xref: NCIT:C155754 {source="MONDO:equivalentTo"} xref: OMIM:614862 {source="MONDO:equivalentTo"} xref: UMLS:C3553936 {source="OMIM:614862", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0100263 {source="DC-OMIM:614862", source="MONDO:ORDO-Gene", source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX6 defect relationship: has_characteristic MONDO:0100356 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! classic presentation property_value: exactMatch DOID:0080479 property_value: exactMatch http://identifiers.org/mesh/C563301 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553936 property_value: exactMatch https://omim.org/entry/614862 property_value: exactMatch NCIT:C155754 property_value: excluded_subClassOf MONDO:0019234 {source="MONDO:0013930/inferred", source="MONDO:Redundant", source="OMIM:614862"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0013931 name: peroxisome biogenesis disorder 4B synonym: "non-classic peroxisome biogenesis disorder" BROAD [https://www.clinicalgenome.org/affiliation/40049/] synonym: "PBD4B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614863] synonym: "peroxisome biogenesis disorder 4B" EXACT [MONDO:Lexical, OMIM:614863] synonym: "peroxisome biogenesis disorder type 4B" EXACT [MONDORULE:4, OMIM:614863] xref: NCIT:C155755 {source="MONDO:equivalentTo"} xref: OMIM:614863 {source="MONDO:equivalentTo"} xref: UMLS:C3553937 {source="OMIM:614863", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0100263 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX6 defect relationship: has_characteristic MONDO:0100357 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! non-classic presentation property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553937 property_value: exactMatch https://omim.org/entry/614863 property_value: exactMatch NCIT:C155755 property_value: excluded_subClassOf MONDO:0019234 {source="MONDO:Redundant", source="OMIM:614863"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0013932 name: peroxisome biogenesis disorder 5A (Zellweger) synonym: "PBD5A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614866] synonym: "peroxisome biogenesis disorder 5A (Zellweger)" EXACT [MONDO:Lexical, OMIM:614866] synonym: "peroxisome biogenesis disorder, complementation group 10" RELATED [OMIM:614866] synonym: "peroxisome biogenesis disorder, complementation group 5" RELATED [OMIM:614866] synonym: "peroxisome biogenesis disorder, complementation group F" RELATED [OMIM:614866] xref: DOID:0080480 {source="MONDO:equivalentTo"} xref: NCIT:C155756 {source="MONDO:equivalentTo"} xref: OMIM:614866 {source="MONDO:equivalentTo"} xref: UMLS:C3553940 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614866"} is_a: MONDO:0100260 {source="DC-OMIM:614866", source="MONDO:ORDO-Gene", source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX2 defect relationship: has_characteristic MONDO:0100356 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! classic presentation property_value: exactMatch DOID:0080480 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553940 property_value: exactMatch https://omim.org/entry/614866 property_value: exactMatch NCIT:C155756 property_value: excluded_subClassOf MONDO:0019234 {source="MONDO:0013932/inferred", source="MONDO:Redundant", source="OMIM:614866"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0013934 name: combined immunodeficiency due to STK4 deficiency def: "A rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency)." [https://orcid.org/0000-0001-5208-3432, Orphanet:314689] subset: ordo_disease {source="Orphanet:314689"} synonym: "CID due to STK4 deficiency" EXACT [Orphanet:314689] synonym: "MST1 deficiency" EXACT [OMIM:614868] synonym: "STK4 deficiency" EXACT [OMIM:614868] synonym: "T-cell immunodeficiency, recurrent infections, and autoimmunity with or without CARDIAC malformations" RELATED [MONDO:Lexical, OMIM:614868] synonym: "T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations" EXACT [OMIM:614868, OMIM:genemap2] synonym: "TIIAC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614868] xref: OMIM:614868 {source="Orphanet:314689", source="MONDO:equivalentTo", source="Orphanet:314689/e"} xref: Orphanet:314689 {source="MONDO:equivalentTo", source="OMIM:614868"} xref: UMLS:C3553943 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614868"} is_a: MONDO:0015131 {source="https://orcid.org/0000-0001-5208-3432"} ! combined immunodeficiency property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553943 property_value: exactMatch https://omim.org/entry/614868 property_value: exactMatch Orphanet:314689 property_value: excluded_subClassOf MONDO:0018814 {source="Orphanet:314689"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013936 name: peroxisome biogenesis disorder 6A (Zellweger) synonym: "PBD6A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614870] synonym: "peroxisome biogenesis disorder 6A (Zellweger)" EXACT [MONDO:Lexical, OMIM:614870] synonym: "peroxisome biogenesis disorder, complementation group 7" RELATED [OMIM:614870] synonym: "peroxisome biogenesis disorder, complementation group B" RELATED [OMIM:614870] xref: DOID:0080481 {source="MONDO:equivalentTo"} xref: MESH:C566422 {source="MONDO:equivalentTo"} xref: NCIT:C155758 {source="MONDO:equivalentTo"} xref: OMIM:614870 {source="MONDO:equivalentTo"} xref: UMLS:C3553947 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614870"} is_a: MONDO:0100264 {source="DC-OMIM:614870", source="MONDO:ORDO-Gene", source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX10 defect relationship: has_characteristic MONDO:0100356 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! classic presentation property_value: exactMatch DOID:0080481 property_value: exactMatch http://identifiers.org/mesh/C566422 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553947 property_value: exactMatch https://omim.org/entry/614870 property_value: exactMatch NCIT:C155758 property_value: excluded_subClassOf MONDO:0019234 {source="MONDO:0013936/inferred", source="MONDO:Redundant", source="OMIM:614870"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0013937 name: peroxisome biogenesis disorder 6B synonym: "PBD6B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614871] synonym: "peroxisome biogenesis disorder 6B" EXACT [MONDO:Lexical, OMIM:614871] synonym: "peroxisome biogenesis disorder type 6B" EXACT [MONDORULE:4, OMIM:614871] xref: NCIT:C155759 {source="MONDO:equivalentTo"} xref: OMIM:614871 {source="MONDO:equivalentTo"} xref: UMLS:C3553948 {source="OMIM:614871", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0100264 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX10 defect relationship: has_characteristic MONDO:0100357 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! non-classic presentation property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553948 property_value: exactMatch https://omim.org/entry/614871 property_value: exactMatch NCIT:C155759 property_value: excluded_subClassOf MONDO:0019234 {source="MONDO:Redundant", source="OMIM:614871"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0013938 name: peroxisome biogenesis disorder 7A (Zellweger) synonym: "PBD7A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614872] synonym: "peroxisome biogenesis disorder 7A (Zellweger)" EXACT [MONDO:Lexical, OMIM:614872] synonym: "peroxisome biogenesis disorder, complementation group 8" RELATED [OMIM:614872] synonym: "peroxisome biogenesis disorder, complementation group A" RELATED [OMIM:614872] xref: DOID:0080482 {source="MONDO:equivalentTo"} xref: OMIM:614872 {source="MONDO:equivalentTo"} xref: UMLS:C3888385 {source="MONDO:equivalentTo"} is_a: MONDO:0100271 {source="DC-OMIM:614872", source="MONDO:ORDO-Gene", source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX26 defect relationship: has_characteristic MONDO:0100356 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! classic presentation property_value: exactMatch DOID:0080482 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888385 property_value: exactMatch https://omim.org/entry/614872 property_value: excluded_subClassOf MONDO:0019234 {source="MONDO:0013938/inferred", source="MONDO:Redundant", source="OMIM:614872"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0013941 name: metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria def: "Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay." [Orphanet:99646] subset: ordo_disease {source="Orphanet:99646"} synonym: "metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria" EXACT [OMIM:614875] synonym: "metaphyseal Enchondrodysplasia with 2-hydroxyglutaric aciduria" RELATED [OMIM:614875] synonym: "metaphyseal enchondromatosis with D-2-hydroxyglutaric aciduria" RELATED [OMIM:614875] synonym: "spondyloenchondromatosis with D-2-hydroxyglutaric aciduria" RELATED [OMIM:614875] xref: OMIM:614875 {source="Orphanet:99646", source="MONDO:equivalentTo", source="Orphanet:99646/e"} xref: Orphanet:99646 {source="OMIM:614875", source="MONDO:equivalentTo"} xref: UMLS:C3553958 {source="OMIM:614875", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0800089 {source="PMID:31633310"} ! primary bone dysplasia with disorganized development of skeletal components property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553958 property_value: exactMatch https://omim.org/entry/614875 property_value: exactMatch Orphanet:99646 property_value: excluded_subClassOf MONDO:0019708 {source="Orphanet:99646"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0013942 name: peroxisome biogenesis disorder 8A (Zellweger) synonym: "PBD8A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614876] synonym: "peroxisome biogenesis disorder 8A (Zellweger)" EXACT [MONDO:Lexical, OMIM:614876] synonym: "peroxisome biogenesis disorder, complementation group 9" RELATED [OMIM:614876] synonym: "peroxisome biogenesis disorder, complementation group D" RELATED [OMIM:614876] xref: DOID:0080483 {source="MONDO:equivalentTo"} xref: OMIM:614876 {source="MONDO:equivalentTo"} xref: UMLS:C3553959 {source="OMIM:614876", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0100269 {source="DC-OMIM:614876", source="MONDO:ORDO-Gene", source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX16 defect relationship: has_characteristic MONDO:0100356 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! classic presentation property_value: exactMatch DOID:0080483 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553959 property_value: exactMatch https://omim.org/entry/614876 property_value: excluded_subClassOf MONDO:0019234 {source="MONDO:0013942/inferred", source="MONDO:Redundant", source="OMIM:614876"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0013944 name: autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation subset: ordo_disease {source="Orphanet:324530"} synonym: "APLAID" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614878, Orphanet:324530] synonym: "autoinflammation, antibody deficiency, and immune dysregulation syndrome" EXACT [OMIM:614878, OMIM:genemap2] synonym: "AUTOINFLAMMATION, antibody deficiency, and immune dysregulation, PLCG2-associated" RELATED [MONDO:Lexical, OMIM:614878] xref: OMIM:614878 {source="Orphanet:324530/e", source="MONDO:equivalentTo", source="Orphanet:324530"} xref: Orphanet:324530 {source="MONDO:equivalentTo", source="OMIM:614878"} xref: UMLS:C3553961 {source="MONDO:equivalentTo", source="OMIM:614878", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019751 {source="Orphanet:324530"} ! autoinflammatory syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553961 property_value: exactMatch https://omim.org/entry/614878 property_value: exactMatch Orphanet:324530 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013947 name: young adult-onset distal hereditary motor neuropathy def: "Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared." [Orphanet:314485] subset: ordo_disease {source="Orphanet:314485"} synonym: "autosomal recessive distal spinal muscular atrophy type 5" EXACT [Orphanet:314485] synonym: "DSMA5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614881] synonym: "dSMA5" EXACT [Orphanet:314485] synonym: "spinal muscular atrophy, distal, autosomal recessive, 5" RELATED [MONDO:Lexical, OMIM:614881] synonym: "spinal muscular atrophy, distal, autosomal recessive, type 5" EXACT [MONDORULE:1, OMIM:614881] synonym: "Young adult-onset dHMN" EXACT [Orphanet:314485] xref: DOID:0111214 {source="MONDO:equivalentTo"} xref: OMIM:614881 {source="Orphanet:314485/e", source="MONDO:equivalentTo", source="Orphanet:314485"} xref: Orphanet:314485 {source="MONDO:equivalentTo", source="OMIM:614881"} xref: UMLS:C3553989 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614881"} is_a: EFO:0008525 {source="DC-OMIM:614881"} ! spinal muscular atrophy is_a: MONDO:0015363 {source="Orphanet:314485"} ! autosomal recessive distal hereditary motor neuropathy property_value: exactMatch DOID:0111214 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553989 property_value: exactMatch https://omim.org/entry/614881 property_value: exactMatch Orphanet:314485 [Term] id: MONDO:0013948 name: peroxisome biogenesis disorder 10A (Zellweger) synonym: "PBD10A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614882] synonym: "peroxisome biogenesis disorder 10A (Zellweger)" EXACT [MONDO:Lexical, OMIM:614882] synonym: "peroxisome biogenesis disorder, complementation group 12" RELATED [OMIM:614882] synonym: "peroxisome biogenesis disorder, complementation group G" RELATED [OMIM:614882] xref: DOID:0080484 {source="MONDO:equivalentTo"} xref: OMIM:614882 {source="MONDO:equivalentTo"} xref: UMLS:C3553999 {source="OMIM:614882", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0100261 {source="DC-OMIM:614882", source="MONDO:ORDO-Gene", source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX3 defect relationship: has_characteristic MONDO:0100356 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! classic presentation property_value: exactMatch DOID:0080484 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553999 property_value: exactMatch https://omim.org/entry/614882 property_value: excluded_subClassOf MONDO:0019234 {source="MONDO:0013948/inferred", source="MONDO:Redundant", source="OMIM:614882"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0013949 name: peroxisome biogenesis disorder 11A (Zellweger) synonym: "PBD11A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614883] synonym: "peroxisome biogenesis disorder 11A (Zellweger)" EXACT [MONDO:Lexical, OMIM:614883] synonym: "peroxisome biogenesis disorder, complementation group 13" RELATED [OMIM:614883] synonym: "peroxisome biogenesis disorder, complementation group H" RELATED [OMIM:614883] xref: DOID:0080485 {source="MONDO:equivalentTo"} xref: OMIM:614883 {source="MONDO:equivalentTo"} xref: UMLS:C3554000 {source="OMIM:614883", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0100267 {source="DC-OMIM:614883", source="MONDO:ORDO-Gene", source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX13 defect relationship: has_characteristic MONDO:0100356 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! classic presentation property_value: exactMatch DOID:0080485 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554000 property_value: exactMatch https://omim.org/entry/614883 property_value: excluded_subClassOf MONDO:0019234 {source="MONDO:0013949/inferred", source="MONDO:Redundant", source="OMIM:614883"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0013950 name: peroxisome biogenesis disorder 11B synonym: "PBD11B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614885] synonym: "peroxisome biogenesis disorder 11B" EXACT [MONDO:Lexical, OMIM:614885] synonym: "peroxisome biogenesis disorder type 11B" EXACT [MONDORULE:4, OMIM:614885] xref: OMIM:614885 {source="MONDO:equivalentTo"} xref: UMLS:C3554001 {source="OMIM:614885", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0100267 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX13 defect relationship: has_characteristic MONDO:0100357 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! non-classic presentation property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554001 property_value: exactMatch https://omim.org/entry/614885 property_value: excluded_subClassOf MONDO:0019234 {source="MONDO:Redundant", source="OMIM:614885"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0013951 name: peroxisome biogenesis disorder 12A (Zellweger) synonym: "Cg14" RELATED [OMIM:614886] synonym: "Cgj" RELATED [OMIM:614886] synonym: "PBD12A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614886] synonym: "peroxisome biogenesis disorder 12A (Zellweger)" EXACT [MONDO:Lexical, OMIM:614886] synonym: "peroxisome biogenesis disorder, complementation group 14" RELATED [OMIM:614886] synonym: "peroxisome biogenesis disorder, complementation group J" RELATED [OMIM:614886] xref: DOID:0080486 {source="MONDO:equivalentTo"} xref: OMIM:614886 {source="MONDO:equivalentTo"} xref: UMLS:C3554002 {source="OMIM:614886", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0100270 {source="DC-OMIM:614886", source="MONDO:ORDO-Gene", source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX19 defect relationship: has_characteristic MONDO:0100356 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! classic presentation property_value: exactMatch DOID:0080486 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554002 property_value: exactMatch https://omim.org/entry/614886 property_value: excluded_subClassOf MONDO:0019234 {source="MONDO:0013951/inferred", source="MONDO:Redundant", source="OMIM:614886"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0013952 name: peroxisome biogenesis disorder 13A (Zellweger) synonym: "PBD13A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614887] synonym: "peroxisome biogenesis disorder 13A (Zellweger)" EXACT [MONDO:Lexical, OMIM:614887] synonym: "peroxisome biogenesis disorder, complementation group K" RELATED [OMIM:614887] xref: DOID:0080487 {source="MONDO:equivalentTo"} xref: MESH:C566624 {source="MONDO:equivalentTo"} xref: OMIM:614887 {source="MONDO:equivalentTo"} xref: UMLS:C3554004 {source="OMIM:614887", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0100268 {source="DC-OMIM:614887", source="MONDO:ORDO-Gene", source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX14 defect relationship: has_characteristic MONDO:0100356 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! classic presentation property_value: exactMatch DOID:0080487 property_value: exactMatch http://identifiers.org/mesh/C566624 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554004 property_value: exactMatch https://omim.org/entry/614887 property_value: excluded_subClassOf MONDO:0019234 {source="MONDO:0013952/inferred", source="MONDO:Redundant", source="OMIM:614887"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0013954 name: Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency def: "Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12B gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:319558"} subset: predisposition synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12B" EXACT [] synonym: "IL12B autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "IL12B deficiency" RELATED [OMIM:614890] synonym: "IMD29" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614890] synonym: "immunodeficiency 29" RELATED [MONDO:Lexical, OMIM:614890] synonym: "immunodeficiency 29, mycobacteriosis" EXACT [OMIM:614890, OMIM:genemap2] synonym: "immunodeficiency type 29" EXACT [MONDORULE:2, OMIM:614890] synonym: "Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency" EXACT [Orphanet:319558] synonym: "MSMD due to complete IL12B deficiency" EXACT [Orphanet:319558] synonym: "MSMD due to complete interleukin 12B deficiency" EXACT [Orphanet:319558] xref: DOID:0111950 {source="MONDO:equivalentTo"} xref: OMIM:614890 {source="Orphanet:319558/e", source="MONDO:equivalentTo", source="Orphanet:319558"} xref: Orphanet:319558 {source="MONDO:equivalentTo", source="OMIM:614890"} xref: UMLS:C4013948 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019146 ! inherited susceptibility to mycobacterial diseases property_value: exactMatch DOID:0111950 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4013948 property_value: exactMatch https://omim.org/entry/614890 property_value: exactMatch Orphanet:319558 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013955 name: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency def: "Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12RB1 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:319552"} subset: predisposition synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12RB1" EXACT [] synonym: "IL-12Râ1 deficiency" RELATED [GARD:0010984] synonym: "IL12RB1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "IL12RB1 deficiency" RELATED [OMIM:614891] synonym: "IMD30" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614891] synonym: "immunodeficiency 30" RELATED [MONDO:Lexical, OMIM:614891] synonym: "immunodeficiency type 30" EXACT [MONDORULE:2, OMIM:614891] synonym: "Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency" EXACT [Orphanet:319552] synonym: "Mendelian susceptibility to mycobacterial infections due to IL12 deficiency" RELATED [GARD:0010984] synonym: "MSMD due to complete IL12RB1 deficiency" EXACT [Orphanet:319552] synonym: "MSMD due to complete interleukin 12 receptor beta 1 deficiency" EXACT [Orphanet:319552] xref: DOID:0111990 {source="MONDO:equivalentTo"} xref: OMIM:614891 {source="MONDO:equivalentTo", source="Orphanet:319552", source="Orphanet:319552/e"} xref: Orphanet:319552 {source="MONDO:equivalentTo", source="OMIM:614891"} xref: UMLS:C4013949 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019146 ! inherited susceptibility to mycobacterial diseases property_value: exactMatch DOID:0111990 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4013949 property_value: exactMatch https://omim.org/entry/614891 property_value: exactMatch Orphanet:319552 [Term] id: MONDO:0013956 name: Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency def: "A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections." [https://orcid.org/0000-0001-5208-3432, Orphanet:319595] subset: ordo_disease {source="Orphanet:319595"} subset: predisposition synonym: "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in STAT1" EXACT [] synonym: "IMD31A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614892] synonym: "immunodeficiency 31A" RELATED [MONDO:Lexical, OMIM:614892] synonym: "immunodeficiency 31A, Mycobacteriosis, autosomal dominant" RELATED [OMIM:614892] synonym: "immunodeficiency type 31A" EXACT [MONDORULE:4, OMIM:614892] synonym: "Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency" EXACT [Orphanet:319595] synonym: "MSMD due to partial signal transducer and activator of transcription 1 deficiency" EXACT [Orphanet:319595] synonym: "MSMD due to partial STAT1 deficiency" EXACT [Orphanet:319595] synonym: "STAT1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Stat1 deficiency, autosomal dominant" RELATED [OMIM:614892] xref: DOID:0111945 {source="MONDO:equivalentTo"} xref: OMIM:614892 {source="MONDO:equivalentTo", source="Orphanet:319595", source="Orphanet:319595/e"} xref: Orphanet:319595 {source="MONDO:equivalentTo", source="OMIM:614892"} xref: UMLS:C4013950 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019146 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited susceptibility to mycobacterial diseases property_value: exactMatch DOID:0111945 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4013950 property_value: exactMatch https://omim.org/entry/614892 property_value: exactMatch Orphanet:319595 [Term] id: MONDO:0013957 name: Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency def: "A rare genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guerin (BCG)." [https://orcid.org/0000-0001-5208-3432, Orphanet:319600] subset: ordo_disease {source="Orphanet:319600"} subset: predisposition synonym: "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IRF8" EXACT [] synonym: "CD11c-positive/CD1c-positive Dendritic cell deficiency, autosomal dominant" RELATED [OMIM:614893] synonym: "IMD32A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614893] synonym: "immunodeficiency 32A" RELATED [MONDO:Lexical, OMIM:614893] synonym: "immunodeficiency 32A, Mycobacteriosis, autosomal dominant" RELATED [OMIM:614893] synonym: "immunodeficiency type 32A" EXACT [MONDORULE:4, OMIM:614893] synonym: "IRF8 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "IRF8 deficiency, autosomal dominant" RELATED [OMIM:614893] synonym: "Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency" EXACT [Orphanet:319600] synonym: "MSMD due to partial interferon regulatory factor 8 deficiency" EXACT [Orphanet:319600] synonym: "MSMD due to partial IRF8 deficiency" EXACT [Orphanet:319600] xref: DOID:0111986 {source="MONDO:equivalentTo"} xref: OMIM:614893 {source="Orphanet:319600/e", source="MONDO:equivalentTo", source="Orphanet:319600"} xref: Orphanet:319600 {source="OMIM:614893", source="MONDO:equivalentTo"} xref: UMLS:C3808589 {source="OMIM:614893", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019146 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited susceptibility to mycobacterial diseases property_value: exactMatch DOID:0111986 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808589 property_value: exactMatch https://omim.org/entry/614893 property_value: exactMatch Orphanet:319600 [Term] id: MONDO:0013959 name: Charcot-Marie-Tooth disease type 4F def: "Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones." [Orphanet:99952] subset: gard_rare {source="GARD:0012441"} subset: ordo_disease {source="Orphanet:99952"} synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in PRX" EXACT [] synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in Prx" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 4F" RELATED [MONDO:Lexical, OMIM:614895] synonym: "Charcot-Marie-Tooth disease, type 4F" EXACT [OMIM:614895, OMIM:genemap2] synonym: "CMT4F" EXACT ABBREVIATION [DOID:0110193, MONDO:Lexical, OMIM:614895, Orphanet:99952] synonym: "PRX Charcot-Marie-Tooth disease type 4" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Prx Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern] xref: DOID:0110193 {source="MONDO:equivalentTo"} xref: OMIM:614895 {source="Orphanet:99952", source="MONDO:equivalentTo", source="DOID:0110193", source="Orphanet:99952/e"} xref: Orphanet:99952 {source="OMIM:614895", source="MONDO:equivalentTo", source="DOID:0110193"} xref: SCTID:715801001 {source="MONDO:equivalentTo"} xref: UMLS:C3540453 {source="OMIM:614895", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018995 {source="DOID:0110193", source="MONDO:Redundant", source="Orphanet:99952"} ! Charcot-Marie-Tooth disease type 4 property_value: exactMatch DOID:0110193 property_value: exactMatch http://identifiers.org/snomedct/715801001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3540453 property_value: exactMatch https://omim.org/entry/614895 property_value: exactMatch Orphanet:99952 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12441/charcot-marie-tooth-disease-type-4f xsd:anyURI {source="GARD:0012441"} [Term] id: MONDO:0013960 name: sinoatrial node dysfunction and deafness def: "Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress." [Orphanet:324321] subset: ordo_disease {source="Orphanet:324321"} synonym: "SANDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614896] synonym: "sinoatrial node dysfunction and deafness" EXACT [MONDO:Lexical, OMIM:614896] xref: OMIM:614896 {source="Orphanet:324321/e", source="MONDO:equivalentTo", source="Orphanet:324321"} xref: Orphanet:324321 {source="OMIM:614896", source="MONDO:equivalentTo"} xref: UMLS:C3554018 {source="OMIM:614896", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0007263 {source="https://orcid.org/0000-0001-5208-3432"} ! cardiac rhythm disease relationship: disease_has_feature MONDO:0000469 ! sinoatrial node disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554018 property_value: exactMatch https://omim.org/entry/614896 property_value: exactMatch Orphanet:324321 [Term] id: MONDO:0013962 name: hereditary spastic paraplegia 53 def: "A very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A." [Orphanet:319199] subset: ordo_disease {source="Orphanet:319199"} synonym: "autosomal recessive complex spastic paraplegia caused by mutation in VPS37A" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 53" EXACT [DOID:0110805] synonym: "autosomal recessive spastic paraplegia type 53" EXACT [DOID:0110805] synonym: "hereditary spastic paraplegia 53" EXACT [] synonym: "hereditary spastic paraplegia type 53" EXACT [DOID:0110805, MONDORULE:2] synonym: "spastic paraplegia 53, autosomal recessive" RELATED [MONDO:Lexical, OMIM:614898] synonym: "SPG53" EXACT ABBREVIATION [DOID:0110805, MONDO:Lexical, OMIM:614898, Orphanet:319199] synonym: "VPS37A autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110805 {source="MONDO:equivalentTo"} xref: OMIM:614898 {source="MONDO:equivalentTo", source="DOID:0110805", source="Orphanet:319199", source="Orphanet:319199/e"} xref: Orphanet:319199 {source="OMIM:614898", source="MONDO:equivalentTo", source="DOID:0110805"} xref: SCTID:723823004 {source="MONDO:equivalentTo"} xref: UMLS:C3539494 {source="OMIM:614898", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4510082 {source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="MONDO:Redundant", source="Orphanet:319199"} ! autosomal recessive complex spastic paraplegia property_value: exactMatch DOID:0110805 property_value: exactMatch http://identifiers.org/snomedct/723823004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3539494 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510082 property_value: exactMatch https://omim.org/entry/614898 property_value: exactMatch Orphanet:319199 [Term] id: MONDO:0013967 name: peroxisome biogenesis disorder 14B synonym: "peroxisome biogenesis disorder 14B" EXACT [MONDO:Lexical, OMIM:614920] synonym: "peroxisome biogenesis disorder type 14B" EXACT [MONDORULE:4, OMIM:614920] synonym: "PEX11B peroxisome biogenesis disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "PEX14B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614920] xref: DOID:0081274 {source="MONDO:equivalentTo"} xref: OMIM:614920 {source="MONDO:equivalentTo"} xref: UMLS:C3554055 {source="OMIM:614920", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0100279 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX11B defect relationship: has_characteristic MONDO:0100357 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! non-classic presentation property_value: exactMatch DOID:0081274 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554055 property_value: exactMatch https://omim.org/entry/614920 property_value: excluded_subClassOf MONDO:0019234 {source="MONDO:Redundant", source="OMIM:614920"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0013968 name: PGM1-congenital disorder of glycosylation subset: ordo_disease {source="Orphanet:319646"} synonym: "CDG it" RELATED [OMIM:614921] synonym: "CDG syndrome type It" EXACT [Orphanet:319646] synonym: "CDG-It" EXACT [Orphanet:319646] synonym: "CDG1T" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614921, Orphanet:319646] synonym: "congenital disorder of glycosylation type 1t" EXACT [Orphanet:319646] synonym: "congenital disorder of glycosylation type It" EXACT [Orphanet:319646] synonym: "congenital disorder of glycosylation, type It" RELATED [MONDO:Lexical, OMIM:614921] synonym: "glycogen storage disease 14" RELATED [OMIM:614921] synonym: "glycogen storage disease due to phosphoglucomutase deficiency" RELATED [GARD:0004329] synonym: "GSD 14" RELATED [OMIM:614921] synonym: "GSD type 14" RELATED [GARD:0004329] synonym: "GSDXIV" RELATED ABBREVIATION [GARD:0004329] synonym: "Pgm1 deficiency" RELATED [OMIM:614921] synonym: "PGM1-CDG" EXACT ABBREVIATION [Orphanet:319646] synonym: "PGM1-congenital disorder of glycosylation" EXACT [] synonym: "phosphoglucomutase 1 deficiency" RELATED [OMIM:614921] synonym: "phosphoglucomutase deficiency type 1" RELATED [GARD:0004329] synonym: "phosphoglucomutase-1 deficiency" EXACT [Orphanet:319646] synonym: "type 14 glycogenosis" RELATED [GARD:0004329] xref: DOID:0080570 {source="MONDO:equivalentTo"} xref: MESH:C567859 {source="MONDO:equivalentTo"} xref: OMIM:614921 {source="Orphanet:319646/e", source="MONDO:equivalentTo", source="Orphanet:319646"} xref: Orphanet:319646 {source="MONDO:equivalentTo", source="OMIM:614921"} xref: UMLS:C2752015 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:319646"} is_a: EFO:0005545 {source="DC-OMIM:614921"} ! congenital disorder of glycosylation type I is_a: MONDO:0016333 ! familial dilated cardiomyopathy is_a: MONDO:0017740 {source="Orphanet:319646"} ! disorder of protein N-glycosylation property_value: exactMatch DOID:0080570 property_value: exactMatch http://identifiers.org/mesh/C567859 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2752015 property_value: exactMatch https://omim.org/entry/614921 property_value: exactMatch Orphanet:319646 [Term] id: MONDO:0013969 name: combined oxidative phosphorylation defect type 11 def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the RMND1 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:324535"} synonym: "combined oxidative phosphorylation defect type 11" EXACT [] synonym: "combined oxidative phosphorylation deficiency 11" RELATED [MONDO:Lexical, OMIM:614922] synonym: "combined oxidative phosphorylation deficiency caused by mutation in RMND1" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 11" EXACT [MONDORULE:2, OMIM:614922] synonym: "COXPD11" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614922, Orphanet:324535] synonym: "Encephaloneuromyopathy, infantile, due to mitochondrial translation defect" RELATED [OMIM:614922] synonym: "RMND1 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111481 {source="MONDO:equivalentTo"} xref: OMIM:614922 {source="Orphanet:324535", source="MONDO:equivalentTo", source="Orphanet:324535/e"} xref: Orphanet:324535 {source="MONDO:equivalentTo", source="OMIM:614922"} xref: UMLS:C3554067 {source="MONDO:equivalentTo", source="OMIM:614922", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000732 {source="DC-OMIM:614922", source="MONDO:Redundant", source="OMIM:614922"} ! combined oxidative phosphorylation deficiency property_value: exactMatch DOID:0111481 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554067 property_value: exactMatch https://omim.org/entry/614922 property_value: exactMatch Orphanet:324535 [Term] id: MONDO:0013970 name: branched-chain keto acid dehydrogenase kinase deficiency def: "A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids." [https://orcid.org/0000-0001-5208-3432, Orphanet:308410] subset: ordo_disease {source="Orphanet:308410"} synonym: "autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency" EXACT [DOID:0090126] synonym: "BCKDK deficiency" EXACT [DOID:0090126] synonym: "Bckdk deficiency" RELATED [OMIM:614923] synonym: "BCKDKD" EXACT ABBREVIATION [DOID:0090126, MONDO:Lexical, OMIM:614923] synonym: "branched-chain KETO acid dehydrogenase KINASE deficiency" RELATED [OMIM:614923] synonym: "branched-chain keto acid dehydrogenase kinase deficiency" EXACT [MONDO:Lexical, OMIM:614923] xref: DOID:0090126 {source="MONDO:equivalentTo"} xref: OMIM:614923 {source="Orphanet:308410/e", source="MONDO:equivalentTo", source="DOID:0090126", source="Orphanet:308410"} xref: Orphanet:308410 {source="MONDO:equivalentTo", source="DOID:0090126", source="OMIM:614923"} xref: UMLS:C3554078 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614923"} is_a: EFO:1000017 {source="DOID:0090126", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0019242 {source="Orphanet:308410", source="PMID:33340416"} ! inborn disorder of branched-chain amino acid metabolism property_value: exactMatch DOID:0090126 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554078 property_value: exactMatch https://omim.org/entry/614923 property_value: exactMatch Orphanet:308410 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0013971 name: leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome def: "Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward." [Orphanet:314051] subset: ordo_disease {source="Orphanet:314051"} synonym: "combined oxidative phosphorylation defect type 12" EXACT [Orphanet:314051] synonym: "combined oxidative phosphorylation deficiency 12" RELATED [MONDO:Lexical, OMIM:614924] synonym: "combined oxidative phosphorylation deficiency caused by mutation in EARS2" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 12" EXACT [MONDORULE:2, OMIM:614924] synonym: "COXPD12" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614924, Orphanet:314051] synonym: "EARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "leukoencephalopathy with thalamus and brainstem involvement and high lactate" RELATED [OMIM:614924] synonym: "leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome" EXACT [] synonym: "LTBL" EXACT ABBREVIATION [Orphanet:314051] xref: DOID:0111493 {source="MONDO:equivalentTo"} xref: OMIM:614924 {source="MONDO:equivalentTo", source="Orphanet:314051", source="Orphanet:314051/e"} xref: Orphanet:314051 {source="MONDO:equivalentTo", source="OMIM:614924"} xref: SCTID:763366000 {source="MONDO:equivalentTo"} xref: UMLS:C3554079 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614924"} is_a: MONDO:0000732 {source="DC-OMIM:614924", source="MONDO:Redundant", source="OMIM:614924"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0019046 {source="Orphanet:314051"} ! leukodystrophy property_value: exactMatch DOID:0111493 property_value: exactMatch http://identifiers.org/snomedct/763366000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554079 property_value: exactMatch https://omim.org/entry/614924 property_value: exactMatch Orphanet:314051 [Term] id: MONDO:0013972 name: Perrault syndrome 2 def: "Any Perrault syndrome in which the cause of the disease is a mutation in the HARS2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "HARS2 Perrault syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Perrault syndrome 2" EXACT [MONDO:Lexical, OMIM:614926] synonym: "Perrault syndrome caused by mutation in HARS2" EXACT [MONDO:design_pattern] synonym: "Perrault syndrome type 2" EXACT [MONDORULE:1, OMIM:614926, Orphanet:642976] synonym: "PRLTS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614926] xref: OMIM:614926 {source="MONDO:equivalentTo"} xref: Orphanet:642976 {source="MONDO:equivalentTo"} xref: UMLS:C3554105 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614926"} is_a: MONDO:0017312 {source="DC-OMIM:614926", source="MONDO:Redundant", source="OMIM:614926"} ! Perrault syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554105 property_value: exactMatch https://omim.org/entry/614926 property_value: exactMatch Orphanet:642976 [Term] id: MONDO:0013977 name: combined oxidative phosphorylation defect type 13 def: "Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive." [Orphanet:319514] subset: ordo_disease {source="Orphanet:319514"} synonym: "combined oxidative phosphorylation deficiency 13" RELATED [MONDO:Lexical, OMIM:614932] synonym: "combined oxidative phosphorylation deficiency caused by mutation in PNPT1" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 13" EXACT [MONDORULE:2, OMIM:614932] synonym: "COXPD13" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614932, Orphanet:319514] synonym: "PNPT1 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111467 {source="MONDO:equivalentTo"} xref: OMIM:614932 {source="Orphanet:319514/e", source="MONDO:equivalentTo", source="Orphanet:319514"} xref: Orphanet:319514 {source="MONDO:equivalentTo", source="OMIM:614932"} xref: SCTID:763110007 {source="MONDO:equivalentTo"} xref: UMLS:C3554129 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614932"} is_a: MONDO:0000732 {source="DC-OMIM:614932", source="MONDO:Redundant", source="OMIM:614932"} ! combined oxidative phosphorylation deficiency property_value: exactMatch DOID:0111467 property_value: exactMatch http://identifiers.org/snomedct/763110007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554129 property_value: exactMatch https://omim.org/entry/614932 property_value: exactMatch Orphanet:319514 [Term] id: MONDO:0013981 name: myoclonus, familial def: "A rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most of cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent." [Orphanet:319189] subset: ordo_disease {source="Orphanet:319189"} synonym: "familial cortical myoclonus" EXACT [OMIM:614937] synonym: "familial myoclonus" EXACT [OMIMPS:614937] synonym: "FCM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614937] synonym: "myoclonus, familial cortical" EXACT [MONDO:Lexical, OMIM:614937] xref: OMIMPS:614937 {source="MONDO:equivalentTo", source="Orphanet:319189", source="Orphanet:319189/e"} xref: Orphanet:319189 {source="MONDO:equivalentTo", source="OMIM:614937"} xref: SCTID:763770005 {source="MONDO:equivalentTo"} xref: UMLS:C3539916 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614937"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0017651 {source="Orphanet:319189"} ! primary myoclonus property_value: exactMatch http://identifiers.org/snomedct/763770005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3539916 property_value: exactMatch https://omim.org/phenotypicSeries/PS614937 property_value: exactMatch Orphanet:319189 [Term] id: MONDO:0013986 name: combined oxidative phosphorylation defect type 14 def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the FARS2 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:319519"} synonym: "combined oxidative phosphorylation deficiency 14" RELATED [MONDO:Lexical, OMIM:614946] synonym: "combined oxidative phosphorylation deficiency caused by mutation in FARS2" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 14" EXACT [MONDORULE:2, OMIM:614946] synonym: "COXPD14" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614946, Orphanet:319519] synonym: "FARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111477 {source="MONDO:equivalentTo"} xref: OMIM:614946 {source="Orphanet:319519", source="MONDO:equivalentTo", source="Orphanet:319519/e"} xref: Orphanet:319519 {source="MONDO:equivalentTo", source="OMIM:614946"} xref: UMLS:C3554168 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614946"} is_a: MONDO:0000732 {source="DC-OMIM:614946", source="MONDO:Redundant", source="OMIM:614946"} ! combined oxidative phosphorylation deficiency property_value: exactMatch DOID:0111477 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554168 property_value: exactMatch https://omim.org/entry/614946 property_value: exactMatch Orphanet:319519 [Term] id: MONDO:0013987 name: combined oxidative phosphorylation defect type 15 def: "Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported." [Orphanet:319524] subset: ordo_disease {source="Orphanet:319524"} synonym: "combined oxidative phosphorylation defect type 15" EXACT [] synonym: "combined oxidative phosphorylation deficiency 15" RELATED [MONDO:Lexical, OMIM:614947] synonym: "combined oxidative phosphorylation deficiency caused by mutation in MTFMT" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 15" EXACT [MONDORULE:2, OMIM:614947] synonym: "COXPD15" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614947, Orphanet:319524] synonym: "MTFMT combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111491 {source="MONDO:equivalentTo"} xref: OMIM:614947 {source="Orphanet:319524/e", source="MONDO:equivalentTo", source="Orphanet:319524"} xref: Orphanet:319524 {source="MONDO:equivalentTo", source="OMIM:614947"} xref: SCTID:763203009 {source="MONDO:equivalentTo"} xref: UMLS:C3554182 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614947"} is_a: MONDO:0000732 {source="DC-OMIM:614947", source="MONDO:Redundant", source="OMIM:614947"} ! combined oxidative phosphorylation deficiency property_value: exactMatch DOID:0111491 property_value: exactMatch http://identifiers.org/snomedct/763203009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554182 property_value: exactMatch https://omim.org/entry/614947 property_value: exactMatch Orphanet:319524 [Term] id: MONDO:0013989 name: developmental and epileptic encephalopathy, 14 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNT1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "DEE14" EXACT ABBREVIATION [OMIM:614959] synonym: "developmental and epileptic encephalopathy 14" EXACT [OMIM:614959, OMIM:genemap2] synonym: "early infantile epileptic encephalopathy caused by mutation in KCNT1" EXACT [MONDO:design_pattern] synonym: "EIEE14" EXACT ABBREVIATION [OMIM:614959] synonym: "epileptic encephalopathy, early infantile, 14" EXACT [MONDO:Lexical, OMIM:614959] synonym: "epileptic encephalopathy, early infantile, type 14" EXACT [MONDORULE:2, OMIM:614959] synonym: "KCNT1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080439 {source="MONDO:equivalentTo"} xref: OMIM:614959 {source="MONDO:equivalentTo"} xref: UMLS:C3554195 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614959"} is_a: MONDO:0100062 {source="DC-OMIM:614959", source="MONDO:Redundant", source="OMIM:614959"} ! developmental and epileptic encephalopathy property_value: exactMatch DOID:0080439 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554195 property_value: exactMatch https://omim.org/entry/614959 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013990 name: pontocerebellar hypoplasia type 8 def: "A novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum." [Orphanet:324569] subset: ordo_malformation_syndrome {source="Orphanet:324569"} synonym: "CHMP1A non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in CHMP1A" EXACT [MONDO:design_pattern] synonym: "PCH8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614961, Orphanet:324569] synonym: "pontocerebellar hypoplasia due to CHMP1A mutation" EXACT [Orphanet:324569] synonym: "pontocerebellar hypoplasia type 8" EXACT [] synonym: "pontocerebellar hypoplasia, type 8" RELATED [MONDO:Lexical, OMIM:614961] xref: DOID:0060277 {source="MONDO:equivalentTo"} xref: OMIM:614961 {source="DOID:0060277", source="Orphanet:324569", source="MONDO:equivalentTo", source="Orphanet:324569/e"} xref: Orphanet:324569 {source="DOID:0060277", source="OMIM:614961", source="MONDO:equivalentTo"} xref: SCTID:718611007 {source="MONDO:equivalentTo"} xref: UMLS:C3554209 {source="OMIM:614961", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0020135 {source="DC-OMIM:614961", source="DOID:0060277", source="MONDO:Redundant", source="OMIM:614961", source="Orphanet:324569"} ! pontocerebellar hypoplasia property_value: exactMatch DOID:0060277 property_value: exactMatch http://identifiers.org/snomedct/718611007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554209 property_value: exactMatch https://omim.org/entry/614961 property_value: exactMatch Orphanet:324569 [Term] id: MONDO:0013991 name: obesity due to congenital leptin deficiency def: "Congenital leptin deficiency is a form of monogenic obesity characterized by severe early-onset obesity and marked hyperphagia." [Orphanet:66628] subset: gard_rare {source="GARD:0013015"} subset: ordo_disease {source="Orphanet:66628"} synonym: "LEPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614962] synonym: "leptin deficiency or dysfunction" RELATED [GARD:0013015, MONDO:Lexical, OMIM:614962] synonym: "obesity, morbid, due to leptin deficiency" EXACT [OMIM:614962, OMIM:genemap2] synonym: "obesity, morbid, nonsyndromic 1" RELATED [OMIM:614962] xref: DOID:0111334 {source="MONDO:equivalentTo"} xref: OMIM:614962 {source="MONDO:equivalentTo", source="Orphanet:66628", source="Orphanet:66628/e"} xref: Orphanet:66628 {source="OMIM:614962", source="MONDO:equivalentTo"} xref: UMLS:C3554224 {source="OMIM:614962", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0016553 ! isolated congenital hypogonadotropic hypogonadism is_a: MONDO:0020075 {source="Orphanet:66628"} ! hereditary non-syndromic obesity property_value: exactMatch DOID:0111334 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554224 property_value: exactMatch https://omim.org/entry/614962 property_value: exactMatch Orphanet:66628 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13015/obesity-due-to-congenital-leptin-deficiency xsd:anyURI {source="GARD:0013015"} [Term] id: MONDO:0013992 name: obesity due to leptin receptor gene deficiency subset: ordo_disease {source="Orphanet:179494"} synonym: "leptin receptor deficiency" RELATED [OMIM:614963] synonym: "obesity due to leptin receptor gene deficiency" EXACT [] synonym: "obesity, morbid, due to leptin receptor deficiency" EXACT [OMIM:614963, OMIM:genemap2] synonym: "obesity, morbid, nonsyndromic 2" RELATED [OMIM:614963] xref: NCIT:C120386 {source="MONDO:equivalentTo"} xref: OMIM:614963 {source="Orphanet:179494/e", source="MONDO:equivalentTo", source="Orphanet:179494"} xref: Orphanet:179494 {source="OMIM:614963", source="MONDO:equivalentTo"} xref: UMLS:C3554225 {source="OMIM:614963", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0016553 ! isolated congenital hypogonadotropic hypogonadism is_a: MONDO:0020075 ! hereditary non-syndromic obesity property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554225 property_value: exactMatch https://omim.org/entry/614963 property_value: exactMatch NCIT:C120386 property_value: exactMatch Orphanet:179494 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0013993 name: pontocerebellar hypoplasia type 7 def: "Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype." [Orphanet:284339] subset: ordo_malformation_syndrome {source="Orphanet:284339"} synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in TOE1" EXACT [MONDO:design_pattern] synonym: "PCH7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614969, Orphanet:284339] synonym: "pontocerebellar hypoplasia, type 7" RELATED [MONDO:Lexical, OMIM:614969] synonym: "pontocerebellar hypoplasia-46,XY disorder of sex development syndrome" EXACT [Orphanet:284339] synonym: "TOE1 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060276 {source="MONDO:equivalentTo"} xref: OMIM:614969 {source="Orphanet:284339/e", source="DOID:0060276", source="MONDO:equivalentTo", source="Orphanet:284339"} xref: Orphanet:284339 {source="DOID:0060276", source="MONDO:equivalentTo", source="OMIM:614969"} xref: SCTID:718605009 {source="MONDO:equivalentTo"} xref: UMLS:C3554226 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614969"} is_a: MONDO:0020135 {source="DC-OMIM:614969", source="DOID:0060276", source="MONDO:Redundant", source="OMIM:614969", source="Orphanet:284339"} ! pontocerebellar hypoplasia property_value: exactMatch DOID:0060276 property_value: exactMatch http://identifiers.org/snomedct/718605009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554226 property_value: exactMatch https://omim.org/entry/614969 property_value: exactMatch Orphanet:284339 [Term] id: MONDO:0013996 name: focal facial dermal dysplasia type II def: "Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities." [Orphanet:398173] subset: ordo_clinical_subtype {source="Orphanet:398173"} synonym: "Brauer-Setleis syndrome" RELATED [OMIM:614973] synonym: "FFDD type II" EXACT [Orphanet:398173] synonym: "FFDD2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614973, Orphanet:398173] synonym: "focal facial dermal dysplasia 2, Brauer-Setleis type" EXACT [MONDO:Lexical, OMIM:614973, Orphanet:398173] xref: OMIM:614973 {source="Orphanet:398173/e", source="MONDO:equivalentTo", source="Orphanet:398173"} xref: Orphanet:398173 {source="OMIM:614973", source="MONDO:equivalentTo"} xref: UMLS:C3554245 {source="OMIM:614973", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0009203 ! focal facial dermal dysplasia type III property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554245 property_value: exactMatch https://omim.org/entry/614973 property_value: exactMatch Orphanet:398173 [Term] id: MONDO:0013997 name: focal facial dermal dysplasia type IV def: "Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions." [Orphanet:398189] subset: ordo_clinical_subtype {source="Orphanet:398189"} synonym: "FFDD type IV" EXACT [Orphanet:398189] synonym: "FFDD4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614974, Orphanet:398189] synonym: "focal facial dermal dysplasia 4" EXACT [MONDO:Lexical, OMIM:614974, Orphanet:398189] synonym: "focal Facial dermal dysplasia type 4" EXACT [MONDORULE:1, OMIM:614974] synonym: "focal facial preauricular dysplasia" EXACT [Orphanet:398189] xref: OMIM:614974 {source="Orphanet:398189", source="MONDO:equivalentTo", source="Orphanet:398189/e"} xref: Orphanet:398189 {source="OMIM:614974", source="MONDO:equivalentTo"} xref: UMLS:C3554246 {source="OMIM:614974", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018363 {source="DC-OMIM:614974", source="OMIM:614974", source="Orphanet:398189"} ! focal facial dermal dysplasia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554246 property_value: exactMatch https://omim.org/entry/614974 property_value: exactMatch Orphanet:398189 [Term] id: MONDO:0013999 name: optic nerve edema-splenomegaly syndrome def: "Optic nerve edema-splenomegaly syndrome is a rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches." [Orphanet:313800] subset: ordo_disease {source="Orphanet:313800"} synonym: "ROSAH syndrome" EXACT [OMIM:614979, OMIM:genemap2] synonym: "splenomegaly, cytopenia, and vision loss" RELATED [OMIM:614979] xref: OMIM:614979 {source="Orphanet:313800", source="MONDO:equivalentTo", source="Orphanet:313800/e"} xref: Orphanet:313800 {source="MONDO:equivalentTo", source="OMIM:614979"} xref: UMLS:C3554278 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614979"} is_a: MONDO:0020249 {source="Orphanet:313800"} ! hereditary optic neuropathy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554278 property_value: exactMatch https://omim.org/entry/614979 property_value: exactMatch Orphanet:313800 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0014002 name: autosomal dominant nocturnal frontal lobe epilepsy 5 def: "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the KCNT1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in KCNT1" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nocturnal frontal lobe epilepsy type 5" EXACT [DOID:0060686, MONDORULE:1] synonym: "ENFL5" EXACT ABBREVIATION [DOID:0060686, MONDO:Lexical, OMIM:615005] synonym: "epilepsy nocturnal frontal lobe, 5" EXACT [OMIM:615005, OMIM:genemap2] synonym: "epilepsy, nocturnal frontal lobe, 5" RELATED [MONDO:Lexical, OMIM:615005] synonym: "epilepsy, nocturnal frontal lobe, type 5" EXACT [MONDORULE:1, OMIM:615005] synonym: "KCNT1 autosomal dominant nocturnal frontal lobe epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "nocturnal frontal lobe epilepsy 5" EXACT [DOID:0060686] xref: DOID:0060686 {source="MONDO:equivalentTo"} xref: OMIM:615005 {source="DOID:0060686", source="MONDO:equivalentTo"} xref: UMLS:C3554306 {source="OMIM:615005", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000030 {source="DC-OMIM:615005", source="OMIM:615005"} ! sleep-related hypermotor epilepsy is_a: MONDO:0020300 {source="DOID:0060686", source="MONDO:Redundant"} ! autosomal dominant nocturnal frontal lobe epilepsy property_value: exactMatch DOID:0060686 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554306 property_value: exactMatch https://omim.org/entry/615005 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0014005 name: immunoglobulin-mediated membranoproliferative glomerulonephritis def: "Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation." [NCIT:C123055] subset: ordo_clinical_subtype {source="Orphanet:329903"} subset: predisposition synonym: "Ahus, susceptibility to, 7" RELATED [OMIM:615008] synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 7" RELATED [OMIM:615008] synonym: "Ig-mediated membranoproliferative glomerulonephritis" EXACT [Orphanet:329903] synonym: "Ig-mediated MPGN" EXACT [Orphanet:329903] synonym: "immune Complex mediated membranoproliferative glomerulonephritis" EXACT [NCIT:C123055] synonym: "immunoglobulin-mediated membranoproliferative glomerulonephritis" EXACT [] synonym: "Immunoglobulin-mediated MPGN" EXACT [Orphanet:329903] synonym: "membranoproliferative glomerulonephritis type I" EXACT [NCIT:C123055] synonym: "Mesangiocapillary glomerulonephritis type 1" EXACT [NCIT:C123055] synonym: "nephrotic syndrome, type 7" RELATED [MONDO:Lexical, OMIM:615008] synonym: "nephrotic syndrome, type 7, with membranoproliferative glomerulonephritis" RELATED [OMIM:615008] synonym: "NPHS7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615008] xref: NCIT:C123055 {source="MONDO:equivalentTo"} xref: OMIM:615008 {source="Orphanet:329903", source="MONDO:equivalentTo", source="Orphanet:329903/e"} xref: Orphanet:329903 {source="OMIM:615008", source="MONDO:equivalentTo"} is_a: EFO:0004128 ! hereditary nephritis is_a: MONDO:0002350 {source="OMIM:615008"} ! familial nephrotic syndrome is_a: MONDO:0018904 {source="NCIT:C123055", source="Orphanet:329903"} ! primary membranoproliferative glomerulonephritis property_value: exactMatch https://omim.org/entry/615008 property_value: exactMatch NCIT:C123055 property_value: exactMatch Orphanet:329903 property_value: excluded_subClassOf MONDO:0016244 {source="Orphanet:2134/btnt"} [Term] id: MONDO:0014006 name: Schuurs-Hoeijmakers syndrome def: "Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed." [Orphanet:329224] subset: ordo_malformation_syndrome {source="Orphanet:329224"} synonym: "autosomal dominant intellectual disability 17" EXACT [DOID:0070047] synonym: "autosomal dominant intellectual disability-17" RELATED [GARD:0013043] synonym: "autosomal dominant mental retardation 17" EXACT DEPRECATED [DOID:0070047] synonym: "intellectual disability, autosomal dominant 17" RELATED [MONDO:Lexical, OMIM:615009] synonym: "intellectual disability, autosomal dominant type 17" EXACT [MONDORULE:2, OMIM:615009] synonym: "intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome" EXACT [https://github.com/monarch-initiative/mondo/issues/1443, PMID:23159249, PMID:25522177, PMID:26842493, PMID:28111752, PMID:28975623, PMID:30113927] synonym: "mental retardation, autosomal dominant 17" RELATED DEPRECATED [MONDO:Lexical, OMIM:615009] synonym: "mental retardation, autosomal dominant type 17" EXACT DEPRECATED [MONDORULE:2, OMIM:615009] synonym: "MRD17" EXACT ABBREVIATION [DOID:0070047, MONDO:Lexical, OMIM:615009] synonym: "PACS1-related syndrome" RELATED [GARD:0013043] synonym: "Schuurs-Hoeijmakers syndrome" EXACT [OMIM:615009] synonym: "SHMS" EXACT ABBREVIATION [DOID:0070047] xref: DOID:0070047 {source="MONDO:equivalentTo"} xref: NCIT:C150555 {source="MONDO:equivalentTo"} xref: OMIM:615009 {source="Orphanet:329224/e", source="DOID:0070047", source="MONDO:equivalentTo", source="Orphanet:329224"} xref: Orphanet:329224 {source="MONDO:equivalentTo", source="OMIM:615009"} xref: UMLS:C3554343 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615009"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:329224", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:329224"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0100172 ! intellectual disability, autosomal dominant property_value: exactMatch DOID:0070047 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554343 property_value: exactMatch https://omim.org/entry/615009 property_value: exactMatch NCIT:C150555 property_value: exactMatch Orphanet:329224 property_value: excluded_subClassOf MONDO:0015802 {source="DOID:0070047"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0014008 name: phosphohydroxylysinuria synonym: "PHLU" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615011] synonym: "PHOSPHOHYDROXYLYSINURIA" RELATED ABBREVIATION [OMIM:615011] synonym: "Phosphohydroxylysinuria" EXACT [MONDO:Lexical, OMIM:615011] synonym: "phosphohydroxylysinuria" EXACT [OMIM:615011, OMIM:genemap2] xref: OMIM:615011 {source="MONDO:equivalentTo"} xref: UMLS:C3554344 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615011"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554344 property_value: exactMatch https://omim.org/entry/615011 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0014012 name: Charcot-Marie-Tooth disease axonal type 2Q def: "Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment." [Orphanet:329258] subset: ordo_disease {source="Orphanet:329258"} synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q" EXACT [DOID:0110170] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2Q" EXACT [DOID:0110170] synonym: "Charcot-Marie-Tooth disease caused by mutation in DHTKD1" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease type 2Q" RELATED [GARD:0012446] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Q" RELATED [OMIM:615025] synonym: "Charcot-Marie-Tooth disease, axonal, type 2Q" RELATED [MONDO:Lexical, OMIM:615025] synonym: "Charcot-Marie-Tooth neuropathy type 2Q" EXACT [DOID:0110170] synonym: "Charcot-Marie-Tooth neuropathy, type 2Q" RELATED [OMIM:615025] synonym: "CMT2Q" EXACT ABBREVIATION [DOID:0110170, MONDO:Lexical, OMIM:615025, Orphanet:329258] synonym: "DHTKD1 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110170 {source="MONDO:equivalentTo"} xref: OMIM:615025 {source="Orphanet:329258/e", source="DOID:0110170", source="MONDO:equivalentTo", source="Orphanet:329258"} xref: Orphanet:329258 {source="OMIM:615025", source="DOID:0110170", source="MONDO:equivalentTo"} xref: UMLS:C3554366 {source="OMIM:615025", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018993 {source="DOID:0110170", source="Orphanet:329258"} ! Charcot-Marie-Tooth disease type 2 property_value: exactMatch DOID:0110170 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554366 property_value: exactMatch https://omim.org/entry/615025 property_value: exactMatch Orphanet:329258 [Term] id: MONDO:0014013 name: maternal riboflavin deficiency subset: ordo_disease {source="Orphanet:411712"} synonym: "maternal riboflavin deficiency" EXACT [] synonym: "RBFVD" BROAD ABBREVIATION [MONDO:Lexical, OMIM:615026] synonym: "riboflavin deficiency" BROAD [MONDO:Lexical, OMIM:615026] xref: Orphanet:411712 {source="OMIM:615026", source="MONDO:equivalentTo"} is_a: MONDO:0004573 {source="https://orcid.org/0000-0002-4142-7153"} ! ariboflavinosis is_a: MONDO:0017760 {source="Orphanet:411712"} ! disorder of other vitamins and cofactors metabolism and transport property_value: exactMatch Orphanet:411712 [Term] id: MONDO:0014015 name: hereditary spastic paraplegia 56 def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the CYP2U1 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:320411"} synonym: "autosomal recessive spastic paraplegia 56" EXACT [DOID:0110808] synonym: "autosomal recessive spastic paraplegia type 56" EXACT [DOID:0110808] synonym: "CYP2U1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary spastic paraplegia caused by mutation in CYP2U1" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 56" EXACT [DOID:0110808, MONDORULE:2] synonym: "spastic paraplegia 56, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615030] synonym: "SPG56" EXACT ABBREVIATION [DOID:0110808, MONDO:Lexical, OMIM:615030, Orphanet:320411] xref: DOID:0110808 {source="MONDO:equivalentTo"} xref: OMIM:615030 {source="Orphanet:320411", source="MONDO:equivalentTo", source="DOID:0110808", source="Orphanet:320411/e"} xref: Orphanet:320411 {source="MONDO:equivalentTo", source="DOID:0110808", source="OMIM:615030"} xref: UMLS:C3539507 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615030"} is_a: MONDO:0017915 {source="Orphanet:320411"} ! pure or complex autosomal recessive spastic paraplegia property_value: exactMatch DOID:0110808 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3539507 property_value: exactMatch https://omim.org/entry/615030 property_value: exactMatch Orphanet:320411 [Term] id: MONDO:0014016 name: hereditary spastic paraplegia 49 def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the TECPR2 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:320385"} synonym: "autosomal recessive spastic paraplegia 49" EXACT [DOID:0110801] synonym: "autosomal recessive spastic paraplegia type 49" EXACT [DOID:0110801] synonym: "hereditary spastic paraplegia 49" EXACT [] synonym: "hereditary spastic paraplegia caused by mutation in TECPR2" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 49" EXACT [DOID:0110801, MONDORULE:2] synonym: "neuropathy, hereditary sensory and autonomic, type IX, with developmental delay" EXACT [OMIM:615031, OMIM:genemap2] synonym: "spastic paraplegia 49, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615031] synonym: "SPG49" EXACT ABBREVIATION [DOID:0110801, MONDO:Lexical, OMIM:615031, Orphanet:320385] synonym: "TECPR2 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110801 {source="MONDO:equivalentTo"} xref: OMIM:615031 {source="Orphanet:320385", source="DOID:0110801", source="MONDO:equivalentTo", source="Orphanet:320385/e"} xref: Orphanet:320385 {source="DOID:0110801", source="MONDO:equivalentTo", source="OMIM:615031"} xref: UMLS:C3542549 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615031"} is_a: MONDO:0015089 {source="Orphanet:320385"} ! autosomal recessive complex spastic paraplegia property_value: exactMatch DOID:0110801 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3542549 property_value: exactMatch https://omim.org/entry/615031 property_value: exactMatch Orphanet:320385 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0014018 name: hereditary spastic paraplegia 54 def: "A rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2." [Orphanet:320380] subset: ordo_disease {source="Orphanet:320380"} synonym: "autosomal recessive complex spastic paraplegia caused by mutation in DDHD2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 54" EXACT [DOID:0110806] synonym: "autosomal recessive spastic paraplegia type 54" EXACT [DOID:0110806] synonym: "DDHD2 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary spastic paraplegia type 54" EXACT [DOID:0110806, MONDORULE:2] synonym: "spastic paraplegia 54, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615033] synonym: "SPG54" EXACT ABBREVIATION [DOID:0110806, MONDO:Lexical, OMIM:615033, Orphanet:320380] xref: DOID:0110806 {source="MONDO:equivalentTo"} xref: OMIM:615033 {source="Orphanet:320380/e", source="MONDO:equivalentTo", source="DOID:0110806", source="Orphanet:320380"} xref: Orphanet:320380 {source="MONDO:equivalentTo", source="DOID:0110806", source="OMIM:615033"} xref: SCTID:723824005 {source="MONDO:equivalentTo"} xref: UMLS:C3539495 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615033"} xref: UMLS:C4510083 {source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="MONDO:Redundant", source="Orphanet:320380"} ! autosomal recessive complex spastic paraplegia property_value: exactMatch DOID:0110806 property_value: exactMatch http://identifiers.org/snomedct/723824005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3539495 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510083 property_value: exactMatch https://omim.org/entry/615033 property_value: exactMatch Orphanet:320380 [Term] id: MONDO:0014020 name: hereditary spastic paraplegia 55 subset: ordo_disease {source="Orphanet:320375"} synonym: "autosomal recessive spastic paraplegia 55" EXACT [DOID:0110807] synonym: "autosomal recessive spastic paraplegia type 55" EXACT [DOID:0110807] synonym: "hereditary spastic paraplegia type 55" EXACT [DOID:0110807, MONDORULE:2] synonym: "spastic paraplegia 55, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615035] synonym: "SPG55" EXACT ABBREVIATION [DOID:0110807, MONDO:Lexical, OMIM:615035, Orphanet:320375] xref: DOID:0110807 {source="MONDO:equivalentTo"} xref: OMIM:615035 {source="Orphanet:320375", source="MONDO:equivalentTo", source="Orphanet:320375/e", source="DOID:0110807"} xref: Orphanet:320375 {source="MONDO:equivalentTo", source="DOID:0110807", source="OMIM:615035"} xref: SCTID:723825006 {source="MONDO:equivalentTo"} xref: UMLS:C3539506 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615035"} xref: UMLS:C4510214 {source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:320375", source="Orphanet:320375/inferred"} ! autosomal recessive complex spastic paraplegia is_a: MONDO:0044655 ! c12orf65-related combined oxidative phosphorylation defect property_value: exactMatch DOID:0110807 property_value: exactMatch http://identifiers.org/snomedct/723825006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3539506 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510214 property_value: exactMatch https://omim.org/entry/615035 property_value: exactMatch Orphanet:320375 [Term] id: MONDO:0014021 name: familial episodic pain syndrome with predominantly upper body involvement subset: ordo_clinical_subtype {source="Orphanet:391389"} synonym: "episodic pain syndrome, familial, 1" RELATED [MONDO:Lexical, OMIM:615040] synonym: "episodic pain syndrome, familial, type 1" EXACT [MONDORULE:1, OMIM:615040] synonym: "FEPS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615040] xref: DOID:0111729 {source="MONDO:equivalentTo"} xref: OMIM:615040 {source="Orphanet:391389/e", source="MONDO:equivalentTo", source="Orphanet:391389"} xref: Orphanet:391389 {source="MONDO:equivalentTo", source="OMIM:615040"} xref: UMLS:C3808667 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615040"} xref: UMLS:CN204968 {source="MONDO:equivalentTo"} is_a: MONDO:0018319 {source="OMIM:615040", source="Orphanet:391389"} ! familial episodic pain syndrome property_value: exactMatch DOID:0111729 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808667 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204968 property_value: exactMatch https://omim.org/entry/615040 property_value: exactMatch Orphanet:391389 [Term] id: MONDO:0014022 name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 def: "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the RXYLT1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "MDDGA10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615041] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10" RELATED [OMIM:615041] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10" EXACT [MONDO:Lexical, OMIM:615041] synonym: "muscular dystrophy-dystroglycanopathy, type A caused by mutation in RXYLT1" EXACT [MONDO:design_pattern] synonym: "RXYLT1 muscular dystrophy-dystroglycanopathy, type A" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, Tmem5-related" RELATED [OMIM:615041] xref: DOID:0111239 {source="MONDO:equivalentTo"} xref: OMIM:615041 {source="MONDO:equivalentTo"} xref: Orphanet:899 {source="MONDO:relatedTo", source="OMIM:615041"} xref: UMLS:C3554381 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615041"} is_a: MONDO:0000171 {source="MONDO:Redundant", source="OMIM:615041", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A is_a: MONDO:0018939 {source="https://www.clinicalgenome.org/affiliation/40020/"} ! muscle-eye-brain disease property_value: exactMatch DOID:0111239 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554381 property_value: exactMatch https://omim.org/entry/615041 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6272 xsd:anyURI [Term] id: MONDO:0014023 name: congenital muscular dystrophy with intellectual disability and severe epilepsy subset: ordo_disease {source="Orphanet:329178"} synonym: "carbohydrate deficient glycoprotein syndrome type Iu" EXACT [Orphanet:329178] synonym: "CDG Iu" RELATED [OMIM:615042] synonym: "CDG syndrome type Iu" EXACT [Orphanet:329178] synonym: "CDG-Iu" EXACT [Orphanet:329178] synonym: "CDG1U" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615042, Orphanet:329178] synonym: "CMD with intellectual disability and severe epilepsy" EXACT [Orphanet:329178] synonym: "congenital disorder of glycosylation type 1u" EXACT [Orphanet:329178] synonym: "congenital disorder of glycosylation type Iu" EXACT [Orphanet:329178] synonym: "congenital disorder of glycosylation, type Iu" RELATED [MONDO:Lexical, OMIM:615042] synonym: "DPM2-CDG" EXACT [Orphanet:329178] xref: DOID:0080571 {source="MONDO:equivalentTo"} xref: OMIM:615042 {source="Orphanet:329178/e", source="MONDO:equivalentTo", source="Orphanet:329178"} xref: Orphanet:329178 {source="MONDO:equivalentTo", source="OMIM:615042"} xref: UMLS:C3554385 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615042"} is_a: EFO:0005545 {source="DC-OMIM:615042"} ! congenital disorder of glycosylation type I is_a: MONDO:0017749 {source="Orphanet:329178"} ! disorder of multiple glycosylation is_a: MONDO:0018276 {source="Orphanet:329178"} ! muscular dystrophy-dystroglycanopathy relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch DOID:0080571 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554385 property_value: exactMatch https://omim.org/entry/615042 property_value: exactMatch Orphanet:329178 [Term] id: MONDO:0014024 name: hereditary spastic paraplegia 43 def: "Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported." [Orphanet:320370] subset: ordo_disease {source="Orphanet:320370"} synonym: "autosomal recessive complex spastic paraplegia caused by mutation in C19orf12" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 43" EXACT [DOID:0110795] synonym: "autosomal recessive spastic paraplegia type 43" EXACT [DOID:0110795] synonym: "C19orf12 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary spastic paraplegia type 43" EXACT [DOID:0110795, MONDORULE:2] synonym: "spastic paraplegia 43, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615043] synonym: "SPG43" EXACT ABBREVIATION [DOID:0110795, MONDO:Lexical, OMIM:615043, Orphanet:320370] xref: DOID:0110795 {source="MONDO:equivalentTo"} xref: OMIM:615043 {source="Orphanet:320370/e", source="MONDO:equivalentTo", source="Orphanet:320370", source="DOID:0110795"} xref: Orphanet:320370 {source="MONDO:equivalentTo", source="OMIM:615043", source="DOID:0110795"} xref: SCTID:764736001 {source="MONDO:equivalentTo"} xref: UMLS:C2680446 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615043"} is_a: MONDO:0015089 {source="MONDO:Redundant", source="Orphanet:320370"} ! autosomal recessive complex spastic paraplegia property_value: exactMatch DOID:0110795 property_value: exactMatch http://identifiers.org/snomedct/764736001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2680446 property_value: exactMatch https://omim.org/entry/615043 property_value: exactMatch Orphanet:320370 [Term] id: MONDO:0014025 name: lower motor neuron syndrome with late-adult onset subset: ordo_disease {source="Orphanet:276435"} synonym: "SMAJ" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615048] synonym: "spinal muscular atrophy, Jokela type" RELATED [MONDO:Lexical, OMIM:615048] xref: DOID:0081356 {source="MONDO:equivalentTo"} xref: OMIM:615048 {source="MONDO:equivalentTo", source="Orphanet:276435", source="Orphanet:276435/e"} xref: Orphanet:276435 {source="OMIM:615048", source="MONDO:equivalentTo"} xref: UMLS:C3554398 {source="OMIM:615048", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0016224 {source="Orphanet:276435"} ! autosomal dominant proximal spinal muscular atrophy property_value: exactMatch DOID:0081356 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554398 property_value: exactMatch https://omim.org/entry/615048 property_value: exactMatch Orphanet:276435 [Term] id: MONDO:0014028 name: distal arthrogryposis type 5D def: "Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature." [Orphanet:329457] subset: gard_rare {source="GARD:0013059"} subset: ordo_disease {source="Orphanet:329457"} synonym: "arthrogryposis, distal, type 5D" RELATED [MONDO:Lexical, OMIM:615065] synonym: "DA5D" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615065, Orphanet:329457] synonym: "distal arthrogryposis caused by mutation in ECEL1" EXACT [MONDO:design_pattern] synonym: "distal arthrogryposis type 5 without ophthalmoparesis" EXACT [Orphanet:329457] synonym: "distal arthrogryposis type 5 without ophthalmoplegia" EXACT [Orphanet:329457] synonym: "ECEL1 distal arthrogryposis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111594 {source="MONDO:equivalentTo"} xref: OMIM:615065 {source="Orphanet:329457/e", source="MONDO:equivalentTo", source="Orphanet:329457"} xref: Orphanet:329457 {source="MONDO:equivalentTo", source="OMIM:615065"} xref: UMLS:C3554415 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615065"} is_a: MONDO:0019942 {source="DC-OMIM:615065", source="MONDO:Redundant", source="Orphanet:329457"} ! distal arthrogryposis property_value: exactMatch DOID:0111594 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554415 property_value: exactMatch https://omim.org/entry/615065 property_value: exactMatch Orphanet:329457 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13059/distal-arthrogryposis-type-5d xsd:anyURI {source="GARD:0013059"} [Term] id: MONDO:0014031 name: microcephalic primordial dwarfism, Alazami type def: "Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety." [Orphanet:319671] subset: ordo_malformation_syndrome {source="Orphanet:319671"} synonym: "Alazami syndrome" EXACT [MONDO:Lexical, OMIM:615071, Orphanet:319671] synonym: "ALAZS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615071] synonym: "facial dysmorphism, intellectual disability, and primordial dwarfism" RELATED [OMIM:615071] xref: OMIM:615071 {source="MONDO:equivalentTo", source="Orphanet:319671", source="Orphanet:319671/e"} xref: Orphanet:319671 {source="MONDO:equivalentTo", source="OMIM:615071"} xref: UMLS:C3554439 {source="MONDO:equivalentTo", source="OMIM:615071", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0017950 {source="Orphanet:319671"} ! microcephalic primordial dwarfism property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554439 property_value: exactMatch https://omim.org/entry/615071 property_value: exactMatch Orphanet:319671 [Term] id: MONDO:0014033 name: dystonia 25 def: "Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia, characterized by cervical, laryngeal and hand-forearm dystonia." [Orphanet:329466] subset: ordo_disease {source="Orphanet:329466"} synonym: "autosomal dominant focal dystonia, DYT25 type" RELATED [Orphanet:329466] synonym: "dystonia 25" EXACT [MONDO:Lexical, OMIM:615073] synonym: "dystonia type 25" EXACT [DOID:0090055, MONDORULE:2, OMIM:615073] synonym: "dystonic disorder caused by mutation in GNAL" EXACT [MONDO:design_pattern] synonym: "DYT25" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615073] synonym: "GNAL dystonic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090055 {source="MONDO:equivalentTo"} xref: OMIM:615073 {source="Orphanet:329466/e", source="DOID:0090055", source="MONDO:equivalentTo", source="Orphanet:329466"} xref: Orphanet:329466 {source="DOID:0090055", source="MONDO:equivalentTo", source="OMIM:615073"} xref: UMLS:C3554447 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615073"} is_a: MONDO:0000478 {source="DOID:0090055"} ! multifocal dystonia is_a: MONDO:0015990 {source="Orphanet:329466"} ! focal, segmental or multifocal dystonia property_value: exactMatch DOID:0090055 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554447 property_value: exactMatch https://omim.org/entry/615073 property_value: exactMatch Orphanet:329466 [Term] id: MONDO:0014034 name: severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome def: "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3." [DOID:0070048] subset: ordo_disease {source="Orphanet:363686"} synonym: "autosomal dominant intellectual disability 18" EXACT [DOID:0070048] synonym: "autosomal dominant mental retardation 18" EXACT DEPRECATED [DOID:0070048] synonym: "autosomal dominant non-syndromic intellectual disability 18" RELATED [DOID:0070048] synonym: "GAND syndrome" EXACT [OMIM:615074, OMIM:genemap2] synonym: "GATAD2B-associated neurodevelopmental disorder" RELATED [GARD:0012815] synonym: "intellectual disability, autosomal dominant 18" RELATED [MONDO:Lexical, OMIM:615074] synonym: "intellectual disability, autosomal dominant type 18" EXACT [MONDORULE:2, OMIM:615074] synonym: "mental retardation, autosomal dominant 18" RELATED DEPRECATED [MONDO:Lexical, OMIM:615074] synonym: "mental retardation, autosomal dominant type 18" EXACT DEPRECATED [MONDORULE:2, OMIM:615074] synonym: "MRD18" EXACT ABBREVIATION [DOID:0070048, MONDO:Lexical, OMIM:615074] synonym: "severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome" EXACT [] xref: DOID:0070048 {source="MONDO:equivalentTo"} xref: OMIM:615074 {source="MONDO:equivalentTo", source="DOID:0070048", source="Orphanet:363686", source="Orphanet:363686/e"} xref: Orphanet:363686 {source="MONDO:equivalentTo", source="OMIM:615074"} xref: UMLS:C3554448 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615074"} is_a: MONDO:0000508 {source="Orphanet:363686", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:363686"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0100172 ! intellectual disability, autosomal dominant property_value: exactMatch DOID:0070048 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554448 property_value: exactMatch https://omim.org/entry/615074 property_value: exactMatch Orphanet:363686 property_value: excluded_subClassOf MONDO:0015802 {source="DOID:0070048"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0014035 name: severe intellectual disability-progressive spastic diplegia syndrome def: "Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability. Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity ; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/3505/severe-intellectual-disability-progressive-spastic-diplegia-syndrome] subset: gard_rare {source="GARD:0003505"} subset: ordo_malformation_syndrome {source="Orphanet:404473"} synonym: "autosomal dominant intellectual disability 19" EXACT [DOID:0070049] synonym: "autosomal dominant mental retardation 19" EXACT DEPRECATED [DOID:0070049] synonym: "autosomal dominant non-syndromic intellectual disability 19" RELATED [DOID:0070049] synonym: "CTNNB1-related intellectual disability" RELATED [GARD:0003505] synonym: "intellectual disability, autosomal dominant 19" RELATED [GARD:0003505, MONDO:Lexical, OMIM:615075] synonym: "intellectual disability, autosomal dominant type 19" EXACT [MONDORULE:2, OMIM:615075] synonym: "mental retardation, autosomal dominant 19" RELATED DEPRECATED [MONDO:Lexical, OMIM:615075] synonym: "mental retardation, autosomal dominant type 19" EXACT DEPRECATED [MONDORULE:2, OMIM:615075] synonym: "MRD19" EXACT ABBREVIATION [DOID:0070049, MONDO:Lexical, OMIM:615075] synonym: "neurodevelopmental disorder with spastic diplegia and visual defects" EXACT [OMIM:615075, OMIM:genemap2] synonym: "severe intellectual disability-progressive spastic diplegia syndrome" EXACT [] xref: DOID:0070049 {source="MONDO:equivalentTo"} xref: ICD10CM:G11.4 {source="MONDO:relatedTo", source="Orphanet:404473/attributed", source="Orphanet:404473/ntbt", source="Orphanet:404473"} xref: OMIM:615075 {source="Orphanet:404473/e", source="DOID:0070049", source="MONDO:equivalentTo", source="Orphanet:404473"} xref: Orphanet:404473 {source="MONDO:equivalentTo", source="OMIM:615075"} xref: UMLS:C3554449 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615075"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:404473", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:404473"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0100172 ! intellectual disability, autosomal dominant property_value: exactMatch DOID:0070049 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554449 property_value: exactMatch https://omim.org/entry/615075 property_value: exactMatch Orphanet:404473 property_value: excluded_subClassOf MONDO:0015802 {source="DOID:0070049"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3505/severe-intellectual-disability-progressive-spastic-diplegia-syndrome xsd:anyURI {source="GARD:0003505"} [Term] id: MONDO:0014037 name: spermatogenic failure 11 def: "Any azoospermia in which the cause of the disease is a mutation in the KLHL10 gene." [MONDO:patterns/disease_series_by_gene] synonym: "azoospermia caused by mutation in KLHL10" EXACT [MONDO:design_pattern] synonym: "KLHL10 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "spermatogenic failure 11" EXACT [MONDO:Lexical, OMIM:615081] synonym: "spermatogenic failure type 11" EXACT [MONDORULE:2, OMIM:615081] synonym: "SPGF11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615081] xref: DOID:0070180 {source="MONDO:equivalentTo"} xref: OMIM:615081 {source="MONDO:equivalentTo"} xref: UMLS:C3554453 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615081"} is_a: EFO:0000279 {source="DC-OMIM:615081", source="MONDO:Redundant", source="OMIM:615081"} ! azoospermia is_a: MONDO:0018393 {source="Orphanet:399805/btnt"} ! male infertility with azoospermia or oligozoospermia due to single gene mutation property_value: exactMatch DOID:0070180 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554453 property_value: exactMatch https://omim.org/entry/615081 [Term] id: MONDO:0014039 name: mitochondrial DNA depletion syndrome 11 def: "Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported." [Orphanet:352447] subset: ordo_disease {source="Orphanet:352447"} synonym: "MGME1 mitochondrial DNA depletion syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "mitochondrial DNA depletion syndrome 11" EXACT [MONDO:Lexical, OMIM:615084] synonym: "mitochondrial DNA depletion syndrome caused by mutation in MGME1" EXACT [MONDO:design_pattern] synonym: "mitochondrial DNA depletion syndrome type 11" EXACT [DOID:0080129, MONDORULE:2, OMIM:615084] synonym: "mitochondrial DNA maintenance syndrome due to MGME1 deficiency" EXACT [Orphanet:352447] synonym: "mtDNA maintenance syndrome due to MGME1 deficiency" EXACT [Orphanet:352447] synonym: "MTDPS11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615084] synonym: "PEO-myopathy-emaciation syndrome" EXACT [Orphanet:352447] synonym: "progressive external ophthalmoplegia-myopathy-emaciation syndrome" RELATED [Orphanet:352447] xref: DOID:0080129 {source="MONDO:equivalentTo"} xref: OMIM:615084 {source="MONDO:equivalentTo", source="Orphanet:352447", source="DOID:0080129", source="Orphanet:352447/e"} xref: Orphanet:352447 {source="MONDO:equivalentTo", source="OMIM:615084"} xref: UMLS:C3554462 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615084"} is_a: MONDO:0018158 {source="DC-OMIM:615084", source="MONDO:Redundant", source="OMIM:615084"} ! mitochondrial DNA depletion syndrome property_value: exactMatch DOID:0080129 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554462 property_value: exactMatch https://omim.org/entry/615084 property_value: exactMatch Orphanet:352447 [Term] id: MONDO:0014043 name: microcephalic primordial dwarfism due to ZNF335 deficiency def: "Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." [Orphanet:329228] subset: ordo_malformation_syndrome {source="Orphanet:329228"} synonym: "MCPH10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615095] synonym: "microcephalic primordial dwarfism, Walsh type" EXACT [Orphanet:329228] synonym: "microcephaly 10, primary, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615095] synonym: "primary autosomal recessive microcephaly 10" RELATED [DOID:0070294] xref: DOID:0070294 {source="MONDO:equivalentTo"} xref: OMIM:615095 {source="Orphanet:329228", source="MONDO:equivalentTo", source="Orphanet:329228/e"} xref: Orphanet:329228 {source="MONDO:equivalentTo", source="OMIM:615095"} xref: SCTID:724141003 {source="MONDO:equivalentTo"} xref: UMLS:C3554499 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615095"} xref: UMLS:C4510378 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0016660 {source="DC-OMIM:615095", source="OMIM:615095"} ! autosomal recessive primary microcephaly is_a: MONDO:0017950 {source="Orphanet:329228"} ! microcephalic primordial dwarfism property_value: exactMatch DOID:0070294 property_value: exactMatch http://identifiers.org/snomedct/724141003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554499 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510378 property_value: exactMatch https://omim.org/entry/615095 property_value: exactMatch Orphanet:329228 [Term] id: MONDO:0014044 name: dysmorphism-conductive hearing loss-heart defect syndrome def: "A syndrome characterized by distinctive facial features, cleft palate, conductive hearing loss, and mild developmental delay. The craniofacial dysmorphism included low frontal hairline, ptosis, prominent eyes, flat midface, Cupid's bow configuration of the upper lip, and low-set, posteriorly rotated small ears." [OMIM:615102] subset: ordo_malformation_syndrome {source="Orphanet:289553"} synonym: "TYSHCHENKO syndrome" RELATED [OMIM:615102] xref: OMIM:615102 {source="Orphanet:289553", source="MONDO:equivalentTo", source="Orphanet:289553/e"} xref: Orphanet:289553 {source="OMIM:615102", source="MONDO:equivalentTo"} xref: SCTID:763279007 {source="MONDO:equivalentTo"} xref: UMLS:C3554774 {source="OMIM:615102", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015160 {source="Orphanet:289553"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/snomedct/763279007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554774 property_value: exactMatch https://omim.org/entry/615102 property_value: exactMatch Orphanet:289553 [Term] id: MONDO:0014052 name: congenital myasthenic syndrome 8 def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the AGRN gene." [MONDO:patterns/disease_series_by_gene] synonym: "AGRN congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CMS8" EXACT ABBREVIATION [DOID:0110657, MONDO:Lexical, OMIM:615120] synonym: "congenital myasthenic syndrome 8" EXACT [] synonym: "congenital myasthenic syndrome 8 with pre- and postsynaptic defects" EXACT [DOID:0110657] synonym: "congenital myasthenic syndrome caused by mutation in AGRN" EXACT [MONDO:design_pattern] synonym: "congenital myasthenic syndrome due to agrin deficiency" EXACT [DOID:0110657] synonym: "congenital myasthenic syndrome type 8" EXACT [DOID:0110657, MONDORULE:1] synonym: "myasthenic syndrome, congenital, 8" RELATED [MONDO:Lexical, OMIM:615120] synonym: "myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects" EXACT [OMIM:615120, OMIM:genemap2] synonym: "myasthenic syndrome, congenital, due to agrin deficiency" RELATED [OMIM:615120] synonym: "myasthenic syndrome, congenital, type 8" EXACT [MONDORULE:1, OMIM:615120] synonym: "myasthenic syndrome, congenital, with Pre- and postsynaptic defects" RELATED [OMIM:615120] xref: DOID:0110657 {source="MONDO:equivalentTo"} xref: OMIM:615120 {source="DOID:0110657", source="MONDO:equivalentTo"} xref: UMLS:C3808739 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615120"} is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome is_a: MONDO:0020345 {source="Orphanet:98914/btnt"} ! presynaptic congenital myasthenic syndrome property_value: exactMatch DOID:0110657 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808739 property_value: exactMatch https://omim.org/entry/615120 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0014058 name: facial dysmorphism-immunodeficiency-livedo-short stature syndrome def: "A rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyzes show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer." [https://orcid.org/0000-0001-5208-3432, Orphanet:352712] subset: ordo_disease {source="Orphanet:352712"} synonym: "facial dysmorphism, immunodeficiency, livedo, and short stature" RELATED [MONDO:Lexical, OMIM:615139] synonym: "fils" RELATED [MONDO:Lexical, OMIM:615139] synonym: "fils syndrome" EXACT [Orphanet:352712] xref: OMIM:615139 {source="Orphanet:352712/e", source="MONDO:equivalentTo", source="Orphanet:352712"} xref: Orphanet:352712 {source="OMIM:615139", source="MONDO:equivalentTo"} xref: UMLS:C3554576 {source="OMIM:615139", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0000508 {source="OMIM:615139"} ! genetic disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554576 property_value: exactMatch https://omim.org/entry/615139 property_value: exactMatch Orphanet:352712 [Term] id: MONDO:0014060 name: progressive retinal dystrophy due to retinol transport defect subset: ordo_disease {source="Orphanet:352718"} synonym: "RDCCAS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615147] synonym: "retinal dystrophy, iris coloboma, and comedogenic acne syndrome" RELATED [MONDO:Lexical, OMIM:615147] synonym: "retinol dystrophy-iris coloboma-comedogenic acne syndrome" EXACT [Orphanet:352718] xref: ICD10CM:H35.5 {source="Orphanet:352718", source="Orphanet:352718/attributed", source="Orphanet:352718/ntbt", source="MONDO:directSiblingOf"} xref: OMIM:615147 {source="Orphanet:352718", source="MONDO:equivalentTo", source="Orphanet:352718/e"} xref: Orphanet:352718 {source="OMIM:615147", source="MONDO:equivalentTo"} xref: UMLS:C3554593 {source="OMIM:615147", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0017760 {source="Orphanet:352718"} ! disorder of other vitamins and cofactors metabolism and transport is_a: MONDO:0019118 {source="MONDO:Redundant", source="Orphanet:352718"} ! inherited retinal dystrophy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554593 property_value: exactMatch https://omim.org/entry/615147 property_value: exactMatch Orphanet:352718 [Term] id: MONDO:0014061 name: Steel syndrome def: "A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described." [Orphanet:438117] subset: ordo_disease {source="Orphanet:438117"} synonym: "bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome" EXACT [Orphanet:438117] synonym: "dislocated hips and radial heads, carpal coalition, scoliosis, and short stature" RELATED [OMIM:615155] synonym: "steel syndrome" EXACT [MONDO:Lexical, OMIM:615155] synonym: "STLS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615155] xref: OMIM:615155 {source="Orphanet:438117", source="MONDO:equivalentTo", source="Orphanet:438117/e"} xref: Orphanet:438117 {source="MONDO:equivalentTo"} xref: UMLS:C3554594 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615155"} is_a: MONDO:0016761 {source="PMID:31633310"} ! spondyloepiphyseal dysplasia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554594 property_value: exactMatch https://omim.org/entry/615155 property_value: exactMatch Orphanet:438117 property_value: excluded_subClassOf MONDO:0019705 {source="Orphanet:438117"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0014062 name: mitochondrial DNA deletion syndrome with progressive myopathy subset: ordo_disease {source="Orphanet:352470"} synonym: "mitochondrial DNA deletion syndrome with limb-girdle weakness" EXACT [Orphanet:352470] synonym: "mtDNA deletion syndrome with limb-girdle weakness" EXACT [Orphanet:352470] synonym: "mtDNA deletion syndrome with progressive myopathy" EXACT [Orphanet:352470] synonym: "PEOA6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615156] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6" RELATED [MONDO:Lexical, OMIM:615156] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 6" EXACT [MONDORULE:1, OMIM:615156] synonym: "progressive external ophthalmoplegia, autosomal dominant 6" RELATED [OMIM:615156] xref: DOID:0111519 {source="MONDO:equivalentTo"} xref: OMIM:615156 {source="Orphanet:352470/e", source="MONDO:equivalentTo", source="Orphanet:352470"} xref: Orphanet:352470 {source="MONDO:equivalentTo", source="OMIM:615156"} xref: UMLS:C3554599 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615156"} is_a: MONDO:0000090 {source="DC-OMIM:615156", source="OMIM:615156"} ! progressive external ophthalmoplegia with mitochondrial DNA deletions is_a: MONDO:0016797 {source="Orphanet:352470"} ! multiple mitochondrial DNA deletion syndrome property_value: exactMatch DOID:0111519 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554599 property_value: exactMatch https://omim.org/entry/615156 property_value: exactMatch Orphanet:352470 [Term] id: MONDO:0014067 name: short ulna-dysmorphism-hypotonia-intellectual disability syndrome subset: ordo_malformation_syndrome {source="Orphanet:357175"} synonym: "intellectual disability, autosomal recessive 35" RELATED [MONDO:Lexical, OMIM:615162] synonym: "mental retardation, autosomal recessive 35" RELATED DEPRECATED [MONDO:Lexical, OMIM:615162] synonym: "MRT35" RELATED DEPRECATED [MONDO:Lexical, OMIM:615162] xref: DOID:0081201 {source="MONDO:equivalentTo"} xref: OMIM:615162 {source="Orphanet:357175/e", source="MONDO:equivalentTo", source="Orphanet:357175"} xref: Orphanet:357175 {source="MONDO:equivalentTo", source="OMIM:615162"} xref: UMLS:C3554609 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615162"} is_a: MONDO:0015159 {source="Orphanet:357175"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch DOID:0081201 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554609 property_value: exactMatch https://omim.org/entry/615162 property_value: exactMatch Orphanet:357175 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:357175"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0014069 name: syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome subset: ordo_malformation_syndrome {source="Orphanet:357332"} synonym: "camptodactyly, clinodactyly, syndactyly, and bifid toe syndrome" RELATED [OMIM:615170] synonym: "Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome" EXACT [Orphanet:357332] synonym: "WAHAB syndrome" RELATED [OMIM:615170] synonym: "Wahab syndrome" EXACT [Orphanet:357332] xref: OMIM:615170 {source="Orphanet:357332/e", source="MONDO:equivalentTo", source="Orphanet:357332"} xref: Orphanet:357332 {source="MONDO:equivalentTo", source="OMIM:615170"} xref: UMLS:C3554611 {source="MONDO:equivalentTo", source="OMIM:615170", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019054 {source="Orphanet:357332"} ! congenital limb malformation property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554611 property_value: exactMatch https://omim.org/entry/615170 property_value: exactMatch Orphanet:357332 [Term] id: MONDO:0014070 name: oculocutaneous albinism type 7 def: "Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination." [Orphanet:352745] subset: ordo_disease {source="Orphanet:352745"} synonym: "albinism, oculocutaneous, type 7" RELATED [OMIM:615179] synonym: "albinism, oculocutaneous, type VII" RELATED [MONDO:Lexical, OMIM:615179] synonym: "LRMDA oculocutaneous albinism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "OCA7" EXACT ABBREVIATION [DOID:0070100, MONDO:Lexical, OMIM:615179, Orphanet:352745] synonym: "oculocutaneous albinism caused by mutation in LRMDA" EXACT [MONDO:design_pattern] synonym: "oculocutaneous albinism type VII" RELATED [DOID:0070100] xref: DOID:0070100 {source="MONDO:equivalentTo"} xref: OMIM:615179 {source="Orphanet:352745/e", source="DOID:0070100", source="MONDO:equivalentTo", source="Orphanet:352745"} xref: Orphanet:352745 {source="OMIM:615179", source="MONDO:equivalentTo"} xref: SCTID:722059002 {source="MONDO:equivalentTo"} xref: UMLS:C3808786 {source="OMIM:615179", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:CN204524 {source="MONDO:equivalentTo"} is_a: MONDO:0018910 {source="DC-OMIM:615179", source="DOID:0070100", source="MONDO:Redundant", source="OMIM:615179", source="Orphanet:352745"} ! oculocutaneous albinism property_value: exactMatch DOID:0070100 property_value: exactMatch http://identifiers.org/snomedct/722059002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808786 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204524 property_value: exactMatch https://omim.org/entry/615179 property_value: exactMatch Orphanet:352745 [Term] id: MONDO:0014071 name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 def: "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the B3GALNT2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "B3GALNT2 muscular dystrophy-dystroglycanopathy, type A" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "MDDGA11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615181] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11" RELATED [OMIM:615181] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11" EXACT [MONDO:Lexical, OMIM:615181] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11" EXACT [OMIM:615181, OMIM:genemap2] synonym: "muscular dystrophy-dystroglycanopathy, type A caused by mutation in B3GALNT2" EXACT [MONDO:design_pattern] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, B3Galnt2-related" RELATED [OMIM:615181] xref: DOID:0111230 {source="MONDO:equivalentTo"} xref: OMIM:615181 {source="MONDO:equivalentTo"} xref: Orphanet:899 {source="MONDO:relatedTo", source="OMIM:615181"} xref: UMLS:C3554638 {source="MONDO:equivalentTo", source="OMIM:615181", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000171 {source="MONDO:Redundant", source="OMIM:615181", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A is_a: MONDO:0018939 ! muscle-eye-brain disease property_value: exactMatch DOID:0111230 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554638 property_value: exactMatch https://omim.org/entry/615181 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0014072 name: D,L-2-hydroxyglutaric aciduria def: "D,L-2-hydroxyglutaric aciduria is a rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites." [Orphanet:356978] subset: ordo_disease {source="Orphanet:356978"} synonym: "combined D-2- and L-2-hydroxyglutaric aciduria" RELATED [MONDO:Lexical, OMIM:615182] synonym: "combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia" EXACT [Orphanet:356978] synonym: "combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria" EXACT [Orphanet:356978] synonym: "D,L-2-HGA" EXACT [Orphanet:356978] synonym: "D,L-2-hydroxyglutaric acidemia" EXACT [Orphanet:356978] synonym: "D,L-2-hydroxyglutaric aciduria" EXACT [] synonym: "D2L2AD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615182] xref: DOID:0111619 {source="MONDO:equivalentTo"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:615182 {source="MONDO:equivalentTo", source="Orphanet:356978", source="Orphanet:356978/e"} xref: Orphanet:356978 {source="MONDO:equivalentTo", source="OMIM:615182"} xref: SCTID:713401006 {source="MONDO:equivalentTo"} xref: UMLS:C4076194 {source="MONDO:equivalentTo"} is_a: MONDO:0016001 {source="Orphanet:356978"} ! 2-hydroxyglutaric aciduria property_value: exactMatch DOID:0111619 property_value: exactMatch http://identifiers.org/snomedct/713401006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4076194 property_value: exactMatch https://omim.org/entry/615182 property_value: exactMatch Orphanet:356978 [Term] id: MONDO:0014074 name: Charcot-Marie-Tooth disease dominant intermediate F def: "Autosomal dominant intermediate Charcot-Marie-Tooth disease type F is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range." [Orphanet:352670] comment: Not in the OMIM series. {source="OMIM:615185"} subset: ordo_disease {source="Orphanet:352670"} synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type F" EXACT [DOID:0110206] synonym: "Charcot-Marie-Tooth disease dominant intermediate type F" EXACT [DOID:0110206, MONDORULE:1] synonym: "Charcot-Marie-Tooth disease, dominant intermediate F" RELATED [MONDO:Lexical, OMIM:615185] synonym: "Charcot-Marie-Tooth disease, dominant Intermediate type F" EXACT [MONDORULE:1, OMIM:615185] synonym: "CMTDIF" EXACT ABBREVIATION [DOID:0110206, MONDO:Lexical, OMIM:615185, Orphanet:352670] synonym: "DI-CMTF" RELATED [GARD:0009206] synonym: "GNB4-related intermediate Charcot-Marie-Tooth neuropathy" RELATED [GARD:0009206] xref: DOID:0110206 {source="MONDO:equivalentTo"} xref: OMIM:615185 {source="Orphanet:352670", source="DOID:0110206", source="MONDO:equivalentTo", source="Orphanet:352670/e"} xref: Orphanet:352670 {source="DOID:0110206", source="MONDO:equivalentTo", source="OMIM:615185"} xref: UMLS:C3554654 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615185"} is_a: MONDO:0019548 {source="Orphanet:352670", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant intermediate Charcot-Marie-Tooth disease property_value: exactMatch DOID:0110206 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554654 property_value: exactMatch https://omim.org/entry/615185 property_value: exactMatch Orphanet:352670 [Term] id: MONDO:0014076 name: dyskeratosis congenita, autosomal recessive 5 def: "A dyskeratosis congenita that has material basis in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33." [DOID:0070020] synonym: "autosomal recessive dyskeratosis congenita 5" RELATED [DOID:0070022] synonym: "DKCB5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615190] synonym: "dyskeratosis congenita, autosomal dominant 4" RELATED [OMIM:615190] synonym: "dyskeratosis congenita, autosomal recessive 5" EXACT [MONDO:Lexical, OMIM:615190] synonym: "dyskeratosis congenita, autosomal recessive type 5" EXACT [MONDORULE:1, OMIM:615190] xref: DOID:0070020 {source="MONDO:relatedTo"} xref: DOID:0070022 {source="MONDO:equivalentTo"} xref: NCIT:C176928 {source="MONDO:equivalentTo"} xref: OMIM:615190 {source="DOID:0070022", source="MONDO:equivalentTo"} xref: Orphanet:3322 {source="MONDO:relatedTo", source="OMIM:615190"} xref: UMLS:C3554656 {source="OMIM:615190", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0015780 {source="DOID:0070022", source="MONDO:Redundant", source="OMIM:615190"} ! dyskeratosis congenita property_value: exactMatch DOID:0070022 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554656 property_value: exactMatch https://omim.org/entry/615190 property_value: exactMatch NCIT:C176928 [Term] id: MONDO:0014077 name: cobblestone lissencephaly without muscular or ocular involvement def: "Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures." [Orphanet:352682] subset: clingen subset: ordo_disease {source="Orphanet:352682"} synonym: "cobblestone lissencephaly without muscular or eye involvement" EXACT [Orphanet:352682] synonym: "cobblestone lissencephaly without muscular or ocular involvement" EXACT [] synonym: "LIS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615191] synonym: "lissencephaly 5" RELATED [MONDO:Lexical, OMIM:615191] synonym: "lissencephaly type 2 without muscular or eye involvement" EXACT [Orphanet:352682] synonym: "lissencephaly type 2 without muscular or ocular involvement" EXACT [Orphanet:352682] synonym: "lissencephaly type 5" EXACT [MONDORULE:1, OMIM:615191] xref: DOID:0112230 {source="MONDO:equivalentTo"} xref: OMIM:615191 {source="Orphanet:352682", source="MONDO:equivalentTo", source="Orphanet:352682/e"} xref: Orphanet:352682 {source="MONDO:equivalentTo", source="OMIM:615191"} xref: UMLS:C3554657 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615191"} is_a: MONDO:0018869 {source="Orphanet:352682"} ! cobblestone lissencephaly property_value: exactMatch DOID:0112230 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554657 property_value: exactMatch https://omim.org/entry/615191 property_value: exactMatch Orphanet:352682 [Term] id: MONDO:0014078 name: platelet-type bleeding disorder 15 def: "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ACTN1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "ACTN1 inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant macrothrombocytopenia ACTN1-related" EXACT [DOID:0111053] synonym: "BDPLT15" EXACT ABBREVIATION [DOID:0111053, MONDO:Lexical, OMIM:615193] synonym: "bleeding disorder, platelet-type, 15" RELATED [MONDO:Lexical, OMIM:615193] synonym: "inherited bleeding disorder, platelet-type caused by mutation in ACTN1" EXACT [MONDO:design_pattern] synonym: "macrothrombocytopenia, autosomal dominant, ACTN1-related" RELATED [OMIM:615193] synonym: "platelet-type bleeding disorder 15" EXACT [] xref: DOID:0111053 {source="MONDO:equivalentTo"} xref: OMIM:615193 {source="MONDO:equivalentTo", source="DOID:0111053"} xref: UMLS:C3554663 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615193"} is_a: MONDO:0000009 {source="MONDO:Redundant", source="OMIM:615193"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0015372 {source="Orphanet:140957/btnt"} ! autosomal dominant macrothrombocytopenia property_value: exactMatch DOID:0111053 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554663 property_value: exactMatch https://omim.org/entry/615193 [Term] id: MONDO:0014080 name: osteosclerotic metaphyseal dysplasia subset: ordo_malformation_syndrome synonym: "OSMD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615198] synonym: "osteosclerotic metaphyseal dysplasia" EXACT [MONDO:Lexical, OMIM:615198] xref: DOID:0081111 {source="MONDO:equivalentTo"} xref: OMIM:615198 {source="MONDO:equivalentTo", source="Orphanet:500548"} xref: Orphanet:500548 {source="MONDO:equivalentTo"} xref: UMLS:C3554665 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615198"} is_a: MONDO:0017198 {source="Orphanet:500548", source="PMID:31633310"} ! osteopetrosis property_value: exactMatch DOID:0081111 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554665 property_value: exactMatch https://omim.org/entry/615198 property_value: exactMatch Orphanet:500548 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0014081 name: severe combined immunodeficiency due to CARD11 deficiency def: "Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections." [Orphanet:357237] subset: ordo_disease {source="Orphanet:357237"} synonym: "CARD11 immunodeficiency" RELATED [OMIM:615206] synonym: "IMD11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615206] synonym: "IMD11A" RELATED ABBREVIATION [OMIM:615206] synonym: "immunodeficiency 11" RELATED [MONDO:Lexical, OMIM:615206] synonym: "immunodeficiency 11A" EXACT [OMIM:615206, OMIM:genemap2] synonym: "immunodeficiency type 11" EXACT [MONDORULE:2, OMIM:615206] synonym: "SCID due to CARD11 deficiency" EXACT [Orphanet:357237] xref: DOID:0111957 {source="MONDO:equivalentTo"} xref: OMIM:615206 {source="Orphanet:357237", source="MONDO:equivalentTo", source="Orphanet:357237/e"} xref: Orphanet:357237 {source="OMIM:615206", source="MONDO:equivalentTo"} xref: UMLS:C3554686 {source="OMIM:615206", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0044201 {source="Orphanet:357237"} ! T+ B+ severe combined immunodeficiency property_value: exactMatch DOID:0111957 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554686 property_value: exactMatch https://omim.org/entry/615206 property_value: exactMatch Orphanet:357237 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0014082 name: cryptosporidiosis-chronic cholangitis-liver disease syndrome subset: ordo_disease {source="Orphanet:357329"} synonym: "cryptosporidiosis-chronic cholangitis-liver disease syndrome" EXACT [] synonym: "IL21R immunodeficiency" RELATED [OMIM:615207] synonym: "IMD56" RELATED ABBREVIATION [OMIM:615207] synonym: "immunodeficiency 56" RELATED [OMIM:615207] xref: DOID:0111982 {source="MONDO:equivalentTo"} xref: OMIM:615207 {source="MONDO:equivalentTo", source="Orphanet:357329", source="Orphanet:357329/e"} xref: Orphanet:357329 {source="MONDO:equivalentTo", source="OMIM:615207"} xref: UMLS:C3554687 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615207"} is_a: MONDO:0021094 {source="OMIM:615207"} ! immunodeficiency disease property_value: exactMatch DOID:0111982 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554687 property_value: exactMatch https://omim.org/entry/615207 property_value: exactMatch Orphanet:357329 property_value: excluded_subClassOf MONDO:0018814 {source="Orphanet:357329"} [Term] id: MONDO:0014089 name: corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome subset: ordo_disease {source="Orphanet:352662"} synonym: "CIDED" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615225] synonym: "corneal intraepithelial dyskeratosis and ectodermal dysplasia" RELATED [MONDO:Lexical, OMIM:615225] synonym: "corneal intraepithelial dyskeratosis and ectodermal dysplasia, formerly" RELATED [OMIM:615225] synonym: "MSPC" EXACT ABBREVIATION [OMIM:616964] synonym: "palmoplantar carcinoma, multiple self-healing" EXACT [OMIM:616964] synonym: "palmoplantar carcinoma, multiple self-healing; MSPC" EXACT [] xref: OMIM:615225 {source="Orphanet:352662", source="MONDO:equivalentTo", source="Orphanet:352662/e"} xref: OMIM:616964 {source="MONDO:equivalentObsolete"} xref: Orphanet:352662 {source="OMIM:615225", source="MONDO:equivalentTo"} xref: UMLS:C3808876 {source="OMIM:615225", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:CN204511 {source="MONDO:equivalentTo"} is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma is_a: MONDO:0020212 {source="Orphanet:352662"} ! superficial corneal dystrophy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808876 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204511 property_value: exactMatch https://omim.org/entry/615225 property_value: exactMatch Orphanet:352662 [Term] id: MONDO:0014094 name: severe congenital hypochromic anemia with ringed sideroblasts def: "STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels." [Orphanet:300298] subset: ordo_disease {source="Orphanet:300298"} synonym: "AHMIO2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615234] synonym: "anemia, hypochromic microcytic, with iron overload 2" RELATED [MONDO:Lexical, OMIM:615234] synonym: "anemia, hypochromic microcytic, with iron overload type 2" EXACT [MONDORULE:1, OMIM:615234] synonym: "severe congenital hypochromic sideroblastic anaemia" EXACT OMO:0003005 [] synonym: "severe congenital hypochromic sideroblastic anemia" EXACT [Orphanet:300298] xref: OMIM:615234 {source="Orphanet:300298", source="MONDO:equivalentTo", source="Orphanet:300298/e"} xref: Orphanet:300298 {source="OMIM:615234", source="MONDO:equivalentTo"} xref: SCTID:725463007 {source="MONDO:equivalentTo"} xref: UMLS:C3808920 {source="OMIM:615234", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4511137 {source="MONDO:equivalentTo"} is_a: MONDO:0000104 {source="DC-OMIM:615234", source="OMIM:615234"} ! anemia, hypochromic microcytic with iron overload is_a: MONDO:0000577 ! congenital anemia is_a: MONDO:0016624 ! inherited deficiency anemia is_a: MONDO:0020099 {source="Orphanet:300298"} ! inherited sideroblastic anemia property_value: exactMatch http://identifiers.org/snomedct/725463007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808920 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4511137 property_value: exactMatch https://omim.org/entry/615234 property_value: exactMatch Orphanet:300298 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0014096 name: microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome def: "This syndrome is characterized by microcephaly, severe intellectual deficit, phalangeal anomalies (cutaneous syndactyly of the fingers, toe brachyclinodactyly and nail hypoplasia) and neurological manifestations (epilepsy, spastic/dystonic paraplegia and brisk reflexes)." [Orphanet:137658] subset: gard_rare {source="GARD:0003498"} subset: ordo_malformation_syndrome {source="Orphanet:137658"} synonym: "WOODS syndrome" RELATED [OMIM:615236] synonym: "Woods-Crouchman-Huson syndrome" EXACT [Orphanet:137658] xref: OMIM:615236 {source="MONDO:equivalentTo", source="Orphanet:137658", source="Orphanet:137658/e"} xref: Orphanet:137658 {source="OMIM:615236", source="MONDO:equivalentObsolete"} xref: SCTID:719396000 {source="MONDO:equivalentTo"} xref: UMLS:C0796203 {source="OMIM:615236", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015159 {source="Orphanet:137658"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/snomedct/719396000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796203 property_value: exactMatch https://omim.org/entry/615236 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3498/microcephaly-intellectual-disability-phalangeal-and-neurological-anomalies-syndrome xsd:anyURI {source="GARD:0003498"} [Term] id: MONDO:0014097 name: congenital short bowel syndrome def: "Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive." [Orphanet:2301] subset: ordo_morphological_anomaly {source="Orphanet:2301"} synonym: "congenital short bowel syndrome" EXACT [MONDO:Lexical, OMIM:615237] synonym: "CSBS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615237] xref: Orphanet:2301 {source="OMIM:615237", source="MONDO:equivalentTo"} xref: SCTID:715201005 {source="MONDO:equivalentTo"} is_a: MONDO:0015211 {source="Orphanet:2301"} ! non-syndromic intestinal malformation is_a: MONDO:0018241 {source="Orphanet:2301"} ! primary short bowel syndrome property_value: exactMatch http://identifiers.org/snomedct/715201005 property_value: exactMatch Orphanet:2301 [Term] id: MONDO:0014101 name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 def: "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMK gene." [MONDO:patterns/disease_series_by_gene] synonym: "MDDGA12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615249] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12" RELATED [OMIM:615249] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12" EXACT [MONDO:Lexical, OMIM:615249] synonym: "muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMK" EXACT [MONDO:design_pattern] synonym: "POMK muscular dystrophy-dystroglycanopathy, type A" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, POMK-related" RELATED [OMIM:615249] xref: DOID:0111235 {source="MONDO:equivalentTo"} xref: OMIM:615249 {source="MONDO:equivalentTo"} xref: Orphanet:899 {source="MONDO:relatedTo", source="OMIM:615249"} xref: UMLS:C3808964 {source="OMIM:615249", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000171 {source="MONDO:Redundant", source="OMIM:615249", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A property_value: exactMatch DOID:0111235 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808964 property_value: exactMatch https://omim.org/entry/615249 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0014109 name: obsolete NGLY1-deficiency property_value: IAO:0000231 IAO:0000229 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4864 xsd:anyURI is_obsolete: true replaced_by: MONDO:0800044 [Term] id: MONDO:0014115 name: hypomyelination with brain stem and spinal cord involvement and leg spasticity subset: ordo_disease {source="Orphanet:363412"} synonym: "aspartyl-tRNA synthetase deficiency" RELATED [OMIM:615281] synonym: "HBSL" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615281, Orphanet:363412] synonym: "hypomyelination with brainstem and spinal cord involvement and leg spasticity" RELATED [MONDO:Lexical, OMIM:615281] xref: OMIM:615281 {source="MONDO:equivalentTo", source="Orphanet:363412", source="Orphanet:363412/e"} xref: Orphanet:363412 {source="MONDO:equivalentTo", source="OMIM:615281"} xref: UMLS:C3809008 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615281"} is_a: MONDO:0019046 {source="Orphanet:363412"} ! leukodystrophy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809008 property_value: exactMatch https://omim.org/entry/615281 property_value: exactMatch Orphanet:363412 [Term] id: MONDO:0014117 name: Charcot-Marie-Tooth disease type 4B3 def: "Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss)." [Orphanet:363981] subset: ordo_disease {source="Orphanet:363981"} synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in SBF1" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease with focally folded myelin" EXACT [Orphanet:363981] synonym: "Charcot-Marie-Tooth disease, type 4B3" RELATED [MONDO:Lexical, OMIM:615284] synonym: "CMT4B3" EXACT ABBREVIATION [DOID:0110194, MONDO:Lexical, OMIM:615284, Orphanet:363981] synonym: "SBF1 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110194 {source="MONDO:equivalentTo"} xref: OMIM:615284 {source="Orphanet:363981", source="DOID:0110194", source="MONDO:equivalentTo", source="Orphanet:363981/e"} xref: Orphanet:363981 {source="DOID:0110194", source="MONDO:equivalentTo", source="OMIM:615284"} xref: SCTID:763345008 {source="MONDO:equivalentTo"} xref: UMLS:C3695063 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615284"} is_a: MONDO:0018995 {source="DOID:0110194", source="MONDO:Redundant", source="Orphanet:363981"} ! Charcot-Marie-Tooth disease type 4 property_value: exactMatch DOID:0110194 property_value: exactMatch http://identifiers.org/snomedct/763345008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3695063 property_value: exactMatch https://omim.org/entry/615284 property_value: exactMatch Orphanet:363981 [Term] id: MONDO:0014118 name: congenital neutropenia-myelofibrosis-nephromegaly syndrome subset: ordo_disease {source="Orphanet:369852"} synonym: "congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome" EXACT [Orphanet:369852] synonym: "neutropenia, severe congenital, 5, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615285] synonym: "SCN5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615285] synonym: "vps45 deficiency" EXACT [Orphanet:369852] xref: DOID:0112132 {source="MONDO:equivalentTo"} xref: OMIM:615285 {source="Orphanet:369852", source="MONDO:equivalentTo", source="Orphanet:369852/e"} xref: Orphanet:369852 {source="MONDO:equivalentTo", source="OMIM:615285"} xref: UMLS:C3809031 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615285"} is_a: MONDO:0028226 ! autosomal recessive severe congenital neutropenia property_value: exactMatch DOID:0112132 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809031 property_value: exactMatch https://omim.org/entry/615285 property_value: exactMatch Orphanet:369852 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0014119 name: intellectual disability-strabismus syndrome subset: ordo_disease {source="Orphanet:363528"} synonym: "intellectual disability, autosomal recessive 36" RELATED [MONDO:Lexical, OMIM:615286] synonym: "intellectual disability, autosomal recessive type 36" EXACT [MONDORULE:2, OMIM:615286] synonym: "mental retardation, autosomal recessive 36" RELATED DEPRECATED [MONDO:Lexical, OMIM:615286] synonym: "mental retardation, autosomal recessive type 36" EXACT DEPRECATED [MONDORULE:2, OMIM:615286] synonym: "MRT36" RELATED DEPRECATED [MONDO:Lexical, OMIM:615286] synonym: "neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies" EXACT [OMIM:615286, OMIM:genemap2] xref: DOID:0081099 {source="MONDO:equivalentTo"} xref: OMIM:615286 {source="Orphanet:363528/e", source="MONDO:equivalentTo", source="Orphanet:363528"} xref: Orphanet:363528 {source="MONDO:equivalentTo", source="OMIM:615286"} xref: UMLS:C3809039 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615286"} is_a: MONDO:0015368 ! neuro-ophthalmological disease property_value: exactMatch DOID:0081099 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809039 property_value: exactMatch https://omim.org/entry/615286 property_value: exactMatch Orphanet:363528 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:363528"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0014120 name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 synonym: "MDDGA13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615287] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13" RELATED [MONDO:Lexical, OMIM:615287] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, B3Gnt1-related" RELATED [OMIM:615287] xref: DOID:0111238 {source="MONDO:equivalentTo"} xref: OMIM:615287 {source="MONDO:equivalentTo"} xref: Orphanet:899 {source="MONDO:relatedTo", source="OMIM:615287"} xref: UMLS:C3809042 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615287"} is_a: MONDO:0000171 {source="OMIM:615287", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A property_value: exactMatch DOID:0111238 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809042 property_value: exactMatch https://omim.org/entry/615287 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0014121 name: autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures subset: ordo_clinical_subtype {source="Orphanet:363454"} synonym: "autosomal dominant spinal muscular atrophy, lower extremity-predominant 2" RELATED [GARD:0013222] synonym: "Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures" EXACT [Orphanet:363454] synonym: "SMALED2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615290, Orphanet:363454] synonym: "spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant" RELATED [GARD:0013222] synonym: "spinal muscular atrophy, LOWER extremity-predominant, 2, autosomal dominant" RELATED [MONDO:Lexical, OMIM:615290] synonym: "spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant" EXACT [OMIM:615290, OMIM:genemap2] xref: DOID:0070349 {source="MONDO:equivalentTo"} xref: OMIM:615290 {source="Orphanet:363454", source="MONDO:equivalentTo", source="Orphanet:363454/e"} xref: Orphanet:363454 {source="MONDO:equivalentTo", source="OMIM:615290"} xref: UMLS:C3809049 {source="MONDO:equivalentObsolete", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615290"} is_a: MONDO:0018190 {source="OMIM:615290", source="Orphanet:363454"} ! autosomal dominant childhood-onset proximal spinal muscular atrophy property_value: exactMatch DOID:0070349 property_value: exactMatch https://omim.org/entry/615290 property_value: exactMatch Orphanet:363454 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0014127 name: oculocutaneous albinism type 5 def: "Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered." [Orphanet:370091] subset: ordo_disease {source="Orphanet:370091"} synonym: "albinism, oculocutaneous, type V" RELATED [MONDO:Lexical, OMIM:615312] synonym: "OCA5" EXACT ABBREVIATION [DOID:0070099, MONDO:Lexical, OMIM:615312, Orphanet:370091] synonym: "oculocutaneous albinism type V" RELATED [DOID:0070099] xref: DOID:0070099 {source="MONDO:equivalentTo"} xref: OMIM:615312 {source="DOID:0070099", source="Orphanet:370091/e", source="MONDO:equivalentTo", source="Orphanet:370091"} xref: Orphanet:370091 {source="OMIM:615312", source="MONDO:equivalentTo"} xref: SCTID:722057000 {source="MONDO:equivalentTo"} xref: UMLS:CN204842 {source="MONDO:equivalentTo"} is_a: MONDO:0018910 {source="DC-OMIM:615312", source="DOID:0070099", source="OMIM:615312", source="Orphanet:370091"} ! oculocutaneous albinism property_value: exactMatch DOID:0070099 property_value: exactMatch http://identifiers.org/snomedct/722057000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204842 property_value: exactMatch https://omim.org/entry/615312 property_value: exactMatch Orphanet:370091 [Term] id: MONDO:0014128 name: TCF12-related craniosynostosis def: "Any syndromic craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene." [https://clinicalgenome.org/affiliation/40059/, MONDO:patterns/disease_series_by_gene, PMID:23354436] synonym: "craniosynostosis 3" EXACT [MONDO:Lexical, OMIM:615314] synonym: "craniosynostosis caused by mutation in TCF12" EXACT [MONDO:design_pattern] synonym: "craniosynostosis type 3" EXACT [MONDORULE:1, OMIM:615314] synonym: "CRS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615314] synonym: "TCF12 craniosynostosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "TCF12-related craniosynostosis" EXACT [] xref: OMIM:615314 {source="MONDO:equivalentTo"} xref: UMLS:C3715051 {source="OMIM:615314", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015338 {source="PMID:31633310"} ! syndromic craniosynostosis property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3715051 property_value: exactMatch https://omim.org/entry/615314 property_value: excluded_subClassOf MONDO:0018113 {source="Orphanet:35098/btnt"} property_value: excluded_subClassOf MONDO:0018114 {source="Orphanet:35099/btnt"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2657 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0014129 name: obsolete autosomal recessive limb-girdle muscular dystrophy type 2R property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4370 xsd:anyURI is_obsolete: true replaced_by: MONDO:0011076 [Term] id: MONDO:0014131 name: hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome subset: ordo_disease {source="Orphanet:363523"} synonym: "SHAHEEN syndrome" RELATED [MONDO:Lexical, OMIM:615328] synonym: "SHNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615328] xref: OMIM:615328 {source="MONDO:equivalentTo", source="Orphanet:363523", source="Orphanet:363523/e"} xref: Orphanet:363523 {source="MONDO:equivalentTo", source="OMIM:615328"} xref: UMLS:C3809160 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615328"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0017666 {source="MONDO:0017671-obsoleted"} ! diffuse palmoplantar keratoderma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809160 property_value: exactMatch https://omim.org/entry/615328 property_value: exactMatch Orphanet:363523 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:363523"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0014132 name: multiple mitochondrial dysfunctions syndrome 3 def: "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the IBA57 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:363424"} synonym: "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in IBA57" EXACT [MONDO:design_pattern] synonym: "IBA57 deficiency" EXACT [Orphanet:363424] synonym: "IBA57 fatal multiple mitochondrial dysfunctions syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "MMDS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615330] synonym: "multiple mitochondrial dysfunctions syndrome 3" EXACT [MONDO:Lexical, OMIM:615330] synonym: "multiple mitochondrial dysfunctions syndrome type 3" EXACT [DOID:0080135, MONDORULE:1, OMIM:615330] xref: DOID:0080135 {source="MONDO:equivalentTo"} xref: OMIM:615330 {source="MONDO:equivalentTo", source="DOID:0080135", source="Orphanet:363424", source="Orphanet:363424/e"} xref: Orphanet:363424 {source="MONDO:equivalentTo", source="OMIM:615330"} xref: UMLS:C3809165 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615330"} is_a: MONDO:0017338 {source="MONDO:Redundant", source="OMIM:615330", source="Orphanet:363424"} ! fatal multiple mitochondrial dysfunctions syndrome property_value: exactMatch DOID:0080135 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809165 property_value: exactMatch https://omim.org/entry/615330 property_value: exactMatch Orphanet:363424 [Term] id: MONDO:0014137 name: precocious puberty, central, 2 def: "Any central precocious puberty in which the cause of the disease is a mutation in the MKRN3 gene." [MONDO:patterns/disease_series_by_gene] synonym: "central precocious puberty caused by mutation in MKRN3" EXACT [MONDO:design_pattern] synonym: "CPPB2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615346] synonym: "MKRN3 central precocious puberty" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "precocious puberty, central, 2" EXACT [MONDO:Lexical, OMIM:615346] synonym: "precocious puberty, central, type 2" EXACT [MONDORULE:1, OMIM:615346] xref: DOID:0112309 {source="MONDO:equivalentTo"} xref: OMIM:615346 {source="MONDO:equivalentTo"} xref: UMLS:C3809199 {source="OMIM:615346", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0009029 {source="MONDO:Redundant", source="Orphanet:759/btnt"} ! Central precocious puberty property_value: exactMatch DOID:0112309 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809199 property_value: exactMatch https://omim.org/entry/615346 [Term] id: MONDO:0014138 name: nemaline myopathy 8 def: "An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles." [NCIT:C129871] synonym: "KLHL40 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "NEM8" EXACT ABBREVIATION [DOID:0110930, MONDO:Lexical, OMIM:615348] synonym: "nemaline myopathy 8" EXACT [MONDO:Lexical, OMIM:615348] synonym: "nemaline myopathy 8, autosomal recessive" EXACT [DOID:0110930] synonym: "nemaline myopathy caused by mutation in KLHL40" EXACT [MONDO:design_pattern] synonym: "nemaline myopathy type 8" EXACT [DOID:0110930, MONDORULE:1, OMIM:615348] xref: DOID:0110930 {source="MONDO:equivalentTo"} xref: NCIT:C129871 {source="MONDO:equivalentTo"} xref: OMIM:615348 {source="DOID:0110930", source="MONDO:equivalentTo"} xref: UMLS:C3809209 {source="NCIT:C129871", source="OMIM:615348", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015735 {source="Orphanet:171430/btnt"} ! severe congenital nemaline myopathy property_value: exactMatch DOID:0110930 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809209 property_value: exactMatch https://omim.org/entry/615348 property_value: exactMatch NCIT:C129871 [Term] id: MONDO:0014140 name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 synonym: "MDDGA14" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615350] synonym: "muscle-eye-brain-GMPPB related" EXACT [https://clinicalgenome.org/affiliation/50061/] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14" RELATED [MONDO:Lexical, OMIM:615350] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, GMPPB-related" RELATED [OMIM:615350] xref: DOID:0111233 {source="MONDO:equivalentTo"} xref: OMIM:615350 {source="MONDO:equivalentTo"} xref: UMLS:C3809216 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615350"} is_a: MONDO:0000171 {source="OMIM:615350"} ! muscular dystrophy-dystroglycanopathy, type A is_a: MONDO:0018939 ! muscle-eye-brain disease is_a: MONDO:0700084 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in GMPPB property_value: exactMatch DOID:0111233 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809216 property_value: exactMatch https://omim.org/entry/615350 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0014141 name: muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 synonym: "congenital muscular dystrophy-GMPPB related" EXACT [https://clinicalgenome.org/affiliation/50061/] synonym: "MDDGB14" RELATED DEPRECATED [MONDO:Lexical, OMIM:615351] synonym: "muscular dystrophy, congenital, GMPPB-related" RELATED [OMIM:615351] synonym: "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 14" RELATED [MONDO:Lexical, OMIM:615351] synonym: "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14" RELATED DEPRECATED [MONDO:Lexical, OMIM:615351] xref: DOID:0112377 {source="MONDO:equivalentTo"} xref: OMIM:615351 {source="MONDO:equivalentTo"} xref: Orphanet:370959 {source="MONDO:relatedTo", source="OMIM:615351"} xref: Orphanet:370968 {source="MONDO:relatedTo", source="OMIM:615351"} xref: UMLS:C3809221 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615351"} is_a: MONDO:0000172 {source="DC-OMIM:615351", source="OMIM:615351"} ! muscular dystrophy-dystroglycanopathy, type B is_a: MONDO:0700084 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in GMPPB property_value: exactMatch DOID:0112377 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809221 property_value: exactMatch https://omim.org/entry/615351 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0014142 name: autosomal recessive limb-girdle muscular dystrophy type 2T def: "Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency." [Orphanet:363623] subset: ordo_disease {source="Orphanet:363623"} synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in GMPPB" EXACT [MONDO:design_pattern] synonym: "GMPPB autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "LGMD-GMPPB related" EXACT [https://clinicalgenome.org/affiliation/50061/] synonym: "LGMD2T" EXACT ABBREVIATION [DOID:0110294, Orphanet:363623] synonym: "limb-girdle muscular dystrophy type 2T" RELATED [GARD:0012544] synonym: "MDDGC14" EXACT ABBREVIATION [DOID:0110294, MONDO:Lexical, OMIM:615352] synonym: "muscular dystrophy limb-girdle type 2T" EXACT [DOID:0110294] synonym: "muscular dystrophy, limb-girdle, type 2T" RELATED [OMIM:615352] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C14" EXACT [DOID:0110294] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14" RELATED [MONDO:Lexical, OMIM:615352] synonym: "muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related" EXACT [DOID:0110294] synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, GMPPB-related" RELATED [OMIM:615352] xref: DOID:0110294 {source="MONDO:equivalentTo"} xref: OMIM:615352 {source="MONDO:equivalentTo", source="Orphanet:363623", source="DOID:0110294", source="Orphanet:363623/e"} xref: Orphanet:363623 {source="MONDO:equivalentTo", source="DOID:0110294", source="OMIM:615352"} xref: UMLS:C3714932 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615352"} is_a: MONDO:0000173 {source="DC-OMIM:615352", source="OMIM:615352"} ! muscular dystrophy-dystroglycanopathy, type C is_a: MONDO:0015152 {source="DOID:0110294", source="MONDO:Redundant", source="OMIM:615352", source="Orphanet:363623"} ! autosomal recessive limb-girdle muscular dystrophy is_a: MONDO:0017745 {source="Orphanet:363623"} ! disorder of O-mannosylglycan synthesis is_a: MONDO:0700084 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in GMPPB property_value: exactMatch DOID:0110294 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3714932 property_value: exactMatch https://omim.org/entry/615352 property_value: exactMatch Orphanet:363623 [Term] id: MONDO:0014144 name: autosomal recessive limb-girdle muscular dystrophy type R18 def: "A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures." [https://orcid.org/0000-0001-5208-3432, Orphanet:369840, PMID:30055862] subset: ordo_disease {source="Orphanet:369840"} synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRAPPC11" EXACT [MONDO:design_pattern] synonym: "autosomal recessive limb-girdle muscular dystrophy type 2S" EXACT [Orphanet:369840] synonym: "LGMD2S" EXACT ABBREVIATION [DOID:0110287, MONDO:Lexical, OMIM:615356, Orphanet:369840] synonym: "limb-girdle muscular dystrophy type 2S" RELATED [GARD:0012543] synonym: "muscular dystrophy, limb-girdle, autosomal recessive 18" EXACT [OMIM:615356, OMIM:genemap2] synonym: "muscular dystrophy, limb-girdle, type 2S" EXACT [DOID:0110287, MONDO:Lexical, OMIM:615356] synonym: "TRAPPC11 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110287 {source="MONDO:equivalentTo"} xref: OMIM:615356 {source="Orphanet:369840", source="MONDO:equivalentTo", source="Orphanet:369840/e", source="DOID:0110287"} xref: Orphanet:369840 {source="OMIM:615356", source="MONDO:equivalentTo", source="DOID:0110287"} xref: UMLS:C3809236 {source="OMIM:615356", source="MONDO:equivalentObsolete", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015152 {source="DOID:0110287", source="MONDO:Redundant", source="OMIM:615356", source="Orphanet:369840"} ! autosomal recessive limb-girdle muscular dystrophy is_a: MONDO:0018243 ! intellectual disability-hyperkinetic movement-truncal ataxia syndrome property_value: exactMatch DOID:0110287 property_value: exactMatch https://omim.org/entry/615356 property_value: exactMatch Orphanet:369840 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0014147 name: neuronal ceroid lipofuscinosis 13 def: "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CTSF gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_etiological_subtype {source="Orphanet:352709"} synonym: "ceroid lipofuscinosis, neuronal, 13" RELATED [MONDO:Lexical, OMIM:615362] synonym: "ceroid lipofuscinosis, neuronal, 13 (Kufs type)" EXACT [OMIM:615362, OMIM:genemap2] synonym: "ceroid lipofuscinosis, neuronal, 13, Kufs type" RELATED [OMIM:615362] synonym: "ceroid lipofuscinosis, neuronal, type 13" EXACT [MONDORULE:2, OMIM:615362] synonym: "CLN13" EXACT ABBREVIATION [DOID:0110727, MONDO:Lexical, OMIM:615362] synonym: "CLN13 disease" RELATED [Orphanet:352709] synonym: "CTSF neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "neuronal ceroid lipofuscinosis 13 Kufs type" EXACT [DOID:0110727] synonym: "neuronal ceroid lipofuscinosis caused by mutation in CTSF" EXACT [MONDO:design_pattern] synonym: "neuronal ceroid lipofuscinosis type 13" EXACT [DOID:0110727, MONDORULE:2] xref: DOID:0110727 {source="MONDO:equivalentTo"} xref: OMIM:615362 {source="Orphanet:352709", source="DOID:0110727", source="MONDO:equivalentTo", source="Orphanet:352709/e"} xref: Orphanet:352709 {source="DOID:0110727", source="MONDO:equivalentTo", source="OMIM:615362"} xref: UMLS:C3715049 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615362"} is_a: MONDO:0019260 {source="Orphanet:352709"} ! adult neuronal ceroid lipofuscinosis property_value: exactMatch DOID:0110727 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3715049 property_value: exactMatch https://omim.org/entry/615362 property_value: exactMatch Orphanet:352709 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0014149 name: fetal akinesia-cerebral and retinal hemorrhage syndrome def: "Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate." [Orphanet:363409] subset: ordo_disease {source="Orphanet:363409"} synonym: "LCCS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615368] synonym: "lethal congenital contracture syndrome 5" RELATED [MONDO:Lexical, OMIM:615368] synonym: "lethal congenital contracture syndrome type 5" EXACT [MONDORULE:1, OMIM:615368] synonym: "myopathy, centronuclear, lethal, autosomal recessive" RELATED [OMIM:615368] xref: OMIM:615368 {source="Orphanet:363409/e", source="MONDO:equivalentTo", source="Orphanet:363409"} xref: Orphanet:363409 {source="OMIM:615368", source="MONDO:equivalentTo"} xref: SCTID:763346009 {source="MONDO:equivalentTo"} xref: UMLS:C3809272 {source="OMIM:615368", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0017436 {source="DC-OMIM:615368", source="OMIM:615368"} ! lethal congenital contracture syndrome is_a: MONDO:0019952 {source="Orphanet:363409"} ! congenital myopathy property_value: exactMatch http://identifiers.org/snomedct/763346009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809272 property_value: exactMatch https://omim.org/entry/615368 property_value: exactMatch Orphanet:363409 [Term] id: MONDO:0014154 name: Charcot-Marie-Tooth disease recessive intermediate C def: "Autosomal recessive intermediate Charcot-Marie-Tooth disease type C is a rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy." [Orphanet:369867] subset: ordo_disease {source="Orphanet:369867"} synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type C" EXACT [DOID:0110198] synonym: "Charcot-Marie-Tooth disease caused by mutation in PLEKHG5" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease recessive intermediate type C" EXACT [DOID:0110198, MONDORULE:1] synonym: "Charcot-Marie-Tooth disease, recessive intermediate C" RELATED [MONDO:Lexical, OMIM:615376] synonym: "Charcot-Marie-Tooth disease, recessive Intermediate type C" EXACT [MONDORULE:1, OMIM:615376] synonym: "Charcot-Marie-Tooth neuropathy, recessive Intermediate C" RELATED [OMIM:615376] synonym: "CMTRIC" EXACT ABBREVIATION [DOID:0110198, MONDO:Lexical, OMIM:615376] synonym: "PLEKHG5 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "RI-CMT type C" EXACT [DOID:0110198, Orphanet:369867] synonym: "RI-CMTC" EXACT [DOID:0110198] xref: DOID:0110198 {source="MONDO:equivalentTo"} xref: OMIM:615376 {source="Orphanet:369867", source="MONDO:equivalentTo", source="DOID:0110198", source="Orphanet:369867/e"} xref: Orphanet:369867 {source="MONDO:equivalentTo", source="DOID:0110198", source="OMIM:615376"} xref: UMLS:C3809309 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615376"} is_a: MONDO:0017058 {source="Orphanet:369867"} ! autosomal recessive intermediate Charcot-Marie-Tooth disease property_value: exactMatch DOID:0110198 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809309 property_value: exactMatch https://omim.org/entry/615376 property_value: exactMatch Orphanet:369867 [Term] id: MONDO:0014157 name: mandibular hypoplasia-deafness-progeroid syndrome subset: ordo_disease {source="Orphanet:363649"} synonym: "mandibular hypoplasia, deafness, progeroid features" RELATED [GARD:0010989] synonym: "mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome" RELATED [MONDO:Lexical, OMIM:615381] synonym: "mandibular hypoplasia-hearing loss-progeroid syndrome" EXACT [Orphanet:363649] synonym: "MDP syndrome" EXACT [Orphanet:363649] synonym: "MDPL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615381] xref: OMIM:615381 {source="Orphanet:363649/e", source="MONDO:equivalentTo", source="Orphanet:363649"} xref: Orphanet:363649 {source="MONDO:equivalentTo", source="OMIM:615381"} xref: UMLS:C3715192 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615381"} is_a: MONDO:0019303 {source="Orphanet:363649"} ! premature aging syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3715192 property_value: exactMatch https://omim.org/entry/615381 property_value: exactMatch Orphanet:363649 property_value: excluded_subClassOf MONDO:0015333 {source="Orphanet:363649"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1567 xsd:anyURI [Term] id: MONDO:0014158 name: nephronophthisis 16 def: "Any nephronophthisis in which the cause of the disease is a mutation in the ANKS6 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_clinical_subtype {source="Orphanet:93591"} synonym: "ANKS6 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive infantile nephronophthisis" RELATED [Orphanet:93591] synonym: "autosomal recessive infantile NPHP" RELATED [Orphanet:93591] synonym: "infantile nephronophthisis" RELATED [Orphanet:93591] synonym: "nephronophthisis (disease) caused by mutation in ANKS6" EXACT [] synonym: "nephronophthisis 16" EXACT [MONDO:Lexical, OMIM:615382] synonym: "nephronophthisis type 16" EXACT [DOID:0111124, MONDORULE:2, OMIM:615382] synonym: "NPHP16" EXACT ABBREVIATION [DOID:0111124, MONDO:Lexical, OMIM:615382] xref: DOID:0111124 {source="MONDO:equivalentTo"} xref: OMIM:615382 {source="MONDO:equivalentTo", source="DOID:0111124", source="Orphanet:93591"} xref: Orphanet:93591 {source="MONDO:relatedTo"} xref: SCTID:444558002 {source="MONDO:equivalentTo"} xref: UMLS:C3809320 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615382"} is_a: MONDO:0019005 {source="DOID:0111124", source="MONDO:Redundant", source="OMIM:615382", source="Orphanet:93591"} ! nephronophthisis property_value: exactMatch DOID:0111124 property_value: exactMatch http://identifiers.org/snomedct/444558002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809320 property_value: exactMatch https://omim.org/entry/615382 [Term] id: MONDO:0014159 name: autosomal recessive spinocerebellar ataxia 14 def: "Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement)." [Orphanet:352403] subset: ordo_disease {source="Orphanet:352403"} synonym: "Ataxie spinocérébelleuse à début infantile avec retard psychomoteur" EXACT [Orphanet:352403] synonym: "autosomal recessive cerebellar ataxia caused by mutation in SPTBN2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive cerebellar ataxia-cognitive defect syndrome" EXACT [Orphanet:352403] synonym: "autosomal recessive spinocerebellar ataxia type 14" EXACT [DOID:0080058, MONDORULE:2, Orphanet:352403] synonym: "cerebellar ataxia, autosomal recessive, spectrin-associated, 1" RELATED [OMIM:615386] synonym: "infantile-onset spinocerebellar ataxia-psychomotor delay syndrome" EXACT [Orphanet:352403] synonym: "SCAR14" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615386, Orphanet:352403] synonym: "SPARCA" EXACT ABBREVIATION [Orphanet:352403] synonym: "SPARCA1" EXACT ABBREVIATION [Orphanet:352403] synonym: "spectrin-associated autosomal recessive cerebellar ataxia" RELATED [Orphanet:352403] synonym: "spectrin-associated autosomal recessive cerebellar ataxia type 1" EXACT [Orphanet:352403] synonym: "spinocerebellar ataxia, autosomal recessive 14" RELATED [MONDO:Lexical, OMIM:615386] synonym: "spinocerebellar ataxia, autosomal recessive type 14" EXACT [MONDORULE:2, OMIM:615386] synonym: "SPTBN2 autosomal recessive cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080058 {source="MONDO:equivalentTo"} xref: OMIM:615386 {source="MONDO:equivalentTo", source="DOID:0080058", source="Orphanet:352403", source="Orphanet:352403/e"} xref: Orphanet:352403 {source="MONDO:equivalentTo", source="OMIM:615386"} xref: SCTID:763351003 {source="MONDO:equivalentTo"} xref: UMLS:C3809327 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615386"} is_a: MONDO:0015244 {source="DOID:0080058", source="MONDO:Redundant", source="Orphanet:352403"} ! autosomal recessive cerebellar ataxia property_value: exactMatch DOID:0080058 property_value: exactMatch http://identifiers.org/snomedct/763351003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809327 property_value: exactMatch https://omim.org/entry/615386 property_value: exactMatch Orphanet:352403 [Term] id: MONDO:0014160 name: TCR-alpha-beta-positive T-cell deficiency def: "A non-severe combined immunodeficiency disorder manifesting with recurrent respiratory infections, candidiasis, diarrhea, and failure to thrive. Patients show a clear predisposition to herpes viral infections, and features of immune dysregulation, including hypereosinophilia, vitiligo, and alopecia areata. Other features include lymphadenopathy and hepatosplenomegaly. CD3+ T-cells express TCR- gamma|delta, but little or no TCR-alpha|beta." [DOID:0111977, https://orcid.org/0000-0003-4062-6158, OMIM:615387] subset: ordo_disease {source="Orphanet:397959"} synonym: "IMD7" EXACT ABBREVIATION [DOID:0111977, OMIM:615387] synonym: "immunodeficiency 7" RELATED [OMIM:615387] synonym: "immunodeficiency 7, TCR-alpha/beta deficient" EXACT [DOID:0111977, OMIM:615387] synonym: "T-cell receptor-ALPHA/BETA deficiency" RELATED [OMIM:615387] synonym: "TCR-alpha-beta+ T-cell deficiency" EXACT [Orphanet:397959] synonym: "TCR-Alpha/Beta deficiency" RELATED [OMIM:615387] xref: DOID:0111977 {source="MONDO:equivalentTo"} xref: OMIM:615387 {source="Orphanet:397959/e", source="MONDO:equivalentTo", source="Orphanet:397959"} xref: Orphanet:397959 {source="MONDO:equivalentTo", source="OMIM:615387"} xref: UMLS:C3809332 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615387"} is_a: MONDO:0018814 {source="Orphanet:397959", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency property_value: exactMatch DOID:0111977 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809332 property_value: exactMatch https://omim.org/entry/615387 property_value: exactMatch Orphanet:397959 [Term] id: MONDO:0014162 name: infantile hypertrophic cardiomyopathy due to MRPL44 deficiency def: "Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life." [Orphanet:352563] subset: ordo_disease {source="Orphanet:352563"} synonym: "combined oxidative phosphorylation defect type 16" EXACT [Orphanet:352563] synonym: "combined oxidative phosphorylation deficiency 16" RELATED [MONDO:Lexical, OMIM:615395] synonym: "combined oxidative phosphorylation deficiency caused by mutation in MRPL44" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 16" EXACT [MONDORULE:2, OMIM:615395] synonym: "COXPD16" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615395, Orphanet:352563] synonym: "MRPL44 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111469 {source="MONDO:equivalentTo"} xref: OMIM:615395 {source="Orphanet:352563", source="MONDO:equivalentTo", source="Orphanet:352563/e"} xref: Orphanet:352563 {source="MONDO:equivalentTo", source="OMIM:615395"} xref: UMLS:C3809339 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615395"} is_a: MONDO:0000732 {source="DC-OMIM:615395", source="MONDO:Redundant", source="OMIM:615395"} ! combined oxidative phosphorylation deficiency property_value: exactMatch DOID:0111469 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809339 property_value: exactMatch https://omim.org/entry/615395 property_value: exactMatch Orphanet:352563 [Term] id: MONDO:0014165 name: multiple congenital anomalies-hypotonia-seizures syndrome 3 def: "A rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase." [https://orcid.org/0000-0001-5208-3432, Orphanet:369837] subset: ordo_malformation_syndrome {source="Orphanet:369837"} synonym: "congenital disorder of glycosylation due to PIGT deficiency" EXACT [Orphanet:369837] synonym: "glycosylphosphatidylinositol biosynthesis defect 7" RELATED [OMIM:615398] synonym: "intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome" RELATED [Orphanet:369837] synonym: "LFSS" EXACT ABBREVIATION [OMIM:603530] synonym: "light fixation seizure syndrome" EXACT [OMIM:603530] synonym: "M syndrome" RELATED [OMIM:603530] synonym: "MCAHS type 3" EXACT [Orphanet:369837] synonym: "MCAHS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615398] synonym: "multiple congenital anomalies-hypotonia-seizures syndrome 3" EXACT [MONDO:Lexical, OMIM:615398] synonym: "multiple congenital anomalies-hypotonia-seizures syndrome type 3" EXACT [DOID:0080140, MONDORULE:1, OMIM:615398] synonym: "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGT" EXACT [MONDO:design_pattern] synonym: "PIGT multiple congenital anomalies/dysmorphic syndrome-intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "PIGT-CDG" EXACT [Orphanet:369837] xref: DOID:0080140 {source="MONDO:equivalentTo"} xref: MESH:C566367 {source="MONDO:equivalentTo"} xref: OMIM:603530 {source="MONDO:equivalentObsolete"} xref: OMIM:615398 {source="DOID:0080140", source="MONDO:equivalentTo", source="Orphanet:369837", source="Orphanet:369837/e"} xref: Orphanet:369837 {source="MONDO:equivalentTo", source="OMIM:615398"} xref: UMLS:C1863767 {source="OMIM:603530", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C3809356 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615398"} is_a: MONDO:0017748 {source="Orphanet:369837"} ! inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation is_a: MONDO:0018292 {source="Orphanet:369837"} ! congenital disorder of glycosylation-related bone disorder is_a: MONDO:0100247 {source="MONDO:Redundant", source="Orphanet:369837"} ! multiple congenital anomalies-hypotonia-seizures syndrome property_value: exactMatch DOID:0080140 property_value: exactMatch http://identifiers.org/mesh/C566367 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863767 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809356 property_value: exactMatch https://omim.org/entry/615398 property_value: exactMatch Orphanet:369837 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:369837"} property_value: excluded_subClassOf MONDO:0019699 {source="Orphanet:369837"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6289 xsd:anyURI [Term] id: MONDO:0014166 name: paroxysmal nocturnal hemoglobinuria 2 def: "Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene." [MONDO:patterns/disease_series_by_gene] synonym: "paroxysmal nocturnal hemoglobinuria 2" EXACT [MONDO:Lexical, OMIM:615399] synonym: "paroxysmal nocturnal hemoglobinuria 2, autosomal dominant, somatic mutation" EXACT [OMIM:615399, OMIM:genemap2] synonym: "paroxysmal nocturnal hemoglobinuria caused by mutation in PIGT" EXACT [MONDO:design_pattern] synonym: "paroxysmal nocturnal hemoglobinuria type 2" EXACT [MONDORULE:1, OMIM:615399] synonym: "PIGT paroxysmal nocturnal hemoglobinuria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "PNH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615399] xref: OMIM:615399 {source="MONDO:equivalentTo"} xref: UMLS:C3809369 {source="OMIM:615399", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0100244 {source="DC-OMIM:615399", source="MONDO:Redundant", source="OMIM:615399"} ! paroxysmal nocturnal hemoglobinuria property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809369 property_value: exactMatch https://omim.org/entry/615399 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0014168 name: severe combined immunodeficiency due to CORO1A deficiency subset: ordo_disease {source="Orphanet:228003"} synonym: "coronin-1A deficiency" EXACT [MONDO:0000579] synonym: "IMD8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615401] synonym: "immunodeficiency 8" RELATED [MONDO:Lexical, OMIM:615401] synonym: "immunodeficiency type 8" EXACT [MONDORULE:1, OMIM:615401] synonym: "SCID due to CORO1A deficiency" EXACT [Orphanet:228003] synonym: "SCID due to coronin-1A deficiency" EXACT [Orphanet:228003] synonym: "severe combined immunodeficiency due to CORO1A deficiency" EXACT [] synonym: "severe combined immunodeficiency due to coronin-1A deficiency" EXACT [Orphanet:228003] xref: DOID:0060019 {source="MONDO:equivalentTo"} xref: OMIM:615401 {source="Orphanet:228003/e", source="MONDO:equivalentTo", source="Orphanet:228003"} xref: Orphanet:228003 {source="OMIM:615401", source="MONDO:equivalentTo"} xref: UMLS:C3809383 {source="OMIM:615401", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0044200 {source="Orphanet:228003", source="PMID:31953710"} ! T-B+ severe combined immunodeficiency property_value: exactMatch DOID:0060019 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809383 property_value: exactMatch https://omim.org/entry/615401 property_value: exactMatch Orphanet:228003 [Term] id: MONDO:0014175 name: mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive def: "An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy." [NCIT:C129977] synonym: "mitochondrial DNA depletion syndrome 12" EXACT [] synonym: "mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)" RELATED [MONDO:Lexical, OMIM:615418] synonym: "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR" EXACT [OMIM:615418, OMIM:genemap2] synonym: "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), AR" EXACT [OMIM:615418] synonym: "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive" EXACT [OMIM:615418] synonym: "mitochondrial DNA depletion syndrome type 12" RELATED [DOID:0080130, MONDORULE:2] synonym: "MTDPS12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615418] synonym: "MTDPS12B" EXACT ABBREVIATION [OMIM:615418] xref: DOID:0080130 {source="MONDO:directSiblingOf"} xref: DOID:0080335 {source="MONDO:equivalentTo"} xref: NCIT:C129977 {source="MONDO:equivalentTo"} xref: OMIM:615418 {source="DOID:0080130", source="MONDO:equivalentTo", source="DOID:0080335"} xref: UMLS:C4321247 {source="MONDO:equivalentTo"} is_a: MONDO:0018158 {source="DC-OMIM:615418", source="MONDO:Redundant", source="OMIM:615418"} ! mitochondrial DNA depletion syndrome property_value: exactMatch DOID:0080335 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4321247 property_value: exactMatch https://omim.org/entry/615418 property_value: exactMatch NCIT:C129977 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0014176 name: hypotonia, infantile, with psychomotor retardation and characteristic facies def: "A rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip)." [Orphanet:371364] subset: ordo_disease {source="Orphanet:371364"} subset: prototype_pattern synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies" EXACT [MONDO:Lexical, OMIM:615419] synonym: "hypotonia-speech impairment-severe cognitive delay syndrome" EXACT [MONDO:0018297] synonym: "IHPRF" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615419] synonym: "IHPRF syndrome" EXACT [Orphanet:371364] synonym: "infantile hypotonia-psychomotor retardation-characteristic facies syndrome" EXACT [Orphanet:371364] xref: OMIMPS:615419 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:371364 {source="MONDO:equivalentTo", source="OMIM:615419"} xref: UMLS:CN204877 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:371364"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:371364"} ! inherited neurodegenerative disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204877 property_value: exactMatch https://omim.org/phenotypicSeries/PS615419 property_value: exactMatch Orphanet:371364 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:371364"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0014180 name: epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency subset: ordo_disease {source="Orphanet:412181"} synonym: "DST-related epidermolysis bullosa simplex" EXACT [Orphanet:412181] synonym: "EBS-AR BP230" EXACT [Orphanet:412181] synonym: "EBSB2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615425] synonym: "epidermolysis bullosa simplex 3, localised or generalised intermediate, with bp230 deficiency" EXACT OMO:0003005 [] synonym: "epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency" EXACT [OMIM:615425, OMIM:genemap2] synonym: "epidermolysis bullosa simplex due to BP230 deficiency" EXACT [Orphanet:412181] synonym: "epidermolysis bullosa simplex, autosomal recessive 2" RELATED [MONDO:Lexical, OMIM:615425] synonym: "epidermolysis bullosa simplex, autosomal recessive type 2" EXACT [MONDORULE:1, OMIM:615425] xref: OMIM:615425 {source="MONDO:equivalentTo", source="Orphanet:412181", source="Orphanet:412181/e"} xref: Orphanet:412181 {source="OMIM:615425", source="MONDO:equivalentTo"} xref: UMLS:C3809470 {source="OMIM:615425", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0017610 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809470 property_value: exactMatch https://omim.org/entry/615425 property_value: exactMatch Orphanet:412181 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4499 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0014185 name: chromosome 3q13.31 deletion syndrome def: "3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present." [Orphanet:1621] subset: ordo_malformation_syndrome {source="Orphanet:1621"} synonym: "3q13 microdeletion syndrome" EXACT [DOID:0060418] synonym: "chromosome 3q13.31 deletion syndrome" EXACT [OMIM:615433] synonym: "Del(3)(q13)" EXACT [Orphanet:1621] synonym: "monosomy 3q13" EXACT [DOID:0060418, Orphanet:1621] xref: DOID:0060418 {source="MONDO:equivalentTo"} xref: MESH:C536808 {source="MONDO:equivalentTo", source="Orphanet:1621", source="DOID:0060418", source="Orphanet:1621/e"} xref: OMIM:615433 {source="MONDO:equivalentTo", source="Orphanet:1621", source="DOID:0060418", source="Orphanet:1621/e"} xref: Orphanet:1621 {source="OMIM:615433", source="MONDO:equivalentTo", source="DOID:0060418"} xref: SCTID:726705007 {source="MONDO:equivalentTo"} xref: UMLS:C3809490 {source="OMIM:615433", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:CN036884 {source="MONDO:equivalentTo"} is_a: MONDO:0016902 {source="Orphanet:1621"} ! partial deletion of the long arm of chromosome 3 property_value: exactMatch DOID:0060418 property_value: exactMatch http://identifiers.org/mesh/C536808 property_value: exactMatch http://identifiers.org/snomedct/726705007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809490 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN036884 property_value: exactMatch https://omim.org/entry/615433 property_value: exactMatch Orphanet:1621 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0014190 name: combined oxidative phosphorylation defect type 17 def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the ELAC2 gene." [MONDO:patterns/disease_series_by_gene] subset: clingen subset: ordo_disease {source="Orphanet:369913"} synonym: "combined oxidative phosphorylation deficiency 17" RELATED [MONDO:Lexical, OMIM:615440] synonym: "combined oxidative phosphorylation deficiency caused by mutation in ELAC2" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 17" EXACT [MONDORULE:2, OMIM:615440] synonym: "COXPD17" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615440, Orphanet:369913] synonym: "ELAC2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111496 {source="MONDO:equivalentTo"} xref: OMIM:615440 {source="MONDO:equivalentTo", source="Orphanet:369913", source="Orphanet:369913/e"} xref: Orphanet:369913 {source="MONDO:equivalentTo", source="OMIM:615440"} xref: UMLS:C3809526 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615440"} is_a: MONDO:0000732 {source="DC-OMIM:615440", source="MONDO:Redundant", source="OMIM:615440"} ! combined oxidative phosphorylation deficiency property_value: exactMatch DOID:0111496 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809526 property_value: exactMatch https://omim.org/entry/615440 property_value: exactMatch Orphanet:369913 [Term] id: MONDO:0014195 name: microcornea-myopic chorioretinal atrophy subset: ordo_disease {source="Orphanet:369970"} synonym: "microcornea, myopic chorioretinal atrophy, and telecanthus" RELATED [MONDO:Lexical, OMIM:615458] synonym: "microcornea-myopic chorioretinal atrophy" EXACT [] synonym: "microcornea-myopic chorioretinal atrophy-telecanthus syndrome" EXACT [https://github.com/monarch-initiative/mondo/issues/2900, https://orcid.org/0000-0002-5655-9589] synonym: "MMCAT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615458] synonym: "MMCAT syndrome" EXACT [Orphanet:369970] xref: OMIM:615458 {source="Orphanet:369970/e", source="MONDO:equivalentTo", source="Orphanet:369970"} xref: Orphanet:369970 {source="OMIM:615458", source="MONDO:equivalentTo"} xref: UMLS:C3809567 {source="OMIM:615458", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019118 {source="Orphanet:369970"} ! inherited retinal dystrophy is_a: MONDO:0020145 {source="Orphanet:369970"} ! developmental defect of the eye property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809567 property_value: exactMatch https://omim.org/entry/615458 property_value: exactMatch Orphanet:369970 [Term] id: MONDO:0014196 name: Hartsfield-Bixler-Demyer syndrome subset: ordo_malformation_syndrome {source="Orphanet:2117"} synonym: "HARTSFIELD syndrome" RELATED [MONDO:Lexical, OMIM:615465] synonym: "Hartsfield-Bixler-Demyer syndrome" EXACT [] synonym: "holoprosencephaly, ectrodactyly, and bilateral cleft Lip/palate" RELATED [OMIM:615465] synonym: "holoprosencephaly-ectrodactyly-cleft lip palate syndrome" EXACT [Orphanet:2117] synonym: "holoprosencephaly-ectrodactyly-cleft lip/palate syndrome" EXACT [Orphanet:2117] synonym: "HRTFDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615465] xref: MESH:C564484 {source="MONDO:equivalentTo"} xref: OMIM:615465 {source="MONDO:equivalentTo", source="Orphanet:2117", source="Orphanet:2117/e"} xref: Orphanet:2117 {source="OMIM:615465", source="MONDO:equivalentTo"} xref: SCTID:766032007 {source="MONDO:equivalentTo"} xref: UMLS:C1845146 {source="OMIM:615465", source="MONDO:equivalentTo", source="Orphanet:2117", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015159 {source="Orphanet:2117"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0800090 {source="PMID:31633310"} ! ectrodactyly with and without other manifestations property_value: exactMatch http://identifiers.org/mesh/C564484 property_value: exactMatch http://identifiers.org/snomedct/766032007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845146 property_value: exactMatch https://omim.org/entry/615465 property_value: exactMatch Orphanet:2117 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2117"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0014197 name: combined immunodeficiency due to MALT1 deficiency def: "Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections." [Orphanet:397964] subset: ordo_disease {source="Orphanet:397964"} synonym: "combined immunodeficiency due to MALT1 deficiency" EXACT [] synonym: "IMD12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615468] synonym: "immunodeficiency 12" RELATED [MONDO:Lexical, OMIM:615468] synonym: "immunodeficiency type 12" EXACT [MONDORULE:2, OMIM:615468] xref: DOID:0111988 {source="MONDO:equivalentTo"} xref: OMIM:615468 {source="MONDO:equivalentTo", source="Orphanet:397964", source="Orphanet:397964/e"} xref: Orphanet:397964 {source="OMIM:615468", source="MONDO:equivalentTo"} xref: UMLS:C3809583 {source="OMIM:615468", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0021094 {source="OMIM:615468"} ! immunodeficiency disease property_value: exactMatch DOID:0111988 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809583 property_value: exactMatch https://omim.org/entry/615468 property_value: exactMatch Orphanet:397964 property_value: excluded_subClassOf MONDO:0018814 {source="Orphanet:397964"} [Term] id: MONDO:0014198 name: mitochondrial DNA depletion syndrome 13 def: "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:369897"} synonym: "BXL4-related early-onset mitochondrial encephalopathy" RELATED [GARD:0013298] synonym: "encephalomyopathic mitochondrial DNA depletion syndrome-13" RELATED [GARD:0013298] synonym: "FBXL4 deficiency" RELATED [GARD:0013298] synonym: "FBXL4 mitochondrial DNA depletion syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome" RELATED [GARD:0013298] synonym: "mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)" RELATED [MONDO:Lexical, OMIM:615471] synonym: "mitochondrial DNA depletion syndrome caused by mutation in FBXL4" EXACT [MONDO:design_pattern] synonym: "mitochondrial DNA depletion syndrome type 13" EXACT [DOID:0080131, MONDORULE:2] synonym: "mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies" RELATED [Orphanet:369897] synonym: "mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies" EXACT [Orphanet:369897] synonym: "MTDPS13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615471] xref: DOID:0080131 {source="MONDO:equivalentTo"} xref: NCIT:C172095 {source="MONDO:equivalentTo"} xref: OMIM:615471 {source="DOID:0080131", source="Orphanet:369897", source="MONDO:equivalentTo", source="Orphanet:369897/e"} xref: Orphanet:369897 {source="MONDO:equivalentTo", source="OMIM:615471"} xref: SCTID:765403009 {source="MONDO:equivalentTo"} xref: UMLS:C3809592 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615471"} is_a: MONDO:0016796 {source="Orphanet:369897"} ! mitochondrial DNA depletion syndrome, encephalomyopathic form property_value: exactMatch DOID:0080131 property_value: exactMatch http://identifiers.org/snomedct/765403009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809592 property_value: exactMatch https://omim.org/entry/615471 property_value: exactMatch NCIT:C172095 property_value: exactMatch Orphanet:369897 [Term] id: MONDO:0014200 name: aldosterone-producing adenoma with seizures and neurological abnormalities subset: ordo_disease {source="Orphanet:369929"} synonym: "aldosterone-secreting adenoma" RELATED [Orphanet:85142] synonym: "aldosterone-secreting adenoma with seizures and neurological abnormalities" EXACT [Orphanet:369929] synonym: "aldosteronoma" RELATED [Orphanet:85142] synonym: "APA with seizures and neurological abnormalities" EXACT [Orphanet:369929] synonym: "Conn adenoma" RELATED [Orphanet:85142] synonym: "Conn adenoma with seizures and neurological abnormalities" EXACT [Orphanet:369929] synonym: "PASNA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615474] synonym: "primary aldosteronism due to Conn adenoma" RELATED [Orphanet:85142] synonym: "primary aldosteronism, seizures, and neurologic abnormalities" EXACT [MONDO:Lexical, OMIM:615474] xref: OMIM:615474 {source="Orphanet:369929/e", source="MONDO:equivalentTo", source="Orphanet:369929"} xref: Orphanet:369929 {source="MONDO:equivalentTo", source="OMIM:615474"} xref: Orphanet:85142 {source="MONDO:relatedTo"} xref: UMLS:C3809609 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615474"} is_a: MONDO:0016525 {source="Orphanet:369929"} ! familial hyperaldosteronism property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809609 property_value: exactMatch https://omim.org/entry/615474 property_value: exactMatch Orphanet:369929 property_value: relatedMatch Orphanet:85142 [Term] id: MONDO:0014201 name: developmental and epileptic encephalopathy, 18 subset: ordo_disease {source="Orphanet:369894"} synonym: "DEE18" EXACT ABBREVIATION [OMIM:615476] synonym: "developmental and epileptic encephalopathy 18" EXACT [OMIM:615476, OMIM:genemap2] synonym: "early infantile epileptic encephalopathy without suppression burst" EXACT [OMIM:615476] synonym: "EIEE18" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615476] synonym: "epileptic encephalopathy, early infantile, 18" EXACT [MONDO:Lexical, OMIM:615476] synonym: "epileptic encephalopathy, early infantile, type 18" EXACT [MONDORULE:2, OMIM:615476] xref: DOID:0080413 {source="MONDO:equivalentTo"} xref: OMIM:615476 {source="Orphanet:369894/e", source="MONDO:equivalentTo", source="Orphanet:369894"} xref: Orphanet:369894 {source="OMIM:615476", source="MONDO:equivalentObsolete"} xref: UMLS:C3809624 {source="OMIM:615476", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:369894"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020071 {source="Orphanet:369894"} ! infantile epilepsy syndrome is_a: MONDO:0100062 {source="DC-OMIM:615476", source="OMIM:615476"} ! developmental and epileptic encephalopathy property_value: exactMatch DOID:0080413 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809624 property_value: exactMatch https://omim.org/entry/615476 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0014205 name: severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome subset: ordo_disease {source="Orphanet:352577"} synonym: "BAINBRIDGE-ROPERS syndrome" RELATED [MONDO:Lexical, OMIM:615485] synonym: "Bainbridge-Roppers syndrome" EXACT [Orphanet:352577] synonym: "BRPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615485] synonym: "severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome" EXACT [] xref: DOID:0080893 {source="MONDO:equivalentTo"} xref: OMIM:615485 {source="MONDO:equivalentTo", source="Orphanet:352577", source="Orphanet:352577/e"} xref: Orphanet:352577 {source="MONDO:equivalentTo", source="OMIM:615485"} xref: UMLS:C3809650 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615485"} is_a: MONDO:0015159 {source="Orphanet:352577"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch DOID:0080893 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809650 property_value: exactMatch https://omim.org/entry/615485 property_value: exactMatch Orphanet:352577 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:352577"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0014206 name: severe early-onset pulmonary alveolar proteinosis due to MARS deficiency subset: ordo_disease {source="Orphanet:440427"} synonym: "hereditary pulmonary alveolar proteinosis with hepatic involvement" EXACT [Orphanet:440427] synonym: "ILLD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615486] synonym: "infantile liver failure syndrome 2" RELATED [OMIM:615486] synonym: "infantile liver failure syndrome 2, formerly" RELATED [OMIM:615486] synonym: "interstitial lung and liver disease" EXACT [MONDO:Lexical, OMIM:615486, Orphanet:440427] synonym: "PAP, Reunion island type" EXACT [Orphanet:440427] synonym: "pulmonary alveolar proteinosis, Reunion Island" RELATED [OMIM:615486] synonym: "pulmonary alveolar proteinosis, Reunion island type" EXACT [Orphanet:440427] xref: OMIM:615486 {source="Orphanet:440427/e", source="MONDO:equivalentTo", source="Orphanet:440427"} xref: Orphanet:370088 {source="MONDO:relatedTo", source="OMIM:615486"} xref: Orphanet:440427 {source="MONDO:equivalentTo"} xref: UMLS:C3809651 {source="MONDO:relatedTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615486"} xref: UMLS:C4225400 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5493-2602"} is_a: MONDO:0001437 {source="MONDO:cjm"} ! pulmonary alveolar proteinosis property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225400 property_value: exactMatch https://omim.org/entry/615486 property_value: exactMatch Orphanet:440427 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2420 xsd:anyURI property_value: relatedMatch http://linkedlifedata.com/resource/umls/id/C3809651 [Term] id: MONDO:0014208 name: Charcot-Marie-Tooth disease type 2R def: "Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the TRIM2 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0012451"} subset: ordo_disease {source="Orphanet:397968"} synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2R" EXACT [DOID:0110161] synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in TRIM2" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease type 2R" EXACT [] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2R" RELATED [GARD:0012451, OMIM:615490] synonym: "Charcot-Marie-Tooth disease, axonal, type 2R" RELATED [MONDO:Lexical, OMIM:615490] synonym: "Charcot-Marie-Tooth disease, type 2R" EXACT [OMIM:615490, OMIM:genemap2] synonym: "Charcot-Marie-Tooth neuropathy type 2R" EXACT [DOID:0110161] synonym: "Charcot-Marie-Tooth neuropathy, type 2R" RELATED [OMIM:615490] synonym: "CMT2R" EXACT ABBREVIATION [DOID:0110161, GARD:0012451, MONDO:Lexical, OMIM:615490, Orphanet:397968] synonym: "TRIM2 Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110161 {source="MONDO:equivalentTo"} xref: OMIM:615490 {source="Orphanet:397968/e", source="DOID:0110161", source="MONDO:equivalentTo", source="Orphanet:397968"} xref: Orphanet:397968 {source="DOID:0110161", source="MONDO:equivalentTo", source="OMIM:615490"} xref: UMLS:C3809655 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615490"} is_a: MONDO:0018993 {source="DOID:0110161", source="MONDO:Entailed", source="MONDO:Redundant"} ! Charcot-Marie-Tooth disease type 2 property_value: exactMatch DOID:0110161 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809655 property_value: exactMatch https://omim.org/entry/615490 property_value: exactMatch Orphanet:397968 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12451/charcot-marie-tooth-disease-type-2r xsd:anyURI {source="GARD:0012451"} [Term] id: MONDO:0014209 name: early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome def: "Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis." [Orphanet:352654] subset: ordo_disease {source="Orphanet:352654"} synonym: "NDGOA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615491] synonym: "neurodegeneration with optic atrophy, childhood-onset" RELATED [MONDO:Lexical, OMIM:615491] synonym: "spastic paraplegia 79, autosomal recessive" RELATED [OMIM:615491] synonym: "SPG79" RELATED ABBREVIATION [OMIM:615491] xref: DOID:0112344 {source="MONDO:equivalentTo"} xref: OMIM:615491 {source="MONDO:equivalentTo", source="Orphanet:352654", source="Orphanet:352654/e"} xref: Orphanet:352654 {source="MONDO:equivalentTo", source="OMIM:615491"} xref: UMLS:C3809665 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615491"} is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:615491"} ! hereditary spastic paraplegia property_value: exactMatch DOID:0112344 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809665 property_value: exactMatch https://omim.org/entry/615491 property_value: exactMatch Orphanet:352654 [Term] id: MONDO:0014210 name: intellectual disability-hypotonia-spasticity-sleep disorder syndrome subset: ordo_disease {source="Orphanet:356996"} synonym: "intellectual disability, autosomal recessive 37" RELATED [MONDO:Lexical, OMIM:615493] synonym: "intellectual disability, autosomal recessive type 37" EXACT [MONDORULE:2, OMIM:615493] synonym: "mental retardation, autosomal recessive 37" RELATED DEPRECATED [MONDO:Lexical, OMIM:615493] synonym: "mental retardation, autosomal recessive type 37" EXACT DEPRECATED [MONDORULE:2, OMIM:615493] synonym: "mental retardation, autosomal recessive, 37" EXACT [OMIM:615493, OMIM:genemap2] synonym: "MRT37" RELATED DEPRECATED [MONDO:Lexical, OMIM:615493] xref: DOID:0081202 {source="MONDO:equivalentTo"} xref: OMIM:615493 {source="Orphanet:356996", source="MONDO:equivalentTo", source="Orphanet:356996/e"} xref: Orphanet:356996 {source="MONDO:equivalentTo", source="OMIM:615493"} xref: UMLS:C3809672 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615493"} is_a: MONDO:0000508 {source="Orphanet:356996", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: exactMatch DOID:0081202 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809672 property_value: exactMatch https://omim.org/entry/615493 property_value: exactMatch Orphanet:356996 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0014212 name: sulfite oxidase deficiency due to molybdenum cofactor deficiency type C def: "A molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23." [DOID:0111166] subset: ordo_etiological_subtype {source="Orphanet:308400"} synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C" EXACT [DOID:0111166, Orphanet:308400] synonym: "MOCOD type C" EXACT [DOID:0111166, Orphanet:308400] synonym: "MOCODC" EXACT ABBREVIATION [DOID:0111166, MONDO:Lexical, OMIM:615501] synonym: "molybdenum cofactor deficiency C" EXACT [OMIM:615501, OMIM:genemap2] synonym: "molybdenum cofactor deficiency complementation group C" EXACT [DOID:0111166] synonym: "molybdenum cofactor deficiency type C" RELATED [DOID:0111166] synonym: "molybdenum cofactor deficiency, complementation group C" RELATED [MONDO:Lexical, OMIM:615501] synonym: "molybdenum cofactor deficiency, complementation group type C" EXACT [MONDORULE:1, OMIM:615501] xref: DOID:0111166 {source="MONDO:equivalentTo"} xref: MESH:C565374 {source="MONDO:equivalentTo"} xref: OMIM:615501 {source="Orphanet:308400/e", source="MONDO:equivalentTo", source="DOID:0111166", source="Orphanet:308400"} xref: Orphanet:308400 {source="OMIM:615501", source="MONDO:equivalentTo", source="DOID:0111166"} xref: PMID:11095995 {source="DOID:0111166"} xref: UMLS:C1854990 {source="OMIM:615501", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:0111166", source="Orphanet:308400"} is_a: MONDO:0020480 {source="DOID:0111166", source="OMIM:615501", source="Orphanet:308400"} ! sulfite oxidase deficiency due to molybdenum cofactor deficiency property_value: exactMatch DOID:0111166 property_value: exactMatch http://identifiers.org/mesh/C565374 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854990 property_value: exactMatch https://omim.org/entry/615501 property_value: exactMatch Orphanet:308400 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0014213 name: intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome subset: ordo_disease {source="Orphanet:363611"} synonym: "autosomal dominant intellectual disability 21" EXACT [DOID:0070051] synonym: "autosomal dominant mental retardation 21" EXACT DEPRECATED [DOID:0070051] synonym: "autosomal dominant non-syndromic intellectual disability 21" RELATED [DOID:0070051] synonym: "intellectual disability, autosomal dominant 21" RELATED [MONDO:Lexical, OMIM:615502] synonym: "intellectual disability, autosomal dominant type 21" EXACT [MONDORULE:2, OMIM:615502] synonym: "mental retardation, autosomal dominant 21" RELATED DEPRECATED [MONDO:Lexical, OMIM:615502] synonym: "mental retardation, autosomal dominant type 21" EXACT DEPRECATED [MONDORULE:2, OMIM:615502] synonym: "MRD21" EXACT ABBREVIATION [DOID:0070051, MONDO:Lexical, OMIM:615502] xref: DOID:0070051 {source="MONDO:equivalentTo"} xref: OMIM:615502 {source="MONDO:equivalentTo", source="Orphanet:363611", source="DOID:0070051", source="Orphanet:363611/e"} xref: Orphanet:363611 {source="OMIM:615502", source="MONDO:equivalentTo"} xref: UMLS:C3809686 {source="OMIM:615502", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:363611", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:363611"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0100172 ! intellectual disability, autosomal dominant property_value: exactMatch DOID:0070051 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809686 property_value: exactMatch https://omim.org/entry/615502 property_value: exactMatch Orphanet:363611 property_value: excluded_subClassOf MONDO:0015802 {source="DOID:0070051"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0014218 name: severe dermatitis-multiple allergies-metabolic wasting syndrome subset: ordo_disease {source="Orphanet:369992"} synonym: "congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome" EXACT [Orphanet:369992] synonym: "EPKHE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615508] synonym: "erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE" EXACT [OMIM:615508, OMIM:genemap2] synonym: "erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-IgE" RELATED [MONDO:Lexical, OMIM:615508] synonym: "SAM syndrome" EXACT [Orphanet:369992] synonym: "Sam syndrome" RELATED [OMIM:615508] synonym: "severe dermatitis, multiple allergies, and metabolic wasting syndrome" RELATED [OMIM:615508] xref: OMIM:615508 {source="Orphanet:369992/e", source="MONDO:equivalentTo", source="Orphanet:369992"} xref: Orphanet:369992 {source="MONDO:equivalentTo", source="OMIM:615508"} xref: UMLS:C3809719 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615508"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0020027"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809719 property_value: exactMatch https://omim.org/entry/615508 property_value: exactMatch Orphanet:369992 property_value: excluded_subClassOf MONDO:0005093 {source="MONDO:0019275-obsoleted"} property_value: excluded_subClassOf MONDO:0005271 {source="Orphanet:369992"} property_value: excluded_subClassOf MONDO:0018037 {source="Orphanet:369992"} property_value: excluded_subClassOf MONDO:0019268 {source="MONDO:0019274-obsoleted"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5682 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5914 xsd:anyURI [Term] id: MONDO:0014221 name: triosephosphate isomerase deficiency def: "Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration." [Orphanet:868] subset: gard_rare {source="GARD:0005287"} subset: ordo_disease {source="Orphanet:868"} synonym: "hemolytic anaemia due to triosephosphate isomerase deficiency" EXACT OMO:0003005 [] synonym: "hemolytic anemia due to triosephosphate isomerase deficiency" EXACT [OMIM:615512, OMIM:genemap2] synonym: "TPI deficiency" RELATED [GARD:0005287] synonym: "TPID" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615512] synonym: "triose phosphate-isomerase deficiency" EXACT [DOID:0050884] synonym: "triosephosphate isomerase deficiency" EXACT [MONDO:Lexical, OMIM:615512] xref: DOID:0050884 {source="MONDO:equivalentTo"} xref: ICD9:282.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C566029 {source="MONDO:equivalentTo"} xref: NCIT:C131652 {source="MONDO:equivalentTo"} xref: OMIM:615512 {source="DOID:0050884", source="MONDO:equivalentTo", source="Orphanet:868", source="Orphanet:868/e"} xref: Orphanet:868 {source="OMIM:615512", source="MONDO:equivalentTo"} xref: SCTID:234405009 {source="MONDO:equivalentTo"} xref: UMLS:C1860808 {source="OMIM:615512", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:868", source="NCIT:C131652"} is_a: EFO:0009406 {source="DOID:0050884"} ! glucose metabolism disease is_a: MONDO:0003689 ! familial hemolytic anemia is_a: MONDO:0017688 {source="MONDO:Redundant", source="Orphanet:868", source="PMID:33340416"} ! disorder of glycolysis is_a: MONDO:0020585 ! anemia due to erythrocyte enzyme disorder property_value: exactMatch DOID:0050884 property_value: exactMatch http://identifiers.org/mesh/C566029 property_value: exactMatch http://identifiers.org/snomedct/234405009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860808 property_value: exactMatch https://omim.org/entry/615512 property_value: exactMatch NCIT:C131652 property_value: exactMatch Orphanet:868 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5287/triosephosphate-isomerase-deficiency xsd:anyURI {source="GARD:0005287"} [Term] id: MONDO:0014224 name: developmental delay with autism spectrum disorder and gait instability def: "Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior." [Orphanet:329195] subset: ordo_disease {source="Orphanet:329195"} synonym: "developmental delay with ASD and gait instability" EXACT [Orphanet:329195] synonym: "intellectual developmental disorder, autosomal recessive 38" EXACT [OMIM:615516, OMIM:genemap2] synonym: "intellectual disability, autosomal recessive 38" RELATED [MONDO:Lexical, OMIM:615516] synonym: "intellectual disability, autosomal recessive type 38" EXACT [MONDORULE:2, OMIM:615516] synonym: "mental retardation, autosomal recessive 38" RELATED DEPRECATED [MONDO:Lexical, OMIM:615516] synonym: "mental retardation, autosomal recessive type 38" EXACT DEPRECATED [MONDORULE:2, OMIM:615516] synonym: "MRT38" RELATED DEPRECATED [MONDO:Lexical, OMIM:615516] xref: DOID:0081203 {source="MONDO:equivalentTo"} xref: OMIM:615516 {source="Orphanet:329195", source="MONDO:equivalentTo", source="Orphanet:329195/e"} xref: Orphanet:329195 {source="MONDO:equivalentTo", source="OMIM:615516"} xref: UMLS:C3809753 {source="MONDO:equivalentTo", source="OMIM:615516", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0010642 {source="https://orcid.org/0000-0001-5208-3432"} ! Neurodevelopmental disorder property_value: exactMatch DOID:0081203 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809753 property_value: exactMatch https://omim.org/entry/615516 property_value: exactMatch Orphanet:329195 property_value: excluded_subClassOf MONDO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/926"} property_value: excluded_subClassOf MONDO:0019502 {source="OMIM:615516"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0014225 name: hemochromatosis type 5 def: "Any hereditary hemochromatosis in which the cause of the disease is a mutation in the FTH1 gene." [MONDO:patterns/disease_series_by_gene] comment: Editor notes: ORDO treats this as two diseases subset: merged_class subset: ordo_disease {source="Orphanet:247790", source="Orphanet:447792"} synonym: "FTH1 hereditary hemochromatosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "FTH1-associated iron overload" EXACT [DOID:0111031, Orphanet:247790] synonym: "FTH1-related iron overload" EXACT [DOID:0111031] synonym: "hemochromatosis, type 5" RELATED [MONDO:Lexical, OMIM:615517] synonym: "hereditary hemochromatosis caused by mutation in FTH1" EXACT [MONDO:design_pattern] synonym: "HFE5" EXACT ABBREVIATION [DOID:0111031, MONDO:Lexical, OMIM:615517] synonym: "iron overload, autosomal dominant" RELATED [OMIM:615517] xref: DOID:0111031 {source="MONDO:equivalentTo"} xref: MESH:C565020 {source="MONDO:equivalentTo"} xref: OMIM:615517 {source="Orphanet:247790/e", source="MONDO:equivalentTo", source="DOID:0111031", source="Orphanet:247790"} xref: Orphanet:247790 {source="MONDO:equivalentTo", source="DOID:0111031", source="OMIM:615517"} xref: Orphanet:447792 {source="MONDO:equivalentObsolete"} xref: UMLS:C1851316 {source="MONDO:equivalentTo", source="OMIM:615517"} xref: UMLS:CN181217 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:CN237708 {source="MONDO:equivalentTo"} is_a: MONDO:0006507 {source="DOID:0111031", source="MONDO:Redundant", source="OMIM:615517", source="Orphanet:447792"} ! hereditary hemochromatosis relationship: has_characteristic MONDO:0021136 {source="MONDO:0016363"} ! rare property_value: exactMatch DOID:0111031 property_value: exactMatch http://identifiers.org/mesh/C565020 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851316 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN181217 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237708 property_value: exactMatch https://omim.org/entry/615517 property_value: exactMatch Orphanet:247790 [Term] id: MONDO:0014226 name: idiopathic CD4 lymphocytopenia def: "A rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/B5L on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed." [https://orcid.org/0000-0001-5208-3432, Orphanet:228000] subset: ordo_disease {source="Orphanet:228000"} synonym: "ICL" RELATED ABBREVIATION [GARD:0012375] synonym: "idiopathic Cd4 lymphopenia" RELATED [OMIM:615518] synonym: "idiopathic CD4 positive T-lymphocytopenia" RELATED [GARD:0012375] synonym: "IMD13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615518] synonym: "immunodeficiency 13" RELATED [MONDO:Lexical, OMIM:615518] synonym: "immunodeficiency type 13" EXACT [MONDORULE:2, OMIM:615518] xref: DOID:0111987 {source="MONDO:equivalentTo"} xref: OMIM:615518 {source="Orphanet:228000/e", source="MONDO:equivalentTo", source="Orphanet:228000"} xref: Orphanet:228000 {source="MONDO:equivalentTo", source="OMIM:615518"} xref: SCTID:763713000 {source="MONDO:equivalentTo"} xref: UMLS:C3809768 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615518"} is_a: MONDO:0021094 {source="OMIM:615518"} ! immunodeficiency disease is_a: MONDO:0700007 ! idiopathic disease property_value: exactMatch DOID:0111987 property_value: exactMatch http://identifiers.org/snomedct/763713000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809768 property_value: exactMatch https://omim.org/entry/615518 property_value: exactMatch Orphanet:228000 property_value: excluded_subClassOf MONDO:0018814 {source="Orphanet:228000"} [Term] id: MONDO:0014227 name: hypopigmentation-punctate palmoplantar keratoderma syndrome subset: ordo_disease {source="Orphanet:324561"} synonym: "COLE disease" RELATED [MONDO:Lexical, OMIM:615522] synonym: "Cole disease" EXACT [Orphanet:324561] synonym: "COLED" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615522] synonym: "guttate hypopigmentation" RELATED [GARD:0012384] synonym: "guttate hypopigmentation and punctate palmoplantar keratoderma" EXACT [Orphanet:324561] synonym: "guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification" RELATED [OMIM:615522] synonym: "hypopigmentation and punctate keratosis of the palms and soles" EXACT [Orphanet:324561] synonym: "punctate palmoplantar keratoderma with or without ectopic calcification" RELATED [GARD:0012384] xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:615522 {source="Orphanet:324561/e", source="MONDO:equivalentTo", source="Orphanet:324561"} xref: Orphanet:324561 {source="OMIM:615522", source="MONDO:equivalentTo"} xref: SCTID:711154007 {source="MONDO:equivalentTo"} xref: UMLS:C3809781 {source="OMIM:615522", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000426 {source="https://github.com/monarch-initiative/mondo/pull/2317"} ! autosomal dominant disease property_value: exactMatch http://identifiers.org/snomedct/711154007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809781 property_value: exactMatch https://omim.org/entry/615522 property_value: exactMatch Orphanet:324561 [Term] id: MONDO:0014234 name: reticulate acropigmentation of Kitamura def: "A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present." [DOID:0060258, PMID:22808308] subset: ordo_disease {source="Orphanet:178307"} synonym: "acropigmentatio reticularis" RELATED [OMIM:615537] synonym: "Kitamura reticulate acropigmentation" RELATED [OMIM:615537] synonym: "RAK" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615537] synonym: "RAPK" EXACT ABBREVIATION [DOID:0060258, Orphanet:178307] synonym: "reticulate acropigmentation of Kitamura" EXACT [MONDO:Lexical, OMIM:615537] synonym: "reticulate pigmentation of Kitamura" RELATED [OMIM:615537] xref: DOID:0060258 {source="MONDO:equivalentTo"} xref: ICD9:709.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562924 {source="DOID:0060258", source="MONDO:directSiblingOf"} xref: OMIM:615537 {source="Orphanet:178307/e", source="MONDO:equivalentTo", source="DOID:0060258", source="Orphanet:178307"} xref: Orphanet:178307 {source="MONDO:equivalentTo", source="DOID:0060258", source="OMIM:615537"} xref: SCTID:239133004 {source="MONDO:equivalentTo", source="DOID:0060258"} is_a: MONDO:0000118 {source="DC-OMIM:615537", source="OMIM:615537"} ! reticulate pigment disorder is_a: MONDO:0019289 {source="Orphanet:178307"} ! hyperpigmentation of the skin property_value: exactMatch DOID:0060258 property_value: exactMatch http://identifiers.org/snomedct/239133004 property_value: exactMatch https://omim.org/entry/615537 property_value: exactMatch Orphanet:178307 [Term] id: MONDO:0014238 name: severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome subset: ordo_malformation_syndrome {source="Orphanet:391307"} synonym: "intellectual disability, autosomal recessive 39" RELATED [MONDO:Lexical, OMIM:615541] synonym: "intellectual disability, autosomal recessive type 39" EXACT [MONDORULE:2, OMIM:615541] synonym: "mental retardation, autosomal recessive 39" RELATED DEPRECATED [MONDO:Lexical, OMIM:615541] synonym: "mental retardation, autosomal recessive type 39" EXACT DEPRECATED [MONDORULE:2, OMIM:615541] synonym: "MRT39" RELATED DEPRECATED [MONDO:Lexical, OMIM:615541] xref: DOID:0081204 {source="MONDO:equivalentTo"} xref: OMIM:615541 {source="Orphanet:391307", source="MONDO:equivalentTo", source="Orphanet:391307/e"} xref: Orphanet:391307 {source="MONDO:equivalentTo", source="OMIM:615541"} xref: UMLS:C3809853 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615541"} is_a: MONDO:0015159 {source="Orphanet:391307"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch DOID:0081204 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809853 property_value: exactMatch https://omim.org/entry/615541 property_value: exactMatch Orphanet:391307 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:391307"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0014243 name: Schaaf-Yang syndrome subset: ordo_etiological_subtype {source="Orphanet:398069"} synonym: "arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies" EXACT [MONDO:0008820, OMIM:208080] synonym: "arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies" EXACT DEPRECATED [OMIM:208080] synonym: "Chitayat-Hall syndrome" RELATED [GARD:0010087] synonym: "distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies" RELATED [GARD:0010087] synonym: "MAGEL2-related Prader-Willi-like syndrome" EXACT [Orphanet:398069] synonym: "MAGEL2-related PWLS" EXACT [Orphanet:398069] synonym: "Prader-Willi syndrome due to point mutation" RELATED DEPRECATED [Orphanet:398069] synonym: "Prader-Willi-like syndrome" RELATED [OMIM:615547] synonym: "PWS due to a point mutation" RELATED DEPRECATED [Orphanet:398069] synonym: "Schaaf-Yang syndrome" EXACT [MONDO:Lexical, OMIM:615547, Orphanet:398069, PMID:24076603] synonym: "SHFYNG" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615547] xref: DOID:0111715 {source="MONDO:equivalentTo"} xref: MESH:C535385 {source="MONDO:equivalentTo"} xref: OMIM:208080 {source="MONDO:equivalentObsolete"} xref: OMIM:615547 {source="Orphanet:398069", source="MONDO:equivalentTo", source="Orphanet:398069/e"} xref: Orphanet:398069 {source="OMIM:615547", source="MONDO:equivalentTo"} xref: UMLS:C1859724 {source="OMIM:208080", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C3809877 {source="OMIM:615547", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0008300 {source="Orphanet:398069"} ! Prader-Willi syndrome property_value: exactMatch DOID:0111715 property_value: exactMatch http://identifiers.org/mesh/C535385 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859724 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809877 property_value: exactMatch https://omim.org/entry/615547 property_value: exactMatch Orphanet:398069 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3338 xsd:anyURI [Term] id: MONDO:0014244 name: hereditary sensory and autonomic neuropathy type 7 def: "Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a genetic condition that causes the inability to feel pain, excessive sweating, and gastrointestinal issues. Gastrointestinal issues can cause failure to thrive, painful constipation, and diarrhea. The constipation is due to intestinal dysmotility, where the the muscles and nerves of the digestive system do not move food through the digestive tract like it should. Signs and symptoms of HSAN7 usually appear at birth or during infancy. The inability to feel pain often leads to repeated, severe injuries, including bone fractures and joint dislocations. People with HSAN7 may also heal slowly putting them at risk for further complications, such as infection. Excessive sweating may cause itching. Other features may include partial insensitivity to cold and hot temperatures, mild muscle weakness, and motor skill delays. HSAN7 is not known to affect learning or intelligence. Treatment of HSAN7 aims to prevent injury and treat gastrointestinal and orthopedic problems. HSAN7 is caused by a mutation in the SCN11A gene. People with HSAN7 have a 1 in 2 or 50% chance of passing the condition on to each of their children. This pattern of inheritance is called ' autosomal dominant.'" [https://rarediseases.info.nih.gov/diseases/12732/hereditary-sensory-and-autonomic-neuropathy-type-7] subset: gard_rare {source="GARD:0012732"} subset: ordo_disease {source="Orphanet:391397"} synonym: "autosomal dominant hereditary sensory and autonomic neuropathy caused by mutation in SCN11A" EXACT [MONDO:design_pattern] synonym: "CIP with hyperhidrosis and gastrointestinal dysfunction" EXACT [Orphanet:391397] synonym: "congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction" EXACT [Orphanet:391397] synonym: "hereditary sensory and autonomic neuropathy type VII" EXACT [DOID:0070149, Orphanet:391397] synonym: "hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction" EXACT [Orphanet:391397] synonym: "HSAN 7" RELATED [OMIM:615548] synonym: "HSAN VII" EXACT [NCIT:C125388] synonym: "HSAN with hyperhidrosis and gastrointestinal dysfunction" EXACT [Orphanet:391397] synonym: "HSAN7" EXACT ABBREVIATION [DOID:0070149, MONDO:Lexical, OMIM:615548, Orphanet:391397] synonym: "insensitivity to pain, congenital, with gastrointestinal dysfunction and hyperhidrosis" RELATED [OMIM:615548] synonym: "neuropathy, hereditary sensory and autonomic, type 7" RELATED [OMIM:615548] synonym: "neuropathy, hereditary sensory and autonomic, type VII" RELATED [GARD:0012732, MONDO:Lexical, OMIM:615548] synonym: "SCN11A autosomal dominant hereditary sensory and autonomic neuropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070149 {source="MONDO:equivalentTo"} xref: NCIT:C125388 {source="MONDO:equivalentTo"} xref: OMIM:615548 {source="MONDO:equivalentTo", source="DOID:0070149", source="Orphanet:391397", source="Orphanet:391397/e"} xref: Orphanet:391397 {source="MONDO:equivalentTo", source="OMIM:615548", source="DOID:0070149"} xref: UMLS:C3809882 {source="MONDO:equivalentTo", source="NCIT:C125388", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615548"} is_a: MONDO:0015365 {source="MONDO:Redundant", source="Orphanet:391397"} ! autosomal dominant hereditary sensory and autonomic neuropathy property_value: exactMatch DOID:0070149 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809882 property_value: exactMatch https://omim.org/entry/615548 property_value: exactMatch NCIT:C125388 property_value: exactMatch Orphanet:391397 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12732/hereditary-sensory-and-autonomic-neuropathy-type-7 xsd:anyURI {source="GARD:0012732"} [Term] id: MONDO:0014247 name: familial episodic pain syndrome with predominantly lower limb involvement def: "A rare, autosomal dominant disorder caused by mutation in the SCN11A gene. It is characterized by intense episodic pain mainly affecting the distal lower extremities in early childhood. The pain diminishes with age." [NCIT:C125390] subset: ordo_clinical_subtype {source="Orphanet:391392"} synonym: "episodic pain syndrome, familial, 3" RELATED [MONDO:Lexical, OMIM:615552] synonym: "episodic pain syndrome, familial, type 3" EXACT [MONDORULE:1, OMIM:615552] synonym: "FEPS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615552] xref: DOID:0111731 {source="MONDO:equivalentTo"} xref: NCIT:C125390 {source="MONDO:equivalentTo"} xref: OMIM:615552 {source="Orphanet:391392", source="MONDO:equivalentTo", source="Orphanet:391392/e"} xref: Orphanet:391392 {source="MONDO:equivalentTo", source="OMIM:615552"} xref: UMLS:C3809899 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615552", source="NCIT:C125390"} is_a: MONDO:0002254 {source="NCIT:C125390"} ! syndromic disease is_a: MONDO:0018319 {source="OMIM:615552", source="Orphanet:391392"} ! familial episodic pain syndrome property_value: exactMatch DOID:0111731 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809899 property_value: exactMatch https://omim.org/entry/615552 property_value: exactMatch NCIT:C125390 property_value: exactMatch Orphanet:391392 [Term] id: MONDO:0014248 name: autism spectrum disorder - epilepsy - arthrogryposis syndrome def: "SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21)." [Orphanet:370943] subset: ordo_disease {source="Orphanet:370943"} synonym: "AMRS" RELATED DEPRECATED [MONDO:Lexical, OMIM:615553] synonym: "arthrogryposis, impaired intellectual development, and seizures" EXACT [OMIM:615553, OMIM:genemap2] synonym: "arthrogryposis, intellectual disability, and seizures" RELATED [MONDO:Lexical, OMIM:615553] synonym: "arthrogryposis, mental retardation, and seizures" RELATED DEPRECATED [MONDO:Lexical, OMIM:615553] synonym: "SLC35A3-CDG" EXACT [Orphanet:370943] xref: OMIM:615553 {source="Orphanet:370943/e", source="MONDO:equivalentTo", source="Orphanet:370943"} xref: Orphanet:370943 {source="OMIM:615553", source="MONDO:equivalentTo"} xref: UMLS:C3809910 {source="OMIM:615553", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0017740 {source="Orphanet:370943"} ! disorder of protein N-glycosylation is_a: MONDO:0019942 {source="Orphanet:370943"} ! distal arthrogryposis property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809910 property_value: exactMatch https://omim.org/entry/615553 property_value: exactMatch Orphanet:370943 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0014250 name: familial hyperprolactinemia def: "Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple affected family members. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual disfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients." [Orphanet:397685] subset: ordo_disease {source="Orphanet:397685"} synonym: "familial hyperprolactinemia" EXACT [Orphanet:397685] synonym: "familial isolated prolactin receptor deficiency" EXACT [Orphanet:397685] synonym: "hereditary hyperprolactinemia (disease)" EXACT [MONDO:patterns/hereditary] synonym: "HPRL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615555] synonym: "hyperprolactinemia" RELATED [MONDO:Lexical, OMIM:615555] xref: ICD10CM:E22.1 {source="Orphanet:397685/attributed", source="Orphanet:397685/ntbt", source="MONDO:relatedTo", source="Orphanet:397685"} xref: OMIM:615555 {source="Orphanet:397685", source="MONDO:equivalentTo", source="Orphanet:397685/e"} xref: Orphanet:397685 {source="OMIM:615555", source="MONDO:equivalentTo"} xref: SCTID:763715007 {source="MONDO:equivalentTo"} xref: UMLS:C0020514 {source="MONDO:relatedTo", source="OMIM:615555", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0007319 ! hyperprolactinemia is_a: MONDO:0019052 ! inborn errors of metabolism intersection_of: EFO:0007319 ! hyperprolactinemia intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/snomedct/763715007 property_value: exactMatch https://omim.org/entry/615555 property_value: exactMatch Orphanet:397685 [Term] id: MONDO:0014252 name: familial hypobetalipoproteinemia 1 def: "Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the APOB gene." [MONDO:patterns/disease_series_by_gene] synonym: "acanthocytosis with hypobetalipoproteinemia" RELATED [OMIM:615558] synonym: "APOB hypobetalipoproteinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial hypobetalipoproteinemia 1" EXACT [] synonym: "familial hypobetalipoproteinemia type 1" EXACT [DOID:0111062, MONDORULE:1] synonym: "FHBL" RELATED ABBREVIATION [GARD:0002876] synonym: "FHBL1" EXACT ABBREVIATION [DOID:0111062, MONDO:Lexical, OMIM:615558] synonym: "hypobetalipoproteinemia" BROAD [OMIM:615558, OMIM:genemap2] synonym: "hypobetalipoproteinemia caused by mutation in APOB" EXACT [MONDO:design_pattern] synonym: "hypobetalipoproteinemia, familial" RELATED [OMIM:615558] synonym: "hypobetalipoproteinemia, familial, 1" RELATED [MONDO:Lexical, OMIM:615558] synonym: "hypobetalipoproteinemia, familial, type 1" EXACT [MONDORULE:1, OMIM:615558] synonym: "hypobetalipoproteinemia, Normotriglyceridemic" RELATED [OMIM:615558] xref: DOID:0111062 {source="MONDO:equivalentTo"} xref: MESH:C566267 {source="MONDO:equivalentTo"} xref: OMIM:615558 {source="MONDO:equivalentTo", source="DOID:0111062"} xref: SCTID:60193003 {source="MONDO:equivalentTo"} xref: UMLS:CN182502 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0017774 {source="DC-OMIM:615558", source="DOID:0111062", source="MESH:C566267/inferred", source="MONDO:Entailed", source="MONDO:Redundant"} ! hypobetalipoproteinemia property_value: exactMatch DOID:0111062 property_value: exactMatch http://identifiers.org/mesh/C566267 property_value: exactMatch http://identifiers.org/snomedct/60193003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN182502 property_value: exactMatch https://omim.org/entry/615558 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0014258 name: congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome subset: ordo_disease {source="Orphanet:391376"} synonym: "Asns deficiency" RELATED [OMIM:615574] synonym: "ASNSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615574] synonym: "asparagine synthetase deficiency" EXACT [MONDO:Lexical, OMIM:615574, Orphanet:391376] synonym: "congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome" EXACT [] xref: OMIM:615574 {source="MONDO:equivalentTo", source="Orphanet:391376", source="Orphanet:391376/e"} xref: Orphanet:391376 {source="MONDO:equivalentTo", source="OMIM:615574"} xref: UMLS:C3809971 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615574"} is_a: MONDO:0018318 {source="Orphanet:391376"} ! disorder of asparagine metabolism relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809971 property_value: exactMatch https://omim.org/entry/615574 property_value: exactMatch Orphanet:391376 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0014260 name: immunodeficiency, common variable, 10 def: "Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "common variable immunodeficiency caused by mutation in NFKB2" EXACT [MONDO:design_pattern] synonym: "CVID10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615577] synonym: "Deficit in anterior pituitary function and variable immunodeficiency" RELATED [OMIM:615577] synonym: "immunodeficiency, common variable, 10" EXACT [MONDO:Lexical, OMIM:615577] synonym: "immunodeficiency, common variable, type 10" EXACT [MONDORULE:2, OMIM:615577] synonym: "immunodeficiency, common variable, with central adrenal insufficiency" RELATED [OMIM:615577] synonym: "NFKB2 common variable immunodeficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081152 {source="MONDO:equivalentTo"} xref: OMIM:615577 {source="MONDO:equivalentTo"} xref: UMLS:C3809991 {source="OMIM:615577", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015517 {source="DC-OMIM:615577", source="MONDO:Redundant", source="OMIM:615577"} ! common variable immunodeficiency property_value: exactMatch DOID:0081152 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809991 property_value: exactMatch https://omim.org/entry/615577 [Term] id: MONDO:0014261 name: growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SFXN4 gene." [MONDO:design_pattern] subset: ordo_disease {source="Orphanet:391348"} synonym: "combined oxidative phosphorylation deficiency 18" RELATED [MONDO:Lexical, OMIM:615578] synonym: "combined oxidative phosphorylation deficiency caused by mutation in SFXN4" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 18" EXACT [MONDORULE:2, OMIM:615578] synonym: "COXPD18" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615578] synonym: "SFXN4 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111484 {source="MONDO:equivalentTo"} xref: OMIM:615578 {source="Orphanet:391348/e", source="MONDO:equivalentTo", source="Orphanet:391348"} xref: Orphanet:391348 {source="OMIM:615578", source="MONDO:equivalentTo"} xref: UMLS:C3810001 {source="OMIM:615578", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000732 {source="DC-OMIM:615578", source="MONDO:Redundant", source="OMIM:615578"} ! combined oxidative phosphorylation deficiency property_value: exactMatch DOID:0111484 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810001 property_value: exactMatch https://omim.org/entry/615578 property_value: exactMatch Orphanet:391348 [Term] id: MONDO:0014263 name: 8q24.3 microdeletion syndrome subset: ordo_malformation_syndrome synonym: "chromosome 8Q24.3 deletion syndrome" RELATED [OMIM:615583] synonym: "Verheij syndrome" EXACT [MONDO:Lexical, OMIM:615583] synonym: "VRJS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615583] xref: OMIM:615583 {source="MONDO:equivalentTo", source="Orphanet:508488"} xref: Orphanet:508488 {source="MONDO:equivalentTo"} xref: UMLS:C3810023 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615583"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: EFO:0003777 {source="MONDO:0015506-obsoleted"} ! heart disease is_a: MONDO:0015159 {source="Orphanet:508488"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0016907 {source="Orphanet:508488"} ! partial deletion of the long arm of chromosome 8 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810023 property_value: exactMatch https://omim.org/entry/615583 property_value: exactMatch Orphanet:508488 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0014267 name: severe combined immunodeficiency due to IKK2 deficiency def: "Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present." [Orphanet:397787] subset: ordo_disease {source="Orphanet:397787"} synonym: "IMD15" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615592] synonym: "immunodeficiency 15" RELATED [MONDO:Lexical, OMIM:615592] synonym: "immunodeficiency 15B" EXACT [OMIM:615592, OMIM:genemap2] synonym: "immunodeficiency type 15" EXACT [MONDORULE:2, OMIM:615592] synonym: "SCID due to IKK2 deficiency" EXACT [Orphanet:397787] xref: DOID:0111959 {source="MONDO:equivalentTo"} xref: OMIM:615592 {source="MONDO:equivalentTo", source="Orphanet:397787", source="Orphanet:397787/e"} xref: Orphanet:397787 {source="MONDO:equivalentTo", source="OMIM:615592"} xref: UMLS:C3810043 {source="MONDO:equivalentObsolete", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615592"} is_a: MONDO:0044201 {source="Orphanet:397787"} ! T+ B+ severe combined immunodeficiency property_value: exactMatch DOID:0111959 property_value: exactMatch https://omim.org/entry/615592 property_value: exactMatch Orphanet:397787 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0014268 name: combined immunodeficiency due to OX40 deficiency def: "Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma." [Orphanet:431149] subset: ordo_disease {source="Orphanet:431149"} synonym: "combined immunodeficiency with childhood-onset Kaposi sarcoma" EXACT [Orphanet:431149] synonym: "combined immunodeficiency with impaired immunity to HHV-8" EXACT [Orphanet:431149] synonym: "combined immunodeficiency with impaired immunity to human herpes virus 8" EXACT [Orphanet:431149] synonym: "IMD16" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615593] synonym: "immunodeficiency 16" RELATED [MONDO:Lexical, OMIM:615593] synonym: "immunodeficiency type 16" EXACT [MONDORULE:2, OMIM:615593] synonym: "OX40 deficiency" RELATED [OMIM:615593] xref: DOID:0111935 {source="MONDO:equivalentTo"} xref: OMIM:615593 {source="MONDO:equivalentTo", source="Orphanet:431149", source="Orphanet:431149/e"} xref: Orphanet:431149 {source="MONDO:equivalentTo", source="OMIM:615593"} xref: SCTID:766879006 {source="MONDO:equivalentTo"} xref: UMLS:C3810053 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615593"} is_a: MONDO:0021094 {source="OMIM:615593"} ! immunodeficiency disease property_value: exactMatch DOID:0111935 property_value: exactMatch http://identifiers.org/snomedct/766879006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810053 property_value: exactMatch https://omim.org/entry/615593 property_value: exactMatch Orphanet:431149 property_value: excluded_subClassOf MONDO:0015356 {source="Orphanet:431149"} property_value: excluded_subClassOf MONDO:0018814 {source="Orphanet:431149"} [Term] id: MONDO:0014270 name: STT3A-congenital disorder of glycosylation def: "STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3)." [Orphanet:370921] subset: ordo_disease {source="Orphanet:370921"} synonym: "CDG Iw" RELATED [OMIM:615596] synonym: "CDG syndrome type Iw" EXACT [Orphanet:370921] synonym: "CDG-Iw" EXACT [Orphanet:370921] synonym: "CDG1W" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615596, Orphanet:370921] synonym: "congenital disorder of glycosylation type 1w" EXACT [Orphanet:370921] synonym: "congenital disorder of glycosylation type Iw" EXACT [Orphanet:370921] synonym: "congenital disorder of glycosylation, type Iw" RELATED [MONDO:Lexical, OMIM:615596] synonym: "congenital disorder of glycosylation, type Iw, autosomal recessive" EXACT [OMIM:615596, OMIM:genemap2] synonym: "STT3A-CDG" EXACT ABBREVIATION [Orphanet:370921] synonym: "STT3A-congenital disorder of glycosylation" EXACT [] xref: DOID:0080572 {source="MONDO:equivalentTo"} xref: OMIM:615596 {source="Orphanet:370921/e", source="MONDO:equivalentTo", source="Orphanet:370921"} xref: Orphanet:370921 {source="MONDO:equivalentTo", source="OMIM:615596"} xref: SCTID:733111000 {source="MONDO:equivalentTo"} xref: UMLS:C3810062 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615596"} is_a: EFO:0005545 {source="DC-OMIM:615596"} ! congenital disorder of glycosylation type I is_a: MONDO:0017740 {source="Orphanet:370921"} ! disorder of protein N-glycosylation property_value: exactMatch DOID:0080572 property_value: exactMatch http://identifiers.org/snomedct/733111000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810062 property_value: exactMatch https://omim.org/entry/615596 property_value: exactMatch Orphanet:370921 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0014271 name: STT3B-congenital disorder of glycosylation def: "STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1)." [Orphanet:370924] subset: ordo_disease {source="Orphanet:370924"} synonym: "carbohydrate deficient glycoprotein syndrome type IX" EXACT [Orphanet:370924] synonym: "CDG IX" RELATED [OMIM:615597] synonym: "CDG syndrome type IX" EXACT [Orphanet:370924] synonym: "CDG-Ix" EXACT [Orphanet:370924] synonym: "CDG1X" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615597, Orphanet:370924] synonym: "congenital disorder of glycosylation type 1x" EXACT [Orphanet:370924] synonym: "congenital disorder of glycosylation type IX" EXACT [Orphanet:370924] synonym: "congenital disorder of glycosylation, type IX" RELATED [MONDO:Lexical, OMIM:615597] synonym: "STT3B-CDG" EXACT ABBREVIATION [Orphanet:370924] synonym: "STT3B-congenital disorder of glycosylation" EXACT [] xref: DOID:0080573 {source="MONDO:equivalentTo"} xref: MESH:C535751 {source="MONDO:equivalentTo"} xref: OMIM:615597 {source="Orphanet:370924", source="MONDO:equivalentTo", source="Orphanet:370924/e"} xref: Orphanet:370924 {source="OMIM:615597", source="MONDO:equivalentTo"} xref: SCTID:733112007 {source="MONDO:equivalentTo"} xref: UMLS:C2931007 {source="Orphanet:370924", source="MONDO:equivalentTo"} is_a: EFO:0005545 {source="DC-OMIM:615597"} ! congenital disorder of glycosylation type I is_a: MONDO:0017740 {source="Orphanet:370924"} ! disorder of protein N-glycosylation property_value: exactMatch DOID:0080573 property_value: exactMatch http://identifiers.org/mesh/C535751 property_value: exactMatch http://identifiers.org/snomedct/733112007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931007 property_value: exactMatch https://omim.org/entry/615597 property_value: exactMatch Orphanet:370924 [Term] id: MONDO:0014272 name: palmoplantar keratoderma, Nagashima type def: "Keratosis, Nagashima-type is a transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda." [Orphanet:140966] subset: ordo_disease {source="Orphanet:140966"} synonym: "palmoplantar hyperkeratosis, Nagashima type" EXACT [Orphanet:140966] synonym: "palmoplantar keratoderma, Nagashima type" EXACT [MONDO:Lexical, OMIM:615598] synonym: "PPK, Nagashima type" EXACT [Orphanet:140966] synonym: "PPKN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615598] xref: OMIM:615598 {source="Orphanet:140966/e", source="MONDO:equivalentTo", source="Orphanet:140966"} xref: Orphanet:140966 {source="OMIM:615598", source="MONDO:equivalentTo"} xref: SCTID:722205008 {source="MONDO:equivalentTo"} xref: UMLS:C3810072 {source="OMIM:615598", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0020096 {source="Orphanet:140966"} ! autosomal recessive isolated diffuse palmoplantar keratoderma property_value: exactMatch http://identifiers.org/snomedct/722205008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810072 property_value: exactMatch https://omim.org/entry/615598 property_value: exactMatch Orphanet:140966 property_value: excluded_subClassOf MONDO:0006588 {source="DC-OMIM:615598"} [Term] id: MONDO:0014273 name: microcephaly-thin corpus callosum-intellectual disability syndrome def: "Microcephaly-thin corpus callosum-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated." [Orphanet:397951] subset: ordo_disease {source="Orphanet:397951"} synonym: "intellectual developmental disorder, autosomal recessive 40" EXACT [OMIM:615599, OMIM:genemap2] synonym: "intellectual disability, autosomal recessive 40" RELATED [MONDO:Lexical, OMIM:615599] synonym: "intellectual disability, autosomal recessive type 40" EXACT [MONDORULE:2, OMIM:615599] synonym: "mental retardation, autosomal recessive 40" RELATED DEPRECATED [MONDO:Lexical, OMIM:615599] synonym: "mental retardation, autosomal recessive type 40" EXACT DEPRECATED [MONDORULE:2, OMIM:615599] synonym: "microcephaly-thin corpus callosum-intellectual disability syndrome" EXACT [] synonym: "MRT40" RELATED DEPRECATED [MONDO:Lexical, OMIM:615599] xref: DOID:0081205 {source="MONDO:equivalentTo"} xref: OMIM:615599 {source="MONDO:equivalentTo", source="Orphanet:397951", source="Orphanet:397951/e"} xref: Orphanet:397951 {source="OMIM:615599", source="MONDO:equivalentTo"} xref: UMLS:C3810080 {source="OMIM:615599", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015159 {source="Orphanet:397951"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch DOID:0081205 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810080 property_value: exactMatch https://omim.org/entry/615599 property_value: exactMatch Orphanet:397951 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:397951"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0014274 name: L-ferritin deficiency subset: ordo_biological_anomaly {source="Orphanet:440731"} synonym: "L-ferritin deficiency" EXACT [MONDO:Lexical, OMIM:615604] synonym: "L-ferritin deficiency, dominant and recessive" EXACT [OMIM:615604, OMIM:genemap2] synonym: "LFTD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615604] xref: OMIM:615604 {source="MONDO:equivalentTo", source="Orphanet:440731", source="Orphanet:440731/e"} xref: Orphanet:440731 {source="MONDO:equivalentTo"} xref: UMLS:C3810090 {source="MONDO:equivalentTo", source="OMIM:615604", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0005803 {source="Orphanet:440731"} ! hematologic disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810090 property_value: exactMatch https://omim.org/entry/615604 property_value: exactMatch Orphanet:440731 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0014276 name: combined immunodeficiency due to CD3gamma deficiency def: "Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations." [Orphanet:169082] subset: gard_rare subset: ordo_disease {source="Orphanet:169082"} synonym: "CD3 deficiency" EXACT [GARD:0009521] synonym: "CD3-gamma deficiency" EXACT [OMIM:615607] synonym: "CD3gamma deficiency" EXACT [MONDO:0000578] synonym: "combined immunodeficiency due to CD3gamma deficiency" EXACT [] synonym: "IMD17" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615607] synonym: "immunodeficiency 17" EXACT [MONDO:Lexical, OMIM:615607] synonym: "immunodeficiency 17, CD3 gamma deficient" EXACT [OMIM:615607, OMIM:genemap2] synonym: "immunodeficiency type 17" EXACT [MONDORULE:2, OMIM:615607] synonym: "SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive" EXACT [OMIM:615607] xref: DOID:0060018 {source="MONDO:equivalentTo"} xref: DOID:0111973 {source="MONDO:equivalentTo"} xref: OMIM:615607 {source="MONDO:equivalentTo", source="Orphanet:169082", source="Orphanet:169082/e"} xref: Orphanet:169082 {source="MONDO:equivalentTo", source="OMIM:615607"} xref: SCTID:725135004 {source="MONDO:equivalentTo"} xref: UMLS:C3810107 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615607"} xref: UMLS:C4510864 {source="MONDO:equivalentTo"} is_a: MONDO:0021094 {source="OMIM:615607"} ! immunodeficiency disease property_value: exactMatch DOID:0060018 property_value: exactMatch DOID:0111973 property_value: exactMatch http://identifiers.org/snomedct/725135004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810107 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510864 property_value: exactMatch https://omim.org/entry/615607 property_value: exactMatch Orphanet:169082 property_value: excluded_subClassOf MONDO:0015974 {source="DOID:0060018", source="https://github.com/monarch-initiative/mondo-build/issues/108"} property_value: excluded_subClassOf MONDO:0018814 {source="Orphanet:169082"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9521/cd3-deficiency xsd:anyURI {source="GARD:0009521"} [Term] id: MONDO:0014278 name: immunodeficiency 18 def: "Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18." [PMID:15546002] synonym: "CD3-Epsilon deficiency" EXACT [OMIM:615615] synonym: "IMD18" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615615] synonym: "immunodeficiency 18" EXACT [MONDO:Lexical, OMIM:615615] synonym: "immunodeficiency 18, SCID variant" EXACT [OMIM:615615] synonym: "immunodeficiency 18, Severe combined immunodeficiency variant" EXACT [OMIM:615615] synonym: "immunodeficiency type 18" EXACT [MONDORULE:2, OMIM:615615] xref: DOID:0060017 {source="MONDO:equivalentTo"} xref: DOID:0111971 {source="MONDO:equivalentTo"} xref: OMIM:615615 {source="MONDO:equivalentTo"} xref: UMLS:C3810127 {source="MONDO:equivalentTo", source="OMIM:615615", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015703 {source="MONDO:cjm", source="Orphanet:169160/btnt"} ! T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta is_a: MONDO:0031520 {source="DOID:0060017"} ! familial severe combined immunodeficiency property_value: exactMatch DOID:0060017 property_value: exactMatch DOID:0111971 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810127 property_value: exactMatch https://omim.org/entry/615615 [Term] id: MONDO:0014282 name: hereditary spastic paraplegia 72 def: "Any pure hereditary spastic paraplegia in which the cause of the disease is a mutation in the REEP2 gene." [MONDO:patterns/disease_series_by_gene] comment: Editor note: This class covers either AD or AR. in ORDO this is classified as *both* AD and AR. This would cause inconsistencies here, so we are neutral about the inheritance subset: ordo_disease {source="Orphanet:401849"} subset: ordo_inheritance_inconsistent synonym: "autosomal spastic paraplegia type 72" EXACT [DOID:0110817] synonym: "hereditary spastic paraplegia type 72" EXACT [DOID:0110817, MONDORULE:2] synonym: "pure hereditary spastic paraplegia caused by mutation in REEP2" EXACT [MONDO:design_pattern] synonym: "REEP2 pure hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "spastic paraplegia 72, autosomal dominant" NARROW [OMIM:615625, OMIM:genemap2] synonym: "spastic paraplegia 72, autosomal recessive" NARROW [OMIM:615625, OMIM:genemap2] synonym: "SPG72" EXACT ABBREVIATION [DOID:0110817, OMIM:615625, Orphanet:401849] xref: DOID:0110817 {source="MONDO:equivalentTo"} xref: OMIM:615625 {source="Orphanet:401849/e", source="MONDO:equivalentTo", source="DOID:0110817", source="Orphanet:401849"} xref: Orphanet:401849 {source="MONDO:equivalentTo", source="OMIM:615625", source="DOID:0110817"} xref: UMLS:C3810160 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615625"} is_a: MONDO:0015149 {source="MONDO:Redundant", source="MONDO:cjm", source="Orphanet:401849/inferred"} ! pure hereditary spastic paraplegia property_value: exactMatch DOID:0110817 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810160 property_value: exactMatch https://omim.org/entry/615625 property_value: exactMatch Orphanet:401849 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0014284 name: short-rib thoracic dysplasia 10 with or without polydactyly def: "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23." [DOID:0110091, PMID:24140113] synonym: "short-rib thoracic dysplasia 10 with or without polydactyly" EXACT [MONDO:Lexical, OMIM:615630] synonym: "SRTD10" EXACT ABBREVIATION [DOID:0110091, MONDO:Lexical, OMIM:615630] xref: DOID:0110091 {source="MONDO:equivalentTo"} xref: OMIM:615630 {source="DOID:0110091", source="MONDO:equivalentTo"} xref: UMLS:C3810175 {source="OMIM:615630", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018770 {source="DOID:0110091", source="OMIM:615630"} ! Jeune syndrome property_value: exactMatch DOID:0110091 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810175 property_value: exactMatch https://omim.org/entry/615630 [Term] id: MONDO:0014286 name: neuropathy, hereditary sensory, type 1F def: "Any hereditary sensory and autonomic neuropathy type 1 in which the cause of the disease is a mutation in the ATL3 gene." [MONDO:patterns/disease_series_by_gene] synonym: "ATL3 hereditary sensory and autonomic neuropathy type 1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary sensory and autonomic neuropathy type 1 caused by mutation in ATL3" EXACT [MONDO:design_pattern] synonym: "hereditary sensory neuropathy type 1F" RELATED [DOID:0070154] synonym: "hereditary sensory neuropathy type IF" EXACT [DOID:0070154] synonym: "HSN 1F" RELATED [OMIM:615632] synonym: "HSN1F" EXACT ABBREVIATION [DOID:0070154, MONDO:Lexical, OMIM:615632] synonym: "neuropathy, hereditary sensory, type 1F" EXACT [] synonym: "neuropathy, hereditary sensory, type IF" RELATED [MONDO:Lexical, OMIM:615632] xref: DOID:0070154 {source="MONDO:equivalentTo"} xref: OMIM:615632 {source="DOID:0070154", source="MONDO:equivalentTo"} xref: UMLS:C3810194 {source="OMIM:615632", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018213 {source="DOID:0070154", source="MONDO:Redundant", source="Orphanet:36386/btnt"} ! hereditary sensory and autonomic neuropathy type 1 property_value: exactMatch DOID:0070154 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810194 property_value: exactMatch https://omim.org/entry/615632 [Term] id: MONDO:0014289 name: macrocephaly-developmental delay syndrome def: "Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegally." [Orphanet:397612] subset: ordo_malformation_syndrome {source="Orphanet:397612"} synonym: "intellectual disability, autosomal recessive 41" RELATED [MONDO:Lexical, OMIM:615637] synonym: "intellectual disability, autosomal recessive type 41" EXACT [MONDORULE:2, OMIM:615637] synonym: "mental retardation, autosomal recessive 41" RELATED DEPRECATED [MONDO:Lexical, OMIM:615637] synonym: "mental retardation, autosomal recessive type 41" EXACT DEPRECATED [MONDORULE:2, OMIM:615637] synonym: "MRT41" RELATED DEPRECATED [MONDO:Lexical, OMIM:615637] xref: DOID:0081206 {source="MONDO:equivalentTo"} xref: OMIM:615637 {source="MONDO:equivalentTo", source="Orphanet:397612", source="Orphanet:397612/e"} xref: Orphanet:397612 {source="MONDO:equivalentTo", source="OMIM:615637"} xref: UMLS:C3810225 {source="MONDO:equivalentTo", source="OMIM:615637", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015159 {source="Orphanet:397612"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch DOID:0081206 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810225 property_value: exactMatch https://omim.org/entry/615637 property_value: exactMatch Orphanet:397612 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:397612"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0014290 name: neurodegeneration with brain iron accumulation 6 def: "COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder." [Orphanet:397725] subset: ordo_disease {source="Orphanet:397725"} synonym: "COASY neurodegeneration with brain iron accumulation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "COASY protein-associated neurodegeneration" RELATED [Orphanet:397725] synonym: "CoPAN" EXACT [DOID:0110740, Orphanet:397725] synonym: "NBIA6" EXACT ABBREVIATION [DOID:0110740, MONDO:Lexical, OMIM:615643, Orphanet:397725] synonym: "neurodegeneration with brain iron accumulation 6" EXACT [MONDO:Lexical, OMIM:615643] synonym: "neurodegeneration with brain iron accumulation caused by mutation in COASY" EXACT [MONDO:design_pattern] synonym: "neurodegeneration with brain iron accumulation due to COASY mutation" EXACT [DOID:0110740, Orphanet:397725] synonym: "neurodegeneration with brain iron accumulation type 6" EXACT [DOID:0110740, MONDORULE:1, OMIM:615643] xref: DOID:0110740 {source="MONDO:equivalentTo"} xref: OMIM:615643 {source="Orphanet:397725/e", source="MONDO:equivalentTo", source="Orphanet:397725", source="DOID:0110740"} xref: Orphanet:397725 {source="OMIM:615643", source="MONDO:equivalentTo", source="DOID:0110740"} xref: SCTID:732264002 {source="MONDO:equivalentTo"} xref: UMLS:C3810230 {source="OMIM:615643", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018307 {source="DC-OMIM:615643", source="DOID:0110740", source="MONDO:Redundant", source="OMIM:615643", source="Orphanet:397725"} ! neurodegeneration with brain iron accumulation property_value: exactMatch DOID:0110740 property_value: exactMatch http://identifiers.org/snomedct/732264002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810230 property_value: exactMatch https://omim.org/entry/615643 property_value: exactMatch Orphanet:397725 [Term] id: MONDO:0014292 name: leukoencephalopathy with mild cerebellar ataxia and white matter edema subset: ordo_disease {source="Orphanet:363540"} synonym: "leukoencephalopathy with ataxia" RELATED [MONDO:Lexical, OMIM:615651] synonym: "LKPAT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615651] xref: NCIT:C171603 {source="MONDO:equivalentTo"} xref: OMIM:615651 {source="Orphanet:363540", source="MONDO:equivalentTo", source="Orphanet:363540/e"} xref: Orphanet:363540 {source="MONDO:equivalentTo", source="OMIM:615651"} xref: SCTID:768663003 {source="MONDO:equivalentTo"} xref: UMLS:C3810242 {source="MONDO:equivalentObsolete", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615651"} is_a: MONDO:0019046 {source="Orphanet:363540"} ! leukodystrophy property_value: exactMatch http://identifiers.org/snomedct/768663003 property_value: exactMatch https://omim.org/entry/615651 property_value: exactMatch NCIT:C171603 property_value: exactMatch Orphanet:363540 [Term] id: MONDO:0014294 name: chromosome 15q11.2 deletion syndrome def: "15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia)." [Orphanet:261183] subset: ordo_malformation_syndrome {source="Orphanet:261183"} synonym: "15q11.2 BP1-BP2 microdeletion syndrome" EXACT [Orphanet:261183] synonym: "15q11.2 microdeletion" RELATED [GARD:0010525] synonym: "15q11.2 microdeletion syndrome" EXACT [DOID:0060393] synonym: "chromosome 15q11.2 deletion" RELATED [GARD:0010525] synonym: "chromosome 15q11.2 deletion syndrome" EXACT [OMIM:615656] synonym: "chromosome 15q11.2 microdeletion" RELATED [GARD:0010525] synonym: "Del(15)(q11.2)" EXACT [Orphanet:261183] synonym: "monosomy 15q11.2" EXACT [Orphanet:261183] xref: DOID:0060393 {source="MONDO:equivalentTo"} xref: OMIM:615656 {source="Orphanet:261183", source="MONDO:equivalentTo", source="Orphanet:261183/e", source="DOID:0060393"} xref: Orphanet:261183 {source="OMIM:615656", source="MONDO:equivalentTo", source="DOID:0060393"} xref: UMLS:C3180937 {source="Orphanet:261183", source="MONDO:equivalentTo", source="Orphanet:261183/e", source="DOID:0060393"} is_a: MONDO:0016913 {source="Orphanet:261183"} ! partial deletion of the long arm of chromosome 15 property_value: exactMatch DOID:0060393 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3180937 property_value: exactMatch https://omim.org/entry/615656 property_value: exactMatch Orphanet:261183 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0014300 name: proximal myopathy with extrapyramidal signs def: "Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy." [Orphanet:401768] subset: ordo_disease {source="Orphanet:401768"} synonym: "MPXPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615673] synonym: "myopathy with extrapyramidal signs" RELATED [MONDO:Lexical, OMIM:615673] xref: DOID:0111335 {source="MONDO:equivalentTo"} xref: OMIM:615673 {source="MONDO:equivalentTo", source="Orphanet:401768", source="Orphanet:401768/e"} xref: Orphanet:401768 {source="MONDO:equivalentTo", source="OMIM:615673"} xref: UMLS:C3810285 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615673"} is_a: EFO:0004145 {source="https://orcid.org/0000-0001-5208-3432"} ! myopathy is_a: EFO:0004280 ! movement disorder relationship: disease_arises_from_feature EFO:0005772 ! neurodegenerative disease relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch DOID:0111335 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810285 property_value: exactMatch https://omim.org/entry/615673 property_value: exactMatch Orphanet:401768 [Term] id: MONDO:0014302 name: hereditary spastic paraplegia 62 def: "Autosomal recessive spastic paraplegia type 62 is a pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some." [Orphanet:401785] subset: ordo_disease {source="Orphanet:401785"} synonym: "autosomal recessive pure spastic paraplegia caused by mutation in ERLIN1" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 62" EXACT [DOID:0110813] synonym: "autosomal recessive spastic paraplegia type 62" EXACT [DOID:0110813] synonym: "ERLIN1 autosomal recessive pure spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary spastic paraplegia type 62" EXACT [DOID:0110813, MONDORULE:2] synonym: "spastic paraplegia 62, autosomal recessive" EXACT [OMIM:615681] synonym: "SPG62" EXACT ABBREVIATION [DOID:0110813, OMIM:615681, Orphanet:401785] xref: DOID:0110813 {source="MONDO:equivalentTo"} xref: OMIM:615681 {source="Orphanet:401785", source="DOID:0110813", source="MONDO:equivalentTo", source="Orphanet:401785/e"} xref: Orphanet:401785 {source="DOID:0110813", source="MONDO:equivalentTo"} xref: SCTID:765045003 {source="MONDO:equivalentTo"} xref: UMLS:C4284588 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015090 {source="MONDO:Redundant", source="Orphanet:401785"} ! autosomal recessive pure spastic paraplegia property_value: exactMatch DOID:0110813 property_value: exactMatch http://identifiers.org/snomedct/765045003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4284588 property_value: exactMatch https://omim.org/entry/615681 property_value: exactMatch Orphanet:401785 [Term] id: MONDO:0014303 name: hereditary spastic paraplegia 64 def: "An extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1." [Orphanet:401810] subset: ordo_disease {source="Orphanet:401810"} synonym: "autosomal recessive complex spastic paraplegia caused by mutation in ENTPD1" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 64" EXACT [DOID:0110815] synonym: "autosomal recessive spastic paraplegia type 64" EXACT [DOID:0110815] synonym: "ENTPD1 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary spastic paraplegia type 64" EXACT [DOID:0110815, MONDORULE:2] synonym: "spastic paraplegia 64, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615683] synonym: "SPG64" EXACT ABBREVIATION [DOID:0110815, MONDO:Lexical, OMIM:615683, Orphanet:401810] xref: DOID:0110815 {source="MONDO:equivalentTo"} xref: OMIM:615683 {source="Orphanet:401810", source="DOID:0110815", source="MONDO:equivalentTo", source="Orphanet:401810/e"} xref: Orphanet:401810 {source="DOID:0110815", source="MONDO:equivalentTo", source="OMIM:615683"} xref: SCTID:726609005 {source="MONDO:equivalentTo"} xref: UMLS:C3810289 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615683"} xref: UMLS:C4511960 {source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="MONDO:Redundant", source="Orphanet:401810"} ! autosomal recessive complex spastic paraplegia property_value: exactMatch DOID:0110815 property_value: exactMatch http://identifiers.org/snomedct/726609005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810289 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4511960 property_value: exactMatch https://omim.org/entry/615683 property_value: exactMatch Orphanet:401810 [Term] id: MONDO:0014304 name: hereditary spastic paraplegia 61 def: "A rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1." [Orphanet:401780] subset: ordo_disease {source="Orphanet:401780"} synonym: "ARL6IP1 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive complex spastic paraplegia caused by mutation in ARL6IP1" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 61" EXACT [DOID:0110812] synonym: "autosomal recessive spastic paraplegia type 61" EXACT [DOID:0110812] synonym: "hereditary spastic paraplegia 61" EXACT [] synonym: "hereditary spastic paraplegia type 61" EXACT [DOID:0110812, MONDORULE:2] synonym: "spastic paraplegia 61, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615685] synonym: "SPG61" EXACT ABBREVIATION [DOID:0110812, MONDO:Lexical, OMIM:615685, Orphanet:401780] xref: DOID:0110812 {source="MONDO:equivalentTo"} xref: OMIM:615685 {source="Orphanet:401780/e", source="DOID:0110812", source="MONDO:equivalentTo", source="Orphanet:401780"} xref: Orphanet:401780 {source="OMIM:615685", source="DOID:0110812", source="MONDO:equivalentTo"} xref: SCTID:726611001 {source="MONDO:equivalentTo"} xref: UMLS:C3810294 {source="OMIM:615685", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4511962 {source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="MONDO:Redundant", source="Orphanet:401780"} ! autosomal recessive complex spastic paraplegia property_value: exactMatch DOID:0110812 property_value: exactMatch http://identifiers.org/snomedct/726611001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810294 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4511962 property_value: exactMatch https://omim.org/entry/615685 property_value: exactMatch Orphanet:401780 [Term] id: MONDO:0014305 name: hereditary spastic paraplegia 63 def: "An extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2." [Orphanet:401805] subset: ordo_disease {source="Orphanet:401805"} synonym: "AMPD2 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive complex spastic paraplegia caused by mutation in AMPD2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 63" EXACT [DOID:0110814] synonym: "autosomal recessive spastic paraplegia type 63" RELATED [Orphanet:401805] synonym: "hereditary spastic paraplegia type 63" EXACT [DOID:0110814, MONDORULE:2] synonym: "spastic paraplegia 63" EXACT [DOID:0110814] synonym: "spastic paraplegia 63, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615686] synonym: "SPG63" EXACT ABBREVIATION [DOID:0110814, MONDO:Lexical, OMIM:615686, Orphanet:401805] xref: DOID:0110814 {source="MONDO:equivalentTo"} xref: OMIM:615686 {source="Orphanet:401805/e", source="MONDO:equivalentTo", source="DOID:0110814", source="Orphanet:401805"} xref: Orphanet:401805 {source="OMIM:615686", source="MONDO:equivalentTo", source="DOID:0110814"} xref: SCTID:726610000 {source="MONDO:equivalentTo"} xref: UMLS:C3810295 {source="OMIM:615686", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015089 {source="MONDO:Redundant", source="Orphanet:401805"} ! autosomal recessive complex spastic paraplegia property_value: exactMatch DOID:0110814 property_value: exactMatch http://identifiers.org/snomedct/726610000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810295 property_value: exactMatch https://omim.org/entry/615686 property_value: exactMatch Orphanet:401805 [Term] id: MONDO:0014306 name: vasculitis due to ADA2 deficiency def: "Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency." [Orphanet:404553] subset: ordo_disease {source="Orphanet:404553"} synonym: "ADA2 deficiency" EXACT [OMIM:615688] synonym: "adenosine deaminase 2 deficiency" EXACT [GARD:0012383] synonym: "childhood-onset polyarteritis nodosa" EXACT [GARD:0012383] synonym: "DADA2" EXACT ABBREVIATION [GARD:0012383] synonym: "PAN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615688] synonym: "polyarteritis nodosa, childhood-onset" EXACT [MONDO:Lexical, OMIM:615688] synonym: "vasculitis due to DADA2" EXACT [Orphanet:404553] synonym: "vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome" EXACT [OMIM:615688, OMIM:genemap2] xref: OMIM:615688 {source="Orphanet:404553/e", source="MONDO:equivalentTo", source="Orphanet:404553"} xref: Orphanet:404553 {source="OMIM:615688", source="MONDO:equivalentTo"} xref: UMLS:C0031036 {source="OMIM:615688", source="MONDO:relatedTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015489 {source="Orphanet:404553"} ! predominantly medium-vessel vasculitis is_a: MONDO:0018782 {source="Orphanet:404553"} ! type 1 interferonopathy is_a: MONDO:0023603 ! hereditary disorder of connective tissue is_a: MONDO:0100317 {source="https://clinicalgenome.org/affiliation/40080/"} ! deficiency of adenosine deaminase 2 property_value: exactMatch https://omim.org/entry/615688 property_value: exactMatch Orphanet:404553 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6166 xsd:anyURI [Term] id: MONDO:0014309 name: obesity due to CEP19 deficiency subset: ordo_disease {source="Orphanet:397615"} synonym: "morbid obesity and spermatogenic failure" RELATED [MONDO:Lexical, OMIM:615703] synonym: "MOSPGF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615703] xref: OMIM:615703 {source="Orphanet:397615/e", source="MONDO:equivalentTo", source="Orphanet:397615"} xref: Orphanet:397615 {source="MONDO:equivalentTo", source="OMIM:615703"} xref: UMLS:C3810324 {source="MONDO:equivalentTo", source="OMIM:615703", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0020075 {source="Orphanet:397615"} ! hereditary non-syndromic obesity property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810324 property_value: exactMatch https://omim.org/entry/615703 property_value: exactMatch Orphanet:397615 [Term] id: MONDO:0014310 name: hereditary sclerosing poikiloderma with tendon and pulmonary involvement def: "Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features." [Orphanet:221043] subset: ordo_disease {source="Orphanet:221043"} synonym: "hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis" RELATED [GARD:0013218] synonym: "hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome" RELATED [Orphanet:221043] synonym: "poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis" RELATED [MONDO:Lexical, OMIM:615704] synonym: "poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement" RELATED [OMIM:615704] synonym: "POIKTMP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615704] synonym: "POIKTMP syndrome" EXACT [Orphanet:221043] xref: OMIM:615704 {source="Orphanet:221043", source="MONDO:equivalentTo", source="Orphanet:221043/e"} xref: Orphanet:221043 {source="MONDO:equivalentTo", source="OMIM:615704"} xref: UMLS:C3810325 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615704"} is_a: MONDO:0016382 {source="Orphanet:221043"} ! hereditary poikiloderma is_a: MONDO:0017027 {source="Orphanet:221043"} ! primary interstitial lung disease specific to adulthood property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810325 property_value: exactMatch https://omim.org/entry/615704 property_value: exactMatch Orphanet:221043 [Term] id: MONDO:0014311 name: autosomal recessive spinocerebellar ataxia 15 def: "Any autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome in which the cause of the disease is a mutation in the RUBCN gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:404499"} synonym: "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in RUBCN" EXACT [] synonym: "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to KIAA0226 deficiency" RELATED [Orphanet:404499] synonym: "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in RUBCN" EXACT [MONDO:design_pattern] synonym: "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency" RELATED [Orphanet:404499] synonym: "autosomal recessive spinocerebellar ataxia type 15" EXACT [DOID:0080057, MONDORULE:2, Orphanet:404499] synonym: "RUBCN autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "RUBCN autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Salih ataxia" RELATED [OMIM:615705] synonym: "SCAR15" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615705, Orphanet:404499] synonym: "spinocerebellar ataxia, autosomal recessive 15" RELATED [MONDO:Lexical, OMIM:615705] synonym: "spinocerebellar ataxia, autosomal recessive type 15" EXACT [MONDORULE:2, OMIM:615705] xref: DOID:0080057 {source="MONDO:equivalentTo"} xref: OMIM:615705 {source="DOID:0080057", source="Orphanet:404499/e", source="MONDO:equivalentTo", source="Orphanet:404499"} xref: Orphanet:404499 {source="MONDO:equivalentTo", source="OMIM:615705"} xref: UMLS:C3810326 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615705"} is_a: MONDO:0018446 {source="MONDO:Redundant", source="Orphanet:404499"} ! autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome property_value: exactMatch DOID:0080057 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810326 property_value: exactMatch https://omim.org/entry/615705 property_value: exactMatch Orphanet:404499 [Term] id: MONDO:0014313 name: autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity subset: ordo_disease {source="Orphanet:437552"} synonym: "autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity" EXACT [Orphanet:437552] synonym: "CD16 deficiency" EXACT [Orphanet:437552] synonym: "IMD20" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615707] synonym: "immunodeficiency 20" RELATED [MONDO:Lexical, OMIM:615707] synonym: "immunodeficiency type 20" EXACT [MONDORULE:2, OMIM:615707] xref: DOID:0111941 {source="MONDO:equivalentTo"} xref: OMIM:615707 {source="Orphanet:437552/e", source="MONDO:equivalentTo", source="Orphanet:437552"} xref: Orphanet:437552 {source="MONDO:equivalentTo"} xref: UMLS:C3810342 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615707"} is_a: MONDO:0015135 {source="MONDO:0018545-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary immunodeficiency due to a genetic defect in innate immunity property_value: exactMatch DOID:0111941 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810342 property_value: exactMatch https://omim.org/entry/615707 property_value: exactMatch Orphanet:437552 [Term] id: MONDO:0014314 name: sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome subset: ordo_malformation_syndrome {source="Orphanet:397927"} synonym: "sacral agenesis with vertebral anomalies" RELATED [MONDO:Lexical, OMIM:615709] synonym: "SAVA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615709] xref: OMIM:615709 {source="Orphanet:397927/e", source="MONDO:equivalentTo", source="Orphanet:397927"} xref: Orphanet:397927 {source="MONDO:equivalentTo", source="OMIM:615709"} xref: UMLS:C3810343 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615709"} is_a: MONDO:0018075 {source="MONDO:0017085-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neural tube defect property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810343 property_value: exactMatch https://omim.org/entry/615709 property_value: exactMatch Orphanet:397927 [Term] id: MONDO:0014317 name: pancytopenia-developmental delay syndrome subset: ordo_disease {source="Orphanet:401764"} synonym: "BMFS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615715] synonym: "bone marrow failure syndrome 2" RELATED [MONDO:Lexical, OMIM:615715] synonym: "bone marrow failure syndrome type 2" EXACT [MONDORULE:1, OMIM:615715] synonym: "pancytopenia-developmental delay syndrome" EXACT [] synonym: "Trilineage bone marrow failure-developmental delay syndrome" EXACT [Orphanet:401764] xref: OMIM:615715 {source="Orphanet:401764", source="MONDO:equivalentTo", source="Orphanet:401764/e"} xref: Orphanet:401764 {source="MONDO:equivalentTo", source="OMIM:615715"} xref: UMLS:C3810350 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615715"} is_a: MONDO:0000159 {source="DC-OMIM:615715", source="OMIM:615715"} ! bone marrow failure syndrome is_a: MONDO:0001713 {source="Orphanet:401764"} ! inherited aplastic anemia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810350 property_value: exactMatch https://omim.org/entry/615715 property_value: exactMatch Orphanet:401764 [Term] id: MONDO:0014320 name: Bosch-Boonstra-Schaaf optic atrophy syndrome def: "Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific." [Orphanet:401777] subset: ordo_disease {source="Orphanet:401777"} synonym: "BBSOAS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615722] synonym: "Bosch-Boonstra-Schaaf optic atrophy syndrome" EXACT [] synonym: "optic atrophy-intellectual disability syndrome" EXACT [Orphanet:401777] xref: DOID:0112226 {source="MONDO:equivalentTo"} xref: ICD10CM:H47.2 {source="Orphanet:401777/attributed", source="Orphanet:401777/ntbt", source="MONDO:relatedTo", source="Orphanet:401777"} xref: OMIM:615722 {source="Orphanet:401777", source="MONDO:equivalentTo", source="Orphanet:401777/e"} xref: Orphanet:401777 {source="OMIM:615722", source="MONDO:equivalentTo"} xref: UMLS:C3810363 {source="OMIM:615722", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000508 {source="Orphanet:401777", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: exactMatch DOID:0112226 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810363 property_value: exactMatch https://omim.org/entry/615722 property_value: exactMatch Orphanet:401777 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4452 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0014326 name: nemaline myopathy 9 def: "Any nemaline myopathy in which the cause of the disease is a mutation in the KLHL41 gene." [MONDO:patterns/disease_series_by_gene] synonym: "KLHL41 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "NEM9" EXACT ABBREVIATION [DOID:0110929, MONDO:Lexical, OMIM:615731] synonym: "nemaline myopathy 9" EXACT [MONDO:Lexical, OMIM:615731] synonym: "nemaline myopathy caused by mutation in KLHL41" EXACT [MONDO:design_pattern] synonym: "nemaline myopathy type 9" EXACT [DOID:0110929, MONDORULE:1, OMIM:615731] xref: DOID:0110929 {source="MONDO:equivalentTo"} xref: OMIM:615731 {source="MONDO:equivalentTo", source="DOID:0110929"} xref: UMLS:C3810384 {source="OMIM:615731", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015735 {source="Orphanet:171430/btnt"} ! severe congenital nemaline myopathy is_a: MONDO:0015736 {source="Orphanet:171433/btnt"} ! intermediate nemaline myopathy is_a: MONDO:0015737 {source="Orphanet:171436/btnt"} ! typical nemaline myopathy is_a: MONDO:0015738 {source="Orphanet:171439/btnt"} ! childhood-onset nemaline myopathy property_value: exactMatch DOID:0110929 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810384 property_value: exactMatch https://omim.org/entry/615731 [Term] id: MONDO:0014327 name: palmoplantar keratoderma, nonepidermolytic, focal or diffuse subset: ordo_disease {source="Orphanet:402003"} synonym: "autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering" EXACT [Orphanet:402003] synonym: "palmoplantar keratoderma, nonepidermolytic, focal or diffuse" EXACT [MONDO:Lexical, OMIM:615735] synonym: "PPKNEFD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615735] xref: DOID:0111710 {source="MONDO:equivalentTo"} xref: OMIM:615735 {source="Orphanet:402003/e", source="MONDO:equivalentTo", source="Orphanet:402003"} xref: Orphanet:402003 {source="MONDO:equivalentTo", source="OMIM:615735"} xref: UMLS:C3810394 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615735"} is_a: MONDO:0019272 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0001-5493-2602"} ! hereditary palmoplantar keratoderma property_value: exactMatch DOID:0111710 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810394 property_value: exactMatch https://omim.org/entry/615735 property_value: exactMatch Orphanet:402003 property_value: excluded_subClassOf MONDO:0006588 {source="DC-OMIM:615735"} property_value: excluded_subClassOf MONDO:0017673 {source="Orphanet:402003"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3108 xsd:anyURI [Term] id: MONDO:0014330 name: obsolete eculizumab, poor response to synonym: "eculizumab, poor response to" EXACT [OMIM:615749, OMIM:genemap2] xref: OMIM:615749 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C3810402 {source="MONDO:obsoleteEquivalent", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615749"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810402 property_value: exactMatch https://omim.org/entry/615749 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI is_obsolete: true [Term] id: MONDO:0014331 name: Moyamoya disease with early-onset achalasia def: "Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis." [Orphanet:401945] subset: ordo_disease {source="Orphanet:401945"} synonym: "moyamoya 6 with achalasia" EXACT [OMIM:615750, OMIM:genemap2] synonym: "Moyamoya disease 6 with achalasia" RELATED [MONDO:Lexical, OMIM:615750] synonym: "MYMY6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615750] xref: OMIM:615750 {source="MONDO:equivalentTo", source="Orphanet:401945", source="Orphanet:401945/e"} xref: Orphanet:401945 {source="MONDO:equivalentTo", source="OMIM:615750"} xref: SCTID:718551002 {source="MONDO:equivalentTo"} xref: UMLS:C3810403 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615750"} is_a: MONDO:0015617 {source="Orphanet:401945"} ! hereditary gastro-esophageal disease is_a: MONDO:0016820 {source="DC-OMIM:615750", source="OMIM:615750"} ! Moyamoya disease property_value: exactMatch http://identifiers.org/snomedct/718551002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810403 property_value: exactMatch https://omim.org/entry/615750 property_value: exactMatch Orphanet:401945 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0014332 name: hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency subset: ordo_disease {source="Orphanet:401948"} synonym: "CA-VA deficiency" EXACT [Orphanet:401948] synonym: "CA5AD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615751] synonym: "carbonic anhydrase 5A deficiency, hyperammonemia due to" RELATED [OMIM:615751] synonym: "carbonic anhydrase VA deficiency" RELATED [GARD:0013201] synonym: "carbonic anhydrase VA deficiency, hyperammonemia due to" RELATED [MONDO:Lexical, OMIM:615751] synonym: "hyperammonemia due to carbonic anhydrase VA deficiency" RELATED [GARD:0013201] synonym: "hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency" EXACT [] synonym: "mitochondrial carbonic anhydrase va deficiency" RELATED [GARD:0013201] xref: OMIM:615751 {source="Orphanet:401948/e", source="MONDO:equivalentTo", source="Orphanet:401948"} xref: Orphanet:401948 {source="OMIM:615751", source="MONDO:equivalentTo"} xref: SCTID:764456001 {source="MONDO:equivalentTo"} xref: UMLS:C3810404 {source="OMIM:615751", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019225 {source="Orphanet:401948"} ! disorder of gluconeogenesis is_a: MONDO:0800153 {source="PMID:33340416"} ! urea cycle disorder or inherited hyperammonemia property_value: exactMatch http://identifiers.org/snomedct/764456001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810404 property_value: exactMatch https://omim.org/entry/615751 property_value: exactMatch Orphanet:401948 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0014334 name: severe combined immunodeficiency due to LCK deficiency subset: ordo_disease {source="Orphanet:280142"} synonym: "IMD22" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615758] synonym: "immunodeficiency 22" RELATED [MONDO:Lexical, OMIM:615758] synonym: "immunodeficiency type 22" EXACT [MONDORULE:2, OMIM:615758] synonym: "SCID due to LCK deficiency" EXACT [Orphanet:280142] synonym: "SCID due to lymphocyte-specific protein tyrosine kinase deficiency" EXACT [Orphanet:280142] synonym: "severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency" EXACT [Orphanet:280142] xref: DOID:0111937 {source="MONDO:equivalentTo"} xref: OMIM:615758 {source="MONDO:equivalentTo", source="Orphanet:280142", source="Orphanet:280142/e"} xref: Orphanet:280142 {source="MONDO:equivalentTo", source="OMIM:615758"} xref: UMLS:C4014233 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0017855 {source="Orphanet:280142"} ! T-B- severe combined immunodeficiency property_value: exactMatch DOID:0111937 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014233 property_value: exactMatch https://omim.org/entry/615758 property_value: exactMatch Orphanet:280142 [Term] id: MONDO:0014335 name: diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome subset: ordo_malformation_syndrome {source="Orphanet:404437"} synonym: "diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome" EXACT [] synonym: "microcephaly, progressive, seizures, and cerebral and cerebellar atrophy" EXACT [OMIM:615760, OMIM:genemap2] synonym: "microcephaly, progressive, with seizures and cerebral and cerebellar atrophy" RELATED [MONDO:Lexical, OMIM:615760] synonym: "MSCCA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615760] xref: OMIM:615760 {source="Orphanet:404437", source="MONDO:equivalentTo", source="Orphanet:404437/e"} xref: Orphanet:404437 {source="MONDO:equivalentTo", source="OMIM:615760"} xref: UMLS:C4014239 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0005772 {source="OMIM:615760", source="https://orcid.org/0000-0001-5208-3432"} ! neurodegenerative disease is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014239 property_value: exactMatch https://omim.org/entry/615760 property_value: exactMatch Orphanet:404437 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0014336 name: intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency subset: ordo_malformation_syndrome {source="Orphanet:404440"} synonym: "autosomal dominant intellectual disability 23" EXACT [DOID:0070053] synonym: "autosomal dominant mental retardation 23" EXACT DEPRECATED [DOID:0070053] synonym: "autosomal dominant non-syndromic intellectual disability 23" RELATED [DOID:0070053] synonym: "intellectual developmental disorder, autosomal dominant 23" EXACT [OMIM:615761, OMIM:genemap2] synonym: "intellectual disability, autosomal dominant 23" RELATED [MONDO:Lexical, OMIM:615761] synonym: "intellectual disability, autosomal dominant type 23" EXACT [MONDORULE:2, OMIM:615761] synonym: "intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency" EXACT [] synonym: "mental retardation, autosomal dominant 23" RELATED DEPRECATED [MONDO:Lexical, OMIM:615761] synonym: "mental retardation, autosomal dominant type 23" EXACT DEPRECATED [MONDORULE:2, OMIM:615761] synonym: "MRD23" EXACT ABBREVIATION [DOID:0070053, MONDO:Lexical, OMIM:615761] xref: DOID:0070053 {source="MONDO:equivalentTo"} xref: OMIM:615761 {source="DOID:0070053", source="Orphanet:404440/e", source="MONDO:equivalentTo", source="Orphanet:404440"} xref: Orphanet:404440 {source="MONDO:equivalentTo", source="OMIM:615761"} xref: UMLS:C3810406 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615761"} is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0015159 {source="Orphanet:404440"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch DOID:0070053 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810406 property_value: exactMatch https://omim.org/entry/615761 property_value: exactMatch Orphanet:404440 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:404440"} property_value: excluded_subClassOf MONDO:0015802 {source="DOID:0070053"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0014339 name: autosomal recessive spinocerebellar ataxia 16 def: "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the STUB1 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:412057"} synonym: "autosomal recessive cerebellar ataxia caused by mutation in STUB1" EXACT [MONDO:design_pattern] synonym: "autosomal recessive cerebellar ataxia due to STUB1 deficiency" RELATED [Orphanet:412057] synonym: "autosomal recessive spinocerebellar ataxia 16" EXACT [] synonym: "autosomal recessive spinocerebellar ataxia type 16" EXACT [DOID:0080029, MONDORULE:2] synonym: "SCAR16" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615768, Orphanet:412057] synonym: "spinocerebellar ataxia autosomal recessive type 16" EXACT [Orphanet:412057] synonym: "spinocerebellar ataxia, autosomal recessive 16" RELATED [MONDO:Lexical, OMIM:615768] synonym: "spinocerebellar ataxia, autosomal recessive type 16" EXACT [MONDORULE:2, OMIM:615768] synonym: "STUB1 autosomal recessive cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080029 {source="MONDO:equivalentTo"} xref: OMIM:615768 {source="Orphanet:412057/e", source="MONDO:equivalentTo", source="DOID:0080029", source="Orphanet:412057"} xref: Orphanet:412057 {source="MONDO:equivalentTo", source="OMIM:615768"} xref: UMLS:C4014261 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015244 {source="DOID:0080029", source="MONDO:Redundant", source="Orphanet:412057"} ! autosomal recessive cerebellar ataxia property_value: exactMatch DOID:0080029 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014261 property_value: exactMatch https://omim.org/entry/615768 property_value: exactMatch Orphanet:412057 [Term] id: MONDO:0014342 name: female infertility due to zona pellucida defect def: "Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa." [Orphanet:404466] subset: ordo_disease {source="Orphanet:404466"} synonym: "oocyte maturation defect" RELATED [MONDO:Lexical, OMIM:615774] synonym: "oocyte maturation defect 1" RELATED [OMIM:615774] synonym: "OOMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615774] synonym: "OOMD1" RELATED ABBREVIATION [OMIM:615774] xref: OMIM:615774 {source="Orphanet:404466/e", source="MONDO:equivalentTo", source="Orphanet:404466"} xref: Orphanet:404466 {source="OMIM:615774", source="MONDO:equivalentTo"} xref: UMLS:C4014291 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0008560 {source="Orphanet:404466"} ! female infertility is_a: MONDO:0014769 {source="OMIM:615774"} ! inherited oocyte maturation defect property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014291 property_value: exactMatch https://omim.org/entry/615774 property_value: exactMatch Orphanet:404466 [Term] id: MONDO:0014343 name: Desbuquois dysplasia 2 def: "Any Desbuquois dysplasia in which the cause of the disease is a mutation in the XYLT1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Baratela-Scott syndrome" EXACT [MONDO:0010470, OMIM:300881] synonym: "DBQD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615777] synonym: "Desbuquois dysplasia 2" EXACT [MONDO:Lexical, OMIM:615777] synonym: "Desbuquois dysplasia caused by mutation in XYLT1" EXACT [MONDO:design_pattern] synonym: "Desbuquois dysplasia type 2" EXACT [MONDORULE:1, OMIM:615777] synonym: "XYLT1 Desbuquois dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: OMIM:615777 {source="MONDO:equivalentTo"} xref: UMLS:C3550876 {source="MONDO:equivalentObsolete", source="OMIM:300881", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4014294 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015426 {source="DC-OMIM:615777", source="MONDO:Redundant", source="OMIM:615777", source="Orphanet:1425/btnt"} ! Desbuquois dysplasia is_a: MONDO:0800086 {source="PMID:31633310"} ! primary bone dysplasia with multiple joint dislocations property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014294 property_value: exactMatch https://omim.org/entry/615777 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0014347 name: short stature with microcephaly and distinctive facies synonym: "short stature with microcephaly and distinctive facies" EXACT [OMIM:615789] xref: OMIM:615789 {source="MONDO:equivalentTo"} xref: UMLS:C4014339 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014339 property_value: exactMatch https://omim.org/entry/615789 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0014349 name: pontocerebellar hypoplasia type 10 def: "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the CLP1 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_malformation_syndrome {source="Orphanet:411493"} synonym: "CLP1 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CLP1-related pontocerebellar hypoplasia" EXACT [Orphanet:411493] synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in CLP1" EXACT [MONDO:design_pattern] synonym: "PCH10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615803, Orphanet:411493] synonym: "pontocerebellar hypoplasia, type 10" RELATED [MONDO:Lexical, OMIM:615803] xref: DOID:0060279 {source="MONDO:equivalentTo"} xref: OMIM:615803 {source="Orphanet:411493/e", source="DOID:0060279", source="MONDO:equivalentTo", source="Orphanet:411493"} xref: Orphanet:411493 {source="DOID:0060279", source="MONDO:equivalentTo", source="OMIM:615803"} xref: UMLS:C4014347 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0020135 {source="DC-OMIM:615803", source="DOID:0060279", source="MONDO:Redundant", source="OMIM:615803", source="Orphanet:411493"} ! pontocerebellar hypoplasia property_value: exactMatch DOID:0060279 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014347 property_value: exactMatch https://omim.org/entry/615803 property_value: exactMatch Orphanet:411493 [Term] id: MONDO:0014351 name: pontocerebellar hypoplasia type 9 def: "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the AMPD2 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_malformation_syndrome {source="Orphanet:369920"} synonym: "AMPD2 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in AMPD2" EXACT [MONDO:design_pattern] synonym: "PCH9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615809, Orphanet:369920] synonym: "pontocerebellar hypoplasia, type 9" RELATED [MONDO:Lexical, OMIM:615809] xref: DOID:0060278 {source="MONDO:equivalentTo"} xref: OMIM:615809 {source="Orphanet:369920", source="DOID:0060278", source="MONDO:equivalentTo", source="Orphanet:369920/e"} xref: Orphanet:369920 {source="DOID:0060278", source="MONDO:equivalentTo", source="OMIM:615809"} xref: UMLS:C4014354 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0020135 {source="DC-OMIM:615809", source="DOID:0060278", source="MONDO:Redundant", source="OMIM:615809", source="Orphanet:369920"} ! pontocerebellar hypoplasia property_value: exactMatch DOID:0060278 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014354 property_value: exactMatch https://omim.org/entry/615809 property_value: exactMatch Orphanet:369920 [Term] id: MONDO:0014353 name: immunodeficiency 23 subset: ordo_disease {source="Orphanet:443811"} synonym: "CID due to PGM3 deficiency" EXACT [Orphanet:443811] synonym: "combined immunodeficiency due to PGM3 deficiency" EXACT [Orphanet:443811] synonym: "combined inflammatory and immunologic defect" EXACT [MONDO:0009004, OMIM:216920] synonym: "IMD23" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615816] synonym: "immunodeficiency 23" EXACT [MONDO:Lexical, OMIM:615816] synonym: "immunodeficiency type 23" EXACT [MONDORULE:2, OMIM:615816] synonym: "immunodeficiency with hyper IgE and cognitive impairment" EXACT [OMIM:615816] synonym: "immunodeficiency-vasculitis-myoclonus syndrome" EXACT [OMIM:615816] synonym: "PGM3-CDG" EXACT [] synonym: "PGM3-EXACT congenital disorder of glycosylation" EXACT [Orphanet:443811] synonym: "phosphoglucomutase 3 deficiency" EXACT [GARD:0004331] synonym: "phosphoglucomutase deficiency type 3" EXACT [GARD:0004331] xref: DOID:0111953 {source="MONDO:equivalentTo"} xref: MESH:C565684 {source="MONDO:equivalentTo"} xref: OMIM:216920 {source="MONDO:equivalentObsolete"} xref: OMIM:615816 {source="MONDO:equivalentTo", source="Orphanet:443811", source="Orphanet:443811/e"} xref: Orphanet:443811 {source="MONDO:equivalentTo"} xref: UMLS:C1857617 {source="MONDO:equivalentTo", source="OMIM:216920", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4014371 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0017749 {source="Orphanet:443811"} ! disorder of multiple glycosylation is_a: MONDO:0021094 {source="OMIM:615816"} ! immunodeficiency disease property_value: exactMatch DOID:0111953 property_value: exactMatch http://identifiers.org/mesh/C565684 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857617 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014371 property_value: exactMatch https://omim.org/entry/615816 property_value: exactMatch Orphanet:443811 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3799 xsd:anyURI [Term] id: MONDO:0014361 name: autism spectrum disorder due to AUTS2 deficiency def: "Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures." [Orphanet:352490] subset: ordo_disease {source="Orphanet:352490"} synonym: "ASD due to AUTS2 deficiency" EXACT [Orphanet:352490] synonym: "autism spectrum disorder due to AUTS2 deficiency" EXACT [] synonym: "autosomal dominant mental retardation 26" EXACT DEPRECATED [DOID:0070056] synonym: "autosomal dominant non-syndromic intellectual disability 26" EXACT DEPRECATED [DOID:0070056] synonym: "AUTS2 syndrome" EXACT [Orphanet:352490] synonym: "intellectual developmental disorder, autosomal dominant 26" EXACT [OMIM:615834, OMIM:genemap2] synonym: "intellectual disability type 26" EXACT [MONDORULE:2] synonym: "mental retardation, autosomal dominant 26" EXACT DEPRECATED [MONDO:Lexical, OMIM:615834] synonym: "mental retardation, autosomal dominant type 26" EXACT DEPRECATED [MONDORULE:2, OMIM:615834] synonym: "MRD26" EXACT DEPRECATED [DOID:0070056, MONDO:Lexical, OMIM:615834] xref: DOID:0070056 {source="MONDO:equivalentTo"} xref: OMIM:615834 {source="DOID:0070056", source="Orphanet:352490/e", source="MONDO:equivalentTo", source="Orphanet:352490"} xref: Orphanet:352490 {source="MONDO:equivalentTo", source="OMIM:615834"} xref: UMLS:C4014435 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:352490", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:352490"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0100172 ! intellectual disability, autosomal dominant property_value: exactMatch DOID:0070056 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014435 property_value: exactMatch https://omim.org/entry/615834 property_value: exactMatch Orphanet:352490 property_value: excluded_subClassOf MONDO:0015802 {source="DOID:0070056"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0014365 name: spermatogenic failure 13 def: "Any azoospermia in which the cause of the disease is a mutation in the TAF4B gene." [MONDO:patterns/disease_series_by_gene] synonym: "azoospermia caused by mutation in TAF4B" EXACT [MONDO:design_pattern] synonym: "spermatogenic failure 13" EXACT [MONDO:Lexical, OMIM:615841] synonym: "spermatogenic failure type 13" EXACT [MONDORULE:2, OMIM:615841] synonym: "SPGF13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615841] synonym: "TAF4B azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070182 {source="MONDO:equivalentTo"} xref: OMIM:615841 {source="MONDO:equivalentTo"} xref: UMLS:C4014449 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0000279 {source="DC-OMIM:615841", source="MONDO:Redundant", source="OMIM:615841"} ! azoospermia is_a: MONDO:0018393 {source="Orphanet:399805/btnt"} ! male infertility with azoospermia or oligozoospermia due to single gene mutation property_value: exactMatch DOID:0070182 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014449 property_value: exactMatch https://omim.org/entry/615841 [Term] id: MONDO:0014366 name: spermatogenic failure 14 def: "Any azoospermia in which the cause of the disease is a mutation in the ZMYND15 gene." [MONDO:patterns/disease_series_by_gene] synonym: "azoospermia caused by mutation in ZMYND15" EXACT [MONDO:design_pattern] synonym: "spermatogenic failure 14" EXACT [MONDO:Lexical, OMIM:615842] synonym: "spermatogenic failure type 14" EXACT [MONDORULE:2, OMIM:615842] synonym: "SPGF14" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615842] synonym: "ZMYND15 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070179 {source="MONDO:equivalentTo"} xref: OMIM:615842 {source="MONDO:equivalentTo"} xref: UMLS:C4014454 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0000279 {source="DC-OMIM:615842", source="MONDO:Redundant", source="OMIM:615842"} ! azoospermia is_a: MONDO:0018393 {source="Orphanet:399805/btnt"} ! male infertility with azoospermia or oligozoospermia due to single gene mutation property_value: exactMatch DOID:0070179 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014454 property_value: exactMatch https://omim.org/entry/615842 [Term] id: MONDO:0014367 name: Aicardi-Goutieres syndrome 7 def: "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the IFIH1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "AGS7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615846] synonym: "Aicardi-Goutieres syndrome 7" EXACT [MONDO:Lexical, OMIM:615846] synonym: "Aicardi-Goutieres syndrome caused by mutation in IFIH1" EXACT [MONDO:design_pattern] synonym: "Aicardi-Goutieres syndrome type 7" EXACT [MONDORULE:1, OMIM:615846] synonym: "IFIH1 Aicardi-Goutieres syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: NCIT:C168585 {source="MONDO:equivalentTo"} xref: OMIM:615846 {source="MONDO:equivalentTo"} xref: UMLS:C3888244 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018866 {source="DC-OMIM:615846", source="MONDO:Redundant", source="OMIM:615846"} ! Aicardi-Goutieres syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888244 property_value: exactMatch https://omim.org/entry/615846 property_value: exactMatch NCIT:C168585 [Term] id: MONDO:0014368 name: melanoma, cutaneous malignant, susceptibility to, 10 subset: predisposition synonym: "CMM10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615848] synonym: "melanoma, cutaneous malignant, susceptibility to, 10" EXACT [MONDO:Lexical, OMIM:615848] synonym: "melanoma, cutaneous malignant, susceptibility to, type 10" EXACT [MONDORULE:2, OMIM:615848] synonym: "susceptibility to cutaneous malignant melanoma 10" RELATED [OMIM:615848] xref: OMIM:615848 {source="MONDO:equivalentTo"} is_a: MONDO:0020573 {source="OMIM:615848"} ! inherited disease susceptibility relationship: predisposes_towards EFO:0000389 {source="https://orcid.org/0000-0002-4142-7153"} ! cutaneous melanoma property_value: exactMatch https://omim.org/entry/615848 property_value: excluded_subClassOf MONDO:0018961 {source="Orphanet:618/btnt"} property_value: excluded_subClassOf MONDO:0024462 {source="OMIM:615848"} [Term] id: MONDO:0014369 name: postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome def: "Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination." [Orphanet:420584] subset: ordo_malformation_syndrome {source="Orphanet:420584"} synonym: "CJS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615849] synonym: "Culler-Jones syndrome" RELATED [MONDO:Lexical, OMIM:615849] synonym: "Pallister-Hall syndrome 2" RELATED [OMIM:615849] synonym: "Pallister-Hall syndrome 2, formerly" RELATED [OMIM:615849] xref: DOID:0080328 {source="MONDO:equivalentTo"} xref: OMIM:615849 {source="Orphanet:420584", source="MONDO:equivalentTo", source="Orphanet:420584/e", source="DOID:0080328"} xref: Orphanet:420584 {source="MONDO:equivalentTo", source="OMIM:615849"} xref: UMLS:C4014479 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000426 {source="DOID:0080328"} ! autosomal dominant disease is_a: MONDO:0002254 {source="DOID:0080328"} ! syndromic disease is_a: MONDO:0018454 ! dysostosis of genetic origin is_a: MONDO:0018762 ! non-acquired combined pituitary hormone deficiency is_a: MONDO:0019054 ! congenital limb malformation property_value: exactMatch DOID:0080328 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014479 property_value: exactMatch https://omim.org/entry/615849 property_value: exactMatch Orphanet:420584 [Term] id: MONDO:0014375 name: congenital diarrhea 7 with exudative enteropathy def: "Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema." [Orphanet:329242] subset: ordo_disease {source="Orphanet:329242"} synonym: "congenital chronic diarrhea with exudative enteropathy" EXACT [DOID:0060778, Orphanet:329242] synonym: "congenital chronic diarrhea with protein-losing enteropathy" EXACT [DOID:0060778] synonym: "congenital chronic diarrhoea with exudative enteropathy" EXACT OMO:0003005 [] synonym: "congenital chronic diarrhoea with protein-losing enteropathy" EXACT OMO:0003005 [] synonym: "congenital diarrhea caused by mutation in DGAT1" EXACT [MONDO:design_pattern] synonym: "congenital diarrhoea caused by mutation in DGAT1" EXACT OMO:0003005 [] synonym: "DGAT1 congenital diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "DGAT1 congenital diarrhoea" EXACT OMO:0003005 [] synonym: "DIAR7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615863] synonym: "diarrhea 7" RELATED [MONDO:Lexical, OMIM:615863] synonym: "diarrhea 7, protein-losing enteropathy type" EXACT [OMIM:615863, OMIM:genemap2] synonym: "diarrhea type 7" EXACT [MONDORULE:1, OMIM:615863] synonym: "diarrhoea 7" RELATED OMO:0003005 [] synonym: "diarrhoea 7, protein-losing enteropathy type" EXACT OMO:0003005 [] synonym: "diarrhoea type 7" EXACT OMO:0003005 [] xref: DOID:0060778 {source="MONDO:equivalentTo"} xref: OMIM:615863 {source="MONDO:equivalentTo", source="DOID:0060778", source="Orphanet:329242", source="Orphanet:329242/e"} xref: Orphanet:329242 {source="OMIM:615863", source="MONDO:equivalentTo", source="DOID:0060778"} xref: UMLS:C4014516 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000824 {source="DC-OMIM:615863", source="DOID:0060778", source="MONDO:Redundant", source="OMIM:615863"} ! congenital diarrhea is_a: MONDO:0019126 {source="Orphanet:329242"} ! intractable diarrhea of infancy property_value: exactMatch DOID:0060778 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014516 property_value: exactMatch https://omim.org/entry/615863 property_value: exactMatch Orphanet:329242 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0014379 name: ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder def: "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13." [DOID:0070058] subset: ordo_malformation_syndrome {source="Orphanet:404448"} synonym: "ADNP syndrome" RELATED [GARD:0012931] synonym: "ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder" EXACT [] synonym: "autosomal dominant intellectual disability 28" EXACT [DOID:0070058] synonym: "autosomal dominant mental retardation 28" EXACT DEPRECATED [DOID:0070058] synonym: "Helsmoortel-VAN DER AA syndrome" RELATED [MONDO:Lexical, OMIM:615873] synonym: "HVDAS" EXACT ABBREVIATION [DOID:0070058, MONDO:Lexical, OMIM:615873] synonym: "intellectual disability, autosomal dominant 28" RELATED [OMIM:615873] synonym: "mental retardation, autosomal dominant 28" RELATED DEPRECATED [OMIM:615873] synonym: "MRD28" EXACT ABBREVIATION [DOID:0070058] xref: DOID:0070058 {source="MONDO:equivalentTo"} xref: OMIM:615873 {source="Orphanet:404448", source="DOID:0070058", source="MONDO:equivalentTo", source="Orphanet:404448/e"} xref: Orphanet:404448 {source="OMIM:615873", source="MONDO:equivalentTo"} xref: SCTID:766824003 {source="MONDO:equivalentTo"} xref: UMLS:C4014538 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:404448", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:404448"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0100172 ! intellectual disability, autosomal dominant property_value: exactMatch DOID:0070058 property_value: exactMatch http://identifiers.org/snomedct/766824003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014538 property_value: exactMatch https://omim.org/entry/615873 property_value: exactMatch Orphanet:404448 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0014382 name: Tatton-Brown-Rahman overgrowth syndrome def: "A rare multiple congenital anomalies syndrome characterized by greater hight, mild to moderate intellectual disability and distinctive facial appereance like round face, heavy, horizontal eyebrows and narrow palpebral fissures." [Orphanet:404443] subset: ordo_malformation_syndrome {source="Orphanet:404443"} synonym: "DNMT3A-related overgrowth syndrome" EXACT [Orphanet:404443] synonym: "tall stature-intellectual disability-facial dysmorphism syndrome" EXACT [Orphanet:404443] synonym: "Tatton-Brown-Rahman overgrowth syndrome" EXACT [Orphanet:404443] synonym: "TATTON-BROWN-Rahman syndrome" RELATED [MONDO:Lexical, OMIM:615879] synonym: "TBRS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615879] xref: DOID:0112339 {source="MONDO:equivalentTo"} xref: OMIM:615879 {source="Orphanet:404443/e", source="MONDO:equivalentTo", source="Orphanet:404443"} xref: Orphanet:404443 {source="MONDO:equivalentTo", source="OMIM:615879"} xref: SCTID:768843007 {source="MONDO:equivalentTo"} xref: UMLS:C4014545 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015159 {source="Orphanet:404443"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0800091 {source="PMID:31633310"} ! overgrowth or tall stature syndrome with skeletal involvement property_value: exactMatch DOID:0112339 property_value: exactMatch http://identifiers.org/snomedct/768843007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014545 property_value: exactMatch https://omim.org/entry/615879 property_value: exactMatch Orphanet:404443 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:404443"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6263 xsd:anyURI [Term] id: MONDO:0014386 name: platelet-type bleeding disorder 18 def: "Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported." [Orphanet:420566] subset: ordo_disease {source="Orphanet:420566"} synonym: "BDPLT18" EXACT ABBREVIATION [DOID:0111051, MONDO:Lexical, OMIM:615888] synonym: "bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency" EXACT [DOID:0111051, Orphanet:420566] synonym: "bleeding disorder due to CalDAG-GEFI deficiency" EXACT [DOID:0111051] synonym: "bleeding disorder, platelet-type, 18" RELATED [MONDO:Lexical, OMIM:615888] synonym: "inherited bleeding disorder, platelet-type caused by mutation in RASGRP2" EXACT [MONDO:design_pattern] synonym: "platelet-type bleeding disorder 18" EXACT [] synonym: "RASGRP2 inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111051 {source="MONDO:equivalentTo"} xref: OMIM:615888 {source="Orphanet:420566", source="MONDO:equivalentTo", source="DOID:0111051", source="Orphanet:420566/e"} xref: Orphanet:420566 {source="OMIM:615888", source="MONDO:equivalentTo", source="DOID:0111051"} xref: UMLS:C4014584 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000009 {source="DC-OMIM:615888", source="MONDO:0017142-obsoleted", source="MONDO:Redundant", source="OMIM:615888"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0021181 {source="MONDO:0017142-obsoleted"} ! inherited blood coagulation disorder property_value: exactMatch DOID:0111051 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014584 property_value: exactMatch https://omim.org/entry/615888 property_value: exactMatch Orphanet:420566 [Term] id: MONDO:0014388 name: familial median cleft of the upper and lower lips def: "Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family." [Orphanet:401942] subset: ordo_malformation_syndrome {source="Orphanet:401942"} synonym: "OFC14" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615892] synonym: "orofacial cleft 14" RELATED [MONDO:Lexical, OMIM:615892] xref: DOID:0080407 {source="MONDO:equivalentTo"} xref: OMIM:615892 {source="Orphanet:401942", source="MONDO:equivalentTo", source="Orphanet:401942/e"} xref: Orphanet:401942 {source="MONDO:equivalentTo", source="OMIM:615892"} is_a: MONDO:0000358 {source="DC-OMIM:615892"} ! orofacial cleft is_a: MONDO:0015412 {source="Orphanet:401942"} ! median facial cleft is_a: MONDO:0015961 {source="Orphanet:401942", source="Orphanet:401942/inferred"} ! hereditary head and neck malformation property_value: exactMatch DOID:0080407 property_value: exactMatch https://omim.org/entry/615892 property_value: exactMatch Orphanet:401942 [Term] id: MONDO:0014389 name: polyglucosan body myopathy 1 with or without immunodeficiency def: "A rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported." [Orphanet:397937] subset: ordo_disease {source="Orphanet:397937"} synonym: "PGBM1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615895, Orphanet:397937] synonym: "polyglucosan body myopathy 1 with or without immunodeficiency" EXACT [MONDO:Lexical, OMIM:615895] synonym: "polyglucosan body myopathy type 1" EXACT [MONDO:0018348] synonym: "polyglucosan body myopathy, early-onset, with or without immunodeficiency" EXACT [OMIM:615895] xref: OMIM:615895 {source="MONDO:equivalentTo", source="Orphanet:397937/ntbt", source="Orphanet:397937"} xref: Orphanet:329173 {source="OMIM:615895", source="MONDO:relatedTo"} xref: Orphanet:397937 {source="OMIM:615895", source="MONDO:equivalentTo"} xref: UMLS:C4014605 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000192 {source="DC-OMIM:615895", source="OMIM:615895"} ! polyglucosan body myopathy is_a: MONDO:0002412 {source="Orphanet:397937", source="PMID:33340416"} ! disorder of glycogen metabolism property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014605 property_value: exactMatch https://omim.org/entry/615895 property_value: exactMatch Orphanet:397937 property_value: excluded_subClassOf MONDO:0016334 {source="Orphanet:397937"} property_value: excluded_subClassOf MONDO:0019058 {source="Orphanet:397937"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2668 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0014391 name: severe combined immunodeficiency due to CTPS1 deficiency def: "Severe combined immunodeficiency (SCID) due to CTPS1 deficiency is a rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV), (including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens." [Orphanet:420573] subset: ordo_disease {source="Orphanet:420573"} synonym: "IMD24" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615897] synonym: "immunodeficiency 24" RELATED [MONDO:Lexical, OMIM:615897] synonym: "immunodeficiency type 24" EXACT [MONDORULE:2, OMIM:615897] synonym: "SCID due to CTPS1 deficiency" EXACT [Orphanet:420573] xref: DOID:0111938 {source="MONDO:equivalentTo"} xref: OMIM:615897 {source="Orphanet:420573", source="MONDO:equivalentTo", source="Orphanet:420573/e"} xref: Orphanet:420573 {source="OMIM:615897", source="MONDO:equivalentTo"} xref: SCTID:763623001 {source="MONDO:equivalentTo"} xref: UMLS:C4014617 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0044201 {source="Orphanet:420573"} ! T+ B+ severe combined immunodeficiency property_value: exactMatch DOID:0111938 property_value: exactMatch http://identifiers.org/snomedct/763623001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014617 property_value: exactMatch https://omim.org/entry/615897 property_value: exactMatch Orphanet:420573 [Term] id: MONDO:0014397 name: combined oxidative phosphorylation defect type 20 def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the VARS2 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:420728"} synonym: "combined oxidative phosphorylation deficiency 20" RELATED [MONDO:Lexical, OMIM:615917] synonym: "combined oxidative phosphorylation deficiency caused by mutation in VARS2" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 20" EXACT [MONDORULE:2, OMIM:615917] synonym: "COXPD20" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615917, Orphanet:420728] synonym: "VARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111478 {source="MONDO:equivalentTo"} xref: OMIM:615917 {source="Orphanet:420728/e", source="MONDO:equivalentTo", source="Orphanet:420728"} xref: Orphanet:420728 {source="MONDO:equivalentTo", source="OMIM:615917"} xref: UMLS:C4014660 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000732 {source="DC-OMIM:615917", source="MONDO:Redundant", source="OMIM:615917"} ! combined oxidative phosphorylation deficiency property_value: exactMatch DOID:0111478 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014660 property_value: exactMatch https://omim.org/entry/615917 property_value: exactMatch Orphanet:420728 [Term] id: MONDO:0014401 name: tall stature-scoliosis-macrodactyly of the great toes syndrome def: "Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis." [Orphanet:329191] subset: ordo_disease {source="Orphanet:329191"} synonym: "ECDM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615923] synonym: "epiphyseal chondrodysplasia, MIURA type" RELATED [MONDO:Lexical, OMIM:615923] synonym: "Miura type epiphyseal chondrodysplasia" RELATED [DOID:0070316] synonym: "tall stature-scoliosis-macrodactyly of the halluces syndrome" EXACT [Orphanet:329191] xref: DOID:0070316 {source="MONDO:equivalentTo"} xref: OMIM:615923 {source="Orphanet:329191", source="MONDO:equivalentTo", source="Orphanet:329191/e"} xref: Orphanet:329191 {source="MONDO:equivalentTo", source="OMIM:615923"} xref: UMLS:C4014690 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin is_a: MONDO:0800091 {source="PMID:31633310"} ! overgrowth or tall stature syndrome with skeletal involvement property_value: exactMatch DOID:0070316 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014690 property_value: exactMatch https://omim.org/entry/615923 property_value: exactMatch Orphanet:329191 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0014402 name: severe neurodegenerative syndrome with lipodystrophy subset: ordo_disease {source="Orphanet:363400"} synonym: "encephalopathy, progressive, with or without lipodystrophy" RELATED [MONDO:Lexical, OMIM:615924] synonym: "PELD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615924] synonym: "severe neurodegenerative syndrome due to BSCL2 deficiency" EXACT [Orphanet:363400] xref: OMIM:615924 {source="MONDO:equivalentTo", source="Orphanet:363400", source="Orphanet:363400/e"} xref: Orphanet:363400 {source="MONDO:equivalentTo", source="OMIM:615924"} xref: UMLS:C4014700 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0020087 {source="Orphanet:363400"} ! hereditary lipodystrophy is_a: MONDO:0024237 {source="Orphanet:363400"} ! inherited neurodegenerative disorder is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014700 property_value: exactMatch https://omim.org/entry/615924 property_value: exactMatch Orphanet:363400 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5671 xsd:anyURI [Term] id: MONDO:0014403 name: short stature due to GHSR deficiency def: "Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported." [Orphanet:314811] subset: ordo_disease {source="Orphanet:314811"} synonym: "GHDP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615925] synonym: "ghrelin receptor deficiency" EXACT [Orphanet:314811] synonym: "growth hormone deficiency, isolated partial" RELATED [MONDO:Lexical, OMIM:615925] synonym: "short stature due to growth hormone secretagogue receptor deficiency" EXACT [Orphanet:314811] xref: OMIM:615925 {source="Orphanet:314811", source="MONDO:equivalentTo", source="Orphanet:314811/e"} xref: Orphanet:314811 {source="MONDO:equivalentTo", source="OMIM:615925"} xref: SCTID:766817004 {source="MONDO:equivalentTo"} is_a: MONDO:0019824 {source="Orphanet:314811"} ! non-acquired pituitary hormone deficiency property_value: exactMatch http://identifiers.org/snomedct/766817004 property_value: exactMatch https://omim.org/entry/615925 property_value: exactMatch Orphanet:314811 [Term] id: MONDO:0014404 name: Webb-Dattani syndrome synonym: "hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome" EXACT [Orphanet:370006] synonym: "hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies" RELATED [OMIM:615926] synonym: "WEBB-Dattani syndrome" RELATED [OMIM:615926] synonym: "Webb-Dattani syndrome" EXACT [MONDO:Lexical, OMIM:615926] synonym: "WEDAS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615926] xref: OMIM:615926 {source="MONDO:equivalentTo"} xref: Orphanet:370006 {source="MONDO:equivalentObsolete", source="OMIM:615926"} xref: UMLS:C4014708 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0000508 {source="Orphanet:370006/inferred"} ! genetic disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014708 property_value: exactMatch https://omim.org/entry/615926 [Term] id: MONDO:0014405 name: STING-associated vasculopathy with onset in infancy def: "STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation." [Orphanet:425120] subset: gard_rare {source="GARD:0012357"} subset: ordo_disease {source="Orphanet:425120"} synonym: "SAVI" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615934, Orphanet:425120] synonym: "STING-associated vasculopathy, infantile-onset" RELATED [MONDO:Lexical, OMIM:615934] xref: DOID:0111457 {source="MONDO:equivalentTo"} xref: ICD9:279.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:615934 {source="Orphanet:425120/e", source="MONDO:equivalentTo", source="Orphanet:425120"} xref: Orphanet:425120 {source="MONDO:equivalentTo"} xref: SCTID:711164003 {source="MONDO:equivalentTo"} xref: UMLS:C4014722 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4040879 {source="MONDO:equivalentTo"} is_a: MONDO:0015490 {source="Orphanet:425120"} ! predominantly small-vessel vasculitis is_a: MONDO:0018782 {source="Orphanet:425120"} ! type 1 interferonopathy property_value: exactMatch DOID:0111457 property_value: exactMatch http://identifiers.org/snomedct/711164003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014722 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4040879 property_value: exactMatch https://omim.org/entry/615934 property_value: exactMatch Orphanet:425120 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12357/sting-associated-vasculopathy-with-onset-in-infancy xsd:anyURI {source="GARD:0012357"} [Term] id: MONDO:0014407 name: megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 def: "Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the AKT3 gene." [MONDO:patterns/disease_series_by_gene] synonym: "AKT3 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2" EXACT [MONDO:Lexical, OMIM:615937] synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2" EXACT [MONDORULE:1, OMIM:615937] synonym: "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in AKT3" EXACT [MONDO:design_pattern] synonym: "MPPH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615937] xref: OMIM:615937 {source="MONDO:equivalentTo"} xref: UMLS:C4014738 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019375 {source="DC-OMIM:615937", source="MONDO:Redundant", source="OMIM:615937"} ! megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014738 property_value: exactMatch https://omim.org/entry/615937 [Term] id: MONDO:0014408 name: megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 def: "Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the CCND2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "CCND2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3" EXACT [MONDO:Lexical, OMIM:615938] synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 3" EXACT [MONDORULE:1, OMIM:615938] synonym: "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in CCND2" EXACT [MONDO:design_pattern] synonym: "MPPH3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615938] xref: OMIM:615938 {source="MONDO:equivalentTo"} xref: UMLS:C4014742 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019375 {source="DC-OMIM:615938", source="MONDO:Redundant", source="OMIM:615938"} ! megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014742 property_value: exactMatch https://omim.org/entry/615938 [Term] id: MONDO:0014410 name: spinocerebellar ataxia type 37 def: "Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by a cerebellar syndrome along with altered vertical eye movements." [Orphanet:363710] subset: ordo_disease {source="Orphanet:363710"} synonym: "SCA37" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615945, Orphanet:363710] synonym: "spinocerebellar ataxia 37" RELATED [MONDO:Lexical, OMIM:615945] synonym: "spinocerebellar ataxia with altered vertical eye movements" EXACT [Orphanet:363710] xref: DOID:0050984 {source="MONDO:equivalentTo"} xref: OMIM:615945 {source="DOID:0050984", source="MONDO:equivalentTo", source="Orphanet:363710", source="Orphanet:363710/e"} xref: Orphanet:363710 {source="MONDO:equivalentTo", source="OMIM:615945"} xref: SCTID:719301002 {source="MONDO:equivalentTo"} xref: UMLS:C3889636 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4304821 {source="MONDO:equivalentObsolete"} is_a: MONDO:0019792 {source="Orphanet:363710"} ! autosomal dominant cerebellar ataxia type I property_value: exactMatch DOID:0050984 property_value: exactMatch http://identifiers.org/snomedct/719301002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3889636 property_value: exactMatch https://omim.org/entry/615945 property_value: exactMatch Orphanet:363710 [Term] id: MONDO:0014413 name: orofaciodigital syndrome type 14 def: "Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated." [Orphanet:434179] subset: ordo_malformation_syndrome {source="Orphanet:434179"} synonym: "C2CD3 orofaciodigital syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "microcephaly-cerebral malformation-orofaciodigital syndrome" EXACT [Orphanet:434179] synonym: "OFD14" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615948, Orphanet:434179] synonym: "oral-facial-digital syndrome type 14" EXACT [Orphanet:434179] synonym: "orofaciodigital syndrome 14" RELATED [OMIM:615948] synonym: "orofaciodigital syndrome caused by mutation in C2CD3" EXACT [MONDO:design_pattern] synonym: "orofaciodigital syndrome type 14" EXACT [MONDORULE:2, OMIM:615948] synonym: "orofaciodigital syndrome XIV" RELATED [MONDO:Lexical, OMIM:615948] xref: OMIM:615948 {source="Orphanet:434179", source="MONDO:equivalentTo", source="Orphanet:434179/e"} xref: Orphanet:434179 {source="MONDO:equivalentTo", source="OMIM:615948"} xref: SCTID:763837007 {source="MONDO:equivalentTo"} xref: UMLS:C4014780 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015159 {source="Orphanet:434179"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015375 {source="DC-OMIM:615948", source="MONDO:Redundant", source="Orphanet:434179"} ! orofaciodigital syndrome property_value: exactMatch http://identifiers.org/snomedct/763837007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014780 property_value: exactMatch https://omim.org/entry/615948 property_value: exactMatch Orphanet:434179 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:434179"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0014415 name: kallikrein, decreased urinary activity of synonym: "kallikrein, decreased urinary activity of" EXACT [OMIM:615953, OMIM:genemap2] xref: MESH:C563653 {source="MONDO:equivalentTo"} xref: OMIM:615953 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="MESH:C563653/inferred"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C563653 property_value: exactMatch https://omim.org/entry/615953 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0014418 name: myopathy, centronuclear, 5 def: "Any autosomal recessive centronuclear myopathy in which the cause of the disease is a mutation in the SPEG gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive centronuclear myopathy caused by mutation in SPEG" EXACT [MONDO:design_pattern] synonym: "centronuclear myopathy 5" EXACT [OMIM:615959, OMIM:genemap2] synonym: "CNM5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615959] synonym: "myopathy, centronuclear, 5" EXACT [MONDO:Lexical, OMIM:615959] synonym: "myopathy, centronuclear, type 5" EXACT [MONDORULE:1, OMIM:615959] synonym: "SPEG autosomal recessive centronuclear myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111222 {source="MONDO:equivalentTo"} xref: OMIM:615959 {source="MONDO:equivalentTo"} xref: UMLS:C4014814 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015705 {source="MONDO:Redundant", source="Orphanet:169186/btnt"} ! autosomal recessive centronuclear myopathy property_value: exactMatch DOID:0111222 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014814 property_value: exactMatch https://omim.org/entry/615959 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0014419 name: ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome def: "Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development, and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy, and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease." [Orphanet:370022] subset: ordo_disease {source="Orphanet:370022"} synonym: "ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome" EXACT [] synonym: "PORETTI-Boltshauser syndrome" RELATED [MONDO:Lexical, OMIM:615960] synonym: "Poretti-Boltshauser syndrome" EXACT [Orphanet:370022] synonym: "PTBHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615960] xref: OMIM:615960 {source="MONDO:equivalentTo", source="Orphanet:370022", source="Orphanet:370022/e"} xref: Orphanet:370022 {source="OMIM:615960", source="MONDO:equivalentTo"} xref: UMLS:C4014821 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0020022 ! central nervous system malformation relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014821 property_value: exactMatch https://omim.org/entry/615960 property_value: exactMatch Orphanet:370022 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:370022"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0014420 name: short stature due to primary acid-labile subunit deficiency def: "Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity." [Orphanet:140941] subset: ordo_disease {source="Orphanet:140941"} synonym: "acid-labile SUBUNIT deficiency" RELATED [MONDO:Lexical, OMIM:615961] synonym: "acid-labile subunit, deficiency of" EXACT [OMIM:615961, OMIM:genemap2] synonym: "ACLSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615961] xref: OMIM:615961 {source="Orphanet:140941/e", source="MONDO:equivalentTo", source="Orphanet:140941"} xref: Orphanet:140941 {source="OMIM:615961", source="MONDO:equivalentTo"} xref: SCTID:721074002 {source="MONDO:equivalentTo"} xref: UMLS:C3900122 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015892 {source="Orphanet:140941"} ! growth hormone insensitivity syndrome property_value: exactMatch http://identifiers.org/snomedct/721074002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3900122 property_value: exactMatch https://omim.org/entry/615961 property_value: exactMatch Orphanet:140941 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0014421 name: glucocorticoid resistance subset: gard_rare {source="GARD:0002499"} subset: ordo_disease {source="Orphanet:786"} synonym: "cortisol resistance from glucocorticoid receptor defect" RELATED [OMIM:615962] synonym: "GCCR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615962] synonym: "Gccr deficiency" RELATED [OMIM:615962] synonym: "Gcr deficiency" RELATED [OMIM:615962] synonym: "glucocorticoid receptor deficiency" RELATED [OMIM:615962] synonym: "glucocorticoid resistance, generalised" RELATED OMO:0003005 [] synonym: "glucocorticoid resistance, generalized" RELATED [MONDO:Lexical, OMIM:615962] synonym: "Grl deficiency" RELATED [OMIM:615962] xref: MESH:C564221 {source="MONDO:equivalentTo"} xref: OMIM:615962 {source="Orphanet:786", source="MONDO:equivalentTo", source="Orphanet:786/e"} xref: Orphanet:786 {source="OMIM:615962", source="MONDO:equivalentTo"} xref: UMLS:C1841972 {source="Orphanet:786", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0015898 {source="Orphanet:786"} ! adrenogenital syndrome is_a: MONDO:0019593 {source="Orphanet:786"} ! 46,XX disorder of sex development induced by fetal androgens excess property_value: exactMatch http://identifiers.org/mesh/C564221 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1841972 property_value: exactMatch https://omim.org/entry/615962 property_value: exactMatch Orphanet:786 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2499/glucocorticoid-resistance xsd:anyURI {source="GARD:0002499"} [Term] id: MONDO:0014423 name: severe combined immunodeficiency due to DNA-PKcs deficiency def: "Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation." [Orphanet:317425] subset: ordo_disease {source="Orphanet:317425"} synonym: "IMD26" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615966] synonym: "immunodeficiency 26 with or without neurologic abnormalities" RELATED [MONDO:Lexical, OMIM:615966] synonym: "immunodeficiency 26, with or without neurologic abnormalities" EXACT [OMIM:615966, OMIM:genemap2] synonym: "SCID due to DNA-PKcs deficiency" EXACT [Orphanet:317425] xref: DOID:0111961 {source="MONDO:equivalentTo"} xref: OMIM:615966 {source="Orphanet:317425", source="MONDO:equivalentTo", source="Orphanet:317425/e"} xref: Orphanet:317425 {source="MONDO:equivalentTo", source="OMIM:615966"} xref: SCTID:716871006 {source="MONDO:equivalentTo"} xref: UMLS:C4014833 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0017855 {source="Orphanet:317425", source="PMID:31953710"} ! T-B- severe combined immunodeficiency property_value: exactMatch DOID:0111961 property_value: exactMatch http://identifiers.org/snomedct/716871006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014833 property_value: exactMatch https://omim.org/entry/615966 property_value: exactMatch Orphanet:317425 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0014428 name: autosomal recessive nonsyndromic hearing loss 102 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the EPS8 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive deafness 102" NARROW [DOID:0110463] synonym: "autosomal recessive nonsyndromic deafness 102" NARROW [OMIM:615974] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in EPS8" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 102" NARROW [DOID:0110463, MONDORULE:2] synonym: "deafness, autosomal recessive 102" NARROW [MONDO:Lexical, OMIM:615974, OMIM:genemap2] synonym: "deafness, autosomal recessive type 102" NARROW [MONDORULE:2, OMIM:615974] synonym: "DFNB102" NARROW ABBREVIATION [DOID:0110463, MONDO:Lexical, OMIM:615974] synonym: "EPS8 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110463 {source="MONDO:equivalentTo"} xref: OMIM:615974 {source="MONDO:equivalentTo", source="DOID:0110463"} xref: UMLS:C3892050 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019588 {source="DC-OMIM:615974", source="DOID:0110463", source="MONDO:Redundant", source="OMIM:615974"} ! hearing loss, autosomal recessive property_value: exactMatch DOID:0110463 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3892050 property_value: exactMatch https://omim.org/entry/615974 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/551 xsd:anyURI [Term] id: MONDO:0014429 name: autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency def: "A genetic variant of Mendelian susceptibility to mycobacterial disease characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM)." [Orphanet:319581] {source="https://orcid.org/0000-0001-5208-3432"} subset: ordo_disease {source="Orphanet:319581"} subset: predisposition synonym: "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1" EXACT [] synonym: "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency" EXACT [Orphanet:319581] synonym: "autosomal dominant MSMD due to partial IFNgammaR1 deficiency" EXACT [Orphanet:319581] synonym: "autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency" EXACT [Orphanet:319581] synonym: "IFNGR1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "IFNGR1 deficiency, autosomal dominant" EXACT [OMIM:615978] synonym: "IMD27B" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615978] synonym: "immunodeficiency 27B" EXACT [MONDO:Lexical, OMIM:615978] synonym: "immunodeficiency 27B, mycobacteriosis, AD" EXACT [OMIM:615978, OMIM:genemap2] synonym: "immunodeficiency 27B, Mycobacteriosis, autosomal dominant" EXACT [OMIM:615978] synonym: "immunodeficiency type 27B" EXACT [MONDORULE:4, OMIM:615978] xref: DOID:0111956 {source="MONDO:equivalentTo"} xref: OMIM:615978 {source="Orphanet:319581", source="MONDO:equivalentTo", source="Orphanet:319581/e"} xref: Orphanet:319581 {source="MONDO:equivalentTo", source="OMIM:615978"} xref: UMLS:C4014863 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019146 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited susceptibility to mycobacterial diseases property_value: exactMatch DOID:0111956 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014863 property_value: exactMatch https://omim.org/entry/615978 property_value: exactMatch Orphanet:319581 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0014431 name: LIPE-related familial partial lipodystrophy subset: gard_rare {source="GARD:0013126"} subset: ordo_disease {source="Orphanet:435660"} synonym: "familial partial lipodystrophy associated with LIPE mutations" EXACT [DOID:0070206] synonym: "familial partial lipodystrophy type 6" RELATED [DOID:0070206] synonym: "FPLD6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615980, Orphanet:435660] synonym: "LIPE-related FPLD" EXACT [Orphanet:435660] synonym: "lipodystrophy, familial partial, associated with Lipe mutations" RELATED [OMIM:615980] synonym: "lipodystrophy, familial partial, type 6" RELATED [GARD:0013126, MONDO:Lexical, OMIM:615980] xref: DOID:0070206 {source="MONDO:equivalentTo"} xref: OMIM:615980 {source="Orphanet:435660/e", source="MONDO:equivalentTo", source="Orphanet:435660"} xref: Orphanet:435660 {source="MONDO:equivalentTo"} xref: UMLS:C4014869 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000816 {source="DC-OMIM:615980"} ! abdominal obesity-metabolic syndrome is_a: MONDO:0020088 {source="OMIM:615980", source="Orphanet:435660"} ! familial partial lipodystrophy property_value: exactMatch DOID:0070206 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014869 property_value: exactMatch https://omim.org/entry/615980 property_value: exactMatch Orphanet:435660 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13126/lipe-related-familial-partial-lipodystrophy xsd:anyURI {source="GARD:0013126"} [Term] id: MONDO:0014444 name: Bardet-Biedl syndrome 16 def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene." [MONDO:patterns/disease_series_by_gene] subset: clingen synonym: "Bardet-Biedl syndrome 16" EXACT [MONDO:Lexical, OMIM:615993] synonym: "Bardet-Biedl syndrome caused by mutation in SDCCAG8" EXACT [MONDO:design_pattern] synonym: "Bardet-Biedl syndrome type 16" EXACT [DOID:0110138, MONDORULE:2, OMIM:615993] synonym: "BBS16" EXACT ABBREVIATION [DOID:0110138, MONDO:Lexical, OMIM:615993] synonym: "SDCCAG8 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110138 {source="MONDO:equivalentTo"} xref: OMIM:615993 {source="DOID:0110138", source="MONDO:equivalentTo"} xref: UMLS:C3889474 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015229 {source="DC-OMIM:615993", source="DOID:0110138", source="MONDO:Redundant", source="OMIM:615993"} ! Bardet-Biedl syndrome property_value: exactMatch DOID:0110138 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3889474 property_value: exactMatch https://omim.org/entry/615993 [Term] id: MONDO:0014449 name: congenital analbuminemia def: "Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA)." [Orphanet:86816] subset: gard_rare {source="GARD:0013056"} subset: ordo_disease {source="Orphanet:86816"} synonym: "ANALBA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616000] synonym: "analbuminemia" RELATED [GARD:0013056, MONDO:Lexical, OMIM:616000] xref: NCIT:C124851 {source="MONDO:equivalentTo"} xref: OMIM:616000 {source="Orphanet:86816/e", source="MONDO:equivalentTo", source="Orphanet:86816"} xref: Orphanet:86816 {source="MONDO:equivalentTo", source="OMIM:616000"} xref: SCTID:718721006 {source="MONDO:equivalentTo"} xref: UMLS:C4305253 {source="MONDO:equivalentTo"} is_a: MONDO:0009332 ! congenital hematological disorder property_value: exactMatch http://identifiers.org/snomedct/718721006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305253 property_value: exactMatch https://omim.org/entry/616000 property_value: exactMatch NCIT:C124851 property_value: exactMatch Orphanet:86816 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13056/congenital-analbuminemia xsd:anyURI {source="GARD:0013056"} [Term] id: MONDO:0014450 name: breasts and/or nipples, aplasia or hypoplasia of, 2 def: "Any isolated congenital breast hypoplasia/aplasia in which the cause of the disease is a mutation in the PTPRF gene." [MONDO:patterns/disease_series_by_gene] synonym: "BNAH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616001] synonym: "breasts and/or nipples, aplasia or hypoplasia of, 2" EXACT [MONDO:Lexical, OMIM:616001] synonym: "breasts and/or nipples, aplasia or hypoplasia of, type 2" EXACT [MONDORULE:1, OMIM:616001] synonym: "isolated congenital breast hypoplasia/aplasia caused by mutation in PTPRF" EXACT [MONDO:design_pattern] synonym: "PTPRF isolated congenital breast hypoplasia/aplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: OMIM:616001 {source="MONDO:equivalentTo"} xref: UMLS:C4014918 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015855 {source="MONDO:Redundant", source="OMIM:616001", source="Orphanet:180188/btnt"} ! isolated congenital breast hypoplasia/aplasia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014918 property_value: exactMatch https://omim.org/entry/616001 [Term] id: MONDO:0014452 name: familial dysfibrinogenemia def: "Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen." [Orphanet:98881] subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:98881"} synonym: "congenital dysfibrinogenemia" RELATED [GARD:0002004] synonym: "dysfibrinogenemia" EXACT [NCIT:C131659] synonym: "dysfibrinogenemia, congenital" RELATED [OMIM:616004] synonym: "dysfibrinogenemia, familial" RELATED [GARD:0002004] synonym: "familial dysfibrinogenemia" EXACT [GARD:0002004] synonym: "hypodysfibrinogenemia" EXACT [OMIM:616004, OMIM:genemap2] synonym: "hypodysfibrinogenemia, congenital" RELATED [OMIM:616004] xref: ICD9:286.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C131659 {source="MONDO:equivalentTo"} xref: OMIM:616004 {source="GARD:0002004", source="Orphanet:98881/e", source="MONDO:equivalentTo", source="Orphanet:98881"} xref: Orphanet:98881 {source="OMIM:616004", source="GARD:0002004", source="MONDO:equivalentTo"} xref: SCTID:111589005 {source="MONDO:equivalentTo"} xref: UMLS:C1260903 {source="NCIT:C131659", source="MONDO:equivalentTo"} xref: UMLS:CN207171 {source="MONDO:equivalentTo"} is_a: MONDO:0018060 {source="Orphanet:98881"} ! congenital fibrinogen deficiency property_value: exactMatch http://identifiers.org/snomedct/111589005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1260903 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207171 property_value: exactMatch https://omim.org/entry/616004 property_value: exactMatch NCIT:C131659 property_value: exactMatch Orphanet:98881 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2004/dysfibrinogenemia xsd:anyURI {source="GARD:0002004"} [Term] id: MONDO:0014453 name: immunodeficiency 36 synonym: "IMD36" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616005] synonym: "immunodeficiency 36" EXACT [MONDO:Lexical, OMIM:616005] synonym: "immunodeficiency type 36" EXACT [MONDORULE:2, OMIM:616005] xref: DOID:0111949 {source="MONDO:equivalentTo"} xref: OMIM:616005 {source="MONDO:equivalentTo"} xref: UMLS:C4014934 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018338 {source="Orphanet:397596/btnt"} ! activated PI3K-delta syndrome property_value: exactMatch DOID:0111949 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014934 property_value: exactMatch https://omim.org/entry/616005 [Term] id: MONDO:0014454 name: Hennekam lymphangiectasia-lymphedema syndrome 2 def: "Any Hennekam syndrome in which the cause of the disease is a mutation in the FAT4 gene." [MONDO:patterns/disease_series_by_gene] synonym: "FAT4 Hennekam syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Hennekam lymphangiectasia-lymphedema syndrome 2" EXACT [MONDO:Lexical, OMIM:616006] synonym: "Hennekam lymphangiectasia-lymphedema syndrome type 2" EXACT [MONDORULE:1, OMIM:616006] synonym: "Hennekam syndrome caused by mutation in FAT4" EXACT [MONDO:design_pattern] synonym: "HKLLS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616006] xref: OMIM:616006 {source="MONDO:equivalentTo"} xref: UMLS:C4014939 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0016256 {source="DC-OMIM:616006", source="MONDO:Redundant"} ! Hennekam syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014939 property_value: exactMatch https://omim.org/entry/616006 [Term] id: MONDO:0014455 name: cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome subset: ordo_disease {source="Orphanet:436174"} synonym: "CAGSSS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616007, Orphanet:436174] synonym: "cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia" RELATED [MONDO:Lexical, OMIM:616007] xref: OMIM:616007 {source="MONDO:equivalentTo", source="Orphanet:436174", source="Orphanet:436174/e"} xref: Orphanet:436174 {source="MONDO:equivalentTo"} xref: UMLS:C4014942 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015514 {source="Orphanet:436174"} ! hereditary endocrine growth disease is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0016761 {source="Orphanet:436174", source="PMID:31633310"} ! spondyloepiphyseal dysplasia is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014942 property_value: exactMatch https://omim.org/entry/616007 property_value: exactMatch Orphanet:436174 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0014456 name: autosomal recessive severe congenital neutropenia due to JAGN1 deficiency subset: ordo_disease {source="Orphanet:423384"} synonym: "neutropenia, severe congenital, 6, autosomal recessive" RELATED [MONDO:Lexical, OMIM:616022] synonym: "SCN6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616022] xref: DOID:0112134 {source="MONDO:equivalentTo"} xref: OMIM:616022 {source="Orphanet:423384/e", source="MONDO:equivalentTo", source="Orphanet:423384"} xref: Orphanet:423384 {source="MONDO:equivalentTo", source="OMIM:616022"} xref: UMLS:C4014954 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0028226 ! autosomal recessive severe congenital neutropenia property_value: exactMatch DOID:0112134 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014954 property_value: exactMatch https://omim.org/entry/616022 property_value: exactMatch Orphanet:423384 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0014464 name: progressive encephalopathy with leukodystrophy due to DECR deficiency def: "Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop." [Orphanet:431361] subset: ordo_disease {source="Orphanet:431361"} synonym: "2,4-alpha dienoyl-CoA reductase deficiency" RELATED [GARD:0010327] synonym: "2,4-dienoyl-CoA reductase deficiency" EXACT [MONDO:Lexical, OMIM:616034, Orphanet:431361] synonym: "DECR deficiency with hyperlysinemia" EXACT [Orphanet:431361] synonym: "DECRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616034] synonym: "dienoyl-CoA reductase deficiency" RELATED [GARD:0010327] synonym: "progressive encephalopathy with leukodystrophy due to DECR deficiency" EXACT [] xref: MESH:C565624 {source="MONDO:equivalentTo"} xref: OMIM:616034 {source="Orphanet:431361/e", source="MONDO:equivalentTo", source="Orphanet:431361"} xref: Orphanet:431361 {source="MONDO:equivalentTo", source="OMIM:616034"} xref: UMLS:C1857252 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:431361"} is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis is_a: MONDO:0019046 {source="Orphanet:431361"} ! leukodystrophy property_value: exactMatch http://identifiers.org/mesh/C565624 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857252 property_value: exactMatch https://omim.org/entry/616034 property_value: exactMatch Orphanet:431361 [Term] id: MONDO:0014470 name: autosomal dominant nonsyndromic hearing loss 65 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant deafness 65" NARROW [DOID:0110586] synonym: "autosomal dominant nonsyndromic deafness 65" NARROW [OMIM:616044] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in TBC1D24" NARROW [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 65" NARROW [DOID:0110586, MONDORULE:2] synonym: "deafness, autosomal dominant 65" NARROW [MONDO:Lexical, OMIM:616044, OMIM:genemap2] synonym: "deafness, autosomal dominant type 65" NARROW [MONDORULE:2, OMIM:616044] synonym: "DFNA65" NARROW ABBREVIATION [DOID:0110586, MONDO:Lexical, OMIM:616044] synonym: "TBC1D24 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110586 {source="MONDO:equivalentTo"} xref: OMIM:616044 {source="MONDO:equivalentTo", source="DOID:0110586"} xref: UMLS:C3892048 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019587 {source="DC-OMIM:616044", source="DOID:0110586", source="MONDO:Redundant", source="OMIM:616044"} ! autosomal dominant nonsyndromic hearing loss property_value: exactMatch DOID:0110586 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3892048 property_value: exactMatch https://omim.org/entry/616044 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/551 xsd:anyURI [Term] id: MONDO:0014471 name: mitochondrial proton-transporting ATP synthase complex deficiency def: "A rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS)." [Orphanet:254913] comment: Consider splitting out nuclear type for OMIMPS subset: ordo_disease {source="Orphanet:254913"} synonym: "isolated ATP synthase deficiency" NARROW [Orphanet:254913] synonym: "isolated mitochondrial respiratory chain complex V deficiency" NARROW [Orphanet:254913] synonym: "mitochondrial complex V (ATP synthase) deficiency" EXACT [DOID:0111143] xref: DOID:0111143 {source="MONDO:equivalentTo"} xref: OMIMPS:604273 {source="MONDO:equivalentTo"} xref: Orphanet:254913 {source="MONDO:equivalentTo", source="OMIM:616045"} xref: UMLS:C4015062 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000732 {source="DC-OMIM:616045", source="OMIM:616045"} ! combined oxidative phosphorylation deficiency property_value: exactMatch DOID:0111143 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015062 property_value: exactMatch https://omim.org/phenotypicSeries/PS604273 property_value: exactMatch Orphanet:254913 property_value: excluded_subClassOf MONDO:0016805 {source="Orphanet:254913"} [Term] id: MONDO:0014472 name: periodic fever-infantile enterocolitis-autoinflammatory syndrome subset: ordo_disease {source="Orphanet:436166"} synonym: "AIFEC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616050] synonym: "AUTOINFLAMMATION with infantile enterocolitis" RELATED [MONDO:Lexical, OMIM:616050] synonym: "autoinflammation with infantile enterocolitis" EXACT [Orphanet:436166] synonym: "NLRC4-related autoinflammatory syndrome with macrophage activation syndrome" EXACT [Orphanet:436166] synonym: "NLRC4-related autoinflammatory syndrome with MAS" EXACT [Orphanet:436166] synonym: "NLRC4-related infantile enterocolitis-autoinflammatory syndrome" EXACT [Orphanet:436166] synonym: "NLRC4-related macrophage activation syndrome" EXACT [Orphanet:436166] synonym: "NLRC4-related MAS" EXACT [Orphanet:436166] xref: OMIM:616050 {source="Orphanet:436166/e", source="MONDO:equivalentTo", source="Orphanet:436166"} xref: Orphanet:436166 {source="MONDO:equivalentTo"} xref: UMLS:C4015067 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0017953 {source="Orphanet:436166"} ! hereditary periodic fever syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015067 property_value: exactMatch https://omim.org/entry/616050 property_value: exactMatch Orphanet:436166 [Term] id: MONDO:0014474 name: autosomal recessive limb-girdle muscular dystrophy type 2U def: "Any autosomal recessive limb-girdle muscular dystrophy in which the cause of the disease is a mutation in the ISPD gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:352479"} synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in ISPD" EXACT [MONDO:design_pattern] synonym: "autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency" EXACT [DOID:0110295, Orphanet:352479] synonym: "ISPD autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "LGMD2U" EXACT ABBREVIATION [DOID:0110295, Orphanet:352479] synonym: "MDDGC7" EXACT ABBREVIATION [DOID:0110295, MONDO:Lexical, OMIM:616052] synonym: "muscular dystrophy limb-girdle type 2U" EXACT [DOID:0110295] synonym: "muscular dystrophy, limb-girdle, type 2U" RELATED [OMIM:616052] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C7" EXACT [DOID:0110295] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7" RELATED [MONDO:Lexical, OMIM:616052] xref: DOID:0110295 {source="MONDO:equivalentTo"} xref: OMIM:616052 {source="MONDO:equivalentTo", source="DOID:0110295", source="Orphanet:352479", source="Orphanet:352479/e"} xref: Orphanet:352479 {source="MONDO:equivalentTo", source="DOID:0110295", source="OMIM:616052"} xref: UMLS:C4015095 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000173 {source="DC-OMIM:616052", source="OMIM:616052"} ! muscular dystrophy-dystroglycanopathy, type C is_a: MONDO:0015152 {source="DOID:0110295", source="MONDO:Redundant", source="OMIM:616052", source="Orphanet:352479"} ! autosomal recessive limb-girdle muscular dystrophy is_a: MONDO:0016155 {source="Orphanet:352479"} ! qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan is_a: MONDO:0017745 {source="Orphanet:352479"} ! disorder of O-mannosylglycan synthesis property_value: exactMatch DOID:0110295 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015095 property_value: exactMatch https://omim.org/entry/616052 property_value: exactMatch Orphanet:352479 [Term] id: MONDO:0014476 name: episodic ataxia type 8 subset: ordo_disease {source="Orphanet:401953"} synonym: "EA8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616055] synonym: "episodic ataxia type 8" EXACT [Orphanet:401953] synonym: "episodic ataxia with slurred speech" RELATED [Orphanet:401953] synonym: "episodic ataxia, type 8" RELATED [MONDO:Lexical, OMIM:616055] xref: DOID:0050996 {source="MONDO:equivalentTo"} xref: OMIM:616055 {source="Orphanet:401953", source="MONDO:equivalentTo", source="DOID:0050996", source="Orphanet:401953/e"} xref: Orphanet:401953 {source="MONDO:equivalentTo", source="OMIM:616055"} xref: UMLS:C4015108 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0016227 {source="DOID:0050996", source="Orphanet:401953"} ! hereditary episodic ataxia property_value: exactMatch DOID:0050996 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015108 property_value: exactMatch https://omim.org/entry/616055 property_value: exactMatch Orphanet:401953 [Term] id: MONDO:0014478 name: mirror movements 3 def: "Any familial congenital mirror movements in which the cause of the disease is a mutation in the DNAL4 gene." [MONDO:patterns/disease_series_by_gene] synonym: "DNAL4 familial congenital mirror movements" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial congenital mirror movements caused by mutation in DNAL4" EXACT [MONDO:design_pattern] synonym: "mirror movements 3" EXACT [MONDO:Lexical, OMIM:616059] synonym: "mirror movements type 3" EXACT [MONDORULE:1, OMIM:616059] synonym: "MRMV3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616059] xref: OMIM:616059 {source="MONDO:equivalentTo"} xref: UMLS:C4015124 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0016558 {source="DC-OMIM:616059", source="MONDO:Redundant", source="OMIM:616059", source="Orphanet:238722/btnt"} ! familial congenital mirror movements property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015124 property_value: exactMatch https://omim.org/entry/616059 [Term] id: MONDO:0014481 name: inflammatory skin and bowel disease, neonatal, 2 def: "Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the EGFR gene." [MONDO:patterns/disease_series_by_gene] synonym: "EGFR neonatal inflammatory skin and bowel disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "inflammatory skin and bowel disease, neonatal, 2" EXACT [MONDO:Lexical, OMIM:616069] synonym: "inflammatory skin and bowel disease, neonatal, type 2" EXACT [MONDORULE:1, OMIM:616069] synonym: "neonatal inflammatory skin and bowel disease caused by mutation in EGFR" EXACT [MONDO:design_pattern] synonym: "NISBD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616069] xref: OMIM:616069 {source="MONDO:equivalentTo"} xref: UMLS:C4015130 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0017411 {source="DC-OMIM:616069", source="MONDO:Redundant", source="OMIM:616069", source="Orphanet:294023/btnt"} ! neonatal inflammatory skin and bowel disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015130 property_value: exactMatch https://omim.org/entry/616069 [Term] id: MONDO:0014482 name: intellectual disability, autosomal dominant 29 def: "Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the SETBP1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare synonym: "autosomal dominant intellectual disability 29" EXACT [DOID:0070059, GARD:0013379] synonym: "autosomal dominant mental retardation 29" EXACT DEPRECATED [DOID:0070059, GARD:0013379] synonym: "autosomal dominant non-syndromic intellectual disability 29" RELATED [DOID:0070059] synonym: "intellectual disability, autosomal dominant 29" EXACT [MONDO:Lexical, OMIM:616078] synonym: "intellectual disability, autosomal dominant type 29" EXACT [MONDORULE:2, OMIM:616078] synonym: "intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in SETBP1" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal dominant 29" RELATED DEPRECATED [MONDO:Lexical, OMIM:616078] synonym: "mental retardation, autosomal dominant type 29" EXACT DEPRECATED [MONDORULE:2, OMIM:616078] synonym: "MRD29" EXACT ABBREVIATION [DOID:0070059, MONDO:Lexical, OMIM:616078] synonym: "SETBP1 disorder" RELATED [GARD:0013379] synonym: "SETBP1 intellectual disability-expressive aphasia-facial dysmorphism syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SETBP1 related developmental delay" RELATED [GARD:0013379] synonym: "SETBP1-related disorder" RELATED [GARD:0013379] synonym: "SETBP1-related intellectual disability" RELATED [GARD:0013379] xref: DOID:0070059 {source="MONDO:equivalentTo"} xref: OMIM:616078 {source="GARD:0013379", source="MONDO:equivalentTo", source="DOID:0070059"} xref: UMLS:C4015141 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0018574 {source="MONDO:Redundant", source="Orphanet:436151/btnt"} ! intellectual disability-expressive aphasia-facial dysmorphism syndrome property_value: exactMatch DOID:0070059 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015141 property_value: exactMatch https://omim.org/entry/616078 property_value: excluded_subClassOf MONDO:0015802 {source="DOID:0070059"} [Term] id: MONDO:0014483 name: retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies subset: ordo_disease {source="Orphanet:397758"} synonym: "RDGCA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616079] synonym: "retinal dystrophy with inner nuclear layer and ganglion cell anomalies" EXACT [Orphanet:397758] synonym: "retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities" RELATED [MONDO:Lexical, OMIM:616079] xref: ICD10CM:H35.5 {source="Orphanet:397758", source="Orphanet:397758/attributed", source="Orphanet:397758/ntbt", source="MONDO:directSiblingOf"} xref: OMIM:616079 {source="Orphanet:397758/e", source="MONDO:equivalentTo", source="Orphanet:397758"} xref: Orphanet:397758 {source="MONDO:equivalentTo", source="OMIM:616079"} xref: UMLS:C4015146 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019118 {source="Orphanet:397758"} ! inherited retinal dystrophy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015146 property_value: exactMatch https://omim.org/entry/616079 property_value: exactMatch Orphanet:397758 [Term] id: MONDO:0014487 name: congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome def: "Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia, characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful." [Orphanet:369861] subset: ordo_disease {source="Orphanet:369861"} synonym: "sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay" RELATED OMO:0003005 [] synonym: "sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay" RELATED [MONDO:Lexical, OMIM:616084] synonym: "SIFD" EXACT ABBREVIATION [DOID:0080209, MONDO:Lexical, OMIM:616084] synonym: "SIFD syndrome" EXACT [Orphanet:369861] xref: DOID:0080209 {source="MONDO:equivalentTo"} xref: OMIM:616084 {source="Orphanet:369861/e", source="MONDO:equivalentTo", source="Orphanet:369861", source="DOID:0080209"} xref: Orphanet:369861 {source="MONDO:equivalentTo", source="OMIM:616084"} xref: UMLS:C4015172 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015132 {source="MONDO:0018041-obsoleted"} ! immunodeficiency predominantly affecting antibody production is_a: MONDO:0020099 {source="Orphanet:369861"} ! inherited sideroblastic anemia property_value: exactMatch DOID:0080209 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015172 property_value: exactMatch https://omim.org/entry/616084 property_value: exactMatch Orphanet:369861 [Term] id: MONDO:0014489 name: limb-girdle muscular dystrophy due to POMK deficiency def: "Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence." [Orphanet:445110] subset: ordo_disease {source="Orphanet:445110"} synonym: "LGMD due to POMK deficiency" EXACT [Orphanet:445110] synonym: "MDDGC12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616094] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12" RELATED [MONDO:Lexical, OMIM:616094] synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related" RELATED [OMIM:616094] xref: DOID:0112381 {source="MONDO:equivalentTo"} xref: OMIM:616094 {source="Orphanet:445110/e", source="MONDO:equivalentTo", source="Orphanet:445110"} xref: Orphanet:445110 {source="MONDO:equivalentTo"} xref: UMLS:C4015184 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000173 {source="DC-OMIM:616094", source="OMIM:616094"} ! muscular dystrophy-dystroglycanopathy, type C is_a: MONDO:0015152 {source="Orphanet:445110"} ! autosomal recessive limb-girdle muscular dystrophy is_a: MONDO:0016155 {source="Orphanet:445110"} ! qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan is_a: MONDO:0017745 {source="Orphanet:445110"} ! disorder of O-mannosylglycan synthesis property_value: exactMatch DOID:0112381 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015184 property_value: exactMatch https://omim.org/entry/616094 property_value: exactMatch Orphanet:445110 [Term] id: MONDO:0014493 name: autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency def: "A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V." [NCIT:C126341] subset: gard_rare {source="GARD:0012316"} subset: ordo_disease {source="Orphanet:436159"} synonym: "ALPS due to CTLA4 haploinsuffiency" EXACT [Orphanet:436159] synonym: "ALPS type 5" EXACT [Orphanet:436159] synonym: "ALPS type V" EXACT [Orphanet:436159] synonym: "ALPS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616100] synonym: "autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency" EXACT [] synonym: "autoimmune lymphoproliferative syndrome type 5" EXACT [Orphanet:436159] synonym: "autoimmune lymphoproliferative syndrome type V" EXACT [Orphanet:436159] synonym: "autoimmune lymphoproliferative syndrome, type 5" RELATED [OMIM:616100] synonym: "autoimmune lymphoproliferative syndrome, type V" RELATED [GARD:0012316, MONDO:Lexical, OMIM:616100] synonym: "chai" EXACT [Orphanet:436159] synonym: "CTLA-4 haploinsufficiency with autoimmune infiltration disease" EXACT [Orphanet:436159] synonym: "CTLA4 haploinsufficiency" EXACT [NCIT:C126341] synonym: "CTLA4 haploinsufficiency with autoimmune infiltration" RELATED [OMIM:616100] synonym: "immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation" EXACT [OMIM:616100, OMIM:genemap2] xref: NCIT:C126341 {source="MONDO:equivalentTo"} xref: OMIM:616100 {source="Orphanet:436159", source="MONDO:equivalentTo", source="Orphanet:436159/e"} xref: Orphanet:436159 {source="MONDO:equivalentTo"} xref: UMLS:C4015214 {source="NCIT:C126341", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0017979 {source="DC-OMIM:616100"} ! autoimmune lymphoproliferative syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015214 property_value: exactMatch https://omim.org/entry/616100 property_value: exactMatch NCIT:C126341 property_value: exactMatch Orphanet:436159 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12316/autoimmune-lymphoproliferative-syndrome-due-to-ctla4-haploinsuffiency xsd:anyURI {source="GARD:0012316"} [Term] id: MONDO:0014497 name: polyendocrine-polyneuropathy syndrome subset: ordo_disease {source="Orphanet:453533"} synonym: "PEPNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616113] synonym: "polyendocrine-polyneuropathy syndrome" EXACT [MONDO:Lexical, OMIM:616113] xref: OMIM:616113 {source="Orphanet:453533", source="MONDO:equivalentTo", source="Orphanet:453533/e"} xref: Orphanet:453533 {source="MONDO:equivalentTo"} xref: UMLS:C4015261 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015361 {source="Orphanet:453533"} ! autosomal recessive hereditary demyelinating motor and sensory neuropathy is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism is_a: MONDO:0015778 {source="Orphanet:453533"} ! syndromic hypothyroidism property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015261 property_value: exactMatch https://omim.org/entry/616113 property_value: exactMatch Orphanet:453533 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:453533"} property_value: excluded_subClassOf MONDO:0005015 {source="MONDO:0015888-obsoleted"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5723 xsd:anyURI [Term] id: MONDO:0014498 name: familial cold autoinflammatory syndrome 4 def: "Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRC4 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:576349"} synonym: "familial cold autoinflammatory syndrome 4" EXACT [MONDO:Lexical, OMIM:616115] synonym: "familial cold autoinflammatory syndrome caused by mutation in NLRC4" EXACT [MONDO:design_pattern] synonym: "familial cold autoinflammatory syndrome type 4" EXACT [DOID:0090065, MONDORULE:1, OMIM:616115] synonym: "FCAS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616115] synonym: "NLRC4 familial cold autoinflammatory syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "NLRC4-related familial cold autoinflammatory syndrome" EXACT [Orphanet:576349] xref: DOID:0090065 {source="MONDO:equivalentTo"} xref: OMIM:616115 {source="DOID:0090065", source="MONDO:equivalentTo"} xref: Orphanet:576349 {xref="MONDO:equivalentTo"} xref: UMLS:C4015276 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018768 {source="DC-OMIM:616115", source="DOID:0090065", source="MONDO:Redundant", source="OMIM:616115"} ! familial cold autoinflammatory syndrome property_value: exactMatch DOID:0090065 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015276 property_value: exactMatch https://omim.org/entry/616115 property_value: exactMatch Orphanet:576349 [Term] id: MONDO:0014502 name: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency def: "Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-GuC)rin (BCG) infections." [Orphanet:319563] comment: Editor note: In ORDO classified at type 1 interferonopathy but we exclude this, as it is an autoinflammatory disease subset: ordo_disease {source="Orphanet:319563"} subset: predisposition synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in ISG15" EXACT [] synonym: "IMD38" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616126] synonym: "immunodeficiency 38" EXACT [OMIM:616126, OMIM:genemap2] synonym: "immunodeficiency 38 with basal ganglia calcification" RELATED [MONDO:Lexical, OMIM:616126] synonym: "immunodeficiency 38, Mycobacteriosis, autosomal recessive" RELATED [OMIM:616126] synonym: "ISG15 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "ISG15 deficiency, autosomal recessive" RELATED [OMIM:616126] synonym: "MSMD due to complete ISG15 deficiency" EXACT [Orphanet:319563] xref: DOID:0111934 {source="MONDO:equivalentTo"} xref: OMIM:616126 {source="MONDO:equivalentTo", source="Orphanet:319563", source="Orphanet:319563/e"} xref: Orphanet:319563 {source="OMIM:616126", source="MONDO:equivalentTo"} xref: UMLS:C4015293 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019146 ! inherited susceptibility to mycobacterial diseases property_value: exactMatch DOID:0111934 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015293 property_value: exactMatch https://omim.org/entry/616126 property_value: exactMatch Orphanet:319563 property_value: excluded_subClassOf MONDO:0018782 {source="Orphanet:319563"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0014506 name: hypomyelinating leukodystrophy 9 def: "Any leukodystrophy in which the cause of the disease is a mutation in the RARS gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:438114"} synonym: "HLD9" EXACT ABBREVIATION [DOID:0060791, MONDO:Lexical, OMIM:616140] synonym: "hypomyelinating leukodystrophy type 9" EXACT [DOID:0060791, MONDORULE:1] synonym: "leukodystrophy caused by mutation in RARS" EXACT [MONDO:design_pattern] synonym: "leukodystrophy, hypomyelinating, 9" RELATED [MONDO:Lexical, OMIM:616140] synonym: "leukodystrophy, hypomyelinating, type 9" EXACT [MONDORULE:1, OMIM:616140] synonym: "RARS leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "RARS-related autosomal recessive hypomyelinating leukodystrophy" EXACT [DOID:0060791] xref: DOID:0060791 {source="MONDO:equivalentTo"} xref: OMIM:616140 {source="DOID:0060791", source="Orphanet:438114/e", source="MONDO:equivalentTo", source="Orphanet:438114"} xref: Orphanet:438114 {source="DOID:0060791", source="MONDO:equivalentTo"} xref: UMLS:C4015323 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019046 {source="DOID:0060791", source="DOID:0060791/inferred", source="MONDO:Redundant", source="OMIM:616140", source="Orphanet:438114"} ! leukodystrophy property_value: exactMatch DOID:0060791 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015323 property_value: exactMatch https://omim.org/entry/616140 property_value: exactMatch Orphanet:438114 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:438114"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0014507 name: Catel-Manzke syndrome def: "Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis." [Orphanet:1388] subset: gard_rare {source="GARD:0000028"} subset: ordo_malformation_syndrome {source="Orphanet:1388"} synonym: "Catel Manzke syndrome" RELATED [GARD:0000028] synonym: "Catel-Manzke syndrome" EXACT [MONDO:Lexical, OMIM:616145] synonym: "CATMANS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616145] synonym: "hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome" EXACT [Orphanet:1388] synonym: "index finger anomaly with Pierre Robin syndrome" RELATED [OMIM:616145] synonym: "index finger anomaly-Pierre Robin syndrome" EXACT [Orphanet:1388] synonym: "micrognathia digital syndrome" EXACT [OMIM:616145, Orphanet:1388] synonym: "Palatodigital syndrome Catel-Manzke type" RELATED [GARD:0000028] synonym: "Palatodigital syndrome, Catel-Manzke type" EXACT [OMIM:616145, Orphanet:1388] synonym: "Pierre Robin sequence-hyperphalangy-clinodactyly syndrome" EXACT [Orphanet:1388] synonym: "Pierre Robin syndrome with hyperphalangy and clinodactyly" RELATED [OMIM:616145] synonym: "Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome" EXACT [Orphanet:1388] xref: DOID:0081122 {source="MONDO:equivalentTo"} xref: MESH:C535347 {source="Orphanet:1388", source="MONDO:equivalentTo", source="Orphanet:1388/e"} xref: OMIM:302380 {source="MONDO:equivalentObsolete", source="Orphanet:1388", source="Orphanet:1388/nd"} xref: OMIM:616145 {source="Orphanet:1388", source="MONDO:equivalentTo", source="Orphanet:1388/e"} xref: Orphanet:1388 {source="MONDO:equivalentTo", source="OMIM:616145"} xref: SCTID:722383001 {source="MONDO:equivalentTo"} xref: UMLS:C1844887 {source="Orphanet:1388", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1388/e"} is_a: MONDO:0015159 {source="Orphanet:1388"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0800094 {source="PMID:31633310"} ! dysostosis with brachydactyly with extraskeletal manifestations property_value: exactMatch DOID:0081122 property_value: exactMatch http://identifiers.org/mesh/C535347 property_value: exactMatch http://identifiers.org/snomedct/722383001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844887 property_value: exactMatch https://omim.org/entry/616145 property_value: exactMatch Orphanet:1388 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1388"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/28/catel-manzke-syndrome xsd:anyURI {source="GARD:0000028"} [Term] id: MONDO:0014510 name: fatty acyl-CoA reductase 1 deficiency subset: ordo_disease {source="Orphanet:438178"} synonym: "FAR1 deficiency" EXACT [https://www.clinicalgenome.org/affiliation/40049/] synonym: "fatty acyl-CoA reductase 1 deficiency" EXACT [https://www.clinicalgenome.org/affiliation/40049/] synonym: "fatty acyl-CoA reductase 1 disorder" EXACT [Orphanet:438178] synonym: "fatty acyl-CoA reductase 1 disorder or fatty acyl-CoA reductase 1 deficiency" EXACT [https://orcid.org/0000-0002-6733-369X] synonym: "peroxisomal fatty acyl-CoA reductase 1 disorder" RELATED [MONDO:Lexical, OMIM:616154] synonym: "PFCRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616154] synonym: "rhizomelic chondrodysplasia punctata type 4" EXACT [https://www.clinicalgenome.org/affiliation/40049/, PMID:25439727, PMID:26220973] synonym: "severe intellectual disability-epilepsy-cataract syndrome due to FAR1 deficiency" EXACT [https://github.com/monarch-initiative/mondo/issues/811, Orphanet:438178] synonym: "severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency" EXACT [] synonym: "severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder" EXACT [Orphanet:438178] xref: DOID:0081243 {source="MONDO:equivalentTo"} xref: OMIM:616154 {source="Orphanet:438178/e", source="MONDO:equivalentTo", source="Orphanet:438178"} xref: Orphanet:438178 {source="MONDO:equivalentTo"} xref: UMLS:C4015344 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0003966 ! eye disease is_a: MONDO:0019701 {source="PMID:31633310"} ! chondrodysplasia punctata is_a: MONDO:0100275 {source="Orphanet:438178", source="https://www.clinicalgenome.org/affiliation/40049/"} ! fatty acyl-CoA reductase defects property_value: exactMatch DOID:0081243 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015344 property_value: exactMatch https://omim.org/entry/616154 property_value: exactMatch Orphanet:438178 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:438178"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0014511 name: Charcot-Marie-Tooth disease axonal type 2S def: "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the IGHMBP2 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:443073"} synonym: "autosomal recessive axonal Charcot-Marie-Tooth type 2S" EXACT [DOID:0110171] synonym: "Charcot-Marie-Tooth disease caused by mutation in IGHMBP2" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease type 2S" EXACT [DOID:0110171] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2S" RELATED [OMIM:616155] synonym: "Charcot-Marie-Tooth disease, axonal, type 2S" RELATED [MONDO:Lexical, OMIM:616155] synonym: "Charcot-Marie-Tooth neuropathy type 2S" EXACT [DOID:0110171] synonym: "Charcot-Marie-Tooth neuropathy, type 2S" RELATED [OMIM:616155] synonym: "CMT2S" EXACT ABBREVIATION [DOID:0110171, MONDO:Lexical, OMIM:616155, Orphanet:443073] synonym: "IGHMBP2 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110171 {source="MONDO:equivalentTo"} xref: OMIM:616155 {source="Orphanet:443073/e", source="MONDO:equivalentTo", source="DOID:0110171", source="Orphanet:443073"} xref: Orphanet:443073 {source="MONDO:equivalentTo", source="DOID:0110171"} xref: UMLS:C4015349 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018993 {source="DOID:0110171"} ! Charcot-Marie-Tooth disease type 2 property_value: exactMatch DOID:0110171 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015349 property_value: exactMatch https://omim.org/entry/616155 property_value: exactMatch Orphanet:443073 [Term] id: MONDO:0014512 name: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation def: "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy." [Orphanet:438216] subset: ordo_clinical_subtype {source="Orphanet:438216"} synonym: "autosomal dominant intellectual disability 31" EXACT [DOID:0070061] synonym: "autosomal dominant mental retardation 31" EXACT DEPRECATED [DOID:0070061] synonym: "autosomal dominant non-syndromic intellectual disability 31" RELATED [DOID:0070061] synonym: "intellectual disability, autosomal dominant 31" RELATED [MONDO:Lexical, OMIM:616158] synonym: "intellectual disability, autosomal dominant type 31" EXACT [MONDORULE:2, OMIM:616158] synonym: "mental retardation, autosomal dominant 31" RELATED DEPRECATED [MONDO:Lexical, OMIM:616158] synonym: "mental retardation, autosomal dominant type 31" EXACT DEPRECATED [MONDORULE:2, OMIM:616158] synonym: "MRD31" EXACT ABBREVIATION [DOID:0070061, MONDO:Lexical, OMIM:616158] synonym: "neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties" EXACT [OMIM:616158, OMIM:genemap2] synonym: "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation" EXACT [] xref: DOID:0070061 {source="MONDO:equivalentTo"} xref: OMIM:616158 {source="Orphanet:438216", source="MONDO:equivalentTo", source="Orphanet:438216/e", source="DOID:0070061"} xref: Orphanet:438216 {source="MONDO:equivalentTo"} xref: UMLS:C4015357 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:CN237609 {source="MONDO:equivalentTo"} is_a: MONDO:0018580 {source="Orphanet:438216"} ! PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome is_a: MONDO:0100172 ! intellectual disability, autosomal dominant property_value: exactMatch DOID:0070061 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015357 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237609 property_value: exactMatch https://omim.org/entry/616158 property_value: exactMatch Orphanet:438216 property_value: excluded_subClassOf MONDO:0015802 {source="DOID:0070061"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0014515 name: macular dystrophy with central cone involvement synonym: "CCMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616170] synonym: "macular dystrophy with central cone involvement" EXACT [MONDO:Lexical, OMIM:616170] xref: OMIM:616170 {source="MONDO:equivalentTo"} xref: UMLS:C4015371 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0001365 ! age-related macular degeneration property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015371 property_value: exactMatch https://omim.org/entry/616170 [Term] id: MONDO:0014518 name: platelet-type bleeding disorder 19 def: "Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:438207"} synonym: "BDPLT19" EXACT ABBREVIATION [DOID:0111048, MONDO:Lexical, OMIM:616176] synonym: "bleeding disorder, platelet-type, 19" RELATED [MONDO:Lexical, OMIM:616176] synonym: "isolated hereditary giant platelet disorder caused by mutation in PRKACG" EXACT [MONDO:design_pattern] synonym: "PRKACG isolated hereditary giant platelet disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "severe autosomal recessive macrothrombocytopenia" EXACT [DOID:0111048] xref: DOID:0111048 {source="MONDO:equivalentTo"} xref: OMIM:616176 {source="Orphanet:438207", source="MONDO:equivalentTo", source="Orphanet:438207/e", source="DOID:0111048"} xref: Orphanet:438207 {source="MONDO:equivalentTo", source="DOID:0111048"} xref: UMLS:C4015405 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000009 {source="DC-OMIM:616176", source="MONDO:Redundant", source="OMIM:616176"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0016361 {source="MONDO:Redundant", source="Orphanet:438207"} ! isolated hereditary giant platelet disorder property_value: exactMatch DOID:0111048 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015405 property_value: exactMatch https://omim.org/entry/616176 property_value: exactMatch Orphanet:438207 [Term] id: MONDO:0014526 name: polyglucosan body myopathy type 2 def: "Any polyglucosan body myopathy in which the cause of the disease is a mutation in the GYG1 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:456369"} synonym: "GYG1 polyglucosan body myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "PGBM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616199] synonym: "polyglucosan body myopathy 2" RELATED [MONDO:Lexical, OMIM:616199] synonym: "polyglucosan body myopathy caused by mutation in GYG1" EXACT [MONDO:design_pattern] synonym: "polyglucosan body myopathy type 2" EXACT [MONDORULE:1, OMIM:616199] xref: OMIM:616199 {source="Orphanet:456369", source="MONDO:equivalentTo", source="Orphanet:456369/e"} xref: Orphanet:456369 {source="MONDO:equivalentTo"} xref: UMLS:C4015452 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000192 {source="DC-OMIM:616199", source="MONDO:Redundant", source="OMIM:616199"} ! polyglucosan body myopathy is_a: MONDO:0100314 {source="https://clinicalgenome.org/affiliation/40097/"} ! GYG1-related disorder of glycogen metabolism property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015452 property_value: exactMatch https://omim.org/entry/616199 property_value: exactMatch Orphanet:456369 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6130 xsd:string [Term] id: MONDO:0014527 name: progeroid features-hepatocellular carcinoma predisposition syndrome subset: ordo_disease {source="Orphanet:435953"} synonym: "RJALS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616200] synonym: "RUIJS-Aalfs syndrome" RELATED [MONDO:Lexical, OMIM:616200] synonym: "Ruijs-Aalfs syndrome" EXACT [Orphanet:435953] xref: DOID:0111264 {source="MONDO:equivalentTo"} xref: OMIM:616200 {source="Orphanet:435953", source="MONDO:equivalentTo", source="Orphanet:435953/e"} xref: Orphanet:435953 {source="MONDO:equivalentTo"} xref: UMLS:C4015461 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015356 {source="Orphanet:435953"} ! hereditary neoplastic syndrome is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:435953", source="Orphanet:435953/inferred"} ! disorder of development or morphogenesis property_value: exactMatch DOID:0111264 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015461 property_value: exactMatch https://omim.org/entry/616200 property_value: exactMatch Orphanet:435953 property_value: excluded_subClassOf MONDO:0015333 {source="Orphanet:435953"} [Term] id: MONDO:0014528 name: chronic atrial and intestinal dysrhythmia def: "A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has material basis in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO)." [DOID:0060339, PMID:25282101] subset: ordo_disease {source="Orphanet:435988"} synonym: "caid" RELATED [MONDO:Lexical, OMIM:616201] synonym: "caid syndrome" EXACT [DOID:0060339, Orphanet:435988, PMID:25282101] synonym: "chronic atrial and intestinal dysrhythmia" EXACT [MONDO:Lexical, OMIM:616201] synonym: "chronic atrial and intestinal dysrhythmia syndrome" RELATED [Orphanet:435988] synonym: "chronic atrial dysrhythmia-intestinal motility disorder" EXACT [Orphanet:435988] synonym: "chronic atrial intestinal dysrhythmia syndrome" RELATED [GARD:0012281] synonym: "Cohesinopathy affecting heart and gut rhythm" RELATED [GARD:0012281] xref: DOID:0060339 {source="MONDO:equivalentTo"} xref: OMIM:616201 {source="Orphanet:435988", source="MONDO:equivalentTo", source="Orphanet:435988/e", source="DOID:0060339"} xref: Orphanet:435988 {source="MONDO:equivalentTo"} xref: SCTID:720507006 {source="MONDO:equivalentTo"} xref: UMLS:C4015474 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0009431 {source="Orphanet:435988"} ! intestinal disease is_a: MONDO:0002254 {source="DOID:0060339"} ! syndromic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015616"} ! rare property_value: exactMatch DOID:0060339 property_value: exactMatch http://identifiers.org/snomedct/720507006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015474 property_value: exactMatch https://omim.org/entry/616201 property_value: exactMatch Orphanet:435988 [Term] id: MONDO:0014530 name: autosomal recessive spinocerebellar ataxia 18 def: "Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected." [Orphanet:363432] subset: ordo_clinical_subtype {source="Orphanet:363432"} synonym: "autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRID2" EXACT [] synonym: "autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRID2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency" RELATED [Orphanet:363432] synonym: "autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency" EXACT [Orphanet:363432] synonym: "autosomal recessive spinocerebellar ataxia type 18" EXACT [DOID:0080042, MONDORULE:2] synonym: "GRID2 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "GRID2 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SCAR18" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616204, Orphanet:363432] synonym: "spinocerebellar ataxia, autosomal recessive 18" RELATED [MONDO:Lexical, OMIM:616204] synonym: "spinocerebellar ataxia, autosomal recessive type 18" EXACT [MONDORULE:2, OMIM:616204] xref: DOID:0080042 {source="MONDO:equivalentTo"} xref: OMIM:616204 {source="DOID:0080042", source="Orphanet:363432", source="MONDO:equivalentTo", source="Orphanet:363432/e"} xref: Orphanet:363432 {source="OMIM:616204", source="MONDO:equivalentTo"} xref: UMLS:C4015505 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018189 {source="MONDO:Redundant", source="Orphanet:363432"} ! autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome property_value: exactMatch DOID:0080042 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015505 property_value: exactMatch https://omim.org/entry/616204 property_value: exactMatch Orphanet:363432 [Term] id: MONDO:0014532 name: autosomal dominant mitochondrial myopathy with exercise intolerance subset: ordo_disease {source="Orphanet:457050"} synonym: "IMMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616209] synonym: "myopathy, isolated mitochondrial, autosomal dominant" RELATED [MONDO:Lexical, OMIM:616209] xref: DOID:0081357 {source="MONDO:equivalentTo"} xref: OMIM:616209 {source="MONDO:equivalentTo", source="Orphanet:457050", source="Orphanet:457050/e"} xref: Orphanet:457050 {source="MONDO:equivalentTo"} xref: UMLS:C4015513 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0009637 ! inborn mitochondrial myopathy is_a: MONDO:0016387 {source="Orphanet:457050"} ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0020123 {source="Orphanet:457050"} ! metabolic myopathy property_value: exactMatch DOID:0081357 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015513 property_value: exactMatch https://omim.org/entry/616209 property_value: exactMatch Orphanet:457050 [Term] id: MONDO:0014536 name: thrombocytopenia 5 def: "Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene." [MONDO:patterns/disease_series_by_gene] synonym: "ETV6 thrombocytopenia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "THC5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616216] synonym: "thrombocytopenia 5" EXACT [MONDO:Lexical, OMIM:616216] synonym: "thrombocytopenia 5 with increased susceptibility to malignancy" RELATED [OMIM:616216] synonym: "thrombocytopenia caused by mutation in ETV6" EXACT [MONDO:design_pattern] synonym: "thrombocytopenia type 5" EXACT [MONDORULE:1, OMIM:616216] synonym: "thrombocytopenia, autosomal dominant, 5" RELATED [OMIM:616216] xref: OMIM:616216 {source="MONDO:equivalentTo"} xref: UMLS:C4015537 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0100241 {source="DC-OMIM:616216", source="MONDO:Redundant", source="MONDO:indirect"} ! inherited thrombocytopenia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015537 property_value: exactMatch https://omim.org/entry/616216 [Term] id: MONDO:0014541 name: motor developmental delay due to 14q32.2 paternally expressed gene defect def: "A cause of obesity that results from inheritance of two copies of chromosome 14 from the mother, and no copy of chromosome 14 from the father." [NCIT:C120409] subset: ordo_malformation_syndrome {source="Orphanet:254516"} synonym: "maternal uniparental disomy chromosome 14 syndrome" EXACT [NCIT:C120409] synonym: "mUPD14 syndrome" EXACT [NCIT:C120409] synonym: "TEMPLE syndrome" RELATED [OMIM:616222] synonym: "uniparental disomy, maternal, chromosome 14" RELATED [OMIM:616222] xref: DOID:0111713 {source="MONDO:equivalentTo"} xref: NCIT:C120409 {source="MONDO:equivalentTo"} xref: OMIM:616222 {source="Orphanet:254516/e", source="MONDO:equivalentTo", source="Orphanet:254516"} xref: Orphanet:254516 {source="MONDO:equivalentTo", source="OMIM:616222"} xref: UMLS:C4015558 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C120409"} is_a: MONDO:0016565 {source="Orphanet:254516"} ! syndromic genetic obesity property_value: exactMatch DOID:0111713 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015558 property_value: exactMatch https://omim.org/entry/616222 property_value: exactMatch NCIT:C120409 property_value: exactMatch Orphanet:254516 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:254516"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0014546 name: myopathy due to calsequestrin and SERCA1 protein overload def: "Myopathy due to calsequestrin and SERCA1 protein overload is characterized by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms." [Orphanet:88635] subset: ordo_disease {source="Orphanet:88635"} synonym: "myopathy, vacuolar, with CASQ1 aggregates" RELATED [MONDO:Lexical, OMIM:616231] synonym: "VMCQA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616231] xref: OMIM:616231 {source="Orphanet:88635", source="MONDO:equivalentTo", source="Orphanet:88635/e"} xref: Orphanet:88635 {source="MONDO:equivalentTo", source="OMIM:616231"} xref: SCTID:724095006 {source="MONDO:equivalentTo"} xref: UMLS:C4015624 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4510368 {source="MONDO:equivalentTo"} is_a: MONDO:0016199 {source="Orphanet:88635"} ! qualitative or quantitative defects of protein SERCA1 is_a: MONDO:0020120 {source="Orphanet:88635", source="Orphanet:88635/inferred"} ! skeletal muscle disorder property_value: exactMatch http://identifiers.org/snomedct/724095006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015624 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510368 property_value: exactMatch https://omim.org/entry/616231 property_value: exactMatch Orphanet:88635 [Term] id: MONDO:0014548 name: long QT syndrome 14 def: "Any long QT syndrome in which the cause of the disease is a mutation in the CALM1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "CALM1 long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "long QT syndrome 14" EXACT [MONDO:Lexical, OMIM:616247] synonym: "long QT syndrome caused by mutation in CALM1" EXACT [MONDO:design_pattern] synonym: "long QT syndrome type 14" EXACT [DOID:0110655, MONDORULE:2, OMIM:616247] synonym: "LQT14" EXACT ABBREVIATION [DOID:0110655, MONDO:Lexical, OMIM:616247] xref: DOID:0110655 {source="MONDO:equivalentTo"} xref: NCIT:C177534 {source="MONDO:equivalentTo"} xref: OMIM:616247 {source="DOID:0110655", source="MONDO:equivalentTo"} xref: Orphanet:101016 {source="OMIM:616247", source="MONDO:directSiblingOf"} xref: UMLS:C4015671 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019171 {source="OMIM:616247", source="Orphanet:101016-prototype"} ! familial long QT syndrome property_value: exactMatch DOID:0110655 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015671 property_value: exactMatch https://omim.org/entry/616247 property_value: exactMatch NCIT:C177534 [Term] id: MONDO:0014550 name: long QT syndrome 15 def: "Any long QT syndrome in which the cause of the disease is a mutation in the CALM2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "CALM2 long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "long QT syndrome 15" EXACT [MONDO:Lexical, OMIM:616249] synonym: "long QT syndrome caused by mutation in CALM2" EXACT [MONDO:design_pattern] synonym: "long QT syndrome type 15" EXACT [DOID:0110656, MONDORULE:2, OMIM:616249] synonym: "LQT15" EXACT ABBREVIATION [DOID:0110656, MONDO:Lexical, OMIM:616249] xref: DOID:0110656 {source="MONDO:equivalentTo"} xref: OMIM:616249 {source="DOID:0110656", source="MONDO:equivalentTo"} xref: Orphanet:101016 {source="OMIM:616249", source="MONDO:directSiblingOf"} xref: UMLS:C4015695 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019171 {source="OMIM:616249", source="Orphanet:101016-prototype"} ! familial long QT syndrome property_value: exactMatch DOID:0110656 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015695 property_value: exactMatch https://omim.org/entry/616249 [Term] id: MONDO:0014553 name: Tenorio syndrome synonym: "overgrowth, macrocephaly, and intellectual disability syndrome" RELATED [OMIM:616260] synonym: "TENORIO syndrome" RELATED [OMIM:616260] synonym: "Tenorio syndrome" EXACT [MONDO:Lexical, OMIM:616260] synonym: "TNORS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616260] xref: OMIM:616260 {source="MONDO:equivalentTo"} xref: UMLS:C4015710 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015710 property_value: exactMatch https://omim.org/entry/616260 [Term] id: MONDO:0014555 name: peeling skin syndrome type A def: "Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS, a type of ichthyosis, characterized by generalized white scaling and superficial painless peeling of the skin." [Orphanet:263548] subset: ordo_clinical_subtype {source="Orphanet:263548"} synonym: "generalised deciduous skin type A" EXACT OMO:0003005 [] synonym: "generalised peeling skin syndrome type A" EXACT OMO:0003005 [] synonym: "generalized deciduous skin type A" EXACT [Orphanet:263548] synonym: "generalized peeling skin syndrome type A" EXACT [Orphanet:263548] synonym: "non-inflammatory generalised peeling skin syndrome type A." EXACT OMO:0003005 [] synonym: "non-inflammatory generalized peeling skin syndrome type A." EXACT [Orphanet:263548] synonym: "non-inflammatory peeling skin syndrome type A" EXACT [Orphanet:263548] synonym: "peeling skin syndrome 3" RELATED [MONDO:Lexical, OMIM:616265] synonym: "peeling skin syndrome type 3" EXACT [MONDORULE:1, OMIM:616265] synonym: "PSS type A" EXACT [Orphanet:263548] synonym: "PSS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616265] xref: OMIM:616265 {source="Orphanet:263548/e", source="MONDO:equivalentTo", source="Orphanet:263548"} xref: Orphanet:263548 {source="MONDO:equivalentTo", source="OMIM:616265"} xref: UMLS:C4015729 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0010033 {source="Orphanet:263548"} ! generalized peeling skin syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015729 property_value: exactMatch https://omim.org/entry/616265 property_value: exactMatch Orphanet:263548 [Term] id: MONDO:0014558 name: autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome def: "A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described." [Orphanet:457193] subset: ordo_malformation_syndrome {source="Orphanet:457193"} synonym: "Arboleda-Tham syndrome" EXACT [OMIM:616268, OMIM:genemap2] synonym: "autosomal dominant intellectual disability 32" EXACT [DOID:0070062] synonym: "autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome" EXACT [] synonym: "autosomal dominant mental retardation 32" EXACT DEPRECATED [DOID:0070062] synonym: "autosomal dominant non-syndromic intellectual disability 32" RELATED [DOID:0070062] synonym: "intellectual disability, autosomal dominant 32" RELATED [MONDO:Lexical, OMIM:616268] synonym: "intellectual disability, autosomal dominant type 32" EXACT [MONDORULE:2, OMIM:616268] synonym: "KAT6A Syndrome" EXACT [http://www.kat6a.org/, https://rarediseases.org/rare-diseases/kat6a-syndrome/, PMID:30245513] synonym: "mental retardation, autosomal dominant 32" RELATED DEPRECATED [MONDO:Lexical, OMIM:616268] synonym: "mental retardation, autosomal dominant type 32" EXACT DEPRECATED [MONDORULE:2, OMIM:616268] synonym: "MRD32" EXACT ABBREVIATION [DOID:0070062, MONDO:Lexical, OMIM:616268] xref: DOID:0070062 {source="MONDO:equivalentTo"} xref: OMIM:616268 {source="MONDO:equivalentTo", source="Orphanet:457193", source="Orphanet:457193/e", source="DOID:0070062"} xref: Orphanet:457193 {source="MONDO:equivalentTo"} is_a: EFO:0003777 {source="MONDO:0015506-obsoleted"} ! heart disease is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:457193", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:457193"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015338 {source="Orphanet:457193"} ! syndromic craniosynostosis is_a: MONDO:0100172 ! intellectual disability, autosomal dominant property_value: exactMatch DOID:0070062 property_value: exactMatch https://omim.org/entry/616268 property_value: exactMatch Orphanet:457193 property_value: excluded_subClassOf MONDO:0015802 {source="DOID:0070062"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0014561 name: 3-methylglutaconic aciduria, type VIIB comment: Present because it is in the OMIM series. {source="OMIM:616271"} subset: ordo_disease {source="Orphanet:445038"} synonym: "3-methylglutaconic aciduria type 7" EXACT [DOID:0110003] synonym: "3-methylglutaconic aciduria type VII" EXACT [DOID:0110003] synonym: "3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia" EXACT [DOID:0110003] synonym: "3-METHYLGLUTACONIC aciduria with cataracts, neurologic involvement, and neutropenia" RELATED [MONDO:Lexical, OMIM:616271] synonym: "3-Methylglutaconic aciduria, type 7" RELATED [OMIM:616271] synonym: "3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia" EXACT [OMIM:616271, OMIM:genemap2] synonym: "3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome" EXACT [Orphanet:445038] synonym: "CLPB 3-methylglutaconic aciduria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "MEGCANN" EXACT ABBREVIATION [DOID:0110003, MONDO:Lexical, OMIM:616271] synonym: "MGA7" EXACT ABBREVIATION [DOID:0110003, Orphanet:445038] synonym: "MGCA7" EXACT ABBREVIATION [DOID:0110003] xref: DOID:0081134 {source="MONDO:equivalentTo"} xref: DOID:0110003 {source="MONDO:equivalentTo"} xref: EFO:0009014 {source="MONDO:equivalentTo"} xref: OMIM:616271 {source="Orphanet:445038", source="MONDO:equivalentTo", source="Orphanet:445038/e", source="DOID:0110003"} xref: Orphanet:445038 {source="MONDO:equivalentTo", source="DOID:0110003"} xref: SCTID:764860006 {source="MONDO:equivalentTo"} xref: UMLS:C4225393 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0017359 {source="DC-OMIM:616271", source="DOID:0110003", source="EFO:0009014", source="MONDO:Redundant", source="OMIM:616271", source="Orphanet:445038"} ! 3-methylglutaconic aciduria relationship: disease_has_feature EFO:0000589 ! metabolic disease property_value: exactMatch DOID:0081134 property_value: exactMatch DOID:0110003 property_value: exactMatch http://identifiers.org/snomedct/764860006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225393 property_value: exactMatch https://omim.org/entry/616271 property_value: exactMatch Orphanet:445038 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0014562 name: neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome subset: ordo_disease {source="Orphanet:457185"} synonym: "coenzyme Q10 deficiency, primary, 7" RELATED [MONDO:Lexical, OMIM:616276] synonym: "coenzyme Q10 deficiency, primary, type 7" EXACT [MONDORULE:1, OMIM:616276] synonym: "COQ10D7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616276] synonym: "COQ4-related neonatal encephalomyopathy" EXACT [Orphanet:457185] synonym: "primary coenzyme Q10 deficiency 7" RELATED [DOID:0070244] xref: DOID:0070244 {source="MONDO:equivalentTo"} xref: OMIM:616276 {source="Orphanet:457185/e", source="MONDO:equivalentTo", source="Orphanet:457185"} xref: Orphanet:457185 {source="MONDO:equivalentTo"} xref: UMLS:C4225392 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018151 {source="DC-OMIM:616276", source="OMIM:616276", source="Orphanet:457185"} ! coenzyme Q10 deficiency property_value: exactMatch DOID:0070244 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225392 property_value: exactMatch https://omim.org/entry/616276 property_value: exactMatch Orphanet:457185 [Term] id: MONDO:0014563 name: mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency synonym: "ECHS1D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616277] synonym: "mitochondrial short-chain ENOYL-CoA hydratase 1 deficiency" RELATED [OMIM:616277] synonym: "mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency" EXACT [MONDO:Lexical, OMIM:616277] synonym: "short-chain enoyl-CoA hydratase deficiency" RELATED [GARD:0013019] xref: OMIM:616277 {source="MONDO:equivalentTo"} xref: UMLS:C4225391 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0016815 {source="Orphanet:255241/btnt"} ! Leigh syndrome with leukodystrophy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225391 property_value: exactMatch https://omim.org/entry/616277 [Term] id: MONDO:0014564 name: congenital bile acid synthesis defect 5 def: "Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene." [MONDO:patterns/disease_series_by_gene] synonym: "ABCD3 congenital bile acid synthesis defect" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "bile acid synthesis defect, congenital, 5" RELATED [MONDO:Lexical, OMIM:616278] synonym: "bile acid synthesis defect, congenital, type 5" EXACT [MONDORULE:1, OMIM:616278] synonym: "CBAS5" EXACT ABBREVIATION [DOID:0111066, MONDO:Lexical, OMIM:616278] synonym: "congenital bile acid synthesis defect 5" EXACT [] synonym: "congenital bile acid synthesis defect caused by mutation in ABCD3" EXACT [MONDO:design_pattern] synonym: "congenital bile acid synthesis defect type 5" EXACT [DOID:0111066, MONDORULE:1] xref: DOID:0111066 {source="MONDO:equivalentTo"} xref: OMIM:616278 {source="MONDO:equivalentTo", source="DOID:0111066"} is_a: EFO:0009039 {source="DC-OMIM:616278", source="DOID:0111066", source="MONDO:Redundant", source="OMIM:616278"} ! Congenital bile acid synthesis defect is_a: MONDO:0100372 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of peroxisomal transporter property_value: exactMatch DOID:0111066 property_value: exactMatch https://omim.org/entry/616278 [Term] id: MONDO:0014566 name: Charcot-Marie-Tooth disease axonal type 2U def: "Autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) is a subtype of autosonal dominant Charcot-Marie-Tooth disease type 2 characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated." [Orphanet:397735] subset: ordo_disease {source="Orphanet:397735"} synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2U" EXACT [DOID:0110173] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation" EXACT [Orphanet:397735] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2U" EXACT [DOID:0110173] synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in MARS" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2U" RELATED [OMIM:616280] synonym: "Charcot-Marie-Tooth disease, axonal, type 2U" RELATED [MONDO:Lexical, OMIM:616280] synonym: "Charcot-Marie-Tooth neuropathy type 2U" EXACT [DOID:0110173] synonym: "Charcot-Marie-Tooth neuropathy, type 2U" RELATED [OMIM:616280] synonym: "CMT2U" EXACT ABBREVIATION [DOID:0110173, MONDO:Lexical, OMIM:616280, Orphanet:397735] synonym: "MARS Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110173 {source="MONDO:equivalentTo"} xref: OMIM:616280 {source="Orphanet:397735/e", source="MONDO:equivalentTo", source="DOID:0110173", source="Orphanet:397735"} xref: Orphanet:397735 {source="MONDO:equivalentTo", source="OMIM:616280", source="DOID:0110173"} xref: SCTID:765046002 {source="MONDO:equivalentTo"} xref: UMLS:C4084821 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018993 {source="DOID:0110173", source="MONDO:Redundant", source="Orphanet:397735"} ! Charcot-Marie-Tooth disease type 2 property_value: exactMatch DOID:0110173 property_value: exactMatch http://identifiers.org/snomedct/765046002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4084821 property_value: exactMatch https://omim.org/entry/616280 property_value: exactMatch Orphanet:397735 [Term] id: MONDO:0014567 name: glutamate pyruvate transaminase 2 deficiency subset: ordo_disease {source="Orphanet:477673"} synonym: "glutamate pyruvate transaminase 2 deficiency" EXACT [] synonym: "GPT2 deficiency" EXACT [https://orcid.org/0000-0002-5655-9589, PMID:31471722] synonym: "mental retardation, autosomal recessive 49" EXACT DEPRECATED [MONDO:Lexical, OMIM:616281] synonym: "mental retardation, autosomal recessive type 49" EXACT DEPRECATED [MONDORULE:2, OMIM:616281] synonym: "MRT49" EXACT DEPRECATED [OMIM:616281] synonym: "neurodevelopmental disorder with microcephaly and spastic paraplegia" EXACT [OMIM:616281, OMIM:genemap2] synonym: "postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome" EXACT [Orphanet:477673] xref: OMIM:616281 {source="Orphanet:477673", source="MONDO:equivalentTo"} xref: Orphanet:477673 {source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:477673"} ! autosomal recessive complex spastic paraplegia relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: exactMatch https://omim.org/entry/616281 property_value: exactMatch Orphanet:477673 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:477673"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0014568 name: hereditary spastic paraplegia 73 def: "Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies." [Orphanet:444099] subset: ordo_disease {source="Orphanet:444099"} synonym: "autosomal dominant pure spastic paraplegia caused by mutation in CPT1C" EXACT [MONDO:design_pattern] synonym: "autosomal dominant spastic paraplegia 73" EXACT [DOID:0110818] synonym: "autosomal dominant spastic paraplegia type 73" EXACT [DOID:0110818] synonym: "CPT1C autosomal dominant pure spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary spastic paraplegia type 73" EXACT [DOID:0110818, MONDORULE:2] synonym: "spastic paraplegia 73, autosomal dominant" RELATED [MONDO:Lexical, OMIM:616282] synonym: "SPG73" EXACT ABBREVIATION [DOID:0110818, MONDO:Lexical, OMIM:616282, Orphanet:444099] xref: DOID:0110818 {source="MONDO:equivalentTo"} xref: OMIM:616282 {source="Orphanet:444099/e", source="MONDO:equivalentTo", source="DOID:0110818", source="Orphanet:444099"} xref: Orphanet:444099 {source="MONDO:equivalentTo", source="DOID:0110818"} xref: UMLS:C4225387 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015088 {source="MONDO:Redundant", source="Orphanet:444099"} ! autosomal dominant pure spastic paraplegia property_value: exactMatch DOID:0110818 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225387 property_value: exactMatch https://omim.org/entry/616282 property_value: exactMatch Orphanet:444099 [Term] id: MONDO:0014572 name: Lichtenstein-Knorr syndrome subset: ordo_disease {source="Orphanet:448251"} synonym: "autosomal recessive spinocerebellar ataxia 19" RELATED [DOID:0080065] synonym: "autosomal recessive spinocerebellar ataxia type 19" EXACT [DOID:0080065, MONDORULE:2] synonym: "Lichtenstein-Knorr syndrome" EXACT [MONDO:Lexical, OMIM:616291, Orphanet:448251] synonym: "LIKNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616291] synonym: "progressive autosomal recessive ataxia-deafness syndrome" RELATED [Orphanet:448251] synonym: "progressive autosomal recessive ataxia-sensorineural hearing loss syndrome" EXACT [Orphanet:448251] synonym: "SCAR19" EXACT ABBREVIATION [Orphanet:448251] synonym: "spinocerebellar ataxia, autosomal recessive 19" RELATED [OMIM:616291] xref: DOID:0080065 {source="MONDO:equivalentTo"} xref: OMIM:616291 {source="DOID:0080065", source="MONDO:equivalentTo", source="Orphanet:448251", source="Orphanet:448251/e"} xref: Orphanet:448251 {source="MONDO:equivalentTo"} xref: UMLS:C4225383 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015244 {source="DOID:0080065"} ! autosomal recessive cerebellar ataxia property_value: exactMatch DOID:0080065 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225383 property_value: exactMatch https://omim.org/entry/616291 property_value: exactMatch Orphanet:448251 [Term] id: MONDO:0014576 name: lipoyl transferase 1 deficiency subset: ordo_disease {source="Orphanet:401862"} synonym: "lipoyltransferase 1 deficiency" RELATED [MONDO:Lexical, OMIM:616299] synonym: "LIPT1D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616299] xref: OMIM:616299 {source="Orphanet:401862", source="MONDO:equivalentTo", source="Orphanet:401862/e"} xref: Orphanet:401862 {source="MONDO:equivalentTo", source="OMIM:616299"} xref: UMLS:C4225379 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018424 {source="Orphanet:401862"} ! inherited lipoic acid biosynthesis defect property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225379 property_value: exactMatch https://omim.org/entry/616299 property_value: exactMatch Orphanet:401862 [Term] id: MONDO:0014593 name: developmental and epileptic encephalopathy, 29 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AARS gene." [MONDO:patterns/disease_series_by_gene] synonym: "AARS early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "DEE29" EXACT ABBREVIATION [OMIM:616339] synonym: "developmental and epileptic encephalopathy 29" EXACT [OMIM:616339, OMIM:genemap2] synonym: "early infantile epileptic encephalopathy caused by mutation in AARS" EXACT [MONDO:design_pattern] synonym: "EIEE29" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616339] synonym: "epileptic encephalopathy, early infantile, 29" EXACT [MONDO:Lexical, OMIM:616339] synonym: "epileptic encephalopathy, early infantile, type 29" EXACT [MONDORULE:2, OMIM:616339] xref: DOID:0080451 {source="MONDO:equivalentTo"} xref: OMIM:616339 {source="MONDO:equivalentTo"} xref: UMLS:C4225361 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy is_a: MONDO:0100455 ! neonatal-onset developmental and epileptic encephalopathy property_value: exactMatch DOID:0080451 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225361 property_value: exactMatch https://omim.org/entry/616339 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0014601 name: autosomal recessive spinocerebellar ataxia 20 def: "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_malformation_syndrome {source="Orphanet:397709"} synonym: "autosomal recessive cerebellar ataxia caused by mutation in SNX14" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spinocerebellar ataxia type 20" EXACT [DOID:0080066, MONDORULE:2, Orphanet:397709] synonym: "intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome" EXACT [Orphanet:397709] synonym: "intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome" RELATED [Orphanet:397709] synonym: "SCAR20" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616354, Orphanet:397709] synonym: "SNX14 autosomal recessive cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "spinocerebellar ataxia, autosomal recessive 20" RELATED [MONDO:Lexical, OMIM:616354] synonym: "spinocerebellar ataxia, autosomal recessive type 20" EXACT [MONDORULE:2, OMIM:616354] xref: DOID:0080066 {source="MONDO:equivalentTo"} xref: OMIM:616354 {source="Orphanet:397709", source="DOID:0080066", source="MONDO:equivalentTo", source="Orphanet:397709/e"} xref: Orphanet:397709 {source="MONDO:equivalentTo", source="OMIM:616354"} xref: UMLS:C4225355 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:397709"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015244 {source="DOID:0080066", source="MONDO:Redundant"} ! autosomal recessive cerebellar ataxia is_a: MONDO:0020022 ! central nervous system malformation relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation property_value: exactMatch DOID:0080066 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225355 property_value: exactMatch https://omim.org/entry/616354 property_value: exactMatch Orphanet:397709 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:397709"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0014603 name: autosomal dominant nonsyndromic hearing loss 40 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CRYM gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant deafness 40" NARROW [DOID:0110566] synonym: "autosomal dominant nonsyndromic deafness 40" NARROW [OMIM:616357] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in CRYM" NARROW [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 40" NARROW [DOID:0110566, MONDORULE:2] synonym: "CRYM autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "deafness, autosomal dominant 40" NARROW [MONDO:Lexical, OMIM:616357, OMIM:genemap2] synonym: "deafness, autosomal dominant type 40" NARROW [MONDORULE:2, OMIM:616357] synonym: "DFNA40" NARROW ABBREVIATION [DOID:0110566, MONDO:Lexical, OMIM:616357] xref: DOID:0110566 {source="MONDO:equivalentTo"} xref: OMIM:616357 {source="DOID:0110566", source="MONDO:equivalentTo"} xref: UMLS:C4084708 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019587 {source="DC-OMIM:616357", source="DOID:0110566", source="MONDO:Redundant", source="OMIM:616357"} ! autosomal dominant nonsyndromic hearing loss property_value: exactMatch DOID:0110566 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4084708 property_value: exactMatch https://omim.org/entry/616357 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/551 xsd:anyURI [Term] id: MONDO:0014606 name: intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome def: "Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation)." [Orphanet:468678] subset: ordo_disease {source="Orphanet:468678"} synonym: "autosomal dominant intellectual disability 37" EXACT [DOID:0070067] synonym: "autosomal dominant mental retardation 37" EXACT DEPRECATED [DOID:0070067] synonym: "intellectual disability, autosomal dominant 37" RELATED [MONDO:Lexical, OMIM:616364] synonym: "intellectual disability, autosomal dominant type 37" EXACT [MONDORULE:2, OMIM:616364] synonym: "intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome" EXACT [] synonym: "mental retardation, autosomal dominant 37" RELATED DEPRECATED [MONDO:Lexical, OMIM:616364] synonym: "mental retardation, autosomal dominant type 37" EXACT DEPRECATED [MONDORULE:2, OMIM:616364] synonym: "MRD37" EXACT ABBREVIATION [DOID:0070067, MONDO:Lexical, OMIM:616364] synonym: "WHITE-Sutton syndrome" RELATED [OMIM:616364] synonym: "White-Sutton syndrome" RELATED [DOID:0070067, OMIM:616364] synonym: "WHSUS" EXACT ABBREVIATION [DOID:0070067] xref: DOID:0070067 {source="MONDO:equivalentTo"} xref: EFO:0009079 {source="MONDO:equivalentTo"} xref: OMIM:616364 {source="DOID:0070067", source="Orphanet:468678", source="MONDO:equivalentTo"} xref: Orphanet:468678 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:468678", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:468678"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0100172 ! intellectual disability, autosomal dominant property_value: exactMatch DOID:0070067 property_value: exactMatch https://omim.org/entry/616364 property_value: exactMatch Orphanet:468678 property_value: excluded_subClassOf MONDO:0015802 {source="DOID:0070067"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0014608 name: mandibulofacial dysostosis with alopecia def: "A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia." [DOID:0060365, PMID:25772936] subset: ordo_malformation_syndrome {source="Orphanet:443995"} synonym: "mandibulofacial dysostosis with alopecia" EXACT [MONDO:Lexical, OMIM:616367] synonym: "MFDA" EXACT ABBREVIATION [DOID:0060365, MONDO:Lexical, OMIM:616367, Orphanet:443995] xref: DOID:0060365 {source="MONDO:equivalentTo"} xref: OMIM:616367 {source="DOID:0060365", source="Orphanet:443995", source="MONDO:equivalentTo", source="Orphanet:443995/e"} xref: Orphanet:443995 {source="MONDO:equivalentTo"} xref: UMLS:C4225349 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0002254 {source="DOID:0060365", source="MONDO:Redundant", source="MONDO:indirect"} ! syndromic disease is_a: MONDO:0015483 {source="Orphanet:443995"} ! mandibulofacial dysostosis is_a: MONDO:0018454 {source="MONDO:0019710-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin is_a: MONDO:0018751 ! hereditary otorhinolaryngologic disease is_a: MONDO:0021034 {source="Orphanet:443995"} ! hereditary alopecia is_a: MONDO:0800085 {source="PMID:31633310"} ! dysostosis with predominant craniofacial involvement property_value: exactMatch DOID:0060365 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225349 property_value: exactMatch https://omim.org/entry/616367 property_value: exactMatch Orphanet:443995 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0014611 name: multiple mitochondrial dysfunctions syndrome 4 def: "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the ISCA2 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:457406"} synonym: "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in ISCA2" EXACT [MONDO:design_pattern] synonym: "ISCA2 fatal multiple mitochondrial dysfunctions syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "MMDS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616370] synonym: "multiple mitochondrial dysfunctions syndrome 4" EXACT [MONDO:Lexical, OMIM:616370] synonym: "multiple mitochondrial dysfunctions syndrome type 4" EXACT [DOID:0080136, MONDORULE:1, OMIM:616370] xref: DOID:0080136 {source="MONDO:equivalentTo"} xref: OMIM:616370 {source="DOID:0080136", source="MONDO:equivalentTo", source="Orphanet:457406", source="Orphanet:457406/e"} xref: Orphanet:457406 {source="MONDO:equivalentTo"} xref: UMLS:C4225348 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0004884 {source="MONDO:Entailed"} ! eye degenerative disorder is_a: MONDO:0017338 {source="MONDO:Redundant", source="OMIM:616370", source="Orphanet:457406"} ! fatal multiple mitochondrial dysfunctions syndrome is_a: MONDO:0019046 {source="Orphanet:457406"} ! leukodystrophy property_value: exactMatch DOID:0080136 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225348 property_value: exactMatch https://omim.org/entry/616370 property_value: exactMatch Orphanet:457406 [Term] id: MONDO:0014618 name: retinitis pigmentosa 71 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IFT172 gene." [MONDO:patterns/disease_series_by_gene] synonym: "IFT172 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 71" EXACT [MONDO:Lexical, OMIM:616394] synonym: "retinitis pigmentosa caused by mutation in IFT172" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 71" EXACT [DOID:0110363, MONDORULE:2, OMIM:616394] synonym: "RP71" EXACT ABBREVIATION [DOID:0110363, MONDO:Lexical, OMIM:616394] xref: DOID:0110363 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110363"} xref: OMIM:616394 {source="MONDO:equivalentTo", source="DOID:0110363"} xref: UMLS:C4225342 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019200 {source="DC-OMIM:616394", source="DOID:0110363", source="MONDO:Redundant", source="OMIM:616394"} ! retinitis pigmentosa property_value: exactMatch DOID:0110363 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225342 property_value: exactMatch https://omim.org/entry/616394 [Term] id: MONDO:0014619 name: trichothiodystrophy 3, photosensitive synonym: "trichothiodystrophy 3, photosensitive" EXACT [MONDO:Lexical, OMIM:616395] synonym: "trichothiodystrophy, complementation group A" RELATED [OMIM:616395] synonym: "TTD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616395] xref: DOID:0111871 {source="MONDO:equivalentTo"} xref: NCIT:C173099 {source="MONDO:equivalentTo"} xref: OMIM:616395 {source="MONDO:equivalentTo"} xref: UMLS:C4017171 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0002470 {source="DC-OMIM:616395", source="MONDO:Redundant"} ! photosensitive trichothiodystrophy property_value: exactMatch DOID:0111871 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4017171 property_value: exactMatch https://omim.org/entry/616395 property_value: exactMatch NCIT:C173099 [Term] id: MONDO:0014620 name: myoclonic dystonia 26 def: "Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the KCTD17 gene." [MONDO:patterns/disease_series_by_gene] synonym: "dystonia 26, myoclonic" RELATED [MONDO:Lexical, OMIM:616398] synonym: "DYT26" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616398] synonym: "KCTD17 myoclonus-dystonia syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "myoclonic dystonia type 26" EXACT [DOID:0090036, MONDORULE:2] synonym: "myoclonus-dystonia syndrome caused by mutation in KCTD17" EXACT [MONDO:design_pattern] xref: DOID:0090036 {source="MONDO:equivalentTo"} xref: OMIM:616398 {source="DOID:0090036", source="MONDO:equivalentTo"} xref: UMLS:C4225341 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000903 {source="DOID:0090036", source="MONDO:Redundant"} ! myoclonus-dystonia syndrome property_value: exactMatch DOID:0090036 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225341 property_value: exactMatch https://omim.org/entry/616398 [Term] id: MONDO:0014628 name: basal ganglia calcification, idiopathic, 6 def: "Any bilateral striopallidodentate calcinosis in which the cause of the disease is a mutation in the XPR1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "basal ganglia calcification, idiopathic, 6" EXACT [MONDO:Lexical, OMIM:616413] synonym: "basal ganglia calcification, idiopathic, type 6" EXACT [MONDORULE:1, OMIM:616413] synonym: "bilateral striopallidodentate calcinosis caused by mutation in XPR1" EXACT [MONDO:design_pattern] synonym: "IBGC6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616413] synonym: "XPR1 bilateral striopallidodentate calcinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: OMIM:616413 {source="MONDO:equivalentTo"} xref: UMLS:C4225335 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0008947 {source="MONDO:Redundant", source="OMIM:616413", source="Orphanet:1980/btnt"} ! bilateral striopallidodentate calcinosis is_a: MONDO:0700007 ! idiopathic disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225335 property_value: exactMatch https://omim.org/entry/616413 [Term] id: MONDO:0014629 name: autoimmune interstitial lung disease-arthritis syndrome def: "A respiratory disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease." [Orphanet:444092] comment: Editor note: check relationship to RA-ILD subset: ordo_disease {source="Orphanet:444092"} synonym: "AILJK" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616414] synonym: "autoimmune interstitial lung, joint, and kidney disease" RELATED [MONDO:Lexical, OMIM:616414] synonym: "copa defect" EXACT [Orphanet:444092] synonym: "copa syndrome" EXACT [Orphanet:444092] xref: DOID:0081242 {source="MONDO:equivalentTo"} xref: OMIM:616414 {source="MONDO:equivalentTo", source="Orphanet:444092", source="Orphanet:444092/e"} xref: Orphanet:444092 {source="MONDO:equivalentTo"} xref: UMLS:C4225334 {source="MONDO:equivalentTo"} is_a: EFO:0000684 {source="MONDO:Redundant", source="Orphanet:444092", source="Orphanet:444092/inferred"} ! respiratory system disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015510"} ! rare property_value: exactMatch DOID:0081242 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225334 property_value: exactMatch https://omim.org/entry/616414 property_value: exactMatch Orphanet:444092 property_value: excluded_subClassOf MONDO:0017020 {source="Orphanet:444092"} property_value: excluded_subClassOf MONDO:0019724 {source="Orphanet:444092"} [Term] id: MONDO:0014632 name: hypomyelinating leukodystrophy 10 def: "Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "HLD10" EXACT ABBREVIATION [DOID:0060788, MONDO:Lexical, OMIM:616420] synonym: "hypomyelinating leukodystrophy type 10" EXACT [DOID:0060788, MONDORULE:2] synonym: "leukodystrophy caused by mutation in PYCR2" EXACT [MONDO:design_pattern] synonym: "leukodystrophy, hypomyelinating, 10" RELATED [MONDO:Lexical, OMIM:616420] synonym: "leukodystrophy, hypomyelinating, type 10" EXACT [MONDORULE:2, OMIM:616420] synonym: "PYCR2 leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060788 {source="MONDO:equivalentTo"} xref: OMIM:616420 {source="MONDO:equivalentTo", source="DOID:0060788"} xref: UMLS:C4225332 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019046 {source="DOID:0060788", source="DOID:0060788/inferred", source="MONDO:Redundant", source="OMIM:616420"} ! leukodystrophy property_value: exactMatch DOID:0060788 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225332 property_value: exactMatch https://omim.org/entry/616420 [Term] id: MONDO:0014637 name: DOCK2 deficiency subset: gard_rare {source="GARD:0012653"} subset: ordo_disease {source="Orphanet:447737"} synonym: "IMD40" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616433] synonym: "immunodeficiency 40" RELATED [MONDO:Lexical, OMIM:616433] synonym: "immunodeficiency type 40" EXACT [MONDORULE:2, OMIM:616433] xref: DOID:0111951 {source="MONDO:equivalentTo"} xref: OMIM:616433 {source="MONDO:equivalentTo", source="Orphanet:447737", source="Orphanet:447737/e"} xref: Orphanet:447737 {source="MONDO:equivalentTo"} xref: UMLS:C4225328 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0021094 {source="OMIM:616433"} ! immunodeficiency disease property_value: exactMatch DOID:0111951 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225328 property_value: exactMatch https://omim.org/entry/616433 property_value: exactMatch Orphanet:447737 property_value: excluded_subClassOf MONDO:0018814 {source="Orphanet:447737"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12653/dock2-deficiency xsd:anyURI {source="GARD:0012653"} [Term] id: MONDO:0014639 name: familial temporal lobe epilepsy 7 def: "A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has material basis in heterozygous mutation in the RELN gene on chromosome 7q22." [DOID:0060751, PMID:26046367] synonym: "epilepsy, familial temporal lobe, 7" RELATED [MONDO:Lexical, OMIM:616436] synonym: "epilepsy, familial temporal lobe, type 7" EXACT [MONDORULE:1, OMIM:616436] synonym: "ETL7" EXACT ABBREVIATION [DOID:0060751, MONDO:Lexical, OMIM:616436] synonym: "familial temporal lobe epilepsy type 7" EXACT [DOID:0060751, MONDORULE:1] xref: DOID:0060751 {source="MONDO:equivalentTo"} xref: OMIM:616436 {source="DOID:0060751", source="MONDO:equivalentTo"} xref: UMLS:C4225327 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0000773 {source="OMIM:616436"} ! temporal lobe epilepsy property_value: exactMatch DOID:0060751 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225327 property_value: exactMatch https://omim.org/entry/616436 [Term] id: MONDO:0014641 name: frontotemporal dementia and/or amyotrophic lateral sclerosis 4 def: "An amyotrophic lateral sclerosis that has material basis in mutation in the TBK1 gene on chromosome 12q14." [DOID:0110069, PMID:25700176] synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis 4" EXACT [DOID:0110069, MONDO:Lexical, OMIM:616439] synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis type 4" EXACT [MONDORULE:1, OMIM:616439] synonym: "FTDALS4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616439] xref: DOID:0110069 {source="MONDO:equivalentTo"} xref: OMIM:616439 {source="MONDO:equivalentTo", source="DOID:0110069"} xref: UMLS:C4225325 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: EFO:0001356 {source="OMIM:616439"} ! familial amyotrophic lateral sclerosis is_a: MONDO:0017161 {source="MONDO:cjm", source="OMIM:616439", source="Orphanet:275872/btnt"} ! frontotemporal dementia with motor neuron disease is_a: MONDO:0030923 {source="OMIM:616439"} ! frontotemporal dementia and/or amyotrophic lateral sclerosis property_value: exactMatch DOID:0110069 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225325 property_value: exactMatch https://omim.org/entry/616439 [Term] id: MONDO:0014643 name: congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome subset: ordo_malformation_syndrome {source="Orphanet:464738"} synonym: "Basel-Vanagait-Smirin-Yosef syndrome" EXACT [OMIM:616449, OMIM:genemap2] synonym: "BASEL-Vanagaite-SMIRIN-YOSEF syndrome" RELATED [MONDO:Lexical, OMIM:616449] synonym: "BVSYS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616449] xref: OMIM:616449 {source="Orphanet:464738/e", source="MONDO:equivalentTo", source="Orphanet:464738"} xref: Orphanet:464738 {source="MONDO:equivalentTo"} xref: UMLS:C4225323 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015159 {source="Orphanet:464738"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225323 property_value: exactMatch https://omim.org/entry/616449 property_value: exactMatch Orphanet:464738 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:464738"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0014644 name: hereditary spastic paraplegia 74 def: "Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported." [Orphanet:468661] subset: ordo_disease {source="Orphanet:468661"} synonym: "autosomal recessive spastic paraplegia 74" EXACT [DOID:0110819] synonym: "autosomal recessive spastic paraplegia type 74" RELATED [Orphanet:468661] synonym: "hereditary spastic paraplegia caused by mutation in IBA57" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 74" EXACT [DOID:0110819, MONDORULE:2] synonym: "IBA57 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "spastic paraplegia 74, autosomal recessive" RELATED [MONDO:Lexical, OMIM:616451] synonym: "SPG74" EXACT ABBREVIATION [DOID:0110819, MONDO:Lexical, OMIM:616451, Orphanet:468661] xref: DOID:0110819 {source="MONDO:equivalentTo"} xref: OMIM:616451 {source="MONDO:equivalentTo", source="DOID:0110819", source="Orphanet:468661"} xref: Orphanet:468661 {source="MONDO:equivalentTo", source="DOID:0110819"} xref: UMLS:C4225322 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018550 {source="Orphanet:468661"} ! spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder property_value: exactMatch DOID:0110819 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225322 property_value: exactMatch https://omim.org/entry/616451 property_value: exactMatch Orphanet:468661 [Term] id: MONDO:0014645 name: BENTA disease def: "BENTA disease (B cell Expansion with N F-N:B and T cell Anergy) is a very rare congenital immune deficiency disorder. The main symptoms include spleen enlargement (splenomegalia) and frequent ear, sinus, and lung infections early in life. Some patients can present with molluscum contagiosum or chronic Epstein-Barr virus (EBV) infection. Blood exams show alterations of several immune cells with very high numbers of polyclonal B cell lymphocytos (above 2200/N2< gangliosidosis" EXACT [DOID:3321] xref: DOID:3321 {source="MONDO:equivalentTo"} xref: ICD10CM:E75.0 {source="DOID:3321", source="Orphanet:309152", source="MONDO:equivalentTo", source="Orphanet:309152/specific", source="Orphanet:309152/e"} xref: MESH:D020143 {source="DOID:3321", source="MONDO:equivalentTo"} xref: Orphanet:309152 {source="MONDO:equivalentTo"} xref: SCTID:33316007 {source="DOID:3321", source="MONDO:equivalentTo"} xref: UMLS:C0268274 {source="DOID:3321", source="Orphanet:309152", source="MONDO:equivalentTo", source="Orphanet:309152/e"} is_a: MONDO:0017719 {source="DOID:3321", source="Orphanet:309152"} ! gangliosidosis is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:309152"} ! inherited neurodegenerative disorder property_value: exactMatch DOID:3321 property_value: exactMatch http://identifiers.org/mesh/D020143 property_value: exactMatch http://identifiers.org/snomedct/33316007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268274 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E75.0 property_value: exactMatch Orphanet:309152 [Term] id: MONDO:0017721 name: Sandhoff disease, infantile form subset: ordo_clinical_subtype {source="Orphanet:309155"} synonym: "Hexosaminidases A and B deficiency, infantile form" EXACT [Orphanet:309155] synonym: "infantile GM2 gangliosidosis 0 variant" EXACT [Orphanet:309155] xref: Orphanet:309155 {source="MONDO:equivalentTo"} xref: UMLS:CN203617 {source="MONDO:equivalentTo"} is_a: MONDO:0010006 {source="Orphanet:309155"} ! Sandhoff disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203617 property_value: exactMatch Orphanet:309155 [Term] id: MONDO:0017722 name: Sandhoff disease, juvenile form subset: ordo_clinical_subtype {source="Orphanet:309162"} synonym: "Hexosaminidases A and B deficiency, juvenile form" EXACT [Orphanet:309162] synonym: "juvenile GM2 gangliosidosis 0 variant" EXACT [Orphanet:309162] xref: Orphanet:309162 {source="MONDO:equivalentTo"} xref: UMLS:CN203618 {source="MONDO:equivalentTo"} is_a: MONDO:0010006 {source="Orphanet:309162"} ! Sandhoff disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203618 property_value: exactMatch Orphanet:309162 [Term] id: MONDO:0017723 name: Sandhoff disease, adult form def: "A Sandhoff disease that occurs in an adult." [MONDO:design_pattern] subset: ordo_clinical_subtype {source="Orphanet:309169"} synonym: "adult GM2 gangliosidosis 0 variant" EXACT [Orphanet:309169] synonym: "adult Sandhoff disease" EXACT [MONDO:design_pattern] synonym: "Hexosaminidases A and B deficiency, adult form" EXACT [Orphanet:309169] synonym: "Sandhoff disease of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: Orphanet:309169 {source="MONDO:equivalentTo"} xref: UMLS:CN203619 {source="MONDO:equivalentTo"} is_a: MONDO:0010006 {source="MONDO:Redundant", source="Orphanet:309169"} ! Sandhoff disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203619 property_value: exactMatch Orphanet:309169 [Term] id: MONDO:0017724 name: Tay-Sachs disease, b variant, infantile form subset: ordo_clinical_subtype {source="Orphanet:309178"} synonym: "GM2 gangliosidosis, B variant, infantile form" EXACT [Orphanet:309178] synonym: "hexosaminidase A deficiency, infantile form" EXACT [Orphanet:309178] xref: Orphanet:309178 {source="MONDO:equivalentTo"} xref: UMLS:CN203620 {source="MONDO:equivalentTo"} is_a: MONDO:0010100 {source="Orphanet:309178", source="https://orcid.org/0000-0001-5208-3432"} ! Tay-Sachs disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203620 property_value: exactMatch Orphanet:309178 [Term] id: MONDO:0017725 name: Tay-Sachs disease, b variant, juvenile form subset: ordo_clinical_subtype {source="Orphanet:309185"} synonym: "GM2 gangliosidosis, B variant, juvenile form" EXACT [Orphanet:309185] synonym: "hexosaminidase A deficiency, juvenile form" EXACT [Orphanet:309185] xref: Orphanet:309185 {source="MONDO:equivalentTo"} xref: UMLS:CN203621 {source="MONDO:equivalentTo"} is_a: MONDO:0010100 {source="Orphanet:309185", source="https://orcid.org/0000-0001-5208-3432"} ! Tay-Sachs disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203621 property_value: exactMatch Orphanet:309185 [Term] id: MONDO:0017726 name: Tay-Sachs disease, B variant, adult form subset: ordo_clinical_subtype {source="Orphanet:309192"} synonym: "GM2 gangliosidosis, B variant, adult form" EXACT [Orphanet:309192] synonym: "hexosaminidase A deficiency, adult form" EXACT [Orphanet:309192] xref: Orphanet:309192 {source="MONDO:equivalentTo"} xref: UMLS:C1848914 {source="Orphanet:309192", source="MONDO:equivalentTo"} is_a: MONDO:0010100 {source="Orphanet:309192", source="https://orcid.org/0000-0001-5208-3432"} ! Tay-Sachs disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848914 property_value: exactMatch Orphanet:309192 [Term] id: MONDO:0017728 name: Tay-Sachs disease, B1 variant subset: ordo_clinical_subtype {source="Orphanet:309239"} synonym: "GM2 gangliosidosis, B1 variant" EXACT [Orphanet:309239] synonym: "hexosaminidase A deficiency, B1 variant" EXACT [Orphanet:309239] xref: Orphanet:309239 {source="MONDO:equivalentTo"} xref: SCTID:238024005 {source="MONDO:equivalentTo"} is_a: MONDO:0010100 {source="Orphanet:309239", source="https://orcid.org/0000-0001-5208-3432"} ! Tay-Sachs disease property_value: exactMatch http://identifiers.org/snomedct/238024005 property_value: exactMatch Orphanet:309239 [Term] id: MONDO:0017729 name: metachromatic leukodystrophy, late infantile form subset: ordo_clinical_subtype {source="Orphanet:309256"} synonym: "arylsulfatase A deficiency, late infantile form" EXACT [Orphanet:309256] synonym: "MLD, late infantile form" EXACT [Orphanet:309256] xref: Orphanet:309256 {source="MONDO:equivalentTo"} is_a: MONDO:0009591 ! metachromatic leukodystrophy, juvenile form property_value: exactMatch Orphanet:309256 [Term] id: MONDO:0017730 name: metachromatic leukodystrophy, adult form subset: ordo_clinical_subtype {source="Orphanet:309271"} synonym: "arylsulfatase A deficiency, adult form" EXACT [Orphanet:309271] synonym: "MLD, adult form" EXACT [Orphanet:309271] xref: Orphanet:309271 {source="MONDO:equivalentTo"} is_a: MONDO:0009591 ! metachromatic leukodystrophy, juvenile form property_value: exactMatch Orphanet:309271 [Term] id: MONDO:0017731 name: glycoproteinosis comment: See https://github.com/monarch-initiative/monarch-disease-ontology/issues/227 {source="MONDO:cjm"} subset: disease_grouping subset: gard_rare {source="GARD:0010670"} subset: ordo_group_of_disorders {source="Orphanet:309279"} xref: Orphanet:309279 {source="MONDO:equivalentTo"} is_a: MONDO:0002561 {source="Orphanet:309279"} ! lysosomal storage disease property_value: exactMatch Orphanet:309279 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10670/glycoproteinosis xsd:anyURI {source="GARD:0010670"} [Term] id: MONDO:0017732 name: alpha-mannosidosis, infantile form subset: ordo_clinical_subtype {source="Orphanet:309282"} synonym: "lysosomal alpha-D-mannosidase deficiency, infantile form" EXACT [Orphanet:309282] xref: Orphanet:309282 {source="MONDO:equivalentTo"} is_a: MONDO:0009561 {source="Orphanet:309282"} ! alpha-mannosidosis property_value: exactMatch Orphanet:309282 [Term] id: MONDO:0017733 name: alpha-mannosidosis, adult form subset: ordo_clinical_subtype {source="Orphanet:309288"} synonym: "Alpha-mannosidosis adult-onset form" RELATED [GTR:AN0103811] synonym: "lysosomal alpha-D-mannosidase deficiency, adult form" EXACT [Orphanet:309288] xref: GTR:AN0103810 xref: GTR:AN0103811 xref: Orphanet:309288 {source="MONDO:equivalentTo"} xref: UMLS:CN036949 {source="MONDO:equivalentTo"} is_a: MONDO:0009561 {source="Orphanet:309288"} ! alpha-mannosidosis property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN036949 property_value: exactMatch Orphanet:309288 [Term] id: MONDO:0017734 name: sialidosis def: "Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations." [Orphanet:309294] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309294"} xref: MedDRA:10058800 {source="Orphanet:309294", source="Orphanet:309294/e"} xref: Orphanet:309294 {source="MONDO:equivalentTo"} xref: SCTID:38795005 {source="MONDO:equivalentTo"} is_a: MONDO:0019251 {source="Orphanet:309294"} ! oligosaccharidosis property_value: closeMatch http://identifiers.org/meddra/10058800 property_value: exactMatch http://identifiers.org/snomedct/38795005 property_value: exactMatch Orphanet:309294 [Term] id: MONDO:0017736 name: disorder of sialic acid metabolism subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309319"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:309319 {source="MONDO:equivalentTo"} xref: SCTID:238050009 {source="MONDO:equivalentTo"} xref: UMLS:C0342851 {source="Orphanet:309319", source="MONDO:equivalentTo", source="Orphanet:309319/e"} is_a: MONDO:0002561 {source="Orphanet:309319"} ! lysosomal storage disease property_value: exactMatch http://identifiers.org/snomedct/238050009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342851 property_value: exactMatch Orphanet:309319 [Term] id: MONDO:0017737 name: intermediate severe Salla disease subset: gard_rare {source="GARD:0010871"} subset: ordo_clinical_subtype {source="Orphanet:309331"} synonym: "Intermediate Salla disease" RELATED [GARD:0010871] xref: Orphanet:309331 {source="MONDO:equivalentTo"} xref: UMLS:CN203640 {source="MONDO:equivalentTo"} is_a: MONDO:0017706 {source="PMID:33340416"} ! disorder of carbohydrate transmembrane transport and absorption is_a: MONDO:0019366 {source="Orphanet:309331"} ! free sialic acid storage disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203640 property_value: exactMatch Orphanet:309331 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10871/intermediate-severe-salla-disease xsd:anyURI {source="GARD:0010871"} [Term] id: MONDO:0017738 name: lysosomal glycogen storage disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309337"} xref: ICD10CM:E74.0 {source="MONDO:relatedTo", source="Orphanet:309337/attributed", source="Orphanet:309337/ntbt", source="Orphanet:309337"} xref: Orphanet:309337 {source="MONDO:equivalentTo"} xref: UMLS:CN203642 {source="MONDO:equivalentTo"} is_a: MONDO:0002561 {source="Orphanet:309337"} ! lysosomal storage disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203642 property_value: exactMatch Orphanet:309337 [Term] id: MONDO:0017739 name: disorder of lysosomal-related organelles subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309340"} xref: Orphanet:309340 {source="MONDO:equivalentTo"} xref: UMLS:CN227186 {source="MONDO:equivalentTo"} is_a: MONDO:0019052 {source="Orphanet:309340"} ! inborn errors of metabolism property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227186 property_value: exactMatch Orphanet:309340 [Term] id: MONDO:0017740 name: disorder of protein N-glycosylation def: "A disease that has its basis in the disruption of protein N-linked glycosylation." [MONDO:patterns/basis_in_disruption_of_process] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309347"} synonym: "disorder of protein N-linked glycosylation" EXACT [MONDO:patterns/basis_in_disruption_of_process] synonym: "protein N-linked glycosylation disease" EXACT [MONDO:design_pattern] xref: Orphanet:309347 {source="MONDO:equivalentTo"} xref: UMLS:CN227187 {source="MONDO:equivalentTo"} is_a: MONDO:0015286 {source="Orphanet:309347"} ! congenital disorder of glycosylation is_a: MONDO:0045010 ! glycoprotein metabolism disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227187 property_value: exactMatch Orphanet:309347 [Term] id: MONDO:0017741 name: disorder of protein O-glycosylation def: "A disease that has its basis in the disruption of protein O-linked glycosylation." [MONDO:patterns/basis_in_disruption_of_process] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309447"} synonym: "disorder of protein O-linked glycosylation" EXACT [MONDO:patterns/basis_in_disruption_of_process] synonym: "protein O-linked glycosylation disease" EXACT [MONDO:design_pattern] xref: Orphanet:309447 {source="MONDO:equivalentTo"} xref: UMLS:CN227188 {source="MONDO:equivalentTo"} is_a: MONDO:0015286 {source="Orphanet:309447"} ! congenital disorder of glycosylation is_a: MONDO:0045010 ! glycoprotein metabolism disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227188 property_value: exactMatch Orphanet:309447 [Term] id: MONDO:0017742 name: disorder of O-xylosylglycan synthesis comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:309450"} xref: Orphanet:309450 {source="MONDO:equivalentTo"} xref: UMLS:CN227189 {source="MONDO:equivalentTo"} is_a: MONDO:0017741 {source="Orphanet:309450"} ! disorder of protein O-glycosylation property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227189 property_value: exactMatch Orphanet:309450 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0017743 name: disorder of O-N-acetylgalactosaminylglycan synthesis comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:309458"} xref: Orphanet:309458 {source="MONDO:equivalentTo"} xref: UMLS:CN227190 {source="MONDO:equivalentTo"} is_a: MONDO:0017741 {source="Orphanet:309458"} ! disorder of protein O-glycosylation property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227190 property_value: exactMatch Orphanet:309458 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0017744 name: disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:309463"} xref: Orphanet:309463 {source="MONDO:equivalentTo"} xref: UMLS:CN227191 {source="MONDO:equivalentTo"} is_a: MONDO:0017741 {source="Orphanet:309463"} ! disorder of protein O-glycosylation property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227191 property_value: exactMatch Orphanet:309463 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0017745 name: disorder of O-mannosylglycan synthesis comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:309469"} xref: Orphanet:309469 {source="MONDO:equivalentTo"} xref: UMLS:CN227192 {source="MONDO:equivalentTo"} is_a: MONDO:0017741 {source="Orphanet:309469"} ! disorder of protein O-glycosylation property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227192 property_value: exactMatch Orphanet:309469 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0017746 name: atypical Rett syndrome def: "A neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT)." [Orphanet:3095] subset: ordo_disease {source="Orphanet:3095"} synonym: "atypical RTT" EXACT [Orphanet:3095] synonym: "Rett like syndrome" RELATED [GARD:0004694] synonym: "Rett syndrome variant" EXACT [Orphanet:3095] xref: Orphanet:3095 {source="MONDO:equivalentTo"} xref: SCTID:718393002 {source="MONDO:equivalentTo"} xref: UMLS:C2748910 {source="MONDO:equivalentTo", source="Orphanet:3095"} is_a: EFO:0010642 {source="https://orcid.org/0000-0002-4142-7153"} ! Neurodevelopmental disorder relationship: disease_shares_features_of MONDO:0010726 ! Rett syndrome relationship: has_characteristic MONDO:0021136 {source="MONDO:0015680"} ! rare property_value: exactMatch http://identifiers.org/snomedct/718393002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748910 property_value: exactMatch Orphanet:3095 property_value: excluded_subClassOf MONDO:0000594 {source="MONDO:Redundant", source="Orphanet:3095"} property_value: excluded_subClassOf MONDO:0015653 {source="MONDO:Redundant", source="Orphanet:3095"} property_value: excluded_subClassOf MONDO:0017656 {source="MONDO:Redundant", source="Orphanet:3095"} property_value: excluded_subClassOf MONDO:0020119 {source="MONDO:Redundant", source="Orphanet:3095"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0017747 name: disorder of fucoglycosan synthesis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309505"} xref: Orphanet:309505 {source="MONDO:equivalentTo"} xref: UMLS:CN227193 {source="MONDO:equivalentTo"} is_a: MONDO:0017741 {source="Orphanet:309505"} ! disorder of protein O-glycosylation property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227193 property_value: exactMatch Orphanet:309505 [Term] id: MONDO:0017748 name: inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309515"} synonym: "disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation" RELATED [Orphanet:309515] synonym: "disorder of glycosphingolipid and GPI-anchored proteins glycosylation" EXACT [Orphanet:309515] xref: Orphanet:309515 {source="MONDO:equivalentTo"} xref: UMLS:CN227194 {source="MONDO:equivalentTo"} is_a: MONDO:0002525 ! inherited lipid metabolism disorder is_a: MONDO:0015286 {source="Orphanet:309515"} ! congenital disorder of glycosylation is_a: MONDO:0024321 {source="MONDO:cjm"} ! disorder of GPI anchor biosynthesis property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227194 property_value: exactMatch Orphanet:309515 [Term] id: MONDO:0017749 name: disorder of multiple glycosylation subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309526"} xref: Orphanet:309526 {source="MONDO:equivalentTo"} xref: UMLS:CN227195 {source="MONDO:equivalentTo"} is_a: MONDO:0015286 {source="Orphanet:309526"} ! congenital disorder of glycosylation property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227195 property_value: exactMatch Orphanet:309526 [Term] id: MONDO:0017750 name: defect in conserved oligomeric Golgi complex subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309568"} synonym: "defect in COG complex" EXACT [Orphanet:309568] xref: Orphanet:309568 {source="MONDO:equivalentTo"} is_a: MONDO:0017749 {source="MONDO:Redundant", source="Orphanet:309568"} ! disorder of multiple glycosylation property_value: exactMatch Orphanet:309568 [Term] id: MONDO:0017752 name: defect in V-ATPase subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309778"} xref: Orphanet:309778 {source="MONDO:equivalentTo"} is_a: MONDO:0017749 {source="Orphanet:309778"} ! disorder of multiple glycosylation property_value: exactMatch Orphanet:309778 [Term] id: MONDO:0017753 name: obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation subset: gard_rare {source="GARD:0012476"} subset: ordo_group_of_disorders {source="Orphanet:309810"} synonym: "disorder of peroxisomal alpha-, beta- and omega-oxidation" EXACT [GARD:0012476] xref: Orphanet:309810 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227198 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227198 property_value: exactMatch Orphanet:309810 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3316 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12476/disorder-of-peroxisomal-alpha--beta--and-omega-oxidation xsd:anyURI {source="GARD:0012476"} is_obsolete: true consider: MONDO:0019233 consider: MONDO:0100277 [Term] id: MONDO:0017754 name: inborn disorder of porphyrin metabolism def: "An inherited metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process." [MONDO:patterns/inborn_metabolic] comment: Editor note: we follow ORDO and treat this as inborn. However, some form of porphyria (e.g PCT) may be acquired. subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309813"} synonym: "disorder of porphyrin and haem metabolism" BROAD [Orphanet:309813] synonym: "inborn disorder of porphyrin and haem metabolism" EXACT [Orphanet:309813] synonym: "inborn error of porphyrin-containing compound metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn porphyrin-containing compound metabolic process disorder" EXACT [] synonym: "inherited disorder of porphyrin metabolism" EXACT [] synonym: "rare inborn error of porphyrin-containing compound metabolic process" EXACT [MONDO:patterns/inborn_metabolic] xref: ICD10CM:E80.4 {source="Orphanet:309813", source="MONDO:relatedTo", source="Orphanet:309813/btnt", source="Orphanet:309813/specific"} xref: Orphanet:309813 {source="MONDO:equivalentTo"} xref: SCTID:403832004 {source="MONDO:equivalentTo"} xref: UMLS:C1275125 {source="MONDO:equivalentTo"} is_a: MONDO:0019052 {source="MONDO:Redundant", source="Orphanet:309813"} ! inborn errors of metabolism is_a: MONDO:0037821 {source="MONDO:Redundant"} ! porphyrin metabolism disease property_value: exactMatch http://identifiers.org/snomedct/403832004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275125 property_value: exactMatch Orphanet:309813 [Term] id: MONDO:0017755 name: inborn disorder of bilirubin metabolism def: "An instance of bilirubin metabolism disease that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309816"} synonym: "bilirubin metabolism disorder" RELATED [] synonym: "disorder of bilirubin metabolism" BROAD [MONDO:0024289] synonym: "disorder of bilirubin metabolism and excretion" EXACT [] synonym: "hereditary bilirubin metabolism disease" EXACT [MONDO:patterns/hereditary] synonym: "inborn disorder of bilirubin metabolism and excretion" EXACT [] xref: Orphanet:309816 {source="MONDO:equivalentTo"} xref: UMLS:CN227200 {source="MONDO:equivalentTo"} is_a: MONDO:0017754 {source="Orphanet:309816"} ! inborn disorder of porphyrin metabolism is_a: MONDO:0024431 ! bilirubin metabolism disease intersection_of: MONDO:0024431 ! bilirubin metabolism disease intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227200 property_value: exactMatch Orphanet:309816 [Term] id: MONDO:0017756 name: disorder of pterin metabolism comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:309819"} xref: Orphanet:309819 {source="MONDO:equivalentTo"} xref: UMLS:CN227201 {source="MONDO:equivalentTo"} is_a: MONDO:0019219 {source="Orphanet:309819"} ! inborn disorder of neurotransmitter metabolism and transport property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227201 property_value: exactMatch Orphanet:309819 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0017757 name: disorder of metabolite absorption and transport subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309824"} xref: Orphanet:309824 {source="MONDO:equivalentTo"} xref: UMLS:CN227202 {source="MONDO:equivalentTo"} is_a: MONDO:0019052 {source="Orphanet:309824"} ! inborn errors of metabolism property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227202 property_value: exactMatch Orphanet:309824 [Term] id: MONDO:0017758 name: disorder of vitamin and non-protein cofactor absorption and transport subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309827"} synonym: "disorder of vitamin and non-protein cofactor absorption and transport" EXACT [Orphanet:309827] xref: Orphanet:309827 {source="MONDO:equivalentTo"} xref: UMLS:CN227203 {source="MONDO:equivalentTo"} is_a: MONDO:0017757 {source="Orphanet:309827"} ! disorder of metabolite absorption and transport property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227203 property_value: exactMatch Orphanet:309827 [Term] id: MONDO:0017759 name: disorder of catecholamine synthesis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309830"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:309830 {source="MONDO:equivalentTo"} xref: SCTID:237921002 {source="MONDO:equivalentTo"} xref: UMLS:C0342685 {source="Orphanet:309830/e", source="MONDO:equivalentTo", source="Orphanet:309830"} is_a: MONDO:0019219 {source="MONDO:Redundant", source="Orphanet:309830"} ! inborn disorder of neurotransmitter metabolism and transport property_value: exactMatch http://identifiers.org/snomedct/237921002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342685 property_value: exactMatch Orphanet:309830 [Term] id: MONDO:0017760 name: disorder of other vitamins and cofactors metabolism and transport comment: Reason: out of scope. MONDO:excludeGroupingClass. Term to consider:MONDO:0017757 disorder of metabolite absorption and transport subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:309833"} xref: Orphanet:309833 {source="MONDO:equivalentTo"} xref: UMLS:CN227204 {source="MONDO:equivalentTo"} is_a: MONDO:0017758 {source="Orphanet:309833"} ! disorder of vitamin and non-protein cofactor absorption and transport property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227204 property_value: exactMatch Orphanet:309833 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2022-09-01" xsd:string [Term] id: MONDO:0017761 name: disorder of mineral absorption and transport subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309836"} xref: ICD10CM:E83.1 {source="Orphanet:309836", source="MONDO:relatedTo", source="Orphanet:309836/btnt", source="Orphanet:309836/specific"} xref: ICD10CM:E83.3 {source="Orphanet:309836", source="MONDO:relatedTo", source="Orphanet:309836/btnt", source="Orphanet:309836/specific"} xref: Orphanet:309836 {source="MONDO:equivalentTo"} xref: UMLS:CN227205 {source="MONDO:equivalentTo"} is_a: MONDO:0017757 {source="Orphanet:309836"} ! disorder of metabolite absorption and transport property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227205 property_value: exactMatch Orphanet:309836 [Term] id: MONDO:0017762 name: disorder of copper metabolism def: "An inherited metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis." [MONDO:patterns/inborn_metabolic] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309839"} synonym: "copper Transport disorders" RELATED [GTR:AN0119091] synonym: "inborn cellular copper ion homeostasis disorder" EXACT [] synonym: "inborn error of cellular copper ion homeostasis" EXACT [MONDO:patterns/inborn_metabolic] synonym: "rare inborn error of cellular copper ion homeostasis" EXACT [MONDO:patterns/inborn_metabolic] xref: ICD9:275.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10061091 {source="Orphanet:309839", source="Orphanet:309839/e"} xref: Orphanet:309839 {source="MONDO:equivalentTo"} xref: SCTID:79886009 {source="MONDO:equivalentTo"} xref: UMLS:C0012714 {source="Orphanet:309839", source="MONDO:equivalentTo", source="Orphanet:309839/e"} xref: UMLS:CN043585 {source="MONDO:equivalentTo"} is_a: MONDO:0017761 {source="Orphanet:309839"} ! disorder of mineral absorption and transport property_value: closeMatch http://identifiers.org/meddra/10061091 property_value: exactMatch http://identifiers.org/snomedct/79886009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0012714 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN043585 property_value: exactMatch Orphanet:309839 [Term] id: MONDO:0017763 name: disorder of iron metabolism and transport subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309842"} xref: ICD10CM:E83.1 {source="Orphanet:309842/specific", source="MONDO:relatedTo", source="Orphanet:309842/e", source="Orphanet:309842"} xref: Orphanet:309842 {source="MONDO:equivalentTo"} xref: UMLS:CN227206 {source="MONDO:equivalentTo"} is_a: MONDO:0017761 {source="Orphanet:309842"} ! disorder of mineral absorption and transport property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227206 property_value: exactMatch Orphanet:309842 [Term] id: MONDO:0017764 name: disorder of zinc metabolism subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309845"} synonym: "disorder of zinc metabolism and transport" RELATED [Orphanet:309845] xref: ICD9:275.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10048260 {source="Orphanet:309845/e", source="Orphanet:309845"} xref: Orphanet:309845 {source="MONDO:equivalentTo"} xref: SCTID:46727001 {source="MONDO:equivalentTo"} is_a: MONDO:0017761 {source="Orphanet:309845"} ! disorder of mineral absorption and transport property_value: closeMatch http://identifiers.org/meddra/10048260 property_value: exactMatch http://identifiers.org/snomedct/46727001 property_value: exactMatch Orphanet:309845 [Term] id: MONDO:0017765 name: disorder of magnesium transport def: "An inherited metabolic disease that is has its basis in the disruption of magnesium ion transport." [MONDO:patterns/inborn_metabolic] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309848"} synonym: "inborn error of magnesium ion transport" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn magnesium ion transport disorder" EXACT [] synonym: "rare inborn error of magnesium ion transport" EXACT [MONDO:patterns/inborn_metabolic] xref: Orphanet:309848 {source="MONDO:equivalentTo"} xref: UMLS:CN227207 {source="MONDO:equivalentTo"} is_a: MONDO:0017761 {source="Orphanet:309848"} ! disorder of mineral absorption and transport property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227207 property_value: exactMatch Orphanet:309848 [Term] id: MONDO:0017766 name: disorder of manganese transport subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309851"} xref: Orphanet:309851 {source="MONDO:equivalentTo"} xref: UMLS:CN227208 {source="MONDO:equivalentTo"} is_a: MONDO:0017761 {source="Orphanet:309851"} ! disorder of mineral absorption and transport property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227208 property_value: exactMatch Orphanet:309851 [Term] id: MONDO:0017769 name: acquired immunodeficiency subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:310050"} xref: Orphanet:310050 {source="MONDO:equivalentTo"} is_a: EFO:0000540 {source="Orphanet:310050"} ! immune system disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0020008"} ! rare property_value: exactMatch Orphanet:310050 [Term] id: MONDO:0017770 name: Robinow-like syndrome def: "Robinow-like syndrome is characterized by the association of the clinical features present in Robinow syndrome (short stature, mesomelic brachymelia, macrocephaly, and hypoplastic genitalia), with anterior chamber cleavage anomalies. It has been described in two sisters and is transmitted as an autosomal recessive trait." [Orphanet:3105] subset: ordo_malformation_syndrome {source="Orphanet:3105"} synonym: "Saal-Greenstein syndrome" EXACT [Orphanet:3105] xref: Orphanet:3105 {source="MONDO:equivalentObsolete"} xref: SCTID:721905000 {source="MONDO:equivalentTo"} xref: UMLS:C4302956 {source="MONDO:equivalentTo"} xref: UMLS:CN203671 {source="MONDO:equivalentTo"} is_a: MONDO:0015160 {source="Orphanet:3105"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/snomedct/721905000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4302956 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203671 [Term] id: MONDO:0017771 name: Mayer-Rokitansky-Kuster-Hauser syndrome def: "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations)." [Orphanet:3109] subset: ordo_malformation_syndrome {source="Orphanet:3109"} synonym: "Mayer-Rokitansky-Küster-Hauser syndrome" RELATED [Orphanet:3109] synonym: "MRKH" EXACT ABBREVIATION [NCIT:C124853] synonym: "MRKH syndrome" EXACT [Orphanet:3109] synonym: "Mullerian aplasia/dysgenesis" EXACT [NCIT:C124853] synonym: "Rokitansky syndrome" EXACT [Orphanet:3109] xref: DOID:0112177 {source="MONDO:equivalentTo"} xref: MedDRA:10065148 {source="Orphanet:3109", source="Orphanet:3109/e"} xref: NCIT:C124853 {source="MONDO:equivalentTo"} xref: Orphanet:3109 {source="MONDO:equivalentTo"} is_a: MONDO:0015830 {source="Orphanet:3109"} ! partial bilateral aplasia of the mullerian ducts is_a: MONDO:0015846 ! syndromic uterovaginal malformation property_value: closeMatch http://identifiers.org/meddra/10065148 property_value: exactMatch DOID:0112177 property_value: exactMatch NCIT:C124853 property_value: exactMatch Orphanet:3109 [Term] id: MONDO:0017773 name: hypoalphalipoproteinemia def: "A metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood." [NCIT:C84774] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:31153"} xref: MedDRA:10065156 {source="Orphanet:31153/e", source="Orphanet:31153"} xref: MESH:D052456 {source="Orphanet:31153/e", source="MONDO:equivalentTo", source="Orphanet:31153"} xref: NCIT:C84774 {source="MONDO:equivalentTo"} xref: Orphanet:31153 {source="MONDO:equivalentTo"} xref: SCTID:190785000 {source="MONDO:equivalentTo"} xref: UMLS:C0473527 {source="Orphanet:31153/e", source="MONDO:equivalentTo", source="Orphanet:31153", source="NCIT:C84774"} is_a: EFO:0000589 {source="MESH:D052456/inferred", source="MONDO:Redundant", source="NCIT:C84774", source="Orphanet:31153/inferred"} ! metabolic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015904"} ! rare property_value: closeMatch http://identifiers.org/meddra/10065156 property_value: exactMatch http://identifiers.org/mesh/D052456 property_value: exactMatch http://identifiers.org/snomedct/190785000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0473527 property_value: exactMatch NCIT:C84774 property_value: exactMatch Orphanet:31153 [Term] id: MONDO:0017774 name: hypobetalipoproteinemia def: "A group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol." [https://orcid.org/0000-0001-5208-3432, Orphanet:31154] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:31154"} synonym: "hypo-beta-lipoproteinemia" EXACT [DOID:1390] xref: DOID:1390 {source="MONDO:equivalentTo"} xref: MESH:D006995 {source="Orphanet:31154/e", source="MONDO:equivalentTo", source="DOID:1390", source="Orphanet:31154"} xref: Orphanet:31154 {source="MONDO:equivalentTo"} xref: SCTID:190786004 {source="MONDO:equivalentTo", source="DOID:1390"} xref: UMLS:C0020597 {source="Orphanet:31154/e", source="MONDO:equivalentTo", source="DOID:1390", source="Orphanet:31154"} is_a: MONDO:0001822 {source="DOID:1390", source="MESH:D006995"} ! hypolipoproteinemia relationship: has_characteristic MONDO:0021136 {source="MONDO:0015904"} ! rare property_value: exactMatch DOID:1390 property_value: exactMatch http://identifiers.org/mesh/D006995 property_value: exactMatch http://identifiers.org/snomedct/190786004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020597 property_value: exactMatch Orphanet:31154 [Term] id: MONDO:0017778 name: lamellar ichthyosis def: "A keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma." [Orphanet:313] subset: ordo_disease {source="Orphanet:313"} synonym: "classic lamellar ichthyosis" EXACT [Orphanet:313] synonym: "congenital lamellar ichthyosis" EXACT [Orphanet:313] synonym: "LI" EXACT ABBREVIATION [Orphanet:313] xref: MedDRA:10023686 {source="Orphanet:313", source="Orphanet:313/e"} xref: NCIT:C84805 {source="MONDO:equivalentTo"} xref: Orphanet:313 {source="MONDO:equivalentTo"} is_a: MONDO:0017262 {source="PMID:20643494"} ! inherited non-syndromic ichthyosis is_a: MONDO:0020162 {source="Orphanet:313"} ! secondary ectropion property_value: closeMatch http://identifiers.org/meddra/10023686 property_value: exactMatch NCIT:C84805 property_value: exactMatch Orphanet:313 property_value: excluded_subClassOf MONDO:0019269 {source="MESH:D017490/inferred", source="NCIT:C84805", source="Orphanet:313/inferred"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2114 xsd:anyURI [Term] id: MONDO:0017779 name: alpha-N-acetylgalactosaminidase deficiency def: "Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity." [Orphanet:3137] subset: ordo_disease {source="Orphanet:3137"} synonym: "alpha-N-acetylgalactosaminidase activity disease" EXACT [MONDO:design_pattern] synonym: "disorder of alpha-N-acetylgalactosaminidase activity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "NAGA deficiency" EXACT [Orphanet:3137] synonym: "Schindler disease" EXACT [Orphanet:3137] xref: DOID:0112317 {source="MONDO:equivalentTo"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:3137 {source="MONDO:equivalentTo"} xref: SCTID:238048001 {source="MONDO:equivalentTo"} is_a: MONDO:0019251 {source="Orphanet:3137"} ! oligosaccharidosis property_value: exactMatch DOID:0112317 property_value: exactMatch http://identifiers.org/snomedct/238048001 property_value: exactMatch Orphanet:3137 [Term] id: MONDO:0017780 name: 20p13 microdeletion syndrome def: "20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported." [Orphanet:313781] subset: ordo_malformation_syndrome {source="Orphanet:313781"} synonym: "20p subtelomeric deletion syndrome" EXACT [Orphanet:313781] synonym: "Del(20)(p13)" EXACT [Orphanet:313781] synonym: "monosomy 20p13" EXACT [Orphanet:313781] xref: Orphanet:313781 {source="MONDO:equivalentTo"} xref: UMLS:CN203720 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:313781"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0016898 {source="Orphanet:313781"} ! partial monosomy of the short arm of chromosome 20 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203720 property_value: exactMatch Orphanet:313781 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:313781"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0017781 name: 12p12.1 microdeletion syndrome subset: ordo_malformation_syndrome {source="Orphanet:313884"} synonym: "Del(12)(p12.1)" EXACT [Orphanet:313884] synonym: "monosomy 12p12.1" EXACT [Orphanet:313884] xref: Orphanet:313884 {source="MONDO:equivalentTo"} xref: UMLS:CN203731 {source="MONDO:equivalentTo"} is_a: MONDO:0022174 {source="Orphanet:313884"} ! chromosome 12p deletion property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203731 property_value: exactMatch Orphanet:313884 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0017782 name: developmental and speech delay due to SOX5 deficiency def: "A rare genetic syndrome characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities)." [https://orcid.org/0000-0001-5208-3432, Orphanet:313892] subset: ordo_disease {source="Orphanet:313892"} xref: Orphanet:313892 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: exactMatch Orphanet:313892 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:313892"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0017785 name: PENS syndrome def: "PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and oftalmological abnormalities have also been reported." [Orphanet:313936] subset: ordo_disease {source="Orphanet:313936"} synonym: "papular epidermal nevi with skyline basal cell layers syndrome" EXACT [Orphanet:313936] xref: Orphanet:313936 {source="MONDO:equivalentTo"} xref: UMLS:CN203735 {source="MONDO:equivalentTo"} is_a: EFO:0009675 {source="Orphanet:313936"} ! melanocytic nevus is_a: MONDO:0015950 {source="Orphanet:313936"} ! inherited skin tumor property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203735 property_value: exactMatch Orphanet:313936 [Term] id: MONDO:0017786 name: 2q23.1 microduplication syndrome def: "2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioral problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported." [Orphanet:313947] subset: ordo_malformation_syndrome {source="Orphanet:313947"} synonym: "dup(2)(q23.1)" EXACT [Orphanet:313947] synonym: "trisomy 2q23.1" EXACT [Orphanet:313947] xref: Orphanet:313947 {source="MONDO:equivalentTo"} xref: SCTID:766816008 {source="MONDO:equivalentTo"} xref: UMLS:CN203736 {source="MONDO:equivalentTo"} is_a: MONDO:0016953 {source="Orphanet:313947"} ! partial duplication of the long arm of chromosome 2 property_value: exactMatch http://identifiers.org/snomedct/766816008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203736 property_value: exactMatch Orphanet:313947 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:313947"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI [Term] id: MONDO:0017787 name: erythroderma desquamativum comment: Editors note: check whether xref to HGNC:1331 is appropriate subset: gard_rare subset: ordo_disease {source="Orphanet:314"} synonym: "erythroderma desquamativa of Leiner" RELATED [GARD:0002191] synonym: "erythroderma desquamativum of infancy" RELATED [GARD:0002191, MESH:C535512] synonym: "generalised erythroderma, diarrhea, and failure to thrive" RELATED OMO:0003005 [] synonym: "generalized erythroderma, diarrhea, and failure to thrive" RELATED [GARD:0002191, MESH:C535512] synonym: "Leiner disease" EXACT [Orphanet:314] synonym: "Leiner-Moussous desquamative erythroderma" RELATED [GARD:0002191, MESH:C535512] xref: HGNC:1331 {source="GARD:0002191"} xref: MESH:C535512 {source="MONDO:equivalentTo"} xref: Orphanet:314 {source="MONDO:equivalentTo"} xref: UMLS:CN203737 {source="MONDO:equivalentTo"} is_a: EFO:0000540 {source="Orphanet:314"} ! immune system disease property_value: exactMatch http://identifiers.org/mesh/C535512 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203737 property_value: exactMatch Orphanet:314 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2191/erythroderma-desquamativa-of-leiner xsd:anyURI {source="GARD:0002191"} [Term] id: MONDO:0017788 name: contractures - webbed neck - micrognathia - hypoplastic nipples syndrome subset: ordo_malformation_syndrome {source="Orphanet:314002"} synonym: "Dinno syndrome" EXACT [Orphanet:314002] xref: Orphanet:314002 {source="MONDO:equivalentTo"} xref: UMLS:CN203738 {source="MONDO:equivalentTo"} is_a: MONDO:0015161 {source="Orphanet:314002"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203738 property_value: exactMatch Orphanet:314002 [Term] id: MONDO:0017791 name: high bone mass osteogenesis imperfecta subset: ordo_disease {source="Orphanet:314029"} synonym: "high bone mass OI" EXACT [Orphanet:314029] xref: ICD10CM:Q78.0 {source="Orphanet:314029", source="MONDO:relatedTo", source="Orphanet:314029/attributed", source="Orphanet:314029/ntbt"} xref: Orphanet:314029 {source="MONDO:equivalentTo"} xref: UMLS:CN203741 {source="MONDO:equivalentTo"} is_a: MONDO:0019019 {source="Orphanet:314029"} ! osteogenesis imperfecta property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203741 property_value: exactMatch Orphanet:314029 property_value: excluded_subClassOf MONDO:0019703 {source="Orphanet:314029"} [Term] id: MONDO:0017792 name: 7p22.1 microduplication syndrome def: "7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated." [Orphanet:314034] subset: ordo_malformation_syndrome {source="Orphanet:314034"} synonym: "dup(7)(p22.1)" EXACT [Orphanet:314034] synonym: "trisomy 7p22.1" EXACT [Orphanet:314034] xref: Orphanet:314034 {source="MONDO:equivalentTo"} xref: SCTID:764703002 {source="MONDO:equivalentTo"} xref: UMLS:CN203742 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:314034"} ! syndromic intellectual disability is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:314034"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0016944 {source="Orphanet:314034"} ! partial duplication of the short arm of chromosome 7 property_value: exactMatch http://identifiers.org/snomedct/764703002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203742 property_value: exactMatch Orphanet:314034 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI [Term] id: MONDO:0017793 name: marfanoid habitus-inguinal hernia-advanced bone age syndrome subset: ordo_malformation_syndrome {source="Orphanet:314041"} xref: Orphanet:314041 {source="MONDO:equivalentTo"} xref: UMLS:CN203743 {source="MONDO:equivalentTo"} is_a: MONDO:0019755 {source="MONDO:0015332-obsoleted"} ! developmental defect during embryogenesis property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203743 property_value: exactMatch Orphanet:314041 [Term] id: MONDO:0017794 name: Xq12-q13.3 duplication syndrome def: "Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients." [Orphanet:314389] subset: ordo_malformation_syndrome {source="Orphanet:314389"} synonym: "dup(X)(q12-q13.3)" EXACT [Orphanet:314389] xref: Orphanet:314389 {source="MONDO:equivalentTo"} xref: SCTID:764711007 {source="MONDO:equivalentTo"} xref: UMLS:CN203749 {source="MONDO:equivalentTo"} is_a: MONDO:0017010 {source="Orphanet:314389"} ! partial duplication of the long arm of chromosome X property_value: exactMatch http://identifiers.org/snomedct/764711007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203749 property_value: exactMatch Orphanet:314389 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI [Term] id: MONDO:0017795 name: ameloblastoma def: "The most common odontogenic tumor, arising from the epithelial component of the embryonic tooth and usually affecting the molar-ramus region of the mandible or maxilla. Although most ameloblastomas are morphologically and clinically benign, they may cause extensive local destruction, recur, or metastasize." [NCIT:C4313] subset: gard_rare subset: ordo_disease {source="Orphanet:314419"} synonym: "adamantinoma" RELATED DEPRECATED [Wikipedia:Adamantinoma] synonym: "Adenoameloblastoma" RELATED [GARD:0005747] synonym: "adenomatoid odontogenic tumor" RELATED [GARD:0005747] synonym: "adenomatoid odontogenic tumour" RELATED OMO:0003005 [] synonym: "ameloblastoma" EXACT [NCIT:C4313] synonym: "ameloblastoma of jaw" EXACT [Orphanet:314419] synonym: "aot" RELATED [GARD:0005747] xref: DOID:0050894 {source="MONDO:equivalentTo"} xref: ICDO:9310/0 {source="NCIT:C4313"} xref: MedDRA:10066796 {source="Orphanet:314419", source="Orphanet:314419/e"} xref: MESH:D000564 {source="MONDO:equivalentTo"} xref: NCIT:C4313 {source="MONDO:equivalentTo"} xref: Orphanet:314419 {source="MONDO:equivalentTo"} xref: SCTID:285311001 {source="MONDO:equivalentTo"} xref: UMLS:C0002448 {source="MONDO:equivalentTo", source="NCIT:C4313", source="Orphanet:314419", source="Orphanet:314419/e"} xref: UMLS:C0563212 {source="MONDO:equivalentTo"} is_a: MONDO:0000636 ! musculoskeletal system benign neoplasm is_a: MONDO:0021192 {source="MESH:D000564", source="MONDO:Redundant", source="NCIT:C4313", source="Orphanet:314419"} ! odontogenic neoplasm is_a: MONDO:0036976 ! benign epithelial neoplasm relationship: has_characteristic MONDO:0021136 {source="MONDO:0017797"} ! rare property_value: closeMatch http://identifiers.org/meddra/10066796 property_value: exactMatch DOID:0050894 property_value: exactMatch http://identifiers.org/mesh/D000564 property_value: exactMatch http://identifiers.org/snomedct/285311001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002448 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0563212 property_value: exactMatch NCIT:C4313 property_value: exactMatch Orphanet:314419 [Term] id: MONDO:0017804 name: autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome def: "Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome is a rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures." [Orphanet:314572] subset: ordo_disease {source="Orphanet:314572"} xref: Orphanet:314572 {source="MONDO:equivalentTo"} xref: UMLS:CN203767 {source="MONDO:equivalentTo"} is_a: MONDO:0020240 {source="Orphanet:314572"} ! syndromic retinitis pigmentosa property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203767 property_value: exactMatch Orphanet:314572 [Term] id: MONDO:0017805 name: intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome subset: ordo_malformation_syndrome {source="Orphanet:314575"} xref: Orphanet:314575 {source="MONDO:equivalentTo"} xref: UMLS:CN203768 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:314575"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0100239 {source="MONDO:cjm"} ! inherited hypertrophic pyloric stenosis property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203768 property_value: exactMatch Orphanet:314575 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:314575"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0017806 name: 15q overgrowth syndrome def: "15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly." [Orphanet:314585] subset: ordo_malformation_syndrome {source="Orphanet:314585"} synonym: "15q26 overgrowth syndrome" EXACT [DECIPHER:81] xref: DECIPHER:81 {source="MONDO:equivalentTo"} xref: Orphanet:314585 {source="MONDO:equivalentTo"} xref: UMLS:CN203769 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:314585"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0016965 {source="Orphanet:314585"} ! partial duplication of the long arm of chromosome 15 is_a: MONDO:0019716 {source="https://orcid.org/0000-0001-5208-3432"} ! overgrowth syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203769 property_value: exactMatch Orphanet:314585 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:314585"} property_value: excluded_subClassOf MONDO:0020226 {source="Orphanet:314585"} [Term] id: MONDO:0017808 name: duplication of the pituitary gland subset: ordo_morphological_anomaly {source="Orphanet:314621"} synonym: "DPG-plus syndrome" EXACT [Orphanet:314621] synonym: "Duplication of the pituitary gland-plus syndrome" EXACT [Orphanet:314621] synonym: "hypophyseal duplication" EXACT [Orphanet:314621] xref: Orphanet:314621 {source="MONDO:equivalentTo"} xref: UMLS:CN203774 {source="MONDO:equivalentTo"} is_a: EFO:0001379 {source="MONDO:0015889-obsoleted"} ! endocrine system disease is_a: MONDO:0017090 {source="Orphanet:314621"} ! midline cerebral malformation property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203774 property_value: exactMatch Orphanet:314621 [Term] id: MONDO:0017809 name: parkinsonism due to ATP13A2 deficiency subset: ordo_disease {source="Orphanet:314632"} synonym: "CLN12 disease" EXACT [Orphanet:314632] xref: Orphanet:314632 {source="MONDO:equivalentTo"} xref: UMLS:CN203776 {source="MONDO:equivalentTo"} is_a: MONDO:0011706 ! Kufor-Rakeb syndrome is_a: MONDO:0019262 ! juvenile neuronal ceroid lipofuscinosis property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203776 property_value: exactMatch Orphanet:314632 [Term] id: MONDO:0017810 name: variant ABeta2M amyloidosis def: "A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy." [Orphanet:314652] subset: ordo_disease {source="Orphanet:314652"} synonym: "autosomal dominant beta2-microglobulinic amyloidosis" EXACT [Orphanet:314652] xref: DOID:0080929 {source="MONDO:equivalentTo"} xref: Orphanet:314652 {source="MONDO:equivalentTo"} xref: SCTID:722292000 {source="MONDO:equivalentTo"} xref: UMLS:C4302669 {source="MONDO:equivalentTo"} xref: UMLS:CN203779 {source="MONDO:equivalentTo"} is_a: MONDO:0018590 {source="Orphanet:314652"} ! ABeta2M amyloidosis is_a: MONDO:0018634 {source="Orphanet:314652"} ! hereditary amyloidosis property_value: exactMatch DOID:0080929 property_value: exactMatch http://identifiers.org/snomedct/722292000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4302669 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203779 property_value: exactMatch Orphanet:314652 [Term] id: MONDO:0017811 name: severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion subset: ordo_clinical_subtype {source="Orphanet:314655"} synonym: "5q31.3 microdeletion syndrome" EXACT [Orphanet:314655] synonym: "Del(5)(q31.3)" EXACT [Orphanet:314655] synonym: "monosomy 5q31.3" EXACT [Orphanet:314655] xref: Orphanet:314655 {source="MONDO:equivalentTo"} xref: SCTID:768555009 {source="MONDO:equivalentTo"} xref: UMLS:CN203780 {source="MONDO:equivalentTo"} is_a: MONDO:0016904 {source="Orphanet:314655"} ! partial deletion of the long arm of chromosome 5 is_a: MONDO:0018580 {source="Orphanet:314655"} ! PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome property_value: exactMatch http://identifiers.org/snomedct/768555009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203780 property_value: exactMatch Orphanet:314655 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0017812 name: segmental progressive overgrowth syndrome with fibroadipose hyperplasia def: "A rare PIK3CA-related overgrowth syndrome disease characterized by segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable, although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones, and progresses in a distal to proximal patten. Congenital overgrowth is typically associated." [Orphanet:314662] subset: ordo_disease {source="Orphanet:314662"} xref: Orphanet:314662 {source="MONDO:equivalentTo"} xref: UMLS:CN203781 {source="MONDO:equivalentTo"} is_a: MONDO:0035162 {source="https://orcid.org/0000-0003-1493-865X"} ! PIK3CA-related overgrowth syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203781 property_value: exactMatch Orphanet:314662 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5210 xsd:anyURI [Term] id: MONDO:0017813 name: van Maldergem syndrome def: "Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia." [Orphanet:314679] subset: ordo_malformation_syndrome {source="Orphanet:314679"} synonym: "cerebro-facio-articular syndrome" EXACT [DOID:0060238] synonym: "cerebro-facio-articular syndrome of Van Maldergem" RELATED [GARD:0005456] synonym: "Van Maldergem syndrome" EXACT [Orphanet:314679] synonym: "Van Maldergem Wetzburger Verloes syndrome" RELATED [GARD:0005456] xref: DOID:0060238 {source="MONDO:equivalentTo"} xref: OMIMPS:601390 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:314679 {source="MONDO:equivalentTo", source="DOID:0060238"} xref: UMLS:CN203783 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0015159 {source="Orphanet:314679"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch DOID:0060238 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203783 property_value: exactMatch https://omim.org/phenotypicSeries/PS601390 property_value: exactMatch Orphanet:314679 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:314679"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0017814 name: primary bone lymphoma def: "A rare non-Hodgkin lymphoma or even more rarely, a Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement. The femur, spine, and pelvic bones are the most commonly affected sites. The majority of patients present with bone pain in the affected area. A single bone or multiple skeletal sites may be involved. The prognosis is related to the cell type and the stage of the disease." [NCIT:C6620] subset: ordo_disease {source="Orphanet:314684"} synonym: "bone lymphoma" RELATED [DOID:6759] synonym: "bone tissue lymphoma" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "lymphoma of bone" EXACT [DOID:6759] synonym: "lymphoma of bone tissue" EXACT [MONDO:design_pattern] synonym: "lymphoma of the bone" EXACT [DOID:6759] synonym: "primary lymphoma of bone" EXACT [NCIT:C6620] synonym: "primary lymphoma of the bone" EXACT [NCIT:C6620] xref: DOID:6759 {source="MONDO:equivalentTo"} xref: NCIT:C6620 {source="MONDO:equivalentTo", source="DOID:6759"} xref: Orphanet:314684 {source="MONDO:equivalentTo"} xref: SCTID:766935007 {source="MONDO:equivalentTo"} xref: UMLS:C1332582 {source="MONDO:equivalentTo", source="NCIT:C6620", source="DOID:6759"} is_a: EFO:1000350 {source="NCIT:C6620"} ! Malignant Bone Neoplasm is_a: MONDO:0017207 {source="Orphanet:314684"} ! primary organ-specific lymphoma is_a: MONDO:0023603 ! hereditary disorder of connective tissue property_value: exactMatch DOID:6759 property_value: exactMatch http://identifiers.org/snomedct/766935007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332582 property_value: exactMatch NCIT:C6620 property_value: exactMatch Orphanet:314684 property_value: excluded_subClassOf MONDO:0002129 {source="DOID:6759"} [Term] id: MONDO:0017815 name: acquired porencephaly def: "An instance of porencephaly that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] subset: ordo_etiological_subtype {source="Orphanet:314697"} synonym: "acquired porencephaly" EXACT [MONDO:patterns/acquired] xref: Orphanet:314697 {source="MONDO:equivalentTo"} xref: SCTID:38837006 {source="MONDO:equivalentTo"} xref: UMLS:C0151860 {source="Orphanet:314697", source="MONDO:equivalentTo", source="Orphanet:314697/e"} is_a: MONDO:0017410 {source="MONDO:Redundant", source="Orphanet:314697"} ! porencephaly intersection_of: MONDO:0017410 ! porencephaly intersection_of: has_characteristic MONDO:0021141 ! acquired relationship: has_characteristic MONDO:0021141 ! acquired property_value: exactMatch http://identifiers.org/snomedct/38837006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151860 property_value: exactMatch Orphanet:314697 [Term] id: MONDO:0017816 name: primary systemic amyloidosis def: "Primary systemic amyloidosis (PSA) is a form of AL amyloidosis caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by multiple organ involvement." [Orphanet:314701] subset: ordo_clinical_subtype {source="Orphanet:314701"} synonym: "systemic AL amyloidosis" EXACT [Orphanet:314701] synonym: "systemic amyloidosis" EXACT [NCIT:C8299] synonym: "systemic Immunoglobulin Light chain amyloidosis" EXACT [NCIT:C8299] xref: NCIT:C8299 {source="MONDO:equivalentTo"} xref: Orphanet:314701 {source="MONDO:equivalentTo"} xref: SCTID:89449005 {source="MONDO:equivalentTo"} xref: UMLS:C0268380 {source="NCIT:C8299", source="MONDO:equivalentTo"} xref: UMLS:C0281479 {source="MONDO:equivalentTo"} is_a: MONDO:0019438 {source="Orphanet:314701"} ! AL amyloidosis property_value: exactMatch http://identifiers.org/snomedct/89449005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268380 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0281479 property_value: exactMatch NCIT:C8299 property_value: exactMatch Orphanet:314701 [Term] id: MONDO:0017817 name: primary localized amyloidosis def: "Primary localized amyloidosis is a form of AL amyloidosis caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin." [Orphanet:314709] subset: ordo_clinical_subtype {source="Orphanet:314709"} synonym: "localised AL amyloidosis" EXACT OMO:0003005 [] synonym: "localized AL amyloidosis" EXACT [Orphanet:314709] xref: Orphanet:314709 {source="MONDO:equivalentTo"} is_a: MONDO:0019438 {source="Orphanet:314709"} ! AL amyloidosis property_value: exactMatch Orphanet:314709 [Term] id: MONDO:0017818 name: lethal arteriopathy syndrome due to fibulin-4 deficiency subset: ordo_disease {source="Orphanet:314718"} xref: Orphanet:314718 {source="MONDO:equivalentTo"} xref: UMLS:CN203788 {source="MONDO:equivalentTo"} is_a: EFO:0004264 {source="Orphanet:314718", source="Orphanet:314718/inferred"} ! vascular disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0016517"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203788 property_value: exactMatch Orphanet:314718 [Term] id: MONDO:0017819 name: atypical dentin dysplasia due to SMOC2 deficiency subset: ordo_clinical_subtype {source="Orphanet:314721"} synonym: "dentin dysplasia type 1 with microdontia and shape anomalies" EXACT [Orphanet:314721] xref: Orphanet:314721 {source="MONDO:equivalentTo"} xref: UMLS:CN203789 {source="MONDO:equivalentTo"} is_a: MONDO:0007436 ! dentin dysplasia type I property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203789 property_value: exactMatch Orphanet:314721 [Term] id: MONDO:0017824 name: familial isolated pituitary adenoma comment: Editor note: TODO check this subset: ordo_disease {source="Orphanet:314777"} synonym: "FIPA" EXACT ABBREVIATION [Orphanet:314777] xref: ICD10CM:D35.2 {source="Orphanet:314777", source="MONDO:relatedTo", source="Orphanet:314777/ntbt"} xref: OMIMPS:102200 {source="MONDO:equivalentTo"} xref: Orphanet:314777 {source="MONDO:equivalentTo"} xref: SCTID:702375004 {source="MONDO:equivalentTo"} xref: UMLS:CN239192 {source="MONDO:equivalentTo"} xref: UMLS:CN244420 {source="MONDO:equivalentTo"} is_a: EFO:1000478 ! Pituitary Gland Adenoma is_a: MONDO:0023603 ! hereditary disorder of connective tissue intersection_of: EFO:1000478 ! Pituitary Gland Adenoma intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/snomedct/702375004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239192 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244420 property_value: exactMatch https://omim.org/phenotypicSeries/PS102200 property_value: exactMatch Orphanet:314777 [Term] id: MONDO:0017828 name: primary renal tubular acidosis comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:314822"} xref: Orphanet:314822 {source="MONDO:equivalentTo"} is_a: MONDO:0015962 {source="Orphanet:314822"} ! inherited renal tubular disease property_value: exactMatch Orphanet:314822 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0017829 name: autosomal dominant proximal renal tubular acidosis def: "Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications." [Orphanet:314889] subset: ordo_clinical_subtype {source="Orphanet:314889"} synonym: "AD pRTA" EXACT [Orphanet:314889] synonym: "proximal renal tubular acidosis, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: Orphanet:314889 {source="MONDO:equivalentTo"} xref: UMLS:CN203801 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0008369 {source="MONDO:Redundant", source="Orphanet:314889"} ! proximal renal tubular acidosis property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203801 property_value: exactMatch Orphanet:314889 [Term] id: MONDO:0017830 name: severe Canavan disease def: "Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia." [Orphanet:314911] subset: ordo_clinical_subtype {source="Orphanet:314911"} synonym: "infantile Canavan disease" EXACT [Orphanet:314911] synonym: "neonatal Canavan disease" EXACT [Orphanet:314911] xref: Orphanet:314911 {source="MONDO:equivalentTo"} xref: UMLS:CN203803 {source="MONDO:equivalentTo"} is_a: MONDO:0010079 {source="Orphanet:314911"} ! Canavan disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203803 property_value: exactMatch Orphanet:314911 [Term] id: MONDO:0017831 name: mild Canavan disease def: "Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development." [Orphanet:314918] subset: ordo_clinical_subtype {source="Orphanet:314918"} synonym: "juvenile Canavan disease" EXACT [Orphanet:314918] xref: Orphanet:314918 {source="MONDO:equivalentTo"} is_a: MONDO:0010079 {source="Orphanet:314918"} ! Canavan disease property_value: exactMatch Orphanet:314918 [Term] id: MONDO:0017836 name: erythrokeratoderma en cocardes def: "Erythrokeratoderma 'en cocardes' is a rare genodermatosis characterized by circumscribed target-like (or 'en cocardes') erythematous hyperkeratotic lesions. These lesions, which remit and recur, affect the trunk and extremities and are accompanied by scaly plaques evocative of erythrokeratoderma variabilis. Onset usually occurs at birth or during early childhood. Only few cases have been described. Transmission is autosomal dominant." [Orphanet:315] subset: gard_rare subset: ordo_disease {source="Orphanet:315"} synonym: "Degos 'en cocarde' erythrokeratoderma" RELATED [GARD:0001722] synonym: "Degos genodermatosis" EXACT [Orphanet:315] synonym: "Degos genodermatosis \"en cocardes\"" EXACT [Orphanet:315] synonym: "Degos genodermatosis 'en cocardes'" RELATED [GARD:0001722] synonym: "erythrokeratoderma \"en cocardes\"" RELATED [Orphanet:315] synonym: "erythrokeratoderma ''en cocardes''" RELATED [Orphanet:315] synonym: "erythrokeratoderma 'en cocardes'" RELATED [GARD:0001722] xref: ICD9:447.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:315 {source="GARD:0001722", source="MONDO:equivalentTo"} xref: SCTID:239062001 {source="MONDO:equivalentTo"} xref: UMLS:C0221011 {source="MONDO:relatedTo", source="GARD:0001722"} xref: UMLS:CN203813 {source="MONDO:equivalentTo"} is_a: MONDO:0019270 {source="Orphanet:315"} ! erythrokeratoderma property_value: exactMatch http://identifiers.org/snomedct/239062001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203813 property_value: exactMatch Orphanet:315 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1722/degos-en-cocarde-erythrokeratoderma xsd:anyURI {source="GARD:0001722"} [Term] id: MONDO:0017837 name: multiple sclerosis-ichthyosis-factor VIII deficiency syndrome def: "Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992." [Orphanet:3151] subset: ordo_disease {source="Orphanet:3151"} xref: Orphanet:3151 {source="MONDO:equivalentTo"} xref: UMLS:CN203814 {source="MONDO:equivalentTo"} is_a: MONDO:0002242 {source="MONDO:0019039-obsoleted"} ! coagulation protein disease is_a: MONDO:0002243 ! hemorrhagic disease is_a: MONDO:0017270 ! autosomal ichthyosis syndrome is_a: MONDO:0021181 ! inherited blood coagulation disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203814 property_value: exactMatch Orphanet:3151 [Term] id: MONDO:0017838 name: sclerosteosis def: "Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure." [Orphanet:3152] subset: ordo_malformation_syndrome {source="Orphanet:3152"} synonym: "cortical hyperostosis with syndactyly" EXACT [NCIT:C131133] synonym: "cortical hyperostosis-syndactyly syndrome" EXACT [Orphanet:3152] xref: DOID:0060251 {source="MONDO:equivalentTo"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537525 {source="Orphanet:3152/e", source="MONDO:equivalentTo", source="Orphanet:3152", source="DOID:0060251"} xref: NCIT:C131133 {source="MONDO:equivalentTo"} xref: OMIMPS:269500 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:3152 {source="MONDO:equivalentTo", source="DOID:0060251"} xref: SCTID:17568006 {source="MONDO:equivalentTo", source="DOID:0060251"} xref: UMLS:C0265301 {source="Orphanet:3152/e", source="MONDO:equivalentTo", source="NCIT:C131133", source="Orphanet:3152", source="DOID:0060251"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0002185 {source="DOID:0060251", source="MESH:C537525"} ! hyperostosis property_value: exactMatch DOID:0060251 property_value: exactMatch http://identifiers.org/mesh/C537525 property_value: exactMatch http://identifiers.org/snomedct/17568006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265301 property_value: exactMatch https://omim.org/phenotypicSeries/PS269500 property_value: exactMatch NCIT:C131133 property_value: exactMatch Orphanet:3152 property_value: excluded_subClassOf MONDO:0019703 {source="Orphanet:3152"} [Term] id: MONDO:0017839 name: classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form def: "The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." [Orphanet:315306] subset: ordo_clinical_subtype {source="Orphanet:315306"} synonym: "classic 21-OHD CAH, salt wasting form" EXACT [Orphanet:315306] xref: Orphanet:315306 {source="MONDO:equivalentTo"} is_a: MONDO:0008728 {source="Orphanet:315306"} ! classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency property_value: exactMatch Orphanet:315306 [Term] id: MONDO:0017840 name: classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form def: "The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." [Orphanet:315311] subset: ordo_clinical_subtype {source="Orphanet:315311"} synonym: "classic 21-OHD CAH, simple virilizing form" EXACT [Orphanet:315311] xref: Orphanet:315311 {source="MONDO:equivalentTo"} is_a: MONDO:0008728 {source="Orphanet:315311"} ! classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency property_value: exactMatch Orphanet:315311 [Term] id: MONDO:0017842 name: Senior-Loken syndrome def: "Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy." [Orphanet:3156] subset: ordo_disease {source="Orphanet:3156"} synonym: "Loken Senior syndrome" EXACT [DOID:0050576] synonym: "nephronophthisis with retinal dystrophy" EXACT [Orphanet:3156] synonym: "renal dysplasia retinal aplasia" RELATED [GARD:0000322] synonym: "renal dysplasia-retinal aplasia syndrome" EXACT [Orphanet:3156] synonym: "renal-retinal syndrome" EXACT [DOID:0050576] synonym: "Senior Loken syndrome" RELATED [GARD:0000322] synonym: "SLSN" EXACT ABBREVIATION [Orphanet:3156] xref: DOID:0050576 {source="MONDO:equivalentTo"} xref: MESH:C537580 {source="Orphanet:3156", source="MONDO:equivalentTo", source="Orphanet:3156/e"} xref: NCIT:C168588 {source="MONDO:equivalentTo"} xref: OMIMPS:266900 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:3156 {source="DOID:0050576", source="MONDO:equivalentTo"} xref: UMLS:CN117960 {source="MONDO:equivalentTo"} is_a: EFO:1000017 {source="DOID:0050576", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015962 {source="Orphanet:3156"} ! inherited renal tubular disease is_a: MONDO:0020238 {source="Orphanet:3156"} ! inherited vitreous-retinal disease is_a: MONDO:0022409 ! nephropathy-associated ciliopathy is_a: MONDO:0022410 ! retinal ciliopathy property_value: exactMatch DOID:0050576 property_value: exactMatch http://identifiers.org/mesh/C537580 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN117960 property_value: exactMatch https://omim.org/phenotypicSeries/PS266900 property_value: exactMatch NCIT:C168588 property_value: exactMatch Orphanet:3156 [Term] id: MONDO:0017845 name: spastic ataxia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:316226"} synonym: "SPAX" EXACT ABBREVIATION [Orphanet:316226] xref: DOID:0050952 {source="MONDO:equivalentTo"} xref: ICD10CM:G11.4 {source="Orphanet:316226", source="Orphanet:316226/index", source="MONDO:relatedTo", source="Orphanet:316226/ntbt"} xref: MESH:C564815 {source="MONDO:equivalentTo"} xref: OMIMPS:108600 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:316226 {source="MONDO:equivalentTo"} xref: UMLS:C1849156 {source="Orphanet:316226", source="MONDO:equivalentTo"} is_a: EFO:0009671 {source="DOID:0050952", source="Orphanet:316226"} ! hereditary ataxia property_value: exactMatch DOID:0050952 property_value: exactMatch http://identifiers.org/mesh/C564815 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849156 property_value: exactMatch https://omim.org/phenotypicSeries/PS108600 property_value: exactMatch Orphanet:316226 [Term] id: MONDO:0017846 name: autosomal dominant spastic ataxia def: "Autosomal dominant form of spastic ataxia." [MONDO:patterns/autosomal_dominant] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:316235"} synonym: "AD-SPAX" EXACT [Orphanet:316235] synonym: "spastic ataxia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: ICD10CM:G11.4 {source="MONDO:relatedTo", source="Orphanet:316235/attributed", source="Orphanet:316235/ntbt", source="Orphanet:316235"} xref: Orphanet:316235 {source="MONDO:equivalentTo"} xref: UMLS:CN229111 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0017845 {source="MONDO:Redundant", source="Orphanet:316235"} ! spastic ataxia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229111 property_value: exactMatch Orphanet:316235 [Term] id: MONDO:0017847 name: autosomal recessive spastic ataxia def: "Autosomal recessive form of spastic ataxia." [MONDO:patterns/autosomal_recessive] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:316240"} synonym: "AR-SPAX" EXACT [Orphanet:316240] synonym: "spastic ataxia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] xref: Orphanet:316240 {source="MONDO:equivalentTo"} xref: UMLS:CN229112 {source="MONDO:equivalentTo"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0017845 {source="MONDO:Redundant", source="Orphanet:316240"} ! spastic ataxia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229112 property_value: exactMatch Orphanet:316240 [Term] id: MONDO:0017849 name: Siegler-Brewer-Carey syndrome def: "Siegler-Brewer-Carey syndrome is characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection, and failure to thrive. It has been recently described in two sibs born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed." [Orphanet:3167] subset: gard_rare {source="GARD:0004867"} subset: ordo_malformation_syndrome {source="Orphanet:3167"} synonym: "fatal multisystem syndrome involving the eyes, ears, lungs, intestines, and kidneys" RELATED [GARD:0004867] synonym: "Siegler Brewer Carey syndrome" RELATED [GARD:0004867] xref: MESH:C537335 {source="Orphanet:3167", source="MONDO:equivalentTo", source="Orphanet:3167/e"} xref: Orphanet:3167 {source="MONDO:equivalentTo"} xref: SCTID:721076000 {source="MONDO:equivalentTo"} xref: UMLS:C2931473 {source="Orphanet:3167", source="MONDO:equivalentTo", source="Orphanet:3167/e"} is_a: EFO:0000684 {source="Orphanet:3167"} ! respiratory system disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015510"} ! rare property_value: exactMatch http://identifiers.org/mesh/C537335 property_value: exactMatch http://identifiers.org/snomedct/721076000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931473 property_value: exactMatch Orphanet:3167 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4867/siegler-brewer-carey-syndrome xsd:anyURI {source="GARD:0004867"} [Term] id: MONDO:0017850 name: sirenomelia def: "Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth." [Orphanet:3169] subset: ordo_malformation_syndrome {source="Orphanet:3169"} synonym: "Fused legs and feet" RELATED [GARD:0007652] synonym: "mermaid malformation" RELATED [GARD:0007652] synonym: "mermaid syndrome" RELATED [GARD:0007652] synonym: "sirenomelia sequence" RELATED [GARD:0007652] synonym: "Sirenomelus" RELATED [GARD:0007652] synonym: "symmelia" EXACT [NCIT:C118455] xref: MedDRA:10049216 {source="Orphanet:3169", source="Orphanet:3169/e"} xref: NCIT:C118455 {source="MONDO:equivalentTo"} xref: Orphanet:3169 {source="MONDO:equivalentTo"} xref: SCTID:67254002 {source="MONDO:equivalentTo"} xref: UMLS:C0037205 {source="Orphanet:3169", source="NCIT:C118455", source="MONDO:equivalentTo", source="Orphanet:3169/e"} is_a: MONDO:0010831 ! familial caudal dysgenesis property_value: closeMatch http://identifiers.org/meddra/10049216 property_value: exactMatch http://identifiers.org/snomedct/67254002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037205 property_value: exactMatch NCIT:C118455 property_value: exactMatch Orphanet:3169 [Term] id: MONDO:0017851 name: erythrokeratodermia variabilis def: "A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema." [https://orcid.org/0000-0001-5208-3432, NCIT:C84696] subset: gard_rare subset: ordo_disease {source="Orphanet:317", source="Orphanet:316"} synonym: "Darier-Gottron disease" RELATED [Orphanet:316] synonym: "EKV" EXACT ABBREVIATION [Orphanet:317] synonym: "EKVP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:133200] synonym: "erythrokeratodermia Figurata variabilis" EXACT [DOID:0050467] synonym: "erythrokeratodermia Figurata, congenital familial, in plaques" RELATED [OMIM:133200] synonym: "erythrokeratodermia figurata, congenital familial, in plaques" RELATED [GARD:0003096, MESH:C536154] synonym: "erythrokeratodermia progressiva symmetrica" RELATED [Orphanet:316] synonym: "erythrokeratodermia variabilis" EXACT [OMIM:133200] synonym: "erythrokeratodermia variabilis ET progressiva" RELATED [MONDO:Lexical, OMIM:133200] synonym: "erythrokeratodermia variabilis with erythema Gyratum Repens" RELATED [OMIM:133200] synonym: "erythrokeratodermia variabilis with erythema gyratum repens" RELATED [GARD:0003096, MESH:C536154] synonym: "erythrokeratodermia variabilis, Mendes da Costa type" EXACT [Orphanet:317] synonym: "erythrokeratodermia, progressive symmetric" RELATED [OMIM:133200] synonym: "Greither's disease" RELATED [GARD:0003096] synonym: "keratoderma palmoplantaris transgrediens" RELATED [GARD:0003096] synonym: "keratosis extremitatum hereditaria progrediens" RELATED [GARD:0003096] synonym: "keratosis palmoplantaris transgrediens Et progrediens" RELATED [OMIM:133200] synonym: "keratosis palmoplantaris transgrediens et progrediens" RELATED [GARD:0003096, MESH:C536154] synonym: "progressive symmetric erythrokeratodermia" RELATED [Orphanet:316] synonym: "progressive symmetric erythrokeratodermia, Gottron type" RELATED [Orphanet:316] xref: DOID:0050467 {source="MONDO:equivalentTo"} xref: MedDRA:10049048 {source="Orphanet:317", source="Orphanet:317/e"} xref: MESH:C536154 {source="MONDO:equivalentTo"} xref: MESH:D056266 {source="DOID:0050467", source="MONDO:equivalentTo"} xref: NCIT:C84696 {source="DOID:0050467", source="MONDO:equivalentTo"} xref: OMIMPS:133200 {source="MONDO:equivalentTo"} xref: Orphanet:316 {source="MONDO:equivalentTo", source="OMIM:133200"} xref: Orphanet:317 {source="MONDO:equivalentTo", source="OMIM:133200"} xref: SCTID:70041004 {source="DOID:0050467", source="MONDO:equivalentTo"} xref: UMLS:C0265961 {source="DOID:0050467", source="Orphanet:317", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:133200", source="Orphanet:317/e", source="NCIT:C84696"} is_a: MONDO:0017262 {source="Orphanet:317", source="PMID:20643494"} ! inherited non-syndromic ichthyosis is_a: MONDO:0017667 ! isolated diffuse palmoplantar keratoderma property_value: closeMatch http://identifiers.org/meddra/10049048 property_value: exactMatch DOID:0050467 property_value: exactMatch http://identifiers.org/mesh/C536154 property_value: exactMatch http://identifiers.org/mesh/D056266 property_value: exactMatch http://identifiers.org/snomedct/70041004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265961 property_value: exactMatch https://omim.org/phenotypicSeries/PS133200 property_value: exactMatch NCIT:C84696 property_value: exactMatch Orphanet:316 property_value: exactMatch Orphanet:317 property_value: excluded_subClassOf MONDO:0009490 {source="MESH:C536154"} property_value: excluded_subClassOf MONDO:0017681 {source="Orphanet:316", source="Orphanet:317"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3096/keratoderma-palmoplantaris-transgrediens xsd:anyURI {source="GARD:0003096"} [Term] id: MONDO:0017852 name: infantile spasms-broad thumbs syndrome def: "A rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990." [Orphanet:3173] subset: gard_rare subset: ordo_disease {source="Orphanet:3173"} synonym: "infantile spasms broad thumbs" RELATED [GARD:0003002] synonym: "Tsao Ellingson syndrome" RELATED [GARD:0003002] synonym: "Tsao-Ellingson syndrome" EXACT [Orphanet:3173] xref: Orphanet:3173 {source="GARD:0003002", source="MONDO:equivalentTo"} xref: UMLS:CN203849 {source="MONDO:equivalentTo"} is_a: MONDO:0020071 ! infantile epilepsy syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203849 property_value: exactMatch Orphanet:3173 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3002/infantile-spasms-broad-thumbs xsd:anyURI {source="GARD:0003002"} [Term] id: MONDO:0017853 name: hypersensitivity pneumonitis def: "Hypersensitivity pneumonitis (HP) is a pulmonary disease with symptoms of dyspnea and cough resulting from the inhalation of an antigen to which the subject has been previously sensitized." [Orphanet:31740] subset: disease_grouping subset: gard_rare subset: ordo_group_of_disorders {source="Orphanet:31740"} synonym: "allergic form of pneumonitis" EXACT [MONDO:patterns/allergic_form_of_disease] synonym: "allergic interstitial pneumonitis" RELATED [GARD:0000012] synonym: "allergic pneumonitis" EXACT [GARD:0000012, NCIT:C34369] synonym: "alveolitis" EXACT [DOID:841] synonym: "alveolitis, extrinsic allergic" RELATED [GARD:0000012] synonym: "exogen allergic alveolitis" EXACT [https://orcid.org/0000-0003-0113-912Xf] synonym: "extrinsic allergic alveolitis" EXACT [NCIT:C34369, Orphanet:31740] synonym: "extrinsic allergic pneumonia hypersensitivity pneumonitis" RELATED [GARD:0000012] synonym: "HP" EXACT ABBREVIATION [Orphanet:31740] synonym: "hypersensitivity pneumonitis" EXACT [DOID:841, GARD:0000012, NCIT:C34369] xref: DOID:841 {source="MONDO:equivalentTo"} xref: ICD10CM:J67.1 {source="Orphanet:31740", source="MONDO:relatedTo", source="Orphanet:31740/btnt"} xref: ICD10CM:J67.2 {source="Orphanet:31740", source="Orphanet:31740/btnt", source="MONDO:directSiblingOf"} xref: ICD9:495 {source="DOID:841"} xref: ICD9:495.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:495.9 {source="DOID:841", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10001890 {source="Orphanet:31740", source="Orphanet:31740/e"} xref: MESH:D000542 {source="Orphanet:31740", source="DOID:841", source="MONDO:equivalentTo", source="Orphanet:31740/e"} xref: NCIT:C34369 {source="DOID:841", source="MONDO:equivalentTo"} xref: Orphanet:31740 {source="GARD:0000012", source="MONDO:equivalentTo"} xref: SCTID:37471005 {source="DOID:841", source="MONDO:equivalentTo"} is_a: EFO:1001991 ! pneumonitis is_a: MONDO:0000771 {source="Orphanet:31740"} ! allergic respiratory disease is_a: MONDO:0017040 {source="Orphanet:31740"} ! exposure-related interstitial lung disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0020028"} ! rare property_value: closeMatch http://identifiers.org/meddra/10001890 property_value: exactMatch DOID:841 property_value: exactMatch http://identifiers.org/mesh/D000542 property_value: exactMatch http://identifiers.org/snomedct/37471005 property_value: exactMatch NCIT:C34369 property_value: exactMatch Orphanet:31740 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4323 xsd:anyURI [Term] id: MONDO:0017855 name: T-B- severe combined immunodeficiency def: "T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types." [Orphanet:317419] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:317419"} synonym: "T-B- SCID" EXACT [Orphanet:317419] xref: Orphanet:317419 {source="MONDO:equivalentTo"} is_a: MONDO:0015974 {source="Orphanet:317419"} ! severe combined immunodeficiency property_value: exactMatch Orphanet:317419 [Term] id: MONDO:0017856 name: X-linked spasticity-intellectual disability-epilepsy syndrome subset: ordo_disease {source="Orphanet:3175"} xref: Orphanet:3175 {source="MONDO:equivalentTo"} xref: UMLS:CN203866 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203866 property_value: exactMatch Orphanet:3175 property_value: excluded_subClassOf MONDO:0015921 {source="Orphanet:3175"} property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:3175"} [Term] id: MONDO:0017857 name: spina bifida-hypospadias syndrome def: "Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis." [Orphanet:3176] subset: ordo_malformation_syndrome {source="Orphanet:3176"} xref: Orphanet:3176 {source="MONDO:equivalentTo"} xref: UMLS:CN203872 {source="MONDO:equivalentTo"} is_a: MONDO:0015620 {source="Orphanet:3176"} ! syndromic urogenital tract malformation property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203872 property_value: exactMatch Orphanet:3176 [Term] id: MONDO:0017867 name: distal 17p13.1 microdeletion syndrome def: "Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline." [Orphanet:319171] subset: ordo_malformation_syndrome {source="Orphanet:319171"} synonym: "distal del(17)(p13.1)" EXACT [Orphanet:319171] xref: Orphanet:319171 {source="MONDO:equivalentTo"} xref: UMLS:CN203914 {source="MONDO:equivalentTo"} is_a: MONDO:0013415 ! chromosome 17p13.1 deletion syndrome is_a: MONDO:0015159 {source="Orphanet:319171"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203914 property_value: exactMatch Orphanet:319171 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:319171"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0017868 name: diencephalic-mesencephalic junction dysplasia def: "A rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionaly, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described." [https://orcid.org/0000-0001-5208-3432, Orphanet:319192] subset: ordo_morphological_anomaly {source="Orphanet:319192"} synonym: "diencephalic-mesencephalic junction dysplasia syndrome" EXACT [MONDO:0033211] xref: OMIMPS:251280 {source="MONDO:equivalentTo"} xref: Orphanet:319192 {source="MONDO:equivalentTo"} is_a: MONDO:0957008 ! hereditary cerebral malformation property_value: exactMatch https://omim.org/phenotypicSeries/PS251280 property_value: exactMatch Orphanet:319192 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6197 xsd:anyURI [Term] id: MONDO:0017869 name: chondroectodermal dysplasia with night blindness def: "Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates." [Orphanet:319195] subset: ordo_disease {source="Orphanet:319195"} xref: Orphanet:319195 {source="MONDO:equivalentTo"} is_a: EFO:0003966 {source="Orphanet:319195"} ! eye disease is_a: MONDO:0018230 {source="Orphanet:319195"} ! skeletal dysplasia is_a: MONDO:0019287 {source="Orphanet:319195"} ! ectodermal dysplasia syndrome property_value: exactMatch Orphanet:319195 property_value: excluded_subClassOf MONDO:0019704 {source="Orphanet:319195"} [Term] id: MONDO:0017891 name: inherited renal cancer-predisposing syndrome comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:319328"} xref: Orphanet:319328 {source="MONDO:equivalentTo"} xref: UMLS:CN203941 {source="MONDO:equivalentTo"} is_a: MONDO:0015356 {source="Orphanet:319328"} ! hereditary neoplastic syndrome is_a: MONDO:0100191 ! inherited kidney disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203941 property_value: exactMatch Orphanet:319328 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0017892 name: autosomal recessive myogenic arthrogryposis multiplex congenita def: "Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life." [Orphanet:319332] subset: ordo_disease {source="Orphanet:319332"} synonym: "autosomal recessive myogenic AMC" EXACT [Orphanet:319332] synonym: "SYNE1-related AMC" EXACT [Orphanet:319332] synonym: "SYNE1-related arthrogryposis multiplex congenita" EXACT [Orphanet:319332] xref: Orphanet:319332 {source="MONDO:equivalentTo"} xref: SCTID:764812008 {source="MONDO:equivalentTo"} xref: UMLS:CN203942 {source="MONDO:equivalentTo"} is_a: MONDO:0015168 {source="Orphanet:319332"} ! arthrogryposis multiplex congenita is_a: MONDO:0019950 {source="Orphanet:319332"} ! congenital muscular dystrophy property_value: exactMatch http://identifiers.org/snomedct/764812008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203942 property_value: exactMatch Orphanet:319332 [Term] id: MONDO:0017893 name: inherited acute myeloid leukemia def: "An instance of acute myeloid leukemia that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: ordo_disease {source="Orphanet:319465"} synonym: "familial AML" EXACT [Orphanet:319465] synonym: "hereditary acute myeloid leukaemia" EXACT OMO:0003005 [] synonym: "hereditary acute myeloid leukemia" EXACT [MONDO:patterns/hereditary] synonym: "inherited AML" EXACT [Orphanet:319465] synonym: "Pure familial acute myeloid leukaemia" EXACT OMO:0003005 [] synonym: "Pure familial acute myeloid leukemia" EXACT [Orphanet:319465] synonym: "Pure familial AML" EXACT [Orphanet:319465] xref: Orphanet:319465 {source="MONDO:equivalentTo"} xref: SCTID:764940002 {source="MONDO:equivalentTo"} xref: UMLS:CN203946 {source="MONDO:equivalentTo"} is_a: EFO:0000222 ! acute myeloid leukemia is_a: MONDO:0023603 ! hereditary disorder of connective tissue intersection_of: EFO:0000222 ! acute myeloid leukemia intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/snomedct/764940002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203946 property_value: exactMatch Orphanet:319465 property_value: excluded_subClassOf MONDO:0011118 [Term] id: MONDO:0017894 name: acute myeloid leukemia with CEBPA somatic mutations def: "Acute myeloid leukemia with CEBPA somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly)." [Orphanet:319480] subset: ordo_disease {source="Orphanet:319480"} synonym: "acute myeloid Leukaemia with mutated CEBPA" EXACT OMO:0003005 [] synonym: "acute myeloid Leukaemia with non-germline mutated CEBPA" EXACT OMO:0003005 [] synonym: "acute myeloid Leukemia with mutated CEBPA" EXACT [NCIT:C82433] synonym: "acute myeloid Leukemia with non-germline mutated CEBPA" EXACT [NCIT:C82433] synonym: "AML with CEBPA somatic mutations" EXACT [Orphanet:319480] synonym: "AML with mutated CEBPA" EXACT [NCIT:C82433] synonym: "non-familial acute myeloid leukaemia with mutated CEBPA" EXACT OMO:0003005 [] synonym: "non-familial acute myeloid leukemia with mutated CEBPA" EXACT [NCIT:C82433] xref: DOID:0081095 {source="MONDO:equivalentTo"} xref: NCIT:C82433 {source="MONDO:equivalentTo"} xref: Orphanet:319480 {source="MONDO:equivalentTo"} xref: SCTID:764855007 {source="MONDO:equivalentTo"} xref: UMLS:C2826178 {source="MONDO:equivalentTo"} is_a: EFO:0000222 {source="NCIT:C82430", source="NCIT:C82433/inferred"} ! acute myeloid leukemia property_value: exactMatch DOID:0081095 property_value: exactMatch http://identifiers.org/snomedct/764855007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2826178 property_value: exactMatch NCIT:C82433 property_value: exactMatch Orphanet:319480 [Term] id: MONDO:0017895 name: familial papillary or follicular thyroid carcinoma def: "A papillary or follicular thyroid gland carcinoma with a genetic component that develops within the same family. Current studies suggest that it is inherited in an autosomal dominant pattern. It is often multifocal and bilateral and usually affects younger patients." [NCIT:C118829] subset: ordo_disease {source="Orphanet:319487"} synonym: "familial nonmedullary thyroid gland carcinoma" EXACT [NCIT:C118829] synonym: "familial pure nonmedullary thyroid carcinoma" EXACT [Orphanet:319487] synonym: "FNMTC" EXACT ABBREVIATION [NCIT:C118829, Orphanet:319487] xref: NCIT:C118829 {source="MONDO:equivalentTo"} xref: Orphanet:319487 {source="MONDO:equivalentTo"} xref: UMLS:C3896673 {source="MONDO:equivalentTo", source="NCIT:C118829"} xref: UMLS:CN227215 {source="MONDO:equivalentTo"} is_a: EFO:1002017 {source="NCIT:C118829"} ! differentiated thyroid carcinoma is_a: MONDO:0017896 {source="Orphanet:319487"} ! familial nonmedullary thyroid carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3896673 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227215 property_value: exactMatch NCIT:C118829 property_value: exactMatch Orphanet:319487 [Term] id: MONDO:0017896 name: familial nonmedullary thyroid carcinoma def: "Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting." [Orphanet:319494] comment: Note the OMIM phenotypic series lacks a member classified by ORDO subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:319494"} synonym: "thyroid cancer, nonmedullary" EXACT [MONDO:0000201] xref: OMIMPS:188550 {source="MONDO:equivalentTo"} xref: Orphanet:319494 {source="MONDO:equivalentTo"} xref: UMLS:C3501843 {source="MONDO:equivalentTo"} xref: UMLS:CN227216 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0002892 {source="Orphanet:319494"} ! thyroid carcinoma relationship: has_characteristic MONDO:0021136 {source="MONDO:0019041"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3501843 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227216 property_value: exactMatch https://omim.org/phenotypicSeries/PS188550 property_value: exactMatch Orphanet:319494 [Term] id: MONDO:0017900 name: autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency def: "Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM)." [Orphanet:319547] subset: ordo_disease {source="Orphanet:319547"} subset: predisposition synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IFNGR2" EXACT [] synonym: "IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency" EXACT [Orphanet:319547] synonym: "MSMD due to complete IFNgammaR2 deficiency" EXACT [Orphanet:319547] synonym: "MSMD due to complete interferon gamma receptor 2 deficiency" EXACT [Orphanet:319547] xref: Orphanet:319547 {source="MONDO:equivalentTo"} xref: UMLS:CN203956 {source="MONDO:equivalentTo"} is_a: MONDO:0019146 ! inherited susceptibility to mycobacterial diseases property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203956 property_value: exactMatch Orphanet:319547 property_value: excluded_subClassOf MONDO:0013953 {source="Orphanet:319547/ntbt"} [Term] id: MONDO:0017901 name: autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency def: "A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM)." [https://orcid.org/0000-0001-5208-3432, Orphanet:319569] subset: ordo_disease {source="Orphanet:319569"} subset: predisposition synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1" EXACT [] synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency" EXACT [Orphanet:319569] synonym: "autosomal recessive MSMD due to partial IFNgammaR1 deficiency" EXACT [Orphanet:319569] synonym: "autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency" EXACT [Orphanet:319569] synonym: "IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency" EXACT [MONDO:patterns/disease_series_by_gene] xref: Orphanet:319569 {source="MONDO:equivalentTo"} xref: UMLS:CN203960 {source="MONDO:equivalentTo"} is_a: MONDO:0015979 ! hereditary predisposition to infections relationship: predisposes_towards MONDO:0020590 {source="OMIM:209950"} ! mycobacterial infectious disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203960 property_value: exactMatch Orphanet:319569 property_value: excluded_subClassOf MONDO:0008856 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4882 xsd:anyURI [Term] id: MONDO:0017902 name: autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency def: "A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM)." [https://orcid.org/0000-0001-5208-3432, Orphanet:319574] subset: ordo_disease {source="Orphanet:319574"} subset: predisposition synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2" EXACT [] synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency" EXACT [Orphanet:319574] synonym: "autosomal recessive MSMD due to partial IFNgammaR2 deficiency" EXACT [Orphanet:319574] synonym: "autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency" EXACT [Orphanet:319574] synonym: "IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency" EXACT [MONDO:patterns/disease_series_by_gene] xref: Orphanet:319574 {source="MONDO:equivalentTo"} xref: UMLS:CN203961 {source="MONDO:equivalentTo"} is_a: MONDO:0015979 ! hereditary predisposition to infections relationship: predisposes_towards MONDO:0020590 {source="OMIM:614889"} ! mycobacterial infectious disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203961 property_value: exactMatch Orphanet:319574 property_value: excluded_subClassOf MONDO:0013953 {source="Orphanet:319547/ntbt"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4882 xsd:anyURI [Term] id: MONDO:0017903 name: autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency def: "A genetic variant of mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM)." [https://orcid.org/0000-0001-5208-3432, Orphanet:319589] subset: ordo_disease {source="Orphanet:319589"} subset: predisposition synonym: "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2" EXACT [] synonym: "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency" EXACT [Orphanet:319589] synonym: "autosomal dominant MSMD due to partial IFNgammaR2 deficiency" EXACT [Orphanet:319589] synonym: "autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency" EXACT [Orphanet:319589] synonym: "IFNGR2 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency" EXACT [MONDO:patterns/disease_series_by_gene] xref: Orphanet:319589 {source="MONDO:equivalentTo"} xref: UMLS:CN203963 {source="MONDO:equivalentTo"} is_a: MONDO:0019146 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited susceptibility to mycobacterial diseases property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203963 property_value: exactMatch Orphanet:319589 [Term] id: MONDO:0017904 name: steroid dehydrogenase deficiency-dental anomalies syndrome def: "Steroid dehydrogenase deficiency-dental anomalies syndrome is an autosomal recessive liver disease which was associated with numerical dental aberrations in a consanguineous Arabi Saudi family. This association suggests that the same gene is involved in both defects. General hypomineralisation and enamel hypoplasia found in this family is thought to be secondary to malabsorption due to liver disease." [Orphanet:3196] subset: ordo_disease {source="Orphanet:3196"} synonym: "Lyngstadaas syndrome" EXACT [Orphanet:3196] synonym: "severe dental aberrations in familial steroid dehydrogenase deficiency" RELATED [GARD:0005015] synonym: "steroid dehydrogenase deficiency dental anomalies" RELATED [GARD:0005015] xref: MESH:C537490 {source="MONDO:equivalentTo"} xref: Orphanet:3196 {source="MONDO:equivalentTo"} xref: SCTID:723583009 {source="MONDO:equivalentTo"} xref: UMLS:C2931508 {source="MONDO:equivalentTo", source="Orphanet:3196"} is_a: EFO:0000589 {source="Orphanet:3196"} ! metabolic disease is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:3196", source="Orphanet:3196/inferred"} ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115", source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/C537490 property_value: exactMatch http://identifiers.org/snomedct/723583009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931508 property_value: exactMatch Orphanet:3196 [Term] id: MONDO:0017905 name: X-linked Mendelian susceptibility to mycobacterial diseases def: "A rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occuring in males." [https://orcid.org/0000-0001-5208-3432, Orphanet:319605] subset: ordo_disease {source="Orphanet:319605"} subset: predisposition synonym: "mendelian susceptibility to mycobacterial diseases, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "X-linked MSMD" EXACT [Orphanet:319605] xref: Orphanet:319605 {source="MONDO:equivalentTo"} xref: SCTID:719814009 {source="MONDO:equivalentTo"} xref: UMLS:C4304413 {source="MONDO:equivalentTo"} xref: UMLS:CN203967 {source="MONDO:equivalentTo"} is_a: MONDO:0019146 {source="MONDO:Redundant", source="Orphanet:319605"} ! inherited susceptibility to mycobacterial diseases property_value: exactMatch http://identifiers.org/snomedct/719814009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304413 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203967 property_value: exactMatch Orphanet:319605 [Term] id: MONDO:0017906 name: amyloidosis cutis dyschromia def: "Amyloidosis cutis dyschromia is a rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare." [Orphanet:319635] subset: ordo_disease {source="Orphanet:319635"} synonym: "amyloidosis cutis dyschromica" EXACT [Orphanet:319635] xref: DOID:0080932 {source="MONDO:equivalentTo"} xref: ICD10EXP:E85.4+ {source="Orphanet:319635/ntbt", source="Orphanet:319635"} xref: ICD10EXP:L99.0* {source="Orphanet:319635/ntbt", source="Orphanet:319635"} xref: Orphanet:319635 {source="MONDO:equivalentTo"} is_a: MONDO:0015301 {source="Orphanet:319635"} ! primary cutaneous amyloidosis property_value: exactMatch DOID:0080932 property_value: exactMatch Orphanet:319635 [Term] id: MONDO:0017909 name: inherited glutathione synthetase deficiency def: "Glutathione synthetase deficiency is characterized by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms." [Orphanet:32] subset: ordo_disease {source="Orphanet:32"} synonym: "5-oxoprolinuria" EXACT [NCIT:C128193] synonym: "glutathione synthetase deficiency" EXACT [NCIT:C128193] synonym: "GSSD" EXACT ABBREVIATION [NCIT:C128193] synonym: "inborn error of glutathione synthase activity" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn glutathione synthase activity disorder" EXACT [] synonym: "inherited glutathione synthetase deficiency" EXACT [] synonym: "oxoprolinase deficiency" RELATED [GARD:0010047] synonym: "pyroglutamic aciduria" EXACT [NCIT:C128193] synonym: "pyroglutamicaciduria" EXACT [Orphanet:32] synonym: "rare inborn error of glutathione synthase activity" EXACT [MONDO:patterns/inborn_metabolic] xref: DOID:0080699 {source="MONDO:equivalentTo"} xref: MESH:C536835 {source="Orphanet:32", source="MONDO:equivalentTo", source="Orphanet:32/e"} xref: NCIT:C128193 {source="MONDO:equivalentTo"} xref: Orphanet:32 {source="MONDO:equivalentTo"} xref: SCTID:234589002 {source="MONDO:equivalentTo"} xref: UMLS:C0398746 {source="Orphanet:32", source="MONDO:equivalentTo", source="Orphanet:32/e", source="NCIT:C128193"} is_a: MONDO:0024626 ! defective phagocytic cell engulfment is_a: MONDO:0040566 {source="PMID:33340416"} ! inherited glutathione metabolism disease property_value: exactMatch DOID:0080699 property_value: exactMatch http://identifiers.org/mesh/C536835 property_value: exactMatch http://identifiers.org/snomedct/234589002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398746 property_value: exactMatch NCIT:C128193 property_value: exactMatch Orphanet:32 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0017910 name: dehydrated hereditary stomatocytosis def: "Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed." [Orphanet:3202] subset: gard_rare subset: ordo_disease {source="Orphanet:3202"} synonym: "Desiccytosis hereditary" RELATED [GARD:0005623] synonym: "hereditary xerocytosis" EXACT [GARD:0005623, Orphanet:3202] synonym: "xerocytosis hereditary" RELATED [GARD:0005623] xref: DOID:0111575 {source="MONDO:equivalentTo"} xref: Orphanet:3202 {source="GARD:0005623", source="MONDO:equivalentTo"} xref: SCTID:715526002 {source="MONDO:equivalentTo"} is_a: MONDO:0020102 {source="Orphanet:3202"} ! hereditary stomatocytosis property_value: exactMatch DOID:0111575 property_value: exactMatch http://identifiers.org/snomedct/715526002 property_value: exactMatch Orphanet:3202 [Term] id: MONDO:0017911 name: obsolete cleft lip/palate-ectodermal dysplasia syndrome is_obsolete: true replaced_by: MONDO:0009151 [Term] id: MONDO:0017912 name: X-linked pure spastic paraplegia comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:320332"} xref: Orphanet:320332 {source="MONDO:equivalentTo"} is_a: MONDO:0015149 {source="Orphanet:320332"} ! pure hereditary spastic paraplegia property_value: exactMatch Orphanet:320332 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0017913 name: pure or complex hereditary spastic paraplegia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:320335"} synonym: "Pure or complex familial spastic paraplegia" EXACT [Orphanet:320335] synonym: "Pure or complicated familial spastic paraplegia" EXACT [Orphanet:320335] synonym: "Pure or complicated hereditary spastic paraplegia" EXACT [Orphanet:320335] xref: Orphanet:320335 {source="MONDO:equivalentTo"} xref: UMLS:CN227219 {source="MONDO:equivalentTo"} is_a: MONDO:0019064 {source="Orphanet:320335"} ! hereditary spastic paraplegia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227219 property_value: exactMatch Orphanet:320335 [Term] id: MONDO:0017914 name: pure or complex autosomal dominant spastic paraplegia comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:320342"} synonym: "Pure or complicated autosomal dominant spastic paraplegia" EXACT [Orphanet:320342] xref: Orphanet:320342 {source="MONDO:equivalentTo"} is_a: MONDO:0017913 {source="Orphanet:320342"} ! pure or complex hereditary spastic paraplegia property_value: exactMatch Orphanet:320342 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0017915 name: pure or complex autosomal recessive spastic paraplegia comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:320346"} synonym: "Pure or complicated autosomal recessive spastic paraplegia" EXACT [Orphanet:320346] xref: Orphanet:320346 {source="MONDO:equivalentTo"} is_a: MONDO:0017913 {source="Orphanet:320346"} ! pure or complex hereditary spastic paraplegia property_value: exactMatch Orphanet:320346 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0017916 name: pure or complex X-linked spastic paraplegia comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:320350"} synonym: "Pure or complicated X-linked spastic paraplegia" EXACT [Orphanet:320350] xref: Orphanet:320350 {source="MONDO:equivalentTo"} is_a: MONDO:0017913 {source="Orphanet:320350"} ! pure or complex hereditary spastic paraplegia property_value: exactMatch Orphanet:320350 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0017917 name: maternally-inherited spastic paraplegia def: "A rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination." [Orphanet:320360] subset: ordo_disease {source="Orphanet:320360"} synonym: "maternally-inherited SPG" EXACT [Orphanet:320360] synonym: "MT-ATP6-related mitochondrial spastic paraplegia" EXACT [https://orcid.org/0000-0001-6330-7526, Orphanet:320360] xref: Orphanet:320360 {source="MONDO:equivalentTo"} is_a: MONDO:0015150 {source="Orphanet:320360"} ! complex hereditary spastic paraplegia property_value: exactMatch Orphanet:320360 [Term] id: MONDO:0017918 name: white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome def: "White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome is a very rare neurological condition. The few patients described in the medical literature were characterized by brain anomalies; an unusual face with broad nasal root, wide spaced eyes (hypertelorism) and a very small chin (micrognathia); failure to thrive; severe intellectual disability ;and lack of muscle tone (hypotonia). Exams of the brain showed a poor development (hypoplasia) of the pale part of the brain known as white matter, and an absent or abnormal corpus callosum (nerve fibers joining the two hemispheres of the brain). Only a few cases have being described. The cause is unknown but may be related to a disorder of axonal development. The described cases seem to be inherited in an autosomal recessive or X-linked way. Corpus callosum agenesis is one of the more frequent congenital malformations. It can be either asymptomatic or associated with intellectual disability, epilepsy, or psychiatric syndromes. It can be part of several genetic syndromes, such as Aicardi syndrome, Andermann syndrome and Apert syndrome, trisomies 13, 18 ; or result from metabolic causes; drugs (cocaine); or viral infection (influenza). Many patients with corpus callosum anomalies have other brain anomalies, including white matter hypoplasia. There is no information on specific treatment for this condition." [https://rarediseases.info.nih.gov/diseases/5560/white-matter-hypoplasia-corpus-callosum-agenesis-intellectual-disability-syndrome] subset: gard_rare {source="GARD:0005560"} subset: ordo_malformation_syndrome {source="Orphanet:3207"} synonym: "Curatolo Cilio Pessagno syndrome" RELATED [GARD:0005560] synonym: "Curatolo-Cilio-Pessagno syndrome" EXACT [Orphanet:3207] synonym: "familial white matter hypoplasia, agenesis of the corpus callosum, intellectual disability and growth deficiency" RELATED [GARD:0005560] xref: MESH:C536701 {source="MONDO:equivalentTo"} xref: Orphanet:3207 {source="MONDO:equivalentTo"} xref: UMLS:C2931292 {source="MONDO:equivalentTo", source="Orphanet:3207"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: exactMatch http://identifiers.org/mesh/C536701 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931292 property_value: exactMatch Orphanet:3207 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:3207"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5560/white-matter-hypoplasia-corpus-callosum-agenesis-intellectual-disability-syndrome xsd:anyURI {source="GARD:0005560"} [Term] id: MONDO:0017919 name: exstrophy-epispadias complex def: "A spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form. Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus." [Orphanet:322] subset: ordo_malformation_syndrome {source="Orphanet:322"} synonym: "BEEC" NARROW ABBREVIATION [Orphanet:322] synonym: "bladder exstrophy-epispadias-cloacal extrophy complex" NARROW [Orphanet:322] synonym: "EEC" EXACT ABBREVIATION [Orphanet:322] synonym: "OEIS complex" EXACT [https://github.com/monarch-initiative/mondo/issues/3650] synonym: "OEIS syndrome" EXACT [NCIT:C99142] xref: DOID:0080173 {source="MONDO:equivalentTo"} xref: NCIT:C99142 {source="MONDO:equivalentTo"} xref: OMIM:258040 {source="DOID:0080173", source="MONDO:equivalentTo", source="Orphanet:322/btnt", source="Orphanet:322"} xref: Orphanet:322 {source="DOID:0080173", source="MONDO:equivalentTo"} xref: UMLS:C1850321 {source="MONDO:equivalentTo"} is_a: EFO:0003086 {source="MONDO:Redundant", source="Orphanet:322", source="Orphanet:322/inferred"} ! kidney disease is_a: MONDO:0019356 {source="MONDO:cjm", source="Orphanet:322/inferred"} ! urogenital tract malformation property_value: exactMatch DOID:0080173 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850321 property_value: exactMatch https://omim.org/entry/258040 property_value: exactMatch NCIT:C99142 property_value: exactMatch Orphanet:322 property_value: excluded_subClassOf MONDO:0015215 {source="Orphanet:322"} property_value: excluded_subClassOf MONDO:0015934 {source="Orphanet:322"} property_value: excluded_subClassOf MONDO:0019719 {source="MONDO:cjm", source="Orphanet:322/inferred"} property_value: excluded_subClassOf MONDO:0019720 {source="Orphanet:322"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3650 xsd:anyURI [Term] id: MONDO:0017920 name: deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome def: "Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance)." [Orphanet:3224] subset: ordo_malformation_syndrome {source="Orphanet:3224"} synonym: "Pfeiffer Kapferer syndrome" RELATED [GARD:0004303] synonym: "Pfeiffer-Kapferer syndrome" EXACT [Orphanet:3224] synonym: "sensorineural deafness, hypospadias, and synostosis of metacarpals and metatarsals 4 and 5" RELATED [GARD:0004303] synonym: "short stature, intellectual disability and multiple dysmorphisms" RELATED [GARD:0004303] synonym: "short stature, mental retardation and multiple dysmorphisms" RELATED DEPRECATED [GARD:0004303] xref: MESH:C537887 {source="MONDO:equivalentTo"} xref: Orphanet:3224 {source="MONDO:equivalentTo"} xref: SCTID:721086004 {source="MONDO:equivalentTo"} xref: UMLS:C2931654 {source="Orphanet:3224", source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:3224"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015620 {source="Orphanet:3224"} ! syndromic urogenital tract malformation property_value: exactMatch http://identifiers.org/mesh/C537887 property_value: exactMatch http://identifiers.org/snomedct/721086004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931654 property_value: exactMatch Orphanet:3224 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3224"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0017921 name: hearing loss-familial salivary gland insensitivity to aldosterone syndrome def: "Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterized by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive." [Orphanet:3225] subset: ordo_malformation_syndrome {source="Orphanet:3225"} synonym: "hearing loss and familial salivary gland insensitivity to aldosterone" RELATED [GARD:0000422] synonym: "hearing loss insensitivity to aldosterone" RELATED [GARD:0000422] synonym: "Tungland-Bellman syndrome" EXACT [Orphanet:3225] synonym: "Tunglang savage Bellman syndrome" RELATED [GARD:0000422] xref: MESH:C536927 {source="MONDO:equivalentTo"} xref: Orphanet:3225 {source="MONDO:equivalentTo"} xref: SCTID:716239006 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: exactMatch http://identifiers.org/mesh/C536927 property_value: exactMatch http://identifiers.org/snomedct/716239006 property_value: exactMatch Orphanet:3225 [Term] id: MONDO:0017922 name: deafness-onychodystrophy syndrome def: "Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies." [Orphanet:3231] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:3231"} xref: Orphanet:3231 {source="MONDO:equivalentTo"} xref: UMLS:CN204041 {source="MONDO:equivalentTo"} is_a: MONDO:0019287 {source="Orphanet:3231"} ! ectodermal dysplasia syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204041 property_value: exactMatch Orphanet:3231 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:3231"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0017923 name: multiple synostoses syndrome def: "Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints." [Orphanet:3237] subset: ordo_malformation_syndrome {source="Orphanet:3237"} synonym: "deafness-Hermann type symphalangism syndrome" EXACT [Orphanet:3237] synonym: "facio-audio-symphalangism" EXACT [Orphanet:3237] synonym: "symphalangism-brachydactyly syndrome" EXACT [Orphanet:3237] synonym: "WL syndrome" EXACT [Orphanet:3237] xref: DOID:0050794 {source="MONDO:equivalentTo"} xref: OMIMPS:186500 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:3237 {source="MONDO:equivalentTo"} xref: UMLS:C0175700 {source="MONDO:relatedTo", source="Orphanet:3237", source="Orphanet:3237/e"} xref: UMLS:CN204052 {source="MONDO:equivalentTo"} is_a: MONDO:0018454 ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation property_value: exactMatch DOID:0050794 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204052 property_value: exactMatch https://omim.org/phenotypicSeries/PS186500 property_value: exactMatch Orphanet:3237 [Term] id: MONDO:0017924 name: central nervous system calcification-deafness-tubular acidosis-anemia syndrome def: "This syndrome is characterized by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family." [Orphanet:3240] subset: ordo_disease {source="Orphanet:3240"} synonym: "Yoshimura-Takeshita syndrome" EXACT [Orphanet:3240] xref: Orphanet:3240 {source="MONDO:equivalentTo"} xref: UMLS:CN204056 {source="MONDO:equivalentTo"} is_a: MONDO:0017828 {source="Orphanet:3240"} ! primary renal tubular acidosis property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204056 property_value: exactMatch Orphanet:3240 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:3240"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0017925 name: T-cell immunodeficiency with epidermodysplasia verruciformis def: "T-cell immunodeficiency with epidermodysplasia verruciformis is a rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype." [Orphanet:324294] subset: ordo_disease {source="Orphanet:324294"} synonym: "T-cell immunodeficiency due to RHOH deficiency" EXACT [Orphanet:324294] xref: Orphanet:324294 {source="MONDO:equivalentTo"} xref: UMLS:CN714013 {source="MONDO:equivalentTo"} is_a: MONDO:0015135 {source="MONDO:0018033-obsoleted"} ! primary immunodeficiency due to a genetic defect in innate immunity property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN714013 property_value: exactMatch Orphanet:324294 [Term] id: MONDO:0017927 name: severe lateral tibial bowing with short stature def: "Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities." [Orphanet:324307] subset: ordo_disease {source="Orphanet:324307"} xref: Orphanet:324307 {source="MONDO:equivalentTo"} xref: SCTID:766819001 {source="MONDO:equivalentTo"} xref: UMLS:CN204066 {source="MONDO:equivalentTo"} is_a: MONDO:0019698 {source="Orphanet:324307"} ! bent bone dysplasia property_value: exactMatch http://identifiers.org/snomedct/766819001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204066 property_value: exactMatch Orphanet:324307 [Term] id: MONDO:0017928 name: 9p13 microdeletion syndrome def: "9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia)." [Orphanet:324313] subset: ordo_malformation_syndrome {source="Orphanet:324313"} synonym: "Del(9)(p13)" EXACT [Orphanet:324313] synonym: "monosomy 9p13" EXACT [Orphanet:324313] xref: Orphanet:324313 {source="MONDO:equivalentTo"} xref: SCTID:764725008 {source="MONDO:equivalentTo"} xref: UMLS:CN204067 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:324313"} ! syndromic intellectual disability is_a: MONDO:0008013 {source="Orphanet:324313"} ! chromosome 9p deletion syndrome property_value: exactMatch http://identifiers.org/snomedct/764725008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204067 property_value: exactMatch Orphanet:324313 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0017929 name: congenital achiasma def: "Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy." [Orphanet:324353] subset: ordo_morphological_anomaly {source="Orphanet:324353"} xref: ICD10CM:H47.4 {source="MONDO:relatedTo", source="Orphanet:324353/attributed", source="Orphanet:324353/ntbt", source="Orphanet:324353"} xref: Orphanet:324353 {source="MONDO:equivalentTo"} xref: SCTID:734031008 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0020132 {source="Orphanet:324353"} ! cranial nerve and nuclear aplasia property_value: exactMatch http://identifiers.org/snomedct/734031008 property_value: exactMatch Orphanet:324353 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0017930 name: mixed sclerosing bone dystrophy with extra-skeletal manifestations subset: ordo_disease {source="Orphanet:324364"} xref: Orphanet:324364 {source="MONDO:equivalentTo"} is_a: EFO:0004260 {source="Orphanet:324364"} ! bone disease property_value: exactMatch Orphanet:324364 property_value: excluded_subClassOf MONDO:0019703 {source="Orphanet:324364"} [Term] id: MONDO:0017931 name: hereditary inclusion body myopathy type 4 def: "Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy." [Orphanet:324381] subset: ordo_disease {source="Orphanet:324381"} synonym: "HIBM4" EXACT ABBREVIATION [Orphanet:324381] xref: Orphanet:324381 {source="MONDO:equivalentTo"} xref: UMLS:CN227223 {source="MONDO:equivalentTo"} is_a: MONDO:0016112 {source="Orphanet:324381"} ! hereditary inclusion-body myopathy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227223 property_value: exactMatch Orphanet:324381 [Term] id: MONDO:0017932 name: muscular hypertrophy-hepatomegaly-polyhydramnios syndrome subset: ordo_malformation_syndrome {source="Orphanet:324416"} xref: Orphanet:324416 {source="MONDO:equivalentTo"} xref: UMLS:CN204070 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:324416"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204070 property_value: exactMatch Orphanet:324416 [Term] id: MONDO:0017933 name: hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation def: "Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure." [Orphanet:324525] subset: ordo_disease {source="Orphanet:324525"} synonym: "hypertrophic cardiomyopathy and renal tubular disease due to mtDNA mutation" EXACT [Orphanet:324525] xref: Orphanet:324525 {source="MONDO:equivalentTo"} xref: UMLS:CN204073 {source="MONDO:equivalentTo"} is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0017828 {source="Orphanet:324525"} ! primary renal tubular acidosis property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204073 property_value: exactMatch Orphanet:324525 [Term] id: MONDO:0017934 name: aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome def: "Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated." [Orphanet:324540] subset: ordo_malformation_syndrome {source="Orphanet:324540"} synonym: "aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome" EXACT [Orphanet:324540] synonym: "aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome" EXACT [Orphanet:324540] xref: Orphanet:324540 {source="MONDO:equivalentTo"} xref: UMLS:CN204076 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:324540"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204076 property_value: exactMatch Orphanet:324540 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:324540"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0017935 name: hyperinsulinism due to HNF1A deficiency def: "Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1) later in life." [Orphanet:324575] subset: ordo_disease {source="Orphanet:324575"} synonym: "hyperinsulinemic hypoglycemia due to HNF1A deficiency" EXACT [Orphanet:324575] xref: Orphanet:324575 {source="MONDO:equivalentTo"} xref: SCTID:721234004 {source="MONDO:equivalentTo"} xref: UMLS:C4303475 {source="MONDO:equivalentTo"} is_a: MONDO:0015624 {source="Orphanet:324575"} ! diazoxide-sensitive diffuse hyperinsulinism property_value: exactMatch http://identifiers.org/snomedct/721234004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303475 property_value: exactMatch Orphanet:324575 [Term] id: MONDO:0017936 name: benign Samaritan congenital myopathy def: "Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood." [Orphanet:324581] subset: ordo_disease {source="Orphanet:324581"} xref: Orphanet:324581 {source="MONDO:equivalentTo"} is_a: MONDO:0019952 {source="Orphanet:324581"} ! congenital myopathy property_value: exactMatch Orphanet:324581 [Term] id: MONDO:0017937 name: autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain subset: ordo_disease {source="Orphanet:324585"} xref: Orphanet:324585 {source="MONDO:equivalentTo"} xref: UMLS:CN204081 {source="MONDO:equivalentTo"} is_a: MONDO:0019548 {source="Orphanet:324585", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant intermediate Charcot-Marie-Tooth disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204081 property_value: exactMatch Orphanet:324585 [Term] id: MONDO:0017939 name: minicore myopathy subset: ordo_clinical_subtype {source="Orphanet:324604"} synonym: "classic MmD" BROAD [Orphanet:324604] synonym: "classic multiminicore disease" BROAD [Orphanet:324604] synonym: "classic multiminicore myopathy" EXACT [Orphanet:324604] xref: Orphanet:324604 {source="MONDO:equivalentTo"} xref: UMLS:CN204085 {source="MONDO:equivalentTo"} is_a: MONDO:0018948 {source="Orphanet:324604"} ! multiminicore myopathy is_a: MONDO:0100493 {source="https://clinicalgenome.org/affiliation/40031/"} ! autosomal recessive titinopathy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204085 property_value: exactMatch Orphanet:324604 [Term] id: MONDO:0017940 name: autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation def: "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms." [Orphanet:324611] subset: ordo_disease {source="Orphanet:324611"} synonym: "CMT2 due to KIF5A mutation" EXACT [Orphanet:324611] xref: Orphanet:324611 {source="MONDO:equivalentTo"} xref: SCTID:764730007 {source="MONDO:equivalentTo"} xref: UMLS:CN204086 {source="MONDO:equivalentTo"} is_a: MONDO:0018993 {source="Orphanet:324611"} ! Charcot-Marie-Tooth disease type 2 property_value: exactMatch http://identifiers.org/snomedct/764730007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204086 property_value: exactMatch Orphanet:324611 [Term] id: MONDO:0017945 name: ABetaL34V amyloidosis def: "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline." [Orphanet:324703] subset: ordo_clinical_subtype {source="Orphanet:324703"} synonym: "ABeta amyloidosis, Piedmont type" EXACT [Orphanet:324703] synonym: "ABetaL34V-related amyloidosis" EXACT [Orphanet:324703] synonym: "HCHWA, Piedmont type" EXACT [Orphanet:324703] synonym: "hereditary cerebral haemorrhage with amyloidosis, Piedmont type" EXACT OMO:0003005 [] synonym: "hereditary cerebral hemorrhage with amyloidosis, Piedmont type" EXACT [Orphanet:324703] xref: ICD10EXP:E85.4+ {source="Orphanet:324703", source="Orphanet:324703/attributed", source="Orphanet:324703/ntbt"} xref: ICD10EXP:I68.0* {source="Orphanet:324703", source="Orphanet:324703/attributed", source="Orphanet:324703/ntbt"} xref: Orphanet:324703 {source="MONDO:equivalentTo"} is_a: MONDO:0011583 ! cerebral amyloid angiopathy, APP-related property_value: exactMatch Orphanet:324703 [Term] id: MONDO:0017946 name: ABeta amyloidosis, Iowa type def: "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages." [Orphanet:324708] subset: ordo_clinical_subtype {source="Orphanet:324708"} synonym: "ABetaD23N amyloidosis" EXACT [Orphanet:324708] synonym: "cerebral amyloid angiopathy, APP-related, Iowa variant" EXACT [DOID:0070028, OMIM:605714] synonym: "HCHWA, Iowa type" EXACT [Orphanet:324708] synonym: "hereditary cerebral haemorrhage with amyloidosis, Iowa type" EXACT OMO:0003005 [] synonym: "hereditary cerebral hemorrhage with amyloidosis, Iowa type" EXACT [Orphanet:324708] xref: ICD10EXP:E85.4+ {source="Orphanet:324708/attributed", source="Orphanet:324708/ntbt", source="Orphanet:324708"} xref: ICD10EXP:I68.0* {source="Orphanet:324708/attributed", source="Orphanet:324708/ntbt", source="Orphanet:324708"} xref: Orphanet:324708 {source="MONDO:equivalentTo"} is_a: MONDO:0011583 ! cerebral amyloid angiopathy, APP-related property_value: exactMatch Orphanet:324708 [Term] id: MONDO:0017947 name: ABeta amyloidosis, Italian type def: "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage." [Orphanet:324713] subset: ordo_clinical_subtype {source="Orphanet:324713"} synonym: "ABetaE22K amyloidosis" EXACT [Orphanet:324713] synonym: "cerebral amyloid angiopathy, APP-related, Italian variant" EXACT [DOID:0070028, OMIM:605714] synonym: "HCHWA, Italian type" EXACT [Orphanet:324713] synonym: "hereditary cerebral haemorrhage with amyloidosis, Italian type" EXACT OMO:0003005 [] synonym: "hereditary cerebral hemorrhage with amyloidosis, Italian type" EXACT [Orphanet:324713] xref: ICD10EXP:E85.4+ {source="Orphanet:324713", source="Orphanet:324713/attributed", source="Orphanet:324713/ntbt"} xref: ICD10EXP:I68.0* {source="Orphanet:324713", source="Orphanet:324713/attributed", source="Orphanet:324713/ntbt"} xref: Orphanet:324713 {source="MONDO:equivalentTo"} is_a: MONDO:0011583 ! cerebral amyloid angiopathy, APP-related property_value: exactMatch Orphanet:324713 [Term] id: MONDO:0017948 name: ABetaA21G amyloidosis def: "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients." [Orphanet:324718] subset: ordo_clinical_subtype {source="Orphanet:324718"} synonym: "ABeta amyloidosis, Flemish type" EXACT [Orphanet:324718] synonym: "ABetaA21G-related amyloidosis" EXACT [Orphanet:324718] synonym: "cerebral amyloid angiopathy, APP-related, Flemish variant" EXACT [DOID:0070028] synonym: "HCHWA, Flemish type" EXACT [Orphanet:324718] synonym: "hereditary cerebral haemorrhage with amyloidosis, Flemish type" EXACT OMO:0003005 [] synonym: "hereditary cerebral hemorrhage with amyloidosis, Flemish type" EXACT [Orphanet:324718] xref: ICD10EXP:E85.4+ {source="Orphanet:324718", source="Orphanet:324718/attributed", source="Orphanet:324718/ntbt"} xref: ICD10EXP:I68.0* {source="Orphanet:324718", source="Orphanet:324718/attributed", source="Orphanet:324718/ntbt"} xref: Orphanet:324718 {source="MONDO:equivalentTo"} is_a: MONDO:0011583 ! cerebral amyloid angiopathy, APP-related property_value: exactMatch Orphanet:324718 [Term] id: MONDO:0017949 name: ABeta amyloidosis, Arctic type def: "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages." [Orphanet:324723] subset: ordo_clinical_subtype {source="Orphanet:324723"} synonym: "ABetaE22G amyloidosis" EXACT [Orphanet:324723] synonym: "cerebral amyloid angiopathy, APP-related, Arctic variant" EXACT [DOID:0070028] synonym: "HCHWA, Arctic type" EXACT [Orphanet:324723] synonym: "hereditary cerebral haemorrhage with amyloidosis, Arctic type" EXACT OMO:0003005 [] synonym: "hereditary cerebral hemorrhage with amyloidosis, Arctic type" EXACT [Orphanet:324723] xref: ICD10EXP:E85.4+ {source="Orphanet:324723/attributed", source="Orphanet:324723/ntbt", source="Orphanet:324723"} xref: ICD10EXP:I68.0* {source="Orphanet:324723/attributed", source="Orphanet:324723/ntbt", source="Orphanet:324723"} xref: Orphanet:324723 {source="MONDO:equivalentTo"} is_a: MONDO:0011583 ! cerebral amyloid angiopathy, APP-related property_value: exactMatch Orphanet:324723 [Term] id: MONDO:0017950 name: microcephalic primordial dwarfism comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:324761"} xref: Orphanet:324761 {source="MONDO:equivalentTo"} xref: UMLS:CN437676 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:324761"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0019699 {source="Orphanet:324761"} ! slender bone dysplasia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN437676 property_value: exactMatch Orphanet:324761 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:324761"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0017951 name: trichorhinophalangeal syndrome subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:324764"} synonym: "TRPS" EXACT ABBREVIATION [MONDO:Lexical] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIMPS:190350 {source="MONDO:equivalentTo"} xref: Orphanet:324764 {source="MONDO:equivalentTo"} xref: SCTID:18077009 {source="MONDO:equivalentTo"} xref: UMLS:C0265255 {source="Orphanet:324764", source="MONDO:equivalentTo"} is_a: MONDO:0019287 {source="Orphanet:324764"} ! ectodermal dysplasia syndrome is_a: MONDO:0019695 {source="Orphanet:324764"} ! acromelic dysplasia property_value: exactMatch http://identifiers.org/snomedct/18077009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265255 property_value: exactMatch https://omim.org/phenotypicSeries/PS190350 property_value: exactMatch Orphanet:324764 [Term] id: MONDO:0017953 name: hereditary periodic fever syndrome def: "An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:324924"} synonym: "hereditary periodic fever syndrome" EXACT [MONDO:patterns/hereditary] xref: MESH:D056660 {source="MONDO:equivalentTo"} xref: Orphanet:324924 {source="MONDO:equivalentTo"} xref: UMLS:CN204099 {source="MONDO:equivalentTo"} is_a: MONDO:0015137 {source="MONDO:Redundant", source="Orphanet:324924"} ! periodic fever syndrome is_a: MONDO:0023603 ! hereditary disorder of connective tissue intersection_of: MONDO:0015137 ! periodic fever syndrome intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/mesh/D056660 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204099 property_value: exactMatch Orphanet:324924 [Term] id: MONDO:0017954 name: pyogenic autoinflammatory syndrome comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:324927"} xref: Orphanet:324927 {source="MONDO:equivalentTo"} xref: UMLS:CN204100 {source="MONDO:equivalentTo"} is_a: MONDO:0019751 {source="Orphanet:324927"} ! autoinflammatory syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204100 property_value: exactMatch Orphanet:324927 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0017955 name: granulomatous autoinflammatory syndrome comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:324930"} xref: Orphanet:324930 {source="MONDO:equivalentTo"} xref: UMLS:CN204101 {source="MONDO:equivalentTo"} is_a: MONDO:0019751 {source="Orphanet:324930"} ! autoinflammatory syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204101 property_value: exactMatch Orphanet:324930 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0017961 name: 46,XX disorder of gonadal development comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:325055"} xref: Orphanet:325055 {source="MONDO:equivalentTo"} xref: UMLS:CN227225 {source="MONDO:equivalentTo"} is_a: MONDO:0017576 {source="Orphanet:325055"} ! 46,XX disorder of sex development relationship: has_characteristic MONDO:0021136 {source="MONDO:0015511", source="MONDO:0015513", source="MONDO:0015960"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227225 property_value: exactMatch Orphanet:325055 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0017962 name: 46,XX disorder of sex development induced by fetoplacental androgens excess comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:325061"} synonym: "46,XX DSD induced by fetoplacental androgens excess" EXACT [Orphanet:325061] xref: Orphanet:325061 {source="MONDO:equivalentTo"} xref: UMLS:CN227226 {source="MONDO:equivalentTo"} is_a: EFO:0009549 {source="MONDO:Redundant", source="Orphanet:325061", source="Orphanet:325061/inferred"} ! female reproductive system disease is_a: MONDO:0020039 {source="Orphanet:325061"} ! 46,XX disorder of sex development induced by androgens excess relationship: has_characteristic MONDO:0021136 {source="MONDO:0015511", source="MONDO:0015513", source="MONDO:0015960", source="MONDO:0015980"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227226 property_value: exactMatch Orphanet:325061 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0017966 name: 46,XY disorder of gonadal development comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:325118"} xref: Orphanet:325118 {source="MONDO:equivalentTo"} xref: UMLS:CN227229 {source="MONDO:equivalentTo"} is_a: MONDO:0020040 {source="Orphanet:325118"} ! 46,XY disorder of sex development relationship: has_characteristic MONDO:0021136 {source="MONDO:0015511", source="MONDO:0015513", source="MONDO:0015960"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227229 property_value: exactMatch Orphanet:325118 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0017967 name: testicular agenesis subset: ordo_morphological_anomaly {source="Orphanet:325124"} synonym: "absence of testes" RELATED [GARD:0005819] synonym: "anorchia" RELATED [GARD:0005819] synonym: "bilateral anorchia" EXACT [Orphanet:325124] synonym: "congenital absence of testes" RELATED [GARD:0005819] synonym: "empty scrotum" RELATED [GARD:0005819] xref: Orphanet:325124 {source="MONDO:equivalentTo"} xref: SCTID:371015003 {source="MONDO:equivalentTo"} is_a: MONDO:0017966 {source="Orphanet:325124"} ! 46,XY disorder of gonadal development property_value: exactMatch http://identifiers.org/snomedct/371015003 property_value: exactMatch Orphanet:325124 [Term] id: MONDO:0017968 name: 46,XY ovotesticular disorder of sex development def: "46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumors are frequently associated." [Orphanet:325345] subset: ordo_disease {source="Orphanet:325345"} synonym: "46,XY ovotesticular DSD" EXACT [Orphanet:325345] xref: Orphanet:325345 {source="MONDO:equivalentTo"} xref: SCTID:763683004 {source="MONDO:equivalentTo"} xref: UMLS:CN227231 {source="MONDO:equivalentTo"} is_a: MONDO:0017966 {source="Orphanet:325345"} ! 46,XY disorder of gonadal development property_value: exactMatch http://identifiers.org/snomedct/763683004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227231 property_value: exactMatch Orphanet:325345 [Term] id: MONDO:0017969 name: 46,XY disorder of sex development of endocrine origin comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:325351"} synonym: "46,XY DSD of endocrine origin" EXACT [Orphanet:325351] xref: Orphanet:325351 {source="MONDO:equivalentTo"} xref: UMLS:CN227232 {source="MONDO:equivalentTo"} is_a: MONDO:0020040 {source="Orphanet:325351"} ! 46,XY disorder of sex development property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227232 property_value: exactMatch Orphanet:325351 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0017972 name: classic congenital lipoid adrenal hyperplasia due to STAR deficency subset: ordo_clinical_subtype {source="Orphanet:325524"} synonym: "classic CLAH" EXACT [Orphanet:325524] xref: Orphanet:325524 {source="MONDO:equivalentTo"} is_a: MONDO:0008725 {source="Orphanet:325524"} ! congenital lipoid adrenal hyperplasia due to STAR deficency relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch Orphanet:325524 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0017973 name: non-classic congenital lipoid adrenal hyperplasia due to STAR deficency subset: ordo_clinical_subtype {source="Orphanet:325529"} xref: Orphanet:325529 {source="MONDO:equivalentTo"} is_a: MONDO:0008725 {source="Orphanet:325529"} ! congenital lipoid adrenal hyperplasia due to STAR deficency relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch Orphanet:325529 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0017975 name: sex chromosome disorder of sex development def: "Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including monosomy; trisomy; and mosaicism." [MESH:D058533] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:325546"} synonym: "Sex chromosome DSD" EXACT [Orphanet:325546] xref: MESH:D058533 {source="MONDO:equivalentTo"} xref: Orphanet:325546 {source="MONDO:equivalentTo"} is_a: MONDO:0002145 {source="MESH:D058533", source="Orphanet:325546"} ! disorder of sexual differentiation relationship: has_characteristic MONDO:0021136 {source="MONDO:0015511", source="MONDO:0015513", source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/mesh/D058533 property_value: exactMatch Orphanet:325546 [Term] id: MONDO:0017977 name: obsolete 46,XY disorder of sex development of gynecological interest comment: These terms are not used clinically. synonym: "46,XY DSD of gynecological interest" EXACT [Orphanet:325632] xref: Orphanet:325632 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227238 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227238 property_value: exactMatch Orphanet:325632 is_obsolete: true consider: MONDO:0001967 consider: MONDO:0002145 [Term] id: MONDO:0017979 name: autoimmune lymphoproliferative syndrome def: "Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma." [Orphanet:3261] subset: ordo_disease {source="Orphanet:3261"} synonym: "ALPS" EXACT ABBREVIATION [Orphanet:3261] synonym: "ALPS (autoimmune lymphoproliferative syndrome)" EXACT [DOID:6688] synonym: "autoimmune lymphoproliferative syndrome type 1, autosomal dominant" RELATED [GARD:0008686] synonym: "Canale-Smith syndrome" EXACT [DOID:6688, Orphanet:3261] synonym: "FAS deficiency" EXACT [Orphanet:3261] xref: CSP:1560-5548 {source="DOID:6688"} xref: DOID:6688 {source="MONDO:equivalentTo"} xref: ICD9:279.41 {source="DOID:6688"} xref: MedDRA:10069521 {source="Orphanet:3261/e", source="Orphanet:3261"} xref: MESH:D056735 {source="DOID:6688", source="Orphanet:3261/e", source="MONDO:equivalentTo", source="Orphanet:3261"} xref: NCIT:C37864 {source="DOID:6688", source="MONDO:equivalentTo"} xref: Orphanet:3261 {source="DOID:6688", source="MONDO:equivalentTo"} xref: UMLS:C1328840 {source="DOID:6688", source="Orphanet:3261/e", source="MONDO:equivalentTo", source="NCIT:C37864", source="Orphanet:3261"} is_a: EFO:0005809 ! type II hypersensitivity reaction disease is_a: MONDO:0002459 {source="DOID:6688"} ! type IV hypersensitivity disease is_a: MONDO:0015823 ! primary immunodeficiency due to a defect in adaptive immunity is_a: MONDO:0016537 {source="MESH:D056735", source="MONDO:Redundant", source="Orphanet:3261"} ! lymphoproliferative syndrome is_a: MONDO:0021058 {source="MONDO:Redundant", source="NCIT:C37864"} ! neoplastic syndrome property_value: closeMatch http://identifiers.org/meddra/10069521 property_value: exactMatch DOID:6688 property_value: exactMatch http://identifiers.org/mesh/D056735 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1328840 property_value: exactMatch NCIT:C37864 property_value: exactMatch Orphanet:3261 property_value: excluded_subClassOf MONDO:0015757 {source="Orphanet:3261"} [Term] id: MONDO:0017980 name: syngnathia multiple anomalies subset: gard_rare {source="GARD:0005092"} subset: ordo_malformation_syndrome {source="Orphanet:3262"} synonym: "dobrow syndrome" EXACT [MONDO:0023000] synonym: "syngnathia-multiple anomalies syndrome" EXACT [Orphanet:3262] xref: Orphanet:3262 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease is_a: MONDO:0018454 {source="MONDO:0019710-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin property_value: exactMatch Orphanet:3262 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4453 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1895/dobrow-syndrome xsd:anyURI {source="GARD:0001895"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5092/syngnathia-multiple-anomalies xsd:anyURI {source="GARD:0005092"} [Term] id: MONDO:0017981 name: syngnathia-cleft palate syndrome subset: ordo_malformation_syndrome {source="Orphanet:3263"} synonym: "syngnathia cleft palate" RELATED [GARD:0005091] xref: Orphanet:3263 {source="MONDO:equivalentTo"} xref: UMLS:CN204137 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204137 property_value: exactMatch Orphanet:3263 [Term] id: MONDO:0017983 name: humero-radio-ulnar synostosis def: "Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated." [Orphanet:3266] subset: ordo_morphological_anomaly {source="Orphanet:3266"} synonym: "humero-radio-ulnar fusion" EXACT [Orphanet:3266] xref: Orphanet:3266 {source="MONDO:equivalentTo"} is_a: MONDO:0017429 {source="Orphanet:3266"} ! joint formation defects property_value: exactMatch Orphanet:3266 [Term] id: MONDO:0017984 name: obsolete familial lambdoid synostosis def: "OBSOLETE. Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure." [Orphanet:3267] xref: Orphanet:3267 {source="MONDO:obsoleteEquivalentObsolete"} xref: SCTID:766884000 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN204142 {source="MONDO:obsoleteEquivalentObsolete"} property_value: exactMatch http://identifiers.org/snomedct/766884000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204142 property_value: exactMatch Orphanet:3267 property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeObsoleteSource"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5782 xsd:anyURI is_obsolete: true consider: MONDO:0010929 [Term] id: MONDO:0017985 name: congenital radioulnar synostosis def: "Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living." [Orphanet:3269] subset: gard_rare subset: ordo_morphological_anomaly {source="Orphanet:3269"} synonym: "proximal, smooth fusion of 2-6 CM between the radius and ulna and absent head of the radius" RELATED [GARD:0004630] synonym: "radial-ulnar synostosis" RELATED [GARD:0010876] synonym: "radio-ulnar synostosis" RELATED [GARD:0010876] synonym: "radio-ulnar synostosis type 1" RELATED [GARD:0004630] synonym: "radioulnar fusion" EXACT [Orphanet:3269] synonym: "radioulnar synostosis" EXACT [MONDO:ambiguous] synonym: "radioulnar synostosis (disease)" EXACT [MONDO:0008360] xref: DOID:9827 {source="MONDO:equivalentTo"} xref: HP:0002974 {source="MONDO:otherHierarchy"} xref: ICD9:755.53 {source="DOID:9827", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:C562408 {source="DOID:9827", source="MONDO:equivalentTo"} xref: Orphanet:3269 {source="MONDO:equivalentTo", source="OMIM:179300"} xref: SCTID:33313004 {source="DOID:9827", source="MONDO:equivalentTo"} is_a: MONDO:0017429 {source="Orphanet:3269"} ! joint formation defects relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch DOID:9827 property_value: exactMatch http://identifiers.org/mesh/C562408 property_value: exactMatch http://identifiers.org/snomedct/33313004 property_value: exactMatch Orphanet:3269 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0017986 name: disorder of plasmalogens biosynthesis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:3276"} synonym: "disorder of plasmalogens biosynthesis" EXACT [https://www.clinicalgenome.org/affiliation/40049/] xref: Orphanet:3276 {source="MONDO:equivalentTo"} xref: UMLS:CN237437 {source="MONDO:equivalentTo"} is_a: MONDO:0002525 ! inherited lipid metabolism disorder is_a: MONDO:0100257 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisomal single enzyme/protein defect property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237437 property_value: exactMatch Orphanet:3276 [Term] id: MONDO:0017987 name: syringomyelia def: "Syringomyelia is characterized by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord, either as a result of a known cause (secondary syringomyelia, SS) or, more rarely, due to an unknown cause (primary syringomyelia, PS)." [Orphanet:3280] subset: disease_grouping subset: gard_rare {source="GARD:0007725"} subset: ordo_group_of_disorders {source="Orphanet:3280"} synonym: "hydromyelia" RELATED [Orphanet:3280] xref: DOID:327 {source="MONDO:equivalentTo"} xref: MedDRA:10042928 {source="Orphanet:3280", source="Orphanet:3280/e"} xref: MESH:D013595 {source="DOID:327", source="MONDO:equivalentTo", source="Orphanet:3280", source="Orphanet:3280/e"} xref: NCIT:C85179 {source="DOID:327", source="MONDO:equivalentTo"} xref: Orphanet:3280 {source="MONDO:equivalentTo"} xref: SCTID:111496009 {source="DOID:327", source="MONDO:equivalentTo"} xref: UMLS:C0039144 {source="DOID:327", source="MONDO:equivalentTo", source="Orphanet:3280", source="NCIT:C85179", source="Orphanet:3280/e"} is_a: EFO:0009488 {source="DOID:327", source="MESH:D013595", source="NCIT:C85179"} ! spinal cord disease property_value: closeMatch http://identifiers.org/meddra/10042928 property_value: exactMatch DOID:327 property_value: exactMatch http://identifiers.org/mesh/D013595 property_value: exactMatch http://identifiers.org/snomedct/111496009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039144 property_value: exactMatch NCIT:C85179 property_value: exactMatch Orphanet:3280 property_value: excluded_subClassOf MONDO:0015141 {source="Orphanet:3280"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7725/syringomyelia xsd:anyURI {source="GARD:0007725"} [Term] id: MONDO:0017989 name: His bundle tachycardia def: "His bundle tachycardia is a very rare congenital genetic tachyarrhythmia characterized by incessant tachycardia and high morbidity and mortality." [Orphanet:3283] subset: gard_rare {source="GARD:0002706"} subset: ordo_disease {source="Orphanet:3283"} synonym: "JET" EXACT ABBREVIATION [Orphanet:3283] synonym: "junctional ectopic tachycardia" EXACT [Orphanet:3283] xref: ICD9:427.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D013613 {source="MONDO:equivalentTo"} xref: NCIT:C111646 {source="MONDO:equivalentTo"} xref: Orphanet:3283 {source="MONDO:equivalentTo"} xref: SCTID:233901002 {source="MONDO:equivalentTo"} xref: UMLS:C0039235 {source="MONDO:equivalentTo", source="Orphanet:3283", source="NCIT:C111646"} is_a: MONDO:0007263 {source="https://orcid.org/0000-0001-5208-3432"} ! cardiac rhythm disease property_value: exactMatch http://identifiers.org/mesh/D013613 property_value: exactMatch http://identifiers.org/snomedct/233901002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039235 property_value: exactMatch NCIT:C111646 property_value: exactMatch Orphanet:3283 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2706/his-bundle-tachycardia xsd:anyURI {source="GARD:0002706"} [Term] id: MONDO:0017990 name: catecholaminergic polymorphic ventricular tachycardia def: "Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death." [Orphanet:3286] subset: clingen subset: gard_rare subset: ordo_disease {source="Orphanet:3286"} synonym: "bidirectional tachycardia induced by catecholamine" EXACT [Orphanet:3286] synonym: "catecholamine-induced polymorphic ventricular tachycardia" RELATED [GARD:0004421] synonym: "catecholaminergic polymorphic ventricular tachycardia" EXACT [] synonym: "CPVT" EXACT ABBREVIATION [GARD:0004421, Orphanet:3286] synonym: "double tachycardia induced by catecholamines" EXACT [Orphanet:3286] synonym: "familial polymorphic ventricular tachycardia" RELATED [GARD:0004421] synonym: "malignant paroxysmal ventricular tachycardia" EXACT [Orphanet:3286] synonym: "multifocal ventricular premature beats" EXACT [GARD:0004421, Orphanet:3286] synonym: "polymorphic catecholergic ventricular tachycardia" RELATED [GARD:0004421] synonym: "stress-induced polymorphic ventricular tachycardia" RELATED [GARD:0004421] synonym: "syncopal paroxysmal tachycardia" RELATED [GARD:0004421] synonym: "ventricular tachycardia, catecholaminergic polymorphic" EXACT [OMIMPS:604772] xref: DOID:0060674 {source="MONDO:equivalentTo"} xref: ICD10CM:I47.2 {source="MONDO:relatedTo", source="DOID:0060674", source="Orphanet:3286/attributed", source="Orphanet:3286/ntbt", source="Orphanet:3286"} xref: MESH:C536334 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: OMIMPS:604772 {source="DOID:0060674", source="MONDO:equivalentTo"} xref: Orphanet:3286 {source="GARD:0004421", source="DOID:0060674", source="MONDO:equivalentTo"} xref: SCTID:419671004 {source="MONDO:equivalentTo"} xref: UMLS:C1631597 {source="MONDO:equivalentTo", source="Orphanet:3286"} is_a: MONDO:0000992 {source="DOID:0060674"} ! heart conduction disease is_a: MONDO:0008648 ! ventricular tachycardia, familial is_a: MONDO:0020575 {source="https://orcid.org/0000-0001-5208-3432"} ! polymorphic ventricular tachycardia property_value: exactMatch DOID:0060674 property_value: exactMatch http://identifiers.org/mesh/C536334 property_value: exactMatch http://identifiers.org/snomedct/419671004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1631597 property_value: exactMatch https://omim.org/phenotypicSeries/PS604772 property_value: exactMatch Orphanet:3286 [Term] id: MONDO:0017992 name: autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis subset: ordo_disease {source="Orphanet:329173"} xref: Orphanet:329173 {source="MONDO:equivalentTo"} xref: UMLS:CN237438 {source="MONDO:equivalentTo"} is_a: MONDO:0002412 {source="PMID:33340416"} ! disorder of glycogen metabolism is_a: MONDO:0015135 ! primary immunodeficiency due to a genetic defect in innate immunity is_a: MONDO:0015823 ! primary immunodeficiency due to a defect in adaptive immunity is_a: MONDO:0019751 {source="MONDO:cjm", source="Orphanet:329173/inferred"} ! autoinflammatory syndrome is_a: MONDO:0023603 ! hereditary disorder of connective tissue property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237438 property_value: exactMatch Orphanet:329173 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0017994 name: severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency subset: ordo_disease {source="Orphanet:329249"} xref: Orphanet:329249 {source="MONDO:equivalentTo"} xref: UMLS:CN204200 {source="MONDO:equivalentTo"} is_a: MONDO:0020075 {source="Orphanet:329249"} ! hereditary non-syndromic obesity property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204200 property_value: exactMatch Orphanet:329249 [Term] id: MONDO:0017995 name: spondylocostal dysostosis-hypospadias-intellectual disability syndrome subset: ordo_disease {source="Orphanet:329252"} xref: Orphanet:329252 {source="MONDO:equivalentObsolete"} xref: UMLS:CN204201 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:329252"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204201 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:329252"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0017997 name: telecanthus-hypertelorism-strabismus-pes cavus syndrome def: "Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia." [Orphanet:3293] subset: ordo_malformation_syndrome {source="Orphanet:3293"} xref: Orphanet:3293 {source="MONDO:equivalentTo"} xref: UMLS:CN204205 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:3293"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204205 property_value: exactMatch Orphanet:3293 [Term] id: MONDO:0017998 name: PLA2G6-associated neurodegeneration def: "Any neurodegeneration with brain iron accumulation in which the cause of the disease is a mutation in the PLA2G6 gene." [MONDO:patterns/disease_series_by_gene] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:329303"} synonym: "neurodegeneration with brain iron accumulation caused by mutation in PLA2G6" EXACT [] synonym: "PLA2G6 neurodegeneration with brain iron accumulation" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "PLAN" EXACT ABBREVIATION [Orphanet:329303] xref: Orphanet:329303 {source="MONDO:equivalentTo"} is_a: MONDO:0018307 ! neurodegeneration with brain iron accumulation property_value: exactMatch Orphanet:329303 property_value: excluded_subClassOf MONDO:0018118 {source="Orphanet:329303"} property_value: excluded_subClassOf MONDO:0018307 {source="Orphanet:329303"} [Term] id: MONDO:0017999 name: fatty acid hydroxylase-associated neurodegeneration def: "Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus." [Orphanet:329308] subset: ordo_disease {source="Orphanet:329308"} synonym: "FAHN" EXACT ABBREVIATION [Orphanet:329308] xref: MESH:C580102 {source="MONDO:equivalentTo"} xref: Orphanet:329308 {source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:329308"} ! autosomal recessive complex spastic paraplegia is_a: MONDO:0015905 ! syndromic dyslipidemia is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis is_a: MONDO:0018307 {source="Orphanet:329308"} ! neurodegeneration with brain iron accumulation property_value: exactMatch http://identifiers.org/mesh/C580102 property_value: exactMatch Orphanet:329308 [Term] id: MONDO:0018000 name: hereditary thrombocytosis with transverse limb defect def: "Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly." [Orphanet:329319] subset: ordo_disease {source="Orphanet:329319"} synonym: "familial thrombocytosis with transverse limb defect" EXACT [Orphanet:329319] synonym: "thrombocythemia with distal limb defects" RELATED [Orphanet:329319] xref: Orphanet:329319 {source="MONDO:equivalentTo"} xref: UMLS:CN204208 {source="MONDO:equivalentTo"} is_a: MONDO:0009332 ! congenital hematological disorder is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation is_a: MONDO:0021181 {source="MONDO:0016636-obsoleted"} ! inherited blood coagulation disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204208 property_value: exactMatch Orphanet:329319 [Term] id: MONDO:0018001 name: inverse Klippel-Trenaunay syndrome subset: ordo_disease {source="Orphanet:329324"} synonym: "cutaneous hemangioma with muscle or bone atrophy" EXACT [Orphanet:329324] synonym: "inverse Klippel-Trénaunay syndrome" RELATED [Orphanet:329324] xref: Orphanet:329324 {source="MONDO:equivalentTo"} xref: UMLS:CN204209 {source="MONDO:equivalentTo"} is_a: MONDO:0016524 {source="Orphanet:329324"} ! congenital vascular bone syndrome is_a: MONDO:0024499 ! vascular bone neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204209 property_value: exactMatch Orphanet:329324 [Term] id: MONDO:0018002 name: adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy def: "Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases." [Orphanet:329336] subset: ordo_disease {source="Orphanet:329336"} synonym: "adult-onset CPEO with mitochondrial myopathy" EXACT [Orphanet:329336] xref: Orphanet:329336 {source="MONDO:equivalentTo"} xref: SCTID:725464001 {source="MONDO:equivalentTo"} xref: UMLS:C4511138 {source="MONDO:equivalentTo"} is_a: MONDO:0009637 {source="Orphanet:329336"} ! inborn mitochondrial myopathy is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder property_value: exactMatch http://identifiers.org/snomedct/725464001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4511138 property_value: exactMatch Orphanet:329336 [Term] id: MONDO:0018005 name: spastic paraplegia-Paget disease of bone syndrome def: "Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported." [Orphanet:329475] subset: ordo_disease {source="Orphanet:329475"} xref: Orphanet:329475 {source="MONDO:equivalentTo"} xref: UMLS:CN204217 {source="MONDO:equivalentTo"} is_a: MONDO:0015087 {source="Orphanet:329475"} ! autosomal dominant complex spastic paraplegia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204217 property_value: exactMatch Orphanet:329475 property_value: excluded_subClassOf MONDO:0019708 {source="Orphanet:329475"} [Term] id: MONDO:0018006 name: adult-onset distal myopathy due to VCP mutation def: "Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles." [Orphanet:329478] subset: ordo_disease {source="Orphanet:329478"} xref: Orphanet:329478 {source="MONDO:equivalentTo"} xref: UMLS:CN204218 {source="MONDO:equivalentTo"} is_a: MONDO:0016108 {source="Orphanet:329478"} ! autosomal dominant distal myopathy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204218 property_value: exactMatch Orphanet:329478 [Term] id: MONDO:0018007 name: mosaic genome-wide paternal uniparental disomy subset: ordo_malformation_syndrome {source="Orphanet:329813"} synonym: "androgenetic/biparental mosaicism" EXACT [Orphanet:329813] synonym: "genome-wide paternal uniparental disomy mosaicism" EXACT [Orphanet:329813] synonym: "Mosaic genome-wide paternal UPD" EXACT [Orphanet:329813] xref: Orphanet:329813 {source="MONDO:equivalentTo"} xref: UMLS:CN230278 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN230278 property_value: exactMatch Orphanet:329813 [Term] id: MONDO:0018010 name: juvenile idiopathic inflammatory myopathy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:329888"} synonym: "JIIM" EXACT ABBREVIATION [Orphanet:329888] xref: Orphanet:329888 {source="MONDO:equivalentTo"} is_a: MONDO:0020122 {source="Orphanet:329888"} ! acquired idiopathic inflammatory myopathy property_value: exactMatch Orphanet:329888 [Term] id: MONDO:0018013 name: non-immunoglobulin-mediated membranoproliferative glomerulonephritis subset: ordo_clinical_subtype {source="Orphanet:329918"} synonym: "C3 glomerulopathy" EXACT [Orphanet:329918] synonym: "non-Ig-mediated membranoproliferative glomerulonephritis" EXACT [Orphanet:329918] synonym: "non-Ig-mediated MPGN" EXACT [Orphanet:329918] synonym: "non-immunoglobulin-mediated MPGN" EXACT [Orphanet:329918] xref: Orphanet:329918 {source="MONDO:equivalentTo"} is_a: MONDO:0018904 {source="Orphanet:329918"} ! primary membranoproliferative glomerulonephritis property_value: exactMatch Orphanet:329918 [Term] id: MONDO:0018014 name: transient neonatal multiple acyl-CoA dehydrogenase deficiency def: "Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother." [Orphanet:329942] subset: ordo_disease {source="Orphanet:329942"} synonym: "transient neonatal glutaric acidemia type 2" EXACT [Orphanet:329942] synonym: "transient neonatal glutaric aciduria type 2" EXACT [Orphanet:329942] synonym: "transient neonatal MAD deficiency" EXACT [Orphanet:329942] synonym: "transient neonatal MADD" EXACT [Orphanet:329942] xref: Orphanet:329942 {source="MONDO:equivalentTo"} xref: SCTID:723552005 {source="MONDO:equivalentTo"} xref: UMLS:CN204228 {source="MONDO:equivalentTo"} is_a: MONDO:0017714 {source="Orphanet:329942"} ! acyl-CoA dehydrogenase deficiency property_value: exactMatch http://identifiers.org/snomedct/723552005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204228 property_value: exactMatch Orphanet:329942 [Term] id: MONDO:0018015 name: intermittent hydrarthrosis subset: ordo_disease {source="Orphanet:329967"} xref: ICD10CM:M12.4 {source="Orphanet:329967", source="MONDO:equivalentTo", source="Orphanet:329967/e", source="Orphanet:329967/specific"} xref: Orphanet:329967 {source="MONDO:equivalentTo"} xref: SCTID:711286009 {source="MONDO:equivalentTo"} xref: UMLS:C0149910 {source="MONDO:equivalentTo"} is_a: EFO:0005755 {source="Orphanet:329967"} ! rheumatic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015940"} ! rare property_value: exactMatch http://identifiers.org/snomedct/711286009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149910 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/M12.4 property_value: exactMatch Orphanet:329967 [Term] id: MONDO:0018021 name: hypotrichosis-deafness syndrome subset: ordo_disease {source="Orphanet:330029"} xref: Orphanet:330029 {source="MONDO:equivalentTo"} xref: UMLS:CN204237 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204237 property_value: exactMatch Orphanet:330029 property_value: excluded_subClassOf MONDO:0017681 {source="Orphanet:330029"} property_value: excluded_subClassOf MONDO:0019285 {source="Orphanet:330029"} property_value: excluded_subClassOf MONDO:0019589 {source="Orphanet:330029"} property_value: excluded_subClassOf MONDO:0021034 {source="Orphanet:330029"} [Term] id: MONDO:0018022 name: hemoglobin Lepore-beta-thalassemia syndrome subset: ordo_disease {source="Orphanet:330032"} synonym: "HbLepore-beta-thalassemia syndrome" EXACT [Orphanet:330032] synonym: "Lepore-beta-thalassemia syndrome" EXACT [Orphanet:330032] xref: Orphanet:330032 {source="MONDO:equivalentTo"} xref: UMLS:CN227251 {source="MONDO:equivalentTo"} is_a: MONDO:0017145 {source="Orphanet:330032"} ! beta-thalassemia and related diseases property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227251 property_value: exactMatch Orphanet:330032 [Term] id: MONDO:0018023 name: hemoglobin M disease subset: ordo_disease {source="Orphanet:330041"} synonym: "autosomal dominant methemoglobinemia" RELATED [GARD:0013007] synonym: "blue baby syndrome" RELATED [GARD:0013007] synonym: "hereditary methemoglobinemia due to haemoglobin mutation" RELATED OMO:0003005 [] synonym: "hereditary methemoglobinemia due to hemoglobin mutation" RELATED [GARD:0013007] synonym: "M hemoglobinopathy" EXACT [Orphanet:330041] synonym: "methemoglobinemia, beta type" EXACT [OMIM:617971, OMIM:genemap2] synonym: "methemoglobinemia, beta-globin type" RELATED [GARD:0013007] xref: MESH:C581942 {source="MONDO:equivalentTo"} xref: OMIM:617971 {source="MONDO:equivalentTo"} xref: Orphanet:330041 {source="MONDO:equivalentTo", source="OMIM:617971"} xref: SCTID:74912001 {source="MONDO:equivalentTo"} xref: UMLS:C3665425 {source="MONDO:equivalentTo"} xref: UMLS:CN204238 {source="MONDO:equivalentTo"} is_a: MONDO:0018963 {source="https://github.com/monarch-initiative/mondo/issues/1612", source="https://medlineplus.gov/ency/article/000562.htm"} ! hereditary methemoglobinemia property_value: exactMatch http://identifiers.org/mesh/C581942 property_value: exactMatch http://identifiers.org/snomedct/74912001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3665425 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204238 property_value: exactMatch https://omim.org/entry/617971 property_value: exactMatch Orphanet:330041 property_value: excluded_subClassOf MONDO:0019050 {source="Orphanet:330041", source="Orphanet:330041/inferred"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0018026 name: tetraploidy syndrome def: "The presence of four sets of chromosomes. It is associated with abnormalities, multiple; and miscarrages." [MESH:D057891] subset: gard_rare {source="GARD:0005151"} subset: ordo_malformation_syndrome {source="Orphanet:3305"} synonym: "tetraploidy" EXACT [] xref: MESH:D057891 {source="MONDO:equivalentTo", source="Orphanet:3305", source="Orphanet:3305/e"} xref: Orphanet:3305 {source="MONDO:equivalentTo"} xref: SCTID:726363000 {source="MONDO:equivalentTo"} xref: UMLS:C0795884 {source="MONDO:equivalentTo"} is_a: MONDO:0019934 {source="MESH:D057891", source="Orphanet:3305"} ! polyploidy property_value: exactMatch http://identifiers.org/mesh/D057891 property_value: exactMatch http://identifiers.org/snomedct/726363000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795884 property_value: exactMatch Orphanet:3305 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5151/tetraploidy xsd:anyURI {source="GARD:0005151"} [Term] id: MONDO:0018027 name: duplication/inversion 15q11 def: "Isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15) which is made of two pieces of chromosome 15 that are stuck together end-to-end. Although the severity of the condition and the associated features vary from person to person, common signs and symptoms include poor muscle tone in newborns; developmental delay; mild to severe intellectual disability; delayed or absent speech; behavioral abnormalities; and seizures. Most cases of isodicentric chromosome 15 syndrome occur sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person." [GARD:0005153] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:3306"} synonym: "chromosome 15q tetrasomy" RELATED [GARD:0005153] synonym: "duplication/inversion 15q11" EXACT [GARD:0005153] synonym: "Duplication/inversion type 15q11" EXACT [MONDORULE:7, Orphanet:3306] synonym: "idic(15)" EXACT [Orphanet:3306] synonym: "Inv dup(15)" EXACT [Orphanet:3306] synonym: "Invdup(15)" EXACT [Orphanet:3306] synonym: "inverted duplication 15" RELATED [GARD:0005153] synonym: "Isodicentric 15 chromosome" EXACT [Orphanet:3306] synonym: "Isodicentric chromosome 15 syndrome" RELATED [GARD:0005153] synonym: "non-distal tetrasomy 15q" EXACT [GARD:0005153, Orphanet:3306] synonym: "non-telomeric tetrasomy 15q" EXACT [GARD:0005153, Orphanet:3306] synonym: "tetrasomy 15q" RELATED [GARD:0005153] xref: MESH:C580205 {source="MONDO:equivalentTo"} xref: Orphanet:3306 {source="MONDO:equivalentTo", source="GARD:0005153"} xref: SCTID:723332005 {source="MONDO:equivalentTo"} is_a: MONDO:0019040 {source="https://orcid.org/0000-0001-5208-3432"} ! chromosomal disorder property_value: exactMatch http://identifiers.org/mesh/C580205 property_value: exactMatch http://identifiers.org/snomedct/723332005 property_value: exactMatch Orphanet:3306 property_value: excluded_subClassOf MONDO:0005027 {source="MONDO:0015652-obsoleted", source="MONDO:Redundant", source="MONDO:indirect"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5153/isodicentric-chromosome-15-syndrome xsd:anyURI {source="GARD:0005153"} [Term] id: MONDO:0018028 name: tetrasomy 5p def: "Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia)." [Orphanet:3309] subset: ordo_malformation_syndrome {source="Orphanet:3309"} synonym: "Isochromosome 5p" EXACT [Orphanet:3309] synonym: "tetrasomy type 5p" EXACT [MONDORULE:4, Orphanet:3309] xref: Orphanet:3309 {source="MONDO:equivalentTo"} xref: SCTID:766755003 {source="MONDO:equivalentTo"} is_a: MONDO:0016942 {source="Orphanet:3309", source="Orphanet:3309/inferred"} ! partial trisomy/tetrasomy of the short arm of chromosome 5 property_value: exactMatch http://identifiers.org/snomedct/766755003 property_value: exactMatch Orphanet:3309 property_value: excluded_subClassOf MONDO:0020226 {source="Orphanet:3309"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI [Term] id: MONDO:0018029 name: congenital factor XIII deficiency def: "Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies." [Orphanet:331] subset: ordo_disease {source="Orphanet:331"} synonym: "deficiency, Laki-Lorand factor" EXACT [DOID:2211] synonym: "factor XIII deficiency" RELATED [DOID:2211] synonym: "factor XIII deficiency disease" EXACT [DOID:2211] synonym: "fibrin stabilising factor deficiency" RELATED OMO:0003005 [] synonym: "fibrin stabilizing factor deficiency" RELATED [GARD:0010766] synonym: "fibrin-stabilizing factor deficiency" BROAD [Orphanet:331] synonym: "hereditary factor XIII deficiency disease" EXACT [DOID:2211] xref: DOID:2211 {source="MONDO:equivalentTo"} xref: ICD9:286.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C131633 {source="MONDO:equivalentTo"} xref: Orphanet:331 {source="MONDO:equivalentTo"} xref: SCTID:50189006 {source="DOID:2211", source="MONDO:equivalentTo"} is_a: MONDO:0002241 {source="MONDO:cjm"} ! factor XIII deficiency is_a: MONDO:0002243 {source="MESH:D005177"} ! hemorrhagic disease is_a: MONDO:0009332 ! congenital hematological disorder property_value: exactMatch DOID:2211 property_value: exactMatch http://identifiers.org/snomedct/50189006 property_value: exactMatch NCIT:C131633 property_value: exactMatch Orphanet:331 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5537 xsd:anyURI [Term] id: MONDO:0018030 name: tetrasomy 9p def: "Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism)." [Orphanet:3310] subset: gard_rare {source="GARD:0000042"} subset: ordo_malformation_syndrome {source="Orphanet:3310"} synonym: "chromosome 9p tetrasomy" RELATED [GARD:0000042] synonym: "Isochromosome 9p" EXACT [Orphanet:3310] synonym: "Mosaic tetrasomy 9p" RELATED [GARD:0000042] synonym: "tetrasomy of short arm of chromosome 9" RELATED [GARD:0000042] synonym: "tetrasomy type 9p" EXACT [MONDORULE:4, Orphanet:3310] xref: MESH:C538027 {source="Orphanet:3310", source="MONDO:equivalentTo", source="Orphanet:3310/e"} xref: Orphanet:3310 {source="MONDO:equivalentTo"} xref: SCTID:715530004 {source="MONDO:equivalentTo"} xref: UMLS:C0795832 {source="Orphanet:3310", source="MONDO:equivalentTo", source="Orphanet:3310/e"} is_a: MONDO:0700043 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication of the short arm of chromosome 9 property_value: exactMatch http://identifiers.org/mesh/C538027 property_value: exactMatch http://identifiers.org/snomedct/715530004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795832 property_value: exactMatch Orphanet:3310 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/42/tetrasomy-9p xsd:anyURI {source="GARD:0000042"} [Term] id: MONDO:0018033 name: obsolete other immunodeficiency syndromes due to defects in innate immunity subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:331193"} xref: Orphanet:331193 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN204276 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204276 property_value: exactMatch Orphanet:331193 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true [Term] id: MONDO:0018035 name: obsolete syndrome with combined immunodeficiency comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' subset: ordo_group_of_disorders {source="Orphanet:331217"} xref: Orphanet:331217 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN204279 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204279 property_value: exactMatch Orphanet:331217 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3886 xsd:anyURI is_obsolete: true consider: MONDO:0002254 [Term] id: MONDO:0018037 name: hyper-IgE syndrome def: "A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections." [NCIT:C3144] subset: disease_grouping subset: gard_rare subset: ordo_group_of_disorders {source="Orphanet:331223"} synonym: "HIES" EXACT ABBREVIATION [GARD:0010956] synonym: "hyper-IgE recurrent infection syndrome" EXACT [GARD:0010956] synonym: "hyperimmunoglobulin E syndrome" EXACT [GARD:0010956, NCIT:C3144] xref: DOID:0080545 {source="MONDO:equivalentTo"} xref: NCIT:C3144 {source="MONDO:equivalentTo"} xref: OMIMPS:147060 {source="MONDO:equivalentTo"} xref: Orphanet:331223 {source="MONDO:equivalentTo"} xref: UMLS:CN204280 {source="MONDO:equivalentTo"} is_a: MONDO:0002468 {source="NCIT:C3144"} ! hyperimmunoglobulin syndrome is_a: MONDO:0015823 ! primary immunodeficiency due to a defect in adaptive immunity property_value: exactMatch DOID:0080545 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204280 property_value: exactMatch https://omim.org/phenotypicSeries/PS147060 property_value: exactMatch NCIT:C3144 property_value: exactMatch Orphanet:331223 [Term] id: MONDO:0018039 name: selective IgM deficiency def: "Selective IgM deficiency (SIgMD) is a rare immune disorder that has been reported in association with serious infections, such as bacteria in the blood (bacteremia, also known as septicemia). Although SIgMD was first described in two children, the disorder can occur in babies, children, and adults. It is characterized by isolated absence or deficiency of immunoglobulin M (IgM), normal levels of other immunoglobulins, and recurrent infections (especially by Staphylococcus aureus, Streptococcus pneumoniae, Hemophilus influenza). The cause is still unclear. The diagnosis includes isolated deficiency ofIgM in the blood and no other immunodeficiency or secondary cause of low IgM. Patients with SIgMD and recurrent infections are managed like other antibody defects and deficiencies. It is suggested that people with SIgMD have pneumococcal and meningococcal vaccines, people with SIgMD who have recurrent infections should have prophylactic antibiotics and immune globulin replacement." [https://rarediseases.info.nih.gov/diseases/12547/selective-igm-deficiency] subset: gard_rare {source="GARD:0012547"} subset: ordo_disease {source="Orphanet:331235"} synonym: "selective IgM deficiency disease" EXACT [MONDO:0000289] synonym: "selective immunoglobulin M deficiency" EXACT [Orphanet:331235] synonym: "SIgMD" RELATED [GARD:0012547] xref: DOID:0050222 {source="MONDO:equivalentTo"} xref: ICD9:279.02 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: Orphanet:331235 {source="MONDO:equivalentTo"} xref: SCTID:190980000 {source="MONDO:equivalentTo"} is_a: MONDO:0001342 {source="DOID:0050222"} ! dysgammaglobulinemia is_a: MONDO:0015132 {source="MONDO:0018038-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! immunodeficiency predominantly affecting antibody production property_value: exactMatch DOID:0050222 property_value: exactMatch http://identifiers.org/snomedct/190980000 property_value: exactMatch Orphanet:331235 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12547/selective-igm-deficiency xsd:anyURI {source="GARD:0012547"} [Term] id: MONDO:0018041 name: obsolete other immunodeficiency syndrome with predominantly antibody defects subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:331244"} xref: Orphanet:331244 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN204282 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204282 property_value: exactMatch Orphanet:331244 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true [Term] id: MONDO:0018043 name: Thomas syndrome def: "Thomas syndrome is characterized by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive." [Orphanet:3316] subset: ordo_malformation_syndrome {source="Orphanet:3316"} synonym: "Potter sequence-cleft lip/palate-cardiopathy syndrome" EXACT [Orphanet:3316] xref: MESH:C536514 {source="MONDO:equivalentTo", source="Orphanet:3316", source="Orphanet:3316/e"} xref: Orphanet:3316 {source="MONDO:equivalentTo"} xref: SCTID:716740009 {source="MONDO:equivalentTo"} xref: UMLS:C2931225 {source="MONDO:equivalentTo", source="Orphanet:3316", source="Orphanet:3316/e"} is_a: EFO:0003777 {source="MONDO:0015506-obsoleted"} ! heart disease is_a: MONDO:0015161 {source="Orphanet:3316"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability property_value: exactMatch http://identifiers.org/mesh/C536514 property_value: exactMatch http://identifiers.org/snomedct/716740009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931225 property_value: exactMatch Orphanet:3316 [Term] id: MONDO:0018044 name: idiopathic hypersomnia def: "Idiopathic hypersomnia is a sleep disorder classified in two forms: idiopathic hypersomnia with long sleep time and idiopathic hypersomnia without long sleep time." [Orphanet:33208] subset: gard_rare {source="GARD:0008737"} subset: ordo_disease {source="Orphanet:33208"} synonym: "idiopathic hypersomnolence" RELATED [GARD:0008737] synonym: "primary hypersomnia" EXACT [Orphanet:33208] xref: MESH:D020177 {source="MONDO:equivalentTo"} xref: NCIT:C116343 {source="MONDO:equivalentTo"} xref: Orphanet:33208 {source="MONDO:equivalentTo"} xref: SCTID:3731000119107 {source="MONDO:equivalentTo"} xref: UMLS:C0751757 {source="MONDO:equivalentTo", source="Orphanet:33208"} is_a: EFO:0005246 {source="NCIT:C116343"} ! hypersomnia is_a: MONDO:0700007 ! idiopathic disease intersection_of: EFO:0005246 ! hypersomnia intersection_of: has_characteristic MONDO:0700005 ! idiopathic relationship: has_characteristic MONDO:0021136 {source="MONDO:0019045"} ! rare property_value: exactMatch http://identifiers.org/mesh/D020177 property_value: exactMatch http://identifiers.org/snomedct/3731000119107 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751757 property_value: exactMatch NCIT:C116343 property_value: exactMatch Orphanet:33208 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8737/idiopathic-hypersomnia xsd:anyURI {source="GARD:0008737"} [Term] id: MONDO:0018045 name: Hoyeraal-Hreidarsson syndrome def: "Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." [Orphanet:3322] subset: ordo_disease {source="Orphanet:3322"} synonym: "Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia" RELATED [GARD:0000346] synonym: "Hoyeraal Hreidarsson syndrome" RELATED [GARD:0000346] synonym: "progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome" EXACT [Orphanet:3322] xref: MESH:C536068 {source="Orphanet:3322", source="MONDO:equivalentTo", source="Orphanet:3322/e"} xref: Orphanet:3322 {source="MONDO:equivalentTo"} xref: SCTID:707276009 {source="MONDO:equivalentTo"} xref: UMLS:C1846142 {source="Orphanet:3322", source="MONDO:equivalentTo", source="Orphanet:3322/e"} is_a: MONDO:0010584 ! dyskeratosis congenita, X-linked is_a: MONDO:0020022 ! central nervous system malformation relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation property_value: exactMatch http://identifiers.org/mesh/C536068 property_value: exactMatch http://identifiers.org/snomedct/707276009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846142 property_value: exactMatch Orphanet:3322 [Term] id: MONDO:0018046 name: thrombocytopenia-Robin sequence syndrome subset: ordo_malformation_syndrome {source="Orphanet:3323"} synonym: "Braddock Carey syndrome" RELATED [GARD:0005193] synonym: "congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay" RELATED [GARD:0005193] synonym: "thrombocytopenia Robin sequence" RELATED [GARD:0005193] xref: MESH:C536898 {source="Orphanet:3323", source="MONDO:equivalentTo", source="Orphanet:3323/e"} xref: Orphanet:3323 {source="MONDO:equivalentObsolete"} xref: UMLS:C2931364 {source="Orphanet:3323", source="MONDO:equivalentTo", source="Orphanet:3323/e"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C536898 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931364 [Term] id: MONDO:0018047 name: familial thrombomodulin anomalies subset: gard_rare {source="GARD:0005195"} subset: ordo_disease {source="Orphanet:3324"} synonym: "thrombomodulin anomalies, familial" RELATED [GARD:0005195] xref: HGNC:11784 {source="GARD:0005195"} xref: MESH:C536900 {source="Orphanet:3324", source="MONDO:equivalentTo", source="Orphanet:3324/e"} xref: Orphanet:3324 {source="MONDO:equivalentTo"} xref: UMLS:C2931365 {source="Orphanet:3324", source="MONDO:equivalentTo", source="Orphanet:3324/e"} is_a: MONDO:0021181 {source="MONDO:0016633-obsoleted"} ! inherited blood coagulation disorder property_value: exactMatch http://identifiers.org/mesh/C536900 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931365 property_value: exactMatch Orphanet:3324 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5195/thrombomodulin-anomalies-familial xsd:anyURI {source="GARD:0005195"} [Term] id: MONDO:0018050 name: tibial aplasia-ectrodactyly syndrome def: "Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia." [Orphanet:3329] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:3329"} synonym: "aplasia of tibia with ectrodactyly" RELATED [GARD:0001369] synonym: "aplasia of tibia with split-hand/split-foot deformity" EXACT [Orphanet:3329] synonym: "ectrodactyly with aplasia of long bones" RELATED [GARD:0001369] synonym: "SHFLD" RELATED ABBREVIATION [GARD:0001369] synonym: "SHFLD syndrome" EXACT [Orphanet:3329] synonym: "SHFM associated with aplasia of long bones" EXACT [Orphanet:3329] synonym: "split hand/foot malformation with long bone deficiency" EXACT [Orphanet:3329] synonym: "split-hand/foot malformation associated with aplasia of long bones" EXACT [Orphanet:3329] synonym: "split-hand/foot malformation with long bone deficiency" RELATED [GARD:0001369] synonym: "TH-SHFM" EXACT [Orphanet:3329] synonym: "tibial aplasia with split-hand/split-foot deformity" RELATED [GARD:0001369] synonym: "tibial hemimelia with split hand/foot malformation" EXACT [Orphanet:3329] synonym: "tibial hemimelia-ectrodactyly syndrome" EXACT [Orphanet:3329] xref: Orphanet:3329 {source="MONDO:equivalentTo", source="GARD:0001369"} is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 {source="MONDO:0015226-obsoleted"} ! congenital limb malformation property_value: exactMatch Orphanet:3329 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1369/cleft-hand-absent-tibia xsd:anyURI {source="GARD:0001369"} [Term] id: MONDO:0018052 name: obsolete hypoplastic tibiae-postaxial polydactyly syndrome property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5501 xsd:anyURI is_obsolete: true replaced_by: MONDO:0008572 [Term] id: MONDO:0018053 name: trichothiodystrophy def: "Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulfur containing keratins)." [Orphanet:33364] subset: ordo_disease {source="Orphanet:33364"} synonym: "trichothiodystrophy syndrome" EXACT [NCIT:C4924] xref: DOID:0111866 {source="MONDO:equivalentTo"} xref: MedDRA:10044628 {source="Orphanet:33364/e", source="Orphanet:33364"} xref: NCIT:C4924 {source="MONDO:equivalentTo"} xref: OMIMPS:601675 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:33364 {source="MONDO:equivalentTo"} xref: SCTID:723551003 {source="MONDO:equivalentTo"} xref: UMLS:C1955934 {source="Orphanet:33364/e", source="MONDO:equivalentTo", source="Orphanet:33364", source="NCIT:C4924"} is_a: MONDO:0017270 ! autosomal ichthyosis syndrome is_a: MONDO:0019287 {source="Orphanet:33364"} ! ectodermal dysplasia syndrome property_value: closeMatch http://identifiers.org/meddra/10044628 property_value: exactMatch DOID:0111866 property_value: exactMatch http://identifiers.org/snomedct/723551003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1955934 property_value: exactMatch https://omim.org/phenotypicSeries/PS601675 property_value: exactMatch NCIT:C4924 property_value: exactMatch Orphanet:33364 [Term] id: MONDO:0018054 name: familial atrial fibrillation def: "An autosomal dominant heart condition that causes disruptions in the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular." [http://en.wikipedia.org/wiki/Familial_atrial_fibrillation] comment: Editor note: DO def states this as being in ATFB but this is not correct subset: ordo_disease {source="Orphanet:334"} synonym: "ATFB" EXACT ABBREVIATION [DOID:0050650] synonym: "atrial fibrillation autosomal dominant" RELATED [GARD:0009740] synonym: "atrial fibrillation, familial" RELATED [GARD:0009740, OMIMPS:608583] synonym: "autosomal dominant atrial fibrillation" RELATED [GARD:0009740] synonym: "hereditary atrial fibrillation (disease)" EXACT [MONDO:patterns/hereditary] xref: DOID:0050650 {source="MONDO:equivalentTo"} xref: OMIMPS:608583 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:334 {source="DOID:0050650", source="MONDO:equivalentTo"} xref: SCTID:715395008 {source="MONDO:equivalentTo"} xref: UMLS:CN204347 {source="MONDO:equivalentTo"} is_a: EFO:0000275 {source="DOID:0050650", source="MONDO:DOID", source="MONDO:Redundant"} ! atrial fibrillation is_a: EFO:0000508 ! genetic disorder intersection_of: EFO:0000275 ! atrial fibrillation intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch DOID:0050650 property_value: exactMatch http://identifiers.org/snomedct/715395008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204347 property_value: exactMatch https://omim.org/phenotypicSeries/PS608583 property_value: exactMatch Orphanet:334 [Term] id: MONDO:0018060 name: congenital fibrinogen deficiency def: "Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia)." [Orphanet:335] subset: gard_rare {source="GARD:0002320"} subset: ordo_disease {source="Orphanet:335"} synonym: "congenital fibrinogen deficiency" EXACT [] synonym: "fibrinogen deficiency, congenital" RELATED [GARD:0002320] xref: Orphanet:335 {source="MONDO:equivalentTo"} is_a: MONDO:0002242 {source="MONDO:0019039-obsoleted"} ! coagulation protein disease is_a: MONDO:0002243 ! hemorrhagic disease property_value: exactMatch Orphanet:335 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2320/fibrinogen-deficiency-congenital xsd:anyURI {source="GARD:0002320"} [Term] id: MONDO:0018061 name: trichodermodysplasia-dental alterations syndrome def: "Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, cafC)-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986." [Orphanet:3353] subset: ordo_malformation_syndrome {source="Orphanet:3353"} synonym: "Pinheiro Freire-Maia Miranda syndrome" RELATED [GARD:0004369] synonym: "Pinheiro-Freire Maia-Miranda syndrome" EXACT [Orphanet:3353] synonym: "Trichodermodysplasia with dental alterations" RELATED [GARD:0004369] xref: MESH:C537402 {source="MONDO:equivalentTo"} xref: Orphanet:3353 {source="MONDO:equivalentTo"} xref: UMLS:C2931485 {source="Orphanet:3353", source="MONDO:equivalentTo"} is_a: MONDO:0019287 {source="MESH:C537402", source="Orphanet:3353"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C537402 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931485 property_value: exactMatch Orphanet:3353 [Term] id: MONDO:0018062 name: autosomal dominant trichoodontoonychodysplasia-syndactyly subset: ordo_malformation_syndrome {source="Orphanet:3357"} synonym: "ectodermal dysplasia with corkscrew hairs" RELATED [GARD:0005376] synonym: "Tricho-odonto-onychodysplasia with syndactyly" RELATED [GARD:0005376] synonym: "Trueb Burg Bottani syndrome" RELATED [GARD:0005376] synonym: "Trueb-Burg-Bottani syndrome" EXACT [Orphanet:3357] xref: MESH:C536565 {source="MONDO:equivalentTo"} xref: Orphanet:3357 {source="MONDO:equivalentObsolete"} xref: UMLS:C2931239 {source="Orphanet:3357", source="MONDO:equivalentTo"} is_a: MONDO:0019287 {source="MESH:C536565", source="Orphanet:3357"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C536565 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931239 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5376/trueb-burg-bottani-syndrome xsd:anyURI [Term] id: MONDO:0018064 name: trigonocephaly-broad thumbs syndrome def: "Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait." [Orphanet:3365] subset: ordo_malformation_syndrome {source="Orphanet:3365"} synonym: "Hunter Rudd Hoffmann syndrome" RELATED [GARD:0002756] synonym: "Hunter-Rudd-Hoffmann syndrome" EXACT [Orphanet:3365] xref: Orphanet:3365 {source="MONDO:equivalentTo"} xref: SCTID:719949001 {source="MONDO:equivalentTo"} is_a: MONDO:0015338 {source="Orphanet:3365"} ! syndromic craniosynostosis property_value: exactMatch http://identifiers.org/snomedct/719949001 property_value: exactMatch Orphanet:3365 [Term] id: MONDO:0018065 name: isolated trigonocephaly def: "Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture." [Orphanet:3366] subset: ordo_morphological_anomaly {source="Orphanet:3366"} synonym: "non-syndromic metopic craniosynostosis" EXACT [Orphanet:3366] synonym: "nonsyndromic trigonocephaly" EXACT [MONDO:patterns/isolated] xref: OMIMPS:190440 {source="MONDO:equivalentTo"} xref: Orphanet:3366 {source="MONDO:equivalentTo"} xref: UMLS:CN236409 {source="MONDO:equivalentTo"} xref: UMLS:CN239481 {source="MONDO:equivalentTo"} is_a: MONDO:0000156 ! trigonocephaly is_a: MONDO:0015337 {source="Orphanet:3366"} ! isolated craniosynostosis intersection_of: MONDO:0000156 ! trigonocephaly intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN236409 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239481 property_value: exactMatch https://omim.org/phenotypicSeries/PS190440 property_value: exactMatch Orphanet:3366 property_value: excluded_subClassOf MONDO:0015368 [Term] id: MONDO:0018066 name: trisomy X def: "Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." [Orphanet:3375] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:3375"} synonym: "47 XXX syndrome" RELATED [GARD:0005672] synonym: "47,XXX" EXACT [NCIT:C129718] synonym: "47,XXX syndrome" EXACT [Orphanet:3375] synonym: "triple X syndrome" EXACT [GARD:0005672, Orphanet:3375] synonym: "triple-X chromosome syndrome" RELATED [GARD:0005672] synonym: "triple-X female" RELATED [GARD:0005672] synonym: "Triplo X syndrome" RELATED [GARD:0005672] synonym: "Triplo-X syndrome" EXACT [Orphanet:3375] synonym: "trisomy type X" EXACT [MONDORULE:1, Orphanet:3375] synonym: "trisomy X" EXACT [GARD:0005672] synonym: "XXX syndrome" EXACT [GARD:0005672, Orphanet:3375] xref: MESH:C535318 {source="MONDO:equivalentTo"} xref: NCIT:C129718 {source="MONDO:equivalentTo"} xref: Orphanet:3375 {source="MONDO:equivalentTo", source="GARD:0005672"} xref: SCTID:35111009 {source="MONDO:equivalentTo"} xref: UMLS:C0221033 {source="Orphanet:3375", source="MONDO:equivalentTo", source="Orphanet:3375/e", source="GARD:0005672", source="NCIT:C129718"} is_a: MONDO:0002254 {source="MONDO:cjm", source="NCIT:C129718"} ! syndromic disease is_a: MONDO:0019852 {source="Orphanet:3375"} ! inherited primary ovarian failure is_a: MONDO:0700027 ! chromosome X disorder is_a: MONDO:0700065 {source="https://orcid.org/0000-0002-4142-7153"} ! trisomy property_value: exactMatch http://identifiers.org/mesh/C535318 property_value: exactMatch http://identifiers.org/snomedct/35111009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221033 property_value: exactMatch NCIT:C129718 property_value: exactMatch Orphanet:3375 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5672/47-xxx-syndrome xsd:anyURI {source="GARD:0005672"} [Term] id: MONDO:0018067 name: triploidy def: "Triploidy is a chromosome abnormality that occurs when there is an extra set of chromosomes present in each cell. Most pregnancies affected by triploidy are lost through early miscarriage. However, reports exist of some affected babies living up to five months. Those that survive are often mosaic. The signs and symptoms associated with triploidy vary but may include a variety of birth defects and an unusually small size. This condition does not run in families and is not associated with maternal or paternal age. Treatment is based on the signs and symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/5295/triploidy] subset: gard_rare {source="GARD:0005295"} subset: ordo_malformation_syndrome {source="Orphanet:3376"} synonym: "chromosome triploidy syndrome" RELATED [GARD:0005295] synonym: "triploid syndrome" RELATED [GARD:0005295] synonym: "triploidy syndrome" RELATED [GARD:0005295] xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D057885 {source="Orphanet:3376", source="MONDO:equivalentTo", source="Orphanet:3376/e"} xref: NCIT:C85204 {source="MONDO:equivalentTo"} xref: Orphanet:3376 {source="MONDO:equivalentTo"} xref: SCTID:66651005 {source="MONDO:equivalentTo"} xref: UMLS:C0333693 {source="Orphanet:3376", source="MONDO:equivalentTo", source="Orphanet:3376/e"} is_a: MONDO:0016565 {source="Orphanet:3376"} ! syndromic genetic obesity is_a: MONDO:0019934 {source="MESH:D057885", source="Orphanet:3376"} ! polyploidy property_value: exactMatch http://identifiers.org/mesh/D057885 property_value: exactMatch http://identifiers.org/snomedct/66651005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0333693 property_value: exactMatch NCIT:C85204 property_value: exactMatch Orphanet:3376 property_value: excluded_subClassOf MONDO:0020226 {source="Orphanet:3376"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5295/triploidy xsd:anyURI {source="GARD:0005295"} [Term] id: MONDO:0018068 name: trisomy 13 def: "Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation." [Orphanet:3378] subset: ordo_malformation_syndrome {source="Orphanet:3378"} synonym: "chromosome 13, trisomy 13 complete" RELATED [GARD:0007341] synonym: "D trisomy syndrome (formerly)" RELATED [GARD:0007341] synonym: "D1 trisomy" RELATED [DOID:11665, NCIT:C36529] synonym: "Patau syndrome" EXACT [MONDO:0001333, NCIT:C101223, Orphanet:3378] synonym: "Patau's syndrome" EXACT [DOID:11665, ICD9CM:758.1] synonym: "trisomy 13" EXACT [DOID:11665] synonym: "trisomy type 13" EXACT [MONDORULE:2, Orphanet:3378] xref: DOID:11665 {source="MONDO:equivalentTo"} xref: ICD9:758.1 {source="DOID:11665", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10044686 {source="Orphanet:3378", source="Orphanet:3378/e"} xref: MESH:C536305 {source="DOID:11665", source="MONDO:equivalentTo"} xref: NCIT:C101223 {source="DOID:11665", source="MONDO:equivalentTo"} xref: NCIT:C36529 {source="MONDO:relatedTo", source="MONDO:otherHierarchy"} xref: Orphanet:3378 {source="MONDO:equivalentTo"} xref: SCTID:21111006 {source="DOID:11665", source="MONDO:equivalentTo"} xref: UMLS:C0152095 {source="DOID:11665", source="Orphanet:3378", source="MONDO:equivalentTo", source="NCIT:C101223"} xref: UMLS:CN204386 {source="MONDO:equivalentTo"} is_a: MONDO:0015246 {source="Orphanet:3378"} ! syndromic anorectal malformation is_a: MONDO:0020247 {source="Orphanet:3378"} ! congenital vitreoretinal dysplasia is_a: MONDO:0700020 ! chromosome 13 disorder is_a: MONDO:0700065 ! trisomy property_value: closeMatch http://identifiers.org/meddra/10044686 property_value: exactMatch DOID:11665 property_value: exactMatch http://identifiers.org/mesh/C536305 property_value: exactMatch http://identifiers.org/snomedct/21111006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152095 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204386 property_value: exactMatch NCIT:C101223 property_value: exactMatch Orphanet:3378 property_value: excluded_subClassOf MONDO:0015368 property_value: excluded_subClassOf MONDO:0020226 {source="Orphanet:3378"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/pull/5597#issuecomment-1316149238 xsd:anyURI property_value: relatedMatch NCIT:C36529 [Term] id: MONDO:0018069 name: distal trisomy 17q def: "Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated." [Orphanet:3379] subset: ordo_malformation_syndrome {source="Orphanet:3379"} synonym: "distal duplication 17q" EXACT [Orphanet:3379] synonym: "distal trisomy type 17q" EXACT [MONDORULE:4, Orphanet:3379] synonym: "telomeric duplication 17q" EXACT [Orphanet:3379] synonym: "trisomy 17qter" EXACT [Orphanet:3379] xref: Orphanet:3379 {source="MONDO:equivalentTo"} xref: SCTID:766051001 {source="MONDO:equivalentTo"} is_a: MONDO:0016967 {source="Orphanet:3379"} ! partial duplication of the long arm of chromosome 17 property_value: exactMatch http://identifiers.org/snomedct/766051001 property_value: exactMatch Orphanet:3379 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI [Term] id: MONDO:0018070 name: familial multiple fibrofolliculoma def: "Familial multiple fibrofolliculoma is a genodermatosis characterized by the presence of multiple hamartomas of the hair follicle. It has been described in one family so far." [Orphanet:338] subset: gard_rare {source="GARD:0003831"} subset: ordo_disease {source="Orphanet:338"} synonym: "multiple fibrofolliculoma familial" RELATED [GARD:0003831] xref: Orphanet:338 {source="MONDO:equivalentObsolete"} xref: SCTID:723361006 {source="MONDO:equivalentTo"} xref: UMLS:C4509837 {source="MONDO:equivalentObsolete"} xref: UMLS:CN204388 {source="MONDO:equivalentTo"} is_a: MONDO:0015950 {source="Orphanet:338"} ! inherited skin tumor property_value: exactMatch http://identifiers.org/snomedct/723361006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204388 property_value: excluded_subClassOf MONDO:0019300 {source="Orphanet:338"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3831/multiple-fibrofolliculoma-familial xsd:anyURI {source="GARD:0003831"} [Term] id: MONDO:0018071 name: trisomy 18 def: "Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations." [Orphanet:3380] subset: ordo_malformation_syndrome {source="Orphanet:3380"} synonym: "18 trisomy" RELATED [GARD:0006321] synonym: "chromosome 18 duplication" EXACT [Orphanet:3380] synonym: "chromosome 18 trisomy" RELATED [GARD:0006321] synonym: "complete trisomy 18 syndrome" EXACT [DOID:1085] synonym: "E3 trisomy" EXACT [DOID:1085] synonym: "Edwards syndrome" EXACT [MONDO:0001140, Orphanet:3380] synonym: "trisomy 16-18 (formerly)" RELATED [GARD:0006321] synonym: "trisomy 18" EXACT [DOID:1085] synonym: "trisomy E (formerly)" RELATED [GARD:0006321] synonym: "trisomy type 18" EXACT [MONDORULE:2, Orphanet:3380] xref: DOID:1085 {source="MONDO:equivalentTo"} xref: ICD9:758.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1085"} xref: MedDRA:10053884 {source="Orphanet:3380/e", source="Orphanet:3380"} xref: MESH:C580500 {source="MONDO:equivalentTo", source="DOID:1085"} xref: NCIT:C36626 {source="MONDO:relatedTo", source="MONDO:otherHierarchy", source="MONDO:exact-label-match"} xref: Orphanet:3380 {source="MONDO:equivalentTo"} xref: SCTID:51500006 {source="MONDO:equivalentTo", source="DOID:1085"} xref: UMLS:C0152096 {source="Orphanet:3380/e", source="MONDO:equivalentTo", source="Orphanet:3380", source="DOID:1085"} is_a: MONDO:0015246 {source="Orphanet:3380"} ! syndromic anorectal malformation is_a: MONDO:0700065 ! trisomy is_a: MONDO:0700125 ! chromosome 18 disorder property_value: closeMatch http://identifiers.org/meddra/10053884 property_value: exactMatch DOID:1085 property_value: exactMatch http://identifiers.org/mesh/C580500 property_value: exactMatch http://identifiers.org/snomedct/51500006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152096 property_value: exactMatch Orphanet:3380 property_value: excluded_subClassOf MONDO:0020186 {source="Orphanet:3380"} property_value: excluded_subClassOf MONDO:0020190 {source="Orphanet:3380"} property_value: excluded_subClassOf MONDO:0020226 {source="Orphanet:3380"} property_value: relatedMatch NCIT:C36626 [Term] id: MONDO:0018072 name: persistent truncus arteriosus def: "A rare congenital cardiovascular disorder characterized by the failure of the embryologic structure truncus arteriosus to divide into the aorta and pulmonary trunk. It results in the presence of a single vessel instead of two vessels leading out of the heart. Clinical signs and symptoms include cyanosis that is present at birth, poor growth, dyspnea, tachypnea, arrhythmia, cardiomegaly, and heart failure. If it is not surgically repaired, it leads to death." [NCIT:C98880] subset: ordo_morphological_anomaly {source="Orphanet:3384"} synonym: "common aorticopulmonary trunk" EXACT [Orphanet:3384] synonym: "common arterial trunk" EXACT [Orphanet:3384] synonym: "common truncus arteriosus" EXACT [NCIT:C98880] synonym: "persistent truncus arteriosus" EXACT [NCIT:C98880] synonym: "persistent truncus arteriosus (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "TAC" EXACT ABBREVIATION [Orphanet:3384] synonym: "truncus arteriosus" EXACT [NCIT:C98880] xref: MESH:D014339 {source="MONDO:equivalentTo"} xref: NCIT:C98880 {source="MONDO:equivalentTo"} xref: Orphanet:3384 {source="MONDO:equivalentTo"} is_a: EFO:0005207 {source="NCIT:C98880"} ! congenital heart disease is_a: MONDO:0016581 {source="Orphanet:3384"} ! conotruncal heart malformations property_value: exactMatch http://identifiers.org/mesh/D014339 property_value: exactMatch NCIT:C98880 property_value: exactMatch Orphanet:3384 property_value: excluded_subClassOf MONDO:0018797 {source="Orphanet:3384"} property_value: IAO:0000589 "persistent truncus arteriosus (disease)" xsd:string [Term] id: MONDO:0018075 name: neural tube defect def: "A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida." [NCIT:C84923] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:3388"} synonym: "NTD" EXACT ABBREVIATION [NCIT:C84923] synonym: "spinal dysraphism" EXACT [NCIT:C84923] xref: DOID:0080074 {source="MONDO:equivalentTo"} xref: ICD9:742.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D009436 {source="MONDO:equivalentTo"} xref: NCIT:C84923 {source="MONDO:equivalentTo"} xref: Orphanet:3388 {source="MONDO:equivalentTo"} xref: SCTID:253098009 {source="MONDO:equivalentTo"} is_a: MONDO:0020022 {source="MESH:D009436", source="Orphanet:3388/inferred", source="https://github.com/monarch-initiative/mondo-build/issues/58"} ! central nervous system malformation property_value: exactMatch DOID:0080074 property_value: exactMatch http://identifiers.org/mesh/D009436 property_value: exactMatch http://identifiers.org/snomedct/253098009 property_value: exactMatch NCIT:C84923 property_value: exactMatch Orphanet:3388 property_value: excluded_subClassOf MONDO:0015219 {source="Orphanet:3388"} property_value: excluded_subClassOf MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:3388", source="Orphanet:3388/inferred"} [Term] id: MONDO:0018076 name: tuberculosis def: "A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis. Tuberculosis (TB) may affect almost any tissue or organ of the body with the lungs being the most common site of infection. The clinical stages of TB are primary or initial infection, latent or dormant infection, and recrudescent or adult-type TB. Ninety to 95% of primary TB infections may go unrecognized. Histopathologically, tissue lesions consist of granulomas which usually undergo central caseation necrosis. Local symptoms of TB vary according to the part affected; acute symptoms include hectic fever, sweats, and emaciation; serious complications include granulomatous erosion of pulmonary bronchi associated with hemoptysis. If untreated, progressive TB may be associated with a high degree of mortality. This infection is frequently observed in immunocompromised individuals with AIDS or a history of illicit IV drug use." [NCIT:C3423] subset: gard_rare {source="GARD:0007827"} subset: ordo_disease {source="Orphanet:3389"} synonym: "active tuberculosis" NARROW [NCIT:C3423] synonym: "Kochs disease" RELATED [GARD:0007827] synonym: "TB" RELATED ABBREVIATION [GARD:0007827] synonym: "tuberculosis disease" EXACT [NCIT:C3423] xref: DOID:399 {source="MONDO:equivalentTo"} xref: ICD10CM:A15-A19 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:017.90 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:017.92 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:017.94 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:017.96 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10044755 {source="Orphanet:3389", source="Orphanet:3389/e"} xref: MESH:D014376 {source="Orphanet:3389", source="MONDO:equivalentTo", source="Orphanet:3389/e", source="DOID:399"} xref: NCIT:C3423 {source="MONDO:equivalentTo"} xref: Orphanet:3389 {source="MONDO:equivalentTo"} xref: SCTID:56717001 {source="MONDO:equivalentTo"} xref: UMLS:C0041296 {source="Orphanet:3389", source="MONDO:equivalentTo", source="Orphanet:3389/e", source="NCIT:C3423"} xref: UMLS:C0151332 {source="MONDO:equivalentTo"} is_a: MONDO:0000314 {source="DOID:399"} ! primary bacterial infectious disease is_a: MONDO:0020590 ! mycobacterial infectious disease disjoint_from: MONDO:0018469 ! pulmonary non-tuberculous mycobacterial infection relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare property_value: closeMatch http://identifiers.org/meddra/10044755 property_value: exactMatch DOID:399 property_value: exactMatch http://identifiers.org/mesh/D014376 property_value: exactMatch http://identifiers.org/snomedct/56717001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041296 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151332 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A15-A19 property_value: exactMatch NCIT:C3423 property_value: exactMatch Orphanet:3389 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7827/tuberculosis xsd:anyURI {source="GARD:0007827"} [Term] id: MONDO:0018079 name: thymic epithelial neoplasm def: "An epithelial neoplasm that affects the thymus gland. This category includes thymomas and carcinomas." [NCIT:C6450] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:3398"} synonym: "epithelial neoplasm of the Thymus" EXACT [NCIT:C6450] synonym: "epithelial neoplasm of Thymus" EXACT [NCIT:C6450] synonym: "epithelial tumor of the Thymus" EXACT [NCIT:C6450] synonym: "epithelial tumor of Thymus" EXACT [NCIT:C6450] synonym: "epithelial tumour of the Thymus" EXACT OMO:0003005 [] synonym: "epithelial tumour of Thymus" EXACT OMO:0003005 [] synonym: "TEN" EXACT ABBREVIATION [Orphanet:3398] synonym: "Tet" RELATED [ONCOTREE:TET] synonym: "thymic epithelial tumor" EXACT [NCIT:C6450, Orphanet:3398] synonym: "thymic epithelial tumour" EXACT OMO:0003005 [] synonym: "thymic epithelium neoplasm" EXACT [NCIT:C6450] synonym: "thymoma, adult" RELATED [GARD:0005201] synonym: "Thymus epithelial neoplasm" EXACT [NCIT:C6450] synonym: "thymus epithelial neoplasm" EXACT [MONDO:patterns/location] synonym: "Thymus epithelial tumor" EXACT [NCIT:C6450] synonym: "Thymus epithelial tumour" EXACT OMO:0003005 [] xref: ICD10CM:D15.0 {source="Orphanet:3398", source="Orphanet:3398/ntbt", source="MONDO:directSiblingOf"} xref: MESH:C536905 {source="Orphanet:3398", source="MONDO:equivalentTo", source="Orphanet:3398/e"} xref: NCIT:C6450 {source="MONDO:equivalentTo"} xref: ONCOTREE:TET {source="MONDO:equivalentTo"} xref: Orphanet:3398 {source="MONDO:equivalentTo"} xref: UMLS:C1266101 {source="NCIT:C6450", source="Orphanet:3398", source="MONDO:equivalentTo", source="Orphanet:3398/e"} is_a: EFO:0002626 {source="MONDO:Redundant", source="NCIT:C6450", source="ONCOTREE:TET", source="Orphanet:3398"} ! thymus neoplasm is_a: EFO:0006858 {source="MESH:C536905", source="MONDO:Redundant", source="NCIT:C6450"} ! epithelial neoplasm property_value: exactMatch http://identifiers.org/mesh/C536905 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266101 property_value: exactMatch NCIT:C6450 property_value: exactMatch Orphanet:3398 [Term] id: MONDO:0018083 name: transient tyrosinemia of the newborn def: "A benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age." [https://orcid.org/0000-0001-5208-3432, Orphanet:3402] subset: ordo_disease {source="Orphanet:3402"} synonym: "transient neonatal tyrosinemia" EXACT [MONDO:cjm] synonym: "transient tyrosinemia of the neonate" EXACT [Orphanet:3402] synonym: "tyrosine-oxidase temporary deficiency" RELATED [GARD:0005388] xref: Orphanet:3402 {source="MONDO:equivalentTo"} xref: UMLS:CN204402 {source="MONDO:equivalentTo"} is_a: MONDO:0004741 {source="https://orcid.org/0000-0001-5208-3432"} ! tyrosinemia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204402 property_value: exactMatch Orphanet:3402 property_value: excluded_subClassOf MONDO:0017307 {source="Orphanet:3402"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4615 xsd:anyURI [Term] id: MONDO:0018085 name: umbilical cord ulceration-intestinal atresia syndrome def: "Umbilical cord ulceration-intestinal atresia syndrome is characterized by congenital intestinal atresia, umbilical cord ulceration and severe intrauterine hemorrhage." [Orphanet:3405] subset: ordo_malformation_syndrome {source="Orphanet:3405"} synonym: "umbilical cord ulcer with intestinal atresia" RELATED [GARD:0005403] synonym: "umbilical cord ulceration and intestinal atresia" RELATED [GARD:0005403] synonym: "umbilical ulceration and intestinal atresia" RELATED [GARD:0005403] xref: MESH:C536938 {source="MONDO:equivalentTo", source="Orphanet:3405", source="Orphanet:3405/e"} xref: Orphanet:3405 {source="MONDO:equivalentTo"} xref: UMLS:C2931371 {source="MONDO:equivalentTo", source="Orphanet:3405", source="Orphanet:3405/e"} is_a: MONDO:0015212 {source="Orphanet:3405"} ! syndromic intestinal malformation property_value: exactMatch http://identifiers.org/mesh/C536938 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931371 property_value: exactMatch Orphanet:3405 [Term] id: MONDO:0018086 name: ulerythema ophryogenesis def: "Ulerythema ophryogenesis is characterized by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection." [Orphanet:3406] subset: gard_rare {source="GARD:0005395"} subset: ordo_disease {source="Orphanet:3406"} synonym: "keratosis pilaris affecting the follicles of the eyebrow hairs" RELATED [GARD:0005395] synonym: "type of genodermatosis" RELATED [GARD:0005395] xref: Orphanet:3406 {source="MONDO:equivalentTo"} is_a: MONDO:0018855 {source="Orphanet:3406"} ! keratosis pilaris atrophicans property_value: exactMatch Orphanet:3406 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5395/ulerythema-ophryogenesis xsd:anyURI {source="GARD:0005395"} [Term] id: MONDO:0018087 name: viral hemorrhagic fever def: "A viral infectious disease caused by RNA viruses in the Arenaviridae, Bunyaviridae, Filoviridae, or Flaviviridae family, and characterized by a severe multisystem syndrome, with damage to the vascular system and hemorrhaging." [https://www.cdc.gov/vhf/index.html] subset: disease_grouping subset: gard_rare {source="GARD:0005494"} subset: ordo_group_of_disorders {source="Orphanet:341"} synonym: "haemorrhagic fever" BROAD [https://medlineplus.gov/hemorrhagicfevers.html, https://orcid.org/0000-0002-6315-0263] synonym: "haemorrhagic fevers, viral" EXACT [https://orcid.org/0000-0002-6315-0263] synonym: "hemorrhagic fever" BROAD [https://medlineplus.gov/hemorrhagicfevers.html, https://orcid.org/0000-0002-6315-0263] synonym: "hemorrhagic fevers" BROAD [https://orcid.org/0000-0002-6315-0263] synonym: "VHF" EXACT ABBREVIATION [https://orcid.org/0000-0002-6315-0263] synonym: "VHFs" EXACT ABBREVIATION [https://orcid.org/0000-0002-6315-0263] synonym: "viral haemorrhagic fever" EXACT [https://orcid.org/0000-0002-6315-0263] xref: MESH:D006482 {source="MONDO:equivalentTo"} xref: NCIT:C36170 {source="MONDO:equivalentTo"} xref: Orphanet:341 {source="MONDO:equivalentTo"} xref: SCTID:240523007 {source="MONDO:equivalentTo"} xref: UMLS:C0019104 {source="MONDO:equivalentTo", source="NCIT:C36170", source="Orphanet:341"} xref: UMLS:CN204409 {source="MONDO:equivalentTo"} is_a: EFO:0000763 ! viral disease is_a: MONDO:0600002 {source="https://science.jrank.org/pages/3289/Hemorrhagic-Fevers-Diseases.html"} ! hemorrhagic fever relationship: has_characteristic MONDO:0021136 {source="MONDO:0015576"} ! rare property_value: exactMatch http://identifiers.org/mesh/D006482 property_value: exactMatch http://identifiers.org/snomedct/240523007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019104 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204409 property_value: exactMatch NCIT:C36170 property_value: exactMatch Orphanet:341 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5494/viral-hemorrhagic-fever xsd:anyURI {source="GARD:0005494"} [Term] id: MONDO:0018088 name: familial Mediterranean fever def: "Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles." [Orphanet:342] subset: ordo_disease {source="Orphanet:342"} synonym: "benign paroxysmal peritonitis" EXACT [DOID:2987, Orphanet:342] synonym: "benign recurrent polyserositis" EXACT [Orphanet:342] synonym: "familial paroxysmal polyserositis" EXACT [Orphanet:342] synonym: "FMF" EXACT ABBREVIATION [Orphanet:342] synonym: "periodic disease" EXACT [Orphanet:342] xref: DOID:2987 {source="MONDO:equivalentTo"} xref: ICD9:277.31 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2987"} xref: MedDRA:10016207 {source="Orphanet:342/e", source="Orphanet:342"} xref: MESH:D010505 {source="Orphanet:342/e", source="MONDO:equivalentTo", source="DOID:2987", source="Orphanet:342"} xref: NCIT:C84707 {source="MONDO:equivalentTo", source="DOID:2987"} xref: Orphanet:342 {source="MONDO:equivalentTo", source="DOID:2987"} xref: SCTID:12579009 {source="MONDO:equivalentTo", source="DOID:2987"} xref: UMLS:C0031069 {source="Orphanet:342/e", source="MONDO:equivalentTo", source="DOID:2987", source="NCIT:C84707", source="Orphanet:342"} is_a: MONDO:0015135 ! primary immunodeficiency due to a genetic defect in innate immunity is_a: MONDO:0017953 {source="MESH:D010505", source="Orphanet:342"} ! hereditary periodic fever syndrome property_value: closeMatch http://identifiers.org/meddra/10016207 property_value: exactMatch DOID:2987 property_value: exactMatch http://identifiers.org/mesh/D010505 property_value: exactMatch http://identifiers.org/snomedct/12579009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031069 property_value: exactMatch NCIT:C84707 property_value: exactMatch Orphanet:342 property_value: excluded_subClassOf MONDO:0007179 {source="DOID:2987"} property_value: excluded_subClassOf MONDO:0019724 {source="Orphanet:342"} [Term] id: MONDO:0018089 name: double outlet right ventricle def: "Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle." [Orphanet:3426] subset: gard_rare subset: ordo_morphological_anomaly {source="Orphanet:3426"} synonym: "Dextrotransposition of aorta" EXACT [DOID:6406] synonym: "DORV" EXACT ABBREVIATION [Orphanet:3426] synonym: "double outlet right ventricle" EXACT [DOID:6406, ICD9CM:745.11] xref: DOID:6406 {source="MONDO:equivalentTo"} xref: ICD10CM:Q20.1 {source="MONDO:equivalentTo", source="Orphanet:3426", source="Orphanet:3426/specific", source="Orphanet:3426/e"} xref: MedDRA:10013611 {source="Orphanet:3426", source="Orphanet:3426/e"} xref: MESH:D004310 {source="DOID:6406", source="MONDO:equivalentTo", source="Orphanet:3426", source="Orphanet:3426/e"} xref: NCIT:C98916 {source="DOID:6406", source="MONDO:equivalentTo"} xref: Orphanet:3426 {source="MONDO:equivalentTo"} xref: SCTID:204299009 {source="MONDO:equivalentTo"} xref: UMLS:C0013069 {source="GARD:0001908", source="NCIT:C98916", source="DOID:6406", source="MONDO:equivalentTo", source="Orphanet:3426", source="OMIM:217095", source="Orphanet:3426/e"} is_a: MONDO:0002070 {source="DOID:6406"} ! ventricular septal defect is_a: MONDO:0016581 {source="Orphanet:3426"} ! conotruncal heart malformations is_a: MONDO:0017131 {source="Orphanet:3426"} ! hereditary cardiac anomaly property_value: closeMatch http://identifiers.org/meddra/10013611 property_value: exactMatch DOID:6406 property_value: exactMatch http://identifiers.org/mesh/D004310 property_value: exactMatch http://identifiers.org/snomedct/204299009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013069 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q20.1 property_value: exactMatch NCIT:C98916 property_value: exactMatch Orphanet:3426 [Term] id: MONDO:0018091 name: microcephaly-brachydactyly-kyphoscoliosis syndrome def: "Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait." [Orphanet:3433] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:3433"} synonym: "microcephaly brachydactyly kyphoscoliosis" RELATED [GARD:0005490] synonym: "microcephaly, short stature, brachydactyly type D, flattened occiput, low-set large ears, prominent nose, kyphoscoliosis and intellectual disability" RELATED [GARD:0005490] synonym: "Viljoen Kallis Voges syndrome" RELATED [GARD:0005490] synonym: "Viljoen-Kallis-Voges syndrome" EXACT [Orphanet:3433] xref: MESH:C536349 {source="MONDO:equivalentTo"} xref: Orphanet:3433 {source="GARD:0005490", source="MONDO:equivalentTo"} xref: SCTID:719378009 {source="MONDO:equivalentTo"} xref: UMLS:C2931177 {source="Orphanet:3433", source="GARD:0005490", source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:3433"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0018454 ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation property_value: exactMatch http://identifiers.org/mesh/C536349 property_value: exactMatch http://identifiers.org/snomedct/719378009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931177 property_value: exactMatch Orphanet:3433 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3433"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5490/viljoen-kallis-voges-syndrome xsd:anyURI {source="GARD:0005490"} [Term] id: MONDO:0018092 name: Vogt-Koyanagi-Harada disease def: "A bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations." [Orphanet:3437] subset: gard_rare {source="GARD:0007862"} subset: ordo_disease {source="Orphanet:3437"} synonym: "Harada's disease" EXACT [DOID:12297, ICD9CM:363.22] synonym: "Uveomenigitic syndrome" EXACT [Orphanet:3437] synonym: "uveomeningoencephalitic syndrome" EXACT [DOID:12297] synonym: "VKH disease" RELATED [GARD:0007862] synonym: "VKH syndrome" RELATED [GARD:0007862] synonym: "Vogt-Koyanagi syndrome" EXACT [DOID:12297, ICD9CM:364.24] synonym: "Vogt-Koyanagi-Harada syndrome" RELATED [GARD:0007862] xref: DOID:12297 {source="MONDO:equivalentTo"} xref: ICD9:363.22 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12297"} xref: ICD9:364.24 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12297"} xref: MESH:D014607 {source="MONDO:equivalentTo", source="DOID:12297"} xref: NCIT:C85218 {source="MONDO:equivalentTo", source="DOID:12297"} xref: Orphanet:3437 {source="MONDO:equivalentTo"} xref: SCTID:193497004 {source="MONDO:equivalentTo", source="DOID:12297"} xref: UMLS:C0042170 {source="NCIT:C85218", source="MONDO:equivalentTo", source="Orphanet:3437", source="DOID:12297"} is_a: EFO:1001082 {source="Orphanet:3437"} ! panuveitis property_value: exactMatch DOID:12297 property_value: exactMatch http://identifiers.org/mesh/D014607 property_value: exactMatch http://identifiers.org/snomedct/193497004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042170 property_value: exactMatch NCIT:C85218 property_value: exactMatch Orphanet:3437 property_value: excluded_subClassOf MONDO:0002254 {source="NCIT:C85218"} property_value: excluded_subClassOf MONDO:0002977 {source="MESH:D014607"} property_value: excluded_subClassOf MONDO:0005071 {source="MONDO:0015916-obsoleted"} property_value: excluded_subClassOf MONDO:0020191 {source="Orphanet:3437"} property_value: gwas:trait "true" xsd:boolean property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7862/vogt-koyanagi-harada-disease xsd:anyURI {source="GARD:0007862"} [Term] id: MONDO:0018094 name: Waardenburg syndrome def: "A disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." [Orphanet:3440] subset: clingen subset: ordo_disease {source="Orphanet:3440"} synonym: "Mende syndrome" RELATED [GARD:0005525] synonym: "Van der Hoeve Halbertsma Waardenburg Gualdi syndrome" RELATED [GARD:0005525] synonym: "van der Hoeve Halbertsona Waardenburg syndrome" EXACT [DOID:9258] synonym: "Waardenburg Shah syndrome" EXACT [DOID:9258] synonym: "Waardenburg syndrome" EXACT [DOID:9258] synonym: "Waardenburg's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] synonym: "Waardenburg, types I and/or II" NARROW [DOID:9258] xref: DOID:9258 {source="MONDO:equivalentTo"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:3440/index", source="Orphanet:3440/ntbt", source="Orphanet:3440"} xref: MedDRA:10069203 {source="Orphanet:3440/e", source="Orphanet:3440"} xref: MESH:D014849 {source="https://orcid.org/0000-0003-1967-3726", source="Orphanet:3440/e", source="MONDO:equivalentTo", source="DOID:9258", source="Orphanet:3440"} xref: NCIT:C85222 {source="MONDO:equivalentTo", source="DOID:9258"} xref: OMIMPS:193500 {source="MONDO:equivalentTo", source="DOID:9258"} xref: Orphanet:3440 {source="MONDO:equivalentTo", source="DOID:9258"} xref: SCTID:715952000 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 {source="DOID:9258", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C85222"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:3440"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability property_value: closeMatch http://identifiers.org/meddra/10069203 property_value: exactMatch DOID:9258 property_value: exactMatch http://identifiers.org/mesh/D014849 property_value: exactMatch http://identifiers.org/snomedct/715952000 property_value: exactMatch https://omim.org/phenotypicSeries/PS193500 property_value: exactMatch NCIT:C85222 property_value: exactMatch Orphanet:3440 property_value: excluded_subClassOf MONDO:0015368 property_value: excluded_subClassOf MONDO:0019290 {source="Orphanet:3440"} property_value: excluded_subClassOf MONDO:0020191 {source="Orphanet:3440"} property_value: excluded_subClassOf MONDO:0020276 {source="Orphanet:3440"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5682 xsd:anyURI [Term] id: MONDO:0018095 name: Weaver-Williams syndrome def: "Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977." [Orphanet:3448] subset: ordo_malformation_syndrome {source="Orphanet:3448"} xref: Orphanet:3448 {source="MONDO:equivalentTo"} xref: UMLS:CN204431 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:3448"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204431 property_value: exactMatch Orphanet:3448 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3448"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0018096 name: Weill-Marchesani syndrome def: "Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma." [Orphanet:3449] subset: ordo_malformation_syndrome {source="Orphanet:3449"} synonym: "congenital mesodermal dystrophy" EXACT [DOID:0050475] synonym: "Marchesani-Weill syndrome" EXACT [DOID:0050475] synonym: "mesodermal dysmorphodystrophy congenital" RELATED [GARD:0004936] synonym: "mesodermal Dysmorphodystrophy, congenital" EXACT [DOID:0050475] synonym: "spherophakia brachymorphia syndrome" EXACT [DOID:0050475] synonym: "spherophakia-brachymorphia syndrome" EXACT [Orphanet:3449] synonym: "WM syndrome" RELATED [GARD:0004936] synonym: "WMS" RELATED ABBREVIATION [GARD:0004936] xref: DOID:0050475 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10064963 {source="Orphanet:3449", source="Orphanet:3449/e"} xref: MESH:D056846 {source="DOID:0050475", source="MONDO:equivalentTo", source="Orphanet:3449", source="Orphanet:3449/e"} xref: NCIT:C85226 {source="DOID:0050475", source="MONDO:equivalentTo"} xref: OMIMPS:277600 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:3449 {source="DOID:0050475", source="MONDO:equivalentTo"} xref: SCTID:2884008 {source="DOID:0050475", source="MONDO:equivalentTo"} xref: UMLS:C0265313 {source="DOID:0050475", source="MONDO:equivalentTo", source="Orphanet:3449", source="NCIT:C85226", source="Orphanet:3449/e"} is_a: MONDO:0000429 {source="DOID:0050475"} ! autosomal genetic disease is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C85226"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:3449"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0019695 {source="Orphanet:3449", source="PMID:19396027"} ! acromelic dysplasia property_value: closeMatch http://identifiers.org/meddra/10064963 property_value: exactMatch DOID:0050475 property_value: exactMatch http://identifiers.org/mesh/D056846 property_value: exactMatch http://identifiers.org/snomedct/2884008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265313 property_value: exactMatch https://omim.org/phenotypicSeries/PS277600 property_value: exactMatch NCIT:C85226 property_value: exactMatch Orphanet:3449 property_value: excluded_subClassOf MONDO:0019066 {source="Orphanet:3449"} property_value: excluded_subClassOf MONDO:0020235 {source="Orphanet:3449"} [Term] id: MONDO:0018097 name: West syndrome def: "West syndrome (or infantile spasms) is characterized by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development." [Orphanet:3451] comment: Editor note: check placement of OMIM IDs and EIEE subtypes subset: ordo_clinical_syndrome {source="Orphanet:3451"} synonym: "infantile spasms" EXACT [Orphanet:3451] synonym: "Infantile spasms syndrome" RELATED [DOID:0050562] synonym: "intellectual disability-hypsarrhythmia syndrome" EXACT [Orphanet:3451] synonym: "tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia on EEG" RELATED [GARD:0007887] synonym: "West's syndrome" RELATED [GARD:0007887] synonym: "X-linked infantile spasm syndrome" RELATED [GARD:0007887] synonym: "X-linked infantile spasms" RELATED [GARD:0007887] xref: DOID:0050562 {source="MONDO:equivalentTo"} xref: ICD9:345.60 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:348.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10021750 {source="Orphanet:3451/e", source="Orphanet:3451"} xref: NCIT:C84788 {source="MONDO:equivalentTo"} xref: Orphanet:3451 {source="MONDO:equivalentTo"} xref: SCTID:28055006 {source="MONDO:equivalentTo"} xref: UMLS:C0037769 {source="NCIT:C84788", source="Orphanet:3451/e", source="MONDO:equivalentTo", source="Orphanet:3451"} is_a: MONDO:0000413 {source="DOID:0050562"} ! infancy electroclinical syndrome is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84788"} ! syndromic disease is_a: MONDO:0100022 {source="Orphanet:3451", source="https://orcid.org/0000-0001-8486-0558"} ! neonatal/infantile epilepsy syndrome property_value: closeMatch http://identifiers.org/meddra/10021750 property_value: exactMatch DOID:0050562 property_value: exactMatch http://identifiers.org/snomedct/28055006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037769 property_value: exactMatch NCIT:C84788 property_value: exactMatch Orphanet:3451 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:3451"} property_value: excluded_subClassOf MONDO:0015921 {source="Orphanet:3451"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0018098 name: autosomal dominant limb-girdle muscular dystrophy type 1E (DES) def: "Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult onset of progressive cardiac conduction defects that begin with cardiac dysrhythmia. Congestive heart failure and symptoms of progressive muscle weakness (present in a proximal distribution) tend to occur later. Affected patients may present only the cardiac features of the disease. Additional features include exertional dyspnea, calf hypertrophy, elevated creatine kinase serum levels and muscle cytoplasmic inclusions." [Orphanet:34517] comment: Terminology notes: See comments for LGMD1D subset: ordo_disease {source="Orphanet:34517"} synonym: "LGMD1E" EXACT ABBREVIATION [Orphanet:34517] synonym: "limb-girdle muscular dystrophy type 1E" RELATED [GARD:0012529] xref: DOID:0110305 {source="MONDO:relatedTo", source="MONDO:directSiblingOf"} xref: Orphanet:34517 {source="MONDO:equivalentObsolete"} xref: UMLS:C3148763 {source="OMIM:603511", source="MONDO:equivalentTo", source="Orphanet:34517"} is_a: MONDO:0015151 {source="Orphanet:34517"} ! muscular dystrophy, limb-girdle, autosomal dominant is_a: MONDO:0016187 {source="Orphanet:34517"} ! qualitative or quantitative defects of desmin property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3148763 [Term] id: MONDO:0018100 name: familial primary hypomagnesemia def: "A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration." [NCIT:C123263] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:34526"} synonym: "familial primary hypomagnesemia" EXACT [NCIT:C123263] synonym: "HOMG" EXACT ABBREVIATION [DOID:0060879] synonym: "hypomagnesemia" BROAD [OMIMPS:602014] synonym: "primary familial hypomagnesemia" EXACT [DOID:0060879] xref: DOID:0060879 {source="MONDO:equivalentTo"} xref: NCIT:C123263 {source="MONDO:equivalentTo"} xref: OMIMPS:602014 {source="MONDO:equivalentTo", source="DOID:0060879"} xref: Orphanet:34526 {source="MONDO:equivalentObsolete", source="DOID:0060879"} xref: SCTID:80710001 {source="MONDO:equivalentTo"} is_a: MONDO:0004689 {source="DOID:0060879"} ! inborn metal metabolism disorder is_a: MONDO:0015962 {source="Orphanet:34526"} ! inherited renal tubular disease is_a: MONDO:0017765 {source="Orphanet:34526"} ! disorder of magnesium transport property_value: exactMatch DOID:0060879 property_value: exactMatch http://identifiers.org/snomedct/80710001 property_value: exactMatch https://omim.org/phenotypicSeries/PS602014 property_value: exactMatch NCIT:C123263 [Term] id: MONDO:0018101 name: familial primary hypomagnesemia with normocalciuria and normocalcemia def: "Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay." [Orphanet:34527] subset: ordo_disease {source="Orphanet:34527"} xref: Orphanet:34527 {source="MONDO:equivalentObsolete"} xref: SCTID:725031005 {source="MONDO:equivalentTo"} xref: UMLS:C4510731 {source="MONDO:equivalentTo"} xref: UMLS:CN204443 {source="MONDO:equivalentTo"} is_a: MONDO:0017626 {source="Orphanet:34527"} ! familial primary hypomagnesemia with normocalcuria property_value: exactMatch http://identifiers.org/snomedct/725031005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510731 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204443 [Term] id: MONDO:0018102 name: corneal dystrophy def: "The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." [Orphanet:34533] comment: Editor note: NCIT distinguishes between acquired and genetic subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:34533"} synonym: "corneal dystrophy" EXACT [MONDO:ambiguous] synonym: "corneal dystrophy (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:2566 {source="MONDO:equivalentTo"} xref: HP:0001131 {source="MONDO:otherHierarchy"} xref: ICD9:371.5 {source="DOID:2566"} xref: ICD9:371.50 {source="DOID:2566"} xref: MedDRA:10011005 {source="Orphanet:34533", source="Orphanet:34533/e"} xref: MESH:D003317 {source="Orphanet:34533", source="MONDO:equivalentTo", source="DOID:2566", source="Orphanet:34533/e"} xref: NCIT:C34513 {source="MONDO:equivalentTo", source="DOID:2566"} xref: Orphanet:34533 {source="MONDO:equivalentTo"} xref: SCTID:5587004 {source="MONDO:equivalentTo", source="DOID:2566"} xref: UMLS:C0010036 {source="Orphanet:34533", source="MONDO:equivalentTo", source="DOID:2566", source="Orphanet:34533/e", source="NCIT:C34513"} is_a: EFO:0009464 {source="DOID:2566", source="MESH:D003317", source="NCIT:C34513/inferred"} ! corneal disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015107"} ! rare property_value: closeMatch http://identifiers.org/meddra/10011005 property_value: exactMatch DOID:2566 property_value: exactMatch http://identifiers.org/mesh/D003317 property_value: exactMatch http://identifiers.org/snomedct/5587004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010036 property_value: exactMatch NCIT:C34513 property_value: exactMatch Orphanet:34533 property_value: IAO:0000589 "corneal dystrophy (disease)" xsd:string [Term] id: MONDO:0018105 name: Wolfram syndrome def: "Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)." [Orphanet:3463] subset: ordo_disease {source="Orphanet:3463"} synonym: "diabetes insipidus, diabetes mellitus, optic atrophy, and deafness syndrome" EXACT [NCIT:C35133] synonym: "diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome" EXACT [Orphanet:3463] synonym: "diabetes mellitus and insipidus with optic atrophy and deafness" EXACT [DOID:10632] synonym: "DIDMOAD" EXACT ABBREVIATION [DOID:10632] synonym: "DIDMOAD syndrome" EXACT [Orphanet:3463] synonym: "WFS" EXACT ABBREVIATION [DOID:10632] synonym: "Wolfram syndrome" EXACT [] xref: DOID:10632 {source="MONDO:equivalentTo"} xref: ICD9:250.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D014929 {source="DOID:10632", source="Orphanet:3463", source="MONDO:equivalentTo", source="Orphanet:3463/e"} xref: NCIT:C35133 {source="DOID:10632", source="MONDO:equivalentTo"} xref: Orphanet:3463 {source="DOID:10632", source="MONDO:equivalentTo"} xref: SCTID:70694009 {source="DOID:10632", source="MONDO:equivalentTo"} xref: UMLS:C0043207 {source="DOID:10632", source="Orphanet:3463", source="NCIT:C35133", source="MONDO:equivalentTo", source="Orphanet:3463/e"} xref: UMLS:CN184630 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="DOID:10632", source="MONDO:Redundant", source="NCIT:C35133"} ! syndromic disease relationship: disease_has_feature MONDO:0005147 ! type 1 diabetes mellitus property_value: exactMatch DOID:10632 property_value: exactMatch http://identifiers.org/mesh/D014929 property_value: exactMatch http://identifiers.org/snomedct/70694009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043207 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN184630 property_value: exactMatch NCIT:C35133 property_value: exactMatch Orphanet:3463 [Term] id: MONDO:0018106 name: hereditary xanthinuria def: "Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis." [Orphanet:3467] subset: ordo_disease {source="Orphanet:3467"} synonym: "classic xanthinuria" EXACT [Orphanet:3467] synonym: "hereditary xanthinuria" EXACT [MONDO:patterns/hereditary] synonym: "xanthic urolithiasis" EXACT [Orphanet:3467] synonym: "xanthine dehydrogenase deficiency" EXACT [DOID:0060236] synonym: "xanthine stone disease" EXACT [Orphanet:3467] synonym: "xanthinuria" RELATED [DOID:0060236] xref: DOID:0060236 {source="MONDO:equivalentTo"} xref: HP:0010934 {source="MONDO:otherHierarchy", source="DOID:0060236"} xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIMPS:278300 {source="MONDO:equivalentTo"} xref: Orphanet:3467 {source="MONDO:equivalentTo", source="DOID:0060236"} xref: SCTID:54627004 {source="MONDO:equivalentTo"} is_a: MONDO:0000721 {source="MONDO:Redundant", source="MONDO:cjm"} ! xanthinuria is_a: MONDO:0019236 {source="Orphanet:3467"} ! inborn disorder of purine metabolism intersection_of: MONDO:0000721 ! xanthinuria intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch DOID:0060236 property_value: exactMatch http://identifiers.org/snomedct/54627004 property_value: exactMatch https://omim.org/phenotypicSeries/PS278300 property_value: exactMatch Orphanet:3467 property_value: excluded_subClassOf MONDO:0019743 {source="Orphanet:3467"} [Term] id: MONDO:0018109 name: fulminant viral hepatitis def: "Fulminant viral hepatitis is a rapid and severe impairment of liver functions (acute liver failure) with hepatic encephalopathy developing less than 8 weeks after the onset of jaundice, secondary to viral hepatitis mainly due to HBV, but also to HAV." [Orphanet:35063] subset: ordo_disease {source="Orphanet:35063"} xref: MedDRA:10019772 xref: Orphanet:35063 {source="MONDO:equivalentTo"} is_a: EFO:0001421 ! liver disease is_a: EFO:0009903 ! inflammatory disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015114"} ! rare property_value: exactMatch Orphanet:35063 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4614 xsd:anyURI [Term] id: MONDO:0018112 name: isolated scaphocephaly def: "Isolated scaphocephaly is a form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture." [Orphanet:35093] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: obsoletion_candidate subset: ordo_morphological_anomaly {source="Orphanet:35093"} synonym: "isolated dolichocephaly" EXACT [Orphanet:35093] synonym: "non-syndromic sagittal synostosis" EXACT [Orphanet:35093] xref: Orphanet:35093 {source="MONDO:equivalentTo"} is_a: MONDO:0015337 {source="Orphanet:35093"} ! isolated craniosynostosis property_value: exactMatch Orphanet:35093 property_value: excluded_subClassOf MONDO:0015368 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0018113 name: isolated plagiocephaly def: "Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry." [Orphanet:35098] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: obsoletion_candidate subset: ordo_morphological_anomaly {source="Orphanet:35098"} synonym: "non-syndromic unicoronal synostosis" EXACT [Orphanet:35098] synonym: "synostotic plagiocephaly" EXACT [Orphanet:35098] xref: Orphanet:35098 {source="MONDO:equivalentObsolete"} is_a: MONDO:0015337 {source="Orphanet:35098"} ! isolated craniosynostosis property_value: excluded_subClassOf MONDO:0015368 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0018114 name: isolated brachycephaly def: "Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges." [Orphanet:35099] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: obsoletion_candidate subset: ordo_morphological_anomaly {source="Orphanet:35099"} synonym: "non-syndromic bicoronal synostosis" EXACT [Orphanet:35099] xref: Orphanet:35099 {source="MONDO:equivalentTo"} is_a: MONDO:0015337 {source="Orphanet:35099"} ! isolated craniosynostosis property_value: exactMatch Orphanet:35099 property_value: excluded_subClassOf MONDO:0015368 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0018115 name: epidermal nevus syndrome def: "A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities." [MESH:D054000] subset: ordo_disease {source="Orphanet:35125"} synonym: "Epidermal hamartoma syndrome" EXACT [Orphanet:35125] xref: MedDRA:10014985 {source="Orphanet:35125/e", source="Orphanet:35125"} xref: Orphanet:35125 {source="MONDO:equivalentTo"} xref: SCTID:239112008 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0017414"} ! rare property_value: closeMatch http://identifiers.org/meddra/10014985 property_value: exactMatch http://identifiers.org/snomedct/239112008 property_value: exactMatch Orphanet:35125 property_value: excluded_subClassOf MONDO:0005073 {source="Orphanet:35125"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4222 xsd:anyURI [Term] id: MONDO:0018116 name: galactosemia def: "Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form." [Orphanet:352] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:352"} synonym: "galactosaemia" EXACT [DOID:9870] synonym: "galactose intolerance" EXACT [DOID:9870] synonym: "galactosemia" EXACT [MONDO:0004908] xref: DOID:9870 {source="MONDO:equivalentTo"} xref: ICD9:271.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9870"} xref: MedDRA:10017604 {source="Orphanet:352/e", source="Orphanet:352"} xref: MESH:D005693 {source="Orphanet:352/e", source="MONDO:equivalentTo", source="DOID:9870", source="Orphanet:352"} xref: NCIT:C84723 {source="MONDO:equivalentTo", source="DOID:9870"} xref: OMIMPS:230400 {source="MONDO:equivalentTo"} xref: Orphanet:352 {source="MONDO:equivalentTo"} xref: SCTID:190745006 {source="MONDO:equivalentTo", source="DOID:9870"} xref: SCTID:190749000 {source="MONDO:relatedTo", source="DOID:9870"} xref: UMLS:C0016952 {source="NCIT:C84723", source="Orphanet:352/e", source="MONDO:equivalentTo", source="DOID:9870", source="Orphanet:352"} is_a: EFO:0003966 ! eye disease is_a: MONDO:0017690 {source="Orphanet:352"} ! disorder of galactose metabolism relationship: disease_has_feature EFO:0000589 ! metabolic disease relationship: has_characteristic MONDO:0021136 ! rare property_value: closeMatch http://identifiers.org/meddra/10017604 property_value: exactMatch DOID:9870 property_value: exactMatch http://identifiers.org/mesh/D005693 property_value: exactMatch http://identifiers.org/snomedct/190745006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016952 property_value: exactMatch https://omim.org/phenotypicSeries/PS230400 property_value: exactMatch NCIT:C84723 property_value: exactMatch Orphanet:352 property_value: excluded_subClassOf MONDO:0019743 {source="Orphanet:352"} [Term] id: MONDO:0018117 name: disorder of phospholipids, sphingolipids and fatty acids biosynthesis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:352301"} xref: Orphanet:352301 {source="MONDO:equivalentTo"} xref: UMLS:CN227264 {source="MONDO:equivalentTo"} is_a: MONDO:0002525 {source="Orphanet:352301"} ! inherited lipid metabolism disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227264 property_value: exactMatch Orphanet:352301 [Term] id: MONDO:0018121 name: mitochondrial DNA maintenance syndrome def: "An inherited metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance." [MONDO:patterns/inborn_metabolic] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:352456"} synonym: "inborn error of mitochondrial genome maintenance" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn mitochondrial genome maintenance disorder" EXACT [] synonym: "mtDNA maintenance syndrome" EXACT [Orphanet:352456] synonym: "rare inborn error of mitochondrial genome maintenance" EXACT [MONDO:patterns/inborn_metabolic] xref: Orphanet:352456 {source="MONDO:equivalentTo"} xref: UMLS:CN204491 {source="MONDO:equivalentTo"} is_a: MONDO:0016387 {source="Orphanet:352456"} ! mitochondrial oxidative phosphorylation disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204491 property_value: exactMatch Orphanet:352456 [Term] id: MONDO:0018122 name: digital anomalies-intellectual disability-short stature syndrome subset: ordo_disease {source="Orphanet:352487"} xref: Orphanet:352487 {source="MONDO:equivalentObsolete"} xref: UMLS:CN204494 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204494 property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:352487"} [Term] id: MONDO:0018123 name: intellectual disability-obesity-brain malformations-facial dysmorphism syndrome def: "Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features." [Orphanet:352530] subset: ordo_disease {source="Orphanet:352530"} synonym: "autosomal recessive intellectual disability due to TRAPPC9 deficiency" EXACT [Orphanet:352530] synonym: "intellectual disability-obesity-brain malformations-facial dysmorphism syndrome" EXACT [] xref: Orphanet:352530 {source="MONDO:equivalentTo"} xref: UMLS:CN204496 {source="MONDO:equivalentTo"} is_a: MONDO:0016565 {source="Orphanet:352530"} ! syndromic genetic obesity property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204496 property_value: exactMatch Orphanet:352530 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:352530", source="https://clinicalgenome.org/affiliation/40060/"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0018125 name: focal epilepsy-intellectual disability-cerebro-cerebellar malformation def: "Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistance into adult life is observed." [Orphanet:352587] subset: ordo_disease {source="Orphanet:352587"} synonym: "focal epilepsy-intellectual disability-dysarthria-ataxia syndrome" EXACT [Orphanet:352587] xref: Orphanet:352587 {source="MONDO:equivalentTo"} xref: UMLS:CN204502 {source="MONDO:equivalentTo"} is_a: MONDO:0015653 {source="Orphanet:352587"} ! monogenic epilepsy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204502 property_value: exactMatch Orphanet:352587 [Term] id: MONDO:0018126 name: progressive myoclonic epilepsy with dystonia def: "A rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli." [Orphanet:352596] subset: ordo_disease {source="Orphanet:352596"} synonym: "PMED" EXACT ABBREVIATION [Orphanet:352596] synonym: "progressive myoclonus epilepsy with dystonia" EXACT [Orphanet:352596] xref: Orphanet:352596 {source="MONDO:equivalentTo"} xref: SCTID:763349002 {source="MONDO:equivalentTo"} is_a: MONDO:0020071 {source="Orphanet:352596"} ! infantile epilepsy syndrome property_value: exactMatch http://identifiers.org/snomedct/763349002 property_value: exactMatch Orphanet:352596 [Term] id: MONDO:0018127 name: 16q24.1 microdeletion syndrome def: "16q24.1 microdeletion syndrome is a partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects)." [Orphanet:352629] subset: ordo_disease {source="Orphanet:352629"} synonym: "Del(16)(q24.1)" EXACT [Orphanet:352629] synonym: "monosomy 16q24.1" EXACT [Orphanet:352629] xref: Orphanet:352629 {source="MONDO:equivalentTo"} xref: UMLS:CN204505 {source="MONDO:equivalentTo"} is_a: EFO:0000684 {source="MONDO:Redundant", source="Orphanet:352629", source="Orphanet:352629/inferred"} ! respiratory system disease is_a: MONDO:0016914 {source="Orphanet:352629"} ! partial deletion of the long arm of chromosome 16 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204505 property_value: exactMatch Orphanet:352629 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0018128 name: phalangeal microgeodic syndrome def: "Phalangeal microgeodic syndrome is a rare primary osteolysis characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure." [Orphanet:352636] subset: ordo_disease {source="Orphanet:352636"} synonym: "phalangeal osteolysis" EXACT [Orphanet:352636] xref: Orphanet:352636 {source="MONDO:equivalentTo"} xref: UMLS:CN204506 {source="MONDO:equivalentTo"} is_a: MONDO:0019707 {source="Orphanet:352636"} ! primary osteolysis property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204506 property_value: exactMatch Orphanet:352636 [Term] id: MONDO:0018129 name: autosomal recessive cerebellar ataxia with late-onset spasticity def: "Autosomal recessive cerebellar ataxia with late-onset spasticity is a rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated." [Orphanet:352641] subset: ordo_disease {source="Orphanet:352641"} synonym: "autosomal recessive cerebellar ataxia due to GBA2 deficiency" EXACT [Orphanet:352641] xref: Orphanet:352641 {source="MONDO:equivalentTo"} xref: SCTID:763348005 {source="MONDO:equivalentTo"} xref: UMLS:CN204507 {source="MONDO:equivalentTo"} is_a: MONDO:0019255 {source="Orphanet:352641"} ! sphingolipidosis is_a: MONDO:0020044 {source="Orphanet:352641"} ! autosomal recessive metabolic cerebellar ataxia property_value: exactMatch http://identifiers.org/snomedct/763348005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204507 property_value: exactMatch Orphanet:352641 [Term] id: MONDO:0018130 name: brain dopamine-serotonin vesicular transport disease def: "Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances." [Orphanet:352649] subset: ordo_disease {source="Orphanet:352649"} xref: Orphanet:352649 {source="MONDO:equivalentTo"} xref: SCTID:717942003 {source="MONDO:equivalentTo"} xref: UMLS:C4303546 {source="MONDO:equivalentTo"} xref: UMLS:CN204508 {source="MONDO:equivalentTo"} is_a: MONDO:0019219 {source="Orphanet:352649", source="https://orcid.org/0000-0001-5208-3432"} ! inborn disorder of neurotransmitter metabolism and transport property_value: exactMatch http://identifiers.org/snomedct/717942003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303546 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204508 property_value: exactMatch Orphanet:352649 property_value: excluded_subClassOf MONDO:0018329 {source="Orphanet:352649"} [Term] id: MONDO:0018131 name: neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion subset: ordo_etiological_subtype {source="Orphanet:352665"} synonym: "9q21 microdeletion syndrome" EXACT [Orphanet:352665] synonym: "Del(9)(q21)" EXACT [Orphanet:352665] xref: Orphanet:352665 {source="MONDO:equivalentTo"} xref: UMLS:CN204512 {source="MONDO:equivalentTo"} is_a: MONDO:0016908 {source="Orphanet:352665"} ! partial monosomy of the long arm of chromosome 9 is_a: MONDO:0018681 {source="Orphanet:352665"} ! neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204512 property_value: exactMatch Orphanet:352665 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0018133 name: attenuated Chédiak-Higashi syndrome def: "Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS, a genetic disorder characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder." [Orphanet:352723] subset: ordo_disease {source="Orphanet:352723"} synonym: "attenuated Chediak-Higashi syndrome" EXACT [Orphanet:352723] synonym: "atypical Chediak-Higashi syndrome" EXACT [Orphanet:352723] synonym: "atypical Chédiak-Higashi syndrome" EXACT [Orphanet:352723] xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:352723/attributed", source="Orphanet:352723/ntbt", source="Orphanet:352723"} xref: Orphanet:352723 {source="MONDO:equivalentTo"} xref: SCTID:720520009 {source="MONDO:equivalentTo"} xref: UMLS:C4304022 {source="MONDO:equivalentTo"} xref: UMLS:CN204519 {source="MONDO:equivalentTo"} is_a: MONDO:0020127 {source="MONDO:0016132-obsoleted"} ! hereditary peripheral neuropathy is_a: MONDO:0024237 {source="Orphanet:352723"} ! inherited neurodegenerative disorder property_value: exactMatch http://identifiers.org/snomedct/720520009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304022 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204519 property_value: exactMatch Orphanet:352723 [Term] id: MONDO:0018134 name: disorder of melanin metabolism subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:352728"} xref: Orphanet:352728 {source="MONDO:equivalentTo"} xref: UMLS:CN227269 {source="MONDO:equivalentTo"} is_a: MONDO:0019189 {source="Orphanet:352728"} ! inborn disorder of amino acid and other organic acid metabolism property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227269 property_value: exactMatch Orphanet:352728 [Term] id: MONDO:0018135 name: oculocutaneous albinism type 1 def: "Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS)." [Orphanet:352731] subset: ordo_disease {source="Orphanet:352731"} synonym: "ATN" RELATED ABBREVIATION [GARD:0004037] synonym: "OCA1" EXACT ABBREVIATION [Orphanet:352731] synonym: "oculocutaneous albinism type 1" EXACT [] synonym: "oculocutaneous albinism, tyrosinase negative" RELATED [GARD:0004037] xref: MESH:C537728 {source="MONDO:equivalentTo"} xref: Orphanet:352731 {source="MONDO:equivalentTo"} xref: SCTID:765146000 {source="MONDO:equivalentTo"} xref: UMLS:CN119529 {source="MONDO:equivalentTo"} is_a: MONDO:0017307 {source="PMID:33340416"} ! disorder of tyrosine metabolism is_a: MONDO:0018910 {source="Orphanet:352731"} ! oculocutaneous albinism property_value: exactMatch http://identifiers.org/mesh/C537728 property_value: exactMatch http://identifiers.org/snomedct/765146000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN119529 property_value: exactMatch Orphanet:352731 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0018136 name: minimal pigment oculocutaneous albinism type 1 def: "Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi." [Orphanet:352734] subset: ordo_clinical_subtype {source="Orphanet:352734"} synonym: "MP OCA type 1" EXACT [Orphanet:352734] synonym: "OCA1-MP" EXACT [Orphanet:352734] xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:352734 {source="MONDO:equivalentTo"} xref: SCTID:237919007 {source="MONDO:equivalentTo"} xref: UMLS:CN204521 {source="MONDO:equivalentTo"} is_a: MONDO:0018135 {source="Orphanet:352734"} ! oculocutaneous albinism type 1 property_value: exactMatch http://identifiers.org/snomedct/237919007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204521 property_value: exactMatch Orphanet:352734 [Term] id: MONDO:0018137 name: temperature-sensitive oculocutaneous albinism type 1 def: "Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)." [Orphanet:352737] subset: ordo_clinical_subtype {source="Orphanet:352737"} synonym: "OCA1-TS" EXACT [Orphanet:352737] synonym: "TS OCA type 1" EXACT [Orphanet:352737] xref: Orphanet:352737 {source="MONDO:equivalentTo"} xref: UMLS:C1847132 {source="MONDO:equivalentTo", source="Orphanet:352737"} is_a: MONDO:0018135 {source="Orphanet:352737"} ! oculocutaneous albinism type 1 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847132 property_value: exactMatch Orphanet:352737 [Term] id: MONDO:0018138 name: obsolete ocular albinism with congenital sensorineural hearing loss subset: ordo_disease {source="Orphanet:352740"} synonym: "albinism, ocular, with sensorineural deafness" NARROW [OMIM:103470] synonym: "autosomal recessive Waardenburg syndrome type 2 with ocular albinism" EXACT [DOID:0090100] synonym: "digenic Waardenburg syndrome/albinism" EXACT [DOID:0090100] synonym: "digenic Waardenburg syndrome/ocular albinism" EXACT [DOID:0090100] synonym: "ocular albinism with congenital sensorineural deafness" NARROW [Orphanet:352740] synonym: "ocular albinism with sensorineural deafness" NARROW [MONDO:0007076] synonym: "Waardenburg syndrome type 2 with ocular albinism" EXACT [Orphanet:352740] synonym: "Waardenburg syndrome, type 2, with ocular albinism, autosomal recessive" RELATED [OMIM:103470] synonym: "Waardenburg syndrome/albinism, digenic" EXACT [OMIM:103470, OMIM:genemap2] synonym: "Waardenburg syndrome/ocular albinism, digenic" EXACT [OMIM:103470, OMIM:genemap2] synonym: "WS2-OA" EXACT [DOID:0090100] xref: DOID:0090100 {source="MONDO:obsoleteEquivalent"} xref: OMIM:103470 {source="DOID:0090100", source="Orphanet:352740", source="Orphanet:352740/e", source="MONDO:obsoleteEquivalentObsolete"} xref: Orphanet:352740 {source="OMIM:103470", source="DOID:0090100", source="MONDO:obsoleteEquivalentObsolete"} xref: UMLS:C1863198 {source="OMIM:103470", source="MONDO:obsoleteEquivalent", source="MONDO:ncbi_mim2gene_medline"} property_value: exactMatch DOID:0090100 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863198 property_value: exactMatch https://omim.org/entry/103470 property_value: exactMatch Orphanet:352740 property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4581 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/551 xsd:anyURI is_obsolete: true consider: MONDO:0008671 consider: MONDO:0011749 [Term] id: MONDO:0018141 name: pyruvate carboxylase deficiency, infantile form def: "Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course." [Orphanet:353308] subset: ordo_clinical_subtype {source="Orphanet:353308"} synonym: "pyruvate carboxylase deficiency type A" EXACT [Orphanet:353308] synonym: "pyruvate carboxylase deficiency, infantile type" RELATED [Orphanet:353308] xref: Orphanet:353308 {source="MONDO:equivalentTo"} xref: UMLS:CN204538 {source="MONDO:equivalentTo"} is_a: EFO:1001142 {source="Orphanet:353308"} ! pyruvate carboxylase deficiency disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204538 property_value: exactMatch Orphanet:353308 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0018142 name: pyruvate carboxylase deficiency, severe neonatal type def: "Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy." [Orphanet:353314] subset: ordo_clinical_subtype {source="Orphanet:353314"} synonym: "pyruvate carboxylase deficiency type B" EXACT [Orphanet:353314] xref: Orphanet:353314 {source="MONDO:equivalentTo"} xref: UMLS:CN204539 {source="MONDO:equivalentTo"} is_a: EFO:1001142 {source="Orphanet:353314"} ! pyruvate carboxylase deficiency disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204539 property_value: exactMatch Orphanet:353314 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0018143 name: pyruvate carboxylase deficiency, benign type def: "Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development." [Orphanet:353320] subset: ordo_clinical_subtype {source="Orphanet:353320"} synonym: "pyruvate carboxylase deficiency type C" EXACT [Orphanet:353320] xref: Orphanet:353320 {source="MONDO:equivalentTo"} xref: UMLS:CN204540 {source="MONDO:equivalentTo"} is_a: EFO:1001142 {source="Orphanet:353320"} ! pyruvate carboxylase deficiency disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204540 property_value: exactMatch Orphanet:353320 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0018144 name: congenital myasthenic syndromes with glycosylation defect comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: obsoletion_candidate subset: ordo_etiological_subtype {source="Orphanet:353327"} xref: Orphanet:353327 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0017740 {source="Orphanet:353327"} ! disorder of protein N-glycosylation is_a: MONDO:0018940 {source="Orphanet:353327"} ! congenital myasthenic syndrome property_value: exactMatch Orphanet:353327 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0018149 name: GM1 gangliosidosis def: "A rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." [Orphanet:354] subset: ordo_disease {source="Orphanet:354"} synonym: "Beta galactosidase 1 deficiency" RELATED [GARD:0010891] synonym: "Beta-galactosidase deficiency" EXACT [DOID:3322] synonym: "beta-galactosidase deficiency" EXACT [DOID:3322] synonym: "Beta-galactosidase-1 deficiency" EXACT [Orphanet:354] synonym: "Beta-galactosidosis" RELATED [GARD:0010891] synonym: "deficiency of beta-galactosidase" EXACT [DOID:3322] synonym: "gangliosidosis GM1" EXACT [MONDO:0002609] synonym: "GLB 1 deficiency" RELATED [GARD:0010891] synonym: "GLB1 deficiency" EXACT [Orphanet:354] synonym: "GM>1< gangliosidosis" EXACT [DOID:3322] synonym: "Landing disease" EXACT [Orphanet:354] synonym: "Landing syndrome" EXACT [DOID:3322] xref: DOID:3322 {source="MONDO:equivalentTo"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D016537 {source="DOID:3322", source="Orphanet:354/e", source="MONDO:equivalentTo", source="Orphanet:354"} xref: NCIT:C84739 {source="DOID:3322", source="MONDO:equivalentTo"} xref: Orphanet:354 {source="MONDO:equivalentTo"} xref: SCTID:124465002 {source="MONDO:equivalentTo"} xref: UMLS:C0085131 {source="DOID:3322", source="Orphanet:354/e", source="MONDO:equivalentTo", source="NCIT:C84739", source="Orphanet:354"} is_a: EFO:0003966 ! eye disease is_a: EFO:0004260 ! bone disease is_a: MONDO:0017719 {source="DOID:3322", source="Orphanet:354"} ! gangliosidosis relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch DOID:3322 property_value: exactMatch http://identifiers.org/mesh/D016537 property_value: exactMatch http://identifiers.org/snomedct/124465002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085131 property_value: exactMatch NCIT:C84739 property_value: exactMatch Orphanet:354 property_value: excluded_subClassOf MONDO:0015368 {source="MONDO:0020262-obsoleted"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/pull/2571/ xsd:anyURI [Term] id: MONDO:0018150 name: Gaucher disease def: "Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease)." [Orphanet:355] subset: ordo_disease {source="Orphanet:355"} synonym: "acid beta-glucosidase deficiency" EXACT [DOID:1926, Orphanet:355] synonym: "acute cerebral Gaucher disease" NARROW [GARD:0008233] synonym: "cerebroside lipidosis syndrome" RELATED [] synonym: "Gaucher disease" EXACT [DOID:1926] synonym: "Gaucher splenomegaly" RELATED [] synonym: "Gaucher syndrome" EXACT [] synonym: "Gaucher's disease" EXACT [DOID:1926] synonym: "glocucerebrosidase deficiency" EXACT [DOID:1926] synonym: "glucocerebrosidase deficiency" EXACT [Orphanet:355] synonym: "glucocerebrosidosis" EXACT [] synonym: "glucosyl cerebroside lipidosis" RELATED [GARD:0008233] synonym: "glucosylceramidase deficiency" EXACT [] synonym: "glucosylceramide beta-glucosidase deficiency" EXACT [DOID:1926] synonym: "kerasin histiocytosis" RELATED [] synonym: "kerasin lipoidosis" RELATED [] synonym: "kerasin thesaurismosis" EXACT [DOID:1926] synonym: "lipoid histiocytosis (kerasin type)" EXACT [DOID:1926] synonym: "sphingolipidosis 1" RELATED [GARD:0008233] xref: DOID:1926 {source="MONDO:equivalentTo"} xref: ICD10CM:E75.22 {source="MONDO:equivalentTo", source="DOID:1926"} xref: MedDRA:10018048 {source="Orphanet:355/e", source="Orphanet:355"} xref: MESH:D005776 {source="Orphanet:355/e", source="MONDO:equivalentTo", source="DOID:1926", source="Orphanet:355"} xref: NCIT:C61268 {source="MONDO:equivalentTo", source="DOID:1926"} xref: Orphanet:355 {source="MONDO:equivalentTo", source="DOID:1926"} xref: SCTID:190794006 {source="MONDO:equivalentTo", source="DOID:1926"} xref: UMLS:C0017205 {source="Orphanet:355/e", source="MONDO:equivalentTo", source="DOID:1926", source="NCIT:C61268", source="Orphanet:355"} is_a: EFO:0003966 ! eye disease is_a: MONDO:0019255 {source="DOID:1926", source="MESH:D005776", source="NCIT:C61268", source="Orphanet:355"} ! sphingolipidosis relationship: has_characteristic MONDO:0021136 ! rare property_value: closeMatch http://identifiers.org/meddra/10018048 property_value: exactMatch DOID:1926 property_value: exactMatch http://identifiers.org/mesh/D005776 property_value: exactMatch http://identifiers.org/snomedct/190794006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017205 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E75.22 property_value: exactMatch NCIT:C61268 property_value: exactMatch Orphanet:355 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0018151 name: coenzyme Q10 deficiency def: "A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency." [NCIT:C142083] subset: disease_grouping subset: gard_rare {source="GARD:0010423"} subset: ordo_group_of_disorders {source="Orphanet:35656"} synonym: "coenzyme Q10 deficiency disease" EXACT [MONDO:0000423] synonym: "coenzyme Q10 deficiency, primary" EXACT [DOID:0050730] synonym: "CoQ10 deficiency" EXACT [Orphanet:35656] synonym: "CoQ10 deficiency, primary" RELATED [GARD:0010423] xref: DOID:0050730 {source="MONDO:equivalentTo"} xref: MESH:C564403 {source="MONDO:equivalentTo"} xref: NCIT:C142083 {source="MONDO:equivalentTo"} xref: OMIMPS:607426 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:35656 {source="MONDO:equivalentTo"} xref: SCTID:724575009 {source="MONDO:equivalentTo"} xref: UMLS:C1843920 {source="Orphanet:35656", source="MONDO:equivalentTo"} xref: UMLS:CN229570 {source="MONDO:equivalentTo"} is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0020127 ! hereditary peripheral neuropathy property_value: exactMatch DOID:0050730 property_value: exactMatch http://identifiers.org/mesh/C564403 property_value: exactMatch http://identifiers.org/snomedct/724575009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843920 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229570 property_value: exactMatch https://omim.org/phenotypicSeries/PS607426 property_value: exactMatch NCIT:C142083 property_value: exactMatch Orphanet:35656 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10423/coenzyme-q10-deficiency xsd:anyURI {source="GARD:0010423"} [Term] id: MONDO:0018154 name: Madelung deformity def: "Madelung disease, or deformity (MD) is a predominantly bilateral wrist anomaly characterized by shortened and bowed radii and long ulnae leading to dorsal dislocation of the distal ulna and limited mobility of the wrist and elbow." [Orphanet:35688] subset: ordo_morphological_anomaly {source="Orphanet:35688"} xref: ICD9:755.54 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10007700 {source="Orphanet:35688", source="Orphanet:35688/e"} xref: MESH:C562398 {source="MONDO:equivalentTo"} xref: Orphanet:35688 {source="MONDO:equivalentObsolete"} xref: SCTID:4530000 {source="MONDO:equivalentTo"} is_a: MONDO:0007481 ! Leri-Weill dyschondrosteosis is_a: MONDO:0017429 {source="Orphanet:35688"} ! joint formation defects property_value: closeMatch http://identifiers.org/meddra/10007700 property_value: exactMatch http://identifiers.org/mesh/C562398 property_value: exactMatch http://identifiers.org/snomedct/4530000 [Term] id: MONDO:0018155 name: lateral sclerosis def: "Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production." [Orphanet:35689] subset: ordo_disease {source="Orphanet:35689"} synonym: "adult-onset PLS" EXACT [Orphanet:35689] synonym: "adult-onset primary lateral sclerosis" EXACT [DOID:230, Orphanet:35689] synonym: "PLS" EXACT ABBREVIATION [Orphanet:35689] synonym: "primary lateral sclerosis" EXACT [DOID:230, ICD9CM:335.24] xref: DOID:230 {source="MONDO:equivalentTo"} xref: ICD9:335.24 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:230"} xref: MedDRA:10036704 {source="Orphanet:35689", source="Orphanet:35689/e"} xref: NCIT:C129933 {source="MONDO:equivalentTo"} xref: Orphanet:35689 {source="MONDO:equivalentTo", source="DOID:230"} xref: SCTID:81211007 {source="MONDO:equivalentTo", source="DOID:230"} xref: UMLS:C0154682 {source="Orphanet:35689", source="MONDO:equivalentTo", source="DOID:230"} is_a: MONDO:0024257 ! hereditary motor neuron disease property_value: closeMatch http://identifiers.org/meddra/10036704 property_value: exactMatch DOID:230 property_value: exactMatch http://identifiers.org/snomedct/81211007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154682 property_value: exactMatch NCIT:C129933 property_value: exactMatch Orphanet:35689 [Term] id: MONDO:0018156 name: 3q26q27 microdeletion syndrome subset: ordo_malformation_syndrome {source="Orphanet:356947"} synonym: "3q26-q27microdeletion syndrome" EXACT [Orphanet:356947] synonym: "Del(3)(q26q27)" EXACT [Orphanet:356947] synonym: "monosomy 3q26-q27" EXACT [Orphanet:356947] synonym: "monosomy 3q26q27" EXACT [Orphanet:356947] xref: Orphanet:356947 {source="MONDO:equivalentTo"} xref: UMLS:CN204590 {source="MONDO:equivalentTo"} is_a: MONDO:0016902 {source="Orphanet:356947"} ! partial deletion of the long arm of chromosome 3 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204590 property_value: exactMatch Orphanet:356947 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0018158 name: mitochondrial DNA depletion syndrome def: "The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome." [Orphanet:35698] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:35698"} synonym: "mtDNA depletion syndrome" EXACT [Orphanet:35698] xref: DOID:0070329 {source="MONDO:equivalentTo"} xref: MedDRA:10059396 {source="Orphanet:35698/e", source="Orphanet:35698"} xref: OMIMPS:603041 {source="MONDO:equivalentTo"} xref: Orphanet:35698 {source="MONDO:equivalentTo"} xref: UMLS:CN239350 {source="MONDO:equivalentTo"} is_a: MONDO:0016387 {source="Orphanet:35698", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial oxidative phosphorylation disorder property_value: closeMatch http://identifiers.org/meddra/10059396 property_value: exactMatch DOID:0070329 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239350 property_value: exactMatch https://omim.org/phenotypicSeries/PS603041 property_value: exactMatch Orphanet:35698 property_value: excluded_subClassOf MONDO:0015188 {source="Orphanet:35698"} [Term] id: MONDO:0018159 name: atypical hemolytic-uremic syndrome with DGKE deficiency subset: ordo_etiological_subtype {source="Orphanet:357008"} synonym: "aHUS with DGKE deficiency" EXACT [Orphanet:357008] synonym: "atypical HUS with DGKE deficiency" EXACT [Orphanet:357008] synonym: "D-HUS with DGKE deficiency" EXACT [Orphanet:357008] synonym: "hemolytic-uremic syndrome without diarrhea with DGKE deficiency" EXACT [Orphanet:357008] synonym: "hemolytic-uremic syndrome without diarrhoea with DGKE deficiency" EXACT OMO:0003005 [] xref: DOID:0080388 {source="MONDO:equivalentTo"} xref: Orphanet:357008 {source="MONDO:equivalentTo"} xref: UMLS:CN204596 {source="MONDO:equivalentTo"} is_a: MONDO:0016244 {source="Orphanet:357008"} ! atypical hemolytic-uremic syndrome property_value: exactMatch DOID:0080388 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204596 property_value: exactMatch Orphanet:357008 [Term] id: MONDO:0018160 name: hereditary retinoblastoma def: "An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma." [NCIT:C8495] subset: ordo_clinical_subtype {source="Orphanet:357027"} synonym: "familial retinoblastoma" EXACT [MONDO:0003074] synonym: "hereditary retinoblastoma" EXACT [DOID:4648, MONDO:patterns/hereditary, NCIT:C8495] synonym: "RB1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:180200] synonym: "retinoblastoma, autosomal dominant, somatic mutation" EXACT [OMIM:180200, OMIM:genemap2] synonym: "retinoblastoma, trilateral, autosomal dominant, somatic mutation" EXACT [OMIM:180200, OMIM:genemap2] xref: DOID:4648 {source="MONDO:equivalentTo"} xref: NCIT:C8495 {source="MONDO:equivalentTo", source="DOID:4648"} xref: OMIM:180200 {source="Orphanet:357027", source="MONDO:equivalentTo"} xref: Orphanet:357027 {source="MONDO:equivalentTo"} is_a: MONDO:0008380 {source="DOID:4648", source="MONDO:Redundant", source="NCIT:C8495", source="Orphanet:357027"} ! retinoblastoma is_a: MONDO:0015356 {source="Orphanet:357027"} ! hereditary neoplastic syndrome intersection_of: MONDO:0008380 ! retinoblastoma intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch DOID:4648 property_value: exactMatch https://omim.org/entry/180200 property_value: exactMatch NCIT:C8495 property_value: exactMatch Orphanet:357027 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2760#issuecomment-894549526 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0018162 name: neurometabolic disorder due to serine deficiency def: "Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency." [Orphanet:35705] comment: This term was considered for obsoletion, but it is used by ClinGen and they requested we keep it. subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:35705"} synonym: "neurometabolic disorder due to serine deficiency" EXACT [] synonym: "serine deficiency" EXACT [Orphanet:35705] xref: Orphanet:35705 {source="MONDO:equivalentTo"} xref: UMLS:CN227274 {source="MONDO:equivalentTo"} is_a: MONDO:0000421 ! inborn serine deficiency property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227274 property_value: exactMatch Orphanet:35705 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3886#issuecomment-993772000 xsd:anyURI consider: MONDO:0019058 [Term] id: MONDO:0018163 name: autosomal recessive cutis laxa type 2A def: "An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24." [DOID:0070134] subset: ordo_disease {source="Orphanet:357058"} synonym: "ARCL2A" EXACT ABBREVIATION [DOID:0070134, OMIM:219200, Orphanet:357058] synonym: "autosomal recessive cutis laxa type 2A" EXACT [] synonym: "autosomal recessive cutis laxa type IIA" EXACT [DOID:0070134] synonym: "cutis laxa with bone dystrophy" EXACT [OMIM:219200] synonym: "cutis laxa with congenital disorder of glycosylation" EXACT [OMIM:219200] synonym: "cutis laxa with growth and developmental delay" EXACT [OMIM:219200] synonym: "cutis laxa with Joint laxity and retarded development" EXACT [OMIM:219200] synonym: "cutis laxa, autosomal recessive type 2A" EXACT [GARD:0001638] synonym: "cutis laxa, autosomal recessive, type 2A" EXACT [OMIM:219200] synonym: "cutis laxa, autosomal recessive, type IIA" EXACT [MONDO:Lexical, OMIM:219200] synonym: "cutis laxa, debre type" EXACT [OMIM:219200] xref: DOID:0070134 {source="MONDO:equivalentTo"} xref: OMIM:219200 {source="Orphanet:357058", source="Orphanet:357058/btnt", source="DOID:0070134", source="MONDO:equivalentTo"} xref: Orphanet:357058 {source="MONDO:equivalentTo"} is_a: MONDO:0019573 {source="Orphanet:357058"} ! autosomal recessive cutis laxa type 2 is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. property_value: exactMatch DOID:0070134 property_value: exactMatch https://omim.org/entry/219200 property_value: exactMatch Orphanet:357058 property_value: excluded_subClassOf MONDO:0005066 property_value: excluded_subClassOf MONDO:0015286 property_value: excluded_subClassOf MONDO:0017752 {source="Orphanet:357058"} property_value: excluded_subClassOf MONDO:0018292 {source="Orphanet:357058"} property_value: excluded_subClassOf MONDO:0019058 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5048 xsd:anyURI [Term] id: MONDO:0018168 name: primary non-essential cutis verticis gyrata subset: ordo_disease {source="Orphanet:357225"} xref: Orphanet:357225 {source="MONDO:equivalentTo"} xref: UMLS:CN204616 {source="MONDO:equivalentTo"} is_a: MONDO:0019033 {source="Orphanet:357225"} ! primary cutis verticis gyrata relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204616 property_value: exactMatch Orphanet:357225 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:357225"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0018169 name: morning glory syndrome def: "Morning glory syndrome (MGS) is an optic neuropathy characterized by a congenital funnel shaped excavation of the posterior fundus that incorporates the optic disk malformation (resembling the morning glory flower) MGS is usually unilateral and may result in a decrease in best-corrected visual acuity (BCVA). MGS either occurs isolated or associated to other ocular or non-ocular anomalies." [Orphanet:35737] subset: gard_rare {source="GARD:0013354"} subset: ordo_morphological_anomaly {source="Orphanet:35737"} synonym: "Ectasic coloboma" EXACT [Orphanet:35737] synonym: "Volubilis syndrome" EXACT [Orphanet:35737] xref: MedDRA:10027974 {source="Orphanet:35737", source="Orphanet:35737/e"} xref: Orphanet:35737 {source="MONDO:equivalentTo"} xref: UMLS:C0549307 {source="Orphanet:35737", source="MONDO:equivalentTo", source="Orphanet:35737/e"} is_a: MONDO:0007354 ! coloboma of optic nerve is_a: MONDO:0020145 {source="MONDO:0020149-obsoleted"} ! developmental defect of the eye is_a: MONDO:0020249 {source="Orphanet:35737"} ! hereditary optic neuropathy property_value: closeMatch http://identifiers.org/meddra/10027974 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0549307 property_value: exactMatch Orphanet:35737 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13354/morning-glory-syndrome xsd:anyURI {source="GARD:0013354"} [Term] id: MONDO:0018170 name: idiopathic nephrotic syndrome def: "Nephrotic syndrome for which no cause has been identified." [NCIT:C122796] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:357502"} xref: NCIT:C122796 {source="MONDO:equivalentTo"} xref: Orphanet:357502 {source="MONDO:equivalentTo"} xref: UMLS:C3496337 {source="Orphanet:357502", source="MONDO:equivalentTo", source="NCIT:C122796"} is_a: EFO:0004255 {source="MONDO:cjm", source="NCIT:C122796"} ! nephrotic syndrome is_a: MONDO:0700007 ! idiopathic disease intersection_of: EFO:0004255 ! nephrotic syndrome intersection_of: has_characteristic MONDO:0700005 ! idiopathic property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3496337 property_value: exactMatch NCIT:C122796 property_value: exactMatch Orphanet:357502 [Term] id: MONDO:0018171 name: malignant germ cell tumor of ovary def: "Malignant germ cell tumor of ovary is a rare ovarian cancer arising from germ cells in the ovary, frequently unilateral at diagnosis which characteristically presents during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen." [Orphanet:35807] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:35807"} synonym: "malignant germ cell neoplasm of ovary" EXACT [NCIT:C4514] synonym: "malignant germ cell neoplasm of the ovary" EXACT [NCIT:C4514] synonym: "malignant germ cell tumor of ovary" EXACT [NCIT:C4514] synonym: "malignant germ cell tumor of the ovary" EXACT [NCIT:C4514] synonym: "malignant germ cell tumour of the ovary" EXACT OMO:0003005 [] synonym: "malignant ovarian germ cell neoplasm" EXACT [MONDO:0002231, NCIT:C4514] synonym: "malignant ovarian germ cell tumor" EXACT [DOID:2155, NCIT:C4514, Orphanet:35807] synonym: "malignant ovarian germ cell tumour" EXACT OMO:0003005 [] synonym: "MOGCT" EXACT ABBREVIATION [Orphanet:35807] synonym: "ovarian germ cell cancer" EXACT [NCIT:C4514, Orphanet:35807] synonym: "ovary malignant germ cell tumor" EXACT [MONDO:patterns/location] synonym: "ovary malignant germ cell tumour" EXACT OMO:0003005 [] xref: DOID:2155 {source="MONDO:equivalentTo"} xref: NCIT:C4514 {source="DOID:2155", source="MONDO:equivalentTo"} xref: Orphanet:35807 {source="MONDO:equivalentTo"} xref: SCTID:254869000 {source="DOID:2155", source="MONDO:equivalentTo"} xref: UMLS:C0346180 {source="DOID:2155", source="MONDO:equivalentTo", source="Orphanet:35807", source="NCIT:C4514"} is_a: EFO:1000352 {source="MONDO:Redundant", source="NCIT:C4514"} ! Malignant Germ Cell Tumor is_a: EFO:1000419 {source="DOID:2155", source="MONDO:Redundant", source="NCIT:C4514"} ! Ovarian Germ Cell Tumor is_a: MONDO:0018202 {source="Orphanet:35807"} ! gonadal germ cell tumor is_a: MONDO:0018365 {source="Orphanet:35807"} ! malignant non-epithelial tumor of ovary property_value: exactMatch DOID:2155 property_value: exactMatch http://identifiers.org/snomedct/254869000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346180 property_value: exactMatch NCIT:C4514 property_value: exactMatch Orphanet:35807 [Term] id: MONDO:0018174 name: hereditary glaucoma def: "Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." [Orphanet:359] subset: disease_grouping subset: gard_rare {source="GARD:0002486"} subset: ordo_group_of_disorders {source="Orphanet:359"} synonym: "glaucoma, hereditary" RELATED [GARD:0002486] synonym: "hereditary glaucoma (disease)" EXACT [MONDO:patterns/hereditary] xref: MESH:C580055 {source="MONDO:equivalentTo"} xref: Orphanet:359 {source="MONDO:equivalentTo"} xref: UMLS:CN227278 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0005041 {source="MESH:C580055", source="MONDO:Redundant", source="MONDO:cjm"} ! glaucoma intersection_of: MONDO:0005041 ! glaucoma intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/mesh/C580055 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227278 property_value: exactMatch Orphanet:359 property_value: excluded_subClassOf MONDO:0015217 {source="Orphanet:359"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2486/glaucoma-hereditary xsd:anyURI {source="GARD:0002486"} [Term] id: MONDO:0018175 name: combined deficiency of factor V and factor VIII def: "Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms." [Orphanet:35909] subset: ordo_disease {source="Orphanet:35909"} synonym: "combined deficiency of factor V and factor type VIII" EXACT [MONDORULE:3, Orphanet:35909] synonym: "F5F8D" EXACT ABBREVIATION [Orphanet:35909] synonym: "familial multiple coagulation factor deficiency" EXACT [Orphanet:35909] synonym: "FV and FVIII combined deficiency" EXACT [Orphanet:35909] xref: Orphanet:35909 {source="MONDO:equivalentTo"} xref: SCTID:715559004 {source="MONDO:equivalentTo"} xref: UMLS:C1856883 {source="MONDO:equivalentTo", source="Orphanet:35909"} is_a: MONDO:0002242 {source="MONDO:0019039-obsoleted"} ! coagulation protein disease is_a: MONDO:0002243 ! hemorrhagic disease property_value: exactMatch http://identifiers.org/snomedct/715559004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856883 property_value: exactMatch Orphanet:35909 [Term] id: MONDO:0018177 name: glioblastoma is_a: MONDO:0016680 ! high grade astrocytic tumor property_value: closeMatch http://identifiers.org/meddra/10018336 property_value: closeMatch http://identifiers.org/meddra/10018337 property_value: exactMatch DOID:3068 property_value: exactMatch http://identifiers.org/mesh/D005909 property_value: exactMatch http://identifiers.org/snomedct/393563007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017636 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1621958 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227279 property_value: exactMatch NCIT:C3058 property_value: exactMatch Orphanet:360 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5798 xsd:anyURI property_value: IAO:0000589 "glioblastoma (disease)" xsd:string [Term] id: MONDO:0018178 name: intestinal lymphangiectasia def: "Dilatation of the intestinal lymphatic system usually caused by an obstruction in the intestinal wall. It may be congenital or acquired and is characterized by diarrhea; hypoproteinemia; peripheral and/or abdominal edema; and protein-losing enteropathies." [MESH:D008201] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:36204"} synonym: "intestinal lymphangiectasia" EXACT [MONDO:ambiguous] synonym: "intestinal lymphangiectasia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0002593 {source="MONDO:otherHierarchy"} xref: ICD9:457.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10025213 {source="Orphanet:36204/e", source="Orphanet:36204"} xref: Orphanet:36204 {source="MONDO:equivalentTo"} xref: SCTID:197260007 {source="MONDO:equivalentTo"} is_a: EFO:0009431 {source="Orphanet:36204"} ! intestinal disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015245"} ! rare property_value: closeMatch http://identifiers.org/meddra/10025213 property_value: exactMatch http://identifiers.org/snomedct/197260007 property_value: exactMatch Orphanet:36204 property_value: IAO:0000589 "intestinal lymphangiectasia (disease)" xsd:string [Term] id: MONDO:0018185 name: congenital anomaly of the great veins comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:363189"} xref: Orphanet:363189 {source="MONDO:equivalentTo"} is_a: EFO:0005269 {source="Orphanet:363189"} ! congenital heart malformation is_a: MONDO:0016229 ! hereditary vascular anomaly is_a: MONDO:0019063 {source="MONDO:0018723-obsoleted"} ! vascular anomaly property_value: exactMatch Orphanet:363189 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0018186 name: obsolete ring chromosome def: "OBSOLETE. Aberrant chromosomes with no ends, i.e., circular." [MESH:D012303] comment: Reason: grouping class. This term is from orphanet and refers specifically to autosomal chromosome. Consider MONDO:0700091, refering to both autosomal and gonosomal chromosomes. Term to consider: MONDO:0700091 subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:363203"} synonym: "supernumerary circular chromosome" BROAD [NCIT:C3360] xref: Orphanet:363203 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch Orphanet:363203 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4272 xsd:anyURI is_obsolete: true consider: MONDO:0700091 [Term] id: MONDO:0018187 name: hereditary syndromic Pierre Robin syndrome comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:363294"} synonym: "genetic syndromic Pierre Robin syndrome" EXACT [Orphanet:363294] xref: Orphanet:363294 {source="MONDO:equivalentTo"} xref: UMLS:CN204685 {source="MONDO:equivalentTo"} is_a: MONDO:0021147 {source="Orphanet:363294"} ! disorder of development or morphogenesis is_a: MONDO:0024623 {source="Orphanet:363294"} ! otorhinolaryngologic disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204685 property_value: exactMatch Orphanet:363294 property_value: excluded_subClassOf MONDO:0015501 {source="Orphanet:363294"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0018188 name: hereditary intestinal polyposis comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:363314"} synonym: "familial intestinal polyposis" EXACT [Orphanet:363314] synonym: "genetic intestinal polyposis" EXACT [Orphanet:363314] xref: Orphanet:363314 {source="MONDO:equivalentTo"} xref: UMLS:C2713443 {source="MONDO:equivalentTo", source="Orphanet:363314"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0009431 {source="Orphanet:363314"} ! intestinal disease is_a: MONDO:0000147 ! polyposis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015616"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2713443 property_value: exactMatch Orphanet:363314 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0018189 name: autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome def: "Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome is a rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts." [Orphanet:363429] subset: ordo_disease {source="Orphanet:363429"} xref: Orphanet:363429 {source="MONDO:equivalentTo"} xref: UMLS:CN204693 {source="MONDO:equivalentTo"} is_a: MONDO:0019216 {source="Orphanet:363429"} ! inborn disorder of amino acid transport is_a: MONDO:0020044 {source="Orphanet:363429"} ! autosomal recessive metabolic cerebellar ataxia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204693 property_value: exactMatch Orphanet:363429 [Term] id: MONDO:0018190 name: autosomal dominant childhood-onset proximal spinal muscular atrophy subset: ordo_disease {source="Orphanet:363447"} synonym: "lower extremity-predominant autosomal dominant proximal spinal muscular atrophy" EXACT [Orphanet:363447] synonym: "SMALED" EXACT ABBREVIATION [Orphanet:363447] synonym: "spinal muscular atrophy, lower extremity-predominant" RELATED [OMIMPS:158600] xref: DOID:0070348 {source="MONDO:equivalentTo"} xref: OMIMPS:158600 {source="MONDO:equivalentTo"} xref: Orphanet:363447 {source="MONDO:equivalentTo"} xref: UMLS:CN227282 {source="MONDO:equivalentTo"} is_a: MONDO:0016224 {source="Orphanet:363447"} ! autosomal dominant proximal spinal muscular atrophy property_value: exactMatch DOID:0070348 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227282 property_value: exactMatch https://omim.org/phenotypicSeries/PS158600 property_value: exactMatch Orphanet:363447 [Term] id: MONDO:0018191 name: tumor of testis and paratestis comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:363472"} synonym: "testicular and paratesticular tumor" EXACT [Orphanet:363472] synonym: "testicular and paratesticular tumour" EXACT OMO:0003005 [] xref: Orphanet:363472 {source="MONDO:equivalentTo"} xref: UMLS:CN204698 {source="MONDO:equivalentTo"} is_a: EFO:0000616 {source="Orphanet:363472"} ! neoplasm relationship: has_characteristic MONDO:0021136 {source="MONDO:0015931"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204698 property_value: exactMatch Orphanet:363472 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0018197 name: mitochondrial DNA depletion syndrome, hepatocerebrorenal form subset: ordo_disease {source="Orphanet:363534"} synonym: "mtDNA depletion syndrome, hepatocerebrorenal form" EXACT [Orphanet:363534] xref: Orphanet:363534 {source="MONDO:equivalentTo"} xref: UMLS:CN204706 {source="MONDO:equivalentTo"} is_a: MONDO:0015962 {source="Orphanet:363534"} ! inherited renal tubular disease is_a: MONDO:0100512 {source="Orphanet:363534", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial DNA depletion syndrome, hepatocerebral form property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204706 property_value: exactMatch Orphanet:363534 [Term] id: MONDO:0018201 name: extragonadal germ cell tumor def: "A germ cell tumor arising in an anatomic site other than the testis or ovary (e.g., central nervous system, lung, mediastinum, and retroperitoneum)." [NCIT:C3918] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:363579"} synonym: "extragonadal germ cell neoplasm" EXACT [NCIT:C3918] synonym: "extragonadal germ cell neoplasms" EXACT [NCIT:C3918] synonym: "extragonadal germ cell tumor" EXACT [NCIT:C3918] synonym: "neoplasm of extragonadal germ cell" EXACT [NCIT:C3918] synonym: "neoplasm of the extragonadal germ cell" EXACT [NCIT:C3918] synonym: "primary extragonadal germ cell tumor" EXACT [NCIT:C3918] synonym: "primary extragonadal germ cell tumour" EXACT OMO:0003005 [] synonym: "tumor of extragonadal germ cell" EXACT [NCIT:C3918] synonym: "tumor of the extragonadal germ cell" EXACT [NCIT:C3918] synonym: "tumour of extragonadal germ cell" EXACT OMO:0003005 [] synonym: "tumour of the extragonadal germ cell" EXACT OMO:0003005 [] xref: NCIT:C3918 {source="MONDO:equivalentTo"} xref: Orphanet:363579 {source="MONDO:equivalentTo"} xref: UMLS:C0262963 {source="MONDO:equivalentTo"} xref: UMLS:CN204711 {source="MONDO:equivalentTo"} is_a: EFO:0000514 {source="MONDO:0018201/inferred", source="NCIT:C3918", source="Orphanet:363579"} ! germ cell tumor relationship: has_characteristic MONDO:0021136 {source="MONDO:0018080"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0262963 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204711 property_value: exactMatch NCIT:C3918 property_value: exactMatch Orphanet:363579 [Term] id: MONDO:0018202 name: gonadal germ cell tumor subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:363582"} xref: Orphanet:363582 {source="MONDO:equivalentTo"} xref: UMLS:CN204712 {source="MONDO:equivalentTo"} is_a: EFO:0000514 {source="Orphanet:363582"} ! germ cell tumor relationship: has_characteristic MONDO:0021136 {source="MONDO:0018080"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204712 property_value: exactMatch Orphanet:363582 [Term] id: MONDO:0018203 name: LMNA-related cardiocutaneous progeria syndrome def: "A rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies." [Orphanet:363618] subset: ordo_disease {source="Orphanet:363618"} synonym: "LCPS" EXACT ABBREVIATION [Orphanet:363618] xref: Orphanet:363618 {source="MONDO:equivalentTo"} xref: UMLS:CN204714 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0002-2825-0621"} ! genetic disorder is_a: EFO:0003777 {source="Orphanet:363618"} ! heart disease is_a: MONDO:0019303 {source="Orphanet:363618"} ! premature aging syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204714 property_value: exactMatch Orphanet:363618 [Term] id: MONDO:0018204 name: 20q11.2 microduplication syndrome def: "20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features." [Orphanet:363659] subset: ordo_malformation_syndrome {source="Orphanet:363659"} synonym: "dup(20)(q11.2)" EXACT [Orphanet:363659] xref: Orphanet:363659 {source="MONDO:equivalentTo"} xref: SCTID:763061004 {source="MONDO:equivalentTo"} xref: UMLS:CN204718 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:363659"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0016970 {source="Orphanet:363659"} ! partial trisomy of the long arm of chromosome 20 property_value: exactMatch http://identifiers.org/snomedct/763061004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204718 property_value: exactMatch Orphanet:363659 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:363659"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI [Term] id: MONDO:0018205 name: distal monosomy 1q def: "1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies." [Orphanet:36367] subset: ordo_malformation_syndrome {source="Orphanet:36367"} synonym: "distal deletion 1q" EXACT [Orphanet:36367] synonym: "distal monosomy type 1q" EXACT [MONDORULE:4, Orphanet:36367] synonym: "monosomy 1qter" EXACT [Orphanet:36367] synonym: "telomeric deletion 1q" EXACT [Orphanet:36367] xref: Orphanet:36367 {source="MONDO:equivalentTo"} xref: SCTID:717633007 {source="MONDO:equivalentTo"} xref: UMLS:C4273897 {source="MONDO:equivalentTo"} is_a: MONDO:0022756 {source="Orphanet:36367"} ! chromosome 1q deletion property_value: exactMatch http://identifiers.org/snomedct/717633007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4273897 property_value: exactMatch Orphanet:36367 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:cjm"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0018206 name: childhood-onset autosomal recessive myopathy with external ophthalmoplegia subset: ordo_disease {source="Orphanet:363677"} xref: Orphanet:363677 {source="MONDO:equivalentTo"} is_a: MONDO:0011577 ! myopathy, proximal, and ophthalmoplegia is_a: MONDO:0016112 {source="Orphanet:363677"} ! hereditary inclusion-body myopathy property_value: exactMatch Orphanet:363677 property_value: excluded_subClassOf MONDO:0015368 [Term] id: MONDO:0018207 name: 2p13.2 microdeletion syndrome def: "2p13.2 microdeletion syndrome is a rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy." [Orphanet:363680] subset: ordo_malformation_syndrome {source="Orphanet:363680"} synonym: "Del(2)(p13.2)" EXACT [Orphanet:363680] xref: Orphanet:363680 {source="MONDO:equivalentTo"} xref: UMLS:CN204723 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:363680"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0016884 {source="Orphanet:363680"} ! partial deletion of the short arm of chromosome 2 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204723 property_value: exactMatch Orphanet:363680 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:363680"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0018208 name: neurofibromatosis type 1 due to NF1 mutation or intragenic deletion subset: ordo_etiological_subtype {source="Orphanet:363700"} synonym: "Von Recklinghausen disease due to NF1 mutation or intragenic deletion" EXACT [Orphanet:363700] xref: Orphanet:363700 {source="MONDO:equivalentTo"} xref: UMLS:CN204726 {source="MONDO:equivalentTo"} is_a: MONDO:0018975 {source="Orphanet:363700"} ! neurofibromatosis type 1 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204726 property_value: exactMatch Orphanet:363700 [Term] id: MONDO:0018209 name: Alexander disease type I def: "Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration." [Orphanet:363717] subset: ordo_clinical_subtype {source="Orphanet:363717"} synonym: "AxD type I" EXACT [Orphanet:363717] xref: Orphanet:363717 {source="MONDO:equivalentTo"} xref: UMLS:CN204729 {source="MONDO:equivalentTo"} is_a: MONDO:0008752 {source="Orphanet:363717"} ! Alexander disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204729 property_value: exactMatch Orphanet:363717 [Term] id: MONDO:0018210 name: Alexander disease type II def: "Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms." [Orphanet:363722] subset: ordo_clinical_subtype {source="Orphanet:363722"} synonym: "AxD type II" EXACT [Orphanet:363722] xref: Orphanet:363722 {source="MONDO:equivalentTo"} xref: UMLS:CN204730 {source="MONDO:equivalentTo"} is_a: MONDO:0008752 {source="Orphanet:363722"} ! Alexander disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204730 property_value: exactMatch Orphanet:363722 [Term] id: MONDO:0018212 name: familial cervical artery dissection def: "An instance of cervical artery dissection that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: ordo_disease {source="Orphanet:36382"} synonym: "familial CAD" EXACT [Orphanet:36382] synonym: "hereditary CAD" EXACT [Orphanet:36382] synonym: "hereditary cervical artery dissection" EXACT [MONDO:patterns/hereditary, Orphanet:36382] xref: Orphanet:36382 {source="MONDO:equivalentTo"} xref: UMLS:CN204734 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:1000059 {source="https://orcid.org/0000-0001-5208-3432"} ! cervical artery dissection intersection_of: EFO:1000059 ! cervical artery dissection intersection_of: has_characteristic MONDO:0021152 ! inherited relationship: has_characteristic MONDO:0021136 {source="MONDO:0019110"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204734 property_value: exactMatch Orphanet:36382 [Term] id: MONDO:0018213 name: hereditary sensory and autonomic neuropathy type 1 def: "Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterized by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset." [Orphanet:36386] subset: ordo_disease {source="Orphanet:36386"} synonym: "hereditary sensory and autonomic neuropathy type I" EXACT [DOID:0070162, Orphanet:36386] synonym: "hereditary sensory neuropathy type 1" RELATED [GARD:0006635] synonym: "HSAN 1" RELATED [GARD:0006635] synonym: "HSAN1" EXACT ABBREVIATION [DOID:0070162, Orphanet:36386] synonym: "HSN1" RELATED ABBREVIATION [GARD:0006635] synonym: "neuropathy hereditary sensory and autonomic type 1" RELATED [GARD:0006635] synonym: "neuropathy hereditary sensory radicular, autosomal dominant" RELATED [GARD:0006635] xref: DOID:0070162 {source="MONDO:equivalentTo"} xref: Orphanet:36386 {source="MONDO:equivalentTo", source="DOID:0070162"} xref: PMID:18348718 {source="DOID:0070162"} xref: SCTID:397734008 {source="MONDO:equivalentTo", source="DOID:0070162"} is_a: MONDO:0015365 {source="Orphanet:36386"} ! autosomal dominant hereditary sensory and autonomic neuropathy is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis property_value: exactMatch DOID:0070162 property_value: exactMatch http://identifiers.org/snomedct/397734008 property_value: exactMatch Orphanet:36386 [Term] id: MONDO:0018214 name: generalized epilepsy with febrile seizures plus def: "A familial epilepsy syndrome in which family members display a seizure disorder from the generalized epilepsy with febrile seizures plus spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS)." [Orphanet:36387] subset: ordo_disease {source="Orphanet:36387"} synonym: "epilepsy, generalized, with febrile seizures plus" EXACT [OMIMPS:604233] synonym: "GEFS+" EXACT [DOID:0060170, Orphanet:36387] synonym: "generalised epilepsy with febrile seizures-plus" RELATED OMO:0003005 [] synonym: "generalized epilepsy with febrile seizures plus" EXACT [] synonym: "generalized epilepsy with febrile seizures-plus" RELATED [Orphanet:36387] synonym: "genetic epilepsy with febrile seizures plus" EXACT [https://www.clinicalgenome.org/affiliation/40005/, Orphanet:36387] synonym: "genetic epilepsy with febrile seizures-plus" EXACT [https://www.clinicalgenome.org/affiliation/40005/, Orphanet:36387] xref: DOID:0060170 {source="MONDO:equivalentTo"} xref: MESH:C565808 {source="MONDO:equivalentTo"} xref: NCIT:C122811 {source="MONDO:equivalentTo"} xref: OMIMPS:604233 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:36387 {source="MONDO:equivalentTo", source="DOID:0060170"} xref: SCTID:699688008 {source="MONDO:equivalentTo"} xref: UMLS:C3502809 {source="MONDO:equivalentTo", source="Orphanet:36387", source="NCIT:C122811"} is_a: MONDO:0015653 ! monogenic epilepsy property_value: exactMatch DOID:0060170 property_value: exactMatch http://identifiers.org/mesh/C565808 property_value: exactMatch http://identifiers.org/snomedct/699688008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3502809 property_value: exactMatch https://omim.org/phenotypicSeries/PS604233 property_value: exactMatch NCIT:C122811 property_value: exactMatch Orphanet:36387 property_value: excluded_subClassOf MONDO:0005579 {source="DOID:0060170", source="MESH:C565808", source="MONDO:cjm", source="NCIT:C122811"} [Term] id: MONDO:0018215 name: paraneoplastic neurologic syndrome def: "A paraneoplastic syndrome that involves the nervous system." [MONDO:patterns/location] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:36388"} synonym: "nervous system paraneoplastic syndrome" EXACT [MONDO:patterns/location] synonym: "paraneoplastic cerebellar degeneration" NARROW [Orphanet:36388] synonym: "paraneoplastic syndrome of nervous system" EXACT [MONDO:design_pattern] synonym: "PCD" EXACT ABBREVIATION [Orphanet:36388] synonym: "PNS" EXACT ABBREVIATION [Orphanet:36388] xref: ICD9:331.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10072106 {source="Orphanet:36388/e", source="Orphanet:36388"} xref: Orphanet:36388 {source="MONDO:equivalentTo"} xref: SCTID:192877007 {source="MONDO:equivalentTo"} is_a: EFO:0000618 {source="Orphanet:36388"} ! nervous system disease is_a: MONDO:0021073 {source="MONDO:Redundant"} ! paraneoplastic syndrome relationship: has_characteristic MONDO:0021136 {source="MONDO:0020009"} ! rare property_value: closeMatch http://identifiers.org/meddra/10072106 property_value: exactMatch http://identifiers.org/snomedct/192877007 property_value: exactMatch Orphanet:36388 [Term] id: MONDO:0018216 name: Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome subset: ordo_etiological_subtype {source="Orphanet:363958"} synonym: "17q21.31 recurrent microdeletion syndrome" EXACT [DECIPHER:57] synonym: "Del(17)(q21.31)" EXACT [Orphanet:363958] synonym: "monosomy 17q21.31" EXACT [Orphanet:363958] xref: DECIPHER:57 {source="MONDO:equivalentTo"} xref: DOID:0050880 {source="MONDO:equivalentTo"} xref: DOID:0070076 {source="MONDO:equivalentObsolete"} xref: MESH:C566476 {source="MONDO:equivalentTo"} xref: Orphanet:363958 {source="MONDO:equivalentTo"} xref: SCTID:717338006 {source="MONDO:equivalentTo"} xref: UMLS:C1864871 {source="MONDO:equivalentTo", source="Orphanet:363958"} xref: UMLS:CN204740 {source="MONDO:equivalentObsolete"} is_a: MONDO:0012496 {source="Orphanet:363958"} ! Koolen-de Vries syndrome is_a: MONDO:0016915 {source="Orphanet:363958"} ! partial deletion of the long arm of chromosome 17 property_value: exactMatch DOID:0050880 property_value: exactMatch http://identifiers.org/mesh/C566476 property_value: exactMatch http://identifiers.org/snomedct/717338006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864871 property_value: exactMatch Orphanet:363958 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4174 xsd:anyURI [Term] id: MONDO:0018217 name: Koolen-de Vries syndrome due to a point mutation subset: ordo_etiological_subtype {source="Orphanet:363965"} xref: Orphanet:363965 {source="MONDO:equivalentTo"} xref: UMLS:CN204741 {source="MONDO:equivalentTo"} is_a: MONDO:0012496 {source="Orphanet:363965"} ! Koolen-de Vries syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204741 property_value: exactMatch Orphanet:363965 [Term] id: MONDO:0018218 name: autosomal recessive cerebral atrophy subset: ordo_disease {source="Orphanet:363969"} xref: Orphanet:363969 {source="MONDO:equivalentTo"} xref: UMLS:CN204742 {source="MONDO:equivalentTo"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0024237 {source="Orphanet:363969"} ! inherited neurodegenerative disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204742 property_value: exactMatch Orphanet:363969 [Term] id: MONDO:0018222 name: X-linked intellectual disability due to GRIA3 anomalies comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: obsoletion_candidate subset: ordo_disease {source="Orphanet:364028"} xref: Orphanet:364028 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:364028"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020119 {source="Orphanet:364028", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch Orphanet:364028 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0018226 name: infantile epileptic-dyskinetic encephalopathy def: "Infantile epileptic-dyskinetic encephalopathy is a monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability." [Orphanet:364063] subset: ordo_disease {source="Orphanet:364063"} xref: MESH:C567924 {source="MONDO:equivalentTo"} xref: Orphanet:364063 {source="MONDO:equivalentTo"} is_a: MONDO:0018329 {source="Orphanet:364063"} ! persistent combined dystonia property_value: exactMatch http://identifiers.org/mesh/C567924 property_value: exactMatch Orphanet:364063 property_value: excluded_subClassOf MONDO:0015921 {source="Orphanet:364063"} [Term] id: MONDO:0018228 name: bipartite talus def: "Bipartite talus is a rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling." [Orphanet:364198] subset: ordo_morphological_anomaly {source="Orphanet:364198"} xref: Orphanet:364198 {source="MONDO:equivalentTo"} xref: SCTID:763128009 {source="MONDO:equivalentTo"} xref: UMLS:CN227287 {source="MONDO:equivalentTo"} is_a: MONDO:0015227 {source="Orphanet:364198"} ! non-syndromic limb malformation is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin property_value: exactMatch http://identifiers.org/snomedct/763128009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227287 property_value: exactMatch Orphanet:364198 [Term] id: MONDO:0018230 name: skeletal dysplasia def: "Any Mendelian diseases that affects growth and development of the skeleton." [https://orcid.org/0000-0001-5208-3432, https://www.skeldys.org/, PMID:31633310] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:364526"} synonym: "Mendelian skeletal dysplasia" EXACT [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-1780-5230] synonym: "primary bone dysplasia" EXACT [Orphanet:364526] synonym: "primary osteodysplasia" EXACT [Orphanet:364526] synonym: "primary skeletal dysplasia" EXACT [Orphanet:364526] xref: Orphanet:364526 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0002-0736-9199", source="https://orcid.org/0000-0002-1780-5230"} ! genetic disorder is_a: EFO:0004260 {source="https://orcid.org/0000-0002-0736-9199", source="https://orcid.org/0000-0002-1780-5230"} ! bone disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015328"} ! rare property_value: exactMatch Orphanet:364526 property_value: excluded_subClassOf MONDO:0005497 {source="Orphanet:364526"} property_value: excluded_subClassOf MONDO:0015958 {source="Orphanet:364526"} property_value: excluded_subClassOf MONDO:0018457 {source="Orphanet:364526"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4995 xsd:anyURI [Term] id: MONDO:0018233 name: otopalatodigital syndrome spectrum disorder def: "Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group include otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects." [Orphanet:364541] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:364541"} synonym: "OPD spectrum disorder" EXACT [Orphanet:364541] synonym: "OPSD" EXACT ABBREVIATION [Orphanet:364541] xref: DOID:0111782 {source="MONDO:equivalentTo"} xref: Orphanet:364541 {source="MONDO:equivalentTo"} xref: UMLS:C2748918 {source="Orphanet:364541", source="MONDO:equivalentTo"} is_a: MONDO:0019690 {source="Orphanet:364541"} ! filamin-related bone disorder property_value: exactMatch DOID:0111782 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748918 property_value: exactMatch Orphanet:364541 [Term] id: MONDO:0018234 name: dysostosis def: "A group of disorders in which the skeletal involvement is predominantly manifested as abnormalities of individual bones or in a group of bones." [https://orcid.org/0000-0002-0736-9199, https://www.sciencedirect.com/topics/medicine-and-dentistry/dysostosis] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:364559"} synonym: "dysostosis" EXACT [NCIT:C34560] xref: DOID:1934 {source="MONDO:equivalentTo"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D004413 {source="MONDO:equivalentTo", source="DOID:1934"} xref: NCIT:C34560 {source="MONDO:equivalentTo", source="DOID:1934"} xref: Orphanet:364559 {source="MONDO:equivalentTo"} xref: SCTID:109420003 {source="MONDO:equivalentTo", source="DOID:1934"} xref: UMLS:C0013393 {source="NCIT:C34560", source="MONDO:equivalentTo", source="Orphanet:364559", source="DOID:1934"} is_a: EFO:0005541 {source="DOID:1934", source="MONDO:Redundant", source="Orphanet:364559"} ! bone development disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015328", source="MONDO:0019684"} ! rare property_value: exactMatch DOID:1934 property_value: exactMatch http://identifiers.org/mesh/D004413 property_value: exactMatch http://identifiers.org/snomedct/109420003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013393 property_value: exactMatch NCIT:C34560 property_value: exactMatch Orphanet:364559 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4994 xsd:anyURI [Term] id: MONDO:0018236 name: obsolete dysostosis with limb and face anomalies as a major feature subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:364571"} xref: Orphanet:364571 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch Orphanet:364571 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI is_obsolete: true [Term] id: MONDO:0018237 name: acrofacial dysostosis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:364574"} xref: DOID:0060379 {source="MONDO:equivalentTo"} xref: NCIT:C35795 {source="MONDO:equivalentTo"} xref: Orphanet:364574 {source="MONDO:equivalentTo"} xref: UMLS:C1332140 {source="MONDO:equivalentTo", source="NCIT:C35795"} is_a: MONDO:0018454 {source="MONDO:0018236-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation property_value: exactMatch DOID:0060379 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332140 property_value: exactMatch NCIT:C35795 property_value: exactMatch Orphanet:364574 [Term] id: MONDO:0018239 name: aggrecan-related bone disorder comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:364817"} xref: Orphanet:364817 {source="MONDO:equivalentTo"} xref: UMLS:CN227289 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227289 property_value: exactMatch Orphanet:364817 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0018240 name: TRPV4-related bone disorder comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:364820"} xref: Orphanet:364820 {source="MONDO:equivalentTo"} xref: UMLS:CN227290 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227290 property_value: exactMatch Orphanet:364820 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0018241 name: primary short bowel syndrome comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:365563"} xref: Orphanet:365563 {source="MONDO:equivalentTo"} xref: UMLS:CN204780 {source="MONDO:equivalentTo"} is_a: MONDO:0015183 {source="Orphanet:365563"} ! short bowel syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204780 property_value: exactMatch Orphanet:365563 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0018242 name: autoimmune hypoparathyroidism def: "An autoimmune form of hypoparathyroidism." [MONDO:patterns/autoimmune] subset: ordo_disease {source="Orphanet:36913"} synonym: "autoimmune hypoparathyroidism" EXACT [MONDO:ambiguous] synonym: "autoimmune hypoparathyroidism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0011771 {source="MONDO:otherHierarchy"} xref: Orphanet:36913 {source="MONDO:equivalentTo"} xref: SCTID:75316000 {source="MONDO:equivalentTo"} xref: UMLS:C0271865 {source="Orphanet:36913", source="MONDO:equivalentTo", source="Orphanet:36913/e"} is_a: EFO:0009451 {source="Orphanet:36913"} ! hypoparathyroidism is_a: MONDO:0000569 ! autoimmune disorder of endocrine system relationship: has_characteristic MONDO:0021136 {source="MONDO:0015896"} ! rare property_value: exactMatch http://identifiers.org/snomedct/75316000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271865 property_value: exactMatch Orphanet:36913 property_value: IAO:0000589 "autoimmune hypoparathyroidism (disease)" xsd:string [Term] id: MONDO:0018243 name: intellectual disability-hyperkinetic movement-truncal ataxia syndrome subset: ordo_disease {source="Orphanet:369847"} xref: ICD10CM:G71.0 {source="MONDO:relatedTo", source="Orphanet:369847", source="Orphanet:369847/attributed", source="Orphanet:369847/ntbt"} xref: Orphanet:369847 {source="MONDO:equivalentTo"} xref: UMLS:CN204803 {source="MONDO:equivalentTo"} is_a: EFO:0004280 {source="MONDO:Redundant", source="Orphanet:369847"} ! movement disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0015957", source="MONDO:0015983", source="MONDO:0017645"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204803 property_value: exactMatch Orphanet:369847 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:369847"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0018244 name: obesity due to SIM1 deficiency subset: ordo_disease {source="Orphanet:369873"} xref: Orphanet:369873 {source="MONDO:equivalentTo"} is_a: MONDO:0020075 {source="Orphanet:369873"} ! hereditary non-syndromic obesity property_value: exactMatch Orphanet:369873 [Term] id: MONDO:0018245 name: 2p21 microdeletion syndrome without cystinuria def: "2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria." [Orphanet:369881] subset: ordo_malformation_syndrome {source="Orphanet:369881"} synonym: "Del(2)(p21) without cystinuria" EXACT [Orphanet:369881] xref: Orphanet:369881 {source="MONDO:equivalentTo"} xref: UMLS:CN204807 {source="MONDO:equivalentTo"} is_a: MONDO:0018246 {source="Orphanet:369881"} ! homozygous 2p21 microdeletion syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204807 property_value: exactMatch Orphanet:369881 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0018246 name: homozygous 2p21 microdeletion syndrome comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:369886"} synonym: "2p21 contiguous gene deletion syndrome" EXACT [Orphanet:369886] xref: Orphanet:369886 {source="MONDO:equivalentTo"} xref: UMLS:CN204808 {source="MONDO:equivalentTo"} is_a: MONDO:0015583 ! 2p21 microdeletion syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204808 property_value: exactMatch Orphanet:369886 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0018247 name: CADDS subset: ordo_disease {source="Orphanet:369942"} synonym: "CADDS" EXACT [https://www.clinicalgenome.org/affiliation/40049/, OMIM:300475] synonym: "contiguous ABCD1 DXS1357E deletion syndrome" EXACT [Orphanet:369942] synonym: "Zellweger-like contiguous gene deletion syndrome" EXACT [Orphanet:369942] xref: Orphanet:369942 {source="MONDO:equivalentTo"} xref: UMLS:CN180200 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0015327 {source="MONDO:Redundant", source="Orphanet:369942"} ! developmental anomaly of metabolic origin is_a: MONDO:0019046 {source="Orphanet:369942"} ! leukodystrophy is_a: MONDO:0019053 {source="Orphanet:369942"} ! peroxisomal disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN180200 property_value: exactMatch Orphanet:369942 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5809 xsd:anyURI [Term] id: MONDO:0018248 name: intellectual disability-seizures-macrocephaly-obesity syndrome def: "Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality." [Orphanet:369950] subset: ordo_disease {source="Orphanet:369950"} synonym: "Der(8)t(8;12)" EXACT [Orphanet:369950] xref: Orphanet:369950 {source="MONDO:equivalentTo"} xref: UMLS:CN204818 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:369950"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0016565 {source="Orphanet:369950"} ! syndromic genetic obesity property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204818 property_value: exactMatch Orphanet:369950 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:369950"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0018249 name: finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome subset: ordo_malformation_syndrome {source="Orphanet:369979"} xref: Orphanet:369979 {source="MONDO:equivalentTo"} xref: UMLS:CN204822 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204822 property_value: exactMatch Orphanet:369979 [Term] id: MONDO:0018250 name: diffuse palmoplantar keratoderma with painful fissures subset: ordo_disease {source="Orphanet:369999"} xref: Orphanet:369999 {source="MONDO:equivalentTo"} xref: UMLS:CN204824 {source="MONDO:equivalentTo"} is_a: MONDO:0020093 {source="Orphanet:369999"} ! autosomal dominant isolated diffuse palmoplantar keratoderma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204824 property_value: exactMatch Orphanet:369999 [Term] id: MONDO:0018252 name: focal palmoplantar keratoderma with joint keratoses subset: ordo_disease {source="Orphanet:370002"} xref: Orphanet:370002 {source="MONDO:equivalentTo"} xref: UMLS:CN204827 {source="MONDO:equivalentTo"} is_a: MONDO:0017673 {source="Orphanet:370002"} ! isolated focal palmoplantar keratoderma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204827 property_value: exactMatch Orphanet:370002 [Term] id: MONDO:0018253 name: intellectual disability-facial dysmorphism-hand anomalies syndrome subset: ordo_malformation_syndrome {source="Orphanet:370010"} xref: Orphanet:370010 {source="MONDO:equivalentTo"} xref: UMLS:CN204829 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:370010"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204829 property_value: exactMatch Orphanet:370010 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:370010"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0018254 name: spondyloepimetaphyseal dysplasia, Isidor type subset: ordo_disease {source="Orphanet:370015"} xref: Orphanet:370015 {source="MONDO:equivalentTo"} is_a: MONDO:0100510 {source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia property_value: exactMatch Orphanet:370015 property_value: excluded_subClassOf MONDO:0016761 {source="Orphanet:370015"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5280 xsd:anyURI [Term] id: MONDO:0018255 name: spondylometaphyseal dysplasia, Czarny-Ratajczak type subset: ordo_disease {source="Orphanet:370019"} xref: Orphanet:370019 {source="MONDO:equivalentTo"} is_a: MONDO:0016763 {source="Orphanet:370019"} ! spondylometaphyseal dysplasia property_value: exactMatch Orphanet:370019 [Term] id: MONDO:0018257 name: familial syringomyelia def: "An instance of syringomyelia that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: ordo_clinical_subtype {source="Orphanet:370034"} synonym: "hereditary syringomyelia" EXACT [MONDO:patterns/hereditary] xref: Orphanet:370034 {source="MONDO:equivalentTo"} xref: UMLS:CN204832 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0020508 {source="Orphanet:370034"} ! primary syringomyelia intersection_of: MONDO:0017987 ! syringomyelia intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204832 property_value: exactMatch Orphanet:370034 [Term] id: MONDO:0018262 name: fetal anticonvulsant syndrome comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:370068"} synonym: "FACS" EXACT ABBREVIATION [Orphanet:370068] synonym: "fetal AEDS" EXACT [Orphanet:370068] synonym: "fetal antiepileptic drug syndrome" EXACT [Orphanet:370068] synonym: "foetal AEDS" EXACT OMO:0003005 [] synonym: "foetal antiepileptic drug syndrome" EXACT OMO:0003005 [] xref: Orphanet:370068 {source="MONDO:equivalentTo"} xref: UMLS:C1739111 {source="MONDO:equivalentTo", source="Orphanet:370068"} is_a: MONDO:0016677 {source="Orphanet:370068"} ! toxic or drug-related embryofetopathy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1739111 property_value: exactMatch Orphanet:370068 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0018264 name: oculocutaneous albinism type 6 def: "A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity." [Orphanet:370097] subset: ordo_disease {source="Orphanet:370097"} synonym: "albinism, oculocutaneous, type VI" RELATED [OMIM:113750] synonym: "OCA6" EXACT ABBREVIATION [OMIM:113750, Orphanet:370097] synonym: "skin/hair/eye pigmentation 4, fair/dark skin" RELATED [OMIM:113750, OMIM:genemap2] xref: DOID:0080614 {source="MONDO:equivalentTo"} xref: OMIM:113750 {source="Orphanet:370097/ntbt", source="Orphanet:370097", source="MONDO:equivalentTo"} xref: Orphanet:370097 {source="MONDO:equivalentTo", source="OMIM:113750"} xref: SCTID:722058005 {source="MONDO:equivalentTo"} xref: UMLS:C3805375 {source="MONDO:equivalentTo", source="OMIM:113750"} is_a: MONDO:0018910 {source="OMIM:113750", source="Orphanet:370097"} ! oculocutaneous albinism property_value: exactMatch DOID:0080614 property_value: exactMatch http://identifiers.org/snomedct/722058005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3805375 property_value: exactMatch https://omim.org/entry/113750 property_value: exactMatch Orphanet:370097 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0018265 name: obsolete rare disorder with dystonia and other neurologic or systemic manifestation subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:370106"} xref: Orphanet:370106 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227296 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227296 property_value: exactMatch Orphanet:370106 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true [Term] id: MONDO:0018266 name: ataxia - telangiectasia variant def: "Ataxia-telangiectasia variant is a rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present." [Orphanet:370109] subset: ordo_disease {source="Orphanet:370109"} synonym: "v-AT" EXACT [Orphanet:370109] xref: Orphanet:370109 {source="MONDO:equivalentTo"} xref: UMLS:C1876175 {source="Orphanet:370109", source="MONDO:equivalentTo"} is_a: MONDO:0018329 {source="Orphanet:370109"} ! persistent combined dystonia relationship: disease_shares_features_of MONDO:0008840 {source="https://github.com/monarch-initiative/mondo-build/issues/42"} ! ataxia telangiectasia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1876175 property_value: exactMatch Orphanet:370109 [Term] id: MONDO:0018267 name: combined cervical dystonia subset: ordo_disease {source="Orphanet:370114"} xref: Orphanet:370114 {source="MONDO:equivalentObsolete"} is_a: MONDO:0018329 {source="Orphanet:370114"} ! persistent combined dystonia [Term] id: MONDO:0018268 name: Medich giant platelet syndrome def: "Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding." [Orphanet:370127] subset: ordo_disease {source="Orphanet:370127"} synonym: "Medich macrothrombocytopenia" EXACT [Orphanet:370127] xref: Orphanet:370127 {source="MONDO:equivalentTo"} xref: SCTID:718554005 {source="MONDO:equivalentTo"} xref: UMLS:C4305375 {source="MONDO:equivalentTo"} xref: UMLS:CN204847 {source="MONDO:equivalentTo"} is_a: MONDO:0020117 {source="Orphanet:370127"} ! alpha granule disease property_value: exactMatch http://identifiers.org/snomedct/718554005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305375 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204847 property_value: exactMatch Orphanet:370127 [Term] id: MONDO:0018269 name: white platelet syndrome def: "White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding." [Orphanet:370131] comment: Editor note: check relationship to platelet granule deficiency disorder subset: gard_rare {source="GARD:0009282"} subset: ordo_disease {source="Orphanet:370131"} synonym: "platelet granule deficiency disorder" RELATED [GARD:0009282] xref: MESH:C536702 {source="MONDO:equivalentTo"} xref: Orphanet:370131 {source="MONDO:equivalentTo"} xref: SCTID:718553004 {source="MONDO:equivalentTo"} xref: UMLS:C2931293 {source="Orphanet:370131", source="MONDO:equivalentTo"} is_a: MONDO:0020117 {source="Orphanet:370131"} ! alpha granule disease property_value: exactMatch http://identifiers.org/mesh/C536702 property_value: exactMatch http://identifiers.org/snomedct/718553004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931293 property_value: exactMatch Orphanet:370131 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9282/white-platelet-syndrome xsd:anyURI {source="GARD:0009282"} [Term] id: MONDO:0018271 name: peripheral primitive neuroectodermal tumor def: "A small round cell tumor with neural differentiation arising from the soft tissues or bone." [NCIT:C9341] comment: Other ontologies classify peripheral neuroepithelioma as a seprate class but NCIT treats these as synonyms and we aim to follow NCIT here. (See HP:0006717, SNOMED:254764001, the "included" disease concept on OMIM:612219, and UMLS:C3489398). subset: ordo_disease {source="Orphanet:370348"} synonym: "peripheral neuroectodermal neoplasm" EXACT [NCIT:C9341] synonym: "peripheral neuroectodermal tumor" EXACT [NCIT:C9341] synonym: "peripheral neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "peripheral neuroepithelioma" EXACT [NCIT:C9341] synonym: "peripheral PNET" EXACT [NCIT:C9341, Orphanet:370348] synonym: "peripheral primitive neuroectodermal neoplasm" EXACT [NCIT:C9341] synonym: "peripheral primitive neuroectodermal tumor" EXACT [NCIT:C9341] synonym: "PPNET" EXACT ABBREVIATION [Orphanet:370348] synonym: "pPNET" EXACT [NCIT:C9341] xref: ICDO:9364/3 {source="NCIT:C9341"} xref: NCIT:C9341 {source="MONDO:0021039", source="MONDO:equivalentTo"} xref: Orphanet:370348 {source="MONDO:equivalentTo"} xref: UMLS:C0684337 {source="MONDO:equivalentTo", source="Orphanet:370348"} xref: UMLS:C3489398 {source="MONDO:equivalentTo", source="NCIT:C9341"} is_a: EFO:0005235 {source="NCIT:C9341"} ! primitive neuroectodermal tumor is_a: MONDO:0021038 {source="NCIT:C9341"} ! Ewing sarcoma/peripheral primitive neuroectodermal tumor is_a: MONDO:0021089 {source="NCIT:C9341"} ! peripheral nervous system cancer property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0684337 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3489398 property_value: exactMatch NCIT:C9341 property_value: exactMatch Orphanet:370348 property_value: excluded_subClassOf MONDO:0021054 {source="Orphanet:370348"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4039 xsd:anyURI [Term] id: MONDO:0018273 name: XYLT1-congenital disorder of glycosylation subset: ordo_disease {source="Orphanet:370930"} synonym: "XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation" EXACT [MEDGEN:C4750849] synonym: "XYLT1-congenital disorder of glycosylation" EXACT [] synonym: "XYLT18-CDG" EXACT ABBREVIATION [Orphanet:356961] xref: Orphanet:370930 {source="MONDO:equivalentTo"} xref: UMLS:CN204859 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:370930"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0017742 {source="Orphanet:370930"} ! disorder of O-xylosylglycan synthesis property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204859 property_value: exactMatch Orphanet:370930 [Term] id: MONDO:0018274 name: GM3 synthase deficiency def: "GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin within the first year of life and worsen over time. Multiple types of seizures are possible, including generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Some affected children also experience prolonged episodes of seizure activity called nonconvulsive status epilepticus. The seizures associated with GM3 synthase deficiency tend to be resistant (refractory) to treatment with antiseizure medications." [https://ghr.nlm.nih.gov/condition/gm3-synthase-deficiency] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:370933"} synonym: "Amish infantile epilepsy syndrome" EXACT [MONDO:0012189, OMIM:609056] synonym: "disorder of lactosylceramide alpha-2,3-sialyltransferase activity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "epilepsy syndrome, infantile-onset symptomatic" EXACT [OMIM:609056] synonym: "GM3 synthase deficiency" EXACT [] synonym: "infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness" EXACT [GARD:0012059] synonym: "infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome" EXACT [Orphanet:171714] synonym: "lactosylceramide alpha-2,3-sialyltransferase activity disease" EXACT [MONDO:design_pattern] synonym: "salt & pepper syndrome" EXACT [DOID:0060470, MONDO:0018275] synonym: "salt and pepper developmental regression syndrome" EXACT [OMIM:609056] synonym: "salt and pepper mental retardation syndrome" RELATED DEPRECATED [OMIM:609056] synonym: "salt-and-pepper syndrome" EXACT [DOID:0060470] synonym: "SPDRS" EXACT ABBREVIATION [OMIM:609056] synonym: "ST3GAL5-CDG" EXACT [Orphanet:370933] xref: DOID:0060470 {source="MONDO:equivalentTo"} xref: OMIM:609056 {source="Orphanet:171714", source="Orphanet:370938/ntbt", source="Orphanet:171714/ntbt", source="Orphanet:370938", source="MONDO:equivalentTo"} xref: Orphanet:171714 {source="MONDO:equivalentObsolete", source="OMIM:609056"} xref: Orphanet:370933 {source="MONDO:equivalentTo"} xref: Orphanet:370938 {source="MONDO:equivalentObsolete", source="DOID:0060470"} xref: SCTID:722762005 {source="MONDO:equivalentTo"} xref: UMLS:C1836824 {source="Orphanet:171714", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609056"} xref: UMLS:CN204860 {source="MONDO:equivalentTo"} is_a: EFO:1000017 {source="DOID:0060470", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0017748 {source="Orphanet:370933"} ! inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch DOID:0060470 property_value: exactMatch http://identifiers.org/snomedct/722762005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836824 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204860 property_value: exactMatch https://omim.org/entry/609056 property_value: exactMatch Orphanet:370933 property_value: excluded_subClassOf MONDO:0005093 property_value: excluded_subClassOf MONDO:0019288 {source="Orphanet:370938"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5682 xsd:anyURI [Term] id: MONDO:0018276 name: muscular dystrophy-dystroglycanopathy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:370953"} synonym: "CMD due to dystroglycanopathy" EXACT [DOID:0050588, Orphanet:370953] synonym: "congenital muscular dystrophy due to dystroglycanopathy" RELATED [Orphanet:370953] synonym: "muscular dystrophy-dystroglycanopathy" EXACT [] xref: DOID:0112374 {source="MONDO:equivalentTo"} xref: Orphanet:370953 {source="DOID:0050588", source="MONDO:equivalentTo"} xref: UMLS:CN229783 {source="MONDO:equivalentTo"} is_a: MONDO:0019950 {source="DOID:0050588", source="Orphanet:370953"} ! congenital muscular dystrophy property_value: exactMatch DOID:0112374 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229783 property_value: exactMatch Orphanet:370953 [Term] id: MONDO:0018277 name: congenital muscular dystrophy with cerebellar involvement comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: obsoletion_candidate subset: ordo_disease {source="Orphanet:370959"} synonym: "CMD with cerebellar involvement" EXACT [Orphanet:370959] synonym: "CMD-CRB" EXACT [Orphanet:370959] xref: Orphanet:370959 {source="MONDO:equivalentTo"} is_a: MONDO:0017745 {source="Orphanet:370959"} ! disorder of O-mannosylglycan synthesis is_a: MONDO:0018276 {source="Orphanet:370959"} ! muscular dystrophy-dystroglycanopathy property_value: exactMatch Orphanet:370959 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0018278 name: congenital muscular dystrophy with intellectual disability subset: ordo_disease {source="Orphanet:370968"} synonym: "CMD with intellectual disability" EXACT [Orphanet:370968] synonym: "CMD-MR" EXACT [Orphanet:370968] xref: Orphanet:370968 {source="MONDO:equivalentTo"} is_a: MONDO:0017745 {source="Orphanet:370968"} ! disorder of O-mannosylglycan synthesis is_a: MONDO:0018276 {source="Orphanet:370968"} ! muscular dystrophy-dystroglycanopathy property_value: exactMatch Orphanet:370968 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0018279 name: congenital muscular dystrophy without intellectual disability comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: obsoletion_candidate subset: ordo_disease {source="Orphanet:370980"} synonym: "CMD without intellectual disability" EXACT [Orphanet:370980] synonym: "CMD-no MR" EXACT [Orphanet:370980] synonym: "congenital muscular dystrophy-dystroglycanopathy without intellectual disability" EXACT [Orphanet:370980] xref: Orphanet:370980 {source="MONDO:equivalentTo"} is_a: MONDO:0017745 {source="Orphanet:370980"} ! disorder of O-mannosylglycan synthesis is_a: MONDO:0018276 {source="Orphanet:370980"} ! muscular dystrophy-dystroglycanopathy property_value: exactMatch Orphanet:370980 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0018280 name: muscle-eye-brain disease with bilateral multicystic leucodystrophy def: "Muscle-eye-brain (MEB) disease with bilateral multicystic leucodystrophy is a form of congenital muscular alpha-dystroglycanopathy with brain and eye anomaly characterized by severe muscle-eye-brain disease-like phenotype associated with macrocephaly and extended bilateral multicystic white matter disease, overlapping with the cerebral findings in patients with megalencephalic leukoencephalopathy with subcortical cysts." [Orphanet:370997] subset: ordo_disease {source="Orphanet:370997"} synonym: "MEB disease with bilateral multicystic leucodystrophy" EXACT [Orphanet:370997] xref: Orphanet:370997 {source="MONDO:equivalentTo"} is_a: MONDO:0018276 ! muscular dystrophy-dystroglycanopathy is_a: MONDO:0018869 ! cobblestone lissencephaly property_value: exactMatch Orphanet:370997 [Term] id: MONDO:0018281 name: congenital muscular dystrophy with hyperlaxity def: "Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time." [Orphanet:371007] subset: ordo_disease {source="Orphanet:371007"} synonym: "CMDH" EXACT ABBREVIATION [Orphanet:371007] xref: Orphanet:371007 {source="MONDO:equivalentTo"} xref: SCTID:763314009 {source="MONDO:equivalentTo"} is_a: MONDO:0019950 {source="Orphanet:371007"} ! congenital muscular dystrophy property_value: exactMatch http://identifiers.org/snomedct/763314009 property_value: exactMatch Orphanet:371007 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0018282 name: qualitative or quantitative defects of alpha-dystroglycan subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:371024"} synonym: "alpha-dystroglycanopathy" EXACT [Orphanet:371024] synonym: "dystroglycanopathy" EXACT [Orphanet:371024] xref: Orphanet:371024 {source="MONDO:equivalentTo"} is_a: MONDO:0016139 {source="Orphanet:371024"} ! qualitative or quantitative protein defects in neuromuscular diseases property_value: exactMatch Orphanet:371024 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI [Term] id: MONDO:0018283 name: primary qualitative or quantitative defects of alpha-dystroglycan comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:371040"} synonym: "primary alpha-dystroglycanopathy" EXACT [Orphanet:371040] synonym: "primary dystroglycanopathy" EXACT [Orphanet:371040] xref: Orphanet:371040 {source="MONDO:equivalentTo"} is_a: MONDO:0018282 {source="Orphanet:371040"} ! qualitative or quantitative defects of alpha-dystroglycan property_value: exactMatch Orphanet:371040 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0018285 name: obsolete X-linked congenital disorder of glycosylation with intellectual disability as a major feature subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:371054"} synonym: "X-linked CDG with intellectual disability as a major feature" EXACT [Orphanet:371054] xref: Orphanet:371054 {source="MONDO:obsoleteEquivalentObsolete"} property_value: exactMatch Orphanet:371054 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI is_obsolete: true [Term] id: MONDO:0018286 name: obsolete non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:371064"} synonym: "non-X-linked CDG with intellectual disability as a major feature" EXACT [Orphanet:371064] xref: Orphanet:371064 {source="MONDO:obsoleteEquivalentObsolete"} property_value: exactMatch Orphanet:371064 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI is_obsolete: true [Term] id: MONDO:0018287 name: obsolete congenital disorder of glycosylation with epilepsy as a major feature subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:371071"} synonym: "CDG with epilepsy as a major feature" EXACT [Orphanet:371071] xref: Orphanet:371071 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch Orphanet:371071 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI is_obsolete: true [Term] id: MONDO:0018290 name: obsolete congenital disorder of glycosylation with cardiac malformation as a major feature subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:371183"} synonym: "CDG with cardiac malformation as a major feature" EXACT [Orphanet:371183] xref: Orphanet:371183 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch Orphanet:371183 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI is_obsolete: true [Term] id: MONDO:0018292 name: congenital disorder of glycosylation-related bone disorder comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:371195"} synonym: "CDG-related bone disorder" EXACT [Orphanet:371195] xref: Orphanet:371195 {source="MONDO:equivalentTo"} is_a: EFO:0004260 {source="Orphanet:371195"} ! bone disease is_a: MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital disorder of glycosylation is_a: MONDO:0015327 ! developmental anomaly of metabolic origin property_value: exactMatch Orphanet:371195 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0018294 name: obsolete congenital disorder of glycosylation with nephropathy as a major feature subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:371207"} synonym: "CDG with nephropathy as a major feature" EXACT [Orphanet:371207] xref: Orphanet:371207 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch Orphanet:371207 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI is_obsolete: true [Term] id: MONDO:0018295 name: obsolete congenital disorder of glycosylation with deafness as a major feature subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:371212"} synonym: "CDG with deafness as a major feature" EXACT [Orphanet:371212] xref: Orphanet:371212 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch Orphanet:371212 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI is_obsolete: true [Term] id: MONDO:0018297 name: obsolete hypotonia-speech impairment-severe cognitive delay syndrome property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3417 xsd:anyURI is_obsolete: true replaced_by: MONDO:0014176 [Term] id: MONDO:0018298 name: multicentric osteolysis-nodulosis-arthropathy spectrum def: "A rare genetic chronic skeletal disorder characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations." [Orphanet:371428] subset: ordo_disease {source="Orphanet:371428"} synonym: "mona spectrum" EXACT [Orphanet:371428] xref: Orphanet:371428 {source="MONDO:equivalentTo"} xref: SCTID:716868003 {source="MONDO:equivalentTo"} xref: UMLS:CN227313 {source="MONDO:equivalentTo"} is_a: MONDO:0019707 {source="Orphanet:371428"} ! primary osteolysis property_value: exactMatch http://identifiers.org/snomedct/716868003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227313 property_value: exactMatch Orphanet:371428 [Term] id: MONDO:0018303 name: obsolete generalized isolated dystonia property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5166 xsd:anyURI is_obsolete: true replaced_by: MONDO:0000476 [Term] id: MONDO:0018305 name: chronic granulomatous disease def: "Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas." [Orphanet:379] subset: gard_rare {source="GARD:0006100"} subset: ordo_disease {source="Orphanet:379"} synonym: "Bridges-Good syndrome" EXACT [DOID:3265] synonym: "CGD" EXACT ABBREVIATION [DOID:3265, NCIT:C26788, Orphanet:379] synonym: "chronic septic granulomatosis" EXACT [Orphanet:379] synonym: "congenital dysphagocytosis" EXACT [DOID:3265] synonym: "granulomatous disease, chronic" RELATED [GARD:0006100] synonym: "Quie syndrome" EXACT [DOID:3265] xref: DOID:3265 {source="MONDO:equivalentTo"} xref: MedDRA:10008906 {source="Orphanet:379", source="Orphanet:379/e"} xref: MESH:D006105 {source="DOID:3265", source="Orphanet:379", source="MONDO:equivalentTo", source="Orphanet:379/e"} xref: NCIT:C26788 {source="DOID:3265", source="MONDO:equivalentTo"} xref: OMIMPS:306400 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:379 {source="DOID:3265", source="MONDO:equivalentTo"} xref: SCTID:387759001 {source="DOID:3265", source="MONDO:equivalentTo"} xref: UMLS:C0018203 {source="DOID:3265", source="Orphanet:379", source="MONDO:equivalentTo", source="Orphanet:379/e", source="NCIT:C26788"} is_a: EFO:0007433 {source="DOID:3265", source="MESH:D006105"} ! phagocyte bactericidal dysfunction is_a: EFO:0009903 ! inflammatory disease is_a: MONDO:0024626 ! defective phagocytic cell engulfment property_value: closeMatch http://identifiers.org/meddra/10008906 property_value: exactMatch DOID:3265 property_value: exactMatch http://identifiers.org/mesh/D006105 property_value: exactMatch http://identifiers.org/snomedct/387759001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018203 property_value: exactMatch https://omim.org/phenotypicSeries/PS306400 property_value: exactMatch NCIT:C26788 property_value: exactMatch Orphanet:379 property_value: excluded_subClassOf MONDO:0005265 {source="Orphanet:379"} property_value: excluded_subClassOf MONDO:0015978 {source="Orphanet:379"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6100/chronic-granulomatous-disease xsd:anyURI {source="GARD:0006100"} [Term] id: MONDO:0018306 name: Griscelli syndrome def: "Griscelli syndrome (GS) is characterized by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3)." [Orphanet:381] subset: gard_rare {source="GARD:0010913"} subset: ordo_disease {source="Orphanet:381"} synonym: "ChC)diak-Higashi-like syndrome" EXACT [Orphanet:381] synonym: "Chédiak-Higashi-like syndrome" EXACT [DOID:0060831] synonym: "Ch��diak-Higashi-like syndrome" EXACT [DOID:0060831] synonym: "Griscelli disease" RELATED [GARD:0010913] synonym: "Griscelli-PruniC)ras syndrome" EXACT [Orphanet:381] synonym: "Griscelli-Pruniéras syndrome" EXACT [DOID:0060831] synonym: "Griscelli-Pruni��ras syndrome" EXACT [DOID:0060831] synonym: "partial albinism-immunodeficiency syndrome" EXACT [DOID:0060831, Orphanet:381] xref: DOID:0060831 {source="MONDO:equivalentTo"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="DOID:0060831", source="Orphanet:381", source="Orphanet:381/attributed", source="Orphanet:381/ntbt"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIMPS:214450 {source="DOID:0060831", source="MONDO:equivalentTo"} xref: Orphanet:381 {source="DOID:0060831", source="MONDO:equivalentTo"} xref: SCTID:37548006 {source="MONDO:equivalentTo"} xref: UMLS:CN204933 {source="MONDO:equivalentTo"} is_a: MONDO:0017305 {source="Orphanet:381"} ! syndromic oculocutaneous albinism property_value: exactMatch DOID:0060831 property_value: exactMatch http://identifiers.org/snomedct/37548006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204933 property_value: exactMatch https://omim.org/phenotypicSeries/PS214450 property_value: exactMatch Orphanet:381 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10913/griscelli-syndrome xsd:anyURI {source="GARD:0010913"} [Term] id: MONDO:0018307 name: neurodegeneration with brain iron accumulation def: "Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." [Orphanet:385] comment: Editor note: check relationship to PKAN subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:385"} synonym: "NBIA" EXACT ABBREVIATION [DOID:0110734, Orphanet:385] synonym: "neurodegeneration with brain iron accumulation" EXACT [] xref: DOID:0110734 {source="MONDO:equivalentTo"} xref: MESH:C538421 {source="DOID:0110734", source="Orphanet:385/e", source="MONDO:equivalentTo", source="Orphanet:385"} xref: OMIMPS:234200 {source="DOID:0110734", source="MONDO:equivalentTo"} xref: Orphanet:385 {source="DOID:0110734", source="MONDO:equivalentTo"} is_a: EFO:0004280 ! movement disorder is_a: MONDO:0002279 {source="MESH:C538421"} ! iron metabolism disease is_a: MONDO:0002283 {source="MESH:C538421"} ! neuroaxonal dystrophy is_a: MONDO:0015547 {source="MONDO:Redundant", source="Orphanet:385", source="Orphanet:385/inferred"} ! hereditary dementia is_a: MONDO:0019052 ! inborn errors of metabolism is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:385", source="Orphanet:385/inferred"} ! inherited neurodegenerative disorder relationship: disease_arises_from_feature EFO:0005772 ! neurodegenerative disease relationship: disease_has_major_feature MONDO:0001627 {source="Orphanet:385"} ! dementia relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch DOID:0110734 property_value: exactMatch http://identifiers.org/mesh/C538421 property_value: exactMatch https://omim.org/phenotypicSeries/PS234200 property_value: exactMatch Orphanet:385 [Term] id: MONDO:0018309 name: Hirschsprung disease def: "Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon." [Orphanet:388] subset: ordo_disease {source="Orphanet:388"} synonym: "aganglionic megacolon" EXACT [DOID:10487, NCIT:C34700, Orphanet:388] synonym: "congenital intestinal aganglionosis" EXACT [Orphanet:388] synonym: "congenital megacolon" EXACT [DOID:10487] synonym: "Hirschsprung disease" EXACT [DOID:10487] synonym: "Hirschsprung disease susceptibility" EXACT [MONDO:cjm] synonym: "Hirschsprung's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] synonym: "HSCR" EXACT ABBREVIATION [Orphanet:388] synonym: "macrocolon" RELATED [DOID:10487] synonym: "pelvirectal achalasia" EXACT [DOID:10487] xref: DOID:10487 {source="MONDO:equivalentTo"} xref: MedDRA:10010539 {source="Orphanet:388/e", source="Orphanet:388"} xref: MESH:D006627 {source="Orphanet:388/e", source="MONDO:equivalentTo", source="DOID:10487", source="Orphanet:388"} xref: NCIT:C34700 {source="MONDO:equivalentTo", source="DOID:10487"} xref: OMIMPS:142623 {source="MONDO:equivalentTo"} xref: Orphanet:388 {source="MONDO:equivalentTo", source="DOID:10487"} xref: SCTID:204739008 {source="MONDO:equivalentTo"} xref: UMLS:C0019569 {source="Orphanet:388/e", source="MONDO:equivalentTo", source="NCIT:C34700", source="DOID:10487", source="Orphanet:388"} xref: UMLS:C3661523 {source="MONDO:equivalentTo", source="Orphanet:388"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0021189 {source="Orphanet:388"} ! intestinal motility disease is_a: MONDO:0021635 {source="Wikipedia:Neurocristopathy"} ! neurocristopathy relationship: has_characteristic MONDO:0021136 {source="MONDO:0015184"} ! rare property_value: closeMatch http://identifiers.org/meddra/10010539 property_value: exactMatch DOID:10487 property_value: exactMatch http://identifiers.org/mesh/D006627 property_value: exactMatch http://identifiers.org/snomedct/204739008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019569 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3661523 property_value: exactMatch https://omim.org/phenotypicSeries/PS142623 property_value: exactMatch NCIT:C34700 property_value: exactMatch Orphanet:388 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0018314 name: infantile-onset mesial temporal lobe epilepsy with severe cognitive regression def: "A rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities." [Orphanet:391316] subset: ordo_disease {source="Orphanet:391316"} xref: Orphanet:391316 {source="MONDO:equivalentTo"} xref: UMLS:CN204956 {source="MONDO:equivalentTo"} is_a: MONDO:0015653 {source="Orphanet:391316"} ! monogenic epilepsy is_a: MONDO:0020071 {source="Orphanet:391316"} ! infantile epilepsy syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204956 property_value: exactMatch Orphanet:391316 [Term] id: MONDO:0018315 name: X-linked osteoporosis with fractures subset: ordo_disease {source="Orphanet:391330"} xref: OMIM:300910 {source="MONDO:relatedTo", source="Orphanet:391330", source="Orphanet:391330/nd"} xref: Orphanet:391330 {source="MONDO:equivalentTo"} is_a: EFO:0003882 {source="https://orcid.org/0000-0001-5208-3432"} ! osteoporosis property_value: exactMatch Orphanet:391330 property_value: excluded_subClassOf MONDO:0019704 {source="Orphanet:391330"} property_value: relatedMatch https://omim.org/entry/300910 [Term] id: MONDO:0018316 name: fatal post-viral neurodegenerative disorder subset: ordo_disease {source="Orphanet:391343"} xref: Orphanet:391343 {source="MONDO:equivalentTo"} xref: UMLS:CN204961 {source="MONDO:equivalentTo"} is_a: MONDO:0015144 {source="Orphanet:391343"} ! brain inflammatory disease is_a: MONDO:0024237 {source="Orphanet:391343"} ! inherited neurodegenerative disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204961 property_value: exactMatch Orphanet:391343 [Term] id: MONDO:0018317 name: growth retardation-mild developmental delay-chronic hepatitis syndrome subset: ordo_disease {source="Orphanet:391366"} xref: Orphanet:391366 {source="MONDO:equivalentTo"} xref: UMLS:CN204964 {source="MONDO:equivalentTo"} is_a: MONDO:0015508 {source="Orphanet:391366"} ! hereditary parenchymatous liver disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204964 property_value: exactMatch Orphanet:391366 [Term] id: MONDO:0018318 name: disorder of asparagine metabolism comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:391381"} xref: Orphanet:391381 {source="MONDO:equivalentTo"} xref: UMLS:CN227320 {source="MONDO:equivalentTo"} is_a: MONDO:0019189 {source="Orphanet:391381"} ! inborn disorder of amino acid and other organic acid metabolism property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227320 property_value: exactMatch Orphanet:391381 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0018319 name: familial episodic pain syndrome subset: gard_rare {source="GARD:0012684"} subset: ordo_disease {source="Orphanet:391384"} synonym: "FEPS" EXACT ABBREVIATION [Orphanet:391384] xref: DOID:0111728 {source="MONDO:equivalentTo"} xref: OMIMPS:615040 {source="MONDO:equivalentTo"} xref: Orphanet:391384 {source="MONDO:equivalentTo"} xref: UMLS:CN204967 {source="MONDO:equivalentTo"} xref: UMLS:CN228162 {source="MONDO:equivalentTo"} is_a: EFO:0009430 ! neuralgia is_a: MONDO:0020127 {source="Orphanet:391384"} ! hereditary peripheral neuropathy property_value: exactMatch DOID:0111728 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204967 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN228162 property_value: exactMatch https://omim.org/phenotypicSeries/PS615040 property_value: exactMatch Orphanet:391384 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12684/familial-episodic-pain-syndrome xsd:anyURI {source="GARD:0012684"} [Term] id: MONDO:0018320 name: primary microcephaly-mild intellectual disability-young-onset diabetes syndrome subset: ordo_disease {source="Orphanet:391408"} xref: Orphanet:391408 {source="MONDO:equivalentTo"} xref: UMLS:CN204971 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015967", source="MONDO:0015983"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204971 property_value: exactMatch Orphanet:391408 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:391408"} property_value: excluded_subClassOf MONDO:0005015 {source="MONDO:0015887-obsoleted", source="MONDO:Redundant", source="Orphanet:391408"} property_value: excluded_subClassOf MONDO:0031481 {source="Orphanet:391408"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5723 xsd:anyURI [Term] id: MONDO:0018321 name: atypical juvenile parkinsonism def: "Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms." [Orphanet:391411] subset: ordo_disease {source="Orphanet:391411"} xref: Orphanet:391411 {source="MONDO:equivalentTo"} xref: SCTID:725146001 {source="MONDO:equivalentTo"} xref: UMLS:C4510873 {source="MONDO:equivalentTo"} xref: UMLS:CN204972 {source="MONDO:equivalentTo"} is_a: MONDO:0021095 {source="MONDO:0017661-obsoleted"} ! parkinsonian disorder property_value: exactMatch http://identifiers.org/snomedct/725146001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510873 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204972 property_value: exactMatch Orphanet:391411 [Term] id: MONDO:0018322 name: HSD10 disease, infantile type def: "HSD10 disease, infantile type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. It is characterized by normal early development until 6-18 months of life, followed by progressive neurodegeneration manifesting with developmental regression, progressive visual and hearing troubles, seizures, epilepsy, severe cardiomyopathy, lethargy, hypotonia, poor feeding, choreoathetosis, and movement disorders. Elevated blood levels of isoleucine metabolites and their excretion in urine are reported. The disease is usually fatal around 2-4 years of age." [Orphanet:391428] subset: ordo_clinical_subtype {source="Orphanet:391428"} synonym: "2-methyl-3-hydroxybutyric aciduria, classic type" EXACT [Orphanet:391428] synonym: "2-methyl-3-hydroxybutyric aciduria, infantile type" EXACT [Orphanet:391428] synonym: "2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type" EXACT [Orphanet:391428] synonym: "2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type" EXACT [Orphanet:391428] synonym: "HSD10 deficiency, classic type" EXACT [Orphanet:391428] synonym: "HSD10 deficiency, infantile type" EXACT [Orphanet:391428] synonym: "HSD10 disease, classic type" EXACT [Orphanet:391428] synonym: "MHBD deficiency, classic type" EXACT [Orphanet:391428] synonym: "MHBD deficiency, infantile type" EXACT [Orphanet:391428] xref: Orphanet:391428 {source="MONDO:equivalentTo"} xref: UMLS:CN204974 {source="MONDO:equivalentTo"} is_a: MONDO:0010327 {source="Orphanet:391428"} ! HSD10 mitochondrial disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204974 property_value: exactMatch Orphanet:391428 [Term] id: MONDO:0018323 name: HSD10 disease, neonatal type def: "HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by onset of severe metabolic/lactic acidosis, neurological and psychomotor delay, seizures and severe progressive hypertrophic cardiomyopathy in the neonatal period. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life." [Orphanet:391457] subset: ordo_clinical_subtype {source="Orphanet:391457"} synonym: "2-methyl-3-hydroxybutyric aciduria, neonatal type" EXACT [Orphanet:391457] synonym: "2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type" EXACT [Orphanet:391457] synonym: "HSD10 deficiency, neonatal type" EXACT [Orphanet:391457] synonym: "MHBD deficiency, neonatal type" EXACT [Orphanet:391457] xref: Orphanet:391457 {source="MONDO:equivalentTo"} xref: UMLS:CN204975 {source="MONDO:equivalentTo"} is_a: MONDO:0010327 {source="Orphanet:391457"} ! HSD10 mitochondrial disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204975 property_value: exactMatch Orphanet:391457 [Term] id: MONDO:0018327 name: glomus tumor def: "A rare benign or malignant mesenchymal neoplasm arising from cells that resemble the modified smooth muscle cells of the glomus body. The majority of glomus tumors occur in the distal extremities." [NCIT:C3060] subset: ordo_disease {source="Orphanet:391651"} synonym: "glomus neoplasm" EXACT [DOID:2431, NCIT:C3060] synonym: "glomus tumor" EXACT [DOID:2431, NCIT:C3060] xref: DOID:2431 {source="MONDO:equivalentTo"} xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8711/0 {source="NCIT:C3060"} xref: MESH:D005918 {source="DOID:2431", source="MONDO:equivalentTo"} xref: NCIT:C3060 {source="DOID:2431", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: Orphanet:391651 {source="MONDO:equivalentTo"} xref: SCTID:403969002 {source="DOID:2431", source="MONDO:equivalentTo"} xref: UMLS:C0017653 {source="DOID:2431", source="MONDO:equivalentTo", source="Orphanet:391651", source="NCIT:C3060"} is_a: EFO:1000541 {source="Orphanet:391651"} ! Soft Tissue Neoplasm is_a: MONDO:0002604 {source="DOID:2431/inferred", source="MONDO:Redundant", source="NCIT:C3060"} ! pericytic neoplasm relationship: has_characteristic MONDO:0021136 {source="MONDO:0019099"} ! rare property_value: exactMatch DOID:2431 property_value: exactMatch http://identifiers.org/mesh/D005918 property_value: exactMatch http://identifiers.org/snomedct/403969002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017653 property_value: exactMatch NCIT:C3060 property_value: exactMatch Orphanet:391651 property_value: excluded_subClassOf MONDO:0002789 {source="DOID:2431"} [Term] id: MONDO:0018328 name: homozygous familial hypercholesterolemia subset: ordo_disease {source="Orphanet:391665"} synonym: "HoFH" EXACT [Orphanet:391665] synonym: "homozygous familial hypercholesterolemia" EXACT [] xref: MESH:D000090542 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: Orphanet:391665 {source="MONDO:equivalentTo"} xref: SCTID:238078005 {source="MONDO:equivalentTo"} is_a: EFO:0004911 {source="https://orcid.org/0000-0001-5208-3432"} ! familial hypercholesterolemia relationship: has_characteristic MONDO:0021136 {source="MONDO:0018799"} ! rare property_value: exactMatch http://identifiers.org/mesh/D000090542 property_value: exactMatch http://identifiers.org/snomedct/238078005 property_value: exactMatch Orphanet:391665 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5537 xsd:anyURI [Term] id: MONDO:0018329 name: persistent combined dystonia comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:391711"} xref: Orphanet:391711 {source="MONDO:equivalentTo"} is_a: MONDO:0020065 {source="Orphanet:391711"} ! combined dystonia property_value: exactMatch Orphanet:391711 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0018330 name: mucinous adenocarcinoma of the appendix def: "Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of mucin within the peritoneal cavity), however some patients may be completely asymptomatic at the time of diagnosis. In many cases, a second gastrointestinal malignancy is present." [Orphanet:391723] subset: ordo_disease {source="Orphanet:391723"} synonym: "appendiceal mucinous adenocarcinoma" EXACT [Orphanet:391723] synonym: "appendix mucinous adenocarcinoma" EXACT [NCIT:C43558] synonym: "vermiform appendix mucinous adenocarcinoma" EXACT [MONDO:patterns/location] xref: NCIT:C43558 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:MAAP {source="MONDO:equivalentTo"} xref: Orphanet:391723 {source="MONDO:equivalentTo"} xref: UMLS:C1706832 {source="MONDO:equivalentTo", source="NCIT:C43558", source="Orphanet:391723"} is_a: EFO:0000364 ! colon mucinous adenocarcinoma is_a: EFO:1000088 {source="MONDO:Redundant", source="NCIT:C43558", source="ONCOTREE:MAAP"} ! Appendix Adenocarcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1706832 property_value: exactMatch NCIT:C43558 property_value: exactMatch Orphanet:391723 [Term] id: MONDO:0018332 name: multiple acyl-CoA dehydrogenase deficiency, severe neonatal type subset: ordo_clinical_subtype {source="Orphanet:394529"} synonym: "glutaric aciduria type 2, severe neonatal type" EXACT [Orphanet:394529] synonym: "MAD deficiency, severe neonatal type" EXACT [Orphanet:394529] synonym: "MADD, severe neonatal type" EXACT [Orphanet:394529] xref: Orphanet:394529 {source="MONDO:equivalentTo"} xref: UMLS:CN205004 {source="MONDO:equivalentTo"} is_a: MONDO:0009282 {source="Orphanet:394529"} ! multiple acyl-CoA dehydrogenase deficiency property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205004 property_value: exactMatch Orphanet:394529 [Term] id: MONDO:0018333 name: multiple acyl-CoA dehydrogenase deficiency, mild type subset: ordo_clinical_subtype {source="Orphanet:394532"} synonym: "glutaric aciduria type 2, mild type" EXACT [Orphanet:394532] synonym: "MAD deficiency, mild type" EXACT [Orphanet:394532] synonym: "MADD, mild type" EXACT [Orphanet:394532] xref: Orphanet:394532 {source="MONDO:equivalentTo"} xref: UMLS:CN205005 {source="MONDO:equivalentTo"} is_a: MONDO:0009282 {source="Orphanet:394532"} ! multiple acyl-CoA dehydrogenase deficiency property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205005 property_value: exactMatch Orphanet:394532 [Term] id: MONDO:0018335 name: obsolete deep dermatophytosis property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4128 xsd:anyURI is_obsolete: true replaced_by: MONDO:0021660 [Term] id: MONDO:0018337 name: severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: obsoletion_candidate subset: ordo_disease {source="Orphanet:397593"} xref: Orphanet:397593 {source="MONDO:equivalentTo"} is_a: MONDO:0044970 {source="Orphanet:397593"} ! mitochondrial disease property_value: exactMatch Orphanet:397593 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0018338 name: activated PI3K-delta syndrome subset: ordo_disease {source="Orphanet:397596"} synonym: "APDS" EXACT ABBREVIATION [Orphanet:397596] synonym: "senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation" EXACT [Orphanet:397596] xref: ICD9:279.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C585640 {source="MONDO:equivalentTo"} xref: Orphanet:397596 {source="MONDO:equivalentTo"} xref: SCTID:711480000 {source="MONDO:equivalentTo"} xref: UMLS:C3714976 {source="Orphanet:397596", source="MONDO:equivalentTo"} is_a: MONDO:0015977 {source="Orphanet:397596"} ! agammaglobulinemia property_value: exactMatch http://identifiers.org/mesh/C585640 property_value: exactMatch http://identifiers.org/snomedct/711480000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3714976 property_value: exactMatch Orphanet:397596 [Term] id: MONDO:0018339 name: PrP systemic amyloidosis def: "Prion protein (PrP) systemic amyloidosis, previously known as chronic diarrhea with hereditary sensory and autonomic neuropathy is an extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid." [Orphanet:397606] subset: ordo_disease {source="Orphanet:397606"} synonym: "chronic diarrhea with hereditary sensory and autonomic neuropathy" EXACT [Orphanet:397606] synonym: "chronic diarrhea with HSAN" EXACT [Orphanet:397606] synonym: "chronic diarrhoea with hereditary sensory and autonomic neuropathy" EXACT OMO:0003005 [] synonym: "chronic diarrhoea with HSAN" EXACT OMO:0003005 [] synonym: "prion protein systemic amyloidosis" EXACT [Orphanet:397606] xref: Orphanet:397606 {source="MONDO:equivalentTo"} xref: SCTID:733422008 {source="MONDO:equivalentTo"} xref: UMLS:C4518776 {source="MONDO:equivalentTo"} is_a: MONDO:0015365 {source="Orphanet:397606"} ! autosomal dominant hereditary sensory and autonomic neuropathy is_a: MONDO:0017234 {source="Orphanet:397606"} ! inherited prion disease property_value: exactMatch http://identifiers.org/snomedct/733422008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518776 property_value: exactMatch Orphanet:397606 property_value: excluded_subClassOf MONDO:0005020 {source="Orphanet:397606"} [Term] id: MONDO:0018340 name: hereditary isolated aplastic anemia comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: obsoletion_candidate subset: ordo_disease {source="Orphanet:397692"} xref: Orphanet:397692 {source="MONDO:equivalentTo"} is_a: MONDO:0001713 {source="Orphanet:397692"} ! inherited aplastic anemia property_value: exactMatch Orphanet:397692 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0018341 name: 3q27.3 microdeletion syndrome def: "A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus." [Orphanet:397695] subset: ordo_disease {source="Orphanet:397695"} synonym: "Del(3)(q27.3)" EXACT [Orphanet:397695] xref: Orphanet:397695 {source="MONDO:equivalentTo"} xref: UMLS:CN225942 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:397695"} ! syndromic intellectual disability is_a: MONDO:0000761 ! syndrome caused by partial chromosomal deletion is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:397695"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN225942 property_value: exactMatch Orphanet:397695 property_value: excluded_subClassOf MONDO:0016902 {source="Orphanet:397695"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0018342 name: Joubert syndrome with Jeune asphyxiating thoracic dystrophy def: "Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes." [Orphanet:397715] subset: ordo_malformation_syndrome {source="Orphanet:397715"} synonym: "JBTS with JATD" EXACT [Orphanet:397715] synonym: "Joubert syndrome with JATD" EXACT [Orphanet:397715] xref: Orphanet:397715 {source="MONDO:equivalentTo"} xref: SCTID:733418003 {source="MONDO:equivalentTo"} xref: UMLS:C4518774 {source="MONDO:equivalentTo"} xref: UMLS:CN225944 {source="MONDO:equivalentTo"} is_a: MONDO:0015369 {source="Orphanet:397715"} ! Joubert syndrome and related disorders is_a: MONDO:0015461 {source="Orphanet:397715"} ! short rib-polydactyly syndrome property_value: exactMatch http://identifiers.org/snomedct/733418003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518774 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN225944 property_value: exactMatch Orphanet:397715 [Term] id: MONDO:0018343 name: periodic paralysis with later-onset distal motor neuropathy subset: ordo_disease {source="Orphanet:397750"} xref: Orphanet:397750 {source="MONDO:equivalentTo"} is_a: EFO:1001902 {source="Orphanet:397750"} ! neuromuscular disease is_a: MONDO:0000995 ! familial periodic paralysis is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder property_value: exactMatch Orphanet:397750 [Term] id: MONDO:0018344 name: obsolete periodic paralysis with transient compartment-like syndrome comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingPhenotype. Term to consider: -none subset: ordo_disease {source="Orphanet:397755"} xref: Orphanet:397755 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN226077 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226077 property_value: exactMatch Orphanet:397755 property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6008 xsd:anyURI is_obsolete: true [Term] id: MONDO:0018346 name: ferro-cerebro-cutaneous syndrome subset: ordo_disease {source="Orphanet:397922"} synonym: "cerebro-cutaneous syndrome with iron overload" EXACT [Orphanet:397922] synonym: "FCCS" EXACT ABBREVIATION [OMIM:301072] xref: OMIM:301072 {source="MONDO:equivalentTo"} xref: Orphanet:397922 {source="MONDO:equivalentTo"} xref: UMLS:CN226080 {source="MONDO:equivalentTo"} is_a: MONDO:0015508 {source="MONDO:Redundant", source="Orphanet:397922"} ! hereditary parenchymatous liver disease is_a: MONDO:0019052 ! inborn errors of metabolism is_a: MONDO:0024237 {source="Orphanet:397922"} ! inherited neurodegenerative disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226080 property_value: exactMatch https://omim.org/entry/301072 property_value: exactMatch Orphanet:397922 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5349 xsd:anyURI [Term] id: MONDO:0018347 name: severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome subset: ordo_disease {source="Orphanet:397933"} synonym: "IQSEC2-related syndromic intellectual disability" EXACT [Orphanet:397933] synonym: "severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome" RELATED [Orphanet:397933] xref: Orphanet:397933 {source="MONDO:equivalentTo"} xref: UMLS:CN226082 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226082 property_value: exactMatch Orphanet:397933 property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:397933"} [Term] id: MONDO:0018348 name: obsolete polyglucosan body myopathy type 1 property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2668 xsd:anyURI is_obsolete: true replaced_by: MONDO:0014389 [Term] id: MONDO:0018349 name: MAN1B1-congenital disorder of glycosylation def: "MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3)." [Orphanet:397941] subset: gard_rare {source="GARD:0012417"} subset: ordo_disease {source="Orphanet:397941"} synonym: "carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency" EXACT [Orphanet:397941] synonym: "congenital disorder of glycosylation type 2 due to MAN1B1 deficiency" EXACT [Orphanet:397941] synonym: "congenital disorder of glycosylation type II due to MAN1B1 deficiency" EXACT [Orphanet:397941] synonym: "intellectual disability-truncal obesity syndrome" EXACT [Orphanet:397941] synonym: "MAN1B1-CDG" EXACT ABBREVIATION [Orphanet:397941] synonym: "MAN1B1-congenital disorder of glycosylation" EXACT [Orphanet:397941] xref: Orphanet:397941 {source="MONDO:equivalentTo"} xref: SCTID:733450008 {source="MONDO:equivalentTo"} xref: UMLS:C4518783 {source="MONDO:equivalentTo"} is_a: MONDO:0017740 {source="Orphanet:397941"} ! disorder of protein N-glycosylation property_value: exactMatch http://identifiers.org/snomedct/733450008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518783 property_value: exactMatch Orphanet:397941 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12417/man1b1-cdg xsd:anyURI {source="GARD:0012417"} [Term] id: MONDO:0018352 name: squamous cell carcinoma of penis def: "A squamous cell carcinoma arising from the penis. It occurs chiefly in the squamous epithelium of the glans, coronal sulcus, and foreskin. Etiologic factors include phimosis, lichen sclerosus, smoking, ultraviolet irradiation, history of warts or condylomas, and lack of circumcision. Human papilloma virus is present in a subset of penile squamous cell carcinomas. Patients may present with an exophytic or flat ulcerative mass in the glans or a large primary tumor with inguinal nodal and skin metastases. Morphologic variants include the basaloid carcinoma, warty (condylomatous) carcinoma, verrucous carcinoma, and sarcomatoid (spindle cell) carcinoma. (WHO, 2004)" [NCIT:C7729] subset: ordo_disease {source="Orphanet:398058"} synonym: "epidermoid carcinoma of penis" EXACT [NCIT:C7729] synonym: "epidermoid carcinoma of the penis" EXACT [NCIT:C7729] synonym: "epidermoid cell carcinoma of penis" EXACT [DOID:5518, NCIT:C7729] synonym: "epidermoid cell carcinoma of the penis" EXACT [NCIT:C7729] synonym: "penile epidermoid carcinoma" EXACT [NCIT:C7729] synonym: "penile epidermoid cell carcinoma" EXACT [NCIT:C7729] synonym: "penile squamous car.(epidermoid)" EXACT [NCIT:C7729] synonym: "penile squamous carcinoma (epidermoid)" EXACT [NCIT:C7729] synonym: "penile squamous cell cancer" EXACT [NCIT:C7729] synonym: "penile squamous cell carcinoma" EXACT [NCIT:C7729, Orphanet:398058] synonym: "penis squamous cell carcinoma" EXACT [MONDO:0003484, MONDO:patterns/location] synonym: "PSCC" RELATED ABBREVIATION [ONCOTREE:PSCC] synonym: "squamous cell carcinoma of penis" EXACT [DOID:5518, NCIT:C7729] synonym: "squamous cell carcinoma of the penis" EXACT [NCIT:C7729] xref: DOID:5518 {source="MONDO:equivalentTo"} xref: NCIT:C7729 {source="MONDO:equivalentTo", source="DOID:5518"} xref: ONCOTREE:PSCC {source="MONDO:equivalentTo"} xref: Orphanet:398058 {source="MONDO:equivalentTo"} xref: SCTID:403468003 {source="MONDO:equivalentTo", source="DOID:5518"} xref: UMLS:C0238348 {source="Orphanet:398058", source="MONDO:equivalentTo", source="DOID:5518", source="NCIT:C7729"} is_a: EFO:0000707 {source="DOID:5518", source="MONDO:Redundant", source="NCIT:C7729"} ! squamous cell carcinoma is_a: EFO:1000465 {source="DOID:5518", source="MONDO:Redundant", source="NCIT:C7729"} ! Penile Carcinoma property_value: exactMatch DOID:5518 property_value: exactMatch http://identifiers.org/snomedct/403468003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238348 property_value: exactMatch NCIT:C7729 property_value: exactMatch Orphanet:398058 [Term] id: MONDO:0018354 name: Prader-Willi-like syndrome def: "Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) ocurring in the absence of 15q11-q13 genomic abnormalities." [Orphanet:398073] subset: ordo_disease {source="Orphanet:398073"} synonym: "PWS-like" EXACT [Orphanet:398073] xref: Orphanet:398073 {source="MONDO:equivalentTo"} xref: UMLS:CN226094 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015160 {source="Orphanet:398073"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism is_a: MONDO:0016565 {source="Orphanet:398073"} ! syndromic genetic obesity property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226094 property_value: exactMatch Orphanet:398073 [Term] id: MONDO:0018355 name: SIM1-related Prader-Willi-like syndrome subset: ordo_clinical_subtype {source="Orphanet:398079"} synonym: "Prader-Willi-like syndrome due to a point mutation" RELATED DEPRECATED [Orphanet:398079] synonym: "PWS-like due to a point mutation" RELATED DEPRECATED [Orphanet:398079] synonym: "PWS-like due to point mutation" RELATED DEPRECATED [Orphanet:398079] synonym: "SIM1-related PWLS" EXACT [Orphanet:398079] xref: Orphanet:398079 {source="MONDO:equivalentTo"} xref: UMLS:CN226095 {source="MONDO:equivalentTo"} is_a: MONDO:0018354 {source="Orphanet:398079"} ! Prader-Willi-like syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226095 property_value: exactMatch Orphanet:398079 [Term] id: MONDO:0018356 name: secondary neonatal autoimmune disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:398091"} synonym: "Transplacentally acquired neonatal autoimmune disease" EXACT [Orphanet:398091] xref: Orphanet:398091 {source="MONDO:equivalentTo"} xref: UMLS:CN226097 {source="MONDO:equivalentTo"} is_a: EFO:0005809 {source="Orphanet:398091"} ! type II hypersensitivity reaction disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226097 property_value: exactMatch Orphanet:398091 [Term] id: MONDO:0018363 name: focal facial dermal dysplasia def: "Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies." [Orphanet:398166] subset: ordo_malformation_syndrome {source="Orphanet:398166"} synonym: "FFDD" EXACT ABBREVIATION [Orphanet:398166] xref: MESH:C537068 {source="MONDO:equivalentTo"} xref: OMIMPS:136500 {source="MONDO:equivalentTo"} xref: Orphanet:398166 {source="MONDO:equivalentTo"} is_a: MONDO:0019287 {source="Orphanet:398166"} ! ectodermal dysplasia syndrome property_value: exactMatch http://identifiers.org/mesh/C537068 property_value: exactMatch https://omim.org/phenotypicSeries/PS136500 property_value: exactMatch Orphanet:398166 [Term] id: MONDO:0018364 name: malignant epithelial tumor of ovary def: "An invasive malignant tumor that originates from the surface epithelium of the ovary. It is composed of malignant epithelial cells and stroma. Representative examples include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, clear cell adenocarcinoma, and malignant Brenner tumor." [NCIT:C40026] comment: Editor note: check inference with carcinoma subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:398934"} synonym: "epithelial cancer of ovary" EXACT [Orphanet:398934] synonym: "malignant ovarian epithelial tumor" EXACT [NCIT:C40026] synonym: "malignant ovarian epithelial tumour" EXACT OMO:0003005 [] synonym: "malignant ovarian surface epithelial-stromal neoplasm" EXACT [DOID:2151, https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/167, NCIT:C40026] synonym: "malignant ovarian surface epithelial-stromal tumor" EXACT [NCIT:C40026] synonym: "malignant ovarian surface epithelial-stromal tumour" EXACT OMO:0003005 [] synonym: "ovarian epithelial cancer" EXACT [Orphanet:398934] synonym: "ovarian epithelial tumor, malignant" EXACT [MONDO:patterns/malignant] synonym: "ovarian malignant epithelial tumor" EXACT [Orphanet:398934] synonym: "ovarian malignant epithelial tumour" EXACT OMO:0003005 [] synonym: "ovarian stromal cancer" EXACT [NCIT:C40026] xref: DOID:2151 {source="MONDO:equivalentTo"} xref: MESH:C538090 {source="MONDO:equivalentTo"} xref: NCIT:C40026 {source="MONDO:equivalentTo", source="DOID:2151"} xref: Orphanet:398934 {source="MONDO:equivalentTo"} xref: SCTID:254849005 {source="MONDO:equivalentTo"} is_a: EFO:0000313 ! carcinoma is_a: MONDO:0002229 {source="DOID:2151", source="MONDO:Redundant", source="NCIT:C40026"} ! ovarian epithelial tumor is_a: MONDO:0008170 {source="DOID:2151/inferred", source="MESH:C538090", source="MONDO:Redundant", source="NCIT:C40026", source="Orphanet:398934"} ! ovarian cancer disjoint_from: MONDO:0018365 ! malignant non-epithelial tumor of ovary property_value: exactMatch DOID:2151 property_value: exactMatch http://identifiers.org/mesh/C538090 property_value: exactMatch http://identifiers.org/snomedct/254849005 property_value: exactMatch NCIT:C40026 property_value: exactMatch Orphanet:398934 [Term] id: MONDO:0018365 name: malignant non-epithelial tumor of ovary comment: Editor note: consider axiomatizing. This includes sex-cord and germ cell. Note some GCTs have names suggesting epithelial original such as embryonal/choriocarcinoma subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:398940"} synonym: "non-epithelial cancer of ovary" EXACT [Orphanet:398940] synonym: "ovarian malignant non-epithelial tumor" EXACT [Orphanet:398940] synonym: "ovarian malignant non-epithelial tumour" EXACT OMO:0003005 [] synonym: "ovarian non-epithelial cancer" EXACT [Orphanet:398940] xref: Orphanet:398940 {source="MONDO:equivalentTo"} xref: UMLS:CN205032 {source="MONDO:equivalentTo"} is_a: MONDO:0008170 {source="Orphanet:398940"} ! ovarian cancer property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205032 property_value: exactMatch Orphanet:398940 [Term] id: MONDO:0018370 name: KLHL9-related early-onset distal myopathy def: "KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life." [Orphanet:399081] subset: ordo_disease {source="Orphanet:399081"} xref: Orphanet:399081 {source="MONDO:equivalentTo"} xref: SCTID:763776004 {source="MONDO:equivalentTo"} is_a: MONDO:0016108 {source="Orphanet:399081"} ! autosomal dominant distal myopathy property_value: exactMatch http://identifiers.org/snomedct/763776004 property_value: exactMatch Orphanet:399081 [Term] id: MONDO:0018371 name: nebulin-related early-onset distal myopathy subset: ordo_disease {source="Orphanet:399103"} synonym: "distal nebulin myopathy" RELATED [Orphanet:399103] xref: Orphanet:399103 {source="MONDO:equivalentTo"} is_a: MONDO:0016109 {source="Orphanet:399103"} ! autosomal recessive distal myopathy property_value: exactMatch Orphanet:399103 [Term] id: MONDO:0018373 name: avascular necrosis def: "Necrotic changes in the bone tissue due to interruption of blood supply. Most often affecting the epiphysis of the long bones, the necrotic changes result in the collapse and the destruction of the bone structure." [NCIT:C34841] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:399164"} synonym: "avascular necrosis of bone" EXACT [DOID:10159, NCIT:C34841] synonym: "AVN" EXACT ABBREVIATION [Orphanet:399164] xref: NCIT:C34841 {source="MONDO:equivalentTo"} xref: Orphanet:399164 {source="MONDO:equivalentTo"} xref: SCTID:397758007 {source="MONDO:equivalentTo"} is_a: EFO:0004259 {source="NCIT:C34841", source="Orphanet:399164"} ! osteonecrosis property_value: exactMatch http://identifiers.org/snomedct/397758007 property_value: exactMatch NCIT:C34841 property_value: exactMatch Orphanet:399164 [Term] id: MONDO:0018374 name: secondary avascular necrosis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:399169"} synonym: "secondary AVN" EXACT [Orphanet:399169] xref: Orphanet:399169 {source="MONDO:equivalentTo"} is_a: MONDO:0018373 {source="Orphanet:399169"} ! avascular necrosis property_value: exactMatch Orphanet:399169 [Term] id: MONDO:0018377 name: obsolete rare hereditary disease with avascular necrosis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:399185"} xref: Orphanet:399185 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN205038 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205038 property_value: exactMatch Orphanet:399185 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true [Term] id: MONDO:0018379 name: primary avascular necrosis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:399302"} synonym: "primary AVN" EXACT [Orphanet:399302] xref: Orphanet:399302 {source="MONDO:equivalentTo"} is_a: MONDO:0018373 {source="Orphanet:399302"} ! avascular necrosis property_value: exactMatch Orphanet:399302 [Term] id: MONDO:0018383 name: osteonecrosis of genetic origin def: "An instance of osteonecrosis that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:399380"} synonym: "bone necrosis of genetic origin" EXACT [Orphanet:399380] synonym: "genetic osteonecrosis" EXACT [MONDO:patterns/genetic] xref: Orphanet:399380 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0004259 ! osteonecrosis intersection_of: EFO:0004259 ! osteonecrosis intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch Orphanet:399380 [Term] id: MONDO:0018384 name: avascular necrosis of genetic origin def: "An instance of avascular necrosis that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:399388"} synonym: "genetic avascular necrosis" EXACT [MONDO:patterns/genetic] xref: Orphanet:399388 {source="MONDO:equivalentTo"} is_a: MONDO:0018373 ! avascular necrosis is_a: MONDO:0018383 {source="MONDO:Redundant", source="Orphanet:399388"} ! osteonecrosis of genetic origin intersection_of: MONDO:0018373 ! avascular necrosis intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch Orphanet:399388 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0018385 name: osteochondrosis of genetic origin def: "An instance of osteochondrosis that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:399391"} synonym: "genetic osteochondrosis" EXACT [MONDO:patterns/genetic] xref: Orphanet:399391 {source="MONDO:equivalentTo"} is_a: MONDO:0018383 {source="MONDO:Redundant", source="Orphanet:399391"} ! osteonecrosis of genetic origin property_value: exactMatch Orphanet:399391 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0018388 name: obsolete rare male infertility due to testicular endocrine disorder subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:399685"} xref: Orphanet:399685 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227336 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227336 property_value: exactMatch Orphanet:399685 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true [Term] id: MONDO:0018393 name: male infertility with azoospermia or oligozoospermia due to single gene mutation def: "Male infertility with azoospermia or oligospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal." [Orphanet:399805] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: obsoletion_candidate subset: ordo_disease {source="Orphanet:399805"} xref: Orphanet:399805 {source="MONDO:equivalentTo"} xref: UMLS:CN225947 {source="MONDO:equivalentTo"} is_a: EFO:0004248 {source="Orphanet:399805"} ! male infertility property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN225947 property_value: exactMatch Orphanet:399805 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0018394 name: male infertility with teratozoospermia due to single gene mutation def: "Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail." [Orphanet:399808] subset: ordo_disease {source="Orphanet:399808"} xref: Orphanet:399808 {source="MONDO:equivalentTo"} xref: SCTID:764096006 {source="MONDO:equivalentTo"} xref: UMLS:CN252642 {source="MONDO:equivalentTo"} is_a: EFO:0004248 {source="Orphanet:399808"} ! male infertility property_value: exactMatch http://identifiers.org/snomedct/764096006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN252642 property_value: exactMatch Orphanet:399808 [Term] id: MONDO:0018405 name: obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin def: "OBSOLETE. An instance of rare male infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:399983"} synonym: "genetic rare male infertility due to hypothalamic-pituitary-gonadal axis disorder" EXACT [MONDO:patterns/genetic] synonym: "rare male infertility due to gonadotropic axis disorder of genetic origin" EXACT [Orphanet:399983] synonym: "rare male infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin" EXACT [Orphanet:399983] xref: Orphanet:399983 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227350 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227350 property_value: exactMatch Orphanet:399983 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true [Term] id: MONDO:0018406 name: obsolete rare male infertility due to adrenal disorder of genetic origin subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:399994"} xref: Orphanet:399994 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227351 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227351 property_value: exactMatch Orphanet:399994 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true [Term] id: MONDO:0018409 name: obsolete rare genetic disorder with obstructive azoospermia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:400003"} synonym: "rare genetic disorder due to impaired sperm transport" EXACT [Orphanet:400003] xref: Orphanet:400003 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227352 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227352 property_value: exactMatch Orphanet:400003 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true [Term] id: MONDO:0018411 name: obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin def: "OBSOLETE. An instance of rare female infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:400011"} synonym: "genetic rare female infertility due to hypothalamic-pituitary-gonadal axis disorder" EXACT [MONDO:patterns/genetic] synonym: "rare female infertility due to gonadotropic axis disorder of genetic origin" EXACT [Orphanet:400011] synonym: "rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin" EXACT [Orphanet:400011] xref: Orphanet:400011 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227354 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227354 property_value: exactMatch Orphanet:400011 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true [Term] id: MONDO:0018412 name: obsolete rare female infertility due to adrenal disorder of genetic origin subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:400018"} xref: Orphanet:400018 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227355 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227355 property_value: exactMatch Orphanet:400018 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true [Term] id: MONDO:0018413 name: obsolete female infertility due to an anomaly of ovarian function of genetic origin subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:400022"} xref: Orphanet:400022 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227356 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227356 property_value: exactMatch Orphanet:400022 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true [Term] id: MONDO:0018416 name: autosomal recessive spastic paraplegia type 59 subset: ordo_disease {source="Orphanet:401795"} synonym: "SPG59" EXACT ABBREVIATION [Orphanet:401795] xref: Orphanet:401795 {source="MONDO:equivalentTo"} xref: UMLS:CN226121 {source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:401795"} ! autosomal recessive complex spastic paraplegia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226121 property_value: exactMatch Orphanet:401795 [Term] id: MONDO:0018417 name: autosomal recessive spastic paraplegia type 60 subset: ordo_disease {source="Orphanet:401800"} synonym: "SPG60" EXACT ABBREVIATION [Orphanet:401800] xref: Orphanet:401800 {source="MONDO:equivalentTo"} xref: UMLS:CN226122 {source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:401800"} ! autosomal recessive complex spastic paraplegia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226122 property_value: exactMatch Orphanet:401800 [Term] id: MONDO:0018418 name: autosomal recessive spastic paraplegia type 66 subset: ordo_disease {source="Orphanet:401815"} synonym: "SPG66" EXACT ABBREVIATION [Orphanet:401815] xref: Orphanet:401815 {source="MONDO:equivalentTo"} xref: UMLS:CN226125 {source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:401815"} ! autosomal recessive complex spastic paraplegia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226125 property_value: exactMatch Orphanet:401815 [Term] id: MONDO:0018419 name: autosomal recessive spastic paraplegia type 67 def: "Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities." [Orphanet:401820] subset: ordo_disease {source="Orphanet:401820"} synonym: "SPG67" EXACT ABBREVIATION [Orphanet:401820] xref: Orphanet:401820 {source="MONDO:equivalentTo"} xref: SCTID:766767001 {source="MONDO:equivalentTo"} xref: UMLS:CN226126 {source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:401820"} ! autosomal recessive complex spastic paraplegia property_value: exactMatch http://identifiers.org/snomedct/766767001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226126 property_value: exactMatch Orphanet:401820 [Term] id: MONDO:0018420 name: autosomal recessive spastic paraplegia type 68 subset: ordo_disease {source="Orphanet:401825"} synonym: "SPG68" EXACT ABBREVIATION [Orphanet:401825] xref: Orphanet:401825 {source="MONDO:equivalentObsolete"} xref: UMLS:CN226127 {source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:401825"} ! autosomal recessive complex spastic paraplegia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226127 [Term] id: MONDO:0018421 name: autosomal recessive spastic paraplegia type 69 subset: ordo_disease {source="Orphanet:401830"} synonym: "SPG69" EXACT ABBREVIATION [Orphanet:401830] xref: Orphanet:401830 {source="MONDO:equivalentTo"} xref: UMLS:CN226128 {source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:401830"} ! autosomal recessive complex spastic paraplegia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226128 property_value: exactMatch Orphanet:401830 [Term] id: MONDO:0018422 name: autosomal recessive spastic paraplegia type 70 def: "Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities." [Orphanet:401835] subset: ordo_disease {source="Orphanet:401835"} synonym: "SPG70" EXACT ABBREVIATION [Orphanet:401835] xref: Orphanet:401835 {source="MONDO:equivalentTo"} xref: UMLS:CN226129 {source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:401835"} ! autosomal recessive complex spastic paraplegia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226129 property_value: exactMatch Orphanet:401835 [Term] id: MONDO:0018423 name: autosomal recessive spastic paraplegia type 71 subset: ordo_disease {source="Orphanet:401840"} synonym: "SPG71" EXACT ABBREVIATION [Orphanet:401840] xref: Orphanet:401840 {source="MONDO:equivalentTo"} xref: UMLS:CN226130 {source="MONDO:equivalentTo"} is_a: MONDO:0015090 {source="Orphanet:401840"} ! autosomal recessive pure spastic paraplegia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226130 property_value: exactMatch Orphanet:401840 [Term] id: MONDO:0018424 name: inherited lipoic acid biosynthesis defect def: "An inherited metabolic disease that is has its basis in the disruption of lipoate biosynthetic process." [MONDO:patterns/inborn_metabolic] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:401854"} synonym: "inborn error of lipoate biosynthetic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn lipoate biosynthetic process disorder" EXACT [] synonym: "lipoate biosynthesis defect" EXACT [Orphanet:401854] synonym: "lipoic acid biosynthesis defect" RELATED [Orphanet:401854] synonym: "lipoic acid biosynthesis defects" RELATED [GARD:0012679] synonym: "rare inborn error of lipoate biosynthetic process" EXACT [MONDO:patterns/inborn_metabolic] xref: Orphanet:401854 {source="MONDO:equivalentTo"} is_a: MONDO:0004069 {source="Orphanet:401854"} ! inborn mitochondrial metabolism disorder is_a: MONDO:0037858 ! inherited fatty acid metabolism disorder is_a: MONDO:0045022 ! disorder of organic acid metabolism is_a: MONDO:0056803 ! sulfur metabolism disease property_value: exactMatch Orphanet:401854 [Term] id: MONDO:0018425 name: Huntington disease-like syndrome due to C9ORF72 expansions subset: ordo_disease {source="Orphanet:401901"} synonym: "C9ORF72-related Huntington disease phenocopy" EXACT [Orphanet:401901] synonym: "C9ORF72-related Huntington disease-like syndrome" EXACT [Orphanet:401901] synonym: "Huntington disease phenocopy due to C9ORF72 expansions" EXACT [Orphanet:401901] xref: Orphanet:401901 {source="MONDO:equivalentTo"} xref: UMLS:CN226138 {source="MONDO:equivalentTo"} is_a: EFO:0004280 ! movement disorder is_a: MONDO:0015548 {source="Orphanet:401901"} ! Huntington disease-like syndrome relationship: disease_has_major_feature MONDO:0001627 {source="Orphanet:401901"} ! dementia relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226138 property_value: exactMatch Orphanet:401901 [Term] id: MONDO:0018426 name: AXIN2-related attenuated familial adenomatous polyposis subset: ordo_clinical_subtype {source="Orphanet:401911"} synonym: "AXIN2-related AFAP" EXACT [Orphanet:401911] synonym: "AXIN2-related attenuated familial polyposis coli" EXACT [Orphanet:401911] synonym: "AXIN2-related attenuated FAP" EXACT [Orphanet:401911] xref: Orphanet:401911 {source="MONDO:equivalentTo"} xref: UMLS:CN226139 {source="MONDO:equivalentTo"} is_a: MONDO:0016362 {source="Orphanet:401911"} ! attenuated familial adenomatous polyposis property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226139 property_value: exactMatch Orphanet:401911 [Term] id: MONDO:0018428 name: 9q31.1q31.3 microdeletion syndrome subset: ordo_malformation_syndrome {source="Orphanet:401923"} synonym: "Del(9)(q31.1q31.3)" EXACT [Orphanet:401923] synonym: "monosomy 9q31.1q31.3" EXACT [Orphanet:401923] xref: Orphanet:401923 {source="MONDO:equivalentTo"} xref: UMLS:CN226140 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:401923"} ! syndromic intellectual disability is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:401923"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0016908 {source="Orphanet:401923"} ! partial monosomy of the long arm of chromosome 9 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226140 property_value: exactMatch Orphanet:401923 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0018429 name: 14q24.1q24.3 microdeletion syndrome subset: ordo_malformation_syndrome {source="Orphanet:401935"} synonym: "Del(14)(q24.1q24.3)" EXACT [Orphanet:401935] synonym: "monosomy 14q24.1q24.3" EXACT [Orphanet:401935] xref: Orphanet:401935 {source="MONDO:equivalentTo"} xref: UMLS:CN226142 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:401935"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0016912 {source="Orphanet:401935"} ! partial deletion of the long arm of chromosome 14 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226142 property_value: exactMatch Orphanet:401935 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:401935"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0018430 name: partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome def: "A rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts." [Orphanet:401959] subset: ordo_malformation_syndrome {source="Orphanet:401959"} xref: Orphanet:401959 {source="MONDO:equivalentTo"} xref: UMLS:CN226145 {source="MONDO:equivalentTo"} is_a: MONDO:0016054 {source="Orphanet:401959"} ! cerebral malformation relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226145 property_value: exactMatch Orphanet:401959 [Term] id: MONDO:0018431 name: cold-induced sweating syndrome - hyperthermia spectrum comment: Editor note: in ORDO this is classified as AR, but this leads to inconsistencies due to AD forms subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:401993"} subset: ordo_inheritance_inconsistent xref: Orphanet:401993 {source="MONDO:equivalentTo"} xref: UMLS:CN226150 {source="MONDO:equivalentTo"} is_a: MONDO:0015364 {source="MONDO:cjm", source="Orphanet:401993/inferred"} ! hereditary sensory and autonomic neuropathy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226150 property_value: exactMatch Orphanet:401993 property_value: excluded_subClassOf MONDO:0015366 {source="Orphanet:401993"} [Term] id: MONDO:0018438 name: eosinophilic gastrointestinal disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:402029"} synonym: "EGID" EXACT ABBREVIATION [Orphanet:402029] synonym: "primary eosinophilic gastrointestinal disease" EXACT [PMID:22792476] xref: Orphanet:402029 {source="MONDO:equivalentTo"} xref: UMLS:CN226154 {source="MONDO:equivalentTo"} is_a: EFO:0009431 ! intestinal disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0019997"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226154 property_value: exactMatch Orphanet:402029 [Term] id: MONDO:0018440 name: autosomal recessive distal renal tubular acidosis def: "Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed." [Orphanet:402041] subset: ordo_clinical_subtype {source="Orphanet:402041"} synonym: "AR dRTA" EXACT [Orphanet:402041] synonym: "autosomal recessive distal renal tubular acidosis (disease)" EXACT [] synonym: "autosomal recessive distal RTA" EXACT [Orphanet:402041] synonym: "distal renal tubular acidosis (disease), autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] xref: Orphanet:402041 {source="MONDO:equivalentTo"} xref: UMLS:C1864498 {source="MONDO:equivalentTo", source="Orphanet:402041"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0015827 {source="MONDO:Redundant", source="Orphanet:402041"} ! distal renal tubular acidosis property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864498 property_value: exactMatch Orphanet:402041 [Term] id: MONDO:0018443 name: FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome subset: ordo_malformation_syndrome {source="Orphanet:404451"} xref: Orphanet:404451 {source="MONDO:equivalentTo"} xref: UMLS:CN226185 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:404451"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226185 property_value: exactMatch Orphanet:404451 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:404451"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0018445 name: global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome subset: ordo_malformation_syndrome {source="Orphanet:404476"} synonym: "global developmental delay, lung cysts, overgrowth, and wilms tumor" EXACT [MONDO:0032647, OMIM:618272] synonym: "global developmental delay, lung cysts, overgrowth, and wilms tumour" EXACT OMO:0003005 [] synonym: "GLOW" EXACT ABBREVIATION [OMIM:618272] synonym: "glow syndrome" EXACT [OMIM:618272, Orphanet:404476] synonym: "GLOW syndrome, somatic mosaic" EXACT [OMIM:618272, OMIM:genemap2] xref: OMIM:618272 {source="MONDO:equivalentTo"} xref: Orphanet:404476 {source="MONDO:equivalentTo", source="OMIM:618272"} xref: UMLS:CN226190 {source="MONDO:equivalentTo"} is_a: MONDO:0017891 {source="Orphanet:404476"} ! inherited renal cancer-predisposing syndrome is_a: MONDO:0019716 {source="Orphanet:404476"} ! overgrowth syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226190 property_value: exactMatch https://omim.org/entry/618272 property_value: exactMatch Orphanet:404476 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4224 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0018446 name: autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:404481"} xref: Orphanet:404481 {source="MONDO:equivalentTo"} xref: UMLS:CN226191 {source="MONDO:equivalentTo"} is_a: MONDO:0015244 {source="Orphanet:404481"} ! autosomal recessive cerebellar ataxia is_a: MONDO:0015653 {source="Orphanet:404481"} ! monogenic epilepsy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226191 property_value: exactMatch Orphanet:404481 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:404481"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0018450 name: spinal muscular atrophy with respiratory distress type 2 def: "Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene." [Orphanet:404521] subset: ordo_disease {source="Orphanet:404521"} synonym: "diaphragmatic spinal muscular atrophy type 2" EXACT [Orphanet:404521] synonym: "severe infantile axonal neuropathy with respiratory failure type 2" EXACT [Orphanet:404521] synonym: "SMARD2" EXACT ABBREVIATION [Orphanet:404521] synonym: "X-linked spinal muscular atrophy with respiratory distress" EXACT [Orphanet:404521] xref: Orphanet:404521 {source="MONDO:equivalentTo"} xref: UMLS:CN226195 {source="MONDO:equivalentTo"} is_a: MONDO:0018451 {source="Orphanet:404521"} ! X-linked distal hereditary motor neuropathy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226195 property_value: exactMatch Orphanet:404521 [Term] id: MONDO:0018451 name: X-linked distal hereditary motor neuropathy def: "X-linked form of distal hereditary motor neuropathy." [MONDO:patterns/x_linked] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:404538"} synonym: "distal hereditary motor neuropathy, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "X-linked dHMN" EXACT [Orphanet:404538] synonym: "X-linked distal spinal muscular atrophy" EXACT [Orphanet:404538] xref: Orphanet:404538 {source="MONDO:equivalentTo"} is_a: MONDO:0000425 ! X-linked disease is_a: MONDO:0018894 {source="MONDO:Redundant", source="Orphanet:404538"} ! distal hereditary motor neuropathy property_value: exactMatch Orphanet:404538 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0018452 name: obsolete deficiency of the interleukin-36 receptor antagonist property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2829 xsd:anyURI is_obsolete: true replaced_by: MONDO:0013626 [Term] id: MONDO:0018453 name: familial atypical multiple mole melanoma syndrome subset: ordo_disease {source="Orphanet:404560"} synonym: "B-K mole syndrome" EXACT [Orphanet:404560] synonym: "familial atypical mole melanoma syndrome" EXACT [NCIT:C27264] synonym: "familial atypical mole syndrome" EXACT [Orphanet:404560] synonym: "familial atypical multiple mole melanoma-pancreatic carcinoma syndrome" EXACT [Orphanet:404560] synonym: "familial Clark nevus syndrome" EXACT [Orphanet:404560] synonym: "familial dysplastic nevus syndrome" EXACT [Orphanet:404560] synonym: "FAMM syndrome" EXACT [NCIT:C27264] synonym: "FAMM-PC syndrome" EXACT [Orphanet:404560] synonym: "FAMMM syndrome" EXACT [Orphanet:404560] synonym: "melanoma-pancreatic cancer syndrome" BROAD [Orphanet:404560] xref: NCIT:C27264 {source="MONDO:equivalentTo"} xref: Orphanet:404560 {source="MONDO:equivalentTo"} xref: UMLS:C2314896 {source="MONDO:relatedTo", source="Orphanet:404560"} is_a: MONDO:0015356 {source="NCIT:C27264", source="Orphanet:404560"} ! hereditary neoplastic syndrome is_a: MONDO:0015950 {source="Orphanet:404560"} ! inherited skin tumor property_value: exactMatch NCIT:C27264 property_value: exactMatch Orphanet:404560 property_value: excluded_subClassOf MONDO:0019300 {source="Orphanet:404560"} [Term] id: MONDO:0018454 name: dysostosis of genetic origin def: "An instance of dysostosis that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:404568"} synonym: "genetic dysostosis" EXACT [MONDO:patterns/genetic] xref: Orphanet:404568 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0018234 {source="MONDO:Redundant", source="MONDO:cjm"} ! dysostosis intersection_of: MONDO:0018234 ! dysostosis intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch Orphanet:404568 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0018455 name: obsolete dysostosis of genetic origin with limb anomaly as a major feature subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:404571"} xref: Orphanet:404571 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch Orphanet:404571 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI is_obsolete: true [Term] id: MONDO:0018457 name: obsolete rare genetic bone development disorder subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:404584"} synonym: "rare genetic skeletal development disorder" EXACT [Orphanet:404584] xref: Orphanet:404584 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227376 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227376 property_value: exactMatch Orphanet:404584 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true [Term] id: MONDO:0018458 name: familial hypocalciuric hypercalcemia def: "Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration." [Orphanet:405] subset: ordo_disease {source="Orphanet:405"} synonym: "familial benign hypercalcemia" EXACT [DOID:0060699, Orphanet:405] synonym: "familial benign hypocalciuric hypercalcemia" EXACT [DOID:0060699, Orphanet:405] synonym: "FBH" RELATED ABBREVIATION [DOID:0060699, Orphanet:405] synonym: "FBHH" RELATED ABBREVIATION [DOID:0060699, Orphanet:405] synonym: "FHH" RELATED ABBREVIATION [DOID:0060699, Orphanet:405] synonym: "hypocalciuric hypercalcemia" RELATED [OMIMPS:145980] xref: DOID:0060699 {source="MONDO:equivalentTo"} xref: NCIT:C123262 {source="MONDO:equivalentTo"} xref: OMIMPS:145980 {source="DOID:0060699", source="MONDO:equivalentTo"} xref: Orphanet:405 {source="DOID:0060699", source="MONDO:equivalentTo"} xref: SCTID:237885008 {source="MONDO:equivalentTo"} xref: UMLS:C0342637 {source="MONDO:equivalentTo"} xref: UMLS:C1809471 {source="Orphanet:405", source="NCIT:C123262", source="MONDO:equivalentTo"} is_a: EFO:0001379 {source="MONDO:0015970-obsoleted", source="MONDO:0019061-obsoleted"} ! endocrine system disease is_a: MONDO:0001566 {source="DOID:0060699"} ! hypercalcemia disease is_a: MONDO:0017014 ! interstitial lung disease specific to childhood is_a: MONDO:0019052 ! inborn errors of metabolism property_value: exactMatch DOID:0060699 property_value: exactMatch http://identifiers.org/snomedct/237885008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342637 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1809471 property_value: exactMatch https://omim.org/phenotypicSeries/PS145980 property_value: exactMatch NCIT:C123262 property_value: exactMatch Orphanet:405 property_value: excluded_subClassOf MONDO:0019705 {source="Orphanet:405"} [Term] id: MONDO:0018459 name: isolated glycerol kinase deficiency def: "Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD )." [Orphanet:408] subset: ordo_disease {source="Orphanet:408"} synonym: "hyperglycerolemia" EXACT [Orphanet:408] synonym: "isolated inborn glycerol kinase deficiency" EXACT [] synonym: "nonsyndromic glycerol kinase deficiency" EXACT [MONDO:patterns/isolated] synonym: "nonsyndromic inborn glycerol kinase deficiency" EXACT [MONDO:patterns/isolated] xref: Orphanet:408 {source="MONDO:equivalentTo"} is_a: MONDO:0010613 {source="MONDO:Redundant", source="Orphanet:408"} ! inborn glycerol kinase deficiency intersection_of: MONDO:0010613 ! inborn glycerol kinase deficiency intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation relationship: has_characteristic MONDO:0021128 ! has an isolated presentation property_value: exactMatch Orphanet:408 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo-build/issues/49 xsd:anyURI [Term] id: MONDO:0018469 name: pulmonary non-tuberculous mycobacterial infection subset: ordo_disease {source="Orphanet:411703"} synonym: "non-tuberculous mycobacterial lung disease" EXACT [Orphanet:411703] synonym: "nontuberculous mycobacterial lung disease" RELATED [GARD:0012829] xref: Orphanet:411703 {source="MONDO:equivalentTo"} xref: UMLS:CN237452 {source="MONDO:equivalentTo"} is_a: EFO:0003818 ! lung disease is_a: MONDO:0020590 ! mycobacterial infectious disease is_a: MONDO:0024355 ! respiratory tract infectious disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237452 property_value: exactMatch Orphanet:411703 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0018470 name: renal agenesis def: "Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively), accompanied by absent ureter(s)." [Orphanet:411709] subset: ordo_morphological_anomaly {source="Orphanet:411709"} synonym: "absent/small kidney" EXACT [HP:0008678] synonym: "absent/underdeveloped kidney" EXACT [HP:0008678] synonym: "hereditary renal aplasia" EXACT [DOID:14766] synonym: "hereditary urogenital adysplasia" EXACT [DOID:14766] synonym: "renal adysplasia" EXACT [DOID:14766] synonym: "renal agenesis" EXACT [MONDO:ambiguous] synonym: "renal agenesis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "renal agenesis/hypoplasia" EXACT [HP:0008678] synonym: "renal aplasia" EXACT [DOID:14766] synonym: "renal hypodysplasia/aplasia" RELATED [OMIMPS:191830] xref: DOID:14766 {source="MONDO:equivalentTo"} xref: HP:0000104 {source="MONDO:otherHierarchy"} xref: HP:0008678 {source="MONDO:otherHierarchy"} xref: NCIT:C99041 {source="MONDO:equivalentTo"} xref: OMIMPS:191830 {source="MONDO:equivalentTo"} xref: Orphanet:411709 {source="OMIM:191830", source="MONDO:equivalentTo"} xref: SCTID:204942005 {source="MONDO:equivalentTo"} is_a: MONDO:0019720 {source="Orphanet:411709"} ! non-syndromic renal or urinary tract malformation is_a: MONDO:0100191 ! inherited kidney disorder relationship: disease_causes_feature MONDO:0001558 {source="GARD:0004462", source="Wikipedia:Potter_sequence"} ! Potter sequence property_value: exactMatch DOID:14766 property_value: exactMatch http://identifiers.org/snomedct/204942005 property_value: exactMatch https://omim.org/phenotypicSeries/PS191830 property_value: exactMatch NCIT:C99041 property_value: exactMatch Orphanet:411709 property_value: IAO:0000589 "renal agenesis (disease)" xsd:string [Term] id: MONDO:0018473 name: hyperlipoproteinemia type 3 def: "Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease." [Orphanet:412] subset: ordo_disease {source="Orphanet:412"} synonym: "apolipoprotein E, deficiency or defect of" RELATED [OMIM:617347] synonym: "Broad beta disease" RELATED [GARD:0006703] synonym: "Broad-betalipoproteinemia" EXACT [Orphanet:412] synonym: "carbohydrate induced hyperlipemia" EXACT [DOID:3145] synonym: "coronary artery disease, Severe, Susceptibility to" RELATED [OMIM:617347] synonym: "dysbetalipoproteinemia" RELATED [GARD:0006703] synonym: "dysbetalipoproteinemia due to defect in apolipoprotein E-D" RELATED [OMIM:617347] synonym: "dyslipidaemia type 3" EXACT OMO:0003005 [] synonym: "dyslipidemia type 3" EXACT [Orphanet:412] synonym: "familial dysbetalipoproteinemia" EXACT [Orphanet:412] synonym: "familial Hyperbeta- and Prebetalipoproteinemia" RELATED [OMIM:617347] synonym: "familial hypercholesterolaemia with hyperlipaemia" RELATED [DOID:3145] synonym: "familial hypercholesterolemia with hyperlipemia" RELATED [OMIM:617347] synonym: "familial hyperlipoproteinemia type 3" EXACT [Orphanet:412] synonym: "familial type 3 hyperlipoproteinemia" EXACT [DOID:3145] synonym: "floating-betalipoproteinemia" RELATED [OMIM:617347] synonym: "HLP type 3" EXACT [Orphanet:412] synonym: "hyperlipemia with Familial Hypercholesterolemic xanthomatosis" RELATED [OMIM:617347] synonym: "hyperlipidemia type 3" EXACT [Orphanet:412] synonym: "hyperlipoproteinemia type III" EXACT [MONDO:0002524] synonym: "hyperlipoproteinemia, type III" RELATED [OMIM:617347] synonym: "low density lipoprotein cholesterol level quantitative trait locus 5" RELATED [OMIM:617347] synonym: "remnant disease" EXACT [Orphanet:412] synonym: "remnant hyperlipidemia" EXACT [DOID:3145, NCIT:C34710] synonym: "remnant removal disease" RELATED [GARD:0006703] xref: DOID:3145 {source="MONDO:equivalentTo"} xref: MedDRA:10060751 {source="Orphanet:412", source="Orphanet:412/e"} xref: OMIM:617347 {source="Orphanet:412", source="MONDO:equivalentTo"} xref: Orphanet:412 {source="OMIM:617347", source="MONDO:equivalentTo"} xref: SCTID:398796005 {source="DOID:3145", source="MONDO:equivalentTo"} xref: UMLS:C0020479 {source="OMIM:617347", source="Orphanet:412", source="DOID:3145", source="MONDO:equivalentTo", source="Orphanet:412/e"} xref: UMLS:C1862561 {source="MONDO:equivalentTo"} is_a: MONDO:0001336 {source="DOID:3145", source="MONDO:Redundant", source="Orphanet:412"} ! familial hyperlipidemia property_value: closeMatch http://identifiers.org/meddra/10060751 property_value: exactMatch DOID:3145 property_value: exactMatch http://identifiers.org/snomedct/398796005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020479 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862561 property_value: exactMatch https://omim.org/entry/617347 property_value: exactMatch Orphanet:412 [Term] id: MONDO:0018477 name: bilirubin encephalopathy subset: ordo_clinical_syndrome {source="Orphanet:415286"} synonym: "bilirubin encephalopathy" EXACT [DOID:2382] synonym: "hyperbilirubinemic encephalopathy" RELATED [GARD:0006830] synonym: "kernicterus" EXACT [Orphanet:415286] synonym: "kernicterus spectrum disorder" RELATED [Orphanet:415286] xref: DOID:2382 {source="EFO:1001002", source="MONDO:equivalentTo"} xref: EFO:1001002 {source="MONDO:equivalentTo"} xref: MedDRA:10023376 {source="EFO:1001002"} xref: MESH:D007647 {source="EFO:1001002", source="MONDO:equivalentTo", source="DOID:2382"} xref: NCIT:C84799 {source="EFO:1001002", source="MONDO:equivalentTo", source="DOID:2382"} xref: Orphanet:415286 {source="MONDO:equivalentTo"} xref: SCTID:50143004 {source="MONDO:equivalentTo", source="DOID:2382"} is_a: EFO:0005774 {source="DOID:2382", source="EFO:1001002", source="MESH:D007647/inferred"} ! brain disease is_a: MONDO:0017755 {source="Orphanet:415286"} ! inborn disorder of bilirubin metabolism property_value: closeMatch http://identifiers.org/meddra/10023376 property_value: exactMatch DOID:2382 property_value: exactMatch http://identifiers.org/mesh/D007647 property_value: exactMatch http://identifiers.org/snomedct/50143004 property_value: exactMatch NCIT:C84799 property_value: exactMatch Orphanet:415286 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3604 xsd:anyURI [Term] id: MONDO:0018479 name: congenital adrenal hyperplasia def: "Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease." [Orphanet:418] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:418"} synonym: "adrenal hyperplasia" BROAD [NCIT:C34360] synonym: "adrenal hyperplasia, congenital" EXACT [NCIT:C34360] synonym: "adrenogenital disorder" BROAD [NCIT:C34360] synonym: "adrenogenital syndrome" BROAD [NCIT:C34360] synonym: "CAH" EXACT ABBREVIATION [Orphanet:418] synonym: "congenital adrenal gland hyperplasia" EXACT [NCIT:C34360] synonym: "congenital lipoid adrenal hyperplasia" RELATED [DOID:0050811] synonym: "lipoid CAH" RELATED [DOID:0050811] xref: DOID:0050811 {source="MONDO:equivalentTo"} xref: ICD9:255.2 {source="DOID:0050811"} xref: MedDRA:10010323 {source="Orphanet:418", source="Orphanet:418/e"} xref: MESH:D000312 {source="MONDO:equivalentTo", source="Orphanet:418", source="Orphanet:418/e"} xref: NCIT:C34360 {source="MONDO:equivalentTo"} xref: Orphanet:418 {source="MONDO:equivalentTo", source="DOID:0050811"} xref: SCTID:237751000 {source="MONDO:equivalentTo"} xref: UMLS:C0001627 {source="NCIT:C34360", source="MONDO:equivalentTo", source="Orphanet:418", source="Orphanet:418/e"} xref: UMLS:C0701163 {source="MONDO:equivalentTo", source="DOID:0050811"} is_a: EFO:0005590 {source="DOID:0050811", source="MESH:D000312"} ! steroid inherited metabolic disorder is_a: MONDO:0015129 {source="Orphanet:418", source="Orphanet:418/inferred"} ! chronic primary adrenal insufficiency is_a: MONDO:0015514 {source="Orphanet:418"} ! hereditary endocrine growth disease is_a: MONDO:0015898 {source="MESH:D000312", source="Orphanet:418"} ! adrenogenital syndrome property_value: closeMatch http://identifiers.org/meddra/10010323 property_value: exactMatch DOID:0050811 property_value: exactMatch http://identifiers.org/mesh/D000312 property_value: exactMatch http://identifiers.org/snomedct/237751000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001627 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0701163 property_value: exactMatch NCIT:C34360 property_value: exactMatch Orphanet:418 [Term] id: MONDO:0018485 name: glycogen storage disease due to acid maltase deficiency, late-onset def: "Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." [Orphanet:420429] subset: ordo_clinical_subtype {source="Orphanet:420429"} synonym: "Alpha-1,4-glucosidase acid deficiency, late onset" EXACT [Orphanet:420429] synonym: "Alpha-1,4-glucosidase acid deficiency, late-onset" EXACT [Orphanet:420429] synonym: "glycogen storage disease type 2, late onset" EXACT [Orphanet:420429] synonym: "glycogen storage disease type 2, late-onset" EXACT [Orphanet:420429] synonym: "glycogen storage disease type II, late onset" EXACT [Orphanet:420429] synonym: "glycogen storage disease type II, late-onset" EXACT [Orphanet:420429] synonym: "glycogenosis type 2, late onset" EXACT [Orphanet:420429] synonym: "glycogenosis type 2, late-onset" EXACT [Orphanet:420429] synonym: "glycogenosis type II, late onset" EXACT [Orphanet:420429] synonym: "glycogenosis type II, late-onset" EXACT [Orphanet:420429] synonym: "GSD due to acid maltase deficiency, late onset" EXACT [Orphanet:420429] synonym: "GSD due to acid maltase deficiency, late-onset" EXACT [Orphanet:420429] synonym: "GSD type 2, late onset" EXACT [Orphanet:420429] synonym: "GSD type 2, late-onset" EXACT [Orphanet:420429] synonym: "GSD type II, late onset" EXACT [Orphanet:420429] synonym: "GSD type II, late-onset" EXACT [Orphanet:420429] synonym: "Pompe disease, late onset" EXACT [Orphanet:420429] synonym: "Pompe disease, late-onset" EXACT [Orphanet:420429] xref: Orphanet:420429 {source="MONDO:equivalentTo"} xref: SCTID:722343009 {source="MONDO:equivalentTo"} xref: UMLS:C0342753 {source="MONDO:equivalentTo"} xref: UMLS:C3888925 {source="MONDO:equivalentTo", source="Orphanet:420429"} is_a: MONDO:0009290 {source="Orphanet:420429"} ! glycogen storage disease II property_value: exactMatch http://identifiers.org/snomedct/722343009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342753 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888925 property_value: exactMatch Orphanet:420429 [Term] id: MONDO:0018491 name: 3-phosphoglycerate dehydrogenase deficiency subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:422519"} xref: ICD9:270.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:422519 {source="MONDO:equivalentObsolete"} xref: SCTID:303098002 {source="MONDO:equivalentTo"} xref: UMLS:C0580190 {source="MONDO:equivalentTo"} is_a: MONDO:0018162 {source="Orphanet:422519"} ! neurometabolic disorder due to serine deficiency property_value: exactMatch http://identifiers.org/snomedct/303098002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0580190 [Term] id: MONDO:0018492 name: hereditary clear cell renal cell carcinoma def: "A manifestation of von Hippel-Lindau disease or other familial renal cell cancer syndromes that present as a malignant epithelial neoplasm of the kidney. It is characterized by the presence of lipid-containing clear cells within a vascular network. The tumor usually is bilateral and polycentric, and metastasizes to unusual sites. Late metastasis is common." [NCIT:P378] subset: ordo_disease {source="Orphanet:422526"} synonym: "hereditary clear cell renal carcinoma" EXACT [MONDO:patterns/hereditary] synonym: "hereditary clear cell renal cell adenocarcinoma" EXACT [Orphanet:422526] synonym: "Hereditary clear cell renal cell cancer" EXACT [NCIT:C36260] synonym: "hereditary clear cell renal cell carcinoma" EXACT [NCIT:C36260] synonym: "hereditary conventional (clear cell) renal cell carcinoma" EXACT [NCIT:C36260] synonym: "hereditary conventional renal cell carcinoma" RELATED [DOID:7192] xref: DOID:7192 {source="MONDO:equivalentTo"} xref: NCIT:C36260 {source="MONDO:equivalentTo", source="DOID:7192", source="MONDO:exact-label-match"} xref: Orphanet:422526 {source="MONDO:equivalentTo"} xref: SCTID:764961009 {source="MONDO:equivalentTo"} xref: UMLS:CN237493 {source="MONDO:equivalentTo"} is_a: EFO:0000349 {source="MONDO:Redundant", source="NCIT:C36260"} ! clear cell renal carcinoma is_a: MONDO:0003008 {source="DOID:7192", source="MONDO:Redundant", source="NCIT:C36260"} ! hereditary renal cell carcinoma is_a: MONDO:0017891 {source="Orphanet:422526"} ! inherited renal cancer-predisposing syndrome intersection_of: EFO:0000349 ! clear cell renal carcinoma intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch DOID:7192 property_value: exactMatch http://identifiers.org/snomedct/764961009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237493 property_value: exactMatch NCIT:C36260 property_value: exactMatch Orphanet:422526 [Term] id: MONDO:0018493 name: malignant hyperthermia of anesthesia def: "A pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gasses such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat." [https://orcid.org/0000-0001-5208-3432, Orphanet:423] subset: clingen subset: ordo_disease {source="Orphanet:423"} synonym: "anaesthesia related hyperthermia" EXACT OMO:0003005 [] synonym: "anesthesia related hyperthermia" EXACT [DOID:8545] synonym: "hyperthermia of anaesthesia" EXACT OMO:0003005 [] synonym: "hyperthermia of anesthesia" EXACT [Orphanet:423] synonym: "malignant hyperpyrexia" EXACT [NCIT:C84869] synonym: "malignant hyperpyrexia due to anaesthesia" EXACT OMO:0003005 [] synonym: "malignant hyperpyrexia due to anesthesia" EXACT [DOID:8545] synonym: "malignant hyperthermia" EXACT [MONDO:ambiguous] synonym: "malignant hyperthermia of anesthesia" EXACT [] synonym: "malignant hyperthermia syndrome" EXACT [NCIT:C84869] xref: DOID:8545 {source="MONDO:equivalentTo"} xref: HP:0002047 {source="MONDO:otherHierarchy"} xref: ICD9:995.86 {source="DOID:8545"} xref: MedDRA:10020844 {source="Orphanet:423", source="Orphanet:423/e"} xref: MESH:D008305 {source="DOID:8545", source="Orphanet:423", source="MONDO:equivalentTo", source="Orphanet:423/e"} xref: NCIT:C84869 {source="DOID:8545", source="MONDO:equivalentTo"} xref: OMIMPS:145600 {source="MONDO:cjm", source="MONDO:relatedTo"} xref: Orphanet:423 {source="DOID:8545", source="MONDO:equivalentTo"} xref: SCTID:405501007 {source="DOID:8545", source="MONDO:equivalentTo"} xref: UMLS:C0024591 {source="DOID:8545", source="Orphanet:423", source="NCIT:C84869", source="MONDO:equivalentTo", source="Orphanet:423/e"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:1001899 {source="Orphanet:423"} ! muscular channelopathy property_value: closeMatch http://identifiers.org/meddra/10020844 property_value: exactMatch DOID:8545 property_value: exactMatch http://identifiers.org/mesh/D008305 property_value: exactMatch http://identifiers.org/snomedct/405501007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024591 property_value: exactMatch NCIT:C84869 property_value: exactMatch Orphanet:423 property_value: excluded_subClassOf MONDO:0002254 {source="NCIT:C84869"} [Term] id: MONDO:0018496 name: ARX-related encephalopathy-brain malformation spectrum comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:423655"} xref: Orphanet:423655 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: exactMatch Orphanet:423655 property_value: excluded_subClassOf MONDO:0015620 {source="Orphanet:423655"} property_value: excluded_subClassOf MONDO:0015921 {source="Orphanet:423655"} property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:423655"} property_value: excluded_subClassOf MONDO:0021147 {source="MONDO:0017122-obsoleted"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0018502 name: hereditary gastric cancer def: "Hereditary gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer, and includes hereditary diffuse gastric cancer (early onset diffuse-type gastric cancer), gastric adenocarcinoma and proximal polyposis of the stomach and familial intestinal gastric cancer (familial clustering of intestinal type gastric adenocarcinoma). Hereditary gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and juvenile polyposis syndrome." [Orphanet:423776] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:423776"} synonym: "hereditary cancer of stomach" EXACT [Orphanet:423776] synonym: "hereditary gastric cancer" EXACT [MONDO:patterns/hereditary] xref: Orphanet:423776 {source="MONDO:equivalentTo"} is_a: EFO:0000178 {source="Orphanet:423776"} ! gastric carcinoma is_a: MONDO:0017128 ! inherited digestive tract tumor intersection_of: MONDO:0001056 ! gastric cancer intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch Orphanet:423776 [Term] id: MONDO:0018506 name: mesenchymal tumor of small intestine subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:423798"} synonym: "mesenchymal tumor of small bowel" EXACT [Orphanet:423798] synonym: "mesenchymal tumour of small bowel" EXACT OMO:0003005 [] xref: Orphanet:423798 {source="MONDO:equivalentTo"} xref: UMLS:CN237511 {source="MONDO:equivalentTo"} is_a: MONDO:0004251 {source="Orphanet:423798"} ! small intestine neoplasm relationship: has_characteristic MONDO:0021136 {source="MONDO:0018505"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237511 property_value: exactMatch Orphanet:423798 [Term] id: MONDO:0018511 name: epithelial tumor of the appendix def: "A epithelial neoplasm that involves the vermiform appendix." [MONDO:patterns/location] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:423982"} synonym: "appendiceal epithelial tumor" EXACT [Orphanet:423982] synonym: "appendiceal epithelial tumour" EXACT OMO:0003005 [] synonym: "vermiform appendix epithelial neoplasm" EXACT [MONDO:patterns/location] xref: Orphanet:423982 {source="MONDO:equivalentTo"} xref: UMLS:CN237516 {source="MONDO:equivalentTo"} is_a: EFO:0003880 ! appendiceal neoplasm is_a: MONDO:0024479 ! epithelial tumor of colon relationship: has_characteristic MONDO:0021136 {source="MONDO:0015186"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237516 property_value: exactMatch Orphanet:423982 [Term] id: MONDO:0018513 name: squamous cell carcinoma of colon def: "A squamous cell carcinoma that involves the colon." [MONDO:patterns/location] subset: ordo_disease {source="Orphanet:423994"} synonym: "colon epidermoid carcinoma" EXACT [NCIT:C5490] synonym: "colon squamous cell cancer" EXACT [NCIT:C5490] synonym: "colon squamous cell carcinoma" EXACT [MONDO:0003485, MONDO:patterns/location, NCIT:C5490] synonym: "colonic epidermoid carcinoma" EXACT [DOID:5519, NCIT:C5490] synonym: "colonic squamous cell carcinoma" EXACT [NCIT:C5490] synonym: "epidermoid carcinoma of colon" EXACT [NCIT:C5490] synonym: "epidermoid carcinoma of the colon" EXACT [NCIT:C5490] synonym: "squamous cell carcinoma of colon" EXACT [DOID:5519, NCIT:C5490] synonym: "squamous cell carcinoma of the colon" EXACT [NCIT:C5490] synonym: "squamous cell colon carcinoma" EXACT [NCIT:C5490] xref: DOID:5519 {source="MONDO:equivalentTo"} xref: NCIT:C5490 {source="MONDO:equivalentTo", source="DOID:5519"} xref: Orphanet:423994 {source="MONDO:equivalentTo"} xref: SCTID:766981007 {source="MONDO:equivalentTo"} xref: UMLS:C1333100 {source="MONDO:equivalentTo", source="DOID:5519", source="NCIT:C5490"} xref: UMLS:CN237518 {source="MONDO:equivalentTo"} is_a: EFO:1000198 {source="MONDO:Redundant", source="NCIT:C5490"} ! Colorectal Squamous Cell Carcinoma is_a: EFO:1001950 {source="DOID:5519", source="MONDO:Redundant", source="NCIT:C5490"} ! colon carcinoma relationship: has_characteristic MONDO:0021136 {source="MONDO:0018512"} ! rare property_value: exactMatch DOID:5519 property_value: exactMatch http://identifiers.org/snomedct/766981007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333100 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237518 property_value: exactMatch NCIT:C5490 property_value: exactMatch Orphanet:423994 [Term] id: MONDO:0018515 name: squamous cell carcinoma of rectum def: "A very rare rectal carcinoma characterized by the presence of a malignant squamous cell infiltrate." [NCIT:C5554] subset: ordo_disease {source="Orphanet:424002"} synonym: "rectal squamous carcinoma" EXACT [NCIT:C5554] synonym: "rectal squamous cell cancer" EXACT [NCIT:C5554] synonym: "rectal squamous cell carcinoma" EXACT [NCIT:C5554, Orphanet:424002] synonym: "rectum squamous cell carcinoma" EXACT [MONDO:0003491, MONDO:patterns/location] synonym: "squamous carcinoma of rectum" EXACT [DOID:5528, NCIT:C5554] synonym: "squamous carcinoma of the rectum" EXACT [NCIT:C5554] synonym: "squamous cell carcinoma of rectum" EXACT [NCIT:C5554] synonym: "squamous cell carcinoma of the rectum" EXACT [DOID:5528, NCIT:C5554] xref: DOID:5528 {source="MONDO:equivalentTo"} xref: NCIT:C5554 {source="MONDO:equivalentTo", source="DOID:5528"} xref: Orphanet:424002 {source="MONDO:equivalentTo"} xref: SCTID:766979005 {source="MONDO:equivalentTo"} xref: UMLS:C1335690 {source="MONDO:equivalentTo", source="NCIT:C5554", source="DOID:5528", source="Orphanet:424002"} is_a: EFO:1000198 {source="MONDO:Redundant", source="NCIT:C5554"} ! Colorectal Squamous Cell Carcinoma is_a: MONDO:0044937 ! rectal carcinoma relationship: has_characteristic MONDO:0021136 {source="MONDO:0018514"} ! rare property_value: exactMatch DOID:5528 property_value: exactMatch http://identifiers.org/snomedct/766979005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335690 property_value: exactMatch NCIT:C5554 property_value: exactMatch Orphanet:424002 [Term] id: MONDO:0018521 name: squamous cell carcinoma of pancreas def: "A squamous cell carcinoma that involves the pancreas." [MONDO:patterns/location] subset: ordo_disease {source="Orphanet:424039"} synonym: "pancreas squamous cell carcinoma" EXACT [MONDO:patterns/location] synonym: "pancreatic squamous cell carcinoma" EXACT [Orphanet:424039] synonym: "squamous cell carcinoma of the pancreas" RELATED [Orphanet:424039] xref: DOID:0080323 {source="MONDO:equivalentTo"} xref: Orphanet:424039 {source="MONDO:equivalentTo"} xref: UMLS:C2675993 {source="MONDO:equivalentTo"} xref: UMLS:CN237524 {source="MONDO:equivalentTo"} is_a: EFO:0000707 ! squamous cell carcinoma is_a: EFO:0002618 {source="Orphanet:424039"} ! pancreatic carcinoma relationship: has_characteristic MONDO:0021136 {source="MONDO:0016314"} ! rare property_value: exactMatch DOID:0080323 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675993 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237524 property_value: exactMatch Orphanet:424039 [Term] id: MONDO:0018528 name: congenital myopathy with myasthenic-like onset def: "Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features." [Orphanet:424107] subset: ordo_disease {source="Orphanet:424107"} synonym: "congenital myopathy with myasthenic-like onset" EXACT [] xref: Orphanet:424107 {source="MONDO:equivalentTo"} xref: SCTID:763315005 {source="MONDO:equivalentTo"} is_a: MONDO:0100150 {source="https://clinicalgenome.org/affiliation/40031/"} ! RYR1-related myopathy property_value: exactMatch http://identifiers.org/snomedct/763315005 property_value: exactMatch Orphanet:424107 [Term] id: MONDO:0018529 name: qualitative or quantitative defects of Torsin-1A-interacting protein 1 comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:424925"} synonym: "qualitative or quantitative defects of Torsin-1A-interacting protein type 1" EXACT [MONDORULE:1, Orphanet:424925] xref: Orphanet:424925 {source="MONDO:equivalentTo"} is_a: MONDO:0016139 {source="Orphanet:424925"} ! qualitative or quantitative protein defects in neuromuscular diseases property_value: exactMatch Orphanet:424925 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0018531 name: carcinoma of liver and intrahepatic biliary tract def: "A carcinoma that arises from the hepatocytes or intrahepatic bile ducts. The main subtypes are hepatocellular carcinoma (hepatoma) and cholangiocarcinoma." [NCIT:C7927] comment: Editor note: In uberon intrahepatic bile ducts are part of the liver, so we equate this with carcinoma of liver; we use hepatocellular for the liver proper subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:424936"} synonym: "cancer of liver" BROAD [NCIT:C7927] synonym: "cancer of liver and intrahepatic biliary tract" BROAD [NCIT:C7927] synonym: "cancer of the liver" BROAD [NCIT:C7927] synonym: "cancer of the liver and intrahepatic biliary tract" BROAD [NCIT:C7927] synonym: "carcinoma of liver" BROAD [MONDO:patterns/carcinoma] synonym: "carcinoma of liver and IBT" EXACT [Orphanet:424936] synonym: "hepatic cancer" BROAD [NCIT:C7927] synonym: "hepatocellular carcinoma plus intrahepatic cholangiocarcinoma" RELATED [ONCOTREE:HCCIHCH] synonym: "liver and intrahepatic bile duct cancer" BROAD [NCIT:C7927] synonym: "liver and intrahepatic bile duct carcinoma" EXACT [NCIT:C7927] synonym: "liver and intrahepatic biliary tract cancer" EXACT [NCIT:C7927] synonym: "liver and intrahepatic biliary tract carcinoma" EXACT [NCIT:C7927] synonym: "liver cancer" BROAD [NCIT:C7927] synonym: "liver carcinoma" BROAD [MONDO:cjm] synonym: "liver/hepatobiliary cancer" BROAD [NCIT:C7927] synonym: "primary liver carcinoma" EXACT [NCIT:C7927] xref: ICD10CM:C22.1 {source="MONDO:equivalentTo"} xref: NCIT:C7927 {source="MONDO:equivalentTo"} xref: ONCOTREE:HCCIHCH {source="MONDO:equivalentTo"} xref: Orphanet:424936 {source="MONDO:equivalentTo"} xref: UMLS:C0279000 {source="MONDO:equivalentTo", source="NCIT:C7927"} is_a: EFO:1000218 {source="MONDO:Redundant", source="NCIT:C7927"} ! Digestive System Carcinoma is_a: MONDO:0002691 ! liver cancer property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279000 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/C22.1 property_value: exactMatch NCIT:C7927 property_value: exactMatch Orphanet:424936 [Term] id: MONDO:0018532 name: adenocarcinoma of liver and intrahepatic biliary tract comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: obsoletion_candidate subset: ordo_disease {source="Orphanet:424943"} synonym: "adenocarcinoma of liver and IBT" EXACT [Orphanet:424943] synonym: "adenocarcinoma of the liver and IBT" EXACT [Orphanet:424943] synonym: "adenocarcinoma of the liver and intrahepatic biliary tract" EXACT [Orphanet:424943] xref: Orphanet:424943 {source="MONDO:equivalentTo"} xref: UMLS:CN242181 {source="MONDO:equivalentTo"} is_a: EFO:0000228 ! adenocarcinoma is_a: MONDO:0018531 {source="MONDO:Entailed", source="Orphanet:424943"} ! carcinoma of liver and intrahepatic biliary tract intersection_of: EFO:0000228 ! adenocarcinoma intersection_of: MONDO:0024477 ! liver and intrahepatic bile duct neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242181 property_value: exactMatch Orphanet:424943 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0018533 name: undifferentiated carcinoma of liver and intrahepatic biliary tract def: "Undifferentiated carcinoma of liver and intrahepatic biliary tract is an extremely rare epithelial tumor of the liver and biliary tract which presents heterogenous histological findings and not yet fully defined clinicopathological characterisitcs. Patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice. Invasive growth, hight metastatic potential and a rapid clinical course are typically associated." [Orphanet:424970] subset: ordo_disease {source="Orphanet:424970"} synonym: "undifferentiated carcinoma of liver and IBT" EXACT [Orphanet:424970] xref: Orphanet:424970 {source="MONDO:equivalentTo"} xref: UMLS:CN242153 {source="MONDO:equivalentTo"} is_a: EFO:0006772 ! undifferentiated carcinoma is_a: MONDO:0018531 {source="MONDO:Entailed", source="Orphanet:424970"} ! carcinoma of liver and intrahepatic biliary tract intersection_of: EFO:0006772 ! undifferentiated carcinoma intersection_of: MONDO:0024477 ! liver and intrahepatic bile duct neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242153 property_value: exactMatch Orphanet:424970 [Term] id: MONDO:0018534 name: squamous cell carcinoma of liver and intrahepatic biliary tract def: "Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare, primary, malignant liver and biliray tract epithelial tumor originating in the intrahepatic bile duct epithelium histologically characterized by the presence of keratinization and/or intracellular bridges. Patients typically present abdominal pain in the right upper quadrant, jaundice, nausea, vomiting, anorexia, weight loss, fever and/or dyspepsia." [Orphanet:424975] subset: ordo_disease {source="Orphanet:424975"} synonym: "squamous cell carcinoma of liver and IBT" EXACT [Orphanet:424975] xref: Orphanet:424975 {source="MONDO:equivalentTo"} xref: UMLS:CN242131 {source="MONDO:equivalentTo"} is_a: EFO:0000707 ! squamous cell carcinoma is_a: MONDO:0018531 {source="MONDO:Entailed", source="Orphanet:424975"} ! carcinoma of liver and intrahepatic biliary tract intersection_of: EFO:0000707 ! squamous cell carcinoma intersection_of: MONDO:0024477 ! liver and intrahepatic bile duct neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242131 property_value: exactMatch Orphanet:424975 [Term] id: MONDO:0018536 name: adenocarcinoma of gallbladder and extrahepatic biliary tract def: "Adenocarcinoma of the gallbladder and extrahepatic biliary tract is a rare epithelial carcinoma, arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland, characterized by nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (e.g. primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor." [Orphanet:424991] subset: ordo_disease {source="Orphanet:424991"} synonym: "adenocarcinoma of gallbladder and EBT" EXACT [Orphanet:424991] synonym: "adenocarcinoma of the gallbladder and EBT" EXACT [Orphanet:424991] synonym: "adenocarcinoma of the gallbladder and extrahepatic biliary tract" EXACT [Orphanet:424991] xref: Orphanet:424991 {source="MONDO:equivalentTo"} xref: SCTID:765741003 {source="MONDO:equivalentTo"} xref: UMLS:CN237537 {source="MONDO:equivalentTo"} is_a: MONDO:0002665 ! extrahepatic bile duct adenocarcinoma is_a: MONDO:0018918 {source="MONDO:Redundant", source="Orphanet:424991"} ! carcinoma of gallbladder and extrahepatic biliary tract intersection_of: EFO:0000228 ! adenocarcinoma intersection_of: MONDO:0018918 ! carcinoma of gallbladder and extrahepatic biliary tract property_value: exactMatch http://identifiers.org/snomedct/765741003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237537 property_value: exactMatch Orphanet:424991 [Term] id: MONDO:0018537 name: squamous cell carcinoma of gallbladder and extrahepatic biliary tract def: "Squamous cell carcinoma of the gallbladder and extrahepatic biliary tract is a rare hepatic and biliary tract tumor, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterized by a substantial keratinization with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumor and symptoms of adjacent organ involvement." [Orphanet:424996] subset: ordo_disease {source="Orphanet:424996"} synonym: "squamous cell carcinoma of gallblader and EBT" EXACT [Orphanet:424996] xref: Orphanet:424996 {source="MONDO:equivalentTo"} xref: SCTID:766978002 {source="MONDO:equivalentTo"} xref: UMLS:CN237538 {source="MONDO:equivalentTo"} is_a: EFO:1000248 ! Extrahepatic Bile Duct Squamous Cell Carcinoma is_a: MONDO:0018918 {source="MONDO:Redundant", source="Orphanet:424996"} ! carcinoma of gallbladder and extrahepatic biliary tract intersection_of: EFO:0000707 ! squamous cell carcinoma intersection_of: MONDO:0018918 ! carcinoma of gallbladder and extrahepatic biliary tract property_value: exactMatch http://identifiers.org/snomedct/766978002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237538 property_value: exactMatch Orphanet:424996 [Term] id: MONDO:0018538 name: inherited digestive cancer-predisposing syndrome comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:425003"} xref: Orphanet:425003 {source="MONDO:equivalentTo"} xref: UMLS:CN237539 {source="MONDO:equivalentTo"} is_a: MONDO:0015356 {source="MONDO:Redundant", source="Orphanet:425003"} ! hereditary neoplastic syndrome intersection_of: MONDO:0015356 ! hereditary neoplastic syndrome intersection_of: disease_has_feature MONDO:0002516 ! digestive system cancer relationship: disease_has_feature MONDO:0002516 ! digestive system cancer property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237539 property_value: exactMatch Orphanet:425003 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0018540 name: PFAPA syndrome def: "An auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis." [Orphanet:42642] subset: ordo_disease {source="Orphanet:42642"} synonym: "Marshall syndrome" RELATED [NCIT:C116917] synonym: "Marshall syndrome with periodic fever" EXACT [Orphanet:42642] synonym: "periodic fever, aphthous stomatitis, pharyngitis and adenitis" EXACT [GARD:0005657] synonym: "periodic fever, aphthous stomatitis, pharyngitis, adenitis syndrome" EXACT [NCIT:C116917] synonym: "periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome" EXACT [Orphanet:42642] synonym: "PFAPA" EXACT ABBREVIATION [GARD:0005657] xref: NCIT:C116917 {source="MONDO:equivalentTo"} xref: Orphanet:42642 {source="MONDO:equivalentTo"} xref: SCTID:717231003 {source="MONDO:equivalentTo"} xref: UMLS:C4082167 {source="NCIT:C116917", source="MONDO:equivalentTo"} xref: UMLS:CN205072 {source="MONDO:equivalentTo"} is_a: MONDO:0019751 {source="Orphanet:42642/inferred", source="PMID:23827249"} ! autoinflammatory syndrome property_value: exactMatch http://identifiers.org/snomedct/717231003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4082167 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205072 property_value: exactMatch NCIT:C116917 property_value: exactMatch Orphanet:42642 property_value: excluded_subClassOf MONDO:0007179 {source="NCIT:C116917"} property_value: excluded_subClassOf MONDO:0015158 {source="Orphanet:42642"} [Term] id: MONDO:0018541 name: familial hypoaldosteronism def: "Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone)." [Orphanet:427] subset: ordo_disease {source="Orphanet:427"} xref: Orphanet:427 {source="MONDO:equivalentTo"} xref: SCTID:715343000 {source="MONDO:equivalentTo"} xref: UMLS:C4275180 {source="MONDO:equivalentTo"} xref: UMLS:CN205074 {source="MONDO:equivalentTo"} is_a: MONDO:0015900 {source="Orphanet:427"} ! hypoaldosteronism disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015971"} ! rare property_value: exactMatch http://identifiers.org/snomedct/715343000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275180 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205074 property_value: exactMatch Orphanet:427 [Term] id: MONDO:0018542 name: severe congenital neutropenia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:42738"} synonym: "neutropenia, severe congenital" EXACT [OMIMPS:202700] synonym: "SCN" EXACT ABBREVIATION [] xref: DOID:0050590 {source="MONDO:equivalentTo"} xref: ICD9:288.01 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10052210 {source="Orphanet:42738/e", source="Orphanet:42738"} xref: NCIT:C166152 {source="MONDO:equivalentTo"} xref: OMIMPS:202700 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:42738 {source="MONDO:equivalentTo"} xref: SCTID:89655007 {source="MONDO:equivalentTo"} is_a: MONDO:0015134 {source="Orphanet:42738"} ! constitutional neutropenia property_value: closeMatch http://identifiers.org/meddra/10052210 property_value: exactMatch DOID:0050590 property_value: exactMatch http://identifiers.org/snomedct/89655007 property_value: exactMatch https://omim.org/phenotypicSeries/PS202700 property_value: exactMatch NCIT:C166152 property_value: exactMatch Orphanet:42738 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0018543 name: autosomal dominant hypocalcemia def: "Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria." [Orphanet:428] subset: gard_rare {source="GARD:0002877"} subset: ordo_clinical_subtype {source="Orphanet:428"} synonym: "AD hypocalcemia" EXACT [Orphanet:428] synonym: "hypocalcemia" BROAD [OMIMPS:601198] synonym: "hypocalcemia, autosomal dominant" EXACT [GARD:0002877] xref: DOID:0090109 {source="MONDO:equivalentTo"} xref: OMIMPS:601198 {source="MONDO:cjm", source="MONDO:equivalentTo", source="DOID:0090109"} xref: Orphanet:428 {source="MONDO:equivalentTo", source="DOID:0090109"} xref: SCTID:711152006 {source="MONDO:equivalentTo"} xref: UMLS:CN205077 {source="MONDO:equivalentTo"} is_a: EFO:0005769 {source="DOID:0090109", source="Orphanet:428/inferred"} ! calcium metabolic disease is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0016390 {source="Orphanet:428", source="https://github.com/monarch-initiative/mondo/issues/1305"} ! familial hypoparathyroidism property_value: exactMatch DOID:0090109 property_value: exactMatch http://identifiers.org/snomedct/711152006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205077 property_value: exactMatch https://omim.org/phenotypicSeries/PS601198 property_value: exactMatch Orphanet:428 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2877/hypocalcemia-autosomal-dominant xsd:anyURI {source="GARD:0002877"} [Term] id: MONDO:0018544 name: adrenoleukodystrophy def: "A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." [Orphanet:43] subset: ordo_disease {source="Orphanet:43"} synonym: "ABCD1 deficiency" EXACT [https://www.clinicalgenome.org/affiliation/40049/] synonym: "adrenoleukodystrophy" EXACT [DOID:10588] synonym: "adrenoleukodystrophy, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "adrenoleukodystrophy, X-linked recessive" EXACT [OMIM:300100, OMIM:genemap2] synonym: "adrenomyeloneuropathy, adult" EXACT [OMIM:300100] synonym: "adrenomyeloneuropathy, adult, X-linked recessive" EXACT [OMIM:300100, OMIM:genemap2] synonym: "ALD" EXACT ABBREVIATION [DOID:10588, Orphanet:43] synonym: "Bronze-Schilder disease" EXACT [DOID:10588] synonym: "diffuse cerebral sclerosis of Schilder" EXACT [DOID:10588] synonym: "diffuse sclerosis" RELATED [DOID:10588] synonym: "encephalitis periaxialis concentrica" EXACT [DOID:10588] synonym: "encephalitis periaxialis, Schilder's" EXACT [DOID:10588] synonym: "Siemerling-Creutzfeldt disease" EXACT [DOID:10588] synonym: "sudanophilic cerebral sclerosis" EXACT [DOID:10588] synonym: "X-ALD" EXACT [Orphanet:43] synonym: "X-linked adrenoleukodystrophy" EXACT [DOID:10588] synonym: "X-linked ALD" EXACT [Orphanet:43] xref: DOID:10588 {source="MONDO:equivalentTo"} xref: ICD9:341.1 {source="DOID:10588", source="MONDO:relatedTo"} xref: MedDRA:10051260 {source="Orphanet:43", source="Orphanet:43/e"} xref: MESH:D000326 {source="DOID:10588", source="Orphanet:43", source="MONDO:equivalentTo", source="Orphanet:43/e"} xref: NCIT:C61252 {source="DOID:10588", source="MONDO:equivalentTo"} xref: OMIM:300100 {source="DOID:10588", source="Orphanet:43", source="MONDO:equivalentTo", source="Orphanet:43/e"} xref: Orphanet:43 {source="MONDO:equivalentTo"} xref: SCTID:49692006 {source="DOID:10588", source="MONDO:relatedTo"} xref: UMLS:C0007795 {source="DOID:10588", source="MONDO:relatedTo"} is_a: EFO:0005539 {source="MONDO:Entailed", source="Orphanet:43", source="Orphanet:43/inferred"} ! adrenal gland disease is_a: MONDO:0000425 {source="MESH:D000326/inferred", source="Orphanet:43"} ! X-linked disease is_a: MONDO:0015547 ! hereditary dementia is_a: MONDO:0019046 {source="DOID:10588", source="NCIT:C61252", source="NCIT:C61252/inferred", source="Orphanet:43"} ! leukodystrophy is_a: MONDO:0100372 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of peroxisomal transporter property_value: closeMatch http://identifiers.org/meddra/10051260 property_value: exactMatch DOID:10588 property_value: exactMatch http://identifiers.org/mesh/D000326 property_value: exactMatch https://omim.org/entry/300100 property_value: exactMatch NCIT:C61252 property_value: exactMatch Orphanet:43 property_value: excluded_subClassOf MONDO:0015129 {source="Orphanet:43"} property_value: excluded_subClassOf MONDO:0019233 {source="Orphanet:43", source="https://www.clinicalgenome.org/affiliation/40049/"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0018550 name: spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:431320"} synonym: "SPOAN and SPOAN-related disorder" EXACT [Orphanet:431320] xref: Orphanet:431320 {source="MONDO:equivalentTo"} xref: UMLS:CN237550 {source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:431320"} ! autosomal recessive complex spastic paraplegia is_a: MONDO:0015358 {source="Orphanet:431320"} ! hereditary motor and sensory neuropathy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237550 property_value: exactMatch Orphanet:431320 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0018555 name: hypogonadotropic hypogonadism def: "Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis." [NCIT:C113347] subset: ordo_disease {source="Orphanet:432"} synonym: "central hypogonadism" EXACT [NCIT:C113347] synonym: "congenital idiopathic hypogonadotropic hypogonadism" NARROW [DOID:0090070] synonym: "gonadotropic deficiency" EXACT [Orphanet:432] synonym: "hypogonadism, hypogonadotropic" EXACT [] synonym: "hypogonadotropic hypogonadism" EXACT [NCIT:C113347] synonym: "hypogonadotropic hypogonadism with or without anosmia" EXACT [OMIMPS:147950] synonym: "hypogonadotropism" RELATED [MONDO:0004228] synonym: "isolated congenital gonadotropin deficiency" NARROW [DOID:0090070] synonym: "isolated hypogonadotropic hypogonadism" RELATED [] synonym: "low gonadotropins (secondary hypogonadism)" EXACT [] synonym: "nIHH" EXACT [Orphanet:432] synonym: "normosmic congenital hypogonadotropic hypogonadism" EXACT [Orphanet:432] synonym: "Normosmic idiopathic hypogonadotropic hypogonadism" EXACT [Orphanet:432] synonym: "secondary hypogonadism" EXACT [NCIT:C113347] xref: DOID:0090070 {source="MONDO:equivalentTo"} xref: DOID:7455 {source="MONDO:equivalentObsolete"} xref: HP:0000044 {source="MONDO:otherHierarchy"} xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="Orphanet:432/ntbt", source="DOID:0090070", source="Orphanet:432/inclusion", source="Orphanet:432"} xref: ICD9:253.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C113347 {source="MONDO:equivalentTo"} xref: OMIMPS:147950 {source="MONDO:equivalentTo", source="DOID:0090070"} xref: Orphanet:432 {source="MONDO:equivalentTo", source="DOID:0090070"} xref: SCTID:33927004 {source="MONDO:equivalentTo"} xref: UMLS:CN235466 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0002146 {source="DOID:0090070", source="MONDO:Redundant", source="NCIT:C113347"} ! hypogonadism property_value: exactMatch DOID:0090070 property_value: exactMatch http://identifiers.org/snomedct/33927004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN235466 property_value: exactMatch https://omim.org/phenotypicSeries/PS147950 property_value: exactMatch NCIT:C113347 property_value: exactMatch Orphanet:432 [Term] id: MONDO:0018559 name: fetal lower urinary tract obstruction subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:435365"} synonym: "LUTO" EXACT ABBREVIATION [Orphanet:435365] xref: Orphanet:435365 {source="MONDO:equivalentTo"} xref: SCTID:717752005 {source="MONDO:equivalentTo"} xref: UMLS:C4305545 {source="MONDO:equivalentTo"} is_a: EFO:0003086 {source="MONDO:Redundant", source="Orphanet:435365", source="Orphanet:435365/inferred"} ! kidney disease is_a: MONDO:0019356 {source="Orphanet:435365/inferred", source="https://github.com/monarch-initiative/mondo-build/issues/58"} ! urogenital tract malformation property_value: exactMatch http://identifiers.org/snomedct/717752005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305545 property_value: exactMatch Orphanet:435365 property_value: excluded_subClassOf MONDO:0015934 {source="Orphanet:435365", source="https://github.com/monarch-initiative/mondo-build/issues/58"} property_value: excluded_subClassOf MONDO:0019719 {source="Orphanet:435365/inferred", source="https://github.com/monarch-initiative/mondo-build/issues/58"} property_value: excluded_subClassOf MONDO:0019720 {source="Orphanet:435365", source="https://github.com/monarch-initiative/mondo-build/issues/58"} [Term] id: MONDO:0018561 name: precocious puberty in female def: "A precocious puberty that involves the female organism." [MONDO:patterns/location] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:435561"} synonym: "female organism precocious puberty" EXACT [MONDO:patterns/location] synonym: "precocious puberty of female organism" EXACT [] xref: HP:0010465 xref: Orphanet:435561 {source="MONDO:equivalentTo"} xref: UMLS:C0271616 {source="MONDO:equivalentTo"} is_a: MONDO:0000088 ! precocious puberty is_a: MONDO:0015860 {source="Orphanet:435561"} ! anomaly of puberty or/and menstrual cycle property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271616 property_value: exactMatch Orphanet:435561 [Term] id: MONDO:0018562 name: hereditary otorhinolaryngological malformation comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:435603"} synonym: "genetic otorhinolaryngological malformation" EXACT [Orphanet:435603] xref: Orphanet:435603 {source="MONDO:equivalentTo"} is_a: MONDO:0015961 {source="Orphanet:435603"} ! hereditary head and neck malformation is_a: MONDO:0018751 {source="Orphanet:435603"} ! hereditary otorhinolaryngologic disease property_value: exactMatch Orphanet:435603 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0018563 name: adactyly of foot subset: ordo_morphological_anomaly {source="Orphanet:435623"} synonym: "congenital absence of toes" EXACT [Orphanet:435623] xref: Orphanet:435623 {source="MONDO:equivalentObsolete"} xref: SCTID:66345008 {source="MONDO:equivalentTo"} is_a: MONDO:0017421 {source="Orphanet:435623"} ! non-syndromic terminal limb defects property_value: exactMatch http://identifiers.org/snomedct/66345008 [Term] id: MONDO:0018565 name: congenital urachal anomaly def: "Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a radiological study) but can also present with umbilical discharge (in patent urachus or urachal sinus), infraumblical mass and pain, or with complications such as obstruction and infection. CUAs include patent urachus, urachal sinus, urachal cyst and urachal diverticulum." [Orphanet:435743] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:435743"} xref: Orphanet:435743 {source="MONDO:equivalentTo"} is_a: MONDO:0019720 {source="Orphanet:435743"} ! non-syndromic renal or urinary tract malformation property_value: exactMatch Orphanet:435743 [Term] id: MONDO:0018570 name: hypophosphatasia def: "Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia)." [Orphanet:436] subset: ordo_disease {source="Orphanet:436"} synonym: "childhood hypophosphatasia" NARROW [DOID:14213] synonym: "deficiency of alkaline phosphatase" EXACT [DOID:14213] synonym: "deficiency of alkaline phosphatase (disorder) [ambiguous]" EXACT [DOID:14213] synonym: "HPP" EXACT ABBREVIATION [Orphanet:436] synonym: "hypophospatasia, childhood" NARROW [DOID:14213] synonym: "hypophosphatasia mild" NARROW [GARD:0006734] synonym: "phosphoethanol-aminuria" RELATED [GARD:0006734] synonym: "phosphoethanolaminuria" EXACT [Orphanet:436] synonym: "Rathburn disease" EXACT [Orphanet:436] xref: DOID:14213 {source="MONDO:equivalentTo"} xref: ICD10CM:E83.3 {source="Orphanet:436/inclusion", source="Orphanet:436", source="Orphanet:436/ntbt", source="MONDO:directSiblingOf"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10049933 {source="Orphanet:436", source="Orphanet:436/e"} xref: MESH:D007014 {source="Orphanet:436", source="MONDO:equivalentTo", source="Orphanet:436/e", source="DOID:14213"} xref: NCIT:C26798 {source="MONDO:equivalentTo", source="DOID:14213"} xref: Orphanet:436 {source="MONDO:equivalentTo"} xref: SCTID:360792001 {source="MONDO:equivalentTo", source="DOID:14213"} xref: UMLS:C0020630 {source="Orphanet:436", source="MONDO:equivalentTo", source="Orphanet:436/e", source="NCIT:C26798", source="DOID:14213"} is_a: MONDO:0000426 {source="DOID:14213", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0015327 {source="MONDO:Redundant", source="Orphanet:436"} ! developmental anomaly of metabolic origin is_a: MONDO:0019052 {source="MESH:D007014/inferred", source="MONDO:Redundant"} ! inborn errors of metabolism property_value: closeMatch http://identifiers.org/meddra/10049933 property_value: exactMatch DOID:14213 property_value: exactMatch http://identifiers.org/mesh/D007014 property_value: exactMatch http://identifiers.org/snomedct/360792001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020630 property_value: exactMatch NCIT:C26798 property_value: exactMatch Orphanet:436 property_value: excluded_subClassOf MONDO:0019705 {source="Orphanet:436"} [Term] id: MONDO:0018574 name: intellectual disability-expressive aphasia-facial dysmorphism syndrome comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: obsoletion_candidate subset: ordo_disease {source="Orphanet:436151"} synonym: "intellectual disability-loss of expressive language-facial dysmorphism syndrome" EXACT [Orphanet:436151] xref: Orphanet:436151 {source="MONDO:equivalentTo"} xref: UMLS:CN237587 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237587 property_value: exactMatch Orphanet:436151 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:436151"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0018575 name: microcephalic primordial dwarfism-insulin resistance syndrome comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: obsoletion_candidate subset: ordo_malformation_syndrome {source="Orphanet:436182"} xref: Orphanet:436182 {source="MONDO:equivalentTo"} xref: UMLS:CN237592 {source="MONDO:equivalentTo"} is_a: MONDO:0019852 {source="Orphanet:436182"} ! inherited primary ovarian failure property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237592 property_value: exactMatch Orphanet:436182 property_value: excluded_subClassOf MONDO:0005015 {source="MONDO:0015885-obsoleted"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5723 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0018580 name: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: obsoletion_candidate subset: ordo_disease {source="Orphanet:438213"} xref: Orphanet:438213 {source="MONDO:equivalentTo"} xref: UMLS:CN237608 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:438213"} ! syndromic intellectual disability is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:438213"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237608 property_value: exactMatch Orphanet:438213 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0018582 name: GCGR-related hyperglucagonemia def: "A rare tumor of pancreas caused by mutations in the GCGR gene characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and markedly increased serum glucagon levels in the absence of a glucagonoma syndrome. Clinical manifestations may include abdominal pain, pancreatitis, fatigue, diarrhea, and diabetes mellitus." [Orphanet:438274] subset: ordo_disease {source="Orphanet:438274"} synonym: "alpha-cell hyperplasia with glucagonemia" EXACT [OMIM:619290] synonym: "Mahvash disease" EXACT [Orphanet:438274] synonym: "MVAH" EXACT ABBREVIATION [OMIM:619290] synonym: "nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumor" EXACT [GARD:0010460] synonym: "nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumour" EXACT OMO:0003005 [] synonym: "nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor" EXACT [GARD:0010460] synonym: "nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumour" EXACT OMO:0003005 [] xref: DOID:0112306 {source="MONDO:equivalentTo"} xref: OMIM:619290 {source="MONDO:equivalentTo"} xref: Orphanet:438274 {source="MONDO:equivalentTo"} xref: UMLS:CN237611 {source="MONDO:equivalentTo"} is_a: EFO:0003860 {source="Orphanet:438274", source="https://orcid.org/0000-0001-5208-3432"} ! pancreatic neoplasm relationship: has_characteristic MONDO:0021136 {source="MONDO:0015621", source="MONDO:0015882"} ! rare property_value: exactMatch DOID:0112306 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237611 property_value: exactMatch https://omim.org/entry/619290 property_value: exactMatch Orphanet:438274 [Term] id: MONDO:0018588 name: ALECT2 amyloidosis def: "A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands." [Orphanet:439224] subset: ordo_disease {source="Orphanet:439224"} synonym: "LECT2 amyloidosis" EXACT [https://orcid.org/0000-0002-2825-0621] synonym: "leukocyte chemotactic factor-2 amyloidosis" EXACT [Orphanet:439224] xref: Orphanet:439224 {source="MONDO:equivalentTo"} is_a: EFO:1001875 {source="Orphanet:439224"} ! amyloidosis property_value: exactMatch Orphanet:439224 [Term] id: MONDO:0018590 name: ABeta2M amyloidosis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:439246"} synonym: "Beta2-microglobulinic amyloidosis" EXACT [Orphanet:439246] xref: DOID:0080928 {source="MONDO:equivalentTo"} xref: Orphanet:439246 {source="MONDO:equivalentTo"} is_a: EFO:1001875 {source="Orphanet:439246"} ! amyloidosis property_value: exactMatch DOID:0080928 property_value: exactMatch Orphanet:439246 [Term] id: MONDO:0018591 name: ITM2B amyloidosis subset: ordo_disease {source="Orphanet:439254"} synonym: "familial cerebral amyloid angiopathy" EXACT [Orphanet:439254] synonym: "ITM2B-related amyloidosis" EXACT [Orphanet:439254] synonym: "ITM2B-related cerebral amyloid angiopathy" EXACT [Orphanet:439254] xref: ICD10EXP:E85.4+ {source="Orphanet:439254", source="Orphanet:439254/attributed", source="Orphanet:439254/ntbt"} xref: ICD10EXP:I68.0* {source="Orphanet:439254", source="Orphanet:439254/attributed", source="Orphanet:439254/ntbt"} xref: ICD9:277.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:439254 {source="MONDO:equivalentTo"} xref: SCTID:45639009 {source="MONDO:equivalentTo"} xref: UMLS:CN237622 {source="MONDO:equivalentTo"} is_a: MONDO:0018634 {source="MONDO:Entailed", source="Orphanet:439254"} ! hereditary amyloidosis is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:439254", source="Orphanet:439254/inferred"} ! inherited neurodegenerative disorder relationship: disease_has_major_feature MONDO:0001627 {source="Orphanet:439254"} ! dementia property_value: exactMatch http://identifiers.org/snomedct/45639009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237622 property_value: exactMatch Orphanet:439254 [Term] id: MONDO:0018598 name: obsolete neonatal adrenoleukodystrophy def: "OBSOLETE. Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD)." [Orphanet:44] subset: gard_rare {source="GARD:0000559"} subset: ordo_disease {source="Orphanet:44"} synonym: "adrenoleukodystrophy autosomal neonatal form" RELATED [GARD:0000559] synonym: "NALD" EXACT ABBREVIATION [Orphanet:44] xref: ICD10CM:E71.511 {source="MONDO:obsoleteEquivalent"} xref: NCIT:C99251 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:44 {source="MONDO:obsoleteEquivalent"} xref: SCTID:238061001 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0282525 {source="Orphanet:44", source="MONDO:obsoleteEquivalent", source="NCIT:C99251", source="Orphanet:44/e"} property_value: exactMatch http://identifiers.org/snomedct/238061001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0282525 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E71.511 property_value: exactMatch NCIT:C99251 property_value: exactMatch Orphanet:44 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3222 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/559/neonatal-adrenoleukodystrophy xsd:anyURI {source="GARD:0000559"} is_obsolete: true consider: MONDO:0019609 [Term] id: MONDO:0018605 name: disorders of pentose/polyol metabolism subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:440701"} xref: Orphanet:440701 {source="MONDO:equivalentTo"} xref: UMLS:CN237637 {source="MONDO:equivalentTo"} is_a: MONDO:0019214 {source="Orphanet:440701"} ! inborn carbohydrate metabolic disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237637 property_value: exactMatch Orphanet:440701 [Term] id: MONDO:0018612 name: congenital hypothyroidism def: "A thyroid hormone deficiency present from birth." [Orphanet:442] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:442"} synonym: "congenital goiter" RELATED [] synonym: "congenital goitre" RELATED OMO:0003005 [] synonym: "congenital hypothyroidism" EXACT [MONDO:patterns/congenital] synonym: "congenital hypothyroidism not due to iodine deficiency" RELATED [] synonym: "congenital iodine deficiency syndrome" EXACT [] synonym: "cretinism" RELATED DEPRECATED [DOID:0050328] synonym: "fetal iodine deficiency syndrome" RELATED [] synonym: "foetal iodine deficiency syndrome" RELATED OMO:0003005 [] synonym: "infantile hypothyroidism" RELATED [] xref: DOID:0050328 {source="MONDO:equivalentTo"} xref: ICD9:243 {source="DOID:0050328"} xref: ICD9:269.3 xref: ICD9:759.89 xref: MedDRA:10010510 {source="Orphanet:442/e", source="Orphanet:442"} xref: MESH:D003409 {source="Orphanet:442/e", source="MONDO:equivalentTo", source="DOID:0050328", source="Orphanet:442"} xref: NCIT:C26734 {source="MONDO:equivalentTo", source="DOID:0050328"} xref: Orphanet:442 {source="MONDO:equivalentTo"} xref: SCTID:190268003 {source="MONDO:equivalentTo", source="DOID:0050328"} xref: SCTID:217710005 {source="MONDO:equivalentTo"} xref: UMLS:C0010308 {source="Orphanet:442/e", source="MONDO:equivalentTo", source="DOID:0050328", source="NCIT:C26734", source="Orphanet:442"} is_a: EFO:0004705 {source="DOID:0050328", source="MESH:D003409", source="MONDO:Redundant", source="NCIT:C26734", source="Orphanet:442", source="Orphanet:442/inferred"} ! hypothyroidism intersection_of: EFO:0004705 ! hypothyroidism intersection_of: has_characteristic MONDO:0021140 ! congenital relationship: has_characteristic MONDO:0021136 {source="MONDO:0015893"} ! rare relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: closeMatch http://identifiers.org/meddra/10010510 property_value: exactMatch DOID:0050328 property_value: exactMatch http://identifiers.org/mesh/D003409 property_value: exactMatch http://identifiers.org/snomedct/190268003 property_value: exactMatch http://identifiers.org/snomedct/217710005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010308 property_value: exactMatch NCIT:C26734 property_value: exactMatch Orphanet:442 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0018614 name: undetermined early-onset epileptic encephalopathy def: "A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities." [Orphanet:442835] subset: ordo_disease {source="Orphanet:442835"} synonym: "undetermined early-onset epileptic encephalopathy" EXACT [] synonym: "undetermined EOEE" EXACT [Orphanet:442835] xref: Orphanet:442835 {source="MONDO:equivalentTo"} is_a: MONDO:0015653 ! monogenic epilepsy is_a: MONDO:0019216 {source="PMID:33340416"} ! inborn disorder of amino acid transport is_a: MONDO:0020070 {source="Orphanet:442835"} ! neonatal epilepsy syndrome is_a: MONDO:0020071 {source="Orphanet:442835"} ! infantile epilepsy syndrome property_value: exactMatch Orphanet:442835 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0018630 name: hereditary nonpolyposis colon cancer def: "Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age." [Orphanet:443909] subset: clingen subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:443909"} synonym: "colorectal cancer, hereditary nonpolyposis" EXACT [OMIMPS:120435] synonym: "familial nonpolyposis colon cancer" EXACT [Orphanet:443909] synonym: "familial nonpolyposis colorectal cancer" EXACT [Orphanet:443909] synonym: "hereditary nonpolyposis colon cancer" EXACT [NCIT:C120083] synonym: "hereditary nonpolyposis colorectal cancer" EXACT [NCIT:C120083, Orphanet:443909] synonym: "Hereditary nonpolyposis colorectal cancer (HNPCC)" EXACT [NCIT:C120083] synonym: "HNPCC" EXACT ABBREVIATION [NCIT:C120083, Orphanet:443909] xref: NCIT:C120083 {source="MONDO:equivalentTo"} xref: OMIMPS:120435 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:443909 {source="MONDO:equivalentTo"} xref: SCTID:315058005 {source="MONDO:equivalentTo"} xref: UMLS:C0009405 {source="Orphanet:443909", source="MONDO:relatedTo", source="NCIT:C120083"} xref: UMLS:CN237674 {source="MONDO:equivalentTo"} is_a: MONDO:0018538 {source="Orphanet:443909"} ! inherited digestive cancer-predisposing syndrome is_a: MONDO:0023113 {source="https://github.com/monarch-initiative/mondo/issues/1627"} ! familial colorectal cancer property_value: exactMatch http://identifiers.org/snomedct/315058005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237674 property_value: exactMatch https://omim.org/phenotypicSeries/PS120435 property_value: exactMatch NCIT:C120083 property_value: exactMatch Orphanet:443909 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1673 xsd:anyURI property_value: relatedMatch http://linkedlifedata.com/resource/umls/id/C0009405 property_value: seeAlso https://my.clevelandclinic.org/health/diseases/17195-lynch-syndrome--hnpcc xsd:string [Term] id: MONDO:0018631 name: Marie Unna hereditary hypotrichosis def: "A rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty." [https://orcid.org/0000-0001-5208-3432, Orphanet:444] subset: ordo_disease {source="Orphanet:444"} synonym: "HR hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hypotrichosis caused by mutation in HR" EXACT [MONDO:design_pattern] synonym: "hypotrichosis, Marie Unna type" EXACT [Orphanet:444] synonym: "Marie Unna congenital hypotrichosis" EXACT [Orphanet:444] synonym: "MUHH" EXACT ABBREVIATION [Orphanet:444] xref: MESH:C535912 {source="Orphanet:444", source="MONDO:equivalentTo", source="Orphanet:444/e"} xref: Orphanet:444 {source="MONDO:equivalentTo"} xref: UMLS:C2931059 {source="Orphanet:444", source="MONDO:equivalentTo", source="Orphanet:444/e"} is_a: MONDO:0003037 {source="DOID:0110701", source="MESH:C567718", source="MONDO:Redundant", source="OMIM:146550"} ! hypotrichosis property_value: exactMatch http://identifiers.org/mesh/C535912 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931059 property_value: exactMatch Orphanet:444 property_value: excluded_subClassOf MONDO:0004907 {source="Orphanet:444"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5166 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6357 xsd:anyURI [Term] id: MONDO:0018634 name: hereditary amyloidosis def: "Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants." [https://rarediseases.info.nih.gov/diseases/6611/hereditary-amyloidosis] subset: disease_grouping subset: gard_rare {source="GARD:0006611"} subset: ordo_group_of_disorders {source="Orphanet:444116"} synonym: "amyloidosis hereditary" RELATED [GARD:0006611] synonym: "amyloidosis, Familial" EXACT [NCIT:C84555] synonym: "familial amyloidosis" RELATED [GARD:0006611] synonym: "hereditary amyloidosis (disease)" EXACT [MONDO:patterns/hereditary] xref: MESH:D028226 {source="MONDO:equivalentTo"} xref: NCIT:C84555 {source="MONDO:equivalentTo"} xref: Orphanet:444116 {source="MONDO:equivalentTo"} xref: SCTID:367601000119103 {source="MONDO:equivalentTo"} xref: UMLS:C0206246 {source="MONDO:equivalentObsolete", source="Orphanet:444116"} is_a: EFO:1001875 {source="MESH:D028226", source="MONDO:Redundant", source="NCIT:C84555"} ! amyloidosis is_a: MONDO:0019052 {source="MESH:D028226", source="MONDO:Redundant"} ! inborn errors of metabolism intersection_of: EFO:1001875 ! amyloidosis intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/mesh/D028226 property_value: exactMatch http://identifiers.org/snomedct/367601000119103 property_value: exactMatch NCIT:C84555 property_value: exactMatch Orphanet:444116 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6611/hereditary-amyloidosis xsd:anyURI {source="GARD:0006611"} [Term] id: MONDO:0018637 name: familial chylomicronemia syndrome subset: ordo_disease {source="Orphanet:444490"} xref: DOID:0111417 {source="MONDO:equivalentTo"} xref: Orphanet:444490 {source="MONDO:equivalentTo"} xref: UMLS:CN231410 {source="MONDO:equivalentTo"} is_a: MONDO:0015902 {source="Orphanet:444490"} ! major hypertriglyceridemia property_value: exactMatch DOID:0111417 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN231410 property_value: exactMatch Orphanet:444490 [Term] id: MONDO:0018638 name: pseudohypoaldosteronism def: "An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis, urinary salt wasting, normal or increased aldosterone secretion and normal glomerular filtration rate." [NCIT:C85034] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:444916"} xref: DOID:4479 {source="MONDO:equivalentTo"} xref: ICD9:255.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D011546 {source="DOID:4479", source="MONDO:equivalentTo"} xref: NCIT:C85034 {source="DOID:4479", source="MONDO:equivalentTo"} xref: Orphanet:444916 {source="MONDO:equivalentTo"} xref: SCTID:77098009 {source="DOID:4479", source="MONDO:equivalentTo"} xref: UMLS:C0033805 {source="DOID:4479", source="MONDO:equivalentTo", source="NCIT:C85034", source="Orphanet:444916"} is_a: EFO:1000647 {source="DOID:4479", source="MESH:D011546"} ! renal tubular transport disease property_value: exactMatch DOID:4479 property_value: exactMatch http://identifiers.org/mesh/D011546 property_value: exactMatch http://identifiers.org/snomedct/77098009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033805 property_value: exactMatch NCIT:C85034 property_value: exactMatch Orphanet:444916 [Term] id: MONDO:0018639 name: caudal regression-sirenomelia spectrum def: "Caudal regression-sirenomelia spectrum is a group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported." [Orphanet:444941] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:444941"} xref: Orphanet:444941 {source="MONDO:equivalentTo"} is_a: MONDO:0015246 {source="Orphanet:444941"} ! syndromic anorectal malformation is_a: MONDO:0015620 {source="Orphanet:444941"} ! syndromic urogenital tract malformation is_a: MONDO:0019054 {source="MONDO:0015226-obsoleted"} ! congenital limb malformation property_value: exactMatch Orphanet:444941 [Term] id: MONDO:0018640 name: secondary vasculitis comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:445197"} xref: Orphanet:445197 {source="MONDO:equivalentTo"} is_a: EFO:0006803 {source="Orphanet:445197"} ! vasculitis property_value: exactMatch Orphanet:445197 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0018641 name: obsolete paroxysmal nocturnal hemoglobinuria comment: Split this term to create a grouping class with acquired and inherited forms as children. is_obsolete: true replaced_by: MONDO:0100245 [Term] id: MONDO:0018642 name: NIK deficiency def: "A immunodeficiency disorder caused by loss of function mutation in NIK (MAP3K14)." [doi:10.1038/ncomms6360] subset: ordo_disease {source="Orphanet:447731"} synonym: "MAP3K14 non-severe combined immunodeficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "non-severe combined immunodeficiency caused by mutation in MAP3K14" EXACT [MONDO:design_pattern] synonym: "primary immunodeficiency with multifaceted aberrant lymphoid immunity" EXACT [Orphanet:447731] xref: Orphanet:447731 {source="MONDO:equivalentTo"} is_a: MONDO:0018814 {source="MONDO:Redundant", source="Orphanet:447731", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency property_value: exactMatch Orphanet:447731 [Term] id: MONDO:0018648 name: Keratocystic odontogenic tumor def: "An intraosseous odontogenic neoplasm that usually arises from the mandible. It is characterized by the presence of a single or multiple cysts lined with parakeratinized stratified squamous epithelium. The neoplastic lesions may be solitary or multiple. It has the potential for aggressive behavior, local destruction, and recurrence." [NCIT:C54302] subset: ordo_disease {source="Orphanet:447777"} synonym: "KTOC" EXACT ABBREVIATION [Orphanet:447777] synonym: "odontogenic Keratocyst" EXACT [NCIT:C54302] synonym: "odontogenic keratocystoma" EXACT [Orphanet:447777] xref: NCIT:C54302 {source="MONDO:equivalentTo"} xref: Orphanet:447777 {source="MONDO:equivalentTo"} xref: SCTID:713277006 {source="MONDO:equivalentTo"} xref: UMLS:C1708604 {source="MONDO:equivalentTo", source="NCIT:C54302"} xref: UMLS:CN237705 {source="MONDO:equivalentTo"} is_a: MONDO:0021192 {source="Orphanet:447777"} ! odontogenic neoplasm relationship: has_characteristic MONDO:0021136 {source="MONDO:0017797"} ! rare property_value: exactMatch http://identifiers.org/snomedct/713277006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1708604 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237705 property_value: exactMatch NCIT:C54302 property_value: exactMatch Orphanet:447777 [Term] id: MONDO:0018653 name: Polymerase proofreading-related adenomatous polyposis subset: ordo_clinical_subtype {source="Orphanet:447877"} synonym: "Polymerase proofreading-related adenomatous polyposis" EXACT [] synonym: "PPAP" EXACT ABBREVIATION [Orphanet:447877] xref: NCIT:C162484 {source="MONDO:equivalentTo"} xref: Orphanet:447877 {source="MONDO:equivalentTo"} is_a: MONDO:0016362 {source="Orphanet:447877"} ! attenuated familial adenomatous polyposis property_value: exactMatch NCIT:C162484 property_value: exactMatch Orphanet:447877 [Term] id: MONDO:0018656 name: tremor-ataxia-central hypomyelination syndrome subset: ordo_disease {source="Orphanet:447896"} synonym: "TACH syndrome" EXACT [Orphanet:447896] xref: Orphanet:447896 {source="MONDO:equivalentTo"} xref: UMLS:CN237714 {source="MONDO:equivalentTo"} is_a: EFO:0009671 {source="Orphanet:447896"} ! hereditary ataxia is_a: MONDO:0004884 ! eye degenerative disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237714 property_value: exactMatch Orphanet:447896 property_value: excluded_subClassOf MONDO:0011897 [Term] id: MONDO:0018660 name: hemophilia def: "Hemophilia is a genetic disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency." [Orphanet:448] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:448"} synonym: "hemophilia" EXACT [] xref: MedDRA:10061992 {source="Orphanet:448", source="Orphanet:448/e"} xref: NCIT:C3093 {source="MONDO:equivalentTo"} xref: Orphanet:448 {source="MONDO:equivalentTo"} xref: SCTID:90935002 {source="MONDO:equivalentTo"} xref: UMLS:C0684275 {source="Orphanet:448", source="MONDO:equivalentTo", source="Orphanet:448/e", source="NCIT:C3093"} is_a: MONDO:0002242 {source="NCIT:C3093"} ! coagulation protein disease property_value: closeMatch http://identifiers.org/meddra/10061992 property_value: exactMatch http://identifiers.org/snomedct/90935002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0684275 property_value: exactMatch NCIT:C3093 property_value: exactMatch Orphanet:448 property_value: excluded_subClassOf MONDO:0019039 {source="Orphanet:448"} [Term] id: MONDO:0018661 name: Zika virus infectious disease def: "Mosquito-born virus disease characterized by a clinical course that may be asymptomatic or mild with fever, conjunctivitis, muscle and joint pain, headache, exanthema, but may also be associated with severe neurological (meningitis, meningoencephalitis and myelitis) and auto-immune (Guillain-Barre syndrome) complications, as well as a potential increase of birth defects (microcephaly) if the infection occurs during pregnancy." [Orphanet:448237] subset: gard_rare subset: ordo_disease {source="Orphanet:448237"} synonym: "congenital Zika syndrome" NARROW [MESH:D000071243] synonym: "congenital Zika virus infection" NARROW [MESH:D000071243] synonym: "fever, Zika" RELATED [MESH:D000071243] synonym: "Zika" EXACT [NCIT:C128423] synonym: "Zika fever" RELATED [DOID:0060478, GARD:0012894] synonym: "Zika virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Zika virus disease" EXACT [DOID:0060478, GARD:0012894] synonym: "Zika virus disease or disorder" EXACT [] synonym: "Zika virus infection" EXACT [Orphanet:448237] synonym: "Zika virus infectious disease" EXACT [] synonym: "ZikV infection" EXACT [MESH:D000071243] xref: DOID:0060478 {source="MONDO:equivalentTo"} xref: ICD10CM:A92.5 {source="MONDO:equivalentTo"} xref: MESH:D000071243 {source="MONDO:equivalentTo", source="DOID:0060478"} xref: NCIT:C128423 {source="MONDO:equivalentTo"} xref: Orphanet:448237 {source="MONDO:equivalentTo"} xref: SCTID:3928002 {source="MONDO:equivalentTo"} xref: UMLS:C0276289 {source="GARD:0012894", source="MONDO:equivalentTo", source="NCIT:C128423"} xref: UMLS:CN237724 {source="MONDO:equivalentTo"} is_a: EFO:0007274 ! Flaviviridae infectious disease is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease relationship: disease_has_feature EFO:0009450 {source="MONDO:Wikidata"} ! conjunctivitis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015576"} ! rare property_value: exactMatch DOID:0060478 property_value: exactMatch http://identifiers.org/mesh/D000071243 property_value: exactMatch http://identifiers.org/snomedct/3928002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0276289 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237724 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A92.5 property_value: exactMatch NCIT:C128423 property_value: exactMatch Orphanet:448237 [Term] id: MONDO:0018662 name: autosomal recessive brachyolmia def: "Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur." [Orphanet:448242] subset: ordo_malformation_syndrome {source="Orphanet:448242"} synonym: "brachyolmia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] synonym: "brachyolmia, Hobaek/Toledo type" EXACT [Orphanet:448242] xref: Orphanet:448242 {source="MONDO:equivalentTo"} xref: UMLS:CN237725 {source="MONDO:equivalentTo"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0015262 {source="MONDO:Redundant", source="Orphanet:448242"} ! brachyolmia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237725 property_value: exactMatch Orphanet:448242 [Term] id: MONDO:0018663 name: regressive spondylometaphyseal dysplasia subset: ordo_malformation_syndrome {source="Orphanet:448267"} synonym: "Pelger-Huet anomaly with mild skeletal anomalies" EXACT [OMIM:618019, OMIM:genemap2] synonym: "regressive spondylometaphyseal dysplasia" EXACT [] xref: OMIM:618019 {source="MONDO:equivalentTo"} xref: Orphanet:448267 {source="MONDO:equivalentTo"} xref: UMLS:CN248525 {source="MONDO:equivalentTo"} is_a: MONDO:0016763 {source="Orphanet:448267"} ! spondylometaphyseal dysplasia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN248525 property_value: exactMatch https://omim.org/entry/618019 property_value: exactMatch Orphanet:448267 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0018675 name: IgG4-related ophthalmic disorder def: "A IgG4-related disease that involves the eye." [MONDO:patterns/location] subset: ordo_disease {source="Orphanet:449563"} synonym: "eye IgG4-related disease" EXACT [MONDO:patterns/location] synonym: "IgG4-related disease of eye" EXACT [] xref: Orphanet:449563 {source="MONDO:equivalentTo"} xref: UMLS:CN237741 {source="MONDO:equivalentTo"} is_a: EFO:0003966 {source="MONDO:0015937-obsoleted"} ! eye disease is_a: MONDO:0017287 {source="Orphanet:449563"} ! IgG4-related disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237741 property_value: exactMatch Orphanet:449563 [Term] id: MONDO:0018677 name: visceral heterotaxy def: "A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton." [NCIT:C117273] subset: clingen subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:450"} subset: ordo_morphological_anomaly {source="Orphanet:157769"} synonym: "heterotaxia" EXACT [DOID:0050545] synonym: "heterotaxia syndrome" EXACT [NCIT:C117273] synonym: "heterotaxy syndrome" EXACT [Orphanet:450] synonym: "heterotaxy, visceral" EXACT [OMIMPS:306955] synonym: "incomplete situs inversus" EXACT [Orphanet:157769] synonym: "lateralization defect" EXACT [Orphanet:450] synonym: "partial situs inversus" EXACT [Orphanet:157769] synonym: "situs ambiguous" EXACT [Orphanet:157769] synonym: "situs ambiguus" EXACT [DOID:0050545, MONDO:0015522] synonym: "visceral heterotaxy" EXACT [Orphanet:450] xref: DOID:0050545 {source="MONDO:equivalentTo"} xref: EFO:0009081 {source="MONDO:equivalentTo"} xref: MedDRA:10059119 {source="Orphanet:157769", source="Orphanet:157769/e"} xref: MedDRA:10067265 {source="Orphanet:450/e", source="Orphanet:450"} xref: NCIT:C117273 {source="MONDO:equivalentTo"} xref: OMIMPS:306955 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:157769 {source="MONDO:equivalentTo"} xref: Orphanet:450 {source="MONDO:equivalentTo", source="DOID:0050545"} xref: SCTID:14821001 {source="MONDO:equivalentTo"} xref: UMLS:C3178805 {source="Orphanet:450/e", source="MONDO:equivalentTo", source="Orphanet:450", source="NCIT:C117273"} is_a: MONDO:0002254 {source="NCIT:C117273"} ! syndromic disease is_a: MONDO:0017131 {source="Orphanet:157769"} ! hereditary cardiac anomaly is_a: MONDO:0020284 {source="Orphanet:450"} ! heart position anomaly property_value: closeMatch http://identifiers.org/meddra/10059119 property_value: closeMatch http://identifiers.org/meddra/10067265 property_value: exactMatch DOID:0050545 property_value: exactMatch http://identifiers.org/snomedct/14821001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3178805 property_value: exactMatch https://omim.org/phenotypicSeries/PS306955 property_value: exactMatch NCIT:C117273 property_value: exactMatch Orphanet:157769 property_value: exactMatch Orphanet:450 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2826 xsd:anyURI [Term] id: MONDO:0018681 name: neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome subset: clingen subset: ordo_malformation_syndrome {source="Orphanet:453499"} synonym: "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome" EXACT [] xref: Orphanet:453499 {source="MONDO:equivalentTo"} xref: UMLS:CN237747 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:453499"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237747 property_value: exactMatch Orphanet:453499 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:453499", source="https://clinicalgenome.org/affiliation/40060/"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0018683 name: acquired ichthyosis def: "Noninherited ichthyosis associated with malignancy; autoimmune, inflammatory, nutritional, metabolic, infectious, and neurologic diseases; or medications." [PMID:20643494] subset: gard_rare {source="GARD:0000476"} subset: ordo_disease {source="Orphanet:454"} synonym: "acquired ichthyosis" EXACT [NCIT:C112831] synonym: "acquired ichthyosis (disease)" EXACT [MONDO:patterns/acquired] synonym: "fish scale disease, acquired" RELATED [GARD:0000476] synonym: "ichthyosis acquisita" EXACT [GARD:0000476, NCIT:C112831] synonym: "ichthyosis, acquired" RELATED [GARD:0000476] xref: ICD10CM:L85.0 {source="Orphanet:454/e", source="MONDO:equivalentTo", source="Orphanet:454"} xref: MESH:C538175 {source="MONDO:equivalentTo"} xref: NCIT:C112831 {source="MONDO:equivalentTo"} xref: Orphanet:454 {source="MONDO:equivalentTo"} xref: SCTID:8691004 {source="MONDO:equivalentTo"} is_a: MONDO:0019269 {source="MESH:C538175", source="MONDO:Redundant", source="NCIT:C112831/inferred", source="Orphanet:454"} ! ichthyosis intersection_of: MONDO:0019269 ! ichthyosis intersection_of: has_characteristic MONDO:0021141 ! acquired relationship: has_characteristic MONDO:0021141 ! acquired property_value: exactMatch http://identifiers.org/mesh/C538175 property_value: exactMatch http://identifiers.org/snomedct/8691004 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L85.0 property_value: exactMatch NCIT:C112831 property_value: exactMatch Orphanet:454 property_value: excluded_subClassOf MONDO:0024304 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2114 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/476/ichthyosis-acquired xsd:anyURI {source="GARD:0000476"} [Term] id: MONDO:0018686 name: acquired Creutzfeldt-Jakob disease alt_id: MONDO:0025169 def: "An instance of Creutzfeldt Jacob disease that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] subset: ordo_disease {source="Orphanet:454700"} synonym: "acquired CJD" EXACT [MESH:C538481] synonym: "acquired Creutzfeldt Jacob disease" EXACT [MONDO:patterns/acquired] synonym: "sporadic CJD" RELATED [MESH:C538481] xref: MESH:C538481 {source="MONDO:equivalentTo"} xref: Orphanet:454700 {source="MONDO:equivalentTo"} xref: UMLS:CN237752 {source="MONDO:equivalentTo"} is_a: EFO:0004226 {source="MESH:C538481", source="MONDO:Redundant"} ! Creutzfeldt Jacob Disease intersection_of: EFO:0004226 ! Creutzfeldt Jacob Disease intersection_of: has_characteristic MONDO:0021141 ! acquired relationship: has_characteristic MONDO:0021141 ! acquired property_value: exactMatch http://identifiers.org/mesh/C538481 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237752 property_value: exactMatch Orphanet:454700 property_value: excluded_subClassOf MONDO:0025149 {source="MESH:C538481"} [Term] id: MONDO:0018696 name: corticobasal syndrome def: "Corticobasal syndrome (CBS) is a rare neurodegenerative disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction." [Orphanet:454887] subset: ordo_disease {source="Orphanet:454887"} xref: Orphanet:454887 {source="MONDO:equivalentTo"} xref: UMLS:CN237765 {source="MONDO:equivalentTo"} is_a: EFO:0004280 ! movement disorder is_a: MONDO:0015547 {source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary dementia is_a: MONDO:0024237 {source="MONDO:Redundant", source="MONDO:indirect"} ! inherited neurodegenerative disorder relationship: disease_arises_from_feature EFO:0005772 ! neurodegenerative disease relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237765 property_value: exactMatch Orphanet:454887 [Term] id: MONDO:0018698 name: hereditary neuroendocrine tumor of small intestine def: "An instance of neuroendocrine tumor of the small intestine that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: ordo_disease {source="Orphanet:456333"} synonym: "hereditary neuroendocrine tumor of small bowel" EXACT [Orphanet:456333] synonym: "hereditary neuroendocrine tumor of the small intestine" EXACT [MONDO:patterns/hereditary] synonym: "hereditary neuroendocrine tumour of small bowel" EXACT OMO:0003005 [] synonym: "hereditary neuroendocrine tumour of the small intestine" EXACT OMO:0003005 [] synonym: "hereditary small intestine neuroendocrine neoplasm" EXACT [MONDO:patterns/hereditary] xref: Orphanet:456333 {source="MONDO:equivalentTo"} xref: UMLS:CN237770 {source="MONDO:equivalentTo"} xref: UMLS:CN847586 {source="MONDO:equivalentTo"} is_a: EFO:1001928 ! small intestine neuroendocrine tumor is_a: MONDO:0017128 ! inherited digestive tract tumor is_a: MONDO:0018538 {source="Orphanet:456333"} ! inherited digestive cancer-predisposing syndrome is_a: MONDO:0025511 ! inherited neuroendocrine tumor intersection_of: EFO:1001928 ! small intestine neuroendocrine tumor intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237770 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN847586 property_value: exactMatch Orphanet:456333 [Term] id: MONDO:0018701 name: congenital nemaline myopathy comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:457074"} xref: Orphanet:457074 {source="MONDO:equivalentTo"} is_a: MONDO:0019952 {source="Orphanet:457074"} ! congenital myopathy property_value: exactMatch Orphanet:457074 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0018715 name: congenital hemangioma def: "A hemangioma present and fully formed at birth. The different types are Rapidly involuting congenital hemangiomas (RICH), Partially involuting congenital hemangioma (PICH) and Non-involuting congenital hemangiomas (NICH)." [https://www.cincinnatichildrens.org/health/c/congenital-hemangioma, NCIT:C3841] comment: Editor note: this is distinct from inflantile hemangioma subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:458775"} synonym: "congenital angioma" RELATED [NCIT:C3841] synonym: "congenital hemangioma" EXACT [NCIT:C3841] xref: NCIT:C3841 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: Orphanet:458775 {source="MONDO:equivalentTo"} xref: SCTID:32361000119104 {source="MONDO:equivalentTo"} xref: UMLS:C0235753 {source="MONDO:equivalentTo", source="NCIT:C3841"} is_a: EFO:1000635 {source="MONDO:cjm", source="NCIT:C3841"} ! hemangioma relationship: has_characteristic MONDO:0021136 {source="MONDO:0016228"} ! rare relationship: has_characteristic MONDO:0021140 ! congenital property_value: exactMatch http://identifiers.org/snomedct/32361000119104 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0235753 property_value: exactMatch NCIT:C3841 property_value: exactMatch Orphanet:458775 [Term] id: MONDO:0018720 name: common cystic lymphatic malformation comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:458833"} xref: Orphanet:458833 {source="MONDO:equivalentTo"} is_a: MONDO:0002013 {source="Orphanet:458833"} ! lymphangioma property_value: exactMatch Orphanet:458833 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0018731 name: lethal multiple congenital anomalies/dysmorphic syndrome comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:459787"} xref: Orphanet:459787 {source="MONDO:equivalentTo"} is_a: MONDO:0019042 {source="Orphanet:459787"} ! multiple congenital anomalies/dysmorphic syndrome property_value: exactMatch Orphanet:459787 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0018740 name: drug-induced methemoglobinemia def: "Methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene)." [NCIT:C101045] subset: ordo_disease {source="Orphanet:464453"} synonym: "acquired methemoglobinemia" BROAD [MONDO:patterns/acquired, Orphanet:464453] synonym: "drug induced methemoglobinemia" EXACT [NCIT:C101045] xref: NCIT:C101045 {source="MONDO:equivalentTo"} xref: Orphanet:464453 {source="MONDO:equivalentTo"} xref: SCTID:191390009 {source="MONDO:equivalentTo"} xref: UMLS:C0271905 {source="MONDO:equivalentTo"} is_a: MONDO:0001117 {source="MONDO:Redundant", source="NCIT:C101045/inferred"} ! methemoglobinemia is_a: MONDO:0044349 ! acquired hemoglobinopathy intersection_of: MONDO:0001117 ! methemoglobinemia intersection_of: has_characteristic MONDO:0021141 ! acquired property_value: exactMatch http://identifiers.org/snomedct/191390009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271905 property_value: exactMatch NCIT:C101045 property_value: exactMatch Orphanet:464453 [Term] id: MONDO:0018743 name: immune-mediated acquired neuromuscular junction disease comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:464764"} xref: Orphanet:464764 {source="MONDO:equivalentTo"} xref: UMLS:CN242076 {source="MONDO:equivalentTo"} is_a: MONDO:0020125 {source="Orphanet:464764"} ! acquired neuromuscular junction disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242076 property_value: exactMatch Orphanet:464764 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0018744 name: oligodendroglial tumor def: "Oligodendrogliomas are cerebral tumors that are differentiated from other gliomas on the basis of their unique genetic characteristics and better response to chemotherapy. These tumors are classified according to their grade (low grade oligodendrogliomas: grade II of the WHO classification and anaplastic oligodendrogliomas: grade III of the WHO classification) and according to their pure or mixed histology (oligoastrocytomas)." [Orphanet:46484] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:46484"} synonym: "oligodendroglial neoplasm" EXACT [NCIT:C6960] synonym: "oligodendroglial tumor" EXACT [NCIT:C6960] xref: NCIT:C6960 {source="MONDO:equivalentTo"} xref: Orphanet:46484 {source="MONDO:equivalentTo"} xref: UMLS:C1335110 {source="NCIT:C6960", source="MONDO:equivalentTo"} xref: UMLS:CN205116 {source="MONDO:equivalentTo"} is_a: MONDO:0100342 {source="Orphanet:46484"} ! malignant glioma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335110 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205116 property_value: exactMatch NCIT:C6960 property_value: exactMatch Orphanet:46484 [Term] id: MONDO:0018745 name: superficial pemphigus def: "Pemphigus is a group of chronic autoimmune skin diseases characterized by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterized, one of which is superficial pemphigus, including the seborrheic, erythematosus, foliaceous and herpetiform variants." [Orphanet:46485] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:46485"} xref: Orphanet:46485 {source="MONDO:equivalentTo"} xref: UMLS:CN227541 {source="MONDO:equivalentTo"} is_a: EFO:0008598 {source="Orphanet:46485"} ! autoimmune bullous skin disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227541 property_value: exactMatch Orphanet:46485 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0018749 name: hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome def: "Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells." [Orphanet:46532] subset: ordo_disease {source="Orphanet:46532"} synonym: "HPFH-beta-thalassemia syndrome" EXACT [Orphanet:46532] xref: HGNC:3627 {source="Orphanet:46532/btnt", source="Orphanet:46532"} xref: HGNC:5153 {source="Orphanet:46532/btnt", source="Orphanet:46532"} xref: OMIM:141749 {source="MONDO:relatedTo", source="Orphanet:46532/btnt", source="Orphanet:46532"} xref: OMIM:142470 {source="MONDO:relatedTo", source="Orphanet:46532/btnt", source="Orphanet:46532"} xref: OMIM:613566 {source="MONDO:relatedTo", source="Orphanet:46532/btnt", source="Orphanet:46532"} xref: Orphanet:46532 {source="MONDO:equivalentTo"} xref: UMLS:CN205122 {source="MONDO:equivalentTo"} is_a: MONDO:0017145 {source="Orphanet:46532"} ! beta-thalassemia and related diseases property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205122 property_value: exactMatch Orphanet:46532 property_value: relatedMatch https://omim.org/entry/141749 property_value: relatedMatch https://omim.org/entry/142470 property_value: relatedMatch https://omim.org/entry/613566 [Term] id: MONDO:0018750 name: obsolete class I glucose-6-phosphate dehydrogenase deficiency property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4202 xsd:anyURI is_obsolete: true replaced_by: MONDO:0010480 [Term] id: MONDO:0018751 name: hereditary otorhinolaryngologic disease def: "An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:466084"} synonym: "genetic otorhinolaryngologic disease" EXACT [MONDO:patterns/genetic] xref: Orphanet:466084 {source="MONDO:equivalentTo"} xref: UMLS:CN242186 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0024623 ! otorhinolaryngologic disease intersection_of: MONDO:0024623 ! otorhinolaryngologic disease intersection_of: has_characteristic MONDO:0021152 ! inherited relationship: has_characteristic MONDO:0021136 {source="MONDO:0021198"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242186 property_value: exactMatch Orphanet:466084 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI [Term] id: MONDO:0018758 name: familial patent arterial duct def: "Familial patent arterial duct is a rare, genetic, non-syndromic, congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities." [Orphanet:466729] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: obsoletion_candidate subset: ordo_morphological_anomaly {source="Orphanet:466729"} xref: Orphanet:466729 {source="MONDO:equivalentTo"} xref: UMLS:CN242171 {source="MONDO:equivalentTo"} is_a: MONDO:0017131 {source="Orphanet:466729"} ! hereditary cardiac anomaly is_a: MONDO:0019822 {source="Orphanet:466729"} ! arterial duct anomaly property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242171 property_value: exactMatch Orphanet:466729 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0018760 name: DeSanto-Shinawi syndrome subset: ordo_malformation_syndrome {source="Orphanet:466943"} synonym: "WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome" EXACT [Orphanet:466943] xref: DOID:0081126 {source="MONDO:equivalentTo"} xref: Orphanet:466943 {source="MONDO:equivalentTo"} xref: UMLS:CN242159 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:466943"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch DOID:0081126 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242159 property_value: exactMatch Orphanet:466943 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:466943", source="https://clinicalgenome.org/affiliation/40060/"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5424 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0018762 name: non-acquired combined pituitary hormone deficiency def: "Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis." [Orphanet:467] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:467"} synonym: "congenital combined pituitary hormone deficiency" EXACT [Orphanet:467] synonym: "congenital hypopituitarism" EXACT [Orphanet:467] xref: ICD10CM:E23.0 {source="Orphanet:467", source="MONDO:relatedTo", source="Orphanet:467/attributed", source="Orphanet:467/ntbt"} xref: Orphanet:467 {source="MONDO:equivalentTo"} is_a: MONDO:0019824 {source="Orphanet:467"} ! non-acquired pituitary hormone deficiency property_value: exactMatch Orphanet:467 [Term] id: MONDO:0018764 name: microcephalic primordial dwarfism due to RTTN deficiency def: "Microcephalic primordial dwarfism due to RTTN deficiency is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by primary microcephaly, profound short stature, moderate to severe intellectual disability, global developmental delay, craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) and variable brain malformations, including simplified gyration, pachygyria, polymicrogyria, reduced sulcation, dysgenesis of corpus callosum and deformed ventricles. Renal anomalies, bilateral hearing loss, multiple joint contractures, severe failure to thrive and a sacral lesion cephalad to the gluteal crease have also been reported." [Orphanet:468631] subset: ordo_malformation_syndrome {source="Orphanet:468631"} xref: OMIM:614833 {source="Orphanet:468631", source="MONDO:equivalentTo"} xref: Orphanet:468631 {source="MONDO:equivalentTo"} is_a: MONDO:0017950 {source="Orphanet:468631"} ! microcephalic primordial dwarfism property_value: exactMatch https://omim.org/entry/614833 property_value: exactMatch Orphanet:468631 [Term] id: MONDO:0018768 name: familial cold autoinflammatory syndrome def: "Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia." [Orphanet:47045] subset: ordo_disease {source="Orphanet:47045"} synonym: "familial cold autoinflammatory syndrome" EXACT [Orphanet:47045] synonym: "familial cold urticaria" RELATED [Orphanet:47045] synonym: "familial polymorphous cold eruption" RELATED [GARD:0009535] synonym: "FCAS" EXACT ABBREVIATION [Orphanet:47045] synonym: "FCU" EXACT ABBREVIATION [Orphanet:47045] xref: DOID:0090061 {source="MONDO:equivalentTo"} xref: MedDRA:10064570 {source="Orphanet:47045/e", source="Orphanet:47045"} xref: NCIT:C119053 {source="MONDO:equivalentTo"} xref: OMIMPS:120100 {source="MONDO:equivalentTo", source="DOID:0090061"} xref: Orphanet:47045 {source="MONDO:equivalentTo", source="DOID:0090061"} xref: UMLS:C0343068 {source="Orphanet:47045/e", source="MONDO:equivalentTo", source="Orphanet:47045", source="NCIT:C119053"} xref: UMLS:CN230757 {source="MONDO:equivalentTo"} is_a: MONDO:0016168 {source="Orphanet:47045"} ! cryopyrin-associated periodic syndrome property_value: closeMatch http://identifiers.org/meddra/10064570 property_value: exactMatch DOID:0090061 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343068 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN230757 property_value: exactMatch https://omim.org/phenotypicSeries/PS120100 property_value: exactMatch NCIT:C119053 property_value: exactMatch Orphanet:47045 [Term] id: MONDO:0018770 name: Jeune syndrome def: "Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including \"trident\" aspect of the acetabula and metaphyseal changes." [Orphanet:474] subset: ordo_malformation_syndrome {source="Orphanet:474"} synonym: "asphyxiating thoracic dystrophy" RELATED [DOID:0050592] synonym: "asphyxiating thoracic dystrophy of the newborn" EXACT [Orphanet:474] synonym: "ATD" RELATED ABBREVIATION [GARD:0003049] synonym: "Chondroectodermal dysplasia-like syndrome" RELATED [GARD:0003049] synonym: "infantile thoracic dystrophy" RELATED [GARD:0003049] synonym: "JATD" EXACT ABBREVIATION [Orphanet:474] synonym: "Jeune asphyxiating thoracic dystrophy" EXACT [Orphanet:474] synonym: "Jeune syndrome" EXACT [DOID:0050592] synonym: "Jeune's syndrome" RELATED [GARD:0003049] synonym: "short-rib thoracic dysplasia" EXACT [OMIMPS:208500] synonym: "short-rib thoracic dysplasia with or without polydactyly" EXACT [DOID:0050592] synonym: "thoracic pelvic phalangeal dystrophy" EXACT [DOID:0050592, PMID:6636109] xref: DOID:0050592 {source="MONDO:equivalentTo"} xref: MedDRA:10057621 {source="Orphanet:474/e", source="Orphanet:474"} xref: MESH:C537571 {source="Orphanet:474/e", source="MONDO:equivalentTo", source="Orphanet:474"} xref: NCIT:C84794 {source="MONDO:equivalentTo"} xref: OMIMPS:208500 {source="MONDO:equivalentTo", source="DOID:0050592"} xref: Orphanet:474 {source="MONDO:equivalentTo", source="DOID:0050592"} xref: SCTID:75049004 {source="MONDO:equivalentTo"} xref: UMLS:C0265275 {source="Orphanet:474/e", source="MONDO:equivalentTo", source="Orphanet:474", source="NCIT:C84794"} is_a: MONDO:0015461 {source="Orphanet:474"} ! short rib-polydactyly syndrome is_a: MONDO:0015962 {source="Orphanet:474"} ! inherited renal tubular disease is_a: MONDO:0022409 ! nephropathy-associated ciliopathy property_value: closeMatch http://identifiers.org/meddra/10057621 property_value: exactMatch DOID:0050592 property_value: exactMatch http://identifiers.org/mesh/C537571 property_value: exactMatch http://identifiers.org/snomedct/75049004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265275 property_value: exactMatch https://omim.org/phenotypicSeries/PS208500 property_value: exactMatch NCIT:C84794 property_value: exactMatch Orphanet:474 [Term] id: MONDO:0018771 name: congenital anomaly of ventricular septum def: "A congenital heart malformation that involves the interventricular septum." [MONDO:patterns/location] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:474347"} synonym: "congenital anomaly of interventricular communication" EXACT [Orphanet:474347] synonym: "congenital heart malformation of interventricular septum" EXACT [MONDO:design_pattern] synonym: "congenital ventricular septal anomaly" EXACT [Orphanet:474347] synonym: "interventricular septum congenital heart malformation" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "rare congenital anomaly of ventricular septum" RELATED [Orphanet:474347] xref: Orphanet:474347 {source="MONDO:equivalentTo"} is_a: EFO:0005269 {source="MONDO:Redundant", source="Orphanet:474347"} ! congenital heart malformation relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch Orphanet:474347 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0018772 name: Joubert syndrome def: "Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." [Orphanet:475] subset: ordo_disease {source="Orphanet:475"} synonym: "cerebellar vermis agenesis" RELATED [GARD:0006802] synonym: "cerebelloparenchymal disorder IV" EXACT [Orphanet:475] synonym: "classic Joubert syndrome" EXACT [Orphanet:475] synonym: "CPD IV" EXACT [Orphanet:475] synonym: "JBTS" EXACT ABBREVIATION [DOID:0050777] synonym: "Joubert syndrome" EXACT [] synonym: "Joubert syndrome type A" EXACT [Orphanet:475] synonym: "Joubert-Boltshauser syndrome" EXACT [Orphanet:475] synonym: "pure Joubert syndrome" EXACT [Orphanet:475] xref: DOID:0050777 {source="MONDO:equivalentTo"} xref: NCIT:C74996 {source="MONDO:equivalentTo"} xref: OMIMPS:213300 {source="DOID:0050777", source="MONDO:equivalentTo"} xref: Orphanet:475 {source="DOID:0050777", source="MONDO:equivalentTo"} xref: SCTID:716997004 {source="MONDO:equivalentTo"} is_a: EFO:0003900 {source="DOID:0050777", source="Wikipedia:Ciliopathy"} ! ciliopathy is_a: MONDO:0002254 {source="NCIT:C74996"} ! syndromic disease is_a: MONDO:0021147 {source="MONDO:Entailed", source="Orphanet:475", source="Orphanet:475/inferred"} ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch DOID:0050777 property_value: exactMatch http://identifiers.org/snomedct/716997004 property_value: exactMatch https://omim.org/phenotypicSeries/PS213300 property_value: exactMatch NCIT:C74996 property_value: exactMatch Orphanet:475 property_value: excluded_subClassOf MONDO:0020130 {source="Orphanet:475"} [Term] id: MONDO:0018775 name: axonal hereditary motor and sensory neuropathy comment: Reason: out of scope. MONDO:excludeGroupingClass. Term to consider:MONDO:0005244 peripheral neuropathy subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:476109"} synonym: "axonal HMSN" EXACT [Orphanet:476109] xref: Orphanet:476109 {source="MONDO:equivalentTo"} is_a: MONDO:0015358 {source="Orphanet:476109"} ! hereditary motor and sensory neuropathy is_a: MONDO:0015626 {source="Orphanet:476109"} ! Charcot-Marie-Tooth disease property_value: exactMatch Orphanet:476109 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2022-09-01" xsd:string [Term] id: MONDO:0018776 name: demyelinating hereditary motor and sensory neuropathy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:476116"} synonym: "demyelinating hereditary motor and sensory neuropathy" EXACT [] synonym: "demyelinating HMSN" EXACT [Orphanet:476116] xref: Orphanet:476116 {source="MONDO:equivalentTo"} is_a: MONDO:0015358 {source="Orphanet:476116"} ! hereditary motor and sensory neuropathy is_a: MONDO:0015626 {source="Orphanet:476116"} ! Charcot-Marie-Tooth disease property_value: exactMatch Orphanet:476116 [Term] id: MONDO:0018778 name: intermediate Charcot-Marie-Tooth disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:476123"} synonym: "Charcot-Marie-Tooth disease dominant intermediate" NARROW [DOID:0050543] synonym: "Charcot-Marie-Tooth disease intermediate type" EXACT [MONDO:0000350] synonym: "Charcot-Marie-Tooth disease recessive intermediate" NARROW [DOID:0050543] synonym: "Intermediate hereditary motor and sensory neuropathy" EXACT [Orphanet:476123] xref: DOID:0050543 {source="MONDO:equivalentTo"} xref: Orphanet:476123 {source="MONDO:equivalentTo"} xref: UMLS:CN776860 {source="MONDO:equivalentTo"} is_a: MONDO:0015626 {source="DOID:0050543", source="Orphanet:476123", source="https://orcid.org/0000-0001-5208-3432"} ! Charcot-Marie-Tooth disease property_value: exactMatch DOID:0050543 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776860 property_value: exactMatch Orphanet:476123 property_value: excluded_subClassOf MONDO:0015358 {source="Orphanet:476123"} [Term] id: MONDO:0018779 name: hypercontractile muscle stiffness syndrome comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:476403"} xref: Orphanet:476403 {source="MONDO:equivalentTo"} xref: UMLS:CN776841 {source="MONDO:equivalentTo"} is_a: MONDO:0020343 {source="Orphanet:476403"} ! alpha-crystallinopathy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776841 property_value: exactMatch Orphanet:476403 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0018781 name: KID syndrome def: "Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." [Orphanet:477] comment: Editor note: Orphanet classifies as both AD and AR subset: ordo_disease {source="Orphanet:477"} subset: ordo_inheritance_inconsistent synonym: "ichthyosis hystrix Rheydt type" EXACT [Orphanet:477] synonym: "keratitis, ichthyosis, and deafness (KID) syndrome" RELATED [GARD:0003113] synonym: "keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome" EXACT [Orphanet:477] synonym: "KID/HID syndrome" EXACT [Orphanet:477] synonym: "Senter syndrome" EXACT [Orphanet:477] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10048786 {source="Orphanet:477", source="Orphanet:477/e"} xref: MESH:C536168 {source="MONDO:equivalentTo"} xref: OMIMPS:148210 {source="MONDO:equivalentTo"} xref: Orphanet:477 {source="MONDO:equivalentTo"} xref: SCTID:2625009 {source="MONDO:equivalentTo"} xref: UMLS:C0265336 {source="Orphanet:477", source="MONDO:equivalentTo"} xref: UMLS:CN205136 {source="MONDO:equivalentTo"} is_a: MONDO:0017270 ! autosomal ichthyosis syndrome is_a: MONDO:0017666 {source="MONDO:0017669-obsoleted"} ! diffuse palmoplantar keratoderma is_a: MONDO:0019287 {source="Orphanet:477"} ! ectodermal dysplasia syndrome property_value: closeMatch http://identifiers.org/meddra/10048786 property_value: exactMatch http://identifiers.org/mesh/C536168 property_value: exactMatch http://identifiers.org/snomedct/2625009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265336 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205136 property_value: exactMatch https://omim.org/phenotypicSeries/PS148210 property_value: exactMatch Orphanet:477 [Term] id: MONDO:0018782 name: type 1 interferonopathy comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:477647"} xref: Orphanet:477647 {source="MONDO:equivalentTo"} is_a: MONDO:0019751 {source="Orphanet:477647"} ! autoinflammatory syndrome property_value: exactMatch Orphanet:477647 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0018786 name: pontine autosomal dominant microangiopathy with leukoencephalopathy def: "A rare genetic cerebral small vessel disease characterized by recurrent ischemic strokes, often with a predilection for the pons, with typical onset in the fourth or fifth decade of life. Patients present progressive cognitive and motor impairment with pyramidal, bulbar, and cerebellar symptoms, among others. Brain imaging shows multiple lacunar infarcts, typically with involvement of the pons, as well as variable leukoencephalopathy of the cerebral hemispheres." [Orphanet:477749] comment: Reason: duplicate. This will be merged with MONDO:0032814 Microangiopathy and leukoencephalopathy, pontine, autosomal dominant subset: obsoletion_candidate subset: ordo_disease {source="Orphanet:477749"} synonym: "PADMAL" EXACT ABBREVIATION [Orphanet:477749] xref: Orphanet:477749 {source="MONDO:equivalentTo"} is_a: EFO:0003763 {source="https://orcid.org/0000-0001-5208-3432"} ! cerebrovascular disorder property_value: exactMatch Orphanet:477749 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6368 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0018788 name: COL4A1 or COL4A2-related cerebral small vessel disease comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:477759"} synonym: "COL4A1 or COL4A2-related cerebral angiopathy" EXACT [Orphanet:477759] xref: Orphanet:477759 {source="MONDO:equivalentTo"} xref: UMLS:CN776854 {source="MONDO:equivalentTo"} is_a: EFO:0003763 {source="https://orcid.org/0000-0001-5208-3432"} ! cerebrovascular disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776854 property_value: exactMatch Orphanet:477759 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0018791 name: Moyomoya angiopathy def: "A rare cerebral vasculopathy characterized by a progressive stenosis of the terminal portion of the internal carotid arteries and the development of abnormal collateral vessels." [PMID:32089044] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: mondo_rare {source="PMID:32089044"} subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:477768"} xref: Orphanet:477768 {source="MONDO:equivalentTo"} is_a: EFO:0003763 {source="PMID:32089044"} ! cerebrovascular disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0019110", source="PMID:32089044"} ! rare property_value: exactMatch Orphanet:477768 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0018794 name: cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder subset: ordo_disease {source="Orphanet:477787"} synonym: "cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder" EXACT [] synonym: "GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS" RELATED [OMIM:618372] synonym: "GURDP" RELATED ABBREVIATION [OMIM:618372] synonym: "Phospholipase A2, Group Iva, Deficiency of" RELATED [OMIM:618372] synonym: "PLA2G4A-related platelet dysfunction" EXACT [Orphanet:477787] synonym: "platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency" EXACT [Orphanet:477787] xref: OMIM:618372 {source="MONDO:equivalentTo"} xref: Orphanet:477787 {source="MONDO:equivalentTo", source="OMIM:618372"} xref: UMLS:CN776897 {source="MONDO:equivalentTo"} is_a: EFO:0009431 {source="Orphanet:477787"} ! intestinal disease is_a: MONDO:0000009 {source="MONDO:0017142-obsoleted"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0021181 {source="MONDO:0017142-obsoleted"} ! inherited blood coagulation disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776897 property_value: exactMatch https://omim.org/entry/618372 property_value: exactMatch Orphanet:477787 [Term] id: MONDO:0018795 name: syndromic constitutional thrombocytopenia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:477794"} synonym: "syndromic constitutional thrombocytopenia" EXACT [Orphanet:477794] xref: Orphanet:477794 {source="MONDO:equivalentTo"} xref: UMLS:CN776900 {source="MONDO:equivalentTo"} is_a: MONDO:0100241 {source="MONDO:cjm"} ! inherited thrombocytopenia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776900 property_value: exactMatch Orphanet:477794 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5518 xsd:anyURI [Term] id: MONDO:0018796 name: isolated constitutional thrombocytopenia comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:477797"} synonym: "Cconstitutional thrombocytopenia without extra-hematopoietic manifestation" EXACT [Orphanet:477797] synonym: "non-syndromic constitutional thrombocytopenia" EXACT [Orphanet:477797] xref: Orphanet:477797 {source="MONDO:equivalentTo"} is_a: MONDO:0100241 {source="MONDO:cjm"} ! inherited thrombocytopenia property_value: exactMatch Orphanet:477797 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0018800 name: Kallmann syndrome def: "Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)." [Orphanet:478] subset: ordo_disease {source="Orphanet:478"} synonym: "congenital hypogonadotropic hypogonadism with anosmia" EXACT [Orphanet:478] synonym: "familial hypogonadism with anosmia" EXACT [DOID:3614] synonym: "hypogonadism with anosmia" EXACT [DOID:3614] synonym: "hypogonadotropic hypogonadism with anosmia" EXACT [NCIT:C75479] synonym: "Kallman syndrome" EXACT [DOID:3614] synonym: "Kallman's syndrome" EXACT [DOID:3614] synonym: "Olfacto-genital pathological sequence" EXACT [Orphanet:478] xref: DOID:3614 {source="MONDO:equivalentTo"} xref: ICD10CM:E23.0 {source="Orphanet:478", source="MONDO:relatedTo", source="Orphanet:478/ntbt", source="DOID:3614", source="Orphanet:478/inclusion"} xref: ICD9:253.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10053142 {source="Orphanet:478", source="Orphanet:478/e"} xref: MESH:D017436 {source="Orphanet:478", source="MONDO:equivalentTo", source="Orphanet:478/e", source="DOID:3614"} xref: NCIT:C75479 {source="MONDO:equivalentTo", source="DOID:3614"} xref: Orphanet:478 {source="MONDO:equivalentTo", source="DOID:3614"} xref: SCTID:93559003 {source="MONDO:equivalentTo", source="DOID:3614"} xref: UMLS:C0162809 {source="Orphanet:478", source="MONDO:equivalentTo", source="Orphanet:478/e", source="DOID:3614", source="NCIT:C75479"} is_a: MONDO:0002254 {source="NCIT:C75479"} ! syndromic disease is_a: MONDO:0018555 {source="DOID:3614", source="NCIT:C75479"} ! hypogonadotropic hypogonadism property_value: closeMatch http://identifiers.org/meddra/10053142 property_value: exactMatch DOID:3614 property_value: exactMatch http://identifiers.org/mesh/D017436 property_value: exactMatch http://identifiers.org/snomedct/93559003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162809 property_value: exactMatch NCIT:C75479 property_value: exactMatch Orphanet:478 [Term] id: MONDO:0018801 name: congenital bilateral absence of vas deferens def: "Congenital bilateral absence of the vas deferens (CBAVD) is a condition leading to male infertility." [Orphanet:48] subset: ordo_morphological_anomaly {source="Orphanet:48"} synonym: "congenital bilateral agenesis of vas deferens" EXACT [Orphanet:48] synonym: "congenital bilateral aplasia of vas deferens" EXACT [Orphanet:48] xref: DOID:0111862 {source="MONDO:equivalentTo"} xref: ICD9:752.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10010670 {source="Orphanet:48", source="Orphanet:48/e"} xref: OMIMPS:277180 {source="MONDO:equivalentTo"} xref: Orphanet:48 {source="MONDO:equivalentTo"} xref: SCTID:275416002 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0015933 {source="Orphanet:48"} ! non-syndromic urogenital tract malformation of male relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: closeMatch http://identifiers.org/meddra/10010670 property_value: exactMatch DOID:0111862 property_value: exactMatch http://identifiers.org/snomedct/275416002 property_value: exactMatch https://omim.org/phenotypicSeries/PS277180 property_value: exactMatch Orphanet:48 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0018812 name: MSH3-related attenuated familial adenomatous polyposis subset: ordo_clinical_subtype {source="Orphanet:480536"} synonym: "MSH3-related AFAP" EXACT [Orphanet:480536] synonym: "MSH3-related attenuated familial adenomatous polyposis" EXACT [] synonym: "MSH3-related attenuated familial polyposis coli" EXACT [Orphanet:480536] synonym: "MSH3-related attenuated FAP" EXACT [Orphanet:480536] xref: Orphanet:480536 {source="MONDO:equivalentTo"} xref: UMLS:CN776886 {source="MONDO:equivalentTo"} is_a: MONDO:0016362 {source="Orphanet:480536"} ! attenuated familial adenomatous polyposis property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776886 property_value: exactMatch Orphanet:480536 [Term] id: MONDO:0018814 name: non-SCID combined immunodeficiency subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:480549"} synonym: "non-SCID" EXACT [Orphanet:480549] synonym: "non-severe combined immunodeficiency" EXACT [Orphanet:480549] xref: Orphanet:480549 {source="MONDO:equivalentTo"} is_a: MONDO:0015131 {source="Orphanet:480549"} ! combined immunodeficiency property_value: exactMatch Orphanet:480549 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/108 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/711 xsd:anyURI [Term] id: MONDO:0018820 name: recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome def: "Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy." [Orphanet:480864] subset: ordo_disease {source="Orphanet:480864"} synonym: "MECRCN" EXACT ABBREVIATION [OMIM:616878] synonym: "metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration" EXACT [OMIM:616878] synonym: "TANGO2 deficiency" EXACT [PMID:31339582] synonym: "transport and golgi organisation protein 2 (TANGO2) deficiency" EXACT OMO:0003005 [] synonym: "transport and golgi organization protein 2 (TANGO2) deficiency" EXACT [PMID:31339582] xref: OMIM:616878 {source="MONDO:equivalentTo"} xref: Orphanet:480864 {source="MONDO:equivalentTo"} xref: UMLS:C4225171 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:CN776869 {source="MONDO:equivalentTo"} is_a: MONDO:0024237 {source="Orphanet:480864"} ! inherited neurodegenerative disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225171 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776869 property_value: exactMatch https://omim.org/entry/616878 property_value: exactMatch Orphanet:480864 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:480864"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13423/tango2-related-metabolic-encephalopathy-and-arrhythmias xsd:anyURI {xref="GARD:0013423"} [Term] id: MONDO:0018827 name: familial chilblain lupus def: "An instance of Chilblain lupus that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: ordo_disease {source="Orphanet:481662"} synonym: "hereditary Chilblain lupus" EXACT [MONDO:patterns/hereditary] synonym: "hereditary chilblain lupus" EXACT [MONDO:patterns/hereditary] xref: OMIMPS:610448 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:481662 {source="MONDO:equivalentTo"} xref: UMLS:CN776917 {source="MONDO:equivalentTo"} is_a: MONDO:0018782 {source="Orphanet:481662"} ! type 1 interferonopathy is_a: MONDO:0019557 ! chilblain lupus is_a: MONDO:0023603 ! hereditary disorder of connective tissue is_a: MONDO:0100118 ! hereditary skin disorder intersection_of: MONDO:0019557 ! chilblain lupus intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776917 property_value: exactMatch https://omim.org/phenotypicSeries/PS610448 property_value: exactMatch Orphanet:481662 property_value: excluded_subClassOf MONDO:0019293 {source="MONDO:Redundant", source="Orphanet:481662"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5682 xsd:anyURI [Term] id: MONDO:0018829 name: familial schizencephaly def: "An instance of schizencephaly that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: ordo_etiological_subtype {source="Orphanet:481986"} synonym: "familial schizencephaly" EXACT [GARD:0000166] synonym: "hereditary schizencephaly" EXACT [MONDO:patterns/hereditary] xref: MESH:C538514 {source="MONDO:equivalentTo"} xref: Orphanet:481986 {source="MONDO:equivalentTo"} xref: UMLS:C2931870 {source="MONDO:equivalentTo"} xref: UMLS:CN776926 {source="MONDO:equivalentTo"} is_a: MONDO:0010011 {source="MONDO:Redundant", source="Orphanet:481986"} ! schizencephaly is_a: MONDO:0018788 ! COL4A1 or COL4A2-related cerebral small vessel disease is_a: MONDO:0957008 ! hereditary cerebral malformation intersection_of: MONDO:0010011 ! schizencephaly intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/mesh/C538514 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931870 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776926 property_value: exactMatch Orphanet:481986 [Term] id: MONDO:0018831 name: HTRA1-related cerebral small vessel disease comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:482072"} synonym: "HTRA1-related cerebral angiopathy" EXACT [Orphanet:482072] xref: Orphanet:482072 {source="MONDO:equivalentTo"} xref: UMLS:CN776824 {source="MONDO:equivalentTo"} is_a: EFO:0003763 {source="https://orcid.org/0000-0001-5208-3432"} ! cerebrovascular disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776824 property_value: exactMatch Orphanet:482072 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0018837 name: postinfectious vasculitis def: "Vasculitis, characterized by inflammatory lesions in the wall of vessels, may be due to different viruses." [Orphanet:48435] subset: ordo_disease {source="Orphanet:48435"} xref: Orphanet:48435 {source="MONDO:equivalentTo"} xref: SCTID:724063005 {source="MONDO:equivalentTo"} xref: UMLS:C4510302 {source="MONDO:equivalentTo"} is_a: MONDO:0018640 {source="Orphanet:48435"} ! secondary vasculitis is_a: MONDO:0021669 ! post-infectious disorder intersection_of: EFO:0006803 ! vasculitis intersection_of: disease_arises_from_feature EFO:0005741 ! infectious disease property_value: exactMatch http://identifiers.org/snomedct/724063005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510302 property_value: exactMatch Orphanet:48435 [Term] id: MONDO:0018838 name: lissencephaly spectrum disorders def: "The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterized by simplification or absence of folding) associated with abnormal organization of the cortical layers as a result of neuronal migration defects during embryogenesis." [Orphanet:48471] comment: Lissencephaly is a spectrum of gyral abnormalities. Lissencephaly, pchygyria and subcortical band heterotopia are known to be caused by the same genes. The distinction between these radiographic terms is not clear cut. The clinical consequences for these radiographic abnormalities is also often overlapping. {xref="PMID:28440899", xref="PMID:20331703"} subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:48471"} synonym: "Broad gyri of cerebrum" RELATED [GARD:0007300] synonym: "large gyri of cerebrum" RELATED [GARD:0007300] synonym: "lissencephaly" EXACT [MONDO:ambiguous] synonym: "lissencephaly (disease)" EXACT [https://github.com/monarch-initiative/mondo/issues/1312] synonym: "lissencephaly spectrum disorders" EXACT [] synonym: "macrogyria" RELATED [GARD:0007300] synonym: "pachygyria" RELATED [GARD:0007300] xref: DOID:0050453 {source="MONDO:equivalentTo"} xref: HP:0001339 {source="MONDO:otherHierarchy"} xref: MedDRA:10048911 {source="Orphanet:48471", source="Orphanet:48471/e"} xref: MESH:D054082 {source="DOID:0050453", source="MONDO:equivalentTo", source="Orphanet:48471", source="Orphanet:48471/e"} xref: NCIT:C103921 {source="DOID:0050453", source="MONDO:equivalentTo"} xref: OMIMPS:607432 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:48471 {source="MONDO:equivalentTo"} xref: SCTID:204036008 {source="DOID:0050453", source="MONDO:equivalentTo"} xref: UMLS:C0266463 {source="DOID:0050453", source="MONDO:equivalentTo", source="Orphanet:48471", source="NCIT:C103921", source="Orphanet:48471/e"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0002320 {source="DOID:0050453", source="MONDO:indirect"} ! congenital nervous system disorder is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:48471", source="Orphanet:48471/inferred"} ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960", source="MONDO:0015983"} ! rare property_value: closeMatch http://identifiers.org/meddra/10048911 property_value: exactMatch DOID:0050453 property_value: exactMatch http://identifiers.org/mesh/D054082 property_value: exactMatch http://identifiers.org/snomedct/204036008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266463 property_value: exactMatch https://omim.org/phenotypicSeries/PS607432 property_value: exactMatch NCIT:C103921 property_value: exactMatch Orphanet:48471 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:48471"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1312 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0018839 name: acquired schizencephaly def: "An instance of schizencephaly that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] subset: ordo_etiological_subtype {source="Orphanet:485275"} synonym: "acquired schizencephaly" EXACT [MONDO:patterns/acquired] xref: Orphanet:485275 {source="MONDO:equivalentTo"} xref: UMLS:CN776925 {source="MONDO:equivalentTo"} is_a: MONDO:0010011 {source="MONDO:Redundant", source="Orphanet:485275"} ! schizencephaly intersection_of: MONDO:0010011 ! schizencephaly intersection_of: has_characteristic MONDO:0021141 ! acquired relationship: has_characteristic MONDO:0021141 ! acquired property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776925 property_value: exactMatch Orphanet:485275 [Term] id: MONDO:0018843 name: embryonal carcinoma of the central nervous system def: "A embryonal carcinoma that involves the central nervous system." [MONDO:patterns/location] subset: ordo_clinical_subtype {source="Orphanet:48736"} synonym: "central nervous system embryonal carcinoma" EXACT [MONDO:0004154, MONDO:patterns/location, NCIT:C7010] synonym: "embryonal carcinoma" RELATED [ONCOTREE:BEC] synonym: "embryonal carcinoma of CNS" EXACT [DOID:7232, NCIT:C7010] synonym: "embryonal carcinoma of the central nervous system" EXACT [DOID:7232, NCIT:C7010] synonym: "embryonal carcinoma of the CNS" EXACT [Orphanet:48736] xref: DOID:7232 {source="MONDO:equivalentTo"} xref: NCIT:C7010 {source="MONDO:equivalentTo", source="DOID:7232"} xref: ONCOTREE:BEC {source="MONDO:equivalentTo"} xref: Orphanet:48736 {source="MONDO:equivalentTo"} xref: UMLS:C1333377 {source="NCIT:C7010", source="MONDO:equivalentTo", source="DOID:7232"} is_a: EFO:0000326 {source="DOID:7232/inferred", source="MONDO:Redundant", source="NCIT:C7010/inferred"} ! central nervous system cancer is_a: EFO:0004986 {source="DOID:7232", source="MONDO:Redundant", source="NCIT:C7010/inferred", source="Orphanet:48736"} ! embryonal carcinoma is_a: MONDO:0016738 {source="Orphanet:48736"} ! primary germ cell tumor of central nervous system is_a: MONDO:0020574 ! central nervous system nongerminomatous germ cell tumor property_value: exactMatch DOID:7232 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333377 property_value: exactMatch NCIT:C7010 property_value: exactMatch Orphanet:48736 [Term] id: MONDO:0018844 name: urachal cyst def: "Urachal cyst is a congenital urachal anomaly characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever." [Orphanet:488] subset: ordo_morphological_anomaly {source="Orphanet:488"} synonym: "urachal cyst" EXACT [MONDO:ambiguous] synonym: "urachal cyst (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0012618 {source="MONDO:otherHierarchy"} xref: MedDRA:10065375 {source="Orphanet:488", source="Orphanet:488/e"} xref: MESH:D014496 {source="Orphanet:488", source="MONDO:equivalentTo", source="Orphanet:488/e"} xref: NCIT:C85216 {source="MONDO:equivalentTo"} xref: Orphanet:488 {source="MONDO:equivalentTo"} xref: SCTID:17234001 {source="MONDO:equivalentTo"} is_a: MONDO:0018565 {source="Orphanet:488"} ! congenital urachal anomaly property_value: closeMatch http://identifiers.org/meddra/10065375 property_value: exactMatch http://identifiers.org/mesh/D014496 property_value: exactMatch http://identifiers.org/snomedct/17234001 property_value: exactMatch NCIT:C85216 property_value: exactMatch Orphanet:488 property_value: IAO:0000589 "urachal cyst (disease)" xsd:string [Term] id: MONDO:0018848 name: IgG4-related retroperitoneal fibrosis def: "Retroperitoneal fibrosis (RPF) is characterized by the development of a fibrotic mass surrounding retroperitoneal structures, such as aorta, vena cava, ureters and psoas muscle." [Orphanet:49041] comment: Editor note: TODO consider splitting out RF as separate term subset: ordo_disease {source="Orphanet:49041"} synonym: "idiopathic retroperitoneal fibrosis" EXACT [Orphanet:49041] synonym: "Ormond disease" EXACT [Orphanet:49041] synonym: "Ormond's disease" RELATED [GARD:0009568] synonym: "retroperitoneal fibrosis" EXACT [GARD:0009568, NCIT:C26876] xref: ICD9:593.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10038979 {source="Orphanet:49041", source="Orphanet:49041/e"} xref: MESH:D012185 {source="Orphanet:49041", source="MONDO:equivalentTo", source="Orphanet:49041/e"} xref: NCIT:C26876 {source="MONDO:equivalentTo"} xref: Orphanet:49041 {source="MONDO:equivalentTo"} xref: SCTID:197808006 {source="MONDO:equivalentTo"} is_a: MONDO:0017287 {source="Orphanet:49041"} ! IgG4-related disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015621"} ! rare property_value: closeMatch http://identifiers.org/meddra/10038979 property_value: exactMatch http://identifiers.org/mesh/D012185 property_value: exactMatch http://identifiers.org/snomedct/197808006 property_value: exactMatch NCIT:C26876 property_value: exactMatch Orphanet:49041 [Term] id: MONDO:0018849 name: dentinogenesis imperfecta def: "Dentinogenesis imperfecta (DGI) is a hereditary dentin defect characterized by abnormal dentin structure resulting in abnormal tooth development." [Orphanet:49042] subset: ordo_disease {source="Orphanet:49042"} synonym: "dentinogenesis imperfecta" EXACT [MONDO:0002895, MONDO:ambiguous] synonym: "dentinogenesis imperfecta (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "dentinogenesis imperfecta without osteogenesis imperfecta" EXACT [Orphanet:49042] synonym: "DGI" EXACT ABBREVIATION [Orphanet:49042] synonym: "DGI without OI" EXACT [Orphanet:49042] synonym: "DI" EXACT ABBREVIATION [Orphanet:49042] synonym: "non-syndromic dentinogenesis imperfecta" EXACT [Orphanet:49042] synonym: "non-syndromic DGI" EXACT [Orphanet:49042] synonym: "opalescent teeth without OI" EXACT [Orphanet:49042] synonym: "opalescent teeth without osteogenesis imperfecta" EXACT [Orphanet:49042] xref: DOID:4154 {source="MONDO:equivalentTo"} xref: HP:0000703 {source="MONDO:otherHierarchy"} xref: ICD9:520.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10054013 {source="Orphanet:49042", source="Orphanet:49042/e"} xref: MESH:D003811 {source="Orphanet:49042", source="MONDO:equivalentTo", source="Orphanet:49042/e", source="DOID:4154"} xref: NCIT:C84667 {source="MONDO:equivalentTo", source="DOID:4154"} xref: Orphanet:49042 {source="MONDO:equivalentTo"} xref: SCTID:196286005 {source="MONDO:equivalentTo", source="DOID:4154"} xref: UMLS:C0011436 {source="NCIT:C84667", source="Orphanet:49042", source="MONDO:equivalentTo", source="Orphanet:49042/e", source="DOID:4154"} is_a: MONDO:0015668 {source="Orphanet:49042"} ! hereditary dentin defect property_value: closeMatch http://identifiers.org/meddra/10054013 property_value: exactMatch DOID:4154 property_value: exactMatch http://identifiers.org/mesh/D003811 property_value: exactMatch http://identifiers.org/snomedct/196286005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011436 property_value: exactMatch NCIT:C84667 property_value: exactMatch Orphanet:49042 property_value: IAO:0000589 "dentinogenesis imperfecta (disease)" xsd:string [Term] id: MONDO:0018851 name: familial keratoacanthoma def: "Multiple familial keratoacanthoma (KA) of Witten and Zak is a rare a rare inherited skin cancer syndrome and is characterized by the coexistence of features characteristic of both multiple KA, Ferguson Smith type and generalized eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant." [Orphanet:493] comment: Editor note: consider adding subtypes subset: ordo_disease {source="Orphanet:493"} synonym: "hereditary keratoacanthoma" EXACT [MONDO:patterns/hereditary, Orphanet:493] synonym: "multiple keratoacanthoma" EXACT [Orphanet:493] xref: Orphanet:493 {source="MONDO:equivalentTo"} xref: SCTID:716774008 {source="MONDO:equivalentTo"} xref: UMLS:CN227546 {source="MONDO:equivalentTo"} is_a: MONDO:0002527 {source="MONDO:Redundant"} ! keratoacanthoma is_a: MONDO:0015950 {source="Orphanet:493"} ! inherited skin tumor intersection_of: MONDO:0002527 ! keratoacanthoma intersection_of: has_characteristic MONDO:0021152 ! inherited relationship: disease_has_feature MONDO:0020173 {source="Orphanet:493"} ! benign tumor of palpebral epidermis property_value: exactMatch http://identifiers.org/snomedct/716774008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227546 property_value: exactMatch Orphanet:493 property_value: excluded_subClassOf MONDO:0019300 {source="Orphanet:493"} [Term] id: MONDO:0018852 name: achromatopsia def: "Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function." [Orphanet:49382] comment: Editor note: we include incomplete forms here, such as BCM subset: clingen subset: ordo_disease {source="Orphanet:49382"} synonym: "ACHM" EXACT ABBREVIATION [DOID:13911, Orphanet:49382] synonym: "achromatopsia" EXACT [] synonym: "complete or incomplete color blindness" EXACT [Orphanet:49382] synonym: "complete or incomplete colour blindness" EXACT OMO:0003005 [] synonym: "monochromatism" EXACT [DOID:13911] synonym: "Pingelapese blindness" EXACT [Orphanet:49382] synonym: "Rod monochromacy" EXACT [Orphanet:49382] synonym: "Rod monochromatism" EXACT [Orphanet:49382] synonym: "total color blindness" EXACT [Orphanet:49382] synonym: "total colour blindness" EXACT OMO:0003005 [] xref: DOID:13911 {source="MONDO:equivalentTo"} xref: ICD10CM:H53.51 {source="DOID:13911", source="MONDO:equivalentTo"} xref: ICD9:368.54 {source="DOID:13911"} xref: MedDRA:10000454 {source="Orphanet:49382", source="Orphanet:49382/e"} xref: NCIT:C84528 {source="DOID:13911", source="MONDO:equivalentTo"} xref: Orphanet:49382 {source="DOID:13911", source="MONDO:equivalentTo"} xref: SCTID:102450007 {source="MONDO:equivalentTo"} xref: UMLS:C0152200 {source="DOID:13911", source="NCIT:C84528", source="Orphanet:49382", source="MONDO:equivalentTo", source="Orphanet:49382/e"} is_a: EFO:0003839 {source="https://orcid.org/0000-0001-5208-3432"} ! retinopathy is_a: MONDO:0001703 {source="DOID:13911", source="Orphanet:49382"} ! color vision disorder relationship: disease_has_feature MONDO:0001020 {source="MONDO:Wikidata"} ! amblyopia property_value: closeMatch http://identifiers.org/meddra/10000454 property_value: exactMatch DOID:13911 property_value: exactMatch http://identifiers.org/snomedct/102450007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152200 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H53.51 property_value: exactMatch NCIT:C84528 property_value: exactMatch Orphanet:49382 [Term] id: MONDO:0018853 name: transgrediens et progrediens palmoplantar keratoderma subset: ordo_disease {source="Orphanet:495"} synonym: "Greither disease" EXACT [Orphanet:495] synonym: "keratosis extremitatum hereditaria progrediens" EXACT [Orphanet:495] synonym: "keratosis palmoplantaris transgrediens et progrediens" EXACT [Orphanet:495] synonym: "progressive diffuse palmoplantar keratoderma" EXACT [Orphanet:495] synonym: "progressive diffuse PPK" EXACT [Orphanet:495] synonym: "transgrediens et progrediens PPK" EXACT [Orphanet:495] xref: Orphanet:495 {source="MONDO:equivalentTo"} xref: UMLS:CN205162 {source="MONDO:equivalentTo"} is_a: MONDO:0017851 ! erythrokeratodermia variabilis is_a: MONDO:0020093 {source="Orphanet:495"} ! autosomal dominant isolated diffuse palmoplantar keratoderma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205162 property_value: exactMatch Orphanet:495 [Term] id: MONDO:0018855 name: keratosis pilaris atrophicans def: "An uncommon form of keratosis pilaris in which there are scar-like follicular depressions and loss of hair." [https://www.dermnetnz.org/topics/keratosis-pilaris/] subset: disease_grouping subset: gard_rare subset: ordo_group_of_disorders {source="Orphanet:498"} synonym: "amelogenesis imperfecta, hypoplastic-hypomaturation, X-linked 2" RELATED [MESH:C537412] synonym: "Atrophodermia reticulata" RELATED [MESH:C537412] synonym: "Atrophodermia reticulata symmetrica faciei" RELATED [MESH:C537412] synonym: "Atrophodermia vermiculata" RELATED [MESH:C537412] synonym: "burnett Schwartz Berberian syndrome" RELATED [MESH:C537412] synonym: "folliculitis ulerythematosa" RELATED [MESH:C537412] synonym: "folliculitis ulerythematosa reticulata" RELATED [MESH:C537412] synonym: "honeycomb atrophy" RELATED [MESH:C537412] synonym: "keratosis pilaris" RELATED [GARD:0001042, MESH:C537412, OMIM:604093] synonym: "keratosis pilaris atrophicans" EXACT [OMIM:604093] synonym: "keratosis pilaris atrophicans facies" RELATED [GARD:0001042, MESH:C537412] synonym: "KPA" RELATED ABBREVIATION [OMIM:604093] synonym: "ulerythema ophryogenes" RELATED [GARD:0001042, MESH:C537412] synonym: "ulerythema ophryogenes with multiple congenital anomalies" RELATED [GARD:0001042, MESH:C537412] synonym: "ulerythema ophryogenesis" RELATED [MESH:C537412] xref: DOID:0080751 {source="MONDO:equivalentTo"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537412 {source="MONDO:equivalentTo"} xref: OMIM:604093 {source="MONDO:equivalentTo", source="GARD:0001042"} xref: Orphanet:498 {source="MONDO:equivalentTo"} xref: SCTID:400059005 {source="MONDO:equivalentTo"} is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease is_a: MONDO:0021036 {source="MONDO:cjm"} ! keratosis pilaris property_value: exactMatch DOID:0080751 property_value: exactMatch http://identifiers.org/mesh/C537412 property_value: exactMatch http://identifiers.org/snomedct/400059005 property_value: exactMatch https://omim.org/entry/604093 property_value: exactMatch Orphanet:498 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1042/burnett-schwartz-berberian-syndrome xsd:anyURI {source="GARD:0001042"} [Term] id: MONDO:0018858 name: Graham Little-Piccardi-Lassueur syndrome def: "Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin." [Orphanet:505] subset: gard_rare {source="GARD:0003195"} subset: ordo_disease {source="Orphanet:505"} synonym: "Graham Little syndrome" EXACT [Orphanet:505] synonym: "Graham-Little-Piccardi-Lassueur syndrome" RELATED [GARD:0003195] synonym: "Piccardi-Lassueur-Little syndrome" EXACT [Orphanet:505] xref: ICD10CM:L66.1 {source="Orphanet:505", source="MONDO:directSiblingOf", source="Orphanet:505/attributed", source="Orphanet:505/ntbt"} xref: Orphanet:505 {source="MONDO:equivalentTo"} xref: SCTID:718215008 {source="MONDO:equivalentTo"} xref: UMLS:C0023645 {source="GARD:0003195", source="MONDO:directSiblingOf"} xref: UMLS:CN205176 {source="MONDO:equivalentTo"} is_a: MONDO:0004907 {source="Orphanet:505"} ! alopecia property_value: exactMatch http://identifiers.org/snomedct/718215008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205176 property_value: exactMatch Orphanet:505 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3195/graham-little-piccardi-lassueur-syndrome xsd:anyURI {source="GARD:0003195"} [Term] id: MONDO:0018860 name: microlissencephaly-micromelia syndrome def: "Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case." [Orphanet:50810] subset: ordo_malformation_syndrome {source="Orphanet:50810"} synonym: "Basel-Vanagaite-Sirota syndrome" EXACT [Orphanet:50810] xref: Orphanet:50810 {source="MONDO:equivalentTo"} xref: UMLS:CN205181 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205181 property_value: exactMatch Orphanet:50810 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:50810"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0018861 name: Zellweger-like syndrome without peroxisomal anomalies def: "An extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive." [Orphanet:50812] subset: ordo_disease {source="Orphanet:50812"} synonym: "AHN-Lerman-Sagie syndrome" EXACT [Orphanet:50812] xref: Orphanet:50812 {source="MONDO:equivalentTo"} xref: SCTID:718880003 {source="MONDO:equivalentTo"} xref: UMLS:C4305104 {source="MONDO:equivalentTo"} xref: UMLS:CN205183 {source="MONDO:equivalentTo"} is_a: MONDO:0016387 {source="Orphanet:50812", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial oxidative phosphorylation disorder relationship: disease_shares_features_of MONDO:0019609 ! Zellweger spectrum disorders property_value: exactMatch http://identifiers.org/snomedct/718880003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305104 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205183 property_value: exactMatch Orphanet:50812 [Term] id: MONDO:0018865 name: striate palmoplantar keratoderma def: "Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed." [Orphanet:50942] subset: ordo_disease {source="Orphanet:50942"} synonym: "keratosis palmoplantaris striata" EXACT [Orphanet:50942] synonym: "keratosis palmoplantaris striata et areata" EXACT [Orphanet:50942] synonym: "keratosis palmoplantaris varians of Wachters" EXACT [Orphanet:50942] xref: DOID:0081105 {source="MONDO:equivalentTo"} xref: Orphanet:50942 {source="MONDO:equivalentTo"} xref: SCTID:764958008 {source="MONDO:equivalentTo"} xref: UMLS:CN205191 {source="MONDO:equivalentTo"} is_a: MONDO:0017673 {source="Orphanet:50942"} ! isolated focal palmoplantar keratoderma property_value: exactMatch DOID:0081105 property_value: exactMatch http://identifiers.org/snomedct/764958008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205191 property_value: exactMatch Orphanet:50942 [Term] id: MONDO:0018866 name: Aicardi-Goutieres syndrome def: "Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterized by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis." [Orphanet:51] subset: clingen subset: gard_rare subset: ordo_disease {source="Orphanet:51"} synonym: "AGS" RELATED ABBREVIATION [GARD:0000575] synonym: "Aicardi Goutieres syndrome" EXACT [GARD:0000575] synonym: "Aicardi-Goutières syndrome" RELATED [Orphanet:51] synonym: "Cree encephalitis" EXACT [DOID:0050629, GARD:0000575] synonym: "encephalopathy with basal ganglia calcification" EXACT [Orphanet:51] synonym: "encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid" EXACT [GARD:0000575, Orphanet:51] synonym: "encephalopathy, familial infantile, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis" RELATED [GARD:0000575] synonym: "pseudotoxoplasmosis syndrome" RELATED [GARD:0000575] xref: DOID:0050629 {source="MONDO:equivalentTo"} xref: ICD9:333.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535607 {source="Orphanet:51/e", source="MONDO:equivalentTo", source="Orphanet:51"} xref: OMIMPS:225750 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:51 {source="GARD:0000575", source="MONDO:equivalentTo", source="DOID:0050629"} xref: SCTID:230312006 {source="MONDO:equivalentTo"} is_a: EFO:1000017 {source="DOID:0050629", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015135 ! primary immunodeficiency due to a genetic defect in innate immunity is_a: MONDO:0018782 {source="Orphanet:51"} ! type 1 interferonopathy is_a: MONDO:0019046 {source="Orphanet:51", source="https://rarediseases.org/rare-diseases/leukodystrophy/"} ! leukodystrophy is_a: MONDO:0023603 ! hereditary disorder of connective tissue property_value: exactMatch DOID:0050629 property_value: exactMatch http://identifiers.org/mesh/C535607 property_value: exactMatch http://identifiers.org/snomedct/230312006 property_value: exactMatch https://omim.org/phenotypicSeries/PS225750 property_value: exactMatch Orphanet:51 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:51"} property_value: excluded_subClassOf MONDO:0018792 {source="Orphanet:51"} [Term] id: MONDO:0018868 name: metachromatic leukodystrophy def: "A rare lysosomal storage disorder characterized by intralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function." [Orphanet:512] subset: ordo_disease {source="Orphanet:512"} synonym: "arylsulfatase A deficiency" EXACT [DOID:10581, Orphanet:512] synonym: "deficiency of cerebroside-sulfatase" EXACT [DOID:10581] synonym: "MLD" EXACT ABBREVIATION [DOID:10581, Orphanet:512] synonym: "Scholz cerebral sclerosis" EXACT [DOID:10581] synonym: "sulfatide lipoidosis" EXACT [DOID:10581] xref: DOID:10581 {source="MONDO:equivalentTo"} xref: MedDRA:10067609 {source="Orphanet:512", source="Orphanet:512/e"} xref: MESH:D007966 {source="Orphanet:512", source="MONDO:equivalentTo", source="Orphanet:512/e", source="DOID:10581"} xref: NCIT:C61251 {source="MONDO:equivalentTo", source="DOID:10581"} xref: Orphanet:512 {source="MONDO:equivalentTo", source="DOID:10581"} xref: SCTID:66521008 {source="MONDO:equivalentTo"} xref: UMLS:C0023522 {source="Orphanet:512", source="MONDO:equivalentTo", source="NCIT:C61251", source="Orphanet:512/e", source="DOID:10581"} is_a: MONDO:0015547 ! hereditary dementia is_a: MONDO:0019046 {source="NCIT:C61251", source="Orphanet:512", source="https://rarediseases.org/rare-diseases/leukodystrophy/"} ! leukodystrophy is_a: MONDO:0019255 {source="DOID:10581", source="MESH:D007966/inferred", source="MONDO:0018299-obsoleted", source="NCIT:C61251", source="Orphanet:512"} ! sphingolipidosis is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy property_value: closeMatch http://identifiers.org/meddra/10067609 property_value: exactMatch DOID:10581 property_value: exactMatch http://identifiers.org/mesh/D007966 property_value: exactMatch http://identifiers.org/snomedct/66521008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023522 property_value: exactMatch NCIT:C61251 property_value: exactMatch Orphanet:512 [Term] id: MONDO:0018869 name: cobblestone lissencephaly def: "Cobblestone lissencephaly is a rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent." [Orphanet:51577] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:51577"} synonym: "lissencephaly type 2" EXACT [Orphanet:51577] xref: MESH:D054222 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: Orphanet:51577 {source="MONDO:equivalentTo"} xref: SCTID:253149002 {source="MONDO:equivalentTo"} is_a: MONDO:0018838 {source="Orphanet:51577"} ! lissencephaly spectrum disorders property_value: exactMatch http://identifiers.org/mesh/D054222 property_value: exactMatch http://identifiers.org/snomedct/253149002 property_value: exactMatch Orphanet:51577 [Term] id: MONDO:0018870 name: arterial calcification of infancy def: "Idiopathic arterial calcification of infancy is a rare condition characterized by extensive calcification and stenosis of the large and medium sized arteries." [Orphanet:51608] subset: ordo_disease {source="Orphanet:51608"} synonym: "generalised arterial calcification in infancy" RELATED OMO:0003005 [] synonym: "generalised arterial calcification of infancy" EXACT OMO:0003005 [] synonym: "generalized arterial calcification in infancy" RELATED [GARD:0008380] synonym: "generalized arterial calcification of infancy" EXACT [DOID:0050644] synonym: "idiopathic infantile arterial calcification" EXACT [DOID:0050644, Orphanet:51608] synonym: "idiopathic obliterative arteriopathy" EXACT [Orphanet:51608] synonym: "IIAC" RELATED ABBREVIATION [GARD:0008380] synonym: "infantile arteriosclerosis" EXACT [DOID:0050644, Orphanet:51608] synonym: "occlusive infantile arteriopathy" EXACT [Orphanet:51608] xref: DOID:0050644 {source="MONDO:equivalentTo"} xref: MESH:C537440 {source="Orphanet:51608/e", source="MONDO:equivalentTo", source="Orphanet:51608"} xref: OMIMPS:208000 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:51608 {source="MONDO:equivalentTo", source="DOID:0050644"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0004264 {source="Orphanet:51608"} ! vascular disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0016517"} ! rare property_value: exactMatch DOID:0050644 property_value: exactMatch http://identifiers.org/mesh/C537440 property_value: exactMatch https://omim.org/phenotypicSeries/PS208000 property_value: exactMatch Orphanet:51608 [Term] id: MONDO:0018875 name: Li-Fraumeni syndrome def: "A rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC)." [Orphanet:524] subset: clingen subset: ordo_disease {source="Orphanet:524"} synonym: "LFS" EXACT ABBREVIATION [OMIM:151623] synonym: "LFS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:151623] synonym: "LFS3" RELATED ABBREVIATION [MONDO:0012234, MONDO:Lexical, OMIM:609266] synonym: "Li Fraumeni syndrome" EXACT [GARD:0006902] synonym: "Li-Fraumeni familial cancer susceptibility syndrome" EXACT [NCIT:C3476] synonym: "Li-Fraumeni familiar cancer susceptibility syndrome" EXACT [DOID:3012, NCIT:C3476] synonym: "Li-Fraumeni syndrome" EXACT [NCIT:C3476, OMIM:151623] synonym: "Li-Fraumeni syndrome caused by mutation in TP53" EXACT [MONDO:design_pattern] synonym: "Li-Fraumeni-like syndrome" RELATED [OMIM:151623] synonym: "sarcoma family syndrome of 51 and Fraumeni" RELATED [OMIM:151623] synonym: "sarcoma family syndrome of Li and Fraumeni" RELATED [GARD:0006902] synonym: "sarcoma, breast, leukaemia and adrenal gland syndrome" EXACT OMO:0003005 [] synonym: "sarcoma, breast, leukemia and adrenal gland syndrome" EXACT [DOID:3012] synonym: "SBLA syndrome" EXACT [DOID:3012, OMIM:151623] synonym: "SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)" RELATED [GARD:0006902] synonym: "TP53 Li-Fraumeni syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:3012 {source="MONDO:equivalentTo"} xref: ICD9:V84.01 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10066795 {source="Orphanet:524", source="Orphanet:524/e"} xref: MESH:D016864 {source="DOID:3012", source="Orphanet:524", source="MONDO:equivalentTo", source="Orphanet:524/e"} xref: NCIT:C3476 {source="DOID:3012", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: OMIM:151623 {source="MONDO:equivalentTo"} xref: OMIM:609266 {source="MONDO:equivalentObsolete"} xref: OMIMPS:151623 {source="MONDO:cjm", source="MONDO:relatedTo"} xref: Orphanet:524 {source="DOID:3012", source="OMIM:151623", source="MONDO:equivalentTo", source="OMIM:609266"} xref: SCTID:428850001 {source="DOID:3012", source="MONDO:equivalentTo"} xref: UMLS:C0085390 {source="DOID:3012", source="Orphanet:524", source="MONDO:equivalentTo", source="Orphanet:524/e", source="NCIT:C3476"} is_a: MONDO:0000426 {source="DOID:3012", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0015356 {source="MESH:D016864", source="NCIT:C3476", source="Orphanet:524"} ! hereditary neoplastic syndrome is_a: MONDO:0016756 {source="Orphanet:524"} ! inherited nervous system cancer-predisposing syndrome property_value: closeMatch http://identifiers.org/meddra/10066795 property_value: exactMatch DOID:3012 property_value: exactMatch http://identifiers.org/mesh/D016864 property_value: exactMatch http://identifiers.org/snomedct/428850001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085390 property_value: exactMatch https://omim.org/entry/151623 property_value: exactMatch NCIT:C3476 property_value: exactMatch Orphanet:524 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6260 xsd:anyURI property_value: relatedMatch https://omim.org/phenotypicSeries/PS151623 [Term] id: MONDO:0018877 name: retinitis punctata albescens subset: ordo_disease {source="Orphanet:52427"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:52427", source="Orphanet:52427/index", source="Orphanet:52427/ntbt"} xref: Orphanet:52427 {source="MONDO:equivalentTo"} xref: SCTID:715562001 {source="MONDO:equivalentTo"} xref: UMLS:CN205224 {source="MONDO:equivalentTo"} is_a: MONDO:0007639 ! fundus albipunctatus property_value: exactMatch http://identifiers.org/snomedct/715562001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205224 property_value: exactMatch Orphanet:52427 [Term] id: MONDO:0018878 name: branchiootic syndrome def: "Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space)." [Orphanet:52429] subset: ordo_malformation_syndrome {source="Orphanet:52429"} synonym: "bo syndrome" EXACT [DOID:0060232] synonym: "bor" EXACT [DOID:0060232] synonym: "branchiootic dysplasia" EXACT [DOID:0060232] xref: DOID:0060232 {source="MONDO:equivalentTo"} xref: MESH:C537104 {source="MONDO:equivalentTo"} xref: Orphanet:52429 {source="DOID:0060232", source="MONDO:equivalentTo"} xref: SCTID:764810000 {source="MONDO:equivalentTo"} xref: UMLS:CN205225 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="DOID:0060232", source="MONDO:Redundant", source="MONDO:indirect"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:52429"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch DOID:0060232 property_value: exactMatch http://identifiers.org/mesh/C537104 property_value: exactMatch http://identifiers.org/snomedct/764810000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205225 property_value: exactMatch Orphanet:52429 [Term] id: MONDO:0018883 name: Berardinelli-Seip congenital lipodystrophy def: "A lipodystrophy characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance." [https://orcid.org/0000-0001-5208-3432, Orphanet:528] subset: ordo_disease {source="Orphanet:528"} synonym: "Beradinelli-Seip syndrome" EXACT [Orphanet:528] synonym: "Berardinelli lipodystrophy syndrome" EXACT [NCIT:C84594] synonym: "Berardinelli Seip syndrome" EXACT [NCIT:C84594] synonym: "Brunzell syndrome" EXACT [Orphanet:528] synonym: "BSCL" EXACT ABBREVIATION [Orphanet:528] synonym: "congenital generalised lipodystrophy" RELATED OMO:0003005 [] synonym: "congenital generalized lipodystrophy" RELATED [NCIT:C84594] synonym: "GCL" EXACT ABBREVIATION [Orphanet:528] synonym: "generalised congenital lipodystrophy" EXACT OMO:0003005 [] synonym: "generalized congenital lipodystrophy" EXACT [Orphanet:528] synonym: "Lawrence-Seip syndrome" RELATED [NCIT:C84594] synonym: "lipoatrophic diabetes" RELATED [Orphanet:528] synonym: "Seip-Bernardinelli syndrome" EXACT [NCIT:C84594] synonym: "total lipodystrophy" EXACT [NCIT:C84594] xref: ICD9:250.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10024603 {source="Orphanet:528", source="Orphanet:528/e"} xref: NCIT:C84594 {source="MONDO:equivalentTo"} xref: Orphanet:528 {source="MONDO:equivalentTo"} xref: SCTID:127012008 {source="MONDO:relatedTo"} is_a: MONDO:0020087 {source="MONDO:Redundant", source="Orphanet:528"} ! hereditary lipodystrophy is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:528", source="Orphanet:528/inferred"} ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: closeMatch http://identifiers.org/meddra/10024603 property_value: exactMatch NCIT:C84594 property_value: exactMatch Orphanet:528 property_value: excluded_subClassOf MONDO:0005015 {source="MONDO:0015885-obsoleted"} property_value: excluded_subClassOf MONDO:0015333 {source="Orphanet:528"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5723 xsd:anyURI [Term] id: MONDO:0018884 name: Roch-Leri mesosomatous lipomatosis def: "Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984." [Orphanet:529] subset: gard_rare {source="GARD:0004733"} subset: ordo_disease {source="Orphanet:529"} synonym: "Roch-Leri syndrome" RELATED [GARD:0004733] xref: Orphanet:529 {source="MONDO:equivalentTo"} xref: SCTID:716772007 {source="MONDO:equivalentTo"} xref: UMLS:C4274284 {source="MONDO:equivalentTo"} is_a: MONDO:0019296 {source="Orphanet:529"} ! subcutaneous tissue disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0015949"} ! rare property_value: exactMatch http://identifiers.org/snomedct/716772007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274284 property_value: exactMatch Orphanet:529 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4733/roch-leri-mesosomatous-lipomatosis xsd:anyURI {source="GARD:0004733"} [Term] id: MONDO:0018888 name: congenital cornea plana comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: obsoletion_candidate subset: ordo_morphological_anomaly {source="Orphanet:53691"} xref: Orphanet:53691 {source="MONDO:equivalentTo"} is_a: MONDO:0000733 {source="https://orcid.org/0000-0001-5208-3432"} ! cornea plana relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch Orphanet:53691 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0018889 name: hyaline body myopathy subset: ordo_disease {source="Orphanet:53698"} synonym: "myosin storage myopathy" EXACT [GARD:0007148, PMID:17118657] xref: DOID:0111267 {source="MONDO:equivalentTo"} xref: Orphanet:53698 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0016195 {source="Orphanet:209185"} ! qualitative or quantitative defects of beta-myosin heavy chain (MYH7) is_a: MONDO:0019952 {source="Orphanet:53698"} ! congenital myopathy property_value: exactMatch DOID:0111267 property_value: exactMatch Orphanet:53698 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5658 xsd:anyURI [Term] id: MONDO:0018892 name: Wyburn-Mason syndrome def: "Wyburn-Mason syndrome or Bonnet-Dechaume-Blanc syndrome is characterized by the association of arteriovenous malformations of the maxilla, retina, optic nerve, thalamus, hypothalamus and cerebral cortex." [Orphanet:53719] subset: ordo_malformation_syndrome {source="Orphanet:53719"} synonym: "arteriovenous aneurysm of mid-brain and retina, facial nevi and mental changes" RELATED [GARD:0007900] synonym: "bonnet-Decaume-Blanc syndrome" RELATED [GARD:0007900] synonym: "bonnet-Dechaume-Blanc syndrome" EXACT [Orphanet:53719] synonym: "CAMS2" EXACT ABBREVIATION [Orphanet:53719] synonym: "Cerebrofacial arteriovenous metameric syndrome type 2" EXACT [Orphanet:53719] synonym: "Wyburn Mason syndrome" RELATED [GARD:0007900] synonym: "Wyburn Mason's syndrome" RELATED [GARD:0007900] xref: MedDRA:10048661 {source="Orphanet:53719/e", source="Orphanet:53719"} xref: MESH:C536752 {source="Orphanet:53719/e", source="MONDO:equivalentTo", source="Orphanet:53719"} xref: Orphanet:53719 {source="MONDO:equivalentTo"} xref: SCTID:6729006 {source="MONDO:equivalentTo"} xref: UMLS:C0265321 {source="Orphanet:53719/e", source="MONDO:equivalentTo", source="Orphanet:53719"} is_a: MONDO:0003110 ! skin hemangioma is_a: MONDO:0015405 {source="Orphanet:53719"} ! cerebrofacial arteriovenous metameric syndrome is_a: MONDO:0019293 {source="Orphanet:53719"} ! skin vascular disease is_a: MONDO:0021605 ! benign eyelid neoplasm is_a: MONDO:0042983 {source="MESH:C536752", source="Wikipedia:Phakomatosis"} ! neurocutaneous syndrome property_value: closeMatch http://identifiers.org/meddra/10048661 property_value: exactMatch http://identifiers.org/mesh/C536752 property_value: exactMatch http://identifiers.org/snomedct/6729006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265321 property_value: exactMatch Orphanet:53719 [Term] id: MONDO:0018894 name: distal hereditary motor neuropathy subset: disease_grouping subset: gard_rare {source="GARD:0012683"} subset: ordo_group_of_disorders {source="Orphanet:53739"} synonym: "dHMN" EXACT [Orphanet:53739] synonym: "distal spinal muscular atrophy" EXACT [Orphanet:53739] synonym: "dSMA" EXACT [Orphanet:53739] xref: Orphanet:53739 {source="MONDO:equivalentTo"} xref: SCTID:230247001 {source="MONDO:equivalentTo"} is_a: MONDO:0020127 {source="Orphanet:53739"} ! hereditary peripheral neuropathy is_a: MONDO:0024257 ! hereditary motor neuron disease property_value: exactMatch http://identifiers.org/snomedct/230247001 property_value: exactMatch Orphanet:53739 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12683/distal-hereditary-motor-neuropathy xsd:anyURI {source="GARD:0012683"} [Term] id: MONDO:0018896 name: thrombotic thrombocytopenic purpura def: "Thrombotic thrombocytopenic purpura (TTP) is an aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of congenital TTP and acquired TTP." [Orphanet:54057] subset: ordo_disease {source="Orphanet:54057"} synonym: "Moschcowitz disease" EXACT [Orphanet:54057] synonym: "Moschcowitz's syndrome" EXACT [DOID:10772] synonym: "Moschowitz disease" EXACT [NCIT:C78797] synonym: "TTP" EXACT ABBREVIATION [Orphanet:54057] xref: DOID:10772 {source="MONDO:equivalentTo"} xref: MedDRA:10043648 {source="Orphanet:54057/e", source="Orphanet:54057"} xref: MESH:D011697 {source="Orphanet:54057/e", source="MONDO:equivalentTo", source="Orphanet:54057", source="DOID:10772"} xref: NCIT:C78797 {source="MONDO:equivalentTo", source="DOID:10772"} xref: Orphanet:54057 {source="MONDO:equivalentTo"} xref: SCTID:78129009 {source="MONDO:equivalentTo", source="DOID:10772"} xref: UMLS:C0034155 {source="Orphanet:54057/e", source="MONDO:equivalentTo", source="NCIT:C78797", source="Orphanet:54057", source="DOID:10772"} is_a: EFO:0009315 {source="DOID:10772", source="MESH:D011697"} ! thrombophilia is_a: MONDO:0043768 {source="MESH:D011697", source="NCIT:C78797"} ! thrombocytopenic purpura property_value: closeMatch http://identifiers.org/meddra/10043648 property_value: exactMatch DOID:10772 property_value: exactMatch http://identifiers.org/mesh/D011697 property_value: exactMatch http://identifiers.org/snomedct/78129009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034155 property_value: exactMatch NCIT:C78797 property_value: exactMatch Orphanet:54057 [Term] id: MONDO:0018898 name: primary cutaneous lymphoma def: "Cutaneous lymphoma is a heterogeneous entity with respect to its clinical and pathological features, evolutive profile, prognosis, molecular etiology and response to therapy. These specifications have been taken into account in recent classifications, which have placed particular importance on the prognostic implications of these different entities." [Orphanet:542] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:542"} synonym: "cutaneous (skin) lymphoma" EXACT [NCIT:C7162] synonym: "primary cutaneous lymphoma" EXACT [NCIT:C7162] synonym: "primary skin lymphoma" EXACT [NCIT:C7162] xref: MedDRA:10051708 {source="Orphanet:542/e", source="Orphanet:542"} xref: NCIT:C7162 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: Orphanet:542 {source="MONDO:equivalentTo"} xref: SCTID:400001003 {source="MONDO:equivalentTo"} xref: UMLS:C1302772 {source="Orphanet:542/e", source="MONDO:equivalentTo", source="Orphanet:542", source="NCIT:C7162"} is_a: MONDO:0002898 {source="MONDO:Entailed", source="NCIT:C7162"} ! skin cancer is_a: MONDO:0017207 {source="Orphanet:542"} ! primary organ-specific lymphoma is_a: MONDO:0100118 ! hereditary skin disorder property_value: closeMatch http://identifiers.org/meddra/10051708 property_value: exactMatch http://identifiers.org/snomedct/400001003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1302772 property_value: exactMatch NCIT:C7162 property_value: exactMatch Orphanet:542 property_value: excluded_subClassOf MONDO:0019300 {source="Orphanet:542"} [Term] id: MONDO:0018899 name: posterior cortical atrophy def: "Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities." [Orphanet:54247] subset: ordo_disease {source="Orphanet:54247"} synonym: "Benson syndrome" EXACT [Orphanet:54247] synonym: "biparietal Alzheimer disease" EXACT [Orphanet:54247] synonym: "PCA" EXACT ABBREVIATION [Orphanet:54247] xref: Orphanet:54247 {source="MONDO:equivalentTo"} xref: SCTID:715574002 {source="MONDO:equivalentTo"} xref: UMLS:CN205270 {source="MONDO:equivalentTo"} is_a: MONDO:0015547 ! hereditary dementia is_a: MONDO:0024237 {source="Orphanet:54247"} ! inherited neurodegenerative disorder property_value: exactMatch http://identifiers.org/snomedct/715574002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205270 property_value: exactMatch Orphanet:54247 [Term] id: MONDO:0018901 name: left ventricular noncompaction def: "Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events." [Orphanet:54260] subset: gard_rare {source="GARD:0010985"} subset: ordo_disease {source="Orphanet:54260"} synonym: "left ventricular hypertrabeculation" EXACT [DOID:0060480, Orphanet:54260] synonym: "left ventricular non-compaction cardiomyopathy" EXACT [NCIT:C99544] synonym: "left ventricular non-compaction syndrome" EXACT [NCIT:C99544] synonym: "left ventricular noncompaction (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Lv non-compaction syndrome" EXACT [NCIT:C99544] synonym: "LVNC" EXACT ABBREVIATION [Orphanet:54260] synonym: "spongy myocardium" EXACT [Orphanet:54260] xref: DOID:0060480 {source="MONDO:equivalentTo"} xref: NCIT:C99544 {source="MONDO:equivalentTo"} xref: OMIMPS:604169 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:54260 {source="MONDO:equivalentTo", source="DOID:0060480"} xref: UMLS:C1960469 {source="MONDO:equivalentTo", source="Orphanet:54260", source="Orphanet:54260/e"} xref: UMLS:C4021133 {source="MONDO:equivalentTo"} is_a: EFO:0002945 ! familial cardiomyopathy is_a: EFO:0005207 {source="NCIT:C99544"} ! congenital heart disease is_a: MONDO:0000591 {source="DOID:0060480", source="Wikipedia:Cardiomyopathy"} ! intrinsic cardiomyopathy is_a: MONDO:0002254 {source="NCIT:C99544"} ! syndromic disease property_value: exactMatch DOID:0060480 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1960469 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4021133 property_value: exactMatch https://omim.org/phenotypicSeries/PS604169 property_value: exactMatch NCIT:C99544 property_value: exactMatch Orphanet:54260 property_value: excluded_subClassOf MONDO:0018797 {source="Orphanet:3384"} property_value: IAO:0000589 "left ventricular noncompaction (disease)" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10985/left-ventricular-noncompaction xsd:anyURI {source="GARD:0010985"} [Term] id: MONDO:0018904 name: primary membranoproliferative glomerulonephritis def: "A rare glomerular disease characterized by a pattern of glomerular injury on kidney biopsy with characteristic light microscopic changes: mesangial hypercellularity, endocapillary proliferation, and thickening of the glomerular basement membrane (GBM). On the basis of immunofluorescence (IF) the disorder is divided into C3 glomerulopathy (C3G) or immunoglobulin-mediated membranoproliferative glomerulonephritis. Through electron microscopy C3G is further divided into Dense deposit disease, with highly electrondense deposits in the glomerular basement membrane, and C3 glomerulonephritis, with mesangial, intramembranous, subendothelial and subepithelial deposits. Secondary causes (autoimmune, infectious, malignancies) are excluded." [Orphanet:54370] subset: ordo_disease {source="Orphanet:54370"} synonym: "membranoproliferative glomerulonephritis" RELATED [NCIT:C34644] synonym: "Mesangiocapillary glomerulonephritis" EXACT [Orphanet:54370] synonym: "MPGN" EXACT ABBREVIATION [Orphanet:54370] xref: ICD9:583.2 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10018370 {source="Orphanet:54370", source="Orphanet:54370/e"} xref: Orphanet:54370 {source="MONDO:equivalentTo"} xref: SCTID:80321008 {source="MONDO:relatedTo"} xref: UMLS:C0017662 {source="MONDO:relatedTo", source="Orphanet:54370", source="NCIT:C34644", source="Orphanet:54370/e"} is_a: MONDO:0002462 {source="NCIT:C34644"} ! glomerulonephritis property_value: closeMatch http://identifiers.org/meddra/10018370 property_value: exactMatch Orphanet:54370 [Term] id: MONDO:0018906 name: follicular lymphoma def: "Follicular lymphoma is a form of non-Hodgkin lymphoma characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved." [Orphanet:545] subset: gard_rare {source="GARD:0002356"} subset: ordo_disease {source="Orphanet:545"} synonym: "follicle center lymphoma" EXACT [NCIT:C3209] synonym: "follicle centre lymphoma" EXACT OMO:0003005 [] synonym: "follicular center cell lymphoma" EXACT [NCIT:C3209] synonym: "follicular centre cell lymphoma" EXACT OMO:0003005 [] synonym: "follicular non-Hodgkin lymphoma" EXACT [NCIT:C3209] synonym: "follicular non-Hodgkin's lymphoma" EXACT [NCIT:C3209] synonym: "lymphoma, follicular" RELATED [GARD:0002356] synonym: "lymphoma, follicular center cell" EXACT [NCIT:C3209] synonym: "lymphoma, follicular centre cell" EXACT OMO:0003005 [] synonym: "lymphoma, follicular, malignant" EXACT [NCIT:C3209] xref: DOID:0050873 {source="MONDO:equivalentTo"} xref: HGNC:990 {source="GARD:0002356"} xref: ICDO:9690/3 {source="NCIT:C3209"} xref: MESH:D008224 {source="Orphanet:545", source="DOID:0050873", source="MONDO:equivalentTo", source="Orphanet:545/e"} xref: NCIT:C3209 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:FL {source="MONDO:equivalentTo"} xref: Orphanet:545 {source="MONDO:equivalentTo"} xref: SCTID:308121000 {source="MONDO:equivalentTo"} xref: UMLS:C0024301 {source="NCIT:C3209", source="Orphanet:545", source="MONDO:equivalentTo", source="Orphanet:545/e"} is_a: EFO:0000096 {source="NCIT:C3209/inferred", source="ONCOTREE:FL"} ! neoplasm of mature B-cells is_a: MONDO:0017594 {source="Orphanet:545"} ! indolent B-cell non-Hodgkin lymphoma property_value: exactMatch DOID:0050873 property_value: exactMatch http://identifiers.org/mesh/D008224 property_value: exactMatch http://identifiers.org/snomedct/308121000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024301 property_value: exactMatch NCIT:C3209 property_value: exactMatch Orphanet:545 property_value: gwas:trait "true" xsd:boolean property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2356/follicular-lymphoma xsd:anyURI {source="GARD:0002356"} [Term] id: MONDO:0018910 name: oculocutaneous albinism def: "Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7." [Orphanet:55] subset: disease_grouping subset: gard_rare {source="GARD:0010958"} subset: ordo_group_of_disorders {source="Orphanet:55"} synonym: "albinism, oculocutaneous" RELATED [GARD:0010958] synonym: "non-syndromic oculocutaneous albinism" EXACT [] synonym: "nonsyndromic oculocutaneous albinism" EXACT [https://github.com/monarch-initiative/mondo/issues/641] synonym: "OCA" EXACT ABBREVIATION [Orphanet:55] xref: DOID:0050632 {source="MONDO:equivalentTo"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D016115 {source="Orphanet:55", source="MONDO:equivalentTo", source="Orphanet:55/e"} xref: NCIT:C84941 {source="MONDO:equivalentTo"} xref: OMIMPS:203100 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:55 {source="DOID:0050632", source="MONDO:equivalentTo"} xref: SCTID:63844009 {source="MONDO:equivalentTo"} xref: UMLS:C0078918 {source="NCIT:C84941", source="Orphanet:55", source="MONDO:equivalentTo", source="Orphanet:55/e"} is_a: MONDO:0018134 {source="Orphanet:55"} ! disorder of melanin metabolism is_a: MONDO:0019290 {source="MESH:D016115/inferred", source="Orphanet:55"} ! hypopigmentation of the skin is_a: MONDO:0020275 {source="Orphanet:55"} ! oculocutaneous or ocular albinism is_a: MONDO:0100118 ! hereditary skin disorder property_value: exactMatch DOID:0050632 property_value: exactMatch http://identifiers.org/mesh/D016115 property_value: exactMatch http://identifiers.org/snomedct/63844009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0078918 property_value: exactMatch https://omim.org/phenotypicSeries/PS203100 property_value: exactMatch NCIT:C84941 property_value: exactMatch Orphanet:55 property_value: excluded_subClassOf MONDO:0006025 {source="DOID:0050632"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10958/oculocutaneous-albinism xsd:anyURI {source="GARD:0010958"} [Term] id: MONDO:0018911 name: maturity-onset diabetes of the young def: "MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes." [Orphanet:552] subset: ordo_disease {source="Orphanet:552"} synonym: "Mason type diabetes" RELATED [GARD:0003697] synonym: "Mason-type diabetes" EXACT [DOID:0050524] synonym: "maturity onset diabetes of the young" EXACT [NCIT:C114769] synonym: "maturity-onset diabetes of the young" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:606391, Orphanet:552] synonym: "maturity-onset diabetes of the young (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "MODY" EXACT ABBREVIATION [DOID:0050524, MONDO:Lexical, OMIM:606391] xref: DOID:0050524 {source="MONDO:equivalentTo"} xref: HP:0004904 {source="MONDO:otherHierarchy"} xref: MESH:C562772 {source="MONDO:equivalentTo"} xref: NCIT:C114769 {source="MONDO:equivalentTo"} xref: OMIM:606391 {source="DOID:0050524", source="MONDO:equivalentTo", source="Orphanet:552/btnt", source="Orphanet:552"} xref: Orphanet:552 {source="DOID:0050524", source="MONDO:equivalentTo", source="OMIM:606391"} xref: SCTID:609561005 {source="MONDO:equivalentTo"} xref: UMLS:C0342276 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:606391", source="NCIT:C114769", source="Orphanet:552"} is_a: EFO:1001511 {source="MONDO:cjm", source="https://doi.org/10.2337/dci20-0065"} ! monogenic diabetes is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015967"} ! rare property_value: exactMatch DOID:0050524 property_value: exactMatch http://identifiers.org/mesh/C562772 property_value: exactMatch http://identifiers.org/snomedct/609561005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342276 property_value: exactMatch https://omim.org/entry/606391 property_value: exactMatch NCIT:C114769 property_value: exactMatch Orphanet:552 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: IAO:0000589 "maturity-onset diabetes of the young (disease)" xsd:string [Term] id: MONDO:0018914 name: hypotrichosis simplex def: "Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies." [Orphanet:55654] subset: ordo_disease {source="Orphanet:55654"} synonym: "hereditary hypotrichosis simplex" NARROW [Orphanet:55654] xref: MESH:C537160 {source="Orphanet:55654", source="MONDO:equivalentTo", source="Orphanet:55654/e"} xref: Orphanet:55654 {source="MONDO:equivalentTo"} xref: SCTID:723362004 {source="MONDO:equivalentTo"} xref: UMLS:C1854310 {source="Orphanet:55654", source="MONDO:equivalentTo", source="Orphanet:55654/e"} is_a: MONDO:0004907 {source="Orphanet:55654"} ! alopecia property_value: exactMatch http://identifiers.org/mesh/C537160 property_value: exactMatch http://identifiers.org/snomedct/723362004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854310 property_value: exactMatch Orphanet:55654 [Term] id: MONDO:0018916 name: isolated anorectal malformation def: "Anorectal malformations (ARM) comprise a wide spectrum of malformations involving the distal anus and rectum as well as the urinary and genital tracts, which can affect boys and girls." [Orphanet:557] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: obsoletion_candidate subset: ordo_morphological_anomaly {source="Orphanet:557"} synonym: "nonsyndromic anorectal malformation" EXACT [MONDO:patterns/isolated] xref: Orphanet:557 {source="MONDO:equivalentTo"} is_a: MONDO:0019938 {source="MONDO:Redundant", source="Orphanet:557"} ! anorectal malformation intersection_of: MONDO:0019938 ! anorectal malformation intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation relationship: has_characteristic MONDO:0021128 ! has an isolated presentation property_value: exactMatch Orphanet:557 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0018918 name: carcinoma of gallbladder and extrahepatic biliary tract def: "Carcinoma of the gallbladder (GBC) is the most common and aggressive form of biliary tract cancer (BTC) usually arising in the fundus of the gallbladder, rapidly metastasizing to lymph nodes and distant sites." [Orphanet:56044] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:56044"} synonym: "carcinoma of gallbladder and EBT" EXACT [Orphanet:56044] xref: MedDRA:10007426 {source="Orphanet:56044/e", source="Orphanet:56044"} xref: Orphanet:56044 {source="MONDO:equivalentTo"} xref: UMLS:C0153452 {source="MONDO:relatedTo", source="Orphanet:56044"} xref: UMLS:C0235782 {source="Orphanet:56044/e", source="MONDO:relatedTo", source="Orphanet:56044"} xref: UMLS:CN205299 {source="MONDO:equivalentTo"} is_a: MONDO:0021385 {source="MONDO:0017631-obsoleted"} ! extrahepatic bile duct neoplasm property_value: closeMatch http://identifiers.org/meddra/10007426 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205299 property_value: exactMatch Orphanet:56044 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0018919 name: McCune-Albright syndrome def: "McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), cafe-au-lait skin spots, and precocious puberty (PP)." [Orphanet:562] subset: ordo_disease {source="Orphanet:562"} synonym: "Albright's disease" EXACT [GARD:0006995] synonym: "gonadotropin-independent female-limited sexual precocity" EXACT [Orphanet:562] synonym: "MAS" EXACT ABBREVIATION [NCIT:C48627] synonym: "McCune Albright syndrome" EXACT [NCIT:C48627] synonym: "mccune-albright syndrome, somatic, mosaic" EXACT [OMIM:174800, OMIM:genemap2] synonym: "PFD" RELATED ABBREVIATION [GARD:0006995] synonym: "POFD" RELATED ABBREVIATION [GARD:0006995] synonym: "polyostotic fibrous dysplasia" RELATED [DOID:1858, OMIM:174800] xref: DOID:1858 {source="MONDO:equivalentTo"} xref: ICD10CM:Q78.1 {source="MONDO:relatedTo", source="Orphanet:562/ntbt", source="Orphanet:562/inclusion", source="Orphanet:562"} xref: MESH:D005359 {source="Orphanet:562/e", source="MONDO:relatedTo", source="Orphanet:562"} xref: NCIT:C48627 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: OMIM:174800 {source="Orphanet:562/e", source="MONDO:equivalentTo", source="DOID:1858", source="Orphanet:562"} xref: Orphanet:562 {source="MONDO:equivalentTo"} xref: SCTID:726029005 {source="MONDO:equivalentTo"} xref: UMLS:C0016065 {source="OMIM:174800", source="Orphanet:93276", source="MONDO:equivalentTo", source="Orphanet:93276/e", source="NCIT:C34610", source="DOID:1858"} xref: UMLS:C0242292 {source="OMIM:174800", source="Orphanet:562/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C48627", source="Orphanet:562"} is_a: MONDO:0035682 {source="Orphanet:562", source="https://orcid.org/0000-0001-5493-2602"} ! fibrous dysplasia/McCune-Albright syndrome is_a: MONDO:0800089 {source="PMID:31633310"} ! primary bone dysplasia with disorganized development of skeletal components relationship: disease_has_feature MONDO:0015791 {source="Orphanet:562"} ! peripheral precocious puberty relationship: disease_has_feature MONDO:0018561 {source="Orphanet:562"} ! precocious puberty in female relationship: disease_has_feature MONDO:0019289 {source="Orphanet:562"} ! hyperpigmentation of the skin property_value: exactMatch DOID:1858 property_value: exactMatch http://identifiers.org/snomedct/726029005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016065 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242292 property_value: exactMatch https://omim.org/entry/174800 property_value: exactMatch NCIT:C48627 property_value: exactMatch Orphanet:562 property_value: excluded_subClassOf MONDO:0000426 {source="DOID:1858"} property_value: excluded_subClassOf MONDO:0015945 {source="Orphanet:562"} property_value: excluded_subClassOf MONDO:0019708 {source="Orphanet:562"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0018921 name: Meckel syndrome def: "A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia." [https://orcid.org/0000-0001-5208-3432, Orphanet:564] subset: ordo_malformation_syndrome {source="Orphanet:564"} synonym: "Meckel-Gruber syndrome" EXACT [DOID:0050778, Orphanet:564] xref: DOID:0050778 {source="MONDO:equivalentTo"} xref: ICD9:753.1 {source="DOID:0050778"} xref: ICD9:753.10 {source="DOID:0050778"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C98978 {source="MONDO:equivalentTo"} xref: OMIMPS:249000 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:564 {source="MONDO:equivalentTo", source="DOID:0050778"} xref: SCTID:29076005 {source="MONDO:equivalentTo"} xref: UMLS:C0265215 {source="NCIT:C98978", source="Orphanet:564/e", source="MONDO:equivalentTo", source="Orphanet:564"} is_a: EFO:0003900 {source="DOID:0050778", source="Wikipedia:Ciliopathy"} ! ciliopathy is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C98978"} ! syndromic disease is_a: MONDO:0043009 {source="MONDO:Redundant", source="Orphanet:564"} ! hereditary lethal multiple congenital anomalies/dysmorphic syndrome property_value: exactMatch DOID:0050778 property_value: exactMatch http://identifiers.org/snomedct/29076005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265215 property_value: exactMatch https://omim.org/phenotypicSeries/PS249000 property_value: exactMatch NCIT:C98978 property_value: exactMatch Orphanet:564 property_value: excluded_subClassOf MONDO:0005328 {source="MONDO:0020222-obsoleted"} property_value: excluded_subClassOf MONDO:0015214 {source="Orphanet:564"} property_value: excluded_subClassOf MONDO:0015220 {source="MONDO:0017120-obsoleted"} property_value: excluded_subClassOf MONDO:0015335 {source="Orphanet:564"} property_value: excluded_subClassOf MONDO:0018731 {source="Orphanet:564"} property_value: excluded_subClassOf MONDO:0019721 {source="Orphanet:564"} property_value: excluded_subClassOf MONDO:0019741 {source="Orphanet:564"} property_value: excluded_subClassOf MONDO:0020229 {source="Orphanet:564"} property_value: excluded_subClassOf MONDO:0020237 {source="Orphanet:564"} [Term] id: MONDO:0018922 name: cold agglutinin disease def: "Cold agglutinin disease is a type of autoimmune hemolytic anemia defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C)." [Orphanet:56425] subset: ordo_disease {source="Orphanet:56425"} synonym: "anemia, hemolytic, cold antibody" RELATED [GARD:0006130] synonym: "CAD" EXACT ABBREVIATION [Orphanet:56425] synonym: "CAS" EXACT ABBREVIATION [Orphanet:56425] synonym: "chronic cold agglutinin disease" EXACT [Orphanet:56425] synonym: "cold agglutinin syndrome" EXACT [Orphanet:56425] synonym: "cold antibody disease" RELATED [GARD:0006130] synonym: "cold antibody hemolytic anaemia" RELATED OMO:0003005 [] synonym: "cold antibody hemolytic anemia" RELATED [GARD:0006130] xref: Orphanet:56425 {source="MONDO:equivalentTo"} xref: SCTID:127055007 {source="MONDO:equivalentTo"} xref: UMLS:C1264008 {source="MONDO:equivalentTo"} xref: UMLS:CN205305 {source="MONDO:equivalentTo"} is_a: MONDO:0016450 {source="Orphanet:56425"} ! autoimmune hemolytic anemia, cold type property_value: exactMatch http://identifiers.org/snomedct/127055007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1264008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205305 property_value: exactMatch Orphanet:56425 [Term] id: MONDO:0018923 name: 22q11.2 deletion syndrome def: "22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." [Orphanet:567] subset: ordo_malformation_syndrome {source="Orphanet:567"} synonym: "22q11DS" EXACT [Orphanet:567] synonym: "catch 22" EXACT [Orphanet:567] synonym: "Cayler cardiofacial syndrome" EXACT [Orphanet:567] synonym: "conotruncal anomaly face syndrome" EXACT [Orphanet:567] synonym: "DiGeorge sequence" NARROW [Orphanet:567] synonym: "DiGeorge syndrome" NARROW [Orphanet:567] synonym: "microdeletion 22q11.2" EXACT [Orphanet:567] synonym: "monosomy 22q11" EXACT [Orphanet:567] synonym: "Sedlackova syndrome" EXACT [Orphanet:567] synonym: "Shprintzen syndrome" EXACT [Orphanet:567] synonym: "Takao syndrome" EXACT [Orphanet:567] synonym: "VCFS" RELATED ABBREVIATION [GARD:0010299] synonym: "velocardiofacial syndrome" RELATED [Orphanet:567] xref: DECIPHER:16 {source="MONDO:equivalentTo"} xref: MedDRA:10012979 {source="Orphanet:567", source="Orphanet:567/e"} xref: MedDRA:10066430 {source="Orphanet:567", source="Orphanet:567/e"} xref: Orphanet:567 {source="MONDO:equivalentTo"} is_a: EFO:0003777 {source="MONDO:0015506-obsoleted"} ! heart disease is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015160 {source="Orphanet:567"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0015246 {source="Orphanet:567"} ! syndromic anorectal malformation is_a: MONDO:0015334 {source="Orphanet:567"} ! branchial arch or oral-acral syndrome is_a: MONDO:0015823 ! primary immunodeficiency due to a defect in adaptive immunity is_a: MONDO:0018187 ! hereditary syndromic Pierre Robin syndrome is_a: MONDO:0018751 ! hereditary otorhinolaryngologic disease is_a: MONDO:0022760 {source="Orphanet:567"} ! chromosome 22q deletion property_value: closeMatch http://identifiers.org/meddra/10012979 property_value: closeMatch http://identifiers.org/meddra/10066430 property_value: exactMatch Orphanet:567 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0018924 name: microphthalmia, Lenz type def: "A very rare X-linked inherited form of syndromic microphthalmia characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome." [Orphanet:568] comment: Editors note: TODO check subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:568"} synonym: "Lenz dysplasia" RELATED [GARD:0000087] synonym: "Lenz microphthalmia" EXACT [Orphanet:568] synonym: "Lenz microphthamia syndrome" EXACT [PMID:31127942] synonym: "MAA (formerly)" RELATED [GARD:0000087] synonym: "MCOPS1" RELATED ABBREVIATION [GARD:0000087] synonym: "microphthalmia Lenz type" RELATED [GARD:0000087] synonym: "microphthalmia or anophthalmos with associated anomalies (formerly)" RELATED [GARD:0000087] synonym: "microphthalmia syndromic 1" RELATED [GARD:0000087] synonym: "syndromic microphthalmia type 1" RELATED [GARD:0000087] xref: Orphanet:568 {source="GARD:0000087", source="MONDO:equivalentTo"} is_a: MONDO:0016073 {source="Orphanet:568"} ! syndromic microphthalmia property_value: exactMatch Orphanet:568 property_value: excluded_subClassOf MONDO:0015160 {source="Orphanet:568"} property_value: excluded_subClassOf MONDO:0015217 {source="Orphanet:568"} property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:568"} property_value: excluded_subClassOf MONDO:0020237 {source="Orphanet:568"} property_value: excluded_subClassOf MONDO:0100124 {source="https://clinicalgenome.org/affiliation/40006/"} [Term] id: MONDO:0018925 name: familial or sporadic hemiplegic migraine def: "Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM)." [Orphanet:569] subset: gard_rare subset: ordo_disease {source="Orphanet:569"} synonym: "familial or sporadic hemiplegic migraine" EXACT [] synonym: "hemiplegic migraine" EXACT [MONDO:0023310] xref: ICD9:346.30 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: Orphanet:569 {source="MONDO:equivalentTo", source="GARD:0010768"} xref: SCTID:59292006 {source="MONDO:equivalentTo"} is_a: MONDO:0005475 ! migraine with aura property_value: exactMatch http://identifiers.org/snomedct/59292006 property_value: exactMatch Orphanet:569 property_value: excluded_subClassOf MONDO:0015642 {source="Orphanet:569"} property_value: excluded_subClassOf MONDO:0015953 {source="Orphanet:569"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10768/hemiplegic-migraine xsd:anyURI {source="GARD:0010768"} [Term] id: MONDO:0018926 name: human prion disease def: "Prion diseases are a group of rare transmissible disorders characterized by progressive debilitating neurological manifestations due to spongiform changes with an invariably fatal course. The disorders all involve accumulation of an abnormal prion protein in the central nervous system with no specific immunological response. Sporadic Creutzfeldt-Jakob disease (CJD) is the most frequent form accounting for about 85% of prion disease cases. The other forms of prion disease are genetic (5-15%) and include inherited CJD, fatal familial insomnia (FFI), and Familial Alzheimer-like prion disease. Acquired forms (< 5%) include iatrogenic CJD and variant CJD (vCDJ)." [Orphanet:56970] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:56970"} synonym: "transmissible spongiform encephalopathy" EXACT [Orphanet:56970] synonym: "TSE" EXACT ABBREVIATION [Orphanet:56970] xref: ICD10CM:A81.1 {source="MONDO:relatedTo", source="Orphanet:56970/btnt", source="Orphanet:56970"} xref: Orphanet:56970 {source="MONDO:equivalentTo"} is_a: EFO:0005772 {source="https://github.com/monarch-initiative/mondo/issues/1498", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-2825-0621"} ! neurodegenerative disease is_a: EFO:1001456 ! central nervous system infection property_value: exactMatch Orphanet:56970 [Term] id: MONDO:0018930 name: monosomy 21 def: "Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit." [Orphanet:574] subset: ordo_malformation_syndrome {source="Orphanet:574"} synonym: "21q deletion" RELATED [GARD:0010860] synonym: "21q deletion syndrome" EXACT [Orphanet:574] synonym: "21q monosomy" RELATED [GARD:0010860] synonym: "21q- syndrome" EXACT [Orphanet:574] synonym: "chromosome 21q deletion" RELATED [GARD:0010860] synonym: "deletion 21q" RELATED [GARD:0010860] synonym: "monosomy 21q" RELATED [GARD:0010860] synonym: "monosomy type 21" EXACT [MONDORULE:2, Orphanet:574] synonym: "partial 21q monosomy" EXACT [Orphanet:574] synonym: "partial monosomy 21q" RELATED [GARD:0010860] xref: MESH:C537108 {source="MONDO:equivalentTo"} xref: NCIT:C36469 {source="MONDO:relatedTo", source="MONDO:otherHierarchy", source="MONDO:exact-label-match"} xref: Orphanet:574 {source="MONDO:equivalentTo"} xref: UMLS:C0795875 {source="Orphanet:574/e", source="MONDO:equivalentTo", source="Orphanet:574"} is_a: MONDO:0700124 ! chromosome 21 disorder property_value: exactMatch http://identifiers.org/mesh/C537108 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795875 property_value: exactMatch Orphanet:574 property_value: excluded_subClassOf MONDO:0020226 {source="Orphanet:574"} property_value: relatedMatch NCIT:C36469 [Term] id: MONDO:0018931 name: mucolipidosis type III, alpha/beta def: "Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients." [Orphanet:423461, PMID:6461005] subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:423461"} subset: ordo_disease {source="Orphanet:577"} synonym: "ML 3" BROAD [OMIM:252600] synonym: "ML 3 A" RELATED [GARD:0003806] synonym: "ML 3 Alpha/Beta" RELATED [OMIM:252600] synonym: "ML 3 alpha/beta" EXACT [Orphanet:423461] synonym: "ML III alpha/beta" EXACT [Orphanet:423461] synonym: "ML3" BROAD ABBREVIATION [GARD:0003806] synonym: "MLIII" EXACT ABBREVIATION [] synonym: "mucolipidosis 3" BROAD [OMIM:252600] synonym: "mucolipidosis 3 Alpha/Beta" RELATED [OMIM:252600] synonym: "mucolipidosis 3 Alpha/Beta, atypical" RELATED [OMIM:252600] synonym: "mucolipidosis 3A" RELATED [OMIM:252600] synonym: "mucolipidosis III" BROAD [DOID:0080071] synonym: "mucolipidosis III ALPHA/BETA" RELATED [OMIM:252600] synonym: "mucolipidosis type 3 alpha/beta" EXACT [Orphanet:423461] synonym: "mucolipidosis type 3A" RELATED [GARD:0003806] synonym: "mucolipidosis type III" EXACT [Orphanet:577] synonym: "mucolipidosis type III alpha/beta" RELATED [Orphanet:423461] synonym: "pseudo-Hurler polydystrophy" EXACT [GARD:0003806, OMIM:252600, Orphanet:577] xref: DOID:0080071 {source="MONDO:equivalentTo"} xref: OMIM:252600 {source="Orphanet:577", source="Orphanet:577/btnt", source="MONDO:equivalentTo", source="DOID:0080071", source="GARD:0003806", source="Orphanet:423461"} xref: Orphanet:423461 {source="MONDO:equivalentTo", source="OMIM:252600"} xref: Orphanet:577 {source="MONDO:equivalentTo", source="GARD:0003806", source="OMIM:252600"} xref: SCTID:65764006 {source="MONDO:equivalentTo"} xref: UMLS:CN237499 {source="MONDO:equivalentTo"} is_a: MONDO:0031422 {source="OMIM:252600"} ! familial mucolipidosis is_a: MONDO:0100122 {source="PMID:20301728", source="PMID:32651481"} ! GNPTAB-mucolipidosis is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement property_value: exactMatch DOID:0080071 property_value: exactMatch http://identifiers.org/snomedct/65764006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237499 property_value: exactMatch https://omim.org/entry/252600 property_value: exactMatch Orphanet:423461 property_value: exactMatch Orphanet:577 property_value: excluded_subClassOf MONDO:0005381 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3806/mucolipidosis-iii-alphabeta xsd:anyURI {source="GARD:0003806"} [Term] id: MONDO:0018933 name: Mazabraud syndrome def: "Mazabraud syndrome is a rare primary bone dysplasia characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia is usually multifocal, typically occuring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported." [Orphanet:57782] subset: ordo_malformation_syndrome {source="Orphanet:57782"} synonym: "Myxoma with fibrous dysplasia" EXACT [Orphanet:57782] xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:733.29 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:57782 {source="MONDO:equivalentTo"} xref: SCTID:699251001 {source="MONDO:equivalentTo"} xref: UMLS:CN205323 {source="MONDO:equivalentTo"} is_a: EFO:1000541 {source="Orphanet:57782"} ! Soft Tissue Neoplasm is_a: MONDO:0017127 {source="MONDO:Entailed"} ! inherited soft tissue tumor property_value: exactMatch http://identifiers.org/snomedct/699251001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205323 property_value: exactMatch Orphanet:57782 property_value: excluded_subClassOf MONDO:0019708 {source="Orphanet:57782"} [Term] id: MONDO:0018937 name: mucopolysaccharidosis type 3 def: "Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterized by severe and rapid intellectual deterioration." [Orphanet:581] subset: ordo_disease {source="Orphanet:581"} synonym: "heparan sulfate sulfatase deficiency" EXACT [DOID:12801] synonym: "heparan sulphate sulfatase deficiency" EXACT OMO:0003005 [] synonym: "MPS IIIA - Sanfilippo syndrome A" NARROW [DOID:12801] synonym: "MPS IIIB - Sanfilippo syndrome B" NARROW [DOID:12801] synonym: "MPS IIIC - Sanfilippo syndrome C" NARROW [DOID:12801] synonym: "MPS IIID - Sanfilippo syndrome D" NARROW [DOID:12801] synonym: "MPS3" EXACT ABBREVIATION [Orphanet:581] synonym: "MPSIII" EXACT ABBREVIATION [Orphanet:581] synonym: "Mucopoly-saccharidosis type 3" RELATED [GARD:0003807] synonym: "mucopolysaccharidosis III" RELATED [DOID:12801] synonym: "mucopolysaccharidosis type III" EXACT [DOID:12801, MONDORULE:3, Orphanet:581] synonym: "mucopolysaccharidosis type IIIA" NARROW [DOID:12801] synonym: "mucopolysaccharidosis type IIIB" NARROW [DOID:12801] synonym: "mucopolysaccharidosis, MPS-III" EXACT [DOID:12801] synonym: "mucopolysaccharidosis, MPS-III-B" NARROW [DOID:12801] synonym: "N-acetyl-alpha-D-glucosaminidase deficiency" NARROW [DOID:12801] synonym: "N-sulphoglucosamine sulphohydrolase deficiency" EXACT [DOID:12801] synonym: "NAGLU deficiency" NARROW [DOID:12801] synonym: "Sanfilippo disease" EXACT [Orphanet:581] synonym: "Sanfilippo syndrome" EXACT [NCIT:C61262] synonym: "Sanfilippo syndrome A" NARROW [DOID:12801] synonym: "Sanfilippo syndrome B" NARROW [DOID:12801] synonym: "Sanfilippo's syndrome" EXACT [DOID:12801] xref: DOID:12801 {source="MONDO:equivalentTo"} xref: MedDRA:10056890 {source="Orphanet:581/e", source="Orphanet:581"} xref: NCIT:C61262 {source="DOID:12801", source="MONDO:equivalentTo"} xref: Orphanet:581 {source="DOID:12801", source="MONDO:equivalentTo"} xref: SCTID:88393000 {source="DOID:12801", source="MONDO:equivalentTo"} xref: UMLS:C0026706 {source="Orphanet:581/e", source="DOID:12801", source="MONDO:equivalentTo", source="NCIT:C61262", source="Orphanet:581"} xref: UMLS:CN205330 {source="MONDO:equivalentTo"} is_a: EFO:0004260 ! bone disease is_a: MONDO:0002254 {source="NCIT:C61262"} ! syndromic disease is_a: MONDO:0019249 {source="DOID:12801", source="NCIT:C61262", source="Orphanet:581"} ! mucopolysaccharidosis relationship: has_characteristic MONDO:0021136 ! rare property_value: closeMatch http://identifiers.org/meddra/10056890 property_value: exactMatch DOID:12801 property_value: exactMatch http://identifiers.org/snomedct/88393000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026706 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205330 property_value: exactMatch NCIT:C61262 property_value: exactMatch Orphanet:581 [Term] id: MONDO:0018938 name: mucopolysaccharidosis type 4 def: "Mucopolysaccharidosis type IV (MPS IV) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterized by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B." [Orphanet:582] subset: ordo_disease {source="Orphanet:582"} synonym: "chondroosteodystrophy" NARROW [DOID:12804] synonym: "deficiency of chondroitinsulphatase" EXACT [DOID:12804] synonym: "deficiency of N-acetylgalactosamine-6-sulphatase" NARROW [DOID:12804] synonym: "galactosamine-6-sulfatase deficiency" NARROW [DOID:12804] synonym: "Morquio A disease" NARROW [DOID:12804] synonym: "Morquio disease" EXACT [Orphanet:582] synonym: "Morquio syndrome" EXACT [MONDO:cjm, NCIT:C61263] synonym: "Morquio syndrome A" NARROW [DOID:12804] synonym: "MPS IV - Morquio syndrome A" NARROW [DOID:12804] synonym: "MPS IV - Morquio syndrome B" NARROW [DOID:12804] synonym: "MPS4" EXACT ABBREVIATION [Orphanet:582] synonym: "MPSIV" EXACT ABBREVIATION [Orphanet:582] synonym: "mucopolysaccharidosis IV" EXACT [NCIT:C61263] synonym: "mucopolysaccharidosis type 4" EXACT [DOID:12804, MONDO:0001587] synonym: "mucopolysaccharidosis type IV" EXACT [DOID:12804, MONDORULE:3, NCIT:C61263, Orphanet:582] synonym: "mucopolysaccharidosis type IVA" NARROW [DOID:12804] synonym: "mucopolysaccharidosis type IVB" NARROW [DOID:12804] synonym: "mucopolysaccharidosis, MPS-IV" EXACT [DOID:12804] synonym: "mucopolysaccharidosis, MPS-IV-A" NARROW [DOID:12804] synonym: "Osteochondrodystrophy" NARROW [DOID:12804] xref: DOID:12804 {source="MONDO:equivalentTo"} xref: MedDRA:10028095 {source="Orphanet:582/e", source="Orphanet:582"} xref: NCIT:C61263 {source="MONDO:equivalentTo", source="DOID:12804"} xref: Orphanet:582 {source="MONDO:equivalentTo"} xref: SCTID:378007 {source="MONDO:equivalentTo", source="DOID:12804"} xref: UMLS:C0026707 {source="Orphanet:582/e", source="MONDO:equivalentTo", source="DOID:12804", source="Orphanet:582", source="NCIT:C61263"} is_a: EFO:0003966 ! eye disease is_a: EFO:0004260 ! bone disease is_a: MONDO:0002254 {source="NCIT:C61263"} ! syndromic disease is_a: MONDO:0019249 {source="DOID:12804", source="NCIT:C61263", source="Orphanet:582"} ! mucopolysaccharidosis relationship: has_characteristic MONDO:0021136 ! rare property_value: closeMatch http://identifiers.org/meddra/10028095 property_value: exactMatch DOID:12804 property_value: exactMatch http://identifiers.org/snomedct/378007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026707 property_value: exactMatch NCIT:C61263 property_value: exactMatch Orphanet:582 [Term] id: MONDO:0018939 name: muscle-eye-brain disease def: "A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe mental retardation and typical brain and eye malformations, including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. Patients may present with seizures, macrocephaly or microcephaly, microphthalmia, and congenital contractures. Depending on the severity, limited motor function is acquired. Less severe cases have been reported." [Orphanet:588] subset: gard_rare {source="GARD:0000156"} subset: ordo_disease {source="Orphanet:588"} synonym: "MEB" RELATED ABBREVIATION [GARD:0000156] synonym: "MEB syndrome" EXACT [Orphanet:588] synonym: "muscle eye brain disease" RELATED [GARD:0000156] synonym: "muscle-eye-brain syndrome" EXACT [Orphanet:588] synonym: "muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3" NARROW [GARD:0000156] synonym: "Santavuori congenital muscular dystrophy" EXACT [Orphanet:588] xref: ICD9:742.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:588 {source="MONDO:equivalentTo"} xref: SCTID:277950001 {source="MONDO:equivalentTo"} is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0016185 {source="Orphanet:588"} ! qualitative or quantitative defects of protein O-mannosyltransferase 2 is_a: MONDO:0017745 {source="Orphanet:588"} ! disorder of O-mannosylglycan synthesis is_a: MONDO:0018276 ! muscular dystrophy-dystroglycanopathy is_a: MONDO:0018869 ! cobblestone lissencephaly is_a: MONDO:0700066 ! myopathy caused by variation in FKRP is_a: MONDO:0700068 ! myopathy caused by variation in POMGNT1 property_value: exactMatch http://identifiers.org/snomedct/277950001 property_value: exactMatch Orphanet:588 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/156/muscle-eye-brain-disease xsd:anyURI {source="GARD:0000156"} [Term] id: MONDO:0018940 name: congenital myasthenic syndrome def: "Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness." [Orphanet:590] subset: gard_rare {source="GARD:0011902"} subset: ordo_disease {source="Orphanet:590"} synonym: "CMS" EXACT ABBREVIATION [Orphanet:590] synonym: "congenital MG" RELATED [GARD:0000098] synonym: "congenital myasthenia" RELATED [GARD:0011902] synonym: "erb-Goldflam syndrome" RELATED [GARD:0000098] synonym: "familial limb-girdle myasthenia" RELATED [DOID:3635] synonym: "myasthenia gravis congenital" RELATED [GARD:0000098] synonym: "myasthenia gravis pseudoparalytica" RELATED [GARD:0000098] synonym: "myasthenic syndrome, congenital" EXACT [OMIMPS:601462] xref: DOID:3635 {source="MONDO:equivalentTo"} xref: ICD9:358.00 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:V17.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D020294 {source="MONDO:equivalentTo", source="DOID:3635", source="Orphanet:590", source="Orphanet:590/e"} xref: NCIT:C84647 {source="MONDO:equivalentTo", source="DOID:3635"} xref: OMIMPS:601462 {source="MONDO:equivalentTo", source="DOID:3635"} xref: Orphanet:590 {source="MONDO:equivalentTo", source="DOID:3635"} xref: SCTID:230672006 {source="MONDO:equivalentTo", source="DOID:3635"} xref: UMLS:C0751882 {source="NCIT:C84647", source="MONDO:equivalentTo", source="DOID:3635", source="Orphanet:590", source="Orphanet:590/e"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0002254 {source="NCIT:C84647"} ! syndromic disease is_a: MONDO:0020124 {source="DOID:3635", source="MESH:D020294", source="MONDO:Redundant", source="Orphanet:590", source="Orphanet:590/inferred"} ! neuromuscular junction disease is_a: MONDO:0020158 {source="MONDO:0020169-obsoleted"} ! eyelids malposition disorder property_value: exactMatch DOID:3635 property_value: exactMatch http://identifiers.org/mesh/D020294 property_value: exactMatch http://identifiers.org/snomedct/230672006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751882 property_value: exactMatch https://omim.org/phenotypicSeries/PS601462 property_value: exactMatch NCIT:C84647 property_value: exactMatch Orphanet:590 property_value: excluded_subClassOf MONDO:0020260 {source="Orphanet:590", source="https://github.com/Orphanet/ORDO/issues/17"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11902/congenital-myasthenic-syndrome xsd:anyURI {source="GARD:0011902"} [Term] id: MONDO:0018943 name: myofibrillar myopathy def: "Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients." [Orphanet:593] subset: clingen subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:593"} synonym: "Alpha Beta crystallinopathy (type)" RELATED [GARD:0010529] synonym: "desmin related myopathy (former name)" RELATED [GARD:0010529] synonym: "desmin storage myopathy (former name)" RELATED [GARD:0010529] synonym: "Desminopathy (type)" RELATED [GARD:0010529] synonym: "filaminopathy (type)" RELATED [GARD:0010529] synonym: "myofibrillar myopathies" RELATED [MESH:C580316] synonym: "myofibrillar myopathy" EXACT [MONDO:ambiguous, OMIMPS:601419] synonym: "myofibrillar myopathy (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "myotilinopathy (type)" RELATED [GARD:0010529] synonym: "Protein surplus myopathy (former name)" RELATED [GARD:0010529] synonym: "Zaspopathy (type)" RELATED [GARD:0010529] xref: DOID:0080307 {source="MONDO:equivalentTo"} xref: HP:0003715 {source="MONDO:otherHierarchy"} xref: ICD9:359.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C580316 {source="MONDO:equivalentTo"} xref: NCIT:C83009 {source="MONDO:equivalentTo"} xref: OMIMPS:601419 {source="MONDO:equivalentTo", source="DOID:0080307"} xref: Orphanet:593 {source="MONDO:equivalentTo"} xref: SCTID:699269005 {source="MONDO:equivalentTo"} xref: UMLS:C2678065 {source="NCIT:C83009", source="MONDO:equivalentTo", source="Orphanet:593"} is_a: MONDO:0002921 {source="MESH:C580316"} ! congenital structural myopathy property_value: exactMatch DOID:0080307 property_value: exactMatch http://identifiers.org/mesh/C580316 property_value: exactMatch http://identifiers.org/snomedct/699269005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678065 property_value: exactMatch https://omim.org/phenotypicSeries/PS601419 property_value: exactMatch NCIT:C83009 property_value: exactMatch Orphanet:593 property_value: IAO:0000589 "myofibrillar myopathy (disease)" xsd:string [Term] id: MONDO:0018944 name: gestational trophoblastic neoplasm def: "A diverse group of pregnancy-related tumors characterized by excessive proliferation of trophoblasts. Representative examples include hydatidiform mole, gestational choriocarcinoma, and placental site trophoblastic tumor." [NCIT:C4699] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:59305"} synonym: "gestational trophoblastic disease" BROAD [NCIT:C4699] synonym: "gestational trophoblastic neoplasia" EXACT [DOID:3590, NCIT:C4699] synonym: "gestational trophoblastic tumor" EXACT [NCIT:C4699] synonym: "gestational trophoblastic tumour" EXACT OMO:0003005 [] synonym: "GTN" EXACT ABBREVIATION [Orphanet:59305] synonym: "GTT" EXACT ABBREVIATION [NCIT:C4699] synonym: "hydatidiform mole" RELATED [DOID:3590] synonym: "molar pregnancy" RELATED [DOID:3590, NCIT:C3110] xref: DOID:3590 {source="MONDO:equivalentTo"} xref: ICD9:630 {source="DOID:3590"} xref: MedDRA:10061988 {source="Orphanet:59305", source="Orphanet:59305/e"} xref: MESH:D006828 {source="DOID:3590", source="MONDO:directSiblingOf"} xref: NCIT:C3110 {source="DOID:3590", source="MONDO:directSiblingOf"} xref: NCIT:C4699 {source="MONDO:equivalentTo", source="DOID:3590"} xref: Orphanet:59305 {source="MONDO:equivalentTo"} xref: SCTID:44782008 {source="DOID:3590", source="MONDO:directSiblingOf"} xref: SCTID:609519004 {source="MONDO:equivalentTo", source="DOID:3590"} xref: UMLS:C0020217 {source="DOID:3590", source="MONDO:directSiblingOf"} xref: UMLS:C1135868 {source="Orphanet:59305", source="MONDO:equivalentTo", source="Orphanet:59305/e", source="NCIT:C4699", source="DOID:3590"} is_a: EFO:0009682 {source="NCIT:C4699"} ! pregnancy disorder is_a: MONDO:0002872 {source="DOID:3590", source="NCIT:C4699"} ! trophoblastic neoplasm is_a: MONDO:0021148 {source="MONDO:Redundant", source="NCIT:C4699"} ! female reproductive system neoplasm property_value: closeMatch http://identifiers.org/meddra/10061988 property_value: exactMatch DOID:3590 property_value: exactMatch http://identifiers.org/snomedct/609519004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1135868 property_value: exactMatch NCIT:C4699 property_value: exactMatch Orphanet:59305 [Term] id: MONDO:0018945 name: McLeod neuroacanthocytosis syndrome def: "A form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." [Orphanet:59306] subset: gard_rare {source="GARD:0010731"} subset: ordo_disease {source="Orphanet:59306"} synonym: "MCLDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300842] synonym: "McLeod phenotype" RELATED [OMIM:300842] synonym: "McLeod syndrome" EXACT [MONDO:0010445, MONDO:Lexical, OMIM:300842] synonym: "McLeod syndrome with chronic granulomatous disease" RELATED [OMIM:300842] synonym: "mcleod syndrome with or without chronic granulomatous disease" EXACT [OMIM:300842, OMIM:genemap2] synonym: "MLS" EXACT ABBREVIATION [Orphanet:59306] synonym: "neuroacanthocytosis, McLeod type" RELATED [OMIM:300842] synonym: "X-linked McLeod syndrome" EXACT [Orphanet:59306] xref: DOID:0112107 {source="MONDO:equivalentTo"} xref: HGNC:12811 {source="GARD:0010731"} xref: ICD9:289.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C564038 {source="MONDO:equivalentTo"} xref: OMIM:300842 {source="Orphanet:59306", source="Orphanet:59306/ntbt", source="MONDO:equivalentTo"} xref: Orphanet:59306 {source="MONDO:equivalentTo", source="OMIM:300842"} xref: SCTID:234411007 {source="MONDO:equivalentTo"} is_a: MONDO:0016987 {source="Orphanet:59306"} ! neuroacanthocytosis property_value: exactMatch DOID:0112107 property_value: exactMatch http://identifiers.org/mesh/C564038 property_value: exactMatch http://identifiers.org/snomedct/234411007 property_value: exactMatch https://omim.org/entry/300842 property_value: exactMatch Orphanet:59306 property_value: excluded_subClassOf MONDO:0003689 property_value: excluded_subClassOf MONDO:0016337 {source="Orphanet:59306"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10731/mcleod-neuroacanthocytosis-syndrome xsd:anyURI {source="GARD:0010731"} [Term] id: MONDO:0018947 name: centronuclear myopathy def: "Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy." [Orphanet:595] subset: disease_grouping subset: gard_rare {source="GARD:0000101"} subset: ordo_group_of_disorders {source="Orphanet:595"} synonym: "centronuclear myopathy" EXACT [] synonym: "CNM" EXACT ABBREVIATION [Orphanet:595] synonym: "myopathy, centronuclear" EXACT [OMIMPS:160150] synonym: "myopathy, myotubular" RELATED [GARD:0000101] synonym: "myotubular myopathy" EXACT [DOID:14717] xref: DOID:14717 {source="MONDO:equivalentTo"} xref: MESH:D020914 {source="MONDO:relatedTo", source="DOID:14717"} xref: NCIT:C84648 {source="MONDO:relatedTo", source="DOID:14717"} xref: OMIMPS:160150 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:595 {source="DOID:14717", source="MONDO:equivalentTo"} xref: SCTID:82077006 {source="DOID:14717", source="MONDO:equivalentTo"} xref: UMLS:C0175709 {source="DOID:14717", source="MONDO:equivalentTo", source="Orphanet:595"} is_a: MONDO:0019952 {source="Orphanet:595"} ! congenital myopathy property_value: exactMatch DOID:14717 property_value: exactMatch http://identifiers.org/snomedct/82077006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0175709 property_value: exactMatch https://omim.org/phenotypicSeries/PS160150 property_value: exactMatch Orphanet:595 property_value: excluded_subClassOf MONDO:0020169 {source="Orphanet:595"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/101/centronuclear-myopathy xsd:anyURI {source="GARD:0000101"} [Term] id: MONDO:0018948 name: multiminicore myopathy def: "A hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy." [https://orcid.org/0000-0001-5208-3432, Orphanet:598] subset: ordo_disease {source="Orphanet:598"} synonym: "MmD" EXACT [Orphanet:598] synonym: "multicore disease" EXACT [GARD:0009130] synonym: "multicore myopathy" EXACT [GARD:0009130] synonym: "multiminicore disease" EXACT [Orphanet:598] xref: DOID:0080991 {source="MONDO:equivalentTo"} xref: Orphanet:598 {source="MONDO:equivalentTo"} xref: SCTID:55133004 {source="MONDO:equivalentTo"} xref: UMLS:C0270962 {source="Orphanet:598", source="MONDO:equivalentTo", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015765 {source="Orphanet:598"} ! congenital myopathy with cores is_a: MONDO:0016197 {source="Orphanet:598"} ! qualitative or quantitative defects of selenoprotein N1 property_value: exactMatch DOID:0080991 property_value: exactMatch http://identifiers.org/snomedct/55133004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270962 property_value: exactMatch Orphanet:598 [Term] id: MONDO:0018949 name: distal myopathy def: "Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." [Orphanet:599] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:599"} synonym: "distal muscular dystrophy" EXACT [MONDO:0001346, Orphanet:599] synonym: "distal myopathy" EXACT [DOID:11720] synonym: "Miyoshi muscular dystrophy" NARROW [DOID:11720] xref: DOID:11720 {source="MONDO:equivalentTo"} xref: NCIT:C84675 {source="DOID:11720", source="MONDO:equivalentTo"} xref: OMIMPS:160500 {source="MONDO:equivalentTo"} xref: Orphanet:599 {source="MONDO:equivalentTo"} xref: SCTID:58795000 {source="DOID:11720", source="MONDO:equivalentTo"} xref: UMLS:C0751336 {source="Orphanet:599", source="DOID:11720", source="MONDO:equivalentTo", source="NCIT:C84675"} is_a: MONDO:0020121 {source="DOID:11720", source="NCIT:C84675"} ! muscular dystrophy property_value: exactMatch DOID:11720 property_value: exactMatch http://identifiers.org/snomedct/58795000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751336 property_value: exactMatch https://omim.org/phenotypicSeries/PS160500 property_value: exactMatch NCIT:C84675 property_value: exactMatch Orphanet:599 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5658 xsd:anyURI [Term] id: MONDO:0018950 name: 3-methylcrotonyl-CoA carboxylase deficiency def: "3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults." [Orphanet:6] subset: ordo_disease {source="Orphanet:6"} synonym: "3-MCC deficiency" EXACT [NCIT:C98674] synonym: "3-methylcrotonyl-CoA carboxylase deficiency" EXACT [] synonym: "3-methylcrotonylglycinuria" EXACT [DOID:0050710, Orphanet:6] synonym: "3MCC deficiency" EXACT [DOID:0050710] synonym: "BMCC deficiency" EXACT [DOID:0050710] synonym: "MCC deficiency" EXACT [Orphanet:6] synonym: "MCCD" EXACT ABBREVIATION [Orphanet:6] synonym: "Methylcrotonyl-CoA carboxylase deficiency" EXACT [NCIT:C98674] synonym: "methylcrotonylglycinuria" RELATED [OMIMPS:210200] xref: DOID:0050710 {source="MONDO:equivalentTo"} xref: NCIT:C98674 {source="MONDO:equivalentTo"} xref: OMIMPS:210200 {source="MONDO:equivalentTo"} xref: Orphanet:6 {source="MONDO:equivalentTo"} xref: SCTID:13144005 {source="MONDO:equivalentTo"} xref: UMLS:C0268600 {source="Orphanet:6", source="MONDO:equivalentTo", source="Orphanet:6/e", source="NCIT:C98674"} xref: UMLS:CN239165 {source="MONDO:equivalentTo"} is_a: MONDO:0019215 {source="Orphanet:6"} ! classic organic aciduria property_value: exactMatch DOID:0050710 property_value: exactMatch http://identifiers.org/snomedct/13144005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268600 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239165 property_value: exactMatch https://omim.org/phenotypicSeries/PS210200 property_value: exactMatch NCIT:C98674 property_value: exactMatch Orphanet:6 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0018951 name: distal myopathy with vocal cord weakness def: "Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction." [Orphanet:600] subset: ordo_disease {source="Orphanet:600"} synonym: "distal myopathy 2" RELATED [GARD:0001887] synonym: "MATR3-related distal myopathy" EXACT [Orphanet:600] synonym: "MPD2" RELATED ABBREVIATION [GARD:0001887] synonym: "VCPDM" EXACT ABBREVIATION [Orphanet:600] synonym: "vocal cord and pharyngeal distal myopathy" RELATED [Orphanet:600] xref: Orphanet:600 {source="MONDO:equivalentTo"} xref: UMLS:CN205357 {source="MONDO:equivalentTo"} is_a: MONDO:0016108 {source="Orphanet:600"} ! autosomal dominant distal myopathy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205357 property_value: exactMatch Orphanet:600 [Term] id: MONDO:0018953 name: parietal foramina def: "Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies." [Orphanet:60015] subset: ordo_malformation_syndrome {source="Orphanet:60015"} synonym: "Caitlin marks" EXACT [DOID:0060285] synonym: "catlin marks" EXACT [Orphanet:60015] synonym: "enlarged parietal foramina" EXACT [DOID:0060285] synonym: "fenestrae parietales symmetricae" EXACT [Orphanet:60015] synonym: "foramina parietalia permagna" EXACT [Orphanet:60015] synonym: "hereditary cranium bifidum" EXACT [DOID:0060285, Orphanet:60015] synonym: "parietal foramina" EXACT [] synonym: "symmetric parietal foramina" EXACT [Orphanet:60015] xref: DOID:0060285 {source="MONDO:equivalentTo"} xref: HP:0002697 {source="DOID:0060285", source="MONDO:otherHierarchy"} xref: MESH:C566826 {source="DOID:0060285", source="MONDO:equivalentTo"} xref: OMIMPS:168500 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:60015 {source="DOID:0060285", source="MONDO:equivalentTo"} xref: SCTID:718099006 {source="MONDO:equivalentTo"} is_a: MONDO:0018075 {source="DOID:0060285", source="MESH:C566826/inferred"} ! neural tube defect is_a: MONDO:0018230 {source="MONDO:0019709-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! skeletal dysplasia is_a: MONDO:0020018 {source="Orphanet:60015"} ! cranial malformation property_value: exactMatch DOID:0060285 property_value: exactMatch http://identifiers.org/mesh/C566826 property_value: exactMatch http://identifiers.org/snomedct/718099006 property_value: exactMatch https://omim.org/phenotypicSeries/PS168500 property_value: exactMatch Orphanet:60015 [Term] id: MONDO:0018954 name: Loeys-Dietz syndrome def: "Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum." [Orphanet:60030] subset: clingen subset: ordo_malformation_syndrome {source="Orphanet:60030"} synonym: "aortic aneurysm syndrome due to TGF-beta receptors anomalies" EXACT [Orphanet:60030] synonym: "aortic aneurysm syndrome, Loeys-Dietz type" RELATED [GARD:0010788] synonym: "Loeys-Dietz syndrome" EXACT [] xref: DOID:0050466 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D055947 {source="DOID:0050466", source="MONDO:equivalentTo"} xref: NCIT:C75006 {source="DOID:0050466", source="MONDO:equivalentTo"} xref: OMIMPS:609192 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:60030 {source="DOID:0050466", source="MONDO:equivalentTo"} xref: SCTID:446263001 {source="DOID:0050466", source="MONDO:equivalentTo"} xref: UMLS:C2697932 {source="DOID:0050466", source="MONDO:equivalentTo", source="Orphanet:60030", source="NCIT:C75006"} is_a: EFO:0004264 ! vascular disease is_a: MONDO:0000426 {source="DOID:0050466", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0002254 {source="NCIT:C75006"} ! syndromic disease is_a: MONDO:0017310 {source="Orphanet:60030"} ! Marfan and Marfan-related disorder relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch DOID:0050466 property_value: exactMatch http://identifiers.org/mesh/D055947 property_value: exactMatch http://identifiers.org/snomedct/446263001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2697932 property_value: exactMatch https://omim.org/phenotypicSeries/PS609192 property_value: exactMatch NCIT:C75006 property_value: exactMatch Orphanet:60030 [Term] id: MONDO:0018956 name: idiopathic bronchiectasis def: "Idiopathic bronchiectasis (IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies)." [Orphanet:60033] subset: ordo_disease {source="Orphanet:60033"} xref: Orphanet:60033 {source="MONDO:equivalentTo"} xref: SCTID:233629001 {source="MONDO:equivalentTo"} xref: UMLS:C0339985 {source="Orphanet:60033", source="MONDO:equivalentTo", source="Orphanet:60033/e"} is_a: MONDO:0004822 {source="https://orcid.org/0000-0001-5208-3432"} ! bronchiectasis is_a: MONDO:0700007 ! idiopathic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015510"} ! rare property_value: exactMatch http://identifiers.org/snomedct/233629001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339985 property_value: exactMatch Orphanet:60033 [Term] id: MONDO:0018958 name: nemaline myopathy def: "Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy." [Orphanet:607] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:607"} synonym: "congenital rod disease" RELATED [GARD:0012033] synonym: "NEM" EXACT ABBREVIATION [Orphanet:607] synonym: "nemaline body disease" EXACT [DOID:3191] synonym: "nemaline myopathy" EXACT [] synonym: "nemaline rod disease" RELATED [GARD:0012033] synonym: "nemaline rod myopathy" EXACT [DOID:3191, Orphanet:607] synonym: "NM" EXACT ABBREVIATION [Orphanet:607] synonym: "Rod body disease" RELATED [GARD:0012033] synonym: "rod myopathy" EXACT [DOID:3191] synonym: "Rod-body myopathy" RELATED [GARD:0012033] xref: DOID:3191 {source="MONDO:equivalentTo"} xref: MESH:D017696 {source="MONDO:equivalentTo", source="DOID:3191", source="Orphanet:607", source="Orphanet:607/e"} xref: OMIMPS:161800 {source="MONDO:equivalentTo", source="DOID:3191"} xref: Orphanet:607 {source="MONDO:equivalentTo", source="DOID:3191"} xref: SCTID:75072002 {source="MONDO:equivalentTo", source="DOID:3191"} xref: UMLS:C0206157 {source="MONDO:equivalentTo", source="DOID:3191", source="Orphanet:607", source="Orphanet:607/e"} is_a: MONDO:0002921 {source="DOID:3191", source="MESH:D017696"} ! congenital structural myopathy property_value: exactMatch DOID:3191 property_value: exactMatch http://identifiers.org/mesh/D017696 property_value: exactMatch http://identifiers.org/snomedct/75072002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206157 property_value: exactMatch https://omim.org/phenotypicSeries/PS161800 property_value: exactMatch Orphanet:607 [Term] id: MONDO:0018959 name: potassium-aggravated myotonia def: "Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia." [Orphanet:612] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:612"} synonym: "K+-aggravated myotonia" EXACT [Orphanet:612] synonym: "K-aggravated myotonia" EXACT [Orphanet:612] synonym: "Laryngospasm, Severe Neonatal Episodic" RELATED [OMIM:608390] synonym: "Myotonia Congenita, Acetazolamide-Responsive" RELATED [OMIM:608390] synonym: "Myotonia Congenita, Atypical" RELATED [OMIM:608390] synonym: "myotonia congenita, atypical, acetazolamide-responsive" EXACT [OMIM:608390, OMIM:genemap2] synonym: "Myotonia Fluctuans" RELATED [OMIM:608390] synonym: "Myotonia Permanens" RELATED [OMIM:608390] synonym: "MYOTONIA, POTASSIUM-AGGRAVATED" RELATED [OMIM:608390] synonym: "PAM" EXACT ABBREVIATION [Orphanet:612] synonym: "Potassium aggravated myotonia" EXACT [NCIT:C122788] synonym: "Sodium Channel Muscle Disease" RELATED [OMIM:608390] xref: MESH:C538353 {source="Orphanet:612", source="MONDO:equivalentTo", source="Orphanet:612/e"} xref: NCIT:C122788 {source="MONDO:equivalentTo"} xref: OMIM:608390 {source="Orphanet:612", source="MONDO:equivalentTo", source="Orphanet:612/e"} xref: Orphanet:612 {source="OMIM:608390", source="MONDO:equivalentTo"} xref: SCTID:702355008 {source="MONDO:equivalentTo"} xref: UMLS:C2931826 {source="OMIM:608390", source="Orphanet:612", source="MONDO:equivalentTo", source="Orphanet:612/e", source="NCIT:C122788"} is_a: EFO:1001899 {source="Orphanet:612"} ! muscular channelopathy is_a: MONDO:0016120 {source="Orphanet:612"} ! myotonic syndrome property_value: exactMatch http://identifiers.org/mesh/C538353 property_value: exactMatch http://identifiers.org/snomedct/702355008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931826 property_value: exactMatch https://omim.org/entry/608390 property_value: exactMatch NCIT:C122788 property_value: exactMatch Orphanet:612 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0018960 name: congenital primary megaureter def: "An idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing." [https://orcid.org/0000-0001-5208-3432, Orphanet:617] subset: gard_rare subset: ordo_morphological_anomaly {source="Orphanet:617"} synonym: "CGM" RELATED ABBREVIATION [GARD:0000219] synonym: "congenital giant megaureter" RELATED [GARD:0000219] synonym: "congenital megalo-ureter" RELATED [GARD:0001492] synonym: "congenital primary megalo-ureter" EXACT [Orphanet:617] xref: Orphanet:617 {source="MONDO:equivalentTo"} xref: SCTID:717459000 {source="MONDO:equivalentTo"} is_a: MONDO:0019720 {source="Orphanet:617"} ! non-syndromic renal or urinary tract malformation property_value: exactMatch http://identifiers.org/snomedct/717459000 property_value: exactMatch Orphanet:617 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1492/congenital-megalo-ureter xsd:anyURI {source="GARD:0001492"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/219/congenital-giant-megaureter xsd:anyURI {source="GARD:0000219"} [Term] id: MONDO:0018961 name: familial melanoma def: "Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family." [Orphanet:618] subset: gard_rare subset: ordo_disease {source="Orphanet:618"} synonym: "hereditary melanoma (disease)" EXACT [MONDO:patterns/hereditary] xref: DOID:6846 {source="MONDO:equivalentTo"} xref: NCIT:C8498 {source="DOID:6846", source="MONDO:equivalentTo"} xref: Orphanet:618 {source="MONDO:equivalentTo"} xref: UMLS:C2314896 {source="MONDO:equivalentTo", source="Orphanet:618"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0000756 ! melanoma intersection_of: EFO:0000756 ! melanoma intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch DOID:6846 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2314896 property_value: exactMatch NCIT:C8498 property_value: exactMatch Orphanet:618 property_value: excluded_subClassOf MONDO:0015950 {source="Orphanet:618"} property_value: excluded_subClassOf MONDO:0019300 {source="Orphanet:618"} property_value: excluded_subClassOf MONDO:0020177 {source="Orphanet:618"} [Term] id: MONDO:0018962 name: common mesentery subset: ordo_morphological_anomaly {source="Orphanet:620"} synonym: "universal mesentery" EXACT [Orphanet:620] xref: Orphanet:620 {source="MONDO:equivalentObsolete"} xref: SCTID:52159006 {source="MONDO:equivalentTo"} xref: UMLS:C0266235 {source="MONDO:equivalentTo"} is_a: MONDO:0015211 {source="Orphanet:620"} ! non-syndromic intestinal malformation property_value: exactMatch http://identifiers.org/snomedct/52159006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266235 [Term] id: MONDO:0018963 name: hereditary methemoglobinemia def: "Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present." [NCIT:C98898] subset: ordo_disease {source="Orphanet:621"} synonym: "autosomal recessive methemoglobinemia" EXACT [Orphanet:621] synonym: "congenital methemoglobinemia" EXACT [Orphanet:621] synonym: "hereditary methemoglobinemia" EXACT [MONDO:patterns/hereditary] xref: MESH:C580280 {source="MONDO:equivalentTo"} xref: NCIT:C98898 {source="MONDO:equivalentTo"} xref: Orphanet:621 {source="MONDO:equivalentTo"} xref: SCTID:267550008 {source="MONDO:equivalentTo"} xref: UMLS:C0272087 {source="Orphanet:621", source="MONDO:equivalentTo", source="NCIT:C98898"} is_a: MONDO:0001117 {source="MESH:C580280", source="MONDO:Redundant", source="NCIT:C98898"} ! methemoglobinemia is_a: MONDO:0002280 {source="MONDO:Redundant", source="Orphanet:621", source="Orphanet:621/inferred"} ! anemia is_a: MONDO:0019050 {source="MONDO:Redundant", source="Orphanet:621"} ! inherited hemoglobinopathy intersection_of: MONDO:0001117 ! methemoglobinemia intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/mesh/C580280 property_value: exactMatch http://identifiers.org/snomedct/267550008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272087 property_value: exactMatch NCIT:C98898 property_value: exactMatch Orphanet:621 [Term] id: MONDO:0018964 name: homocystinuria without methylmalonic aciduria def: "Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1)." [Orphanet:622] subset: ordo_disease {source="Orphanet:622"} synonym: "functional methionine synthase deficiency" EXACT [Orphanet:622] synonym: "homocystinuria without methylmalonic aciduria" EXACT [] synonym: "methylcobalamin deficiency" EXACT [Orphanet:622] xref: Orphanet:622 {source="MONDO:equivalentTo"} xref: SCTID:721225009 {source="MONDO:equivalentTo"} xref: UMLS:C4303479 {source="MONDO:equivalentTo"} is_a: EFO:1000017 {source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0004737 {source="https://orcid.org/0000-0001-5208-3432"} ! homocystinuria is_a: MONDO:0016624 ! inherited deficiency anemia is_a: MONDO:0019220 {source="Orphanet:622"} ! inborn disorder of cobalamin metabolism and transport property_value: exactMatch http://identifiers.org/snomedct/721225009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303479 property_value: exactMatch Orphanet:622 [Term] id: MONDO:0018965 name: Alport syndrome def: "A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities." [NCIT:C34842] subset: ordo_disease {source="Orphanet:63"} synonym: "Alport deafness-nephropathy" EXACT [Orphanet:63] synonym: "Alport syndrome" EXACT [] synonym: "Alport's syndrome" EXACT [NCIT:C34842] synonym: "hereditary nephritis" BROAD [DOID:10983, NCIT:C34842] xref: DOID:10983 {source="MONDO:equivalentTo"} xref: ICD10CM:Q87.81 {source="MONDO:equivalentTo"} xref: MedDRA:10001843 {source="Orphanet:63/e", source="Orphanet:63"} xref: MESH:D009394 {source="DOID:10983", source="MONDO:relatedTo", source="Orphanet:63/e", source="Orphanet:63"} xref: NCIT:C34842 {source="MONDO:equivalentTo"} xref: OMIMPS:301050 {source="MONDO:equivalentTo"} xref: Orphanet:63 {source="DOID:10983", source="MONDO:equivalentTo"} xref: UMLS:C1567741 {source="Orphanet:63/e", source="MONDO:equivalentTo", source="NCIT:C34842", source="Orphanet:63"} is_a: EFO:0004128 {source="https://orcid.org/0000-0003-4546-6667"} ! hereditary nephritis is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C34842"} ! syndromic disease is_a: MONDO:0002462 ! glomerulonephritis is_a: MONDO:0019723 {source="Orphanet:63"} ! disease of glomerular basement membrane property_value: closeMatch http://identifiers.org/meddra/10001843 property_value: exactMatch DOID:10983 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1567741 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q87.81 property_value: exactMatch https://omim.org/phenotypicSeries/PS301050 property_value: exactMatch NCIT:C34842 property_value: exactMatch Orphanet:63 property_value: excluded_subClassOf MONDO:0020237 {source="Orphanet:63"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3367 xsd:anyURI [Term] id: MONDO:0018967 name: short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia comment: Editor note: classified as both isolated and syndromic in ORDO subset: ordo_clinical_subtype {source="Orphanet:632"} xref: Orphanet:632 {source="MONDO:equivalentTo"} is_a: MONDO:0001902 ! congenital agammaglobulinemia is_a: MONDO:0010615 {source="Orphanet:632"} ! isolated growth hormone deficiency type III property_value: exactMatch Orphanet:632 property_value: excluded_subClassOf MONDO:0016463 {source="Orphanet:632"} [Term] id: MONDO:0018968 name: iniencephaly def: "Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system." [Orphanet:63259] subset: gard_rare {source="GARD:0010506"} subset: ordo_morphological_anomaly {source="Orphanet:63259"} xref: ICD10CM:Q00.2 {source="Orphanet:63259", source="MONDO:equivalentTo", source="Orphanet:63259/e", source="Orphanet:63259/specific"} xref: ICD9:740.2 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10022034 {source="Orphanet:63259", source="Orphanet:63259/e"} xref: NCIT:C124549 {source="MONDO:equivalentTo"} xref: Orphanet:63259 {source="MONDO:equivalentTo"} xref: SCTID:2438005 {source="MONDO:equivalentTo"} xref: UMLS:C0152234 {source="Orphanet:63259", source="MONDO:equivalentTo", source="Orphanet:63259/e", source="NCIT:C124549"} is_a: MONDO:0017059 {source="Orphanet:63259"} ! neural tube closure defect property_value: closeMatch http://identifiers.org/meddra/10022034 property_value: exactMatch http://identifiers.org/snomedct/2438005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152234 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q00.2 property_value: exactMatch NCIT:C124549 property_value: exactMatch Orphanet:63259 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10506/iniencephaly xsd:anyURI {source="GARD:0010506"} [Term] id: MONDO:0018969 name: craniorachischisis def: "Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system." [Orphanet:63260] subset: ordo_morphological_anomaly {source="Orphanet:63260"} synonym: "cranial rachischisis" EXACT [NCIT:C98907] synonym: "craniorachischisis" EXACT [MONDO:ambiguous] synonym: "craniorachischisis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0030770 {source="MONDO:otherHierarchy"} xref: ICD9:740.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10011321 {source="Orphanet:63260/e", source="Orphanet:63260"} xref: NCIT:C98907 {source="MONDO:equivalentTo"} xref: Orphanet:63260 {source="MONDO:equivalentTo"} xref: SCTID:32219008 {source="MONDO:equivalentTo"} xref: UMLS:C0152426 {source="Orphanet:63260/e", source="MONDO:equivalentTo", source="NCIT:C98907", source="Orphanet:63260"} is_a: MONDO:0002320 {source="NCIT:C98907"} ! congenital nervous system disorder is_a: MONDO:0017059 {source="Orphanet:63260"} ! neural tube closure defect property_value: closeMatch http://identifiers.org/meddra/10011321 property_value: exactMatch http://identifiers.org/snomedct/32219008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152426 property_value: exactMatch NCIT:C98907 property_value: exactMatch Orphanet:63260 property_value: IAO:0000589 "craniorachischisis (disease)" xsd:string [Term] id: MONDO:0018971 name: isolated oxycephaly def: "Isolated oxycephaly is a late-appearing form of nonsyndromic craniosynostosis characterized by premature fusion of both the coronal and sagittal sutures, and, in some cases, of the lambdoid sutures. Compensatory growth in the region of the anterior fontanel results in a pointed or cone-shaped skull." [Orphanet:63440] subset: ordo_morphological_anomaly {source="Orphanet:63440"} synonym: "acrocephaly" EXACT [Orphanet:63440] synonym: "hypsicephaly" EXACT [Orphanet:63440] synonym: "hypsocephaly" EXACT [Orphanet:63440] synonym: "pyrgocephaly" EXACT [Orphanet:63440] synonym: "turricephaly" EXACT [Orphanet:63440] xref: Orphanet:63440 {source="MONDO:equivalentObsolete"} xref: SCTID:48069004 {source="MONDO:equivalentTo"} is_a: MONDO:0015337 {source="Orphanet:63440"} ! isolated craniosynostosis property_value: exactMatch http://identifiers.org/snomedct/48069004 property_value: excluded_subClassOf MONDO:0015368 [Term] id: MONDO:0018973 name: patterned dystrophy of the retinal pigment epithelium subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:63454"} xref: ICD10CM:H35.5 {source="Orphanet:63454/attributed", source="Orphanet:63454/ntbt", source="MONDO:relatedTo", source="Orphanet:63454"} xref: MESH:C536309 {source="Orphanet:63454", source="MONDO:equivalentTo", source="Orphanet:63454/e"} xref: Orphanet:63454 {source="MONDO:equivalentTo"} xref: UMLS:C1868569 {source="Orphanet:63454", source="MONDO:equivalentTo", source="Orphanet:63454/e"} is_a: MONDO:0020242 {source="Orphanet:63454"} ! hereditary macular dystrophy property_value: exactMatch http://identifiers.org/mesh/C536309 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868569 property_value: exactMatch Orphanet:63454 [Term] id: MONDO:0018975 name: neurofibromatosis type 1 def: "A clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." [https://orcid.org/0000-0001-5208-3432, Orphanet:636] subset: ordo_disease {source="Orphanet:636"} synonym: "neurofibromatosis" BROAD [NCIT:C3273] synonym: "neurofibromatosis 1" EXACT [NCIT:C3273] synonym: "neurofibromatosis type 1" EXACT [NCIT:C3273] synonym: "neurofibromatosis type 1 microdeletion syndrome" RELATED [NCIT:C3273] synonym: "neurofibromatosis, peripheral type" RELATED [OMIM:162200] synonym: "neurofibromatosis, type 1" EXACT [MONDO:0008077] synonym: "neurofibromatosis, type I" RELATED [MONDO:Lexical, OMIM:162200] synonym: "NF1" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C3273, OMIM:162200, Orphanet:636] synonym: "Nf1-Microdeletion syndrome" EXACT [DECIPHER:15] synonym: "peripheral neurofibromatosis" EXACT [NCIT:C3273] synonym: "Recklinghausen's disease" RELATED [GARD:0007866] synonym: "type 1 neurofibromatosis" RELATED [GARD:0007866] synonym: "Von Recklinghausen disease" RELATED [NCIT:C3273, OMIM:162200, Orphanet:636] synonym: "von Reklinghausen disease" RELATED [DOID:8712] xref: DECIPHER:15 {source="MONDO:equivalentTo"} xref: DOID:0111253 {source="MONDO:equivalentTo"} xref: ICD9:237.71 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10047712 {source="Orphanet:636", source="Orphanet:636/e"} xref: MESH:C538607 {source="MONDO:equivalentObsolete", source="Orphanet:636/e"} xref: MESH:D009456 {source="DOID:8712", source="Orphanet:636", source="MONDO:equivalentTo", source="Orphanet:636/e"} xref: NCIT:C3273 {source="DOID:8712", source="MONDO:equivalentTo"} xref: OMIM:162200 {source="Orphanet:636/btnt", source="DOID:8712", source="Orphanet:636", source="MONDO:equivalentTo"} xref: Orphanet:636 {source="DOID:8712", source="MONDO:equivalentTo", source="OMIM:162200"} xref: SCTID:92824003 {source="MONDO:equivalentTo"} xref: UMLS:C0027831 {source="DOID:8712", source="NCIT:C3273", source="Orphanet:636", source="MONDO:equivalentTo", source="Orphanet:636/e", source="OMIM:162200"} is_a: EFO:0008514 {source="MESH:D009456", source="NCIT:C3273"} ! neurofibromatosis is_a: EFO:1001502 {source="MONDO:cjm", source="Wikipedia:RASopathy"} ! rasopathy is_a: MONDO:0019755 ! developmental defect during embryogenesis is_a: MONDO:0021635 {source="Wikipedia:Neurocristopathy"} ! neurocristopathy is_a: MONDO:0800089 {source="PMID:31633310"} ! primary bone dysplasia with disorganized development of skeletal components relationship: disease_has_feature MONDO:0019289 {source="Orphanet:636"} ! hyperpigmentation of the skin property_value: closeMatch http://identifiers.org/meddra/10047712 property_value: exactMatch DOID:0111253 property_value: exactMatch http://identifiers.org/mesh/D009456 property_value: exactMatch http://identifiers.org/snomedct/92824003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027831 property_value: exactMatch https://omim.org/entry/162200 property_value: exactMatch NCIT:C3273 property_value: exactMatch Orphanet:636 property_value: excluded_subClassOf MONDO:0005328 property_value: excluded_subClassOf MONDO:0018792 {source="Orphanet:636"} property_value: excluded_subClassOf MONDO:0019300 {source="Orphanet:636"} property_value: excluded_subClassOf MONDO:0021147 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0018980 name: acrofacial dysostosis, Kennedy-Teebi type def: "Acrofacial dysostosis, Kennedy-Teebi type was reported as a new type of acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beakednose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype." [Orphanet:64542] subset: ordo_malformation_syndrome {source="Orphanet:64542"} synonym: "Kennedy-Teebi syndrome" EXACT [Orphanet:64542] xref: Orphanet:64542 {source="MONDO:equivalentTo"} xref: SCTID:720427009 {source="MONDO:equivalentTo"} xref: UMLS:CN205418 {source="MONDO:equivalentTo"} is_a: MONDO:0015334 {source="Orphanet:64542"} ! branchial arch or oral-acral syndrome is_a: MONDO:0018237 {source="Orphanet:64542"} ! acrofacial dysostosis property_value: exactMatch http://identifiers.org/snomedct/720427009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205418 property_value: exactMatch Orphanet:64542 [Term] id: MONDO:0018982 name: Niemann-Pick disease type C def: "NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment." [PMID:21502308] subset: ordo_disease {source="Orphanet:646"} synonym: "NPC" BROAD ABBREVIATION [PMID:21502308] xref: MESH:D052556 {source="Orphanet:646", source="MONDO:equivalentTo", source="Orphanet:646/e"} xref: Orphanet:646 {source="MONDO:equivalentTo"} xref: SCTID:66751000 {source="MONDO:equivalentTo"} is_a: EFO:1000017 ! autosomal recessive disease is_a: EFO:1001380 {source="MESH:D052556", source="MONDO:cjm", source="Orphanet:646"} ! Niemann-Pick disease property_value: exactMatch http://identifiers.org/mesh/D052556 property_value: exactMatch http://identifiers.org/snomedct/66751000 property_value: exactMatch Orphanet:646 property_value: excluded_subClassOf MONDO:0002561 {source="MESH:D052556/inferred", source="Orphanet:646/inferred", source="PMID:21723623"} property_value: excluded_subClassOf MONDO:0017037 {source="Orphanet:646"} property_value: excluded_subClassOf MONDO:0018299 {source="Orphanet:646"} property_value: excluded_subClassOf MONDO:0019058 {source="Orphanet:646"} property_value: excluded_subClassOf MONDO:0019245 {source="MESH:D052556/inferred", source="Orphanet:646", source="PMID:21502308"} property_value: excluded_subClassOf MONDO:0020143 {source="Orphanet:646"} property_value: excluded_subClassOf MONDO:0020244 {source="Orphanet:646"} property_value: excluded_subClassOf MONDO:0020257 {source="Orphanet:646"} [Term] id: MONDO:0018983 name: Tolosa-Hunt syndrome def: "Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others." [Orphanet:64686] subset: gard_rare {source="GARD:0007777"} subset: ordo_disease {source="Orphanet:64686"} synonym: "nonspecific inflammation of the cavernous sinus or superior orbital fissure" RELATED [GARD:0007777] synonym: "painful ophthalmoplegia" EXACT [Orphanet:64686] synonym: "THS" RELATED ABBREVIATION [GARD:0007777] synonym: "Tolosa Hunt syndrome" EXACT [GARD:0007777] synonym: "Tolosa-Hunt syndrome" EXACT [DOID:1278] xref: DOID:1278 {source="MONDO:equivalentTo"} xref: MedDRA:10051526 {source="Orphanet:64686", source="Orphanet:64686/e"} xref: MESH:D020333 {source="Orphanet:64686", source="DOID:1278", source="MONDO:equivalentTo", source="Orphanet:64686/e"} xref: NCIT:C85193 {source="DOID:1278", source="MONDO:equivalentTo"} xref: Orphanet:64686 {source="MONDO:equivalentTo"} xref: SCTID:95794005 {source="DOID:1278", source="MONDO:equivalentTo"} xref: UMLS:C0040381 {source="Orphanet:64686", source="DOID:1278", source="NCIT:C85193", source="MONDO:equivalentTo", source="Orphanet:64686/e"} xref: UMLS:C0392060 {source="Orphanet:64686", source="MONDO:equivalentTo", source="Orphanet:64686/e"} xref: UMLS:CN205421 {source="MONDO:equivalentTo"} is_a: EFO:1001990 {source="DOID:1278"} ! ocular motility disease is_a: MONDO:0002254 {source="NCIT:C85193"} ! syndromic disease is_a: MONDO:0015083 {source="Orphanet:64686"} ! nuclear oculomotor paralysis property_value: closeMatch http://identifiers.org/meddra/10051526 property_value: exactMatch DOID:1278 property_value: exactMatch http://identifiers.org/mesh/D020333 property_value: exactMatch http://identifiers.org/snomedct/95794005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040381 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0392060 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205421 property_value: exactMatch NCIT:C85193 property_value: exactMatch Orphanet:64686 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7777/tolosa-hunt-syndrome xsd:anyURI {source="GARD:0007777"} [Term] id: MONDO:0018988 name: iridocorneal endothelial syndrome def: "Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler syndrome, Cogan-Reese syndrome and essential iris atrophy, affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications" [Orphanet:64734] subset: gard_rare subset: ordo_disease {source="Orphanet:64734"} synonym: "ICE syndrome" EXACT [GARD:0000060, Orphanet:64734] xref: MedDRA:10053678 {source="Orphanet:64734", source="Orphanet:64734/e"} xref: MESH:D057129 {source="MONDO:equivalentTo", source="Orphanet:64734", source="Orphanet:64734/e"} xref: NCIT:C84792 {source="MONDO:equivalentTo"} xref: Orphanet:64734 {source="MONDO:equivalentTo", source="GARD:0000060"} xref: SCTID:129623003 {source="MONDO:equivalentTo"} xref: UMLS:C1096100 {source="MONDO:equivalentTo", source="Orphanet:64734", source="NCIT:C84792", source="Orphanet:64734/e"} xref: UMLS:CN205427 {source="MONDO:equivalentTo"} is_a: MONDO:0020215 {source="https://github.com/monarch-initiative/mondo/issues/2963", source="https://orcid.org/0000-0001-5493-2602"} ! syndromic corneal dystrophy relationship: disease_has_feature MONDO:0005041 {source="GARD:0000060-text", source="MONDO:cjm", source="Orphanet:64734"} ! glaucoma property_value: closeMatch http://identifiers.org/meddra/10053678 property_value: exactMatch http://identifiers.org/mesh/D057129 property_value: exactMatch http://identifiers.org/snomedct/129623003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1096100 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205427 property_value: exactMatch NCIT:C84792 property_value: exactMatch Orphanet:64734 property_value: excluded_subClassOf MONDO:0002254 {source="NCIT:C84792"} property_value: excluded_subClassOf MONDO:0015120 {source="Orphanet:64734"} property_value: excluded_subClassOf MONDO:0020221 {source="Orphanet:64734"} [Term] id: MONDO:0018993 name: Charcot-Marie-Tooth disease type 2 def: "A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell." [DOID:0050539, http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm, PMID:25098539] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:64746"} synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease" EXACT [Orphanet:64746] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2" RELATED [Orphanet:64746] synonym: "Charcot-Marie-Tooth type 2" RELATED [GARD:0012431] synonym: "CMT2" EXACT ABBREVIATION [Orphanet:64746] synonym: "hereditary motor and sensory neuropathy Guadalajara neuronal type" EXACT [DOID:0050539] synonym: "hereditary motor and sensory neuropathy Okinawa type" EXACT [DOID:0050539] synonym: "hereditary motor and sensory neuropathy type 2" EXACT [DOID:0050539, Orphanet:64746] xref: DOID:0050539 {source="MONDO:equivalentTo"} xref: ICD9:356.0 {source="DOID:0050539"} xref: Orphanet:64746 {source="MONDO:equivalentTo", source="DOID:0050539"} xref: SCTID:715665006 {source="MONDO:equivalentTo"} is_a: MONDO:0015626 {source="MONDO:cjm"} ! Charcot-Marie-Tooth disease property_value: exactMatch DOID:0050539 property_value: exactMatch http://identifiers.org/snomedct/715665006 property_value: exactMatch Orphanet:64746 property_value: excluded_subClassOf MONDO:0015360 {source="Orphanet:64746"} [Term] id: MONDO:0018994 name: Charcot-Marie-Tooth disease type X def: "A subtype of Charcot-Marie-Tooth disease with genetic defects on the X chromosome." [https://charcot-marie-toothnews.com/charcot-marie-tooth-type-x-cmtx/, https://www.mda.org/disease/charcot-marie-tooth/types/cmtx] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:64747"} synonym: "CMTX" EXACT ABBREVIATION [Orphanet:64747] synonym: "COWCK" EXACT ABBREVIATION [DOID:0050542] synonym: "X-linked Charcot-Marie-Tooth disease" RELATED [Orphanet:64747] synonym: "X-linked hereditary motor and sensory neuropathy" EXACT [Orphanet:64747] xref: DOID:0050542 {source="MONDO:equivalentTo"} xref: ICD9:356.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:64747 {source="DOID:0050542", source="MONDO:equivalentTo"} xref: SCTID:230552007 {source="MONDO:equivalentTo"} xref: UMLS:CN205436 {source="MONDO:equivalentTo"} is_a: MONDO:0000425 ! X-linked disease is_a: MONDO:0015626 {source="DOID:0050542", source="Orphanet:64747", source="https://orcid.org/0000-0001-5208-3432"} ! Charcot-Marie-Tooth disease property_value: exactMatch DOID:0050542 property_value: exactMatch http://identifiers.org/snomedct/230552007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205436 property_value: exactMatch Orphanet:64747 property_value: excluded_subClassOf MONDO:0015358 {source="Orphanet:64747"} property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:64747"} [Term] id: MONDO:0018995 name: Charcot-Marie-Tooth disease type 4 def: "Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." [Orphanet:64749] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:64749"} synonym: "AR-CMT1" EXACT [Orphanet:64749] synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth" EXACT [Orphanet:64749] synonym: "CMT4" EXACT ABBREVIATION [Orphanet:64749] xref: DOID:0050541 {source="MONDO:equivalentTo"} xref: Orphanet:64749 {source="DOID:0050541", source="MONDO:equivalentTo"} xref: SCTID:715795005 {source="MONDO:equivalentTo"} xref: UMLS:CN043578 {source="MONDO:equivalentTo"} is_a: MONDO:0015361 {source="Orphanet:64749"} ! autosomal recessive hereditary demyelinating motor and sensory neuropathy property_value: exactMatch DOID:0050541 property_value: exactMatch http://identifiers.org/snomedct/715795005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN043578 property_value: exactMatch Orphanet:64749 [Term] id: MONDO:0018996 name: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 def: "A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level." [https://github.com/Orphanet/ORDO/issues/11, Orphanet:64753] comment: See https://github.com/Orphanet/ORDO/issues/11 subset: ordo_disease {source="Orphanet:64753"} synonym: "AOA2" EXACT ABBREVIATION [OMIM:606002, Orphanet:64753] synonym: "ataxia with oculomotor apraxia type 2" EXACT [MONDO:0000438] synonym: "ataxia-ocular apraxia 2" EXACT [OMIM:606002] synonym: "ataxia-oculomotor apraxia 2" EXACT [OMIM:606002] synonym: "ataxia-oculomotor apraxia type 2" EXACT [Orphanet:64753] synonym: "autosomal recessive spinocerebellar ataxia-1" RELATED [GARD:0012860] synonym: "SCAN 2" EXACT [Orphanet:64753] synonym: "SCAN2" EXACT ABBREVIATION [] synonym: "SCAR1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606002, Orphanet:64753] synonym: "spinocerebellar ataxia with axonal neuropathy type 2" EXACT [Orphanet:64753] synonym: "spinocerebellar ataxia, autosomal recessive 1" EXACT [MONDO:Lexical, OMIM:606002] synonym: "spinocerebellar ataxia, autosomal recessive type 1" EXACT [MONDORULE:1, OMIM:606002] xref: DOID:0050755 {source="MONDO:equivalentTo"} xref: MESH:C537308 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: NCIT:C165500 {source="MONDO:equivalentTo"} xref: OMIM:606002 {source="Orphanet:64753", source="Orphanet:64753/btnt", source="MONDO:equivalentTo"} xref: Orphanet:64753 {source="MONDO:equivalentTo"} xref: SCTID:725408001 {source="MONDO:equivalentTo"} xref: UMLS:C1853761 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:606002"} xref: UMLS:CN205441 {source="MONDO:equivalentTo"} is_a: MONDO:0020127 {source="Orphanet:64753"} ! hereditary peripheral neuropathy is_a: MONDO:0020771 {source="OMIM:606002"} ! spinocerebellar ataxia, autosomal recessive, with axonal neuropathy property_value: exactMatch DOID:0050755 property_value: exactMatch http://identifiers.org/mesh/C537308 property_value: exactMatch http://identifiers.org/snomedct/725408001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853761 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205441 property_value: exactMatch https://omim.org/entry/606002 property_value: exactMatch NCIT:C165500 property_value: exactMatch Orphanet:64753 [Term] id: MONDO:0018997 name: Noonan syndrome def: "Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphism and congenital heart defects." [Orphanet:648] subset: clingen subset: ordo_malformation_syndrome {source="Orphanet:648"} synonym: "Noonan syndrome" EXACT [NCIT:C34854] synonym: "Noonan's syndrome" EXACT [NCIT:C34854] synonym: "Noonan-Ehmke syndrome" RELATED [GARD:0010955] synonym: "pseudo-Ullrich-Turner syndrome" RELATED [GARD:0010955] synonym: "Turner's phenotype, karyotype normal" EXACT [DOID:3490] synonym: "Ullrich-Noonan syndrome" RELATED [GARD:0010955] xref: DOID:3490 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10029748 {source="Orphanet:648", source="Orphanet:648/e"} xref: MESH:D009634 {source="MONDO:equivalentTo", source="Orphanet:648", source="DOID:3490", source="Orphanet:648/e"} xref: NCIT:C34854 {source="MONDO:equivalentTo", source="DOID:3490"} xref: OMIMPS:163950 {source="MONDO:equivalentTo", source="DOID:3490"} xref: Orphanet:648 {source="MONDO:equivalentTo", source="DOID:3490"} xref: SCTID:205824006 {source="MONDO:equivalentTo", source="DOID:3490"} xref: UMLS:C0028326 {source="MONDO:equivalentTo", source="Orphanet:648", source="DOID:3490", source="NCIT:C34854", source="Orphanet:648/e"} is_a: MONDO:0015160 {source="Orphanet:648"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0019313 ! lymphatic malformation is_a: MONDO:0019520 {source="MONDO:Redundant", source="Orphanet:648"} ! syndromic lymphedema is_a: MONDO:0020158 {source="MONDO:0020169-obsoleted"} ! eyelids malposition disorder is_a: MONDO:0020167 {source="Orphanet:648"} ! malposition of external canthus is_a: MONDO:0020297 {source="Orphanet:648"} ! Noonan syndrome and Noonan-related syndrome property_value: closeMatch http://identifiers.org/meddra/10029748 property_value: exactMatch DOID:3490 property_value: exactMatch http://identifiers.org/mesh/D009634 property_value: exactMatch http://identifiers.org/snomedct/205824006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0028326 property_value: exactMatch https://omim.org/phenotypicSeries/PS163950 property_value: exactMatch NCIT:C34854 property_value: exactMatch Orphanet:648 property_value: excluded_subClassOf MONDO:0021060 {source="MONDO:cjm", source="Wikipedia:RASopathy"} [Term] id: MONDO:0018998 name: Leber congenital amaurosis def: "Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life." [Orphanet:65] subset: ordo_disease {source="Orphanet:65"} synonym: "amaurosis congenita of Leber" EXACT [Orphanet:65] synonym: "congenital absence of the rods and cones" RELATED [GARD:0000634] synonym: "congenital retinal blindness" RELATED [GARD:0000634] synonym: "LCA" EXACT ABBREVIATION [DOID:14791] synonym: "Leber congenital amaurosis" EXACT [] synonym: "Leber's amaurosis" EXACT [DOID:14791] synonym: "Leber's congenital amaurosis" EXACT [DOID:14791] synonym: "Leber's congenital tapetoretinal degeneration" RELATED [GARD:0000634] synonym: "Leber's congenital tapetoretinal dysplasia" RELATED [GARD:0000634] synonym: "Leber's disease" EXACT [DOID:14791] xref: DOID:14791 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.5 {source="Orphanet:65", source="Orphanet:65/index", source="Orphanet:65/ntbt", source="MONDO:directSiblingOf"} xref: MedDRA:10070667 {source="Orphanet:65", source="Orphanet:65/e"} xref: MESH:D057130 {source="Orphanet:65", source="DOID:14791", source="MONDO:equivalentTo", source="Orphanet:65/e"} xref: NCIT:C129075 {source="MONDO:equivalentTo"} xref: OMIMPS:204000 {source="DOID:14791", source="MONDO:equivalentTo"} xref: Orphanet:65 {source="DOID:14791", source="MONDO:equivalentTo"} xref: SCTID:193413001 {source="DOID:14791", source="MONDO:equivalentTo"} xref: UMLS:C0339527 {source="Orphanet:65", source="DOID:14791", source="MONDO:equivalentTo", source="Orphanet:65/e", source="NCIT:C129075"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0019118 {source="Orphanet:65", source="Orphanet:65/inferred"} ! inherited retinal dystrophy is_a: MONDO:0020210 {source="Orphanet:65"} ! syndromic hyperopia is_a: MONDO:0020211 {source="Orphanet:65"} ! syndromic keratoconus property_value: closeMatch http://identifiers.org/meddra/10070667 property_value: exactMatch DOID:14791 property_value: exactMatch http://identifiers.org/mesh/D057130 property_value: exactMatch http://identifiers.org/snomedct/193413001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339527 property_value: exactMatch https://omim.org/phenotypicSeries/PS204000 property_value: exactMatch NCIT:C129075 property_value: exactMatch Orphanet:65 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0018999 name: LCAT deficiency def: "LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." [Orphanet:650] subset: ordo_disease {source="Orphanet:650"} synonym: "lecithin-cholesterol acyltransferase deficiency" EXACT [Orphanet:650] xref: Orphanet:650 {source="MONDO:equivalentTo"} xref: SCTID:49227001 {source="MONDO:equivalentTo"} is_a: MONDO:0017773 {source="Orphanet:650"} ! hypoalphalipoproteinemia property_value: exactMatch http://identifiers.org/snomedct/49227001 property_value: exactMatch Orphanet:650 property_value: excluded_subClassOf MONDO:0005328 property_value: excluded_subClassOf MONDO:0019743 {source="Orphanet:650"} [Term] id: MONDO:0019002 name: Lhermitte-Duclos disease def: "Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure." [Orphanet:65285] subset: ordo_disease {source="Orphanet:65285"} synonym: "dysplastic cerebellar gangliocytoma" EXACT [NCIT:C8419] synonym: "dysplastic gangliocytoma of cerebellum" EXACT [NCIT:C8419] synonym: "dysplastic gangliocytoma of the cerebellum" EXACT [Orphanet:65285] synonym: "LDD" EXACT ABBREVIATION [Orphanet:65285] xref: ICDO:9493/0 {source="NCIT:C8419"} xref: NCIT:C8419 {source="MONDO:equivalentTo"} xref: Orphanet:65285 {source="MONDO:equivalentTo"} xref: UMLS:C0391826 {source="Orphanet:65285/e", source="MONDO:equivalentTo", source="NCIT:C8419", source="Orphanet:65285"} is_a: MONDO:0016729 {source="NCIT:C8419/inferred", source="Orphanet:65285"} ! mixed neuronal-glial tumor is_a: MONDO:0020022 ! central nervous system malformation relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0391826 property_value: exactMatch NCIT:C8419 property_value: exactMatch Orphanet:65285 [Term] id: MONDO:0019003 name: multiple endocrine neoplasia type 2 def: "Multiple endocrine neoplasia type 2 (MEN2) is a multiple endocrine neoplasia, a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC), in one variant, primary hyperparathyroidism (PHPT). There are three forms: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC)." [Orphanet:653] subset: gard_rare {source="GARD:0003830"} subset: ordo_disease {source="Orphanet:653"} synonym: "MEN2" EXACT ABBREVIATION [Orphanet:653] synonym: "multiple endocrine neoplasia type 2" EXACT [NCIT:C123329] xref: ICD9:194.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:258.02 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10028191 {source="Orphanet:653", source="Orphanet:653/e"} xref: NCIT:C123329 {source="MONDO:equivalentTo"} xref: Orphanet:653 {source="MONDO:equivalentTo"} xref: SCTID:61808009 {source="MONDO:equivalentTo"} xref: UMLS:C4048306 {source="NCIT:C123329", source="MONDO:equivalentTo"} xref: UMLS:CN073359 {source="MONDO:equivalentTo"} is_a: EFO:0002892 {source="MONDO:Entailed", source="Orphanet:653"} ! thyroid carcinoma is_a: MONDO:0017169 {source="NCIT:C123329", source="Orphanet:653"} ! multiple endocrine neoplasia is_a: MONDO:0018538 {source="Orphanet:653"} ! inherited digestive cancer-predisposing syndrome property_value: closeMatch http://identifiers.org/meddra/10028191 property_value: exactMatch http://identifiers.org/snomedct/61808009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4048306 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN073359 property_value: exactMatch NCIT:C123329 property_value: exactMatch Orphanet:653 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3830/multiple-endocrine-neoplasia-type-2 xsd:anyURI {source="GARD:0003830"} [Term] id: MONDO:0019004 name: kidney Wilms tumor def: "An embryonal pediatric tumor of the kidney which may also be seen rarely in adults. The peak incidence of Wilms tumor is between the second and fifth year of life. Microscopically, it is composed of a mixture of cellular elements (blastemal, stromal, and epithelial). The most common sites of metastasis include the regional lymph nodes, lungs, and liver." [NCIT:C40407] subset: ordo_disease {source="Orphanet:654"} synonym: "adult nephroblastoma" NARROW [DOID:2154] synonym: "adult renal Wilms' tumour" NARROW OMO:0003005 [] synonym: "childhood renal Wilms tumor" NARROW [DOID:2154] synonym: "childhood renal Wilms tumour" NARROW OMO:0003005 [] synonym: "childhood renal Wilms' cancer" NARROW [DOID:2154] synonym: "embryonal nephroma" NARROW [NCIT:C40407] synonym: "kidney Wilms tumor" EXACT [NCIT:C40407] synonym: "nephroblastoma" EXACT [NCIT:C40407] synonym: "nephroblastoma, malignant" EXACT [NCIT:C40407] synonym: "nonanaplastic renal Wilm's tumor" NARROW [DOID:5176] synonym: "nonanaplastic renal Wilm's tumour" NARROW OMO:0003005 [] synonym: "renal embryonic tumor" EXACT [Orphanet:654] synonym: "renal embryonic tumour" EXACT OMO:0003005 [] synonym: "renal Wilms tumor" EXACT [NCIT:C40407] synonym: "renal Wilms tumour" EXACT OMO:0003005 [] synonym: "renal Wilms' tumor" EXACT [NCIT:C40407] synonym: "renal Wilms' tumour" EXACT OMO:0003005 [] synonym: "Wilms tumor" BROAD [Orphanet:654] synonym: "Wilms tumor of the kidney" EXACT [NCIT:C40407] synonym: "Wilms tumour" BROAD OMO:0003005 [] synonym: "Wilms tumour of the kidney" EXACT OMO:0003005 [] synonym: "Wilms' tumor" BROAD [NCIT:C40407] synonym: "Wilms' tumor of the kidney" EXACT [NCIT:C40407] synonym: "Wilms' tumour" BROAD OMO:0003005 [] synonym: "Wilms' tumour of the kidney" EXACT OMO:0003005 [] xref: DOID:2154 {source="MONDO:equivalentTo"} xref: DOID:5176 {source="MONDO:equivalentTo"} xref: ICDO:8960/3 {source="NCIT:C40407"} xref: MedDRA:10029145 {source="Orphanet:654", source="Orphanet:654/e"} xref: NCIT:C40407 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: ONCOTREE:WT {source="MONDO:equivalentTo"} xref: Orphanet:654 {source="MONDO:equivalentTo"} xref: SCTID:302849000 {source="MONDO:equivalentTo"} xref: UMLS:C0027708 {source="Orphanet:654", source="NCIT:C40407", source="MONDO:equivalentTo", source="Orphanet:654/e"} is_a: MONDO:0002367 ! kidney cancer is_a: MONDO:0006058 {source="NCIT:C40407"} ! Wilms tumor relationship: has_characteristic MONDO:0021136 {source="MONDO:0019749"} ! rare property_value: closeMatch http://identifiers.org/meddra/10029145 property_value: exactMatch DOID:2154 property_value: exactMatch DOID:5176 property_value: exactMatch http://identifiers.org/snomedct/302849000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027708 property_value: exactMatch NCIT:C40407 property_value: exactMatch Orphanet:654 property_value: excluded_subClassOf MONDO:0015963 {source="Orphanet:654"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5537 xsd:anyURI [Term] id: MONDO:0019005 name: nephronophthisis def: "Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure." [NCIT:P378] subset: gard_rare subset: ordo_disease {source="Orphanet:655"} synonym: "medullary cystic disease" EXACT [DOID:12712] synonym: "medullary cystic kidney" EXACT [DOID:12712, ICD9CM:753.16] synonym: "nephronophthisis" EXACT [MONDO:ambiguous] synonym: "nephronophthisis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:12712 {source="MONDO:equivalentTo"} xref: HP:0000090 {source="MONDO:otherHierarchy"} xref: NCIT:C123200 {source="DOID:12712", source="MONDO:equivalentTo"} xref: OMIMPS:256100 {source="DOID:12712", source="MONDO:equivalentTo"} xref: Orphanet:655 {source="DOID:12712", source="MONDO:equivalentTo", source="GARD:0000206"} xref: UMLS:C0687120 {source="DOID:12712", source="Orphanet:655", source="MONDO:equivalentTo", source="NCIT:C123200"} xref: UMLS:C2939174 {source="MONDO:equivalentTo"} is_a: EFO:1000017 {source="DOID:12712", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015962 {source="Orphanet:655"} ! inherited renal tubular disease property_value: exactMatch DOID:12712 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0687120 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2939174 property_value: exactMatch https://omim.org/phenotypicSeries/PS256100 property_value: exactMatch NCIT:C123200 property_value: exactMatch Orphanet:655 property_value: IAO:0000589 "nephronophthisis (disease)" xsd:string [Term] id: MONDO:0019006 name: familial idiopathic steroid-resistant nephrotic syndrome def: "Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset." [Orphanet:656] subset: ordo_disease {source="Orphanet:656"} synonym: "familial idiopathic nephrotic syndrome" EXACT [Orphanet:656] xref: Orphanet:656 {source="MONDO:equivalentTo"} xref: SCTID:718141008 {source="MONDO:equivalentTo"} xref: UMLS:C1868672 {source="Orphanet:656", source="MONDO:equivalentTo"} xref: UMLS:C4273714 {source="MONDO:equivalentTo"} xref: UMLS:CN536255 {source="MONDO:equivalentTo"} is_a: MONDO:0002350 ! familial nephrotic syndrome is_a: MONDO:0018170 {source="MONDO:Redundant", source="Orphanet:656"} ! idiopathic nephrotic syndrome is_a: MONDO:0044765 ! steroid-resistant nephrotic syndrome intersection_of: MONDO:0018170 ! idiopathic nephrotic syndrome intersection_of: MONDO:0044765 ! steroid-resistant nephrotic syndrome intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/snomedct/718141008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868672 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4273714 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN536255 property_value: exactMatch Orphanet:656 [Term] id: MONDO:0019008 name: benign recurrent intrahepatic cholestasis def: "Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC)." [Orphanet:65682] subset: gard_rare {source="GARD:0012185"} subset: ordo_disease {source="Orphanet:65682"} synonym: "Bric" EXACT [Orphanet:65682] synonym: "cholestasis, benign recurrent intrahepatic" EXACT [OMIMPS:243300] synonym: "Summerskill-Walshe-Tygstrup syndrome" EXACT [Orphanet:65682] xref: DOID:0070230 {source="MONDO:equivalentTo"} xref: OMIMPS:243300 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:65682 {source="MONDO:equivalentTo"} xref: SCTID:31155007 {source="MONDO:equivalentTo"} xref: UMLS:C0149841 {source="Orphanet:65682/e", source="MONDO:equivalentTo", source="Orphanet:65682"} is_a: MONDO:0017290 {source="MONDO:Redundant", source="Orphanet:65682"} ! familial intrahepatic cholestasis is_a: MONDO:0017755 {source="Orphanet:65682"} ! inborn disorder of bilirubin metabolism property_value: exactMatch DOID:0070230 property_value: exactMatch http://identifiers.org/snomedct/31155007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149841 property_value: exactMatch https://omim.org/phenotypicSeries/PS243300 property_value: exactMatch Orphanet:65682 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12185/benign-recurrent-intrahepatic-cholestasis xsd:anyURI {source="GARD:0012185"} [Term] id: MONDO:0019009 name: isolated focal cortical dysplasia def: "Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or gray matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated." [Orphanet:65683] subset: ordo_disease {source="Orphanet:65683"} synonym: "epilepsy due to FCD" EXACT [Orphanet:65683] xref: Orphanet:65683 {source="MONDO:equivalentTo"} xref: SCTID:766710005 {source="MONDO:equivalentTo"} is_a: MONDO:0017094 {source="Orphanet:65683"} ! cerebral cortical dysplasia is_a: MONDO:0100283 {source="https://clinicalgenome.org/affiliation/40020/", source="https://github.com/monarch-initiative/mondo/issues/2547"} ! overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes property_value: exactMatch http://identifiers.org/snomedct/766710005 property_value: exactMatch Orphanet:65683 [Term] id: MONDO:0019010 name: congenital isolated hyperinsulinism def: "Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism." [Orphanet:657] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:657"} synonym: "chi" EXACT [Orphanet:657] synonym: "congenital hyperinsulinism" RELATED [GARD:0003947] synonym: "hyperinsulinemic hypoglycemia familial" RELATED [GARD:0003947] synonym: "hyperinsulinism congenital" RELATED [GARD:0003947] synonym: "hyperinsulinism familial with pancreatic nesidioblastosis" RELATED [GARD:0003947] synonym: "hypoglycemia hyperinsulinemic of infancy" RELATED [GARD:0003947] synonym: "persistent hyperinsulinemic hypoglycemia of infancy" EXACT [Orphanet:657] synonym: "PHHI" EXACT ABBREVIATION [Orphanet:657] xref: NCIT:C122923 {source="MONDO:equivalentTo"} xref: Orphanet:657 {source="MONDO:equivalentTo"} is_a: MONDO:0007834 {source="NCIT:C122923"} ! islet cell adenomatosis is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0017182 {source="Orphanet:657"} ! familial hyperinsulinism is_a: MONDO:0019716 {source="Orphanet:657"} ! overgrowth syndrome property_value: exactMatch NCIT:C122923 property_value: exactMatch Orphanet:657 [Term] id: MONDO:0019011 name: Charcot-Marie-Tooth disease type 1 def: "Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity." [Orphanet:65753] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:65753"} synonym: "autosomal dominant demyelinating Charcot-Marie-Tooth disease" EXACT [Orphanet:65753] synonym: "Charcot-Marie-Tooth neuropathy type 1" EXACT [Orphanet:65753] synonym: "Charcot-Marie-Tooth type 1" RELATED [GARD:0012433] synonym: "CMT1" EXACT ABBREVIATION [Orphanet:65753] synonym: "hereditary motor and sensory neuropathy type 1" EXACT [DOID:0050538, Orphanet:65753] xref: DOID:0050538 {source="MONDO:equivalentTo"} xref: Orphanet:65753 {source="MONDO:equivalentTo"} xref: SCTID:398040009 {source="MONDO:equivalentTo"} is_a: MONDO:0015359 {source="Orphanet:65753"} ! autosomal dominant hereditary demyelinating motor and sensory neuropathy property_value: exactMatch DOID:0050538 property_value: exactMatch http://identifiers.org/snomedct/398040009 property_value: exactMatch Orphanet:65753 [Term] id: MONDO:0019012 name: Carpenter syndrome def: "An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation." [NCIT:C98873] subset: ordo_malformation_syndrome {source="Orphanet:65759"} synonym: "ACPS2" EXACT ABBREVIATION [Orphanet:65759] synonym: "acrocephalopolysyndactyly type 2" EXACT [Orphanet:65759] synonym: "acrocephalopolysyndactyly type II" EXACT [DOID:0060234, NCIT:C98873] synonym: "acrocephalosyndactyly, type II" RELATED [GARD:0006003] synonym: "Carpenter 's syndrome" EXACT [NCIT:C98873] synonym: "Carpenter syndrome" EXACT [NCIT:C98873] synonym: "type II Acrocephalopolysyndactyly" EXACT [NCIT:C98873] xref: DOID:0060234 {source="MONDO:equivalentTo"} xref: NCIT:C98873 {source="DOID:0060234", source="MONDO:equivalentTo"} xref: OMIMPS:201000 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:65759 {source="DOID:0060234", source="MONDO:equivalentTo"} xref: SCTID:403767009 {source="DOID:0060234", source="MONDO:equivalentTo"} xref: SCTID:83728000 {source="MONDO:relatedTo", source="DOID:0060234"} xref: UMLS:C1275078 {source="DOID:0060234", source="MONDO:equivalentTo", source="Orphanet:65759", source="Orphanet:65759/e"} xref: UMLS:CN229565 {source="MONDO:equivalentTo"} is_a: MONDO:0000078 {source="Wikipedia:Carpenter_syndrome"} ! acrocephalopolysyndactyly is_a: MONDO:0015160 {source="Orphanet:65759"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0016565 {source="Orphanet:65759"} ! syndromic genetic obesity property_value: exactMatch DOID:0060234 property_value: exactMatch http://identifiers.org/snomedct/403767009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275078 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229565 property_value: exactMatch https://omim.org/phenotypicSeries/PS201000 property_value: exactMatch NCIT:C98873 property_value: exactMatch Orphanet:65759 [Term] id: MONDO:0019014 name: obsolete mutilating palmoplantar keratoderma with periorificial keratotic plaques comment: Split this term to create new OMIMPS and child. property_value: IAO:0000231 IAO:0000229 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2758 xsd:anyURI is_obsolete: true replaced_by: MONDO:0100296 [Term] id: MONDO:0019016 name: maternally-inherited progressive external ophthalmoplegia subset: ordo_disease {source="Orphanet:663"} synonym: "maternally-inherited chronic progressive external ophthalmoplegia" EXACT [Orphanet:663] synonym: "maternally-inherited CPEO" EXACT [Orphanet:663] xref: ICD10CM:H49.4 {source="Orphanet:663/specific", source="Orphanet:663/e", source="MONDO:directSiblingOf", source="Orphanet:663"} xref: Orphanet:663 {source="MONDO:equivalentTo"} xref: UMLS:CN924917 {source="MONDO:equivalentTo"} is_a: MONDO:0009637 {source="Orphanet:663"} ! inborn mitochondrial myopathy is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0020158 {source="MONDO:0020169-obsoleted"} ! eyelids malposition disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN924917 property_value: exactMatch Orphanet:663 property_value: excluded_subClassOf MONDO:0015368 [Term] id: MONDO:0019017 name: short fifth metacarpals-insulin resistance syndrome def: "A syndrome is characterized by bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant." [https://orcid.org/0000-0001-5208-3432, Orphanet:66518] subset: ordo_disease {source="Orphanet:66518"} xref: Orphanet:66518 {source="MONDO:equivalentTo"} xref: UMLS:CN205478 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205478 property_value: exactMatch Orphanet:66518 property_value: excluded_subClassOf MONDO:0005015 {source="MONDO:0015885-obsoleted"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5723 xsd:anyURI [Term] id: MONDO:0019019 name: osteogenesis imperfecta def: "Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity." [Orphanet:666] subset: gard_rare {source="GARD:0001017"} subset: ordo_disease {source="Orphanet:666"} synonym: "brittle bone disease" EXACT [DOID:12347, Orphanet:666] synonym: "Fragilitas ossium" RELATED [DOID:12347] synonym: "glass bone disease" EXACT [Orphanet:666] synonym: "Lobstein disease" EXACT [Orphanet:666] synonym: "Lobstein's syndrome" EXACT [DOID:12347] synonym: "OI" EXACT ABBREVIATION [Orphanet:666] synonym: "Osteopsathyrosis" EXACT [DOID:12347, Orphanet:666] synonym: "Porak and Durante disease" EXACT [Orphanet:666] synonym: "Vrolik disease" RELATED [GARD:0001017] synonym: "Vrolik's disease" EXACT [DOID:12347] xref: DOID:12347 {source="MONDO:equivalentTo"} xref: ICD10CM:Q78.0 {source="DOID:12347", source="Orphanet:666", source="MONDO:equivalentTo", source="Orphanet:666/e", source="Orphanet:666/specific"} xref: ICD9:756.51 {source="DOID:12347", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10031243 {source="Orphanet:666", source="Orphanet:666/e"} xref: MESH:D010013 {source="DOID:12347", source="Orphanet:666", source="MONDO:equivalentTo", source="Orphanet:666/e"} xref: NCIT:C26837 {source="DOID:12347", source="MONDO:equivalentTo"} xref: OMIMPS:166200 {source="DOID:12347", source="MONDO:equivalentTo"} xref: Orphanet:666 {source="DOID:12347", source="MONDO:equivalentTo"} xref: SCTID:78314001 {source="DOID:12347", source="MONDO:equivalentTo"} xref: UMLS:C0029434 {source="DOID:12347", source="Orphanet:666", source="MONDO:equivalentTo", source="Orphanet:666/e", source="NCIT:C26837"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0005571 {source="DOID:12347", source="MESH:D010013"} ! osteochondrodysplasia property_value: closeMatch http://identifiers.org/meddra/10031243 property_value: exactMatch DOID:12347 property_value: exactMatch http://identifiers.org/mesh/D010013 property_value: exactMatch http://identifiers.org/snomedct/78314001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029434 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q78.0 property_value: exactMatch https://omim.org/phenotypicSeries/PS166200 property_value: exactMatch NCIT:C26837 property_value: exactMatch Orphanet:666 property_value: excluded_subClassOf MONDO:0019704 {source="Orphanet:666"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1017/osteogenesis-imperfecta xsd:anyURI {source="GARD:0001017"} [Term] id: MONDO:0019022 name: sensorineural hearing loss-early graying-essential tremor syndrome def: "Sensorineural hearing loss-early graying-essential tremor syndrome is characterized by the combination of sensorineural hearing loss, early graying of scalp hair and adult onset essential tremor." [Orphanet:66633] subset: ordo_malformation_syndrome {source="Orphanet:66633"} xref: Orphanet:66633 {source="MONDO:equivalentTo"} xref: UMLS:CN205488 {source="MONDO:equivalentTo"} is_a: EFO:0004280 {source="Orphanet:66633"} ! movement disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0017644"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205488 property_value: exactMatch Orphanet:66633 [Term] id: MONDO:0019026 name: autosomal recessive osteopetrosis def: "An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration." [NCIT:C129733] subset: ordo_malformation_syndrome {source="Orphanet:667"} synonym: "autosomal recessive malignant osteopetrosis" EXACT [Orphanet:667] synonym: "autosomal recessive osteopetrosis" EXACT [NCIT:C129733] synonym: "autosomal recessive osteopetrosis (disease)" EXACT [] synonym: "infantile malignant osteopetrosis" EXACT [Orphanet:667] synonym: "malignant osteopetrosis" RELATED [NCIT:C129733] synonym: "OPTB" EXACT ABBREVIATION [] synonym: "osteopetrosis (disease), autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] xref: NCIT:C129733 {source="MONDO:equivalentTo"} xref: OMIMPS:259700 {source="MONDO:equivalentTo"} xref: Orphanet:667 {source="MONDO:equivalentTo"} xref: SCTID:367489004 {source="MONDO:equivalentTo"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0017198 {source="NCIT:C129733", source="Orphanet:667"} ! osteopetrosis is_a: MONDO:0020249 {source="Orphanet:667", source="Orphanet:667/inferred"} ! hereditary optic neuropathy property_value: exactMatch http://identifiers.org/snomedct/367489004 property_value: exactMatch https://omim.org/phenotypicSeries/PS259700 property_value: exactMatch NCIT:C129733 property_value: exactMatch Orphanet:667 [Term] id: MONDO:0019027 name: otopalatodigital syndrome def: "A form of frontootopalatodigital syndrome, characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." [https://orcid.org/0000-0001-5208-3432, Orphanet:669] subset: ordo_malformation_syndrome {source="Orphanet:669"} synonym: "oto-palatal-digital syndrome" EXACT [GARD:0007293] synonym: "oto-palato-digital syndrome" EXACT [] synonym: "type 2 (Andre syndrome)" NARROW [GARD:0007293] xref: Orphanet:669 {source="MONDO:equivalentObsolete"} xref: SCTID:767130007 {source="MONDO:equivalentTo"} xref: UMLS:CN205496 {source="MONDO:equivalentTo"} is_a: MONDO:0018233 {source="Orphanet:669"} ! otopalatodigital syndrome spectrum disorder property_value: exactMatch http://identifiers.org/snomedct/767130007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205496 property_value: excluded_subClassOf MONDO:0015159 {source="Orphanet:669"} property_value: excluded_subClassOf MONDO:0015334 {source="Orphanet:669"} property_value: excluded_subClassOf MONDO:0015501 {source="Orphanet:669"} property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:669"} [Term] id: MONDO:0019031 name: thrombocytopenia with congenital dyserythropoietic anemia def: "Thrombocytopenia with congenital dyserythropoietic anemia (CDA) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia." [Orphanet:67044] subset: ordo_disease {source="Orphanet:67044"} synonym: "congenital dyserythropoietic anaemia with thombocytopenia" EXACT OMO:0003005 [] synonym: "congenital dyserythropoietic anemia with thombocytopenia" EXACT [Orphanet:67044] synonym: "X-linked congenital dyserythropoietic anaemia with thrombocytopenia" EXACT OMO:0003005 [] synonym: "X-linked congenital dyserythropoietic anemia with thrombocytopenia" EXACT [Orphanet:67044] synonym: "XDAT" EXACT ABBREVIATION [Orphanet:67044] xref: Orphanet:67044 {source="MONDO:equivalentTo"} xref: SCTID:722475006 {source="MONDO:equivalentTo"} xref: UMLS:C4302508 {source="MONDO:equivalentTo"} is_a: MONDO:0010308 ! thrombocytopenia, X-linked, with or without dyserythropoietic anemia is_a: MONDO:0016361 {source="Orphanet:67044"} ! isolated hereditary giant platelet disorder is_a: MONDO:0019403 {source="Orphanet:67044"} ! congenital dyserythropoietic anemia is_a: MONDO:0100089 {source="https://github.com/monarch-initiative/mondo/issues/1018"} ! GATA1-Related X-Linked Cytopenia property_value: exactMatch http://identifiers.org/snomedct/722475006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4302508 property_value: exactMatch Orphanet:67044 [Term] id: MONDO:0019032 name: X-linked intellectual disability with isolated growth hormone deficiency subset: ordo_clinical_subtype {source="Orphanet:67045"} synonym: "MRGH" EXACT ABBREVIATION [Orphanet:67045] xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="Orphanet:67045/attributed", source="Orphanet:67045/ntbt", source="Orphanet:67045"} xref: Orphanet:67045 {source="MONDO:equivalentTo"} xref: UMLS:C1848068 {source="MONDO:equivalentTo", source="Orphanet:67045"} is_a: MONDO:0020119 {source="Orphanet:67045", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848068 property_value: exactMatch Orphanet:67045 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0019033 name: primary cutis verticis gyrata def: "Cutis verticis gyrata (CVG) is a progressive cutaneous disorder predominantly affecting males and characterized by hypertrophy and thickening of the skin of the scalp forming convoluted furrows with deep, tender, and cerebriform cutaneous folds. Hair is usually normal in the furrows and sparse on the folds. CG can be isolated (essential CVG) or associated with other abnormalities such as intellectual deficit, epilepsy, cataract, blindness, and deafness (non essential CVG)." [Orphanet:671] subset: disease_grouping subset: gard_rare subset: ordo_group_of_disorders {source="Orphanet:671"} synonym: "cutis verticis gyrata" EXACT [] xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:671 {source="GARD:0001643", source="MONDO:equivalentTo"} xref: SCTID:51603000 {source="MONDO:equivalentTo"} xref: UMLS:C0263417 {source="Orphanet:671/e", source="GARD:0001643", source="MONDO:equivalentTo", source="Orphanet:671"} is_a: MONDO:0021154 {source="Orphanet:671"} ! dermis disorder property_value: exactMatch http://identifiers.org/snomedct/51603000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263417 property_value: exactMatch Orphanet:671 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1643/cutis-verticis-gyrata xsd:anyURI {source="GARD:0001643"} [Term] id: MONDO:0019034 name: accessory pancreas def: "Accessory pancreas is an asymptomatic embryopathy characterized by the presence of pancreatic tissue in other sites of the body such as the splenic pedicle, gonadic pedicles, intestinal mesentery, duodenum wall, upper jejunum, or, more rarely, the gastric wall, ileum, gallbladder or spleen." [Orphanet:674] subset: gard_rare {source="GARD:0000454"} subset: ordo_morphological_anomaly {source="Orphanet:674"} synonym: "pancreas accessorium" RELATED [GARD:0000454] xref: MESH:C536003 {source="Orphanet:674/e", source="MONDO:equivalentTo", source="Orphanet:674"} xref: Orphanet:674 {source="MONDO:equivalentTo"} xref: SCTID:79037006 {source="MONDO:equivalentTo"} is_a: MONDO:0015213 {source="Orphanet:674"} ! non-syndromic visceral malformation property_value: exactMatch http://identifiers.org/mesh/C536003 property_value: exactMatch http://identifiers.org/snomedct/79037006 property_value: exactMatch Orphanet:674 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/454/accessory-pancreas xsd:anyURI {source="GARD:0000454"} [Term] id: MONDO:0019037 name: progressive supranuclear palsy def: "A rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." [https://orcid.org/0000-0001-5208-3432, Orphanet:683] subset: ordo_disease {source="Orphanet:683"} synonym: "familial progressive supranuclear palsy (type)" RELATED [GARD:0007471] synonym: "progressive supranuclear ophthalmoplegia" EXACT [DOID:678] synonym: "PSP syndrome" EXACT [Orphanet:683] synonym: "Steele-Richardson-Olszewski syndrome" NARROW [DOID:678] synonym: "supranuclear palsy, progressive" RELATED [GARD:0007471] xref: DOID:678 {source="MONDO:equivalentTo"} xref: ICD9:333.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10036813 {source="Orphanet:683/e", source="Orphanet:683"} xref: MESH:D013494 {source="Orphanet:683/e", source="DOID:678", source="MONDO:equivalentTo", source="Orphanet:683"} xref: NCIT:C85028 {source="DOID:678", source="MONDO:equivalentTo"} xref: Orphanet:683 {source="DOID:678", source="MONDO:equivalentTo"} xref: SCTID:192976002 {source="DOID:678", source="MONDO:equivalentTo"} xref: SCTID:28978003 {source="DOID:678", source="MONDO:relatedTo"} xref: UMLS:C0038868 {source="Orphanet:683/e", source="DOID:678", source="MONDO:equivalentTo", source="Orphanet:683", source="NCIT:C85028"} xref: UMLS:CN205522 {source="MONDO:equivalentTo"} is_a: EFO:0004280 ! movement disorder is_a: MONDO:0002254 {source="NCIT:C85028"} ! syndromic disease is_a: MONDO:0004884 ! eye degenerative disorder is_a: MONDO:0020257 {source="Orphanet:683"} ! supranuclear oculomotor palsy relationship: disease_arises_from_feature EFO:0005772 ! neurodegenerative disease property_value: closeMatch http://identifiers.org/meddra/10036813 property_value: exactMatch DOID:678 property_value: exactMatch http://identifiers.org/mesh/D013494 property_value: exactMatch http://identifiers.org/snomedct/192976002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038868 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205522 property_value: exactMatch NCIT:C85028 property_value: exactMatch Orphanet:683 property_value: excluded_subClassOf MONDO:0015547 {source="Orphanet:683"} property_value: excluded_subClassOf MONDO:0024237 {source="Orphanet:683"} property_value: relatedMatch http://identifiers.org/snomedct/28978003 [Term] id: MONDO:0019039 name: obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:68334"} synonym: "rare bleeding disorder due to a constitutional coagulation factors defect" EXACT [Orphanet:68334] synonym: "rare coagulopathy due to a constitutional coagulation factors defect" EXACT [Orphanet:68334] xref: Orphanet:68334 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227563 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227563 property_value: exactMatch Orphanet:68334 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true [Term] id: MONDO:0019040 name: chromosomal disorder def: "Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)" [MESH:D025063] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:68335"} subset: rare_grouping synonym: "autosomal chromosome disorder" RELATED [MESH:D025063] synonym: "autosomal chromosome disorders" RELATED [MESH:D025063] synonym: "chromosomal disease" EXACT [MONDO:0000838] synonym: "chromosomal disorder" EXACT [MESH:D025063] synonym: "chromosomal disorders" EXACT [MESH:D025063] synonym: "chromosome abnormality disorder" RELATED [MESH:D025063] synonym: "chromosome abnormality disorders" RELATED [MESH:D025063] synonym: "chromosome disorder" EXACT [MESH:D025063] synonym: "chromosome disorder, autosomal" RELATED [MESH:D025063] synonym: "chromosome disorders, autosomal" RELATED [MESH:D025063] synonym: "disorder, chromosomal" EXACT [MESH:D025063] synonym: "disorder, chromosome" EXACT [MESH:D025063] synonym: "disorder, chromosome abnormality" RELATED [MESH:D025063] synonym: "disorders, chromosomal" EXACT [MESH:D025063] synonym: "disorders, chromosome" EXACT [MESH:D025063] xref: DOID:0080014 {source="MONDO:equivalentTo"} xref: ICD10CM:Q90-Q99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D025063 {source="MONDO:equivalentTo"} xref: NCIT:C34470 {source="MONDO:equivalentTo"} xref: Orphanet:68335 {source="MONDO:equivalentTo"} xref: SCTID:409709004 {source="MONDO:equivalentTo"} is_a: EFO:0000408 ! disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0021198"} ! rare property_value: exactMatch DOID:0080014 property_value: exactMatch http://identifiers.org/mesh/D025063 property_value: exactMatch http://identifiers.org/snomedct/409709004 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q90-Q99 property_value: exactMatch NCIT:C34470 property_value: exactMatch Orphanet:68335 property_value: excluded_subClassOf MONDO:0003847 {source="DOID:0080014", source="MESH:D025063", source="NCIT:C34470", source="Orphanet:68335"} property_value: excluded_subClassOf MONDO:0019755 {source="Orphanet:68335"} [Term] id: MONDO:0019042 name: multiple congenital anomalies/dysmorphic syndrome subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:68341"} synonym: "MCAHS" RELATED ABBREVIATION [MONDO:Lexical] xref: Orphanet:68341 {source="MONDO:equivalentTo"} is_a: MONDO:0019755 {source="Orphanet:68341"} ! developmental defect during embryogenesis relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch Orphanet:68341 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0019044 name: tumor of hematopoietic and lymphoid tissues comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:68347"} xref: Orphanet:68347 {source="MONDO:equivalentTo"} xref: UMLS:CN205528 {source="MONDO:equivalentTo"} is_a: MONDO:0002334 ! hematopoietic and lymphoid system neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205528 property_value: exactMatch Orphanet:68347 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0019046 name: leukodystrophy def: "Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems." [https://rarediseases.org/rare-diseases/leukodystrophy/] comment: Editor note: At this time DO has two classes 'hypomyelinating leukodystrophy' and one 'leukodystrophy' subset: disease_grouping subset: gard_rare {source="GARD:0006895"} subset: merged_class subset: ordo_group_of_disorders {source="Orphanet:68356"} synonym: "HLD" EXACT ABBREVIATION [DOID:0060786] synonym: "hypomyelinating leukodystrophy" EXACT [MONDO:0000825] synonym: "hypomyelinating leukoencephalopathy" RELATED [MONDO:cjm] synonym: "leukodystrophy, hypomyelinating" RELATED [OMIMPS:312080] xref: DOID:0050987 {source="MONDO:equivalentTo"} xref: DOID:0060786 {source="MONDO:equivalentTo"} xref: DOID:10579 {source="MONDO:equivalentTo"} xref: ICD9:330.0 {source="DOID:10579", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10024381 {source="Orphanet:68356/e", source="Orphanet:68356"} xref: NCIT:C61253 {source="DOID:10579", source="MONDO:equivalentTo"} xref: OMIMPS:312080 {source="MONDO:equivalentTo", source="DOID:0060786"} xref: Orphanet:68356 {source="MONDO:equivalentTo"} xref: SCTID:192781003 {source="DOID:10579", source="MONDO:equivalentTo"} xref: UMLS:C0023520 {source="DOID:10579", source="Orphanet:68356/e", source="MONDO:equivalentTo", source="NCIT:C61253", source="Orphanet:68356"} xref: UMLS:CN228461 {source="MONDO:equivalentTo"} is_a: MONDO:0024237 ! inherited neurodegenerative disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0020009"} ! rare property_value: closeMatch http://identifiers.org/meddra/10024381 property_value: exactMatch DOID:0050987 property_value: exactMatch DOID:0060786 property_value: exactMatch DOID:10579 property_value: exactMatch http://identifiers.org/snomedct/192781003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023520 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN228461 property_value: exactMatch https://omim.org/phenotypicSeries/PS312080 property_value: exactMatch NCIT:C61253 property_value: exactMatch Orphanet:68356 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6895/leukodystrophy xsd:anyURI {source="GARD:0006895"} [Term] id: MONDO:0019050 name: inherited hemoglobinopathy def: "An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule." [NCIT:C3092] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:68364"} synonym: "hemoglobinopathies" EXACT [DOID:2860] synonym: "Hemoglobinopathies / iron metabolism" EXACT [NCIT:C3092] synonym: "hemoglobinopathy" RELATED [DOID:2860] synonym: "hereditary hemoglobinopathy" EXACT [MONDO:patterns/hereditary] xref: DOID:2860 {source="MONDO:equivalentTo"} xref: ICD10CM:D58.0 {source="MONDO:relatedTo", source="Orphanet:68364", source="Orphanet:68364/btnt"} xref: ICD10CM:D58.1 {source="MONDO:relatedTo", source="Orphanet:68364", source="Orphanet:68364/btnt"} xref: ICD9:282.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10060892 {source="Orphanet:68364/e", source="Orphanet:68364"} xref: MESH:D006453 {source="Orphanet:68364/e", source="DOID:2860", source="MONDO:equivalentTo", source="Orphanet:68364"} xref: NCIT:C3092 {source="DOID:2860", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: Orphanet:68364 {source="MONDO:equivalentTo"} xref: SCTID:427306008 {source="MONDO:equivalentTo"} xref: UMLS:C0019045 {source="Orphanet:68364/e", source="DOID:2860", source="MONDO:equivalentTo", source="Orphanet:68364", source="NCIT:C3092"} xref: UMLS:C1960031 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0044348 {source="MONDO:Redundant"} ! hemoglobinopathy intersection_of: MONDO:0044348 ! hemoglobinopathy intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: closeMatch http://identifiers.org/meddra/10060892 property_value: exactMatch DOID:2860 property_value: exactMatch http://identifiers.org/mesh/D006453 property_value: exactMatch http://identifiers.org/snomedct/427306008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019045 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1960031 property_value: exactMatch NCIT:C3092 property_value: exactMatch Orphanet:68364 property_value: excluded_subClassOf MONDO:0003689 {source="DOID:2860"} [Term] id: MONDO:0019052 name: inborn errors of metabolism def: "An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function." [https://github.com/monarch-initiative/mondo/issues/1483, MONDO:cjm, NCIT:C34816] comment: Note that the ordo class is specifically for rare diseases, but we broaden to be inclusive of HH1 subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:68367"} synonym: "congenital metabolic disorder" EXACT [NCIT:C34816] synonym: "congenital metabolism disorder" EXACT [NCIT:C34816] synonym: "hereditary metabolic disease" EXACT [MONDO:patterns/hereditary] synonym: "inborn disorders of metabolism" EXACT [https://orcid.org/0000-0001-6330-7526] synonym: "inborn error of metabolism" EXACT [NCIT:C34816] synonym: "inborn errors of metabolism" EXACT [DOID:655, NCIT:C34816] synonym: "inborn metabolic disorder" EXACT [https://orcid.org/0000-0001-6330-7526] synonym: "inborn metabolism disorder" EXACT [DOID:655] synonym: "inherited disorder of metabolism" EXACT [https://orcid.org/0000-0002-0736-9199] synonym: "inherited disorders of metabolism" EXACT [https://orcid.org/0000-0002-0736-9199] synonym: "inherited metabolic disorder" EXACT [MONDO:0003919] synonym: "metabolic hereditary disorder" EXACT [DOID:655] synonym: "rare inborn errors of metabolism" NARROW [Orphanet:68367] synonym: "rare inherited metabolic disorder" NARROW [] synonym: "rare metabolic disease" RELATED [Orphanet:68367] xref: DOID:655 {source="MONDO:equivalentTo"} xref: MedDRA:10058097 {source="Orphanet:68367/e", source="Orphanet:68367"} xref: MedDRA:10062018 {source="Orphanet:68367/e", source="Orphanet:68367"} xref: MESH:D008661 {source="DOID:655", source="Orphanet:68367/e", source="MONDO:equivalentTo", source="Orphanet:68367"} xref: NCIT:C34816 {source="DOID:655", source="MONDO:equivalentTo"} xref: Orphanet:68367 {source="MONDO:equivalentTo"} xref: SCTID:86095007 {source="DOID:655", source="MONDO:equivalentTo"} xref: UMLS:C0025521 {source="DOID:655", source="NCIT:C34816", source="Orphanet:68367/e", source="MONDO:equivalentTo", source="Orphanet:68367"} is_a: EFO:0000508 {source="MESH:D008661", source="MONDO:Redundant", source="Orphanet:68367"} ! genetic disorder is_a: EFO:0000589 {source="DOID:655", source="MESH:D008661", source="MONDO:Redundant", source="NCIT:C34816"} ! metabolic disease intersection_of: EFO:0000589 ! metabolic disease intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: closeMatch http://identifiers.org/meddra/10058097 property_value: closeMatch http://identifiers.org/meddra/10062018 property_value: exactMatch DOID:655 property_value: exactMatch http://identifiers.org/mesh/D008661 property_value: exactMatch http://identifiers.org/snomedct/86095007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025521 property_value: exactMatch NCIT:C34816 property_value: exactMatch Orphanet:68367 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1483 xsd:anyURI [Term] id: MONDO:0019053 name: peroxisomal disease def: "A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, intellectual disability, characteristic facial dysmorphic features, hepatomegaly, and hypotonia." [https://clinicalgenome.org/affiliation/40049/, NCIT:C85005] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:68373"} synonym: "disorder of peroxisomal function" EXACT [NCIT:C85005] synonym: "peroxisomal disease" EXACT [NCIT:C85005] synonym: "peroxisomal disorder" EXACT [DOID:906, ICD9CM:277.86, NCIT:C85005] synonym: "peroxisomal function disorder" EXACT [NCIT:C85005] xref: DOID:906 {source="MONDO:equivalentTo"} xref: ICD9:277.86 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:906"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C85005 {source="MONDO:equivalentTo", source="DOID:906"} xref: Orphanet:68373 {source="MONDO:equivalentTo"} xref: SCTID:238059005 {source="MONDO:equivalentTo", source="DOID:906"} xref: UMLS:C0282528 {source="MONDO:equivalentTo", source="Orphanet:68373", source="DOID:906", source="Orphanet:68373/e", source="NCIT:C85005"} is_a: MONDO:0015653 ! monogenic epilepsy is_a: MONDO:0019052 {source="DOID:906", source="MONDO:Redundant", source="NCIT:C85005", source="Orphanet:68373"} ! inborn errors of metabolism is_a: MONDO:0100033 {source="https://orcid.org/0000-0001-8486-0558"} ! metabolic epilepsy property_value: exactMatch DOID:906 property_value: exactMatch http://identifiers.org/snomedct/238059005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0282528 property_value: exactMatch NCIT:C85005 property_value: exactMatch Orphanet:68373 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5786 xsd:anyURI [Term] id: MONDO:0019054 name: congenital limb malformation comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:68378"} synonym: "congenital limb malformation" EXACT [] xref: Orphanet:68378 {source="MONDO:equivalentTo"} is_a: MONDO:0019755 {source="Orphanet:68378"} ! developmental defect during embryogenesis relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch Orphanet:68378 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0019058 name: obsolete neurometabolic disease subset: ordo_group_of_disorders {source="Orphanet:68385"} xref: Orphanet:68385 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN205539 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205539 property_value: exactMatch Orphanet:68385 property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginProcess"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI is_obsolete: true consider: MONDO:0005071 [Term] id: MONDO:0019063 name: vascular anomaly comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:68419"} synonym: "vascular anomaly or angioma" RELATED [Orphanet:68419] xref: Orphanet:68419 {source="MONDO:equivalentTo"} is_a: EFO:0004264 ! vascular disease property_value: exactMatch Orphanet:68419 property_value: excluded_subClassOf MONDO:0019755 {source="Orphanet:68419"} property_value: excluded_subClassOf MONDO:0020015 {source="Orphanet:68419"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0019064 name: hereditary spastic paraplegia def: "Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs." [Orphanet:685] subset: disease_grouping subset: gard_rare {source="GARD:0006637"} subset: ordo_group_of_disorders {source="Orphanet:685"} synonym: "familial spastic paraparesis" RELATED [GARD:0006637] synonym: "familial spastic paraplegia" EXACT [DOID:2476, Orphanet:685] synonym: "French settlement disease" EXACT [DOID:2476] synonym: "FSP" RELATED ABBREVIATION [GARD:0006637] synonym: "hereditary spastic paraparesis" EXACT [DOID:2476, Orphanet:685] synonym: "HSP" EXACT ABBREVIATION [Orphanet:685] synonym: "spastic paraplegia" BROAD [OMIMPS:303350] synonym: "SPG" EXACT ABBREVIATION [Orphanet:685] synonym: "Strumpell-Lorrain disease" EXACT [DOID:2476] synonym: "Strümpell-Lorrain disease" EXACT [Orphanet:685] xref: DOID:2476 {source="MONDO:equivalentTo"} xref: ICD10CM:G11.4 {source="Orphanet:685/specific", source="Orphanet:685/e", source="DOID:2476", source="MONDO:equivalentTo", source="Orphanet:685"} xref: ICD9:334.1 {source="DOID:2476", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10019903 {source="Orphanet:685/e", source="Orphanet:685"} xref: MESH:D015419 {source="MONDO:equivalentTo"} xref: NCIT:C140267 {source="MONDO:equivalentTo"} xref: OMIMPS:303350 {source="DOID:2476", source="MONDO:equivalentTo"} xref: Orphanet:685 {source="MONDO:equivalentTo"} xref: SCTID:39912006 {source="DOID:2476", source="MONDO:equivalentTo"} is_a: EFO:0009679 {source="DOID:2476"} ! paraplegia is_a: MONDO:0024237 {source="Orphanet:685"} ! inherited neurodegenerative disorder property_value: closeMatch http://identifiers.org/meddra/10019903 property_value: exactMatch DOID:2476 property_value: exactMatch http://identifiers.org/mesh/D015419 property_value: exactMatch http://identifiers.org/snomedct/39912006 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G11.4 property_value: exactMatch https://omim.org/phenotypicSeries/PS303350 property_value: exactMatch NCIT:C140267 property_value: exactMatch Orphanet:685 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6637/hereditary-spastic-paraplegia xsd:anyURI {source="GARD:0006637"} [Term] id: MONDO:0019071 name: pure hair and nail ectodermal dysplasia def: "Pure hair and nail ectodermal dysplasia is characterized by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant." [Orphanet:69084] subset: ordo_malformation_syndrome {source="Orphanet:69084"} synonym: "hair-nail ectodermal dysplasia" EXACT [Orphanet:69084] synonym: "HNED" EXACT ABBREVIATION [Orphanet:69084] synonym: "PHNED" EXACT ABBREVIATION [Orphanet:69084] xref: DOID:0111655 {source="MONDO:equivalentTo"} xref: Orphanet:69084 {source="MONDO:equivalentTo"} is_a: MONDO:0019287 {source="Orphanet:69084"} ! ectodermal dysplasia syndrome property_value: exactMatch DOID:0111655 property_value: exactMatch Orphanet:69084 [Term] id: MONDO:0019072 name: intrahepatic cholestasis def: "A cholestasis characterized by impairment of the bile flow caused by obstruction located in the liver." [DOID:1852, https://orcid.org/0000-0001-5208-3432] subset: ordo_disease {source="Orphanet:69665"} xref: DOID:1852 {source="MONDO:equivalentTo"} xref: MESH:D002780 {source="DOID:1852", source="MONDO:equivalentTo"} xref: SCTID:235888006 {source="MONDO:equivalentTo"} xref: UMLS:C0008372 {source="DOID:1852", source="MONDO:equivalentTo"} is_a: MONDO:0001751 {source="DOID:1852", source="MESH:D002780"} ! cholestasis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015582"} ! rare property_value: exactMatch DOID:1852 property_value: exactMatch http://identifiers.org/mesh/D002780 property_value: exactMatch http://identifiers.org/snomedct/235888006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008372 property_value: excluded_subClassOf MONDO:0015115 {source="EFO:0009048", source="Orphanet:69665"} property_value: excluded_subClassOf MONDO:0024575 {source="Orphanet:69665"} [Term] id: MONDO:0019075 name: Bosley-Salih-Alorainy syndrome def: "Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation." [Orphanet:69737] subset: ordo_malformation_syndrome {source="Orphanet:69737"} synonym: "BSAS" EXACT [OMIM:601536] xref: Orphanet:69737 {source="MONDO:equivalentTo"} is_a: MONDO:0011099 ! human HOXA1 syndromes is_a: MONDO:0015160 {source="Orphanet:69737", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch Orphanet:69737 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5507 xsd:anyURI [Term] id: MONDO:0019078 name: Ritscher-Schinzel syndrome def: "Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies." [Orphanet:7] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:7"} synonym: "3C syndrome" EXACT [DOID:0060565, GARD:0005666] synonym: "CCC dysplasia" EXACT [DOID:0060565, MESH:C535313] synonym: "cranio-cerebello-cardiac dysplasia" RELATED [GARD:0005666] synonym: "Craniocerebellocardiac dysplasia" EXACT [Orphanet:7] synonym: "craniocerebellocardiac dysplasia" EXACT [DOID:0060565] synonym: "Dandy-Walker like malformation with atrioventricular septal defect" RELATED [GARD:0005666] synonym: "Dandy-Walker-like malformation with ASD" RELATED [GARD:0005666] synonym: "Dandy-Walker-like malformation with atrioventricular septal defect" RELATED [MESH:C535313] synonym: "Ritscher Schinzel syndrome" RELATED [GARD:0005666, MESH:C535313] synonym: "Ritscher-Schinzel cranio-cerebello-cardiac syndrome" RELATED [GARD:0005666] synonym: "Ritscher-Schinzel syndrome" EXACT [MESH:C535313, Orphanet:7] xref: DOID:0060565 {source="MONDO:equivalentTo"} xref: MESH:C535313 {source="Orphanet:7", source="DOID:0060565", source="MONDO:equivalentTo", source="Orphanet:7/e"} xref: OMIMPS:220210 {source="DOID:0060565", source="MONDO:equivalentTo"} xref: Orphanet:7 {source="GARD:0005666", source="DOID:0060565", source="MONDO:equivalentTo"} xref: SCTID:718556007 {source="MONDO:equivalentTo"} xref: UMLS:C0796137 {source="Orphanet:7", source="GARD:0005666", source="DOID:0060565", source="MONDO:equivalentTo", source="Orphanet:7/e"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:7"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020022 ! central nervous system malformation relationship: disease_has_feature EFO:1000890 {source="MESH:C535313-modified"} ! Dandy-Walker syndrome relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation property_value: exactMatch DOID:0060565 property_value: exactMatch http://identifiers.org/mesh/C535313 property_value: exactMatch http://identifiers.org/snomedct/718556007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796137 property_value: exactMatch https://omim.org/phenotypicSeries/PS220210 property_value: exactMatch Orphanet:7 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:7"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5666/dandy-walker-like-malformation-with-atrioventricular-septal-defect xsd:anyURI {source="GARD:0005666"} [Term] id: MONDO:0019079 name: proximal spinal muscular atrophy def: "Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." [Orphanet:70] subset: gard_rare {source="GARD:0004531"} subset: ordo_disease {source="Orphanet:70"} synonym: "SMA" EXACT ABBREVIATION [Orphanet:70] xref: EFO:0008929 {source="MONDO:equivalentTo"} xref: Orphanet:70 {source="MONDO:equivalentTo"} xref: UMLS:C4024957 {source="MONDO:equivalentTo"} xref: UMLS:CN205570 {source="MONDO:equivalentTo"} is_a: EFO:0008525 {source="https://orcid.org/0000-0002-2825-0621"} ! spinal muscular atrophy is_a: MONDO:0020127 {source="Orphanet:70"} ! hereditary peripheral neuropathy is_a: MONDO:0024257 ! hereditary motor neuron disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4024957 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205570 property_value: exactMatch Orphanet:70 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4531/proximal-spinal-muscular-atrophy xsd:anyURI {source="GARD:0004531"} [Term] id: MONDO:0019080 name: alopecia totalis def: "Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous." [Orphanet:700] subset: ordo_disease {source="Orphanet:700"} synonym: "alopecia totalis" EXACT [] synonym: "total alopecia areata" RELATED [] xref: ICD9:704.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10001766 {source="Orphanet:700", source="Orphanet:700/e"} xref: Orphanet:700 {source="MONDO:equivalentTo"} xref: SCTID:19754005 {source="MONDO:equivalentTo"} xref: UMLS:C0263504 {source="Orphanet:700", source="MONDO:equivalentTo", source="Orphanet:700/e"} is_a: MONDO:0004907 {source="Orphanet:700"} ! alopecia property_value: closeMatch http://identifiers.org/meddra/10001766 property_value: exactMatch http://identifiers.org/snomedct/19754005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263504 property_value: exactMatch Orphanet:700 [Term] id: MONDO:0019083 name: Leigh syndrome with cardiomyopathy subset: ordo_disease {source="Orphanet:70474"} synonym: "cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency" EXACT [Orphanet:70474] synonym: "cardiomyopathy with myopathy due to COX deficiency" EXACT [Orphanet:70474] synonym: "Leigh disease with myopathy" EXACT [Orphanet:70474] xref: Orphanet:70474 {source="MONDO:equivalentTo"} xref: UMLS:CN205578 {source="MONDO:equivalentTo"} is_a: MONDO:0009723 {source="Orphanet:70474"} ! Leigh syndrome intersection_of: MONDO:0009723 ! Leigh syndrome intersection_of: disease_has_feature EFO:0000318 ! cardiomyopathy relationship: disease_has_feature EFO:0000318 ! cardiomyopathy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205578 property_value: exactMatch Orphanet:70474 [Term] id: MONDO:0019088 name: post-transplant lymphoproliferative disease def: "Post-transplant lymphoproliferative disorder (PTLD) is a polyclonal (benign) or clonal (malignant) proliferation of lymphoid cells that develops as a consequence of immunosuppression in a recipient of a solid organ or bone marrow allograft. PTLDs comprise a spectrum ranging from early, Epstein-Barr virus (EBV)-driven polyclonal lymphoid proliferations to EBV-positive or EBV- negative lymphomas of predominantly B-cell or less often T-cell type. (WHO, 2001)" [NCIT:P378] subset: gard_rare {source="GARD:0009553"} subset: ordo_disease {source="Orphanet:70568"} synonym: "post-transplant lymphoproliferative disorder" EXACT [NCIT:C4727] synonym: "PTLD" EXACT ABBREVIATION [Orphanet:70568] xref: ICDO:9971/1 {source="NCIT:C4727"} xref: MedDRA:10051358 {source="Orphanet:70568/e", source="Orphanet:70568"} xref: NCIT:C4727 {source="MONDO:equivalentTo"} xref: Orphanet:70568 {source="MONDO:equivalentTo"} xref: SCTID:254290004 {source="MONDO:equivalentTo"} xref: UMLS:C0432487 {source="NCIT:C4727", source="Orphanet:70568/e", source="MONDO:equivalentTo", source="Orphanet:70568"} is_a: MONDO:0700220 {source="NCIT:P378", source="https://orcid.org/0000-0001-5208-3432"} ! disease related to transplantation property_value: closeMatch http://identifiers.org/meddra/10051358 property_value: exactMatch http://identifiers.org/snomedct/254290004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432487 property_value: exactMatch NCIT:C4727 property_value: exactMatch Orphanet:70568 property_value: excluded_subClassOf MONDO:0015760 {source="Orphanet:70568"} property_value: excluded_subClassOf MONDO:0017343 {source="Orphanet:70568"} property_value: excluded_subClassOf MONDO:0020083 {source="Orphanet:70568"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9553/post-transplant-lymphoproliferative-disease xsd:anyURI {source="GARD:0009553"} [Term] id: MONDO:0019091 name: bronchopulmonary dysplasia def: "Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring." [Orphanet:70589] subset: gard_rare {source="GARD:0005962"} subset: ordo_malformation_syndrome {source="Orphanet:70589"} synonym: "BPD" EXACT ABBREVIATION [Orphanet:70589] xref: DOID:11650 {source="MONDO:equivalentTo"} xref: MedDRA:10006475 {source="Orphanet:70589", source="Orphanet:70589/e"} xref: MESH:D001997 {source="MONDO:equivalentTo", source="Orphanet:70589", source="Orphanet:70589/e"} xref: NCIT:C90599 {source="MONDO:equivalentTo"} xref: Orphanet:70589 {source="MONDO:equivalentTo"} xref: SCTID:67569000 {source="MONDO:equivalentTo"} xref: UMLS:C0006287 {source="NCIT:C90599", source="MONDO:equivalentTo", source="Orphanet:70589", source="Orphanet:70589/e"} is_a: MONDO:0015221 {source="Orphanet:70589"} ! non-syndromic respiratory or mediastinal malformation is_a: MONDO:0015930 {source="Orphanet:70589"} ! respiratory malformation property_value: closeMatch http://identifiers.org/meddra/10006475 property_value: exactMatch DOID:11650 property_value: exactMatch http://identifiers.org/mesh/D001997 property_value: exactMatch http://identifiers.org/snomedct/67569000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006287 property_value: exactMatch NCIT:C90599 property_value: exactMatch Orphanet:70589 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5962/bronchopulmonary-dysplasia xsd:anyURI {source="GARD:0005962"} [Term] id: MONDO:0019093 name: immunodeficiency due to selective anti-polysaccharide antibody deficiency def: "Immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness (IPR)." [Orphanet:70593] subset: ordo_disease {source="Orphanet:70593"} synonym: "specific antibody deficiency" RELATED [GARD:0011903] xref: Orphanet:70593 {source="MONDO:equivalentTo"} xref: SCTID:234556002 {source="MONDO:equivalentTo"} xref: UMLS:C0398711 {source="MONDO:equivalentTo"} is_a: MONDO:0021094 {source="https://orcid.org/0000-0001-5208-3432"} ! immunodeficiency disease property_value: exactMatch http://identifiers.org/snomedct/234556002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398711 property_value: exactMatch Orphanet:70593 [Term] id: MONDO:0019097 name: obsolete hemorrhagic disorder due to a constitutional platelet anomaly def: "OBSOLETE. A hemorrhagic disorder due to a platelet anomaly which occurs from birth." [https://orcid.org/0000-0001-5208-3432] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:71202"} synonym: "rare bleeding disorder due to a constitutional platelet anomaly" EXACT [Orphanet:71202] synonym: "rare bleeding disorder due to a constitutional thrombopathy and/or thrombocytopenia" EXACT [Orphanet:71202] synonym: "rare coagulopathy due to a constitutional platelet anomaly" EXACT [Orphanet:71202] synonym: "rare coagulopathy due to a constitutional thrombopathy and/or thrombocytopenia" EXACT [Orphanet:71202] synonym: "rare hemorrhagic disorder due to a constitutional platelet anomaly" EXACT [Orphanet:71202] synonym: "rare hemorrhagic disorder due to a constitutional thrombopathy and/or thrombocytopenia" EXACT [Orphanet:71202] xref: Orphanet:71202 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227572 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227572 property_value: exactMatch Orphanet:71202 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true [Term] id: MONDO:0019098 name: autoimmune thrombocytopenia def: "An autoimmune form of thrombocytopenia." [MONDO:patterns/autoimmune] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:71203"} xref: MedDRA:10050245 {source="Orphanet:71203", source="Orphanet:71203/e"} xref: Orphanet:71203 {source="MONDO:equivalentTo"} xref: SCTID:128091003 {source="MONDO:equivalentTo"} xref: UMLS:C0242584 {source="MONDO:equivalentTo", source="Orphanet:71203", source="Orphanet:71203/e"} is_a: EFO:0005809 {source="MONDO:Redundant", source="MONDO:cjm"} ! type II hypersensitivity reaction disease is_a: MONDO:0002245 ! blood platelet disease property_value: closeMatch http://identifiers.org/meddra/10050245 property_value: exactMatch http://identifiers.org/snomedct/128091003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242584 property_value: exactMatch Orphanet:71203 [Term] id: MONDO:0019101 name: retinal capillary malformation def: "Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles." [Orphanet:71213] subset: ordo_disease {source="Orphanet:71213"} xref: Orphanet:71213 {source="MONDO:equivalentTo"} xref: UMLS:C0730304 {source="MONDO:relatedTo", source="Orphanet:71213", source="Orphanet:71213/e"} is_a: EFO:1000509 ! Retinal Neoplasm is_a: MONDO:0015145 {source="Orphanet:71213"} ! neurovascular malformation is_a: MONDO:0020247 {source="Orphanet:71213"} ! congenital vitreoretinal dysplasia is_a: MONDO:0021581 ! connective tissue neoplasm is_a: MONDO:0023603 ! hereditary disorder of connective tissue is_a: MONDO:0024296 {source="Orphanet:71213"} ! vascular neoplasm property_value: exactMatch Orphanet:71213 [Term] id: MONDO:0019102 name: dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome def: "Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome is characterized by the association of dentinogenesis imperfecta, delayed tooth eruption, facial dysmorphology, small stature, sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to consanguineous parents. Transmission is autosomal recessive." [Orphanet:71267] subset: ordo_malformation_syndrome {source="Orphanet:71267"} xref: Orphanet:71267 {source="MONDO:equivalentTo"} xref: SCTID:721089006 {source="MONDO:equivalentTo"} xref: UMLS:CN205609 {source="MONDO:equivalentTo"} is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:71267", source="Orphanet:71267/inferred"} ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/snomedct/721089006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205609 property_value: exactMatch Orphanet:71267 [Term] id: MONDO:0019107 name: Rh deficiency syndrome def: "The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens. The Rh antigens maintain the integrity of the RBC membrane and therefore, RBCs which lack Rh antigens have an abnormal shape. There are two types of Rh deficiency syndrome: The regulator type is associated with many different changes (mutations) in the RHAG gene. The amorph type is caused by inactive copies of a gene (silent alleles) at the RH locus. As a result, the RBCs do not express any of the Rh antigens. The absence of the Rh complex alters the RBC shape, increases its tendency to break down (osmotic fragility), and shortens its lifespan, resulting in a hemolytic anemia that is usually mild. These patients are at risk of having adverse transfusion reactions because they may produce antibodies against several of the Rh antigens and can only receive blood from people who have the same condition. Rh deficiency syndrome is inherited in an autosomal recessive manner. Management is individualized according to the severity of hemolytic anemia." [https://rarediseases.info.nih.gov/diseases/12916/rh-deficiency-syndrome] subset: gard_rare {source="GARD:0012916"} subset: ordo_disease {source="Orphanet:71275"} synonym: "anemia, hemolytic, Rh-null, regulator type" EXACT [OMIM:268150, OMIM:genemap2] synonym: "Rh deficiency syndrome" EXACT [OMIM:268150] synonym: "Rh-Mod" RELATED [OMIM:268150] synonym: "Rh-null disease" RELATED [OMIM:268150] synonym: "Rh-null disease, regulator type" RELATED [OMIM:268150] synonym: "Rh-null hemolytic Anemia, regulator type" RELATED [OMIM:268150] synonym: "Rh-null syndrome" EXACT [Orphanet:71275] synonym: "RH-null, regulator type" RELATED [MONDO:Lexical, OMIM:268150] synonym: "RHN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:268150] synonym: "RHNR" RELATED ABBREVIATION [OMIM:268150] xref: DOID:0050641 {source="MONDO:equivalentTo"} xref: MESH:C562717 {source="MONDO:equivalentTo"} xref: OMIM:268150 {source="DOID:0050641", source="Orphanet:71275/ntbt", source="Orphanet:71275", source="MONDO:equivalentTo"} xref: Orphanet:71275 {source="MONDO:equivalentTo", source="OMIM:268150"} xref: SCTID:37272000 {source="MONDO:equivalentTo"} xref: UMLS:C0272052 {source="Orphanet:71275", source="MONDO:equivalentTo", source="Orphanet:71275/e", source="OMIM:268150"} xref: UMLS:C1849387 {source="Orphanet:71275", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:268150"} is_a: MONDO:0020102 {source="Orphanet:71275"} ! hereditary stomatocytosis property_value: exactMatch DOID:0050641 property_value: exactMatch http://identifiers.org/mesh/C562717 property_value: exactMatch http://identifiers.org/snomedct/37272000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272052 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849387 property_value: exactMatch https://omim.org/entry/268150 property_value: exactMatch Orphanet:71275 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12916/rh-deficiency-syndrome xsd:anyURI {source="GARD:0012916"} [Term] id: MONDO:0019111 name: familial thrombocytosis def: "Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation." [https://github.com/monarch-initiative/mondo/issues/230, Orphanet:71493] subset: ordo_disease {source="Orphanet:71493"} synonym: "familial thrombocythemia" EXACT [Orphanet:71493] synonym: "hereditary thrombocythemia" EXACT [Orphanet:71493] synonym: "hereditary thrombocytosis" EXACT [MONDO:patterns/hereditary] synonym: "hereditary thrombocytosis disease" EXACT [MONDO:patterns/hereditary] synonym: "THCYT" EXACT ABBREVIATION [MONDO:cjm] synonym: "thrombocythemia" RELATED [OMIMPS:187950] xref: OMIMPS:187950 {source="MONDO:equivalentTo"} xref: Orphanet:71493 {source="MONDO:equivalentTo"} xref: SCTID:720950009 {source="MONDO:equivalentTo"} xref: UMLS:CN205627 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0002249 {source="MONDO:Redundant"} ! thrombocytosis disease intersection_of: MONDO:0002249 ! thrombocytosis disease intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/snomedct/720950009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205627 property_value: exactMatch https://omim.org/phenotypicSeries/PS187950 property_value: exactMatch Orphanet:71493 [Term] id: MONDO:0019112 name: cancer-associated retinopathy def: "Cancer associated retinopathy (CAR) is a paraneoplastic disease of the eye associated with the presence of extraocular malignancy and circulating autoantibodies against retinal proteins." [Orphanet:71505] subset: ordo_disease {source="Orphanet:71505"} synonym: "CAR syndrome" EXACT [Orphanet:71505] synonym: "paraneoplastic retinopathy" EXACT [Orphanet:71505] xref: ICD9:362.10 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D059545 {source="MONDO:equivalentTo"} xref: Orphanet:71505 {source="MONDO:equivalentTo"} xref: SCTID:404663008 {source="MONDO:equivalentTo"} is_a: EFO:0003839 ! retinopathy is_a: MONDO:0018215 {source="Orphanet:71505"} ! paraneoplastic neurologic syndrome intersection_of: EFO:0003839 ! retinopathy intersection_of: disease_arises_from_feature MONDO:0004992 ! cancer relationship: disease_arises_from_feature MONDO:0004992 ! cancer property_value: exactMatch http://identifiers.org/mesh/D059545 property_value: exactMatch http://identifiers.org/snomedct/404663008 property_value: exactMatch Orphanet:71505 [Term] id: MONDO:0019113 name: benign paroxysmal torticollis of infancy def: "Benign paroxysmal torticollis of infancy (BPTI) is a rare functional disorder characterized by recurrent episodes of torticollic posturing of the head (inclination or tilting of the head to one side) in healthy children." [Orphanet:71518] subset: ordo_disease {source="Orphanet:71518"} xref: Orphanet:71518 {source="MONDO:equivalentTo"} xref: SCTID:719521002 {source="MONDO:equivalentTo"} xref: UMLS:CN205631 {source="MONDO:equivalentTo"} is_a: MONDO:0016058 {source="Orphanet:71518"} ! paroxysmal dystonia property_value: exactMatch http://identifiers.org/snomedct/719521002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205631 property_value: exactMatch Orphanet:71518 [Term] id: MONDO:0019115 name: obesity due to melanocortin 4 receptor deficiency def: "Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterized by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function." [Orphanet:71529] subset: ordo_malformation_syndrome {source="Orphanet:71529"} synonym: "MC4R deficiency" EXACT [Orphanet:71529] xref: NCIT:C120394 {source="MONDO:equivalentTo"} xref: Orphanet:71529 {source="MONDO:equivalentTo"} xref: SCTID:717269008 {source="MONDO:equivalentTo"} xref: UMLS:C4273958 {source="MONDO:equivalentTo"} is_a: MONDO:0020075 ! hereditary non-syndromic obesity property_value: exactMatch http://identifiers.org/snomedct/717269008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4273958 property_value: exactMatch NCIT:C120394 property_value: exactMatch Orphanet:71529 [Term] id: MONDO:0019118 name: inherited retinal dystrophy def: "An instance of retinal degeneration that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] comment: Editor note: This class deliberately merges distinct concepts of RD and inherited RD in other ontologies, as we believe these the same subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:71862"} synonym: "familial retinal dystrophy" EXACT [] synonym: "fundus dystrophy" BROAD [MONDO:0004590] synonym: "genetic retinal dystrophy" EXACT [] synonym: "hereditary retinal degeneration" EXACT [MONDO:patterns/hereditary] synonym: "hereditary retinal dystrophy" EXACT [MONDO:0004589] synonym: "inherited retinal dystrophy" EXACT [] synonym: "retinal dystrophy" EXACT [DOID:8501, NCIT:C35625] xref: DOID:8500 {source="MONDO:equivalentTo"} xref: DOID:8501 {source="MONDO:equivalentTo"} xref: HP:0000556 {source="MONDO:otherHierarchy"} xref: ICD10CM:H35.5 {source="DOID:8500", source="MONDO:equivalentTo"} xref: ICD9:362.7 {source="DOID:8500"} xref: ICD9:362.70 {source="DOID:8500", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:362.72 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:362.75 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10038857 {source="Orphanet:71862", source="Orphanet:71862/e"} xref: MESH:D058499 {source="DOID:8501", source="MONDO:equivalentTo", source="Orphanet:71862", source="Orphanet:71862/e"} xref: NCIT:C35194 {source="DOID:8500", source="MONDO:equivalentTo"} xref: NCIT:C35625 {source="DOID:8501", source="MONDO:equivalentTo"} xref: Orphanet:71862 {source="MONDO:equivalentTo"} xref: SCTID:314407005 {source="DOID:8501", source="MONDO:equivalentTo"} xref: SCTID:41799005 {source="DOID:8500", source="MONDO:equivalentTo"} xref: UMLS:C0154860 {source="DOID:8500", source="NCIT:C35194", source="MONDO:equivalentTo"} xref: UMLS:C0854723 {source="DOID:8501", source="MONDO:equivalentTo", source="Orphanet:71862", source="NCIT:C35625", source="Orphanet:71862/e"} is_a: MONDO:0004580 ! retinal degeneration is_a: MONDO:0020238 {source="Orphanet:71862"} ! inherited vitreous-retinal disease is_a: MONDO:0024417 ! perceptual disorders intersection_of: MONDO:0004580 ! retinal degeneration intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: closeMatch http://identifiers.org/meddra/10038857 property_value: exactMatch DOID:8500 property_value: exactMatch DOID:8501 property_value: exactMatch http://identifiers.org/mesh/D058499 property_value: exactMatch http://identifiers.org/snomedct/314407005 property_value: exactMatch http://identifiers.org/snomedct/41799005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154860 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0854723 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/H35.5 property_value: exactMatch NCIT:C35194 property_value: exactMatch NCIT:C35625 property_value: exactMatch Orphanet:71862 [Term] id: MONDO:0019120 name: pili bifurcati def: "Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle." [Orphanet:720] subset: ordo_disease {source="Orphanet:720"} xref: Orphanet:720 {source="MONDO:equivalentTo"} xref: SCTID:717360009 {source="MONDO:equivalentTo"} is_a: MONDO:0019281 {source="Orphanet:720"} ! isolated genetic hair shaft abnormality property_value: exactMatch http://identifiers.org/snomedct/717360009 property_value: exactMatch Orphanet:720 [Term] id: MONDO:0019123 name: continuous spikes and waves during sleep def: "Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development." [Orphanet:725] subset: ordo_disease {source="Orphanet:725"} synonym: "continuous spikes and waves during slow-wave sleep" EXACT [Orphanet:725] synonym: "CSWS" EXACT ABBREVIATION [Orphanet:725] synonym: "CSWSS syndrome" EXACT [Orphanet:725] synonym: "epileptic encephalopathy with continuous spike-and-wave during slow sleep" EXACT [Orphanet:725] xref: Orphanet:725 {source="MONDO:equivalentTo"} xref: UMLS:C3806403 {source="MONDO:equivalentTo"} xref: UMLS:CN181337 {source="MONDO:equivalentTo"} xref: UMLS:CN205644 {source="MONDO:equivalentTo"} is_a: EFO:1001010 ! Landau-Kleffner syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3806403 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN181337 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205644 property_value: exactMatch Orphanet:725 [Term] id: MONDO:0019126 name: intractable diarrhea of infancy def: "Intractable diarrhea of infancy (IDI) is a heterogeneous syndrome that includes several diseases with different aetiologies. Provisional classification of IDI, according to villous atrophy and based on immunohistological criteria, distinguishes two clearly different groups of IDI: 1) Immune-mediated: characterized by a mononuclear cell infiltration of the lamina propria and considered as being related to T cell activation. 2) The second histological pattern includes early onset severe intractable diarrhea histologically characterized by villous atrophy with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium." [Orphanet:73014] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:73014"} synonym: "IDI" EXACT ABBREVIATION [Orphanet:73014] xref: Orphanet:73014 {source="MONDO:equivalentTo"} is_a: EFO:0009431 {source="Orphanet:73014"} ! intestinal disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015245"} ! rare property_value: exactMatch Orphanet:73014 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0019128 name: mullerian aplasia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:73217"} synonym: "aplasia of the Mullerian ducts" EXACT [Orphanet:73217] synonym: "aplasia of the Müllerian ducts" EXACT [Orphanet:73217] synonym: "Mullerian duct failure" EXACT [Orphanet:73217] synonym: "Müllerian aplasia" RELATED [Orphanet:73217] synonym: "Müllerian duct failure" EXACT [Orphanet:73217] xref: MESH:C537371 {source="MONDO:equivalentTo", source="Orphanet:73217", source="Orphanet:73217/e"} xref: Orphanet:73217 {source="MONDO:equivalentTo"} xref: SCTID:253828000 {source="MONDO:equivalentTo"} is_a: MONDO:0015828 {source="Orphanet:73217/inferred", source="https://github.com/monarch-initiative/mondo-build/issues/58"} ! uterovaginal malformation relationship: has_characteristic MONDO:0021136 {source="MONDO:0015511", source="MONDO:0015980"} ! rare property_value: exactMatch http://identifiers.org/mesh/C537371 property_value: exactMatch http://identifiers.org/snomedct/253828000 property_value: exactMatch Orphanet:73217 property_value: excluded_subClassOf MONDO:0015829 {source="Orphanet:73217"} [Term] id: MONDO:0019129 name: global developmental delay-osteopenia-ectodermal defect syndrome def: "This syndrome is characterized by the association of global developmental delay, osteopenia and skin anomalies." [Orphanet:73223] subset: ordo_malformation_syndrome {source="Orphanet:73223"} xref: Orphanet:73223 {source="MONDO:equivalentTo"} xref: SCTID:717813005 {source="MONDO:equivalentTo"} xref: UMLS:CN227576 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: exactMatch http://identifiers.org/snomedct/717813005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227576 property_value: exactMatch Orphanet:73223 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:73223"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0019130 name: tubular renal disease-cardiomyopathy syndrome def: "A syndrome characterized by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy." [Orphanet:73224] subset: ordo_disease {source="Orphanet:73224"} xref: Orphanet:73224 {source="MONDO:equivalentTo"} xref: UMLS:CN205654 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="Orphanet:73224"} ! syndromic disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205654 property_value: exactMatch Orphanet:73224 property_value: excluded_subClassOf MONDO:0016337 {source="Orphanet:73224"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/324 xsd:anyURI [Term] id: MONDO:0019131 name: ossification anomalies-psychomotor developmental delay syndrome def: "Ossification anomalies-psychomotor developmental delay syndrome is characterized by hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia, and abnormal and slender long bones due to an alteration in remodeling during ossification." [Orphanet:73230] subset: ordo_disease {source="Orphanet:73230"} xref: Orphanet:73230 {source="MONDO:equivalentTo"} xref: UMLS:CN227577 {source="MONDO:equivalentTo"} is_a: MONDO:0015929 {source="Orphanet:73230"} ! thoracic malformation property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227577 property_value: exactMatch Orphanet:73230 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:73230"} property_value: excluded_subClassOf MONDO:0019705 {source="Orphanet:73230"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0019132 name: spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome subset: ordo_malformation_syndrome {source="Orphanet:73245"} xref: Orphanet:73245 {source="MONDO:equivalentTo"} xref: UMLS:CN205656 {source="MONDO:equivalentTo"} is_a: MONDO:0020022 ! central nervous system malformation relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205656 property_value: exactMatch Orphanet:73245 [Term] id: MONDO:0019133 name: visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome def: "Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome is characterized by facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome (CIPO)." [Orphanet:73246] subset: ordo_malformation_syndrome {source="Orphanet:73246"} xref: Orphanet:73246 {source="MONDO:equivalentTo"} xref: UMLS:CN205657 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:73246"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205657 property_value: exactMatch Orphanet:73246 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:73246"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0019138 name: bleeding diathesis due to a collagen receptor defect comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: obsoletion_candidate subset: ordo_disease {source="Orphanet:73271"} xref: Orphanet:73271 {source="MONDO:equivalentTo"} is_a: MONDO:0000009 {source="MONDO:0017142-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0021181 {source="MONDO:0017142-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! inherited blood coagulation disorder property_value: exactMatch Orphanet:73271 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0019139 name: acquired hemophilia def: "Acquired hemophilia is a bleeding disorder that interferes with the body's blood clotting process. Signs and symptoms include prolonged bleeding, frequent nosebleeds, bruising throughout the body, solid swellings of congealed blood (hematomas), hematuria, and gastrointestinal or urologic bleeding. Acquired hemophilia occurs when the body's immune system attacks and disables a certain protein that helps the blood clot. About half of the cases are associated with other conditions, such as pregnancy, autoimmune disease, cancer, skin diseases, or allergic reactions to medications." [GARD:0010350] subset: ordo_disease {source="Orphanet:73274"} synonym: "acquired hemophilia" EXACT [GARD:0010350, MONDO:patterns/acquired] synonym: "hemophilia, acquired" EXACT [GARD:0010350] xref: ICD10CM:D68.311 {source="MONDO:equivalentTo"} xref: MedDRA:10053745 {source="Orphanet:73274/e", source="Orphanet:73274"} xref: MESH:C536392 {source="MONDO:mondoIsBroaderThanSource"} xref: Orphanet:73274 {source="MONDO:equivalentObsolete"} xref: UMLS:C1096116 {source="Orphanet:73274/e", source="MONDO:equivalentTo", source="Orphanet:73274"} is_a: MONDO:0002243 {source="MONDO:0015662-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! hemorrhagic disease is_a: MONDO:0018660 ! hemophilia is_a: MONDO:0020599 ! acquired coagulation factor deficiency intersection_of: MONDO:0018660 ! hemophilia intersection_of: has_characteristic MONDO:0021141 ! acquired property_value: closeMatch http://identifiers.org/meddra/10053745 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1096116 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D68.311 [Term] id: MONDO:0019141 name: porokeratosis of Mibelli def: "Porokeratosis of Mibelli (PM) is a form of porokeratosis that is characterized by the presence of brown single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border." [Orphanet:735] subset: ordo_disease {source="Orphanet:735"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:735 {source="MONDO:equivalentTo"} xref: SCTID:80432009 {source="MONDO:equivalentTo"} xref: UMLS:C0949506 {source="Orphanet:735", source="MONDO:equivalentTo"} is_a: EFO:1000757 {source="Orphanet:735"} ! porokeratosis property_value: exactMatch http://identifiers.org/snomedct/80432009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0949506 property_value: exactMatch Orphanet:735 [Term] id: MONDO:0019142 name: inherited porphyria def: "Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." [Orphanet:738] comment: Editor notes: see notes for porphyria cutanea tarda for a discussion of inherited vs sporadic subset: disease_grouping subset: gard_rare {source="GARD:0010353"} subset: ordo_group_of_disorders {source="Orphanet:738"} synonym: "disorder of porphyrin and hem metabolism" EXACT [DOID:13268] synonym: "disorder of porphyrin and heme metabolism" BROAD [DOID:13268] synonym: "disorder of porphyrin metabolism" BROAD [DOID:13268, ICD9CM:277.1] synonym: "Hematoporphyria" RELATED [DOID:13268] synonym: "hereditary porphyria" EXACT [MONDO:patterns/hereditary] synonym: "porphyria" BROAD [DOID:13268] synonym: "Porphyrinopathy" RELATED [DOID:13268] xref: DOID:13268 {source="MONDO:equivalentTo"} xref: ICD9:277.1 {source="DOID:13268"} xref: MedDRA:10036181 {source="Orphanet:738", source="Orphanet:738/e"} xref: MedDRA:10061356 {source="Orphanet:738", source="Orphanet:738/e"} xref: MESH:D011164 {source="MONDO:equivalentTo", source="Orphanet:738", source="DOID:13268", source="Orphanet:738/e"} xref: NCIT:C97096 {source="MONDO:equivalentTo", source="DOID:13268"} xref: Orphanet:738 {source="MONDO:equivalentTo"} xref: SCTID:371628009 {source="MONDO:equivalentTo", source="DOID:13268"} xref: SCTID:418470004 {source="MONDO:relatedTo", source="DOID:13268"} xref: UMLS:C0032708 {source="NCIT:C97096", source="MONDO:equivalentTo", source="Orphanet:738", source="DOID:13268", source="Orphanet:738/e"} is_a: MONDO:0015951 {source="Orphanet:738"} ! hereditary photodermatosis is_a: MONDO:0017754 {source="MONDO:Redundant", source="Orphanet:738"} ! inborn disorder of porphyrin metabolism is_a: MONDO:0037939 ! porphyria intersection_of: MONDO:0037939 ! porphyria intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: closeMatch http://identifiers.org/meddra/10036181 property_value: closeMatch http://identifiers.org/meddra/10061356 property_value: exactMatch DOID:13268 property_value: exactMatch http://identifiers.org/mesh/D011164 property_value: exactMatch http://identifiers.org/snomedct/371628009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032708 property_value: exactMatch NCIT:C97096 property_value: exactMatch Orphanet:738 property_value: excluded_subClassOf MONDO:0019743 {source="Orphanet:738"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10353/porphyria xsd:anyURI {source="GARD:0010353"} [Term] id: MONDO:0019144 name: hereditary thrombophilia due to congenital protein S deficiency def: "Congenital protein S deficiency is an inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S." [Orphanet:743] subset: ordo_disease {source="Orphanet:743"} synonym: "autosomal recessive thrombophilia due to congenital protein S deficiency" EXACT [Orphanet:743] synonym: "hereditary thrombophilia due to congenital protein S deficiency" EXACT [] synonym: "severe hereditary thrombophilia due to congenital protein S deficiency" RELATED [Orphanet:743] xref: DOID:0111905 {source="MONDO:equivalentTo"} xref: Orphanet:743 {source="MONDO:equivalentTo"} is_a: MONDO:0002304 {source="MONDO:cjm"} ! protein S deficiency is_a: MONDO:0100240 {source="MONDO:0016320-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! inherited thrombophilia property_value: exactMatch DOID:0111905 property_value: exactMatch Orphanet:743 [Term] id: MONDO:0019145 name: hereditary thrombophilia due to congenital protein C deficiency def: "Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C." [Orphanet:745] subset: ordo_disease {source="Orphanet:745"} synonym: "autosomal recessive thrombophilia due to congenital protein C deficiency" EXACT [Orphanet:745] synonym: "autosomal recessive thrombophilia due to PC deficiency" EXACT [Orphanet:745] synonym: "hereditary thrombophilia due to congenital protein C deficiency" EXACT [] synonym: "hereditary thrombophilia due to PC deficiency" EXACT [Orphanet:745] synonym: "Protein C deficiency" EXACT [NCIT:C99025] synonym: "protein C deficiency" EXACT [MONDO:0002767] synonym: "Protein C deficiency disease" EXACT [NCIT:C99025] synonym: "severe hereditary thrombophilia due to congenital protein C deficiency" RELATED [Orphanet:745] xref: DOID:3756 {source="MONDO:equivalentTo"} xref: MESH:C535424 {source="MONDO:equivalentTo"} xref: MESH:D020151 {source="MONDO:equivalentTo", source="DOID:3756"} xref: NCIT:C99025 {source="MONDO:equivalentTo", source="DOID:3756"} xref: Orphanet:745 {source="MONDO:equivalentTo"} xref: SCTID:76407009 {source="MONDO:equivalentTo", source="DOID:3756"} is_a: MONDO:0100240 {source="MESH:C535424/inferred", source="MESH:D020151", source="MONDO:0016320-obsoleted", source="NCIT:C99025"} ! inherited thrombophilia property_value: exactMatch DOID:3756 property_value: exactMatch http://identifiers.org/mesh/C535424 property_value: exactMatch http://identifiers.org/mesh/D020151 property_value: exactMatch http://identifiers.org/snomedct/76407009 property_value: exactMatch NCIT:C99025 property_value: exactMatch Orphanet:745 [Term] id: MONDO:0019146 name: inherited susceptibility to mycobacterial diseases def: "Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." [Orphanet:748] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:748"} subset: predisposition synonym: "idiopathic infection caused by BCG or atypical mycobacteria" EXACT [Orphanet:748] synonym: "Mendelian susceptibility to atypical mycobacteria" EXACT [Orphanet:748] synonym: "Mendelian susceptibility to mycobacterial infections" EXACT [Orphanet:748] synonym: "MSMD" EXACT ABBREVIATION [Orphanet:748] synonym: "Mycobacterium caused genetic susceptibility to infections due to particular pathogens" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Mycobacterium genetic susceptibility to infections due to particular pathogens" EXACT [] xref: Orphanet:748 {source="MONDO:equivalentTo"} xref: UMLS:C3266863 {source="MONDO:equivalentTo", source="Orphanet:748"} xref: UMLS:CN181681 {source="MONDO:equivalentTo"} is_a: MONDO:0015979 {source="Orphanet:748"} ! hereditary predisposition to infections property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3266863 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN181681 property_value: exactMatch Orphanet:748 [Term] id: MONDO:0019148 name: Wolman disease def: "Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease. The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues." [Orphanet:75233] subset: ordo_clinical_subtype {source="Orphanet:75233"} synonym: "acid esterase deficiency" EXACT [DOID:14497] synonym: "acid lipase deficiency" EXACT [DOID:14497] synonym: "deficiency of cholesterol esterase and triacylglycerol lipase" RELATED [] synonym: "familial visceral xanthomatosis" RELATED [] synonym: "familial xanthomatosis" RELATED [GARD:0007899] synonym: "liposomal acid lipase deficiency, Wolman type" RELATED [GARD:0007899] synonym: "lysosomal acid lipase deficiency" BROAD [NCIT:C61271] synonym: "primary familial xanthomatosis" RELATED [] synonym: "primary familial xanthomatosis with adrenal calcification" RELATED [] synonym: "Wolman disease with hypolipoproteinemia and acanthocytosis" EXACT [OMIM:278100] synonym: "Wolman xanthomatosis" EXACT [DOID:14497] synonym: "Wolman's disease" EXACT [DOID:14497] synonym: "Wolman's or triglyceride storage type III disease" EXACT [DOID:14497] synonym: "xanthomatosis, familial" EXACT [DOID:14497] xref: DOID:14497 {source="MONDO:equivalentTo"} xref: MedDRA:10053687 {source="Orphanet:75233", source="Orphanet:75233/e"} xref: MESH:C564736 {source="MONDO:equivalentTo"} xref: MESH:D015223 {source="Orphanet:75233", source="MONDO:equivalentTo", source="Orphanet:75233/e", source="DOID:14497"} xref: NCIT:C61271 {source="MONDO:equivalentTo", source="DOID:14497"} xref: OMIM:620151 {source="MONDO:equivalentTo"} xref: Orphanet:75233 {source="MONDO:equivalentTo"} xref: SCTID:82500001 {source="MONDO:equivalentTo", source="DOID:14497"} xref: UMLS:C0043208 {source="Orphanet:75233", source="MONDO:equivalentTo", source="NCIT:C61271", source="Orphanet:75233/e", source="DOID:14497"} xref: UMLS:C1848436 {source="OMIM:278100", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:CN438428 {source="MONDO:equivalentTo"} is_a: MONDO:0010204 {source="DOID:14497", source="Orphanet:75233"} ! lysosomal acid lipase deficiency property_value: closeMatch http://identifiers.org/meddra/10053687 property_value: exactMatch DOID:14497 property_value: exactMatch http://identifiers.org/mesh/C564736 property_value: exactMatch http://identifiers.org/mesh/D015223 property_value: exactMatch http://identifiers.org/snomedct/82500001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043208 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848436 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN438428 property_value: exactMatch https://omim.org/entry/620151 property_value: exactMatch NCIT:C61271 property_value: exactMatch Orphanet:75233 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5903 xsd:anyURI [Term] id: MONDO:0019149 name: cholesteryl ester storage disease def: "Cholesteryl ester storage disease (CESD) is a very rare, late-onset, genetic endocrine disease characterized by deficient or inactive lysosomal acid lipase (LAL) causing lipid build-up, which leads to atherosclerosis, hepatomegaly, splenomegaly, progressive liver disease, and malabsorption." [Orphanet:75234] subset: ordo_clinical_subtype {source="Orphanet:75234"} synonym: "CESD" RELATED ABBREVIATION [GARD:0012099] synonym: "cholesterol ester storage disease" EXACT [MONDO:0001981, Orphanet:75234] xref: DOID:14502 {source="MONDO:equivalentTo"} xref: Orphanet:75234 {source="MONDO:equivalentTo"} xref: SCTID:57218003 {source="MONDO:equivalentTo", source="DOID:14502"} xref: UMLS:C0008384 {source="Orphanet:75234", source="MONDO:equivalentTo", source="DOID:14502"} is_a: MONDO:0010204 {source="DOID:14502", source="Orphanet:75234"} ! lysosomal acid lipase deficiency property_value: exactMatch DOID:14502 property_value: exactMatch http://identifiers.org/snomedct/57218003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008384 property_value: exactMatch Orphanet:75234 [Term] id: MONDO:0019150 name: familial isolated restrictive cardiomyopathy def: "Familial restrictive cardiomyopathy is a genetic form of heart disease, in which the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles." [https://ghr.nlm.nih.gov/condition/familial-restrictive-cardiomyopathy] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: obsoletion_candidate subset: ordo_disease {source="Orphanet:75249"} synonym: "familial or idiopathic restrictive cardiomyopathy" EXACT [Orphanet:75249] xref: Orphanet:75249 {source="MONDO:equivalentTo"} xref: UMLS:CN205687 {source="MONDO:equivalentTo"} is_a: MONDO:0016340 {source="Orphanet:75249"} ! familial restrictive cardiomyopathy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205687 property_value: exactMatch Orphanet:75249 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0019151 name: oligocone trichromacy def: "Oligocone trichromacy is a rare non-progressive form of cone photoreceptor dysfunction characterized by reduced visual acuity, normal retinal appearance, absent or reduced cone responses on electroretinography but normal color vision." [Orphanet:75378] subset: ordo_disease {source="Orphanet:75378"} synonym: "Oligocone syndrome" EXACT [Orphanet:75378] xref: Orphanet:75378 {source="MONDO:equivalentTo"} xref: SCTID:722066001 {source="MONDO:equivalentTo"} xref: UMLS:C4302876 {source="MONDO:equivalentTo"} xref: UMLS:CN205696 {source="MONDO:equivalentTo"} is_a: MONDO:0019118 {source="Orphanet:75378"} ! inherited retinal dystrophy property_value: exactMatch http://identifiers.org/snomedct/722066001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4302876 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205696 property_value: exactMatch Orphanet:75378 [Term] id: MONDO:0019152 name: Oguchi disease def: "Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness and the Mizuo-Nakamura phenomenon." [Orphanet:75382] subset: gard_rare {source="GARD:0010118"} subset: ordo_malformation_syndrome {source="Orphanet:75382"} synonym: "congenital stationary night blindness, Oguchi type" EXACT [Orphanet:75382] synonym: "Oguchi disease" EXACT [] synonym: "Oguchi syndrome" EXACT [Orphanet:75382] synonym: "stationary night blindness, Oguchi type" RELATED [GARD:0010118] xref: MESH:C537743 {source="Orphanet:75382/e", source="MONDO:equivalentTo", source="Orphanet:75382"} xref: Orphanet:75382 {source="MONDO:equivalentTo"} is_a: MONDO:0019118 {source="Orphanet:75382", source="https://orcid.org/0000-0001-5208-3432"} ! inherited retinal dystrophy property_value: exactMatch http://identifiers.org/mesh/C537743 property_value: exactMatch Orphanet:75382 property_value: excluded_subClassOf MONDO:0016293 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10118/oguchi-disease xsd:anyURI {source="GARD:0010118"} [Term] id: MONDO:0019153 name: brain malformation-congenital heart disease-postaxial polydactyly syndrome def: "Goossens-Devriendt syndrome is characterized by intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, a brain malformation, abnormal hair with temporal balding, and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay." [Orphanet:75389] subset: ordo_malformation_syndrome {source="Orphanet:75389"} synonym: "Goossens-Devriendt syndrome" EXACT [Orphanet:75389] xref: Orphanet:75389 {source="MONDO:equivalentTo"} xref: SCTID:717943008 {source="MONDO:equivalentTo"} xref: UMLS:C4303545 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:75389"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/snomedct/717943008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303545 property_value: exactMatch Orphanet:75389 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:75389"} property_value: excluded_subClassOf MONDO:0005267 {source="MONDO:0015506-obsoleted"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0019154 name: androgen insensitivity syndrome def: "Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS)." [Orphanet:754] subset: disease_grouping subset: gard_rare {source="GARD:0005803"} subset: ordo_group_of_disorders {source="Orphanet:754"} synonym: "AIS" BROAD ABBREVIATION [MONDO:Lexical, OMIM:300068, Orphanet:754] synonym: "androgen insensitivity syndrome" EXACT [MONDO:Lexical, OMIM:300068] synonym: "androgen insensitivity, X-linked recessive" EXACT [OMIM:300068, OMIM:genemap2] synonym: "androgen receptor deficiency" RELATED [OMIM:300068] synonym: "androgen resistance syndrome" EXACT [Orphanet:754] synonym: "androgen-insensitivity syndrome" EXACT [DOID:4674] synonym: "AR deficiency" RELATED [OMIM:300068] synonym: "DHTR deficiency" RELATED [OMIM:300068] synonym: "dihydrotestosterone receptor deficiency" RELATED [OMIM:300068] synonym: "Feminisation - testicular" RELATED [DOID:4674] synonym: "Goldberg - Maxwell syndrome" EXACT [DOID:4674] synonym: "Goldberg-Maxwell syndrome" EXACT [DOID:4674, Orphanet:754] synonym: "Morris syndrome" EXACT [Orphanet:754] synonym: "testicular feminization" EXACT [DOID:4674] synonym: "testicular feminization syndrome" EXACT [DOID:4674, MTH:NOCODE, NCIT:C27226, OMIM:300068, Orphanet:754] synonym: "testicular feminization syndrome (formerly)" RELATED [GARD:0005803] xref: DOID:4674 {source="MONDO:equivalentTo"} xref: ICD9:259.5 {source="DOID:4674"} xref: ICD9:259.51 {source="DOID:4674", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:259.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10056292 {source="Orphanet:754", source="Orphanet:754/e"} xref: MESH:D013734 {source="DOID:4674", source="Orphanet:754", source="MONDO:equivalentTo", source="Orphanet:754/e"} xref: NCIT:C27226 {source="DOID:4674", source="MONDO:equivalentTo"} xref: OMIM:300068 {source="MONDO:equivalentTo", source="Orphanet:99429"} xref: Orphanet:754 {source="MONDO:equivalentTo"} xref: SCTID:12313004 {source="DOID:4674", source="MONDO:equivalentTo"} xref: UMLS:C0039585 {source="DOID:4674", source="Orphanet:754", source="MONDO:equivalentTo", source="NCIT:C27226", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300068", source="Orphanet:754/e"} is_a: MONDO:0017969 {source="Orphanet:754"} ! 46,XY disorder of sex development of endocrine origin relationship: has_characteristic MONDO:0021136 {source="MONDO:0015511", source="MONDO:0015513", source="MONDO:0015960"} ! rare property_value: closeMatch http://identifiers.org/meddra/10056292 property_value: exactMatch DOID:4674 property_value: exactMatch http://identifiers.org/mesh/D013734 property_value: exactMatch http://identifiers.org/snomedct/12313004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039585 property_value: exactMatch https://omim.org/entry/300068 property_value: exactMatch NCIT:C27226 property_value: exactMatch Orphanet:754 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5803/androgen-insensitivity-syndrome xsd:anyURI {source="GARD:0005803"} [Term] id: MONDO:0019155 name: Leydig cell hypoplasia def: "A condition in males that affects sexual development. It is characterized by underdevelopment of the Leydig cells, which are cells in the testes that secrete male sex hormones (androgens) and are important for male sexual development. Individuals with LCH have a typical male genetic make-up (46, XY), but due to lowered levels of androgens, may have a range of genital (reproductive organ) differences. Individuals with LCH may have a small penis (micropenis),the opening of the urethra may be located on the underside of the penis (hypospadias), or the scrotum may be divided into two halves (bifid scrotum). Given these differences in development, the external genitalia may not appear clearly male or female (ambiguous genitalia). Some individuals with LCH can have female external genitalia and small testes that have not descended and are located in the pelvis, abdomen, or groin. This may be referred to as type 1, whereas less severe cases might be called type 2. LCH is inherited in an autosomal recessive manner and is caused by mutations in the LHCGR gene.Although there is no specific treatment or cure for LCH, there may be ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person." [GARD:0003244] subset: gard_rare subset: ordo_disease {source="Orphanet:755"} synonym: "46,XY disorder of sex development due to LH defects" RELATED [GARD:0003244] synonym: "46,XY disorder of sex development due to LH resistance or LHB deficiency" EXACT [Orphanet:755] synonym: "46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency" EXACT [Orphanet:755] synonym: "46,XY DSD due to LH resistance or LHB deficiency" EXACT [Orphanet:755] synonym: "46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency" EXACT [Orphanet:755] synonym: "Leydig cell agenesis" RELATED [GARD:0003244] synonym: "LH resistance due to LH receptor deactivation" RELATED [GARD:0003244] synonym: "Male hypergonadotropic hypogonadism due to LHCGR defect" RELATED [GARD:0003244] synonym: "Male pseudohermaphroditism due to LH resistance or LHB deficiency" EXACT [Orphanet:755] synonym: "Male pseudohermaphroditism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency" EXACT [GARD:0003244, Orphanet:755] xref: DOID:0112259 {source="MONDO:equivalentTo"} xref: MedDRA:10024406 {source="Orphanet:755", source="Orphanet:755/e"} xref: MESH:C562567 {source="MONDO:equivalentTo"} xref: Orphanet:755 {source="GARD:0003244", source="MONDO:equivalentTo"} is_a: EFO:0001379 {source="https://orcid.org/0000-0001-5208-3432"} ! endocrine system disease property_value: closeMatch http://identifiers.org/meddra/10024406 property_value: exactMatch DOID:0112259 property_value: exactMatch http://identifiers.org/mesh/C562567 property_value: exactMatch Orphanet:755 property_value: excluded_subClassOf MONDO:0005372 {source="MONDO:0018388-obsoleted"} [Term] id: MONDO:0019156 name: angioosteohypotrophic syndrome def: "Angioosteohypotrophic syndrome is a rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported." [Orphanet:75508] subset: ordo_malformation_syndrome {source="Orphanet:75508"} synonym: "Phlebectatic osteohypoplastic angiodysplasia" EXACT [Orphanet:75508] synonym: "Servelle-Martorell syndrome" EXACT [Orphanet:75508] xref: Orphanet:75508 {source="MONDO:equivalentTo"} xref: SCTID:765750001 {source="MONDO:equivalentTo"} xref: UMLS:CN205707 {source="MONDO:equivalentTo"} is_a: MONDO:0016524 {source="Orphanet:75508"} ! congenital vascular bone syndrome property_value: exactMatch http://identifiers.org/snomedct/765750001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205707 property_value: exactMatch Orphanet:75508 [Term] id: MONDO:0019161 name: pseudohypoaldosteronism type 1 def: "Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration." [Orphanet:756] subset: ordo_disease {source="Orphanet:756"} synonym: "PHA type 1" EXACT [Orphanet:756] synonym: "PHA1B" EXACT ABBREVIATION [NCIT:C123251] synonym: "pseudohypoaldosteronism type I autosomal recessive" EXACT [NCIT:C123251] xref: ICD9:275.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C123251 {source="MONDO:equivalentTo"} xref: Orphanet:756 {source="MONDO:equivalentTo"} xref: SCTID:43941006 {source="MONDO:equivalentTo"} xref: UMLS:C0268436 {source="NCIT:C123251", source="Orphanet:756", source="MONDO:equivalentTo", source="Orphanet:756/e"} is_a: MONDO:0015962 {source="Orphanet:756"} ! inherited renal tubular disease is_a: MONDO:0100323 ! inherited pseudohypoaldosteronism property_value: exactMatch http://identifiers.org/snomedct/43941006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268436 property_value: exactMatch NCIT:C123251 property_value: exactMatch Orphanet:756 [Term] id: MONDO:0019162 name: pseudohypoaldosteronism type 2 def: "A rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function." [https://orcid.org/0000-0001-5208-3432, Orphanet:757] subset: ordo_disease {source="Orphanet:757"} synonym: "chloride shunt syndrome" EXACT [Orphanet:757] synonym: "familial hyperkalemic hypertension" EXACT [Orphanet:757] synonym: "Gordon hyperkalemia-hypertension syndrome" EXACT [Orphanet:757] synonym: "Gordon syndrome" RELATED [NCIT:C123252] synonym: "hyperkalemia-hypertension syndrome, Gordon type" EXACT [Orphanet:757] synonym: "hyperpotassemia and hypertension familial" RELATED [GARD:0004553] synonym: "hypertensive hyperkalemia" EXACT [Orphanet:757] synonym: "mineralocorticoid resistant hyperkalemia" EXACT [Orphanet:757] synonym: "PHA2" EXACT ABBREVIATION [Orphanet:757] synonym: "PHAII" EXACT ABBREVIATION [Orphanet:757] synonym: "pseudohypoaldosteronism, type 2" EXACT [] synonym: "pseudohypoaldosteronism, type II" EXACT [OMIMPS:145260] synonym: "Spitzer-Weinstein syndrome" EXACT [Orphanet:757] xref: ICD9:588.89 xref: NCIT:C123252 {source="MONDO:equivalentTo"} xref: OMIMPS:145260 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:757 {source="MONDO:equivalentTo"} xref: SCTID:15689008 {source="MONDO:equivalentTo"} xref: UMLS:C1449844 {source="NCIT:C123252", source="Orphanet:757", source="MONDO:equivalentTo", source="Orphanet:757/e"} is_a: MONDO:0100323 ! inherited pseudohypoaldosteronism property_value: exactMatch http://identifiers.org/snomedct/15689008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1449844 property_value: exactMatch https://omim.org/phenotypicSeries/PS145260 property_value: exactMatch NCIT:C123252 property_value: exactMatch Orphanet:757 [Term] id: MONDO:0019164 name: 6q terminal deletion syndrome def: "6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations." [Orphanet:75857] subset: ordo_malformation_syndrome {source="Orphanet:75857"} xref: Orphanet:75857 {source="MONDO:equivalentTo"} xref: SCTID:719666002 {source="MONDO:equivalentTo"} xref: UMLS:C4304514 {source="MONDO:equivalentTo"} xref: UMLS:CN205719 {source="MONDO:equivalentTo"} is_a: MONDO:0015246 {source="Orphanet:75857"} ! syndromic anorectal malformation is_a: MONDO:0016905 {source="Orphanet:75857"} ! partial deletion of the long arm of chromosome 6 property_value: exactMatch http://identifiers.org/snomedct/719666002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304514 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205719 property_value: exactMatch Orphanet:75857 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0019169 name: pyruvate dehydrogenase deficiency def: "Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency." [Orphanet:765] subset: ordo_disease {source="Orphanet:765"} synonym: "deficiency of pyruvic dehydrogenase" EXACT [DOID:3649] synonym: "PDH" EXACT ABBREVIATION [Orphanet:765] synonym: "PDHC" EXACT ABBREVIATION [Orphanet:765] synonym: "pyruvate decarboxylase deficiency" EXACT [MONDO:0005934] synonym: "pyruvate dehydrogenase complex deficiency" EXACT [Orphanet:765] synonym: "pyruvate dehydrogenase complex deficiency disease" EXACT [DOID:3649] synonym: "pyruvate dehydrogenase deficiency" EXACT [DOID:3649] xref: DOID:3649 {source="EFO:0007459", source="MONDO:equivalentTo"} xref: EFO:0007459 {source="MONDO:equivalentTo"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C103968 {source="MONDO:equivalentTo", source="DOID:3649"} xref: OMIMPS:312170 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:765 {source="MONDO:equivalentTo"} xref: SCTID:46683007 {source="MONDO:equivalentTo", source="DOID:3649"} is_a: MONDO:0004069 ! inborn mitochondrial metabolism disorder is_a: MONDO:0015653 ! monogenic epilepsy is_a: MONDO:0016789 {source="Orphanet:765"} ! pyruvate metabolism disorder is_a: MONDO:0019214 {source="DOID:3649", source="EFO:0007459"} ! inborn carbohydrate metabolic disorder is_a: MONDO:0020127 ! hereditary peripheral neuropathy is_a: MONDO:0100033 ! metabolic epilepsy property_value: exactMatch DOID:3649 property_value: exactMatch http://identifiers.org/snomedct/46683007 property_value: exactMatch https://omim.org/phenotypicSeries/PS312170 property_value: exactMatch NCIT:C103968 property_value: exactMatch Orphanet:765 [Term] id: MONDO:0019171 name: familial long QT syndrome def: "A hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias." [Orphanet:768] subset: clingen subset: ordo_disease {source="Orphanet:768"} synonym: "congenital long QT syndrome" EXACT [Orphanet:768] synonym: "familial long QT syndrome" EXACT [] synonym: "hereditary long QT syndrome" EXACT [MONDO:patterns/hereditary] synonym: "LQTS" EXACT ABBREVIATION [Orphanet:768] synonym: "Romano-Ward long QT syndrome" EXACT [Orphanet:101016] synonym: "Romano-Ward syndrome" EXACT [OMIM:192500] synonym: "Ward-Romano syndrome" EXACT [OMIM:192500] xref: MedDRA:10057926 {source="Orphanet:768", source="Orphanet:768/e"} xref: OMIMPS:192500 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:101016 {source="OMIM:192500", source="MONDO:equivalentTo"} xref: Orphanet:768 {source="MONDO:equivalentTo"} xref: SCTID:442917000 {source="MONDO:equivalentTo"} xref: UMLS:C0035828 {source="OMIM:192500", source="Orphanet:101016", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:101016/e", source="NCIT:C85049"} xref: UMLS:C1141890 {source="Orphanet:768", source="MONDO:equivalentTo", source="Orphanet:768/e"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0005207 ! congenital heart disease is_a: MONDO:0002254 ! syndromic disease relationship: disease_has_feature EFO:0005307 ! torsades de pointes property_value: closeMatch http://identifiers.org/meddra/10057926 property_value: exactMatch http://identifiers.org/snomedct/442917000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035828 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1141890 property_value: exactMatch https://omim.org/phenotypicSeries/PS192500 property_value: exactMatch Orphanet:101016 property_value: exactMatch Orphanet:768 [Term] id: MONDO:0019172 name: aniridia def: "Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia)." [Orphanet:77] subset: disease_grouping subset: gard_rare {source="GARD:0005816"} subset: ordo_group_of_disorders {source="Orphanet:77"} synonym: "aplasia of iris" EXACT [DOID:12271] xref: DOID:12271 {source="MONDO:equivalentTo"} xref: ICD9:743.45 {source="MONDO:equivalentTo", source="DOID:12271", source="MONDO:i2s"} xref: MedDRA:10002532 {source="Orphanet:77", source="Orphanet:77/e"} xref: MESH:D015783 {source="Orphanet:77", source="MONDO:equivalentTo", source="DOID:12271", source="Orphanet:77/e"} xref: NCIT:C84563 {source="MONDO:equivalentTo", source="DOID:12271", source="MONDO:exact-label-match"} xref: Orphanet:77 {source="MONDO:equivalentObsolete"} xref: SCTID:69278003 {source="MONDO:equivalentTo", source="DOID:12271"} xref: UMLS:C0003076 {source="Orphanet:77", source="MONDO:equivalentTo", source="DOID:12271", source="Orphanet:77/e", source="NCIT:C84563"} is_a: MONDO:0002289 {source="DOID:12271", source="MESH:D015783"} ! iris disorder is_a: MONDO:0020146 {source="Orphanet:77"} ! major induction processes eye anomaly property_value: closeMatch http://identifiers.org/meddra/10002532 property_value: exactMatch DOID:12271 property_value: exactMatch http://identifiers.org/mesh/D015783 property_value: exactMatch http://identifiers.org/snomedct/69278003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003076 property_value: exactMatch NCIT:C84563 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5816/aniridia xsd:anyURI {source="GARD:0005816"} [Term] id: MONDO:0019174 name: obsolete infantile Refsum disease def: "OBSOLETE. Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD)." [Orphanet:772] subset: ordo_disease {source="Orphanet:772"} xref: DOID:0050444 {source="MONDO:obsoleteEquivalent"} xref: MESH:D052919 {source="MONDO:obsoleteEquivalent", source="Orphanet:772/e", source="Orphanet:772"} xref: NCIT:C84789 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:772 {source="MONDO:obsoleteEquivalent"} xref: SCTID:238062008 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0282527 {source="MONDO:obsoleteEquivalent", source="Orphanet:772/e", source="Orphanet:772"} property_value: exactMatch DOID:0050444 property_value: exactMatch http://identifiers.org/mesh/D052919 property_value: exactMatch http://identifiers.org/snomedct/238062008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0282527 property_value: exactMatch NCIT:C84789 property_value: exactMatch Orphanet:772 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3222 xsd:anyURI is_obsolete: true consider: MONDO:0100259 [Term] id: MONDO:0019175 name: primary lymphedema def: "A congenital condition that results in swelling in the arms or legs, and can occur during adolescence or adulthood. Loss of motion and pain may also accompany the swelling. Protein-rich lymphatic fluid accumulates in tissues, engorging and enlarging vessels and often causing visible swelling, tenderness, and pain. Left untreated, the affected tissues may continue to swell, and can become hardened or fibrotic and susceptible to infection." [NCIT:C48829] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:77240"} synonym: "primary lymphedema" EXACT [NCIT:C48829] synonym: "Troncular lymphatic malformation" EXACT [Orphanet:77240] xref: NCIT:C48829 {source="MONDO:equivalentTo"} xref: Orphanet:77240 {source="MONDO:equivalentTo"} is_a: MONDO:0019297 {source="NCIT:C48829", source="Orphanet:77240"} ! lymphedema property_value: exactMatch NCIT:C48829 property_value: exactMatch Orphanet:77240 [Term] id: MONDO:0019176 name: trichorhinophalangeal syndrome type I or III def: "Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones." [Orphanet:77258] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: obsoletion_candidate subset: ordo_malformation_syndrome {source="Orphanet:77258"} synonym: "trichorhinophalangeal syndrome type 1 and 3" EXACT [Orphanet:77258] xref: Orphanet:77258 {source="MONDO:equivalentTo"} xref: UMLS:CN205736 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0017951 {source="Orphanet:77258"} ! trichorhinophalangeal syndrome union_of: MONDO:0008596 ! trichorhinophalangeal syndrome type I union_of: MONDO:0008597 ! trichorhinophalangeal syndrome, type III property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205736 property_value: exactMatch Orphanet:77258 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0019177 name: odontoleukodystrophy def: "Leukodystrophy with oligodontia is characterized by progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive." [Orphanet:77295] subset: ordo_disease {source="Orphanet:77295"} synonym: "dentoleukoencephalopathy" EXACT [Orphanet:77295] synonym: "leukodystrophy with oligodontia" EXACT [Orphanet:77295] xref: Orphanet:77295 {source="MONDO:equivalentTo"} xref: SCTID:722064003 {source="MONDO:equivalentTo"} is_a: MONDO:0019046 {source="Orphanet:77295"} ! leukodystrophy property_value: exactMatch http://identifiers.org/snomedct/722064003 property_value: exactMatch Orphanet:77295 property_value: excluded_subClassOf MONDO:0011897 [Term] id: MONDO:0019178 name: auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome def: "The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age: 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities." [Orphanet:77300] subset: ordo_malformation_syndrome {source="Orphanet:77300"} xref: Orphanet:77300 {source="MONDO:equivalentTo"} xref: UMLS:CN205748 {source="MONDO:equivalentTo"} is_a: MONDO:0015161 {source="Orphanet:77300"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205748 property_value: exactMatch Orphanet:77300 [Term] id: MONDO:0019179 name: monosomy 9q22.3 def: "Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children." [Orphanet:77301] subset: ordo_malformation_syndrome {source="Orphanet:77301"} synonym: "microdeletion 9q22.3" EXACT [Orphanet:77301] xref: MESH:C579873 {source="MONDO:equivalentTo"} xref: Orphanet:77301 {source="MONDO:equivalentTo"} xref: SCTID:724098008 {source="MONDO:equivalentTo"} xref: UMLS:C3711390 {source="Orphanet:77301", source="MONDO:equivalentTo"} is_a: MONDO:0016908 {source="Orphanet:77301"} ! partial monosomy of the long arm of chromosome 9 property_value: exactMatch http://identifiers.org/mesh/C579873 property_value: exactMatch http://identifiers.org/snomedct/724098008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3711390 property_value: exactMatch Orphanet:77301 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0019180 name: hereditary hemorrhagic telangiectasia def: "A disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." [Orphanet:774] subset: ordo_disease {source="Orphanet:774"} synonym: "hereditary hemorrhagic telangiectasia" EXACT [] synonym: "HHT" EXACT ABBREVIATION [Orphanet:774] synonym: "Osler hemorrhagic telangiectasia syndrome" EXACT [DOID:1270] synonym: "Osler-Weber-Rendu disease" EXACT [DOID:1270, NCIT:C35064] synonym: "Rendu-Osler disease" EXACT [Orphanet:774] synonym: "Rendu-Osler-Weber disease" EXACT [DOID:1270, Orphanet:774] synonym: "telangiectasia, hereditary Hemorrahagic, of Rendu, Osler" EXACT [NCIT:C35064] synonym: "telangiectasia, hereditary hemorrhagic" EXACT [OMIMPS:187300] xref: DOID:1270 {source="MONDO:equivalentTo"} xref: ICD10CM:I78.0 {source="Orphanet:774", source="MONDO:equivalentTo", source="Orphanet:774/e", source="DOID:1270", source="Orphanet:774/specific"} xref: ICD9:448.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1270"} xref: MedDRA:10019883 {source="Orphanet:774", source="Orphanet:774/e"} xref: MESH:D013683 {source="MONDO:equivalentTo", source="DOID:1270"} xref: NCIT:C35064 {source="MONDO:equivalentTo", source="DOID:1270"} xref: OMIMPS:187300 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:774 {source="MONDO:equivalentTo", source="DOID:1270"} xref: SCTID:21877004 {source="MONDO:equivalentTo", source="DOID:1270"} xref: UMLS:C0039445 {source="Orphanet:774", source="NCIT:C35064", source="MONDO:equivalentTo", source="Orphanet:774/e", source="DOID:1270"} is_a: MONDO:0000426 {source="DOID:1270", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0001576 {source="MESH:D013683", source="NCIT:C35064"} ! telangiectasis is_a: MONDO:0015145 {source="Orphanet:774"} ! neurovascular malformation is_a: MONDO:0016229 ! hereditary vascular anomaly is_a: MONDO:0016231 {source="MONDO:Redundant", source="Orphanet:774"} ! capillary malformation is_a: MONDO:0019755 ! developmental defect during embryogenesis is_a: MONDO:0043218 ! neurovascular disorder property_value: closeMatch http://identifiers.org/meddra/10019883 property_value: exactMatch DOID:1270 property_value: exactMatch http://identifiers.org/mesh/D013683 property_value: exactMatch http://identifiers.org/snomedct/21877004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039445 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/I78.0 property_value: exactMatch https://omim.org/phenotypicSeries/PS187300 property_value: exactMatch NCIT:C35064 property_value: exactMatch Orphanet:774 property_value: excluded_subClassOf MONDO:0019293 {source="Orphanet:774"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5682 xsd:anyURI [Term] id: MONDO:0019181 name: non-syndromic X-linked intellectual disability def: "Nonspecific X-linked intellectual deficiencies (MRX) belong to the family of sex-linked intellectual deficiencies (XLMR). In contrast to syndromic or specific X-linked intellectual deficiencies (MRXS), which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only symptom of MRX." [Orphanet:777] subset: clingen subset: ordo_etiological_subtype {source="Orphanet:777"} synonym: "intellectual disability, nonsyndromic, X-linked" EXACT [OMIMPS:309530] synonym: "intellectual disability, X-linked, nonsyndromic" EXACT [MONDO:0000168] synonym: "isolated X-linked intellectual disability" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "mental retardation, nonsyndromic, X-linked" EXACT DEPRECATED [OMIMPS:309530] synonym: "mental retardation, X-linked, nonsyndromic" EXACT DEPRECATED [MONDO:0000168] synonym: "non-specific X-linked intellectual disability" EXACT [DOID:0050776] synonym: "non-specific X-linked mental retardation" EXACT DEPRECATED [DOID:0050776] synonym: "non-syndromic intellectual disability, X-linked" EXACT [MONDO:design_pattern, MONDO:patterns/x_linked] synonym: "non-syndromic X-linked intellectual disability" EXACT [] synonym: "nonsyndromic X-linked intellectual disability" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "X-linked non-specific intellectual disability" EXACT [Orphanet:777] synonym: "X-linked non-syndromic intellectual disability" EXACT [Orphanet:777] xref: DOID:0050776 {source="MONDO:equivalentTo"} xref: MESH:C564490 {source="MONDO:equivalentTo"} xref: OMIMPS:309530 {source="MONDO:equivalentTo"} xref: Orphanet:777 {source="MONDO:equivalentTo", source="DOID:0050776"} xref: UMLS:C3501611 {source="MONDO:equivalentTo"} is_a: MONDO:0000509 {source="MONDO:Redundant", source="Orphanet:777"} ! non-syndromic intellectual disability is_a: MONDO:0100284 {source="https://clinicalgenome.org/affiliation/40006/", source="https://github.com/monarch-initiative/mondo/issues/2670"} ! X-linked intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015108"} ! rare property_value: exactMatch DOID:0050776 property_value: exactMatch http://identifiers.org/mesh/C564490 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3501611 property_value: exactMatch https://omim.org/phenotypicSeries/PS309530 property_value: exactMatch Orphanet:777 [Term] id: MONDO:0019182 name: inherited obesity subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:77828"} synonym: "genetic obesity" EXACT [] synonym: "genetic obesity (disease)" EXACT [MONDO:patterns/genetic, Orphanet:77828] synonym: "leanness, inherited, autosomal recessive" EXACT [OMIM:601665, OMIM:genemap2] synonym: "monogenic obesity" EXACT [] synonym: "obesity, association with, Autosomal recessive" EXACT [OMIM:601665, OMIM:genemap2] synonym: "obesity, early-onset, susceptibility to, Autosomal recessive" EXACT [OMIM:601665, OMIM:genemap2] synonym: "obesity, late-onset, Autosomal recessive" EXACT [OMIM:601665, OMIM:genemap2] synonym: "obesity, mild, early-onset, Autosomal recessive" EXACT [OMIM:601665, OMIM:genemap2] synonym: "obesity, severe, and type II diabetes, Autosomal recessive" EXACT [OMIM:601665, OMIM:genemap2] synonym: "obesity, severe, Autosomal recessive" EXACT [OMIM:601665, OMIM:genemap2] synonym: "obesity, susceptibility to, Autosomal recessive" EXACT [OMIM:601665, OMIM:genemap2] xref: OMIM:601665 {source="MONDO:equivalentTo"} xref: Orphanet:77828 {source="MONDO:equivalentTo"} is_a: EFO:0001073 {source="MONDO:Redundant", source="Orphanet:77828"} ! obesity is_a: EFO:0001379 {source="Orphanet:77828"} ! endocrine system disease is_a: MONDO:0019052 ! inborn errors of metabolism intersection_of: EFO:0001073 ! obesity intersection_of: has_characteristic MONDO:0021152 ! inherited relationship: has_characteristic MONDO:0021136 {source="MONDO:0015513"} ! rare property_value: exactMatch https://omim.org/entry/601665 property_value: exactMatch Orphanet:77828 property_value: excluded_subClassOf MONDO:0015960 {source="Orphanet:77828"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0019187 name: Axenfeld-Rieger syndrome def: "Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." [Orphanet:782] subset: gard_rare {source="GARD:0005701"} subset: ordo_malformation_syndrome {source="Orphanet:782"} synonym: "anomaly, Rieger's" EXACT [DOID:14686] synonym: "Axenfeld syndrome" EXACT [DOID:14686, Orphanet:782] synonym: "Axenfeldt-Rieger syndrome" EXACT [NCIT:C131001] synonym: "goniodysgenesis hypodontia" RELATED [GARD:0005701] synonym: "Hagedoom syndrome" RELATED [DOID:14686] synonym: "iridogoniodysgenesis with somatic anomalies" RELATED [GARD:0005701] synonym: "RGS - Rieger syndrome" EXACT [DOID:14686] synonym: "Rieger syndrome" EXACT [Orphanet:782] synonym: "Rieger's anomaly" EXACT [DOID:14686] xref: DOID:14686 {source="MONDO:equivalentTo"} xref: ICD9:743.44 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10059255 {source="Orphanet:782/e", source="Orphanet:782"} xref: MESH:C535679 {source="Orphanet:782/e", source="MONDO:equivalentTo", source="Orphanet:782", source="DOID:14686"} xref: NCIT:C131001 {source="MONDO:equivalentTo"} xref: OMIMPS:180500 {source="MONDO:equivalentTo"} xref: Orphanet:782 {source="MONDO:equivalentTo", source="DOID:14686"} xref: SCTID:47507006 {source="MONDO:equivalentTo", source="DOID:14686"} xref: UMLS:C3495488 {source="MONDO:equivalentTo", source="NCIT:C131001", source="Orphanet:782"} xref: UMLS:CN776842 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C131001"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:782"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0021635 {source="MONDO:Redundant", source="Wikipedia:Neurocristopathy"} ! neurocristopathy property_value: closeMatch http://identifiers.org/meddra/10059255 property_value: exactMatch DOID:14686 property_value: exactMatch http://identifiers.org/mesh/C535679 property_value: exactMatch http://identifiers.org/snomedct/47507006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3495488 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776842 property_value: exactMatch https://omim.org/phenotypicSeries/PS180500 property_value: exactMatch NCIT:C131001 property_value: exactMatch Orphanet:782 property_value: excluded_subClassOf MONDO:0011119 {source="Orphanet:782"} property_value: excluded_subClassOf MONDO:0015217 {source="Orphanet:782"} property_value: excluded_subClassOf MONDO:0015246 {source="Orphanet:782"} property_value: excluded_subClassOf MONDO:0018762 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5701/axenfeld-rieger-syndrome xsd:anyURI {source="GARD:0005701"} [Term] id: MONDO:0019188 name: Rubinstein-Taybi syndrome def: "A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioral characteristics." [Orphanet:783] subset: ordo_malformation_syndrome {source="Orphanet:783"} synonym: "Broad thumb-hallux syndrome" EXACT [DOID:1933, Orphanet:783] synonym: "Broad thumbs-halluces syndrome" EXACT [Orphanet:783] synonym: "proximal chromosome 16p13.3 deletion syndrome" EXACT [DOID:1933] synonym: "RSTS" RELATED ABBREVIATION [GARD:0007593] synonym: "Rubinstein syndrome" EXACT [DOID:1933] synonym: "Rubinstein-Taybi Syndrome" EXACT [DECIPHER:7] xref: DECIPHER:7 {source="MONDO:equivalentTo"} xref: DOID:1933 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10039281 {source="Orphanet:783/e", source="Orphanet:783"} xref: MESH:D012415 {source="Orphanet:783/e", source="MONDO:equivalentTo", source="DOID:1933", source="Orphanet:783"} xref: NCIT:C75466 {source="MONDO:equivalentTo", source="DOID:1933"} xref: OMIMPS:180849 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:783 {source="MONDO:equivalentTo", source="DOID:1933"} xref: SCTID:45582004 {source="MONDO:equivalentTo", source="DOID:1933"} xref: UMLS:C0035934 {source="Orphanet:783/e", source="MONDO:equivalentTo", source="DOID:1933", source="NCIT:C75466", source="Orphanet:783"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:783", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:783", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0018454 ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation is_a: MONDO:0100172 ! intellectual disability, autosomal dominant property_value: closeMatch http://identifiers.org/meddra/10039281 property_value: exactMatch DOID:1933 property_value: exactMatch http://identifiers.org/mesh/D012415 property_value: exactMatch http://identifiers.org/snomedct/45582004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035934 property_value: exactMatch https://omim.org/phenotypicSeries/PS180849 property_value: exactMatch NCIT:C75466 property_value: exactMatch Orphanet:783 property_value: excluded_subClassOf MONDO:0000426 {source="DOID:1933", source="MONDO:Redundant"} property_value: excluded_subClassOf MONDO:0005328 {source="MONDO:0020222-obsoleted"} property_value: excluded_subClassOf MONDO:0016565 {source="Orphanet:783"} property_value: excluded_subClassOf MONDO:0016756 {source="Orphanet:783"} property_value: excluded_subClassOf MONDO:0020237 {source="Orphanet:783"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0019189 name: inborn disorder of amino acid and other organic acid metabolism subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79062"} synonym: "disorder of amino acid and organic acid metabolism" EXACT [] synonym: "disorder of amino acid and other organic acid metabolism" RELATED [Orphanet:79062] xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:79062 {source="MONDO:equivalentTo"} xref: SCTID:237911005 {source="MONDO:equivalentTo"} xref: UMLS:C0342666 {source="MONDO:equivalentTo"} is_a: MONDO:0019052 {source="MONDO:Redundant", source="Orphanet:79062"} ! inborn errors of metabolism property_value: exactMatch http://identifiers.org/snomedct/237911005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342666 property_value: exactMatch Orphanet:79062 [Term] id: MONDO:0019190 name: juvenile polyposis of infancy def: "Juvenile polyposis of infancy (JPI) is the most severe form of juvenile gastrointestinal polyposis and is characterized by pancolonic hamartomatous polyposis from stomach to rectum, diagnosed in the first two years of life." [Orphanet:79076] subset: ordo_clinical_subtype {source="Orphanet:79076"} synonym: "infantile juvenile polyposis syndrome" EXACT [Orphanet:79076] synonym: "infantile onset juvenile polyposis syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/infantile] synonym: "juvenile polyposis syndrome of infancy" EXACT [MONDO:design_pattern, MONDO:patterns/infantile] xref: Orphanet:79076 {source="MONDO:equivalentTo"} xref: UMLS:CN205768 {source="MONDO:equivalentTo"} is_a: MONDO:0017380 {source="MONDO:Redundant", source="Orphanet:79076"} ! juvenile polyposis syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205768 property_value: exactMatch Orphanet:79076 [Term] id: MONDO:0019191 name: IgG4-related dacryoadenitis and sialadenitis def: "IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis." [Orphanet:79078] subset: gard_rare {source="GARD:0007043"} subset: ordo_disease {source="Orphanet:79078"} synonym: "chronic dacryoadenitis and sialadenitis" EXACT [Orphanet:79078] synonym: "Mikulicz disease" EXACT [MONDO:0001599, NCIT:C34819, Orphanet:79078] synonym: "Mikulicz disease (former)" RELATED [GARD:0007043] synonym: "Mikulicz syndrome (former)" RELATED [GARD:0007043] synonym: "Mikulicz's disease" EXACT [DOID:12900] synonym: "Mikulicz's disease (former)" RELATED [GARD:0007043] xref: DOID:12900 {source="MONDO:equivalentTo"} xref: MedDRA:10051457 {source="Orphanet:79078/e", source="Orphanet:79078"} xref: MedDRA:10052317 {source="Orphanet:79078/e", source="Orphanet:79078"} xref: MESH:D008882 {source="Orphanet:79078/e", source="DOID:12900", source="MONDO:equivalentTo", source="Orphanet:79078"} xref: NCIT:C34819 {source="DOID:12900", source="NCIT:C34819", source="MONDO:equivalentTo"} xref: Orphanet:79078 {source="MONDO:equivalentTo"} xref: SCTID:7826003 {source="DOID:12900", source="MONDO:equivalentTo"} xref: UMLS:C0026103 {source="Orphanet:79078/e", source="DOID:12900", source="NCIT:C34819", source="MONDO:equivalentTo", source="Orphanet:79078"} is_a: EFO:0009455 {source="DOID:12900", source="MONDO:Redundant"} ! lacrimal apparatus disease is_a: MONDO:0000587 ! autoimmune disease of ear, nose and throat is_a: MONDO:0018675 ! IgG4-related ophthalmic disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0020017"} ! rare property_value: closeMatch http://identifiers.org/meddra/10051457 property_value: closeMatch http://identifiers.org/meddra/10052317 property_value: exactMatch DOID:12900 property_value: exactMatch http://identifiers.org/mesh/D008882 property_value: exactMatch http://identifiers.org/snomedct/7826003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026103 property_value: exactMatch NCIT:C34819 property_value: exactMatch Orphanet:79078 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7043/igg4-related-dacryoadenitis-and-sialadenitis xsd:anyURI {source="GARD:0007043"} [Term] id: MONDO:0019192 name: AKT2-related familial partial lipodystrophy subset: ordo_disease {source="Orphanet:79085"} synonym: "AKT2-related FPLD" EXACT [Orphanet:79085] synonym: "familial partial lipodystrophy due to AKT2 mutations" RELATED [GARD:0012599] xref: Orphanet:79085 {source="MONDO:equivalentTo"} xref: UMLS:CN205772 {source="MONDO:equivalentTo"} xref: UMLS:CN536246 {source="MONDO:equivalentTo"} is_a: MONDO:0020088 {source="Orphanet:79085"} ! familial partial lipodystrophy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205772 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN536246 property_value: exactMatch Orphanet:79085 [Term] id: MONDO:0019193 name: acquired generalized lipodystrophy def: "Acquired generalized lipodystrophy belongs to a group of lipodystrophic syndromes characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of subcutaneous adipose tissue occurring exclusively at the extremities (face, legs, arms, palms and sometimes soles)." [Orphanet:79086] subset: gard_rare {source="GARD:0012603"} subset: ordo_disease {source="Orphanet:79086"} synonym: "acquired generalized lipodystrophy" EXACT [MONDO:patterns/acquired] synonym: "acquired lipoatrophic diabetes" EXACT [Orphanet:79086] synonym: "Lawrence syndrome" EXACT [DOID:0080300, Orphanet:79086] synonym: "Lawrence-Seip syndrome" EXACT [Orphanet:79086] xref: DOID:0080300 {source="MONDO:equivalentTo"} xref: NCIT:C131089 {source="MONDO:equivalentTo"} xref: Orphanet:79086 {source="MONDO:equivalentTo"} xref: SCTID:86907008 {source="MONDO:equivalentTo"} xref: UMLS:C0271693 {source="MONDO:equivalentTo", source="Orphanet:79086", source="NCIT:C131089", source="Orphanet:79086/e"} is_a: MONDO:0020089 {source="MONDO:Redundant", source="Orphanet:79086"} ! acquired lipodystrophy is_a: MONDO:0027766 ! generalized lipodystrophy intersection_of: MONDO:0027766 ! generalized lipodystrophy intersection_of: has_characteristic MONDO:0021141 ! acquired property_value: exactMatch DOID:0080300 property_value: exactMatch http://identifiers.org/snomedct/86907008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271693 property_value: exactMatch NCIT:C131089 property_value: exactMatch Orphanet:79086 property_value: excluded_subClassOf MONDO:0005015 {source="MONDO:0015885-obsoleted"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5723 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12603/acquired-generalized-lipodystrophy xsd:anyURI {source="GARD:0012603"} [Term] id: MONDO:0019195 name: hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome def: "Hereditary inclusion body myopathy type 3 is characterized by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia, and proximal muscle weakness. In adult cases, the muscular weakness is progressive." [Orphanet:79091] subset: ordo_disease {source="Orphanet:79091"} synonym: "Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia" RELATED [GARD:0009494] synonym: "Hereditary inclusion body myopathy type 3" RELATED [GARD:0009494] synonym: "hereditary inclusion body myopathy type 3" EXACT [Orphanet:79091] synonym: "HIBM3" EXACT ABBREVIATION [GARD:0009494, Orphanet:79091] synonym: "IBM3" EXACT ABBREVIATION [GARD:0009494, Orphanet:79091] synonym: "Inclusion body myopathy autosomal dominant" RELATED [GARD:0009494] synonym: "inclusion body myopathy type 3" EXACT [Orphanet:79091] synonym: "Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles" RELATED [GARD:0009494] xref: Orphanet:79091 {source="GARD:0009494", source="MONDO:equivalentTo"} xref: SCTID:724349009 {source="MONDO:equivalentTo"} xref: UMLS:CN205775 {source="MONDO:equivalentTo"} is_a: MONDO:0011577 ! myopathy, proximal, and ophthalmoplegia is_a: MONDO:0016112 {source="Orphanet:79091"} ! hereditary inclusion-body myopathy property_value: exactMatch http://identifiers.org/snomedct/724349009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205775 property_value: exactMatch Orphanet:79091 [Term] id: MONDO:0019197 name: folinic acid-responsive seizures def: "Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid." [Orphanet:79097] comment: Editor note: TODO request from CHEBI subset: ordo_disease {source="Orphanet:79097"} synonym: "Folinic acid responsive seizures" EXACT [https://orcid.org/0000-0001-5208-3432, https://www.epilepsydiagnosis.org/etiology/metabolic-groupoverview.html] xref: Orphanet:79097 {source="MONDO:equivalentTo"} xref: SCTID:717276003 {source="MONDO:equivalentTo"} xref: UMLS:CN205780 {source="MONDO:equivalentTo"} is_a: MONDO:0015653 ! monogenic epilepsy is_a: MONDO:0019253 {source="Orphanet:79097"} ! metabolic disease involving other neurotransmitter deficiency is_a: MONDO:0100033 {source="https://orcid.org/0000-0001-8486-0558"} ! metabolic epilepsy property_value: exactMatch http://identifiers.org/snomedct/717276003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205780 property_value: exactMatch Orphanet:79097 [Term] id: MONDO:0019200 name: retinitis pigmentosa def: "Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades." [Orphanet:791] subset: clingen subset: ordo_disease {source="Orphanet:791"} subset: prototype_pattern synonym: "pericentral pigmentary retinopathy" NARROW [DOID:10584] synonym: "retinitis pigmentosa" EXACT [] synonym: "Rod-cone dystrophy" RELATED [GARD:0005694] xref: DOID:10584 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.5 {source="Orphanet:791/inclusion", source="Orphanet:791", source="Orphanet:791/ntbt", source="MONDO:directSiblingOf"} xref: MedDRA:10038914 {source="Orphanet:791/e", source="Orphanet:791"} xref: MESH:D012174 {source="Orphanet:791/e", source="MONDO:equivalentTo", source="Orphanet:791", source="DOID:10584"} xref: NCIT:C85045 {source="MONDO:equivalentTo", source="DOID:10584"} xref: OMIM:268000 {source="Orphanet:791/e", source="MONDO:equivalentTo"} xref: OMIMPS:268000 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:791 {source="MONDO:equivalentTo", source="DOID:10584"} xref: SCTID:28835009 {source="MONDO:equivalentTo", source="DOID:10584"} xref: UMLS:C0035334 {source="Orphanet:791/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:791", source="NCIT:C85045", source="DOID:10584"} xref: UMLS:C4072872 {source="MONDO:equivalentTo"} is_a: MONDO:0019118 {source="MESH:D012174", source="Orphanet:791"} ! inherited retinal dystrophy is_a: MONDO:0019216 {source="PMID:33340416"} ! inborn disorder of amino acid transport property_value: closeMatch http://identifiers.org/meddra/10038914 property_value: exactMatch DOID:10584 property_value: exactMatch http://identifiers.org/mesh/D012174 property_value: exactMatch http://identifiers.org/snomedct/28835009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035334 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4072872 property_value: exactMatch https://omim.org/entry/268000 property_value: exactMatch https://omim.org/phenotypicSeries/PS268000 property_value: exactMatch NCIT:C85045 property_value: exactMatch Orphanet:791 property_value: excluded_subClassOf MONDO:0017688 {source="PMID:33340416"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5667 xsd:anyURI [Term] id: MONDO:0019201 name: thyrotoxic periodic paralysis def: "Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state." [Orphanet:79102] subset: gard_rare {source="GARD:0010814"} subset: ordo_disease {source="Orphanet:79102"} synonym: "thyrotoxic hypokalemic periodic paralysis" EXACT [Orphanet:79102] xref: MedDRA:10043788 {source="Orphanet:79102/e", source="Orphanet:79102"} xref: OMIMPS:188580 {source="MONDO:equivalentTo"} xref: Orphanet:79102 {source="MONDO:equivalentTo"} xref: SCTID:30967002 {source="MONDO:equivalentTo"} xref: UMLS:C0268446 {source="Orphanet:79102/e", source="MONDO:equivalentTo", source="Orphanet:79102"} is_a: MONDO:0000995 ! familial periodic paralysis property_value: closeMatch http://identifiers.org/meddra/10043788 property_value: exactMatch http://identifiers.org/snomedct/30967002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268446 property_value: exactMatch https://omim.org/phenotypicSeries/PS188580 property_value: exactMatch Orphanet:79102 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6008 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10814/thyrotoxic-periodic-paralysis xsd:anyURI {source="GARD:0010814"} [Term] id: MONDO:0019202 name: myxofibrosarcoma def: "A malignant fibroblastic neoplasm arising from the soft tissue. It is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma." [NCIT:C6496] subset: ordo_disease {source="Orphanet:79105"} synonym: "fibromyxosarcoma" EXACT [Orphanet:79105] synonym: "MFS" RELATED ABBREVIATION [ONCOTREE:MFS] synonym: "myxofibrosarcoma" EXACT [NCIT:C6496] synonym: "myxoid fibrous histiocytoma" EXACT [NCIT:C6496] synonym: "myxoid malignant fibrous histiocytoma" EXACT [NCIT:C6496, Orphanet:79105] synonym: "myxoid MFH" EXACT [NCIT:C6496] xref: DOID:0080534 {source="MONDO:equivalentTo"} xref: ICDO:8811/3 {source="NCIT:C6496"} xref: MedDRA:10066948 {source="Orphanet:79105", source="Orphanet:79105/e"} xref: NCIT:C6496 {source="MONDO:equivalentTo"} xref: ONCOTREE:MFS {source="MONDO:equivalentTo"} xref: Orphanet:79105 {source="MONDO:equivalentTo"} xref: SCTID:253042009 {source="MONDO:equivalentTo"} is_a: EFO:1001968 {source="NCIT:C6496/inferred", source="Orphanet:79105"} ! soft tissue sarcoma property_value: closeMatch http://identifiers.org/meddra/10066948 property_value: exactMatch DOID:0080534 property_value: exactMatch http://identifiers.org/snomedct/253042009 property_value: exactMatch NCIT:C6496 property_value: exactMatch Orphanet:79105 property_value: excluded_subClassOf MONDO:0016123 {source="Orphanet:79105"} [Term] id: MONDO:0019205 name: trichodysplasia-amelogenesis imperfecta syndrome def: "The association of amelogenesis imperfecta and a microscopically typical hair dysplasia has been found in several members of a family in two generations. Transmission is X-linked." [Orphanet:79129] subset: ordo_malformation_syndrome {source="Orphanet:79129"} xref: Orphanet:79129 {source="MONDO:equivalentTo"} xref: UMLS:CN205796 {source="MONDO:equivalentTo"} is_a: MONDO:0019287 {source="Orphanet:79129"} ! ectodermal dysplasia syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205796 property_value: exactMatch Orphanet:79129 [Term] id: MONDO:0019206 name: sparse hair-short stature-skin anomalies syndrome def: "Sparse hair-short stature-skin anomalies syndrome combines short stature, sparse hair, skin hyperpigmentation and urticaria-like reactions on the hands and arms. An upper central incisor, hypoplastic thumbs and/or palmoplantar hyperkeratosis may also be present. It is thought to be a rare form of ectodermal dysplasia and has been described at least once in a mother and her three sons. Transmission is autosomal dominant, or X-linked." [Orphanet:79132] subset: ordo_malformation_syndrome {source="Orphanet:79132"} xref: Orphanet:79132 {source="MONDO:equivalentObsolete"} xref: UMLS:CN205797 {source="MONDO:equivalentTo"} is_a: MONDO:0019287 {source="Orphanet:79132"} ! ectodermal dysplasia syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205797 [Term] id: MONDO:0019207 name: DEND syndrome def: "DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes." [Orphanet:79134] subset: ordo_disease {source="Orphanet:79134"} synonym: "developmental delay-epilepsy-neonatal diabetes syndrome" EXACT [Orphanet:79134] synonym: "K ATP associated developmental delay, epilepsy and neonatal diabetes" EXACT [NCIT:C131845] xref: NCIT:C131845 {source="MONDO:equivalentTo"} xref: Orphanet:79134 {source="MONDO:equivalentTo"} xref: SCTID:721088003 {source="MONDO:equivalentTo"} xref: UMLS:C1853564 {source="MONDO:equivalentTo", source="Orphanet:79134"} xref: UMLS:C4303593 {source="MONDO:equivalentTo"} is_a: MONDO:0100164 ! permanent neonatal diabetes mellitus property_value: exactMatch http://identifiers.org/snomedct/721088003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853564 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303593 property_value: exactMatch NCIT:C131845 property_value: exactMatch Orphanet:79134 property_value: excluded_subClassOf MONDO:0015650 {source="Orphanet:79134"} [Term] id: MONDO:0019211 name: isolated congenital anonychia def: "Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern." [Orphanet:79143] subset: ordo_disease {source="Orphanet:79143"} synonym: "autosomal recessive nonsyndromic congenital nail disorder-4" RELATED [GARD:0012930] synonym: "congenital anonychia" RELATED [GARD:0012930] synonym: "isolated anonychia" EXACT [Orphanet:79143] synonym: "nonsyndromic congenital nail disorder, 4" RELATED [GARD:0012930] xref: Orphanet:79143 {source="MONDO:equivalentTo"} is_a: MONDO:0019284 {source="Orphanet:79143"} ! inherited isolated nail anomaly property_value: exactMatch Orphanet:79143 [Term] id: MONDO:0019212 name: disseminated superficial actinic porokeratosis def: "Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities." [Orphanet:79152] subset: ordo_disease {source="Orphanet:79152"} xref: ICD9:692.75 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: Orphanet:79152 {source="MONDO:equivalentTo"} xref: SCTID:41495000 {source="MONDO:equivalentTo"} is_a: EFO:1000757 {source="Orphanet:79152"} ! porokeratosis relationship: has_characteristic MONDO:0022202 ! disseminated property_value: exactMatch http://identifiers.org/snomedct/41495000 property_value: exactMatch Orphanet:79152 [Term] id: MONDO:0019213 name: cerebral organic aciduria def: "A inherited organic acidemia that involves the brain." [MONDO:patterns/location] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:79158"} synonym: "brain inherited organic acidemia" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "inherited organic acidemia of brain" EXACT [MONDO:design_pattern] xref: Orphanet:79158 {source="MONDO:equivalentTo"} is_a: EFO:0005774 ! brain disease is_a: MONDO:0000688 {source="MONDO:Redundant", source="Orphanet:79158"} ! inborn organic aciduria property_value: exactMatch Orphanet:79158 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0019214 name: inborn carbohydrate metabolic disorder def: "An inherited metabolic disease that is has its basis in the disruption of carbohydrate metabolic process." [MONDO:patterns/inborn_metabolic] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79161"} synonym: "carbohydrate metabolic disorder" RELATED [DOID:2978] synonym: "carbohydrate metabolism disorder" EXACT [NCIT:C97089] synonym: "disorder of carbohydrate metabolism" RELATED [Orphanet:79161] synonym: "disorder of carbohydrate transport and metabolism" EXACT [DOID:2978] synonym: "inborn carbohydrate metabolic process disorder" EXACT [] synonym: "inborn carbohydrate metabolism disorder" EXACT [DOID:2978] synonym: "inborn error of carbohydrate metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn errors of carbohydrate metabolism" EXACT [DOID:2978] synonym: "rare inborn error of carbohydrate metabolic process" EXACT [MONDO:patterns/inborn_metabolic] xref: DOID:2978 {source="MONDO:equivalentTo"} xref: EFO:1000061 {source="MONDO:equivalentTo"} xref: ICD9:271.8 {source="DOID:2978"} xref: MedDRA:10061023 {source="Orphanet:79161", source="Orphanet:79161/e"} xref: MESH:D002239 {source="MONDO:equivalentTo", source="DOID:2978"} xref: NCIT:C97089 {source="MONDO:equivalentTo"} xref: Orphanet:79161 {source="MONDO:equivalentTo"} is_a: MONDO:0019052 {source="DOID:2978", source="MESH:D002239", source="MONDO:Redundant", source="Orphanet:79161"} ! inborn errors of metabolism is_a: MONDO:0037792 ! carbohydrate metabolism disease property_value: closeMatch http://identifiers.org/meddra/10061023 property_value: exactMatch DOID:2978 property_value: exactMatch http://identifiers.org/mesh/D002239 property_value: exactMatch NCIT:C97089 property_value: exactMatch Orphanet:79161 [Term] id: MONDO:0019215 name: classic organic aciduria subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79163"} xref: Orphanet:79163 {source="MONDO:equivalentTo"} is_a: MONDO:0000688 {source="Orphanet:79163"} ! inborn organic aciduria property_value: exactMatch Orphanet:79163 [Term] id: MONDO:0019216 name: inborn disorder of amino acid transport subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79166"} synonym: "disorder of amino acid absorption and transport" RELATED [Orphanet:79166] synonym: "inborn disorder of amino acid absorption and transport" EXACT [] xref: ICD9:270.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: Orphanet:79166 {source="MONDO:equivalentTo"} xref: SCTID:16784003 {source="MONDO:equivalentTo"} xref: UMLS:C0268641 {source="Orphanet:79166/e", source="MONDO:equivalentTo", source="Orphanet:79166"} is_a: MONDO:0004736 {source="PMID:33340416"} ! inborn disorder of amino acid metabolism property_value: exactMatch http://identifiers.org/snomedct/16784003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268641 property_value: exactMatch Orphanet:79166 property_value: excluded_subClassOf MONDO:0019189 {source="Orphanet:79166"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0019218 name: inborn disorder of bile acid synthesis def: "Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis." [Orphanet:79168] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79168"} synonym: "disorder of bile acid synthesis" RELATED [Orphanet:79168] synonym: "inborn bile acid biosynthetic process disorder" EXACT [] synonym: "inborn error of bile acid biosynthetic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn errors of bile acid synthesis" RELATED [GTR:AN0923838] synonym: "rare inborn error of bile acid biosynthetic process" EXACT [MONDO:patterns/inborn_metabolic] xref: GTR:AN0923838 xref: Orphanet:79168 {source="MONDO:equivalentTo"} xref: UMLS:CN231736 {source="MONDO:equivalentTo"} xref: UMLS:CN544763 {source="MONDO:equivalentTo"} is_a: MONDO:0019189 ! inborn disorder of amino acid and other organic acid metabolism is_a: MONDO:0019256 {source="Orphanet:79168"} ! sterol metabolism disorder is_a: MONDO:0045022 ! disorder of organic acid metabolism property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN231736 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN544763 property_value: exactMatch Orphanet:79168 [Term] id: MONDO:0019219 name: inborn disorder of neurotransmitter metabolism and transport subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79169"} synonym: "disorder of neurotransmitter metabolism and transport" RELATED [Orphanet:79169] xref: Orphanet:79169 {source="MONDO:equivalentTo"} xref: UMLS:CN227586 {source="MONDO:equivalentTo"} is_a: MONDO:0019250 {source="Orphanet:79169"} ! inborn disorder of biogenic amine metabolism and transport property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227586 property_value: exactMatch Orphanet:79169 [Term] id: MONDO:0019220 name: inborn disorder of cobalamin metabolism and transport subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79171"} synonym: "disorder of cobalamin metabolism and transport" RELATED [Orphanet:79171] synonym: "inborn disorder of cobalamin metabolism and transport" EXACT [] xref: Orphanet:79171 {source="MONDO:equivalentTo"} xref: UMLS:CN043592 {source="MONDO:equivalentTo"} xref: UMLS:CN227587 {source="MONDO:equivalentTo"} is_a: MONDO:0017758 {source="Orphanet:79171"} ! disorder of vitamin and non-protein cofactor absorption and transport property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN043592 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227587 property_value: exactMatch Orphanet:79171 [Term] id: MONDO:0019222 name: inborn disorder of methionine cycle and sulfur amino acid metabolism def: "An inherited metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process." [MONDO:patterns/inborn_metabolic] comment: Editor note: check this subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79173"} synonym: "cytosolic methyl group transfer or sulfur amino acid metabolism disorder" EXACT [Orphanet:79173] synonym: "cytosolic methyl group transfer or sulphur amino acid metabolism disorder" EXACT OMO:0003005 [] synonym: "disorder of methionine cycle and sulfur amino acid metabolism" RELATED [Orphanet:79173] synonym: "disorder of methionine cycle and sulphur amino acid metabolism" RELATED OMO:0003005 [] synonym: "inborn error of sulfur amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn error of sulphur amino acid metabolic process" EXACT OMO:0003005 [] synonym: "inborn sulfur amino acid metabolic process disorder" EXACT [] synonym: "inborn sulphur amino acid metabolic process disorder" EXACT OMO:0003005 [] synonym: "rare inborn error of sulfur amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "rare inborn error of sulphur amino acid metabolic process" EXACT OMO:0003005 [] xref: ICD9:270.4 {source="MONDO:i2s"} xref: Orphanet:79173 {source="MONDO:equivalentTo"} xref: SCTID:28882002 {source="MONDO:equivalentTo"} xref: UMLS:CN227589 {source="MONDO:equivalentTo"} is_a: MONDO:0019189 {source="Orphanet:79173"} ! inborn disorder of amino acid and other organic acid metabolism is_a: MONDO:0045022 ! disorder of organic acid metabolism is_a: MONDO:0056803 ! sulfur metabolism disease property_value: exactMatch http://identifiers.org/snomedct/28882002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227589 property_value: exactMatch Orphanet:79173 [Term] id: MONDO:0019223 name: disorder of fatty acid and ketone body metabolism subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79174"} synonym: "disorder of fatty acid oxidation and ketone body metabolism" RELATED [Orphanet:79174] synonym: "inborn disorder of fatty acid oxidation and ketone body metabolism" EXACT [Orphanet:79174] xref: Orphanet:79174 {source="MONDO:equivalentTo"} xref: UMLS:CN227590 {source="MONDO:equivalentTo"} is_a: MONDO:0019243 {source="Orphanet:79174"} ! inborn disorder of energy metabolism property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227590 property_value: exactMatch Orphanet:79174 [Term] id: MONDO:0019224 name: inborn disorder of gamma-aminobutyric acid metabolism def: "An inherited metabolic disease that is has its basis in the disruption of gamma-aminobutyric acid metabolic process." [MONDO:patterns/inborn_metabolic] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:79175"} synonym: "disorder of GABA metabolism" EXACT [Orphanet:79175] synonym: "disorder of gamma-aminobutyric acid metabolism" RELATED [Orphanet:79175] synonym: "inborn error of gamma-aminobutyric acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn gamma-aminobutyric acid metabolic process disorder" EXACT [] synonym: "rare inborn error of gamma-aminobutyric acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] xref: Orphanet:79175 {source="MONDO:equivalentTo"} xref: UMLS:CN227591 {source="MONDO:equivalentTo"} is_a: MONDO:0019189 ! inborn disorder of amino acid and other organic acid metabolism is_a: MONDO:0019250 {source="Orphanet:79175"} ! inborn disorder of biogenic amine metabolism and transport is_a: MONDO:0037871 ! amino acid metabolism disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227591 property_value: exactMatch Orphanet:79175 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0019225 name: disorder of gluconeogenesis def: "An inherited metabolic disease that is has its basis in the disruption of gluconeogenesis." [MONDO:patterns/inborn_metabolic] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79177"} synonym: "gluconeogenesis disorder" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn error of gluconeogenesis" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn gluconeogenesis disorder" EXACT [] synonym: "rare inborn error of gluconeogenesis" EXACT [MONDO:patterns/inborn_metabolic] xref: Orphanet:79177 {source="MONDO:equivalentTo"} xref: UMLS:CN227592 {source="MONDO:equivalentTo"} is_a: EFO:0009406 ! glucose metabolism disease is_a: MONDO:0019214 {source="MONDO:Redundant", source="Orphanet:79177", source="PMID:33340416"} ! inborn carbohydrate metabolic disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227592 property_value: exactMatch Orphanet:79177 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0019226 name: glucose transport disorder def: "An inherited metabolic disease that is has its basis in the disruption of glucose transport." [MONDO:patterns/inborn_metabolic] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79178"} synonym: "inborn error of glucose transport" EXACT [MONDO:patterns/inborn_metabolic] synonym: "rare inborn error of glucose transport" RELATED [MONDO:patterns/inborn_metabolic] xref: Orphanet:79178 {source="MONDO:equivalentTo"} xref: UMLS:CN227593 {source="MONDO:equivalentTo"} is_a: MONDO:0017706 {source="Orphanet:79178"} ! disorder of carbohydrate transmembrane transport and absorption is_a: MONDO:0045015 ! carbohydrate transport disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227593 property_value: exactMatch Orphanet:79178 [Term] id: MONDO:0019227 name: inborn disorder of glycerol metabolism def: "An inherited metabolic disease that is has its basis in the disruption of glycerol metabolic process." [MONDO:patterns/inborn_metabolic] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:79179"} synonym: "disorder of glycerol metabolism" RELATED [Orphanet:79179] synonym: "inborn error of glycerol metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn glycerol metabolic process disorder" EXACT [] synonym: "rare inborn error of glycerol metabolic process" EXACT [MONDO:patterns/inborn_metabolic] xref: Orphanet:79179 {source="MONDO:equivalentTo"} xref: UMLS:C0342762 {source="Orphanet:79179/e", source="MONDO:relatedTo", source="Orphanet:79179"} is_a: MONDO:0019214 {source="MONDO:Redundant", source="Orphanet:79179"} ! inborn carbohydrate metabolic disorder is_a: MONDO:0037807 ! glycerol metabolism disease property_value: exactMatch Orphanet:79179 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0019228 name: inborn disorder of histidine metabolism def: "An inherited metabolic disease that is has its basis in the disruption of histidine metabolic process." [MONDO:patterns/inborn_metabolic] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79181"} synonym: "disorder of histidine metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "disorder of histidine metabolism" EXACT [Orphanet:79181] synonym: "disturbance of histidine metabolism" EXACT [DOID:9265] synonym: "histidine metabolic process disease" EXACT [MONDO:design_pattern] synonym: "histidine metabolism disease" EXACT [DOID:9265, MONDO:0004738] synonym: "inborn disorder of histidine metabolism" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn error of histidine metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn error of histidine metabolism" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn histidine metabolic process disorder" EXACT [] synonym: "rare inborn error of histidine metabolic process" EXACT [MONDO:patterns/inborn_metabolic] xref: DOID:9265 {source="MONDO:equivalentTo"} xref: ICD10CM:E70.40 {source="MONDO:equivalentTo", source="DOID:9265"} xref: ICD9:270.5 {source="DOID:9265"} xref: Orphanet:79181 {source="MONDO:equivalentTo"} xref: SCTID:44176004 {source="MONDO:equivalentTo", source="DOID:9265"} xref: UMLS:C0268512 {source="Orphanet:79181", source="MONDO:equivalentTo", source="DOID:9265", source="Orphanet:79181/e"} is_a: MONDO:0004736 {source="DOID:9265", source="MONDO:Entailed", source="MONDO:Redundant"} ! inborn disorder of amino acid metabolism is_a: MONDO:0019189 ! inborn disorder of amino acid and other organic acid metabolism is_a: MONDO:0037871 ! amino acid metabolism disease property_value: exactMatch DOID:9265 property_value: exactMatch http://identifiers.org/snomedct/44176004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268512 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E70.40 property_value: exactMatch Orphanet:79181 property_value: excluded_subClassOf MONDO:0019189 {source="Orphanet:79181"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5364 xsd:anyURI [Term] id: MONDO:0019229 name: inborn disorder of ketolysis def: "An inherited metabolic disease that is has its basis in the disruption of ketone body catabolic process." [MONDO:patterns/inborn_metabolic] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79183"} synonym: "disorder of ketolysis" BROAD [Orphanet:79183] synonym: "inborn error of ketone body catabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn ketone body catabolic process disorder" EXACT [] synonym: "rare inborn error of ketone body catabolic process" EXACT [MONDO:patterns/inborn_metabolic] xref: Orphanet:79183 {source="MONDO:equivalentTo"} xref: UMLS:CN227594 {source="MONDO:equivalentTo"} is_a: MONDO:0002525 ! inherited lipid metabolism disorder is_a: MONDO:0019223 {source="Orphanet:79183"} ! disorder of fatty acid and ketone body metabolism property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227594 property_value: exactMatch Orphanet:79183 [Term] id: MONDO:0019230 name: inborn disorder of ornithine or proline metabolism subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79185"} synonym: "disorder of ornithine or proline metabolism" RELATED [Orphanet:79185] xref: Orphanet:79185 {source="MONDO:equivalentTo"} xref: UMLS:CN227595 {source="MONDO:equivalentTo"} is_a: MONDO:0019189 {source="Orphanet:79185"} ! inborn disorder of amino acid and other organic acid metabolism property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227595 property_value: exactMatch Orphanet:79185 [Term] id: MONDO:0019231 name: inborn disorder of pentose phosphate metabolism subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79186"} synonym: "disorder of pentose phosphate metabolism" RELATED [Orphanet:79186] xref: Orphanet:79186 {source="MONDO:equivalentTo"} xref: UMLS:CN227596 {source="MONDO:equivalentTo"} is_a: MONDO:0018605 {source="Orphanet:79186"} ! disorders of pentose/polyol metabolism property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227596 property_value: exactMatch Orphanet:79186 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0019232 name: inborn disorder of peptide metabolism subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79187"} synonym: "disorder of peptide metabolism" RELATED [Orphanet:79187] xref: Orphanet:79187 {source="MONDO:equivalentTo"} xref: UMLS:CN227597 {source="MONDO:equivalentTo"} is_a: MONDO:0100473 {source="PMID:33340416"} ! disorder of peptide and amine metabolism property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227597 property_value: exactMatch Orphanet:79187 property_value: excluded_subClassOf MONDO:0019189 {source="Orphanet:79187"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0019233 name: disorder of peroxisomal beta oxidation subset: disease_grouping subset: gard_rare {source="GARD:0012470"} subset: ordo_group_of_disorders {source="Orphanet:79188"} synonym: "disorder of peroxisomal beta oxidation" EXACT [https://www.clinicalgenome.org/affiliation/40049/] xref: Orphanet:79188 {source="MONDO:equivalentTo"} xref: UMLS:CN227598 {source="MONDO:equivalentTo"} is_a: MONDO:0100257 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisomal single enzyme/protein defect property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227598 property_value: exactMatch Orphanet:79188 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12470/peroxisomal-beta-oxidation-disorder xsd:anyURI {source="GARD:0012470"} [Term] id: MONDO:0019234 name: peroxisome biogenesis disorder def: "Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD)." [Orphanet:79189] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79189"} synonym: "cerebrohepatorenal syndrome" NARROW [https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, MONDO:cjm] synonym: "disorders of peroxisome biogenesis" RELATED [GARD:0009473] synonym: "PBD, ZSS" EXACT [https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, MONDO:cjm] synonym: "PBD-Zellweger spectrum disorder" RELATED [GARD:0011890] synonym: "PBD-ZSD" EXACT [https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, MONDO:cjm] synonym: "PBD-ZSS" RELATED [GARD:0011890] synonym: "peroxisomal biogenesis disorders" EXACT [GARD:0009473] synonym: "peroxisomal biogenesis disorders, Zellweger syndrome spectrum" EXACT [GARD:0011890] synonym: "peroxisome biogenesis disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/] synonym: "peroxisome biogenesis disorder spectrum" EXACT [Orphanet:79189] synonym: "peroxisome biogenesis disorder-Zellweger syndrome spectrum" EXACT [GARD:0011890] synonym: "peroxisome biogenesis disorders, Zellweger syndrome spectrum" EXACT [https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, MONDO:cjm] synonym: "Zellweger spectrum" RELATED [https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, MONDO:cjm] synonym: "Zellweger spectrum disorder" RELATED [https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, MONDO:cjm] synonym: "Zellweger spectrum disorders" RELATED [GARD:0011890] synonym: "Zellweger syndrome spectrum" RELATED [https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, MONDO:cjm] synonym: "ZSD" RELATED ABBREVIATION [https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, MONDO:cjm] xref: DOID:0080377 {source="MONDO:equivalentTo"} xref: MESH:C531857 {source="MONDO:equivalentTo"} xref: MESH:C536664 {source="Orphanet:79189/e", source="MONDO:equivalentTo", source="Orphanet:79189"} xref: NCIT:C146639 {source="MONDO:equivalentTo", source="https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/24"} xref: NCIT:C155747 {source="MONDO:equivalentTo"} xref: OMIMPS:214100 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:79189 {source="MONDO:equivalentTo"} xref: SCTID:742876007 {source="MONDO:equivalentTo"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0002254 {source="NCIT:C85239"} ! syndromic disease is_a: MONDO:0019046 {source="NCIT:C146639", source="Orphanet:79189", source="https://rarediseases.org/rare-diseases/leukodystrophy/"} ! leukodystrophy is_a: MONDO:0019053 {source="Orphanet:79189"} ! peroxisomal disease is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary peripheral neuropathy property_value: exactMatch DOID:0080377 property_value: exactMatch http://identifiers.org/mesh/C531857 property_value: exactMatch http://identifiers.org/mesh/C536664 property_value: exactMatch http://identifiers.org/snomedct/742876007 property_value: exactMatch https://omim.org/phenotypicSeries/PS214100 property_value: exactMatch NCIT:C146639 property_value: exactMatch NCIT:C155747 property_value: exactMatch Orphanet:79189 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0019235 name: inborn disorder of phenylalanine and tyrosine metabolism subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79190"} synonym: "disorder of phenylalanin or tyrosine metabolism" RELATED [Orphanet:79190] synonym: "inborn disorder of phenylalanin or tyrosine metabolism" EXACT [MONDO:patterns/inborn_metabolic] xref: Orphanet:79190 {source="MONDO:equivalentTo"} xref: UMLS:CN227599 {source="MONDO:equivalentTo"} is_a: MONDO:0004736 {source="MONDO:0004736"} ! inborn disorder of amino acid metabolism property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227599 property_value: exactMatch Orphanet:79190 property_value: excluded_subClassOf MONDO:0019189 {source="Orphanet:79190"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0019236 name: inborn disorder of purine metabolism def: "An inherited metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process." [MONDO:patterns/inborn_metabolic] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79191"} synonym: "disorder of purine metabolism" RELATED [Orphanet:79191] synonym: "inborn error of purine nucleobase metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn purine nucleobase metabolic process disorder" EXACT [] synonym: "rare inborn error of purine nucleobase metabolic process" EXACT [MONDO:patterns/inborn_metabolic] xref: MedDRA:10061476 {source="Orphanet:79191", source="Orphanet:79191/e"} xref: Orphanet:79191 {source="MONDO:equivalentTo"} xref: UMLS:C0268104 {source="Orphanet:79191", source="MONDO:relatedTo", source="Orphanet:79191/e"} is_a: MONDO:0019254 {source="Orphanet:79191"} ! inborn disorder of purine or pyrimidine metabolism is_a: MONDO:0037829 ! purine metabolism disease property_value: closeMatch http://identifiers.org/meddra/10061476 property_value: exactMatch Orphanet:79191 [Term] id: MONDO:0019237 name: inborn disorder of pyridoxine metabolism def: "An inherited metabolic disease that is has its basis in the disruption of pyridoxine metabolic process." [MONDO:patterns/inborn_metabolic] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79192"} synonym: "disorder of pyridoxine metabolism" RELATED [Orphanet:79192] synonym: "inborn error of pyridoxine metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn pyridoxine metabolic process disorder" EXACT [] synonym: "rare inborn error of pyridoxine metabolic process" EXACT [MONDO:patterns/inborn_metabolic] xref: Orphanet:79192 {source="MONDO:equivalentTo"} xref: UMLS:CN227600 {source="MONDO:equivalentTo"} is_a: EFO:0005596 ! vitamin metabolic disorder is_a: MONDO:0019250 {source="Orphanet:79192"} ! inborn disorder of biogenic amine metabolism and transport property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227600 property_value: exactMatch Orphanet:79192 [Term] id: MONDO:0019238 name: inborn disorder of pyrimidine metabolism def: "ANPM" [Orphanet:79193] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79193"} synonym: "disorder of pyrimidine metabolism" RELATED [Orphanet:79193] synonym: "inborn error of pyrimidine nucleobase metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn pyrimidine nucleobase metabolic process disorder" EXACT [] synonym: "pyrimidine metabolic disorder" EXACT [MONDO:0000475] synonym: "rare inborn error of pyrimidine nucleobase metabolic process" EXACT [MONDO:patterns/inborn_metabolic] xref: DOID:0050832 {source="MONDO:equivalentTo"} xref: MedDRA:10070969 {source="Orphanet:79193", source="Orphanet:79193/e"} xref: Orphanet:79193 {source="MONDO:equivalentTo"} xref: UMLS:C0268127 {source="MONDO:relatedTo", source="Orphanet:79193", source="Orphanet:79193/e"} is_a: MONDO:0019254 {source="Orphanet:79193"} ! inborn disorder of purine or pyrimidine metabolism is_a: MONDO:0037937 ! pyrimidine metabolism disease property_value: closeMatch http://identifiers.org/meddra/10070969 property_value: exactMatch DOID:0050832 property_value: exactMatch Orphanet:79193 [Term] id: MONDO:0019239 name: inborn disorder of serine family metabolism def: "An inherited metabolic disease that is has its basis in the disruption of serine family amino acid metabolic process." [MONDO:patterns/inborn_metabolic] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79194"} synonym: "disorder of serine or glycine metabolism" RELATED [Orphanet:79194] synonym: "inborn disorder of serine or glycine metabolism" EXACT [Orphanet:79194] synonym: "inborn error of serine family amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn serine family amino acid metabolic process disorder" EXACT [] synonym: "rare inborn error of serine family amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] xref: Orphanet:79194 {source="MONDO:equivalentTo"} xref: UMLS:CN227601 {source="MONDO:equivalentTo"} is_a: MONDO:0019189 {source="Orphanet:79194"} ! inborn disorder of amino acid and other organic acid metabolism is_a: MONDO:0037871 ! amino acid metabolism disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227601 property_value: exactMatch Orphanet:79194 [Term] id: MONDO:0019240 name: sterol biosynthesis disorder def: "An inherited metabolic disease that is has its basis in the disruption of sterol biosynthetic process." [MONDO:patterns/inborn_metabolic] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79195"} synonym: "inborn error of sterol biosynthetic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn sterol biosynthetic process disorder" EXACT [] synonym: "rare inborn error of sterol biosynthetic process" EXACT [MONDO:patterns/inborn_metabolic] xref: Orphanet:79195 {source="MONDO:equivalentTo"} xref: UMLS:CN227602 {source="MONDO:equivalentTo"} is_a: MONDO:0015327 {source="Orphanet:79195"} ! developmental anomaly of metabolic origin is_a: MONDO:0019256 {source="MONDO:Redundant", source="Orphanet:79195"} ! sterol metabolism disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227602 property_value: exactMatch Orphanet:79195 [Term] id: MONDO:0019241 name: inborn disorder of the gamma-glutamyl cycle comment: Editor note: request from GO subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79196"} synonym: "disorder of gamma-glutamyl cycle" RELATED [] synonym: "disorder of the gamma-glutamyl cycle" RELATED [Orphanet:79196] xref: Orphanet:79196 {source="MONDO:equivalentTo"} xref: SCTID:9128006 {source="MONDO:equivalentTo"} xref: UMLS:C0268517 {source="MONDO:equivalentTo", source="Orphanet:79196", source="Orphanet:79196/e"} is_a: MONDO:0019189 {source="Orphanet:79196"} ! inborn disorder of amino acid and other organic acid metabolism property_value: exactMatch http://identifiers.org/snomedct/9128006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268517 property_value: exactMatch Orphanet:79196 [Term] id: MONDO:0019242 name: inborn disorder of branched-chain amino acid metabolism def: "An inherited metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process." [MONDO:patterns/inborn_metabolic] comment: Editor note: consider parent for non-inborn form subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79197"} synonym: "branched chain amino acid metabolism disorder" RELATED [] synonym: "disorder of branched chain amino acid metabolism" RELATED [] synonym: "disorder of branched-chain amino acid metabolism" EXACT [Orphanet:79197] synonym: "inborn branched-chain amino acid metabolic process disorder" EXACT [] synonym: "inborn disorder of branched-chain amino acid metabolism" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn error of branched-chain amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "rare inborn error of branched-chain amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] xref: Orphanet:79197 {source="MONDO:equivalentTo"} xref: SCTID:116020001 {source="MONDO:equivalentTo"} xref: UMLS:C0342712 {source="MONDO:equivalentTo", source="Orphanet:79197", source="Orphanet:79197/e"} is_a: MONDO:0004736 {source="PMID:33340416"} ! inborn disorder of amino acid metabolism is_a: MONDO:0019189 ! inborn disorder of amino acid and other organic acid metabolism is_a: MONDO:0037871 ! amino acid metabolism disease property_value: exactMatch http://identifiers.org/snomedct/116020001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342712 property_value: exactMatch Orphanet:79197 property_value: excluded_subClassOf MONDO:0019189 {source="Orphanet:79197"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0019243 name: inborn disorder of energy metabolism def: "An inherited metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy." [MONDO:patterns/inborn_metabolic] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79200"} synonym: "disorder of energy metabolism" RELATED [Orphanet:79200] synonym: "inborn error of generation of precursor metabolites and energy" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn generation of precursor metabolites and energy disorder" EXACT [] synonym: "rare inborn error of generation of precursor metabolites and energy" EXACT [MONDO:patterns/inborn_metabolic] xref: Orphanet:79200 {source="MONDO:equivalentTo"} xref: UMLS:CN227604 {source="MONDO:equivalentTo"} is_a: MONDO:0019052 {source="MONDO:Redundant", source="Orphanet:79200"} ! inborn errors of metabolism property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227604 property_value: exactMatch Orphanet:79200 [Term] id: MONDO:0019245 name: lysosomal lipid storage disorder def: "An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes." [PMID:21502308, Wikipedia:Lipid_storage_disorder] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79204"} synonym: "inborn error of lipid storage" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn lipid storage disorder" EXACT [DOID:9455] synonym: "lipid storage disease" EXACT [DOID:9455] synonym: "lipidoses" RELATED [] synonym: "lipidosis" RELATED [] synonym: "lipoid storage diseas" EXACT [DOID:9455] synonym: "lipoid storage disease" EXACT [] synonym: "lipoid storage disorder" EXACT [] synonym: "lipoidoses" RELATED [] synonym: "lipoidosis" RELATED [DOID:9455] synonym: "rare inborn error of lipid storage" EXACT [MONDO:patterns/inborn_metabolic] xref: DOID:9455 {source="MONDO:equivalentTo"} xref: ICD9:272.7 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9455"} xref: ICD9:272.8 {source="DOID:9455"} xref: MESH:D008064 {source="MONDO:equivalentTo", source="DOID:9455"} xref: Orphanet:79204 {source="MONDO:equivalentTo"} xref: SCTID:10741005 {source="MONDO:equivalentTo", source="DOID:9455"} xref: UMLS:CN205834 {source="MONDO:equivalentTo"} is_a: MONDO:0002525 {source="MONDO:Redundant"} ! inherited lipid metabolism disorder is_a: MONDO:0002561 {source="DOID:9455", source="Orphanet:79204/inferred"} ! lysosomal storage disease property_value: exactMatch DOID:9455 property_value: exactMatch http://identifiers.org/mesh/D008064 property_value: exactMatch http://identifiers.org/snomedct/10741005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205834 property_value: exactMatch Orphanet:79204 property_value: excluded_subClassOf MONDO:0019255 {source="Orphanet:79204"} [Term] id: MONDO:0019246 name: inborn disorder of lysosomal amino acid transport subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79207"} synonym: "disorder of lysosomal amino acid transport" RELATED [Orphanet:79207] xref: Orphanet:79207 {source="MONDO:equivalentTo"} xref: UMLS:CN227605 {source="MONDO:equivalentTo"} is_a: MONDO:0002561 {source="Orphanet:79207"} ! lysosomal storage disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227605 property_value: exactMatch Orphanet:79207 [Term] id: MONDO:0019248 name: mucolipidosis def: "A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations." [NCIT:C61267] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79212"} xref: DOID:0080488 {source="MONDO:equivalentTo"} xref: MESH:D009081 {source="Orphanet:79212/e", source="MONDO:equivalentTo", source="Orphanet:79212"} xref: NCIT:C61267 {source="MONDO:equivalentTo"} xref: Orphanet:79212 {source="MONDO:equivalentTo"} xref: SCTID:70528007 {source="MONDO:equivalentTo"} xref: UMLS:C0026697 {source="Orphanet:79212/e", source="MONDO:equivalentTo", source="Orphanet:79212", source="NCIT:C61267"} is_a: MONDO:0015327 {source="Orphanet:79212"} ! developmental anomaly of metabolic origin is_a: MONDO:0017731 {source="Orphanet:79212"} ! glycoproteinosis property_value: exactMatch DOID:0080488 property_value: exactMatch http://identifiers.org/mesh/D009081 property_value: exactMatch http://identifiers.org/snomedct/70528007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026697 property_value: exactMatch NCIT:C61267 property_value: exactMatch Orphanet:79212 [Term] id: MONDO:0019249 name: mucopolysaccharidosis def: "A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies." [NCIT:C61259] subset: disease_grouping subset: gard_rare {source="GARD:0007065"} subset: ordo_group_of_disorders {source="Orphanet:79213"} synonym: "MPS" RELATED ABBREVIATION [GARD:0007065] synonym: "mucopolysaccharidoses" EXACT [OMIMPS:607014] synonym: "mucopolysaccharidosis" EXACT [NCIT:C61259] xref: DOID:12798 {source="MONDO:equivalentTo"} xref: ICD9:277.5 {source="DOID:12798", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10028093 {source="Orphanet:79213/e", source="Orphanet:79213"} xref: MESH:D009083 {source="DOID:12798", source="Orphanet:79213/e", source="MONDO:equivalentTo", source="Orphanet:79213"} xref: NCIT:C61259 {source="DOID:12798", source="MONDO:equivalentTo"} xref: OMIMPS:607014 {source="MONDO:equivalentTo"} xref: Orphanet:79213 {source="DOID:12798", source="MONDO:equivalentTo"} xref: SCTID:11380006 {source="DOID:12798", source="MONDO:equivalentTo"} xref: UMLS:C0026703 {source="NCIT:C61259", source="DOID:12798", source="Orphanet:79213/e", source="MONDO:equivalentTo", source="Orphanet:79213"} is_a: MONDO:0002561 {source="DOID:12798", source="MESH:D009083", source="NCIT:C61259", source="Orphanet:79213"} ! lysosomal storage disease is_a: MONDO:0015327 {source="Orphanet:79213"} ! developmental anomaly of metabolic origin is_a: MONDO:0019214 {source="MESH:D009083", source="NCIT:C61259"} ! inborn carbohydrate metabolic disorder is_a: MONDO:0100365 {source="https://orcid.org/0000-0001-5208-3432"} ! mucopolysaccharidosis or mucopolysaccharidosis-like disorder property_value: closeMatch http://identifiers.org/meddra/10028093 property_value: exactMatch DOID:12798 property_value: exactMatch http://identifiers.org/mesh/D009083 property_value: exactMatch http://identifiers.org/snomedct/11380006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026703 property_value: exactMatch https://omim.org/phenotypicSeries/PS607014 property_value: exactMatch NCIT:C61259 property_value: exactMatch Orphanet:79213 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7065/mucopolysaccharidosis xsd:anyURI {source="GARD:0007065"} [Term] id: MONDO:0019250 name: inborn disorder of biogenic amine metabolism and transport subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79214"} synonym: "disorder of biogenic amine metabolism and transport" RELATED [Orphanet:79214] xref: Orphanet:79214 {source="MONDO:equivalentTo"} xref: UMLS:CN227606 {source="MONDO:equivalentTo"} is_a: MONDO:0019052 {source="Orphanet:79214"} ! inborn errors of metabolism property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227606 property_value: exactMatch Orphanet:79214 [Term] id: MONDO:0019251 name: oligosaccharidosis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79215"} xref: Orphanet:79215 {source="MONDO:equivalentTo"} is_a: MONDO:0015327 {source="Orphanet:79215"} ! developmental anomaly of metabolic origin is_a: MONDO:0017731 {source="Orphanet:79215"} ! glycoproteinosis is_a: MONDO:0019214 ! inborn carbohydrate metabolic disorder property_value: exactMatch Orphanet:79215 [Term] id: MONDO:0019253 name: metabolic disease involving other neurotransmitter deficiency subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79219"} xref: Orphanet:79219 {source="MONDO:equivalentTo"} xref: UMLS:CN205839 {source="MONDO:equivalentTo"} is_a: MONDO:0019250 {source="Orphanet:79219"} ! inborn disorder of biogenic amine metabolism and transport property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205839 property_value: exactMatch Orphanet:79219 [Term] id: MONDO:0019254 name: inborn disorder of purine or pyrimidine metabolism subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79224"} synonym: "disorder of purine or pyrimidine metabolism" RELATED [Orphanet:79224] synonym: "inborn errors of purine-pyrimidine metabolism" EXACT [DOID:653] synonym: "inborn purine-pyrimidine metabolic disorder" EXACT [MONDO:0003914] synonym: "purine-pyrimidine metabolic disorder" RELATED [DOID:653] xref: DOID:653 {source="MONDO:equivalentTo"} xref: ICD9:277.2 {source="DOID:653"} xref: MedDRA:10037546 {source="Orphanet:79224/e", source="Orphanet:79224"} xref: MESH:D011686 {source="Orphanet:79224/e", source="MONDO:equivalentTo", source="Orphanet:79224"} xref: Orphanet:79224 {source="MONDO:equivalentTo"} xref: UMLS:C0034139 {source="Orphanet:79224/e", source="MONDO:equivalentTo", source="Orphanet:79224"} is_a: MONDO:0019052 {source="DOID:653", source="MESH:D011686", source="MONDO:Redundant", source="Orphanet:79224"} ! inborn errors of metabolism property_value: closeMatch http://identifiers.org/meddra/10037546 property_value: exactMatch DOID:653 property_value: exactMatch http://identifiers.org/mesh/D011686 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034139 property_value: exactMatch Orphanet:79224 [Term] id: MONDO:0019255 name: sphingolipidosis def: "An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease." [NCIT:P378, PMID:21502308] subset: disease_grouping subset: gard_rare {source="GARD:0007672"} subset: ordo_group_of_disorders {source="Orphanet:79225"} synonym: "sphingolipidoses" EXACT [DOID:1927] xref: DOID:1927 {source="MONDO:equivalentTo"} xref: MESH:D013106 {source="DOID:1927", source="Orphanet:79225/e", source="MONDO:equivalentTo", source="Orphanet:79225"} xref: NCIT:C117254 {source="DOID:1927", source="MONDO:equivalentTo"} xref: Orphanet:79225 {source="MONDO:equivalentTo"} xref: SCTID:238028008 {source="DOID:1927", source="MONDO:equivalentTo"} xref: UMLS:C0037899 {source="DOID:1927", source="NCIT:C117254", source="Orphanet:79225/e", source="MONDO:equivalentTo", source="Orphanet:79225"} is_a: MONDO:0019245 {source="DOID:1927", source="MESH:D013106", source="MONDO:Redundant", source="PMID:21502308"} ! lysosomal lipid storage disorder property_value: exactMatch DOID:1927 property_value: exactMatch http://identifiers.org/mesh/D013106 property_value: exactMatch http://identifiers.org/snomedct/238028008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037899 property_value: exactMatch NCIT:C117254 property_value: exactMatch Orphanet:79225 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7672/sphingolipidosis xsd:anyURI {source="GARD:0007672"} [Term] id: MONDO:0019256 name: sterol metabolism disorder def: "An inherited metabolic disease that is has its basis in the disruption of sterol metabolic process." [MONDO:patterns/inborn_metabolic] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79226"} synonym: "inborn error of sterol metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn sterol metabolic process disorder" EXACT [] synonym: "rare inborn error of sterol metabolic process" EXACT [MONDO:patterns/inborn_metabolic] xref: Orphanet:79226 {source="MONDO:equivalentTo"} xref: UMLS:CN227607 {source="MONDO:equivalentTo"} is_a: MONDO:0002525 {source="MONDO:Redundant", source="Orphanet:79226"} ! inherited lipid metabolism disorder is_a: MONDO:0045012 ! steroid metabolism disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227607 property_value: exactMatch Orphanet:79226 [Term] id: MONDO:0019257 name: hemochromatosis type 2 def: "Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin." [Orphanet:79230] subset: ordo_disease {source="Orphanet:79230"} synonym: "hemochromatosis juvenile" RELATED [GARD:0010092] synonym: "HFE2" EXACT ABBREVIATION [DOID:0111034] synonym: "iron overload disease juvenile" RELATED [GARD:0010092] synonym: "JHH" EXACT ABBREVIATION [DOID:0111034] synonym: "juvenile hemochromatosis" EXACT [DOID:0111034, Orphanet:79230] xref: DOID:0111034 {source="MONDO:equivalentTo"} xref: MESH:C537247 {source="MONDO:equivalentTo", source="Orphanet:79230", source="DOID:0111034", source="Orphanet:79230/e"} xref: Orphanet:79230 {source="MONDO:equivalentTo", source="DOID:0111034"} xref: SCTID:50855007 {source="MONDO:equivalentTo"} xref: UMLS:CN205842 {source="MONDO:equivalentTo"} is_a: MONDO:0006507 {source="Orphanet:79230"} ! hereditary hemochromatosis relationship: has_characteristic MONDO:0021136 {source="MONDO:0016363"} ! rare property_value: exactMatch DOID:0111034 property_value: exactMatch http://identifiers.org/mesh/C537247 property_value: exactMatch http://identifiers.org/snomedct/50855007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205842 property_value: exactMatch Orphanet:79230 [Term] id: MONDO:0019258 name: mild phenylketonuria def: "Mild phenylketonuria is a rare form of phenylketouria (PKU), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity." [Orphanet:79253] subset: gard_rare {source="GARD:0010324"} subset: ordo_clinical_subtype {source="Orphanet:79253"} synonym: "mild PKU" EXACT [Orphanet:79253] synonym: "mPKU" EXACT [Orphanet:79253] synonym: "variant phenylketonuria" EXACT [Orphanet:79253] synonym: "variant PKU" EXACT [Orphanet:79253] xref: Orphanet:79253 {source="MONDO:equivalentTo"} is_a: MONDO:0009861 {source="Orphanet:79253"} ! phenylketonuria property_value: exactMatch Orphanet:79253 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10324/mild-phenylketonuria xsd:anyURI {source="GARD:0010324"} [Term] id: MONDO:0019259 name: classic phenylketonuria def: "Classical phenylketonuria is a severe form of phenylketonuria (PKU) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications." [https://www.nichd.nih.gov/publications/pubs/pku/sub3, Orphanet:79254] subset: ordo_clinical_subtype {source="Orphanet:79254"} synonym: "classic PKU" EXACT [Orphanet:79254] xref: MedDRA:10034875 {source="Orphanet:79254/e", source="Orphanet:79254"} xref: Orphanet:79254 {source="MONDO:equivalentTo"} xref: UMLS:C0751434 {source="Orphanet:79254/e", source="MONDO:equivalentTo", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79254"} is_a: MONDO:0009861 {source="Orphanet:79254"} ! phenylketonuria property_value: closeMatch http://identifiers.org/meddra/10034875 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751434 property_value: exactMatch Orphanet:79254 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1738 xsd:anyURI [Term] id: MONDO:0019260 name: adult neuronal ceroid lipofuscinosis def: "A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." [Orphanet:79262] subset: gard_rare {source="GARD:0010973"} subset: ordo_disease {source="Orphanet:79262"} synonym: "adult NCL" EXACT [Orphanet:79262] synonym: "adult neuronal ceroid lipofuscinosis" EXACT [] synonym: "ANCL" EXACT ABBREVIATION [Orphanet:79262] synonym: "CLN4 disease, adult autosomal dominant" RELATED [GARD:0010973] synonym: "Kuf's disease" RELATED [GARD:0010973] synonym: "Kufs disease" EXACT [Orphanet:79262] synonym: "neuronal ceroid lipofuscinosis 4" RELATED [GARD:0010973] synonym: "neuronal ceroid lipofuscinosis of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: Orphanet:79262 {source="MONDO:equivalentTo"} xref: SCTID:62009002 {source="MONDO:equivalentTo"} xref: UMLS:C0022797 {source="MONDO:equivalentTo", source="Orphanet:79262", source="Orphanet:79262/e"} xref: UMLS:CN205864 {source="MONDO:equivalentTo"} is_a: MONDO:0016295 {source="MONDO:Redundant", source="Orphanet:79262"} ! neuronal ceroid lipofuscinosis is_a: MONDO:0020143 {source="Orphanet:79262"} ! cerebral lipidosis with dementia property_value: exactMatch http://identifiers.org/snomedct/62009002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022797 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205864 property_value: exactMatch Orphanet:79262 property_value: excluded_subClassOf MONDO:0020074 {source="Orphanet:79262"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10973/adult-neuronal-ceroid-lipofuscinosis xsd:anyURI {source="GARD:0010973"} [Term] id: MONDO:0019261 name: infantile neuronal ceroid lipofuscinosis def: "A form of neuronal ceroid lipofuscinosis (NCL) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." [Orphanet:79263] subset: ordo_disease {source="Orphanet:79263"} synonym: "Hagberg-Santavuori disease" EXACT [Orphanet:79263] synonym: "INCL" EXACT ABBREVIATION [Orphanet:79263] synonym: "infantile NCL" EXACT [Orphanet:79263] synonym: "Santavuori disease" EXACT [Orphanet:79263] synonym: "Santavuori-Haltia disease" EXACT [Orphanet:79263] xref: Orphanet:79263 {source="MONDO:equivalentTo"} xref: SCTID:58258004 {source="MONDO:equivalentTo"} is_a: MONDO:0016295 {source="Orphanet:79263"} ! neuronal ceroid lipofuscinosis is_a: MONDO:0020143 {source="Orphanet:79263"} ! cerebral lipidosis with dementia property_value: exactMatch http://identifiers.org/snomedct/58258004 property_value: exactMatch Orphanet:79263 property_value: excluded_subClassOf MONDO:0020074 {source="Orphanet:79263"} [Term] id: MONDO:0019262 name: juvenile neuronal ceroid lipofuscinosis def: "A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." [Orphanet:79264] comment: Editor note: DO class was merged into CLN3 disease but we treat as separate since this class groups different CLNs subset: ordo_disease {source="Orphanet:79264"} synonym: "batten disease" EXACT [MONDO:0000439, Orphanet:79264] synonym: "JNCL" EXACT ABBREVIATION [Orphanet:79264] synonym: "juvenile NCL" EXACT [Orphanet:79264] synonym: "juvenile neuronal ceroid lipofuscinosis" EXACT [DOID:0050756] synonym: "Spielmeyer-Vogt disease" EXACT [Orphanet:79264] xref: DOID:0050756 {source="MONDO:equivalentObsolete"} xref: MedDRA:10052073 {source="Orphanet:79264/e", source="Orphanet:79264"} xref: Orphanet:79264 {source="MONDO:equivalentTo"} xref: SCTID:61663001 {source="MONDO:equivalentTo"} is_a: MONDO:0016295 {source="DOID:0050756", source="Orphanet:79264"} ! neuronal ceroid lipofuscinosis is_a: MONDO:0020143 {source="Orphanet:79264"} ! cerebral lipidosis with dementia property_value: closeMatch http://identifiers.org/meddra/10052073 property_value: exactMatch http://identifiers.org/snomedct/61663001 property_value: exactMatch Orphanet:79264 property_value: excluded_subClassOf MONDO:0020074 {source="Orphanet:79264"} [Term] id: MONDO:0019263 name: autosomal erythropoietic protoporphyria def: "Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity." [Orphanet:79278] subset: ordo_disease {source="Orphanet:79278"} synonym: "EPP" EXACT ABBREVIATION [Orphanet:79278] xref: MedDRA:10015289 {source="Orphanet:79278/e", source="Orphanet:79278"} xref: Orphanet:79278 {source="MONDO:equivalentTo"} is_a: MONDO:0001676 {source="MONDO:cjm"} ! erythropoietic protoporphyria property_value: closeMatch http://identifiers.org/meddra/10015289 property_value: exactMatch Orphanet:79278 [Term] id: MONDO:0019264 name: alpha-N-acetylgalactosaminidase deficiency type 3 def: "Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age." [Orphanet:79281] subset: ordo_clinical_subtype {source="Orphanet:79281"} synonym: "NAGA deficiency type 3" EXACT [Orphanet:79281] synonym: "Schindler disease type 3" EXACT [Orphanet:79281] xref: DOID:0112320 {source="MONDO:equivalentTo"} xref: Orphanet:79281 {source="MONDO:equivalentTo"} xref: UMLS:C1836545 {source="Orphanet:79281", source="MONDO:equivalentTo"} is_a: MONDO:0017779 {source="Orphanet:79281"} ! alpha-N-acetylgalactosaminidase deficiency property_value: exactMatch DOID:0112320 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836545 property_value: exactMatch Orphanet:79281 [Term] id: MONDO:0019265 name: diazoxide-resistant focal hyperinsulinism def: "Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion." [Orphanet:79298] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79298"} synonym: "hyperinsulinemic hypoglycemia, diazoxide-resistant focal form" EXACT [Orphanet:79298] xref: Orphanet:79298 {source="MONDO:equivalentTo"} is_a: MONDO:0017186 {source="Orphanet:79298"} ! diazoxide-resistant hyperinsulinism property_value: exactMatch Orphanet:79298 [Term] id: MONDO:0019267 name: vitamin B12-unresponsive methylmalonic acidemia type mut- def: "Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." [Orphanet:79312] subset: ordo_clinical_subtype {source="Orphanet:79312"} synonym: "partial deficiency of methylmalonyl-CoA mutase" EXACT [Orphanet:79312] synonym: "vitamin B12-unresponsive methylmalonic aciduria type mut-" EXACT [Orphanet:79312] xref: Orphanet:79312 {source="MONDO:equivalentTo"} xref: SCTID:237946002 {source="MONDO:equivalentTo"} xref: UMLS:CN205894 {source="MONDO:equivalentTo"} is_a: MONDO:0009612 {source="Orphanet:79312"} ! methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency property_value: exactMatch http://identifiers.org/snomedct/237946002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205894 property_value: exactMatch Orphanet:79312 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0019268 name: epidermal disease def: "A skin disease that involves the epidermis." [MONDO:patterns/location] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79353"} synonym: "epidermal disease" EXACT [Orphanet:79353] synonym: "rare epidermal disease" EXACT [Orphanet:79353] xref: Orphanet:79353 {source="MONDO:equivalentTo"} xref: UMLS:CN205920 {source="MONDO:equivalentTo"} is_a: EFO:0000701 {source="Orphanet:79353"} ! skin disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0019519"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205920 property_value: exactMatch Orphanet:79353 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI [Term] id: MONDO:0019269 name: ichthyosis def: "Disorders of cornification that are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, affect most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Acquired forms of ichthyosis can be observed with certain autoimmune, inflammatory, metabolic, endocrine, or infectious diseases or with malignancies." [PMID:22739337] comment: Epidermal keratinocytes undergo a unique form of terminal differentiation and programmed cell death known as cornification. Cornification leads to the formation of the outermost skin barrier, i.e. the cornified layer, as well as to the formation of hair and nails. {xref="PMID:23792051"} subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79354"} synonym: "disorder of cornification" EXACT [PMID:20643494] synonym: "DOC" EXACT ABBREVIATION [PMID:20643494] synonym: "fish scale disease" EXACT [https://orcid.org/0000-0002-0736-9199] synonym: "fish skin disease" EXACT [https://orcid.org/0000-0002-0736-9199] synonym: "ichthyoses" EXACT [DOID:1697] synonym: "ichthyosis" EXACT [MONDO:ambiguous] synonym: "ichthyosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "non-syndromic ichthyosis" RELATED [DOID:1697] xref: DOID:1697 {source="MONDO:equivalentTo"} xref: HP:0008064 {source="MONDO:otherHierarchy"} xref: MedDRA:10021198 {source="Orphanet:79354/e", source="Orphanet:79354"} xref: MESH:D007057 {source="Orphanet:79354/e", source="MONDO:equivalentTo", source="DOID:1697", source="Orphanet:79354"} xref: NCIT:C84776 {source="MONDO:equivalentTo"} xref: Orphanet:79354 {source="MONDO:equivalentTo", source="DOID:1697"} xref: UMLS:C0020757 {source="NCIT:C84776", source="Orphanet:79354/e", source="MONDO:equivalentTo", source="Orphanet:79354"} is_a: MONDO:0019268 {source="Orphanet:79354"} ! epidermal disease property_value: closeMatch http://identifiers.org/meddra/10021198 property_value: exactMatch DOID:1697 property_value: exactMatch http://identifiers.org/mesh/D007057 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020757 property_value: exactMatch NCIT:C84776 property_value: exactMatch Orphanet:79354 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2114 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/pull/2110 xsd:anyURI property_value: IAO:0000589 "ichthyosis (disease)" xsd:string [Term] id: MONDO:0019270 name: erythrokeratoderma def: "An umbrella term for a group of rare genetic skin disorders characterized by well-demarcated plaques of reddened, dry and thickened skin. Typically, these lesions are distributed symmetrically on the body and tend to slowly expand and progress over time." [https://orcid.org/0000-0001-5208-3432, https://rarediseases.org/rare-diseases/https-rarediseases-org-rare-diseases-erythrokeratoderma/] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79355"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10015280 {source="Orphanet:79355/e", source="Orphanet:79355"} xref: Orphanet:79355 {source="MONDO:equivalentTo"} xref: SCTID:254215005 {source="MONDO:equivalentTo"} is_a: MONDO:0019268 {source="Orphanet:79355"} ! epidermal disease property_value: closeMatch http://identifiers.org/meddra/10015280 property_value: exactMatch http://identifiers.org/snomedct/254215005 property_value: exactMatch Orphanet:79355 [Term] id: MONDO:0019271 name: acrokeratoderma comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:79356"} xref: Orphanet:79356 {source="MONDO:equivalentTo"} is_a: MONDO:0019268 {source="Orphanet:79356"} ! epidermal disease property_value: exactMatch Orphanet:79356 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0019272 name: hereditary palmoplantar keratoderma def: "An instance of palmoplantar keratosis that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79357"} synonym: "hereditary keratosis palmoplantaris" EXACT [Orphanet:79357] synonym: "hereditary palmoplantar hyperkeratosis" EXACT [Orphanet:79357] synonym: "hereditary palmoplantar keratosis" EXACT [MONDO:patterns/hereditary] synonym: "hereditary PPK" EXACT [Orphanet:79357] xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:79357 {source="MONDO:equivalentTo"} xref: SCTID:239066003 {source="MONDO:equivalentTo"} is_a: EFO:1000745 {source="MONDO:Redundant", source="MONDO:cjm"} ! palmoplantar keratosis is_a: MONDO:0019268 {source="Orphanet:79357"} ! epidermal disease is_a: MONDO:0100118 ! hereditary skin disorder intersection_of: EFO:1000745 ! palmoplantar keratosis intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/snomedct/239066003 property_value: exactMatch Orphanet:79357 [Term] id: MONDO:0019275 name: obsolete other genetic epidermal disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79360"} xref: Orphanet:79360 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN205922 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205922 property_value: exactMatch Orphanet:79360 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true [Term] id: MONDO:0019276 name: inherited epidermolysis bullosa def: "Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." [Orphanet:79361] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79361"} synonym: "epidermolysis bullosa hereditaria" EXACT [Orphanet:79361] synonym: "hereditary epidermolysis bullosa" EXACT [MONDO:patterns/hereditary, Orphanet:79361] xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:79361 {source="MONDO:equivalentTo"} xref: SCTID:402781004 {source="MONDO:equivalentTo"} is_a: EFO:1000690 {source="MONDO:Redundant"} ! epidermolysis bullosa is_a: MONDO:0019268 {source="Orphanet:79361"} ! epidermal disease is_a: MONDO:0100118 ! hereditary skin disorder intersection_of: EFO:1000690 ! epidermolysis bullosa intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/snomedct/402781004 property_value: exactMatch Orphanet:79361 [Term] id: MONDO:0019277 name: epidermal appendage anomaly comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:79362"} xref: Orphanet:79362 {source="MONDO:equivalentTo"} is_a: EFO:0000701 {source="Orphanet:79362"} ! skin disease is_a: MONDO:0024481 ! skin appendage disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0019519"} ! rare property_value: exactMatch Orphanet:79362 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0019278 name: hair anomaly subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79363"} xref: Orphanet:79363 {source="MONDO:equivalentTo"} is_a: MONDO:0002917 ! disorder of pilosebaceous unit is_a: MONDO:0019277 {source="Orphanet:79363"} ! epidermal appendage anomaly property_value: exactMatch Orphanet:79363 [Term] id: MONDO:0019280 name: hypertrichosis def: "Excessive hair growth anywhere on the body." [NCIT:P378] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79365"} synonym: "hypertrichosis" EXACT [MONDO:ambiguous] synonym: "hypertrichosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:420 {source="MONDO:equivalentTo"} xref: HP:0000998 {source="MONDO:otherHierarchy"} xref: MedDRA:10020864 {source="Orphanet:79365/e", source="Orphanet:79365"} xref: MESH:D006983 {source="Orphanet:79365/e", source="MONDO:equivalentTo", source="DOID:420", source="Orphanet:79365"} xref: Orphanet:79365 {source="MONDO:equivalentTo", source="DOID:420"} xref: SCTID:29966009 {source="MONDO:equivalentTo", source="DOID:420"} xref: UMLS:C0020555 {source="Orphanet:79365/e", source="MONDO:equivalentTo", source="DOID:420", source="Orphanet:79365"} is_a: MONDO:0002917 {source="DOID:420", source="MESH:D006983", source="MONDO:Redundant", source="MONDO:indirect"} ! disorder of pilosebaceous unit property_value: closeMatch http://identifiers.org/meddra/10020864 property_value: exactMatch DOID:420 property_value: exactMatch http://identifiers.org/mesh/D006983 property_value: exactMatch http://identifiers.org/snomedct/29966009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020555 property_value: exactMatch Orphanet:79365 property_value: IAO:0000589 "hypertrichosis (disease)" xsd:string [Term] id: MONDO:0019281 name: isolated genetic hair shaft abnormality comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:79366"} synonym: "isolated hair shaft abnormality" RELATED [Orphanet:79366] xref: Orphanet:79366 {source="MONDO:equivalentTo"} is_a: MONDO:0019278 {source="https://orcid.org/0000-0001-5208-3432"} ! hair anomaly property_value: exactMatch Orphanet:79366 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0019282 name: obsolete syndromic hair shaft abnormality subset: ordo_group_of_disorders {source="Orphanet:79367"} xref: Orphanet:79367 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227611 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227611 property_value: exactMatch Orphanet:79367 property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier", source="MONDO:excludeGroupingMorpho"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI is_obsolete: true consider: MONDO:0019278 [Term] id: MONDO:0019283 name: nail anomaly def: "A epidermal appendage anomaly that involves the nail." [MONDO:patterns/location] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79368"} synonym: "epidermal appendage anomaly of nail" EXACT [MONDO:design_pattern] synonym: "nail epidermal appendage anomaly" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: MedDRA:10028684 {source="Orphanet:79368/e", source="Orphanet:79368"} xref: Orphanet:79368 {source="MONDO:equivalentTo"} is_a: MONDO:0002884 ! nail disorder is_a: MONDO:0019277 {source="MONDO:Redundant", source="Orphanet:79368"} ! epidermal appendage anomaly property_value: closeMatch http://identifiers.org/meddra/10028684 property_value: exactMatch Orphanet:79368 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0019284 name: inherited isolated nail anomaly def: "A nail anomaly that is not part of a larger syndrome." [MONDO:patterns/isolated] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79369"} synonym: "isolated nail anomaly" RELATED [Orphanet:79369] synonym: "nail disorder, nonsyndromic congenital" EXACT [MONDO:0000073] synonym: "nonsyndromic nail anomaly" EXACT [MONDO:patterns/isolated] xref: DOID:0080683 {source="MONDO:equivalentTo"} xref: OMIMPS:161050 {source="MONDO:equivalentTo"} xref: Orphanet:79369 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0002884 ! nail disorder intersection_of: MONDO:0002884 ! nail disorder intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation intersection_of: has_characteristic MONDO:0021152 ! inherited relationship: has_characteristic MONDO:0021128 ! has an isolated presentation property_value: exactMatch DOID:0080683 property_value: exactMatch https://omim.org/phenotypicSeries/PS161050 property_value: exactMatch Orphanet:79369 [Term] id: MONDO:0019285 name: obsolete syndromic nail anomaly def: "OBSOLETE. A nail anomaly that is part of a larger syndrome." [MONDO:patterns/syndromic] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79370"} synonym: "syndrome associated with nail anomaly" EXACT [MONDO:patterns/syndromic] synonym: "syndromic nail anomaly" EXACT [MONDO:patterns/syndromic] xref: Orphanet:79370 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227613 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227613 property_value: exactMatch Orphanet:79370 property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingMorpho", source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI is_obsolete: true consider: MONDO:0019283 [Term] id: MONDO:0019286 name: sebaceous gland anomaly def: "A epidermal appendage anomaly that involves the sebaceous gland." [MONDO:patterns/location] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:79372"} synonym: "epidermal appendage anomaly of sebaceous gland" EXACT [MONDO:design_pattern] synonym: "sebaceous gland epidermal appendage anomaly" EXACT [MONDO:patterns/location] xref: Orphanet:79372 {source="MONDO:equivalentTo"} is_a: EFO:1000763 ! sebaceous gland disease is_a: MONDO:0019277 {source="MONDO:Redundant", source="Orphanet:79372"} ! epidermal appendage anomaly property_value: exactMatch Orphanet:79372 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0019287 name: ectodermal dysplasia syndrome def: "The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." [Orphanet:79373] subset: disease_grouping subset: gard_rare subset: ordo_group_of_disorders {source="Orphanet:79373"} synonym: "congenital ectodermal defect" EXACT [DOID:2121] synonym: "ectodermal dysplasia" EXACT [Orphanet:79373] synonym: "ectodermal dysplasia (select examples)" EXACT [OMIMPS:305100] xref: DOID:2121 {source="MONDO:equivalentTo"} xref: ICD9:757.31 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10010452 {source="Orphanet:79373", source="Orphanet:79373/e"} xref: MESH:D004476 {source="MONDO:equivalentTo", source="Orphanet:79373", source="Orphanet:79373/e"} xref: NCIT:C84683 {source="MONDO:equivalentTo"} xref: OMIMPS:305100 {source="DOID:2121", source="MONDO:equivalentTo"} xref: Orphanet:79373 {source="MONDO:equivalentTo"} xref: SCTID:8654005 {source="MONDO:equivalentTo"} xref: UMLS:C0013575 {source="GARD:0006317", source="MONDO:equivalentTo", source="Orphanet:79373", source="NCIT:C84683", source="Orphanet:79373/e"} is_a: MONDO:0002254 {source="DOID:2121", source="NCIT:C84683"} ! syndromic disease is_a: MONDO:0021026 {source="Orphanet:79373"} ! hereditary epidermal appendage anomaly property_value: closeMatch http://identifiers.org/meddra/10010452 property_value: exactMatch DOID:2121 property_value: exactMatch http://identifiers.org/mesh/D004476 property_value: exactMatch http://identifiers.org/snomedct/8654005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013575 property_value: exactMatch https://omim.org/phenotypicSeries/PS305100 property_value: exactMatch NCIT:C84683 property_value: exactMatch Orphanet:79373 [Term] id: MONDO:0019288 name: skin pigmentation disorder def: "A pigmentation disease that involves the zone of skin." [MONDO:design_pattern] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79374"} synonym: "pigmentation anomaly of the skin" EXACT [] synonym: "pigmentation disease" RELATED [DOID:10123] synonym: "pigmentation disease of zone of skin" EXACT [MONDO:design_pattern] synonym: "zone of skin pigmentation disease" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:10123 {source="MONDO:equivalentTo", source="EFO:1000755"} xref: EFO:1000755 {source="MONDO:equivalentTo"} xref: ICD9:709.09 {source="DOID:10123"} xref: MESH:D010859 {source="MONDO:equivalentTo"} xref: NCIT:C34557 {source="MONDO:equivalentTo"} xref: Orphanet:79374 {source="MONDO:equivalentTo"} is_a: EFO:0000701 {source="DOID:10123", source="EFO:1000755", source="MESH:D010859", source="MONDO:Redundant"} ! skin disease property_value: exactMatch DOID:10123 property_value: exactMatch http://identifiers.org/mesh/D010859 property_value: exactMatch NCIT:C34557 property_value: exactMatch Orphanet:79374 [Term] id: MONDO:0019289 name: hyperpigmentation of the skin subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79375"} xref: EFO:0009047 {source="MONDO:equivalentTo"} xref: HP:0000953 {source="MONDO:otherHierarchy"} xref: ICD9:709.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:183466 {source="MONDO:mondoIsBroaderThanSource"} xref: Orphanet:79375 {source="MONDO:equivalentTo"} xref: SCTID:49765009 {source="MONDO:equivalentTo"} is_a: MONDO:0019288 {source="Orphanet:79375"} ! skin pigmentation disorder property_value: exactMatch http://identifiers.org/snomedct/49765009 property_value: exactMatch Orphanet:79375 property_value: narrowMatch Orphanet:183466 [Term] id: MONDO:0019290 name: hypopigmentation of the skin def: "A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections." [MESH:D017496] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79376"} synonym: "hypomelanoses" RELATED [MESH:D017496] synonym: "hypomelanosis" RELATED [MESH:D017496] synonym: "hypopigmentation of the skin" EXACT [MONDO:ambiguous] synonym: "hypopigmentation of the skin (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0001010 {source="MONDO:otherHierarchy"} xref: MedDRA:10040868 {source="Orphanet:79376/e", source="Orphanet:79376"} xref: MESH:D017496 {source="MONDO:equivalentTo"} xref: Orphanet:183469 {source="MONDO:mondoIsBroaderThanSource"} xref: Orphanet:79376 {source="MONDO:equivalentTo"} is_a: MONDO:0019288 {source="MESH:D017496", source="Orphanet:79376"} ! skin pigmentation disorder property_value: closeMatch http://identifiers.org/meddra/10040868 property_value: exactMatch http://identifiers.org/mesh/D017496 property_value: exactMatch Orphanet:79376 property_value: IAO:0000589 "hypopigmentation of the skin (disease)" xsd:string property_value: narrowMatch Orphanet:183469 [Term] id: MONDO:0019292 name: dermis elastic tissue disorder comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:79378"} xref: Orphanet:228215 {source="MONDO:mondoIsBroaderThanSource"} xref: Orphanet:79378 {source="MONDO:equivalentTo"} xref: UMLS:CN227616 {source="MONDO:equivalentTo"} is_a: MONDO:0021154 ! dermis disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227616 property_value: exactMatch Orphanet:79378 property_value: excluded_subClassOf MONDO:0019291 {source="MONDO:Redundant", source="Orphanet:79378"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string property_value: narrowMatch Orphanet:228215 [Term] id: MONDO:0019293 name: skin vascular disease def: "A disease that involves the superficial vasculature." [MONDO:patterns/location] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79379"} synonym: "disorder of blood vessels affecting skin" RELATED [] synonym: "skin vascular disorder" EXACT [NCIT:C35254] synonym: "superficial vasculature disease" EXACT [MONDO:patterns/location] synonym: "vascular disease of the skin" EXACT [] synonym: "vascular disorder of skin" RELATED [] synonym: "vascular disorders of skin" RELATED [] synonym: "vascular skin disease" EXACT [MONDO:0004814] synonym: "vasculature skin disease" EXACT [MONDO:patterns/location] xref: DOID:9540 {source="MONDO:equivalentTo"} xref: ICD9:709.1 {source="DOID:9540"} xref: MedDRA:10062171 {source="Orphanet:79379/e", source="Orphanet:79379"} xref: MESH:D017445 {source="Orphanet:79379/e", source="MONDO:equivalentTo", source="DOID:9540", source="Orphanet:79379"} xref: NCIT:C35254 {source="MONDO:equivalentTo", source="DOID:9540"} xref: Orphanet:79379 {source="MONDO:equivalentTo"} xref: SCTID:11263005 {source="MONDO:equivalentTo", source="DOID:9540"} xref: UMLS:C0162819 {source="Orphanet:79379/e", source="MONDO:equivalentTo", source="DOID:9540", source="Orphanet:79379"} is_a: EFO:0000701 {source="DOID:9540", source="MESH:D017445", source="MONDO:Redundant", source="NCIT:C35254"} ! skin disease is_a: EFO:0004264 {source="MONDO:Redundant", source="NCIT:C35254"} ! vascular disease property_value: closeMatch http://identifiers.org/meddra/10062171 property_value: exactMatch DOID:9540 property_value: exactMatch http://identifiers.org/mesh/D017445 property_value: exactMatch http://identifiers.org/snomedct/11263005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162819 property_value: exactMatch NCIT:C35254 property_value: exactMatch Orphanet:79379 property_value: excluded_subClassOf MONDO:0019291 {source="Orphanet:79379"} [Term] id: MONDO:0019294 name: mixed dermis disorder comment: Editor note: check if genetic subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79380"} xref: Orphanet:183481 {source="MONDO:mondoIsBroaderThanSource"} xref: Orphanet:79380 {source="MONDO:equivalentTo"} xref: UMLS:CN227617 {source="MONDO:equivalentTo"} is_a: MONDO:0021154 {source="Orphanet:79380"} ! dermis disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0019291"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227617 property_value: exactMatch Orphanet:79380 [Term] id: MONDO:0019296 name: subcutaneous tissue disorder def: "A disease involving the superficial fascia." [MONDO:patterns/location_top] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79382"} subset: rare_grouping synonym: "disease of superficial fascia" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of superficial fascia" EXACT [] synonym: "disorder of superficial fascia" EXACT [MONDO:patterns/location_top] synonym: "superficial fascia disease" EXACT [MONDO:patterns/location] synonym: "superficial fascia disease or disorder" EXACT [MONDO:patterns/location] xref: Orphanet:79382 {source="MONDO:equivalentTo"} xref: UMLS:C1290008 {source="MONDO:equivalentTo", source="Orphanet:79382", source="Orphanet:79382/e"} is_a: EFO:0010285 ! integumentary system disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1290008 property_value: exactMatch Orphanet:79382 property_value: excluded_subClassOf MONDO:0019043 [Term] id: MONDO:0019297 name: lymphedema def: "Excess fluid collection in tissues, causing swelling. It is the result of obstruction of lymphatic vessels or lymph nodes." [NCIT:C3207] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79383"} synonym: "lymphatic edema" EXACT [DOID:4977] synonym: "lymphatic edema (morphologic abnormality)" EXACT [DOID:4977] synonym: "lymphatic oedema" EXACT OMO:0003005 [] synonym: "lymphatic oedema (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "lymphoedema" EXACT [DOID:4977] xref: DOID:4977 {source="MONDO:equivalentTo"} xref: ICD9:457.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10025282 {source="Orphanet:79383", source="Orphanet:79383/e"} xref: MESH:D008209 {source="MONDO:equivalentTo", source="DOID:4977", source="Orphanet:79383", source="Orphanet:79383/e"} xref: NCIT:C3207 {source="MONDO:equivalentTo", source="DOID:4977", source="MONDO:exact-label-match"} xref: Orphanet:79383 {source="MONDO:equivalentObsolete"} xref: SCTID:234097001 {source="MONDO:equivalentTo", source="DOID:4977"} xref: UMLS:C0024236 {source="MONDO:equivalentTo", source="DOID:4977", source="Orphanet:79383", source="NCIT:C3207", source="Orphanet:79383/e"} is_a: EFO:0007352 {source="DOID:4977", source="MESH:D008209"} ! lymphatic system disease property_value: closeMatch http://identifiers.org/meddra/10025282 property_value: exactMatch DOID:4977 property_value: exactMatch http://identifiers.org/mesh/D008209 property_value: exactMatch http://identifiers.org/snomedct/234097001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024236 property_value: exactMatch NCIT:C3207 property_value: excluded_subClassOf MONDO:0019043 {source="Orphanet:79383"} [Term] id: MONDO:0019303 name: premature aging syndrome def: "Changes in the organism associated with senescence, occurring at an accelerated rate." [MESH:D019588] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79389"} synonym: "premature ageing" RELATED OMO:0003005 [] synonym: "premature aging" RELATED [Orphanet:79389] xref: MedDRA:10063493 {source="Orphanet:79389/e", source="Orphanet:79389"} xref: MESH:D019588 {source="Orphanet:79389/e", source="MONDO:equivalentTo", source="Orphanet:79389"} xref: Orphanet:79389 {source="MONDO:equivalentTo"} is_a: EFO:0000408 ! disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0019043"} ! rare property_value: closeMatch http://identifiers.org/meddra/10063493 property_value: exactMatch http://identifiers.org/mesh/D019588 property_value: exactMatch Orphanet:79389 property_value: excluded_subClassOf MONDO:0005093 {source="Orphanet:79389"} [Term] id: MONDO:0019306 name: congenital non-bullous ichthyosiform erythroderma def: "A variant of autosomal recessive congenital ichthyosis (ARCI), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body." [Orphanet:79394] subset: ordo_disease {source="Orphanet:79394"} synonym: "alligator skin" EXACT [DOID:1699] synonym: "CIE" EXACT ABBREVIATION [Orphanet:79394] synonym: "congenital ichthyosiform erythroderma" EXACT [MONDO:ambiguous] synonym: "congenital ichthyosiform erythroderma (disease)" EXACT [MONDO:0002080] synonym: "congenital non bullous ichthyosiform erythroderma" EXACT [DOID:1699] synonym: "erythrodermic ichthyosis" EXACT [Orphanet:79394] synonym: "ichthyosiform erythroderma" EXACT [DOID:1699] synonym: "lamellar desquamation of the newborn" RELATED [DOID:1699] synonym: "lamellar ichthyosis" RELATED [DOID:1699] synonym: "non-bullous congenital ichthyosiform erythroderma" EXACT [Orphanet:79394] synonym: "nonbullous congenital ichthyosiform erythroderma" EXACT [DOID:1699] xref: DOID:1699 {source="MONDO:equivalentObsolete"} xref: HP:0007431 {source="MONDO:otherHierarchy"} xref: MESH:D017490 {source="MONDO:relatedTo", source="DOID:1699"} xref: NCIT:C84805 {source="MONDO:relatedTo", source="DOID:1699"} xref: Orphanet:79394 {source="MONDO:equivalentTo"} xref: SCTID:205550003 {source="MONDO:equivalentTo", source="DOID:1699"} is_a: MONDO:0017265 {source="Orphanet:79394"} ! autosomal recessive congenital ichthyosis property_value: exactMatch http://identifiers.org/snomedct/205550003 property_value: exactMatch Orphanet:79394 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0019307 name: generalized junctional epidermolysis bullosa non-Herlitz type def: "Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement." [Orphanet:79402] subset: ordo_clinical_subtype {source="Orphanet:79402"} synonym: "GABEB" EXACT ABBREVIATION [DOID:0060738, Orphanet:79402] synonym: "generalised atrophic benign epidermolysis bullosa" EXACT OMO:0003005 [] synonym: "generalised junctional epidermolysis bullosa, non-Herlitz type" EXACT OMO:0003005 [] synonym: "generalized atrophic benign epidermolysis bullosa" EXACT [DOID:0060738, Orphanet:79402] synonym: "generalized junctional epidermolysis bullosa, non-Herlitz type" EXACT [DOID:0060738] synonym: "JEB, generalised intermediate" EXACT OMO:0003005 [] synonym: "JEB, generalized intermediate" EXACT [Orphanet:79402] synonym: "JEB-nH gen" EXACT [DOID:0060738, Orphanet:79402] synonym: "junctional epidermolysis bullosa generalisata mitis" EXACT [DOID:0060738, Orphanet:79402] synonym: "junctional epidermolysis bullosa non-Herlitz type" RELATED [DOID:0060738] synonym: "junctional epidermolysis bullosa, Disentis type" EXACT [DOID:0060738, Orphanet:79402] synonym: "junctional epidermolysis bullosa, generalised intermediate" RELATED OMO:0003005 [] synonym: "junctional epidermolysis bullosa, generalized intermediate" RELATED [Orphanet:79402] xref: DOID:0060738 {source="MONDO:equivalentTo"} xref: Orphanet:79402 {source="MONDO:equivalentTo", source="DOID:0060738"} xref: SCTID:724225008 {source="MONDO:equivalentTo"} is_a: MONDO:0009180 {source="Orphanet:79402"} ! junctional epidermolysis bullosa, non-Herlitz type property_value: exactMatch DOID:0060738 property_value: exactMatch http://identifiers.org/snomedct/724225008 property_value: exactMatch Orphanet:79402 [Term] id: MONDO:0019308 name: junctional epidermolysis bullosa inversa def: "Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina." [Orphanet:79405] subset: ordo_disease {source="Orphanet:79405"} synonym: "EBJ-I" EXACT [Orphanet:79405] synonym: "inverse JEB" EXACT [Orphanet:79405] synonym: "JEB-I" EXACT [Orphanet:79405] xref: Orphanet:79405 {source="MONDO:equivalentTo"} xref: UMLS:C2673609 {source="Orphanet:79405", source="MONDO:equivalentTo"} xref: UMLS:C2673610 {source="MONDO:equivalentTo"} is_a: MONDO:0017612 {source="Orphanet:79405"} ! junctional epidermolysis bullosa property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673609 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673610 property_value: exactMatch Orphanet:79405 [Term] id: MONDO:0019309 name: late-onset junctional epidermolysis bullosa def: "Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB) occurring in childhood or young adulthood." [Orphanet:79406] subset: gard_rare {source="GARD:0012921"} subset: ordo_disease {source="Orphanet:79406"} synonym: "EB progressive" EXACT [Orphanet:79406] synonym: "JEB-lo" EXACT [Orphanet:79406] xref: Orphanet:79406 {source="MONDO:equivalentTo"} xref: SCTID:719432000 {source="MONDO:equivalentTo"} xref: UMLS:C4304724 {source="MONDO:equivalentTo"} xref: UMLS:CN205949 {source="MONDO:equivalentTo"} is_a: MONDO:0017612 {source="Orphanet:79406"} ! junctional epidermolysis bullosa property_value: exactMatch http://identifiers.org/snomedct/719432000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304724 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205949 property_value: exactMatch Orphanet:79406 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12921/late-onset-junctional-epidermolysis-bullosa xsd:anyURI {source="GARD:0012921"} [Term] id: MONDO:0019310 name: recessive dystrophic epidermolysis bullosa inversa def: "Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area." [Orphanet:79409] subset: ordo_disease {source="Orphanet:79409"} synonym: "dystrophic epidermolysis bullosa inversa" EXACT [Orphanet:79409] synonym: "inverse RDEB" EXACT [Orphanet:79409] synonym: "inverse recessive dystrophic epidermolysis bullosa" EXACT [Orphanet:79409] synonym: "RDEB-I" EXACT [Orphanet:79409] xref: Orphanet:79409 {source="MONDO:equivalentTo"} xref: UMLS:CN205951 {source="MONDO:equivalentTo"} is_a: MONDO:0009179 {source="https://orcid.org/0000-0001-5208-3432"} ! recessive dystrophic epidermolysis bullosa property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205951 property_value: exactMatch Orphanet:79409 [Term] id: MONDO:0019311 name: wooly hair nevus def: "Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi." [Orphanet:79414] subset: ordo_disease {source="Orphanet:79414"} synonym: "wooly hair nevus" EXACT [Orphanet:79414] xref: Orphanet:79414 {source="MONDO:equivalentTo"} xref: SCTID:239124001 {source="MONDO:equivalentTo"} xref: UMLS:C0343114 {source="Orphanet:79414", source="MONDO:equivalentTo", source="Orphanet:79414/e"} is_a: MONDO:0002297 ! epidermal appendage tumor is_a: MONDO:0008093 ! nevus, epidermal is_a: MONDO:0019281 {source="Orphanet:79414"} ! isolated genetic hair shaft abnormality is_a: MONDO:0021026 ! hereditary epidermal appendage anomaly property_value: exactMatch http://identifiers.org/snomedct/239124001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343114 property_value: exactMatch Orphanet:79414 [Term] id: MONDO:0019312 name: Hermansky-Pudlak syndrome def: "Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." [Orphanet:79430] subset: ordo_disease {source="Orphanet:79430"} synonym: "Hermansky Pudlak syndrome" RELATED [GARD:0006643] synonym: "HPS" EXACT ABBREVIATION [Orphanet:79430] synonym: "HPS (Hermansky Pudlak syndrome)" EXACT [DOID:3753] xref: DOID:3753 {source="MONDO:equivalentTo"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:79430/inclusion", source="Orphanet:79430", source="Orphanet:79430/ntbt"} xref: ICD10CM:E70.331 {source="DOID:3753", source="MONDO:equivalentTo"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10071775 {source="Orphanet:79430/e", source="Orphanet:79430"} xref: MESH:D022861 {source="DOID:3753", source="MONDO:equivalentTo"} xref: NCIT:C37261 {source="DOID:3753", source="MONDO:equivalentTo"} xref: OMIMPS:203300 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:79430 {source="DOID:3753", source="MONDO:equivalentTo"} xref: SCTID:9311003 {source="DOID:3753", source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C37261"} ! syndromic disease is_a: MONDO:0017305 {source="Orphanet:79430"} ! syndromic oculocutaneous albinism is_a: MONDO:0017739 {source="Orphanet:79430"} ! disorder of lysosomal-related organelles is_a: MONDO:0020118 {source="Orphanet:79430"} ! dense granule disease is_a: MONDO:0021181 {source="MESH:D022861", source="MONDO:Redundant", source="MONDO:indirect"} ! inherited blood coagulation disorder property_value: closeMatch http://identifiers.org/meddra/10071775 property_value: exactMatch DOID:3753 property_value: exactMatch http://identifiers.org/mesh/D022861 property_value: exactMatch http://identifiers.org/snomedct/9311003 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E70.331 property_value: exactMatch https://omim.org/phenotypicSeries/PS203300 property_value: exactMatch NCIT:C37261 property_value: exactMatch Orphanet:79430 [Term] id: MONDO:0019313 name: lymphatic malformation def: "Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts and lymphatic-system malformation." [PMID:22831870] subset: ordo_disease {source="Orphanet:79452"} synonym: "hereditary lymphedema" EXACT [MONDO:patterns/hereditary] synonym: "lymphedema, hereditary" EXACT [OMIMPS:153100] xref: DOID:0050580 {source="MONDO:equivalentTo"} xref: ICD10CM:Q82.0 {source="MONDO:equivalentTo", source="Orphanet:79452", source="Orphanet:79452/attributed", source="Orphanet:79452/ntbt"} xref: ICD9:757.0 {source="DOID:0050580"} xref: OMIMPS:153100 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: SCTID:254199006 {source="MONDO:equivalentTo"} is_a: MONDO:0016229 {source="MONDO:Redundant", source="Orphanet:79452", source="Orphanet:79452/inferred"} ! hereditary vascular anomaly is_a: MONDO:0019175 {source="Orphanet:79452", source="Orphanet:79452/inferred"} ! primary lymphedema intersection_of: MONDO:0019297 ! lymphedema intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch DOID:0050580 property_value: exactMatch http://identifiers.org/snomedct/254199006 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q82.0 property_value: exactMatch https://omim.org/phenotypicSeries/PS153100 [Term] id: MONDO:0019317 name: follicular atrophoderma-basal cell carcinoma subset: ordo_clinical_subtype {source="Orphanet:79459"} xref: Orphanet:79459 {source="MONDO:equivalentObsolete"} xref: UMLS:CN205972 {source="MONDO:equivalentTo"} is_a: MONDO:0010535 {source="Orphanet:79459"} ! Bazex-Dupre-Christol syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205972 [Term] id: MONDO:0019321 name: atypical Werner syndrome def: "A heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population." [Orphanet:79474] subset: gard_rare {source="GARD:0011910"} subset: ordo_disease {source="Orphanet:79474"} synonym: "atypical progeroid syndrome" EXACT [Orphanet:79474] xref: Orphanet:79474 {source="MONDO:equivalentTo"} xref: SCTID:715633008 {source="MONDO:equivalentTo"} xref: UMLS:C4275075 {source="MONDO:equivalentTo"} xref: UMLS:CN205977 {source="MONDO:equivalentTo"} is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy is_a: MONDO:0021147 {source="Orphanet:79474", source="Orphanet:79474/inferred"} ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/snomedct/715633008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275075 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205977 property_value: exactMatch Orphanet:79474 property_value: excluded_subClassOf MONDO:0015333 {source="Orphanet:79474"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1567 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11910/atypical-werner-syndrome xsd:anyURI {source="GARD:0011910"} [Term] id: MONDO:0019325 name: phakomatosis cesioflammea subset: ordo_clinical_subtype {source="Orphanet:79483"} synonym: "phakomatosis pigmentovascularis type 2" EXACT [Orphanet:79483] xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:79483 {source="MONDO:equivalentTo"} xref: SCTID:703284009 {source="MONDO:equivalentTo"} xref: UMLS:CN205984 {source="MONDO:equivalentTo"} is_a: MONDO:0017318 {source="Orphanet:79483"} ! phakomatosis pigmentovascularis property_value: exactMatch http://identifiers.org/snomedct/703284009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205984 property_value: exactMatch Orphanet:79483 [Term] id: MONDO:0019326 name: phakomatosis cesiomarmorata subset: ordo_clinical_subtype {source="Orphanet:79484"} synonym: "phakomatosis caesiomarmorata" EXACT [] synonym: "phakomatosis cesiomarmorata" EXACT [] synonym: "phakomatosis pigmentovascularis type 5" EXACT [Orphanet:79484] xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:79484 {source="MONDO:equivalentTo"} xref: SCTID:703286006 {source="MONDO:equivalentTo"} xref: UMLS:CN205985 {source="MONDO:equivalentTo"} is_a: MONDO:0017318 {source="Orphanet:79484"} ! phakomatosis pigmentovascularis property_value: exactMatch http://identifiers.org/snomedct/703286006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205985 property_value: exactMatch Orphanet:79484 [Term] id: MONDO:0019327 name: phakomatosis spilorosea subset: ordo_clinical_subtype {source="Orphanet:79485"} synonym: "phakomatosis pigmentovascularis type 3" EXACT [Orphanet:79485] xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:79485 {source="MONDO:equivalentTo"} xref: SCTID:703285005 {source="MONDO:equivalentTo"} xref: UMLS:CN205986 {source="MONDO:equivalentTo"} is_a: MONDO:0017318 {source="Orphanet:79485"} ! phakomatosis pigmentovascularis property_value: exactMatch http://identifiers.org/snomedct/703285005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205986 property_value: exactMatch Orphanet:79485 [Term] id: MONDO:0019330 name: pili gemini def: "Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair." [Orphanet:79492] subset: ordo_disease {source="Orphanet:79492"} synonym: "pili multigemini" EXACT [Orphanet:79492] xref: ICD9:704.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537188 {source="MONDO:equivalentTo"} xref: Orphanet:79492 {source="MONDO:equivalentTo"} xref: SCTID:42829009 {source="MONDO:equivalentTo"} is_a: MONDO:0019281 {source="Orphanet:79492"} ! isolated genetic hair shaft abnormality property_value: exactMatch http://identifiers.org/mesh/C537188 property_value: exactMatch http://identifiers.org/snomedct/42829009 property_value: exactMatch Orphanet:79492 [Term] id: MONDO:0019332 name: punctate palmoplantar keratoderma type 1 def: "Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients.." [Orphanet:79501] subset: ordo_disease {source="Orphanet:79501"} synonym: "Brauer-Buschke-Fischer syndrome" RELATED [GARD:0003103] synonym: "Buschke-Fischer-Brauer syndrome" EXACT [Orphanet:79501] synonym: "keratoderma, palmoplantar punctate type 1" RELATED [GARD:0003103] synonym: "keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type" EXACT [Orphanet:79501] synonym: "PPKP1" EXACT ABBREVIATION [Orphanet:79501] synonym: "punctate palmoplantar keratoderma type I" RELATED [GARD:0003103] synonym: "type I punctate palmoplantar keratoderma" RELATED [GARD:0003103] xref: Orphanet:79501 {source="MONDO:equivalentTo"} xref: SCTID:717184007 {source="MONDO:equivalentTo"} xref: UMLS:CN205995 {source="MONDO:equivalentTo"} is_a: MONDO:0016518 {source="Orphanet:79501"} ! isolated punctate palmoplantar keratoderma property_value: exactMatch http://identifiers.org/snomedct/717184007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205995 property_value: exactMatch Orphanet:79501 [Term] id: MONDO:0019333 name: autosomal recessive hyperinsulinism due to SUR1 deficiency subset: ordo_disease {source="Orphanet:79643"} synonym: "autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency" EXACT [Orphanet:79643] xref: Orphanet:79643 {source="MONDO:equivalentTo"} xref: UMLS:CN206002 {source="MONDO:equivalentTo"} is_a: MONDO:0009734 ! hyperinsulinemic hypoglycemia, familial, 1 is_a: MONDO:0015625 {source="Orphanet:79643"} ! diazoxide-resistant diffuse hyperinsulinism property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206002 property_value: exactMatch Orphanet:79643 [Term] id: MONDO:0019334 name: autosomal recessive hyperinsulinism due to Kir6.2 deficiency subset: ordo_disease {source="Orphanet:79644"} synonym: "autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency" EXACT [Orphanet:79644] xref: Orphanet:79644 {source="MONDO:equivalentTo"} xref: UMLS:CN206003 {source="MONDO:equivalentTo"} is_a: MONDO:0011153 ! hyperinsulinemic hypoglycemia, familial, 2 is_a: MONDO:0015625 {source="Orphanet:79644"} ! diazoxide-resistant diffuse hyperinsulinism property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206003 property_value: exactMatch Orphanet:79644 [Term] id: MONDO:0019335 name: mild hyperphenylalaninemia def: "Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by mild symptoms of HPA." [Orphanet:79651] subset: ordo_clinical_subtype {source="Orphanet:79651"} synonym: "mHPA" EXACT [Orphanet:79651] synonym: "mild HPA" EXACT [Orphanet:79651] synonym: "non-PKU HPA" EXACT [Orphanet:79651] xref: Orphanet:79651 {source="MONDO:equivalentTo"} is_a: MONDO:0009861 {source="Orphanet:79651"} ! phenylketonuria property_value: exactMatch Orphanet:79651 [Term] id: MONDO:0019336 name: Gardner syndrome def: "Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors." [Orphanet:79665] subset: ordo_clinical_subtype {source="Orphanet:79665"} synonym: "Gardner syndrome" EXACT [NCIT:C6728] synonym: "Gardner's syndrome" EXACT [NCIT:C6728] synonym: "intestinal polyposis, osteomas, sebaceous cysts" RELATED [GARD:0006482] synonym: "polyposis coli and multiple hard and soft tissue tumors" RELATED [GARD:0006482] synonym: "polyposis coli and multiple hard and soft tissue tumours" RELATED OMO:0003005 [] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10017727 {source="Orphanet:79665/e", source="Orphanet:79665"} xref: MESH:D005736 {source="Orphanet:79665/e", source="MONDO:equivalentTo", source="Orphanet:79665"} xref: NCIT:C6728 {source="MONDO:equivalentTo"} xref: Orphanet:79665 {source="MONDO:equivalentTo"} xref: SCTID:60876000 {source="MONDO:equivalentTo"} xref: UMLS:C0017097 {source="Orphanet:79665/e", source="MONDO:equivalentTo", source="NCIT:C6728", source="Orphanet:79665"} is_a: EFO:0003824 ! eye neoplasm is_a: MONDO:0021055 {source="NCIT:C6728", source="Orphanet:79665"} ! classic familial adenomatous polyposis property_value: closeMatch http://identifiers.org/meddra/10017727 property_value: exactMatch http://identifiers.org/mesh/D005736 property_value: exactMatch http://identifiers.org/snomedct/60876000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017097 property_value: exactMatch NCIT:C6728 property_value: exactMatch Orphanet:79665 property_value: excluded_subClassOf MONDO:0015950 {source="Orphanet:79665"} property_value: excluded_subClassOf MONDO:0019300 {source="Orphanet:79665"} property_value: excluded_subClassOf MONDO:0020063 {source="Orphanet:79665"} property_value: excluded_subClassOf MONDO:0020176 {source="Orphanet:79665"} [Term] id: MONDO:0019338 name: sarcoidosis def: "Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs." [Orphanet:797] comment: Editor note: ORDO makes this a type of cardiomyopathy but this would render the subclass cardiac sarcoidosis equivalent; same with neurogenic sarcoidosis. TODO - check type of hypersensitivity disease subset: ordo_disease {source="Orphanet:797"} synonym: "benign lymphogranulomatosis of Schaumann" RELATED [] synonym: "Besnier-Boeck-Schaumann disease" EXACT [Orphanet:797] synonym: "besnier-Boeck-Schaumann syndrome" EXACT [] synonym: "Boeck sarcoid" EXACT [DOID:11335, Orphanet:797] synonym: "Boeck's sarcoid" EXACT [Orphanet:797] synonym: "Boeck's sarcoidosis" EXACT [] synonym: "Darier-Roussy sarcoid" EXACT [] synonym: "lupus pernio of Besnier" RELATED [] synonym: "lymphogranulomatosis" EXACT [DOID:11335] synonym: "miliary lupoid of boeck" RELATED [] synonym: "sarcoid" EXACT [NCIT:C34995] synonym: "sarcoidosis" EXACT [] xref: DOID:11335 {source="MONDO:equivalentTo"} xref: ICD9:135 {source="DOID:11335"} xref: MedDRA:10039486 {source="Orphanet:797", source="Orphanet:797/e"} xref: MESH:D012507 {source="Orphanet:797", source="DOID:11335", source="MONDO:equivalentTo", source="Orphanet:797/e"} xref: NCIT:C34995 {source="DOID:11335", source="MONDO:equivalentTo"} xref: Orphanet:797 {source="DOID:11335", source="MONDO:equivalentTo"} xref: SCTID:31541009 {source="DOID:11335", source="MONDO:equivalentTo"} xref: UMLS:C0036202 {source="Orphanet:797", source="DOID:11335", source="MONDO:equivalentTo", source="Orphanet:797/e", source="NCIT:C34995"} is_a: MONDO:0017955 {source="Orphanet:797"} ! granulomatous autoinflammatory syndrome property_value: closeMatch http://identifiers.org/meddra/10039486 property_value: exactMatch DOID:11335 property_value: exactMatch http://identifiers.org/mesh/D012507 property_value: exactMatch http://identifiers.org/snomedct/31541009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036202 property_value: exactMatch NCIT:C34995 property_value: exactMatch Orphanet:797 property_value: excluded_subClassOf MONDO:0002459 {source="DOID:11335"} property_value: excluded_subClassOf MONDO:0007179 {source="NCIT:C34995"} property_value: excluded_subClassOf MONDO:0015657 {source="Orphanet:797"} property_value: excluded_subClassOf MONDO:0016177 {source="Orphanet:797"} property_value: excluded_subClassOf MONDO:0016345 {source="Orphanet:797"} property_value: excluded_subClassOf MONDO:0017259 {source="Orphanet:797"} property_value: excluded_subClassOf MONDO:0017260 {source="Orphanet:797"} property_value: excluded_subClassOf MONDO:0017261 {source="Orphanet:797"} property_value: excluded_subClassOf MONDO:0019724 {source="Orphanet:797"} property_value: excluded_subClassOf MONDO:0019843 {source="Orphanet:797"} [Term] id: MONDO:0019339 name: 47,XYY syndrome def: "47, XYY syndrome is a sex chromosome aneuploidy where males receive an additional Y chromosome, and is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder." [Orphanet:8] subset: ordo_malformation_syndrome {source="Orphanet:8"} synonym: "47, XYY syndrome" RELATED [GARD:0005674] synonym: "47,XYY" EXACT [NCIT:C85237] synonym: "47,XYY syndrome" EXACT [NCIT:C85237] synonym: "disomy Y" EXACT [Orphanet:8] synonym: "Double Y" EXACT [Orphanet:8] synonym: "Double Y syndrome" EXACT [Orphanet:8] synonym: "XYY karyotype" EXACT [NCIT:C85237] synonym: "XYY syndrome" EXACT [NCIT:C85237] synonym: "Y disomy" EXACT [Orphanet:8] synonym: "YY syndrome" RELATED [GARD:0005674] xref: MedDRA:10056894 {source="Orphanet:8", source="Orphanet:8/e"} xref: MESH:C535317 {source="Orphanet:8", source="MONDO:equivalentTo", source="Orphanet:8/e"} xref: NCIT:C85237 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: Orphanet:8 {source="MONDO:equivalentTo"} xref: SCTID:50749006 {source="MONDO:equivalentTo"} is_a: MONDO:0700028 ! chromosome Y disorder is_a: MONDO:0700065 {source="https://orcid.org/0000-0002-4142-7153"} ! trisomy property_value: closeMatch http://identifiers.org/meddra/10056894 property_value: exactMatch http://identifiers.org/mesh/C535317 property_value: exactMatch http://identifiers.org/snomedct/50749006 property_value: exactMatch NCIT:C85237 property_value: exactMatch Orphanet:8 property_value: excluded_subClassOf MONDO:0002254 {source="NCIT:C85237"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3155 xsd:anyURI [Term] id: MONDO:0019342 name: Seckel syndrome def: "A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a \"bird-headed\" facial appearance." [NCIT:C125488] subset: ordo_malformation_syndrome {source="Orphanet:808"} synonym: "bird-headed dwarfism" EXACT [DOID:0050569] synonym: "Harper's syndrome" EXACT [DOID:0050569] synonym: "nanocephalic Dwarfism" EXACT [NCIT:C125488] synonym: "SCKL" EXACT ABBREVIATION [NCIT:C125488] synonym: "Seckel-type Dwarfism" EXACT [NCIT:C125488] synonym: "Virchow-Seckel dwarfism" EXACT [DOID:0050569] xref: DOID:0050569 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C125488 {source="MONDO:equivalentTo"} xref: OMIMPS:210600 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:808 {source="MONDO:equivalentTo", source="DOID:0050569"} xref: SCTID:57917004 {source="MONDO:equivalentTo"} xref: UMLS:C0265202 {source="Orphanet:808/e", source="MONDO:equivalentTo", source="NCIT:C125488", source="Orphanet:808"} is_a: EFO:1000017 {source="DOID:0050569", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C125488"} ! syndromic disease is_a: MONDO:0017950 {source="Orphanet:808"} ! microcephalic primordial dwarfism property_value: exactMatch DOID:0050569 property_value: exactMatch http://identifiers.org/snomedct/57917004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265202 property_value: exactMatch https://omim.org/phenotypicSeries/PS210600 property_value: exactMatch NCIT:C125488 property_value: exactMatch Orphanet:808 [Term] id: MONDO:0019346 name: sialidosis type 1 def: "Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life." [Orphanet:812] subset: ordo_disease {source="Orphanet:812"} synonym: "cherry red spot myoclonus syndrome" RELATED [GARD:0007639] synonym: "cherry-red spot-myoclonus syndrome" EXACT [Orphanet:812] synonym: "lipomucopolysaccharidosis" EXACT [Orphanet:812] synonym: "myoclonus cherry red spot syndrome" RELATED [GARD:0007639] synonym: "Normomorphic sialidosis" EXACT [Orphanet:812] synonym: "normosomatic sialidosis" EXACT [] synonym: "sialidosis type I" RELATED [GARD:0007639] xref: Orphanet:812 {source="MONDO:equivalentTo"} xref: SCTID:34960006 {source="MONDO:equivalentTo"} xref: UMLS:C0023806 {source="Orphanet:812", source="MONDO:equivalentTo", source="Orphanet:812/e"} xref: UMLS:CN206021 {source="MONDO:equivalentTo"} is_a: MONDO:0017734 {source="Orphanet:812"} ! sialidosis is_a: MONDO:0031422 {source="OMIM:256550"} ! familial mucolipidosis relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch http://identifiers.org/snomedct/34960006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023806 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206021 property_value: exactMatch Orphanet:812 property_value: excluded_subClassOf MONDO:0005328 [Term] id: MONDO:0019347 name: peeling skin syndrome def: "Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS." [Orphanet:817] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:817"} synonym: "deciduous skin" EXACT [Orphanet:817] synonym: "familial continuous skin peeling" RELATED [GARD:0007347] synonym: "familial continuous skin peeling syndrome" EXACT [Orphanet:817] synonym: "idiopathic deciduous skin" EXACT [Orphanet:817] synonym: "keratosis exfoliativa congenita" EXACT [Orphanet:817] synonym: "peeling skin disease" EXACT [Orphanet:817] synonym: "PSS" EXACT ABBREVIATION [Orphanet:817] synonym: "skin peeling syndrome" RELATED [GARD:0007347] xref: DOID:0060283 {source="MONDO:equivalentTo"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIMPS:270300 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:817 {source="MONDO:equivalentTo"} xref: SCTID:239065004 {source="MONDO:equivalentTo"} is_a: MONDO:0017262 {source="Orphanet:817", source="PMID:20643494"} ! inherited non-syndromic ichthyosis property_value: exactMatch DOID:0060283 property_value: exactMatch http://identifiers.org/snomedct/239065004 property_value: exactMatch https://omim.org/phenotypicSeries/PS270300 property_value: exactMatch Orphanet:817 [Term] id: MONDO:0019349 name: Sotos syndrome def: "Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability." [Orphanet:821] subset: ordo_disease {source="Orphanet:821"} synonym: "cerebral gigantism" EXACT [DOID:14748, Orphanet:821] synonym: "cerebral gigantism syndrome" EXACT [NCIT:C75019] synonym: "distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development" RELATED [GARD:0010091] synonym: "Sotos syndrome" EXACT [] synonym: "Sotos' syndrome" EXACT [NCIT:C75019] xref: DECIPHER:17 {source="MONDO:equivalentTo"} xref: DOID:14748 {source="MONDO:equivalentTo"} xref: MedDRA:10064387 {source="Orphanet:821", source="Orphanet:821/e"} xref: MESH:D058495 {source="DOID:14748", source="Orphanet:821", source="MONDO:equivalentTo", source="Orphanet:821/e"} xref: NCIT:C75019 {source="DOID:14748", source="MONDO:equivalentTo"} xref: OMIMPS:117550 {source="MONDO:cjm", source="MONDO:equivalentObsolete"} xref: Orphanet:821 {source="DOID:14748", source="MONDO:equivalentTo"} xref: UMLS:C0175695 {source="NCIT:C75019", source="DOID:14748", source="Orphanet:821", source="MONDO:equivalentTo", source="Orphanet:821/e"} xref: UMLS:CN239475 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75019"} ! syndromic disease is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015160 {source="Orphanet:821"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0016904 {source="Orphanet:821"} ! partial deletion of the long arm of chromosome 5 property_value: closeMatch http://identifiers.org/meddra/10064387 property_value: exactMatch DOID:14748 property_value: exactMatch http://identifiers.org/mesh/D058495 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0175695 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239475 property_value: exactMatch NCIT:C75019 property_value: exactMatch Orphanet:821 property_value: excluded_subClassOf MONDO:0006025 {source="DOID:14748"} property_value: excluded_subClassOf MONDO:0019716 {source="Orphanet:821"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6321 xsd:anyURI [Term] id: MONDO:0019350 name: hereditary spherocytosis def: "Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis." [Orphanet:822] subset: gard_rare {source="GARD:0006639"} subset: ordo_disease {source="Orphanet:822"} synonym: "congenital spherocytic hemolytic anaemia" EXACT OMO:0003005 [] synonym: "congenital spherocytic hemolytic anemia" EXACT [DOID:12971] synonym: "congenital spherocytosis" RELATED [GARD:0006639] synonym: "hereditary spherocytosis" EXACT [] synonym: "Minkowski Chauffard syndrome" EXACT [DOID:12971] synonym: "Minkowski-Chauffard disease" EXACT [Orphanet:822] synonym: "spherocytic anaemia" EXACT OMO:0003005 [] synonym: "spherocytic anemia" EXACT [DOID:12971] xref: DOID:12971 {source="MONDO:equivalentTo"} xref: ICD10CM:D58.0 {source="Orphanet:822", source="MONDO:equivalentTo", source="Orphanet:822/specific", source="Orphanet:822/e", source="DOID:12971"} xref: ICD9:282.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12971"} xref: MedDRA:10019904 {source="Orphanet:822", source="Orphanet:822/e"} xref: MESH:D013103 {source="Orphanet:822", source="MONDO:equivalentTo", source="Orphanet:822/e", source="DOID:12971"} xref: NCIT:C97074 {source="MONDO:equivalentTo", source="DOID:12971"} xref: Orphanet:822 {source="MONDO:equivalentTo", source="DOID:12971"} xref: SCTID:55995005 {source="MONDO:equivalentTo", source="DOID:12971"} xref: UMLS:C0037889 {source="NCIT:C97074", source="Orphanet:822", source="MONDO:equivalentTo", source="Orphanet:822/e", source="DOID:12971"} xref: UMLS:CN206031 {source="MONDO:equivalentTo"} is_a: MONDO:0003689 {source="DOID:12971", source="MESH:D013103", source="NCIT:C97074/inferred"} ! familial hemolytic anemia property_value: closeMatch http://identifiers.org/meddra/10019904 property_value: exactMatch DOID:12971 property_value: exactMatch http://identifiers.org/mesh/D013103 property_value: exactMatch http://identifiers.org/snomedct/55995005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037889 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206031 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D58.0 property_value: exactMatch NCIT:C97074 property_value: exactMatch Orphanet:822 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6639/hereditary-spherocytosis xsd:anyURI {source="GARD:0006639"} [Term] id: MONDO:0019351 name: isolated spina bifida def: "A spina bifida (disease) that is not part of a larger syndrome." [MONDO:patterns/isolated] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:823"} synonym: "cleft spine" RELATED [GARD:0007673] synonym: "isolated spina bifida (disease)" EXACT [] synonym: "nonsyndromic spina bifida (disease)" EXACT [MONDO:patterns/isolated] synonym: "open spine" RELATED [GARD:0007673] xref: MedDRA:10041524 {source="Orphanet:823", source="Orphanet:823/e"} xref: Orphanet:823 {source="MONDO:equivalentTo"} is_a: EFO:0003105 ! spina bifida is_a: MONDO:0015219 ! non-syndromic central nervous system malformation intersection_of: EFO:0003105 ! spina bifida intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation property_value: closeMatch http://identifiers.org/meddra/10041524 property_value: exactMatch Orphanet:823 [Term] id: MONDO:0019353 name: Stargardt disease def: "Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion." [Orphanet:827] subset: gard_rare {source="GARD:0000181"} subset: ordo_disease {source="Orphanet:827"} synonym: "fundus flavimaculatus" EXACT [Orphanet:827] synonym: "juvenile onset macular degeneration" RELATED [GARD:0000181] synonym: "Stargardt 1" EXACT [Orphanet:827] synonym: "Stargardt disease 1" NARROW [DOID:0050817] synonym: "Stargardt macular dystrophy" RELATED [GARD:0000181] xref: DOID:0050817 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:827/inclusion", source="Orphanet:827", source="Orphanet:827/ntbt"} xref: MedDRA:10062766 {source="Orphanet:827", source="Orphanet:827/e"} xref: MESH:D000080362 {source="MONDO:equivalentTo"} xref: NCIT:C85078 {source="MONDO:equivalentTo"} xref: Orphanet:827 {source="MONDO:equivalentTo"} xref: SCTID:47673003 {source="MONDO:equivalentTo"} xref: UMLS:C0271093 {source="MONDO:equivalentTo", source="Orphanet:827", source="NCIT:C85078", source="Orphanet:827/e"} xref: UMLS:C1855465 {source="MONDO:equivalentTo", source="Orphanet:827"} is_a: EFO:0001365 {source="DOID:0050817"} ! age-related macular degeneration is_a: MONDO:0016420 {source="Orphanet:827"} ! familial flecked retinopathy property_value: closeMatch http://identifiers.org/meddra/10062766 property_value: exactMatch DOID:0050817 property_value: exactMatch http://identifiers.org/mesh/D000080362 property_value: exactMatch http://identifiers.org/snomedct/47673003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271093 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855465 property_value: exactMatch NCIT:C85078 property_value: exactMatch Orphanet:827 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/181/stargardt-disease xsd:anyURI {source="GARD:0000181"} [Term] id: MONDO:0019354 name: Stickler syndrome def: "Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases)." [Orphanet:828] comment: Editor notes: DOID places this under AD, but this is inconsistent with MONDO:0016647 autosomal recessive Stickler syndrome subset: ordo_disease {source="Orphanet:828"} synonym: "hereditary progressive arthroophthalmopathy" EXACT [Orphanet:828] synonym: "Stickler syndrome" EXACT [] xref: DOID:0080046 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10063402 {source="Orphanet:828/e", source="Orphanet:828"} xref: NCIT:C74984 {source="MONDO:equivalentTo"} xref: OMIMPS:108300 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:828 {source="MONDO:equivalentTo"} xref: SCTID:78675000 {source="MONDO:equivalentTo"} xref: UMLS:C0265253 {source="Orphanet:828/e", source="MONDO:equivalentTo", source="Orphanet:828", source="NCIT:C74984"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C74984"} ! syndromic disease is_a: MONDO:0016761 {source="Orphanet:828"} ! spondyloepiphyseal dysplasia is_a: MONDO:0018187 ! hereditary syndromic Pierre Robin syndrome is_a: MONDO:0018751 ! hereditary otorhinolaryngologic disease is_a: MONDO:0020248 {source="Orphanet:828", source="https://orcid.org/0000-0001-5208-3432"} ! vitreoretinal degeneration relationship: disease_has_feature MONDO:0004603 ! collagenopathy property_value: closeMatch http://identifiers.org/meddra/10063402 property_value: exactMatch DOID:0080046 property_value: exactMatch http://identifiers.org/snomedct/78675000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265253 property_value: exactMatch https://omim.org/phenotypicSeries/PS108300 property_value: exactMatch NCIT:C74984 property_value: exactMatch Orphanet:828 [Term] id: MONDO:0019356 name: urogenital tract malformation subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:83001"} xref: ICD10CM:Q60-Q64 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: Orphanet:83001 {source="MONDO:equivalentTo"} is_a: MONDO:0019755 {source="Orphanet:83001"} ! developmental defect during embryogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015106"} ! rare property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q60-Q64 property_value: exactMatch Orphanet:83001 [Term] id: MONDO:0019358 name: encephalopathy due to sulfite oxidase deficiency def: "Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." [Orphanet:833] subset: ordo_disease {source="Orphanet:833"} xref: Orphanet:833 {source="MONDO:equivalentTo"} xref: SCTID:715980003 {source="MONDO:equivalentTo"} xref: UMLS:C4275019 {source="MONDO:equivalentTo"} is_a: EFO:0009674 ! lens disease is_a: MONDO:0015327 {source="MONDO:Redundant", source="Orphanet:833"} ! developmental anomaly of metabolic origin is_a: MONDO:0019222 {source="Orphanet:833"} ! inborn disorder of methionine cycle and sulfur amino acid metabolism property_value: exactMatch http://identifiers.org/snomedct/715980003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275019 property_value: exactMatch Orphanet:833 [Term] id: MONDO:0019362 name: epidemic louse-borne typhus def: "A gram-negative bacterial infection caused by Rickettsia prowazekii. It is spread by lice infected with the bacteria. Signs and symptoms include sudden headache, generalized muscle pain, malaise, and macular skin lesions. The infection may affect the central nervous system causing encephalitis." [NCIT:C84689] subset: ordo_disease {source="Orphanet:83314"} synonym: "epidemic louse-borne typhus" EXACT [NCIT:C84689] synonym: "epidemic typhus" EXACT [NCIT:C84689] synonym: "epidemic typhus fever" EXACT [NCIT:C84689] synonym: "sylvatic typhus" EXACT [DOID:0050480] synonym: "typhus" BROAD [Wikipedia:Typhus] xref: DOID:0050480 {source="MONDO:equivalentTo"} xref: MedDRA:10014979 {source="Orphanet:83314", source="Orphanet:83314/e"} xref: NCIT:C84689 {source="MONDO:equivalentTo"} xref: Orphanet:83314 {source="MONDO:equivalentTo"} is_a: EFO:0009117 {source="DOID:0050480", source="MONDO:Redundant", source="Orphanet:83314"} ! typhus property_value: closeMatch http://identifiers.org/meddra/10014979 property_value: exactMatch DOID:0050480 property_value: exactMatch NCIT:C84689 property_value: exactMatch Orphanet:83314 [Term] id: MONDO:0019366 name: free sialic acid storage disease def: "Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD)." [Orphanet:834] subset: ordo_disease {source="Orphanet:834"} synonym: "free sialic acid storage disease" EXACT [] xref: MedDRA:10067529 {source="Orphanet:834", source="Orphanet:834/e"} xref: MedDRA:10067531 {source="Orphanet:834", source="Orphanet:834/e"} xref: MESH:C538523 {source="Orphanet:834", source="MONDO:equivalentTo", source="Orphanet:834/e"} xref: Orphanet:834 {source="MONDO:equivalentTo"} xref: UMLS:C2931872 {source="Orphanet:834", source="MONDO:equivalentTo", source="Orphanet:834/e"} xref: UMLS:CN206051 {source="MONDO:equivalentTo"} is_a: MONDO:0019246 {source="Orphanet:834", source="https://orcid.org/0000-0001-5208-3432"} ! inborn disorder of lysosomal amino acid transport property_value: closeMatch http://identifiers.org/meddra/10067529 property_value: closeMatch http://identifiers.org/meddra/10067531 property_value: exactMatch http://identifiers.org/mesh/C538523 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931872 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206051 property_value: exactMatch Orphanet:834 [Term] id: MONDO:0019374 name: CAMOS syndrome def: "CAMOS syndrome is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive." [Orphanet:83472] subset: ordo_malformation_syndrome {source="Orphanet:83472"} synonym: "CAMOS" RELATED ABBREVIATION [GARD:0009977] synonym: "cerebellar ataxia with intellectual disability optic atrophy and skin abnormalities" RELATED [GARD:0009977] synonym: "cerebellar ataxia with mental retardation optic atrophy and skin abnormalities" RELATED DEPRECATED [GARD:0009977] synonym: "cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome" EXACT [Orphanet:83472] synonym: "SCAR5" EXACT ABBREVIATION [Orphanet:83472] synonym: "spinocerebellar ataxia autosomal recessive 5" RELATED [GARD:0009977] xref: OMIM:606937 {source="Orphanet:83472", source="MONDO:equivalentObsolete", source="Orphanet:83472/e"} xref: Orphanet:83472 {source="MONDO:equivalentTo"} xref: SCTID:726031001 {source="MONDO:equivalentTo"} xref: UMLS:C1847114 {source="Orphanet:83472", source="MONDO:equivalentTo"} xref: UMLS:C4511633 {source="MONDO:equivalentTo"} is_a: MONDO:0020043 {source="Orphanet:83472"} ! autosomal recessive congenital cerebellar ataxia property_value: exactMatch http://identifiers.org/snomedct/726031001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847114 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4511633 property_value: exactMatch Orphanet:83472 [Term] id: MONDO:0019375 name: megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome def: "Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic." [Orphanet:83473] subset: ordo_malformation_syndrome {source="Orphanet:83473"} synonym: "megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus" RELATED [GARD:0010341] synonym: "megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome" RELATED [GARD:0010341] synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome" RELATED [GARD:0010341, OMIMPS:603387] synonym: "MPPH syndrome" EXACT [Orphanet:83473] xref: OMIMPS:603387 {source="MONDO:equivalentTo"} xref: Orphanet:83473 {source="MONDO:equivalentTo"} xref: SCTID:722036008 {source="MONDO:equivalentTo"} is_a: MONDO:0011348 ! non-syndromic polydactyly is_a: MONDO:0015219 ! non-syndromic central nervous system malformation is_a: MONDO:0016349 ! congenital hydrocephalus is_a: MONDO:0100283 {source="https://clinicalgenome.org/affiliation/40020/", source="https://github.com/monarch-initiative/mondo/issues/2547"} ! overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes property_value: exactMatch http://identifiers.org/snomedct/722036008 property_value: exactMatch https://omim.org/phenotypicSeries/PS603387 property_value: exactMatch Orphanet:83473 [Term] id: MONDO:0019386 name: progressive rubella panencephalitis def: "A neurological disorder arising from primary rubella infection of the brain, characterized by chronic encephalitis. It is believed to be due to a persistence or reactivation of rubella virus infection. It usually manifesting between 8–19 years of age." [Wikipedia:Progressive_rubella_panencephalitis] subset: ordo_disease {source="Orphanet:83616"} synonym: "rubella panencephalitis" RELATED [] xref: ICD10EXP:B06.0+ {source="Orphanet:83616/ntbt", source="Orphanet:83616"} xref: ICD10EXP:G05.1* {source="Orphanet:83616/ntbt", source="Orphanet:83616"} xref: Orphanet:83616 {source="MONDO:equivalentTo"} xref: SCTID:10082001 {source="MONDO:equivalentTo"} xref: UMLS:C1305924 {source="MONDO:equivalentTo"} xref: Wikipedia:Progressive_rubella_panencephalitis is_a: MONDO:0020069 {source="Orphanet:83616"} ! chronic encephalitis is_a: MONDO:0020648 ! rubella encephalitis intersection_of: MONDO:0020069 ! chronic encephalitis intersection_of: disease_arises_from_feature EFO:1002026 ! rubella relationship: has_characteristic MONDO:0021141 {source="Orphanet:83616"} ! acquired property_value: exactMatch http://identifiers.org/snomedct/10082001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1305924 property_value: exactMatch Orphanet:83616 [Term] id: MONDO:0019387 name: macrostomia-preauricular tags-external ophthalmoplegia syndrome def: "Macrostomia-preauricular tags-external ophthalmoplegia syndrome combines macrostomia or abnormal mouth contour, preauricular tags, uni- or bilateral ptosis and external ophthalmoplegia. It was described in nine members of a Brazilian family. It is a new phenotype belonging to the so-called oculoauriculovertebral spectrum, resulting from a branchial arch anomaly. Transmission is autosomal dominant." [Orphanet:83619] subset: ordo_malformation_syndrome {source="Orphanet:83619"} xref: Orphanet:83619 {source="MONDO:equivalentTo"} xref: UMLS:CN206081 {source="MONDO:equivalentTo"} is_a: MONDO:0015161 {source="Orphanet:83619"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206081 property_value: exactMatch Orphanet:83619 [Term] id: MONDO:0019388 name: pelvis syndrome def: "PELVIS is an acronym defining the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported." [Orphanet:83628] subset: ordo_malformation_syndrome {source="Orphanet:83628"} synonym: "Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome" EXACT [Orphanet:83628] synonym: "LUMBAR syndrome" EXACT [Orphanet:83628] synonym: "perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus syndrome" EXACT [Orphanet:83628] synonym: "SACRAL syndrome" EXACT [Orphanet:83628] synonym: "urorectal septum malformation sequence" EXACT [Orphanet:83628] xref: Orphanet:83628 {source="MONDO:equivalentTo"} xref: SCTID:725138002 {source="MONDO:equivalentTo"} xref: UMLS:C4510867 {source="MONDO:equivalentTo"} xref: UMLS:CN206083 {source="MONDO:equivalentTo"} is_a: MONDO:0015161 {source="Orphanet:83628"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015246 {source="Orphanet:83628"} ! syndromic anorectal malformation is_a: MONDO:0024296 ! vascular neoplasm property_value: exactMatch http://identifiers.org/snomedct/725138002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510867 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206083 property_value: exactMatch Orphanet:83628 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5345 xsd:anyURI [Term] id: MONDO:0019391 name: Fanconi anemia def: "Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." [Orphanet:84] subset: clingen subset: ordo_malformation_syndrome {source="Orphanet:84"} synonym: "Fanconi anemia" EXACT [] synonym: "Fanconi pancytopenia" EXACT [DOID:13636, Orphanet:84] synonym: "Fanconi panmyelopathy" EXACT [DOID:13636] synonym: "Fanconi's anaemia" EXACT OMO:0003005 [] synonym: "Fanconi's anemia" EXACT [DOID:13636] synonym: "pancytopenia, congenital" EXACT [NCIT:C62505] synonym: "Panmyelopathy, Fanconi" EXACT [NCIT:C62505] synonym: "primary erythroid hypoplasia" EXACT [NCIT:C62505] xref: DOID:13636 {source="MONDO:equivalentTo"} xref: ICD9:284.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10055206 {source="Orphanet:84/e", source="Orphanet:84"} xref: MESH:D005199 {source="DOID:13636", source="Orphanet:84/e", source="MONDO:equivalentTo", source="Orphanet:84"} xref: NCIT:C62505 {source="DOID:13636", source="MONDO:equivalentTo"} xref: OMIMPS:227650 {source="DOID:13636", source="MONDO:equivalentTo"} xref: Orphanet:84 {source="DOID:13636", source="MONDO:equivalentTo"} xref: SCTID:30575002 {source="DOID:13636", source="MONDO:equivalentTo"} xref: UMLS:C0015625 {source="DOID:13636", source="NCIT:C62505", source="Orphanet:84/e", source="MONDO:equivalentTo", source="Orphanet:84"} is_a: EFO:0008499 {source="MESH:D005199", source="MONDO:Redundant", source="NCIT:C62505"} ! DNA repair deficiency is_a: MONDO:0000577 ! congenital anemia is_a: MONDO:0001713 {source="DOID:13636", source="MESH:D005199", source="Orphanet:84"} ! inherited aplastic anemia is_a: MONDO:0003225 {source="PMID:31953710"} ! bone marrow disorder is_a: MONDO:0015161 {source="Orphanet:84"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation is_a: MONDO:0100137 {source="PMID:29804726"} ! telomere syndrome property_value: closeMatch http://identifiers.org/meddra/10055206 property_value: exactMatch DOID:13636 property_value: exactMatch http://identifiers.org/mesh/D005199 property_value: exactMatch http://identifiers.org/snomedct/30575002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015625 property_value: exactMatch https://omim.org/phenotypicSeries/PS227650 property_value: exactMatch NCIT:C62505 property_value: exactMatch Orphanet:84 property_value: excluded_subClassOf MONDO:0019289 {source="Orphanet:84"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5682 xsd:anyURI [Term] id: MONDO:0019394 name: Senior-Boichis syndrome def: "Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child." [Orphanet:84081] subset: ordo_disease {source="Orphanet:84081"} synonym: "Boichis disease" EXACT [Orphanet:84081] synonym: "nephronophthisis-hepatic fibrosis syndrome" EXACT [Orphanet:84081] xref: Orphanet:84081 {source="MONDO:equivalentTo"} xref: SCTID:717187000 {source="MONDO:equivalentTo"} xref: UMLS:CN206093 {source="MONDO:equivalentTo"} is_a: MONDO:0015962 {source="Orphanet:84081"} ! inherited renal tubular disease property_value: exactMatch http://identifiers.org/snomedct/717187000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206093 property_value: exactMatch Orphanet:84081 [Term] id: MONDO:0019397 name: unknown leukodystrophy subset: ordo_disease {source="Orphanet:84096"} xref: Orphanet:84096 {source="MONDO:equivalentObsolete"} is_a: MONDO:0019046 {source="Orphanet:84096"} ! leukodystrophy [Term] id: MONDO:0019398 name: desmin-related myopathy with Mallory body-like inclusions subset: ordo_disease {source="Orphanet:84132"} synonym: "early-onset desmin-related myopathy" EXACT [Orphanet:84132] xref: Orphanet:84132 {source="MONDO:equivalentTo"} is_a: MONDO:0011271 ! rigid spine muscular dystrophy 1 is_a: MONDO:0016112 {source="Orphanet:84132"} ! hereditary inclusion-body myopathy property_value: exactMatch Orphanet:84132 [Term] id: MONDO:0019401 name: sporadic idiopathic steroid-resistant nephrotic syndrome def: "Steroid-resistant, sporadic idiopathic nephrotic syndrome, is a heterogeneous entity. Nephrotic syndrome is characterized by marked proteinuria, with reduced plasmatic levels of albumin, and potentially with edema." [Orphanet:84271] subset: ordo_clinical_syndrome {source="Orphanet:84271"} synonym: "sporadic idiopathic nephrosis" EXACT [Orphanet:84271] xref: Orphanet:84271 {source="MONDO:equivalentObsolete"} xref: SCTID:717191005 {source="MONDO:equivalentTo"} xref: UMLS:C4274017 {source="MONDO:equivalentTo"} is_a: MONDO:0018170 {source="Orphanet:84271"} ! idiopathic nephrotic syndrome is_a: MONDO:0044765 {source="https://orcid.org/0000-0001-5208-3432"} ! steroid-resistant nephrotic syndrome property_value: exactMatch http://identifiers.org/snomedct/717191005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274017 [Term] id: MONDO:0019402 name: beta thalassemia def: "Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb)." [Orphanet:848] subset: ordo_disease {source="Orphanet:848"} synonym: "Beta thalassemia intermedia" RELATED [GARD:0000871] synonym: "Beta thalassemia minor" RELATED [GARD:0000871] synonym: "erythroblastic anaemia" RELATED OMO:0003005 [] synonym: "erythroblastic anemia" RELATED [GARD:0000871] synonym: "thalassemia major" RELATED [NCIT:C34375] synonym: "thalassemia, Hispanic gamma-delta-beta" RELATED [GARD:0000871] synonym: "Thalassemias, beta-" RELATED [GARD:0000871] xref: DOID:12241 {source="MONDO:equivalentTo"} xref: ICD9:282.44 {source="DOID:12241"} xref: ICD9:282.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10043391 {source="Orphanet:848", source="Orphanet:848/e"} xref: MESH:D017086 {source="MONDO:equivalentTo", source="DOID:12241", source="Orphanet:848", source="Orphanet:848/e"} xref: NCIT:C34375 {source="MONDO:equivalentTo", source="DOID:12241"} xref: Orphanet:848 {source="MONDO:equivalentTo", source="DOID:12241"} xref: SCTID:65959000 {source="MONDO:equivalentTo", source="DOID:12241"} is_a: EFO:1001996 {source="DOID:12241", source="MESH:D017086", source="NCIT:C34375", source="Orphanet:848/inferred"} ! Thalassemia is_a: MONDO:0017145 {source="Orphanet:848"} ! beta-thalassemia and related diseases is_a: MONDO:0019844 {source="Orphanet:848"} ! pituitary hormone deficiency secondary to storage disease property_value: closeMatch http://identifiers.org/meddra/10043391 property_value: exactMatch DOID:12241 property_value: exactMatch http://identifiers.org/mesh/D017086 property_value: exactMatch http://identifiers.org/snomedct/65959000 property_value: exactMatch NCIT:C34375 property_value: exactMatch Orphanet:848 property_value: excluded_subClassOf MONDO:0005240 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5657 xsd:anyURI [Term] id: MONDO:0019403 name: congenital dyserythropoietic anemia def: "Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA." [Orphanet:85] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:85"} synonym: "anemia, congenital dyserythropoietic" EXACT [OMIMPS:224120] synonym: "CDA" EXACT ABBREVIATION [Orphanet:85] synonym: "congenital dyshaematopoietic anaemia" EXACT OMO:0003005 [] synonym: "congenital dyshaematopoietic anemia" EXACT [DOID:1338] synonym: "dyserythropoietic anemia, congenital" RELATED [GARD:0001999] xref: DOID:1338 {source="MONDO:equivalentTo"} xref: ICD10CM:D64.4 {source="Orphanet:85/specific", source="Orphanet:85/e", source="MONDO:equivalentTo", source="DOID:1338", source="Orphanet:85"} xref: ICD9:285.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D000742 {source="Orphanet:85/e", source="MONDO:equivalentTo", source="DOID:1338", source="Orphanet:85"} xref: NCIT:C84646 {source="MONDO:equivalentTo", source="DOID:1338"} xref: OMIMPS:224120 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:85 {source="MONDO:equivalentTo", source="DOID:1338"} xref: SCTID:52951008 {source="MONDO:equivalentTo", source="DOID:1338"} xref: UMLS:C0002876 {source="NCIT:C84646", source="Orphanet:85/e", source="MONDO:equivalentTo", source="DOID:1338", source="Orphanet:85"} is_a: MONDO:0003689 {source="DOID:1338", source="MESH:D000742"} ! familial hemolytic anemia is_a: MONDO:0017397 {source="Orphanet:85"} ! constitutional dyserythropoietic anemia property_value: exactMatch DOID:1338 property_value: exactMatch http://identifiers.org/mesh/D000742 property_value: exactMatch http://identifiers.org/snomedct/52951008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002876 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D64.4 property_value: exactMatch https://omim.org/phenotypicSeries/PS224120 property_value: exactMatch NCIT:C84646 property_value: exactMatch Orphanet:85 [Term] id: MONDO:0019404 name: perineurioma def: "A usually benign perineurioma not associated with a nerve, arising from the soft tissues." [NCIT:P378] subset: disease_grouping subset: gard_rare {source="GARD:0012698"} subset: ordo_group_of_disorders {source="Orphanet:85102"} synonym: "perineurioma" EXACT [NCIT:C4973] synonym: "soft tissue perineurioma" RELATED [DOID:4697, NCIT:C6912] xref: DOID:4697 {source="MONDO:equivalentTo"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9571/0 {source="NCIT:C4973"} xref: NCIT:C4973 {source="DOID:4697", source="MONDO:equivalentTo"} xref: Orphanet:85102 {source="MONDO:equivalentTo"} xref: SCTID:404036006 {source="DOID:4697", source="MONDO:equivalentTo"} xref: UMLS:C0751691 {source="DOID:4697", source="Orphanet:85102", source="MONDO:equivalentTo", source="NCIT:C4973", source="Orphanet:85102/e"} is_a: MONDO:0002547 {source="DOID:4697", source="NCIT:C4973"} ! nerve sheath neoplasm is_a: MONDO:0016749 {source="Orphanet:85102"} ! tumor of cranial and spinal nerves property_value: exactMatch DOID:4697 property_value: exactMatch http://identifiers.org/snomedct/404036006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751691 property_value: exactMatch NCIT:C4973 property_value: exactMatch Orphanet:85102 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12698/perineurioma xsd:anyURI {source="GARD:0012698"} [Term] id: MONDO:0019405 name: facial onset sensory and motor neuronopathy def: "Facial onset sensory and motor neuronopathy is characterized initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease." [Orphanet:85162] subset: gard_rare {source="GARD:0012036"} subset: ordo_disease {source="Orphanet:85162"} synonym: "facial onset sensorimotor neuronopathy syndrome" RELATED [GARD:0012036] synonym: "facial onset sensory and motor neuronopathy syndrome" RELATED [GARD:0012036] synonym: "FOSMN syndrome" EXACT [Orphanet:85162] xref: Orphanet:85162 {source="MONDO:equivalentTo"} xref: SCTID:723306004 {source="MONDO:equivalentTo"} xref: UMLS:CN206118 {source="MONDO:equivalentTo"} is_a: MONDO:0024237 {source="Orphanet:85162"} ! inherited neurodegenerative disorder property_value: exactMatch http://identifiers.org/snomedct/723306004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206118 property_value: exactMatch Orphanet:85162 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12036/facial-onset-sensory-and-motor-neuronopathy xsd:anyURI {source="GARD:0012036"} [Term] id: MONDO:0019406 name: craniofacial conodysplasia def: "Craniofacial conodysplasia is characterized by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait." [Orphanet:85168] subset: ordo_malformation_syndrome {source="Orphanet:85168"} xref: Orphanet:85168 {source="MONDO:equivalentTo"} is_a: MONDO:0019695 {source="Orphanet:85168"} ! acromelic dysplasia property_value: exactMatch Orphanet:85168 [Term] id: MONDO:0019407 name: microcephalic osteodysplastic dysplasia, Saul-Wilson type def: "A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has material basis in heterozygous mutation in COG4 on chromosome 16q22.1." [ECO:0007645, PMID:30290151] subset: ordo_disease {source="Orphanet:85172"} synonym: "microcephalic osteodysplastic dysplasia" EXACT [OMIM:618150] synonym: "microcephalic osteodysplastic dysplasia, Saul-Wilson type" EXACT [DOID:0111673] synonym: "Saul-Wilson syndrome" EXACT [MONDO:0029146, OMIM:618150] synonym: "SWILS" EXACT ABBREVIATION [DOID:0111673, OMIM:618150] xref: DOID:0111673 {source="MONDO:equivalentTo"} xref: OMIM:618150 {source="MONDO:equivalentTo", source="DOID:0111673"} xref: Orphanet:85172 {source="MONDO:equivalentTo", source="DOID:0111673"} is_a: EFO:0005541 {source="DOID:0111673"} ! bone development disease is_a: MONDO:0000426 {source="DOID:0111673"} ! autosomal dominant disease is_a: MONDO:0017950 {source="Orphanet:85172"} ! microcephalic primordial dwarfism is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder property_value: exactMatch DOID:0111673 property_value: exactMatch https://omim.org/entry/618150 property_value: exactMatch Orphanet:85172 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0019408 name: Astley-Kendall dysplasia def: "Astley-Kendall dysplasia is a lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases." [Orphanet:85175] subset: ordo_malformation_syndrome {source="Orphanet:85175"} synonym: "Astley-Kendall syndrome" RELATED [GARD:0009220] synonym: "short limbed dwarfism with extensive stippling" RELATED [GARD:0009220] xref: MESH:C535392 {source="MONDO:equivalentTo"} xref: Orphanet:85175 {source="MONDO:equivalentTo"} xref: SCTID:389263004 {source="MONDO:equivalentTo"} xref: UMLS:C1300228 {source="MONDO:equivalentTo", source="Orphanet:85175"} is_a: MONDO:0019701 {source="MESH:C535392", source="Orphanet:85175"} ! chondrodysplasia punctata property_value: exactMatch http://identifiers.org/mesh/C535392 property_value: exactMatch http://identifiers.org/snomedct/389263004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1300228 property_value: exactMatch Orphanet:85175 [Term] id: MONDO:0019409 name: idiopathic juvenile osteoporosis def: "Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization childhood or adolescence that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. Onset usually occurs in the prepubertal period, between 8 and 12 years of age." [Orphanet:85193] subset: ordo_malformation_syndrome {source="Orphanet:85193"} synonym: "idiopathic juvenile osteoporosis" EXACT [OMIM:259750] synonym: "idiopathic osteoporosis" EXACT [DOID:12559] synonym: "Ijo" EXACT [Orphanet:85193] synonym: "juvenile osteoporosis" EXACT [DOID:12559, Orphanet:85193] synonym: "osteoporosis, juvenile" RELATED [OMIM:259750] synonym: "Paediatric osteoporosis" EXACT OMO:0003005 [] synonym: "Pediatric osteoporosis" EXACT [NCIT:C119996] xref: DOID:12559 {source="MONDO:equivalentTo"} xref: ICD9:733.02 {source="DOID:12559", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:C537700 {source="MONDO:equivalentTo"} xref: NCIT:C119996 {source="MONDO:equivalentTo"} xref: OMIM:259750 {source="DOID:12559", source="MONDO:equivalentTo", source="Orphanet:85193/btnt", source="Orphanet:85193"} xref: OMIM:615221 {source="MONDO:relatedTo", source="Orphanet:85193/btnt", source="Orphanet:85193"} xref: Orphanet:85193 {source="OMIM:259750", source="MONDO:equivalentTo"} xref: SCTID:3345002 {source="DOID:12559", source="MONDO:equivalentTo"} xref: UMLS:CN536248 {source="MONDO:equivalentTo"} is_a: EFO:0003882 {source="DC-OMIM:259750", source="DOID:12559", source="MESH:C537700", source="NCIT:C119996"} ! osteoporosis is_a: EFO:0005755 {source="Orphanet:85193"} ! rheumatic disease is_a: MONDO:0023603 ! hereditary disorder of connective tissue is_a: MONDO:0700007 ! idiopathic disease property_value: exactMatch DOID:12559 property_value: exactMatch http://identifiers.org/mesh/C537700 property_value: exactMatch http://identifiers.org/snomedct/3345002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN536248 property_value: exactMatch https://omim.org/entry/259750 property_value: exactMatch NCIT:C119996 property_value: exactMatch Orphanet:85193 property_value: excluded_subClassOf MONDO:0019704 {source="Orphanet:85193"} property_value: relatedMatch https://omim.org/entry/615221 [Term] id: MONDO:0019411 name: genochondromatosis type 1 def: "Genochondromatosis is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It has been described four patients from the same family and is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. It has been described in one unrelated family. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course." [Orphanet:85197] subset: ordo_disease {source="Orphanet:85197"} xref: Orphanet:85197 {source="MONDO:equivalentTo"} is_a: MONDO:0007653 {source="https://orcid.org/0000-0001-5208-3432"} ! genochondromatosis property_value: exactMatch Orphanet:85197 property_value: excluded_subClassOf MONDO:0019708 {source="Orphanet:85197"} [Term] id: MONDO:0019412 name: dysspondyloenchondromatosis def: "Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry." [Orphanet:85198] subset: ordo_malformation_syndrome {source="Orphanet:85198"} xref: Orphanet:85198 {source="MONDO:equivalentTo"} xref: SCTID:722434004 {source="MONDO:equivalentTo"} xref: UMLS:C4302548 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="Orphanet:85198"} ! skeletal dysplasia property_value: exactMatch http://identifiers.org/snomedct/722434004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4302548 property_value: exactMatch Orphanet:85198 property_value: excluded_subClassOf MONDO:0019708 {source="Orphanet:85198"} [Term] id: MONDO:0019413 name: ischio-vertebral syndrome def: "Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism." [Orphanet:85200] subset: ordo_malformation_syndrome {source="Orphanet:85200"} synonym: "ischio-spinal dysostosis" EXACT [Orphanet:85200] synonym: "ischio-vertebral dysplasia" EXACT [Orphanet:85200] xref: Orphanet:85200 {source="MONDO:equivalentTo"} xref: SCTID:715654001 {source="MONDO:equivalentTo"} xref: UMLS:C4274732 {source="MONDO:equivalentTo"} xref: UMLS:CN206143 {source="MONDO:equivalentTo"} is_a: MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin property_value: exactMatch http://identifiers.org/snomedct/715654001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274732 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206143 property_value: exactMatch Orphanet:85200 [Term] id: MONDO:0019414 name: BRESEK syndrome def: "A syndrome characterized by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome)." [Orphanet:85284] subset: ordo_malformation_syndrome {source="Orphanet:85284"} synonym: "BRESHECK syndrome" EXACT [Orphanet:85284] xref: MESH:C564519 {source="MONDO:equivalentTo"} xref: Orphanet:85284 {source="MONDO:equivalentTo"} xref: SCTID:717945001 {source="MONDO:equivalentTo"} xref: UMLS:C3502469 {source="MONDO:equivalentTo", source="Orphanet:85284"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: exactMatch http://identifiers.org/mesh/C564519 property_value: exactMatch http://identifiers.org/snomedct/717945001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3502469 property_value: exactMatch Orphanet:85284 property_value: excluded_subClassOf MONDO:0015159 {source="Orphanet:85284"} property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:85284"} property_value: excluded_subClassOf MONDO:0100213 [Term] id: MONDO:0019416 name: X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome def: "X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration. This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23." [Orphanet:85317] subset: ordo_malformation_syndrome {source="Orphanet:85317"} xref: Orphanet:85317 {source="MONDO:equivalentTo"} xref: UMLS:CN206172 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:85317"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020119 {source="Orphanet:85317", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206172 property_value: exactMatch Orphanet:85317 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0019417 name: X-linked intellectual disability-precocious puberty-obesity syndrome def: "X-linked intellectual disability-precocious puberty-obesity syndrome is characterized by moderate intellectual deficit and precocious puberty. It has been described in three males from two generations of one Australian family. Morbid obesity was noted in the mothers of the patients. Transmission is X-linked." [Orphanet:85318] subset: ordo_malformation_syndrome {source="Orphanet:85318"} xref: Orphanet:85318 {source="MONDO:equivalentObsolete"} xref: UMLS:CN227629 {source="MONDO:equivalentTo"} is_a: MONDO:0020119 {source="Orphanet:85318", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227629 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0019418 name: X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome def: "X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterized by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked." [Orphanet:85319] subset: ordo_malformation_syndrome {source="Orphanet:85319"} xref: Orphanet:85319 {source="MONDO:equivalentTo"} xref: UMLS:CN206173 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:85319"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020119 {source="Orphanet:85319", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206173 property_value: exactMatch Orphanet:85319 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0019419 name: X-linked intellectual disability-macrocephaly-macroorchidism syndrome def: "X-linked intellectual disability-macrocephaly-macroorchidism syndrome is characterized by intellectual deficit affecting both sexes, macrocephaly, and macroorchidism in the majority of affected males. It has been described in 12 individuals from two generations of one family. Other males from this family did not display intellectual deficit but did present macroorchidism and macrocephaly. Transmission is X-linked and the causative gene has been localized to the q12-q21 region of the X chromosome." [Orphanet:85320] subset: ordo_malformation_syndrome {source="Orphanet:85320"} synonym: "Johnson syndrome" EXACT [Orphanet:85320] xref: Orphanet:85320 {source="MONDO:equivalentTo"} xref: SCTID:719825000 {source="MONDO:equivalentTo"} xref: UMLS:CN206174 {source="MONDO:equivalentTo"} is_a: MONDO:0020119 {source="Orphanet:85320", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch http://identifiers.org/snomedct/719825000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206174 property_value: exactMatch Orphanet:85320 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0019420 name: X-linked intellectual disability, Pai type def: "X-linked intellectual disability, Pai type is characterized by the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been localized to the q28 region of the X chromosome." [Orphanet:85322] subset: ordo_malformation_syndrome {source="Orphanet:85322"} xref: Orphanet:85322 {source="MONDO:equivalentTo"} xref: SCTID:719011002 {source="MONDO:equivalentTo"} xref: UMLS:CN206176 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:85322"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020119 {source="Orphanet:85322", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch http://identifiers.org/snomedct/719011002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206176 property_value: exactMatch Orphanet:85322 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0019421 name: X-linked intellectual disability, Seemanova type def: "X-linked intellectual disability, Seemanova type is characterized by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked." [Orphanet:85323] subset: ordo_disease {source="Orphanet:85323"} xref: Orphanet:85323 {source="MONDO:equivalentTo"} xref: SCTID:718897009 {source="MONDO:equivalentTo"} xref: UMLS:CN227630 {source="MONDO:equivalentTo"} is_a: MONDO:0020119 {source="Orphanet:85323", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch http://identifiers.org/snomedct/718897009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227630 property_value: exactMatch Orphanet:85323 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0019422 name: X-linked intellectual disability, Stevenson type def: "An X-linked syndromic intellectual disability characterized by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome." [Orphanet:85325] subset: ordo_malformation_syndrome {source="Orphanet:85325"} xref: Orphanet:85325 {source="MONDO:equivalentTo"} xref: SCTID:718909001 {source="MONDO:equivalentTo"} xref: UMLS:CN206178 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:85325"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020119 {source="Orphanet:85325", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch http://identifiers.org/snomedct/718909001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206178 property_value: exactMatch Orphanet:85325 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0019423 name: X-linked intellectual disability, Stoll type def: "X-linked intellectual disability, Stoll type is characterized by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked." [Orphanet:85326] subset: ordo_malformation_syndrome {source="Orphanet:85326"} xref: Orphanet:85326 {source="MONDO:equivalentTo"} xref: SCTID:718911005 {source="MONDO:equivalentTo"} xref: UMLS:CN206179 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:85326"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020119 {source="Orphanet:85326", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch http://identifiers.org/snomedct/718911005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206179 property_value: exactMatch Orphanet:85326 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0019424 name: X-linked intellectual disability-acromegaly-hyperactivity syndrome def: "X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterized by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behavior, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region." [Orphanet:85327] subset: ordo_disease {source="Orphanet:85327"} xref: Orphanet:85327 {source="MONDO:equivalentTo"} xref: UMLS:CN227631 {source="MONDO:equivalentTo"} is_a: MONDO:0020119 {source="Orphanet:85327", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227631 property_value: exactMatch Orphanet:85327 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0019425 name: obsolete X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2843 xsd:anyURI is_obsolete: true replaced_by: MONDO:0010574 [Term] id: MONDO:0019426 name: X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome def: "X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome is characterized by intellectual and motor deficit, spastic quadriparesis and agenesis of the corpus callosum, without craniofacial abnormalities or seizures. It has been described in four male members of a family. The mode of inheritance is most likely X-linked recessive." [Orphanet:85330] subset: ordo_disease {source="Orphanet:85330"} synonym: "X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis" RELATED [GARD:0012489] xref: Orphanet:85330 {source="MONDO:equivalentObsolete"} xref: UMLS:CN206182 {source="MONDO:equivalentTo"} is_a: MONDO:0020119 {source="Orphanet:85330", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability is_a: MONDO:0021147 {source="MONDO:0017122-obsoleted"} ! disorder of development or morphogenesis property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206182 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0019427 name: X-linked neurodegenerative syndrome, Bertini type def: "X-linked neurodegenerative syndrome, Bertini type is characterized by generalized hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter." [Orphanet:85334] subset: ordo_disease {source="Orphanet:85334"} xref: Orphanet:85334 {source="MONDO:equivalentTo"} xref: SCTID:718849008 {source="MONDO:equivalentTo"} xref: UMLS:CN206185 {source="MONDO:equivalentTo"} is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:85334"} ! inherited neurodegenerative disorder property_value: exactMatch http://identifiers.org/snomedct/718849008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206185 property_value: exactMatch Orphanet:85334 property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:85334"} [Term] id: MONDO:0019428 name: fried syndrome def: "A rare X-linked syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies." [Orphanet:85335] subset: ordo_malformation_syndrome {source="Orphanet:85335"} xref: Orphanet:85335 {source="MONDO:equivalentTo"} xref: SCTID:718848000 {source="MONDO:equivalentTo"} xref: UMLS:C4305134 {source="MONDO:equivalentTo"} xref: UMLS:CN206186 {source="MONDO:equivalentTo"} is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch http://identifiers.org/snomedct/718848000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305134 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206186 property_value: exactMatch Orphanet:85335 property_value: excluded_subClassOf MONDO:0015159 {source="Orphanet:85335"} property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:85335"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0019429 name: X-linked neurodegenerative syndrome, Hamel type def: "An X-linked neurodegenerative disorder characterized by intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. The genetic defect responsible for the disorder is located in the pericentromeric region of the X chromosome, Xp11.3-q12." [Orphanet:85336] subset: ordo_disease {source="Orphanet:85336"} xref: Orphanet:85336 {source="MONDO:equivalentTo"} xref: SCTID:718847005 {source="MONDO:equivalentTo"} xref: UMLS:CN206187 {source="MONDO:equivalentTo"} is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:85336"} ! inherited neurodegenerative disorder property_value: exactMatch http://identifiers.org/snomedct/718847005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206187 property_value: exactMatch Orphanet:85336 property_value: excluded_subClassOf MONDO:0020119 {source="Orphanet:85336"} [Term] id: MONDO:0019430 name: X-linked intellectual disability-ataxia-apraxia syndrome def: "X-linked intellectual disability-ataxia-apraxia syndrome is characterized by ataxia, apraxia, intellectual deficit and/or seizures. It has been described in nine males in two unrelated Danish families. It is transmitted as an X-linked recessive syndrome with partial clinical expression in obligate female carriers." [Orphanet:85338] subset: ordo_disease {source="Orphanet:85338"} xref: Orphanet:85338 {source="MONDO:equivalentTo"} xref: UMLS:CN227633 {source="MONDO:equivalentTo"} is_a: MONDO:0016612 {source="Orphanet:85338"} ! X-linked cerebellar ataxia is_a: MONDO:0020119 {source="Orphanet:85338", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227633 property_value: exactMatch Orphanet:85338 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0019438 name: AL amyloidosis def: "AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ." [Orphanet:85443] subset: gard_rare subset: ordo_disease {source="Orphanet:85443"} synonym: "amyloidosis AL" RELATED [GARD:0005797] synonym: "amyloidosis primary systemic" RELATED [GARD:0005797] synonym: "Light chain amyloidosis" RELATED [GARD:0005797] synonym: "Light-chain amyloidosis" EXACT [Orphanet:85443] synonym: "primary AL amyloidosis" RELATED [GARD:0005797] synonym: "primary amyloidosis" EXACT [Orphanet:85443] synonym: "primary amyloidosis (formerly)" RELATED [GARD:0005797] synonym: "primary systemic AL amyloidosis" RELATED [GARD:0005797] synonym: "primary systemic amyloidosis" RELATED [GARD:0005797] synonym: "systemic AL amyloidsis" RELATED [GARD:0005797] xref: DOID:0080933 {source="MONDO:equivalentTo"} xref: MedDRA:10036673 {source="Orphanet:85443", source="Orphanet:85443/e"} xref: MESH:C531616 {source="Orphanet:85443", source="MONDO:equivalentTo", source="Orphanet:85443/e"} xref: NCIT:C158963 {source="MONDO:equivalentTo"} xref: Orphanet:85443 {source="MONDO:equivalentTo"} xref: UMLS:C0268381 {source="Orphanet:85443", source="MONDO:equivalentTo", source="Orphanet:85443/e"} is_a: EFO:1001473 {source="Orphanet:85443"} ! Non-familial restrictive cardiomyopathy is_a: EFO:1001875 {source="MESH:C531616", source="Orphanet:85443"} ! amyloidosis is_a: MONDO:0016179 {source="Orphanet:85443"} ! acquired amyloid peripheral neuropathy is_a: MONDO:0016330 {source="Orphanet:85443"} ! non-familial hypertrophic cardiomyopathy property_value: closeMatch http://identifiers.org/meddra/10036673 property_value: exactMatch DOID:0080933 property_value: exactMatch http://identifiers.org/mesh/C531616 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268381 property_value: exactMatch NCIT:C158963 property_value: exactMatch Orphanet:85443 property_value: excluded_subClassOf MONDO:0019724 {source="Orphanet:85443"} property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0019439 name: AA amyloidosis def: "Secondary amyloidosis is a form of amyloidosis, that complicates chronic inflammatory disorders (mainly rheumatoid arthritis) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement." [Orphanet:85445] subset: gard_rare {source="GARD:0010560"} subset: ordo_disease {source="Orphanet:85445"} synonym: "amyloid A amyloidosis" RELATED [GARD:0010560] synonym: "amyloidosis AA" RELATED [GARD:0010560] synonym: "inflammatory amyloidosis" EXACT [Orphanet:85445] synonym: "reactive amyloidosis" EXACT [Orphanet:85445] synonym: "secondary amyloidosis" EXACT [Orphanet:85445] xref: DOID:0080936 {source="MONDO:equivalentTo"} xref: ICD9:277.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10039811 {source="Orphanet:85445", source="Orphanet:85445/e"} xref: NCIT:C3818 {source="MONDO:equivalentTo"} xref: Orphanet:85445 {source="MONDO:equivalentTo"} xref: SCTID:281034005 {source="MONDO:equivalentTo"} xref: UMLS:C0221014 {source="NCIT:C3818", source="Orphanet:85445", source="MONDO:equivalentTo", source="Orphanet:85445/e"} xref: UMLS:C3536715 {source="MONDO:equivalentTo"} is_a: EFO:1001473 {source="Orphanet:85445"} ! Non-familial restrictive cardiomyopathy is_a: EFO:1001875 {source="NCIT:C3818", source="Orphanet:85445"} ! amyloidosis is_a: MONDO:0016179 {source="Orphanet:85445"} ! acquired amyloid peripheral neuropathy property_value: closeMatch http://identifiers.org/meddra/10039811 property_value: exactMatch DOID:0080936 property_value: exactMatch http://identifiers.org/snomedct/281034005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221014 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3536715 property_value: exactMatch NCIT:C3818 property_value: exactMatch Orphanet:85445 property_value: excluded_subClassOf MONDO:0019724 {source="Orphanet:85445"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10560/amyloidosis-aa xsd:anyURI {source="GARD:0010560"} [Term] id: MONDO:0019441 name: ATTRV122I amyloidosis def: "Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein." [Orphanet:85451] subset: ordo_disease {source="Orphanet:85451"} synonym: "ATTR cardiomyopathy" EXACT [Orphanet:85451] synonym: "ATTRV122I-related amyloidosis" EXACT [Orphanet:85451] synonym: "transthyretin amyloid cardiopathy" EXACT [Orphanet:85451] synonym: "transthyretin-related familial amyloid cardiomyopathy" EXACT [Orphanet:85451] synonym: "TTR-related amyloid cardiomyopathy" EXACT [Orphanet:85451] synonym: "TTR-related cardiac amyloidosis" EXACT [Orphanet:85451] xref: ICD10EXP:E85.4+ {source="Orphanet:85451/ntbt", source="Orphanet:85451/inclusion", source="Orphanet:85451"} xref: ICD10EXP:I43.1* {source="Orphanet:85451/ntbt", source="Orphanet:85451/inclusion", source="Orphanet:85451"} xref: Orphanet:85451 {source="MONDO:equivalentTo"} xref: SCTID:715655000 {source="MONDO:equivalentTo"} is_a: EFO:0004129 ! familial amyloid neuropathy is_a: MONDO:0016340 {source="Orphanet:85451"} ! familial restrictive cardiomyopathy property_value: exactMatch http://identifiers.org/snomedct/715655000 property_value: exactMatch Orphanet:85451 [Term] id: MONDO:0019443 name: dextro-looped transposition of the great arteries def: "Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance." [Orphanet:860] subset: ordo_morphological_anomaly {source="Orphanet:860"} synonym: "congenitally uncorrected transposition of the great arteries" EXACT [DOID:0060770] synonym: "congenitally uncorrected transposition of the great vessels" EXACT [DOID:0060770, Orphanet:860] synonym: "D-TGA" EXACT [DOID:0060770] synonym: "DTGA" EXACT ABBREVIATION [MONDO:Lexical] synonym: "isolated ventriculoarterial discordance" EXACT [DOID:0060770, Orphanet:860] synonym: "ventriculoarterial discordance with atrioventricular concordance" EXACT [DOID:0060770, Orphanet:860] xref: DOID:0060770 {source="MONDO:equivalentTo"} xref: OMIMPS:608808 {source="DOID:0060770", source="MONDO:equivalentObsolete"} xref: Orphanet:860 {source="DOID:0060770", source="MONDO:equivalentTo"} is_a: EFO:0005207 {source="DOID:0060770"} ! congenital heart disease is_a: MONDO:0000153 {source="MONDO:Redundant", source="Orphanet:860"} ! transposition of the great arteries is_a: MONDO:0017131 {source="Orphanet:860"} ! hereditary cardiac anomaly property_value: exactMatch DOID:0060770 property_value: exactMatch Orphanet:860 [Term] id: MONDO:0019448 name: benign adult familial myoclonic epilepsy def: "Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia." [Orphanet:86814] subset: ordo_disease {source="Orphanet:86814"} synonym: "ADCME" EXACT ABBREVIATION [Orphanet:86814] synonym: "autosomal dominant cortical myoclonus and epilepsy" EXACT [Orphanet:86814] synonym: "BAFME" EXACT ABBREVIATION [Orphanet:86814] synonym: "benign adult familial myoclonus epilepsy" EXACT [Orphanet:86814] synonym: "FAME" EXACT ABBREVIATION [Orphanet:86814] synonym: "familial adult myoclonic epilepsy" EXACT [Orphanet:86814] synonym: "familial cortical myoclonic tremor and epilepsy" EXACT [Orphanet:86814] synonym: "FCMTE" EXACT ABBREVIATION [Orphanet:86814] xref: Orphanet:86814 {source="MONDO:equivalentTo"} xref: SCTID:717225001 {source="MONDO:equivalentTo"} xref: UMLS:C4273988 {source="MONDO:equivalentTo"} xref: UMLS:CN206220 {source="MONDO:equivalentTo"} is_a: MONDO:0000160 {source="https://github.com/monarch-initiative/mondo/issues/2786", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy, familial adult myoclonic is_a: MONDO:0017651 {source="Orphanet:86814"} ! primary myoclonus is_a: MONDO:0020073 {source="DOID:0111689", source="Orphanet:86814"} ! adolescent-onset epilepsy syndrome property_value: exactMatch http://identifiers.org/snomedct/717225001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4273988 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206220 property_value: exactMatch Orphanet:86814 [Term] id: MONDO:0019449 name: lissencephaly type 3-familial fetal akinesia sequence syndrome def: "Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterized by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and fetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia." [Orphanet:86821] subset: ordo_malformation_syndrome {source="Orphanet:86821"} xref: Orphanet:86821 {source="MONDO:equivalentTo"} xref: SCTID:718719001 {source="MONDO:equivalentTo"} xref: UMLS:CN227635 {source="MONDO:equivalentTo"} is_a: MONDO:0015148 {source="Orphanet:86821"} ! lissencephaly type 3 property_value: exactMatch http://identifiers.org/snomedct/718719001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227635 property_value: exactMatch Orphanet:86821 [Term] id: MONDO:0019450 name: lissencephaly with cerebellar hypoplasia def: "Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F." [Orphanet:86823] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:86823"} synonym: "LCH" EXACT ABBREVIATION [Orphanet:86823] xref: Orphanet:86823 {source="MONDO:equivalentTo"} xref: SCTID:715817007 {source="MONDO:equivalentTo"} xref: UMLS:C4274995 {source="MONDO:equivalentTo"} is_a: MONDO:0018838 {source="Orphanet:86823"} ! lissencephaly spectrum disorders property_value: exactMatch http://identifiers.org/snomedct/715817007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274995 property_value: exactMatch Orphanet:86823 [Term] id: MONDO:0019452 name: myeloproliferative neoplasm, unclassifiable def: "This subgroup of myeloproliferative neoplasms includes cases which do not meet the morphologic criteria of any of the defined myeloproliferative neoplasms, or which have characteristics that overlap at least two of the myeloproliferative neoplasms." [NCIT:C27350] subset: ordo_disease {source="Orphanet:86830"} synonym: "chronic myeloproliferative disease, unclassifiable" EXACT [NCIT:C27350] synonym: "chronic myeloproliferative disorder, unclassifiable" EXACT [NCIT:C27350] synonym: "CMPD, U" EXACT [NCIT:C27350] synonym: "CMPD-U" EXACT [NCIT:C27350, Orphanet:86830] synonym: "MPN, U" EXACT [NCIT:C27350] synonym: "MPN-U" EXACT [NCIT:C27350] synonym: "myeloproliferative neoplasm, unclassifiable" EXACT [NCIT:C27350] synonym: "unclassifiable chronic myeloproliferative disease" EXACT [NCIT:C27350] synonym: "unclassifiable chronic myeloproliferative disorder" EXACT [NCIT:C27350] synonym: "undifferentiated myeloproliferative disease" EXACT [Orphanet:86830] xref: ICDO:9975/3 {source="NCIT:C27350"} xref: NCIT:C27350 {source="MONDO:equivalentTo"} xref: Orphanet:86830 {source="MONDO:equivalentTo"} xref: UMLS:C1333046 {source="MONDO:equivalentTo", source="NCIT:C27350"} is_a: EFO:0002428 {source="NCIT:C27350", source="Orphanet:86830"} ! chronic myeloproliferative disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333046 property_value: exactMatch NCIT:C27350 property_value: exactMatch Orphanet:86830 [Term] id: MONDO:0019453 name: myelodysplastic syndrome with multilineage dysplasia def: "Refractory cytopenias with multilineage dysplasia (RCMD) is a frequent subtype of myelodysplastic syndrome (MDS) characterized by 1 or more cytopenias in the peripheral blood and dysplasia in 2 or more myeloid lineages." [Orphanet:86836] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:86836"} synonym: "MDS-MLD" EXACT [NCIT:C8574] synonym: "RCMD" EXACT ABBREVIATION [NCIT:C8574] synonym: "refractory cytopenia with multilineage dysplasia" EXACT [NCIT:C8574] xref: ICD10CM:D46.A {source="MONDO:equivalentTo"} xref: ICD9:238.72 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9985/3 {source="NCIT:C8574"} xref: MedDRA:10067959 {source="Orphanet:86836", source="Orphanet:86836/e"} xref: NCIT:C8574 {source="MONDO:equivalentTo"} xref: Orphanet:86836 {source="MONDO:equivalentTo"} xref: SCTID:415285009 {source="MONDO:equivalentTo"} xref: UMLS:C0796466 {source="NCIT:C8574", source="MONDO:equivalentTo", source="Orphanet:86836", source="Orphanet:86836/e"} is_a: EFO:0000198 {source="NCIT:C8574", source="Orphanet:86836"} ! myelodysplastic syndrome is_a: MONDO:0004111 ! refractory hematologic cancer property_value: closeMatch http://identifiers.org/meddra/10067959 property_value: exactMatch http://identifiers.org/snomedct/415285009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796466 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D46.A property_value: exactMatch NCIT:C8574 property_value: exactMatch Orphanet:86836 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5268 xsd:anyURI [Term] id: MONDO:0019455 name: acute panmyelosis with myelofibrosis def: "An acute myeloid leukemia characterized by bone marrow fibrosis without preexisting primary myelofibrosis." [NCIT:P378] subset: gard_rare {source="GARD:0011907"} subset: ordo_disease {source="Orphanet:86843"} synonym: "acute (malignant) myelofibrosis" EXACT [NCIT:C4344] synonym: "acute (malignant) myelosclerosis" EXACT [NCIT:C4344] synonym: "acute myelodysplasia with myelofibrosis" EXACT [Orphanet:86843] synonym: "acute myelofibrosis" EXACT [Orphanet:86843] synonym: "acute myelosclerosis" EXACT [Orphanet:86843] synonym: "acute panmyelosis" EXACT [NCIT:C4344] synonym: "APMF" EXACT ABBREVIATION [NCIT:C4344, ONCOTREE:APMF] xref: ICD9:289.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9931/3 {source="NCIT:C4344"} xref: MedDRA:10000879 {source="Orphanet:86843", source="Orphanet:86843/e"} xref: NCIT:C4344 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:APMF {source="MONDO:equivalentTo"} xref: Orphanet:86843 {source="MONDO:equivalentTo"} xref: SCTID:109991003 {source="MONDO:equivalentTo"} xref: UMLS:C0334674 {source="Orphanet:86843", source="MONDO:equivalentTo", source="NCIT:C4344", source="Orphanet:86843/e"} is_a: MONDO:0015667 {source="Orphanet:86843"} ! acute myeloid leukemia by FAB classification property_value: closeMatch http://identifiers.org/meddra/10000879 property_value: exactMatch http://identifiers.org/snomedct/109991003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334674 property_value: exactMatch NCIT:C4344 property_value: exactMatch Orphanet:86843 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11907/acute-panmyelosis-with-myelofibrosis xsd:anyURI {source="GARD:0011907"} [Term] id: MONDO:0019457 name: therapy related acute myeloid leukemia and myelodysplastic syndrome def: "An acute myeloid leukemia secondary to a myelodysplastic syndrome or therapy-related. (WHO, 2001)" [NCIT:C25765] subset: disease_grouping subset: gard_rare {source="GARD:0012762"} subset: ordo_group_of_disorders {source="Orphanet:86846"} synonym: "Secondary Acute granulocytic Leukaemia" EXACT OMO:0003005 [] synonym: "Secondary Acute granulocytic Leukemia" EXACT [NCIT:C25765] synonym: "Secondary Acute myeloblastic Leukaemia" EXACT OMO:0003005 [] synonym: "Secondary Acute myeloblastic Leukemia" EXACT [NCIT:C25765] synonym: "Secondary Acute myelocytic Leukaemia" EXACT OMO:0003005 [] synonym: "Secondary Acute myelocytic Leukemia" EXACT [NCIT:C25765] synonym: "Secondary Acute myelogenous Leukaemia" EXACT OMO:0003005 [] synonym: "Secondary Acute myelogenous Leukemia" EXACT [NCIT:C25765] synonym: "secondary acute myeloid leukaemia" EXACT OMO:0003005 [] synonym: "Secondary Acute myeloid Leukaemia (AML)" EXACT OMO:0003005 [] synonym: "secondary acute myeloid leukemia" EXACT [Orphanet:86846] synonym: "Secondary Acute myeloid Leukemia (AML)" EXACT [NCIT:C25765] synonym: "Secondary AGL" EXACT [NCIT:C25765] synonym: "secondary AML" EXACT [Orphanet:86846] synonym: "therapy-related AML and myelodysplastic syndrome" EXACT [Orphanet:86846] xref: NCIT:C25765 {source="MONDO:equivalentTo"} xref: Orphanet:86846 {source="MONDO:equivalentTo"} xref: SCTID:721306009 {source="MONDO:equivalentTo"} is_a: EFO:0000222 {source="NCIT:C25765", source="Orphanet:86846"} ! acute myeloid leukemia property_value: exactMatch http://identifiers.org/snomedct/721306009 property_value: exactMatch NCIT:C25765 property_value: exactMatch Orphanet:86846 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12762/therapy-related-acute-myeloid-leukemia-and-myelodysplastic-syndrome xsd:anyURI {source="GARD:0012762"} [Term] id: MONDO:0019460 name: acute leukemia of ambiguous lineage def: "An acute leukemia in which the blasts lack sufficient evidence to classify as myeloid or lymphoid or they have morphologic and/or immunophenotypic characteristics of both myeloid and lymphoid cells. (WHO, 2001)" [NCIT:C7464] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:86851"} synonym: "acute leukaemia of indeterminate lineage" EXACT OMO:0003005 [] synonym: "acute leukaemia of undetermined lineage" RELATED OMO:0003005 [] synonym: "acute leukemia of ambiguous lineage" EXACT [NCIT:C7464] synonym: "acute leukemia of indeterminate lineage" EXACT [NCIT:C7464, Orphanet:86851] synonym: "acute leukemia of undetermined lineage" RELATED [GARD:0008638] synonym: "ALL with myeloid markers" RELATED [GARD:0008638] synonym: "AML with lymphoid markers" RELATED [GARD:0008638] synonym: "BAL" RELATED ABBREVIATION [GARD:0008638] synonym: "biphenotypic acute leukaemia" RELATED OMO:0003005 [] synonym: "biphenotypic acute leukemia" RELATED [GARD:0008638] synonym: "hybrid acute leukaemia" EXACT OMO:0003005 [] synonym: "hybrid acute leukemia" EXACT [Orphanet:86851] synonym: "mixed lineage acute leukaemia" EXACT OMO:0003005 [] synonym: "mixed lineage acute leukemia" EXACT [Orphanet:86851] synonym: "mixed phenotype acute leukaemia" RELATED OMO:0003005 [] synonym: "mixed phenotype acute leukemia" RELATED [Orphanet:86851] xref: MedDRA:10067399 {source="Orphanet:86851", source="Orphanet:86851/e"} xref: NCIT:C7464 {source="MONDO:equivalentTo", source="MONDO:0021040"} xref: Orphanet:86851 {source="MONDO:equivalentTo"} xref: SCTID:721308005 {source="MONDO:equivalentTo"} xref: UMLS:C1301357 {source="NCIT:C7464", source="Orphanet:86851", source="MONDO:equivalentTo", source="Orphanet:86851/e"} is_a: EFO:0000222 {source="Orphanet:86851"} ! acute myeloid leukemia property_value: closeMatch http://identifiers.org/meddra/10067399 property_value: exactMatch http://identifiers.org/snomedct/721308005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1301357 property_value: exactMatch NCIT:C7464 property_value: exactMatch Orphanet:86851 [Term] id: MONDO:0019465 name: nodal marginal zone B-cell lymphoma def: "Nodal marginal zone B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma, characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement of the lymph nodes, sometimes the bone marrow, and rarely the blood. Clinically it presents with disseminated peripheral, abdominal and/or thoracic lymphadenopathy. Cytopenia and bulky tumors (greater than 5 cm) are rare. Association with Hepatitis C virus and chronic inflammation has been reported." [Orphanet:86867] subset: ordo_disease {source="Orphanet:86867"} synonym: "Monocytoid B-cell lymphoma" EXACT [NCIT:C8863] synonym: "NMZL" EXACT ABBREVIATION [ONCOTREE:NMZL, Orphanet:86867] synonym: "nodal marginal zone B-cell lymph." EXACT [NCIT:C8863] synonym: "nodal marginal zone B-cell lymphoma" EXACT [NCIT:C8863] synonym: "nodal marginal zone lymphoma" EXACT [NCIT:C8863] xref: DOID:0080211 {source="MONDO:equivalentTo"} xref: MedDRA:10029460 {source="Orphanet:86867", source="Orphanet:86867/e"} xref: NCIT:C8863 {source="DOID:0080211", source="MONDO:equivalentTo"} xref: ONCOTREE:NMZL {source="MONDO:equivalentTo"} xref: Orphanet:86867 {source="MONDO:equivalentTo"} xref: SCTID:277623009 {source="MONDO:equivalentTo"} xref: UMLS:C0855139 {source="NCIT:C8863", source="MONDO:equivalentTo"} is_a: EFO:1000630 {source="DOID:0080211", source="NCIT:C8863", source="ONCOTREE:NMZL", source="Orphanet:86867"} ! marginal zone B-cell lymphoma property_value: closeMatch http://identifiers.org/meddra/10029460 property_value: exactMatch DOID:0080211 property_value: exactMatch http://identifiers.org/snomedct/277623009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0855139 property_value: exactMatch NCIT:C8863 property_value: exactMatch Orphanet:86867 [Term] id: MONDO:0019469 name: T-cell large granular lymphocyte leukemia def: "T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage." [Orphanet:86872] subset: ordo_disease {source="Orphanet:86872"} synonym: "large cell granular lymphogenous leukaemia" EXACT OMO:0003005 [] synonym: "large cell granular lymphogenous leukemia" EXACT [NCIT:C4664] synonym: "large cell granular lymphoid leukaemia" EXACT OMO:0003005 [] synonym: "large cell granular lymphoid leukemia" EXACT [NCIT:C4664] synonym: "large granular lymphocyte leukaemia" RELATED OMO:0003005 [] synonym: "large granular lymphocyte leukemia" RELATED [GARD:0009812] synonym: "large granular lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "large granular lymphocytic leukemia" EXACT [DOID:0050751, NCIT:C4664] synonym: "large granular lymphocytosis" EXACT [NCIT:C4664] synonym: "leukemia, large granular LYMPHOCYTIC, malignant" EXACT [NCIT:C4664] synonym: "LGL leukaemia" RELATED OMO:0003005 [] synonym: "LGL leukemia" RELATED [GARD:0009812] synonym: "LGLL" EXACT ABBREVIATION [NCIT:C4664] synonym: "proliferation of large granular lymphocytes" EXACT [Orphanet:86872] synonym: "T gamma lymphoproliferative disorder" EXACT [NCIT:C4664] synonym: "T-cell large gran. lymph. leuk." EXACT [NCIT:C4664] synonym: "T-cell large granular lymphocyte leukemia" EXACT [NCIT:C4664] synonym: "T-cell large granular lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "T-cell large granular lymphocytic leukemia" EXACT [NCIT:C4664] synonym: "T-cell LGL leukaemia" EXACT OMO:0003005 [] synonym: "T-cell LGL leukemia" EXACT [Orphanet:86872] synonym: "T-gamma lymphoproliferative disorder" EXACT [NCIT:C4664] synonym: "T-LGL" EXACT [Orphanet:86872] synonym: "T-LGL leukaemia" EXACT OMO:0003005 [] synonym: "T-LGL leukemia" EXACT [NCIT:C4664] synonym: "Tgamma large granular lymphocyte leukaemia" EXACT OMO:0003005 [] synonym: "Tgamma large granular lymphocyte leukemia" EXACT [NCIT:C4664] synonym: "TLGL" RELATED ABBREVIATION [ONCOTREE:TLGL] xref: DOID:0050751 {source="MONDO:equivalentTo"} xref: ICD9:204.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9768/1 {source="NCIT:C4664"} xref: ICDO:9831/1 {source="NCIT:C4664"} xref: ICDO:9831/3 {source="NCIT:C4664"} xref: MedDRA:10065862 {source="Orphanet:86872", source="Orphanet:86872/e"} xref: NCIT:C4664 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:TLGL {source="MONDO:equivalentTo"} xref: Orphanet:86872 {source="MONDO:equivalentTo"} xref: SCTID:277569004 {source="MONDO:equivalentTo"} xref: UMLS:C1522378 {source="MONDO:equivalentTo"} xref: UMLS:C1955861 {source="Orphanet:86872", source="MONDO:equivalentTo", source="Orphanet:86872/e", source="NCIT:C4664"} is_a: EFO:0004289 {source="MONDO:Redundant", source="NCIT:C4664"} ! lymphoid leukemia is_a: MONDO:0000430 ! mature T-cell and NK-cell non-Hodgkin lymphoma is_a: MONDO:0001014 {source="MONDO:Redundant", source="NCIT:C4664"} ! chronic leukemia is_a: MONDO:0015822 {source="Orphanet:86872"} ! acquired neutropenia property_value: closeMatch http://identifiers.org/meddra/10065862 property_value: exactMatch DOID:0050751 property_value: exactMatch http://identifiers.org/snomedct/277569004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1522378 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1955861 property_value: exactMatch NCIT:C4664 property_value: exactMatch Orphanet:86872 property_value: excluded_subClassOf MONDO:0004948 {source="DOID:0050751"} [Term] id: MONDO:0019470 name: aggressive NK-cell leukemia def: "A rare, highly aggressive, Epstein-Barr virus-associated leukemia, also known as aggressive NK-cell leukemia/lymphoma; it may represent the leukemic counterpart of nasal type extranodal NK/T-cell lymphomas. It affects primarily teenagers and young adults. It is characterized by the systemic proliferation of NK cells in the peripheral blood, bone marrow, liver, and spleen." [NCIT:C8647] subset: gard_rare {source="GARD:0010493"} subset: ordo_disease {source="Orphanet:86873"} synonym: "aggressive natural killer cell leukaemia" RELATED OMO:0003005 [] synonym: "aggressive natural killer cell leukemia" RELATED [GARD:0010493] synonym: "aggressive NK cell leukaemia" RELATED OMO:0003005 [] synonym: "aggressive NK cell leukemia" RELATED [GARD:0010493] synonym: "aggressive NK-cell leukaemia (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "aggressive NK-cell leukemia" EXACT [NCIT:C8647] synonym: "aggressive NK-cell leukemia (morphologic abnormality)" EXACT [DOID:1035] synonym: "aggressive NK-cell leukemia/lymphoma" EXACT [NCIT:C8647] synonym: "aggressive NK-cell lymphoma" EXACT [Orphanet:86873] synonym: "ANKCL" EXACT ABBREVIATION [Orphanet:86873] synonym: "ANKL" RELATED ABBREVIATION [GARD:0010493, ONCOTREE:ANKL] synonym: "large granular lymphocyte leukemia, NK-cell type" EXACT [DOID:1035, NCIT:C8647] synonym: "leukaemia (disease) of natural killer cell" EXACT OMO:0003005 [] synonym: "leukemia (disease) of natural killer cell" EXACT [] synonym: "natural Killer cell leukaemia" EXACT OMO:0003005 [] synonym: "natural killer cell leukaemia" EXACT OMO:0003005 [] synonym: "natural killer cell leukaemia (disease)" EXACT OMO:0003005 [] synonym: "natural Killer cell leukemia" EXACT [NCIT:C8647] synonym: "natural killer cell leukemia" EXACT [MONDO:0001010] synonym: "natural killer cell leukemia (disease)" EXACT [MONDO:patterns/location] synonym: "NK cell leukaemia" EXACT OMO:0003005 [] synonym: "NK cell leukemia" EXACT [NCIT:C8647] synonym: "NK-cell large granular lymphocyte leukaemia" EXACT OMO:0003005 [] synonym: "NK-cell large granular lymphocyte leukemia" EXACT [Orphanet:86873] synonym: "NK-cell leukaemia" EXACT OMO:0003005 [] synonym: "NK-cell leukemia" EXACT [NCIT:C8647] synonym: "NK-cell LGL leukaemia" EXACT OMO:0003005 [] synonym: "NK-cell LGL leukemia" EXACT [Orphanet:86873] xref: DOID:1035 {source="MONDO:equivalentTo"} xref: ICDO:9948/3 {source="NCIT:C8647"} xref: MedDRA:10028811 {source="Orphanet:86873", source="Orphanet:86873/e"} xref: NCIT:C8647 {source="DOID:1035", source="MONDO:equivalentTo"} xref: ONCOTREE:ANKL {source="MONDO:equivalentTo"} xref: Orphanet:86873 {source="MONDO:equivalentTo"} xref: SCTID:721310007 {source="MONDO:equivalentTo"} xref: UMLS:C1292777 {source="Orphanet:86873", source="DOID:1035", source="MONDO:equivalentTo", source="NCIT:C8647", source="Orphanet:86873/e"} xref: UMLS:C1522378 {source="Orphanet:86873", source="MONDO:directSiblingOf"} is_a: EFO:0000209 ! T-cell acute lymphoblastic leukemia is_a: MONDO:0000430 ! mature T-cell and NK-cell non-Hodgkin lymphoma is_a: MONDO:0001014 {source="NCIT:C8647"} ! chronic leukemia is_a: MONDO:0003537 ! precursor T-lymphoblastic lymphoma/leukemia is_a: MONDO:0004805 {source="DOID:1035", source="MONDO:Entailed", source="MONDO:Redundant"} ! leukocyte disorder property_value: closeMatch http://identifiers.org/meddra/10028811 property_value: exactMatch DOID:1035 property_value: exactMatch http://identifiers.org/snomedct/721310007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1292777 property_value: exactMatch NCIT:C8647 property_value: exactMatch Orphanet:86873 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10493/aggressive-nk-cell-leukemia xsd:anyURI {source="GARD:0010493"} [Term] id: MONDO:0019471 name: adult T-cell leukemia/lymphoma def: "A peripheral (mature) T-cell neoplasm linked to the human T-cell leukemia virus type 1 (HTLV-1), adult T-cell leukemia/lymphoma is endemic in several regions of the world, in particular Japan, the Caribbean, and parts of Central Africa." [NCIT:C3184] subset: ordo_disease {source="Orphanet:86875"} synonym: "adult T cell lymphoma/leukemia" RELATED [NCIT:C3184] synonym: "adult T-cell leukaemia" EXACT OMO:0003005 [] synonym: "adult T-cell leukemia" EXACT [DOID:0050523, GARD:0013103] synonym: "adult T-cell leukemia/lymphoma" EXACT [DOID:0050523, MONDO:0000347, NCIT:C3184] synonym: "adult T-cell leukemia/lymphoma (HTLV-1 positive)" RELATED [GARD:0013103] synonym: "adult T-cell lymphoma" RELATED [GARD:0013103] synonym: "adult T-cell lymphoma/leukemia" RELATED [NCIT:C3184] synonym: "ATLL" EXACT ABBREVIATION [Orphanet:86875] synonym: "HTLV-1 associated adult T-cell lymphoma/leukemia" RELATED [NCIT:C3184] synonym: "HTLV-I associated adult T-cell leukemia/lymphoma" RELATED [NCIT:C3184] synonym: "T-cell leukaemia of adults" EXACT OMO:0003005 [] synonym: "T-cell leukemia of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: DOID:0050523 {source="MONDO:equivalentTo"} xref: ICD9:204.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9827/3 {source="NCIT:C3184"} xref: MedDRA:10001413 {source="Orphanet:86875", source="Orphanet:86875/e"} xref: NCIT:C3184 {source="MONDO:equivalentTo", source="DOID:0050523"} xref: ONCOTREE:ATLL {source="MONDO:equivalentTo"} xref: Orphanet:86875 {source="MONDO:equivalentTo"} xref: SCTID:110007008 {source="MONDO:equivalentTo", source="DOID:0050523"} xref: UMLS:C0023493 {source="NCIT:C3184", source="Orphanet:86875", source="MONDO:equivalentTo", source="DOID:0050523", source="Orphanet:86875/e"} is_a: EFO:0005592 {source="DOID:0050523", source="MONDO:Redundant"} ! T-cell leukemia is_a: EFO:0007316 ! Human T-lymphotropic virus 1 infectious disease is_a: EFO:1001303 ! Deltaretrovirus Infections is_a: MONDO:0000621 ! immune system cancer is_a: MONDO:0003660 ! adult lymphoma is_a: MONDO:0015817 {source="Orphanet:86875"} ! aggressive primary cutaneous T-cell lymphoma is_a: MONDO:0017341 {source="Orphanet:86875"} ! virus associated tumor is_a: MONDO:0024294 ! skin disorder caused by infection property_value: closeMatch http://identifiers.org/meddra/10001413 property_value: exactMatch DOID:0050523 property_value: exactMatch http://identifiers.org/snomedct/110007008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023493 property_value: exactMatch NCIT:C3184 property_value: exactMatch Orphanet:86875 [Term] id: MONDO:0019472 name: extranodal nasal NK/T cell lymphoma def: "Extranodal nasal NK/T cell lymphoma (NKTCL) is a rare, malignant neoplasm mainly affecting men in the fifth decade of life, that usually arises in the nose, paranasal sinuses, orbits or upper airway, and that can present with a nasal mass, nasal bleeding, nasal obstruction, palate perforation (i.e. midline perforation of the hard palate), and mid-facial and/or upper airway destructive lesions. In advanced disease stages, which are associated with a poor prognosis, NKTCL may disseminate to other organs. A few cases of NKTCL presenting primarily in the lymph nodes have also been described." [Orphanet:86879] subset: ordo_disease {source="Orphanet:86879"} synonym: "angiocentric T-cell lymphoma" EXACT [Orphanet:86879] synonym: "Extranodal NK/T lymphoma-nasal" EXACT [NCIT:C4684] synonym: "Extranodal NK/T-cell lymphoma, nasal type" EXACT [NCIT:C4684] synonym: "lethal midline granuloma" EXACT [Orphanet:86879] synonym: "nasal T/natural killer-cell lymphoma" EXACT [Orphanet:86879] synonym: "nasal type Extranodal NK/T-cell lymphoma" EXACT [NCIT:C4684] synonym: "NK/T-cell lymphoma" EXACT [Orphanet:86879] synonym: "NKTCL" EXACT ABBREVIATION [Orphanet:86879] synonym: "reticulosis, malignant" EXACT [NCIT:C4684] xref: DOID:0080797 {source="MONDO:equivalentTo"} xref: ICDO:9719/3 {source="NCIT:C4684"} xref: MedDRA:10065855 {source="Orphanet:86879", source="Orphanet:86879/e"} xref: NCIT:C4684 {source="MONDO:equivalentTo"} xref: Orphanet:86879 {source="MONDO:equivalentTo"} xref: UMLS:C0392788 {source="MONDO:equivalentTo", source="NCIT:C4684", source="Orphanet:86879", source="Orphanet:86879/e"} is_a: MONDO:0015817 {source="Orphanet:86879"} ! aggressive primary cutaneous T-cell lymphoma is_a: MONDO:0017343 {source="Orphanet:86879"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder property_value: closeMatch http://identifiers.org/meddra/10065855 property_value: exactMatch DOID:0080797 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0392788 property_value: exactMatch NCIT:C4684 property_value: exactMatch Orphanet:86879 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0019473 name: enteropathy-associated T-cell lymphoma def: "An uncommon mature T-cell lymphoma of intraepithelial lymphocytes. It usually arises from the small intestine, most commonly the jejunum or ileum. Other less frequent primary anatomic sites include the duodenum, stomach, colon, or outside the gastrointestinal tract. It is seen with increased frequency in regions with a high prevalence of celiac disease." [NCIT:C4737] comment: Editor note: consider moving ORDO class to SI subclass subset: gard_rare {source="GARD:0009809"} subset: ordo_disease {source="Orphanet:86880"} synonym: "EATCL" RELATED ABBREVIATION [GARD:0009809] synonym: "EATL" EXACT ABBREVIATION [ONCOTREE:EATL, Orphanet:86880] synonym: "EATL, type I" EXACT [NCIT:C4737] synonym: "enteropathy associated T-cell lymphoma" EXACT [NCIT:C4737] synonym: "enteropathy-associated T-cell lymphoma, type I" EXACT [NCIT:C4737] synonym: "enteropathy-type T-cell lymphoma" EXACT [Orphanet:86880] synonym: "ETTL" EXACT ABBREVIATION [Orphanet:86880] synonym: "high-grade pleomorphic peripheral T-cell lymphoma" RELATED [GARD:0009809] synonym: "intestinal T-cell lymphoma" EXACT [Orphanet:86880] xref: ICD9:202.70 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9717/3 {source="NCIT:C4737"} xref: MedDRA:10022703 {source="Orphanet:86880/e", source="Orphanet:86880"} xref: MESH:D058527 {source="Orphanet:86880/e", source="MONDO:equivalentTo", source="Orphanet:86880"} xref: NCIT:C4737 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:EATL {source="MONDO:equivalentTo"} xref: Orphanet:86880 {source="MONDO:equivalentTo"} xref: SCTID:277654008 {source="MONDO:equivalentTo"} xref: UMLS:C0456889 {source="Orphanet:86880/e", source="MONDO:equivalentTo", source="NCIT:C4737", source="Orphanet:86880"} is_a: MONDO:0015760 {source="MESH:D058527", source="NCIT:C4737/inferred", source="Orphanet:86880"} ! T-cell non-Hodgkin lymphoma property_value: closeMatch http://identifiers.org/meddra/10022703 property_value: exactMatch http://identifiers.org/mesh/D058527 property_value: exactMatch http://identifiers.org/snomedct/277654008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0456889 property_value: exactMatch NCIT:C4737 property_value: exactMatch Orphanet:86880 property_value: excluded_subClassOf MONDO:0018505 {source="MONDO:Redundant", source="Orphanet:86880"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9809/enteropathy-associated-t-cell-lymphoma xsd:anyURI {source="GARD:0009809"} [Term] id: MONDO:0019474 name: hepatosplenic T-cell lymphoma def: "An extranodal, mature T-cell non-Hodgkin lymphoma that originates from cytotoxic T-cells, usually of gamma/delta T-cell type. It is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids. A similar infiltrating pattern is also present in the spleen and bone marrow that are usually involved at the time of the diagnosis." [NCIT:P378] subset: ordo_disease {source="Orphanet:86882"} synonym: "Hepatosplenic gamma/Delta T-cell lymphoma" EXACT [NCIT:C8459] synonym: "HSTCL" RELATED ABBREVIATION [ONCOTREE:HSTCL] xref: DOID:0081049 {source="MONDO:equivalentTo"} xref: ICD10CM:C86.1 {source="Orphanet:86882", source="MONDO:equivalentTo", source="Orphanet:86882/e"} xref: ICD9:202.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9716/3 {source="NCIT:C8459"} xref: MedDRA:10066957 {source="Orphanet:86882", source="Orphanet:86882/e"} xref: NCIT:C8459 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:HSTCL {source="MONDO:equivalentTo"} xref: Orphanet:86882 {source="MONDO:equivalentTo"} xref: SCTID:445406001 {source="MONDO:equivalentTo"} xref: UMLS:C1333984 {source="Orphanet:86882", source="MONDO:equivalentTo", source="Orphanet:86882/e"} is_a: MONDO:0015760 {source="NCIT:C8459/inferred", source="Orphanet:86882"} ! T-cell non-Hodgkin lymphoma property_value: closeMatch http://identifiers.org/meddra/10066957 property_value: exactMatch DOID:0081049 property_value: exactMatch http://identifiers.org/snomedct/445406001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333984 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/C86.1 property_value: exactMatch NCIT:C8459 property_value: exactMatch Orphanet:86882 [Term] id: MONDO:0019479 name: histiocytic sarcoma def: "An aggressive malignant neoplasm with a poor response to therapy, usually presenting as stage III/IV disease. It is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes." [NCIT:P378] subset: ordo_disease {source="Orphanet:86896"} synonym: "histiocytic sarcoma" EXACT [NCIT:C27349] synonym: "HS" EXACT [] synonym: "sarcoma, histiocytic, malignant" EXACT [NCIT:C27349] xref: DOID:0080915 {source="MONDO:equivalentTo"} xref: ICD10CM:C96.A {source="MONDO:equivalentTo"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9755/3 {source="NCIT:C27349"} xref: MESH:D054747 {source="Orphanet:86896", source="MONDO:equivalentTo", source="Orphanet:86896/e"} xref: NCIT:C27349 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:HS {source="MONDO:equivalentTo"} xref: Orphanet:86896 {source="MONDO:equivalentTo"} xref: SCTID:109988003 {source="MONDO:equivalentTo"} xref: UMLS:C0334663 {source="Orphanet:86896", source="MONDO:equivalentTo", source="NCIT:C27349", source="Orphanet:86896/e"} is_a: MONDO:0020081 {source="Orphanet:86896"} ! macrophage or histiocytic tumor property_value: exactMatch DOID:0080915 property_value: exactMatch http://identifiers.org/mesh/D054747 property_value: exactMatch http://identifiers.org/snomedct/109988003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334663 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/C96.A property_value: exactMatch NCIT:C27349 property_value: exactMatch Orphanet:86896 [Term] id: MONDO:0019484 name: hypothalamic hamartomas with gelastic seizures def: "A rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty." [Orphanet:86906] subset: ordo_disease {source="Orphanet:86906"} xref: Orphanet:86906 {source="MONDO:equivalentTo"} is_a: MONDO:0016054 {source="Orphanet:86906", source="https://orcid.org/0000-0001-5208-3432"} ! cerebral malformation property_value: exactMatch Orphanet:86906 [Term] id: MONDO:0019486 name: myoclonic epilepsy of infancy comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: obsoletion_candidate subset: ordo_disease {source="Orphanet:86909"} synonym: "benign myoclonic epilepsy of infancy" EXACT [Orphanet:86909] synonym: "benign myoclonus epilepsy of infancy" EXACT [Orphanet:86909] xref: Orphanet:86909 {source="MONDO:equivalentTo"} xref: UMLS:CN206266 {source="MONDO:equivalentTo"} is_a: MONDO:0100207 {source="https://clinicalgenome.org/affiliation/40005/"} ! infantile-onset epilepsy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206266 property_value: exactMatch Orphanet:86909 property_value: excluded_subClassOf MONDO:0100022 {source="Orphanet:86909", source="https://orcid.org/0000-0001-8486-0558"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5740 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0019487 name: epilepsy with myoclonic absences subset: ordo_disease {source="Orphanet:86911"} xref: Orphanet:86911 {source="MONDO:equivalentTo"} xref: SCTID:230422001 {source="MONDO:equivalentTo"} is_a: EFO:0004280 {source="MONDO:0017652-obsoleted"} ! movement disorder is_a: MONDO:0020072 {source="Orphanet:86911", source="https://orcid.org/0000-0001-8486-0558"} ! childhood-onset epilepsy syndrome property_value: exactMatch http://identifiers.org/snomedct/230422001 property_value: exactMatch Orphanet:86911 [Term] id: MONDO:0019488 name: myoclonic epilepsy in non-progressive encephalopathies def: "A rare epilepsy syndrome characterized by recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances." [Orphanet:86913] subset: ordo_malformation_syndrome {source="Orphanet:86913"} synonym: "myoclonic status in non-progressive encephalopathies" EXACT [Orphanet:86913] synonym: "myoclonus epilepsy in non-progressive encephalopathies" EXACT [Orphanet:86913] xref: Orphanet:86913 {source="MONDO:equivalentTo"} is_a: MONDO:0020071 {source="Orphanet:86913"} ! infantile epilepsy syndrome property_value: exactMatch Orphanet:86913 [Term] id: MONDO:0019489 name: diffuse palmoplantar keratoderma - acrocyanosis syndrome def: "Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterized by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant." [Orphanet:86918] subset: ordo_disease {source="Orphanet:86918"} synonym: "diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome" EXACT [Orphanet:86918] xref: Orphanet:86918 {source="MONDO:equivalentTo"} xref: UMLS:CN206272 {source="MONDO:equivalentTo"} is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206272 property_value: exactMatch Orphanet:86918 [Term] id: MONDO:0019490 name: progressive familial heart block def: "A hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death." [Orphanet:871] subset: ordo_disease {source="Orphanet:871"} synonym: "familial Lenegre disease" EXACT [DOID:0111073] synonym: "familial Lenègre disease" EXACT [Orphanet:871] synonym: "familial Lev disease" EXACT [DOID:0111073, Orphanet:871] synonym: "familial Lev-Lenegre disease" EXACT [DOID:0111073] synonym: "familial Lev-Lenègre disease" EXACT [Orphanet:871] synonym: "familial PCCD" EXACT [DOID:0111073, Orphanet:871] synonym: "familial progressive cardiac conduction defect" RELATED [Orphanet:871] synonym: "familial progressive heart block" EXACT [DOID:0111073, Orphanet:871] synonym: "hereditary bundle branch defect" NARROW [DOID:0111073, Orphanet:871] synonym: "PFHB" EXACT ABBREVIATION [DOID:0111073] xref: DOID:0111073 {source="MONDO:equivalentTo"} xref: ICD9:426.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIMPS:113900 {source="MONDO:equivalentTo", source="DOID:0111073"} xref: Orphanet:871 {source="MONDO:equivalentTo", source="DOID:0111073"} xref: SCTID:698249005 {source="MONDO:equivalentTo"} xref: SCTID:93130009 {source="MONDO:equivalentObsolete"} xref: UMLS:CN206278 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0000992 {source="DOID:0111073", source="MONDO:indirect"} ! heart conduction disease property_value: exactMatch DOID:0111073 property_value: exactMatch http://identifiers.org/snomedct/698249005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206278 property_value: exactMatch https://omim.org/phenotypicSeries/PS113900 property_value: exactMatch Orphanet:871 [Term] id: MONDO:0019497 name: nonsyndromic genetic hearing loss def: "A disease characterized by hearing loss that is not part of a larger syndrome." [MONDO:patterns/isolated] subset: disease_grouping subset: gard_rare subset: ordo_group_of_disorders {source="Orphanet:87884"} synonym: "familial deafness" NARROW [GARD:0006410] synonym: "isolated genetic deafness" NARROW [Orphanet:87884] synonym: "non-syndromic genetic deafness" NARROW [Orphanet:87884] synonym: "nonsyndromic deafness" BROAD [DOID:0050563] synonym: "nonsyndromic genetic deafness" NARROW [Orphanet:87884] synonym: "nonsyndromic hearing loss" BROAD [DOID:0050563, MONDO:patterns/isolated] synonym: "nonsyndromic hereditary hearing loss" EXACT [DOID:0050563] xref: DOID:0050563 {source="MONDO:equivalentTo"} xref: EFO:0009076 {source="MONDO:equivalentTo"} xref: MESH:C580334 {source="MONDO:equivalentTo"} xref: Orphanet:87884 {source="MONDO:equivalentTo"} xref: UMLS:CN043648 {source="MONDO:equivalentTo"} is_a: EFO:0004238 {source="EFO:0009076/inferred", source="MESH:C580334/inferred", source="MONDO:Redundant", source="Orphanet:87884"} ! hearing loss is_a: MONDO:0037940 ! inherited auditory system disease intersection_of: EFO:0004238 ! hearing loss intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation intersection_of: has_characteristic MONDO:0021152 ! inherited relationship: has_characteristic MONDO:0021128 ! has an isolated presentation relationship: has_characteristic MONDO:0021136 {source="MONDO:0019047"} ! rare property_value: exactMatch DOID:0050563 property_value: exactMatch http://identifiers.org/mesh/C580334 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN043648 property_value: exactMatch Orphanet:87884 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/551 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6410/familial-deafness xsd:anyURI {source="GARD:0006410"} [Term] id: MONDO:0019499 name: Turner syndrome def: "Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome." [Orphanet:881] subset: gard_rare {source="GARD:0007831"} subset: ordo_malformation_syndrome {source="Orphanet:881"} synonym: "45, X syndrome" RELATED [GARD:0007831] synonym: "45,X gonadal dysgenesis" EXACT [NCIT:C26900] synonym: "45,X syndrome" EXACT [Orphanet:881] synonym: "45,X/46,XX syndrome" EXACT [Orphanet:881] synonym: "45,X0 syndrome" EXACT [NCIT:C26900] synonym: "45X syndrome" EXACT [NCIT:C26900] synonym: "Bonnevie-Ullrich syndrome" RELATED [DOID:3491] synonym: "chromosome X monosomy X" RELATED [GARD:0007831] synonym: "genital dwarfism" RELATED [GARD:0002458] synonym: "genital dwarfism, Turner type" RELATED [GARD:0002459] synonym: "gonadal dysgenesis" BROAD [NCIT:C26900] synonym: "gonadal dysgenesis (45,X)" RELATED [GARD:0007831] synonym: "gonadal dysgenesis - Turner" EXACT [DOID:3491] synonym: "gonadal dysgenesis Turner type" RELATED [GARD:0002540] synonym: "karyotype 45, X" EXACT [DOID:3491] synonym: "monosomy X" NARROW [DOID:3491, NCIT:C36630] synonym: "monosomy X syndrome" EXACT [DOID:3491] synonym: "Schereshevkii Turner syndrome" RELATED [GARD:0007831] synonym: "Turner Varny syndrome" RELATED [GARD:0007831] synonym: "Ullrich-Turner syndrome" RELATED [GARD:0007831] synonym: "XO syndrome" EXACT [DOID:3491] xref: DOID:3491 {source="MONDO:equivalentTo"} xref: ICD9:758.7 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10045181 {source="Orphanet:881/e", source="Orphanet:881"} xref: MESH:D014424 {source="Orphanet:881/e", source="MONDO:equivalentTo", source="Orphanet:881", source="DOID:3491"} xref: NCIT:C26900 {source="MONDO:equivalentTo", source="DOID:3491"} xref: Orphanet:881 {source="MONDO:equivalentTo"} xref: SCTID:38804009 {source="MONDO:equivalentTo", source="DOID:3491"} xref: UMLS:C0041408 {source="Orphanet:881/e", source="MONDO:equivalentTo", source="GARD:0002458", source="NCIT:C26900", source="Orphanet:881", source="DOID:3491"} is_a: MONDO:0001967 {source="DOID:3491", source="MESH:D014424", source="NCIT:C26900"} ! gonadal dysgenesis is_a: MONDO:0015620 {source="Orphanet:881"} ! syndromic urogenital tract malformation is_a: MONDO:0017975 {source="MESH:D014424", source="Orphanet:881"} ! sex chromosome disorder of sex development is_a: MONDO:0019852 {source="Orphanet:881"} ! inherited primary ovarian failure is_a: MONDO:0020165 {source="Orphanet:881"} ! syndromic epicanthus property_value: closeMatch http://identifiers.org/meddra/10045181 property_value: exactMatch DOID:3491 property_value: exactMatch http://identifiers.org/mesh/D014424 property_value: exactMatch http://identifiers.org/snomedct/38804009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041408 property_value: exactMatch NCIT:C26900 property_value: exactMatch Orphanet:881 property_value: excluded_subClassOf MONDO:0020226 {source="Orphanet:881"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2458/genital-dwarfism xsd:anyURI {source="GARD:0002458"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2540/gonadal-dysgenesis-turner-type xsd:anyURI {source="GARD:0002540"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7831/turner-syndrome xsd:anyURI {source="GARD:0007831"} [Term] id: MONDO:0019500 name: extragonadal teratoma def: "Extragonadal teratoma is an extremely rare, benign or malignant germ cell tumor characterized, clinically, by a teratoma presenting in an extragonadal location (e.g. retroperitoneum, mediastinum, craniofacial or sacrococcygeal region, intraosseous, solid organs) and, histologically, by displaying well-differentiated structures, as well as immature elements. Presenting symptoms are variable depending on size and location of tumor." [Orphanet:883] subset: ordo_disease {source="Orphanet:883"} xref: MedDRA:10043276 {source="Orphanet:883/e", source="Orphanet:883"} xref: MESH:D013724 {source="MONDO:relatedTo", source="Orphanet:883/e", source="Orphanet:883"} xref: Orphanet:883 {source="MONDO:equivalentTo"} xref: SCTID:768937006 {source="MONDO:equivalentTo"} is_a: MONDO:0020539 {source="Orphanet:883"} ! extragonadal non-dysgerminomatous germ cell tumor property_value: closeMatch http://identifiers.org/meddra/10043276 property_value: exactMatch http://identifiers.org/snomedct/768937006 property_value: exactMatch Orphanet:883 [Term] id: MONDO:0019501 name: Usher syndrome def: "A syndromic diseae characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss." [Orphanet:886] subset: ordo_disease {source="Orphanet:886"} synonym: "deafness-retinitis pigmentosa syndrome" NARROW [GARD:0007843] synonym: "dystrophia retinae pigmentosa-dysostosis syndrome" RELATED [GARD:0007843] synonym: "Graefe-Usher syndrome" RELATED [GARD:0007843] synonym: "Hallgren syndrome" RELATED [GARD:0007843] synonym: "retinitis pigmentosa-deafness syndrome" NARROW [Orphanet:886] synonym: "ush" EXACT [Orphanet:886] synonym: "Usher's syndrome" EXACT [GARD:0007843] xref: DOID:0050439 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.5 {source="Orphanet:886/attributed", source="Orphanet:886/ntbt", source="MONDO:relatedTo", source="Orphanet:886"} xref: MedDRA:10063396 {source="Orphanet:886", source="Orphanet:886/e"} xref: MESH:D052245 {source="Orphanet:886", source="MONDO:equivalentTo", source="Orphanet:886/e", source="DOID:0050439"} xref: NCIT:C85217 {source="MONDO:equivalentTo", source="DOID:0050439"} xref: OMIMPS:276900 {source="MONDO:equivalentTo", source="DOID:0050439"} xref: Orphanet:886 {source="MONDO:equivalentTo", source="DOID:0050439"} xref: UMLS:C0271097 {source="NCIT:C85217", source="Orphanet:886", source="MONDO:equivalentTo", source="Orphanet:886/e", source="DOID:0050439"} is_a: EFO:1000017 {source="DOID:0050439", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0020240 {source="Orphanet:886"} ! syndromic retinitis pigmentosa property_value: closeMatch http://identifiers.org/meddra/10063396 property_value: exactMatch DOID:0050439 property_value: exactMatch http://identifiers.org/mesh/D052245 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271097 property_value: exactMatch https://omim.org/phenotypicSeries/PS276900 property_value: exactMatch NCIT:C85217 property_value: exactMatch Orphanet:886 [Term] id: MONDO:0019502 name: autosomal recessive non-syndromic intellectual disability def: "Autosomal recessive form of non-syndromic intellectual disability." [MONDO:patterns/autosomal_recessive] comment: Editor note: misclassified in Orphanet: https://github.com/monarch-initiative/monarch-disease-ontology/issues/407 synonym: "AR-NSID" EXACT [Orphanet:88616] synonym: "autosomal recessive intellectual disability" EXACT [DOID:0060308] synonym: "autosomal recessive mental retardation" EXACT DEPRECATED [DOID:0060308] synonym: "autosomal recessive non-syndromic intellectual disability" EXACT [DOID:0060308] synonym: "autosomal recessive non-syndromic mental retardation" EXACT DEPRECATED [DOID:0060308] synonym: "intellectual disability, autosomal recessive" EXACT [OMIMPS:249500] synonym: "mental retardation, autosomal recessive" EXACT DEPRECATED [OMIMPS:249500] synonym: "non-syndromic intellectual disability, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] synonym: "NS-ARID" EXACT [Orphanet:88616] xref: DOID:0060308 {source="MONDO:equivalentTo"} xref: OMIMPS:249500 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:88616 {source="MONDO:equivalentTo", source="DOID:0060308"} xref: UMLS:CN206293 {source="MONDO:equivalentTo"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0000509 {source="MONDO:Redundant", source="Orphanet:88616"} ! non-syndromic intellectual disability is_a: MONDO:0017706 {source="PMID:33340416"} ! disorder of carbohydrate transmembrane transport and absorption relationship: has_characteristic MONDO:0021136 {source="MONDO:0015108"} ! rare property_value: exactMatch DOID:0060308 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206293 property_value: exactMatch https://omim.org/phenotypicSeries/PS249500 property_value: exactMatch Orphanet:88616 property_value: IAO:0000233 https://github.com/monarch-initiative/monarch-disease-ontology/issues/407 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0019503 name: anterior segment dysgenesis def: "A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis)." [https://www.aao.org/bcscsnippetdetail.aspx?id=42ca606e-d460-4bd1-91e7-6b1929600ab0] subset: disease_grouping subset: gard_rare subset: ordo_group_of_disorders {source="Orphanet:88632"} synonym: "anterior segment mesenchymal dysgenesis" EXACT [GARD:0010025] synonym: "anterior segment ocular dysgenesis" EXACT [GARD:0010025] synonym: "ASGD" EXACT ABBREVIATION [MONDO:cjm] synonym: "ASMD" EXACT ABBREVIATION [GARD:0010025] synonym: "ASOD" EXACT ABBREVIATION [GARD:0010025] synonym: "familial ocular anterior segment mesenchymal dysgenesis" EXACT [GARD:0010025] xref: DOID:0060648 {source="MONDO:equivalentTo"} xref: ICD9:743.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIMPS:107250 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:88632 {source="GARD:0010025", source="MONDO:equivalentTo"} xref: SCTID:65075004 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0020145 {source="MONDO:0020149-obsoleted"} ! developmental defect of the eye property_value: exactMatch DOID:0060648 property_value: exactMatch http://identifiers.org/snomedct/65075004 property_value: exactMatch https://omim.org/phenotypicSeries/PS107250 property_value: exactMatch Orphanet:88632 property_value: excluded_subClassOf MONDO:0015217 {source="Orphanet:88632"} [Term] id: MONDO:0019505 name: hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome def: "Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome is characterized by the association of demyelinating leukodystrophy with progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia." [Orphanet:88637] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: obsoletion_candidate subset: ordo_disease {source="Orphanet:88637"} synonym: "4H syndrome" EXACT [Orphanet:88637] xref: Orphanet:88637 {source="MONDO:equivalentTo"} xref: UMLS:CN206304 {source="MONDO:equivalentTo"} is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206304 property_value: exactMatch Orphanet:88637 property_value: excluded_subClassOf MONDO:0011897 {source="Orphanet:88637", source="Orphanet:88637/ntbt"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0019506 name: obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome def: "Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterized by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established." [Orphanet:88643] subset: ordo_disease {source="Orphanet:88643"} xref: Orphanet:88643 {source="MONDO:equivalentTo"} xref: SCTID:722051004 {source="MONDO:equivalentTo"} xref: UMLS:CN227640 {source="MONDO:equivalentTo"} is_a: MONDO:0015778 {source="Orphanet:88643"} ! syndromic hypothyroidism property_value: exactMatch http://identifiers.org/snomedct/722051004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227640 property_value: exactMatch Orphanet:88643 [Term] id: MONDO:0019507 name: amelogenesis imperfecta def: "Amelogenesis imperfecta (AI) represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body." [Orphanet:88661] subset: clingen subset: gard_rare {source="GARD:0005791"} subset: ordo_disease {source="Orphanet:88661"} xref: CSP:0828-0533 {source="DOID:2187"} xref: DOID:2187 {source="MONDO:equivalentTo"} xref: ICD9:520.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D000567 {source="DOID:2187", source="Orphanet:88661/e", source="MONDO:equivalentTo", source="Orphanet:88661"} xref: OMIMPS:104500 {source="DOID:2187", source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:88661 {source="DOID:2187", source="MONDO:equivalentTo"} xref: SCTID:78494001 {source="DOID:2187", source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:1001304 {source="DOID:2187", source="MESH:D000567"} ! Dental enamel hypoplasia property_value: exactMatch DOID:2187 property_value: exactMatch http://identifiers.org/mesh/D000567 property_value: exactMatch http://identifiers.org/snomedct/78494001 property_value: exactMatch https://omim.org/phenotypicSeries/PS104500 property_value: exactMatch Orphanet:88661 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5791/amelogenesis-imperfecta xsd:anyURI {source="GARD:0005791"} [Term] id: MONDO:0019508 name: van der Woude syndrome def: "Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate." [Orphanet:888] subset: ordo_malformation_syndrome {source="Orphanet:888"} synonym: "cleft lip and/or palate with mucous cysts of lower lip" RELATED [GARD:0008414] synonym: "cleft lip/palate with mucous cysts of lower lip" EXACT [Orphanet:888] synonym: "lip pit syndrome" RELATED [GARD:0008414] synonym: "lip-pit syndrome" EXACT [DOID:0060239, Orphanet:888] synonym: "LPS" RELATED ABBREVIATION [GARD:0008414] synonym: "VWS" EXACT ABBREVIATION [Orphanet:888] xref: DOID:0060239 {source="MONDO:equivalentTo"} xref: ICD9:744.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536528 {source="Orphanet:888", source="MONDO:equivalentTo", source="DOID:0060239", source="Orphanet:888/e"} xref: NCIT:C74986 {source="MONDO:equivalentTo", source="DOID:0060239"} xref: OMIM:604547 {source="Orphanet:888/btnt", source="MONDO:relatedTo", source="Orphanet:888"} xref: Orphanet:888 {source="MONDO:equivalentTo", source="DOID:0060239"} xref: SCTID:79261008 {source="MONDO:equivalentTo", source="DOID:0060239"} xref: UMLS:C0175697 {source="NCIT:C74986", source="Orphanet:888", source="MONDO:equivalentTo", source="DOID:0060239", source="Orphanet:888/e"} is_a: MONDO:0002254 {source="DOID:0060239", source="NCIT:C74986"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:888"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability property_value: exactMatch DOID:0060239 property_value: exactMatch http://identifiers.org/mesh/C536528 property_value: exactMatch http://identifiers.org/snomedct/79261008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0175697 property_value: exactMatch NCIT:C74986 property_value: exactMatch Orphanet:888 property_value: excluded_subClassOf MONDO:0015501 {source="Orphanet:888"} property_value: relatedMatch https://omim.org/entry/604547 [Term] id: MONDO:0019511 name: obsolete autosomal dominant medullary cystic kidney disease with hyperuricemia property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4444 xsd:anyURI is_obsolete: true replaced_by: MONDO:0008073 [Term] id: MONDO:0019513 name: esophageal malformation comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:88993"} xref: Orphanet:88993 {source="MONDO:equivalentTo"} is_a: EFO:0009544 ! esophageal disease is_a: MONDO:0020019 {source="Orphanet:88993"} ! digestive tract malformation property_value: exactMatch Orphanet:88993 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0019514 name: hepatic veno-occlusive disease def: "Hepatic veno-occlusive disease (hepatic VOD) is a condition resulting from toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins." [Orphanet:890] subset: gard_rare {source="GARD:0013004"} subset: ordo_disease {source="Orphanet:890"} synonym: "hepatic Vod" EXACT [Orphanet:890-text] synonym: "liver veno-occlusive disease" EXACT [NCIT:C26793] synonym: "sinusoidal obstruction syndrome" EXACT [Orphanet:890] synonym: "veno-occlusive disease" RELATED [DOID:0080177] xref: DOID:0080177 {source="MONDO:equivalentTo"} xref: ICD10CM:K76.5 {source="Orphanet:890/e", source="DOID:0080177", source="MONDO:equivalentTo", source="Orphanet:890"} xref: ICD9:453.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10047216 {source="Orphanet:890/e", source="Orphanet:890"} xref: MESH:D006504 {source="Orphanet:890/e", source="DOID:0080177", source="MONDO:equivalentTo", source="Orphanet:890"} xref: NCIT:C26793 {source="MONDO:equivalentTo"} xref: Orphanet:890 {source="MONDO:equivalentTo"} xref: SCTID:65617004 {source="MONDO:equivalentTo"} xref: UMLS:C0019156 {source="Orphanet:890/e", source="NCIT:C26793", source="MONDO:equivalentTo", source="Orphanet:890"} is_a: MONDO:0002405 {source="DOID:0080177", source="NCIT:C26793"} ! hepatic vascular disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0015113"} ! rare property_value: closeMatch http://identifiers.org/meddra/10047216 property_value: exactMatch DOID:0080177 property_value: exactMatch http://identifiers.org/mesh/D006504 property_value: exactMatch http://identifiers.org/snomedct/65617004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019156 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K76.5 property_value: exactMatch NCIT:C26793 property_value: exactMatch Orphanet:890 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13004/hepatic-veno-occlusive-disease xsd:anyURI {source="GARD:0013004"} [Term] id: MONDO:0019516 name: exudative vitreoretinopathy def: "Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness." [Orphanet:891] subset: ordo_disease {source="Orphanet:891"} synonym: "Criswick-Schepens syndrome" EXACT [Orphanet:891] synonym: "exudative vitreoretinopathy, familial" RELATED [GARD:0001613] synonym: "familial exudative vitreoretinopathy" EXACT [DOID:0050535] synonym: "FEVR" EXACT ABBREVIATION [DOID:0050535, Orphanet:891] xref: DOID:0050535 {source="MONDO:equivalentTo"} xref: ICD9:362.10 {source="DOID:0050535"} xref: MESH:C580083 {source="MONDO:equivalentTo"} xref: OMIMPS:133780 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:891 {source="DOID:0050535", source="MONDO:equivalentTo"} xref: SCTID:232063007 {source="MONDO:equivalentTo"} xref: UMLS:C4072980 {source="MONDO:equivalentTo"} is_a: MONDO:0002311 {source="DOID:0050535"} ! retinal vascular disorder is_a: MONDO:0020248 {source="Orphanet:891"} ! vitreoretinal degeneration property_value: exactMatch DOID:0050535 property_value: exactMatch http://identifiers.org/mesh/C580083 property_value: exactMatch http://identifiers.org/snomedct/232063007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4072980 property_value: exactMatch https://omim.org/phenotypicSeries/PS133780 property_value: exactMatch Orphanet:891 [Term] id: MONDO:0019517 name: Waardenburg syndrome type 2 def: "Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum." [Orphanet:895] subset: gard_rare {source="GARD:0005520"} subset: ordo_clinical_subtype {source="Orphanet:895"} synonym: "Waardenburg syndrome type 2" EXACT [] synonym: "Waardenburg syndrome type II" EXACT [Orphanet:895] synonym: "WS 2" RELATED [GARD:0005520] synonym: "WS type 2" RELATED [GARD:0005520] synonym: "WS2" EXACT ABBREVIATION [Orphanet:895] xref: ICD10CM:E70.3 {source="Orphanet:895", source="MONDO:relatedTo", source="Orphanet:895/attributed", source="Orphanet:895/ntbt"} xref: MESH:C536463 {source="Orphanet:895", source="MONDO:equivalentTo", source="Orphanet:895/e"} xref: NCIT:C75009 {source="MONDO:equivalentTo"} xref: Orphanet:895 {source="MONDO:equivalentTo"} xref: UMLS:C2700265 {source="NCIT:C75009", source="Orphanet:895", source="MONDO:equivalentTo", source="Orphanet:895/e"} is_a: MONDO:0018094 {source="NCIT:C75009", source="Orphanet:895"} ! Waardenburg syndrome property_value: exactMatch http://identifiers.org/mesh/C536463 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2700265 property_value: exactMatch NCIT:C75009 property_value: exactMatch Orphanet:895 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5520/waardenburg-syndrome-type-2 xsd:anyURI {source="GARD:0005520"} [Term] id: MONDO:0019518 name: Waardenburg-Shah syndrome def: "Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease." [Orphanet:897] subset: gard_rare {source="GARD:0005524"} subset: ordo_disease {source="Orphanet:897"} synonym: "Hirschsprung disease with pigmentary anomaly" RELATED [GARD:0005524] synonym: "Shah-Waardenburg syndrome" EXACT [https://rarediseases.info.nih.gov/diseases/5524/waardenburg-syndrome-type-4, Orphanet:897] synonym: "Waardenburg syndrome type 4" EXACT [https://rarediseases.info.nih.gov/diseases/5524/waardenburg-syndrome-type-4, NCIT:C124842, Orphanet:897] synonym: "Waardenburg syndrome type IV" EXACT [NCIT:C124842] synonym: "Waardenburg-Hirschsprung disease" RELATED [GARD:0005524] synonym: "Waardenburg-Hirschsprung syndrome" EXACT [GARD:0005524, Orphanet:897] synonym: "Waardenburg-Shah syndrome" EXACT [GARD:0005524, NCIT:C124842] synonym: "WS4" EXACT ABBREVIATION [Orphanet:897] xref: NCIT:C124842 {source="MONDO:equivalentTo"} xref: Orphanet:897 {source="GARD:0005524", source="MONDO:equivalentTo"} xref: UMLS:CN206330 {source="MONDO:equivalentTo"} is_a: MONDO:0018094 {source="NCIT:C124842"} ! Waardenburg syndrome is_a: MONDO:0021189 {source="Orphanet:897"} ! intestinal motility disease is_a: MONDO:0021635 {source="Wikipedia:Neurocristopathy"} ! neurocristopathy relationship: has_characteristic MONDO:0021136 {source="MONDO:0015184"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206330 property_value: exactMatch NCIT:C124842 property_value: exactMatch Orphanet:897 property_value: excluded_subClassOf MONDO:0005328 property_value: excluded_subClassOf MONDO:0019290 {source="Orphanet:897"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5682 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5524/waardenburg-syndrome-type-4 xsd:anyURI {source="GARD:0005524"} [Term] id: MONDO:0019520 name: syndromic lymphedema def: "A lymphedema that is part of a larger syndrome." [MONDO:patterns/syndromic] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:89832"} synonym: "syndrome associated with lymphedema" EXACT [MONDO:patterns/syndromic] synonym: "syndromic lymphedema" EXACT [MONDO:patterns/syndromic] xref: Orphanet:89832 {source="MONDO:equivalentObsolete"} xref: UMLS:CN227645 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 ! syndromic disease is_a: MONDO:0019297 {source="MONDO:Redundant", source="Orphanet:89832"} ! lymphedema intersection_of: MONDO:0019297 ! lymphedema intersection_of: has_characteristic MONDO:0021127 ! has a syndromic presentation property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227645 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0019521 name: centripetalis recessive dystrophic epidermolysis bullosa def: "Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB), characterized by blistering which begins acrally and then progressively spreads toward the trunk." [Orphanet:89841] subset: ordo_disease {source="Orphanet:89841"} synonym: "centripetal dystrophic epidermolysis bullosa" EXACT [Orphanet:89841] synonym: "centripetal recessive dystrophic epidermolysis bullosa" EXACT [Orphanet:89841] synonym: "RDEB, centripetalis" EXACT [Orphanet:89841] synonym: "RDEB-Ce" EXACT [Orphanet:89841] xref: Orphanet:89841 {source="MONDO:equivalentObsolete"} xref: SCTID:725419003 {source="MONDO:equivalentTo"} xref: UMLS:C4511056 {source="MONDO:equivalentTo"} is_a: EFO:1000692 {source="Orphanet:89841"} ! epidermolysis bullosa dystrophica property_value: exactMatch http://identifiers.org/snomedct/725419003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4511056 [Term] id: MONDO:0019522 name: recessive dystrophic epidermolysis bullosa-generalized other def: "Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities." [Orphanet:89842] subset: gard_rare {source="GARD:0012794"} subset: ordo_disease {source="Orphanet:89842"} synonym: "autosomal recessive dystrophic epidermolysis bullosa generalisata mitis" EXACT [Orphanet:89842] synonym: "autosomal recessive dystrophic epidermolysis bullosa, generalised other" EXACT OMO:0003005 [] synonym: "autosomal recessive dystrophic epidermolysis bullosa, generalized other" EXACT [Orphanet:89842] synonym: "generalised mitis RDEB" EXACT OMO:0003005 [] synonym: "generalized mitis RDEB" EXACT [Orphanet:89842] synonym: "RDEB generalisata mitis" EXACT [Orphanet:89842] synonym: "RDEB, generalised intermediate" EXACT OMO:0003005 [] synonym: "RDEB, generalized intermediate" EXACT [Orphanet:89842] synonym: "RDEB, non-Hallopeau-Siemens type" EXACT [Orphanet:89842] synonym: "RDEB-generalized other" EXACT [Orphanet:89842] synonym: "RDEB-O" EXACT [Orphanet:89842] synonym: "recessive dystrophic epidermolysis bullosa, generalised intermediate" RELATED OMO:0003005 [] synonym: "recessive dystrophic epidermolysis bullosa, generalized intermediate" RELATED [Orphanet:89842] synonym: "recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type" EXACT [Orphanet:89842] xref: Orphanet:89842 {source="MONDO:equivalentTo"} xref: UMLS:CN206337 {source="MONDO:equivalentTo"} is_a: EFO:1000692 {source="Orphanet:89842"} ! epidermolysis bullosa dystrophica property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206337 property_value: exactMatch Orphanet:89842 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12794/recessive-dystrophic-epidermolysis-bullosa-generalized-other xsd:anyURI {source="GARD:0012794"} [Term] id: MONDO:0019524 name: Bartter syndrome type 4 def: "A form of Bartter syndrome characterized by maternal polyhydramnios, premature delivery, salt loss, polyuria and sensorineural deafness, associated with hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone, and low to normal blood pressure. Urinary calcium excretion rates are variable, and nephrocalcinosis is typically absent." [Orphanet:89938] subset: ordo_clinical_subtype {source="Orphanet:89938"} synonym: "Bartter syndrome type 4" EXACT [Orphanet:89938] synonym: "Bartter syndrome type IV" EXACT [Orphanet:89938] synonym: "Bartter syndrome with sensorineural deafness" EXACT [GARD:0010508, Orphanet:89938] xref: Orphanet:89938 {source="MONDO:equivalentTo"} xref: SCTID:700112007 {source="MONDO:equivalentTo"} xref: UMLS:C3838860 {source="MONDO:equivalentTo"} xref: UMLS:CN206343 {source="MONDO:equivalentTo"} is_a: MONDO:0015231 {source="Orphanet:89938"} ! Bartter syndrome property_value: exactMatch http://identifiers.org/snomedct/700112007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3838860 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206343 property_value: exactMatch Orphanet:89938 [Term] id: MONDO:0019525 name: tetrasomy X def: "Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." [Orphanet:9] subset: gard_rare {source="GARD:0007754"} subset: ordo_malformation_syndrome {source="Orphanet:9"} synonym: "48 XXXX" RELATED [GARD:0007754] synonym: "48 XXXX syndrome" RELATED [GARD:0007754] synonym: "48,XXXX syndrome" EXACT [Orphanet:9] synonym: "quadruple X" EXACT [Orphanet:9] synonym: "tetra X" EXACT [Orphanet:9] synonym: "tetrasomy type X" EXACT [MONDORULE:1, Orphanet:9] xref: ICD9:758.81 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536502 {source="Orphanet:9", source="MONDO:equivalentTo", source="Orphanet:9/e"} xref: Orphanet:9 {source="MONDO:equivalentTo"} xref: SCTID:10567003 {source="MONDO:equivalentTo"} xref: UMLS:C0265496 {source="Orphanet:9", source="MONDO:equivalentTo", source="Orphanet:9/e"} is_a: MONDO:0019852 {source="Orphanet:9"} ! inherited primary ovarian failure is_a: MONDO:0030502 {source="https://orcid.org/0000-0002-4142-7153"} ! tetrasomy is_a: MONDO:0700027 ! chromosome X disorder property_value: exactMatch http://identifiers.org/mesh/C536502 property_value: exactMatch http://identifiers.org/snomedct/10567003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265496 property_value: exactMatch Orphanet:9 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7754/tetrasomy-x xsd:anyURI {source="GARD:0007754"} [Term] id: MONDO:0019530 name: non-syndromic syndactyly def: "A congenital condition characterized by webbing between the fingers and/or toes, joining the digits together. In rare cases, the joining of the fingers or toes may involve bony fusion between the digits. Common causes include Down Syndrome and hereditary syndactyly." [NCIT:C87125] comment: Editor note: Orphanet calls this brachydactyly, but this is implicitly the non-syndromic form due to placement in the ORDO hierarchy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:90025"} synonym: "chromosome 2q35 duplication syndrome" NARROW [DOID:11193, OMIM:185900] synonym: "isolated syndactyly" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "nonsyndromic syndactyly" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "symphalangism" RELATED [DOID:11193] synonym: "symphalangy" RELATED [DOID:11193] synonym: "syndactyly" RELATED [MONDO:ambiguous] synonym: "webbing of digits" RELATED [DOID:11193] xref: MedDRA:10042778 {source="Orphanet:90025/e"} xref: NCIT:C87125 {source="MONDO:equivalentTo"} xref: Orphanet:90025 {source="MONDO:equivalentTo", source="DOID:11193"} is_a: MONDO:0019714 {source="Orphanet:90025"} ! non-syndromic polydactyly, syndactyly and/or hyperphalangy is_a: MONDO:0021002 {source="https://orcid.org/0000-0001-5208-3432"} ! syndactyly property_value: closeMatch http://identifiers.org/meddra/10042778 property_value: exactMatch NCIT:C87125 property_value: exactMatch Orphanet:90025 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4051 xsd:anyURI [Term] id: MONDO:0019531 name: hemolytic anemia due to glutathione reductase deficiency alt_id: MONDO:0032856 def: "Haemolytic anemia due to glutathione reductase (GSR) deficiency is characterized by nearly complete absence of GSR activity in erythrocytes." [Orphanet:90030] subset: ordo_disease {source="Orphanet:90030"} synonym: "HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY" RELATED [OMIM:618660] xref: OMIM:618660 {source="MONDO:equivalentTo"} xref: Orphanet:90030 {source="MONDO:equivalentTo", source="OMIM:618660"} is_a: MONDO:0003689 ! familial hemolytic anemia is_a: MONDO:0040566 {source="PMID:33340416"} ! inherited glutathione metabolism disease property_value: exactMatch https://omim.org/entry/618660 property_value: exactMatch Orphanet:90030 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0019537 name: hemoglobin D disease def: "Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia)." [Orphanet:90039] subset: ordo_disease {source="Orphanet:90039"} synonym: "Hb-D disease" EXACT [DOID:5378] synonym: "hemoglobin D disease" EXACT [DOID:5378, NCIT:C35344] xref: DOID:5378 {source="MONDO:equivalentTo"} xref: ICD9:282.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10055019 {source="Orphanet:90039/e", source="Orphanet:90039"} xref: NCIT:C35344 {source="DOID:5378", source="MONDO:equivalentTo"} xref: Orphanet:90039 {source="MONDO:equivalentTo"} xref: SCTID:66729008 {source="DOID:5378", source="MONDO:equivalentTo"} xref: UMLS:C0272080 {source="Orphanet:90039/e", source="DOID:5378", source="MONDO:equivalentTo", source="NCIT:C35344", source="Orphanet:90039"} is_a: MONDO:0002280 {source="Orphanet:90039", source="Orphanet:90039/inferred"} ! anemia is_a: MONDO:0019050 {source="DOID:5378", source="NCIT:C35344", source="Orphanet:90039"} ! inherited hemoglobinopathy property_value: closeMatch http://identifiers.org/meddra/10055019 property_value: exactMatch DOID:5378 property_value: exactMatch http://identifiers.org/snomedct/66729008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272080 property_value: exactMatch NCIT:C35344 property_value: exactMatch Orphanet:90039 [Term] id: MONDO:0019541 name: non-infectious posterior uveitis comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:90061"} synonym: "non-infectious choroiditis" EXACT [Orphanet:90061] xref: Orphanet:90061 {source="MONDO:equivalentTo"} is_a: MONDO:0001280 {source="Orphanet:90061"} ! choroiditis property_value: exactMatch Orphanet:90061 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0019548 name: autosomal dominant intermediate Charcot-Marie-Tooth disease def: "Autosomal dominant form of intermediate Charcot-Marie-Tooth disease." [MONDO:patterns/autosomal_dominant] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:90114"} synonym: "autosomal dominant intermediate Charcot-Marie-Tooth" RELATED [GARD:0012436] synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease" EXACT [] synonym: "CMTDI" EXACT ABBREVIATION [Orphanet:90114] synonym: "intermediate Charcot-Marie-Tooth disease, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: Orphanet:90114 {source="MONDO:equivalentTo"} xref: UMLS:CN206376 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0018778 {source="MONDO:Redundant", source="Orphanet:90114"} ! intermediate Charcot-Marie-Tooth disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206376 property_value: exactMatch Orphanet:90114 [Term] id: MONDO:0019549 name: severe early-onset axonal neuropathy due to MFN2 deficiency def: "A rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop." [https://orcid.org/0000-0001-5208-3432, Orphanet:90118] subset: ordo_disease {source="Orphanet:90118"} synonym: "AR-CMT2, Ouvrier type" EXACT [Orphanet:90118] synonym: "autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type" EXACT [Orphanet:90118] synonym: "SEOAN due to MFN2 deficiency" EXACT [Orphanet:90118] xref: Orphanet:90118 {source="MONDO:equivalentTo"} xref: SCTID:766977007 {source="MONDO:equivalentTo"} xref: UMLS:CN206378 {source="MONDO:equivalentTo"} is_a: MONDO:0018775 {source="Orphanet:90118", source="https://orcid.org/0000-0001-5208-3432"} ! axonal hereditary motor and sensory neuropathy property_value: exactMatch http://identifiers.org/snomedct/766977007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206378 property_value: exactMatch Orphanet:90118 [Term] id: MONDO:0019550 name: hereditary motor and sensory neuropathy with acrodystrophy def: "A rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999." [https://orcid.org/0000-0001-5208-3432, Orphanet:90119] subset: ordo_disease {source="Orphanet:90119"} synonym: "AR-CMT2 with acrodystrophy" EXACT [Orphanet:90119] synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy" EXACT [Orphanet:90119] synonym: "autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy" EXACT [Orphanet:90119] synonym: "HMSN with acrodystrophy" EXACT [Orphanet:90119] xref: Orphanet:90119 {source="MONDO:equivalentTo"} xref: UMLS:CN206379 {source="MONDO:equivalentTo"} is_a: MONDO:0018775 {source="Orphanet:90119", source="https://orcid.org/0000-0001-5208-3432"} ! axonal hereditary motor and sensory neuropathy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206379 property_value: exactMatch Orphanet:90119 [Term] id: MONDO:0019551 name: hereditary motor and sensory neuropathy type 6 subset: ordo_disease {source="Orphanet:90120"} synonym: "Charcot-Marie-Tooth disease type 6" EXACT [MONDO:0000856, Orphanet:90120] synonym: "CMT6" EXACT ABBREVIATION [Orphanet:90120] synonym: "hereditary motor and sensory neuropathy type 6" EXACT [DOID:0080068] synonym: "peripheral neuropathy and optic atrophy" EXACT [Orphanet:90120] xref: DOID:0080068 {source="MONDO:equivalentTo"} xref: Orphanet:90120 {source="MONDO:equivalentTo"} xref: UMLS:C0393807 {source="Orphanet:90120", source="MONDO:equivalentTo"} is_a: MONDO:0018775 {source="MONDO:cjm"} ! axonal hereditary motor and sensory neuropathy property_value: exactMatch DOID:0080068 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393807 property_value: exactMatch Orphanet:90120 property_value: excluded_subClassOf MONDO:0015360 {source="Orphanet:90120"} [Term] id: MONDO:0019557 name: chilblain lupus def: "A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative." [Orphanet:90280] comment: Editor note: ORDO classifies as genetic and has a separate subclass for familiar form subset: ordo_disease {source="Orphanet:90280"} synonym: "CHLE" EXACT ABBREVIATION [PMID:11176709] synonym: "Hutchinson lupus" EXACT [PMID:11176709] xref: DOID:0060386 {source="MONDO:equivalentTo"} xref: MedDRA:10025141 {source="Orphanet:90280/e", source="Orphanet:90280"} xref: Orphanet:90280 {source="DOID:0060386", source="MONDO:equivalentTo"} xref: UMLS:C0024145 {source="DOID:0060386", source="Orphanet:90280/e", source="MONDO:equivalentTo", source="Orphanet:90280"} xref: UMLS:CN239336 {source="MONDO:equivalentTo"} is_a: MONDO:0000603 ! autoimmune disorder of cardiovascular system is_a: MONDO:0015574 {source="Orphanet:90280"} ! chronic cutaneous lupus erythematosus is_a: MONDO:0019293 {source="Orphanet:90280"} ! skin vascular disease property_value: closeMatch http://identifiers.org/meddra/10025141 property_value: exactMatch DOID:0060386 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024145 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239336 property_value: exactMatch Orphanet:90280 property_value: excluded_subClassOf MONDO:0015948 {source="Orphanet:90280"} [Term] id: MONDO:0019558 name: discoid lupus erythematosus def: "A chronic, autoimmune skin condition that manifests with a red, scaling rash, most often found on the face, ears, and scalp; these lesions often lead to permanent scarring and dyspigmentation. Patients may have lesions with or without other symptoms or antibodies suggestive of systemic lupus erythematosus (SLE)." [NCIT:C26820] subset: ordo_disease {source="Orphanet:90281"} synonym: "DLE" EXACT ABBREVIATION [NCIT:C26820] xref: ICD10CM:L93.0 {source="Orphanet:90281", source="MONDO:equivalentTo", source="Orphanet:90281/e"} xref: MedDRA:10013072 {source="Orphanet:90281", source="Orphanet:90281/e"} xref: MESH:D008179 {source="Orphanet:90281", source="MONDO:equivalentTo", source="Orphanet:90281/e"} xref: NCIT:C26820 {source="MONDO:equivalentTo"} xref: Orphanet:90281 {source="MONDO:equivalentTo"} xref: SCTID:200938002 {source="MONDO:equivalentTo"} xref: UMLS:C0024138 {source="Orphanet:90281", source="MONDO:equivalentTo", source="Orphanet:90281/e", source="NCIT:C26820"} is_a: MONDO:0015574 {source="Orphanet:90281"} ! chronic cutaneous lupus erythematosus property_value: closeMatch http://identifiers.org/meddra/10013072 property_value: exactMatch http://identifiers.org/mesh/D008179 property_value: exactMatch http://identifiers.org/snomedct/200938002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024138 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L93.0 property_value: exactMatch NCIT:C26820 property_value: exactMatch Orphanet:90281 [Term] id: MONDO:0019565 name: hereditary von Willebrand disease def: "Hereditary von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N)." [Orphanet:903] subset: ordo_disease {source="Orphanet:903"} synonym: "congenital von willebrand disease" RELATED [] synonym: "congenital von willebrand's disease" EXACT [] synonym: "hereditary von Willebrand disease" EXACT [] synonym: "hereditary von Willebrand disease (hereditary or acquired)" EXACT [MONDO:patterns/hereditary] synonym: "vascular haemophilia" BROAD OMO:0003005 [] synonym: "vascular hemophilia" BROAD [DOID:12531] synonym: "vascular pseudohemophilia" EXACT [DOID:12531] synonym: "von Willebrand disease" BROAD [DOID:12531, Orphanet:903] synonym: "von Willebrand disorder" BROAD [DOID:12531] synonym: "von Willebrand's disease" RELATED [DOID:12531] synonym: "von Willebrand's-Jurgens' disease" BROAD [DOID:12531] synonym: "von Willebrand-Jrgens disease" EXACT [DOID:12531] synonym: "von Willebrand-Jurgens disease" BROAD [DOID:12531] xref: DOID:12531 {source="MONDO:equivalentTo"} xref: ICD9:286.4 {source="DOID:12531"} xref: MedDRA:10047715 {source="Orphanet:903", source="Orphanet:903/e"} xref: MESH:C531844 {source="MONDO:equivalentTo"} xref: Orphanet:903 {source="MONDO:equivalentTo"} xref: SCTID:234446004 {source="MONDO:equivalentTo"} xref: UMLS:C0042974 {source="MONDO:equivalentTo", source="Orphanet:903", source="NCIT:C68677", source="DOID:12531", source="Orphanet:903/e"} is_a: MONDO:0002243 ! hemorrhagic disease is_a: MONDO:0021181 ! inherited blood coagulation disorder is_a: MONDO:0024574 {source="MESH:C531844", source="MONDO:Redundant"} ! von Willebrand disease (hereditary or acquired) intersection_of: MONDO:0024574 ! von Willebrand disease (hereditary or acquired) intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: closeMatch http://identifiers.org/meddra/10047715 property_value: exactMatch DOID:12531 property_value: exactMatch http://identifiers.org/mesh/C531844 property_value: exactMatch http://identifiers.org/snomedct/234446004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042974 property_value: exactMatch Orphanet:903 [Term] id: MONDO:0019567 name: Ehlers-Danlos syndrome, classic type, 1 def: "Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A1 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_etiological_subtype {source="Orphanet:90309"} synonym: "EDS I" EXACT [Orphanet:90309] synonym: "EDSCL1" EXACT ABBREVIATION [OMIM:130000] synonym: "Ehlers-Danlos syndrome, classic type, 1" EXACT [OMIM:130000] synonym: "Ehlers-Danlos syndrome, type 1" EXACT [DOID:14720] synonym: "Ehlers-Danlos syndrome, type I" EXACT [NCIT:C125696] synonym: "type I Ehlers-Danlos syndrome" EXACT [DOID:14720] xref: DOID:14720 {source="MONDO:equivalentTo"} xref: MESH:C536194 {source="Orphanet:90309", source="MONDO:equivalentTo", source="Orphanet:90309/e", source="DOID:14720"} xref: NCIT:C125696 {source="MONDO:equivalentTo"} xref: OMIM:130000 {source="MONDO:equivalentTo", source="OMIM:130000"} xref: Orphanet:90309 {source="MONDO:equivalentObsolete"} xref: SCTID:83470009 {source="MONDO:equivalentTo", source="DOID:14720"} xref: UMLS:C0268335 {source="Orphanet:90309", source="MONDO:equivalentTo", source="NCIT:C125696", source="Orphanet:90309/e", source="DOID:14720"} is_a: MONDO:0007522 {source="Orphanet:90309"} ! Ehlers-Danlos syndrome, classic type property_value: exactMatch DOID:14720 property_value: exactMatch http://identifiers.org/mesh/C536194 property_value: exactMatch http://identifiers.org/snomedct/83470009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268335 property_value: exactMatch https://omim.org/entry/130000 property_value: exactMatch NCIT:C125696 [Term] id: MONDO:0019568 name: Ehlers-Danlos syndrome, classic type, 2 def: "Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A2 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_etiological_subtype {source="Orphanet:90318"} synonym: "EDS II" EXACT [Orphanet:90318] synonym: "EDS II, formerly" RELATED [OMIM:130010] synonym: "EDSCL2" EXACT ABBREVIATION [OMIM:130010] synonym: "Ehlers Danlos syndrome, mild Classic type" RELATED [OMIM:130010] synonym: "Ehlers Danlos syndrome, mild Classic type, formerly" RELATED [OMIM:130010] synonym: "Ehlers Danlos syndrome, mitis type" RELATED [OMIM:130010] synonym: "Ehlers Danlos syndrome, mitis type, formerly" RELATED [OMIM:130010] synonym: "Ehlers-Danlos syndrome, classic type, 2" EXACT [OMIM:130010] synonym: "Ehlers-Danlos syndrome, type Ii" RELATED [OMIM:130010] synonym: "Ehlers-Danlos syndrome, type Ii, formerly" RELATED [OMIM:130010] xref: DOID:0080726 {source="MONDO:equivalentTo"} xref: MESH:C536195 {source="Orphanet:90318/e", source="MONDO:equivalentTo", source="Orphanet:90318"} xref: NCIT:C125697 {source="MONDO:equivalentTo"} xref: OMIM:130010 {source="MONDO:equivalentTo"} xref: Orphanet:90318 {source="MONDO:equivalentObsolete", source="OMIM:130010"} xref: UMLS:C0268336 {source="Orphanet:90318/e", source="MONDO:equivalentTo", source="NCIT:C125697", source="Orphanet:90318"} is_a: MONDO:0007522 {source="Orphanet:90318"} ! Ehlers-Danlos syndrome, classic type property_value: exactMatch DOID:0080726 property_value: exactMatch http://identifiers.org/mesh/C536195 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268336 property_value: exactMatch https://omim.org/entry/130010 property_value: exactMatch NCIT:C125697 [Term] id: MONDO:0019569 name: Cockayne syndrome type 1 def: "Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8." [NCIT:C135725] subset: ordo_clinical_subtype {source="Orphanet:90321"} synonym: "Cockayne syndrome A" EXACT [MONDO:0008997, MONDO:Lexical, OMIM:216400] synonym: "Cockayne syndrome caused by mutation in ERCC8" EXACT [MONDO:design_pattern] synonym: "Cockayne syndrome classic form" RELATED [GARD:0001415] synonym: "Cockayne syndrome classical" RELATED [GARD:0001415] synonym: "Cockayne syndrome type 1" EXACT [] synonym: "Cockayne syndrome type A" RELATED [GARD:0001415] synonym: "Cockayne syndrome type a" EXACT [MONDORULE:1, OMIM:216400] synonym: "Cockayne syndrome type I" EXACT [GARD:0001415, Orphanet:90321] synonym: "Cockayne syndrome, type A" EXACT [OMIM:216400, OMIM:genemap2] synonym: "CSA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:216400] synonym: "ERCC8 Cockayne syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080907 {source="MONDO:equivalentTo"} xref: NCIT:C135725 {source="MONDO:equivalentTo"} xref: OMIM:216400 {source="MONDO:equivalentTo", source="Orphanet:90321", source="GARD:0001415", source="Orphanet:90321/btnt"} xref: Orphanet:90321 {source="OMIM:216400", source="MONDO:equivalentTo", source="GARD:0001415"} xref: Orphanet:90322 {source="OMIM:216400", source="MONDO:directSiblingOf"} xref: Orphanet:90324 {source="OMIM:216400", source="MONDO:directSiblingOf"} xref: UMLS:C0751039 {source="OMIM:216400", source="MONDO:equivalentTo", source="Orphanet:90321", source="MONDO:ncbi_mim2gene_medline", source="GARD:0001415", source="Orphanet:90321/e", source="NCIT:C135725"} is_a: MONDO:0016006 {source="MONDO:Redundant", source="NCIT:C135725", source="Orphanet:191/btnt", source="Orphanet:90321"} ! Cockayne syndrome property_value: exactMatch DOID:0080907 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751039 property_value: exactMatch https://omim.org/entry/216400 property_value: exactMatch NCIT:C135725 property_value: exactMatch Orphanet:90321 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1415/cockayne-syndrome-type-i xsd:anyURI {source="GARD:0001415"} [Term] id: MONDO:0019570 name: Cockayne syndrome type 2 def: "Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6." [NCIT:C135726] subset: ordo_clinical_subtype {source="Orphanet:90322"} synonym: "Cockayne syndrome B" EXACT [MONDO:0007582, MONDO:Lexical, OMIM:133540] synonym: "Cockayne syndrome type 2" EXACT [GARD:0001420] synonym: "Cockayne syndrome type B" EXACT [MONDORULE:1, OMIM:133540] synonym: "Cockayne syndrome type II" EXACT [Orphanet:90322] synonym: "Cockayne syndrome, type B" EXACT [OMIM:133540, OMIM:genemap2] synonym: "CSB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:133540] xref: DOID:0080908 {source="MONDO:equivalentTo"} xref: NCIT:C135726 {source="MONDO:equivalentTo"} xref: OMIM:133540 {source="MONDO:equivalentTo", source="Orphanet:90322", source="Orphanet:90322/btnt"} xref: Orphanet:90321 {source="OMIM:133540", source="MONDO:directSiblingOf"} xref: Orphanet:90322 {source="MONDO:equivalentTo", source="OMIM:133540"} xref: Orphanet:90324 {source="OMIM:133540", source="MONDO:directSiblingOf"} xref: UMLS:C0751038 {source="NCIT:C135726", source="MONDO:equivalentTo", source="OMIM:133540", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:90322", source="Orphanet:90322/e"} is_a: MONDO:0016006 {source="NCIT:C135726", source="Orphanet:191/btnt", source="Orphanet:90322"} ! Cockayne syndrome property_value: exactMatch DOID:0080908 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751038 property_value: exactMatch https://omim.org/entry/133540 property_value: exactMatch NCIT:C135726 property_value: exactMatch Orphanet:90322 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0019571 name: autosomal dominant cutis laxa def: "Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement." [Orphanet:90348] subset: gard_rare {source="GARD:0001639"} subset: ordo_disease {source="Orphanet:90348"} synonym: "ADCL" EXACT ABBREVIATION [DOID:0070142, Orphanet:90348] synonym: "cutis laxa, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: DOID:0070142 {source="MONDO:equivalentTo"} xref: MESH:C562627 {source="MONDO:equivalentTo"} xref: Orphanet:90348 {source="DOID:0070142", source="MONDO:equivalentTo"} xref: SCTID:111388003 {source="MONDO:equivalentTo"} xref: UMLS:C0268350 {source="Orphanet:90348/e", source="MONDO:equivalentTo", source="Orphanet:90348"} is_a: MONDO:0000426 {source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0100237 {source="DOID:0070142", source="MESH:C562627", source="MONDO:Redundant", source="Orphanet:90348"} ! inherited cutis laxa property_value: exactMatch DOID:0070142 property_value: exactMatch http://identifiers.org/mesh/C562627 property_value: exactMatch http://identifiers.org/snomedct/111388003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268350 property_value: exactMatch Orphanet:90348 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1639/cutis-laxa-autosomal-dominant xsd:anyURI {source="GARD:0001639"} [Term] id: MONDO:0019572 name: autosomal recessive cutis laxa type 1 def: "Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)." [Orphanet:90349] subset: ordo_disease {source="Orphanet:90349"} synonym: "ARCL1" EXACT ABBREVIATION [Orphanet:90349] synonym: "autosomal recessive cutis laxa type 1" EXACT [DOID:0070144] synonym: "autosomal recessive cutis laxa type I" RELATED [DOID:0070144] synonym: "autosomal recessive cutis laxa with severe systemic involvement" EXACT [Orphanet:90349] synonym: "autosomal recessive cutis laxa, pulmonary emphysema type" EXACT [Orphanet:90349] synonym: "cutis laxa, autosomal recessive type 1" RELATED [GARD:0008480] synonym: "cutis laxa, type 1" RELATED [GARD:0008480] xref: DOID:0070144 {source="MONDO:equivalentTo"} xref: MESH:C536225 {source="MONDO:equivalentTo"} xref: Orphanet:90349 {source="MONDO:equivalentTo"} xref: PMID:19401719 {source="DOID:0070144"} xref: SCTID:254222002 {source="DOID:0070144", source="MONDO:equivalentTo"} xref: UMLS:CN206407 {source="MONDO:equivalentTo"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0100237 {source="DOID:0070144", source="Orphanet:90349"} ! inherited cutis laxa property_value: exactMatch DOID:0070144 property_value: exactMatch http://identifiers.org/mesh/C536225 property_value: exactMatch http://identifiers.org/snomedct/254222002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206407 property_value: exactMatch Orphanet:90349 property_value: excluded_subClassOf MONDO:0005385 {source="Orphanet:90349"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5663 xsd:anyURI [Term] id: MONDO:0019573 name: autosomal recessive cutis laxa type 2 def: "A spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debre) type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS)." [https://orcid.org/0000-0001-5208-3432, Orphanet:90350] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:90350"} synonym: "ARCL2" EXACT ABBREVIATION [Orphanet:90350] synonym: "cutis laxa with joint laxity and developmental delay" EXACT [Orphanet:90350] xref: Orphanet:90350 {source="MONDO:equivalentTo"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0017355 {source="Orphanet:90350"} ! inborn disorder of proline metabolism is_a: MONDO:0018230 {source="Orphanet:90350"} ! skeletal dysplasia is_a: MONDO:0100237 {source="Orphanet:90350"} ! inherited cutis laxa property_value: exactMatch Orphanet:90350 property_value: excluded_subClassOf MONDO:0019704 {source="Orphanet:90350"} [Term] id: MONDO:0019575 name: hypotrichosis simplex of the scalp def: "Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp." [Orphanet:90368] subset: ordo_disease {source="Orphanet:90368"} synonym: "hereditary hypotrichosis simplex of the scalp" EXACT [Orphanet:90368] xref: Orphanet:90368 {source="MONDO:equivalentTo"} xref: SCTID:717256009 {source="MONDO:equivalentTo"} is_a: MONDO:0004907 {source="Orphanet:90368"} ! alopecia property_value: exactMatch http://identifiers.org/snomedct/717256009 property_value: exactMatch Orphanet:90368 [Term] id: MONDO:0019577 name: anonychia-onychodystrophy syndrome subset: ordo_clinical_subtype {source="Orphanet:90390"} xref: MESH:C536378 {source="Orphanet:90390/e", source="MONDO:equivalentTo", source="Orphanet:90390"} xref: Orphanet:90390 {source="MONDO:equivalentTo"} xref: UMLS:C1862840 {source="Orphanet:90390/e", source="MONDO:equivalentTo", source="Orphanet:90390"} is_a: MONDO:0019211 {source="Orphanet:90390"} ! isolated congenital anonychia property_value: exactMatch http://identifiers.org/mesh/C536378 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862840 property_value: exactMatch Orphanet:90390 [Term] id: MONDO:0019586 name: X-linked nonsyndromic hearing loss def: "X-linked form of nonsyndromic deafness." [MONDO:patterns/x_linked] comment: ORDO classification not correct: https://github.com/monarch-initiative/monarch-disease-ontology/issues/408 subset: clingen subset: gard_rare synonym: "nonsyndromic deafness, X-linked" NARROW [MONDO:patterns/x_linked] synonym: "nonsyndromic genetic deafness, X-linked" NARROW [MONDO:patterns/x_linked] synonym: "X-linked deafness" NARROW [DOID:0050566] synonym: "X-linked isolated neurosensory deafness type DFN" NARROW [Orphanet:90625] synonym: "X-linked isolated neurosensory hearing loss type DFN" EXACT [Orphanet:90625] synonym: "X-linked isolated sensorineural deafness type DFN" NARROW [Orphanet:90625] synonym: "X-linked isolated sensorineural hearing loss type DFN" EXACT [Orphanet:90625] synonym: "X-linked non-syndromic neurosensory deafness type DFN" NARROW [Orphanet:90625] synonym: "X-linked non-syndromic neurosensory hearing loss type DFN" EXACT [Orphanet:90625] synonym: "X-linked non-syndromic sensorineural deafness type DFN" NARROW [Orphanet:90625] synonym: "X-linked non-syndromic sensorineural hearing loss type DFN" EXACT [Orphanet:90625] synonym: "X-linked nonsyndromic deafness" NARROW [] synonym: "X-linked nonsyndromic genetic deafness" NARROW [MONDO:design_pattern] xref: DOID:0050566 {source="MONDO:equivalentTo"} xref: Orphanet:90625 {source="DOID:0050566", source="MONDO:equivalentTo"} xref: UMLS:CN206422 {source="MONDO:equivalentTo"} is_a: MONDO:0016297 {source="Orphanet:90625"} ! prelingual non-syndromic genetic hearing loss is_a: MONDO:0016298 {source="Orphanet:90625"} ! postlingual non-syndromic genetic hearing loss is_a: MONDO:0020768 {source="MONDO:cjm"} ! X-linked deafness property_value: exactMatch DOID:0050566 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206422 property_value: exactMatch Orphanet:90625 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/551 xsd:anyURI [Term] id: MONDO:0019587 name: autosomal dominant nonsyndromic hearing loss def: "Autosomal dominant form of nonsyndromic deafness." [MONDO:patterns/autosomal_dominant] subset: clingen subset: ordo_etiological_subtype {source="Orphanet:90635"} synonym: "autosomal dominant deafness" BROAD [DOID:0050564] synonym: "autosomal dominant isolated deafness" NARROW [https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss] synonym: "autosomal dominant isolated neurosensory deafness type DFNA" NARROW [Orphanet:90635] synonym: "autosomal dominant isolated neurosensory hearing loss type DFNA" EXACT [Orphanet:90635] synonym: "autosomal dominant isolated sensorineural deafness type DFNA" NARROW [Orphanet:90635] synonym: "autosomal dominant isolated sensorineural hearing loss type DFNA" EXACT [Orphanet:90635] synonym: "autosomal dominant non-syndromic neurosensory deafness type DFNA" NARROW [Orphanet:90635] synonym: "autosomal dominant non-syndromic neurosensory hearing loss type DFNA" EXACT [Orphanet:90635] synonym: "autosomal dominant non-syndromic sensorineural deafness type DFNA" NARROW [Orphanet:90635] synonym: "autosomal dominant non-syndromic sensorineural hearing loss type DFNA" EXACT [Orphanet:90635] synonym: "autosomal dominant nonsyndromic deafness" NARROW [https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss, OMIMPS:124900] synonym: "autosomal dominant nonsyndromic genetic deafness" NARROW [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic hearing impairment" EXACT DEPRECATED [https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss] synonym: "autosomal dominant nonsyndromic hearing loss and deafness" NARROW [https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss] synonym: "deafness, autosomal dominant" NARROW [OMIMPS:124900] synonym: "nonsyndromic deafness, autosomal dominant" NARROW [MONDO:patterns/autosomal_dominant] synonym: "nonsyndromic genetic deafness, autosomal dominant" NARROW [MONDO:patterns/autosomal_dominant] xref: DOID:0050564 {source="MONDO:equivalentTo"} xref: OMIMPS:124900 {source="DOID:0050564", source="MONDO:equivalentTo"} xref: Orphanet:90635 {source="DOID:0050564", source="MONDO:equivalentTo"} xref: UMLS:CN043649 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0016297 {source="Orphanet:90635"} ! prelingual non-syndromic genetic hearing loss is_a: MONDO:0016298 {source="Orphanet:90635"} ! postlingual non-syndromic genetic hearing loss property_value: exactMatch DOID:0050564 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN043649 property_value: exactMatch https://omim.org/phenotypicSeries/PS124900 property_value: exactMatch Orphanet:90635 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/551 xsd:anyURI [Term] id: MONDO:0019588 name: hearing loss, autosomal recessive def: "Autosomal recessive form of nonsyndromic deafness." [MONDO:patterns/autosomal_recessive] subset: clingen subset: gard_rare subset: ordo_etiological_subtype {source="Orphanet:90636"} subset: prototype_pattern synonym: "autosomal recessive isolated neurosensory deafness type DFNB" NARROW [Orphanet:90636] synonym: "autosomal recessive isolated sensorineural deafness type DFNB" NARROW [Orphanet:90636] synonym: "autosomal recessive non-syndromic neurosensory deafness type DFNB" NARROW [Orphanet:90636] synonym: "autosomal recessive non-syndromic sensorineural deafness type DFNB" NARROW [Orphanet:90636] synonym: "autosomal recessive nonsyndromic deafness" NARROW [OMIM:607197] synonym: "autosomal recessive nonsyndromic genetic deafness" NARROW [MONDO:design_pattern] synonym: "deafness, autosomal recessive" NARROW [MONDO:0011791, OMIM:607197, OMIMPS:220290] synonym: "deafness, neurosensory nonsyndromic recessive, DFN" NARROW [GARD:0001710] synonym: "nonsyndromic deafness, autosomal recessive" NARROW [MONDO:patterns/autosomal_recessive] synonym: "nonsyndromic genetic deafness, autosomal recessive" NARROW [MONDO:patterns/autosomal_recessive] xref: DOID:0050565 {source="MONDO:equivalentTo"} xref: MESH:C564609 {source="MONDO:equivalentTo"} xref: OMIM:607197 {source="DOID:0050565", source="MONDO:equivalentTo"} xref: OMIMPS:220290 {source="DOID:0050565", source="MONDO:equivalentTo"} xref: Orphanet:90635 {source="OMIM:607197", source="MONDO:directSiblingOf"} xref: Orphanet:90636 {source="DOID:0050565", source="MONDO:equivalentTo"} xref: UMLS:C1846647 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:607197"} xref: UMLS:CN206424 {source="MONDO:equivalentTo"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0016297 {source="Orphanet:90636"} ! prelingual non-syndromic genetic hearing loss is_a: MONDO:0016298 {source="Orphanet:90636"} ! postlingual non-syndromic genetic hearing loss property_value: exactMatch DOID:0050565 property_value: exactMatch http://identifiers.org/mesh/C564609 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846647 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206424 property_value: exactMatch https://omim.org/entry/607197 property_value: exactMatch https://omim.org/phenotypicSeries/PS220290 property_value: exactMatch Orphanet:90636 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/551 xsd:anyURI [Term] id: MONDO:0019589 name: obsolete syndromic genetic hearing loss subset: ordo_group_of_disorders {source="Orphanet:90642"} synonym: "syndromic genetic deafness" NARROW [] synonym: "syndromic hearing loss" BROAD [] xref: Orphanet:90642 {source="MONDO:obsoleteEquivalent"} xref: SCTID:232333009 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206426 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://identifiers.org/snomedct/232333009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206426 property_value: exactMatch Orphanet:90642 property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier", source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/551 xsd:anyURI is_obsolete: true consider: MONDO:0005365 [Term] id: MONDO:0019591 name: panhypopituitarism def: "Insufficient production of all the anterior pituitary hormones." [NCIT:P378] subset: ordo_disease {source="Orphanet:90695"} synonym: "complete hypopituitarism" EXACT [NCIT:C110940] synonym: "Simmond's disease" EXACT [DOID:9410] synonym: "Simmonds' disease" EXACT [DOID:9410] xref: DOID:9410 {source="MONDO:equivalentTo"} xref: ICD9:253.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9410"} xref: MedDRA:10033662 {source="Orphanet:90695", source="Orphanet:90695/e"} xref: NCIT:C110940 {source="MONDO:equivalentTo", source="DOID:9410"} xref: Orphanet:90695 {source="MONDO:equivalentTo"} xref: SCTID:32390006 {source="MONDO:equivalentTo", source="DOID:9410"} xref: UMLS:C0242343 {source="MONDO:equivalentTo", source="Orphanet:90695", source="DOID:9410", source="NCIT:C110940", source="Orphanet:90695/e"} is_a: MONDO:0013099 ! combined pituitary hormone deficiencies, genetic form property_value: closeMatch http://identifiers.org/meddra/10033662 property_value: exactMatch DOID:9410 property_value: exactMatch http://identifiers.org/snomedct/32390006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242343 property_value: exactMatch NCIT:C110940 property_value: exactMatch Orphanet:90695 [Term] id: MONDO:0019593 name: 46,XX disorder of sex development induced by fetal androgens excess comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:90776"} synonym: "46,XX DSD induced by fetal androgens excess" EXACT [Orphanet:90776] synonym: "46,XX DSD induced by foetal androgens excess" EXACT OMO:0003005 [] xref: Orphanet:90776 {source="MONDO:equivalentTo"} xref: UMLS:CN227655 {source="MONDO:equivalentTo"} is_a: EFO:0009549 {source="MONDO:Redundant", source="Orphanet:90776", source="Orphanet:90776/inferred"} ! female reproductive system disease is_a: MONDO:0020039 {source="Orphanet:90776"} ! 46,XX disorder of sex development induced by androgens excess relationship: has_characteristic MONDO:0021136 {source="MONDO:0015511", source="MONDO:0015513", source="MONDO:0015960", source="MONDO:0015980"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227655 property_value: exactMatch Orphanet:90776 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0019597 name: 46,XY disorder of sex development due to isolated 17,20-lyase deficiency def: "46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels." [Orphanet:90796] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: obsoletion_candidate subset: ordo_disease {source="Orphanet:90796"} xref: Orphanet:90796 {source="MONDO:equivalentTo"} xref: UMLS:CN206443 {source="MONDO:equivalentTo"} is_a: MONDO:0008730 ! congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206443 property_value: exactMatch Orphanet:90796 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0019599 name: primary lipodystrophy def: "Primary lipodystrophies represent a heterogeneous group of very rare diseases characterized by a generalized or localized loss of body fat (lipoatrophy)." [Orphanet:90970] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:90970"} xref: Orphanet:90970 {source="MONDO:equivalentTo"} is_a: MONDO:0019296 {source="Orphanet:90970"} ! subcutaneous tissue disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0015949"} ! rare property_value: exactMatch Orphanet:90970 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0019600 name: xeroderma pigmentosum def: "Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV)." [Orphanet:910] subset: gard_rare {source="GARD:0007910"} subset: ordo_disease {source="Orphanet:910"} synonym: "angioma pigmentosum atrophicum" EXACT [NCIT:C3452] synonym: "atrophoderma pigmentosum" EXACT [NCIT:C3452] synonym: "Kaposi dermatosis" EXACT [NCIT:C3452] synonym: "Kaposi disease" EXACT [NCIT:C3452] synonym: "melanosis lenticularis progressiva" EXACT [NCIT:C3452] synonym: "pigmented epitheliomatosis" EXACT [NCIT:C3452] synonym: "xeroderma of Kaposi" EXACT [NCIT:C3452] synonym: "xeroderma pigmentosa" RELATED [GARD:0007910] synonym: "xeroderma pigmentosum syndrome" EXACT [NCIT:C3452] synonym: "XP" EXACT ABBREVIATION [Orphanet:910] xref: DOID:0050427 {source="MONDO:equivalentTo"} xref: ICD10CM:Q82.1 {source="Orphanet:910", source="MONDO:equivalentTo", source="DOID:0050427", source="Orphanet:910/specific", source="Orphanet:910/e"} xref: MedDRA:10048220 {source="Orphanet:910", source="Orphanet:910/e"} xref: MESH:D014983 {source="Orphanet:910", source="MONDO:equivalentTo", source="DOID:0050427", source="Orphanet:910/e"} xref: NCIT:C3452 {source="MONDO:equivalentTo", source="DOID:0050427"} xref: Orphanet:910 {source="MONDO:equivalentTo", source="DOID:0050427"} xref: SCTID:44600005 {source="MONDO:equivalentTo", source="DOID:0050427"} xref: UMLS:C0043346 {source="Orphanet:910", source="MONDO:equivalentTo", source="NCIT:C3452", source="DOID:0050427", source="Orphanet:910/e"} is_a: EFO:0008499 {source="MESH:D014983", source="MONDO:Redundant", source="NCIT:C3452"} ! DNA repair deficiency is_a: MONDO:0015951 {source="Orphanet:910", source="PMID:27745641"} ! hereditary photodermatosis property_value: closeMatch http://identifiers.org/meddra/10048220 property_value: exactMatch DOID:0050427 property_value: exactMatch http://identifiers.org/mesh/D014983 property_value: exactMatch http://identifiers.org/snomedct/44600005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043346 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q82.1 property_value: exactMatch NCIT:C3452 property_value: exactMatch Orphanet:910 property_value: excluded_subClassOf MONDO:0015333 {source="Orphanet:910"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1567 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7910/xeroderma-pigmentosum xsd:anyURI {source="GARD:0007910"} [Term] id: MONDO:0019601 name: obsolete autosomal recessive axonal hereditary motor and sensory neuropathy def: "OBSOLETE. Autosomal recessive form of axonal hereditary motor and sensory neuropathy." [MONDO:patterns/autosomal_recessive] subset: ordo_group_of_disorders {source="Orphanet:91024"} synonym: "AR-CMT2" EXACT [Orphanet:91024] synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2" EXACT [Orphanet:91024] synonym: "axonal hereditary motor and sensory neuropathy, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] xref: Orphanet:91024 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206449 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206449 property_value: exactMatch Orphanet:91024 property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingHeritability"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI is_obsolete: true consider: MONDO:0005244 [Term] id: MONDO:0019602 name: obsolete other inborn metabolic disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:91088"} synonym: "other metabolic disease" RELATED [Orphanet:91088] xref: Orphanet:91088 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206450 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206450 property_value: exactMatch Orphanet:91088 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true [Term] id: MONDO:0019603 name: osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome def: "Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome is characterized by severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopaenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked." [Orphanet:91133] subset: ordo_malformation_syndrome {source="Orphanet:91133"} xref: Orphanet:91133 {source="MONDO:equivalentObsolete"} xref: SCTID:722111004 {source="MONDO:equivalentTo"} xref: UMLS:CN206455 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:91133"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://identifiers.org/snomedct/722111004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206455 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:91133"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0019609 name: Zellweger spectrum disorders def: "The most severe variant seen in the peroxisome biogenesis disorders that is characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." [Orphanet:912] comment: Curator note: this refers to the severe form of Zellweger spectrum, see https://github.com/monarch-initiative/mondo-build/issues/61 subset: ordo_disease {source="Orphanet:912"} synonym: "cerebrohepatorenal syndrome" EXACT [DOID:905, Orphanet:912] synonym: "congenital iron overload" EXACT [DOID:905] synonym: "Zellweger leukodystrophy" RELATED [GARD:0007917] synonym: "Zellweger spectrum disorders" EXACT [https://www.clinicalgenome.org/affiliation/40049/] synonym: "Zellweger syndrome" EXACT [https://github.com/monarch-initiative/mondo/issues/2632, https://www.clinicalgenome.org/affiliation/40049/, Orphanet:912] synonym: "ZS" EXACT ABBREVIATION [Orphanet:912] synonym: "ZWS" EXACT ABBREVIATION [GARD:0007917] xref: DOID:905 {source="MONDO:equivalentTo"} xref: ICD10CM:E71.510 {source="MONDO:equivalentTo", source="DOID:905"} xref: MESH:D015211 {source="MONDO:equivalentTo", source="Orphanet:912", source="DOID:905", source="Orphanet:912/e"} xref: NCIT:C85239 {source="MONDO:equivalentTo", source="DOID:905", source="https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/24"} xref: Orphanet:912 {source="MONDO:equivalentTo", source="DOID:905"} xref: SCTID:88469006 {source="MONDO:equivalentTo", source="DOID:905"} xref: UMLS:C0043459 {source="NCIT:C85239", source="MONDO:equivalentTo", source="Orphanet:912", source="DOID:905", source="Orphanet:912/e"} is_a: MONDO:0015327 {source="Orphanet:912"} ! developmental anomaly of metabolic origin is_a: MONDO:0019234 {source="NCIT:C85239", source="Orphanet:912"} ! peroxisome biogenesis disorder property_value: exactMatch DOID:905 property_value: exactMatch http://identifiers.org/mesh/D015211 property_value: exactMatch http://identifiers.org/snomedct/88469006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043459 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E71.510 property_value: exactMatch NCIT:C85239 property_value: exactMatch Orphanet:912 property_value: excluded_subClassOf MONDO:0005328 property_value: excluded_subClassOf MONDO:0019743 {source="Orphanet:912"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/pull/2571/ xsd:anyURI [Term] id: MONDO:0019611 name: TSH-secreting pituitary adenoma def: "A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism." [NCIT:C8011] subset: ordo_disease {source="Orphanet:91347"} synonym: "pituitary thyrotrophic adenoma" EXACT [Orphanet:91347] synonym: "thyroid stimulating hormone producing adenoma of pituitary" EXACT [NCIT:C8011] synonym: "thyroid stimulating hormone producing adenoma of pituitary gland" EXACT [NCIT:C8011] synonym: "thyroid stimulating hormone producing adenoma of the pituitary" EXACT [NCIT:C8011] synonym: "thyroid stimulating hormone producing adenoma of the pituitary gland" EXACT [NCIT:C8011] synonym: "thyroid stimulating hormone producing pituitary adenoma" EXACT [NCIT:C8011] synonym: "thyroid stimulating hormone producing pituitary gland adenoma" EXACT [NCIT:C8011] synonym: "thyroid stimulating hormone secreting adenoma of pituitary" EXACT [NCIT:C8011] synonym: "thyroid stimulating hormone secreting adenoma of pituitary gland" EXACT [NCIT:C8011] synonym: "thyroid stimulating hormone secreting adenoma of the pituitary" EXACT [NCIT:C8011] synonym: "thyroid stimulating hormone secreting adenoma of the pituitary gland" EXACT [NCIT:C8011] synonym: "thyroid stimulating hormone secreting pituitary adenoma" EXACT [NCIT:C8011] synonym: "thyroid stimulating hormone secreting pituitary gland adenoma" EXACT [NCIT:C8011] synonym: "thyroid stimulating hormone-producing adenoma" EXACT [NCIT:C8011] synonym: "thyroid stimulating hormone-secreting pituitary adenoma" EXACT [Orphanet:91347] synonym: "thyrotrope adenoma" EXACT [NCIT:C8011] synonym: "thyrotroph adenoma" EXACT [NCIT:C8011, Orphanet:91347] synonym: "thyrotrophic adenoma" EXACT [NCIT:C8011] synonym: "thyrotropin producing pituitary gland adenoma" EXACT [NCIT:C8011] synonym: "thyrotropinoma" EXACT [NCIT:C8011] synonym: "TSH producing adenoma of pituitary" EXACT [NCIT:C8011] synonym: "TSH producing adenoma of pituitary gland" EXACT [NCIT:C8011] synonym: "TSH producing adenoma of the pituitary" EXACT [NCIT:C8011] synonym: "TSH producing adenoma of the pituitary gland" EXACT [NCIT:C8011] synonym: "TSH producing pituitary adenoma" EXACT [NCIT:C8011] synonym: "TSH producing pituitary gland adenoma" EXACT [NCIT:C8011] synonym: "TSH secreting adenoma of pituitary" EXACT [NCIT:C8011] synonym: "TSH secreting adenoma of pituitary gland" EXACT [NCIT:C8011] synonym: "TSH secreting adenoma of the pituitary" EXACT [NCIT:C8011] synonym: "TSH secreting adenoma of the pituitary gland" EXACT [NCIT:C8011] synonym: "TSH secreting pituitary adenoma" EXACT [NCIT:C8011] synonym: "TSH secreting pituitary gland adenoma" EXACT [NCIT:C8011] synonym: "TSH-oma" EXACT [Orphanet:91347] synonym: "TSH-producing adenoma" EXACT [NCIT:C8011] synonym: "TSH-producing pituitary gland adenoma" EXACT [NCIT:C8011] synonym: "TSHoma" EXACT [NCIT:C8011] xref: ICD10CM:D35.2 {source="MONDO:relatedTo", source="Orphanet:91347/ntbt", source="Orphanet:91347"} xref: NCIT:C8011 {source="MONDO:equivalentObsolete"} xref: Orphanet:91347 {source="MONDO:equivalentTo"} xref: UMLS:C0346303 {source="NCIT:C8011", source="Orphanet:91347/e", source="MONDO:equivalentTo", source="Orphanet:91347"} is_a: MONDO:0003837 {source="NCIT:C8011"} ! TSH producing pituitary tumor property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346303 property_value: exactMatch Orphanet:91347 [Term] id: MONDO:0019619 name: duplication of the esophagus comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:91357"} xref: Orphanet:91357 {source="MONDO:equivalentTo"} is_a: MONDO:0015207 {source="Orphanet:91357"} ! non-syndromic esophageal malformation property_value: exactMatch Orphanet:91357 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0019620 name: congenital esophageal diverticulum def: "Congenital esophageal diverticulum is a rare, non-syndromic malformation of the esophagus, present at birth, and characterized by a false diverticulum, most often located in the upper, posterior esophagus. Many patients are asymptomatic, but respiratory distress, food regurgitation, dysphagia, chest pain, aspiration pneumonia and discomfort are typical presenting manifestations." [Orphanet:91358] subset: ordo_morphological_anomaly {source="Orphanet:91358"} synonym: "congenital esophageal pouch" EXACT [Orphanet:91358] xref: ICD9:750.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:91358 {source="MONDO:equivalentTo"} xref: SCTID:204667006 {source="MONDO:equivalentTo"} is_a: MONDO:0015207 {source="Orphanet:91358"} ! non-syndromic esophageal malformation relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch http://identifiers.org/snomedct/204667006 property_value: exactMatch Orphanet:91358 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0019623 name: hereditary angioedema def: "Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain." [Orphanet:91378] subset: ordo_disease {source="Orphanet:91378"} synonym: "angioedema, hereditary" RELATED [GARD:0005979] synonym: "deficiency of C1 esterase inhibitor" RELATED [GARD:0005979] synonym: "familial angioneurotic edema" EXACT [Orphanet:91378] synonym: "familial angioneurotic oedema" EXACT OMO:0003005 [] synonym: "HAE" EXACT ABBREVIATION [Orphanet:91378] synonym: "HANE" EXACT ABBREVIATION [DOID:14735] synonym: "hereditary angioedema" EXACT [DOID:14735, MONDO:patterns/hereditary] synonym: "hereditary angioneurotic edema" EXACT [Orphanet:91378] synonym: "hereditary angioneurotic oedema" EXACT OMO:0003005 [] synonym: "hereditary bradykinine-induced angioedema" EXACT [Orphanet:91378] synonym: "hereditary non histamine-induced angioedema" EXACT [Orphanet:91378] xref: DOID:14735 {source="MONDO:equivalentTo"} xref: MedDRA:10019860 {source="Orphanet:91378", source="Orphanet:91378/e"} xref: MESH:D054179 {source="DOID:14735", source="MONDO:equivalentTo"} xref: NCIT:C84758 {source="DOID:14735", source="MONDO:equivalentTo"} xref: OMIMPS:106100 {source="MONDO:equivalentTo"} xref: Orphanet:91378 {source="MONDO:equivalentTo"} xref: SCTID:82966003 {source="DOID:14735", source="MONDO:equivalentTo"} xref: UMLS:C0019243 {source="DOID:14735", source="NCIT:C84758", source="MONDO:equivalentTo", source="Orphanet:91378"} xref: UMLS:CN239191 {source="MONDO:equivalentTo"} is_a: EFO:0005532 {source="DOID:14735", source="MESH:D054179", source="MONDO:Redundant"} ! angioedema is_a: MONDO:0100118 ! hereditary skin disorder intersection_of: EFO:0005532 ! angioedema intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: closeMatch http://identifiers.org/meddra/10019860 property_value: exactMatch DOID:14735 property_value: exactMatch http://identifiers.org/mesh/D054179 property_value: exactMatch http://identifiers.org/snomedct/82966003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019243 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239191 property_value: exactMatch https://omim.org/phenotypicSeries/PS106100 property_value: exactMatch NCIT:C84758 property_value: exactMatch Orphanet:91378 [Term] id: MONDO:0019624 name: acquired angioedema def: "Acquired angioedema (AAE) is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain due to an acquired C1 inhibitor (C1-INH) deficiency." [Orphanet:91385] subset: gard_rare {source="GARD:0008605"} subset: ordo_disease {source="Orphanet:91385"} synonym: "AAE" EXACT ABBREVIATION [Orphanet:91385] synonym: "acquired angioedema" EXACT [MONDO:patterns/acquired] synonym: "acquired angioneurotic edema" EXACT [Orphanet:91385] synonym: "acquired angioneurotic oedema" EXACT OMO:0003005 [] synonym: "acquired bradykinine-induced angioedema" EXACT [Orphanet:91385] synonym: "acquired C1 inhibitor deficiency" EXACT [Orphanet:91385] synonym: "acquired non histamine-induced angioedema" EXACT [Orphanet:91385] synonym: "angioedema, acquired" RELATED [GARD:0008605] xref: DOID:0080941 {source="MONDO:equivalentTo"} xref: MESH:C538173 {source="Orphanet:91385", source="MONDO:equivalentTo", source="Orphanet:91385/e"} xref: Orphanet:91385 {source="MONDO:equivalentTo"} xref: UMLS:C2931758 {source="Orphanet:91385", source="MONDO:equivalentTo", source="Orphanet:91385/e"} is_a: EFO:0005532 {source="MESH:C538173"} ! angioedema intersection_of: EFO:0005532 ! angioedema intersection_of: has_characteristic MONDO:0021141 ! acquired relationship: has_characteristic MONDO:0021141 ! acquired property_value: exactMatch DOID:0080941 property_value: exactMatch http://identifiers.org/mesh/C538173 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931758 property_value: exactMatch Orphanet:91385 property_value: excluded_subClassOf MONDO:0019013 {source="Orphanet:91385"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8605/acquired-angioedema xsd:anyURI {source="GARD:0008605"} [Term] id: MONDO:0019625 name: familial thoracic aortic aneurysm and aortic dissection def: "A rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture." [Orphanet:91387] subset: gard_rare subset: ordo_disease {source="Orphanet:229", source="Orphanet:91387"} subset: prototype_pattern synonym: "annuloaortic ectasia" RELATED [Orphanet:229] synonym: "cystic medial necrosis of aorta" RELATED [Orphanet:229] synonym: "Erdheim cystic medial necrosis of aorta" RELATED [GARD:0001654] synonym: "Erdheim disease" EXACT [GARD:0001654, Orphanet:229] synonym: "familial aortic aneurysm" RELATED [GARD:0002249] synonym: "familial aortic dissection" EXACT [GARD:0001654, OMIMPS:607086, Orphanet:229] synonym: "familial TAAD" EXACT [Orphanet:91387] synonym: "familial thoracic aortic aneurysm" RELATED [GARD:0002249] synonym: "familial thoracic aortic aneurysm and aortic dissection" EXACT [] synonym: "familial thoracic aortic aneurysm and dissection" RELATED [GARD:0002249] synonym: "FTAAD" EXACT ABBREVIATION [] xref: ICD9:447.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIMPS:607086 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:91387 {source="MONDO:equivalentTo", source="OMIM:607086"} xref: SCTID:45894003 {source="MONDO:equivalentTo"} xref: SCTID:764965000 {source="MONDO:equivalentTo"} xref: UMLS:C0392775 {source="GARD:0001654", source="Orphanet:229", source="MONDO:equivalentTo", source="OMIM:607086"} xref: UMLS:CN118826 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0004264 {source="Orphanet:91387", source="https://orcid.org/0000-0001-5208-3432"} ! vascular disease relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch http://identifiers.org/snomedct/45894003 property_value: exactMatch http://identifiers.org/snomedct/764965000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0392775 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN118826 property_value: exactMatch https://omim.org/phenotypicSeries/PS607086 property_value: exactMatch Orphanet:91387 property_value: excluded_subClassOf MONDO:0017310 {source="Orphanet:91387"} [Term] id: MONDO:0019626 name: isolated ankyloblepharon filiforme adnatum def: "Isolated ankyloblepharon filiforme adnatum (AFA) is characterized by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors." [Orphanet:91397] subset: ordo_morphological_anomaly {source="Orphanet:91397"} xref: Orphanet:91397 {source="MONDO:equivalentTo"} xref: UMLS:C1302999 {source="MONDO:relatedTo", source="Orphanet:91397"} is_a: MONDO:0015217 {source="Orphanet:91397"} ! non-syndromic developmental defect of the eye is_a: MONDO:0020155 {source="Orphanet:91397"} ! eyelid border anomaly property_value: exactMatch Orphanet:91397 property_value: excluded_subClassOf MONDO:0015501 {source="Orphanet:91397"} [Term] id: MONDO:0019627 name: isolated congenital alacrima def: "Congenital alacrima is characterized by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth." [Orphanet:91416] subset: ordo_disease {source="Orphanet:91416"} synonym: "nonsyndromic congenital alacrima" EXACT [MONDO:patterns/isolated] xref: Orphanet:91416 {source="MONDO:equivalentTo"} xref: SCTID:717262004 {source="MONDO:equivalentTo"} xref: UMLS:C4273963 {source="MONDO:equivalentTo"} is_a: MONDO:0020194 {source="MONDO:Redundant", source="Orphanet:91416"} ! congenital alacrima intersection_of: MONDO:0020194 ! congenital alacrima intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation relationship: has_characteristic MONDO:0021128 ! has an isolated presentation property_value: exactMatch http://identifiers.org/snomedct/717262004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4273963 property_value: exactMatch Orphanet:91416 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0019628 name: Rieger anomaly def: "Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of AxenfeldBs anomaly." [Orphanet:91483] subset: ordo_morphological_anomaly {source="Orphanet:91483"} xref: MedDRA:10059198 {source="Orphanet:91483", source="Orphanet:91483/e"} xref: Orphanet:91483 {source="MONDO:equivalentTo"} is_a: MONDO:0011119 {source="Orphanet:91483"} ! iridogoniodysgenesis property_value: closeMatch http://identifiers.org/meddra/10059198 property_value: exactMatch Orphanet:91483 [Term] id: MONDO:0019629 name: sclerocornea def: "A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea." [DOID:0060252, http://en.wikipedia.org/wiki/Sclerocornea, PMID:3994576] subset: ordo_morphological_anomaly {source="Orphanet:91490"} synonym: "isolated congenital sclerocornea" EXACT [DOID:0060252] synonym: "sclerocornea" EXACT [MONDO:ambiguous] synonym: "sclerocornea (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0060252 {source="MONDO:equivalentTo"} xref: HP:0000647 {source="DOID:0060252", source="MONDO:otherHierarchy"} xref: MESH:C565209 {source="DOID:0060252", source="MONDO:equivalentTo"} xref: Orphanet:91490 {source="DOID:0060252", source="MONDO:equivalentTo"} is_a: MONDO:0020219 {source="Orphanet:91490"} ! corneogoniodysgenesis property_value: exactMatch DOID:0060252 property_value: exactMatch http://identifiers.org/mesh/C565209 property_value: exactMatch Orphanet:91490 property_value: IAO:0000589 "sclerocornea (disease)" xsd:string [Term] id: MONDO:0019630 name: congenital ectropion uveae def: "Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities." [Orphanet:91491] subset: ordo_malformation_syndrome {source="Orphanet:91491"} xref: ICD10CM:Q10.1 {source="Orphanet:91491", source="MONDO:relatedTo", source="Orphanet:91491/attributed", source="Orphanet:91491/ntbt"} xref: Orphanet:91491 {source="MONDO:equivalentTo"} is_a: MONDO:0011119 {source="Orphanet:91491"} ! iridogoniodysgenesis relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch Orphanet:91491 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0019631 name: persistent hyperplastic primary vitreous def: "A developmental ocular anomaly in which the primary vitreous body and its surrounding hyaloid vasculature failed to regress. It is usually unilateral and characterized by cataract; microphthalmos (small eyeballs), and retrolenticular fibrovascular tissue. (from Yanoff: Ophthalmology, 2nd ed.)" [MESH:D054514] subset: ordo_disease {source="Orphanet:91495"} synonym: "congenital retinal detachment" EXACT [Orphanet:91495] synonym: "ncRNA disease" EXACT [Orphanet:91495] synonym: "non-syndromic congenital retinal non-attachment" EXACT [Orphanet:91495] synonym: "persistent fetal vasculature syndrome" EXACT [Orphanet:91495] synonym: "persistent foetal vasculature syndrome" EXACT OMO:0003005 [] synonym: "PFVS" EXACT ABBREVIATION [Orphanet:91495] synonym: "PHPV" EXACT ABBREVIATION [Orphanet:91495] xref: DOID:0060282 {source="MONDO:equivalentTo"} xref: MESH:D054514 {source="Orphanet:91495", source="MONDO:equivalentTo", source="Orphanet:91495/e", source="DOID:0060282"} xref: NCIT:C161554 {source="MONDO:equivalentTo"} xref: OMIMPS:221900 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:91495 {source="MONDO:equivalentTo", source="DOID:0060282"} xref: SCTID:314270008 {source="MONDO:equivalentTo", source="DOID:0060282"} is_a: MONDO:0004860 {source="DOID:0060282"} ! vitreous disorder is_a: MONDO:0020247 {source="Orphanet:91495"} ! congenital vitreoretinal dysplasia property_value: exactMatch DOID:0060282 property_value: exactMatch http://identifiers.org/mesh/D054514 property_value: exactMatch http://identifiers.org/snomedct/314270008 property_value: exactMatch https://omim.org/phenotypicSeries/PS221900 property_value: exactMatch NCIT:C161554 property_value: exactMatch Orphanet:91495 [Term] id: MONDO:0019636 name: renal agenesis, unilateral def: "Unilateral renal agenesis (URA) is a form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter." [Orphanet:93100] subset: ordo_clinical_subtype {source="Orphanet:93100"} synonym: "congenital single kidney" EXACT [NCIT:C101220] synonym: "congenital solitary kidney" EXACT [NCIT:C101220] synonym: "unilateral renal agenesis" EXACT [NCIT:C101220] xref: ICD10CM:Q60.0 {source="Orphanet:93100", source="MONDO:equivalentTo", source="Orphanet:93100/e", source="Orphanet:93100/specific"} xref: MedDRA:10053624 {source="Orphanet:93100", source="Orphanet:93100/e"} xref: NCIT:C101220 {source="MONDO:equivalentTo"} xref: Orphanet:93100 {source="MONDO:equivalentTo"} xref: UMLS:C0266294 {source="Orphanet:93100", source="MONDO:equivalentTo", source="NCIT:C101220", source="Orphanet:93100/e"} is_a: MONDO:0018470 {source="NCIT:C101220", source="Orphanet:93100"} ! renal agenesis property_value: closeMatch http://identifiers.org/meddra/10053624 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266294 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q60.0 property_value: exactMatch NCIT:C101220 property_value: exactMatch Orphanet:93100 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0019637 name: renal hypoplasia def: "Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia, respectively) have a deficit in the number of nephrons and may be small. Oligomeganephronia represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied." [Orphanet:93101] subset: ordo_morphological_anomaly {source="Orphanet:93101"} synonym: "renal hypoplasia" EXACT [MONDO:ambiguous] synonym: "renal hypoplasia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0080204 {source="MONDO:equivalentTo"} xref: HP:0000089 {source="MONDO:otherHierarchy"} xref: MedDRA:10049102 {source="Orphanet:93101", source="Orphanet:93101/e"} xref: Orphanet:93101 {source="MONDO:equivalentTo", source="DOID:0080204"} xref: SCTID:32659003 {source="MONDO:equivalentTo"} is_a: MONDO:0019720 {source="Orphanet:93101"} ! non-syndromic renal or urinary tract malformation property_value: closeMatch http://identifiers.org/meddra/10049102 property_value: exactMatch DOID:0080204 property_value: exactMatch http://identifiers.org/snomedct/32659003 property_value: exactMatch Orphanet:93101 property_value: IAO:0000589 "renal hypoplasia (disease)" xsd:string [Term] id: MONDO:0019638 name: renal dysplasia def: "Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia." [Orphanet:93108] subset: ordo_morphological_anomaly {source="Orphanet:93108"} synonym: "renal dysplasia" EXACT [MONDO:ambiguous] synonym: "renal dysplasia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0000110 {source="MONDO:otherHierarchy"} xref: Orphanet:93108 {source="MONDO:equivalentTo"} is_a: MONDO:0019720 {source="Orphanet:93108"} ! non-syndromic renal or urinary tract malformation property_value: exactMatch Orphanet:93108 property_value: IAO:0000589 "renal dysplasia (disease)" xsd:string [Term] id: MONDO:0019640 name: posterior urethral valve def: "Posterior urethral valve (PUV) is the most common anomaly of fetal lower urinary tract obstruction (LUTO) and is characterized by an abnormal congenital obstructing membrane that is located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying." [Orphanet:93110] subset: ordo_morphological_anomaly {source="Orphanet:93110"} synonym: "congenital posterior urethral valves" EXACT [NCIT:C99021] synonym: "Posterior urethral valves" RELATED [GARD:0007439] synonym: "PUV" EXACT ABBREVIATION [Orphanet:93110] xref: ICD9:753.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10036369 {source="Orphanet:93110", source="Orphanet:93110/e"} xref: NCIT:C99021 {source="MONDO:equivalentTo"} xref: Orphanet:93110 {source="MONDO:equivalentTo"} xref: SCTID:253900005 {source="MONDO:equivalentTo"} xref: UMLS:C0238506 {source="Orphanet:93110", source="NCIT:C99021", source="MONDO:equivalentTo", source="Orphanet:93110/e"} xref: UMLS:CN227669 {source="MONDO:equivalentTo"} is_a: MONDO:0018559 {source="Orphanet:93110"} ! fetal lower urinary tract obstruction property_value: closeMatch http://identifiers.org/meddra/10036369 property_value: exactMatch http://identifiers.org/snomedct/253900005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238506 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227669 property_value: exactMatch NCIT:C99021 property_value: exactMatch Orphanet:93110 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0019642 name: vitamin D-dependent rickets, type 2 def: "Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia." [Orphanet:93160] comment: Editor note: ORDO uses dependent-vs-resistant to name types 2 and 1. NCIT seems to confuse type 2 with type 2A subset: ordo_disease {source="Orphanet:93160"} synonym: "hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal Vitamin D receptor" EXACT [NCIT:C131077] synonym: "hereditary vitamin D-resistant rickets" EXACT [Orphanet:93160] synonym: "HVDRR" EXACT ABBREVIATION [Orphanet:93160] synonym: "hypocalcemic vitamin D-resistant rickets" EXACT [Orphanet:93160] synonym: "VDDR II" EXACT [Orphanet:93160] synonym: "VDDR2" EXACT ABBREVIATION [NCIT:C131077] synonym: "VDRR II" EXACT [Orphanet:93160] synonym: "vitamin D dependent rickets 2" EXACT [NCIT:C131077] synonym: "vitamin D receptor deficiency" EXACT [NCIT:C131077] synonym: "vitamin D-dependent rickets type II" EXACT [Orphanet:93160] synonym: "vitamin D-dependent rickets, type 2" EXACT [MONDO:cjm] synonym: "vitamin D-resistant rickets type II" EXACT [Orphanet:93160] xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="Orphanet:93160/attributed", source="Orphanet:93160/ntbt", source="Orphanet:93160"} xref: NCIT:C131077 {source="MONDO:equivalentTo"} xref: Orphanet:93160 {source="MONDO:equivalentTo"} xref: SCTID:72831007 {source="MONDO:equivalentTo"} is_a: MONDO:0017323 {source="Orphanet:93160"} ! hypocalcemic rickets is_a: MONDO:0024299 {source="MONDO:cjm"} ! vitamin D-dependent rickets property_value: exactMatch http://identifiers.org/snomedct/72831007 property_value: exactMatch NCIT:C131077 property_value: exactMatch Orphanet:93160 [Term] id: MONDO:0019644 name: renal dysplasia, unilateral def: "Unilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." [Orphanet:93172] subset: ordo_clinical_subtype {source="Orphanet:93172"} synonym: "unilateral renal dysplasia" EXACT [HP:0008718] xref: HP:0008718 {source="MONDO:otherHierarchy"} xref: Orphanet:93172 {source="MONDO:equivalentTo"} is_a: MONDO:0019638 {source="Orphanet:93172"} ! renal dysplasia property_value: exactMatch Orphanet:93172 [Term] id: MONDO:0019645 name: renal dysplasia, bilateral def: "Bilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." [Orphanet:93173] subset: ordo_clinical_subtype {source="Orphanet:93173"} synonym: "bilateral renal dysplasia" EXACT [HP:0012582] xref: HP:0012582 {source="MONDO:otherHierarchy"} xref: Orphanet:93173 {source="MONDO:equivalentTo"} xref: SCTID:204950001 {source="MONDO:equivalentTo"} is_a: MONDO:0019638 {source="Orphanet:93173"} ! renal dysplasia property_value: exactMatch http://identifiers.org/snomedct/204950001 property_value: exactMatch Orphanet:93173 [Term] id: MONDO:0019648 name: achondrogenesis def: "Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2." [Orphanet:932] subset: gard_rare {source="GARD:0002882"} subset: ordo_disease {source="Orphanet:932"} xref: DOID:0080043 {source="MONDO:equivalentTo"} xref: ICD10CM:Q77.0 {source="Orphanet:932", source="MONDO:equivalentTo", source="Orphanet:932/specific", source="Orphanet:932/e"} xref: MedDRA:10066122 {source="Orphanet:932", source="Orphanet:932/e"} xref: MESH:C579878 {source="MONDO:equivalentTo"} xref: NCIT:C84527 {source="MONDO:equivalentTo"} xref: OMIMPS:200600 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:932 {source="MONDO:equivalentTo"} xref: SCTID:2391001 {source="MONDO:equivalentTo"} xref: UMLS:C0001079 {source="NCIT:C84527", source="Orphanet:932", source="MONDO:equivalentTo", source="Orphanet:932/e"} is_a: EFO:0005571 {source="DOID:0080043", source="MESH:C579878"} ! osteochondrodysplasia is_a: MONDO:0019694 {source="Orphanet:932"} ! spondylodysplastic dysplasia property_value: closeMatch http://identifiers.org/meddra/10066122 property_value: exactMatch DOID:0080043 property_value: exactMatch http://identifiers.org/mesh/C579878 property_value: exactMatch http://identifiers.org/snomedct/2391001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001079 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q77.0 property_value: exactMatch https://omim.org/phenotypicSeries/PS200600 property_value: exactMatch NCIT:C84527 property_value: exactMatch Orphanet:932 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2882/achondrogenesis xsd:anyURI {source="GARD:0002882"} [Term] id: MONDO:0019652 name: familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation subset: ordo_histopathological_subtype {source="Orphanet:93214"} xref: Orphanet:93214 {source="MONDO:equivalentObsolete"} xref: UMLS:CN206525 {source="MONDO:equivalentTo"} is_a: MONDO:0019006 {source="Orphanet:93214"} ! familial idiopathic steroid-resistant nephrotic syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206525 [Term] id: MONDO:0019653 name: familial idiopathic steroid-resistant nephrotic syndrome with minimal changes subset: ordo_histopathological_subtype {source="Orphanet:93216"} xref: Orphanet:93216 {source="MONDO:equivalentObsolete"} xref: UMLS:CN206526 {source="MONDO:equivalentTo"} is_a: MONDO:0019006 {source="Orphanet:93216"} ! familial idiopathic steroid-resistant nephrotic syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206526 [Term] id: MONDO:0019654 name: familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis subset: ordo_histopathological_subtype {source="Orphanet:93217"} xref: Orphanet:93217 {source="MONDO:equivalentObsolete"} xref: UMLS:CN206527 {source="MONDO:equivalentTo"} is_a: MONDO:0019006 {source="Orphanet:93217"} ! familial idiopathic steroid-resistant nephrotic syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206527 [Term] id: MONDO:0019655 name: sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis subset: ordo_histopathological_subtype {source="Orphanet:93218"} synonym: "sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis" EXACT [Orphanet:93218] xref: Orphanet:93218 {source="MONDO:equivalentObsolete"} xref: UMLS:CN206528 {source="MONDO:equivalentTo"} is_a: MONDO:0019401 {source="Orphanet:93218"} ! sporadic idiopathic steroid-resistant nephrotic syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206528 [Term] id: MONDO:0019656 name: sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis subset: ordo_histopathological_subtype {source="Orphanet:93220"} xref: Orphanet:93220 {source="MONDO:equivalentObsolete"} xref: UMLS:CN206529 {source="MONDO:equivalentTo"} is_a: MONDO:0019401 {source="Orphanet:93220"} ! sporadic idiopathic steroid-resistant nephrotic syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206529 [Term] id: MONDO:0019659 name: Pfeiffer syndrome type 1 def: "Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development." [Orphanet:93258] subset: ordo_clinical_subtype {source="Orphanet:93258"} synonym: "classic Pfeiffer syndrome" EXACT [Orphanet:93258] synonym: "Pfeiffer syndrome type 1" EXACT [] xref: Orphanet:93258 {source="MONDO:equivalentTo"} xref: UMLS:CN206533 {source="MONDO:equivalentTo"} is_a: MONDO:0007043 {source="Orphanet:93258"} ! Pfeiffer syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206533 property_value: exactMatch Orphanet:93258 [Term] id: MONDO:0019660 name: Pfeiffer syndrome type 2 def: "Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities." [Orphanet:93259] subset: ordo_clinical_subtype {source="Orphanet:93259"} xref: Orphanet:93259 {source="MONDO:equivalentTo"} xref: UMLS:CN206534 {source="MONDO:equivalentTo"} is_a: MONDO:0007043 {source="Orphanet:93259"} ! Pfeiffer syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206534 property_value: exactMatch Orphanet:93259 [Term] id: MONDO:0019661 name: Pfeiffer syndrome type 3 def: "Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities." [Orphanet:93260] subset: ordo_clinical_subtype {source="Orphanet:93260"} xref: Orphanet:93260 {source="MONDO:equivalentTo"} xref: UMLS:CN206535 {source="MONDO:equivalentTo"} is_a: MONDO:0007043 {source="Orphanet:93260"} ! Pfeiffer syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206535 property_value: exactMatch Orphanet:93260 [Term] id: MONDO:0019662 name: short rib-polydactyly syndrome, Majewski type subset: ordo_malformation_syndrome {source="Orphanet:93269"} synonym: "polydactyly with neonatal chondrodystrophy type 2" RELATED [GARD:0004833] synonym: "short rib-polydactyly syndrome Majewski type" RELATED [GARD:0004833] synonym: "short rib-polydactyly syndrome type 2" EXACT [Orphanet:93269] synonym: "SRPS type 2" RELATED [GARD:0004833] xref: ICD9:756.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:93269 {source="MONDO:equivalentTo"} xref: SCTID:72922008 {source="MONDO:equivalentTo"} is_a: MONDO:0015461 {source="Orphanet:93269"} ! short rib-polydactyly syndrome property_value: exactMatch http://identifiers.org/snomedct/72922008 property_value: exactMatch Orphanet:93269 [Term] id: MONDO:0019663 name: obsolete short rib-polydactyly syndrome, Saldino-Noonan type property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1376 xsd:anyURI is_obsolete: true replaced_by: MONDO:0013127 [Term] id: MONDO:0019664 name: obsolete short rib-polydactyly syndrome, Verma-Naumoff type property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4148 xsd:anyURI is_obsolete: true replaced_by: MONDO:0013127 [Term] id: MONDO:0019665 name: monostotic fibrous dysplasia def: "Fibrous dysplasia of bone involving only one bone." [MESH:D005358] subset: ordo_clinical_subtype {source="Orphanet:93277"} synonym: "Jaffe-Lichtenstein disease" EXACT [Orphanet:93277] synonym: "monostotic fibrous dysplasia" EXACT [MONDO:ambiguous] synonym: "monostotic fibrous dysplasia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "monostotic fibrous dysplasia of bone" EXACT [NCIT:C53971] xref: HP:0010736 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q78.1 {source="Orphanet:93277/attributed", source="Orphanet:93277/ntbt", source="MONDO:directSiblingOf"} xref: ICD9:733.29 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D005358 {source="Orphanet:93277", source="MONDO:equivalentTo", source="Orphanet:93277/e"} xref: NCIT:C53971 {source="MONDO:equivalentTo"} xref: Orphanet:93277 {source="MONDO:equivalentTo"} xref: SCTID:89859004 {source="MONDO:equivalentTo"} xref: UMLS:C0016064 {source="Orphanet:93277", source="MONDO:equivalentTo", source="NCIT:C53971", source="Orphanet:93277/e"} is_a: MONDO:0000845 {source="MESH:D005358", source="Orphanet:93277"} ! fibrous dysplasia property_value: exactMatch http://identifiers.org/mesh/D005358 property_value: exactMatch http://identifiers.org/snomedct/89859004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016064 property_value: exactMatch NCIT:C53971 property_value: exactMatch Orphanet:93277 property_value: IAO:0000589 "monostotic fibrous dysplasia (disease)" xsd:string [Term] id: MONDO:0019666 name: spondyloepimetaphyseal dysplasia, PAPSS2 type def: "A spondyloepimetaphyseal dysplasia characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence." [https://orcid.org/0000-0001-5208-3432, Orphanet:93282] subset: ordo_disease {source="Orphanet:93282"} synonym: "BCYM4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612847] synonym: "brachyolmia 4 with mild epiphyseal and metaphyseal changes" EXACT [OMIM:612847, OMIM:genemap2] synonym: "brachyolmia type 4 with mild epiphyseal and metaphyseal changes" RELATED [MONDO:Lexical, OMIM:612847] synonym: "SEMD, Pakistani type" RELATED [OMIM:612847] synonym: "spondylodysplasia and premature pubarche" RELATED [OMIM:612847] synonym: "spondyloepimetaphyseal dysplasia Pakistani type" EXACT [DOID:0050812] synonym: "spondyloepimetaphyseal dysplasia, Pakistani type" EXACT [OMIM:612847, Orphanet:93282] xref: DOID:0050812 {source="MONDO:equivalentTo"} xref: OMIM:612847 {source="MONDO:equivalentTo", source="Orphanet:93282/ntbt", source="DOID:0050812", source="Orphanet:93282"} xref: Orphanet:93282 {source="MONDO:equivalentTo", source="OMIM:612847"} xref: SCTID:719172003 {source="MONDO:equivalentTo"} is_a: MONDO:0019688 {source="Orphanet:93282", source="PMID:31633310"} ! sulfation-related bone disorder is_a: MONDO:0100510 {source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia property_value: exactMatch DOID:0050812 property_value: exactMatch http://identifiers.org/snomedct/719172003 property_value: exactMatch https://omim.org/entry/612847 property_value: exactMatch Orphanet:93282 property_value: excluded_subClassOf MONDO:0016761 {source="DOID:0050812", source="Orphanet:93282"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5280 xsd:anyURI [Term] id: MONDO:0019667 name: spondyloepiphyseal dysplasia tarda def: "Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest." [Orphanet:93284] subset: ordo_disease {source="Orphanet:93284"} xref: DOID:0112284 {source="MONDO:equivalentTo"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:93284 {source="MONDO:equivalentTo"} xref: SCTID:51952004 {source="MONDO:equivalentTo"} is_a: MONDO:0016761 {source="Orphanet:93284"} ! spondyloepiphyseal dysplasia property_value: exactMatch DOID:0112284 property_value: exactMatch http://identifiers.org/snomedct/51952004 property_value: exactMatch Orphanet:93284 [Term] id: MONDO:0019669 name: hypochondrogenesis subset: ordo_clinical_subtype {source="Orphanet:93297"} xref: DOID:0080044 {source="MONDO:equivalentTo"} xref: MESH:C563007 {source="MONDO:equivalentTo"} xref: Orphanet:93297 {source="MONDO:equivalentTo"} is_a: MONDO:0019648 {source="Orphanet:93297"} ! achondrogenesis is_a: MONDO:0022800 {source="Orphanet:93297"} ! type 2 collagenopathy property_value: exactMatch DOID:0080044 property_value: exactMatch http://identifiers.org/mesh/C563007 property_value: exactMatch Orphanet:93297 [Term] id: MONDO:0019670 name: ulnar hemimelia def: "Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone." [Orphanet:93320] subset: ordo_morphological_anomaly {source="Orphanet:93320"} synonym: "congenital longitudinal deficiency of the ulna" EXACT [Orphanet:93320] synonym: "ulnar clubhand" EXACT [Orphanet:93320] synonym: "ulnar longitudinal meromelia" EXACT [Orphanet:93320] xref: ICD9:755.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:93320 {source="MONDO:equivalentTo"} xref: SCTID:21893008 {source="MONDO:equivalentTo"} is_a: MONDO:0016240 {source="Orphanet:93320"} ! hemimelia property_value: exactMatch http://identifiers.org/snomedct/21893008 property_value: exactMatch Orphanet:93320 [Term] id: MONDO:0019671 name: radial hemimelia def: "Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius." [Orphanet:93321] subset: ordo_morphological_anomaly {source="Orphanet:93321"} synonym: "congenital longitudinal deficiency of the radius" EXACT [Orphanet:93321] synonym: "radial clubhand" EXACT [Orphanet:93321] synonym: "radial longitidinal meromelia" EXACT [Orphanet:93321] synonym: "radial ray agenesis" EXACT [Orphanet:93321] xref: ICD9:755.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:93321 {source="MONDO:equivalentTo"} xref: SCTID:48008009 {source="MONDO:equivalentTo"} is_a: MONDO:0016240 {source="Orphanet:93321"} ! hemimelia property_value: exactMatch http://identifiers.org/snomedct/48008009 property_value: exactMatch Orphanet:93321 [Term] id: MONDO:0019672 name: fibular hemimelia def: "Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone." [Orphanet:93323] subset: ordo_morphological_anomaly {source="Orphanet:93323"} synonym: "congenital longitudinal deficiency of the fibula" EXACT [Orphanet:93323] synonym: "fibular longitudinal meromelia" EXACT [Orphanet:93323] xref: Orphanet:93323 {source="MONDO:equivalentTo"} is_a: MONDO:0016240 {source="Orphanet:93323"} ! hemimelia property_value: exactMatch Orphanet:93323 [Term] id: MONDO:0019673 name: postaxial polydactyly type A subset: ordo_morphological_anomaly {source="Orphanet:93334"} synonym: "PAPA" EXACT ABBREVIATION [MONDO:cjm] synonym: "postaxial polydactyly type A" EXACT [MONDO:ambiguous] synonym: "postaxial polydactyly type A (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0005696 {source="MONDO:otherHierarchy"} xref: Orphanet:93334 {source="MONDO:equivalentTo"} xref: SCTID:715704001 {source="MONDO:equivalentTo"} xref: UMLS:C3887487 {source="MONDO:equivalentTo", source="Orphanet:93334"} is_a: MONDO:0020927 {source="https://orcid.org/0000-0001-5208-3432"} ! postaxial polydactyly property_value: exactMatch http://identifiers.org/snomedct/715704001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3887487 property_value: exactMatch Orphanet:93334 property_value: excluded_subClassOf MONDO:0017426 {source="Orphanet:93334"} property_value: IAO:0000589 "postaxial polydactyly type A (disease)" xsd:string [Term] id: MONDO:0019674 name: postaxial polydactyly type B subset: ordo_morphological_anomaly {source="Orphanet:93335"} synonym: "PAPB" EXACT ABBREVIATION [MONDO:cjm, OMIM:174200] xref: Orphanet:93335 {source="MONDO:equivalentTo"} xref: SCTID:715707008 {source="MONDO:equivalentTo"} xref: UMLS:C1868120 {source="MONDO:equivalentTo", source="Orphanet:93335"} is_a: MONDO:0020927 {source="https://orcid.org/0000-0001-5208-3432"} ! postaxial polydactyly property_value: exactMatch http://identifiers.org/snomedct/715707008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868120 property_value: exactMatch Orphanet:93335 property_value: excluded_subClassOf MONDO:0017426 {source="Orphanet:93335"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5507 xsd:anyURI [Term] id: MONDO:0019675 name: spondyloepimetaphyseal dysplasia with joint laxity def: "A form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment." [PMID:12784311] subset: gard_rare subset: ordo_disease {source="Orphanet:93359"} synonym: "SEMD-JL" EXACT [Orphanet:93359] synonym: "SEMDJL" EXACT ABBREVIATION [GARD:0004982] synonym: "SEMDJL1" NARROW ABBREVIATION [Orphanet:93359] synonym: "spondyloepimetaphyseal dysplasia joint laxity" RELATED [GARD:0004982] synonym: "spondyloepimetaphyseal dysplasia with joint laxity" EXACT [GARD:0004982] synonym: "spondyloepimetaphyseal dysplasia with joint laxity type 1" NARROW [Orphanet:93359] synonym: "spondyloepimetaphyseal dysplasia with joint laxity, Beighton type" NARROW [Orphanet:93359] xref: DOID:0112197 {source="MONDO:equivalentTo"} xref: ICD9:719.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562968 {source="MONDO:equivalentTo"} xref: OMIMPS:271640 {source="MONDO:equivalentTo"} xref: Orphanet:93359 {source="GARD:0004982", source="MONDO:equivalentTo", source="DOID:0112197"} xref: SCTID:254100000 {source="MONDO:equivalentTo"} is_a: MONDO:0100510 {source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia property_value: exactMatch DOID:0112197 property_value: exactMatch http://identifiers.org/mesh/C562968 property_value: exactMatch http://identifiers.org/snomedct/254100000 property_value: exactMatch https://omim.org/phenotypicSeries/PS271640 property_value: exactMatch Orphanet:93359 property_value: excluded_subClassOf MONDO:0016761 {source="DOID:0112197", source="Orphanet:93359"} property_value: excluded_subClassOf MONDO:0017742 {source="Orphanet:93359"} property_value: excluded_subClassOf MONDO:0018292 {source="Orphanet:93359"} property_value: excluded_subClassOf MONDO:0018293 {source="Orphanet:93359"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5280 xsd:anyURI [Term] id: MONDO:0019676 name: brachydactyly type B def: "A condition characterized by incomplete development (hypoplasia) or absence of the outermost bones of the fingers and toes (distal phalanges) and nails. Additional features may include hypoplasia of the middle phalanges, fusion of the joints (symphalangism), broad thumbs, and webbed fingers (syndactyly). The feet are often less severely affected than the hands. There are 2 types of this condition, designated as type 1 and 2. BDB type 1 is caused by mutations in the ROR2 gene. BDB type 2 is caused by mutations in the NOG gene. Inheritance of both types is autosomal dominant. Treatment may include surgery if the condition affects hand function, or for cosmetic reasons." [GARD:0000985] subset: ordo_malformation_syndrome {source="Orphanet:93383"} xref: Orphanet:93383 {source="MONDO:equivalentTo"} xref: SCTID:389168002 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5493-2602"} xref: UMLS:C1300267 {source="Orphanet:93383", source="MONDO:equivalentTo", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93383/e", source="https://orcid.org/0000-0001-5493-2602"} is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly property_value: exactMatch http://identifiers.org/snomedct/389168002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1300267 property_value: exactMatch Orphanet:93383 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3709 xsd:anyURI [Term] id: MONDO:0019677 name: brachydactyly type E def: "Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short." [Orphanet:93387] subset: ordo_malformation_syndrome {source="Orphanet:93387"} synonym: "type E brachydactyly" RELATED [GARD:0000987] xref: Orphanet:93387 {source="MONDO:equivalentTo"} is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly property_value: exactMatch Orphanet:93387 [Term] id: MONDO:0019678 name: brachydactyly type A5 def: "Brachydactyly type A5 (BDA5) is a very rare congenital malformation of the digits characterized by absence of the middle phalanges (usually of digits 2 to 5), nail dysplasia and duplicated terminal phalanx of the thumb." [Orphanet:93389] subset: gard_rare {source="GARD:0000982"} subset: ordo_malformation_syndrome {source="Orphanet:93389"} synonym: "absent middle phalanges of digits 2-5 with nail dysplasia" RELATED [GARD:0000982] synonym: "brachydactyly type A5 nail dysplasia" RELATED [GARD:0000982] synonym: "brachydactyly with absence of middle phalanges and hypoplastic nails" RELATED [GARD:0000982] xref: MESH:C537091 {source="MONDO:equivalentTo"} xref: OMIM:112900 {source="MONDO:equivalentObsolete", source="GARD:0000982"} xref: Orphanet:93389 {source="MONDO:equivalentObsolete"} xref: SCTID:720570007 {source="MONDO:equivalentTo"} xref: UMLS:C1862138 {source="MONDO:equivalentTo", source="Orphanet:93389"} is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly property_value: exactMatch http://identifiers.org/mesh/C537091 property_value: exactMatch http://identifiers.org/snomedct/720570007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862138 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/982/brachydactyly-type-a5 xsd:anyURI {source="GARD:0000982"} [Term] id: MONDO:0019679 name: brachydactyly type A7 def: "Brachydactyly type A7 (Smorgasbord type) is a form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features." [Orphanet:93397] subset: gard_rare {source="GARD:0000984"} subset: ordo_malformation_syndrome {source="Orphanet:93397"} synonym: "brachydactyly Smorgasbord type" RELATED [GARD:0000984] synonym: "brachydactyly, Smorgasbord type" EXACT [Orphanet:93397] xref: Orphanet:93397 {source="MONDO:equivalentTo"} xref: SCTID:720571006 {source="MONDO:equivalentTo"} xref: UMLS:CN206603 {source="MONDO:equivalentTo"} is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly property_value: exactMatch http://identifiers.org/snomedct/720571006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206603 property_value: exactMatch Orphanet:93397 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/984/brachydactyly-type-a7 xsd:anyURI {source="GARD:0000984"} [Term] id: MONDO:0019680 name: genochondromatosis type 2 def: "Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign." [Orphanet:93398] subset: ordo_disease {source="Orphanet:93398"} xref: Orphanet:93398 {source="MONDO:equivalentTo"} xref: SCTID:725904009 {source="MONDO:equivalentTo"} xref: UMLS:C4511481 {source="MONDO:equivalentTo"} xref: UMLS:CN206604 {source="MONDO:equivalentTo"} is_a: MONDO:0007653 {source="https://orcid.org/0000-0001-5208-3432"} ! genochondromatosis property_value: exactMatch http://identifiers.org/snomedct/725904009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4511481 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206604 property_value: exactMatch Orphanet:93398 property_value: excluded_subClassOf MONDO:0019708 {source="Orphanet:93398"} [Term] id: MONDO:0019681 name: juvenile sialidosis type 2 subset: ordo_clinical_subtype {source="Orphanet:93399"} synonym: "dysmorphic sialidosis, juvenile form" EXACT [] xref: Orphanet:93399 {source="MONDO:equivalentTo"} xref: SCTID:111383007 {source="MONDO:equivalentTo"} xref: UMLS:C0268229 {source="MONDO:equivalentTo"} xref: UMLS:CN206605 {source="MONDO:equivalentTo"} is_a: MONDO:0009738 {source="Orphanet:93399"} ! sialidosis type 2 property_value: exactMatch http://identifiers.org/snomedct/111383007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268229 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206605 property_value: exactMatch Orphanet:93399 [Term] id: MONDO:0019682 name: congenital sialidosis type 2 subset: ordo_clinical_subtype {source="Orphanet:93400"} xref: Orphanet:93400 {source="MONDO:equivalentTo"} is_a: MONDO:0009738 {source="Orphanet:93400"} ! sialidosis type 2 property_value: exactMatch Orphanet:93400 [Term] id: MONDO:0019683 name: obsolete syndactyly type 2 property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3919 xsd:anyURI is_obsolete: true replaced_by: MONDO:0021651 [Term] id: MONDO:0019685 name: FGFR3-related chondrodysplasia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:93420"} xref: Orphanet:93420 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia property_value: exactMatch Orphanet:93420 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0019688 name: sulfation-related bone disorder comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:93423"} synonym: "inborn error of sulphation" EXACT [MONDO:patterns/inborn_metabolic_disrupts] synonym: "sulphation disorder" EXACT [PMID:31633310] xref: Orphanet:93423 {source="MONDO:equivalentTo"} xref: UMLS:CN227674 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia is_a: MONDO:0019052 ! inborn errors of metabolism is_a: MONDO:0056803 ! sulfur metabolism disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227674 property_value: exactMatch Orphanet:93423 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0019689 name: perlecan-related bone disorder comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:93424"} xref: Orphanet:93424 {source="MONDO:equivalentTo"} xref: UMLS:CN227675 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227675 property_value: exactMatch Orphanet:93424 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0019690 name: filamin-related bone disorder subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:93425"} synonym: "bone filaminopathy" EXACT [Orphanet:93425] xref: Orphanet:93425 {source="MONDO:equivalentTo"} xref: UMLS:CN227676 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227676 property_value: exactMatch Orphanet:93425 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0019691 name: short rib dysplasia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:93426"} synonym: "ciliopathies with major skeletal involvement" RELATED [Orphanet:93426] synonym: "short-rib dysplasia (with or without polydactyly)" EXACT [Orphanet:93426] synonym: "SRP" EXACT ABBREVIATION [Orphanet:93426] xref: ICD9:756.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:93426 {source="MONDO:equivalentTo"} xref: SCTID:254050009 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="Orphanet:93426", source="PMID:31633310"} ! skeletal dysplasia property_value: exactMatch http://identifiers.org/snomedct/254050009 property_value: exactMatch Orphanet:93426 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0019692 name: multiple epiphyseal dysplasia and pseudoachondroplasia comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:93429"} xref: Orphanet:93429 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="Orphanet:93429", source="PMID:31633310"} ! skeletal dysplasia property_value: exactMatch Orphanet:93429 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0019693 name: multiple metaphyseal dysplasia comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:93430"} xref: Orphanet:93430 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="Orphanet:93430", source="PMID:31633310"} ! skeletal dysplasia property_value: exactMatch Orphanet:93430 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0019694 name: spondylodysplastic dysplasia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:93434"} xref: Orphanet:93434 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="Orphanet:93434"} ! skeletal dysplasia property_value: exactMatch Orphanet:93434 [Term] id: MONDO:0019695 name: acromelic dysplasia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:93436"} xref: Orphanet:93436 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="Orphanet:93436", source="PMID:31633310"} ! skeletal dysplasia property_value: exactMatch Orphanet:93436 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0019696 name: acromesomelic dysplasia def: "A group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type" [GARD:0000006, https://orcid.org/0000-0001-5208-3432] subset: disease_grouping subset: gard_rare subset: ordo_group_of_disorders {source="Orphanet:93437"} synonym: "acromesomelic dwarfism" RELATED [GARD:0000006] xref: DOID:0080049 {source="MONDO:equivalentTo"} xref: MESH:C535658 {source="Orphanet:93437/e", source="MONDO:equivalentTo", source="Orphanet:93437"} xref: OMIMPS:602875 {source="MONDO:equivalentTo"} xref: Orphanet:93437 {source="GARD:0000006", source="MONDO:equivalentTo"} is_a: EFO:0005571 {source="DOID:0080049", source="MESH:C535658"} ! osteochondrodysplasia is_a: MONDO:0018230 {source="Orphanet:93437", source="PMID:31633310"} ! skeletal dysplasia property_value: exactMatch DOID:0080049 property_value: exactMatch http://identifiers.org/mesh/C535658 property_value: exactMatch https://omim.org/phenotypicSeries/PS602875 property_value: exactMatch Orphanet:93437 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0019697 name: mesomelic and rhizo-mesomelic dysplasia comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:93438"} xref: Orphanet:93438 {source="MONDO:equivalentTo"} xref: UMLS:CN229208 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="Orphanet:93438", source="PMID:31633310"} ! skeletal dysplasia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229208 property_value: exactMatch Orphanet:93438 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0019698 name: bent bone dysplasia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:93439"} synonym: "campomelic dysplasia and related disorders" RELATED [Orphanet:93439] xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:93439 {source="MONDO:equivalentTo"} xref: SCTID:254095002 {source="MONDO:equivalentTo"} xref: UMLS:C0432238 {source="Orphanet:93439/e", source="MONDO:equivalentTo", source="Orphanet:93439"} is_a: MONDO:0018230 {source="Orphanet:93439", source="PMID:31633310"} ! skeletal dysplasia property_value: exactMatch http://identifiers.org/snomedct/254095002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432238 property_value: exactMatch Orphanet:93439 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0019699 name: slender bone dysplasia comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:93440"} xref: Orphanet:93440 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="Orphanet:93440"} ! skeletal dysplasia property_value: exactMatch Orphanet:93440 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0019701 name: chondrodysplasia punctata def: "A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis." [NCIT:P378] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:93442"} synonym: "CDP" EXACT ABBREVIATION [Orphanet:93442] synonym: "chondrodysplasia calcificans congenita" EXACT [DOID:2581] synonym: "chondrodysplasia punctata (stippled epiphyses) Group" EXACT [NCIT:C84632] synonym: "chondrodysplasia punctata congenita" EXACT [DOID:2581] xref: DOID:2581 {source="MONDO:equivalentTo"} xref: ICD10CM:Q77.3 {source="Orphanet:93442", source="MONDO:equivalentTo", source="Orphanet:93442/specific", source="Orphanet:93442/e", source="DOID:2581"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D002806 {source="Orphanet:93442", source="MONDO:equivalentTo", source="Orphanet:93442/e", source="DOID:2581"} xref: NCIT:C84632 {source="MONDO:equivalentTo", source="DOID:2581"} xref: Orphanet:93442 {source="MONDO:equivalentTo"} xref: SCTID:360507004 {source="MONDO:equivalentTo", source="DOID:2581"} xref: UMLS:C0008445 {source="Orphanet:93442", source="MONDO:equivalentTo", source="Orphanet:93442/e", source="DOID:2581", source="NCIT:C84632"} is_a: MONDO:0018230 {source="Orphanet:93442", source="PMID:31633310"} ! skeletal dysplasia property_value: exactMatch DOID:2581 property_value: exactMatch http://identifiers.org/mesh/D002806 property_value: exactMatch http://identifiers.org/snomedct/360507004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008445 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q77.3 property_value: exactMatch NCIT:C84632 property_value: exactMatch Orphanet:93442 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0019702 name: neonatal osteosclerotic dysplasia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:93443"} xref: Orphanet:93443 {source="MONDO:equivalentTo"} xref: SCTID:389236000 {source="MONDO:equivalentTo"} xref: UMLS:C1300205 {source="Orphanet:93443", source="MONDO:equivalentTo", source="Orphanet:93443/e"} is_a: EFO:0005571 ! osteochondrodysplasia is_a: MONDO:0018230 {source="Orphanet:93443", source="PMID:31633310"} ! skeletal dysplasia property_value: exactMatch http://identifiers.org/snomedct/389236000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1300205 property_value: exactMatch Orphanet:93443 property_value: excluded_subClassOf MONDO:0019703 {source="Orphanet:93443"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0019707 name: primary osteolysis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:93449"} xref: Orphanet:93449 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="Orphanet:93449", source="PMID:31633310"} ! skeletal dysplasia property_value: exactMatch Orphanet:93449 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0019712 name: patellar dysostosis comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:93455"} xref: Orphanet:93455 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia is_a: MONDO:0018454 {source="Orphanet:93455"} ! dysostosis of genetic origin property_value: exactMatch Orphanet:93455 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0019713 name: non-syndromic limb reduction defect comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:93457"} synonym: "isolated limb reduction defect" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "non-syndromic limb hypoplasia" EXACT [Orphanet:93457] synonym: "nonsyndromic limb reduction defect" EXACT [https://orcid.org/0000-0002-6601-2165] xref: Orphanet:93457 {source="MONDO:equivalentTo"} is_a: MONDO:0015227 {source="Orphanet:93457"} ! non-syndromic limb malformation is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin property_value: exactMatch Orphanet:93457 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0019714 name: non-syndromic polydactyly, syndactyly and/or hyperphalangy comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:93458"} synonym: "isolated polydactyly, syndactyly and/or hyperphalangy" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "nonsyndromic polydactyly, syndactyly and/or hyperphalangy" EXACT [https://orcid.org/0000-0002-6601-2165] xref: Orphanet:93458 {source="MONDO:equivalentTo"} is_a: MONDO:0015227 {source="Orphanet:93458"} ! non-syndromic limb malformation is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin property_value: exactMatch Orphanet:93458 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0019716 name: overgrowth syndrome def: "A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome." [NCIT:C94828] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:93460"} xref: NCIT:C94828 {source="MONDO:equivalentTo"} xref: Orphanet:93460 {source="MONDO:equivalentTo"} xref: UMLS:C2986703 {source="MONDO:equivalentTo", source="NCIT:C94828"} xref: UMLS:CN206621 {source="MONDO:equivalentTo"} is_a: MONDO:0015330 {source="Orphanet:93460"} ! overgrowth/obesity syndrome relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2986703 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206621 property_value: exactMatch NCIT:C94828 property_value: exactMatch Orphanet:93460 [Term] id: MONDO:0019718 name: lethal chondrodysplasia comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:93465"} xref: Orphanet:93465 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="Orphanet:93465"} ! skeletal dysplasia property_value: exactMatch Orphanet:93465 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0019719 name: congenital anomaly of kidney and urinary tract def: "A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux." [DOID:0080205, PMID:25313840] subset: clingen subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:93545"} synonym: "CAKUT" EXACT ABBREVIATION [Orphanet:93545] synonym: "congenital anomalies of kidney and urinary tract" EXACT [Orphanet:93545] synonym: "congenital anomalies of the kidney and urinary tract" EXACT [DOID:0080205] synonym: "congenital anomaly of kidney and urinary tract" EXACT [] synonym: "renal or urinary tract malformation" EXACT [DOID:0080205] xref: DOID:0080205 {source="MONDO:equivalentTo"} xref: MESH:C566906 {source="MONDO:equivalentTo"} xref: OMIMPS:610805 {source="MONDO:cjm", source="MONDO:equivalentTo", source="DOID:0080205"} xref: Orphanet:93545 {source="MONDO:equivalentTo", source="DOID:0080205"} xref: UMLS:C1968949 {source="MONDO:equivalentTo", source="Orphanet:93545"} is_a: MONDO:0019755 {source="Orphanet:93545"} ! developmental defect during embryogenesis is_a: MONDO:0100191 ! inherited kidney disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0019750"} ! rare property_value: exactMatch DOID:0080205 property_value: exactMatch http://identifiers.org/mesh/C566906 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1968949 property_value: exactMatch https://omim.org/phenotypicSeries/PS610805 property_value: exactMatch Orphanet:93545 [Term] id: MONDO:0019720 name: non-syndromic renal or urinary tract malformation def: "A renal or urinary tract malformation that is not part of a larger syndrome." [MONDO:patterns/isolated] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:93546"} synonym: "isolated congenital anomaly of kidney and urinary tract" EXACT [] synonym: "isolated renal or urinary tract malformation" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "nonsyndromic congenital anomaly of kidney and urinary tract" EXACT [MONDO:patterns/isolated] synonym: "nonsyndromic renal or urinary tract malformation" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/isolated] xref: Orphanet:357506 {source="MONDO:mondoIsBroaderThanSource"} xref: Orphanet:93546 {source="MONDO:equivalentTo"} is_a: EFO:0003086 {source="https://orcid.org/0000-0001-5208-3432"} ! kidney disease is_a: MONDO:0019356 {source="https://orcid.org/0000-0001-5208-3432"} ! urogenital tract malformation property_value: exactMatch Orphanet:93546 property_value: excluded_subClassOf MONDO:0019719 {source="MONDO:Redundant", source="Orphanet:93546"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string property_value: narrowMatch Orphanet:357506 [Term] id: MONDO:0019721 name: obsolete syndromic renal or urinary tract malformation def: "OBSOLETE. A renal or urinary tract malformation that is part of a larger syndrome." [MONDO:patterns/syndromic] subset: ordo_group_of_disorders {source="Orphanet:93547"} synonym: "syndrome associated with congenital anomaly of kidney and urinary tract" EXACT [MONDO:patterns/syndromic] synonym: "syndromic congenital anomaly of kidney and urinary tract" EXACT [MONDO:patterns/syndromic] synonym: "syndromic renal or urinary tract malformation" EXACT [MONDO:patterns/syndromic] xref: Orphanet:93547 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227683 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227683 property_value: exactMatch Orphanet:93547 property_value: excluded_subClassOf MONDO:0019719 {source="MONDO:Redundant", source="Orphanet:93547"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI is_obsolete: true consider: MONDO:0019356 [Term] id: MONDO:0019723 name: disease of glomerular basement membrane comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:93550"} synonym: "basement membrane disease" BROAD [Orphanet:93550] xref: Orphanet:93550 {source="MONDO:equivalentObsolete"} xref: UMLS:CN206630 {source="MONDO:equivalentTo"} is_a: EFO:1002049 {source="MONDO:Redundant", source="Orphanet:93550"} ! glomerular disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206630 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0019731 name: AApoAI amyloidosis subset: ordo_clinical_subtype {source="Orphanet:93560"} synonym: "apolipoprotein A-I amyloidosis" EXACT [Orphanet:93560] synonym: "familial amyloid nephropathy due to apolipoprotein A-I variant" EXACT [Orphanet:93560] synonym: "familial renal amyloidosis due to apolipoprotein A-I variant" EXACT [Orphanet:93560] synonym: "hereditary amyloid nephropathy due to apolipoprotein A-I variant" EXACT [Orphanet:93560] synonym: "hereditary renal amyloidosis due to apolipoprotein A-I variant" EXACT [Orphanet:93560] xref: Orphanet:93560 {source="MONDO:equivalentTo"} xref: UMLS:CN206638 {source="MONDO:equivalentTo"} is_a: MONDO:0007099 {source="Orphanet:93560"} ! familial visceral amyloidosis property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206638 property_value: exactMatch Orphanet:93560 [Term] id: MONDO:0019732 name: ALys amyloidosis subset: ordo_clinical_subtype {source="Orphanet:93561"} synonym: "familial amyloid nephropathy due to lysozyme variant" EXACT [Orphanet:93561] synonym: "familial renal amyloidosis due to lysozyme variant" EXACT [Orphanet:93561] synonym: "hereditary amyloid nephropathy due to lysozyme variant" EXACT [Orphanet:93561] synonym: "hereditary renal amyloidosis due to lysozyme variant" EXACT [Orphanet:93561] synonym: "lysozyme amyloidosis" EXACT [Orphanet:93561] xref: Orphanet:93561 {source="MONDO:equivalentTo"} xref: UMLS:CN206639 {source="MONDO:equivalentTo"} is_a: MONDO:0007099 {source="Orphanet:93561"} ! familial visceral amyloidosis property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206639 property_value: exactMatch Orphanet:93561 [Term] id: MONDO:0019733 name: AFib amyloidosis subset: ordo_clinical_subtype {source="Orphanet:93562"} synonym: "familial amyloid nephropathy due to fibrinogen A alpha-chain variant" EXACT [Orphanet:93562] synonym: "fibrinogen A alpha-chain amyloidosis" EXACT [Orphanet:93562] synonym: "hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant" EXACT [Orphanet:93562] synonym: "hereditary renal amyloidosis due to fibrinogen A alpha-chain variant" EXACT [Orphanet:93562] xref: Orphanet:93562 {source="MONDO:equivalentTo"} xref: UMLS:CN206640 {source="MONDO:equivalentTo"} is_a: MONDO:0007099 {source="Orphanet:93562"} ! familial visceral amyloidosis property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206640 property_value: exactMatch Orphanet:93562 [Term] id: MONDO:0019736 name: dense deposit disease def: "Dense deposit disease, a histological subtype of MPGN is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen." [Orphanet:93571] subset: ordo_histopathological_subtype {source="Orphanet:93571"} synonym: "glomerulonephritis membranoproliferative type 2" RELATED [GARD:0008555] synonym: "membranoproliferative glomerulonephritis type 2" EXACT [Orphanet:93571] synonym: "membranoproliferative glomerulonephritis type II" RELATED [GARD:0008555] synonym: "Mesangiocapillary glomerulonephritis type 2" EXACT [NCIT:C123039] synonym: "MPGN 2" RELATED [GARD:0008555] xref: NCIT:C123039 {source="MONDO:equivalentTo"} xref: Orphanet:93571 {source="MONDO:equivalentTo"} xref: SCTID:722760002 {source="MONDO:equivalentTo"} xref: UMLS:C0268743 {source="Orphanet:93571", source="MONDO:equivalentTo", source="Orphanet:93571/e", source="NCIT:C123039"} is_a: MONDO:0018904 {source="MONDO:Redundant", source="NCIT:C123039", source="Orphanet:93571/inferred"} ! primary membranoproliferative glomerulonephritis property_value: exactMatch http://identifiers.org/snomedct/722760002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268743 property_value: exactMatch NCIT:C123039 property_value: exactMatch Orphanet:93571 property_value: excluded_subClassOf MONDO:0018013 {source="Orphanet:93571"} [Term] id: MONDO:0019737 name: thrombotic microangiopathy def: "The syndromes of microangiopathic hemolytic anemia, thrombocytopenia, and variable signs of organ impairment, due to platelet aggregation in the microcirculation." [NCIT:C62605] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:93573"} xref: ICD10CM:M31.1 {source="MONDO:equivalentTo"} xref: ICD9:446.6 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10043645 {source="Orphanet:93573", source="Orphanet:93573/e"} xref: MESH:D057049 {source="Orphanet:93573", source="MONDO:equivalentTo", source="Orphanet:93573/e"} xref: NCIT:C62605 {source="MONDO:equivalentTo"} xref: Orphanet:93573 {source="MONDO:equivalentTo"} xref: SCTID:126729006 {source="MONDO:equivalentTo"} xref: UMLS:C2717961 {source="Orphanet:93573", source="NCIT:C62605", source="MONDO:equivalentTo", source="Orphanet:93573/e"} is_a: EFO:0009314 {source="MONDO:Redundant", source="NCIT:C62605"} ! blood coagulation disease property_value: closeMatch http://identifiers.org/meddra/10043645 property_value: exactMatch http://identifiers.org/mesh/D057049 property_value: exactMatch http://identifiers.org/snomedct/126729006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2717961 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/M31.1 property_value: exactMatch NCIT:C62605 property_value: exactMatch Orphanet:93573 property_value: excluded_subClassOf MONDO:0005240 {source="Orphanet:93573"} [Term] id: MONDO:0019738 name: atypical hemolytic-uremic syndrome with H factor anomaly subset: ordo_etiological_subtype {source="Orphanet:93579"} synonym: "aHUS with H factor anomaly" EXACT [Orphanet:93579] synonym: "atypical HUS with H factor anomaly" EXACT [Orphanet:93579] synonym: "D-HUS with H factor anomaly" EXACT [Orphanet:93579] synonym: "hemolytic-uremic syndrome without diarrhea with H factor anomaly" EXACT [Orphanet:93579] synonym: "hemolytic-uremic syndrome without diarrhoea with H factor anomaly" EXACT OMO:0003005 [] xref: Orphanet:93579 {source="MONDO:equivalentObsolete"} xref: UMLS:CN206650 {source="MONDO:equivalentTo"} is_a: MONDO:0009335 ! hemolytic uremic syndrome, atypical, susceptibility to, 1 is_a: MONDO:0016244 {source="MONDO:Redundant", source="Orphanet:93579"} ! atypical hemolytic-uremic syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206650 [Term] id: MONDO:0019739 name: atypical hemolytic-uremic syndrome with anti-factor H antibodies subset: ordo_etiological_subtype {source="Orphanet:93581"} synonym: "aHUS with anti-factor H antibodies" EXACT [Orphanet:93581] synonym: "atypical HUS with anti-factor H antibodies" EXACT [Orphanet:93581] synonym: "D-HUS with anti-factor H antibodies" EXACT [Orphanet:93581] synonym: "hemolytic-uremic syndrome without diarrhea with anti-factor H antibodies" EXACT [Orphanet:93581] synonym: "hemolytic-uremic syndrome without diarrhoea with anti-factor H antibodies" EXACT OMO:0003005 [] xref: Orphanet:93581 {source="MONDO:equivalentTo"} xref: UMLS:CN206652 {source="MONDO:equivalentTo"} is_a: MONDO:0009335 ! hemolytic uremic syndrome, atypical, susceptibility to, 1 is_a: MONDO:0016244 {source="MONDO:Redundant", source="Orphanet:93581"} ! atypical hemolytic-uremic syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206652 property_value: exactMatch Orphanet:93581 [Term] id: MONDO:0019740 name: acquired thrombotic thrombocytopenic purpura def: "Acquired thrombotic thrombocytopenic purpura is the non-hereditary form of thrombotic thrombocytopenic purpura (TTP), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity." [Orphanet:93585] subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:93585"} synonym: "acquired ADAMTS13 deficiency" EXACT [NCIT:C131653] synonym: "acquired thrombotic thrombocytopenic purpura" EXACT [MONDO:patterns/acquired] synonym: "acquired TTP" EXACT [Orphanet:93585] synonym: "autoimmune thrombotic thrombocytopenic purpura" EXACT [Orphanet:93585] synonym: "idiopathic thrombotic thrombocytopenic purpura" RELATED [GARD:0004607] synonym: "Moschowitz syndrome" RELATED [GARD:0004607] synonym: "purpura, thrombotic thrombocytopenic" BROAD [GARD:0004607] synonym: "TTP" BROAD ABBREVIATION [GARD:0004607] xref: ICD10CM:M31.3 {source="Orphanet:93585/ntbt", source="MONDO:relatedTo", source="Orphanet:93585"} xref: MESH:C536901 {source="Orphanet:93585", source="MONDO:equivalentTo", source="Orphanet:93585/e"} xref: NCIT:C131653 {source="MONDO:equivalentTo"} xref: Orphanet:93585 {source="MONDO:equivalentTo"} xref: SCTID:438476003 {source="MONDO:equivalentTo"} xref: UMLS:C2584777 {source="MONDO:equivalentTo"} xref: UMLS:C2584778 {source="Orphanet:93585", source="MONDO:equivalentTo", source="Orphanet:93585/e", source="NCIT:C131653"} is_a: MONDO:0001198 ! acquired thrombocytopenia is_a: MONDO:0018896 {source="MESH:C536901", source="MONDO:Redundant", source="NCIT:C131653", source="Orphanet:93585"} ! thrombotic thrombocytopenic purpura intersection_of: MONDO:0018896 ! thrombotic thrombocytopenic purpura intersection_of: has_characteristic MONDO:0021141 ! acquired property_value: exactMatch http://identifiers.org/mesh/C536901 property_value: exactMatch http://identifiers.org/snomedct/438476003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2584777 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2584778 property_value: exactMatch NCIT:C131653 property_value: exactMatch Orphanet:93585 [Term] id: MONDO:0019741 name: familial cystic renal disease def: "An instance of cystic kidney disease that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:93587"} synonym: "hereditary cystic kidney disease" EXACT [MONDO:patterns/hereditary] xref: Orphanet:93587 {source="MONDO:equivalentTo"} xref: UMLS:CN206655 {source="MONDO:equivalentTo"} is_a: EFO:0008615 ! Cystic Kidney Disease is_a: MONDO:0100191 ! inherited kidney disorder intersection_of: EFO:0008615 ! Cystic Kidney Disease intersection_of: has_characteristic MONDO:0021152 ! inherited relationship: has_characteristic MONDO:0021136 {source="MONDO:0020030"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206655 property_value: exactMatch Orphanet:93587 [Term] id: MONDO:0019742 name: late-onset nephronophthisis subset: ordo_clinical_subtype {source="Orphanet:93589"} xref: Orphanet:93589 {source="MONDO:equivalentTo"} is_a: MONDO:0019005 {source="Orphanet:93589"} ! nephronophthisis is_a: MONDO:0019232 {source="PMID:33340416"} ! inborn disorder of peptide metabolism property_value: exactMatch Orphanet:93589 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0019743 name: nephropathy secondary to a storage or other metabolic disease comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:93593"} xref: Orphanet:93593 {source="MONDO:equivalentTo"} xref: UMLS:CN206659 {source="MONDO:equivalentTo"} is_a: EFO:0003086 {source="Orphanet:93593"} ! kidney disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0020030"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206659 property_value: exactMatch Orphanet:93593 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0019745 name: cystinuria type A subset: ordo_etiological_subtype {source="Orphanet:93612"} xref: MESH:C565652 {source="MONDO:equivalentTo"} xref: Orphanet:93612 {source="MONDO:equivalentTo"} is_a: MONDO:0009067 {source="MESH:C531664", source="Orphanet:93612"} ! cystinuria property_value: exactMatch http://identifiers.org/mesh/C565652 property_value: exactMatch Orphanet:93612 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0019746 name: cystinuria type B subset: ordo_etiological_subtype {source="Orphanet:93613"} xref: Orphanet:93613 {source="MONDO:equivalentTo"} xref: UMLS:C1857389 {source="MONDO:equivalentTo", source="Orphanet:93613"} is_a: MONDO:0009067 {source="Orphanet:93613"} ! cystinuria property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857389 property_value: exactMatch Orphanet:93613 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0019751 name: autoinflammatory syndrome def: "A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease." [NCIT:C119050, PMID:23827249] comment: Editor note: todo - investigate diseases that have autoinflammatory and autommune components, e.g. IBD, Ankylosing Spondylitis, Axial Spondyloarthropathy, perhaps adult Onset Still's Disease. Consider disjointness axiom subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:93665"} xref: ICD10CM:M04-M04 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: MedDRA:10072220 {source="Orphanet:93665", source="Orphanet:93665/e"} xref: NCIT:C119050 {source="MONDO:equivalentTo"} xref: Orphanet:93665 {source="MONDO:equivalentTo"} xref: UMLS:C3267073 {source="MONDO:equivalentTo", source="Orphanet:93665", source="Orphanet:93665/e"} xref: UMLS:C3890737 {source="MONDO:equivalentTo", source="NCIT:C119050"} is_a: EFO:0005755 {source="Orphanet:93665"} ! rheumatic disease is_a: MONDO:0002254 {source="NCIT:C119050"} ! syndromic disease disjoint_from: EFO:0005741 ! infectious disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015940"} ! rare property_value: closeMatch http://identifiers.org/meddra/10072220 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3267073 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3890737 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/M04-M04 property_value: exactMatch NCIT:C119050 property_value: exactMatch Orphanet:93665 [Term] id: MONDO:0019755 name: developmental defect during embryogenesis def: "A disease that has its basis in the disruption of embryonic morphogenesis." [MONDO:design_pattern] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:93890"} synonym: "congenital malformation syndrome" EXACT [] synonym: "developmental defect during embryogenesis" EXACT [] synonym: "disorder of embryonic morphogenesis" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "embryonic morphogenesis disease" EXACT [MONDO:design_pattern] synonym: "malformation syndrome" EXACT [Orphanet:93890] synonym: "rare developmental defect during embryogenesis" EXACT [Orphanet:93890] xref: ICD9:759.7 xref: NCIT:C99267 {source="MONDO:equivalentTo"} xref: Orphanet:93890 {source="MONDO:equivalentTo"} xref: SCTID:400038003 {source="MONDO:equivalentTo"} xref: UMLS:C1302790 {source="MONDO:equivalentTo"} xref: UMLS:CN206687 {source="MONDO:equivalentTo"} is_a: MONDO:0021147 ! disorder of development or morphogenesis property_value: exactMatch http://identifiers.org/snomedct/400038003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1302790 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206687 property_value: exactMatch NCIT:C99267 property_value: exactMatch Orphanet:93890 [Term] id: MONDO:0019756 name: lobar holoprosencephaly def: "Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." [Orphanet:93924] subset: ordo_clinical_subtype {source="Orphanet:93924"} xref: Orphanet:93924 {source="MONDO:equivalentTo"} xref: SCTID:253136007 {source="MONDO:equivalentTo"} is_a: MONDO:0016296 {source="Orphanet:93924"} ! holoprosencephaly property_value: exactMatch http://identifiers.org/snomedct/253136007 property_value: exactMatch Orphanet:93924 [Term] id: MONDO:0019757 name: alobar holoprosencephaly def: "Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE) characterized by a single brain ventricle and no interhemispheric fissure." [Orphanet:93925] subset: ordo_clinical_subtype {source="Orphanet:93925"} xref: Orphanet:93925 {source="MONDO:equivalentTo"} xref: SCTID:253137003 {source="MONDO:equivalentTo"} is_a: MONDO:0016296 {source="Orphanet:93925"} ! holoprosencephaly property_value: exactMatch http://identifiers.org/snomedct/253137003 property_value: exactMatch Orphanet:93925 [Term] id: MONDO:0019758 name: midline interhemispheric variant of holoprosencephaly def: "Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." [Orphanet:93926] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: obsoletion_candidate subset: ordo_clinical_subtype {source="Orphanet:93926"} synonym: "middle interhemispheric fusion variant" EXACT [Orphanet:93926] synonym: "middle interhemispheric variant of holoprosencephaly" EXACT [Orphanet:93926] synonym: "MIH" EXACT ABBREVIATION [Orphanet:93926] synonym: "MIH type HPE" EXACT [Orphanet:93926] synonym: "MIHF" EXACT ABBREVIATION [Orphanet:93926] synonym: "MIHV" EXACT ABBREVIATION [Orphanet:93926] synonym: "Syntelencephaly" EXACT [Orphanet:93926] xref: Orphanet:93926 {source="MONDO:equivalentTo"} xref: UMLS:CN206692 {source="MONDO:equivalentTo"} is_a: MONDO:0016296 {source="Orphanet:93926"} ! holoprosencephaly property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206692 property_value: exactMatch Orphanet:93926 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0019759 name: epispadias def: "Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra." [Orphanet:93928] subset: ordo_clinical_subtype {source="Orphanet:93928"} synonym: "epispadias" EXACT [MONDO:ambiguous] synonym: "epispadias (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0000039 {source="MONDO:otherHierarchy"} xref: ICD9:752.62 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10015088 {source="Orphanet:93928", source="Orphanet:93928/e"} xref: MESH:D004842 {source="Orphanet:93928", source="MONDO:equivalentTo", source="Orphanet:93928/e"} xref: NCIT:C98923 {source="MONDO:equivalentTo"} xref: Orphanet:93928 {source="MONDO:equivalentTo"} xref: SCTID:406476007 {source="MONDO:equivalentTo"} xref: UMLS:C0014588 {source="NCIT:C98923", source="Orphanet:93928", source="MONDO:equivalentTo", source="Orphanet:93928/e"} xref: UMLS:CN227686 {source="MONDO:equivalentTo"} is_a: MONDO:0017919 {source="Orphanet:93928"} ! exstrophy-epispadias complex property_value: closeMatch http://identifiers.org/meddra/10015088 property_value: exactMatch http://identifiers.org/mesh/D004842 property_value: exactMatch http://identifiers.org/snomedct/406476007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014588 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227686 property_value: exactMatch NCIT:C98923 property_value: exactMatch Orphanet:93928 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3650 xsd:anyURI property_value: IAO:0000589 "epispadias (disease)" xsd:string [Term] id: MONDO:0019760 name: terminal transverse defects of arm subset: ordo_morphological_anomaly {source="Orphanet:93937"} synonym: "congenital limb amputation" EXACT [Orphanet:93937] xref: MESH:C565681 {source="MONDO:equivalentTo"} xref: Orphanet:93937 {source="MONDO:equivalentObsolete"} xref: UMLS:C1857578 {source="MONDO:equivalentTo", source="Orphanet:93937"} is_a: MONDO:0015167 ! amniotic band syndrome property_value: exactMatch http://identifiers.org/mesh/C565681 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857578 [Term] id: MONDO:0019766 name: X-linked intellectual disability, Porteous type subset: ordo_clinical_subtype {source="Orphanet:93945"} xref: Orphanet:93945 {source="MONDO:equivalentTo"} xref: UMLS:CN206701 {source="MONDO:equivalentTo"} is_a: MONDO:0010653 {source="Orphanet:93945"} ! Renpenning syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206701 property_value: exactMatch Orphanet:93945 [Term] id: MONDO:0019767 name: hamel cerebro-palato-cardiac syndrome def: "Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome." [Orphanet:93946] subset: ordo_clinical_subtype {source="Orphanet:93946"} xref: Orphanet:93946 {source="MONDO:equivalentTo"} xref: UMLS:CN206702 {source="MONDO:equivalentTo"} is_a: MONDO:0010653 {source="Orphanet:93946"} ! Renpenning syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206702 property_value: exactMatch Orphanet:93946 [Term] id: MONDO:0019768 name: X-linked intellectual disability, Golabi-Ito-hall type def: "Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome." [Orphanet:93947] subset: ordo_clinical_subtype {source="Orphanet:93947"} xref: Orphanet:93947 {source="MONDO:equivalentTo"} xref: UMLS:CN206703 {source="MONDO:equivalentTo"} is_a: MONDO:0010653 {source="Orphanet:93947"} ! Renpenning syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206703 property_value: exactMatch Orphanet:93947 [Term] id: MONDO:0019769 name: X-linked intellectual disability, Sutherland-Haan type subset: ordo_clinical_subtype {source="Orphanet:93950"} xref: Orphanet:93950 {source="MONDO:equivalentTo"} xref: UMLS:CN206704 {source="MONDO:equivalentTo"} is_a: MONDO:0010653 {source="Orphanet:93950"} ! Renpenning syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206704 property_value: exactMatch Orphanet:93950 [Term] id: MONDO:0019770 name: X-linked dominant intellectual disability-epilepsy syndrome subset: ordo_disease {source="Orphanet:93951"} xref: Orphanet:93951 {source="MONDO:equivalentObsolete"} xref: UMLS:CN227687 {source="MONDO:equivalentTo"} is_a: MONDO:0016160 {source="Orphanet:93951"} ! X-linked intellectual disability-epilepsy syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227687 [Term] id: MONDO:0019771 name: oromandibular dystonia def: "Oromandibular dystonia (OMD) is a form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles." [Orphanet:93958] subset: ordo_disease {source="Orphanet:93958"} xref: DOID:0050843 {source="MONDO:equivalentTo"} xref: Orphanet:93958 {source="MONDO:equivalentTo"} xref: UMLS:C0393607 {source="Orphanet:93958/e", source="MONDO:equivalentTo", source="Orphanet:93958"} is_a: MONDO:0000477 {source="DOID:0050843", source="Wikipedia:Dystonia"} ! focal dystonia is_a: MONDO:0015990 {source="Orphanet:93958"} ! focal, segmental or multifocal dystonia property_value: exactMatch DOID:0050843 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393607 property_value: exactMatch Orphanet:93958 [Term] id: MONDO:0019772 name: blepharospasm-oromandibular dystonia syndrome def: "Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia." [Orphanet:93964] subset: ordo_disease {source="Orphanet:93964"} synonym: "blepharospasm - oromandibular dystonia" RELATED [GARD:0007008] synonym: "blepharospasm-oromandibular dystonia" RELATED [GARD:0007008] synonym: "Brueghel syndrome" RELATED [GARD:0007008] synonym: "idiopathic blepharospasm-oromandibular dystonia syndrome" RELATED [GARD:0007008] synonym: "Meige dystonia" EXACT [Orphanet:93964] synonym: "Meige syndrome" EXACT [MONDO:0002825, Orphanet:93964] synonym: "Meige's syndrome" RELATED [GARD:0007008] synonym: "oral facial dystonia" RELATED [GARD:0007008] synonym: "segmental cranial dystonia" RELATED [GARD:0007008] xref: DOID:3982 {source="MONDO:equivalentTo"} xref: MESH:D008538 {source="DOID:3982", source="MONDO:equivalentTo"} xref: Orphanet:93964 {source="MONDO:equivalentTo"} xref: SCTID:230325003 {source="MONDO:equivalentTo"} is_a: MONDO:0015990 {source="Orphanet:93964"} ! focal, segmental or multifocal dystonia property_value: exactMatch DOID:3982 property_value: exactMatch http://identifiers.org/mesh/D008538 property_value: exactMatch http://identifiers.org/snomedct/230325003 property_value: exactMatch Orphanet:93964 [Term] id: MONDO:0019773 name: myelomeningocele def: "Myelomeningocele is the most severe form of spina bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains (hydrocephalus). This happens because fluid that protects the brain and spinal cord is unable to drain like it should. The fluid builds up, causing pressure and swelling. Without treatment, a persons head grows too big, and theymay have brain damage. Other disorders of the spinal cord may be seen, including syringomyelia and hip dislocation. The cause of myelomeningocele is unknown. However, low levels of folic acid in a woman's body before and during early pregnancy is thought to play a part in this type of birth defect." [https://rarediseases.info.nih.gov/diseases/3475/myelomeningocele] subset: gard_rare {source="GARD:0003475"} subset: ordo_morphological_anomaly {source="Orphanet:93969"} synonym: "meningomyelocele" RELATED [GARD:0003475] xref: DOID:0060326 {source="MONDO:equivalentTo"} xref: EFO:1001369 {source="MONDO:equivalentTo"} xref: HP:0002475 {source="MONDO:otherHierarchy", source="DOID:0060326"} xref: MESH:D008591 {source="MONDO:equivalentTo", source="DOID:0060326"} xref: Orphanet:93969 {source="MONDO:equivalentTo"} xref: SCTID:203994003 {source="DOID:0060326", source="MONDO:directSiblingOf"} xref: SCTID:414667000 {source="MONDO:equivalentTo", source="DOID:0060326"} is_a: MONDO:0017069 {source="Orphanet:93969"} ! spina bifida cystica property_value: exactMatch DOID:0060326 property_value: exactMatch http://identifiers.org/mesh/D008591 property_value: exactMatch http://identifiers.org/snomedct/414667000 property_value: exactMatch Orphanet:93969 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3475/myelomeningocele xsd:anyURI {source="GARD:0003475"} [Term] id: MONDO:0019774 name: obsolete Holmes-Gang syndrome def: "OBSOLETE. Holmes-Gang syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterized by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies)." [Orphanet:93970] comment: Reason: out of scope. Term to consider: alpha thalassemia-X-linked intellectual disability syndrome' subset: ordo_malformation_syndrome {source="Orphanet:93970"} xref: Orphanet:93970 {source="MONDO:obsoleteEquivalentObsolete"} xref: UMLS:CN206715 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206715 property_value: exactMatch Orphanet:93970 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4130 xsd:anyURI is_obsolete: true consider: MONDO:0010519 [Term] id: MONDO:0019775 name: obsolete Chudley-Lowry-Hoar syndrome property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5061 xsd:anyURI is_obsolete: true replaced_by: MONDO:0010663 [Term] id: MONDO:0019776 name: obsolete Juberg-Marsidi syndrome def: "OBSOLETE. Juberg-Marsidi syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterized by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies)." [Orphanet:93972] subset: ordo_malformation_syndrome {source="Orphanet:93972"} synonym: "juberg Marsidi syndrome" EXACT [] xref: Orphanet:93972 {source="MONDO:obsoleteEquivalentObsolete"} xref: SCTID:721875000 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://identifiers.org/snomedct/721875000 property_value: exactMatch Orphanet:93972 property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5061 xsd:anyURI is_obsolete: true [Term] id: MONDO:0019777 name: obsolete Carpenter-Waziri syndrome property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5061 xsd:anyURI is_obsolete: true replaced_by: MONDO:0010663 [Term] id: MONDO:0019778 name: obsolete Smith-Fineman-Myers syndrome property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5061 xsd:anyURI is_obsolete: true replaced_by: MONDO:0010663 [Term] id: MONDO:0019779 name: obsolete Renier-Gabreels-Jasper syndrome def: "OBSOLETE. Renier-Gabreels-Jasper syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterized by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies)." [Orphanet:93975] subset: gard_rare {source="GARD:0004672"} subset: ordo_malformation_syndrome {source="Orphanet:93975"} synonym: "Renier Gabreels Jasper syndrome" RELATED [GARD:0004672] xref: Orphanet:93975 {source="MONDO:obsoleteEquivalentObsolete"} xref: SCTID:723501008 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206720 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://identifiers.org/snomedct/723501008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206720 property_value: exactMatch Orphanet:93975 property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5061 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4672/renier-gabreels-jasper-syndrome xsd:anyURI {source="GARD:0004672"} is_obsolete: true consider: MONDO:0010663 [Term] id: MONDO:0019780 name: anotia def: "A congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development." [https://orcid.org/0000-0001-5208-3432, Orphanet:93976] subset: ordo_morphological_anomaly {source="Orphanet:93976"} xref: ICD9:744.01 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10002654 {source="Orphanet:93976/e", source="Orphanet:93976"} xref: Orphanet:93976 {source="MONDO:equivalentTo"} xref: SCTID:57436000 {source="MONDO:equivalentTo"} is_a: MONDO:0018562 {source="MONDO:0015502-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! hereditary otorhinolaryngological malformation is_a: MONDO:0019755 {source="MONDO:0019936-obsoleted"} ! developmental defect during embryogenesis property_value: closeMatch http://identifiers.org/meddra/10002654 property_value: exactMatch http://identifiers.org/snomedct/57436000 property_value: exactMatch Orphanet:93976 [Term] id: MONDO:0019782 name: humero-ulnar synostosis subset: ordo_morphological_anomaly {source="Orphanet:94056"} synonym: "humero-ulnar fusion" EXACT [Orphanet:94056] xref: Orphanet:94056 {source="MONDO:equivalentTo"} is_a: MONDO:0017429 {source="Orphanet:94056"} ! joint formation defects property_value: exactMatch Orphanet:94056 [Term] id: MONDO:0019784 name: 12q14 microdeletion syndrome def: "12q14 microdeletion syndrome is characterized by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis." [Orphanet:94063] subset: gard_rare {source="GARD:0013390"} subset: ordo_malformation_syndrome {source="Orphanet:94063"} synonym: "Del(12)(q14)" EXACT [Orphanet:94063] synonym: "deletion 12q14" EXACT [Orphanet:94063] synonym: "monosomy 12q14" EXACT [Orphanet:94063] synonym: "osteopoikilosis-short stature-intellectual disability syndrome" EXACT [Orphanet:94063] xref: DECIPHER:76 {source="MONDO:equivalentTo"} xref: Orphanet:94063 {source="MONDO:equivalentTo"} xref: SCTID:719046005 {source="MONDO:equivalentTo"} xref: UMLS:C4305140 {source="MONDO:equivalentTo"} xref: UMLS:CN206727 {source="MONDO:equivalentTo"} is_a: MONDO:0016877 {source="Orphanet:94063"} ! partial deletion of the long arm of chromosome 12 property_value: exactMatch http://identifiers.org/snomedct/719046005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305140 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206727 property_value: exactMatch Orphanet:94063 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:94063"} property_value: excluded_subClassOf MONDO:0019703 {source="Orphanet:94063", source="Orphanet:94063/inferred"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13390/12q14-microdeletion-syndrome xsd:anyURI {source="GARD:0013390"} [Term] id: MONDO:0019786 name: severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia def: "Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterized by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localized to chromosome 1 and the other to chromosome 14." [Orphanet:94066] subset: ordo_malformation_syndrome {source="Orphanet:94066"} xref: Orphanet:94066 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:94066"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch Orphanet:94066 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:94066"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0019787 name: autoimmune enteropathy def: "Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss." [Orphanet:94075] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:94075"} synonym: "immune-mediated protracted diarrhea of infancy" EXACT [Orphanet:94075] synonym: "immune-mediated protracted diarrhoea of infancy" EXACT OMO:0003005 [] synonym: "severe immune-mediated enteropathy" EXACT [Orphanet:94075] xref: ICD9:279.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538273 {source="MONDO:equivalentTo"} xref: NCIT:C94694 {source="MONDO:equivalentTo"} xref: Orphanet:522043 {source="MONDO:mondoIsBroaderThanSource"} xref: Orphanet:94075 {source="MONDO:equivalentTo"} xref: SCTID:235728001 {source="MONDO:equivalentTo"} xref: UMLS:C0341305 {source="MONDO:equivalentTo", source="NCIT:C94694", source="Orphanet:94075"} is_a: EFO:0009554 ! malabsorption syndrome is_a: MONDO:0000588 ! autoimmune disorder of gastrointestinal tract relationship: has_characteristic MONDO:0021136 {source="MONDO:0015245"} ! rare property_value: exactMatch http://identifiers.org/mesh/C538273 property_value: exactMatch http://identifiers.org/snomedct/235728001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341305 property_value: exactMatch NCIT:C94694 property_value: exactMatch Orphanet:94075 property_value: narrowMatch Orphanet:522043 [Term] id: MONDO:0019791 name: recessive mitochondrial ataxia syndrome subset: ordo_disease {source="Orphanet:94125"} synonym: "MIRAS" EXACT ABBREVIATION [Orphanet:94125] xref: EFO:0008816 {source="MONDO:equivalentTo"} xref: Orphanet:94125 {source="MONDO:equivalentTo"} xref: UMLS:CN206743 {source="MONDO:equivalentTo"} is_a: MONDO:0016798 {source="Orphanet:94125"} ! ataxia neuropathy spectrum is_a: MONDO:0020044 {source="Orphanet:94125"} ! autosomal recessive metabolic cerebellar ataxia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206743 property_value: exactMatch Orphanet:94125 [Term] id: MONDO:0019792 name: autosomal dominant cerebellar ataxia type I def: "Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." [Orphanet:94145] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:94145"} synonym: "ADCA1" EXACT ABBREVIATION [Orphanet:94145] synonym: "ADCAI" EXACT ABBREVIATION [Orphanet:94145] synonym: "autosomal dominant cerebellar ataxia type 1" EXACT [Orphanet:94145] synonym: "cerebellar plus syndrome" EXACT [Orphanet:94145] xref: Orphanet:94145 {source="MONDO:equivalentTo"} xref: UMLS:CN206744 {source="MONDO:equivalentTo"} is_a: MONDO:0020380 {source="Orphanet:94145"} ! autosomal dominant cerebellar ataxia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206744 property_value: exactMatch Orphanet:94145 [Term] id: MONDO:0019793 name: autosomal dominant cerebellar ataxia type III def: "Autosomal dominant cerebellar ataxia (ACDA) type III is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31." [Orphanet:94148] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:94148"} synonym: "ADCA3" EXACT ABBREVIATION [Orphanet:94148] synonym: "ADCAIII" EXACT ABBREVIATION [Orphanet:94148] synonym: "autosomal dominant cerebellar ataxia type 3" EXACT [Orphanet:94148] synonym: "autosomal dominant cerebellar ataxia type III" EXACT [Orphanet:94148] synonym: "Pure cerebellar syndrome-mild pyramidal signs syndrome" EXACT [Orphanet:94148] xref: Orphanet:94148 {source="MONDO:equivalentTo"} xref: UMLS:CN206746 {source="MONDO:equivalentTo"} is_a: MONDO:0020380 {source="Orphanet:94148"} ! autosomal dominant cerebellar ataxia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206746 property_value: exactMatch Orphanet:94148 [Term] id: MONDO:0019794 name: autosomal dominant cerebellar ataxia type IV subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:94149"} synonym: "ADCA4" EXACT ABBREVIATION [Orphanet:94149] synonym: "ADCAIV" EXACT ABBREVIATION [Orphanet:94149] synonym: "autosomal dominant cerebellar ataxia type 4" EXACT [Orphanet:94149] synonym: "autosomal dominant cerebellar ataxia type IV" EXACT [Orphanet:94149] xref: Orphanet:94149 {source="MONDO:equivalentTo"} xref: UMLS:CN229225 {source="MONDO:equivalentTo"} is_a: MONDO:0020380 {source="Orphanet:94149"} ! autosomal dominant cerebellar ataxia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229225 property_value: exactMatch Orphanet:94149 [Term] id: MONDO:0019796 name: acrocephalosyndactyly def: "Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations." [Orphanet:946] subset: disease_grouping subset: gard_rare subset: ordo_group_of_disorders {source="Orphanet:946"} synonym: "acrocephalosyndactylia" EXACT [MONDO:0005331, Orphanet:946] synonym: "acrocephalosyndactyly" EXACT [NCIT:C34348] synonym: "ACS" EXACT ABBREVIATION [Orphanet:946] xref: DOID:12960 {source="EFO:0004123", source="MONDO:equivalentTo"} xref: EFO:0004123 {source="MONDO:equivalentTo"} xref: ICD9:755.55 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12960"} xref: MedDRA:10000590 {source="Orphanet:946", source="Orphanet:946/e"} xref: NCIT:C34348 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:12960"} xref: Orphanet:946 {source="MONDO:equivalentObsolete"} xref: SCTID:268262006 {source="MONDO:equivalentTo", source="DOID:12960"} is_a: MONDO:0015338 {source="Orphanet:946"} ! syndromic craniosynostosis is_a: MONDO:0019054 ! congenital limb malformation property_value: closeMatch http://identifiers.org/meddra/10000590 property_value: exactMatch DOID:12960 property_value: exactMatch http://identifiers.org/snomedct/268262006 property_value: exactMatch NCIT:C34348 [Term] id: MONDO:0019797 name: acrodysostosis def: "Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay." [Orphanet:950] subset: gard_rare {source="GARD:0005724"} subset: ordo_malformation_syndrome {source="Orphanet:950"} synonym: "acrodysplasia" EXACT [Orphanet:950] synonym: "Arkless-Graham syndrome" EXACT [Orphanet:950] synonym: "Maroteaux-Malamut syndrome" EXACT [Orphanet:950] synonym: "nasal hypoplasia-peripheral dysostosis-intellectual disability syndrome" RELATED [GARD:0005724] synonym: "peripheral dysostosis-nasal hypoplasia-intellectual disability (PNM) syndrome" RELATED [GARD:0005724] xref: DOID:14669 {source="MONDO:equivalentTo"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538179 {source="DOID:14669", source="Orphanet:950", source="MONDO:equivalentTo", source="Orphanet:950/e"} xref: OMIMPS:101800 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:950 {source="MONDO:equivalentTo"} xref: SCTID:66758006 {source="DOID:14669", source="MONDO:equivalentTo"} xref: UMLS:C0220659 {source="DOID:14669", source="Orphanet:950", source="MONDO:equivalentTo", source="Orphanet:950/e"} is_a: MONDO:0015483 {source="Orphanet:950"} ! mandibulofacial dysostosis is_a: MONDO:0018454 ! dysostosis of genetic origin is_a: MONDO:0018751 ! hereditary otorhinolaryngologic disease is_a: MONDO:0019695 {source="Orphanet:950"} ! acromelic dysplasia property_value: exactMatch DOID:14669 property_value: exactMatch http://identifiers.org/mesh/C538179 property_value: exactMatch http://identifiers.org/snomedct/66758006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220659 property_value: exactMatch https://omim.org/phenotypicSeries/PS101800 property_value: exactMatch Orphanet:950 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5724/acrodysostosis xsd:anyURI {source="GARD:0005724"} [Term] id: MONDO:0019799 name: hepatoerythropoietic porphyria def: "A very rare form of chronic hepatic porphyria characterized by bullous photodermatitis." [https://orcid.org/0000-0001-5208-3432, Orphanet:95159] subset: ordo_disease {source="Orphanet:95159"} synonym: "HEP" EXACT ABBREVIATION [OMIM:176100, Orphanet:95159] xref: DOID:5230 {source="MONDO:equivalentTo"} xref: MESH:D017121 {source="Orphanet:95159", source="MONDO:equivalentTo", source="Orphanet:95159/e", source="DOID:5230"} xref: NCIT:C84754 {source="MONDO:equivalentTo", source="DOID:5230"} xref: Orphanet:95159 {source="MONDO:equivalentTo"} xref: SCTID:111386004 {source="MONDO:equivalentTo", source="DOID:5230"} xref: UMLS:C0162569 {source="NCIT:C84754", source="Orphanet:95159", source="MONDO:equivalentTo", source="Orphanet:95159/e", source="DOID:5230"} is_a: MONDO:0015104 {source="NCIT:C84754"} ! porphyria cutanea tarda property_value: exactMatch DOID:5230 property_value: exactMatch http://identifiers.org/mesh/D017121 property_value: exactMatch http://identifiers.org/snomedct/111386004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162569 property_value: exactMatch NCIT:C84754 property_value: exactMatch Orphanet:95159 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5128 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5507 xsd:anyURI [Term] id: MONDO:0019800 name: chronic hepatic porphyria def: "Chronic hepatic porphyrias represent a sub-group of porphyrias. They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare)." [Orphanet:95161] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:95161"} synonym: "acute hepatic porphyria, chronic" EXACT [MONDO:design_pattern, MONDO:patterns/chronic] synonym: "chronic acute hepatic porphyria" EXACT [MONDO:design_pattern] xref: Orphanet:95161 {source="MONDO:equivalentTo"} is_a: MONDO:0002520 ! hepatic porphyria property_value: exactMatch Orphanet:95161 property_value: excluded_subClassOf MONDO:0019142 {source="Orphanet:95161"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0019801 name: acute adrenal insufficiency def: "Acute adrenal insufficiency (AAI) is a rare but severe condition caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made." [Orphanet:95409] subset: ordo_clinical_syndrome {source="Orphanet:95409"} synonym: "acute adrenal failure" EXACT [Orphanet:95409] synonym: "acute adrenocortical insufficiency" EXACT [Orphanet:95409] synonym: "Addisonian crisis" EXACT [Orphanet:95409] synonym: "adrenal crisis" EXACT [Orphanet:95409] synonym: "adrenocortical crisis" EXACT [Orphanet:95409] xref: ICD9:255.41 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C112840 {source="MONDO:equivalentTo"} xref: Orphanet:95409 {source="MONDO:equivalentTo"} xref: SCTID:24867002 {source="MONDO:equivalentTo"} xref: UMLS:C0151467 {source="MONDO:equivalentTo", source="NCIT:C112840", source="Orphanet:95409"} is_a: MONDO:0015128 {source="Orphanet:95409"} ! primary adrenal insufficiency is_a: MONDO:0020683 ! acute disease property_value: exactMatch http://identifiers.org/snomedct/24867002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151467 property_value: exactMatch NCIT:C112840 property_value: exactMatch Orphanet:95409 [Term] id: MONDO:0019803 name: angioma serpiginosum def: "Angioma serpiginosum (AS) is a benign congenital skin disease characterized by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko." [Orphanet:95429] subset: ordo_disease {source="Orphanet:95429"} synonym: "angioma serpiginosum of skin" EXACT [DOID:4028] xref: DOID:4028 {source="MONDO:equivalentTo"} xref: NCIT:C3926 {source="DOID:4028", source="MONDO:equivalentTo"} xref: Orphanet:95429 {source="DOID:4028", source="MONDO:equivalentTo"} xref: SCTID:49465005 {source="DOID:4028", source="MONDO:equivalentTo"} xref: UMLS:CN206759 {source="MONDO:equivalentTo"} is_a: MONDO:0002300 {source="MONDO:Entailed", source="NCIT:C3926/inferred"} ! dermis tumor is_a: MONDO:0003110 {source="DOID:4028", source="NCIT:C3926"} ! skin hemangioma is_a: MONDO:0016231 {source="Orphanet:95429"} ! capillary malformation is_a: MONDO:0019293 {source="NCIT:C3926/inferred", source="Orphanet:95429"} ! skin vascular disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015948", source="MONDO:0020031"} ! rare property_value: exactMatch DOID:4028 property_value: exactMatch http://identifiers.org/snomedct/49465005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206759 property_value: exactMatch NCIT:C3926 property_value: exactMatch Orphanet:95429 [Term] id: MONDO:0019804 name: tracheomalacia def: "Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months." [Orphanet:95430] subset: ordo_morphological_anomaly {source="Orphanet:95430"} synonym: "congenital major airway collapse" EXACT [Orphanet:95430] synonym: "congenital tracheomalacia" EXACT [DOID:0060313] synonym: "tracheomalacia, congenital" RELATED [GARD:0010515] synonym: "type 1 tracheomalacia" RELATED [GARD:0010515] xref: DOID:0060313 {source="MONDO:equivalentTo"} xref: HP:0002779 {source="MONDO:otherHierarchy", source="DOID:0060313"} xref: ICD9:748.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10010654 {source="Orphanet:95430", source="Orphanet:95430/e"} xref: MESH:D055090 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: NCIT:C98634 {source="MONDO:equivalentTo"} xref: Orphanet:95430 {source="MONDO:equivalentTo", source="DOID:0060313"} xref: SCTID:95467005 {source="MONDO:equivalentTo", source="DOID:0060313"} xref: UMLS:C0948187 {source="MONDO:equivalentTo", source="NCIT:C98634"} is_a: MONDO:0002567 {source="DOID:0060313", source="NCIT:C98634/inferred"} ! tracheal disorder is_a: MONDO:0015221 {source="Orphanet:95430"} ! non-syndromic respiratory or mediastinal malformation is_a: MONDO:0015505 {source="Orphanet:95430"} ! tracheal anomaly is_a: MONDO:0015930 {source="Orphanet:95430"} ! respiratory malformation is_a: MONDO:0018562 {source="Orphanet:95430", source="Orphanet:95430/inferred"} ! hereditary otorhinolaryngological malformation property_value: closeMatch http://identifiers.org/meddra/10010654 property_value: exactMatch DOID:0060313 property_value: exactMatch http://identifiers.org/mesh/D055090 property_value: exactMatch http://identifiers.org/snomedct/95467005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0948187 property_value: exactMatch NCIT:C98634 property_value: exactMatch Orphanet:95430 [Term] id: MONDO:0019817 name: congenital mitral valve insufficiency and/or stenosis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:95464"} xref: ICD10CM:Q23 {source="MONDO:equivalentTo"} xref: Orphanet:95464 {source="MONDO:equivalentTo"} is_a: EFO:0009539 {source="Orphanet:95464"} ! congenital mitral malformation property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q23 property_value: exactMatch Orphanet:95464 [Term] id: MONDO:0019820 name: univentricular cardiopathy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:95483"} xref: Orphanet:95483 {source="MONDO:equivalentTo"} is_a: EFO:0005269 {source="Orphanet:95483"} ! congenital heart malformation property_value: exactMatch Orphanet:95483 [Term] id: MONDO:0019821 name: aneurysm or dilatation of ascending aorta subset: ordo_morphological_anomaly {source="Orphanet:95484"} xref: Orphanet:95484 {source="MONDO:equivalentObsolete"} is_a: MONDO:0020293 {source="Orphanet:95484"} ! ascending aorta anomaly [Term] id: MONDO:0019822 name: arterial duct anomaly comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:95485"} synonym: "patent ductus arteriosus anomalies" EXACT [Orphanet:95485] xref: Orphanet:95485 {source="MONDO:equivalentTo"} is_a: MONDO:0020292 {source="Orphanet:95485"} ! congenital anomaly of the great arteries property_value: exactMatch Orphanet:95485 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0019824 name: non-acquired pituitary hormone deficiency subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:95488"} xref: ICD10CM:E23.0 {source="Orphanet:95488/attributed", source="Orphanet:95488/ntbt", source="MONDO:relatedTo", source="Orphanet:95488"} xref: Orphanet:95488 {source="MONDO:equivalentTo"} is_a: MONDO:0015127 {source="Orphanet:95488"} ! pituitary deficiency is_a: MONDO:0015514 {source="Orphanet:95488"} ! hereditary endocrine growth disease property_value: exactMatch Orphanet:95488 [Term] id: MONDO:0019828 name: pituitary stalk interruption syndrome def: "Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk." [Orphanet:95496] subset: gard_rare {source="GARD:0013209"} subset: ordo_morphological_anomaly {source="Orphanet:95496"} synonym: "ectopic neurohypophysis" EXACT [Orphanet:95496] synonym: "hypoplastic anterior pituitary, missing stalk, and ectopic posterior pituitary" EXACT [NCIT:C121150] synonym: "PSIS" EXACT ABBREVIATION [Orphanet:95496] xref: NCIT:C121150 {source="MONDO:equivalentTo"} xref: Orphanet:95496 {source="MONDO:equivalentTo"} xref: SCTID:715727009 {source="MONDO:equivalentTo"} xref: UMLS:C4053775 {source="NCIT:C121150", source="MONDO:equivalentTo"} xref: UMLS:CN206776 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="NCIT:C121150"} ! syndromic disease is_a: MONDO:0019824 {source="Orphanet:95496"} ! non-acquired pituitary hormone deficiency property_value: exactMatch http://identifiers.org/snomedct/715727009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4053775 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206776 property_value: exactMatch NCIT:C121150 property_value: exactMatch Orphanet:95496 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13209/pituitary-stalk-interruption-syndrome xsd:anyURI {source="GARD:0013209"} [Term] id: MONDO:0019832 name: acquired pituitary hormone deficiency def: "An instance of hypopituitarism that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] comment: Editor note: check this subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:95502"} synonym: "acquired hypopituitarism" EXACT [MONDO:patterns/acquired] xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="Orphanet:95502", source="Orphanet:95502/ntbt"} xref: Orphanet:95502 {source="MONDO:equivalentTo"} is_a: EFO:0001380 ! hypopituitarism is_a: MONDO:0015127 {source="MONDO:Redundant", source="Orphanet:95502"} ! pituitary deficiency intersection_of: EFO:0001380 ! hypopituitarism intersection_of: has_characteristic MONDO:0021141 ! acquired relationship: has_characteristic MONDO:0021141 ! acquired property_value: exactMatch Orphanet:95502 [Term] id: MONDO:0019840 name: acropectororenal dysplasia def: "Acro-pectoro-renal field defect is a very rare association of a Poland anomaly, that is characterized by unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles." [Orphanet:956] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:956"} synonym: "acro-pectoro-renal field defect" RELATED [GARD:0000511] synonym: "brachydactyly, absent pectoral muscles and agenesis/hypoplasia of kidneys" RELATED [GARD:0000511] xref: Orphanet:956 {source="MONDO:equivalentObsolete", source="GARD:0000511"} xref: SCTID:720413004 {source="MONDO:equivalentTo"} is_a: MONDO:0015856 {source="Orphanet:956"} ! syndromic breast hypoplasia/aplasia property_value: exactMatch http://identifiers.org/snomedct/720413004 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/511/acro-pectoro-renal-field-defect xsd:anyURI {source="GARD:0000511"} [Term] id: MONDO:0019844 name: pituitary hormone deficiency secondary to storage disease comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:95618"} xref: Orphanet:95618 {source="MONDO:equivalentTo"} xref: UMLS:CN206788 {source="MONDO:equivalentTo"} is_a: MONDO:0015127 {source="MONDO:cjm", source="Orphanet:95618/inferred"} ! pituitary deficiency property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206788 property_value: exactMatch Orphanet:95618 property_value: excluded_subClassOf MONDO:0019832 {source="Orphanet:95618"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo-build/pull/120 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0019846 name: acquired central diabetes insipidus def: "Acquired central diabetes insipidus (acquired CDI) is a subtype of central diabetes insipidus (CDI), characterized by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production." [Orphanet:95626] subset: ordo_clinical_subtype {source="Orphanet:95626"} synonym: "acquired CDI" EXACT [Orphanet:95626] synonym: "acquired central diabetes insipidus" EXACT [MONDO:patterns/acquired] synonym: "acquired neurogenic diabetes insipidus" EXACT [Orphanet:95626] xref: ICD10CM:E23.2 {source="MONDO:relatedTo", source="Orphanet:95626/ntbt", source="Orphanet:95626"} xref: Orphanet:95626 {source="MONDO:equivalentTo"} is_a: MONDO:0015127 ! pituitary deficiency is_a: MONDO:0100070 ! neuroendocrine disorder relationship: has_characteristic MONDO:0021141 ! acquired property_value: exactMatch Orphanet:95626 [Term] id: MONDO:0019851 name: acquired primary ovarian failure def: "An instance of primary ovarian failure that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:95709"} synonym: "acquired premature ovarian failure" RELATED [Orphanet:95709] synonym: "acquired primary ovarian failure" EXACT [MONDO:patterns/acquired] xref: Orphanet:95709 {source="MONDO:equivalentTo"} xref: SCTID:717954003 {source="MONDO:equivalentTo"} xref: UMLS:C4303540 {source="MONDO:equivalentTo"} is_a: EFO:0004266 ! primary ovarian insufficiency is_a: MONDO:0015860 {source="MONDO:Redundant", source="Orphanet:95709"} ! anomaly of puberty or/and menstrual cycle intersection_of: EFO:0004266 ! primary ovarian insufficiency intersection_of: has_characteristic MONDO:0021141 ! acquired relationship: has_characteristic MONDO:0021141 ! acquired property_value: exactMatch http://identifiers.org/snomedct/717954003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303540 property_value: exactMatch Orphanet:95709 property_value: excluded_subClassOf MONDO:0015514 {source="Orphanet:95709"} property_value: excluded_subClassOf MONDO:0019590 {source="Orphanet:95709"} [Term] id: MONDO:0019852 name: inherited primary ovarian failure def: "An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:95710"} synonym: "hereditary primary ovarian failure" EXACT [MONDO:patterns/hereditary] synonym: "inherited premature ovarian failure" EXACT [OMIMPS:311360] synonym: "non-acquired premature ovarian failure" RELATED [] xref: ICD10CM:E28.3 {source="MONDO:relatedTo", source="Orphanet:95710", source="Orphanet:95710/attributed", source="Orphanet:95710/ntbt"} xref: OMIMPS:311360 {source="MONDO:equivalentTo"} xref: Orphanet:95710 {source="MONDO:equivalentTo"} is_a: EFO:0004266 ! primary ovarian insufficiency is_a: MONDO:0015514 {source="Orphanet:95710"} ! hereditary endocrine growth disease is_a: MONDO:0016072 {source="MONDO:Redundant", source="Orphanet:95710"} ! anomaly of puberty or/and menstrual cycle of genetic origin intersection_of: EFO:0004266 ! primary ovarian insufficiency intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch https://omim.org/phenotypicSeries/PS311360 property_value: exactMatch Orphanet:95710 [Term] id: MONDO:0019854 name: thyroid ectopia def: "Thyroid ectopia is a form of thyroid dysgenesis characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth." [Orphanet:95712] subset: ordo_morphological_anomaly {source="Orphanet:95712"} xref: Orphanet:95712 {source="MONDO:equivalentTo"} is_a: MONDO:0009043 ! generalized resistance to thyroid hormone is_a: MONDO:0016409 ! primary congenital hypothyroidism property_value: exactMatch Orphanet:95712 [Term] id: MONDO:0019855 name: athyreosis def: "Athyreosis is a form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth." [Orphanet:95713] subset: ordo_morphological_anomaly {source="Orphanet:95713"} xref: Orphanet:95713 {source="MONDO:equivalentTo"} is_a: MONDO:0009043 ! generalized resistance to thyroid hormone is_a: MONDO:0016409 ! primary congenital hypothyroidism property_value: exactMatch Orphanet:95713 [Term] id: MONDO:0019860 name: thyroid hemiagenesis def: "Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth." [Orphanet:95719] subset: ordo_morphological_anomaly {source="Orphanet:95719"} xref: Orphanet:95719 {source="MONDO:equivalentTo"} xref: SCTID:715734006 {source="MONDO:equivalentTo"} xref: UMLS:C4023190 {source="MONDO:equivalentTo"} is_a: MONDO:0009043 ! generalized resistance to thyroid hormone is_a: MONDO:0016409 ! primary congenital hypothyroidism property_value: exactMatch http://identifiers.org/snomedct/715734006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4023190 property_value: exactMatch Orphanet:95719 [Term] id: MONDO:0019861 name: thyroid hypoplasia def: "Thyroid hypoplasia is a form of thyroid dysgenesis characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth." [Orphanet:95720] subset: ordo_morphological_anomaly {source="Orphanet:95720"} xref: MedDRA:10065938 {source="Orphanet:95720", source="Orphanet:95720/e"} xref: Orphanet:95720 {source="MONDO:equivalentTo"} is_a: MONDO:0009043 ! generalized resistance to thyroid hormone is_a: MONDO:0016409 ! primary congenital hypothyroidism property_value: closeMatch http://identifiers.org/meddra/10065938 property_value: exactMatch Orphanet:95720 [Term] id: MONDO:0019864 name: tetrasomy 21 def: "Tetrasomy 21 is an extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21, characterized by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Haematological malignancies are also associated and may occur earlier than in trisomy 21." [Orphanet:96055] subset: gard_rare {source="GARD:0012480"} subset: ordo_malformation_syndrome {source="Orphanet:96055"} synonym: "Isochromosome 21" EXACT [Orphanet:96055] synonym: "tetrasomy type 21" EXACT [MONDORULE:2, Orphanet:96055] xref: Orphanet:96055 {source="MONDO:equivalentTo"} xref: SCTID:764690001 {source="MONDO:equivalentTo"} is_a: MONDO:0030502 {source="https://orcid.org/0000-0001-5208-3432"} ! tetrasomy is_a: MONDO:0700124 ! chromosome 21 disorder property_value: exactMatch http://identifiers.org/snomedct/764690001 property_value: exactMatch Orphanet:96055 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12480/tetrasomy-21 xsd:anyURI {source="GARD:0012480"} [Term] id: MONDO:0019865 name: mosaic trisomy 4 def: "Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated." [Orphanet:96059] subset: ordo_malformation_syndrome {source="Orphanet:96059"} synonym: "Mosaic trisomy chromosome 4" EXACT [Orphanet:96059] synonym: "Mosaic trisomy type 4" EXACT [MONDORULE:1, Orphanet:96059] synonym: "trisomy 4 mosaicism" EXACT [Orphanet:96059] xref: Orphanet:96059 {source="MONDO:equivalentTo"} xref: SCTID:764628000 {source="MONDO:equivalentTo"} is_a: MONDO:0700011 ! chromosome 4 disorder is_a: MONDO:0700065 ! trisomy relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic property_value: exactMatch http://identifiers.org/snomedct/764628000 property_value: exactMatch Orphanet:96059 [Term] id: MONDO:0019866 name: mosaic trisomy 5 def: "Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated." [Orphanet:96060] subset: ordo_malformation_syndrome {source="Orphanet:96060"} synonym: "Mosaic trisomy chromosome 5" EXACT [Orphanet:96060] synonym: "Mosaic trisomy type 5" EXACT [MONDORULE:1, Orphanet:96060] synonym: "trisomy 5 mosaicism" EXACT [Orphanet:96060] xref: MESH:C537762 {source="MONDO:equivalentTo"} xref: Orphanet:96060 {source="MONDO:equivalentTo"} xref: SCTID:764629008 {source="MONDO:equivalentTo"} is_a: MONDO:0700012 ! chromosome 5 disorder is_a: MONDO:0700065 ! trisomy relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic property_value: exactMatch http://identifiers.org/mesh/C537762 property_value: exactMatch http://identifiers.org/snomedct/764629008 property_value: exactMatch Orphanet:96060 [Term] id: MONDO:0019867 name: mosaic trisomy 8 def: "Mosaic trisomy 8 is a chromosomal disorder defined by the presence of three copies of chromosome 8 in some cells of the organism. It is characterized by facial dysmorphism, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies." [Orphanet:96061] subset: gard_rare {source="GARD:0005359"} subset: ordo_malformation_syndrome {source="Orphanet:96061"} synonym: "Mosaic trisomy chromosome 8" RELATED [GARD:0005359] synonym: "Mosaic trisomy type 8" EXACT [MONDORULE:1, Orphanet:96061] synonym: "trisomy 8 mosaicism" RELATED [GARD:0005359] synonym: "Warkany syndrome" EXACT [Orphanet:96061] xref: MedDRA:10053916 {source="Orphanet:96061/e", source="Orphanet:96061"} xref: MESH:C537940 {source="Orphanet:96061/e", source="MONDO:equivalentTo", source="Orphanet:96061"} xref: Orphanet:96061 {source="MONDO:equivalentTo"} xref: SCTID:717335009 {source="MONDO:equivalentTo"} is_a: MONDO:0043452 ! chromosome 8, trisomy relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic property_value: closeMatch http://identifiers.org/meddra/10053916 property_value: exactMatch http://identifiers.org/mesh/C537940 property_value: exactMatch http://identifiers.org/snomedct/717335009 property_value: exactMatch Orphanet:96061 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5359/mosaic-trisomy-8 xsd:anyURI {source="GARD:0005359"} [Term] id: MONDO:0019868 name: mosaic trisomy 10 def: "Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually ocurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia." [Orphanet:96063] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:96063"} synonym: "chromosome 10, uniparental disomy" RELATED [GARD:0005406] synonym: "mosaic trisomy 10" EXACT [GARD:0005406] synonym: "Mosaic trisomy chromosome 10" EXACT [Orphanet:96063] synonym: "Mosaic trisomy type 10" EXACT [MONDORULE:2, Orphanet:96063] synonym: "trisomy 10 mosaicism" EXACT [Orphanet:96063] synonym: "uniparental disomy of 10" RELATED [GARD:0005406] xref: MESH:C538292 {source="MONDO:equivalentTo"} xref: Orphanet:96063 {source="MONDO:equivalentTo"} xref: SCTID:764461004 {source="MONDO:equivalentTo"} xref: UMLS:CN035866 {source="MONDO:equivalentTo"} is_a: MONDO:0700017 ! chromosome 10 disorder is_a: MONDO:0700065 ! trisomy relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic property_value: exactMatch http://identifiers.org/mesh/C538292 property_value: exactMatch http://identifiers.org/snomedct/764461004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN035866 property_value: exactMatch Orphanet:96063 [Term] id: MONDO:0019869 name: mosaic trisomy 22 def: "Mosaic trisomy 22 isa chromosome disorder in which chromosome 22 is present three times, instead of the usual two times, in some cells of the body. The range and severity of the disorder can vary widely. Some of the features that have been associated with this conditioninclude growth delays,cognitive deficiencies, unequal developmentof the two sides of the body (hemidystrophy), webbing of the neck, abnormal deviation of the elbows when extended (cubitus valgus), multiple pigmented moles or birthmarks, distinctive malformations of the head and face, and other physical abnormalities. A number of cases of children with mosaic trisomy 22 and normal growth and development have also been described." [https://rarediseases.info.nih.gov/diseases/6085/mosaic-trisomy-22] subset: gard_rare {source="GARD:0006085"} subset: ordo_malformation_syndrome {source="Orphanet:96068"} synonym: "Mosaic trisomy chromosome 22" RELATED [GARD:0006085] synonym: "Mosaic trisomy type 22" EXACT [MONDORULE:2, Orphanet:96068] synonym: "trisomy 22 mosaicism" RELATED [GARD:0006085] xref: MESH:C536796 {source="Orphanet:96068", source="MONDO:equivalentTo", source="Orphanet:96068/e"} xref: Orphanet:96068 {source="MONDO:equivalentTo"} xref: SCTID:764625002 {source="MONDO:equivalentTo"} is_a: MONDO:0022759 ! trisomy 22 relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic property_value: exactMatch http://identifiers.org/mesh/C536796 property_value: exactMatch http://identifiers.org/snomedct/764625002 property_value: exactMatch Orphanet:96068 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6085/mosaic-trisomy-22 xsd:anyURI {source="GARD:0006085"} [Term] id: MONDO:0019870 name: distal trisomy 1p36 def: "Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported." [Orphanet:96069] subset: ordo_malformation_syndrome {source="Orphanet:96069"} synonym: "distal duplication 1p36" EXACT [Orphanet:96069] synonym: "distal trisomy type 1p36" EXACT [MONDORULE:7, Orphanet:96069] synonym: "telomeric duplication 1p36" EXACT [Orphanet:96069] synonym: "trisomy 1pter" EXACT [Orphanet:96069] xref: Orphanet:96069 {source="MONDO:equivalentTo"} xref: SCTID:766053003 {source="MONDO:equivalentTo"} xref: UMLS:CN244049 {source="MONDO:equivalentTo"} is_a: MONDO:0017012 {source="Orphanet:96069"} ! partial duplication of the short arm of chromosome 1 property_value: exactMatch http://identifiers.org/snomedct/766053003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244049 property_value: exactMatch Orphanet:96069 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI [Term] id: MONDO:0019871 name: distal trisomy 2p def: "Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies." [Orphanet:96070] subset: ordo_malformation_syndrome {source="Orphanet:96070"} synonym: "distal duplication 2p" EXACT [Orphanet:96070] synonym: "distal trisomy type 2p" EXACT [MONDORULE:4, Orphanet:96070] synonym: "telomeric duplication 2p" EXACT [Orphanet:96070] synonym: "trisomy 2pter" EXACT [Orphanet:96070] xref: Orphanet:96070 {source="MONDO:equivalentTo"} xref: SCTID:764518004 {source="MONDO:equivalentTo"} is_a: MONDO:0016939 {source="Orphanet:96070"} ! partial duplication of the short arm of chromosome 2 property_value: exactMatch http://identifiers.org/snomedct/764518004 property_value: exactMatch Orphanet:96070 property_value: excluded_subClassOf MONDO:0020226 {source="Orphanet:96070"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI [Term] id: MONDO:0019872 name: distal trisomy 3p def: "Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers." [Orphanet:96071] subset: ordo_malformation_syndrome {source="Orphanet:96071"} synonym: "distal duplication 3p" EXACT [Orphanet:96071] synonym: "distal trisomy type 3p" EXACT [MONDORULE:4, Orphanet:96071] synonym: "telomeric duplication 3p" EXACT [Orphanet:96071] synonym: "trisomy 3pter" EXACT [Orphanet:96071] xref: Orphanet:96071 {source="MONDO:equivalentTo"} xref: SCTID:764519007 {source="MONDO:equivalentTo"} is_a: MONDO:0016940 {source="Orphanet:96071"} ! partial duplication of the short arm of chromosome 3 property_value: exactMatch http://identifiers.org/snomedct/764519007 property_value: exactMatch Orphanet:96071 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI [Term] id: MONDO:0019873 name: 4p16.3 microduplication syndrome def: "4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported." [Orphanet:96072] subset: ordo_malformation_syndrome {source="Orphanet:96072"} synonym: "distal duplication 4p" EXACT [Orphanet:96072] synonym: "distal trisomy 4p" EXACT [Orphanet:96072] synonym: "telomeric duplication 4p" EXACT [Orphanet:96072] synonym: "trisomy 4pter" EXACT [Orphanet:96072] xref: Orphanet:96072 {source="MONDO:equivalentTo"} xref: SCTID:726706008 {source="MONDO:equivalentTo"} xref: UMLS:C4512053 {source="MONDO:equivalentTo"} xref: UMLS:CN206808 {source="MONDO:equivalentTo"} is_a: MONDO:0016941 {source="Orphanet:96072"} ! partial duplication of the short arm of chromosome 4 is_a: MONDO:0019716 ! overgrowth syndrome property_value: exactMatch http://identifiers.org/snomedct/726706008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4512053 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206808 property_value: exactMatch Orphanet:96072 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI [Term] id: MONDO:0019874 name: distal trisomy 7p def: "Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported." [Orphanet:96074] subset: ordo_malformation_syndrome {source="Orphanet:96074"} synonym: "distal duplication 7p" EXACT [Orphanet:96074] synonym: "distal trisomy type 7p" EXACT [MONDORULE:4, Orphanet:96074] synonym: "telomeric duplication 7p" EXACT [Orphanet:96074] synonym: "trisomy 7pter" EXACT [Orphanet:96074] xref: Orphanet:96074 {source="MONDO:equivalentTo"} xref: SCTID:763276000 {source="MONDO:equivalentTo"} is_a: MONDO:0016944 {source="Orphanet:96074"} ! partial duplication of the short arm of chromosome 7 property_value: exactMatch http://identifiers.org/snomedct/763276000 property_value: exactMatch Orphanet:96074 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI [Term] id: MONDO:0019875 name: Beckwith-Wiedemann syndrome due to 11p15 microduplication subset: ordo_etiological_subtype {source="Orphanet:96076"} xref: Orphanet:96076 {source="MONDO:equivalentTo"} xref: UMLS:CN206810 {source="MONDO:equivalentTo"} is_a: MONDO:0007534 {source="Orphanet:96076"} ! Beckwith-Wiedemann syndrome is_a: MONDO:0016948 {source="Orphanet:96076"} ! partial duplication of the short arm of chromosome 11 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206810 property_value: exactMatch Orphanet:96076 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI [Term] id: MONDO:0019876 name: 8p inverted duplication/deletion syndrome def: "8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum." [Orphanet:96092] subset: ordo_malformation_syndrome {source="Orphanet:96092"} synonym: "Invdupdel(8p)" EXACT [Orphanet:96092] synonym: "inverted 8p duplication/deletion syndrome" EXACT [Orphanet:96092] xref: Orphanet:96092 {source="MONDO:equivalentTo"} xref: SCTID:718188007 {source="MONDO:equivalentTo"} xref: UMLS:CN206812 {source="MONDO:equivalentTo"} is_a: MONDO:0700015 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 8 disorder property_value: exactMatch http://identifiers.org/snomedct/718188007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206812 property_value: exactMatch Orphanet:96092 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4272 xsd:anyURI [Term] id: MONDO:0019877 name: distal trisomy 2q def: "Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed." [Orphanet:96094] subset: ordo_malformation_syndrome {source="Orphanet:96094"} synonym: "distal duplication 2q" EXACT [Orphanet:96094] synonym: "distal trisomy type 2q" EXACT [MONDORULE:4, Orphanet:96094] synonym: "telomeric duplication 2q" EXACT [Orphanet:96094] synonym: "trisomy 2qter" EXACT [Orphanet:96094] xref: Orphanet:96094 {source="MONDO:equivalentTo"} xref: SCTID:763272003 {source="MONDO:equivalentTo"} is_a: MONDO:0016953 {source="Orphanet:96094"} ! partial duplication of the long arm of chromosome 2 property_value: exactMatch http://identifiers.org/snomedct/763272003 property_value: exactMatch Orphanet:96094 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI [Term] id: MONDO:0019878 name: 3q26 microduplication syndrome def: "3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations." [Orphanet:96095] subset: ordo_malformation_syndrome {source="Orphanet:96095"} synonym: "Cornelia de Lange-like syndrome" EXACT [Orphanet:96095] synonym: "dup(3)(q26)" EXACT [Orphanet:96095] synonym: "dup(3q) syndrome" EXACT [Orphanet:96095] synonym: "trisomy 3q26" EXACT [Orphanet:96095] xref: Orphanet:96095 {source="MONDO:equivalentTo"} xref: UMLS:CN206814 {source="MONDO:equivalentTo"} is_a: MONDO:0016954 {source="Orphanet:96095"} ! partial duplication of the long arm of chromosome 3 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206814 property_value: exactMatch Orphanet:96095 property_value: excluded_subClassOf MONDO:0020226 {source="Orphanet:96095"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI [Term] id: MONDO:0019879 name: distal trisomy 4q def: "Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported." [Orphanet:96096] subset: ordo_malformation_syndrome {source="Orphanet:96096"} synonym: "distal duplication 4q" EXACT [Orphanet:96096] synonym: "distal trisomy type 4q" EXACT [MONDORULE:4, Orphanet:96096] synonym: "telomeric duplication 4q" EXACT [Orphanet:96096] synonym: "trisomy 4qter" EXACT [Orphanet:96096] xref: Orphanet:96096 {source="MONDO:equivalentTo"} xref: SCTID:763273008 {source="MONDO:equivalentTo"} is_a: MONDO:0016955 {source="Orphanet:96096"} ! partial duplication of the long arm of chromosome 4 property_value: exactMatch http://identifiers.org/snomedct/763273008 property_value: exactMatch Orphanet:96096 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI [Term] id: MONDO:0019880 name: distal trisomy 5q def: "Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism)." [Orphanet:96097] subset: ordo_malformation_syndrome {source="Orphanet:96097"} synonym: "distal duplication 5q" EXACT [Orphanet:96097] synonym: "distal trisomy type 5q" EXACT [MONDORULE:4, Orphanet:96097] synonym: "telomeric duplication 5q" EXACT [Orphanet:96097] synonym: "trisomy 5qter" EXACT [Orphanet:96097] xref: Orphanet:96097 {source="MONDO:equivalentTo"} xref: SCTID:763274002 {source="MONDO:equivalentTo"} is_a: MONDO:0016956 {source="Orphanet:96097"} ! partial trisomy of the long arm of chromosome 5 property_value: exactMatch http://identifiers.org/snomedct/763274002 property_value: exactMatch Orphanet:96097 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI [Term] id: MONDO:0019881 name: distal trisomy 6q def: "Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported." [Orphanet:96098] subset: ordo_malformation_syndrome {source="Orphanet:96098"} synonym: "distal duplication 6q" EXACT [Orphanet:96098] synonym: "distal trisomy type 6q" EXACT [MONDORULE:4, Orphanet:96098] synonym: "telomeric duplication 6q" EXACT [Orphanet:96098] synonym: "trisomy 6qter" EXACT [Orphanet:96098] xref: MESH:C537810 {source="MONDO:equivalentTo"} xref: Orphanet:96098 {source="MONDO:equivalentTo"} xref: SCTID:763275001 {source="MONDO:equivalentTo"} is_a: MONDO:0016957 {source="Orphanet:96098"} ! partial duplication of the long arm of chromosome 6 property_value: exactMatch http://identifiers.org/mesh/C537810 property_value: exactMatch http://identifiers.org/snomedct/763275001 property_value: exactMatch Orphanet:96098 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI [Term] id: MONDO:0019882 name: distal trisomy 8q def: "Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures)." [Orphanet:96100] subset: ordo_malformation_syndrome {source="Orphanet:96100"} synonym: "distal duplication 8q" EXACT [Orphanet:96100] synonym: "distal trisomy type 8q" EXACT [MONDORULE:4, Orphanet:96100] synonym: "telomeric duplication 8q" EXACT [Orphanet:96100] synonym: "trisomy 8qter" EXACT [Orphanet:96100] xref: Orphanet:96100 {source="MONDO:equivalentTo"} xref: SCTID:763277009 {source="MONDO:equivalentTo"} is_a: MONDO:0016959 {source="Orphanet:96100"} ! partial duplication of the long arm of chromosome 8 property_value: exactMatch http://identifiers.org/snomedct/763277009 property_value: exactMatch Orphanet:96100 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI [Term] id: MONDO:0019883 name: distal trisomy 9q def: "Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed." [Orphanet:96101] subset: ordo_malformation_syndrome {source="Orphanet:96101"} synonym: "distal duplication 9q" EXACT [Orphanet:96101] synonym: "distal trisomy type 9q" EXACT [MONDORULE:4, Orphanet:96101] synonym: "telomeric duplication 9q" EXACT [Orphanet:96101] synonym: "trisomy 9qter" EXACT [Orphanet:96101] xref: Orphanet:96101 {source="MONDO:equivalentTo"} xref: SCTID:764520001 {source="MONDO:equivalentTo"} is_a: MONDO:0016960 {source="Orphanet:96101"} ! partial trisomy of the long arm of chromosome 9 property_value: exactMatch http://identifiers.org/snomedct/764520001 property_value: exactMatch Orphanet:96101 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI [Term] id: MONDO:0019884 name: distal trisomy 10q def: "Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay." [Orphanet:96102] subset: ordo_malformation_syndrome {source="Orphanet:96102"} synonym: "distal duplication 10q" EXACT [Orphanet:96102] synonym: "distal trisomy type 10q" EXACT [MONDORULE:4, Orphanet:96102] synonym: "telomeric duplication 10q" EXACT [Orphanet:96102] synonym: "trisomy 10qter" EXACT [Orphanet:96102] xref: MESH:C538087 {source="Orphanet:96102", source="MONDO:equivalentTo", source="Orphanet:96102/e"} xref: Orphanet:96102 {source="MONDO:equivalentTo"} xref: SCTID:718689000 {source="MONDO:equivalentTo"} is_a: MONDO:0016961 {source="Orphanet:96102"} ! partial duplication of the long arm of chromosome 10 property_value: exactMatch http://identifiers.org/mesh/C538087 property_value: exactMatch http://identifiers.org/snomedct/718689000 property_value: exactMatch Orphanet:96102 property_value: excluded_subClassOf MONDO:0020226 {source="Orphanet:96102"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI [Term] id: MONDO:0019885 name: distal trisomy 11q def: "Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported." [Orphanet:96103] subset: ordo_malformation_syndrome {source="Orphanet:96103"} synonym: "distal duplication 11q" EXACT [Orphanet:96103] synonym: "distal trisomy type 11q" EXACT [MONDORULE:4, Orphanet:96103] synonym: "telomeric duplication 11q" EXACT [Orphanet:96103] synonym: "trisomy 11qter" EXACT [Orphanet:96103] xref: MESH:C538294 {source="Orphanet:96103", source="MONDO:equivalentTo", source="Orphanet:96103/e"} xref: Orphanet:96103 {source="MONDO:equivalentTo"} xref: SCTID:764447009 {source="MONDO:equivalentTo"} is_a: MONDO:0022173 {source="Orphanet:96103"} ! chromosome 11q trisomy property_value: exactMatch http://identifiers.org/mesh/C538294 property_value: exactMatch http://identifiers.org/snomedct/764447009 property_value: exactMatch Orphanet:96103 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI [Term] id: MONDO:0019886 name: distal trisomy 13q def: "Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported." [Orphanet:96105] subset: ordo_malformation_syndrome {source="Orphanet:96105"} synonym: "distal duplication 13q" EXACT [Orphanet:96105] synonym: "distal trisomy type 13q" EXACT [MONDORULE:4, Orphanet:96105] synonym: "telomeric duplication 13q" EXACT [Orphanet:96105] synonym: "trisomy 13qter" EXACT [Orphanet:96105] xref: Orphanet:96105 {source="MONDO:equivalentTo"} xref: SCTID:764454003 {source="MONDO:equivalentTo"} is_a: MONDO:0022177 {source="Orphanet:96105"} ! chromosome 13q trisomy property_value: exactMatch http://identifiers.org/snomedct/764454003 property_value: exactMatch Orphanet:96105 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI [Term] id: MONDO:0019887 name: distal trisomy 16q def: "Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported." [Orphanet:96106] subset: ordo_malformation_syndrome {source="Orphanet:96106"} synonym: "distal duplication 16q" EXACT [Orphanet:96106] synonym: "distal trisomy type 16q" EXACT [MONDORULE:4, Orphanet:96106] synonym: "telomeric duplication 16q" EXACT [Orphanet:96106] synonym: "trisomy 16qter" EXACT [Orphanet:96106] xref: Orphanet:96106 {source="MONDO:equivalentTo"} xref: SCTID:764459008 {source="MONDO:equivalentTo"} is_a: MONDO:0016966 {source="Orphanet:96106"} ! partial trisomy of the long arm of chromosome 16 property_value: exactMatch http://identifiers.org/snomedct/764459008 property_value: exactMatch Orphanet:96106 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI [Term] id: MONDO:0019888 name: distal trisomy 20q def: "Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported." [Orphanet:96107] subset: ordo_malformation_syndrome {source="Orphanet:96107"} synonym: "distal duplication 20q" EXACT [Orphanet:96107] synonym: "distal trisomy type 20q" EXACT [MONDORULE:4, Orphanet:96107] synonym: "telomeric duplication 20q" EXACT [Orphanet:96107] synonym: "trisomy 20qter" EXACT [Orphanet:96107] xref: Orphanet:96107 {source="MONDO:equivalentTo"} xref: SCTID:764500002 {source="MONDO:equivalentTo"} is_a: MONDO:0016970 {source="Orphanet:96107"} ! partial trisomy of the long arm of chromosome 20 property_value: exactMatch http://identifiers.org/snomedct/764500002 property_value: exactMatch Orphanet:96107 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI [Term] id: MONDO:0019889 name: distal trisomy 22q def: "Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disabilty and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported." [Orphanet:96109] subset: ordo_malformation_syndrome {source="Orphanet:96109"} synonym: "distal duplication 22q" EXACT [Orphanet:96109] synonym: "distal trisomy type 22q" EXACT [MONDORULE:4, Orphanet:96109] synonym: "telomeric duplication 22q" EXACT [Orphanet:96109] synonym: "trisomy 22qter" EXACT [Orphanet:96109] xref: Orphanet:96109 {source="MONDO:equivalentTo"} xref: SCTID:764512003 {source="MONDO:equivalentTo"} is_a: MONDO:0016972 {source="Orphanet:96109"} ! partial duplication of the long arm of chromosome 22 property_value: exactMatch http://identifiers.org/snomedct/764512003 property_value: exactMatch Orphanet:96109 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI [Term] id: MONDO:0019890 name: non-distal trisomy 9q def: "Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported." [Orphanet:96112] subset: ordo_malformation_syndrome {source="Orphanet:96112"} synonym: "non-distal duplication 9q" EXACT [Orphanet:96112] synonym: "non-distal trisomy type 9q" EXACT [MONDORULE:4, Orphanet:96112] synonym: "non-telomeric trisomy 9q" EXACT [Orphanet:96112] xref: Orphanet:96112 {source="MONDO:equivalentTo"} xref: SCTID:764997000 {source="MONDO:equivalentTo"} is_a: MONDO:0016960 {source="Orphanet:96112"} ! partial trisomy of the long arm of chromosome 9 property_value: exactMatch http://identifiers.org/snomedct/764997000 property_value: exactMatch Orphanet:96112 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI [Term] id: MONDO:0019891 name: monosomy 22 subset: ordo_malformation_syndrome {source="Orphanet:96123"} synonym: "Del(22)" EXACT [Orphanet:96123] synonym: "deletion 22" EXACT [Orphanet:96123] synonym: "monosomy type 22" EXACT [MONDORULE:2, Orphanet:96123] xref: NCIT:C36461 {source="MONDO:relatedTo", source="MONDO:otherHierarchy"} xref: Orphanet:96123 {source="MONDO:equivalentTo"} xref: UMLS:C0795878 {source="MONDO:equivalentTo"} is_a: MONDO:0020639 ! monosomy is_a: MONDO:0700026 ! chromosome 22 disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795878 property_value: exactMatch Orphanet:96123 property_value: relatedMatch NCIT:C36461 [Term] id: MONDO:0019892 name: distal monosomy 7p subset: ordo_malformation_syndrome {source="Orphanet:96126"} synonym: "distal deletion 7p" EXACT [Orphanet:96126] synonym: "distal monosomy type 7p" EXACT [MONDORULE:4, Orphanet:96126] synonym: "monosomy 7pter" EXACT [Orphanet:96126] synonym: "telomeric deletion 7p" EXACT [Orphanet:96126] xref: Orphanet:96126 {source="MONDO:equivalentTo"} is_a: MONDO:0016889 {source="Orphanet:96126"} ! partial deletion of the short arm of chromosome 7 property_value: exactMatch Orphanet:96126 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0019893 name: distal monosomy 19p13.3 def: "Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation)." [Orphanet:96129] subset: ordo_malformation_syndrome {source="Orphanet:96129"} synonym: "distal deletion 19p" EXACT [Orphanet:96129] synonym: "telomeric deletion 19p" EXACT [Orphanet:96129] xref: Orphanet:96129 {source="MONDO:equivalentTo"} is_a: MONDO:0016897 {source="Orphanet:96129"} ! partial deletion of the short arm of chromosome 19 property_value: exactMatch Orphanet:96129 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0019895 name: distal monosomy 4q subset: ordo_malformation_syndrome {source="Orphanet:96145"} synonym: "distal deletion 4q" EXACT [Orphanet:96145] synonym: "distal monosomy type 4q" EXACT [MONDORULE:4, Orphanet:96145] synonym: "monosomy 4qter" EXACT [Orphanet:96145] synonym: "telomeric deletion 4q" EXACT [Orphanet:96145] xref: Orphanet:96145 {source="MONDO:equivalentTo"} is_a: MONDO:0016903 {source="Orphanet:96145"} ! partial deletion of the long arm of chromosome 4 property_value: exactMatch Orphanet:96145 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0019896 name: Kleefstra syndrome due to 9q34 microdeletion subset: ordo_etiological_subtype {source="Orphanet:96147"} synonym: "9q subtelomeric deletion syndrome" EXACT [DECIPHER:52, Orphanet:96147] synonym: "9qSTDS" EXACT [Orphanet:96147] synonym: "Kleefstra syndrome due to 9q subtelomeric deletion" EXACT [Orphanet:96147] synonym: "Kleefstra syndrome due to del(9)(q34)" EXACT [Orphanet:96147] synonym: "Kleefstra syndrome due to monosomy 9q34" EXACT [Orphanet:96147] xref: DECIPHER:52 {source="https://orcid.org/0009-0001-6494-4831", source="MONDO:equivalentTo"} xref: Orphanet:96147 {source="MONDO:equivalentTo"} xref: UMLS:CN206831 {source="MONDO:equivalentTo"} is_a: MONDO:0016908 {source="Orphanet:96147"} ! partial monosomy of the long arm of chromosome 9 is_a: MONDO:0027407 {source="Orphanet:96147", source="https://github.com/monarch-initiative/mondo/issues/1063"} ! Kleefstra syndrome 1 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206831 property_value: exactMatch Orphanet:96147 property_value: excluded_subClassOf MONDO:0005027 {source="MONDO:0015652-obsoleted"} property_value: excluded_subClassOf MONDO:0012455 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6311 xsd:anyURI [Term] id: MONDO:0019897 name: distal monosomy 12q subset: ordo_malformation_syndrome {source="Orphanet:96149"} synonym: "distal deletion 12q" EXACT [Orphanet:96149] synonym: "distal monosomy type 12q" EXACT [MONDORULE:4, Orphanet:96149] synonym: "monosomy 12qter" EXACT [Orphanet:96149] synonym: "telomeric deletion 12q" EXACT [Orphanet:96149] xref: Orphanet:96149 {source="MONDO:equivalentTo"} is_a: MONDO:0016877 {source="Orphanet:96149"} ! partial deletion of the long arm of chromosome 12 property_value: exactMatch Orphanet:96149 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0019898 name: distal monosomy 14q def: "Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported." [Orphanet:96150] subset: ordo_malformation_syndrome {source="Orphanet:96150"} synonym: "distal deletion 14q" EXACT [Orphanet:96150] synonym: "distal monosomy type 14q" EXACT [MONDORULE:4, Orphanet:96150] synonym: "telomeric deletion 14q" EXACT [Orphanet:96150] xref: Orphanet:96150 {source="MONDO:equivalentTo"} is_a: MONDO:0016912 {source="Orphanet:96150"} ! partial deletion of the long arm of chromosome 14 property_value: exactMatch Orphanet:96150 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0019899 name: obsolete distal monosomy 20q synonym: "distal deletion 20q" EXACT [Orphanet:96152] synonym: "distal monosomy type 20q" EXACT [MONDORULE:4, Orphanet:96152] synonym: "monosomy 20qter" EXACT [Orphanet:96152] synonym: "telomeric deletion 20q" EXACT [Orphanet:96152] xref: Orphanet:96152 {source="MONDO:obsoleteEquivalentObsolete"} property_value: exactMatch Orphanet:96152 property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeObsoleteSource"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5767 xsd:anyURI is_obsolete: true consider: MONDO:0016843 [Term] id: MONDO:0019900 name: non-distal monosomy 12q subset: ordo_malformation_syndrome {source="Orphanet:96160"} synonym: "non-distal deletion 12q" EXACT [Orphanet:96160] synonym: "non-distal monosomy type 12q" EXACT [MONDORULE:4, Orphanet:96160] synonym: "non-telomeric monosomy 12q" EXACT [Orphanet:96160] xref: Orphanet:96160 {source="MONDO:equivalentTo"} is_a: MONDO:0016877 {source="Orphanet:96160"} ! partial deletion of the long arm of chromosome 12 property_value: exactMatch Orphanet:96160 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0019901 name: non-distal monosomy 20q subset: ordo_malformation_syndrome {source="Orphanet:96164"} synonym: "non-distal deletion 20q" EXACT [Orphanet:96164] synonym: "non-distal monosomy type 20q" EXACT [MONDORULE:4, Orphanet:96164] synonym: "non-telomeric monosomy 20q" EXACT [Orphanet:96164] xref: Orphanet:96164 {source="MONDO:equivalentObsolete"} is_a: MONDO:0016918 {source="Orphanet:96164"} ! partial deletion of the long arm of chromosome 20 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0019902 name: monosomy 13q34 def: "Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum." [Orphanet:96168] subset: ordo_malformation_syndrome {source="Orphanet:96168"} synonym: "Del(13)(q34)" EXACT [Orphanet:96168] synonym: "distal deletion 13q34" EXACT [Orphanet:96168] synonym: "monosomy type 13q34" EXACT [MONDORULE:7, Orphanet:96168] synonym: "subtelomeric deletion 13q34" EXACT [Orphanet:96168] xref: Orphanet:96168 {source="MONDO:equivalentTo"} xref: SCTID:766716004 {source="MONDO:equivalentTo"} is_a: MONDO:0015246 {source="Orphanet:96168"} ! syndromic anorectal malformation is_a: MONDO:0016911 {source="Orphanet:96168"} ! partial deletion of the long arm of chromosome 13 property_value: exactMatch http://identifiers.org/snomedct/766716004 property_value: exactMatch Orphanet:96168 property_value: excluded_subClassOf MONDO:0020226 {source="Orphanet:96168"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0019903 name: ring chromosome 2 def: "Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (incl. microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism)." [Orphanet:96171] subset: gard_rare {source="GARD:0010837"} subset: ordo_malformation_syndrome {source="Orphanet:96171"} synonym: "chromosome 2 ring" RELATED [GARD:0010837] synonym: "R2" RELATED ABBREVIATION [GARD:0010837] synonym: "Ring 2" RELATED [GARD:0010837] synonym: "Ring chromosome 2 syndrome" RELATED [Orphanet:96171] synonym: "Ring chromosome type 2" EXACT [MONDORULE:1, Orphanet:96171] synonym: "rose cluster 2" EXACT [NCIT:C121981] xref: NCIT:C121981 {source="MONDO:equivalentTo"} xref: Orphanet:96171 {source="MONDO:equivalentTo"} xref: SCTID:765485000 {source="MONDO:equivalentTo"} xref: UMLS:C4707448 {source="MONDO:equivalentTo"} is_a: MONDO:0700009 ! chromosome 2 disorder is_a: MONDO:0700091 ! ring chromosome disorder property_value: exactMatch http://identifiers.org/snomedct/765485000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4707448 property_value: exactMatch NCIT:C121981 property_value: exactMatch Orphanet:96171 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10837/ring-chromosome-2 xsd:anyURI {source="GARD:0010837"} [Term] id: MONDO:0019904 name: ring chromosome 3 def: "Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (incl. triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (i.e. clinodacytyly, brachydactyly), café-au-lait patches and hypospadias." [Orphanet:96172] subset: gard_rare {source="GARD:0010839"} subset: ordo_malformation_syndrome {source="Orphanet:96172"} synonym: "chromosome 3 ring" RELATED [GARD:0010839] synonym: "R3" RELATED ABBREVIATION [GARD:0010839] synonym: "Ring 3" RELATED [GARD:0010839] synonym: "Ring chromosome 3 syndrome" RELATED [Orphanet:96172] synonym: "Ring chromosome type 3" EXACT [MONDORULE:1, Orphanet:96172] synonym: "rose cluster 3" EXACT [NCIT:C121982] xref: NCIT:C121982 {source="MONDO:equivalentTo"} xref: Orphanet:96172 {source="MONDO:equivalentTo"} xref: SCTID:765486004 {source="MONDO:equivalentTo"} xref: UMLS:C4050314 {source="MONDO:equivalentTo"} is_a: MONDO:0700010 ! chromosome 3 disorder is_a: MONDO:0700091 ! ring chromosome disorder property_value: exactMatch http://identifiers.org/snomedct/765486004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4050314 property_value: exactMatch NCIT:C121982 property_value: exactMatch Orphanet:96172 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10839/ring-chromosome-3 xsd:anyURI {source="GARD:0010839"} [Term] id: MONDO:0019905 name: ring chromosome 9 def: "Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies." [Orphanet:96173] subset: gard_rare {source="GARD:0001348"} subset: ordo_malformation_syndrome {source="Orphanet:96173"} synonym: "chromosome 9 ring" RELATED [GARD:0001348] synonym: "r9" RELATED [GARD:0001348] synonym: "Ring 9" EXACT [GARD:0001348, Orphanet:96173] synonym: "Ring chromosome 9 syndrome" RELATED [Orphanet:96173] synonym: "Ring chromosome type 9" EXACT [MONDORULE:1, Orphanet:96173] xref: MESH:C538022 {source="Orphanet:96173/e", source="MONDO:equivalentTo", source="Orphanet:96173"} xref: Orphanet:96173 {source="MONDO:equivalentTo"} xref: SCTID:60650002 {source="MONDO:equivalentTo"} xref: UMLS:CN036105 {source="MONDO:equivalentTo"} is_a: MONDO:0700016 ! chromosome 9 disorder is_a: MONDO:0700091 ! ring chromosome disorder property_value: exactMatch http://identifiers.org/mesh/C538022 property_value: exactMatch http://identifiers.org/snomedct/60650002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN036105 property_value: exactMatch Orphanet:96173 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1348/ring-chromosome-9 xsd:anyURI {source="GARD:0001348"} [Term] id: MONDO:0019906 name: ring chromosome 11 def: "Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported." [Orphanet:96175] subset: gard_rare {source="GARD:0010846"} subset: ordo_malformation_syndrome {source="Orphanet:96175"} synonym: "chromosome 11 ring" RELATED [GARD:0010846] synonym: "r(11) syndrome" EXACT [Orphanet:96175] synonym: "r11" RELATED [GARD:0010846] synonym: "RC11" EXACT ABBREVIATION [Orphanet:96175] synonym: "Ring 11" RELATED [GARD:0010846] synonym: "Ring chromosome 11 syndrome" RELATED [Orphanet:96175] synonym: "Ring chromosome type 11" EXACT [MONDORULE:2, Orphanet:96175] xref: EFO:0002849 {source="MONDO:equivalentTo"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:96175 {source="MONDO:equivalentTo"} xref: SCTID:111310003 {source="MONDO:equivalentTo"} xref: UMLS:C0265444 {source="Orphanet:96175/e", source="MONDO:equivalentTo", source="Orphanet:96175"} is_a: MONDO:0700018 ! chromosome 11 disorder is_a: MONDO:0700091 ! ring chromosome disorder property_value: exactMatch http://identifiers.org/snomedct/111310003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265444 property_value: exactMatch Orphanet:96175 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10846/ring-chromosome-11 xsd:anyURI {source="GARD:0010846"} [Term] id: MONDO:0019907 name: ring chromosome 13 def: "Ring chromosome 13 is a chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia." [Orphanet:96176] subset: gard_rare {source="GARD:0006069"} subset: ordo_malformation_syndrome {source="Orphanet:96176"} synonym: "chromosome 13 ring" RELATED [GARD:0006069] synonym: "R13" RELATED ABBREVIATION [GARD:0006069] synonym: "Ring 13" RELATED [GARD:0006069] synonym: "Ring chromosome 13 syndrome" RELATED [Orphanet:96176] synonym: "Ring chromosome type 13" EXACT [MONDORULE:2, Orphanet:96176] xref: MESH:C538303 {source="Orphanet:96176/e", source="MONDO:equivalentTo", source="Orphanet:96176"} xref: Orphanet:96176 {source="MONDO:equivalentTo"} xref: SCTID:726723004 {source="MONDO:equivalentTo"} is_a: MONDO:0015246 {source="Orphanet:96176"} ! syndromic anorectal malformation is_a: MONDO:0700020 ! chromosome 13 disorder is_a: MONDO:0700091 ! ring chromosome disorder property_value: exactMatch http://identifiers.org/mesh/C538303 property_value: exactMatch http://identifiers.org/snomedct/726723004 property_value: exactMatch Orphanet:96176 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6069/ring-chromosome-13 xsd:anyURI {source="GARD:0006069"} [Term] id: MONDO:0019908 name: ring chromosome 15 def: "Ring chromosome 15 is a chromosome abnormality that affects growth, learning, and speech. People with ring chromosome 15 often have growth delays before and after birth, resulting in short stature; varying degrees of intellectual disability ; low muscle tone (hypotonia); craniofacial malformations; and limb abnormalities. Other symptoms might include congenital heart defects, kidney problems, congenital dislocation of the hips, and cafe-au-lait spots. Ring chromosome 15 is caused by an abnormal chromosome known as a ring chromosome 15 or r(15). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and the broken ends fuse together. The features of ring chromosome 15 appear to result from the loss (deletion) of genetic material from the long (q) arm of chromosome 15. Ring chromosome 15 is usually caused by spontaneous (de novo) errors very early in embryonic development. In rare cases, it is passed through families, either from a parent who also has a ring chromosome 15, or from a parent who has a balanced translocation. Treatment for ring chromosome 15 is focused on addressing the symptoms present in each individual and may require a team of medical specialists." [https://rarediseases.info.nih.gov/diseases/1328/ring-chromosome-15] subset: gard_rare {source="GARD:0001328"} subset: ordo_malformation_syndrome {source="Orphanet:96177"} synonym: "chromosome 15 ring" RELATED [GARD:0001328] synonym: "R15" RELATED ABBREVIATION [GARD:0001328] synonym: "Ring 15" RELATED [GARD:0001328] synonym: "Ring chromosome 15 syndrome" RELATED [Orphanet:96177] synonym: "Ring chromosome type 15" EXACT [MONDORULE:2, Orphanet:96177] xref: MESH:C538035 {source="Orphanet:96177", source="MONDO:equivalentTo", source="Orphanet:96177/e"} xref: Orphanet:96177 {source="MONDO:equivalentTo"} xref: SCTID:763405000 {source="MONDO:equivalentTo"} xref: UMLS:CN035931 {source="MONDO:equivalentTo"} is_a: MONDO:0700022 ! chromosome 15 disorder is_a: MONDO:0700091 ! ring chromosome disorder property_value: exactMatch http://identifiers.org/mesh/C538035 property_value: exactMatch http://identifiers.org/snomedct/763405000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN035931 property_value: exactMatch Orphanet:96177 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1328/ring-chromosome-15 xsd:anyURI {source="GARD:0001328"} [Term] id: MONDO:0019909 name: ring chromosome 16 def: "Ring chromosome 16 is characterized bypostnatal growthdeficiency, intellectual disability, microcephaly, broad flat nasal bridge, down-turned mouth, low-set and dysmorphic (abnormally-shaped) ears and speech delay.To date, less than 10 cases have been reported in the medical literature." [https://rarediseases.info.nih.gov/diseases/10855/ring-chromosome-16] subset: gard_rare {source="GARD:0010855"} subset: ordo_malformation_syndrome {source="Orphanet:96178"} synonym: "chromosome 16 ring" RELATED [GARD:0010855] synonym: "R16" RELATED ABBREVIATION [GARD:0010855] synonym: "Ring 16" RELATED [GARD:0010855] synonym: "Ring chromosome 16 syndrome" RELATED [Orphanet:96178] synonym: "Ring chromosome type 16" EXACT [MONDORULE:2, Orphanet:96178] xref: Orphanet:96178 {source="MONDO:equivalentTo"} xref: SCTID:763406004 {source="MONDO:equivalentTo"} is_a: MONDO:0700023 ! chromosome 16 disorder is_a: MONDO:0700091 ! ring chromosome disorder property_value: exactMatch http://identifiers.org/snomedct/763406004 property_value: exactMatch Orphanet:96178 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10855/ring-chromosome-16 xsd:anyURI {source="GARD:0010855"} [Term] id: MONDO:0019910 name: maternal uniparental disomy of chromosome 2 def: "Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier." [Orphanet:96179] subset: ordo_malformation_syndrome {source="Orphanet:96179"} synonym: "maternal uniparental disomy of chromosome type 2" EXACT [MONDORULE:1, Orphanet:96179] synonym: "UPD(2)mat" EXACT [Orphanet:96179] xref: Orphanet:96179 {source="MONDO:equivalentTo"} xref: SCTID:766237006 {source="MONDO:equivalentTo"} is_a: MONDO:0700009 ! chromosome 2 disorder is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy property_value: exactMatch http://identifiers.org/snomedct/766237006 property_value: exactMatch Orphanet:96179 [Term] id: MONDO:0019911 name: maternal uniparental disomy of chromosome 4 def: "Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier." [Orphanet:96180] subset: ordo_malformation_syndrome {source="Orphanet:96180"} synonym: "maternal uniparental disomy of chromosome type 4" EXACT [MONDORULE:1, Orphanet:96180] synonym: "UPD(4)mat" EXACT [Orphanet:96180] xref: Orphanet:96180 {source="MONDO:equivalentTo"} xref: SCTID:766238001 {source="MONDO:equivalentTo"} is_a: MONDO:0700011 ! chromosome 4 disorder is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy property_value: exactMatch http://identifiers.org/snomedct/766238001 property_value: exactMatch Orphanet:96180 [Term] id: MONDO:0019912 name: maternal uniparental disomy of chromosome 6 def: "Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes." [Orphanet:96181] subset: ordo_malformation_syndrome {source="Orphanet:96181"} synonym: "maternal uniparental disomy of chromosome type 6" EXACT [MONDORULE:1, Orphanet:96181] synonym: "UPD(6)mat" EXACT [Orphanet:96181] xref: Orphanet:96181 {source="MONDO:equivalentTo"} xref: SCTID:766239009 {source="MONDO:equivalentTo"} is_a: MONDO:0700013 ! chromosome 6 disorder is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy property_value: exactMatch http://identifiers.org/snomedct/766239009 property_value: exactMatch Orphanet:96181 [Term] id: MONDO:0019913 name: silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 def: "Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders)." [Orphanet:96182] subset: ordo_etiological_subtype {source="Orphanet:96182"} synonym: "Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 7" EXACT [MONDORULE:1, Orphanet:96182] synonym: "UPD(7)mat" EXACT [Orphanet:96182] xref: Orphanet:96182 {source="MONDO:equivalentTo"} xref: UMLS:CN206841 {source="MONDO:equivalentTo"} is_a: MONDO:0008394 {source="Orphanet:96182"} ! Silver-Russell syndrome is_a: MONDO:0700014 ! chromosome 7 disorder is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206841 property_value: exactMatch Orphanet:96182 [Term] id: MONDO:0019914 name: maternal uniparental disomy of chromosome 9 def: "Maternal uniparental disomy of chromosome 9 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier." [Orphanet:96183] subset: ordo_malformation_syndrome {source="Orphanet:96183"} synonym: "maternal uniparental disomy of chromosome type 9" EXACT [MONDORULE:1, Orphanet:96183] synonym: "UPD(9)mat" EXACT [Orphanet:96183] xref: Orphanet:96183 {source="MONDO:equivalentTo"} xref: SCTID:766240006 {source="MONDO:equivalentTo"} is_a: MONDO:0700016 ! chromosome 9 disorder is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy property_value: exactMatch http://identifiers.org/snomedct/766240006 property_value: exactMatch Orphanet:96183 [Term] id: MONDO:0019915 name: maternal uniparental disomy of chromosome 14 def: "Maternal uniparental disomy of chromosome 14 is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum)." [Orphanet:96184] subset: ordo_etiological_subtype {source="Orphanet:96184"} synonym: "maternal uniparental disomy of chromosome type 14" EXACT [MONDORULE:2, Orphanet:96184] synonym: "UPD(14)mat" EXACT [Orphanet:96184] xref: Orphanet:96184 {source="MONDO:equivalentTo"} is_a: MONDO:0014541 {source="Orphanet:96184"} ! motor developmental delay due to 14q32.2 paternally expressed gene defect is_a: MONDO:0700021 ! chromosome 14 disorder is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy property_value: exactMatch Orphanet:96184 [Term] id: MONDO:0019916 name: maternal uniparental disomy of chromosome 16 subset: ordo_malformation_syndrome {source="Orphanet:96185"} synonym: "maternal uniparental disomy of chromosome type 16" EXACT [MONDORULE:2, Orphanet:96185] synonym: "UPD(16)mat" EXACT [Orphanet:96185] xref: Orphanet:96185 {source="MONDO:equivalentTo"} is_a: MONDO:0015246 {source="Orphanet:96185"} ! syndromic anorectal malformation is_a: MONDO:0700023 ! chromosome 16 disorder is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy property_value: exactMatch Orphanet:96185 [Term] id: MONDO:0019917 name: maternal uniparental disomy of chromosome 20 def: "Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy." [Orphanet:96186] subset: ordo_malformation_syndrome {source="Orphanet:96186"} synonym: "maternal uniparental disomy of chromosome type 20" EXACT [MONDORULE:2, Orphanet:96186] synonym: "maternal UPD(20)" EXACT [Orphanet:96186] synonym: "MBCS" RELATED ABBREVIATION [OMIM:617352] synonym: "MULCHANDANI-BHOJ-CONLIN syndrome" RELATED [OMIM:617352] synonym: "uniparental disomy, maternal, chromosome 20" RELATED [OMIM:617352] synonym: "UPD(20)mat" EXACT [Orphanet:96186] xref: DOID:0111714 {source="MONDO:equivalentTo"} xref: OMIM:617352 {source="MONDO:equivalentTo", source="Orphanet:96186"} xref: Orphanet:96186 {source="MONDO:equivalentTo", source="OMIM:617352"} xref: SCTID:715735007 {source="MONDO:equivalentTo"} is_a: MONDO:0700025 ! chromosome 20 disorder is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy property_value: exactMatch DOID:0111714 property_value: exactMatch http://identifiers.org/snomedct/715735007 property_value: exactMatch https://omim.org/entry/617352 property_value: exactMatch Orphanet:96186 [Term] id: MONDO:0019918 name: maternal uniparental disomy of chromosome 21 subset: ordo_malformation_syndrome {source="Orphanet:96187"} synonym: "maternal uniparental disomy of chromosome type 21" EXACT [MONDORULE:2, Orphanet:96187] synonym: "UPD(21)mat" EXACT [Orphanet:96187] xref: Orphanet:96187 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy is_a: MONDO:0700124 ! chromosome 21 disorder property_value: exactMatch Orphanet:96187 [Term] id: MONDO:0019919 name: maternal uniparental disomy of chromosome 22 subset: ordo_malformation_syndrome {source="Orphanet:96188"} synonym: "maternal uniparental disomy of chromosome type 22" EXACT [MONDORULE:2, Orphanet:96188] synonym: "UPD(22)mat" EXACT [Orphanet:96188] xref: Orphanet:96188 {source="MONDO:equivalentTo"} is_a: MONDO:0700026 ! chromosome 22 disorder is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy property_value: exactMatch Orphanet:96188 [Term] id: MONDO:0019920 name: paternal uniparental disomy of chromosome 5 def: "Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier." [Orphanet:96190] subset: ordo_malformation_syndrome {source="Orphanet:96190"} synonym: "paternal uniparental disomy of chromosome type 5" EXACT [MONDORULE:1, Orphanet:96190] synonym: "UPD(5)pat" EXACT [Orphanet:96190] xref: Orphanet:96190 {source="MONDO:equivalentTo"} is_a: MONDO:0700012 ! chromosome 5 disorder is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy property_value: exactMatch Orphanet:96190 [Term] id: MONDO:0019921 name: paternal uniparental disomy of chromosome 6 def: "Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia." [Orphanet:96191] subset: ordo_malformation_syndrome {source="Orphanet:96191"} synonym: "paternal uniparental disomy of chromosome type 6" EXACT [MONDORULE:1, Orphanet:96191] synonym: "UPD(6)pat" EXACT [Orphanet:96191] xref: Orphanet:96191 {source="MONDO:equivalentTo"} is_a: MONDO:0700013 ! chromosome 6 disorder is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy property_value: exactMatch Orphanet:96191 [Term] id: MONDO:0019922 name: paternal uniparental disomy of chromosome 7 def: "Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss)." [Orphanet:96192] subset: ordo_malformation_syndrome {source="Orphanet:96192"} synonym: "paternal uniparental disomy of chromosome type 7" EXACT [MONDORULE:1, Orphanet:96192] synonym: "UPD(7)pat" EXACT [Orphanet:96192] xref: Orphanet:96192 {source="MONDO:equivalentTo"} xref: SCTID:766721001 {source="MONDO:equivalentTo"} is_a: MONDO:0700014 ! chromosome 7 disorder is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy property_value: exactMatch http://identifiers.org/snomedct/766721001 property_value: exactMatch Orphanet:96192 [Term] id: MONDO:0019923 name: Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 subset: ordo_etiological_subtype {source="Orphanet:96193"} synonym: "Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome type 11" EXACT [MONDORULE:2, Orphanet:96193] synonym: "Mosaic paternal uniparental disomy of chromosome 11" EXACT [Orphanet:96193] synonym: "UPD(11)pat" EXACT [Orphanet:96193] xref: Orphanet:96193 {source="MONDO:equivalentTo"} xref: UMLS:CN206842 {source="MONDO:equivalentTo"} is_a: MONDO:0007534 {source="Orphanet:96193"} ! Beckwith-Wiedemann syndrome is_a: MONDO:0700018 ! chromosome 11 disorder is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206842 property_value: exactMatch Orphanet:96193 [Term] id: MONDO:0019924 name: paternal uniparental disomy of chromosome 20 def: "Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b testing and have UPD involving variable segments of the long arm of chromosome 20." [Orphanet:96194] subset: ordo_malformation_syndrome {source="Orphanet:96194"} synonym: "paternal uniparental disomy of chromosome type 20" EXACT [MONDORULE:2, Orphanet:96194] synonym: "paternal UPD(20)" EXACT [Orphanet:96194] synonym: "paternal UPD20" EXACT [Orphanet:96194] synonym: "UPD(20)pat" EXACT [Orphanet:96194] xref: Orphanet:96194 {source="MONDO:equivalentTo"} xref: SCTID:715736008 {source="MONDO:equivalentTo"} xref: UMLS:C4275028 {source="MONDO:equivalentTo"} is_a: MONDO:0700025 ! chromosome 20 disorder is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy property_value: exactMatch http://identifiers.org/snomedct/715736008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275028 property_value: exactMatch Orphanet:96194 [Term] id: MONDO:0019925 name: paternal uniparental disomy of chromosome 21 def: "Paternal uniparental disomy of chromosome 21 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier." [Orphanet:96195] subset: ordo_malformation_syndrome {source="Orphanet:96195"} synonym: "paternal uniparental disomy of chromosome type 21" EXACT [MONDORULE:2, Orphanet:96195] synonym: "UPD(21)pat" EXACT [Orphanet:96195] xref: Orphanet:96195 {source="MONDO:equivalentTo"} xref: SCTID:766720000 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy is_a: MONDO:0700124 ! chromosome 21 disorder property_value: exactMatch http://identifiers.org/snomedct/766720000 property_value: exactMatch Orphanet:96195 [Term] id: MONDO:0019926 name: X small rings def: "X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures." [Orphanet:96201] subset: ordo_malformation_syndrome {source="Orphanet:96201"} xref: Orphanet:96201 {source="MONDO:equivalentTo"} xref: SCTID:766760004 {source="MONDO:equivalentTo"} is_a: MONDO:0019852 {source="Orphanet:96201"} ! inherited primary ovarian failure is_a: MONDO:0700027 ! chromosome X disorder is_a: MONDO:0700091 ! ring chromosome disorder property_value: exactMatch http://identifiers.org/snomedct/766760004 property_value: exactMatch Orphanet:96201 [Term] id: MONDO:0019927 name: growth hormone-producing pituitary gland neoplasm def: "An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces growth hormone." [NCIT:C7911] synonym: "growth hormone producing neoplasm of pituitary" EXACT [NCIT:C7911] synonym: "growth hormone producing neoplasm of pituitary gland" EXACT [NCIT:C7911] synonym: "growth hormone producing neoplasm of the pituitary" EXACT [NCIT:C7911] synonym: "growth hormone producing neoplasm of the pituitary gland" EXACT [NCIT:C7911] synonym: "growth hormone producing pituitary gland neoplasm" EXACT [NCIT:C7911] synonym: "growth hormone producing pituitary gland tumor" EXACT [NCIT:C7911] synonym: "growth hormone producing pituitary gland tumour" EXACT OMO:0003005 [] synonym: "growth hormone producing pituitary neoplasm" EXACT [NCIT:C7911] synonym: "growth hormone producing pituitary tumor" EXACT [NCIT:C7911] synonym: "growth hormone producing pituitary tumour" EXACT OMO:0003005 [] synonym: "growth hormone producing tumor" EXACT [NCIT:C7911] synonym: "growth hormone producing tumor of pituitary" EXACT [NCIT:C7911] synonym: "growth hormone producing tumor of pituitary gland" EXACT [NCIT:C7911] synonym: "growth hormone producing tumor of the pituitary" EXACT [NCIT:C7911] synonym: "growth hormone producing tumor of the pituitary gland" EXACT [NCIT:C7911] synonym: "growth hormone producing tumour" EXACT OMO:0003005 [] synonym: "growth hormone producing tumour of pituitary" EXACT OMO:0003005 [] synonym: "growth hormone producing tumour of pituitary gland" EXACT OMO:0003005 [] synonym: "growth hormone producing tumour of the pituitary" EXACT OMO:0003005 [] synonym: "growth hormone producing tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "growth hormone secreting neoplasm of pituitary" EXACT [NCIT:C7911] synonym: "growth hormone secreting neoplasm of pituitary gland" EXACT [NCIT:C7911] synonym: "growth hormone secreting neoplasm of the pituitary" EXACT [NCIT:C7911] synonym: "growth hormone secreting neoplasm of the pituitary gland" EXACT [NCIT:C7911] synonym: "growth hormone secreting pituitary gland neoplasm" EXACT [NCIT:C7911] synonym: "growth hormone secreting pituitary gland tumor" EXACT [NCIT:C7911] synonym: "growth hormone secreting pituitary gland tumour" EXACT OMO:0003005 [] synonym: "growth hormone secreting pituitary neoplasm" EXACT [NCIT:C7911] synonym: "growth hormone secreting pituitary tumor" EXACT [NCIT:C7911] synonym: "growth hormone secreting pituitary tumour" EXACT OMO:0003005 [] synonym: "growth hormone secreting tumor of pituitary" EXACT [NCIT:C7911] synonym: "growth hormone secreting tumor of pituitary gland" EXACT [NCIT:C7911] synonym: "growth hormone secreting tumor of the pituitary" EXACT [NCIT:C7911] synonym: "growth hormone secreting tumor of the pituitary gland" EXACT [NCIT:C7911] synonym: "growth hormone secreting tumour of pituitary" EXACT OMO:0003005 [] synonym: "growth hormone secreting tumour of pituitary gland" EXACT OMO:0003005 [] synonym: "growth hormone secreting tumour of the pituitary" EXACT OMO:0003005 [] synonym: "growth hormone secreting tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "growth hormone-producing pituitary gland neoplasm" EXACT [NCIT:C7911] synonym: "Growth hormone-producing pituitary gland tumor" EXACT [NCIT:C7911] synonym: "Growth hormone-producing pituitary gland tumour" EXACT OMO:0003005 [] synonym: "pituitary gland somatotropinoma" EXACT [NCIT:C7911] synonym: "pituitary somatotropinoma" EXACT [NCIT:C7911] synonym: "somatotroph neoplasm" EXACT [NCIT:C7911] synonym: "somatotroph tumor" EXACT [NCIT:C7911] synonym: "somatotroph tumour" EXACT OMO:0003005 [] synonym: "somatotropinoma" EXACT [NCIT:C7911, Orphanet:96256] synonym: "somatotropinoma of pituitary" EXACT [NCIT:C7911] synonym: "somatotropinoma of pituitary gland" EXACT [NCIT:C7911] synonym: "somatotropinoma of the pituitary" EXACT [NCIT:C7911] synonym: "somatotropinoma of the pituitary gland" EXACT [NCIT:C7911] xref: NCIT:C7911 {source="MONDO:equivalentObsolete"} xref: UMLS:C0278864 {source="MONDO:equivalentTo", source="NCIT:C7911"} is_a: EFO:0006858 ! epithelial neoplasm is_a: MONDO:0017611 ! pituitary tumor property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278864 [Term] id: MONDO:0019928 name: 48,XXXY syndrome def: "The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." [Orphanet:96263] subset: gard_rare {source="GARD:0005676"} subset: ordo_malformation_syndrome {source="Orphanet:96263"} synonym: "48, XXXY syndrome" EXACT [NCIT:C89799] synonym: "XXXY syndrome" RELATED [GARD:0005676] xref: ICD9:758.81 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10048228 {source="Orphanet:96263/e", source="Orphanet:96263"} xref: NCIT:C89799 {source="MONDO:equivalentTo"} xref: Orphanet:96263 {source="MONDO:equivalentTo"} xref: SCTID:78317008 {source="MONDO:equivalentTo"} xref: UMLS:C0265498 {source="Orphanet:96263/e", source="MONDO:equivalentTo", source="NCIT:C89799", source="Orphanet:96263"} is_a: MONDO:0015620 {source="Orphanet:96263"} ! syndromic urogenital tract malformation is_a: MONDO:0017975 {source="Orphanet:96263"} ! sex chromosome disorder of sex development is_a: MONDO:0030502 {source="https://orcid.org/0000-0002-4142-7153"} ! tetrasomy is_a: MONDO:0700027 ! chromosome X disorder property_value: closeMatch http://identifiers.org/meddra/10048228 property_value: exactMatch http://identifiers.org/snomedct/78317008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265498 property_value: exactMatch NCIT:C89799 property_value: exactMatch Orphanet:96263 property_value: excluded_subClassOf MONDO:0000508 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5676/48xxxy-syndrome xsd:anyURI {source="GARD:0005676"} [Term] id: MONDO:0019929 name: 49,XXXXY syndrome def: "The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." [Orphanet:96264] subset: gard_rare {source="GARD:0005679"} subset: ordo_malformation_syndrome {source="Orphanet:96264"} synonym: "49,XXXXY" RELATED [GARD:0005679] synonym: "XXXXY syndrome" RELATED [GARD:0005679] xref: ICD9:758.81 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D007713 {source="MONDO:relatedTo"} xref: NCIT:C185635 {source="MONDO:equivalentTo"} xref: Orphanet:96264 {source="MONDO:equivalentTo"} xref: SCTID:38847009 {source="MONDO:equivalentTo"} xref: UMLS:C0265499 {source="MONDO:equivalentTo", source="Orphanet:96264"} is_a: MONDO:0015620 {source="Orphanet:96264"} ! syndromic urogenital tract malformation is_a: MONDO:0017975 {source="Orphanet:96264"} ! sex chromosome disorder of sex development is_a: MONDO:0700027 ! chromosome X disorder is_a: MONDO:0700085 {source="https://orcid.org/0000-0002-4142-7153"} ! pentasomy property_value: exactMatch http://identifiers.org/snomedct/38847009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265499 property_value: exactMatch NCIT:C185635 property_value: exactMatch Orphanet:96264 property_value: excluded_subClassOf MONDO:0000508 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5679/49xxxxy-syndrome xsd:anyURI {source="GARD:0005679"} [Term] id: MONDO:0019930 name: Leydig cell hypoplasia due to complete LH resistance subset: ordo_clinical_subtype {source="Orphanet:96265"} synonym: "46,XY disorder of sex development due to complete LH receptor inactivation" EXACT [Orphanet:96265] synonym: "46,XY disorder of sex development due to complete LH resistance" EXACT [Orphanet:96265] synonym: "46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation" EXACT [Orphanet:96265] synonym: "46,XY disorder of sex development due to complete luteinizing hormone resistance" EXACT [Orphanet:96265] synonym: "46,XY DSD due to complete LH receptor inactivation" EXACT [Orphanet:96265] synonym: "46,XY DSD due to complete LH resistance" EXACT [Orphanet:96265] synonym: "46,XY DSD due to complete luteinizing hormone receptor inactivation" EXACT [Orphanet:96265] synonym: "46,XY DSD due to complete luteinizing hormone resistance" EXACT [Orphanet:96265] synonym: "Leydig cell hypoplasia due to complete LH receptor inactivation" EXACT [Orphanet:96265] synonym: "Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation" EXACT [Orphanet:96265] synonym: "Leydig cell hypoplasia due to complete luteinizing hormone resistance" EXACT [Orphanet:96265] xref: DOID:0112260 {source="MONDO:equivalentTo"} xref: Orphanet:96265 {source="MONDO:equivalentTo"} xref: UMLS:CN206847 {source="MONDO:equivalentTo"} is_a: MONDO:0009384 ! Leydig cell hypoplasia, type 1 property_value: exactMatch DOID:0112260 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206847 property_value: exactMatch Orphanet:96265 [Term] id: MONDO:0019931 name: Leydig cell hypoplasia due to partial LH resistance subset: ordo_clinical_subtype {source="Orphanet:96266"} synonym: "46,XY disorder of sex developement due to partial LH receptor inactivation" EXACT [Orphanet:96266] synonym: "46,XY disorder of sex developement due to partial LH resistance" EXACT [Orphanet:96266] synonym: "46,XY disorder of sex developement due to partial luteinizing hormone resistance" EXACT [Orphanet:96266] synonym: "46,XY DSD due to partial LH receptor inactivation" EXACT [Orphanet:96266] synonym: "46,XY DSD due to partial LH resistance" EXACT [Orphanet:96266] synonym: "46,XY DSD due to partial luteinizing hormone resistance" EXACT [Orphanet:96266] synonym: "Leydig cell hypoplasia due to partial LH receptor inactivation" EXACT [Orphanet:96266] synonym: "Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation" EXACT [Orphanet:96266] synonym: "Leydig cell hypoplasia due to partial luteinizing hormone resistance" EXACT [Orphanet:96266] xref: DOID:0112261 {source="MONDO:equivalentTo"} xref: Orphanet:96266 {source="MONDO:equivalentTo"} xref: UMLS:CN206848 {source="MONDO:equivalentTo"} is_a: MONDO:0009384 ! Leydig cell hypoplasia, type 1 property_value: exactMatch DOID:0112261 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206848 property_value: exactMatch Orphanet:96266 [Term] id: MONDO:0019934 name: polyploidy def: "Chromosomal disorder in which the chromosomal constitution of a cell containing multiples of the normal number of chromosomes; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc." [MESH:D011123] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:96321"} xref: MESH:D011123 {source="Orphanet:96321", source="MONDO:equivalentTo", source="Orphanet:96321/e"} xref: Orphanet:96321 {source="MONDO:equivalentTo"} xref: SCTID:72991005 {source="MONDO:equivalentTo"} is_a: MONDO:0019040 {source="Orphanet:96321"} ! chromosomal disorder property_value: exactMatch http://identifiers.org/mesh/D011123 property_value: exactMatch http://identifiers.org/snomedct/72991005 property_value: exactMatch Orphanet:96321 [Term] id: MONDO:0019935 name: isochromosome Y subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:96325"} synonym: "Isochromosome type Y" EXACT [MONDORULE:1, Orphanet:96325] xref: Orphanet:96325 {source="MONDO:equivalentTo"} is_a: MONDO:0700028 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome Y disorder property_value: exactMatch Orphanet:96325 [Term] id: MONDO:0019936 name: obsolete rare otorhinolaryngological malformation subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:96333"} xref: Orphanet:96333 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227722 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227722 property_value: exactMatch Orphanet:96333 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true [Term] id: MONDO:0019938 name: anorectal malformation subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:96346"} xref: ICD9:751.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537771 {source="Orphanet:96346", source="MONDO:equivalentTo", source="Orphanet:96346/e"} xref: Orphanet:96346 {source="MONDO:equivalentTo"} xref: SCTID:33225004 {source="MONDO:equivalentTo"} is_a: MONDO:0020019 {source="Orphanet:96346"} ! digestive tract malformation property_value: exactMatch http://identifiers.org/mesh/C537771 property_value: exactMatch http://identifiers.org/snomedct/33225004 property_value: exactMatch Orphanet:96346 [Term] id: MONDO:0019940 name: hypertrichosis-acromegaloid facial appearance syndrome def: "Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, CantC9 type." [Orphanet:966] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:966"} synonym: "acromegaloid facial appearance syndrome and hypertrichosis" RELATED [GARD:0000502] synonym: "acromegaloid hypertrichosis syndrome" RELATED [GARD:0000502] synonym: "haff" EXACT [Orphanet:966] synonym: "hypertrichosis-acromegaloid facial features syndrome" EXACT [Orphanet:966] synonym: "hypertrichosis-coarse face syndrome" EXACT [Orphanet:966] xref: Orphanet:966 {source="MONDO:equivalentObsolete"} xref: SCTID:721837000 {source="MONDO:equivalentTo"} xref: UMLS:CN226272 {source="MONDO:equivalentTo"} is_a: MONDO:0015161 {source="Orphanet:966"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0019280 {source="Orphanet:966"} ! hypertrichosis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: exactMatch http://identifiers.org/snomedct/721837000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226272 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/502/acromegaloid-hypertrichosis-syndrome xsd:anyURI {source="GARD:0000502"} [Term] id: MONDO:0019941 name: hereditary sensory and autonomic neuropathy type 2 def: "Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia." [Orphanet:970] subset: ordo_disease {source="Orphanet:970"} synonym: "autosomal recessive sensory radicular neuropathy" EXACT [Orphanet:970] synonym: "Giaccai type acroosteolysis" RELATED [GARD:0003976] synonym: "hereditary sensory and autonomic neuropathy type II" EXACT [DOID:0070161, Orphanet:970] synonym: "hereditary sensory neuropathy type 2" RELATED [GARD:0003976] synonym: "hereditary sensory radicular neuropathy, recessive form" RELATED [GARD:0003976] synonym: "HSAN2" EXACT ABBREVIATION [DOID:0070161, Orphanet:970] synonym: "neurogenic acroosteolysis" EXACT [Orphanet:970] xref: DOID:0070161 {source="MONDO:equivalentTo"} xref: Orphanet:970 {source="MONDO:equivalentTo", source="DOID:0070161"} xref: PMID:21089229 {source="DOID:0070161"} xref: SCTID:398148000 {source="MONDO:equivalentTo", source="DOID:0070161"} is_a: MONDO:0015364 {source="DOID:0070161", source="Orphanet:970/inferred"} ! hereditary sensory and autonomic neuropathy property_value: exactMatch DOID:0070161 property_value: exactMatch http://identifiers.org/snomedct/398148000 property_value: exactMatch Orphanet:970 [Term] id: MONDO:0019942 name: distal arthrogryposis def: "A muscle tissue disease characterized by congenital joint contractures of hand and feet." [DOID:0050646, http://en.wikipedia.org/wiki/Arthrogryposis] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:97120"} synonym: "arthrogryposis multiplex congenita distal" RELATED [GARD:0000786] xref: DOID:0050646 {source="MONDO:equivalentTo"} xref: OMIMPS:108120 {source="MONDO:equivalentTo"} xref: Orphanet:97120 {source="MONDO:equivalentTo", source="GARD:0000786", source="DOID:0050646"} xref: SCTID:24269006 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0003939 {source="DOID:0050646"} ! muscle tissue disorder is_a: MONDO:0015225 {source="Orphanet:97120"} ! arthrogryposis syndrome property_value: exactMatch DOID:0050646 property_value: exactMatch http://identifiers.org/snomedct/24269006 property_value: exactMatch https://omim.org/phenotypicSeries/PS108120 property_value: exactMatch Orphanet:97120 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/786/distal-arthrogryposis xsd:anyURI {source="GARD:0000786"} [Term] id: MONDO:0019943 name: hereditary continuous muscle fiber activity def: "Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia." [Orphanet:972] subset: gard_rare subset: ordo_disease {source="Orphanet:972"} synonym: "continuous muscle fiber activity hereditary" EXACT [MONDO:0022857] synonym: "continuous muscle fibre activity hereditary" EXACT OMO:0003005 [] xref: Orphanet:972 {source="MONDO:equivalentTo"} xref: UMLS:C1834559 {source="Orphanet:972", source="MONDO:equivalentTo", source="GARD:0001512"} is_a: EFO:0004145 ! myopathy is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834559 property_value: exactMatch Orphanet:972 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1512/continuous-muscle-fiber-activity-hereditary xsd:anyURI {source="GARD:0001512"} [Term] id: MONDO:0019946 name: ligneous conjunctivitis def: "Ligneous conjunctivitis (LC) is a rare form of chronic conjunctivitis characterized by the recurrent formation of pseudomembranous lesions most commonly on the palpebral surfaces. It is most frequently reported as a clinical manifestation of severe homozygous or compound-heterozygous hypoplasminogenemia." [Orphanet:97231] subset: ordo_disease {source="Orphanet:97231"} synonym: "conjunctivitis lignosa" EXACT [Orphanet:97231] xref: ICD9:372.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10071570 {source="Orphanet:97231/e", source="Orphanet:97231"} xref: Orphanet:97231 {source="MONDO:equivalentObsolete"} xref: SCTID:403435005 {source="MONDO:equivalentTo"} xref: UMLS:C1274789 {source="Orphanet:97231/e", source="MONDO:equivalentTo", source="Orphanet:97231"} is_a: MONDO:0002314 {source="MONDO:cjm"} ! chronic conjunctivitis relationship: has_characteristic MONDO:0021136 {source="MONDO:0020198"} ! rare property_value: closeMatch http://identifiers.org/meddra/10071570 property_value: exactMatch http://identifiers.org/snomedct/403435005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1274789 [Term] id: MONDO:0019947 name: rippling muscle disease 2 def: "An autosomal dominant condition caused by mutation(s) in the CAV3 gene, encoding caveolin-3. It is characterized by mechanically triggered contractions of skeletal muscles. Limb-girdle muscular dystrophy type 1C is an allelic disorder with an overlapping phenotype." [NCIT:C148325] subset: ordo_disease {source="Orphanet:97238"} synonym: "autosomal dominant limb-girdle muscular dystrophy caused by mutation in CAV3" EXACT [MONDO:design_pattern] synonym: "CAV3 autosomal dominant limb-girdle muscular dystrophy" EXACT DEPRECATED [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CAV3 rippling muscle disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "LGMD1C" EXACT DEPRECATED [DOID:0110302, MONDO:Lexical, OMIM:607801, Orphanet:265] synonym: "limb-girdle muscular dystrophy due to caveolin-3 deficiency" EXACT DEPRECATED [DOID:0110302, Orphanet:265] synonym: "limb-girdle muscular dystrophy type 1C" RELATED DEPRECATED [GARD:0012527] synonym: "muscular dystrophy limb-girdle type IC" EXACT DEPRECATED [DOID:0110302] synonym: "muscular dystrophy, limb-girdle, type 1C" RELATED DEPRECATED [MONDO:Lexical, OMIM:607801] synonym: "muscular dystrophy, limb-girdle, type IC" RELATED DEPRECATED [GARD:0012527] synonym: "rippling muscle disease 2" EXACT [NCIT:C148325] synonym: "rippling muscle disease caused by mutation in CAV3" EXACT [MONDO:design_pattern] synonym: "rippling muscle disease type 2" EXACT [DOID:0060255, MONDORULE:1] synonym: "RMD2" EXACT ABBREVIATION [NCIT:C148325, OMIM:606072] xref: DOID:0060255 {source="MONDO:equivalentTo"} xref: NCIT:C148325 {source="MONDO:equivalentTo"} xref: OMIM:606072 {source="DOID:0060255", source="MONDO:equivalentTo"} xref: Orphanet:97238 {source="DOID:0060255", source="MONDO:equivalentTo", source="OMIM:606072"} xref: UMLS:C1832560 {source="MONDO:equivalentTo", source="OMIM:606072"} is_a: MONDO:0020704 ! inherited rippling muscle disease property_value: exactMatch DOID:0060255 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832560 property_value: exactMatch https://omim.org/entry/606072 property_value: exactMatch NCIT:C148325 property_value: exactMatch Orphanet:97238 [Term] id: MONDO:0019948 name: reducing body myopathy def: "Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibers." [Orphanet:97239] subset: gard_rare {source="GARD:0012162"} subset: ordo_disease {source="Orphanet:97239"} xref: DOID:0080090 {source="MONDO:equivalentTo"} xref: ICD9:359.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:97239 {source="MONDO:equivalentTo"} xref: SCTID:42779002 {source="MONDO:equivalentTo"} is_a: MONDO:0019952 {source="Orphanet:97239"} ! congenital myopathy property_value: exactMatch DOID:0080090 property_value: exactMatch http://identifiers.org/snomedct/42779002 property_value: exactMatch Orphanet:97239 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12162/reducing-body-myopathy xsd:anyURI {source="GARD:0012162"} [Term] id: MONDO:0019949 name: zebra body myopathy subset: ordo_disease {source="Orphanet:97240"} xref: ICD9:359.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:97240 {source="MONDO:equivalentTo"} xref: SCTID:34513009 {source="MONDO:equivalentTo"} xref: UMLS:C0270969 {source="Orphanet:97240/e", source="MONDO:equivalentTo", source="Orphanet:97240"} is_a: MONDO:0100084 {source="https://github.com/monarch-initiative/mondo/issues/900"} ! alpha-actinopathy property_value: exactMatch http://identifiers.org/snomedct/34513009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270969 property_value: exactMatch Orphanet:97240 [Term] id: MONDO:0019950 name: congenital muscular dystrophy def: "A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted." [DOID:0050557] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:97242"} synonym: "CMD" EXACT ABBREVIATION [Orphanet:97242] synonym: "congenital MD" RELATED [GARD:0009138] synonym: "MDC" EXACT ABBREVIATION [Orphanet:97242] xref: DOID:0050557 {source="MONDO:equivalentTo"} xref: EFO:0006819 {source="MONDO:equivalentTo"} xref: ICD9:359.0 {source="DOID:0050557"} xref: Orphanet:97242 {source="DOID:0050557", source="MONDO:equivalentTo"} xref: SCTID:240059009 {source="MONDO:equivalentTo"} xref: UMLS:C0699743 {source="Orphanet:97242/e", source="MONDO:equivalentTo", source="Orphanet:97242"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0020121 {source="DOID:0050557", source="Orphanet:97242"} ! muscular dystrophy property_value: exactMatch DOID:0050557 property_value: exactMatch http://identifiers.org/snomedct/240059009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0699743 property_value: exactMatch Orphanet:97242 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5658 xsd:anyURI [Term] id: MONDO:0019951 name: rigid spine syndrome def: "Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency." [Orphanet:97244] subset: ordo_disease {source="Orphanet:97244"} synonym: "desmin-related myopathies with Mallory bodies" RELATED [GARD:0004723] synonym: "muscular dystrophy, congenital, merosin positive with early spine rigidity" RELATED [GARD:0004723] synonym: "rigid spine congenital muscular dystrophy" EXACT [Orphanet:97244] synonym: "rigid spine muscular dystrophy-1" RELATED [GARD:0004723] xref: MESH:C535683 {source="Orphanet:97244", source="MONDO:equivalentTo", source="Orphanet:97244/e"} xref: Orphanet:97244 {source="MONDO:equivalentTo"} is_a: MONDO:0016187 {source="Orphanet:97244"} ! qualitative or quantitative defects of desmin is_a: MONDO:0016197 {source="Orphanet:97244"} ! qualitative or quantitative defects of selenoprotein N1 is_a: MONDO:0019950 {source="Orphanet:97244"} ! congenital muscular dystrophy property_value: exactMatch http://identifiers.org/mesh/C535683 property_value: exactMatch Orphanet:97244 [Term] id: MONDO:0019952 name: congenital myopathy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:97245"} synonym: "Batten Turner congenital myopathy" RELATED [GARD:0005898] synonym: "congenital myopathy" EXACT [] synonym: "myopathy congenital" RELATED [GARD:0005898] xref: DOID:0080100 {source="MONDO:equivalentObsolete"} xref: DOID:0081337 {source="MONDO:equivalentTo"} xref: MedDRA:10062547 {source="Orphanet:97245", source="Orphanet:97245/e"} xref: OMIMPS:117000 {source="MONDO:equivalentTo"} xref: Orphanet:97245 {source="MONDO:equivalentTo"} is_a: EFO:0004145 {source="DOID:0080100", source="MONDO:indirect"} ! myopathy is_a: MONDO:0700223 ! hereditary skeletal muscle disorder relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: closeMatch http://identifiers.org/meddra/10062547 property_value: exactMatch DOID:0081337 property_value: exactMatch https://omim.org/phenotypicSeries/PS117000 property_value: exactMatch Orphanet:97245 property_value: excluded_subClassOf MONDO:0100167 {source="https://orcid.org/0000-0002-0736-9199"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5658 xsd:anyURI [Term] id: MONDO:0019956 name: encephalitis def: "An acute inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes." [NCIT:C26760] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:97275"} synonym: "brain inflammation" BROAD [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:9588 {source="MONDO:equivalentTo"} xref: ICD10CM:A85 {source="MONDO:equivalentTo"} xref: ICD9:323.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:323.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:323.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10014581 {source="Orphanet:97275/e", source="Orphanet:97275"} xref: MESH:D004660 {source="Orphanet:97275/e", source="MONDO:equivalentTo", source="DOID:9588", source="Orphanet:97275"} xref: NCIT:C26760 {source="MONDO:equivalentTo", source="DOID:9588"} xref: Orphanet:97275 {source="MONDO:equivalentTo"} xref: SCTID:45170000 {source="MONDO:equivalentTo", source="DOID:9588"} xref: UMLS:C0014038 {source="NCIT:C26760", source="Orphanet:97275/e", source="MONDO:equivalentTo", source="DOID:9588", source="Orphanet:97275"} is_a: MONDO:0015144 {source="MONDO:Redundant", source="Orphanet:97275"} ! brain inflammatory disease is_a: MONDO:0020683 ! acute disease property_value: closeMatch http://identifiers.org/meddra/10014581 property_value: exactMatch DOID:9588 property_value: exactMatch http://identifiers.org/mesh/D004660 property_value: exactMatch http://identifiers.org/snomedct/45170000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014038 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A85 property_value: exactMatch NCIT:C26760 property_value: exactMatch Orphanet:97275 property_value: excluded_subClassOf MONDO:0005108 {source="DOID:9588"} [Term] id: MONDO:0019962 name: thyroid lymphoma def: "A lymphoma primarily involving the thyroid gland." [NCIT:C5265] subset: ordo_disease {source="Orphanet:97285"} synonym: "lymphoma of the thyroid" EXACT [NCIT:C5265] synonym: "lymphoma of the thyroid gland" EXACT [NCIT:C5265] synonym: "lymphoma of thyroid" EXACT [NCIT:C5265] synonym: "lymphoma of thyroid gland" EXACT [NCIT:C5265] synonym: "primary thyroid gland lymphoma" EXACT [NCIT:C5265] synonym: "thyroid gland lymphoma" EXACT [MONDO:patterns/location, NCIT:C5265] synonym: "thyroid lymphoma" EXACT [NCIT:C5265] xref: DOID:10011 {source="MONDO:equivalentTo"} xref: NCIT:C5265 {source="MONDO:equivalentTo", source="DOID:10011"} xref: Orphanet:97285 {source="MONDO:equivalentTo"} xref: UMLS:C1336753 {source="NCIT:C5265", source="MONDO:equivalentTo", source="DOID:10011"} is_a: MONDO:0002108 {source="DOID:10011", source="NCIT:C5265"} ! thyroid cancer is_a: MONDO:0017207 {source="Orphanet:97285"} ! primary organ-specific lymphoma property_value: exactMatch DOID:10011 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336753 property_value: exactMatch NCIT:C5265 property_value: exactMatch Orphanet:97285 [Term] id: MONDO:0019964 name: thymic neuroendocrine tumor def: "Thymic endocrine tumor is a rare, malignant, primary thymic neoplasm originating from neuroendocrine cells, presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid sydrome, respectively." [Orphanet:97289] subset: ordo_disease {source="Orphanet:97289"} synonym: "neuroendocrine neoplasm of thymus" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm] synonym: "thymus NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "thymus neuroendocrine neoplasm" EXACT [MONDO:patterns/location] synonym: "thymus neuroendocrine tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "thymus neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "thymus neuroendocrine tumour" EXACT OMO:0003005 [] xref: ONCOTREE:TNET {source="MONDO:equivalentTo"} xref: Orphanet:97289 {source="MONDO:equivalentTo"} xref: UMLS:CN206887 {source="MONDO:equivalentTo"} is_a: EFO:0002626 {source="MONDO:Redundant", source="ONCOTREE:TNET", source="Orphanet:97289"} ! thymus neoplasm is_a: EFO:1001901 {source="MONDO:Redundant", source="Orphanet:97289", source="Orphanet:97289/inferred"} ! neuroendocrine neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206887 property_value: exactMatch Orphanet:97289 [Term] id: MONDO:0019978 name: Robinow syndrome def: "Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia." [Orphanet:97360] subset: ordo_malformation_syndrome {source="Orphanet:97360"} synonym: "acral dysostosis with facial and genital abnormalities" EXACT [DOID:0060254, Orphanet:97360] synonym: "costovertebral segmentation defect with mesomelia (formerly)" RELATED [GARD:0000312] synonym: "Covesdem syndrome (formerly)" RELATED [GARD:0000312] synonym: "fetal face syndrome" EXACT [DOID:0060254, Orphanet:97360] synonym: "foetal face syndrome" EXACT OMO:0003005 [] synonym: "mesomelic dwarfism-small genitalia syndrome" EXACT [Orphanet:97360] synonym: "Robinow dwarfism" EXACT [DOID:0060254, Orphanet:97360] synonym: "Robinow-Silverman-Smith syndrome" EXACT [Orphanet:97360] xref: DOID:0060254 {source="MONDO:equivalentTo"} xref: NCIT:C85048 {source="DOID:0060254", source="MONDO:equivalentTo"} xref: OMIMPS:268310 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:97360 {source="DOID:0060254", source="MONDO:equivalentTo"} xref: UMLS:C0265205 {source="Orphanet:97360/e", source="DOID:0060254", source="MONDO:equivalentTo", source="Orphanet:97360", source="NCIT:C85048"} xref: UMLS:CN776872 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="DOID:0060254", source="NCIT:C85048"} ! syndromic disease is_a: MONDO:0015160 {source="Orphanet:97360"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0019697 {source="Orphanet:97360"} ! mesomelic and rhizo-mesomelic dysplasia property_value: exactMatch DOID:0060254 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265205 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776872 property_value: exactMatch https://omim.org/phenotypicSeries/PS268310 property_value: exactMatch NCIT:C85048 property_value: exactMatch Orphanet:97360 [Term] id: MONDO:0019979 name: renal hypoplasia, unilateral def: "Unilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which one kidney is small and has a deficit in the number of nephrons present." [Orphanet:97361] subset: ordo_clinical_subtype {source="Orphanet:97361"} xref: ICD10CM:Q60.3 {source="Orphanet:97361/specific", source="Orphanet:97361/e", source="MONDO:equivalentTo", source="Orphanet:97361"} xref: Orphanet:97361 {source="MONDO:equivalentTo"} is_a: MONDO:0019637 {source="Orphanet:97361"} ! renal hypoplasia property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q60.3 property_value: exactMatch Orphanet:97361 [Term] id: MONDO:0019980 name: renal hypoplasia, bilateral def: "Bilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which both kidneys are small and have a deficit in the number of nephrons present." [Orphanet:97362] subset: ordo_clinical_subtype {source="Orphanet:97362"} xref: ICD10CM:Q60.4 {source="Orphanet:97362/e", source="Orphanet:97362/specific", source="MONDO:equivalentTo", source="Orphanet:97362"} xref: Orphanet:97362 {source="MONDO:equivalentTo"} xref: SCTID:268232000 {source="MONDO:equivalentTo"} is_a: MONDO:0019637 {source="Orphanet:97362"} ! renal hypoplasia property_value: exactMatch http://identifiers.org/snomedct/268232000 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q60.4 property_value: exactMatch Orphanet:97362 [Term] id: MONDO:0019981 name: unilateral multicystic dysplastic kidney def: "Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional." [Orphanet:97363] subset: ordo_clinical_subtype {source="Orphanet:97363"} synonym: "unilateral MCDK" EXACT [Orphanet:97363] synonym: "unilateral multicystic renal dysplasia" EXACT [Orphanet:97363] xref: Orphanet:97363 {source="MONDO:equivalentTo"} is_a: MONDO:0015988 {source="Orphanet:97363"} ! multicystic dysplastic kidney property_value: exactMatch Orphanet:97363 [Term] id: MONDO:0019982 name: bilateral multicystic dysplastic kidney def: "Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional." [Orphanet:97364] subset: ordo_clinical_subtype {source="Orphanet:97364"} synonym: "bilateral MCDK" EXACT [Orphanet:97364] synonym: "bilateral multicystic renal dysplasia" EXACT [Orphanet:97364] synonym: "MRD" RELATED ABBREVIATION [GARD:0009517] synonym: "Pelvi-ureteric junction obstruction" RELATED [GARD:0009517] synonym: "PUJO" RELATED ABBREVIATION [GARD:0009517] xref: Orphanet:97364 {source="MONDO:equivalentTo"} xref: SCTID:717749002 {source="MONDO:equivalentTo"} is_a: MONDO:0015988 {source="Orphanet:97364"} ! multicystic dysplastic kidney property_value: exactMatch http://identifiers.org/snomedct/717749002 property_value: exactMatch Orphanet:97364 [Term] id: MONDO:0019986 name: sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy subset: ordo_histopathological_subtype {source="Orphanet:97555"} xref: Orphanet:97555 {source="MONDO:equivalentObsolete"} xref: UMLS:CN206920 {source="MONDO:equivalentTo"} is_a: MONDO:0019401 {source="Orphanet:97555"} ! sporadic idiopathic steroid-resistant nephrotic syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206920 [Term] id: MONDO:0019992 name: pseudohypoparathyroidism def: "Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP)." [Orphanet:97593] subset: disease_grouping subset: gard_rare {source="GARD:0010758"} subset: ordo_group_of_disorders {source="Orphanet:97593"} xref: DOID:4184 {source="MONDO:equivalentTo"} xref: ICD10CM:E20.1 {source="Orphanet:97593/e", source="Orphanet:97593/specific", source="MONDO:equivalentTo", source="Orphanet:97593", source="DOID:4184"} xref: ICD9:275.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10037126 {source="Orphanet:97593/e", source="Orphanet:97593"} xref: MESH:D011547 {source="Orphanet:97593/e", source="MONDO:equivalentTo", source="Orphanet:97593", source="DOID:4184"} xref: NCIT:C99027 {source="MONDO:equivalentTo", source="DOID:4184"} xref: Orphanet:97593 {source="MONDO:equivalentTo"} xref: SCTID:58976002 {source="MONDO:equivalentTo", source="DOID:4184"} xref: UMLS:C0033806 {source="Orphanet:97593/e", source="MONDO:equivalentTo", source="NCIT:C99027", source="Orphanet:97593", source="DOID:4184"} is_a: MONDO:0004689 {source="DOID:4184", source="MESH:D011547"} ! inborn metal metabolism disorder is_a: MONDO:0015327 {source="Orphanet:97593"} ! developmental anomaly of metabolic origin is_a: MONDO:0015962 {source="Orphanet:97593"} ! inherited renal tubular disease is_a: MONDO:0016165 {source="Orphanet:97593"} ! hereditary hypoparathyroidism property_value: closeMatch http://identifiers.org/meddra/10037126 property_value: exactMatch DOID:4184 property_value: exactMatch http://identifiers.org/mesh/D011547 property_value: exactMatch http://identifiers.org/snomedct/58976002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033806 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E20.1 property_value: exactMatch NCIT:C99027 property_value: exactMatch Orphanet:97593 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10758/pseudohypoparathyroidism xsd:anyURI {source="GARD:0010758"} [Term] id: MONDO:0019994 name: maternal uniparental disomy of chromosome 13 def: "Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier." [Orphanet:97678] subset: ordo_malformation_syndrome {source="Orphanet:97678"} synonym: "maternal uniparental disomy of chromosome type 13" EXACT [MONDORULE:2, Orphanet:97678] synonym: "UPD(13)mat" EXACT [Orphanet:97678] xref: Orphanet:97678 {source="MONDO:equivalentTo"} xref: UMLS:CN036719 {source="MONDO:equivalentTo"} is_a: MONDO:0700020 ! chromosome 13 disorder is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN036719 property_value: exactMatch Orphanet:97678 [Term] id: MONDO:0019995 name: peripheral resistance to thyroid hormones def: "Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth." [Orphanet:97927] subset: gard_rare {source="GARD:0012734"} subset: ordo_disease {source="Orphanet:97927"} xref: Orphanet:97927 {source="MONDO:equivalentObsolete"} xref: SCTID:718193005 {source="MONDO:equivalentTo"} xref: UMLS:C4273673 {source="MONDO:equivalentTo"} xref: UMLS:CN206931 {source="MONDO:equivalentTo"} is_a: MONDO:0016412 {source="Orphanet:97927"} ! peripheral hypothyroidism property_value: exactMatch http://identifiers.org/snomedct/718193005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4273673 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206931 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12734/peripheral-resistance-to-thyroid-hormones xsd:anyURI {source="GARD:0012734"} [Term] id: MONDO:0019998 name: gastroduodenal malformation comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:97944"} xref: Orphanet:97944 {source="MONDO:equivalentTo"} is_a: MONDO:0020019 {source="Orphanet:97944"} ! digestive tract malformation property_value: exactMatch Orphanet:97944 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0019999 name: intestinal malformation comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:97945"} xref: Orphanet:97945 {source="MONDO:equivalentTo"} is_a: MONDO:0020019 {source="Orphanet:97945"} ! digestive tract malformation property_value: exactMatch Orphanet:97945 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020001 name: respiratory or thoracic malformation subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:97957"} xref: Orphanet:97957 {source="MONDO:equivalentTo"} is_a: EFO:0000684 {source="Orphanet:97957"} ! respiratory system disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0020000"} ! rare property_value: exactMatch Orphanet:97957 [Term] id: MONDO:0020010 name: infectious disorder of the nervous system def: "A infectious disease that involves the nervous system." [MONDO:patterns/location] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98010"} synonym: "nervous system infectious disease" EXACT [MONDO:patterns/location] synonym: "nervous system infectious disorder" EXACT [NCIT:C27590] xref: ICD9:349.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C27590 {source="MONDO:equivalentTo"} xref: Orphanet:98010 {source="MONDO:equivalentTo"} xref: SCTID:128116006 {source="MONDO:equivalentTo"} xref: UMLS:C0597039 {source="Orphanet:98010/e", source="MONDO:equivalentTo", source="NCIT:C27590", source="Orphanet:98010"} is_a: EFO:0000618 {source="Orphanet:98010"} ! nervous system disease is_a: EFO:0005741 ! infectious disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0020009"} ! rare property_value: exactMatch http://identifiers.org/snomedct/128116006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0597039 property_value: exactMatch NCIT:C27590 property_value: exactMatch Orphanet:98010 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0020018 name: cranial malformation comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98038"} xref: Orphanet:98038 {source="MONDO:equivalentTo"} is_a: MONDO:0019755 {source="Orphanet:98038"} ! developmental defect during embryogenesis property_value: exactMatch Orphanet:98038 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020019 name: digestive tract malformation comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98039"} xref: Orphanet:98039 {source="MONDO:equivalentTo"} is_a: MONDO:0019755 {source="Orphanet:98039"} ! developmental defect during embryogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015621"} ! rare property_value: exactMatch Orphanet:98039 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020020 name: visceral malformation of the liver, biliary tract, pancreas or spleen comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98041"} xref: Orphanet:98041 {source="MONDO:equivalentTo"} is_a: MONDO:0019755 {source="Orphanet:98041"} ! developmental defect during embryogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015621"} ! rare property_value: exactMatch Orphanet:98041 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0020022 name: central nervous system malformation subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98044"} xref: ICD10CM:Q00-Q07 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: MESH:D009421 {source="MONDO:equivalentTo"} xref: Orphanet:98044 {source="MONDO:equivalentTo"} is_a: EFO:0000618 {source="Orphanet:98044"} ! nervous system disease is_a: MONDO:0019755 {source="Orphanet:98044"} ! developmental defect during embryogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0020009"} ! rare property_value: exactMatch http://identifiers.org/mesh/D009421 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q00-Q07 property_value: exactMatch Orphanet:98044 [Term] id: MONDO:0020023 name: respiratory or mediastinal malformation comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98045"} xref: Orphanet:98045 {source="MONDO:equivalentTo"} is_a: MONDO:0019755 {source="Orphanet:98045"} ! developmental defect during embryogenesis property_value: exactMatch Orphanet:98045 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020039 name: 46,XX disorder of sex development induced by androgens excess comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98078"} synonym: "46,XX DSD induced by androgens excess" EXACT [Orphanet:98078] xref: Orphanet:98078 {source="MONDO:equivalentTo"} xref: UMLS:CN227738 {source="MONDO:equivalentTo"} is_a: MONDO:0017576 {source="Orphanet:98078"} ! 46,XX disorder of sex development property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227738 property_value: exactMatch Orphanet:98078 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020040 name: 46,XY disorder of sex development def: "Differences of sex development in individuals with 46,XY karyotype." [NCIT:C127171] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98085"} synonym: "46, XY disorders of sexual development" RELATED [GARD:0008538] synonym: "46, XY DSD" RELATED [GARD:0008538] synonym: "46, XY female" RELATED [GARD:0008538] synonym: "46,XY differences of Sex development" EXACT [NCIT:C127171] synonym: "46,XY disorders of Sex development" EXACT [NCIT:C127171] synonym: "46,XY DSD" EXACT [Orphanet:98085] synonym: "XY female" RELATED [GARD:0008538] xref: MESH:D058490 {source="Orphanet:98085/e", source="MONDO:equivalentTo", source="Orphanet:98085"} xref: NCIT:C127171 {source="MONDO:equivalentTo"} xref: Orphanet:325706 {source="MONDO:mondoIsBroaderThanSource"} xref: Orphanet:98085 {source="MONDO:equivalentTo"} xref: SCTID:8234004 {source="MONDO:equivalentTo"} xref: UMLS:C2751824 {source="Orphanet:98085/e", source="MONDO:equivalentTo", source="Orphanet:98085", source="NCIT:C127171"} is_a: MONDO:0002145 {source="MESH:D058490", source="NCIT:C127171", source="Orphanet:98085"} ! disorder of sexual differentiation property_value: exactMatch http://identifiers.org/mesh/D058490 property_value: exactMatch http://identifiers.org/snomedct/8234004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751824 property_value: exactMatch NCIT:C127171 property_value: exactMatch Orphanet:98085 [Term] id: MONDO:0020043 name: autosomal recessive congenital cerebellar ataxia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98095"} xref: Orphanet:98095 {source="MONDO:equivalentTo"} is_a: MONDO:0015244 {source="Orphanet:98095"} ! autosomal recessive cerebellar ataxia property_value: exactMatch Orphanet:98095 [Term] id: MONDO:0020044 name: autosomal recessive metabolic cerebellar ataxia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98096"} xref: Orphanet:98096 {source="MONDO:equivalentTo"} xref: UMLS:CN229258 {source="MONDO:equivalentTo"} is_a: MONDO:0015244 {source="Orphanet:98096"} ! autosomal recessive cerebellar ataxia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229258 property_value: exactMatch Orphanet:98096 [Term] id: MONDO:0020046 name: autosomal recessive degenerative and progressive cerebellar ataxia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98098"} xref: Orphanet:98098 {source="MONDO:equivalentTo"} xref: UMLS:CN229259 {source="MONDO:equivalentTo"} is_a: MONDO:0015244 {source="Orphanet:98098"} ! autosomal recessive cerebellar ataxia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229259 property_value: exactMatch Orphanet:98098 [Term] id: MONDO:0020047 name: autosomal recessive syndromic cerebellar ataxia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98099"} xref: Orphanet:98099 {source="MONDO:equivalentTo"} xref: UMLS:CN227742 {source="MONDO:equivalentTo"} is_a: MONDO:0015244 {source="Orphanet:98099"} ! autosomal recessive cerebellar ataxia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227742 property_value: exactMatch Orphanet:98099 [Term] id: MONDO:0020049 name: autosomal anomaly def: "Chromosomal disorder in which the chromosomal anomaly involves an autosome." [MONDO:patterns/location] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98127"} synonym: "autosome chromosomal anomaly" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "chromosomal anomaly of autosome" EXACT [MONDO:design_pattern] xref: Orphanet:98127 {source="MONDO:equivalentTo"} xref: UMLS:CN227743 {source="MONDO:equivalentTo"} is_a: MONDO:0019040 {source="MONDO:Redundant", source="Orphanet:98127"} ! chromosomal disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227743 property_value: exactMatch Orphanet:98127 [Term] id: MONDO:0020050 name: obsolete autosomal trisomy comment: Reason: grouping class. Term to consider: MONDO:0700065 subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98130"} synonym: "autosomal duplication" EXACT [Orphanet:98130] synonym: "chromosomal triplication" RELATED [GARD:0006065] synonym: "trisomy" BROAD [NCIT:C3421] xref: ICD9:758.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:98130 {source="MONDO:obsoleteEquivalent"} xref: SCTID:429442006 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C1996945 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://identifiers.org/snomedct/429442006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1996945 property_value: exactMatch Orphanet:98130 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4272 xsd:anyURI is_obsolete: true consider: MONDO:0700065 [Term] id: MONDO:0020051 name: obsolete total autosomal trisomy comment: Reason: grouping class specific to autosomal disorder. Term to consider: trisomy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98131"} xref: Orphanet:98131 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch Orphanet:98131 property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4272 xsd:anyURI is_obsolete: true consider: MONDO:0700065 [Term] id: MONDO:0020052 name: obsolete partial autosomal trisomy/tetrasomy comment: Reason: grouping class specific to autosomal disorder. Term to consider: syndrome caused by partial chromosomal duplication subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98132"} xref: Orphanet:98132 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch Orphanet:98132 property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4272 xsd:anyURI is_obsolete: true consider: MONDO:0000762 [Term] id: MONDO:0020053 name: obsolete total autosomal monosomy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98141"} xref: Orphanet:98141 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch Orphanet:98141 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4272 xsd:anyURI is_obsolete: true consider: MONDO:0020639 [Term] id: MONDO:0020054 name: obsolete partial autosomal monosomy comment: Reason: grouping class. Term to consider: MONDO:0000761 subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98142"} synonym: "partial autosomal deletion" EXACT [Orphanet:98142] xref: ICD10CM:Q93.3 {source="Orphanet:98142/specific", source="MONDO:relatedTo", source="Orphanet:98142/btnt", source="Orphanet:98142"} xref: Orphanet:98142 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch Orphanet:98142 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4272 xsd:anyURI is_obsolete: true consider: MONDO:0000761 [Term] id: MONDO:0020055 name: obsolete autosomal uniparental disomy comment: Reason: grouping class. Term to consider: MONDO:0700086 subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98152"} xref: Orphanet:98152 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN229262 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229262 property_value: exactMatch Orphanet:98152 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4272 xsd:anyURI is_obsolete: true consider: MONDO:0700086 [Term] id: MONDO:0020056 name: obsolete uniparental disomy of maternal origin comment: Reason: grouping class. Term to consider: none subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98153"} xref: Orphanet:98153 {source="MONDO:obsoleteEquivalent"} xref: SCTID:726401004 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://identifiers.org/snomedct/726401004 property_value: exactMatch Orphanet:98153 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4272 xsd:anyURI is_obsolete: true [Term] id: MONDO:0020057 name: obsolete uniparental disomy of paternal origin comment: Reason: grouping class. Term to consider: none subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98154"} xref: Orphanet:98154 {source="MONDO:obsoleteEquivalent"} xref: SCTID:726402006 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://identifiers.org/snomedct/726402006 property_value: exactMatch Orphanet:98154 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4272 xsd:anyURI is_obsolete: true [Term] id: MONDO:0020058 name: gonosome anomaly def: "Chromosomal disorder in which the chromosomal anomaly involves an gonosome. A gonosome is a chromosome responsible for sex determination. In humans and most animals, the sex chromosomes are designated X and Y." [https://orcid.org/0000-0002-4142-7153] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98155"} synonym: "Sex-chromosome anomaly" EXACT [Orphanet:98155] xref: ICD9:758.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:758.81 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:98155 {source="MONDO:equivalentTo"} xref: SCTID:95462004 {source="MONDO:equivalentTo"} is_a: MONDO:0019040 {source="Orphanet:98155"} ! chromosomal disorder property_value: exactMatch http://identifiers.org/snomedct/95462004 property_value: exactMatch Orphanet:98155 [Term] id: MONDO:0020059 name: obsolete gonosome number anomaly comment: Reason: grouping class. Term to consider: MONDO:0700064 subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98156"} synonym: "Sex-chromosome number anomaly" EXACT [Orphanet:98156] xref: Orphanet:98156 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch Orphanet:98156 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4272 xsd:anyURI is_obsolete: true consider: MONDO:0700064 [Term] id: MONDO:0020060 name: obsolete gonosome structural anomaly comment: Reason: grouping class. Term to consider: none subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98157"} synonym: "Sex-chromosome structural anomaly" EXACT [Orphanet:98157] xref: Orphanet:98157 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch Orphanet:98157 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4272 xsd:anyURI is_obsolete: true [Term] id: MONDO:0020061 name: obsolete chromosome Y structural anomaly comment: Reason: grouping class. Term to consider: none subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98158"} xref: Orphanet:98158 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch Orphanet:98158 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4272 xsd:anyURI is_obsolete: true [Term] id: MONDO:0020062 name: obsolete chromosome X structural anomaly comment: Reason: grouping class. Term to consider: none subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98159"} xref: Orphanet:98159 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch Orphanet:98159 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4272 xsd:anyURI is_obsolete: true [Term] id: MONDO:0020065 name: combined dystonia def: "A dystonia that is combined with another movement disorder (e.g., myoclonus, parkinsonism)." [https://www.ncbi.nlm.nih.gov/books/NBK1155/] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98203"} synonym: "dystonia-plus syndrome" EXACT [Orphanet:98203] xref: Orphanet:98203 {source="MONDO:equivalentTo"} xref: UMLS:CN206969 {source="MONDO:equivalentTo"} is_a: MONDO:0044807 {source="Orphanet:98203"} ! inherited dystonia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206969 property_value: exactMatch Orphanet:98203 [Term] id: MONDO:0020066 name: Ehlers-Danlos syndrome def: "The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility." [PMID:28306229] subset: disease_grouping subset: gard_rare subset: ordo_group_of_disorders {source="Orphanet:98249"} synonym: "Danlos disease" EXACT [SCTID:398114001] synonym: "Danlos Disease, Ehlers" EXACT [MESH:D004535] synonym: "danlos ehlers syndrome" EXACT [UMLS:C0013720] synonym: "Disease, Ehlers Danlos" EXACT [MESH:D004535] synonym: "Disease, Ehlers-Danlos" EXACT [MESH:D004535, UMLS:C0013720] synonym: "Dystrophia mesodermalis congenita" EXACT [SCTID:398114001] synonym: "ED syndrome" RELATED [GARD:0006322, MedGen:41720] synonym: "EDS" EXACT ABBREVIATION [GARD:0006322, ICD11:LD08.1, MedGen:41720, PMID:28306229, UMLS:C0013720] synonym: "Ehler Danlos Syndrome" EXACT [UMLS:C0013720] synonym: "Ehlers Danlos Disease" EXACT [MESH:D004535, UMLS:C0013720] synonym: "Ehlers Danlos syndrome" EXACT [GARD:0006322, MESH:D004535, UMLS:C0013720] synonym: "Ehlers-Danlos Disease" EXACT [MESH:D004535, UMLS:C0013720] synonym: "Ehlers-Danlos syndromes" EXACT [GARD:0006322, NCIT:C34568, SCTID:398114001, UMLS:C0013720] synonym: "elastic skin" EXACT [DOID:13359, UMLS:C0013720] synonym: "Fibrodysplasia elastica generalisata" EXACT [SCTID:398114001] synonym: "Hereditary collagen dysplasia" EXACT [SCTID:398114001] synonym: "Meekeren-Ehlers-Danlos syndrome" EXACT [SCTID:398114001] synonym: "skin elastic" EXACT [UMLS:C0013720] synonym: "Syndrome, Ehlers-Danlos" EXACT [MESH:D004535, UMLS:C0013720] xref: DOID:13359 {source="MONDO:equivalentTo"} xref: ICD10CM:Q79.6 {source="DOID:13359", source="Orphanet:98249", source="MONDO:equivalentTo", source="Orphanet:98249/specific", source="Orphanet:98249/e"} xref: ICD9:756.83 {source="DOID:13359", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10014316 {source="Orphanet:98249", source="Orphanet:98249/e"} xref: MESH:D004535 {source="DOID:13359", source="Orphanet:98249", source="MONDO:equivalentTo", source="Orphanet:98249/e"} xref: NCIT:C34568 {source="DOID:13359", source="MONDO:equivalentTo"} xref: OMIMPS:130000 {source="MONDO:equivalentTo"} xref: Orphanet:98249 {source="MONDO:equivalentTo"} xref: SCTID:398114001 {source="DOID:13359", source="MONDO:equivalentTo"} xref: UMLS:C0013720 {source="DOID:13359", source="Orphanet:98249", source="MONDO:equivalentTo", source="Orphanet:98249/e", source="NCIT:C34568"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0002254 {source="NCIT:C34568"} ! syndromic disease is_a: MONDO:0019755 {source="MONDO:0015332-obsoleted"} ! developmental defect during embryogenesis property_value: closeMatch http://identifiers.org/meddra/10014316 property_value: exactMatch DOID:13359 property_value: exactMatch http://identifiers.org/mesh/D004535 property_value: exactMatch http://identifiers.org/snomedct/398114001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013720 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q79.6 property_value: exactMatch https://omim.org/phenotypicSeries/PS130000 property_value: exactMatch NCIT:C34568 property_value: exactMatch Orphanet:98249 property_value: excluded_subClassOf MONDO:0019292 {source="Orphanet:98249"} property_value: excluded_subClassOf MONDO:0023603 {source="https://orcid.org/0000-0002-1780-5230"} property_value: excluded_synonym "Cutis hyperelastica" xsd:string {xref="DOID:13359", xref="ICD11:LD08.1", xref="SCTID:238848002", xref="SCTID:398114001", xref="UMLS:C0013720"} property_value: excluded_synonym "India rubber skin" xsd:string {xref="SCTID:398114001"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5682 xsd:anyURI [Term] id: MONDO:0020067 name: infectious encephalitis def: "An acute infectious process that affects the brain tissue. It is usually caused by viruses and less often by bacteria, parasites, and fungi." [NCIT:C79550] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98252"} synonym: "encephalitis infection" EXACT [NCIT:C79550] xref: ICD9:049.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:323.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D000069544 {source="MONDO:equivalentTo"} xref: NCIT:C79550 {source="MONDO:equivalentTo"} xref: SCTID:312215006 {source="MONDO:equivalentTo"} is_a: EFO:1001456 {source="MESH:D000069544", source="MONDO:Redundant"} ! central nervous system infection is_a: MONDO:0019956 {source="MESH:D000069544", source="MONDO:Redundant", source="NCIT:C79550"} ! encephalitis intersection_of: EFO:0005741 ! infectious disease intersection_of: MONDO:0019956 ! encephalitis property_value: exactMatch http://identifiers.org/mesh/D000069544 property_value: exactMatch http://identifiers.org/snomedct/312215006 property_value: exactMatch NCIT:C79550 [Term] id: MONDO:0020068 name: postinfectious encephalitis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98253"} xref: DOID:10993 {source="MONDO:equivalentTo"} xref: ICD9:323.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10057235 {source="Orphanet:98253/e", source="Orphanet:98253"} xref: Orphanet:98253 {source="MONDO:equivalentObsolete"} xref: SCTID:192727001 {source="MONDO:equivalentTo"} xref: UMLS:C0393459 {source="Orphanet:98253/e", source="MONDO:equivalentTo", source="Orphanet:98253"} is_a: MONDO:0020067 ! infectious encephalitis is_a: MONDO:0021669 ! post-infectious disorder intersection_of: MONDO:0019956 ! encephalitis intersection_of: disease_arises_from_feature EFO:0005741 ! infectious disease property_value: closeMatch http://identifiers.org/meddra/10057235 property_value: exactMatch DOID:10993 property_value: exactMatch http://identifiers.org/snomedct/192727001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393459 [Term] id: MONDO:0020069 name: chronic encephalitis def: "Chronic form of encephalitis." [MONDO:patterns/chronic] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98255"} synonym: "encephalitis, chronic" EXACT [MONDO:patterns/chronic] xref: Orphanet:98255 {source="MONDO:equivalentTo"} xref: UMLS:C0006109 {source="MONDO:equivalentTo"} is_a: MONDO:0020067 ! infectious encephalitis property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006109 property_value: exactMatch Orphanet:98255 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020070 name: neonatal epilepsy syndrome comment: This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98257"} xref: Orphanet:98257 {source="MONDO:equivalentTo"} xref: UMLS:CN206974 {source="MONDO:equivalentTo"} is_a: MONDO:0015650 {source="MONDO:Redundant", source="Orphanet:98257"} ! epilepsy syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206974 property_value: exactMatch Orphanet:98257 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1640 xsd:anyURI [Term] id: MONDO:0020071 name: infantile epilepsy syndrome def: "An epilepsy syndrome that occurs between 28 days to one year of life." [MONDO:design_pattern] comment: This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98258"} synonym: "epilepsy syndrome of infancy" EXACT [MONDO:design_pattern, MONDO:patterns/infantile] synonym: "infantile epilepsy syndrome" EXACT [] synonym: "infantile onset epilepsy syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/infantile] xref: Orphanet:98258 {source="MONDO:equivalentTo"} xref: UMLS:CN206975 {source="MONDO:equivalentTo"} is_a: MONDO:0015650 {source="MONDO:Redundant", source="Orphanet:98258"} ! epilepsy syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206975 property_value: exactMatch Orphanet:98258 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1640 xsd:anyURI [Term] id: MONDO:0020072 name: childhood-onset epilepsy syndrome def: "A epilepsy syndrome that occurs during childhood." [MONDO:design_pattern] comment: This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98259"} synonym: "childhood epilepsy syndrome" EXACT [MONDO:design_pattern] synonym: "childhood-onset epilepsy syndrome" EXACT [] synonym: "epilepsy syndrome of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "paediatric epilepsy syndrome" EXACT OMO:0003005 [] synonym: "pediatric epilepsy syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] xref: Orphanet:98259 {source="MONDO:equivalentTo"} xref: UMLS:CN206976 {source="MONDO:equivalentTo"} is_a: MONDO:0015650 {source="MONDO:Redundant", source="Orphanet:98259"} ! epilepsy syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206976 property_value: exactMatch Orphanet:98259 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1640 xsd:anyURI [Term] id: MONDO:0020073 name: adolescent-onset epilepsy syndrome comment: This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98260"} xref: Orphanet:98260 {source="MONDO:equivalentTo"} xref: UMLS:CN206977 {source="MONDO:equivalentTo"} is_a: MONDO:0015650 {source="Orphanet:98260"} ! epilepsy syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206977 property_value: exactMatch Orphanet:98260 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1640 xsd:anyURI [Term] id: MONDO:0020074 name: progressive myoclonus epilepsy def: "A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system." [NCIT:C7636] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98261"} synonym: "epilepsy, progressive myoclonic" EXACT [OMIMPS:254800] synonym: "familial progressive myoclonic epilepsy" RELATED [GARD:0007140] synonym: "PME" EXACT ABBREVIATION [DOID:891, Orphanet:98261] synonym: "progressive myoclonic epilepsy" EXACT [DOID:891] synonym: "progressive myoclonic epilepsy (disorder) [ambiguous]" EXACT [DOID:891] synonym: "progressive myoclonus epilepsy" EXACT [DOID:891, MONDO:0004676, NCIT:C7636, Orphanet:98261] xref: DOID:891 {source="MONDO:equivalentTo"} xref: MESH:D020191 {source="Orphanet:98261/e", source="MONDO:equivalentTo", source="DOID:891", source="Orphanet:98261"} xref: NCIT:C7636 {source="MONDO:equivalentTo", source="DOID:891"} xref: OMIMPS:254800 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:98261 {source="MONDO:equivalentTo"} xref: SCTID:267581004 {source="MONDO:equivalentTo", source="DOID:891"} xref: UMLS:C0751778 {source="Orphanet:98261/e", source="MONDO:equivalentTo", source="DOID:891", source="NCIT:C7636", source="Orphanet:98261"} is_a: MONDO:0015653 ! monogenic epilepsy is_a: MONDO:0020072 {source="Orphanet:98261"} ! childhood-onset epilepsy syndrome is_a: MONDO:0020073 {source="Orphanet:98261"} ! adolescent-onset epilepsy syndrome is_a: MONDO:0100036 {source="DOID:891"} ! variable age onset epilepsy property_value: exactMatch DOID:891 property_value: exactMatch http://identifiers.org/mesh/D020191 property_value: exactMatch http://identifiers.org/snomedct/267581004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751778 property_value: exactMatch https://omim.org/phenotypicSeries/PS254800 property_value: exactMatch NCIT:C7636 property_value: exactMatch Orphanet:98261 [Term] id: MONDO:0020075 name: hereditary non-syndromic obesity subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98267"} synonym: "genetic isolated obesity" EXACT [] synonym: "genetic non-syndromic obesity" EXACT [Orphanet:98267] synonym: "monogenic isolated obesity" EXACT [] synonym: "monogenic obesity due to a leptin-melanocortin pathway anomaly" NARROW [Orphanet:98267] xref: Orphanet:98267 {source="MONDO:equivalentTo"} is_a: MONDO:0019182 {source="Orphanet:98267"} ! inherited obesity intersection_of: MONDO:0019182 ! inherited obesity intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation relationship: has_characteristic MONDO:0021128 ! has an isolated presentation property_value: exactMatch Orphanet:98267 [Term] id: MONDO:0020077 name: myelodysplastic/myeloproliferative disease def: "Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE disorderS." [MESH:D054437] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98275"} xref: MESH:D054437 {source="Orphanet:98275/e", source="MONDO:equivalentTo", source="Orphanet:98275"} xref: Orphanet:98275 {source="MONDO:equivalentTo"} is_a: MONDO:0015756 {source="Orphanet:98275"} ! myeloid hemopathy property_value: exactMatch http://identifiers.org/mesh/D054437 property_value: exactMatch Orphanet:98275 [Term] id: MONDO:0020081 name: macrophage or histiocytic tumor comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98288"} xref: Orphanet:98288 {source="MONDO:equivalentTo"} xref: UMLS:CN206983 {source="MONDO:equivalentTo"} is_a: EFO:1000297 {source="Orphanet:98288"} ! Histiocytic and Dendritic Cell Neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206983 property_value: exactMatch Orphanet:98288 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020082 name: dendritic cell tumor def: "A dendritic cell tumor develops from the cells of the immune system. This condition typically begins in the lymph system and may spread to nearby organs or distant parts of the body (metastasize). There are five subtypes of dendritic cell tumors: follicular dendritic cell tumor, interdigitating dendritic cell tumor, Langerhans' cell histiocytosis, Langerhans' cell sarcoma, and dendritic cell sarcoma not specified otherwise. The symptoms and severity of the condition depend on the subtype and location of the tumor. Treatment may include surgery, radiation therapy, and/or chemotherapy." [https://rarediseases.info.nih.gov/diseases/8317/dendritic-cell-tumor] subset: disease_grouping subset: gard_rare {source="GARD:0008317"} subset: ordo_group_of_disorders {source="Orphanet:98289"} synonym: "Dendritic cell neoplasm" RELATED [GARD:0008317] synonym: "Dendritic cell sarcoma, NOS" NARROW [NCIT:C27260] synonym: "Dendritic cell sarcoma, Not otherwise specified" NARROW [NCIT:C27260] synonym: "Dendritic cell tumor, NOS" NARROW [NCIT:C27260] synonym: "Dendritic cell tumor, Not otherwise specified" NARROW [NCIT:C27260] xref: NCIT:C27260 {source="MONDO:directSiblingOf"} xref: Orphanet:98289 {source="MONDO:equivalentTo"} xref: SCTID:737223000 {source="MONDO:equivalentTo"} xref: UMLS:CN206984 {source="MONDO:equivalentTo"} is_a: EFO:1000297 {source="NCIT:C27260", source="Orphanet:98289"} ! Histiocytic and Dendritic Cell Neoplasm property_value: exactMatch http://identifiers.org/snomedct/737223000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206984 property_value: exactMatch Orphanet:98289 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8317/dendritic-cell-tumor xsd:anyURI {source="GARD:0008317"} [Term] id: MONDO:0020087 name: hereditary lipodystrophy def: "An instance of lipodystrophy that is caused by an inherited genomic modification in an individual." [MONDO:patterns/hereditary] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98305"} synonym: "genetic lipodystrophy" EXACT [Orphanet:98305] synonym: "genetic lipodystrophy (disease)" EXACT [MONDO:patterns/genetic] xref: Orphanet:98305 {source="MONDO:equivalentTo"} xref: SCTID:724841000 {source="MONDO:equivalentTo"} xref: UMLS:C4511302 {source="MONDO:equivalentTo"} is_a: EFO:1000727 {source="MONDO:Redundant", source="Orphanet:98305"} ! lipodystrophy is_a: MONDO:0019052 ! inborn errors of metabolism is_a: MONDO:0019599 {source="Orphanet:98305"} ! primary lipodystrophy is_a: MONDO:0100118 ! hereditary skin disorder intersection_of: EFO:1000727 ! lipodystrophy intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/snomedct/724841000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4511302 property_value: exactMatch Orphanet:98305 [Term] id: MONDO:0020088 name: familial partial lipodystrophy def: "Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis." [Orphanet:98306] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98306"} synonym: "congenital partial lipodystrophy" EXACT [NCIT:C84708] synonym: "FPLD" EXACT ABBREVIATION [Orphanet:98306] synonym: "genetic partial lipodystrophy" EXACT [MONDO:patterns/genetic] synonym: "Koberling-Dunnigan syndrome" EXACT [DOID:0050440] synonym: "lipodystrophy, familial partial" EXACT [OMIMPS:151660] xref: DOID:0050440 {source="MONDO:equivalentTo"} xref: MESH:D052496 {source="DOID:0050440", source="MONDO:equivalentTo", source="Orphanet:98306", source="Orphanet:98306/e"} xref: NCIT:C84708 {source="DOID:0050440", source="MONDO:equivalentTo"} xref: OMIMPS:151660 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:98306 {source="MONDO:equivalentTo"} xref: SCTID:49292002 {source="DOID:0050440", source="MONDO:equivalentTo"} xref: UMLS:C0271694 {source="DOID:0050440", source="MONDO:equivalentTo", source="Orphanet:98306", source="NCIT:C84708", source="Orphanet:98306/e"} is_a: MONDO:0020087 {source="MONDO:Redundant", source="Orphanet:98306"} ! hereditary lipodystrophy is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy is_a: MONDO:0027767 {source="DOID:0050440", source="MONDO:Redundant", source="NCIT:C84708"} ! partial lipodystrophy intersection_of: MONDO:0027767 ! partial lipodystrophy intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch DOID:0050440 property_value: exactMatch http://identifiers.org/mesh/D052496 property_value: exactMatch http://identifiers.org/snomedct/49292002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271694 property_value: exactMatch https://omim.org/phenotypicSeries/PS151660 property_value: exactMatch NCIT:C84708 property_value: exactMatch Orphanet:98306 [Term] id: MONDO:0020089 name: acquired lipodystrophy def: "An instance of lipodystrophy (disease) that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98307"} synonym: "acquired lipodystrophy (disease)" EXACT [MONDO:patterns/acquired] xref: MedDRA:10049287 {source="Orphanet:98307", source="Orphanet:98307/e"} xref: Orphanet:98307 {source="MONDO:equivalentTo"} xref: UMLS:C0877192 {source="MONDO:equivalentTo", source="Orphanet:98307", source="Orphanet:98307/e"} is_a: EFO:1000639 ! acquired metabolic disease is_a: EFO:1000727 ! lipodystrophy intersection_of: EFO:1000727 ! lipodystrophy intersection_of: has_characteristic MONDO:0021141 ! acquired property_value: closeMatch http://identifiers.org/meddra/10049287 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0877192 property_value: exactMatch Orphanet:98307 [Term] id: MONDO:0020093 name: autosomal dominant isolated diffuse palmoplantar keratoderma def: "Autosomal dominant form of isolated diffuse palmoplantar keratoderma." [MONDO:patterns/autosomal_dominant] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98349"} synonym: "autosomal dominant isolated diffuse palmoplantar hyperkeratosis" EXACT [Orphanet:98349] synonym: "isolated diffuse palmoplantar keratoderma, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: Orphanet:98349 {source="MONDO:equivalentTo"} xref: UMLS:CN229268 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0017667 {source="MONDO:Redundant", source="Orphanet:98349"} ! isolated diffuse palmoplantar keratoderma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229268 property_value: exactMatch Orphanet:98349 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020094 name: obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature def: "OBSOLETE. Autosomal dominant form of disease with diffuse palmoplantar keratoderma as a major feature." [MONDO:patterns/autosomal_dominant] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98352"} synonym: "autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:98352] synonym: "disease with diffuse palmoplantar keratoderma as a major feature, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: Orphanet:98352 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206998 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206998 property_value: exactMatch Orphanet:98352 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI is_obsolete: true [Term] id: MONDO:0020095 name: obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature def: "OBSOLETE. Autosomal dominant form of disease with focal palmoplantar keratoderma as a major feature." [MONDO:patterns/autosomal_dominant] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98353"} synonym: "autosomal dominant disease associated with focal palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:98353] synonym: "autosomal dominant disease with focal palmoplantar keratoderma as a major feature" EXACT [MONDO:design_pattern] synonym: "disease with focal palmoplantar keratoderma as a major feature, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: Orphanet:98353 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206999 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206999 property_value: exactMatch Orphanet:98353 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI is_obsolete: true [Term] id: MONDO:0020096 name: autosomal recessive isolated diffuse palmoplantar keratoderma def: "Autosomal recessive form of isolated diffuse palmoplantar keratoderma." [MONDO:patterns/autosomal_recessive] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98356"} synonym: "autosomal recessive isolated diffuse palmoplantar hyperkeratosis" EXACT [Orphanet:98356] synonym: "isolated diffuse palmoplantar keratoderma, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] xref: Orphanet:98356 {source="MONDO:equivalentTo"} xref: UMLS:CN229269 {source="MONDO:equivalentTo"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0017667 {source="MONDO:Redundant", source="Orphanet:98356"} ! isolated diffuse palmoplantar keratoderma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229269 property_value: exactMatch Orphanet:98356 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020097 name: obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature def: "OBSOLETE. Autosomal recessive form of disease with focal palmoplantar keratoderma as a major feature." [MONDO:patterns/autosomal_recessive] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98357"} synonym: "autosomal recessive disease with focal palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:98357] synonym: "disease with focal palmoplantar keratoderma as a major feature, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] xref: Orphanet:98357 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN207000 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207000 property_value: exactMatch Orphanet:98357 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI is_obsolete: true [Term] id: MONDO:0020099 name: inherited sideroblastic anemia comment: We are pretty sure Orphanet means inherited/hereditary. This was renamed from constitutional sideroblastic anemia. subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98362"} synonym: "constitutional sideroblastic anaemia" EXACT OMO:0003005 [] synonym: "constitutional sideroblastic anemia" EXACT [Orphanet:98362] xref: OMIMPS:300751 {source="MONDO:equivalentTo"} xref: Orphanet:98362 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0015194 {source="Orphanet:98362"} ! sideroblastic anemia intersection_of: MONDO:0015194 {source="https://github.com/monarch-initiative/mondo/pull/2076"} ! sideroblastic anemia intersection_of: has_characteristic MONDO:0021152 {source="https://github.com/monarch-initiative/mondo/pull/2076"} ! inherited property_value: exactMatch https://omim.org/phenotypicSeries/PS300751 property_value: exactMatch Orphanet:98362 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/pull/2076 xsd:anyURI [Term] id: MONDO:0020102 name: hereditary stomatocytosis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98365"} synonym: "hereditary stomatocytic disease" EXACT [Orphanet:98365] xref: ICD9:282.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:98365 {source="MONDO:equivalentTo"} xref: SCTID:14087004 {source="MONDO:equivalentTo"} xref: UMLS:C1262483 {source="MONDO:equivalentTo", source="Orphanet:98365"} is_a: MONDO:0004139 ! normocytic anemia property_value: exactMatch http://identifiers.org/snomedct/14087004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1262483 property_value: exactMatch Orphanet:98365 [Term] id: MONDO:0020104 name: obsolete rare constitutional hemolytic anemia due to an enzyme disorder subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98369"} xref: Orphanet:98369 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227782 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227782 property_value: exactMatch Orphanet:98369 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true [Term] id: MONDO:0020112 name: vitamin B12- and folate-independent constitutional megaloblastic anemia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98415"} xref: ICD10CM:D53.0 {source="Orphanet:98415/ntbt", source="MONDO:relatedTo", source="Orphanet:98415/inclusion", source="Orphanet:98415"} xref: Orphanet:98415 {source="MONDO:equivalentTo"} is_a: MONDO:0001700 {source="MONDO:cjm"} ! megaloblastic anemia is_a: MONDO:0016624 {source="Orphanet:98415"} ! inherited deficiency anemia property_value: exactMatch Orphanet:98415 [Term] id: MONDO:0020115 name: secondary polycythemia def: "Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia)." [Orphanet:98428] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98428"} synonym: "secondary erythrocytosis" EXACT [Orphanet:98428] synonym: "secondary polycythemia" EXACT [NCIT:C27178] xref: MedDRA:10036062 {source="Orphanet:98428", source="Orphanet:98428/e"} xref: NCIT:C27178 {source="MONDO:equivalentTo"} xref: Orphanet:98428 {source="MONDO:equivalentTo"} xref: UMLS:C1318533 {source="NCIT:C27178", source="MONDO:equivalentTo", source="Orphanet:98428", source="Orphanet:98428/e"} is_a: EFO:0005804 {source="NCIT:C27178/inferred", source="Orphanet:98428", source="Orphanet:98428/inferred"} ! polycythemia property_value: closeMatch http://identifiers.org/meddra/10036062 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1318533 property_value: exactMatch NCIT:C27178 property_value: exactMatch Orphanet:98428 property_value: excluded_subClassOf MONDO:0015549 {source="Orphanet:98428"} [Term] id: MONDO:0020117 name: alpha granule disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98455"} xref: Orphanet:98455 {source="MONDO:equivalentTo"} xref: UMLS:CN207009 {source="MONDO:equivalentTo"} is_a: MONDO:0016361 {source="Orphanet:98455", source="https://orcid.org/0000-0001-5208-3432"} ! isolated hereditary giant platelet disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207009 property_value: exactMatch Orphanet:98455 [Term] id: MONDO:0020118 name: dense granule disease comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98456"} synonym: "Delta granule disease" EXACT [Orphanet:98456] xref: Orphanet:98456 {source="MONDO:equivalentTo"} xref: UMLS:CN207010 {source="MONDO:equivalentTo"} is_a: MONDO:0018795 {source="Orphanet:98456"} ! syndromic constitutional thrombocytopenia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207010 property_value: exactMatch Orphanet:98456 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0020119 name: X-linked syndromic intellectual disability def: "A syndromic intellectual disability with an X-linked mode of inheritance." [https://orcid.org/0000-0002-6601-2165] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98464"} synonym: "intellectual disability, X-linked syndromic" EXACT [OMIMPS:309510] synonym: "mental retardation, X-linked syndromic" EXACT DEPRECATED [OMIMPS:309510] synonym: "syndromic intellectual disability, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "syndromic X-linked intellectual disability" EXACT [DOID:0060309, MONDO:0000738] synonym: "syndromic X-linked mental retardation" EXACT DEPRECATED [DOID:0060309] synonym: "X-linked syndromic intellectual disability" EXACT [] xref: DOID:0060309 {source="MONDO:equivalentTo"} xref: OMIMPS:309510 {source="MONDO:equivalentTo", source="DOID:0060309"} xref: Orphanet:98464 {source="MONDO:equivalentObsolete"} is_a: MONDO:0000508 ! syndromic intellectual disability is_a: MONDO:0100284 {source="https://clinicalgenome.org/affiliation/40006/", source="https://github.com/monarch-initiative/mondo/issues/2670"} ! X-linked intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: exactMatch DOID:0060309 property_value: exactMatch https://omim.org/phenotypicSeries/PS309510 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:98464"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0020120 name: skeletal muscle disorder def: "A disease involving the skeletal muscle tissue." [MONDO:patterns/location_top] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98472"} synonym: "disease of skeletal muscle tissue" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of skeletal muscle tissue" EXACT [] synonym: "disorder of skeletal muscle tissue" EXACT [MONDO:patterns/location_top] synonym: "skeletal muscle tissue disease" EXACT [MONDO:patterns/location] synonym: "skeletal muscle tissue disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: MedDRA:10028641 {source="Orphanet:98472/e", source="Orphanet:98472"} xref: MESH:D009135 {source="MONDO:relatedTo", source="Orphanet:98472/e", source="Orphanet:98472"} xref: Orphanet:206634 {source="MONDO:mondoIsBroaderThanSource"} xref: Orphanet:98472 {source="MONDO:equivalentTo"} xref: SCTID:75047002 {source="MONDO:equivalentTo"} xref: UMLS:C1533847 {source="Orphanet:98472/e", source="MONDO:equivalentTo", source="Orphanet:98472"} is_a: MONDO:0003939 ! muscle tissue disorder property_value: closeMatch http://identifiers.org/meddra/10028641 property_value: exactMatch http://identifiers.org/snomedct/75047002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1533847 property_value: exactMatch Orphanet:98472 property_value: excluded_subClassOf MONDO:0019056 {source="Orphanet:98472"} property_value: narrowMatch Orphanet:206634 [Term] id: MONDO:0020121 name: muscular dystrophy def: "Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities." [https://rarediseases.info.nih.gov/diseases/7922/muscular-dystrophy] subset: disease_grouping subset: gard_rare {source="GARD:0007922"} subset: ordo_group_of_disorders {source="Orphanet:98473"} xref: DOID:9884 {source="MONDO:equivalentTo"} xref: ICD10CM:G71.0 {source="Orphanet:98473/e", source="Orphanet:98473/specific", source="MONDO:equivalentTo", source="Orphanet:98473", source="DOID:9884"} xref: ICD9:359.1 {source="DOID:9884"} xref: MedDRA:10028356 {source="Orphanet:98473/e", source="Orphanet:98473"} xref: MESH:D009136 {source="Orphanet:98473/e", source="MONDO:equivalentTo", source="Orphanet:98473", source="DOID:9884"} xref: NCIT:C84910 {source="MONDO:equivalentTo", source="DOID:9884"} xref: Orphanet:98473 {source="MONDO:equivalentTo"} xref: SCTID:73297009 {source="MONDO:equivalentTo", source="DOID:9884"} xref: UMLS:C0026850 {source="Orphanet:98473/e", source="NCIT:C84910", source="MONDO:equivalentTo", source="Orphanet:98473", source="DOID:9884"} is_a: EFO:0004145 {source="DOID:9884", source="NCIT:C84910"} ! myopathy is_a: EFO:1001902 {source="ISBN-13:978-1-259-64403-0"} ! neuromuscular disease is_a: MONDO:0700223 ! hereditary skeletal muscle disorder property_value: closeMatch http://identifiers.org/meddra/10028356 property_value: exactMatch DOID:9884 property_value: exactMatch http://identifiers.org/mesh/D009136 property_value: exactMatch http://identifiers.org/snomedct/73297009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026850 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G71.0 property_value: exactMatch NCIT:C84910 property_value: exactMatch Orphanet:98473 property_value: excluded_subClassOf MONDO:0100167 {source="https://orcid.org/0000-0002-0736-9199"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5658 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7922/muscular-dystrophy xsd:anyURI {source="GARD:0007922"} [Term] id: MONDO:0020122 name: acquired idiopathic inflammatory myopathy def: "An umbrella term for diseases which have chronic muscle inflammation and weakness of unknown etiology. The types of idiopathic inflammatory myopathy are further defined by either clinicopathologic criteria or by the presence of certain autoantibodies." [NCIT:C116796] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98482"} synonym: "idiopathic inflammatory myopathies" EXACT [NCIT:C116796] synonym: "idiopathic inflammatory myopathy, familial" RELATED [GARD:0009128] synonym: "idiopathic inflammatory myositis" EXACT [Orphanet:98482] synonym: "IIm" EXACT [NCIT:C116796] synonym: "IMM" EXACT ABBREVIATION [Orphanet:98482] xref: ICD9:359.79 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:98482 {source="MONDO:equivalentTo"} is_a: MONDO:0016105 {source="Orphanet:98482"} ! acquired skeletal muscle disease is_a: MONDO:0600023 {source="https://orcid.org/0000-0001-5208-3432"} ! idiopathic inflammatory myopathy is_a: MONDO:0700007 ! idiopathic disease property_value: exactMatch Orphanet:98482 [Term] id: MONDO:0020123 name: metabolic myopathy def: "A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction." [NCIT:C98985] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98486"} xref: ICD9:359.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10068836 {source="Orphanet:98486/e", source="Orphanet:98486"} xref: NCIT:C98985 {source="MONDO:equivalentTo"} xref: Orphanet:98486 {source="MONDO:equivalentTo"} xref: SCTID:26111005 {source="MONDO:equivalentTo"} xref: UMLS:C0270984 {source="Orphanet:98486/e", source="MONDO:equivalentTo", source="NCIT:C98985", source="Orphanet:98486"} is_a: EFO:0004145 {source="NCIT:C98985"} ! myopathy property_value: closeMatch http://identifiers.org/meddra/10068836 property_value: exactMatch http://identifiers.org/snomedct/26111005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270984 property_value: exactMatch NCIT:C98985 property_value: exactMatch Orphanet:98486 [Term] id: MONDO:0020124 name: neuromuscular junction disease def: "Conditions characterized by impaired transmission of impulses at the neuromuscular junction. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or acetylcholinesterase activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions." [MESH:D020511] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98491"} xref: DOID:439 {source="MONDO:equivalentTo"} xref: MESH:D020511 {source="DOID:439", source="MONDO:equivalentTo", source="Orphanet:98491", source="Orphanet:98491/e"} xref: Orphanet:98491 {source="MONDO:equivalentTo"} xref: Orphanet:98495 {source="MONDO:mondoIsBroaderThanSource"} xref: SCTID:128213006 {source="DOID:439", source="MONDO:equivalentTo"} xref: UMLS:C0751950 {source="DOID:439", source="MONDO:equivalentTo", source="Orphanet:98491", source="Orphanet:98491/e"} is_a: EFO:1001902 {source="DOID:439", source="MESH:D020511", source="Orphanet:98491"} ! neuromuscular disease is_a: MONDO:0021017 ! synaptopathy property_value: exactMatch DOID:439 property_value: exactMatch http://identifiers.org/mesh/D020511 property_value: exactMatch http://identifiers.org/snomedct/128213006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751950 property_value: exactMatch Orphanet:98491 property_value: narrowMatch Orphanet:98495 [Term] id: MONDO:0020125 name: acquired neuromuscular junction disease def: "An instance of neuromuscular junction disease that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98494"} synonym: "acquired neuromuscular junction disease" EXACT [MONDO:patterns/acquired] xref: Orphanet:98494 {source="MONDO:equivalentTo"} xref: UMLS:CN207015 {source="MONDO:equivalentTo"} is_a: MONDO:0020124 {source="MONDO:Redundant", source="Orphanet:98494"} ! neuromuscular junction disease intersection_of: MONDO:0020124 ! neuromuscular junction disease intersection_of: has_characteristic MONDO:0021141 ! acquired relationship: has_characteristic MONDO:0021141 ! acquired property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207015 property_value: exactMatch Orphanet:98494 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020127 name: hereditary peripheral neuropathy def: "An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual." [] subset: clingen subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98497"} synonym: "genetic peripheral neuropathy" EXACT [MONDO:patterns/genetic] xref: Orphanet:98497 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0003100 {source="MONDO:Redundant", source="Orphanet:98497"} ! peripheral neuropathy intersection_of: EFO:0003100 ! peripheral neuropathy intersection_of: has_characteristic MONDO:0021152 ! inherited relationship: has_characteristic MONDO:0021136 {source="MONDO:0020126"} ! rare property_value: exactMatch Orphanet:98497 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI [Term] id: MONDO:0020129 name: acquired motor neuron disease def: "An instance of motor neuron disease that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98506"} synonym: "acquired anterior horn cell disease" EXACT [Orphanet:98506] synonym: "acquired motor neuron disease" EXACT [MONDO:patterns/acquired] xref: Orphanet:98506 {source="MONDO:equivalentTo"} xref: UMLS:CN207019 {source="MONDO:equivalentTo"} is_a: EFO:0003782 {source="MONDO:Redundant", source="Orphanet:98506"} ! motor neuron disease intersection_of: EFO:0003782 ! motor neuron disease intersection_of: has_characteristic MONDO:0021141 ! acquired relationship: has_characteristic MONDO:0021141 ! acquired property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207019 property_value: exactMatch Orphanet:98506 [Term] id: MONDO:0020130 name: malformation of the cerebellar vermis comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98514"} xref: Orphanet:98514 {source="MONDO:equivalentTo"} is_a: MONDO:0015915 {source="Orphanet:98514"} ! cerebellar malformation property_value: exactMatch Orphanet:98514 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0020132 name: cranial nerve and nuclear aplasia comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98518"} xref: Orphanet:98518 {source="MONDO:equivalentTo"} is_a: MONDO:0020022 {source="Orphanet:98518/inferred", source="https://github.com/monarch-initiative/mondo-build/issues/58"} ! central nervous system malformation property_value: exactMatch Orphanet:98518 property_value: excluded_subClassOf MONDO:0015219 {source="Orphanet:98518"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0020133 name: posterior fossa malformation comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98519"} xref: Orphanet:98519 {source="MONDO:equivalentTo"} is_a: MONDO:0020022 {source="Orphanet:98519/inferred", source="https://github.com/monarch-initiative/mondo-build/issues/58"} ! central nervous system malformation property_value: exactMatch Orphanet:98519 property_value: excluded_subClassOf MONDO:0015219 {source="Orphanet:98519"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0020134 name: cystic malformation of the posterior fossa subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98520"} xref: ICD9:742.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:98520 {source="MONDO:equivalentObsolete"} xref: SCTID:35111000119109 {source="MONDO:equivalentTo"} is_a: MONDO:0017104 {source="Orphanet:98520"} ! central nervous system cystic malformation is_a: MONDO:0020133 {source="Orphanet:98520"} ! posterior fossa malformation property_value: exactMatch http://identifiers.org/snomedct/35111000119109 [Term] id: MONDO:0020135 name: pontocerebellar hypoplasia def: "Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern." [Orphanet:98523] subset: disease_grouping subset: gard_rare {source="GARD:0010977"} subset: ordo_group_of_disorders {source="Orphanet:98523"} synonym: "isolated pontocerebellar hypoplasia" NARROW [https://orcid.org/0000-0002-6601-2165] synonym: "nonsyndromic pontocerebellar hypoplasia" NARROW [https://orcid.org/0000-0002-6601-2165, Orphanet:98523] synonym: "PCH" EXACT ABBREVIATION [DOID:0060264, Orphanet:98523] synonym: "pontocerebellar hypoplasia" EXACT [MONDO:0000730] synonym: "pontoneocerebellar atrophy" EXACT [Orphanet:98523] synonym: "pontoneocerebllar hypoplasia" EXACT [Orphanet:98523] xref: DOID:0060264 {source="MONDO:equivalentTo"} xref: MESH:C580383 {source="DOID:0060264", source="MONDO:equivalentTo"} xref: OMIMPS:607596 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:98523 {source="MONDO:equivalentTo", source="GARD:0010977"} xref: SCTID:45163000 {source="DOID:0060264", source="MONDO:equivalentTo"} xref: UMLS:CN924922 {source="MONDO:equivalentTo"} is_a: MONDO:0957009 ! hereditary posterior fossa malformation property_value: exactMatch DOID:0060264 property_value: exactMatch http://identifiers.org/mesh/C580383 property_value: exactMatch http://identifiers.org/snomedct/45163000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN924922 property_value: exactMatch https://omim.org/phenotypicSeries/PS607596 property_value: exactMatch Orphanet:98523 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10977/pontocerebellar-hypoplasia xsd:anyURI {source="GARD:0010977"} [Term] id: MONDO:0020143 name: cerebral lipidosis with dementia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98544"} synonym: "cerebral lipidosis" EXACT [MONDO:0001107] xref: DOID:10742 {source="MONDO:equivalentTo"} xref: ICD9:330.1 {source="DOID:10742", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: Orphanet:98544 {source="MONDO:equivalentTo"} xref: SCTID:16517004 {source="DOID:10742", source="MONDO:equivalentTo"} xref: UMLS:C0007788 {source="DOID:10742", source="MONDO:equivalentTo"} is_a: EFO:0005774 {source="DOID:10742/inferred"} ! brain disease is_a: MONDO:0015547 ! hereditary dementia is_a: MONDO:0019245 ! lysosomal lipid storage disorder property_value: exactMatch DOID:10742 property_value: exactMatch http://identifiers.org/snomedct/16517004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007788 property_value: exactMatch Orphanet:98544 [Term] id: MONDO:0020144 name: cerebrovascular dementia comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98549"} synonym: "rare cerebrovascular dementia" RELATED [Orphanet:98549] xref: Orphanet:98549 {source="MONDO:equivalentTo"} is_a: MONDO:0001627 {source="MONDO:Redundant", source="Orphanet:98549"} ! dementia relationship: has_characteristic MONDO:0021136 {source="MONDO:0019515"} ! rare property_value: exactMatch Orphanet:98549 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0020145 name: developmental defect of the eye comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98553"} xref: Orphanet:98553 {source="MONDO:equivalentTo"} is_a: EFO:0003966 {source="Orphanet:98553"} ! eye disease is_a: MONDO:0019755 {source="Orphanet:98553"} ! developmental defect during embryogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015107"} ! rare property_value: exactMatch Orphanet:98553 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020146 name: major induction processes eye anomaly comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98554"} xref: Orphanet:98554 {source="MONDO:equivalentObsolete"} is_a: MONDO:0020145 {source="MONDO:Redundant", source="Orphanet:98554"} ! developmental defect of the eye property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020147 name: anophthalmia-microphthalmia syndrome comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98555"} xref: Orphanet:98555 {source="MONDO:equivalentTo"} xref: UMLS:CN120488 {source="MONDO:equivalentTo"} is_a: MONDO:0020146 {source="Orphanet:98555"} ! major induction processes eye anomaly property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN120488 property_value: exactMatch Orphanet:98555 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020148 name: syndromic aniridia def: "A aniridia that is part of a larger syndrome." [MONDO:patterns/syndromic] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98557"} synonym: "syndrome associated with aniridia" EXACT [MONDO:patterns/syndromic] synonym: "syndromic aniridia" EXACT [MONDO:patterns/syndromic] xref: Orphanet:98557 {source="MONDO:equivalentTo"} xref: UMLS:CN227798 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 ! syndromic disease is_a: MONDO:0011119 {source="Orphanet:77-adapted-by-cjm", source="Orphanet:98557/inferred", source="https://github.com/monarch-initiative/mondo-build/issues/49"} ! iridogoniodysgenesis is_a: MONDO:0019172 {source="MONDO:Redundant", source="Orphanet:98557"} ! aniridia intersection_of: MONDO:0019172 ! aniridia intersection_of: has_characteristic MONDO:0021127 ! has a syndromic presentation property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227798 property_value: exactMatch Orphanet:98557 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020149 name: obsolete rare eye disease due to a differentiation anomaly subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98558"} xref: Orphanet:98558 {source="MONDO:obsoleteEquivalentObsolete"} xref: UMLS:CN207024 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207024 property_value: exactMatch Orphanet:98558 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true [Term] id: MONDO:0020152 name: obsolete rare eyelid malformation subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98561"} synonym: "eyelid malformation" RELATED [Orphanet:98561] xref: Orphanet:98561 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch Orphanet:98561 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true [Term] id: MONDO:0020153 name: cryptophthalmia def: "A congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure." [NCIT:C124520] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98562"} synonym: "cryptophthalmos" EXACT [NCIT:C124520] xref: DOID:0111716 {source="MONDO:equivalentTo"} xref: ICD9:743.06 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C124520 {source="MONDO:equivalentTo"} xref: Orphanet:98562 {source="MONDO:equivalentTo"} xref: SCTID:400951005 {source="MONDO:equivalentTo"} is_a: EFO:0009547 {source="MONDO:0020152-obsoleted"} ! eyelid disease property_value: exactMatch DOID:0111716 property_value: exactMatch http://identifiers.org/snomedct/400951005 property_value: exactMatch NCIT:C124520 property_value: exactMatch Orphanet:98562 [Term] id: MONDO:0020154 name: microblepharon-ablephara syndrome comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98563"} xref: Orphanet:98563 {source="MONDO:equivalentTo"} xref: UMLS:CN237783 {source="MONDO:equivalentTo"} is_a: EFO:0009547 {source="MONDO:0020152-obsoleted"} ! eyelid disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237783 property_value: exactMatch Orphanet:98563 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0020155 name: eyelid border anomaly comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98564"} xref: Orphanet:98564 {source="MONDO:equivalentTo"} is_a: EFO:0009547 {source="MONDO:0020152-obsoleted"} ! eyelid disease property_value: exactMatch Orphanet:98564 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020156 name: syndromic ankyloblepharon comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98565"} xref: Orphanet:98565 {source="MONDO:equivalentTo"} xref: UMLS:CN227801 {source="MONDO:equivalentTo"} is_a: MONDO:0020155 {source="Orphanet:98565"} ! eyelid border anomaly property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227801 property_value: exactMatch Orphanet:98565 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020157 name: syndromic palpebral coloboma comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98566"} xref: Orphanet:98566 {source="MONDO:equivalentTo"} xref: UMLS:CN227802 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 ! syndromic disease is_a: MONDO:0020155 {source="Orphanet:98566"} ! eyelid border anomaly property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227802 property_value: exactMatch Orphanet:98566 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020158 name: eyelids malposition disorder comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98567"} xref: Orphanet:98567 {source="MONDO:equivalentTo"} xref: UMLS:CN227803 {source="MONDO:equivalentTo"} is_a: EFO:0009547 {source="Orphanet:98567"} ! eyelid disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0020151"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227803 property_value: exactMatch Orphanet:98567 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0020159 name: congenital entropion subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98568"} xref: MedDRA:10014923 {source="Orphanet:98568", source="Orphanet:98568/e"} xref: Orphanet:98568 {source="MONDO:equivalentObsolete"} xref: SCTID:20392000 {source="MONDO:equivalentTo"} is_a: MONDO:0001519 {source="MONDO:cjm"} ! entropion is_a: MONDO:0020158 {source="Orphanet:98568"} ! eyelids malposition disorder relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: closeMatch http://identifiers.org/meddra/10014923 property_value: exactMatch http://identifiers.org/snomedct/20392000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0020160 name: secondary entropion comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98569"} xref: Orphanet:98569 {source="MONDO:equivalentObsolete"} is_a: MONDO:0020159 {source="Orphanet:98569"} ! congenital entropion property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0020161 name: congenital ectropion subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98570"} xref: ICD10CM:Q10.1 {source="Orphanet:98570/e", source="Orphanet:98570/specific", source="MONDO:equivalentTo", source="Orphanet:98570"} xref: Orphanet:98570 {source="MONDO:equivalentTo"} xref: SCTID:26590002 {source="MONDO:equivalentTo"} is_a: MONDO:0002043 {source="MONDO:cjm"} ! ectropion is_a: MONDO:0020158 {source="Orphanet:98570"} ! eyelids malposition disorder relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch http://identifiers.org/snomedct/26590002 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q10.1 property_value: exactMatch Orphanet:98570 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0020162 name: secondary ectropion comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98571"} xref: Orphanet:98571 {source="MONDO:equivalentTo"} is_a: MONDO:0020158 {source="Orphanet:98571"} ! eyelids malposition disorder property_value: exactMatch Orphanet:98571 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020163 name: canthal anomaly comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98572"} xref: Orphanet:98572 {source="MONDO:equivalentObsolete"} is_a: EFO:0009547 {source="Orphanet:98572"} ! eyelid disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0020151"} ! rare property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020164 name: epicanthal fold comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98573"} xref: Orphanet:98573 {source="MONDO:equivalentObsolete"} is_a: MONDO:0020163 {source="MONDO:Redundant", source="Orphanet:98573"} ! canthal anomaly property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020165 name: syndromic epicanthus comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98574"} xref: Orphanet:98574 {source="MONDO:equivalentTo"} xref: UMLS:CN227805 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 ! syndromic disease is_a: MONDO:0020164 {source="Orphanet:98574"} ! epicanthal fold property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227805 property_value: exactMatch Orphanet:98574 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020167 name: malposition of external canthus comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98576"} xref: Orphanet:98576 {source="MONDO:equivalentTo"} is_a: MONDO:0020163 {source="Orphanet:98576"} ! canthal anomaly property_value: exactMatch Orphanet:98576 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020172 name: palpebral epidermal tumor def: "A neoplasm (disease) that involves the skin of eyelid." [MONDO:patterns/location] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98581"} synonym: "neoplasm of skin of eyelid" EXACT [MONDO:patterns/neoplasm] synonym: "skin of eyelid neoplasm" EXACT [] synonym: "skin of eyelid neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "skin of eyelid tumor" EXACT [MONDO:patterns/neoplasm] synonym: "skin of eyelid tumour" EXACT OMO:0003005 [] synonym: "tumor of skin of eyelid" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of skin of eyelid" EXACT OMO:0003005 [] xref: Orphanet:98581 {source="MONDO:equivalentObsolete"} xref: SCTID:126499002 {source="MONDO:equivalentTo"} xref: UMLS:CN207033 {source="MONDO:equivalentTo"} is_a: EFO:1000934 {source="MONDO:Redundant", source="Orphanet:98581"} ! eyelid neoplasm property_value: exactMatch http://identifiers.org/snomedct/126499002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207033 [Term] id: MONDO:0020173 name: benign tumor of palpebral epidermis def: "A benign neoplasm that involves the skin of eyelid." [MONDO:patterns/location] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98582"} synonym: "skin of eyelid benign neoplasm" EXACT [MONDO:patterns/location] xref: Orphanet:98582 {source="MONDO:equivalentObsolete"} xref: UMLS:CN207034 {source="MONDO:equivalentTo"} is_a: MONDO:0020172 {source="MONDO:Redundant", source="Orphanet:98582"} ! palpebral epidermal tumor is_a: MONDO:0021605 ! benign eyelid neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207034 [Term] id: MONDO:0020174 name: precancerous lesion of palpebral epidermis def: "A precancerous condition that involves the skin of eyelid." [MONDO:patterns/location] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98583"} synonym: "skin of eyelid precancerous condition" EXACT [MONDO:patterns/location] xref: Orphanet:98583 {source="MONDO:equivalentObsolete"} is_a: MONDO:0020172 {source="Orphanet:98583"} ! palpebral epidermal tumor is_a: MONDO:0021074 ! precancerous condition property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0020175 name: malignant tumor of palpebral epidermis def: "A cancer that involves the skin of eyelid." [MONDO:patterns/location] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98584"} synonym: "cancer of skin of eyelid" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of skin of eyelid" EXACT [MONDO:patterns/cancer] synonym: "malignant skin of eyelid neoplasm" EXACT [MONDO:patterns/cancer] synonym: "skin of eyelid cancer" EXACT [MONDO:patterns/location] xref: Orphanet:98584 {source="MONDO:equivalentObsolete"} xref: SCTID:423425006 {source="MONDO:equivalentTo"} xref: UMLS:CN207035 {source="MONDO:equivalentTo"} is_a: MONDO:0020172 {source="MONDO:Redundant", source="Orphanet:98584"} ! palpebral epidermal tumor is_a: MONDO:0021313 ! eyelid cancer property_value: exactMatch http://identifiers.org/snomedct/423425006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207035 [Term] id: MONDO:0020176 name: palpebral sebaceous gland tumor def: "A neoplasm (disease) that involves the sebaceous gland of eyelid." [MONDO:patterns/location] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98585"} synonym: "neoplasm of sebaceous gland of eyelid" EXACT [MONDO:patterns/neoplasm] synonym: "sebaceous gland of eyelid neoplasm" EXACT [] synonym: "sebaceous gland of eyelid neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "sebaceous gland of eyelid tumor" EXACT [MONDO:patterns/neoplasm] synonym: "sebaceous gland of eyelid tumour" EXACT OMO:0003005 [] synonym: "tumor of sebaceous gland of eyelid" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of sebaceous gland of eyelid" EXACT OMO:0003005 [] xref: Orphanet:98585 {source="MONDO:equivalentObsolete"} xref: UMLS:CN207036 {source="MONDO:equivalentTo"} is_a: EFO:1000934 {source="MONDO:Redundant", source="Orphanet:98585"} ! eyelid neoplasm is_a: EFO:1001172 ! sebaceous gland neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207036 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020177 name: pigmented palpebral tumor comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98586"} synonym: "pigmented eyelid tumor" EXACT [MONDO:patterns/location] synonym: "pigmented eyelid tumour" EXACT OMO:0003005 [] synonym: "pigmented palpebral neoplasm" EXACT [MONDO:patterns/location] xref: Orphanet:98586 {source="MONDO:equivalentObsolete"} xref: UMLS:CN207037 {source="MONDO:equivalentTo"} is_a: EFO:1000934 {source="Orphanet:98586"} ! eyelid neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207037 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020178 name: palpebral lentiginosis def: "A lentigo that involves the skin of eyelid." [MONDO:patterns/location] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98587"} synonym: "skin of eyelid lentigo" EXACT [MONDO:patterns/location] xref: Orphanet:98587 {source="MONDO:equivalentObsolete"} is_a: MONDO:0015950 ! inherited skin tumor is_a: MONDO:0020172 ! palpebral epidermal tumor is_a: MONDO:0020177 {source="Orphanet:98587"} ! pigmented palpebral tumor is_a: MONDO:0021582 ! lentigo property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0020179 name: palpebral nevus def: "A melanocytic nevus that involves the skin of eyelid." [MONDO:patterns/location] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98588"} synonym: "eyelid nevus" EXACT [NCIT:C3880] synonym: "melanocytic nevus of skin of eyelid" EXACT [MONDO:design_pattern] synonym: "nevus of eyelid" EXACT [NCIT:C3880] synonym: "nevus of the eyelid" EXACT [NCIT:C3880] synonym: "skin of eyelid melanocytic nevus" EXACT [MONDO:patterns/location] xref: NCIT:C3880 {source="MONDO:equivalentTo"} xref: Orphanet:98588 {source="MONDO:equivalentObsolete"} xref: SCTID:231827008 {source="MONDO:equivalentTo"} xref: UMLS:C0239460 {source="Orphanet:98588", source="NCIT:C3880", source="MONDO:equivalentTo", source="Orphanet:98588/e"} is_a: EFO:0009675 {source="MONDO:Redundant", source="NCIT:C3880"} ! melanocytic nevus is_a: MONDO:0020173 ! benign tumor of palpebral epidermis is_a: MONDO:0020177 {source="Orphanet:98588"} ! pigmented palpebral tumor property_value: exactMatch http://identifiers.org/snomedct/231827008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0239460 property_value: exactMatch NCIT:C3880 [Term] id: MONDO:0020180 name: palpebral piliary tumor comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98590"} xref: Orphanet:98590 {source="MONDO:equivalentObsolete"} xref: UMLS:CN207040 {source="MONDO:equivalentTo"} is_a: EFO:1000934 {source="Orphanet:98590"} ! eyelid neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207040 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020181 name: mesenchymatous palpebral tumor comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98591"} xref: Orphanet:98591 {source="MONDO:equivalentObsolete"} xref: UMLS:CN207041 {source="MONDO:equivalentTo"} is_a: EFO:1000934 {source="Orphanet:98591"} ! eyelid neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207041 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020183 name: neurogenic palpebral tumor subset: ordo_disease {source="Orphanet:98593"} xref: Orphanet:98593 {source="MONDO:equivalentObsolete"} xref: UMLS:CN207043 {source="MONDO:equivalentTo"} is_a: EFO:1000934 {source="Orphanet:98593"} ! eyelid neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207043 [Term] id: MONDO:0020193 name: secretory apparatus of the lacrimal system anomaly comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98603"} synonym: "disease of lacrimal gland" BROAD [MONDO:patterns/location_top] synonym: "disorder of lacrimal gland" BROAD [MONDO:patterns/location_top] synonym: "lacrimal gland disease" BROAD [MONDO:patterns/location] xref: Orphanet:98603 {source="MONDO:equivalentObsolete"} is_a: EFO:0009455 {source="Orphanet:98603"} ! lacrimal apparatus disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0020192"} ! rare property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020194 name: congenital alacrima comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98604"} xref: Orphanet:98604 {source="MONDO:equivalentTo"} is_a: MONDO:0020193 {source="Orphanet:98604"} ! secretory apparatus of the lacrimal system anomaly relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch Orphanet:98604 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0020195 name: excretory apparatus of the lacrimal system anomaly comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98605"} xref: Orphanet:98605 {source="MONDO:equivalentTo"} is_a: EFO:0009455 {source="Orphanet:98605"} ! lacrimal apparatus disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0020192"} ! rare property_value: exactMatch Orphanet:98605 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020196 name: anomaly of the secretory and excretory apparatus of the lacrimal system comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98608"} xref: Orphanet:98608 {source="MONDO:equivalentObsolete"} is_a: EFO:0009455 {source="Orphanet:98608"} ! lacrimal apparatus disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0020192"} ! rare property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020197 name: EEC syndrome and related syndrome comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98609"} synonym: "ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and related disorders" EXACT [Orphanet:98609] xref: Orphanet:98609 {source="MONDO:equivalentTo"} xref: UMLS:CN207046 {source="MONDO:equivalentTo"} is_a: MONDO:0019287 {source="Orphanet:98609"} ! ectodermal dysplasia syndrome is_a: MONDO:0020196 {source="Orphanet:98609"} ! anomaly of the secretory and excretory apparatus of the lacrimal system property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207046 property_value: exactMatch Orphanet:98609 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0020203 name: pigmented conjunctival lesion comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98615"} xref: Orphanet:98615 {source="MONDO:equivalentObsolete"} is_a: EFO:1000203 {source="Orphanet:98615"} ! Conjunctival Disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0020198"} ! rare property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0020204 name: conjunctival tumor def: "A benign or malignant neoplasm that affects the conjunctiva. Representative examples include papilloma, squamous cell carcinoma, and melanoma." [NCIT:C2961] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98616"} synonym: "conjunctiva neoplasm" EXACT [NCIT:C2961] synonym: "conjunctiva neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "conjunctiva tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2961] synonym: "conjunctiva tumour" EXACT OMO:0003005 [] synonym: "conjunctival neoplasm" EXACT [NCIT:C2961] synonym: "conjunctival neoplasms" EXACT [NCIT:C2961] synonym: "conjunctival tumor" EXACT [NCIT:C2961] synonym: "neoplasm of conjunctiva" EXACT [MONDO:patterns/neoplasm, NCIT:C2961] synonym: "neoplasm of the conjunctiva" EXACT [NCIT:C2961] synonym: "tumor of conjunctiva" EXACT [MONDO:patterns/neoplasm, NCIT:C2961] synonym: "tumor of the conjunctiva" EXACT [NCIT:C2961] synonym: "tumour of conjunctiva" EXACT OMO:0003005 [] synonym: "tumour of the conjunctiva" EXACT OMO:0003005 [] xref: NCIT:C2961 {source="MONDO:equivalentTo"} xref: Orphanet:98616 {source="MONDO:equivalentObsolete"} is_a: EFO:0003824 {source="MONDO:Redundant", source="NCIT:C2961"} ! eye neoplasm is_a: EFO:1000203 {source="NCIT:C2961"} ! Conjunctival Disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0020198"} ! rare property_value: exactMatch NCIT:C2961 [Term] id: MONDO:0020205 name: bulbar conjunctival dermoid or conjunctival dermolipoma comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98617"} xref: Orphanet:98617 {source="MONDO:equivalentObsolete"} is_a: MONDO:0020204 {source="Orphanet:98617"} ! conjunctival tumor property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020208 name: obsolete syndromic myopia def: "OBSOLETE. A myopia (disease) that is part of a larger syndrome." [MONDO:patterns/syndromic] subset: ordo_group_of_disorders {source="Orphanet:98620"} synonym: "syndrome associated with myopia (disease)" EXACT [MONDO:patterns/syndromic] synonym: "syndromic myopia (disease)" EXACT [MONDO:patterns/syndromic] xref: Orphanet:98620 {source="MONDO:obsoleteEquivalentObsolete"} xref: UMLS:CN227818 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227818 property_value: exactMatch Orphanet:98620 property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI is_obsolete: true consider: MONDO:0001384 [Term] id: MONDO:0020209 name: obsolete rare hyperopia and astigmatism subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98621"} xref: Orphanet:98621 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227819 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227819 property_value: exactMatch Orphanet:98621 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true [Term] id: MONDO:0020210 name: syndromic hyperopia def: "A hyperopia that is part of a larger syndrome." [MONDO:patterns/syndromic] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98622"} synonym: "syndrome associated with hyperopia" EXACT [MONDO:patterns/syndromic] synonym: "syndromic hyperopia" EXACT [MONDO:patterns/syndromic] xref: Orphanet:98622 {source="MONDO:equivalentTo"} xref: UMLS:CN227820 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 ! syndromic disease is_a: MONDO:0004891 ! hyperopia intersection_of: MONDO:0004891 ! hyperopia intersection_of: has_characteristic MONDO:0021127 ! has a syndromic presentation property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227820 property_value: exactMatch Orphanet:98622 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020211 name: syndromic keratoconus def: "A keratoconus (disease) that is part of a larger syndrome." [MONDO:patterns/syndromic] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98623"} synonym: "syndrome associated with keratoconus (disease)" EXACT [MONDO:patterns/syndromic] synonym: "syndromic keratoconus (disease)" EXACT [MONDO:patterns/syndromic] xref: Orphanet:98623 {source="MONDO:equivalentTo"} xref: UMLS:CN227821 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 ! syndromic disease is_a: MONDO:0015486 {source="MONDO:Redundant", source="Orphanet:98623"} ! keratoconus intersection_of: MONDO:0015486 ! keratoconus intersection_of: has_characteristic MONDO:0021127 ! has a syndromic presentation property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227821 property_value: exactMatch Orphanet:98623 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020212 name: superficial corneal dystrophy def: "The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy." [Orphanet:98625] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98625"} synonym: "anterior corneal dystrophy" EXACT [Orphanet:98625] synonym: "corneal epithelium corneal dystrophy (disease)" EXACT [MONDO:patterns/location] synonym: "dystrophy of anterior cornea" EXACT [] xref: ICD9:371.52 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:98625 {source="MONDO:equivalentTo"} xref: SCTID:430888006 {source="MONDO:equivalentTo"} xref: UMLS:C2315777 {source="MONDO:equivalentTo", source="Orphanet:98625", source="Orphanet:98625/e"} is_a: MONDO:0018102 {source="MONDO:Entailed", source="Orphanet:98625"} ! corneal dystrophy property_value: exactMatch http://identifiers.org/snomedct/430888006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2315777 property_value: exactMatch Orphanet:98625 [Term] id: MONDO:0020213 name: stromal corneal dystrophy def: "The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy." [Orphanet:98626] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98626"} synonym: "corneal dystrophy (disease) of substantia propria of cornea" EXACT [] synonym: "corneal stromal dystrophy" EXACT [MONDO:0000765] synonym: "stromal dystrophy" RELATED [DOID:0060442] synonym: "substantia propria of cornea corneal dystrophy (disease)" EXACT [MONDO:patterns/location] xref: DOID:0060442 {source="MONDO:equivalentTo"} xref: ICD9:371.56 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:98626 {source="MONDO:equivalentTo"} xref: SCTID:231931001 {source="MONDO:equivalentTo"} xref: UMLS:C0038457 {source="MONDO:equivalentTo", source="Orphanet:98626", source="Orphanet:98626/e"} is_a: MONDO:0018102 {source="DOID:0060442", source="MONDO:Redundant", source="Orphanet:98626"} ! corneal dystrophy property_value: exactMatch DOID:0060442 property_value: exactMatch http://identifiers.org/snomedct/231931001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038457 property_value: exactMatch Orphanet:98626 [Term] id: MONDO:0020214 name: posterior corneal dystrophy def: "Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy." [Orphanet:98627] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98627"} xref: ICD9:371.58 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:98627 {source="MONDO:equivalentTo"} xref: SCTID:35091000119101 {source="MONDO:equivalentTo"} xref: UMLS:C2063478 {source="MONDO:equivalentTo"} xref: UMLS:CN227822 {source="MONDO:equivalentTo"} is_a: MONDO:0018102 {source="Orphanet:98627"} ! corneal dystrophy property_value: exactMatch http://identifiers.org/snomedct/35091000119101 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2063478 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227822 property_value: exactMatch Orphanet:98627 [Term] id: MONDO:0020215 name: syndromic corneal dystrophy def: "A corneal dystrophy (disease) that is part of a larger syndrome." [MONDO:patterns/syndromic] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98628"} synonym: "syndrome associated with corneal dystrophy (disease)" EXACT [MONDO:patterns/syndromic] synonym: "syndromic corneal dystrophy (disease)" EXACT [MONDO:patterns/syndromic] xref: Orphanet:98628 {source="MONDO:equivalentTo"} xref: UMLS:CN227823 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 ! syndromic disease is_a: MONDO:0018102 {source="MONDO:Redundant", source="Orphanet:98628"} ! corneal dystrophy intersection_of: MONDO:0018102 ! corneal dystrophy intersection_of: has_characteristic MONDO:0021127 ! has a syndromic presentation property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227823 property_value: exactMatch Orphanet:98628 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020216 name: secondary dysgenetic glaucoma def: "A hereditary disease that is associated with congenital ocular anomalies such as conditions associated with mesodermal dysgenesis of the neural crest, phakomatoses characterized by hamartomas, metabolic disorders, mitotic disorders, and other congenital disorders and associated with acquired conditions such as tumors, uveitis, and trauma." [http://dx.doi.org/10.1155/2015/781294] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98631"} synonym: "secondary congenital glaucoma" RELATED [http://dx.doi.org/10.1155/2015/781294] xref: Orphanet:98631 {source="MONDO:equivalentTo"} is_a: MONDO:0018174 {source="Orphanet:98631"} ! hereditary glaucoma property_value: exactMatch Orphanet:98631 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020218 name: obsolete goniodysgenesis comment: Reason: out of scope. Obsoleted in Orphanet. Term to consider: None subset: ordo_group_of_disorders {source="Orphanet:98633"} xref: Orphanet:98633 {source="MONDO:obsoleteEquivalentObsolete"} xref: SCTID:251730004 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://identifiers.org/snomedct/251730004 property_value: exactMatch Orphanet:98633 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4397 xsd:anyURI is_obsolete: true [Term] id: MONDO:0020219 name: corneogoniodysgenesis comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98635"} xref: Orphanet:98635 {source="MONDO:equivalentTo"} is_a: EFO:0009464 {source="Orphanet:98635"} ! corneal disease property_value: exactMatch Orphanet:98635 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0020220 name: obsolete corneoiridogoniodysgenesis comment: Reason: out of scope. Obsoleted in Orphanet. Term to consider: None subset: ordo_group_of_disorders {source="Orphanet:98636"} xref: Orphanet:98636 {source="MONDO:obsoleteEquivalentObsolete"} property_value: exactMatch Orphanet:98636 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4396 xsd:anyURI is_obsolete: true [Term] id: MONDO:0020222 name: obsolete rare disease with glaucoma as a major feature subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98638"} xref: Orphanet:98638 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN207054 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207054 property_value: exactMatch Orphanet:98638 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI is_obsolete: true [Term] id: MONDO:0020223 name: obsolete lens and zonula anomaly subset: disease_grouping subset: implicit_genetic_in_ordo subset: ordo_group_of_disorders {source="Orphanet:98639"} xref: Orphanet:98639 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch Orphanet:98639 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true [Term] id: MONDO:0020225 name: obsolete syndromic cataract def: "OBSOLETE. A cataract (disease) that is part of a larger syndrome." [MONDO:patterns/syndromic] subset: ordo_group_of_disorders {source="Orphanet:98641"} synonym: "syndrome associated with cataract (disease)" EXACT [MONDO:patterns/syndromic] synonym: "syndromic cataract (disease)" EXACT [MONDO:patterns/syndromic] xref: Orphanet:98641 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227829 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227829 property_value: exactMatch Orphanet:98641 property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI is_obsolete: true consider: MONDO:0005129 [Term] id: MONDO:0020235 name: lens size anomaly comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98652"} xref: Orphanet:98652 {source="MONDO:equivalentTo"} is_a: EFO:0003966 {source="MONDO:0020223-obsoleted"} ! eye disease property_value: exactMatch Orphanet:98652 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020236 name: obsolete lens position anomaly def: "OBSOLETE. Partial or complete displacement of the crystalline lens from its normal position in the eye." [NCIT:C125484] subset: ordo_group_of_disorders {source="Orphanet:98653"} synonym: "ectopia lentis" EXACT [NCIT:C125484] xref: HP:0001083 xref: NCIT:C125484 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98653 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch NCIT:C125484 property_value: exactMatch Orphanet:98653 property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4698 xsd:anyURI is_obsolete: true consider: HP:0001083 [Term] id: MONDO:0020237 name: lens shape anomaly comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98655"} xref: Orphanet:98655 {source="MONDO:equivalentTo"} is_a: EFO:0003966 {source="MONDO:0020223-obsoleted"} ! eye disease property_value: exactMatch Orphanet:98655 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020238 name: inherited vitreous-retinal disease comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98657"} synonym: "genetic vitreoretinal disease" EXACT [MONDO:cjm] synonym: "genetic vitreous-retinal disease" EXACT [Orphanet:98657] xref: Orphanet:98657 {source="MONDO:equivalentObsolete"} xref: UMLS:CN207063 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0003839 ! retinopathy is_a: EFO:0008624 ! vitreous body disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015107"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207063 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0020240 name: syndromic retinitis pigmentosa def: "A retinitis pigmentosa that is part of a larger syndrome." [MONDO:patterns/syndromic] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98661"} synonym: "syndrome associated with retinitis pigmentosa" EXACT [MONDO:patterns/syndromic] synonym: "syndromic retinitis pigmentosa" EXACT [MONDO:patterns/syndromic] xref: Orphanet:98661 {source="MONDO:equivalentTo"} xref: UMLS:CN227834 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 ! syndromic disease is_a: MONDO:0019200 ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa intersection_of: has_characteristic MONDO:0021127 ! has a syndromic presentation property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227834 property_value: exactMatch Orphanet:98661 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020242 name: hereditary macular dystrophy def: "Macular dystrophy that is related to a change in a gene." [NCIT:C140264] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98664"} synonym: "genetic macular dystrophy" EXACT [] synonym: "genetic macular dystrophy (disease)" EXACT [MONDO:patterns/genetic] xref: ICD10CM:H35.5 {source="Orphanet:98664", source="Orphanet:98664/attributed", source="Orphanet:98664/ntbt", source="MONDO:directSiblingOf"} xref: NCIT:C140264 {source="MONDO:equivalentTo"} xref: Orphanet:98664 {source="MONDO:equivalentObsolete"} xref: SCTID:276436007 {source="MONDO:equivalentTo"} is_a: MONDO:0019118 {source="MONDO:Redundant", source="NCIT:C140264", source="Orphanet:98664"} ! inherited retinal dystrophy property_value: exactMatch http://identifiers.org/snomedct/276436007 property_value: exactMatch NCIT:C140264 [Term] id: MONDO:0020245 name: obsolete disease predisposing to age-related macular degeneration subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98667"} xref: Orphanet:98667 {source="MONDO:obsoleteEquivalentObsolete"} xref: UMLS:CN207066 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207066 property_value: exactMatch Orphanet:98667 property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeObsoleteSource"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6115 xsd:anyURI is_obsolete: true consider: MONDO:0020238 [Term] id: MONDO:0020246 name: inherited vitreoretinopathy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98668"} xref: HP:0007773 xref: Orphanet:98668 {source="MONDO:equivalentTo"} xref: UMLS:C1850109 {source="MONDO:equivalentTo"} is_a: MONDO:0020238 {source="Orphanet:98668"} ! inherited vitreous-retinal disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850109 property_value: exactMatch Orphanet:98668 [Term] id: MONDO:0020247 name: congenital vitreoretinal dysplasia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98669"} synonym: "vitreoretinal dysplasia" EXACT [] xref: ICD9:743.56 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:98669 {source="MONDO:equivalentObsolete"} xref: SCTID:449866003 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0020246 {source="Orphanet:98669"} ! inherited vitreoretinopathy property_value: exactMatch http://identifiers.org/snomedct/449866003 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4407 xsd:anyURI [Term] id: MONDO:0020248 name: vitreoretinal degeneration subset: disease_grouping subset: gard_rare {source="GARD:0005506"} subset: ordo_group_of_disorders {source="Orphanet:98670"} synonym: "degenerative vitreoretinopathy" EXACT [HP:0007964] xref: HP:0007964 xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:98670/inclusion", source="Orphanet:98670/ntbt", source="Orphanet:98670"} xref: Orphanet:98670 {source="MONDO:equivalentObsolete"} xref: SCTID:247182006 {source="MONDO:equivalentTo"} xref: UMLS:C0344290 {source="Orphanet:98670/e", source="MONDO:equivalentTo", source="Orphanet:98670"} is_a: MONDO:0001377 ! vitreous syneresis is_a: MONDO:0020246 {source="Orphanet:98670"} ! inherited vitreoretinopathy is_a: MONDO:0024237 ! inherited neurodegenerative disorder property_value: exactMatch http://identifiers.org/snomedct/247182006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0344290 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4407 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5506/vitreoretinal-degeneration xsd:anyURI {source="GARD:0005506"} [Term] id: MONDO:0020249 name: hereditary optic neuropathy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98671"} xref: MedDRA:10061323 {source="Orphanet:98671/e", source="Orphanet:98671"} xref: Orphanet:98671 {source="MONDO:equivalentTo"} is_a: EFO:0003966 {source="Orphanet:98671"} ! eye disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015107"} ! rare property_value: closeMatch http://identifiers.org/meddra/10061323 property_value: exactMatch Orphanet:98671 [Term] id: MONDO:0020250 name: autosomal dominant optic atrophy def: "An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss." [NCIT:C84577] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98672"} synonym: "ADOA" EXACT ABBREVIATION [Orphanet:98672] synonym: "DOA" EXACT ABBREVIATION [Orphanet:98672] synonym: "dominant optic atrophy" RELATED [GARD:0011972] synonym: "optic atrophy, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: MESH:D029241 {source="Orphanet:98672/e", source="MONDO:equivalentTo", source="Orphanet:98672"} xref: NCIT:C84577 {source="MONDO:equivalentTo"} xref: Orphanet:98672 {source="MONDO:equivalentTo"} xref: SCTID:2065009 {source="MONDO:equivalentTo"} xref: UMLS:C0338508 {source="Orphanet:98672/e", source="MONDO:equivalentTo", source="NCIT:C84577", source="Orphanet:98672"} is_a: MONDO:0000426 {source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0004884 ! eye degenerative disorder is_a: MONDO:0020249 {source="MESH:D029241/inferred", source="MONDO:Entailed", source="NCIT:C84577/inferred", source="Orphanet:98672", source="Orphanet:98672/inferred"} ! hereditary optic neuropathy is_a: MONDO:0043878 {source="MESH:D029241", source="MONDO:Redundant", source="NCIT:C84577"} ! hereditary optic atrophy property_value: exactMatch http://identifiers.org/mesh/D029241 property_value: exactMatch http://identifiers.org/snomedct/2065009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0338508 property_value: exactMatch NCIT:C84577 property_value: exactMatch Orphanet:98672 [Term] id: MONDO:0020251 name: obsolete rare strabismus and restriction syndrome subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98681"} xref: Orphanet:98681 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN207070 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207070 property_value: exactMatch Orphanet:98681 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true [Term] id: MONDO:0020252 name: essential strabismus subset: ordo_disease {source="Orphanet:98682"} xref: Orphanet:98682 {source="MONDO:equivalentObsolete"} is_a: MONDO:0015368 {source="MONDO:0020251-obsoleted"} ! neuro-ophthalmological disease [Term] id: MONDO:0020256 name: congenital trochlear nerve palsy comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: obsoletion_candidate subset: ordo_disease {source="Orphanet:98686"} synonym: "congenital CNIV palsy" EXACT [Orphanet:98686] synonym: "congenital fourth cranial nerve palsy" EXACT [Orphanet:98686] synonym: "congenital superior oblique palsy" EXACT [Orphanet:98686] xref: Orphanet:98686 {source="MONDO:equivalentTo"} is_a: MONDO:0001146 {source="MONDO:cjm"} ! fourth cranial nerve palsy property_value: exactMatch Orphanet:98686 property_value: excluded_subClassOf MONDO:0015083 {source="Orphanet:98686"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0020257 name: supranuclear oculomotor palsy def: "Oculomotor palsy that arises from lesions in the supranuclear pathways controlling extraocular movement." [https://doi.org/10.1111/j.1468-1331.2009.02779.x, MONDO:cjm] comment: Editor note: TODO review literature. Consider relationship to ocular nerve, supranuclear pathway includes other nerves subset: disease_grouping subset: gard_rare subset: ordo_group_of_disorders {source="Orphanet:98687"} synonym: "conjugate gaze palsy" RELATED [GARD:0008403] synonym: "gaze palsy" RELATED [GARD:0008403] synonym: "supranuclear disorder of eye movement" RELATED [PMID:2669857] synonym: "supranuclear eye movement disorder" EXACT [Orphanet:98687] synonym: "supranuclear ocular palsy" RELATED [GARD:0008403] xref: Orphanet:98687 {source="MONDO:equivalentTo"} is_a: MONDO:0001309 {source="Orphanet:98687"} ! oculomotor nerve paralysis property_value: exactMatch Orphanet:98687 [Term] id: MONDO:0020258 name: obsolete oculomotor apraxia or related oculomotor disease xref: Orphanet:98688 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN207073 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207073 property_value: exactMatch Orphanet:98688 property_value: IAO:0000231 IAO:0000423 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/834 xsd:anyURI is_obsolete: true consider: HP:0000657 [Term] id: MONDO:0020275 name: oculocutaneous or ocular albinism def: "Albinism that affects the eyes, including ocular albinism and oculocutaneous albinism." [MONDO:cjm, Wikipedia:Albinism] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98706"} xref: Orphanet:98706 {source="MONDO:equivalentTo"} is_a: EFO:0003966 ! eye disease is_a: MONDO:0043209 {source="MONDO:cjm"} ! albinism relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch Orphanet:98706 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0020284 name: heart position anomaly comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98716"} xref: Orphanet:98716 {source="MONDO:equivalentTo"} is_a: EFO:0005269 {source="Orphanet:98716"} ! congenital heart malformation property_value: exactMatch Orphanet:98716 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020285 name: transposition of the great arteries and conotruncal cardiac anomaly comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98717"} xref: Orphanet:98717 {source="MONDO:equivalentTo"} is_a: EFO:0005269 {source="Orphanet:98717"} ! congenital heart malformation property_value: exactMatch Orphanet:98717 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020286 name: aortic malformation comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98718"} xref: Orphanet:98718 {source="MONDO:equivalentTo"} is_a: EFO:0005775 ! aortic disease is_a: MONDO:0020285 {source="Orphanet:98718"} ! transposition of the great arteries and conotruncal cardiac anomaly is_a: MONDO:0020292 {source="Orphanet:98718"} ! congenital anomaly of the great arteries property_value: exactMatch Orphanet:98718 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020288 name: atrioventricular valve anomaly comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98720"} xref: Orphanet:98720 {source="MONDO:equivalentTo"} is_a: EFO:0005269 {source="Orphanet:98720"} ! congenital heart malformation is_a: EFO:0009551 ! heart valve disease property_value: exactMatch Orphanet:98720 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020289 name: congenital tricuspid malformation subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98721"} xref: HP:0001702 {source="MONDO:otherHierarchy"} xref: Orphanet:98721 {source="MONDO:equivalentTo"} is_a: EFO:0009568 ! tricuspid valve disease is_a: MONDO:0020288 {source="MONDO:Redundant", source="Orphanet:98721"} ! atrioventricular valve anomaly relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch Orphanet:98721 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0020290 name: familial atrioventricular septal defect def: "A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves." [MESH:D004694] subset: disease_grouping subset: gard_rare subset: ordo_group_of_disorders {source="Orphanet:98722"} synonym: "atrioventricular canal defect" NARROW [DOID:0050651] synonym: "atrioventricular septal defect" NARROW [Orphanet:98722] synonym: "AV septal defect" NARROW [NCIT:C101029] synonym: "AVCD" NARROW ABBREVIATION [DOID:0050651] synonym: "AVSD" NARROW ABBREVIATION [DOID:0050651, Orphanet:98722] synonym: "common atrioventricular canal" NARROW [NCIT:C101029] synonym: "common AV canal" NARROW [NCIT:C101029] synonym: "ECD" NARROW ABBREVIATION [DOID:0050651] synonym: "endocardial cushion defect" NARROW [DOID:0050651] xref: DOID:0050651 {source="MONDO:equivalentTo"} xref: ICD9:745.6 {source="DOID:0050651"} xref: ICD9:745.60 {source="DOID:0050651", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:745.69 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C101029 {source="MONDO:equivalentTo"} xref: OMIMPS:606215 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:98722 {source="DOID:0050651", source="MONDO:equivalentTo"} xref: SCTID:15459006 {source="DOID:0050651", source="MONDO:equivalentTo"} is_a: MONDO:0002078 {source="DOID:0050651", source="NCIT:C101029"} ! heart septal defect is_a: MONDO:0020288 {source="Orphanet:98722"} ! atrioventricular valve anomaly property_value: exactMatch DOID:0050651 property_value: exactMatch http://identifiers.org/snomedct/15459006 property_value: exactMatch https://omim.org/phenotypicSeries/PS606215 property_value: exactMatch NCIT:C101029 property_value: exactMatch Orphanet:98722 [Term] id: MONDO:0020292 name: congenital anomaly of the great arteries subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98724"} synonym: "congenital aorta, aortic arch or pulmonary arteries anomaly" EXACT [Orphanet:98724] xref: MedDRA:10061080 {source="Orphanet:98724", source="Orphanet:98724/e"} xref: Orphanet:98724 {source="MONDO:equivalentTo"} is_a: EFO:0005269 {source="Orphanet:98724"} ! congenital heart malformation is_a: MONDO:0016229 ! hereditary vascular anomaly is_a: MONDO:0019063 {source="MONDO:0018723-obsoleted"} ! vascular anomaly relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: closeMatch http://identifiers.org/meddra/10061080 property_value: exactMatch Orphanet:98724 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0020293 name: ascending aorta anomaly comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98725"} xref: Orphanet:98725 {source="MONDO:equivalentTo"} is_a: MONDO:0020292 {source="Orphanet:98725"} ! congenital anomaly of the great arteries property_value: exactMatch Orphanet:98725 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020294 name: atrial defect and interatrial communication comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98727"} synonym: "atrial defect and interauricular communication" EXACT [Orphanet:98727] synonym: "rare atrial defect and interatrial communication" RELATED [Orphanet:98727] xref: Orphanet:98727 {source="MONDO:equivalentTo"} is_a: EFO:0005269 {source="Orphanet:98727"} ! congenital heart malformation property_value: exactMatch Orphanet:98727 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020295 name: congenital pulmonary veins anomaly def: "Aberrant drainage of one or more of the pulmonary veins which causes the return of oxygen-rich blood to the right atrium." [NCIT:C110942] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98729"} synonym: "congenital anomaly of pulmonary veins" EXACT [] synonym: "pulmonary vein abnormality" RELATED [] xref: NCIT:C110942 {source="MONDO:equivalentTo"} xref: Orphanet:98729 {source="MONDO:equivalentTo"} xref: SCTID:111322000 {source="MONDO:equivalentTo"} is_a: EFO:0005207 {source="NCIT:C110942"} ! congenital heart disease is_a: MONDO:0018185 {source="Orphanet:98729"} ! congenital anomaly of the great veins relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch http://identifiers.org/snomedct/111322000 property_value: exactMatch NCIT:C110942 property_value: exactMatch Orphanet:98729 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0020297 name: Noonan syndrome and Noonan-related syndrome subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98733"} xref: MESH:C537846 {source="MONDO:equivalentTo"} xref: Orphanet:98733 {source="MONDO:equivalentTo"} xref: UMLS:CN166718 {source="MONDO:equivalentTo"} is_a: EFO:1001502 {source="Orphanet:98733", source="https://github.com/monarch-initiative/mondo/issues/606"} ! rasopathy is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:98733", source="Orphanet:98733/inferred"} ! disorder of development or morphogenesis is_a: MONDO:0024573 ! familial hypertrophic cardiomyopathy property_value: exactMatch http://identifiers.org/mesh/C537846 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN166718 property_value: exactMatch Orphanet:98733 [Term] id: MONDO:0020298 name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 subset: ordo_etiological_subtype {source="Orphanet:98754"} synonym: "Prader-Willi syndrome due to maternal uniparental disomy of chromosome type 15" EXACT [MONDORULE:2, Orphanet:98754] synonym: "UPD(15)mat" EXACT [Orphanet:98754] xref: Orphanet:98754 {source="MONDO:equivalentTo"} xref: UMLS:CN207093 {source="MONDO:equivalentTo"} is_a: MONDO:0008300 {source="Orphanet:98754"} ! Prader-Willi syndrome is_a: MONDO:0700022 ! chromosome 15 disorder is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207093 property_value: exactMatch Orphanet:98754 [Term] id: MONDO:0020300 name: autosomal dominant nocturnal frontal lobe epilepsy def: "Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief." [Orphanet:98784] subset: ordo_disease {source="Orphanet:98784"} synonym: "ADNFLE" EXACT ABBREVIATION [Orphanet:98784] synonym: "ENFL" EXACT ABBREVIATION [DOID:0060681] xref: DOID:0060681 {source="MONDO:equivalentTo"} xref: ICD9:345.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C579932 {source="MONDO:equivalentTo"} xref: Orphanet:98784 {source="DOID:0060681", source="MONDO:equivalentTo"} xref: SCTID:698021005 {source="MONDO:equivalentTo"} xref: UMLS:C3696898 {source="Orphanet:98784", source="MONDO:equivalentTo"} is_a: MONDO:0002612 {source="DOID:0060681", source="MESH:C579932"} ! frontal lobe epilepsy is_a: MONDO:0017704 {source="Orphanet:98784"} ! familial partial epilepsy property_value: exactMatch DOID:0060681 property_value: exactMatch http://identifiers.org/mesh/C579932 property_value: exactMatch http://identifiers.org/snomedct/698021005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3696898 property_value: exactMatch Orphanet:98784 [Term] id: MONDO:0020301 name: Prader-Willi syndrome due to paternal 15q11q13 deletion subset: ordo_etiological_subtype {source="Orphanet:98793"} xref: Orphanet:98793 {source="MONDO:equivalentTo"} xref: UMLS:CN207115 {source="MONDO:equivalentTo"} is_a: MONDO:0008300 {source="Orphanet:98793"} ! Prader-Willi syndrome is_a: MONDO:0016913 {source="Orphanet:98793"} ! partial deletion of the long arm of chromosome 15 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207115 property_value: exactMatch Orphanet:98793 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0020302 name: Angelman syndrome due to maternal 15q11q13 deletion subset: ordo_etiological_subtype {source="Orphanet:98794"} synonym: "Angelman syndrome due to maternal monosomy 15q11q13" EXACT [Orphanet:98794] xref: Orphanet:98794 {source="MONDO:equivalentTo"} xref: UMLS:CN207116 {source="MONDO:equivalentTo"} is_a: MONDO:0007113 {source="Orphanet:98794"} ! Angelman syndrome is_a: MONDO:0016913 {source="Orphanet:98794"} ! partial deletion of the long arm of chromosome 15 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207116 property_value: exactMatch Orphanet:98794 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0020303 name: Angelman syndrome due to paternal uniparental disomy of chromosome 15 subset: ordo_etiological_subtype {source="Orphanet:98795"} synonym: "Angelman syndrome due to paternal uniparental disomy of chromosome type 15" EXACT [MONDORULE:2, Orphanet:98795] synonym: "UPD(15)pat" EXACT [Orphanet:98795] xref: Orphanet:98795 {source="MONDO:equivalentTo"} xref: UMLS:CN207117 {source="MONDO:equivalentTo"} is_a: MONDO:0007113 {source="Orphanet:98795"} ! Angelman syndrome is_a: MONDO:0700022 ! chromosome 15 disorder is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207117 property_value: exactMatch Orphanet:98795 [Term] id: MONDO:0020304 name: isochromosomy Yp def: "Isochromosomy Yp is a rare gonosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization." [Orphanet:98797] subset: ordo_malformation_syndrome {source="Orphanet:98797"} xref: Orphanet:98797 {source="MONDO:equivalentTo"} xref: SCTID:766708008 {source="MONDO:equivalentTo"} is_a: MONDO:0019935 {source="Orphanet:98797"} ! isochromosome Y property_value: exactMatch http://identifiers.org/snomedct/766708008 property_value: exactMatch Orphanet:98797 [Term] id: MONDO:0020305 name: isochromosomy Yq def: "Isochromosomy Yq is a rare gonosomy anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features and male phenotype with infertility due to azoospermia." [Orphanet:98798] subset: ordo_malformation_syndrome {source="Orphanet:98798"} xref: Orphanet:98798 {source="MONDO:equivalentTo"} is_a: MONDO:0019935 {source="Orphanet:98798"} ! isochromosome Y property_value: exactMatch Orphanet:98798 [Term] id: MONDO:0020306 name: obsolete absent tibia-polydactyly syndrome property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5501 xsd:anyURI is_obsolete: true replaced_by: MONDO:0008572 [Term] id: MONDO:0020307 name: benign childhood occipital epilepsy, Panayiotopoulos type def: "Benign childhood occipital epilepsy, Panayiotopoulos type is a rare, genetic neurological disorder characterized by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalized convulsion. Autonomic status epilepticus may be the only clinical event in some cases." [Orphanet:98815] subset: ordo_clinical_subtype {source="Orphanet:98815"} synonym: "early-onset benign childhood occipital epilepsy" EXACT [Orphanet:98815] synonym: "Panayiotopoulos syndrome" EXACT [Orphanet:98815] xref: ICD9:345.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:98815 {source="MONDO:equivalentTo"} xref: SCTID:230387008 {source="MONDO:equivalentTo"} xref: UMLS:CN207127 {source="MONDO:equivalentTo"} is_a: MONDO:0007558 {source="Orphanet:98815"} ! benign occipital epilepsy property_value: exactMatch http://identifiers.org/snomedct/230387008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207127 property_value: exactMatch Orphanet:98815 [Term] id: MONDO:0020308 name: benign childhood occipital epilepsy, Gastaut type def: "Benign childhood occipital epilepsy, Gastaut type is a rare, genetic neurological disorder characterized by childhood to mid-adolescence onset of frequent, brief, diurnal simple partial seizures which usually begin with visual hallucinations (e.g. phosphenes) and/or ictal blindness and may associate non visual seizures (such as deviation of the eyes, oculoclonic seizures), forced eyelid closure and blinking and sensory hallucinations. Post-ictal headache is common while impairment of consciousness is rare." [Orphanet:98816] subset: ordo_clinical_subtype {source="Orphanet:98816"} synonym: "late-onset benign childhood occipital epilepsy" EXACT [Orphanet:98816] xref: Orphanet:98816 {source="MONDO:equivalentTo"} xref: UMLS:CN207128 {source="MONDO:equivalentTo"} is_a: MONDO:0007558 {source="Orphanet:98816"} ! benign occipital epilepsy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207128 property_value: exactMatch Orphanet:98816 [Term] id: MONDO:0020310 name: familial focal epilepsy with variable foci def: "Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described." [Orphanet:98820] subset: ordo_disease {source="Orphanet:98820"} subset: prototype_pattern synonym: "epilepsy, familial focal, with variable foci" EXACT [MONDO:0000215, MONDO:Lexical, OMIM:604364] synonym: "familial focal epilepsy with variable foci" EXACT [] synonym: "familial partial epilepsy with variable foci" EXACT [Orphanet:98820] synonym: "FFEVF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604364, Orphanet:98820] xref: MESH:C565785 {source="MONDO:equivalentTo"} xref: OMIMPS:604364 {source="MONDO:equivalentTo"} xref: Orphanet:98820 {source="MONDO:equivalentTo", source="OMIM:604364"} xref: SCTID:764522009 {source="MONDO:equivalentTo"} xref: UMLS:CN207131 {source="MONDO:equivalentTo"} is_a: MONDO:0017704 {source="Orphanet:98820"} ! familial partial epilepsy is_a: MONDO:0100036 {source="https://orcid.org/0000-0001-8486-0558"} ! variable age onset epilepsy property_value: exactMatch http://identifiers.org/mesh/C565785 property_value: exactMatch http://identifiers.org/snomedct/764522009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207131 property_value: exactMatch https://omim.org/phenotypicSeries/PS604364 property_value: exactMatch Orphanet:98820 [Term] id: MONDO:0020312 name: obsolete atypical chronic myeloid leukemia property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4487 xsd:anyURI is_obsolete: true replaced_by: MONDO:0004653 [Term] id: MONDO:0020336 name: autosomal dominant Emery-Dreifuss muscular dystrophy def: "Autosomal dominant form of Emery-Dreifuss muscular dystrophy." [MONDO:patterns/autosomal_dominant] subset: gard_rare subset: ordo_etiological_subtype {source="Orphanet:98853"} synonym: "autosomal dominant Emery-Dreifuss muscular dystrophy" EXACT [] synonym: "EDMD2" NARROW ABBREVIATION [Orphanet:98853] synonym: "Emery-Dreifuss muscular dystrophy, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: Orphanet:98853 {source="MONDO:equivalentTo"} xref: UMLS:C0410190 {source="Orphanet:98853", source="Orphanet:98853/e", source="MONDO:directSiblingOf"} is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0016830 {source="MONDO:Redundant", source="Orphanet:98853"} ! Emery-Dreifuss muscular dystrophy is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy property_value: exactMatch Orphanet:98853 [Term] id: MONDO:0020337 name: congenital dyserythropoietic anemia type 1 def: "Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis." [Orphanet:98869] subset: ordo_disease {source="Orphanet:98869"} synonym: "anemia, dyserythropoietic, congenital type 1" RELATED [GARD:0002000] synonym: "CDA I" EXACT [Orphanet:98869] synonym: "CDA type 1" EXACT [Orphanet:98869] synonym: "CDA type I" EXACT [Orphanet:98869] synonym: "congenital dyserythropoietic anemia type 1" EXACT [Orphanet:98869] synonym: "dyserythropoietic anemia, congenital type 1" RELATED [GARD:0002000] synonym: "type I congenital dyserythropoietic anaemia" RELATED OMO:0003005 [] synonym: "type I congenital dyserythropoietic anemia" RELATED [GARD:0002000] xref: DOID:0111396 {source="MONDO:equivalentTo"} xref: Orphanet:98869 {source="MONDO:equivalentTo"} xref: SCTID:59548005 {source="MONDO:equivalentTo"} is_a: MONDO:0000577 ! congenital anemia is_a: MONDO:0019403 {source="Orphanet:98869"} ! congenital dyserythropoietic anemia property_value: exactMatch DOID:0111396 property_value: exactMatch http://identifiers.org/snomedct/59548005 property_value: exactMatch Orphanet:98869 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0020339 name: X-linked complex spastic paraplegia comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98888"} synonym: "Complex X-linked HSP" EXACT [Orphanet:98888] synonym: "Complex X-linked SPG" EXACT [Orphanet:98888] synonym: "complicated X-linked HSP" EXACT [Orphanet:98888] synonym: "complicated X-linked SPG" EXACT [Orphanet:98888] synonym: "X-linked complicated spastic paraplegia" EXACT [Orphanet:98888] xref: Orphanet:98888 {source="MONDO:equivalentTo"} is_a: MONDO:0015150 {source="Orphanet:98888"} ! complex hereditary spastic paraplegia property_value: exactMatch Orphanet:98888 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020340 name: bilateral perisylvian polymicrogyria subset: ordo_clinical_subtype {source="Orphanet:98889"} xref: DOID:0080924 {source="MONDO:equivalentTo"} xref: Orphanet:98889 {source="MONDO:equivalentTo"} is_a: MONDO:0017091 {source="Orphanet:98889"} ! bilateral polymicrogyria property_value: exactMatch DOID:0080924 property_value: exactMatch Orphanet:98889 [Term] id: MONDO:0020341 name: periventricular nodular heterotopia def: "Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males." [Orphanet:98892] subset: ordo_clinical_subtype {source="Orphanet:98892"} synonym: "periventricular heterotopia" EXACT [DOID:0050454] synonym: "periventricular nodular heterotopia" EXACT [] xref: DOID:0050454 {source="MONDO:equivalentTo"} xref: MedDRA:10066854 {source="Orphanet:98892/e", source="Orphanet:98892"} xref: MESH:D054091 {source="DOID:0050454", source="Orphanet:98892/e", source="MONDO:equivalentTo", source="Orphanet:98892"} xref: OMIMPS:300049 {source="MONDO:equivalentTo"} xref: Orphanet:98892 {source="DOID:0050454", source="MONDO:equivalentTo"} xref: UMLS:C1868720 {source="DOID:0050454", source="Orphanet:98892/e", source="MONDO:equivalentTo", source="Orphanet:98892"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0002320 {source="DOID:0050454", source="MONDO:indirect"} ! congenital nervous system disorder is_a: MONDO:0016292 {source="Orphanet:98892"} ! nodular neuronal heterotopia property_value: closeMatch http://identifiers.org/meddra/10066854 property_value: exactMatch DOID:0050454 property_value: exactMatch http://identifiers.org/mesh/D054091 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868720 property_value: exactMatch https://omim.org/phenotypicSeries/PS300049 property_value: exactMatch Orphanet:98892 [Term] id: MONDO:0020342 name: obsolete congenital myopathy with excess of thin filaments property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6036 xsd:anyURI is_obsolete: true replaced_by: MONDO:0008070 [Term] id: MONDO:0020343 name: alpha-crystallinopathy comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98910"} synonym: "CRYAB-related myofobrillar myopathy" EXACT [Orphanet:98910] xref: Orphanet:98910 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0016188 {source="Orphanet:98910"} ! qualitative or quantitative defects of alphaB-cristallin is_a: MONDO:0018943 {source="Orphanet:98910"} ! myofibrillar myopathy property_value: exactMatch Orphanet:98910 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020344 name: postsynaptic congenital myasthenic syndrome subset: ordo_etiological_subtype {source="Orphanet:98913"} synonym: "postsynaptic congenital myasthenic syndromes" RELATED [Orphanet:98913] xref: Orphanet:98913 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0018940 {source="MONDO:Redundant", source="Orphanet:98913"} ! congenital myasthenic syndrome property_value: exactMatch Orphanet:98913 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0020345 name: presynaptic congenital myasthenic syndrome comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: obsoletion_candidate subset: ordo_etiological_subtype {source="Orphanet:98914"} synonym: "presynaptic congenital myasthenic syndromes" RELATED [Orphanet:98914] xref: Orphanet:98914 {source="MONDO:equivalentTo"} is_a: MONDO:0018940 {source="MONDO:Redundant", source="Orphanet:98914"} ! congenital myasthenic syndrome property_value: exactMatch Orphanet:98914 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0020346 name: synaptic congenital myasthenic syndrome comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: obsoletion_candidate subset: ordo_etiological_subtype {source="Orphanet:98915"} synonym: "synaptic congenital myasthenic syndromes" RELATED [Orphanet:98915] xref: Orphanet:98915 {source="MONDO:equivalentTo"} is_a: MONDO:0018940 {source="Orphanet:98915"} ! congenital myasthenic syndrome property_value: exactMatch Orphanet:98915 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0020353 name: von Hippel anomaly subset: ordo_malformation_syndrome {source="Orphanet:98941"} xref: Orphanet:98941 {source="MONDO:equivalentObsolete"} is_a: MONDO:0011414 {source="Orphanet:98941"} ! Peters anomaly [Term] id: MONDO:0020354 name: coloboma of choroid and retina def: "Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated." [Orphanet:98942] subset: ordo_morphological_anomaly {source="Orphanet:98942"} synonym: "choroidal coloboma" RELATED [GARD:0001432] synonym: "retinal coloboma" RELATED [GARD:0001432] synonym: "retinochoroidal coloboma" RELATED [GARD:0001432] xref: Orphanet:98942 {source="MONDO:equivalentTo"} xref: SCTID:39302008 {source="MONDO:equivalentTo"} is_a: MONDO:0007350 ! coloboma, ocular, autosomal dominant property_value: exactMatch http://identifiers.org/snomedct/39302008 property_value: exactMatch Orphanet:98942 [Term] id: MONDO:0020355 name: coloboma of eye lens subset: gard_rare {source="GARD:0001433"} subset: ordo_morphological_anomaly {source="Orphanet:98943"} xref: Orphanet:98943 {source="MONDO:equivalentTo"} is_a: MONDO:0001476 {source="Orphanet:98943"} ! coloboma property_value: exactMatch Orphanet:98943 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1433/coloboma-of-eye-lens xsd:anyURI {source="GARD:0001433"} [Term] id: MONDO:0020356 name: coloboma of iris def: "A congenital or acquired defect characterized by the presence of a hole in or adjacent to the iris." [NCIT:C98879] subset: ordo_morphological_anomaly {source="Orphanet:98944"} synonym: "coloboma of iris" EXACT [MONDO:ambiguous] synonym: "coloboma of iris (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "coloboma of the iris" EXACT [NCIT:C98879] xref: HP:0000612 {source="MONDO:otherHierarchy"} xref: MedDRA:10052642 {source="Orphanet:98944", source="Orphanet:98944/e"} xref: NCIT:C98879 {source="MONDO:equivalentTo"} xref: Orphanet:98944 {source="MONDO:equivalentTo"} xref: SCTID:9446007 {source="MONDO:equivalentTo"} is_a: MONDO:0007350 ! coloboma, ocular, autosomal dominant property_value: closeMatch http://identifiers.org/meddra/10052642 property_value: exactMatch http://identifiers.org/snomedct/9446007 property_value: exactMatch NCIT:C98879 property_value: exactMatch Orphanet:98944 property_value: IAO:0000589 "coloboma of iris (disease)" xsd:string [Term] id: MONDO:0020357 name: coloboma of eyelid def: "A congenital abnormality in which a part of the upper or lower eyelid tissue is missing." [NCIT:C98878] subset: ordo_morphological_anomaly {source="Orphanet:98946"} synonym: "coloboma of the eyelid" EXACT [NCIT:C98878] xref: NCIT:C98878 {source="MONDO:equivalentTo"} xref: Orphanet:98946 {source="MONDO:equivalentTo"} xref: SCTID:95202004 {source="MONDO:equivalentTo"} xref: UMLS:C0521573 {source="NCIT:C98878", source="MONDO:equivalentTo", source="Orphanet:98946", source="Orphanet:98946/e"} is_a: MONDO:0001476 {source="Orphanet:98946"} ! coloboma is_a: MONDO:0020155 {source="Orphanet:98946"} ! eyelid border anomaly property_value: exactMatch http://identifiers.org/snomedct/95202004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0521573 property_value: exactMatch NCIT:C98878 property_value: exactMatch Orphanet:98946 [Term] id: MONDO:0020358 name: obsolete coloboma of optic disk property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4364 xsd:anyURI is_obsolete: true replaced_by: MONDO:0007354 [Term] id: MONDO:0020359 name: congenital symblepharon subset: ordo_clinical_subtype {source="Orphanet:98948"} xref: DOID:0111720 {source="MONDO:equivalentTo"} xref: Orphanet:98948 {source="MONDO:equivalentTo"} is_a: MONDO:0007410 {source="Orphanet:98948"} ! isolated cryptophthalmia relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch DOID:0111720 property_value: exactMatch Orphanet:98948 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0020360 name: complete cryptophthalmia subset: ordo_clinical_subtype {source="Orphanet:98949"} xref: DOID:0111719 {source="MONDO:equivalentTo"} xref: Orphanet:98949 {source="MONDO:equivalentTo"} is_a: MONDO:0007410 {source="Orphanet:98949"} ! isolated cryptophthalmia property_value: exactMatch DOID:0111719 property_value: exactMatch Orphanet:98949 [Term] id: MONDO:0020361 name: partial cryptophthalmia subset: ordo_clinical_subtype {source="Orphanet:98950"} xref: DOID:0111718 {source="MONDO:equivalentTo"} xref: Orphanet:98950 {source="MONDO:equivalentTo"} is_a: MONDO:0007410 {source="Orphanet:98950"} ! isolated cryptophthalmia property_value: exactMatch DOID:0111718 property_value: exactMatch Orphanet:98950 [Term] id: MONDO:0020362 name: inverse Marcus-Gunn phenomenon def: "Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported." [Orphanet:98951] subset: ordo_clinical_subtype {source="Orphanet:98951"} xref: Orphanet:98951 {source="MONDO:equivalentTo"} xref: UMLS:CN207213 {source="MONDO:equivalentTo"} is_a: MONDO:0007946 {source="Orphanet:98951"} ! jaw-winking syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207213 property_value: exactMatch Orphanet:98951 [Term] id: MONDO:0020363 name: honey-droplet corneal dystrophy subset: ordo_disease {source="Orphanet:98958"} xref: Orphanet:98958 {source="MONDO:equivalentTo"} xref: UMLS:CN207218 {source="MONDO:equivalentTo"} is_a: MONDO:0020212 ! superficial corneal dystrophy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207218 property_value: exactMatch Orphanet:98958 [Term] id: MONDO:0020364 name: posterior polymorphous corneal dystrophy def: "Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision." [Orphanet:98973] subset: ordo_disease {source="Orphanet:98973"} synonym: "corneal dystrophy, posterior polymorphous" EXACT [OMIMPS:122000] synonym: "hereditary polymorphus posterior corneal dystrophy" EXACT [DOID:0060457] synonym: "posterior polymorphous dystrophy" EXACT [Orphanet:98973] synonym: "PPCD" EXACT ABBREVIATION [DOID:0060457, Orphanet:98973] synonym: "Schlichting dystrophy" EXACT [DOID:0060457, Orphanet:98973] xref: DOID:0060457 {source="MONDO:equivalentTo"} xref: OMIMPS:122000 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:98973 {source="DOID:0060457", source="MONDO:equivalentTo"} xref: UMLS:CN239252 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0000766 {source="DOID:0060457"} ! corneal endothelial dystrophy is_a: MONDO:0020214 {source="Orphanet:98973"} ! posterior corneal dystrophy property_value: exactMatch DOID:0060457 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239252 property_value: exactMatch https://omim.org/phenotypicSeries/PS122000 property_value: exactMatch Orphanet:98973 [Term] id: MONDO:0020365 name: congenital hereditary endothelial dystrophy type I def: "Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision." [Orphanet:98975] subset: ordo_disease {source="Orphanet:98975"} synonym: "autosomal dominant CHED" EXACT [Orphanet:98975] synonym: "autosomal dominant congenital hereditary endothelial dystrophy" EXACT [Orphanet:98975] synonym: "CHED1" EXACT ABBREVIATION [Orphanet:98975] synonym: "CHEDI" EXACT ABBREVIATION [Orphanet:98975] synonym: "congenital hereditary endothelial dystrophy type 1" EXACT [Orphanet:98975] xref: OMIM:121700 {source="MONDO:equivalentObsolete", source="Orphanet:98975", source="Orphanet:98975/e"} xref: Orphanet:98975 {source="MONDO:equivalentTo"} xref: SCTID:416633008 {source="MONDO:equivalentTo"} is_a: MONDO:0020214 {source="Orphanet:98975"} ! posterior corneal dystrophy property_value: exactMatch http://identifiers.org/snomedct/416633008 property_value: exactMatch Orphanet:98975 [Term] id: MONDO:0020366 name: congenital glaucoma def: "A developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm." [https://orcid.org/0000-0001-5208-3432, Orphanet:98976] comment: Editor note: check placement of subclasses subset: ordo_disease {source="Orphanet:98976"} synonym: "buphthalmia" EXACT [Orphanet:98976] synonym: "buphthalmos" EXACT [Orphanet:98976] synonym: "Buphthalmus" EXACT [Orphanet:98976] synonym: "primary congenital glaucoma" NARROW [Orphanet:98976] xref: NCIT:C50648 {source="MONDO:equivalentTo"} xref: SCTID:204113001 {source="MONDO:equivalentTo"} is_a: MONDO:0015485 {source="Orphanet:98976"} ! primary hereditary glaucoma relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch http://identifiers.org/snomedct/204113001 property_value: exactMatch NCIT:C50648 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0020367 name: juvenile open angle glaucoma def: "Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment." [Orphanet:98977] subset: ordo_disease {source="Orphanet:98977"} synonym: "childhood glaucoma (disease)" EXACT [] synonym: "glaucoma (disease) of childhood" EXACT [MONDO:patterns/childhood] synonym: "glaucoma of childhood" EXACT [DOID:1068, ICD9CM:365.14] synonym: "JOAG" EXACT ABBREVIATION [] synonym: "juvenile glaucoma" EXACT [] synonym: "paediatric glaucoma (disease)" EXACT OMO:0003005 [] synonym: "pediatric glaucoma (disease)" EXACT [MONDO:patterns/childhood] xref: DOID:1068 {source="MONDO:equivalentTo"} xref: ICD9:365.14 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10064032 {source="Orphanet:98977", source="Orphanet:98977/e"} xref: Orphanet:98977 {source="MONDO:equivalentTo"} xref: SCTID:71111008 {source="MONDO:equivalentTo"} xref: UMLS:C2981140 {source="MONDO:equivalentTo", source="Orphanet:98977"} is_a: EFO:0004190 {source="DOID:1068"} ! open-angle glaucoma is_a: MONDO:0015485 {source="Orphanet:98977"} ! primary hereditary glaucoma property_value: closeMatch http://identifiers.org/meddra/10064032 property_value: exactMatch DOID:1068 property_value: exactMatch http://identifiers.org/snomedct/71111008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2981140 property_value: exactMatch Orphanet:98977 [Term] id: MONDO:0020368 name: Axenfeld anomaly def: "Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbe's line and iris bands extending into the cornea. In contrast, Rieger's anomaly includes characteristic iris and pupil anomalies." [Orphanet:98978] subset: ordo_morphological_anomaly {source="Orphanet:98978"} xref: ICD9:743.44 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10058653 {source="Orphanet:98978", source="Orphanet:98978/e"} xref: Orphanet:98978 {source="MONDO:equivalentTo"} xref: SCTID:204152008 {source="MONDO:equivalentTo"} is_a: EFO:0003966 {source="https://orcid.org/0000-0001-5208-3432"} ! eye disease property_value: closeMatch http://identifiers.org/meddra/10058653 property_value: exactMatch http://identifiers.org/snomedct/204152008 property_value: exactMatch Orphanet:98978 property_value: excluded_subClassOf MONDO:0020218 {source="Orphanet:98978"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4397 xsd:anyURI [Term] id: MONDO:0020369 name: Chandler syndrome def: "Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome, is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy." [Orphanet:98979] subset: ordo_clinical_subtype {source="Orphanet:98979"} synonym: "Chandler's syndrome" EXACT [DOID:11554, GARD:0006033] synonym: "dystrophy of corneal endothelium" EXACT [DOID:11554] synonym: "endothelial corneal dystrophy" EXACT [DOID:11554, ICD9CM:371.57] synonym: "posterior membrane corneal dystrophy" EXACT [DOID:11554] xref: DOID:11554 {source="MONDO:equivalentTo"} xref: ICD9:371.57 {source="MONDO:directSiblingOf", source="DOID:11554"} xref: MedDRA:10057487 {source="Orphanet:98979", source="Orphanet:98979/e"} xref: Orphanet:98979 {source="MONDO:equivalentTo"} xref: SCTID:416960004 {source="MONDO:directSiblingOf", source="DOID:11554"} xref: UMLS:C0544008 {source="MONDO:equivalentTo", source="Orphanet:98979", source="DOID:11554", source="Orphanet:98979/e"} is_a: MONDO:0018988 {source="Orphanet:98979"} ! iridocorneal endothelial syndrome property_value: closeMatch http://identifiers.org/meddra/10057487 property_value: exactMatch DOID:11554 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0544008 property_value: exactMatch Orphanet:98979 [Term] id: MONDO:0020370 name: Cogan-Reese syndrome def: "Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease." [Orphanet:98980] subset: gard_rare {source="GARD:0006125"} subset: ordo_clinical_subtype {source="Orphanet:98980"} xref: DOID:0060217 {source="MONDO:equivalentTo"} xref: MedDRA:10059200 {source="Orphanet:98980/e", source="DOID:0060217", source="Orphanet:98980"} xref: NCIT:C84644 {source="MONDO:equivalentTo", source="DOID:0060217"} xref: Orphanet:98980 {source="MONDO:equivalentTo", source="DOID:0060217"} xref: SCTID:404633004 {source="MONDO:equivalentTo", source="DOID:0060217"} xref: UMLS:C1168173 {source="NCIT:C84644", source="Orphanet:98980/e", source="MONDO:equivalentTo", source="DOID:0060217", source="Orphanet:98980"} is_a: MONDO:0018988 {source="Orphanet:98980"} ! iridocorneal endothelial syndrome property_value: closeMatch http://identifiers.org/meddra/10059200 property_value: exactMatch DOID:0060217 property_value: exactMatch http://identifiers.org/snomedct/404633004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1168173 property_value: exactMatch NCIT:C84644 property_value: exactMatch Orphanet:98980 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6125/cogan-reese-syndrome xsd:anyURI {source="GARD:0006125"} [Term] id: MONDO:0020371 name: essential iris atrophy def: "Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease." [Orphanet:98981] subset: ordo_clinical_subtype {source="Orphanet:98981"} xref: ICD9:364.51 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: Orphanet:98981 {source="MONDO:equivalentTo"} xref: SCTID:25913001 {source="MONDO:equivalentTo"} xref: UMLS:C0271111 {source="MONDO:equivalentTo"} xref: UMLS:CN207238 {source="MONDO:equivalentTo"} is_a: MONDO:0018988 {source="Orphanet:98981"} ! iridocorneal endothelial syndrome property_value: exactMatch http://identifiers.org/snomedct/25913001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271111 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207238 property_value: exactMatch Orphanet:98981 [Term] id: MONDO:0020372 name: early-onset sutural cataract subset: ordo_clinical_subtype {source="Orphanet:98985"} synonym: "early-onset cataract with Y-shaped suture opacities" EXACT [Orphanet:98985] xref: Orphanet:98985 {source="MONDO:equivalentTo"} is_a: MONDO:0020379 {source="Orphanet:98985"} ! early-onset zonular cataract property_value: exactMatch Orphanet:98985 [Term] id: MONDO:0020373 name: early-onset anterior polar cataract subset: ordo_clinical_subtype {source="Orphanet:98988"} synonym: "cataract anterior polar" RELATED [GARD:0001140] synonym: "early-onset anterior subcapsular cataract" EXACT [Orphanet:98988] xref: Orphanet:98988 {source="MONDO:equivalentTo"} xref: UMLS:C1855179 {source="MONDO:equivalentTo", source="Orphanet:98988", source="Orphanet:98988/e"} is_a: MONDO:0020377 {source="Orphanet:98988"} ! early-onset partial cataract property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855179 property_value: exactMatch Orphanet:98988 [Term] id: MONDO:0020374 name: cerulean cataract def: "Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens." [Orphanet:98989] subset: ordo_clinical_subtype {source="Orphanet:98989"} synonym: "blue-dot cataract" EXACT [Orphanet:98989] synonym: "cataract, congenital, blue dot type 1" RELATED [GARD:0009508] synonym: "cataract, congenital, cerulean type 1" RELATED [GARD:0009508] xref: ICD9:743.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537955 {source="MONDO:equivalentTo", source="Orphanet:98989", source="Orphanet:98989/e"} xref: Orphanet:98989 {source="MONDO:equivalentTo"} xref: SCTID:204138006 {source="MONDO:equivalentTo"} is_a: MONDO:0020377 {source="Orphanet:98989"} ! early-onset partial cataract property_value: exactMatch http://identifiers.org/mesh/C537955 property_value: exactMatch http://identifiers.org/snomedct/204138006 property_value: exactMatch Orphanet:98989 [Term] id: MONDO:0020375 name: coralliform cataract comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: obsoletion_candidate subset: ordo_clinical_subtype {source="Orphanet:98990"} xref: Orphanet:98990 {source="MONDO:equivalentTo"} xref: UMLS:CN207246 {source="MONDO:equivalentTo"} is_a: MONDO:0020377 {source="Orphanet:98990"} ! early-onset partial cataract property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207246 property_value: exactMatch Orphanet:98990 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0020376 name: early-onset nuclear cataract subset: ordo_clinical_subtype {source="Orphanet:98991"} xref: MedDRA:10007759 {source="Orphanet:98991/e", source="Orphanet:98991"} xref: MedDRA:10057735 {source="Orphanet:98991/e", source="Orphanet:98991"} xref: MESH:C563333 {source="MONDO:equivalentTo"} xref: Orphanet:98991 {source="MONDO:equivalentTo"} xref: UMLS:CN207247 {source="MONDO:equivalentTo"} is_a: MONDO:0020379 {source="Orphanet:98991"} ! early-onset zonular cataract property_value: closeMatch http://identifiers.org/meddra/10007759 property_value: closeMatch http://identifiers.org/meddra/10057735 property_value: exactMatch http://identifiers.org/mesh/C563333 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207247 property_value: exactMatch Orphanet:98991 [Term] id: MONDO:0020377 name: early-onset partial cataract subset: ordo_clinical_subtype {source="Orphanet:98992"} xref: Orphanet:98992 {source="MONDO:equivalentTo"} xref: UMLS:CN207248 {source="MONDO:equivalentTo"} is_a: MONDO:0011060 {source="Orphanet:98992"} ! early-onset non-syndromic cataract property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207248 property_value: exactMatch Orphanet:98992 [Term] id: MONDO:0020378 name: early-onset posterior polar cataract subset: ordo_clinical_subtype {source="Orphanet:98993"} xref: Orphanet:98993 {source="MONDO:equivalentTo"} is_a: MONDO:0013411 ! cataract 16 multiple types property_value: exactMatch Orphanet:98993 [Term] id: MONDO:0020379 name: early-onset zonular cataract subset: gard_rare {source="GARD:0001898"} subset: ordo_clinical_subtype {source="Orphanet:98995"} xref: MESH:C535342 {source="MONDO:relatedTo", source="Orphanet:98995", source="Orphanet:98995/e"} xref: Orphanet:98995 {source="MONDO:equivalentTo"} xref: UMLS:CN207251 {source="MONDO:equivalentTo"} is_a: MONDO:0020377 {source="Orphanet:98995"} ! early-onset partial cataract property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207251 property_value: exactMatch Orphanet:98995 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1898/early-onset-zonular-cataract xsd:anyURI {source="GARD:0001898"} [Term] id: MONDO:0020380 name: autosomal dominant cerebellar ataxia def: "A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy." [https://orcid.org/0000-0001-5208-3432, Orphanet:99] subset: disease_grouping subset: gard_rare subset: ordo_group_of_disorders {source="Orphanet:99"} synonym: "ADCA" EXACT ABBREVIATION [GARD:0004346, Orphanet:99] synonym: "autosomal dominant spinocerebellar ataxia" EXACT [Orphanet:99] synonym: "cerebellar ataxia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] synonym: "Pierre Marie cerebellar ataxia (formerly)" RELATED [GARD:0004346] synonym: "SCA" BROAD ABBREVIATION [] synonym: "spinocerebellar ataxia" BROAD [DOID:1441] xref: DOID:1441 {source="MONDO:equivalentTo"} xref: ICD9:334.3 {source="DOID:1441", source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIMPS:164400 {source="MONDO:equivalentTo"} xref: Orphanet:99 {source="MONDO:equivalentTo"} xref: SCTID:129609000 {source="DOID:1441", source="MONDO:equivalentTo"} xref: UMLS:CN227858 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0015547 ! hereditary dementia is_a: MONDO:0022687 {source="MONDO:Redundant"} ! cerebellar degeneration is_a: MONDO:0100310 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary cerebellar ataxia relationship: disease_has_major_feature MONDO:0001627 ! dementia property_value: exactMatch DOID:1441 property_value: exactMatch http://identifiers.org/snomedct/129609000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227858 property_value: exactMatch https://omim.org/phenotypicSeries/PS164400 property_value: exactMatch Orphanet:99 property_value: excluded_subClassOf MONDO:0000437 {source="MONDO:Entailed", source="MONDO:cjm", source="Orphanet:99/inferred"} property_value: excluded_subClassOf MONDO:0015368 {source="MONDO:0020263-obsoleted"} property_value: excluded_subClassOf MONDO:0100309 {source="DOID:1441", source="Orphanet:99"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/pull/2571/ xsd:anyURI [Term] id: MONDO:0020381 name: patterned macular dystrophy def: "A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped." [DOID:0060863] synonym: "macular dystrophy, patterned" EXACT [OMIMPS:169150] synonym: "patterned dystrophy of retinal pigment epithelium" EXACT [DOID:0060863] xref: DOID:0060863 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0060863", source="Orphanet:99001/attributed", source="Orphanet:99001/ntbt", source="Orphanet:99001"} xref: OMIMPS:169150 {source="MONDO:equivalentTo", source="DOID:0060863"} xref: Orphanet:99001 {source="MONDO:relatedTo", source="DOID:0060863"} xref: SCTID:725590001 {source="MONDO:directSiblingOf"} xref: UMLS:C4511237 {source="MONDO:directSiblingOf"} xref: UMLS:CN207254 {source="MONDO:equivalentTo"} is_a: EFO:0009606 {source="DOID:0060863"} ! macular degeneration is_a: MONDO:0018973 {source="Orphanet:99001"} ! patterned dystrophy of the retinal pigment epithelium property_value: exactMatch DOID:0060863 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207254 property_value: exactMatch https://omim.org/phenotypicSeries/PS169150 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1819 xsd:anyURI [Term] id: MONDO:0020382 name: multifocal pattern dystrophy simulating fundus flavimaculatus def: "Multifocal pattern dystrophy simulating fundus flavimaculatus is a patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age." [Orphanet:99003] subset: ordo_disease {source="Orphanet:99003"} synonym: "multifocal pattern dystrophy simulating Stargardt disease" EXACT [Orphanet:99003] xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:99003/attributed", source="Orphanet:99003/ntbt", source="Orphanet:99003"} xref: Orphanet:99003 {source="MONDO:equivalentTo"} xref: SCTID:723408004 {source="MONDO:equivalentTo"} xref: UMLS:CN207256 {source="MONDO:equivalentTo"} is_a: MONDO:0018973 {source="Orphanet:99003"} ! patterned dystrophy of the retinal pigment epithelium property_value: exactMatch http://identifiers.org/snomedct/723408004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207256 property_value: exactMatch Orphanet:99003 [Term] id: MONDO:0020383 name: fundus pulverulentus def: "Fundus pulverulentus is a rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported." [Orphanet:99004] subset: ordo_disease {source="Orphanet:99004"} xref: ICD10CM:H35.5 {source="Orphanet:99004", source="MONDO:relatedTo", source="Orphanet:99004/attributed", source="Orphanet:99004/ntbt"} xref: Orphanet:99004 {source="MONDO:equivalentTo"} xref: UMLS:CN207257 {source="MONDO:equivalentTo"} is_a: MONDO:0018973 {source="Orphanet:99004"} ! patterned dystrophy of the retinal pigment epithelium property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207257 property_value: exactMatch Orphanet:99004 [Term] id: MONDO:0020384 name: Niemann-Pick disease type E def: "Niemann-Pick disease, type E is a poorly defined adult-onset and non-neuronopathic form of Niemann-Pick disease." [Orphanet:99022] subset: ordo_disease {source="Orphanet:99022"} xref: Orphanet:99022 {source="MONDO:equivalentObsolete"} xref: SCTID:73399005 {source="MONDO:equivalentTo"} is_a: EFO:1001380 {source="MONDO:cjm", source="Orphanet:99022"} ! Niemann-Pick disease property_value: exactMatch http://identifiers.org/snomedct/73399005 [Term] id: MONDO:0020385 name: congenitally uncorrected transposition of the great arteries with coarctation subset: ordo_clinical_subtype {source="Orphanet:99042"} synonym: "congenitally uncorrected transposition of the great vessels with coarctation" EXACT [Orphanet:99042] synonym: "TGA with coarctation" EXACT [Orphanet:99042] xref: Orphanet:99042 {source="MONDO:equivalentTo"} is_a: MONDO:0019443 {source="Orphanet:99042"} ! dextro-looped transposition of the great arteries relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch Orphanet:99042 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0020386 name: double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis subset: ordo_clinical_subtype {source="Orphanet:99043"} synonym: "DORV with subaortic or doubly committed VSD with pulmonary stenosis" EXACT [Orphanet:99043] synonym: "DORV, Fallot type" EXACT [Orphanet:99043] synonym: "double outlet right ventricle, Fallot type" EXACT [Orphanet:99043] xref: ICD10CM:Q21.3 {source="MONDO:relatedTo", source="Orphanet:99043", source="Orphanet:99043/attributed", source="Orphanet:99043/ntbt"} xref: Orphanet:99043 {source="MONDO:equivalentTo"} xref: SCTID:253298003 {source="MONDO:equivalentTo"} is_a: MONDO:0018089 {source="Orphanet:99043"} ! double outlet right ventricle property_value: exactMatch http://identifiers.org/snomedct/253298003 property_value: exactMatch Orphanet:99043 [Term] id: MONDO:0020387 name: double outlet right ventricle with subpulmonary ventricular septal defect subset: ordo_clinical_subtype {source="Orphanet:99045"} synonym: "DORV with subpulmonary VSD" EXACT [Orphanet:99045] synonym: "DORV-TGA" EXACT [Orphanet:99045] synonym: "Double outlet right ventricle with transposition of the great arteries" EXACT [Orphanet:99045] synonym: "Taussig-Bing syndrome" EXACT [Orphanet:99045] xref: Orphanet:99045 {source="MONDO:equivalentTo"} xref: SCTID:448794008 {source="MONDO:equivalentTo"} xref: UMLS:CN207267 {source="MONDO:equivalentTo"} is_a: MONDO:0018089 {source="Orphanet:99045"} ! double outlet right ventricle property_value: exactMatch http://identifiers.org/snomedct/448794008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207267 property_value: exactMatch Orphanet:99045 [Term] id: MONDO:0020388 name: double outlet right ventricle with non-committed subpulmonary ventricular septal defect subset: ordo_clinical_subtype {source="Orphanet:99046"} synonym: "DORV with non-committed subpulmonary VSD" EXACT [Orphanet:99046] xref: Orphanet:99046 {source="MONDO:equivalentTo"} is_a: MONDO:0018089 {source="Orphanet:99046"} ! double outlet right ventricle property_value: exactMatch Orphanet:99046 [Term] id: MONDO:0020398 name: congenital mitral stenosis def: "Congenital mitral stenosis is a congenital heart malformation comprising a spectrum of morphologically heterogeneous developmental anomalies that result in functional and anatomic obstruction of inflow into the left ventricle. The structure of the mitral valve is affected at the level of the supravalvular ring, annulus, leaflets or subvalvar copmponents and include supra-valvular ring, leaflet fusion (intra-leaflet ring), mitral parachute deformity and papillary muscle abnormalities. It may be isolated or associated with other heart malformations. The clinical presentation depends on the degree of obstruction, the presence of regurgitation, the presence and severity of associated pulmonary hypertension, and the presence of associated heart malformations. It may present with symptoms and signs of low cardiac output and right ventricular failure such as pulmonary infections, failure to thrive, exertional dyspnea, cough, cyanosis and congestive heart failure." [Orphanet:99057] subset: gard_rare subset: ordo_morphological_anomaly {source="Orphanet:99057"} synonym: "congenital mitral stenosis" EXACT [MONDO:ambiguous] synonym: "congenital mitral stenosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "congenital mitral valve stenosis" EXACT [] synonym: "hereditary mitral valve stenosis" EXACT [MONDO:patterns/hereditary] xref: HP:0011570 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q23.2 {source="Orphanet:99057/e", source="MONDO:equivalentTo", source="Orphanet:99057"} xref: ICD9:746.5 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: Orphanet:99057 {source="MONDO:equivalentTo"} xref: SCTID:82458004 {source="MONDO:equivalentTo"} is_a: EFO:0007372 ! mitral valve stenosis is_a: MONDO:0019817 {source="ICD10CM:Q23.2", source="Orphanet:99057"} ! congenital mitral valve insufficiency and/or stenosis is_a: MONDO:0042966 ! inherited mitral valve disease intersection_of: EFO:0007372 ! mitral valve stenosis intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/snomedct/82458004 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q23.2 property_value: exactMatch Orphanet:99057 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000589 "congenital mitral stenosis (disease)" xsd:string [Term] id: MONDO:0020404 name: shone complex def: "A congenital cardiovascular abnormality characterized by the presence of subvalvar left ventricular outflow tract obstruction, coarctation of the aorta, and mitral stenosis." [NCIT:C99058] subset: ordo_malformation_syndrome {source="Orphanet:99063"} synonym: "shone syndrome" EXACT [NCIT:C99058] synonym: "shone's syndrome (greater than 3 sites)" EXACT [NCIT:C99058] xref: ICD9:746.84 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10066802 {source="Orphanet:99063", source="Orphanet:99063/e"} xref: NCIT:C99058 {source="MONDO:equivalentTo"} xref: Orphanet:99063 {source="MONDO:equivalentTo"} xref: SCTID:41371000119100 {source="MONDO:equivalentTo"} xref: UMLS:C1868705 {source="MONDO:equivalentTo", source="Orphanet:99063", source="Orphanet:99063/e"} is_a: MONDO:0002254 {source="NCIT:C99058"} ! syndromic disease is_a: MONDO:0019817 {source="Orphanet:99063"} ! congenital mitral valve insufficiency and/or stenosis property_value: closeMatch http://identifiers.org/meddra/10066802 property_value: exactMatch http://identifiers.org/snomedct/41371000119100 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868705 property_value: exactMatch NCIT:C99058 property_value: exactMatch Orphanet:99063 [Term] id: MONDO:0020427 name: Laubry-Pezzi syndrome def: "Laubry-Pezzi syndrome is a rare, non-syndromic, congenital heart malformation characterized by the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations, chest pain and exercise intolerance." [Orphanet:99094] subset: ordo_morphological_anomaly {source="Orphanet:99094"} synonym: "ventricular septal defect with aortic insufficiency" EXACT [Orphanet:99094] synonym: "VSD with aortic insufficiency" EXACT [Orphanet:99094] xref: Orphanet:99094 {source="MONDO:equivalentTo"} xref: SCTID:764955006 {source="MONDO:equivalentTo"} xref: UMLS:CN207292 {source="MONDO:equivalentTo"} is_a: MONDO:0018771 {source="Orphanet:99094"} ! congenital anomaly of ventricular septum relationship: has_characteristic MONDO:0021128 ! has an isolated presentation property_value: exactMatch http://identifiers.org/snomedct/764955006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207292 property_value: exactMatch Orphanet:99094 [Term] id: MONDO:0020428 name: congenital Gerbode defect subset: ordo_morphological_anomaly {source="Orphanet:99095"} synonym: "Gerbode defect" EXACT [Orphanet:99095] synonym: "left ventricular-to-right atrial communication" EXACT [Orphanet:99095] xref: Orphanet:99095 {source="MONDO:equivalentTo"} xref: SCTID:204312002 {source="MONDO:equivalentTo"} is_a: EFO:0005269 {source="Orphanet:99095"} ! congenital heart malformation relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch http://identifiers.org/snomedct/204312002 property_value: exactMatch Orphanet:99095 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0020434 name: atrial septal defect, ostium secundum type subset: ordo_clinical_subtype {source="Orphanet:99103"} synonym: "ASD ostium secundum type" RELATED [GARD:0005865] synonym: "ASD, ostium secundum type" EXACT [Orphanet:99103] synonym: "osASD" RELATED [GARD:0005865] synonym: "ostium secundum ASD" RELATED [GARD:0005865] synonym: "ostium secundum atrial septal defect" RELATED [GARD:0005865] xref: MedDRA:10031302 {source="Orphanet:99103", source="Orphanet:99103/e"} xref: MedDRA:10031303 {source="Orphanet:99103", source="Orphanet:99103/e"} xref: Orphanet:99103 {source="MONDO:equivalentTo"} is_a: EFO:1000825 {source="Orphanet:99103"} ! atrial heart septal defect property_value: closeMatch http://identifiers.org/meddra/10031302 property_value: closeMatch http://identifiers.org/meddra/10031303 property_value: exactMatch Orphanet:99103 [Term] id: MONDO:0020435 name: atrial septal defect, coronary sinus type subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:99104"} synonym: "ASD coronary sinus" RELATED [GARD:0010697] synonym: "ASD, coronary sinus type" EXACT [Orphanet:99104] synonym: "atrial septal defect coronary sinus" EXACT [MONDO:0022512] synonym: "coronary sinus atrial septal defects" RELATED [GARD:0010697] synonym: "unroofed coronary sinus" EXACT [Orphanet:99104] xref: ICD9:746.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:99104 {source="MONDO:equivalentTo"} xref: SCTID:40272001 {source="MONDO:equivalentTo"} is_a: EFO:1000825 {source="Orphanet:99104"} ! atrial heart septal defect is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: exactMatch http://identifiers.org/snomedct/40272001 property_value: exactMatch Orphanet:99104 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10697/atrial-septal-defect-coronary-sinus xsd:anyURI {source="GARD:0010697"} [Term] id: MONDO:0020436 name: atrial septal defect, sinus venosus type subset: ordo_clinical_subtype {source="Orphanet:99105"} synonym: "ASD, sinus venosus type" EXACT [Orphanet:99105] synonym: "atrial septal defect sinus venosus" RELATED [GARD:0010696] synonym: "sinus venosus ASD" RELATED [GARD:0010696] synonym: "sinus venosus atrial septal defects" RELATED [GARD:0010696] xref: MESH:C548009 {source="Orphanet:99105", source="MONDO:equivalentTo", source="Orphanet:99105/e"} xref: Orphanet:99105 {source="MONDO:equivalentTo"} xref: SCTID:95268002 {source="MONDO:equivalentTo"} is_a: EFO:1000825 {source="MESH:C548009", source="Orphanet:99105"} ! atrial heart septal defect property_value: exactMatch http://identifiers.org/mesh/C548009 property_value: exactMatch http://identifiers.org/snomedct/95268002 property_value: exactMatch Orphanet:99105 [Term] id: MONDO:0020437 name: atrial septal defect, ostium primum type def: "Atrioventricular septal defect with communication at the atrial level only." [PMID:34304616] subset: ordo_clinical_subtype {source="Orphanet:99106"} synonym: "ASD ostium primum type" EXACT [GARD:0010695] synonym: "ASD, ostium primum type" EXACT [Orphanet:99106] synonym: "atrial septal defect ostium primum" EXACT [GARD:0010695] synonym: "atrioventricular defect with atrial shunting only" EXACT [PMID:34304616] synonym: "incomplete atrioventricular canal defect with isolated atrial component" EXACT [PMID:34304616] synonym: "incomplete atrioventricular septal defect with isolated atrial component" EXACT [PMID:34304616] synonym: "ostium primum ASD" EXACT [GARD:0010695] synonym: "partial atrioventricular canal defect with isolated atrial component" EXACT [PMID:34304616] synonym: "partial atrioventricular septal defect" EXACT [PMID:34304616] synonym: "partial atrioventricular septal defect: ostium primum type" EXACT [PMID:34304616] synonym: "PAVC" EXACT ABBREVIATION [PMID:34304616] synonym: "PAVSD" EXACT ABBREVIATION [] synonym: "primum atrial septal defect" EXACT [PMID:34304616] xref: MESH:C548006 {source="Orphanet:99106", source="MONDO:equivalentObsolete", source="Orphanet:99106/e"} xref: MESH:D006344 {xref="MONDO:equivalentTo"} xref: Orphanet:99106 {source="MONDO:equivalentTo"} xref: SCTID:17718000 {source="MONDO:equivalentTo"} xref: UMLS:C0031192 {source="MONDO:equivalentTo"} is_a: EFO:1000825 {source="MESH:C548006", source="Orphanet:99106"} ! atrial heart septal defect property_value: exactMatch http://identifiers.org/mesh/D006344 property_value: exactMatch http://identifiers.org/snomedct/17718000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031192 property_value: exactMatch Orphanet:99106 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3879 xsd:anyURI [Term] id: MONDO:0020457 name: 6-phosphogluconate dehydrogenase deficiency subset: ordo_disease {source="Orphanet:99135"} xref: OMIM:619199 {source="MONDO:equivalentTo"} xref: Orphanet:99135 {source="MONDO:equivalentTo"} is_a: MONDO:0004139 ! normocytic anemia property_value: exactMatch https://omim.org/entry/619199 property_value: exactMatch Orphanet:99135 [Term] id: MONDO:0020458 name: hemolytic anemia due to erythrocyte adenosine deaminase overproduction def: "Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected." [Orphanet:99138] subset: ordo_disease {source="Orphanet:99138"} synonym: "adenosine deaminase, elevated, hemolytic anaemia due to" EXACT OMO:0003005 [] synonym: "adenosine deaminase, elevated, hemolytic anemia due to" EXACT [OMIM:102730] xref: MESH:C566314 {source="MONDO:equivalentTo"} xref: OMIM:102730 {source="MONDO:equivalentObsolete"} xref: OMIM:301083 {source="MONDO:equivalentTo"} xref: Orphanet:99138 {source="MONDO:equivalentTo"} xref: UMLS:C1863235 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:102730"} xref: UMLS:CN207319 {source="MONDO:equivalentTo"} is_a: EFO:0009529 ! anemia due to enzyme disorder is_a: MONDO:0003689 ! familial hemolytic anemia is_a: MONDO:0019236 {source="Orphanet:99138"} ! inborn disorder of purine metabolism property_value: exactMatch http://identifiers.org/mesh/C566314 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863235 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207319 property_value: exactMatch https://omim.org/entry/301083 property_value: exactMatch Orphanet:99138 [Term] id: MONDO:0020460 name: acquired von willebrand syndrome def: "Acquired von Willebrand syndrome (AVWS) is a bleeding disorder marked by the same biological anomalies as those seen in hereditary von Willebrand disease (VWD) but which occurs in association with another underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies." [Orphanet:99147] subset: gard_rare {source="GARD:0005573"} subset: ordo_disease {source="Orphanet:99147"} synonym: "acquired von Willebrand disease" EXACT [Orphanet:99147] synonym: "acquired von willebrand disease" EXACT [MONDO:patterns/acquired] synonym: "acquired von Willebrand disease (hereditary or acquired)" EXACT [MONDO:patterns/acquired] synonym: "AVWS" EXACT ABBREVIATION [DOID:0111146] synonym: "Willebrand disease, acquired" RELATED [GARD:0005573] xref: DOID:0111146 {source="MONDO:equivalentTo"} xref: MedDRA:10069495 {source="Orphanet:99147", source="Orphanet:99147/e", source="DOID:0111146"} xref: Orphanet:99147 {source="MONDO:equivalentTo", source="DOID:0111146"} xref: PMID:28028990 {source="DOID:0111146"} xref: SCTID:234451005 {source="MONDO:equivalentTo", source="DOID:0111146"} xref: UMLS:C0272362 {source="Orphanet:99147", source="MONDO:equivalentTo", source="Orphanet:99147/e", source="DOID:0111146"} is_a: MONDO:0002243 ! hemorrhagic disease is_a: MONDO:0020599 ! acquired coagulation factor deficiency is_a: MONDO:0024574 ! von Willebrand disease (hereditary or acquired) intersection_of: MONDO:0024574 ! von Willebrand disease (hereditary or acquired) intersection_of: has_characteristic MONDO:0021141 ! acquired relationship: disease_shares_features_of MONDO:0019565 ! hereditary von Willebrand disease property_value: closeMatch http://identifiers.org/meddra/10069495 property_value: exactMatch DOID:0111146 property_value: exactMatch http://identifiers.org/snomedct/234451005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272362 property_value: exactMatch Orphanet:99147 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5573/acquired-von-willebrand-syndrome xsd:anyURI {source="GARD:0005573"} [Term] id: MONDO:0020461 name: epiblepharon subset: ordo_morphological_anomaly {source="Orphanet:99169"} xref: ICD9:743.63 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:99169 {source="MONDO:equivalentTo"} xref: SCTID:253212001 {source="MONDO:equivalentTo"} is_a: MONDO:0020158 {source="Orphanet:99169"} ! eyelids malposition disorder property_value: exactMatch http://identifiers.org/snomedct/253212001 property_value: exactMatch Orphanet:99169 [Term] id: MONDO:0020462 name: tarsal kink syndrome def: "Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery." [Orphanet:99170] subset: ordo_morphological_anomaly {source="Orphanet:99170"} xref: Orphanet:99170 {source="MONDO:equivalentTo"} xref: UMLS:CN207325 {source="MONDO:equivalentTo"} is_a: MONDO:0020159 {source="Orphanet:99170"} ! congenital entropion property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207325 property_value: exactMatch Orphanet:99170 [Term] id: MONDO:0020463 name: isolated congenital ectropion def: "A congenital ectropion that is not part of a larger syndrome." [MONDO:patterns/isolated] subset: ordo_morphological_anomaly {source="Orphanet:99171"} synonym: "nonsyndromic congenital ectropion" EXACT [MONDO:patterns/isolated] xref: Orphanet:99171 {source="MONDO:equivalentTo"} is_a: MONDO:0020161 {source="MONDO:Redundant", source="Orphanet:99171"} ! congenital ectropion intersection_of: MONDO:0020161 ! congenital ectropion intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation relationship: has_characteristic MONDO:0021128 ! has an isolated presentation property_value: exactMatch Orphanet:99171 [Term] id: MONDO:0020464 name: euryblepharon def: "Euryblepharon is a rare congenital eyelid anomaly of unknown etiology characterized by the bilateral horizontal enlargement of the palpebral fissure with vertically shortened eyelids, lateral canthus malpositioning and lateral ectropion. It may be isolated or associated with other ocular anomalies (e.g. strabismus or telecanthus) or systemic anomalies (e.g. blepharo-cheilo-odontic syndrome). In severe cases, it may result in lagophthalmos and exposure keratopathy, requiring surgical treatment." [Orphanet:99172] subset: ordo_morphological_anomaly {source="Orphanet:99172"} xref: Orphanet:99172 {source="MONDO:equivalentTo"} xref: SCTID:400954002 {source="MONDO:equivalentTo"} xref: UMLS:CN207327 {source="MONDO:equivalentTo"} is_a: MONDO:0020161 {source="Orphanet:99172"} ! congenital ectropion property_value: exactMatch http://identifiers.org/snomedct/400954002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207327 property_value: exactMatch Orphanet:99172 [Term] id: MONDO:0020465 name: congenital eyelid retraction def: "Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips." [Orphanet:99176] subset: ordo_morphological_anomaly {source="Orphanet:99176"} xref: Orphanet:99176 {source="MONDO:equivalentTo"} xref: SCTID:715769008 {source="MONDO:equivalentTo"} is_a: EFO:0009547 {source="Orphanet:99176"} ! eyelid disease property_value: exactMatch http://identifiers.org/snomedct/715769008 property_value: exactMatch Orphanet:99176 [Term] id: MONDO:0020466 name: monosomy X subset: ordo_etiological_subtype {source="Orphanet:99226"} synonym: "monosomy type X" EXACT [MONDORULE:1, Orphanet:99226] xref: NCIT:C36630 {source="MONDO:relatedTo", source="MONDO:otherHierarchy"} xref: Orphanet:99226 {source="MONDO:equivalentTo"} xref: SCTID:710008008 {source="MONDO:equivalentTo"} xref: UMLS:CN776902 {source="MONDO:equivalentTo"} is_a: MONDO:0019499 {source="Orphanet:99226"} ! Turner syndrome is_a: MONDO:0020639 {source="https://orcid.org/0000-0002-4142-7153"} ! monosomy is_a: MONDO:0700027 ! chromosome X disorder property_value: exactMatch http://identifiers.org/snomedct/710008008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776902 property_value: exactMatch Orphanet:99226 property_value: relatedMatch NCIT:C36630 [Term] id: MONDO:0020467 name: mosaic monosomy X comment: Editor note: add qualifier for mosaicism subset: ordo_etiological_subtype {source="Orphanet:99228"} synonym: "Mosaic monosomy type X" EXACT [MONDORULE:1, Orphanet:99228] synonym: "Mosaic Turner syndrome" EXACT [PMID:12516330, PMID:29159084] synonym: "XX/XO" EXACT [PMID:12516330, PMID:29159084] xref: Orphanet:99228 {source="MONDO:equivalentTo"} xref: SCTID:710010005 {source="MONDO:equivalentTo"} xref: UMLS:C4040907 {source="MONDO:equivalentTo"} xref: UMLS:CN776903 {source="MONDO:equivalentTo"} is_a: MONDO:0020466 ! monosomy X relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic property_value: exactMatch http://identifiers.org/snomedct/710010005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4040907 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776903 property_value: exactMatch Orphanet:99228 [Term] id: MONDO:0020468 name: paternal uniparental disomy of chromosome 13 def: "Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier." [Orphanet:99324] subset: ordo_malformation_syndrome {source="Orphanet:99324"} synonym: "paternal uniparental disomy of chromosome type 13" EXACT [MONDORULE:2, Orphanet:99324] synonym: "UPD(13)pat" EXACT [Orphanet:99324] xref: Orphanet:99324 {source="MONDO:equivalentTo"} is_a: MONDO:0700020 ! chromosome 13 disorder is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy property_value: exactMatch Orphanet:99324 [Term] id: MONDO:0020469 name: 48,XYYY syndrome def: "48,XYYY syndrome is a rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males." [Orphanet:99329] subset: ordo_malformation_syndrome {source="Orphanet:99329"} synonym: "48,XYYY" RELATED [GARD:0011985] xref: Orphanet:99329 {source="MONDO:equivalentTo"} xref: SCTID:733625003 {source="MONDO:equivalentTo"} xref: UMLS:C4518082 {source="MONDO:equivalentTo"} xref: UMLS:CN207331 {source="MONDO:equivalentTo"} is_a: MONDO:0015620 {source="Orphanet:99329"} ! syndromic urogenital tract malformation is_a: MONDO:0030502 {source="https://orcid.org/0000-0002-4142-7153"} ! tetrasomy is_a: MONDO:0700028 ! chromosome Y disorder property_value: exactMatch http://identifiers.org/snomedct/733625003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518082 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207331 property_value: exactMatch Orphanet:99329 property_value: excluded_subClassOf MONDO:0000508 [Term] id: MONDO:0020470 name: 49,XYYYY syndrome def: "49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults." [Orphanet:99330] subset: ordo_malformation_syndrome {source="Orphanet:99330"} xref: Orphanet:99330 {source="MONDO:equivalentTo"} xref: SCTID:734028007 {source="MONDO:equivalentTo"} xref: UMLS:C4518342 {source="MONDO:equivalentTo"} xref: UMLS:CN207332 {source="MONDO:equivalentTo"} is_a: MONDO:0015161 {source="Orphanet:99330"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0700028 ! chromosome Y disorder is_a: MONDO:0700085 {source="https://orcid.org/0000-0002-4142-7153"} ! pentasomy property_value: exactMatch http://identifiers.org/snomedct/734028007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518342 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207332 property_value: exactMatch Orphanet:99330 [Term] id: MONDO:0020472 name: Turner syndrome due to structural X chromosome anomalies subset: ordo_etiological_subtype {source="Orphanet:99413"} xref: Orphanet:99413 {source="MONDO:equivalentTo"} xref: UMLS:CN207336 {source="MONDO:equivalentTo"} is_a: MONDO:0019499 {source="Orphanet:99413"} ! Turner syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207336 property_value: exactMatch Orphanet:99413 [Term] id: MONDO:0020473 name: dappled diaphyseal dysplasia subset: ordo_disease {source="Orphanet:99645"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:99645 {source="MONDO:equivalentObsolete"} xref: SCTID:389262009 {source="MONDO:equivalentTo"} xref: UMLS:C1300227 {source="Orphanet:99645", source="MONDO:equivalentTo", source="Orphanet:99645/e"} is_a: MONDO:0019701 {source="Orphanet:99645"} ! chondrodysplasia punctata property_value: exactMatch http://identifiers.org/snomedct/389262009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1300227 [Term] id: MONDO:0020474 name: cheirospondyloenchondromatosis def: "Cheirospondyloenchondromatosis is an extremely rare type of enchondromatosis of very early onset (from neonatal period to infancy) characterized by symmetrical multiple enchondromas with metacarpal and phalangeal involvement resulting in short hands and feet, platyspondyly, mild to moderate short stature and intellectual disability." [Orphanet:99647] subset: ordo_disease {source="Orphanet:99647"} synonym: "generalised enchondromatosis with platyspondyly" EXACT OMO:0003005 [] synonym: "generalized enchondromatosis with platyspondyly" EXACT [Orphanet:99647] xref: Orphanet:99647 {source="MONDO:equivalentTo"} xref: SCTID:725104005 {source="MONDO:equivalentTo"} xref: UMLS:C4510810 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="Orphanet:99647"} ! skeletal dysplasia property_value: exactMatch http://identifiers.org/snomedct/725104005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510810 property_value: exactMatch Orphanet:99647 property_value: excluded_subClassOf MONDO:0019708 {source="Orphanet:99647"} [Term] id: MONDO:0020475 name: dermotrichic syndrome comment: Editor note: See PMID:1456297 subset: ordo_malformation_syndrome {source="Orphanet:99688"} xref: Orphanet:99688 {source="MONDO:equivalentTo"} xref: UMLS:CN207344 {source="MONDO:equivalentTo"} is_a: MONDO:0019287 {source="Orphanet:99688"} ! ectodermal dysplasia syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207344 property_value: exactMatch Orphanet:99688 [Term] id: MONDO:0020476 name: mesial temporal lobe epilepsy with hippocampal sclerosis def: "Mesial temporal lobe epilepsy with hippocampal sclerosis is a rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or assymetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioral changes and memory deficits." [Orphanet:99701] subset: ordo_disease {source="Orphanet:99701"} synonym: "MTLE-HS" EXACT [Orphanet:99701] xref: Orphanet:99701 {source="MONDO:equivalentTo"} is_a: MONDO:0017704 {source="Orphanet:99701"} ! familial partial epilepsy property_value: exactMatch Orphanet:99701 [Term] id: MONDO:0020477 name: progeria-associated arthropathy subset: ordo_disease {source="Orphanet:99706"} xref: Orphanet:99706 {source="MONDO:equivalentObsolete"} is_a: EFO:0005755 {source="Orphanet:99706"} ! rheumatic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015940"} ! rare [Term] id: MONDO:0020478 name: Leber plus disease def: "Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." [Orphanet:99718] subset: ordo_disease {source="Orphanet:99718"} synonym: "LHON plus disease" EXACT [Orphanet:99718] xref: DOID:0111754 {source="MONDO:equivalentTo"} xref: ICD10CM:H47.2 {source="MONDO:relatedTo", source="Orphanet:99718/attributed", source="Orphanet:99718/ntbt", source="Orphanet:99718"} xref: Orphanet:99718 {source="MONDO:equivalentTo"} xref: SCTID:719430008 {source="MONDO:equivalentTo"} xref: UMLS:C4304725 {source="MONDO:equivalentTo"} xref: UMLS:CN207347 {source="MONDO:equivalentTo"} is_a: MONDO:0016387 {source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial oxidative phosphorylation disorder property_value: exactMatch DOID:0111754 property_value: exactMatch http://identifiers.org/snomedct/719430008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304725 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207347 property_value: exactMatch Orphanet:99718 property_value: excluded_subClassOf MONDO:0016333 property_value: excluded_subClassOf MONDO:0020249 {source="Orphanet:99718"} [Term] id: MONDO:0020480 name: sulfite oxidase deficiency due to molybdenum cofactor deficiency comment: Editor note: DO class is more general subset: ordo_clinical_subtype {source="Orphanet:99732"} synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase" EXACT [DOID:0111165, Orphanet:99732] synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase" RELATED [GARD:0003705] synonym: "MOCOD" EXACT ABBREVIATION [DOID:0111165, Orphanet:99732] synonym: "molybdenum cofactor deficiency" RELATED [OMIMPS:252150] xref: DOID:0111165 {source="MONDO:equivalentTo"} xref: OMIMPS:252150 {source="MONDO:equivalentTo", source="DOID:0111165"} xref: Orphanet:99732 {source="MONDO:equivalentTo", source="DOID:0111165"} is_a: MONDO:0004689 {source="DOID:0111165"} ! inborn metal metabolism disorder is_a: MONDO:0017760 {source="Orphanet:99732"} ! disorder of other vitamins and cofactors metabolism and transport is_a: MONDO:0019358 {source="Orphanet:99732"} ! encephalopathy due to sulfite oxidase deficiency property_value: exactMatch DOID:0111165 property_value: exactMatch https://omim.org/phenotypicSeries/PS252150 property_value: exactMatch Orphanet:99732 [Term] id: MONDO:0020481 name: myotonia fluctuans def: "Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion." [Orphanet:99734] subset: ordo_disease {source="Orphanet:99734"} synonym: "exercise-induced delayed-onset myotonia" EXACT [Orphanet:99734] synonym: "Fluctuating myotonia" EXACT [Orphanet:99734] synonym: "MF" EXACT ABBREVIATION [NCIT:C122789] xref: NCIT:C122789 {source="MONDO:equivalentTo"} xref: Orphanet:99734 {source="MONDO:equivalentTo"} xref: SCTID:715788001 {source="MONDO:equivalentTo"} xref: UMLS:C0752355 {source="Orphanet:99734", source="MONDO:equivalentTo", source="Orphanet:99734/e", source="NCIT:C122789"} is_a: MONDO:0018959 {source="MONDO:Redundant", source="NCIT:C122789", source="Orphanet:99734"} ! potassium-aggravated myotonia property_value: exactMatch http://identifiers.org/snomedct/715788001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0752355 property_value: exactMatch NCIT:C122789 property_value: exactMatch Orphanet:99734 [Term] id: MONDO:0020482 name: myotonia permanens def: "Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM)." [Orphanet:99735] subset: ordo_disease {source="Orphanet:99735"} xref: Orphanet:99735 {source="MONDO:equivalentTo"} xref: SCTID:715789009 {source="MONDO:equivalentTo"} xref: UMLS:CN207354 {source="MONDO:equivalentTo"} is_a: MONDO:0018959 ! potassium-aggravated myotonia property_value: exactMatch http://identifiers.org/snomedct/715789009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207354 property_value: exactMatch Orphanet:99735 [Term] id: MONDO:0020483 name: acetazolamide-responsive myotonia def: "Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ)." [Orphanet:99736] subset: ordo_disease {source="Orphanet:99736"} synonym: "Acetazolamide-responsive congenital myotonia" EXACT [Orphanet:99736] synonym: "ACZ-responsive congenital myotonia" EXACT [Orphanet:99736] synonym: "ACZ-responsive myotonia" EXACT [Orphanet:99736] synonym: "myotonia-painful contractions syndrome" EXACT [Orphanet:99736] synonym: "painful congenital myotonia" EXACT [Orphanet:99736] synonym: "painful myotonia" EXACT [Orphanet:99736] xref: Orphanet:99736 {source="MONDO:equivalentTo"} xref: SCTID:715793003 {source="MONDO:equivalentTo"} is_a: MONDO:0018959 {source="MONDO:Redundant", source="Orphanet:99736"} ! potassium-aggravated myotonia property_value: exactMatch http://identifiers.org/snomedct/715793003 property_value: exactMatch Orphanet:99736 [Term] id: MONDO:0020484 name: obsolete rare familial disorder with hypertrophic cardiomyopathy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:99739"} synonym: "rare familial disorder with hypertrophic obstructive cardiomyopathy" EXACT [Orphanet:99739] synonym: "rare familial disorder with hypertrophic subaortic stenosis" EXACT [Orphanet:99739] xref: Orphanet:99739 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch Orphanet:99739 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true consider: MESH:D024741 {source="Orphanet:99739", source="Orphanet:99739/e"} [Term] id: MONDO:0020485 name: King-Denborough syndrome def: "A rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use." [Orphanet:99741] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:99741"} synonym: "anesthetic-induced malignant hyperpyrexia in children" RELATED [GARD:0008433] synonym: "King Denborough syndrome" RELATED [GARD:0008433] synonym: "Koussef-Nichols syndrome" EXACT [Orphanet:99741] synonym: "Kousseff Nichols syndrome" RELATED [GARD:0008561] synonym: "Noonan like contracture myopathy hyperpyrexia" RELATED [GARD:0008561, MESH:C537504] xref: MESH:C536883 {source="Orphanet:99741", source="MONDO:equivalentTo", source="Orphanet:99741/e"} xref: MESH:C537504 {source="MONDO:equivalentTo"} xref: OMIM:619542 {source="MONDO:equivalentTo"} xref: Orphanet:99741 {source="MONDO:equivalentTo"} xref: SCTID:764957003 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015160 {source="Orphanet:99741"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0100150 ! RYR1-related myopathy relationship: disease_shares_features_of MONDO:0018997 {source="MESH:C537504-modified"} ! Noonan syndrome property_value: exactMatch http://identifiers.org/mesh/C536883 property_value: exactMatch http://identifiers.org/mesh/C537504 property_value: exactMatch http://identifiers.org/snomedct/764957003 property_value: exactMatch https://omim.org/entry/619542 property_value: exactMatch Orphanet:99741 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8561/kousseff-nichols-syndrome xsd:anyURI {source="GARD:0008561"} [Term] id: MONDO:0020488 name: atypical progressive supranuclear palsy syndrome def: "Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA)." [Orphanet:99750] subset: ordo_clinical_subtype {source="Orphanet:99750"} synonym: "atypical PSP syndrome" EXACT [Orphanet:99750] xref: Orphanet:99750 {source="MONDO:equivalentTo"} is_a: MONDO:0019037 {source="Orphanet:99750"} ! progressive supranuclear palsy property_value: exactMatch Orphanet:99750 [Term] id: MONDO:0020489 name: familial hyperreninemic hypoaldosteronism type 1 subset: ordo_etiological_subtype {source="Orphanet:99763"} synonym: "18-hydroxylase deficiency" EXACT [Orphanet:99763] synonym: "18-oxidase deficiency" EXACT [Orphanet:99763] synonym: "aldosterone synthase deficiency" EXACT [Orphanet:99763] synonym: "CMO I" EXACT [Orphanet:99763] synonym: "CMO II" EXACT [Orphanet:99763] synonym: "corticosterone methyloxidase deficiency type I" EXACT [Orphanet:99763] synonym: "FHHA1" EXACT ABBREVIATION [Orphanet:99763] xref: Orphanet:99763 {source="MONDO:equivalentObsolete"} xref: UMLS:C4289986 {source="MONDO:equivalentTo"} is_a: MONDO:0018541 {source="Orphanet:99763"} ! familial hypoaldosteronism property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4289986 [Term] id: MONDO:0020490 name: mosaic trisomy 9 def: "Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of the body. In people affected by this condition, some of the body's cells have three copies of chromosome 9 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary but may include mild to severe intellectual disability, developmental delay, growth problems (both before and after birth), congenital heart defects, and/or abnormalities of the craniofacial (skull and face) region. Most cases are not inherited; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. Treatment is based on the signs and symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/43/mosaic-trisomy-9] subset: gard_rare {source="GARD:0000043"} subset: ordo_malformation_syndrome {source="Orphanet:99776"} synonym: "Mosaic trisomy chromosome 9" RELATED [GARD:0000043] synonym: "Mosaic trisomy type 9" EXACT [MONDORULE:1, Orphanet:99776] synonym: "trisomy 9 mosaicism" RELATED [GARD:0000043] xref: MESH:C535454 {source="Orphanet:99776", source="MONDO:equivalentTo", source="Orphanet:99776/e"} xref: Orphanet:99776 {source="MONDO:equivalentTo"} xref: SCTID:764989007 {source="MONDO:equivalentTo"} xref: UMLS:CN035918 {source="MONDO:equivalentTo"} is_a: MONDO:0700016 ! chromosome 9 disorder is_a: MONDO:0700065 ! trisomy relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic property_value: exactMatch http://identifiers.org/mesh/C535454 property_value: exactMatch http://identifiers.org/snomedct/764989007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN035918 property_value: exactMatch Orphanet:99776 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/43/mosaic-trisomy-9 xsd:anyURI {source="GARD:0000043"} [Term] id: MONDO:0020491 name: subcortical band heterotopia def: "A developmental brain abnormality characterized by atypical migration of neurons during cortical development." [NCIT:C116933] comment: Editor note: check this hierarchy subset: gard_rare subset: ordo_morphological_anomaly {source="Orphanet:99796"} synonym: "band heterotopia" EXACT [DOID:0111169] synonym: "Double cortex" RELATED [GARD:0001904] synonym: "double cortex syndrome" EXACT [DOID:0111169] synonym: "familial band heterotopia" RELATED [GARD:0002250] synonym: "HeCo" EXACT [DOID:0111169] synonym: "heterotopic cortex" EXACT [DOID:0111169] synonym: "subcortical laminar heterotopia" EXACT [DOID:0111169, Orphanet:99796] xref: DOID:0111169 {source="MONDO:equivalentTo"} xref: NCIT:C116933 {source="MONDO:equivalentTo", source="DOID:0111169"} xref: Orphanet:99796 {source="MONDO:equivalentTo", source="DOID:0111169"} xref: UMLS:C1848201 {source="Orphanet:99796", source="MONDO:equivalentTo", source="Orphanet:99796/e", source="NCIT:C116933", source="DOID:0111169"} xref: UMLS:C4284594 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:cjm", source="NCIT:C116933"} ! syndromic disease is_a: MONDO:0002320 {source="DOID:0111169", source="MONDO:indirect"} ! congenital nervous system disorder property_value: exactMatch DOID:0111169 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848201 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4284594 property_value: exactMatch NCIT:C116933 property_value: exactMatch Orphanet:99796 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2250/familial-band-heterotopia xsd:anyURI {source="GARD:0002250"} [Term] id: MONDO:0020492 name: hemimegalencephaly def: "Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis. Management includes seizure control by antiepileptic medications and early hemispherectomy." [Orphanet:99802] subset: gard_rare {source="GARD:0002637"} subset: ordo_malformation_syndrome {source="Orphanet:99802"} synonym: "macrencephaly" RELATED [GARD:0002637] synonym: "unilateral megalencephaly" EXACT [Orphanet:99802] xref: ICD9:742.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D065705 {source="MONDO:equivalentTo"} xref: NCIT:C177779 {source="MONDO:equivalentTo"} xref: Orphanet:99802 {source="MONDO:equivalentTo"} xref: SCTID:253170008 {source="MONDO:equivalentTo"} xref: UMLS:C0431391 {source="MONDO:equivalentTo", source="Orphanet:99802", source="Orphanet:99802/e"} is_a: MONDO:0016054 {source="Orphanet:99802"} ! cerebral malformation is_a: MONDO:0100283 {source="https://clinicalgenome.org/affiliation/40020/", source="https://github.com/monarch-initiative/mondo/issues/2547"} ! overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes property_value: exactMatch http://identifiers.org/mesh/D065705 property_value: exactMatch http://identifiers.org/snomedct/253170008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431391 property_value: exactMatch NCIT:C177779 property_value: exactMatch Orphanet:99802 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2637/hemimegalencephaly xsd:anyURI {source="GARD:0002637"} [Term] id: MONDO:0020493 name: Haddad syndrome def: "Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease." [Orphanet:99803] subset: ordo_malformation_syndrome {source="Orphanet:99803"} synonym: "congenital central alveolar hypoventilation-Hirschsprung disease syndrome" EXACT [Orphanet:99803] synonym: "Haddad syndrome" EXACT [] synonym: "ondine-Hirschsprung disease" EXACT [Orphanet:99803] synonym: "ondine-Hirschsprung syndrome" EXACT [Orphanet:99803] xref: ICD10CM:G47.3 {source="MONDO:relatedTo", source="Orphanet:99803", source="Orphanet:99803/attributed", source="Orphanet:99803/ntbt"} xref: Orphanet:99803 {source="MONDO:equivalentTo"} xref: SCTID:719972004 {source="MONDO:equivalentTo"} is_a: MONDO:0021189 {source="Orphanet:99803"} ! intestinal motility disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015184"} ! rare property_value: exactMatch http://identifiers.org/snomedct/719972004 property_value: exactMatch Orphanet:99803 [Term] id: MONDO:0020494 name: oculootodental syndrome def: "Oculootodental syndrome is a contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy." [Orphanet:99806] subset: ordo_malformation_syndrome {source="Orphanet:99806"} synonym: "OOD" EXACT ABBREVIATION [Orphanet:99806] xref: Orphanet:99806 {source="MONDO:equivalentTo"} xref: UMLS:C2750325 {source="MONDO:equivalentTo", source="Orphanet:99806"} is_a: MONDO:0016910 {source="Orphanet:99806"} ! partial deletion of the long arm of chromosome 11 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750325 property_value: exactMatch Orphanet:99806 [Term] id: MONDO:0020496 name: familial porencephaly def: "An instance of porencephaly that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: gard_rare {source="GARD:0002258"} subset: ordo_etiological_subtype {source="Orphanet:99810"} synonym: "familial porencephalic white matter disease" RELATED [GARD:0002258] synonym: "hereditary porencephaly" EXACT [MONDO:patterns/hereditary] xref: DOID:0112313 {source="MONDO:equivalentTo"} xref: OMIMPS:175780 {source="MONDO:equivalentTo"} xref: Orphanet:99810 {source="MONDO:equivalentTo"} is_a: MONDO:0017410 {source="MONDO:Redundant", source="Orphanet:99810"} ! porencephaly is_a: MONDO:0018788 ! COL4A1 or COL4A2-related cerebral small vessel disease is_a: MONDO:0957008 ! hereditary cerebral malformation intersection_of: MONDO:0017410 ! porencephaly intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch DOID:0112313 property_value: exactMatch https://omim.org/phenotypicSeries/PS175780 property_value: exactMatch Orphanet:99810 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2258/familial-porencephaly xsd:anyURI {source="GARD:0002258"} [Term] id: MONDO:0020497 name: Turcot syndrome with polyposis def: "Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions." [Orphanet:99818] subset: ordo_clinical_subtype {source="Orphanet:99818"} xref: Orphanet:99818 {source="MONDO:equivalentTo"} xref: UMLS:CN207386 {source="MONDO:equivalentTo"} is_a: MONDO:0016756 {source="Orphanet:99818"} ! inherited nervous system cancer-predisposing syndrome is_a: MONDO:0021055 {source="Orphanet:99818"} ! classic familial adenomatous polyposis is_a: MONDO:0021248 ! nervous system neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207386 property_value: exactMatch Orphanet:99818 [Term] id: MONDO:0020503 name: obsolete resistance to thyrotropin-releasing hormone syndrome property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5106 xsd:anyURI is_obsolete: true replaced_by: MONDO:0032819 [Term] id: MONDO:0020504 name: hereditary recurrent myoglobinuria def: "An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers." [https://orcid.org/0000-0001-5208-3432, Orphanet:99845] subset: ordo_disease {source="Orphanet:99845"} synonym: "genetic recurrent myoglobinuria" EXACT [Orphanet:99845] xref: ICD10CM:R82.1 {source="Orphanet:99845/attributed", source="Orphanet:99845/ntbt", source="MONDO:relatedTo", source="Orphanet:99845"} xref: Orphanet:99845 {source="MONDO:equivalentTo"} xref: SCTID:716721003 {source="MONDO:equivalentTo"} is_a: MONDO:0019052 {source="MONDO:0019602-obsoleted"} ! inborn errors of metabolism property_value: exactMatch http://identifiers.org/snomedct/716721003 property_value: exactMatch Orphanet:99845 property_value: excluded_subClassOf MONDO:0016117 {source="Orphanet:99845"} property_value: excluded_subClassOf MONDO:0018120 {source="Orphanet:99845"} [Term] id: MONDO:0020505 name: ravine syndrome def: "Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies." [Orphanet:99852] subset: ordo_disease {source="Orphanet:99852"} synonym: "progressive encephalopathy with severe infantile anorexia" EXACT [Orphanet:99852] synonym: "Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome" EXACT [Orphanet:99852] xref: Orphanet:99852 {source="MONDO:equivalentTo"} xref: SCTID:715794009 {source="MONDO:equivalentTo"} xref: UMLS:C4275006 {source="MONDO:equivalentTo"} xref: UMLS:CN207401 {source="MONDO:equivalentTo"} is_a: MONDO:0019046 {source="Orphanet:99852"} ! leukodystrophy property_value: exactMatch http://identifiers.org/snomedct/715794009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207401 property_value: exactMatch Orphanet:99852 [Term] id: MONDO:0020506 name: ovarioleukodystrophy comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: obsoletion_candidate subset: ordo_clinical_subtype {source="Orphanet:99853"} xref: Orphanet:99853 {source="MONDO:equivalentTo"} xref: UMLS:C1847967 {source="Orphanet:99853", source="MONDO:equivalentTo"} is_a: MONDO:0800448 {source="Orphanet:99853"} ! leukoencephalopathy with vanishing white matter property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847967 property_value: exactMatch Orphanet:99853 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0020507 name: leukoencephalopathy with vanishing white matter 1 def: "Any leukoencephalopathy with vanishing white matter in which the cause of the disease is a variation in the EIF2B1 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_clinical_subtype {source="Orphanet:99854"} synonym: "CACH" EXACT ABBREVIATION [OMIM:603896] synonym: "childhood ataxia with central nervous system hypomyelinization" EXACT [OMIM:603896] synonym: "Cree leukoencephalopathy" RELATED [Orphanet:99854] synonym: "vanishing white matter leukodystrophy" EXACT [OMIM:603896] xref: DOID:0070374 {xref="MONDO:equivalentTo"} xref: OMIM:603896 {source="MONDO:equivalentTo"} xref: Orphanet:99854 {source="MONDO:equivalentTo"} is_a: MONDO:0800448 {source="OMIM:603896", source="Orphanet:99854"} ! leukoencephalopathy with vanishing white matter property_value: exactMatch DOID:0070374 property_value: exactMatch https://omim.org/entry/603896 property_value: exactMatch Orphanet:99854 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6216 xsd:anyURI [Term] id: MONDO:0020508 name: primary syringomyelia subset: ordo_morphological_anomaly {source="Orphanet:99856"} synonym: "congenital syringomyelia" EXACT [Orphanet:99856] xref: Orphanet:99856 {source="MONDO:equivalentTo"} xref: SCTID:371076006 {source="MONDO:equivalentTo"} xref: UMLS:C1299627 {source="MONDO:equivalentTo"} is_a: MONDO:0017987 {source="Orphanet:99856"} ! syringomyelia property_value: exactMatch http://identifiers.org/snomedct/371076006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1299627 property_value: exactMatch Orphanet:99856 property_value: excluded_subClassOf MONDO:0017085 {source="Orphanet:99856"} [Term] id: MONDO:0020510 name: idiopathic syringomyelia def: "Idiopathic syringomyelia is a rare, non-syndromic central nervous system malformation characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiably cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding." [Orphanet:99858] subset: mondo_rare {source="https://orcid.org/0000-0002-6195-6976"} subset: ordo_clinical_subtype {source="Orphanet:99858"} xref: Orphanet:99858 {source="MONDO:equivalentTo"} xref: SCTID:725001004 {source="MONDO:equivalentTo"} xref: UMLS:C4511700 {source="MONDO:equivalentTo"} is_a: MONDO:0020508 {source="Orphanet:99858"} ! primary syringomyelia is_a: MONDO:0700007 ! idiopathic disease intersection_of: MONDO:0020508 ! primary syringomyelia intersection_of: has_characteristic MONDO:0700005 ! idiopathic relationship: has_characteristic MONDO:0021136 {source="https://orcid.org/0000-0002-6195-6976"} ! rare property_value: exactMatch http://identifiers.org/snomedct/725001004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4511700 property_value: exactMatch Orphanet:99858 [Term] id: MONDO:0020511 name: precursor B-cell acute lymphoblastic leukemia def: "The most frequent type of acute lymphoblastic leukemia. Approximately 75% of cases occur in children under six years of age. This is a good prognosis leukemia. In the pediatric age group the complete remission rate is approximately 95% and the disease free survival rate is 70%. Approximately 80% of children appear to be cured. In the adult age group the complete remission rate is 60-85%. (WHO, 2001)" [NCIT:C8644] subset: ordo_disease {source="Orphanet:99860"} synonym: "acute B cell lymphocytic leukaemia" BROAD OMO:0003005 [] synonym: "acute B cell lymphocytic leukemia" BROAD [NCIT:C8644] synonym: "acute B-cell lymphocytic leukaemia" BROAD OMO:0003005 [] synonym: "acute B-cell lymphocytic leukemia" BROAD [NCIT:C8644] synonym: "B acute lymphoblastic leukaemia" BROAD OMO:0003005 [] synonym: "B acute lymphoblastic leukemia" BROAD [NCIT:C8644] synonym: "B cell acute lymphocytic leukaemia" BROAD OMO:0003005 [] synonym: "B cell acute lymphocytic leukemia" BROAD [NCIT:C8644] synonym: "B cell precursor type acute leukaemia" EXACT OMO:0003005 [] synonym: "B cell precursor type acute leukemia" EXACT [NCIT:C8644] synonym: "B-ALL" BROAD [Orphanet:99860] synonym: "B-cell acute lymphoblastic leukaemia" BROAD OMO:0003005 [] synonym: "B-cell acute lymphoblastic leukemia" BROAD [NCIT:C8644] synonym: "B-cell acute lymphocytic leukaemia" BROAD OMO:0003005 [] synonym: "B-cell acute lymphocytic leukemia" BROAD [NCIT:C8644] synonym: "B-cell lymphoblastic leukaemia" BROAD OMO:0003005 [] synonym: "B-cell lymphoblastic leukemia" BROAD [NCIT:C8644] synonym: "B-cell precursor type acute leukaemia" EXACT OMO:0003005 [] synonym: "B-cell precursor type acute leukemia" EXACT [NCIT:C8644] synonym: "B-cell type acute leukaemia" BROAD OMO:0003005 [] synonym: "B-cell type acute leukemia" BROAD [NCIT:C8644] synonym: "B-precursor ALL" EXACT [NCIT:C8644] synonym: "precursor B-cell acute lymphoblastic leukemia/lymphoma" EXACT [Orphanet:99860] synonym: "precursor B-cell acute lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "precursor B-cell acute lymphocytic leukemia" EXACT [Orphanet:99860] synonym: "precursor B-cell acute lymphocytic leukemia/lymphoma" EXACT [Orphanet:99860] synonym: "precursor B-lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "precursor B-lymphoblastic leukaemia (B-precursor ALL)" EXACT OMO:0003005 [] synonym: "precursor B-lymphoblastic leukemia" EXACT [NCIT:C8644] synonym: "precursor B-lymphoblastic leukemia (B-precursor ALL)" EXACT [NCIT:C8644] xref: DOID:0080638 {source="MONDO:equivalentTo"} xref: ICDO:9836/3 {source="NCIT:C8644"} xref: NCIT:C8644 {source="MONDO:equivalentTo"} xref: Orphanet:99860 {source="MONDO:equivalentTo"} xref: UMLS:C0006413 {source="MONDO:directSiblingOf", source="Orphanet:99860"} is_a: EFO:0000220 {source="NCIT:C8644", source="Orphanet:99860"} ! acute lymphoblastic leukemia is_a: MONDO:0017595 {source="Orphanet:99860"} ! aggressive B-cell non-Hodgkin lymphoma property_value: exactMatch DOID:0080638 property_value: exactMatch NCIT:C8644 property_value: exactMatch Orphanet:99860 [Term] id: MONDO:0020513 name: spermatocytic seminoma def: "A rare variant of seminoma characterized by the presence of three cell types: round cells with eosinophilic cytoplasm, small cells with dark nucleus and a small amount of cytoplasm, and mono-or multinucleated giant cells. The neoplastic cells are not cohesive. There is an edematous stroma present; lymphocytic infiltrates are rarely seen. Most patients are older males." [NCIT:C39921] subset: ordo_disease {source="Orphanet:99865"} synonym: "spermatocytic seminoma" EXACT [NCIT:C39921] synonym: "spermatocytoma" RELATED [DOID:5834] synonym: "testicular spermatocytic seminoma" EXACT [MONDO:0004388, NCIT:C39921] xref: DOID:5834 {source="MONDO:equivalentTo"} xref: DOID:7891 {source="MONDO:equivalentTo"} xref: ICDO:9063/3 {source="NCIT:C39921"} xref: NCIT:C39921 {source="DOID:5834", source="MONDO:equivalentTo"} xref: Orphanet:99865 {source="MONDO:equivalentTo"} xref: UMLS:C0334517 {source="Orphanet:99865", source="DOID:5834", source="MONDO:equivalentTo", source="Orphanet:99865/e", source="NCIT:C39921"} is_a: EFO:0003101 {source="DOID:7891", source="NCIT:C39921"} ! testicular seminoma property_value: exactMatch DOID:5834 property_value: exactMatch DOID:7891 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334517 property_value: exactMatch NCIT:C39921 property_value: exactMatch Orphanet:99865 property_value: excluded_subClassOf MONDO:0003667 {source="DOID:7891"} [Term] id: MONDO:0020516 name: thymic neuroendocrine carcinoma def: "Thymic neuroendocrine carcinoma is a type of thymic epithelial neoplasm displaying evidence of neuroendocrine differentiation." [Orphanet:99869] subset: ordo_disease {source="Orphanet:99869"} synonym: "neuroendocrine carcinoma of thymus" EXACT [] synonym: "thymic neuroendocrine carcinoma" EXACT [] synonym: "thymus neuroendocrine carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: NCIT:C171031 {source="MONDO:equivalentTo"} xref: Orphanet:99869 {source="MONDO:equivalentTo"} xref: SCTID:716653001 {source="MONDO:equivalentTo"} xref: UMLS:C2210965 {source="MONDO:equivalentTo"} xref: UMLS:CN207412 {source="MONDO:equivalentTo"} is_a: EFO:1000576 ! Thymic Carcinoma is_a: MONDO:0002120 ! neuroendocrine carcinoma is_a: MONDO:0019964 ! thymic neuroendocrine tumor property_value: exactMatch http://identifiers.org/snomedct/716653001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2210965 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207412 property_value: exactMatch NCIT:C171031 property_value: exactMatch Orphanet:99869 [Term] id: MONDO:0020521 name: Ehlers-Danlos syndrome type 7A subset: ordo_etiological_subtype {source="Orphanet:99875"} synonym: "EDS VIIA" EXACT [Orphanet:99875] xref: Orphanet:99875 {source="MONDO:equivalentObsolete"} xref: UMLS:CN207418 {source="MONDO:equivalentTo"} is_a: MONDO:0007525 {source="Orphanet:99875"} ! Ehlers-Danlos syndrome, arthrochalasis type property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207418 [Term] id: MONDO:0020522 name: Ehlers-Danlos syndrome type 7B subset: ordo_etiological_subtype {source="Orphanet:99876"} synonym: "EDS VIIB" EXACT [GTR:AN1112965, Orphanet:99876] synonym: "EDSARTH2" RELATED ABBREVIATION [GTR:AN1112967] synonym: "Ehlers-Danlos syndrome, arthrochalasia type, 2" RELATED [GTR:AN1112503] synonym: "Ehlers-Danlos syndrome, type VIIB, autosomal dominant" RELATED [GTR:AN1112966] xref: GTR:AN1112503 xref: GTR:AN1112965 xref: GTR:AN1112966 xref: GTR:AN1112967 xref: MESH:C565061 {source="MONDO:equivalentTo"} xref: Orphanet:99876 {source="MONDO:equivalentObsolete"} xref: UMLS:C1851801 {source="Orphanet:99876", source="MONDO:equivalentTo"} xref: UMLS:CN706304 {source="MONDO:equivalentTo"} is_a: MONDO:0007525 {source="Orphanet:99876"} ! Ehlers-Danlos syndrome, arthrochalasis type property_value: exactMatch http://identifiers.org/mesh/C565061 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851801 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN706304 [Term] id: MONDO:0020523 name: familial parathyroid adenoma def: "An instance of parathyroid gland adenoma that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: ordo_disease {source="Orphanet:99877"} synonym: "hereditary parathyroid gland adenoma" EXACT [MONDO:patterns/hereditary] xref: Orphanet:99877 {source="MONDO:equivalentObsolete"} xref: UMLS:C1840403 {source="Orphanet:99877", source="MONDO:equivalentTo", source="Orphanet:99877/e"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:1001087 ! parathyroid adenoma intersection_of: EFO:1001087 ! parathyroid adenoma intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840403 [Term] id: MONDO:0020524 name: primary parathyroid hyperplasia comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: obsoletion_candidate subset: ordo_disease {source="Orphanet:99878"} synonym: "familial parathyroids hyperplasia" EXACT [Orphanet:99878] synonym: "hereditary parathyroids hyperplasia" RELATED [Orphanet:99878] xref: Orphanet:99878 {source="MONDO:equivalentObsolete"} is_a: MONDO:0016365 {source="Orphanet:99878"} ! familial primary hyperparathyroidism property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0020525 name: transient neonatal diabetes mellitus def: "Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients." [Orphanet:99886] subset: ordo_disease {source="Orphanet:99886"} synonym: "chromosome 6-associated transient diabetes mellitus" RELATED [GARD:0001839] synonym: "diabetes mellitus, 6q24-related transient neonatal" RELATED [GARD:0001839] synonym: "diabetes mellitus, transient neonatal" RELATED [GARD:0001839] synonym: "TNDM" EXACT ABBREVIATION [Orphanet:99886] synonym: "transient neonatal diabetes mellitus" EXACT [MONDO:ambiguous] synonym: "transient neonatal diabetes mellitus (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0060334 {source="MONDO:equivalentTo"} xref: HP:0008255 {source="MONDO:otherHierarchy"} xref: NCIT:C114899 {source="MONDO:equivalentTo"} xref: SCTID:237603002 {source="MONDO:equivalentTo"} is_a: MONDO:0016391 {source="DOID:0060334", source="MONDO:Redundant", source="NCIT:C114899", source="Orphanet:99886"} ! neonatal diabetes mellitus property_value: exactMatch DOID:0060334 property_value: exactMatch http://identifiers.org/snomedct/237603002 property_value: exactMatch NCIT:C114899 property_value: IAO:0000589 "transient neonatal diabetes mellitus (disease)" xsd:string [Term] id: MONDO:0020526 name: acute megakaryoblastic leukemia in down syndrome subset: ordo_clinical_subtype {source="Orphanet:99887"} synonym: "DS-AMKL" EXACT [Orphanet:99887] xref: Orphanet:99887 {source="MONDO:equivalentTo"} xref: UMLS:CN207426 {source="MONDO:equivalentTo"} is_a: EFO:0003025 {source="Orphanet:99887"} ! acute megakaryoblastic leukaemia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207426 property_value: exactMatch Orphanet:99887 [Term] id: MONDO:0020530 name: Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency def: "Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM)." [Orphanet:99898] subset: ordo_disease {source="Orphanet:99898"} subset: predisposition synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IFNGR1" EXACT [] synonym: "IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "IFNGR1 deficiency" RELATED [GARD:0003011] synonym: "interferon gamma, receptor 1, deficiency" RELATED [GARD:0003011] synonym: "Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency" EXACT [Orphanet:99898] synonym: "MSMD due to complete IFNgammaR1 deficiency" EXACT [Orphanet:99898] synonym: "MSMD due to complete interferon gamma receptor 1 deficiency" EXACT [Orphanet:99898] xref: MESH:C535530 {source="Orphanet:99898", source="MONDO:equivalentTo", source="Orphanet:99898/e"} xref: Orphanet:99898 {source="MONDO:equivalentTo"} xref: UMLS:C2930924 {source="Orphanet:99898", source="MONDO:equivalentTo", source="Orphanet:99898/e"} is_a: MONDO:0019146 ! inherited susceptibility to mycobacterial diseases property_value: exactMatch http://identifiers.org/mesh/C535530 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930924 property_value: exactMatch Orphanet:99898 [Term] id: MONDO:0020531 name: long chain acyl-CoA dehydrogenase deficiency def: "A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy." [NCIT:C84537] subset: ordo_disease {source="Orphanet:99900"} synonym: "ACADL deficiency" RELATED [GARD:0009700] synonym: "acyl-CoA dehydrogenase, long-chain deficiency" EXACT [NCIT:C84537] synonym: "inborn error of long-chain-acyl-CoA dehydrogenase activity" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn long-chain-acyl-CoA dehydrogenase activity disorder" EXACT [] synonym: "LCAD" EXACT ABBREVIATION [Orphanet:99900] synonym: "LCAD deficiency" RELATED [GARD:0009700] synonym: "long chain acyl-CoA dehydrogenase deficiency" EXACT [] synonym: "long-chain acyl-CoA dehydrogenase deficiency" EXACT [NCIT:C84537] synonym: "long-chain acyl-Coenzyme A dehydrogenase deficiency" EXACT [NCIT:C84537] synonym: "rare inborn error of long-chain-acyl-CoA dehydrogenase activity" EXACT [MONDO:patterns/inborn_metabolic] xref: MESH:C535690 {source="Orphanet:99900", source="MONDO:equivalentTo", source="Orphanet:99900/e"} xref: NCIT:C84537 {source="MONDO:equivalentTo"} xref: Orphanet:99900 {source="MONDO:equivalentObsolete"} xref: SCTID:237996001 {source="MONDO:equivalentTo"} xref: UMLS:C0220711 {source="NCIT:C84537", source="Orphanet:99900", source="MONDO:equivalentTo", source="Orphanet:99900/e"} is_a: MONDO:0017713 ! disorder of fatty acid oxidation and ketogenesis is_a: MONDO:0024573 ! familial hypertrophic cardiomyopathy property_value: exactMatch http://identifiers.org/mesh/C535690 property_value: exactMatch http://identifiers.org/snomedct/237996001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220711 property_value: exactMatch NCIT:C84537 [Term] id: MONDO:0020537 name: occupational allergic alveolitis def: "Occupational allergic alveolitis designates a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her occupational environment. Symptoms vary depending on the antigen and the form (acute, subacute, chronic) of the disease. They may be cough, dyspnea, chills, fever, weight loss, loss of appetite and general malaise" [Orphanet:99909] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:99909"} xref: Orphanet:99909 {source="MONDO:equivalentTo"} is_a: MONDO:0017853 {source="Orphanet:99909"} ! hypersensitivity pneumonitis is_a: MONDO:0022736 {source="https://github.com/monarch-initiative/mondo/issues/1639", source="https://orcid.org/0000-0001-5208-3432"} ! occupational lung disease property_value: exactMatch Orphanet:99909 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0020539 name: extragonadal non-dysgerminomatous germ cell tumor subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:99913"} xref: Orphanet:99913 {source="MONDO:equivalentTo"} xref: UMLS:CN207440 {source="MONDO:equivalentTo"} is_a: MONDO:0018201 {source="MONDO:Redundant", source="Orphanet:99913"} ! extragonadal germ cell tumor is_a: MONDO:0021656 {source="MONDO:Redundant", source="MONDO:cjm"} ! nongerminomatous germ cell tumor intersection_of: MONDO:0018201 ! extragonadal germ cell tumor intersection_of: MONDO:0021656 ! nongerminomatous germ cell tumor property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207440 property_value: exactMatch Orphanet:99913 [Term] id: MONDO:0020547 name: chronic graft versus host disease def: "Chronic graft versus host disease (GVHD) is a complication that can occur after a stem cell or bone marrow transplant in which the newly transplanted donor cells attack the transplant recipient's body. Symptoms may include skin rash, mouth sores, dry eyes, liver inflammation, development of scar tissue in the skin and joints, and damage to the lungs. The exact cause of chronic GVHD is unknown.It likely results from a complex immune-mediated interaction between the donor and recipient cells.Chronic GVHD is treated with prednisone or other similar anti-inflammatory or immunosuppressive medications." [https://rarediseases.info.nih.gov/diseases/10964/chronic-graft-versus-host-disease] subset: gard_rare {source="GARD:0010964"} subset: ordo_clinical_subtype {source="Orphanet:99921"} synonym: "chronic GVHD" RELATED [GARD:0010964] synonym: "graft versus host disease, chronic" EXACT [MONDO:patterns/chronic] synonym: "GVHD, chronic" EXACT [NCIT:C4981] xref: ICD10CM:D89.811 {source="MONDO:equivalentTo"} xref: ICD9:279.52 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10066261 {source="Orphanet:99921", source="Orphanet:99921/e"} xref: NCIT:C4981 {source="MONDO:equivalentTo"} xref: Orphanet:99921 {source="MONDO:equivalentTo"} xref: SCTID:402356004 {source="MONDO:equivalentTo"} xref: UMLS:C0867389 {source="Orphanet:99921", source="MONDO:equivalentTo", source="NCIT:C4981", source="Orphanet:99921/e"} is_a: MONDO:0013730 {source="MONDO:Redundant", source="NCIT:C4981", source="Orphanet:99921"} ! graft versus host disease property_value: closeMatch http://identifiers.org/meddra/10066261 property_value: exactMatch http://identifiers.org/snomedct/402356004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0867389 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D89.811 property_value: exactMatch NCIT:C4981 property_value: exactMatch Orphanet:99921 property_value: gwas:trait "true" xsd:boolean property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10964/chronic-graft-versus-host-disease xsd:anyURI {source="GARD:0010964"} [Term] id: MONDO:0020550 name: gestational choriocarcinoma def: "Gestational choriocarcinoma is a gestational trophoblastic tumor (GTT) occurring secondary to pregnancy (ectopic or normal), miscarriage, voluntary termination of pregnancy (VTP) or a hydatidiform mole." [Orphanet:99926] subset: ordo_disease {source="Orphanet:99926"} synonym: "gestational choriocarcinoma" EXACT [NCIT:C4646] synonym: "gestational choriocarcinoma (morphologic abnormality)" EXACT [DOID:2025] synonym: "gestational chorionepithelioma" EXACT [DOID:2025] synonym: "molar pregnancy with choriocarcinoma" EXACT [DOID:2025] xref: DOID:2025 {source="MONDO:equivalentTo"} xref: ICD9:181 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C4646 {source="DOID:2025", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: Orphanet:99926 {source="MONDO:equivalentTo"} xref: SCTID:417570003 {source="DOID:2025", source="MONDO:equivalentTo"} xref: UMLS:C0349557 {source="DOID:2025", source="MONDO:equivalentTo", source="Orphanet:99926", source="NCIT:C4646", source="Orphanet:99926/e"} is_a: EFO:0002893 {source="DOID:2025", source="NCIT:C4646"} ! choriocarcinoma is_a: EFO:1001331 {source="DOID:2025/inferred", source="MONDO:Redundant", source="NCIT:C4646"} ! Genital neoplasm, female is_a: MONDO:0003578 ! extragonadal nonseminomatous germ cell tumor is_a: MONDO:0018944 {source="NCIT:C4646", source="Orphanet:99926"} ! gestational trophoblastic neoplasm property_value: exactMatch DOID:2025 property_value: exactMatch http://identifiers.org/snomedct/417570003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349557 property_value: exactMatch NCIT:C4646 property_value: exactMatch Orphanet:99926 [Term] id: MONDO:0020558 name: autosomal dominant Charcot-Marie-Tooth disease type 2K def: "Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy." [Orphanet:99944] subset: ordo_disease {source="Orphanet:99944"} synonym: "Charcot-Marie-Tooth disease type 2K" EXACT [NCIT:C133886] synonym: "CMT2K" EXACT ABBREVIATION [Orphanet:99944] xref: NCIT:C133886 {source="MONDO:equivalentTo"} xref: Orphanet:99944 {source="MONDO:equivalentTo"} xref: SCTID:719512003 {source="MONDO:equivalentTo"} xref: UMLS:C1842983 {source="Orphanet:99944", source="NCIT:C133886", source="MONDO:directSiblingOf"} xref: UMLS:C1842984 {source="Orphanet:99944", source="MONDO:equivalentTo"} xref: UMLS:CN207468 {source="MONDO:equivalentTo"} is_a: MONDO:0018993 {source="Orphanet:99944"} ! Charcot-Marie-Tooth disease type 2 property_value: exactMatch http://identifiers.org/snomedct/719512003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842984 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207468 property_value: exactMatch NCIT:C133886 property_value: exactMatch Orphanet:99944 [Term] id: MONDO:0020561 name: myxoid/round cell liposarcoma def: "Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS." [Orphanet:99967] subset: ordo_histopathological_subtype {source="Orphanet:99967"} synonym: "MRCLS" EXACT ABBREVIATION [Orphanet:99967] synonym: "myxoid/round-cell liposarcoma" EXACT [ONCOTREE:MRLS] xref: ONCOTREE:MRLS {source="MONDO:equivalentTo"} xref: Orphanet:99967 {source="MONDO:equivalentTo"} is_a: EFO:0000569 {source="ONCOTREE:MRLS", source="Orphanet:99967"} ! liposarcoma property_value: exactMatch Orphanet:99967 [Term] id: MONDO:0020569 name: intermediate DEND syndrome def: "Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome, a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy." [Orphanet:99989] subset: ordo_clinical_subtype {source="Orphanet:99989"} synonym: "developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form" EXACT [Orphanet:99989] xref: Orphanet:99989 {source="MONDO:equivalentTo"} xref: UMLS:CN207495 {source="MONDO:equivalentTo"} is_a: MONDO:0019207 {source="Orphanet:99989"} ! DEND syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207495 property_value: exactMatch Orphanet:99989 [Term] id: MONDO:0020573 name: inherited disease susceptibility def: "A latent susceptibility to disease at the genetic level, which may be activated under certain conditions." [MESH:D020022] subset: predisposition synonym: "genetic predisposition" RELATED [MESH:D020022] synonym: "genetic predispositions" RELATED [MESH:D020022] synonym: "genetic susceptibilities" RELATED [MESH:D020022] synonym: "genetic susceptibility" RELATED [MESH:D020022] synonym: "hereditary disease susceptibility" EXACT [MONDO:patterns/hereditary] synonym: "hereditary predisposition to disease" EXACT [MONDO:patterns/hereditary] synonym: "predisposition, genetic" RELATED [MESH:D020022] synonym: "predispositions, genetic" RELATED [MESH:D020022] synonym: "susceptibilities, genetic" RELATED [MESH:D020022] synonym: "susceptibility, genetic" RELATED [MESH:D020022] xref: ICD10CM:Z15 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: MESH:D020022 {source="MONDO:equivalentTo"} is_a: MONDO:0042489 ! disease susceptibility intersection_of: MONDO:0042489 {source="MESH:D020022"} ! disease susceptibility intersection_of: has_characteristic MONDO:0021152 {source="MESH:D020022"} ! inherited relationship: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/mesh/D020022 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Z15 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-6601-2165 creation_date: 2017-09-30T12:01:25Z [Term] id: MONDO:0020574 name: central nervous system nongerminomatous germ cell tumor def: "Germ cell tumors of the central nervous system other than germinoma. This category includes teratoma, choriocarcinoma, embryonal carcinoma, and yolk sac tumor." [NCIT:C100093] synonym: "central nervous system nongerminomatous germ cell tumor" EXACT [NCIT:C100093] synonym: "nongerminomatous GCT - CNS" EXACT [NCIT:C100093] synonym: "nongerminomatous germ cell tumor of the CNS" EXACT [NCIT:C100093] synonym: "nongerminomatous germ cell tumour of the CNS" EXACT OMO:0003005 [] xref: NCIT:C100093 {source="MONDO:equivalentTo"} xref: UMLS:C1696109 {source="MONDO:equivalentTo"} is_a: MONDO:0003000 {source="NCIT:C100093"} ! central nervous system germ cell tumor is_a: MONDO:0020539 ! extragonadal non-dysgerminomatous germ cell tumor property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1696109 property_value: exactMatch NCIT:C100093 [Term] id: MONDO:0020575 name: polymorphic ventricular tachycardia def: "A ventricular tachycardia that is irregular in rate and rhythm." [NCIT:C111648] synonym: "polymorphic ventricular tachycardia" EXACT [NCIT:C111648] synonym: "ventricular tachycardia, polymorphic" EXACT [] xref: HP:0031677 xref: NCIT:C111648 {source="MONDO:equivalentTo"} xref: SCTID:251159007 {source="MONDO:equivalentTo"} xref: UMLS:C0344432 {source="MONDO:equivalentTo"} is_a: EFO:0005306 {source="HP:0031677", source="NCIT:C111648"} ! ventricular tachycardia property_value: exactMatch http://identifiers.org/snomedct/251159007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0344432 property_value: exactMatch NCIT:C111648 [Term] id: MONDO:0020580 name: germinomatous germ cell tumor def: "A term that refers to germinoma, seminoma, or dysgerminoma." [NCIT:C121618] synonym: "germinomatous germ cell tumor" EXACT [NCIT:C121618] xref: NCIT:C121618 {source="MONDO:equivalentTo"} xref: UMLS:C4054897 {source="NCIT:C121618", source="MONDO:equivalentTo"} is_a: EFO:0000514 {source="NCIT:C121618"} ! germ cell tumor disjoint_from: MONDO:0021656 ! nongerminomatous germ cell tumor property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4054897 property_value: exactMatch NCIT:C121618 [Term] id: MONDO:0020583 name: chromosome 17 disorder def: "Chromosomal disorder in which chromosome 17 is affected." [MONDO:patterns/chromosome_type] synonym: "chromosome 17 abnormality" RELATED [NCIT:C129438] xref: NCIT:C129438 {source="MONDO:relatedTo"} is_a: MONDO:0020049 {source="https://orcid.org/0000-0002-4142-7153"} ! autosomal anomaly property_value: relatedMatch NCIT:C129438 [Term] id: MONDO:0020585 name: anemia due to erythrocyte enzyme disorder def: "Any form of anemia that results from the absence of, or the defective action of, any enzyme involved in erythropoiesis." [NCIT:C131630] synonym: "anemia due to erythrocyte enzyme disorder" EXACT [NCIT:C131630] xref: NCIT:C131630 {source="MONDO:equivalentTo"} xref: UMLS:C4329304 {source="MONDO:equivalentTo"} is_a: EFO:0009529 {source="NCIT:C131630"} ! anemia due to enzyme disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4329304 property_value: exactMatch NCIT:C131630 [Term] id: MONDO:0020586 name: factor V deficiency def: "A coagulation disorder characterized by the partial or complete absence of factor V activity in the blood." [NCIT:C131738] synonym: "factor V deficiency" EXACT [NCIT:C131738] xref: MESH:D005166 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: NCIT:C131738 {source="MONDO:equivalentTo"} xref: SCTID:4320005 {source="MONDO:equivalentTo"} is_a: MONDO:0002242 ! coagulation protein disease property_value: exactMatch http://identifiers.org/mesh/D005166 property_value: exactMatch http://identifiers.org/snomedct/4320005 property_value: exactMatch NCIT:C131738 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5537 xsd:anyURI [Term] id: MONDO:0020587 name: factor XI deficiency def: "A coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood." [NCIT:C131739] synonym: "factor XI deficiency" EXACT [NCIT:C131739] xref: MESH:D005173 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: NCIT:C131739 {source="MONDO:equivalentTo"} xref: SCTID:767713001 {source="MONDO:equivalentTo"} is_a: MONDO:0018660 {source="NCIT:C131739"} ! hemophilia property_value: exactMatch http://identifiers.org/mesh/D005173 property_value: exactMatch http://identifiers.org/snomedct/767713001 property_value: exactMatch NCIT:C131739 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5537 xsd:anyURI [Term] id: MONDO:0020588 name: lung PEComa def: "A lung tumor that arises from perivascular epithelioid cells (PECs)." [NCIT:C142783] synonym: "lung PEComa" EXACT [NCIT:C142783] synonym: "lung pecomatous tumor" EXACT [NCIT:C142783] synonym: "lung pecomatous tumour" EXACT OMO:0003005 [] xref: NCIT:C142783 {source="MONDO:equivalentTo"} is_a: EFO:1000464 {source="NCIT:C142783"} ! PEComa is_a: MONDO:0021117 ! lung neoplasm property_value: exactMatch NCIT:C142783 [Term] id: MONDO:0020590 name: mycobacterial infectious disease def: "Infection due to organisms from the genus Mycobacteria." [NCIT:C26831] synonym: "mycobacterial infection" EXACT [NCIT:C26831] synonym: "mycobacteriosis" EXACT [] synonym: "mycobacterium infection" EXACT [NCIT:C26831] xref: MESH:D009164 {source="MONDO:equivalentTo"} xref: NCIT:C26831 {source="MONDO:equivalentTo"} xref: SCTID:88415009 {source="MONDO:equivalentTo"} xref: UMLS:C0026918 {source="MONDO:equivalentTo"} is_a: EFO:0000771 {source="NCIT:C26831"} ! bacterial disease property_value: exactMatch http://identifiers.org/mesh/D009164 property_value: exactMatch http://identifiers.org/snomedct/88415009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026918 property_value: exactMatch NCIT:C26831 [Term] id: MONDO:0020592 name: disorder of pharynx def: "A non-neoplastic or neoplastic disorder that affects the pharynx. Representative examples include pharyngitis and carcinoma." [NCIT:C26850] synonym: "chordate pharynx disease" EXACT [] synonym: "chordate pharynx disease or disorder" EXACT [MONDO:patterns/location] synonym: "disease of chordate pharynx" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of chordate pharynx" EXACT [] synonym: "disorder of chordate pharynx" EXACT [MONDO:patterns/location_top] synonym: "pharyngeal disease" EXACT [] synonym: "pharyngeal disorder" EXACT [NCIT:C26850] xref: NCIT:C26850 {source="MONDO:equivalentTo"} xref: SCTID:75860007 {source="MONDO:equivalentTo"} is_a: EFO:0000684 ! respiratory system disease is_a: MONDO:0024623 {source="NCIT:C26850"} ! otorhinolaryngologic disease property_value: exactMatch http://identifiers.org/snomedct/75860007 property_value: exactMatch NCIT:C26850 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0020593 name: trichoblastoma def: "A benign hair follicle neoplasm with trichoblastic differentiation. It usually presents as a solitary papular lesion It most often presents on the head and neck area, but it may develop in any anatomic site containing hair follicles. Because of its benign nature, treatment usually is not required, provided that the diagnosis has been established with certainty." [NCIT:C27132] synonym: "Brooke's tumor" EXACT [NCIT:C27132] synonym: "Brooke's tumour" EXACT OMO:0003005 [] synonym: "trichoblastoma" EXACT [NCIT:C27132] synonym: "trichoepithelioma" EXACT [NCIT:C27132] synonym: "trichoepithelioma, benign" EXACT [NCIT:C27132] synonym: "trichogenic adnexal tumor" EXACT [NCIT:C27132] synonym: "trichogenic adnexal tumour" EXACT OMO:0003005 [] synonym: "trichogenic trichoblastoma" EXACT [NCIT:C27132] xref: ICDO:8100/0 {source="NCIT:C27132"} xref: NCIT:C27132 {source="MONDO:equivalentTo"} is_a: MONDO:0024666 ! benign epithelial skin neoplasm property_value: exactMatch NCIT:C27132 [Term] id: MONDO:0020595 name: obsolete disorder of retroperitoneum def: "OBSOLETE. A disease or disorder that involves the retroperitoneal space." [MONDO:patterns/location] comment: Reason: grouping class specific to autosomal disorder. Term to consider: none. synonym: "disease of retroperitoneal space" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of retroperitoneal space" EXACT [] synonym: "disorder of retroperitoneal space" EXACT [MONDO:patterns/location_top] synonym: "retroperitoneal disease" EXACT [NCIT:C27667] synonym: "retroperitoneal disorder" EXACT [NCIT:C27667] synonym: "retroperitoneal space disease" EXACT [] synonym: "retroperitoneal space disease or disorder" EXACT [MONDO:patterns/location] xref: NCIT:C27667 {source="MONDO:obsoleteEquivalent"} xref: SCTID:734045002 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://identifiers.org/snomedct/734045002 property_value: exactMatch NCIT:C27667 property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingMorpho"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4621 xsd:anyURI is_obsolete: true [Term] id: MONDO:0020596 name: mucin-producing carcinoma synonym: "mucin-producing carcinoma" EXACT [NCIT:C27825] xref: NCIT:C27825 {source="MONDO:equivalentTo"} is_a: EFO:0000313 {source="NCIT:C27825"} ! carcinoma is_a: MONDO:0024338 {source="MONDO:cjm"} ! mucinous neoplasm intersection_of: EFO:0000313 ! carcinoma intersection_of: MONDO:0024338 ! mucinous neoplasm property_value: exactMatch NCIT:C27825 [Term] id: MONDO:0020599 name: acquired coagulation factor deficiency def: "Deficiency of a coagulation factor that is not caused by genetic alterations. Causes include vitamin K deficiency, amyloidosis, and severe liver disease." [NCIT:C34347] synonym: "acquired coagulation factor deficiency" EXACT [NCIT:C34347] synonym: "acquired coagulation protein disease" EXACT [MONDO:patterns/acquired] xref: NCIT:C34347 {source="MONDO:equivalentTo"} xref: SCTID:25904003 {source="MONDO:equivalentTo"} xref: UMLS:C0001169 {source="MONDO:equivalentTo"} is_a: MONDO:0002242 {source="NCIT:C34347"} ! coagulation protein disease intersection_of: MONDO:0002242 ! coagulation protein disease intersection_of: has_characteristic MONDO:0021141 ! acquired relationship: has_characteristic MONDO:0021141 ! acquired property_value: exactMatch http://identifiers.org/snomedct/25904003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001169 property_value: exactMatch NCIT:C34347 [Term] id: MONDO:0020601 name: mosquito-borne viral encephalitis def: "Viral encephalitis that is transmitted by mosquitos." [NCIT:C34823] synonym: "mosquito-borne viral encephalitis" EXACT [NCIT:C34823] xref: NCIT:C34823 {source="MONDO:equivalentTo"} is_a: EFO:0007538 {source="NCIT:C34823"} ! viral encephalitis is_a: MONDO:0100120 ! vector-borne disease property_value: exactMatch NCIT:C34823 [Term] id: MONDO:0020604 name: X-linked dominant disease def: "X-linked dominant form of disease." [MONDO:patterns/x_linked] xref: DOID:0080009 {source="MONDO:equivalentTo"} is_a: MONDO:0000425 {source="DOID:0080009"} ! X-linked disease disjoint_from: MONDO:0020605 ! X-linked recessive disease property_value: exactMatch DOID:0080009 [Term] id: MONDO:0020605 name: X-linked recessive disease def: "X-linked recessive form of disease." [MONDO:patterns/x_linked] xref: DOID:0080012 {source="MONDO:equivalentTo"} is_a: MONDO:0000425 {source="DOID:0080012"} ! X-linked disease property_value: exactMatch DOID:0080012 [Term] id: MONDO:0020627 name: epileptic encephalopathy, infantile or early childhood comment: See https://github.com/monarch-initiative/mondo/issues/271 xref: OMIMPS:617711 {source="MONDO:equivalentTo"} is_a: MONDO:0015650 ! epilepsy syndrome is_a: MONDO:0015653 ! monogenic epilepsy property_value: exactMatch https://omim.org/phenotypicSeries/PS617711 [Term] id: MONDO:0020628 name: microcephaly, growth restriction, and increased sister chromatid exchange 2 subset: ordo_disease synonym: "MGRISCE2" RELATED ABBREVIATION [OMIM:618097] synonym: "microcephaly, growth restriction, and increased sister chromatid exchange 2" EXACT [OMIM:618097] xref: OMIM:618097 {source="MONDO:equivalentTo", source="Orphanet:508512"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0020629 {source="OMIM:618097"} ! microcephaly, growth restriction and increased sister chromatid exchange property_value: exactMatch https://omim.org/entry/618097 property_value: excluded_subClassOf MONDO:0019289 {source="Orphanet:508512"} [Term] id: MONDO:0020629 name: microcephaly, growth restriction and increased sister chromatid exchange synonym: "MGRISCE" EXACT ABBREVIATION [] xref: OMIMPS:210900 {source="MONDO:equivalentTo"} is_a: MONDO:0015823 ! primary immunodeficiency due to a defect in adaptive immunity property_value: exactMatch https://omim.org/phenotypicSeries/PS210900 [Term] id: MONDO:0020630 name: epileptic encephalopathy, infantile or early childhood, 1 synonym: "developmental and epileptic encephalopathy 91" EXACT [OMIM:617711, OMIM:genemap2] synonym: "epileptic encephalopathy, infantile or early childhood, 1" EXACT [OMIM:617711] synonym: "IECEE1" RELATED ABBREVIATION [OMIM:617711] xref: DOID:0080472 {source="MONDO:equivalentTo"} xref: OMIM:617711 {source="MONDO:equivalentTo"} is_a: MONDO:0020627 {source="OMIM:617711"} ! epileptic encephalopathy, infantile or early childhood property_value: exactMatch DOID:0080472 property_value: exactMatch https://omim.org/entry/617711 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0020633 name: anaplastic cancer synonym: "anaplastic malignant neoplasm" EXACT [NCIT:C36025] xref: NCIT:C36025 {source="MONDO:equivalentTo"} xref: UMLS:C1332287 {source="MONDO:equivalentTo", source="NCIT:C36025"} is_a: MONDO:0004992 {source="NCIT:C36025"} ! cancer property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332287 property_value: exactMatch NCIT:C36025 [Term] id: MONDO:0020634 name: grade III meningioma def: "A malignant meningioma with aggressive clinical course. It recurs in approximately 50-78% of the cases. This category includes the anaplastic (malignant) meningioma, papillary meningioma, and rhabdoid meningioma." [NCIT:C38938] synonym: "grade 3 meningioma" EXACT [NCIT:C38938] synonym: "grade III meningioma" EXACT [NCIT:C38938] synonym: "meningioma, malignant" EXACT [NCIT:C38938] synonym: "WHO grade III meningioma" EXACT [NCIT:C38938] xref: NCIT:C38938 {source="MONDO:equivalentTo"} is_a: MONDO:0016642 {source="NCIT:C38938"} ! meningioma intersection_of: MONDO:0016642 {source="NCIT:C38938"} ! meningioma intersection_of: has_characteristic MONDO:0024493 {source="NCIT:C38938"} ! tumor grade 3, general grading system relationship: has_characteristic MONDO:0024493 ! tumor grade 3, general grading system property_value: exactMatch NCIT:C38938 [Term] id: MONDO:0020638 name: superficial spreading melanoma def: "A type of melanoma that typically occurs in light-skinned individuals ranging in age from young adults to the elderly. Risk factors include extensive sun exposure during childhood, a family history of melanoma, and the presence of dysplastic nevi." [NCIT:C9152] synonym: "cutaneous superficial spreading melanoma" EXACT [NCIT:C9152] synonym: "pagetoid melanoma" EXACT [NCIT:C9152] synonym: "SSM" EXACT ABBREVIATION [NCIT:C9152] synonym: "superficial spreading cutaneous (skin) melanoma" EXACT [NCIT:C9152] synonym: "superficial spreading malignant melanoma of skin" EXACT [NCIT:C9152] synonym: "superficial spreading malignant melanoma of the skin" EXACT [NCIT:C9152] synonym: "superficial spreading malignant skin melanoma" EXACT [NCIT:C9152] synonym: "superficial spreading melanoma" EXACT [NCIT:C9152] synonym: "superficial spreading melanoma of skin" EXACT [NCIT:C9152] synonym: "superficial spreading melanoma of the skin" EXACT [NCIT:C9152] xref: ICDO:8743/3 {source="NCIT:C9152"} xref: NCIT:C9152 {source="MONDO:equivalentTo"} xref: SCTID:254730000 {source="MONDO:equivalentTo"} is_a: EFO:0000389 {source="NCIT:C9152"} ! cutaneous melanoma property_value: exactMatch http://identifiers.org/snomedct/254730000 property_value: exactMatch NCIT:C9152 [Term] id: MONDO:0020639 name: monosomy def: "A chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number." [NCIT:C3239] xref: MESH:D009006 {source="MONDO:equivalentTo"} xref: NCIT:C3239 {source="MONDO:relatedTo"} is_a: MONDO:0700064 ! aneuploidy property_value: exactMatch http://identifiers.org/mesh/D009006 property_value: relatedMatch NCIT:C3239 [Term] id: MONDO:0020644 name: lung non-Hodgkin lymphoma def: "A rare non-Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis. Representative examples include bronchial mucosa-associated lymphoid tissue lymphoma and diffuse large B-cell lymphoma." [NCIT:C5684] synonym: "lung non-Hodgkin lymphoma" EXACT [MONDO:patterns/location, NCIT:C5684] synonym: "lung non-Hodgkin's lymphoma" EXACT [NCIT:C5684] synonym: "non-Hodgkin lymphoma of lung" EXACT [] synonym: "primary lung non-Hodgkin's lymphoma" EXACT [NCIT:C5684] xref: NCIT:C5684 {source="MONDO:equivalentTo"} xref: UMLS:C1334453 {source="NCIT:C5684", source="MONDO:equivalentTo"} is_a: EFO:0005952 {source="NCIT:C5684"} ! non-Hodgkins lymphoma is_a: MONDO:0003987 {source="NCIT:C5684"} ! lung lymphoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334453 property_value: exactMatch NCIT:C5684 [Term] id: MONDO:0020645 name: autosomal dominant osteopetrosis def: "Autosomal dominant form of osteopetrosis (disease)." [MONDO:patterns/autosomal_dominant] synonym: "autosomal dominant osteopetrosis (disease)" EXACT [] synonym: "OPTA" EXACT ABBREVIATION [] synonym: "osteopetrosis (disease), autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: NCIT:C129732 {source="MONDO:equivalentTo"} xref: OMIMPS:607634 {source="MONDO:equivalentTo"} xref: UMLS:C4272579 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0017198 ! osteopetrosis property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4272579 property_value: exactMatch https://omim.org/phenotypicSeries/PS607634 property_value: exactMatch NCIT:C129732 [Term] id: MONDO:0020647 name: microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome synonym: "MFRG" EXACT ABBREVIATION [OMIM:618142] synonym: "microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome" EXACT [OMIM:618142] xref: OMIM:618142 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618142 [Term] id: MONDO:0020648 name: rubella encephalitis xref: SCTID:192689006 {source="MONDO:equivalentTo"} is_a: MONDO:0020068 ! postinfectious encephalitis is_a: MONDO:0021674 ! post-viral disorder intersection_of: MONDO:0019956 ! encephalitis intersection_of: disease_arises_from_feature EFO:1002026 ! rubella relationship: disease_arises_from_feature EFO:1002026 ! rubella property_value: exactMatch http://identifiers.org/snomedct/192689006 [Term] id: MONDO:0020653 name: vaginal adenocarcinoma def: "An adenocarcinoma arising from the vagina. Morphologic variants include the clear cell, endometrioid, mesonephric, and mucinous adenocarcinoma." [NCIT:C7981] synonym: "adenocarcinoma of the vagina" EXACT [NCIT:C7981] synonym: "adenocarcinoma of vagina" EXACT [NCIT:C7981] synonym: "vagina adenocarcinoma" EXACT [NCIT:C7981] synonym: "vaginal adenocarcinoma" EXACT [NCIT:C7981] xref: NCIT:C7981 {source="MONDO:equivalentTo", source="ONCOTREE:VA"} xref: ONCOTREE:VA {source="MONDO:equivalentTo"} is_a: EFO:0000228 {source="NCIT:C7981"} ! adenocarcinoma is_a: MONDO:0001704 {source="NCIT:C7981"} ! vaginal glandular neoplasm is_a: MONDO:0015867 {source="NCIT:C7981"} ! vaginal carcinoma property_value: exactMatch NCIT:C7981 [Term] id: MONDO:0020654 name: renal pelvis/ureter urothelial carcinoma def: "A transitional cell carcinoma that arises from the renal pelvis and ureter." [NCIT:C7716] synonym: "renal pelvis and ureter TCC" EXACT [NCIT:C7716] synonym: "renal pelvis and ureter transitional cell cancer" EXACT [NCIT:C7716] synonym: "renal pelvis and ureter transitional cell carcinoma" EXACT [NCIT:C7716] synonym: "renal pelvis and ureter urothelial carcinoma" EXACT [NCIT:C7716] synonym: "TCC of renal pelvis and ureter" EXACT [NCIT:C7716] synonym: "TCC of the renal pelvis and ureter" EXACT [NCIT:C7716] synonym: "transitional cell cancer of renal pelvis and ureter" EXACT [NCIT:C7716] synonym: "transitional cell cancer of the renal pelvis and ureter" EXACT [NCIT:C7716] synonym: "transitional cell carcinoma of renal pelvis and ureter" EXACT [NCIT:C7716] synonym: "urothelial carcinoma of the renal pelvis and ureter" EXACT [NCIT:C7716] xref: NCIT:C7716 {source="MONDO:equivalentTo", source="ONCOTREE:UTUC"} is_a: EFO:0008528 {source="NCIT:C7716"} ! urothelial carcinoma property_value: exactMatch NCIT:C7716 [Term] id: MONDO:0020657 name: human papillomavirus-related squamous cell carcinoma synonym: "HPV-related squamous cell carcinoma" EXACT [NCIT:C27683] synonym: "human papilloma virus related squamous cell carcinoma" EXACT [NCIT:C27683] synonym: "human papilloma virus-related squamous cell carcinoma" EXACT [NCIT:C27683] synonym: "human papillomavirus-related squamous cell carcinoma" EXACT [NCIT:C27683] xref: NCIT:C27683 {source="MONDO:equivalentTo"} is_a: EFO:0000707 {source="NCIT:C27683"} ! squamous cell carcinoma is_a: MONDO:0017341 ! virus associated tumor intersection_of: EFO:0000707 ! squamous cell carcinoma intersection_of: disease_arises_from_feature EFO:0001668 ! human papilloma virus infection relationship: disease_arises_from_feature EFO:0001668 ! human papilloma virus infection property_value: exactMatch NCIT:C27683 [Term] id: MONDO:0020663 name: malignant spindle cell neoplasm def: "A malignant neoplasm characterized by the presence of atypical spindle cells." [NCIT:C27091] synonym: "malignant spindle cell neoplasm" EXACT [NCIT:C27091] synonym: "malignant spindle cell tumor" EXACT [NCIT:C27091] synonym: "malignant spindle cell tumour" EXACT OMO:0003005 [] synonym: "spindle cell cancer" EXACT [NCIT:C27091] xref: NCIT:C27091 {source="MONDO:equivalentTo"} is_a: EFO:0000705 {source="NCIT:C27091"} ! spindle cell tumor is_a: MONDO:0004992 ! cancer property_value: exactMatch NCIT:C27091 [Term] id: MONDO:0020665 name: high grade malignant neoplasm synonym: "high grade malignant neoplasm" EXACT [NCIT:C36046] xref: NCIT:C36046 {source="MONDO:equivalentTo"} is_a: MONDO:0004992 ! cancer intersection_of: MONDO:0004992 {source="NCIT:C36046"} ! cancer intersection_of: has_characteristic MONDO:0024497 {source="NCIT:C36046"} ! tumor grade 3 or 4, general grading system relationship: has_characteristic MONDO:0024497 ! tumor grade 3 or 4, general grading system property_value: exactMatch NCIT:C36046 [Term] id: MONDO:0020669 name: paranasal sinus cancer def: "A primary or metastatic malignant neoplasm involving the paranasal sinuses." [NCIT:C7487] synonym: "malignant accessory sinus neoplasm" EXACT [NCIT:C7487] synonym: "malignant accessory sinus tumor" EXACT [NCIT:C7487] synonym: "malignant accessory sinus tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of accessory sinus" EXACT [NCIT:C7487] synonym: "malignant neoplasm of paranasal sinus" EXACT [NCIT:C7487] synonym: "malignant neoplasm of the accessory sinus" EXACT [NCIT:C7487] synonym: "malignant neoplasm of the paranasal sinus" EXACT [NCIT:C7487] synonym: "malignant paranasal sinus neoplasm" EXACT [NCIT:C7487] synonym: "malignant paranasal sinus tumor" EXACT [NCIT:C7487] synonym: "malignant paranasal sinus tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of accessory sinus" EXACT [NCIT:C7487] synonym: "malignant tumor of paranasal sinus" EXACT [NCIT:C7487] synonym: "malignant tumor of the accessory sinus" EXACT [NCIT:C7487] synonym: "malignant tumor of the paranasal sinus" EXACT [NCIT:C7487] synonym: "malignant tumour of accessory sinus" EXACT OMO:0003005 [] synonym: "malignant tumour of paranasal sinus" EXACT OMO:0003005 [] synonym: "malignant tumour of the accessory sinus" EXACT OMO:0003005 [] synonym: "malignant tumour of the paranasal sinus" EXACT OMO:0003005 [] xref: NCIT:C7487 {source="MONDO:equivalentTo"} is_a: EFO:0003866 {source="NCIT:C7487"} ! paranasal sinus neoplasm is_a: MONDO:0000376 ! respiratory system cancer is_a: MONDO:0000649 ! sensory system cancer is_a: MONDO:0002132 ! skull cancer property_value: exactMatch NCIT:C7487 [Term] id: MONDO:0020672 name: vascular occlusion disorder def: "A disorder characterized by occlusion of blood vessels. It differs from thrombosis in that it can be used to describe any form of blockage, not just one formed by a clot." [Wikipedia:Vascular_occlusion] synonym: "vascular occlusion" EXACT [Wikipedia:Vascular_occlusion] is_a: EFO:0004264 ! vascular disease [Term] id: MONDO:0020673 name: arterial occlusion def: "Complete closure of the normally patent lumen of the blood vessels which carry blood away from the heart." [NCIT:C35318] synonym: "arterial obstruction" EXACT [NCIT:C35318] synonym: "arterial occlusion" EXACT [NCIT:C35318] xref: NCIT:C35318 {source="MONDO:equivalentTo"} is_a: MONDO:0000473 {source="NCIT:C35318"} ! arterial disorder is_a: MONDO:0020672 ! vascular occlusion disorder property_value: exactMatch NCIT:C35318 [Term] id: MONDO:0020674 name: vascular insufficiency disorder synonym: "vascular insufficiency" EXACT [] xref: SCTID:86341008 {source="MONDO:equivalentTo"} is_a: EFO:0004264 ! vascular disease property_value: exactMatch http://identifiers.org/snomedct/86341008 [Term] id: MONDO:0020677 name: sudden hearing loss disorder xref: SCTID:79471008 {source="MONDO:equivalentTo"} is_a: EFO:0004238 ! hearing loss is_a: MONDO:0020683 ! acute disease property_value: exactMatch http://identifiers.org/snomedct/79471008 [Term] id: MONDO:0020683 name: acute disease def: "Disease having a short and relatively severe course." [MESH:D000208] synonym: "acute disease" EXACT [MESH:D000208, UMLS:C0001314] synonym: "acute diseases" EXACT [MESH:D000208] synonym: "disease, acute" EXACT [MESH:D000208] xref: ICD9:799.89 xref: MESH:D000208 {source="MONDO:equivalentTo", source="UMLS:C0001314"} xref: SCTID:2704003 {source="MONDO:equivalentTo", source="UMLS:C0001314"} xref: UMLS:C0001314 {source="MONDO:equivalentTo"} is_a: EFO:0000408 ! disease property_value: exactMatch http://identifiers.org/mesh/D000208 property_value: exactMatch http://identifiers.org/snomedct/2704003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001314 [Term] id: MONDO:0020687 name: supratentorial ependymal tumor def: "An ependymal tumor arising from the supratentorial region of the brain." [NCIT:C131611] synonym: "supratentorial ependymal tumor" EXACT [NCIT:C131611] xref: NCIT:C131611 {source="MONDO:equivalentTo"} is_a: MONDO:0004245 {source="NCIT:C131611"} ! ependymal tumor of brain property_value: exactMatch NCIT:C131611 [Term] id: MONDO:0020693 name: glycogen storage disease due to liver phosphorylase kinase deficiency def: "A benign form of phosphorylase kinase deficiency caused by variants in PHKA2 or PHKG2 and characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood." [https://www.ncbi.nlm.nih.gov/books/NBK55061/, Orphanet:264580] subset: ordo_disease {source="Orphanet:264580"} xref: Orphanet:264580 {source="MONDO:equivalentTo"} is_a: EFO:0001421 ! liver disease is_a: MONDO:0002412 {source="PMID:33340416"} ! disorder of glycogen metabolism relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare property_value: exactMatch Orphanet:264580 property_value: excluded_subClassOf MONDO:0005066 {source="Orphanet:264580"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0020698 name: inborn error of biotin metabolism is_a: EFO:0005596 ! vitamin metabolic disorder is_a: MONDO:0000461 ! nutritional biotin deficiency is_a: MONDO:0019189 ! inborn disorder of amino acid and other organic acid metabolism [Term] id: MONDO:0020699 name: biotin metabolic disease def: "A deficiency in biotin through either inherited or acquired causes." [PMID:12459313, Wikipedia:Biotin_deficiency] is_a: MONDO:0045022 ! disorder of organic acid metabolism is_a: MONDO:0056803 ! sulfur metabolism disease [Term] id: MONDO:0020702 name: autosomal dominant epidermolytic ichthyosis is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0007239 ! epidermolytic ichthyosis [Term] id: MONDO:0020703 name: erythroid neoplasm synonym: "erythroid neoplasm" EXACT [NCIT:C7064] synonym: "erythroid tumor" EXACT [NCIT:C7064] synonym: "erythroid tumour" EXACT OMO:0003005 [] xref: NCIT:C7064 {source="MONDO:equivalentTo"} is_a: EFO:0002428 ! chronic myeloproliferative disorder property_value: exactMatch NCIT:C7064 [Term] id: MONDO:0020704 name: inherited rippling muscle disease def: "A rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase." [https://orcid.org/0000-0001-5208-3432, Orphanet:97238] subset: gard_rare {source="GARD:0009164"} subset: ordo_disease synonym: "rippling muscle disease" BROAD [MONDO:Lexical, OMIM:606072] synonym: "RMD" BROAD ABBREVIATION [MONDO:Lexical, OMIM:606072] xref: MedDRA:10069417 {source="Orphanet:97238"} is_a: MONDO:0011634 ! rippling muscle disease is_a: MONDO:0700223 ! hereditary skeletal muscle disorder intersection_of: MONDO:0011634 ! rippling muscle disease intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: closeMatch http://identifiers.org/meddra/10069417 property_value: excluded_subClassOf MONDO:0016146 {source="Orphanet:97238", source="https://www.ncbi.nlm.nih.gov/books/NBK1385/"} [Term] id: MONDO:0020705 name: neural tube defects, susceptibility to subset: predisposition synonym: "neural tube defects" EXACT [OMIM:182940, OMIM:genemap2] synonym: "neural tube defects, SUSCEPTIBILITY to" RELATED [OMIM:182940] synonym: "NTD" RELATED ABBREVIATION [OMIM:182940] synonym: "spina bifida" RELATED [OMIM:182940] synonym: "spina bifida, susceptibility to" EXACT [OMIM:182940, OMIM:genemap2] xref: OMIM:182940 {source="MONDO:equivalentTo"} is_a: MONDO:0020573 ! inherited disease susceptibility intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: predisposes_towards MONDO:0018075 ! neural tube defect relationship: predisposes_towards MONDO:0018075 ! neural tube defect property_value: exactMatch https://omim.org/entry/182940 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0020715 name: multiple system atrophy 1, susceptibility to synonym: "MSA1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:146500] synonym: "MSA1, susceptibility to" EXACT [OMIM:146500] synonym: "multiple system atrophy 1, susceptibility to" EXACT [MONDO:Lexical, OMIM:146500] synonym: "multiple system atrophy, susceptibility to" EXACT [OMIM:146500, OMIM:genemap2] xref: OMIM:146500 {source="MONDO:equivalentTo"} is_a: MONDO:0020573 ! inherited disease susceptibility relationship: predisposes_towards EFO:1001050 ! multiple system atrophy property_value: exactMatch https://omim.org/entry/146500 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0020720 name: X-linked hypophosphatemic rickets synonym: "X-linked hypophosphatemic rickets" EXACT [] synonym: "X-linked hypophosphatemic rickets (recessive or dominant)" EXACT [https://orcid.org/0000-0001-5493-2602] xref: MESH:D053098 {source="MONDO:equivalentTo"} xref: NCIT:C123265 {source="MONDO:equivalentObsolete"} xref: UMLS:C3540852 {source="MONDO:equivalentTo"} is_a: MONDO:0000044 ! hereditary hypophosphatemic rickets is_a: MONDO:0000425 ! X-linked disease property_value: exactMatch http://identifiers.org/mesh/D053098 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3540852 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2844 xsd:anyURI [Term] id: MONDO:0020721 name: X-linked sideroblastic anemia 1 subset: ordo_disease {source="Orphanet:75563"} synonym: "anaemia hereditary sideroblastic" RELATED OMO:0003005 [] synonym: "anaemia sex-linked hypochromic sideroblastic" RELATED OMO:0003005 [] synonym: "anemia hereditary sideroblastic" RELATED [GARD:0009456] synonym: "anemia sex-linked hypochromic sideroblastic" RELATED [GARD:0009456] synonym: "anemia, hereditary sideroblastic" RELATED [OMIM:300751] synonym: "anemia, hypochromic" RELATED [OMIM:300751] synonym: "anemia, sideroblastic, 1" RELATED [OMIM:300751] synonym: "anemia, sideroblastic, 1, X-linked recessive" EXACT [OMIM:300751, OMIM:genemap2] synonym: "anemia, sideroblastic, X-linked" RELATED [MONDO:Lexical, OMIM:300751] synonym: "ANH1" RELATED ABBREVIATION [GARD:0009456] synonym: "erythroid 5-aminolevulinate synthase deficiency" RELATED [GARD:0009456] synonym: "hereditary iron-loading Anaemia" RELATED OMO:0003005 [] synonym: "hereditary iron-loading Anemia" RELATED [OMIM:300751] synonym: "SIDBA1" RELATED ABBREVIATION [OMIM:300751] synonym: "sideroblastic anaemia X-linked" RELATED OMO:0003005 [] synonym: "sideroblastic anemia X-linked" RELATED [GARD:0009456] synonym: "sideroblastic anemia, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "X chromosome-linked sideroblastic anaemia" RELATED OMO:0003005 [] synonym: "X chromosome-linked sideroblastic anemia" RELATED [GARD:0009456] synonym: "X-linked sideroblastic anaemia" EXACT OMO:0003005 [] synonym: "X-linked sideroblastic anemia" EXACT [MONDO:0010419] synonym: "XLSA" EXACT ABBREVIATION [DOID:0060063, MONDO:Lexical, OMIM:300751, Orphanet:75563] xref: DOID:0060063 {source="MONDO:equivalentTo"} xref: MESH:C536761 {source="Orphanet:75563", source="MONDO:equivalentTo", source="Orphanet:75563/e"} xref: OMIM:300751 {source="Orphanet:75563", source="MONDO:equivalentTo", source="Orphanet:75563/e", source="DOID:0060063"} xref: Orphanet:75563 {source="MONDO:equivalentTo", source="OMIM:300751"} xref: SCTID:62677000 {source="MONDO:equivalentTo"} xref: UMLS:C0221018 {source="MONDO:equivalentTo", source="OMIM:300751", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000425 {source="MESH:C536761", source="MONDO:Entailed", source="MONDO:Redundant"} ! X-linked disease is_a: MONDO:0017754 {source="Orphanet:75563"} ! inborn disorder of porphyrin metabolism is_a: MONDO:0020099 {source="Orphanet:75563"} ! inherited sideroblastic anemia property_value: exactMatch DOID:0060063 property_value: exactMatch http://identifiers.org/mesh/C536761 property_value: exactMatch http://identifiers.org/snomedct/62677000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221018 property_value: exactMatch https://omim.org/entry/300751 property_value: exactMatch Orphanet:75563 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0020722 name: nephrolithiasis susceptibility caused by SLC26A1 synonym: "CAON" RELATED ABBREVIATION [OMIM:167030] synonym: "nephrolithiasis, calcium oxalate" RELATED [DOID:585, OMIM:167030] synonym: "urolithiasis, calcium oxalate" RELATED [DOID:585, OMIM:167030] xref: DOID:0080652 {source="MONDO:equivalentTo"} xref: OMIM:167030 {source="MONDO:equivalentTo", source="DOID:585"} xref: UMLS:C1833683 {source="OMIM:167030", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0020573 ! inherited disease susceptibility relationship: predisposes_towards EFO:0004253 ! nephrolithiasis property_value: exactMatch DOID:0080652 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833683 property_value: exactMatch https://omim.org/entry/167030 [Term] id: MONDO:0020723 name: vitamin D-dependent rickets, type 1A synonym: "1-Alpha, 25-Hydroxyvitamin D3 deficiency, selective" RELATED [OMIM:264700] synonym: "1-Alpha-Hydroxylase deficiency" RELATED [OMIM:264700] synonym: "25-hydroxycholecalciferol-1-Hydroxylase deficiency" RELATED [OMIM:264700] synonym: "PDDR 1A" RELATED [OMIM:264700] synonym: "pseudovitamin D-deficiency rickets, type 1A" RELATED [OMIM:264700] synonym: "VDDR1A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:264700] synonym: "vitamin D dependency, type 1" RELATED [OMIM:264700] synonym: "vitamin D hydroxylation-deficient rickets, type 1A" RELATED [MONDO:Lexical, OMIM:264700] synonym: "vitamin D-dependent rickets, type 1A" EXACT [OMIM:264700] synonym: "vitamin D-dependent rickets, type I" EXACT [OMIM:264700, OMIM:genemap2] xref: DOID:0080886 {source="MONDO:equivalentTo"} xref: OMIM:264700 {source="Orphanet:289157", source="MONDO:equivalentTo", source="Orphanet:289157/e"} xref: UMLS:C0268689 {source="Orphanet:289157", source="NCIT:C131073", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:264700"} is_a: MONDO:0009924 {source="MONDO:prototype"} ! vitamin D-dependent rickets, type 1 is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder property_value: exactMatch DOID:0080886 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268689 property_value: exactMatch https://omim.org/entry/264700 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0020726 name: tubulointerstitial kidney disease, autosomal dominant, 2 def: "An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function." [GARD:0007002] subset: ordo_clinical_subtype {source="Orphanet:88949"} synonym: "ADMCKD1" RELATED ABBREVIATION [GARD:0007002] synonym: "ADTKD-MUC1" EXACT [Orphanet:88949, PMID:25738250] synonym: "autosomal dominant medullary cystic kidney disease without hyperuricemia" EXACT [MONDO:0019510] synonym: "autosomal dominant tubulointerstitial kidney disease due to mutations in MUC1" EXACT [PMID:25738250] synonym: "Mckd" RELATED [OMIM:174000] synonym: "MCKD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:174000] synonym: "medullary cystic kidney disease 1" EXACT [MONDO:Lexical, OMIM:174000] synonym: "medullary cystic kidney disease type 1" EXACT [MONDORULE:1, OMIM:174000] synonym: "medullary cystic kidney disease, autosomal dominant" EXACT [OMIM:174000] synonym: "MUC1-related autosomal dominant medullary cystic kidney disease" EXACT [Orphanet:88949] synonym: "MUC1-related autosomal dominant tubulointerstitial kidney disease" RELATED [Orphanet:88949] synonym: "MUCI-related ADTKD" EXACT [Orphanet:88949] synonym: "polycystic kidneys, medullary type" RELATED [OMIM:174000] xref: NCIT:C123171 {source="MONDO:equivalentTo"} xref: OMIM:174000 {source="Orphanet:34149", source="MONDO:equivalentTo", source="Orphanet:34149/e", source="GARD:0010801"} xref: Orphanet:88949 {source="MONDO:equivalentTo"} xref: UMLS:C1868139 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:174000"} xref: UMLS:CN206321 {source="MONDO:equivalentObsolete"} is_a: MONDO:0000608 {source="OMIM:174000"} ! familial juvenile hyperuricemic nephropathy is_a: MONDO:0008264 {source="MONDO:prototype", source="Orphanet:88949"} ! autosomal dominant medullary cystic kidney disease with or without hyperuricemia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868139 property_value: exactMatch https://omim.org/entry/174000 property_value: exactMatch NCIT:C123171 property_value: exactMatch Orphanet:88949 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7002/autosomal-dominant-tubulointerstitial-kidney-disease-due-to-muc1-mutations xsd:anyURI {source="GARD:0007002"} [Term] id: MONDO:0020732 name: progeria comment: Reason: duplicate. This will be merged with MONDO:0015333 Progeria subset: obsoletion_candidate xref: MESH:D011371 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: OMIMPS:176670 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0015333 ! progeroid syndrome property_value: exactMatch http://identifiers.org/mesh/D011371 property_value: exactMatch https://omim.org/phenotypicSeries/PS176670 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5537 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6227 xsd:anyURI property_value: IAO:0006012 "2023-08-01" xsd:string [Term] id: MONDO:0020740 name: ectodermal dysplasia and immunodeficiency 1 synonym: "ectodermal dysplasia and immunodeficiency 1, X-linked recessive" EXACT [OMIM:300291, OMIM:genemap2] synonym: "ectodermal dysplasia, anhidrotic, with immune deficiency 1" RELATED [OMIM:300291] synonym: "ectodermal dysplasia, hypohidrotic, with immune deficiency 1" RELATED [OMIM:300291] synonym: "EDA-Id" BROAD [OMIM:300291] synonym: "EDAID1" EXACT ABBREVIATION [OMIM:300291] synonym: "HED-Id" BROAD [OMIM:300291] xref: DOID:0081078 {source="MONDO:equivalentTo"} xref: NCIT:C176592 {source="MONDO:equivalentTo"} xref: OMIM:300291 {source="MONDO:equivalentTo", source="Orphanet:98813", source="Orphanet:98813/e"} is_a: MONDO:0010293 {source="MONDO:prototype"} ! ectodermal dysplasia and immune deficiency is_a: MONDO:0100162 {source="https://orcid.org/0000-0002-7437-8060"} ! IKBKG-related immunodeficiency with or without ectodermal dysplasia property_value: exactMatch DOID:0081078 property_value: exactMatch https://omim.org/entry/300291 property_value: exactMatch NCIT:C176592 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5520 xsd:anyURI [Term] id: MONDO:0020743 name: mixed phenotype acute leukemia def: "An acute leukemia of ambiguous lineage. It is characterized by the presence of either separate populations of blasts of more than one lineage, or one population of blasts co-expressing markers of more than one lineage." [NCIT:C82179] subset: ordo_disease synonym: "mixed phenotype acute leukemia" EXACT [NCIT:C82179] synonym: "MPAL" EXACT ABBREVIATION [NCIT:C82179] xref: MedDRA:10067399 {source="Orphanet:530995"} xref: NCIT:C82179 {source="MONDO:equivalentTo"} xref: Orphanet:530995 {source="MONDO:equivalentTo"} is_a: MONDO:0019460 {source="NCIT:C82179", source="Orphanet:530995"} ! acute leukemia of ambiguous lineage property_value: closeMatch http://identifiers.org/meddra/10067399 property_value: exactMatch NCIT:C82179 property_value: exactMatch Orphanet:530995 [Term] id: MONDO:0020745 name: ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome subset: n_of_one synonym: "autosomal dominant cardiac arrhythmia (Kuhn)" EXACT DEPRECATED [OMIM:115000] synonym: "cardiac arrhythmia" RELATED [OMIM:115000] synonym: "extrasystoles" RELATED [OMIM:115000] synonym: "VACRDS" EXACT ABBREVIATION [OMIM:115000] synonym: "ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome" EXACT [OMIM:115000, OMIM:genemap2] xref: OMIM:115000 {source="MONDO:equivalentTo"} xref: UMLS:C5542154 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0007263 ! cardiac rhythm disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C5542154 property_value: exactMatch https://omim.org/entry/115000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0020752 name: myoclonic epilepsy, juvenile, susceptibility to, 1 comment: The OMIM entry is named generically, the same as the PS (https://omim.org/phenotypicSeries/PS254770) but it refers to a susceptibility conferred by a specific gene. subset: predisposition synonym: "EJM1" EXACT ABBREVIATION [OMIM:254770] is_a: MONDO:0020573 {source="OMIM:254770"} ! inherited disease susceptibility relationship: predisposes_towards MONDO:0009696 {source="OMIM:254770"} ! juvenile myoclonic epilepsy property_value: excluded_subClassOf MONDO:0009696 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1348 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4147 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5507 xsd:anyURI [Term] id: MONDO:0020753 name: Orthocoronavirinae infectious disease def: "Infectious disease causes by viruses in the subfamily Orthocoronavirinae (coronaviruses). In humans, coronaviruses cause respiratory tract infections that can be mild, such as some cases of the common cold (among other possible causes, predominantly rhinoviruses), and others that can be lethal, such as SARS, MERS, and COVID-19." [https://github.com/monarch-initiative/mondo/issues/1355, MONDO:cjm, Wikipedia:Coronavirus] synonym: "coronavirus infectious disease" EXACT [Wikipedia:Coronavirus] xref: DOID:0080599 {source="MONDO:equivalentTo"} is_a: EFO:0007223 ! Coronaviridae infectious disease property_value: exactMatch DOID:0080599 [Term] id: MONDO:0020754 name: visceral myopathy 1 synonym: "infantile visceral myopathy" RELATED [OMIM:155310] synonym: "megaduodenum and/or megacystis" RELATED [OMIM:155310] synonym: "pseudoobstruction, idiopathic intestinal" RELATED [OMIM:155310] synonym: "visceral myopathy" EXACT [OMIM:155310] synonym: "visceral myopathy 1" EXACT [OMIM:155310, OMIM:genemap2] synonym: "VSCM" RELATED ABBREVIATION [OMIM:155310] xref: OMIM:155310 {source="MONDO:equivalentTo"} is_a: EFO:0009431 {source="Orphanet:2604"} ! intestinal disease property_value: exactMatch https://omim.org/entry/155310 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0020760 name: skin squamous cell carcinoma in situ def: "Intraepidermal squamous cell carcinoma, confined to the epidermis. There is no evidence of invasion." [NCIT:C2906] synonym: "intraepidermal squamous cell carcinoma" EXACT [NCIT:C2906] synonym: "skin squamous cell cancer in situ" EXACT [NCIT:C2906] synonym: "skin squamous cell carcinoma in situ" EXACT [NCIT:C2906] synonym: "squamous cell carcinoma in situ of skin" EXACT [NCIT:C2906] synonym: "squamous cell carcinoma in situ of the skin" EXACT [NCIT:C2906] xref: NCIT:C2906 {source="MONDO:equivalentTo"} is_a: MONDO:0002529 {source="NCIT:C2906"} ! skin squamous cell carcinoma is_a: MONDO:0004641 {source="NCIT:C2906"} ! skin carcinoma in situ is_a: MONDO:0004693 ! squamous carcinoma in situ property_value: exactMatch NCIT:C2906 [Term] id: MONDO:0020761 name: Bowen disease of the skin def: "A form of squamous cell carcinoma in situ. It is a distinct clinicopathological entity and arises from the skin or the mucocutaneous junction. It affects predominantly white males in their 6-8th decades of life. Exposed and non-exposed skin sites are equally affected. UV damage and ingestion of inorganic arsenic may play a role in the development of the disease. On the skin surface, it presents as a single or multiple erythematous, scaly, keratotic patches or plaques. The clinical entity of erythroplasia of Queyrat is regarded as Bowen disease of the penis and it presents as an asymptomatic, red, circumscribed plaque. Morphologically, Bowen disease is characterized by the presence of hyperkeratosis, parakeratosis, dyskeratosis, and acanthosis. The keratotic squamous cells are atypical and display hyperchromatism and abnormal mitotic figures. The dermoepidermal basement membrane is intact. Complete surgical removal of the lesion may be curative." [NCIT:C62571] subset: gard_rare synonym: "Bowen Disease" RELATED [MESH:D001913] synonym: "Bowen disease" EXACT [NCIT:C62571] synonym: "Bowen disease of the skin" EXACT [NCIT:C62571] synonym: "Bowen's disease of the skin" EXACT [NCIT:C62571] synonym: "Bowens Disease" RELATED [MESH:D001913] synonym: "Disease, Bowen" RELATED [MESH:D001913] synonym: "Disease, Bowen's" RELATED [MESH:D001913] synonym: "intraepidermal squamous cell carcinoma, Bowen type" EXACT [NCIT:C62571] xref: ICDO:8081/2 {source="NCIT:C62571"} xref: MESH:D001913 {source="UMLS:C0006079", source="MONDO:equivalentTo"} xref: NCIT:C62571 {source="UMLS:C0006079", source="MONDO:equivalentTo"} xref: UMLS:C0006079 {source="MONDO:equivalentTo", source="GARD:0005948", source="NCIT:C62571"} is_a: MONDO:0020760 {source="NCIT:C62571"} ! skin squamous cell carcinoma in situ relationship: has_characteristic MONDO:0021136 {source="GARD:0005948"} ! rare property_value: exactMatch http://identifiers.org/mesh/D001913 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006079 property_value: exactMatch NCIT:C62571 [Term] id: MONDO:0020768 name: X-linked deafness comment: Note that this encompasses both syndromic and non-syndromic types. synonym: "deafness, X-linked" EXACT [OMIMPS:304500] synonym: "deafness, X-linked, DFN" EXACT [GARD:0001715] synonym: "DFNX" EXACT ABBREVIATION [MONDO:cjm] synonym: "X-linked deafness" EXACT [] xref: OMIMPS:304500 {source="MONDO:cjm", source="MONDO:equivalentTo"} is_a: EFO:0004238 ! hearing loss is_a: MONDO:0000425 ! X-linked disease is_a: MONDO:0037940 ! inherited auditory system disease property_value: exactMatch https://omim.org/phenotypicSeries/PS304500 [Term] id: MONDO:0020771 name: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy synonym: "SCAN" EXACT ABBREVIATION [MONDO:cjm] xref: OMIMPS:607250 {source="MONDO:equivalentTo"} is_a: EFO:0008499 {source="PMID:31723605"} ! DNA repair deficiency is_a: MONDO:0015244 {source="MONDO:cjm"} ! autosomal recessive cerebellar ataxia property_value: exactMatch https://omim.org/phenotypicSeries/PS607250 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5347 xsd:anyURI [Term] id: MONDO:0020782 name: chronic gingivitis def: "Chronic painless inflammation of the gums. It is characterized by erythema and edema of the gums and bleeding while brushing the teeth." [NCIT:C34474] synonym: "Chronic Gingivitis" RELATED [NCIT:C34474] synonym: "Chronic gingivitis" RELATED [UMLS:C0008684] synonym: "chronic gingivitis" EXACT [NCIT:C34474] xref: ICD9:523.1 xref: ICD9:523.10 xref: NCIT:C34474 {source="UMLS:C0008684", source="MONDO:equivalentTo"} xref: SCTID:72621003 {source="UMLS:C0008684", source="MONDO:equivalentTo"} xref: UMLS:C0008684 {source="MONDO:equivalentTo"} is_a: MONDO:0002508 {source="NCIT:C34474", source="UMLS:C0008684"} ! gingivitis property_value: exactMatch http://identifiers.org/snomedct/72621003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008684 property_value: exactMatch NCIT:C34474 [Term] id: MONDO:0020794 name: colorectal medullary carcinoma def: "A rare, invasive colorectal adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis." [NCIT:C43590] synonym: "colorectal medullary carcinoma" EXACT [NCIT:C43590] xref: NCIT:C43590 {source="MONDO:equivalentTo"} is_a: EFO:0000365 {source="NCIT:C43590"} ! colorectal adenocarcinoma property_value: exactMatch NCIT:C43590 [Term] id: MONDO:0020795 name: Silver-Russell syndrome 5 synonym: "SILVER-RUSSELL SYNDROME 5" EXACT [OMIM:618908] synonym: "Silver-Russell syndrome 5" EXACT [] synonym: "SRS5" EXACT ABBREVIATION [OMIM:618908] xref: OMIM:618908 {source="MONDO:equivalentTo"} is_a: MONDO:0008394 {source="OMIM:618908"} ! Silver-Russell syndrome property_value: exactMatch https://omim.org/entry/618908 [Term] id: MONDO:0020798 name: hypoparathyroidism, familial isolated, 2 synonym: "FIH2" EXACT ABBREVIATION [OMIM:618883] synonym: "hypoparathyroidism, familial isolated 2" EXACT [OMIM:618883, OMIM:genemap2] synonym: "hypoparathyroidism, familial isolated, 2" EXACT [OMIM:618883] xref: OMIM:618883 {source="MONDO:equivalentTo"} is_a: MONDO:0016390 {source="OMIM:618883", source="https://github.com/monarch-initiative/mondo/issues/1305"} ! familial hypoparathyroidism property_value: exactMatch https://omim.org/entry/618883 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0020803 name: obsolete bundle branch block def: "OBSOLETE. A defect of the bundle branches or fascicles in the electrical conduction system of the heart." [Wikipedia:Bundle_branch_block] xref: SCTID:6374002 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://identifiers.org/snomedct/6374002 property_value: IAO:0000231 IAO:0000423 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2536 xsd:anyURI is_obsolete: true consider: HP:0011710 [Term] id: MONDO:0020811 name: mitochondrial complex III deficiency, nuclear type xref: OMIMPS:124000 {source="MONDO:equivalentTo"} is_a: MONDO:0015448 {source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial complex III deficiency property_value: exactMatch https://omim.org/phenotypicSeries/PS124000 [Term] id: MONDO:0020820 name: distal arthrogryposis type 2B1 synonym: "arthrogryposis, distal, type 2B1" EXACT [OMIM:601680, OMIM:genemap2] synonym: "DA2B1" EXACT ABBREVIATION [DOID:0111600] xref: DOID:0111600 {source="MONDO:equivalentTo"} xref: OMIM:601680 {source="DOID:0111600", source="Orphanet:1147", source="MONDO:equivalentTo", source="Orphanet:1147/e"} is_a: MONDO:0000426 {source="DOID:0111600"} ! autosomal dominant disease is_a: MONDO:0011128 {source="DOID:0111600"} ! Sheldon-hall syndrome property_value: exactMatch DOID:0111600 property_value: exactMatch https://omim.org/entry/601680 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0020831 name: congenital vertebral-cardiac-renal anomalies syndrome subset: ordo_malformation_syndrome synonym: "VCRL" EXACT ABBREVIATION [MONDO:cjm] synonym: "vertebral, cardiac, renal, and limb defects syndrome" EXACT [OMIMPS:617660] xref: OMIMPS:617660 {source="MONDO:equivalentTo"} xref: Orphanet:521438 {source="MONDO:equivalentTo"} is_a: EFO:0003777 {source="MONDO:0015506-obsoleted"} ! heart disease is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0015161 {source="Orphanet:521438"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability property_value: exactMatch https://omim.org/phenotypicSeries/PS617660 property_value: exactMatch Orphanet:521438 [Term] id: MONDO:0020836 name: autism, susceptiblity to subset: predisposition xref: OMIMPS:209850 {source="MONDO:equivalentTo"} is_a: MONDO:0020573 ! inherited disease susceptibility intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: predisposes_towards EFO:0003758 ! autism relationship: predisposes_towards EFO:0003758 ! autism property_value: exactMatch https://omim.org/phenotypicSeries/PS209850 [Term] id: MONDO:0020841 name: neurodevelopmental disorder with cerebellar atrophy and with or without seizures synonym: "NEDCAS" EXACT ABBREVIATION [OMIM:618056] synonym: "neurodevelopmental disorder with cerebellar atrophy and with or without seizures" EXACT [OMIM:618056] xref: OMIM:618056 {source="MONDO:equivalentTo"} xref: UMLS:CN252657 {source="MONDO:equivalentTo"} is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN252657 property_value: exactMatch https://omim.org/entry/618056 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0020845 name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 synonym: "PEOB5" EXACT ABBREVIATION [OMIM:618098] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5" EXACT [OMIM:618098] synonym: "progressive external ophthalmoplegia, autosomal recessive 5" EXACT [OMIM:618098] xref: DOID:0111524 {source="MONDO:equivalentTo"} xref: OMIM:618098 {source="MONDO:equivalentTo"} is_a: MONDO:0000090 {source="OMIM:618098"} ! progressive external ophthalmoplegia with mitochondrial DNA deletions property_value: exactMatch DOID:0111524 property_value: exactMatch https://omim.org/entry/618098 [Term] id: MONDO:0020846 name: intellectual disability, autosomal recessive 64 synonym: "MENTAL RETARDATION, autosomal recessive 64" EXACT [OMIM:618103] synonym: "MRT64" EXACT ABBREVIATION [OMIM:618103] xref: DOID:0081225 {source="MONDO:equivalentTo"} xref: OMIM:618103 {source="MONDO:equivalentTo"} is_a: MONDO:0019502 {source="OMIM:618103"} ! autosomal recessive non-syndromic intellectual disability property_value: exactMatch DOID:0081225 property_value: exactMatch https://omim.org/entry/618103 [Term] id: MONDO:0020847 name: intellectual disability, autosomal dominant 58 synonym: "MENTAL RETARDATION, autosomal dominant 58" EXACT [OMIM:618106] synonym: "MRD58" EXACT ABBREVIATION [OMIM:618106] xref: OMIM:618106 {source="MONDO:equivalentTo"} is_a: MONDO:0015802 {source="OMIM:618106"} ! autosomal dominant non-syndromic intellectual disability property_value: exactMatch https://omim.org/entry/618106 [Term] id: MONDO:0020850 name: intellectual disability, autosomal recessive 65 synonym: "intellectual disability, autosomal recessive 65" EXACT [OMIM:618109] synonym: "mental retardation, autosomal recessive 65" EXACT DEPRECATED [OMIM:618109] synonym: "MRT65" EXACT DEPRECATED [OMIM:618109] xref: DOID:0081226 {source="MONDO:equivalentTo"} xref: OMIM:618109 {source="MONDO:equivalentTo"} is_a: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability property_value: exactMatch DOID:0081226 property_value: exactMatch https://omim.org/entry/618109 [Term] id: MONDO:0020852 name: spermatogenic failure 31 synonym: "spermatogenic failure 31" EXACT [OMIM:618112] synonym: "SPGF31" EXACT ABBREVIATION [OMIM:618112] xref: DOID:0111922 {source="MONDO:equivalentTo"} xref: OMIM:618112 {source="MONDO:equivalentTo"} is_a: EFO:0000279 {source="https://orcid.org/0000-0001-5208-3432"} ! azoospermia property_value: exactMatch DOID:0111922 property_value: exactMatch https://omim.org/entry/618112 [Term] id: MONDO:0020853 name: encephalitis/encephalopathy, mild, with reversible myelin vacuolization synonym: "encephalitis/encephalopathy, mild, with reversible myelin vacuolization" EXACT [OMIM:618113] synonym: "Encephalitis/encephalopathy, mild, with reversible splenial lesion" EXACT [OMIM:618113] synonym: "MMERV" EXACT ABBREVIATION [OMIM:618113] xref: OMIM:618113 {source="MONDO:equivalentTo"} is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy property_value: exactMatch https://omim.org/entry/618113 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5671 xsd:anyURI [Term] id: MONDO:0020854 name: Liddle syndrome 2 def: "Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1G gene." [MONDO:patterns/disease_series_by_gene] synonym: "Liddle syndrome 2" EXACT [OMIM:618114] synonym: "Liddle syndrome caused by mutation in SCNN1G" EXACT [] synonym: "LIDLS2" EXACT ABBREVIATION [OMIM:618114] synonym: "SCNN1G Liddle syndrome" EXACT [MONDO:patterns/disease_series_by_gene] xref: OMIM:618114 {source="MONDO:equivalentTo"} is_a: MONDO:0008323 ! Liddle syndrome property_value: exactMatch https://omim.org/entry/618114 [Term] id: MONDO:0020858 name: mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 synonym: "MC5DN5" EXACT ABBREVIATION [OMIM:618120] synonym: "Mitochondrial Complex 5 (ATP Synthase) Deficiency, ATP5F1D Type" EXACT [OMIM:618120] synonym: "mitochondrial complex v (atp synthase) deficiency" EXACT [OMIM:618120, OMIM:genemap2] synonym: "MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5" EXACT [OMIM:618120] xref: OMIM:618120 {source="MONDO:equivalentTo"} is_a: MONDO:0000066 ! mitochondrial complex deficiency property_value: exactMatch https://omim.org/entry/618120 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0020927 name: postaxial polydactyly xref: OMIMPS:174200 {source="MONDO:equivalentTo"} is_a: MONDO:0011348 {source="MONDO:cjm"} ! non-syndromic polydactyly property_value: exactMatch https://omim.org/phenotypicSeries/PS174200 [Term] id: MONDO:0020937 name: contractures, pterygia, and variable skeletal fusions syndrome xref: OMIMPS:178110 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0017415 ! multiple pterygium syndrome property_value: exactMatch https://omim.org/phenotypicSeries/PS178110 [Term] id: MONDO:0020947 name: parasitic eye infection def: "Mild to severe infections of the eye and its adjacent structures (adnexa) by adult or larval protozoan or metazoan parasites." [MESH:D015822] synonym: "EYE INFECT PARASITIC" RELATED [MESH:D015822] synonym: "Eye Infection, Parasitic" RELATED [MESH:D015822] synonym: "Eye Infections, Parasitic" RELATED [MESH:D015822] synonym: "Infection, Parasitic Eye" RELATED [MESH:D015822] synonym: "Infection, Parasitic Ocular" RELATED [MESH:D015822] synonym: "Infections, Parasitic Eye" RELATED [MESH:D015822] synonym: "Infections, Parasitic Ocular" RELATED [MESH:D015822] synonym: "OCULAR INFECT PARASITIC" RELATED [MESH:D015822] synonym: "Ocular Infection, Parasitic" RELATED [MESH:D015822] synonym: "Ocular Infections, Parasitic" RELATED [MESH:D015822] synonym: "PARASITIC EYE INFECT" RELATED [MESH:D015822] synonym: "Parasitic Eye Infection" RELATED [MESH:D015822] synonym: "Parasitic eye infection" RELATED [UMLS:C0015406] synonym: "parasitic eye infection" EXACT [] synonym: "Parasitic Eye Infections" RELATED [MESH:D015822] synonym: "Parasitic Ocular Infection" RELATED [MESH:D015822] synonym: "Parasitic Ocular Infections" RELATED [MESH:D015822] xref: ICD9:136.9 xref: MESH:D015822 {source="MONDO:equivalentTo", source="UMLS:C0015406"} xref: SCTID:312418006 {source="MONDO:equivalentTo", source="UMLS:C0015406"} xref: UMLS:C0015406 {source="MONDO:equivalentTo"} is_a: EFO:0001067 {source="MESH:D015822"} ! parasitic infection is_a: MONDO:0043885 {source="MESH:D015822"} ! eye infectious disorder property_value: exactMatch http://identifiers.org/mesh/D015822 property_value: exactMatch http://identifiers.org/snomedct/312418006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015406 [Term] id: MONDO:0020950 name: viral eye infection def: "Infections of the eye caused by minute intracellular agents. These infections may lead to severe inflammation in various parts of the eye - conjunctiva, iris, eyelids, etc. Several viruses have been identified as the causative agents. Among these are Herpesvirus, Adenovirus, Poxvirus, and Myxovirus." [MESH:D015828] synonym: "EYE INFECT VIRAL" RELATED [MESH:D015828] synonym: "Eye Infection, Viral" RELATED [MESH:D015828] synonym: "Eye Infections, Viral" RELATED [MESH:D015828] synonym: "Infection, Viral Eye" RELATED [MESH:D015828] synonym: "Infection, Viral Ocular" RELATED [MESH:D015828] synonym: "Infections, Viral Eye" RELATED [MESH:D015828] synonym: "Infections, Viral Ocular" RELATED [MESH:D015828] synonym: "OCULAR INFECT VIRAL" RELATED [MESH:D015828] synonym: "Ocular Infection, Viral" RELATED [MESH:D015828] synonym: "Ocular Infections, Viral" RELATED [MESH:D015828] synonym: "VIRAL EYE INFECT" RELATED [MESH:D015828] synonym: "Viral Eye Infection" RELATED [MESH:D015828] synonym: "Viral eye infection" RELATED [UMLS:C0015407] synonym: "viral eye infection" EXACT [] synonym: "Viral Eye Infections" RELATED [MESH:D015828] synonym: "Viral Ocular Infection" RELATED [MESH:D015828] synonym: "Viral Ocular Infections" RELATED [MESH:D015828] xref: MESH:D015828 {source="MONDO:equivalentTo", source="UMLS:C0015407"} xref: SCTID:312132001 {source="MONDO:equivalentTo", source="UMLS:C0015407"} xref: UMLS:C0015407 {source="MONDO:equivalentTo"} is_a: EFO:0000763 {source="MESH:D015828"} ! viral disease is_a: MONDO:0043885 {source="MESH:D015828"} ! eye infectious disorder property_value: exactMatch http://identifiers.org/mesh/D015828 property_value: exactMatch http://identifiers.org/snomedct/312132001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015407 [Term] id: MONDO:0021002 name: syndactyly def: "A disease characterized by the presence of syndactyly, including syndromic and non-syndromic forms." [https://orcid.org/0000-0002-6601-2165] synonym: "syndactyly (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:11193 {source="MONDO:equivalentTo"} xref: HP:0001159 {source="MONDO:otherHierarchy"} xref: ICD9:755.1 {source="DOID:11193"} xref: MedDRA:10042778 {source="Orphanet:90025"} xref: MESH:D013576 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo", source="DOID:11193", source="Orphanet:90025"} xref: UMLS:C0039075 {source="MONDO:equivalentTo", source="DOID:11193", source="Orphanet:90025"} is_a: MONDO:0018454 ! dysostosis of genetic origin property_value: closeMatch http://identifiers.org/meddra/10042778 property_value: exactMatch DOID:11193 property_value: exactMatch http://identifiers.org/mesh/D013576 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039075 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4051 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4285 xsd:anyURI property_value: IAO:0000589 "syndactyly (disease)" xsd:string [Term] id: MONDO:0021003 name: polydactyly def: "A disease characterized by the presence of polydactyly, including syndromic and non-syndromic forms." [https://orcid.org/0000-0002-6601-2165] synonym: "hyperdactyly" EXACT [NCIT:C87110] synonym: "polydactylism" EXACT [NCIT:C87110] synonym: "polydactyly" EXACT [MONDO:ambiguous, OMIM:603596] synonym: "polydactyly (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "postaxial polydactyly" RELATED [DOID:1148] synonym: "supernumerary digit" RELATED [DOID:1148] xref: DOID:1148 {source="MONDO:equivalentTo"} xref: HP:0010442 {source="MONDO:otherHierarchy"} xref: ICD9:755.0 {source="DOID:1148"} xref: ICD9:755.00 {source="DOID:1148", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10036063 {source="Orphanet:2913"} xref: MESH:D017689 {source="https://orcid.org/0000-0003-1967-3726", source="DOID:1148", source="MONDO:equivalentTo", source="Orphanet:2913"} xref: NCIT:C87110 {source="DOID:1148", source="MONDO:equivalentTo"} xref: OMIM:603596 {source="DOID:1148", source="MONDO:equivalentTo", source="Orphanet:2913"} xref: SCTID:367506006 {source="DOID:1148", source="MONDO:equivalentTo"} is_a: MONDO:0018454 ! dysostosis of genetic origin property_value: closeMatch http://identifiers.org/meddra/10036063 property_value: exactMatch DOID:1148 property_value: exactMatch http://identifiers.org/mesh/D017689 property_value: exactMatch http://identifiers.org/snomedct/367506006 property_value: exactMatch https://omim.org/entry/603596 property_value: exactMatch NCIT:C87110 property_value: IAO:0000589 "polydactyly (disease)" xsd:string [Term] id: MONDO:0021004 name: brachydactyly def: "A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms." [https://orcid.org/0000-0002-6601-2165] synonym: "brachydactyly" EXACT [DOID:0050581] synonym: "brachydactyly (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0050581 {source="MONDO:equivalentTo"} xref: HP:0001156 {source="MONDO:otherHierarchy"} xref: MESH:D059327 {source="MONDO:equivalentTo"} is_a: MONDO:0018454 ! dysostosis of genetic origin property_value: exactMatch DOID:0050581 property_value: exactMatch http://identifiers.org/mesh/D059327 property_value: IAO:0000589 "brachydactyly (disease)" xsd:string [Term] id: MONDO:0021005 name: faciodigitogenital syndrome def: "A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. This includes X-linked, AR and AD forms of Aarskog syndrome." [MONDO:cjm] synonym: "Aarskog syndrome" NARROW [] synonym: "Aarskog-Scott syndrome" NARROW [] synonym: "faciogenital dysplasia" RELATED [] xref: DOID:0111824 {source="MONDO:equivalentTo"} xref: MedDRA:10067148 {source="Orphanet:915/e"} xref: Orphanet:915 {source="MONDO:equivalentTo"} is_a: MONDO:0015620 {source="Orphanet:915-abstracted"} ! syndromic urogenital tract malformation property_value: closeMatch http://identifiers.org/meddra/10067148 property_value: exactMatch DOID:0111824 property_value: exactMatch Orphanet:915 [Term] id: MONDO:0021009 name: salivary gland mucoepidermoid carcinoma def: "A carcinoma that arises from the salivary glands. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome." [NCIT:C5908] synonym: "mucoepidermoid carcinoma of salivary gland" EXACT [NCIT:C5908] synonym: "mucoepidermoid carcinoma of the salivary gland" EXACT [NCIT:C5908] synonym: "saliva-secreting gland mucoepidermoid carcinoma" EXACT [MONDO:patterns/location] synonym: "salivary gland mucoepidermoid carcinoma" EXACT [NCIT:C5908] xref: DOID:0081293 {source="MONDO:equivalentTo"} xref: NCIT:C5908 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:423708008 {source="MONDO:equivalentTo"} xref: UMLS:C1335903 {source="NCIT:C5908", source="MONDO:equivalentTo"} is_a: MONDO:0000521 {source="MONDO:Redundant", source="NCIT:C5908"} ! salivary gland carcinoma is_a: MONDO:0044964 ! oral cavity mucoepidermoid carcinoma property_value: exactMatch DOID:0081293 property_value: exactMatch http://identifiers.org/snomedct/423708008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335903 property_value: exactMatch NCIT:C5908 [Term] id: MONDO:0021017 name: synaptopathy def: "A disease caused by dysfunction of synapses." [Wikipedia:Synaptopathy] is_a: EFO:0000618 {source="https://orcid.org/0000-0001-5208-3432"} ! nervous system disease [Term] id: MONDO:0021018 name: autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) def: "Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3." [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021627/, Orphanet:34516] comment: Terminology note: Autosomal dominant LGMD mapped to 7q36 has been classified as LGMD1E in OMIM, but as LGMD1D in the Human Gene Nomenclature Committee Database. In the literature there is another LGMD1D/E erroneously mapped to 6q, but we will use the acronym LGMD1D for the 7q-disease and LGMD1E for the 6q-form. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3 {source="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021627/"} subset: ordo_disease {source="Orphanet:34516"} synonym: "autosomal dominant limb-girdle muscular dystrophy caused by mutation in DNAJB6" EXACT [MONDO:design_pattern] synonym: "autosomal dominant limb-girdle muscular dystrophy type 1D" RELATED [Orphanet:34516] synonym: "autosomal dominant limb-girdle muscular dystrophy type 1E" RELATED DEPRECATED [DOID:0110305] synonym: "DNAJB6 autosomal dominant limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "LGMD1D" EXACT ABBREVIATION [Orphanet:34516] synonym: "LGMD1D (DNAJB6)" EXACT [MONDO:cjm] synonym: "LGMD1E" RELATED DEPRECATED [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021627/, MONDO:Lexical, OMIM:603511] synonym: "LGMD1E (Bushby and Beckmann, 2003)" RELATED DEPRECATED [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021627/, OMIM:603511] synonym: "limb-girdle muscular dystrophy type 1D" RELATED [GARD:0012528] synonym: "muscular dystrophy limb-girdle type 1D" RELATED [DOID:0110305] synonym: "muscular dystrophy limb-girdle type 1E" RELATED DEPRECATED [DOID:0110305] synonym: "muscular dystrophy, limb-girdle, autosomal dominant 1" EXACT [OMIM:603511, OMIM:genemap2] synonym: "muscular dystrophy, limb-girdle, type 1D" RELATED [OMIM:603511] synonym: "muscular dystrophy, limb-girdle, type 1D, formerly" RELATED [OMIM:603511] synonym: "muscular dystrophy, limb-girdle, type 1E" RELATED DEPRECATED [MONDO:Lexical, OMIM:603511] xref: DOID:0110305 {source="MONDO:equivalentTo"} xref: MESH:C566370 {source="MONDO:equivalentTo"} xref: OMIM:603511 {source="Orphanet:34516", source="MONDO:equivalentTo", source="Orphanet:34516/e", source="https://orcid.org/0000-0002-6601-2165"} xref: Orphanet:34516 {source="DOID:0110305", source="MONDO:equivalentTo"} xref: UMLS:C3148763 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:directSiblingOf"} xref: UMLS:C3501858 {source="Orphanet:34516", source="MONDO:equivalentTo"} is_a: MONDO:0015151 {source="DOID:0110305", source="MONDO:Redundant", source="OMIM:603511", source="Orphanet:34516"} ! muscular dystrophy, limb-girdle, autosomal dominant property_value: exactMatch DOID:0110305 property_value: exactMatch http://identifiers.org/mesh/C566370 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3501858 property_value: exactMatch https://omim.org/entry/603511 property_value: exactMatch Orphanet:34516 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0021019 name: X-linked recessive ocular albinism def: "X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males." [Orphanet:54] subset: ordo_disease {source="Orphanet:54"} synonym: "albinism, ocular, type 1" RELATED [OMIM:300500] synonym: "albinism, ocular, type I" RELATED [MONDO:Lexical, OMIM:300500] synonym: "Nettleship-Falls syndrome" EXACT [NCIT:C118785] synonym: "Nettleship-Falls type ocular albinism" RELATED [OMIM:300500] synonym: "OA1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300500, Orphanet:54] synonym: "ocular albinism type 1" EXACT [Orphanet:54] synonym: "ocular albinism, Nettleship-Falls type" EXACT [Orphanet:54] synonym: "ocular albinism, type I, Nettleship-Falls type" EXACT [OMIM:300500, OMIM:genemap2] synonym: "X-linked ocular albinism" RELATED [GARD:0008471] synonym: "XLOA" EXACT ABBREVIATION [Orphanet:54] xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537863 {source="Orphanet:54", source="MONDO:equivalentTo", source="Orphanet:54/e"} xref: NCIT:C118785 {source="MONDO:equivalentTo"} xref: OMIM:300500 {source="Orphanet:54", source="MONDO:equivalentTo", source="Orphanet:54/e"} xref: Orphanet:54 {source="MONDO:equivalentTo", source="OMIM:300500"} xref: SCTID:78642008 {source="MONDO:equivalentTo"} xref: UMLS:C0342684 {source="Orphanet:54", source="NCIT:C118785", source="MONDO:equivalentTo", source="Orphanet:54/e", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300500"} is_a: MONDO:0017304 {source="MESH:C537863", source="MONDO:Redundant", source="Orphanet:54"} ! ocular albinism is_a: MONDO:0020605 ! X-linked recessive disease property_value: exactMatch http://identifiers.org/mesh/C537863 property_value: exactMatch http://identifiers.org/snomedct/78642008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342684 property_value: exactMatch https://omim.org/entry/300500 property_value: exactMatch NCIT:C118785 property_value: exactMatch Orphanet:54 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0021020 name: Crigler-Najjar syndrome type 1 def: "Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS, a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT)." [Orphanet:79234] subset: gard_rare {source="GARD:0000047"} subset: ordo_clinical_subtype {source="Orphanet:79234"} synonym: "bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1" EXACT [Orphanet:79234] synonym: "bilirubin-UGT deficiency type 1" EXACT [Orphanet:79234] synonym: "Crigler Najjar syndrome, type 1" RELATED [GARD:0000047] synonym: "Crigler-Najjar syndrome, type 1" EXACT [OMIM:218800] synonym: "Crigler-Najjar syndrome, type I" EXACT [OMIM:218800] synonym: "hereditary unconjugated hyperbilirubinemia type 1" EXACT [Orphanet:79234] synonym: "hyperbilirubinemia, Crigler-Najjar type 1" EXACT [OMIM:218800] synonym: "UGT deficiency type 1" EXACT [Orphanet:79234] xref: MedDRA:10057034 {source="Orphanet:79234/e", source="Orphanet:79234"} xref: OMIM:218800 {source="Orphanet:205", source="Orphanet:79234/e", source="MONDO:equivalentTo", source="DOID:3803", source="Orphanet:79234"} xref: Orphanet:79234 {source="MONDO:equivalentTo", source="OMIM:218800"} xref: SCTID:8933000 {source="MONDO:equivalentTo"} is_a: MONDO:0009044 {source="Orphanet:79234"} ! Crigler-Najjar syndrome property_value: closeMatch http://identifiers.org/meddra/10057034 property_value: exactMatch http://identifiers.org/snomedct/8933000 property_value: exactMatch https://omim.org/entry/218800 property_value: exactMatch Orphanet:79234 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/47/crigler-najjar-syndrome-type-1 xsd:anyURI {source="GARD:0000047"} [Term] id: MONDO:0021022 name: hereditary hyperekplexia def: "Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses." [Orphanet:3197] subset: ordo_disease {source="Orphanet:3197"} synonym: "congenital stiff man syndrome" EXACT [DOID:0060695, Orphanet:3197] synonym: "familial startle disease" EXACT [DOID:0060695, Orphanet:3197] synonym: "hereditary hyperekplexia" EXACT [DOID:0060695, MONDO:patterns/hereditary] synonym: "hereditary hyperexplexia" EXACT [Orphanet:3197] synonym: "hyperekplexia" BROAD [Orphanet:3197] synonym: "hyperexplexia hereditary" RELATED [GARD:0003129] synonym: "Kok disease" EXACT [DOID:0060695, Orphanet:3197] synonym: "startle disease" EXACT [DOID:0060695] synonym: "Stiff baby syndrome" EXACT [Orphanet:3197] xref: DOID:0060695 {source="MONDO:equivalentTo"} xref: OMIMPS:149400 {source="MONDO:equivalentTo"} xref: Orphanet:3197 {source="DOID:0060695", source="MONDO:equivalentTo"} xref: SCTID:724351008 {source="MONDO:equivalentTo"} is_a: MONDO:0017658 {source="MONDO:Redundant", source="Orphanet:3197"} ! hyperekplexia is_a: MONDO:0019253 {source="Orphanet:3197"} ! metabolic disease involving other neurotransmitter deficiency intersection_of: MONDO:0017658 ! hyperekplexia intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch DOID:0060695 property_value: exactMatch http://identifiers.org/snomedct/724351008 property_value: exactMatch https://omim.org/phenotypicSeries/PS149400 property_value: exactMatch Orphanet:3197 [Term] id: MONDO:0021023 name: complete androgen insensitivity syndrome def: "Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens." [Orphanet:99429] subset: gard_rare {source="GARD:0010597"} subset: ordo_disease {source="Orphanet:99429"} synonym: "androgen insensitivity syndrome, complete" RELATED [GARD:0010597] synonym: "CAIS" EXACT ABBREVIATION [Orphanet:99429] synonym: "complete androgen resistance syndrome" EXACT [Orphanet:99429] xref: DOID:0080775 {source="MONDO:equivalentTo"} xref: ICD10CM:E34.51 {source="MONDO:equivalentTo"} xref: NCIT:C120191 {source="MONDO:equivalentTo"} xref: Orphanet:99429 {source="MONDO:equivalentTo", source="OMIM:300068"} xref: SCTID:368851000119102 {source="MONDO:equivalentTo"} xref: UMLS:CN207337 {source="MONDO:equivalentTo"} is_a: MONDO:0019154 {source="NCIT:C120191", source="Orphanet:99429"} ! androgen insensitivity syndrome property_value: exactMatch DOID:0080775 property_value: exactMatch http://identifiers.org/snomedct/368851000119102 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207337 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E34.51 property_value: exactMatch NCIT:C120191 property_value: exactMatch Orphanet:99429 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10597/complete-androgen-insensitivity-syndrome xsd:anyURI {source="GARD:0010597"} [Term] id: MONDO:0021024 name: malaria, susceptibility to subset: predisposition synonym: "malaria, cerebral, reduced risk of" EXACT [OMIM:611162, OMIM:genemap2] synonym: "malaria, cerebral, resistance to" EXACT [OMIM:611162] synonym: "malaria, cerebral, susceptibility to" EXACT [OMIM:611162] synonym: "malaria, protection against" EXACT [OMIM:611162, OMIM:genemap2] synonym: "malaria, resistance to" EXACT [OMIM:611162, OMIM:genemap2] synonym: "malaria, Severe, resistance to" EXACT [OMIM:611162] synonym: "malaria, Severe, susceptibility to" EXACT [OMIM:611162] synonym: "malaria, susceptibility to" EXACT [OMIM:611162] synonym: "malaria, vivax, protection against" EXACT [OMIM:611162, OMIM:genemap2] synonym: "resistance to malaria due to G6PD deficiency" EXACT [OMIM:611162, OMIM:genemap2] xref: OMIM:611162 {source="MONDO:equivalentTo", source="Orphanet:673"} is_a: MONDO:0015979 ! hereditary predisposition to infections intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: predisposes_towards EFO:0001068 ! malaria relationship: predisposes_towards EFO:0001068 ! malaria property_value: exactMatch https://omim.org/entry/611162 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0021026 name: hereditary epidermal appendage anomaly def: "An instance of epidermal appendage anomaly that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] synonym: "genetic epidermal appendage anomaly" EXACT [MONDO:patterns/genetic] xref: Orphanet:183447 {source="MONDO:0021027", source="MONDO:equivalentTo"} is_a: MONDO:0019277 {source="MONDO:Redundant", source="MONDO:cjm"} ! epidermal appendage anomaly is_a: MONDO:0100118 ! hereditary skin disorder intersection_of: MONDO:0019277 ! epidermal appendage anomaly intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch Orphanet:183447 [Term] id: MONDO:0021027 name: obsolete genetic hair anomaly def: "OBSOLETE. An instance of hair anomaly that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] synonym: "genetic hair anomaly" EXACT [MONDO:patterns/genetic] xref: Orphanet:183450 {source="MONDO:0021027", source="MONDO:obsoleteEquivalent"} property_value: exactMatch Orphanet:183450 property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingMorpho", source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI is_obsolete: true consider: MONDO:0019278 [Term] id: MONDO:0021028 name: obsolete genetic nail anomaly def: "OBSOLETE. An instance of nail anomaly that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] synonym: "genetic nail anomaly" EXACT [MONDO:patterns/genetic] xref: Orphanet:183454 {source="MONDO:0021028", source="MONDO:obsoleteEquivalent"} property_value: exactMatch Orphanet:183454 property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingMorpho", source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI is_obsolete: true consider: MONDO:0019283 [Term] id: MONDO:0021029 name: hereditary sebaceous gland anomaly def: "An instance of sebaceous gland anomaly that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] synonym: "genetic sebaceous gland anomaly" EXACT [MONDO:patterns/genetic] xref: Orphanet:183460 {source="MONDO:0021029", source="MONDO:equivalentTo"} is_a: MONDO:0019286 ! sebaceous gland anomaly is_a: MONDO:0021026 {source="MONDO:Redundant", source="Orphanet:183460"} ! hereditary epidermal appendage anomaly intersection_of: MONDO:0019286 ! sebaceous gland anomaly intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch Orphanet:183460 [Term] id: MONDO:0021034 name: hereditary alopecia def: "An instance of alopecia that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: obsoletion_candidate synonym: "genetic alopecia" EXACT [MONDO:patterns/genetic] xref: Orphanet:481771 {source="MONDO:equivalentTo", source="MONDO:0021034"} is_a: MONDO:0004907 {source="MONDO:Redundant", source="MONDO:cjm"} ! alopecia is_a: MONDO:0021026 ! hereditary epidermal appendage anomaly intersection_of: MONDO:0004907 ! alopecia intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch Orphanet:481771 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0021036 name: keratosis pilaris def: "A form of dry skin characterized by hair follicles plugged by scale." [https://www.dermnetnz.org/topics/keratosis-pilaris/] synonym: "KP" EXACT ABBREVIATION [NCIT:C124070] xref: NCIT:C124070 {source="MONDO:equivalentTo"} xref: SCTID:5132005 {source="MONDO:equivalentTo"} is_a: EFO:0000701 {source="NCIT:C124070/inferred"} ! skin disease property_value: exactMatch http://identifiers.org/snomedct/5132005 property_value: exactMatch NCIT:C124070 [Term] id: MONDO:0021038 name: Ewing sarcoma/peripheral primitive neuroectodermal tumor def: "A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms." [NCIT:C27291] synonym: "EFTs" EXACT [NCIT:C27291] synonym: "Ewing family of tumors" EXACT [NCIT:C27291, Wikipedia:Ewing_family_of_tumors] synonym: "Ewing family of tumours" EXACT OMO:0003005 [] synonym: "Ewing sarcoma family of tumors" EXACT [NCIT:C27291] synonym: "Ewing sarcoma family of tumours" EXACT OMO:0003005 [] synonym: "Ewing sarcoma/peripheral PNET" EXACT [NCIT:C27291] synonym: "Ewing sarcoma/peripheral primitive neuroectodermal tumor" EXACT [NCIT:C27291] synonym: "Ewing's family of tumors" EXACT [NCIT:C27291] synonym: "Ewing's family of tumours" EXACT OMO:0003005 [] synonym: "Ewing's sarcoma/peripheral primitive neuroectodermal tumor" EXACT [NCIT:C27291] synonym: "Ewing's sarcoma/peripheral primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "tumors of Ewing's family" EXACT [NCIT:C27291] synonym: "tumors of the Ewing's family" EXACT [NCIT:C27291] synonym: "tumours of Ewing's family" EXACT OMO:0003005 [] synonym: "tumours of the Ewing's family" EXACT OMO:0003005 [] xref: NCIT:C27291 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: UMLS:C3536893 {source="MONDO:equivalentTo"} is_a: EFO:0005784 {source="NCIT:C27291"} ! embryonal neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3536893 property_value: exactMatch NCIT:C27291 [Term] id: MONDO:0021041 name: pleural solitary fibrous tumor def: "A localized neoplasm of probable fibroblastic derivation, that arises from the pleura. It is characterized by the presence of round to spindle-shaped cells, hylanized stroma formation, thin-walled branching blood vessels, and thin bands of collagen." [NCIT:C4457] synonym: "fibroma of pleura" EXACT [NCIT:C4457] synonym: "fibroma of the pleura" EXACT [NCIT:C4457] synonym: "localised fibrous mesothelioma of pleura" EXACT OMO:0003005 [] synonym: "localised fibrous mesothelioma of the pleura" EXACT OMO:0003005 [] synonym: "localized fibrous mesothelioma of pleura" EXACT [NCIT:C4457] synonym: "localized fibrous mesothelioma of the pleura" EXACT [NCIT:C4457] synonym: "pleura solitary fibrous tumor" EXACT [MONDO:patterns/location] synonym: "pleura solitary fibrous tumour" EXACT OMO:0003005 [] synonym: "pleural cavity solitary fibrous tumor" EXACT [MONDO:patterns/location] synonym: "pleural cavity solitary fibrous tumour" EXACT OMO:0003005 [] synonym: "pleural fibroma" EXACT [NCIT:C4457] synonym: "pleural solitary fibrous tumor" EXACT [NCIT:C4457] synonym: "pleural Submesothelial fibroma" EXACT [NCIT:C4457] synonym: "solitary fibrous tumor of pleura" EXACT [NCIT:C4457] synonym: "solitary fibrous tumor of the pleura" EXACT [NCIT:C4457] synonym: "solitary fibrous tumour of pleura" EXACT OMO:0003005 [] synonym: "solitary fibrous tumour of the pleura" EXACT OMO:0003005 [] xref: EFO:1000835 {source="MONDO:equivalentTo"} xref: NCIT:C4457 {source="MONDO:equivalentTo"} xref: SCTID:254646001 {source="MONDO:equivalentTo"} xref: UMLS:C0334511 {source="MONDO:relatedTo", source="NCIT:C4457"} is_a: MONDO:0016238 {source="MONDO:Redundant", source="NCIT:C4457"} ! solitary fibrous tumor is_a: MONDO:0021065 {source="MONDO:Redundant", source="NCIT:C4457"} ! pleural neoplasm property_value: exactMatch http://identifiers.org/snomedct/254646001 property_value: exactMatch NCIT:C4457 [Term] id: MONDO:0021043 name: mixed neoplasm def: "A neoplasm composed of at least two distinct cellular populations." [NCIT:C6930] synonym: "mixed neoplasm" EXACT [NCIT:C6930] synonym: "mixed tumor" EXACT [NCIT:C6930] synonym: "mixed tumour" EXACT OMO:0003005 [] xref: ICDO:8940/1 {source="NCIT:C6930"} xref: MESH:D018193 {source="MONDO:equivalentTo"} xref: NCIT:C6930 {source="MONDO:equivalentTo"} is_a: EFO:0000616 {source="MESH:D018193/inferred", source="NCIT:C6930/inferred"} ! neoplasm property_value: exactMatch http://identifiers.org/mesh/D018193 property_value: exactMatch NCIT:C6930 [Term] id: MONDO:0021046 name: breast fibroepithelial neoplasm def: "A benign or malignant biphasic neoplasm that arises from the breast parenchyma. It is characterized by the presence of an epithelial and a mesenchymal (stromal) component. The typical examples are fibroadenoma and phyllodes tumor." [NCIT:C40405] synonym: "BFN" RELATED ABBREVIATION [ONCOTREE:BFN] synonym: "breast fibroepithelial neoplasm" EXACT [MONDO:patterns/location, NCIT:C40405] synonym: "breast fibroepithelial neoplasms" RELATED [ONCOTREE:BFN] synonym: "breast fibroepithelial tumor" EXACT [NCIT:C40405] synonym: "breast fibroepithelial tumour" EXACT OMO:0003005 [] xref: NCIT:C40405 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:BFN {source="MONDO:equivalentTo"} xref: UMLS:C1511309 {source="NCIT:C40405", source="MONDO:equivalentTo"} is_a: EFO:0003869 {source="MONDO:Redundant", source="NCIT:C40405", source="ONCOTREE:BFN"} ! breast neoplasm is_a: EFO:0007271 {source="MONDO:Redundant", source="NCIT:C40405"} ! fibroepithelial neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511309 property_value: exactMatch NCIT:C40405 [Term] id: MONDO:0021047 name: breast phyllodes tumor def: "A benign, malignant, or borderline circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a spindle cell mesenchymal (stromal) component." [NCIT:C7575] synonym: "breast cystosarcoma phyllodes" EXACT [NCIT:C7575] synonym: "breast phyllodes neoplasm" EXACT [NCIT:C7575] synonym: "breast phyllodes tumor" EXACT [MONDO:patterns/location, NCIT:C7575] synonym: "cystosarcoma phyllodes of breast" EXACT [NCIT:C7575] synonym: "cystosarcoma phyllodes of the breast" EXACT [NCIT:C7575] synonym: "cystosarcoma phylloides - breast" EXACT [NCIT:C7575] synonym: "cystosarcoma phylloides of the breast" EXACT [NCIT:C7575] synonym: "phyllodes breast neoplasm" EXACT [NCIT:C7575] synonym: "phyllodes breast tumor" EXACT [NCIT:C7575] synonym: "phyllodes breast tumour" EXACT OMO:0003005 [] synonym: "phyllodes neoplasm of breast" EXACT [NCIT:C7575] synonym: "phyllodes neoplasm of the breast" EXACT [NCIT:C7575] synonym: "phyllodes tumor of breast" EXACT [NCIT:C7575] synonym: "phyllodes tumor of the breast" EXACT [NCIT:C7575] synonym: "phyllodes tumour of breast" EXACT OMO:0003005 [] synonym: "phyllodes tumour of the breast" EXACT OMO:0003005 [] xref: NCIT:C7575 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:PT {source="MONDO:equivalentTo"} xref: SCTID:712989008 {source="MONDO:equivalentTo"} is_a: EFO:0000653 {source="MONDO:Redundant", source="NCIT:C7575"} ! phyllodes tumor is_a: MONDO:0021046 {source="MONDO:Redundant", source="NCIT:C7575", source="ONCOTREE:PT"} ! breast fibroepithelial neoplasm property_value: exactMatch http://identifiers.org/snomedct/712989008 property_value: exactMatch NCIT:C7575 [Term] id: MONDO:0021049 name: vulvar neoplasm def: "A benign or malignant neoplasm that affects the vulva. Representative examples include Bartholin gland adenoma, vulvar nodular hidradenoma, vulvar carcinoma, and vulvar melanoma." [NCIT:C3443] synonym: "mammalian vulva neoplasm" EXACT [] synonym: "mammalian vulva neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "mammalian vulva tumor" EXACT [MONDO:patterns/neoplasm] synonym: "mammalian vulva tumour" EXACT OMO:0003005 [] synonym: "neoplasm of mammalian vulva" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the vulva" EXACT [NCIT:C3443] synonym: "neoplasm of vulva" EXACT [NCIT:C3443] synonym: "tumor of mammalian vulva" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the vulva" EXACT [NCIT:C3443] synonym: "tumor of vulva" EXACT [NCIT:C3443] synonym: "tumour of mammalian vulva" EXACT OMO:0003005 [] synonym: "tumour of the vulva" EXACT OMO:0003005 [] synonym: "tumour of vulva" EXACT OMO:0003005 [] synonym: "vulva neoplasm" EXACT [NCIT:C3443] synonym: "vulva tumor" EXACT [NCIT:C3443] synonym: "vulva tumour" EXACT OMO:0003005 [] synonym: "vulval neoplasm" EXACT [DOID:1245] synonym: "vulvar neoplasm" EXACT [DOID:1245, NCIT:C3443] synonym: "vulvar tumor" EXACT [DOID:1245, NCIT:C3443] synonym: "vulvar tumour" EXACT OMO:0003005 [] xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C3443 {source="MONDO:equivalentTo"} xref: SCTID:126922007 {source="MONDO:equivalentTo"} is_a: MONDO:0002187 {source="NCIT:C3443"} ! vulvar disease is_a: MONDO:0021148 {source="MONDO:Redundant", source="NCIT:C3443"} ! female reproductive system neoplasm property_value: exactMatch http://identifiers.org/snomedct/126922007 property_value: exactMatch NCIT:C3443 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0021052 name: parasympathetic paraganglioma def: "A benign or malignant, usually non-functioning, extra-adrenal paraganglioma that arises from paraganglia located along the parasympathetic nerves. Representative examples include aorticopulmonary, carotid body, jugulotympanic, and mediastinal paragangliomas." [NCIT:C4217] synonym: "paraganglioma of parasympathetic nervous system" EXACT [MONDO:design_pattern] synonym: "parasympathetic Extra-adrenal paraganglioma" EXACT [NCIT:C4217] synonym: "parasympathetic nervous system paraganglioma" EXACT [MONDO:patterns/location] synonym: "parasympathetic paraganglioma" EXACT [NCIT:C4217] synonym: "parasympathetic Paraganglionic neoplasm" EXACT [NCIT:C4217] xref: ICDO:8682/1 {source="NCIT:C4217"} xref: NCIT:C4217 {source="MONDO:equivalentTo"} xref: UMLS:C0334416 {source="MONDO:equivalentTo", source="NCIT:C4217"} is_a: EFO:1000453 {source="MONDO:Redundant", source="NCIT:C4217/inferred"} ! Paraganglioma is_a: MONDO:0044995 ! parasympathetic nervous system disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334416 property_value: exactMatch NCIT:C4217 [Term] id: MONDO:0021053 name: carotid body paraganglioma def: "A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia adjacent to or in the bifurcation of the common carotid artery. Most patients present with a slow growing, painless mass in the neck." [NCIT:C2932] synonym: "carotid body chemodectoma" RELATED [NCIT:C2932] synonym: "carotid body paraganglioma" EXACT [MONDO:patterns/location, NCIT:C2932] synonym: "carotid body tumor" RELATED [NCIT:C2932] synonym: "carotid body tumour" RELATED OMO:0003005 [] synonym: "chemodectoma" RELATED [NCIT:C2932] synonym: "chemodectoma, undetermined" RELATED [NCIT:C2932] synonym: "paraganglioma of carotid body" EXACT [NCIT:C2932] synonym: "paraganglioma of the carotid body" RELATED [NCIT:C2932] synonym: "tumor of carotid body" RELATED [NCIT:C2932] synonym: "tumor of the carotid body" RELATED [NCIT:C2932] synonym: "tumour of carotid body" RELATED OMO:0003005 [] synonym: "tumour of the carotid body" RELATED OMO:0003005 [] xref: ICDO:8692/1 {source="NCIT:C2932"} xref: NCIT:C2932 {source="MONDO:equivalentTo"} xref: UMLS:C0007279 {source="MONDO:equivalentTo", source="NCIT:C2932"} is_a: EFO:1000288 {source="NCIT:C2932"} ! Head and Neck Paraganglioma is_a: MONDO:0000473 ! arterial disorder is_a: MONDO:0021052 {source="NCIT:C2932"} ! parasympathetic paraganglioma is_a: MONDO:0021080 ! blood vessel neoplasm is_a: MONDO:0043218 ! neurovascular disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007279 property_value: exactMatch NCIT:C2932 [Term] id: MONDO:0021054 name: bone sarcoma def: "A sarcoma that arises from the bone. Representative examples are osteosarcoma and chondrosarcoma." [NCIT:C9312] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:223727"} synonym: "bone sarcoma" EXACT [MONDO:0016388, NCIT:C9312] synonym: "osseous sarcoma" EXACT [NCIT:C9312] synonym: "sarcoma of bone" EXACT [NCIT:C9312] synonym: "sarcoma of the bone" EXACT [NCIT:C9312] synonym: "skeletal sarcoma" EXACT [NCIT:C9312] xref: DOID:0080639 {source="MONDO:equivalentTo"} xref: ICD9:170.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10006007 {source="Orphanet:223727/e", source="Orphanet:223727"} xref: NCIT:C9312 {source="MONDO:equivalentTo"} xref: Orphanet:223727 {source="MONDO:equivalentTo"} xref: SCTID:448710000 {source="MONDO:equivalentTo"} xref: UMLS:C1704327 {source="Orphanet:223727/e", source="NCIT:C9312", source="MONDO:equivalentTo", source="Orphanet:223727"} is_a: EFO:0000691 {source="MONDO:Redundant", source="NCIT:C9312"} ! sarcoma is_a: EFO:1000350 {source="MONDO:Redundant", source="NCIT:C9312"} ! Malignant Bone Neoplasm property_value: closeMatch http://identifiers.org/meddra/10006007 property_value: exactMatch DOID:0080639 property_value: exactMatch http://identifiers.org/snomedct/448710000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1704327 property_value: exactMatch NCIT:C9312 property_value: exactMatch Orphanet:223727 [Term] id: MONDO:0021055 name: classic familial adenomatous polyposis def: "Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life." [Orphanet:733] subset: ordo_disease {source="Orphanet:733"} synonym: "adenomatous polyposis coli" EXACT [NCIT:C3339] synonym: "adenomatous polyposis of the colon" EXACT [DOID:0050424] synonym: "APC - adenomatous polyposis coli" EXACT [NCIT:C3339] synonym: "classic familial adenomatous polyposis" EXACT [] synonym: "classic FAP" EXACT [MONDO:cjm] synonym: "colorectal adenomatous polyposis" EXACT [Orphanet:733] synonym: "familial adenomatous polyposis" EXACT [DECIPHER:49, NCIT:C3339] synonym: "familial adenomatous polyposis coli" EXACT [NCIT:C3339] synonym: "familial adenomatous polyposis of the colon" RELATED [GARD:0006408] synonym: "familial adenomatous polyposis syndrome" EXACT [NCIT:C3339] synonym: "familial multiple polyposis" RELATED [GARD:0006408] synonym: "familial polyposis" EXACT [NCIT:C3339] synonym: "familial polyposis coli" EXACT [Orphanet:733] synonym: "FAP" EXACT ABBREVIATION [NCIT:C3339, Orphanet:733] synonym: "FPC" RELATED ABBREVIATION [GARD:0006408] synonym: "hereditary adenomatous polyposis coli" EXACT [NCIT:C3339] synonym: "hereditary polyposis coli" RELATED [GARD:0006408] synonym: "polyposis coli" EXACT [NCIT:C3339] xref: DECIPHER:49 {source="MONDO:equivalentTo"} xref: DOID:0050424 {source="MONDO:equivalentTo"} xref: ICDO:8220/0 {source="NCIT:C3339"} xref: MedDRA:10056981 {source="Orphanet:733", source="Orphanet:733/e"} xref: NCIT:C3339 {source="MONDO:equivalentTo", source="DOID:0050424"} xref: OMIMPS:175100 {source="MONDO:equivalentTo"} xref: Orphanet:733 {source="MONDO:equivalentTo"} xref: SCTID:72900001 {source="MONDO:equivalentTo", source="DOID:0050424"} xref: UMLS:C0032580 {source="Orphanet:733", source="MONDO:equivalentTo", source="DOID:0050424", source="Orphanet:733/e", source="NCIT:C3339"} xref: UMLS:CN240755 {source="MONDO:equivalentTo"} is_a: MONDO:0021057 {source="MONDO:cjm"} ! classic or attenuated familial adenomatous polyposis property_value: closeMatch http://identifiers.org/meddra/10056981 property_value: exactMatch DOID:0050424 property_value: exactMatch http://identifiers.org/snomedct/72900001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032580 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN240755 property_value: exactMatch https://omim.org/phenotypicSeries/PS175100 property_value: exactMatch NCIT:C3339 property_value: exactMatch Orphanet:733 [Term] id: MONDO:0021056 name: familial adenomatous polyposis 1 def: "Any attenuated familial adenomatous polyposis in which the cause of the disease is a mutation in the APC gene." [MONDO:patterns/disease_series_by_gene] synonym: "adenoma, periampullary, somatic" EXACT [OMIM:175100, OMIM:genemap2] synonym: "adenomatous polyposis coli" BROAD [OMIM:175100, OMIM:genemap2] synonym: "adenomatous polyposis coli, attenuated" RELATED [OMIM:175100] synonym: "adenomatous polyposis of the colon" RELATED [OMIM:175100] synonym: "APC attenuated familial adenomatous polyposis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "attenuated familial adenomatous polyposis caused by mutation in APC" EXACT [MONDO:design_pattern] synonym: "brain tumor-polyposis syndrome 2" RELATED [OMIM:175100] synonym: "familial adenomatous polyposis 1" EXACT [MONDO:Lexical, OMIM:175100] synonym: "familial adenomatous polyposis, attenuated" RELATED [OMIM:175100] synonym: "familial polyposis of the colon" RELATED [OMIM:175100] synonym: "FAP1" EXACT ABBREVIATION [OMIM:175100] synonym: "Gardner syndrome" RELATED [OMIM:175100] synonym: "polyposis, adenomatous intestinal" RELATED [OMIM:175100] xref: DOID:0080409 {source="MONDO:equivalentTo"} xref: OMIM:175100 {source="MONDO:equivalentTo"} xref: Orphanet:247806 {source="OMIM:175100", source="MONDO:directSiblingOf"} xref: Orphanet:79665 {source="OMIM:175100", source="MONDO:directSiblingOf"} xref: Orphanet:99818 {source="OMIM:175100", source="MONDO:directSiblingOf"} xref: UMLS:C0017097 {source="OMIM:175100", source="MONDO:directSiblingOf"} is_a: MONDO:0016362 {source="MONDO:Redundant", source="Orphanet:220460/btnt"} ! attenuated familial adenomatous polyposis is_a: MONDO:0021055 {source="DC-OMIM:175100", source="OMIM:175100"} ! classic familial adenomatous polyposis property_value: exactMatch DOID:0080409 property_value: exactMatch https://omim.org/entry/175100 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0021057 name: classic or attenuated familial adenomatous polyposis def: "An inherited diseases haracterized by the development of adenomas in the rectum and colon; classified into classic FAP and attenuated FAP." [MONDO:cjm] synonym: "classic or attenuated familial adenomatous polyposis" EXACT [] synonym: "classic or attenuated FAP" EXACT [] is_a: MONDO:0015185 {source="Orphanet:220460"} ! intestinal polyposis syndrome is_a: MONDO:0017128 {source="MONDO:Redundant", source="Orphanet:220460"} ! inherited digestive tract tumor is_a: MONDO:0018188 {source="Orphanet:220460"} ! hereditary intestinal polyposis is_a: MONDO:0021118 ! intestinal neoplasm [Term] id: MONDO:0021058 name: neoplastic syndrome def: "A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired." [NCIT:C54705] synonym: "cancer-related syndrome" EXACT [NCIT:C54705] synonym: "neoplastic syndrome" EXACT [NCIT:C54705] synonym: "tumor syndrome" EXACT [NCIT:C54705] synonym: "tumour syndrome" EXACT OMO:0003005 [] xref: NCIT:C54705 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C54705"} ! syndromic disease is_a: MONDO:0023370 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDO:indirect"} ! neoplastic disease or syndrome intersection_of: MONDO:0002254 ! syndromic disease intersection_of: disease_has_major_feature EFO:0000616 ! neoplasm relationship: disease_has_major_feature EFO:0000616 ! neoplasm relationship: has_characteristic MONDO:0021136 {source="MONDO:0016645"} ! rare property_value: exactMatch NCIT:C54705 [Term] id: MONDO:0021063 name: malignant colon neoplasm def: "A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma." [NCIT:C9242] synonym: "cancer of colon" EXACT [MONDO:patterns/cancer] synonym: "colon cancer" EXACT [MONDO:patterns/location] synonym: "colon neoplasm, malignant" EXACT [NCIT:C9242] synonym: "colon tumor, malignant" EXACT [NCIT:C9242] synonym: "malignant colon neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9242] synonym: "malignant colon tumor" EXACT [NCIT:C9242] synonym: "malignant colon tumour" EXACT OMO:0003005 [] synonym: "malignant colonic neoplasm" EXACT [NCIT:C9242] synonym: "malignant colonic tumor" EXACT [NCIT:C9242] synonym: "malignant colonic tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of colon" EXACT [MONDO:patterns/cancer, NCIT:C9242] synonym: "malignant neoplasm of the colon" EXACT [NCIT:C9242] synonym: "malignant tumor of colon" EXACT [NCIT:C9242] synonym: "malignant tumor of the colon" EXACT [NCIT:C9242] synonym: "malignant tumour of colon" EXACT OMO:0003005 [] synonym: "malignant tumour of the colon" EXACT OMO:0003005 [] xref: DOID:219 {source="EFO:0004288", source="MONDO:equivalentTo"} xref: ICD9:153 {source="DOID:219"} xref: ICD9:153.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:153.9 {source="DOID:219", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C9242 {source="MONDO:equivalentTo"} xref: SCTID:363406005 {source="DOID:219", source="MONDO:equivalentTo"} xref: UMLS:C0007102 {source="DOID:219", source="MONDO:equivalentTo", source="NCIT:C9242"} is_a: EFO:0004288 {source="MONDO:Redundant", source="NCIT:C9242"} ! colonic neoplasm is_a: MONDO:0005575 {source="DOID:219", source="MONDO:Redundant", source="NCIT:C9242"} ! colorectal cancer property_value: exactMatch DOID:219 property_value: exactMatch http://identifiers.org/snomedct/363406005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007102 property_value: exactMatch NCIT:C9242 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0021064 name: jugulotympanic paraganglioma def: "A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the base of the skull and middle ear." [NCIT:C3061] subset: gard_rare synonym: "basicranium parasympathetic paraganglioma" EXACT [MONDO:patterns/location] synonym: "glomus jugulare neoplasm" EXACT [NCIT:C3061] synonym: "glomus jugulare tumor" EXACT [NCIT:C3061] synonym: "glomus jugulare tumour" EXACT OMO:0003005 [] synonym: "Glomus tumor" RELATED [GARD:0010599] synonym: "Glomus tumour" RELATED OMO:0003005 [] synonym: "jugular body neoplasm" EXACT [] synonym: "jugular body neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "jugular body tumor" EXACT [MONDO:patterns/neoplasm] synonym: "jugular body tumour" EXACT OMO:0003005 [] synonym: "jugular paraganglioma" EXACT [NCIT:C3061] synonym: "jugulotympanic paraganglioma" EXACT [NCIT:C3061] synonym: "neoplasm of glomus jugulare" EXACT [NCIT:C3061] synonym: "neoplasm of jugular body" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the glomus jugulare" EXACT [NCIT:C3061] synonym: "Paraganglioma - glomus jugulare" RELATED [GARD:0010599] synonym: "parasympathetic paraganglioma of basicranium" EXACT [MONDO:design_pattern] synonym: "tumor of glomus jugulare" EXACT [NCIT:C3061] synonym: "tumor of jugular body" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the glomus jugulare" EXACT [NCIT:C3061] synonym: "tumour of glomus jugulare" EXACT OMO:0003005 [] synonym: "tumour of jugular body" EXACT OMO:0003005 [] synonym: "tumour of the glomus jugulare" EXACT OMO:0003005 [] xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8690/1 {source="NCIT:C3061"} xref: NCIT:C3061 {source="MONDO:equivalentTo"} xref: SCTID:127030001 {source="MONDO:equivalentTo"} xref: UMLS:C0017671 {source="NCIT:C3061", source="GARD:0010599", source="MONDO:equivalentTo"} is_a: EFO:1000288 {source="MONDO:Redundant", source="NCIT:C3061"} ! Head and Neck Paraganglioma is_a: MONDO:0002785 ! skull base neoplasm is_a: MONDO:0021052 {source="MONDO:Redundant", source="NCIT:C3061"} ! parasympathetic paraganglioma is_a: MONDO:0023603 ! hereditary disorder of connective tissue property_value: exactMatch http://identifiers.org/snomedct/127030001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017671 property_value: exactMatch NCIT:C3061 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5166 xsd:anyURI [Term] id: MONDO:0021065 name: pleural neoplasm def: "A benign or malignant neoplasm that involves the serous membrane that lines the lungs and thoracic cavity. Most pleural neoplasms are metastatic. Diffuse malignant mesothelioma is the most common primary malignant neoplasm of the pleura." [NCIT:C3332] synonym: "neoplasm of pleura" EXACT [MONDO:patterns/neoplasm, NCIT:C3332] synonym: "neoplasm of pleural cavity" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the pleura" EXACT [NCIT:C3332] synonym: "pleura neoplasm" EXACT [] synonym: "pleura neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "pleura tumor" EXACT [MONDO:patterns/neoplasm] synonym: "pleura tumour" EXACT OMO:0003005 [] synonym: "pleural cavity neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "pleural cavity tumor" EXACT [MONDO:patterns/neoplasm] synonym: "pleural cavity tumour" EXACT OMO:0003005 [] synonym: "pleural neoplasm" EXACT [NCIT:C3332] synonym: "pleural tumor" EXACT [NCIT:C3332] synonym: "pleural tumour" EXACT OMO:0003005 [] synonym: "tumor of pleura" EXACT [MONDO:patterns/neoplasm, NCIT:C3332] synonym: "tumor of the pleura" EXACT [NCIT:C3332] synonym: "tumour of pleura" EXACT OMO:0003005 [] synonym: "tumour of the pleura" EXACT OMO:0003005 [] xref: MESH:D010997 {source="MONDO:equivalentTo"} xref: NCIT:C3332 {source="MONDO:equivalentTo"} xref: ONCOTREE:PLEURA {source="MONDO:equivalentTo"} xref: SCTID:126719004 {source="MONDO:equivalentTo"} xref: UMLS:C0032229 {source="MONDO:equivalentTo", source="NCIT:C3332"} is_a: EFO:0003853 ! respiratory system neoplasm is_a: MONDO:0002037 {source="MONDO:Redundant", source="NCIT:C3332"} ! pleural disorder property_value: exactMatch http://identifiers.org/mesh/D010997 property_value: exactMatch http://identifiers.org/snomedct/126719004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032229 property_value: exactMatch NCIT:C3332 [Term] id: MONDO:0021066 name: urinary system neoplasm def: "A benign or malignant, primary or metastatic neoplasm involving the urinary system. --2003" [NCIT:C3431] comment: Editor note: note the ONCOTREE class is more general than just bladder synonym: "neoplasm of renal system" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the urinary system" EXACT [NCIT:C3431] synonym: "neoplasm of the urinary tract" EXACT [NCIT:C3431] synonym: "neoplasm of urinary system" EXACT [NCIT:C3431] synonym: "neoplasm of urinary tract" EXACT [NCIT:C3431] synonym: "renal system neoplasm" EXACT [] synonym: "renal system neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "renal system tumor" EXACT [MONDO:patterns/neoplasm] synonym: "renal system tumour" EXACT OMO:0003005 [] synonym: "tumor of renal system" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the urinary system" EXACT [NCIT:C3431] synonym: "tumor of the urinary tract" EXACT [NCIT:C3431] synonym: "tumor of urinary system" EXACT [NCIT:C3431] synonym: "tumor of urinary tract" EXACT [NCIT:C3431] synonym: "tumour of renal system" EXACT OMO:0003005 [] synonym: "tumour of the urinary system" EXACT OMO:0003005 [] synonym: "tumour of the urinary tract" EXACT OMO:0003005 [] synonym: "tumour of urinary system" EXACT OMO:0003005 [] synonym: "tumour of urinary tract" EXACT OMO:0003005 [] synonym: "urinary system neoplasm" EXACT [NCIT:C3431] synonym: "urinary system tumor" EXACT [NCIT:C3431] synonym: "urinary system tumour" EXACT OMO:0003005 [] synonym: "urinary tract neoplasm" EXACT [NCIT:C3431] synonym: "urinary tract tumor" EXACT [NCIT:C3431] synonym: "urinary tract tumour" EXACT OMO:0003005 [] xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C3431 {source="MONDO:equivalentTo"} xref: ONCOTREE:BLADDER {source="MONDO:equivalentTo"} xref: SCTID:126879004 {source="MONDO:equivalentTo"} is_a: EFO:0000616 {source="MONDO:Redundant", source="NCIT:C3431/inferred"} ! neoplasm is_a: EFO:0009690 ! urinary system disease property_value: exactMatch http://identifiers.org/snomedct/126879004 property_value: exactMatch NCIT:C3431 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0021067 name: mediastinal germ cell tumor def: "A germ cell tumor that arises from the mediastinum. Representative examples include seminoma, embryonal carcinoma, yolk sac tumor, teratoma, and mixed germ cell tumor." [NCIT:C6437] synonym: "germ cell neoplasm of mediastinum" EXACT [NCIT:C6437] synonym: "germ cell neoplasm of the mediastinum" EXACT [NCIT:C6437] synonym: "germ cell tumor of mediastinum" EXACT [NCIT:C6437] synonym: "germ cell tumor of the mediastinum" EXACT [NCIT:C6437] synonym: "germ cell tumour of mediastinum" EXACT OMO:0003005 [] synonym: "germ cell tumour of the mediastinum" EXACT OMO:0003005 [] synonym: "mediastinal germ cell neoplasm" EXACT [NCIT:C6437] synonym: "mediastinal germ cell tumor" EXACT [NCIT:C6437] synonym: "mediastinum germ cell tumor" EXACT [MONDO:patterns/location] synonym: "mediastinum germ cell tumour" EXACT OMO:0003005 [] synonym: "thymic germ cell tumor" EXACT [NCIT:C6437] synonym: "thymic germ cell tumour" EXACT OMO:0003005 [] xref: NCIT:C6437 {source="MONDO:equivalentTo"} xref: UMLS:C1334655 {source="MONDO:equivalentTo", source="NCIT:C6437"} is_a: MONDO:0018201 {source="NCIT:C6437"} ! extragonadal germ cell tumor is_a: MONDO:0021386 {source="MONDO:Redundant", source="NCIT:C6437"} ! neoplasm of mediastinum property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334655 property_value: exactMatch NCIT:C6437 [Term] id: MONDO:0021069 name: malignant endocrine neoplasm def: "A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma." [NCIT:C3575] synonym: "cancer of endocrine gland" EXACT [MONDO:patterns/cancer] synonym: "endocrine cancer" EXACT [NCIT:C3575] synonym: "endocrine gland cancer" EXACT [MONDO:patterns/location] synonym: "endocrine neoplasm" BROAD [DOID:170] synonym: "endocrine neoplasm, malignant" EXACT [NCIT:C3575] synonym: "Endocrine tumor" EXACT [DOID:170] synonym: "Endocrine tumour" EXACT OMO:0003005 [] synonym: "malignant endocrine gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3575] synonym: "malignant endocrine gland tumor" EXACT [NCIT:C3575] synonym: "malignant endocrine gland tumour" EXACT OMO:0003005 [] synonym: "malignant endocrine neoplasm" EXACT [NCIT:C3575] synonym: "malignant endocrine tumor" EXACT [NCIT:C3575] synonym: "malignant endocrine tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of endocrine gland" EXACT [MONDO:patterns/cancer, NCIT:C3575] synonym: "malignant neoplasm of the endocrine gland" EXACT [NCIT:C3575] synonym: "malignant tumor of endocrine gland" EXACT [DOID:170, NCIT:C3575] synonym: "malignant tumor of the endocrine gland" EXACT [NCIT:C3575] synonym: "malignant tumour of endocrine gland" EXACT OMO:0003005 [] synonym: "malignant tumour of the endocrine gland" EXACT OMO:0003005 [] synonym: "neoplasm of endocrine system" EXACT [DOID:170] xref: DOID:170 {source="MONDO:equivalentTo"} xref: ICD9:194.9 {source="DOID:170"} xref: MESH:D004701 {source="DOID:170", source="MONDO:equivalentTo"} xref: NCIT:C3575 {source="DOID:170", source="MONDO:equivalentTo"} is_a: EFO:0003769 {source="MONDO:Redundant", source="NCIT:C3575"} ! endocrine neoplasm is_a: MONDO:0004992 ! cancer property_value: exactMatch DOID:170 property_value: exactMatch http://identifiers.org/mesh/D004701 property_value: exactMatch NCIT:C3575 [Term] id: MONDO:0021072 name: sympathetic paraganglioma def: "A benign or malignant paraganglioma arising from the chromaffin cells of the paraganglia that are located along the sympathetic nerves. It includes extra-adrenal paragangliomas and paragangliomas that arise from the adrenal medulla. The latter are commonly referred to as pheochromocytomas. Representative examples of extra-adrenal sympathetic paragangliomas include the bladder, and superior and inferior paraaortic paragangliomas. Clinical signs are related to the secretion of catecholamines resulting in hypertension." [NCIT:C4216] synonym: "chromaffin neoplasm" EXACT [NCIT:C4216] synonym: "chromaffin tumor" EXACT [NCIT:C4216] synonym: "chromaffin tumour" EXACT OMO:0003005 [] synonym: "Chromaffinoma" EXACT [NCIT:C4216] synonym: "paraganglioma of sympathetic nervous system" EXACT [MONDO:design_pattern] synonym: "sympathetic nervous system paraganglioma" EXACT [MONDO:patterns/location] synonym: "sympathetic paraganglioma" EXACT [NCIT:C4216] synonym: "sympathetic Paraganglionic neoplasm" EXACT [NCIT:C4216] xref: ICDO:8681/1 {source="NCIT:C4216"} xref: MESH:C531777 {source="MONDO:equivalentTo"} xref: NCIT:C4216 {source="MONDO:equivalentTo"} xref: SCTID:399343007 {source="MONDO:equivalentTo"} is_a: EFO:0006858 {source="MONDO:Redundant", source="NCIT:C4216/inferred"} ! epithelial neoplasm is_a: EFO:1000453 {source="MONDO:Redundant", source="NCIT:C4216"} ! Paraganglioma is_a: MONDO:0044993 ! sympathetic nervous system disorder property_value: exactMatch http://identifiers.org/mesh/C531777 property_value: exactMatch http://identifiers.org/snomedct/399343007 property_value: exactMatch NCIT:C4216 [Term] id: MONDO:0021073 name: paraneoplastic syndrome def: "A classification for rare disorders of diverse organ systems (endocrine, neuromuscular, gastrointestinal, renal, dermatologic, rheumatologic, hematologic) that are affected by substances secreted by a distant neoplasm but not by the action of the neoplasm itself metastasizing to that organ or tissue. Less than 1 % of neoplasms are associated with these syndromes. An immune-mediated response to neoplasm-elaborated proteins may be the cause of these syndromes. Additionally, their manifestation may signal the presence of an occult neoplasm, potentially at an earlier stage of disease thereby leading to a better clinical outcome. Constitutional signs may include fever, night sweats, anorexia and cachexia. Clinical course is usually progressive. Prognosis is variable depending on the effective treatment of the underlying neoplasm." [NCIT:C3311] synonym: "paraneoplastic syndrome" EXACT [NCIT:C3311] xref: MESH:D010257 {source="MONDO:equivalentTo"} xref: NCIT:C3311 {source="MONDO:equivalentTo"} xref: SCTID:49783001 {source="MONDO:equivalentTo"} xref: UMLS:C0030472 {source="MONDO:equivalentTo", source="NCIT:C3311"} is_a: MONDO:0002254 {source="NCIT:C3311"} ! syndromic disease property_value: exactMatch http://identifiers.org/mesh/D010257 property_value: exactMatch http://identifiers.org/snomedct/49783001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030472 property_value: exactMatch NCIT:C3311 [Term] id: MONDO:0021074 name: precancerous condition def: "A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia." [NCIT:C3341] comment: Editor note: check classification. Also consider changing def, NCIT defines as disease. Also consider a grouping for this and paraneoplastic syndrome synonym: "precancerous condition" EXACT [NCIT:C3341] synonym: "precancerous state" EXACT [NCIT:C3341] synonym: "premalignant condition" EXACT [NCIT:C3341] synonym: "premalignant state" EXACT [NCIT:C3341] xref: MESH:D011230 {source="MONDO:equivalentTo"} xref: NCIT:C3341 {source="MONDO:equivalentTo"} is_a: MONDO:0045024 {source="MONDO:Redundant"} ! cancer or benign tumor property_value: exactMatch http://identifiers.org/mesh/D011230 property_value: exactMatch NCIT:C3341 [Term] id: MONDO:0021075 name: neoplastic polyp synonym: "neoplastic polyp" EXACT [NCIT:C7068] xref: NCIT:C7068 {source="MONDO:equivalentTo"} xref: UMLS:C1334941 {source="NCIT:C7068", source="MONDO:equivalentTo"} is_a: EFO:0000662 {source="NCIT:C7068"} ! polyp is_a: MONDO:0021074 {source="NCIT:C7068"} ! precancerous condition property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334941 property_value: exactMatch NCIT:C7068 [Term] id: MONDO:0021076 name: pancreatic exocrine neoplasm def: "A benign or malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue." [NCIT:C4445] synonym: "exocrine pancreas neoplasm" EXACT [NCIT:C4445] synonym: "exocrine pancreas neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "exocrine pancreas tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4445] synonym: "exocrine pancreas tumour" EXACT OMO:0003005 [] synonym: "neoplasm of exocrine pancreas" EXACT [MONDO:patterns/neoplasm, NCIT:C4445] synonym: "neoplasm of the exocrine pancreas" EXACT [NCIT:C4445] synonym: "pancreatic exocrine neoplasm" EXACT [NCIT:C4445] synonym: "pancreatic exocrine tumor" EXACT [NCIT:C4445] synonym: "pancreatic exocrine tumour" EXACT OMO:0003005 [] synonym: "tumor of exocrine pancreas" EXACT [MONDO:patterns/neoplasm, NCIT:C4445] synonym: "tumor of the exocrine pancreas" EXACT [NCIT:C4445] synonym: "tumour of exocrine pancreas" EXACT OMO:0003005 [] synonym: "tumour of the exocrine pancreas" EXACT OMO:0003005 [] xref: ICD9:235.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4445 {source="MONDO:equivalentTo"} xref: SCTID:254604005 {source="MONDO:equivalentTo"} xref: UMLS:C0345920 {source="MONDO:equivalentTo", source="NCIT:C4445"} is_a: EFO:0003860 {source="MONDO:Redundant", source="NCIT:C4445"} ! pancreatic neoplasm property_value: exactMatch http://identifiers.org/snomedct/254604005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345920 property_value: exactMatch NCIT:C4445 [Term] id: MONDO:0021077 name: cystic neoplasm def: "A benign or malignant neoplasm that contains a single or multiple cystic spaces. Examples include cystadenoma, mucinous cystadenocarcinoma, and serous cystadenocarcinoma." [NCIT:C6784] synonym: "cystic neoplasm" EXACT [NCIT:C6784] synonym: "cystic tumor" EXACT [NCIT:C6784] synonym: "cystic tumour" EXACT OMO:0003005 [] xref: NCIT:C6784 {source="MONDO:equivalentTo"} xref: UMLS:C1333190 {source="NCIT:C6784", source="MONDO:equivalentTo"} is_a: EFO:0000616 {source="NCIT:C6784/inferred"} ! neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333190 property_value: exactMatch NCIT:C6784 [Term] id: MONDO:0021078 name: glandular papilloma synonym: "glandular papilloma" EXACT [NCIT:C6880] xref: NCIT:C6880 {source="MONDO:equivalentTo"} xref: UMLS:C0205650 {source="NCIT:C6880", source="MONDO:directSiblingOf"} is_a: MONDO:0002363 {source="MONDO:Redundant", source="NCIT:C6880"} ! papilloma is_a: MONDO:0024276 {source="MONDO:Redundant", source="NCIT:C6880"} ! glandular cell neoplasm intersection_of: MONDO:0002363 {source="NCIT:C6880"} ! papilloma intersection_of: MONDO:0024276 {source="NCIT:C6880"} ! glandular cell neoplasm property_value: exactMatch NCIT:C6880 [Term] id: MONDO:0021079 name: childhood neoplasm def: "A benign or malignant neoplasm arising during childhood." [NCIT:C6283] synonym: "childhood neoplasm" EXACT [NCIT:C6283] synonym: "childhood neoplasm (disease)" EXACT [] synonym: "childhood tumor" EXACT [NCIT:C6283] synonym: "childhood tumour" EXACT OMO:0003005 [] synonym: "neoplasm (disease) of childhood" EXACT [MONDO:patterns/childhood] synonym: "paediatric neoplasm" EXACT OMO:0003005 [] synonym: "paediatric neoplasm (disease)" EXACT OMO:0003005 [] synonym: "paediatric tumour" EXACT OMO:0003005 [] synonym: "pediatric neoplasm" EXACT [NCIT:C6283] synonym: "pediatric neoplasm (disease)" EXACT [MONDO:patterns/childhood] synonym: "pediatric tumor" EXACT [NCIT:C6283] xref: NCIT:C6283 {source="MONDO:equivalentTo"} is_a: EFO:0000616 {source="MONDO:Redundant", source="NCIT:C6283/inferred"} ! neoplasm property_value: exactMatch NCIT:C6283 [Term] id: MONDO:0021080 name: blood vessel neoplasm def: "A neoplasm arising from arteries or veins." [NCIT:C7387] synonym: "blood vessel neoplasm" EXACT [NCIT:C7387] synonym: "blood vessel neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "blood vessel tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C7387] synonym: "blood vessel tumour" EXACT OMO:0003005 [] synonym: "neoplasm of blood vessel" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of blood vessel" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of blood vessel" EXACT OMO:0003005 [] xref: NCIT:C7387 {source="MONDO:equivalentTo"} xref: SCTID:126736007 {source="MONDO:equivalentTo"} is_a: EFO:0004264 ! vascular disease is_a: MONDO:0024296 {source="MONDO:Redundant", source="NCIT:C7387"} ! vascular neoplasm property_value: exactMatch http://identifiers.org/snomedct/126736007 property_value: exactMatch NCIT:C7387 [Term] id: MONDO:0021084 name: vision disorder def: "Any impairment to the vision." [NCIT:C35126] synonym: "disorder of vision" EXACT [] synonym: "disorder of visual system" BROAD [NCIT:C35126] synonym: "vision disorder" EXACT [NCIT:C35126] synonym: "visual disorder" EXACT [NCIT:C35126] synonym: "visual Field disorder" RELATED [NCIT:C35126] synonym: "visual system disorder" BROAD [NCIT:C35126] xref: MedDRA:10047518 xref: MESH:D014786 {source="MONDO:equivalentTo"} xref: NCIT:C35126 {source="MONDO:equivalentTo"} xref: SCTID:95677002 {source="MONDO:equivalentTo"} xref: UMLS:C0042790 {source="MONDO:equivalentTo", source="NCIT:C35126"} is_a: MONDO:0024417 ! perceptual disorders is_a: MONDO:0024458 ! disorder of visual system property_value: exactMatch http://identifiers.org/mesh/D014786 property_value: exactMatch http://identifiers.org/snomedct/95677002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042790 property_value: exactMatch NCIT:C35126 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4614 xsd:anyURI [Term] id: MONDO:0021086 name: gingival neoplasm def: "A benign or malignant neoplasm that affects the upper or lower gingiva." [NCIT:C3057] synonym: "gingiva neoplasm" EXACT [] synonym: "gingiva neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "gingiva tumor" EXACT [MONDO:patterns/neoplasm] synonym: "gingiva tumour" EXACT OMO:0003005 [] synonym: "gingival neoplasm" EXACT [NCIT:C3057] synonym: "gingival tumor" EXACT [NCIT:C3057] synonym: "gingival tumour" EXACT OMO:0003005 [] synonym: "gum neoplasm" EXACT [NCIT:C3057] synonym: "gum tumor" EXACT [NCIT:C3057] synonym: "gum tumour" EXACT OMO:0003005 [] synonym: "neoplasm of gingiva" EXACT [MONDO:patterns/neoplasm, NCIT:C3057] synonym: "neoplasm of gum" EXACT [NCIT:C3057] synonym: "neoplasm of the gingiva" EXACT [NCIT:C3057] synonym: "neoplasm of the gum" EXACT [NCIT:C3057] synonym: "tumor of gingiva" EXACT [MONDO:patterns/neoplasm, NCIT:C3057] synonym: "tumor of gum" EXACT [NCIT:C3057] synonym: "tumor of the gingiva" EXACT [NCIT:C3057] synonym: "tumor of the gum" EXACT [NCIT:C3057] synonym: "tumour of gingiva" EXACT OMO:0003005 [] synonym: "tumour of gum" EXACT OMO:0003005 [] synonym: "tumour of the gingiva" EXACT OMO:0003005 [] synonym: "tumour of the gum" EXACT OMO:0003005 [] xref: NCIT:C3057 {source="MONDO:equivalentTo"} xref: SCTID:126792007 {source="MONDO:equivalentTo"} xref: UMLS:C0017570 {source="MONDO:equivalentTo", source="NCIT:C3057"} is_a: EFO:0009670 {source="MONDO:Redundant"} ! gingival disease is_a: MONDO:0021192 ! odontogenic neoplasm property_value: exactMatch http://identifiers.org/snomedct/126792007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017570 property_value: exactMatch NCIT:C3057 [Term] id: MONDO:0021089 name: peripheral nervous system cancer def: "Malignant growth of cells in the peripheral nervous system (PNS)or Autonomic Nervous System (ANS), without specification as to location" [NCIT:C4961] synonym: "cancer of peripheral nervous system" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of peripheral nerve" EXACT [NCIT:C4961] synonym: "malignant neoplasm of peripheral nervous system" EXACT [MONDO:patterns/cancer, NCIT:C4961] synonym: "malignant neoplasm of PNS" EXACT [NCIT:C4961] synonym: "malignant neoplasm of the peripheral nerve" EXACT [NCIT:C4961] synonym: "malignant neoplasm of the peripheral nervous system" EXACT [NCIT:C4961] synonym: "malignant neoplasm of the PNS" EXACT [NCIT:C4961] synonym: "malignant neoplasms, peripheral nerve" EXACT [NCIT:C4961] synonym: "malignant peripheral nerve neoplasm" EXACT [NCIT:C4961] synonym: "malignant peripheral nerve tumor" EXACT [NCIT:C4961] synonym: "malignant peripheral nerve tumour" EXACT OMO:0003005 [] synonym: "malignant peripheral nervous system neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4961] synonym: "malignant peripheral nervous system tumor" EXACT [NCIT:C4961] synonym: "malignant peripheral nervous system tumour" EXACT OMO:0003005 [] synonym: "malignant PNS neoplasm" EXACT [NCIT:C4961] synonym: "malignant PNS tumor" EXACT [NCIT:C4961] synonym: "malignant PNS tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of peripheral nerve" EXACT [NCIT:C4961] synonym: "malignant tumor of peripheral nervous system" EXACT [NCIT:C4961] synonym: "malignant tumor of PNS" EXACT [NCIT:C4961] synonym: "malignant tumor of the peripheral nerve" EXACT [NCIT:C4961] synonym: "malignant tumor of the peripheral nervous system" EXACT [NCIT:C4961] synonym: "malignant tumor of the PNS" EXACT [NCIT:C4961] synonym: "malignant tumour of peripheral nerve" EXACT OMO:0003005 [] synonym: "malignant tumour of peripheral nervous system" EXACT OMO:0003005 [] synonym: "malignant tumour of PNS" EXACT OMO:0003005 [] synonym: "malignant tumour of the peripheral nerve" EXACT OMO:0003005 [] synonym: "malignant tumour of the peripheral nervous system" EXACT OMO:0003005 [] synonym: "malignant tumour of the PNS" EXACT OMO:0003005 [] synonym: "peripheral nervous system cancer" EXACT [MONDO:patterns/location] synonym: "peripheral nervous system neoplasms, malignant" EXACT [NCIT:C4961] xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4961 {source="MONDO:equivalentTo"} xref: SCTID:254986007 {source="MONDO:equivalentTo"} xref: UMLS:C0751428 {source="MONDO:equivalentTo", source="NCIT:C4961"} is_a: EFO:0002431 {source="MONDO:Redundant", source="NCIT:C4961"} ! tumour of cranial and spinal nerves is_a: EFO:0007392 {source="MONDO:Redundant", source="NCIT:C4961"} ! nervous system cancer property_value: exactMatch http://identifiers.org/snomedct/254986007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751428 property_value: exactMatch NCIT:C4961 [Term] id: MONDO:0021091 name: papillary cystadenoma def: "A serous or mucinous benign or low malignant potential cystic epithelial neoplasm. It is characterized by the presence of glandular epithelial cells forming papillary structures." [NCIT:C2974] synonym: "cystadenoma, papillary, benign" EXACT [NCIT:C2974] synonym: "papillary cystadenoma" EXACT [NCIT:C2974] xref: ICDO:8450/0 {source="NCIT:C2974"} xref: MESH:D018292 {source="MONDO:equivalentTo"} xref: NCIT:C2974 {source="MONDO:equivalentTo"} xref: UMLS:C0010636 {source="MONDO:equivalentTo", source="NCIT:C2974"} is_a: EFO:1000448 {source="MONDO:Redundant", source="NCIT:C2974"} ! Papillary Cystic Neoplasm is_a: MONDO:0002369 {source="MESH:D018292", source="MONDO:Redundant", source="NCIT:C2974"} ! cystadenoma is_a: MONDO:0002533 ! papillary adenoma intersection_of: EFO:1000448 {source="NCIT:C2974"} ! Papillary Cystic Neoplasm intersection_of: MONDO:0002369 {source="NCIT:C2974"} ! cystadenoma property_value: exactMatch http://identifiers.org/mesh/D018292 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010636 property_value: exactMatch NCIT:C2974 [Term] id: MONDO:0021092 name: fallopian tube neoplasm def: "A benign or malignant neoplasm affecting the fallopian tube. Representative examples of benign neoplasms include papilloma, adenofibroma, and leiomyoma. Representative examples of malignant neoplasms include carcinoma, carcinosarcoma, and adenosarcoma." [NCIT:C3032] synonym: "fallopian tube neoplasm" EXACT [NCIT:C3032] synonym: "fallopian tube neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "fallopian tube tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3032] synonym: "fallopian tube tumour" EXACT OMO:0003005 [] synonym: "neoplasm of fallopian tube" EXACT [MONDO:patterns/neoplasm, NCIT:C3032] synonym: "neoplasm of the fallopian tube" EXACT [NCIT:C3032] synonym: "tumor of fallopian tube" EXACT [MONDO:patterns/neoplasm, NCIT:C3032] synonym: "tumor of the fallopian tube" EXACT [NCIT:C3032] synonym: "tumour of fallopian tube" EXACT OMO:0003005 [] synonym: "tumour of the fallopian tube" EXACT OMO:0003005 [] xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D005185 {source="MONDO:equivalentTo"} xref: NCIT:C3032 {source="MONDO:equivalentTo"} xref: SCTID:126916003 {source="MONDO:equivalentTo"} xref: UMLS:C0015558 {source="NCIT:C3032", source="MONDO:equivalentTo"} is_a: EFO:0009548 {source="MONDO:Redundant", source="NCIT:C3032"} ! fallopian tube disease is_a: MONDO:0021148 {source="MONDO:Redundant", source="NCIT:C3032"} ! female reproductive system neoplasm property_value: exactMatch http://identifiers.org/mesh/D005185 property_value: exactMatch http://identifiers.org/snomedct/126916003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015558 property_value: exactMatch NCIT:C3032 [Term] id: MONDO:0021094 name: immunodeficiency disease def: "Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral." [NCIT:C3131-modified] synonym: "immuno-deficiency" EXACT [NCIT:C3131] synonym: "immunodeficiency" EXACT [NCIT:C3131] synonym: "immunodeficiency disorder" EXACT [NCIT:C3131] synonym: "immunodeficiency syndrome" RELATED [https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/18, NCIT:C3131] xref: ICD9:279.3 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3131 {source="NCIT:C3131", source="MONDO:equivalentTo"} xref: OMIMPS:300755 {source="MONDO:equivalentTo"} xref: SCTID:234532001 {source="MONDO:equivalentTo"} xref: UMLS:C0021051 {source="NCIT:C3131", source="MONDO:directSiblingOf"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0000540 {source="NCIT:C3131"} ! immune system disease property_value: exactMatch http://identifiers.org/snomedct/234532001 property_value: exactMatch https://omim.org/phenotypicSeries/PS300755 property_value: exactMatch NCIT:C3131 property_value: excluded_subClassOf MONDO:0002254 {source="NCIT:C3131", source="https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/18"} [Term] id: MONDO:0021095 name: parkinsonian disorder def: "A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA." [MESH:D020734] comment: Editor note: TODO xref: DOID:0080855 {source="MONDO:equivalentTo"} xref: MESH:D020734 {source="MONDO:equivalentTo"} is_a: EFO:0009533 {source="MESH:D020734"} ! basal ganglia disease property_value: exactMatch DOID:0080855 property_value: exactMatch http://identifiers.org/mesh/D020734 [Term] id: MONDO:0021096 name: papillary epithelial neoplasm synonym: "papillary epithelial neoplasm" EXACT [NCIT:C8429] xref: NCIT:C8429 {source="MONDO:equivalentTo"} xref: UMLS:C1335324 {source="MONDO:equivalentTo", source="NCIT:C8429"} is_a: EFO:0006858 {source="NCIT:C8429"} ! epithelial neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335324 property_value: exactMatch NCIT:C8429 [Term] id: MONDO:0021106 name: laminopathy def: "A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina." [Wikipedia:Laminopathy] subset: disease_grouping subset: ordo_group_of_disorders xref: MESH:D000083083 {source="MONDO:equivalentTo"} xref: Orphanet:98301 {source="MONDO:equivalentTo"} xref: UMLS:CN236383 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/D000083083 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN236383 property_value: exactMatch Orphanet:98301 [Term] id: MONDO:0021107 name: narcolepsy def: "A sleep disorder characterized by a tendency for excessive sleepiness during the day which occurs even after adequate sleep in the nighttime. The persons who suffer from this condition experience fatigue and may fall asleep at inappropriate times during the day." [NCIT:C84489] synonym: "narcolepsy" EXACT [NCIT:C84489] synonym: "narcolepsy, without cataplexy" NARROW [DOID:8986] synonym: "paroxysmal sleep" EXACT [DOID:8986] xref: DOID:8986 {source="MONDO:equivalentTo"} xref: ICD9:347.00 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D009290 {source="DOID:8986", source="Orphanet:2073/e", source="MONDO:equivalentTo", source="Orphanet:2073"} xref: NCIT:C84489 {source="MONDO:equivalentTo"} xref: OMIMPS:161400 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:619284 {source="MONDO:equivalentTo"} xref: SCTID:60380001 {source="MONDO:equivalentTo"} xref: UMLS:C0027404 {source="DOID:8986", source="Orphanet:2073/e", source="MONDO:equivalentTo", source="Orphanet:2073", source="NCIT:C84489"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0003406 {source="DOID:8986", source="MESH:D009290/inferred", source="NCIT:C84489"} ! sleep-wake disorder property_value: exactMatch DOID:8986 property_value: exactMatch http://identifiers.org/mesh/D009290 property_value: exactMatch http://identifiers.org/snomedct/60380001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027404 property_value: exactMatch https://omim.org/phenotypicSeries/PS161400 property_value: exactMatch NCIT:C84489 property_value: exactMatch Orphanet:619284 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0021108 name: meningitis def: "A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord." [NCIT:C26828] synonym: "inflammation of meninx" EXACT [] synonym: "meningitis" EXACT [NCIT:C26828] synonym: "meningitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "meninx inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: ICD9:322.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D008581 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: NCIT:C26828 {source="MONDO:equivalentTo"} xref: SCTID:7180009 {source="MONDO:equivalentTo"} is_a: EFO:0001423 ! encephalomyelitis union_of: EFO:1000823 ! aseptic meningitis union_of: EFO:1000831 ! bacterial meningitis property_value: exactMatch http://identifiers.org/mesh/D008581 property_value: exactMatch http://identifiers.org/snomedct/7180009 property_value: exactMatch NCIT:C26828 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5537 xsd:anyURI property_value: IAO:0000589 "meningitis (disease)" xsd:string [Term] id: MONDO:0021109 name: inverted urothelial papilloma def: "An endophytic lesion in the urinary tract which shares several morphologic features with urothelial papilloma. This lesion may recur after complete excision. Transitional cell carcinomas may arise within inverted urothelial papillomas." [NCIT:C6192] synonym: "inverted papilloma of urinary tract" EXACT [NCIT:C6192] synonym: "inverted urothelial papilloma" EXACT [NCIT:C6192] synonym: "IUP" RELATED ABBREVIATION [ONCOTREE:IUP] synonym: "urinary tract inverted papilloma" EXACT [NCIT:C6192] synonym: "urothelium inverted papilloma" EXACT [MONDO:patterns/location] xref: NCIT:C6192 {source="MONDO:equivalentTo"} xref: ONCOTREE:IUP {source="MONDO:equivalentTo"} xref: UMLS:C1334282 {source="MONDO:equivalentTo", source="NCIT:C6192"} is_a: MONDO:0003064 ! inverted transitional cell papilloma is_a: MONDO:0004041 {source="NCIT:C6192"} ! urothelial papilloma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334282 property_value: exactMatch NCIT:C6192 [Term] id: MONDO:0021110 name: sweat gland adenoma def: "A benign epithelial neoplasm arising from the sweat glands. Representative examples include tubular apocrine adenoma, syringofibroadenoma, and hidradenoma." [NCIT:C7560] synonym: "adenoma of sweat gland" EXACT [NCIT:C7560] synonym: "adenoma of the sweat gland" EXACT [NCIT:C7560] synonym: "adenoma, sweat gland, benign" EXACT [NCIT:C7560] synonym: "sweat gland adenoma" EXACT [MONDO:patterns/location, NCIT:C7560] xref: ICDO:8400/0 {source="NCIT:C7560"} xref: NCIT:C7560 {source="MONDO:equivalentTo"} is_a: EFO:0000232 {source="MONDO:Redundant", source="NCIT:C7560/inferred"} ! adenoma is_a: EFO:1001204 {source="MONDO:Redundant", source="NCIT:C7560/inferred"} ! sweat gland neoplasm is_a: MONDO:0021634 {source="MONDO:Redundant", source="NCIT:C7560/inferred"} ! epithelial skin neoplasm property_value: exactMatch NCIT:C7560 [Term] id: MONDO:0021114 name: Bartholin gland neoplasm def: "A benign or malignant neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma." [NCIT:C6434] synonym: "Bartholin gland neoplasm" EXACT [NCIT:C6434] synonym: "Bartholin's gland neoplasm" EXACT [NCIT:C6434] synonym: "Bartholin's gland tumor" EXACT [NCIT:C6434] synonym: "Bartholin's gland tumour" EXACT OMO:0003005 [] synonym: "major vestibular gland neoplasm" EXACT [] synonym: "major vestibular gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "major vestibular gland tumor" EXACT [MONDO:patterns/neoplasm] synonym: "major vestibular gland tumour" EXACT OMO:0003005 [] synonym: "neoplasm of Bartholin's gland" EXACT [NCIT:C6434] synonym: "neoplasm of major vestibular gland" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the Bartholin's gland" EXACT [NCIT:C6434] synonym: "tumor of Bartholin's gland" EXACT [NCIT:C6434] synonym: "tumor of major vestibular gland" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the Bartholin's gland" EXACT [NCIT:C6434] synonym: "tumour of Bartholin's gland" EXACT OMO:0003005 [] synonym: "tumour of major vestibular gland" EXACT OMO:0003005 [] synonym: "tumour of the Bartholin's gland" EXACT OMO:0003005 [] xref: NCIT:C6434 {source="MONDO:equivalentTo"} is_a: EFO:0010285 ! integumentary system disease is_a: MONDO:0021049 {source="MONDO:Redundant", source="NCIT:C6434"} ! vulvar neoplasm property_value: exactMatch NCIT:C6434 [Term] id: MONDO:0021115 name: luminal B breast carcinoma def: "A biologic subset of breast carcinoma defined by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. This subtype of breast cancer is associated with a good prognosis, although not as favorable as the luminal A subtype." [NCIT:C53555] synonym: "Luminal B" EXACT [NCIT:C53555] synonym: "Luminal B breast cancer" EXACT [NCIT:C53555] synonym: "Luminal B breast carcinoma" EXACT [NCIT:C53555] synonym: "Luminal B estrogen receptor positive subtype of breast carcinoma" EXACT [NCIT:C53555] synonym: "Luminal B oestrogen receptor positive subtype of breast carcinoma" EXACT OMO:0003005 [] synonym: "Luminal B subtype of breast carcinoma" EXACT [NCIT:C53555] xref: DOID:0080674 {source="MONDO:equivalentTo"} xref: NCIT:C53555 {source="MONDO:equivalentTo"} xref: UMLS:C3642346 {source="MONDO:equivalentTo", source="NCIT:C53555"} is_a: EFO:0000306 ! breast tumor luminal property_value: exactMatch DOID:0080674 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3642346 property_value: exactMatch NCIT:C53555 [Term] id: MONDO:0021116 name: luminal A breast carcinoma def: "A biologic subset of breast carcinoma defined by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. This subtype of breast cancer is associated with a good prognosis." [NCIT:C53554] synonym: "Luminal A" EXACT [NCIT:C53554] synonym: "Luminal A breast cancer" EXACT [NCIT:C53554] synonym: "Luminal A breast carcinoma" EXACT [NCIT:C53554] synonym: "Luminal A estrogen receptor positive subtype of breast carcinoma" EXACT [NCIT:C53554] synonym: "Luminal A oestrogen receptor positive subtype of breast carcinoma" EXACT OMO:0003005 [] synonym: "Luminal A subtype of breast carcinoma" EXACT [NCIT:C53554] xref: NCIT:C53554 {source="MONDO:equivalentTo"} xref: UMLS:C3642345 {source="MONDO:equivalentTo", source="NCIT:C53554"} is_a: EFO:0000306 ! breast tumor luminal property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3642345 property_value: exactMatch NCIT:C53554 [Term] id: MONDO:0021117 name: lung neoplasm def: "A benign or malignant, primary or metastatic neoplasm involving the lungs. Representative examples of benign neoplasms include adenoma, papilloma, chondroma, and endobronchial lipoma. Representative examples of malignant neoplasms include carcinoma, carcinoid tumor, sarcoma, and lymphoma." [NCIT:C3200] synonym: "lung" RELATED [ONCOTREE:LUNG] synonym: "lung neoplasm" EXACT [NCIT:C3200] synonym: "lung neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "lung neoplasms" EXACT [NCIT:C3200] synonym: "lung tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3200] synonym: "lung tumour" EXACT OMO:0003005 [] synonym: "neoplasm of lung" EXACT [MONDO:patterns/neoplasm, NCIT:C3200] synonym: "neoplasm of the lung" EXACT [NCIT:C3200] synonym: "neoplasm, lung" RELATED [MESH:D008175] synonym: "neoplasm, pulmonary" RELATED [MESH:D008175] synonym: "neoplasms, lung" RELATED [MESH:D008175] synonym: "neoplasms, pulmonary" RELATED [MESH:D008175] synonym: "tumor of lung" EXACT [MONDO:patterns/neoplasm, NCIT:C3200] synonym: "tumor of the lung" EXACT [NCIT:C3200] synonym: "tumour of lung" EXACT OMO:0003005 [] synonym: "tumour of the lung" EXACT OMO:0003005 [] xref: MESH:D008175 {source="MONDO:equivalentTo"} xref: NCIT:C3200 {source="MONDO:equivalentTo"} xref: ONCOTREE:LUNG {source="MONDO:equivalentTo"} is_a: EFO:0003818 {source="MESH:D008175", source="MONDO:Redundant", source="NCIT:C3200"} ! lung disease is_a: EFO:0003853 ! respiratory system neoplasm is_a: MONDO:0021350 {source="MONDO:Redundant", source="NCIT:C3200"} ! neoplasm of thorax property_value: exactMatch http://identifiers.org/mesh/D008175 property_value: exactMatch NCIT:C3200 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0021118 name: intestinal neoplasm def: "A benign or malignant neoplasm involving the small or large intestine." [NCIT:C3141] synonym: "bowel neoplasm" RELATED [ONCOTREE:BOWEL] synonym: "intestinal benign neoplasm" RELATED [DOID:4610] synonym: "intestinal neoplasm" EXACT [NCIT:C3141] synonym: "intestinal neoplasms" EXACT [NCIT:C3141] synonym: "intestinal tumor" EXACT [NCIT:C3141] synonym: "intestinal tumors" EXACT [DOID:4610, NCIT:C3141] synonym: "intestinal tumour" EXACT OMO:0003005 [] synonym: "intestinal tumours" EXACT OMO:0003005 [] synonym: "intestine growth" EXACT [DOID:4610] synonym: "intestine neoplasm" EXACT [] synonym: "intestine neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "intestine tumor" EXACT [MONDO:patterns/neoplasm] synonym: "intestine tumour" EXACT OMO:0003005 [] synonym: "neoplasm of intestinal tract" EXACT [DOID:4610] synonym: "neoplasm of intestine" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of intestines" EXACT [NCIT:C3141] synonym: "neoplasm of the intestines" EXACT [NCIT:C3141] synonym: "tumor of intestine" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of intestines" EXACT [NCIT:C3141] synonym: "tumor of the intestines" EXACT [NCIT:C3141] synonym: "tumour of intestine" EXACT OMO:0003005 [] synonym: "tumour of intestines" EXACT OMO:0003005 [] synonym: "tumour of the intestines" EXACT OMO:0003005 [] xref: DOID:4610 {source="MONDO:equivalentTo"} xref: NCIT:C3141 {source="DOID:4610", source="MONDO:equivalentTo"} xref: ONCOTREE:BOWEL {source="MONDO:equivalentTo"} xref: SCTID:126769007 {source="DOID:4610", source="MONDO:equivalentTo"} is_a: EFO:0008549 {source="MONDO:Redundant", source="NCIT:C3141"} ! digestive system neoplasm is_a: EFO:0009431 {source="DOID:4610", source="MONDO:Redundant", source="NCIT:C3141"} ! intestinal disease property_value: exactMatch DOID:4610 property_value: exactMatch http://identifiers.org/snomedct/126769007 property_value: exactMatch NCIT:C3141 [Term] id: MONDO:0021119 name: non-functioning endocrine neoplasm def: "A hormone producing or non-producing endocrine neoplasm, not associated with a hormonal syndrome." [NCIT:C94760] synonym: "endocrine-inactive tumor" EXACT [NCIT:C94760] synonym: "endocrine-inactive tumour" EXACT OMO:0003005 [] synonym: "non-functioning endocrine neoplasm" EXACT [NCIT:C94760] synonym: "nonfunctional Endocrine neoplasm" EXACT [NCIT:C94760] synonym: "nonfunctioning tumor" EXACT [NCIT:C94760] synonym: "nonfunctioning tumour" EXACT OMO:0003005 [] xref: NCIT:C94760 {source="MONDO:equivalentTo"} xref: UMLS:C2986656 {source="MONDO:equivalentTo", source="NCIT:C94760"} is_a: EFO:0003769 {source="MONDO:Redundant", source="NCIT:C94760"} ! endocrine neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2986656 property_value: exactMatch NCIT:C94760 [Term] id: MONDO:0021120 name: functioning endocrine neoplasm def: "A hormone producing endocrine neoplasm, associated with a hormonal syndrome." [NCIT:C94759] synonym: "functioning endocrine neoplasm" EXACT [NCIT:C94759] synonym: "functioning tumor" EXACT [NCIT:C94759] synonym: "functioning tumour" EXACT OMO:0003005 [] xref: ICDO:8158/1 {source="NCIT:C94759"} xref: NCIT:C94759 {source="MONDO:equivalentTo"} xref: UMLS:C2986655 {source="MONDO:equivalentTo", source="NCIT:C94759"} is_a: EFO:0003769 {source="MONDO:Redundant", source="NCIT:C94759"} ! endocrine neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2986655 property_value: exactMatch NCIT:C94759 [Term] id: MONDO:0021121 name: hemangioendothelioma def: "A vascular proliferation characterized by the presence of prominent endothelial cells and the formation of vascular channels. Hemangioendotheliomas may display borderline or low grade characteristics." [NCIT:C3084] synonym: "angioendothelioma" EXACT [NCIT:C3084] synonym: "hemangioendothelioma" EXACT [NCIT:C3084] xref: ICDO:9130/1 {source="NCIT:C3084"} xref: MESH:D006390 {source="MONDO:equivalentTo"} xref: NCIT:C3084 {source="MONDO:equivalentTo"} xref: SCTID:403980002 {source="MONDO:equivalentTo"} xref: UMLS:C0018915 {source="NCIT:C3084", source="GARD:0006557", source="MONDO:equivalentTo"} is_a: MONDO:0021080 {source="NCIT:C3084"} ! blood vessel neoplasm property_value: exactMatch http://identifiers.org/mesh/D006390 property_value: exactMatch http://identifiers.org/snomedct/403980002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018915 property_value: exactMatch NCIT:C3084 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6557/hemangioendothelioma xsd:anyURI {source="GARD:0006557"} [Term] id: MONDO:0021123 name: Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone def: "A spectrum of malignant tumors arising from the bone and characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms." [NCIT:C35871] synonym: "bone tissue Ewing sarcoma/peripheral primitive neuroectodermal tumor" EXACT [MONDO:patterns/location] synonym: "bone tissue Ewing sarcoma/peripheral primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone" EXACT [NCIT:C35871] synonym: "Ewing's sarcoma/peripheral primitive neuroectodermal tumor of bone" EXACT [NCIT:C35871] synonym: "Ewing's sarcoma/peripheral primitive neuroectodermal tumour of bone" EXACT OMO:0003005 [] xref: NCIT:C35871 {source="MONDO:equivalentTo"} xref: UMLS:C1333481 {source="MONDO:equivalentTo", source="NCIT:C35871"} is_a: EFO:0003820 ! bone neoplasm is_a: MONDO:0021038 {source="MONDO:Redundant", source="NCIT:C35871"} ! Ewing sarcoma/peripheral primitive neuroectodermal tumor property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333481 property_value: exactMatch NCIT:C35871 [Term] id: MONDO:0021126 name: syndromic or isolated def: "An characteristic of a disease that varies depending on whether the disease appears as an isolated feature or whether the disease is a syndrome consisting of multiple features." [MONDO:cjm] is_a: EFO:0009813 ! disease characteristic [Term] id: MONDO:0021127 name: has a syndromic presentation def: "An characteristic of a disease in which the disease is not manifested as an isolated feature but has multiple distinct features." [MONDO:cjm] is_a: MONDO:0021126 ! syndromic or isolated [Term] id: MONDO:0021128 name: has an isolated presentation def: "An characteristic of a disease in which the disease is manifested as an isolated feature." [MONDO:cjm] is_a: MONDO:0021126 ! syndromic or isolated [Term] id: MONDO:0021133 name: acquired factor XIII deficiency def: "An acquired coagulation disorder due to reduced levels and activity of factor XIII." [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1484527/, MONDO:cjm] subset: ordo_disorder synonym: "acquired factor XIII deficiency" EXACT [MONDO:patterns/acquired] synonym: "aFXIII" EXACT ABBREVIATION [Orphanet:599513] xref: NCIT:C131629 {source="MONDO:equivalentTo"} xref: Orphanet:599513 {source="MONDO:equivalentTo"} xref: UMLS:C0238120 {source="MONDO:equivalentTo", source="NCIT:C131629"} is_a: MONDO:0002241 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDO:indirect"} ! factor XIII deficiency is_a: MONDO:0020599 ! acquired coagulation factor deficiency intersection_of: MONDO:0002241 ! factor XIII deficiency intersection_of: has_characteristic MONDO:0021141 ! acquired property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238120 property_value: exactMatch NCIT:C131629 property_value: exactMatch Orphanet:599513 property_value: excluded_subClassOf MONDO:0018029 {source="NCIT:C131629"} [Term] id: MONDO:0021134 name: acquired factor X deficiency def: "An bleeding disorder with a decreased antigen and/or activity of factor X (FX) that is acquired. Acquired factor X deficiency is a rare disorder, commonly associated with a preceding viral illness and a circulating FX inhibitor. Although multiple treatment modalities have been described with variable success, in many cases, it is a self-limited condition." [] subset: ordo_disorder synonym: "acquired factor X deficiency" EXACT [MONDO:patterns/acquired] synonym: "aFX" EXACT ABBREVIATION [Orphanet:599501] xref: ICD9:286.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C131626 {source="MONDO:equivalentTo"} xref: Orphanet:599501 {source="MONDO:equivalentTo"} xref: SCTID:33820001 {source="MONDO:equivalentTo"} xref: UMLS:C0272328 {source="NCIT:C131626", source="MONDO:equivalentTo"} is_a: MONDO:0002247 {source="MONDO:Redundant", source="MONDO:cjm", source="NCIT:C131626"} ! factor X deficiency is_a: MONDO:0020599 ! acquired coagulation factor deficiency intersection_of: MONDO:0002247 ! factor X deficiency intersection_of: has_characteristic MONDO:0021141 ! acquired property_value: exactMatch http://identifiers.org/snomedct/33820001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272328 property_value: exactMatch NCIT:C131626 property_value: exactMatch Orphanet:599501 [Term] id: MONDO:0021135 name: rare or common is_a: EFO:0009813 ! disease characteristic property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI [Term] id: MONDO:0021136 name: rare def: "A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000. A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 persons at any given time. Here we take the European definition to be consistent with Orphanet." [https://www.rarediseaseday.org/article/what-is-a-rare-disease] synonym: "rare (European definition)" EXACT [] is_a: MONDO:0021135 ! rare or common [Term] id: MONDO:0021137 name: not rare synonym: "common" EXACT [] is_a: MONDO:0021135 ! rare or common [Term] id: MONDO:0021138 name: bone marrow cancer def: "Malignant neoplasms that either originate from the bone marrow (e.g. myeloid leukemias) or involve the bone marrow as secondary-metastatic tumors (e.g. metastatic carcinomas to the bone marrow). --2003" [NCIT:C35501] synonym: "bone marrow cancer" EXACT [MONDO:patterns/location, NCIT:C35501] synonym: "cancer of bone marrow" EXACT [MONDO:patterns/cancer] synonym: "malignant bone marrow neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C35501] synonym: "malignant bone marrow tumor" EXACT [NCIT:C35501] synonym: "malignant bone marrow tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of bone marrow" EXACT [MONDO:patterns/cancer] xref: NCIT:C35501 {source="MONDO:equivalentTo"} xref: UMLS:C2703042 {source="MONDO:equivalentTo", source="NCIT:C35501"} is_a: EFO:1000350 ! Malignant Bone Neoplasm is_a: MONDO:0000621 ! immune system cancer is_a: MONDO:0005374 {source="MONDO:Redundant", source="NCIT:C35501"} ! bone marrow neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2703042 property_value: exactMatch NCIT:C35501 [Term] id: MONDO:0021139 name: congenital or acquired is_a: EFO:0009813 ! disease characteristic [Term] id: MONDO:0021140 name: congenital def: "A characteristic of a disease in which the disease is present at birth, regardless of cause." [Wikipedia:Birth_defect] synonym: "inborn" EXACT [] is_a: MONDO:0021139 ! congenital or acquired relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0021141 name: acquired synonym: "not genetically inherited" EXACT [Orphanet:409941] xref: Orphanet:409941 {source="MONDO:equivalentTo"} is_a: MONDO:0021139 ! congenital or acquired property_value: exactMatch Orphanet:409941 [Term] id: MONDO:0021142 name: acquired rippling muscle disease def: "The acquired form of RMD. Although RMD most often is reported with autosomal dominant inheritance, some sporadic cases are found, and an association with other diseases such as myasthenia gravis has also been reported." [doi:10.1002/mus.10156] synonym: "acquired rippling muscle disease" EXACT [MONDO:patterns/acquired] synonym: "sporadic rippling muscle disease" EXACT [MONDO:cjm] is_a: MONDO:0011634 {source="MONDO:Redundant", source="MONDO:cjm"} ! rippling muscle disease is_a: MONDO:0016105 ! acquired skeletal muscle disease intersection_of: MONDO:0011634 ! rippling muscle disease intersection_of: has_characteristic MONDO:0021141 ! acquired [Term] id: MONDO:0021143 name: melanocytic neoplasm synonym: "melanocytic neoplasm" EXACT [NCIT:C7058] synonym: "melanomas and nevi" RELATED [MESH:D018326] xref: MESH:D018326 {source="MONDO:equivalentTo"} xref: NCIT:C7058 {source="MONDO:equivalentTo"} xref: SCTID:399956005 {source="MONDO:equivalentTo"} xref: UMLS:C1302746 {source="NCIT:C7058", source="MONDO:equivalentTo"} is_a: EFO:0000616 {source="MESH:D018326/inferred", source="MONDO:Redundant", source="NCIT:C7058/inferred"} ! neoplasm is_a: MONDO:0021635 {source="MONDO:cjm"} ! neurocristopathy property_value: exactMatch http://identifiers.org/mesh/D018326 property_value: exactMatch http://identifiers.org/snomedct/399956005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1302746 property_value: exactMatch NCIT:C7058 [Term] id: MONDO:0021144 name: ovarian clear cell tumor def: "A benign, borderline, or malignant epithelial tumor of the ovary that is characterized by a predominance of clear and hobnail cells." [NCIT:C40076] synonym: "clear cell ovarian cancer" RELATED [ONCOTREE:CCOV] synonym: "ovarian clear cell neoplasm" EXACT [NCIT:C40076] synonym: "ovarian clear cell tumor" EXACT [NCIT:C40076] xref: NCIT:C40076 {source="MONDO:equivalentTo"} xref: ONCOTREE:CCOV {source="MONDO:equivalentTo"} xref: UMLS:C0346164 {source="MONDO:equivalentTo", source="NCIT:C40076"} is_a: MONDO:0002229 {source="NCIT:C40076", source="ONCOTREE:CCOV"} ! ovarian epithelial tumor property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346164 property_value: exactMatch NCIT:C40076 [Term] id: MONDO:0021145 name: obsolete disorder of genitourinary system def: "OBSOLETE. A disease that involves the genitourinary system." [MONDO:patterns/location] comment: Reason: out of scope - grouping term. Terms to consider: 'reproductive system disorder' (MONDO:0005039), 'urinary system disorder' (MONDO:0002118). synonym: "disease of genitourinary system" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of genitourinary system" EXACT [] synonym: "disorder of genitourinary system" EXACT [MONDO:patterns/location_top] synonym: "disorder of the genitourinary system" EXACT [] synonym: "genitourinary system disease" EXACT [MONDO:patterns/location] synonym: "genitourinary system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "syndrome of the genitourinary system" RELATED [] synonym: "urogenital disease" RELATED [] synonym: "urogenital disorder" RELATED [] xref: ICD10CM:N00-N99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: SCTID:42030000 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0080276 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://identifiers.org/snomedct/42030000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0080276 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/N00-N99 property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingMorpho"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4113 xsd:anyURI is_obsolete: true consider: MONDO:0002118 consider: MONDO:0005039 [Term] id: MONDO:0021147 name: disorder of development or morphogenesis def: "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development." [MONDO:cjm] subset: harrisons_view subset: rare_grouping xref: ICD10CM:Q00-Q99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} is_a: EFO:0000408 ! disease property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q00-Q99 [Term] id: MONDO:0021148 name: female reproductive system neoplasm def: "A benign, precancerous, or malignant neoplasm that affects the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, ovarian carcinoma, cervical carcinoma, and endometrial carcinoma." [NCIT:C3053] synonym: "female reproductive organ neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "female reproductive organ tumor" EXACT [MONDO:patterns/neoplasm] synonym: "female reproductive organ tumour" EXACT OMO:0003005 [] synonym: "female reproductive system neoplasm" EXACT [NCIT:C3053] synonym: "female reproductive system neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "female reproductive system tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3053] synonym: "female reproductive system tumour" EXACT OMO:0003005 [] synonym: "gynecologic neoplasm" EXACT [NCIT:C3053] synonym: "gynecologic tumor" EXACT [NCIT:C3053] synonym: "gynecologic tumour" EXACT OMO:0003005 [] synonym: "neoplasm of female reproductive organ" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of female reproductive system" EXACT [MONDO:patterns/neoplasm, NCIT:C3053] synonym: "neoplasm of the female reproductive system" EXACT [NCIT:C3053] synonym: "tumor of female reproductive system" EXACT [MONDO:patterns/neoplasm, NCIT:C3053] synonym: "tumor of the female reproductive system" EXACT [NCIT:C3053] synonym: "tumour of female reproductive system" EXACT OMO:0003005 [] synonym: "tumour of the female reproductive system" EXACT OMO:0003005 [] xref: EFO:1001331 {source="MONDO:equivalentTo"} xref: MESH:D005833 {source="MONDO:equivalentTo"} xref: NCIT:C3053 {source="MONDO:equivalentTo"} xref: UMLS:C0017416 {source="NCIT:C3053", source="MONDO:equivalentTo"} is_a: EFO:0009549 {source="MONDO:Redundant", source="NCIT:C3053"} ! female reproductive system disease is_a: EFO:1000051 {source="MONDO:Redundant", source="NCIT:C3053"} ! reproductive system neoplasm property_value: exactMatch http://identifiers.org/mesh/D005833 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017416 property_value: exactMatch NCIT:C3053 [Term] id: MONDO:0021149 name: hereditary vs non-hereditary etiology is_a: EFO:0009813 ! disease characteristic [Term] id: MONDO:0021152 name: inherited def: "A characteristic of a disease in which the cause of the disease is a genetic problem inherited from either or both parents." [MONDO:cjm] synonym: "constitutitional genetic" RELATED [] synonym: "familial" RELATED [] synonym: "genetic" RELATED [] synonym: "hereditary" RELATED [] synonym: "inherited genetic" RELATED [] xref: EFO:0004420 {source="MONDO:equivalentTo"} is_a: MONDO:0021149 ! hereditary vs non-hereditary etiology [Term] id: MONDO:0021154 name: dermis disorder def: "A disease that involves the dermis." [MONDO:patterns/location] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79381"} synonym: "dermis disease" EXACT [MONDO:patterns/location] synonym: "dermis disease or disorder" EXACT [MONDO:patterns/location] synonym: "disease of dermis" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of dermis" EXACT [] synonym: "disorder of dermis" EXACT [MONDO:patterns/location_top] synonym: "other dermis disorder" EXACT [MONDO:0019295] xref: Orphanet:79381 {source="MONDO:equivalentTo"} xref: UMLS:CN227618 {source="MONDO:equivalentTo"} is_a: EFO:0000701 {source="https://orcid.org/0000-0002-4071-8397"} ! skin disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227618 property_value: exactMatch Orphanet:79381 property_value: excluded_subClassOf MONDO:0019291 {source="Orphanet:79381"} [Term] id: MONDO:0021155 name: X-linked cone-rod dystrophy def: "X-linked form of cone-rod dystrophy." [MONDO:patterns/x_linked] synonym: "cone-rod dystrophy, X-linked" EXACT [MONDO:patterns/x_linked] is_a: MONDO:0000425 ! X-linked disease is_a: MONDO:0015993 ! cone-rod dystrophy [Term] id: MONDO:0021164 name: posthitis def: "An inflammatory disease involving a pathogenic inflammatory response in the prepuce of penis." [MONDO:patterns/inflammatory_disease_by_site] synonym: "inflammation of prepuce of penis" EXACT [] synonym: "prepuce of penis inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: SCTID:44318002 {source="MONDO:equivalentTo"} xref: UMLS:C0235640 {source="MONDO:equivalentTo"} is_a: EFO:0009903 {source="MONDO:Redundant"} ! inflammatory disease is_a: MONDO:0002036 ! penile disorder property_value: exactMatch http://identifiers.org/snomedct/44318002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0235640 [Term] id: MONDO:0021165 name: Paget disease def: "A malignant neoplasm composed of large cells with large nuclei, prominent nucleoli, and abundant pale cytoplasm (Paget cells). Paget cell neoplasms include Paget disease of the nipple and extramammary Paget disease which may affect the vulva, penis, anus, skin and scrotum." [NCIT:C7073] synonym: "Paget cell neoplasm" BROAD [NCIT:C7073] synonym: "Paget disease" EXACT [NCIT:C7073] synonym: "Paget's cell neoplasm" EXACT [NCIT:C7073] synonym: "Paget's disease" EXACT [NCIT:C7073] xref: NCIT:C7073 {source="MONDO:equivalentTo"} is_a: EFO:0000228 {source="NCIT:C7073"} ! adenocarcinoma property_value: exactMatch NCIT:C7073 [Term] id: MONDO:0021169 name: epithelioid hemangioma def: "A hemangioma characterized by the presence of epithelioid endothelial cells." [NCIT:C4298] synonym: "epithelioid haemangioma" EXACT [DOID:474] synonym: "epithelioid hemangioma" EXACT [DOID:474, NCIT:C4298] synonym: "histiocytoid hemangioma" EXACT [MONDO:0003119, NCIT:C4298] xref: DOID:474 {source="MONDO:equivalentTo"} xref: ICDO:9125/0 {source="NCIT:C4298"} xref: NCIT:C4298 {source="MONDO:equivalentTo", source="DOID:474"} xref: UMLS:C0205788 {source="MONDO:equivalentTo", source="DOID:474"} is_a: EFO:1000635 {source="DOID:474", source="NCIT:C4298"} ! hemangioma property_value: exactMatch DOID:474 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205788 property_value: exactMatch NCIT:C4298 [Term] id: MONDO:0021179 name: proteostasis deficiencies def: "Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins." [MESH:D057165] synonym: "deficiencies, Proteostasis" EXACT [MESH:D057165] synonym: "deficiency, Proteostasis" EXACT [MESH:D057165] synonym: "disease, Protein folding" NARROW [MESH:D057165] synonym: "disease, Protein Misfolding" NARROW [MESH:D057165] synonym: "diseases, Protein folding" NARROW [MESH:D057165] synonym: "diseases, Protein Misfolding" NARROW [MESH:D057165] synonym: "disorder, Protein folding" NARROW [MESH:D057165] synonym: "disorder, Protein Misfolding" NARROW [MESH:D057165] synonym: "disorders, Protein folding" NARROW [MESH:D057165] synonym: "disorders, Protein Misfolding" NARROW [MESH:D057165] synonym: "dysfunction, Proteostasis" EXACT [MESH:D057165] synonym: "dysfunctions, Proteostasis" EXACT [MESH:D057165] synonym: "folding disease, Protein" NARROW [MESH:D057165] synonym: "folding diseases, Protein" NARROW [MESH:D057165] synonym: "folding disorder, Protein" NARROW [MESH:D057165] synonym: "folding disorders, Protein" NARROW [MESH:D057165] synonym: "Misfolding disease, Protein" NARROW [MESH:D057165] synonym: "Misfolding diseases, Protein" NARROW [MESH:D057165] synonym: "Misfolding disorder, Protein" NARROW [MESH:D057165] synonym: "Misfolding disorders, Protein" NARROW [MESH:D057165] synonym: "Protein folding disease" NARROW [MESH:D057165] synonym: "Protein folding diseases" NARROW [MESH:D057165] synonym: "Protein folding disorder" NARROW [MESH:D057165] synonym: "Protein folding disorders" NARROW [MESH:D057165] synonym: "Protein Misfolding disease" NARROW [MESH:D057165] synonym: "Protein Misfolding diseases" NARROW [MESH:D057165] synonym: "Protein Misfolding disorder" NARROW [MESH:D057165] synonym: "Protein Misfolding disorders" NARROW [MESH:D057165] synonym: "proteinopathy" RELATED [MONDO:cjm, Wikipedia:Proteopathy] synonym: "proteopathic disease" RELATED [MONDO:cjm, Wikipedia:Proteopathy] synonym: "proteopathy" RELATED [MONDO:cjm, Wikipedia:Proteopathy] synonym: "Proteostasis deficiency" EXACT [MESH:D057165] synonym: "Proteostasis dysfunction" EXACT [MESH:D057165] synonym: "Proteostasis dysfunctions" EXACT [MESH:D057165] xref: MESH:D057165 {source="MONDO:equivalentTo"} xref: UMLS:C2718000 {source="MONDO:relatedTo"} xref: UMLS:C2718001 {source="MONDO:equivalentTo"} is_a: EFO:0000589 {source="MESH:D057165"} ! metabolic disease property_value: exactMatch http://identifiers.org/mesh/D057165 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2718001 property_value: relatedMatch http://linkedlifedata.com/resource/umls/id/C2718000 [Term] id: MONDO:0021180 name: acquired xanthinuria def: "Acquired xanthinuria is generally iatrogenic. Allopurinol treatment, administered to block XOR and prevent uric acid overproduction, leads to the accumulation of xanthine. Rarely, in the setting of aggressive chemotherapy with rapid tumor lysis or in patients with HPRT deficiency on allopurinol therapy, complications of renal failure can develop from xanthine crystal nephropathy." [https://www.sciencedirect.com/topics/medicine-and-dentistry/xanthinuria] synonym: "acquired xanthinuria" EXACT [MONDO:patterns/acquired] is_a: EFO:1000639 ! acquired metabolic disease is_a: MONDO:0000721 ! xanthinuria intersection_of: MONDO:0000721 ! xanthinuria intersection_of: has_characteristic MONDO:0021141 ! acquired [Term] id: MONDO:0021181 name: inherited blood coagulation disorder def: "Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation." [MESH:D025861] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:183654"} synonym: "coagulation disorder, hereditary" EXACT [MESH:D025861] synonym: "coagulation disorder, inherited" EXACT [MESH:D025861] synonym: "coagulation disorders, hereditary" EXACT [MESH:D025861] synonym: "coagulation disorders, inherited" EXACT [MESH:D025861] synonym: "hereditary blood coagulation disease" EXACT [MONDO:patterns/hereditary] synonym: "hereditary blood coagulation disorders" EXACT [MESH:D025861] synonym: "hereditary coagulation disorder" EXACT [MESH:D025861] synonym: "hereditary coagulation disorders" EXACT [MESH:D025861] synonym: "inherited blood coagulation disease" RELATED [DOID:2214] synonym: "inherited blood coagulation disorders" EXACT [MESH:D025861] synonym: "inherited coagulation disorder" EXACT [MESH:D025861] synonym: "inherited coagulation disorders" EXACT [MESH:D025861] synonym: "rare genetic coagulation disorder" EXACT [Orphanet:98429] xref: DOID:2214 {source="MONDO:equivalentObsolete"} xref: MESH:D025861 {source="MONDO:equivalentTo", source="DOID:2214"} xref: Orphanet:183654 {source="MONDO:equivalentTo"} xref: UMLS:C0852077 {source="MONDO:equivalentTo", source="DOID:2214"} xref: UMLS:CN226819 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="MESH:D025861", source="MONDO:Entailed", source="MONDO:Redundant"} ! genetic disorder is_a: EFO:0009314 {source="DOID:2214", source="MESH:D025861", source="MONDO:Redundant", source="MONDO:cjm", source="MONDO:indirect"} ! blood coagulation disease intersection_of: EFO:0009314 ! blood coagulation disease intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/mesh/D025861 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0852077 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226819 property_value: exactMatch Orphanet:183654 [Term] id: MONDO:0021187 name: hyperlipidemia synonym: "hyperlipemia" RELATED [MESH:D006949] synonym: "hyperlipemias" RELATED [MESH:D006949] synonym: "hyperlipidemia" EXACT [MESH:D006949] synonym: "hyperlipidemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "lipemia" RELATED [MESH:D006949] synonym: "lipemias" RELATED [MESH:D006949] synonym: "lipidemia" RELATED [MESH:D006949] synonym: "lipidemias" RELATED [MESH:D006949] xref: EFO:0003774 {source="MONDO:equivalentTo"} xref: HP:0003077 {source="MONDO:otherHierarchy"} xref: ICD10CM:E78.5 {source="MONDO:equivalentTo"} xref: ICD9:272.4 xref: MESH:D006949 {source="MONDO:equivalentTo"} xref: SCTID:55822004 {source="MONDO:equivalentTo"} xref: UMLS:C0020473 {source="MONDO:equivalentTo"} xref: UMLS:CN236649 {source="MONDO:equivalentTo"} is_a: EFO:0000589 {source="ICD10CM:E78.5/inferred", source="MESH:D006949/inferred", source="MONDO:Redundant", source="NCIT:C34709"} ! metabolic disease property_value: exactMatch http://identifiers.org/mesh/D006949 property_value: exactMatch http://identifiers.org/mesh/D006949 property_value: exactMatch http://identifiers.org/snomedct/55822004 property_value: exactMatch http://identifiers.org/snomedct/55822004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020473 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020473 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN236649 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN236649 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E78.5 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E78.5 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000589 "hyperlipidemia (disease)" xsd:string [Term] id: MONDO:0021189 name: intestinal motility disease def: "A disease that has its basis in the disruption of intestinal motility." [MONDO:patterns/basis_in_disruption_of_process] synonym: "disorder of intestinal motility" EXACT [MONDO:patterns/basis_in_disruption_of_process] is_a: EFO:0009431 ! intestinal disease [Term] id: MONDO:0021192 name: odontogenic neoplasm def: "A benign or malignant neoplasm arising from tooth-forming tissues. It occurs in the maxillofacial skeleton or the gingiva. Benign tumors are slow growing and are not associated with specific clinical symptoms. Pain is absent or slight. Malignant tumors are usually associated with rapid swelling and pain." [NCIT:C3286] synonym: "calcareous tooth neoplasm" EXACT [] synonym: "calcareous tooth neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "calcareous tooth tumor" EXACT [MONDO:patterns/neoplasm] synonym: "calcareous tooth tumour" EXACT OMO:0003005 [] synonym: "neoplasm of calcareous tooth" EXACT [MONDO:patterns/neoplasm] synonym: "odontogenic neoplasm" EXACT [NCIT:C3286] synonym: "odontogenic tumor" EXACT [NCIT:C3286] synonym: "odontogenic tumour" EXACT OMO:0003005 [] synonym: "tumor of calcareous tooth" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of calcareous tooth" EXACT OMO:0003005 [] xref: ICDO:9270/1 {source="NCIT:C3286"} xref: MESH:D009808 {source="MONDO:equivalentTo"} xref: NCIT:C3286 {source="MONDO:equivalentTo"} xref: UMLS:C0028880 {source="NCIT:C3286", source="MONDO:equivalentTo"} is_a: EFO:0005950 {source="MONDO:Redundant", source="NCIT:C3286/inferred"} ! head and neck neoplasia is_a: EFO:0008549 ! digestive system neoplasm is_a: EFO:1001216 {source="MONDO:Redundant", source="NCIT:C3286"} ! tooth disease property_value: exactMatch http://identifiers.org/mesh/D009808 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0028880 property_value: exactMatch NCIT:C3286 [Term] id: MONDO:0021193 name: neuroepithelial neoplasm def: "A neoplasm of the nervous system that arises from the neuroepithelial tissues. Representative examples include astrocytic tumors, oligodendroglial tumors, ependymal tumors, and primitive neuroectodermal tumors." [NCIT:C3787] comment: Editor note consider adding grouping class for Neuroepithelial, Perineurial, and Schwann Cell Neoplasm synonym: "neoplasm of neuroepithelial tissue" EXACT [NCIT:C3787] synonym: "neoplasm of neuroepithelium" EXACT [NCIT:C3787] synonym: "neoplasm of the neuroepithelium" EXACT [NCIT:C3787] synonym: "neuroepithelial neoplasm" EXACT [NCIT:C3787] synonym: "neuroepithelial neoplasms" EXACT [NCIT:C3787] synonym: "neuroepithelial tissue neoplasm" EXACT [NCIT:C3787] synonym: "neuroepithelial tissue tumor" EXACT [NCIT:C3787] synonym: "neuroepithelial tissue tumour" EXACT OMO:0003005 [] synonym: "neuroepithelial tumor" EXACT [NCIT:C3787] synonym: "neuroepithelial tumors" EXACT [NCIT:C3787] synonym: "neuroepithelial tumour" EXACT OMO:0003005 [] synonym: "neuroepithelial tumours" EXACT OMO:0003005 [] synonym: "primary neuroepithelial tumor" RELATED [ONCOTREE:PRNET] synonym: "primary neuroepithelial tumour" RELATED OMO:0003005 [] synonym: "tumor of neuroepithelial tissue" EXACT [NCIT:C3787] synonym: "tumor of neuroepithelium" EXACT [NCIT:C3787] synonym: "tumor of the neuroepithelium" EXACT [NCIT:C3787] synonym: "tumour of neuroepithelial tissue" EXACT OMO:0003005 [] synonym: "tumour of neuroepithelium" EXACT OMO:0003005 [] synonym: "tumour of the neuroepithelium" EXACT OMO:0003005 [] xref: MESH:D018302 {source="MONDO:equivalentTo"} xref: NCIT:C3787 {source="MONDO:equivalentTo"} xref: ONCOTREE:PRNET {source="MONDO:equivalentTo"} is_a: MONDO:0021248 {source="NCIT:C35562", source="NCIT:C3787/inferred"} ! nervous system neoplasm property_value: exactMatch http://identifiers.org/mesh/D018302 property_value: exactMatch NCIT:C3787 [Term] id: MONDO:0021201 name: skin infection def: "An inflammatory process affecting the skin, caused by bacteria, viruses, parasites, or fungi. Examples of bacterial infection include carbuncles, furuncles, impetigo, erysipelas, and abscesses. Examples of viral infection include shingles, warts, molluscum contagiosum, and pityriasis rosea. Examples of parasitic infection include scabies and lice. Examples of fungal infection include athlete's foot, yeast infection, and ringworm." [NCIT:C35025] synonym: "skin infection" EXACT [NCIT:C35025] xref: NCIT:C35025 {source="MONDO:equivalentTo"} xref: SCTID:19824006 {source="MONDO:equivalentTo"} xref: UMLS:C0037278 {source="MONDO:equivalentTo", source="NCIT:C35025"} is_a: MONDO:0002406 ! dermatitis is_a: MONDO:0024294 ! skin disorder caused by infection property_value: exactMatch http://identifiers.org/snomedct/19824006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037278 property_value: exactMatch NCIT:C35025 [Term] id: MONDO:0021204 name: chronic otitis media def: "Chronic form of otitis media (disease)." [MONDO:patterns/chronic] synonym: "chronic otitis media (disease)" EXACT [] synonym: "otitis media (disease), chronic" EXACT [MONDO:patterns/chronic] xref: ICD9:381.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:21186006 {source="MONDO:equivalentTo"} xref: UMLS:C0271441 {source="MONDO:equivalentTo"} is_a: EFO:0004992 {source="MONDO:Redundant"} ! Otitis media property_value: exactMatch http://identifiers.org/snomedct/21186006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271441 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0021205 name: disorder of ear def: "A disease that involves the ear." [MONDO:patterns/location] synonym: "disease of ear" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of ear" EXACT [] synonym: "disorder of ear" EXACT [MONDO:patterns/location_top] synonym: "Ear disease" EXACT [NCIT:C26757] synonym: "ear disease" EXACT [MONDO:patterns/location] synonym: "ear disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "Ear disorder" EXACT [NCIT:C26757] xref: ICD9:388.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:388.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C26757 {source="MONDO:equivalentTo"} xref: SCTID:25906001 {source="MONDO:equivalentTo"} xref: UMLS:C0013447 {source="MONDO:equivalentTo", source="NCIT:C26757"} is_a: MONDO:0024623 {source="MONDO:cjm", source="NCIT:C26757"} ! otorhinolaryngologic disease property_value: exactMatch http://identifiers.org/snomedct/25906001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013447 property_value: exactMatch NCIT:C26757 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0021206 name: chronic non-suppurative otitis media def: "Chronic form of non-suppurative otitis media." [MONDO:patterns/chronic] synonym: "non-suppurative otitis media, chronic" EXACT [MONDO:patterns/chronic] xref: ICD9:381.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:232254004 {source="MONDO:equivalentTo"} xref: UMLS:C0395869 {source="MONDO:equivalentTo"} is_a: MONDO:0001212 {source="MONDO:Redundant"} ! non-suppurative otitis media is_a: MONDO:0021204 ! chronic otitis media property_value: exactMatch http://identifiers.org/snomedct/232254004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0395869 [Term] id: MONDO:0021208 name: endocrine alopecia xref: ICD9:704.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:54539003 {source="MONDO:equivalentTo"} xref: UMLS:C0002176 {source="MONDO:equivalentTo"} is_a: MONDO:0004907 {source="MONDO:Redundant"} ! alopecia property_value: exactMatch http://identifiers.org/snomedct/54539003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002176 [Term] id: MONDO:0021218 name: placenta neoplasm def: "A neoplasm (disease) that involves the placenta." [MONDO:patterns/location] synonym: "neoplasm of placenta" EXACT [MONDO:patterns/neoplasm, NCIT:C4858] synonym: "neoplasm of the placenta" EXACT [NCIT:C4858] synonym: "placenta neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "placenta neoplasms" EXACT [NCIT:C4858] synonym: "placenta tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4858] synonym: "placenta tumors" EXACT [NCIT:C4858] synonym: "placenta tumour" EXACT OMO:0003005 [] synonym: "placenta tumours" EXACT OMO:0003005 [] synonym: "placental neoplasm" EXACT [NCIT:C4858] synonym: "placental tumor" EXACT [NCIT:C4858] synonym: "placental tumors" EXACT [NCIT:C4858] synonym: "placental tumour" EXACT OMO:0003005 [] synonym: "placental tumours" EXACT OMO:0003005 [] synonym: "trophoblastic tumor placental site" RELATED [GARD:0007403] synonym: "trophoblastic tumour placental site" RELATED OMO:0003005 [] synonym: "tumor of placenta" EXACT [MONDO:patterns/neoplasm, NCIT:C4858] synonym: "tumor of the placenta" EXACT [NCIT:C4858] synonym: "tumour of placenta" EXACT OMO:0003005 [] synonym: "tumour of the placenta" EXACT OMO:0003005 [] xref: NCIT:C4858 {source="MONDO:equivalentTo"} is_a: EFO:0003859 ! uterine neoplasm is_a: EFO:0007441 {source="MONDO:Redundant", source="NCIT:C4858"} ! placenta disease property_value: exactMatch NCIT:C4858 [Term] id: MONDO:0021222 name: lacrimal gland neoplasm def: "A neoplasm (disease) that involves the lacrimal gland." [MONDO:patterns/location] synonym: "lacrimal gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "lacrimal gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4360] synonym: "lacrimal gland tumour" EXACT OMO:0003005 [] synonym: "neoplasm of lacrimal gland" EXACT [MONDO:patterns/neoplasm, NCIT:C4360] synonym: "neoplasm of the lacrimal gland" EXACT [NCIT:C4360] synonym: "tumor of lacrimal gland" EXACT [MONDO:patterns/neoplasm, NCIT:C4360] synonym: "tumor of the lacrimal gland" EXACT [NCIT:C4360] synonym: "tumour of lacrimal gland" EXACT OMO:0003005 [] synonym: "tumour of the lacrimal gland" EXACT OMO:0003005 [] xref: NCIT:C4360 {source="MONDO:equivalentTo"} is_a: EFO:0003824 {source="MONDO:Redundant", source="NCIT:C4360/inferred"} ! eye neoplasm is_a: MONDO:0024625 ! disorder of lacrimal gland property_value: exactMatch NCIT:C4360 [Term] id: MONDO:0021224 name: iris neoplasm def: "A neoplasm (disease) that involves the iris." [MONDO:patterns/location] synonym: "iris neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "iris tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3142] synonym: "iris tumour" EXACT OMO:0003005 [] synonym: "neoplasm of iris" EXACT [MONDO:patterns/neoplasm, NCIT:C3142] synonym: "neoplasm of the iris" EXACT [NCIT:C3142] synonym: "tumor of iris" EXACT [MONDO:patterns/neoplasm, NCIT:C3142] synonym: "tumor of the iris" EXACT [NCIT:C3142] synonym: "tumour of iris" EXACT OMO:0003005 [] synonym: "tumour of the iris" EXACT OMO:0003005 [] xref: MESH:D015811 {source="MONDO:equivalentTo"} xref: NCIT:C3142 {source="MONDO:equivalentTo"} xref: UMLS:C0022079 {source="NCIT:C3142", source="MONDO:equivalentTo"} is_a: MONDO:0002289 ! iris disorder is_a: MONDO:0021225 {source="MONDO:Redundant", source="NCIT:C3142"} ! uvea neoplasm property_value: exactMatch http://identifiers.org/mesh/D015811 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022079 property_value: exactMatch NCIT:C3142 [Term] id: MONDO:0021225 name: uvea neoplasm def: "A neoplasm (disease) that involves the uvea." [MONDO:patterns/location] synonym: "neoplasm of the uvea" EXACT [NCIT:C3436] synonym: "neoplasm of uvea" EXACT [MONDO:patterns/neoplasm, NCIT:C3436] synonym: "tumor of the uvea" EXACT [NCIT:C3436] synonym: "tumor of uvea" EXACT [MONDO:patterns/neoplasm, NCIT:C3436] synonym: "tumour of the uvea" EXACT OMO:0003005 [] synonym: "tumour of uvea" EXACT OMO:0003005 [] synonym: "uvea neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "uvea tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3436] synonym: "uvea tumour" EXACT OMO:0003005 [] synonym: "uveal neoplasm" EXACT [NCIT:C3436] synonym: "uveal tumor" EXACT [NCIT:C3436] synonym: "uveal tumour" EXACT OMO:0003005 [] xref: NCIT:C3436 {source="MONDO:equivalentTo"} xref: UMLS:C0042162 {source="MONDO:equivalentTo", source="NCIT:C3436"} is_a: EFO:0003824 {source="MONDO:Redundant", source="NCIT:C3436"} ! eye neoplasm is_a: MONDO:0002661 {source="MONDO:Redundant", source="NCIT:C3436"} ! uveal disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042162 property_value: exactMatch NCIT:C3436 [Term] id: MONDO:0021229 name: ciliary body neoplasm def: "A neoplasm (disease) that involves the ciliary body." [MONDO:patterns/location] synonym: "ciliary body neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "ciliary body tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4364] synonym: "ciliary body tumour" EXACT OMO:0003005 [] synonym: "neoplasm of ciliary body" EXACT [MONDO:patterns/neoplasm, NCIT:C4364] synonym: "neoplasm of the ciliary body" EXACT [NCIT:C4364] synonym: "tumor of ciliary body" EXACT [MONDO:patterns/neoplasm, NCIT:C4364] synonym: "tumor of the ciliary body" EXACT [NCIT:C4364] synonym: "tumour of ciliary body" EXACT OMO:0003005 [] synonym: "tumour of the ciliary body" EXACT OMO:0003005 [] xref: NCIT:C4364 {source="MONDO:equivalentTo"} xref: UMLS:C0339349 {source="NCIT:C4364", source="MONDO:equivalentTo"} is_a: MONDO:0002970 {source="MONDO:Redundant", source="NCIT:C4364"} ! ciliary body disorder is_a: MONDO:0021224 ! iris neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339349 property_value: exactMatch NCIT:C4364 [Term] id: MONDO:0021230 name: uterine cervix neoplasm def: "A neoplasm (disease) that involves the uterine cervix." [MONDO:patterns/location] synonym: "Cervical neoplasm" EXACT [NCIT:C2940] synonym: "cervical tumor" EXACT [NCIT:C2940] synonym: "cervical tumour" EXACT OMO:0003005 [] synonym: "cervix" RELATED [ONCOTREE:CERVIX] synonym: "cervix neoplasm" EXACT [NCIT:C2940] synonym: "cervix tumor" EXACT [NCIT:C2940] synonym: "cervix tumour" EXACT OMO:0003005 [] synonym: "cervix uteri neoplasm" EXACT [NCIT:C2940] synonym: "cervix uteri tumor" EXACT [NCIT:C2940] synonym: "cervix uteri tumour" EXACT OMO:0003005 [] synonym: "neoplasm of cervix" EXACT [NCIT:C2940] synonym: "neoplasm of cervix uteri" EXACT [NCIT:C2940] synonym: "neoplasm of the cervix" EXACT [NCIT:C2940] synonym: "neoplasm of the cervix uteri" EXACT [NCIT:C2940] synonym: "neoplasm of the uterine cervix" EXACT [NCIT:C2940] synonym: "neoplasm of uterine cervix" EXACT [MONDO:patterns/neoplasm, NCIT:C2940] synonym: "tumor of cervix" EXACT [NCIT:C2940] synonym: "tumor of cervix uteri" EXACT [NCIT:C2940] synonym: "tumor of the cervix" EXACT [NCIT:C2940] synonym: "tumor of the cervix uteri" EXACT [NCIT:C2940] synonym: "tumor of the uterine cervix" EXACT [NCIT:C2940] synonym: "tumor of uterine cervix" EXACT [MONDO:patterns/neoplasm, NCIT:C2940] synonym: "tumour of cervix" EXACT OMO:0003005 [] synonym: "tumour of cervix uteri" EXACT OMO:0003005 [] synonym: "tumour of the cervix" EXACT OMO:0003005 [] synonym: "tumour of the cervix uteri" EXACT OMO:0003005 [] synonym: "tumour of the uterine cervix" EXACT OMO:0003005 [] synonym: "tumour of uterine cervix" EXACT OMO:0003005 [] synonym: "uterine cervix neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "uterine cervix tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2940] synonym: "uterine cervix tumour" EXACT OMO:0003005 [] xref: NCIT:C2940 {source="MONDO:equivalentTo"} xref: ONCOTREE:CERVIX {source="MONDO:equivalentTo"} is_a: EFO:0003859 {source="MONDO:Redundant", source="NCIT:C2940"} ! uterine neoplasm is_a: MONDO:0002256 ! cervix disorder property_value: exactMatch NCIT:C2940 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0021232 name: pineal body neoplasm def: "A neoplasm (disease) that involves the pineal body." [MONDO:patterns/location] synonym: "neoplasm of pineal area" EXACT [NCIT:C3328] synonym: "neoplasm of pineal body" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of pineal region" EXACT [NCIT:C3328] synonym: "neoplasm of the pineal area" EXACT [NCIT:C3328] synonym: "neoplasm of the pineal region" EXACT [NCIT:C3328] synonym: "pineal area neoplasm" EXACT [NCIT:C3328] synonym: "pineal area tumor" EXACT [NCIT:C3328] synonym: "pineal area tumour" EXACT OMO:0003005 [] synonym: "pineal body neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "pineal body tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3328] synonym: "pineal body tumour" EXACT OMO:0003005 [] synonym: "pineal neoplasm" EXACT [NCIT:C3328] synonym: "pineal region neoplasm" EXACT [NCIT:C3328] synonym: "pineal region tumor" EXACT [NCIT:C3328] synonym: "pineal region tumour" EXACT OMO:0003005 [] synonym: "pineal tumor" EXACT [NCIT:C3328] synonym: "pineal tumour" EXACT OMO:0003005 [] synonym: "pinealoma" EXACT [NCIT:C3328] synonym: "tumor of pineal area" EXACT [NCIT:C3328] synonym: "tumor of pineal body" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of pineal region" EXACT [NCIT:C3328] synonym: "tumor of the pineal area" EXACT [NCIT:C3328] synonym: "tumor of the pineal region" EXACT [NCIT:C3328] synonym: "tumour of pineal area" EXACT OMO:0003005 [] synonym: "tumour of pineal body" EXACT OMO:0003005 [] synonym: "tumour of pineal region" EXACT OMO:0003005 [] synonym: "tumour of the pineal area" EXACT OMO:0003005 [] synonym: "tumour of the pineal region" EXACT OMO:0003005 [] xref: NCIT:C3328 {source="MONDO:equivalentTo"} xref: ONCOTREE:PINT {source="MONDO:equivalentTo"} is_a: EFO:0003769 ! endocrine neoplasm is_a: EFO:0003833 {source="MONDO:Redundant", source="NCIT:C3328/inferred"} ! brain neoplasm is_a: MONDO:0003081 ! thalamic disorder is_a: MONDO:0100070 ! neuroendocrine disorder property_value: exactMatch NCIT:C3328 [Term] id: MONDO:0021233 name: ear neoplasm def: "A neoplasm (disease) that involves the ear." [MONDO:patterns/location] synonym: "ear neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "Ear neoplasms" EXACT [NCIT:C3000] synonym: "Ear tumor" EXACT [NCIT:C3000] synonym: "ear tumor" EXACT [MONDO:patterns/neoplasm] synonym: "Ear tumour" EXACT OMO:0003005 [] synonym: "ear tumour" EXACT OMO:0003005 [] synonym: "neoplasm of Ear" EXACT [NCIT:C3000] synonym: "neoplasm of ear" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the Ear" EXACT [NCIT:C3000] synonym: "tumor of Ear" EXACT [NCIT:C3000] synonym: "tumor of ear" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the Ear" EXACT [NCIT:C3000] synonym: "tumour of Ear" EXACT OMO:0003005 [] synonym: "tumour of ear" EXACT OMO:0003005 [] synonym: "tumour of the Ear" EXACT OMO:0003005 [] xref: NCIT:C3000 {source="MONDO:equivalentTo"} is_a: EFO:0005950 {source="MONDO:Redundant", source="NCIT:C3000"} ! head and neck neoplasia is_a: MONDO:0021205 {source="MONDO:Redundant", source="NCIT:C3000"} ! disorder of ear property_value: exactMatch NCIT:C3000 [Term] id: MONDO:0021237 name: adrenal medulla neoplasm def: "A neoplasm (disease) that involves the adrenal medulla." [MONDO:patterns/location] synonym: "adrenal medulla neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "adrenal medulla tumor" EXACT [MONDO:patterns/neoplasm] synonym: "adrenal medulla tumour" EXACT OMO:0003005 [] synonym: "neoplasm of adrenal medulla" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of adrenal medulla" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of adrenal medulla" EXACT OMO:0003005 [] xref: NCIT:C4856 {source="MONDO:equivalentTo"} xref: UMLS:C0596046 {source="MONDO:equivalentTo", source="NCIT:C4856"} is_a: EFO:0003850 {source="MONDO:Redundant", source="NCIT:C4856"} ! adrenal gland neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0596046 property_value: exactMatch NCIT:C4856 [Term] id: MONDO:0021238 name: cornea neoplasm def: "A neoplasm (disease) that involves the cornea." [MONDO:patterns/location] synonym: "cornea neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "cornea tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4361] synonym: "cornea tumour" EXACT OMO:0003005 [] synonym: "corneal neoplasm" EXACT [NCIT:C4361] synonym: "corneal tumor" EXACT [NCIT:C4361] synonym: "corneal tumour" EXACT OMO:0003005 [] synonym: "neoplasm of cornea" EXACT [MONDO:patterns/neoplasm, NCIT:C4361] synonym: "neoplasm of the cornea" EXACT [NCIT:C4361] synonym: "tumor of cornea" EXACT [MONDO:patterns/neoplasm, NCIT:C4361] synonym: "tumor of the cornea" EXACT [NCIT:C4361] synonym: "tumour of cornea" EXACT OMO:0003005 [] synonym: "tumour of the cornea" EXACT OMO:0003005 [] xref: NCIT:C4361 {source="MONDO:equivalentTo"} xref: UMLS:C0339304 {source="NCIT:C4361", source="MONDO:equivalentTo"} is_a: EFO:0003824 {source="MONDO:Redundant", source="NCIT:C4361"} ! eye neoplasm is_a: EFO:0009464 {source="MONDO:Redundant", source="NCIT:C4361"} ! corneal disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339304 property_value: exactMatch NCIT:C4361 [Term] id: MONDO:0021246 name: pharynx neoplasm def: "A neoplasm (disease) that involves the pharynx." [MONDO:patterns/location] synonym: "neoplasm of pharynx" EXACT [MONDO:patterns/neoplasm, NCIT:C3325] synonym: "neoplasm of the pharynx" EXACT [NCIT:C3325] synonym: "pharyngeal neoplasms" EXACT [NCIT:C3325] synonym: "pharyngeal tumor" EXACT [NCIT:C3325] synonym: "pharyngeal tumour" EXACT OMO:0003005 [] synonym: "pharynx neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "pharynx tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3325] synonym: "pharynx tumour" EXACT OMO:0003005 [] synonym: "tumor of pharynx" EXACT [MONDO:patterns/neoplasm, NCIT:C3325] synonym: "tumor of the pharynx" EXACT [NCIT:C3325] synonym: "tumour of pharynx" EXACT OMO:0003005 [] synonym: "tumour of the pharynx" EXACT OMO:0003005 [] xref: ICD10CM:C00-C14 {source="MONDO:relatedTo", source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: NCIT:C3325 {source="MONDO:equivalentTo"} is_a: EFO:0008549 ! digestive system neoplasm property_value: exactMatch NCIT:C3325 property_value: relatedMatch http://purl.bioontology.org/ontology/ICD10CM/C00-C14 [Term] id: MONDO:0021248 name: nervous system neoplasm def: "A neoplasm (disease) that involves the nervous system." [MONDO:patterns/location] synonym: "neoplasm of nervous system" EXACT [MONDO:patterns/neoplasm, NCIT:C3268] synonym: "neoplasm of the nervous system" EXACT [NCIT:C3268] synonym: "nervous system neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "nervous system neoplasms" EXACT [NCIT:C3268] synonym: "nervous system tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3268] synonym: "nervous system tumour" EXACT OMO:0003005 [] synonym: "tumor of nervous system" EXACT [MONDO:patterns/neoplasm, NCIT:C3268] synonym: "tumor of the nervous system" EXACT [NCIT:C3268] synonym: "tumour of nervous system" EXACT OMO:0003005 [] synonym: "tumour of the nervous system" EXACT OMO:0003005 [] xref: NCIT:C3268 {source="MONDO:equivalentTo"} is_a: EFO:0000616 {source="MONDO:Redundant", source="NCIT:C3268/inferred"} ! neoplasm is_a: EFO:0000618 {source="MONDO:Redundant", source="NCIT:C3268"} ! nervous system disease property_value: exactMatch NCIT:C3268 [Term] id: MONDO:0021249 name: lip neoplasm def: "A neoplasm (disease) that involves the lip." [MONDO:patterns/location] synonym: "lip neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "lip neoplasms" EXACT [NCIT:C3191] synonym: "lip tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3191] synonym: "lip tumour" EXACT OMO:0003005 [] synonym: "neoplasm of Lip" EXACT [NCIT:C3191] synonym: "neoplasm of lip" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the Lip" EXACT [NCIT:C3191] synonym: "tumor of Lip" EXACT [NCIT:C3191] synonym: "tumor of lip" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the Lip" EXACT [NCIT:C3191] synonym: "tumour of Lip" EXACT OMO:0003005 [] synonym: "tumour of lip" EXACT OMO:0003005 [] synonym: "tumour of the Lip" EXACT OMO:0003005 [] xref: ICD10CM:C00-C14 {source="MONDO:relatedTo", source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: NCIT:C3191 {source="MONDO:equivalentTo"} xref: SCTID:126770008 {source="MONDO:equivalentTo"} is_a: EFO:0005950 {source="MONDO:Redundant", source="NCIT:C3191/inferred"} ! head and neck neoplasia is_a: EFO:0008549 ! digestive system neoplasm is_a: MONDO:0004748 {source="MONDO:Redundant", source="NCIT:C3191"} ! lip disorder property_value: exactMatch http://identifiers.org/snomedct/126770008 property_value: exactMatch NCIT:C3191 property_value: relatedMatch http://purl.bioontology.org/ontology/ICD10CM/C00-C14 [Term] id: MONDO:0021250 name: tonsil neoplasm def: "A neoplasm (disease) that involves the tonsil." [MONDO:patterns/location] synonym: "neoplasm of the tonsil" EXACT [NCIT:C3417] synonym: "neoplasm of tonsil" EXACT [MONDO:patterns/neoplasm, NCIT:C3417] synonym: "tonsil neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "tonsil tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3417] synonym: "tonsil tumour" EXACT OMO:0003005 [] synonym: "tonsillar neoplasm" EXACT [NCIT:C3417] synonym: "tonsillar neoplasms" EXACT [NCIT:C3417] synonym: "tonsillar tumor" EXACT [NCIT:C3417] synonym: "tonsillar tumour" EXACT OMO:0003005 [] synonym: "tumor of the tonsil" EXACT [NCIT:C3417] synonym: "tumor of tonsil" EXACT [MONDO:patterns/neoplasm, NCIT:C3417] synonym: "tumour of the tonsil" EXACT OMO:0003005 [] synonym: "tumour of tonsil" EXACT OMO:0003005 [] xref: NCIT:C3417 {source="MONDO:equivalentTo"} xref: SCTID:127227003 {source="MONDO:equivalentTo"} is_a: EFO:0005950 ! head and neck neoplasia is_a: MONDO:0020592 ! disorder of pharynx is_a: MONDO:0021246 {source="MONDO:Redundant", source="NCIT:C3417/inferred"} ! pharynx neoplasm is_a: MONDO:0044986 ! lymphoid system disorder property_value: exactMatch http://identifiers.org/snomedct/127227003 property_value: exactMatch NCIT:C3417 [Term] id: MONDO:0021251 name: endometrium neoplasm def: "A neoplasm (disease) that involves the endometrium." [MONDO:patterns/location] synonym: "endometrial neoplasm" EXACT [NCIT:C3012] synonym: "endometrial tumor" EXACT [NCIT:C3012] synonym: "endometrial tumour" EXACT OMO:0003005 [] synonym: "endometrium neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "endometrium tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3012] synonym: "endometrium tumour" EXACT OMO:0003005 [] synonym: "neoplasm of endometrium" EXACT [MONDO:patterns/neoplasm, NCIT:C3012] synonym: "neoplasm of the endometrium" EXACT [NCIT:C3012] synonym: "tumor of endometrium" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the endometrium" EXACT [NCIT:C3012] synonym: "tumour of endometrium" EXACT OMO:0003005 [] synonym: "tumour of the endometrium" EXACT OMO:0003005 [] xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D016889 {source="MONDO:equivalentTo"} xref: NCIT:C3012 {source="MONDO:equivalentTo"} xref: SCTID:123844007 {source="MONDO:equivalentTo"} is_a: EFO:0003859 {source="MONDO:Redundant", source="NCIT:C3012/inferred"} ! uterine neoplasm is_a: MONDO:0000931 ! endometrial disorder property_value: exactMatch http://identifiers.org/mesh/D016889 property_value: exactMatch http://identifiers.org/snomedct/123844007 property_value: exactMatch NCIT:C3012 [Term] id: MONDO:0021254 name: corpus uteri neoplasm alt_id: MONDO:0021255 alt_id: MONDO:0021256 def: "A neoplasm (disease) that involves the body of uterus." [MONDO:patterns/location] synonym: "body of uterus neoplasm" EXACT [] synonym: "body of uterus neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "body of uterus tumor" EXACT [MONDO:patterns/neoplasm] synonym: "body of uterus tumour" EXACT OMO:0003005 [] synonym: "corpus uteri tumor" EXACT [NCIT:C6300] synonym: "corpus uteri tumour" EXACT OMO:0003005 [] synonym: "neoplasm of body of uterus" EXACT [MONDO:patterns/neoplasm, NCIT:C6300] synonym: "neoplasm of corpus uteri" EXACT [NCIT:C6300] synonym: "neoplasm of the body of uterus" EXACT [NCIT:C6300] synonym: "neoplasm of the corpus uteri" EXACT [NCIT:C6300] synonym: "neoplasm of the uterine body" EXACT [NCIT:C6300] synonym: "neoplasm of the uterine corpus" EXACT [NCIT:C6300] synonym: "neoplasm of uterine body" EXACT [NCIT:C6300] synonym: "neoplasm of uterine corpus" EXACT [NCIT:C6300] synonym: "tumor of body of uterus" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of corpus uteri" EXACT [NCIT:C6300] synonym: "tumor of the corpus uteri" EXACT [NCIT:C6300] synonym: "tumor of the uterine body" EXACT [NCIT:C6300] synonym: "tumor of the uterine corpus" EXACT [NCIT:C6300] synonym: "tumor of uterine body" EXACT [NCIT:C6300] synonym: "tumor of uterine corpus" EXACT [NCIT:C6300] synonym: "tumour of body of uterus" EXACT OMO:0003005 [] synonym: "tumour of corpus uteri" EXACT OMO:0003005 [] synonym: "tumour of the corpus uteri" EXACT OMO:0003005 [] synonym: "tumour of the uterine body" EXACT OMO:0003005 [] synonym: "tumour of the uterine corpus" EXACT OMO:0003005 [] synonym: "tumour of uterine body" EXACT OMO:0003005 [] synonym: "tumour of uterine corpus" EXACT OMO:0003005 [] synonym: "uterine body neoplasm" EXACT [NCIT:C6300] synonym: "uterine body tumor" EXACT [NCIT:C6300] synonym: "uterine body tumour" EXACT OMO:0003005 [] synonym: "uterine corpus neoplasm" EXACT [NCIT:C6300] synonym: "uterine corpus tumor" EXACT [NCIT:C6300] synonym: "uterine corpus tumour" EXACT OMO:0003005 [] xref: NCIT:C6300 {source="MONDO:equivalentTo"} xref: SCTID:126909004 {source="MONDO:equivalentTo"} xref: UMLS:C1263777 {source="NCIT:C6300", source="MONDO:equivalentTo"} is_a: EFO:0003859 {source="MONDO:Redundant", source="NCIT:C6300"} ! uterine neoplasm property_value: exactMatch http://identifiers.org/snomedct/126909004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1263777 property_value: exactMatch NCIT:C6300 [Term] id: MONDO:0021258 name: choroid neoplasm def: "A neoplasm (disease) that involves the optic choroid." [MONDO:patterns/location] synonym: "choroid tumor" EXACT [NCIT:C2949] synonym: "choroid tumour" EXACT OMO:0003005 [] synonym: "choroidal neoplasm" EXACT [NCIT:C2949] synonym: "choroidal tumor" EXACT [NCIT:C2949] synonym: "choroidal tumour" EXACT OMO:0003005 [] synonym: "neoplasm of choroid" EXACT [NCIT:C2949] synonym: "neoplasm of optic choroid" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the choroid" EXACT [NCIT:C2949] synonym: "optic choroid neoplasm" EXACT [] synonym: "optic choroid neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "optic choroid tumor" EXACT [MONDO:patterns/neoplasm] synonym: "optic choroid tumour" EXACT OMO:0003005 [] synonym: "tumor of choroid" EXACT [NCIT:C2949] synonym: "tumor of optic choroid" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the choroid" EXACT [NCIT:C2949] synonym: "tumour of choroid" EXACT OMO:0003005 [] synonym: "tumour of optic choroid" EXACT OMO:0003005 [] synonym: "tumour of the choroid" EXACT OMO:0003005 [] xref: NCIT:C2949 {source="MONDO:equivalentTo"} is_a: MONDO:0001898 {source="MONDO:Redundant", source="NCIT:C2949"} ! optic choroid disorder is_a: MONDO:0021225 {source="MONDO:Redundant", source="NCIT:C2949"} ! uvea neoplasm is_a: MONDO:0024296 ! vascular neoplasm property_value: exactMatch NCIT:C2949 [Term] id: MONDO:0021259 name: prostate neoplasm def: "A neoplasm (disease) that involves the prostate gland." [MONDO:patterns/location] synonym: "neoplasm of prostate" EXACT [NCIT:C3343] synonym: "neoplasm of prostate gland" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the prostate" EXACT [NCIT:C3343] synonym: "nodular prostate" RELATED [] synonym: "prostate gland neoplasm" EXACT [] synonym: "prostate gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "prostate gland tumor" EXACT [MONDO:patterns/neoplasm] synonym: "prostate gland tumour" EXACT OMO:0003005 [] synonym: "prostate nodule" RELATED [] synonym: "prostate tumor" EXACT [NCIT:C3343] synonym: "prostate tumour" EXACT OMO:0003005 [] synonym: "tumor of prostate" EXACT [NCIT:C3343] synonym: "tumor of prostate gland" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the prostate" EXACT [NCIT:C3343] synonym: "tumour of prostate" EXACT OMO:0003005 [] synonym: "tumour of prostate gland" EXACT OMO:0003005 [] synonym: "tumour of the prostate" EXACT OMO:0003005 [] xref: DOID:13206 {source="MONDO:equivalentTo"} xref: ICD9:600.1 {source="DOID:13206"} xref: NCIT:C3343 {source="MONDO:equivalentTo"} xref: ONCOTREE:PROSTATE {source="MONDO:equivalentTo"} is_a: EFO:0009602 {source="DOID:13206/inferred", source="MONDO:Redundant", source="NCIT:C3343"} ! prostate disease is_a: EFO:1000051 {source="MONDO:Redundant", source="NCIT:C3343/inferred"} ! reproductive system neoplasm property_value: exactMatch DOID:13206 property_value: exactMatch NCIT:C3343 [Term] id: MONDO:0021271 name: villous adenoma of colon def: "A villous adenoma that involves the colon." [MONDO:patterns/location] synonym: "colon villous adenoma" EXACT [MONDO:patterns/location, NCIT:C3495] synonym: "colonic villous adenoma" EXACT [NCIT:C3495] synonym: "villous adenoma of the colon" EXACT [NCIT:C3495] xref: NCIT:C3495 {source="MONDO:equivalentTo"} xref: SCTID:309084001 {source="MONDO:equivalentTo"} xref: UMLS:C0149862 {source="NCIT:C3495", source="MONDO:equivalentTo"} is_a: MONDO:0000502 {source="MONDO:Redundant", source="NCIT:C3495/inferred"} ! villous adenoma is_a: MONDO:0000527 {source="MONDO:Redundant", source="NCIT:C3495"} ! colon adenoma property_value: exactMatch http://identifiers.org/snomedct/309084001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149862 property_value: exactMatch NCIT:C3495 [Term] id: MONDO:0021272 name: inherited orthostatic hypotension xref: OMIMPS:223360 {source="MONDO:equivalentTo"} xref: Orphanet:448426 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0015914 {source="MONDO:cjm"} ! primary orthostatic hypotension intersection_of: MONDO:0015914 ! primary orthostatic hypotension intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch https://omim.org/phenotypicSeries/PS223360 property_value: exactMatch Orphanet:448426 [Term] id: MONDO:0021279 name: mucoepidermoid carcinoma of submandibular gland def: "A mucoepidermoid carcinoma that involves the submandibular gland." [MONDO:patterns/location] synonym: "mucoepidermoid carcinoma of the submandibular gland" EXACT [NCIT:C5939] synonym: "submandibular gland mucoepidermoid carcinoma" EXACT [MONDO:patterns/location, NCIT:C5939] xref: NCIT:C5939 {source="MONDO:equivalentTo"} xref: SCTID:423424005 {source="MONDO:equivalentTo"} xref: UMLS:C1336524 {source="NCIT:C5939", source="MONDO:equivalentTo"} is_a: EFO:1000346 {source="MONDO:Redundant", source="NCIT:C5939"} ! Major Salivary Gland Mucoepidermoid Carcinoma is_a: MONDO:0004724 {source="MONDO:Redundant", source="NCIT:C5939"} ! submandibular gland cancer property_value: exactMatch http://identifiers.org/snomedct/423424005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336524 property_value: exactMatch NCIT:C5939 [Term] id: MONDO:0021280 name: mucoepidermoid carcinoma of parotid gland def: "A mucoepidermoid carcinoma that involves the parotid gland." [MONDO:patterns/location] synonym: "mucoepidermoid carcinoma of parotid" EXACT [NCIT:C5938] synonym: "mucoepidermoid carcinoma of the parotid" EXACT [NCIT:C5938] synonym: "mucoepidermoid carcinoma of the parotid gland" EXACT [NCIT:C5938] synonym: "parotid gland mucoepidermoid carcinoma" EXACT [MONDO:patterns/location, NCIT:C5938] synonym: "parotid mucoepidermoid carcinoma" EXACT [NCIT:C5938] xref: NCIT:C5938 {source="MONDO:equivalentTo"} xref: SCTID:423793008 {source="MONDO:equivalentTo"} xref: UMLS:C1335363 {source="NCIT:C5938", source="MONDO:equivalentTo"} is_a: EFO:1000346 {source="MONDO:Redundant", source="NCIT:C5938"} ! Major Salivary Gland Mucoepidermoid Carcinoma is_a: EFO:1000460 {source="MONDO:Redundant", source="NCIT:C5938"} ! Parotid Gland Carcinoma property_value: exactMatch http://identifiers.org/snomedct/423793008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335363 property_value: exactMatch NCIT:C5938 [Term] id: MONDO:0021289 name: carcinoma in situ of cecum def: "A in situ carcinoma that involves the caecum." [MONDO:patterns/location] synonym: "caecum carcinoma in situ" EXACT [] synonym: "caecum in situ carcinoma" EXACT [MONDO:patterns/location] synonym: "carcinoma in situ of caecum" EXACT [MONDO:patterns/carcinoma_in_situ] synonym: "carcinoma in situ of the cecum" EXACT [NCIT:C4594] synonym: "cecum carcinoma in situ" EXACT [NCIT:C4594] synonym: "cecum carcinoma in situ aJCC v6" EXACT [NCIT:C4594] synonym: "cecum carcinoma in situ aJCC v7" EXACT [NCIT:C4594] synonym: "stage 0 caecum carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ] synonym: "stage 0 cecum carcinoma" EXACT [NCIT:C4594] xref: NCIT:C4594 {source="MONDO:equivalentTo"} xref: SCTID:92559007 {source="MONDO:equivalentTo"} xref: UMLS:C0347126 {source="NCIT:C4594", source="MONDO:equivalentTo"} is_a: EFO:1000021 {source="MONDO:Redundant", source="NCIT:C4594"} ! cecum carcinoma is_a: MONDO:0004663 ! colon carcinoma in situ property_value: exactMatch http://identifiers.org/snomedct/92559007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347126 property_value: exactMatch NCIT:C4594 [Term] id: MONDO:0021300 name: adenoid cystic carcinoma of oropharynx def: "A adenoid cystic carcinoma that involves the oropharynx." [MONDO:patterns/location] synonym: "adenoid cystic carcinoma of the oropharynx" EXACT [NCIT:C6241] synonym: "oropharyngeal adenoid cystic carcinoma" EXACT [NCIT:C6241] synonym: "oropharyngeal throat adenoid cystic cancer" EXACT [NCIT:C6241] synonym: "oropharynx adenoid cystic carcinoma" EXACT [MONDO:patterns/location] xref: NCIT:C6241 {source="MONDO:equivalentTo"} xref: SCTID:423318000 {source="MONDO:equivalentTo"} xref: UMLS:C1335139 {source="NCIT:C6241", source="MONDO:equivalentTo"} is_a: EFO:0000231 {source="MONDO:Redundant", source="NCIT:C6241/inferred"} ! adenoid cystic carcinoma is_a: MONDO:0044926 ! oropharyngeal carcinoma property_value: exactMatch http://identifiers.org/snomedct/423318000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335139 property_value: exactMatch NCIT:C6241 [Term] id: MONDO:0021301 name: adenoma of nipple def: "A adenoma that involves the nipple." [MONDO:patterns/location] synonym: "adenoma of the nipple" EXACT [NCIT:C4192] synonym: "nipple adenoma" EXACT [MONDO:patterns/location, NCIT:C4192] synonym: "papillomatosis, subareolar duct" EXACT [NCIT:C4192] synonym: "subareolar duct papillomatosis" RELATED [NCIT:C4192] xref: ICDO:8506/0 {source="NCIT:C4192"} xref: NCIT:C4192 {source="MONDO:equivalentTo"} xref: SCTID:302829009 {source="MONDO:equivalentTo"} xref: UMLS:C0334378 {source="MONDO:equivalentTo", source="NCIT:C4192"} is_a: MONDO:0000652 ! integumentary system benign neoplasm is_a: MONDO:0002058 ! breast adenoma is_a: MONDO:0002482 {source="MONDO:Redundant", source="NCIT:C4192/inferred"} ! nipple neoplasm property_value: exactMatch http://identifiers.org/snomedct/302829009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334378 property_value: exactMatch NCIT:C4192 [Term] id: MONDO:0021303 name: adenoma of small intestine def: "A adenoma that involves the small intestine." [MONDO:patterns/location] synonym: "adenoma of small bowel" EXACT [NCIT:C5340] synonym: "adenoma of the small bowel" EXACT [NCIT:C5340] synonym: "adenoma of the small intestine" EXACT [NCIT:C5340] synonym: "small bowel adenoma" EXACT [NCIT:C5340] synonym: "small intestinal adenoma" EXACT [NCIT:C5340] synonym: "small intestine adenoma" EXACT [MONDO:patterns/location] xref: NCIT:C5340 {source="MONDO:equivalentTo"} xref: SCTID:399422005 {source="MONDO:equivalentTo"} xref: UMLS:C1302392 {source="NCIT:C5340", source="MONDO:equivalentTo"} is_a: EFO:1000217 {source="MONDO:Redundant", source="NCIT:C5340"} ! Digestive System Adenoma is_a: MONDO:0004251 {source="MONDO:Redundant", source="NCIT:C5340"} ! small intestine neoplasm property_value: exactMatch http://identifiers.org/snomedct/399422005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1302392 property_value: exactMatch NCIT:C5340 [Term] id: MONDO:0021309 name: malignant neoplasm of endocervix def: "A cancer that involves the endocervix." [MONDO:patterns/location] synonym: "cancer of endocervix" EXACT [MONDO:patterns/cancer] synonym: "endocervix cancer" EXACT [MONDO:patterns/location] synonym: "malignant endocervical neoplasm" EXACT [NCIT:C3553] synonym: "malignant endocervical tumor" EXACT [NCIT:C3553] synonym: "malignant endocervical tumour" EXACT OMO:0003005 [] synonym: "malignant endocervix neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3553] synonym: "malignant endocervix tumor" EXACT [NCIT:C3553] synonym: "malignant endocervix tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of endocervix" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the endocervix" EXACT [NCIT:C3553] synonym: "malignant neoplasm of the uterine endocervix" EXACT [NCIT:C3553] synonym: "malignant neoplasm of uterine endocervix" EXACT [NCIT:C3553] synonym: "malignant tumor of endocervix" EXACT [NCIT:C3553] synonym: "malignant tumor of the endocervix" EXACT [NCIT:C3553] synonym: "malignant tumor of the uterine endocervix" EXACT [NCIT:C3553] synonym: "malignant tumor of uterine endocervix" EXACT [NCIT:C3553] synonym: "malignant tumour of endocervix" EXACT OMO:0003005 [] synonym: "malignant tumour of the endocervix" EXACT OMO:0003005 [] synonym: "malignant tumour of the uterine endocervix" EXACT OMO:0003005 [] synonym: "malignant tumour of uterine endocervix" EXACT OMO:0003005 [] synonym: "malignant uterine endocervix neoplasm" EXACT [NCIT:C3553] synonym: "malignant uterine endocervix tumor" EXACT [NCIT:C3553] synonym: "malignant uterine endocervix tumour" EXACT OMO:0003005 [] xref: ICD10CM:C53.0 {source="MONDO:equivalentTo"} xref: ICD9:180.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3553 {source="MONDO:equivalentTo"} xref: SCTID:372097009 {source="MONDO:equivalentTo"} is_a: MONDO:0002974 {source="MONDO:Redundant", source="NCIT:C3553"} ! cervical cancer property_value: exactMatch http://identifiers.org/snomedct/372097009 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/C53.0 property_value: exactMatch NCIT:C3553 [Term] id: MONDO:0021310 name: malignant tumor of neck def: "A cancer that involves the neck." [MONDO:patterns/location] synonym: "cancer of neck" EXACT [MONDO:patterns/cancer, NCIT:C4940] synonym: "cancer of the neck" EXACT [NCIT:C4940] synonym: "malignant neck neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4940] synonym: "malignant neck tumor" EXACT [NCIT:C4940] synonym: "malignant neck tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of neck" EXACT [MONDO:patterns/cancer, NCIT:C4940] synonym: "malignant neoplasm of the neck" EXACT [NCIT:C4940] synonym: "malignant tumor of the neck" EXACT [NCIT:C4940] synonym: "malignant tumour of the neck" EXACT OMO:0003005 [] synonym: "neck cancer" EXACT [MONDO:patterns/location, NCIT:C4940] xref: NCIT:C4940 {source="MONDO:equivalentTo"} xref: SCTID:363489000 {source="MONDO:equivalentTo"} xref: UMLS:C0746787 {source="MONDO:equivalentTo", source="NCIT:C4940"} is_a: EFO:0006859 {source="MONDO:Redundant", source="NCIT:C4940"} ! head and neck malignant neoplasia is_a: MONDO:0021351 {source="MONDO:Redundant", source="NCIT:C4940"} ! neoplasm of neck property_value: exactMatch http://identifiers.org/snomedct/363489000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0746787 property_value: exactMatch NCIT:C4940 [Term] id: MONDO:0021311 name: malignant tumor of parathyroid gland def: "A cancer that involves the parathyroid gland." [MONDO:patterns/location] synonym: "cancer of parathyroid gland" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of parathyroid" EXACT [NCIT:C9322] synonym: "malignant neoplasm of parathyroid gland" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the parathyroid" EXACT [NCIT:C9322] synonym: "malignant neoplasm of the parathyroid gland" EXACT [NCIT:C9322] synonym: "malignant parathyroid gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9322] synonym: "malignant parathyroid gland tumor" EXACT [NCIT:C9322] synonym: "malignant parathyroid gland tumour" EXACT OMO:0003005 [] synonym: "malignant parathyroid neoplasm" EXACT [NCIT:C9322] synonym: "malignant parathyroid tumor" EXACT [NCIT:C9322] synonym: "malignant parathyroid tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of parathyroid" EXACT [NCIT:C9322] synonym: "malignant tumor of the parathyroid" EXACT [NCIT:C9322] synonym: "malignant tumor of the parathyroid gland" EXACT [NCIT:C9322] synonym: "malignant tumour of parathyroid" EXACT OMO:0003005 [] synonym: "malignant tumour of the parathyroid" EXACT OMO:0003005 [] synonym: "malignant tumour of the parathyroid gland" EXACT OMO:0003005 [] synonym: "parathyroid cancer" EXACT [MONDO:patterns/location] synonym: "parathyroid gland cancer" EXACT [MONDO:patterns/location] xref: ICD9:194.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C9322 {source="MONDO:equivalentTo"} xref: ONCOTREE:PTH {source="MONDO:equivalentTo"} xref: SCTID:363481002 {source="MONDO:equivalentTo"} is_a: MONDO:0021069 ! malignant endocrine neoplasm is_a: MONDO:0021360 {source="MONDO:Redundant", source="NCIT:C9322"} ! tumor of parathyroid gland property_value: exactMatch http://identifiers.org/snomedct/363481002 property_value: exactMatch NCIT:C9322 [Term] id: MONDO:0021312 name: malignant tumor of adrenal cortex def: "A cancer that involves the adrenal cortex." [MONDO:patterns/location] synonym: "adrenal cortex cancer" EXACT [MONDO:patterns/location] synonym: "cancer of adrenal cortex" EXACT [MONDO:patterns/cancer] synonym: "malignant adrenal cortex neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9327] synonym: "malignant adrenal cortex tumor" EXACT [NCIT:C9327] synonym: "malignant adrenal cortex tumour" EXACT OMO:0003005 [] synonym: "malignant adrenocortical neoplasm" EXACT [NCIT:C9327] synonym: "malignant adrenocortical tumor" EXACT [NCIT:C9327] synonym: "malignant adrenocortical tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of adrenal cortex" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the adrenal cortex" EXACT [NCIT:C9327] synonym: "malignant tumor of the adrenal cortex" EXACT [NCIT:C9327] synonym: "malignant tumour of the adrenal cortex" EXACT OMO:0003005 [] xref: NCIT:C9327 {source="MONDO:equivalentTo"} xref: SCTID:371964008 {source="MONDO:equivalentTo"} is_a: MONDO:0002817 {source="MONDO:Redundant", source="NCIT:C9327"} ! adrenal gland cancer is_a: MONDO:0036591 ! adrenal cortex neoplasm property_value: exactMatch http://identifiers.org/snomedct/371964008 property_value: exactMatch NCIT:C9327 [Term] id: MONDO:0021313 name: eyelid cancer def: "A cancer that involves the eyelid." [MONDO:patterns/location] synonym: "cancer of eyelid" EXACT [MONDO:patterns/cancer] synonym: "eyelid cancer" EXACT [MONDO:patterns/location] synonym: "malignant eyelid neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C6786] synonym: "malignant eyelid tumor" EXACT [NCIT:C6786] synonym: "malignant eyelid tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of eyelid" EXACT [MONDO:patterns/cancer, NCIT:C6786] synonym: "malignant neoplasm of the eyelid" EXACT [NCIT:C6786] synonym: "malignant tumor of eyelid" EXACT [NCIT:C6786] synonym: "malignant tumor of the eyelid" EXACT [NCIT:C6786] synonym: "malignant tumour of eyelid" EXACT OMO:0003005 [] synonym: "malignant tumour of the eyelid" EXACT OMO:0003005 [] xref: ICD9:173.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C6786 {source="MONDO:equivalentTo"} xref: SCTID:231829006 {source="MONDO:equivalentTo"} is_a: EFO:1000934 {source="MONDO:Redundant", source="NCIT:C6786"} ! eyelid neoplasm is_a: MONDO:0002236 {source="MONDO:Redundant", source="NCIT:C6786"} ! ocular cancer is_a: MONDO:0002898 ! skin cancer property_value: exactMatch http://identifiers.org/snomedct/231829006 property_value: exactMatch NCIT:C6786 [Term] id: MONDO:0021316 name: malignant tumor of minor salivary gland def: "A cancer that involves the minor salivary gland." [MONDO:patterns/location] synonym: "cancer of minor salivary gland" EXACT [MONDO:patterns/cancer] synonym: "malignant minor salivary gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4410] synonym: "malignant minor salivary gland tumor" EXACT [NCIT:C4410] synonym: "malignant minor salivary gland tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of minor salivary gland" EXACT [MONDO:patterns/cancer, NCIT:C4410] synonym: "malignant neoplasm of the minor salivary gland" EXACT [NCIT:C4410] synonym: "malignant tumor of the minor salivary gland" EXACT [NCIT:C4410] synonym: "malignant tumour of the minor salivary gland" EXACT OMO:0003005 [] synonym: "minor salivary gland cancer" RELATED [MONDO:patterns/location] xref: NCIT:C4410 {source="MONDO:equivalentTo"} xref: SCTID:363485006 {source="MONDO:equivalentTo"} xref: UMLS:C0345614 {source="MONDO:equivalentTo", source="NCIT:C4410"} is_a: MONDO:0004669 ! salivary gland cancer is_a: MONDO:0004727 ! vestibule of mouth cancer is_a: MONDO:0021370 {source="MONDO:Redundant", source="NCIT:C4410"} ! neoplasm of minor salivary gland property_value: exactMatch http://identifiers.org/snomedct/363485006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345614 property_value: exactMatch NCIT:C4410 [Term] id: MONDO:0021320 name: malignant tumor of floor of mouth def: "A cancer that involves the mouth floor." [MONDO:patterns/location] synonym: "cancer of mouth floor" EXACT [MONDO:patterns/cancer] synonym: "malignant floor of mouth neoplasm" EXACT [NCIT:C9318] synonym: "malignant floor of mouth tumor" EXACT [NCIT:C9318] synonym: "malignant floor of mouth tumour" EXACT OMO:0003005 [] synonym: "malignant floor of the mouth neoplasm" EXACT [NCIT:C9318] synonym: "malignant floor of the mouth tumor" EXACT [NCIT:C9318] synonym: "malignant floor of the mouth tumour" EXACT OMO:0003005 [] synonym: "malignant mouth floor neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of floor of mouth" EXACT [NCIT:C9318] synonym: "malignant neoplasm of mouth floor" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the floor of the mouth" EXACT [NCIT:C9318] synonym: "malignant tumor of the floor of the mouth" EXACT [NCIT:C9318] synonym: "malignant tumour of the floor of the mouth" EXACT OMO:0003005 [] synonym: "mouth floor cancer" EXACT [MONDO:patterns/location] xref: ICD9:144.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:144.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C9318 {source="MONDO:equivalentTo"} xref: SCTID:363385007 {source="MONDO:equivalentTo"} is_a: EFO:0006859 {source="MONDO:Redundant", source="NCIT:C9318/inferred"} ! head and neck malignant neoplasia is_a: MONDO:0002516 ! digestive system cancer is_a: MONDO:0021383 {source="MONDO:Redundant", source="NCIT:C9318"} ! neoplasm of floor of mouth property_value: exactMatch http://identifiers.org/snomedct/363385007 property_value: exactMatch NCIT:C9318 [Term] id: MONDO:0021321 name: malignant tumor of extrahepatic bile duct def: "A cancer that involves the extrahepatic bile duct." [MONDO:patterns/location] synonym: "cancer of extrahepatic bile duct" EXACT [MONDO:patterns/cancer] synonym: "extrahepatic bile duct cancer" BROAD [MONDO:patterns/location] synonym: "malignant extrahepatic bile duct neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7483] synonym: "malignant extrahepatic bile duct tumor" EXACT [NCIT:C7483] synonym: "malignant extrahepatic bile duct tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of extrahepatic bile duct" EXACT [MONDO:patterns/cancer, NCIT:C7483] synonym: "malignant neoplasm of the extrahepatic bile duct" EXACT [NCIT:C7483] synonym: "malignant tumor of the extrahepatic bile duct" EXACT [NCIT:C7483] synonym: "malignant tumour of the extrahepatic bile duct" EXACT OMO:0003005 [] xref: ICD9:156.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:156.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C7483 {source="MONDO:equivalentTo"} xref: SCTID:363416002 {source="MONDO:equivalentTo"} xref: UMLS:C0153453 {source="NCIT:C7483", source="MONDO:equivalentTo"} is_a: MONDO:0003059 ! bile duct cancer is_a: MONDO:0021385 {source="MONDO:Redundant", source="NCIT:C7483"} ! extrahepatic bile duct neoplasm property_value: exactMatch http://identifiers.org/snomedct/363416002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153453 property_value: exactMatch NCIT:C7483 [Term] id: MONDO:0021322 name: malignant tumor of meninges def: "A cancer that involves the meningeal cluster." [MONDO:patterns/location] synonym: "cancer of meningeal cluster" EXACT [MONDO:patterns/cancer] synonym: "cancer of meninges" EXACT [NCIT:C4628] synonym: "cancer of the meninges" EXACT [NCIT:C4628] synonym: "malignant meningeal cluster neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant meningeal neoplasms" EXACT [NCIT:C4628] synonym: "malignant meningeal tumor" EXACT [NCIT:C4628] synonym: "malignant meningeal tumour" EXACT OMO:0003005 [] synonym: "malignant meninges neoplasm" EXACT [NCIT:C4628] synonym: "malignant meninges tumor" EXACT [NCIT:C4628] synonym: "malignant meninges tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of meningeal cluster" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of meninges" EXACT [NCIT:C4628] synonym: "malignant neoplasm of the meninges" EXACT [NCIT:C4628] synonym: "malignant neoplasms of meninges" EXACT [NCIT:C4628] synonym: "malignant tumor of the meninges" EXACT [NCIT:C4628] synonym: "malignant tumour of the meninges" EXACT OMO:0003005 [] synonym: "meningeal cancer" EXACT [NCIT:C4628] synonym: "meningeal cluster cancer" EXACT [MONDO:patterns/location] synonym: "meningeal tumors, malignant" EXACT [NCIT:C4628] xref: NCIT:C4628 {source="MONDO:equivalentTo"} xref: SCTID:363497007 {source="MONDO:equivalentTo"} xref: UMLS:C0348375 {source="NCIT:C4628", source="MONDO:equivalentTo"} is_a: EFO:0000326 {source="MONDO:Redundant", source="NCIT:C4628"} ! central nervous system cancer is_a: EFO:0003851 {source="MONDO:Redundant", source="NCIT:C4628"} ! meningeal neoplasm property_value: exactMatch http://identifiers.org/snomedct/363497007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0348375 property_value: exactMatch NCIT:C4628 [Term] id: MONDO:0021327 name: carcinoma of urethra def: "A carcinoma that involves the urethra." [MONDO:patterns/location] synonym: "carcinoma of the urethra" EXACT [NCIT:C9106] synonym: "carcinoma of urethra" EXACT [MONDO:patterns/carcinoma] synonym: "urethra carcinoma" EXACT [MONDO:patterns/location, NCIT:C9106] synonym: "urethral cancer" EXACT [NCIT:C9106] synonym: "urethral carcinoma" EXACT [NCIT:C9106] xref: NCIT:C9106 {source="MONDO:equivalentTo"} xref: SCTID:448954003 {source="MONDO:equivalentTo"} is_a: EFO:0000313 {source="MONDO:Redundant", source="NCIT:C9106"} ! carcinoma is_a: MONDO:0004192 {source="MONDO:Redundant", source="NCIT:C9106"} ! urethra cancer property_value: exactMatch http://identifiers.org/snomedct/448954003 property_value: exactMatch NCIT:C9106 [Term] id: MONDO:0021334 name: immunoproliferative disorder def: "Disorders characterized by abnormal proliferation of primary cells of the immune system or by excessive production of immunoglobulins." [MESH:D007160] synonym: "Disorder, Immunoproliferative" RELATED [MESH:D007160] synonym: "Disorders, Immunoproliferative" RELATED [MESH:D007160] synonym: "Immunoproliferative disease" RELATED [UMLS:C0021070] synonym: "Immunoproliferative Disorder" RELATED [MESH:D007160] synonym: "Immunoproliferative disorder" RELATED [UMLS:C0021070] synonym: "immunoproliferative disorder" EXACT [] synonym: "Immunoproliferative Disorders" RELATED [MESH:D007160] xref: ICD9:203.80 xref: MESH:D007160 {source="UMLS:C0021070", source="MONDO:equivalentTo"} xref: SCTID:127071007 {source="UMLS:C0021070", source="MONDO:equivalentTo"} xref: UMLS:C0021070 {source="MONDO:equivalentTo"} is_a: EFO:0000540 {source="MESH:D007160"} ! immune system disease property_value: exactMatch http://identifiers.org/mesh/D007160 property_value: exactMatch http://identifiers.org/snomedct/127071007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0021070 [Term] id: MONDO:0021335 name: carcinoma of duodenum def: "A carcinoma that involves the duodenum." [MONDO:patterns/location] synonym: "cancer of duodenum" BROAD [NCIT:C4803] synonym: "cancer of the duodenum" BROAD [NCIT:C4803] synonym: "carcinoma of duodenum" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of the duodenum" EXACT [NCIT:C4803] synonym: "duodenal cancer" BROAD [NCIT:C4803] synonym: "duodenal carcinoma" EXACT [NCIT:C4803] synonym: "duodenum carcinoma" EXACT [MONDO:patterns/location] xref: NCIT:C4803 {source="MONDO:equivalentTo"} xref: SCTID:254570009 {source="MONDO:equivalentTo"} is_a: EFO:0005588 {source="MONDO:Redundant", source="NCIT:C4803"} ! small intestine carcinoma is_a: MONDO:0000920 {source="MONDO:Redundant", source="NCIT:C4803"} ! duodenum cancer property_value: exactMatch http://identifiers.org/snomedct/254570009 property_value: exactMatch NCIT:C4803 [Term] id: MONDO:0021337 name: tonsil carcinoma def: "A carcinoma that involves the tonsil." [MONDO:patterns/location] synonym: "cancer of the tonsil" BROAD [NCIT:C4825] synonym: "cancer of tonsil" BROAD [NCIT:C4825] synonym: "carcinoma of the tonsil" EXACT [NCIT:C4825] synonym: "carcinoma of tonsil" EXACT [MONDO:patterns/carcinoma, NCIT:C4825] synonym: "tonsil cancer" BROAD [NCIT:C4825] synonym: "tonsil carcinoma" EXACT [MONDO:patterns/location] synonym: "tonsillar cancer" BROAD [NCIT:C4825] synonym: "tonsillar carcinoma" EXACT [NCIT:C4825] xref: NCIT:C4825 {source="MONDO:equivalentTo"} xref: SCTID:274085008 {source="MONDO:equivalentTo"} xref: UMLS:C0558355 {source="MONDO:equivalentTo", source="NCIT:C4825"} is_a: EFO:1001214 {source="MONDO:Redundant", source="NCIT:C4825"} ! tonsil cancer is_a: MONDO:0044926 ! oropharyngeal carcinoma property_value: exactMatch http://identifiers.org/snomedct/274085008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0558355 property_value: exactMatch NCIT:C4825 [Term] id: MONDO:0021340 name: intertrigo def: "A superficial dermatitis occurring on skin surfaces in contact with each other, such as the axillae, neck creases, intergluteal fold, between the toes, etc. Obesity is a predisposing factor. The condition is caused by moisture and friction and is characterized by erythema, maceration, burning, and exudation." [MESH:D007402] synonym: "Eczema intertrigo" RELATED [UMLS:C0021807] synonym: "Erythema intertrigo" RELATED [UMLS:C0021807] synonym: "Intertrigo" RELATED [MESH:D007402] xref: ICD9:695.89 xref: MESH:D007402 {source="MONDO:equivalentTo", source="UMLS:C0021807"} xref: SCTID:58759008 {source="MONDO:equivalentTo", source="UMLS:C0021807"} xref: UMLS:C0021807 {source="MONDO:equivalentTo"} is_a: MONDO:0002406 {source="MESH:D007402"} ! dermatitis property_value: exactMatch http://identifiers.org/mesh/D007402 property_value: exactMatch http://identifiers.org/snomedct/58759008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0021807 [Term] id: MONDO:0021343 name: carcinoma of floor of mouth def: "A carcinoma that involves the mouth floor." [MONDO:patterns/location] synonym: "carcinoma of mouth floor" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of the floor of the mouth" EXACT [NCIT:C9319] synonym: "floor of mouth carcinoma" EXACT [NCIT:C9319] synonym: "floor of the mouth carcinoma" EXACT [NCIT:C9319] synonym: "mouth floor cancer" BROAD [NCIT:C9319] synonym: "mouth floor carcinoma" EXACT [MONDO:patterns/location] xref: NCIT:C9319 {source="MONDO:equivalentTo"} xref: SCTID:449156009 {source="MONDO:equivalentTo"} is_a: EFO:1000218 ! Digestive System Carcinoma is_a: MONDO:0002038 {source="MONDO:Redundant", source="NCIT:C9319/inferred"} ! head and neck carcinoma is_a: MONDO:0021320 {source="MONDO:Redundant", source="NCIT:C9319"} ! malignant tumor of floor of mouth property_value: exactMatch http://identifiers.org/snomedct/449156009 property_value: exactMatch NCIT:C9319 [Term] id: MONDO:0021345 name: carcinoma of pharynx def: "A carcinoma that involves the pharynx." [MONDO:patterns/location] synonym: "cancer of the pharynx" EXACT [NCIT:C9466] synonym: "carcinoma of pharynx" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of the pharynx" EXACT [NCIT:C9466] synonym: "pharyngeal carcinoma" EXACT [NCIT:C9466] synonym: "pharyngeal throat cancer" EXACT [NCIT:C9466] synonym: "pharynx carcinoma" EXACT [MONDO:patterns/location, NCIT:C9466] xref: NCIT:C9466 {source="MONDO:equivalentTo"} xref: SCTID:449254004 {source="MONDO:equivalentTo"} is_a: EFO:1000218 ! Digestive System Carcinoma is_a: MONDO:0021246 ! pharynx neoplasm property_value: exactMatch http://identifiers.org/snomedct/449254004 property_value: exactMatch NCIT:C9466 [Term] id: MONDO:0021348 name: neoplasm of testis def: "A neoplasm (disease) that involves the testis." [MONDO:patterns/location] synonym: "neoplasm of testis" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the testis" EXACT [NCIT:C3404] synonym: "testicular neoplasm" EXACT [NCIT:C3404] synonym: "testicular tumor" EXACT [NCIT:C3404] synonym: "testicular tumour" EXACT OMO:0003005 [] synonym: "testis neoplasm" EXACT [ONCOTREE:TESTIS] synonym: "testis neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "testis tumor" EXACT [MONDO:patterns/neoplasm] synonym: "testis tumour" EXACT OMO:0003005 [] synonym: "tumor of testis" EXACT [MONDO:patterns/neoplasm, NCIT:C3404] synonym: "tumor of the testis" EXACT [NCIT:C3404] synonym: "tumour of testis" EXACT OMO:0003005 [] synonym: "tumour of the testis" EXACT OMO:0003005 [] xref: EFO:0004281 {source="MONDO:equivalentTo"} xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C3404 {source="MONDO:equivalentTo"} xref: ONCOTREE:TESTIS {source="MONDO:equivalentTo"} xref: SCTID:126900000 {source="MONDO:equivalentTo"} is_a: EFO:0009601 {source="MONDO:Redundant", source="NCIT:C3404"} ! testicular disease is_a: MONDO:0024582 ! male reproductive system neoplasm property_value: exactMatch http://identifiers.org/snomedct/126900000 property_value: exactMatch NCIT:C3404 [Term] id: MONDO:0021350 name: neoplasm of thorax def: "A neoplasm (disease) that involves the thoracic segment of trunk." [MONDO:patterns/location] synonym: "neoplasm of the thorax" EXACT [NCIT:C3406] synonym: "neoplasm of thoracic segment of trunk" EXACT [MONDO:patterns/neoplasm] synonym: "thoracic neoplasm" EXACT [NCIT:C3406] synonym: "thoracic segment of trunk neoplasm" EXACT [] synonym: "thoracic segment of trunk neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "thoracic segment of trunk tumor" EXACT [MONDO:patterns/neoplasm] synonym: "thoracic segment of trunk tumour" EXACT OMO:0003005 [] synonym: "thoracic tumor" EXACT [NCIT:C3406] synonym: "thoracic tumour" EXACT OMO:0003005 [] synonym: "tumor of the thorax" EXACT [NCIT:C3406] synonym: "tumor of thoracic segment of trunk" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of thorax" EXACT [NCIT:C3406] synonym: "tumour of the thorax" EXACT OMO:0003005 [] synonym: "tumour of thoracic segment of trunk" EXACT OMO:0003005 [] synonym: "tumour of thorax" EXACT OMO:0003005 [] xref: ICD10CM:C30-C39 {source="MONDO:relatedTo", source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C3406 {source="MONDO:equivalentTo"} xref: SCTID:255058005 {source="MONDO:equivalentTo"} xref: UMLS:C0039981 {source="MONDO:equivalentTo", source="NCIT:C3406"} is_a: EFO:0000616 {source="MONDO:Redundant", source="NCIT:C3406/inferred"} ! neoplasm property_value: exactMatch http://identifiers.org/snomedct/255058005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039981 property_value: exactMatch NCIT:C3406 property_value: relatedMatch http://purl.bioontology.org/ontology/ICD10CM/C30-C39 [Term] id: MONDO:0021351 name: neoplasm of neck def: "A neoplasm (disease) that involves the neck." [MONDO:patterns/location] synonym: "neck neoplasm" EXACT [NCIT:C3260] synonym: "neck neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "neck neoplasms (Including All pharyngeal related neoplasms)" EXACT [NCIT:C3260] synonym: "neck tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3260] synonym: "neck tumour" EXACT OMO:0003005 [] synonym: "neoplasm of neck" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the neck" EXACT [NCIT:C3260] synonym: "tumor of neck" EXACT [MONDO:patterns/neoplasm, NCIT:C3260] synonym: "tumor of the neck" EXACT [NCIT:C3260] synonym: "tumour of neck" EXACT OMO:0003005 [] synonym: "tumour of the neck" EXACT OMO:0003005 [] xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C3260 {source="MONDO:equivalentTo"} xref: SCTID:126635000 {source="MONDO:equivalentTo"} xref: UMLS:C0027533 {source="NCIT:C3260", source="MONDO:equivalentTo"} is_a: EFO:0005950 {source="MONDO:Redundant", source="NCIT:C3260"} ! head and neck neoplasia property_value: exactMatch http://identifiers.org/snomedct/126635000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027533 property_value: exactMatch NCIT:C3260 [Term] id: MONDO:0021354 name: tumor of adipose tissue def: "A neoplasm (disease) that involves the adipose tissue." [MONDO:patterns/location] synonym: "adipose tissue neoplasm" EXACT [NCIT:C4248] synonym: "adipose tissue neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "adipose tissue tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4248] synonym: "adipose tissue tumour" EXACT OMO:0003005 [] synonym: "lipomatous neoplasm" EXACT [NCIT:C4248] synonym: "lipomatous tumor" EXACT [NCIT:C4248] synonym: "lipomatous tumour" EXACT OMO:0003005 [] synonym: "neoplasm of adipose tissue" EXACT [MONDO:patterns/neoplasm, NCIT:C4248] synonym: "neoplasm of the adipose tissue" EXACT [NCIT:C4248] synonym: "tumor of adipose tissue" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the adipose tissue" EXACT [NCIT:C4248] synonym: "tumour of the adipose tissue" EXACT OMO:0003005 [] xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4248 {source="MONDO:equivalentTo"} xref: SCTID:254831005 {source="MONDO:equivalentTo"} xref: UMLS:C0206631 {source="MONDO:equivalentTo", source="NCIT:C4248"} is_a: MONDO:0002616 {source="NCIT:C4248"} ! mesenchymal cell neoplasm is_a: MONDO:0021581 ! connective tissue neoplasm property_value: exactMatch http://identifiers.org/snomedct/254831005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206631 property_value: exactMatch NCIT:C4248 [Term] id: MONDO:0021355 name: neoplasm of esophagus def: "A neoplasm (disease) that involves the esophagus." [MONDO:patterns/location] synonym: "esophageal neoplasm" EXACT [NCIT:C3028] synonym: "esophageal neoplasms, benign and malignant" EXACT [NCIT:C3028] synonym: "esophageal tumor" EXACT [NCIT:C3028] synonym: "esophageal tumors" EXACT [NCIT:C3028] synonym: "esophageal tumour" EXACT OMO:0003005 [] synonym: "esophageal tumours" EXACT OMO:0003005 [] synonym: "esophagus neoplasm" EXACT [NCIT:C3028] synonym: "esophagus neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "esophagus tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3028] synonym: "neoplasm of esophagus" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the esophagus" EXACT [NCIT:C3028] synonym: "neoplasm of the oesophagus" EXACT OMO:0003005 [] synonym: "oesophagus neoplasm" EXACT OMO:0003005 [] synonym: "oesophagus neoplasm (disease)" EXACT OMO:0003005 [] synonym: "oesophagus tumour" EXACT OMO:0003005 [] synonym: "tumor of esophagus" EXACT [MONDO:patterns/neoplasm, NCIT:C3028] synonym: "tumor of the esophagus" EXACT [NCIT:C3028] synonym: "tumour of oesophagus" EXACT OMO:0003005 [] synonym: "tumour of the oesophagus" EXACT OMO:0003005 [] xref: NCIT:C3028 {source="MONDO:equivalentTo"} xref: SCTID:126817006 {source="MONDO:equivalentTo"} xref: UMLS:C0014859 {source="MONDO:equivalentTo", source="NCIT:C3028"} is_a: EFO:0008549 {source="MONDO:Redundant", source="NCIT:C3028"} ! digestive system neoplasm is_a: EFO:0009544 ! esophageal disease is_a: MONDO:0021350 ! neoplasm of thorax property_value: exactMatch http://identifiers.org/snomedct/126817006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014859 property_value: exactMatch NCIT:C3028 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0021358 name: neoplasm of hypopharynx def: "A neoplasm (disease) that involves the hypopharynx." [MONDO:patterns/location] synonym: "hypopharyngeal neoplasm" EXACT [NCIT:C3127] synonym: "hypopharyngeal neoplasms" EXACT [NCIT:C3127] synonym: "hypopharyngeal tumor" EXACT [NCIT:C3127] synonym: "hypopharyngeal tumour" EXACT OMO:0003005 [] synonym: "hypopharynx neoplasm" EXACT [] synonym: "hypopharynx neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "hypopharynx tumor" EXACT [MONDO:patterns/neoplasm] synonym: "hypopharynx tumour" EXACT OMO:0003005 [] synonym: "neoplasm of hypopharynx" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the hypopharynx" EXACT [NCIT:C3127] synonym: "tumor of hypopharynx" EXACT [MONDO:patterns/neoplasm, NCIT:C3127] synonym: "tumor of the hypopharynx" EXACT [NCIT:C3127] synonym: "tumour of hypopharynx" EXACT OMO:0003005 [] synonym: "tumour of the hypopharynx" EXACT OMO:0003005 [] xref: NCIT:C3127 {source="MONDO:equivalentTo"} xref: SCTID:126686005 {source="MONDO:equivalentTo"} is_a: EFO:0005950 ! head and neck neoplasia is_a: MONDO:0020592 ! disorder of pharynx is_a: MONDO:0021246 {source="MONDO:Redundant", source="NCIT:C3127"} ! pharynx neoplasm property_value: exactMatch http://identifiers.org/snomedct/126686005 property_value: exactMatch NCIT:C3127 [Term] id: MONDO:0021360 name: tumor of parathyroid gland def: "A neoplasm (disease) that involves the parathyroid gland." [MONDO:patterns/location] synonym: "neoplasm of parathyroid" EXACT [NCIT:C3313] synonym: "neoplasm of parathyroid gland" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the parathyroid" EXACT [NCIT:C3313] synonym: "neoplasm of the parathyroid gland" EXACT [NCIT:C3313] synonym: "parathyroid gland neoplasm" EXACT [NCIT:C3313] synonym: "parathyroid gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "parathyroid gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3313] synonym: "parathyroid gland tumour" EXACT OMO:0003005 [] synonym: "parathyroid neoplasm" EXACT [NCIT:C3313] synonym: "parathyroid tumor" EXACT [NCIT:C3313] synonym: "parathyroid tumour" EXACT OMO:0003005 [] synonym: "tumor of parathyroid" EXACT [NCIT:C3313] synonym: "tumor of parathyroid gland" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the parathyroid" EXACT [NCIT:C3313] synonym: "tumor of the parathyroid gland" EXACT [NCIT:C3313] synonym: "tumour of parathyroid" EXACT OMO:0003005 [] synonym: "tumour of the parathyroid" EXACT OMO:0003005 [] synonym: "tumour of the parathyroid gland" EXACT OMO:0003005 [] xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C3313 {source="MONDO:equivalentTo"} xref: SCTID:127020005 {source="MONDO:equivalentTo"} is_a: EFO:0003769 ! endocrine neoplasm is_a: EFO:0005754 {source="MONDO:Redundant", source="NCIT:C3313"} ! parathyroid disease property_value: exactMatch http://identifiers.org/snomedct/127020005 property_value: exactMatch NCIT:C3313 [Term] id: MONDO:0021364 name: neoplasm of oropharynx def: "A neoplasm (disease) that involves the oropharynx." [MONDO:patterns/location] synonym: "neoplasm of oropharynx" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the oropharynx" EXACT [NCIT:C3291] synonym: "oropharyngeal neoplasm" EXACT [NCIT:C3291] synonym: "oropharyngeal neoplasms" EXACT [NCIT:C3291] synonym: "oropharyngeal tumor" EXACT [NCIT:C3291] synonym: "oropharyngeal tumour" EXACT OMO:0003005 [] synonym: "oropharynx neoplasm" EXACT [] synonym: "oropharynx neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "oropharynx tumor" EXACT [MONDO:patterns/neoplasm] synonym: "oropharynx tumour" EXACT OMO:0003005 [] synonym: "tumor of oropharynx" EXACT [MONDO:patterns/neoplasm, NCIT:C3291] synonym: "tumor of the oropharynx" EXACT [NCIT:C3291] synonym: "tumour of oropharynx" EXACT OMO:0003005 [] synonym: "tumour of the oropharynx" EXACT OMO:0003005 [] xref: NCIT:C3291 {source="MONDO:equivalentTo"} xref: SCTID:126809003 {source="MONDO:equivalentTo"} xref: UMLS:C0029295 {source="MONDO:equivalentTo", source="NCIT:C3291"} is_a: EFO:0000405 {source="MONDO:Entailed"} ! digestive system disease is_a: EFO:0005950 ! head and neck neoplasia is_a: MONDO:0020592 ! disorder of pharynx is_a: MONDO:0021246 {source="MONDO:Redundant", source="NCIT:C3291"} ! pharynx neoplasm property_value: exactMatch http://identifiers.org/snomedct/126809003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029295 property_value: exactMatch NCIT:C3291 [Term] id: MONDO:0021366 name: neoplasm of middle ear def: "A neoplasm (disease) that involves the middle ear." [MONDO:patterns/location] synonym: "middle Ear neoplasm" EXACT [NCIT:C4412] synonym: "middle ear neoplasm" EXACT [] synonym: "middle ear neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "middle Ear tumor" EXACT [NCIT:C4412] synonym: "middle ear tumor" EXACT [MONDO:patterns/neoplasm] synonym: "middle Ear tumour" EXACT OMO:0003005 [] synonym: "middle ear tumour" EXACT OMO:0003005 [] synonym: "neoplasm of middle ear" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the middle Ear" EXACT [NCIT:C4412] synonym: "tumor of middle Ear" EXACT [NCIT:C4412] synonym: "tumor of middle ear" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the middle Ear" EXACT [NCIT:C4412] synonym: "tumour of middle Ear" EXACT OMO:0003005 [] synonym: "tumour of middle ear" EXACT OMO:0003005 [] synonym: "tumour of the middle Ear" EXACT OMO:0003005 [] xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4412 {source="MONDO:equivalentTo"} xref: SCTID:127006003 {source="MONDO:equivalentTo"} is_a: MONDO:0003276 {source="MONDO:Redundant", source="NCIT:C4412"} ! middle ear disorder is_a: MONDO:0021233 {source="MONDO:Redundant", source="NCIT:C4412"} ! ear neoplasm property_value: exactMatch http://identifiers.org/snomedct/127006003 property_value: exactMatch NCIT:C4412 [Term] id: MONDO:0021368 name: neoplasm of major salivary gland def: "A neoplasm (disease) that involves the major salivary gland." [MONDO:patterns/location] synonym: "major salivary gland neoplasm" EXACT [NCIT:C4407] synonym: "major salivary gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "major salivary gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4407] synonym: "major salivary gland tumour" EXACT OMO:0003005 [] synonym: "neoplasm of major salivary gland" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the Major salivary gland" EXACT [NCIT:C4407] synonym: "tumor of Major salivary gland" EXACT [NCIT:C4407] synonym: "tumor of major salivary gland" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the Major salivary gland" EXACT [NCIT:C4407] synonym: "tumour of Major salivary gland" EXACT OMO:0003005 [] synonym: "tumour of major salivary gland" EXACT OMO:0003005 [] synonym: "tumour of the Major salivary gland" EXACT OMO:0003005 [] xref: NCIT:C4407 {source="MONDO:equivalentTo"} xref: SCTID:126787005 {source="MONDO:equivalentTo"} xref: UMLS:C0345599 {source="MONDO:equivalentTo", source="NCIT:C4407"} is_a: EFO:1000384 {source="MONDO:Redundant", source="NCIT:C4407"} ! Mixed Tumor of the Salivary Gland property_value: exactMatch http://identifiers.org/snomedct/126787005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345599 property_value: exactMatch NCIT:C4407 [Term] id: MONDO:0021370 name: neoplasm of minor salivary gland def: "A neoplasm (disease) that involves the minor salivary gland." [MONDO:patterns/location] synonym: "minor salivary gland neoplasm" EXACT [NCIT:C4409] synonym: "minor salivary gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "minor salivary gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4409] synonym: "minor salivary gland tumour" EXACT OMO:0003005 [] synonym: "neoplasm of minor salivary gland" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the minor salivary gland" EXACT [NCIT:C4409] synonym: "tumor of minor salivary gland" EXACT [MONDO:patterns/neoplasm, NCIT:C4409] synonym: "tumor of the minor salivary gland" EXACT [NCIT:C4409] synonym: "tumour of minor salivary gland" EXACT OMO:0003005 [] synonym: "tumour of the minor salivary gland" EXACT OMO:0003005 [] xref: NCIT:C4409 {source="MONDO:equivalentTo"} xref: SCTID:126798006 {source="MONDO:equivalentTo"} xref: UMLS:C0345613 {source="NCIT:C4409", source="MONDO:equivalentTo"} is_a: EFO:1000384 {source="MONDO:Redundant", source="NCIT:C4409"} ! Mixed Tumor of the Salivary Gland is_a: MONDO:0044992 ! mouth mucosa disorder property_value: exactMatch http://identifiers.org/snomedct/126798006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345613 property_value: exactMatch NCIT:C4409 [Term] id: MONDO:0021374 name: neoplasm of cerebral hemisphere def: "A neoplasm involving a cerebral hemisphere." [MONDO:patterns/neoplasm] synonym: "cerebral hemisphere neoplasm" EXACT [] synonym: "cerebral hemisphere tumor" EXACT [MONDO:patterns/neoplasm] synonym: "cerebral hemisphere tumour" EXACT OMO:0003005 [] synonym: "cerebral hemispheric neoplasm" EXACT [NCIT:C4874] synonym: "cerebral hemispheric tumor" EXACT [NCIT:C4874] synonym: "cerebral hemispheric tumour" EXACT OMO:0003005 [] synonym: "cerebral neoplasm" EXACT [NCIT:C4874] synonym: "cerebral neoplasms" EXACT [NCIT:C4874] synonym: "cerebral tumor" EXACT [NCIT:C4874] synonym: "cerebral tumour" EXACT OMO:0003005 [] synonym: "neoplasm of cerebral hemisphere" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of cerebral hemispheres" EXACT [NCIT:C4874] synonym: "neoplasm of cerebrum" EXACT [NCIT:C4874] synonym: "neoplasm of telencephalon" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the cerebral hemispheres" EXACT [NCIT:C4874] synonym: "neoplasm of the cerebrum" EXACT [NCIT:C4874] synonym: "telencephalon neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "telencephalon tumor" EXACT [MONDO:patterns/neoplasm] synonym: "telencephalon tumour" EXACT OMO:0003005 [] synonym: "tumor of cerebral hemisphere" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of cerebral hemispheres" EXACT [NCIT:C4874] synonym: "tumor of cerebrum" EXACT [NCIT:C4874] synonym: "tumor of telencephalon" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the cerebral hemispheres" EXACT [NCIT:C4874] synonym: "tumor of the cerebrum" EXACT [NCIT:C4874] synonym: "tumour of cerebral hemisphere" EXACT OMO:0003005 [] synonym: "tumour of cerebral hemispheres" EXACT OMO:0003005 [] synonym: "tumour of cerebrum" EXACT OMO:0003005 [] synonym: "tumour of telencephalon" EXACT OMO:0003005 [] synonym: "tumour of the cerebral hemispheres" EXACT OMO:0003005 [] synonym: "tumour of the cerebrum" EXACT OMO:0003005 [] xref: NCIT:C4874 {source="MONDO:equivalentTo"} xref: SCTID:126953009 {source="MONDO:equivalentTo"} is_a: EFO:0003833 {source="MONDO:Redundant", source="NCIT:C4874/inferred"} ! brain neoplasm property_value: exactMatch http://identifiers.org/snomedct/126953009 property_value: exactMatch NCIT:C4874 [Term] id: MONDO:0021375 name: tumor of duodenum def: "A neoplasm (disease) that involves the duodenum." [MONDO:patterns/location] synonym: "duodenal neoplasm" EXACT [NCIT:C2995] synonym: "duodenal tumor" EXACT [NCIT:C2995] synonym: "duodenal tumour" EXACT OMO:0003005 [] synonym: "duodenum neoplasm" EXACT [] synonym: "duodenum neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "duodenum tumor" EXACT [MONDO:patterns/neoplasm] synonym: "duodenum tumour" EXACT OMO:0003005 [] synonym: "neoplasm of duodenum" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the duodenum" EXACT [NCIT:C2995] synonym: "tumor of duodenum" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the duodenum" EXACT [NCIT:C2995] synonym: "tumour of the duodenum" EXACT OMO:0003005 [] xref: NCIT:C2995 {source="MONDO:equivalentTo"} xref: SCTID:126833009 {source="MONDO:equivalentTo"} is_a: MONDO:0002866 {source="MONDO:Redundant"} ! duodenal disorder is_a: MONDO:0004251 {source="MONDO:Redundant", source="NCIT:C2995"} ! small intestine neoplasm property_value: exactMatch http://identifiers.org/snomedct/126833009 property_value: exactMatch NCIT:C2995 [Term] id: MONDO:0021381 name: neoplasm of pericardium def: "A neoplasm (disease) that involves the pericardium." [MONDO:patterns/location] synonym: "neoplasm of pericardium" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the pericardium" EXACT [NCIT:C4651] synonym: "pericardial neoplasm" EXACT [NCIT:C4651] synonym: "pericardial tumor" EXACT [NCIT:C4651] synonym: "pericardial tumour" EXACT OMO:0003005 [] synonym: "pericardium neoplasm" EXACT [] synonym: "pericardium neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "pericardium tumor" EXACT [MONDO:patterns/neoplasm] synonym: "pericardium tumour" EXACT OMO:0003005 [] synonym: "tumor of pericardium" EXACT [MONDO:patterns/neoplasm, NCIT:C4651] synonym: "tumor of the pericardium" EXACT [NCIT:C4651] synonym: "tumour of pericardium" EXACT OMO:0003005 [] synonym: "tumour of the pericardium" EXACT OMO:0003005 [] xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4651 {source="MONDO:equivalentTo"} xref: SCTID:126734005 {source="MONDO:equivalentTo"} is_a: MONDO:0000474 ! pericardium disorder is_a: MONDO:0021350 {source="MONDO:Redundant", source="NCIT:C4651/inferred"} ! neoplasm of thorax is_a: MONDO:0024757 ! cardiovascular neoplasm property_value: exactMatch http://identifiers.org/snomedct/126734005 property_value: exactMatch NCIT:C4651 [Term] id: MONDO:0021383 name: neoplasm of floor of mouth def: "A neoplasm (disease) that involves the mouth floor." [MONDO:patterns/location] synonym: "floor of mouth neoplasm" EXACT [NCIT:C4401] synonym: "floor of mouth tumor" EXACT [NCIT:C4401] synonym: "floor of mouth tumour" EXACT OMO:0003005 [] synonym: "floor of the mouth neoplasm" EXACT [NCIT:C4401] synonym: "floor of the mouth tumor" EXACT [NCIT:C4401] synonym: "floor of the mouth tumour" EXACT OMO:0003005 [] synonym: "mouth floor neoplasm" EXACT [] synonym: "mouth floor neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "mouth floor tumor" EXACT [MONDO:patterns/neoplasm] synonym: "mouth floor tumour" EXACT OMO:0003005 [] synonym: "neoplasm of mouth floor" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the floor of the mouth" EXACT [NCIT:C4401] synonym: "tumor of floor of mouth" EXACT [NCIT:C4401] synonym: "tumor of mouth floor" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the floor of the mouth" EXACT [NCIT:C4401] synonym: "tumour of floor of mouth" EXACT OMO:0003005 [] synonym: "tumour of mouth floor" EXACT OMO:0003005 [] synonym: "tumour of the floor of the mouth" EXACT OMO:0003005 [] xref: NCIT:C4401 {source="MONDO:equivalentTo"} xref: SCTID:126799003 {source="MONDO:equivalentTo"} xref: UMLS:C0345538 {source="MONDO:equivalentTo", source="NCIT:C4401"} is_a: EFO:0005950 {source="MONDO:Redundant", source="NCIT:C4401/inferred"} ! head and neck neoplasia is_a: EFO:0008549 ! digestive system neoplasm is_a: EFO:1001047 {source="MONDO:Redundant", source="NCIT:C4401/inferred"} ! mouth disease property_value: exactMatch http://identifiers.org/snomedct/126799003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345538 property_value: exactMatch NCIT:C4401 [Term] id: MONDO:0021385 name: extrahepatic bile duct neoplasm def: "A benign or malignant neoplasm that affects the extrahepatic bile ducts. Representative examples include adenoma and adenocarcinoma." [NCIT:C4441] synonym: "extrahepatic bile duct neoplasm" EXACT [NCIT:C4441] synonym: "extrahepatic bile duct neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "extrahepatic bile duct tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4441] synonym: "extrahepatic bile duct tumour" EXACT OMO:0003005 [] synonym: "neoplasm of extrahepatic bile duct" EXACT [MONDO:patterns/neoplasm, NCIT:C4441] synonym: "neoplasm of the extrahepatic bile duct" EXACT [NCIT:C4441] synonym: "tumor of extrahepatic bile duct" EXACT [MONDO:patterns/neoplasm, NCIT:C4441] synonym: "tumor of the extrahepatic bile duct" EXACT [NCIT:C4441] synonym: "tumour of extrahepatic bile duct" EXACT OMO:0003005 [] synonym: "tumour of the extrahepatic bile duct" EXACT OMO:0003005 [] xref: NCIT:C4441 {source="MONDO:equivalentTo"} xref: SCTID:126855001 {source="MONDO:equivalentTo"} xref: UMLS:C0345913 {source="NCIT:C4441", source="MONDO:equivalentTo"} is_a: MONDO:0021662 {source="MONDO:Redundant", source="NCIT:C4441"} ! bile duct neoplasm property_value: exactMatch http://identifiers.org/snomedct/126855001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345913 property_value: exactMatch NCIT:C4441 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3673 xsd:anyURI [Term] id: MONDO:0021386 name: neoplasm of mediastinum def: "A neoplasm (disease) that involves the mediastinum." [MONDO:patterns/location] synonym: "mediastinal neoplasm" EXACT [NCIT:C3221] synonym: "mediastinal tumor" EXACT [NCIT:C3221] synonym: "mediastinal tumour" EXACT OMO:0003005 [] synonym: "mediastinum neoplasm" EXACT [] synonym: "mediastinum neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "mediastinum tumor" EXACT [MONDO:patterns/neoplasm] synonym: "mediastinum tumour" EXACT OMO:0003005 [] synonym: "neoplasm of mediastinum" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the mediastinum" EXACT [NCIT:C3221] synonym: "tumor of mediastinum" EXACT [MONDO:patterns/neoplasm, NCIT:C3221] synonym: "tumor of the mediastinum" EXACT [NCIT:C3221] synonym: "tumour of mediastinum" EXACT OMO:0003005 [] synonym: "tumour of the mediastinum" EXACT OMO:0003005 [] xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C3221 {source="MONDO:equivalentTo"} xref: SCTID:126725000 {source="MONDO:equivalentTo"} is_a: MONDO:0021350 {source="MONDO:Redundant", source="NCIT:C3221"} ! neoplasm of thorax property_value: exactMatch http://identifiers.org/snomedct/126725000 property_value: exactMatch NCIT:C3221 [Term] id: MONDO:0021392 name: polyp of large intestine def: "A polyp that involves the large intestine." [MONDO:patterns/location] synonym: "colorectal polyp" EXACT [NCIT:C5679] synonym: "large bowel polyp" EXACT [NCIT:C5679] synonym: "large intestine polyp" EXACT [MONDO:patterns/location, NCIT:C5679] synonym: "polyp of large bowel" EXACT [NCIT:C5679] synonym: "polyp of the large bowel" EXACT [NCIT:C5679] synonym: "polyp of the large intestine" EXACT [NCIT:C5679] xref: NCIT:C5679 {source="MONDO:equivalentTo"} xref: SCTID:399505005 {source="MONDO:equivalentTo"} xref: UMLS:C0949059 {source="MONDO:equivalentTo", source="NCIT:C5679"} is_a: EFO:0000662 {source="MONDO:Redundant", source="NCIT:C5679/inferred"} ! polyp is_a: MONDO:0024634 ! large intestine disorder property_value: exactMatch http://identifiers.org/snomedct/399505005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0949059 property_value: exactMatch NCIT:C5679 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0021396 name: polyp of vulva def: "A polyp that involves the mammalian vulva." [MONDO:patterns/location] synonym: "mammalian vulva polyp" EXACT [MONDO:patterns/location] synonym: "polyp of the vulva" EXACT [NCIT:C3978] synonym: "vulva polyp" EXACT [NCIT:C3978] synonym: "vulvar polyp" EXACT [NCIT:C3978] xref: ICD10CM:N84.3 {source="MONDO:equivalentTo"} xref: ICD9:624.6 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3978 {source="MONDO:equivalentTo"} xref: SCTID:57158005 {source="MONDO:equivalentTo"} xref: UMLS:C0269218 {source="MONDO:equivalentTo", source="NCIT:C3978"} is_a: EFO:0000662 {source="ICD10CM:N84.3", source="MONDO:Redundant", source="NCIT:C3978"} ! polyp is_a: EFO:0009549 ! female reproductive system disease property_value: exactMatch http://identifiers.org/snomedct/57158005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0269218 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/N84.3 property_value: exactMatch NCIT:C3978 [Term] id: MONDO:0021398 name: polyp of rectum def: "A polyp that involves the rectum." [MONDO:patterns/location] synonym: "polyp of the rectum" EXACT [NCIT:C3351] synonym: "rectal polyp" EXACT [NCIT:C3351] synonym: "rectum polyp" EXACT [MONDO:patterns/location] xref: NCIT:C3351 {source="MONDO:equivalentTo"} xref: SCTID:39772007 {source="MONDO:equivalentTo"} xref: UMLS:C0034887 {source="NCIT:C3351", source="MONDO:equivalentTo"} is_a: EFO:0009685 ! rectal disease is_a: MONDO:0021392 {source="MONDO:Redundant", source="NCIT:C3351"} ! polyp of large intestine property_value: exactMatch http://identifiers.org/snomedct/39772007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034887 property_value: exactMatch NCIT:C3351 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0021400 name: polyp of colon def: "A polyp that involves the colon." [MONDO:patterns/location] synonym: "colon polyp" EXACT [MONDO:patterns/location, NCIT:C2954] synonym: "colonic polyp" EXACT [NCIT:C2954] synonym: "polyp of the colon" EXACT [NCIT:C2954] xref: ICD10CM:K63.5 {source="MONDO:equivalentTo"} xref: MESH:D003111 {source="MONDO:equivalentTo"} xref: NCIT:C2954 {source="MONDO:equivalentTo"} xref: SCTID:68496003 {source="MONDO:equivalentTo"} is_a: MONDO:0003409 ! colonic disorder is_a: MONDO:0021392 {source="MONDO:Redundant", source="NCIT:C2954"} ! polyp of large intestine property_value: exactMatch http://identifiers.org/mesh/D003111 property_value: exactMatch http://identifiers.org/snomedct/68496003 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/K63.5 property_value: exactMatch NCIT:C2954 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0021416 name: polyp of gallbladder def: "A polyp that involves the gall bladder." [MONDO:patterns/location] synonym: "gall bladder polyp" EXACT [MONDO:patterns/location] synonym: "gallbladder polyp" EXACT [NCIT:C3909] synonym: "polyp of the gallbladder" EXACT [NCIT:C3909] xref: NCIT:C3909 {source="MONDO:equivalentTo"} xref: SCTID:197433003 {source="MONDO:equivalentTo"} xref: UMLS:C0262493 {source="MONDO:equivalentTo", source="NCIT:C3909"} is_a: EFO:0000662 {source="MONDO:Redundant", source="NCIT:C3909/inferred"} ! polyp is_a: EFO:0003832 ! gallbladder disease property_value: exactMatch http://identifiers.org/snomedct/197433003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0262493 property_value: exactMatch NCIT:C3909 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0021439 name: benign neoplasm of pituitary gland def: "A benign neoplasm that involves the pituitary gland." [MONDO:patterns/location] synonym: "benign neoplasm of pituitary" EXACT [NCIT:C4782] synonym: "benign neoplasm of the pituitary" EXACT [NCIT:C4782] synonym: "benign neoplasm of the pituitary gland" EXACT [NCIT:C4782] synonym: "benign pituitary gland neoplasm" EXACT [NCIT:C4782] synonym: "benign pituitary gland tumor" EXACT [NCIT:C4782] synonym: "benign pituitary gland tumour" EXACT OMO:0003005 [] synonym: "benign pituitary neoplasm" EXACT [NCIT:C4782] synonym: "benign pituitary tumor" EXACT [NCIT:C4782] synonym: "benign pituitary tumour" EXACT OMO:0003005 [] synonym: "benign tumor of pituitary" EXACT [NCIT:C4782] synonym: "benign tumor of pituitary gland" EXACT [NCIT:C4782] synonym: "benign tumor of the pituitary" EXACT [NCIT:C4782] synonym: "benign tumor of the pituitary gland" EXACT [NCIT:C4782] synonym: "benign tumour of pituitary" EXACT OMO:0003005 [] synonym: "benign tumour of pituitary gland" EXACT OMO:0003005 [] synonym: "benign tumour of the pituitary" EXACT OMO:0003005 [] synonym: "benign tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "pituitary gland benign neoplasm" EXACT [MONDO:patterns/location] synonym: "pituitary neoplasms, benign" EXACT [NCIT:C4782] synonym: "pituitary tumor, benign" EXACT [NCIT:C4782] xref: DOID:60009 {source="MONDO:equivalentTo"} xref: ICD10CM:D35.2 {source="MONDO:equivalentTo"} xref: NCIT:C4782 {source="MONDO:equivalentTo"} xref: SCTID:92296004 {source="MONDO:equivalentTo"} xref: UMLS:C0496901 {source="NCIT:C4782", source="MONDO:equivalentTo"} is_a: EFO:1000107 {source="MONDO:Redundant", source="NCIT:C4782/inferred"} ! Benign Brain Neoplasm is_a: MONDO:0000627 {source="MONDO:Redundant"} ! benign endocrine neoplasm is_a: MONDO:0000631 ! bone benign neoplasm is_a: MONDO:0017611 ! pituitary tumor property_value: exactMatch DOID:60009 property_value: exactMatch http://identifiers.org/snomedct/92296004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0496901 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D35.2 property_value: exactMatch NCIT:C4782 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0021440 name: benign neoplasm of skin def: "A benign neoplasm that involves the zone of skin." [MONDO:patterns/location] synonym: "benign cutaneous neoplasm" EXACT [NCIT:C2896] synonym: "benign cutaneous tumor" EXACT [NCIT:C2896] synonym: "benign cutaneous tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the skin" EXACT [NCIT:C2896] synonym: "benign skin neoplasm" EXACT [NCIT:C2896] synonym: "benign skin tumor" EXACT [NCIT:C2896] synonym: "benign skin tumour" EXACT OMO:0003005 [] synonym: "benign tumor of skin" EXACT [NCIT:C2896] synonym: "benign tumor of the skin" EXACT [NCIT:C2896] synonym: "benign tumour of skin" EXACT OMO:0003005 [] synonym: "benign tumour of the skin" EXACT OMO:0003005 [] synonym: "skin neoplasms, benign" EXACT [NCIT:C2896] synonym: "zone of skin benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD9:216.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:216.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C2896 {source="MONDO:equivalentTo"} xref: SCTID:92384009 {source="MONDO:equivalentTo"} xref: UMLS:C0004998 {source="MONDO:equivalentTo", source="NCIT:C2896"} is_a: EFO:0004198 {source="MONDO:Redundant", source="NCIT:C2896"} ! skin neoplasm is_a: MONDO:0000652 ! integumentary system benign neoplasm property_value: exactMatch http://identifiers.org/snomedct/92384009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004998 property_value: exactMatch NCIT:C2896 [Term] id: MONDO:0021444 name: benign neoplasm of large intestine def: "A benign neoplasm that involves the large intestine." [MONDO:patterns/location] synonym: "benign colorectal neoplasm" EXACT [NCIT:C4610] synonym: "benign colorectal neoplasms" EXACT [NCIT:C4610] synonym: "benign colorectal tumor" EXACT [NCIT:C4610] synonym: "benign colorectal tumors" EXACT [NCIT:C4610] synonym: "benign colorectal tumour" EXACT OMO:0003005 [] synonym: "benign colorectal tumours" EXACT OMO:0003005 [] synonym: "benign large bowel neoplasm" EXACT [NCIT:C4610] synonym: "benign large bowel tumor" EXACT [NCIT:C4610] synonym: "benign large bowel tumour" EXACT OMO:0003005 [] synonym: "benign large intestine neoplasm" EXACT [NCIT:C4610] synonym: "benign large intestine tumor" EXACT [NCIT:C4610] synonym: "benign large intestine tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of large bowel" EXACT [NCIT:C4610] synonym: "benign neoplasm of the large bowel" EXACT [NCIT:C4610] synonym: "benign neoplasm of the large intestine" EXACT [NCIT:C4610] synonym: "benign tumor of large bowel" EXACT [NCIT:C4610] synonym: "benign tumor of large intestine" EXACT [NCIT:C4610] synonym: "benign tumor of the large bowel" EXACT [NCIT:C4610] synonym: "benign tumor of the large intestine" EXACT [NCIT:C4610] synonym: "benign tumour of large bowel" EXACT OMO:0003005 [] synonym: "benign tumour of large intestine" EXACT OMO:0003005 [] synonym: "benign tumour of the large bowel" EXACT OMO:0003005 [] synonym: "benign tumour of the large intestine" EXACT OMO:0003005 [] synonym: "colorectal neoplasms, benign" EXACT [NCIT:C4610] synonym: "colorectal tumors, benign" EXACT [NCIT:C4610] synonym: "large intestine benign neoplasm" EXACT [MONDO:patterns/location] synonym: "neoplasms, colorectal, benign" EXACT [NCIT:C4610] synonym: "tumors, colorectal, benign" EXACT [NCIT:C4610] xref: NCIT:C4610 {source="MONDO:equivalentTo"} xref: SCTID:92170008 {source="MONDO:equivalentTo"} xref: UMLS:C0347272 {source="MONDO:equivalentTo", source="NCIT:C4610"} is_a: MONDO:0003062 {source="MONDO:Redundant", source="NCIT:C4610"} ! intestinal benign neoplasm is_a: MONDO:0024634 ! large intestine disorder property_value: exactMatch http://identifiers.org/snomedct/92170008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347272 property_value: exactMatch NCIT:C4610 [Term] id: MONDO:0021445 name: benign neoplasm of oral cavity def: "A benign neoplasm that involves the oral cavity." [MONDO:patterns/location] synonym: "benign mouth neoplasm" EXACT [NCIT:C7607] synonym: "benign mouth tumor" EXACT [NCIT:C7607] synonym: "benign mouth tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of mouth" EXACT [NCIT:C7607] synonym: "benign neoplasm of the mouth" EXACT [NCIT:C7607] synonym: "benign neoplasm of the oral cavity" EXACT [NCIT:C7607] synonym: "benign oral cavity neoplasm" EXACT [NCIT:C7607] synonym: "benign oral cavity tumor" EXACT [NCIT:C7607] synonym: "benign oral cavity tumour" EXACT OMO:0003005 [] synonym: "benign tumor of mouth" EXACT [NCIT:C7607] synonym: "benign tumor of oral cavity" EXACT [NCIT:C7607] synonym: "benign tumor of the mouth" EXACT [NCIT:C7607] synonym: "benign tumor of the oral cavity" EXACT [NCIT:C7607] synonym: "benign tumour of mouth" EXACT OMO:0003005 [] synonym: "benign tumour of oral cavity" EXACT OMO:0003005 [] synonym: "benign tumour of the mouth" EXACT OMO:0003005 [] synonym: "benign tumour of the oral cavity" EXACT OMO:0003005 [] synonym: "oral cavity benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD9:210.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C7607 {source="MONDO:equivalentTo"} xref: SCTID:419645003 {source="MONDO:equivalentTo"} xref: UMLS:C0347197 {source="MONDO:equivalentTo", source="NCIT:C7607"} is_a: EFO:0002422 ! benign neoplasm is_a: EFO:0003868 {source="MONDO:Redundant", source="NCIT:C7607"} ! mouth neoplasm property_value: exactMatch http://identifiers.org/snomedct/419645003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347197 property_value: exactMatch NCIT:C7607 [Term] id: MONDO:0021449 name: benign neoplasm of stomach def: "A benign neoplasm that involves the stomach." [MONDO:patterns/location] synonym: "benign gastric neoplasm" EXACT [NCIT:C3599] synonym: "benign gastric tumor" EXACT [NCIT:C3599] synonym: "benign gastric tumors" EXACT [NCIT:C3599] synonym: "benign gastric tumour" EXACT OMO:0003005 [] synonym: "benign gastric tumours" EXACT OMO:0003005 [] synonym: "benign neoplasm of the stomach" EXACT [NCIT:C3599] synonym: "benign stomach neoplasms" EXACT [NCIT:C3599] synonym: "benign stomach tumors" EXACT [NCIT:C3599] synonym: "benign stomach tumours" EXACT OMO:0003005 [] synonym: "benign tumor of stomach" EXACT [NCIT:C3599] synonym: "benign tumor of the stomach" EXACT [NCIT:C3599] synonym: "benign tumors of stomach" EXACT [NCIT:C3599] synonym: "benign tumors of the stomach" EXACT [NCIT:C3599] synonym: "benign tumour of stomach" EXACT OMO:0003005 [] synonym: "benign tumour of the stomach" EXACT OMO:0003005 [] synonym: "benign tumours of stomach" EXACT OMO:0003005 [] synonym: "benign tumours of the stomach" EXACT OMO:0003005 [] synonym: "gastric neoplasms, benign" EXACT [NCIT:C3599] synonym: "gastric tumors, benign" EXACT [NCIT:C3599] synonym: "stomach benign neoplasm" EXACT [MONDO:patterns/location] synonym: "stomach neoplasms, benign" EXACT [NCIT:C3599] synonym: "stomach tumors, benign" EXACT [NCIT:C3599] xref: ICD10CM:D13.1 {source="MONDO:equivalentTo"} xref: ICD9:211.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3599 {source="MONDO:equivalentTo"} xref: SCTID:92411005 {source="MONDO:equivalentTo"} xref: UMLS:C0153943 {source="MONDO:equivalentTo", source="NCIT:C3599"} is_a: EFO:0003897 {source="MONDO:Redundant", source="NCIT:C3599"} ! stomach neoplasm is_a: MONDO:0000385 {source="MONDO:Redundant", source="NCIT:C3599"} ! benign digestive system neoplasm property_value: exactMatch http://identifiers.org/snomedct/92411005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153943 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D13.1 property_value: exactMatch NCIT:C3599 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0021450 name: benign neoplasm of heart def: "A benign neoplasm that involves the heart." [MONDO:patterns/location] synonym: "benign Cardiac neoplasm" EXACT [NCIT:C3605] synonym: "benign Cardiac tumor" EXACT [NCIT:C3605] synonym: "benign Cardiac tumour" EXACT OMO:0003005 [] synonym: "benign heart neoplasm" EXACT [NCIT:C3605] synonym: "benign heart tumor" EXACT [NCIT:C3605] synonym: "benign heart tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the heart" EXACT [NCIT:C3605] synonym: "benign tumor of heart" EXACT [NCIT:C3605] synonym: "benign tumor of the heart" EXACT [NCIT:C3605] synonym: "benign tumour of heart" EXACT OMO:0003005 [] synonym: "benign tumour of the heart" EXACT OMO:0003005 [] synonym: "heart benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD10CM:D15.1 {source="MONDO:equivalentTo"} xref: ICD9:212.7 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3605 {source="MONDO:equivalentTo"} xref: SCTID:92132009 {source="MONDO:equivalentTo"} xref: UMLS:C0153957 {source="NCIT:C3605", source="MONDO:equivalentTo"} is_a: EFO:1001339 {source="MONDO:Redundant", source="NCIT:C3605"} ! Heart neoplasm is_a: MONDO:0000629 ! cardiovascular organ benign neoplasm is_a: MONDO:0000634 {source="MONDO:Redundant", source="NCIT:C3605"} ! thoracic benign neoplasm property_value: exactMatch http://identifiers.org/snomedct/92132009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153957 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D15.1 property_value: exactMatch NCIT:C3605 [Term] id: MONDO:0021452 name: benign neoplasm of cornea def: "A benign neoplasm that involves the cornea." [MONDO:patterns/location] synonym: "benign cornea neoplasm" EXACT [NCIT:C3623] synonym: "benign cornea tumor" EXACT [NCIT:C3623] synonym: "benign cornea tumour" EXACT OMO:0003005 [] synonym: "benign corneal neoplasm" EXACT [NCIT:C3623] synonym: "benign corneal tumor" EXACT [NCIT:C3623] synonym: "benign corneal tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the cornea" EXACT [NCIT:C3623] synonym: "benign tumor of cornea" EXACT [NCIT:C3623] synonym: "benign tumor of the cornea" EXACT [NCIT:C3623] synonym: "benign tumour of cornea" EXACT OMO:0003005 [] synonym: "benign tumour of the cornea" EXACT OMO:0003005 [] synonym: "cornea benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD9:224.4 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3623 {source="MONDO:equivalentTo"} xref: SCTID:92070006 {source="MONDO:equivalentTo"} xref: UMLS:C0154026 {source="MONDO:equivalentTo", source="NCIT:C3623"} is_a: MONDO:0021238 {source="MONDO:Redundant", source="NCIT:C3623"} ! cornea neoplasm is_a: MONDO:0021454 {source="MONDO:Redundant", source="NCIT:C3623"} ! benign neoplasm of eye property_value: exactMatch http://identifiers.org/snomedct/92070006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154026 property_value: exactMatch NCIT:C3623 [Term] id: MONDO:0021454 name: benign neoplasm of eye def: "A benign neoplasm that involves the eye." [MONDO:patterns/location] synonym: "benign eye neoplasm" EXACT [NCIT:C4780] synonym: "benign eye tumor" EXACT [NCIT:C4780] synonym: "benign eye tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the eye" EXACT [NCIT:C4780] synonym: "benign ocular neoplasm" EXACT [NCIT:C4780] synonym: "benign ocular tumor" EXACT [NCIT:C4780] synonym: "benign ocular tumour" EXACT OMO:0003005 [] synonym: "benign tumor of eye" EXACT [NCIT:C4780] synonym: "benign tumor of the eye" EXACT [NCIT:C4780] synonym: "benign tumour of eye" EXACT OMO:0003005 [] synonym: "benign tumour of the eye" EXACT OMO:0003005 [] synonym: "eye benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD9:224.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:224.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:224.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C4780 {source="MONDO:equivalentTo"} xref: SCTID:92097004 {source="MONDO:equivalentTo"} xref: UMLS:C0496897 {source="NCIT:C4780", source="MONDO:equivalentTo"} is_a: EFO:0003824 {source="MONDO:Redundant", source="NCIT:C4780"} ! eye neoplasm is_a: MONDO:0000633 ! sensory organ benign neoplasm property_value: exactMatch http://identifiers.org/snomedct/92097004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0496897 property_value: exactMatch NCIT:C4780 [Term] id: MONDO:0021460 name: benign neoplasm of salivary gland def: "A benign neoplasm that involves the saliva-secreting gland." [MONDO:patterns/location] synonym: "benign neoplasm of the salivary gland" EXACT [NCIT:C4600] synonym: "benign salivary gland neoplasm" EXACT [NCIT:C4600] synonym: "benign salivary gland tumor" EXACT [NCIT:C4600] synonym: "benign salivary gland tumour" EXACT OMO:0003005 [] synonym: "benign tumor of salivary gland" EXACT [NCIT:C4600] synonym: "benign tumor of the salivary gland" EXACT [NCIT:C4600] synonym: "benign tumour of salivary gland" EXACT OMO:0003005 [] synonym: "benign tumour of the salivary gland" EXACT OMO:0003005 [] synonym: "saliva-secreting gland benign neoplasm" EXACT [MONDO:patterns/location] synonym: "salivary gland neoplasm, benign" EXACT [NCIT:C4600] xref: NCIT:C4600 {source="MONDO:equivalentTo"} xref: SCTID:255154009 {source="MONDO:equivalentTo"} xref: UMLS:C0347206 {source="MONDO:equivalentTo", source="NCIT:C4600"} is_a: EFO:0002422 ! benign neoplasm is_a: EFO:1000384 {source="MONDO:Redundant", source="NCIT:C4600"} ! Mixed Tumor of the Salivary Gland property_value: exactMatch http://identifiers.org/snomedct/255154009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347206 property_value: exactMatch NCIT:C4600 [Term] id: MONDO:0021462 name: benign neoplasm of rectum def: "A benign neoplasm that involves the rectum." [MONDO:patterns/location] synonym: "benign neoplasm of the rectum" EXACT [NCIT:C4774] synonym: "benign rectal neoplasm" EXACT [NCIT:C4774] synonym: "benign rectal neoplasms" EXACT [NCIT:C4774] synonym: "benign rectal tumor" EXACT [NCIT:C4774] synonym: "benign rectal tumors" EXACT [NCIT:C4774] synonym: "benign rectal tumour" EXACT OMO:0003005 [] synonym: "benign rectal tumours" EXACT OMO:0003005 [] synonym: "benign tumor of rectum" EXACT [NCIT:C4774] synonym: "benign tumor of the rectum" EXACT [NCIT:C4774] synonym: "benign tumour of rectum" EXACT OMO:0003005 [] synonym: "benign tumour of the rectum" EXACT OMO:0003005 [] synonym: "rectal neoplasms, benign" EXACT [NCIT:C4774] synonym: "rectal tumors, benign" EXACT [NCIT:C4774] synonym: "rectum benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD10CM:D12.8 {source="MONDO:equivalentTo"} xref: NCIT:C4774 {source="MONDO:equivalentTo"} xref: SCTID:92318000 {source="MONDO:equivalentTo"} xref: UMLS:C0496867 {source="MONDO:equivalentTo", source="NCIT:C4774"} is_a: MONDO:0002165 {source="MONDO:Redundant", source="NCIT:C4774"} ! rectal neoplasm is_a: MONDO:0021444 {source="MONDO:Redundant", source="NCIT:C4774"} ! benign neoplasm of large intestine property_value: exactMatch http://identifiers.org/snomedct/92318000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0496867 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D12.8 property_value: exactMatch NCIT:C4774 [Term] id: MONDO:0021463 name: benign neoplasm of parathyroid gland def: "A benign neoplasm that involves the parathyroid gland." [MONDO:patterns/location] synonym: "benign neoplasm of parathyroid" EXACT [NCIT:C3630] synonym: "benign neoplasm of the parathyroid" EXACT [NCIT:C3630] synonym: "benign neoplasm of the parathyroid gland" EXACT [NCIT:C3630] synonym: "benign parathyroid gland neoplasm" EXACT [NCIT:C3630] synonym: "benign parathyroid gland tumor" EXACT [NCIT:C3630] synonym: "benign parathyroid gland tumour" EXACT OMO:0003005 [] synonym: "benign parathyroid neoplasm" EXACT [NCIT:C3630] synonym: "benign parathyroid tumor" EXACT [NCIT:C3630] synonym: "benign parathyroid tumour" EXACT OMO:0003005 [] synonym: "benign tumor of parathyroid" EXACT [NCIT:C3630] synonym: "benign tumor of parathyroid gland" EXACT [NCIT:C3630] synonym: "benign tumor of the parathyroid" EXACT [NCIT:C3630] synonym: "benign tumor of the parathyroid gland" EXACT [NCIT:C3630] synonym: "benign tumour of parathyroid" EXACT OMO:0003005 [] synonym: "benign tumour of parathyroid gland" EXACT OMO:0003005 [] synonym: "benign tumour of the parathyroid" EXACT OMO:0003005 [] synonym: "benign tumour of the parathyroid gland" EXACT OMO:0003005 [] synonym: "parathyroid gland benign neoplasm" EXACT [MONDO:patterns/location] synonym: "parathyroid tumor benign" EXACT [NCIT:C3630] synonym: "parathyroid tumour benign" EXACT OMO:0003005 [] xref: DOID:60008 {source="MONDO:equivalentTo"} xref: ICD10CM:D35.1 {source="MONDO:equivalentTo"} xref: ICD9:227.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3630 {source="MONDO:equivalentTo"} xref: SCTID:92272009 {source="MONDO:equivalentTo"} xref: UMLS:C0154041 {source="MONDO:equivalentTo", source="NCIT:C3630"} is_a: MONDO:0000627 {source="MONDO:Redundant"} ! benign endocrine neoplasm is_a: MONDO:0021360 {source="MONDO:Redundant", source="NCIT:C3630"} ! tumor of parathyroid gland property_value: exactMatch DOID:60008 property_value: exactMatch http://identifiers.org/snomedct/92272009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154041 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D35.1 property_value: exactMatch NCIT:C3630 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0021468 name: benign neoplasm of adrenal medulla def: "A benign neoplasm that involves the adrenal medulla." [MONDO:patterns/location] synonym: "adrenal medulla benign neoplasm" EXACT [MONDO:patterns/location] synonym: "benign adrenal medulla neoplasm" EXACT [NCIT:C4895] synonym: "benign adrenal medulla tumor" EXACT [NCIT:C4895] synonym: "benign adrenal medulla tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the adrenal medulla" EXACT [NCIT:C4895] synonym: "benign tumor of adrenal medulla" EXACT [NCIT:C4895] synonym: "benign tumor of the adrenal medulla" EXACT [NCIT:C4895] synonym: "benign tumour of adrenal medulla" EXACT OMO:0003005 [] synonym: "benign tumour of the adrenal medulla" EXACT OMO:0003005 [] xref: NCIT:C4895 {source="MONDO:equivalentTo"} xref: SCTID:91968002 {source="MONDO:equivalentTo"} xref: UMLS:C0686512 {source="MONDO:equivalentTo", source="NCIT:C4895"} is_a: MONDO:0021237 {source="MONDO:Redundant", source="NCIT:C4895"} ! adrenal medulla neoplasm is_a: MONDO:0021511 {source="MONDO:Redundant", source="NCIT:C4895"} ! benign neoplasm of adrenal gland property_value: exactMatch http://identifiers.org/snomedct/91968002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0686512 property_value: exactMatch NCIT:C4895 [Term] id: MONDO:0021469 name: benign neoplasm of anus def: "A benign neoplasm that involves the anus." [MONDO:patterns/location] synonym: "anus benign neoplasm" EXACT [MONDO:patterns/location] synonym: "benign anal neoplasm" EXACT [NCIT:C4611] synonym: "benign anal tumor" EXACT [NCIT:C4611] synonym: "benign anal tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the anus" EXACT [NCIT:C4611] synonym: "benign tumor of anus" EXACT [NCIT:C4611] synonym: "benign tumor of the anus" EXACT [NCIT:C4611] synonym: "benign tumour of anus" EXACT OMO:0003005 [] synonym: "benign tumour of the anus" EXACT OMO:0003005 [] xref: NCIT:C4611 {source="MONDO:equivalentTo"} xref: SCTID:91978004 {source="MONDO:equivalentTo"} xref: UMLS:C0347276 {source="MONDO:equivalentTo", source="NCIT:C4611"} is_a: EFO:0003835 {source="MONDO:Redundant", source="NCIT:C4611"} ! anal neoplasm is_a: MONDO:0021462 ! benign neoplasm of rectum property_value: exactMatch http://identifiers.org/snomedct/91978004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347276 property_value: exactMatch NCIT:C4611 [Term] id: MONDO:0021470 name: benign neoplasm of pancreas def: "A benign neoplasm that involves the pancreas." [MONDO:patterns/location] synonym: "benign neoplasm of the pancreas" EXACT [NCIT:C4612] synonym: "benign pancreas neoplasm" EXACT [NCIT:C4612] synonym: "benign pancreas tumor" EXACT [NCIT:C4612] synonym: "benign pancreas tumour" EXACT OMO:0003005 [] synonym: "benign pancreatic neoplasm" EXACT [NCIT:C4612] synonym: "benign pancreatic tumor" EXACT [NCIT:C4612] synonym: "benign pancreatic tumour" EXACT OMO:0003005 [] synonym: "benign tumor of pancreas" EXACT [NCIT:C4612] synonym: "benign tumor of the pancreas" EXACT [NCIT:C4612] synonym: "benign tumour of pancreas" EXACT OMO:0003005 [] synonym: "benign tumour of the pancreas" EXACT OMO:0003005 [] synonym: "pancreas benign neoplasm" EXACT [MONDO:patterns/location] synonym: "pancreas neoplasm, benign" EXACT [NCIT:C4612] synonym: "pancreas tumor, benign" EXACT [NCIT:C4612] synonym: "pancreatic neoplasm, benign" EXACT [NCIT:C4612] synonym: "pancreatic tumor, benign" EXACT [NCIT:C4612] xref: ICD10CM:D13.6 {source="MONDO:equivalentTo"} xref: NCIT:C4612 {source="MONDO:equivalentTo"} xref: SCTID:92264007 {source="MONDO:equivalentTo"} xref: UMLS:C0347284 {source="MONDO:equivalentTo", source="NCIT:C4612"} is_a: EFO:0003860 {source="MONDO:Redundant", source="NCIT:C4612"} ! pancreatic neoplasm is_a: MONDO:0000385 ! benign digestive system neoplasm property_value: exactMatch http://identifiers.org/snomedct/92264007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347284 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D13.6 property_value: exactMatch NCIT:C4612 [Term] id: MONDO:0021474 name: benign neoplasm of ear def: "A benign neoplasm that involves the ear." [MONDO:patterns/location] synonym: "aural neoplasms, benign" EXACT [NCIT:C8417] synonym: "benign Ear neoplasm" EXACT [NCIT:C8417] synonym: "benign Ear tumor" EXACT [NCIT:C8417] synonym: "benign Ear tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the Ear" EXACT [NCIT:C8417] synonym: "benign tumor of Ear" EXACT [NCIT:C8417] synonym: "benign tumor of the Ear" EXACT [NCIT:C8417] synonym: "benign tumour of Ear" EXACT OMO:0003005 [] synonym: "benign tumour of the Ear" EXACT OMO:0003005 [] synonym: "ear benign neoplasm" EXACT [MONDO:patterns/location] xref: NCIT:C8417 {source="MONDO:equivalentTo"} xref: SCTID:255181009 {source="MONDO:equivalentTo"} xref: UMLS:C0347354 {source="MONDO:equivalentTo", source="NCIT:C8417"} is_a: MONDO:0000633 ! sensory organ benign neoplasm is_a: MONDO:0021233 {source="MONDO:Redundant", source="NCIT:C8417"} ! ear neoplasm property_value: exactMatch http://identifiers.org/snomedct/255181009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347354 property_value: exactMatch NCIT:C8417 [Term] id: MONDO:0021476 name: benign neoplasm of tongue def: "A benign neoplasm that involves the tongue." [MONDO:patterns/location] synonym: "benign neoplasm of the tongue" EXACT [NCIT:C3592] synonym: "benign tongue neoplasm" EXACT [NCIT:C3592] synonym: "benign tongue tumor" EXACT [NCIT:C3592] synonym: "benign tongue tumour" EXACT OMO:0003005 [] synonym: "benign tumor of the tongue" EXACT [NCIT:C3592] synonym: "benign tumor of tongue" EXACT [NCIT:C3592] synonym: "benign tumour of the tongue" EXACT OMO:0003005 [] synonym: "benign tumour of tongue" EXACT OMO:0003005 [] synonym: "tongue benign neoplasm" EXACT [MONDO:patterns/location] synonym: "tongue neoplasm, benign" EXACT [NCIT:C3592] xref: ICD10CM:D10.1 {source="MONDO:equivalentTo"} xref: ICD9:210.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3592 {source="MONDO:equivalentTo"} xref: SCTID:92443005 {source="MONDO:equivalentTo"} xref: UMLS:C0153933 {source="NCIT:C3592", source="MONDO:equivalentTo"} is_a: EFO:0003871 {source="MONDO:Redundant", source="NCIT:C3592"} ! tongue neoplasm is_a: MONDO:0000633 ! sensory organ benign neoplasm property_value: exactMatch http://identifiers.org/snomedct/92443005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153933 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D10.1 property_value: exactMatch NCIT:C3592 [Term] id: MONDO:0021487 name: benign neoplasm of choroid def: "A benign neoplasm that involves the optic choroid." [MONDO:patterns/location] synonym: "benign choroid neoplasm" EXACT [NCIT:C3625] synonym: "benign choroid tumor" EXACT [NCIT:C3625] synonym: "benign choroid tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the choroid" EXACT [NCIT:C3625] synonym: "benign tumor of choroid" EXACT [NCIT:C3625] synonym: "benign tumor of the choroid" EXACT [NCIT:C3625] synonym: "benign tumour of choroid" EXACT OMO:0003005 [] synonym: "benign tumour of the choroid" EXACT OMO:0003005 [] synonym: "optic choroid benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD9:224.6 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3625 {source="MONDO:equivalentTo"} xref: SCTID:92059004 {source="MONDO:equivalentTo"} xref: UMLS:C0154028 {source="MONDO:equivalentTo", source="NCIT:C3625"} is_a: MONDO:0000629 ! cardiovascular organ benign neoplasm is_a: MONDO:0021258 {source="MONDO:Redundant", source="NCIT:C3625"} ! choroid neoplasm is_a: MONDO:0021454 {source="MONDO:Redundant", source="NCIT:C3625/inferred"} ! benign neoplasm of eye is_a: MONDO:0043218 ! neurovascular disorder property_value: exactMatch http://identifiers.org/snomedct/92059004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154028 property_value: exactMatch NCIT:C3625 [Term] id: MONDO:0021489 name: benign neoplasm of sweat gland def: "A benign neoplasm that involves the sweat gland." [MONDO:patterns/location] synonym: "benign neoplasm of the sweat gland" EXACT [NCIT:C4879] synonym: "benign sweat gland neoplasm" EXACT [NCIT:C4879] synonym: "benign sweat gland tumor" EXACT [NCIT:C4879] synonym: "benign sweat gland tumour" EXACT OMO:0003005 [] synonym: "benign tumor of sweat gland" EXACT [NCIT:C4879] synonym: "benign tumor of the sweat gland" EXACT [NCIT:C4879] synonym: "benign tumour of sweat gland" EXACT OMO:0003005 [] synonym: "benign tumour of the sweat gland" EXACT OMO:0003005 [] synonym: "sweat gland benign neoplasm" EXACT [MONDO:patterns/location] synonym: "sweat gland neoplasm, benign" EXACT [NCIT:C4879] xref: NCIT:C4879 {source="MONDO:equivalentTo"} xref: SCTID:92422009 {source="MONDO:equivalentTo"} xref: UMLS:C0684354 {source="MONDO:equivalentTo", source="NCIT:C4879"} is_a: EFO:1001204 {source="MONDO:Redundant", source="NCIT:C4879"} ! sweat gland neoplasm is_a: MONDO:0021440 {source="MONDO:Redundant", source="NCIT:C4879/inferred"} ! benign neoplasm of skin property_value: exactMatch http://identifiers.org/snomedct/92422009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0684354 property_value: exactMatch NCIT:C4879 [Term] id: MONDO:0021496 name: benign neoplasm of lip def: "A benign neoplasm that involves the lip." [MONDO:patterns/location] synonym: "benign Lip neoplasm" EXACT [NCIT:C3591] synonym: "benign Lip tumor" EXACT [NCIT:C3591] synonym: "benign Lip tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the Lip" EXACT [NCIT:C3591] synonym: "benign tumor of Lip" EXACT [NCIT:C3591] synonym: "benign tumor of the Lip" EXACT [NCIT:C3591] synonym: "benign tumour of Lip" EXACT OMO:0003005 [] synonym: "benign tumour of the Lip" EXACT OMO:0003005 [] synonym: "lip benign neoplasm" EXACT [MONDO:patterns/location] synonym: "lip neoplasm, benign" EXACT [NCIT:C3591] xref: ICD10CM:D10.0 {source="MONDO:equivalentTo"} xref: ICD9:210.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3591 {source="MONDO:equivalentTo"} xref: SCTID:92185002 {source="MONDO:equivalentTo"} xref: UMLS:C0153932 {source="NCIT:C3591", source="MONDO:equivalentTo"} is_a: EFO:0002422 ! benign neoplasm is_a: MONDO:0021249 {source="MONDO:Redundant", source="NCIT:C3591"} ! lip neoplasm property_value: exactMatch http://identifiers.org/snomedct/92185002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153932 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D10.0 property_value: exactMatch NCIT:C3591 [Term] id: MONDO:0021499 name: benign neoplasm of cerebellum def: "A benign neoplasm that involves the cerebellum." [MONDO:patterns/location] synonym: "benign cerebellar neoplasm" EXACT [NCIT:C4955] synonym: "benign cerebellar neoplasms" EXACT [NCIT:C4955] synonym: "benign cerebellar tumor" EXACT [NCIT:C4955] synonym: "benign cerebellar tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the cerebellum" EXACT [NCIT:C4955] synonym: "benign tumor of cerebellum" EXACT [NCIT:C4955] synonym: "benign tumor of the cerebellum" EXACT [NCIT:C4955] synonym: "benign tumour of cerebellum" EXACT OMO:0003005 [] synonym: "benign tumour of the cerebellum" EXACT OMO:0003005 [] synonym: "cerebellar neoplasms, benign" EXACT [NCIT:C4955] synonym: "cerebellum benign neoplasm" EXACT [MONDO:patterns/location] synonym: "neoplasms, benign, cerebellar" EXACT [NCIT:C4955] synonym: "neoplasms, cerebellar, benign" EXACT [NCIT:C4955] xref: NCIT:C4955 {source="MONDO:equivalentTo"} xref: SCTID:92050000 {source="MONDO:equivalentTo"} is_a: EFO:1000107 {source="MONDO:Redundant", source="NCIT:C4955/inferred"} ! Benign Brain Neoplasm is_a: MONDO:0002913 {source="MONDO:Redundant", source="NCIT:C4955"} ! cerebellar neoplasm property_value: exactMatch http://identifiers.org/snomedct/92050000 property_value: exactMatch NCIT:C4955 [Term] id: MONDO:0021501 name: benign neoplasm of small intestine def: "A benign neoplasm that involves the small intestine." [MONDO:patterns/location] synonym: "benign neoplasm of the small intestine" EXACT [NCIT:C3600] synonym: "benign small intestinal neoplasm" EXACT [NCIT:C3600] synonym: "benign small intestinal tumor" EXACT [NCIT:C3600] synonym: "benign small intestinal tumour" EXACT OMO:0003005 [] synonym: "benign small intestine neoplasm" EXACT [NCIT:C3600] synonym: "benign small intestine tumor" EXACT [NCIT:C3600] synonym: "benign small intestine tumour" EXACT OMO:0003005 [] synonym: "benign tumor of small intestine" EXACT [NCIT:C3600] synonym: "benign tumor of the small intestine" EXACT [NCIT:C3600] synonym: "benign tumour of small intestine" EXACT OMO:0003005 [] synonym: "benign tumour of the small intestine" EXACT OMO:0003005 [] synonym: "small intestine benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD9:211.2 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3600 {source="MONDO:equivalentTo"} xref: SCTID:92385005 {source="MONDO:equivalentTo"} xref: UMLS:C0153944 {source="MONDO:equivalentTo", source="NCIT:C3600"} is_a: MONDO:0003062 {source="MONDO:Redundant", source="NCIT:C3600"} ! intestinal benign neoplasm is_a: MONDO:0004251 {source="MONDO:Redundant", source="NCIT:C3600"} ! small intestine neoplasm property_value: exactMatch http://identifiers.org/snomedct/92385005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153944 property_value: exactMatch NCIT:C3600 [Term] id: MONDO:0021506 name: benign neoplasm of spinal cord def: "A benign neoplasm that involves the spinal cord." [MONDO:patterns/location] synonym: "benign neoplasm of the spinal cord" EXACT [NCIT:C3627] synonym: "benign spinal cord neoplasm" EXACT [NCIT:C3627] synonym: "benign spinal cord tumor" EXACT [NCIT:C3627] synonym: "benign spinal cord tumour" EXACT OMO:0003005 [] synonym: "benign tumor of spinal cord" EXACT [NCIT:C3627] synonym: "benign tumor of the spinal cord" EXACT [NCIT:C3627] synonym: "benign tumour of spinal cord" EXACT OMO:0003005 [] synonym: "benign tumour of the spinal cord" EXACT OMO:0003005 [] synonym: "spinal cord benign neoplasm" EXACT [MONDO:patterns/location] synonym: "spinal cord neoplasm, benign" EXACT [NCIT:C3627] xref: ICD10CM:D33.4 {source="MONDO:equivalentTo"} xref: ICD9:225.3 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3627 {source="MONDO:equivalentTo"} xref: SCTID:92405007 {source="MONDO:equivalentTo"} xref: UMLS:C0154034 {source="NCIT:C3627", source="MONDO:equivalentTo"} is_a: EFO:0003828 {source="MONDO:Redundant", source="NCIT:C3627"} ! spinal cord neoplasm is_a: MONDO:0000628 ! central nervous system organ benign neoplasm property_value: exactMatch http://identifiers.org/snomedct/92405007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154034 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D33.4 property_value: exactMatch NCIT:C3627 [Term] id: MONDO:0021510 name: benign neoplasm of prostate def: "A benign neoplasm that involves the prostate gland." [MONDO:patterns/location] synonym: "benign neoplasm of the prostate" EXACT [NCIT:C3613] synonym: "benign prostate neoplasm" EXACT [NCIT:C3613] synonym: "benign prostate tumor" EXACT [NCIT:C3613] synonym: "benign prostate tumour" EXACT OMO:0003005 [] synonym: "benign prostatic neoplasm" EXACT [NCIT:C3613] synonym: "benign tumor of prostate" EXACT [NCIT:C3613] synonym: "benign tumor of the prostate" EXACT [NCIT:C3613] synonym: "benign tumour of prostate" EXACT OMO:0003005 [] synonym: "benign tumour of the prostate" EXACT OMO:0003005 [] synonym: "prostate gland benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD10CM:D29.1 {source="MONDO:equivalentTo"} xref: ICD9:222.2 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3613 {source="MONDO:equivalentTo"} xref: SCTID:92308005 {source="MONDO:equivalentTo"} xref: UMLS:C0154009 {source="MONDO:equivalentTo", source="NCIT:C3613"} is_a: MONDO:0000625 ! benign male reproductive system neoplasm is_a: MONDO:0021259 {source="MONDO:Redundant", source="NCIT:C3613"} ! prostate neoplasm property_value: exactMatch http://identifiers.org/snomedct/92308005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154009 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D29.1 property_value: exactMatch NCIT:C3613 [Term] id: MONDO:0021511 name: benign neoplasm of adrenal gland def: "A benign neoplasm that involves the adrenal gland." [MONDO:patterns/location] synonym: "adrenal gland benign neoplasm" EXACT [MONDO:patterns/location] synonym: "benign adrenal gland neoplasm" EXACT [NCIT:C3629] synonym: "benign adrenal gland tumor" EXACT [NCIT:C3629] synonym: "benign adrenal gland tumour" EXACT OMO:0003005 [] synonym: "benign adrenal neoplasm" EXACT [NCIT:C3629] synonym: "benign adrenal tumor" EXACT [NCIT:C3629] synonym: "benign adrenal tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the adrenal gland" EXACT [NCIT:C3629] synonym: "benign tumor of adrenal gland" EXACT [NCIT:C3629] synonym: "benign tumor of the adrenal gland" EXACT [NCIT:C3629] synonym: "benign tumour of adrenal gland" EXACT OMO:0003005 [] synonym: "benign tumour of the adrenal gland" EXACT OMO:0003005 [] xref: ICD9:227.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3629 {source="MONDO:equivalentTo"} xref: SCTID:91967007 {source="MONDO:equivalentTo"} xref: UMLS:C0154040 {source="NCIT:C3629", source="MONDO:equivalentTo"} is_a: EFO:0003850 {source="MONDO:Redundant", source="NCIT:C3629"} ! adrenal gland neoplasm is_a: MONDO:0000627 {source="MONDO:Redundant"} ! benign endocrine neoplasm property_value: exactMatch http://identifiers.org/snomedct/91967007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154040 property_value: exactMatch NCIT:C3629 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0021525 name: benign neoplasm of corpus uteri def: "A benign neoplasm that involves the body of uterus." [MONDO:patterns/location] synonym: "benign corpus uteri neoplasm" EXACT [NCIT:C3608] synonym: "benign corpus uteri tumor" EXACT [NCIT:C3608] synonym: "benign corpus uteri tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of body of uterus" EXACT [NCIT:C3608] synonym: "benign neoplasm of the body of uterus" EXACT [NCIT:C3608] synonym: "benign neoplasm of the corpus uteri" EXACT [NCIT:C3608] synonym: "benign neoplasm of the uterine body" EXACT [NCIT:C3608] synonym: "benign neoplasm of the uterine corpus" EXACT [NCIT:C3608] synonym: "benign neoplasm of uterine body" EXACT [NCIT:C3608] synonym: "benign neoplasm of uterine corpus" EXACT [NCIT:C3608] synonym: "benign tumor of body of uterus" EXACT [NCIT:C3608] synonym: "benign tumor of corpus uteri" EXACT [NCIT:C3608] synonym: "benign tumor of the body of uterus" EXACT [NCIT:C3608] synonym: "benign tumor of the corpus uteri" EXACT [NCIT:C3608] synonym: "benign tumor of the uterine body" EXACT [NCIT:C3608] synonym: "benign tumor of the uterine corpus" EXACT [NCIT:C3608] synonym: "benign tumor of uterine body" EXACT [NCIT:C3608] synonym: "benign tumor of uterine corpus" EXACT [NCIT:C3608] synonym: "benign tumour of body of uterus" EXACT OMO:0003005 [] synonym: "benign tumour of corpus uteri" EXACT OMO:0003005 [] synonym: "benign tumour of the body of uterus" EXACT OMO:0003005 [] synonym: "benign tumour of the corpus uteri" EXACT OMO:0003005 [] synonym: "benign tumour of the uterine body" EXACT OMO:0003005 [] synonym: "benign tumour of the uterine corpus" EXACT OMO:0003005 [] synonym: "benign tumour of uterine body" EXACT OMO:0003005 [] synonym: "benign tumour of uterine corpus" EXACT OMO:0003005 [] synonym: "benign uterine body neoplasm" EXACT [NCIT:C3608] synonym: "benign uterine body tumor" EXACT [NCIT:C3608] synonym: "benign uterine body tumour" EXACT OMO:0003005 [] synonym: "benign uterine corpus neoplasm" EXACT [NCIT:C3608] synonym: "benign uterine corpus tumor" EXACT [NCIT:C3608] synonym: "benign uterine corpus tumour" EXACT OMO:0003005 [] synonym: "body of uterus benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD9:219.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3608 {source="MONDO:equivalentTo"} xref: SCTID:92021007 {source="MONDO:equivalentTo"} xref: UMLS:C0153998 {source="NCIT:C3608", source="MONDO:equivalentTo"} is_a: MONDO:0000632 {source="MONDO:Redundant", source="NCIT:C3608"} ! uterine benign neoplasm is_a: MONDO:0021254 {source="MONDO:Redundant", source="NCIT:C3608"} ! corpus uteri neoplasm property_value: exactMatch http://identifiers.org/snomedct/92021007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153998 property_value: exactMatch NCIT:C3608 [Term] id: MONDO:0021533 name: intestinal neuroendocrine tumor G1 def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small or large intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:C4637] synonym: "carcinoid tumor of intestine" EXACT [NCIT:C4637] synonym: "carcinoid tumor of the intestine" EXACT [NCIT:C4637] synonym: "carcinoid tumour of intestine" EXACT OMO:0003005 [] synonym: "carcinoid tumour of the intestine" EXACT OMO:0003005 [] synonym: "grade 1 neuroendocrine neoplasm of intestine" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "intestinal carcinoid tumor" EXACT [NCIT:C4637] synonym: "intestinal carcinoid tumour" EXACT OMO:0003005 [] synonym: "intestinal NET G1" EXACT [NCIT:C4637] synonym: "intestinal neuroendocrine tumor G1" EXACT [NCIT:C4637] synonym: "intestine carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1, NCIT:C4637] synonym: "intestine carcinoid tumor (disease)" EXACT [MONDO:patterns/location] synonym: "intestine carcinoid tumour" EXACT OMO:0003005 [] synonym: "intestine carcinoid tumour (disease)" EXACT OMO:0003005 [] synonym: "intestine NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "intestine neuroendocrine neoplasm G1" EXACT [] synonym: "intestine neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] xref: MESH:C562842 {source="MONDO:equivalentTo"} xref: NCIT:C4637 {source="MONDO:equivalentTo"} xref: OMIM:114900 {source="MONDO:equivalentTo"} xref: SCTID:276816003 {source="MONDO:equivalentTo"} xref: UMLS:C0349535 {source="MONDO:equivalentTo", source="MONDO:notFoundInDiseaseSubset", source="OMIM:114900", source="NCIT:C4637"} is_a: EFO:0004243 {source="NCIT:C4637/inferred"} ! carcinoid tumor is_a: MONDO:0000386 ! digestive system neuroendocrine tumor, grade 1/2 is_a: MONDO:0002883 {source="MONDO:Redundant", source="NCIT:C4637/inferred"} ! intestinal neuroendocrine neoplasm relationship: has_characteristic MONDO:0024491 ! tumor grade 1, general grading system property_value: exactMatch http://identifiers.org/mesh/C562842 property_value: exactMatch http://identifiers.org/snomedct/276816003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349535 property_value: exactMatch https://omim.org/entry/114900 property_value: exactMatch NCIT:C4637 property_value: excluded_subClassOf MONDO:0003847 {source="OMIM:114900"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4207 xsd:anyURI [Term] id: MONDO:0021539 name: hamartoma of skin appendage def: "A hamartoma (disease) that involves the cutaneous appendage." [MONDO:patterns/location] synonym: "cutaneous appendage hamartoma (disease)" EXACT [MONDO:patterns/location] synonym: "skin appendage hamartoma" EXACT [NCIT:C5562] xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C5562 {source="MONDO:equivalentTo"} xref: SCTID:399906000 {source="MONDO:equivalentTo"} xref: UMLS:C1302712 {source="NCIT:C5562", source="MONDO:equivalentTo"} is_a: EFO:1000634 {source="MONDO:Redundant", source="NCIT:C5562"} ! hamartoma is_a: MONDO:0002297 ! epidermal appendage tumor property_value: exactMatch http://identifiers.org/snomedct/399906000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1302712 property_value: exactMatch NCIT:C5562 [Term] id: MONDO:0021545 name: myomatous neoplasm def: "A benign or malignant mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle." [NCIT:C4063] synonym: "muscle neoplasm" EXACT [NCIT:C4063] synonym: "muscle tissue neoplasm" RELATED [MESH:D009379] synonym: "muscle tissue neoplasms" RELATED [MESH:D009379] synonym: "muscle tumor" EXACT [NCIT:C4063] synonym: "muscle tumour" EXACT OMO:0003005 [] synonym: "myoblastoma" RELATED [MESH:D009379] synonym: "myoblastomas" RELATED [MESH:D009379] synonym: "myofibroblastoma" RELATED [MESH:D009379] synonym: "myofibroblastomas" RELATED [MESH:D009379] synonym: "myomatous neoplasm" EXACT [NCIT:C4063] synonym: "myomatous tumor" EXACT [NCIT:C4063] synonym: "myomatous tumour" EXACT OMO:0003005 [] synonym: "neoplasm of muscle" EXACT [NCIT:C4063] synonym: "neoplasm of the muscle" EXACT [NCIT:C4063] synonym: "neoplasm, muscle tissue" RELATED [MESH:D009379] synonym: "tumor of muscle" EXACT [NCIT:C4063] synonym: "tumor of the muscle" EXACT [NCIT:C4063] synonym: "tumour of muscle" EXACT OMO:0003005 [] synonym: "tumour of the muscle" EXACT OMO:0003005 [] xref: MESH:D009379 {source="MONDO:equivalentTo"} xref: MESH:D019042 {source="MONDO:equivalentTo"} xref: NCIT:C4063 {source="MONDO:equivalentTo"} is_a: MONDO:0002616 {source="NCIT:C4063"} ! mesenchymal cell neoplasm is_a: MONDO:0003939 ! muscle tissue disorder property_value: exactMatch http://identifiers.org/mesh/D009379 property_value: exactMatch http://identifiers.org/mesh/D019042 property_value: exactMatch NCIT:C4063 [Term] id: MONDO:0021546 name: ependymal tumor of spinal cord def: "An ependymal tumor that arises from the spinal cord." [NCIT:C131526] synonym: "ependymal tumor of spinal cord" EXACT [NCIT:C131526] synonym: "spinal cord ependymal tumor" EXACT [MONDO:patterns/location] synonym: "spinal cord ependymal tumour" EXACT OMO:0003005 [] xref: NCIT:C131526 {source="MONDO:equivalentTo"} xref: UMLS:C4318747 {source="MONDO:equivalentTo"} is_a: EFO:1000027 {source="MONDO:Redundant", source="NCIT:C131526"} ! ependymal neoplasm is_a: MONDO:0002542 {source="NCIT:C131526"} ! spinal cord glioma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4318747 property_value: exactMatch NCIT:C131526 [Term] id: MONDO:0021548 name: total early-onset cataract subset: ordo_clinical_subtype {source="Orphanet:98994"} synonym: "cataract, total congenital" RELATED [GARD:0001159] synonym: "cataract, total congenital with posterior sutural opacities in heterozygotes" RELATED [GARD:0001159] synonym: "CCT" RELATED ABBREVIATION [GARD:0001159] xref: Orphanet:98994 {source="MONDO:equivalentTo"} is_a: MONDO:0011060 {source="Orphanet:98994"} ! early-onset non-syndromic cataract property_value: exactMatch Orphanet:98994 [Term] id: MONDO:0021553 name: transverse myelitis subset: gard_rare synonym: "Myelitis, Transverse" RELATED [MESH:D009188] synonym: "Transverse Myelitis" RELATED [MESH:D009188] synonym: "Transverse myelitis" RELATED [UMLS:C0026976] synonym: "transverse myelitis" EXACT [] synonym: "Transverse Myelopathy Syndrome" RELATED [MESH:D009188] synonym: "Transverse myelopathy syndrome" RELATED [UMLS:C0026976] synonym: "transverse myelopathy syndrome" EXACT [] synonym: "Transverse Myelopathy Syndromes" RELATED [MESH:D009188] xref: DOID:0080743 {source="MONDO:equivalentTo"} xref: ICD9:323.9 xref: MedDRA:10028527 xref: SCTID:16631009 {source="MONDO:equivalentTo", source="UMLS:C0026976"} xref: UMLS:C0026976 {source="MONDO:equivalentTo", source="GARD:0007796"} is_a: EFO:1001472 {source="https://orcid.org/0000-0001-5208-3432"} ! Myelitis relationship: has_characteristic MONDO:0021136 {source="GARD:0007796"} ! rare property_value: exactMatch DOID:0080743 property_value: exactMatch http://identifiers.org/snomedct/16631009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026976 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4614 xsd:anyURI [Term] id: MONDO:0021569 name: Emery-Dreifuss muscular dystrophy 2, autosomal dominant def: "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." [NCIT:C126745] subset: gard_rare subset: ordo_disease {source="Orphanet:264"} synonym: "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA" EXACT [MONDO:design_pattern] synonym: "autosomal dominant limb-girdle muscular dystrophy type 1B" EXACT [OMIM:159001] synonym: "benign scapuloperoneal muscular dystrophy with cardiomyopathy" RELATED [PMID:12376891] synonym: "EDMD2" EXACT ABBREVIATION [OMIM:181350] synonym: "EMD2" RELATED ABBREVIATION [OMIM:181350] synonym: "Emery-Dreifuss muscular dystrophy 2, autosomal dominant" EXACT [MONDO:Lexical, OMIM:181350] synonym: "Emery-Dreifuss muscular dystrophy, autosomal dominant" RELATED [OMIM:181350] synonym: "Hauptmann-Thannhauser muscular dystrophy" EXACT [OMIM:181350] synonym: "LGMD1B" EXACT ABBREVIATION [DOID:0110301, GARD:0010230, MONDO:Lexical, OMIM:159001, Orphanet:264] synonym: "limb-girdle muscular dystrophy due to lamin A/C deficiency" EXACT [DOID:0110301, Orphanet:264] synonym: "limb-girdle muscular dystrophy type 1B" RELATED [GARD:0010230] synonym: "LMNA autosomal dominant limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant" RELATED [OMIM:181350] synonym: "muscular dystrophy, limb-girdle type 1B" EXACT [DOID:0110301] synonym: "muscular dystrophy, limb-girdle, type 1B" RELATED [MONDO:Lexical, OMIM:159001] synonym: "muscular dystrophy, proximal, type 1B" RELATED [GARD:0010230, OMIM:159001] synonym: "proximal muscular dystrophy type 1B" EXACT [DOID:0110301] synonym: "scapuloilioperoneal atrophy with cardiopathy" RELATED [OMIM:181350] xref: DOID:0070247 {source="MONDO:equivalentTo"} xref: DOID:0110301 {source="MONDO:equivalentObsolete"} xref: ICD9:425.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535898 {source="MONDO:equivalentTo"} xref: NCIT:C126745 {source="MONDO:equivalentTo"} xref: OMIM:159001 {source="GARD:0010230", source="Orphanet:264/e", source="MONDO:equivalentObsolete", source="Orphanet:264", source="DOID:0110301"} xref: OMIM:181350 {source="MONDO:equivalentTo"} xref: Orphanet:264 {source="GARD:0010230", source="OMIM:159001", source="MONDO:equivalentObsolete", source="DOID:0110301"} xref: Orphanet:98853 {source="OMIM:181350", source="MONDO:directSiblingOf"} xref: SCTID:240072005 {source="MONDO:equivalentTo"} xref: SCTID:718178006 {source="MONDO:equivalentTo"} xref: UMLS:C0410190 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C126745", source="OMIM:181350"} xref: UMLS:C1834653 {source="GARD:0010230", source="OMIM:159001", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:264"} xref: UMLS:C2750035 {source="OMIM:181350", source="MONDO:directSiblingOf"} is_a: MONDO:0015151 {source="DOID:0110301", source="MONDO:Redundant", source="OMIM:159001", source="Orphanet:264"} ! muscular dystrophy, limb-girdle, autosomal dominant is_a: MONDO:0020336 ! autosomal dominant Emery-Dreifuss muscular dystrophy relationship: disease_shares_features_of MONDO:0010680 {source="PMID:12376891"} ! X-linked Emery-Dreifuss muscular dystrophy property_value: exactMatch DOID:0070247 property_value: exactMatch http://identifiers.org/mesh/C535898 property_value: exactMatch http://identifiers.org/snomedct/240072005 property_value: exactMatch http://identifiers.org/snomedct/718178006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0410190 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834653 property_value: exactMatch https://omim.org/entry/181350 property_value: exactMatch NCIT:C126745 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10230/limb-girdle-muscular-dystrophy-type-1b xsd:anyURI {source="GARD:0010230"} [Term] id: MONDO:0021580 name: neoplasm of jaw def: "A neoplasm (disease) that involves the jaw skeleton." [MONDO:patterns/location] synonym: "jaw skeleton neoplasm" EXACT [] synonym: "jaw skeleton neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "jaw skeleton tumor" EXACT [MONDO:patterns/neoplasm] synonym: "jaw skeleton tumour" EXACT OMO:0003005 [] synonym: "neoplasm of jaw skeleton" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of jaw skeleton" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of jaw skeleton" EXACT OMO:0003005 [] xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:126634001 {source="MONDO:equivalentTo"} is_a: EFO:0008549 ! digestive system neoplasm is_a: EFO:1001047 ! mouth disease is_a: MONDO:0023369 ! disorder of facial skeleton is_a: MONDO:0024653 ! skull neoplasm property_value: exactMatch http://identifiers.org/snomedct/126634001 [Term] id: MONDO:0021581 name: connective tissue neoplasm def: "Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue." [MESH:D009372] synonym: "connective tissue neoplasm" EXACT [MESH:D009372] synonym: "connective tissue neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "connective tissue neoplasms" RELATED [MESH:D009372] synonym: "connective tissue tumor" EXACT [MONDO:patterns/neoplasm] synonym: "connective tissue tumour" EXACT OMO:0003005 [] synonym: "neoplasm of connective tissue" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of connective tissues" EXACT [DOID:201] synonym: "neoplasm, connective tissue" RELATED [MESH:D009372] synonym: "tumor of connective tissue" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/neoplasm] synonym: "tumour of connective tissue" EXACT OMO:0003005 [] xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D009372 {source="MONDO:equivalentTo"} xref: SCTID:126598008 {source="MONDO:equivalentTo"} xref: UMLS:C0027656 {source="MONDO:equivalentTo"} is_a: EFO:0000616 {source="MESH:D009372/inferred", source="MONDO:Redundant"} ! neoplasm is_a: EFO:1001986 {source="MESH:D009372", source="MONDO:Redundant"} ! connective tissue disease property_value: exactMatch http://identifiers.org/mesh/D009372 property_value: exactMatch http://identifiers.org/snomedct/126598008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027656 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0021582 name: lentigo def: "A flat, benign, pigmented spot on the skin caused by excessive deposition of melanin from an increased number of melanocytes in the cell layer directly above the basement membrane of the epidermis. Formation is usually related to sun exposure during youth, and the lesions do not typically progress to malignancy." [NCIT:C3159] comment: Excluded benign neoplasm as a subclass because NCIT classifies as non-neoplastic. synonym: "lentigines" EXACT [OMIM:150900] synonym: "lentiginosis" EXACT [NCIT:C3159] synonym: "lentigo" EXACT [NCIT:C3159] xref: MESH:D007911 {source="MONDO:equivalentTo"} xref: NCIT:C3159 {source="MONDO:equivalentTo"} xref: OMIM:150900 {source="MONDO:equivalentTo"} xref: SCTID:402624000 {source="MONDO:equivalentTo"} is_a: MONDO:0100118 ! hereditary skin disorder property_value: exactMatch http://identifiers.org/mesh/D007911 property_value: exactMatch http://identifiers.org/snomedct/402624000 property_value: exactMatch https://omim.org/entry/150900 property_value: exactMatch NCIT:C3159 property_value: excluded_subClassOf MONDO:0005165 {source="MONDO:Redundant", source="Wikipedia:Lentiginosis"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3692 xsd:anyURI [Term] id: MONDO:0021583 name: melanocytic skin neoplasm def: "A melanocytic neoplasm that involves the zone of skin." [MONDO:patterns/location] synonym: "cutaneous melanocytic neoplasm" EXACT [NCIT:C7161] synonym: "melanocytic neoplasm of skin" EXACT [NCIT:C7161] synonym: "melanocytic neoplasm of zone of skin" EXACT [MONDO:design_pattern] synonym: "melanocytic skin neoplasm" EXACT [NCIT:C7161] synonym: "zone of skin melanocytic neoplasm" EXACT [MONDO:patterns/location] xref: NCIT:C7161 {source="MONDO:equivalentTo"} xref: UMLS:C0349501 {source="MONDO:equivalentTo", source="NCIT:C7161"} is_a: EFO:0004198 {source="MONDO:Redundant", source="NCIT:C7161"} ! skin neoplasm is_a: MONDO:0021143 {source="MONDO:Redundant", source="NCIT:C7161"} ! melanocytic neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349501 property_value: exactMatch NCIT:C7161 [Term] id: MONDO:0021605 name: benign eyelid neoplasm def: "A non-metastasizing neoplasm that arises from the upper or lower eyelid." [NCIT:C4354] synonym: "benign eyelid neoplasm" EXACT [NCIT:C4354] synonym: "benign eyelid tumor" EXACT [NCIT:C4354] synonym: "benign eyelid tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of eyelid" EXACT [NCIT:C4354] synonym: "benign neoplasm of the eyelid" EXACT [NCIT:C4354] synonym: "benign tumor of eyelid" EXACT [NCIT:C4354] synonym: "benign tumor of the eyelid" EXACT [NCIT:C4354] synonym: "benign tumour of eyelid" EXACT OMO:0003005 [] synonym: "benign tumour of the eyelid" EXACT OMO:0003005 [] synonym: "eyelid benign neoplasm" EXACT [MONDO:patterns/location] xref: NCIT:C4354 {source="MONDO:equivalentTo"} xref: SCTID:231824001 {source="MONDO:equivalentTo"} xref: UMLS:C0339107 {source="MONDO:equivalentTo", source="NCIT:C4354"} is_a: EFO:1000934 {source="MONDO:Redundant", source="NCIT:C4354"} ! eyelid neoplasm is_a: MONDO:0021440 ! benign neoplasm of skin is_a: MONDO:0021454 {source="MONDO:Redundant", source="NCIT:C4354"} ! benign neoplasm of eye property_value: exactMatch http://identifiers.org/snomedct/231824001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339107 property_value: exactMatch NCIT:C4354 [Term] id: MONDO:0021629 name: uterine ligament neoplasm def: "A benign, borderline, or malignant neoplasm that affects the uterine ligaments. Representative examples include Wolffian adnexal tumor, papillary cystadenoma, and adenocarcinoma." [NCIT:C40133] synonym: "neoplasm of the uterine ligament" EXACT [NCIT:C40133] synonym: "neoplasm of uterine ligament" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the uterine ligament" EXACT [NCIT:C40133] synonym: "tumor of uterine ligament" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of the uterine ligament" EXACT OMO:0003005 [] synonym: "tumour of uterine ligament" EXACT OMO:0003005 [] synonym: "uterine ligament neoplasm" EXACT [NCIT:C40133] synonym: "uterine ligament neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "uterine ligament tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C40133] synonym: "uterine ligament tumour" EXACT OMO:0003005 [] xref: NCIT:C40133 {source="MONDO:equivalentTo"} xref: UMLS:C1519870 {source="MONDO:equivalentTo", source="NCIT:C40133"} is_a: MONDO:0021230 ! uterine cervix neoplasm is_a: MONDO:0045044 ! ligament disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519870 property_value: exactMatch NCIT:C40133 [Term] id: MONDO:0021631 name: brain astrocytoma def: "A astrocytoma (excluding glioblastoma) that involves the brain." [MONDO:patterns/location] synonym: "astrocytoma (excluding glioblastoma) of brain" EXACT [MONDO:design_pattern] synonym: "brain astrocytoma" EXACT [NCIT:C60780] synonym: "brain astrocytoma (excluding glioblastoma)" EXACT [MONDO:patterns/location] xref: NCIT:C60780 {source="MONDO:equivalentTo"} xref: SCTID:254938000 {source="MONDO:equivalentTo"} xref: UMLS:C3695127 {source="MONDO:equivalentTo", source="NCIT:C60780"} is_a: EFO:0000272 {source="MONDO:Redundant", source="NCIT:C60780"} ! astrocytoma is_a: MONDO:0021632 {source="NCIT:C60780"} ! primary brain neoplasm property_value: exactMatch http://identifiers.org/snomedct/254938000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3695127 property_value: exactMatch NCIT:C60780 [Term] id: MONDO:0021632 name: primary brain neoplasm synonym: "primary brain neoplasm" EXACT [NCIT:C4952] synonym: "primary brain tumor" EXACT [NCIT:C4952] synonym: "primary brain tumour" EXACT OMO:0003005 [] xref: NCIT:C170814 {source="MONDO:equivalentTo"} xref: NCIT:C4952 {source="ONCOTREE:PBT", source="MONDO:equivalentTo"} xref: ONCOTREE:PBT {source="MONDO:equivalentTo"} is_a: EFO:0003833 {source="NCIT:C4952"} ! brain neoplasm property_value: exactMatch NCIT:C170814 property_value: exactMatch NCIT:C4952 [Term] id: MONDO:0021633 name: cerebral astrocytoma def: "An astrocytoma that arises from the cerebral hemispheres." [NCIT:C4951] synonym: "astrocytoma (excluding glioblastoma) of cerebral hemisphere" EXACT [MONDO:design_pattern] synonym: "astrocytoma of cerebral hemispheres" EXACT [NCIT:C4951] synonym: "astrocytoma of cerebrum" EXACT [NCIT:C4951] synonym: "astrocytoma of the cerebral hemispheres" EXACT [NCIT:C4951] synonym: "astrocytoma of the cerebrum" EXACT [NCIT:C4951] synonym: "cerebral astrocytoma" EXACT [NCIT:C4951] synonym: "cerebral hemisphere astrocytoma (excluding glioblastoma)" EXACT [MONDO:patterns/location] synonym: "cerebral hemispheric astrocytoma" EXACT [NCIT:C4951] xref: NCIT:C4951 {source="MONDO:equivalentTo"} xref: SCTID:99131000119108 {source="MONDO:equivalentTo"} is_a: MONDO:0021374 {source="MONDO:Redundant", source="NCIT:C4951", source="NCIT:C4951/inferred"} ! neoplasm of cerebral hemisphere is_a: MONDO:0021631 {source="MONDO:Redundant", source="NCIT:C4951"} ! brain astrocytoma property_value: exactMatch http://identifiers.org/snomedct/99131000119108 property_value: exactMatch NCIT:C4951 [Term] id: MONDO:0021634 name: epithelial skin neoplasm def: "A epithelial neoplasm that involves the zone of skin." [MONDO:patterns/location] synonym: "epithelial skin neoplasm" EXACT [NCIT:C7342] synonym: "epithelial skin tumor" EXACT [NCIT:C7342] synonym: "epithelial skin tumour" EXACT OMO:0003005 [] synonym: "skin epithelium neoplasm" EXACT [NCIT:C7342] synonym: "skin epithelium tumor" EXACT [NCIT:C7342] synonym: "skin epithelium tumour" EXACT OMO:0003005 [] synonym: "zone of skin epithelial neoplasm" EXACT [MONDO:patterns/location] xref: NCIT:C7342 {source="MONDO:equivalentTo"} xref: UMLS:C0345976 {source="NCIT:C7342", source="MONDO:equivalentTo"} is_a: EFO:0004198 {source="MONDO:Redundant", source="NCIT:C7342"} ! skin neoplasm is_a: EFO:0006858 {source="MONDO:Redundant", source="NCIT:C7342"} ! epithelial neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345976 property_value: exactMatch NCIT:C7342 [Term] id: MONDO:0021635 name: neurocristopathy def: "That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage." [MONDO:cjm, Wikipedia:Neurocristopathy] synonym: "disorder of neural crest cell development" EXACT [MONDO:patterns/basis_in_disruption_of_process] synonym: "disorder of neural crest development" EXACT [MONDO:cjm] synonym: "neural crest cell development disease" EXACT [] is_a: MONDO:0021147 ! disorder of development or morphogenesis [Term] id: MONDO:0021636 name: astrocytic tumor def: "A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma." [https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23, NCIT:C6958] comment: This class encompasses astrocytomas proper as well as GBM. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23 subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:94"} synonym: "astrocytic neoplasm" EXACT [NCIT:C6958] synonym: "astrocytic tumor" EXACT [DOID:3069, NCIT:C6958, Orphanet:94] synonym: "astrocytoma" NARROW AMBIGUOUS [https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23] synonym: "astrocytoma of brain" EXACT [DOID:3069] synonym: "astrocytoma of cerebrum" NARROW [DOID:3069] synonym: "astrocytoma, no ICD-O subtype" EXACT [DOID:3069] synonym: "astroglioma" EXACT [DOID:3069, NCIT:C6958] xref: DOID:3069 {source="MONDO:equivalentTo"} xref: EFO:0000272 {source="MONDO:equivalentTo"} xref: MedDRA:10003571 {source="Orphanet:94/e", source="Orphanet:94"} xref: NCIT:C6958 {source="DOID:3069", source="MONDO:equivalentTo"} xref: Orphanet:94 {source="MONDO:equivalentTo"} is_a: EFO:0005543 {source="NCIT:C6958"} ! glioma property_value: closeMatch http://identifiers.org/meddra/10003571 property_value: exactMatch DOID:3069 property_value: exactMatch NCIT:C6958 property_value: exactMatch Orphanet:94 [Term] id: MONDO:0021637 name: low grade glioma def: "A grade I or grade II glioma arising from the central nervous system. This category includes pilocytic astrocytoma, diffuse astrocytoma, subependymal giant cell astrocytoma, ependymoma, oligodendroglioma, oligoastrocytoma, and angiocentric glioma." [NCIT:C132067] synonym: "low grade glioma" EXACT [NCIT:C132067] synonym: "low-grade glioma" EXACT [NCIT:C132067] xref: DOID:0080829 {source="MONDO:equivalentTo"} xref: NCIT:C132067 {source="MONDO:equivalentTo"} xref: UMLS:C1997217 {source="MONDO:equivalentTo", source="NCIT:C132067"} is_a: EFO:0005543 {source="MONDO:Redundant", source="NCIT:C132067"} ! glioma intersection_of: EFO:0005543 ! glioma intersection_of: has_characteristic MONDO:0024495 ! tumor grade 1 or 2, general grading system relationship: has_characteristic MONDO:0024495 ! tumor grade 1 or 2, general grading system property_value: exactMatch DOID:0080829 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1997217 property_value: exactMatch NCIT:C132067 [Term] id: MONDO:0021638 name: low grade astrocytic tumor def: "A grade I or grade II astrocytic tumor. This category includes pilocytic astrocytoma (grade I), subependymal giant cell astrocytoma (grade I), and diffuse astrocytoma (grade II)." [NCIT:C116342] synonym: "low grade astrocytic neoplasm" EXACT [NCIT:C116342] synonym: "low grade astrocytic tumor" EXACT [NCIT:C116342] synonym: "low-grade astrocytic neoplasm" EXACT [NCIT:C116342] synonym: "low-grade astrocytic tumor" EXACT [NCIT:C116342] synonym: "low-grade astrocytic tumour" EXACT OMO:0003005 [] xref: NCIT:C116342 {source="MONDO:equivalentTo"} xref: UMLS:C3898569 {source="NCIT:C116342", source="MONDO:equivalentTo"} is_a: MONDO:0021636 {source="MONDO:Redundant", source="NCIT:C116342"} ! astrocytic tumor is_a: MONDO:0021637 {source="MONDO:Redundant", source="NCIT:C116342"} ! low grade glioma intersection_of: MONDO:0021636 ! astrocytic tumor intersection_of: has_characteristic MONDO:0024495 ! tumor grade 1 or 2, general grading system property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3898569 property_value: exactMatch NCIT:C116342 [Term] id: MONDO:0021639 name: grade II glioma def: "A glioma arising from the central nervous system. This category includes diffuse astrocytoma, ependymoma, oligodendroglioma, and oligoastrocytoma." [NCIT:C132505] synonym: "grade II glioma" EXACT [NCIT:C132505] synonym: "WHO grade II glioma" EXACT [NCIT:C132505] xref: NCIT:C132505 {source="MONDO:equivalentTo"} xref: UMLS:C4330050 {source="MONDO:equivalentTo"} is_a: MONDO:0021637 ! low grade glioma intersection_of: EFO:0005543 ! glioma intersection_of: has_characteristic MONDO:0024492 ! tumor grade 2, general grading system relationship: has_characteristic MONDO:0024492 ! tumor grade 2, general grading system property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4330050 property_value: exactMatch NCIT:C132505 [Term] id: MONDO:0021640 name: grade III glioma def: "A group of malignant gliomas that includes anaplastic astrocytoma, anaplastic oligodendroglioma, anaplastic oligoastrocytoma, and anaplastic ependymoma." [NCIT:C127816] synonym: "anaplastic glioma" EXACT [NCIT:C127816] synonym: "WHO grade III glioma" EXACT [NCIT:C127816] xref: NCIT:C127816 {source="MONDO:equivalentTo"} xref: UMLS:C4287997 {source="MONDO:equivalentTo"} is_a: MONDO:0100342 {source="NCIT:C127816"} ! malignant glioma intersection_of: EFO:0005543 ! glioma intersection_of: has_characteristic MONDO:0024493 ! tumor grade 3, general grading system relationship: has_characteristic MONDO:0024493 ! tumor grade 3, general grading system property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4287997 property_value: exactMatch NCIT:C127816 [Term] id: MONDO:0021651 name: synpolydactyly def: "A joint presentation of syndactyly (fusion of digits) and polydactyly (production of supernumerary digits)." [https://en.wikipedia.org/wiki/Synpolydactyly] subset: gard_rare subset: ordo_morphological_anomaly {source="Orphanet:93403"} synonym: "polysyndactyly" EXACT [SCTID:84598000, UMLS:C0265553] synonym: "SPD" RELATED ABBREVIATION [GARD:0005087] synonym: "syndactyly type 2" EXACT [MONDO:0019683] synonym: "synpolydactyly" EXACT [NCIT:C75003, Orphanet:93403] xref: MESH:C538153 {source="MONDO:equivalentTo", source="Orphanet:93403", source="Orphanet:93403/e"} xref: NCIT:C125597 {source="MONDO:relatedTo"} xref: NCIT:C75003 {source="MONDO:equivalentTo"} xref: Orphanet:93403 {source="MONDO:equivalentTo", source="GARD:0005087"} xref: SCTID:715724002 {source="MONDO:equivalentTo"} xref: SCTID:84598000 {source="MONDO:equivalentTo"} xref: UMLS:C0265553 {source="MONDO:equivalentTo"} is_a: MONDO:0021002 ! syndactyly is_a: MONDO:0021003 ! polydactyly property_value: exactMatch http://identifiers.org/mesh/C538153 property_value: exactMatch http://identifiers.org/snomedct/715724002 property_value: exactMatch http://identifiers.org/snomedct/84598000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265553 property_value: exactMatch NCIT:C75003 property_value: exactMatch Orphanet:93403 property_value: excluded_subClassOf MONDO:0002254 {source="NCIT:C75003"} property_value: excluded_subClassOf MONDO:0019530 {source="Orphanet:93403"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3919 xsd:anyURI property_value: relatedMatch NCIT:C125597 [Term] id: MONDO:0021652 name: diffuse type adenocarcinoma def: "An adenocarcinoma characterized by the presence of a diffuse cellular infiltrate which is composed of poorly cohesive cells with minimal or no glandular formations. Representative example is the gastric diffuse adenocarcinoma." [NCIT:C4127] synonym: "diffuse type adenocarcinoma" EXACT [NCIT:C4127] synonym: "diffuse type carcinoma" EXACT [NCIT:C4127] xref: ICDO:8145/3 {source="NCIT:C4127"} xref: NCIT:C4127 {source="MONDO:equivalentTo"} is_a: EFO:0000228 {source="NCIT:C4127"} ! adenocarcinoma property_value: exactMatch NCIT:C4127 [Term] id: MONDO:0021653 name: cutaneous focal mucinosis synonym: "focal mucinoses" RELATED [] synonym: "focal mucinosis" RELATED [] xref: ICD9:701.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:110981005 {source="MONDO:equivalentTo"} xref: UMLS:C0406659 {source="MONDO:equivalentTo"} is_a: MONDO:0002523 ! cutaneous mucinosis property_value: exactMatch http://identifiers.org/snomedct/110981005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406659 [Term] id: MONDO:0021656 name: nongerminomatous germ cell tumor def: "A term that refers to teratoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, or mixed forms of these tumors." [NCIT:C121619] synonym: "non-dysgerminomatous germ cell tumor" EXACT [NCIT:C121619] synonym: "non-dysgerminomatous germ cell tumour" EXACT OMO:0003005 [] synonym: "non-germinomatous germ cell tumor" EXACT [NCIT:C121619] synonym: "non-germinomatous germ cell tumour" EXACT OMO:0003005 [] synonym: "non-seminomatous germ cell tumor" EXACT [NCIT:C121619] synonym: "non-seminomatous germ cell tumour" EXACT OMO:0003005 [] synonym: "Nongerminomatous germ cell tumor" EXACT [NCIT:C121619] synonym: "Nongerminomatous germ cell tumor Including central nervous system" EXACT [NCIT:C121619] synonym: "Nongerminomatous germ cell tumour" EXACT OMO:0003005 [] synonym: "Nongerminomatous germ cell tumour Including central nervous system" EXACT OMO:0003005 [] synonym: "NSGCT" RELATED ABBREVIATION [ONCOTREE:NSGCT] xref: NCIT:C121619 {source="MONDO:equivalentTo"} xref: ONCOTREE:NSGCT {source="MONDO:equivalentTo"} is_a: EFO:0000514 {source="NCIT:C121619"} ! germ cell tumor property_value: exactMatch NCIT:C121619 [Term] id: MONDO:0021657 name: ovarian sex cord-stromal tumor def: "A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. Representative examples include thecoma, fibroma, Sertoli cell tumor, and granulosa cell tumor." [NCIT:C4862] synonym: "ovarian sex cord tumor with annular tubules" RELATED [GARD:0012285] synonym: "ovarian sex cord tumour with annular tubules" RELATED OMO:0003005 [] synonym: "ovarian Sex cord-stromal neoplasm" EXACT [NCIT:C4862] synonym: "ovarian Sex cord-stromal tumor" EXACT [NCIT:C4862] synonym: "ovarian Sex cord-stromal tumour" EXACT OMO:0003005 [] synonym: "ovary sex cord-stromal tumor" EXACT [MONDO:patterns/location] synonym: "ovary sex cord-stromal tumour" EXACT OMO:0003005 [] synonym: "sex cord stromal tumor" RELATED [ONCOTREE:SCST] synonym: "sex cord stromal tumour" RELATED OMO:0003005 [] synonym: "Sex cord-stromal neoplasm of ovary" EXACT [NCIT:C4862] synonym: "Sex cord-stromal neoplasm of the ovary" EXACT [NCIT:C4862] synonym: "Sex cord-stromal tumor of ovary" EXACT [NCIT:C4862] synonym: "sex cord-stromal tumor of ovary" EXACT [] synonym: "Sex cord-stromal tumor of the ovary" EXACT [NCIT:C4862] synonym: "Sex cord-stromal tumour of ovary" EXACT OMO:0003005 [] synonym: "sex cord-stromal tumour of ovary" EXACT OMO:0003005 [] synonym: "Sex cord-stromal tumour of the ovary" EXACT OMO:0003005 [] xref: DOID:0080369 {source="MONDO:equivalentTo"} xref: EFO:1000430 {source="MONDO:equivalentTo"} xref: NCIT:C4862 {source="MONDO:equivalentTo"} xref: ONCOTREE:SCST {source="MONDO:equivalentTo"} xref: UMLS:C0600113 {source="MONDO:equivalentTo", source="NCIT:C4862"} is_a: EFO:0003893 {source="MONDO:Redundant", source="NCIT:C4862"} ! ovarian neoplasm is_a: EFO:1000052 {source="MONDO:Redundant", source="NCIT:C4862"} ! sex cord-stromal tumor property_value: exactMatch DOID:0080369 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0600113 property_value: exactMatch NCIT:C4862 [Term] id: MONDO:0021658 name: vascular ectasia synonym: "vascular ectasia" EXACT [NCIT:C45481] xref: NCIT:C45481 {source="MONDO:equivalentTo"} xref: UMLS:C0002959 {source="NCIT:C45481", source="MONDO:equivalentTo"} is_a: EFO:0004264 {source="NCIT:C45481/inferred"} ! vascular disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002959 property_value: exactMatch NCIT:C45481 [Term] id: MONDO:0021661 name: coronary atherosclerosis def: "Atherosclerosis of the coronary vasculature." [NCIT:C35505] synonym: "arteriosclerosis disorder of coronary artery" EXACT [MONDO:design_pattern] synonym: "atherosclerosis of coronary artery" BROAD [] synonym: "coronary artery arteriosclerosis (disease)" EXACT [MONDO:patterns/location] synonym: "coronary artery arteriosclerosis disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "coronary atherosclerosis" EXACT [NCIT:C35505] xref: ICD9:414.00 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C35505 {source="MONDO:equivalentTo"} xref: SCTID:443502000 {source="MONDO:equivalentTo"} is_a: EFO:0001645 {source="MONDO:Redundant", source="https://www.nhlbi.nih.gov/health-topics/coronary-heart-disease"} ! coronary artery disease is_a: EFO:0003914 {source="NCIT:C35505"} ! atherosclerosis property_value: exactMatch http://identifiers.org/snomedct/443502000 property_value: exactMatch http://identifiers.org/snomedct/443502000 property_value: exactMatch NCIT:C35505 property_value: exactMatch NCIT:C35505 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0021662 name: bile duct neoplasm def: "A benign or malignant neoplasm that affects the intrahepatic or extrahepatic bile ducts. Representative examples of benign neoplasms include bile duct adenoma and extrahepatic bile duct lipoma. Representative examples of malignant neoplasms include intrahepatic and extrahepatic cholangiocarcinoma." [NCIT:C2898] synonym: "bile duct neoplasm" EXACT [NCIT:C2898] synonym: "bile duct neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "bile duct tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2898] synonym: "bile duct tumour" EXACT OMO:0003005 [] synonym: "intrahepatic and extrahepatic bile duct neoplasm" EXACT [NCIT:C2898] synonym: "intrahepatic and extrahepatic bile duct tumor" EXACT [NCIT:C2898] synonym: "intrahepatic and extrahepatic bile duct tumour" EXACT OMO:0003005 [] synonym: "neoplasm of bile duct" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of bile duct" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of bile duct" EXACT OMO:0003005 [] xref: MESH:D001650 {source="MONDO:equivalentTo"} xref: NCIT:C2898 {source="MONDO:equivalentTo"} xref: UMLS:C0005396 {source="MONDO:equivalentTo", source="NCIT:C2898"} is_a: EFO:0003891 ! biliary tract neoplasm is_a: MONDO:0002887 {source="MONDO:Redundant", source="NCIT:C2898"} ! bile duct disorder property_value: exactMatch http://identifiers.org/mesh/D001650 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005396 property_value: exactMatch NCIT:C2898 [Term] id: MONDO:0021663 name: sarcomatoid squamous cell carcinoma def: "A poorly differentiated squamous cell carcinoma characterized by the presence of malignant cells with spindle cell features." [NCIT:C27084] synonym: "epidermoid spindle cell carcinoma" EXACT [NCIT:C27084] synonym: "sarcomatoid squamous cell carcinoma" EXACT [NCIT:C27084] synonym: "spindle cell (sarcomatoid) squamous cell carcinoma" EXACT [NCIT:C27084] synonym: "squamous cell carcinoma, sarcomatoid" EXACT [NCIT:C27084] synonym: "squamous cell carcinoma, spindle cell" EXACT [NCIT:C27084] synonym: "squamous cell spindle cell carcinoma" EXACT [NCIT:C27084] xref: ICD9:199.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8074/3 {source="NCIT:C27084"} xref: NCIT:C27084 {source="MONDO:equivalentTo"} xref: SCTID:403900000 {source="MONDO:equivalentTo"} is_a: EFO:0000707 {source="MONDO:Redundant", source="NCIT:C27084"} ! squamous cell carcinoma is_a: EFO:1000520 {source="MONDO:Redundant", source="NCIT:C27084"} ! Sarcomatoid Carcinoma intersection_of: EFO:0000707 {source="NCIT:C27084"} ! squamous cell carcinoma intersection_of: EFO:1000520 {source="NCIT:C27084"} ! Sarcomatoid Carcinoma property_value: exactMatch http://identifiers.org/snomedct/403900000 property_value: exactMatch NCIT:C27084 [Term] id: MONDO:0021666 name: ear infection def: "A viral or bacterial infection that affects the external, middle, or inner ear. It may follow an upper respiratory infection. Signs and symptoms include pain, ear discharge, ear fullness, hearing loss, vertigo, nausea, and vomiting." [NCIT:C27193] synonym: "Ear infection" EXACT [NCIT:C27193] synonym: "otitis" EXACT [NCIT:C27193] xref: MESH:D010031 {source="MONDO:equivalentTo"} xref: NCIT:C27193 {source="MONDO:equivalentTo"} xref: UMLS:C0699744 {source="MONDO:equivalentTo", source="NCIT:C27193"} is_a: EFO:0005741 ! infectious disease is_a: EFO:0009903 {source="MONDO:Entailed", source="NCIT:C27193/inferred"} ! inflammatory disease is_a: MONDO:0021205 {source="MONDO:Redundant", source="NCIT:C27193/inferred"} ! disorder of ear property_value: exactMatch http://identifiers.org/mesh/D010031 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0699744 property_value: exactMatch NCIT:C27193 [Term] id: MONDO:0021668 name: obsolete disorder involving pain synonym: "pain disorder" EXACT [MONDO:0000691] xref: DOID:0060164 {source="MONDO:obsoleteEquivalent"} xref: SCTID:373673007 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C1300028 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch DOID:0060164 property_value: exactMatch http://identifiers.org/snomedct/373673007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1300028 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3163 xsd:anyURI is_obsolete: true replaced_by: MONDO:0700057 [Term] id: MONDO:0021669 name: post-infectious disorder def: "A disorder that follows infection but is distinct from the infection itself and its usual manifestations." [SCTID:123976001] synonym: "sequela of infectious disorder" EXACT [https://github.com/monarch-initiative/mondo/pull/3118#issuecomment-871858054, https://orcid.org/0000-0001-5208-3432] xref: ICD10CM:B90-B94 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:139.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:123976001 {source="MONDO:equivalentTo"} is_a: EFO:0000408 ! disease relationship: disease_arises_from_feature EFO:0005741 ! infectious disease property_value: exactMatch http://identifiers.org/snomedct/123976001 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/B90-B94 [Term] id: MONDO:0021670 name: post-infectious syndrome is_a: MONDO:0002254 ! syndromic disease is_a: MONDO:0021669 ! post-infectious disorder intersection_of: MONDO:0002254 ! syndromic disease intersection_of: disease_arises_from_feature EFO:0005741 ! infectious disease [Term] id: MONDO:0021673 name: post-bacterial disorder is_a: MONDO:0021669 ! post-infectious disorder relationship: disease_arises_from_feature EFO:0000771 ! bacterial disease [Term] id: MONDO:0021674 name: post-viral disorder def: "A post-infectious disorder that follows viral infection but is distinct from the viral infection itself and its usual manifestations." [https://orcid.org/0000-0001-5208-3432] synonym: "sequela of viral disease" EXACT [https://orcid.org/0000-0001-5208-3432] xref: ICD9:139.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:123948009 {source="MONDO:equivalentTo"} is_a: MONDO:0021669 ! post-infectious disorder relationship: disease_arises_from_feature EFO:0000763 ! viral disease property_value: exactMatch http://identifiers.org/snomedct/123948009 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2950 xsd:anyURI [Term] id: MONDO:0021677 name: post-infectious neuralgia synonym: "postinfectious neuralgia" EXACT [] xref: ICD9:729.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:17111003 {source="MONDO:equivalentTo"} xref: UMLS:C0032772 {source="MONDO:equivalentTo"} is_a: EFO:0009430 ! neuralgia is_a: MONDO:0021674 ! post-viral disorder intersection_of: EFO:0009430 ! neuralgia intersection_of: disease_arises_from_feature EFO:0000763 ! viral disease property_value: exactMatch http://identifiers.org/snomedct/17111003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032772 [Term] id: MONDO:0021678 name: gram-negative bacterial infections def: "Infections caused by bacteria that show up as pink (negative) when treated by the gram-staining method." [MESH:D016905] comment: Editor note: this does not correspond to a taxonomic grouping, so classification is manual for now synonym: "bacterial infection, gram-negative" RELATED [MESH:D016905] synonym: "bacterial infections, gram negative" RELATED [MESH:D016905] synonym: "bacterial infections, gram-negative" RELATED [MESH:D016905] synonym: "bacterial infections, gramme negative" RELATED OMO:0003005 [] synonym: "gram negative bacterial infections" RELATED [MESH:D016905] synonym: "gram-negative bacterial infection" RELATED [MESH:D016905] synonym: "gramme negative bacterial infections" RELATED OMO:0003005 [] synonym: "infection, gram-negative bacterial" RELATED [MESH:D016905] synonym: "infections, gram negative bacterial" RELATED [MESH:D016905] synonym: "infections, gram-negative bacterial" RELATED [MESH:D016905] synonym: "infections, gramme negative bacterial" RELATED OMO:0003005 [] xref: ICD9:041.85 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D016905 {source="MONDO:equivalentTo"} xref: SCTID:371583007 {source="MONDO:equivalentTo"} is_a: EFO:0000771 {source="MESH:D016905"} ! bacterial disease property_value: exactMatch http://identifiers.org/mesh/D016905 property_value: exactMatch http://identifiers.org/snomedct/371583007 [Term] id: MONDO:0021679 name: gram-positive bacterial infections def: "Infections caused by bacteria that retain the crystal violet stain (positive) when treated by the gram-staining method." [MESH:D016908] comment: Editor note: this does not correspond to a taxonomic grouping, so classification is manual for now synonym: "bacterial infection, Gram-positive" RELATED [MESH:D016908] synonym: "bacterial infections, Gram Positive" RELATED [MESH:D016908] synonym: "bacterial infections, Gram-positive" RELATED [MESH:D016908] synonym: "bacterial infections, Gramme Positive" RELATED OMO:0003005 [] synonym: "Gram Positive bacterial infections" RELATED [MESH:D016908] synonym: "Gram-positive bacterial infection" RELATED [MESH:D016908] synonym: "Gramme Positive bacterial infections" RELATED OMO:0003005 [] synonym: "infection, Gram-positive bacterial" RELATED [MESH:D016908] synonym: "infections, Gram Positive bacterial" RELATED [MESH:D016908] synonym: "infections, Gram-positive bacterial" RELATED [MESH:D016908] synonym: "infections, Gramme Positive bacterial" RELATED OMO:0003005 [] xref: ICD9:041.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D016908 {source="MONDO:equivalentTo"} xref: SCTID:371582002 {source="MONDO:equivalentTo"} is_a: EFO:0000771 {source="MESH:D016908"} ! bacterial disease property_value: exactMatch http://identifiers.org/mesh/D016908 property_value: exactMatch http://identifiers.org/snomedct/371582002 [Term] id: MONDO:0021681 name: sexually transmitted disease def: "A Disease due to or propagated by sexual contact." [MESH:D012749, MONDO:cjm] synonym: "disease (VD), venereal" EXACT [NCIT:C3365] synonym: "disease, sexually Transmitted" RELATED [MESH:D012749] synonym: "disease, venereal" RELATED [MESH:D012749] synonym: "diseases, sexually Transmitted" RELATED [MESH:D012749] synonym: "diseases, venereal" RELATED [MESH:D012749] synonym: "infection, sexually Transmitted" RELATED [MESH:D012749] synonym: "infections, sexually Transmitted" RELATED [MESH:D012749] synonym: "sexually transmitted disease" EXACT [MESH:D012749] synonym: "sexually Transmitted disorder" EXACT [NCIT:C3365] synonym: "sexually Transmitted infection" RELATED [MESH:D012749] synonym: "sexually Transmitted infections" RELATED [MESH:D012749] synonym: "STD" EXACT ABBREVIATION [NCIT:C3365] synonym: "STDs" RELATED [MESH:D012749] synonym: "STI" RELATED ABBREVIATION [MESH:D012749] synonym: "STIs" RELATED [MESH:D012749] synonym: "Transmitted infection, sexually" RELATED [MESH:D012749] synonym: "Transmitted infections, sexually" RELATED [MESH:D012749] synonym: "VD" EXACT ABBREVIATION [NCIT:C3365] synonym: "VD, venereal disease" EXACT [NCIT:C3365] synonym: "venereal disease" RELATED [MESH:D012749] synonym: "venereal disease (VD)" EXACT [NCIT:C3365] synonym: "venereal diseases" RELATED [MESH:D012749] xref: ICD10CM:A50-A64 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:099.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:099.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D012749 {source="MONDO:equivalentTo"} xref: NCIT:C3365 {source="MONDO:equivalentTo"} xref: SCTID:8098009 {source="MONDO:equivalentTo"} xref: UMLS:C0036916 {source="MONDO:equivalentTo"} is_a: EFO:0000512 ! reproductive system disease is_a: EFO:0005741 {source="ICD10CM:A50-A64", source="MONDO:Redundant", source="NCIT:C3365"} ! infectious disease property_value: exactMatch http://identifiers.org/mesh/D012749 property_value: exactMatch http://identifiers.org/snomedct/8098009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036916 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/A50-A64 property_value: exactMatch NCIT:C3365 [Term] id: MONDO:0021682 name: viral sexually transmitted disease def: "Viral diseases which are potentially transmitted or propagated by sexual conduct." [MESH:D015229, MONDO:cjm] synonym: "disease, viral venereal" RELATED [MESH:D015229] synonym: "diseases, viral venereal" RELATED [MESH:D015229] synonym: "sexually Transmitted disease, viral" RELATED [MESH:D015229] synonym: "venereal disease, viral" RELATED [MESH:D015229] synonym: "venereal diseases, viral" RELATED [MESH:D015229] synonym: "viral sexually transmitted disease" EXACT [MESH:D015229] synonym: "viral sexually Transmitted diseases" RELATED [MESH:D015229] synonym: "viral venereal disease" RELATED [MESH:D015229] synonym: "viral venereal diseases" RELATED [MESH:D015229] xref: MESH:D015229 {source="MONDO:equivalentTo"} xref: UMLS:C0036918 {source="MONDO:equivalentTo"} is_a: MONDO:0021681 {source="MESH:D015229", source="MONDO:Redundant"} ! sexually transmitted disease is_a: MONDO:0100329 ! primary viral infectious disease property_value: exactMatch http://identifiers.org/mesh/D015229 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036918 [Term] id: MONDO:0021698 name: alcohol-related disorders def: "Disorders related to or resulting from abuse or mis-use of alcohol." [MESH:D019973] synonym: "alcohol related disorders" RELATED [MESH:D019973] synonym: "alcohol-related disorder" RELATED [MESH:D019973] synonym: "disorder, alcohol-related" RELATED [MESH:D019973] synonym: "disorders, alcohol-related" RELATED [MESH:D019973] xref: MESH:D019973 {source="MONDO:equivalentTo"} xref: SCTID:29212009 {source="MONDO:equivalentTo"} is_a: MONDO:0002494 {source="MESH:D019973", source="MONDO:Redundant"} ! substance-related disorder property_value: exactMatch http://identifiers.org/mesh/D019973 property_value: exactMatch http://identifiers.org/snomedct/29212009 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0021699 name: alcohol-induced disorders def: "Disorders stemming from the misuse and abuse of alcohol." [MESH:D020751] synonym: "alcohol induced disorders" RELATED [MESH:D020751] synonym: "alcohol-induced disorder" RELATED [MESH:D020751] xref: MESH:D020751 {source="MONDO:equivalentTo"} xref: SCTID:719848005 {source="MONDO:equivalentTo"} xref: UMLS:C0236970 {source="MONDO:equivalentTo"} is_a: MONDO:0021698 {source="MESH:D020751"} ! alcohol-related disorders property_value: exactMatch http://identifiers.org/mesh/D020751 property_value: exactMatch http://identifiers.org/snomedct/719848005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0236970 [Term] id: MONDO:0021718 name: polyneuritis def: "Inflammation of several peripheral nerves." [NCIT:C26864] synonym: "Inflammatory polyneuropathy" RELATED [UMLS:C0032541] synonym: "inflammatory polyneuropathy" RELATED [] synonym: "Multiple neuritis" RELATED [GTR:AN1355640, HP:0031003] synonym: "Polyneuritides" RELATED [MESH:D009443] synonym: "Polyneuritis" RELATED [GTR:AN1353837, HP:0031003, MESH:D009443, NCIT:C26864] synonym: "polyneuritis" EXACT [NCIT:C26864] xref: GTR:AN1353837 {source="UMLS:C0032541"} xref: GTR:AN1355640 {source="UMLS:C0032541"} xref: HP:0031003 {source="UMLS:C0032541"} xref: NCIT:C26864 {source="MONDO:equivalentTo", source="UMLS:C0032541"} xref: SCTID:76886005 {source="MONDO:equivalentTo", source="UMLS:C0032541"} xref: UMLS:C0032541 {source="MONDO:equivalentTo"} is_a: EFO:0009562 {source="NCIT:C26864"} ! polyneuropathy is_a: MONDO:0002122 {source="NCIT:C26864"} ! neuritis intersection_of: EFO:0009562 ! polyneuropathy intersection_of: MONDO:0002122 ! neuritis property_value: exactMatch http://identifiers.org/snomedct/76886005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032541 property_value: exactMatch NCIT:C26864 [Term] id: MONDO:0021739 name: prurigo def: "A name applied to several itchy skin eruptions of unknown cause. The characteristic course is the formation of a dome-shaped papule with a small transient vesicle on top, followed by crusting over or lichenification. (From Dorland, 27th ed)" [MESH:D011536] synonym: "Itchy skin eruption" RELATED [UMLS:C0033771] synonym: "itchy skin eruption" RELATED [] synonym: "Prurigo" RELATED [MESH:D011536] synonym: "prurigo" EXACT [] synonym: "Pruritic rash" RELATED [UMLS:C0033771] synonym: "pruritic rash" EXACT [] xref: ICD9:698.2 xref: ICD9:698.8 xref: MESH:D011536 {source="MONDO:equivalentTo", source="UMLS:C0033771"} xref: SCTID:64144002 {source="MONDO:equivalentTo", source="UMLS:C0033771"} xref: UMLS:C0033771 {source="MONDO:equivalentTo"} is_a: EFO:1000697 ! exanthem property_value: exactMatch http://identifiers.org/mesh/D011536 property_value: exactMatch http://identifiers.org/snomedct/64144002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033771 [Term] id: MONDO:0021747 name: Acanthamoeba infectious disease def: "A infectious disease involving the Acanthamoeba." [MONDO:patterns/infectious_disease_by_agent] synonym: "Acanthamoeba infection" EXACT [MONDO:patterns/infectious_disease_by_agent] synonym: "acanthamoebiasis" RELATED [] synonym: "acanthamoebosis" RELATED [] synonym: "infection by Acanthamoeba" EXACT [] synonym: "infection caused by Acanthamoeba" RELATED [] synonym: "infections, Acanthamoeba" RELATED [MONDO:patterns/infectious_disease_by_agent] xref: SCTID:49649001 {source="MONDO:equivalentTo"} is_a: EFO:0005741 ! infectious disease property_value: exactMatch http://identifiers.org/snomedct/49649001 [Term] id: MONDO:0021765 name: radiculitis def: "An inflammatory process affecting a nerve root. Patients experience pain radiating along a nerve path because of spinal pressure on the nerve root that connects to the nerve path." [NCIT:C78581] synonym: "Inflammation, Nerve Root" RELATED [MESH:D011843] synonym: "Nerve Root Inflammation" RELATED [MESH:D011843] synonym: "Nerve Root Inflammations" RELATED [MESH:D011843] synonym: "Radiculitides" RELATED [MESH:D011843] synonym: "Radiculitis" RELATED [MESH:D011843, NCIT:C78581] synonym: "radiculitis" EXACT [NCIT:C78581] xref: ICD9:729.2 xref: NCIT:C78581 {source="MONDO:equivalentTo", source="UMLS:C0034544"} xref: SCTID:82473003 {source="MONDO:equivalentTo", source="UMLS:C0034544"} xref: UMLS:C0034544 {source="MONDO:equivalentTo"} is_a: EFO:0000618 ! nervous system disease is_a: EFO:0009903 ! inflammatory disease property_value: exactMatch http://identifiers.org/snomedct/82473003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034544 property_value: exactMatch NCIT:C78581 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0021804 name: silicotuberculosis def: "Tuberculosis caused by the infection of Mycobacterium tuberculosis in patients with silicosis (that is caused by inhalation of silica dust particles). The risk of a patient with silicosis developing pulmonary tuberculosis and extra-pulmonary tuberculosis is higher than in healthy population." [https://orcid.org/0000-0002-6670-9157, PMID:26175823] synonym: "silicotuberculoses" EXACT [MESH:D012830] synonym: "silicotuberculosis" EXACT [MESH:D012830] xref: ICD9:502 xref: MESH:D012830 {source="MONDO:equivalentTo", source="UMLS:C0037118"} xref: SCTID:233763009 {source="MONDO:equivalentTo", source="UMLS:C0037118"} xref: UMLS:C0037118 {source="MONDO:equivalentTo"} is_a: EFO:0007485 {source="MESH:D012830"} ! silicosis is_a: EFO:1000049 {source="MESH:D012830", source="UMLS:C0037118"} ! pulmonary tuberculosis is_a: MONDO:0024355 ! respiratory tract infectious disorder intersection_of: EFO:0007485 ! silicosis intersection_of: MONDO:0018076 ! tuberculosis property_value: exactMatch http://identifiers.org/mesh/D012830 property_value: exactMatch http://identifiers.org/snomedct/233763009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037118 [Term] id: MONDO:0021812 name: adnexal spiradenoma/cylindroma of a sweat gland def: "A benign sweat gland neoplasm usually occurring in the scalp or the face. It may present as solitary or multiple papular or nodular lesions. It may be a sporadic lesion or part of Brooke-Spiegler syndrome. It arises from the dermis and has a multinodular, circumscribed appearance. The nodules contain basaloid cells with small, dark nuclei. Complete excision is usually curative." [NCIT:C27094] comment: Editor note: See GARD:0010464 subset: gard_rare synonym: "adnexal sweat gland spiradenoma/cylindroma" RELATED [GARD:0008641] synonym: "cylindroma" EXACT [NCIT:C27094] synonym: "cylindroma of skin" EXACT [NCIT:C27094] synonym: "cylindroma of the skin" EXACT [NCIT:C27094] synonym: "dermal cylindroma" EXACT [NCIT:C27094] xref: ICDO:8200/0 {source="NCIT:C27094"} xref: NCIT:C27094 {source="MONDO:equivalentTo"} xref: SCTID:274903001 {source="MONDO:equivalentTo"} is_a: MONDO:0021489 {source="NCIT:C27094"} ! benign neoplasm of sweat gland property_value: exactMatch http://identifiers.org/snomedct/274903001 property_value: exactMatch NCIT:C27094 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8641/adnexal-spiradenomacylindroma-of-a-sweat-gland xsd:anyURI {source="GARD:0008641"} [Term] id: MONDO:0021925 name: tracheobronchitis def: "Inflammation of the tracheobronchial tree." [NCIT:C122784] synonym: "Tracheobronchitis" RELATED [NCIT:C122784] synonym: "tracheobronchitis" EXACT [NCIT:C122784] xref: NCIT:C122784 {source="MONDO:equivalentTo", source="UMLS:C0040586"} xref: SCTID:13617004 {source="MONDO:equivalentTo", source="UMLS:C0040586"} xref: UMLS:C0040586 {source="MONDO:equivalentTo"} is_a: EFO:0009433 ! lower respiratory tract disease is_a: EFO:0009903 ! inflammatory disease property_value: exactMatch http://identifiers.org/snomedct/13617004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040586 property_value: exactMatch NCIT:C122784 [Term] id: MONDO:0021944 name: auditory neuropathy def: "A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception." [NCIT:C116364] comment: Editor note: OMIMPS seems to refer to a more restricted concept subset: gard_rare synonym: "ANSD" EXACT ABBREVIATION [NCIT:C116364] synonym: "auditory dys-synchrony" EXACT [GARD:0009274, MESH:C538268, NCIT:C116364] synonym: "auditory neuropathy" EXACT [NCIT:C116364] synonym: "auditory neuropathy spectrum disorder" EXACT [NCIT:C116364] synonym: "familial auditory neuropathy" NARROW [MESH:C538268] synonym: "progressive auditory neuropathy" NARROW [MESH:C538268] xref: MESH:C538268 {source="MONDO:equivalentTo"} xref: NCIT:C116364 {source="MONDO:equivalentTo"} xref: OMIMPS:609129 {source="MONDO:equivalentTo"} xref: SCTID:443805006 {source="MONDO:equivalentTo"} xref: UMLS:C1852271 {source="NCIT:C116364", source="GARD:0009274", source="MONDO:equivalentTo"} xref: UMLS:C2732267 {source="MONDO:equivalentTo"} is_a: EFO:0004238 {source="MESH:C538268/inferred"} ! hearing loss is_a: MONDO:0037940 ! inherited auditory system disease property_value: exactMatch http://identifiers.org/mesh/C538268 property_value: exactMatch http://identifiers.org/snomedct/443805006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852271 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2732267 property_value: exactMatch https://omim.org/phenotypicSeries/PS609129 property_value: exactMatch NCIT:C116364 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9274/auditory-neuropathy xsd:anyURI {source="GARD:0009274"} [Term] id: MONDO:0021945 name: hearing disorder def: "A disorder characterized by the partial or complete loss of the ability to detect sounds due to damage to the ear structures or inability of the brain to properly interpret or process the auditory signals it receives from the anatomic structures of the ear." [NCIT:C3078] synonym: "auditory alteration" RELATED [] synonym: "disorder of hearing" RELATED [] synonym: "hearing disorder" EXACT [NCIT:C3078] xref: MESH:D006311 {source="MONDO:equivalentTo"} xref: NCIT:C3078 {source="MONDO:equivalentTo"} xref: SCTID:128540005 {source="MONDO:equivalentTo"} xref: UMLS:C0260662 {source="MONDO:equivalentTo", source="NCIT:C3078"} is_a: EFO:1001455 ! auditory system disease is_a: MONDO:0024417 ! perceptual disorders property_value: exactMatch http://identifiers.org/mesh/D006311 property_value: exactMatch http://identifiers.org/snomedct/128540005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0260662 property_value: exactMatch NCIT:C3078 [Term] id: MONDO:0021953 name: tuberculous fibrosis of lung def: "Scarring of the lung parenchyma caused by pulmonary tuberculosis." [NCIT:C35088] synonym: "Tuberculous Fibrosis of Lung" RELATED [NCIT:C35088] synonym: "Tuberculous fibrosis of lung" RELATED [UMLS:C0041336] synonym: "tuberculous fibrosis of lung" EXACT [NCIT:C35088] xref: ICD9:011.40 xref: ICD9:011.41 xref: ICD9:011.42 xref: ICD9:011.43 xref: ICD9:011.44 xref: ICD9:011.46 xref: NCIT:C35088 {source="UMLS:C0041336", source="MONDO:equivalentTo"} xref: SCTID:90117007 {source="UMLS:C0041336", source="MONDO:equivalentTo"} xref: UMLS:C0041336 {source="MONDO:equivalentTo"} is_a: EFO:0009448 ! pulmonary fibrosis is_a: EFO:1000049 {source="NCIT:C35088", source="UMLS:C0041336"} ! pulmonary tuberculosis is_a: MONDO:0024355 ! respiratory tract infectious disorder intersection_of: EFO:0009448 ! pulmonary fibrosis intersection_of: EFO:1000049 ! pulmonary tuberculosis property_value: exactMatch http://identifiers.org/snomedct/90117007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041336 property_value: exactMatch NCIT:C35088 [Term] id: MONDO:0022057 name: calcifying epithelial odontogenic tumor def: "A slow growing, locally invasive neoplasm arising from tooth-forming tissues. It most often grows intraosseously in the mandible and less frequently in the maxilla. In a minority of cases it grows extraosseously in the gingiva. It is characterized by the presence of a fibrous stroma, epithelial cells with abundant eosinophilic cytoplasm, and amyloid material which is often calcified. Small tumors may be successfully treated with enucleation. Local resection is usually required for larger tumors. Recurrences have been reported in a minority of cases." [NCIT:C54301] subset: gard_rare synonym: "calcifying epithelial odontogenic tumor" EXACT [NCIT:C54301] synonym: "CEOT" RELATED ABBREVIATION [GARD:0006256] synonym: "Pindborg tumor" EXACT [GARD:0006256, MESH:C537961, NCIT:C54301] synonym: "Pindborg tumour" EXACT OMO:0003005 [] xref: ICDO:9340/0 {source="NCIT:C54301"} xref: MESH:C537961 {source="MONDO:equivalentTo"} xref: NCIT:C54301 {source="MONDO:equivalentTo"} xref: UMLS:C0334574 {source="MONDO:equivalentTo", source="NCIT:C54301", source="GARD:0006256"} is_a: EFO:0004198 {source="MESH:C537961"} ! skin neoplasm is_a: MONDO:0021192 {source="MESH:C537961", source="NCIT:C54301"} ! odontogenic neoplasm property_value: exactMatch http://identifiers.org/mesh/C537961 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334574 property_value: exactMatch NCIT:C54301 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6256/calcifying-epithelial-odontogenic-tumor xsd:anyURI {source="GARD:0006256"} [Term] id: MONDO:0022096 name: pyogenic granuloma def: "A disorder of the skin, the oral mucosa, and the gingiva, that usually presents as a solitary polypoid capillary hemangioma often resulting from trauma. It is manifested as an inflammatory response with similar characteristics to those of a granuloma." [MESH:D017789] synonym: "angiogranuloma" RELATED [MESH:D017789] synonym: "angiogranulomas" RELATED [MESH:D017789] synonym: "Capillary hemangioma of granulation tissue type" RELATED [UMLS:C0085653] synonym: "Capillary Hemangioma, Lobular" RELATED [MESH:D017789] synonym: "Granulation Tissue-Type Hemangioma" RELATED [NCIT:C3480] synonym: "Granuloma Pyogenicum" RELATED [MESH:D017789, NCIT:C3480] synonym: "Granuloma pyogenicum" RELATED [UMLS:C0085653] synonym: "Granuloma telangiectaticum" RELATED [UMLS:C0085653] synonym: "Granuloma Telangiecticum" RELATED [MESH:D017789, NCIT:C3480] synonym: "Granuloma, Pyogenic" RELATED [MESH:D017789] synonym: "Granulomata Pyogenicum" RELATED [NCIT:C3480] synonym: "hemangioma, Lobular Capillary" RELATED [MESH:D017789] synonym: "hemangiomatous Granulation Tissue" RELATED [NCIT:C3480] synonym: "Lobular Capillary Hemangioma" RELATED [MESH:D017789] synonym: "Lobular capillary hemangioma" RELATED [GARD:0010963, UMLS:C0085653] synonym: "Lobular Hemangioma" RELATED [NCIT:C3480] synonym: "PG - Pyogenic granuloma" RELATED [UMLS:C0085653] synonym: "Pyogenic Granuloma" RELATED [MESH:D017789, NCIT:C3480] xref: MESH:D017789 {source="MONDO:equivalentTo", source="UMLS:C0085653"} xref: SCTID:200722003 {source="MONDO:equivalentTo", source="UMLS:C0085653"} xref: UMLS:C0085653 {source="MONDO:equivalentTo"} is_a: MONDO:0002407 {source="UMLS:C0085653"} ! capillary hemangioma property_value: exactMatch http://identifiers.org/mesh/D017789 property_value: exactMatch http://identifiers.org/snomedct/200722003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085653 [Term] id: MONDO:0022113 name: central centrifugal cicatricial alopecia subset: gard_rare synonym: "CCCA" RELATED ABBREVIATION [OMIM:618352] synonym: "central centrifugal alopecia" RELATED [GARD:0010826] synonym: "CENTRAL CENTRIFUGAL CICATRICIAL ALOPECIA" RELATED [OMIM:618352] synonym: "central centrifugal cicatricial alopecia" EXACT [] synonym: "hot comb alopecia" RELATED [] xref: ICD9:704.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:618352 {source="MONDO:equivalentTo"} xref: SCTID:109441000119102 {source="MONDO:equivalentTo"} xref: UMLS:C1274708 {source="MONDO:equivalentTo", source="OMIM:618352"} is_a: MONDO:0021034 ! hereditary alopecia property_value: exactMatch http://identifiers.org/snomedct/109441000119102 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1274708 property_value: exactMatch https://omim.org/entry/618352 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10826/central-centrifugal-cicatricial-alopecia xsd:anyURI {source="GARD:0010826"} [Term] id: MONDO:0022173 name: chromosome 11q trisomy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:262923"} synonym: "11q duplication" EXACT [GARD:0001923] synonym: "11q trisomy" EXACT [GARD:0001923] synonym: "chromosome 11q duplication" EXACT [GARD:0001923] synonym: "Duplication 11q" EXACT [GARD:0001923, MESH:C538297] synonym: "partial duplication of chromosome 11q" EXACT [Orphanet:262923] synonym: "partial duplication of the long arm of chromosome 11" EXACT [MONDO:0016962] synonym: "partial duplication of the long arm of chromosome type 11" EXACT [MONDORULE:2, Orphanet:262923] synonym: "partial trisomy 11q" EXACT [GARD:0001923] synonym: "partial trisomy of chromosome 11q" EXACT [Orphanet:262923] synonym: "partial trisomy of the long arm of chromosome 11" EXACT [Orphanet:262923] synonym: "trisomy 11q" EXACT [GARD:0001923, MESH:C538297] xref: MESH:C538297 {source="MONDO:equivalentTo"} xref: Orphanet:262923 {source="MONDO:equivalentTo"} is_a: MONDO:0016932 {source="Orphanet:262923"} ! partial duplication of chromosome 11 property_value: exactMatch http://identifiers.org/mesh/C538297 property_value: exactMatch Orphanet:262923 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4278 xsd:anyURI [Term] id: MONDO:0022174 name: chromosome 12p deletion def: "A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 12." [NCIT:C36410] subset: disease_grouping subset: gard_rare subset: ordo_group_of_disorders {source="Orphanet:316244"} synonym: "12p del" RELATED [NCIT:C36410] synonym: "12p deletion" RELATED [GARD:0006068] synonym: "12p monosomy" RELATED [GARD:0006068] synonym: "12p-" RELATED [NCIT:C36410] synonym: "del(12p)" RELATED [NCIT:C36410] synonym: "deletion 12p" RELATED [GARD:0006068, MESH:C538301] synonym: "loss of chromosome 12p" RELATED [NCIT:C36410] synonym: "monosomy 12p" RELATED [GARD:0006068, MESH:C538301] synonym: "partial deletion of chromosome 12p" EXACT [Orphanet:316244] synonym: "partial deletion of the short arm of chromosome 12" EXACT [MONDO:0017848] synonym: "partial deletion of the short arm of chromosome type 12" EXACT [MONDORULE:2, Orphanet:316244] synonym: "partial monosomy 12p" RELATED [GARD:0006068] synonym: "partial monosomy of chromosome 12p" EXACT [Orphanet:316244] synonym: "partial monosomy of the short arm of chromosome 12" EXACT [Orphanet:316244] xref: MESH:C538301 {source="MONDO:equivalentTo"} xref: MESH:C538302 {source="MONDO:equivalentTo"} xref: NCIT:C36410 {source="MONDO:relatedTo"} xref: Orphanet:316244 {source="MONDO:equivalentTo"} xref: UMLS:C0795844 {source="MONDO:equivalentTo", source="GARD:0006068"} is_a: MONDO:0017277 {source="Orphanet:316244"} ! partial deletion of chromosome 12 property_value: exactMatch http://identifiers.org/mesh/C538301 property_value: exactMatch http://identifiers.org/mesh/C538302 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795844 property_value: exactMatch Orphanet:316244 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI property_value: relatedMatch NCIT:C36410 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6068/chromosome-12p-deletion xsd:anyURI {source="GARD:0006068"} [Term] id: MONDO:0022177 name: chromosome 13q trisomy subset: disease_grouping subset: gard_rare subset: ordo_group_of_disorders {source="Orphanet:262932"} synonym: "13q duplication" EXACT [GARD:0001929] synonym: "13q trisomy" EXACT [GARD:0001929] synonym: "chromosome 13q duplication" EXACT [GARD:0001929] synonym: "Duplication 13q" EXACT [GARD:0001929, MESH:C535485] synonym: "partial duplication of chromosome 13q" EXACT [Orphanet:262932] synonym: "partial duplication of the long arm of chromosome 13" EXACT [MONDO:0016963] synonym: "partial duplication of the long arm of chromosome type 13" EXACT [MONDORULE:2, Orphanet:262932] synonym: "partial trisomy 13q" EXACT [GARD:0001929] synonym: "partial trisomy of chromosome 13q" EXACT [Orphanet:262932] synonym: "partial trisomy of the long arm of chromosome 13" EXACT [Orphanet:262932] synonym: "trisomy 13q" EXACT [GARD:0001929, MESH:C535485] xref: MESH:C535485 {source="MONDO:equivalentTo"} xref: Orphanet:262932 {source="MONDO:equivalentTo"} xref: UMLS:C0795849 {source="GARD:0001929", source="MONDO:relatedTo"} is_a: MONDO:0700029 {source="https://orcid.org/0000-0002-4142-7153"} ! partial duplication of chromosome 13 property_value: exactMatch http://identifiers.org/mesh/C535485 property_value: exactMatch Orphanet:262932 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4278 xsd:anyURI property_value: relatedMatch http://linkedlifedata.com/resource/umls/id/C0795849 [Term] id: MONDO:0022180 name: chromosome 16 trisomy subset: gard_rare synonym: "mosaic trisomy 16" RELATED [GARD:0007060] synonym: "trisomy 16" RELATED [GARD:0007060] synonym: "trisomy chromosome 16" RELATED [GARD:0007060] xref: NCIT:C37866 {source="MONDO:relatedTo"} is_a: MONDO:0700023 ! chromosome 16 disorder is_a: MONDO:0700065 ! trisomy property_value: relatedMatch NCIT:C37866 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7060/chromosome-16-trisomy xsd:anyURI {source="GARD:0007060"} [Term] id: MONDO:0022202 name: disseminated is_a: MONDO:0045040 ! locational disease characteristic [Term] id: MONDO:0022208 name: crystal arthropathy synonym: "Arthritides, Crystal" RELATED [MESH:D000070657] synonym: "Arthritides, Crystalline" RELATED [MESH:D000070657] synonym: "Arthritis, Crystal" RELATED [MESH:D000070657] synonym: "Arthritis, Crystalline" RELATED [MESH:D000070657] synonym: "Arthropathies, Crystal" RELATED [MESH:D000070657] synonym: "Arthropathies, Crystalline" RELATED [MESH:D000070657] synonym: "Arthropathy, Crystal" RELATED [MESH:D000070657] synonym: "Arthropathy, Crystalline" RELATED [MESH:D000070657] synonym: "Crystal Arthritides" RELATED [MESH:D000070657] synonym: "Crystal Arthritis" RELATED [MESH:D000070657] synonym: "Crystal Arthropathies" RELATED [MESH:D000070657] synonym: "Crystal Arthropathy" RELATED [MESH:D000070657] synonym: "Crystal arthropathy" RELATED [UMLS:C0152087] synonym: "crystal arthropathy" EXACT [] synonym: "Crystal-induced arthritis AND/OR synovitis" RELATED [UMLS:C0152087] synonym: "crystal-induced arthritis and/or synovitis" RELATED [] synonym: "Crystal-related arthropathy and periarthropathy" RELATED [UMLS:C0152087] synonym: "crystal-related arthropathy and periarthropathy" RELATED [] synonym: "Crystalline Arthritides" RELATED [MESH:D000070657] synonym: "Crystalline Arthritis" RELATED [MESH:D000070657] synonym: "Crystalline arthritis" RELATED [UMLS:C0152087] synonym: "crystalline arthritis" RELATED [] synonym: "Crystalline Arthropathies" RELATED [MESH:D000070657] synonym: "Crystalline Arthropathy" RELATED [MESH:D000070657] xref: ICD9:712 {source="GARD:0012802"} xref: ICD9:712.80 xref: ICD9:712.88 xref: ICD9:712.90 xref: ICD9:712.98 xref: MEDGEN:508879 {source="UMLS:C0152087"} xref: SCTID:18834007 {source="MONDO:equivalentTo", source="UMLS:C0152087"} xref: UMLS:C0152087 {source="MONDO:equivalentTo"} is_a: EFO:1000999 {source="UMLS:C0152087"} ! joint disease property_value: closeMatch http://identifiers.org/medgen/508879 property_value: exactMatch http://identifiers.org/snomedct/18834007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152087 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0022293 name: vascular disorder of penis def: "A non-neoplastic or neoplastic disorder that affects the blood vessels of the penis. Representative examples include atherosclerosis, venous leak, and hemangioma." [NCIT:C35218] synonym: "Penile Vascular Disorder" RELATED [NCIT:C35218] synonym: "Penile vascular disorder" RELATED [UMLS:C0156307] synonym: "penile vascular disorder" EXACT [NCIT:C35218] synonym: "Penis vascular disorder" RELATED [UMLS:C0156307] synonym: "Vascular disorder of penis" RELATED [UMLS:C0156307] xref: ICD9:607.82 xref: MEDGEN:102349 {source="UMLS:C0156307"} xref: NCIT:C35218 {source="MONDO:equivalentTo", source="UMLS:C0156307"} xref: SCTID:198029003 {source="MONDO:equivalentTo", source="UMLS:C0156307"} xref: UMLS:C0156307 {source="MONDO:equivalentTo"} is_a: EFO:0004264 {source="NCIT:C35218", source="UMLS:C0156307"} ! vascular disease is_a: MONDO:0002036 {source="NCIT:C35218", source="UMLS:C0156307"} ! penile disorder property_value: closeMatch http://identifiers.org/medgen/102349 property_value: exactMatch http://identifiers.org/snomedct/198029003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156307 property_value: exactMatch NCIT:C35218 [Term] id: MONDO:0022394 name: cervical intraepithelial neoplasia subset: gard_rare synonym: "Cervical Dysplasia" RELATED [NCIT:C3782] synonym: "Cervical Intraepithelial Neoplasia" RELATED [MESH:D018290, NCIT:C3782] synonym: "Cervical intraepithelial neoplasia" RELATED [UMLS:C0206708] synonym: "Cervical Intraepithelial Neoplasm" RELATED [MESH:D018290] synonym: "Cervical Intraepithelial Neoplasms" RELATED [MESH:D018290] synonym: "Cervix Intraepithelial Neoplasia" RELATED [NCIT:C3782] synonym: "Cervix Uteri Intraepithelial Neoplasia" RELATED [NCIT:C3782] synonym: "Intraepithelial Neoplasia of Cervix" RELATED [NCIT:C3782] synonym: "Intraepithelial Neoplasia of Cervix Uteri" RELATED [NCIT:C3782] synonym: "Intraepithelial Neoplasia of the Cervix" RELATED [NCIT:C3782] synonym: "Intraepithelial Neoplasia of the Cervix Uteri" RELATED [NCIT:C3782] synonym: "Intraepithelial Neoplasia of the Uterine Cervix" RELATED [NCIT:C3782] synonym: "Intraepithelial Neoplasia of Uterine Cervix" RELATED [NCIT:C3782] synonym: "Intraepithelial Neoplasia, Cervical" RELATED [MESH:D018290] synonym: "Intraepithelial Neoplasm, Cervical" RELATED [MESH:D018290] synonym: "Intraepithelial Neoplasms, Cervical" RELATED [MESH:D018290] synonym: "NEOPL CERVICAL INTRAEPITHELIAL" RELATED [MESH:D018290] synonym: "Neoplasia, Cervical Intraepithelial" RELATED [MESH:D018290] synonym: "Neoplasm, Cervical Intraepithelial" RELATED [MESH:D018290] synonym: "Neoplasms, Cervical Intraepithelial" RELATED [MESH:D018290] synonym: "Uterine Cervix Intraepithelial Neoplasia" RELATED [NCIT:C3782] xref: MEDGEN:60214 {source="UMLS:C0206708"} xref: NCIT:C3782 {source="MONDO:equivalentTo", source="UMLS:C0206708"} xref: SCTID:285636001 {source="MONDO:equivalentTo", source="UMLS:C0206708"} xref: UMLS:C0206708 {source="MONDO:equivalentTo", source="GARD:0009244"} is_a: EFO:1000910 ! dysplasia of cervix relationship: has_characteristic MONDO:0021136 {source="GARD:0009244"} ! rare property_value: closeMatch http://identifiers.org/medgen/60214 property_value: exactMatch http://identifiers.org/snomedct/285636001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206708 property_value: exactMatch NCIT:C3782 [Term] id: MONDO:0022409 name: nephropathy-associated ciliopathy comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders xref: Orphanet:156162 {source="MONDO:equivalentTo"} is_a: EFO:0003900 {source="Orphanet:156162"} ! ciliopathy is_a: MONDO:0100191 ! inherited kidney disorder property_value: exactMatch Orphanet:156162 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0022410 name: retinal ciliopathy subset: disease_grouping subset: ordo_group_of_disorders xref: Orphanet:156165 {source="MONDO:equivalentTo"} is_a: EFO:0003839 ! retinopathy is_a: EFO:0003900 {source="Orphanet:156165"} ! ciliopathy property_value: exactMatch Orphanet:156165 [Term] id: MONDO:0022529 name: BK-virus nephropathy subset: gard_rare synonym: "BK virus nephropathy" EXACT [GARD:0010470] synonym: "BKN" EXACT ABBREVIATION [GARD:0010470] synonym: "kidney disease caused by BK polyomavirus" EXACT [] synonym: "nephropathy caused by BK polyomavirus" EXACT [] synonym: "nephropathy from BK virus" EXACT [GARD:0010470] synonym: "polyomavirus associated nephropathy" EXACT [DOID:0040086] synonym: "Polyomavirus nephropathy" EXACT [GARD:0010470] synonym: "PVAN" EXACT ABBREVIATION [DOID:0040086] xref: DOID:0040086 {source="MONDO:equivalentTo"} xref: ICD9:079.89 xref: SCTID:713886006 {source="MONDO:equivalentTo"} xref: UMLS:C1697878 {source="MONDO:equivalentTo", source="DOID:0040086", source="GARD:0010470"} is_a: MONDO:0005784 {source="DOID:0040086"} ! hantavirus hemorrhagic fever with renal syndrome property_value: exactMatch DOID:0040086 property_value: exactMatch http://identifiers.org/snomedct/713886006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1697878 [Term] id: MONDO:0022606 name: branchial arch disease def: "A disease that involves the pharyngeal system development." [MONDO:patterns/location] subset: gard_rare synonym: "disease of pharyngeal system development" EXACT [MONDO:patterns/location_top] synonym: "disorder of pharyngeal system development" EXACT [MONDO:patterns/basis_in_disruption_of_process, MONDO:patterns/location_top] synonym: "pharyngeal system development disease" EXACT [MONDO:patterns/location] is_a: MONDO:0021147 ! disorder of development or morphogenesis [Term] id: MONDO:0022676 name: obsolete cataract - glaucoma property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2789 xsd:anyURI is_obsolete: true replaced_by: MONDO:0015567 [Term] id: MONDO:0022687 name: cerebellar degeneration def: "Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders." [NCIT:C84624] subset: gard_rare synonym: "Brain degeneration" EXACT [DOID:1443] synonym: "cerebellar Degeneration" EXACT [NCIT:C84624] synonym: "cerebellar degeneration" EXACT [] synonym: "cerebellum neurodegenerative disease" EXACT [MONDO:patterns/location] synonym: "cerebral degeneration" RELATED [DOID:1443] synonym: "neurodegenerative disease of cerebellum" EXACT [MONDO:design_pattern] xref: DOID:1443 {source="MONDO:equivalentTo"} xref: ICD9:331.9 {source="DOID:1443", source="MONDO:directSiblingOf"} xref: NCIT:C84624 {source="MONDO:equivalentTo"} xref: SCTID:418143002 {source="DOID:1443", source="MONDO:directSiblingOf"} xref: SCTID:95646004 {source="MONDO:equivalentTo"} xref: UMLS:C0154671 {source="DOID:1443", source="MONDO:directSiblingOf"} xref: UMLS:C0262404 {source="GARD:0006019", source="NCIT:C84624", source="MONDO:equivalentTo"} is_a: EFO:0005772 ! neurodegenerative disease is_a: MONDO:0002427 ! cerebellar disorder property_value: exactMatch DOID:1443 property_value: exactMatch http://identifiers.org/snomedct/95646004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0262404 property_value: exactMatch NCIT:C84624 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6019/cerebellar-degeneration xsd:anyURI {source="GARD:0006019"} [Term] id: MONDO:0022723 name: chondrodysplasia synonym: "chondrodysplasia" EXACT [] xref: SCTID:205465004 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: exactMatch http://identifiers.org/snomedct/205465004 [Term] id: MONDO:0022736 name: occupational lung disease synonym: "Occupational inhalation disease" RELATED [UMLS:C0264421] synonym: "Occupational lung disease" RELATED [UMLS:C0264421] synonym: "Occupational lung disorder" RELATED [UMLS:C0264421] synonym: "Occupational pulmonary disease" RELATED [UMLS:C0264421] synonym: "Occupational respiratory disease" RELATED [UMLS:C0264421] xref: ICD9:508.9 xref: SCTID:86157004 {source="MONDO:equivalentTo", source="UMLS:C0264421"} xref: UMLS:C0264421 {source="MONDO:equivalentTo"} is_a: EFO:0003818 ! lung disease is_a: MONDO:0100366 ! occupational disorder property_value: exactMatch http://identifiers.org/snomedct/86157004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264421 [Term] id: MONDO:0022749 name: non-neoplastic nevus def: "A abnormal, congenital formation or mark on the skin or neighboring mucosa that does not show neoplastic growth." [NCIT:C3937] synonym: "Non-Neoplastic Nevus" RELATED [NCIT:C3937] synonym: "Non-neoplastic nevus" RELATED [UMLS:C0265027] synonym: "non-neoplastic nevus" EXACT [NCIT:C3937] xref: ICD9:448.1 xref: NCIT:C3937 {source="MONDO:equivalentTo", source="UMLS:C0265027"} xref: SCTID:195381005 {source="MONDO:equivalentTo", source="UMLS:C0265027"} xref: UMLS:C0265027 {source="MONDO:equivalentTo"} is_a: EFO:0000701 ! skin disease property_value: exactMatch http://identifiers.org/snomedct/195381005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265027 property_value: exactMatch NCIT:C3937 [Term] id: MONDO:0022752 name: chromosome 16p13.3 deletion syndrome synonym: "RSTS, Severe" RELATED [MESH:C566433] synonym: "Rubinstein-Taybi syndrome, Severe" RELATED [MESH:C566433] xref: MESH:C566433 {source="MONDO:equivalentTo"} xref: UMLS:C3502510 {source="MONDO:equivalentTo"} is_a: MONDO:0016894 {source="https://orcid.org/0000-0002-4142-7153"} ! partial deletion of the short arm of chromosome 16 is_a: MONDO:0019188 {source="MESH:C566433"} ! Rubinstein-Taybi syndrome property_value: exactMatch http://identifiers.org/mesh/C566433 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3502510 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0022754 name: chromosome 17p deletion def: "A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 17." [NCIT:C36499] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:261965"} synonym: "17p deletion" RELATED [GARD:0006075] synonym: "17p monosomy" RELATED [GARD:0006075] synonym: "17p- syndrome" RELATED [MESH:C538045] synonym: "chromosome 17p deletion" EXACT [GARD:0006075] synonym: "chromosome 17p deletion syndrome" RELATED [MESH:C538045] synonym: "del(17p)" RELATED [NCIT:C36499] synonym: "deletion 17p" RELATED [GARD:0006075] synonym: "deletion 17p syndrome" RELATED [MESH:C538045] synonym: "interstitial deletion 17p" RELATED [MESH:C538045] synonym: "loss of chromosome 17p" RELATED [NCIT:C36499] synonym: "monosomy 17p" RELATED [GARD:0006075] synonym: "partial deletion of chromosome 17p" EXACT [Orphanet:261965] synonym: "partial deletion of the short arm of chromosome 17" EXACT [Orphanet:261965] synonym: "partial monosomy 17p" RELATED [MESH:C538045] synonym: "partial monosomy of chromosome 17p" EXACT [Orphanet:261965] synonym: "partial monosomy of the short arm of chromosome 17" EXACT [MONDO:0016895] synonym: "partial monosomy of the short arm of chromosome type 17" EXACT [MONDORULE:2, Orphanet:261965] xref: MESH:C538045 {source="MONDO:equivalentTo"} xref: NCIT:C36499 {source="MONDO:relatedTo"} xref: Orphanet:261965 {source="MONDO:equivalentTo"} xref: UMLS:CN036220 {source="MONDO:equivalentTo"} is_a: MONDO:0016879 {source="Orphanet:261965"} ! partial deletion of chromosome 17 property_value: exactMatch http://identifiers.org/mesh/C538045 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN036220 property_value: exactMatch Orphanet:261965 property_value: excluded_subClassOf MONDO:0008434 {source="MESH:C538045"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI property_value: relatedMatch NCIT:C36499 [Term] id: MONDO:0022756 name: chromosome 1q deletion def: "Chromosome 1q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on thelong arm (q) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0008669] subset: disease_grouping subset: gard_rare subset: ordo_group_of_disorders {source="Orphanet:262001"} synonym: "1q deletion" RELATED [GARD:0008669] synonym: "1q monosomy" RELATED [GARD:0008669] synonym: "deletion 1q" RELATED [GARD:0008669] synonym: "monosomy 1q" RELATED [GARD:0008669] synonym: "partial deletion of chromosome 1q" EXACT [Orphanet:262001] synonym: "partial deletion of the long arm of chromosome 1" EXACT [MONDO:0016900] synonym: "partial deletion of the long arm of chromosome type 1" EXACT [MONDORULE:1, Orphanet:262001] synonym: "partial monosomy 1q" RELATED [GARD:0008669] synonym: "partial monosomy of chromosome 1q" EXACT [Orphanet:262001] synonym: "partial monosomy of the long arm of chromosome 1" EXACT [Orphanet:262001] xref: Orphanet:262001 {source="MONDO:equivalentTo"} xref: UMLS:CN072190 {source="MONDO:equivalentTo"} is_a: MONDO:0016866 {source="Orphanet:262001"} ! partial deletion of chromosome 1 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN072190 property_value: exactMatch Orphanet:262001 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8669/chromosome-1q-deletion xsd:anyURI {source="GARD:0008669"} [Term] id: MONDO:0022757 name: chromosome 20 trisomy def: "Chromosome 20 trisomy, (also called trisomy 20) is a condition in which a fetus or individual has an extra full or partial copy of chromosome 20 in some or allof of his/her cells. An extra full copy of chromosome 20 in all of a person's cells is rare, and almost all fetuses with this do not survive past the first trimester ofpregnancy. The presence of an extra copyof only part of chromosome 20 is called partial trisomy 20; and an extra copy of chromosome 20 in only some of a person's cells is called mosaic trisomy 20. Mosaic trisomy 20 is the most common type of chromosome 20 trisomy and is one of the more common chromosomal abnormalities found during prenatal diagnostic testing. Studies have shown that the child is normal in the vast majority of prenatally diagnosed individuals. However, features that have been reported include spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis), hypotonia (decreased muscle tone), life long constipation, sloped shoulders, and significant learning disabilities despite normal intelligence. Trisomy 20 usually results from an error that occurs when an egg or sperm cell develops (before fertilization); mosaic trisomy 20 usually results from errors in cell division soon after fertilization." [GARD:0005332] subset: gard_rare synonym: "mosaic trisomy 20" RELATED [GARD:0005332] synonym: "trisomy 20" RELATED [GARD:0005332] synonym: "trisomy 20 mosaicism" RELATED [GARD:0005332] synonym: "trisomy chromosome 20" RELATED [GARD:0005332] xref: MESH:C535372 {source="MONDO:equivalentTo"} xref: NCIT:C36397 {source="MONDO:relatedTo"} xref: UMLS:C0265479 {source="MONDO:equivalentTo", source="GARD:0005332"} is_a: MONDO:0700025 ! chromosome 20 disorder is_a: MONDO:0700065 ! trisomy property_value: exactMatch http://identifiers.org/mesh/C535372 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265479 property_value: relatedMatch NCIT:C36397 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5332/chromosome-20-trisomy xsd:anyURI {source="GARD:0005332"} [Term] id: MONDO:0022759 name: trisomy 22 def: "Trisomy 22 is a chromosome disorder in which an extra (third) copy of chromosome 22 is present in every cell of the body where there should normally only be two copies. This condition is commonly found in miscarriages, but only rarely in liveborn infants. Most affected individuals die shortly before or shortly after birth due to severe complications. Common features include an underdeveloped midface (midface hypoplasia)with flat/broad nasal bridge, malformed ears with pits or tags, cleft palate, hypertelorism (wide-spaced eyes), microcephaly and other cranial abnormalities, congenital heart disease, genital abnormalities, and intrauterine growth restriction (IUGR)." [GARD:0005335] subset: gard_rare synonym: "chromosome 22 trisomy" RELATED [GARD:0005335] xref: MESH:C536799 {source="MONDO:equivalentTo"} xref: SCTID:205655003 {source="MONDO:equivalentTo"} xref: UMLS:C0265490 {source="GARD:0005335", source="MONDO:equivalentTo"} is_a: MONDO:0700026 ! chromosome 22 disorder is_a: MONDO:0700065 ! trisomy property_value: exactMatch http://identifiers.org/mesh/C536799 property_value: exactMatch http://identifiers.org/snomedct/205655003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265490 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5335/trisomy-22 xsd:anyURI {source="GARD:0005335"} [Term] id: MONDO:0022760 name: chromosome 22q deletion subset: disease_grouping subset: gard_rare synonym: "22q deletion" EXACT [GARD:0008668] synonym: "22q monosomy" EXACT [GARD:0008668] synonym: "deletion 22q" EXACT [GARD:0008668] synonym: "monosomy 22q" EXACT [GARD:0008668] synonym: "partial deletion of chromosome 22q" EXACT [Orphanet:262182] synonym: "partial deletion of the long arm of chromosome 22" EXACT [MONDO:0016920] synonym: "partial deletion of the long arm of chromosome type 22" EXACT [MONDORULE:2, Orphanet:262182] synonym: "partial monosomy 22q" EXACT [GARD:0008668] synonym: "partial monosomy of chromosome 22q" EXACT [Orphanet:262182] synonym: "partial monosomy of the long arm of chromosome 22" EXACT [Orphanet:262182] xref: Orphanet:262182 {source="MONDO:equivalentTo"} is_a: MONDO:0000761 ! syndrome caused by partial chromosomal deletion property_value: exactMatch Orphanet:262182 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8668/chromosome-22q-deletion xsd:anyURI {source="GARD:0008668"} [Term] id: MONDO:0022762 name: chromosome 4 short arm deletion subset: disease_grouping synonym: "4p deletion" EXACT [GARD:0006090] synonym: "4p monosomy" EXACT [GARD:0006090] synonym: "chromosome 4p deletion" EXACT [MESH:C537637] synonym: "deletion 4p" EXACT [MESH:C537637] synonym: "monosomy 4p" EXACT [MESH:C537637] synonym: "partial deletion of chromosome 4p" EXACT [Orphanet:261884] synonym: "partial deletion of the short arm of chromosome 4" EXACT [MONDO:0016886] synonym: "partial deletion of the short arm of chromosome type 4" EXACT [MONDORULE:1, Orphanet:261884] synonym: "partial monosomy 4p" EXACT [GARD:0006090] synonym: "partial monosomy of chromosome 4p" EXACT [Orphanet:261884] synonym: "partial monosomy of the short arm of chromosome 4" EXACT [Orphanet:261884] xref: ICD10CM:Q93.3 {source="MONDO:equivalentTo", source="Orphanet:261884/specific", source="Orphanet:261884", source="Orphanet:261884/e"} xref: MESH:C537637 {source="MONDO:equivalentTo"} xref: Orphanet:261884 {source="MONDO:equivalentTo"} is_a: MONDO:0016869 {source="Orphanet:261884"} ! partial deletion of chromosome 4 property_value: exactMatch http://identifiers.org/mesh/C537637 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q93.3 property_value: exactMatch Orphanet:261884 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3664 xsd:anyURI [Term] id: MONDO:0022770 name: circumscribed cutaneous aplasia of the vertex subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1365/circumscribed-cutaneous-aplasia-of-the-vertex xsd:anyURI {source="GARD:0001365"} [Term] id: MONDO:0022800 name: type 2 collagenopathy def: "Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene." [MONDO:patterns/disease_series_by_gene] subset: disease_grouping subset: gard_rare subset: ordo_group_of_disorders {source="Orphanet:93421"} synonym: "cartilage collagen" RELATED [GARD:0009246] synonym: "COL2A1" RELATED ABBREVIATION [GARD:0009246] synonym: "COL2A1 disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "collagen II" RELATED [GARD:0009246] synonym: "collagenopathy type 2 alpha 1" EXACT [https://orcid.org/0000-0001-8612-1062] synonym: "disease or disorder caused by mutation in COL2A1" EXACT [MONDO:patterns/disease_series_by_gene] xref: HGNC:2200 {source="GARD:0009246"} xref: MESH:C535964 {source="MONDO:equivalentTo"} xref: Orphanet:93421 {source="MONDO:equivalentTo"} xref: UMLS:C2931073 {source="MONDO:equivalentTo", source="GARD:0009246"} xref: UMLS:CN227672 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease is_a: MONDO:0004603 ! collagenopathy is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia is_a: MONDO:0023603 ! hereditary disorder of connective tissue property_value: exactMatch http://identifiers.org/mesh/C535964 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931073 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227672 property_value: exactMatch Orphanet:93421 property_value: excluded_subClassOf MONDO:0005381 {source="Orphanet:93421"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3574 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3698 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9246/collagenopathy-type-2-alpha-1 xsd:anyURI {source="GARD:0009246"} [Term] id: MONDO:0022880 name: obsolete corticobasal degeneration property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5085 xsd:anyURI is_obsolete: true replaced_by: MONDO:0022308 [Term] id: MONDO:0022963 name: desmoplastic infantile astrocytoma def: "A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population consisting mainly of neoplastic astrocytes. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO)" [NCIT:C9476] subset: gard_rare synonym: "Desmoplastic astrocytoma of infancy" EXACT [NCIT:C9476] synonym: "Desmoplastic infantile astrocytoma" EXACT [NCIT:C9476] synonym: "DIA" EXACT ABBREVIATION [GARD:0009617, NCIT:C9476, ONCOTREE:DIA] xref: ICDO:9412/1 {source="NCIT:C9476"} xref: NCIT:C9476 {source="MONDO:equivalentTo"} xref: ONCOTREE:DIA {source="MONDO:equivalentTo"} xref: UMLS:C0457179 {source="NCIT:C9476", source="GARD:0009617", source="MONDO:equivalentTo"} is_a: MONDO:0016729 {source="NCIT:C9476"} ! mixed neuronal-glial tumor relationship: disease_has_feature MONDO:0004897 {source="NCIT:C9476"} ! hypotropia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0457179 property_value: exactMatch NCIT:C9476 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9617/desmoplastic-infantile-astrocytoma xsd:anyURI {source="GARD:0009617"} [Term] id: MONDO:0022965 name: desmoplastic infantile ganglioglioma def: "A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population of neoplastic astrocytes together with a variable neuronal component. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as a large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO)" [NCIT:C4738] subset: gard_rare synonym: "Desmoplastic infantile ganglioglioma" EXACT [NCIT:C4738] synonym: "DIG" EXACT ABBREVIATION [GARD:0008648, NCIT:C4738, ONCOTREE:DIG] xref: DOID:0081259 {source="MONDO:equivalentTo"} xref: NCIT:C4738 {source="MONDO:equivalentTo"} xref: ONCOTREE:DIG {source="MONDO:equivalentTo"} xref: UMLS:C1321878 {source="NCIT:C4738", source="GARD:0008648", source="MONDO:equivalentTo"} is_a: MONDO:0016729 {source="NCIT:C4738"} ! mixed neuronal-glial tumor relationship: disease_has_feature MONDO:0004897 {source="NCIT:C4738"} ! hypotropia property_value: exactMatch DOID:0081259 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1321878 property_value: exactMatch NCIT:C4738 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8648/desmoplastic-infantile-ganglioglioma xsd:anyURI {source="GARD:0008648"} [Term] id: MONDO:0023069 name: enlarged vestibular aqueduct syndrome subset: gard_rare synonym: "enlarged vestibular aqueduct" RELATED [DOID:0050332] synonym: "enlarged vestibular aqueduct syndrome" EXACT [] synonym: "large vestibular aqueduct syndrome" RELATED [GARD:0008651] xref: DOID:0050332 {source="MONDO:equivalentTo"} is_a: EFO:0009672 ! inner ear disease is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease is_a: MONDO:0024654 ! skull disorder property_value: exactMatch DOID:0050332 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8651/enlarged-vestibular-aqueduct-syndrome xsd:anyURI {source="GARD:0008651"} [Term] id: MONDO:0023113 name: familial colorectal cancer def: "Familial colon cancer is a cluster of colon cancer within a family. Most cases of colon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes (mutations) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories." [GARD:0008533] subset: gard_rare synonym: "colorectal cancer, familial" RELATED [GARD:0008533] synonym: "hereditary colorectal cancer" EXACT [MONDO:patterns/hereditary] xref: UMLS:CN029768 {source="MONDO:equivalentTo"} is_a: MONDO:0005575 ! colorectal cancer is_a: MONDO:0017128 ! inherited digestive tract tumor intersection_of: MONDO:0005575 ! colorectal cancer intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN029768 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8533/familial-colorectal-cancer xsd:anyURI {source="GARD:0008533"} [Term] id: MONDO:0023122 name: familial prostate carcinoma def: "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." [NCIT:C103817] subset: gard_rare synonym: "familial prostate cancer" EXACT [GTR:AN0101368] synonym: "hereditary prostate cancer" EXACT [GTR:AN0101369, MONDO:patterns/hereditary, NCIT:C103817] synonym: "hereditary prostate carcinoma" EXACT [NCIT:C103817] synonym: "prostate cancer, autosomal dominant, somatic mutation" EXACT [OMIM:176807, OMIM:genemap2] synonym: "prostate cancer, familial" RELATED [GARD:0004520] synonym: "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation" EXACT [OMIM:176807, OMIM:genemap2] synonym: "prostate cancer, hereditary" RELATED [GARD:0004520] synonym: "prostate cancer, somatic" EXACT [OMIM:176807, OMIM:genemap2] synonym: "prostate cancer, susceptibility to, autosomal dominant, somatic mutation" EXACT [OMIM:176807, OMIM:genemap2] xref: GTR:AN0101368 xref: GTR:AN0101369 xref: NCIT:C103817 {source="MONDO:equivalentTo"} xref: OMIM:176807 {source="Orphanet:1331/ntbt", source="Orphanet:1331", source="MONDO:equivalentTo", source="DOID:10283"} xref: Orphanet:1331 {source="GARD:0004520", source="MONDO:equivalentTo", source="OMIM:176807", source="DOID:10283"} xref: SCTID:715412008 {source="MONDO:equivalentTo"} xref: UMLS:C2931456 {source="GARD:0004520", source="MONDO:equivalentTo"} xref: UMLS:CN036094 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0001663 {source="NCIT:C103817"} ! prostate carcinoma intersection_of: EFO:0001663 ! prostate carcinoma intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/snomedct/715412008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931456 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN036094 property_value: exactMatch https://omim.org/entry/176807 property_value: exactMatch NCIT:C103817 property_value: exactMatch Orphanet:1331 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4882 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4520/familial-prostate-cancer xsd:anyURI {source="GARD:0004520"} [Term] id: MONDO:0023149 name: infection due to clostridium perfringens subset: gard_rare synonym: "C. perfringens infection" RELATED [GARD:0011970] synonym: "Clostridium perfringens Infection" RELATED [MESH:D003015] synonym: "Clostridium perfringens infection" RELATED [UMLS:C0275619] synonym: "Clostridium perfringens Infections" RELATED [MESH:D003015] synonym: "Infection caused by Clostridium perfringens" RELATED [UMLS:C0275619] synonym: "Infection due to Clostridium perfringens" RELATED [UMLS:C0275619] synonym: "Infection, Clostridium perfringens" RELATED [MESH:D003015] synonym: "Infections, Clostridium perfringens" RELATED [MESH:D003015] xref: SCTID:65154009 {source="UMLS:C0275619", source="MONDO:equivalentTo"} xref: UMLS:C0275619 {source="MONDO:equivalentTo"} is_a: EFO:1000874 ! commensal Clostridium infectious disease relationship: has_characteristic MONDO:0021136 {source="GARD:0011970"} ! rare property_value: exactMatch http://identifiers.org/snomedct/65154009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0275619 [Term] id: MONDO:0023154 name: fibromatosis multiple non ossifying subset: gard_rare synonym: "disseminated nonossifying fibromas in association with cafe-au-lait spots" RELATED [GARD:0000309] synonym: "Jaffe Campanacci syndrome" RELATED [GARD:0000309] xref: SCTID:715432009 {source="MONDO:equivalentTo"} xref: UMLS:C0796000 {source="MONDO:equivalentTo", source="GARD:0000309"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: exactMatch http://identifiers.org/snomedct/715432009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796000 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/309/fibromatosis-multiple-non-ossifying xsd:anyURI {source="GARD:0000309"} [Term] id: MONDO:0023206 name: functional pancreatic neuroendocrine tumor def: "A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of a clinical syndrome that results from hormone hypersecretion." [NCIT:C45840] subset: disease_grouping subset: gard_rare subset: ordo_group_of_disorders synonym: "functional pancreatic NET" EXACT [NCIT:C45840] synonym: "functional pancreatic neuroendocrine tumor" EXACT [NCIT:C45840] synonym: "functioning neuroendocrine tumor of pancreas" RELATED [Orphanet:506060] synonym: "functioning neuroendocrine tumour of pancreas" RELATED OMO:0003005 [] synonym: "functioning pancreatic endocrine tumor" EXACT [NCIT:C45840] synonym: "functioning pancreatic endocrine tumour" EXACT OMO:0003005 [] synonym: "functioning pancreatic NET" EXACT [NCIT:C45840, Orphanet:506060] synonym: "functioning pancreatic neuroendocrine tumor" EXACT [NCIT:C45840, Orphanet:506060] synonym: "functioning pancreatic neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "functioning PNET" EXACT [Orphanet:506060] synonym: "functioning well differentiated pancreatic endocrine neoplasm" EXACT [NCIT:C45840] synonym: "functioning well differentiated pancreatic endocrine tumor" EXACT [NCIT:C45840] synonym: "functioning well differentiated pancreatic endocrine tumour" EXACT OMO:0003005 [] synonym: "functioning well-differentiated NEN of pancreas" EXACT [Orphanet:506060] synonym: "functioning well-differentiated neuroendocrine neoplasm of pancreas" EXACT [Orphanet:506060] synonym: "functioning well-differentiated pancreatic NEN" EXACT [Orphanet:506060] synonym: "functioning well-differentiated pancreatic neuroendocrine neoplasm" EXACT [Orphanet:506060] synonym: "syndromic pancreatic NET" EXACT [NCIT:C45840] synonym: "syndromic pancreatic neuroendocrine tumor" EXACT [NCIT:C45840] synonym: "syndromic pancreatic neuroendocrine tumour" EXACT OMO:0003005 [] xref: NCIT:C45840 {source="MONDO:equivalentTo"} xref: Orphanet:506060 {source="MONDO:equivalentTo"} xref: UMLS:C1708107 {source="MONDO:equivalentTo", source="NCIT:C45840"} is_a: EFO:1000045 {source="MONDO:Redundant", source="NCIT:C45840", source="Orphanet:506060"} ! pancreatic neuroendocrine tumor is_a: MONDO:0021120 {source="MONDO:Redundant", source="NCIT:C45840"} ! functioning endocrine neoplasm intersection_of: EFO:1000045 {source="NCIT:C45840"} ! pancreatic neuroendocrine tumor intersection_of: MONDO:0021120 {source="NCIT:C45840"} ! functioning endocrine neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1708107 property_value: exactMatch NCIT:C45840 property_value: exactMatch Orphanet:506060 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2414/functioning-pancreatic-endocrine-tumor xsd:anyURI {source="GARD:0002414"} [Term] id: MONDO:0023224 name: inherited reflex epilepsy def: "An instance of reflex epilepsy that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: gard_rare synonym: "hereditary reflex epilepsy" EXACT [MONDO:patterns/hereditary] is_a: EFO:1001146 ! reflex epilepsy is_a: MONDO:0015653 ! monogenic epilepsy intersection_of: EFO:1001146 ! reflex epilepsy intersection_of: has_characteristic MONDO:0021152 ! inherited [Term] id: MONDO:0023243 name: glass-chapman-hockley syndrome def: "The Glass-Chapman-Hockley syndrome is a very rare disease. To date, the syndrome has only been reported in one family with five members affected in three generations. The first patients were two brothers that had an abnormally-shaped head due to coronal craniosynostosis. Their mother, maternal aunt, and maternal grandmother were also found to have the syndrome. The signs and symptoms varied from person to person; however, the signs and symptoms included coronal craniosynostosis, small middle part of the face (midfacial hypoplasia), and short fingers (brachydactyly).The inheritance is thought to be autosomal dominant. No genes have been identified for this syndrome. Treatment included surgery to correct the craniosynostosis. No issues with development and normal intelligence were reported. This is an n-of-1 use case where only one patient or family has been described with this disorder." [GARD:0002479] subset: gard_rare subset: n_of_one synonym: "craniosynostosis - dysmorphism - brachydactyly" RELATED [GARD:0002479] synonym: "craniosynostosis brachydactyly" RELATED [GARD:0002479] synonym: "craniosynostosis with facial dysmorphism and brachydactyly syndrome" EXACT [] synonym: "craniosynostosis-dysmorphism-brachydactyly syndrome" RELATED [GARD:0002479] synonym: "glass chapman hockley syndrome" RELATED [] xref: Orphanet:1535 {source="GARD:0002479", source="MONDO:equivalentObsolete"} xref: SCTID:720814001 {source="MONDO:equivalentTo"} xref: UMLS:C4303810 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0015469 {source="Orphanet:1535/inferred"} ! craniosynostosis property_value: exactMatch http://identifiers.org/snomedct/720814001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303810 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2479/glass-chapman-hockley-syndrome xsd:anyURI {source="GARD:0002479"} [Term] id: MONDO:0023258 name: glycogen storage disease type 1 due to SLC37A4 mutation def: "Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene." [MONDO:patterns/disease_series_by_gene] comment: This class may be deprecated in future. There are two types of GSDI: glycogen storage disease type Ia (GSDIa) and glycogen storage disease type Ib (GSDIb). Two other forms of GSDI have been described, and they were originally named types Ic and Id. However, these types are now known to be variations of GSDIb; for this reason, GSDIb is sometimes called GSD type I non-a. https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-i subset: gard_rare synonym: "G6P translocase deficiency" BROAD [GARD:0002501] synonym: "glucose-6-phosphate translocase deficiency" EXACT [GARD:0002501] synonym: "glycogen storage disease I caused by mutation in SLC37A4" EXACT [MONDO:design_pattern] synonym: "SLC37A4 glycogen storage disease I" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: HGNC:4061 {source="GARD:0002501"} xref: MESH:C536831 {source="MONDO:equivalentTo"} xref: UMLS:C2931345 {source="GARD:0002501", source="MONDO:equivalentTo"} is_a: MONDO:0002413 {source="MESH:C536831", source="MONDO:Entailed", source="MONDO:Redundant"} ! glycogen storage disease I property_value: exactMatch http://identifiers.org/mesh/C536831 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931345 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2501/glucose-6-phosphate-translocase-deficiency xsd:anyURI {source="GARD:0002501"} [Term] id: MONDO:0023297 name: guttate psoriasis def: "Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body.It is a relatively uncommon form of psoriasis. The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper respiratory infections or other viral infections). Other triggers include injury to the skin, including cuts, burns, and insect bites, certain malarial and heart medications, stress, sunburn, and excessive alcohol consumption. Treatment depends on the severity of the symptoms, ranging from at-home over the counter remedies to medicines that suppress the body's immunesystem to sunlight and phototherapy." [GARD:0010569] subset: gard_rare synonym: "guttate psoriasis" EXACT [] synonym: "psoriasis guttata" RELATED [] synonym: "psoriasis guttate" RELATED [GARD:0010569] xref: ICD10CM:L40.4 {source="MONDO:equivalentTo"} xref: ICD9:696.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:37042000 {source="MONDO:equivalentTo"} xref: UMLS:C0343052 {source="MONDO:equivalentTo", source="GARD:0010569"} is_a: EFO:0000676 {source="ICD10CM:L40.4"} ! psoriasis property_value: exactMatch http://identifiers.org/snomedct/37042000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343052 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L40.4 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10569/guttate-psoriasis xsd:anyURI {source="GARD:0010569"} [Term] id: MONDO:0023369 name: disorder of facial skeleton def: "A disease that involves the facial skeleton." [MONDO:patterns/location] synonym: "disease of facial skeleton" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of facial skeleton" EXACT [] synonym: "disorder of facial skeleton" EXACT [MONDO:patterns/location_top] synonym: "facial skeleton disease" EXACT [MONDO:patterns/location] synonym: "facial skeleton disease or disorder" EXACT [MONDO:patterns/location] synonym: "maxillo-facial disease" EXACT [MONDO:cjm] synonym: "maxillofacial anomaly" EXACT [MONDO:cjm] is_a: MONDO:0024654 ! skull disorder [Term] id: MONDO:0023370 name: neoplastic disease or syndrome def: "Either an isolated neoplasm or a syndrome with neoplasm as a major feature." [MONDO:cjm] synonym: "neoplastic disease" RELATED [] synonym: "neoplastic disorder" RELATED [] is_a: MONDO:0045024 {source="MONDO:Redundant"} ! cancer or benign tumor union_of: EFO:0000616 ! neoplasm union_of: MONDO:0021058 ! neoplastic syndrome property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0023419 name: hyperprolinemia def: "Hyperprolinemia is when there isan excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms:hyperprolinemia type1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Less commonly, affected individuals can experience seizures, intellectual disability, or other neurological or psychiatric problems. Hyperprolinemia is caused by mutations in the PRODH gene and is inherited in an autosomal recessive pattern." [GARD:0002847] subset: gard_rare synonym: "hyperprolinemia type 1" RELATED [GARD:0002847] synonym: "proline hydrogenase deficiency" RELATED [GARD:0002847] synonym: "proline oxidase deficiency" RELATED [GARD:0002847] xref: DOID:0080541 {source="MONDO:equivalentTo"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:59655002 {source="MONDO:equivalentTo"} xref: UMLS:C0268528 {source="MONDO:equivalentTo"} is_a: MONDO:0017355 {source="MONDO:cjm"} ! inborn disorder of proline metabolism property_value: exactMatch DOID:0080541 property_value: exactMatch http://identifiers.org/snomedct/59655002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268528 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2847/hyperprolinemia xsd:anyURI {source="GARD:0002847"} [Term] id: MONDO:0023557 name: infective vaginitis def: "An infectious process affecting the vagina. Symptoms include pain and purulent discharge." [NCIT:C84353] synonym: "Infective vaginitis" RELATED [UMLS:C0404521] synonym: "PV - Vaginal infection" RELATED [UMLS:C0404521] synonym: "Vaginal Infection" RELATED [NCIT:C84353] synonym: "Vaginal infection" RELATED [UMLS:C0404521] synonym: "vaginal infection" EXACT [NCIT:C84353] xref: NCIT:C84353 {source="UMLS:C0404521", source="MONDO:equivalentTo"} xref: SCTID:237091009 {source="UMLS:C0404521", source="MONDO:equivalentTo"} xref: UMLS:C0404521 {source="MONDO:equivalentTo"} is_a: EFO:0005741 ! infectious disease is_a: MONDO:0002234 {source="NCIT:C84353", source="UMLS:C0404521"} ! vaginitis property_value: exactMatch http://identifiers.org/snomedct/237091009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0404521 property_value: exactMatch NCIT:C84353 [Term] id: MONDO:0023603 name: hereditary disorder of connective tissue def: "An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome." [NCIT:C97075] synonym: "connective tissue hereditary disorder" EXACT [NCIT:C97075, UMLS:C0410787] synonym: "Hereditary Connective Tissue Disorder" RELATED [NCIT:C97075] synonym: "hereditary connective tissue disorder" EXACT [NCIT:C97075] synonym: "Inherited disorder of connective tissue" RELATED [UMLS:C0410787] synonym: "inherited disorder of connective tissue" RELATED [] synonym: "Mendelian connective tissue disorder" EXACT [https://orcid.org/0000-0002-0736-9199] xref: NCIT:C97075 {source="MONDO:equivalentTo", source="UMLS:C0410787"} xref: SCTID:363045008 {source="MONDO:equivalentTo", source="UMLS:C0410787"} xref: UMLS:C0410787 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: EFO:1001986 {source="NCIT:C97075", source="UMLS:C0410787"} ! connective tissue disease intersection_of: EFO:1001986 ! connective tissue disease intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/snomedct/363045008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0410787 property_value: exactMatch NCIT:C97075 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3606 xsd:anyURI [Term] id: MONDO:0023619 name: lentigo maligna melanoma def: "Lentigo maligna melanoma (LMM) is a type of skin cancer that usually develops in older, fair-skinnedadults. The average age of diagnosis is65. LMM is thought to be caused by a history of sun exposure to the affected area. Treatment includes surgery to remove as much of the LMM as possible." [GARD:0009962] subset: gard_rare synonym: "Hutchison melanotic freckle" RELATED [GARD:0009962] synonym: "lentigo maligna melanoma" EXACT [NCIT:C9151] synonym: "LMM" RELATED ABBREVIATION [GARD:0009962] synonym: "malignant lentigo melanoma" EXACT [NCIT:C9151] synonym: "SKLMM" RELATED ABBREVIATION [ONCOTREE:SKLMM] xref: ICD9:172.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8742/3 {source="NCIT:C9151"} xref: NCIT:C9151 {source="MONDO:equivalentTo"} xref: ONCOTREE:SKLMM {source="MONDO:equivalentTo"} xref: SCTID:302837001 {source="MONDO:equivalentTo"} xref: UMLS:C2739810 {source="MONDO:equivalentTo", source="NCIT:C9151"} is_a: EFO:0000389 {source="NCIT:C9151"} ! cutaneous melanoma property_value: exactMatch http://identifiers.org/snomedct/302837001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2739810 property_value: exactMatch NCIT:C9151 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9962/lentigo-maligna-melanoma xsd:anyURI {source="GARD:0009962"} [Term] id: MONDO:0023644 name: lip and oral cavity carcinoma def: "A carcinoma arising in the lip or oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma. Lip carcinomas are usually basal cell or squamous cell carcinomas." [NCIT:C9315] subset: gard_rare synonym: "lip and oral cavity cancer" EXACT [NCIT:C9315] synonym: "lip and oral cavity carcinoma" EXACT [NCIT:C9315] synonym: "oral cancer" EXACT [NCIT:C9315] synonym: "oral carcinoma" EXACT [NCIT:C9315] xref: NCIT:C9315 {source="MONDO:equivalentTo"} xref: UMLS:C0220641 {source="MONDO:equivalentTo", source="NCIT:C9315", source="GARD:0009342"} is_a: MONDO:0002038 {source="NCIT:C9315"} ! head and neck carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220641 property_value: exactMatch NCIT:C9315 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9342/lip-and-oral-cavity-cancer xsd:anyURI {source="GARD:0009342"} [Term] id: MONDO:0023670 name: Bardet-Biedl syndrome 20 synonym: "BBS20" EXACT ABBREVIATION [OMIM:619471] xref: DOID:0081009 {source="MONDO:equivalentTo"} xref: OMIM:619471 {source="MONDO:equivalentTo"} is_a: MONDO:0015229 {source="OMIM:619471"} ! Bardet-Biedl syndrome property_value: exactMatch DOID:0081009 property_value: exactMatch https://omim.org/entry/619471 [Term] id: MONDO:0023691 name: maple syrup urine disease type 1A def: "A maple syrup urine disease caused by mutations in BCKDHA." [MONDO:cjm] subset: gard_rare synonym: "maple syrup urine disease type 1A" EXACT [] synonym: "MSUD type 1A" RELATED [GARD:0008594] is_a: MONDO:0009563 {source="https://orcid.org/0000-0001-5208-3432"} ! maple syrup urine disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8594/maple-syrup-urine-disease-type-1a xsd:anyURI {source="GARD:0008594"} [Term] id: MONDO:0023692 name: maple syrup urine disease type 1B def: "A maple syrup urine disease caused by mutations in BCKDHB." [MONDO:cjm] subset: gard_rare synonym: "maple syrup urine disease type 1B" EXACT [] synonym: "MSUD due to deficiency of E1-beta subunit of branched-chain alpha-keto acid dehydrogenase complex" RELATED [GARD:0008597] synonym: "MSUD type 3 (formerly)" RELATED [GARD:0008597] synonym: "MSUD type IB" RELATED [GARD:0008597] is_a: MONDO:0009563 {source="https://orcid.org/0000-0001-5208-3432"} ! maple syrup urine disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8597/maple-syrup-urine-disease-type-1b xsd:anyURI {source="GARD:0008597"} [Term] id: MONDO:0023726 name: mediastinal yolk sac tumor def: "An extragonadal non-seminomatous malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of small pale cells with small amount of cytoplasm and round to oval nuclei with small nucleoli forming a variety of patterns, including microcystic, macrocystic, pseudopapillary, myxomatous, hepatoid, polyvesicular vitelline, and solid. It manifests with respiratory distress, thoracic pain, fever, and superior vena cava syndrome." [NCIT:C6443] synonym: "endodermal sinus neoplasm of mediastinum" EXACT [NCIT:C6443] synonym: "endodermal sinus neoplasm of the mediastinum" EXACT [NCIT:C6443] synonym: "endodermal sinus tumor of mediastinum" EXACT [NCIT:C6443] synonym: "endodermal sinus tumor of the mediastinum" EXACT [NCIT:C6443] synonym: "endodermal sinus tumour of mediastinum" EXACT OMO:0003005 [] synonym: "endodermal sinus tumour of the mediastinum" EXACT OMO:0003005 [] synonym: "EST" RELATED ABBREVIATION [GARD:0008258] synonym: "mediastinal endodermal sinus neoplasm" EXACT [NCIT:C6443] synonym: "mediastinal endodermal sinus tumor" EXACT [NCIT:C6443] synonym: "mediastinal endodermal sinus tumors" RELATED [GARD:0008258] synonym: "mediastinal endodermal sinus tumour" EXACT OMO:0003005 [] synonym: "mediastinal endodermal sinus tumours" RELATED OMO:0003005 [] synonym: "mediastinal yolk Sac neoplasm" EXACT [NCIT:C6443] synonym: "mediastinal yolk Sac tumor" EXACT [NCIT:C6443] synonym: "mediastinal yolk Sac tumour" EXACT OMO:0003005 [] synonym: "mediastinum yolk sac tumor" EXACT [MONDO:patterns/location] synonym: "mediastinum yolk sac tumour" EXACT OMO:0003005 [] synonym: "yolk Sac neoplasm of mediastinum" EXACT [NCIT:C6443] synonym: "yolk Sac neoplasm of the mediastinum" EXACT [NCIT:C6443] synonym: "yolk Sac tumor of mediastinum" EXACT [NCIT:C6443] synonym: "yolk Sac tumor of the mediastinum" EXACT [NCIT:C6443] synonym: "yolk Sac tumour of mediastinum" EXACT OMO:0003005 [] synonym: "yolk Sac tumour of the mediastinum" EXACT OMO:0003005 [] xref: NCIT:C6443 {source="MONDO:equivalentTo"} xref: UMLS:C1334683 {source="NCIT:C6443", source="MONDO:equivalentTo"} is_a: EFO:0007252 {source="MONDO:Redundant", source="NCIT:C6443"} ! endodermal sinus tumor is_a: EFO:1000366 {source="MONDO:Redundant", source="NCIT:C6443/inferred"} ! Mediastinal Malignant Germ Cell Tumor property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334683 property_value: exactMatch NCIT:C6443 [Term] id: MONDO:0023757 name: meralgia paresthetica def: "Meralgia paresthetica is a condition characterized by tingling, numbness and burning pain in the outer thigh. These symptoms may become worse after walking or standing. The condition generally only affects one side of the body, although both sides may be involved in up to 20% of cases. Meralgia paresthetica is caused by compression of the lateral femoral cutaneous nerve (a sensory nerve to the skin on the outer thigh). This may be associated with a variety of causes such as tight clothing, obesity, and/or pregnancy. Treatment is based on the signs and symptoms present in each person and may include medications to manage pain. In most cases, conservative treatment by wearing looser clothing and/or losing weight generally resolves symptoms." [GARD:0009417] subset: gard_rare synonym: "bernhardt's paresthesia" RELATED [] synonym: "bernhardt-rot syndrome" RELATED [] synonym: "Bernhardt-Roth syndrome" RELATED [GARD:0009417, MESH:C537458] synonym: "compression of lateral cutaneous femoral nerve of thigh" RELATED [] synonym: "entrapment of lateral cutaneous nerve of thigh" RELATED [] synonym: "lateral cutaneous femoral nerve of thigh syndrome" RELATED [] synonym: "lateral femoral cutaneous nerve entrapment" RELATED [GARD:0009417, MESH:C537458] synonym: "meralgia paraesthetica familial (type)" RELATED [GARD:0009417] xref: ICD9:355.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:C537458 {source="MONDO:equivalentTo"} xref: SCTID:85007004 {source="MONDO:equivalentTo"} xref: UMLS:C0152110 {source="GARD:0009417", source="MONDO:equivalentTo"} is_a: EFO:0009487 {source="MESH:C537458"} ! nerve compression syndrome property_value: exactMatch http://identifiers.org/mesh/C537458 property_value: exactMatch http://identifiers.org/snomedct/85007004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152110 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9417/meralgia-paresthetica xsd:anyURI {source="GARD:0009417"} [Term] id: MONDO:0023865 name: corneal infection def: "A viral or bacterial infectious process affecting the cornea. Symptoms include pain and redness in the eye, photophobia and eye watering." [NCIT:C83813] subset: disease_grouping subset: ordo_group_of_disorders synonym: "corneal infection" EXACT [NCIT:C83813, UMLS:C0729777] synonym: "infection of cornea" EXACT [UMLS:C0729777] synonym: "infective keratitis" EXACT [MONDO:cjm] synonym: "keratitis caused by infection" EXACT [MONDO:cjm] xref: NCIT:C83813 {source="UMLS:C0729777", source="MONDO:equivalentTo"} xref: Orphanet:519278 {source="MONDO:equivalentTo"} xref: SCTID:312428002 {source="UMLS:C0729777", source="MONDO:equivalentTo"} xref: UMLS:C0729777 {source="MONDO:equivalentTo"} is_a: EFO:0009449 {source="NCIT:C83813"} ! keratitis is_a: MONDO:0016047 ! endophthalmitis property_value: exactMatch http://identifiers.org/snomedct/312428002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0729777 property_value: exactMatch NCIT:C83813 property_value: exactMatch Orphanet:519278 [Term] id: MONDO:0023868 name: melanoma associated retinopathy def: "Melanoma-associated retinopathy (MAR) is a rare autoimmune condition that occurs in some people with melanoma (a type of skin cancer) and can affect the vision." [GARD:0012041] subset: gard_rare synonym: "Melanoma Associated Retinopathy" RELATED [MESH:D059545] synonym: "Melanoma associated retinopathy" RELATED [UMLS:C0730308] synonym: "Melanoma-Associated Retinopathies" RELATED [MESH:D059545] synonym: "Melanoma-Associated Retinopathy" RELATED [MESH:D059545] synonym: "Melanoma-associated retinopathy" RELATED [UMLS:C0730308] synonym: "Retinopathies, Melanoma-Associated" RELATED [MESH:D059545] synonym: "Retinopathy, Melanoma-Associated" RELATED [MESH:D059545] xref: SCTID:312941005 {source="MONDO:equivalentTo", source="UMLS:C0730308"} xref: UMLS:C0730308 {source="MONDO:equivalentTo"} is_a: EFO:0003839 ! retinopathy intersection_of: EFO:0003839 ! retinopathy intersection_of: disease_arises_from_feature EFO:0000756 ! melanoma relationship: disease_arises_from_feature EFO:0000756 ! melanoma relationship: has_characteristic MONDO:0021136 {source="GARD:0012041"} ! rare property_value: exactMatch http://identifiers.org/snomedct/312941005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0730308 [Term] id: MONDO:0024237 name: inherited neurodegenerative disorder def: "An inherited disorder characterized by progressive degeneration and atrophy of the nervous system." [NCIT:C97073] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:183500"} synonym: "genetic neurodegenerative disease" EXACT [MONDO:0015952, MONDO:patterns/genetic] synonym: "hereditary neurodegenerative disease" EXACT [MONDO:patterns/hereditary] synonym: "hereditary neurodegenerative disorder" EXACT [NCIT:C97073] xref: MESH:D020271 {source="MONDO:equivalentTo"} xref: NCIT:C97073 {source="MONDO:equivalentTo"} xref: Orphanet:183500 {source="MONDO:equivalentTo"} xref: UMLS:C3273225 {source="NCIT:C97073", source="MONDO:equivalentTo"} xref: UMLS:CN200549 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0005772 {source="MESH:D020271", source="MONDO:Redundant", source="NCIT:C97073"} ! neurodegenerative disease intersection_of: EFO:0005772 ! neurodegenerative disease intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/mesh/D020271 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3273225 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200549 property_value: exactMatch NCIT:C97073 property_value: exactMatch Orphanet:183500 property_value: excluded_subClassOf MONDO:0002320 {source="NCIT:C97073"} [Term] id: MONDO:0024239 name: congenital anomaly of cardiovascular system def: "A disease that has its basis in the disruption of cardiovascular system development." [MONDO:patterns/basis_in_disruption_of_process] synonym: "cardiovascular system development disease" EXACT [MONDO:design_pattern] synonym: "congenital Abnormality of the circulatory system" EXACT [NCIT:C35729] synonym: "congenital anomaly of cardiovascular system" EXACT [] synonym: "congenital cardiovascular Abnormality" EXACT [NCIT:C35729] synonym: "congenital cardiovascular anomaly" EXACT [NCIT:C35729] synonym: "congenital cardiovascular disorder" RELATED [] synonym: "disorder of cardiovascular system development" EXACT [MONDO:patterns/basis_in_disruption_of_process] xref: ICD9:747.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:747.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C35729 {source="MONDO:equivalentTo"} xref: SCTID:9904008 {source="MONDO:equivalentTo"} is_a: EFO:0000319 {source="NCIT:C35729/inferred"} ! cardiovascular disease is_a: MONDO:0021147 ! disorder of development or morphogenesis property_value: exactMatch http://identifiers.org/snomedct/9904008 property_value: exactMatch NCIT:C35729 [Term] id: MONDO:0024240 name: eccrine carcinoma def: "An adenocarcinoma with eccrine differentiation arising from the sweat glands. It includes the following subtypes: ductal eccrine adenocarcinoma, papillary eccrine carcinoma, and eccrine porocarcinoma." [NCIT:C27255] synonym: "carcinoma of eccrine sweat gland" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma, eccrine gland, malignant" EXACT [NCIT:C27255] synonym: "eccrine adenocarcinoma" EXACT [DOID:4920, NCIT:C27255] synonym: "eccrine adenocarcinoma (morphologic abnormality)" EXACT [DOID:4920] synonym: "eccrine carcinoma" EXACT [NCIT:C27255] synonym: "eccrine carcinoma of skin" EXACT [] synonym: "eccrine sweat gland adenocarcinoma" EXACT [MONDO:patterns/location] synonym: "eccrine sweat gland carcinoma" EXACT [MONDO:patterns/location] xref: DOID:4920 {source="MONDO:equivalentTo"} xref: ICDO:8413/3 {source="NCIT:C27255"} xref: NCIT:C27255 {source="MONDO:equivalentTo"} xref: SCTID:400173004 {source="MONDO:equivalentTo"} xref: UMLS:C1266066 {source="MONDO:equivalentTo", source="DOID:4920"} xref: UMLS:C1302864 {source="NCIT:C27255", source="MONDO:equivalentTo"} xref: UMLS:C1707878 {source="MONDO:equivalentObsolete"} is_a: EFO:0005553 {source="DOID:4920", source="MONDO:Redundant", source="NCIT:C27255"} ! eccrine sweat gland cancer is_a: EFO:0005591 {source="MONDO:Redundant", source="NCIT:C27255"} ! sweat gland carcinoma property_value: exactMatch DOID:4920 property_value: exactMatch http://identifiers.org/snomedct/400173004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266066 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1302864 property_value: exactMatch NCIT:C27255 [Term] id: MONDO:0024247 name: benign eccrine neoplasm def: "A non-metastasizing eccrine appendage sweat gland neoplasm. Representative examples include hidrocystoma, syringoma, and syringofibroadenoma." [NCIT:C6797] synonym: "benign eccrine neoplasm" EXACT [NCIT:C6797] synonym: "benign eccrine neoplasm of skin" EXACT [NCIT:C6797] synonym: "benign eccrine neoplasm of the skin" EXACT [NCIT:C6797] synonym: "benign eccrine skin neoplasm" EXACT [NCIT:C6797] synonym: "benign eccrine skin tumor" EXACT [NCIT:C6797] synonym: "benign eccrine skin tumour" EXACT OMO:0003005 [] synonym: "benign eccrine sweat gland neoplasm" EXACT [] synonym: "benign eccrine tumor" EXACT [NCIT:C6797] synonym: "benign eccrine tumor of skin" EXACT [NCIT:C6797] synonym: "benign eccrine tumor of the skin" EXACT [NCIT:C6797] synonym: "benign eccrine tumour" EXACT OMO:0003005 [] synonym: "benign eccrine tumour of skin" EXACT OMO:0003005 [] synonym: "benign eccrine tumour of the skin" EXACT OMO:0003005 [] synonym: "benign skin tumor with eccrine differentiation" EXACT [] synonym: "benign skin tumour with eccrine differentiation" EXACT OMO:0003005 [] synonym: "eccrine sweat gland neoplasm, benign" EXACT [MONDO:patterns/benign] xref: NCIT:C6797 {source="MONDO:equivalentTo"} xref: SCTID:254715009 {source="MONDO:equivalentTo"} xref: UMLS:C1332493 {source="MONDO:equivalentTo"} is_a: MONDO:0002090 {source="MONDO:Redundant", source="NCIT:C6797"} ! eccrine sweat gland neoplasm is_a: MONDO:0021489 {source="MONDO:Redundant", source="NCIT:C6797"} ! benign neoplasm of sweat gland property_value: exactMatch http://identifiers.org/snomedct/254715009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332493 property_value: exactMatch NCIT:C6797 [Term] id: MONDO:0024252 name: global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome subset: ordo_malformation_syndrome xref: Orphanet:488613 {source="MONDO:equivalentTo"} is_a: MONDO:0015653 {source="Orphanet:488613"} ! monogenic epilepsy property_value: exactMatch Orphanet:488613 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:488613"} property_value: excluded_subClassOf MONDO:0015368 {source="Orphanet:488613"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0024257 name: hereditary motor neuron disease def: "An instance of motor neuron disease that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: disease_grouping subset: ordo_group_of_disorders synonym: "genetic anterior horn cell disease" EXACT [Orphanet:98505] synonym: "genetic motor neuron disease" EXACT [MONDO:patterns/hereditary] synonym: "hereditary motor neuron disease" EXACT [MONDO:patterns/hereditary] xref: Orphanet:98505 {source="MONDO:equivalentTo"} xref: SCTID:49793008 {source="MONDO:equivalentTo"} xref: UMLS:CN207018 {source="MONDO:equivalentTo"} is_a: EFO:0003782 {source="MONDO:Redundant", source="Orphanet:98505"} ! motor neuron disease is_a: MONDO:0024237 ! inherited neurodegenerative disorder intersection_of: EFO:0003782 ! motor neuron disease intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/snomedct/49793008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207018 property_value: exactMatch Orphanet:98505 [Term] id: MONDO:0024263 name: neonatal aspiration syndrome def: "Aspiration of meconium, blood, amniotic fluid or gastric contents around the time of delivery resulting in clinical symptoms from airway obstruction, parenchymal injury, and ventilation-perfusion mismatch. This may lead to persistent pulmonary hypertension in the newborn." [NCIT:C118312] comment: Editor note: TODO axiomatize using ECTO xref: NCIT:C118312 {source="MONDO:equivalentTo"} xref: SCTID:276533002 {source="MONDO:equivalentTo"} xref: UMLS:C0349468 {source="MONDO:equivalentTo"} is_a: EFO:0003818 {source="MONDO:cjm"} ! lung disease is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: exactMatch http://identifiers.org/snomedct/276533002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349468 property_value: exactMatch NCIT:C118312 [Term] id: MONDO:0024268 name: superficial mycosis def: "A mycosis that is limited to the stratum corneum and essentially elicits no inflammation." [https://www.ncbi.nlm.nih.gov/books/NBK7902/] synonym: "piedra" NARROW [DOID:0050133] synonym: "steroid-modified tinea infection" EXACT [DOID:0050133] synonym: "stratum corneum of epidermis fungal infectious disease" EXACT [MONDO:patterns/location] xref: DOID:0050133 {source="MONDO:equivalentTo"} xref: ICD9:117.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:276206000 {source="DOID:0050133", source="MONDO:equivalentTo"} xref: UMLS:C2980104 {source="DOID:0050133", source="MONDO:equivalentTo"} is_a: MONDO:0000254 ! cutaneous mycosis property_value: exactMatch DOID:0050133 property_value: exactMatch http://identifiers.org/snomedct/276206000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2980104 [Term] id: MONDO:0024271 name: intestinal helminthiasis def: "A parasitic helminthiasis infectious disease that involves the intestine." [MONDO:patterns/location] synonym: "intestine parasitic helminthiasis infectious disease" EXACT [MONDO:patterns/location] xref: MESH:C531698 {source="MONDO:equivalentTo"} xref: SCTID:26249004 {source="MONDO:equivalentTo"} xref: UMLS:C0348287 {source="MONDO:equivalentTo"} is_a: EFO:0009561 {source="MESH:C531698", source="MONDO:Entailed", source="MONDO:Redundant"} ! parasitic intestinal disease is_a: EFO:1001342 {source="MESH:C531698", source="MONDO:Redundant"} ! Helminthiasis property_value: exactMatch http://identifiers.org/mesh/C531698 property_value: exactMatch http://identifiers.org/snomedct/26249004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0348287 [Term] id: MONDO:0024275 name: amebic dysentery def: "Dysentery caused by intestinal amebic infection, chiefly with entamoeba histolytica. This condition may be associated with amebic infection of the liver and other distant sites." [MESH:D004404] subset: gard_rare synonym: "Amebiases, intestinal" RELATED [MESH:D004404] synonym: "amebiasis, intestinal" RELATED [MESH:D004404] synonym: "amebic colitides" RELATED [MESH:D004404] synonym: "amebic colitis" RELATED [MESH:D004404] synonym: "amebic dysenteries" RELATED [MESH:D004404] synonym: "amebic dysentery" EXACT [GARD:0000652, MESH:D004404] synonym: "amoebiases, intestinal" RELATED [MESH:D004404] synonym: "amoebiasis due to Entamoeba histolytica" NARROW [GARD:0000652] synonym: "amoebiasis, intestinal" RELATED [MESH:D004404] synonym: "amoebic Colitides" RELATED [MESH:D004404] synonym: "amoebic colitis" RELATED [MESH:D004404] synonym: "amoebic dysenteries" RELATED [MESH:D004404] synonym: "amoebic dysentery" RELATED [MESH:D004404] synonym: "amoebic dysentery due to Entamoeba histolytica" NARROW [GARD:0000652] synonym: "Colitides, amebic" RELATED [MESH:D004404] synonym: "Colitides, amoebic" RELATED [MESH:D004404] synonym: "colitis, amebic" RELATED [MESH:D004404] synonym: "colitis, amoebic" RELATED [MESH:D004404] synonym: "dysenteries, amebic" RELATED [MESH:D004404] synonym: "dysenteries, amoebic" RELATED [MESH:D004404] synonym: "dysentery, amoebic" RELATED [MESH:D004404] synonym: "Entamoebiases, intestinal" RELATED [MESH:D004404] synonym: "entamoebiasis, intestinal" RELATED [MESH:D004404] synonym: "intestinal Amebiases" RELATED [MESH:D004404] synonym: "intestinal amebiasis" RELATED [GARD:0000652, MESH:D004404] synonym: "intestinal Amoebiases" RELATED [MESH:D004404] synonym: "intestinal amoebiasis" RELATED [MESH:D004404] synonym: "intestinal Entamoebiases" RELATED [MESH:D004404] synonym: "intestinal entamoebiasis" RELATED [MESH:D004404] xref: MESH:D004404 {source="MONDO:equivalentTo"} xref: NCIT:C34558 {source="MONDO:equivalentTo"} is_a: EFO:0007144 {source="MESH:D004404", source="MONDO:Redundant"} ! amebiasis is_a: MONDO:0001955 ! protozoal dysentery intersection_of: EFO:0007144 ! amebiasis intersection_of: EFO:1001869 ! dysentery property_value: exactMatch http://identifiers.org/mesh/D004404 property_value: exactMatch NCIT:C34558 [Term] id: MONDO:0024276 name: glandular cell neoplasm synonym: "glandular cell epithelial neoplasm" EXACT [NCIT:C7132] synonym: "glandular cell epithelium neoplasm" EXACT [NCIT:C7132] synonym: "glandular cell neoplasm" EXACT [NCIT:C7132] synonym: "glandular cell tumor" EXACT [MONDO:cjm] synonym: "glandular cell tumour" EXACT OMO:0003005 [] xref: HP:0031493 {source="MONDO:otherHierarchy"} xref: NCIT:C7132 {source="MONDO:equivalentTo"} xref: UMLS:C1333820 {source="NCIT:C7132", source="MONDO:equivalentTo"} is_a: EFO:0006858 {source="NCIT:C7132"} ! epithelial neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333820 property_value: exactMatch NCIT:C7132 [Term] id: MONDO:0024280 name: polyarticular arthritis def: "An arthritis affecting five or more separate joints." [NCIT:C26996] synonym: "polyarthritis" EXACT [NCIT:C26996] synonym: "polyarticular arthritis" EXACT [NCIT:C26996] xref: NCIT:C26996 {source="MONDO:equivalentTo"} xref: SCTID:416956002 {source="MONDO:equivalentTo"} is_a: EFO:0005856 {source="NCIT:C26996"} ! arthritis property_value: exactMatch http://identifiers.org/snomedct/416956002 property_value: exactMatch NCIT:C26996 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0024282 name: mucinous ovarian cancer def: "An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract. It includes mucinous adenocarcinoma and mucinous adenocarcinofibroma." [NCIT:C40033] synonym: "malignant ovarian mucinous neoplasm" EXACT [NCIT:C40033] synonym: "malignant ovarian mucinous tumor" EXACT [NCIT:C40033] synonym: "malignant ovarian mucinous tumour" EXACT OMO:0003005 [] synonym: "ovarian mucinous neoplasm, malignant" EXACT [MONDO:patterns/malignant] xref: NCIT:C40033 {source="MONDO:equivalentTo"} xref: ONCOTREE:MOV {source="MONDO:equivalentTo"} xref: UMLS:C1518233 {source="MONDO:equivalentTo", source="NCIT:C40033"} is_a: MONDO:0003756 {source="MONDO:Redundant", source="NCIT:C40033"} ! ovarian mucinous neoplasm is_a: MONDO:0018364 {source="MONDO:Redundant", source="NCIT:C40033"} ! malignant epithelial tumor of ovary property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518233 property_value: exactMatch NCIT:C40033 [Term] id: MONDO:0024286 name: benign blood vessel neoplasm def: "A benign neoplasm arising from arteries or veins." [NCIT:C8537] synonym: "benign blood vessel neoplasm" EXACT [NCIT:C8537] synonym: "benign blood vessel tumor" EXACT [NCIT:C8537] synonym: "benign blood vessel tumour" EXACT OMO:0003005 [] xref: DOID:60006 {source="MONDO:equivalentTo"} xref: NCIT:C8537 {source="MONDO:equivalentTo"} xref: UMLS:C0685121 {source="MONDO:equivalentTo", source="NCIT:C8537"} is_a: MONDO:0000629 ! cardiovascular organ benign neoplasm is_a: MONDO:0021080 {source="MONDO:Redundant", source="NCIT:C8537"} ! blood vessel neoplasm property_value: exactMatch DOID:60006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0685121 property_value: exactMatch NCIT:C8537 [Term] id: MONDO:0024287 name: congenital vascular malformation def: "A congenital abnormality of the arteries and veins, lymph vessels or veins and lymph vessels." [NCIT:C112117] synonym: "congenital vascular malformation" EXACT [MONDO:patterns/congenital] synonym: "vascular malformation" BROAD [NCIT:C112117] xref: NCIT:C112117 {source="MONDO:equivalentTo"} is_a: EFO:0006888 ! vascular malformation intersection_of: EFO:0006888 ! vascular malformation intersection_of: has_characteristic MONDO:0021140 ! congenital relationship: has_characteristic MONDO:0021140 ! congenital property_value: exactMatch NCIT:C112117 [Term] id: MONDO:0024290 name: enuresis def: "An elimination disorder characterized by urinary incontinence, whether involuntary or intentional, which is not due to a medical condition and which occurs at or beyond an age at which continence is expected (usually 5 years)." [NCIT:C34588] synonym: "enuresis" EXACT [NCIT:C34588] xref: MESH:D004775 {source="MONDO:equivalentTo"} xref: NCIT:C34588 {source="MONDO:equivalentTo"} xref: UMLS:C0014394 {source="MONDO:equivalentTo", source="NCIT:C34588"} is_a: MONDO:0002025 ! psychiatric disorder property_value: exactMatch http://identifiers.org/mesh/D004775 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014394 property_value: exactMatch NCIT:C34588 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0024292 name: gastrointestinal polyp def: "A polypoid tumor that arises from any part of the gastrointestinal tract and protrudes into the lumen. Representative examples include adenomatous polyps, hyperplastic polyps, and hamartomatous polyps." [NCIT:C35516] synonym: "gastrointestinal polyp" EXACT [NCIT:C35516] synonym: "gastrointestinal tract polyp" EXACT [NCIT:C35516] synonym: "GI polyp" EXACT [NCIT:C35516] xref: NCIT:C35516 {source="MONDO:equivalentTo"} xref: UMLS:C0744333 {source="MONDO:equivalentTo", source="NCIT:C35516"} is_a: EFO:0000405 {source="NCIT:C35516"} ! digestive system disease is_a: EFO:0000662 {source="MONDO:Redundant", source="NCIT:C35516"} ! polyp property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0744333 property_value: exactMatch NCIT:C35516 [Term] id: MONDO:0024294 name: skin disorder caused by infection def: "Skin diseases caused by bacteria, fungi, parasites, or viruses." [MESH:D012874] synonym: "disease, infectious skin" RELATED [MESH:D012874] synonym: "diseases, infectious skin" RELATED [MESH:D012874] synonym: "infectious skin disease" RELATED [MESH:D012874] synonym: "infectious skin diseases" RELATED [MESH:D012874] synonym: "skin disease, infectious" RELATED [MESH:D012874] xref: MESH:D012874 {source="MONDO:equivalentTo"} is_a: EFO:0000701 {source="MESH:D012874", source="MONDO:Entailed", source="MONDO:Redundant"} ! skin disease is_a: EFO:0005741 ! infectious disease property_value: exactMatch http://identifiers.org/mesh/D012874 [Term] id: MONDO:0024295 name: skin disease caused by bacterial infection def: "Skin diseases caused by bacteria." [MESH:D017192] synonym: "Bacteria caused skin disease caused by infection" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Bacteria skin disease caused by infection" EXACT [] synonym: "bacterial skin disease" RELATED [MESH:D017192] synonym: "bacterial skin diseases" RELATED [MESH:D017192] synonym: "disease, bacterial skin" RELATED [MESH:D017192] synonym: "diseases, bacterial skin" RELATED [MESH:D017192] synonym: "skin disease, bacterial" RELATED [MESH:D017192] xref: MESH:D017192 {source="MONDO:equivalentTo"} is_a: EFO:0000771 {source="MESH:D017192", source="MONDO:Redundant"} ! bacterial disease is_a: MONDO:0024294 {source="MESH:D017192", source="MONDO:Entailed", source="MONDO:Redundant"} ! skin disorder caused by infection property_value: exactMatch http://identifiers.org/mesh/D017192 [Term] id: MONDO:0024296 name: vascular neoplasm def: "A benign, intermediate, or malignant neoplasm arising from vascular tissue including arteries, veins, venous sinuses, lymphatic vessels, arterioles and capillaries. It may occur in essentially any body location and is characterized by the presence of vascular channel formation and endothelial cells." [NCIT:C7388] synonym: "neoplasm of vascular system" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of vascular tissue" EXACT [NCIT:C7388] synonym: "neoplasms, vascular" EXACT [NCIT:C7388] synonym: "tumor of vascular system" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of vascular tissue" EXACT [NCIT:C7388] synonym: "tumors, vascular" EXACT [NCIT:C7388] synonym: "tumour of vascular system" EXACT OMO:0003005 [] synonym: "tumour of vascular tissue" EXACT OMO:0003005 [] synonym: "vascular neoplasm" EXACT [NCIT:C7388] synonym: "vascular neoplasms" EXACT [NCIT:C7388] synonym: "vascular system neoplasm" EXACT [] synonym: "vascular system neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "vascular system tumor" EXACT [MONDO:patterns/neoplasm] synonym: "vascular system tumour" EXACT OMO:0003005 [] synonym: "vascular tissue neoplasm" EXACT [NCIT:C7388] synonym: "vascular tissue tumor" EXACT [NCIT:C7388] synonym: "vascular tissue tumour" EXACT OMO:0003005 [] synonym: "vascular tumor" EXACT [NCIT:C7388] synonym: "vascular tumors" EXACT [NCIT:C7388] synonym: "vascular tumour" EXACT OMO:0003005 [] synonym: "vascular tumours" EXACT OMO:0003005 [] xref: NCIT:C7388 {source="MONDO:equivalentTo"} is_a: MONDO:0024757 ! cardiovascular neoplasm property_value: exactMatch NCIT:C7388 [Term] id: MONDO:0024298 name: vitamin deficiency disorder def: "A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency." [NCIT:C35772] synonym: "Avitaminoses" RELATED [MESH:D001361] synonym: "avitaminosis" EXACT [NCIT:C35772] synonym: "deficiencies, vitamin" RELATED [MESH:D001361] synonym: "deficiency, vitamin" RELATED [MESH:D001361] synonym: "vitamin deficiencies" RELATED [MESH:D001361] synonym: "vitamin deficiency" EXACT [MESH:D001361, NCIT:C35772] synonym: "vitamin deficiency disorder" EXACT [NCIT:C35772] xref: EFO:0005878 {source="MONDO:equivalentTo"} xref: ICD9:269.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:269.2 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D001361 {source="MONDO:equivalentTo"} xref: NCIT:C35772 {source="MONDO:equivalentTo"} xref: SCTID:85670002 {source="MONDO:equivalentTo"} xref: UMLS:C0376286 {source="MONDO:equivalentTo"} xref: UMLS:C1510471 {source="MONDO:equivalentTo", source="NCIT:C35772"} is_a: EFO:1001067 {source="MESH:D001361", source="MONDO:cjm"} ! nutritional deficiency disease property_value: exactMatch http://identifiers.org/mesh/D001361 property_value: exactMatch http://identifiers.org/snomedct/85670002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0376286 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1510471 property_value: exactMatch NCIT:C35772 [Term] id: MONDO:0024299 name: vitamin D-dependent rickets synonym: "VDDR" EXACT ABBREVIATION [] xref: DOID:0080883 {source="MONDO:equivalentTo"} xref: SCTID:68295002 {source="MONDO:equivalentTo"} xref: UMLS:C0221468 {source="MONDO:equivalentTo"} is_a: EFO:0005583 ! rickets property_value: exactMatch DOID:0080883 property_value: exactMatch http://identifiers.org/snomedct/68295002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221468 [Term] id: MONDO:0024300 name: hypophosphatemic rickets def: "Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D." [NCIT:C131449] synonym: "acquired vitamin D resistant rickets" NARROW [MESH:D063730] synonym: "acquired vitamin D-resistant rickets" NARROW [MESH:D063730] synonym: "hypophosphatemia, vitamin D-resistant rickets" RELATED [MESH:D063730] synonym: "hypophosphatemic Ricket" RELATED [MESH:D063730] synonym: "hypophosphatemic rickets" EXACT [MESH:D063730, NCIT:C131449] synonym: "hypophosphatemic vitamin D resistant rickets" RELATED [MESH:D063730] synonym: "hypophosphatemic vitamin D-resistant rickets" RELATED [MESH:D063730] synonym: "Phosphopenic rickets" EXACT [NCIT:C131449] synonym: "Ricket, hypophosphatemic" RELATED [MESH:D063730] synonym: "rickets, vitamin D resistant" RELATED DEPRECATED [MESH:D063730] synonym: "rickets, vitamin D-resistant" RELATED DEPRECATED [MESH:D063730] synonym: "vitamin D-resistant rickets" RELATED DEPRECATED [MESH:D063730] xref: MESH:D063730 {source="MONDO:equivalentTo"} xref: NCIT:C131449 {source="MONDO:equivalentTo"} is_a: EFO:0005583 {source="MESH:D063730", source="NCIT:C131449"} ! rickets property_value: exactMatch http://identifiers.org/mesh/D063730 property_value: exactMatch NCIT:C131449 [Term] id: MONDO:0024301 name: acquired mineral metabolism disease def: "An instance of mineral metabolism disease that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] synonym: "acquired mineral metabolism disease" EXACT [MONDO:patterns/acquired] synonym: "mineral metabolism disease" RELATED [DOID:0050032] xref: DOID:0050032 {source="MONDO:equivalentTo"} is_a: EFO:0009556 ! mineral metabolism disease is_a: EFO:1000639 {source="DOID:0050032", source="MONDO:Entailed", source="MONDO:Redundant"} ! acquired metabolic disease intersection_of: EFO:0009556 ! mineral metabolism disease intersection_of: has_characteristic MONDO:0021141 ! acquired property_value: exactMatch DOID:0050032 [Term] id: MONDO:0024305 name: acquired hyperprolactinemia def: "An instance of hyperprolactinemia (disease) that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] synonym: "acquired hyperprolactinemia (disease)" EXACT [MONDO:patterns/acquired] synonym: "Chiari-Frommel syndrome" EXACT [DOID:12700] synonym: "hyperprolactinemia" RELATED [DOID:12700] synonym: "pregnancy-related A-G syndrome" EXACT [DOID:12700] xref: DOID:12700 {source="MONDO:equivalentTo"} xref: ICD10CM:E22.1 {source="DOID:12700", source="MONDO:relatedTo"} xref: MESH:D002640 {source="DOID:12700", source="MONDO:relatedTo"} xref: MESH:D006966 {source="DOID:12700", source="MONDO:relatedTo"} is_a: EFO:0007319 ! hyperprolactinemia is_a: EFO:1000639 {source="DOID:12700"} ! acquired metabolic disease intersection_of: EFO:0007319 ! hyperprolactinemia intersection_of: has_characteristic MONDO:0021141 ! acquired property_value: exactMatch DOID:12700 [Term] id: MONDO:0024306 name: acquired lactic acidosis def: "An instance of lactic acidosis that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] synonym: "acquired lactic acidosis" EXACT [MONDO:patterns/acquired] synonym: "lactic acidosis" RELATED [DOID:3650] xref: DOID:3650 {source="EFO:1000036", source="MONDO:equivalentTo"} xref: EFO:1000036 {source="MONDO:equivalentTo"} xref: MESH:D000140 {source="DOID:3650", source="MONDO:relatedTo"} xref: SCTID:91273001 {source="DOID:3650", source="MONDO:relatedTo"} is_a: EFO:1000036 ! lactic acidosis is_a: EFO:1000639 {source="DOID:3650", source="DOID:3650/inferred", source="MONDO:Redundant"} ! acquired metabolic disease intersection_of: EFO:1000036 ! lactic acidosis intersection_of: has_characteristic MONDO:0021141 ! acquired property_value: exactMatch DOID:3650 [Term] id: MONDO:0024307 name: prothrombin deficiency is_a: MONDO:0002243 {source="MONDO:cjm"} ! hemorrhagic disease [Term] id: MONDO:0024308 name: pseudoxanthoma elasticum (inherited or acquired) def: "An inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract." [GARD:0009643] synonym: "pseudoxanthoma elasticum" EXACT [] synonym: "PXE" EXACT ABBREVIATION [GARD:0009643] xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:252246005 {source="MONDO:equivalentTo"} is_a: EFO:0010285 ! integumentary system disease property_value: exactMatch http://identifiers.org/snomedct/252246005 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum xsd:anyURI {source="GARD:0009643"} [Term] id: MONDO:0024311 name: cancer affecting bone of limb skeleton def: "A cancer that involves the limb bone." [MONDO:patterns/location] synonym: "cancer of limb bone" EXACT [MONDO:patterns/cancer] synonym: "limb bone cancer" EXACT [MONDO:patterns/location] synonym: "malignant limb bone neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of limb bone" EXACT [MONDO:patterns/cancer] xref: ICD10CM:C40 {source="MONDO:equivalentTo"} is_a: EFO:1000350 {source="MONDO:Redundant", source="MONDO:cjm"} ! Malignant Bone Neoplasm property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/C40 [Term] id: MONDO:0024315 name: parasitic endophthalmitis def: "Infection of the epicondyles by a parasite." [NCIT:C34587] synonym: "parasitic endophthalmitis" EXACT [NCIT:C34587] xref: ICD9:360.13 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C34587 {source="MONDO:equivalentTo"} xref: SCTID:57100005 {source="MONDO:equivalentTo"} xref: UMLS:C0014238 {source="MONDO:equivalentTo", source="NCIT:C34587"} is_a: MONDO:0016047 {source="MONDO:Redundant", source="NCIT:C34587"} ! endophthalmitis is_a: MONDO:0020947 ! parasitic eye infection intersection_of: EFO:0001067 ! parasitic infection intersection_of: MONDO:0016047 ! endophthalmitis property_value: exactMatch http://identifiers.org/snomedct/57100005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014238 property_value: exactMatch NCIT:C34587 [Term] id: MONDO:0024317 name: chronic pain syndrome def: "Chronic form of disorder involving pain." [MONDO:patterns/chronic] synonym: "chronic disorder involving pain" EXACT [] synonym: "chronic pain disease" EXACT [] synonym: "disorder involving pain, chronic" EXACT [MONDO:patterns/chronic] xref: ICD10CM:G89.4 {source="MONDO:equivalentTo"} xref: ICD9:338.4 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:373621006 {source="MONDO:equivalentTo"} xref: UMLS:C1298685 {source="MONDO:equivalentTo"} is_a: MONDO:0700057 ! neurological pain disorder property_value: exactMatch http://identifiers.org/snomedct/373621006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1298685 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G89.4 [Term] id: MONDO:0024318 name: viral infection of central nervous system synonym: "central nervous system viral infection" RELATED [] synonym: "viral disease of central nervous system" RELATED [] synonym: "viral infection of central nervous system" EXACT [] xref: ICD10CM:A80-A89 {source="MONDO:mondoIsNarrowerThanSource"} xref: ICD10WHO:A80-A89 {source="MONDO:equivalentTo"} xref: MESH:D020805 {source="MONDO:equivalentTo"} xref: SCTID:302810003 {source="MONDO:equivalentTo"} xref: UMLS:C0348165 {source="MONDO:equivalentTo"} is_a: EFO:0000763 ! viral disease is_a: EFO:1001456 ! central nervous system infection property_value: broadMatch http://purl.bioontology.org/ontology/ICD10CM/A80-A89 property_value: exactMatch http://identifiers.org/mesh/D020805 property_value: exactMatch http://identifiers.org/snomedct/302810003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0348165 property_value: exactMatch https://icd.who.int/browse10/2019/en#/A80-A89 [Term] id: MONDO:0024320 name: inner ear neoplasm def: "A rare neoplasm that arises from the inner ear. Representative examples include lipoma and acoustic schwannoma." [NCIT:C39784] synonym: "inner Ear neoplasm" EXACT [NCIT:C39784] synonym: "internal Ear neoplasm" EXACT [NCIT:C39784] synonym: "internal ear neoplasm" EXACT [] synonym: "internal ear neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "internal ear tumor" EXACT [MONDO:patterns/neoplasm] synonym: "internal ear tumour" EXACT OMO:0003005 [] synonym: "neoplasm of internal ear" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of internal ear" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of internal ear" EXACT OMO:0003005 [] xref: NCIT:C39784 {source="MONDO:equivalentTo"} xref: UMLS:C1512779 {source="NCIT:C39784", source="MONDO:equivalentTo"} is_a: EFO:0009672 {source="MONDO:Redundant", source="NCIT:C39784"} ! inner ear disease is_a: MONDO:0021233 {source="MONDO:Redundant", source="NCIT:C39784"} ! ear neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1512779 property_value: exactMatch NCIT:C39784 [Term] id: MONDO:0024321 name: disorder of GPI anchor biosynthesis def: "A disease that has its basis in the disruption of GPI anchor biosynthetic process." [MONDO:patterns/basis_in_disruption_of_process] comment: May be inborn or somatic synonym: "disorder of GPI anchor biosynthetic process" EXACT [MONDO:patterns/basis_in_disruption_of_process] synonym: "glycosylphosphatidylinositol biosynthesis defect" EXACT [] synonym: "GPI anchor biosynthetic process disease" EXACT [] synonym: "GPIBD" EXACT ABBREVIATION [] is_a: MONDO:0024322 {source="MONDO:cjm"} ! disorder of glycosylation [Term] id: MONDO:0024322 name: disorder of glycosylation def: "A disease that has its basis in the disruption of glycosylation." [MONDO:patterns/basis_in_disruption_of_process] comment: May be inborn or somatic synonym: "disorder of glycosylation" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "glycosylation disease" EXACT [MONDO:design_pattern] is_a: EFO:0000589 ! metabolic disease [Term] id: MONDO:0024334 name: peripheral nerve lesion is_a: EFO:0003100 ! peripheral neuropathy property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0024337 name: urothelial neoplasm def: "A neoplasm involving a urothelium." [MONDO:patterns/neoplasm] synonym: "neoplasm of urothelium" EXACT [MONDO:patterns/neoplasm] synonym: "transitional cell neoplasm of the urinary tract" EXACT [NCIT:C39852] synonym: "tumor of urothelium" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of urothelium" EXACT OMO:0003005 [] synonym: "urothelial neoplasm" EXACT [NCIT:C39852] synonym: "urothelium neoplasm" EXACT [] synonym: "urothelium neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "urothelium tumor" EXACT [MONDO:patterns/neoplasm] synonym: "urothelium tumour" EXACT OMO:0003005 [] xref: NCIT:C39852 {source="MONDO:equivalentTo"} xref: UMLS:C1519840 {source="NCIT:C39852", source="MONDO:equivalentTo"} is_a: MONDO:0021066 {source="MONDO:Redundant", source="NCIT:C39852"} ! urinary system neoplasm is_a: MONDO:0037254 {source="NCIT:C39852"} ! transitional cell neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519840 property_value: exactMatch NCIT:C39852 [Term] id: MONDO:0024338 name: mucinous neoplasm synonym: "mucinous neoplasm" EXACT [NCIT:C7070] synonym: "mucinous tumor" EXACT [NCIT:C7070] synonym: "mucinous tumour" EXACT OMO:0003005 [] xref: NCIT:C7070 {source="MONDO:equivalentTo"} xref: UMLS:C1334811 {source="MONDO:equivalentTo", source="NCIT:C7070"} is_a: MONDO:0024276 {source="NCIT:C7070"} ! glandular cell neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334811 property_value: exactMatch NCIT:C7070 [Term] id: MONDO:0024339 name: lymph node neoplasm def: "A neoplasm involving a lymph node." [MONDO:patterns/neoplasm] synonym: "lymph node neoplasm" EXACT [NCIT:C35497] synonym: "lymph node neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "lymph node tumor" EXACT [MONDO:patterns/neoplasm] synonym: "lymph node tumour" EXACT OMO:0003005 [] synonym: "neoplasm of lymph node" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of lymph node" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of lymph node" EXACT OMO:0003005 [] xref: NCIT:C35497 {source="MONDO:equivalentTo"} is_a: MONDO:0002334 {source="NCIT:C35497"} ! hematopoietic and lymphoid system neoplasm is_a: MONDO:0004928 {source="MONDO:Redundant", source="NCIT:C35497"} ! lymph node disorder property_value: exactMatch NCIT:C35497 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0024341 name: retinal cell neoplasm def: "A neoplasm arising from the neural retina. This category includes retinoblastoma and retinocytoma." [] synonym: "retinal cell neoplasm" EXACT [NCIT:C7061] synonym: "retinal cell tumor" EXACT [NCIT:C7061] synonym: "retinal cell tumour" EXACT OMO:0003005 [] synonym: "retinal neural cell neoplasm" EXACT [NCIT:C7061] xref: NCIT:C7061 {source="MONDO:equivalentTo"} xref: UMLS:C1335765 {source="MONDO:equivalentTo", source="NCIT:C7061"} is_a: EFO:1000509 {source="NCIT:C7061"} ! Retinal Neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335765 property_value: exactMatch NCIT:C7061 [Term] id: MONDO:0024351 name: obsolete familial pityriasis rubra pilaris property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3470 xsd:anyURI is_obsolete: true replaced_by: MONDO:0008251 [Term] id: MONDO:0024352 name: viral respiratory tract infection def: "A respiratory tract infection caused by a virus. Viruses represent the most common causes of upper and lower respiratory tract infections and include rhinoviruses, influenza viruses, parainfluenza viruses, and respiratory syncytial virus." [NCIT:C27219] synonym: "viral respiratory tract infection" EXACT [NCIT:C27219] xref: ICD9:519.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C27219 {source="MONDO:equivalentTo"} xref: SCTID:312133006 {source="MONDO:equivalentTo"} is_a: EFO:0000763 {source="MONDO:Redundant", source="NCIT:C27219"} ! viral disease is_a: MONDO:0024355 ! respiratory tract infectious disorder property_value: exactMatch http://identifiers.org/snomedct/312133006 property_value: exactMatch NCIT:C27219 [Term] id: MONDO:0024355 name: respiratory tract infectious disorder def: "Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases." [MESH:D012141] synonym: "infection, respiratory tract" RELATED [MESH:D012141] synonym: "infections, respiratory" RELATED [MESH:D012141] synonym: "infections, respiratory tract" RELATED [MESH:D012141] synonym: "infections, upper respiratory" RELATED [MESH:D012141] synonym: "infections, upper respiratory tract" RELATED [MESH:D012141] synonym: "respiratory infection, upper" NARROW [MESH:D012141] synonym: "respiratory infections" RELATED [MESH:D012141] synonym: "respiratory tract infection" RELATED [MESH:D012141] synonym: "upper respiratory infections" NARROW [MESH:D012141] synonym: "upper respiratory tract infections" NARROW [MESH:D012141] xref: ICD9:519.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D012141 {source="MONDO:equivalentTo"} xref: SCTID:275498002 {source="MONDO:equivalentTo"} is_a: EFO:0000684 ! respiratory system disease is_a: EFO:0005741 ! infectious disease property_value: exactMatch http://identifiers.org/mesh/D012141 property_value: exactMatch http://identifiers.org/snomedct/275498002 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0024358 name: complex sleep apnea def: "A distinct form of sleep-disordered breathing characterized as central sleep apnea (CSA), and presents in obstructive sleep apnea (OSA) patients during initial treatment with a continuous positive airway pressure (CPAP) device." [PMID:23861580] synonym: "complex sleep apnea" EXACT [DOID:0080302, PMID:23861580] synonym: "CompSAS" EXACT [PMID:23861580] synonym: "mixed sleep apnea" EXACT [] xref: DOID:0080302 {source="MONDO:equivalentTo"} xref: SCTID:230493001 {source="MONDO:equivalentTo", source="DOID:0080302"} is_a: EFO:0003918 {source="MONDO:Redundant", source="PMID:23861580"} ! obstructive sleep apnea is_a: MONDO:0004731 {source="MONDO:Redundant", source="PMID:23861580"} ! central sleep apnea syndrome intersection_of: EFO:0003918 ! obstructive sleep apnea intersection_of: MONDO:0004731 ! central sleep apnea syndrome property_value: exactMatch DOID:0080302 property_value: exactMatch http://identifiers.org/snomedct/230493001 [Term] id: MONDO:0024361 name: circadian rhythm sleep disorder def: "A persistent or recurrent pattern of sleep disruption that is primarily due to an alteration of the circadian system or to a misalignment between the endogenous circadian rhythm and the sleep-wake schedule required by an individual's physical environment or social or professional schedule.(DSM IV)" [https://www.circadiansleepdisorders.org/defs.php] synonym: "circadian sleep disorder" EXACT [https://www.circadiansleepdisorders.org/defs.php] synonym: "disorders of the sleep-wake schedule" EXACT [] synonym: "sleep-wake schedule disorder" EXACT [] xref: ICD10CM:G47.2 {source="MONDO:equivalentTo"} xref: ICD9:327.30 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D020178 {source="MONDO:equivalentTo"} xref: NCIT:C95071 {source="MONDO:equivalentTo"} xref: SCTID:3745000 {source="MONDO:equivalentTo"} is_a: MONDO:0003406 {source="ICD10CM:G47.2", source="MONDO:Redundant", source="NCIT:C95071"} ! sleep-wake disorder property_value: exactMatch http://identifiers.org/mesh/D020178 property_value: exactMatch http://identifiers.org/snomedct/3745000 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/G47.2 property_value: exactMatch NCIT:C95071 [Term] id: MONDO:0024387 name: benign ovarian sex cord-stromal tumor def: "A sex cord-stromal tumor arising from the ovary, without metastatic potential." [NCIT:C6803] synonym: "benign ovarian Sex cord-stromal neoplasm" EXACT [NCIT:C6803] synonym: "benign ovarian Sex cord-stromal tumor" EXACT [NCIT:C6803] synonym: "benign ovarian Sex cord-stromal tumour" EXACT OMO:0003005 [] synonym: "benign Sex cord-stromal neoplasm of ovary" EXACT [NCIT:C6803] synonym: "benign Sex cord-stromal neoplasm of the ovary" EXACT [NCIT:C6803] synonym: "benign Sex cord-stromal tumor of ovary" EXACT [NCIT:C6803] synonym: "benign Sex cord-stromal tumor of the ovary" EXACT [NCIT:C6803] synonym: "benign Sex cord-stromal tumour of ovary" EXACT OMO:0003005 [] synonym: "benign Sex cord-stromal tumour of the ovary" EXACT OMO:0003005 [] synonym: "ovarian SEX cord-stromal tumor, benign" EXACT [NCIT:C6803] synonym: "ovarian sex cord-stromal tumor, benign" EXACT [MONDO:patterns/benign] synonym: "Sex cord stromal tumor, benign" EXACT [NCIT:C6803] xref: DOID:0080370 {source="MONDO:equivalentTo"} xref: NCIT:C6803 {source="MONDO:equivalentTo"} xref: UMLS:C1332528 {source="MONDO:equivalentTo"} is_a: EFO:1000116 {source="MONDO:Redundant", source="NCIT:C6803"} ! Benign Ovarian Neoplasm is_a: MONDO:0021657 {source="MONDO:Redundant", source="NCIT:C6803"} ! ovarian sex cord-stromal tumor is_a: MONDO:0024988 ! sex cord-stromal benign neoplasm property_value: exactMatch DOID:0080370 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332528 property_value: exactMatch NCIT:C6803 [Term] id: MONDO:0024389 name: anaerobic bacteria infectious disease comment: Editor note: DP synonym: "anaerobic bacterial infection" EXACT [] synonym: "infection caused by anaerobic bacteria" EXACT [] synonym: "infection due to anaerobic bacteria" EXACT [] xref: ICD9:041.84 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:423451008 {source="MONDO:equivalentTo"} xref: UMLS:C0854328 {source="MONDO:equivalentTo"} is_a: EFO:0000771 ! bacterial disease property_value: exactMatch http://identifiers.org/snomedct/423451008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0854328 [Term] id: MONDO:0024392 name: anaerobic balanitis synonym: "anaerobic balanitis" EXACT [] xref: SCTID:236746000 {source="MONDO:equivalentTo"} xref: UMLS:C0403764 {source="MONDO:equivalentTo"} is_a: EFO:1000833 ! balanitis is_a: MONDO:0024389 {source="MONDO:Redundant"} ! anaerobic bacteria infectious disease intersection_of: EFO:1000833 ! balanitis intersection_of: MONDO:0024389 ! anaerobic bacteria infectious disease property_value: exactMatch http://identifiers.org/snomedct/236746000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0403764 [Term] id: MONDO:0024414 name: anaerobic cellulitis synonym: "anaerobic cellulitis" EXACT [] xref: ICD9:041.84 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:682.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:238401006 {source="MONDO:equivalentTo"} xref: UMLS:C0241828 {source="MONDO:equivalentTo"} is_a: EFO:0003035 ! cellulitis is_a: MONDO:0024389 {source="MONDO:Redundant"} ! anaerobic bacteria infectious disease intersection_of: EFO:0003035 ! cellulitis intersection_of: MONDO:0024389 ! anaerobic bacteria infectious disease property_value: exactMatch http://identifiers.org/snomedct/238401006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0241828 [Term] id: MONDO:0024417 name: perceptual disorders def: "Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body." [MESH:D010468] xref: MESH:D010468 {source="MONDO:equivalentTo"} is_a: EFO:0000618 ! nervous system disease is_a: MONDO:0002025 ! psychiatric disorder property_value: exactMatch http://identifiers.org/mesh/D010468 [Term] id: MONDO:0024419 name: enthesitis def: "Inflammation at the site of insertion of ligaments, tendons, and other fibrous structures into bone." [NCIT:C114470] synonym: "enthesis inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "enthesitis" EXACT [NCIT:C114470] synonym: "inflammation of enthesis" EXACT [] synonym: "inflammatory enthesopathy" EXACT [] xref: NCIT:C114470 {source="MONDO:equivalentTo"} xref: SCTID:359643005 {source="MONDO:equivalentTo"} xref: UMLS:C1282952 {source="NCIT:C114470", source="MONDO:equivalentTo"} is_a: EFO:0009666 {source="MONDO:Redundant"} ! enthesopathy is_a: EFO:0009903 ! inflammatory disease property_value: exactMatch http://identifiers.org/snomedct/359643005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1282952 property_value: exactMatch NCIT:C114470 [Term] id: MONDO:0024431 name: bilirubin metabolism disease synonym: "disorder of bilirubin metabolism" EXACT [] xref: SCTID:80006005 {source="MONDO:equivalentTo"} is_a: EFO:0000589 ! metabolic disease property_value: exactMatch http://identifiers.org/snomedct/80006005 [Term] id: MONDO:0024457 name: neurodegeneration with brain iron accumulation 2A comment: AR PLA2G6 subset: gard_rare subset: ordo_disease {source="Orphanet:35069"} synonym: "Hunter Carpenter Macdonald syndrome" RELATED [GARD:0002751] synonym: "Hunter-Carpenter-McDonald syndrome" RELATED DEPRECATED [Orphanet:2174] synonym: "inaD" EXACT [OMIM:256600, Orphanet:35069] synonym: "INAD1" RELATED ABBREVIATION [OMIM:256600, Orphanet:35069] synonym: "infantile neuroaxonal dystrophy" EXACT [Orphanet:35069] synonym: "infantile neuroaxonal dystrophy 1" EXACT [DOID:0110735] synonym: "infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy" RELATED [GARD:0003957] synonym: "KARAK syndrome, included" RELATED [GARD:0003957] synonym: "NBIA2A" EXACT ABBREVIATION [DOID:0110735, OMIM:256600] synonym: "neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene" RELATED [GARD:0002751] synonym: "neuroaxonal dystrophy, infantile" RELATED [OMIM:256600] synonym: "neurodegeneration with brain iron accumulation 2A" EXACT [MONDO:Lexical, OMIM:256600] synonym: "neurodegeneration with brain iron accumulation type 2A" EXACT [MONDORULE:4, OMIM:256600] synonym: "neurodegeneration with brain iron accumulation type 2a" EXACT [DOID:0110735, MONDORULE:4] synonym: "neurodegeneration, PLA2G6-associated" EXACT [OMIM:256600] synonym: "neurodegeneration, Pla2G6-associated" EXACT [OMIM:256600] synonym: "neurodegeneration, Pla2g6-associated" EXACT [DOID:0110735] synonym: "phospholipase A2-associated neurodegeneration" EXACT [Orphanet:35069] synonym: "PLAN" EXACT ABBREVIATION [Orphanet:35069] synonym: "Seitelberger disease" BROAD DEPRECATED [DOID:0110735, OMIM:256600, Orphanet:35069] xref: DOID:0110735 {source="MONDO:equivalentTo"} xref: ICD9:330.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536071 {source="MONDO:equivalentTo"} xref: NCIT:C84927 {source="MONDO:equivalentTo"} xref: OMIM:256600 {source="GARD:0002751", source="DOID:0110735", source="MONDO:equivalentTo", source="Orphanet:35069"} xref: Orphanet:35069 {source="MONDO:equivalentTo", source="OMIM:256600"} xref: SCTID:52713000 {source="MONDO:equivalentTo"} is_a: MONDO:0017998 {source="Orphanet:35069"} ! PLA2G6-associated neurodegeneration is_a: MONDO:0020127 {source="Orphanet:35069"} ! hereditary peripheral neuropathy property_value: exactMatch DOID:0110735 property_value: exactMatch http://identifiers.org/mesh/C536071 property_value: exactMatch http://identifiers.org/snomedct/52713000 property_value: exactMatch https://omim.org/entry/256600 property_value: exactMatch NCIT:C84927 property_value: exactMatch Orphanet:35069 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2751/hunter-carpenter-macdonald-syndrome xsd:anyURI {source="GARD:0002751"} [Term] id: MONDO:0024458 name: disorder of visual system def: "A disease that involves the visual system." [MONDO:patterns/location] subset: rare_grouping synonym: "disease of visual system" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of visual system" EXACT [] synonym: "disorder of visual system" EXACT [MONDO:patterns/location_top] synonym: "visual system disease" EXACT [MONDO:patterns/location] synonym: "visual system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "visual system disorder" EXACT [] xref: SCTID:128127008 {source="MONDO:equivalentTo"} is_a: EFO:0000408 ! disease property_value: exactMatch http://identifiers.org/snomedct/128127008 [Term] id: MONDO:0024464 name: pituitary hormone deficiency, combined, 1 def: "Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the POU1F1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "combined pituitary hormone deficiencies, genetic form caused by mutation in POU1F1" EXACT [MONDO:design_pattern] synonym: "CPHD1" EXACT ABBREVIATION [OMIM:613038] synonym: "pituitary hormone deficiency, combined 1" RELATED [GARD:0010601] synonym: "pituitary hormone deficiency, combined or isolated, 1" EXACT [OMIM:613038, OMIM:genemap2] synonym: "pituitary hormone deficiency, combined, 1" EXACT [OMIM:613038] synonym: "POU1F1 combined pituitary hormone deficiencies, genetic form" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MESH:C567803 {source="MONDO:equivalentTo"} xref: OMIM:613038 {source="MONDO:equivalentTo"} xref: UMLS:C2751608 {source="OMIM:613038", source="MONDO:equivalentTo"} is_a: MONDO:0013099 {source="MONDO:Redundant", source="OMIM:613038"} ! combined pituitary hormone deficiencies, genetic form property_value: exactMatch http://identifiers.org/mesh/C567803 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751608 property_value: exactMatch https://omim.org/entry/613038 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0024468 name: anterior pituitary gland disorder def: "A disease that involves the adenohypophysis." [MONDO:patterns/location] synonym: "adenohypophysis disease" EXACT [MONDO:patterns/location] synonym: "adenohypophysis disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "disease of adenohypophysis" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of adenohypophysis" EXACT [] synonym: "disorder of adenohypophysis" EXACT [MONDO:patterns/location_top] synonym: "disorder of anterior pituitary" EXACT [] synonym: "disorder of anterior pituitary gland" RELATED [] xref: ICD9:253.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:253.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:51742006 {source="MONDO:equivalentTo"} is_a: EFO:0009607 {source="MONDO:Redundant"} ! pituitary gland disease property_value: exactMatch http://identifiers.org/snomedct/51742006 [Term] id: MONDO:0024469 name: chondrogenic neoplasm def: "A benign, intermediate, or malignant cartilaginous matrix-producing neoplasm. Representative examples include osteochondroma, chondroblastoma, and chondrosarcoma." [NCIT:C4755] synonym: "cartilaginous neoplasm" EXACT [NCIT:C4755] synonym: "cartilaginous tumor" EXACT [NCIT:C4755] synonym: "cartilaginous tumour" EXACT OMO:0003005 [] synonym: "chondrogenic neoplasm" EXACT [NCIT:C4755] synonym: "chondrogenic tumor" EXACT [NCIT:C4755] synonym: "chondrogenic tumour" EXACT OMO:0003005 [] synonym: "chondromatous neoplasm" EXACT [NCIT:C4755] synonym: "chondromatous tumor" EXACT [NCIT:C4755] synonym: "chondromatous tumour" EXACT OMO:0003005 [] synonym: "neoplasm of cartilage" EXACT [NCIT:C4755] synonym: "neoplasm of the cartilage" EXACT [NCIT:C4755] synonym: "tumor of cartilage" EXACT [NCIT:C4755] synonym: "tumor of the cartilage" EXACT [NCIT:C4755] synonym: "tumour of cartilage" EXACT OMO:0003005 [] synonym: "tumour of the cartilage" EXACT OMO:0003005 [] xref: NCIT:C4755 {source="MONDO:equivalentTo"} xref: UMLS:C0476147 {source="MONDO:equivalentTo", source="NCIT:C4755"} is_a: MONDO:0002616 {source="NCIT:C4755"} ! mesenchymal cell neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0476147 property_value: exactMatch NCIT:C4755 [Term] id: MONDO:0024470 name: benign chondrogenic neoplasm def: "A non-metastasizing cartilaginous matrix-producing neoplasm characterized by the presence of neoplastic chondrocytes. Representative examples include osteochondroma and chondroma." [NCIT:C8592] synonym: "benign cartilaginous neoplasm" EXACT [NCIT:C8592] synonym: "benign cartilaginous tumor" EXACT [NCIT:C8592] synonym: "benign cartilaginous tumour" EXACT OMO:0003005 [] synonym: "benign chondrogenic neoplasm" EXACT [NCIT:C8592] synonym: "benign chondrogenic tumor" EXACT [NCIT:C8592] synonym: "benign chondrogenic tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of cartilage" EXACT [NCIT:C8592] synonym: "benign neoplasm of the cartilage" EXACT [NCIT:C8592] synonym: "benign tumor of cartilage" EXACT [NCIT:C8592] synonym: "benign tumor of the cartilage" EXACT [NCIT:C8592] synonym: "benign tumour of cartilage" EXACT OMO:0003005 [] synonym: "benign tumour of the cartilage" EXACT OMO:0003005 [] synonym: "chondrogenic neoplasm, benign" EXACT [MONDO:patterns/benign] xref: NCIT:C8592 {source="MONDO:equivalentTo"} xref: SCTID:722690001 {source="MONDO:equivalentTo"} xref: UMLS:C0852519 {source="MONDO:equivalentTo", source="NCIT:C8592"} is_a: EFO:0002422 ! benign neoplasm is_a: MONDO:0024469 {source="MONDO:Redundant", source="NCIT:C8592"} ! chondrogenic neoplasm property_value: exactMatch http://identifiers.org/snomedct/722690001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0852519 property_value: exactMatch NCIT:C8592 [Term] id: MONDO:0024474 name: intraepithelial neoplasia def: "A precancerous neoplastic process that affects the squamous, glandular, or transitional cell epithelium without evidence of invasion. According to the degree of nuclear atypia, number of mitotic figures, and presence of architectural distortion, it is classified as low grade (mild dysplasia) or high grade (moderate or severe dysplasia)." [NCIT:C8366] synonym: "epithelial dysplasia" EXACT [NCIT:C8366] synonym: "intraepithelial neoplasia" EXACT [NCIT:C8366] synonym: "intraepithelial neoplasm" EXACT [NCIT:C8366] xref: NCIT:C8366 {source="MONDO:equivalentTo"} is_a: EFO:0006858 {source="NCIT:C8366"} ! epithelial neoplasm is_a: MONDO:0021074 {source="NCIT:C8366"} ! precancerous condition property_value: exactMatch NCIT:C8366 [Term] id: MONDO:0024475 name: squamous cell intraepithelial neoplasia synonym: "sil" BROAD [NCIT:C8334] synonym: "SIN" BROAD ABBREVIATION [NCIT:C8334] synonym: "squamous cell intraepithelial neoplasia" EXACT [NCIT:C8334] synonym: "squamous intraepithelial lesion" EXACT [NCIT:C8334] xref: NCIT:C8334 {source="MONDO:equivalentTo"} is_a: MONDO:0002532 {source="NCIT:C8334"} ! squamous cell neoplasm is_a: MONDO:0024474 {source="MONDO:Redundant", source="NCIT:C8334"} ! intraepithelial neoplasia property_value: exactMatch NCIT:C8334 [Term] id: MONDO:0024476 name: epithelial neoplasm of rectum def: "A epithelial neoplasm that involves the rectum." [MONDO:patterns/location] synonym: "rectal epithelial neoplasm" EXACT [] synonym: "rectal epithelial tumor" EXACT [] synonym: "rectal epithelial tumour" EXACT OMO:0003005 [] synonym: "rectum epithelial neoplasm" EXACT [MONDO:patterns/location] is_a: EFO:0006858 ! epithelial neoplasm is_a: MONDO:0002165 ! rectal neoplasm [Term] id: MONDO:0024477 name: liver and intrahepatic bile duct neoplasm def: "A benign or malignant neoplasm that affects the liver parenchyma or intrahepatic bile ducts. Representative examples of benign neoplasms include hepatocellular adenoma, and bile duct adenoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, and lymphoma." [NCIT:C7103] synonym: "epithelial hepatic and intrahepatic bile duct neoplasm" EXACT [DOID:916] synonym: "hepatic and intrahepatic bile duct neoplasm" EXACT [NCIT:C7103] synonym: "liver and intrahepatic bile duct epithelial neoplasm" EXACT [NCIT:C7106] synonym: "liver and intrahepatic bile duct neoplasm" EXACT [NCIT:C7103] synonym: "liver neoplasm" EXACT [MONDO:0004721] synonym: "liver neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "liver tumor" EXACT [MONDO:patterns/neoplasm] synonym: "liver tumour" EXACT OMO:0003005 [] synonym: "neoplasm of liver" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of liver" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of liver" EXACT OMO:0003005 [] xref: DOID:916 {source="MONDO:equivalentTo"} xref: EFO:1001513 {source="MONDO:equivalentTo"} xref: NCIT:C7103 {source="MONDO:equivalentTo", source="DOID:916"} xref: NCIT:C7106 {source="MONDO:equivalentTo", source="DOID:916"} xref: ONCOTREE:LIVER {source="MONDO:equivalentTo"} xref: SCTID:126851005 {source="MONDO:equivalentTo"} xref: UMLS:C0023903 {source="MONDO:equivalentTo"} xref: UMLS:C1333976 {source="NCIT:C7103", source="MONDO:equivalentTo", source="DOID:916", source="MONDO:directSiblingOf"} is_a: EFO:0001421 ! liver disease is_a: EFO:0003769 ! endocrine neoplasm is_a: EFO:0008550 {source="DOID:916", source="MONDO:Redundant", source="NCIT:C7103", source="NCIT:C7106/inferred"} ! Hepatobiliary Neoplasm property_value: exactMatch DOID:916 property_value: exactMatch http://identifiers.org/snomedct/126851005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023903 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333976 property_value: exactMatch NCIT:C7103 property_value: exactMatch NCIT:C7106 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5166 xsd:anyURI [Term] id: MONDO:0024478 name: mesenchymal hamartoma synonym: "mesenchymal hamartoma" EXACT [NCIT:C40427] xref: NCIT:C40427 {source="MONDO:equivalentTo"} xref: UMLS:C0334090 {source="NCIT:C40427", source="MONDO:equivalentTo"} is_a: EFO:1000634 {source="NCIT:C40427"} ! hamartoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334090 property_value: exactMatch NCIT:C40427 [Term] id: MONDO:0024479 name: epithelial tumor of colon def: "A epithelial neoplasm that involves the colon." [MONDO:patterns/location] synonym: "colon epithelial neoplasm" EXACT [MONDO:patterns/location] is_a: EFO:0004288 ! colonic neoplasm is_a: EFO:0006858 ! epithelial neoplasm [Term] id: MONDO:0024481 name: skin appendage disorder def: "A disease that involves the cutaneous appendage." [MONDO:patterns/location] synonym: "cutaneous appendage disease" EXACT [MONDO:patterns/location] synonym: "cutaneous appendage disease or disorder" EXACT [MONDO:patterns/location] synonym: "disease of cutaneous appendage" EXACT [MONDO:patterns/location_top] synonym: "disease of epidermal appendage" RELATED [] synonym: "disease of epidermal appendages" RELATED [] synonym: "disease or disorder of cutaneous appendage" EXACT [] synonym: "disorder of cutaneous appendage" EXACT [MONDO:patterns/location_top] synonym: "disorder of skin appendage" EXACT [] xref: ICD10CM:L60-L75 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: SCTID:238714008 {source="MONDO:equivalentTo"} xref: UMLS:C0037272 {source="MONDO:equivalentTo"} is_a: EFO:0010285 ! integumentary system disease property_value: exactMatch http://identifiers.org/snomedct/238714008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037272 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L60-L75 [Term] id: MONDO:0024482 name: eccrine sweat gland hamartoma def: "A hamartoma characterized by localized eccrine sweat gland malformation." [NCIT:C5564] synonym: "eccrine sweat gland hamartoma" EXACT [NCIT:C5564] synonym: "eccrine sweat gland hamartoma (disease)" EXACT [MONDO:patterns/location] synonym: "hamartoma of eccrine sweat gland" EXACT [NCIT:C5564] synonym: "hamartoma of the eccrine sweat gland" EXACT [NCIT:C5564] xref: NCIT:C5564 {source="MONDO:equivalentTo"} xref: UMLS:C1333372 {source="MONDO:equivalentTo", source="NCIT:C5564"} is_a: MONDO:0002090 ! eccrine sweat gland neoplasm is_a: MONDO:0021539 {source="MONDO:Redundant", source="NCIT:C5564"} ! hamartoma of skin appendage property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333372 property_value: exactMatch NCIT:C5564 [Term] id: MONDO:0024483 name: urothelial hyperplasia def: "Hyperplasia of the transitional epithelium of the urinary tract. Morphologically it is subdivided into flat and papillary hyperplasia. -- 2003" [NCIT:C27877] synonym: "urothelial hyperplasia" EXACT [NCIT:C27877] synonym: "urothelium hyperplasia" EXACT [MONDO:patterns/location] xref: NCIT:C27877 {source="MONDO:equivalentTo"} is_a: EFO:0000536 {source="MONDO:Redundant", source="NCIT:C27877"} ! hyperplasia is_a: EFO:0009690 ! urinary system disease property_value: exactMatch NCIT:C27877 [Term] id: MONDO:0024488 name: tumor grading characteristic def: "A modifier that can be applied to a tumor class describing abnormal tumor histology or morphology. It is an indicator of how quickly a tumor is likely to grow and spread" [https://www.cancer.gov/about-cancer/diagnosis-staging/prognosis/tumor-grade-fact-sheet] is_a: EFO:0009813 ! disease characteristic [Term] id: MONDO:0024489 name: general tumor grading characteristic def: "A term that refers to the cellular differentiation of a malignant cellular infiltrate. A cancer is defined through grades I-IV (or 1-4), or as well, moderately, poorly differentiated or undifferentiated." [NCIT:C28076] synonym: "disease grade qualifier" EXACT [NCIT:C28076] xref: NCIT:C28076 {source="MONDO:equivalentTo"} is_a: MONDO:0024488 {source="https://orcid.org/0000-0001-5208-3432"} ! tumor grading characteristic property_value: exactMatch NCIT:C28076 [Term] id: MONDO:0024491 name: tumor grade 1, general grading system def: "A morphologic qualifier indicating that a cancerous lesion is well differentiated." [NCIT:C28077] synonym: "G1" EXACT ABBREVIATION [NCIT:C28077] synonym: "grade 1" EXACT [NCIT:C28077] synonym: "grade I" EXACT [NCIT:C28077] synonym: "low grade" EXACT [] synonym: "well differentiated" EXACT [] xref: LOINC:LA9629-2 xref: NCIT:C28077 {source="MONDO:equivalentTo"} xref: UMLS:C0475269 {source="MONDO:equivalentTo"} is_a: MONDO:0024495 ! tumor grade 1 or 2, general grading system property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0475269 property_value: exactMatch NCIT:C28077 [Term] id: MONDO:0024492 name: tumor grade 2, general grading system def: "A morphologic qualifier indicating that a cancerous lesion is moderately differentiated." [NCIT:C28078] synonym: "G2" EXACT ABBREVIATION [NCIT:C28078] synonym: "grade 2" EXACT [NCIT:C28078] synonym: "grade II" EXACT [NCIT:C28078] synonym: "intermediate grade" EXACT [] synonym: "moderately differentiated" EXACT [] xref: EFO:0005746 {source="MONDO:equivalentTo"} xref: NCIT:C28078 {source="MONDO:equivalentTo"} is_a: MONDO:0024495 ! tumor grade 1 or 2, general grading system is_a: MONDO:0024496 ! tumor grade 2 or 3, general grading system property_value: exactMatch NCIT:C28078 [Term] id: MONDO:0024493 name: tumor grade 3, general grading system def: "A morphologic qualifier indicating that a cancerous lesion is poorly differentiated." [NCIT:C28079] synonym: "G3" EXACT ABBREVIATION [NCIT:C28079] synonym: "grade 3" EXACT [NCIT:C28079] synonym: "grade III" EXACT [NCIT:C28079] synonym: "high grade" BROAD [] synonym: "poorly differentiated" EXACT [] xref: NCIT:C28079 {source="MONDO:equivalentTo"} xref: UMLS:C0475271 {source="MONDO:equivalentTo"} is_a: MONDO:0024496 ! tumor grade 2 or 3, general grading system is_a: MONDO:0024497 ! tumor grade 3 or 4, general grading system property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0475271 property_value: exactMatch NCIT:C28079 [Term] id: MONDO:0024494 name: tumor grade 4, general grading system def: "A morphologic qualifier indicating that a cancerous lesion is undifferentiated." [NCIT:C28082] synonym: "G4" EXACT ABBREVIATION [NCIT:C28082] synonym: "grade 4" EXACT [NCIT:C28082] synonym: "grade IV" EXACT [NCIT:C28082] synonym: "high grade" BROAD [] synonym: "undifferentiated" EXACT [] xref: NCIT:C28082 {source="MONDO:equivalentTo"} is_a: MONDO:0024497 ! tumor grade 3 or 4, general grading system property_value: exactMatch NCIT:C28082 [Term] id: MONDO:0024495 name: tumor grade 1 or 2, general grading system synonym: "grade 1/2" EXACT [MONDO:cjm] is_a: MONDO:0024489 ! general tumor grading characteristic union_of: MONDO:0024491 ! tumor grade 1, general grading system union_of: MONDO:0024492 ! tumor grade 2, general grading system [Term] id: MONDO:0024496 name: tumor grade 2 or 3, general grading system def: "A morphologic qualifier indicating that a neoplastic lesion is moderately to poorly differentiated." [NCIT:C94678] synonym: "grade 2/3" EXACT [NCIT:C94678] xref: NCIT:C94678 {source="MONDO:equivalentTo"} is_a: MONDO:0024489 {source="NCIT:C94678"} ! general tumor grading characteristic union_of: MONDO:0024492 ! tumor grade 2, general grading system union_of: MONDO:0024493 ! tumor grade 3, general grading system property_value: exactMatch NCIT:C94678 [Term] id: MONDO:0024497 name: tumor grade 3 or 4, general grading system def: "Used to describe tumor samples that exhibit poorly differentiated or undifferentiated cells. They are generally expected to be fast growing and aggressive." [NCIT:C14158] synonym: "grade 3/4" EXACT [MONDO:cjm] synonym: "high grade" EXACT [MONDO:cjm, NCIT:C14158] xref: NCIT:C14158 {source="MONDO:equivalentTo"} is_a: MONDO:0024489 {source="NCIT:C14158/inferred"} ! general tumor grading characteristic union_of: MONDO:0024493 ! tumor grade 3, general grading system union_of: MONDO:0024494 ! tumor grade 4, general grading system property_value: exactMatch NCIT:C14158 [Term] id: MONDO:0024498 name: glioma susceptibility 1 subset: predisposition synonym: "astrocytoma" RELATED [OMIM:137800] synonym: "ependymoma" RELATED [OMIM:137800] synonym: "glioblastoma multiforme" RELATED [OMIM:137800] synonym: "glioblastoma, somatic" EXACT [OMIM:137800, OMIM:genemap2] synonym: "glioma of brain, familial" RELATED [OMIM:137800] synonym: "glioma susceptibility 1" EXACT [OMIM:137800] synonym: "glioma susceptibility 1, autosomal dominant, somatic mutation" EXACT [OMIM:137800, OMIM:genemap2] synonym: "glioma, susceptibility to, somatic" EXACT [OMIM:137800, OMIM:genemap2] synonym: "GLM1" EXACT ABBREVIATION [OMIM:137800] synonym: "oligodendroglioma" RELATED [OMIM:137800] synonym: "subependymoma" RELATED [OMIM:137800] xref: OMIM:137800 {source="MONDO:equivalentTo"} xref: Orphanet:251627 {source="MONDO:relatedTo", source="OMIM:137800"} xref: Orphanet:251630 {source="MONDO:relatedTo", source="OMIM:137800"} xref: Orphanet:301 {source="MONDO:relatedTo", source="OMIM:137800"} xref: Orphanet:360 {source="MONDO:relatedTo", source="OMIM:137800"} xref: Orphanet:94 {source="MONDO:relatedTo", source="OMIM:137800"} xref: UMLS:C0004114 {source="MONDO:relatedTo", source="OMIM:137800"} xref: UMLS:C0014474 {source="MONDO:relatedTo", source="OMIM:137800"} xref: UMLS:C0206725 {source="MONDO:relatedTo", source="OMIM:137800"} xref: UMLS:C1621958 {source="MONDO:relatedTo", source="OMIM:137800"} is_a: MONDO:0100242 {source="OMIM:137800"} ! glioma susceptibility property_value: exactMatch https://omim.org/entry/137800 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0024499 name: vascular bone neoplasm def: "A benign, intermediate, or malignant vascular neoplasm that arises from the bone." [NCIT:C6478] synonym: "bone vascular neoplasm" EXACT [NCIT:C6478] synonym: "bone vascular tumor" EXACT [NCIT:C6478] synonym: "bone vascular tumour" EXACT OMO:0003005 [] synonym: "osseous vascular neoplasm" EXACT [NCIT:C6478] synonym: "osseous vascular tumor" EXACT [NCIT:C6478] synonym: "osseous vascular tumour" EXACT OMO:0003005 [] synonym: "vascular bone neoplasm" EXACT [NCIT:C6478] synonym: "vascular neoplasm of bone" EXACT [NCIT:C6478] synonym: "vascular neoplasm of the bone" EXACT [NCIT:C6478] synonym: "vascular tumor of bone" EXACT [NCIT:C6478] synonym: "vascular tumor of the bone" EXACT [NCIT:C6478] synonym: "vascular tumour of bone" EXACT OMO:0003005 [] synonym: "vascular tumour of the bone" EXACT OMO:0003005 [] xref: NCIT:C6478 {source="MONDO:equivalentTo"} xref: UMLS:C1336946 {source="MONDO:equivalentTo", source="NCIT:C6478"} is_a: EFO:0003820 ! bone neoplasm is_a: MONDO:0024296 {source="MONDO:Entailed", source="NCIT:C6478"} ! vascular neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336946 property_value: exactMatch NCIT:C6478 [Term] id: MONDO:0024500 name: duodenal neuroendocrine neoplasm def: "A neuroendocrine neoplasm that involves the duodenum." [MONDO:patterns/location] synonym: "duodenum NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "duodenum neuroendocrine neoplasm" EXACT [MONDO:patterns/location] synonym: "duodenum neuroendocrine tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "duodenum neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "duodenum neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "neuroendocrine neoplasm of duodenum" EXACT [MONDO:patterns/neuroendocrine_neoplasm] is_a: EFO:1001928 ! small intestine neuroendocrine tumor is_a: MONDO:0021375 ! tumor of duodenum [Term] id: MONDO:0024501 name: appendix neuroendocrine neoplasm def: "A neoplasm with neuroendocrine differentiation that arises from the appendix. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." [NCIT:C60709] synonym: "appendix neuroendocrine neoplasm" EXACT [NCIT:C60709] synonym: "neuroendocrine neoplasm of vermiform appendix" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm] synonym: "vermiform appendix NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "vermiform appendix neuroendocrine neoplasm" EXACT [MONDO:patterns/location] synonym: "vermiform appendix neuroendocrine tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "vermiform appendix neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "vermiform appendix neuroendocrine tumour" EXACT OMO:0003005 [] xref: NCIT:C60709 {source="MONDO:equivalentTo"} is_a: EFO:0003880 {source="MONDO:Redundant", source="NCIT:C60709"} ! appendiceal neoplasm is_a: MONDO:0002882 ! colon neuroendocrine neoplasm property_value: exactMatch NCIT:C60709 [Term] id: MONDO:0024502 name: gallbladder neuroendocrine neoplasm def: "A neoplasm with neuroendocrine differentiation that arises from the gallbladder. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." [NCIT:C96917] synonym: "gall bladder NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "gall bladder neuroendocrine neoplasm" EXACT [MONDO:patterns/location] synonym: "gall bladder neuroendocrine tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "gall bladder neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "gall bladder neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "gallbladder neuroendocrine neoplasm" EXACT [NCIT:C96917] synonym: "neuroendocrine neoplasm of gall bladder" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm] xref: NCIT:C96917 {source="MONDO:equivalentTo"} xref: UMLS:C3273115 {source="MONDO:equivalentTo", source="NCIT:C96917"} is_a: EFO:0004606 {source="MONDO:Redundant", source="NCIT:C96917"} ! gallbladder neoplasm is_a: MONDO:0024503 ! digestive system neuroendocrine neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3273115 property_value: exactMatch NCIT:C96917 [Term] id: MONDO:0024503 name: digestive system neuroendocrine neoplasm def: "A neoplasm with neuroendocrine differentiation arising from the digestive system. It includes neuroendocrine tumors (well-differentiated endocrine tumors or carcinoid tumors and well differentiated endocrine carcinomas) and neuroendocrine carcinomas (poorly differentiated neuroendocrine carcinomas, small cell carcinomas, and large cell neuroendocrine carcinomas)." [NCIT:C27721] subset: disease_grouping subset: gard_rare {source="GARD:0002437"} subset: ordo_group_of_disorders {source="Orphanet:100092"} synonym: "alimentary part of gastrointestinal system NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "alimentary part of gastrointestinal system neuroendocrine neoplasm" EXACT [MONDO:patterns/location] synonym: "alimentary part of gastrointestinal system neuroendocrine tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "alimentary part of gastrointestinal system neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "alimentary part of gastrointestinal system neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "carcinoid tumor" RELATED [PMID:24714698, Wikipedia:Neuroendocrine_tumor#Gastroenteropancreatic_neuroendocrine_tumors_(GEP-NET)] synonym: "carcinoid tumor of digestive system" EXACT [MONDO:cjm] synonym: "carcinoid tumour" RELATED OMO:0003005 [] synonym: "carcinoid tumour of digestive system" EXACT OMO:0003005 [] synonym: "digestive system NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "digestive system neuroendocrine neoplasm" EXACT [MONDO:patterns/location, NCIT:C27721] synonym: "digestive system neuroendocrine tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "digestive system neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "digestive system neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "gastro-enteropancreatic neuroendocrine tumor" EXACT [MONDO:0023217] synonym: "gastro-enteropancreatic neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "gastroenteropancreatic endocrine tumor" EXACT [Orphanet:100092] synonym: "gastroenteropancreatic endocrine tumour" EXACT OMO:0003005 [] synonym: "gastroenteropancreatic neuroendocrine neoplasm" EXACT [GARD:0002437, NCIT:C27721] synonym: "gastrointestinal neuroendocrine neoplasm" EXACT [NCIT:C27721] synonym: "gastrointestinal system neuroendocrine neoplasm" EXACT [NCIT:C27721] synonym: "GEP tumors" RELATED [GARD:0002437] synonym: "GEP tumours" RELATED OMO:0003005 [] synonym: "GEP-NEN" RELATED [Orphanet:100092] synonym: "GEP-NET" RELATED [Orphanet:100092] synonym: "neuroendocrine neoplasm of alimentary part of gastrointestinal system" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm] synonym: "neuroendocrine neoplasm of digestive system" EXACT [MONDO:patterns/neuroendocrine_neoplasm] xref: MESH:C535650 {source="MONDO:equivalentTo"} xref: NCIT:C27721 {source="MONDO:equivalentTo"} xref: Orphanet:100092 {source="MONDO:equivalentTo"} xref: UMLS:CN197371 {source="MONDO:equivalentTo"} is_a: EFO:0000405 ! digestive system disease is_a: EFO:0008549 {source="MONDO:Redundant", source="NCIT:C27721"} ! digestive system neoplasm is_a: EFO:1001901 {source="MONDO:Redundant", source="NCIT:C27721"} ! neuroendocrine neoplasm property_value: exactMatch http://identifiers.org/mesh/C535650 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197371 property_value: exactMatch NCIT:C27721 property_value: exactMatch Orphanet:100092 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2437/gastro-enteropancreatic-neuroendocrine-tumor xsd:anyURI {source="GARD:0002437"} [Term] id: MONDO:0024512 name: spondyloarthropathy, susceptibility to subset: predisposition synonym: "SPDA" EXACT ABBREVIATION [MONDO:cjm] xref: OMIMPS:106300 {source="MONDO:equivalentTo"} xref: UMLS:CN118840 {source="MONDO:equivalentTo"} is_a: MONDO:0020573 ! inherited disease susceptibility intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: predisposes_towards EFO:0000706 ! spondyloarthropathy relationship: predisposes_towards EFO:0000706 ! spondyloarthropathy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN118840 property_value: exactMatch https://omim.org/phenotypicSeries/PS106300 [Term] id: MONDO:0024516 name: familial acne inversa def: "An instance of hidradenitis suppurativa that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] synonym: "ACNINV" EXACT ABBREVIATION [MONDO:cjm] synonym: "familial hidradenitis suppurativa" EXACT [MONDO:cjm] synonym: "hereditary hidradenitis suppurativa" EXACT [MONDO:patterns/hereditary] xref: OMIMPS:142690 {source="MONDO:equivalentTo"} is_a: EFO:1000710 {source="MONDO:Redundant"} ! hidradenitis suppurativa is_a: MONDO:0100118 ! hereditary skin disorder intersection_of: EFO:1000710 ! hidradenitis suppurativa intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch https://omim.org/phenotypicSeries/PS142690 [Term] id: MONDO:0024519 name: renal hypodysplasia/aplasia 1 synonym: "hereditary renal aplasia" RELATED [OMIM:191830] synonym: "renal adysplasia" RELATED [OMIM:191830] synonym: "renal agenesis" RELATED [OMIM:191830] synonym: "renal aplasia" RELATED [OMIM:191830] synonym: "renal dysplasia, megalocystis, and sirenomelia" RELATED [GARD:0004791] synonym: "renal hypodysplasia/aplasia 1" EXACT [OMIM:191830] synonym: "RHDA1" EXACT ABBREVIATION [OMIM:191830] synonym: "Selig Benacerraf Greene syndrome" RELATED [GARD:0004791] xref: OMIM:191830 {source="MONDO:equivalentTo"} is_a: MONDO:0018470 {source="OMIM:191830"} ! renal agenesis property_value: exactMatch https://omim.org/entry/191830 [Term] id: MONDO:0024525 name: Fanconi renotubular syndrome 1 synonym: "adult Fanconi syndrome" RELATED [OMIM:134600] synonym: "DeToni-Debré-Fanconi syndrome" EXACT [Orphanet:3337] synonym: "Fanconi renotubular syndrome" RELATED [OMIM:134600] synonym: "Fanconi renotubular syndrome 1" EXACT [OMIM:134600] synonym: "Fanconi syndrome without cystinosis" RELATED [OMIM:134600] synonym: "FRTS1" EXACT ABBREVIATION [OMIM:134600] synonym: "Luder-Sheldon syndrome" RELATED [OMIM:134600] synonym: "primary Fanconi renal syndrome" EXACT [Orphanet:3337] synonym: "primary Fanconi renotubular syndrome" EXACT [Orphanet:3337] synonym: "renal Fanconi syndrome" RELATED [OMIM:134600] xref: DOID:0080757 {source="MONDO:equivalentTo"} xref: OMIM:134600 {source="MONDO:equivalentTo"} xref: Orphanet:3337 {source="MONDO:equivalentTo", source="OMIM:134600"} is_a: MONDO:0007600 ! primary Fanconi syndrome property_value: exactMatch DOID:0080757 property_value: exactMatch https://omim.org/entry/134600 property_value: exactMatch Orphanet:3337 [Term] id: MONDO:0024528 name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 def: "Any autosomal dominant progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant progressive external ophthalmoplegia caused by mutation in POLG" EXACT [MONDO:design_pattern] synonym: "PEOA1" EXACT ABBREVIATION [OMIM:157640] synonym: "POLG autosomal dominant progressive external ophthalmoplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1" EXACT [OMIM:157640] synonym: "progressive external ophthalmoplegia, autosomal dominant 1" EXACT [OMIM:157640] xref: DOID:0111521 {source="MONDO:equivalentTo"} xref: OMIM:157640 {source="MONDO:equivalentTo"} xref: UMLS:C1834846 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:157640"} is_a: MONDO:0008003 {source="MONDO:Redundant"} ! autosomal dominant progressive external ophthalmoplegia property_value: exactMatch DOID:0111521 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834846 property_value: exactMatch https://omim.org/entry/157640 [Term] id: MONDO:0024546 name: hypertrophic osteoarthropathy, primary, autosomal recessive, 1 def: "Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the HPGD gene." [MONDO:patterns/disease_series_by_gene] synonym: "Cranioosteoarthropathy" RELATED [OMIM:259100] synonym: "Currarino idiopathic osteoarthropathy" RELATED [OMIM:259100] synonym: "familial idiopathic osteoarthropathy of childhood" RELATED [OMIM:259100] synonym: "HPGD primary hypertrophic osteoarthropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hypertrophic osteoarthropathy, primary, autosomal recessive 1" EXACT [OMIM:259100, OMIM:genemap2] synonym: "hypertrophic osteoarthropathy, primary, autosomal recessive, 1" EXACT [OMIM:259100] synonym: "pachydermoperiostosis, autosomal recessive" RELATED [OMIM:259100] synonym: "PDP, autosomal recessive" RELATED [OMIM:259100] synonym: "Pho, autosomal recessive" RELATED [OMIM:259100] synonym: "PHOAR1" RELATED ABBREVIATION [OMIM:259100] synonym: "primary hypertrophic osteoarthropathy caused by mutation in HPGD" EXACT [MONDO:design_pattern] synonym: "Touraine-Solente-Gole syndrome" RELATED [OMIM:259100] xref: OMIM:259100 {source="MONDO:equivalentTo"} xref: Orphanet:1525 {source="OMIM:259100", source="MONDO:directSiblingOf"} is_a: MONDO:0016620 {source="MONDO:0024546/inferred", source="MONDO:Redundant", source="OMIM:259100"} ! primary hypertrophic osteoarthropathy is_a: MONDO:0800084 {source="PMID:31633310"} ! primary bone dysplasia with increased bone density property_value: exactMatch https://omim.org/entry/259100 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0024548 name: peeling skin syndrome 1 def: "Any peeling skin syndrome in which the cause of the disease is a mutation in the CDSN gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_clinical_subtype {source="Orphanet:263553"} synonym: "CDSN peeling skin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "deciduous skin" RELATED [OMIM:270300] synonym: "generalised deciduous skin type B" EXACT OMO:0003005 [] synonym: "generalised peeling skin syndrome type B" EXACT OMO:0003005 [] synonym: "generalized deciduous skin type B" EXACT [Orphanet:263553] synonym: "generalized peeling skin syndrome type B" EXACT [Orphanet:263553] synonym: "inflammatory peeling skin syndrome" EXACT [Orphanet:263553] synonym: "keratolysis exfoliativa congenita" RELATED [OMIM:270300] synonym: "peeling skin syndrome 1" EXACT [OMIM:270300] synonym: "peeling skin syndrome caused by mutation in CDSN" EXACT [MONDO:design_pattern] synonym: "peeling skin syndrome type B" EXACT [MONDO:0016992] synonym: "PSS" RELATED ABBREVIATION [OMIM:270300] synonym: "PSS type B" EXACT [Orphanet:263553] synonym: "PSS1" RELATED ABBREVIATION [OMIM:270300] synonym: "skin peeling, familial continuous generalised" RELATED OMO:0003005 [] synonym: "skin peeling, familial continuous generalized" RELATED [OMIM:270300] xref: OMIM:270300 {source="MONDO:equivalentTo", source="Orphanet:263553", source="Orphanet:263553/ntbt"} xref: Orphanet:263553 {source="MONDO:equivalentTo"} xref: UMLS:C3891449 {source="MONDO:equivalentObsolete", source="OMIM:270300"} xref: UMLS:CN202306 {source="MONDO:equivalentTo"} is_a: MONDO:0010033 {source="Orphanet:263553"} ! generalized peeling skin syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202306 property_value: exactMatch https://omim.org/entry/270300 property_value: exactMatch Orphanet:263553 [Term] id: MONDO:0024568 name: infantile liver failure syndrome 1 def: "Any infantile liver failure in which the cause of the disease is a mutation in the LARS gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:370088"} synonym: "acute infantile liver failure - multisystemic involvement syndrome" RELATED [] synonym: "ILFS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615438] synonym: "infantile liver failure caused by mutation in LARS" EXACT [] synonym: "infantile liver failure caused by mutation in Lars" EXACT [MONDO:design_pattern] synonym: "infantile liver failure syndrome 1" EXACT [MONDO:Lexical, OMIM:615438] synonym: "infantile liver failure syndrome type 1" EXACT [MONDORULE:1, OMIM:615438] synonym: "LARS infantile liver failure" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Lars infantile liver failure" EXACT [MONDO:design_pattern] xref: DOID:0080717 {source="MONDO:equivalentTo"} xref: OMIM:615438 {source="MONDO:equivalentTo", source="Orphanet:370088", source="Orphanet:370088/e"} xref: Orphanet:370088 {source="MONDO:equivalentTo", source="OMIM:615438"} xref: UMLS:C3809522 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615438"} is_a: MONDO:0000023 {source="DC-OMIM:615438", source="MONDO:Redundant", source="OMIM:615438"} ! infantile liver failure property_value: exactMatch DOID:0080717 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809522 property_value: exactMatch https://omim.org/entry/615438 property_value: exactMatch Orphanet:370088 [Term] id: MONDO:0024572 name: immunodeficiency-related disorder def: "A non-neoplastic or neoplastic disorder that develops in a patient with immunodeficiency. Representative examples include AIDS-related disorders and disorders that develop following organ transplantation." [NCIT:C35686] synonym: "immunodeficiency-related disorder" EXACT [NCIT:C35686] synonym: "Immunodepression-related disorder" EXACT [NCIT:C35686] synonym: "Immunosuppression disorders" EXACT [NCIT:C35686] synonym: "Immunosuppression-related disorder" EXACT [NCIT:C35686] xref: NCIT:C35686 {source="MONDO:equivalentTo"} xref: UMLS:C1334159 {source="MONDO:equivalentTo", source="NCIT:C35686"} is_a: EFO:0000540 ! immune system disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334159 property_value: exactMatch NCIT:C35686 [Term] id: MONDO:0024573 name: familial hypertrophic cardiomyopathy def: "Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions." [NCIT:C84773] synonym: "cardiomyopathy, familial hypertrophic" EXACT [OMIMPS:192600] synonym: "familial hypertrophic cardiomyopathy" EXACT [NCIT:C84773] synonym: "familila or idiopathic hypertrophic obstructive cardiomyopathy" EXACT [Orphanet:155] synonym: "hereditary hypertrophic cardiomyopathy" EXACT [MONDO:patterns/hereditary] synonym: "hypertrophic familial cardiomyopathy" EXACT [NCIT:C84773] xref: DOID:0080326 {source="MONDO:equivalentTo"} xref: MESH:D024741 {source="MONDO:equivalentTo"} xref: NCIT:C84773 {source="MONDO:equivalentTo"} xref: OMIMPS:192600 {source="MONDO:equivalentTo"} xref: Orphanet:155 {source="MONDO:equivalentObsolete"} xref: SCTID:471885006 {source="MONDO:equivalentTo"} is_a: EFO:0000538 {source="MESH:D024741", source="MONDO:Redundant", source="NCIT:C84773"} ! hypertrophic cardiomyopathy is_a: EFO:0002945 ! familial cardiomyopathy intersection_of: EFO:0000538 ! hypertrophic cardiomyopathy intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch DOID:0080326 property_value: exactMatch http://identifiers.org/mesh/D024741 property_value: exactMatch http://identifiers.org/snomedct/471885006 property_value: exactMatch https://omim.org/phenotypicSeries/PS192600 property_value: exactMatch NCIT:C84773 [Term] id: MONDO:0024574 name: von Willebrand disease (hereditary or acquired) def: "Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include bruises, nose bleeding, gum bleeding following a dental procedure, heavy menstrual bleeding, and gastrointestinal bleeding." [NCIT:C68677] synonym: "von Willebrand disease" RELATED [] synonym: "von Willebrand disorder" EXACT [NCIT:C68677] synonym: "von Willebrand's disease" EXACT [NCIT:C68677] synonym: "VWD" EXACT ABBREVIATION [] xref: ICD10CM:D68.0 {source="MONDO:equivalentTo"} xref: ICD9:286.4 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D014842 {source="MONDO:equivalentTo"} xref: NCIT:C68677 {source="MONDO:equivalentTo"} xref: SCTID:128105004 {source="MONDO:equivalentTo"} is_a: MONDO:0002242 {source="MESH:D014842"} ! coagulation protein disease property_value: exactMatch http://identifiers.org/mesh/D014842 property_value: exactMatch http://identifiers.org/snomedct/128105004 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/D68.0 property_value: exactMatch NCIT:C68677 [Term] id: MONDO:0024582 name: male reproductive system neoplasm def: "A benign, borderline, or malignant neoplasm that affects the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign testicular Sertoli cell tumor, prostatic intraepithelial neoplasia, prostate carcinoma, testicular seminoma, and testicular embryonal carcinoma." [NCIT:C3054] synonym: "male reproductive organ neoplasm" EXACT [] synonym: "male reproductive organ tumor" EXACT [MONDO:patterns/neoplasm] synonym: "male reproductive organ tumour" EXACT OMO:0003005 [] synonym: "Male reproductive system neoplasm" EXACT [NCIT:C3054] synonym: "Male reproductive system tumor" EXACT [NCIT:C3054] synonym: "Male reproductive system tumour" EXACT OMO:0003005 [] synonym: "neoplasm of male reproductive organ" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of Male reproductive system" EXACT [NCIT:C3054] synonym: "neoplasm of the Male reproductive system" EXACT [NCIT:C3054] synonym: "tumor of male reproductive organ" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of Male reproductive system" EXACT [NCIT:C3054] synonym: "tumor of the Male reproductive system" EXACT [NCIT:C3054] synonym: "tumour of male reproductive organ" EXACT OMO:0003005 [] synonym: "tumour of Male reproductive system" EXACT OMO:0003005 [] synonym: "tumour of the Male reproductive system" EXACT OMO:0003005 [] xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C3054 {source="MONDO:equivalentTo"} xref: SCTID:126895004 {source="MONDO:equivalentTo"} is_a: EFO:0009555 {source="MONDO:Redundant", source="NCIT:C3054"} ! male reproductive system disease is_a: EFO:1000051 {source="MONDO:Redundant", source="NCIT:C3054"} ! reproductive system neoplasm property_value: exactMatch http://identifiers.org/snomedct/126895004 property_value: exactMatch NCIT:C3054 [Term] id: MONDO:0024610 name: parasitic skin disorder def: "Skin diseases caused by ARTHROPODS; HELMINTHS; or other parasites." [MESH:D012876] synonym: "disease, parasitic skin" RELATED [MESH:D012876] synonym: "diseases, parasitic skin" RELATED [MESH:D012876] synonym: "parasitic skin disease" EXACT [MESH:D012876] synonym: "parasitic skin diseases" RELATED [MESH:D012876] synonym: "skin disease, parasitic" RELATED [MESH:D012876] xref: MESH:D012876 {source="MONDO:equivalentTo"} xref: UMLS:C0037280 {source="MONDO:equivalentTo"} is_a: EFO:0001067 {source="MESH:D012876", source="MONDO:Redundant"} ! parasitic infection is_a: MONDO:0024294 {source="MESH:D012876", source="MONDO:Redundant"} ! skin disorder caused by infection property_value: exactMatch http://identifiers.org/mesh/D012876 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037280 [Term] id: MONDO:0024611 name: orbit neoplasm def: "A benign or malignant neoplasm that affects the orbit." [NCIT:C3290] synonym: "neoplasm of orbit" EXACT [NCIT:C3290] synonym: "neoplasm of orbit of skull" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the orbit" EXACT [NCIT:C3290] synonym: "orbit neoplasm" EXACT [NCIT:C3290] synonym: "orbit of skull neoplasm" EXACT [] synonym: "orbit of skull tumor" EXACT [MONDO:patterns/neoplasm] synonym: "orbit of skull tumour" EXACT OMO:0003005 [] synonym: "orbit tumor" EXACT [NCIT:C3290] synonym: "orbit tumour" EXACT OMO:0003005 [] synonym: "orbital neoplasm" EXACT [NCIT:C3290] synonym: "orbital neoplasms" EXACT [NCIT:C3290] synonym: "orbital tumor" EXACT [NCIT:C3290] synonym: "orbital tumour" EXACT OMO:0003005 [] synonym: "tumor of orbit" EXACT [NCIT:C3290] synonym: "tumor of orbit of skull" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the orbit" EXACT [NCIT:C3290] synonym: "tumour of orbit" EXACT OMO:0003005 [] synonym: "tumour of orbit of skull" EXACT OMO:0003005 [] synonym: "tumour of the orbit" EXACT OMO:0003005 [] xref: NCIT:C3290 {source="MONDO:equivalentTo"} is_a: EFO:0009664 ! disease of orbital region is_a: MONDO:0023369 ! disorder of facial skeleton is_a: MONDO:0024653 ! skull neoplasm property_value: exactMatch NCIT:C3290 [Term] id: MONDO:0024615 name: T-cell and NK-cell neoplasm synonym: "T-cell and NK-cell neoplasm" EXACT [NCIT:C27908] synonym: "T-cell neoplasm" EXACT [NCIT:C27908] xref: NCIT:C27908 {source="MONDO:equivalentTo"} xref: UMLS:C1336554 {source="NCIT:C27908", source="MONDO:equivalentTo"} is_a: EFO:0001642 {source="NCIT:C27908"} ! lymphoid neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336554 property_value: exactMatch NCIT:C27908 [Term] id: MONDO:0024618 name: poliovirus infection def: "An disease or disorder caused by infection with Enterovirus C." [MONDO:patterns/specific_infectious_disease_by_agent] comment: Editor note: TODO placeholder class for poliovirus in NCIT synonym: "Enterovirus C caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Enterovirus C disease or disorder" EXACT [] synonym: "Enterovirus C infectious disease" EXACT [] synonym: "human poliovirus infection" EXACT [] synonym: "infection caused by human poliovirus" EXACT [] xref: SCTID:721764008 {source="MONDO:equivalentTo"} xref: UMLS:C4303135 {source="MONDO:equivalentTo"} is_a: EFO:0007255 {source="MESH:D011051", source="MONDO:Redundant"} ! Enterovirus infectious disease property_value: exactMatch http://identifiers.org/snomedct/721764008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303135 [Term] id: MONDO:0024620 name: meningitis caused by poliovirus synonym: "meningitis caused by human poliovirus" EXACT [] synonym: "polio virus meningitis" RELATED [] xref: SCTID:721765009 {source="MONDO:equivalentTo"} xref: UMLS:C4303134 {source="MONDO:equivalentTo"} is_a: EFO:0000584 {source="MONDO:Redundant"} ! infectious meningitis is_a: MONDO:0024318 ! viral infection of central nervous system is_a: MONDO:0024618 ! poliovirus infection intersection_of: MONDO:0021108 ! meningitis intersection_of: MONDO:0024618 ! poliovirus infection property_value: exactMatch http://identifiers.org/snomedct/721765009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303134 [Term] id: MONDO:0024621 name: serous cystadenocarcinoma def: "A malignant serous cystic neoplasm usually involving the ovary or the pancreas. It is characterized by the presence of invasive malignant glandular epithelial cells which often form papillary structures." [NCIT:C3778] synonym: "serous adenocarcinoma" BROAD [NCIT:C3778] synonym: "serous cystadenocarcinoma" EXACT [NCIT:C3778] xref: ICDO:8441/3 {source="NCIT:C3778"} xref: NCIT:C3778 {source="MONDO:equivalentTo"} is_a: EFO:0003825 {source="MONDO:Redundant", source="NCIT:C3778"} ! serous adenocarcinoma is_a: EFO:0006387 {source="MONDO:Redundant", source="NCIT:C3778"} ! cystadenocarcinoma intersection_of: EFO:0003825 {source="NCIT:C3778"} ! serous adenocarcinoma intersection_of: EFO:0006387 {source="NCIT:C3778"} ! cystadenocarcinoma property_value: exactMatch NCIT:C3778 [Term] id: MONDO:0024622 name: thyroid gland adenocarcinoma def: "An adenocarcinoma arising from the follicular cells of the thyroid gland. According to the degree of differentiation, it is classified either as differentiated carcinoma (extensive evidence of follicular cell differentiation), or poorly differentiated carcinoma (limited evidence of follicular cell differentiation)." [NCIT:C27380] synonym: "thyroid adenocarcinoma" EXACT [NCIT:C27380] synonym: "thyroid gland adenocarcinoma" EXACT [NCIT:C27380] xref: DOID:0080524 {source="MONDO:equivalentTo"} xref: NCIT:C27380 {source="MONDO:equivalentTo"} is_a: EFO:0000228 {source="MONDO:Redundant", source="NCIT:C27380"} ! adenocarcinoma is_a: EFO:0002892 {source="MONDO:Redundant", source="NCIT:C27380"} ! thyroid carcinoma property_value: exactMatch DOID:0080524 property_value: exactMatch NCIT:C27380 [Term] id: MONDO:0024623 name: otorhinolaryngologic disease def: "Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases." [MESH:D010038] comment: Editor note: consider uberon class subset: rare_grouping synonym: "disease, ENT" RELATED [MESH:D010038] synonym: "disease, otolaryngologic" RELATED [MESH:D010038] synonym: "disease, otolaryngological" RELATED [MESH:D010038] synonym: "disease, otorhinolaryngologic" RELATED [MESH:D010038] synonym: "disease, otorhinolaryngological" RELATED [MESH:D010038] synonym: "diseases, ENT" RELATED [MESH:D010038] synonym: "diseases, otolaryngologic" RELATED [MESH:D010038] synonym: "diseases, otolaryngological" RELATED [MESH:D010038] synonym: "diseases, otorhinolaryngologic" RELATED [MESH:D010038] synonym: "diseases, otorhinolaryngological" RELATED [MESH:D010038] synonym: "ear, nose and throat disorder" EXACT [] synonym: "ear, nose or throat disorder" EXACT [] synonym: "ear/nose/throat disease" EXACT [https://orcid.org/0000-0002-0736-9199] synonym: "ENT disease" RELATED [MESH:D010038] synonym: "ENT diseases" RELATED [MESH:D010038] synonym: "otolaryngologic disease" RELATED [MESH:D010038] synonym: "otolaryngologic diseases" RELATED [MESH:D010038] synonym: "otolaryngologic disorder" EXACT [NCIT:C118420] synonym: "otolaryngological disease" RELATED [MESH:D010038] synonym: "otolaryngological diseases" RELATED [MESH:D010038] synonym: "otorhinolaryngologic disease" EXACT [MESH:D010038] synonym: "otorhinolaryngological disease" RELATED [MESH:D010038] synonym: "otorhinolaryngological diseases" RELATED [MESH:D010038] xref: ICD9:478.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D010038 {source="MONDO:equivalentTo"} xref: NCIT:C118420 {source="MONDO:equivalentTo"} xref: SCTID:232208008 {source="MONDO:equivalentTo"} xref: UMLS:C0029896 {source="MONDO:equivalentTo"} xref: UMLS:C0395797 {source="MONDO:equivalentTo"} is_a: EFO:0000408 ! disease property_value: exactMatch http://identifiers.org/mesh/D010038 property_value: exactMatch http://identifiers.org/snomedct/232208008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029896 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0395797 property_value: exactMatch NCIT:C118420 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0024625 name: disorder of lacrimal gland def: "A disease that involves the lacrimal gland." [MONDO:patterns/location] synonym: "disease of lacrimal gland" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of lacrimal gland" EXACT [] synonym: "disorder of lacrimal gland" EXACT [MONDO:design_pattern, MONDO:patterns/location_top] synonym: "lacrimal gland disease" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "lacrimal gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: SCTID:95766002 {source="MONDO:equivalentTo"} xref: UMLS:C0235228 {source="MONDO:equivalentTo"} is_a: EFO:0009455 {source="MONDO:Redundant"} ! lacrimal apparatus disease property_value: exactMatch http://identifiers.org/snomedct/95766002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0235228 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0024626 name: defective phagocytic cell engulfment synonym: "defective phagocytic cell killing" EXACT [] xref: SCTID:234585008 {source="MONDO:equivalentTo"} xref: UMLS:C0398742 {source="MONDO:equivalentTo"} is_a: MONDO:0024627 {source="MONDO:Redundant"} ! phagocytic cell dysfunction property_value: exactMatch http://identifiers.org/snomedct/234585008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398742 [Term] id: MONDO:0024627 name: phagocytic cell dysfunction synonym: "defective phagocytosis" EXACT [] synonym: "phagocytic cell dysfunction" EXACT [] xref: SCTID:302874002 {source="MONDO:equivalentTo"} xref: UMLS:C0398732 {source="MONDO:equivalentTo"} is_a: EFO:0000540 {source="https://orcid.org/0000-0001-5208-3432"} ! immune system disease property_value: exactMatch http://identifiers.org/snomedct/302874002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398732 [Term] id: MONDO:0024633 name: hypertensive nephropathy def: "Kidney damage that results from chronically elevated blood pressure; complications include glomerular damage resulting in proteinuria and hematuria." [NCIT:C4757] synonym: "HNP1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608026] synonym: "hypertensive nephropathy" EXACT [MONDO:Lexical, NCIT:C4757, OMIM:608026] synonym: "hypertensive renal disease" EXACT [] xref: ICD9:403.90 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:C563161 {source="MONDO:equivalentTo"} xref: NCIT:C4757 {source="MONDO:equivalentTo"} xref: OMIM:608026 {source="MONDO:equivalentTo"} xref: SCTID:38481006 {source="MONDO:equivalentTo"} xref: UMLS:C0848548 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608026"} is_a: MONDO:0100191 ! inherited kidney disorder intersection_of: EFO:0003086 ! kidney disease intersection_of: disease_arises_from_feature EFO:0000537 ! hypertension relationship: disease_arises_from_feature EFO:0000537 ! hypertension property_value: exactMatch http://identifiers.org/mesh/C563161 property_value: exactMatch http://identifiers.org/snomedct/38481006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0848548 property_value: exactMatch https://omim.org/entry/608026 property_value: exactMatch NCIT:C4757 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3600 xsd:anyURI [Term] id: MONDO:0024634 name: large intestine disorder def: "A disease that involves the large intestine." [MONDO:patterns/location] synonym: "disease of large intestine" EXACT [MONDO:design_pattern, MONDO:patterns/location_top] synonym: "disease or disorder of large intestine" EXACT [] synonym: "disorder of large intestine" EXACT [MONDO:patterns/location_top] synonym: "large intestine disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: SCTID:119523007 {source="MONDO:equivalentTo"} xref: UMLS:C0341321 {source="MONDO:equivalentTo"} is_a: EFO:0009431 {source="MONDO:Redundant"} ! intestinal disease property_value: exactMatch http://identifiers.org/snomedct/119523007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341321 [Term] id: MONDO:0024635 name: small intestine disorder def: "A disease that involves the small intestine." [MONDO:patterns/location] synonym: "disease of small intestine" EXACT [MONDO:design_pattern, MONDO:patterns/location_top] synonym: "disease or disorder of small intestine" EXACT [] synonym: "disorder of small intestine" EXACT [MONDO:patterns/location_top] synonym: "small intestine disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: SCTID:119522002 {source="MONDO:equivalentTo"} xref: UMLS:C0341268 {source="MONDO:equivalentTo"} is_a: EFO:0009431 {source="MONDO:Redundant"} ! intestinal disease property_value: exactMatch http://identifiers.org/snomedct/119522002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341268 [Term] id: MONDO:0024636 name: inflammation of heart layer def: "An inflammatory disease involving a pathogenic inflammatory response in the heart layer." [MONDO:patterns/inflammatory_disease_by_site] synonym: "carditis" EXACT [] synonym: "heart layer inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: ICD9:429.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:399617002 {source="MONDO:equivalentTo"} is_a: EFO:0003777 {source="MONDO:Redundant"} ! heart disease is_a: EFO:0009903 ! inflammatory disease property_value: exactMatch http://identifiers.org/snomedct/399617002 [Term] id: MONDO:0024637 name: malignant soft tissue neoplasm def: "A malignant neoplasm arising exclusively from the soft tissues." [NCIT:C4867] synonym: "malignant neoplasm of soft tissue" EXACT [NCIT:C4867] synonym: "malignant neoplasm of the soft tissue" EXACT [NCIT:C4867] synonym: "malignant soft tissue neoplasm" EXACT [NCIT:C4867] synonym: "malignant soft tissue tumor" EXACT [NCIT:C4867] synonym: "malignant soft tissue tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of soft tissue" EXACT [NCIT:C4867] synonym: "malignant tumor of the soft tissue" EXACT [NCIT:C4867] synonym: "malignant tumour of soft tissue" EXACT OMO:0003005 [] synonym: "malignant tumour of the soft tissue" EXACT OMO:0003005 [] xref: NCIT:C4867 {source="MONDO:equivalentTo"} xref: SCTID:269469005 {source="MONDO:equivalentTo"} is_a: EFO:1000541 {source="NCIT:C4867"} ! Soft Tissue Neoplasm is_a: MONDO:0004992 ! cancer property_value: exactMatch http://identifiers.org/snomedct/269469005 property_value: exactMatch NCIT:C4867 [Term] id: MONDO:0024643 name: myocardial disorder def: "A disorder that affects the muscle tissue of the heart. Representative examples include myocardial infarction, myocarditis, and cardiomyopathy." [NCIT:C35544] synonym: "disease of myocardium" EXACT [MONDO:design_pattern, MONDO:patterns/location_top] synonym: "disease or disorder of myocardium" EXACT [] synonym: "disorder of heart muscle" RELATED [] synonym: "disorder of myocardium" EXACT [MONDO:patterns/location_top] synonym: "myocardial disease" EXACT [] synonym: "myocardial disorder" EXACT [NCIT:C35544] synonym: "myocardium disease" EXACT [MONDO:design_pattern] synonym: "myocardium disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: NCIT:C35544 {source="MONDO:equivalentTo"} xref: SCTID:57809008 {source="MONDO:equivalentTo"} is_a: EFO:0003777 {source="MONDO:Redundant", source="NCIT:C35544/inferred"} ! heart disease property_value: exactMatch http://identifiers.org/snomedct/57809008 property_value: exactMatch NCIT:C35544 [Term] id: MONDO:0024645 name: retroperitoneal neoplasm def: "A benign or malignant neoplasm that affects the retroperitoneum." [NCIT:C3357] synonym: "neoplasm of retroperitoneal space" EXACT [MONDO:patterns/neoplasm] synonym: "retroperitoneal neoplasm" EXACT [NCIT:C3357] synonym: "retroperitoneal space neoplasm" EXACT [] synonym: "retroperitoneal space tumor" EXACT [MONDO:patterns/neoplasm] synonym: "retroperitoneal space tumour" EXACT OMO:0003005 [] synonym: "tumor of retroperitoneal space" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of retroperitoneal space" EXACT OMO:0003005 [] xref: NCIT:C3357 {source="MONDO:equivalentTo"} is_a: EFO:0000616 {source="https://orcid.org/0000-0001-5208-3432"} ! neoplasm property_value: exactMatch NCIT:C3357 [Term] id: MONDO:0024647 name: urolithiasis def: "Stone(s) within the urinary tract." [NCIT:C114688] synonym: "calculus" EXACT [] synonym: "kidney stone" BROAD [] synonym: "urinary stones" EXACT [NCIT:C114688] synonym: "urolithiasis" EXACT [] xref: DOID:0080653 {source="MONDO:equivalentTo"} xref: ICD10CM:N20-N23 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:N21 {source="MONDO:equivalentTo"} xref: MESH:D052878 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: NCIT:C114688 {source="MONDO:equivalentTo"} xref: SCTID:95566004 {source="MONDO:equivalentTo"} xref: UMLS:C0451641 {source="MONDO:equivalentTo"} is_a: EFO:0009690 {source="NCIT:C114688/inferred"} ! urinary system disease property_value: exactMatch DOID:0080653 property_value: exactMatch http://identifiers.org/mesh/D052878 property_value: exactMatch http://identifiers.org/snomedct/95566004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0451641 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/N20-N23 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/N21 property_value: exactMatch NCIT:C114688 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0024649 name: optic tract astrocytoma def: "An astrocytoma that affects the optic tract. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group." [NCIT:C7533] synonym: "astrocytoma (excluding glioblastoma) of optic tract" EXACT [MONDO:design_pattern] synonym: "optic tract astrocytoma" EXACT [NCIT:C7533] synonym: "optic tract astrocytoma (excluding glioblastoma)" EXACT [MONDO:patterns/location] synonym: "visual pathway astrocytoma" EXACT [NCIT:C7533] xref: NCIT:C7533 {source="MONDO:equivalentTo"} xref: UMLS:C1336971 {source="MONDO:equivalentTo", source="NCIT:C7533"} is_a: MONDO:0000649 ! sensory system cancer is_a: MONDO:0003169 ! diencephalic astrocytomas is_a: MONDO:0016167 {source="MONDO:Redundant", source="NCIT:C7533"} ! optic pathway glioma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336971 property_value: exactMatch NCIT:C7533 [Term] id: MONDO:0024653 name: skull neoplasm def: "A benign or malignant neoplasm that affects the bones and structures of the skull." [NCIT:C3375] synonym: "neoplasm of skull" EXACT [MONDO:patterns/neoplasm, NCIT:C3375] synonym: "neoplasm of the skull" EXACT [NCIT:C3375] synonym: "skull neoplasm" EXACT [NCIT:C3375] synonym: "skull tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3375] synonym: "skull tumour" EXACT OMO:0003005 [] synonym: "tumor of skull" EXACT [MONDO:patterns/neoplasm, NCIT:C3375] synonym: "tumor of the skull" EXACT [NCIT:C3375] synonym: "tumour of skull" EXACT OMO:0003005 [] synonym: "tumour of the skull" EXACT OMO:0003005 [] xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D012888 {source="MONDO:equivalentTo"} xref: NCIT:C3375 {source="MONDO:equivalentTo"} xref: SCTID:126538005 {source="MONDO:equivalentTo"} xref: UMLS:C0037305 {source="MONDO:equivalentTo", source="NCIT:C3375"} is_a: EFO:0003820 ! bone neoplasm is_a: EFO:0005950 {source="MONDO:Redundant", source="NCIT:C3375"} ! head and neck neoplasia is_a: MONDO:0024654 ! skull disorder property_value: exactMatch http://identifiers.org/mesh/D012888 property_value: exactMatch http://identifiers.org/snomedct/126538005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037305 property_value: exactMatch NCIT:C3375 [Term] id: MONDO:0024654 name: skull disorder def: "A non-neoplastic or neoplastic disorder that affects structures of the skull." [NCIT:C27655] synonym: "disease of skull" EXACT [MONDO:design_pattern, MONDO:patterns/location_top] synonym: "disease or disorder of skull" EXACT [] synonym: "disorder of skull" EXACT [MONDO:design_pattern, MONDO:patterns/location_top] synonym: "skull disease" EXACT [NCIT:C27655] synonym: "skull disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "skull disorder" EXACT [NCIT:C27655] xref: NCIT:C27655 {source="MONDO:equivalentTo"} xref: SCTID:118945008 {source="MONDO:equivalentTo"} xref: UMLS:C1290854 {source="MONDO:equivalentTo", source="NCIT:C27655"} is_a: EFO:0004260 ! bone disease property_value: exactMatch http://identifiers.org/snomedct/118945008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1290854 property_value: exactMatch NCIT:C27655 [Term] id: MONDO:0024656 name: colorectal lymphoma def: "An extranodal lymphoma that arises from the colon or rectum. The majority are B-cell non-Hodgkin lymphomas." [NCIT:C96498] synonym: "colorectal lymphoma" EXACT [NCIT:C96498] synonym: "large intestinal lymphoma" EXACT [NCIT:C96498] synonym: "large intestine lymphoma" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "lymphoma of large intestine" EXACT [MONDO:design_pattern] synonym: "primary colorectal lymphoma" EXACT [NCIT:C96498] xref: NCIT:C96498 {source="MONDO:equivalentTo"} xref: UMLS:C3272822 {source="MONDO:equivalentTo", source="NCIT:C96498"} is_a: MONDO:0004699 {source="MONDO:Redundant", source="NCIT:C96498"} ! gastrointestinal lymphoma is_a: MONDO:0005575 {source="NCIT:C96498"} ! colorectal cancer is_a: MONDO:0023113 ! familial colorectal cancer property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3272822 property_value: exactMatch NCIT:C96498 [Term] id: MONDO:0024660 name: tubular adenoma def: "A usually polypoid neoplasm arising from the glandular epithelium. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features. Representative examples include the tubular adenomas of the colon and rectum." [NCIT:C4133] synonym: "adenoma, tubular cell, benign" EXACT [NCIT:C4133] synonym: "tubular adenoma" EXACT [NCIT:C4133] xref: ICDO:8211/0 {source="NCIT:C4133"} xref: NCIT:C4133 {source="MONDO:equivalentTo"} xref: SCTID:444408007 {source="MONDO:equivalentTo"} xref: UMLS:C0334292 {source="NCIT:C4133", source="MONDO:equivalentTo"} is_a: EFO:0000232 {source="NCIT:C4133"} ! adenoma property_value: exactMatch http://identifiers.org/snomedct/444408007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334292 property_value: exactMatch NCIT:C4133 [Term] id: MONDO:0024661 name: tubulovillous adenoma def: "An epithelial neoplasm morphologically characterized by the presence of a villous and a tubular architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features." [NCIT:C4143] synonym: "tubulovillous adenoma" EXACT [NCIT:C4143] xref: ICDO:8263/0 {source="NCIT:C4143"} xref: NCIT:C4143 {source="MONDO:equivalentTo"} xref: UMLS:C0334307 {source="NCIT:C4143", source="MONDO:equivalentTo"} is_a: EFO:0000232 {source="NCIT:C4143"} ! adenoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334307 property_value: exactMatch NCIT:C4143 [Term] id: MONDO:0024662 name: colorectal tubulovillous adenoma def: "A neoplasm that arises from the glandular epithelium of the colonic and rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." [NCIT:C5675] synonym: "colorectal tubulovillous adenoma" EXACT [NCIT:C5675] synonym: "large bowel tubulovillous adenoma" EXACT [NCIT:C5675] synonym: "tubulovillous adenoma of large bowel" EXACT [NCIT:C5675] synonym: "tubulovillous adenoma of the large bowel" EXACT [NCIT:C5675] xref: NCIT:C5675 {source="MONDO:equivalentTo"} xref: UMLS:C1333118 {source="MONDO:equivalentTo", source="NCIT:C5675"} is_a: EFO:0005406 {source="MONDO:Redundant", source="NCIT:C5675"} ! colorectal adenoma is_a: MONDO:0024661 {source="MONDO:Redundant", source="NCIT:C5675"} ! tubulovillous adenoma intersection_of: EFO:0005406 {source="NCIT:C5675"} ! colorectal adenoma intersection_of: MONDO:0024661 {source="NCIT:C5675"} ! tubulovillous adenoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333118 property_value: exactMatch NCIT:C5675 [Term] id: MONDO:0024664 name: hypertension, pregnancy-induced def: "A hypertensive disorder that develops during pregnancy." [NCIT:C9243] synonym: "gestational hypertension" RELATED [MESH:D046110] synonym: "hypertension associated disorders of pregnancy" EXACT [NCIT:C9243] synonym: "hypertension complicating pregnancy" RELATED [] synonym: "hypertension induced by pregnancy" RELATED [] synonym: "hypertension, gestational" RELATED [MESH:D046110] synonym: "hypertension, pregnancy induced" RELATED [MESH:D046110] synonym: "hypertension, pregnancy transient" RELATED [MESH:D046110] synonym: "hypertension-associated pregnancy disorder" EXACT [NCIT:C9243] synonym: "hypertensions, pregnancy induced" RELATED [MESH:D046110] synonym: "induced hypertension, pregnancy" RELATED [MESH:D046110] synonym: "induced Hypertensions, pregnancy" RELATED [MESH:D046110] synonym: "pregnancy induced hypertension" RELATED [MESH:D046110] synonym: "pregnancy transient hypertension" RELATED [MESH:D046110] synonym: "pregnancy-induced hypertension" EXACT [MESH:D046110] synonym: "transient hypertension, pregnancy" RELATED [MESH:D046110] xref: MESH:D046110 {source="MONDO:equivalentTo"} xref: NCIT:C9243 {source="MONDO:equivalentTo"} xref: SCTID:48194001 {source="MONDO:equivalentTo"} is_a: EFO:0000537 {source="MESH:D046110", source="MONDO:Redundant"} ! hypertension is_a: EFO:0009682 {source="MESH:D046110", source="MONDO:Redundant", source="NCIT:C9243"} ! pregnancy disorder intersection_of: EFO:0000537 ! hypertension intersection_of: EFO:0009682 ! pregnancy disorder property_value: exactMatch http://identifiers.org/mesh/D046110 property_value: exactMatch http://identifiers.org/snomedct/48194001 property_value: exactMatch NCIT:C9243 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0024665 name: indeterminate sex and/or pseudohermaphroditism synonym: "gynandrism" RELATED [] xref: ICD10CM:Q56 {source="MONDO:equivalentTo"} xref: ICD9:752.7 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:268229003 {source="MONDO:equivalentTo"} is_a: MONDO:0002145 {source="MONDO:cjm"} ! disorder of sexual differentiation property_value: exactMatch http://identifiers.org/snomedct/268229003 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/Q56 [Term] id: MONDO:0024666 name: benign epithelial skin neoplasm def: "A form of epithelial skin neoplasm without malignant characteristics." [MONDO:patterns/benign] synonym: "benign epithelial skin neoplasm" EXACT [NCIT:C7341] synonym: "benign epithelial skin tumor" EXACT [NCIT:C7341] synonym: "benign epithelial skin tumour" EXACT OMO:0003005 [] synonym: "benign skin epithelium neoplasm" EXACT [NCIT:C7341] synonym: "benign skin epithelium tumor" EXACT [NCIT:C7341] synonym: "benign skin epithelium tumour" EXACT OMO:0003005 [] synonym: "epithelial skin neoplasm, benign" EXACT [MONDO:patterns/benign] xref: NCIT:C7341 {source="MONDO:equivalentTo"} xref: UMLS:C0345981 {source="NCIT:C7341", source="MONDO:equivalentTo"} is_a: MONDO:0021440 {source="MONDO:Redundant", source="NCIT:C7341"} ! benign neoplasm of skin is_a: MONDO:0021634 {source="MONDO:Redundant", source="NCIT:C7341"} ! epithelial skin neoplasm is_a: MONDO:0036976 ! benign epithelial neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345981 property_value: exactMatch NCIT:C7341 [Term] id: MONDO:0024677 name: pancreatic insulinoma def: "An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin." [NCIT:C95598] comment: Editor note: NCIT definition core part identical to pancreatic insulin-producing neuroendocrine tumor. In mesh this is an adenoma. Obs reason: duplicate. This will be merged with MONDO:0005048 pancreatic insulin-producing neuroendocrine tumor subset: gard_rare subset: ordo_disease {source="Orphanet:97279"} synonym: "adenoma, beta cell" RELATED [MESH:D007340] synonym: "adenoma, beta-cell" RELATED [MESH:D007340] synonym: "adenomas, beta-cell" RELATED [MESH:D007340] synonym: "beta cell tumor" RELATED [MESH:D007340] synonym: "beta cell tumour" RELATED OMO:0003005 [] synonym: "beta-cell adenoma" RELATED [MESH:D007340] synonym: "beta-cell adenomas" RELATED [MESH:D007340] synonym: "beta-cell tumor" RELATED [MESH:D007340] synonym: "beta-cell tumors" RELATED [MESH:D007340] synonym: "beta-cell tumour" RELATED OMO:0003005 [] synonym: "beta-cell tumours" RELATED OMO:0003005 [] synonym: "insulin-producing tumour of islet cells" RELATED OMO:0003005 [] synonym: "insulinoma" EXACT [NCIT:C95598] synonym: "insulinoma tumor suppressor GENE locus" RELATED [MESH:D007340] synonym: "insulinoma tumour suppressor GENE locus" RELATED OMO:0003005 [] synonym: "Insulinomas" RELATED [MESH:D007340] synonym: "insuloma" RELATED [MESH:D007340] synonym: "Insulomas" RELATED [MESH:D007340] synonym: "islet cell adenoma" RELATED [DOID:3892] synonym: "pancreatic insulinoma" EXACT [NCIT:C95598] synonym: "tumor, beta-cell" RELATED [MESH:D007340] synonym: "tumors, beta-cell" RELATED [MESH:D007340] xref: DOID:3892 {source="MONDO:equivalentTo", source="EFO:0000549"} xref: EFO:0000549 {source="MONDO:equivalentTo"} xref: HP:0012197 {source="MONDO:otherHierarchy"} xref: MedDRA:10022498 {source="Orphanet:97279", source="Orphanet:97279/e"} xref: MESH:D007340 {source="DOID:3892", source="Orphanet:97279", source="MONDO:equivalentTo", source="Orphanet:97279/e", source="EFO:0000549"} xref: NCIT:C95598 {source="MONDO:equivalentTo"} xref: SCTID:302822000 {source="DOID:3892", source="MONDO:equivalentTo", source="EFO:0000549"} is_a: EFO:0000549 {source="NCIT:C95598"} ! insulinoma is_a: MONDO:0023206 {source="NCIT:C95598"} ! functional pancreatic neuroendocrine tumor property_value: closeMatch http://identifiers.org/meddra/10022498 property_value: exactMatch DOID:3892 property_value: exactMatch http://identifiers.org/mesh/D007340 property_value: exactMatch http://identifiers.org/snomedct/302822000 property_value: exactMatch NCIT:C95598 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6281 xsd:anyURI [Term] id: MONDO:0024757 name: cardiovascular neoplasm def: "A benign or malignant neoplasm that affects the heart and/or vessels. Representative examples of benign neoplasms include atrial myxoma, hemangioma, and lymphangioma. Representative examples of malignant neoplasms include pericardial malignant mesothelioma and angiosarcoma." [NCIT:C4784] synonym: "cardiovascular neoplasm" EXACT [NCIT:C4784] synonym: "cardiovascular system neoplasm" EXACT [] synonym: "cardiovascular system tumor" EXACT [MONDO:patterns/neoplasm] synonym: "cardiovascular system tumour" EXACT OMO:0003005 [] synonym: "cardiovascular tumor" EXACT [NCIT:C4784] synonym: "cardiovascular tumour" EXACT OMO:0003005 [] synonym: "neoplasm of cardiovascular system" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of cardiovascular system" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of cardiovascular system" EXACT OMO:0003005 [] xref: NCIT:C4784 {source="MONDO:equivalentTo"} xref: SCTID:721573003 {source="MONDO:equivalentTo"} is_a: EFO:0000319 {source="MONDO:Redundant", source="NCIT:C4784"} ! cardiovascular disease is_a: EFO:0000616 ! neoplasm property_value: exactMatch http://identifiers.org/snomedct/721573003 property_value: exactMatch NCIT:C4784 [Term] id: MONDO:0024813 name: pulmonary sulcus neoplasm def: "A neoplasm originating from the apical lung. Most superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor." [NCIT:C27710] synonym: "pulmonary sulcus neoplasm" EXACT [NCIT:C27710] synonym: "pulmonary sulcus tumor" EXACT [NCIT:C27710] synonym: "pulmonary sulcus tumour" EXACT OMO:0003005 [] xref: NCIT:C27710 {source="MONDO:equivalentTo"} is_a: MONDO:0021117 {source="NCIT:C27710"} ! lung neoplasm property_value: exactMatch NCIT:C27710 [Term] id: MONDO:0024876 name: tendon sheath disorder def: "A disease that involves the tendon sheath." [MONDO:patterns/location] synonym: "disease of tendon sheath" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of tendon sheath" EXACT [] synonym: "disorder of tendon sheath" EXACT [MONDO:patterns/location_top] synonym: "tendon sheath disease" EXACT [] synonym: "tendon sheath disease or disorder" EXACT [MONDO:patterns/location] synonym: "tendon sheath disorder" EXACT [] xref: ICD9:727.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:312381009 {source="MONDO:equivalentTo"} xref: UMLS:C0729734 {source="MONDO:equivalentTo"} is_a: EFO:1001434 ! Tendinopathy property_value: exactMatch http://identifiers.org/snomedct/312381009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0729734 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0024878 name: secondary carcinoma def: "A carcinoma that arises from a pre-existing lower grade epithelial lesion, or as a result of a primary carcinoma that has spread to secondary sites, or due to a complication of a cancer treatment." [NCIT:C36310] comment: Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future. synonym: "secondary carcinoma" EXACT [NCIT:C36310] xref: NCIT:C36310 {source="MONDO:equivalentTo"} xref: UMLS:C0085668 {source="NCIT:C36310", source="MONDO:equivalentTo"} is_a: EFO:0000313 ! carcinoma is_a: EFO:0009812 {source="NCIT:C36310"} ! secondary malignant neoplasm intersection_of: MONDO:0024882 ! secondary neoplasm intersection_of: disease_arises_from_feature EFO:0000313 ! carcinoma relationship: disease_arises_from_feature EFO:0000313 ! carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085668 property_value: exactMatch NCIT:C36310 property_value: excluded_subClassOf MONDO:0004993 {source="NCIT:C36310"} [Term] id: MONDO:0024879 name: metastatic carcinoma def: "A carcinoma which has spread from the original site of growth to another anatomic site." [NCIT:C3482] comment: Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future. synonym: "metastatic carcinoma" EXACT [NCIT:C3482] xref: ICDO:8010/6 {source="NCIT:C3482"} xref: NCIT:C3482 {source="MONDO:equivalentTo"} xref: UMLS:C1384494 {source="NCIT:C3482", source="MONDO:equivalentTo"} is_a: MONDO:0024878 {source="MONDO:Redundant", source="NCIT:C3482"} ! secondary carcinoma is_a: MONDO:0024880 {source="MONDO:Redundant", source="NCIT:C3482"} ! metastatic malignant neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1384494 property_value: exactMatch NCIT:C3482 [Term] id: MONDO:0024880 name: metastatic malignant neoplasm def: "A malignant tumor that has spread from its original (primary) site of growth to another site close to or distant from the primary site." [NCIT:C36263] comment: Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future. synonym: "malignant metastatic neoplasm" EXACT [] synonym: "metastatic cancer" EXACT [NCIT:C36263] synonym: "metastatic malignant neoplasm" EXACT [NCIT:C36263] synonym: "metastatic neoplasm, malignant" EXACT [MONDO:patterns/malignant] xref: NCIT:C36263 {source="MONDO:equivalentTo"} is_a: EFO:0009709 {source="MONDO:Redundant", source="NCIT:C36263"} ! metastatic neoplasm is_a: EFO:0009812 {source="NCIT:C36263"} ! secondary malignant neoplasm property_value: exactMatch NCIT:C36263 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0024882 name: secondary neoplasm def: "A neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment." [NCIT:C36255] comment: Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future. synonym: "secondary neoplasm" EXACT [NCIT:C36255] synonym: "secondary tumor" EXACT [NCIT:C36255] synonym: "secondary tumour" EXACT OMO:0003005 [] xref: NCIT:C36255 {source="MONDO:equivalentTo"} is_a: MONDO:0023370 ! neoplastic disease or syndrome intersection_of: MONDO:0023370 ! neoplastic disease or syndrome intersection_of: disease_arises_from_feature EFO:0000616 ! neoplasm relationship: disease_arises_from_feature EFO:0000616 ! neoplasm property_value: exactMatch NCIT:C36255 [Term] id: MONDO:0024885 name: malignant ovarian serous tumor def: "An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia. It includes serous adenocarcinoma and serous adenocarcinofibroma." [NCIT:C40025] synonym: "malignant ovarian serous tumor" EXACT [NCIT:C40025] synonym: "ovarian serous tumor, malignant" EXACT [MONDO:patterns/malignant] xref: NCIT:C40025 {source="MONDO:equivalentTo"} is_a: MONDO:0018364 {source="MONDO:Redundant", source="NCIT:C40025"} ! malignant epithelial tumor of ovary is_a: MONDO:0037255 {source="MONDO:Redundant", source="NCIT:C40025"} ! ovarian serous tumor property_value: exactMatch NCIT:C40025 [Term] id: MONDO:0024886 name: serous adenofibroma def: "A benign adenofibroma characterized by the presence of serous secretory cells and minute cystic spaces filled with watery fluid. A representative example is the ovarian serous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline serous adenofibromas and have a low grade malignant potential." [NCIT:C67090] synonym: "serous adenofibroma" EXACT [NCIT:C67090] xref: ICDO:9014/0 {source="NCIT:C67090"} xref: NCIT:C67090 {source="MONDO:equivalentTo"} xref: UMLS:C0334498 {source="MONDO:equivalentTo", source="NCIT:C67090"} is_a: EFO:1000070 {source="NCIT:C67090"} ! Adenofibroma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334498 property_value: exactMatch NCIT:C67090 [Term] id: MONDO:0024890 name: pineal parenchymal cell neoplasm def: "A neoplasm arising from the pineocyte, a cell with photosensory and neuroendocrine functions. It may be composed of mature elements or primitive, immature cells. The cellular composition determines the biological behavior and clinical outcome. Three types are recognized: pineoblastoma, pineocytoma, and pineal parenchymal tumor of intermediate differentiation (Adapted from WHO.)" [NCIT:C6965] synonym: "neoplasm of pineal gland" EXACT [NCIT:C6965] synonym: "neoplasm of the pineal gland" EXACT [NCIT:C6965] synonym: "pineal gland neoplasm" EXACT [NCIT:C6965] synonym: "pineal gland tumor" EXACT [NCIT:C6965] synonym: "pineal gland tumour" EXACT OMO:0003005 [] synonym: "pineal parenchymal cell neoplasm" EXACT [NCIT:C6965] synonym: "pineal parenchymal cell tumor" EXACT [NCIT:C6965] synonym: "pineal parenchymal cell tumour" EXACT OMO:0003005 [] synonym: "pineal parenchymal neoplasm" EXACT [NCIT:C6965] synonym: "pineal parenchymal tumor" EXACT [NCIT:C6965] synonym: "pineal parenchymal tumour" EXACT OMO:0003005 [] synonym: "pineocytic neoplasm" EXACT [NCIT:C6965] synonym: "pineocytic tumor" EXACT [NCIT:C6965] synonym: "pineocytic tumour" EXACT OMO:0003005 [] synonym: "tumor of pineal gland" EXACT [NCIT:C6965] synonym: "tumor of the pineal gland" EXACT [NCIT:C6965] synonym: "tumour of pineal gland" EXACT OMO:0003005 [] synonym: "tumour of the pineal gland" EXACT OMO:0003005 [] xref: ICDO:9360/1 {source="NCIT:C6965"} xref: NCIT:C6965 {source="MONDO:equivalentTo"} xref: UMLS:C0031941 {source="MONDO:equivalentTo", source="NCIT:C6965"} is_a: MONDO:0021193 {source="NCIT:C6965"} ! neuroepithelial neoplasm is_a: MONDO:0021232 {source="NCIT:C6965"} ! pineal body neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031941 property_value: exactMatch NCIT:C6965 [Term] id: MONDO:0024892 name: soft tissue amyloid neoplasm def: "A soft tissue neoplasm composed of acellular amyloid material." [NCIT:C8323] synonym: "amyloid neoplasm" EXACT [DOID:6755, NCIT:C8323] synonym: "amyloid tumor" RELATED [DOID:6755] synonym: "amyloid tumor (morphologic abnormality)" EXACT [DOID:6755] synonym: "amyloid tumour" RELATED OMO:0003005 [] synonym: "amyloid tumour (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "soft tissue amyloid neoplasm" EXACT [NCIT:C8323] synonym: "soft tissue amyloid tumor" EXACT [NCIT:C8323] synonym: "soft tissue amyloid tumour" EXACT OMO:0003005 [] xref: DOID:6755 {source="EFO:0003114", source="MONDO:equivalentTo"} xref: ICD9:714.32 {source="MONDO:relatedTo", source="EFO:0003114"} xref: NCIT:C8323 {source="MONDO:equivalentTo"} xref: UMLS:C0333572 {source="DOID:6755", source="MONDO:equivalentTo"} xref: UMLS:C1706802 {source="NCIT:C8323", source="MONDO:equivalentTo"} is_a: EFO:1000541 {source="MONDO:Redundant", source="NCIT:C8323"} ! Soft Tissue Neoplasm is_a: EFO:1001875 {source="MONDO:Redundant", source="NCIT:C8323"} ! amyloidosis intersection_of: EFO:1000541 {source="NCIT:C8323"} ! Soft Tissue Neoplasm intersection_of: EFO:1001875 {source="NCIT:C8323"} ! amyloidosis property_value: exactMatch DOID:6755 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0333572 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1706802 property_value: exactMatch NCIT:C8323 [Term] id: MONDO:0024905 name: bird disease def: "Diseases of birds not considered poultry, therefore usually found in zoos, parks, and the wild. The concept is differentiated from poultry diseases which is for birds raised as a source of meat or eggs for human consumption, and usually found in barnyards, hatcheries, etc." [MESH:D001715] synonym: "Avian disease" RELATED [MESH:D001715] synonym: "Avian diseases" RELATED [MESH:D001715] synonym: "bird disease" EXACT [MESH:D001715] synonym: "disease, Avian" RELATED [MESH:D001715] synonym: "disease, Bird" RELATED [MESH:D001715] synonym: "diseases, Avian" RELATED [MESH:D001715] synonym: "diseases, Bird" RELATED [MESH:D001715] xref: MESH:D001715 {source="MONDO:equivalentTo"} xref: UMLS:C0005591 {source="MONDO:equivalentTo"} is_a: EFO:0005932 {source="MESH:D001715"} ! animal disease property_value: exactMatch http://identifiers.org/mesh/D001715 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005591 [Term] id: MONDO:0024913 name: cattle disease def: "Diseases of domestic cattle of the genus Bos. It includes diseases of cows, yaks, and zebus." [MESH:D002418] synonym: "bovine disease" RELATED [MESH:D002418] synonym: "bovine diseases" RELATED [MESH:D002418] synonym: "cattle disease" EXACT [MESH:D002418] synonym: "disease, bovine" RELATED [MESH:D002418] synonym: "disease, cattle" RELATED [MESH:D002418] synonym: "diseases, bovine" RELATED [MESH:D002418] synonym: "diseases, cattle" RELATED [MESH:D002418] xref: MESH:D002418 {source="MONDO:equivalentTo"} xref: UMLS:C0007453 {source="MONDO:equivalentTo"} is_a: EFO:0005932 {source="MESH:D002418"} ! animal disease property_value: exactMatch http://identifiers.org/mesh/D002418 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007453 property_value: RO:0002175 NCBITaxon:9903 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} [Term] id: MONDO:0024934 name: fish disease def: "Diseases of freshwater, marine, hatchery or aquarium fish. This term includes diseases of both teleosts (true fish) and elasmobranchs (sharks, rays and skates)." [MESH:D005393] synonym: "disease, fish" RELATED [MESH:D005393] synonym: "diseases, fish" RELATED [MESH:D005393] synonym: "fish disease" EXACT [MESH:D005393] xref: MESH:D005393 {source="MONDO:equivalentTo"} xref: UMLS:C0016154 {source="MONDO:equivalentTo"} is_a: EFO:0005932 {source="MESH:D005393"} ! animal disease property_value: exactMatch http://identifiers.org/mesh/D005393 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016154 property_value: RO:0002175 NCBITaxon:32443 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} property_value: RO:0002175 NCBITaxon:7778 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} [Term] id: MONDO:0024950 name: horse disease def: "Diseases of domestic and wild horses of the species Equus caballus." [MESH:D006734] synonym: "disease, equine" RELATED [MESH:D006734] synonym: "disease, horse" RELATED [MESH:D006734] synonym: "diseases, equine" RELATED [MESH:D006734] synonym: "diseases, horse" RELATED [MESH:D006734] synonym: "equine disease" RELATED [MESH:D006734] synonym: "equine diseases" RELATED [MESH:D006734] synonym: "horse disease" EXACT [MESH:D006734] xref: MESH:D006734 {source="MONDO:equivalentTo"} xref: UMLS:C0019940 {source="MONDO:equivalentTo"} is_a: EFO:0005932 {source="MESH:D006734"} ! animal disease property_value: exactMatch http://identifiers.org/mesh/D006734 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019940 property_value: RO:0002175 NCBITaxon:9788 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} [Term] id: MONDO:0024969 name: parasitic disease, non-human animal def: "Infections or infestations with parasitic organisms. The infestation may be experimental or veterinary." [MESH:D010273] synonym: "animal parasitic disease" RELATED [MESH:D010273] synonym: "animal parasitic diseases" RELATED [MESH:D010273] synonym: "disease, animal parasitic" RELATED [MESH:D010273] synonym: "diseases, animal parasitic" RELATED [MESH:D010273] synonym: "parasitic disease, animal" RELATED [MESH:D010273] synonym: "parasitic infectious disease, non-human animal" EXACT [https://orcid.org/0000-0002-4142-7153] xref: MESH:D010273 {source="MONDO:equivalentTo"} xref: UMLS:C0030500 {source="MONDO:equivalentTo"} is_a: MONDO:0700049 ! infectious disease, non-human animal property_value: exactMatch http://identifiers.org/mesh/D010273 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030500 property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch MONDO:0005135 [Term] id: MONDO:0024985 name: sheep disease def: "Diseases of domestic and mountain sheep of the genus Ovis." [MESH:D012757] synonym: "disease, Ovine" RELATED [MESH:D012757] synonym: "disease, sheep" RELATED [MESH:D012757] synonym: "diseases, Ovine" RELATED [MESH:D012757] synonym: "diseases, sheep" RELATED [MESH:D012757] synonym: "Ovine disease" RELATED [MESH:D012757] synonym: "Ovine diseases" RELATED [MESH:D012757] synonym: "sheep disease" EXACT [MESH:D012757] xref: MESH:D012757 {source="MONDO:equivalentTo"} xref: UMLS:C0036946 {source="MONDO:equivalentTo"} is_a: EFO:0005932 {source="MESH:D012757"} ! animal disease property_value: exactMatch http://identifiers.org/mesh/D012757 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036946 property_value: RO:0002175 NCBITaxon:9935 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} [Term] id: MONDO:0024988 name: sex cord-stromal benign neoplasm def: "A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts." [DOID:0080368] xref: DOID:0080368 {source="MONDO:equivalentTo"} is_a: EFO:1000052 ! sex cord-stromal tumor is_a: MONDO:0000383 {source="DOID:0080368"} ! benign reproductive system neoplasm property_value: exactMatch DOID:0080368 [Term] id: MONDO:0024990 name: swine disease def: "Diseases of domestic swine and of the wild boar of the genus Sus." [MESH:D013553] synonym: "disease, swine" RELATED [MESH:D013553] synonym: "diseases, swine" RELATED [MESH:D013553] synonym: "swine disease" EXACT [MESH:D013553] xref: MESH:D013553 {source="MONDO:equivalentTo"} xref: UMLS:C0039006 {source="MONDO:equivalentTo"} is_a: EFO:0005932 {source="MESH:D013553"} ! animal disease property_value: exactMatch http://identifiers.org/mesh/D013553 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039006 property_value: RO:0002175 NCBITaxon:9822 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} [Term] id: MONDO:0025003 name: goat disease def: "Diseases of the domestic or wild goat of the genus Capra." [MESH:D015511] comment: Consider obsoleting this, as it groups other non-goat diseases synonym: "caprine disease" RELATED [MESH:D015511] synonym: "caprine diseases" RELATED [MESH:D015511] synonym: "disease, caprine" RELATED [MESH:D015511] synonym: "disease, goat" RELATED [MESH:D015511] synonym: "diseases, caprine" RELATED [MESH:D015511] synonym: "diseases, goat" RELATED [MESH:D015511] synonym: "goat disease" EXACT [MESH:D015511] xref: MESH:D015511 {source="MONDO:equivalentTo"} xref: UMLS:C0018018 {source="MONDO:equivalentTo"} is_a: EFO:0005932 {source="MESH:D015511"} ! animal disease property_value: exactMatch http://identifiers.org/mesh/D015511 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018018 property_value: RO:0002175 NCBITaxon:9922 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} [Term] id: MONDO:0025082 name: helminthiasis, animal def: "Infestation of animals with parasitic worms of the helminth class. The infestation may be experimental or veterinary." [MESH:D006374] synonym: "animal Helminthiases" RELATED [MESH:D006374] synonym: "animal helminthiasis" RELATED [MESH:D006374] synonym: "Helminthiases, animal" RELATED [MESH:D006374] xref: MESH:D006374 {source="MONDO:equivalentTo"} xref: UMLS:C0018891 {source="MONDO:equivalentTo"} is_a: MONDO:0024969 {source="MESH:D006374"} ! parasitic disease, non-human animal property_value: exactMatch http://identifiers.org/mesh/D006374 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018891 property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch MONDO:0004664 [Term] id: MONDO:0025193 name: oculopharyngodistal myopathy def: "Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG. Inheritance may be autosomal dominant or autosomal recessive. The specific cause is still unknown." [https://rarediseases.info.nih.gov/diseases/12592/oculopharyngodistal-myopathy] subset: gard_rare {source="GARD:0012592"} subset: ordo_disease {source="Orphanet:98897"} subset: ordo_inheritance_inconsistent synonym: "faciooculolaryngopharyngeal myopathy with distal and respiratory involvement" RELATED [OMIM:164310] synonym: "oculopharyngeal distal myopathy" EXACT [Orphanet:98897] synonym: "oculopharyngodistal myopathy" EXACT [MONDO:Lexical, OMIM:164310] synonym: "OPDM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:164310, Orphanet:98897] xref: DOID:0081296 {source="MONDO:equivalentTo"} xref: MESH:C563508 {source="MONDO:equivalentTo"} xref: OMIMPS:164310 {source="MONDO:equivalentTo"} xref: Orphanet:98897 {source="MONDO:equivalentTo", source="OMIM:164310"} xref: SCTID:763829004 {source="MONDO:equivalentTo"} xref: UMLS:C1834014 {source="Orphanet:98897", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:164310"} is_a: MONDO:0016106 {source="Orphanet:98897"} ! progressive muscular dystrophy is_a: MONDO:0018949 {source="MONDO:cjm", source="Orphanet:98897", source="Orphanet:98897/inferred"} ! distal myopathy is_a: MONDO:0020158 {source="MONDO:0020169-obsoleted"} ! eyelids malposition disorder property_value: exactMatch DOID:0081296 property_value: exactMatch http://identifiers.org/mesh/C563508 property_value: exactMatch http://identifiers.org/snomedct/763829004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834014 property_value: exactMatch https://omim.org/phenotypicSeries/PS164310 property_value: exactMatch Orphanet:98897 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12592/oculopharyngodistal-myopathy xsd:anyURI {source="GARD:0012592"} [Term] id: MONDO:0025294 name: tick-borne infectious disease def: "Bacterial, viral, or parasitic diseases transmitted to humans and animals by the bite of infected ticks. The families Ixodidae and Argasidae contain many bloodsucking species that are important pests of man and domestic birds and mammals and probably exceed all other arthropods in the number and variety of disease agents they transmit. Many of the tick-borne diseases are zoonotic." [MESH:D017282] synonym: "disease, Tick-borne" RELATED [MESH:D017282] synonym: "diseases, Tick-borne" RELATED [MESH:D017282] synonym: "infection, Tick-borne" RELATED [MESH:D017282] synonym: "infections, Tick borne" RELATED [MESH:D017282] synonym: "infections, Tick-borne" RELATED [MESH:D017282] synonym: "Tick borne diseases" RELATED [MESH:D017282] synonym: "Tick borne infections" RELATED [MESH:D017282] synonym: "Tick-borne disease" RELATED [MESH:D017282] synonym: "Tick-borne infection" RELATED [MESH:D017282] synonym: "Tick-borne infections" RELATED [MESH:D017282] xref: MESH:D017282 {source="MONDO:equivalentTo"} is_a: MONDO:0100120 ! vector-borne disease property_value: exactMatch http://identifiers.org/mesh/D017282 [Term] id: MONDO:0025303 name: anaplasmosis def: "A disease or disorder caused by infection with Anaplasma." [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "anaplasma caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "anaplasma disease or disorder" EXACT [] synonym: "anaplasma infectious disease" EXACT [] synonym: "anaplasmoses" EXACT [MESH:D000712] synonym: "human anaplasmosis" EXACT [MONDO:0044747] xref: ICD9:082.49 xref: MESH:D000712 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: NCIT:C128425 {source="MONDO:equivalentTo"} xref: SCTID:13906002 {source="MONDO:equivalentTo"} xref: SCTID:427481004 {source="MONDO:equivalentObsolete"} is_a: EFO:1001123 {source="MONDO:Redundant"} ! primary Anaplasmataceae infectious disease is_a: MONDO:0025294 {source="MONDO:Redundant"} ! tick-borne infectious disease property_value: exactMatch http://identifiers.org/mesh/D000712 property_value: exactMatch http://identifiers.org/snomedct/13906002 property_value: exactMatch NCIT:C128425 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5537 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5897 xsd:anyURI [Term] id: MONDO:0025354 name: spermatogenic failure, X-linked, 3 synonym: "spermatogenic failure, X-linked, 3" EXACT [OMIM:301059] synonym: "spermatogenic failure, X-linked, 3, X-linked recessive" EXACT [OMIM:301059, OMIM:genemap2] synonym: "SPGFX3" EXACT ABBREVIATION [OMIM:301059] xref: DOID:0112274 {source="MONDO:equivalentTo"} xref: OMIM:301059 {source="MONDO:equivalentTo"} is_a: EFO:0000279 {source="OMIM:301059"} ! azoospermia property_value: exactMatch DOID:0112274 property_value: exactMatch https://omim.org/entry/301059 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0025370 name: obsolete urogenital neoplasm def: "OBSOLETE. Tumors or cancer of the urogenital system in either the male or the female." [MESH:D014565] comment: Reason: out of scope, grouping class. Terms to consider: 'reproductive system neoplasm' (MONDO:0006054), urinary system neoplasm (MONDO:0021066) synonym: "genito-urinary neoplasm" RELATED [MESH:D014565] synonym: "genito-urinary neoplasms" RELATED [MESH:D014565] synonym: "genitourinary neoplasm" RELATED [MESH:D014565] synonym: "genitourinary neoplasms" RELATED [MESH:D014565] synonym: "genitourinary system neoplasm" EXACT [] synonym: "genitourinary system tumor" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of genitourinary system" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm, genito-urinary" RELATED [MESH:D014565] synonym: "neoplasm, genitourinary" RELATED [MESH:D014565] synonym: "neoplasm, urogenital" RELATED [MESH:D014565] synonym: "neoplasms, genito-urinary" RELATED [MESH:D014565] synonym: "neoplasms, genitourinary" RELATED [MESH:D014565] synonym: "neoplasms, urogenital" RELATED [MESH:D014565] synonym: "tumor of genitourinary system" EXACT [MONDO:patterns/neoplasm] synonym: "urogenital neoplasm" EXACT [MESH:D014565] xref: EFO:0003863 {source="MONDO:obsoleteEquivalent"} xref: MESH:D014565 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://identifiers.org/mesh/D014565 property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingMorpho"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4113 xsd:anyURI is_obsolete: true consider: MONDO:0006054 consider: MONDO:0021066 [Term] id: MONDO:0025371 name: Parvoviridae infectious disease def: "Virus infections caused by the parvoviridae." [MESH:D010322] synonym: "disease caused by Parvoviridae" RELATED [] synonym: "disease due to Parvoviridae" EXACT [] synonym: "infection, Parvoviridae" RELATED [MESH:D010322] synonym: "infection, Parvovirus" RELATED [MESH:D010322] synonym: "infections, Parvoviridae" RELATED [MESH:D010322] synonym: "infections, Parvovirus" RELATED [MESH:D010322] synonym: "Parvoviridae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Parvoviridae disease or disorder" EXACT [] synonym: "Parvoviridae infection" RELATED [MESH:D010322] synonym: "Parvovirus infection" RELATED [MESH:D010322] synonym: "Parvovirus infections" RELATED [MESH:D010322] xref: ICD9:078.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D010322 {source="MONDO:equivalentTo"} xref: SCTID:83223005 {source="MONDO:equivalentTo"} is_a: EFO:0000763 ! viral disease property_value: exactMatch http://identifiers.org/mesh/D010322 property_value: exactMatch http://identifiers.org/snomedct/83223005 [Term] id: MONDO:0025445 name: Wieacker-Wolff syndrome (spectrum) comment: Grouping for the X-linked form seen mostly in males and female-restricted xref: OMIMPS:314580 {source="MONDO:equivalentTo"} is_a: MONDO:0015168 {source="Orphanet:3454-generalized"} ! arthrogryposis multiplex congenita is_a: MONDO:0700223 ! hereditary skeletal muscle disorder property_value: exactMatch https://omim.org/phenotypicSeries/PS314580 [Term] id: MONDO:0025511 name: inherited neuroendocrine tumor def: "An instance of neuroendocrine neoplasm that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders synonym: "genetic neuroendocrine tumor" RELATED [Orphanet:271847] synonym: "genetic neuroendocrine tumour" RELATED OMO:0003005 [] synonym: "hereditary neuroendocrine neoplasm" EXACT [MONDO:patterns/hereditary] xref: Orphanet:271847 {source="MONDO:equivalentTo"} xref: UMLS:CN202530 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:1001901 ! neuroendocrine neoplasm intersection_of: EFO:1001901 ! neuroendocrine neoplasm intersection_of: has_characteristic MONDO:0021152 ! inherited relationship: has_characteristic MONDO:0021136 {source="MONDO:0019041"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202530 property_value: exactMatch Orphanet:271847 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0025708 name: megacystis-microcolon-intestinal hypoperistalsis syndrome 2 synonym: "MMIHS2" EXACT ABBREVIATION [OMIM:619351] xref: OMIM:619351 {source="MONDO:equivalentTo"} is_a: MONDO:0025986 {source="OMIM:619351"} ! megacystis-microcolon-intestinal hypoperistalsis syndrome property_value: exactMatch https://omim.org/entry/619351 [Term] id: MONDO:0025986 name: megacystis-microcolon-intestinal hypoperistalsis syndrome xref: OMIMPS:249210 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0002254 {source="DOID:0060610", source="MONDO:Redundant", source="NCIT:C98982", source="OMIMPS:249210"} ! syndromic disease is_a: MONDO:0021189 {source="OMIMPS:249210", source="Orphanet:2241"} ! intestinal motility disease property_value: exactMatch https://omim.org/phenotypicSeries/PS249210 [Term] id: MONDO:0026045 name: prurigo nodularis def: "Prurigonodularis (PN) is a skin disease in which hard crusty lumps are formed on the skin that itches intensely. Repetitive rubbing, scratching, and touching results in more lesions in the skin. The itching is so intense that people scratch themselves to the point of bleeding or pain. The lumps formed in the skin are hard, and have about a half inch across, with a dry and rough top that is often scratched open. They tend to be located in the areas most easily reached and are worse on the outer sides: arms, shoulders and legs. The trunk, face and even palms can also be affected. The exact cause is unknown but some factors triggering PN include liver and kidneys problems, nervous and mental conditions and other skin diseases. Prurigo nodulares, in some cases, can be seen in other diseases such as lymphoma, chronic autoimmune cholestatic hepatitis, HIV infection, severe anemia,or a chronic kidney disease-related itching known as uremic pruritus. Treatment is very difficult, and may include corticoids, antihistaminic and other medication such as thalidomide and similar (Lenalidomide). In some cases, cryotherapy, photochemotherapy and habit reversal therapy for the itch-scratch cycle has improved the symptoms. PN can last for many years, and the itching is so intense that may affect all the everyday activities." [GARD:0007480] subset: gard_rare is_a: EFO:0000701 ! skin disease [Term] id: MONDO:0026722 name: Mullegama-Klein-Martinez syndrome synonym: "MKMS" RELATED ABBREVIATION [OMIM:301022] synonym: "MULLEGAMA-KLEIN-MARTINEZ SYNDROME" RELATED [OMIM:301022] synonym: "Neurodevelopmental Disorder, X-Linked, With Craniofacial Abnormalities" RELATED [OMIM:301022] xref: DOID:0111845 {source="MONDO:equivalentTo"} xref: OMIM:301022 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIM:301022"} ! genetic disorder property_value: exactMatch DOID:0111845 property_value: exactMatch https://omim.org/entry/301022 [Term] id: MONDO:0026730 name: Basilicata-Akhtar syndrome synonym: "Basilicata-Akhtar syndrome" EXACT [OMIM:301032] synonym: "Basilicata-Akhtar syndrome, X-linked dominant" EXACT [OMIM:301032, OMIM:genemap2] synonym: "Mental Retardation, X-Linked, Syndromic 36" RELATED [OMIM:301032] synonym: "Mental Retardation, X-Linked, Syndromic, Basilicata-Akhtar Type" RELATED [OMIM:301032] synonym: "MRXSBA" RELATED ABBREVIATION [OMIM:301032] xref: DOID:0111838 {source="MONDO:equivalentTo"} xref: OMIM:301032 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: exactMatch DOID:0111838 property_value: exactMatch https://omim.org/entry/301032 property_value: excluded_subClassOf MONDO:0020119 {source="OMIM:301032", source="https://clinicalgenome.org/affiliation/40060/"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0026733 name: intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type synonym: "intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type, X-linked recessive" EXACT [OMIM:301039, OMIM:genemap2] synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE" RELATED [OMIM:301039] synonym: "Mental Retardation, X-Linked, With Marfanoid Habitus, 2" RELATED [OMIM:301039] synonym: "MRXSHD" RELATED ABBREVIATION [OMIM:301039] xref: OMIM:301039 {source="MONDO:equivalentTo"} is_a: MONDO:0020119 {source="OMIM:301039", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch https://omim.org/entry/301039 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0026767 name: immunodeficiency 74, COVID-19-related, X-linked synonym: "IMD74" RELATED ABBREVIATION [OMIM:301051] synonym: "IMMUNODEFICIENCY 74, COVID19-RELATED, X-LINKED" RELATED [OMIM:301051] synonym: "immunodeficiency 74, COVID19-related, X-linked, X-linked recessive" EXACT [OMIM:301051, OMIM:genemap2] synonym: "respiratory insufficiency due to SARS-CoV-2 viral infection" RELATED [OMIM:301051] synonym: "TLR7 deficiency" RELATED [OMIM:301051] xref: DOID:0112063 {source="MONDO:equivalentTo"} xref: OMIM:301051 {source="MONDO:equivalentTo"} is_a: MONDO:0021094 {source="OMIM:301051"} ! immunodeficiency disease property_value: exactMatch DOID:0112063 property_value: exactMatch https://omim.org/entry/301051 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0026768 name: obsolete warfarin sensitivity, X-linked comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none synonym: "Coumarin Sensitivity, X-Linked" RELATED [OMIM:301052] synonym: "Warfarin sensitivity" EXACT [OMIM:301052, OMIM:genemap2] synonym: "WARFARIN SENSITIVITY, X-LINKED" RELATED [OMIM:301052] xref: DOID:0080839 {source="MONDO:obsoleteEquivalent"} xref: OMIM:301052 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch DOID:0080839 property_value: exactMatch https://omim.org/entry/301052 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3637 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI is_obsolete: true [Term] id: MONDO:0027407 name: Kleefstra syndrome 1 def: "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3." [DOID:0070075] synonym: "9q-syndrome" BROAD [DOID:0070075] synonym: "chromosome 9q34.3 deletion syndrome" BROAD [DOID:0070075] synonym: "Kleefstra syndrome" BROAD [DOID:0070075] synonym: "Kleefstra syndrome 1" EXACT [OMIM:610253] synonym: "KLEFS1" BROAD ABBREVIATION [OMIM:610253] xref: DOID:0060352 {source="MONDO:equivalentTo"} xref: DOID:0070075 {source="MONDO:equivalentObsolete"} xref: MESH:C563043 {source="DOID:0060352", source="MONDO:equivalentTo"} xref: NCIT:C129976 {source="MONDO:equivalentTo"} xref: OMIM:610253 {source="DOID:0070075", source="MONDO:equivalentTo"} xref: SCTID:724207001 {source="MONDO:equivalentTo"} xref: UMLS:C0795833 {source="DOID:0060352", source="OMIM:610253", source="Orphanet:261494", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C129976"} is_a: MONDO:0012455 {source="OMIM:610253"} ! Kleefstra syndrome property_value: exactMatch DOID:0060352 property_value: exactMatch http://identifiers.org/mesh/C563043 property_value: exactMatch http://identifiers.org/snomedct/724207001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795833 property_value: exactMatch https://omim.org/entry/610253 property_value: exactMatch NCIT:C129976 property_value: excluded_subClassOf MONDO:0015802 {source="DOID:0070075"} [Term] id: MONDO:0027749 name: serpinopathy subset: disease_grouping subset: ordo_group_of_disorders xref: Orphanet:250805 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="Orphanet:250805", source="https://orcid.org/0000-0002-4142-7153"} ! genetic disorder property_value: exactMatch Orphanet:250805 [Term] id: MONDO:0027766 name: generalized lipodystrophy def: "Almost complete absence of subcutaneous and/or visceral adipose tissue." [NCIT:C131815] synonym: "complete generalised lipodystrophy" EXACT OMO:0003005 [] synonym: "complete generalized lipodystrophy" EXACT [DOID:0080298, Wikipedia:Acquired_generalized_lipodystrophy] xref: DOID:0080298 {source="MONDO:equivalentTo"} xref: HP:0009064 {source="MONDO:otherHierarchy"} xref: NCIT:C131815 {source="MONDO:equivalentTo"} xref: UMLS:C4317112 {source="MONDO:equivalentTo"} is_a: EFO:1000727 {source="DOID:0080298", source="MONDO:Redundant", source="NCIT:C131815"} ! lipodystrophy disjoint_from: MONDO:0027767 ! partial lipodystrophy property_value: exactMatch DOID:0080298 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4317112 property_value: exactMatch NCIT:C131815 [Term] id: MONDO:0027767 name: partial lipodystrophy def: "Loss and redistribution of subcutaneous and/or visceral adipose tissue from specific regions of the body." [NCIT:C131296] xref: DOID:0080299 {source="MONDO:equivalentTo"} xref: NCIT:C131296 {source="MONDO:equivalentTo"} xref: UMLS:C4316789 {source="MONDO:equivalentTo"} is_a: EFO:1000727 {source="DOID:0080299", source="NCIT:C131296"} ! lipodystrophy property_value: exactMatch DOID:0080299 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4316789 property_value: exactMatch NCIT:C131296 [Term] id: MONDO:0027772 name: lung colloid adenocarcinoma def: "A morphologic variant of lung adenocarcinoma characterized by the presence of mucin pools containing islands of well differentiated adenocarcinoma cells." [NCIT:C45512] synonym: "lung colloid adenocarcinoma" EXACT [NCIT:C45512] synonym: "lung mucinous cystadenocarcinoma" EXACT [NCIT:C45512] synonym: "lung mucinous cystic tumor of borderline malignancy" EXACT [NCIT:C45512] synonym: "lung mucinous cystic tumour of borderline malignancy" EXACT OMO:0003005 [] synonym: "mucinous lung adenocarcinoma" RELATED [DOID:0080303] xref: DOID:0080303 {source="MONDO:equivalentTo"} xref: DOID:0080304 {source="MONDO:equivalentTo"} xref: NCIT:C45512 {source="MONDO:equivalentTo"} xref: UMLS:C1708776 {source="MONDO:equivalentTo", source="NCIT:C45512"} is_a: EFO:0000197 {source="MONDO:Redundant", source="NCIT:C45512"} ! mucinous carcinoma is_a: EFO:0000571 {source="DOID:0080303", source="DOID:0080304", source="MONDO:Redundant", source="NCIT:C45512"} ! lung adenocarcinoma property_value: exactMatch DOID:0080303 property_value: exactMatch DOID:0080304 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1708776 property_value: exactMatch NCIT:C45512 [Term] id: MONDO:0028226 name: autosomal recessive severe congenital neutropenia subset: disease_grouping subset: ordo_group_of_disorders xref: NCIT:C176624 {source="MONDO:equivalentTo"} xref: Orphanet:439849 {source="MONDO:equivalentTo"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0018542 {source="Orphanet:439849"} ! severe congenital neutropenia property_value: exactMatch NCIT:C176624 property_value: exactMatch Orphanet:439849 [Term] id: MONDO:0029001 name: obsolete chemically-induced disorder def: "OBSOLETE. Disorders caused by the intentional or unintentional ingestion or exposure to chemical substances such as pharmaceutical preparations; noxae; and pesticides." [MESH:D064419] synonym: "chemically induced disorders" RELATED [MESH:D064419] synonym: "chemically-induced disorder" EXACT [MESH:D064419] synonym: "disorder, chemically-induced" RELATED [MESH:D064419] synonym: "disorders, chemically-induced" RELATED [MESH:D064419] xref: MESH:D064419 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://identifiers.org/mesh/D064419 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3414 xsd:anyURI is_obsolete: true consider: MONDO:0029000 [Term] id: MONDO:0029130 name: polydactyly, postaxial, type A8 synonym: "PAPA8" RELATED ABBREVIATION [OMIM:618123] synonym: "polydactyly, postaxial, type A8" EXACT [OMIM:618123] xref: OMIM:618123 {source="MONDO:equivalentTo"} is_a: MONDO:0019673 ! postaxial polydactyly type A property_value: exactMatch https://omim.org/entry/618123 [Term] id: MONDO:0029131 name: peripheral neuropathy, autosomal recessive, with or without impaired intellectual development synonym: "peripheral neuropathy, autosomal recessive, with or without impaired intellectual development" EXACT [OMIM:618124] synonym: "PNRIID" RELATED ABBREVIATION [OMIM:618124] xref: OMIM:618124 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618124 [Term] id: MONDO:0029133 name: muscular dystrophy, limb-girdle, autosomal dominant 4 synonym: "LGMDD4" RELATED ABBREVIATION [OMIM:618129] synonym: "muscular dystrophy, limb-girdle, autosomal dominant 4" EXACT [OMIM:618129] synonym: "muscular dystrophy, limb-girdle, type 1I" RELATED [OMIM:618129] xref: OMIM:618129 {source="MONDO:equivalentTo"} is_a: MONDO:0015151 {source="https://orcid.org/0000-0001-5208-3432"} ! muscular dystrophy, limb-girdle, autosomal dominant property_value: exactMatch https://omim.org/entry/618129 [Term] id: MONDO:0029134 name: severe combined immunodeficiency due to CARMIL2 deficiency subset: ordo_disease synonym: "IMD58" RELATED ABBREVIATION [OMIM:618131] synonym: "immunodeficiency 58" EXACT [OMIM:618131] xref: DOID:0111984 {source="MONDO:equivalentTo"} xref: OMIM:618131 {source="Orphanet:542301", source="MONDO:equivalentTo"} xref: Orphanet:542301 {source="MONDO:equivalentTo"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0015974 ! severe combined immunodeficiency property_value: exactMatch DOID:0111984 property_value: exactMatch https://omim.org/entry/618131 property_value: exactMatch Orphanet:542301 property_value: excluded_subClassOf MONDO:0000001 {source="Orphanet:542301"} property_value: excluded_subClassOf MONDO:0016537 {source="Orphanet:542301"} [Term] id: MONDO:0029135 name: muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 synonym: "LGMD-POMGNT2 related myopathy" EXACT [https://clinicalgenome.org/affiliation/50061/] synonym: "MDDGC8" RELATED ABBREVIATION [OMIM:618135] synonym: "muscular dystrophy, limb-girdle, autosomal recessive 24" RELATED [OMIM:618135] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8" EXACT [OMIM:618135, OMIM:genemap2] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), TYPE C, 8" RELATED [OMIM:618135] synonym: "Muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related" RELATED [OMIM:618135] xref: DOID:0112382 {source="MONDO:equivalentTo"} xref: OMIM:618135 {source="MONDO:equivalentTo"} is_a: MONDO:0000173 {source="OMIM:618135"} ! muscular dystrophy-dystroglycanopathy, type C is_a: MONDO:0015152 {source="OMIM:618135"} ! autosomal recessive limb-girdle muscular dystrophy is_a: MONDO:0700075 ! congenital muscular dystrophy caused by variation in POMGNT2 property_value: exactMatch DOID:0112382 property_value: exactMatch https://omim.org/entry/618135 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0029136 name: muscular dystrophy, limb-girdle, autosomal recessive 23 subset: ordo_disease {source="Orphanet:565837"} synonym: "laminin subunit alpha 2-related limb-girdle muscular dystrophy R23" EXACT [Orphanet:565837] synonym: "LGMDR23" RELATED ABBREVIATION [OMIM:618138] synonym: "muscular dystrophy, limb-girdle, autosomal recessive 23" EXACT [OMIM:618138] xref: OMIM:618138 {source="MONDO:equivalentTo"} xref: Orphanet:565837 {source="MONDO:equivalentTo"} is_a: MONDO:0015152 {source="OMIM:618138"} ! autosomal recessive limb-girdle muscular dystrophy is_a: MONDO:0100228 {source="PMID:30055037", source="https://clinicalgenome.org/affiliation/40031/"} ! LAMA2-related muscular dystrophy property_value: exactMatch https://omim.org/entry/618138 property_value: exactMatch Orphanet:565837 [Term] id: MONDO:0029137 name: hearing loss, autosomal dominant 74 synonym: "deafness, autosomal dominant 74" NARROW [OMIM:618140, OMIM:genemap2] synonym: "DFNA74" NARROW ABBREVIATION [OMIM:618140] xref: DOID:0112165 {source="MONDO:equivalentTo"} xref: OMIM:618140 {source="MONDO:equivalentTo"} is_a: MONDO:0019587 {source="OMIM:618140"} ! autosomal dominant nonsyndromic hearing loss property_value: exactMatch DOID:0112165 property_value: exactMatch https://omim.org/entry/618140 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/551 xsd:anyURI [Term] id: MONDO:0029140 name: glycosylphosphatidylinositol biosynthesis defect 18 synonym: "developmental and epileptic encephalopathy 95" EXACT [OMIM:618143, OMIM:genemap2] synonym: "glycosylphosphatidylinositol biosynthesis defect 18" EXACT [OMIM:618143] synonym: "GPIBD18" RELATED ABBREVIATION [OMIM:618143] xref: DOID:0070382 {source="MONDO:equivalentTo"} xref: OMIM:618143 {source="MONDO:equivalentTo"} is_a: MONDO:0002525 ! inherited lipid metabolism disorder is_a: MONDO:0015286 ! congenital disorder of glycosylation is_a: MONDO:0024321 ! disorder of GPI anchor biosynthesis property_value: exactMatch DOID:0070382 property_value: exactMatch https://omim.org/entry/618143 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0029143 name: intellectual developmental disorder with hypertelorism and distinctive facies synonym: "chromosome 14q32 deletion syndrome" RELATED [OMIM:618147] synonym: "IDDHDF" RELATED ABBREVIATION [OMIM:618147] synonym: "INTELLECTUAL DEVELOPMENTAL disorder WITH HYPERTELORISM AND DISTINCTIVE FACIES" RELATED [OMIM:618147] xref: OMIM:618147 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618147 [Term] id: MONDO:0029144 name: extraoral halitosis due to methanethiol oxidase deficiency synonym: "EHMTO" RELATED ABBREVIATION [OMIM:618148] synonym: "EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY" RELATED [OMIM:618148] synonym: "extraoral halitosis due to MTO deficiency" EXACT [OMIM:618148, OMIM:genemap2] synonym: "extraoral halitosis with dimethylsulfoxiduria" RELATED [OMIM:618148] synonym: "METHANETHIOL Oxidase Deficiency" RELATED [OMIM:618148] synonym: "MTO Deficiency" RELATED [OMIM:618148] xref: OMIM:618148 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618148 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0029146 name: obsolete Saul-Wilson syndrome is_obsolete: true replaced_by: MONDO:0019407 [Term] id: MONDO:0030004 name: autism, susceptibility to, 20 synonym: "AUTISM, SUSCEPTIBILITY TO, 20" EXACT [OMIM:618830] synonym: "autism, susceptibility to, 20" EXACT [OMIM:618830] synonym: "AUTS20" EXACT ABBREVIATION [OMIM:618830] xref: OMIM:618830 {source="MONDO:equivalentTo"} is_a: MONDO:0020836 {source="OMIM:300425"} ! autism, susceptiblity to property_value: exactMatch https://omim.org/entry/618830 [Term] id: MONDO:0030006 name: combined oxidative phosphorylation deficiency 40 synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40" EXACT [OMIM:618835] synonym: "combined oxidative phosphorylation deficiency 40" EXACT [OMIM:618835] synonym: "COXPD40" EXACT ABBREVIATION [OMIM:618835] xref: DOID:0112117 {source="MONDO:equivalentTo"} xref: OMIM:618835 {source="MONDO:equivalentTo"} xref: Orphanet:570491 {source="MONDO:equivalentTo"} is_a: MONDO:0000732 {source="OMIM:618835"} ! combined oxidative phosphorylation deficiency property_value: exactMatch DOID:0112117 property_value: exactMatch https://omim.org/entry/618835 property_value: exactMatch Orphanet:570491 [Term] id: MONDO:0030007 name: combined oxidative phosphorylation deficiency 41 synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41" EXACT [OMIM:618838] synonym: "combined oxidative phosphorylation deficiency 41" EXACT [OMIM:618838] synonym: "COXPD41" EXACT ABBREVIATION [OMIM:618838] xref: DOID:0112119 {source="MONDO:equivalentTo"} xref: OMIM:618838 {source="MONDO:equivalentTo"} is_a: MONDO:0000732 {source="OMIM:618838"} ! combined oxidative phosphorylation deficiency property_value: exactMatch DOID:0112119 property_value: exactMatch https://omim.org/entry/618838 [Term] id: MONDO:0030008 name: combined oxidative phosphorylation deficiency 42 synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42" EXACT [OMIM:618839] synonym: "combined oxidative phosphorylation deficiency 42" EXACT [OMIM:618839] synonym: "COXPD42" EXACT ABBREVIATION [OMIM:618839] xref: DOID:0112118 {source="MONDO:equivalentTo"} xref: OMIM:618839 {source="MONDO:equivalentTo"} is_a: MONDO:0000732 {source="OMIM:618839"} ! combined oxidative phosphorylation deficiency property_value: exactMatch DOID:0112118 property_value: exactMatch https://omim.org/entry/618839 [Term] id: MONDO:0030013 name: immunodeficiency 66 synonym: "IMD66" EXACT ABBREVIATION [OMIM:618847] synonym: "IMMUNODEFICIENCY 66" EXACT [OMIM:618847] synonym: "immunodeficiency 66" EXACT [OMIM:618847] xref: DOID:0111998 {source="MONDO:equivalentTo"} xref: OMIM:618847 {source="MONDO:equivalentTo"} is_a: MONDO:0021094 {source="OMIM:618847"} ! immunodeficiency disease property_value: exactMatch DOID:0111998 property_value: exactMatch https://omim.org/entry/618847 [Term] id: MONDO:0030015 name: bone marrow failure syndrome 6 synonym: "BMFS6" EXACT ABBREVIATION [OMIM:618849] synonym: "BONE MARROW FAILURE SYNDROME 6" EXACT [OMIM:618849] synonym: "bone marrow failure syndrome 6" EXACT [OMIM:618849] xref: OMIM:618849 {source="MONDO:equivalentTo"} is_a: MONDO:0000159 {source="OMIM:618849"} ! bone marrow failure syndrome property_value: exactMatch https://omim.org/entry/618849 [Term] id: MONDO:0030017 name: combined oxidative phosphorylation deficiency 43 synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43" EXACT [OMIM:618851] synonym: "combined oxidative phosphorylation deficiency 43" EXACT [OMIM:618851] synonym: "COXPD43" EXACT ABBREVIATION [OMIM:618851] xref: DOID:0112116 {source="MONDO:equivalentTo"} xref: OMIM:618851 {source="MONDO:equivalentTo"} is_a: MONDO:0000732 {source="OMIM:618851"} ! combined oxidative phosphorylation deficiency property_value: exactMatch DOID:0112116 property_value: exactMatch https://omim.org/entry/618851 [Term] id: MONDO:0030019 name: anauxetic dysplasia 3 synonym: "ANAUXETIC DYSPLASIA 3" EXACT [OMIM:618853] synonym: "anauxetic dysplasia 3" EXACT [OMIM:618853] synonym: "ANXD3" EXACT ABBREVIATION [OMIM:618853] xref: DOID:0080963 {source="MONDO:equivalentTo"} xref: OMIM:618853 {source="MONDO:equivalentTo"} is_a: MONDO:0011773 {source="OMIM:618853"} ! anauxetic dysplasia property_value: exactMatch DOID:0080963 property_value: exactMatch https://omim.org/entry/618853 [Term] id: MONDO:0030020 name: combined oxidative phosphorylation deficiency 44 synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44" EXACT [OMIM:618855] synonym: "combined oxidative phosphorylation deficiency 44" EXACT [OMIM:618855] synonym: "COXPD44" EXACT ABBREVIATION [OMIM:618855] xref: OMIM:618855 {source="MONDO:equivalentTo"} is_a: MONDO:0000732 {source="OMIM:618855"} ! combined oxidative phosphorylation deficiency property_value: exactMatch https://omim.org/entry/618855 [Term] id: MONDO:0030024 name: neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities synonym: "NEDASB" EXACT ABBREVIATION [OMIM:618859] synonym: "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES" EXACT [OMIM:618859] synonym: "neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities" EXACT [OMIM:618859] xref: OMIM:618859 {source="MONDO:equivalentTo"} is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch https://omim.org/entry/618859 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0030025 name: neurodevelopmental disorder with hypotonia, microcephaly, and seizures synonym: "NEDHYMS" EXACT ABBREVIATION [OMIM:618862] synonym: "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES" EXACT [OMIM:618862] synonym: "neurodevelopmental disorder with hypotonia, microcephaly, and seizures" EXACT [OMIM:618862] xref: OMIM:618862 {source="MONDO:equivalentTo"} is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch https://omim.org/entry/618862 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0030027 name: tremor, hereditary essential, 6 synonym: "ETM6" EXACT ABBREVIATION [OMIM:618866] synonym: "TREMOR, HEREDITARY ESSENTIAL, 6" EXACT [OMIM:618866] synonym: "tremor, hereditary essential, 6" EXACT [OMIM:618866] xref: DOID:0081295 {source="MONDO:equivalentTo"} xref: OMIM:618866 {source="MONDO:equivalentTo"} is_a: EFO:0003108 {source="OMIM:618866"} ! essential tremor property_value: exactMatch DOID:0081295 property_value: exactMatch https://omim.org/entry/618866 [Term] id: MONDO:0030028 name: neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline synonym: "CONATOC" EXACT ABBREVIATION [OMIM:618868] synonym: "NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE" EXACT [OMIM:618868] synonym: "neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline" EXACT [OMIM:618868] xref: OMIM:618868 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618868 [Term] id: MONDO:0030029 name: skeletal dysplasia, mild, with joint laxity and advanced bone age synonym: "SDJLABA" EXACT ABBREVIATION [OMIM:618870] synonym: "SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE" EXACT [OMIM:618870] synonym: "skeletal dysplasia, mild, with joint laxity and advanced bone age" EXACT [OMIM:618870] xref: OMIM:618870 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618870 [Term] id: MONDO:0030030 name: Nizon-Isidor syndrome synonym: "NIZIDS" EXACT ABBREVIATION [OMIM:618872] synonym: "NIZON-ISIDOR SYNDROME" EXACT [OMIM:618872] synonym: "nizon-isidor syndrome" EXACT [OMIM:618872] xref: OMIM:618872 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618872 [Term] id: MONDO:0030031 name: lissencephaly 10 synonym: "LIS10" EXACT ABBREVIATION [OMIM:618873] synonym: "LISSENCEPHALY 10" EXACT [OMIM:618873] synonym: "lissencephaly 10" EXACT [OMIM:618873] xref: DOID:0112229 {source="MONDO:equivalentTo"} xref: OMIM:618873 {source="MONDO:equivalentTo"} is_a: MONDO:0018838 {source="OMIM:618873"} ! lissencephaly spectrum disorders property_value: exactMatch DOID:0112229 property_value: exactMatch https://omim.org/entry/618873 [Term] id: MONDO:0030033 name: seizures, early-onset, with neurodegeneration and brain calcifications synonym: "seizures, early-onset, with neurodegeneration and brain calcification" EXACT [OMIM:618875, OMIM:genemap2] synonym: "SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS" EXACT [OMIM:618875] synonym: "seizures, early-onset, with neurodegeneration and brain calcifications" EXACT [OMIM:618875] synonym: "SENEBAC" EXACT ABBREVIATION [OMIM:618875] xref: OMIM:618875 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618875 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0030034 name: epilepsy, progressive myoclonic, 11 synonym: "EPILEPSY, PROGRESSIVE MYOCLONIC, 11" EXACT [OMIM:618876] synonym: "epilepsy, progressive myoclonic, 11" EXACT [OMIM:618876] synonym: "EPM11" EXACT ABBREVIATION [OMIM:618876] xref: OMIM:618876 {source="MONDO:equivalentTo"} is_a: MONDO:0020074 {source="OMIM:618876"} ! progressive myoclonus epilepsy property_value: exactMatch https://omim.org/entry/618876 [Term] id: MONDO:0030035 name: leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome synonym: "LEUDEN" EXACT ABBREVIATION [OMIM:618877] synonym: "Leuden Syndrome" EXACT [OMIM:618877] synonym: "LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME" EXACT [OMIM:618877] synonym: "leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome" EXACT [OMIM:618877] xref: OMIM:618877 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618877 [Term] id: MONDO:0030036 name: leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome synonym: "LEMSPAD" EXACT ABBREVIATION [OMIM:618878] synonym: "Lemspad Syndrome" EXACT [OMIM:618878] synonym: "LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME" EXACT [OMIM:618878] synonym: "leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome" EXACT [OMIM:618878] xref: OMIM:618878 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618878 [Term] id: MONDO:0030037 name: neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures synonym: "Glycosylphosphatidylinositol Biosynthesis Defect 22" EXACT [OMIM:618879] synonym: "NEDHCAS" EXACT ABBREVIATION [OMIM:618879] synonym: "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES" EXACT [OMIM:618879] synonym: "neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures" EXACT [OMIM:618879] xref: OMIM:618879 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0002525 ! inherited lipid metabolism disorder is_a: MONDO:0015286 ! congenital disorder of glycosylation is_a: MONDO:0024321 {source="https://orcid.org/0000-0001-6330-7526"} ! disorder of GPI anchor biosynthesis is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch https://omim.org/entry/618879 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0030038 name: glaucoma, primary closed-angle synonym: "GLAUCOMA, PRIMARY CLOSED-ANGLE" EXACT [OMIM:618880] synonym: "glaucoma, primary closed-angle" EXACT [OMIM:618880] synonym: "GLCC" EXACT ABBREVIATION [OMIM:618880] xref: OMIM:618880 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618880 [Term] id: MONDO:0030042 name: proteinuria, chronic benign synonym: "PROCHOB" EXACT ABBREVIATION [OMIM:618884] synonym: "PROTEINURIA, CHRONIC BENIGN" EXACT [OMIM:618884] synonym: "proteinuria, chronic benign" EXACT [OMIM:618884, OMIM:genemap2] xref: OMIM:618884 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618884 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0030043 name: congenital disorder of glycosylation, type iit synonym: "Cdg Iit" EXACT [OMIM:618885] synonym: "CDG2T" EXACT ABBREVIATION [OMIM:618885] synonym: "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt" EXACT [OMIM:618885] xref: OMIM:618885 {source="MONDO:equivalentTo"} is_a: EFO:0005546 {source="OMIM:618885"} ! congenital disorder of glycosylation type II property_value: exactMatch https://omim.org/entry/618885 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0030044 name: pseudo-TORCH syndrome 3 synonym: "PSEUDO-TORCH SYNDROME 3" EXACT [OMIM:618886] synonym: "pseudo-torch syndrome 3" EXACT [OMIM:618886] synonym: "PTORCH3" EXACT ABBREVIATION [OMIM:618886] xref: OMIM:618886 {source="MONDO:equivalentTo"} is_a: MONDO:0009626 {source="OMIM:618886"} ! pseudo-TORCH syndrome property_value: exactMatch https://omim.org/entry/618886 [Term] id: MONDO:0030045 name: Liberfarb syndrome def: "A progressive disorder involving connective tissue, bone, retina, ear, and brain, characterized by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature." [OMIM:618889, PMID:31263216] subset: ordo_disorder synonym: "Liberfarb syndrome" EXACT [OMIM:618889, Orphanet:589442] synonym: "LIBF" EXACT ABBREVIATION [OMIM:618889] synonym: "short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome" EXACT [MONDO:0035635] synonym: "spondyloepimetaphyseal dysplasia, Liberfarb Type" EXACT [OMIM:618889] xref: OMIM:618889 {source="MONDO:equivalentTo"} xref: Orphanet:589442 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIM:618889"} ! genetic disorder is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: exactMatch https://omim.org/entry/618889 property_value: exactMatch Orphanet:589442 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4928 xsd:anyURI [Term] id: MONDO:0030046 name: neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity synonym: "NEDBASS" EXACT ABBREVIATION [OMIM:618890] synonym: "NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY" EXACT [OMIM:618890] synonym: "neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity" EXACT [OMIM:618890] xref: OMIM:618890 {source="MONDO:equivalentTo"} is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch https://omim.org/entry/618890 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0030047 name: microcephaly, developmental delay, and brittle hair syndrome synonym: "MDBH" EXACT ABBREVIATION [OMIM:618891] synonym: "MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME" EXACT [OMIM:618891] synonym: "microcephaly, developmental delay, and brittle hair syndrome" EXACT [OMIM:618891] xref: OMIM:618891 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618891 [Term] id: MONDO:0030048 name: harderoporphyria synonym: "HARDEROPORPHYRIA" EXACT ABBREVIATION [OMIM:618892] synonym: "harderoporphyria" EXACT [OMIM:618892] synonym: "HARPO" EXACT ABBREVIATION [OMIM:618892] xref: MESH:C562816 {source="MONDO:equivalentTo"} xref: OMIM:618892 {source="MONDO:equivalentTo"} is_a: MONDO:0800180 {source="https://clinicalgenome.org/affiliation/40097/", source="https://clinicalgenome.org/working-groups/clinical-domain/inborn-errors-of-metabolism/"} ! CPOX-related hereditary coproporphyria property_value: exactMatch http://identifiers.org/mesh/C562816 property_value: exactMatch https://omim.org/entry/618892 [Term] id: MONDO:0030049 name: 46,xx sex reversal 5 synonym: "46,XX SEX REVERSAL 5" EXACT [OMIM:618901] synonym: "46,xx sex reversal 5" EXACT [OMIM:618901] synonym: "SRXX5" EXACT ABBREVIATION [OMIM:618901] xref: DOID:0080943 {source="MONDO:equivalentTo"} xref: OMIM:618901 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch DOID:0080943 property_value: exactMatch https://omim.org/entry/618901 [Term] id: MONDO:0030051 name: intellectual developmental disorder with autistic features and language delay, with or without seizures synonym: "IDDALDS" EXACT ABBREVIATION [OMIM:618906] synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES" EXACT [OMIM:618906] synonym: "intellectual developmental disorder with autistic features and language delay, with or without seizures" EXACT [OMIM:618906] xref: OMIM:618906 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618906 [Term] id: MONDO:0030054 name: developmental and epileptic encephalopathy, 86 synonym: "DEE86" EXACT ABBREVIATION [OMIM:618910] synonym: "developmental and epileptic encephalopathy 86" EXACT [OMIM:618910, OMIM:genemap2] synonym: "EIEE86" EXACT ABBREVIATION [OMIM:618910] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 86" EXACT [OMIM:618910] synonym: "epileptic encephalopathy, early infantile, 86" EXACT [OMIM:618910] xref: DOID:0112220 {source="MONDO:equivalentTo"} xref: OMIM:618910 {source="MONDO:equivalentTo"} is_a: MONDO:0100062 {source="OMIM:618910"} ! developmental and epileptic encephalopathy property_value: exactMatch DOID:0112220 property_value: exactMatch https://omim.org/entry/618910 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0030055 name: sorbitol dehydrogenase deficiency with peripheral neuropathy synonym: "Sorbitol Dehydrogenase Deficiency" EXACT [OMIM:618912] synonym: "SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY" EXACT [OMIM:618912] synonym: "sorbitol dehydrogenase deficiency with peripheral neuropathy" EXACT [OMIM:618912] synonym: "SORDD" EXACT ABBREVIATION [OMIM:618912] xref: OMIM:618912 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618912 [Term] id: MONDO:0030057 name: neurodevelopmental, jaw, eye, and digital syndrome synonym: "NEDJED" EXACT ABBREVIATION [OMIM:618914] synonym: "NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME" EXACT [OMIM:618914] synonym: "neurodevelopmental, jaw, eye, and digital syndrome" EXACT [OMIM:618914] xref: OMIM:618914 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618914 [Term] id: MONDO:0030058 name: hearing loss, autosomal dominant 77 synonym: "deafness, autosomal dominant 77" NARROW [OMIM:618915, OMIM:genemap2] synonym: "DFNA77" NARROW ABBREVIATION [OMIM:618915] xref: DOID:0112168 {source="MONDO:equivalentTo"} xref: OMIM:618915 {source="MONDO:equivalentTo"} is_a: MONDO:0019587 {source="OMIM:618915"} ! autosomal dominant nonsyndromic hearing loss property_value: exactMatch DOID:0112168 property_value: exactMatch https://omim.org/entry/618915 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/551 xsd:anyURI [Term] id: MONDO:0030059 name: developmental and epileptic encephalopathy, 87 synonym: "DEE87" EXACT ABBREVIATION [OMIM:618916] synonym: "developmental and epileptic encephalopathy 87" EXACT [OMIM:618916, OMIM:genemap2] synonym: "EIEE87" EXACT ABBREVIATION [OMIM:618916] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 87" EXACT [OMIM:618916] synonym: "epileptic encephalopathy, early infantile, 87" EXACT [OMIM:618916] xref: DOID:0112221 {source="MONDO:equivalentTo"} xref: OMIM:618916 {source="MONDO:equivalentTo"} is_a: MONDO:0100062 {source="OMIM:618916"} ! developmental and epileptic encephalopathy property_value: exactMatch DOID:0112221 property_value: exactMatch https://omim.org/entry/618916 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0030060 name: neurodevelopmental disorder with language impairment and behavioral abnormalities synonym: "NEDLIB" EXACT ABBREVIATION [OMIM:618917] synonym: "NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES" EXACT [OMIM:618917] synonym: "neurodevelopmental disorder with language impairment and behavioral abnormalities" EXACT [OMIM:618917] xref: OMIM:618917 {source="MONDO:equivalentTo"} is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch https://omim.org/entry/618917 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0030061 name: periventricular nodular heterotopia 9 synonym: "PERIVENTRICULAR NODULAR HETEROTOPIA 9" EXACT [OMIM:618918] synonym: "periventricular nodular heterotopia 9" EXACT [OMIM:618918] synonym: "PVNH9" EXACT ABBREVIATION [OMIM:618918] xref: OMIM:618918 {source="MONDO:equivalentTo"} is_a: MONDO:0020341 {source="OMIM:618918"} ! periventricular nodular heterotopia property_value: exactMatch https://omim.org/entry/618918 [Term] id: MONDO:0030062 name: arrhythmogenic right ventricular dysplasia, familial, 14 synonym: "Arrhythmogenic Right Ventricular Cardiomyopathy 14" EXACT [OMIM:618920] synonym: "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14" EXACT [OMIM:618920] synonym: "arrhythmogenic right ventricular dysplasia, familial, 14" EXACT [OMIM:618920] synonym: "ARVD14" EXACT ABBREVIATION [OMIM:618920] xref: DOID:0080959 {source="MONDO:equivalentTo"} xref: OMIM:618920 {source="MONDO:equivalentTo"} is_a: MONDO:0016342 {source="Orphanet:293910"} ! familial isolated arrhythmogenic right ventricular dysplasia property_value: exactMatch DOID:0080959 property_value: exactMatch https://omim.org/entry/618920 [Term] id: MONDO:0030063 name: neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities synonym: "NEDSHBA" EXACT ABBREVIATION [OMIM:618922] synonym: "neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities" EXACT [OMIM:618922, OMIM:genemap2] synonym: "NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES" EXACT [OMIM:618922] synonym: "neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities" EXACT [OMIM:618922] xref: OMIM:618922 {source="MONDO:equivalentTo"} is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch https://omim.org/entry/618922 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0030064 name: episodic ataxia, type 9 synonym: "EA9" EXACT ABBREVIATION [OMIM:618924] synonym: "EPISODIC ATAXIA, TYPE 9" EXACT [OMIM:618924] synonym: "episodic ataxia, type 9" EXACT [OMIM:618924] xref: OMIM:618924 {source="MONDO:equivalentTo"} is_a: MONDO:0016227 {source="OMIM:618924"} ! hereditary episodic ataxia property_value: exactMatch https://omim.org/entry/618924 [Term] id: MONDO:0030065 name: agenesis of corpus callosum, cardiac, ocular, and genital syndrome synonym: "ACOGS" EXACT ABBREVIATION [OMIM:618929] synonym: "AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME" EXACT [OMIM:618929] synonym: "agenesis of corpus callosum, cardiac, ocular, and genital syndrome" EXACT [OMIM:618929] xref: DOID:0080948 {source="MONDO:equivalentTo"} xref: OMIM:618929 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch DOID:0080948 property_value: exactMatch https://omim.org/entry/618929 [Term] id: MONDO:0030066 name: granulomatous disease, chronic, autosomal recessive, 5 synonym: "CGD5" EXACT ABBREVIATION [OMIM:618935] synonym: "chronic granulomatous disease 5, autosomal recessive" EXACT [OMIM:618935, OMIM:genemap2] synonym: "GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5" EXACT [OMIM:618935] synonym: "granulomatous disease, chronic, autosomal recessive, 5" EXACT [OMIM:618935] synonym: "Granulomatous Disease, Chronic, Due to Cybc1 Deficiency" EXACT [OMIM:618935] xref: DOID:0070368 {source="MONDO:equivalentTo"} xref: OMIM:618935 {source="MONDO:equivalentTo"} is_a: MONDO:0018305 {source="OMIM:618935"} ! chronic granulomatous disease property_value: exactMatch DOID:0070368 property_value: exactMatch https://omim.org/entry/618935 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0030067 name: Treacher Collins syndrome 4 synonym: "TCS4" EXACT ABBREVIATION [OMIM:618939] synonym: "TREACHER COLLINS SYNDROME 4" EXACT [OMIM:618939] synonym: "treacher collins syndrome 4" EXACT [OMIM:618939] synonym: "Treacher-Collins syndrome 4" EXACT [OMIM:618939, OMIM:genemap2] xref: DOID:0080792 {source="MONDO:equivalentTo"} xref: OMIM:618939 {source="MONDO:equivalentTo"} is_a: MONDO:0002457 {source="OMIM:618939"} ! Treacher-Collins syndrome property_value: exactMatch DOID:0080792 property_value: exactMatch https://omim.org/entry/618939 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0030069 name: hyper-IgE recurrent infection syndrome 5, autosomal recessive synonym: "HIES5" EXACT ABBREVIATION [OMIM:618944] synonym: "HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE" EXACT [OMIM:618944] synonym: "hyper-IgE recurrent infection syndrome 5, autosomal recessive" EXACT [OMIM:618944] xref: OMIM:618944 {source="MONDO:equivalentTo"} is_a: MONDO:0018037 {source="OMIM:618944"} ! hyper-IgE syndrome property_value: exactMatch https://omim.org/entry/618944 [Term] id: MONDO:0030070 name: heterotaxy, visceral, 9, autosomal, with male infertility synonym: "HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY" EXACT [OMIM:618948] synonym: "heterotaxy, visceral, 9, autosomal, with male infertility" EXACT [OMIM:618948] synonym: "HTX9" EXACT ABBREVIATION [OMIM:618948] xref: OMIM:618948 {source="MONDO:equivalentTo"} is_a: MONDO:0018677 {source="OMIM:618948"} ! visceral heterotaxy property_value: exactMatch https://omim.org/entry/618948 [Term] id: MONDO:0030071 name: retinitis pigmentosa 89 synonym: "RETINITIS PIGMENTOSA 89" EXACT [OMIM:618955] synonym: "retinitis pigmentosa 89" EXACT [OMIM:618955] synonym: "RP89" EXACT ABBREVIATION [OMIM:618955] xref: DOID:0112146 {source="MONDO:equivalentTo"} xref: OMIM:618955 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch DOID:0112146 property_value: exactMatch https://omim.org/entry/618955 [Term] id: MONDO:0030072 name: developmental and epileptic encephalopathy, 88 synonym: "DEE88" EXACT ABBREVIATION [OMIM:618959] synonym: "developmental and epileptic encephalopathy 88" EXACT [OMIM:618959, OMIM:genemap2] synonym: "EIEE88" EXACT ABBREVIATION [OMIM:618959] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 88" EXACT [OMIM:618959] synonym: "epileptic encephalopathy, early infantile, 88" EXACT [OMIM:618959] xref: DOID:0112222 {source="MONDO:equivalentTo"} xref: OMIM:618959 {source="MONDO:equivalentTo"} is_a: MONDO:0100062 {source="OMIM:618959"} ! developmental and epileptic encephalopathy property_value: exactMatch DOID:0112222 property_value: exactMatch https://omim.org/entry/618959 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0030073 name: Mitchell syndrome synonym: "ACOX1 dysregulation" EXACT [https://clinicalgenome.org/affiliation/40049/, PMID:32169171] synonym: "MITCH" EXACT ABBREVIATION [OMIM:618960] synonym: "Mitchell syndrome" EXACT [OMIM:618960] xref: OMIM:618960 {source="MONDO:equivalentTo"} xref: Orphanet:631248 {source="MONDO:equivalentTo"} is_a: MONDO:0100306 {source="https://github.com/monarch-initiative/mondo/issues/5083"} ! disorder of defective peroxisome oxidative status property_value: exactMatch https://omim.org/entry/618960 property_value: exactMatch Orphanet:631248 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5083 xsd:anyURI [Term] id: MONDO:0030074 name: spondylometaphyseal dysplasia with corneal dystrophy synonym: "SMDCD" EXACT ABBREVIATION [OMIM:618961] synonym: "SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY" EXACT [OMIM:618961] synonym: "spondylometaphyseal dysplasia with corneal dystrophy" EXACT [OMIM:618961] xref: DOID:0112303 {source="MONDO:equivalentTo"} xref: OMIM:618961 {source="MONDO:equivalentTo"} xref: Orphanet:589435 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch DOID:0112303 property_value: exactMatch https://omim.org/entry/618961 property_value: exactMatch Orphanet:589435 [Term] id: MONDO:0030087 name: diabetes mellitus, permanent neonatal 2 synonym: "Developmental Delay, Epilepsy, and Neonatal Diabetes 1" EXACT [OMIM:618856] synonym: "DIABETES MELLITUS, PERMANENT NEONATAL 2" EXACT [OMIM:618856] synonym: "diabetes mellitus, permanent neonatal 2" EXACT [OMIM:618856] synonym: "diabetes, permanent neonatal 2, with or without neurologic features" EXACT [OMIM:618856, OMIM:genemap2] synonym: "PNDM2" EXACT ABBREVIATION [OMIM:618856] xref: OMIM:618856 {source="MONDO:equivalentTo"} is_a: MONDO:0100164 {source="OMIM:618856"} ! permanent neonatal diabetes mellitus property_value: exactMatch https://omim.org/entry/618856 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0030088 name: diabetes mellitus, permanent neonatal 3 synonym: "Developmental Delay, Epilepsy, and Neonatal Diabetes 2" EXACT [OMIM:618857] synonym: "DIABETES MELLITUS, PERMANENT NEONATAL 3" EXACT [OMIM:618857] synonym: "diabetes mellitus, permanent neonatal 3" EXACT [OMIM:618857] synonym: "diabetes mellitus, permanent neonatal 3, with or without neurologic features" EXACT [OMIM:618857, OMIM:genemap2] synonym: "PNDM3" EXACT ABBREVIATION [OMIM:618857] xref: OMIM:618857 {source="MONDO:equivalentTo"} is_a: MONDO:0100164 {source="OMIM:618857"} ! permanent neonatal diabetes mellitus property_value: exactMatch https://omim.org/entry/618857 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0030089 name: diabetes mellitus, permanent neonatal 4 synonym: "DIABETES MELLITUS, PERMANENT NEONATAL 4" EXACT [OMIM:618858] synonym: "diabetes mellitus, permanent neonatal 4" EXACT [OMIM:618858] synonym: "PNDM4" EXACT ABBREVIATION [OMIM:618858] xref: OMIM:618858 {source="MONDO:equivalentTo"} is_a: MONDO:0100164 {source="OMIM:618858"} ! permanent neonatal diabetes mellitus property_value: exactMatch https://omim.org/entry/618858 [Term] id: MONDO:0030105 name: galactosemia 4 synonym: "GALAC4" EXACT ABBREVIATION [OMIM:618881] synonym: "Galactose Mutarotase Deficiency" EXACT [OMIM:618881] synonym: "GALACTOSEMIA IV" EXACT [OMIM:618881] synonym: "galactosemia iv" EXACT [OMIM:618881] synonym: "GALM mutarotase deficiency" RELATED [https://orcid.org/0000-0002-9731-6356] xref: OMIM:618881 {source="MONDO:equivalentTo"} xref: Orphanet:570422 {source="MONDO:equivalentTo"} is_a: MONDO:0018116 {source="OMIM:618881"} ! galactosemia is_a: MONDO:0800152 {source="PMID:33340416"} ! disorder of galactose and fructose metabolism property_value: exactMatch https://omim.org/entry/618881 property_value: exactMatch Orphanet:570422 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5835 xsd:anyURI [Term] id: MONDO:0030118 name: silver-russell syndrome 4 synonym: "SILVER-RUSSELL SYNDROME 4" EXACT [OMIM:618907] synonym: "silver-russell syndrome 4" EXACT [OMIM:618907] synonym: "SRS4" EXACT ABBREVIATION [OMIM:618907] xref: OMIM:618907 {source="MONDO:equivalentTo"} is_a: MONDO:0008394 {source="OMIM:618907"} ! Silver-Russell syndrome property_value: exactMatch https://omim.org/entry/618907 [Term] id: MONDO:0030134 name: oculopharyngodistal myopathy 2 synonym: "OCULOPHARYNGODISTAL MYOPATHY 2" EXACT [OMIM:618940] synonym: "oculopharyngodistal myopathy 2" EXACT [OMIM:618940] synonym: "OPDM2" EXACT ABBREVIATION [OMIM:618940] xref: DOID:0081298 {source="MONDO:equivalentTo"} xref: OMIM:618940 {source="MONDO:equivalentTo"} is_a: MONDO:0025193 {source="OMIM:618940"} ! oculopharyngodistal myopathy property_value: exactMatch DOID:0081298 property_value: exactMatch https://omim.org/entry/618940 [Term] id: MONDO:0030260 name: pontocerebellar hypoplasia, type 1E synonym: "PCH1E" EXACT ABBREVIATION [OMIM:619303] synonym: "pontocerebellar hypoplasia, type 1E" EXACT [OMIM:619303] xref: DOID:0112330 {source="MONDO:equivalentTo"} xref: OMIM:619303 {source="MONDO:equivalentTo"} is_a: MONDO:0020135 {source="OMIM:619303"} ! pontocerebellar hypoplasia property_value: exactMatch DOID:0112330 property_value: exactMatch https://omim.org/entry/619303 [Term] id: MONDO:0030353 name: Joubert syndrome 38 synonym: "JBTS38" EXACT ABBREVIATION [OMIM:619476] synonym: "Joubert syndrome 38" EXACT [OMIM:619476] xref: OMIM:619476 {source="MONDO:equivalentTo"} is_a: MONDO:0018772 {source="OMIM:619476"} ! Joubert syndrome property_value: exactMatch https://omim.org/entry/619476 [Term] id: MONDO:0030356 name: short-rib thoracic dysplasia 21 without polydactyly synonym: "short-rib thoracic dysplasia 21 without polydactyly" EXACT [OMIM:619479] synonym: "SRTD21" EXACT ABBREVIATION [OMIM:619479] xref: OMIM:619479 {source="MONDO:equivalentTo"} is_a: MONDO:0018770 {source="OMIM:619479"} ! Jeune syndrome property_value: exactMatch https://omim.org/entry/619479 [Term] id: MONDO:0030361 name: Aicardi-Goutieres syndrome 8 def: "A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration ending in premature death. Brain imaging shows diffusely abnormal white matter, severe cerebral atrophy, and intracranial calcification." [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X, PMID:33230297] synonym: "AGS8" EXACT ABBREVIATION [OMIM:619486] synonym: "Aicardi-Goutieres syndrome 8" EXACT [OMIM:619486] xref: OMIM:619486 {source="MONDO:equivalentTo"} is_a: MONDO:0018866 {source="OMIM:619486"} ! Aicardi-Goutieres syndrome property_value: exactMatch https://omim.org/entry/619486 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5261 xsd:anyURI [Term] id: MONDO:0030362 name: Aicardi-Goutieres syndrome 9 def: "A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration. Patients present in infancy with irritability and spasticity. Brain imaging shows diffusely abnormal white matter, cerebral atrophy, and intracranial calcification. Premature death has been associated with renal and/or hepatic failure." [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X, PMID:33230297] synonym: "AGS9" EXACT ABBREVIATION [OMIM:619487] synonym: "Aicardi-Goutieres syndrome 9" EXACT [OMIM:619487] xref: OMIM:619487 {source="MONDO:equivalentTo"} is_a: MONDO:0018866 {source="OMIM:619487"} ! Aicardi-Goutieres syndrome property_value: exactMatch https://omim.org/entry/619487 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5261 xsd:anyURI [Term] id: MONDO:0030423 name: congenital disorder of glycosylation, type 2v synonym: "CDG2V" EXACT ABBREVIATION [OMIM:619493] xref: OMIM:619493 {source="MONDO:equivalentTo"} is_a: EFO:0005546 {source="OMIM:619493"} ! congenital disorder of glycosylation type II property_value: exactMatch https://omim.org/entry/619493 [Term] id: MONDO:0030434 name: epilepsy, idiopathic generalized, susceptibility to, 18 synonym: "EIG18" EXACT ABBREVIATION [OMIM:619521] xref: OMIM:619521 {source="MONDO:equivalentTo"} is_a: MONDO:0020573 {source="OMIM:619521"} ! inherited disease susceptibility relationship: predisposes_towards EFO:0005917 ! generalised epilepsy property_value: exactMatch https://omim.org/entry/619521 property_value: excluded_subClassOf MONDO:0005579 {source="OMIM:619521"} [Term] id: MONDO:0030458 name: Charcot-Marie-Tooth disease, axonal, Type 2HH synonym: "CMT2HH" EXACT ABBREVIATION [OMIM:619574] xref: OMIM:619574 {source="MONDO:equivalentTo"} is_a: MONDO:0015626 {source="OMIM:619574"} ! Charcot-Marie-Tooth disease property_value: exactMatch https://omim.org/entry/619574 [Term] id: MONDO:0030472 name: developmental and epileptic encephalopathy 98 synonym: "DEE98" EXACT ABBREVIATION [OMIM:619605] xref: DOID:0070384 {source="MONDO:equivalentTo"} xref: OMIM:619605 {source="MONDO:equivalentTo"} is_a: MONDO:0100062 {source="OMIM:619605"} ! developmental and epileptic encephalopathy property_value: exactMatch DOID:0070384 property_value: exactMatch https://omim.org/entry/619605 [Term] id: MONDO:0030473 name: developmental and epileptic encephalopathy 99 synonym: "DEE99" EXACT ABBREVIATION [OMIM:619606] xref: DOID:0070385 {source="MONDO:equivalentTo"} xref: OMIM:619606 {source="MONDO:equivalentTo"} is_a: MONDO:0100062 {source="OMIM:619606"} ! developmental and epileptic encephalopathy property_value: exactMatch DOID:0070385 property_value: exactMatch https://omim.org/entry/619606 [Term] id: MONDO:0030502 name: tetrasomy def: "A chromosomal disorder consisting of the presence of two chromosomes of the same type in addition to the normal diploid number." [https://orcid.org/0000-0002-4142-7153] xref: EFO:1001297 {source="MONDO:equivalentTo"} xref: MESH:D058670 {source="MONDO:equivalentTo"} xref: NCIT:C36601 {source="MONDO:relatedTo"} is_a: MONDO:0700064 {source="https://orcid.org/0000-0002-4142-7153"} ! aneuploidy property_value: exactMatch http://identifiers.org/mesh/D058670 property_value: relatedMatch NCIT:C36601 [Term] id: MONDO:0030603 name: Klebsiella infectious disease def: "Infections with bacteria of the genus KLEBSIELLA." [MESH:D007710] synonym: "infection, Klebsiella" RELATED [MESH:D007710] synonym: "infections, Klebsiella" RELATED [MESH:D007710] synonym: "Klebsiella caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Klebsiella disease or disorder" EXACT [] synonym: "Klebsiella infection" RELATED [MESH:D007710] xref: EFO:1001353 {source="MONDO:equivalentTo"} xref: MESH:D007710 {source="MONDO:equivalentTo"} xref: SCTID:721756002 {source="MONDO:equivalentTo"} is_a: EFO:0000771 ! bacterial disease property_value: exactMatch http://identifiers.org/mesh/D007710 property_value: exactMatch http://identifiers.org/snomedct/721756002 [Term] id: MONDO:0030693 name: immunodeficiency 96 def: "An autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Other infections, including gastrointestinal and urinary tract infections, may also occur. Laboratory studies show hypogammaglobulinemia, lymphopenia with increased gamma/delta T cells, and erythrocyte macrocytosis. The disorder results from defective cellular DNA repair." [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X, OMIM:619774] synonym: "IMD96" EXACT ABBREVIATION [OMIM:619774] synonym: "immunodeficiency 96" EXACT [OMIM:619774] synonym: "immunodeficiency, autosomal recessive due to LIG1 deficiency" EXACT [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X] xref: OMIM:619774 {source="MONDO:equivalentTo"} is_a: MONDO:0021094 {source="OMIM:619774"} ! immunodeficiency disease property_value: exactMatch https://omim.org/entry/619774 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5261 xsd:anyURI [Term] id: MONDO:0030756 name: Stuve-Wiedemann syndrome 2 synonym: "Stuve-Wiedemann syndrome 2" EXACT [OMIM:619751] synonym: "STWS2" EXACT ABBREVIATION [OMIM:619751] xref: OMIM:619751 {source="MONDO:equivalentTo"} is_a: MONDO:0031280 {source="OMIM:619751"} ! Stuve-Wiedemann syndrome property_value: exactMatch https://omim.org/entry/619751 [Term] id: MONDO:0030768 name: epidermolysis bullosa, junctional 5A, intermediate synonym: "epidermolysis bullosa, junctional 5A, generalised intermediate" EXACT OMO:0003005 [] synonym: "epidermolysis bullosa, junctional 5A, generalized intermediate" EXACT [OMIM:619816] synonym: "epidermolysis bullosa, junctional 5A, intermediate" EXACT [OMIM:619816] synonym: "epidermolysis bullosa, junctional 5A, non-herlitz IIA" EXACT [OMIM:619816] synonym: "JEB5A" EXACT ABBREVIATION [OMIM:619816] xref: OMIM:619816 {source="MONDO:equivalentTo"} is_a: MONDO:0017612 {source="OMIM:619816"} ! junctional epidermolysis bullosa property_value: exactMatch https://omim.org/entry/619816 [Term] id: MONDO:0030781 name: restrictive dermopathy 2 synonym: "restrictive dermopathy 2" EXACT [OMIM:619793] synonym: "restrictive dermopathy 2, lethal" EXACT [OMIM:619793] synonym: "RSDM2" EXACT ABBREVIATION [OMIM:619793] xref: DOID:0070370 {source="MONDO:equivalentTo"} xref: OMIM:619793 {source="MONDO:equivalentTo"} is_a: MONDO:0031213 {source="OMIM:619793"} ! restrictive dermopathy property_value: exactMatch DOID:0070370 property_value: exactMatch https://omim.org/entry/619793 [Term] id: MONDO:0030809 name: spermatogenic failure 72 synonym: "spermatogenic failure 72" EXACT [OMIM:619867] synonym: "SPGF72" EXACT ABBREVIATION [OMIM:619867] xref: OMIM:619867 {source="MONDO:equivalentTo"} is_a: EFO:0000279 {source="OMIM:619867"} ! azoospermia property_value: exactMatch https://omim.org/entry/619867 [Term] id: MONDO:0030844 name: spermatogenic failure 47 synonym: "spermatogenic failure 47" EXACT [OMIM:619102] synonym: "SPGF47" EXACT ABBREVIATION [OMIM:619102] xref: DOID:0112175 {source="MONDO:equivalentTo"} xref: OMIM:619102 {source="MONDO:equivalentTo"} is_a: EFO:0000279 {source="OMIM:619102"} ! azoospermia property_value: exactMatch DOID:0112175 property_value: exactMatch https://omim.org/entry/619102 [Term] id: MONDO:0030846 name: spermatogenic failure 48 synonym: "spermatogenic failure 48" EXACT [OMIM:619108] synonym: "SPGF48" EXACT ABBREVIATION [OMIM:619108] xref: DOID:0112176 {source="MONDO:equivalentTo"} xref: OMIM:619108 {source="MONDO:equivalentTo"} is_a: EFO:0000279 {source="OMIM:619108"} ! azoospermia property_value: exactMatch DOID:0112176 property_value: exactMatch https://omim.org/entry/619108 [Term] id: MONDO:0030847 name: arthrogryposis, distal, type 1C synonym: "arthrogryposis, distal, type 1C" EXACT [OMIM:619110] synonym: "DA1C" EXACT ABBREVIATION [OMIM:619110] xref: DOID:0112190 {source="MONDO:equivalentTo"} xref: OMIM:619110 {source="MONDO:equivalentTo"} is_a: MONDO:0019942 {source="OMIM:619110"} ! distal arthrogryposis property_value: exactMatch DOID:0112190 property_value: exactMatch https://omim.org/entry/619110 [Term] id: MONDO:0030861 name: osteogenesis imperfecta, type 21 synonym: "OI21" EXACT ABBREVIATION [OMIM:619131] synonym: "osteogenesis imperfecta 21" EXACT [OMIM:619131, OMIM:genemap2] synonym: "osteogenesis imperfecta, TYPE XXI" EXACT [OMIM:619131] xref: DOID:0112201 {source="MONDO:equivalentTo"} xref: OMIM:619131 {source="MONDO:equivalentTo"} is_a: MONDO:0019019 {source="OMIM:619131"} ! osteogenesis imperfecta property_value: exactMatch DOID:0112201 property_value: exactMatch https://omim.org/entry/619131 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0030866 name: neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities synonym: "NEDCASB" EXACT ABBREVIATION [OMIM:619121] xref: OMIM:619121 {source="MONDO:equivalentTo"} is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch https://omim.org/entry/619121 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0030867 name: thrombocytopenia 7 synonym: "THC7" EXACT ABBREVIATION [OMIM:619130] synonym: "thrombocytopenia 7" EXACT [OMIM:619130] synonym: "Thrombocytopenia, Autosomal Dominant, 7" EXACT ABBREVIATION [OMIM:619130] xref: OMIM:619130 {source="MONDO:equivalentTo"} is_a: MONDO:0100241 {source="OMIM:619130"} ! inherited thrombocytopenia property_value: exactMatch https://omim.org/entry/619130 [Term] id: MONDO:0030868 name: spermatogenic failure 49 synonym: "spermatogenic failure 49" EXACT [OMIM:619144] synonym: "SPGF49" EXACT ABBREVIATION [OMIM:619144] xref: DOID:0112271 {source="MONDO:equivalentTo"} xref: OMIM:619144 {source="MONDO:equivalentTo"} is_a: EFO:0000279 {source="OMIM:619144"} ! azoospermia property_value: exactMatch DOID:0112271 property_value: exactMatch https://omim.org/entry/619144 [Term] id: MONDO:0030869 name: spermatogenic failures 50 synonym: "spermatogenic failure" BROAD [OMIM:619145, OMIM:genemap2] synonym: "spermatogenic failures 50" EXACT [OMIM:619145] synonym: "SPGF50" EXACT ABBREVIATION [OMIM:619145] xref: DOID:0112272 {source="MONDO:equivalentTo"} xref: OMIM:619145 {source="MONDO:equivalentTo"} is_a: EFO:0000279 {source="OMIM:619145"} ! azoospermia property_value: exactMatch DOID:0112272 property_value: exactMatch https://omim.org/entry/619145 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0030893 name: leukoencephalopathy, progressive, infantile-onset, with or without deafness synonym: "LEPID" EXACT ABBREVIATION [OMIM:619147] xref: OMIM:619147 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/entry/619147 [Term] id: MONDO:0030898 name: immunodeficiency 76 def: "An autosomal recessive primary immunologic disorder characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show T-cell lymphopenia and may show variable B-cell or immunoglobulin abnormalities. More variable features found in some patients include lymphoma and neurologic features. Although bone marrow transplantation may be curative, many patients die in childhood." [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X, OMIM:619164] synonym: "combined immunodeficiency due to FCHO1 deficiency" EXACT [Orphanet:647804] synonym: "IMD76" EXACT ABBREVIATION [OMIM:619164] synonym: "immunodeficiency 76" EXACT [OMIM:619164] synonym: "immunodeficiency due to FCHO1 deficiency" EXACT [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X] xref: OMIM:619164 {source="MONDO:equivalentTo"} xref: Orphanet:647804 {source="MONDO:equivalentTo"} is_a: MONDO:0021094 {source="OMIM:619164"} ! immunodeficiency disease property_value: exactMatch https://omim.org/entry/619164 property_value: exactMatch Orphanet:647804 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5261 xsd:anyURI [Term] id: MONDO:0030900 name: intellectual developmental disorder with paroxysmal dyskinesia or seizures synonym: "IDDPADS" EXACT ABBREVIATION [OMIM:619150] xref: OMIM:619150 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/entry/619150 [Term] id: MONDO:0030907 name: intellectual disability, X-linked 106 synonym: "intellectual developmental disorder, X-linked 106, X-linked recessive" EXACT [OMIM:300997, OMIM:genemap2] synonym: "intellectual disability, X-linked 106" EXACT [OMIM:300997] synonym: "mental retardation, X-linked 106" RELATED DEPRECATED [OMIM:300997] synonym: "MRX106" RELATED DEPRECATED [OMIM:300997] synonym: "X-linked intellectual disability 106" RELATED [DOID:0080240] synonym: "X-linked mental retardation 106" RELATED DEPRECATED [DOID:0080240] xref: DOID:0080240 {source="MONDO:equivalentTo"} xref: OMIM:300997 {source="DOID:0080240", source="MONDO:equivalentTo"} is_a: MONDO:0019181 {source="DOID:0080240", source="OMIM:300997"} ! non-syndromic X-linked intellectual disability property_value: exactMatch DOID:0080240 property_value: exactMatch https://omim.org/entry/300997 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0030908 name: intellectual disability, X-linked, syndromic, 35 synonym: "intellectual developmental disorder, X-linked, syndromic, 35, X-linked recessive" EXACT [OMIM:300998, OMIM:genemap2] synonym: "intellectual disability, X-linked, syndromic, 35" EXACT [OMIM:300998] synonym: "mental retardation, X-linked, syndromic, 35" RELATED DEPRECATED [OMIM:300998] synonym: "MRXS35" RELATED DEPRECATED [OMIM:300998] synonym: "syndromic X-linked intellectual disability 35" RELATED [DOID:0080241] synonym: "syndromic X-linked mental retardation 35" RELATED DEPRECATED [DOID:0080241] xref: DOID:0080241 {source="MONDO:equivalentTo"} xref: OMIM:300998 {source="DOID:0080241", source="MONDO:equivalentTo"} xref: Orphanet:435938 {source="MONDO:directSiblingOf", source="OMIM:300998"} xref: Orphanet:459070 {source="MONDO:relatedTo", source="OMIM:300998"} is_a: MONDO:0020119 {source="DOID:0080241", source="OMIM:300998", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: exactMatch DOID:0080241 property_value: exactMatch https://omim.org/entry/300998 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0030910 name: intellectual disability, autosomal dominant 45 synonym: "autosomal dominant intellectual disability 45" RELATED [DOID:0080236] synonym: "autosomal dominant mental retardation 45" RELATED DEPRECATED [DOID:0080236] synonym: "intellectual disability, autosomal dominant 45" EXACT [OMIM:617600] synonym: "mental retardation, autosomal dominant 45" RELATED DEPRECATED [OMIM:617600] synonym: "MRD45" RELATED DEPRECATED [OMIM:617600] xref: DOID:0080236 {source="MONDO:equivalentTo"} xref: OMIM:617600 {source="MONDO:equivalentTo", source="DOID:0080236"} xref: UMLS:CN368509 {source="MONDO:equivalentTo"} is_a: MONDO:0015802 {source="DOID:0080236", source="OMIM:617600"} ! autosomal dominant non-syndromic intellectual disability property_value: exactMatch DOID:0080236 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN368509 property_value: exactMatch https://omim.org/entry/617600 [Term] id: MONDO:0030912 name: intellectual disability, autosomal dominant 47 subset: ordo_malformation_syndrome synonym: "autosomal dominant intellectual disability 47" RELATED [DOID:0080238] synonym: "autosomal dominant mental retardation 47" RELATED DEPRECATED [DOID:0080238] synonym: "intellectual disability, autosomal dominant 47" EXACT [OMIM:617635] synonym: "mental retardation, autosomal dominant 47" RELATED DEPRECATED [OMIM:617635] synonym: "MRD47" RELATED DEPRECATED [OMIM:617635] synonym: "STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome" EXACT [MONDO:0044716] xref: DOID:0080238 {source="MONDO:equivalentTo"} xref: OMIM:617635 {source="Orphanet:502434", source="MONDO:equivalentTo", source="DOID:0080238"} xref: Orphanet:502434 {source="OMIM:617635", source="MONDO:equivalentTo"} xref: UMLS:CN429988 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:502434"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015802 {source="DOID:0080238", source="OMIM:617635"} ! autosomal dominant non-syndromic intellectual disability property_value: exactMatch DOID:0080238 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN429988 property_value: exactMatch https://omim.org/entry/617635 property_value: exactMatch Orphanet:502434 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:502434"} [Term] id: MONDO:0030914 name: Clark-Baraitser syndrome subset: gard_rare {source="GARD:0009994"} synonym: "autosomal dominant intellectual disability 49" RELATED [DOID:0080234] synonym: "autosomal dominant mental retardation 49" RELATED DEPRECATED [DOID:0080234] synonym: "Baraitser syndrome" RELATED [OMIM:300602] synonym: "Clark-Baraitser syndrome" EXACT [OMIM:300602] synonym: "intellectual disability, autosomal dominant 49" EXACT [OMIM:617752] synonym: "intellectual disability, tall stature, obesity, macrocephaly and typical facial features" RELATED [GARD:0009994] synonym: "mental retardation, autosomal dominant 49" RELATED DEPRECATED [OMIM:617752] synonym: "mental retardation, tall stature, obesity, macrocephaly and typical facial features" RELATED DEPRECATED [GARD:0009994] synonym: "MRD49" EXACT DEPRECATED [OMIM:617752] xref: DOID:0080234 {source="MONDO:equivalentTo"} xref: MESH:C536208 {source="MONDO:equivalentTo"} xref: OMIM:300602 {source="MONDO:equivalentObsolete"} xref: OMIM:617752 {source="MONDO:equivalentTo", source="DOID:0080234"} xref: Orphanet:600731 {source="MONDO:equivalentTo"} xref: UMLS:C2931130 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300602"} xref: UMLS:CN593636 {source="MONDO:equivalentTo"} is_a: MONDO:0015802 {source="DOID:0080234", source="OMIM:617752"} ! autosomal dominant non-syndromic intellectual disability property_value: exactMatch DOID:0080234 property_value: exactMatch http://identifiers.org/mesh/C536208 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931130 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN593636 property_value: exactMatch https://omim.org/entry/617752 property_value: exactMatch Orphanet:600731 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9994/clark-baraitser-syndrome xsd:anyURI {source="GARD:0009994"} [Term] id: MONDO:0030916 name: intellectual disability, autosomal dominant 50 synonym: "autosomal dominant intellectual disability 50" RELATED [DOID:0080233] synonym: "autosomal dominant mental retardation 50" RELATED DEPRECATED [DOID:0080233] synonym: "intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities" EXACT [OMIM:617787, OMIM:genemap2] synonym: "intellectual developmental disorder, autosomal dominant 50, with behavioural abnormalities" EXACT OMO:0003005 [] synonym: "intellectual disability, autosomal dominant 50" EXACT [OMIM:617787] synonym: "mental retardation, autosomal dominant 50" RELATED DEPRECATED [OMIM:617787] synonym: "MRD50" RELATED DEPRECATED [OMIM:617787] xref: DOID:0080233 {source="MONDO:equivalentTo"} xref: OMIM:617787 {source="DOID:0080233", source="MONDO:equivalentTo"} xref: UMLS:CN671930 {source="MONDO:equivalentTo"} is_a: MONDO:0015802 {source="DOID:0080233", source="OMIM:617787"} ! autosomal dominant non-syndromic intellectual disability property_value: exactMatch DOID:0080233 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN671930 property_value: exactMatch https://omim.org/entry/617787 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0030917 name: intellectual disability, autosomal dominant 51 synonym: "autosomal dominant intellectual disability 51" RELATED [DOID:0080232] synonym: "autosomal dominant mental retardation 51" RELATED DEPRECATED [DOID:0080232] synonym: "intellectual disability, autosomal dominant 51" EXACT [OMIM:617788] synonym: "mental retardation, autosomal dominant 51" RELATED DEPRECATED [OMIM:617788] synonym: "MRD51" RELATED DEPRECATED [OMIM:617788] xref: DOID:0080232 {source="MONDO:equivalentTo"} xref: OMIM:617788 {source="DOID:0080232", source="MONDO:equivalentTo"} xref: UMLS:CN671931 {source="MONDO:equivalentTo"} is_a: MONDO:0015802 {source="DOID:0080232", source="OMIM:617788"} ! autosomal dominant non-syndromic intellectual disability property_value: exactMatch DOID:0080232 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN671931 property_value: exactMatch https://omim.org/entry/617788 [Term] id: MONDO:0030922 name: intellectual disability, autosomal dominant 56 synonym: "autosomal dominant intellectual disability 56" RELATED [DOID:0080226] synonym: "autosomal dominant mental retardation 56" RELATED DEPRECATED [DOID:0080226] synonym: "intellectual disability, autosomal dominant 56" EXACT [OMIM:617854] synonym: "mental retardation, autosomal dominant 56" RELATED DEPRECATED [OMIM:617854] synonym: "MRD56" RELATED DEPRECATED [OMIM:617854] xref: DOID:0080226 {source="MONDO:equivalentTo"} xref: OMIM:617854 {source="MONDO:equivalentTo", source="DOID:0080226"} xref: Orphanet:442835 {source="MONDO:relatedTo", source="OMIM:617854"} xref: UMLS:CN787270 {source="MONDO:equivalentTo"} is_a: MONDO:0015802 {source="DOID:0080226", source="OMIM:617854"} ! autosomal dominant non-syndromic intellectual disability property_value: exactMatch DOID:0080226 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN787270 property_value: exactMatch https://omim.org/entry/617854 [Term] id: MONDO:0030923 name: frontotemporal dementia and/or amyotrophic lateral sclerosis xref: OMIMPS:105500 {source="MONDO:equivalentTo"} is_a: MONDO:0024237 {source="OMIMPS:105500"} ! inherited neurodegenerative disorder property_value: exactMatch https://omim.org/phenotypicSeries/PS105500 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0030926 name: spermatogenic failure 51 synonym: "spermatogenic failure 51" EXACT [OMIM:619177] synonym: "SPGF51" EXACT ABBREVIATION [OMIM:619177] xref: DOID:0112273 {source="MONDO:equivalentTo"} xref: OMIM:619177 {source="MONDO:equivalentTo"} is_a: EFO:0000279 {source="OMIM:619177"} ! azoospermia property_value: exactMatch DOID:0112273 property_value: exactMatch https://omim.org/entry/619177 [Term] id: MONDO:0030937 name: mitochondrial complex 2 deficiency, nuclear type 3 synonym: "MC2DN3" EXACT ABBREVIATION [OMIM:619167] synonym: "mitochondrial complex 2 deficiency, nuclear type 3" EXACT [OMIM:619167] synonym: "mitochondrial complex II deficiency, nuclear type 3" EXACT [OMIM:619167, OMIM:genemap2] xref: OMIM:619167 {source="MONDO:equivalentTo"} is_a: MONDO:0031230 {source="OMIM:619167"} ! mitochondrial complex II deficiency, nuclear type property_value: exactMatch https://omim.org/entry/619167 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0030938 name: spermatogenic failure 52 synonym: "spermatogenic failure 52" EXACT [OMIM:619202] synonym: "SPGF52" EXACT ABBREVIATION [OMIM:619202] xref: DOID:0112270 {source="MONDO:equivalentTo"} xref: OMIM:619202 {source="MONDO:equivalentTo"} is_a: EFO:0000279 {source="OMIM:619202"} ! azoospermia property_value: exactMatch DOID:0112270 property_value: exactMatch https://omim.org/entry/619202 [Term] id: MONDO:0030963 name: Li-Campeau syndrome synonym: "LICAS" EXACT ABBREVIATION [OMIM:619189] xref: OMIM:619189 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/entry/619189 [Term] id: MONDO:0030981 name: immunodeficiency 79 subset: gard_rare synonym: "CD4 Deficiency" EXACT [OMIM:619238] synonym: "IMD79" EXACT [OMIM:619238] synonym: "immunodeficiency 79" EXACT [OMIM:619238] xref: DOID:0112277 {source="MONDO:equivalentTo"} xref: OMIM:619238 {source="MONDO:equivalentTo"} is_a: MONDO:0015974 {source="DOID:0060018"} ! severe combined immunodeficiency property_value: exactMatch DOID:0112277 property_value: exactMatch https://omim.org/entry/619238 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5062 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9523/cd4-deficiency xsd:anyURI {source="GARD:0009523"} [Term] id: MONDO:0030991 name: bile acid conjugation defect 1 synonym: "BACD1" EXACT ABBREVIATION [OMIM:619232] xref: OMIM:619232 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/entry/619232 [Term] id: MONDO:0030994 name: neurodevelopmental disorder with or without autism or seizures synonym: "NEDAUS" EXACT ABBREVIATION [OMIM:619239] synonym: "neurodevelopmental disorder with or without autism or seizures" EXACT [] xref: OMIM:619239 {source="MONDO:equivalentTo"} is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch https://omim.org/entry/619239 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0030995 name: global developmental delay with speech and behavioral abnormalities synonym: "GDSBA" EXACT ABBREVIATION [OMIM:619243] xref: OMIM:619243 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/entry/619243 [Term] id: MONDO:0030996 name: bleeding disorder, platelet-type, 24 synonym: "BDPLT24" EXACT [OMIM:619271] synonym: "bleeding disorder, platelet-type, 24" EXACT [OMIM:619271] synonym: "bleeding disorder, platelet-type, 24, autosomal dominant" EXACT [OMIM:619271, OMIM:genemap2] synonym: "Glanzmann Thrombasthenia-Like With Macrothrombocytopenia 2" EXACT [OMIM:619271] xref: OMIM:619271 {source="MONDO:equivalentTo"} is_a: MONDO:0000009 {source="OMIM:619271"} ! inherited bleeding disorder, platelet-type property_value: exactMatch https://omim.org/entry/619271 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0031001 name: vitreoretinopathy with phalangeal epiphyseal dysplasia synonym: "VPED" EXACT ABBREVIATION [OMIM:619248] xref: OMIM:619248 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/entry/619248 [Term] id: MONDO:0031037 name: famililal cerebral cavernous malformations def: "A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages." [Orphanet:221061] subset: ordo_malformation_syndrome {source="Orphanet:221061"} synonym: "cavernous angioma, familial" RELATED [OMIM:116860] synonym: "cavernous angiomatous malformations" RELATED [OMIM:116860] synonym: "cavernous malformations of CNS and retina" RELATED [OMIM:116860] synonym: "CCM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:116860] synonym: "cerebral capillary malformations" RELATED [OMIM:116860] synonym: "cerebral cavernous malformations" RELATED [MONDO:Lexical, OMIM:116860] synonym: "familial brain cavernous angioma" EXACT [Orphanet:221061] synonym: "familial brain cavernous hemangioma" EXACT [Orphanet:221061] synonym: "familial cerebral cavernoma" EXACT [Orphanet:221061] synonym: "familial cerebral cavernous malformation" EXACT [MONDO:0007291] synonym: "famililal cerebral cavernous malformations" EXACT [] synonym: "hereditary brain cavernous angioma" EXACT [Orphanet:221061] synonym: "hereditary brain cavernous hemangioma" EXACT [Orphanet:221061] synonym: "hereditary cerebral cavernoma" EXACT [Orphanet:221061] synonym: "hereditary cerebral cavernous malformation" EXACT [MONDO:patterns/hereditary, Orphanet:221061] synonym: "hyperkeratotic cutaneous capillary-Venous malformations associated with cerebral capillary malformations" RELATED [OMIM:116860] xref: OMIMPS:116860 {source="MONDO:equivalentTo"} xref: Orphanet:221061 {source="OMIM:116860", source="MONDO:equivalentTo"} xref: SCTID:717003001 {source="MONDO:equivalentTo"} xref: UMLS:C2931263 {source="MONDO:equivalentTo", source="Orphanet:221061"} is_a: MONDO:0000820 {source="DC-OMIM:116860", source="MONDO:Entailed", source="MONDO:Redundant", source="OMIMPS:116860"} ! cerebral cavernous malformation is_a: MONDO:0015145 {source="Orphanet:221061"} ! neurovascular malformation is_a: MONDO:0016229 {source="MONDO:0018730-obsoleted"} ! hereditary vascular anomaly is_a: MONDO:0016230 {source="MONDO:0016232-obsoleted"} ! simple vascular malformation is_a: MONDO:0043218 ! neurovascular disorder intersection_of: MONDO:0000820 ! cerebral cavernous malformation intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/snomedct/717003001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931263 property_value: exactMatch https://omim.org/phenotypicSeries/PS116860 property_value: exactMatch Orphanet:221061 [Term] id: MONDO:0031061 name: nephrotic syndrome, IIa 26 synonym: "nephrotic syndrome, IIa 26" EXACT [OMIM:620049] synonym: "NPHS26" EXACT ABBREVIATION [OMIM:620049] xref: OMIM:620049 {source="MONDO:equivalentTo"} is_a: MONDO:0002350 {source="OMIM:620049"} ! familial nephrotic syndrome property_value: exactMatch https://omim.org/entry/620049 [Term] id: MONDO:0031166 name: macular dystrophy, retinal xref: OMIMPS:136550 {source="MONDO:equivalentTo"} is_a: MONDO:0020242 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary macular dystrophy property_value: exactMatch https://omim.org/phenotypicSeries/PS136550 [Term] id: MONDO:0031169 name: odontochondrodysplasia xref: OMIMPS:184260 {source="MONDO:equivalentTo"} is_a: MONDO:0016763 {source="Orphanet:166272"} ! spondylometaphyseal dysplasia property_value: exactMatch https://omim.org/phenotypicSeries/PS184260 [Term] id: MONDO:0031213 name: restrictive dermopathy xref: DOID:0060762 {source="MONDO:equivalentTo"} xref: OMIMPS:275210 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIMPS:275210"} ! genetic disorder property_value: exactMatch DOID:0060762 property_value: exactMatch https://omim.org/phenotypicSeries/PS275210 [Term] id: MONDO:0031219 name: mismatch repair cancer syndrome xref: DOID:0112182 {source="MONDO:equivalentTo"} xref: OMIMPS:276300 {source="MONDO:equivalentTo"} is_a: EFO:0008499 {source="OMIMPS:276300"} ! DNA repair deficiency property_value: exactMatch DOID:0112182 property_value: exactMatch https://omim.org/phenotypicSeries/PS276300 [Term] id: MONDO:0031230 name: mitochondrial complex II deficiency, nuclear type xref: OMIMPS:252011 {source="MONDO:equivalentTo"} is_a: MONDO:0009637 {source="OMIMPS:252011"} ! inborn mitochondrial myopathy property_value: exactMatch https://omim.org/phenotypicSeries/PS252011 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0031280 name: Stuve-Wiedemann syndrome xref: OMIMPS:601559 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIMPS:601559"} ! genetic disorder property_value: exactMatch https://omim.org/phenotypicSeries/PS601559 [Term] id: MONDO:0031323 name: cardiac valvular defect xref: OMIMPS:212093 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/phenotypicSeries/PS212093 [Term] id: MONDO:0031332 name: Glanzmann thrombasthenia 1 def: "A bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia" [Orphanet:849] subset: ordo_disease {source="Orphanet:849"} synonym: "BDPLT2" EXACT ABBREVIATION [DOID:2219] synonym: "bleeding disorder, Platelet-type, 2" RELATED [OMIM:273800] synonym: "deficiency of glycoprotein complex IIb-IIIa" EXACT [DOID:2219] synonym: "deficiency of GP 2B 3A complex" RELATED [GARD:0002478] synonym: "deficiency of GP IIb-IIIa complex" EXACT [DOID:2219] synonym: "deficiency of platelet fibrinogen receptor" EXACT [DOID:2219] synonym: "Diacyclothrombopathia 2B 3A" RELATED [GARD:0002478] synonym: "Glanzmann thrombasthenia" BROAD [DOID:2219, MONDO:Lexical, OMIM:273800] synonym: "Glanzmann thrombasthenia 1" EXACT [] synonym: "Glanzmann thrombasthenia type A" RELATED [GARD:0002478] synonym: "Glanzmann's thrombasthenia" BROAD [MONDO:0010119] synonym: "glycoprotein Complex IIb-IIIa, deficiency of" RELATED [OMIM:273800] synonym: "glycoprotein IIb/IIIa defect" EXACT [DOID:2219] synonym: "GP IIb-IIIa Complex, deficiency of" RELATED [OMIM:273800] synonym: "GT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:273800] synonym: "Platelet fibrinogen receptor, deficiency of" RELATED [OMIM:273800] synonym: "Platelet glycoprotein 2B 3A deficiency" RELATED [GARD:0002478] synonym: "Platelet glycoprotein IIb-IIIa deficiency" RELATED [OMIM:273800] synonym: "platelet glycoprotein IIb-IIIa deficiency" EXACT [DOID:2219] synonym: "platelet-type bleeding disorder 2" EXACT [DOID:2219] synonym: "thrombasthenia" EXACT [NCIT:C61249] synonym: "thrombasthenia of Glanzmann and Naegeli" EXACT [DOID:2219, OMIM:273800] synonym: "Thrombocytasthenia" EXACT [DOID:2219] xref: DOID:2219 {source="MONDO:equivalentTo"} xref: MESH:D013915 {source="MONDO:equivalentTo", source="DOID:2219"} xref: NCIT:C61249 {source="MONDO:equivalentTo", source="DOID:2219"} xref: OMIM:273800 {source="MONDO:equivalentTo", source="Orphanet:849", source="DOID:2219", source="Orphanet:849/e"} xref: SCTID:32942005 {source="MONDO:equivalentTo", source="DOID:2219"} is_a: MONDO:0100326 {source="OMIM:273800"} ! Glanzmann thrombasthenia property_value: exactMatch DOID:2219 property_value: exactMatch http://identifiers.org/mesh/D013915 property_value: exactMatch http://identifiers.org/snomedct/32942005 property_value: exactMatch https://omim.org/entry/273800 property_value: exactMatch NCIT:C61249 [Term] id: MONDO:0031421 name: Olmsted syndrome def: "A hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques." [https://orcid.org/0000-0001-5208-3432, Orphanet:659] synonym: "mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques" EXACT [Orphanet:659] synonym: "palmoplantar and periorificial keratoderma" EXACT [OMIM:614594, Orphanet:659] synonym: "palmoplantar keratoderma, mutilating, with periorificial keratotic plaques" EXACT [MONDO:0019014, OMIM:614594] xref: DOID:0112011 {source="MONDO:equivalentTo"} xref: MedDRA:10068842 {source="Orphanet:659", source="Orphanet:659/e"} xref: OMIMPS:614594 {source="MONDO:equivalentTo"} xref: Orphanet:659 {source="MONDO:equivalentTo", source="GARD:0004075", source="OMIM:614594"} xref: UMLS:C2609071 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:659", source="GARD:0004075", source="Orphanet:659/e", source="OMIM:614594"} is_a: MONDO:0017670 {source="OMIMPS:614594"} ! autosomal dominant diffuse mutilating palmoplantar keratoderma property_value: closeMatch http://identifiers.org/meddra/10068842 property_value: exactMatch DOID:0112011 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2609071 property_value: exactMatch https://omim.org/phenotypicSeries/PS614594 property_value: exactMatch Orphanet:659 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0031422 name: familial mucolipidosis xref: OMIMPS:256550 {source="MONDO:equivalentTo"} is_a: MONDO:0019248 {source="https://orcid.org/0000-0001-5208-3432"} ! mucolipidosis property_value: exactMatch https://omim.org/phenotypicSeries/PS256550 [Term] id: MONDO:0031439 name: short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies xref: OMIMPS:617877 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIMPS:617877"} ! genetic disorder property_value: exactMatch https://omim.org/phenotypicSeries/PS617877 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0031446 name: hypercholanemia, familial 1 def: "A very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent." [Orphanet:238475] subset: ordo_disease {source="Orphanet:238475"} synonym: "FHCA1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607748] synonym: "hereditary hypercholanemia" BROAD [Orphanet:238475] xref: MESH:C564336 {source="MONDO:equivalentTo"} xref: OMIM:607748 {source="Orphanet:238475/e", source="MONDO:equivalentTo", source="Orphanet:238475"} xref: Orphanet:238475 {source="OMIM:607748", source="MONDO:equivalentTo"} xref: SCTID:723360007 {source="MONDO:equivalentTo"} xref: UMLS:C1843139 {source="OMIM:607748", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:238475"} is_a: MONDO:0100327 {source="OMIM:607748"} ! hypercholanemia, familial property_value: exactMatch http://identifiers.org/mesh/C564336 property_value: exactMatch http://identifiers.org/snomedct/723360007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843139 property_value: exactMatch https://omim.org/entry/607748 property_value: exactMatch Orphanet:238475 [Term] id: MONDO:0031481 name: microcephaly, epilepsy, and diabetes syndrome 1 subset: ordo_disease {source="Orphanet:306558"} synonym: "MEDS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614231] synonym: "microcephaly, epilepsy, and diabetes syndrome" BROAD [MONDO:Lexical, OMIM:614231, OMIM:genemap2] synonym: "primary microcephaly-epilepsy-permanent neonatal diabetes syndrome" EXACT [MONDO:0013647] xref: OMIM:614231 {source="Orphanet:306558", source="MONDO:equivalentTo", source="Orphanet:306558/e"} xref: Orphanet:306558 {source="MONDO:equivalentTo", source="OMIM:614231"} xref: UMLS:C3280240 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614231"} is_a: MONDO:0100328 {source="OMIM:614231"} ! microcephaly, epilepsy, and diabetes syndrome relationship: has_characteristic MONDO:0021136 {source="MONDO:0015967"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280240 property_value: exactMatch https://omim.org/entry/614231 property_value: exactMatch Orphanet:306558 property_value: excluded_subClassOf MONDO:0005015 {source="Orphanet:306558"} property_value: excluded_subClassOf MONDO:0015655 {source="Orphanet:306558"} property_value: excluded_subClassOf MONDO:0017119 {source="Orphanet:306558"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0031520 name: familial severe combined immunodeficiency xref: OMIMPS:601457 {source="MONDO:equivalentTo"} is_a: MONDO:0015974 {source="https://orcid.org/0000-0001-5208-3432"} ! severe combined immunodeficiency property_value: exactMatch https://omim.org/phenotypicSeries/PS601457 [Term] id: MONDO:0031615 name: familial bent bone dysplasia syndrome xref: OMIMPS:614592 {source="MONDO:equivalentTo"} is_a: MONDO:0019698 {source="https://orcid.org/0000-0001-5208-3432"} ! bent bone dysplasia property_value: exactMatch https://omim.org/phenotypicSeries/PS614592 [Term] id: MONDO:0032485 name: intellectual developmental disorder 61 synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER 61" RELATED [OMIM:618009] synonym: "Mental Retardation, Autosomal Dominant 61" RELATED [OMIM:618009] synonym: "MRD61" RELATED ABBREVIATION [OMIM:618009] xref: OMIM:618009 {source="MONDO:equivalentTo"} is_a: MONDO:0015802 {source="OMIM:618009"} ! autosomal dominant non-syndromic intellectual disability property_value: exactMatch https://omim.org/entry/618009 [Term] id: MONDO:0032591 name: hyperparathyroidism, transient neonatal synonym: "HRPTTN" EXACT ABBREVIATION [OMIM:618188] synonym: "hyperparathyroidism, transient neonatal" EXACT [OMIM:618188] xref: OMIM:618188 {source="MONDO:equivalentTo"} is_a: MONDO:0016166 {source="OMIM:618188"} ! hereditary hyperparathyroidism is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder property_value: exactMatch https://omim.org/entry/618188 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0032594 name: intellectual developmental disorder and retinitis pigmentosa; IDDRP synonym: "IDDRP" RELATED ABBREVIATION [OMIM:618195] synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA" RELATED [OMIM:618195] xref: OMIM:618195 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIM:618195"} ! genetic disorder is_a: EFO:0005548 ! developmental disorder of mental health relationship: disease_has_feature MONDO:0019200 ! retinitis pigmentosa property_value: exactMatch https://omim.org/entry/618195 [Term] id: MONDO:0032610 name: mitochondrial complex 1 deficiency, nuclear type 5 synonym: "MC1DN5" RELATED ABBREVIATION [OMIM:618226] synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5" RELATED [OMIM:618226] xref: DOID:0112068 {source="MONDO:equivalentTo"} xref: OMIM:618226 {source="MONDO:equivalentTo"} is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type property_value: exactMatch DOID:0112068 property_value: exactMatch https://omim.org/entry/618226 [Term] id: MONDO:0032637 name: ciliary dyskinesia, primary, 39 synonym: "CILD39" RELATED ABBREVIATION [OMIM:618254] synonym: "CILIARY DYSKINESIA, PRIMARY, 39" RELATED [OMIM:618254] synonym: "Ciliary Dyskinesia, Primary, 39, With or Without Situs Inversus" RELATED [OMIM:618254] xref: DOID:0111854 {source="MONDO:equivalentTo"} xref: OMIM:618254 {source="MONDO:equivalentTo"} is_a: MONDO:0016575 {source="OMIM:618254"} ! primary ciliary dyskinesia property_value: exactMatch DOID:0111854 property_value: exactMatch https://omim.org/entry/618254 [Term] id: MONDO:0032641 name: mirror movements 4 synonym: "MIRROR MOVEMENTS 4" RELATED [OMIM:618264] synonym: "MRMV4" RELATED ABBREVIATION [OMIM:618264] xref: OMIM:618264 {source="MONDO:equivalentTo"} is_a: MONDO:0016558 {source="OMIM:618264"} ! familial congenital mirror movements property_value: exactMatch https://omim.org/entry/618264 [Term] id: MONDO:0032664 name: ciliary dyskinesia, primary, 40 synonym: "CILD40" RELATED ABBREVIATION [OMIM:618300] synonym: "CILIARY DYSKINESIA, PRIMARY, 40" RELATED [OMIM:618300] synonym: "Ciliary Dyskinesia, Primary, 40, With or Without Situs Inversus" RELATED [OMIM:618300] xref: DOID:0111853 {source="MONDO:equivalentTo"} xref: OMIM:618300 {source="MONDO:equivalentTo"} is_a: MONDO:0016575 {source="OMIM:618300"} ! primary ciliary dyskinesia property_value: exactMatch DOID:0111853 property_value: exactMatch https://omim.org/entry/618300 [Term] id: MONDO:0032677 name: lissencephaly 9 with complex brainstem malformation synonym: "LIS9" RELATED ABBREVIATION [OMIM:618325] synonym: "LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION" RELATED [OMIM:618325] xref: DOID:0112228 {source="MONDO:equivalentTo"} xref: OMIM:618325 {source="MONDO:equivalentTo"} xref: Orphanet:572013 {source="MONDO:equivalentTo"} is_a: MONDO:0100472 {source="https://www.clinicalgenome.org/affiliation/40020/"} ! lissencephaly spectrum disorder with complex brainstem malformation property_value: exactMatch DOID:0112228 property_value: exactMatch https://omim.org/entry/618325 property_value: exactMatch Orphanet:572013 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6271 xsd:anyURI [Term] id: MONDO:0032681 name: encephalopathy, progressive, early-onset, with episodic rhabdomyolysis synonym: "ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS" RELATED [OMIM:618331] synonym: "PEERB" RELATED ABBREVIATION [OMIM:618331] xref: OMIM:618331 {source="MONDO:equivalentTo"} is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy property_value: exactMatch https://omim.org/entry/618331 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5671 xsd:anyURI [Term] id: MONDO:0032684 name: intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency synonym: "IMAGE-I syndrome" EXACT [OMIM:618336, OMIM:genemap2] synonym: "IMAGEI" RELATED ABBREVIATION [OMIM:618336] synonym: "Imagei Syndrome" RELATED [OMIM:618336] synonym: "INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY" RELATED [OMIM:618336] xref: OMIM:618336 {source="MONDO:equivalentTo"} is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder property_value: exactMatch https://omim.org/entry/618336 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0032687 name: intellectual developmental disorder with abnormal behavior, microcephaly, and short stature synonym: "IDDABS" RELATED ABBREVIATION [OMIM:618342] synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE" RELATED [OMIM:618342] xref: DOID:0081265 {source="MONDO:equivalentTo"} xref: OMIM:618342 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIM:618342"} ! genetic disorder property_value: exactMatch DOID:0081265 property_value: exactMatch https://omim.org/entry/618342 [Term] id: MONDO:0032688 name: polymicrogyria with or without vascular-type Ehlers-Danlos syndrome synonym: "PMGEDSV" RELATED ABBREVIATION [OMIM:618343] synonym: "polymicrogyria with or without vascular-type EDS" EXACT [OMIM:618343, OMIM:genemap2] synonym: "POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME" RELATED [OMIM:618343] synonym: "vascular Ehlers-Danlos-polymicrogyria syndrome" EXACT [Orphanet:636941] xref: OMIM:618343 {source="MONDO:equivalentTo"} xref: Orphanet:636941 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIM:618343"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618343 property_value: exactMatch Orphanet:636941 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0032697 name: neurodevelopmental disorder and language delay with or without structural brain abnormalities synonym: "NEDLBA" RELATED ABBREVIATION [OMIM:618354] synonym: "NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES" RELATED [OMIM:618354] xref: OMIM:618354 {source="MONDO:equivalentTo"} is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch https://omim.org/entry/618354 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0032698 name: neurodevelopmental disorder with central and peripheral motor dysfunction synonym: "NEDCPMD" RELATED ABBREVIATION [OMIM:618356] synonym: "NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION" RELATED [OMIM:618356] xref: OMIM:618356 {source="MONDO:equivalentTo"} is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch https://omim.org/entry/618356 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0032728 name: Charcot-Marie-Tooth disease, axonal, type 2EE synonym: "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE" RELATED [OMIM:618400] synonym: "Charcot-Marie-Tooth Neuropathy, Type 2Ee" RELATED [OMIM:618400] synonym: "CMT2EE" RELATED ABBREVIATION [OMIM:618400] xref: DOID:0111559 {source="MONDO:equivalentTo"} xref: OMIM:618400 {source="MONDO:equivalentTo"} is_a: MONDO:0018993 {source="MONDO:cjm", source="OMIM:618400"} ! Charcot-Marie-Tooth disease type 2 property_value: exactMatch DOID:0111559 property_value: exactMatch https://omim.org/entry/618400 [Term] id: MONDO:0032737 name: spastic paraplegia 80, autosomal dominant synonym: "SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT" RELATED [OMIM:618418] synonym: "SPG80" RELATED ABBREVIATION [OMIM:618418] xref: DOID:0112341 {source="MONDO:equivalentTo"} xref: OMIM:618418 {source="MONDO:equivalentTo"} is_a: MONDO:0019064 {source="OMIM:618418"} ! hereditary spastic paraplegia property_value: exactMatch DOID:0112341 property_value: exactMatch https://omim.org/entry/618418 [Term] id: MONDO:0032745 name: developmental delay with variable intellectual impairment and behavioral abnormalities synonym: "DDVIBA" RELATED ABBREVIATION [OMIM:618430] synonym: "DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES" RELATED [OMIM:618430] synonym: "developmental delay with variable intellectual impairment and behavioral abnormalities" EXACT [] xref: OMIM:618430 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIM:618430"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618430 [Term] id: MONDO:0032751 name: arthrogryposis, distal, type 2B3 synonym: "arthrogryposis, distal, type 2B3" EXACT [OMIM:618436] synonym: "arthrogryposis, distal, type 2B3 (Sheldon-Hall)" EXACT [OMIM:618436, OMIM:genemap2] synonym: "DA2B3" EXACT ABBREVIATION [DOID:0111602, OMIM:618436] synonym: "distal arthrogryposis type 2B3 (Sheldon-Hall)" EXACT [DOID:0111602] xref: DOID:0111602 {source="MONDO:equivalentTo"} xref: OMIM:618436 {source="DOID:0111602", source="MONDO:equivalentTo"} is_a: MONDO:0000426 {source="DOID:0111602"} ! autosomal dominant disease is_a: MONDO:0011128 {source="DOID:0111602"} ! Sheldon-hall syndrome property_value: exactMatch DOID:0111602 property_value: exactMatch https://omim.org/entry/618436 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0032755 name: neurodevelopmental disorder with or without variable brain abnormalities; NEDBA synonym: "NEDBA" RELATED ABBREVIATION [OMIM:618443] synonym: "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES" RELATED [OMIM:618443] xref: OMIM:618443 {source="MONDO:equivalentTo"} is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch https://omim.org/entry/618443 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0032760 name: developmental delay with or without dysmorphic facies and autism synonym: "DEDDFA" RELATED ABBREVIATION [OMIM:618454] synonym: "DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM" RELATED [OMIM:618454] xref: OMIM:618454 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIM:618454"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618454 [Term] id: MONDO:0032763 name: immunodeficiency 62 synonym: "IMD62" RELATED ABBREVIATION [OMIM:618459] synonym: "IMMUNODEFICIENCY 62" RELATED [OMIM:618459] synonym: "immunodeficiency 62" EXACT [] xref: DOID:0111991 {source="MONDO:equivalentTo"} xref: OMIM:618459 {source="MONDO:equivalentTo"} is_a: MONDO:0021094 {source="OMIM:618459"} ! immunodeficiency disease property_value: exactMatch DOID:0111991 property_value: exactMatch https://omim.org/entry/618459 [Term] id: MONDO:0032781 name: congenital hypotonia, epilepsy, developmental delay, and digital anomalies synonym: "CHEDDA" RELATED ABBREVIATION [OMIM:618494] synonym: "CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES" RELATED [OMIM:618494] xref: OMIM:618494 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIM:618494"} ! genetic disorder relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch https://omim.org/entry/618494 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0032787 name: holoprosencephaly 12 with or without pancreatic agenesis synonym: "HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS" RELATED [OMIM:618500] synonym: "holoprosencephaly 12, with or without pancreatic agenesis" EXACT [OMIM:618500, OMIM:genemap2] synonym: "HPE12" RELATED ABBREVIATION [OMIM:618500] xref: OMIM:618500 {source="MONDO:equivalentTo"} is_a: MONDO:0016296 {source="OMIM:618500"} ! holoprosencephaly property_value: exactMatch https://omim.org/entry/618500 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0032790 name: neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities synonym: "NEDCFSA" RELATED ABBREVIATION [OMIM:618505] synonym: "NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES" RELATED [OMIM:618505] xref: OMIM:618505 {source="MONDO:equivalentTo"} is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch https://omim.org/entry/618505 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0032795 name: intellectual developmental disorder 59 synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER 59" RELATED [OMIM:618522] synonym: "intellectual developmental disorder 59" EXACT [] synonym: "Mental Retardation, Autosomal Dominant 59" RELATED [OMIM:618522] synonym: "MRD59" RELATED ABBREVIATION [OMIM:618522] xref: OMIM:618522 {source="MONDO:equivalentTo"} is_a: MONDO:0015802 {source="OMIM:618522"} ! autosomal dominant non-syndromic intellectual disability property_value: exactMatch https://omim.org/entry/618522 [Term] id: MONDO:0032799 name: mitochondrial DNA depletion syndrome 16 (hepatic type) synonym: "MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE)" RELATED [OMIM:618528] synonym: "MTDPS16" RELATED ABBREVIATION [OMIM:618528] xref: OMIM:618528 {source="MONDO:equivalentTo"} is_a: MONDO:0018158 {source="OMIM:618528"} ! mitochondrial DNA depletion syndrome property_value: exactMatch https://omim.org/entry/618528 [Term] id: MONDO:0032805 name: hypopigmentation, organomegaly, and delayed myelination and development synonym: "HOD" RELATED ABBREVIATION [OMIM:618541] synonym: "HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT" RELATED [OMIM:618541] xref: OMIM:618541 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIM:618541"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618541 [Term] id: MONDO:0032843 name: oculopharyngeal myopathy with leukoencephalopathy 1 synonym: "OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1" RELATED [OMIM:618637] synonym: "OPML1" RELATED ABBREVIATION [OMIM:618637] xref: OMIM:618637 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIM:618637"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618637 [Term] id: MONDO:0032874 name: ciliary dyskinesia, primary, 43 synonym: "CILD43" RELATED ABBREVIATION [OMIM:618699] synonym: "CILIARY DYSKINESIA, PRIMARY, 43" RELATED [OMIM:618699] synonym: "Ciliary Dyskinesia, Primary, 43, With or Without Situs Inversus" RELATED [OMIM:618699] xref: DOID:0111856 {source="MONDO:equivalentTo"} xref: OMIM:618699 {source="MONDO:equivalentTo"} is_a: MONDO:0016575 {source="OMIM:618699"} ! primary ciliary dyskinesia property_value: exactMatch DOID:0111856 property_value: exactMatch https://omim.org/entry/618699 [Term] id: MONDO:0032882 name: Heyn-Sproul-Jackson syndrome synonym: "HESJAS" RELATED ABBREVIATION [OMIM:618724] synonym: "HEYN-SPROUL-JACKSON SYNDROME" RELATED [OMIM:618724] synonym: "Microcephaly, Short Stature, and Impaired Intellectual Development" RELATED [OMIM:618724] xref: OMIM:618724 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIM:618724"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618724 [Term] id: MONDO:0032884 name: ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies synonym: "ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES" RELATED [OMIM:618727] synonym: "ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic" EXACT [OMIM:618727, OMIM:genemap2] synonym: "EDFAOB" RELATED ABBREVIATION [OMIM:618727] xref: OMIM:618727 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIM:618727"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618727 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0032885 name: spondyloepimetaphyseal dysplasia, Isidor-Toutain type synonym: "SEMDIST" RELATED ABBREVIATION [OMIM:618728] synonym: "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE" RELATED [OMIM:618728] xref: OMIM:618728 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIM:618728"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618728 [Term] id: MONDO:0032886 name: Liang-Wang syndrome synonym: "LIANG-WANG SYNDROME" RELATED [OMIM:618729] synonym: "LIWAS" RELATED ABBREVIATION [OMIM:618729] xref: OMIM:618729 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIM:618729"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618729 [Term] id: MONDO:0032887 name: neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity synonym: "NEDMCMS" RELATED ABBREVIATION [OMIM:618730] synonym: "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY" RELATED [OMIM:618730] synonym: "Vandervore-Schot Syndrome" RELATED [OMIM:618730] xref: OMIM:618730 {source="MONDO:equivalentTo"} is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch https://omim.org/entry/618730 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0032888 name: neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies synonym: "NEDBAVC" RELATED ABBREVIATION [OMIM:618731] synonym: "NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES" RELATED [OMIM:618731] xref: OMIM:618731 {source="MONDO:equivalentTo"} is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch https://omim.org/entry/618731 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0032889 name: Poirier-Bienvenu neurodevelopmental syndrome synonym: "POBINDS" RELATED ABBREVIATION [OMIM:618732] synonym: "POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME" RELATED [OMIM:618732] xref: OMIM:618732 {source="MONDO:equivalentTo"} is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch https://omim.org/entry/618732 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0032890 name: neuromuscular disease and ocular or auditory anomalies with or without seizures synonym: "NEUROMUSCULAR DISEASE AND OCULAR OR AUDITORY ANOMALIES WITH OR WITHOUT SEIZURES" RELATED [OMIM:618733] synonym: "NMOAS" RELATED ABBREVIATION [OMIM:618733] xref: OMIM:618733 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIM:618733"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618733 [Term] id: MONDO:0032891 name: aneurysm, intracranial berry, 12 synonym: "ANEURYSM, INTRACRANIAL BERRY, 12" RELATED [OMIM:618734] synonym: "ANIB12" RELATED ABBREVIATION [OMIM:618734] xref: DOID:0080975 {source="MONDO:equivalentTo"} xref: OMIM:618734 {source="MONDO:equivalentTo"} is_a: MONDO:0016483 {source="OMIM:618734"} ! intracranial berry aneurysm property_value: exactMatch DOID:0080975 property_value: exactMatch https://omim.org/entry/618734 [Term] id: MONDO:0032892 name: structural brain anomalies with impaired intellectual development and craniosynostosis synonym: "BAIDCS" RELATED ABBREVIATION [OMIM:618736] synonym: "STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS" RELATED [OMIM:618736] xref: OMIM:618736 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIM:618736"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618736 [Term] id: MONDO:0032893 name: pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures synonym: "PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES" RELATED [OMIM:618737] synonym: "PAMDDFS" RELATED ABBREVIATION [OMIM:618737] xref: DOID:0081266 {source="MONDO:equivalentTo"} xref: OMIM:618737 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIM:618737"} ! genetic disorder property_value: exactMatch DOID:0081266 property_value: exactMatch https://omim.org/entry/618737 [Term] id: MONDO:0032894 name: neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy synonym: "NEDESBA" RELATED ABBREVIATION [OMIM:618741] synonym: "NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY" RELATED [OMIM:618741] xref: OMIM:618741 {source="MONDO:equivalentTo"} is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch https://omim.org/entry/618741 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0032895 name: developmental and epileptic encephalopathy, 83 synonym: "Barakat-Perenthaler Syndrome" RELATED [OMIM:618744] synonym: "DEE83" EXACT ABBREVIATION [OMIM:618744] synonym: "developmental and epileptic encephalopathy 83" EXACT [OMIM:618744, OMIM:genemap2] synonym: "EIEE83" EXACT ABBREVIATION [OMIM:618744] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 83" EXACT [OMIM:618744] synonym: "epileptic encephalopathy, early infantile, 83" EXACT [OMIM:618744] xref: DOID:0112218 {source="MONDO:equivalentTo"} xref: OMIM:618744 {source="MONDO:equivalentTo"} is_a: MONDO:0100062 {source="OMIM:618744"} ! developmental and epileptic encephalopathy property_value: exactMatch DOID:0112218 property_value: exactMatch https://omim.org/entry/618744 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0032896 name: spermatogenic failure 42 synonym: "SPERMATOGENIC FAILURE 42" RELATED [OMIM:618745] synonym: "SPGF42" RELATED ABBREVIATION [OMIM:618745] xref: DOID:0111923 {source="MONDO:equivalentTo"} xref: OMIM:618745 {source="MONDO:equivalentTo"} is_a: EFO:0000279 {source="OMIM:618745"} ! azoospermia property_value: exactMatch DOID:0111923 property_value: exactMatch https://omim.org/entry/618745 [Term] id: MONDO:0032897 name: intellectual developmental disorder with hypotonia and behavioral abnormalities synonym: "IDDHBA" RELATED ABBREVIATION [OMIM:618748] synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES" RELATED [OMIM:618748] xref: OMIM:618748 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIM:618748"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618748 [Term] id: MONDO:0032898 name: spermatogenic failure 43 synonym: "SPERMATOGENIC FAILURE 43" RELATED [OMIM:618751] synonym: "SPGF43" RELATED ABBREVIATION [OMIM:618751] xref: DOID:0111917 {source="MONDO:equivalentTo"} xref: OMIM:618751 {source="MONDO:equivalentTo"} is_a: EFO:0000279 {source="OMIM:618751"} ! azoospermia property_value: exactMatch DOID:0111917 property_value: exactMatch https://omim.org/entry/618751 [Term] id: MONDO:0032899 name: neutropenia, severe congenital, 8, autosomal dominant synonym: "NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT" RELATED [OMIM:618752] synonym: "Neutropenia, Severe Congenital, 8, Autosomal Dominant, With or Without Pancreatic Dysfunction And/Or Neurologic Abnormalities" RELATED [OMIM:618752] synonym: "SCN8" RELATED ABBREVIATION [OMIM:618752] synonym: "Shwachman-Diamond Syndrome-Like" RELATED [OMIM:618752] xref: DOID:0112135 {source="MONDO:equivalentTo"} xref: OMIM:618752 {source="MONDO:equivalentTo"} is_a: MONDO:0018542 {source="OMIM:618752"} ! severe congenital neutropenia property_value: exactMatch DOID:0112135 property_value: exactMatch https://omim.org/entry/618752 [Term] id: MONDO:0032900 name: neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements synonym: "NEDHAHM" RELATED ABBREVIATION [OMIM:618760] synonym: "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS" RELATED [OMIM:618760] xref: OMIM:618760 {source="MONDO:equivalentTo"} is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch https://omim.org/entry/618760 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0032901 name: Catifa syndrome synonym: "CATIFA" RELATED ABBREVIATION [OMIM:618761] synonym: "CATIFA SYNDROME" RELATED [OMIM:618761] synonym: "Cleft Lip, Cataract, Tooth Abnormality, Impaired Intellectual Development, Facial Dysmorphism, and Attention-Deficit Hyperactivity Disorder" RELATED [OMIM:618761] xref: OMIM:618761 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIM:618761"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618761 [Term] id: MONDO:0032902 name: Joubert syndrome 36 synonym: "JBTS36" RELATED ABBREVIATION [OMIM:618763] synonym: "JOUBERT SYNDROME 36" RELATED [OMIM:618763] xref: OMIM:618763 {source="MONDO:equivalentTo"} is_a: MONDO:0018772 {source="OMIM:618763"} ! Joubert syndrome property_value: exactMatch https://omim.org/entry/618763 [Term] id: MONDO:0032903 name: arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum synonym: "AMCNACC" EXACT ABBREVIATION [OMIM:618766] synonym: "arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum" EXACT [OMIM:618766] synonym: "Zain Syndrome" RELATED [OMIM:618766] xref: DOID:0080980 {source="MONDO:equivalentTo"} xref: OMIM:618766 {source="MONDO:equivalentTo"} is_a: MONDO:0015168 {source="OMIM:618766"} ! arthrogryposis multiplex congenita property_value: exactMatch DOID:0080980 property_value: exactMatch https://omim.org/entry/618766 [Term] id: MONDO:0032904 name: corneal dystrophy, Meesmann, 2 synonym: "CORNEAL DYSTROPHY, MEESMANN, 2" RELATED [OMIM:618767] synonym: "MECD2" RELATED ABBREVIATION [OMIM:618767] synonym: "meesmann corneal dystrophy 2" EXACT [OMIM:618767, OMIM:genemap2] xref: DOID:0080671 {source="MONDO:equivalentTo"} xref: OMIM:618767 {source="MONDO:equivalentTo"} is_a: MONDO:0007379 {source="OMIM:618767"} ! Meesmann corneal dystrophy property_value: exactMatch DOID:0080671 property_value: exactMatch https://omim.org/entry/618767 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0032905 name: spastic paraplegia 81, autosomal recessive synonym: "SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE" RELATED [OMIM:618768] synonym: "SPG81" RELATED ABBREVIATION [OMIM:618768] xref: OMIM:618768 {source="MONDO:equivalentTo"} is_a: MONDO:0019064 {source="OMIM:618768"} ! hereditary spastic paraplegia property_value: exactMatch https://omim.org/entry/618768 [Term] id: MONDO:0032906 name: spastic paraplegia 82, autosomal recessive synonym: "SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE" RELATED [OMIM:618770] synonym: "SPG82" RELATED ABBREVIATION [OMIM:618770] xref: DOID:0112343 {source="MONDO:equivalentTo"} xref: OMIM:618770 {source="MONDO:equivalentTo"} is_a: MONDO:0019064 {source="OMIM:618770"} ! hereditary spastic paraplegia property_value: exactMatch DOID:0112343 property_value: exactMatch https://omim.org/entry/618770 [Term] id: MONDO:0032907 name: lymphatic malformation 8 synonym: "LMPHM8" RELATED ABBREVIATION [OMIM:618773] synonym: "LYMPHATIC MALFORMATION 8" RELATED [OMIM:618773] xref: OMIM:618773 {source="MONDO:equivalentTo"} is_a: MONDO:0019313 {source="OMIM:618773"} ! lymphatic malformation property_value: exactMatch https://omim.org/entry/618773 [Term] id: MONDO:0032908 name: CEBALID syndrome synonym: "CEBALID" RELATED ABBREVIATION [OMIM:618774] synonym: "CEBALID SYNDROME" RELATED [OMIM:618774] synonym: "Craniofacial Defects, Dysmorphic Ears, Structural Brain Abnormalities, Expressive Language Delay, and Impaired Intellectual Development" RELATED [OMIM:618774] synonym: "MCTT" EXACT ABBREVIATION [https://rarediseases.org/rare-diseases/mn1-c-terminal-truncation-syndrome/] synonym: "MN1 C-terminal truncation syndrome" EXACT [https://rarediseases.org/rare-diseases/mn1-c-terminal-truncation-syndrome/] xref: OMIM:618774 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIM:618774"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618774 [Term] id: MONDO:0032909 name: mitochondrial complex 3 deficiency, nuclear type 10 synonym: "MC3DN10" RELATED ABBREVIATION [OMIM:618775] synonym: "MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10" RELATED [OMIM:618775] xref: OMIM:618775 {source="MONDO:equivalentTo"} is_a: MONDO:0020811 {source="OMIM:618775"} ! mitochondrial complex III deficiency, nuclear type property_value: exactMatch https://omim.org/entry/618775 [Term] id: MONDO:0032910 name: mitochondrial complex 1 deficiency, nuclear type 34 synonym: "MC1DN34" RELATED ABBREVIATION [OMIM:618776] synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34" RELATED [OMIM:618776] xref: DOID:0112091 {source="MONDO:equivalentTo"} xref: OMIM:618776 {source="MONDO:equivalentTo"} is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type property_value: exactMatch DOID:0112091 property_value: exactMatch https://omim.org/entry/618776 [Term] id: MONDO:0032911 name: hearing loss, autosomal dominant 75 synonym: "DEAFNESS, AUTOSOMAL DOMINANT 75" NARROW [OMIM:618778] synonym: "deafness, autosomal dominant 75" NARROW [OMIM:618778, OMIM:genemap2] synonym: "DFNA75" NARROW ABBREVIATION [OMIM:618778] xref: DOID:0112166 {source="MONDO:equivalentTo"} xref: OMIM:618778 {source="MONDO:equivalentTo"} is_a: MONDO:0019587 {source="OMIM:618778"} ! autosomal dominant nonsyndromic hearing loss property_value: exactMatch DOID:0112166 property_value: exactMatch https://omim.org/entry/618778 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/551 xsd:anyURI [Term] id: MONDO:0032912 name: Coffin-Siris syndrome 11 synonym: "COFFIN-SIRIS SYNDROME 11" RELATED [OMIM:618779] synonym: "CSS11" RELATED ABBREVIATION [OMIM:618779] xref: DOID:0112372 {source="MONDO:equivalentTo"} xref: OMIM:618779 {source="MONDO:equivalentTo"} is_a: MONDO:0015452 {source="OMIM:618779"} ! Coffin-Siris syndrome property_value: exactMatch DOID:0112372 property_value: exactMatch https://omim.org/entry/618779 [Term] id: MONDO:0032913 name: congenital heart defects, multiple types, 7 synonym: "CHTD7" RELATED ABBREVIATION [OMIM:618780] synonym: "CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7" RELATED [OMIM:618780] xref: OMIM:618780 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIM:618780"} ! genetic disorder relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch https://omim.org/entry/618780 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0032914 name: ciliary dyskinesia, primary, 44 synonym: "CILD44" RELATED ABBREVIATION [OMIM:618781] synonym: "CILIARY DYSKINESIA, PRIMARY, 44" RELATED [OMIM:618781] synonym: "Ciliary Dyskinesia, Primary, 44, Without Situs Inversus" RELATED [OMIM:618781] xref: DOID:0111851 {source="MONDO:equivalentTo"} xref: OMIM:618781 {source="MONDO:equivalentTo"} is_a: MONDO:0016575 {source="OMIM:618781"} ! primary ciliary dyskinesia property_value: exactMatch DOID:0111851 property_value: exactMatch https://omim.org/entry/618781 [Term] id: MONDO:0032915 name: long QT syndrome 16 synonym: "long QT syndrome 16" EXACT [OMIM:618782] synonym: "LQT16" RELATED ABBREVIATION [OMIM:618782] synonym: "Ventricular Tachycardia, Catecholaminergic Polymorphic 6" RELATED [OMIM:618782] xref: OMIM:618782 {source="MONDO:equivalentTo"} is_a: MONDO:0017990 {source="OMIM:618782"} ! catecholaminergic polymorphic ventricular tachycardia is_a: MONDO:0019171 {source="OMIM:618782"} ! familial long QT syndrome property_value: exactMatch https://omim.org/entry/618782 [Term] id: MONDO:0032916 name: Imagawa-Matsumoto syndrome synonym: "IMAGAWA-MATSUMOTO SYNDROME" RELATED [OMIM:618786] synonym: "IMMAS" RELATED ABBREVIATION [OMIM:618786] xref: OMIM:618786 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIM:618786"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618786 [Term] id: MONDO:0032917 name: hearing loss, autosomal dominant 76 synonym: "DEAFNESS, AUTOSOMAL DOMINANT 76" NARROW [OMIM:618787] synonym: "deafness, autosomal dominant 76" NARROW [OMIM:618787, OMIM:genemap2] synonym: "DFNA76" NARROW ABBREVIATION [OMIM:618787] xref: DOID:0112167 {source="MONDO:equivalentTo"} xref: OMIM:618787 {source="MONDO:equivalentTo"} is_a: MONDO:0019587 {source="OMIM:618787"} ! autosomal dominant nonsyndromic hearing loss property_value: exactMatch DOID:0112167 property_value: exactMatch https://omim.org/entry/618787 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/551 xsd:anyURI [Term] id: MONDO:0032918 name: developmental and epileptic encephalopathy, 84 synonym: "DEE84" EXACT ABBREVIATION [OMIM:618792] synonym: "developmental and epileptic encephalopathy 84" EXACT [OMIM:618792, OMIM:genemap2] synonym: "EIEE84" EXACT ABBREVIATION [OMIM:618792] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 84" EXACT [OMIM:618792] synonym: "epileptic encephalopathy, early infantile, 84" EXACT [OMIM:618792] synonym: "Jamuar Syndrome" RELATED [OMIM:618792] xref: DOID:0112219 {source="MONDO:equivalentTo"} xref: OMIM:618792 {source="MONDO:equivalentTo"} is_a: MONDO:0100062 {source="OMIM:618792"} ! developmental and epileptic encephalopathy property_value: exactMatch DOID:0112219 property_value: exactMatch https://omim.org/entry/618792 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0032919 name: intellectual developmental disorder 62 synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER 62" RELATED [OMIM:618793] synonym: "Mental Retardation, Autosomal Dominant 62" RELATED [OMIM:618793] synonym: "MRD62" RELATED ABBREVIATION [OMIM:618793] xref: OMIM:618793 {source="MONDO:equivalentTo"} is_a: MONDO:0015802 {source="OMIM:618793"} ! autosomal dominant non-syndromic intellectual disability property_value: exactMatch https://omim.org/entry/618793 [Term] id: MONDO:0032920 name: juvenile arthritis due to defect in LACC1 synonym: "JUVAR" RELATED ABBREVIATION [OMIM:618795] synonym: "JUVENILE ARTHRITIS" RELATED [OMIM:618795] xref: OMIM:618795 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIM:618795"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618795 [Term] id: MONDO:0032921 name: neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation synonym: "NEDHRIT" RELATED ABBREVIATION [OMIM:618797] synonym: "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION" RELATED [OMIM:618797] xref: OMIM:618797 {source="MONDO:equivalentTo"} is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch https://omim.org/entry/618797 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0032922 name: Beck-Fahrner syndrome synonym: "BECK-FAHRNER SYNDROME" RELATED [OMIM:618798] synonym: "BEFAHRS" RELATED ABBREVIATION [OMIM:618798] xref: OMIM:618798 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIM:618798"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618798 [Term] id: MONDO:0032923 name: spinocerebellar ataxia, autosomal recessive 28 synonym: "SCAR28" RELATED ABBREVIATION [OMIM:618800] synonym: "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28" RELATED [OMIM:618800] xref: DOID:0070409 {source="MONDO:equivalentTo"} xref: OMIM:618800 {source="MONDO:equivalentTo"} is_a: MONDO:0015244 {source="OMIM:618800"} ! autosomal recessive cerebellar ataxia property_value: exactMatch DOID:0070409 property_value: exactMatch https://omim.org/entry/618800 [Term] id: MONDO:0032924 name: ciliary dyskinesia, primary, 45 synonym: "CILD45" RELATED ABBREVIATION [OMIM:618801] synonym: "CILIARY DYSKINESIA, PRIMARY, 45" RELATED [OMIM:618801] synonym: "Ciliary Dyskinesia, Primary, 45, Without Situs Inversus" RELATED [OMIM:618801] xref: DOID:0111857 {source="MONDO:equivalentTo"} xref: OMIM:618801 {source="MONDO:equivalentTo"} is_a: MONDO:0016575 {source="OMIM:618801"} ! primary ciliary dyskinesia property_value: exactMatch DOID:0111857 property_value: exactMatch https://omim.org/entry/618801 [Term] id: MONDO:0032925 name: respiratory papillomatosis, juvenile recurrent, congenital synonym: "JRRP" RELATED ABBREVIATION [OMIM:618803] synonym: "RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL" RELATED [OMIM:618803] xref: OMIM:618803 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIM:618803"} ! genetic disorder relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch https://omim.org/entry/618803 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0032926 name: sandestig-stefanova syndrome synonym: "SANDESTIG-STEFANOVA SYNDROME" RELATED [OMIM:618804] synonym: "SANDSTEF" RELATED ABBREVIATION [OMIM:618804] xref: DOID:0081272 {source="MONDO:equivalentTo"} xref: OMIM:618804 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIM:618804"} ! genetic disorder property_value: exactMatch DOID:0081272 property_value: exactMatch https://omim.org/entry/618804 [Term] id: MONDO:0032927 name: triokinase and FMN cyclase deficiency syndrome synonym: "TKFCD" RELATED ABBREVIATION [OMIM:618805] synonym: "TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME" RELATED [OMIM:618805] xref: OMIM:618805 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIM:618805"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618805 [Term] id: MONDO:0032928 name: T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant synonym: "T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT" RELATED [OMIM:618806] synonym: "TLIND" RELATED ABBREVIATION [OMIM:618806] xref: OMIM:618806 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIM:618806"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618806 [Term] id: MONDO:0032930 name: intellectual developmental disorder with poor growth and with or without seizures or ataxia synonym: "IDPOGSA" RELATED ABBREVIATION [OMIM:618808] synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA" RELATED [OMIM:618808] xref: OMIM:618808 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIM:618808"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618808 [Term] id: MONDO:0032931 name: pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal subset: ordo_disorder synonym: "Chromosome 1P36.33 Deletion Syndrome, Atad3 Gene Cluster, Autosomal Recessive" RELATED [OMIM:618810] synonym: "fatal pontocerebellar hypoplasia-hypotonia-respiratory distress syndrome" EXACT [Orphanet:615954] synonym: "fatal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome" EXACT [Orphanet:615954] synonym: "PHRINL" RELATED ABBREVIATION [OMIM:618810] synonym: "Phrinl Syndrome" RELATED [OMIM:618810] synonym: "PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL" RELATED [OMIM:618810] xref: OMIM:618810 {source="MONDO:equivalentTo"} xref: Orphanet:615954 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIM:618810"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618810 property_value: exactMatch Orphanet:615954 [Term] id: MONDO:0032932 name: mitochondrial DNA depletion syndrome 18 synonym: "MITOCHONDRIAL DNA DEPLETION SYNDROME 18" RELATED [OMIM:618811] synonym: "MTDPS18" RELATED ABBREVIATION [OMIM:618811] xref: OMIM:618811 {source="MONDO:equivalentTo"} is_a: MONDO:0018158 {source="OMIM:618811"} ! mitochondrial DNA depletion syndrome property_value: exactMatch https://omim.org/entry/618811 [Term] id: MONDO:0032934 name: genitourinary and/or brain malformation syndrome synonym: "GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME" RELATED [OMIM:618820] synonym: "genitourinary and/or brain malformation syndrome" EXACT [] synonym: "genitourinary and/or/brain malformation syndrome" EXACT [OMIM:618820, OMIM:genemap2] synonym: "GUBS" RELATED ABBREVIATION [OMIM:618820] xref: OMIM:618820 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIM:618820"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618820 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0032935 name: rhizomelic limb shortening with dysmorphic features synonym: "RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES" RELATED [OMIM:618821] synonym: "RLSDF" RELATED ABBREVIATION [OMIM:618821] xref: OMIM:618821 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIM:618821"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618821 [Term] id: MONDO:0032936 name: myopathy, congenital, with respiratory insufficiency and bone fractures synonym: "MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES" RELATED [OMIM:618822] synonym: "MYORIBF" RELATED ABBREVIATION [OMIM:618822] xref: DOID:0081343 {source="MONDO:equivalentTo"} xref: OMIM:618822 {source="MONDO:equivalentTo"} is_a: MONDO:0019952 {source="OMIM:618822"} ! congenital myopathy property_value: exactMatch DOID:0081343 property_value: exactMatch https://omim.org/entry/618822 [Term] id: MONDO:0032937 name: myopathy, congenital proximal, with minicore lesions synonym: "MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS" RELATED [OMIM:618823] synonym: "MYOPMIL" RELATED ABBREVIATION [OMIM:618823] xref: DOID:0081344 {source="MONDO:equivalentTo"} xref: OMIM:618823 {source="MONDO:equivalentTo"} is_a: MONDO:0019952 {source="OMIM:618823"} ! congenital myopathy property_value: exactMatch DOID:0081344 property_value: exactMatch https://omim.org/entry/618823 [Term] id: MONDO:0032938 name: basal ganglia calcification, idiopathic, 8, autosomal recessive synonym: "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE" RELATED [OMIM:618824] synonym: "IBGC8" RELATED ABBREVIATION [OMIM:618824] xref: OMIM:618824 {source="MONDO:equivalentTo"} is_a: MONDO:0008947 {source="OMIM:618824"} ! bilateral striopallidodentate calcinosis is_a: MONDO:0700007 ! idiopathic disease property_value: exactMatch https://omim.org/entry/618824 [Term] id: MONDO:0032939 name: intellectual developmental disorder, autosomal dominant 63, with macrocephaly synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY" RELATED [OMIM:618825] synonym: "Mental Retardation, Autosomal Dominant 63, With Macrocephaly" RELATED [OMIM:618825] synonym: "MRD63" RELATED ABBREVIATION [OMIM:618825] xref: OMIM:618825 {source="MONDO:equivalentTo"} is_a: MONDO:0015802 {source="OMIM:618825"} ! autosomal dominant non-syndromic intellectual disability property_value: exactMatch https://omim.org/entry/618825 [Term] id: MONDO:0032940 name: retinitis pigmentosa 88 synonym: "RETINITIS PIGMENTOSA 88" RELATED [OMIM:618826] synonym: "RP88" RELATED ABBREVIATION [OMIM:618826] xref: DOID:0112145 {source="MONDO:equivalentTo"} xref: OMIM:618826 {source="MONDO:equivalentTo"} is_a: MONDO:0019200 {source="OMIM:618826"} ! retinitis pigmentosa property_value: exactMatch DOID:0112145 property_value: exactMatch https://omim.org/entry/618826 [Term] id: MONDO:0032941 name: myopia 27 synonym: "MYOPIA 27" RELATED [OMIM:618827] synonym: "MYP27" RELATED ABBREVIATION [OMIM:618827] xref: OMIM:618827 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0004892 ! refractive error property_value: exactMatch https://omim.org/entry/618827 [Term] id: MONDO:0032942 name: neurodevelopmental disorder with microcephaly and dysmorphic facies synonym: "nabais sa-de vries syndrome, type 1" EXACT [OMIM:618828, OMIM:genemap2] synonym: "NEDMIDF" RELATED ABBREVIATION [OMIM:618828] synonym: "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND DYSMORPHIC FACIES" RELATED [OMIM:618828] xref: OMIM:618828 {source="MONDO:equivalentTo"} is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch https://omim.org/entry/618828 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0032943 name: neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies synonym: "nabais sa-de vries syndrome, type 2" EXACT [OMIM:618829, OMIM:genemap2] synonym: "NEDMACE" RELATED ABBREVIATION [OMIM:618829] synonym: "NEURODEVELOPMENTAL DISORDER WITH RELATIVE MACROCEPHALY AND WITH OR WITHOUT CARDIAC OR ENDOCRINE ANOMALIES" RELATED [OMIM:618829] xref: OMIM:618829 {source="MONDO:equivalentTo"} is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch https://omim.org/entry/618829 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0033006 name: Galloway-Mowat syndrome 2, X-linked synonym: "Galloway-Mowat syndrome 2" RELATED [DOID:0080244] synonym: "Galloway-Mowat syndrome 2, X-linked" EXACT [OMIM:301006] synonym: "Galloway-Mowat syndrome 2, X-linked, X-linked recessive" EXACT [OMIM:301006, OMIM:genemap2] synonym: "GAMOS2" RELATED ABBREVIATION [OMIM:301006] xref: DOID:0080244 {source="MONDO:equivalentTo"} xref: OMIM:301006 {source="DOID:0080244", source="MONDO:equivalentTo"} xref: UMLS:CN570502 {source="MONDO:equivalentTo"} is_a: MONDO:0009627 {source="DOID:0080244", source="OMIM:301006"} ! Galloway-Mowat syndrome property_value: exactMatch DOID:0080244 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN570502 property_value: exactMatch https://omim.org/entry/301006 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0033014 name: erythrokeratodermia variabilis et progressiva 4 synonym: "EKVP4" RELATED ABBREVIATION [OMIM:617526] synonym: "erythrokeratodermia variabilis ET progressiva 4" RELATED [OMIM:617526] synonym: "erythrokeratodermia variabilis et progressiva 4" EXACT [] xref: DOID:0080250 {source="MONDO:equivalentTo"} xref: OMIM:617526 {source="DOID:0080250", source="MONDO:equivalentTo"} xref: UMLS:C4479620 {source="OMIM:617526", source="MONDO:equivalentTo"} is_a: MONDO:0017851 {source="DOID:0080250", source="OMIM:617526"} ! erythrokeratodermia variabilis property_value: exactMatch DOID:0080250 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479620 property_value: exactMatch https://omim.org/entry/617526 [Term] id: MONDO:0033043 name: spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy subset: ordo_disease synonym: "spastic ataxia 8" RELATED [DOID:0080252] synonym: "spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy" EXACT [OMIM:617560] synonym: "SPAX8" RELATED ABBREVIATION [OMIM:617560] xref: DOID:0080252 {source="MONDO:equivalentTo"} xref: OMIM:617560 {source="DOID:0080252", source="MONDO:equivalentTo", source="Orphanet:527497"} xref: Orphanet:527497 {source="MONDO:equivalentTo"} xref: UMLS:C4479653 {source="MONDO:equivalentTo", source="OMIM:617560"} is_a: MONDO:0017847 {source="Orphanet:527497"} ! autosomal recessive spastic ataxia is_a: MONDO:0019046 {source="Orphanet:527497"} ! leukodystrophy property_value: exactMatch DOID:0080252 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479653 property_value: exactMatch https://omim.org/entry/617560 property_value: exactMatch Orphanet:527497 [Term] id: MONDO:0033201 name: hearing loss, autosomal recessive 57 synonym: "deafness, autosomal recessive 57" NARROW [OMIM:618003, OMIM:genemap2] synonym: "DFNB57" NARROW ABBREVIATION [OMIM:618003] xref: DOID:0111635 {source="MONDO:equivalentTo"} xref: OMIM:618003 {source="MONDO:equivalentTo"} xref: UMLS:CN248511 {source="MONDO:equivalentTo"} is_a: MONDO:0019588 {source="OMIM:618003"} ! hearing loss, autosomal recessive property_value: exactMatch DOID:0111635 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN248511 property_value: exactMatch https://omim.org/entry/618003 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/551 xsd:anyURI [Term] id: MONDO:0033204 name: ciliary dyskinesia, primary, 37 synonym: "CILD37" RELATED ABBREVIATION [OMIM:617577] synonym: "ciliary dyskinesia, primary, 37" EXACT [OMIM:617577] synonym: "ciliary dyskinesia, primary, 37, with or without situs inversus" RELATED [OMIM:617577] synonym: "primary ciliary dyskinesia 37" RELATED [DOID:0080266] xref: DOID:0080266 {source="MONDO:equivalentTo"} xref: OMIM:617577 {source="DOID:0080266", source="MONDO:equivalentTo"} is_a: MONDO:0016575 {source="DOID:0080266", source="OMIM:617577"} ! primary ciliary dyskinesia property_value: exactMatch DOID:0080266 property_value: exactMatch https://omim.org/entry/617577 [Term] id: MONDO:0033352 name: neuropathy, congenital hypomelinating synonym: "CHN" EXACT ABBREVIATION [MONDO:cjm] xref: OMIMPS:605253 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0020127 {source="MONDO:cjm"} ! hereditary peripheral neuropathy property_value: exactMatch https://omim.org/phenotypicSeries/PS605253 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0033361 name: developmental and epileptic encephalopathy, 52 synonym: "DEE52" EXACT ABBREVIATION [OMIM:617350] synonym: "developmental and epileptic encephalopathy 52" EXACT [OMIM:617350, OMIM:genemap2] synonym: "EIEE52" EXACT ABBREVIATION [OMIM:617350] synonym: "epileptic encephalopathy, early infantile, 52" EXACT [OMIM:617350] xref: DOID:0080455 {source="MONDO:equivalentTo"} xref: OMIM:617350 {source="MONDO:equivalentTo"} xref: UMLS:C4479236 {source="MONDO:equivalentTo", source="OMIM:617350"} is_a: MONDO:0100062 {source="OMIM:617350"} ! developmental and epileptic encephalopathy property_value: exactMatch DOID:0080455 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479236 property_value: exactMatch https://omim.org/entry/617350 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0033363 name: developmental and epileptic encephalopathy, 54 synonym: "DEE54" EXACT ABBREVIATION [OMIM:617391] synonym: "developmental and epileptic encephalopathy 54" EXACT [OMIM:617391, OMIM:genemap2] synonym: "EIEE54" EXACT ABBREVIATION [OMIM:617391] synonym: "epileptic encephalopathy, early infantile, 54" EXACT [OMIM:617391] xref: DOID:0080418 {source="MONDO:equivalentTo"} xref: OMIM:617391 {source="MONDO:equivalentTo"} xref: UMLS:C4479319 {source="MONDO:equivalentTo", source="OMIM:617391"} is_a: MONDO:0100062 {source="OMIM:617391"} ! developmental and epileptic encephalopathy property_value: exactMatch DOID:0080418 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479319 property_value: exactMatch https://omim.org/entry/617391 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0033374 name: developmental and epileptic encephalopathy, 65 synonym: "DEE65" EXACT ABBREVIATION [OMIM:618008] synonym: "developmental and epileptic encephalopathy 65" EXACT [OMIM:618008, OMIM:genemap2] synonym: "EIEE65" EXACT ABBREVIATION [OMIM:618008] synonym: "epileptic encephalopathy, early infantile, 65" EXACT [OMIM:618008] xref: DOID:0080430 {source="MONDO:equivalentTo"} xref: OMIM:618008 {source="MONDO:equivalentTo"} xref: UMLS:CN248516 {source="MONDO:equivalentTo"} is_a: MONDO:0100062 {source="OMIM:618008"} ! developmental and epileptic encephalopathy property_value: exactMatch DOID:0080430 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN248516 property_value: exactMatch https://omim.org/entry/618008 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0033482 name: spinocerebellar ataxia 47 def: "A rare hereditary ataxia characterized by adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, dysarthria, and in some cases diplopia. Cognitive functions are normal, and seizures are absent. Magnetic resonance imaging reveals mild atrophy of the cerebellar vermis." [Orphanet:642747] synonym: "PUM1-related cerebellar ataxia" EXACT [Orphanet:642747] synonym: "SCA47" RELATED ABBREVIATION [OMIM:617931] synonym: "spinocerebellar ataxia 47" EXACT [OMIM:617931] xref: DOID:0111743 {source="MONDO:equivalentTo"} xref: OMIM:617931 {source="MONDO:equivalentTo"} xref: Orphanet:642747 {source="MONDO:equivalentTo"} xref: UMLS:CN244564 {source="MONDO:equivalentTo"} is_a: MONDO:0020380 {source="OMIM:617931"} ! autosomal dominant cerebellar ataxia property_value: exactMatch DOID:0111743 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244564 property_value: exactMatch https://omim.org/entry/617931 property_value: exactMatch Orphanet:642747 [Term] id: MONDO:0033532 name: Suleiman-El-Hattab syndrome synonym: "SULEHS" RELATED ABBREVIATION [OMIM:618950] synonym: "SULEIMAN-EL-HATTAB SYNDROME" RELATED [OMIM:618950] xref: OMIM:618950 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618950 [Term] id: MONDO:0033533 name: combined oxidative phosphorylation deficiency 45 synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45" RELATED [OMIM:618951] synonym: "COXPD45" RELATED ABBREVIATION [OMIM:618951] xref: DOID:0112113 {source="MONDO:equivalentTo"} xref: OMIM:618951 {source="MONDO:equivalentTo"} is_a: MONDO:0000732 {source="OMIM:618951"} ! combined oxidative phosphorylation deficiency property_value: exactMatch DOID:0112113 property_value: exactMatch https://omim.org/entry/618951 [Term] id: MONDO:0033534 name: combined oxidative phosphorylation deficiency 46 synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46" RELATED [OMIM:618952] synonym: "combined oxidative phosphorylation defiency 46" EXACT [OMIM:618952, OMIM:genemap2] synonym: "COXPD46" RELATED ABBREVIATION [OMIM:618952] xref: DOID:0112115 {source="MONDO:equivalentTo"} xref: OMIM:618952 {source="MONDO:equivalentTo"} is_a: MONDO:0000732 {source="OMIM:618952"} ! combined oxidative phosphorylation deficiency property_value: exactMatch DOID:0112115 property_value: exactMatch https://omim.org/entry/618952 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0033537 name: combined oxidative phosphorylation deficiency 47 synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47" RELATED [OMIM:618958] synonym: "COXPD47" RELATED ABBREVIATION [OMIM:618958] xref: DOID:0112114 {source="MONDO:equivalentTo"} xref: OMIM:618958 {source="MONDO:equivalentTo"} is_a: MONDO:0000732 {source="OMIM:618958"} ! combined oxidative phosphorylation deficiency property_value: exactMatch DOID:0112114 property_value: exactMatch https://omim.org/entry/618958 [Term] id: MONDO:0033541 name: immunodeficiency 69 synonym: "Ifng Deficiency, Autosomal Recessive" RELATED [OMIM:618963] synonym: "IMD69" RELATED ABBREVIATION [OMIM:618963] synonym: "IMMUNODEFICIENCY 69" RELATED [OMIM:618963] synonym: "immunodeficiency 69, mycobacteriosis" EXACT [OMIM:618963, OMIM:genemap2] synonym: "Immunodeficiency 69, Mycobacteriosis, Autosomal Recessive" RELATED [OMIM:618963] xref: DOID:0112006 {source="MONDO:equivalentTo"} xref: OMIM:618963 {source="MONDO:equivalentTo"} is_a: MONDO:0021094 {source="OMIM:618963"} ! immunodeficiency disease property_value: exactMatch DOID:0112006 property_value: exactMatch https://omim.org/entry/618963 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0033542 name: immunodeficiency 70 synonym: "IMD70" RELATED ABBREVIATION [OMIM:618969] synonym: "IMMUNODEFICIENCY 70" RELATED [OMIM:618969] xref: DOID:0112005 {source="MONDO:equivalentTo"} xref: OMIM:618969 {source="MONDO:equivalentTo"} is_a: MONDO:0021094 {source="OMIM:618969"} ! immunodeficiency disease property_value: exactMatch DOID:0112005 property_value: exactMatch https://omim.org/entry/618969 [Term] id: MONDO:0033543 name: cone-rod synaptic disorder syndrome, congenital nonprogressive synonym: "CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE" RELATED [OMIM:618970] synonym: "CRSDS" RELATED ABBREVIATION [OMIM:618970] xref: OMIM:618970 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch https://omim.org/entry/618970 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0033544 name: Tolchin-Le Caignec syndrome synonym: "intellectual developmental disorder With behavioral abnormalities and variable bone defects" RELATED [OMIM:618971] synonym: "intellectual developmental disorder With behavioural abnormalities and variable bone defects" RELATED OMO:0003005 [] synonym: "TOLCAS" RELATED ABBREVIATION [OMIM:618971] synonym: "TOLCHIN-LE CAIGNEC SYNDROME" RELATED [OMIM:618971] xref: OMIM:618971 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618971 [Term] id: MONDO:0033545 name: mitochondrial DNA depletion syndrome 19 synonym: "MITOCHONDRIAL DNA DEPLETION SYNDROME 19" RELATED [OMIM:618972] synonym: "MTDPS19" RELATED ABBREVIATION [OMIM:618972] xref: OMIM:618972 {source="MONDO:equivalentTo"} is_a: MONDO:0018158 {source="OMIM:618972"} ! mitochondrial DNA depletion syndrome property_value: exactMatch https://omim.org/entry/618972 [Term] id: MONDO:0033546 name: neurodegeneration, infantile-onset, biotin-responsive synonym: "NERIB" RELATED ABBREVIATION [OMIM:618973] synonym: "NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE" RELATED [OMIM:618973] synonym: "Smvt Deficiency" RELATED [OMIM:618973] synonym: "Sodium-Dependent Multivitamin Transporter Deficiency" RELATED [OMIM:618973] xref: OMIM:618973 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618973 [Term] id: MONDO:0033547 name: Li-Ghorbani-Weisz-Hubshman syndrome synonym: "LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME" RELATED [OMIM:618974] synonym: "Li-Ghorgani-Weisz-Hubshman syndrome" EXACT [OMIM:618974, OMIM:genemap2] synonym: "LIGOWS" RELATED ABBREVIATION [OMIM:618974] xref: OMIM:618974 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618974 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0033548 name: myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies synonym: "MYODRIF" RELATED ABBREVIATION [OMIM:618975] synonym: "Myopathy, Congenital, Due to Myod1 Deficiency" RELATED [OMIM:618975] synonym: "MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES" RELATED [OMIM:618975] xref: DOID:0081349 {source="MONDO:equivalentTo"} xref: OMIM:618975 {source="MONDO:equivalentTo"} is_a: MONDO:0019952 {source="OMIM:618975"} ! congenital myopathy property_value: exactMatch DOID:0081349 property_value: exactMatch https://omim.org/entry/618975 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0033549 name: optic atrophy 12 synonym: "OPA12" RELATED ABBREVIATION [OMIM:618977] synonym: "OPTIC ATROPHY 12" RELATED [OMIM:618977] xref: DOID:0080840 {source="MONDO:equivalentTo"} xref: OMIM:618977 {source="MONDO:equivalentTo"} is_a: MONDO:0043878 {source="OMIM:618977"} ! hereditary optic atrophy property_value: exactMatch DOID:0080840 property_value: exactMatch https://omim.org/entry/618977 [Term] id: MONDO:0033551 name: immunodeficiency 72 with autoinflammation synonym: "IMD72" RELATED ABBREVIATION [OMIM:618982] synonym: "IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION" RELATED [OMIM:618982] xref: DOID:0112015 {source="MONDO:equivalentTo"} xref: OMIM:618982 {source="MONDO:equivalentTo"} is_a: MONDO:0021094 {source="OMIM:618982"} ! immunodeficiency disease property_value: exactMatch DOID:0112015 property_value: exactMatch https://omim.org/entry/618982 [Term] id: MONDO:0033554 name: immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia synonym: "IMD73B" EXACT ABBREVIATION [OMIM:618986] synonym: "immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia" EXACT [OMIM:618986] xref: DOID:0112061 {source="MONDO:equivalentTo"} xref: OMIM:618986 {source="MONDO:equivalentTo"} is_a: MONDO:0017855 {source="PMID:31953710"} ! T-B- severe combined immunodeficiency property_value: exactMatch DOID:0112061 property_value: exactMatch https://omim.org/entry/618986 [Term] id: MONDO:0033555 name: immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia synonym: "IMD73C" EXACT ABBREVIATION [OMIM:618987] synonym: "IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA" EXACT [OMIM:618987] xref: DOID:0112062 {source="MONDO:equivalentTo"} xref: OMIM:618987 {source="MONDO:equivalentTo"} is_a: MONDO:0017855 {source="PMID:31953710"} ! T-B- severe combined immunodeficiency property_value: exactMatch DOID:0112062 property_value: exactMatch https://omim.org/entry/618987 [Term] id: MONDO:0033556 name: muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 synonym: "MDDGB15" RELATED ABBREVIATION [OMIM:618992] synonym: "Muscular Dystrophy, Congenital, Dpm3-Related" RELATED [OMIM:618992] synonym: "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15" RELATED [OMIM:618992] xref: DOID:0112376 {source="MONDO:equivalentTo"} xref: OMIM:618992 {source="MONDO:equivalentTo"} is_a: MONDO:0000172 {source="OMIM:618992"} ! muscular dystrophy-dystroglycanopathy, type B property_value: exactMatch DOID:0112376 property_value: exactMatch https://omim.org/entry/618992 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0033557 name: hemophagocytic lymphohistiocytosis, familial, 6 synonym: "FHL6" RELATED ABBREVIATION [OMIM:618998] synonym: "HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 6" RELATED [OMIM:618998] synonym: "immune dysregulation and systemic hyperinflammation syndrome" EXACT [OMIM:618998, OMIM:genemap2] xref: OMIM:618998 {source="MONDO:equivalentTo"} is_a: MONDO:0015541 {source="OMIM:618998"} ! hereditary hemophagocytic lymphohistiocytosis property_value: exactMatch https://omim.org/entry/618998 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0033558 name: autoinflammation, immune dysregulation, and eosinophilia synonym: "AIIDE" RELATED ABBREVIATION [OMIM:618999] synonym: "Atopic Dermatitis, Enteritis, Colitis, and Eosinophilia" RELATED [OMIM:618999] synonym: "AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA" RELATED [OMIM:618999] xref: OMIM:618999 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/entry/618999 [Term] id: MONDO:0033559 name: intellectual developmental disorder with seizures and language delay synonym: "IDDSELD" RELATED ABBREVIATION [OMIM:619000] synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY" RELATED [OMIM:619000] xref: OMIM:619000 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/entry/619000 [Term] id: MONDO:0033560 name: mitochondrial complex 1 deficiency, nuclear type 35 synonym: "MC1DN35" RELATED ABBREVIATION [OMIM:619003] synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35" RELATED [OMIM:619003] xref: DOID:0112139 {source="MONDO:equivalentTo"} xref: OMIM:619003 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch DOID:0112139 property_value: exactMatch https://omim.org/entry/619003 [Term] id: MONDO:0033561 name: deeah syndrome synonym: "DEEAH" RELATED ABBREVIATION [OMIM:619004] synonym: "DEEAH SYNDROME" RELATED [OMIM:619004] synonym: "Developmental Delay With Endocrine, Exocrine, Autonomic, and Hematologic Abnormalities" RELATED [OMIM:619004] xref: OMIM:619004 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/entry/619004 [Term] id: MONDO:0033562 name: neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia synonym: "NEDDISH" RELATED ABBREVIATION [OMIM:619005] synonym: "neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia" EXACT [OMIM:619005, OMIM:genemap2] synonym: "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA" RELATED [OMIM:619005] xref: OMIM:619005 {source="MONDO:equivalentTo"} is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch https://omim.org/entry/619005 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0033563 name: retinitis pigmentosa 90 synonym: "RETINITIS PIGMENTOSA 90" RELATED [OMIM:619007] synonym: "RP90" RELATED ABBREVIATION [OMIM:619007] xref: DOID:0112147 {source="MONDO:equivalentTo"} xref: OMIM:619007 {source="MONDO:equivalentTo"} is_a: MONDO:0019200 {source="OMIM:619007"} ! retinitis pigmentosa property_value: exactMatch DOID:0112147 property_value: exactMatch https://omim.org/entry/619007 [Term] id: MONDO:0033564 name: oocyte maturation defect 8 synonym: "OOCYTE MATURATION DEFECT 8" RELATED [OMIM:619009] synonym: "OOMD8" RELATED ABBREVIATION [OMIM:619009] xref: OMIM:619009 {source="MONDO:equivalentTo"} is_a: MONDO:0014769 {source="OMIM:619009"} ! inherited oocyte maturation defect property_value: exactMatch https://omim.org/entry/619009 [Term] id: MONDO:0033565 name: oocyte maturation defect 9 synonym: "OOCYTE MATURATION DEFECT 9" RELATED [OMIM:619011] synonym: "OOMD9" RELATED ABBREVIATION [OMIM:619011] xref: OMIM:619011 {source="MONDO:equivalentTo"} is_a: MONDO:0014769 {source="OMIM:619011"} ! inherited oocyte maturation defect property_value: exactMatch https://omim.org/entry/619011 [Term] id: MONDO:0033566 name: combined oxidative phosphorylation deficiency 48 synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48" RELATED [OMIM:619012] synonym: "COXPD48" RELATED ABBREVIATION [OMIM:619012] xref: DOID:0112112 {source="MONDO:equivalentTo"} xref: OMIM:619012 {source="MONDO:equivalentTo"} is_a: MONDO:0000732 {source="OMIM:619012"} ! combined oxidative phosphorylation deficiency property_value: exactMatch DOID:0112112 property_value: exactMatch https://omim.org/entry/619012 [Term] id: MONDO:0033569 name: combined oxidative phosphorylation deficiency 49 synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49" RELATED [OMIM:619024] synonym: "COXPD49" RELATED ABBREVIATION [OMIM:619024] xref: DOID:0112110 {source="MONDO:equivalentTo"} xref: OMIM:619024 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch DOID:0112110 property_value: exactMatch https://omim.org/entry/619024 [Term] id: MONDO:0033570 name: combined oxidative phosphorylation deficiency 50 synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50" RELATED [OMIM:619025] synonym: "COXPD50" RELATED ABBREVIATION [OMIM:619025] xref: DOID:0112111 {source="MONDO:equivalentTo"} xref: OMIM:619025 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch DOID:0112111 property_value: exactMatch https://omim.org/entry/619025 [Term] id: MONDO:0033572 name: intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies synonym: "IDDEBF" RELATED ABBREVIATION [OMIM:619031] synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES" RELATED [OMIM:619031] xref: OMIM:619031 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/entry/619031 [Term] id: MONDO:0033613 name: neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities subset: gard_rare synonym: "cerebral palsy spastic quadriplegic" RELATED [GARD:0010447] synonym: "cerebral palsy, spastic quadriplegic, 1" EXACT [MONDO:Lexical, OMIM:603513] synonym: "cerebral palsy, spastic quadriplegic, type 1" EXACT [MONDORULE:1, OMIM:603513] synonym: "CPSQ1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:603513] synonym: "infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome" EXACT [Orphanet:641353] synonym: "NEDSWMA" EXACT ABBREVIATION [OMIM:619026] xref: MESH:C567853 {source="MONDO:equivalentTo"} xref: OMIM:603513 {source="MONDO:equivalentObsolete", source="GARD:0010447"} xref: OMIM:619026 {source="MONDO:equivalentTo"} xref: Orphanet:641353 {source="MONDO:equivalentTo"} xref: UMLS:C2751938 {source="OMIM:603513", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0016215 {source="DC-OMIM:603513", source="MONDO:Redundant", source="OMIM:603513"} ! spastic quadriplegic cerebral palsy is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch http://identifiers.org/mesh/C567853 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751938 property_value: exactMatch https://omim.org/entry/619026 property_value: exactMatch Orphanet:641353 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3807 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10447/cerebral-palsy-spastic-quadriplegic xsd:anyURI {source="GARD:0010447"} [Term] id: MONDO:0033614 name: spastic paraplegia 83, autosomal recessive synonym: "SPG83" EXACT ABBREVIATION [OMIM:619027] xref: DOID:0112346 {source="MONDO:equivalentTo"} xref: OMIM:619027 {source="MONDO:equivalentTo"} is_a: MONDO:0019064 {source="OMIM:619027"} ! hereditary spastic paraplegia property_value: exactMatch DOID:0112346 property_value: exactMatch https://omim.org/entry/619027 [Term] id: MONDO:0033615 name: coenzyme q10 deficiency, primary, 9 synonym: "COQ10D9" EXACT ABBREVIATION [OMIM:619028] xref: DOID:0112138 {source="MONDO:equivalentTo"} xref: OMIM:619028 {source="MONDO:equivalentTo"} is_a: MONDO:0018151 {source="OMIM:619028"} ! coenzyme Q10 deficiency property_value: exactMatch DOID:0112138 property_value: exactMatch https://omim.org/entry/619028 [Term] id: MONDO:0033618 name: Vissers-Bodmer syndrome synonym: "VIBOS" EXACT ABBREVIATION [OMIM:619033] xref: OMIM:619033 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/entry/619033 [Term] id: MONDO:0033619 name: myopathy, epilepsy, and progressive cerebral atrophy synonym: "MEPCA" EXACT ABBREVIATION [OMIM:619036] xref: OMIM:619036 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/entry/619036 [Term] id: MONDO:0033620 name: myofibrillar myopathy 10 synonym: "MFM10" EXACT ABBREVIATION [OMIM:619040] xref: DOID:0112108 {source="MONDO:equivalentTo"} xref: OMIM:619040 {source="MONDO:equivalentTo"} is_a: MONDO:0018943 {source="OMIM:619040"} ! myofibrillar myopathy property_value: exactMatch DOID:0112108 property_value: exactMatch https://omim.org/entry/619040 [Term] id: MONDO:0033621 name: spinal muscular atrophy, infantile, James type synonym: "SMAJI" EXACT ABBREVIATION [OMIM:619042] xref: OMIM:619042 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/entry/619042 [Term] id: MONDO:0033622 name: spermatogenic failure 44 synonym: "SPGF44" EXACT ABBREVIATION [OMIM:619044] xref: DOID:0112109 {source="MONDO:equivalentTo"} xref: OMIM:619044 {source="MONDO:equivalentTo"} is_a: EFO:0000279 {source="OMIM:619044"} ! azoospermia property_value: exactMatch DOID:0112109 property_value: exactMatch https://omim.org/entry/619044 [Term] id: MONDO:0033630 name: neurodevelopmental disorder with speech impairment and dysmorphic facies synonym: "NEDSID" EXACT ABBREVIATION [OMIM:619056] xref: DOID:0070417 {source="MONDO:equivalentTo"} xref: OMIM:619056 {source="MONDO:equivalentTo"} is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch DOID:0070417 property_value: exactMatch https://omim.org/entry/619056 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0033635 name: mitochondrial complex 4 deficiency, nuclear type 3 synonym: "MC4DN3" EXACT ABBREVIATION [OMIM:619046] synonym: "mitochondrial complex IV deficiency, nuclear type 3" EXACT [OMIM:619046, OMIM:genemap2] xref: OMIM:619046 {source="MONDO:equivalentTo"} is_a: MONDO:0033885 {source="OMIM:619046"} ! mitochondrial complex IV deficiency, nuclear-type property_value: exactMatch https://omim.org/entry/619046 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0033636 name: mitochondrial complex 4 deficiency, nuclear type 4 synonym: "MC4DN4" EXACT ABBREVIATION [OMIM:619048] synonym: "mitochondrial complex IV deficiency, nuclear type 4" EXACT [OMIM:619048, OMIM:genemap2] xref: OMIM:619048 {source="MONDO:equivalentTo"} is_a: MONDO:0033885 {source="OMIM:619048"} ! mitochondrial complex IV deficiency, nuclear-type property_value: exactMatch https://omim.org/entry/619048 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0033637 name: mitochondrial complex 4 deficiency, nuclear type 7 synonym: "MC4DN7" EXACT ABBREVIATION [OMIM:619051] synonym: "mitochondrial complex IV deficiency, nuclear type 7" EXACT [OMIM:619051, OMIM:genemap2] xref: OMIM:619051 {source="MONDO:equivalentTo"} is_a: MONDO:0033885 {source="OMIM:619051"} ! mitochondrial complex IV deficiency, nuclear-type property_value: exactMatch https://omim.org/entry/619051 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0033638 name: mitochondrial complex 4 deficiency, nuclear type 8 synonym: "MC4DN8" EXACT ABBREVIATION [OMIM:619052] synonym: "mitochondrial complex IV deficiency, nuclear type 8" EXACT [OMIM:619052, OMIM:genemap2] xref: OMIM:619052 {source="MONDO:equivalentTo"} is_a: MONDO:0033885 {source="OMIM:619052"} ! mitochondrial complex IV deficiency, nuclear-type property_value: exactMatch https://omim.org/entry/619052 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0033639 name: mitochondrial complex 4 deficiency, nuclear type 10 synonym: "MC4DN10" EXACT ABBREVIATION [OMIM:619053] synonym: "mitochondrial complex IV deficiency, nuclear type 10" EXACT [OMIM:619053, OMIM:genemap2] xref: OMIM:619053 {source="MONDO:equivalentTo"} is_a: MONDO:0033885 {source="OMIM:619053"} ! mitochondrial complex IV deficiency, nuclear-type property_value: exactMatch https://omim.org/entry/619053 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0033643 name: inflammatory bowel disease 30 synonym: "IBD30" EXACT ABBREVIATION [OMIM:619079] synonym: "inflammatory bowel disease (Crohn disease) 30" EXACT [OMIM:619079, OMIM:genemap2] xref: DOID:0112154 {source="MONDO:equivalentTo"} xref: OMIM:619079 {source="MONDO:equivalentTo"} is_a: EFO:0003767 {source="OMIM:619079"} ! inflammatory bowel disease property_value: exactMatch DOID:0112154 property_value: exactMatch https://omim.org/entry/619079 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0033645 name: mitochondrial complex 4 deficiency, nuclear type 11 synonym: "MC4DN11" EXACT ABBREVIATION [OMIM:619054] synonym: "mitochondrial complex IV deficiency, nuclear type 11" EXACT [OMIM:619054, OMIM:genemap2] xref: OMIM:619054 {source="MONDO:equivalentTo"} is_a: MONDO:0033885 {source="OMIM:619054"} ! mitochondrial complex IV deficiency, nuclear-type property_value: exactMatch https://omim.org/entry/619054 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0033646 name: mitochondrial complex 4 deficiency, nuclear type 12 synonym: "MC4DN12" EXACT ABBREVIATION [OMIM:619055] synonym: "mitochondrial complex IV deficiency, nuclear type 12" EXACT [OMIM:619055, OMIM:genemap2] xref: OMIM:619055 {source="MONDO:equivalentTo"} is_a: MONDO:0033885 {source="OMIM:619055"} ! mitochondrial complex IV deficiency, nuclear-type property_value: exactMatch https://omim.org/entry/619055 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0033649 name: mitochondrial complex 4 deficiency, nuclear type 14 synonym: "MC4DN14" EXACT ABBREVIATION [OMIM:619058] synonym: "mitochondrial complex IV deficiency, nuclear type 14" EXACT [OMIM:619058, OMIM:genemap2] xref: OMIM:619058 {source="MONDO:equivalentTo"} is_a: MONDO:0033885 {source="OMIM:619058"} ! mitochondrial complex IV deficiency, nuclear-type property_value: exactMatch https://omim.org/entry/619058 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0033650 name: mitochondrial complex 4 deficiency, nuclear type 15 synonym: "MC4DN15" EXACT ABBREVIATION [OMIM:619059] synonym: "mitochondrial complex IV deficiency, nuclear type 15" EXACT [OMIM:619059, OMIM:genemap2] xref: OMIM:619059 {source="MONDO:equivalentTo"} is_a: MONDO:0033885 {source="OMIM:619059"} ! mitochondrial complex IV deficiency, nuclear-type property_value: exactMatch https://omim.org/entry/619059 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0033651 name: mitochondrial complex 4 deficiency, nuclear type 16 synonym: "MC4DN16" EXACT ABBREVIATION [OMIM:619060] synonym: "mitochondrial complex IV deficiency, nuclear type 16" EXACT [OMIM:619060, OMIM:genemap2] xref: OMIM:619060 {source="MONDO:equivalentTo"} is_a: MONDO:0033885 {source="OMIM:619060"} ! mitochondrial complex IV deficiency, nuclear-type property_value: exactMatch https://omim.org/entry/619060 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0033652 name: mitochondrial complex 4 deficiency, nuclear type 17 synonym: "MC4DN17" EXACT ABBREVIATION [OMIM:619061] synonym: "mitochondrial complex IV deficiency, nuclear type 17" EXACT [OMIM:619061, OMIM:genemap2] xref: OMIM:619061 {source="MONDO:equivalentTo"} is_a: MONDO:0033885 {source="OMIM:619061"} ! mitochondrial complex IV deficiency, nuclear-type property_value: exactMatch https://omim.org/entry/619061 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0033653 name: mitochondrial complex 4 deficiency, nuclear type 18 synonym: "MC4DN18" EXACT ABBREVIATION [OMIM:619062] synonym: "mitochondrial complex IV deficiency, nuclear type 18" EXACT [OMIM:619062, OMIM:genemap2] xref: OMIM:619062 {source="MONDO:equivalentTo"} is_a: MONDO:0033885 {source="OMIM:619062"} ! mitochondrial complex IV deficiency, nuclear-type property_value: exactMatch https://omim.org/entry/619062 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0033654 name: mitochondrial complex 4 deficiency, nuclear type 19 synonym: "MC4DN19" EXACT ABBREVIATION [OMIM:619063] synonym: "mitochondrial complex IV deficiency, nuclear type 19" EXACT [OMIM:619063, OMIM:genemap2] xref: OMIM:619063 {source="MONDO:equivalentTo"} is_a: MONDO:0033885 {source="OMIM:619063"} ! mitochondrial complex IV deficiency, nuclear-type property_value: exactMatch https://omim.org/entry/619063 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0033655 name: mitochondrial complex 4 deficiency, nuclear type 20 synonym: "MC4DN20" EXACT ABBREVIATION [OMIM:619064] synonym: "mitochondrial complex IV deficiency, nuclear type 20" EXACT [OMIM:619064, OMIM:genemap2] xref: OMIM:619064 {source="MONDO:equivalentTo"} is_a: MONDO:0033885 {source="OMIM:619064"} ! mitochondrial complex IV deficiency, nuclear-type property_value: exactMatch https://omim.org/entry/619064 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0033656 name: mitochondrial complex 4 deficiency, nuclear type 21 synonym: "MC4DN21" EXACT ABBREVIATION [OMIM:619065] synonym: "mitochondrial complex IV deficiency, nuclear type 21" EXACT [OMIM:619065, OMIM:genemap2] xref: OMIM:619065 {source="MONDO:equivalentTo"} is_a: MONDO:0033885 {source="OMIM:619065"} ! mitochondrial complex IV deficiency, nuclear-type property_value: exactMatch https://omim.org/entry/619065 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0033664 name: Kilquist syndrome def: "An autosomal recessive multisystem disorder characterized by neurologic, gastrointestinal, and secretory dysfunction. Affected individuals present at birth with hypotonia, feeding difficulties, mild dysmorphic features, and sensorineural hearing loss. They show poor overall growth associated with gastrointestinal anomalies such as gastroesophageal reflux or midgut malrotation, as well as profound global developmental delay with inability to sit or speak. Tear, sweat, and saliva production is also impaired, causing dry mouth and recurrent bronchial mucus plugging. Some of the clinical features are reminiscent of cystic fibrosis." [OMIM:619080, PMID:30740830, PMID:32754646] synonym: "KILQS" EXACT ABBREVIATION [OMIM:619080] xref: OMIM:619080 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/entry/619080 [Term] id: MONDO:0033665 name: hearing loss, autosomal dominant 78 synonym: "deafness, autosomal dominant 78" NARROW [OMIM:619081, OMIM:genemap2] synonym: "DFNA78" NARROW ABBREVIATION [OMIM:619081] xref: DOID:0112159 {source="MONDO:equivalentTo"} xref: OMIM:619081 {source="MONDO:equivalentTo"} is_a: MONDO:0019587 {source="OMIM:619081"} ! autosomal dominant nonsyndromic hearing loss property_value: exactMatch DOID:0112159 property_value: exactMatch https://omim.org/entry/619081 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/551 xsd:anyURI [Term] id: MONDO:0033667 name: Delpire-McNeill syndrome synonym: "DELMNES" EXACT ABBREVIATION [OMIM:619083] xref: OMIM:619083 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/entry/619083 [Term] id: MONDO:0033671 name: spermatogenic failure 45 synonym: "SPGF45" EXACT ABBREVIATION [OMIM:619094] xref: DOID:0112163 {source="MONDO:equivalentTo"} xref: OMIM:619094 {source="MONDO:equivalentTo"} is_a: EFO:0000279 {source="OMIM:619094"} ! azoospermia property_value: exactMatch DOID:0112163 property_value: exactMatch https://omim.org/entry/619094 [Term] id: MONDO:0033673 name: spermatogenic failure 46 synonym: "SPGF46" EXACT ABBREVIATION [OMIM:619095] xref: DOID:0112164 {source="MONDO:equivalentTo"} xref: OMIM:619095 {source="MONDO:equivalentTo"} is_a: EFO:0000279 {source="OMIM:619095"} ! azoospermia property_value: exactMatch DOID:0112164 property_value: exactMatch https://omim.org/entry/619095 [Term] id: MONDO:0033683 name: congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome subset: ordo_disease synonym: "MYSM1 deficiency" EXACT [Orphanet:508542] xref: Orphanet:508542 {source="MONDO:equivalentTo"} is_a: EFO:0003820 ! bone neoplasm is_a: MONDO:0009332 ! congenital hematological disorder is_a: MONDO:0015159 {source="Orphanet:508542"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015708 {source="Orphanet:508542"} ! immuno-osseous dysplasia is_a: MONDO:0018454 ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation is_a: MONDO:0019453 {source="Orphanet:508542"} ! myelodysplastic syndrome with multilineage dysplasia is_a: MONDO:0023603 ! hereditary disorder of connective tissue property_value: exactMatch Orphanet:508542 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0033864 name: infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome subset: ordo_disease synonym: "Baker-Gordon syndrome" EXACT [OMIM:618218, OMIM:genemap2] xref: OMIM:618218 {source="MONDO:equivalentTo", source="Orphanet:522077"} xref: Orphanet:522077 {source="MONDO:equivalentTo"} is_a: EFO:0004280 {source="MONDO:0044636-obsoleted"} ! movement disorder is_a: MONDO:0015368 ! neuro-ophthalmological disease property_value: exactMatch https://omim.org/entry/618218 property_value: exactMatch Orphanet:522077 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0033885 name: mitochondrial complex IV deficiency, nuclear-type xref: OMIMPS:220110 {source="MONDO:equivalentTo"} is_a: MONDO:0000066 {source="OMIMPS:220110"} ! mitochondrial complex deficiency property_value: exactMatch https://omim.org/phenotypicSeries/PS220110 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0033946 name: hereditary angioedema with C1Inh deficiency def: "Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein." [MESH:D056829] subset: ordo_disease synonym: "angioedema, hereditary, 1 and 2" EXACT [OMIM:106100, OMIM:genemap2] synonym: "angioedema, hereditary, type 1" RELATED [OMIM:106100] synonym: "angioedema, hereditary, type 1/2" EXACT [MONDO:0007117] synonym: "angioedema, hereditary, type 2" RELATED [OMIM:106100] synonym: "angioedema, hereditary, type I" RELATED [MONDO:Lexical, OMIM:106100] synonym: "angioneurotic edema, hereditary" RELATED [OMIM:106100] synonym: "C1 esterase inhibitor, deficiency of" RELATED [OMIM:106100] synonym: "HAE1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:106100] xref: DOID:0080939 {source="MONDO:equivalentTo"} xref: OMIM:106100 {source="MONDO:equivalentTo"} xref: Orphanet:528623 {source="MONDO:equivalentTo"} is_a: MONDO:0019623 {source="DC-OMIM:106100", source="Orphanet:528623"} ! hereditary angioedema is_a: MONDO:0027749 ! serpinopathy disjoint_from: MONDO:0033947 ! hereditary angioedema with normal C1Inh property_value: exactMatch DOID:0080939 property_value: exactMatch https://omim.org/entry/106100 property_value: exactMatch Orphanet:528623 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0033947 name: hereditary angioedema with normal C1Inh comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: obsoletion_candidate subset: ordo_disease xref: Orphanet:528647 {source="MONDO:equivalentTo"} is_a: MONDO:0019623 {source="Orphanet:528647"} ! hereditary angioedema property_value: exactMatch Orphanet:528647 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0034022 name: Bethlem myopathy 2 subset: ordo_disease synonym: "Bethlem myopathy 2" EXACT [MONDO:Lexical, OMIM:616471] synonym: "Bethlem myopathy caused by mutation in COL12A1" EXACT [MONDO:design_pattern] synonym: "Bethlem myopathy type 2" EXACT [MONDORULE:1, OMIM:616471] synonym: "BTHLM2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616471] synonym: "COL12A1 Bethlem myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "EDS, myopathic type" EXACT [OMIM:616471] synonym: "Ehlers-Danlos syndrome, myopathic type" EXACT [OMIM:616471] synonym: "myopathic EDS" EXACT [Orphanet:536516] synonym: "myopathic Ehlers-Danlos syndrome" EXACT [Orphanet:536516] xref: OMIM:616471 {source="MONDO:equivalentTo"} xref: Orphanet:536516 {source="MONDO:equivalentTo"} xref: UMLS:C4225313 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0008029 {source="MONDO:Redundant", source="OMIM:616471", source="Orphanet:610/btnt"} ! Bethlem myopathy is_a: MONDO:0020066 {source="Orphanet:536516"} ! Ehlers-Danlos syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225313 property_value: exactMatch https://omim.org/entry/616471 property_value: exactMatch Orphanet:536516 [Term] id: MONDO:0034024 name: kyphoscoliotic Ehlers-Danlos syndrome def: "A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP14 (formerly FKBP22), and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype." [https://orcid.org/0000-0001-5493-2602, Orphanet:536545] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: obsoletion_candidate subset: ordo_disease synonym: "EDS VI" EXACT ABBREVIATION [Orphanet:536545] synonym: "kyphoscoliotic EDS" EXACT [Orphanet:536545] xref: Orphanet:536545 {source="MONDO:equivalentTo"} is_a: MONDO:0020066 {source="Orphanet:536545"} ! Ehlers-Danlos syndrome property_value: exactMatch Orphanet:536545 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4918 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0034103 name: infection-related hemolytic uremic syndrome subset: ordo_disease xref: Orphanet:544482 {source="MONDO:equivalentTo"} is_a: MONDO:0001549 ! hemolytic-uremic syndrome is_a: MONDO:0021669 ! post-infectious disorder intersection_of: MONDO:0001549 ! hemolytic-uremic syndrome intersection_of: disease_arises_from_feature EFO:0005741 ! infectious disease property_value: exactMatch Orphanet:544482 [Term] id: MONDO:0034145 name: oculocerebrodental syndrome subset: ordo_disease synonym: "Cataracts, Early-Onset, With Skeletal and Dental Anomalies" RELATED [OMIM:618440] synonym: "OCSKD" RELATED ABBREVIATION [OMIM:618440] synonym: "oculoskeletodental syndrome" RELATED [OMIM:618440] xref: OMIM:618440 {source="MONDO:equivalentTo"} xref: Orphanet:557003 {source="MONDO:equivalentTo", source="OMIM:618440"} is_a: EFO:0003900 {source="Orphanet:557003"} ! ciliopathy is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:557003"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch https://omim.org/entry/618440 property_value: exactMatch Orphanet:557003 property_value: excluded_subClassOf MONDO:0019705 {source="Orphanet:557003"} [Term] id: MONDO:0034204 name: syndromic congenital sodium diarrhea subset: ordo_disease xref: Orphanet:563708 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 ! syndromic disease is_a: MONDO:0015170 {source="MONDO:cjm"} ! congenital sodium diarrhea is_a: MONDO:0019126 {source="Orphanet:563708"} ! intractable diarrhea of infancy intersection_of: MONDO:0015170 ! congenital sodium diarrhea intersection_of: has_characteristic MONDO:0021127 ! has a syndromic presentation property_value: exactMatch Orphanet:563708 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0034217 name: resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: obsoletion_candidate subset: ordo_disease xref: Orphanet:566243 {source="MONDO:equivalentTo"} is_a: MONDO:0001328 ! thyroid hormone resistance syndrome property_value: exactMatch Orphanet:566243 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0034976 name: iatrogenic Creutzfeldt-Jakob disease subset: ordo_disease xref: Orphanet:576379 {source="MONDO:equivalentTo"} is_a: MONDO:0018686 {source="Orphanet:576379"} ! acquired Creutzfeldt-Jakob disease is_a: MONDO:0043544 ! nosocomial infection intersection_of: MONDO:0018686 ! acquired Creutzfeldt-Jakob disease intersection_of: has_characteristic MONDO:0100426 ! iatrogenic property_value: exactMatch Orphanet:576379 [Term] id: MONDO:0035133 name: PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome subset: ordo_disease synonym: "Chung-Jansen syndrome" EXACT [OMIM:617991, OMIM:genemap2] synonym: "developmental delay, intellectual disability, obesity, and dysmorphic features" EXACT [OMIM:617991] synonym: "DIDOD" RELATED ABBREVIATION [OMIM:617991] xref: OMIM:617991 {source="MONDO:equivalentTo"} xref: Orphanet:589905 {source="MONDO:equivalentTo"} xref: UMLS:CN248510 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:589905"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0016565 {source="Orphanet:589905"} ! syndromic genetic obesity property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN248510 property_value: exactMatch https://omim.org/entry/617991 property_value: exactMatch Orphanet:589905 property_value: excluded_subClassOf MONDO:0000508 {source="Orphanet:589905", source="https://clinicalgenome.org/affiliation/40060/"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4803 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0035162 name: PIK3CA-related overgrowth syndrome comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: obsoletion_candidate subset: ordo_group_of_disorders synonym: "PROS" EXACT ABBREVIATION [Orphanet:530313] xref: Orphanet:530313 {source="MONDO:equivalentTo"} is_a: MONDO:0019716 {source="Orphanet:530313"} ! overgrowth syndrome property_value: exactMatch Orphanet:530313 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0035290 name: atypical hemolytic uremic syndrome with complement gene abnormality subset: ordo_subtype_of_a_disorder synonym: "aHUS with complement gene abnormality" EXACT [Orphanet:544472] synonym: "Atypical HUS with complement gene abnormality" EXACT [Orphanet:544472] xref: ICD10CM:D58.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:544472"} xref: Orphanet:544472 {source="MONDO:equivalentTo"} is_a: MONDO:0016244 {source="Orphanet:544472"} ! atypical hemolytic-uremic syndrome property_value: broadMatch http://purl.bioontology.org/ontology/ICD10CM/D58.8 property_value: exactMatch Orphanet:544472 [Term] id: MONDO:0035525 name: blepharophimosis-ptosis-epicanthus inversus syndrome type 2 subset: ordo_subtype_of_a_disorder synonym: "blepharophimosis-ptosis-epicanthus inversus syndrome without premature ovarian failure" EXACT [Orphanet:572361] synonym: "BPES type 2" EXACT [Orphanet:572361] xref: Orphanet:572361 {source="MONDO:equivalentTo"} is_a: MONDO:0007201 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! blepharophimosis, ptosis, and epicanthus inversus syndrome property_value: exactMatch Orphanet:572361 [Term] id: MONDO:0035682 name: fibrous dysplasia/McCune-Albright syndrome comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: obsoletion_candidate subset: ordo_group_of_disorders synonym: "FD/MAS spectrum" EXACT [Orphanet:595216] synonym: "FD/MAS syndrome" EXACT [Orphanet:595216] synonym: "Fibrous dysplasia/McCune-Albright spectrum" EXACT [Orphanet:595216] xref: Orphanet:595216 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease property_value: exactMatch Orphanet:595216 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0035737 name: acquired factor V deficiency subset: ordo_disorder xref: NCIT:C131624 {source="MONDO:equivalentTo"} xref: Orphanet:599490 {source="MONDO:equivalentTo"} is_a: MONDO:0020586 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! factor V deficiency is_a: MONDO:0020599 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! acquired coagulation factor deficiency intersection_of: MONDO:0020586 ! factor V deficiency intersection_of: has_characteristic MONDO:0021141 ! acquired property_value: exactMatch NCIT:C131624 property_value: exactMatch Orphanet:599490 [Term] id: MONDO:0035738 name: acquired factor VII deficiency subset: ordo_disorder xref: NCIT:C131625 {source="MONDO:equivalentTo"} xref: Orphanet:599495 {source="MONDO:equivalentTo"} is_a: MONDO:0002244 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! factor VII deficiency is_a: MONDO:0020599 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! acquired coagulation factor deficiency intersection_of: MONDO:0002244 ! factor VII deficiency intersection_of: has_characteristic MONDO:0021141 ! acquired property_value: exactMatch NCIT:C131625 property_value: exactMatch Orphanet:599495 [Term] id: MONDO:0035740 name: acquired factor XI deficiency subset: ordo_disorder synonym: "aFXI" EXACT ABBREVIATION [Orphanet:599507] xref: NCIT:C131627 {source="MONDO:equivalentTo"} xref: Orphanet:599507 {source="MONDO:equivalentTo"} is_a: MONDO:0019139 ! acquired hemophilia is_a: MONDO:0020587 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! factor XI deficiency intersection_of: MONDO:0020587 ! factor XI deficiency intersection_of: has_characteristic MONDO:0021141 ! acquired property_value: exactMatch NCIT:C131627 property_value: exactMatch Orphanet:599507 [Term] id: MONDO:0036484 name: Charcot-Marie-Tooth disease, dominant intermediate G synonym: "Charcot-Marie-Tooth disease dominant intermediate G" RELATED [DOID:0080294] synonym: "Charcot-Marie-Tooth disease, dominant intermediate G" EXACT [OMIM:617882] synonym: "CMTDIG" RELATED ABBREVIATION [OMIM:617882] xref: DOID:0080294 {source="MONDO:equivalentTo"} xref: OMIM:617882 {source="DOID:0080294", source="MONDO:equivalentTo"} xref: UMLS:CN847583 {source="MONDO:equivalentTo"} is_a: MONDO:0018778 {source="DOID:0080294"} ! intermediate Charcot-Marie-Tooth disease property_value: exactMatch DOID:0080294 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN847583 property_value: exactMatch https://omim.org/entry/617882 [Term] id: MONDO:0036511 name: childhood malignant kidney neoplasm def: "A malignant neoplasm that affects the kidney and occurs in childhood." [NCIT:C123907] synonym: "childhood kidney cancer" EXACT [MONDO:design_pattern] synonym: "childhood malignant kidney neoplasm" EXACT [NCIT:C123907] synonym: "childhood malignant kidney tumor" EXACT [NCIT:C123907] synonym: "childhood malignant kidney tumour" EXACT OMO:0003005 [] synonym: "childhood malignant renal neoplasm" EXACT [NCIT:C123907] synonym: "childhood malignant renal tumor" EXACT [NCIT:C123907] synonym: "childhood malignant renal tumour" EXACT OMO:0003005 [] synonym: "kidney cancer of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "paediatric kidney cancer" EXACT OMO:0003005 [] synonym: "pediatric kidney cancer" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] xref: NCIT:C123907 {source="MONDO:equivalentTo"} xref: UMLS:C4086162 {source="MONDO:equivalentTo", source="NCIT:C123907"} is_a: EFO:1000654 {source="MONDO:Redundant", source="NCIT:C123907"} ! childhood cancer is_a: MONDO:0002367 {source="MONDO:Redundant", source="NCIT:C123907"} ! kidney cancer is_a: MONDO:0002730 {source="MONDO:Redundant", source="NCIT:C123907"} ! childhood kidney neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4086162 property_value: exactMatch NCIT:C123907 [Term] id: MONDO:0036591 name: adrenal cortex neoplasm def: "A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05)" [NCIT:C2858] synonym: "adrenal cortex neoplasm" EXACT [NCIT:C2858] synonym: "adrenal cortex tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2858] synonym: "adrenal cortex tumour" EXACT OMO:0003005 [] synonym: "adrenocortical neoplasm" EXACT [NCIT:C2858] synonym: "adrenocortical tumor" EXACT [NCIT:C2858] synonym: "adrenocortical tumour" EXACT OMO:0003005 [] synonym: "neoplasm of adrenal cortex" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of adrenal cortex" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of adrenal cortex" EXACT OMO:0003005 [] xref: MESH:D000306 {source="MONDO:equivalentTo"} xref: NCIT:C2858 {source="MONDO:equivalentTo"} is_a: EFO:0003850 ! adrenal gland neoplasm is_a: MONDO:0002816 ! adrenal cortex disorder property_value: exactMatch http://identifiers.org/mesh/D000306 property_value: exactMatch NCIT:C2858 [Term] id: MONDO:0036688 name: rhabdomyoma def: "A benign mesenchymal tumor arising from skeletal or cardiac muscle." [NCIT:C3358] synonym: "rhabdomyoma" EXACT [NCIT:C3358] synonym: "rhabdomyoma, benign" EXACT [NCIT:C3358] synonym: "Rhabdomyomatous neoplasm" EXACT [NCIT:C3358] xref: ICDO:8900/0 {source="NCIT:C3358"} xref: MESH:D012207 {source="MONDO:equivalentTo"} xref: NCIT:C3358 {source="MONDO:equivalentTo"} xref: SCTID:402877008 {source="MONDO:equivalentTo"} xref: UMLS:C0035411 {source="MONDO:equivalentTo", source="NCIT:C3358"} is_a: MONDO:0003061 {source="MESH:D012207", source="NCIT:C3358"} ! benign muscle neoplasm property_value: exactMatch http://identifiers.org/mesh/D012207 property_value: exactMatch http://identifiers.org/snomedct/402877008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035411 property_value: exactMatch NCIT:C3358 [Term] id: MONDO:0036696 name: spleen neoplasm def: "A benign or malignant neoplasm that affects the spleen. Representative examples include hemangioma, lymphoma, splenic involvement by leukemia, and angiosarcoma." [NCIT:C3383] synonym: "neoplasm of spleen" EXACT [MONDO:patterns/neoplasm] synonym: "spleen tumor" EXACT [MONDO:patterns/neoplasm] synonym: "spleen tumour" EXACT OMO:0003005 [] synonym: "splenic neoplasm" EXACT [NCIT:C3383] synonym: "tumor of spleen" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of spleen" EXACT OMO:0003005 [] xref: NCIT:C3383 {source="MONDO:equivalentTo"} is_a: EFO:0008549 ! digestive system neoplasm is_a: EFO:0009002 ! splenic disease is_a: MONDO:0002334 {source="MONDO:Redundant", source="NCIT:C3383"} ! hematopoietic and lymphoid system neoplasm property_value: exactMatch NCIT:C3383 [Term] id: MONDO:0036870 name: lymphatic vessel neoplasm def: "A benign or malignant neoplasm arising from the lymphatic vessels." [NCIT:C3723] synonym: "lymph vessel neoplasm" EXACT [NCIT:C3723] synonym: "lymph vessel tumor" EXACT [NCIT:C3723] synonym: "lymph vessel tumour" EXACT OMO:0003005 [] synonym: "lymphatic vessel neoplasm" EXACT [NCIT:C3723] synonym: "lymphatic vessel tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3723] synonym: "lymphatic vessel tumour" EXACT OMO:0003005 [] synonym: "neoplasm of lymph vessel" EXACT [NCIT:C3723] synonym: "neoplasm of lymphatic vessel" EXACT [MONDO:patterns/neoplasm, NCIT:C3723] synonym: "neoplasm of the lymph vessel" EXACT [NCIT:C3723] synonym: "neoplasm of the lymphatic vessel" EXACT [NCIT:C3723] synonym: "tumor of lymph vessel" EXACT [NCIT:C3723] synonym: "tumor of lymphatic vessel" EXACT [MONDO:patterns/neoplasm, NCIT:C3723] synonym: "tumor of the lymph vessel" EXACT [NCIT:C3723] synonym: "tumor of the lymphatic vessel" EXACT [NCIT:C3723] synonym: "tumour of lymph vessel" EXACT OMO:0003005 [] synonym: "tumour of lymphatic vessel" EXACT OMO:0003005 [] synonym: "tumour of the lymph vessel" EXACT OMO:0003005 [] synonym: "tumour of the lymphatic vessel" EXACT OMO:0003005 [] xref: NCIT:C3723 {source="MONDO:equivalentTo"} xref: UMLS:C0206619 {source="MONDO:equivalentTo", source="NCIT:C3723"} is_a: EFO:0004264 ! vascular disease is_a: EFO:0007352 ! lymphatic system disease is_a: MONDO:0024296 {source="MONDO:Redundant", source="NCIT:C3723"} ! vascular neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206619 property_value: exactMatch NCIT:C3723 [Term] id: MONDO:0036976 name: benign epithelial neoplasm def: "A neoplasm arising from the epithelial cells. It is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign epithelial neoplasms remain confined to the original site of growth and only rarely metastasize to other anatomic sites." [NCIT:C4092] synonym: "benign epithelial neoplasm" EXACT [NCIT:C4092] synonym: "benign epithelial tumor" EXACT [NCIT:C4092] synonym: "benign epithelial tumour" EXACT OMO:0003005 [] synonym: "benign epithelioma" EXACT [NCIT:C4092] synonym: "benign neoplasm of epithelium" EXACT [NCIT:C4092] synonym: "benign neoplasm of the epithelium" EXACT [NCIT:C4092] synonym: "benign tumor of epithelium" EXACT [NCIT:C4092] synonym: "benign tumor of the epithelium" EXACT [NCIT:C4092] synonym: "benign tumour of epithelium" EXACT OMO:0003005 [] synonym: "benign tumour of the epithelium" EXACT OMO:0003005 [] synonym: "epithelial neoplasm, benign" EXACT [MONDO:patterns/benign] synonym: "epithelioma, benign" EXACT [NCIT:C4092] xref: ICDO:8010/0 {source="NCIT:C4092"} xref: ICDO:8011/0 {source="NCIT:C4092"} xref: NCIT:C4092 {source="MONDO:equivalentTo"} xref: UMLS:C0334232 {source="MONDO:equivalentTo", source="NCIT:C4092"} is_a: EFO:0002422 ! benign neoplasm is_a: EFO:0006858 {source="MONDO:Redundant", source="NCIT:C4092"} ! epithelial neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334232 property_value: exactMatch NCIT:C4092 [Term] id: MONDO:0037003 name: malignant phyllodes tumor def: "A phyllodes tumor with sarcomatous stroma. The sarcomatous component is usually of the fibrosarcomatous type. Liposarcomatous, chondrosarcomatous, osteosarcomatous, or rhabdomyosarcomatous differentiation may also occur in the stroma. It may recur and metastasize following surgical resection. The lung and skeleton are the anatomic sites most frequently involved by metastases." [NCIT:C4275] synonym: "malignant cystosarcoma phyllodes" EXACT [NCIT:C4275] synonym: "malignant phyllodes neoplasm" EXACT [NCIT:C4275] synonym: "malignant phyllodes tumor" EXACT [NCIT:C4275] synonym: "phyllodes tumor, malignant" EXACT [MONDO:patterns/malignant] xref: ICDO:9020/3 {source="NCIT:C4275"} xref: NCIT:C4275 {source="MONDO:equivalentTo"} is_a: EFO:0000653 {source="MONDO:Redundant", source="NCIT:C4275"} ! phyllodes tumor is_a: EFO:1000356 {source="MONDO:Redundant", source="NCIT:C4275"} ! Malignant Mixed Neoplasm property_value: exactMatch NCIT:C4275 [Term] id: MONDO:0037254 name: transitional cell neoplasm synonym: "transitional cell neoplasm" EXACT [NCIT:C6783] synonym: "transitional cell tumor" EXACT [NCIT:C6783] synonym: "transitional cell tumour" EXACT OMO:0003005 [] xref: NCIT:C6783 {source="MONDO:equivalentTo"} xref: UMLS:C0334265 {source="NCIT:C6783", source="MONDO:equivalentTo"} is_a: EFO:0006858 {source="NCIT:C6783"} ! epithelial neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334265 property_value: exactMatch NCIT:C6783 [Term] id: MONDO:0037255 name: ovarian serous tumor def: "A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that, in well differentiated tumors, resemble the epithelial cells of the fallopian tube and, in poorly differentiated tumors, show anaplastic features. Approximately thirty to fifty percent of the tumors are bilateral. Grossly, the better differentiated tumors consist of cystic masses, usually unilocular, containing a clear but sometimes viscous fluid. Papillary formations are often present. The more malignant tumors tend to be solid and invasive, with areas of necrosis and hemorrhage." [NCIT:C8431] synonym: "ovarian serous neoplasm" EXACT [NCIT:C8431] synonym: "ovarian serous tumor" EXACT [NCIT:C8431] synonym: "serous neoplasm of ovary" EXACT [NCIT:C8431] synonym: "serous neoplasm of the ovary" EXACT [NCIT:C8431] synonym: "serous tumor of ovary" EXACT [NCIT:C8431] synonym: "serous tumor of the ovary" EXACT [NCIT:C8431] synonym: "serous tumour of ovary" EXACT OMO:0003005 [] synonym: "serous tumour of the ovary" EXACT OMO:0003005 [] xref: NCIT:C8431 {source="MONDO:equivalentTo"} xref: UMLS:C0476122 {source="NCIT:C8431", source="MONDO:equivalentTo"} is_a: MONDO:0002229 {source="MONDO:Redundant", source="NCIT:C8431"} ! ovarian epithelial tumor is_a: MONDO:0037256 {source="MONDO:Redundant", source="NCIT:C8431"} ! serous neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0476122 property_value: exactMatch NCIT:C8431 [Term] id: MONDO:0037256 name: serous neoplasm synonym: "serous neoplasm" EXACT [NCIT:C7074] xref: NCIT:C7074 {source="MONDO:equivalentTo"} xref: UMLS:C1335951 {source="MONDO:equivalentTo", source="NCIT:C7074"} is_a: MONDO:0024276 {source="NCIT:C7074"} ! glandular cell neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335951 property_value: exactMatch NCIT:C7074 [Term] id: MONDO:0037735 name: sebaceous gland cancer def: "A cancer that involves the sebaceous gland." [MONDO:patterns/location] synonym: "cancer of sebaceous gland" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of sebaceous gland" EXACT [MONDO:patterns/cancer, NCIT:C8409] synonym: "malignant neoplasm of the sebaceous gland" EXACT [NCIT:C8409] synonym: "malignant sebaceous gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C8409] synonym: "malignant sebaceous gland tumor" EXACT [NCIT:C8409] synonym: "malignant sebaceous gland tumour" EXACT OMO:0003005 [] synonym: "malignant sebaceous neoplasm" EXACT [NCIT:C8409] synonym: "malignant sebaceous tumor" EXACT [NCIT:C8409] synonym: "malignant sebaceous tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of sebaceous gland" EXACT [NCIT:C8409] synonym: "malignant tumor of the sebaceous gland" EXACT [NCIT:C8409] synonym: "malignant tumour of sebaceous gland" EXACT OMO:0003005 [] synonym: "malignant tumour of the sebaceous gland" EXACT OMO:0003005 [] xref: NCIT:C8409 {source="MONDO:equivalentTo"} xref: UMLS:C1382026 {source="MONDO:equivalentTo", source="NCIT:C8409"} is_a: EFO:1001172 {source="MONDO:Redundant", source="NCIT:C8409"} ! sebaceous gland neoplasm is_a: MONDO:0002898 ! skin cancer property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1382026 property_value: exactMatch NCIT:C8409 [Term] id: MONDO:0037736 name: infratentorial neoplasm def: "A benign or malignant neoplasm that occurs in brain parenchymal tissue below the tentorium cerebelli." [NCIT:C3139] synonym: "brain neoplasms, infratentorial" EXACT [NCIT:C3139] synonym: "infratentorial neoplasm" EXACT [NCIT:C3139] synonym: "infratentorial neoplasms" EXACT [NCIT:C3139] synonym: "infratentorial tumor" EXACT [NCIT:C3139] synonym: "infratentorial tumors" EXACT [NCIT:C3139] synonym: "infratentorial tumour" EXACT OMO:0003005 [] synonym: "infratentorial tumours" EXACT OMO:0003005 [] synonym: "neoplasms, infratentorial" EXACT [NCIT:C3139] xref: NCIT:C3139 {source="MONDO:equivalentTo"} is_a: EFO:0003833 {source="NCIT:C3139"} ! brain neoplasm property_value: exactMatch NCIT:C3139 [Term] id: MONDO:0037737 name: peritoneal solitary fibrous tumor def: "A rare, usually benign fibroblastic neoplasm that arises from the peritoneum. It is characterized by the presence of prominent hemangiopericytoma-like vessels." [NCIT:C126357] synonym: "peritoneal solitary fibrous tumor" EXACT [NCIT:C126357] xref: NCIT:C126357 {source="MONDO:equivalentTo"} xref: UMLS:C4288403 {source="MONDO:equivalentTo"} is_a: EFO:1001100 {source="MONDO:Redundant", source="NCIT:C126357"} ! peritoneal neoplasm is_a: MONDO:0016238 {source="MONDO:Redundant", source="NCIT:C126357"} ! solitary fibrous tumor property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4288403 property_value: exactMatch NCIT:C126357 [Term] id: MONDO:0037740 name: malignant central nervous system mesenchymal, non-meningothelial neoplasm def: "A metastasizing mesenchymal, non-meningothelial neoplasm that arises from the central nervous system." [NCIT:C6758] synonym: "central nervous system mesenchymal non-meningothelial tumor, malignant" EXACT [MONDO:patterns/malignant] synonym: "malignant central nervous system mesenchymal non-meningothelial tumor" EXACT [] synonym: "malignant central nervous system mesenchymal non-meningothelial tumour" EXACT OMO:0003005 [] synonym: "malignant central nervous system mesenchymal, non-meningothelial neoplasm" EXACT [NCIT:C6758] synonym: "malignant central nervous system mesenchymal, non-meningothelial tumor" EXACT [NCIT:C6758] synonym: "malignant central nervous system mesenchymal, non-meningothelial tumour" EXACT OMO:0003005 [] synonym: "malignant central nervous system soft tissue neoplasm" EXACT [NCIT:C6758] synonym: "malignant central nervous system soft tissue tumor" EXACT [NCIT:C6758] synonym: "malignant central nervous system soft tissue tumour" EXACT OMO:0003005 [] synonym: "malignant CNS soft tissue neoplasm" EXACT [NCIT:C6758] synonym: "malignant CNS soft tissue tumor" EXACT [NCIT:C6758] synonym: "malignant CNS soft tissue tumour" EXACT OMO:0003005 [] synonym: "malignant soft tissue neoplasm of central nervous system" EXACT [NCIT:C6758] synonym: "malignant soft tissue neoplasm of CNS" EXACT [NCIT:C6758] synonym: "malignant soft tissue neoplasm of the central nervous system" EXACT [NCIT:C6758] synonym: "malignant soft tissue neoplasm of the CNS" EXACT [NCIT:C6758] synonym: "malignant soft tissue tumor of central nervous system" EXACT [NCIT:C6758] synonym: "malignant soft tissue tumor of CNS" EXACT [NCIT:C6758] synonym: "malignant soft tissue tumor of the central nervous system" EXACT [NCIT:C6758] synonym: "malignant soft tissue tumor of the CNS" EXACT [NCIT:C6758] synonym: "malignant soft tissue tumour of central nervous system" EXACT OMO:0003005 [] synonym: "malignant soft tissue tumour of CNS" EXACT OMO:0003005 [] synonym: "malignant soft tissue tumour of the central nervous system" EXACT OMO:0003005 [] synonym: "malignant soft tissue tumour of the CNS" EXACT OMO:0003005 [] synonym: "soft tissue cancer of central nervous system" EXACT [NCIT:C6758] synonym: "soft tissue cancer of the central nervous system" EXACT [NCIT:C6758] xref: NCIT:C6758 {source="MONDO:equivalentTo"} xref: UMLS:C1334571 {source="MONDO:equivalentTo", source="NCIT:C6758"} is_a: EFO:0000326 {source="NCIT:C6758"} ! central nervous system cancer is_a: MONDO:0003244 {source="MONDO:Redundant", source="NCIT:C6758"} ! central nervous system mesenchymal non-meningothelial tumor is_a: MONDO:0024637 {source="NCIT:C6758"} ! malignant soft tissue neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334571 property_value: exactMatch NCIT:C6758 [Term] id: MONDO:0037743 name: mediastinal soft tissue cancer def: "A malignant neoplasm that arises from the soft tissues of the mediastinum." [NCIT:C6642] synonym: "malignant mediastinal mesenchymal tumor" EXACT [] synonym: "malignant mediastinal mesenchymal tumour" EXACT OMO:0003005 [] synonym: "malignant mediastinal soft tissue neoplasm" EXACT [NCIT:C6642] synonym: "malignant mediastinal soft tissue tumor" EXACT [NCIT:C6642] synonym: "malignant mediastinal soft tissue tumour" EXACT OMO:0003005 [] synonym: "malignant soft tissue neoplasm of mediastinum" EXACT [NCIT:C6642] synonym: "malignant soft tissue neoplasm of the mediastinum" EXACT [NCIT:C6642] synonym: "malignant soft tissue tumor of mediastinum" EXACT [NCIT:C6642] synonym: "malignant soft tissue tumor of the mediastinum" EXACT [NCIT:C6642] synonym: "malignant soft tissue tumour of mediastinum" EXACT OMO:0003005 [] synonym: "malignant soft tissue tumour of the mediastinum" EXACT OMO:0003005 [] synonym: "mediastinal mesenchymal tumor, malignant" EXACT [MONDO:patterns/malignant] xref: NCIT:C6642 {source="MONDO:equivalentTo"} xref: UMLS:C1334599 {source="MONDO:equivalentTo", source="NCIT:C6642"} is_a: EFO:0007362 {source="MONDO:Redundant", source="NCIT:C6642"} ! mediastinal cancer is_a: MONDO:0003512 {source="MONDO:Redundant", source="NCIT:C6642"} ! mediastinal mesenchymal tumor is_a: MONDO:0024637 {source="NCIT:C6642"} ! malignant soft tissue neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334599 property_value: exactMatch NCIT:C6642 [Term] id: MONDO:0037745 name: fibromyxoid tumor def: "A soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle-shaped to round cells in a fibromyxoid stroma. Metaplastic bone formation may or may not be present." [NCIT:C66760] synonym: "fibromyxoid neoplasm" EXACT [NCIT:C66760] synonym: "fibromyxoid tumor" EXACT [NCIT:C66760] synonym: "fibromyxoma" EXACT [NCIT:C66760] synonym: "fibromyxoma, benign" EXACT [NCIT:C66760] xref: ICDO:8811/0 {source="NCIT:C66760"} xref: NCIT:C66760 {source="MONDO:equivalentTo"} is_a: EFO:1000541 {source="NCIT:C66760/inferred", source="NCIT:C7148"} ! Soft Tissue Neoplasm property_value: exactMatch NCIT:C66760 [Term] id: MONDO:0037746 name: malignant vaginal mixed epithelial and mesenchymal neoplasm def: "A malignant neoplasm that arises from the vagina and is characterized by the presence of an epithelial and a mesenchymal component. This category includes adenosarcoma, carcinosarcoma, and malignant mixed tumor resembling synovial sarcoma." [NCIT:C40276] synonym: "malignant vaginal mixed epithelial and mesenchymal neoplasm" EXACT [NCIT:C40276] synonym: "malignant vaginal mixed epithelial and mesenchymal tumor" EXACT [NCIT:C40276] synonym: "malignant vaginal mixed epithelial and mesenchymal tumour" EXACT OMO:0003005 [] xref: NCIT:C40276 {source="MONDO:equivalentTo"} xref: UMLS:C1512974 {source="MONDO:equivalentTo", source="NCIT:C40276"} is_a: EFO:1000356 {source="NCIT:C40276"} ! Malignant Mixed Neoplasm is_a: MONDO:0001402 {source="NCIT:C40276"} ! vaginal cancer property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1512974 property_value: exactMatch NCIT:C40276 [Term] id: MONDO:0037747 name: spinal injury def: "A injury that involves the vertebral column." [MONDO:patterns/location] synonym: "injury of vertebral column" EXACT [] synonym: "vertebral column injury" EXACT [MONDO:patterns/location] xref: MESH:D013124 {source="MONDO:equivalentTo"} xref: SCTID:262521009 {source="MONDO:equivalentTo"} is_a: EFO:0000546 ! injury property_value: exactMatch http://identifiers.org/mesh/D013124 property_value: exactMatch http://identifiers.org/snomedct/262521009 [Term] id: MONDO:0037748 name: hyperlipoproteinemia def: "An elevated concentration of lipoproteins." [NCIT:C34709] synonym: "hyperlipoproteinemia" EXACT [NCIT:C34709] xref: HP:0010980 {source="MONDO:otherHierarchy"} xref: MESH:D006951 {source="MONDO:equivalentTo"} xref: NCIT:C34709 {source="MONDO:equivalentTo"} xref: UMLS:C0020476 {source="NCIT:C34709", source="MONDO:equivalentTo"} is_a: EFO:0000589 {source="MONDO:Redundant", source="NCIT:C34709"} ! metabolic disease property_value: exactMatch http://identifiers.org/mesh/D006951 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020476 property_value: exactMatch NCIT:C34709 [Term] id: MONDO:0037792 name: carbohydrate metabolism disease def: "A disease that has its basis in the disruption of carbohydrate metabolic process." [MONDO:patterns/basis_in_disruption_of_process] synonym: "carbohydrate metabolic process disease" EXACT [MONDO:design_pattern] synonym: "disorder of carbohydrate metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "disorder of carbohydrate metabolism" EXACT [] xref: SCTID:20957000 {source="MONDO:equivalentTo"} is_a: EFO:0000589 {source="MONDO:Redundant"} ! metabolic disease property_value: exactMatch http://identifiers.org/snomedct/20957000 [Term] id: MONDO:0037807 name: glycerol metabolism disease def: "A disease that has its basis in the disruption of glycerol metabolic process." [MONDO:patterns/basis_in_disruption_of_process] synonym: "disorder of glycerol metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "disorder of glycerol metabolism" EXACT [] synonym: "glycerol metabolic process disease" EXACT [MONDO:design_pattern] xref: SCTID:237977000 {source="MONDO:equivalentTo"} xref: UMLS:C0342762 {source="MONDO:equivalentTo"} is_a: MONDO:0037792 ! carbohydrate metabolism disease property_value: exactMatch http://identifiers.org/snomedct/237977000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342762 [Term] id: MONDO:0037821 name: porphyrin metabolism disease def: "A disease that has its basis in the disruption of porphyrin-containing compound metabolic process." [MONDO:patterns/basis_in_disruption_of_process] synonym: "disorder of porphyrin and heme metabolism" RELATED [] synonym: "disorder of porphyrin metabolism" EXACT [] synonym: "disorder of porphyrin-containing compound metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "porphyrin-containing compound metabolic process disease" EXACT [MONDO:design_pattern] xref: SCTID:29094004 {source="MONDO:equivalentTo"} is_a: EFO:0000589 {source="MONDO:Redundant"} ! metabolic disease property_value: exactMatch http://identifiers.org/snomedct/29094004 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0037829 name: purine metabolism disease def: "A disease that has its basis in the disruption of purine nucleobase metabolic process." [MONDO:patterns/basis_in_disruption_of_process] synonym: "disorder of purine metabolism" EXACT [] synonym: "disorder of purine nucleobase metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "purine nucleobase metabolic process disease" EXACT [MONDO:design_pattern] xref: SCTID:32612005 {source="MONDO:equivalentTo"} xref: UMLS:C0268104 {source="MONDO:equivalentTo"} is_a: EFO:0000589 {source="https://orcid.org/0000-0001-5208-3432"} ! metabolic disease property_value: exactMatch http://identifiers.org/snomedct/32612005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268104 [Term] id: MONDO:0037858 name: inherited fatty acid metabolism disorder def: "A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources." [NCIT:C117115] synonym: "disorder of fat oxidation" RELATED [] synonym: "disorder of fatty acid metabolism" EXACT [] synonym: "disorders of fatty-acid metabolism" RELATED [] synonym: "fatty acid metabolism disorder" EXACT [NCIT:C117115] synonym: "inherited fatty acid metabolism disorder" EXACT [] xref: NCIT:C117115 {source="MONDO:equivalentTo"} xref: SCTID:39929009 {source="MONDO:equivalentTo"} is_a: MONDO:0000688 ! inborn organic aciduria is_a: MONDO:0002525 {source="NCIT:C117115"} ! inherited lipid metabolism disorder is_a: MONDO:0019189 ! inborn disorder of amino acid and other organic acid metabolism property_value: exactMatch http://identifiers.org/snomedct/39929009 property_value: exactMatch NCIT:C117115 [Term] id: MONDO:0037870 name: valine metabolism disease def: "A disease that has its basis in the disruption of valine metabolic process." [MONDO:design_pattern] synonym: "disorder of valine metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "disorder of valine metabolism" EXACT [] synonym: "valine metabolic process disease" EXACT [MONDO:design_pattern] xref: SCTID:444756000 {source="MONDO:equivalentTo"} xref: UMLS:C2919304 {source="MONDO:equivalentTo"} is_a: MONDO:0037871 ! amino acid metabolism disease property_value: exactMatch http://identifiers.org/snomedct/444756000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2919304 [Term] id: MONDO:0037871 name: amino acid metabolism disease def: "A disease that has its basis in the disruption of cellular amino acid metabolic process." [MONDO:patterns/basis_in_disruption_of_process] synonym: "amino acid disorder" RELATED [] synonym: "amino acid metabolism disorder" EXACT [NCIT:C97090] synonym: "amino acidopathy" RELATED [] synonym: "cellular amino acid metabolic process disease" EXACT [MONDO:design_pattern] synonym: "disorder of amino acid metabolism" EXACT [] synonym: "disorder of cellular amino acid metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] xref: NCIT:C97090 {source="MONDO:equivalentTo"} xref: SCTID:44779003 {source="MONDO:equivalentTo"} is_a: MONDO:0045022 ! disorder of organic acid metabolism property_value: exactMatch http://identifiers.org/snomedct/44779003 property_value: exactMatch NCIT:C97090 [Term] id: MONDO:0037872 name: bordetellosis def: "Any disease caused by infection with organisms of the genus Bordetella." [https://doi.org/10.1086/589713] comment: B. bronchiseptica infects a wide range of mammals (including humans), whereas B. pertussis infects only humans and, under experimental conditions, mice and pigs. In contrast, B. parapertussis, also a causative agent of pertussis, displays a unique host specificity with 2 subgroups, one infecting only humans and the other infecting only sheep. {source="https://doi.org/10.1086/589713]"} synonym: "Bordetella caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Bordetella disease or disorder" EXACT [] synonym: "Bordetella Infection" RELATED [MESH:D001885] synonym: "Bordetella infection" RELATED [UMLS:C0006015] synonym: "Bordetella Infections" RELATED [MESH:D001885] synonym: "Bordetella infectious disease" EXACT [] synonym: "Bordetellosis" RELATED [UMLS:C0006015] synonym: "bordetellosis" EXACT [] synonym: "INFECT BORDETELLA" RELATED [MESH:D001885] synonym: "Infection, Bordetella" RELATED [MESH:D001885] synonym: "Infections, Bordetella" RELATED [MESH:D001885] xref: EFO:1001275 {source="MONDO:equivalentTo"} xref: ICD9:041.85 xref: MESH:D001885 {source="UMLS:C0006015", source="MONDO:equivalentTo"} xref: SCTID:26484003 {source="UMLS:C0006015", source="MONDO:equivalentTo"} xref: UMLS:C0006015 {source="MONDO:equivalentTo"} is_a: MONDO:0021678 {source="MESH:D001885"} ! gram-negative bacterial infections property_value: exactMatch http://identifiers.org/mesh/D001885 property_value: exactMatch http://identifiers.org/snomedct/26484003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006015 [Term] id: MONDO:0037937 name: pyrimidine metabolism disease def: "A disease that has its basis in the disruption of pyrimidine nucleobase metabolic process." [MONDO:patterns/basis_in_disruption_of_process] synonym: "disorder of pyrimidine metabolism" EXACT [] synonym: "disorder of pyrimidine nucleobase metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "pyrimidine nucleobase metabolic process disease" EXACT [MONDO:design_pattern] xref: SCTID:85444005 {source="MONDO:equivalentTo"} xref: UMLS:C0268127 {source="MONDO:equivalentTo"} is_a: EFO:0000589 {source="MONDO:Redundant"} ! metabolic disease property_value: exactMatch http://identifiers.org/snomedct/85444005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268127 [Term] id: MONDO:0037938 name: inborn disorder of aspartate family metabolism def: "An inherited metabolic disease that is has its basis in the disruption of aspartate family amino acid metabolic process." [MONDO:patterns/inborn_metabolic] synonym: "inborn aspartate family amino acid metabolic process disorder" EXACT [] synonym: "inborn error of aspartate family amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "rare inborn error of aspartate family amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] is_a: MONDO:0019189 ! inborn disorder of amino acid and other organic acid metabolism is_a: MONDO:0037871 ! amino acid metabolism disease [Term] id: MONDO:0037939 name: porphyria def: "Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. Most types are inherited, but porphyria cutanea tarda may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS." [MONDO:cjm, Wikipedia:Porphyria] comment: Represents both genetic and sporadic forms synonym: "porphyria" EXACT [] xref: SCTID:418470004 {source="MONDO:equivalentTo"} is_a: MONDO:0037821 ! porphyrin metabolism disease property_value: exactMatch http://identifiers.org/snomedct/418470004 [Term] id: MONDO:0037940 name: inherited auditory system disease def: "An instance of auditory system disease that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] synonym: "auditory system hereditary disorder" EXACT [] synonym: "hereditary auditory system disease" EXACT [MONDO:patterns/hereditary] synonym: "inherited auditory system disease" EXACT [] xref: SCTID:362991006 {source="MONDO:equivalentTo"} xref: UMLS:C1285174 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:1001455 {source="MONDO:Redundant"} ! auditory system disease intersection_of: EFO:1001455 ! auditory system disease intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/snomedct/362991006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1285174 [Term] id: MONDO:0040500 name: glycosylphosphatidylinositol biosynthesis defect 16 synonym: "glycosylphosphatidylinositol biosynthesis defect 16" EXACT [OMIM:617816] synonym: "GPIBD16" RELATED ABBREVIATION [OMIM:617816] synonym: "intellectual disability, autosomal recessive 62" RELATED [OMIM:617816] synonym: "mental retardation, autosomal recessive 62" RELATED DEPRECATED [OMIM:617816] xref: DOID:0081223 {source="MONDO:equivalentTo"} xref: OMIM:617816 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0002525 ! inherited lipid metabolism disorder is_a: MONDO:0015286 ! congenital disorder of glycosylation is_a: MONDO:0019502 {source="OMIM:617816"} ! autosomal recessive non-syndromic intellectual disability is_a: MONDO:0024321 ! disorder of GPI anchor biosynthesis property_value: exactMatch DOID:0081223 property_value: exactMatch https://omim.org/entry/617816 [Term] id: MONDO:0040566 name: inherited glutathione metabolism disease def: "An inherited metabolic disease that is has its basis in the disruption of glutathione metabolic process." [MONDO:patterns/inborn_metabolic] synonym: "disorder of glutathione metabolism" EXACT [PMID:33340416] synonym: "glutathione metabolism disorder, inherited" EXACT [] synonym: "inborn error of glutathione metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn error of glutathione metabolism" EXACT [] synonym: "inborn glutathione metabolic process disorder" EXACT [] synonym: "rare inborn error of glutathione metabolic process" EXACT [MONDO:patterns/inborn_metabolic] xref: SCTID:72262000 {source="MONDO:equivalentTo"} xref: UMLS:C0268518 {source="MONDO:equivalentTo"} is_a: MONDO:0019241 ! inborn disorder of the gamma-glutamyl cycle is_a: MONDO:0100473 {source="PMID:33340416"} ! disorder of peptide and amine metabolism property_value: exactMatch http://identifiers.org/snomedct/72262000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268518 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0040653 name: autosomal recessive ocular albinism def: "Autosomal recessive form of ocular albinism (disease)." [MONDO:patterns/autosomal_recessive] synonym: "AROA" RELATED ABBREVIATION [] synonym: "autosomal recessive ocular albinism" EXACT [] synonym: "autosomal recessive ocular albinism (disease)" EXACT [] synonym: "ocular albinism (disease), autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] xref: SCTID:78921008 {source="MONDO:equivalentTo"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0017304 ! ocular albinism property_value: exactMatch http://identifiers.org/snomedct/78921008 [Term] id: MONDO:0040675 name: myofibroblastoma def: "A benign, well circumscribed soft tissue neoplasm characterized by the presence of spindle shaped myofibroblasts and mast cells in a collagenous stroma." [NCIT:C49012] synonym: "myofibroblastoma" EXACT [NCIT:C49012] xref: ICDO:8825/0 {source="NCIT:C49012"} xref: NCIT:C49012 {source="MONDO:equivalentTo"} is_a: EFO:1000255 {source="NCIT:C49012/inferred", source="NCIT:C7147"} ! Fibroblastic Neoplasm property_value: exactMatch NCIT:C49012 [Term] id: MONDO:0040677 name: invasive carcinoma def: "A carcinoma that is not confined to the epithelium, and has spread to the surrounding stroma." [NCIT:C9480] synonym: "invasive carcinoma" EXACT [NCIT:C9480] xref: NCIT:C9480 {source="MONDO:equivalentTo"} xref: UMLS:C1334274 {source="MONDO:equivalentTo", source="NCIT:C9480"} is_a: EFO:0000313 {source="MONDO:Redundant", source="NCIT:C9480"} ! carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334274 property_value: exactMatch NCIT:C9480 [Term] id: MONDO:0040678 name: infiltrating urothelial carcinoma def: "A invasive carcinoma that involves the urothelium." [MONDO:patterns/location] synonym: "infiltrating transitional cell carcinoma of the urinary tract" EXACT [NCIT:C39853] synonym: "infiltrating urothelial carcinoma" EXACT [NCIT:C39853] xref: NCIT:C39853 {source="MONDO:equivalentTo"} xref: UMLS:C1512751 {source="MONDO:equivalentTo", source="NCIT:C39853"} is_a: EFO:1000363 ! Malignant Urinary System Neoplasm is_a: MONDO:0024337 ! urothelial neoplasm is_a: MONDO:0040677 {source="MONDO:Redundant", source="NCIT:C39853"} ! invasive carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1512751 property_value: exactMatch NCIT:C39853 [Term] id: MONDO:0040732 name: Pseudomonas aeruginosa infectious disease synonym: "infection caused by Pseudomonas aeruginosa" RELATED [] synonym: "infection due to Pseudomonas aeruginosa" EXACT [] xref: SCTID:11218009 {source="MONDO:equivalentTo"} xref: UMLS:C0276075 {source="MONDO:equivalentTo"} is_a: EFO:0001076 {source="MONDO:Redundant"} ! Pseudomonas infection property_value: exactMatch http://identifiers.org/snomedct/11218009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0276075 [Term] id: MONDO:0040998 name: Pasteurella multocida infectious disease synonym: "infection by Pasteurella multocida" EXACT [] synonym: "infection caused by Pasteurella multocida" RELATED [] xref: SCTID:197718007 {source="MONDO:equivalentTo"} xref: UMLS:C1260911 {source="MONDO:equivalentTo"} is_a: EFO:0007424 {source="MONDO:Redundant"} ! pasteurellosis property_value: exactMatch http://identifiers.org/snomedct/197718007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1260911 [Term] id: MONDO:0041052 name: postherpetic neuralgia synonym: "PHN - post-herpetic neuralgia" RELATED [] synonym: "post-zoster neuralgia" RELATED [] synonym: "postherpetic neuralgia" EXACT [] xref: Orphanet:466673 {source="MONDO:equivalentObsolete"} xref: SCTID:2177002 {source="MONDO:equivalentTo"} xref: UMLS:C0032768 {source="MONDO:equivalentTo"} is_a: MONDO:0021677 ! post-infectious neuralgia property_value: exactMatch http://identifiers.org/snomedct/2177002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032768 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0041086 name: mixed anxiety and depressive disorder synonym: "anxiety depression" RELATED [] synonym: "mixed anxiety and depressive disorder" EXACT [] xref: SCTID:231504006 {source="MONDO:equivalentTo"} is_a: EFO:0006788 ! anxiety disorder is_a: MONDO:0002050 ! depressive disorder intersection_of: EFO:0006788 ! anxiety disorder intersection_of: MONDO:0002050 ! depressive disorder property_value: exactMatch http://identifiers.org/snomedct/231504006 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0041161 name: obsolete endometrial hyperplasia def: "OBSOLETE. A proliferation of the endometrial cells resulting in glandular enlargement and budding. The proliferation may or may not be associated with atypia of the endometrial cells. When the hyperplastic changes are excessive, there is formation of complex epithelial structures (complex endometrial hyperplasia)." [NCIT:C3013] synonym: "endometrial hyperplasia" EXACT [] synonym: "hyperplasia of endometrium" EXACT [NCIT:C3013] synonym: "hyperplasia of the endometrium" EXACT [NCIT:C3013] xref: DOID:0080365 {source="MONDO:obsoleteEquivalent"} xref: HP:0040298 {source="MONDO:otherHierarchy"} xref: MESH:D004714 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:obsoleteEquivalent"} xref: NCIT:C3013 {source="MONDO:obsoleteEquivalent"} xref: SCTID:237072009 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0014173 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch DOID:0080365 property_value: exactMatch http://identifiers.org/mesh/D004714 property_value: exactMatch http://identifiers.org/snomedct/237072009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014173 property_value: exactMatch NCIT:C3013 property_value: gwas:trait "true" xsd:boolean property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3811 xsd:anyURI is_obsolete: true consider: HP:0040298 [Term] id: MONDO:0041182 name: polymorphic light eruption synonym: "polymorphic light eruption" EXACT [] synonym: "polymorphic photodermatitis" RELATED [] synonym: "polymorphous light eruption" EXACT [] xref: SCTID:238525001 {source="MONDO:equivalentTo"} xref: UMLS:C0031736 {source="MONDO:equivalentTo"} is_a: EFO:1000752 ! photosensitivity disease property_value: exactMatch http://identifiers.org/snomedct/238525001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031736 [Term] id: MONDO:0041261 name: disorder of acid-base balance synonym: "disorder of acid-base balance" EXACT [] synonym: "disturbance of acid-base balance" RELATED [] xref: SCTID:26436007 {source="MONDO:equivalentTo"} xref: UMLS:C0268029 {source="MONDO:equivalentTo"} is_a: EFO:0000589 ! metabolic disease property_value: exactMatch http://identifiers.org/snomedct/26436007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268029 [Term] id: MONDO:0041447 name: metastatic malignant neoplasm in the colon def: "The spread of a malignant neoplasm to the colon. This may be from a primary large intestine malignant neoplasm, or from a malignant neoplasm at a distant site." [NCIT:C8411] synonym: "metastatic malignant neoplasm in the colon" EXACT [NCIT:C8411] synonym: "metastatic malignant neoplasm to the colon" EXACT [NCIT:C8411] synonym: "metastatic neoplasm to the colon" EXACT [NCIT:C8411] synonym: "metastatic tumor to the colon" EXACT [NCIT:C8411] synonym: "metastatic tumour to the colon" EXACT OMO:0003005 [] xref: NCIT:C8411 {source="MONDO:equivalentTo"} xref: UMLS:C0346974 {source="NCIT:C8411", source="MONDO:equivalentTo"} is_a: MONDO:0024880 {source="MONDO:Redundant", source="NCIT:C4581", source="NCIT:C8411/inferred"} ! metastatic malignant neoplasm intersection_of: MONDO:0024880 ! metastatic malignant neoplasm intersection_of: disease_arises_from_feature MONDO:0021063 ! malignant colon neoplasm relationship: disease_arises_from_feature MONDO:0021063 ! malignant colon neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346974 property_value: exactMatch NCIT:C8411 property_value: excluded_subClassOf MONDO:0021063 {source="NCIT:C8411"} [Term] id: MONDO:0041806 name: drug-resistant tuberculosis def: "Tuberculosis disease caused by Mycobacterium tuberculosis isolate that is resistant to one or more of the antitubercular medications." [https://orcid.org/0000-0002-6670-9157, PMID:24809736] synonym: "drug resistant tuberculosis" EXACT [] xref: SCTID:423709000 {source="MONDO:equivalentTo"} is_a: MONDO:0018076 {source="https://orcid.org/0000-0001-5208-3432"} ! tuberculosis property_value: exactMatch http://identifiers.org/snomedct/423709000 [Term] id: MONDO:0041825 name: bacterial meningitis caused by gram-negative bacteria synonym: "bacterial meningitis caused by gram-negative bacteria" EXACT [] synonym: "bacterial meningitis due to gram-negative bacteria" EXACT [] synonym: "gram-negative bacterial meningitis" RELATED [] synonym: "meningitis with gram negative bacteria" RELATED [] synonym: "meningitis with gramme negative bacteria" RELATED OMO:0003005 [] xref: SCTID:425887005 {source="MONDO:equivalentTo"} xref: UMLS:C0854215 {source="MONDO:equivalentTo"} is_a: EFO:1000831 ! bacterial meningitis is_a: MONDO:0021678 ! gram-negative bacterial infections intersection_of: EFO:1000831 ! bacterial meningitis intersection_of: MONDO:0021678 ! gram-negative bacterial infections property_value: exactMatch http://identifiers.org/snomedct/425887005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0854215 [Term] id: MONDO:0041850 name: pneumonia caused by gram negative bacteria synonym: "gram negative pneumonia" RELATED [] synonym: "gramme negative pneumonia" RELATED OMO:0003005 [] synonym: "pneumonia caused by gram negative bacteria" EXACT [] synonym: "pneumonia caused by gram-negative bacteria" RELATED [] synonym: "pneumonia due to gram negative bacteria" EXACT [] synonym: "pneumonia due to gram-negative bacteria" RELATED [] synonym: "pneumonia due to gramme negative bacteria" EXACT OMO:0003005 [] xref: SCTID:430395005 {source="MONDO:equivalentTo"} xref: UMLS:C0854248 {source="MONDO:equivalentTo"} is_a: EFO:1001272 ! bacterial pneumonia is_a: MONDO:0021678 ! gram-negative bacterial infections intersection_of: EFO:1001272 ! bacterial pneumonia intersection_of: MONDO:0021678 ! gram-negative bacterial infections property_value: exactMatch http://identifiers.org/snomedct/430395005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0854248 [Term] id: MONDO:0042233 name: disseminated candidiasis def: "Systemic candidiasis occurs when Candida yeast enters the bloodstream and may spread (becoming disseminated candidiasis) to other organs, including the central nervous system, kidneys, liver, bones, muscles, joints, spleen, or eyes." [Wikipedia:Candidiasis] subset: gard_rare synonym: "disseminated candida" RELATED [] synonym: "disseminated candidiasis" EXACT [] synonym: "disseminated candidosis" RELATED [] synonym: "invasive candidiasis" RELATED [] synonym: "systemic candida infections" RELATED [GARD:0001076] synonym: "systemic candidiasis" RELATED [] xref: NCIT:C116812 {source="MONDO:equivalentTo"} xref: SCTID:70572005 {source="MONDO:equivalentTo"} is_a: MONDO:0002026 {source="MONDO:Redundant", source="NCIT:C116812"} ! candidiasis is_a: MONDO:0045033 ! opportunistic systemic mycosis intersection_of: MONDO:0002026 ! candidiasis intersection_of: has_characteristic MONDO:0022202 ! disseminated property_value: exactMatch http://identifiers.org/snomedct/70572005 property_value: exactMatch NCIT:C116812 [Term] id: MONDO:0042484 name: disseminated sporotrichosis synonym: "disseminated sporotrichosis" EXACT [] xref: SCTID:91051003 {source="MONDO:equivalentTo"} xref: UMLS:C0276725 {source="MONDO:equivalentTo"} is_a: EFO:0007494 {source="MONDO:Redundant"} ! sporotrichosis is_a: MONDO:0000256 ! systemic mycosis intersection_of: EFO:0007494 ! sporotrichosis intersection_of: has_characteristic MONDO:0022202 ! disseminated property_value: exactMatch http://identifiers.org/snomedct/91051003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0276725 [Term] id: MONDO:0042485 name: infective arthritis def: "The inflammation of one or more joints caused by any infectious pathogen within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint." [NCIT:C26700] synonym: "infective arthritis" EXACT [NCIT:C26700] synonym: "septic arthritis" RELATED [NCIT:C26700] xref: NCIT:C26700 {source="MONDO:equivalentTo"} is_a: EFO:0005741 ! infectious disease is_a: EFO:0005856 {source="MONDO:Redundant", source="NCIT:C26700"} ! arthritis property_value: exactMatch NCIT:C26700 [Term] id: MONDO:0042487 name: uterine cervix carcinoma in situ def: "Stage 0 includes: (Tis, N0, M0). Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.) - 2003" [NCIT:C4000] synonym: "carcinoma in situ of cervix" EXACT [DOID:8991] synonym: "carcinoma in situ of cervix aJCC v6" EXACT [NCIT:C4000] synonym: "carcinoma in situ of cervix uteri aJCC v6" EXACT [NCIT:C4000] synonym: "carcinoma in situ of the cervix aJCC v6" EXACT [NCIT:C4000] synonym: "carcinoma in situ of the cervix uteri aJCC v6" EXACT [NCIT:C4000] synonym: "carcinoma in situ of the uterine cervix aJCC v6" EXACT [NCIT:C4000] synonym: "carcinoma in situ of uterine cervix" EXACT [DOID:8991, MONDO:patterns/carcinoma_in_situ] synonym: "carcinoma in situ of uterine cervix aJCC v6" EXACT [NCIT:C4000] synonym: "carcinoma of cervix stage 0" EXACT [DOID:8991] synonym: "cervical cancer stage 0 aJCC v6" EXACT [NCIT:C4000] synonym: "cervical carcinoma in situ aJCC v6" EXACT [NCIT:C4000] synonym: "cervical intraepithelial neoplasia grade 3 aJCC v6" EXACT [NCIT:C4000] synonym: "cervical intraepithelial neoplasia grade III with severe dysplasia" EXACT [DOID:8991] synonym: "cervical Severe dysplasia aJCC v6" EXACT [NCIT:C4000] synonym: "cervix Ca in situ" EXACT [DOID:8991] synonym: "cervix carcinoma in situ aJCC v6" EXACT [NCIT:C4000] synonym: "cervix intraepithelial neoplasia grade 3 aJCC v6" EXACT [NCIT:C4000] synonym: "cervix Severe dysplasia aJCC v6" EXACT [NCIT:C4000] synonym: "cervix uteri carcinoma in situ" RELATED [DOID:8991] synonym: "cervix uteri carcinoma in situ aJCC v6" EXACT [NCIT:C4000] synonym: "cervix uteri intraepithelial neoplasia grade 3 aJCC v6" EXACT [NCIT:C4000] synonym: "cervix uteri Severe dysplasia aJCC v6" EXACT [NCIT:C4000] synonym: "CIN 3 aJCC v6" EXACT [NCIT:C4000] synonym: "CIN grade 3 aJCC v6" EXACT [NCIT:C4000] synonym: "CIN III" EXACT [DOID:8991] synonym: "CIN III - carcinoma in situ of cervix" EXACT [DOID:8991] synonym: "CIN III - severe dyskaryosis" EXACT [DOID:8991] synonym: "FIGO stage 0 carcinoma of cervix" EXACT [NCIT:C4000] synonym: "FIGO stage 0 carcinoma of cervix uteri" EXACT [NCIT:C4000] synonym: "FIGO stage 0 carcinoma of the cervix" EXACT [NCIT:C4000] synonym: "FIGO stage 0 carcinoma of the cervix uteri" EXACT [NCIT:C4000] synonym: "FIGO stage 0 carcinoma of the uterine cervix" EXACT [NCIT:C4000] synonym: "FIGO stage 0 carcinoma of uterine cervix" EXACT [NCIT:C4000] synonym: "FIGO stage 0 cervical carcinoma" EXACT [NCIT:C4000] synonym: "FIGO stage 0 cervix carcinoma" EXACT [NCIT:C4000] synonym: "FIGO stage 0 cervix uteri carcinoma" EXACT [NCIT:C4000] synonym: "FIGO stage 0 uterine cervix carcinoma" EXACT [NCIT:C4000] synonym: "grade 3 cervical intraepithelial neoplasia aJCC v6" EXACT [NCIT:C4000] synonym: "intraepithelial neoplasia of cervix grade 3 aJCC v6" EXACT [NCIT:C4000] synonym: "intraepithelial neoplasia of cervix uteri grade 3 aJCC v6" EXACT [NCIT:C4000] synonym: "intraepithelial neoplasia of the cervix grade 3 aJCC v6" EXACT [NCIT:C4000] synonym: "intraepithelial neoplasia of the cervix uteri grade 3 aJCC v6" EXACT [NCIT:C4000] synonym: "intraepithelial neoplasia of the uterine cervix grade 3 aJCC v6" EXACT [NCIT:C4000] synonym: "intraepithelial neoplasia of uterine cervix grade 3 aJCC v6" EXACT [NCIT:C4000] synonym: "severe cervical dysplasia aJCC v6" EXACT [NCIT:C4000] synonym: "severe dysplasia of cervix" EXACT [DOID:8991] synonym: "severe dysplasia of cervix aJCC v6" EXACT [NCIT:C4000] synonym: "severe dysplasia of cervix uteri aJCC v6" EXACT [NCIT:C4000] synonym: "severe dysplasia of the cervix aJCC v6" EXACT [NCIT:C4000] synonym: "severe dysplasia of the cervix uteri aJCC v6" EXACT [NCIT:C4000] synonym: "severe dysplasia of the uterine cervix aJCC v6" EXACT [NCIT:C4000] synonym: "severe dysplasia of uterine cervix aJCC v6" EXACT [NCIT:C4000] synonym: "squamous intraepithelial neoplasia, grade III" EXACT [DOID:8991] synonym: "stage 0 cervical cancer" EXACT [NCIT:C4000] synonym: "stage 0 cervical cancer aJCC v6" EXACT [NCIT:C4000] synonym: "stage 0 uterine cervix carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ] synonym: "uterine cervix carcinoma in situ aJCC v6" EXACT [NCIT:C4000] synonym: "uterine cervix intraepithelial neoplasia grade 3 aJCC v6" EXACT [NCIT:C4000] synonym: "uterine cervix Severe dysplasia aJCC v6" EXACT [NCIT:C4000] xref: DOID:8991 {source="MONDO:equivalentTo"} xref: ICD9:233.1 {source="DOID:8991"} xref: MESH:D018290 {source="MONDO:equivalentTo", source="DOID:8991"} xref: NCIT:C4000 {source="MONDO:equivalentTo", source="DOID:8991"} xref: SCTID:254889004 {source="MONDO:equivalentTo", source="DOID:8991"} xref: UMLS:C0851140 {source="NCIT:C4000", source="MONDO:equivalentTo", source="DOID:8991"} is_a: EFO:0001061 ! cervical carcinoma is_a: MONDO:0004710 ! uterus carcinoma in situ property_value: exactMatch DOID:8991 property_value: exactMatch http://identifiers.org/mesh/D018290 property_value: exactMatch http://identifiers.org/snomedct/254889004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0851140 property_value: exactMatch NCIT:C4000 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0042488 name: Cestode infectious disease def: "Infections with true tapeworms of the helminth subclass Cestoda." [MESH:D002590] synonym: "Bertielliases" RELATED [MESH:D002590] synonym: "Bertielliasis" RELATED [MESH:D002590] synonym: "Cenuriases" RELATED [MESH:D002590] synonym: "Cenuriasis" RELATED [MESH:D002590] synonym: "Cestoda caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Cestoda disease or disorder" EXACT [] synonym: "Cestoda infectious disease" EXACT [] synonym: "cestode infection" EXACT [MESH:D002590] synonym: "cestode infestation" RELATED [] synonym: "Cestodiasis" RELATED [] synonym: "Cestodosis" RELATED [] synonym: "Coenuriases" RELATED [MESH:D002590] synonym: "Coenuriasis" RELATED [MESH:D002590] synonym: "Dipylidiases" RELATED [MESH:D002590] synonym: "Dipylidiasis" RELATED [MESH:D002590] synonym: "disease due to Cestoda" RELATED [] synonym: "infection, cestode" RELATED [MESH:D002590] synonym: "infection, tapeworm" RELATED [MESH:D002590] synonym: "infections, cestode" RELATED [MESH:D002590] synonym: "infections, tapeworm" RELATED [MESH:D002590] synonym: "Raillietiniases" RELATED [MESH:D002590] synonym: "Raillietiniasis" RELATED [MESH:D002590] synonym: "tapeworm infection" RELATED [MESH:D002590] synonym: "tapeworm infections" RELATED [MESH:D002590] xref: EFO:1001287 {source="MONDO:equivalentTo"} xref: ICD9:123.8 xref: ICD9:123.9 xref: MESH:D002590 {source="MONDO:equivalentTo"} xref: SCTID:86133004 {source="MONDO:equivalentTo"} is_a: EFO:1001342 {source="MESH:D002590"} ! Helminthiasis property_value: exactMatch http://identifiers.org/mesh/D002590 property_value: exactMatch http://identifiers.org/snomedct/86133004 [Term] id: MONDO:0042489 name: disease susceptibility def: "A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases." [MESH:D004198] subset: predisposition synonym: "diatheses" RELATED [MESH:D004198] synonym: "diathesis" RELATED [MESH:D004198] synonym: "disease susceptibilities" RELATED [MESH:D004198] synonym: "susceptibilities, disease" RELATED [MESH:D004198] synonym: "susceptibility, disease" RELATED [MESH:D004198] xref: MESH:D004198 {source="MONDO:equivalentTo"} is_a: BFO:0000019 ! quality property_value: exactMatch http://identifiers.org/mesh/D004198 [Term] id: MONDO:0042490 name: neutropenia, severe congenital, 1, autosomal dominant synonym: "neutropenia, severe congenital 1, autosomal dominant" EXACT [OMIM:202700, OMIM:genemap2] synonym: "neutropenia, severe congenital, 1, autosomal dominant" EXACT [MESH:C565969] synonym: "SCN1" RELATED ABBREVIATION [MESH:C565969, OMIM:202700] xref: DOID:0080625 {source="MONDO:equivalentTo"} xref: MESH:C565969 {source="MONDO:equivalentTo"} xref: OMIM:202700 {source="MONDO:equivalentTo", source="MEDIC:C565969"} is_a: MONDO:0008742 ! autosomal dominant severe congenital neutropenia property_value: exactMatch DOID:0080625 property_value: exactMatch http://identifiers.org/mesh/C565969 property_value: exactMatch https://omim.org/entry/202700 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0042493 name: gastric non-hodgkin lymphoma def: "An extranodal non-Hodgkin lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue." [NCIT:C27235] subset: gard_rare synonym: "gastric non-Hodgkin lymphoma" EXACT [NCIT:C27235] synonym: "gastric non-Hodgkin's lymphoma" EXACT [NCIT:C27235] synonym: "lymphoma, gastric non Hodgkins type" RELATED [GARD:0000089] synonym: "non-Hodgkin lymphoma of stomach" EXACT [MONDO:design_pattern] synonym: "non-Hodgkin's lymphoma of stomach" EXACT [NCIT:C27235] synonym: "non-Hodgkin's lymphoma of the stomach" EXACT [NCIT:C27235] synonym: "non-Hodgkins gastric lymphoma" RELATED [GARD:0000089] synonym: "primary gastric non-Hodgkin's lymphoma" EXACT [NCIT:C27235] synonym: "stomach lymphoma, non-Hodgkins type" RELATED [GARD:0000089] synonym: "stomach non-Hodgkin lymphoma" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: NCIT:C27235 {source="MONDO:equivalentTo"} xref: SCTID:448709005 {source="MONDO:equivalentTo"} xref: UMLS:C1333784 {source="GARD:0000089", source="NCIT:C27235", source="MONDO:equivalentTo"} is_a: EFO:0005952 ! non-Hodgkins lymphoma is_a: MONDO:0001059 {source="MONDO:Redundant", source="NCIT:C27235"} ! gastric lymphoma property_value: exactMatch http://identifiers.org/snomedct/448709005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333784 property_value: exactMatch NCIT:C27235 [Term] id: MONDO:0042966 name: inherited mitral valve disease def: "An instance of mitral valve disease that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] synonym: "congenital anomaly of mitral valve" EXACT [] synonym: "congenital malformation of mitral valve" RELATED [] synonym: "congenital mitral valve abnormality" RELATED [] synonym: "hereditary mitral valve disease" EXACT [MONDO:patterns/hereditary] xref: SCTID:75372006 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0009557 {source="MONDO:Redundant"} ! mitral valve disease intersection_of: EFO:0009557 ! mitral valve disease intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/snomedct/75372006 [Term] id: MONDO:0042968 name: partial duplication of chromosome 12 is_a: MONDO:0000762 ! syndrome caused by partial chromosomal duplication is_a: MONDO:0700019 ! chromosome 12 disorder property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3492 xsd:anyURI [Term] id: MONDO:0042973 name: familial osteosclerosis def: "An instance of osteosclerosis that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: gard_rare synonym: "hereditary osteosclerosis" EXACT [MONDO:patterns/hereditary] is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0002933 ! osteosclerosis intersection_of: MONDO:0002933 ! osteosclerosis intersection_of: has_characteristic MONDO:0021152 ! inherited [Term] id: MONDO:0042976 name: vitamin B deficiency def: "A condition due to deficiency in any member of the vitamin B complex. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat." [MESH:D014804] synonym: "deficiencies, vitamin B" RELATED [MESH:D014804] synonym: "deficiency, vitamin B" RELATED [MESH:D014804] synonym: "vitamin B deficiencies" RELATED [MESH:D014804] xref: MESH:D014804 {source="MONDO:equivalentTo"} xref: NCIT:C35129 {source="MONDO:equivalentTo"} xref: SCTID:47903000 {source="MONDO:equivalentTo"} xref: UMLS:C0042850 {source="MONDO:equivalentTo"} is_a: MONDO:0024298 {source="MESH:D014804", source="NCIT:C35129"} ! vitamin deficiency disorder property_value: exactMatch http://identifiers.org/mesh/D014804 property_value: exactMatch http://identifiers.org/snomedct/47903000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042850 property_value: exactMatch NCIT:C35129 [Term] id: MONDO:0042979 name: hypokalemic periodic paralysis, type 1 synonym: "HOKPP1" RELATED ABBREVIATION [OMIM:170400] synonym: "hypokalemic periodic paralysis, type 1" EXACT [OMIM:170400] xref: OMIM:170400 {source="MONDO:equivalentTo"} xref: UMLS:C3714580 {source="OMIM:170400", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0008223 {source="OMIM:170400"} ! hypokalemic periodic paralysis property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3714580 property_value: exactMatch https://omim.org/entry/170400 [Term] id: MONDO:0042981 name: aortic valve stenosis def: "Aortic valve stenosis (AVS) is a condition characterized by narrowing of the heart's aortic valve opening. This narrowing prevents the valve from opening fully, which obstructs blood flow from the heart into the aorta, and onward to the rest of the body. AVS can range from mild to severe. Signs and symptoms typically develop when the narrowing of the opening is severe and may include chest pain (angina) or tightness; shortness of breath or fatigue (especially during exertion); feeling faint or fainting; heart palpitations; and heart murmur. Individuals with less severe congenital AVS (present at birth) may not develop symptoms until adulthood. Individuals with severe cases may faint without warning. AVS can have several causes including abnormal development before birth (such as having 1 or 2 valve leaflets instead of 3); calcium build-up on the valve in adulthood; and rheumatic fever." [GARD:0005830] subset: gard_rare synonym: "aortic stenosis" EXACT [DOID:1712, GARD:0005830, MONDO:0004978] synonym: "AS" EXACT ABBREVIATION [DOID:1712] synonym: "rheumatic aortic stenosis" NARROW [DOID:1712, ICD9CM:395.0] synonym: "rheumatic aortic valve stenosis" NARROW [DOID:1712] synonym: "stenosed aortic valve" RELATED [] synonym: "valvular aortic stenosis" RELATED [GARD:0005830] xref: DOID:1712 {source="EFO:0000266", source="MONDO:equivalentTo"} xref: EFO:0000266 {source="MONDO:equivalentTo"} xref: HP:0001650 {source="MONDO:otherHierarchy"} xref: ICD10CM:I06.0 {source="DOID:1712", source="MONDO:mondoIsBroaderThanSource"} xref: ICD9:395.0 {source="DOID:1712"} xref: ICD9:746.3 {source="MONDO:relatedTo", source="DOID:1712"} xref: MESH:D001024 {source="https://orcid.org/0000-0003-1967-3726", source="EFO:0000266", source="MONDO:equivalentTo", source="DOID:1712"} xref: NCIT:C50462 {source="EFO:0000266", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:1712"} xref: SCTID:18546004 {source="MONDO:relatedTo", source="DOID:1712"} xref: SCTID:60573004 {source="EFO:0000266", source="MONDO:equivalentTo", source="DOID:1712"} xref: SCTID:72011007 {source="DOID:1712", source="MONDO:mondoIsBroaderThanSource"} xref: UMLS:C0155567 {source="DOID:1712", source="MONDO:mondoIsBroaderThanSource"} is_a: EFO:0009531 {source="DOID:1712"} ! aortic valve disease is_a: MONDO:0020286 ! aortic malformation is_a: MONDO:0020293 ! ascending aorta anomaly property_value: exactMatch DOID:1712 property_value: exactMatch http://identifiers.org/mesh/D001024 property_value: exactMatch http://identifiers.org/snomedct/60573004 property_value: exactMatch NCIT:C50462 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4636 xsd:anyURI property_value: narrowMatch http://identifiers.org/snomedct/72011007 property_value: narrowMatch http://linkedlifedata.com/resource/umls/id/C0155567 property_value: narrowMatch http://purl.bioontology.org/ontology/ICD10CM/I06.0 [Term] id: MONDO:0042982 name: GATA2 deficiency with susceptibility to MDS/AML def: "A disorder arising from deficiency in the GATA2 with a wide spectrum of phenotypes. Autosomal dominant mutations of GATA2 cause a haploinsufficiency, which, in consequence, cause individuals to develop hematological, immunological, lymphatic, or other presentations. These often progress to severe organ (e.g. lung) failure, opportunistic infections, myelodysplastic syndrome, and/or acute myeloid leukemia. The most common clinical denominator is the propensity for myeloid neoplasia (myelodysplastic syndrome [MDS], myeloproliferative neoplasms [MPN], chronic myelomonocytic leukemia [CMML], acute myeloid leukemia [AML])." [https://github.com/monarch-initiative/mondo/issues/261, PMID:25397911, PMID:25619630, PMID:25624456, PMID:28637621] comment: The most penetrant phenotype among all of the GATA2 related disease entities (MonoMAC, Emberger Syndrome, familial MDS/AML) is myeloid neoplasia; due to the absence of clearly defined and/or distinct differences in molecular mechanism (haploinsufficiency), coupled with noted phenotypic variability (both intra- and inter-familial) these entities appear to be part of a broader disease entity subset: gard_rare subset: predisposition synonym: "GATA2 deficiency" EXACT [GARD:0013373, NCIT:C126349] synonym: "GATA2 deficiency with susceptibility to MDS/AML" EXACT [] synonym: "GATA2 deficiency/MonoMac syndrome" NARROW [NCIT:C126349] xref: NCIT:C126349 {source="MONDO:equivalentTo"} is_a: MONDO:0021094 {source="NCIT:C126349"} ! immunodeficiency disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015984"} ! rare property_value: exactMatch NCIT:C126349 [Term] id: MONDO:0042983 name: neurocutaneous syndrome def: "A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs." [MESH:D020752] comment: A number of genetic and acquired diseases come in this category and may affect one or more of these tissues. However, in some conditions, such as von Hippel-Lindau disease, ectodermal presentation is minimal. Editor note: Phakomatoses are inconsistently defined, and there is a lack of consensus about what conditions are included in this category synonym: "neurocutaneous disorder" RELATED [MESH:D020752] synonym: "neurocutaneous disorders" RELATED [MESH:D020752] synonym: "neurocutaneous syndrome" EXACT [MESH:D020752] synonym: "neuroectodermal dysplasia" RELATED [] synonym: "neuroectodermal dysplasia syndrome" RELATED [MESH:D020752] synonym: "neuroectodermal dysplasia syndromes" RELATED [MESH:D020752] synonym: "Phacomatoses" RELATED [MESH:D020752] synonym: "Phacomatosis" RELATED [MESH:D020752] synonym: "Phakomatoses" RELATED [MESH:D020752] synonym: "phakomatosis" RELATED [MESH:D020752] synonym: "syndrome, neurocutaneous" RELATED [MESH:D020752] synonym: "syndrome, neuroectodermal dysplasia" RELATED [MESH:D020752] synonym: "syndromes, neurocutaneous" RELATED [MESH:D020752] synonym: "syndromes, neuroectodermal dysplasia" RELATED [MESH:D020752] xref: MESH:D020752 {source="MONDO:equivalentTo"} xref: NCIT:C84348 {source="MONDO:equivalentTo"} xref: SCTID:78572006 {source="MONDO:equivalentTo"} xref: UMLS:C0265316 {source="MONDO:equivalentTo"} is_a: EFO:0000618 {source="MESH:D020752"} ! nervous system disease property_value: exactMatch http://identifiers.org/mesh/D020752 property_value: exactMatch http://identifiers.org/snomedct/78572006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265316 property_value: exactMatch NCIT:C84348 property_value: excluded_subClassOf MONDO:0019287 {source="MESH:D020752"} [Term] id: MONDO:0043003 name: familial acanthosis nigricans def: "An instance of acanthosis nigricans (disease) that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] synonym: "acanthosis nigricans" RELATED [OMIM:100600] synonym: "hereditary acanthosis nigricans (disease)" EXACT [MONDO:patterns/hereditary] xref: MESH:C531598 {source="MONDO:equivalentTo"} xref: OMIM:100600 {source="MONDO:equivalentTo", source="DOID:3138"} xref: UMLS:C2930792 {source="MONDO:equivalentTo"} is_a: EFO:1000660 {source="MESH:C531598", source="MONDO:Redundant"} ! acanthosis nigricans is_a: MONDO:0100118 ! hereditary skin disorder intersection_of: EFO:1000660 ! acanthosis nigricans intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/mesh/C531598 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930792 property_value: exactMatch https://omim.org/entry/100600 [Term] id: MONDO:0043005 name: obsolete genetic multiple congenital anomalies/dysmorphic syndrome def: "OBSOLETE. An instance of multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] synonym: "hereditary multiple congenital anomalies/dysmorphic syndrome" EXACT [MONDO:patterns/hereditary] xref: Orphanet:183533 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch Orphanet:183533 property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI is_obsolete: true consider: MONDO:0021147 [Term] id: MONDO:0043008 name: obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability def: "OBSOLETE. An instance of multiple congenital anomalies/dysmorphic syndrome without intellectual disability that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] synonym: "genetic MCA" EXACT [Orphanet:330206] synonym: "genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)" EXACT [Orphanet:330206] synonym: "hereditary multiple congenital anomalies/dysmorphic syndrome without intellectual disability" EXACT [MONDO:patterns/hereditary] xref: Orphanet:330206 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch Orphanet:330206 property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic", source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI is_obsolete: true consider: MONDO:0021147 [Term] id: MONDO:0043009 name: hereditary lethal multiple congenital anomalies/dysmorphic syndrome def: "An instance of lethal multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: disease_grouping subset: ordo_group_of_disorders synonym: "genetic lethal multiple congenital anomalies/dysmorphic syndrome" EXACT [MONDO:patterns/hereditary] xref: Orphanet:471383 {source="MONDO:equivalentTo"} is_a: MONDO:0021147 {source="https://orcid.org/0000-0001-5208-3432"} ! disorder of development or morphogenesis property_value: exactMatch Orphanet:471383 [Term] id: MONDO:0043209 name: albinism def: "A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin." [NCIT:C84543-modified] comment: This groups multiple types, including those restricted to the eyes, the skin or both subset: gard_rare synonym: "albinism" EXACT [NCIT:C84543] xref: ICD10CM:E70.3 {source="MONDO:equivalentTo"} xref: MESH:D000417 {source="MONDO:equivalentTo"} xref: NCIT:C84543 {source="MONDO:equivalentTo"} xref: SCTID:15890002 {source="MONDO:equivalentTo"} xref: UMLS:C0001916 {source="GARD:0005768", source="MONDO:equivalentTo", source="NCIT:C84543"} is_a: MONDO:0004736 {source="MESH:D000417"} ! inborn disorder of amino acid metabolism property_value: exactMatch http://identifiers.org/mesh/D000417 property_value: exactMatch http://identifiers.org/snomedct/15890002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001916 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/E70.3 property_value: exactMatch NCIT:C84543 property_value: excluded_subClassOf MONDO:0024255 {source="MESH:D000417"} [Term] id: MONDO:0043218 name: neurovascular disorder def: "A disorder of the nervous system related to a vascular etiology." [NCIT:C117007] synonym: "disease of nervous system vasculature" EXACT [] synonym: "nervous system disorder of vasculature" EXACT [MONDO:design_pattern] synonym: "neurovascular disorder" EXACT [NCIT:C117007] synonym: "vasculature nervous system disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: NCIT:C117007 {source="MONDO:equivalentTo"} xref: UMLS:C3898144 {source="MONDO:equivalentTo", source="NCIT:C117007"} is_a: EFO:0000618 {source="MONDO:Redundant", source="NCIT:C117007"} ! nervous system disease is_a: EFO:0004264 ! vascular disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3898144 property_value: exactMatch NCIT:C117007 [Term] id: MONDO:0043224 name: multi-infarct dementia def: "A common form of dementia caused by multiple cortical or subcortical cerebral infarctions." [NCIT:C34522] subset: gard_rare synonym: "arteriosclerotic dementia" RELATED [] synonym: "Binswanger disease" RELATED [GARD:0005925] synonym: "Binswanger's disease" RELATED [GARD:0005925] synonym: "dementia multi infarct" RELATED [MESH:D015161] synonym: "dementia multi-infarct" RELATED [GARD:0005925, MESH:D015161] synonym: "dementia multi-infarcts" RELATED [MESH:D015161] synonym: "dementia, lacunar" RELATED [MESH:D015161] synonym: "dementia, multi infarct" RELATED [MESH:D015161] synonym: "dementia, Multiinfarct" RELATED [MESH:D015161] synonym: "Dementias, lacunar" RELATED [MESH:D015161] synonym: "Dementias, multi-infarct" RELATED [MESH:D015161] synonym: "Dementias, Multiinfarct" RELATED [MESH:D015161] synonym: "lacunar dementia" RELATED [MESH:D015161] synonym: "lacunar Dementias" RELATED [MESH:D015161] synonym: "multi infarct dementia" EXACT [NCIT:C34522] synonym: "multi-infarct dementia" EXACT [GARD:0005925, MESH:D015161, NCIT:C34522] synonym: "multi-infarct Dementias" RELATED [MESH:D015161] synonym: "multi-infarct, dementia" RELATED [MESH:D015161] synonym: "multi-infarcts, dementia" RELATED [MESH:D015161] synonym: "Multiinfarct dementia" RELATED [MESH:D015161] synonym: "Multiinfarct Dementias" RELATED [MESH:D015161] xref: MESH:D015161 {source="MONDO:equivalentTo"} xref: NCIT:C34522 {source="MONDO:equivalentTo"} xref: SCTID:56267009 {source="MONDO:equivalentTo"} is_a: EFO:0004718 {source="MESH:D015161", source="NCIT:C34522"} ! vascular dementia is_a: MONDO:0002679 {source="MESH:D015161"} ! cerebral infarction property_value: exactMatch http://identifiers.org/mesh/D015161 property_value: exactMatch http://identifiers.org/snomedct/56267009 property_value: exactMatch NCIT:C34522 [Term] id: MONDO:0043237 name: glossodynia def: "Painful sensations in the tongue, including a sensation of burning." [MESH:D005926] subset: gard_rare synonym: "glossalgia" RELATED [] synonym: "Glossalgias" RELATED [MESH:D005926] synonym: "glossodynia" EXACT [MESH:D005926] synonym: "Glossodynias" RELATED [MESH:D005926] synonym: "Glossopyroses" RELATED [MESH:D005926] synonym: "glossopyrosis" RELATED [MESH:D005926] synonym: "painful tongue" RELATED [] synonym: "soreness of tongue" RELATED [] xref: MESH:D005926 {source="MONDO:equivalentTo"} xref: SCTID:30731004 {source="MONDO:equivalentTo"} is_a: MONDO:0001165 {source="MESH:D005926"} ! tongue disorder is_a: MONDO:0700057 {source="https://orcid.org/0000-0002-4142-7153"} ! neurological pain disorder property_value: exactMatch http://identifiers.org/mesh/D005926 property_value: exactMatch http://identifiers.org/snomedct/30731004 [Term] id: MONDO:0043243 name: leukoplakia def: "A white patch or plaque on a mucous membrane that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition." [NCIT:C3186] subset: gard_rare synonym: "keratotic plaque" EXACT [NCIT:C3186] synonym: "lesion, leukoplakic" RELATED [MESH:D007971] synonym: "lesions, leukoplakic" RELATED [MESH:D007971] synonym: "leukokeratoses" RELATED [MESH:D007971] synonym: "leukokeratosis" RELATED [MESH:D007971] synonym: "leukoplakia" EXACT [NCIT:C3186] synonym: "leukoplakias" RELATED [MESH:D007971] synonym: "leukoplakic lesion" RELATED [MESH:D007971] synonym: "leukoplakic lesions" RELATED [MESH:D007971] xref: MESH:D007971 {source="MONDO:equivalentTo"} xref: NCIT:C3186 {source="MONDO:equivalentTo"} xref: SCTID:274134003 {source="MONDO:equivalentTo"} xref: UMLS:C0023531 {source="GARD:0006897", source="NCIT:C3186", source="MONDO:equivalentTo"} is_a: MONDO:0021074 {source="MESH:D007971", source="NCIT:C3186"} ! precancerous condition property_value: exactMatch http://identifiers.org/mesh/D007971 property_value: exactMatch http://identifiers.org/snomedct/274134003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023531 property_value: exactMatch NCIT:C3186 [Term] id: MONDO:0043364 name: eosinophil peroxidase deficiency def: "A rare abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix." [OMIM:261500] subset: gard_rare synonym: "eosinophil peroxidase deficiency" EXACT [OMIM:261500, OMIM:genemap2] synonym: "eosinophil peroxidase deficiency, Partial" RELATED [OMIM:261500] synonym: "eosinophil peroxidase deficiency, partial" RELATED [GARD:0012361, MESH:C564893] synonym: "EPXD" RELATED ABBREVIATION [GARD:0012361, OMIM:261500] synonym: "peroxidase and phospholipid deficiency in eosinophils" RELATED [GARD:0012361, MESH:C564893, OMIM:261500] synonym: "Presentey anomaly" RELATED [GARD:0012361, OMIM:261500] synonym: "presentey anomaly" RELATED [] xref: MESH:C564893 {source="MONDO:equivalentTo"} xref: OMIM:261500 {source="MONDO:equivalentTo", source="GARD:0012361"} xref: SCTID:711160007 {source="MONDO:equivalentTo"} xref: UMLS:C1850000 {source="MONDO:equivalentTo", source="OMIM:261500"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0004805 {source="MESH:C564893"} ! leukocyte disorder property_value: exactMatch http://identifiers.org/mesh/C564893 property_value: exactMatch http://identifiers.org/snomedct/711160007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850000 property_value: exactMatch https://omim.org/entry/261500 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0043424 name: digestive system infectious disorder def: "A viral, bacterial, fungal, or parasitic infectious process that affects the digestive system." [NCIT:C35503] synonym: "digestive system infection" EXACT [NCIT:C35503] synonym: "gastrointestinal infection" EXACT [NCIT:C35503] synonym: "gastrointestinal system infection" EXACT [NCIT:C35503] synonym: "infection of gastrointestinal tract" RELATED [] xref: NCIT:C35503 {source="MONDO:equivalentTo"} xref: SCTID:715852004 {source="MONDO:equivalentTo"} is_a: EFO:0000405 ! digestive system disease is_a: EFO:0005741 ! infectious disease property_value: exactMatch http://identifiers.org/snomedct/715852004 property_value: exactMatch NCIT:C35503 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0043452 name: chromosome 8, trisomy def: "A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells." [NCIT:C36396] synonym: "chromosome 8 duplication" RELATED [MESH:C537942] synonym: "trisomy 8" RELATED [MESH:C537942, NCIT:C36396] xref: MESH:C537942 {source="MONDO:equivalentTo"} xref: NCIT:C36396 {source="MONDO:relatedTo"} xref: SCTID:205649008 {source="MONDO:equivalentTo"} is_a: MONDO:0700015 ! chromosome 8 disorder is_a: MONDO:0700065 ! trisomy property_value: exactMatch http://identifiers.org/mesh/C537942 property_value: exactMatch http://identifiers.org/snomedct/205649008 property_value: relatedMatch NCIT:C36396 [Term] id: MONDO:0043510 name: brain injury def: "Acute and chronic (see also brain INJURIES, CHRONIC) injuries to the brain, including the cerebral hemispheres, CEREBELLUM, and brain STEM. Clinical manifestations depend on the nature of injury. Diffuse trauma to the brain is frequently associated with DIFFUSE AXONAL INJURY or COMA, POST-TRAUMATIC. Localized injuries may be associated with NEUROBEHAVIORAL MANIFESTATIONS; HEMIPARESIS, or other focal neurologic deficits." [MESH:D001930] synonym: "brain injury" EXACT [MONDO:patterns/location] synonym: "brain trauma" RELATED [MESH:D001930] synonym: "brain Traumas" RELATED [MESH:D001930] synonym: "injury of brain" EXACT [] xref: MESH:D001930 {source="MONDO:equivalentTo"} xref: Orphanet:90056 {source="MONDO:mondoIsBroaderThanSource"} is_a: EFO:0005774 ! brain disease is_a: EFO:0009490 ! nervous system injury property_value: exactMatch http://identifiers.org/mesh/D001930 property_value: narrowMatch Orphanet:90056 [Term] id: MONDO:0043543 name: iatrogenic disease def: "Any adverse condition in a patient occurring as the result of treatment by a physician, surgeon, or other health professional, especially infections acquired by a patient during the course of treatment." [MESH:D007049] subset: harrisons_view synonym: "condition, hospital-acquired" RELATED [MESH:D007049] synonym: "conditions, hospital-acquired" RELATED [MESH:D007049] synonym: "disease, iatrogenic" RELATED [MESH:D007049] synonym: "diseases, iatrogenic" RELATED [MESH:D007049] synonym: "hospital acquired condition" RELATED [MESH:D007049] synonym: "hospital-acquired condition" RELATED [MESH:D007049] synonym: "hospital-acquired conditions" RELATED [MESH:D007049] synonym: "iatrogenic diseases" RELATED [MESH:D007049] synonym: "iatrogenic disorder" EXACT [] xref: ICD10CM:T80-T88 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:799.9 xref: MESH:D007049 {source="MONDO:equivalentTo"} xref: SCTID:12456005 {source="MONDO:equivalentTo"} xref: UMLS:C0020732 {source="MONDO:equivalentTo"} is_a: EFO:0000408 ! disease relationship: has_characteristic MONDO:0100426 ! iatrogenic property_value: exactMatch http://identifiers.org/mesh/D007049 property_value: exactMatch http://identifiers.org/snomedct/12456005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020732 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/T80-T88 [Term] id: MONDO:0043544 name: nosocomial infection def: "An infection acquired in a hospital or other healthcare setting." [NCIT:C115164] synonym: "associated infection, Healthcare" RELATED [MESH:D003428] synonym: "associated infections, Healthcare" RELATED [MESH:D003428] synonym: "Cross infections" RELATED [MESH:D003428] synonym: "HAI" BROAD ABBREVIATION [NCIT:C115164] synonym: "health care associated infection" RELATED [MESH:D003428] synonym: "health care associated infections" RELATED [MESH:D003428] synonym: "Healthcare associated infection" RELATED [MESH:D003428] synonym: "Healthcare associated infections" RELATED [MESH:D003428] synonym: "Healthcare-associated infection" EXACT [NCIT:C115164] synonym: "hospital infection" RELATED [MESH:D003428] synonym: "hospital infections" RELATED [MESH:D003428] synonym: "hospital-acquired infection" EXACT [NCIT:C115164] synonym: "hospital-onset infection" EXACT [NCIT:C115164] synonym: "infection, Cross" RELATED [MESH:D003428] synonym: "infection, Healthcare associated" RELATED [MESH:D003428] synonym: "infection, hospital" RELATED [MESH:D003428] synonym: "infection, nosocomial" RELATED [MESH:D003428] synonym: "infections, Cross" RELATED [MESH:D003428] synonym: "infections, Healthcare associated" RELATED [MESH:D003428] synonym: "infections, hospital" RELATED [MESH:D003428] synonym: "infections, nosocomial" RELATED [MESH:D003428] synonym: "nosocomial infection" EXACT [MESH:D003428, NCIT:C115164] synonym: "nosocomial infections" RELATED [MESH:D003428] synonym: "nosocomial infectious disease" EXACT [] xref: EFO:1001299 {source="MONDO:equivalentTo"} xref: MESH:D003428 {source="MONDO:equivalentTo"} xref: NCIT:C115164 {source="MONDO:equivalentTo"} xref: SCTID:19168005 {source="MONDO:equivalentTo"} xref: UMLS:C0205721 {source="NCIT:C115164", source="MONDO:equivalentTo"} is_a: EFO:0005741 {source="MONDO:Redundant", source="NCIT:C115164"} ! infectious disease is_a: MONDO:0043543 ! iatrogenic disease intersection_of: EFO:0005741 ! infectious disease intersection_of: MONDO:0043543 ! iatrogenic disease property_value: exactMatch http://identifiers.org/mesh/D003428 property_value: exactMatch http://identifiers.org/snomedct/19168005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205721 property_value: exactMatch NCIT:C115164 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0043579 name: enteritis def: "Inflammation of the small intestine." [NCIT:C26765] synonym: "Enteritides" RELATED [MESH:D004751] synonym: "enteritis" EXACT [NCIT:C26765] synonym: "enteritis of small intestine" EXACT [] synonym: "enteritis, inflammatory disorder of small intestine" RELATED [] synonym: "inflammation of small intestine" EXACT [] synonym: "small intestine inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: MESH:D004751 {source="MONDO:equivalentTo"} xref: NCIT:C26765 {source="MONDO:equivalentTo"} xref: SCTID:64613007 {source="MONDO:equivalentTo"} xref: UMLS:C0014335 {source="MONDO:equivalentTo", source="NCIT:C26765"} is_a: EFO:1001463 {source="MESH:D004751", source="MONDO:Redundant"} ! gastroenteritis is_a: MONDO:0024635 {source="MONDO:Redundant"} ! small intestine disorder property_value: exactMatch http://identifiers.org/mesh/D004751 property_value: exactMatch http://identifiers.org/snomedct/64613007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014335 property_value: exactMatch NCIT:C26765 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0043765 name: presbycusis def: "Bilateral hearing loss caused by progressive degeneration of cochlear structures and central auditory pathways, typically associated with the aging process." [NCIT:C116367] synonym: "age-related hearing loss" RELATED [] synonym: "presbyacusia" RELATED [] synonym: "Presbycuses" RELATED [MESH:D011304] synonym: "presbycusis" EXACT [NCIT:C116367] synonym: "senile deafness" RELATED [] xref: MESH:D011304 {source="MONDO:equivalentTo"} xref: NCIT:C116367 {source="MONDO:equivalentTo"} xref: SCTID:49526009 {source="MONDO:equivalentTo"} is_a: EFO:0004238 {source="MESH:D011304/inferred", source="NCIT:C116367"} ! hearing loss relationship: has_characteristic MONDO:0021141 ! acquired property_value: exactMatch http://identifiers.org/mesh/D011304 property_value: exactMatch http://identifiers.org/snomedct/49526009 property_value: exactMatch NCIT:C116367 [Term] id: MONDO:0043768 name: thrombocytopenic purpura def: "Purpura associated with a reduction in circulating blood platelets which can result from a variety of factors." [NCIT:C26870] synonym: "purpura, thrombopenic" RELATED [MESH:D011696] synonym: "purpuras, thrombocytopenic" RELATED [MESH:D011696] synonym: "purpuras, thrombopenic" RELATED [MESH:D011696] synonym: "thrombocytopenic purpura" EXACT [MESH:D011696, NCIT:C26870] synonym: "thrombocytopenic purpuras" RELATED [MESH:D011696] synonym: "thrombopenic purpura" RELATED [MESH:D011696] synonym: "thrombopenic purpuras" RELATED [MESH:D011696] xref: MESH:D011696 {source="MONDO:equivalentTo"} xref: NCIT:C26870 {source="MONDO:equivalentTo"} xref: SCTID:302873008 {source="MONDO:equivalentTo"} xref: UMLS:C0857305 {source="NCIT:C26870", source="MONDO:equivalentTo"} is_a: EFO:0000540 {source="MESH:D011696"} ! immune system disease is_a: MONDO:0002245 ! blood platelet disease is_a: MONDO:0002610 {source="MESH:D011696"} ! purpura is_a: MONDO:0019737 {source="MESH:D011696"} ! thrombotic microangiopathy property_value: exactMatch http://identifiers.org/mesh/D011696 property_value: exactMatch http://identifiers.org/snomedct/302873008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0857305 property_value: exactMatch NCIT:C26870 [Term] id: MONDO:0043771 name: radiodermatitis def: "A cutaneous inflammatory reaction occurring as a result of exposure to biologically effective levels of ionizing radiation." [NCIT:C3349] synonym: "Dermatitides, radiation recall" RELATED [MESH:D011855] synonym: "Dermatitides, radiation-induced" RELATED [MESH:D011855] synonym: "dermatitis radiation" EXACT [NCIT:C3349] synonym: "dermatitis, radiation induced" RELATED [MESH:D011855] synonym: "dermatitis, radiation recall" RELATED [MESH:D011855] synonym: "dermatitis, radiation-induced" RELATED [MESH:D011855] synonym: "radiation dermatitis" EXACT [NCIT:C3349] synonym: "radiation induced dermatitis" RELATED [MESH:D011855] synonym: "radiation recall Dermatitides" RELATED [MESH:D011855] synonym: "radiation recall dermatitis" RELATED [MESH:D011855] synonym: "radiation recall reaction" RELATED [MESH:D011855] synonym: "radiation recall reactions" RELATED [MESH:D011855] synonym: "radiation-induced Dermatitides" RELATED [MESH:D011855] synonym: "radiation-induced dermatitis" EXACT [NCIT:C3349] synonym: "Radiodermatitides" RELATED [MESH:D011855] synonym: "radiodermatitis" EXACT [NCIT:C3349] synonym: "reaction, radiation recall" RELATED [MESH:D011855] synonym: "reactions, radiation recall" RELATED [MESH:D011855] synonym: "recall reaction, radiation" RELATED [MESH:D011855] synonym: "recall reactions, radiation" RELATED [MESH:D011855] xref: EFO:1001840 {source="MONDO:equivalentTo"} xref: MESH:D011855 {source="MONDO:equivalentTo"} xref: NCIT:C3349 {source="MONDO:equivalentTo"} xref: SCTID:49084001 {source="MONDO:equivalentTo"} is_a: EFO:0009565 ! radiation-induced disorder is_a: MONDO:0002406 {source="MESH:D011855", source="MONDO:Redundant", source="NCIT:C3349"} ! dermatitis property_value: exactMatch http://identifiers.org/mesh/D011855 property_value: exactMatch http://identifiers.org/snomedct/49084001 property_value: exactMatch NCIT:C3349 [Term] id: MONDO:0043786 name: serositis def: "Inflammation of a serous membrane." [NCIT:C70428] synonym: "inflammation of serous membrane" EXACT [] synonym: "Serositides" RELATED [MESH:D012700] synonym: "serositis" EXACT [NCIT:C70428] synonym: "serous membrane inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: MESH:D012700 {source="MONDO:equivalentTo"} xref: NCIT:C70428 {source="MONDO:equivalentTo"} xref: SCTID:370469003 {source="MONDO:equivalentTo"} is_a: EFO:0009903 ! inflammatory disease property_value: exactMatch http://identifiers.org/mesh/D012700 property_value: exactMatch http://identifiers.org/snomedct/370469003 property_value: exactMatch NCIT:C70428 [Term] id: MONDO:0043839 name: ulcer disease def: "A lesion on the surface of the skin or a mucous surface, produced by the sloughing of inflammatory necrotic tissue." [MESH:D014456] synonym: "ulcer" EXACT [MESH:D014456] synonym: "ulcers" EXACT [MESH:D014456] xref: MESH:D014456 {source="MONDO:equivalentTo"} xref: NCIT:C3426 {source="MONDO:equivalentTo"} xref: SCTID:429040005 {source="MONDO:equivalentTo"} xref: UMLS:C0041582 {source="MONDO:equivalentTo"} is_a: EFO:0000408 ! disease property_value: exactMatch http://identifiers.org/mesh/D014456 property_value: exactMatch http://identifiers.org/snomedct/429040005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041582 property_value: exactMatch NCIT:C3426 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/pull/5961 xsd:anyURI [Term] id: MONDO:0043878 name: hereditary optic atrophy def: "A family of inherited disorders characterized by progressive loss of vision secondary to death of the retinal ganglion cell axons that comprise the optic nerve." [NCIT:C34864] synonym: "Atrophies, hereditary optic" RELATED [MESH:D015418] synonym: "atrophy, hereditary optic" RELATED [MESH:D015418] synonym: "hereditary optic Atrophies" RELATED [MESH:D015418] synonym: "hereditary optic atrophy" EXACT [MESH:D015418, MONDO:patterns/hereditary, NCIT:C34864] synonym: "optic atrophy, hereditary" RELATED [MESH:D015418] xref: MESH:D015418 {source="MONDO:equivalentTo"} xref: NCIT:C34864 {source="MONDO:equivalentTo"} xref: OMIMPS:165500 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: SCTID:26360005 {source="MONDO:equivalentTo"} xref: UMLS:C0029125 {source="MONDO:equivalentTo", source="NCIT:C34864"} is_a: MONDO:0001084 ! primary optic atrophy is_a: MONDO:0024237 {source="MESH:D015418", source="MONDO:Redundant"} ! inherited neurodegenerative disorder intersection_of: MONDO:0003608 ! optic atrophy intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/mesh/D015418 property_value: exactMatch http://identifiers.org/snomedct/26360005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029125 property_value: exactMatch https://omim.org/phenotypicSeries/PS165500 property_value: exactMatch NCIT:C34864 [Term] id: MONDO:0043885 name: eye infectious disorder def: "An infectious process affecting any part of the eye. Causes include viruses and bacteria. Symptoms include itching and discomfort in the eye, watery eyes, eye pain and discharge, and blurring vision. Representative examples include pink eye, blepharitis, and trachoma." [NCIT:C45372] synonym: "eye infection" EXACT [MESH:D015817, NCIT:C45372] synonym: "infection, eye" RELATED [MESH:D015817] synonym: "infection, ocular" RELATED [MESH:D015817] synonym: "infections, eye" RELATED [MESH:D015817] synonym: "infections, ocular" RELATED [MESH:D015817] synonym: "ocular infection" RELATED [MESH:D015817] synonym: "ocular infections" RELATED [MESH:D015817] xref: MESH:D015817 {source="MONDO:equivalentTo"} xref: NCIT:C45372 {source="MONDO:equivalentTo"} xref: SCTID:128351009 {source="MONDO:equivalentTo"} xref: UMLS:C0015403 {source="NCIT:C45372", source="MONDO:equivalentTo"} is_a: EFO:0003966 {source="MESH:D015817", source="NCIT:C45372/inferred"} ! eye disease is_a: EFO:0005741 ! infectious disease property_value: exactMatch http://identifiers.org/mesh/D015817 property_value: exactMatch http://identifiers.org/snomedct/128351009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015403 property_value: exactMatch NCIT:C45372 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0043953 name: burkholderia infectious disease def: "Infections with bacteria of the genus Burkholderia." [MESH:D019121] synonym: "Burkholderia caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Burkholderia disease or disorder" EXACT [] synonym: "Burkholderia infection" RELATED [MESH:D019121] synonym: "Burkholderia infectious disease" EXACT [] synonym: "burkholderia infectious disease" EXACT [] synonym: "infection caused by Burkholderia" EXACT [] synonym: "infection, Burkholderia" RELATED [MESH:D019121] synonym: "infections, Burkholderia" RELATED [MESH:D019121] xref: EFO:1001280 {source="MONDO:equivalentTo"} xref: MESH:D019121 {source="MONDO:equivalentTo"} xref: SCTID:721736003 {source="MONDO:equivalentTo"} is_a: MONDO:0021678 {source="MESH:D019121"} ! gram-negative bacterial infections property_value: exactMatch http://identifiers.org/mesh/D019121 property_value: exactMatch http://identifiers.org/snomedct/721736003 [Term] id: MONDO:0044001 name: hearing loss, mixed conductive-sensorineural def: "Hearing loss characterized by a combination of conductive and sensorineural hearing loss. It is caused by problems in both the inner ear and middle or outer ear." [NCIT:C26974] synonym: "hearing loss, mixed" RELATED [MESH:D046089] synonym: "hearing loss, mixed conductive sensorineural" RELATED [MESH:D046089] synonym: "loss, mixed hearing" RELATED [MESH:D046089] synonym: "Losses, mixed hearing" RELATED [MESH:D046089] synonym: "mixed conductive and sensorineural deafness" EXACT [NCIT:C26974] synonym: "mixed conductive and sensorineural hearing loss" EXACT [NCIT:C26974] synonym: "mixed deafness" RELATED [] synonym: "mixed hearing loss" EXACT [MESH:D046089, NCIT:C26974] synonym: "mixed type deafness" RELATED [] xref: EFO:1001803 {source="MONDO:equivalentTo"} xref: MESH:D046089 {source="MONDO:equivalentTo"} xref: NCIT:C26974 {source="MONDO:equivalentTo"} xref: SCTID:77507001 {source="MONDO:equivalentTo"} xref: UMLS:C0155552 {source="MONDO:equivalentTo", source="NCIT:C26974"} is_a: EFO:0004238 {source="MESH:D046089", source="NCIT:C26974"} ! hearing loss property_value: exactMatch http://identifiers.org/mesh/D046089 property_value: exactMatch http://identifiers.org/snomedct/77507001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155552 property_value: exactMatch NCIT:C26974 [Term] id: MONDO:0044200 name: T-B+ severe combined immunodeficiency def: "T-B+ severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive." [Orphanet:317416] comment: Editor note: add logical definition subset: disease_grouping subset: ordo_group_of_disorders synonym: "T-B+ SCID" EXACT [Orphanet:317416] synonym: "T-cell negative B-cell positive SCID" EXACT [] xref: Orphanet:317416 {source="MONDO:equivalentTo"} is_a: MONDO:0015974 {source="Orphanet:317416"} ! severe combined immunodeficiency disjoint_from: MONDO:0044201 ! T+ B+ severe combined immunodeficiency property_value: exactMatch Orphanet:317416 [Term] id: MONDO:0044201 name: T+ B+ severe combined immunodeficiency subset: disease_grouping subset: ordo_group_of_disorders synonym: "T+B+ SCID" EXACT [] synonym: "T-cell positive B-cell positive SCID" EXACT [] xref: Orphanet:397802 {source="MONDO:equivalentTo"} is_a: MONDO:0015974 {source="Orphanet:397802"} ! severe combined immunodeficiency property_value: exactMatch Orphanet:397802 [Term] id: MONDO:0044202 name: episodic kinesigenic dyskinesia def: "Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia, characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements." [Orphanet:98809] subset: ordo_disease {source="Orphanet:98809"} synonym: "EKD" BROAD ABBREVIATION [OMIMPS:128200] synonym: "familial paroxysmal kinesigenic dyskinesia" EXACT [Orphanet:98809] synonym: "familial PKD" EXACT [Orphanet:98809] synonym: "paroxysmal kinesigenic choreathetosis" EXACT [Orphanet:98809] xref: OMIMPS:128200 {source="MONDO:equivalentTo"} xref: Orphanet:98809 {source="DOID:0090053", source="OMIM:128200", source="MONDO:equivalentTo"} is_a: MONDO:0015427 {source="MONDO:cjm"} ! paroxysmal dyskinesia property_value: exactMatch https://omim.org/phenotypicSeries/PS128200 property_value: exactMatch Orphanet:98809 [Term] id: MONDO:0044203 name: foveal hypoplasia def: "Underdevelopment of the fovea centralis." [HP:0007750] synonym: "FVH" RELATED ABBREVIATION [MONDO:Lexical] xref: OMIMPS:136520 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/phenotypicSeries/PS136520 [Term] id: MONDO:0044206 name: otospondylomegaepiphyseal dysplasia, autosomal recessive synonym: "chondrodystrophy with sensorineural deafness" RELATED [OMIM:215150] synonym: "Nance-Insley syndrome" RELATED [OMIM:215150] synonym: "Nance-Sweeney chondrodysplasia" RELATED [OMIM:215150] synonym: "OSMED" RELATED ABBREVIATION [OMIM:215150] synonym: "OSMEDB" RELATED ABBREVIATION [OMIM:215150] synonym: "otospondylomegaepiphyseal dysplasia, autosomal recessive" EXACT [OMIM:215150] synonym: "Weissenbacher-Zweymuller syndrome" RELATED [OMIM:215150] synonym: "Weissenbacher-Zweymuller syndrome, formerly" RELATED [OMIM:215150] xref: OMIM:215150 {source="MONDO:equivalentTo"} is_a: MONDO:0008975 {source="OMIM:215150"} ! otospondylomegaepiphyseal dysplasia is_a: MONDO:0800087 {source="PMID:31633310"} ! type 11 collagen-related bone disorder property_value: exactMatch https://omim.org/entry/215150 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0044209 name: disorder of lectin complement activation pathway def: "A disease that has its basis in the disruption of complement activation, lectin pathway." [MONDO:patterns/basis_in_disruption_of_process] synonym: "complement activation, lectin pathway disease" EXACT [] synonym: "disorder of complement activation, lectin pathway" EXACT [MONDO:patterns/basis_in_disruption_of_process] xref: OMIMPS:614372 {source="MONDO:equivalentTo"} is_a: MONDO:0003832 ! complement deficiency is_a: MONDO:0015135 ! primary immunodeficiency due to a genetic defect in innate immunity property_value: exactMatch https://omim.org/phenotypicSeries/PS614372 [Term] id: MONDO:0044211 name: idiopathic urticaria synonym: "idiopathic angioedema-urticaria" RELATED [] xref: ICD10CM:L50.1 {source="MONDO:equivalentTo"} xref: ICD9:708.1 xref: SCTID:42265009 {source="MONDO:equivalentTo"} xref: UMLS:C0157741 {source="MONDO:equivalentTo"} is_a: EFO:0005531 {source="ICD10CM:L50.1"} ! urticaria is_a: MONDO:0700007 ! idiopathic disease intersection_of: EFO:0005531 ! urticaria intersection_of: has_characteristic MONDO:0700005 ! idiopathic property_value: exactMatch http://identifiers.org/snomedct/42265009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0157741 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L50.1 [Term] id: MONDO:0044302 name: congenital heart defects, dysmorphic facial features, and intellectual developmental disorder synonym: "CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome" EXACT [Orphanet:646278] synonym: "CHDFIDD" RELATED ABBREVIATION [OMIM:617360] synonym: "congenital heart defects, dysmorphic FACIAL features, and intellectual developmental disorder" RELATED [OMIM:617360] xref: DOID:0112247 {source="MONDO:equivalentTo"} xref: OMIM:617360 {source="MONDO:equivalentTo"} xref: Orphanet:646278 {source="MONDO:equivalentTo"} xref: UMLS:C4479246 {source="MONDO:equivalentTo", source="OMIM:617360"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch DOID:0112247 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479246 property_value: exactMatch https://omim.org/entry/617360 property_value: exactMatch Orphanet:646278 [Term] id: MONDO:0044303 name: congenital heart defects and ectodermal dysplasia synonym: "CHDED" RELATED ABBREVIATION [OMIM:617364] synonym: "congenital heart defects and ectodermal dysplasia" EXACT [OMIM:617364] xref: OMIM:617364 {source="MONDO:equivalentTo"} xref: UMLS:C4479250 {source="MONDO:equivalentTo", source="OMIM:617364"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479250 property_value: exactMatch https://omim.org/entry/617364 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0044304 name: hyperphenylalaninemia due to DNAJC12 deficiency def: "Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by {1:Anikster et al., 2017})." [OMIM:617384] subset: ordo_disease synonym: "HPANBH4" RELATED ABBREVIATION [OMIM:617384] synonym: "hyperphenylalaninemia due to DNAJC12 deficiency" EXACT [] synonym: "hyperphenylalaninemia, mild, non-BH4-deficient" RELATED [OMIM:617384] xref: OMIM:617384 {source="MONDO:equivalentTo", source="Orphanet:508523"} xref: Orphanet:508523 {source="MONDO:equivalentTo"} xref: UMLS:C4479270 {source="MONDO:equivalentTo", source="OMIM:617384"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0017756 {source="Orphanet:508523"} ! disorder of pterin metabolism is_a: MONDO:0018329 {source="Orphanet:508523"} ! persistent combined dystonia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479270 property_value: exactMatch https://omim.org/entry/617384 property_value: exactMatch Orphanet:508523 property_value: excluded_subClassOf MONDO:0009861 {source="https://github.com/Orphanet/ORDO/issues/15"} [Term] id: MONDO:0044306 name: neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination def: "Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by {1:Schoch et al., 2017})." [OMIM:617393] subset: ordo_disease synonym: "NECFM" RELATED ABBREVIATION [OMIM:617393] synonym: "neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination" EXACT [OMIM:617393] synonym: "severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract" RELATED [Orphanet:500545] xref: OMIM:617393 {source="Orphanet:500545", source="MONDO:equivalentTo"} xref: Orphanet:500545 {source="MONDO:equivalentTo", source="OMIM:617393"} xref: UMLS:C4479333 {source="MONDO:equivalentTo", source="OMIM:617393"} is_a: MONDO:0015653 {source="Orphanet:500545"} ! monogenic epilepsy is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479333 property_value: exactMatch https://omim.org/entry/617393 property_value: exactMatch Orphanet:500545 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:500545"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0044312 name: immunoskeletal dysplasia with neurodevelopmental abnormalities synonym: "IMMUNOSKELETAL dysplasia with neurodevelopmental abnormalities" RELATED [OMIM:617425] synonym: "ISDNA" RELATED ABBREVIATION [OMIM:617425] xref: OMIM:617425 {source="MONDO:equivalentTo"} xref: UMLS:C4479452 {source="OMIM:617425", source="MONDO:equivalentTo"} is_a: MONDO:0016761 {source="PMID:31633310"} ! spondyloepiphyseal dysplasia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479452 property_value: exactMatch https://omim.org/entry/617425 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0044315 name: craniosynostosis 7 def: "Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {1:Fitzpatrick, 2013}).nnFor a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM:123100)." [OMIM:617439] synonym: "craniosynostosis 7" EXACT [OMIM:617439] synonym: "craniosynostosis 7, digenic" RELATED [OMIM:617439] synonym: "craniosynostosis 7, susceptibility to" EXACT [OMIM:617439, OMIM:genemap2] synonym: "CRS7" RELATED ABBREVIATION [OMIM:617439] synonym: "Crs7, digenic" RELATED [OMIM:617439] xref: OMIM:617439 {source="MONDO:equivalentTo"} xref: UMLS:C4479496 {source="OMIM:617439", source="MONDO:equivalentTo"} is_a: MONDO:0020573 {source="OMIM:617439", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility relationship: predisposes_towards MONDO:0015469 {source="OMIM:617439"} ! craniosynostosis property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479496 property_value: exactMatch https://omim.org/entry/617439 property_value: excluded_subClassOf MONDO:0015469 {source="OMIM:617439"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4882 xsd:anyURI [Term] id: MONDO:0044316 name: thrombocytopenia, anemia, and myelofibrosis synonym: "THAMY" RELATED ABBREVIATION [OMIM:617441] synonym: "thrombocytopenia, anemia, and myelofibrosis" EXACT [OMIM:617441] xref: OMIM:617441 {source="MONDO:equivalentTo"} xref: UMLS:C4479504 {source="MONDO:equivalentTo", source="OMIM:617441"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479504 property_value: exactMatch https://omim.org/entry/617441 [Term] id: MONDO:0044318 name: intellectual developmental disorder with gastrointestinal difficulties and high pain threshold def: "IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by {1:Jansen et al., 2017})." [OMIM:617450] synonym: "IDDGIP" RELATED ABBREVIATION [OMIM:617450] synonym: "intellectual developmental disorder with gastrointestinal difficulties and high pain threshold" EXACT [OMIM:617450] synonym: "Jansen de Vries syndrome" EXACT [OMIM:617450, OMIM:genemap2] xref: OMIM:617450 {source="MONDO:equivalentTo"} xref: UMLS:C4479517 {source="MONDO:equivalentTo", source="OMIM:617450"} is_a: EFO:0010642 {source="https://orcid.org/0000-0002-4142-7153"} ! Neurodevelopmental disorder is_a: MONDO:0000508 {source="MONDO:cjm", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479517 property_value: exactMatch https://omim.org/entry/617450 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0044319 name: intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies def: "IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by {1:Santiago-Sim et al., 2017})." [OMIM:617452] subset: ordo_malformation_syndrome synonym: "IDDFSDA" RELATED ABBREVIATION [OMIM:617452] synonym: "intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies" EXACT [OMIM:617452] xref: OMIM:617452 {source="MONDO:equivalentTo", source="Orphanet:505237"} xref: Orphanet:505237 {source="MONDO:equivalentTo", source="OMIM:617452"} xref: UMLS:C4479520 {source="MONDO:equivalentTo", source="OMIM:617452"} is_a: MONDO:0000508 {source="MONDO:cjm", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:505237"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015653 {source="Orphanet:505237"} ! monogenic epilepsy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479520 property_value: exactMatch https://omim.org/entry/617452 property_value: exactMatch Orphanet:505237 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0044322 name: intellectual developmental disorder with neuropsychiatric features def: "Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by {2:Srour et al., 2017})." [OMIM:617532] synonym: "IDDNPF" RELATED ABBREVIATION [OMIM:617532] synonym: "intellectual developmental disorder with neuropsychiatric features" EXACT [OMIM:617532] xref: OMIM:617532 {source="MONDO:equivalentTo"} xref: UMLS:C4479636 {source="MONDO:equivalentTo", source="OMIM:617532"} is_a: MONDO:0000508 {source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479636 property_value: exactMatch https://omim.org/entry/617532 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/926 xsd:anyURI [Term] id: MONDO:0044324 name: Al Kaissi syndrome def: "Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by {1:Windpassinger et al., 2017})." [OMIM:617694] synonym: "AL KAISSI syndrome" RELATED [OMIM:617694] synonym: "ALKAS" RELATED ABBREVIATION [OMIM:617694] synonym: "Growth retardation, spine malformation, dysmorphic facies, and developmental delay" RELATED [OMIM:617694] xref: OMIM:617694 {source="MONDO:equivalentTo"} xref: UMLS:CN502749 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:cjm", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN502749 property_value: exactMatch https://omim.org/entry/617694 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0044325 name: Fanconi anemia, complementation group W synonym: "Fanconi anemia, complementation group W" EXACT [OMIM:617784] synonym: "FANCW" RELATED ABBREVIATION [OMIM:617784] xref: OMIM:617784 {source="MONDO:equivalentTo"} xref: UMLS:CN653907 {source="MONDO:equivalentTo"} is_a: MONDO:0019391 {source="OMIM:617784"} ! Fanconi anemia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN653907 property_value: exactMatch https://omim.org/entry/617784 [Term] id: MONDO:0044326 name: developmental delay and seizures with or without movement abnormalities def: "DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by {1:Hamdan et al., 2017})." [OMIM:617836] synonym: "DEDSM" RELATED ABBREVIATION [OMIM:617836] synonym: "developmental delay and seizures with or without movement abnormalities" EXACT [OMIM:617836] xref: DOID:0080473 {source="MONDO:equivalentTo"} xref: OMIM:617836 {source="MONDO:equivalentTo"} xref: Orphanet:442835 {source="MONDO:relatedTo", source="OMIM:617836"} xref: UMLS:CN769090 {source="MONDO:equivalentTo"} is_a: EFO:0010642 {source="https://orcid.org/0000-0002-4142-7153"} ! Neurodevelopmental disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: exactMatch DOID:0080473 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN769090 property_value: exactMatch https://omim.org/entry/617836 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:cjm"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0044327 name: polycystic liver disease 4 with or without kidney cysts def: "An autosomal dominant disease characterized by adult-onset of liver cysts arising from the bile duct epithelium, caused by heterozygous mutation in the LRP5 gene. Some patients may develop a few kidney cysts, but these are often incidental and do not result in renal failure." [OMIM:617875, PMID:24706814] synonym: "PCLD4" RELATED ABBREVIATION [OMIM:617875] synonym: "polycystic liver disease 4 with or without kidney cysts" EXACT [OMIM:617875] xref: OMIM:617875 {source="MONDO:equivalentTo"} xref: UMLS:CN818987 {source="MONDO:equivalentTo"} is_a: MONDO:0000447 {source="OMIM:617875"} ! autosomal dominant polycystic liver disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN818987 property_value: exactMatch https://omim.org/entry/617875 [Term] id: MONDO:0044331 name: obsolete genetic transient congenital hypothyroidism def: "OBSOLETE. An instance of transient congenital hypothyroidism that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] synonym: "hereditary transient congenital hypothyroidism" EXACT [MONDO:patterns/hereditary] xref: Orphanet:226316 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch Orphanet:226316 property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic", source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI is_obsolete: true consider: MONDO:0018612 [Term] id: MONDO:0044334 name: connective and soft tissue neoplasm def: "A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue." [NCIT:C3810] comment: Editor note: we follow NCIT in making this a grouping of all soft tissue and connective tissue neoplasms, including bone synonym: "connective and soft tissue neoplasm" EXACT [NCIT:C3810] synonym: "connective and soft tissue tumor" EXACT [NCIT:C3810] synonym: "connective and soft tissue tumour" EXACT OMO:0003005 [] synonym: "musculoskeletal and soft tissue neoplasm" EXACT [NCIT:C3810] synonym: "musculoskeletal and soft tissue tumor" EXACT [NCIT:C3810] synonym: "musculoskeletal and soft tissue tumour" EXACT OMO:0003005 [] synonym: "neoplasm of skeletal and soft tissue" EXACT [NCIT:C3810] synonym: "neoplasm of soft tissue and bone" EXACT [NCIT:C3810] synonym: "neoplasm of soft tissue and skeleton" EXACT [NCIT:C3810] synonym: "skeletal and soft tissue neoplasm" EXACT [NCIT:C3810] synonym: "skeletal and soft tissue tumor" EXACT [NCIT:C3810] synonym: "skeletal and soft tissue tumour" EXACT OMO:0003005 [] synonym: "soft tissue and bone neoplasm" EXACT [NCIT:C3810] synonym: "soft tissue and bone tumor" EXACT [NCIT:C3810] synonym: "soft tissue and bone tumour" EXACT OMO:0003005 [] synonym: "tumor of skeletal and soft tissue" EXACT [NCIT:C3810] synonym: "tumor of soft tissue and bone" EXACT [NCIT:C3810] synonym: "tumor of soft tissue and skeleton" EXACT [NCIT:C3810] synonym: "tumour of skeletal and soft tissue" EXACT OMO:0003005 [] synonym: "tumour of soft tissue and bone" EXACT OMO:0003005 [] synonym: "tumour of soft tissue and skeleton" EXACT OMO:0003005 [] xref: NCIT:C3810 {source="MONDO:equivalentTo"} is_a: EFO:0000616 {source="NCIT:C3810/inferred"} ! neoplasm property_value: exactMatch NCIT:C3810 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0044335 name: benign soft tissue neoplasm def: "A non-metastasizing neoplasm that arises from the soft tissue." [NCIT:C4242] synonym: "benign neoplasm of soft tissue" EXACT [NCIT:C4242] synonym: "benign neoplasm of the soft tissue" EXACT [NCIT:C4242] synonym: "benign soft tissue neoplasm" EXACT [NCIT:C4242] synonym: "benign soft tissue tumor" EXACT [NCIT:C4242] synonym: "benign soft tissue tumour" EXACT OMO:0003005 [] synonym: "benign tumor of soft tissue" EXACT [NCIT:C4242] synonym: "benign tumor of the soft tissue" EXACT [NCIT:C4242] synonym: "benign tumour of soft tissue" EXACT OMO:0003005 [] synonym: "benign tumour of the soft tissue" EXACT OMO:0003005 [] synonym: "soft tissue neoplasm, benign" EXACT [MONDO:patterns/benign] xref: ICDO:8800/0 {source="NCIT:C4242"} xref: NCIT:C4242 {source="MONDO:equivalentTo"} xref: SCTID:92069005 {source="MONDO:equivalentTo"} xref: UMLS:C0334450 {source="NCIT:C4242", source="MONDO:equivalentTo"} is_a: EFO:1000541 {source="MONDO:Redundant", source="NCIT:C4242"} ! Soft Tissue Neoplasm is_a: MONDO:0000654 {source="MONDO:Redundant", source="NCIT:C4242"} ! benign connective and soft tissue neoplasm property_value: exactMatch http://identifiers.org/snomedct/92069005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334450 property_value: exactMatch NCIT:C4242 [Term] id: MONDO:0044347 name: erythrocyte disorder def: "A disease or disorder that involves the erythrocyte." [MONDO:patterns/location] synonym: "disease of erythrocyte" EXACT [MONDO:design_pattern, MONDO:patterns/location_top] synonym: "disease or disorder of erythrocyte" EXACT [] synonym: "disorder of erythrocyte" EXACT [MONDO:design_pattern, MONDO:patterns/location_top] synonym: "erythrocyte disease" EXACT [MONDO:design_pattern] synonym: "erythrocyte disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "red blood cell disease" EXACT [] synonym: "red blood cell disorder" EXACT [] xref: ICD9:289.9 xref: SCTID:38292009 {source="MONDO:equivalentTo"} xref: UMLS:C0221016 {source="MONDO:equivalentTo"} is_a: EFO:0005803 ! hematologic disease property_value: exactMatch http://identifiers.org/snomedct/38292009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221016 [Term] id: MONDO:0044348 name: hemoglobinopathy synonym: "globin abnormality" RELATED [] synonym: "haemoglobin disease" RELATED OMO:0003005 [] synonym: "haemoglobin disorder" RELATED OMO:0003005 [] synonym: "hemoglobin disease" RELATED [] synonym: "hemoglobin disorder" RELATED [] synonym: "hemoglobinopathy" EXACT [] xref: ICD9:282.7 xref: SCTID:80141007 {source="MONDO:equivalentTo"} is_a: MONDO:0044347 ! erythrocyte disorder relationship: disease_has_feature MONDO:0002280 ! anemia property_value: exactMatch http://identifiers.org/snomedct/80141007 [Term] id: MONDO:0044349 name: acquired hemoglobinopathy def: "An instance of hemoglobinopathy that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] synonym: "acquired hemoglobinopathy" EXACT [MONDO:patterns/acquired] xref: SCTID:127039000 {source="MONDO:equivalentTo"} xref: UMLS:C1263995 {source="MONDO:equivalentTo"} is_a: MONDO:0044348 {source="MONDO:Redundant"} ! hemoglobinopathy intersection_of: MONDO:0044348 ! hemoglobinopathy intersection_of: has_characteristic MONDO:0021141 ! acquired relationship: has_characteristic MONDO:0021141 ! acquired property_value: exactMatch http://identifiers.org/snomedct/127039000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1263995 [Term] id: MONDO:0044626 name: female infertility due to oocyte meiotic arrest subset: ordo_disease xref: Orphanet:488191 {source="MONDO:equivalentTo"} is_a: EFO:0008560 {source="MONDO:Redundant", source="Orphanet:488191"} ! female infertility property_value: exactMatch Orphanet:488191 [Term] id: MONDO:0044635 name: DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome subset: ordo_disease synonym: "DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome" EXACT [Orphanet:494444] xref: Orphanet:494444 {source="MONDO:equivalentTo"} is_a: MONDO:0018795 {source="Orphanet:494444"} ! syndromic constitutional thrombocytopenia property_value: exactMatch Orphanet:494444 [Term] id: MONDO:0044646 name: early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome subset: ordo_malformation_syndrome synonym: "encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum" EXACT [MONDO:0014964, OMIM:617193] synonym: "encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum; PEBAT" EXACT [] synonym: "PEBAT" EXACT ABBREVIATION [OMIM:617193] xref: DOID:0070423 {source="MONDO:equivalentTo"} xref: OMIM:617193 {source="Orphanet:496641", source="MONDO:equivalentTo"} xref: Orphanet:496641 {source="MONDO:equivalentTo"} xref: UMLS:C4310671 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:496641"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0024237 {source="Orphanet:496641"} ! inherited neurodegenerative disorder is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy property_value: exactMatch DOID:0070423 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310671 property_value: exactMatch https://omim.org/entry/617193 property_value: exactMatch Orphanet:496641 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:496641"} property_value: excluded_subClassOf MONDO:0005559 {source="Orphanet:496641"} property_value: excluded_subClassOf MONDO:0015653 {source="Orphanet:496641"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5671 xsd:anyURI [Term] id: MONDO:0044655 name: c12orf65-related combined oxidative phosphorylation defect comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders synonym: "C12ORF65-related COXPD" EXACT [Orphanet:497623] xref: Orphanet:497623 {source="MONDO:equivalentTo"} is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare property_value: exactMatch Orphanet:497623 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:497623"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0044660 name: menstrual cycle-dependent periodic fever subset: ordo_disease synonym: "luteal-phase-dependent febrile episode" EXACT [Orphanet:498251] synonym: "luteal-phase-dependent periodic fever" EXACT [Orphanet:498251] synonym: "menstrual cycle-dependent febrile episode" EXACT [Orphanet:498251] synonym: "periodic fever, menstrual cycle dependent" EXACT [OMIM:614674, OMIM:genemap2] synonym: "periodic fever, menstrual cycle-dependent" EXACT [MONDO:0013850, OMIM:614674] xref: OMIM:614674 {source="MONDO:equivalentTo"} xref: Orphanet:498251 {source="MONDO:equivalentTo"} xref: UMLS:C3553418 {source="OMIM:614674", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0016072 ! anomaly of puberty or/and menstrual cycle of genetic origin property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553418 property_value: exactMatch https://omim.org/entry/614674 property_value: exactMatch Orphanet:498251 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0044685 name: autoimmune/inflammatory optic neuropathy subset: disease_grouping subset: ordo_group_of_disorders xref: Orphanet:499047 {source="MONDO:equivalentTo"} is_a: EFO:0003966 {source="MONDO:0015937-obsoleted"} ! eye disease property_value: exactMatch Orphanet:499047 [Term] id: MONDO:0044696 name: early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome subset: ordo_malformation_syndrome synonym: "encephalopathy, progressive, early-onset, with brain atrophy and spasticity" RELATED [OMIM:617669] synonym: "PEBAS" RELATED ABBREVIATION [OMIM:617669] xref: OMIM:617669 {source="MONDO:equivalentTo", source="Orphanet:500144"} xref: Orphanet:500144 {source="OMIM:617669", source="MONDO:equivalentTo"} xref: UMLS:CN474476 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:500144"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN474476 property_value: exactMatch https://omim.org/entry/617669 property_value: exactMatch Orphanet:500144 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:500144"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5671 xsd:anyURI [Term] id: MONDO:0044704 name: oropharynx squamous cell carcinoma def: "A squamous cell carcinoma that involves the oropharynx." [MONDO:patterns/location] subset: ordo_disease synonym: "epidermoid carcinoma of oropharynx" EXACT [NCIT:C8181] synonym: "epidermoid carcinoma of the oropharynx" EXACT [NCIT:C8181] synonym: "oropharyngeal epidermoid carcinoma" EXACT [NCIT:C8181] synonym: "oropharyngeal squamous cell carcinoma" EXACT [NCIT:C8181] synonym: "oropharyngeal throat squamous cell cancer" EXACT [NCIT:C8181] synonym: "squamous cell carcinoma of oropharynx" EXACT [NCIT:C8181] synonym: "squamous cell carcinoma of the oropharynx" RELATED [Orphanet:500478] xref: NCIT:C8181 {source="MONDO:equivalentTo"} xref: ONCOTREE:OPHSC {source="MONDO:equivalentTo"} xref: Orphanet:500478 {source="MONDO:equivalentTo"} is_a: EFO:1001965 ! pharyngeal squamous cell carcinoma is_a: MONDO:0044926 ! oropharyngeal carcinoma property_value: exactMatch NCIT:C8181 property_value: exactMatch Orphanet:500478 [Term] id: MONDO:0044705 name: paranasal sinus squamous cell carcinoma def: "A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid, frontal, maxillary, or sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis." [NCIT:C8193] subset: ordo_disease synonym: "epidermoid carcinoma of paranasal sinus" EXACT [NCIT:C8193] synonym: "epidermoid carcinoma of the paranasal sinus" EXACT [NCIT:C8193] synonym: "paranasal sinus epidermoid carcinoma" EXACT [NCIT:C8193] synonym: "paranasal sinus squamous cell carcinoma" EXACT [NCIT:C8193] synonym: "squamous cell carcinoma of paranasal sinus" EXACT [NCIT:C8193] synonym: "squamous cell carcinoma of the nasal cavity and paranasal sinuses" RELATED [Orphanet:500464] synonym: "squamous cell carcinoma of the nasal cavity and sinuses" EXACT [Orphanet:500464] synonym: "squamous cell carcinoma of the paranasal sinus" EXACT [NCIT:C8193] xref: NCIT:C8193 {source="MONDO:equivalentTo"} xref: Orphanet:500464 {source="MONDO:equivalentTo"} xref: UMLS:C0280334 {source="MONDO:equivalentTo"} is_a: EFO:0000181 ! head and neck squamous cell carcinoma is_a: MONDO:0000380 {source="MONDO:Redundant", source="NCIT:C8193"} ! paranasal sinus carcinoma is_a: MONDO:0000514 ! bone squamous cell carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280334 property_value: exactMatch NCIT:C8193 property_value: exactMatch Orphanet:500464 [Term] id: MONDO:0044710 name: lip and oral cavity squamous cell carcinoma def: "A squamous cell carcinoma arising from the lip or the oral cavity. The oral cavity squamous cell carcinoma usually arises from the buccal mucosa, tongue, or gums. It occurs predominantly in adults who use tobacco and alcohol and has a tendency to metastasize early to lymph nodes." [NCIT:C42690] subset: disease_grouping subset: ordo_group_of_disorders synonym: "lip and oral cavity squamous cell cancer" EXACT [NCIT:C42690] synonym: "lip and oral cavity squamous cell carcinoma" EXACT [NCIT:C42690] synonym: "lip/oral cavity squam. cell car." EXACT [NCIT:C42690] synonym: "squamous cell carcinoma of oral cavity and lip" RELATED [Orphanet:502369] xref: NCIT:C42690 {source="MONDO:equivalentTo"} xref: Orphanet:502369 {source="MONDO:equivalentTo"} xref: UMLS:C0280297 {source="MONDO:equivalentTo"} is_a: EFO:0000181 {source="MONDO:Redundant", source="NCIT:C42690"} ! head and neck squamous cell carcinoma is_a: MONDO:0023644 {source="MONDO:Redundant", source="NCIT:C42690"} ! lip and oral cavity carcinoma is_a: MONDO:0024623 {source="MONDO:0020035-obsoleted"} ! otorhinolaryngologic disease intersection_of: EFO:0000181 {source="NCIT:C42690"} ! head and neck squamous cell carcinoma intersection_of: MONDO:0023644 {source="NCIT:C42690"} ! lip and oral cavity carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280297 property_value: exactMatch NCIT:C42690 property_value: exactMatch Orphanet:502369 [Term] id: MONDO:0044714 name: mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome subset: ordo_disease synonym: "mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome" EXACT [Orphanet:502423] synonym: "MMYAT" RELATED ABBREVIATION [OMIM:617675] synonym: "myopathy, mitochondrial, and ataxia" RELATED [OMIM:617675] xref: OMIM:617675 {source="Orphanet:502423", source="MONDO:equivalentTo"} xref: Orphanet:502423 {source="MONDO:equivalentTo", source="OMIM:617675"} xref: UMLS:CN484737 {source="MONDO:equivalentTo"} is_a: EFO:0009671 {source="Orphanet:502423"} ! hereditary ataxia is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0009637 {source="Orphanet:502423"} ! inborn mitochondrial myopathy is_a: MONDO:0016803 {source="Orphanet:502423"} ! unspecified inborn mitochondrial disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN484737 property_value: exactMatch https://omim.org/entry/617675 property_value: exactMatch Orphanet:502423 [Term] id: MONDO:0044718 name: alkaline ceramidase 3 deficiency subset: ordo_disease synonym: "ACER3-related early childhood-onset progressive leukodystrophy" EXACT [Orphanet:502444] synonym: "leukodystrophy due to alkaline ceramidase 3 deficiency" EXACT [Orphanet:502444] synonym: "leukodystrophy, progressive, early childhood-onset" RELATED [OMIM:617762] synonym: "PLDECO" RELATED ABBREVIATION [OMIM:617762] xref: OMIM:617762 {source="MONDO:equivalentTo", source="Orphanet:502444"} xref: Orphanet:502444 {source="MONDO:equivalentTo", source="OMIM:617762"} xref: UMLS:CN603947 {source="MONDO:equivalentTo"} is_a: MONDO:0019046 {source="Orphanet:502444"} ! leukodystrophy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN603947 property_value: exactMatch https://omim.org/entry/617762 property_value: exactMatch Orphanet:502444 [Term] id: MONDO:0044720 name: cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome subset: ordo_disease synonym: "CABV syndrome" EXACT [Orphanet:504476] synonym: "CANVAS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614575, Orphanet:504476] synonym: "cerebellar ataxia with bilateral vestibulopathy syndrome" EXACT [Orphanet:504476] synonym: "cerebellar ataxia, neuropathy, and vestibular areflexia syndrome" EXACT [MONDO:Lexical, OMIM:614575] xref: OMIM:614575 {source="MONDO:equivalentTo"} xref: Orphanet:504476 {source="MONDO:equivalentTo"} xref: UMLS:C3281223 {source="OMIM:614575", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018751 ! hereditary otorhinolaryngologic disease is_a: MONDO:0020047 {source="Orphanet:504476"} ! autosomal recessive syndromic cerebellar ataxia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281223 property_value: exactMatch https://omim.org/entry/614575 property_value: exactMatch Orphanet:504476 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4894 xsd:anyURI [Term] id: MONDO:0044724 name: 3-methylglutaconic aciduria type 9 subset: ordo_disease synonym: "3-Methylglutaconic aciduria, type 9" RELATED [OMIM:617698] synonym: "3-METHYLGLUTACONIC aciduria, type IX" RELATED [OMIM:617698] synonym: "3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome" EXACT [Orphanet:505216] synonym: "3-methylglutaconic acuduria type IX" RELATED [DOID:0070002] synonym: "3-methylglutaconic acuduria type IX, MGCA9" EXACT [DOID:0070002] synonym: "MGA9" EXACT ABBREVIATION [Orphanet:505216] synonym: "MGCA9" RELATED ABBREVIATION [OMIM:617698] xref: DOID:0070002 {source="MONDO:equivalentTo"} xref: OMIM:617698 {source="MONDO:equivalentTo", source="Orphanet:505216"} xref: Orphanet:505216 {source="OMIM:617698", source="MONDO:equivalentTo"} xref: UMLS:CN510468 {source="MONDO:equivalentTo"} is_a: MONDO:0017359 {source="OMIM:617698", source="Orphanet:505216"} ! 3-methylglutaconic aciduria relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare property_value: exactMatch DOID:0070002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN510468 property_value: exactMatch https://omim.org/entry/617698 property_value: exactMatch Orphanet:505216 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:505216"} [Term] id: MONDO:0044725 name: combined immunodeficiency due to GINS1 deficiency subset: ordo_disease synonym: "CID due to GINS1 deficiency" EXACT [Orphanet:505227] synonym: "combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia" EXACT [Orphanet:505227] synonym: "combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia" EXACT [Orphanet:505227] synonym: "IMD55" RELATED ABBREVIATION [OMIM:617827] synonym: "immunodeficiency 55" RELATED [OMIM:617827] xref: DOID:0111993 {source="MONDO:equivalentTo"} xref: OMIM:617827 {source="MONDO:equivalentTo", source="Orphanet:505227"} xref: Orphanet:505227 {source="MONDO:equivalentTo", source="OMIM:617827"} xref: UMLS:CN737162 {source="MONDO:equivalentTo"} is_a: MONDO:0021094 {source="OMIM:617827"} ! immunodeficiency disease property_value: exactMatch DOID:0111993 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN737162 property_value: exactMatch https://omim.org/entry/617827 property_value: exactMatch Orphanet:505227 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3191 xsd:anyURI [Term] id: MONDO:0044726 name: psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome subset: ordo_disease synonym: "BILAPES" RELATED ABBREVIATION [OMIM:617595] synonym: "Birk-Landau-Perez syndrome" RELATED [OMIM:617595] synonym: "Cerebrorenal syndrome, Perez type" EXACT [Orphanet:505242] xref: OMIM:617595 {source="MONDO:equivalentTo", source="Orphanet:505242"} xref: Orphanet:505242 {source="MONDO:equivalentTo", source="OMIM:617595"} xref: UMLS:CN353477 {source="MONDO:equivalentTo"} is_a: MONDO:0015962 {source="Orphanet:505242"} ! inherited renal tubular disease is_a: MONDO:0017764 {source="Orphanet:505242"} ! disorder of zinc metabolism is_a: MONDO:0024237 {source="Orphanet:505242"} ! inherited neurodegenerative disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN353477 property_value: exactMatch https://omim.org/entry/617595 property_value: exactMatch Orphanet:505242 [Term] id: MONDO:0044727 name: pancreatic carcinoma with mixed differentiation def: "A rare carcinoma with a poor prognosis, characterized by the presence of a mixture of exocrine and neuroendocrine malignant epithelial cells in both the pancreas and metastatic sites. Symptoms include jaundice, abdominal pain, and weight loss." [NCIT:C45843] subset: ordo_disease synonym: "MiNEN of pancreas" EXACT [Orphanet:506112] synonym: "mixed exocrine-endocrine carcinoma of the pancreas" EXACT [NCIT:C45843] synonym: "mixed neuroendocrine-nonneuroendocrine neoplasm of pancreas" RELATED [Orphanet:506112] synonym: "pancreatic carcinoma with mixed differentiation" EXACT [NCIT:C45843] synonym: "pancreatic MiNEN" EXACT [Orphanet:506112] synonym: "pancreatic mixed neuroendocrine-nonneuroendocrine neoplasm" EXACT [Orphanet:506112] xref: NCIT:C45843 {source="MONDO:equivalentTo"} xref: Orphanet:506112 {source="MONDO:equivalentTo"} xref: UMLS:C1709050 {source="MONDO:equivalentTo"} is_a: EFO:0002618 {source="MONDO:Redundant", source="NCIT:C45843"} ! pancreatic carcinoma is_a: EFO:1000219 {source="MONDO:Redundant", source="NCIT:C45843"} ! Digestive System Mixed Adenoneuroendocrine Carcinoma intersection_of: EFO:0002618 {source="NCIT:C45843"} ! pancreatic carcinoma intersection_of: EFO:1000219 {source="NCIT:C45843"} ! Digestive System Mixed Adenoneuroendocrine Carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709050 property_value: exactMatch NCIT:C45843 property_value: exactMatch Orphanet:506112 [Term] id: MONDO:0044738 name: Gabriele de Vries syndrome subset: ordo_malformation_syndrome synonym: "Gabriele-De Vries syndrome" RELATED [OMIM:617557] synonym: "Gabriele-de Vries syndrome" RELATED [OMIM:617557] synonym: "GADEVS" RELATED ABBREVIATION [OMIM:617557] synonym: "YY1 haploinsufficiency syndrome" EXACT [Orphanet:506358] xref: OMIM:617557 {source="MONDO:equivalentTo", source="Orphanet:506358"} xref: Orphanet:506358 {source="OMIM:617557", source="MONDO:equivalentTo"} xref: UMLS:C4479652 {source="OMIM:617557", source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:506358"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479652 property_value: exactMatch https://omim.org/entry/617557 property_value: exactMatch Orphanet:506358 property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:506358"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0044743 name: major salivary gland cancer def: "A primary or metastatic malignant neoplasm affecting the major salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma." [NCIT:C4762] synonym: "cancer of major salivary gland" EXACT [MONDO:patterns/cancer] synonym: "malignant major salivary gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4762] synonym: "malignant major salivary gland tumor" EXACT [NCIT:C4762] synonym: "malignant major salivary gland tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of major salivary gland" EXACT [MONDO:patterns/cancer, NCIT:C4762] synonym: "malignant neoplasm of major salivary glands" RELATED [] synonym: "malignant neoplasm of the major salivary gland" EXACT [NCIT:C4762] synonym: "malignant tumor of major salivary gland" EXACT [NCIT:C4762] synonym: "malignant tumor of the major salivary gland" EXACT [NCIT:C4762] synonym: "malignant tumour of major salivary gland" EXACT OMO:0003005 [] synonym: "malignant tumour of the major salivary gland" EXACT OMO:0003005 [] xref: NCIT:C4762 {source="MONDO:equivalentTo"} xref: SCTID:363378008 {source="MONDO:equivalentTo"} xref: UMLS:C0496763 {source="MONDO:equivalentTo", source="NCIT:C4762"} is_a: MONDO:0004669 {source="MONDO:Redundant", source="NCIT:C4762"} ! salivary gland cancer is_a: MONDO:0021368 {source="MONDO:Redundant", source="NCIT:C4762"} ! neoplasm of major salivary gland property_value: exactMatch http://identifiers.org/snomedct/363378008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0496763 property_value: exactMatch NCIT:C4762 [Term] id: MONDO:0044744 name: prekallikrein deficiency def: "A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease." [NCIT:C99022] synonym: "prekallikrein deficiency" EXACT [NCIT:C99022] xref: NCIT:C99022 {source="MONDO:equivalentTo"} xref: SCTID:48976006 {source="MONDO:equivalentTo"} is_a: EFO:0009314 ! blood coagulation disease property_value: exactMatch http://identifiers.org/snomedct/48976006 property_value: exactMatch NCIT:C99022 [Term] id: MONDO:0044750 name: lassa virus infectious disease synonym: "infection caused by Lassa virus" EXACT [] synonym: "Lassa virus infection" EXACT [] xref: SCTID:721779001 {source="MONDO:equivalentTo"} xref: UMLS:C1617072 {source="MONDO:equivalentTo"} is_a: EFO:0007150 {source="MONDO:Redundant"} ! Arenaviridae infectious disease property_value: exactMatch http://identifiers.org/snomedct/721779001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1617072 [Term] id: MONDO:0044751 name: chronic diarrheal disease def: "Chronic form of diarrheal disease." [MONDO:patterns/chronic] synonym: "chronic diarrhea" EXACT [] synonym: "chronic diarrhoea" EXACT OMO:0003005 [] synonym: "diarrheal disease, chronic" EXACT [MONDO:patterns/chronic] xref: SCTID:236071009 {source="MONDO:equivalentTo"} xref: UMLS:C0401151 {source="MONDO:equivalentTo"} is_a: MONDO:0001673 ! diarrheal disease property_value: exactMatch http://identifiers.org/snomedct/236071009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0401151 [Term] id: MONDO:0044765 name: steroid-resistant nephrotic syndrome def: "Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids." [NCIT:C122798] synonym: "nephrotic syndrome of childhood - steroid resistant" EXACT [NCIT:C122798] synonym: "nephrotic syndrome, idiopathic, steroid-resistant" NARROW [GTR:AN0096391] synonym: "nephrotic syndrome, steroid-resistant, autosomal recessive" NARROW [GTR:AN0096395] synonym: "nephrotic syndrome-steroid-resistant" EXACT [NCIT:C122798] synonym: "NPHS2" RELATED ABBREVIATION [GTR:AN0200342] synonym: "SRNS - steroid-resistant nephrotic syndrome" RELATED [] synonym: "steroid-resistant nephrotic syndrome" EXACT [GTR:AN0255485] synonym: "steroid-unresponsive nephrotic syndrome" RELATED [] xref: GTR:AN0096391 xref: GTR:AN0096395 xref: GTR:AN0200342 xref: GTR:AN0255485 xref: NCIT:C122798 {source="MONDO:equivalentTo"} xref: SCTID:236381000 {source="MONDO:equivalentTo"} xref: UMLS:CN034406 {source="MONDO:equivalentTo"} is_a: EFO:0004255 {source="NCIT:C122798"} ! nephrotic syndrome property_value: exactMatch http://identifiers.org/snomedct/236381000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN034406 property_value: exactMatch NCIT:C122798 [Term] id: MONDO:0044782 name: esophageal ulcer def: "An ulcerated lesion in the esophageal wall." [NCIT:C26950] synonym: "esophageal ulcer" EXACT [NCIT:C26950] synonym: "esophagus ulcer" EXACT [] synonym: "esophagus ulcer disease" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "oesophagus ulcer" EXACT OMO:0003005 [] synonym: "oesophagus ulcer disease" EXACT OMO:0003005 [] synonym: "ulcer disease of esophagus" EXACT [MONDO:design_pattern] synonym: "ulcer disease of oesophagus" EXACT OMO:0003005 [] xref: HP:0004791 {source="MONDO:otherHierarchy"} xref: NCIT:C26950 {source="MONDO:equivalentTo"} is_a: EFO:0009544 {source="MONDO:Redundant", source="NCIT:C26950/inferred"} ! esophageal disease is_a: MONDO:0043839 ! ulcer disease property_value: exactMatch NCIT:C26950 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0044784 name: myxoma def: "A benign soft tissue neoplasm characterized by the presence of spindle and stellate cells, lobulated growth pattern, and myxoid stroma formation." [NCIT:C6577] synonym: "Myxoma" EXACT [NCIT:C6577] synonym: "MYXOMA, BENIGN" EXACT [NCIT:C6577] xref: MESH:D009232 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: NCIT:C6577 {source="ONCOTREE:MYXO", source="MONDO:equivalentTo"} xref: ONCOTREE:MYXO {source="MONDO:equivalentTo"} xref: SCTID:404082003 {source="MONDO:equivalentTo"} is_a: MONDO:0044335 {source="NCIT:C6577/inferred"} ! benign soft tissue neoplasm property_value: exactMatch http://identifiers.org/mesh/D009232 property_value: exactMatch http://identifiers.org/snomedct/404082003 property_value: exactMatch NCIT:C6577 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5537 xsd:anyURI [Term] id: MONDO:0044785 name: desmoplastic melanoma def: "A melanoma of the skin characterized by a proliferation of atypical spindled melanocytes in the dermis, in a background of abundant collagen. It usually presents as an amelanotic raised nodular lesion." [NCIT:C37257] synonym: "desmoplastic cutaneous (skin) melanoma" EXACT [NCIT:C37257] synonym: "desmoplastic melanoma" EXACT [NCIT:C37257] xref: NCIT:C37257 {source="MONDO:equivalentTo", source="ONCOTREE:DESM"} xref: ONCOTREE:DESM {source="MONDO:equivalentTo"} is_a: EFO:0000389 {source="NCIT:C37257"} ! cutaneous melanoma is_a: EFO:1000546 {source="NCIT:C37257"} ! Spindle Cell Melanoma is_a: MONDO:0020663 ! malignant spindle cell neoplasm property_value: exactMatch NCIT:C37257 [Term] id: MONDO:0044787 name: nasal cavity and paranasal sinus squamous cell carcinoma def: "A rare, keratinizing or non-keratinizing squamous cell carcinoma arising from the mucosal epithelium of the nasal cavity or the paranasal sinuses. It affects most often the maxillary sinus. Less frequently, it arises from the nasal cavity, ethmoid sinus, sphenoid sinus, and frontal sinus. Symptoms include nasal fullness, epistaxis, rhinorhea, pain, and paresthesia. Patients with nasal squamous cell carcinoma usually present earlier than patients with maxillary sinus carcinoma and have a better prognosis compared to the latter group." [NCIT:C68611] comment: Editor note: TODO add uberon term synonym: "nasal cavity and paranasal sinus squamous cell cancer" EXACT [NCIT:C68611] synonym: "nasal cavity and paranasal sinus squamous cell carcinoma" EXACT [NCIT:C68611] xref: NCIT:C68611 {source="MONDO:equivalentTo"} xref: UMLS:C0280332 {source="MONDO:equivalentTo"} is_a: EFO:0000181 {source="NCIT:C68611"} ! head and neck squamous cell carcinoma is_a: MONDO:0056819 {source="NCIT:C68611"} ! nasal cavity and paranasal sinus carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280332 property_value: exactMatch NCIT:C68611 [Term] id: MONDO:0044791 name: combined hepatocellular carcinoma and cholangiocarcinoma def: "A rare tumor containing unequivocal elements of both hepatocellular and cholangiocarcinoma that are intimately admixed. This tumor should be distinguished from separate hepatocellular carcinoma and cholangiocarcinoma arising in the same liver. The prognosis of this tumor is poor." [NCIT:C3828] subset: ordo_disease synonym: "carcinoma of liver and intrahepatic biliary tract" BROAD [NCIT:C3828] synonym: "carcinoma of the liver and intrahepatic biliary tract" EXACT [NCIT:C3828] synonym: "Cholangiohepatoma" EXACT [NCIT:C3828] synonym: "combined hepatocellular cancer and cholangiocarcinoma (bile duct cancer)" EXACT [NCIT:C3828] synonym: "combined hepatocellular cancer and intrahepatic bile duct cancer (cholangiocarcinoma)" EXACT [NCIT:C3828] synonym: "combined hepatocellular carcinoma and cholangiocarcinoma" EXACT [NCIT:C3828] synonym: "Hepatocholangiocarcinoma" EXACT [NCIT:C3828] synonym: "liver and intrahepatic biliary tract carcinoma" BROAD [NCIT:C3828] synonym: "Mixed hepatocellular cholangiocarcinoma" EXACT [NCIT:C3828] xref: NCIT:C3828 {source="MONDO:equivalentTo"} xref: Orphanet:529852 {source="MONDO:equivalentTo"} xref: SCTID:274902006 {source="MONDO:equivalentTo"} is_a: MONDO:0018536 ! adenocarcinoma of gallbladder and extrahepatic biliary tract property_value: exactMatch http://identifiers.org/snomedct/274902006 property_value: exactMatch NCIT:C3828 property_value: exactMatch Orphanet:529852 [Term] id: MONDO:0044792 name: large congenital melanocytic nevus def: "A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation." [Orphanet:626] subset: gard_rare subset: ordo_disease synonym: "bathing trunk nevus" EXACT [GARD:0002469, NCIT:C4234] synonym: "CMNS" RELATED ABBREVIATION [OMIM:137550] synonym: "congenital giant pigmented nevus" RELATED [GARD:0002469] synonym: "congenital hairy nevus" RELATED [GARD:0002469] synonym: "congenital melanocytic nevi" EXACT [NCIT:C3944] synonym: "congenital melanocytic nevus" EXACT [NCIT:C3944] synonym: "congenital melanocytic nevus of skin" EXACT [NCIT:C3944] synonym: "congenital melanocytic nevus of the skin" EXACT [NCIT:C3944] synonym: "congenital nevus" RELATED [ONCOTREE:SKCN] synonym: "congenital nevus of skin" EXACT [NCIT:C3944] synonym: "congenital nevus of the skin" EXACT [NCIT:C3944] synonym: "congenital pigmented melanocytic Nevus" EXACT [NCIT:C3944] synonym: "congenital pigmented nevus" EXACT [Orphanet:626] synonym: "congenital pigmented nevus of skin" EXACT [NCIT:C3944] synonym: "congenital pigmented nevus of the skin" EXACT [NCIT:C3944] synonym: "congenital pigmented skin nevus" EXACT [NCIT:C3944] synonym: "congenital skin nevus" EXACT [NCIT:C3944] synonym: "giant congenital melanocytic nevus" RELATED [GARD:0002469, Orphanet:626] synonym: "giant congenital nevus" EXACT [NCIT:C4234] synonym: "giant congenital pigmented Nevus" RELATED [OMIM:137550] synonym: "giant hairy nevus" RELATED [GARD:0002469] synonym: "giant pigmented hairy nevus" EXACT [GARD:0002469, OMIM:137550, Orphanet:626] synonym: "giant pigmented nevus" RELATED [GARD:0002469] synonym: "giant pigmented nevus of skin" EXACT [NCIT:C4234] synonym: "giant pigmented nevus of the skin" EXACT [NCIT:C4234] synonym: "GMN" EXACT ABBREVIATION [Orphanet:626] synonym: "GPHN" RELATED ABBREVIATION [GARD:0002469] synonym: "large congenital melanocytic nevus" EXACT [GARD:0002469] synonym: "LCMN" EXACT ABBREVIATION [Orphanet:626] synonym: "melanocytic nevus syndrome, congenital" RELATED [OMIM:137550] synonym: "melanocytic nevus syndrome, congenital, somatic" EXACT [OMIM:137550, OMIM:genemap2] synonym: "nevus spilus" RELATED [OMIM:137550] synonym: "pigmented moles" RELATED [OMIM:137550] synonym: "spitz nevus" RELATED [OMIM:137550] synonym: "spitz nevus or nevus spilus, somatic" EXACT [OMIM:137550, OMIM:genemap2] xref: DOID:0111359 {source="MONDO:equivalentTo"} xref: ICDO:8761/1 {source="NCIT:C4234"} xref: MedDRA:10072036 {source="Orphanet:626", source="Orphanet:626/e"} xref: NCIT:C3944 {source="MONDO:equivalentTo"} xref: NCIT:C4234 {source="MONDO:equivalentTo"} xref: OMIM:137550 {source="MONDO:equivalentTo", source="GARD:0002469", source="Orphanet:626"} xref: ONCOTREE:SKCN {source="MONDO:equivalentTo"} xref: Orphanet:626 {source="OMIM:137550", source="MONDO:equivalentTo", source="GARD:0002469"} xref: SCTID:254815002 {source="MONDO:equivalentTo"} xref: SCTID:398696001 {source="MONDO:equivalentTo"} xref: UMLS:C1318558 {source="MONDO:equivalentTo", source="Orphanet:626", source="Orphanet:626/e"} xref: UMLS:C1842036 {source="OMIM:137550", source="MONDO:equivalentTo", source="NCIT:C4234", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:626", source="Orphanet:626/e"} is_a: EFO:0009675 {source="MONDO:Redundant", source="MONDO:cjm", source="NCIT:C3944", source="NCIT:C4234/inferred", source="Orphanet:626"} ! melanocytic nevus is_a: MONDO:0015950 {source="Orphanet:626"} ! inherited skin tumor relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: closeMatch http://identifiers.org/meddra/10072036 property_value: exactMatch DOID:0111359 property_value: exactMatch http://identifiers.org/snomedct/254815002 property_value: exactMatch http://identifiers.org/snomedct/398696001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1318558 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842036 property_value: exactMatch https://omim.org/entry/137550 property_value: exactMatch NCIT:C3944 property_value: exactMatch NCIT:C4234 property_value: exactMatch Orphanet:626 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4659 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2469/giant-congenital-nevus xsd:anyURI {source="GARD:0002469"} [Term] id: MONDO:0044793 name: spitz nevus def: "A benign, acquired or congenital, usually single skin lesion. It can occur on any area of the body, but most commonly occurs on the face of children and the thighs of young females. It is characterized by a proliferation of large spindle, oval, or large epithelioid melanocytes in the dermal-epidermal junction. The melanocytic proliferation subsequently extends into the dermis." [NCIT:C27007] subset: gard_rare synonym: "benign juvenile melanoma" EXACT [NCIT:C27007] synonym: "juvenile nevus" EXACT [NCIT:C27007] synonym: "spindle and/ or epithelioid cell Nevus" EXACT [NCIT:C27007] synonym: "spitz naevus" RELATED [GARD:0010412] synonym: "spitz nevi" RELATED [GARD:0010412] synonym: "spitz nevus" EXACT [NCIT:C27007] xref: ICDO:8770/0 {source="NCIT:C27007"} xref: NCIT:C27007 {source="MONDO:equivalentTo"} is_a: MONDO:0044794 {source="NCIT:C27007"} ! benign melanocytic skin nevus property_value: exactMatch NCIT:C27007 [Term] id: MONDO:0044794 name: benign melanocytic skin nevus def: "A benign, circumscribed proliferation of melanocytes in the skin. Variants include the Spitz nevus, halo nevus, blue nevus, and balloon cell nevus." [NCIT:C7571] comment: Editor note: TODO logical def synonym: "benign melanocytic nevus" EXACT [NCIT:C7571] synonym: "benign melanocytic nevus of skin" EXACT [NCIT:C7571] synonym: "benign melanocytic nevus of the skin" EXACT [NCIT:C7571] synonym: "benign melanocytic skin nevus" EXACT [NCIT:C7571] synonym: "benign mole" EXACT [NCIT:C7571] synonym: "benign nevus of skin" EXACT [NCIT:C7571] synonym: "benign nevus of the skin" EXACT [NCIT:C7571] synonym: "benign skin nevus" EXACT [NCIT:C7571] xref: NCIT:C7571 {source="MONDO:equivalentTo"} xref: UMLS:C1456781 {source="MONDO:equivalentTo"} is_a: EFO:0009675 {source="NCIT:C7571"} ! melanocytic nevus property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1456781 property_value: exactMatch NCIT:C7571 [Term] id: MONDO:0044807 name: inherited dystonia def: "An instance of dystonic disorder that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:391799"} synonym: "familial dystonia" EXACT [NCIT:C35527] synonym: "hereditary dystonic disorder" EXACT [MONDO:patterns/hereditary] synonym: "rare genetic dystonia" EXACT [MONDO:0018331] synonym: "rare genetic dystonic disorder" EXACT [Orphanet:391799] xref: NCIT:C35527 {source="MONDO:equivalentTo"} xref: OMIMPS:128100 {source="MONDO:equivalentTo"} xref: Orphanet:391799 {source="MONDO:equivalentTo"} xref: UMLS:CN227322 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0003441 {source="NCIT:C35527"} ! dystonic disorder intersection_of: MONDO:0003441 ! dystonic disorder intersection_of: has_characteristic MONDO:0021152 ! inherited relationship: has_characteristic MONDO:0021136 {source="MONDO:0015957"} ! rare property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227322 property_value: exactMatch https://omim.org/phenotypicSeries/PS128100 property_value: exactMatch NCIT:C35527 property_value: exactMatch Orphanet:391799 [Term] id: MONDO:0044877 name: paraneoplastic cerebellar degeneration def: "A rare, immune-mediated disorder characterized by cerebellar degeneration due to the presence of an often undetected malignancy (usually carcinoma or lymphoma) in an anatomic site other than the cerebellum. Signs and symptoms include progressive ataxia, dysarthria, and nystagmus." [NCIT:C4685] synonym: "paraneoplastic cerebellar degeneration" EXACT [NCIT:C4685] xref: MESH:D020362 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: NCIT:C4685 {source="MONDO:equivalentTo"} xref: Orphanet:623626 {source="MONDO:equivalentTo"} is_a: MONDO:0018215 ! paraneoplastic neurologic syndrome is_a: MONDO:0022687 {source="MONDO:Redundant", source="NCIT:C4685"} ! cerebellar degeneration intersection_of: MONDO:0021073 ! paraneoplastic syndrome intersection_of: MONDO:0022687 ! cerebellar degeneration property_value: exactMatch http://identifiers.org/mesh/D020362 property_value: exactMatch NCIT:C4685 property_value: exactMatch Orphanet:623626 [Term] id: MONDO:0044881 name: hematopoietic and lymphoid cell neoplasm def: "A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, myeloproliferative neoplasms, and myelodysplastic syndromes." [NCIT:C27134] synonym: "haematological neoplasm" EXACT OMO:0003005 [] synonym: "haematological tumour" EXACT OMO:0003005 [] synonym: "haematopoietic and lymphoid neoplasms" EXACT OMO:0003005 [] synonym: "haematopoietic cancer" EXACT OMO:0003005 [] synonym: "haematopoietic cell tumour" EXACT OMO:0003005 [] synonym: "haematopoietic malignancy, NOS" EXACT OMO:0003005 [] synonym: "haematopoietic neoplasm" EXACT OMO:0003005 [] synonym: "haematopoietic neoplasms including lymphomas" EXACT OMO:0003005 [] synonym: "haematopoietic tumour" EXACT OMO:0003005 [] synonym: "hematologic cancer" EXACT [NCIT:C27134] synonym: "hematologic malignancy" EXACT [NCIT:C27134] synonym: "hematologic neoplasm" EXACT [NCIT:C27134] synonym: "hematological neoplasm" EXACT [NCIT:C27134] synonym: "hematological tumor" EXACT [NCIT:C27134] synonym: "hematopoietic and lymphoid cell neoplasm" EXACT [NCIT:C27134] synonym: "hematopoietic and lymphoid neoplasms" EXACT [NCIT:C27134] synonym: "hematopoietic cancer" EXACT [NCIT:C27134] synonym: "hematopoietic cell tumor" EXACT [NCIT:C27134] synonym: "hematopoietic malignancy, NOS" EXACT [NCIT:C27134] synonym: "hematopoietic neoplasm" EXACT [NCIT:C27134] synonym: "hematopoietic neoplasms including lymphomas" EXACT [NCIT:C27134] synonym: "hematopoietic tumor" EXACT [NCIT:C27134] synonym: "hematopoietic, Including myeloma" EXACT [NCIT:C27134] synonym: "HEMOLYMPHORETICULAR tumor, malignant" EXACT [NCIT:C27134] synonym: "malignant haematopoietic neoplasm" EXACT OMO:0003005 [] synonym: "malignant hematologic neoplasm" EXACT [NCIT:C27134] synonym: "malignant hematopoietic neoplasm" EXACT [NCIT:C27134] xref: NCIT:C27134 {source="MONDO:equivalentTo"} is_a: MONDO:0002334 {source="MONDO:Redundant", source="NCIT:C27134"} ! hematopoietic and lymphoid system neoplasm property_value: exactMatch NCIT:C27134 [Term] id: MONDO:0044887 name: central nervous system non-hodgkin lymphoma def: "A non-Hodgkin lymphoma that arises from the central nervous system." [NCIT:C114779] synonym: "Central nervous system non-Hodgkin lymphoma" EXACT [NCIT:C114779] synonym: "central nervous system non-Hodgkin lymphoma" EXACT [MONDO:patterns/location] synonym: "non-Hodgkin lymphoma of central nervous system" EXACT [MONDO:design_pattern] synonym: "Primary Central nervous system non-Hodgkin lymphoma" EXACT [NCIT:C114779] xref: NCIT:C114779 {source="MONDO:equivalentTo"} xref: SCTID:448254007 {source="MONDO:equivalentTo"} xref: UMLS:C2213246 {source="MONDO:equivalentTo"} is_a: EFO:1000157 {source="MONDO:Redundant", source="NCIT:C114779"} ! Central Nervous System Lymphoma is_a: EFO:1001938 ! B-cell non-Hodgkins lymphoma property_value: exactMatch http://identifiers.org/snomedct/448254007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2213246 property_value: exactMatch NCIT:C114779 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0044889 name: high grade B-cell lymphoma def: "A term that refers to high grade B-cell lymphoma, not otherwise specified or high grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements." [NCIT:C138211] synonym: "HGBL" EXACT ABBREVIATION [NCIT:C138211] synonym: "high grade B-cell lymphoma" EXACT [NCIT:C138211] synonym: "high-grade B-cell lymphoma" EXACT [NCIT:C138211] xref: NCIT:C138211 {source="MONDO:equivalentTo"} xref: SCTID:277617004 {source="MONDO:equivalentTo"} xref: UMLS:C0456863 {source="MONDO:equivalentTo"} is_a: EFO:0000403 {source="MONDO:Redundant", source="NCIT:C138211"} ! diffuse large B-cell lymphoma intersection_of: EFO:0000403 {source="NCIT:C138211"} ! diffuse large B-cell lymphoma intersection_of: has_characteristic MONDO:0024497 {source="NCIT:C138211"} ! tumor grade 3 or 4, general grading system relationship: has_characteristic MONDO:0024497 {source="NCIT:C138211"} ! tumor grade 3 or 4, general grading system property_value: exactMatch http://identifiers.org/snomedct/277617004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0456863 property_value: exactMatch NCIT:C138211 [Term] id: MONDO:0044903 name: myelofibrosis def: "A partial or complete replacement of the bone marrow stroma by fibrous tissue. It can be a primary bone marrow lesion as part of the chronic myeloproliferative disorders (chronic idiopathic myelofibrosis), a manifestation of acute myeloid leukemia (acute panmyelosis with myelofibrosis), or a secondary phenomenon due to bone marrow involvement by a metastatic tumor (e.g., metastatic breast carcinoma). --2003" [NCIT:C3248] synonym: "myelofibrosis" EXACT [NCIT:C3248] xref: NCIT:C3248 {source="MONDO:equivalentTo"} is_a: MONDO:0003225 {source="NCIT:C3248"} ! bone marrow disorder property_value: exactMatch NCIT:C3248 [Term] id: MONDO:0044915 name: salivary duct carcinoma def: "An aggressive, high grade adenocarcinoma that arises from the salivary glands. It usually affects elderly males and presents as a rapidly enlarging mass. It metastasizes to regional lymph nodes and distant anatomic sites." [NCIT:C5904] synonym: "carcinoma of duct of salivary gland" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of salivary duct" EXACT [NCIT:C5904] synonym: "carcinoma of the salivary duct" EXACT [NCIT:C5904] synonym: "duct of salivary gland carcinoma" EXACT [] synonym: "high grade salivary duct carcinoma" EXACT [NCIT:C5904] synonym: "salivary duct carcinoma" EXACT [NCIT:C5904] xref: NCIT:C5904 {source="MONDO:equivalentTo"} xref: ONCOTREE:SDCA {source="MONDO:equivalentTo"} xref: UMLS:C1301194 {source="MONDO:equivalentTo"} is_a: EFO:1000210 {source="NCIT:C5904"} ! Cribriform Carcinoma is_a: MONDO:0000521 ! salivary gland carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1301194 property_value: exactMatch NCIT:C5904 [Term] id: MONDO:0044916 name: extrarenal rhabdoid tumor def: "A rhabdoid tumor which arises in the soft tissues. It occurs in infants and children and may be associated with loss of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm." [NCIT:C6586] synonym: "extrarenal rhabdoid tumor" EXACT [NCIT:C6586] synonym: "malignant extrarenal rhabdoid neoplasm" EXACT [NCIT:C6586] synonym: "rhabdoid tumor of soft tissue" EXACT [NCIT:C6586] synonym: "rhabdoid tumour of soft tissue" EXACT OMO:0003005 [] xref: NCIT:C6586 {source="MONDO:equivalentTo"} xref: SCTID:404089007 {source="MONDO:equivalentTo"} xref: UMLS:C1304517 {source="MONDO:equivalentTo"} is_a: EFO:0005701 {source="NCIT:C6586"} ! malignant rhabdoid tumour is_a: EFO:1000654 {source="NCIT:C6586"} ! childhood cancer property_value: exactMatch http://identifiers.org/snomedct/404089007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1304517 property_value: exactMatch NCIT:C6586 [Term] id: MONDO:0044917 name: T-lymphoblastic lymphoma def: "The most frequent type of lymphoblastic lymphoma. It comprises approximately 85-90% of cases. It is more frequently seen in adolescent males. It frequently presents with a mass lesion in the mediastinum. Pleural effusions are common. (WHO, 2001)" [NCIT:C6919] synonym: "Precur. T-lymphoblastic lymphoma" EXACT [NCIT:C6919] synonym: "precursor T Lymphoblastic lymphoma" EXACT [NCIT:C6919] synonym: "precursor T-cell Lymphoblastic lymphoma" EXACT [NCIT:C6919] synonym: "precursor T-Lymphoblastic lymphoma" EXACT [NCIT:C6919] synonym: "precursor T-lymphoblastic lymphoma" EXACT [NCIT:C6919] synonym: "T Lymphoblastic lymphoma" EXACT [NCIT:C6919] synonym: "T-Lymphoblastic lymphoma" EXACT [NCIT:C6919] synonym: "T-lymphoblastic lymphoma" EXACT [NCIT:C6919] xref: EFO:1001830 {source="MONDO:equivalentTo"} xref: NCIT:C6919 {source="MONDO:equivalentTo"} xref: SCTID:421246008 {source="MONDO:equivalentTo"} is_a: MONDO:0000873 {source="NCIT:C6919"} ! lymphoblastic lymphoma is_a: MONDO:0003537 {source="NCIT:C6919"} ! precursor T-lymphoblastic lymphoma/leukemia is_a: MONDO:0015760 {source="NCIT:C6919"} ! T-cell non-Hodgkin lymphoma property_value: exactMatch http://identifiers.org/snomedct/421246008 property_value: exactMatch NCIT:C6919 [Term] id: MONDO:0044919 name: malignant renal pelvis neoplasm def: "A primary or metastatic malignant neoplasm that affects the renal pelvis." [NCIT:C7525] synonym: "cancer of renal pelvis" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of renal pelvis" EXACT [MONDO:patterns/cancer, NCIT:C7525] synonym: "malignant neoplasm of the renal pelvis" EXACT [NCIT:C7525] synonym: "malignant renal pelvis neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7525] synonym: "malignant renal pelvis tumor" EXACT [NCIT:C7525] synonym: "malignant renal pelvis tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of renal pelvis" EXACT [NCIT:C7525] synonym: "malignant tumor of the renal pelvis" EXACT [NCIT:C7525] synonym: "malignant tumour of renal pelvis" EXACT OMO:0003005 [] synonym: "malignant tumour of the renal pelvis" EXACT OMO:0003005 [] synonym: "renal pelvis cancer" EXACT [] xref: NCIT:C7525 {source="MONDO:equivalentTo"} is_a: MONDO:0002367 {source="MONDO:Redundant", source="NCIT:C7525"} ! kidney cancer is_a: MONDO:0003719 {source="MONDO:Redundant", source="NCIT:C7525"} ! renal pelvis neoplasm property_value: exactMatch NCIT:C7525 [Term] id: MONDO:0044925 name: oral cavity carcinoma def: "A carcinoma arising in the oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma." [NCIT:C8990] synonym: "carcinoma of mouth" EXACT [NCIT:C8990] synonym: "carcinoma of oral cavity" EXACT [MONDO:patterns/carcinoma, NCIT:C8990] synonym: "carcinoma of the oral cavity" EXACT [NCIT:C8990] synonym: "mouth carcinoma" EXACT [NCIT:C8990] synonym: "oral cavity cancer" BROAD [NCIT:C8990] synonym: "oral cavity carcinoma" EXACT [NCIT:C8990] xref: NCIT:C8990 {source="MONDO:equivalentTo"} xref: UMLS:C0151546 {source="MONDO:equivalentTo"} is_a: EFO:0005570 {source="MONDO:Redundant", source="NCIT:C8990"} ! oral cavity cancer is_a: EFO:1000218 ! Digestive System Carcinoma is_a: MONDO:0023644 {source="NCIT:C8990"} ! lip and oral cavity carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151546 property_value: exactMatch NCIT:C8990 [Term] id: MONDO:0044926 name: oropharyngeal carcinoma def: "Carcinoma, predominantly squamous cell, arising from the epithelial cells of the oropharynx." [NCIT:C9105] synonym: "cancer of oropharynx" BROAD [NCIT:C9105] synonym: "cancer of the oropharynx" BROAD [NCIT:C9105] synonym: "carcinoma of oropharynx" EXACT [MONDO:patterns/carcinoma, NCIT:C9105] synonym: "carcinoma of the oropharynx" EXACT [NCIT:C9105] synonym: "oropharyngeal cancer" BROAD [NCIT:C9105] synonym: "oropharyngeal carcinoma" EXACT [NCIT:C9105] synonym: "oropharyngeal throat cancer" BROAD [NCIT:C9105] synonym: "oropharynx carcinoma" EXACT [NCIT:C9105] xref: NCIT:C9105 {source="MONDO:equivalentTo"} is_a: EFO:1001931 {source="MONDO:Redundant", source="NCIT:C9105"} ! oropharynx cancer is_a: MONDO:0002038 ! head and neck carcinoma is_a: MONDO:0021345 {source="MONDO:Redundant", source="NCIT:C9105"} ! carcinoma of pharynx property_value: exactMatch NCIT:C9105 [Term] id: MONDO:0044937 name: rectal carcinoma def: "A malignant epithelial neoplasm that arises from the rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." [NCIT:C9382] synonym: "cancer of rectum" BROAD [NCIT:C9382] synonym: "cancer of the rectum" BROAD [NCIT:C9382] synonym: "carcinoma of rectum" EXACT [MONDO:patterns/carcinoma, NCIT:C9382] synonym: "carcinoma of the rectum" EXACT [NCIT:C9382] synonym: "rectal cancer" BROAD [NCIT:C9382] synonym: "rectal carcinoma" EXACT [NCIT:C9382] synonym: "rectum carcinoma" EXACT [] xref: NCIT:C9382 {source="MONDO:equivalentTo"} is_a: EFO:1000657 {source="MONDO:Redundant", source="NCIT:C9382"} ! rectum cancer is_a: EFO:1001951 {source="MONDO:Redundant", source="NCIT:C9382"} ! colorectal carcinoma is_a: MONDO:0024476 ! epithelial neoplasm of rectum property_value: exactMatch NCIT:C9382 [Term] id: MONDO:0044964 name: oral cavity mucoepidermoid carcinoma def: "A mucoepidermoid carcinoma arising from the minor salivary glands in the oral cavity. It is often asymptomatic and detected during a routine dental examination." [NCIT:C8177] synonym: "mucoepidermoid carcinoma of oral cavity" EXACT [NCIT:C8177] synonym: "mucoepidermoid carcinoma of the oral cavity" EXACT [NCIT:C8177] synonym: "oral cavity mucoepidermoid cancer" EXACT [NCIT:C8177] synonym: "oral cavity mucoepidermoid carcinoma" EXACT [NCIT:C8177] xref: NCIT:C8177 {source="MONDO:equivalentTo"} xref: UMLS:C0280309 {source="MONDO:equivalentTo"} is_a: MONDO:0003036 {source="MONDO:Redundant", source="NCIT:C8177"} ! mucoepidermoid carcinoma is_a: MONDO:0044925 {source="MONDO:Redundant", source="NCIT:C8177"} ! oral cavity carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280309 property_value: exactMatch NCIT:C8177 [Term] id: MONDO:0044965 name: obsolete abdominal and pelvic region disorder def: "OBSOLETE. A disease or disorder that involves the abdominal segment of trunk." [MONDO:design_pattern] comment: Reason: grouping class. Term to consider: none synonym: "abdominal segment of trunk disease" EXACT [MONDO:design_pattern] synonym: "abdominal segment of trunk disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "disease of abdominal segment of trunk" EXACT [MONDO:design_pattern, MONDO:patterns/location_top] synonym: "disease or disorder of abdominal segment of trunk" EXACT [] synonym: "disorder of abdominal segment of trunk" EXACT [MONDO:patterns/location_top] xref: SCTID:609618002 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C3661988 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://identifiers.org/snomedct/609618002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3661988 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4111 xsd:anyURI is_obsolete: true [Term] id: MONDO:0044970 name: mitochondrial disease subset: rare_grouping is_a: EFO:0000408 ! disease [Term] id: MONDO:0044972 name: eosinophil disorder def: "A disease or disorder that involves the eosinophil." [MONDO:design_pattern] synonym: "disease of eosinophil" EXACT [MONDO:design_pattern, MONDO:patterns/location_top] synonym: "disease or disorder of eosinophil" EXACT [] synonym: "disorder of eosinophil" EXACT [MONDO:patterns/location_top] synonym: "eosinophil disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: SCTID:417967008 {source="MONDO:equivalentTo"} xref: UMLS:C1691020 {source="MONDO:equivalentTo"} is_a: MONDO:0004805 {source="MONDO:Redundant"} ! leukocyte disorder property_value: exactMatch http://identifiers.org/snomedct/417967008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1691020 [Term] id: MONDO:0044983 name: benign lipomatous neoplasm def: "A benign mesenchymal neoplasm composed of adipose (fatty) tissue. The most common representative of this category is the lipoma." [NCIT:C4502] synonym: "adipose tissue benign connective and soft tissue neoplasm" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "benign adipose tissue neoplasm" EXACT [NCIT:C4502] synonym: "benign adipose tissue tumor" EXACT [NCIT:C4502] synonym: "benign adipose tissue tumour" EXACT OMO:0003005 [] synonym: "benign connective and soft tissue neoplasm of adipose tissue" EXACT [MONDO:design_pattern] synonym: "benign lipomatous neoplasm" EXACT [NCIT:C4502] synonym: "benign lipomatous tumor" EXACT [NCIT:C4502] synonym: "benign lipomatous tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of adipose tissue" EXACT [NCIT:C4502] synonym: "benign neoplasm of the adipose tissue" EXACT [NCIT:C4502] synonym: "benign tumor of adipose tissue" RELATED [NCIT:C4502] synonym: "benign tumor of the adipose tissue" EXACT [NCIT:C4502] synonym: "benign tumour of adipose tissue" RELATED OMO:0003005 [] synonym: "benign tumour of the adipose tissue" EXACT OMO:0003005 [] xref: NCIT:C4502 {source="MONDO:equivalentTo"} is_a: MONDO:0000654 {source="MONDO:Redundant", source="NCIT:C4502"} ! benign connective and soft tissue neoplasm is_a: MONDO:0021354 {source="MONDO:Redundant", source="NCIT:C4502"} ! tumor of adipose tissue property_value: exactMatch NCIT:C4502 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0044986 name: lymphoid system disorder def: "A disease or disorder that involves the lymphoid system." [MONDO:patterns/location] synonym: "disease of lymphoid system" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of lymphoid system" EXACT [] synonym: "disorder of lymphoid system" EXACT [MONDO:design_pattern, MONDO:patterns/location_top] synonym: "lymphoid system disease" EXACT [MONDO:design_pattern] synonym: "lymphoid system disease or disorder" EXACT [MONDO:patterns/location] xref: SCTID:111590001 {source="MONDO:equivalentTo"} is_a: EFO:0000540 ! immune system disease property_value: exactMatch http://identifiers.org/snomedct/111590001 [Term] id: MONDO:0044991 name: upper digestive tract disorder def: "A disease or disorder that involves the upper digestive tract." [MONDO:patterns/location] synonym: "disease of upper digestive tract" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of upper digestive tract" EXACT [] synonym: "disorder of upper digestive tract" EXACT [MONDO:design_pattern, MONDO:patterns/location_top] synonym: "disorder of upper gastrointestinal tract" EXACT [MONDO:design_pattern] synonym: "upper digestive tract disease or disorder" EXACT [MONDO:patterns/location] synonym: "upper gastrointestinal tract disease" EXACT [MONDO:design_pattern] xref: SCTID:119291004 {source="MONDO:equivalentTo"} is_a: EFO:0000408 ! disease property_value: exactMatch http://identifiers.org/snomedct/119291004 [Term] id: MONDO:0044992 name: mouth mucosa disorder def: "A disease or disorder that involves the mouth mucosa." [MONDO:patterns/location] synonym: "disease of mouth mucosa" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of mouth mucosa" EXACT [] synonym: "disorder of mouth mucosa" EXACT [MONDO:design_pattern, MONDO:patterns/location_top] synonym: "disorder of oral mucous membrane" EXACT [MONDO:design_pattern] synonym: "mouth mucosa disease or disorder" EXACT [MONDO:patterns/location] synonym: "oral mucous membrane disease" EXACT [MONDO:design_pattern] xref: SCTID:128046007 {source="MONDO:equivalentTo"} xref: UMLS:C1290071 {source="MONDO:equivalentTo"} is_a: EFO:1001047 ! mouth disease property_value: exactMatch http://identifiers.org/snomedct/128046007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1290071 [Term] id: MONDO:0044993 name: sympathetic nervous system disorder def: "A disease or disorder that involves the sympathetic nervous system." [MONDO:patterns/location] synonym: "disease of sympathetic nervous system" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of sympathetic nervous system" EXACT [] synonym: "disorder of sympathetic nervous system" EXACT [MONDO:design_pattern, MONDO:patterns/location_top] synonym: "sympathetic nervous system disease" EXACT [MONDO:design_pattern] synonym: "sympathetic nervous system disease or disorder" EXACT [MONDO:patterns/location] xref: SCTID:50330009 {source="MONDO:equivalentTo"} is_a: EFO:0009532 ! autonomic nervous system disease property_value: exactMatch http://identifiers.org/snomedct/50330009 [Term] id: MONDO:0044995 name: parasympathetic nervous system disorder def: "A disease or disorder that involves the parasympathetic nervous system." [MONDO:patterns/location] synonym: "disease of parasympathetic nervous system" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of parasympathetic nervous system" EXACT [] synonym: "disorder of parasympathetic nervous system" EXACT [MONDO:design_pattern, MONDO:patterns/location_top] synonym: "parasympathetic nervous system disease" EXACT [MONDO:design_pattern] synonym: "parasympathetic nervous system disease or disorder" EXACT [MONDO:patterns/location] xref: SCTID:46091002 {source="MONDO:equivalentTo"} is_a: EFO:0009532 ! autonomic nervous system disease property_value: exactMatch http://identifiers.org/snomedct/46091002 [Term] id: MONDO:0044996 name: cerebral cortex disorder def: "A disease or disorder that involves the cerebral cortex." [MONDO:patterns/location] synonym: "cerebral cortex disease" EXACT [MONDO:design_pattern] synonym: "cerebral cortex disease or disorder" EXACT [MONDO:patterns/location] synonym: "disease of cerebral cortex" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of cerebral cortex" EXACT [] synonym: "disorder of cerebral cortex" EXACT [MONDO:design_pattern, MONDO:patterns/location_top] xref: SCTID:128128003 {source="MONDO:equivalentTo"} xref: UMLS:C1263847 {source="MONDO:equivalentTo"} is_a: EFO:0005774 ! brain disease property_value: exactMatch http://identifiers.org/snomedct/128128003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1263847 [Term] id: MONDO:0045001 name: cardiac ventricle disorder def: "A disease or disorder that involves the cardiac ventricle." [MONDO:patterns/location] synonym: "cardiac ventricle disease" EXACT [MONDO:design_pattern] synonym: "cardiac ventricle disease or disorder" EXACT [MONDO:patterns/location] synonym: "disease of cardiac ventricle" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of cardiac ventricle" EXACT [] synonym: "disorder of cardiac ventricle" EXACT [MONDO:design_pattern, MONDO:patterns/location_top] xref: SCTID:415991003 {source="MONDO:equivalentTo"} xref: UMLS:C1562298 {source="MONDO:equivalentTo"} is_a: EFO:0003777 ! heart disease property_value: exactMatch http://identifiers.org/snomedct/415991003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1562298 [Term] id: MONDO:0045002 name: vertebral disorder def: "A disease or disorder that involves the vertebra." [MONDO:patterns/location] synonym: "disease of vertebra" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of vertebra" EXACT [] synonym: "disorder of vertebra" EXACT [MONDO:design_pattern, MONDO:patterns/location_top] synonym: "vertebra disease" EXACT [MONDO:design_pattern] synonym: "vertebra disease or disorder" EXACT [MONDO:patterns/location] xref: SCTID:430886005 {source="MONDO:equivalentTo"} xref: UMLS:C2316319 {source="MONDO:equivalentTo"} is_a: MONDO:0000812 ! vertebral column disorder property_value: exactMatch http://identifiers.org/snomedct/430886005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2316319 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0045003 name: scrotal disorder def: "A disease or disorder that involves the scrotum." [MONDO:patterns/location] synonym: "disease of scrotum" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of scrotum" EXACT [] synonym: "disorder of scrotum" EXACT [MONDO:design_pattern, MONDO:patterns/location_top] synonym: "scrotum disease" EXACT [MONDO:design_pattern] synonym: "scrotum disease or disorder" EXACT [MONDO:patterns/location] xref: SCTID:49701002 {source="MONDO:equivalentTo"} xref: UMLS:C0268919 {source="MONDO:equivalentTo"} is_a: EFO:0009555 ! male reproductive system disease property_value: exactMatch http://identifiers.org/snomedct/49701002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268919 [Term] id: MONDO:0045008 name: cholesterol metabolism disease def: "A disease that has its basis in the disruption of cholesterol metabolic process." [MONDO:design_pattern] comment: Examples: disorder of cholesterol catabolism (disorder), disorder of cholesterol synthesis (disorder) synonym: "cholesterol metabolic process disease" EXACT [MONDO:design_pattern] synonym: "cholesterol metabolism disease" EXACT [MONDO:design_pattern] synonym: "disorder of cholesterol metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "disorder of cholesterol metabolism" EXACT [MONDO:design_pattern] xref: SCTID:123963007 {source="MONDO:equivalentTo"} xref: UMLS:C0342877 {source="MONDO:equivalentTo"} is_a: MONDO:0019256 ! sterol metabolism disorder property_value: exactMatch http://identifiers.org/snomedct/123963007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342877 [Term] id: MONDO:0045010 name: glycoprotein metabolism disease def: "A disease that has its basis in the disruption of glycoprotein metabolic process." [MONDO:design_pattern] comment: Examples: alpha-n-acetylgalactosaminidase deficiency (disorder), carbohydrate-deficient glycoprotein syndrome (disorder), alpha-1-antitrypsin deficiency (disorder), alpha-2-antitrypsin deficiency (disorder), sialidosis (disorder), aspartylglucosaminuria (disorder), fucosidosis (disorder), mannosidosis (disorder), i-cell disease (disorder), glycoprotein storage disorder (disorder) synonym: "disorder of glycoprotein metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "disorder of glycoprotein metabolism" EXACT [MONDO:design_pattern] synonym: "glycoprotein metabolic process disease" EXACT [MONDO:design_pattern] synonym: "glycoprotein metabolism disease" EXACT [MONDO:design_pattern] xref: SCTID:238045003 {source="MONDO:equivalentTo"} xref: UMLS:C0342844 {source="MONDO:equivalentTo"} is_a: MONDO:0019052 ! inborn errors of metabolism property_value: exactMatch http://identifiers.org/snomedct/238045003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342844 [Term] id: MONDO:0045011 name: keratinization disease synonym: "disorder of keratinization" EXACT [MONDO:design_pattern] synonym: "keratinization disease" EXACT [MONDO:design_pattern] xref: SCTID:277905003 {source="MONDO:equivalentTo"} xref: UMLS:C0475811 {source="MONDO:equivalentTo"} is_a: EFO:0010285 ! integumentary system disease is_a: MONDO:0021147 ! disorder of development or morphogenesis property_value: exactMatch http://identifiers.org/snomedct/277905003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0475811 [Term] id: MONDO:0045012 name: steroid metabolism disease def: "A disease that has its basis in the disruption of steroid metabolic process." [MONDO:design_pattern] synonym: "disorder of steroid metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "disorder of steroid metabolism" EXACT [MONDO:design_pattern] synonym: "steroid metabolic process disease" EXACT [MONDO:design_pattern] synonym: "steroid metabolism disease" EXACT [MONDO:design_pattern] xref: SCTID:28710006 {source="MONDO:equivalentTo"} xref: UMLS:C0268283 {source="MONDO:equivalentTo"} is_a: EFO:0000589 {source="MONDO:Redundant"} ! metabolic disease property_value: exactMatch http://identifiers.org/snomedct/28710006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268283 [Term] id: MONDO:0045014 name: tetrahydrobiopterin metabolic process disease def: "A disease that has its basis in the disruption of tetrahydrobiopterin metabolic process." [MONDO:design_pattern] synonym: "disorder of tetrahydrobiopterin metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "disorder of tetrahydrobiopterin metabolism" EXACT [MONDO:design_pattern] synonym: "tetrahydrobiopterin metabolism disease" EXACT [MONDO:design_pattern] xref: SCTID:237913008 {source="MONDO:equivalentTo"} xref: UMLS:C0342676 {source="MONDO:equivalentTo"} is_a: MONDO:0017306 ! disorder of phenylalanine metabolism property_value: exactMatch http://identifiers.org/snomedct/237913008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342676 [Term] id: MONDO:0045015 name: carbohydrate transport disease def: "A disease that has its basis in the disruption of carbohydrate transport." [MONDO:design_pattern] synonym: "carbohydrate transport disease" EXACT [MONDO:design_pattern] synonym: "disorder of carbohydrate transport" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] xref: SCTID:54905006 {source="MONDO:equivalentTo"} xref: UMLS:C0268173 {source="MONDO:equivalentTo"} is_a: MONDO:0037792 ! carbohydrate metabolism disease property_value: exactMatch http://identifiers.org/snomedct/54905006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268173 [Term] id: MONDO:0045016 name: cholesterol catabolic process disease def: "A disease that has its basis in the disruption of cholesterol catabolic process." [MONDO:design_pattern] synonym: "cholesterol catabolism disease" EXACT [MONDO:design_pattern] synonym: "disorder of cholesterol catabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "disorder of cholesterol catabolism" EXACT [MONDO:design_pattern] xref: SCTID:238032002 {source="MONDO:equivalentTo"} xref: UMLS:C0342825 {source="MONDO:equivalentTo"} is_a: MONDO:0045008 {source="MONDO:Redundant"} ! cholesterol metabolism disease property_value: exactMatch http://identifiers.org/snomedct/238032002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342825 [Term] id: MONDO:0045017 name: cholesterol biosynthetic process disease def: "A disease that has its basis in the disruption of cholesterol biosynthetic process." [MONDO:design_pattern] synonym: "cholesterol synthesis disease" EXACT [MONDO:design_pattern] synonym: "disorder of cholesterol biosynthetic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "disorder of cholesterol synthesis" EXACT [MONDO:design_pattern] xref: SCTID:238036004 {source="MONDO:equivalentTo"} xref: UMLS:C0342829 {source="MONDO:equivalentTo"} is_a: MONDO:0019240 ! sterol biosynthesis disorder is_a: MONDO:0045008 {source="MONDO:Redundant"} ! cholesterol metabolism disease property_value: exactMatch http://identifiers.org/snomedct/238036004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342829 [Term] id: MONDO:0045018 name: creatine biosynthetic process disease def: "A disease that has its basis in the disruption of creatine biosynthetic process." [MONDO:design_pattern] synonym: "creatine synthesis disease" EXACT [MONDO:design_pattern] synonym: "disorder of creatine biosynthetic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "disorder of creatine synthesis" EXACT [MONDO:design_pattern] xref: SCTID:297226004 {source="MONDO:equivalentTo"} xref: UMLS:C0574079 {source="MONDO:equivalentTo"} is_a: MONDO:0037871 {source="MONDO:Redundant"} ! amino acid metabolism disease property_value: exactMatch http://identifiers.org/snomedct/297226004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0574079 [Term] id: MONDO:0045020 name: glycine metabolism disease def: "A disease that has its basis in the disruption of glycine metabolic process." [MONDO:design_pattern] synonym: "disorder of glycine metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "disorder of glycine metabolism" EXACT [MONDO:design_pattern] synonym: "glycine metabolic process disease" EXACT [MONDO:design_pattern] synonym: "glycine metabolism disease" EXACT [MONDO:design_pattern] xref: SCTID:83076007 {source="MONDO:equivalentTo"} xref: UMLS:C0268558 {source="MONDO:equivalentTo"} is_a: MONDO:0037871 ! amino acid metabolism disease property_value: exactMatch http://identifiers.org/snomedct/83076007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268558 [Term] id: MONDO:0045022 name: disorder of organic acid metabolism def: "A disease that has its basis in the disruption of organic acid metabolic process." [MONDO:design_pattern] synonym: "disorder of organic acid metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "disorder of organic acid metabolism" EXACT [] synonym: "organic acid metabolic process disease" EXACT [MONDO:design_pattern] synonym: "organic acid metabolism disorder" EXACT [] xref: ICD9:277.89 xref: SCTID:116021002 {source="MONDO:equivalentTo"} is_a: EFO:0000589 {source="MONDO:Redundant"} ! metabolic disease property_value: exactMatch http://identifiers.org/snomedct/116021002 [Term] id: MONDO:0045023 name: acquired adrenogenital syndrome def: "An instance of adrenogenital syndrome that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] synonym: "acquired adrenogenital syndrome" EXACT [MONDO:patterns/acquired] xref: SCTID:190512008 {source="MONDO:equivalentTo"} xref: UMLS:C0237971 {source="MONDO:equivalentTo"} is_a: EFO:1000639 ! acquired metabolic disease is_a: MONDO:0015898 ! adrenogenital syndrome intersection_of: MONDO:0015898 ! adrenogenital syndrome intersection_of: has_characteristic MONDO:0021141 ! acquired property_value: exactMatch http://identifiers.org/snomedct/190512008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0237971 [Term] id: MONDO:0045024 name: cancer or benign tumor def: "Any disorder that features disrupted cell proliferation. Includes hyperplasia, neoplastic syndrome and isolated neoplasm diseases as well as precancerous conditions." [MONDO:cjm] subset: harrisons_view subset: rare_grouping synonym: "cell proliferation disorder" EXACT [https://orcid.org/0000-0002-4142-7153] synonym: "neoplasm" NARROW [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/neoplasm] is_a: EFO:0000408 ! disease union_of: EFO:0000536 ! hyperplasia union_of: MONDO:0021074 ! precancerous condition union_of: MONDO:0023370 ! neoplastic disease or syndrome union_of: MONDO:0045054 ! cancer-related condition [Term] id: MONDO:0045028 name: obsolete radiation or chemically induced disorder def: "OBSOLETE. A disease or disorder that is induced by either chemical or radiation exposure." [MONDO:cjm] property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3414 xsd:anyURI is_obsolete: true [Term] id: MONDO:0045032 name: congenital secretory diarrhea synonym: "congenital secretory diarrhea" EXACT [] xref: ICD9:579.8 xref: SCTID:25898005 {source="MONDO:equivalentTo"} xref: UMLS:C0267661 {source="MONDO:equivalentTo"} is_a: MONDO:0000824 ! congenital diarrhea property_value: exactMatch http://identifiers.org/snomedct/25898005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267661 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0045033 name: opportunistic systemic mycosis def: "A mycosis that arises from infection in an immunologically compromised host and is systemic." [https://www.ncbi.nlm.nih.gov/books/NBK7902] is_a: MONDO:0000256 ! systemic mycosis is_a: MONDO:0002312 ! opportunistic mycosis intersection_of: MONDO:0000256 ! systemic mycosis intersection_of: has_characteristic MONDO:0045035 ! opportunistic infectious [Term] id: MONDO:0045034 name: infectious disease characteristic is_a: EFO:0009813 {source="https://orcid.org/0000-0001-5208-3432"} ! disease characteristic [Term] id: MONDO:0045035 name: opportunistic infectious def: "A characteristic of an infectious disease in which the disease affects an immunologically compromised host." [https://www.ncbi.nlm.nih.gov/books/NBK7902] is_a: MONDO:0045034 ! infectious disease characteristic [Term] id: MONDO:0045036 name: primary infectious def: "A characteristic of an infectious disease in which the disease affects an immunologically normal host." [https://www.ncbi.nlm.nih.gov/books/NBK7902] is_a: MONDO:0045034 ! infectious disease characteristic [Term] id: MONDO:0045040 name: locational disease characteristic is_a: EFO:0009813 {source="https://orcid.org/0000-0001-5208-3432"} ! disease characteristic [Term] id: MONDO:0045042 name: restricted to specific location synonym: "localised" EXACT OMO:0003005 [] synonym: "localized" EXACT [] is_a: MONDO:0045040 ! locational disease characteristic [Term] id: MONDO:0045043 name: disorder of uterine broad ligament def: "A disease or disorder that involves the broad ligament of uterus." [MONDO:patterns/location] synonym: "broad ligament of uterus disease" EXACT [] synonym: "broad ligament of uterus disease or disorder" EXACT [MONDO:patterns/location] synonym: "disease of broad ligament of uterus" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of broad ligament of uterus" EXACT [] synonym: "disorder of broad ligament" EXACT [] synonym: "disorder of broad ligament of uterus" EXACT [MONDO:patterns/location_top] xref: SCTID:237062006 {source="MONDO:equivalentTo"} xref: UMLS:C0404479 {source="MONDO:equivalentTo"} is_a: MONDO:0045044 ! ligament disorder property_value: exactMatch http://identifiers.org/snomedct/237062006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0404479 [Term] id: MONDO:0045044 name: ligament disorder def: "A disease or disorder that involves the ligament." [MONDO:patterns/location] subset: rare_grouping synonym: "disease of ligament" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of ligament" EXACT [] synonym: "disorder of ligament" EXACT [MONDO:patterns/location_top] synonym: "ligament disease or disorder" EXACT [MONDO:patterns/location] xref: SCTID:60492000 {source="MONDO:equivalentTo"} xref: UMLS:C0263976 {source="MONDO:equivalentTo"} is_a: EFO:0009676 ! musculoskeletal system disease property_value: exactMatch http://identifiers.org/snomedct/60492000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263976 [Term] id: MONDO:0045046 name: inherited thyroid metabolism disease def: "An inherited metabolic disease that is has its basis in the disruption of thyroid hormone metabolic process." [MONDO:patterns/inborn_metabolic] synonym: "inborn error of thyroid hormone metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn thyroid hormone metabolic process disorder" EXACT [] synonym: "inherited disorder of thyroid metabolism" EXACT [] synonym: "rare inborn error of thyroid hormone metabolic process" EXACT [MONDO:patterns/inborn_metabolic] xref: ICD9:246.8 xref: SCTID:36985004 {source="MONDO:equivalentTo"} xref: UMLS:C0271824 {source="MONDO:equivalentTo"} is_a: EFO:1000627 ! thyroid disease is_a: MONDO:0019052 ! inborn errors of metabolism property_value: exactMatch http://identifiers.org/snomedct/36985004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271824 [Term] id: MONDO:0045048 name: toxemia of pregnancy def: "A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria." [NCIT:C34943] synonym: "toxemia of pregnancy" EXACT [NCIT:C34943] xref: NCIT:C34943 {source="MONDO:equivalentTo"} is_a: MONDO:0024664 {source="NCIT:C34943"} ! hypertension, pregnancy-induced property_value: exactMatch NCIT:C34943 [Term] id: MONDO:0045050 name: nuclear cataract def: "A cataract (disease) that involves the lens nucleus." [MONDO:design_pattern] synonym: "cataract (disease) of lens nucleus" EXACT [] synonym: "lens nucleus cataract (disease)" EXACT [MONDO:patterns/location] xref: HP:0100018 xref: ICD9:366.04 xref: NCIT:C135176 {source="MONDO:equivalentTo"} xref: SCTID:53889007 {source="MONDO:equivalentTo"} is_a: MONDO:0005129 {source="MONDO:Redundant"} ! cataract property_value: exactMatch http://identifiers.org/snomedct/53889007 property_value: exactMatch NCIT:C135176 [Term] id: MONDO:0045054 name: cancer-related condition def: "A disorder either associated with an increased risk for malignant transformation (e.g., intraepithelial neoplasia, leukoplakia, dysplastic nevus, myelodysplastic syndrome) or that develops as a result of the presence of an existing malignant neoplasm (e.g., paraneoplastic syndrome)." [NCIT:C8278] synonym: "cancer related problem/condition" EXACT [NCIT:C8278] synonym: "cancer-related condition" EXACT [NCIT:C8278] synonym: "cancer-related problem or condition" EXACT [NCIT:C8278] synonym: "oncologic complications" EXACT [NCIT:C8278] synonym: "problem/condition, cancer related" EXACT [NCIT:C8278] synonym: "problem/condition, cancer-related" EXACT [NCIT:C8278] xref: NCIT:C8278 {source="MONDO:equivalentTo"} xref: UMLS:C0280950 {source="MONDO:equivalentTo"} is_a: MONDO:0045024 {source="MONDO:Redundant"} ! cancer or benign tumor property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280950 property_value: exactMatch NCIT:C8278 [Term] id: MONDO:0045056 name: grade II meningioma def: "An atypical meningioma which may recur in approximately 29-40% of the cases. This category includes the atypical meningioma, chordoid meningioma, and clear cell meningioma." [NCIT:C38937] synonym: "grade 2 meningioma" EXACT [NCIT:C38937] synonym: "grade II meningioma" EXACT [NCIT:C38937] synonym: "WHO grade II meningioma" EXACT [NCIT:C38937] xref: NCIT:C38937 {source="MONDO:equivalentTo"} xref: UMLS:C1512259 {source="MONDO:equivalentTo"} is_a: MONDO:0016642 {source="MONDO:Redundant", source="NCIT:C38937"} ! meningioma intersection_of: MONDO:0016642 {source="NCIT:C38937"} ! meningioma intersection_of: has_characteristic MONDO:0024492 {source="NCIT:C38937"} ! tumor grade 2, general grading system relationship: has_characteristic MONDO:0024492 {source="NCIT:C38937"} ! tumor grade 2, general grading system property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1512259 property_value: exactMatch NCIT:C38937 [Term] id: MONDO:0045058 name: ACTH-producing pituitary gland neoplasm def: "An adenoma or carcinoma of the pituitary gland that produces corticotropin." [NCIT:C7909] synonym: "ACTH producing pituitary gland neoplasm" EXACT [NCIT:C7909] synonym: "ACTH-producing pituitary gland neoplasm" EXACT [NCIT:C7909] synonym: "ACTH-producing pituitary neoplasm" EXACT [NCIT:C7909] synonym: "ACTH-producing pituitary tumor" EXACT [NCIT:C7909] synonym: "ACTH-producing pituitary tumour" EXACT OMO:0003005 [] synonym: "ACTH-secreting tumor of pituitary" EXACT [NCIT:C7909] synonym: "ACTH-secreting tumor of the pituitary" EXACT [NCIT:C7909] synonym: "ACTH-secreting tumour of pituitary" EXACT OMO:0003005 [] synonym: "ACTH-secreting tumour of the pituitary" EXACT OMO:0003005 [] synonym: "adrenocorticotropin producing pituitary gland tumor" EXACT [NCIT:C7909] synonym: "adrenocorticotropin producing pituitary gland tumour" EXACT OMO:0003005 [] synonym: "adrenocorticotropin secreting neoplasm of pituitary" EXACT [NCIT:C7909] synonym: "adrenocorticotropin secreting neoplasm of the pituitary" EXACT [NCIT:C7909] synonym: "adrenocorticotropin secreting pituitary gland tumor" EXACT [NCIT:C7909] synonym: "adrenocorticotropin secreting pituitary gland tumour" EXACT OMO:0003005 [] synonym: "adrenocorticotropin secreting tumor of pituitary" EXACT [NCIT:C7909] synonym: "adrenocorticotropin secreting tumor of the pituitary" EXACT [NCIT:C7909] synonym: "adrenocorticotropin secreting tumour of pituitary" EXACT OMO:0003005 [] synonym: "adrenocorticotropin secreting tumour of the pituitary" EXACT OMO:0003005 [] synonym: "corticotropin secreting pituitary gland neoplasm" EXACT [NCIT:C7909] synonym: "pituitary corticotropin secreting neoplasm" EXACT [NCIT:C7909] synonym: "pituitary corticotropin secreting tumor" EXACT [NCIT:C7909] synonym: "pituitary corticotropin secreting tumour" EXACT OMO:0003005 [] xref: NCIT:C7909 {source="MONDO:equivalentObsolete"} xref: UMLS:C0278862 {source="MONDO:equivalentTo"} is_a: MONDO:0017611 ! pituitary tumor property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278862 [Term] id: MONDO:0045063 name: major salivary gland adenoid cystic carcinoma def: "An aggressive carcinoma that arises from the major salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." [NCIT:C5905] synonym: "adenoid cystic carcinoma of major salivary gland" EXACT [NCIT:C5905] synonym: "adenoid cystic carcinoma of the major salivary gland" EXACT [NCIT:C5905] synonym: "major salivary gland adenoid cystic cancer" EXACT [NCIT:C5905] synonym: "major salivary gland adenoid cystic carcinoma" EXACT [NCIT:C5905] xref: NCIT:C5905 {source="MONDO:equivalentTo"} xref: UMLS:C1334548 {source="MONDO:equivalentTo"} is_a: EFO:1000344 {source="MONDO:Redundant", source="NCIT:C5905"} ! Major Salivary Gland Carcinoma is_a: MONDO:0003175 {source="MONDO:Redundant", source="NCIT:C5905"} ! salivary gland adenoid cystic carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334548 property_value: exactMatch NCIT:C5905 [Term] id: MONDO:0045068 name: minor salivary gland adenoid cystic carcinoma def: "An aggressive carcinoma that arises from the minor salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass." [NCIT:C5936] synonym: "adenoid cystic carcinoma of minor salivary gland" EXACT [NCIT:C5936] synonym: "adenoid cystic carcinoma of the minor salivary gland" EXACT [NCIT:C5936] synonym: "minor salivary gland adenoid cystic carcinoma" EXACT [NCIT:C5936] xref: NCIT:C5936 {source="MONDO:equivalentTo"} xref: UMLS:C1334769 {source="MONDO:equivalentTo"} is_a: EFO:1000379 ! Minor Salivary Gland Adenocarcinoma is_a: MONDO:0003175 {source="MONDO:Redundant", source="NCIT:C5936"} ! salivary gland adenoid cystic carcinoma property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334769 property_value: exactMatch NCIT:C5936 [Term] id: MONDO:0045069 name: minor salivary gland carcinoma def: "A carcinoma that arises from the minor salivary glands. Representative examples include adenoid cystic carcinoma, acinic cell carcinoma, polymorphous low grade adenocarcinoma, and mucinous adenocarcinoma." [NCIT:C5957] synonym: "carcinoma of minor salivary gland" EXACT [MONDO:patterns/carcinoma, NCIT:C5957] synonym: "carcinoma of the minor salivary gland" EXACT [NCIT:C5957] synonym: "minor salivary gland cancer" EXACT [NCIT:C5957] synonym: "minor salivary gland carcinoma" EXACT [NCIT:C5957] xref: NCIT:C5957 {source="MONDO:equivalentTo"} xref: UMLS:C1334771 {source="MONDO:equivalentTo", source="NCIT:C5957"} is_a: MONDO:0000521 {source="MONDO:Redundant", source="NCIT:C5957"} ! salivary gland carcinoma is_a: MONDO:0021316 {source="MONDO:Redundant", source="NCIT:C5957"} ! malignant tumor of minor salivary gland property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334771 property_value: exactMatch NCIT:C5957 [Term] id: MONDO:0045070 name: digestive system melanoma def: "A melanoma that arises from any part of the digestive system." [NCIT:C7091] synonym: "digestive system melanoma" EXACT [NCIT:C7091] synonym: "digestive system melanoma (disease)" EXACT [MONDO:patterns/location] synonym: "gastrointestinal melanoma" EXACT [NCIT:C7091] synonym: "melanoma (disease) of digestive system" EXACT [] xref: NCIT:C7091 {source="MONDO:equivalentTo"} xref: UMLS:C1333798 {source="MONDO:equivalentTo", source="NCIT:C7091"} is_a: EFO:1000397 {source="NCIT:C7091"} ! Non-Cutaneous Melanoma is_a: MONDO:0002516 {source="NCIT:C7091"} ! digestive system cancer property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333798 property_value: exactMatch NCIT:C7091 [Term] id: MONDO:0045072 name: ectopic hormone secretion syndrome associated with neoplasia def: "Abnormal secretion of hormones in conjunction with neoplastic growth occurring anywhere in the body." [NCIT:C4065] synonym: "ectopic hormone secretion syndrome associated with neoplasia" EXACT [NCIT:C4065] synonym: "neoplasm associated ectopic hormone secretion syndrome" EXACT [NCIT:C4065] xref: NCIT:C4065 {source="MONDO:equivalentTo"} xref: UMLS:C0851689 {source="MONDO:equivalentTo"} is_a: MONDO:0021058 {source="NCIT:C4065"} ! neoplastic syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0851689 property_value: exactMatch NCIT:C4065 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/324 xsd:anyURI [Term] id: MONDO:0049221 name: myopia 26, X-linked, female-limited synonym: "myopia 26, X-linked, female-limited" EXACT [OMIM:301010] synonym: "MYP26" RELATED ABBREVIATION [OMIM:301010] xref: OMIM:301010 {source="MONDO:equivalentTo"} xref: UMLS:C4538795 {source="OMIM:301010", source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0004892 ! refractive error property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4538795 property_value: exactMatch https://omim.org/entry/301010 [Term] id: MONDO:0054559 name: congenital disorder of glycosylation, type IIq subset: ordo_disease {source="Orphanet:435934"} synonym: "CDG Iiq" RELATED ABBREVIATION [OMIM:617395] synonym: "CDG2Q" RELATED ABBREVIATION [OMIM:617395] synonym: "COG2-CDG" EXACT ABBREVIATION [MONDO:0018568] synonym: "COG2-related congenital disorder of glycosylation" EXACT [Orphanet:435934] xref: DOID:0070269 {source="MONDO:equivalentTo"} xref: OMIM:617395 {source="MONDO:equivalentTo", source="Orphanet:435934"} xref: Orphanet:435934 {source="MONDO:equivalentTo", source="OMIM:617395"} xref: UMLS:C4479353 {source="MONDO:equivalentTo", source="OMIM:617395"} is_a: EFO:0005546 {source="OMIM:617395"} ! congenital disorder of glycosylation type II is_a: MONDO:0017750 {source="Orphanet:435934"} ! defect in conserved oligomeric Golgi complex property_value: exactMatch DOID:0070269 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479353 property_value: exactMatch https://omim.org/entry/617395 property_value: exactMatch Orphanet:435934 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0054565 name: short-rib thoracic dysplasia 17 with or without polydactyly synonym: "short-rib thoracic dysplasia 17 with or without POLYDACTYLY" RELATED [OMIM:617405] synonym: "SRTD17" RELATED ABBREVIATION [OMIM:617405] xref: OMIM:617405 {source="MONDO:equivalentTo"} is_a: MONDO:0018770 {source="OMIM:617405"} ! Jeune syndrome property_value: exactMatch https://omim.org/entry/617405 [Term] id: MONDO:0054591 name: Stankiewicz-Isidor syndrome def: "A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems." [OMIM:617516] synonym: "Stankiewicz-Isidor syndrome" EXACT [OMIM:617516] synonym: "STISS" RELATED ABBREVIATION [OMIM:617516] xref: OMIM:617516 {source="MONDO:equivalentTo"} xref: UMLS:C4479599 {source="OMIM:617516", source="MONDO:equivalentTo"} is_a: EFO:0010642 {source="https://orcid.org/0000-0002-4142-7153"} ! Neurodevelopmental disorder is_a: MONDO:0002254 ! syndromic disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479599 property_value: exactMatch https://omim.org/entry/617516 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0054636 name: Skraban-Deardorff syndrome subset: ordo_disease synonym: "intellectual disability with seizures, abnormal Gait, and distinctive Facial features" RELATED [OMIM:617616] synonym: "SKDEAS" RELATED ABBREVIATION [OMIM:617616] synonym: "Skraban-Deardorff syndrome" EXACT [OMIM:617616] xref: OMIM:617616 {source="Orphanet:513456", source="MONDO:equivalentTo"} xref: Orphanet:513456 {source="MONDO:equivalentTo"} xref: UMLS:C4539927 {source="MONDO:equivalentTo", source="OMIM:617616"} is_a: MONDO:0002254 ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:513456"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4539927 property_value: exactMatch https://omim.org/entry/617616 property_value: exactMatch Orphanet:513456 [Term] id: MONDO:0054691 name: immunodeficiency, common variable, 14 synonym: "CVID14" RELATED ABBREVIATION [OMIM:617765] synonym: "immunodeficiency, COMMON variable, 14" RELATED [OMIM:617765] synonym: "immunodeficiency, common variable, 14" EXACT [] xref: DOID:0081156 {source="MONDO:equivalentTo"} xref: OMIM:617765 {source="MONDO:equivalentTo"} xref: UMLS:C4540380 {source="OMIM:617765", source="MONDO:equivalentTo"} is_a: MONDO:0015517 {source="OMIM:617765"} ! common variable immunodeficiency property_value: exactMatch DOID:0081156 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540380 property_value: exactMatch https://omim.org/entry/617765 [Term] id: MONDO:0054695 name: myopathy, centronuclear, 6, with fiber-type disproportion synonym: "centronuclear myopathy 6 with fiber-type disproportion" EXACT [OMIM:617760, OMIM:genemap2] synonym: "CNM6" RELATED ABBREVIATION [OMIM:617760] synonym: "myopathy, centronuclear, 6, with FIBER-type disproportion" RELATED [OMIM:617760] synonym: "myopathy, centronuclear, 6, with fiber-type disproportion" EXACT [] xref: DOID:0111221 {source="MONDO:equivalentTo"} xref: OMIM:617760 {source="MONDO:equivalentTo"} xref: UMLS:C4540345 {source="MONDO:equivalentTo", source="OMIM:617760"} is_a: MONDO:0018947 {source="OMIM:617760"} ! centronuclear myopathy property_value: exactMatch DOID:0111221 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540345 property_value: exactMatch https://omim.org/entry/617760 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0054699 name: proteasome-associated autoinflammatory syndrome 3 synonym: "PRAAS3" RELATED ABBREVIATION [OMIM:617591] synonym: "proteasome-associated autoinflammatory syndrome 3" EXACT [OMIM:617591] synonym: "proteasome-associated autoinflammatory syndrome 3 and digenic forms" EXACT [OMIM:617591, OMIM:genemap2] synonym: "proteasome-associated autoinflammatory syndrome 3, digenic" RELATED [OMIM:617591] xref: OMIM:617591 {source="MONDO:equivalentTo"} is_a: MONDO:0009726 {source="OMIM:617591"} ! proteosome-associated autoinflammatory syndrome property_value: exactMatch https://omim.org/entry/617591 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0054700 name: proteasome-associated autoinflammatory syndrome 2 synonym: "PRAAS2" RELATED ABBREVIATION [OMIM:618048] synonym: "proteasome-associated autoinflammatory syndrome 2" EXACT [OMIM:618048] xref: OMIM:618048 {source="MONDO:equivalentTo"} xref: UMLS:CN252342 {source="MONDO:equivalentTo"} is_a: MONDO:0009726 {source="OMIM:618048"} ! proteosome-associated autoinflammatory syndrome property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN252342 property_value: exactMatch https://omim.org/entry/618048 [Term] id: MONDO:0054701 name: Kleefstra syndrome 2 synonym: "Kleefstra syndrome 2" EXACT [OMIM:617768] synonym: "KLEFS2" RELATED ABBREVIATION [OMIM:617768] xref: DOID:0080598 {source="MONDO:equivalentTo"} xref: OMIM:617768 {source="MONDO:equivalentTo"} is_a: MONDO:0012455 {source="OMIM:617768"} ! Kleefstra syndrome property_value: exactMatch DOID:0080598 property_value: exactMatch https://omim.org/entry/617768 [Term] id: MONDO:0054726 name: spermatogenic failure 22 synonym: "spermatogenic failure 22" EXACT [OMIM:617706] synonym: "SPGF22" RELATED ABBREVIATION [OMIM:617706] xref: DOID:0070177 {source="MONDO:equivalentTo"} xref: OMIM:617706 {source="MONDO:equivalentTo"} is_a: EFO:0000279 {source="OMIM:617706"} ! azoospermia property_value: exactMatch DOID:0070177 property_value: exactMatch https://omim.org/entry/617706 [Term] id: MONDO:0054727 name: spermatogenic failure 23 synonym: "spermatogenic failure 23" EXACT [OMIM:617707] synonym: "SPGF23" RELATED ABBREVIATION [OMIM:617707] xref: DOID:0070181 {source="MONDO:equivalentTo"} xref: OMIM:617707 {source="MONDO:equivalentTo"} xref: UMLS:C4540185 {source="MONDO:equivalentTo", source="OMIM:617707"} is_a: EFO:0000279 {source="OMIM:617707"} ! azoospermia property_value: exactMatch DOID:0070181 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540185 property_value: exactMatch https://omim.org/entry/617707 [Term] id: MONDO:0054728 name: spermatogenic failure 24 synonym: "spermatogenic failure 24" EXACT [OMIM:617959] synonym: "SPGF24" RELATED ABBREVIATION [OMIM:617959] xref: DOID:0111929 {source="MONDO:equivalentTo"} xref: OMIM:617959 {source="MONDO:equivalentTo"} xref: UMLS:CN244570 {source="MONDO:equivalentTo"} is_a: EFO:0000279 {source="OMIM:617959"} ! azoospermia property_value: exactMatch DOID:0111929 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244570 property_value: exactMatch https://omim.org/entry/617959 [Term] id: MONDO:0054729 name: spermatogenic failure 25 synonym: "spermatogenic failure 25" EXACT [OMIM:617960] synonym: "SPGF25" RELATED ABBREVIATION [OMIM:617960] xref: DOID:0111920 {source="MONDO:equivalentTo"} xref: OMIM:617960 {source="MONDO:equivalentTo"} is_a: EFO:0000279 {source="OMIM:617960"} ! azoospermia property_value: exactMatch DOID:0111920 property_value: exactMatch https://omim.org/entry/617960 [Term] id: MONDO:0054730 name: spermatogenic failure 26 synonym: "spermatogenic failure 26" EXACT [OMIM:617961] synonym: "SPGF26" RELATED ABBREVIATION [OMIM:617961] xref: DOID:0111924 {source="MONDO:equivalentTo"} xref: OMIM:617961 {source="MONDO:equivalentTo"} xref: UMLS:CN244573 {source="MONDO:equivalentTo"} is_a: EFO:0000279 {source="OMIM:617961"} ! azoospermia property_value: exactMatch DOID:0111924 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244573 property_value: exactMatch https://omim.org/entry/617961 [Term] id: MONDO:0054732 name: spermatogenic failure 28 synonym: "spermatogenic failure 28" EXACT [OMIM:618086] synonym: "SPGF28" RELATED ABBREVIATION [OMIM:618086] xref: DOID:0111916 {source="MONDO:equivalentTo"} xref: OMIM:618086 {source="MONDO:equivalentTo"} is_a: EFO:0000279 {source="OMIM:618086"} ! azoospermia property_value: exactMatch DOID:0111916 property_value: exactMatch https://omim.org/entry/618086 [Term] id: MONDO:0054733 name: spermatogenic failure 29 synonym: "spermatogenic failure 29" EXACT [OMIM:618091] synonym: "SPGF29" RELATED ABBREVIATION [OMIM:618091] xref: DOID:0111930 {source="MONDO:equivalentTo"} xref: OMIM:618091 {source="MONDO:equivalentTo"} is_a: EFO:0000279 {source="OMIM:618091"} ! azoospermia property_value: exactMatch DOID:0111930 property_value: exactMatch https://omim.org/entry/618091 [Term] id: MONDO:0054741 name: combined oxidative phosphorylation deficiency 34 synonym: "combined oxidative phosphorylation deficiency 34" EXACT [OMIM:617872] synonym: "COXPD34" RELATED ABBREVIATION [OMIM:617872] xref: DOID:0111497 {source="MONDO:equivalentTo"} xref: OMIM:617872 {source="MONDO:equivalentTo"} is_a: MONDO:0000732 {source="OMIM:617872"} ! combined oxidative phosphorylation deficiency property_value: exactMatch DOID:0111497 property_value: exactMatch https://omim.org/entry/617872 [Term] id: MONDO:0054742 name: combined oxidative phosphorylation deficiency 35 synonym: "combined oxidative phosphorylation deficiency 35" EXACT [OMIM:617873] synonym: "COXPD35" RELATED ABBREVIATION [OMIM:617873] xref: DOID:0111464 {source="MONDO:equivalentTo"} xref: OMIM:617873 {source="MONDO:equivalentTo"} xref: UMLS:CN807948 {source="MONDO:equivalentTo"} is_a: MONDO:0000732 {source="OMIM:617873"} ! combined oxidative phosphorylation deficiency property_value: exactMatch DOID:0111464 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN807948 property_value: exactMatch https://omim.org/entry/617873 [Term] id: MONDO:0054743 name: polycystic liver disease 3 with or without kidney cysts def: "Any polycystic kidney disease in which the cause of the disease is a mutation in the ALG8 gene, that presents with or without kidney cysts." [MONDO:patterns/disease_series_by_gene] synonym: "PCLD3" RELATED ABBREVIATION [OMIM:617874] synonym: "polycystic liver disease 3 with or without kidney cysts" EXACT [OMIM:617874] xref: OMIM:617874 {source="MONDO:equivalentTo"} xref: UMLS:CN818986 {source="MONDO:equivalentTo"} is_a: MONDO:0000447 {source="OMIM:617874"} ! autosomal dominant polycystic liver disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN818986 property_value: exactMatch https://omim.org/entry/617874 [Term] id: MONDO:0054748 name: Fanconi anemia, complementation group S synonym: "Fanconi anemia, complementation GROUP S" RELATED [OMIM:617883] synonym: "Fanconi anemia, complementation group S" EXACT [] synonym: "FANCS" RELATED ABBREVIATION [OMIM:617883] xref: OMIM:617883 {source="MONDO:equivalentTo"} is_a: MONDO:0019391 {source="OMIM:617883"} ! Fanconi anemia property_value: exactMatch https://omim.org/entry/617883 [Term] id: MONDO:0054750 name: amyotrophic lateral sclerosis, susceptibility to, 24 subset: predisposition synonym: "ALS24" RELATED ABBREVIATION [OMIM:617892] synonym: "amyotrophic lateral sclerosis, susceptibility to, 24" EXACT [OMIM:617892] xref: OMIM:617892 {source="MONDO:equivalentTo"} xref: UMLS:CN842244 {source="MONDO:equivalentTo"} is_a: MONDO:0020573 {source="OMIM:617892", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility relationship: predisposes_towards EFO:0001356 {source="OMIM:617892"} ! familial amyotrophic lateral sclerosis property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN842244 property_value: exactMatch https://omim.org/entry/617892 property_value: excluded_subClassOf MONDO:0005144 {source="OMIM:617892"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4882 xsd:anyURI [Term] id: MONDO:0054754 name: encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 subset: predisposition synonym: "encephalopathy, ACUTE, infection-induced (HERPES-specific), susceptibility to, 8" RELATED [OMIM:617900] synonym: "Herpes simplex encephalitis, Susceptibility to, 6" RELATED [OMIM:617900] synonym: "IIAE8" RELATED ABBREVIATION [OMIM:617900] xref: OMIM:617900 {source="MONDO:equivalentTo"} xref: UMLS:CN865669 {source="MONDO:equivalentTo"} is_a: MONDO:0800174 {source="OMIM:617900"} ! encephalitis, acute, infection-induced, susceptibility to relationship: predisposes_towards MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN865669 property_value: exactMatch https://omim.org/entry/617900 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5671 xsd:anyURI [Term] id: MONDO:0054764 name: neurodegeneration with brain iron accumulation 8 synonym: "NBIA8" RELATED ABBREVIATION [OMIM:617917] synonym: "neurodegeneration with brain iron accumulation 8" EXACT [OMIM:617917] xref: OMIM:617917 {source="MONDO:equivalentTo"} xref: UMLS:CN895591 {source="MONDO:equivalentTo"} is_a: MONDO:0018307 {source="OMIM:617917"} ! neurodegeneration with brain iron accumulation property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN895591 property_value: exactMatch https://omim.org/entry/617917 [Term] id: MONDO:0054781 name: combined oxidative phosphorylation deficiency 36 synonym: "combined oxidative phosphorylation deficiency 36" EXACT [OMIM:617950] synonym: "COXPD36" RELATED ABBREVIATION [OMIM:617950] xref: DOID:0111482 {source="MONDO:equivalentTo"} xref: OMIM:617950 {source="MONDO:equivalentTo"} xref: UMLS:CN244569 {source="MONDO:equivalentTo"} is_a: MONDO:0000732 {source="OMIM:617950"} ! combined oxidative phosphorylation deficiency property_value: exactMatch DOID:0111482 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244569 property_value: exactMatch https://omim.org/entry/617950 [Term] id: MONDO:0054782 name: leukodystrophy, hypomyelinating, 15 synonym: "HLD15" RELATED ABBREVIATION [OMIM:617951] synonym: "leukodystrophy, hypomyelinating, 15" EXACT [OMIM:617951] xref: DOID:0070398 {source="MONDO:equivalentTo"} xref: OMIM:617951 {source="MONDO:equivalentTo"} xref: UMLS:CN244566 {source="MONDO:equivalentTo"} is_a: MONDO:0019046 {source="OMIM:617951"} ! leukodystrophy property_value: exactMatch DOID:0070398 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244566 property_value: exactMatch https://omim.org/entry/617951 [Term] id: MONDO:0054785 name: multiple mitochondrial dysfunctions syndrome 6 subset: ordo_disorder synonym: "MMDS6" EXACT ABBREVIATION [OMIM:617954] synonym: "multiple mitochondrial dysfunctions syndrome 6" EXACT [OMIM:617954] synonym: "multiple mitochondrial dysfunctions syndrome type 6" EXACT [Orphanet:569290] synonym: "PMPCB deficiency" EXACT [Orphanet:569290] xref: DOID:0070332 {source="MONDO:equivalentTo"} xref: OMIM:617954 {source="Orphanet:569290", source="MONDO:equivalentTo"} xref: Orphanet:569290 {source="MONDO:equivalentTo"} xref: UMLS:CN244567 {source="MONDO:equivalentTo"} is_a: MONDO:0017338 {source="OMIM:617954"} ! fatal multiple mitochondrial dysfunctions syndrome property_value: exactMatch DOID:0070332 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244567 property_value: exactMatch https://omim.org/entry/617954 property_value: exactMatch Orphanet:569290 [Term] id: MONDO:0054794 name: hydrocephalus, congenital, 3, with brain anomalies synonym: "HYC3" RELATED ABBREVIATION [OMIM:617967] synonym: "hydrocephalus, CONGENITAL, 3, with brain anomalies" RELATED [OMIM:617967] synonym: "hydrocephalus, nonsyndromic, autosomal recessive 3" RELATED [OMIM:617967] synonym: "hydrocephalus, nonsyndromic, autosomal recessive 3, formerly" RELATED [OMIM:617967] xref: OMIM:617967 {source="MONDO:equivalentTo"} is_a: MONDO:0016349 ! congenital hydrocephalus property_value: exactMatch https://omim.org/entry/617967 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0054801 name: erythrocytosis, familial, 6 synonym: "ECYT6" RELATED ABBREVIATION [OMIM:617980] synonym: "erythrocytosis 6" EXACT [OMIM:617980, OMIM:genemap2] synonym: "erythrocytosis, Beta-globin type" RELATED [OMIM:617980] synonym: "erythrocytosis, FAMILIAL, 6" RELATED [OMIM:617980] synonym: "polycythemia, Beta-globin type" RELATED [OMIM:617980] xref: DOID:0111632 {source="MONDO:equivalentTo"} xref: OMIM:617980 {source="MONDO:equivalentTo"} xref: UMLS:CN244941 {source="MONDO:equivalentTo"} is_a: MONDO:0001115 ! familial polycythemia property_value: exactMatch DOID:0111632 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244941 property_value: exactMatch https://omim.org/entry/617980 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0054813 name: Ehlers-Danlos syndrome, classic-like, 2 subset: ordo_disease synonym: "EDSCLL2" EXACT ABBREVIATION [OMIM:618000] synonym: "Ehlers-Danlos syndrome, classic-like, 2" EXACT [OMIM:618000] xref: DOID:0080732 {source="MONDO:equivalentTo"} xref: OMIM:618000 {source="MONDO:equivalentTo", source="Orphanet:536532"} xref: Orphanet:536532 {source="MONDO:equivalentTo"} xref: UMLS:CN248508 {source="MONDO:equivalentTo"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0020066 {source="OMIM:618000", source="Orphanet:536532"} ! Ehlers-Danlos syndrome property_value: exactMatch DOID:0080732 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN248508 property_value: exactMatch https://omim.org/entry/618000 property_value: exactMatch Orphanet:536532 property_value: excluded_subClassOf MONDO:0019704 {source="Orphanet:536532"} [Term] id: MONDO:0054817 name: leukodystrophy, hypomyelinating, 17 synonym: "HLD17" RELATED ABBREVIATION [OMIM:618006] synonym: "leukodystrophy, hypomyelinating, 17" EXACT [OMIM:618006] xref: DOID:0070404 {source="MONDO:equivalentTo"} xref: OMIM:618006 {source="MONDO:equivalentTo"} xref: UMLS:CN248514 {source="MONDO:equivalentTo"} is_a: MONDO:0019046 {source="OMIM:618006"} ! leukodystrophy property_value: exactMatch DOID:0070404 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN248514 property_value: exactMatch https://omim.org/entry/618006 [Term] id: MONDO:0054833 name: charcot-marie-tooth disease, axonal, type 2DD subset: ordo_disease synonym: "Charcot-Marie-tooth disease, axonal, type 2DD" RELATED [OMIM:618036] synonym: "Charcot-Marie-Tooth neuropathy, type 2Dd" RELATED [OMIM:618036] synonym: "CMT2DD" RELATED ABBREVIATION [OMIM:618036] xref: DOID:0111558 {source="MONDO:equivalentTo"} xref: OMIM:618036 {source="Orphanet:521414", source="MONDO:equivalentTo"} xref: Orphanet:521414 {source="MONDO:equivalentTo"} xref: UMLS:CN248781 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0018993 {source="Orphanet:521414"} ! Charcot-Marie-Tooth disease type 2 property_value: exactMatch DOID:0111558 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN248781 property_value: exactMatch https://omim.org/entry/618036 property_value: exactMatch Orphanet:521414 [Term] id: MONDO:0054835 name: classic dopamine transporter deficiency syndrome def: "Classic Dopamine Transporter Deficiency Syndrome describes a subset of SLC6A3-related DTDS cases which present in early infancy. This disorder is usually first identified by neonatal distress and irritability, feeding difficulties, and motor developmental delay." [PMID:28749637] synonym: "classic DTDS" EXACT ABBREVIATION [GARD:0010484] synonym: "dopamine transporter deficiency syndrome" RELATED [OMIM:613135] synonym: "Parkinsonism-dystonia, infantile, 1" EXACT [OMIM:613135] synonym: "PKDYS" BROAD ABBREVIATION [OMIM:613135] synonym: "PKDYS1" EXACT ABBREVIATION [OMIM:613135] xref: NCIT:C129866 {source="MONDO:equivalentTo"} xref: OMIM:613135 {source="MONDO:equivalentTo"} xref: SCTID:722763000 {source="MONDO:equivalentTo"} xref: UMLS:C2751067 {source="OMIM:613135", source="MONDO:equivalentTo"} is_a: MONDO:0013150 {source="OMIM:613135"} ! parkinsonism-dystonia, infantile is_a: MONDO:0700117 {source="PMID:28749637"} ! SLC6A3-related dopamine transporter deficiency syndrome property_value: exactMatch http://identifiers.org/snomedct/722763000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751067 property_value: exactMatch https://omim.org/entry/613135 property_value: exactMatch NCIT:C129866 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5523 xsd:anyURI [Term] id: MONDO:0054837 name: intellectual disability, autosomal dominant 57 synonym: "intellectual developmental disorder, autosomal dominant 57" EXACT [OMIM:618050, OMIM:genemap2] synonym: "intellectual disability, autosomal dominant 57" EXACT [OMIM:618050] synonym: "mental retardation, autosomal dominant 57" RELATED DEPRECATED [OMIM:618050] synonym: "MRD57" RELATED DEPRECATED [OMIM:618050] xref: OMIM:618050 {source="MONDO:equivalentTo"} xref: UMLS:CN252334 {source="MONDO:equivalentTo"} is_a: MONDO:0015802 {source="OMIM:618050"} ! autosomal dominant non-syndromic intellectual disability property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN252334 property_value: exactMatch https://omim.org/entry/618050 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0054842 name: polycystic kidney disease 6 with or without polycystic liver disease def: "Any polycystic kidney disease in which the cause of the disease is a mutation in the DNAJB11 gene." [MONDO:patterns/disease_series_by_gene] synonym: "DNAJB11 polycystic kidney disease" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "PKD6" RELATED ABBREVIATION [OMIM:618061] synonym: "polycystic kidney disease 6 with or without polycystic liver disease" EXACT [OMIM:618061] synonym: "polycystic kidney disease caused by mutation in DNAJB11" EXACT [] xref: OMIM:618061 {source="MONDO:equivalentTo"} xref: UMLS:CN252647 {source="MONDO:equivalentTo"} is_a: EFO:1001496 {source="OMIM:618061"} ! Autosomal dominant polycystic kidney disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN252647 property_value: exactMatch https://omim.org/entry/618061 [Term] id: MONDO:0054843 name: ciliary dyskinesia, primary, 38 synonym: "CILD38" RELATED ABBREVIATION [OMIM:618063] synonym: "ciliary dyskinesia, PRIMARY, 38" RELATED [OMIM:618063] synonym: "ciliary dyskinesia, Primary, 38, with or without situs inversus" RELATED [OMIM:618063] xref: DOID:0111852 {source="MONDO:equivalentTo"} xref: OMIM:618063 {source="MONDO:equivalentTo"} xref: UMLS:CN252651 {source="MONDO:equivalentTo"} is_a: MONDO:0016575 {source="OMIM:618063"} ! primary ciliary dyskinesia property_value: exactMatch DOID:0111852 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN252651 property_value: exactMatch https://omim.org/entry/618063 [Term] id: MONDO:0054845 name: developmental and epileptic encephalopathy, 66 synonym: "DEE66" EXACT ABBREVIATION [OMIM:618067] synonym: "developmental and epileptic encephalopathy 66" EXACT [OMIM:618067, OMIM:genemap2] synonym: "EIEE66" EXACT ABBREVIATION [OMIM:618067] synonym: "epileptic encephalopathy, early infantile, 66" EXACT [OMIM:618067] xref: DOID:0080446 {source="MONDO:equivalentTo"} xref: OMIM:618067 {source="MONDO:equivalentTo"} xref: UMLS:CN252658 {source="MONDO:equivalentTo"} is_a: MONDO:0100062 {source="OMIM:618067"} ! developmental and epileptic encephalopathy property_value: exactMatch DOID:0080446 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN252658 property_value: exactMatch https://omim.org/entry/618067 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0054852 name: peeling skin syndrome 6 synonym: "peeling skin syndrome 6" EXACT [OMIM:618084] synonym: "PSS6" RELATED ABBREVIATION [OMIM:618084] xref: OMIM:618084 {source="MONDO:equivalentTo"} is_a: MONDO:0019347 {source="OMIM:618084"} ! peeling skin syndrome property_value: exactMatch https://omim.org/entry/618084 [Term] id: MONDO:0054860 name: hearing loss, autosomal recessive 110 synonym: "deafness, autosomal recessive 110" NARROW [OMIM:618094, OMIM:genemap2] synonym: "DFNB110" NARROW ABBREVIATION [OMIM:618094] xref: DOID:0111644 {source="MONDO:equivalentTo"} xref: OMIM:618094 {source="MONDO:equivalentTo"} is_a: MONDO:0019588 {source="OMIM:618094"} ! hearing loss, autosomal recessive property_value: exactMatch DOID:0111644 property_value: exactMatch https://omim.org/entry/618094 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/551 xsd:anyURI [Term] id: MONDO:0054865 name: encephalopathy due to mitochondrial and peroxisomal fission defect subset: ordo_disease synonym: "encephalopathy due to defective mitochondrial and peroxisomal fission" EXACT [OMIMPS:614388] synonym: "encephalopathy due to mitochondrial and peroxisomal fission defect" EXACT [https://www.clinicalgenome.org/affiliation/40049/] xref: OMIMPS:614388 {source="MONDO:equivalentTo"} xref: Orphanet:527276 {source="MONDO:equivalentTo"} is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0100276 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of defective peroxisomal and mitochondrial fission property_value: exactMatch https://omim.org/phenotypicSeries/PS614388 property_value: exactMatch Orphanet:527276 [Term] id: MONDO:0056797 name: neurodevelopmental disorder with midbrain and hindbrain malformations synonym: "NEDMHM" EXACT ABBREVIATION [DOID:0080312, OMIM:617523] synonym: "neurodevelopmental disorder with midbrain and hindbrain malformations" EXACT [OMIM:617523] xref: DOID:0080312 {source="MONDO:equivalentTo"} xref: OMIM:617523 {source="DOID:0080312", source="MONDO:equivalentTo"} xref: UMLS:C4479613 {source="OMIM:617523", source="MONDO:equivalentTo"} is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch DOID:0080312 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479613 property_value: exactMatch https://omim.org/entry/617523 property_value: excluded_subClassOf MONDO:0000508 {source="DOID:0080312"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0056799 name: synovium disorder def: "A disease or disorder that involves the layer of synovial tissue." [MONDO:patterns/location] synonym: "disease of layer of synovial tissue" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of layer of synovial tissue" EXACT [] synonym: "disorder of layer of synovial tissue" EXACT [MONDO:patterns/location_top] synonym: "disorder of synovium" EXACT [] synonym: "layer of synovial tissue disease" EXACT [] synonym: "layer of synovial tissue disease or disorder" EXACT [MONDO:patterns/location] xref: ICD9:727.89 xref: ICD9:727.9 xref: SCTID:3519007 {source="MONDO:equivalentTo"} xref: UMLS:C0263945 {source="MONDO:equivalentTo"} is_a: EFO:0009676 ! musculoskeletal system disease property_value: exactMatch http://identifiers.org/snomedct/3519007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263945 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0056802 name: synovial bursa disorder def: "A disease or disorder that involves the synovial bursa." [MONDO:patterns/location] synonym: "disease of synovial bursa" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of synovial bursa" EXACT [] synonym: "disorder of bursa" EXACT [] synonym: "disorder of synovial bursa" EXACT [MONDO:patterns/location_top] synonym: "synovial bursa disease or disorder" EXACT [MONDO:patterns/location] xref: SCTID:10597006 {source="MONDO:equivalentTo"} xref: UMLS:C0263946 {source="MONDO:equivalentTo"} is_a: MONDO:0056799 ! synovium disorder property_value: exactMatch http://identifiers.org/snomedct/10597006 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263946 [Term] id: MONDO:0056803 name: sulfur metabolism disease def: "A disease that has its basis in the disruption of sulfur compound metabolic process." [MONDO:patterns/disrupts_process] synonym: "disorder of sulfur compound metabolic process" EXACT [MONDO:patterns/basis_in_disruption_of_process] synonym: "disorder of sulfur metabolic process" EXACT [] synonym: "disorder of sulfur metabolism" EXACT [] synonym: "disorder of sulphur compound metabolic process" EXACT OMO:0003005 [] synonym: "disorder of sulphur metabolic process" EXACT OMO:0003005 [] synonym: "disorder of sulphur metabolism" EXACT OMO:0003005 [] synonym: "sulfur compound metabolic process disease" EXACT [] synonym: "sulphur compound metabolic process disease" EXACT OMO:0003005 [] xref: SCTID:123809005 {source="MONDO:equivalentTo"} xref: UMLS:C1263724 {source="MONDO:equivalentTo"} is_a: EFO:0009556 ! mineral metabolism disease property_value: exactMatch http://identifiers.org/snomedct/123809005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1263724 [Term] id: MONDO:0056804 name: benign neoplasm of peripheral nervous system xref: DOID:0080320 {source="MONDO:equivalentTo"} is_a: EFO:0002431 ! tumour of cranial and spinal nerves is_a: MONDO:0000628 {source="DOID:0080320"} ! central nervous system organ benign neoplasm property_value: exactMatch DOID:0080320 [Term] id: MONDO:0056806 name: non-small cell squamous lung carcinoma def: "A squamous cell carcinoma that arises from the lung. It is characterized by the presence of large malignant cells. It includes the clear cell and papillary variants of squamous cell carcinoma." [NCIT:C133254] synonym: "non-small cell squamous lung cancer" EXACT [NCIT:C133254] synonym: "non-small cell squamous lung carcinoma" EXACT [NCIT:C133254] synonym: "squamous non-small cell lung carcinoma" EXACT [NCIT:C133254] xref: DOID:0080521 {source="MONDO:equivalentTo"} xref: NCIT:C133254 {source="MONDO:equivalentTo"} xref: SCTID:723301009 {source="MONDO:equivalentTo"} is_a: EFO:0000708 {source="NCIT:C133254"} ! squamous cell lung carcinoma is_a: EFO:0003060 {source="NCIT:C133254"} ! non-small cell lung carcinoma intersection_of: EFO:0000708 {source="NCIT:C133254"} ! squamous cell lung carcinoma intersection_of: EFO:0003060 {source="NCIT:C133254"} ! non-small cell lung carcinoma property_value: exactMatch DOID:0080521 property_value: exactMatch http://identifiers.org/snomedct/723301009 property_value: exactMatch NCIT:C133254 [Term] id: MONDO:0056815 name: liver adenosquamous carcinoma def: "A rare carcinoma that arises from the intrahepatic bile ducts and is composed of malignant glandular cells and malignant squamous cells." [NCIT:C118630] synonym: "liver adenosquamous cancer" EXACT [NCIT:C118630] synonym: "liver adenosquamous carcinoma" EXACT [NCIT:C118630] xref: NCIT:C118630 {source="MONDO:equivalentTo"} xref: UMLS:C3898586 {source="NCIT:C118630", source="MONDO:equivalentTo"} is_a: EFO:1000073 {source="NCIT:C118630"} ! Adenosquamous Carcinoma is_a: MONDO:0018534 ! squamous cell carcinoma of liver and intrahepatic biliary tract property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3898586 property_value: exactMatch NCIT:C118630 [Term] id: MONDO:0056819 name: nasal cavity and paranasal sinus carcinoma def: "A carcinoma arising from the nasal cavity or paranasal sinuses." [NCIT:C54293] comment: Editor note: TODO add uberon term synonym: "nasal cavity and paranasal sinus cancer" EXACT [NCIT:C54293] synonym: "nasal cavity and paranasal sinus carcinoma" EXACT [NCIT:C54293] synonym: "paranasal sinus and nasal cavity cancer" EXACT [NCIT:C54293] synonym: "sinonasal carcinoma" EXACT [NCIT:C54293] xref: NCIT:C54293 {source="MONDO:equivalentTo"} xref: UMLS:C1710095 {source="MONDO:equivalentTo"} is_a: MONDO:0002038 {source="NCIT:C54293"} ! head and neck carcinoma is_a: MONDO:0056820 {source="NCIT:C54293"} ! nasal cavity and paranasal sinus neoplasm property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1710095 property_value: exactMatch NCIT:C54293 [Term] id: MONDO:0056820 name: nasal cavity and paranasal sinus neoplasm def: "A benign or malignant neoplasm that affects the nasal cavity or paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." [NCIT:C7336] comment: Editor note: TODO add uberon term synonym: "nasal cavity and paranasal sinus neoplasm" EXACT [NCIT:C7336] xref: NCIT:C7336 {source="MONDO:equivalentTo"} xref: UMLS:C1334925 {source="MONDO:equivalentTo"} is_a: EFO:0005950 {source="NCIT:C7336"} ! head and neck neoplasia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334925 property_value: exactMatch NCIT:C7336 [Term] id: MONDO:0060457 name: autoinflammation with arthritis and dyskeratosis synonym: "AIADK" RELATED ABBREVIATION [OMIM:617388] synonym: "AUTOINFLAMMATION with arthritis and dyskeratosis" RELATED [OMIM:617388] xref: OMIM:617388 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch https://omim.org/entry/617388 [Term] id: MONDO:0060490 name: neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies def: "A rare genetic syndromic intellectual disability characterized by infantile onset of global developmental delay and profound intellectual disability in association with a heterogeneous spectrum of manifestations, such as features of lower motor neuron disease, hypotonia, spasticity, contractures, seizures, respiratory insufficiency, and optic atrophy, among others. Dysmorphic craniofacial features include microcephaly, tall forehead, bitemporal narrowing, flat nasal bridge, low-set ears, and high-arched palate. Brain imaging may show cerebral and cerebellar atrophy, delayed myelination, and thin corpus callosum." [Orphanet:544469] subset: ordo_disorder synonym: "neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies" EXACT [OMIM:617481] synonym: "NMIHBA" RELATED ABBREVIATION [OMIM:617481] xref: OMIM:617481 {source="Orphanet:544469", source="MONDO:equivalentTo"} xref: Orphanet:544469 {source="MONDO:equivalentTo"} xref: UMLS:C4479566 {source="MONDO:equivalentTo", source="OMIM:617481"} is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479566 property_value: exactMatch https://omim.org/entry/617481 property_value: exactMatch Orphanet:544469 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0060491 name: neurodevelopmental disorder with involuntary movements comment: Editor note: todo - check orphanet xref synonym: "NEDIM" RELATED ABBREVIATION [OMIM:617493] synonym: "neurodevelopmental disorder with involuntary movements" EXACT [OMIM:617493] xref: DOID:0112276 {source="MONDO:equivalentTo"} xref: OMIM:617493 {source="MONDO:equivalentTo"} is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch DOID:0112276 property_value: exactMatch https://omim.org/entry/617493 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0060502 name: neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies subset: ordo_malformation_syndrome synonym: "NDMSBA" RELATED ABBREVIATION [OMIM:617527] synonym: "neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies" EXACT [OMIM:617527] xref: OMIM:617527 {source="MONDO:equivalentTo", source="Orphanet:521426"} xref: Orphanet:521426 {source="MONDO:equivalentTo"} xref: UMLS:C4479631 {source="OMIM:617527", source="MONDO:equivalentTo"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:521426"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479631 property_value: exactMatch https://omim.org/entry/617527 property_value: exactMatch Orphanet:521426 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0060507 name: retinal dystrophy with or without macular staphyloma synonym: "RDMS" RELATED ABBREVIATION [OMIM:617547] synonym: "retinal dystrophy with macular staphyloma" EXACT [OMIM:617547, OMIM:genemap2] synonym: "retinal dystrophy with or without macular staphyloma" EXACT [OMIM:617547] xref: OMIM:617547 {source="MONDO:equivalentTo"} xref: UMLS:C4479651 {source="OMIM:617547", source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479651 property_value: exactMatch https://omim.org/entry/617547 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0060510 name: Cohen-Gibson syndrome synonym: "COGIS" RELATED ABBREVIATION [OMIM:617561] synonym: "Cohen-Gibson syndrome" EXACT [OMIM:617561] xref: OMIM:617561 {source="MONDO:equivalentTo"} xref: UMLS:C4479654 {source="MONDO:equivalentTo", source="OMIM:617561"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479654 property_value: exactMatch https://omim.org/entry/617561 [Term] id: MONDO:0060527 name: maleylacetoacetate isomerase deficiency synonym: "benign hypersuccinylacetonemia" RELATED [OMIM:617596] synonym: "hypersuccinylacetonemia, mild" RELATED [OMIM:617596] synonym: "MAAI deficiency" RELATED [OMIM:617596] synonym: "MAAID" RELATED ABBREVIATION [OMIM:617596] synonym: "maleylacetoacetate isomerase deficiency" EXACT [OMIM:617596, OMIM:genemap2] xref: OMIM:617596 {source="MONDO:equivalentTo"} xref: UMLS:C1291607 {source="MONDO:equivalentTo", source="OMIM:617596"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1291607 property_value: exactMatch https://omim.org/entry/617596 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0060532 name: congenital heart defects and skeletal malformations syndrome synonym: "CHDSKM" RELATED ABBREVIATION [OMIM:617602] synonym: "congenital heart defects and skeletal malformations syndrome" EXACT [OMIM:617602] synonym: "marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome" EXACT [Orphanet:643503] xref: OMIM:617602 {source="MONDO:equivalentTo"} xref: Orphanet:643503 {source="MONDO:equivalentTo"} xref: UMLS:C4539857 {source="OMIM:617602", source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4539857 property_value: exactMatch https://omim.org/entry/617602 property_value: exactMatch Orphanet:643503 [Term] id: MONDO:0060533 name: microcephaly, short stature, and limb abnormalities synonym: "microcephaly, short stature, and limb abnormalities" EXACT [OMIM:617604] synonym: "MISSLA" RELATED ABBREVIATION [OMIM:617604] xref: OMIM:617604 {source="MONDO:equivalentTo"} xref: Orphanet:572773 {source="MONDO:equivalentTo"} xref: UMLS:C4539873 {source="OMIM:617604", source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4539873 property_value: exactMatch https://omim.org/entry/617604 property_value: exactMatch Orphanet:572773 [Term] id: MONDO:0060549 name: congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay synonym: "CAKUTHED" RELATED ABBREVIATION [OMIM:617641] synonym: "congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay" EXACT [OMIM:617641] xref: DOID:0112359 {source="MONDO:equivalentTo"} xref: OMIM:617641 {source="MONDO:equivalentTo"} xref: UMLS:C4539968 {source="MONDO:equivalentTo", source="OMIM:617641"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch DOID:0112359 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4539968 property_value: exactMatch https://omim.org/entry/617641 [Term] id: MONDO:0060551 name: cerebellar atrophy, developmental delay, and seizures synonym: "CADEDS" RELATED ABBREVIATION [OMIM:617643] synonym: "cerebellar atrophy, developmental delay, and seizures" EXACT [OMIM:617643] xref: OMIM:617643 {source="MONDO:equivalentTo"} xref: UMLS:C4539985 {source="OMIM:617643", source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4539985 property_value: exactMatch https://omim.org/entry/617643 [Term] id: MONDO:0060554 name: vertebral, cardiac, renal, and limb defects syndrome 1 synonym: "3-hydroxyanthranilic acidemia" RELATED [OMIM:617660] synonym: "congenital NAD deficiency Disorder 1" RELATED [OMIM:617660] synonym: "VCRL1" RELATED ABBREVIATION [OMIM:617660] synonym: "vertebral, cardiac, renal, and limb defects syndrome 1" EXACT [OMIM:617660] xref: OMIM:617660 {source="MONDO:equivalentTo"} xref: UMLS:C4540004 {source="MONDO:equivalentTo", source="OMIM:617660"} is_a: MONDO:0020831 ! congenital vertebral-cardiac-renal anomalies syndrome is_a: MONDO:0800075 {source="PMID:31633310"} ! dysostosis with predominant vertebral with and without costal involvement property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540004 property_value: exactMatch https://omim.org/entry/617660 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0060555 name: vertebral, cardiac, renal, and limb defects syndrome 2 synonym: "congenital NAD deficiency disorder 2" RELATED [OMIM:617661] synonym: "kynureninase deficiency, complete" RELATED [OMIM:617661] synonym: "VCRL2" RELATED ABBREVIATION [OMIM:617661] synonym: "vertebral, cardiac, renal, and limb defects syndrome 2" EXACT [OMIM:617661] xref: OMIM:617661 {source="MONDO:equivalentTo"} xref: UMLS:C4540014 {source="MONDO:equivalentTo", source="OMIM:617661"} is_a: MONDO:0020831 ! congenital vertebral-cardiac-renal anomalies syndrome is_a: MONDO:0800075 {source="PMID:31633310"} ! dysostosis with predominant vertebral with and without costal involvement property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540014 property_value: exactMatch https://omim.org/entry/617661 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0060556 name: joint laxity, short stature, and myopia subset: ordo_malformation_syndrome synonym: "JLSM" RELATED ABBREVIATION [OMIM:617662] synonym: "joint laxity, short stature, and myopia" EXACT [OMIM:617662] xref: OMIM:617662 {source="MONDO:equivalentTo", source="Orphanet:527450"} xref: Orphanet:527450 {source="MONDO:equivalentTo"} xref: UMLS:C4540020 {source="MONDO:equivalentTo", source="OMIM:617662"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0019755 {source="MONDO:0015332-obsoleted"} ! developmental defect during embryogenesis is_a: MONDO:0800086 {source="PMID:31633310"} ! primary bone dysplasia with multiple joint dislocations property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540020 property_value: exactMatch https://omim.org/entry/617662 property_value: exactMatch Orphanet:527450 property_value: excluded_subClassOf MONDO:0019700 {source="Orphanet:527450"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0060577 name: neurodevelopmental disorder with microcephaly, ataxia, and seizures synonym: "NEDMAS" RELATED ABBREVIATION [OMIM:617709] synonym: "neurodevelopmental disorder with microcephaly, ataxia, and seizures" EXACT [OMIM:617709] xref: OMIM:617709 {source="MONDO:equivalentTo"} xref: UMLS:C4540188 {source="MONDO:equivalentTo", source="OMIM:617709"} is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540188 property_value: exactMatch https://omim.org/entry/617709 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0060578 name: neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures synonym: "NEMMLAS" RELATED ABBREVIATION [OMIM:617710] synonym: "neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures" EXACT [OMIM:617710] xref: OMIM:617710 {source="MONDO:equivalentTo"} xref: Orphanet:572798 {source="MONDO:equivalentTo"} xref: UMLS:C4540192 {source="OMIM:617710", source="MONDO:equivalentTo"} is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540192 property_value: exactMatch https://omim.org/entry/617710 property_value: exactMatch Orphanet:572798 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0060582 name: auditory neuropathy-optic atrophy syndrome subset: ordo_disease synonym: "ANOA" RELATED ABBREVIATION [OMIM:617717] synonym: "auditory neuropathy and optic atrophy" RELATED [OMIM:617717] xref: OMIM:617717 {source="Orphanet:542585", source="MONDO:equivalentTo"} xref: Orphanet:542585 {source="MONDO:equivalentTo"} xref: UMLS:C4521678 {source="MONDO:equivalentTo", source="OMIM:617717"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0044970 ! mitochondrial disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4521678 property_value: exactMatch https://omim.org/entry/617717 property_value: exactMatch Orphanet:542585 [Term] id: MONDO:0060583 name: platelet abnormalities with eosinophilia and immune-mediated inflammatory disease synonym: "immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia" EXACT [OMIM:617718, OMIM:genemap2] synonym: "platelet abnormalities with eosinophilia and immune-mediated inflammatory disease" EXACT [OMIM:617718] synonym: "PLTEID" RELATED ABBREVIATION [OMIM:617718] xref: DOID:0112004 {source="MONDO:equivalentTo"} xref: OMIM:617718 {source="MONDO:equivalentTo"} xref: UMLS:C4540232 {source="MONDO:equivalentTo", source="OMIM:617718"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch DOID:0112004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540232 property_value: exactMatch https://omim.org/entry/617718 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0060589 name: facial palsy, congenital, with ptosis and velopharyngeal dysfunction synonym: "facial palsy, congenital, with ptosis and velopharyngeal dysfunction" EXACT [OMIM:617732] synonym: "facial palsy, congenitla, with ptosis and velopharyngeal dysfunction" EXACT [OMIM:617732, OMIM:genemap2] synonym: "FPVEPD" RELATED ABBREVIATION [OMIM:617732] xref: OMIM:617732 {source="MONDO:equivalentTo"} xref: UMLS:C4540277 {source="OMIM:617732", source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540277 property_value: exactMatch https://omim.org/entry/617732 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0060591 name: immunodeficiency, developmental delay, and hypohomocysteinemia synonym: "IMDDHH" RELATED ABBREVIATION [OMIM:617744] synonym: "immunodeficiency, developmental delay, and hypohomocysteinemia" EXACT [OMIM:617744] xref: OMIM:617744 {source="MONDO:equivalentTo"} xref: UMLS:C4540293 {source="OMIM:617744", source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540293 property_value: exactMatch https://omim.org/entry/617744 [Term] id: MONDO:0060593 name: obsolete actn3 deficiency comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none synonym: "ACTN3 deficiency" EXACT [OMIM:617749] synonym: "alpha-actinin-3 deficiency" EXACT [OMIM:617749, OMIM:genemap2] synonym: "sprinting performance" EXACT [OMIM:617749, OMIM:genemap2] xref: OMIM:617749 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch https://omim.org/entry/617749 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3637 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI is_obsolete: true [Term] id: MONDO:0060596 name: neurodevelopmental disorder with dysmorphic facies and distal limb anomalies comment: Editor note: Check ORDO class, may refer to more generic class subset: ordo_disease synonym: "NEDDFL" RELATED ABBREVIATION [OMIM:617755] synonym: "neurodevelopmental disorder with dysmorphic facies and distal limb anomalies" EXACT [OMIM:617755] xref: OMIM:617755 {source="Orphanet:528084", source="MONDO:equivalentTo"} xref: Orphanet:528084 {source="MONDO:equivalentTo"} xref: UMLS:C4540327 {source="OMIM:617755", source="MONDO:equivalentTo"} is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540327 property_value: exactMatch https://omim.org/entry/617755 property_value: exactMatch Orphanet:528084 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0060611 name: combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia synonym: "CIMAH" RELATED ABBREVIATION [OMIM:617780] synonym: "combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia" EXACT [OMIM:617780] synonym: "methylenetetrahydrofolate dehydrogenase 1 deficiency" RELATED [OMIM:617780] xref: OMIM:617780 {source="MONDO:equivalentTo"} xref: UMLS:C4540434 {source="MONDO:equivalentTo", source="OMIM:617780"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540434 property_value: exactMatch https://omim.org/entry/617780 [Term] id: MONDO:0060622 name: neurodevelopmental disorder with severe motor impairment and absent language synonym: "NEDMIAL" RELATED ABBREVIATION [OMIM:617804] synonym: "neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome" EXACT [Orphanet:647788] synonym: "neurodevelopmental disorder with severe motor impairment and absent language" EXACT [OMIM:617804] xref: OMIM:617804 {source="MONDO:equivalentTo"} xref: Orphanet:647788 {source="MONDO:equivalentTo"} xref: UMLS:C4540496 {source="MONDO:equivalentTo", source="OMIM:617804"} is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540496 property_value: exactMatch https://omim.org/entry/617804 property_value: exactMatch Orphanet:647788 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0060624 name: neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter synonym: "NDAGSCW" RELATED ABBREVIATION [OMIM:617807] synonym: "neurodevelopmental disorder with ataxic GAIT, absent speech, and decreased cortical WHITE matter" RELATED [OMIM:617807] xref: OMIM:617807 {source="MONDO:equivalentTo"} xref: UMLS:C4540498 {source="MONDO:equivalentTo", source="OMIM:617807"} is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540498 property_value: exactMatch https://omim.org/entry/617807 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0060627 name: glycosylphosphatidylinositol biosynthesis defect 15 def: "A rare, genetic, syndromic intellectual disability characterized by global developmental delay, early-onset seizures, cerebellar atrophy, osteopenia, nystagmus and dysmorphic facial features, including bitemporal narrowing, prominent forehead, anteverted nares. Dysarthria, dysmetria, ataxic gait, spasticity and dysmorphic features have also been associated." [Orphanet:529665] subset: ordo_malformation_syndrome synonym: "developmental delay, epilepsy, cerebellar atrophy, and osteopenia" RELATED [OMIM:617810] synonym: "glycosylphosphatidylinositol biosynthesis defect 15" EXACT [OMIM:617810] synonym: "GPIBD15" RELATED ABBREVIATION [OMIM:617810] xref: OMIM:617810 {source="MONDO:equivalentTo", source="Orphanet:529665"} xref: Orphanet:529665 {source="MONDO:equivalentTo"} xref: UMLS:C4540520 {source="OMIM:617810", source="MONDO:equivalentTo"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0002525 ! inherited lipid metabolism disorder is_a: MONDO:0015159 {source="Orphanet:529665"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015286 ! congenital disorder of glycosylation is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0024321 {source="https://orcid.org/0000-0001-6330-7526"} ! disorder of GPI anchor biosynthesis relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540520 property_value: exactMatch https://omim.org/entry/617810 property_value: exactMatch Orphanet:529665 property_value: excluded_subClassOf MONDO:0020022 [Term] id: MONDO:0060631 name: Alkuraya-Kucinskas syndrome synonym: "ALKKUCS" RELATED ABBREVIATION [OMIM:617822] synonym: "Alkuraya-Kucinskas syndrome" EXACT [OMIM:617822] xref: DOID:0111555 {source="MONDO:equivalentTo"} xref: OMIM:617822 {source="MONDO:equivalentTo"} xref: Orphanet:610569 {source="MONDO:equivalentTo"} xref: UMLS:CN737163 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: MONDO:0002254 ! syndromic disease property_value: exactMatch DOID:0111555 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN737163 property_value: exactMatch https://omim.org/entry/617822 property_value: exactMatch Orphanet:610569 [Term] id: MONDO:0060640 name: neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy synonym: "NEDMEBA" RELATED ABBREVIATION [OMIM:617862] synonym: "neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy" EXACT [OMIM:617862] xref: OMIM:617862 {source="MONDO:equivalentTo"} xref: UMLS:CN787271 {source="MONDO:equivalentTo"} is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN787271 property_value: exactMatch https://omim.org/entry/617862 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0060641 name: neurodevelopmental disorder with or without seizures and gait abnormalities synonym: "NEDSGA" RELATED ABBREVIATION [OMIM:617864] synonym: "neurodevelopmental disorder with or without seizures and gait abnormalities" EXACT [OMIM:617864] xref: OMIM:617864 {source="MONDO:equivalentTo"} xref: UMLS:CN800195 {source="MONDO:equivalentTo"} is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN800195 property_value: exactMatch https://omim.org/entry/617864 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0060642 name: neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features synonym: "NEDMAGA" RELATED ABBREVIATION [OMIM:617865] synonym: "neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features" EXACT [OMIM:617865] xref: OMIM:617865 {source="MONDO:equivalentTo"} xref: UMLS:CN800196 {source="MONDO:equivalentTo"} is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN800196 property_value: exactMatch https://omim.org/entry/617865 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0060649 name: obsolete short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies comment: Split into OMIMPS and subclass. property_value: IAO:0000231 IAO:0000229 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2758 xsd:anyURI is_obsolete: true replaced_by: MONDO:0100297 [Term] id: MONDO:0060650 name: Leber congenital amaurosis with early-onset deafness synonym: "LCAEOD" RELATED ABBREVIATION [OMIM:617879] synonym: "Leber congenital amaurosis with early-onset deafness" EXACT [OMIM:617879] xref: DOID:0112240 {source="MONDO:equivalentTo"} xref: OMIM:617879 {source="MONDO:equivalentTo"} xref: UMLS:CN807950 {source="MONDO:equivalentTo"} is_a: MONDO:0018998 {source="https://orcid.org/0000-0001-5208-3432"} ! Leber congenital amaurosis property_value: exactMatch DOID:0112240 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN807950 property_value: exactMatch https://omim.org/entry/617879 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0060663 name: congenital heart defects, multiple types, 5 synonym: "CHTD5" RELATED ABBREVIATION [OMIM:617912] synonym: "CONGENITAL heart defects, multiple types, 5" RELATED [OMIM:617912] xref: OMIM:617912 {source="MONDO:equivalentTo"} xref: UMLS:CN873437 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: MONDO:0000119 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital heart defects, multiple types relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN873437 property_value: exactMatch https://omim.org/entry/617912 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0060664 name: neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities synonym: "NEDMCR" RELATED ABBREVIATION [OMIM:617913] synonym: "neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities" EXACT [OMIM:617913] xref: DOID:0081263 {source="MONDO:equivalentTo"} xref: OMIM:617913 {source="MONDO:equivalentTo"} xref: UMLS:CN889218 {source="MONDO:equivalentTo"} is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch DOID:0081263 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN889218 property_value: exactMatch https://omim.org/entry/617913 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0060666 name: hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome synonym: "HADDTS" RELATED ABBREVIATION [OMIM:617915] synonym: "hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome" EXACT [OMIM:617915] xref: OMIM:617915 {source="MONDO:equivalentTo"} xref: UMLS:CN895589 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN895589 property_value: exactMatch https://omim.org/entry/617915 [Term] id: MONDO:0060702 name: spondyloepimetaphyseal dysplasia, di rocco type synonym: "SEMDDR" RELATED ABBREVIATION [OMIM:617974] synonym: "spondyloepimetaphyseal dysplasia, Di Rocco type" RELATED [OMIM:617974] xref: OMIM:617974 {source="MONDO:equivalentTo"} xref: UMLS:CN244923 {source="MONDO:equivalentTo"} is_a: MONDO:0100510 {source="PMID:31633310"} ! spondyloepimetaphyseal dysplasia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244923 property_value: exactMatch https://omim.org/entry/617974 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0060704 name: neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures synonym: "Elhattab-Alkuraya syndrome" RELATED [OMIM:617977] synonym: "NEDSBAS" RELATED ABBREVIATION [OMIM:617977] synonym: "neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures" EXACT [OMIM:617977] xref: OMIM:617977 {source="MONDO:equivalentTo"} xref: UMLS:CN244929 {source="MONDO:equivalentTo"} is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244929 property_value: exactMatch https://omim.org/entry/617977 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0060707 name: Ververi-Brady syndrome synonym: "VERBRAS" RELATED ABBREVIATION [OMIM:617982] synonym: "Ververi-Brady syndrome" EXACT [OMIM:617982] xref: OMIM:617982 {source="MONDO:equivalentTo"} xref: Orphanet:580940 {source="MONDO:equivalentTo"} xref: UMLS:CN244927 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: MONDO:0000508 {source="https://clinicalgenome.org/affiliation/40006"} ! syndromic intellectual disability property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244927 property_value: exactMatch https://omim.org/entry/617982 property_value: exactMatch Orphanet:580940 [Term] id: MONDO:0060711 name: Jaberi-Elahi syndrome synonym: "JABELS" RELATED ABBREVIATION [OMIM:617988] synonym: "Jaberi-Elahi syndrome" EXACT [OMIM:617988] xref: OMIM:617988 {source="MONDO:equivalentTo"} xref: UMLS:CN244943 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: MONDO:0002254 ! syndromic disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244943 property_value: exactMatch https://omim.org/entry/617988 [Term] id: MONDO:0060712 name: obsolete developmental delay, intellectual disability, obesity, and dysmorphic features property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4803 xsd:anyURI is_obsolete: true replaced_by: MONDO:0035133 [Term] id: MONDO:0060713 name: deafness, congenital heart defects, and posterior embryotoxon synonym: "DCHE" RELATED ABBREVIATION [OMIM:617992] synonym: "deafnes, congenital heart defects, and posterior embryotoxon" RELATED [OMIM:617992] xref: MESH:C566604 {source="MONDO:equivalentTo"} xref: OMIM:617992 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://identifiers.org/mesh/C566604 property_value: exactMatch https://omim.org/entry/617992 [Term] id: MONDO:0060720 name: congenital disorder of glycosylation with defective fucosylation synonym: "CDGF" RELATED ABBREVIATION [OMIM:618005] synonym: "congenital disorder of glycosylation with defective fucosylation" EXACT [OMIM:618005] xref: OMIMPS:618005 {source="MONDO:equivalentTo"} xref: UMLS:CN248517 {source="MONDO:equivalentTo"} is_a: MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital disorder of glycosylation property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN248517 property_value: exactMatch https://omim.org/phenotypicSeries/PS618005 [Term] id: MONDO:0060722 name: obsolete neurodevelopmental disorder with brain, liver, and lung abnormalities is_obsolete: true replaced_by: MONDO:0013346 [Term] id: MONDO:0060724 name: glycosylphosphatidylinositol biosynthesis defect 17 synonym: "glycosylphosphatidylinositol biosynthesis defect 17" EXACT [OMIM:618010] synonym: "GPIBD17" RELATED ABBREVIATION [OMIM:618010] xref: OMIM:618010 {source="MONDO:equivalentTo"} xref: UMLS:CN248527 {source="MONDO:equivalentTo"} is_a: MONDO:0002525 ! inherited lipid metabolism disorder is_a: MONDO:0015286 ! congenital disorder of glycosylation is_a: MONDO:0024321 ! disorder of GPI anchor biosynthesis property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN248527 property_value: exactMatch https://omim.org/entry/618010 [Term] id: MONDO:0060729 name: protoporphyria, erythropoietic, 2 synonym: "EPP2" RELATED ABBREVIATION [OMIM:618015] synonym: "protoporphyria, erythropoietic, 2" EXACT [OMIM:618015] xref: OMIM:618015 {source="MONDO:equivalentTo"} xref: UMLS:CN248523 {source="MONDO:equivalentTo"} is_a: MONDO:0019263 ! autosomal erythropoietic protoporphyria property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN248523 property_value: exactMatch https://omim.org/entry/618015 [Term] id: MONDO:0060733 name: humerofemoral hypoplasia with radiotibial ray deficiency synonym: "Hfhrtrd" RELATED [OMIM:618022] synonym: "HHRRD" RELATED ABBREVIATION [OMIM:618022] synonym: "humerofemoral hypoplasia with radiotibial ray deficiency" EXACT [OMIM:618022] xref: OMIM:618022 {source="MONDO:equivalentTo"} xref: UMLS:CN248526 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN248526 property_value: exactMatch https://omim.org/entry/618022 [Term] id: MONDO:0060745 name: intellectual developmental disorder with or without epilepsy or cerebellar ataxia synonym: "IDDECA" RELATED ABBREVIATION [OMIM:618060] synonym: "intellectual developmental disorder with or without epilepsy or cerebellar ataxia" EXACT [OMIM:618060] xref: OMIM:618060 {source="MONDO:equivalentTo"} xref: UMLS:CN252646 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN252646 property_value: exactMatch https://omim.org/entry/618060 [Term] id: MONDO:0060752 name: neurodevelopmental disorder with spasticity and poor growth synonym: "NEDSG" RELATED ABBREVIATION [OMIM:618076] synonym: "neurodevelopmental disorder with spasticity and poor growth" EXACT [OMIM:618076] xref: DOID:0070421 {source="MONDO:equivalentTo"} xref: OMIM:618076 {source="MONDO:equivalentTo"} is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch DOID:0070421 property_value: exactMatch https://omim.org/entry/618076 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0060758 name: spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits synonym: "SCA42ND" RELATED ABBREVIATION [OMIM:618087] synonym: "spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits" EXACT [OMIM:618087] xref: OMIM:618087 {source="MONDO:equivalentTo"} is_a: EFO:0009059 ! Spinocerebellar ataxia type 42 property_value: exactMatch https://omim.org/entry/618087 [Term] id: MONDO:0060759 name: neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures subset: ordo_disease synonym: "IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome" EXACT [MONDO:0035363] synonym: "NEDAMSS" RELATED ABBREVIATION [OMIM:618088] synonym: "neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures" EXACT [OMIM:618088] xref: DOID:0081327 {source="MONDO:equivalentTo"} xref: OMIM:618088 {source="MONDO:equivalentTo"} xref: Orphanet:597623 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch DOID:0081327 property_value: exactMatch https://omim.org/entry/618088 property_value: exactMatch Orphanet:597623 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3541 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0060760 name: intellectual developmental disorder with dysmorphic facies and behavioral abnormalities synonym: "IDDFBA" RELATED ABBREVIATION [OMIM:618089] synonym: "INTELLECTUAL developmental disorder with DYSMORPHIC facies and behavioral abnormalities" RELATED [OMIM:618089] synonym: "INTELLECTUAL developmental disorder with DYSMORPHIC facies and behavioural abnormalities" RELATED OMO:0003005 [] xref: OMIM:618089 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder is_a: MONDO:0000508 {source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability property_value: exactMatch https://omim.org/entry/618089 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0060761 name: neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum synonym: "NEDEHCC" RELATED ABBREVIATION [OMIM:618090] synonym: "neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum" EXACT [OMIM:618090] xref: OMIM:618090 {source="MONDO:equivalentTo"} is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch https://omim.org/entry/618090 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0060763 name: intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities def: "Any BAFopathy in which the cause of the disease is a mutation in the BCL11B gene." [MONDO:patterns/OMIM_disease_series_by_gene, PMID:30580808] synonym: "BCL11B-related BAFopathy" EXACT [https://orcid.org/0000-0001-7451-4467, PMID:30580808] synonym: "IDDSFTA" RELATED ABBREVIATION [OMIM:618092] synonym: "intellectual developmental disorder with dysmorphic facies, speech delay, and t-cell abnormalities" EXACT [OMIM:618092, OMIM:genemap2] synonym: "INTELLECTUAL developmental disorder with speech delay, DYSMORPHIC facies, and T-cell abnormalities" RELATED [OMIM:618092] xref: OMIM:618092 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy property_value: exactMatch https://omim.org/entry/618092 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3939 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0060765 name: fibroepithelial polyp def: "A polypoid lesion composed of fibrous tissue and epithelium. Representative examples include skin tag, anal fibroepithelial polyp, and gingival fibroepithelial polyp." [NCIT:C3337] synonym: "fibroepithelial polyp" EXACT [NCIT:C3337] synonym: "fibropapilloma, benign" EXACT [NCIT:C3337] xref: NCIT:C3337 {source="MONDO:equivalentTo"} is_a: EFO:0000662 {source="NCIT:C3337"} ! polyp property_value: exactMatch NCIT:C3337 [Term] id: MONDO:0060766 name: anal polyp def: "A non-neoplastic or neoplastic polypoid lesion that arises from the anus. Representative examples include the fibroepithelial polyp and squamous papilloma." [NCIT:C3957] synonym: "anal polyp" EXACT [NCIT:C3957] synonym: "polyp of anus" EXACT [NCIT:C3957] synonym: "polyp of the anus" EXACT [NCIT:C3957] xref: NCIT:C3957 {source="MONDO:equivalentTo"} xref: SCTID:88580009 {source="MONDO:equivalentTo"} xref: UMLS:C0267573 {source="MONDO:equivalentTo"} is_a: EFO:0009660 {source="NCIT:C3957"} ! anus disease is_a: MONDO:0021398 ! polyp of rectum is_a: MONDO:0024292 {source="NCIT:C3957"} ! gastrointestinal polyp property_value: exactMatch http://identifiers.org/snomedct/88580009 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267573 property_value: exactMatch NCIT:C3957 property_value: gwas:trait "true" xsd:boolean [Term] id: MONDO:0060779 name: acquired Fanconi syndrome def: "Fanconi Syndrome caused by exposure to noxious agents." [NCIT:C78296] synonym: "acquired Fanconi syndrome" EXACT [NCIT:C78296] xref: NCIT:C78296 {source="MONDO:equivalentTo"} xref: SCTID:236467001 {source="MONDO:equivalentTo"} xref: UMLS:C0341702 {source="MONDO:equivalentTo"} is_a: MONDO:0001083 {source="NCIT:C78296"} ! Fanconi renotubular syndrome intersection_of: MONDO:0001083 ! Fanconi renotubular syndrome intersection_of: has_characteristic MONDO:0021141 ! acquired relationship: has_characteristic MONDO:0021141 ! acquired property_value: exactMatch http://identifiers.org/snomedct/236467001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341702 property_value: exactMatch NCIT:C78296 [Term] id: MONDO:0100000 name: MED12-related intellectual disability syndrome def: "An X-linked syndromic intellectual disability that that includes subtypes of the heterogeneous, eponymously named Lujan-Fryns syndrome, X-linked Ohdo syndrome, and Optiz-Kaveggia/ FG syndrome, which is caused by mutations in the gene MED12. The common and most penetrant phenotype shared amongst these disease entities is intellectual disability, with dysgenesis or agenesis of the corpus callosum, blepharophimosis, and marfanoid habitus having variable phenotypic expressivity." [https://orcid.org/0000-0002-6733-369X, PMID:20301719] synonym: "MED12 X-linked syndromic intellectual disability" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "MED12-related intellectual disability syndrome" EXACT [] synonym: "X-linked syndromic intellectual disability caused by mutation in MED12" EXACT [] is_a: MONDO:0020119 {source="MONDO:Redundant", source="https://clinicalgenome.org/affiliation/40060/", source="https://orcid.org/0000-0002-6733-369X"} ! X-linked syndromic intellectual disability property_value: http://purl.org/dc/elements/1.1/date 2018-03-09T01:45:27Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0100009 name: structural congenital heart disease, multiple types - GATA4 def: "Any congenital heart disease in which the cause of the disease is a mutation in the GATA4 gene." [https://clinicalgenome.org/affiliation/40130/, MONDO:patterns/disease_series_by_gene, PMID:15810002, PMID:18672102, PMID:22101736, PMID:28991257] is_a: EFO:0005207 {source="https://clinicalgenome.org/affiliation/40130/"} ! congenital heart disease property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5796 xsd:anyURI [Term] id: MONDO:0100016 name: early-onset generalized dystonia synonym: "A generalised isolated dystonia characterised by early-onset, which may be clinically indistinguishable from DYT-TOR1A and may be the most common cause of early-onset generalised dystonia, at least outside the Askenazi Jewish population." EXACT OMO:0003005 [] synonym: "A generalized isolated dystonia characterized by early-onset, which may be clinically indistinguishable from DYT-TOR1A and may be the most common cause of early-onset generalized dystonia, at least outside the Askenazi Jewish population." EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/, PMID:27839873, PMID:27992417] synonym: "DYT-KMT2B" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/] synonym: "early-onset generalised isolated dystonia" RELATED OMO:0003005 [] synonym: "early-onset generalized isolated dystonia" RELATED [] synonym: "early-onset, generalised dystonia with mild syndromic features" EXACT OMO:0003005 [] synonym: "early-onset, generalized dystonia with mild syndromic features" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/] is_a: MONDO:0000476 {source="https://orcid.org/0000-0001-5208-3432"} ! generalized dystonia property_value: http://purl.org/dc/elements/1.1/date 2018-05-25T20:53:07Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100017 name: pityriasis rubra pilaris def: "A group of skin conditions that cause constant inflammation and scaling of the skin. People with PRP have reddish, scaly patches that may occur everywhere on the body, or only on certain areas. Some people with PRP also develop thickened skin on the underside of the hands and feet (palmoplantar keratoderma), various nail abnormalities, and/or thinning of the hair. There are several types of PRP classified by age when symptoms begin, body areas involved, and whether other conditions are present. This condition occurs in adults (adult onset PRP) as well as children (juvenile onset PRP)." [GARD:0007401] subset: gard_rare {source="GARD:0007401"} xref: DOID:9212 {source="MONDO:equivalentTo"} xref: ICD10CM:L44.0 {source="MONDO:equivalentTo", source="Orphanet:2897", source="Orphanet:2897/specific", source="DOID:9212", source="Orphanet:2897/e"} xref: ICD9:696.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9212"} xref: MESH:D010916 {source="MONDO:equivalentTo", source="Orphanet:2897", source="DOID:9212", source="Orphanet:2897/e"} xref: NCIT:C85014 {source="MONDO:equivalentTo", source="DOID:9212"} xref: SCTID:3755001 {source="MONDO:equivalentTo", source="DOID:9212"} xref: UMLS:C0032027 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2897", source="DOID:9212", source="NCIT:C85014", source="OMIM:173200", source="Orphanet:2897/e"} is_a: EFO:1000697 {source="https://orcid.org/0000-0001-5208-3432"} ! exanthem is_a: MONDO:0019270 {source="https://orcid.org/0000-0001-5208-3432"} ! erythrokeratoderma property_value: exactMatch DOID:9212 property_value: exactMatch http://identifiers.org/mesh/D010916 property_value: exactMatch http://identifiers.org/snomedct/3755001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032027 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/L44.0 property_value: exactMatch NCIT:C85014 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3470 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7401/pityriasis-rubra-pilaris xsd:string {source="GARD:0007401"} [Term] id: MONDO:0100022 name: neonatal/infantile epilepsy syndrome def: "An epilepsy sydrome that has an onset during the neonatal or infantile stage of life." [] comment: This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. is_a: MONDO:0015650 {source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy syndrome property_value: http://purl.org/dc/elements/1.1/date 2018-06-22T23:34:03Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-8486-0558 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1640 xsd:anyURI [Term] id: MONDO:0100030 name: adolescent/adult-onset epilepsy syndrome def: "An epilepsy syndrome that has an onset during the adolescent or adult stage of life." [] comment: This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. is_a: MONDO:0015650 {source="https://orcid.org/0000-0001-8486-0558"} ! epilepsy syndrome property_value: http://purl.org/dc/elements/1.1/date 2018-06-23T01:43:18Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-8486-0558 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/1640 xsd:anyURI [Term] id: MONDO:0100033 name: metabolic epilepsy def: "Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies. Metabolic disorders have genetic origin; however, the metabolic abnormalities are a separate disorder interposed between the genetic defect and the epilepsy." [https://orcid.org/0000-0001-8486-0558, https://www.epilepsydiagnosis.org/etiology/metabolic-groupoverview.html] is_a: EFO:0000474 {source="https://orcid.org/0000-0001-8486-0558"} ! epilepsy property_value: http://purl.org/dc/elements/1.1/date 2018-06-23T18:55:00Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100035 name: structural epilepsy def: "Structural epilepsies are conceptualized as having a distinct structural brain abnormality that has been demonstrated to be associated with a substantially increased risk of epilepsy in appropriately designed studies. The structural brain abnormality can be acquired (such as due to stroke, trauma or infection) or may be of genetic origin; however, as we currently understand it, the structural brain abnormality is a separate disorder interposed between the acquired or genetic defect and the epilepsy." [https://orcid.org/0000-0001-8486-0558, https://www.epilepsydiagnosis.org/etiology/structural-groupoverview.html] is_a: EFO:0000474 {source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy property_value: http://purl.org/dc/elements/1.1/date 2018-06-23T19:24:32Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100036 name: variable age onset epilepsy def: "An epilepsy syndrome that has an onset during variable ages and stages of life." [https://www.epilepsydiagnosis.org/syndrome/ffevf-overview.html#] synonym: "variable age at onset electroclinical syndrome" BROAD [DOID:0050706] xref: DOID:0050706 {source="MONDO:equivalentTo"} is_a: EFO:0000474 {source="https://orcid.org/0000-0001-8486-0558"} ! epilepsy property_value: exactMatch DOID:0050706 property_value: http://purl.org/dc/elements/1.1/date 2018-06-23T19:42:08Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-8486-0558 [Term] id: MONDO:0100038 name: complex neurodevelopmental disorder def: "A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy)." [https://orcid.org/0000-0002-6733-369X, https://www.clinicalgenome.org/working-groups/clinical-domain/neurodevelopmental-disorders/] synonym: "complex neurodevelopmental disorder" EXACT [] is_a: EFO:0010642 {source="https://orcid.org/0000-0002-4142-7153"} ! Neurodevelopmental disorder property_value: excluded_subClassOf MONDO:0019117 {source="https://orcid.org/0000-0002-6733-369X"} property_value: http://purl.org/dc/elements/1.1/date 2018-06-29T18:21:11Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0100039 name: CDKL5 disorder def: "A monogenic disease that has material basis in mutation in the CDKL5 gene." [PMID:21154482, PMID:22872100, PMID:27080038, PMID:27528505] comment: Subtypes of the heterogeneous, eponymously named Early Infantile Epileptic Encephalopathy, Atypical Rett Syndrome, West Syndrome are caused by mutations in the gene CDKL5. The common and most penetrant phenotype shared among these disease entities is early onset epilepsy, progressive microcephaly, dysmorphic facial features, and intellectual disability, with stereotypic hand movements, respiratory impairment with breath holding and hyperventilation having variable phenotypic expressivity. {xref="https://orcid.org/0000-0002-6733-369X"} synonym: "CDKL5" RELATED ABBREVIATION [GARD:0012173] synonym: "CDKL5 disorder" EXACT [] synonym: "CDKL5 inherited genetic disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CDKL5-related disorder" RELATED [GARD:0012173] synonym: "inherited genetic disease caused by mutation in CDKL5" EXACT [MONDO:design_pattern] is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0015680", source="MONDO:0015983"} ! rare property_value: excluded_subClassOf MONDO:0000508 {source="MONDO:indirect"} property_value: excluded_subClassOf MONDO:0000594 property_value: excluded_subClassOf MONDO:0015653 property_value: excluded_subClassOf MONDO:0017656 {source="MONDO:indirect"} property_value: excluded_subClassOf MONDO:0020119 property_value: http://purl.org/dc/elements/1.1/date 2018-06-29T18:32:48Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/202 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0100040 name: FOXG1 disorder def: "A monogenic disease that has material basis in mutation in the FOXG1 gene." [] comment: Subtypes of the heterogeneous, eponymously named Congenital variant of Rett Syndrome, and Atypical Rett Syndrome are caused by mutations in the gene FOXG1. The common and most penetrant phenotype shared among these disease entities is neurodevelopmental impairment present in early infancy, progressive microcephaly, and MRI of the brain showing reduced myelinization and/or abnormal corpus callosum. Stereotypic hand movements, epilepsy, and abnormal breathing can have variable phenotypic expressivity. {xref="https://orcid.org/0000-0002-6733-369X"} synonym: "FOXG1 disorder" EXACT [] synonym: "FOXG1 inherited genetic disease" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "inherited genetic disease caused by mutation in FOXG1" EXACT [] is_a: MONDO:0000594 {source="https://clinicalgenome.org/affiliation/50022/", source="https://orcid.org/0000-0001-5208-3432"} ! pervasive developmental disorder is_a: MONDO:0015653 {source="https://clinicalgenome.org/affiliation/50022/", source="https://orcid.org/0000-0001-5208-3432"} ! monogenic epilepsy is_a: MONDO:0017656 {source="https://clinicalgenome.org/affiliation/50022/", source="https://orcid.org/0000-0001-5208-3432"} ! motor stereotypies is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder relationship: disease_has_feature EFO:0000474 {source="https://github.com/monarch-initiative/mondo/issues/1520", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy property_value: excluded_subClassOf MONDO:0000508 {source="https://clinicalgenome.org/affiliation/50022/", source="https://orcid.org/0000-0001-5208-3432"} property_value: excluded_subClassOf MONDO:0015653 property_value: http://purl.org/dc/elements/1.1/date 2018-06-29T19:29:48Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0100053 name: anaphylaxis def: "An acute hypersensitivity reaction that occurs from exposure to an allergen. It results from the release of histamine and histamine-like substances from mast cells, and can present with breathing difficulty due to narrowed airways, dizziness and hypotension, skin rash, weak pulse, nausea and vomiting." [NCIT:C107101] synonym: "anaphylactic shock" EXACT [] synonym: "systemic anaphylaxis" EXACT [PMID:18596587] xref: MedDRA:10002198 xref: MESH:D000707 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: NCIT:C107101 {source="MONDO:equivalentTo"} xref: SCTID:39579001 {source="MONDO:equivalentTo"} is_a: EFO:1002003 ! hypersensitivity reaction disease property_value: exactMatch http://identifiers.org/mesh/D000707 property_value: exactMatch http://identifiers.org/snomedct/39579001 property_value: exactMatch NCIT:C107101 property_value: http://purl.org/dc/elements/1.1/date 2018-08-15T17:39:34Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4614 xsd:anyURI [Term] id: MONDO:0100054 name: idiopathic anaphylaxis def: "Idiopathic anaphylaxis is a rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment." [PMID:28890861] xref: SCTID:241954008 {source="MONDO:equivalentTo"} is_a: MONDO:0100053 {source="https://orcid.org/0000-0001-5208-3432"} ! anaphylaxis is_a: MONDO:0700007 ! idiopathic disease intersection_of: MONDO:0100053 ! anaphylaxis intersection_of: has_characteristic MONDO:0700005 ! idiopathic property_value: exactMatch http://identifiers.org/snomedct/241954008 property_value: http://purl.org/dc/elements/1.1/date 2018-08-15T17:39:53Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100058 name: hypervalinemia and hyperleucine-isoleucinemia def: "Elevated levels of plasma valine and leucine/isoleucine levels, associated with symptoms of headache and mild memory loss and attributed to biallelic variants in the BCAT2 gene. BCAT2 encodes branched-chain aminotransferase 2 which catalyzes the transamination of the branched chain amino acids to their respective α-keto acids." [PMID:25653144] synonym: "branched-chain aminotransferase deficiency" EXACT [OMIM:618850] synonym: "HVLI" EXACT ABBREVIATION [OMIM:618850] synonym: "hypervalinemia and hyperleucine-isoleucinemia" EXACT [OMIM:618850] synonym: "hypervalinemia or hyperleucine-isoleucinemia" EXACT [OMIM:618850, OMIM:genemap2] xref: OMIM:618850 {source="MONDO:equivalentTo"} is_a: MONDO:0019242 ! inborn disorder of branched-chain amino acid metabolism property_value: exactMatch https://omim.org/entry/618850 property_value: http://purl.org/dc/elements/1.1/date 2018-08-31T20:51:10Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0100061 name: PRPS1 deficiency disorder def: "A peripheral neuropathy that is characterized by variants in PRPS1, which causes decreased or impaired function of the PRPS1 enzyme, and presents as a range of peripheral neuropathies that can include features of Charcot-Marie Tooth syndrome, Arts syndrome, or nonsyndromic hearing loss." [PMID:17701900, PMID:20021999, PMID:25182139, PMID:25491489, PMID:25785835, PMID:27256512, PMID:27886419] comment: Individuals, both male and female, have been reported with familial missense variants in the PRPS1 gene. These patients have been described in the literature as having a range of phenotypes characterized as Arts syndrome, Charcot Marie Tooth syndrome, and non-syndromic hearing loss segregating in an X-linked pattern. Severity and presence of phenotypes makes it difficult to separate the non-syndromic and syndromic forms of hearing loss disorders associated with this gene. synonym: "PRPS1 deficiency disorder" EXACT [] synonym: "PRPS1-related CMTX5/Arts syndrome/XLNSHL" EXACT [] is_a: EFO:0003100 {source="PMID:17701900, PMID:20021999, PMID:25182139, PMID:25491489, PMID:25785835, PMID:27256512, PMID:27886419"} ! peripheral neuropathy relationship: disease_has_feature MONDO:0010533 {source="https://orcid.org/0000-0001-5208-3432"} ! Arts syndrome relationship: disease_has_feature MONDO:0015626 {source="MONDO:agrant9394"} ! Charcot-Marie-Tooth disease relationship: disease_has_feature MONDO:0019497 {source="MONDO:agrant9394"} ! nonsyndromic genetic hearing loss property_value: http://purl.org/dc/elements/1.1/date 2018-10-10T21:18:33Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100062 name: developmental and epileptic encephalopathy def: "A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity." [PMID:28276062] comment: Individuals, both male and female, have been reported with variants in the GABRB3 gene. De novo and familial cases have been reported, with mostly missense and a few nonsense variants identified as causative. These patients have been described in the literature as having a range of phenotypes characterized as epileptic encephalopathy, Lennox-Gastaut syndrome, Dravet syndrome-like, and childhood absence epilepsy. Severity of intellectual disability is variable among reported probands, as is the age of onset of seizure phenotypes. In one case of epileptic encephalopathy, for example, the individual presented with severe intellectual disability while seizures onset at 12 years old. Additionally, individuals have been reported with the same de novo missense variants, and have been described with varying phenotypes. {xref="PMID:26544041", xref="PMID:26704558", xref="PMID:26645412", xref="PMID:26993267", xref="PMID:27476654"} subset: clingen subset: ordo_clinical_syndrome {source="Orphanet:1934"} synonym: "DEE" EXACT ABBREVIATION [] synonym: "developmental and epileptic encephalopathy" EXACT [https://orcid.org/0000-0001-8486-0558] synonym: "early infantile epileptic encephalopathy" EXACT [DOID:0050709, MONDO:0016021] synonym: "early infantile epileptic encephalopathy with burst-suppression" EXACT [DOID:0050709] synonym: "early infantile epileptic encephalopathy with suppression-bursts" EXACT [Orphanet:1934] synonym: "EIEE" EXACT ABBREVIATION [Orphanet:1934] synonym: "epileptic encephalopathy, early infantile" EXACT [DOID:2481] synonym: "epileptic encephalopathy, infantile" EXACT [DOID:2481] synonym: "infantile epileptic encephalopathy" EXACT [MONDO:0006508] synonym: "infantile spasm" EXACT [DOID:2481] synonym: "Ohtahara syndrome" EXACT [MONDO:0000418, Orphanet:1934] xref: DOID:0050709 {source="MONDO:equivalentTo"} xref: DOID:0112202 {source="MONDO:equivalentTo"} xref: DOID:2481 {source="MONDO:equivalentObsolete", source="EFO:1000643"} xref: EFO:1000643 {source="MONDO:equivalentTo"} xref: ICD9:345.10 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:345.6 {source="DOID:2481"} xref: MedDRA:10071545 {source="Orphanet:1934/e", source="Orphanet:1934"} xref: NCIT:C122814 {source="MONDO:equivalentTo"} xref: NCIT:C84788 {source="MONDO:directSiblingOf", source="DOID:2481"} xref: OMIMPS:308350 {source="MONDO:pnr", source="MONDO:equivalentTo"} xref: Orphanet:1934 {source="MONDO:equivalentTo"} xref: SCTID:230429005 {source="MONDO:equivalentTo"} xref: SCTID:28055006 {source="MONDO:directSiblingOf", source="DOID:2481"} xref: UMLS:C0037769 {source="MONDO:directSiblingOf", source="DOID:2481"} is_a: EFO:0005917 {source="DOID:2481"} ! generalised epilepsy is_a: MONDO:0100022 {source="Orphanet:1934", source="https://orcid.org/0000-0001-8486-0558"} ! neonatal/infantile epilepsy syndrome is_a: MONDO:0100038 {source="https://orcid.org/0000-0003-1245-3907"} ! complex neurodevelopmental disorder is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: closeMatch http://identifiers.org/meddra/10071545 property_value: exactMatch DOID:0050709 property_value: exactMatch DOID:0112202 property_value: exactMatch http://identifiers.org/snomedct/230429005 property_value: exactMatch https://omim.org/phenotypicSeries/PS308350 property_value: exactMatch NCIT:C122814 property_value: exactMatch Orphanet:1934 property_value: excluded_subClassOf MONDO:0015921 {source="Orphanet:1934"} property_value: excluded_subClassOf MONDO:0024321 {source="https://orcid.org/0000-0001-6330-7526"} property_value: http://purl.org/dc/elements/1.1/date 2018-10-10T22:04:15Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/19 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0100064 name: tyrosine hydroxylase deficiency def: "Tyrosine hydroxylase (TH) deficiency is an autosomal recessive disorder characterized by a spectrum of phenotypic features, based on severity and response to levodopa. It can be broadly categorized into TH-deficient dopa-responsive dystonia (mild, with dramatic and sustained response to levodopa), TH-deficiency infantile parkinsonism with motor delay (severe, with incomplete response to levodopa), and TH-deficiency infantile encephalopathy (very severe, with little to no response to levodopa)." [https://orcid.org/0000-0002-5655-9589, PMID:20301610] synonym: "TH deficiency" EXACT [https://orcid.org/0000-0002-5655-9589] synonym: "tyrosine 3-monooxygenase deficiency" EXACT [https://orcid.org/0000-0002-5655-9589] synonym: "tyrosine Hydroxylase deficiency" EXACT [OMIM:605407] synonym: "tyrosine hydroxylase deficiency" EXACT [] xref: NCIT:C157158 {source="MONDO:equivalentTo"} is_a: MONDO:0019219 ! inborn disorder of neurotransmitter metabolism and transport property_value: exactMatch NCIT:C157158 property_value: http://purl.org/dc/elements/1.1/date 2018-11-09T23:43:34Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100069 name: hearing impairment and infertile male syndrome def: "A syndromic genetic deafness characterized by segregation of nonsyndromic hearing loss in females and hearing loss with infertility in males. Affected males have been reported to have low count to absent sperm, immobile sperm, and/or sperm with abnormal morphology." [https://orcid.org/0000-0003-1245-3907, PMID:29293958] comment: There appear to be two distinct diseases that segregate with autosomal recessive variants. AR variants in CDC14A segregate in at least two families with nonsyndromic hearing loss in which affected males have fathered children (PMID:29293958). Additionally, there are at least five families that segregate with AR variants in CDC14A in which affected females have nonsyndromic hearing loss and affected males have hearing loss and infertility (PMID:29293958). synonym: "hearing impairment and infertile male syndrome" EXACT [] synonym: "HIIMS" EXACT ABBREVIATION [] is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: http://purl.org/dc/elements/1.1/date 2018-12-17T19:16:55Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100070 name: neuroendocrine disorder def: "A disease or disorder that affects the neuroendocrine gland, any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli." [] synonym: "neuroendocrine system disease" EXACT [] is_a: EFO:0000618 ! nervous system disease is_a: EFO:0001379 ! endocrine system disease property_value: http://purl.org/dc/elements/1.1/date 2018-12-17T22:24:52Z xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100080 name: cardioectodermal syndrome def: "Cardioectodermal syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern, or in an autosomal recessive inheritance pattern which may result in an earlier and/or more severe phenotypic presentation." [PMID:27933191] synonym: "cardio-ectodermal syndrome" EXACT [https://orcid.org/0000-0002-6733-369X] is_a: MONDO:0002254 ! syndromic disease property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100083 name: hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 def: "This is an autosomal dominant disorder caused by mutations in the RUNX1 gene and is characterized by mild to moderate thrombocytopenia, platelet functional and/or ultrastructural defects and a predisposition to hematologic malignancies, most often AML and MDS, and less frequently T-ALL." [https://clinicalgenome.org/affiliation/50034/] synonym: "asprin-like platelet disorder" RELATED [GARD:0010352, https://clinicalgenome.org/affiliation/50034/] synonym: "familial platelet disorder with associated myeloid malignancy" EXACT [https://clinicalgenome.org/affiliation/50034/, Orphanet:71290] synonym: "familial platelet syndrome with predisposition to acute myelogenous leukaemia" EXACT OMO:0003005 [] synonym: "familial platelet syndrome with predisposition to acute myelogenous leukemia" EXACT [https://clinicalgenome.org/affiliation/50034/, Orphanet:71290] synonym: "familial thrombocytopenia with propensity to acute myelogenous leukaemia" RELATED OMO:0003005 [] synonym: "familial thrombocytopenia with propensity to acute myelogenous leukemia" RELATED [GARD:0010352, https://clinicalgenome.org/affiliation/50034/] synonym: "FPD/AML syndrome" EXACT [https://clinicalgenome.org/affiliation/50034/, Orphanet:71290] synonym: "FPDMM" RELATED ABBREVIATION [https://clinicalgenome.org/affiliation/50034/, MONDO:Lexical, OMIM:601399] synonym: "FPS/AML syndrome" EXACT [https://clinicalgenome.org/affiliation/50034/, Orphanet:71290] synonym: "hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1" EXACT [] synonym: "platelet disorder, aspirin-like" RELATED [https://clinicalgenome.org/affiliation/50034/, OMIM:601399] synonym: "platelet disorder, familial, with associated myeloid malignancy" RELATED [https://clinicalgenome.org/affiliation/50034/, MONDO:Lexical, OMIM:601399] synonym: "thrombocytopenia, familial, with propensity to acute myelogenous leukaemia" RELATED OMO:0003005 [] synonym: "thrombocytopenia, familial, with propensity to acute myelogenous leukemia" RELATED [https://clinicalgenome.org/affiliation/50034/, OMIM:601399] xref: OMIM:601399 {source="Orphanet:71290/e", source="MONDO:equivalentTo", source="Orphanet:71290"} is_a: MONDO:0011071 {source="https://clinicalgenome.org/affiliation/50034/"} ! hereditary thrombocytopenia and hematologic cancer predisposition syndrome property_value: exactMatch https://omim.org/entry/601399 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100084 name: alpha-actinopathy def: "A musculoskeletal system disorder that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle α-actin gene (ACTA1). These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, myopathic face, respiratory dysfunction, and rarely cardiac involvement. Specific skeletal muscle structural lesions visible on muscle biopsy include actin accumulations, nemaline and intranuclear bodies, fiber-type disproportion, cores, caps, dystrophic features and zebra bodies. Disorders associated with ACTA1 pathogenic variants can have autosomal dominant (90%) or recessive (10%) inheritance." [PMID:22825594] comment: The most penetrant phenotype among all of the actinopathy disease entities is muscular weakness. While nemaline myopathy is the most common presentation, several other myopathies have been reported in association with ACTA1 mutations. The absence of clearly defined and/or distinct differences in molecular mechanism, coupled with noted phenotypic variability (both intra- and inter-familial) for individual variants, indicates that these entities are part of the same clinical spectrum. synonym: "ACTA1 disease" EXACT [] synonym: "actin myopathy" BROAD [] synonym: "actinopathy" BROAD [] synonym: "alpha actinopathy" EXACT [] synonym: "alpha-actinopathy" EXACT [] is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0016139 {source="https://github.com/monarch-initiative/mondo/issues/900"} ! qualitative or quantitative protein defects in neuromuscular diseases is_a: MONDO:0019952 {source="https://github.com/monarch-initiative/mondo/issues/900"} ! congenital myopathy property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/900 xsd:anyURI [Term] id: MONDO:0100087 name: familial Alzheimer disease def: "A degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). These cases appear to be inherited in an autosomal dominant manner." [GARD:0000632] synonym: "Alzheimer disease, familial" EXACT [DOID:10652, MESH:C536597] synonym: "FAD" EXACT ABBREVIATION [GARD:0000632] synonym: "GARD:0000632" EXACT [MONDO:equivalentTo] is_a: MONDO:0004975 {source="https://orcid.org/0000-0001-5208-3432"} ! Alzheimer disease property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100089 name: GATA1-Related X-Linked Cytopenia def: "X-Linked cytopenia characterized by anemia and/or thrombocytopenia. Additional features including platelet dysfunction, dyserythropoesis, mild beta-thalassemia, neutropenia, or congenital erythropoetic porphyria may be present. These GATA1 variants are germline as opposed to GATA1 variants seen in leukemia." [https://clinicalgenome.org/affiliation/40028/, https://orcid.org/0000-0001-6964-7302, PMID:18930124, PMID:20301538, PMID:28895773] synonym: "GATA1-Related Cytopenia" EXACT [] synonym: "GATA1-Related X-Linked Cytopenia" EXACT [] is_a: EFO:0005803 ! hematologic disease property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100091 name: inherited pseudoxanthoma elasticum def: "An inheritable form of pseudoxanthoma elasticum (PXE), that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinationswith their primary physician." [https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum] comment: Pathophysiology: In PXE, there is mineralization (accumulation of calcium and other minerals) and fragmentation of the elastin-containing fibers in connective tissue, but primarily in the midlaminar layer of the dermis, Bruch's membrane and the midsized arteries.[12] Recent studies hypothesize that PXE is a metabolic disease, and that its features arise because metabolites of vitamin K cannot reach peripheral tissues subset: gard_rare {source="GARD:0009643"} synonym: "inherited Gronblad Strandberg syndrome" EXACT [https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum] synonym: "inherited PXE" EXACT [https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum] is_a: MONDO:0024308 {source="https://github.com/monarch-initiative/mondo/issues/1046", source="https://orcid.org/0000-0002-6601-2165"} ! pseudoxanthoma elasticum (inherited or acquired) property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum xsd:anyURI {source="GARD:0009643"} [Term] id: MONDO:0100095 name: neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures def: "Autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene." [https://orcid.org/0000-0002-4650-631X, PMID:3010008, PMID:30401461] synonym: "CONDSIAS" EXACT ABBREVIATION [OMIM:618170] synonym: "neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures" EXACT [OMIM:618170] xref: DOID:0070352 {source="MONDO:equivalentTo"} xref: OMIM:618170 {source="MONDO:equivalentTo"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0024237 ! inherited neurodegenerative disorder property_value: exactMatch DOID:0070352 property_value: exactMatch https://omim.org/entry/618170 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100096 name: COVID-19 def: "A disease caused by infection with severe acute respiratory syndrome coronavirus 2." [https://www.cdc.gov/coronavirus/2019-ncov/downloads/2019-ncov-factsheet.pdf, MONDO:patterns/infectious_disease_by_agent] synonym: "2019 novel coronavirus" RELATED [https://orcid.org/0000-0002-2825-0621, https://www.cdc.gov/coronavirus/2019-ncov/index.html] synonym: "2019 novel coronavirus infection" EXACT [https://www.cdc.gov/coronavirus/2019-ncov/about/index.html] synonym: "2019-nCoV" RELATED [https://nextstrain.org/groups/blab/sars-like-cov, https://orcid.org/0000-0002-2825-0621] synonym: "2019-nCoV infection" EXACT [https://www.cdc.gov/coronavirus/2019-ncov/index.html] synonym: "beta-CoV" RELATED [https://nextstrain.org/groups/blab/sars-like-cov, https://orcid.org/0000-0002-2825-0621] synonym: "beta-CoVs" RELATED [https://nextstrain.org/groups/blab/sars-like-cov, https://orcid.org/0000-0002-2825-0621] synonym: "betacoronavirus" RELATED [https://nextstrain.org/groups/blab/sars-like-cov, https://orcid.org/0000-0002-2825-0621] synonym: "coronavirus disease 2019" EXACT [https://www.cdc.gov/coronavirus/2019-ncov/about/index.html] synonym: "CoV-2 infection" EXACT [] synonym: "SARS-coronavirus 2" RELATED [doi:10.1038/s41564-020-0695-z, https://orcid.org/0000-0002-2825-0621] synonym: "SARS-CoV-2" RELATED [doi:10.1038/s41564-020-0695-z] synonym: "severe acute respiratory syndrome coronavirus 2" RELATED [doi:10.1038/s41564-020-0695-z] synonym: "severe acute respiratory syndrome coronavirus 2 infectious disease" EXACT [MONDO:patterns/infectious_disease_by_agent] synonym: "β-coronavirus" RELATED [https://nextstrain.org/groups/blab/sars-like-cov, https://orcid.org/0000-0002-2825-0621] synonym: "β-CoV" RELATED [https://nextstrain.org/groups/blab/sars-like-cov, https://orcid.org/0000-0002-2825-0621] synonym: "β-CoVs" RELATED [https://nextstrain.org/groups/blab/sars-like-cov, https://orcid.org/0000-0002-2825-0621] xref: DOID:0080600 {source="MONDO:equivalentTo"} xref: ICD10CM:U07.1 {source="MONDO:equivalentTo"} xref: MESH:C000657245 {source="MONDO:equivalentObsolete"} xref: MESH:D000086382 {source="MONDO:equivalentTo"} xref: SCTID:840539006 {source="MONDO:equivalentTo"} is_a: MONDO:0020753 ! Orthocoronavirinae infectious disease property_value: exactMatch DOID:0080600 property_value: exactMatch http://identifiers.org/mesh/D000086382 property_value: exactMatch http://identifiers.org/snomedct/840539006 property_value: exactMatch http://purl.bioontology.org/ontology/ICD10CM/U07.1 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100100 name: SELENON-related myopathy def: "Myopathy caused by pathogenic variants in SELENON that is congenital or present early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement. Spinal rigidity of varying severity is often present." [PMID:12192640] synonym: "SELENON-related myopathy" EXACT [] synonym: "SEPN1-related myopathy" EXACT [PMID:12192640] is_a: MONDO:0019952 ! congenital myopathy property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100101 name: fetal akinesia deformation sequence 1 def: "Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the MUSK gene." [OMIM:208150] synonym: "FADS1" EXACT ABBREVIATION [OMIM:208150] synonym: "Pena-Shokeir syndrome type 1" EXACT [Orphanet:994] synonym: "Pena-Shokeir syndrome, type 1" EXACT [OMIM:208150] xref: DOID:0111377 {source="MONDO:equivalentTo"} xref: OMIM:208150 {source="Orphanet:994", source="MONDO:equivalentTo", source="Orphanet:994/e"} xref: Orphanet:994 {source="MONDO:equivalentTo", source="OMIM:208150"} is_a: MONDO:0008824 {source="https://orcid.org/0000-0001-5208-3432"} ! fetal akinesia deformation sequence property_value: exactMatch DOID:0111377 property_value: exactMatch https://omim.org/entry/208150 property_value: exactMatch Orphanet:994 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100108 name: TPM3-related myopathy def: "TPM3-related myopathy is a disorder of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle γ-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, motor delay, myopathic facies, scoliosis, and sometimes respiratory involvement. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, fiber-type disproportion, and dystrophic features even in patients with the same mutation." [https://clinicalgenome.org/affiliation/40031/, PMID:24692096] comment: The most penetrant phenotype among all of the TPM3-related myopathy disease entities is muscular weakness. While nemaline myopathy is the most common presentation, several other myopathies have been reported in association with TPM3 mutations. The absence of clearly defined and/or distinct differences in molecular mechanism, coupled with noted phenotypic variability (both intra- and inter-familial) for individual variants, indicates that these entities are part of the same clinical spectrum. synonym: "autosomal dominant TPM3-related myopathy" NARROW [PMID:24692096] synonym: "congenital myopathy related to TPM3" EXACT [PMID:24692096] synonym: "TPM3 myopathy" EXACT [PMID:24692096] synonym: "TPM3-related myopathy" EXACT [] is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0017303 {source="https://clinicalgenome.org/affiliation/40031/"} ! qualitative or quantitative defects of tropomyosin is_a: MONDO:0019952 {source="https://clinicalgenome.org/affiliation/40031/"} ! congenital myopathy property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100112 name: acyl-CoA binding domain containing protein 5 deficiency def: "A disorder of a single peroxisomal protein, acyl-CoA binding domain containing protein 5, which forms a contact site between the peroxisomes and the ER. The deficiency is characterized by elevated blood very long-chain fatty acids (VLCFAs), retinal dystrophy, cerebral white matter disease and psychomotor delay." [https://clinicalgenome.org/affiliation/40049/, PMID:27799409, PMID:27899449] synonym: "ACBD5 deficiency" EXACT [https://www.clinicalgenome.org/affiliation/40049/] synonym: "acyl-CoA binding domain containing protein 5 deficiency" EXACT [https://www.clinicalgenome.org/affiliation/40049/] is_a: MONDO:0017986 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of plasmalogens biosynthesis is_a: MONDO:0019233 {source="https://clinicalgenome.org/affiliation/40049/"} ! disorder of peroxisomal beta oxidation is_a: MONDO:0100372 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of peroxisomal transporter property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0100114 name: dry age related macular degeneration def: "Dry age related macular degeneration is characterized by the presence of age-related deposits called drusen and atrophy." [PMID:26319344] synonym: "dry AMD" EXACT [MedDRA:10075567, PMID:26319344] synonym: "dry ARMD" EXACT [MedDRA:10075567, PMID:26319344] xref: MedDRA:10075567 is_a: EFO:0001365 ! age-related macular degeneration property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100116 name: Middle East respiratory syndrome def: "A viral respiratory infection that is caused by the MERS coronavirus (MERS-CoV), which most often manifests with moderate to severe respiratory symptoms, including productive cough and shortness of breath, which can progress to pneumonia and acute respiratory distress syndrome." [NCIT:C128424] subset: ordo_disease synonym: "camel flu" EXACT [Wikipedia:Middle_East_respiratory_syndrome] synonym: "MERS" EXACT ABBREVIATION [NCIT:C128424] xref: DOID:0080642 {source="MONDO:equivalentTo"} xref: NCIT:C128424 {source="MONDO:equivalentTo"} xref: Orphanet:576074 {source="MONDO:equivalentTo"} xref: UMLS:C3694279 {source="MONDO:equivalentTo"} is_a: EFO:0000684 {source="Orphanet:576074"} ! respiratory system disease is_a: MONDO:0020753 {source="https://github.com/monarch-initiative/mondo/issues/1355"} ! Orthocoronavirinae infectious disease property_value: exactMatch DOID:0080642 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3694279 property_value: exactMatch NCIT:C128424 property_value: exactMatch Orphanet:576074 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100118 name: hereditary skin disorder def: "An instance of skin disease that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] synonym: "disease, genetic skin" EXACT [MESH:D012873] synonym: "diseases, genetic skin" EXACT [MESH:D012873] synonym: "genetic skin disease" EXACT [MESH:D012873, MONDO:patterns/genetic] synonym: "genetic skin diseases" EXACT [MESH:D012873] synonym: "genodermatosis" EXACT [] synonym: "skin disease, genetic" EXACT [MESH:D012873] xref: MESH:D012873 {source="MONDO:equivalentTo"} xref: SCTID:239001006 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0000701 {source="https://orcid.org/0000-0001-5208-3432"} ! skin disease intersection_of: EFO:0000701 ! skin disease intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch http://identifiers.org/mesh/D012873 property_value: exactMatch http://identifiers.org/snomedct/239001006 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5682 xsd:anyURI [Term] id: MONDO:0100120 name: vector-borne disease def: "An infectious disease where a pathogen is carried and transmitted by another organism that acts as disease vector." [https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases, Wikipedia:Vector_(epidemiology)] synonym: "vector-borne infection" EXACT [https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases, Wikipedia:Vector_(epidemiology)] synonym: "vector-borne infectious disease" EXACT [https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases, Wikipedia:Vector_(epidemiology)] xref: MESH:D000079426 {source="MONDO:equivalentTo"} is_a: EFO:0005741 ! infectious disease property_value: exactMatch http://identifiers.org/mesh/D000079426 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-2825-0621 [Term] id: MONDO:0100121 name: SCN4A-related myopathy, autosomal recessive def: "Any congenital myopathy in which the cause of the disease is a mutation in the SCN4A gene. It include is a spectrum of autosomal recessive disorders including congenital myasthenic syndrome, fetal hypokinesia, and congenital myopathy." [https://www.clinicalgenome.org/affiliation/40061/, MONDO:patterns/disease_series_by_gene] synonym: "congenital myopathy with \"corona\" fibers, selective muscle atrophy, and craniosynostosis" EXACT [] synonym: "congenital myopathy with severe fetal hypokinesia" EXACT [] synonym: "congenital myopathy with severe foetal hypokinesia" EXACT OMO:0003005 [] synonym: "myopathy with ptosis and mild dystrophic pattern" EXACT [] synonym: "SCN4A-related myopathy, autosomal recessive" EXACT [] is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0019952 {source="https://www.clinicalgenome.org/affiliation/40061/"} ! congenital myopathy relationship: disease_has_major_feature MONDO:0015469 ! craniosynostosis relationship: seeAlso https://www.clinicalgenome.org/affiliation/40061/ [Term] id: MONDO:0100122 name: GNPTAB-mucolipidosis def: "An autosomal recessive mucolipidosis disorder caused by bi-allelic variants in the GNPTAB gene. Symptoms of this condition occur across a clinical spectrum including mucolipidosis type II (ML II) and mucolipidosis type III alpha/beta (ML IIIα/β), and phenotypes intermediate between ML II and ML IIIα/β." [PMID:20301728, PMID:32651481] synonym: "GNPTAB-related disorder" EXACT [PMID:20301728, PMID:32651481] synonym: "UDP-N-acetylglucosamine-1-phosphotransferase subunit alpha/beta deficiency" EXACT [https://orcid.org/0000-0002-5655-9589] is_a: MONDO:0019248 {source="PMID:20301728", source="PMID:32651481", source="https://orcid.org/0000-0002-5655-9589"} ! mucolipidosis property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5565 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6020 xsd:anyURI [Term] id: MONDO:0100124 name: NAA10-related syndrome def: "Ab X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the NAA10 gene. Patients with variants in the NAA10 gene demonstrate symptoms such as developmental delay, intellectual disability, autism spectrum disorder, hypotonia, facial dysmorphism, cardiac anomalies, and/or skeletal anomalies." [https://clinicalgenome.org/affiliation/40006/, PMID:23871722, PMID:24431331, PMID:25099252, PMID:26522270, PMID:27094817, PMID:28967461, PMID:29558889, PMID:29748569, PMID:31088393, PMID:31127942, PMID:31174490] subset: disease_grouping synonym: "NAA10 X-linked syndromic intellectual disability" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "NAA10-related syndrome" EXACT [https://clinicalgenome.org/affiliation/40006/] synonym: "X-linked syndromic intellectual disability caused by mutation in NAA10" EXACT [MONDO:patterns/disease_series_by_gene] is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40006/", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability relationship: disease_has_feature EFO:0003756 {source="https://clinicalgenome.org/affiliation/40006/"} ! autism spectrum disorder property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0100126 name: P5CS deficiency def: "An inborn error of proline/orinthine metabolism that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene. These variants lead to a variety of neurocutaneous and motor syndromes characterized by cutis laxa, connective tissue weakness, facial dysmorphism, growth restriction, developmental delay, cataracts, hypotonia, hypertonia, and amyotrophy." [PMID:32017139] synonym: "delta1-pyrroline-5-carboxylate synthetase deficiency" EXACT [PMID:32017139] synonym: "P5CS deficiency" EXACT [] is_a: MONDO:0017355 {source="PMID:32017139"} ! inborn disorder of proline metabolism is_a: MONDO:0017356 {source="PMID:32017139"} ! inborn disorder of ornithine metabolism property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100130 name: adult acute respiratory distress syndrome def: "A very severe form of acute pulmonary failure secondary to capillary permeability impairment. The symptoms include dyspnea, hypotension and multivisceral failure. The disease is characterized by bilateral pulmonary infiltrates and severe hypoxemia due to increased alveolar-capillary permeability. The severity depends on the degree of alveolar epithelial injury, with a mortality rate of 30-50%." [Orphanet:70578] subset: ordo_disease {source="Orphanet:70578"} synonym: "adult acute respiratory distress syndrome" EXACT [MONDO:0019089] synonym: "adult ARDS" EXACT [Orphanet:70578] synonym: "adult RDS" EXACT [DOID:11394, NCIT:C3353] synonym: "adult respiratory distress syndrome" EXACT [GARD:0005698, MONDO:0001278] synonym: "adult respiratory distress syndrome, ARDS" EXACT [NCIT:C3353] synonym: "ARDS" RELATED ABBREVIATION [https://orcid.org/0000-0002-2825-0621] synonym: "respiratory distress syndrome, adult" EXACT [GARD:0005698] xref: DOID:11394 {source="MONDO:equivalentTo"} xref: MESH:D012128 {source="MONDO:equivalentTo", source="DOID:11394", source="EFO:1000637"} xref: Orphanet:70578 {source="MONDO:equivalentTo"} xref: SCTID:67782005 {source="MONDO:equivalentTo", source="DOID:11394"} xref: UMLS:C0035222 {source="MONDO:equivalentTo", source="NCIT:C3353", source="DOID:11394"} is_a: EFO:1000637 {source="https://orcid.org/0000-0001-5208-3432"} ! acute respiratory distress syndrome property_value: exactMatch DOID:11394 property_value: exactMatch http://identifiers.org/mesh/D012128 property_value: exactMatch http://identifiers.org/snomedct/67782005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035222 property_value: exactMatch Orphanet:70578 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100131 name: pediatric acute respiratory distress syndrome def: "Acute respiratory distress syndromet that occurs in pediatric patients and includes findings of new infiltrates (unilateral or bilateral) consistent with acute parenchymal disease, edema not fully explained by fluid overload or cardiac failure, and may present as new acute lung disease in setting of chronic lung disease and/or heart disease, and perinatal lung disease is excluded." [PMID:25647235, PMID:31236307] synonym: "PARDS" EXACT ABBREVIATION [PMID:25647235, PMID:31236307] is_a: EFO:1000637 {source="https://orcid.org/0000-0001-5208-3432"} ! acute respiratory distress syndrome property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100133 name: mitochondrial complex I deficiency def: "A type of mitochondrial disease charcterized by macrocephaly (large head) with progressive leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. The disease is caused by mutations in any of many genes and the inheritance pattern depends on the responsible gene." [GARD:0003908] subset: gard_rare {source="GARD:0003908"} subset: ordo_disease {source="Orphanet:2609"} synonym: "complex 1 mitochondrial respiratory chain deficiency" EXACT [GARD:0003908] synonym: "isolated complex I deficiency" EXACT [GARD:0003908] synonym: "isolated mitochondrial respiratory chain complex I deficiency" EXACT [DOID:0060536, Orphanet:2609] synonym: "isolated NADH-coenzyme Q reductase deficiency" EXACT [DOID:0060536, Orphanet:2609] synonym: "isolated NADH-CoQ reductase deficiency" EXACT [DOID:0060536, Orphanet:2609] synonym: "isolated NADH-ubiquinone reductase deficiency" EXACT [DOID:0060536, Orphanet:2609] synonym: "NADH coenzyme Q reductase deficiency" EXACT [GARD:0003908] xref: DOID:0060536 {source="MONDO:equivalentTo"} xref: MESH:C537475 {source="MONDO:equivalentTo"} xref: Orphanet:2609 {source="MONDO:equivalentTo"} xref: UMLS:C2936907 {source="MONDO:equivalentObsolete", source="Orphanet:2609/e", source="OMIM:252010", source="DOID:0060536", source="Orphanet:2609"} is_a: MONDO:0000066 ! mitochondrial complex deficiency property_value: exactMatch DOID:0060536 property_value: exactMatch http://identifiers.org/mesh/C537475 property_value: exactMatch Orphanet:2609 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3908/mitochondrial-complex-i-deficiency xsd:anyURI {xref="GARD:0003908"} [Term] id: MONDO:0100137 name: telomere syndrome def: "Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths." [PMID:29804726] synonym: "short telomere syndrome" EXACT [PMID:29804726] synonym: "STS" EXACT ABBREVIATION [PMID:29804726] xref: NCIT:C152065 {source="MONDO:equivalentTo"} is_a: MONDO:0019303 {source="https://github.com/monarch-initiative/mondo/issues/1631"} ! premature aging syndrome property_value: exactMatch NCIT:C152065 [Term] id: MONDO:0100139 name: obsolete asymptomatic COVID-19 infection def: "OBSOLETE. A COVID-19 infection where individuals test positive for SARS-CoV-2 but have no symptoms across the entire course of the disease." [https://twitter.com/EricTopol/status/1269359663591510016, https://www.covid19treatmentguidelines.nih.gov/overview/management-of-covid-19/] property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeNonDisease"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2896 xsd:anyURI is_obsolete: true consider: MONDO:0100096 [Term] id: MONDO:0100140 name: obsolete mild COVID-19 infection def: "OBSOLETE. A COVID-19 infection that presents with various signs and symptoms (e.g., fever, cough, sore throat, malaise, headache, muscle pain) without shortness of breath, dyspnea, or abnormal imaging." [https://www.covid19treatmentguidelines.nih.gov/overview/management-of-covid-19/] xref: DOID:0081014 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch DOID:0081014 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeNonDisease"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2896 xsd:anyURI is_obsolete: true consider: MONDO:0100096 [Term] id: MONDO:0100141 name: obsolete moderate COVID-19 infection def: "OBSOLETE. A COVID-19 infection where individuals who have evidence of lower respiratory disease by clinical assessment or imaging and a saturation of oxygen (SpO2) >93% on room air at sea level." [https://www.covid19treatmentguidelines.nih.gov/overview/management-of-covid-19/] property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeNonDisease"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2896 xsd:anyURI is_obsolete: true consider: MONDO:0100096 [Term] id: MONDO:0100142 name: obsolete severe COVID-19 infection def: "OBSOLETE. A COVID-19 infection where individuals have respiratory frequency >30 breaths per minute, SpO2 ≤93% on room air at sea level, ratio of arterial partial pressure of oxygen to fraction of inspired oxygen (PaO2/FiO2) <300, or lung infiltrates >50%." [https://www.covid19treatmentguidelines.nih.gov/overview/management-of-covid-19/] xref: DOID:0081013 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch DOID:0081013 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeNonDisease"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2896 xsd:anyURI is_obsolete: true [Term] id: MONDO:0100143 name: obsolete critical COVID-19 infection def: "OBSOLETE. A COVID-19 infection that involves respiratory failure, septic shock, and/or multiple organ dysfunction." [https://www.covid19treatmentguidelines.nih.gov/overview/management-of-covid-19/] xref: DOID:0081012 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch DOID:0081012 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeNonDisease"} property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2896 xsd:anyURI is_obsolete: true consider: MONDO:0100096 [Term] id: MONDO:0100146 name: ATP6AP2-related disorder def: "Variants in the gene ATP6AP2 have been associated with a multitude of diseases, including X-linked syndromic ID Hedera type, X-linked Parkinsonism-spasticity syndrome, and congenital disorder of glycosylation type 2R. Phenotypes include global developmental delay, intellectual disability, progressive neurologic decline, spasticity, seizures, infantile onset of liver failure, recurrent infections, dysmorphic features, and features of parkinsonism (rigidity, resting tremor, bradykinesia). These phenotypes do not appear in all individuals with one of the above disease assertions, but many are overlapping phenotypes." [https://clinicalgenome.org/affiliation/40006/, PMID:15746149, PMID:23595882, PMID:26376863, PMID:26467484, PMID:29127204, PMID:30985297] synonym: "ATP6AP2-related disorder" EXACT [] is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40006/", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0100147 name: SATB2 associated disorder def: "A syndromic intellectual disability disorder that is characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Most distinctive features are neurodevelopmental with invariably severely limited speech, cleft or high arched palate, dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies." [https://clinicalgenome.org/affiliation/40006/, PMID:17377962, PMID:29436146, PMID:31021519] synonym: "SAS" EXACT ABBREVIATION [Orphanet:576278] synonym: "SATB2 associated disorder" EXACT [] synonym: "SATB2-associated syndrome" EXACT [Orphanet:576278] xref: Orphanet:576278 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="https://clinicalgenome.org/affiliation/40006/"} ! syndromic intellectual disability property_value: exactMatch Orphanet:576278 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0100148 name: X-linked complex neurodevelopmental disorder def: "A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy." [https://clinicalgenome.org/affiliation/40006/, PMID:25644381, PMID:29267967] synonym: "X-linked complex neurodevelopmental disorder" EXACT [] is_a: MONDO:0000425 ! X-linked disease is_a: MONDO:0100038 {source="https://clinicalgenome.org/affiliation/40006/"} ! complex neurodevelopmental disorder is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI [Term] id: MONDO:0100150 name: RYR1-related myopathy def: "A disorder of the musculoskeletal system caused by pathogenic variants in the RYR1 gene, which encodes the ryanodine receptor type 1 protein. These variants are associated with a variety of overlapping features characterized by symmetric proximal muscle weakness, often with pronounced facial weakness with or without dysmorphism and ophthalmoparesis/ophthalmoplegia with ptosis, bulbar weakness, significant respiratory involvement, severe neonatal hypotonia, scoliosis, orthopedic deformities including arthrogryposis, hip dislocation, club feet, and King Denborough syndrome (pectus carinatum or excavatum, short stature, joint contractures, facial and skeletal deformities), malignant hyperthermia susceptibility, anesthesia-induced rhabdomyolysis, fatigue, exercise-induced hyperthermia/exertional heat stroke, and exertional myalgia. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include central core disease, multiminicore disease, cone-rod myopathy, centronuclear myopathy, and congenital fiber-type disproportion." [https://clinicalgenome.org/affiliation/40031/, PMID:30406384] synonym: "RYR1-related myopathy" EXACT [] is_a: MONDO:0019952 {source="https://clinicalgenome.org/affiliation/40031/"} ! congenital myopathy property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5658 xsd:anyURI [Term] id: MONDO:0100152 name: DKC1-related disorder def: "Any dyskeratosis congenita in which the cause of the disease is a mutation in the DKC1 gene." [https://clinicalgenome.org/affiliation/40006/, MONDO:patterns/disease_series_by_gene, PMID:10583221, PMID:12437656, PMID:14648217, PMID:19633571] synonym: "DKC1-related disorder" EXACT [] is_a: MONDO:0015780 {source="https://clinicalgenome.org/affiliation/40006/"} ! dyskeratosis congenita property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100157 name: Imerslund-Grasbeck syndrome type 2 def: "An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF)." [OMIM:618882] synonym: "Imerslund-Grasbeck syndrome 2" EXACT [OMIM:618882, OMIM:genemap2] synonym: "megaloblastic anemia, Norwegian type" EXACT [OMIM:618882] xref: OMIM:618882 {source="MONDO:equivalentTo"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0009853 {source="OMIM:618882"} ! Imerslund-Grasbeck syndrome property_value: exactMatch https://omim.org/entry/618882 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0100162 name: IKBKG-related immunodeficiency with or without ectodermal dysplasia def: "Any recessive immunodeficiency (ID), with or without ectodermal dysplasia (EDA), in which the cause of the disease is mutation in the IKBKG gene. ID/EDA-ID patients, always males, are hemizygous for an IKBKG (NEMO) mutation that preserves residual NF-κB activation (hypomorphic mutations) and may also present with osteopetrosis and lymphoedema (OL-EDA-ID)." [https://orcid.org/0000-0002-7437-8060, PMID:11047757, PMID:35163099] synonym: "NEMO related ID/EDA-ID" EXACT [https://orcid.org/0000-0002-7437-8060] is_a: MONDO:0021094 {source="PMID:11047757", source="PMID:35163099", source="https://orcid.org/0000-0002-7437-8060"} ! immunodeficiency disease property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5520 xsd:anyURI [Term] id: MONDO:0100164 name: permanent neonatal diabetes mellitus def: "Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment." [Orphanet:99885] subset: gard_rare {source="GARD:0010457"} subset: ordo_disease {source="Orphanet:99885"} synonym: "developmental delay, epilepsy, and neonatal diabetes" RELATED [OMIMPS:606176] synonym: "diabetes mellitus, permanent neonatal" RELATED [MONDO:Lexical, OMIMPS:606176] synonym: "diabetes mellitus, permanent neonatal, with neurologic features" RELATED [OMIMPS:606176] synonym: "diabetes mellitus, permanent, of infancy" RELATED [OMIMPS:606176] synonym: "monogenic diabetes of infancy" EXACT [Orphanet:99885] synonym: "PDMI" EXACT ABBREVIATION [DOID:0060639, OMIMPS:606176] synonym: "permanent diabetes mellitus of infancy" EXACT [DOID:0060639] synonym: "PNDM" EXACT ABBREVIATION [DOID:0060639, MONDO:Lexical, OMIMPS:606176, Orphanet:99885] xref: DOID:0060639 {source="MONDO:equivalentTo"} xref: MESH:C563425 {source="MONDO:equivalentTo"} xref: NCIT:C114902 {source="MONDO:equivalentTo"} xref: OMIMPS:606176 {source="Orphanet:99885", source="MONDO:equivalentTo", source="Orphanet:99885/e", source="DOID:0060639"} xref: Orphanet:99885 {source="MONDO:equivalentTo", source="OMIMPS:606176"} xref: SCTID:609565001 {source="MONDO:equivalentTo"} xref: UMLS:C1833104 {source="Orphanet:99885", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIMPS:606176", source="NCIT:C114902"} is_a: MONDO:0016391 {source="https://orcid.org/0000-0001-5208-3432"} ! neonatal diabetes mellitus is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis property_value: exactMatch DOID:0060639 property_value: exactMatch http://identifiers.org/mesh/C563425 property_value: exactMatch http://identifiers.org/snomedct/609565001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833104 property_value: exactMatch https://omim.org/phenotypicSeries/PS606176 property_value: exactMatch NCIT:C114902 property_value: exactMatch Orphanet:99885 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10457/permanent-neonatal-diabetes-mellitus xsd:anyURI {source="GARD:0010457"} [Term] id: MONDO:0100172 name: intellectual disability, autosomal dominant synonym: "autosomal dominant intellectual disability" EXACT [OMIMPS:156200] synonym: "mental retardation, autosomal dominant" BROAD DEPRECATED [OMIMPS:156200] xref: OMIMPS:156200 {source="MONDO:equivalentTo"} is_a: EFO:0005548 ! developmental disorder of mental health is_a: MONDO:0000426 ! autosomal dominant disease property_value: exactMatch https://omim.org/phenotypicSeries/PS156200 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100175 name: TTN-related myopathy def: "A disorder of the musculoskeletal system caused by pathogenic variants in the TTN gene encoding the titin protein expressed in striated muscle. These variants are associated with a variety of overlapping congenital and adult-onset myopathies characterized by non-progressive or progressive neck, axial, and limb weakness, joint contractures, early-onset respiratory insufficiency, facial weakness, congenital cardiac anomalies and/or early-onset dilated cardiomyopathy. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include increased internalized and central nuclei, minicores, and dystrophic changes." [https://clinicalgenome.org/affiliation/40031/, PMID:27854229, PMID:29691892] comment: In the absence of evidence supporting distinct differences in molecular mechanisms between the associated disease entities, as well as considerable phenotypic overlap, these entities can be considered part of a clinical spectrum of TTN-related myopathy. synonym: "congenital myopathy related to TTN" EXACT [https://clinicalgenome.org/affiliation/40031/] synonym: "TTN myopathy" EXACT [https://clinicalgenome.org/affiliation/40031/] is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0016191 {source="https://orcid.org/0000-0002-6601-2165"} ! qualitative or quantitative defects of titin is_a: MONDO:0019952 {source="https://clinicalgenome.org/affiliation/40031/"} ! congenital myopathy property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100176 name: AP-4 deficiency syndrome def: "A genetic disorder associated with variation(s) in the AP4 genes: AP4B1, AP4E1, AP4M1, and AP4S1. The phenotypes observed in individuals with genetic variants in these genes are often complex and include intellectual disability, spastic paraplegia, microcephaly, brain abnormalities, and seizures." [https://clinicalgenome.org/affiliation/40006/, PMID:29193663, PMID:29430868, PMID:30543385, PMID:32171285] synonym: "AP-4 deficiency syndrome" EXACT [] is_a: EFO:0000508 {source="https://clinicalgenome.org/affiliation/40006/"} ! genetic disorder property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100182 name: schizophrenia, susceptibility to def: "An inherited susceptibility or predisposition to developing schizophrenia." [MONDO:patterns/inherited_susceptibility] is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: predisposes_towards MONDO:0005090 ! schizophrenia relationship: predisposes_towards MONDO:0005090 ! schizophrenia property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100184 name: GTP cyclohydrolase I deficiency def: "A disease characterized by a deficiency in GTP cyclohydrolase I, which leads to a consequent reduction in BH4 and reduces the activity of three BH4-cofactor dependent enzymes - phenylalanine hydroxylase, tyrosine hydroxylase, and tryptophan hydroxylase. GTP cyclohydrolase I deficiency encompasses a spectrum of disease that includes autosomal dominant and autosomal recessive forms, with severity correlating with the residual enzyme activity. Individuals who are heterozygous for pathogenic variants in GCH1 have symptoms ranging from none (due to reduced penetrance) to dopa-responsive dystonia, which is the most common presentation in symptomatic cases, to rarer neurological presentations such as adult-onset \"benign\" parkinsonism, various types of focal dystonia, and symptoms simulating cerebral palsy or spastic paraplegia. Hyperphenylalaninemia is absent, and patients respond well to treatment with levodopa. Individuals who are homozygous or compound heterozygous for pathogenic variants in GCH1 typically present with hyperphenylalaninemia, often identified by newborn screening, and severe neurological features and due to very low or undetectable enzyme activity. Treatment with levodopa, BH4, and 5-hydroxytryptophan can improve the symptoms but does not prevent development of severe encephalopathy. Rare cases of GTP cyclohydrolase I deficiency with a phenotype that is intermediate in severity between dopa-responsive dystonia and the severe autosomal recessive form have also been described, supporting the existence a phenotypic spectrum of disease." [PMID:18044725, PMID:18276179, PMID:19234759, PMID:19332422, PMID:20818608, PMID:20842687, PMID:22729819, PMID:29471552, PMID:9566389, PMID:9667588] synonym: "GTP cyclohydrolase I deficiency" EXACT [] synonym: "GTP-cyclohydrolase I deficiency" EXACT [MONDO:0009314] is_a: MONDO:0045014 {source="https://github.com/monarch-initiative/mondo/issues/1491", source="https://orcid.org/0000-0002-5655-9589"} ! tetrahydrobiopterin metabolic process disease property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100186 name: GTP cyclohydrolase I deficiency with hyperphenylalaninemia subset: gard_rare {source="GARD:0002844"} subset: ordo_clinical_subtype {source="Orphanet:2102"} synonym: "GTP cyclohydrolase 1 deficiency" RELATED [OMIM:233910] synonym: "GTP cyclohydrolase I deficiency" RELATED [Orphanet:2102] synonym: "GTPCH deficiency" EXACT [Orphanet:2102] synonym: "HPABH4B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:233910] synonym: "hyperphenylalaninemia due to GTP cyclohydrolase deficiency" EXACT [Orphanet:2102] synonym: "hyperphenylalaninemia, BH4-deficient, B" RELATED [GARD:0002844, MONDO:Lexical, OMIM:233910] synonym: "hyperphenylalaninemia, Bh4-deficient, type B" EXACT [MONDORULE:1, OMIM:233910] synonym: "hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to GTP cyclohydrolase 1 deficiency" RELATED [OMIM:233910] xref: DOID:0112225 {source="MONDO:equivalentTo"} xref: NCIT:C141442 {source="MONDO:equivalentTo"} xref: OMIM:233910 {source="Orphanet:2102", source="MONDO:equivalentTo", source="Orphanet:2102/e"} xref: Orphanet:2102 {source="MONDO:equivalentTo", source="OMIM:233910"} xref: SCTID:23447005 {source="MONDO:equivalentTo"} xref: UMLS:C0268467 {source="Orphanet:2102", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2102/e", source="OMIM:233910"} is_a: MONDO:0016543 {source="DC-OMIM:233910", source="Orphanet:2102"} ! hyperphenylalaninemia due to tetrahydrobiopterin deficiency is_a: MONDO:0100184 {source="https://github.com/monarch-initiative/mondo/issues/1491", source="https://orcid.org/0000-0002-5655-9589"} ! GTP cyclohydrolase I deficiency property_value: exactMatch DOID:0112225 property_value: exactMatch http://identifiers.org/snomedct/23447005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268467 property_value: exactMatch https://omim.org/entry/233910 property_value: exactMatch NCIT:C141442 property_value: exactMatch Orphanet:2102 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2844/gtp-cyclohydrolase-i-deficiency xsd:anyURI {source="GARD:0002844"} [Term] id: MONDO:0100189 name: apolipoprotein A-I deficiency def: "A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD)." [Orphanet:425] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: obsoletion_candidate synonym: "ApoA-I deficiency" EXACT [Orphanet:425] synonym: "familial apoA-I deficiency" EXACT [Orphanet:425] synonym: "familial hypoalphalipoproteinemia" EXACT [Orphanet:425] xref: Orphanet:425 {source="MONDO:equivalentTo"} is_a: MONDO:0017773 ! hypoalphalipoproteinemia property_value: exactMatch Orphanet:425 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0100191 name: inherited kidney disorder def: "A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the kidney or urinary system." [https://orcid.org/0000-0002-0736-9199] synonym: "genetic renal disease" EXACT [https://orcid.org/0000-0002-0736-9199] synonym: "inherited kidney disease" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "inherited renal disorder" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "nephrogenetic disorder" EXACT [https://orcid.org/0000-0002-0736-9199] is_a: EFO:0000508 ! genetic disorder is_a: EFO:0003086 {source="https://orcid.org/0000-0002-0736-9199"} ! kidney disease intersection_of: EFO:0003086 ! kidney disease intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5681 xsd:anyURI [Term] id: MONDO:0100194 name: pregnancy associated osteoporosis def: "A severe early presentation of osteoporosis in which young women experience low trauma or spontaneous fractures, most commonly vertebral fractures, during late pregnancy or lactation." [https://orcid.org/0000-0001-9310-0163, PMID:28217686] synonym: "pregnancy and lactation-associated osteoporosis" EXACT [PMID:28217686] is_a: EFO:0003882 {source="https://github.com/monarch-initiative/mondo/issues/2040"} ! osteoporosis is_a: EFO:0009682 {source="https://github.com/monarch-initiative/mondo/issues/2040"} ! pregnancy disorder intersection_of: EFO:0003882 ! osteoporosis intersection_of: EFO:0009682 ! pregnancy disorder property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100195 name: X-linked intellectual disability with hypopituitarism def: "An X-linked intellectual disability in which the cause of the disease is a mutation in the SOX3 gene, with variable phenotypes including growth hormone deficiency due to hypopituitarism. It is undetermined if SOX3 is the only gene associated with this disease." [https://clinicalgenome.org/affiliation/40006/, PMID:24450934] is_a: MONDO:0020119 ! X-linked syndromic intellectual disability intersection_of: MONDO:0000508 ! syndromic intellectual disability intersection_of: disease_has_major_feature EFO:0001380 ! hypopituitarism relationship: disease_has_major_feature EFO:0001380 ! hypopituitarism property_value: excluded_subClassOf MONDO:0000508 {source="https://clinicalgenome.org/affiliation/40006/", source="https://github.com/monarch-initiative/mondo/issues/2045"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5588 xsd:anyURI [Term] id: MONDO:0100196 name: TPM2-related myopathy def: "A congenital myopathy of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle beta-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, amyotrophy, hypotonia, myopathic facies, scoliosis, and sometimes contractures among other phenotypes. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, core-like lesions, fiber-type disproportion, and dystrophic features all observed to some degree." [https://clinicalgenome.org/affiliation/40031/, PMID:23413262] comment: The most penetrant phenotype among all of the TPM2-related myopathy disease entities is muscular weakness. Notably, other developmental disorders such as distal arthrogryposis have also been reported in association with TPM2 mutations. While phenotypic and mechanistic similarities demonstrate that the TPM2-related myopathy disorders share a similar pathogenic mechanism, these developmental disorders characterized primarily by contractures are not considered part of the same spectrum as this entity. synonym: "autosomal dominant TPM2-related myopathy" EXACT [PMID:23413262] synonym: "congenital myopathy related to TPM2" EXACT [PMID:23413262] synonym: "TPM2 myopathy" EXACT [PMID:23413262] synonym: "TPM2-related myopathy" EXACT [] is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0017303 {source="https://clinicalgenome.org/affiliation/40031/"} ! qualitative or quantitative defects of tropomyosin is_a: MONDO:0019952 {source="https://clinicalgenome.org/affiliation/40031/"} ! congenital myopathy property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100198 name: Mendelian encephalopathy def: "An instance of encephalopathy that is caused by an inherited genomic modification in an individual." [MONDO:patterns/hereditary] is_a: EFO:0000508 {source="https://orcid.org/0000-0002-0736-9199"} ! genetic disorder property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5671 xsd:anyURI [Term] id: MONDO:0100200 name: microcephaly with intellectual disability def: "Microcephaly characterized by both microcephaly and atypical neurodevelopment, without other commonly reported non-brain related phenotypes." [https://clinicalgenome.org/affiliation/40006/] synonym: "microcephaly with neurodevelopmental phenotypes" EXACT [https://clinicalgenome.org/affiliation/40006/] is_a: MONDO:0001149 {source="https://clinicalgenome.org/affiliation/40006/"} ! microcephaly property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5725 xsd:anyURI [Term] id: MONDO:0100207 name: infantile-onset epilepsy def: "Epilepsy starting in the first 12 months of life, including self-limiting and refractory seizures, and epilepsies with and without developmental disorders." [https://clinicalgenome.org/affiliation/40005/] comment: Note, this differs from MONDO:0020071 'infantile epilepsy syndrome', as there are forms of this disease that do not have a syndromic presentation. is_a: EFO:0000474 {source="https://clinicalgenome.org/affiliation/40005/"} ! epilepsy property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5740 xsd:anyURI [Term] id: MONDO:0100210 name: growth hormone insensitivity syndrome with immune dysregulation xref: OMIMPS:245590 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0015892 {source="https://orcid.org/0000-0001-5208-3432"} ! growth hormone insensitivity syndrome property_value: exactMatch https://omim.org/phenotypicSeries/PS245590 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100211 name: growth hormone insensitivity with immune dysregulation 1, autosomal recessive subset: ordo_disease {source="Orphanet:220465"} synonym: "growth hormone insensitivity due to postreceptor defect" EXACT [OMIM:245590] synonym: "growth hormone insensitivity with immunodeficiency" RELATED [OMIM:245590] synonym: "Laron syndrome due to postreceptor defect" EXACT [OMIM:245590] synonym: "Laron syndrome with immunodeficiency" EXACT [MONDO:0009510] synonym: "Laron-like syndrome" EXACT [Orphanet:220465] synonym: "short stature due to STAT5b deficiency" EXACT [Orphanet:220465] xref: DOID:0080836 {source="MONDO:equivalentTo"} xref: MESH:C537871 {source="MONDO:equivalentTo"} xref: OMIM:245590 {source="Orphanet:220465", source="MONDO:equivalentTo", source="Orphanet:220465/e"} xref: Orphanet:220465 {source="OMIM:245590", source="MONDO:equivalentTo"} xref: SCTID:724179008 {source="MONDO:equivalentTo"} xref: UMLS:C1855548 {source="OMIM:245590", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C4510411 {source="MONDO:equivalentTo"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0015823 ! primary immunodeficiency due to a defect in adaptive immunity is_a: MONDO:0100210 ! growth hormone insensitivity syndrome with immune dysregulation property_value: exactMatch DOID:0080836 property_value: exactMatch http://identifiers.org/mesh/C537871 property_value: exactMatch http://identifiers.org/snomedct/724179008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855548 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510411 property_value: exactMatch https://omim.org/entry/245590 property_value: exactMatch Orphanet:220465 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100212 name: IFAP syndrome xref: OMIMPS:308205 {source="MONDO:equivalentTo"} is_a: MONDO:0017263 {source="PMID:20643494"} ! inherited ichthyosis syndromic form property_value: exactMatch https://omim.org/phenotypicSeries/PS308205 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2114 xsd:anyURI [Term] id: MONDO:0100213 name: IFAP syndrome with or without BRESHECK syndrome def: "An X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome." [OMIM:308205] subset: ordo_disease {source="Orphanet:2273"} synonym: "ichthyosis follicularis atrichia photophobia syndrome" RELATED [GARD:0002952] synonym: "ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, Ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia" EXACT [OMIM:308205] synonym: "ichthyosis follicularis-alopecia-photophobia syndrome" EXACT [https://clinicalgenome.org/affiliation/40006/, https://github.com/monarch-initiative/mondo/issues/1144] synonym: "ichthyosis follicularis-atrichia-photophobia syndrome" EXACT [Orphanet:2273] synonym: "IFAP syndrome" BROAD [Orphanet:2273] synonym: "IFAP syndrome with or without BRESHECK syndrome" EXACT [OMIM:308205] synonym: "IFAP syndrome with or without BRESHECK syndrome, X-linked recessive" EXACT [OMIM:308205, OMIM:genemap2] synonym: "IFAP/BRESHECK syndrome" EXACT [MONDO:0010624] xref: DOID:0111821 {source="MONDO:equivalentTo"} xref: MESH:C536085 {source="Orphanet:2273/e", source="MONDO:equivalentTo", source="Orphanet:2273"} xref: OMIM:308205 {source="Orphanet:2273/e", source="MONDO:equivalentTo", source="Orphanet:2273"} xref: Orphanet:2273 {source="OMIM:308205", source="MONDO:equivalentTo"} xref: UMLS:C1839988 {source="Orphanet:2273/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2273"} is_a: MONDO:0017269 ! X-linked ichthyosis syndrome is_a: MONDO:0020605 ! X-linked recessive disease is_a: MONDO:0100212 {xref="OMIM:308205", source="https://orcid.org/0000-0001-5208-3432"} ! IFAP syndrome property_value: exactMatch DOID:0111821 property_value: exactMatch http://identifiers.org/mesh/C536085 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839988 property_value: exactMatch https://omim.org/entry/308205 property_value: exactMatch Orphanet:2273 property_value: excluded_subClassOf MONDO:0015331 {source="Orphanet:2273"} property_value: excluded_subClassOf MONDO:0017269 {source="Orphanet:2273"} property_value: excluded_subClassOf MONDO:0021034 {source="Orphanet:2273"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0100214 name: Rajab interstitial lung disease with brain calcifications xref: OMIMPS:613658 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0004244 {source="https://orcid.org/0000-0001-5208-3432"} ! interstitial lung disease property_value: exactMatch https://omim.org/phenotypicSeries/PS613658 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100215 name: Rajab interstitial lung disease with brain calcifications 1 subset: ordo_disease {source="Orphanet:178506"} synonym: "brain calcification, Rajab type" EXACT [MONDO:0013346] synonym: "developmental delay, small stature, microcephaly, and brain calcifications" RELATED [OMIM:613658] synonym: "NEDBLLA" RELATED ABBREVIATION [OMIM:618007] synonym: "neurodevelopmental disorder with brain, liver, and lung abnormalities" EXACT [OMIM:618007] synonym: "Rajab syndrome" RELATED [OMIM:613658] xref: OMIM:613658 {source="Orphanet:178506/e", source="MONDO:equivalentTo", source="Orphanet:178506"} xref: OMIM:618007 {source="MONDO:equivalentObsolete"} xref: Orphanet:178506 {source="MONDO:equivalentTo", source="OMIM:613658"} xref: SCTID:720576001 {source="MONDO:equivalentTo"} xref: UMLS:C3150910 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613658"} xref: UMLS:CN248515 {source="MONDO:equivalentTo"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0100214 {source="OMIM:613658"} ! Rajab interstitial lung disease with brain calcifications property_value: exactMatch http://identifiers.org/snomedct/720576001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150910 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN248515 property_value: exactMatch https://omim.org/entry/613658 property_value: exactMatch Orphanet:178506 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100218 name: arthrogryposis multiplex congenita 5 synonym: "AMC5" EXACT ABBREVIATION [OMIM:618947] synonym: "ARTHROGRYPOSIS MULTIPLEX CONGENITA 5" EXACT [OMIM:618947] xref: DOID:0080981 {source="MONDO:equivalentTo"} xref: OMIM:618947 {source="MONDO:equivalentTo"} is_a: MONDO:0015168 {source="OMIM:618947"} ! arthrogryposis multiplex congenita property_value: exactMatch DOID:0080981 property_value: exactMatch https://omim.org/entry/618947 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100219 name: growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant synonym: "GHISID2" EXACT ABBREVIATION [OMIM:618985] synonym: "GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT" EXACT [OMIM:618985] synonym: "growth hormone insensitivity with immune dysregulation 2, autosomal dominant" EXACT [OMIM:618985, OMIM:genemap2] xref: DOID:0080837 {source="MONDO:equivalentTo"} xref: OMIM:618985 {source="MONDO:equivalentTo"} is_a: MONDO:0100210 {source="OMIM:618985"} ! growth hormone insensitivity syndrome with immune dysregulation property_value: exactMatch DOID:0080837 property_value: exactMatch https://omim.org/entry/618985 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0100220 name: Rajab interstitial lung disease with brain calcifications 2 synonym: "RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2" EXACT [OMIM:619013] synonym: "RILDBC2" EXACT ABBREVIATION [OMIM:619013] xref: OMIM:619013 {source="MONDO:equivalentTo"} is_a: MONDO:0100214 {source="OMIM:619013"} ! Rajab interstitial lung disease with brain calcifications property_value: exactMatch https://omim.org/entry/619013 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100221 name: IFAP syndrome 2 synonym: "ichthyosis , follicular, with atrichia and photophobia syndrome 2" EXACT [OMIM:619016, OMIM:genemap2] synonym: "ichthyosis follicularis, atrichia, and photophobia syndrome 2" EXACT [OMIM:619016] synonym: "IFAP SYNDROME 2" EXACT [OMIM:619016] synonym: "IFAP2" EXACT ABBREVIATION [OMIM:619016] xref: OMIM:619016 {source="MONDO:equivalentTo"} is_a: MONDO:0100212 {source="OMIM:619016"} ! IFAP syndrome property_value: exactMatch https://omim.org/entry/619016 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0100223 name: mitochondrial complex I deficiency, nuclear type comment: Editor note: We split out the nuclear type subclass, as OMIMPS:252010 refers to nuclear only. See https://github.com/monarch-initiative/mondo/issues/1042 xref: DOID:0112065 {source="MONDO:equivalentTo"} xref: OMIMPS:252010 {source="MONDO:equivalentTo"} is_a: MONDO:0100133 {xref="https://orcid.org/0000-0001-5208-3432", source="OMIMPS:252010", source="https://github.com/monarch-initiative/mondo/issues/1042"} ! mitochondrial complex I deficiency property_value: exactMatch DOID:0112065 property_value: exactMatch https://omim.org/phenotypicSeries/PS252010 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100225 name: collagen 6-related myopathy def: "A qualitative or quantitative defect of collagen 6 disorder that covers a wide spectrum of musculoskeletal phenotypes caused by dominant and recessive mutations in the three major collagen VI genes: COL6A1, COL6A2, and COL6A3. These variants lead to a variety of overlapping phenotypes, ranging from severe congenital muscle weakness, hypotonia, torticollis and contractures with loss or non-development of ambulation on one end and childhood to adult onset mild muscle weakness, stiffness, and joint hyperlaxity on the other." [https://clinicalgenome.org/affiliation/40031/, PMID:21691338] synonym: "collagen 6-related myopathy" EXACT [] synonym: "collagen VI-related muscle disorder" EXACT [PMID:21691338] synonym: "collagen VI-related muscular dystrophy" EXACT [PMID:21691338] synonym: "collagen VI-related myopathy" EXACT [PMID:21691338] is_a: EFO:0004145 {source="https://orcid.org/0000-0001-5208-3432"} ! myopathy is_a: MONDO:0016139 ! qualitative or quantitative protein defects in neuromuscular diseases property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2214 xsd:anyURI [Term] id: MONDO:0100227 name: ALS2-related motor neuron disease def: "Any motor neuron disease in which the cause of the disease is a mutation in the ALS2 gene." [https://orcid.org/0000-0002-7437-8060, PMID:35053075] synonym: "Alsin-related motor neuron disease" EXACT [https://orcid.org/0000-0002-7437-8060, PMID:35053075] is_a: MONDO:0024257 {source="PMID:35053075", source="https://orcid.org/0000-0002-7437-8060"} ! hereditary motor neuron disease property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5830 xsd:anyURI [Term] id: MONDO:0100228 name: LAMA2-related muscular dystrophy def: "Any muscular dystrophy in which the cause of the disease is a mutation in the LAMA2 gene." [https://clinicalgenome.org/affiliation/40031/, PMID:30055037] synonym: "LAMA2-related muscular dystrophy" EXACT [] is_a: MONDO:0016149 {source="PMID:30055037", source="https://clinicalgenome.org/affiliation/40031/"} ! qualitative or quantitative defects of merosin is_a: MONDO:0020121 ! muscular dystrophy property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100229 name: obsolete Heimler syndrome def: "OBSOLETE. A peroxisoome biogenesis disorder characterized by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, nail abnormalities and occasional or late-onset retinal pigmentation abnormalities, in which the cause of the disease is a mutation in peroxisomal biogenesis factor 1 (PEX1) or peroxisomal biogenesis factor 6 (PEX6) genes." [MONDO:patterns/disease_series_by_gene, PMID:26387595] subset: ordo_malformation_syndrome {source="Orphanet:3220"} synonym: "bilateral sensorineural hearing loss, enamel hypoplasia and nail defects" RELATED [GARD:0001687] synonym: "deafness enamel hypoplasia nail defects" RELATED [GARD:0001687] synonym: "deafness-enamel hypoplasia-nail defects syndrome" EXACT [MONDO:0009325] synonym: "Heimler syndrome" EXACT [Orphanet:3220] synonym: "sensorineural hearing loss, enamel hypoplasia, and nail abnormalities" RELATED [GARD:0001687] xref: MESH:C535994 {source="MONDO:obsoleteEquivalent", source="Orphanet:3220/e", source="Orphanet:3220"} xref: Orphanet:3220 {source="OMIM:234580", source="MONDO:obsoleteEquivalent"} xref: SCTID:721085000 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C1856186 {source="MONDO:obsoleteEquivalent"} property_value: exactMatch http://identifiers.org/mesh/C535994 property_value: exactMatch http://identifiers.org/snomedct/721085000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856186 property_value: exactMatch Orphanet:3220 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3222 xsd:anyURI is_obsolete: true consider: MONDO:0100259 [Term] id: MONDO:0100232 name: psoriatic arthritis, susceptibility to def: "An inherited susceptibility or predisposition to developing psoriatic arthritis." [MONDO:patterns/inherited_susceptibility] synonym: "psoriatic arthritis, susceptibility" EXACT [MONDO:patterns/inherited_susceptibility] synonym: "psoriatic arthritis, susceptibility to" EXACT [MONDO:patterns/inherited_susceptibility] xref: OMIM:607507 {source="MONDO:equivalentTo"} is_a: MONDO:0020573 ! inherited disease susceptibility intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: predisposes_towards EFO:0003778 ! psoriatic arthritis relationship: predisposes_towards EFO:0003778 ! psoriatic arthritis property_value: exactMatch https://omim.org/entry/607507 [Term] id: MONDO:0100234 name: paroxysmal familial ventricular fibrillation def: "A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence." [Orphanet:228140] synonym: "idiopathic ventricular fibrillation" EXACT [GARD:0004227] synonym: "idiopathic ventricular fibrillation, non Brugada type" EXACT [Orphanet:228140] synonym: "IVF" EXACT ABBREVIATION [GARD:0004227] synonym: "paroxysmal familial ventricular fibrillation" EXACT [GARD:0004227] synonym: "paroxysmal familial ventricular fibrillation (disorder)" EXACT [] synonym: "paroxysmal ventricular fibrillation" EXACT [GARD:0004227] synonym: "ventricular fibrillation, paroxysmal familial" EXACT [GARD:0004227] xref: Orphanet:228140 {source="MONDO:equivalentTo", source="OMIM:603829"} is_a: EFO:0004287 {source="https://orcid.org/0000-0001-5208-3432"} ! ventricular fibrillation property_value: exactMatch Orphanet:228140 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2524 xsd:anyURI [Term] id: MONDO:0100236 name: LTBP2-related ocular dysgenesis def: "Any ocular dysgenesis disorder in which the cause of the disease is a mutation in the LTBP2 gene." [https://clinicalgenome.org/affiliation/40077/] comment: The ClinGen Glaucoma and Neuro-Ophthalmology Gene Curation Expert Panel decided to lump the three disease entities reported in relation to LTBP2 into LTBP2-related ocular dysgenesis based on similar inheritance patterns and molecular mechanism is_a: EFO:0003966 {source="https://clinicalgenome.org/affiliation/40077/"} ! eye disease property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5787 xsd:anyURI [Term] id: MONDO:0100237 name: inherited cutis laxa def: "An instance of cutis laxa that is inherited." [MONDO:patterns/hereditary] synonym: "hereditary cutis laxa" EXACT [MONDO:patterns/hereditary] xref: OMIMPS:123700 {source="MONDO:cjm", source="MONDO:equivalentTo"} is_a: MONDO:0016175 {source="OMIMPS:123700"} ! cutis laxa is_a: MONDO:0100118 ! hereditary skin disorder intersection_of: MONDO:0016175 ! cutis laxa intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch https://omim.org/phenotypicSeries/PS123700 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100238 name: inherited Fanconi renotubular syndrome def: "An instance of Fanconi renotubular syndrome that is inherited." [MONDO:patterns/hereditary] synonym: "hereditary Fanconi renotubular syndrome" EXACT [MONDO:patterns/hereditary] xref: OMIMPS:134600 {source="MONDO:equivalentTo"} is_a: MONDO:0001083 {source="OMIMPS:134600"} ! Fanconi renotubular syndrome is_a: MONDO:0015962 ! inherited renal tubular disease property_value: exactMatch https://omim.org/phenotypicSeries/PS134600 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100239 name: inherited hypertrophic pyloric stenosis def: "An instance of hypertrophic pyloric stenosis that is inherited." [MONDO:patterns/hereditary] synonym: "hereditary hypertrophic pyloric stenosis" EXACT [MONDO:patterns/hereditary] xref: OMIMPS:179010 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: EFO:0004707 {source="OMIMPS:179010"} ! infantile hypertrophic pyloric stenosis property_value: exactMatch https://omim.org/phenotypicSeries/PS179010 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100240 name: inherited thrombophilia def: "An instance of thrombophilia that is inherited." [MONDO:patterns/hereditary] synonym: "hereditary hypercoagulable disorder" EXACT [SCTID:439698008] synonym: "hereditary thrombophilia" EXACT [MONDO:patterns/hereditary, SCTID:439698008] synonym: "thrombophilia, hereditary" EXACT [MESH:C540694, UMLS:C2584620] xref: OMIMPS:188050 {source="MONDO:cjm", source="MONDO:equivalentTo"} is_a: EFO:0009315 {source="OMIMPS:188050"} ! thrombophilia is_a: MONDO:0021181 ! inherited blood coagulation disorder property_value: exactMatch https://omim.org/phenotypicSeries/PS188050 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100241 name: inherited thrombocytopenia def: "An instance of thrombocytopenia that is inherited." [MONDO:patterns/hereditary] synonym: "hereditary thrombocytopenia" EXACT [MONDO:patterns/hereditary] xref: OMIMPS:313900 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0002245 ! blood platelet disease property_value: exactMatch https://omim.org/phenotypicSeries/PS313900 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100242 name: glioma susceptibility def: "An inherited susceptibility or predisposition to developing glioma." [OMIMPS:137800] synonym: "glioma, susceptibility" EXACT [OMIMPS:137800] synonym: "glioma, susceptibility to" EXACT [OMIMPS:137800] xref: OMIMPS:137800 {source="MONDO:equivalentTo"} is_a: MONDO:0020573 {source="OMIMPS:137800"} ! inherited disease susceptibility intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: predisposes_towards MONDO:0100342 ! malignant glioma relationship: predisposes_towards MONDO:0100342 ! malignant glioma property_value: exactMatch https://omim.org/phenotypicSeries/PS137800 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100244 name: paroxysmal nocturnal hemoglobinuria def: "Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events." [Orphanet:447] subset: gard_rare {source="GARD:0007337"} subset: ordo_disease {source="Orphanet:447"} synonym: "acquired paroxysmal nocturnal hemoglobinuria" EXACT [MONDO:0100245] synonym: "hereditary paroxysmal nocturnal hemoglobinuria" EXACT [MONDO:patterns/hereditary] synonym: "inherited paroxysmal nocturnal hemoglobinuria" EXACT [MONDO:0100243] synonym: "Marchiafava-Micheli disease" EXACT [Orphanet:447] synonym: "paroxysmal hemoglobinuria" EXACT [NCIT:C61233] synonym: "PNH" EXACT ABBREVIATION [Orphanet:447] xref: DOID:0060284 {source="MONDO:equivalentTo"} xref: HGNC:8957 {source="GARD:0007337"} xref: HP:0004818 {source="MONDO:otherHierarchy", source="DOID:0060284"} xref: MedDRA:10034042 {source="Orphanet:447", source="Orphanet:447/e"} xref: NCIT:C61233 {source="MONDO:equivalentTo", source="DOID:0060284"} xref: OMIMPS:300818 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:447 {source="MONDO:equivalentTo", source="DOID:0060284"} xref: SCTID:127057004 {source="MONDO:relatedTo", source="DOID:0060284"} xref: SCTID:1963002 {source="MONDO:equivalentTo", source="DOID:0060284"} xref: UMLS:C0024790 {source="Orphanet:447", source="MONDO:equivalentTo", source="Orphanet:447/e", source="NCIT:C61233", source="DOID:0060284"} is_a: EFO:1000639 ! acquired metabolic disease is_a: MONDO:0003656 {source="DOID:0060284", source="OMIMPS:300818"} ! hemoglobinuria is_a: MONDO:0004139 ! normocytic anemia is_a: MONDO:0015909 ! aplastic anemia is_a: MONDO:0024321 {source="MONDO:cjm", source="https://github.com/monarch-initiative/mondo/issues/134"} ! disorder of GPI anchor biosynthesis relationship: has_characteristic MONDO:0021141 ! acquired property_value: closeMatch http://identifiers.org/meddra/10034042 property_value: exactMatch DOID:0060284 property_value: exactMatch http://identifiers.org/snomedct/1963002 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024790 property_value: exactMatch https://omim.org/phenotypicSeries/PS300818 property_value: exactMatch NCIT:C61233 property_value: exactMatch Orphanet:447 property_value: excluded_subClassOf MONDO:0017748 {source="Orphanet:447", source="https://github.com/monarch-initiative/mondo/issues/134"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4232 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7337/paroxysmal-nocturnal-hemoglobinuria xsd:anyURI {source="GARD:0007337"} [Term] id: MONDO:0100245 name: obsolete acquired paroxysmal nocturnal hemoglobinuria property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4232 xsd:anyURI is_obsolete: true replaced_by: MONDO:0100244 [Term] id: MONDO:0100246 name: migraine with or without aura, susceptibility to def: "An inherited susceptibility or predisposition to developing migraines with or without aura." [MONDO:patterns/inherited_susceptibility] synonym: "migraine with or without aura, susceptibility" EXACT [MONDO:patterns/inherited_susceptibility] synonym: "migraine with or without aura, susceptibility to" EXACT [MONDO:patterns/inherited_susceptibility] xref: OMIMPS:157300 {source="MONDO:equivalentTo"} is_a: MONDO:0020573 {source="OMIMPS:157300"} ! inherited disease susceptibility property_value: exactMatch https://omim.org/phenotypicSeries/PS157300 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100247 name: multiple congenital anomalies-hypotonia-seizures syndrome xref: DOID:0080503 {source="MONDO:equivalentTo"} xref: OMIMPS:614080 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0015159 {source="OMIMPS:614080"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability property_value: exactMatch DOID:0080503 property_value: exactMatch https://omim.org/phenotypicSeries/PS614080 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100249 name: 46,XX testicular disorder of sex development def: "46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency." [Orphanet:393] subset: ordo_malformation_syndrome {source="Orphanet:393"} synonym: "46, XX gonadal sex reversal" RELATED [GARD:0000399] synonym: "46,XX testicular differences of sex development" EXACT [NCIT:C127170] synonym: "46,XX testicular disorder of sex development" EXACT [OMIM:400045] synonym: "46,XX testicular disorders of Sex development" EXACT [NCIT:C127170] synonym: "46,XX testicular DSD" EXACT [Orphanet:393] synonym: "De la Chapelle syndrome" EXACT [Orphanet:393] synonym: "XX male syndrome" RELATED [GARD:0000399] synonym: "XX Male, Sry-positive" RELATED [OMIM:400045] synonym: "XX sex reversal" RELATED [GARD:0000399] synonym: "XX, male syndrome" EXACT [Orphanet:393] xref: DOID:0111760 {source="MONDO:equivalentTo"} xref: MESH:D058531 {source="MONDO:equivalentTo", source="Orphanet:393", source="Orphanet:393/e"} xref: NCIT:C127170 {source="MONDO:equivalentTo"} xref: Orphanet:393 {source="OMIM:400045", source="MONDO:equivalentTo"} xref: UMLS:C2748895 {source="OMIM:400045", source="MONDO:ncbi_mim2gene_medline", source="MONDO:directSiblingOf"} xref: UMLS:C2936419 {source="MONDO:equivalentTo", source="Orphanet:393", source="NCIT:C127170", source="Orphanet:393/e"} xref: UMLS:CN205000 {source="MONDO:equivalentTo"} is_a: MONDO:0017576 {source="PMID:31998049"} ! 46,XX disorder of sex development relationship: has_characteristic MONDO:0021136 ! rare property_value: exactMatch DOID:0111760 property_value: exactMatch http://identifiers.org/mesh/D058531 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2936419 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205000 property_value: exactMatch NCIT:C127170 property_value: exactMatch Orphanet:393 property_value: excluded_subClassOf MONDO:0009299 {source="DC-OMIM:400045", source="OMIM:400045"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100253 name: Roberts-SC phocomelia syndrome def: "A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities." [NCIT:C4681, PMID:18411254] synonym: "long bone deficiencies associated with cleft lip-palate" EXACT [OMIM:268300] synonym: "phocomelia-pseudothalidomide syndrome" EXACT [NCIT:C4681] synonym: "pseudothalidomide syndrome" RELATED [NCIT:C4681] synonym: "RBS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:268300] synonym: "Roberts-SC phocomelia syndrome" EXACT [NCIT:C4681] xref: NCIT:C4681 {source="MONDO:equivalentTo"} xref: OMIM:268300 {source="Orphanet:3103", source="MONDO:equivalentTo", source="Orphanet:3103/e"} is_a: EFO:1000017 {source="DOID:5325", source="MONDO:Redundant", source="OMIM:268300"} ! autosomal recessive disease is_a: MONDO:0002254 {source="NCIT:C126326"} ! syndromic disease is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect property_value: exactMatch https://omim.org/entry/268300 property_value: exactMatch NCIT:C4681 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2553 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0100254 name: CACNA1A-related complex neurodevelopmental disorder def: "A progressive complex neurodevelopmental condition caused by variants in the CACNA1A gene. Phenotypic onset (usually) occurs around age 1 and most often includes intellectual disability but can also include epileptic encephalopathy, benign paroxysmal torticollis of infancy and paroxysmal tonic upgaze psychomotor delay, learning difficulties, absence epilepsy, episodic ataxia, and hemiplegic migraines." [https://clinicalgenome.org/affiliation/40006/] is_a: MONDO:0100516 {source="https://clinicalgenome.org/affiliation/40006/"} ! complex neurodevelopmental disorder with motor features property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5753 xsd:anyURI [Term] id: MONDO:0100255 name: adenosine kinase deficiency def: "A rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement." [https://www.clinicalgenome.org/affiliation/40011/, PMID:30477030, PMID:33309011] subset: ordo_disease {source="Orphanet:289290"} synonym: "adenosine kinase deficiency" EXACT [https://www.clinicalgenome.org/affiliation/40011/] synonym: "ADK deficiency" EXACT [https://www.clinicalgenome.org/affiliation/40011/, PMID:30477030, PMID:33309011] synonym: "ADK hypermethioninemia" EXACT [DOID:0111038, Orphanet:289290] synonym: "autosomal recessive intellectual disability 8" EXACT [DOID:0111038] synonym: "autosomal recessive mental retardation 8" EXACT DEPRECATED [DOID:0111038] synonym: "hypermethioninemia due to adenosine kinase deficiency" EXACT [OMIM:614300] synonym: "hypermethioninemia encephalopathy due to adenosine kinase deficiency" EXACT [DOID:0111038] synonym: "hypermethioninemia encephalopathy due to ADK deficiency" EXACT [DOID:0111038, Orphanet:289290] synonym: "mental retardation, autosomal recessive 8" RELATED DEPRECATED [MONDO:Lexical, OMIM:611094] synonym: "mental retardation, autosomal recessive 8, formerly" RELATED DEPRECATED [OMIM:614300] synonym: "mental retardation, autosomal recessive 8; MRT8" RELATED DEPRECATED [OMIM:611094] synonym: "MRT8" EXACT DEPRECATED [DOID:0111038, MONDO:Lexical, OMIM:611094] xref: DOID:0111038 {source="MONDO:equivalentTo"} xref: MESH:C567015 {source="MONDO:equivalentTo"} xref: OMIM:611094 {source="MONDO:equivalentObsolete"} xref: OMIM:614300 {source="MONDO:equivalentTo", source="Orphanet:289290", source="DOID:0111038", source="Orphanet:289290/e"} xref: Orphanet:289290 {source="OMIM:614300", source="MONDO:equivalentTo", source="DOID:0111038"} xref: UMLS:C1970196 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:611094"} xref: UMLS:C3280381 {source="OMIM:614300", source="MONDO:equivalentObsolete", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000351 {source="DC-OMIM:614300", source="DOID:0111038", source="PMID:30477030", source="PMID:33309011", source="https://www.clinicalgenome.org/affiliation/40011/"} ! disorder of methionine catabolism is_a: MONDO:0019502 {source="DC-OMIM:611094", source="PMID:30477030", source="PMID:33309011", source="https://www.clinicalgenome.org/affiliation/40011/"} ! autosomal recessive non-syndromic intellectual disability property_value: exactMatch DOID:0111038 property_value: exactMatch http://identifiers.org/mesh/C567015 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970196 property_value: exactMatch https://omim.org/entry/614300 property_value: exactMatch Orphanet:289290 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2587 xsd:anyURI [Term] id: MONDO:0100257 name: peroxisomal single enzyme/protein defect def: "Any peroxisomal disease in which the cause of the disease is a defect in a single enyme or protein." [https://www.clinicalgenome.org/affiliation/40049/] synonym: "peroxisomal single enzyme/protein defect" EXACT [https://www.clinicalgenome.org/affiliation/40049/] is_a: MONDO:0019053 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisomal disease property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100258 name: phytanoyl-CoA hydroxylase deficiency def: "Any disorder of peroxisomal alpha oxidation in which the cause of the disease is a mutation in the PHYH gene." [MONDO:patterns/disease_series_by_gene] synonym: "PHYH deficiency" EXACT [https://www.clinicalgenome.org/affiliation/40049/] synonym: "PHYH related disorder of peroxisomal alpha oxidation" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "phytanoyl-CoA hydroxylase deficiency" EXACT [https://www.clinicalgenome.org/affiliation/40049/] is_a: MONDO:0100277 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of peroxisomal alpha oxidation property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100259 name: peroxisome biogenesis disorder due to PEX1 defect def: "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene." [MONDO:patterns/disease_series_by_gene] subset: disease_grouping synonym: "peroxisome biogenesis disorder due to PEX1 defect" EXACT [https://www.clinicalgenome.org/affiliation/40049/] synonym: "PEX1 related Zellweger spectrum disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene] is_a: MONDO:0019609 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Zellweger spectrum disorders property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0100260 name: peroxisome biogenesis disorder due to PEX2 defect def: "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX2 gene." [MONDO:patterns/disease_series_by_gene] subset: disease_grouping synonym: "peroxisome biogenesis disorder due to PEX2 defect" EXACT [https://www.clinicalgenome.org/affiliation/40049/] synonym: "PEX2 related Zellweger spectrum disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene] is_a: MONDO:0019609 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Zellweger spectrum disorders property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0100261 name: peroxisome biogenesis disorder due to PEX3 defect def: "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX3 gene." [MONDO:patterns/disease_series_by_gene] subset: disease_grouping synonym: "peroxisome biogenesis disorder due to PEX3 defect" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene] synonym: "PEX3 related Zellweger spectrum disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene] is_a: MONDO:0019609 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Zellweger spectrum disorders property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0100262 name: peroxisome biogenesis disorder due to PEX5 defect def: "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX5 gene." [MONDO:patterns/disease_series_by_gene] subset: disease_grouping synonym: "peroxisome biogenesis disorder due to PEX5 defect" EXACT [https://www.clinicalgenome.org/affiliation/40049/] synonym: "PEX5 related Zellweger spectrum disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene] is_a: MONDO:0019609 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Zellweger spectrum disorders property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0100263 name: peroxisome biogenesis disorder due to PEX6 defect def: "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX6 gene." [MONDO:patterns/disease_series_by_gene] subset: disease_grouping synonym: "peroxisome biogenesis disorder due to PEX6 defect" EXACT [https://www.clinicalgenome.org/affiliation/40049/] synonym: "PEX6 related Zellweger spectrum disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene] is_a: MONDO:0019609 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Zellweger spectrum disorders property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0100264 name: peroxisome biogenesis disorder due to PEX10 defect def: "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX10 gene." [MONDO:patterns/disease_series_by_gene] subset: disease_grouping synonym: "peroxisome biogenesis disorder due to PEX10 defect" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene] synonym: "PEX10 related Zellweger spectrum disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene] is_a: MONDO:0019609 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Zellweger spectrum disorders property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0100265 name: peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain def: "Any peroxisome biogenesis disorder due to PEX5 in which the cause of the disease is a mutation in the PEX7-binding domain of the PEX5 gene." [MONDO:patterns/disease_series_by_gene] synonym: "peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain" EXACT [https://www.clinicalgenome.org/affiliation/40049/] is_a: MONDO:0004884 ! eye degenerative disorder is_a: MONDO:0015776 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! rhizomelic chondrodysplasia punctata is_a: MONDO:0015905 ! syndromic dyslipidemia is_a: MONDO:0100322 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! non-Zellweger spectrum disorder property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0100266 name: peroxisome biogenesis disorder due to PEX12 defect def: "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX12 gene." [MONDO:patterns/disease_series_by_gene] subset: disease_grouping synonym: "peroxisome biogenesis disorder due to PEX12 defect" EXACT [https://www.clinicalgenome.org/affiliation/40049/] synonym: "PEX12 related Zellweger spectrum disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene] is_a: MONDO:0019609 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Zellweger spectrum disorders property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0100267 name: peroxisome biogenesis disorder due to PEX13 defect def: "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX13 gene." [MONDO:patterns/disease_series_by_gene] subset: disease_grouping synonym: "peroxisome biogenesis disorder due to PEX13 defect" EXACT [https://www.clinicalgenome.org/affiliation/40049/] synonym: "PEX13 related Zellweger spectrum disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene] is_a: MONDO:0019609 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Zellweger spectrum disorders property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0100268 name: peroxisome biogenesis disorder due to PEX14 defect def: "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX14 gene." [MONDO:patterns/disease_series_by_gene] subset: disease_grouping synonym: "peroxisome biogenesis disorder due to PEX14 defect" EXACT [https://www.clinicalgenome.org/affiliation/40049/] synonym: "PEX14 related Zellweger spectrum disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene] is_a: MONDO:0019609 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Zellweger spectrum disorders property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0100269 name: peroxisome biogenesis disorder due to PEX16 defect def: "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX16 gene." [MONDO:patterns/disease_series_by_gene] subset: disease_grouping synonym: "peroxisome biogenesis disorder due to PEX16 defect" EXACT [https://www.clinicalgenome.org/affiliation/40049/] synonym: "PEX16 related Zellweger spectrum disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene] is_a: MONDO:0019609 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Zellweger spectrum disorders property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0100270 name: peroxisome biogenesis disorder due to PEX19 defect def: "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX19 gene." [MONDO:patterns/disease_series_by_gene] subset: disease_grouping synonym: "peroxisome biogenesis disorder due to PEX19 defect" EXACT [https://www.clinicalgenome.org/affiliation/40049/] synonym: "PEX19 related Zellweger spectrum disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene] is_a: MONDO:0019609 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Zellweger spectrum disorders property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0100271 name: peroxisome biogenesis disorder due to PEX26 defect def: "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX26 gene." [MONDO:patterns/disease_series_by_gene] subset: disease_grouping synonym: "peroxisome biogenesis disorder due to PEX26 defect" EXACT [https://www.clinicalgenome.org/affiliation/40049/] synonym: "PEX26 related Zellweger spectrum disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene] is_a: MONDO:0019609 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Zellweger spectrum disorders property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0100272 name: peroxisome biogenesis disorder due to PEX7 defect def: "Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX7 gene." [MONDO:patterns/disease_series_by_gene] synonym: "adult refsum disease due to PEX7 defect (formerly)" NARROW [https://www.clinicalgenome.org/affiliation/40049/] synonym: "PEX7 related peroxisome biogenesis disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene] synonym: "rhizomelic chondrodysplasia punctata type 1 (formerly)" NARROW [https://www.clinicalgenome.org/affiliation/40049/] is_a: MONDO:0100322 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! non-Zellweger spectrum disorder property_value: excluded_subClassOf MONDO:0019234 {source="https://www.clinicalgenome.org/affiliation/40049/"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0100273 name: glyceronephosphate O-acyltransferase deficiency def: "Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the GNPAT gene." [MONDO:patterns/disease_series_by_gene] synonym: "glyceronephosphate O-acyltransferase deficiency" EXACT [https://www.clinicalgenome.org/affiliation/40049/] synonym: "GNPAT deficiency" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene] is_a: MONDO:0017986 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of plasmalogens biosynthesis property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0100274 name: alkylglycerone-phosphate synthase deficiency def: "Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGPS gene." [MONDO:patterns/disease_series_by_gene] synonym: "AGPS deficiency" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene] synonym: "alkylglycerone-phosphate synthase deficiency" EXACT [https://www.clinicalgenome.org/affiliation/40049/] is_a: MONDO:0017986 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of plasmalogens biosynthesis property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0100275 name: fatty acyl-CoA reductase defects def: "Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the FAR1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "FAR1 defect" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene] synonym: "fatty acyl-CoA reductase defects" EXACT [https://www.clinicalgenome.org/affiliation/40049/] is_a: MONDO:0017986 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of plasmalogens biosynthesis property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100276 name: disorder of defective peroxisomal and mitochondrial fission def: "A disease that has its basis in the disruption of peroxisome and mitochondrial fission." [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/basis_in_disruption_of_process] synonym: "disorder of defective peroxisomal and mitochondrial fission" EXACT [https://www.clinicalgenome.org/affiliation/40049/] synonym: "peroxisome and mitochronrial fission disease" EXACT [MONDO:patterns/basis_in_disruption_of_process] is_a: MONDO:0019053 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisomal disease property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0100277 name: disorder of peroxisomal alpha oxidation def: "Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisomal alpha oxidatiion." [MONDO:patterns/disrupts_process] subset: disease_grouping synonym: "disorder of peroxisomal alpha oxidation" EXACT [https://www.clinicalgenome.org/affiliation/40049/] is_a: MONDO:0100257 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisomal single enzyme/protein defect property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100278 name: alanine glyoxylate aminotransferase deficiency def: "Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGXT gene." [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/basis_in_disruption_of_process, PMID:16756494] synonym: "AGXT defect" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "AGXT deficiency" EXACT [https://www.clinicalgenome.org/affiliation/40049/] synonym: "alanine glyoxylate aminotransferase deficiency" EXACT [https://www.clinicalgenome.org/affiliation/40049/] is_a: MONDO:0017703 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of glyoxylate metabolism property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100279 name: peroxisome biogenesis disorder due to PEX11B defect def: "Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX11B gene." [MONDO:patterns/disease_series_by_gene] subset: disease_grouping synonym: "peroxisome biogenesis disorder due to PEX11B defect" EXACT [https://www.clinicalgenome.org/affiliation/40049/] synonym: "PEX11B related peroxisome biogenesis disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene] is_a: MONDO:0019609 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Zellweger spectrum disorders property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0100283 name: overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes def: "A disease caused by mosaic gain-of-function (GoF) of several genes in the MTOR pathway (MTOR, PIK3CA, PIK3R2 and AKT3) are functionally the same despite significant phenotypic variability. These GoF variants result in overgrowth due to an over-activation of key genes in this pathway. The phenotypic variability is generally attributed to the mosaic fraction and affected tissue types. For example, macrocephaly is noted if the variant is identified in the brain, but non symmetric overgrowth of that limb is noted when the variant is only present in the affected limb. The pathologies of the affected tissue often reveal similar characteristics such as cellular overgrowth. However, this is not always the case especially with focal cortical dysplasia. At times the characteristics pathologies are not present in the tissue but sampling biases are an issue. FCD resections often involve a very small area and so a very small amount of tissue is available for pathology and it is not guaranteed that lesional tissue is sent. Therefore, having a single disease term which can encompass the phenotypic variability yet provide a unifying molecular diagnosis name makes sense given the common functional mechanism." [https://clinicalgenome.org/affiliation/40020/, PMID:22729223, PMID:27860216, PMID:30349109] synonym: "overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes" EXACT [] is_a: MONDO:0015330 {source="https://clinicalgenome.org/affiliation/40020/", source="https://github.com/monarch-initiative/mondo/issues/2547"} ! overgrowth/obesity syndrome is_a: MONDO:0020022 {source="https://clinicalgenome.org/affiliation/40020/", source="https://github.com/monarch-initiative/mondo/issues/2547"} ! central nervous system malformation property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100284 name: X-linked intellectual disability def: "An X-linked intellectual deficiency in which not enough information is known, reported or published to indicate whether a gene causes non-syndromic or syndromic presentations." [https://clinicalgenome.org/affiliation/40006/] synonym: "X-linked intellectual disability" EXACT [] is_a: EFO:0005548 ! developmental disorder of mental health is_a: MONDO:0000425 ! X-linked disease property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2670 xsd:anyURI [Term] id: MONDO:0100289 name: Goldmann-Favre syndrome def: "A vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis)." [Orphanet:53540] subset: ordo_disease {source="Orphanet:53540"} synonym: "Favre hyaloideoretinal Degeneration" RELATED [OMIM:268100] synonym: "retinoschisis with early nyctalopia" EXACT [Orphanet:53540] xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:53540/attributed", source="Orphanet:53540/ntbt", source="Orphanet:53540"} xref: Orphanet:53540 {source="OMIM:268100", source="MONDO:equivalentTo"} xref: SCTID:232065000 {source="MONDO:equivalentTo"} is_a: MONDO:0020248 {source="Orphanet:53540"} ! vitreoretinal degeneration property_value: exactMatch http://identifiers.org/snomedct/232065000 property_value: exactMatch Orphanet:53540 property_value: excluded_subClassOf MONDO:0020244 {source="Orphanet:53540"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100294 name: mitochondrial complex II deficiency, nuclear type 1 def: "Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Complex II deficiency can be caused by mutations in the SDHA, SDHB, SDHD, or SDHAF1 genes. In many cases the underlying gene mutations cannot be identified. Complex II deficiency is inherited in an autosomal recessive fashion. Complex II deficiency gene mutation carriers may be at an increased risk for certain cancers." [https://rarediseases.info.nih.gov/diseases/5053/mitochondrial-complex-ii-deficiency] subset: gard_rare {source="GARD:0005053"} subset: ordo_disease {source="Orphanet:3208"} synonym: "complex 2 mitochondrial respiratory chain deficiency" RELATED [GARD:0005053] synonym: "isolated mitochondrial respiratory chain complex II deficiency" EXACT [DOID:0060537, Orphanet:3208] synonym: "isolated succinate-coenzyme Q reductase deficiency" EXACT [DOID:0060537, Orphanet:3208] synonym: "isolated succinate-CoQ reductase deficiency" EXACT [DOID:0060537] synonym: "isolated succinate-ubiquinone reductase deficiency" EXACT [DOID:0060537, Orphanet:3208] synonym: "mitochondrial complex 2 deficiency" RELATED [OMIM:252011] synonym: "mitochondrial complex II deficiency" EXACT [OMIM:252011] synonym: "mitochondrial complex II deficiency, nuclear type 1" EXACT [] synonym: "mitochondrial respiratory chain complex II deficiency" RELATED [GARD:0005053] synonym: "succinate CoQ reductase deficiency" RELATED [OMIM:252011] synonym: "succinate dehydrogenase deficiency" RELATED [GARD:0005053] xref: DOID:0060537 {source="MONDO:equivalentTo"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C565375 {source="MONDO:equivalentTo", source="DOID:0060537"} xref: OMIM:252011 {source="MONDO:equivalentTo", source="Orphanet:3208", source="DOID:0060537", source="Orphanet:3208/e"} xref: Orphanet:3208 {source="MONDO:equivalentTo", source="OMIM:252011", source="DOID:0060537"} xref: SCTID:124165006 {source="MONDO:equivalentTo"} is_a: MONDO:0016805 {source="Orphanet:3208"} ! isolated oxidative phosphorylation complex disorder is_a: MONDO:0031230 {source="OMIM:252011"} ! mitochondrial complex II deficiency, nuclear type property_value: exactMatch DOID:0060537 property_value: exactMatch http://identifiers.org/mesh/C565375 property_value: exactMatch http://identifiers.org/snomedct/124165006 property_value: exactMatch https://omim.org/entry/252011 property_value: exactMatch Orphanet:3208 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5053/mitochondrial-complex-ii-deficiency xsd:anyURI {source="GARD:0005053"} [Term] id: MONDO:0100296 name: Olmsted syndrome 1 def: "Any Olmsted syndrome in which the cause of the disease is a variation in the TRPV3 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare subset: ordo_disease {source="Orphanet:659"} synonym: "Olmsted syndrome" BROAD [Orphanet:659] synonym: "palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 1" EXACT [MONDO:0019014, OMIM:614594] xref: DOID:0112013 {source="MONDO:equivalentTo"} xref: OMIM:614594 {source="MONDO:equivalentTo", source="Orphanet:659", source="GARD:0004075", source="Orphanet:659/btnt"} is_a: MONDO:0031421 {source="OMIM:614594"} ! Olmsted syndrome property_value: exactMatch DOID:0112013 property_value: exactMatch https://omim.org/entry/614594 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100298 name: abdominal wall malformation is_a: MONDO:0019755 {source="https://orcid.org/0000-0001-5208-3432"} ! developmental defect during embryogenesis property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5451 xsd:anyURI [Term] id: MONDO:0100306 name: disorder of defective peroxisome oxidative status def: "Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisome oxidation." [MONDO:patterns/disrupts_process] synonym: "disorder of defective peroxisome oxidative status" EXACT [https://www.clinicalgenome.org/affiliation/40049/] is_a: MONDO:0100257 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisomal single enzyme/protein defect property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0100308 name: atactic disorder def: "A central nervous system disease that consists of gait impairment, unclear (“scanning”) speech, visual blurring due to nystagmus, hand incoordination, and tremor with movement." [ISBN-13:978-1-259-64403-0] synonym: "ataxia" RELATED [PMID:32965955] synonym: "ataxic disorder" EXACT [ISBN-13:978-1-259-64403-0, PMID:32965955] is_a: EFO:0000618 {source="https://github.com/monarch-initiative/mondo/issues/3066", source="https://orcid.org/0000-0002-0736-9199"} ! nervous system disease property_value: excluded_subClassOf MONDO:0002602 {source="ISBN-13:978-1-259-64403-0"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100310 name: hereditary cerebellar ataxia def: "Cerebellar ataxia that is transmitted from parent to child." [NCIT:C140268] synonym: "cerebellar hereditary ataxia" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "hereditary cerebellar ataxia" EXACT [NCIT:C140268] xref: NCIT:C140268 {source="MONDO:equivalentTo"} is_a: EFO:0009671 ! hereditary ataxia is_a: MONDO:0000437 {source="NCIT:C140268"} ! cerebellar ataxia intersection_of: MONDO:0000437 ! cerebellar ataxia intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch NCIT:C140268 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100314 name: GYG1-related disorder of glycogen metabolism def: "Any disorder of glycogen metabolism in which the cause of disease is a mutation in the GYG1 gene." [https://clinicalgenome.org/affiliation/40097] is_a: MONDO:0002412 {source="https://clinicalgenome.org/affiliation/40097"} ! disorder of glycogen metabolism property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6130 xsd:anyURI [Term] id: MONDO:0100317 name: deficiency of adenosine deaminase 2 def: "Any disease or disorder in which the cause of the disease is a mutation in the ADA2 gene." [PMID:31945408, PMID:32638197, PMID:32845415, PMID:35095905, PMID:35774100] is_a: EFO:0000508 {source="https://clinicalgenome.org/affiliation/40080/"} ! genetic disorder property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6166 xsd:anyURI [Term] id: MONDO:0100320 name: post-COVID-19 disorder def: "A SARS-CoV-2-related disease that is caused by infection by SARS-CoV-2, and manifests after the original primary infection." [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-4142-7153, PMID:32201335] is_a: MONDO:0021674 ! post-viral disorder relationship: disease_arises_from_feature MONDO:0100096 ! COVID-19 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100322 name: non-Zellweger spectrum disorder def: "A peroxisome biogenesis disorder which is due to defect in PEX7 or PEX5. This includes rhizomelic chondrodysplasia punctata due to defect in PEX7 or PEX5, and adult Refsum Disease due to defects in PEX7." [https://clinicalgenome.org/affiliation/40049/, https://orcid.org/0000-0002-2796-282X] subset: disease_grouping synonym: "non-Zellweger spectrum disorder" EXACT [https://clinicalgenome.org/affiliation/40049/] is_a: MONDO:0019234 {source="https://clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0100323 name: inherited pseudohypoaldosteronism def: "A form of pseudohypoaldosteronism that is characterized Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology." [https://orcid.org/0000-0002-0736-9199] synonym: "hereditary pseudohypoaldosteronism" EXACT [https://orcid.org/0000-0002-0736-9199] is_a: MONDO:0018638 {source="https://orcid.org/0000-0002-0736-9199"} ! pseudohypoaldosteronism is_a: MONDO:0100191 {source="https://orcid.org/0000-0002-0736-9199"} ! inherited kidney disorder intersection_of: MONDO:0018638 ! pseudohypoaldosteronism intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100325 name: odontochondrodysplasia 1 def: "A very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta." [https://orcid.org/0000-0001-5208-3432, Orphanet:166272] subset: ordo_malformation_syndrome {source="Orphanet:166272"} synonym: "chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome" EXACT [Orphanet:166272] synonym: "Goldblatt chondrodysplasia" EXACT [Orphanet:166272] synonym: "Goldblatt syndrome" EXACT [OMIM:184260, Orphanet:166272] synonym: "ODCD" EXACT ABBREVIATION [Orphanet:166272] synonym: "odontochondrodysplasia" BROAD [OMIM:184260] synonym: "spondylometaphyseal dysplasia with dentinogenesis imperfecta" RELATED [OMIM:184260] xref: OMIM:184260 {source="Orphanet:166272/e", source="MONDO:equivalentTo", source="Orphanet:166272"} xref: Orphanet:166272 {source="MONDO:equivalentTo", source="OMIM:184260"} xref: SCTID:717823001 {source="MONDO:equivalentTo"} xref: UMLS:CN200045 {source="MONDO:equivalentTo"} is_a: MONDO:0031169 {source="OMIM:184260"} ! odontochondrodysplasia property_value: exactMatch http://identifiers.org/snomedct/717823001 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200045 property_value: exactMatch https://omim.org/entry/184260 property_value: exactMatch Orphanet:166272 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0100326 name: Glanzmann thrombasthenia synonym: "Glanzmann thrombasthenia" EXACT [] xref: OMIMPS:273800 {source="MONDO:equivalentTo"} xref: Orphanet:849 {source="MONDO:equivalentTo"} is_a: MONDO:0000009 {source="DC-OMIM:273800", source="DOID:2219", source="MONDO:0017142-obsoleted", source="MONDO:Redundant", source="OMIM:273800"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0021181 {source="MONDO:0017142-obsoleted"} ! inherited blood coagulation disorder property_value: exactMatch https://omim.org/phenotypicSeries/PS273800 property_value: exactMatch Orphanet:849 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100327 name: hypercholanemia, familial synonym: "familial hypercholanemia" EXACT [MONDO:0011905] synonym: "hypercholanemia, familial" EXACT [MONDO:Lexical, OMIM:607748] xref: OMIMPS:607748 {source="MONDO:equivalentTo"} is_a: MONDO:0019218 {source="OMIMPS:607748"} ! inborn disorder of bile acid synthesis property_value: exactMatch https://omim.org/phenotypicSeries/PS607748 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100328 name: microcephaly, epilepsy, and diabetes syndrome xref: OMIMPS:614231 {source="MONDO:equivalentTo"} is_a: EFO:0000508 {source="OMIMPS:614231"} ! genetic disorder property_value: exactMatch https://omim.org/phenotypicSeries/PS614231 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100329 name: primary viral infectious disease def: "The initial viral infectious disase that causes illness." [https://medical-dictionary.thefreedictionary.com/primary+infection] is_a: EFO:0000763 {source="https://github.com/monarch-initiative/mondo/issues/2950", source="https://orcid.org/0000-0001-5208-3432"} ! viral disease property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2950 xsd:anyURI [Term] id: MONDO:0100330 name: disease arising from reactivation of latent virus def: "An infectious disease that arises from reactivation of a virus from a latent phase to a lytic phase." [https://medical-dictionary.thefreedictionary.com/latent+infection, https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-4142-7153, PMID:21799704] synonym: "latent infection" EXACT [PMID:21799704] is_a: EFO:0000763 {source="https://github.com/monarch-initiative/mondo/issues/2950", source="https://orcid.org/0000-0001-5208-3432"} ! viral disease property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2950 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3251 xsd:anyURI [Term] id: MONDO:0100337 name: SEC61A1 deficiency def: "Any Mendelian disease in which the cause of the disease is a mutation in the SEC61A1 gene. It is characterized by variable presentation of phenotypes in patients, including autosomal dominant tubulointerstitial kidney disease, primary antibody deficiency, and severe congenital neutropenia." [https://www.clinicalgenome.org/affiliation/40080/, PMID:31488840] comment: The term autosomal dominant tubulointerstitial kidney disease (ADTKD), is recommended to be used instead of familial juvenile hyperurecemic nephropathy. subset: clingen synonym: "SEC61A1 deficiency" EXACT [] is_a: EFO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/2945", source="https://www.clinicalgenome.org/affiliation/40080/"} ! genetic disorder property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100339 name: Friedreich ataxia def: "An inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty." [GARD:0006468] subset: gard_rare {source="GARD:0006468"} subset: ordo_disease {source="Orphanet:95"} synonym: "FA" EXACT ABBREVIATION [OMIM:229300, Orphanet:95] synonym: "FRDA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:229300, Orphanet:95] synonym: "Friedreich ataxia" EXACT [MONDO:0009245] synonym: "Friedreich ataxia with retained reflexes" RELATED [OMIM:229300] synonym: "Friedreich's ataxia" EXACT [DOID:12705, ICD9CM:334.0] synonym: "Friedreich's tabes" EXACT [DOID:12705] synonym: "hereditary spinal ataxia" RELATED [GARD:0006468] synonym: "hereditary spinal sclerosis" RELATED [GARD:0006468] synonym: "spinocerebellar ataxia, Friedreich" RELATED [GARD:0006468] xref: DOID:12705 {source="MONDO:equivalentTo"} xref: ICD9:334.0 {source="MONDO:equivalentTo", source="DOID:12705", source="MONDO:i2s"} xref: MedDRA:10017374 {source="Orphanet:95/e", source="Orphanet:95"} xref: MESH:D005621 {source="Orphanet:95/e", source="MONDO:equivalentTo", source="DOID:12705", source="Orphanet:95"} xref: NCIT:C84718 {source="MONDO:equivalentTo", source="DOID:12705"} xref: SCTID:10394003 {source="MONDO:equivalentTo", source="DOID:12705"} xref: UMLS:C0016719 {source="Orphanet:95/e", source="MONDO:equivalentTo", source="DOID:12705", source="NCIT:C84718", source="Orphanet:95"} is_a: MONDO:0020046 {source="Orphanet:95"} ! autosomal recessive degenerative and progressive cerebellar ataxia property_value: closeMatch http://identifiers.org/meddra/10017374 property_value: exactMatch DOID:12705 property_value: exactMatch http://identifiers.org/mesh/D005621 property_value: exactMatch http://identifiers.org/snomedct/10394003 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016719 property_value: exactMatch NCIT:C84718 property_value: excluded_subClassOf MONDO:0005045 property_value: excluded_subClassOf MONDO:0005267 property_value: excluded_subClassOf MONDO:0015368 {source="MONDO:0020264-obsoleted"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6468/friedreich-ataxia xsd:anyURI {source="GARD:0006468"} [Term] id: MONDO:0100342 name: malignant glioma def: "A grade III or grade IV glioma arising from the central nervous system. This category includes glioblastoma, anaplastic astrocytoma, anaplastic ependymoma, anaplastic oligodendroglioma, and anaplastic oligoastrocytoma." [NCIT:C4822] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:182067"} synonym: "glial cell tumor" EXACT [DOID:3070] synonym: "glial cell tumour" EXACT OMO:0003005 [] synonym: "glioma" BROAD [Orphanet:182067] synonym: "glioma, malignant" EXACT [DOID:3070, MONDO:patterns/malignant, NCIT:C4822] synonym: "high grade glioma" EXACT [NCIT:C4822] synonym: "high-grade glioma" EXACT [NCIT:C4822] synonym: "malignant glial neoplasm" EXACT [NCIT:C4822] synonym: "malignant glial tumor" EXACT [NCIT:C4822] synonym: "malignant glial tumour" EXACT OMO:0003005 [] synonym: "malignant glioma" EXACT [NCIT:C4822] synonym: "malignant neuroglial neoplasm" EXACT [NCIT:C4822] synonym: "malignant neuroglial tumor" EXACT [DOID:3070, NCIT:C4822] synonym: "malignant neuroglial tumour" EXACT OMO:0003005 [] synonym: "neuroglial tumor" BROAD [DOID:3070, NCIT:C3059] synonym: "neuroglial tumour" BROAD OMO:0003005 [] xref: DOID:3070 {source="MONDO:equivalentTo"} xref: ICDO:9380/3 {source="NCIT:C4822"} xref: MedDRA:10018338 {source="Orphanet:182067", source="Orphanet:182067/e"} xref: NCIT:C4822 {source="MONDO:equivalentTo", source="DOID:3070"} xref: UMLS:C0555198 {source="MONDO:equivalentTo", source="DOID:3070", source="NCIT:C4822"} is_a: EFO:0000326 {source="NCIT:C4822"} ! central nervous system cancer is_a: EFO:0005543 {source="MONDO:Redundant", source="NCIT:C4822"} ! glioma is_a: MONDO:0020665 ! high grade malignant neoplasm relationship: has_characteristic MONDO:0021136 {source="MONDO:0016679"} ! rare property_value: closeMatch http://identifiers.org/meddra/10018338 property_value: exactMatch DOID:3070 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0555198 property_value: exactMatch NCIT:C4822 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100343 name: antenatal Bartter syndrome def: "A phenotypic variant of Bartter syndrome presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome." [Orphanet:93604] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: obsoletion_candidate synonym: "Bartter syndrome, furosemide type" EXACT [Orphanet:93604] synonym: "Bartter syndrome, furosemide-amiloride type" EXACT [Orphanet:93604] synonym: "hyperprostaglandin E syndrome" EXACT [Orphanet:93604] xref: Orphanet:93604 {source="MONDO:equivalentObsolete"} is_a: MONDO:0015231 {source="Orphanet:93604", source="https://github.com/monarch-initiative/mondo/issues/2935", source="https://orcid.org/0000-0001-5493-2602"} ! Bartter syndrome property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0100348 name: neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities def: "An autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. More variable features include hypotonia, early-onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy. The disease follows a neurodegenerative course in many patients; clinical features suggest involvement of both the central and peripheral nervous systems." [OMIM:619091] synonym: "NEDMILG, AR" EXACT ABBREVIATION [OMIM:619091] synonym: "neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive" EXACT [OMIM:619091, OMIM:genemap2] xref: OMIM:619091 {source="MONDO:equivalentTo"} is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0100500 ! Mendelian neurodevelopmental disorder property_value: exactMatch https://omim.org/entry/619091 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3680 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5167 xsd:anyURI [Term] id: MONDO:0100350 name: neuronopathy, distal hereditary motor, type 5 synonym: "dHMN5" BROAD [Orphanet:139536] synonym: "distal hereditary motor neuropathy type V" EXACT [Orphanet:139536] synonym: "distal HMN V" EXACT [Orphanet:139536] synonym: "distal spinal muscular atrophy type 5" EXACT [Orphanet:139536] xref: DOID:0111203 {source="MONDO:equivalentTo"} xref: MESH:C563443 {source="MONDO:equivalentTo"} xref: Orphanet:139536 {source="MONDO:equivalentTo"} is_a: MONDO:0000075 {source="https://orcid.org/0000-0001-5208-3432"} ! neuronopathy, distal hereditary motor property_value: exactMatch DOID:0111203 property_value: exactMatch http://identifiers.org/mesh/C563443 property_value: exactMatch Orphanet:139536 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100352 name: episodic kinesigenic dyskinesia 1 synonym: "dystonia 10" RELATED [OMIM:128200] synonym: "dystonia, familial paroxysmal" RELATED [OMIM:128200] synonym: "DYT-PRRT2" RELATED [GARD:0008721] synonym: "EKD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:128200] synonym: "episodic kinesigenic dyskinesia 1" EXACT [MONDO:Lexical, OMIM:128200] synonym: "episodic kinesigenic dyskinesia caused by mutation in PRRT2" EXACT [MONDO:design_pattern] synonym: "episodic kinesigenic dyskinesia type 1" EXACT [DOID:0090053, MONDORULE:1, OMIM:128200] synonym: "paroxysmal kinesigenic choreoathetosis" RELATED [OMIM:128200] synonym: "paroxysmal kinesigenic dyskinesia" RELATED [OMIM:128200] synonym: "PRRT2 episodic kinesigenic dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "PxMD-PRRT2" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/] xref: DOID:0090053 {source="MONDO:equivalentTo"} xref: ICD9:333.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537180 {source="MONDO:equivalentTo"} xref: OMIM:128200 {source="DOID:0090053", source="Orphanet:98809/e", source="MONDO:equivalentTo", source="Orphanet:98809"} xref: SCTID:609221008 {source="MONDO:equivalentTo"} is_a: MONDO:0044202 {source="MONDO:Redundant", source="OMIM:128200"} ! episodic kinesigenic dyskinesia property_value: exactMatch DOID:0090053 property_value: exactMatch http://identifiers.org/mesh/C537180 property_value: exactMatch http://identifiers.org/snomedct/609221008 property_value: exactMatch https://omim.org/entry/128200 property_value: excluded_subClassOf MONDO:0015427 {source="Orphanet:98809"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100354 name: megacystis-microcolon-intestinal hypoperistalsis syndrome 1 subset: ordo_malformation_syndrome {source="Orphanet:2241"} synonym: "Berdon syndrome" EXACT [DOID:0060610, OMIM:249210, Orphanet:2241] synonym: "megacystis microcolon intestinal hypoperistalsis syndrome" BROAD [GARD:0003442] synonym: "megacystis, microcolon, hypoperistalsis syndrome" BROAD [NCIT:C98982] synonym: "megacystis, microcolon, intestinal hypoperistalsis syndrome" BROAD [NCIT:C98982] synonym: "megacystis-microcolon-intestinal hypoperistalsis syndrome" BROAD [MONDO:0007960, OMIM:249210] synonym: "megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH" BROAD [DOID:0060610] synonym: "megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome" BROAD [Orphanet:2241] synonym: "MMIH syndrome" BROAD [NCIT:C98982] synonym: "MMIHS" BROAD ABBREVIATION [Orphanet:2241] xref: DOID:0060610 {source="MONDO:equivalentTo"} xref: MESH:C536138 {source="MONDO:equivalentTo", source="DOID:0060610"} xref: NCIT:C98982 {source="MONDO:equivalentTo"} xref: OMIM:249210 {source="Orphanet:2241/e", source="MONDO:equivalentTo", source="Orphanet:2241"} xref: Orphanet:2241 {source="OMIM:249210", source="MONDO:equivalentTo", source="DOID:0060610"} xref: SCTID:253781004 {source="MONDO:equivalentTo"} xref: UMLS:C1608393 {source="Orphanet:2241/e", source="MONDO:equivalentTo", source="DOID:0060610", source="NCIT:C98982", source="Orphanet:2241"} xref: UMLS:C1864996 {source="MONDO:relatedTo", source="OMIM:155310"} is_a: MONDO:0025986 {source="OMIM:249210"} ! megacystis-microcolon-intestinal hypoperistalsis syndrome relationship: has_characteristic MONDO:0021136 {source="MONDO:0015184"} ! rare property_value: exactMatch DOID:0060610 property_value: exactMatch http://identifiers.org/mesh/C536138 property_value: exactMatch http://identifiers.org/snomedct/253781004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1608393 property_value: exactMatch https://omim.org/entry/249210 property_value: exactMatch NCIT:C98982 property_value: exactMatch Orphanet:2241 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100355 name: classic or non-classic genetic disease presentation def: "A classic (severe) or non-classic (mild or intermediate) form of a genetic disease." [https://orcid.org/0000-0001-5208-3432, https://www.clinicalgenome.org/affiliation/40049/] is_a: EFO:0009813 {source="https://orcid.org/0000-0001-5208-3432"} ! disease characteristic property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3221 xsd:anyURI [Term] id: MONDO:0100356 name: classic presentation def: "A severe form of a genetic disease." [https://orcid.org/0000-0001-5208-3432, https://www.clinicalgenome.org/affiliation/40049/] is_a: MONDO:0100355 {source="https://orcid.org/0000-0001-5208-3432"} ! classic or non-classic genetic disease presentation property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3221 xsd:anyURI [Term] id: MONDO:0100357 name: non-classic presentation def: "A mild or intermediate form of a genetic disease." [https://orcid.org/0000-0001-5208-3432, https://www.clinicalgenome.org/affiliation/40049/] is_a: MONDO:0100355 {source="https://orcid.org/0000-0001-5208-3432"} ! classic or non-classic genetic disease presentation property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3221 xsd:anyURI [Term] id: MONDO:0100358 name: ectodermal dysplasia WNT10A related subset: disease_grouping synonym: "ectodermal dysplasia WNT10A related" EXACT [https://www.clinicalgenome.org/affiliation/40060/] is_a: MONDO:0019287 {source="https://www.clinicalgenome.org/affiliation/40060/"} ! ectodermal dysplasia syndrome property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3293 xsd:anyURI [Term] id: MONDO:0100365 name: mucopolysaccharidosis or mucopolysaccharidosis-like disorder def: "Any disease that presents as a mucopolysaccharidosis or mucopolysaccharidosis-like disorder." [MONDO:patterns/disease-like] is_a: MONDO:0019052 {source="https://orcid.org/0000-0001-5208-3432"} ! inborn errors of metabolism property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3785 xsd:anyURI [Term] id: MONDO:0100366 name: occupational disorder def: "Any disorder that is realized in response to an exposure to occupation." [MONDO:patterns/realized_in_response_to_evironmental_exposure] is_a: EFO:0000408 ! disease property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3061 xsd:anyURI [Term] id: MONDO:0100369 name: iatrogenic or non-iatrogenic def: "A iatrogenic or non-iatrogenic form of a disease." [https://orcid.org/0000-0001-5208-3432] is_a: EFO:0009813 {source="https://orcid.org/0000-0001-5208-3432"} ! disease characteristic property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100372 name: disorder of peroxisomal transporter def: "Any peroxisomal single enzyme/protein defect that disrupts peroxisomal transport." [MONDO:patterns/specific_disease_by_disrupted_process, PMID:17055078, PMID:26611709] synonym: "disorder of peroxisomal transporter defect" EXACT [https://www.clinicalgenome.org/affiliation/40049/] is_a: MONDO:0100257 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisomal single enzyme/protein defect property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2632 xsd:anyURI [Term] id: MONDO:0100373 name: acute myeloid leukemia, inv(16)(p13.1;q22) def: "Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.1;q22). (A chromosomal inversion that involves chromosome 16. It is associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36373] synonym: "AML, inv(16)(p13.1;q22)" EXACT [NCIT:C36373] synonym: "AML, inv(16)(p13.1;q22.1)" EXACT [NCIT:C36373] synonym: "AML, inv(16)(p13.1q22)" EXACT [NCIT:C36373] synonym: "AML, inv(16)(p13.1q22.1)" EXACT [NCIT:C36373] synonym: "AML, inv(16)(p13;q22)" EXACT [NCIT:C36373] synonym: "AML, inv(16)(p13q22)" EXACT [NCIT:C36373] xref: NCIT:C9018 {source="MONDO:equivalentTo"} is_a: EFO:0000222 {source="NCIT:C36373"} ! acute myeloid leukemia property_value: exactMatch NCIT:C9018 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100374 name: acute myeloid leukemia, t(16;16)(p13.1;q22) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(16;16)(p13.1;q22). (A chromosomal translocation that involves chromosome 16. It is often associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C27759] synonym: "AML, t(16;16)(p13.1;q22)" EXACT [NCIT:C27759] synonym: "AML, t(16;16)(p13.1;q22.1)" EXACT [NCIT:C27759] synonym: "AML, t(16;16)(p13.1q22)" EXACT [NCIT:C27759] synonym: "AML, t(16;16)(p13.1q22.1)" EXACT [NCIT:C27759] synonym: "AML, t(16;16)(p13;q22)" EXACT [NCIT:C27759] synonym: "AML, t(16;16)(p13q22)" EXACT [NCIT:C27759] xref: NCIT:C9019 {source="MONDO:equivalentTo"} is_a: EFO:0000222 {source="NCIT:C27759"} ! acute myeloid leukemia property_value: exactMatch NCIT:C9019 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100375 name: acute myeloid leukemia, t(15;17)(q24;q21) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(15;17)(q24;q21). (A chromosomal translocation associated with creation of a fusion between the PML and RARA genes. It is seen in variants of acute promyelocytic leukemia.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C27758] synonym: "AML, t(15;17)(q22;q12)" EXACT [NCIT:C27758] synonym: "AML, t(15;17)(q22;q21)" EXACT [NCIT:C27758] synonym: "AML, t(15;17)(q24;q21)" EXACT [NCIT:C27758] xref: NCIT:C36055 {source="MONDO:equivalentTo"} is_a: EFO:0000222 {source="NCIT:C27758"} ! acute myeloid leukemia property_value: exactMatch NCIT:C36055 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100376 name: acute myeloid leukemia, t(9;11)(p21.3;q23.3) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(9;11)(p21.3;q23.3). (A cytogenetic abnormality that refers to the translocation of the short arm (p21.3) of chromosome 9 and the long arm (q23.3) of chromosome 11. It is associated with the development of acute myeloid leukemia with the MLLT3-MLL fusion gene transcript.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36370] synonym: "AML, t(9;11)(p21.3;q23.3)" EXACT [NCIT:C36370] synonym: "AML, t(9;11)(p22;q23)" EXACT [NCIT:C36370] is_a: EFO:0000222 {source="NCIT:C36370"} ! acute myeloid leukemia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3583 xsd:anyURI [Term] id: MONDO:0100377 name: acute myeloid leukemia, t(10;11)(p12;q23) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p12;q23). (A cytogenetic abnormality that refers to the translocation of chromosome 10p12 with chromosome 11q23. It is associated with acute myeloid leukemia in childhood.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C132102] synonym: "AML, t(10;11)(p12;q23)" EXACT [NCIT:C132102] xref: NCIT:C132101 {source="MONDO:equivalentTo"} is_a: EFO:0000222 {source="NCIT:C132102"} ! acute myeloid leukemia property_value: exactMatch NCIT:C132101 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100378 name: acute myeloid leukemia, t(10;11)(p11.2;q23) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p11.2;q23). (A cytogenetic abnormality that refers to the translocation of the short arm (p11.2) of chromosome 10 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/ABI1 fusions and acute myeloid leukemia.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C168758] synonym: "AML, t(10;11)(p11.2;q23)" EXACT [NCIT:C168758] is_a: EFO:0000222 {source="NCIT:C168758"} ! acute myeloid leukemia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100379 name: acute myeloid leukemia, t(1;11)(q21;q23) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(1;11)(q21;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q21) of chromosome 1 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/MLLT11 (AF1Q) fusions, acute myeloid leukemia and some cases of acute lymphoblastic leukemia.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C168759] synonym: "AML, t(1;11)(q21;q23)" EXACT [NCIT:C168759] is_a: EFO:0000222 {source="NCIT:C168759"} ! acute myeloid leukemia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100380 name: acute myeloid leukemia, t(4;11)(q21;q23) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(4;11)(q21;q23). (A chromosomal abnormality consisting of the translocation of 4q21 with 11q23.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36365] synonym: "AML, t(4;11)(q21;q23)" EXACT [NCIT:C36365] synonym: "AML, t(4;11)(q21;q23.3)" EXACT [NCIT:C36365] is_a: EFO:0000222 {source="NCIT:C36365"} ! acute myeloid leukemia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100381 name: acute myeloid leukemia, t(6;11)(q27;q23) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(6;11)(q27;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q27) of chromosome 6 and the long arm (q23) of chromosome 11. It is associated with the development of de novo acute myeloid leukemia.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36610] synonym: "AML, t(6;11)(q27;q23)" EXACT [NCIT:C36610] synonym: "AML, t(6;11)(q27;q23.3)" EXACT [NCIT:C36610] xref: NCIT:C132105 {source="MONDO:equivalentTo"} is_a: EFO:0000222 {source="NCIT:C36610"} ! acute myeloid leukemia property_value: exactMatch NCIT:C132105 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100382 name: acute myeloid leukemia, t(6;9)(p23;q34.1) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(6;9)(p23;q34.1). (A cytogenetic abnormality that refers to the translocation of the short arm (p23) of chromosome 6 and the long arm (q34.1) of chromosome 9. It is associated with DEK/NUP214 fusions, acute myeloid leukemia and myelodysplastic syndromes.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36532] synonym: "AML, t(6;9)(p22.3;q34.1)" EXACT [NCIT:C36532] synonym: "AML, t(6;9)(p22;q34)" EXACT [NCIT:C36532] synonym: "AML, t(6;9)(p23;q34)" EXACT [NCIT:C36532] synonym: "AML, t(6;9)(p23;q34.1)" EXACT [NCIT:C36532] xref: DOID:0081080 {source="MONDO:equivalentTo"} xref: NCIT:C82423 {source="MONDO:equivalentTo"} is_a: EFO:0000222 {source="NCIT:C36532"} ! acute myeloid leukemia property_value: exactMatch DOID:0081080 property_value: exactMatch NCIT:C82423 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100383 name: acute myeloid leukemia, t(11;19)(q23;p13) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13) of chromosome 19. It is associated with KMT2A (MLL) fusions, including those with MLLT1 (ENL) and ELL, and acute myeloid leukemia.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C168764] synonym: "AML, t(11;19)(q23;p13)" EXACT [NCIT:C168764] is_a: EFO:0000222 {source="NCIT:C168764"} ! acute myeloid leukemia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100384 name: acute myeloid leukemia, t(11;19)(q23;p13.1) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13.1). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13.1) of chromosome 19. It is associated with the development of acute myeloid leukemia with variant MLL translocations and topoisomerase II inhibitor-related acute myeloid leukemia.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36371] synonym: "AML, t(11;19)(q23;p13.1)" EXACT [NCIT:C36371] is_a: EFO:0000222 {source="NCIT:C36371"} ! acute myeloid leukemia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100385 name: acute myeloid leukemia, t(11;19)(q23.3;p13.3) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23.3;p13.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23.3) of chromosome 11 and the short arm (p13.3) of chromosome 19. It is associated with KMT2A (MLL)/MLLT1 (ENL) fusions and acute myeloid leukemia.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36372] synonym: "AML, t(11;19)(q23.3;p13.3)" EXACT [NCIT:C36372] synonym: "AML, t(11;19)(q23;p13.3)" EXACT [NCIT:C36372] is_a: EFO:0000222 {source="NCIT:C36372"} ! acute myeloid leukemia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100386 name: acute myeloid leukemia, t(v;11q23.3) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(v;11q23.3). (A chromosomal abnormality consisting of the translocation of genetic material from any one of several chromosomes to the 11q23.3 region, resulting in an MLL gene rearrangement.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36517] synonym: "AML, 11q23.3 Translocation" EXACT [NCIT:C36517] synonym: "AML, t(11;v)(q23.3;v)" EXACT [NCIT:C36517] synonym: "AML, t(11;v)(q23;v)" EXACT [NCIT:C36517] synonym: "AML, t(V;11)(v;q23)" EXACT [NCIT:C36517] synonym: "AML, t(V;11)(v;q23.3)" EXACT [NCIT:C36517] synonym: "AML, t(v;11q23.3)" EXACT [NCIT:C36517] is_a: EFO:0000222 {source="NCIT:C36517"} ! acute myeloid leukemia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100387 name: acute myeloid leukemia, Monosomy 7 def: "Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 7. (A chromosomal abnormality consisting of the absence of one of the copies of chromosome 7 in somatic cells.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36411] synonym: "AML, Monosomy 7" EXACT [NCIT:C36411] is_a: EFO:0000222 {source="NCIT:C36411"} ! acute myeloid leukemia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3583 xsd:anyURI [Term] id: MONDO:0100388 name: acute myeloid leukemia, Monosomy 5 def: "Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 5. (A cytogenetic aneuploidy abnormality that refers to the presence of one chromosome 5 only. It is associated with the development of refractory anemia with excess blasts, refractory anemia with multilineage dysplasia, and refractory anemia with multilineage dysplasia and ringed sideroblasts.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36523] synonym: "AML, Monosomy 5" EXACT [NCIT:C36523] is_a: EFO:0000222 {source="NCIT:C36523"} ! acute myeloid leukemia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100389 name: acute myeloid leukemia, Trisomy 8 def: "Any acute myeloid leukemia that has the chromosomal anomaly Trisomy 8. (A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36396] synonym: "AML, tri8" EXACT [NCIT:C36396] synonym: "AML, Trisomy 8" EXACT [NCIT:C36396] xref: NCIT:C162775 {source="MONDO:equivalentTo"} is_a: EFO:0000222 {source="NCIT:C36396"} ! acute myeloid leukemia property_value: exactMatch NCIT:C162775 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100390 name: acute myeloid leukemia, der12p def: "Any acute myeloid leukemia that has the chromosomal anomaly der12p. (A cytogenetic abnormality involving the rearrangement of two or more other chromosomes with the short arm of chromosome 12 (12p).)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C173542] synonym: "AML, der(12p)" EXACT [NCIT:C173542] synonym: "AML, der12p" EXACT [NCIT:C173542] is_a: EFO:0000222 {source="NCIT:C173542"} ! acute myeloid leukemia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100391 name: acute myeloid leukemia, t(2;12) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(2;12). (A cytogenetic abnormality that involves a translocation between chromosomes 2 and 12.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C173543] synonym: "AML, t(2;12)" EXACT [NCIT:C173543] is_a: EFO:0000222 {source="NCIT:C173543"} ! acute myeloid leukemia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100392 name: acute myeloid leukemia, t(11;17) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(11;17). (A cytogenetic abnormality that involves a translocation between chromosomes 11 and 17.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C175582] synonym: "AML, t(11;17)" EXACT [NCIT:C175582] is_a: EFO:0000222 {source="NCIT:C175582"} ! acute myeloid leukemia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100393 name: acute myeloid leukemia, t(8;16) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(8;16). (A cytogenetic abnormality that involves a translocation between chromosomes 8 and 16.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C175583] synonym: "AML, t(8;16)" EXACT [NCIT:C175583] is_a: EFO:0000222 {source="NCIT:C175583"} ! acute myeloid leukemia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100394 name: acute myeloid leukemia, t(1;22) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(1;22). (A cytogenetic abnormality that involves a translocation between chromosomes 1 and 22.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C175584] synonym: "AML, t(1;22)" EXACT [NCIT:C175584] is_a: EFO:0000222 {source="NCIT:C175584"} ! acute myeloid leukemia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100395 name: acute myeloid leukemia, t(5;11)(q35;p15) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(5;11)(q35;p15). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 5q35. It results in the formation of NUP98/NSD1 fusion gene. It is associated with the development of acute myeloid leukemia with t(5;11)(q35;p15); NUP98-NSD1.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C131503] synonym: "AML, t(5;11)(q35;p15)" EXACT [NCIT:C131503] xref: NCIT:C131502 {source="MONDO:equivalentTo"} is_a: EFO:0000222 {source="NCIT:C131503"} ! acute myeloid leukemia property_value: exactMatch NCIT:C131502 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100396 name: acute myeloid leukemia, t(7;12)(q36;p13) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(7;12)(q36;p13). (A chromosomal translocation involving the ETV6 gene on chromosome 12p13 and HLXB9 gene on chromosome 7q36.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C122689] synonym: "AML, t(7;12)(q36;p13)" EXACT [NCIT:C122689] xref: NCIT:C122690 {source="MONDO:equivalentTo"} is_a: EFO:0000222 {source="NCIT:C122689"} ! acute myeloid leukemia property_value: exactMatch NCIT:C122690 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100397 name: acute myeloid leukemia, t(9;22)(q34.1;q11.2) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(9;22)(q34.1;q11.2). (A translocation between chromosomes 9 and 22 that is associated with the Philadelphia chromosome.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C13271] synonym: "AML, t(9;22)(q34.1;q11.2)" EXACT [NCIT:C13271] synonym: "AML, t(9;22)(q34;q11)" EXACT [NCIT:C13271] synonym: "AML, t(9;22)(q34;q11.2)" EXACT [NCIT:C13271] is_a: EFO:0000222 {source="NCIT:C13271"} ! acute myeloid leukemia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100398 name: acute myeloid leukemia, inv(3)(q21.3;q26.2) def: "Any acute myeloid leukemia that has the chromosomal anomaly inv(3)(q21.3;q26.2). (A cytogenetic abnormality that refers to a paracentric inversion involving breakpoints on the long (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36407] synonym: "AML, inv(3)(q21.3;q26.2)" EXACT [NCIT:C36407] synonym: "AML, inv(3)(q21.3q26.2)" EXACT [NCIT:C36407] synonym: "AML, inv(3)(q21q26.2)" EXACT [NCIT:C36407] xref: NCIT:C122716 {source="MONDO:equivalentTo"} is_a: EFO:0000222 {source="NCIT:C36407"} ! acute myeloid leukemia property_value: exactMatch NCIT:C122716 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100399 name: acute myeloid leukemia, t(3;3)(q21.3;q26.2) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(3;3)(q21.3;q26.2). (A cytogenetic abnormality that refers to the translocation where both breakpoints are on the long arm (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36406] synonym: "AML, t(3;3)(q21.3;q26.2)" EXACT [NCIT:C36406] synonym: "AML, t(3;3)(q21.3q26.2)" EXACT [NCIT:C36406] synonym: "AML, t(3;3)(q21;q26.2)" EXACT [NCIT:C36406] synonym: "AML, t(3;3)(q26;q21)" EXACT [NCIT:C36406] xref: NCIT:C122717 {source="MONDO:equivalentTo"} is_a: EFO:0000222 {source="NCIT:C36406"} ! acute myeloid leukemia property_value: exactMatch NCIT:C122717 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100400 name: acute myeloid leukemia, t(3;12)(q23;p12.3) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(3;12)(q23;p12.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 3 and the short arm (p12.3) of chromosome 12. It is associated with ETV6/MECOM (EVI1) fusions, myeloproliferative disorders, myelodysplastic syndromes and acute myelogenous leukemia.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C168766] synonym: "AML, t(3;12)(q23;p12.3)" EXACT [NCIT:C168766] is_a: EFO:0000222 {source="NCIT:C168766"} ! acute myeloid leukemia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100401 name: acute myeloid leukemia, del(5q31-q32) def: "Any acute myeloid leukemia that has the chromosomal anomaly del(5q31-q32). (A cytogenetic abnormality that refers to deletion of chromosome bands 31-32 on the long arm of chromosome 5.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C168769] synonym: "AML, 5q31-32 Deletion" EXACT [NCIT:C168769] synonym: "AML, del(5)(q31-q32)" EXACT [NCIT:C168769] synonym: "AML, del(5)(q31q32)" EXACT [NCIT:C168769] synonym: "AML, del(5q31-q32)" EXACT [NCIT:C168769] is_a: EFO:0000222 {source="NCIT:C168769"} ! acute myeloid leukemia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100402 name: acute myeloid leukemia, del(13q14-q21) def: "Any acute myeloid leukemia that has the chromosomal anomaly del(13q14-q21). (A cytogenetic abnormality that refers to deletion of chromosome bands 14-21 on the long arm of chromosome 13.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C168770] synonym: "AML, 13q14-q21 Deletion" EXACT [NCIT:C168770] synonym: "AML, del(13)(q14-q21)" EXACT [NCIT:C168770] synonym: "AML, del(13)(q14q21)" EXACT [NCIT:C168770] synonym: "AML, del(13q)(13q14-21)" EXACT [NCIT:C168770] synonym: "AML, del(13q14-q21)" EXACT [NCIT:C168770] is_a: EFO:0000222 {source="NCIT:C168770"} ! acute myeloid leukemia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100403 name: acute myeloid leukemia, loss of chromosome 17p def: "Any acute myeloid leukemia that has the chromosomal anomaly loss of chromosome 17p. (A cytogenetic abnormality that refers to the loss of all or part of the short arm of chromosome 17 (17p).)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36499] synonym: "AML, del(17p)" EXACT [NCIT:C36499] synonym: "AML, loss of chromosome 17p" EXACT [NCIT:C36499] is_a: EFO:0000222 {source="NCIT:C36499"} ! acute myeloid leukemia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100404 name: acute myeloid leukemia, MLL gene rearrangement def: "Any acute myeloid leukemia that has the chromosomal anomaly MLL gene rearrangement. (A molecular abnormality indicating rearrangement of the MLL (KMT2A) gene.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C122623] synonym: "AML, KMT2A Gene Rearrangement" EXACT [NCIT:C122623] synonym: "AML, KMT2A Rearrangement" EXACT [NCIT:C122623] synonym: "AML, Lysine (K)-Specific Methyltransferase 2A Gene Rearrangement" EXACT [NCIT:C122623] synonym: "AML, Lysine Methyltransferase 2A Gene Rearrangement" EXACT [NCIT:C122623] synonym: "AML, Mixed Lineage Leukaemia Gene Rearrangement" EXACT OMO:0003005 [] synonym: "AML, Mixed Lineage Leukemia Gene Rearrangement" EXACT [NCIT:C122623] synonym: "AML, MLL gene rearrangement" EXACT [NCIT:C122623] synonym: "AML, MLL Rearrangement" EXACT [NCIT:C122623] synonym: "AML, Myeloid/Lymphoid Leukaemia Gene Rearrangement" EXACT OMO:0003005 [] synonym: "AML, Myeloid/Lymphoid Leukemia Gene Rearrangement" EXACT [NCIT:C122623] synonym: "AML, Myeloid/Lymphoid or Mixed Lineage Leukaemia Gene Rearrangement" EXACT OMO:0003005 [] synonym: "AML, Myeloid/Lymphoid or Mixed Lineage Leukemia Gene Rearrangement" EXACT [NCIT:C122623] synonym: "AML, Myeloid/Lymphoid or Mixed-Lineage Leukaemia (Trithorax Homolog, Drosophila) Gene Rearrangement" EXACT OMO:0003005 [] synonym: "AML, Myeloid/Lymphoid or Mixed-Lineage Leukemia (Trithorax Homolog, Drosophila) Gene Rearrangement" EXACT [NCIT:C122623] xref: DOID:0081094 {source="MONDO:equivalentTo"} xref: NCIT:C174129 {source="MONDO:equivalentTo"} is_a: EFO:0000222 {source="NCIT:C122623"} ! acute myeloid leukemia property_value: exactMatch DOID:0081094 property_value: exactMatch NCIT:C174129 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100405 name: acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive def: "Any acute myeloid leukemia that has the chromosomal anomaly Non-KMT2A MLLT10 rearrangement positive. (An indication that a cytogenetic rearrangement involving MLLT10 but not involving KMT2A was detected in a sample.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C168771] synonym: "AML, Non-KMT2A MLLT10 Rearrangement" EXACT [NCIT:C168771] synonym: "AML, Non-KMT2A MLLT10 rearrangement positive" EXACT [NCIT:C168771] synonym: "AML, Non-MLL MLLT10 Rearrangement" EXACT [NCIT:C168771] synonym: "AML, Non-MLL MLLT10 Rearrangement Positive" EXACT [NCIT:C168771] is_a: EFO:0000222 {source="NCIT:C168771"} ! acute myeloid leukemia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100406 name: acute myeloid leukemia, inv(16)(p13.3;q24.3) def: "Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.3;q24.3). (A pericentric chromosomal inversion that involves chromosome 16. It is associated with CBFA2T3/GLIS2 fusions and pediatric acute megakaryoblastic leukemia.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C167195] synonym: "AML, inv(16)(p13.3;q24.3)" EXACT [NCIT:C167195] synonym: "AML, inv(16)(p13.3q24.3)" EXACT [NCIT:C167195] synonym: "AML, inv(16)(p13;q24)" EXACT [NCIT:C167195] synonym: "AML, inv(16)(p13q24)" EXACT [NCIT:C167195] is_a: EFO:0000222 {source="NCIT:C167195"} ! acute myeloid leukemia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100407 name: acute myeloid leukemia, t(11;15)(p15;q35) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(11;15)(p15;q35). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 15q35. It results in the formation of NUP98/JARID1A fusion gene. It is associated with the development of acute myeloid leukemia with t(11;15)(p15;q35); NUP98-JARID1A.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C131505] synonym: "AML, t(11;15)(p15;q35)" EXACT [NCIT:C131505] xref: NCIT:C131504 {source="MONDO:equivalentTo"} is_a: EFO:0000222 {source="NCIT:C131505"} ! acute myeloid leukemia property_value: exactMatch NCIT:C131504 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100408 name: acute myeloid leukemia, t(16;21)(q24;q22) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(q24;q22). (A cytogenetic abnormality that refers to the translocation of the long arm (q24) of chromosome 16 and the long arm (q22) of chromosome 22. It is associated with RUNX1/CBFA2T3 fusions, myelodysplastic syndromes and acute myeloid leukemia.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C168773] synonym: "AML, t(16;21)(q24;q22)" EXACT [NCIT:C168773] is_a: EFO:0000222 {source="NCIT:C168773"} ! acute myeloid leukemia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100409 name: acute myeloid leukemia, t(3;5)(q25;q34) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(3;5)(q25;q34). (A cytogenetic abnormality that refers to the translocation of the long arm (q25) of chromosome 3 and the long arm (q34) of chromosome 5. It is associated with the development of acute myeloid leukemia arising from myelodysplastic syndrome, acute myeloid leukemia with multilineage dysplasia, and acute myeloid leukemia with myelodysplasia-related changes.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36415] synonym: "AML, t(3;5)(q25;q34)" EXACT [NCIT:C36415] xref: DOID:0081092 {source="MONDO:equivalentTo"} xref: NCIT:C7600 {source="MONDO:equivalentTo"} is_a: EFO:0000222 {source="NCIT:C36415"} ! acute myeloid leukemia property_value: exactMatch DOID:0081092 property_value: exactMatch NCIT:C7600 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100410 name: acute myeloid leukemia, t(16;21)(p11;q22) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(p11;q22). (A chromosomal translocation involving the FUS gene on chromosome 16p11 and the ERG gene on chromosome 21q22.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36616] synonym: "AML, t(16;21)(p11.2;q22.2)" EXACT [NCIT:C36616] synonym: "AML, t(16;21)(p11;q22)" EXACT [NCIT:C36616] is_a: EFO:0000222 {source="NCIT:C36616"} ! acute myeloid leukemia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100411 name: obsolete acute myeloid leukemia, NPM1 gene mutation property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3583 xsd:anyURI is_obsolete: true replaced_by: MONDO:0044923 [Term] id: MONDO:0100412 name: acute myeloid leukemia, monoallelic CEBPA gene mutation def: "Any acute myeloid leukemia that has the chromosomal anomaly monoallelic CEBPA gene mutation. (The presence of mutations in only one allele of the CEBPA gene.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C168774] synonym: "AML, C/EBP-Alpha Monoallelic Gene Mutation" EXACT [NCIT:C168774] synonym: "AML, C/EBPalpha Monoallelic Gene Mutation" EXACT [NCIT:C168774] synonym: "AML, CCAAT Enhancer Binding Protein Alpha Monoallelic Gene Mutation" EXACT [NCIT:C168774] synonym: "AML, CCAAT/Enhancer Binding Protein Alpha Monoallelic Gene Mutation" EXACT [NCIT:C168774] synonym: "AML, CCAAT/Enhancer Binding Protein, Alpha Monoallelic Gene Mutation" EXACT [NCIT:C168774] synonym: "AML, CEBP Monoallelic Gene Mutation" EXACT [NCIT:C168774] synonym: "AML, CEBPA Monoallelic Gene Mutation" EXACT [NCIT:C168774] synonym: "AML, CEBPA Monoallelic Mutation" EXACT [NCIT:C168774] synonym: "AML, moCEBPA" EXACT [NCIT:C168774] synonym: "AML, monoallelic CEBPA gene mutation" EXACT [NCIT:C168774] is_a: EFO:0000222 {source="NCIT:C168774"} ! acute myeloid leukemia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100413 name: acute myeloid leukemia, biallelic CEBPA gene mutation def: "Any acute myeloid leukemia that has the chromosomal anomaly biallelic CEBPA gene mutation. (The presence of mutations in both alleles of the CEBPA gene.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C157569] synonym: "AML, biallelic CEBPA gene mutation" EXACT [NCIT:C157569] synonym: "AML, biCEBPA" EXACT [NCIT:C157569] synonym: "AML, C/EBP-Alpha Biallelic Gene Mutation" EXACT [NCIT:C157569] synonym: "AML, C/EBPalpha Biallelic Gene Mutation" EXACT [NCIT:C157569] synonym: "AML, CCAAT Enhancer Binding Protein Alpha Biallelic Gene Mutation" EXACT [NCIT:C157569] synonym: "AML, CCAAT/Enhancer Binding Protein Alpha Biallelic Gene Mutation" EXACT [NCIT:C157569] synonym: "AML, CCAAT/Enhancer Binding Protein, Alpha Biallelic Gene Mutation" EXACT [NCIT:C157569] synonym: "AML, CEBP Biallelic Gene Mutation" EXACT [NCIT:C157569] synonym: "AML, CEBPA Biallelic Gene Mutation" EXACT [NCIT:C157569] synonym: "AML, CEBPA Biallelic Mutation" EXACT [NCIT:C157569] xref: DOID:0081090 {source="MONDO:equivalentTo"} is_a: EFO:0000222 {source="NCIT:C157569"} ! acute myeloid leukemia property_value: exactMatch DOID:0081090 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100414 name: acute myeloid leukemia, CEBPA gene mutation def: "Any acute myeloid leukemia that has the chromosomal anomaly CEBPA gene mutation. (Mutation of the CEBPA gene encoding CCAAT/enhancer binding protein alpha. It is seen in acute myeloid leukemias usually associated with a normal karyotype.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C38372] synonym: "AML, C/EBP-Alpha Gene Mutation" EXACT [NCIT:C38372] synonym: "AML, C/EBPalpha Mutation" EXACT [NCIT:C38372] synonym: "AML, CCAAT Enhancer Binding Protein Alpha Gene Mutation" EXACT [NCIT:C38372] synonym: "AML, CCAAT/Enhancer Binding Protein, Alpha Gene Mutation" EXACT [NCIT:C38372] synonym: "AML, CEBP Gene Mutation" EXACT [NCIT:C38372] synonym: "AML, CEBPA gene mutation" EXACT [NCIT:C38372] synonym: "AML, CEBPA Mutation" EXACT [NCIT:C38372] xref: NCIT:C151898 {source="MONDO:equivalentTo"} is_a: EFO:0000222 {source="NCIT:C38372"} ! acute myeloid leukemia property_value: exactMatch NCIT:C151898 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100415 name: acute myeloid leukemia, FLT3 internal tandem duplication def: "Any acute myeloid leukemia that has the chromosomal anomaly FLT3 internal tandem duplication. (A genetic abnormality that arises from duplications of the juxtamembrane portion of the gene and results in constitutive activation of the FLT3 receptor tyrosine kinase protein in early hematopoietic progenitor cells. It is associated with acute myelogenous leukemia where it appears to correlate with a poor prognosis.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C67494] synonym: "AML, Activating FLT3-ITD Gene Mutation" EXACT [NCIT:C67494] synonym: "AML, Activating FLT3-ITD Mutation" EXACT [NCIT:C67494] synonym: "AML, FLT3 internal tandem duplication" EXACT [NCIT:C67494] synonym: "AML, FLT3 ITD" EXACT [NCIT:C67494] synonym: "AML, FLT3-ITD" EXACT [NCIT:C67494] synonym: "AML, FLT3-ITD Activating Mutation" EXACT [NCIT:C67494] synonym: "AML, FLT3-ITD Mutation" EXACT [NCIT:C67494] synonym: "AML, FLT3/ITD Mutation" EXACT [NCIT:C67494] xref: NCIT:C126748 {source="MONDO:equivalentTo"} is_a: EFO:0000222 {source="NCIT:C67494"} ! acute myeloid leukemia property_value: exactMatch NCIT:C126748 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100416 name: acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation def: "Any acute myeloid leukemia that has the chromosomal anomaly FLT3 tyrosine kinase domain point mutation. (Single nucleotide mutations in the tyrosine kinase domain encoded by the human FLT3 gene that are associated with acute myeloid leukemia and poor prognosis.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C67495] synonym: "AML, FLT3 tyrosine kinase domain point mutation" EXACT [NCIT:C67495] synonym: "AML, FLT3-TKD Point Mutation" EXACT [NCIT:C67495] synonym: "AML, FLT3/TKD Point Mutation" EXACT [NCIT:C67495] is_a: EFO:0000222 {source="NCIT:C67495"} ! acute myeloid leukemia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100417 name: acute myeloid leukemia, WT1 gene mutation def: "Any acute myeloid leukemia that has the chromosomal anomaly WT1 gene mutation. (A change in the nucleotide sequence of the WT1 gene.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C146726] synonym: "AML, GUD Gene Mutation" EXACT [NCIT:C146726] synonym: "AML, WAGR Gene Mutation" EXACT [NCIT:C146726] synonym: "AML, Wilms Tumor 1 Gene Mutation" EXACT [NCIT:C146726] synonym: "AML, Wilms Tumour 1 Gene Mutation" EXACT OMO:0003005 [] synonym: "AML, WIT-2 Gene Mutation" EXACT [NCIT:C146726] synonym: "AML, WT1 gene mutation" EXACT [NCIT:C146726] synonym: "AML, WT1 mutation" EXACT [NCIT:C146726] synonym: "AML, WT33 Gene Mutation" EXACT [NCIT:C146726] is_a: EFO:0000222 {source="NCIT:C146726"} ! acute myeloid leukemia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100418 name: acute myeloid leukemia, KIT exon 17 mutation def: "Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 17 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 17 of the KIT gene located within 4q11-q12.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C116396] synonym: "AML, c-KIT Exon 17 Mutation" EXACT [NCIT:C116396] synonym: "AML, CD117 Exon 17 Mutation" EXACT [NCIT:C116396] synonym: "AML, KIT exon 17 mutation" EXACT [NCIT:C116396] synonym: "AML, KIT Proto-Oncogene Tyrosine Protein Kinase Gene Exon 17 Mutation" EXACT [NCIT:C116396] synonym: "AML, v-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Exon 17 Mutation" EXACT [NCIT:C116396] is_a: EFO:0000222 {source="NCIT:C116396"} ! acute myeloid leukemia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100419 name: acute myeloid leukemia, KIT exon 8 mutation def: "Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 8 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 8 of the KIT gene located within 4q11-q12.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C128660] synonym: "AML, c-KIT Exon 8 Mutation" EXACT [NCIT:C128660] synonym: "AML, CD117 Exon 8 Mutation" EXACT [NCIT:C128660] synonym: "AML, KIT exon 8 mutation" EXACT [NCIT:C128660] synonym: "AML, KIT Proto-Oncogene Tyrosine Protein Kinase Gene Exon 8 Mutation" EXACT [NCIT:C128660] synonym: "AML, v-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Exon 8 Mutation" EXACT [NCIT:C128660] is_a: EFO:0000222 {source="NCIT:C128660"} ! acute myeloid leukemia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100420 name: acute myeloid leukemia, KIT gene mutation def: "Any acute myeloid leukemia that has the chromosomal anomaly KIT gene mutation. (A molecular genetic abnormality that refers to mutation of the c-kit (CD117) proto-oncogene. It is associated with the development of gastrointestinal stromal tumor and gastrointestinal autonomic nerve tumor. It has also been described in acute myeloid leukemias, dysgerminomas, and seminomas.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C39712] synonym: "AML, c-KIT Gene Mutation" EXACT [NCIT:C39712] synonym: "AML, C-KIT Mutation" EXACT [NCIT:C39712] synonym: "AML, CD117 Gene Mutation" EXACT [NCIT:C39712] synonym: "AML, CD117 Mutation" EXACT [NCIT:C39712] synonym: "AML, KIT gene mutation" EXACT [NCIT:C39712] synonym: "AML, KIT Proto-Oncogene Tyrosine Protein Kinase Gene Mutation" EXACT [NCIT:C39712] synonym: "AML, V-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Mutation" EXACT [NCIT:C39712] is_a: EFO:0000222 {source="NCIT:C39712"} ! acute myeloid leukemia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100421 name: acute myeloid leukemia, GATA1 gene mutation def: "Any acute myeloid leukemia that has the chromosomal anomaly GATA1 gene mutation. (A change in the nucleotide sequence of the GATA1 gene.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C82340] synonym: "AML, ERYF1 Gene Mutation" EXACT [NCIT:C82340] synonym: "AML, GATA Binding Protein 1 Gene Mutation" EXACT [NCIT:C82340] synonym: "AML, GATA-1 Gene Mutation" EXACT [NCIT:C82340] synonym: "AML, GATA1 gene mutation" EXACT [NCIT:C82340] synonym: "AML, GATA1 Mutation" EXACT [NCIT:C82340] synonym: "AML, GF-1 Gene Mutation" EXACT [NCIT:C82340] synonym: "AML, GF1 Gene Mutation" EXACT [NCIT:C82340] synonym: "AML, NF-E1 Gene Mutation" EXACT [NCIT:C82340] synonym: "AML, NFE1 Gene Mutation" EXACT [NCIT:C82340] is_a: EFO:0000222 {source="NCIT:C82340"} ! acute myeloid leukemia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100422 name: acute myeloid leukemia, RUNX1 gene mutation def: "Any acute myeloid leukemia that has the chromosomal anomaly RUNX1 gene mutation. (A change in the nucleotide sequence of the RUNX1 gene.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C38362] synonym: "AML, Acute Myeloid Leukaemia 1 Gene Mutation" EXACT OMO:0003005 [] synonym: "AML, Acute Myeloid Leukemia 1 Gene Mutation" EXACT [NCIT:C38362] synonym: "AML, AML1 Gene Mutation" EXACT [NCIT:C38362] synonym: "AML, AML1 Mutation" EXACT [NCIT:C38362] synonym: "AML, AMLCR1 Gene Mutation" EXACT [NCIT:C38362] synonym: "AML, CBFA2 Gene Mutation" EXACT [NCIT:C38362] synonym: "AML, CBFalpha2 Mutation" EXACT [NCIT:C38362] synonym: "AML, Runt-Related Transcription Factor 1 Gene Mutation" EXACT [NCIT:C38362] synonym: "AML, RUNX1 gene mutation" EXACT [NCIT:C38362] xref: DOID:0081091 {source="MONDO:equivalentTo"} xref: NCIT:C129786 {source="MONDO:equivalentTo"} is_a: EFO:0000222 {source="NCIT:C38362"} ! acute myeloid leukemia property_value: exactMatch DOID:0081091 property_value: exactMatch NCIT:C129786 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100423 name: acute myeloid leukemia, PTPN11 gene mutation def: "Any acute myeloid leukemia that has the chromosomal anomaly PTPN11 gene mutation. (Mutation of the protein tyrosine phosphatase, non-receptor type 11 gene. It is seen in cases of juvenile myelomonocytic leukemia.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C82612] synonym: "AML, BPTP3 Gene Mutation" EXACT [NCIT:C82612] synonym: "AML, Protein Tyrosine Phosphatase Non-Receptor Type 11 Gene Mutation" EXACT [NCIT:C82612] synonym: "AML, Protein Tyrosine Phosphatase, Non-Receptor Type 11 Gene Mutation" EXACT [NCIT:C82612] synonym: "AML, PTP-1D Gene Mutation" EXACT [NCIT:C82612] synonym: "AML, PTP2C Gene Mutation" EXACT [NCIT:C82612] synonym: "AML, PTPN11 gene mutation" EXACT [NCIT:C82612] synonym: "AML, SH-PTP2 Gene Mutation" EXACT [NCIT:C82612] synonym: "AML, SHP-2 Gene Mutation" EXACT [NCIT:C82612] synonym: "AML, SHP2 Gene Mutation" EXACT [NCIT:C82612] is_a: EFO:0000222 {source="NCIT:C82612"} ! acute myeloid leukemia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100424 name: acute myeloid leukemia, NRAS gene mutation def: "Any acute myeloid leukemia that has the chromosomal anomaly NRAS gene mutation. (A change in the structure of the NRAS gene.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C41381] synonym: "AML, N-RAS Gene Mutation" EXACT [NCIT:C41381] synonym: "AML, Neuroblastoma RAS Viral Oncogene Homolog Gene Mutation" EXACT [NCIT:C41381] synonym: "AML, NRAS gene mutation" EXACT [NCIT:C41381] is_a: EFO:0000222 {source="NCIT:C41381"} ! acute myeloid leukemia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100425 name: acute myeloid leukemia, KRAS gene mutation def: "Any acute myeloid leukemia that has the chromosomal anomaly KRAS gene mutation. (A change in the nucleotide sequence of the KRAS gene.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C41361] synonym: "AML, c-K-ras Gene Mutation" EXACT [NCIT:C41361] synonym: "AML, KRAS Gene Mutation" EXACT [NCIT:C41361] synonym: "AML, KRAS gene mutation" EXACT [NCIT:C41361] synonym: "AML, KRAS-2 Gene Mutation" EXACT [NCIT:C41361] synonym: "AML, KRAS2 Gene Mutation" EXACT [NCIT:C41361] synonym: "AML, v-Ki-ras2 Kirsten Rat Sarcoma Viral Oncogene Homolog Gene Mutation" EXACT [NCIT:C41361] is_a: EFO:0000222 {source="NCIT:C41361"} ! acute myeloid leukemia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3452 xsd:anyURI [Term] id: MONDO:0100426 name: iatrogenic def: "A characteristic of a diseae which results from diagnostic and therapeutic procedures undertaken on a patient." [PMID:27407693] is_a: MONDO:0100369 {source="https://orcid.org/0000-0001-5208-3432"} ! iatrogenic or non-iatrogenic property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100431 name: migraine without aura def: "A migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms." [NCIT:C117004] synonym: "common migraine" EXACT [NCIT:C117004] xref: DOID:12783 {source="MONDO:equivalentTo"} xref: EFO:0005296 {source="MONDO:equivalentTo"} xref: MESH:D020326 {source="MONDO:equivalentTo"} xref: NCIT:C117004 {source="MONDO:equivalentTo"} xref: SCTID:56097005 {source="MONDO:equivalentTo"} xref: UMLS:C0338480 {source="MONDO:equivalentTo"} is_a: MONDO:0005277 {source="https://orcid.org/0000-0001-7451-4467"} ! migraine disorder property_value: exactMatch DOID:12783 property_value: exactMatch DOID:12783 property_value: exactMatch http://identifiers.org/mesh/D020326 property_value: exactMatch http://identifiers.org/mesh/D020326 property_value: exactMatch http://identifiers.org/snomedct/56097005 property_value: exactMatch http://identifiers.org/snomedct/56097005 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0338480 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0338480 property_value: exactMatch NCIT:C117004 property_value: exactMatch NCIT:C117004 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3984 xsd:anyURI [Term] id: MONDO:0100440 name: Asperger syndrome, susceptibility to def: "An inherited susceptibility or predisposition to developing Asperger sydrome." [MONDO:patterns/inherited_susceptibility] xref: OMIMPS:608638 {source="MONDO:equivalentTo"} is_a: MONDO:0020573 {source="OMIMPS:608638"} ! inherited disease susceptibility intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: predisposes_towards EFO:0003757 ! Asperger syndrome relationship: predisposes_towards EFO:0003757 {source="OMIMPS:608638"} ! Asperger syndrome property_value: exactMatch https://omim.org/phenotypicSeries/PS608638 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100443 name: RDH5-related retinopathy def: "A retinopathy caused by bialleleic variants in the RDH5 gene, often involving flecks in the retina." [https://clinicalgenome.org/affiliation/40072/] synonym: "fundus albipunctatus" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:136880] synonym: "pigmentary retinal dystrophy" NARROW [DOID:11105, https://clinicalgenome.org/affiliation/40072/, ICD9CM:362.74] synonym: "RDH5 retinopathy" EXACT [https://clinicalgenome.org/affiliation/40072/] synonym: "retinitis punctata albescens" NARROW [DOID:11105, https://clinicalgenome.org/affiliation/40072/, OMIM:136880] is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3898 xsd:anyURI [Term] id: MONDO:0100444 name: RLBP1-related retinopathy def: "A retinopathy caused by bialleleic variants in the RLBP1 gene, often involving flecks in the retina." [https://clinicalgenome.org/affiliation/40072/] synonym: "Bothnia retinal dystrophy" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:607475] synonym: "cone-rod dystrophy caused by mutation in RLBP1" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern] synonym: "fundus albipunctatus" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:136880] synonym: "Newfoundland ROD-cone dystrophy" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:607476] synonym: "Newfoundland rod-cone dystrophy" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:607476] synonym: "NFRCD" NARROW ABBREVIATION [DOID:0111015, https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:607476] synonym: "pigmentary retinal dystrophy" NARROW [DOID:11105, https://clinicalgenome.org/affiliation/40072/, ICD9CM:362.74] synonym: "retinitis punctata albescens" NARROW [DOID:11105, https://clinicalgenome.org/affiliation/40072/, OMIM:136880, Orphanet:52427] synonym: "RLBP1 cone-rod dystrophy" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "RLBP1 retinopathy" EXACT [https://clinicalgenome.org/affiliation/40072/] synonym: "Vasterbotten dystrophy" NARROW [DOID:0050683, https://clinicalgenome.org/affiliation/40072/, OMIM:607475, Orphanet:85128] synonym: "Västerbotten dystrophy" NARROW [https://clinicalgenome.org/affiliation/40072/, Orphanet:85128] is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3898 xsd:anyURI [Term] id: MONDO:0100449 name: FLVCR1-related retinopathy with or without ataxia def: "A disorder characterized by retinopathy with ataxia in most patients, caused by biallelic variants in the FLVCR1 gene." [https://clinicalgenome.org/affiliation/40072/] synonym: "ataxia, posterior column, with retinitis pigmentosa" NARROW [https://clinicalgenome.org/affiliation/40072/] synonym: "autosomal recessive posterior column ataxia and retinitis pigmentosa" NARROW [https://clinicalgenome.org/affiliation/40072/, Orphanet:88628] synonym: "AXPC1" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:609033] synonym: "FLVCR1 retinopathy with or without ataxia" EXACT [https://clinicalgenome.org/affiliation/40072/] synonym: "PCARP" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/, Orphanet:88628] synonym: "posterior column ataxia with retinitis pigmentosa" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:609033] synonym: "posterior column ataxia-retinitis pigmentosa syndrome" NARROW [https://clinicalgenome.org/affiliation/40072/] is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy is_a: MONDO:0020046 {source="https://clinicalgenome.org/affiliation/40072/"} ! autosomal recessive degenerative and progressive cerebellar ataxia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3898 xsd:anyURI [Term] id: MONDO:0100455 name: neonatal-onset developmental and epileptic encephalopathy def: "A complex neurodevelopmental disorder characterized by a neonatal onset of recurrent seizures, an abnormal neonatal electroencephalographic background with multifocal epileptiform discharges, excessive discontinuity, and/or burst-suppression patterns, and encephalopathy. Seizures may be pharmacoresistant or responsive. Developmental delays persist but vary in severity. In some individuals, subsequent evolution to other epileptic encephalopathy syndromes (e.g. West syndrome) may occur." [https://clinicalgenome.org/affiliation/40005/] is_a: MONDO:0020070 ! neonatal epilepsy syndrome is_a: MONDO:0100062 {source="https://clinicalgenome.org/affiliation/40005/"} ! developmental and epileptic encephalopathy property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4058 xsd:anyURI [Term] id: MONDO:0100463 name: methylmalonic aciduria and/or homocystinuria, cblD type def: "An autosomal recessive inborn disorder of cobalamin metabolism caused by biallelic variants in MMADHC. Depending on the type and location of variants in MMADHC, patients may present with methylmalonic aciduria, homocystinuria, or both. MMADHC has been reported to result in the cblD complementation group of cobalamin disorders." [https://orcid.org/0000-0002-5655-9589] is_a: MONDO:0019220 ! inborn disorder of cobalamin metabolism and transport property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4905 xsd:anyURI [Term] id: MONDO:0100464 name: acid sphingomyelinase deficiency def: "An autosomal recessive lysosomal disease caused by biallelic loss of function variants in the SMPD1 gene. Clinical symptoms in affected individuals occur along a continuum. At the severe end of the spectrum are individuals historically diagnosed with Niemann-Pick disease type A (the neurovisceral form), which is characterized by hepatosplenomegaly with rapid neurological deterioration leading to death in the first few years of life. At the milder end of the spectrum are individuals historically diagnosed with Niemann-Pick disease type B, a later-onset, chronic visceral form, characterized by progressive visceral organ symptoms including hepatosplenomegaly and pulmonary insufficiency, and survival into adulthood. In addition, some affected individuals present with an intermediate phenotype, Niemann-Pick disease type A/B." [https://clinicalgenome.org/affiliation/40110/, PMID:20301544, PMID:28406489, PMID:34654332] is_a: EFO:1001380 {source="https://clinicalgenome.org/affiliation/40110/"} ! Niemann-Pick disease property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4984 xsd:anyURI [Term] id: MONDO:0100472 name: lissencephaly spectrum disorder with complex brainstem malformation def: "A lissencephaly spectrum disorder that manifests as posterior predominant pachygyria (ranging from mild severity to classic lissencephaly) and brainstem malformations which include brainstem dysplasia (typically with reduced anteroposterior thickness and transverse broadening of the pons/medulla) and midline crossing defects (anterior commissure, transverse pontine fibers, pyramidal tract, callosum hypoplasia)." [https://www.clinicalgenome.org/affiliation/40020/] is_a: MONDO:0018838 {source="https://www.clinicalgenome.org/affiliation/40020/"} ! lissencephaly spectrum disorders property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6271 xsd:anyURI [Term] id: MONDO:0100473 name: disorder of peptide and amine metabolism def: "An inherited metabolic disease that has its basis in the disruption of peptide and/or amine metabolic process." [MONDO:patterns/inborn_metabolic] is_a: MONDO:0019052 {source="PMID:33340416"} ! inborn errors of metabolism property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0100477 name: disorder of methylamine metabolism def: "An inherited metabolic disease that has its basis in the disruption of methylamine metabolic process." [MONDO:patterns/inborn_metabolic] is_a: MONDO:0100473 {source="PMID:33340416"} ! disorder of peptide and amine metabolism property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0100493 name: autosomal recessive titinopathy def: "Autosomal recessive form of TTN-related myopathy." [MONDO:patterns/autosomal_recessive] synonym: "TTN-related myopathy, autosomal recessive" EXACT [https://clinicalgenome.org/affiliation/40031/] is_a: EFO:1000017 ! autosomal recessive disease is_a: MONDO:0100175 {source="https://clinicalgenome.org/affiliation/40031/"} ! TTN-related myopathy property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100494 name: autosomal dominant titinopathy def: "Autosomal dominant form of TTN-related myopathy." [MONDO:patterns/autosomal_dominant] synonym: "TTN-related myopathy, autosomal dominant" EXACT [https://clinicalgenome.org/affiliation/40031/] is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0100175 {source="https://clinicalgenome.org/affiliation/40031/"} ! TTN-related myopathy property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100498 name: UROD-related inherited porphyria def: "Any inherited porphyria in which the cause of the disease is monoallelic or biallelic variants in the UROD gene." [https://clinicalgenome.org/affiliation/40097/, MONDO:patterns/disease_series_by_gene] is_a: MONDO:0019142 {source="https://clinicalgenome.org/affiliation/40097/"} ! inherited porphyria property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5128 xsd:anyURI [Term] id: MONDO:0100499 name: multiple congenital anomalies due to 14q32.2 imprinting defect def: "Multiple congenital anomalies caused by imprinting defects at 14q32.2 include Kagami-Ogata syndrome and Temple syndrome. Kagami-Ogata syndrome is characterized by typical facial features, skeletal abnormalities (including \"coat-hanger ribs\", and bell-shaped thorax), abdominal wall defects, and developmental delay, and is caused by defects or absence of maternally derived imprinting signals (including paternal UPD14). Temple syndrome is a less specific phenotype including intrauterine and postnatal growth restriction, hypotonia, feeding difficulties in infancy, truncal obesity, and small feet and hands. Temple syndrome is caused by defects or absence of paternally derived imprinting signals (including maternal UPD14)." [https://clinicalgenome.org/working-groups/dosage-sensitivity-curation/, PMID:34760887] is_a: MONDO:0019042 {source="https://clinicalgenome.org/working-groups/dosage-sensitivity-curation/"} ! multiple congenital anomalies/dysmorphic syndrome property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6125 xsd:anyURI [Term] id: MONDO:0100500 name: Mendelian neurodevelopmental disorder def: "A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome." [MONDO:patterns/hereditary] is_a: EFO:0000508 {source="https://orcid.org/0000-0002-0736-9199", source="https://orcid.org/0000-0002-1780-5230"} ! genetic disorder is_a: EFO:0010642 ! Neurodevelopmental disorder intersection_of: EFO:0010642 ! Neurodevelopmental disorder intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4789 xsd:anyURI [Term] id: MONDO:0100509 name: IFT140-related recessive ciliopathy def: "Any ciliopathy in which the cause of the disease is biallelic variants in the IFT140 gene." [PMID:22503633, PMID:23418020, PMID:26359340] synonym: "IFT140-related recessive ciliopathy" EXACT [https://clinicalgenome.org/affiliation/40072/] synonym: "retinitis pigmentosa 80" NARROW [https://clinicalgenome.org/affiliation/40072/] synonym: "short-rib thoracic dysplasia 9 with or without polydactyly" NARROW [https://clinicalgenome.org/affiliation/40072/] is_a: EFO:0003900 {source="https://clinicalgenome.org/affiliation/40072/"} ! ciliopathy property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100510 name: spondyloepimetaphyseal dysplasia def: "An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis." [DOID:0080027, https://orcid.org/0000-0001-5208-3432] synonym: "SEMD" EXACT ABBREVIATION [PMID:18328979] synonym: "spondylo-epi-(meta)-physeal dysplasia" EXACT [PMID:31633310] xref: DOID:0080027 {source="MONDO:equivalentTo"} xref: SCTID:254062008 {source="MONDO:equivalentTo"} is_a: EFO:0005571 {source="DOID:0080027"} ! osteochondrodysplasia is_a: MONDO:0018230 {source="Orphanet:253", source="PMID:31633310"} ! skeletal dysplasia property_value: exactMatch DOID:0080027 property_value: exactMatch http://identifiers.org/snomedct/254062008 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5280 xsd:anyURI [Term] id: MONDO:0100512 name: mitochondrial DNA depletion syndrome, hepatocerebral form subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:254871"} synonym: "deoxyguanosine kinase deficiency" EXACT [Orphanet:254871] synonym: "mtDNA depletion syndrome, hepatocerebral form" EXACT [Orphanet:254871] xref: MESH:C580039 {source="MONDO:equivalentTo"} xref: Orphanet:254871 {source="MONDO:equivalentTo"} xref: UMLS:C3711385 {source="Orphanet:254871", source="MONDO:equivalentTo"} xref: UMLS:CN069134 {source="MONDO:equivalentTo"} is_a: MONDO:0018158 {source="Orphanet:254871", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial DNA depletion syndrome relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare property_value: exactMatch http://identifiers.org/mesh/C580039 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3711385 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN069134 property_value: exactMatch Orphanet:254871 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5166 xsd:anyURI [Term] id: MONDO:0100514 name: familial ovarian carcinoma def: "Ovarian carcinoma that has developed in relatives of patients that have a history of ovarian carcinoma." [NCIT:C36102] synonym: "familial ovarian carcinoma" EXACT [NCIT:C36102] synonym: "familiar ovarian carcinoma" RELATED [DOID:6901] synonym: "hereditary ovarian cancer" BROAD [NCIT:C36102] synonym: "hereditary ovarian carcinoma" EXACT [MONDO:patterns/hereditary, NCIT:C36102] xref: DOID:6901 {source="MONDO:equivalentTo"} xref: NCIT:C36102 {source="DOID:6901", source="MONDO:equivalentTo"} xref: UMLS:C1333992 {source="DOID:6901", source="MONDO:equivalentTo", source="NCIT:C36102"} is_a: EFO:0001075 {source="MONDO:Redundant", source="NCIT:C36102"} ! ovarian carcinoma is_a: MONDO:0016248 ! familial ovarian cancer intersection_of: EFO:0001075 ! ovarian carcinoma intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch DOID:6901 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333992 property_value: exactMatch NCIT:C36102 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4889 xsd:anyURI [Term] id: MONDO:0100515 name: mirror movements 1 and/or agenesis of the corpus callosum def: "A familial congenital mirror movement disorder where individuals with heterozygous variants in DCC have congenital mirror movements and/or agenesis of the corpus callosum (not with or without- some individuals do not demonstrate mirror movements and only have corpus callosum defects, even within the same family)." [https://www.clinicalgenome.org/affiliation/40020/] is_a: MONDO:0016558 ! familial congenital mirror movements property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5219 xsd:anyURI [Term] id: MONDO:0100516 name: complex neurodevelopmental disorder with motor features def: "A complex neurodevelopmental disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy). Additionally, the disorder features at least one phenotype associated with motor function, including but not limited to spasticity, hypo- or hypertonia, dyskinesia, choreo-athetosis, or ataxia." [] comment: This term is similar to cerebral palsy, but this is for individuals who do not have a clinical diagnosis. There is a subset of cases that encompass both complex neurodevelopmental disorders and motor features. is_a: MONDO:0100038 {source="https://www.clinicalgenome.org/affiliation/40113/"} ! complex neurodevelopmental disorder property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100517 name: PSAP-related sphingolipidosis def: "A sphingolipidosis caused by variants in the PSAP gene. Clinical and biochemical features vary based on the location of variants within the gene and their molecular impact." [https://clinicalgenome.org/affiliation/50009/] is_a: MONDO:0019255 {source="https://clinicalgenome.org/affiliation/50009/"} ! sphingolipidosis property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100521 name: NOG-related symphalangism spectrum disorder def: "An autosomal dominant condition caused by pathogenic variants of the NOG gene, encoding the noggin protein. Five overlapping clinical syndromes associated with NOG mutations have been described; proximal symphalangism, multiple synostoses syndrome 1, tarsal-carpal coalition syndrome, stapes ankylosis with broad thumbs and toes, and brachydactyly type B2. NOG-related symphalangism spectrum disorder is a new term initially proposed by Potti et al., 2011 to encompass these disorders. NOG-SSD is characterized by proximal symphalangism, conductive deafness caused by stapes ankylosis, ocular abnormality such as hyperopia and strabismus, and characteristic facial features including a broad, tubular-shaped nose and a thin upper vermilion." [https://orcid.org/0009-0009-9147-3105, PMID:21538686] comment: Lumping the subtypes described above into one disease entity is justified by the common molecular mechanism, overlapping variants, and variable phenotypic spectrum within families and among families with the same mutation. The term NOG-SSD aids in the clinical diagnosis and evaluation of affected individuals. synonym: "NOG-SSD" EXACT ABBREVIATION [PMID:21538686] is_a: MONDO:0000151 {source="https://orcid.org/0000-0001-5208-3432"} ! symphalangism is_a: MONDO:0000426 ! autosomal dominant disease is_a: MONDO:0018454 {source="PMID:21538686", source="https://orcid.org/0009-0009-9147-3105"} ! dysostosis of genetic origin property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6338 xsd:anyURI [Term] id: MONDO:0100523 name: SPAST-related motor disorder def: "Heterozygous variants in SPAST have been reported in relation to pure spastic paraplegias (infantile, ascending), complicated or complex spastic paraplegia (with dementia, cerebellar ataxia, epilepsy, and/or peripheral neuropathy) and cerebral palsy. Age of symptom onset ranges from neonatal to advanced age with varying symptom severity," [https://clinicalgenome.org/affiliation/40006/] is_a: EFO:0009386 {source="https://clinicalgenome.org/affiliation/40006/"} ! central nervous system disease property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6279 xsd:anyURI [Term] id: MONDO:0100524 name: ASAH1-related sphingolipidosis def: "A spectrum of disorders that includes Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Both disorders are caused by mutations in the ASAH1 gene that encodes the lysosomal hydrolase that breaks down the bioactive lipid, ceramide." [PMID:30029679] {source="https://clinicalgenome.org/affiliation/40110/"} synonym: "acid ceramidase deficiency" NARROW [https://clinicalgenome.org/affiliation/40110/] is_a: MONDO:0019255 {source="PMID:30029679", source="https://clinicalgenome.org/affiliation/40110/"} ! sphingolipidosis property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5881 xsd:anyURI [Term] id: MONDO:0100526 name: breast-ovarian cancer, familial, susceptibility to xref: OMIMPS:604370 {source="MONDO:equivalentTo"} is_a: MONDO:0020573 {source="OMIMPS:604370"} ! inherited disease susceptibility property_value: exactMatch https://omim.org/phenotypicSeries/PS604370 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/pull/6628 xsd:anyURI [Term] id: MONDO:0600001 name: glutaminase deficiency def: "Glutaminase deficiency is characterized by refractory seizures, respiratory failure, brain abnormalities and death in the neonatal period, though milder cases with spastic ataxia-dysarthria have also been reported. This condition is caused by mutations in the glutaminase (GLS) gene." [PMID:30575854, PMID:30970188] subset: mondo_rare {source="PMID:30575854", source="PMID:30970188"} synonym: "glutaminase deficiency" EXACT [] is_a: MONDO:0017352 {source="PMID:30575854", source="PMID:30970188"} ! disorder of glutamine metabolism relationship: has_characteristic MONDO:0021136 {source="PMID:30575854", source="PMID:30970188"} ! rare property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5460-8025 [Term] id: MONDO:0600002 name: hemorrhagic fever def: "An infectious disease caused by certain viruses or bacteria that can damage the walls of tiny blood vessels, making them leak, and can hamper the blood's ability to clot and cause severe, life-threatening illness." [https://science.jrank.org/pages/3289/Hemorrhagic-Fevers-Diseases.html, https://www.mayoclinic.org/diseases-conditions/viral-hemorrhagic-fevers/symptoms-causes/syc-20351260?utm_source=Google&utm_medium=abstract&utm_content=Viral-hemorrhagic-fever&utm_campaign=Knowledge-panel] synonym: "haemorrhagic fever" EXACT [http://www.emro.who.int/health-topics/haemorrhagic-fevers-viral/] xref: NCIT:C36169 {source="MONDO:equivalentTo"} is_a: EFO:0005741 {source="https://science.jrank.org/pages/3289/Hemorrhagic-Fevers-Diseases.html", source="https://www.mayoclinic.org/diseases-conditions/viral-hemorrhagic-fevers/symptoms-causes/syc-20351260?utm_source=Google&utm_medium=abstract&utm_content=Viral-hemorrhagic-fever&utm_campaign=Knowledge-panel"} ! infectious disease property_value: exactMatch NCIT:C36169 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5460-8025 [Term] id: MONDO:0600003 name: bacterial hemorrhagic fever def: "A hemorrhagic fever caused by bacteria. Bacterial hemorrhagic disease is rare. One example of a bacterial hemorrhagic disease is scrub typhus." [https://science.jrank.org/pages/3289/Hemorrhagic-Fevers-Diseases.html] subset: mondo_rare {source="https://science.jrank.org/pages/3289/Hemorrhagic-Fevers-Diseases.html"} synonym: "bacterial haemorrhagic fever" EXACT [https://science.jrank.org/pages/3289/Hemorrhagic-Fevers-Diseases.html] synonym: "haemorrhagic fever, bacterial" EXACT [https://science.jrank.org/pages/3289/Hemorrhagic-Fevers-Diseases.html] is_a: EFO:0000771 ! bacterial disease is_a: MONDO:0600002 {source="https://science.jrank.org/pages/3289/Hemorrhagic-Fevers-Diseases.html"} ! hemorrhagic fever relationship: has_characteristic MONDO:0021136 {source="https://science.jrank.org/pages/3289/Hemorrhagic-Fevers-Diseases.html"} ! rare [Term] id: MONDO:0600009 name: severe hypophosphatasia def: "Severe hypophosphatasia is a rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization. Individuals often present with these features in infancy or in the perinatal period." [https://www.clinicalgenome.org/affiliation/40065/, PMID:32973344] is_a: MONDO:0018570 {source="PMID:32973344", source="https://www.clinicalgenome.org/affiliation/40065/"} ! hypophosphatasia property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5460-8025 [Term] id: MONDO:0600011 name: mild hypophosphatasia def: "Mild hypophosphatasia is the most common form of hypophosphatasia characterized by low alkaline phosphatase, unspecific clinical signs, and typically presents in individuals in adulthood." [https://www.clinicalgenome.org/affiliation/40065/, PMID:32973344] synonym: "attenuated hypophosphatasia" EXACT [https://www.clinicalgenome.org/affiliation/40065/, PMID:32973344] is_a: MONDO:0018570 {source="PMID:32973344", source="https://www.clinicalgenome.org/affiliation/40065/"} ! hypophosphatasia property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5460-8025 [Term] id: MONDO:0600023 name: idiopathic inflammatory myopathy def: "Idiopathic form of inflammatory myopathy." [MONDO:patterns/idiopathic] synonym: "idiopathic myositis" EXACT [https://orcid.org/0000-0001-5208-3432] xref: NCIT:C116796 {source="MONDO:equivalentTo"} xref: SCTID:702380008 {source="MONDO:equivalentTo"} xref: UMLS:C0751356 {source="MONDO:equivalentTo"} is_a: EFO:0000783 ! myositis property_value: exactMatch http://identifiers.org/snomedct/702380008 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751356 property_value: exactMatch NCIT:C116796 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5460-8025 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3143 xsd:anyURI [Term] id: MONDO:0600030 name: B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) def: "A B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. It occurs in children and less often in adults." [NCIT:C80347] synonym: "B acute lymphoblastic leukaemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)" EXACT OMO:0003005 [] synonym: "B acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)" EXACT [NCIT:C80347] synonym: "B lymphoblastic leukaemia lymphoma with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "B lymphoblastic leukemia lymphoma with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) (morphologic abnormality)" EXACT [SCTID:450956008] synonym: "B-acute lymphoblastic leukaemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)" EXACT OMO:0003005 [] synonym: "B-acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)" EXACT [NCIT:C80347] synonym: "B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)" EXACT [Orphanet:585956] synonym: "B-lymphoblastic leukemia/lymphoma with TCF3-PBX1" EXACT [DOID:0080649] xref: DOID:0080649 {source="NCIT:C80347", source="MONDO:equivalentTo"} xref: NCIT:C80347 {source="MONDO:equivalentTo"} xref: Orphanet:585956 {source="MONDO:equivalentTo"} xref: SCTID:450956008 {source="MONDO:equivalentTo"} is_a: EFO:0000094 {source="https://orcid.org/0000-0001-5208-3432"} ! B-cell acute lymphoblastic leukemia property_value: exactMatch DOID:0080649 property_value: exactMatch http://identifiers.org/snomedct/450956008 property_value: exactMatch NCIT:C80347 property_value: exactMatch Orphanet:585956 property_value: gwas:trait "true" xsd:boolean property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5460-8025 [Term] id: MONDO:0700000 name: ALG9-associated autosomal dominant polycystic kidney disease def: "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the ALG9 gene." [MONDO:patterns/disease_series_by_gene] synonym: "ALG9 autosomal dominant polycystic kidney disease" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "ALG9 related autosomal dominant polycystic kidney disease" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "ALG9-associated ADPKD" EXACT [https://search.clinicalgenome.org/kb/gene-validity/CGGV\:assertion_38d817af-0a28-4453-a00f-ffccadbd9936-2020-08-28T153435.272Z] synonym: "ALG9-associated autosomal dominant polycystic kidney disease" EXACT [] synonym: "autosomal dominant polycystic kidney disease caused by mutation in ALG9" EXACT [MONDO:patterns/disease_series_by_gene] is_a: EFO:1001496 {source="PMID:31395617", source="https://github.com/monarch-initiative/mondo/issues/2726"} ! Autosomal dominant polycystic kidney disease property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700002 name: ATP1A3-associated neurological disorder def: "Any neurological disorder in which the cause of the disease is a mutation in the ATP1A3." [MONDO:patterns/disease_series_by_gene, PMID:20301295, PMID:31178018, PMID:33762331] synonym: "ATP1A3 neurological disorder" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "ATP1A3 related neurological disorder" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "neurological disorder caused by mutation in ATP1A3" EXACT [MONDO:patterns/disease_series_by_gene] is_a: EFO:0000618 {xref="PMID:20301295", xref="PMID:31178018", xref="PMID:33762331"} ! nervous system disease property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700003 name: obstetric disorder def: "Disorder associated with pregnancy, childbirth, and puerperium." [https://orcid.org/0000-0002-4142-7153] subset: harrisons_view subset: rare_grouping is_a: EFO:0000408 ! disease union_of: EFO:0009682 ! pregnancy disorder union_of: EFO:0009683 ! puerperal disorder property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700004 name: idiopathic vs non-idiopathic def: "A disease characteristic in which the cause of the disease is known or unknown." [https://github.com/monarch-initiative/mondo/issues/3177, https://orcid.org/0000-0002-4142-7153] is_a: EFO:0009813 {source="https://github.com/monarch-initiative/mondo/issues/3177", source="https://orcid.org/0000-0002-4142-7153"} ! disease characteristic property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700005 name: idiopathic def: "A disease characteristic in which the disease has an uncertain or unknown cause." [https://github.com/monarch-initiative/mondo/issues/3177, https://orcid.org/0000-0002-4142-7153] is_a: MONDO:0700004 {source="https://github.com/monarch-initiative/mondo/issues/3177", source="https://orcid.org/0000-0002-4142-7153"} ! idiopathic vs non-idiopathic property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700007 name: idiopathic disease def: "A disease or disorder for which the cause is of uncertain or unknown." [https://orcid.org/0000-0002-4142-7153, MONDO:patterns/idiopathic] synonym: "idiopathic disorder" EXACT [https://orcid.org/0000-0002-4142-7153] is_a: EFO:0000408 ! disease relationship: has_characteristic MONDO:0700005 ! idiopathic property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3169 xsd:anyURI [Term] id: MONDO:0700008 name: chromosome 1 disorder def: "Chromosomal disorder in which chromosome 1 is affected." [MONDO:patterns/chromosome_type] is_a: MONDO:0020049 ! autosomal anomaly property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700009 name: chromosome 2 disorder def: "Chromosomal disorder in which chromosome 2 is affected." [MONDO:patterns/chromosome_type] is_a: MONDO:0020049 ! autosomal anomaly property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700010 name: chromosome 3 disorder def: "Chromosomal disorder in which chromosome 3 is affected." [MONDO:patterns/chromosome_type] is_a: MONDO:0020049 ! autosomal anomaly property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700011 name: chromosome 4 disorder def: "Chromosomal disorder in which chromosome 4 is affected." [MONDO:patterns/chromosome_type] is_a: MONDO:0020049 ! autosomal anomaly property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700012 name: chromosome 5 disorder def: "Chromosomal disorder in which chromosome 5 is affected." [MONDO:patterns/chromosome_type] is_a: MONDO:0020049 ! autosomal anomaly property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700013 name: chromosome 6 disorder def: "Chromosomal disorder in which chromosome 6 is affected." [MONDO:patterns/chromosome_type] is_a: MONDO:0020049 ! autosomal anomaly property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700014 name: chromosome 7 disorder def: "Chromosomal disorder in which chromosome 7 is affected." [MONDO:patterns/chromosome_type] is_a: MONDO:0020049 ! autosomal anomaly property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700015 name: chromosome 8 disorder def: "Chromosomal disorder in which chromosome 8 is affected." [MONDO:patterns/chromosome_type] synonym: "anomaly of chromosome pair 8" EXACT [SCTID:48082007, UMLS:C0265418] xref: SCTID:48082007 {source="MONDO:equivalentTo"} xref: UMLS:C0265418 {source="MONDO:equivalentTo"} is_a: MONDO:0020049 ! autosomal anomaly property_value: exactMatch http://identifiers.org/snomedct/48082007 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265418 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700016 name: chromosome 9 disorder def: "Chromosomal disorder in which chromosome 9 is affected." [MONDO:patterns/chromosome_type] is_a: MONDO:0020049 ! autosomal anomaly property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700017 name: chromosome 10 disorder def: "Chromosomal disorder in which chromosome 10 is affected." [MONDO:patterns/chromosome_type] is_a: MONDO:0020049 ! autosomal anomaly property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700018 name: chromosome 11 disorder def: "Chromosomal disorder in which chromosome 11 is affected." [MONDO:patterns/chromosome_type] is_a: MONDO:0020049 ! autosomal anomaly property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700019 name: chromosome 12 disorder def: "Chromosomal disorder in which chromosome 12 is affected." [MONDO:patterns/chromosome_type] is_a: MONDO:0020049 ! autosomal anomaly property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700020 name: chromosome 13 disorder def: "Chromosomal disorder in which chromosome 13 is affected." [MONDO:patterns/chromosome_type] is_a: MONDO:0020049 ! autosomal anomaly property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700021 name: chromosome 14 disorder def: "Chromosomal disorder in which chromosome 14 is affected." [MONDO:patterns/chromosome_type] is_a: MONDO:0020049 ! autosomal anomaly property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700022 name: chromosome 15 disorder def: "Chromosomal disorder in which chromosome 15 is affected." [MONDO:patterns/chromosome_type] is_a: MONDO:0020049 ! autosomal anomaly property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700023 name: chromosome 16 disorder def: "Chromosomal disorder in which chromosome 16 is affected." [MONDO:patterns/chromosome_type] is_a: MONDO:0020049 ! autosomal anomaly property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700024 name: chromosome 19 disorder def: "Chromosomal disorder in which chromosome 19 is affected." [MONDO:patterns/chromosome_type] is_a: MONDO:0020049 ! autosomal anomaly property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700025 name: chromosome 20 disorder def: "Chromosomal disorder in which chromosome 20 is affected." [MONDO:patterns/chromosome_type] is_a: MONDO:0020049 ! autosomal anomaly property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700026 name: chromosome 22 disorder def: "Chromosomal disorder in which chromosome 22 is affected." [MONDO:patterns/chromosome_type] is_a: MONDO:0020049 ! autosomal anomaly property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700027 name: chromosome X disorder def: "Chromosomal disorder in which chromosome X is affected." [MONDO:patterns/chromosome_type] is_a: MONDO:0020058 ! gonosome anomaly property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700028 name: chromosome Y disorder def: "Chromosomal disorder in which chromosome Y is affected." [MONDO:patterns/chromosome_type] is_a: MONDO:0020058 ! gonosome anomaly property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700029 name: partial duplication of chromosome 13 is_a: MONDO:0000762 ! syndrome caused by partial chromosomal duplication is_a: MONDO:0700020 ! chromosome 13 disorder property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700031 name: mosaic trisomy 18 def: "Trisomy 18 in which the presence of an extra copy of chromosome 18 is present only in some of the cells of the organism." [https://orcid.org/0000-0002-4142-7153, PMID:27087248] is_a: MONDO:0018071 ! trisomy 18 intersection_of: MONDO:0018071 ! trisomy 18 intersection_of: has_characteristic MONDO:0700062 ! mosaic relationship: has_characteristic MONDO:0700062 ! mosaic property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700034 name: mosaic trisomy 13 def: "Trisomy 13 in which the presence of an extra copy of chromosome 13 is present only in some of the cells of the organism." [doi:10.1186/1753-6561-9-S1-A51, https://orcid.org/0000-0002-4142-7153] synonym: "trisomy 13 mosaicism" EXACT [doi:10.1186/1753-6561-9-S1-A51] is_a: MONDO:0018068 ! trisomy 13 intersection_of: MONDO:0018068 ! trisomy 13 intersection_of: has_characteristic MONDO:0700062 ! mosaic relationship: has_characteristic MONDO:0700062 ! mosaic property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700043 name: syndrome caused by partial chromosomal duplication of the short arm of chromosome 9 is_a: MONDO:0016930 {source="https://orcid.org/0000-0002-4142-7153"} ! partial trisomy/tetrasomy of chromosome 9 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700049 name: infectious disease, non-human animal def: "Infectious disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease] is_a: EFO:0005932 ! animal disease property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch MONDO:0005550 [Term] id: MONDO:0700053 name: viral infectious disease, non-human animal def: "Viral infectious disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease] is_a: MONDO:0700049 {source="https://orcid.org/0000-0001-5208-3432"} ! infectious disease, non-human animal property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch MONDO:0005108 [Term] id: MONDO:0700055 name: KIF1A related neurological disorder def: "KIF1A-associated neurological disorder (KAND) encompasses a group of rare neurodegenerative conditions caused by variants in KIF1A" [https://orcid.org/0000-0002-8134-1207, PMID:3388045] synonym: "KAND" EXACT ABBREVIATION [https://orcid.org/0000-0002-8134-1207] synonym: "KIF1A neurological disorder" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "neurological disorder caused by mutation in KIF1A" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "neurological disorder caused by variation in KIF1A" EXACT [MONDO:patterns/disease_series_by_gene] xref: PMID:37259299 is_a: EFO:0000618 {source="PMID:3388045", source="https://orcid.org/0000-0002-8134-1207"} ! nervous system disease property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4694 xsd:anyURI [Term] id: MONDO:0700057 name: neurological pain disorder def: "A nervous system disorder that has pain as a major feature." [https://orcid.org/0000-0002-4142-7153] synonym: "neurologic pain syndrome" EXACT [https://orcid.org/0000-0002-4142-7153] synonym: "neurological pain disease" EXACT [https://orcid.org/0000-0002-4142-7153] is_a: EFO:0000618 {source="https://orcid.org/0000-0002-4142-7153"} ! nervous system disease property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700061 name: mosaic vs complete def: "A disease characteristic in which the cause of the disease is present in some of the cells of the organism, or in all the cells of the organism." [https://orcid.org/0000-0002-4142-7153] is_a: EFO:0009813 ! disease characteristic property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700062 name: mosaic def: "A disease characteristic in which the cause of the disease is present in some of the cells of the organism." [https://medlineplus.gov/ency/article/001317.htm, PMID:7847381] is_a: MONDO:0700061 ! mosaic vs complete property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700064 name: aneuploidy def: "Chromosomal disorder consisting of the presence a chromosomal abnormality in which there is an addition or loss of chromosomes within a set." [https://orcid.org/0000-0002-4142-7153, NCIT:C2873, PMID:26126276] synonym: "chromosome number anomaly" EXACT [https://orcid.org/0000-0002-4142-7153] xref: MESH:D000782 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: NCIT:C2873 {source="MONDO:equivalentTo"} is_a: MONDO:0019040 ! chromosomal disorder property_value: exactMatch http://identifiers.org/mesh/D000782 property_value: exactMatch NCIT:C2873 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700065 name: trisomy def: "A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number." [NCIT:C3421] synonym: "chromosomal triplication" RELATED [GARD:0006065] xref: MESH:D014314 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: NCIT:C3421 {source="MONDO:relatedTo"} is_a: MONDO:0700064 {source="https://orcid.org/0000-0002-4142-7153"} ! aneuploidy property_value: exactMatch http://identifiers.org/mesh/D014314 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 property_value: relatedMatch NCIT:C3421 [Term] id: MONDO:0700066 name: myopathy caused by variation in FKRP def: "Any myopathy in which the cause of the disease is a variation in the FKRP gene." [MONDO:patterns/disease_series_by_gene] synonym: "FKRP myopathy" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "FKRP-related myopathy" EXACT [https://clinicalgenome.org/affiliation/50061/, MONDO:patterns/disease_series_by_gene] synonym: "myopathy caused by mutation in FKRP" EXACT [MONDO:patterns/disease_series_by_gene] is_a: EFO:0004145 ! myopathy is_a: MONDO:0016157 ! qualitative or quantitative defects of fukutin is_a: MONDO:0700223 ! hereditary skeletal muscle disorder property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700067 name: myopathy caused by variation in FKTN def: "Any myopathy in which the cause of the disease is a variation in the FKTN gene." [MONDO:patterns/disease_series_by_gene] synonym: "FKTN myopathy" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "FKTN-related myopathy" EXACT [https://clinicalgenome.org/affiliation/50061/, MONDO:patterns/disease_series_by_gene] synonym: "myopathy caused by mutation in FKTN" EXACT [MONDO:patterns/disease_series_by_gene] is_a: EFO:0004145 ! myopathy is_a: MONDO:0016155 {source="https://clinicalgenome.org/affiliation/50061/"} ! qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan is_a: MONDO:0700223 ! hereditary skeletal muscle disorder property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700068 name: myopathy caused by variation in POMGNT1 def: "Any myopathy in which the cause of the disease is a variation in the POMGNT1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "myopathy caused by mutation in POMGNT1" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "POMGNT1 myopathy" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "POMGNT1-related myopathy" EXACT [https://clinicalgenome.org/affiliation/50061/, MONDO:patterns/disease_series_by_gene] is_a: EFO:0004145 ! myopathy is_a: MONDO:0016182 {source="MONDO:Redundant", source="Orphanet:209024"} ! qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase is_a: MONDO:0700223 ! hereditary skeletal muscle disorder property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700069 name: myopathy caused by variation in POMGNT2 def: "Any myopathy in which the cause of the disease is a variation in the POMGNT2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "myopathy caused by mutation in POMGNT2" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "POMGNT2 myopathy" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "POMGNT2-related myopathy" EXACT [https://clinicalgenome.org/affiliation/50061/, MONDO:patterns/disease_series_by_gene] is_a: EFO:0004145 ! myopathy is_a: MONDO:0017741 ! disorder of protein O-glycosylation is_a: MONDO:0700223 ! hereditary skeletal muscle disorder property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700070 name: myopathy caused by variation in POMT1 def: "Any myopathy in which the cause of the disease is a variation in the POMT1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "myopathy caused by mutation in POMT1" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "POMT1 myopathy" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "POMT1-related myopathy" EXACT [https://clinicalgenome.org/affiliation/50061/, MONDO:patterns/disease_series_by_gene] is_a: EFO:0004145 {source="https://orcid.org/0000-0001-5208-3432"} ! myopathy is_a: MONDO:0016155 {source="https://clinicalgenome.org/affiliation/50061/"} ! qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan is_a: MONDO:0700223 ! hereditary skeletal muscle disorder property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700071 name: myopathy caused by variation in POMT2 def: "Any myopathy in which the cause of the disease is a variation in the POMT2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "myopathy caused by mutation in POMT2" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "POMT2 myopathy" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "POMT2-related myopathy" EXACT [https://clinicalgenome.org/affiliation/50061/, MONDO:patterns/disease_series_by_gene] is_a: EFO:0004145 {source="https://orcid.org/0000-0001-5208-3432"} ! myopathy is_a: MONDO:0016155 {source="https://clinicalgenome.org/affiliation/50061/"} ! qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan is_a: MONDO:0700223 ! hereditary skeletal muscle disorder property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700072 name: Rhabdoviridae infectious disease, non-human animal def: "Rhabdoviridae infectious disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease] is_a: MONDO:0700053 ! viral infectious disease, non-human animal property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch MONDO:0005944 [Term] id: MONDO:0700075 name: congenital muscular dystrophy caused by variation in POMGNT2 def: "Any congenital muscular dystrophy in which the cause of the disease is a variation in the POMGNT2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "congenital muscular dystrophy caused by mutation in POMGNT2" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "congenital muscular dystrophy-POMGNT2 related" EXACT [https://clinicalgenome.org/affiliation/50061/, MONDO:patterns/disease_series_by_gene] is_a: MONDO:0019950 ! congenital muscular dystrophy is_a: MONDO:0700069 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in POMGNT2 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4069 xsd:anyURI [Term] id: MONDO:0700080 name: EPHB4-associated vascular malformation spectrum def: "Any vascular malformation in which the cause of the disease is a variation in the EPHB4 gene." [MONDO:patterns/disease_series_by_gene] comment: Variants in the EPHB4 gene have been observed in individuals with capillary malformation-arteriovenous malformation (CM-AVM) (characterized by the presence of multiple small capillary malformations, mostly on the face and limbs, +/- other arteriovenous malformations or arteriovenous fistulas) as well as with lymphatic malformations, ranging in severity from severe non-immune hydrops fetalis to varicose veins and/or subclinical lymphatic anomalies, even within the same family (PMID:27400125). Evidence suggests that both of these presentations are caused by loss of function, though the exact mechanism by which this occurs is variable; some variants demonstrate reduced expression and defects in subcellular localization with aggregates, others have normal expression levels but reduced tyrosine kinase activity) (PMID:33864021). It has been hypothesized that the different presentations may be due to differences in forward vs. reverse signaling defects, but this remains to be elucidated. [PMID:27400125, PMID:2868770, PMID:30760892, PMID:33864021] is_a: EFO:0006888 {source="https://www.clinicalgenome.org/affiliation/40106/"} ! vascular malformation property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4941 xsd:anyURI [Term] id: MONDO:0700084 name: myopathy caused by variation in GMPPB def: "Any myopathy in which the cause of the disease is a variation in the GMPPB gene." [MONDO:patterns/disease_series_by_gene] synonym: "GMPPB-related myopathy" EXACT [https://clinicalgenome.org/affiliation/50061/] synonym: "myopathy caused by mutation in GMPPB" EXACT [MONDO:patterns/disease_series_by_gene] is_a: EFO:0004145 ! myopathy is_a: MONDO:0016155 {source="https://clinicalgenome.org/affiliation/50061/"} ! qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan is_a: MONDO:0700223 ! hereditary skeletal muscle disorder property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700085 name: pentasomy def: "A chromosomal disorder consisting of the presence of three chromosomes of the same type in addition to the normal diploid number." [https://orcid.org/0000-0002-4142-7153] is_a: MONDO:0700064 {source="https://orcid.org/0000-0002-4142-7153"} ! aneuploidy property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700086 name: uniparental disomy def: "A condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. It results in developmental abnormalities or rare recessive disorders." [NCIT:C85215] xref: MESH:D024182 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: NCIT:C85215 {source="MONDO:equivalentTo"} is_a: MONDO:0019040 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal disorder property_value: exactMatch http://identifiers.org/mesh/D024182 property_value: exactMatch NCIT:C85215 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700087 name: Usher syndrome type 1B def: "Usher syndrome in which the cause of the disease is a mutation in the MYO7A gene" [MONDO:patterns/disease_series_by_gene] synonym: "Usher syndrome, type 1B" EXACT [OMIM:276900, OMIM:genemap2] xref: MESH:C536485 {source="MONDO:equivalentTo"} xref: OMIM:276900 {source="MONDO:equivalentTo"} is_a: MONDO:0010168 {source="Orphanet:231169"} ! Usher syndrome type 1 property_value: exactMatch http://identifiers.org/mesh/C536485 property_value: exactMatch https://omim.org/entry/276900 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI [Term] id: MONDO:0700088 name: paroxysmal nonkinesigenic dyskinesia def: "Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia, characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation." [Orphanet:98810] synonym: "DYT-MR-1" RELATED [GARD:0008722] synonym: "paroxysmal non-kinesigenic dyskinesia" RELATED [Orphanet:98810] synonym: "Paroxysomal nonkinesigenic dyskinesia" RELATED [GARD:0008722] synonym: "Paroxystic non-kinesigenic choreoathetosis" EXACT [Orphanet:98810] xref: Orphanet:98810 {source="MONDO:equivalentTo"} is_a: MONDO:0015427 {source="Orphanet:98810"} ! paroxysmal dyskinesia property_value: exactMatch Orphanet:98810 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700089 name: paroxysmal nonkinesigenic dyskinesia 1 def: "Paroxysmal nonkinesigenic dyskinesia in which the cause of the disease is a mutation in the PNKD gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:98810"} synonym: "choreoathetosis, familial paroxysmal" RELATED [OMIM:118800] synonym: "choreoathetosis, nonkinesigenic" RELATED [OMIM:118800] synonym: "dystonia 8" RELATED [OMIM:118800] synonym: "mount-reback syndrome" RELATED [OMIM:118800] synonym: "paroxysmal dyskinesia caused by mutation in PNKD" EXACT [MONDO:design_pattern] synonym: "paroxysmal dystonic choreoathetosis" RELATED [OMIM:118800] synonym: "paroxysmal nonkinesigenic dyskinesia 1" EXACT [MONDO:0007326, MONDO:Lexical, OMIM:118800] synonym: "paroxysmal nonkinesigenic dyskinesia type 1" EXACT [DOID:0090049, MONDORULE:1, OMIM:118800] synonym: "PNKD paroxysmal dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "PNKD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:118800] synonym: "PxMD-PNKD" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155] xref: DOID:0090049 {source="MONDO:equivalentTo"} xref: MedDRA:10065657 {source="Orphanet:98810", source="Orphanet:98810/e"} xref: MedDRA:10065658 {source="Orphanet:98810", source="Orphanet:98810/e"} xref: OMIM:118800 {source="Orphanet:98810", source="MONDO:equivalentTo", source="DOID:0090049", source="Orphanet:98810/e"} is_a: MONDO:0700088 {source="Orphanet:98810"} ! paroxysmal nonkinesigenic dyskinesia property_value: closeMatch http://identifiers.org/meddra/10065657 property_value: closeMatch http://identifiers.org/meddra/10065658 property_value: exactMatch DOID:0090049 property_value: exactMatch https://omim.org/entry/118800 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700091 name: ring chromosome disorder def: "Chromosomal disorder in which the chromosomal anomaly consists of the presence of a ring chromosome. A ring chromosome is a chromosome whose arms have fused together to form a ring, often with the loss of the ends of the chromosome." [https://orcid.org/0000-0002-4142-7153, NCIT:C3360] synonym: "supernumerary circular chromosome" EXACT [NCIT:C3360] xref: MESH:D012303 {source="MONDO:equivalentTo"} xref: NCIT:C3360 {source="MONDO:equivalentTo"} xref: UMLS:C0035639 {source="MONDO:equivalentTo"} is_a: MONDO:0019040 ! chromosomal disorder property_value: exactMatch http://identifiers.org/mesh/D012303 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035639 property_value: exactMatch NCIT:C3360 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700098 name: neoplasm, non-human animal is_a: MONDO:1011305 ! cancer or benign tumor, non-human animal property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch MONDO:0005070 [Term] id: MONDO:0700101 name: carcinoma, non-human animal is_a: MONDO:0700098 ! neoplasm, non-human animal property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch MONDO:0004993 [Term] id: MONDO:0700102 name: lymphoma, non-human animal is_a: MONDO:0700098 ! neoplasm, non-human animal is_a: MONDO:1011319 ! hematologic disorder, non-human animal property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch MONDO:0005062 [Term] id: MONDO:0700104 name: respiratory system disorder, non-human animal def: "Respiratory system disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease] is_a: EFO:0005932 ! animal disease property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch MONDO:0005087 [Term] id: MONDO:0700105 name: difference of sexual differentiation, non-human animal is_a: MONDO:1011310 ! developmental defect during embryogenesis, non-human animal is_a: MONDO:1011317 ! endocrine system disorder, non-human animal is_a: MONDO:1011354 ! reproductive system disorder, non-human animal property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch MONDO:0002145 [Term] id: MONDO:0700112 name: heterotaxy, visceral, 5, autosomal def: "Any visceral hetetotaxy in which the cause of the disease is a mutation in the NODAL gene." [MONDO:patterns/disease_series_by_gene] synonym: "HTX5" EXACT ABBREVIATION [OMIM:270100] synonym: "NODAL visceral heterotaxy" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "situs inversus viscerum" EXACT DEPRECATED [OMIM:270100] synonym: "SIV" EXACT DEPRECATED [OMIM:270100] synonym: "visceral heterotaxy caused by mutation in NODAL" EXACT [MONDO:patterns/disease_series_by_gene] xref: OMIM:270100 {source="MONDO:equivalentTo"} is_a: MONDO:0018677 {source="OMIM:270100"} ! visceral heterotaxy property_value: exactMatch https://omim.org/entry/270100 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/2826 xsd:anyURI [Term] id: MONDO:0700116 name: microcephaly with lissencephaly and/or hydranencephaly def: "A brain disorder caused by biallelic variants in NDE1 that is characterized by extreme microcephaly (typically head circumference of more than 10 standard deviations (SD) below the mean), profound motor and intellectual disability, spasticity, and incomplete cerebral formation. Radiologic studies demonstrate overt microcephaly with cortical dysgenesis ranging from simplification to pachygyria/lissencephaly to hydranencephaly. Agenesis of the corpus callosum as well as hypoplasia of the brainstem and cerebellum are typically present." [PMID:21529751, PMID:22526350] is_a: MONDO:0001149 {source="https://www.clinicalgenome.org/affiliation/40020/"} ! microcephaly property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5582 xsd:anyURI [Term] id: MONDO:0700117 name: SLC6A3-related dopamine transporter deficiency syndrome def: "A complex movement disorder characterized by tremor, rigidity, bradykinesia, chorea, reduced facial expression, and Parkinsonism-dystonia. This disease is caused by loss of function variants in the SLC6A3 gene, which impair the dopamine transporter protein. The onset of this disease ranges from infancy to adulthood." [https://clinicalgenome.org/affiliation/40097/, PMID:21112253, PMID:24613933, PMID:28749637] subset: gard_rare {source="GARD:0010484"} synonym: "Dopamine transporter deficiency syndrome" EXACT [GARD:0010484] synonym: "DTDS" EXACT ABBREVIATION [GARD:0010484] is_a: EFO:0004280 {source="PMID:21112253", source="PMID:24613933", source="PMID:28749637", source="https://clinicalgenome.org/affiliation/40097/"} ! movement disorder property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5523 xsd:anyURI property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10484/infantile-parkinsonism-dystonia xsd:anyURI {source="GARD:0010484"} [Term] id: MONDO:0700120 name: BAFopathy def: "Disorder caused by mutations in the various subunits composing the BAF complex." [PMID:30580808] is_a: EFO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic disorder property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/3939 xsd:anyURI [Term] id: MONDO:0700124 name: chromosome 21 disorder def: "Chromosomal disorder in which chromosome 21 is affected." [MONDO:patterns/chromosome_type] is_a: MONDO:0020049 ! autosomal anomaly property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700125 name: chromosome 18 disorder def: "Chromosomal disorder in which chromosome 18 is affected." [MONDO:patterns/chromosome_type] is_a: MONDO:0020049 ! autosomal anomaly property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] id: MONDO:0700170 name: equine neoplasm def: "Neoplasm that occurs in a horse." [MONDO:patterns/nonhuman_disease] is_a: MONDO:0024950 {source="https://orcid.org/0000-0002-4142-7153"} ! horse disease is_a: MONDO:0700098 ! neoplasm, non-human animal property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch MONDO:0005070 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5252 xsd:anyURI [Term] id: MONDO:0700203 name: pestivirus infectious disease, non-human animal def: "Pestivirus infectious disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease] is_a: MONDO:0700053 ! viral infectious disease, non-human animal property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch MONDO:0005909 [Term] id: MONDO:0700204 name: trichostrongyloidiasis, non-human animal def: "Trichostrongyloidiasis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease] is_a: MONDO:0700209 ! Strongylida infectious disease, non-human animal property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch MONDO:0005994 [Term] id: MONDO:0700209 name: Strongylida infectious disease, non-human animal def: "Strongylida infectious disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease] is_a: MONDO:0025082 ! helminthiasis, animal property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch MONDO:0005973 [Term] id: MONDO:0700220 name: disease related to transplantation def: "Disease that occurs as a consequence of immunosuppression in a recipient of a solid organ or bone marrow transplant, or as a consequence of the transplantation." [https://orcid.org/0000-0001-7151-1615] xref: Orphanet:306644 {source="MONDO:equivalentTo"} xref: UMLS:C1998172 {source="MONDO:equivalentTo"} is_a: EFO:0000408 ! disease property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1998172 property_value: exactMatch Orphanet:306644 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5525 xsd:anyURI [Term] id: MONDO:0700222 name: disease related to hematopoietic stem cell transplant def: "Disease that occurs as a consequence of immunosuppression in a recipient of a hematopoietic stem cell transplant, or as a consequence of the transplantation." [https://orcid.org/0000-0001-7151-1615] is_a: MONDO:0700220 {source="https://orcid.org/0000-0001-7151-1615"} ! disease related to transplantation property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5525 xsd:anyURI [Term] id: MONDO:0700223 name: hereditary skeletal muscle disorder def: "An instance of muscle tissue disorder that is caused by an inherited genomic modification in an individual." [MONDO:patterns/hereditary] synonym: "genetic muscle disease" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "genetic muscle disorder" EXACT [] synonym: "genetic muscular disease" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "genetic muscular disorder" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "hereditary muscle disorder" EXACT [https://orcid.org/0000-0001-5208-3432] is_a: EFO:0000508 {source="https://orcid.org/0000-0002-0736-9199"} ! genetic disorder is_a: MONDO:0020120 {source="https://orcid.org/0000-0002-0736-9199", source="https://orcid.org/0000-0002-1780-5230"} ! skeletal muscle disorder intersection_of: MONDO:0020120 ! skeletal muscle disorder intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5658 xsd:anyURI [Term] id: MONDO:0700225 name: hereditary gallbladder disorder def: "An instance of gallbladder disorder that is caused by an inherited genomic modification in an individual." [MONDO:patterns/hereditary] xref: OMIMPS:600803 {source="MONDO:equivalentTo"} is_a: EFO:0003832 {source="https://orcid.org/0000-0002-4142-7153"} ! gallbladder disease is_a: MONDO:0015509 ! hereditary biliary tract disease intersection_of: EFO:0003832 ! gallbladder disease intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch https://omim.org/phenotypicSeries/PS600803 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6008 xsd:anyURI [Term] id: MONDO:0800063 name: primordial dwarfism and slender bone disorder def: "A skeletal dysplsia characterized by primordial dwarfism, an extreme growth deficiency disorder that has its onset during embryonic development and persists throughout life and slender bone disorder, a heterogeneous group of neonatal dwarfism syndromes, usually of unknown etiology, associated with gracile (thin) bones, multiple fractures, and prenatal or early postnatal death." [PMID:19006220, PMID:25490023, PMID:31633310] is_a: MONDO:0019699 {source="PMID:31633310"} ! slender bone dysplasia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0800064 name: osteogenesis imperfecta and a reduction of bone mineral density. def: "A skeletal dysplasia characterized by osteogenesis imperfecta and decreased bone density." [HP:0004349, https://orcid.org/0000-0001-5208-3432, PMID:31633310] xref: HP:0004349 {source="MONDO:otherHierarchy"} is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia is_a: MONDO:0019019 {source="PMID:31633310"} ! osteogenesis imperfecta property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0800066 name: polydactyly-syndactyly-triphalangism def: "Any skeletal dysplasia that is characterizedby polydactyly, syndactyly and triphalangism, where a digit has three phalanges instead of two." [https://orcid.org/0000-0001-5208-3432, PMID:19125433, PMID:31633310] is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia is_a: MONDO:0021651 ! synpolydactyly property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0800075 name: dysostosis with predominant vertebral with and without costal involvement def: "Any dysostosis that involves the vertebrae, with or without involvement of the the ribs or the upper sides of the body." [https://orcid.org/0000-0001-5208-3432] comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: obsoletion_candidate xref: Orphanet:93454 {source="MONDO:relatedTo"} is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia is_a: MONDO:0018454 ! dysostosis of genetic origin property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0800080 name: severe spondylodysplastic dysplasia def: "An instance of spondylodysplastic dysplasia that has a high degree of severity." [https://orcid.org/0000-0001-5208-3432, PMID:31633310] is_a: MONDO:0019694 {source="PMID:31633310"} ! spondylodysplastic dysplasia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0800084 name: primary bone dysplasia with increased bone density comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:93444"} synonym: "primary osteodysplasia with increased bone density" EXACT [Orphanet:93444] synonym: "primary skeletal dysplasia with increased bone density" EXACT [Orphanet:93444] synonym: "sclerosing bone dysplasia" EXACT [Orphanet:93444] xref: Orphanet:93444 {source="MONDO:equivalentTo"} xref: UMLS:CN043667 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN043667 property_value: exactMatch Orphanet:93444 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0800085 name: dysostosis with predominant craniofacial involvement comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:93453"} xref: Orphanet:93453 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia property_value: exactMatch Orphanet:93453 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0800086 name: primary bone dysplasia with multiple joint dislocations comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:93441"} synonym: "primary osteodysplasia with multiple joint dislocations" EXACT [Orphanet:93441] synonym: "primary skeletal dysplasia with multiple joint dislocations" EXACT [Orphanet:93441] xref: Orphanet:93441 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia property_value: exactMatch Orphanet:93441 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0800087 name: type 11 collagen-related bone disorder comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: obsoletion_candidate subset: ordo_group_of_disorders xref: Orphanet:93422 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia property_value: exactMatch Orphanet:93422 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0800088 name: lysosomal storage disease with skeletal involvement subset: ordo_group_of_disorders {source="Orphanet:93448"} synonym: "dysostosis multiplex" EXACT [Orphanet:93448] xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:93448 {source="MONDO:equivalentTo"} xref: SCTID:254069004 {source="MONDO:equivalentTo"} xref: UMLS:CN206618 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia property_value: exactMatch http://identifiers.org/snomedct/254069004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206618 property_value: exactMatch Orphanet:93448 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0800089 name: primary bone dysplasia with disorganized development of skeletal components comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:93450"} synonym: "primary osteodysplasia with disorganised development of skeletal components" EXACT OMO:0003005 [] synonym: "primary osteodysplasia with disorganized development of skeletal components" EXACT [Orphanet:93450] synonym: "primary skeletal dysplasia with disorganised development of skeletal components" EXACT OMO:0003005 [] synonym: "primary skeletal dysplasia with disorganized development of skeletal components" EXACT [Orphanet:93450] xref: Orphanet:93450 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia property_value: exactMatch Orphanet:93450 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0800090 name: ectrodactyly with and without other manifestations comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: obsoletion_candidate xref: Orphanet:498477 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia property_value: exactMatch Orphanet:498477 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0800091 name: overgrowth or tall stature syndrome with skeletal involvement comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders xref: Orphanet:498448 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia property_value: exactMatch Orphanet:498448 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0800092 name: hereditary inflammatory or rheumatoid-like osteoarthropathy comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: obsoletion_candidate synonym: "genetic inflammatory or rheumatoid-like osteoarthropathy" EXACT [Orphanet:498445] xref: Orphanet:498445 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia property_value: exactMatch Orphanet:498445 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0800093 name: dysostosis with brachydactyly without extraskeletal manifestations comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders xref: Orphanet:498451 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia property_value: exactMatch Orphanet:498451 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0800094 name: dysostosis with brachydactyly with extraskeletal manifestations comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders xref: Orphanet:498454 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia property_value: exactMatch Orphanet:498454 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0800095 name: syndrome with synostosis or other joint formation defect comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:93459"} xref: Orphanet:93459 {source="MONDO:equivalentTo"} xref: UMLS:CN206620 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206620 property_value: exactMatch Orphanet:93459 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0800096 name: abnormal mineralization disorder def: "A skeletal dysplasia where osteoid becomes calcified." [https://emedicine.medscape.com/article/985766-overview] synonym: "disorder of bone mineralization" EXACT [https://emedicine.medscape.com/article/985766-overview] synonym: "osteomalacia" RELATED [https://orcid.org/0000-0001-5208-3432] is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4948 xsd:anyURI [Term] id: MONDO:0800113 name: necrotizing vasculitis def: "A type of vasculitis that is comprised of vasculitides that present with necrosis." [PMID:637044] synonym: "systemic vasculitis" EXACT [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X] xref: NCIT:C70635 {source="MONDO:equivalentTo"} is_a: EFO:0006803 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! vasculitis property_value: exactMatch NCIT:C70635 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5261 xsd:anyURI [Term] id: MONDO:0800152 name: disorder of galactose and fructose metabolism def: "An inherited disorder of carbohydrate metabolism that is has its basis in the disruption of galactose and/or fructose metabolic process." [MONDO:patterns/inborn_metabolic] is_a: MONDO:0019214 {source="PMID:33340416"} ! inborn carbohydrate metabolic disorder property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0800153 name: urea cycle disorder or inherited hyperammonemia def: "A disorder of amino acid metabolism that has its basis in the disruption of the urea cycle or an inherited hyperammonemia (any specific disease which causes an inherited increased concentration of ammonia in the blood)." [https://orcid.org/0000-0001-6330-7526] is_a: MONDO:0004739 ! urea cycle disorder property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5378 xsd:anyURI [Term] id: MONDO:0800159 name: disorder of polyamine metabolism def: "An inherited metabolic disease that has its basis in the disruption of the polyamine metabolic process." [MONDO:patterns/inborn_metabolic] is_a: MONDO:0100473 {source="PMID:33340416"} ! disorder of peptide and amine metabolism property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4985 xsd:anyURI [Term] id: MONDO:0800166 name: Knobloch syndrome xref: OMIMPS:267750 {source="MONDO:equivalentTo"} is_a: MONDO:0020248 {source="OMIMPS:267750"} ! vitreoretinal degeneration property_value: exactMatch https://omim.org/phenotypicSeries/PS267750 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0800167 name: Knobloch syndrome 1 subset: gard_rare {source="GARD:0000380"} subset: ordo_malformation_syndrome {source="Orphanet:1571"} synonym: "KNO" RELATED [OMIM:267750] synonym: "KNO1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:267750] synonym: "KNOBLOCH syndrome 1" EXACT [MONDO:Lexical, OMIM:267750] synonym: "Knobloch syndrome type 1" EXACT [MONDORULE:1, OMIM:267750] synonym: "Knobloch syndrome, type 1" EXACT [OMIM:267750, OMIM:genemap2] synonym: "Knobloch-Layer syndrome" EXACT [Orphanet:1571] synonym: "myopia retinal detachment encephalocele" RELATED [GARD:0000380] synonym: "retinal detachment and occipital encephalocele" RELATED [OMIM:267750] synonym: "retinal detachment-occipital encephalocele syndrome" EXACT [Orphanet:1571] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537209 {source="Orphanet:1571", source="MONDO:equivalentTo", source="Orphanet:1571/e"} xref: OMIM:267750 {source="Orphanet:1571", source="MONDO:equivalentTo", source="Orphanet:1571/e"} xref: Orphanet:1571 {source="MONDO:equivalentTo", source="OMIM:267750"} xref: SCTID:703542000 {source="MONDO:equivalentTo"} xref: UMLS:C1849409 {source="Orphanet:1571", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:267750", source="Orphanet:1571/e"} is_a: MONDO:0800166 {source="OMIM:267750"} ! Knobloch syndrome property_value: exactMatch http://identifiers.org/mesh/C537209 property_value: exactMatch http://identifiers.org/snomedct/703542000 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849409 property_value: exactMatch https://omim.org/entry/267750 property_value: exactMatch Orphanet:1571 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4521 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5404 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/380/knobloch-syndrome xsd:anyURI {source="GARD:0000380"} [Term] id: MONDO:0800174 name: encephalitis, acute, infection-induced, susceptibility to def: "An inherited susceptibility or predisposition to developing encephalitis, acute, infection-induced." [MONDO:patterns/inherited_susceptibility] xref: OMIMPS:610551 {source="MONDO:relatedTo"} is_a: MONDO:0020573 {source="OMIMPS:610551"} ! inherited disease susceptibility relationship: predisposes_towards MONDO:0000166 {source="OMIMPS:610551"} ! encephalopathy, acute, infection-induced property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4882 xsd:anyURI [Term] id: MONDO:0800180 name: CPOX-related hereditary coproporphyria def: "Any inherited porphyria in which the cause of the disease is monoallelic or biallelic variants in the CPOX gene." [https://clinicalgenome.org/affiliation/40097/, https://clinicalgenome.org/working-groups/clinical-domain/inborn-errors-of-metabolism/] comment: Per criteria outlined by the ClinGen Lumping and Splitting Working Group, the molecular mechanism (CPOX loss-of-function) was found to be consistent between the harderoporphyria cases and hereditary coproporphyria cases. In addition, the phenotypic differences between the biallelic and monoallelic cases appeared to represent a single spectrum of disease. Therefore, cases caused by inherited CPOX variants have been lumped into a single disease entity referred to as CPOX-related hereditary coproporphyria, with a semidominant mode of inheritance. is_a: MONDO:0019142 {source="https://clinicalgenome.org/affiliation/40097/", source="https://clinicalgenome.org/working-groups/clinical-domain/inborn-errors-of-metabolism/"} ! inherited porphyria property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5474 xsd:anyURI [Term] id: MONDO:0800181 name: OPA1-related optic atrophy with or without extraocular features def: "Any primary mitochondrial disease in which the cause of the disease is monoallelic or biallelic variants in the OPA1 gene. While optic atrophy is present in most affected cases, OPA1 is a mitochondrial protein and thus features of this disease include abnormal mitochondrial morphology and multiple mitochondrial DNA deletions, and can affect other organ systems and. Extraocular features can include progressive sensorineural hearing impairment, cognitive impairment, peripheral neuropathy, myopathy, ragged-red muscle fibers, and exercise-induced lactic acidemia, while additional ocular features can include progressive visual loss, central scotoma, and color vision abnormalities." [https://clinicalgenome.org/working-groups/clinical-domain/inborn-errors-of-metabolism/, https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] comment: Per criteria outlined by the ClinGen Lumping and Splitting Working Group, we found the molecular mechanism (loss of function variants in OPA1) to be consistent among apparently unrelated patients, while related patients harboring either biallelic or monoallelic OPA1 variants were affected with optic atrophy. The phenotypic variability between them appeared to represent a spectrum of disease rather than separate disease entities. Therefore, affected cases harboring monoallelic or biallelic OPA1 variants have been lumped into a single disease entity, referred to as OPA1-related optic atrophy with or without extraocular features. is_a: MONDO:0004069 {source="https://clinicalgenome.org/working-groups/clinical-domain/inborn-errors-of-metabolism/", source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! inborn mitochondrial metabolism disorder is_a: MONDO:0020249 {source="https://clinicalgenome.org/working-groups/clinical-domain/inborn-errors-of-metabolism/", source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! hereditary optic neuropathy property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5475 xsd:anyURI [Term] id: MONDO:0800183 name: PAX6-related ocular dysgenesis def: "Any eye disorder in which the cause of the disease is a mutation in the PAX6 gene." [] comment: Per criteria outlined by the ClinGen Lumping and Splitting Working Group, we found that the diverse phenotypes associated with variants in PAX6 have all been associated with an autosomal dominant mode of inheritance. The high proportion of null and apparent loss-of-function PAX6 variants across all of these phenotypes indicates a common haploinsufficiency mechanism. The phenotypic variability among them is consistent with a single spectrum of disease. is_a: EFO:0003966 {source="https://clinicalgenome.org/affiliation/40077/", source="https://www.clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! eye disease property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5477 xsd:anyURI [Term] id: MONDO:0800188 name: malignant hyperthermia, susceptibility to def: "An inherited susceptibility or predisposition to developing malignant hyperthermia." [MONDO:patterns/inherited_susceptibility] xref: OMIMPS:145600 {source="MONDO:equivalentTo"} is_a: MONDO:0020573 {source="OMIMPS:145600"} ! inherited disease susceptibility property_value: exactMatch https://omim.org/phenotypicSeries/PS145600 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/4882 xsd:anyURI [Term] id: MONDO:0800207 name: neuropathy, small fiber synonym: "SFNP" EXACT ABBREVIATION [OMIM:133020] is_a: EFO:0003100 {source="https://orcid.org/0000-0001-5208-3432"} ! peripheral neuropathy property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5507 xsd:anyURI [Term] id: MONDO:0800224 name: amyotrophic lateral sclerosis, susceptibility to, 13 synonym: "ALS13" EXACT ABBREVIATION [OMIM:183090] is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5507 xsd:anyURI [Term] id: MONDO:0800365 name: peroxisome biogenesis disorder, complementation group K synonym: "CGK" EXACT ABBREVIATION [OMIM:614887] is_a: MONDO:0100268 {source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder due to PEX14 defect property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5507 xsd:anyURI [Term] id: MONDO:0800373 name: carbon monoxide poisoning def: "A poisoning that is caused by exposure to carbon monoxide." [MONDO:patterns/patterns/poisoning] synonym: "CO Poisoning" EXACT [https://orcid.org/0000-0001-7151-1615] is_a: EFO:0008546 {source="https://orcid.org/0000-0001-7151-1615"} ! poisoning property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5528 xsd:anyURI [Term] id: MONDO:0800406 name: ABCA4-related retinopathy def: "An inherited retinopathy caused by bi-allelic variants in the ABCA4 gene." [https://clinicalgenome.org/affiliation/40072/, MONDO:patterns/disease_series_by_gene] is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5693 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6138 xsd:anyURI property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6168 xsd:anyURI [Term] id: MONDO:0800448 name: leukoencephalopathy with vanishing white matter def: "A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes \"foamy'' aspect." [Orphanet:135] subset: ordo_disease {source="Orphanet:135"} synonym: "CACH" EXACT ABBREVIATION [DOID:0060868] synonym: "CACH syndrome" RELATED [Orphanet:135] synonym: "CACH/VWM" RELATED [GARD:0000231] synonym: "CACH/VWM syndrome" RELATED [GARD:0000231] synonym: "childhood ataxia with central nervous system hypomyelination" EXACT [DOID:0060868] synonym: "childhood ataxia with central nervous system hypomyelination/vanishing white matter" RELATED [GARD:0000231] synonym: "childhood ataxia with central nervous system hypomyelinization" RELATED [OMIM:603896] synonym: "childhood ataxia with diffuse central nervous system hypomyelination" EXACT [Orphanet:135] synonym: "Cree leukoencephalopathy" NARROW [DOID:0060868, GARD:0000231] synonym: "leukoencephalopathy with vanishing WHITE matter" RELATED [OMIM:603896] synonym: "leukoencephalopathy with vanishing white matter" EXACT [MONDO:Lexical, OMIM:603896, Orphanet:135] synonym: "myelinosis centralis diffusa" EXACT [Orphanet:135] synonym: "ovarioleukodystrophy" RELATED [OMIM:603896] synonym: "vanishing white matter disease" RELATED [GARD:0000231] synonym: "vanishing White matter leukodystrophy" RELATED [OMIM:603896] synonym: "vanishing white matter leukodystrophy" RELATED [DOID:0060868] synonym: "vanishing White matter leukodystrophy with ovarian failure" RELATED [OMIM:603896] synonym: "VWM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:603896] xref: DOID:0060868 {source="MONDO:equivalentTo"} xref: GARD:0000231 {source="MONDO:equivalentTo"} xref: NCIT:C122664 {source="MONDO:equivalentTo"} xref: OMIMPS:603896 {source="MONDO:equivalentTo"} xref: Orphanet:135 {source="OMIM:603896", source="MONDO:equivalentTo", source="DOID:0060868"} xref: SCTID:447351004 {source="MONDO:equivalentTo"} xref: UMLS:C1858991 {source="OMIM:603896", source="Orphanet:135/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C122664", source="Orphanet:135"} is_a: MONDO:0019046 {source="DOID:0060868", source="Orphanet:135"} ! leukodystrophy property_value: exactMatch DOID:0060868 property_value: exactMatch http://identifiers.org/snomedct/447351004 property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858991 property_value: exactMatch https://omim.org/phenotypicSeries/PS603896 property_value: exactMatch NCIT:C122664 property_value: exactMatch Orphanet:135 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/6216 xsd:anyURI [Term] id: MONDO:0850093 name: absence epilepsy xref: DOID:0070309 {source="MONDO:equivalentTo"} is_a: MONDO:0000411 {source="DOID:0070309"} ! electroclinical syndrome property_value: exactMatch DOID:0070309 [Term] id: MONDO:0858940 name: infant-type hemispheric glioma def: "A malignant astrocytoma that is characterized by receptor tyrosine kinase fusions in the NTRK family, ROS1, ALK, or MET genes, that arises in the cerebral hemisphere and occurs in early childhood." [DOID:0081278] xref: DOID:0081278 {source="MONDO:equivalentTo"} is_a: MONDO:0021636 {source="DOID:0081278"} ! astrocytic tumor property_value: exactMatch DOID:0081278 [Term] id: MONDO:0858956 name: diffuse leptomeningeal glioneuronal tumor def: "A central nervous system benign neoplasm that is characterized by the presence of clear glial neoplastic cells reminiscent of oligodendroglioma." [DOID:0081302] xref: DOID:0081302 {source="MONDO:equivalentTo"} is_a: MONDO:0000628 {source="DOID:0081302"} ! central nervous system organ benign neoplasm property_value: exactMatch DOID:0081302 [Term] id: MONDO:0859383 name: ichthyosis hystrix xref: OMIMPS:146590 {source="MONDO:equivalentTo"} is_a: MONDO:0015947 {source="OMIMPS:146590"} ! inherited ichthyosis property_value: exactMatch https://omim.org/phenotypicSeries/PS146590 [Term] id: MONDO:0859390 name: epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features xref: OMIMPS:300491 {source="MONDO:equivalentTo"} is_a: MONDO:0015653 {source="OMIMPS:300491"} ! monogenic epilepsy property_value: exactMatch https://omim.org/phenotypicSeries/PS300491 [Term] id: MONDO:0957001 name: hereditary mixed dermis disorder comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: obsoletion_candidate xref: Orphanet:183481 {source="MONDO:equivalentTo"} is_a: MONDO:0019294 {source="Orphanet:183481", source="https://orcid.org/0000-0001-5208-3432"} ! mixed dermis disorder is_a: MONDO:0100118 ! hereditary skin disorder intersection_of: MONDO:0019294 ! mixed dermis disorder intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch Orphanet:183481 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0957003 name: hereditary neuro-ophthalmological disease synonym: "genetic neuro-ophthalmological disease" EXACT [Orphanet:183616] xref: Orphanet:183616 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0015368 {source="Orphanet:183616", source="https://orcid.org/0000-0001-5208-3432"} ! neuro-ophthalmological disease intersection_of: MONDO:0015368 ! neuro-ophthalmological disease intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch Orphanet:183616 [Term] id: MONDO:0957008 name: hereditary cerebral malformation synonym: "genetic cerebral malformation" EXACT [Orphanet:269553] xref: Orphanet:269553 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0016054 {source="Orphanet:269553", source="https://orcid.org/0000-0001-5208-3432"} ! cerebral malformation intersection_of: MONDO:0016054 ! cerebral malformation intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch Orphanet:269553 [Term] id: MONDO:0957009 name: hereditary posterior fossa malformation comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: obsoletion_candidate synonym: "genetic posterior fossa malformation" EXACT [Orphanet:269557] xref: Orphanet:269557 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0020133 {source="Orphanet:269557", source="https://orcid.org/0000-0001-5208-3432"} ! posterior fossa malformation intersection_of: MONDO:0020133 ! posterior fossa malformation intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch Orphanet:269557 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0957024 name: hereditary 46,XX disorder of sex development comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: obsoletion_candidate synonym: "genetic 46,XX disorder of sex development" EXACT [Orphanet:325697] xref: Orphanet:325697 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0017576 {source="Orphanet:325697", source="https://orcid.org/0000-0001-5208-3432"} ! 46,XX disorder of sex development intersection_of: MONDO:0017576 ! 46,XX disorder of sex development intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch Orphanet:325697 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0957025 name: hereditary 46,XY disorder of sex development comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletione effort for ORDO terms. subset: obsoletion_candidate synonym: "genetic 46,XY disorder of sex development" EXACT [Orphanet:325706] xref: Orphanet:325706 {source="MONDO:equivalentTo"} is_a: EFO:0000508 ! genetic disorder is_a: MONDO:0020040 {source="Orphanet:325706", source="https://orcid.org/0000-0001-5208-3432"} ! 46,XY disorder of sex development intersection_of: MONDO:0020040 ! 46,XY disorder of sex development intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch Orphanet:325706 property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5114 xsd:anyURI property_value: IAO:0006012 "2023-10-01" xsd:string [Term] id: MONDO:0957097 name: hereditary hemolytic uremic syndrome synonym: "genetic hemolytic uremic syndrome" EXACT [Orphanet:576742] xref: OMIMPS:235400 {source="MONDO:equivalentTo"} xref: Orphanet:576742 {source="MONDO:equivalentTo"} is_a: MONDO:0001549 {source="OMIMPS:235400"} ! hemolytic-uremic syndrome is_a: MONDO:0021181 ! inherited blood coagulation disorder intersection_of: MONDO:0001549 ! hemolytic-uremic syndrome intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: exactMatch https://omim.org/phenotypicSeries/PS235400 property_value: exactMatch Orphanet:576742 [Term] id: MONDO:1011305 name: cancer or benign tumor, non-human animal def: "Cancer or benign tumor that occurs in non-human animals." [MONDO:patterns/nonhuman_disease] is_a: EFO:0005932 ! animal disease property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch MONDO:0045024 [Term] id: MONDO:1011310 name: developmental defect during embryogenesis, non-human animal def: "Developmental defect during embryogenesis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease] is_a: MONDO:1011313 ! disorder of development or morphogenesis, non-human animal property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch MONDO:0019755 [Term] id: MONDO:1011313 name: disorder of development or morphogenesis, non-human animal def: "Disorder of development or morphogenesis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease] is_a: EFO:0005932 ! animal disease property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch MONDO:0021147 [Term] id: MONDO:1011317 name: endocrine system disorder, non-human animal def: "Endocrine system disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease] is_a: EFO:0005932 ! animal disease property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch MONDO:0005151 [Term] id: MONDO:1011319 name: hematologic disorder, non-human animal def: "Hematologic disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease] is_a: EFO:0005932 ! animal disease property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch MONDO:0005570 [Term] id: MONDO:1011354 name: reproductive system disorder, non-human animal def: "Reproductive system disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease] is_a: EFO:0005932 ! animal disease property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch MONDO:0005039 [Term] id: MP:0001845 name: inflammation def: "Aberrant reaction of the microcirculation characterized by movement of fluid and leukocytes from the blood into extravascular tissues." [] synonym: "inflammatory response" EXACT [] xref: MeSH:D007249 xref: NCIt:C3137 xref: SNOMEDCT:23583003 xref: SNOMEDCT:257552002 is_a: HP:0002715 ! Abnormality of the immune system [Term] id: MP:0001914 name: hemorrhage def: "Loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels." [] synonym: "bleeding" EXACT [] synonym: "haemorrhage" EXACT [] xref: ICD10:O20 xref: ICD10:R04 xref: MeSH:D006470 xref: NCIt:C26791 xref: SNOMEDCT:50960005 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues property_value: gwas:trait "true" xsd:boolean [Term] id: MP:0003254 name: obsolete_bile duct inflammation synonym: "cholangitis" EXACT [] xref: DOID:9446 xref: ICD9:576.1 xref: MeSH:D002761 xref: NCIt:C26718 xref: SNOMEDCT:82403002 property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "'bile duct inflammation' obsoletised in favor of http://purl.obolibrary.org/obo/HP_0030151" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/HP_0030151 [Term] id: MPATH:0 name: pathological entity namespace: mouse_pathology.ontology def: "Pathological structure or process" [Pathbase: Curation] is_a: BFO:0000040 ! material entity [Term] id: MPATH:212 name: inflammation (MPATH) namespace: mouse_pathology.ontology def: "A tissue reaction to an internal or external injury." [] is_a: MPATH:0 ! pathological entity created_by: George Gkoutos [Term] id: MPATH:579 name: ulcer namespace: mouse_pathology.ontology def: "Loss of epithelium and the basement membrane (full thickness). Cf Erosion." [Pathbase: Pathology Committee] xref: MeSH:D014456 xref: NCIt:C3426 xref: SNOMEDCT:429040005 xref: SNOMEDCT:56208002 is_a: MPATH:0 ! pathological entity [Term] id: NCBITaxon:100226 name: Streptomyces coelicolor A3(2) namespace: ncbi_taxonomy is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:10029 name: Cricetulus griseus namespace: ncbi_taxonomy synonym: "Chinese hamster" EXACT common_name [] synonym: "Chinese hamsters" EXACT common_name [] synonym: "Cricetulus aureus" EXACT equivalent_name [] synonym: "Cricetulus barabensis griseus" EXACT synonym [] synonym: "Cricetus griseus" EXACT misnomer [] xref: NCIt:C77091 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:10036 name: Mesocricetus auratus namespace: ncbi_taxonomy synonym: "golden hamster" EXACT common_name [] synonym: "Golden hamsters" EXACT synonym [] synonym: "Microcricetus aureus" EXACT misnomer [] synonym: "Syrian golden hamster" EXACT common_name [] synonym: "Syrian golden hamsters" EXACT common_name [] synonym: "Syrian hamster" EXACT common_name [] synonym: "Syrian hamsters" EXACT synonym [] xref: NCIt:C77095 xref: SNOMEDCT:392389001 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:10044 name: Phodopus sungorus namespace: ncbi_taxonomy synonym: "Djungarian hamster" EXACT common_name [] synonym: "Djungarian hamster also in use for Phodopus campbelli" EXACT equivalent_name [] synonym: "Dzhungarian hamster" EXACT common_name [] synonym: "Siberian hamster" EXACT common_name [] synonym: "striped hairy-footed hamster" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:10088 name: Mus def: "Mus (commonly mice) is a small mammal belonging to the order of rodents." [] synonym: "mice" EXACT [] synonym: "mouse" EXACT [] xref: MeSH:D051379 xref: NCIt:C14238 xref: SNOMEDCT:447482001 is_a: NCBITaxon:2759 ! Eukaryota property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0002644 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: NCBITaxon:10089 name: Mus caroli namespace: ncbi_taxonomy synonym: "Mus formosanus" EXACT synonym [] synonym: "ricefield mouse" EXACT common_name [] synonym: "Ryukyu mouse" EXACT common_name [] is_a: NCBITaxon:10088 ! Mus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: NCBITaxon:10090 name: Mus musculus namespace: ncbi_taxonomy synonym: "house mouse" EXACT common_name [] synonym: "mice C57BL/6xCBA/CaJ hybrid" EXACT misspelling [] synonym: "mouse" EXACT common_name [] synonym: "Mus muscaris" EXACT misnomer [] xref: NCIt:C45247 xref: SNOMEDCT:447612001 is_a: NCBITaxon:10088 ! Mus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: NCBITaxon:10091 name: Mus musculus castaneus namespace: ncbi_taxonomy synonym: "Mus castaneus" EXACT synonym [] synonym: "Mus casteneus" EXACT misspelling [] synonym: "Mus musculus castenus" EXACT misspelling [] synonym: "southeastern Asian house mouse" EXACT common_name [] xref: NCIt:C71623 is_a: EFO:0003013 ! Mus musculus subspecies property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: NCBITaxon:10092 name: Mus musculus domesticus namespace: ncbi_taxonomy synonym: "Mus domesticus" EXACT synonym [] synonym: "Mus musculus praetextus" EXACT synonym [] synonym: "Mus praetextus" EXACT synonym [] synonym: "western European house mouse" EXACT common_name [] is_a: EFO:0003013 ! Mus musculus subspecies property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: NCBITaxon:10096 name: Mus spretus namespace: ncbi_taxonomy synonym: "Algerian mouse" EXACT common_name [] synonym: "Mus musculus spretus" EXACT synonym [] synonym: "western wild mouse" EXACT common_name [] xref: NCIt:C71624 is_a: NCBITaxon:10088 ! Mus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: NCBITaxon:10112 name: Mastomys natalensis namespace: ncbi_taxonomy synonym: "African soft-furred rat" EXACT common_name [] synonym: "Natal multimammate mouse" EXACT common_name [] synonym: "Natal multimammate rat" EXACT common_name [] synonym: "Praomys natalensis" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:10114 name: Rattus synonym: "Mammals, Rats" EXACT [] synonym: "rat" EXACT [] xref: NCIt:C14266 xref: NIFSTD:birnlex_160 xref: SNOMEDCT:371564000 is_a: NCBITaxon:2759 ! Eukaryota property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001995 xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: NCBITaxon:10116 name: Rattus norvegicus namespace: ncbi_taxonomy synonym: "brown rat" EXACT common_name [] synonym: "Gunn rats" EXACT misnomer [] synonym: "Norway rat" EXACT common_name [] synonym: "rat" EXACT common_name [] synonym: "rats" EXACT common_name [] synonym: "Rattus norvegicus8" EXACT misspelling [] synonym: "Rattus norwegicus" EXACT misspelling [] synonym: "Rattus rattiscus" EXACT misnomer [] synonym: "Rattus sp. strain Wistar" EXACT equivalent_name [] xref: MeSH:D051381 xref: NCIt:C14266 xref: SNOMEDCT:371565004 is_a: NCBITaxon:10114 ! Rattus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: NCBITaxon:10117 name: Rattus rattus namespace: ncbi_taxonomy synonym: "black rat" EXACT common_name [] synonym: "house rat" EXACT common_name [] synonym: "Rattus rattoides" EXACT synonym [] synonym: "roof rat" EXACT common_name [] is_a: NCBITaxon:10114 ! Rattus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: NCBITaxon:101202 name: Microsporum distortum namespace: ncbi_taxonomy is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:101269 name: Lilium hybrid division VII namespace: ncbi_taxonomy synonym: "Lilium hybrid cultivar VII cv. 'Acapulco'" EXACT misspelling [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:101510 name: Rhodococcus jostii RHA1 namespace: ncbi_taxonomy synonym: "Rhodococcus jostii str. RHA1" EXACT equivalent_name [] synonym: "Rhodococcus jostii strain RHA1" EXACT equivalent_name [] synonym: "Rhodococcus sp. (strain RHA1)" EXACT synonym [] synonym: "Rhodococcus sp. RHA1" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:10181 name: Heterocephalus glaber namespace: ncbi_taxonomy synonym: "naked mole rat" EXACT common_name [] synonym: "naked mole-rat" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:102106 name: Collinsella namespace: ncbi_taxonomy synonym: "Collinsella Kageyama et al. 1999 emend. Kageyama and Benno 2000" EXACT synonym [] xref: NCIt:C86300 xref: SNOMEDCT:417046005 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:10228 name: Trichoplax adhaerens namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:10239 name: Virus namespace: ncbi_taxonomy def: "Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." [] synonym: "Animal Virus" EXACT [] synonym: "Animal Viruses" EXACT [] synonym: "Vira" EXACT [] synonym: "Viridae" EXACT [] synonym: "Virus, Animal" EXACT [] synonym: "Viruses" EXACT [] synonym: "viruses" EXACT [] synonym: "Viruses, Animal" EXACT [] synonym: "Zoophaginae" EXACT [] xref: MeSH:D014780 xref: MO:372 xref: NCIt:C14283 xref: SNOMEDCT:49872002 is_a: OBI:0100026 ! organism property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001450 xsd:string property_value: has_rank NCBITaxon:superkingdom property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: NCBITaxon:10252 name: Vaccinia virus Lister namespace: ncbi_taxonomy synonym: "Vaccinia virus (strain Lister)" EXACT synonym [] is_a: NCBITaxon:10239 ! Virus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:10298 name: Human herpesvirus 1 namespace: ncbi_taxonomy synonym: "Herpes simplex virus 1" EXACT genbank_synonym [] synonym: "herpes simplex virus 1 HSV-1" EXACT synonym [] synonym: "herpes simplex virus HSV-1" EXACT synonym [] synonym: "Herpes simplex virus type 1" EXACT common_name [] synonym: "herpes simplex virus type 1 HSV-1" EXACT synonym [] synonym: "herpes simplex virus type 1 HSV1" EXACT synonym [] synonym: "herpes simplex virus type-1 HSV-1" EXACT synonym [] synonym: "HSV-1" EXACT acronym [] synonym: "HSV1" EXACT acronym [] synonym: "Human herpesvirus type 1" EXACT synonym [] synonym: "Human Herpesvirus-1" EXACT misspelling [] xref: NCIt:C14311 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:103349 name: Vitis rotundifolia namespace: ncbi_taxonomy synonym: "fox grape" EXACT common_name [] synonym: "muscadine" EXACT common_name [] synonym: "Muscadinia rotundifolia" EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:103351 name: Vitis amurensis namespace: ncbi_taxonomy synonym: "Vitis amurensis Rupr." EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:10363 name: Human herpesvirus 5 strain Towne namespace: ncbi_taxonomy synonym: "Human cytomegalovirus (strain Towne)" EXACT synonym [] synonym: "Human herpesvirus 5 (strain Towne)" EXACT synonym [] is_a: NCBITaxon:10239 ! Virus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:10376 name: Human herpesvirus 4 namespace: ncbi_taxonomy synonym: "Epstein-Barr virus" EXACT common_name [] synonym: "Epstein-Barr virus EBV" EXACT synonym [] synonym: "Epstein-Barr-virus EBV" EXACT misnomer [] synonym: "EPV" EXACT acronym [] synonym: "HHV-4" EXACT acronym [] synonym: "Human herpesvirus type 4" EXACT synonym [] xref: NCIt:C14204 xref: SNOMEDCT:40168006 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:103818 name: Lactobacillus kimchii namespace: ncbi_taxonomy xref: SNOMEDCT:432577001 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:10383 name: Herpesvirus saimiri (strain 11) namespace: ncbi_taxonomy is_a: NCBITaxon:10239 ! Virus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:10398 name: Ovine herpesvirus 2 namespace: ncbi_taxonomy synonym: "OvHV-2" EXACT genbank_acronym [] synonym: "OvHV2" EXACT acronym [] synonym: "Ovine herpesvirus type 2" EXACT synonym [] synonym: "ovine herpesvirus-2 OHV-2" EXACT synonym [] synonym: "Sheep-associated malignant catarrhal fever virus" EXACT synonym [] xref: SNOMEDCT:74268000 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:104341 name: Postia placenta namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:104421 name: Camponotus floridanus namespace: ncbi_taxonomy synonym: "Camponotus floridana" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:104660 name: Pinctada maxima namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1047171 name: Zymoseptoria tritici namespace: ncbi_taxonomy synonym: "Mycosphaerella graminicola" EXACT teleomorph [] synonym: "Septoria tritici" EXACT anamorph [] is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:10487 name: Iridovirus namespace: ncbi_taxonomy synonym: "small iridescent insect viruses" EXACT common_name [] xref: MeSH:D017994 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:104955 name: Lactobacillus frumenti namespace: ncbi_taxonomy synonym: "Lactobacillus cerealis" EXACT misnomer [] synonym: "Lactobacillus frumenti Muller et al. 2000" EXACT synonym [] xref: SNOMEDCT:432204008 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:10506 name: Paramecium bursaria Chlorella virus 1 namespace: ncbi_taxonomy synonym: "Chlorella PBCV-1 virus" EXACT synonym [] synonym: "Chlorella virus PBCV-1" EXACT synonym [] synonym: "Paramecium bursaria Chlorella virus 1, PBCV-1" EXACT synonym [] synonym: "Paramecium bursaria Chlorella virus PBCV-1" EXACT synonym [] synonym: "PBCV-1" EXACT acronym [] is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:10519 name: Human adenovirus 7 namespace: ncbi_taxonomy synonym: "Adenovirus type 7" EXACT synonym [] synonym: "Human adenovirus serotype 7" EXACT synonym [] synonym: "Human adenovirus type 7" EXACT synonym [] synonym: "human adenovirus type 7 Ad7" EXACT synonym [] synonym: "Human adenoviruses type 7" EXACT synonym [] synonym: "human adenoviruses type 7 Ad7" EXACT misnomer [] synonym: "Humann adenovirus type 7" EXACT misnomer [] synonym: "Mastadenovirus 7" EXACT synonym [] synonym: "Mastadenovirus h7" EXACT synonym [] synonym: "Mastadenovirus p7" EXACT synonym [] xref: SNOMEDCT:68957002 is_a: NCBITaxon:10239 ! Virus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:10524 name: Human adenovirus 41 namespace: ncbi_taxonomy synonym: "Adenovirus type 41" EXACT synonym [] synonym: "Human adenovirus type 41" EXACT synonym [] synonym: "Mastadenovirus 41" EXACT synonym [] synonym: "Mastadenovirus h41" EXACT synonym [] xref: SNOMEDCT:29576004 is_a: NCBITaxon:10239 ! Virus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:10566 name: Human papillomavirus namespace: ncbi_taxonomy synonym: "Human Papilloma Virus" EXACT synonym [] synonym: "human papillomavirus HPV" EXACT synonym [] xref: NCIt:C14226 xref: SNOMEDCT:9482002 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:10629 name: BK polyomavirus namespace: ncbi_taxonomy synonym: "BK virus" EXACT synonym [] synonym: "BK virus BKV" EXACT synonym [] synonym: "BKV" EXACT acronym [] synonym: "Human polyomavirus (type BK)" EXACT synonym [] synonym: "Human polyomavirus BK" EXACT synonym [] synonym: "Human polyomavirus BKV" EXACT synonym [] synonym: "human polyomavirus type BK BKV" EXACT synonym [] synonym: "Papovavirus BKV" EXACT synonym [] synonym: "polyomavirus BK" EXACT synonym [] synonym: "Polyomavirus hominis 1" EXACT synonym [] synonym: "polyomavirus homonis 1" EXACT misspelling [] xref: MeSH:D001739 xref: NCIt:C89820 xref: SNOMEDCT:83397001 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1063 name: Rhodobacter sphaeroides namespace: ncbi_taxonomy synonym: "Rhodococcus capsulatus" EXACT synonym [] synonym: "Rhodococcus minor" EXACT synonym [] synonym: "Rhodopseudomonas sphaeroides" EXACT synonym [] synonym: "Rhodopseudomonas spheroides" EXACT synonym [] synonym: "Rhodorhagus capsulatus" EXACT synonym [] synonym: "Rhodorhagus minor" EXACT synonym [] synonym: "Rhodorrhagus capsulatus" EXACT synonym [] synonym: "Rhodorrhagus spheroides" EXACT synonym [] synonym: "Rhodosphaera capsulata" EXACT synonym [] synonym: "Rhodosphaera minor" EXACT synonym [] xref: MeSH:D012242 xref: SNOMEDCT:437900000 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:10662 name: Myoviridae namespace: ncbi_taxonomy synonym: "phages with contractile tails" EXACT common_name [] xref: MeSH:D017900 xref: SNOMEDCT:423642005 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:family property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:106773 name: Pachycladon cheesemanii namespace: ncbi_taxonomy synonym: "Cheesemania enysii" EXACT synonym [] synonym: "Cheesemania enysii O.E.Schulz" EXACT synonym [] synonym: "Pachycladon cheesemanii Heenan & A.D.Mitch." EXACT synonym [] synonym: "Pachycladon cheesemannii" EXACT synonym [] synonym: "Sisymbrium novae-zelandiae Hook.f." EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:106787 name: Pachycladon namespace: ncbi_taxonomy synonym: "Pachycladon Hook.f." EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:106788 name: Pachycladon novaezelandiae namespace: ncbi_taxonomy synonym: "Ischnocarpus novae-zelandiae" EXACT synonym [] synonym: "Pachycladon novae-zealandiae" EXACT synonym [] synonym: "Pachycladon novae-zelandiae" EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:107243 name: Noccaea caerulescens namespace: ncbi_taxonomy synonym: "Thlaspi caerulescens" EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:10744 name: Podoviridae namespace: ncbi_taxonomy synonym: "phages with short tails" EXACT common_name [] xref: MeSH:D017902 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:family property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1076 name: Rhodopseudomonas palustris namespace: ncbi_taxonomy synonym: "Rhodobacillus palustris" EXACT synonym [] synonym: "Rhodobacillus palustris" EXACT synonym [NCBITaxonRef:Molisch_1907] synonym: "Rhodobacter palustris" EXACT synonym [] synonym: "Rhodobacterium capsulatum" EXACT synonym [NCBITaxonRef:Molisch_1907] synonym: "Rhodobacterium capsulatum" EXACT synonym [] synonym: "Rhodomonas palustris" EXACT synonym [] synonym: "Rhodomonas palustris" EXACT synonym [NCBITaxonRef:Molisch_Kluyver_and_van_Niel_1936] synonym: "Rhodopseudomonas palustris (Molisch 1907) van Niel 1944" EXACT synonym [] synonym: "Rhodopseudomonas rutila" EXACT synonym [] synonym: "Rhodopseudomonas rutila Akiba et al. 1983" EXACT synonym [] synonym: "Rhodovibrio parvus" EXACT synonym [] synonym: "Rhodovibrio parvus" EXACT synonym [NCBITaxonRef:Molisch_1907] xref: SNOMEDCT:415338001 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:10832 name: Tomato yellow leaf curl virus namespace: ncbi_taxonomy synonym: "tomato yellow leaf curl begomovirus" EXACT synonym [] synonym: "tomato yellow leaf curl geminivirus" EXACT synonym [] synonym: "tomato yellow leaf curl virus TYLCV" EXACT synonym [] synonym: "TYLCV" EXACT genbank_synonym [] is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1085 name: Rhodospirillum rubrum namespace: ncbi_taxonomy synonym: "Dicrospirillum rubrum" EXACT synonym [] synonym: "Rhodospirillum giganteum" EXACT synonym [] synonym: "Rhodospirillum gracile" EXACT synonym [] synonym: "Rhodospirillum longum" EXACT synonym [] synonym: "Spirillum rubrum" EXACT synonym [] xref: MeSH:D012247 xref: SNOMEDCT:440907003 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:108619 name: Salmonella enterica subsp. enterica serovar Newport namespace: ncbi_taxonomy synonym: "Salmonella newport" EXACT synonym [] synonym: "Salmonella serotype Newport" EXACT synonym [] xref: NCIt:C86921 xref: SNOMEDCT:56077000 is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:109174 name: Haliotis asinina namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:11053 name: Dengue virus 1 namespace: ncbi_taxonomy synonym: "dengue type 1 D1 virus" EXACT synonym [] synonym: "Dengue virus type 1" EXACT synonym [] synonym: "dengue virus type 1 DEN1" EXACT synonym [] synonym: "dengue virus type I" EXACT synonym [] synonym: "dengue virus-1 DEN-1" EXACT synonym [] synonym: "Type 1 dengue virus" EXACT misnomer [] synonym: "type 1 dengue virus DEN-1" EXACT synonym [] xref: NCIt:C112266 is_a: NCBITaxon:10239 ! Virus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:11060 name: Dengue virus 2 namespace: ncbi_taxonomy synonym: "dengue 2 virus DEN-2" EXACT synonym [] synonym: "Dengue virus type 2" EXACT synonym [] synonym: "Dengue virus type II" EXACT synonym [] synonym: "dengue-2 virus" EXACT synonym [] synonym: "dengue-2 virus DEN-2" EXACT misnomer [] xref: NCIt:C112267 is_a: NCBITaxon:10239 ! Virus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:11069 name: Dengue virus 3 namespace: ncbi_taxonomy synonym: "dengue 3 virus" EXACT synonym [] synonym: "Dengue virus type 3" EXACT synonym [] xref: NCIt:C112268 is_a: NCBITaxon:10239 ! Virus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:11070 name: Dengue virus 4 namespace: ncbi_taxonomy synonym: "dengue type 4 virus DEN4" EXACT synonym [] synonym: "Dengue virus type 4" EXACT synonym [] xref: NCIt:C112269 is_a: NCBITaxon:10239 ! Virus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:11082 name: West Nile virus namespace: ncbi_taxonomy synonym: "WNV" EXACT genbank_acronym [] xref: MeSH:D014902 xref: NCIt:C71877 xref: SNOMEDCT:57311007 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:11089 name: Yellow fever virus namespace: ncbi_taxonomy synonym: "Flavivirus febricis" EXACT synonym [] synonym: "yellow fever virus YFV" EXACT synonym [] synonym: "YFV" EXACT genbank_acronym [] xref: MeSH:D015005 xref: NCIt:C97156 xref: SNOMEDCT:26630006 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:11099 name: Bovine viral diarrhea virus 1 namespace: ncbi_taxonomy synonym: "Bovine viral diarrhea virus" EXACT synonym [] synonym: "bovine viral diarrhea virus BVDV" EXACT synonym [] synonym: "Bovine viral diarrhea virus type 1" EXACT synonym [] synonym: "bovine viral diarrhea virus type I" EXACT synonym [] synonym: "Bovine viral diarrhea virus-1" EXACT synonym [] synonym: "BVDV" EXACT acronym [] synonym: "BVDV-1" EXACT acronym [] synonym: "Mucosal disease virus" EXACT synonym [] synonym: "Pestivirus type 1" EXACT synonym [] is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:11103 name: Hepatitis C virus synonym: "HCV" EXACT [] synonym: "hepatitis C virus HCV" EXACT [] synonym: "human hepatitis C virus" EXACT [] synonym: "human hepatitis C virus HCV" EXACT [] synonym: "post-transfusion hepatitis non A non B virus" EXACT [] xref: GC_ID:1 is_a: NCBITaxon:10239 ! Virus [Term] id: NCBITaxon:1117 name: Cyanobacteria namespace: ncbi_taxonomy synonym: "blue-green algae" EXACT common_name [] synonym: "blue-green bacteria" EXACT common_name [] synonym: "cyanobacteria" EXACT blast_name [] synonym: "Cyanophyceae" EXACT synonym [] synonym: "Cyanophycota" EXACT synonym [] synonym: "Cyanophyta" EXACT synonym [] synonym: "cyanophytes" EXACT common_name [] synonym: "Oxygenic photosynthetic bacteria" EXACT synonym [] synonym: "Oxyphotobacteria" EXACT synonym [] xref: MeSH:D000458 xref: SNOMEDCT:415101005 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:phylum property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:112407 name: Cuscuta pentagona namespace: ncbi_taxonomy synonym: "Cuscuta pentagona Engelm." EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:112509 name: Hordeum vulgare subsp. vulgare synonym: "barley" EXACT [] synonym: "domesticated barley" EXACT [] synonym: "two-rowed barley" EXACT [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: IAO:0000117 "Catherine Leroy" xsd:string [Term] id: NCBITaxon:11260 name: Human respiratory syncytial virus A strain Long namespace: ncbi_taxonomy synonym: "Human respiratory syncytial virus (subgroup A / strain Long)" EXACT synonym [] is_a: NCBITaxon:10239 ! Virus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:11277 name: Vesicular stomatitis Indiana virus namespace: ncbi_taxonomy synonym: "VSIV" EXACT acronym [] xref: MeSH:D014721 xref: SNOMEDCT:23498004 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:11292 name: Rabies virus namespace: ncbi_taxonomy xref: MeSH:D011820 xref: NCIt:C112405 xref: SNOMEDCT:59881000 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:11320 name: Influenza A virus namespace: ncbi_taxonomy synonym: "FLUAV" EXACT acronym [] synonym: "influenza A virus INF A" EXACT misnomer [] synonym: "Influenza virus type A" EXACT synonym [] xref: MeSH:D009980 xref: NCIt:C53454 xref: SNOMEDCT:407479009 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:113636 name: Populus tremula namespace: ncbi_taxonomy synonym: "European aspen" EXACT common_name [] synonym: "Populus tremula L." EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1140 name: Synechococcus elongatus PCC 7942 namespace: ncbi_taxonomy synonym: "Anacystis nidulans" EXACT in_part [] synonym: "Anacystis nidulans R2" EXACT synonym [] synonym: "Anacystis nidulans R2-SPc'" EXACT misspelling [] synonym: "Syncchococcus PCC7942" EXACT misspelling [] synonym: "Synechococcus 7942" EXACT misspelling [] synonym: "Synechococcus leopoliensis strain PCC 7942" EXACT synonym [] synonym: "Synechococcus leopoliensis UTEX 2434" EXACT synonym [] synonym: "Synechococcus PCC 7942" EXACT misspelling [] synonym: "Synechococcus PCC7942" EXACT misspelling [] synonym: "Synechococcus sp. (PCC 7942)" EXACT misspelling [] synonym: "Synechococcus sp. (strain PCC 7942)" EXACT misspelling [] synonym: "Synechococcus sp. IAM M-200" EXACT synonym [] synonym: "Synechococcus sp. PCC 7942" EXACT equivalent_name [] synonym: "Synechococcus sp. PCC7942" EXACT misspelling [] synonym: "Synechocystis sp. PCC 7942" EXACT misspelling [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:114398 name: Parasteatoda tepidariorum namespace: ncbi_taxonomy synonym: "Achaearanea tepidariorum" EXACT synonym [] synonym: "Achaearanea tepidarorum" EXACT misspelling [] synonym: "common house spider" EXACT common_name [] synonym: "Parasteatoda tepidariorum (Koch, 1841)" EXACT synonym [] synonym: "Theridion tepidariorum" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:114524 name: Saccharomyces kudriavzevii namespace: ncbi_taxonomy is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:114525 name: Saccharomyces mikatae namespace: ncbi_taxonomy synonym: "Saccharomyces mikatii" EXACT misspelling [] is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1148 name: Synechocystis sp. PCC 6803 namespace: ncbi_taxonomy synonym: "Aphanocapsa sp. (strain N-1)" EXACT synonym [] synonym: "Aphanocapsa sp. N-1" EXACT synonym [] synonym: "Synechocystis 6803" EXACT misspelling [] synonym: "Synechocystis PCC6803" EXACT misspelling [] synonym: "Synechocystis sp. (ATCC 27184)" EXACT synonym [] synonym: "Synechocystis sp. (PCC 6803)" EXACT equivalent_name [] synonym: "Synechocystis sp. (strain PCC 6803)" EXACT equivalent_name [] synonym: "Synechocystis sp. ATCC 27184" EXACT synonym [] synonym: "Synechocystis sp. PCC6803" EXACT misspelling [] synonym: "Synechocystis sp.PCC6803" EXACT misspelling [] is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:11577 name: La Crosse virus namespace: ncbi_taxonomy synonym: "Bunyavirus la crosse" EXACT synonym [] xref: MeSH:D018062 xref: SNOMEDCT:30434006 is_a: NCBITaxon:10239 ! Virus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:115828 name: Streptomyces maritimus namespace: ncbi_taxonomy synonym: "'Streptomyces maritimus'" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:11588 name: Rift Valley fever virus namespace: ncbi_taxonomy synonym: "RVFV" EXACT acronym [] xref: MeSH:D012296 xref: SNOMEDCT:28335002 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:11590 name: Toscana virus namespace: ncbi_taxonomy synonym: "TOS" EXACT acronym [] synonym: "Toscana virus TOS" EXACT synonym [] synonym: "TOSV" EXACT acronym [] xref: SNOMEDCT:51253001 is_a: NCBITaxon:10239 ! Virus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:11593 name: Crimean-Congo hemorrhagic fever virus namespace: ncbi_taxonomy synonym: "CCHFV" EXACT acronym [] synonym: "Crimean Congo Hemorrhagic Fever virus" EXACT misspelling [] synonym: "Crimean-Congo haemorrhagic fever virus" EXACT synonym [] synonym: "Crimean-Congo hemorrhagic virus" EXACT synonym [] xref: SNOMEDCT:79875007 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:115981 name: Salmonella enterica subsp. enterica serovar Montevideo namespace: ncbi_taxonomy synonym: "Salmonella enterica serovar Montevideo" EXACT synonym [] synonym: "Salmonella montevideo" EXACT synonym [] xref: SNOMEDCT:80268001 is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:11599 name: Hantaan virus namespace: ncbi_taxonomy synonym: "Korean hemorrhagic fever virus" EXACT synonym [] xref: MeSH:D018063 xref: SNOMEDCT:52779006 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:11604 name: Puumala virus namespace: ncbi_taxonomy synonym: "nephropathia epidemica virus" EXACT synonym [] synonym: "Puumala hantavirus" EXACT synonym [] synonym: "Puumala virus PV" EXACT synonym [] synonym: "Puumalavirus" EXACT synonym [] xref: MeSH:D029262 xref: SNOMEDCT:40754006 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:11608 name: Seoul virus namespace: ncbi_taxonomy synonym: "epidemic hemorrhagic fever virus" EXACT synonym [] synonym: "Seoul hantavirus" EXACT synonym [] xref: MeSH:D029263 xref: SNOMEDCT:35439004 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:11613 name: Tomato spotted wilt virus namespace: ncbi_taxonomy synonym: "tomato spotted wilt virus TSWV" EXACT synonym [] synonym: "TSWV" EXACT acronym [] is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:11619 name: Junin virus namespace: ncbi_taxonomy synonym: "Junin arenavirus" EXACT synonym [] xref: MeSH:D018051 xref: SNOMEDCT:26352009 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:11620 name: Lassa virus namespace: ncbi_taxonomy xref: MeSH:D007836 xref: SNOMEDCT:85944001 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:11622 name: Lassa virus Josiah namespace: ncbi_taxonomy synonym: "Lassa virus (strain Josiah)" EXACT synonym [] synonym: "Lassa virus strain Josiah" EXACT synonym [] is_a: NCBITaxon:10239 ! Virus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:11623 name: Lymphocytic choriomeningitis virus namespace: ncbi_taxonomy synonym: "LCMV" EXACT genbank_acronym [] synonym: "lymphocytic choriomeningitis virus LCMV" EXACT synonym [] xref: MeSH:D008217 xref: NCIt:C14230 xref: SNOMEDCT:82518003 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:11628 name: Machupo virus namespace: ncbi_taxonomy xref: SNOMEDCT:71489006 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:11629 name: Mopeia virus namespace: ncbi_taxonomy is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:11631 name: Tacaribe virus namespace: ncbi_taxonomy synonym: "TACV" EXACT acronym [] xref: SNOMEDCT:79405000 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:117187 name: Gibberella moniliformis namespace: ncbi_taxonomy synonym: "Fusarium moniliformae" EXACT misspelling [] synonym: "Fusarium moniliforme" EXACT synonym [] synonym: "Fusarium verticillioides" EXACT anamorph [] xref: SNOMEDCT:57877009 xref: SNOMEDCT:58429004 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:118062 name: Methanobacterium congolense namespace: ncbi_taxonomy xref: SNOMEDCT:433788004 is_a: NCBITaxon:2157 ! Archaea property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:119219 name: Cupriavidus metallidurans namespace: ncbi_taxonomy synonym: "Cupriavidus metallidurans (Goris et al. 2001) Vandamme and Coenye 2004" EXACT synonym [] synonym: "Ralstonia metallidurans" EXACT genbank_synonym [] synonym: "Ralstonia metallidurans Goris et al. 2001" EXACT synonym [] synonym: "Wautersia metallidurans" EXACT synonym [] synonym: "Wautersia metallidurans (Goris et al. 2001) Vaneechoutte et al. 2004" EXACT synonym [] xref: SNOMEDCT:423135006 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:119602 name: Streptococcus dysgalactiae subsp. equisimilis namespace: ncbi_taxonomy synonym: "Streptococcus equisimilis" EXACT synonym [] xref: SNOMEDCT:128338004 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:119676 name: Arthroderma obtusum namespace: ncbi_taxonomy synonym: "Microsporum nanum" EXACT anamorph [] xref: SNOMEDCT:14516005 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:11987 name: Melon necrotic spot virus namespace: ncbi_taxonomy synonym: "melon necrotic spot virus MNSV" EXACT misnomer [] synonym: "MNSV" EXACT acronym [] is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:119912 name: Salmonella enterica subsp. enterica serovar Choleraesuis namespace: ncbi_taxonomy synonym: "Salmonella choleraesuis choleraesuis" EXACT synonym [] synonym: "Salmonella choleraesuis serovar Choleraesuis" EXACT synonym [] synonym: "Salmonella enterica serovar Choleraesuis" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:120794 name: Falco rusticolus namespace: ncbi_taxonomy synonym: "gyrfalcon" EXACT common_name [] xref: SNOMEDCT:1632003 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:12139 name: Southern bean mosaic virus namespace: ncbi_taxonomy synonym: "SBMV" EXACT acronym [] synonym: "southern bean mosaic virus, SBMV" EXACT synonym [] is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:12144 name: Cymbidium ringspot virus namespace: ncbi_taxonomy synonym: "cymbidium ringspot tombusvirus CyRSV" EXACT synonym [] is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:121540 name: Senecio aethnensis namespace: ncbi_taxonomy synonym: "Senecio aethnensis Jan ex DC." EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:121541 name: Senecio chrysanthemifolius namespace: ncbi_taxonomy synonym: "Senecio chrysanthemifolius Poir." EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:121555 name: Senecio squalidus subsp. squalidus namespace: ncbi_taxonomy is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:121558 name: Senecio vulgaris subsp. vulgaris namespace: ncbi_taxonomy is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:121627 name: Penicillium rugulosum namespace: ncbi_taxonomy xref: SNOMEDCT:243522003 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:121759 name: Paracoccidioides brasiliensis namespace: ncbi_taxonomy synonym: "Loboa loboi" EXACT synonym [] xref: SNOMEDCT:61449004 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:12183 name: Potato virus X namespace: ncbi_taxonomy synonym: "potato virus X, PVX" EXACT synonym [] synonym: "PVX" EXACT acronym [] xref: SNOMEDCT:423418004 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1219 name: Prochlorococcus marinus namespace: ncbi_taxonomy synonym: "Prochlorococcus maritima" EXACT misspelling [] xref: SNOMEDCT:434648009 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:12211 name: Plum pox virus namespace: ncbi_taxonomy synonym: "Plum pox potyvirus" EXACT synonym [] synonym: "plum pox virus PPV" EXACT synonym [] synonym: "plum pox virus, PPV" EXACT synonym [] synonym: "PPV" EXACT acronym [] xref: MeSH:D017801 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:12230 name: Turnip mosaic virus namespace: ncbi_taxonomy synonym: "TuMV" EXACT acronym [] synonym: "turnip mosaic potyvirus TuMV" EXACT synonym [] synonym: "turnip mosaic virus, TuMV" EXACT synonym [] is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:12239 name: Pepper mild mottle virus namespace: ncbi_taxonomy synonym: "pepper mild mottle virus PMMV-S" EXACT synonym [] is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:12242 name: Tobacco mosaic virus namespace: ncbi_taxonomy synonym: "TMV" EXACT acronym [] synonym: "tobacco mosaic virus TMV" EXACT synonym [] synonym: "tobacco mosaic virus, TMV" EXACT synonym [] xref: MeSH:D014027 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:122586 name: Neisseria meningitidis MC58 namespace: ncbi_taxonomy synonym: "Neisseria meningitidis serogroup B strain MC58" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:12260 name: Bean pod mottle virus namespace: ncbi_taxonomy synonym: "Bean-pod mottle virus" EXACT synonym [] synonym: "BPMV" EXACT acronym [] is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:12271 name: Arabis mosaic virus namespace: ncbi_taxonomy synonym: "AMV" EXACT acronym [] synonym: "nepovirus arabis mosaic virus ArMV" EXACT synonym [] is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:12280 name: Tomato ringspot virus namespace: ncbi_taxonomy synonym: "TOMRSV" EXACT acronym [] is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:12282 name: Tobacco ringspot virus namespace: ncbi_taxonomy is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:12287 name: Flock house virus namespace: ncbi_taxonomy is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:12295 name: Tobacco rattle virus namespace: ncbi_taxonomy synonym: "Tobacco Rattle Tobravirus" EXACT synonym [] synonym: "tobacco rattle virus TRV" EXACT synonym [] synonym: "tobacco rattle virus, TRV" EXACT synonym [] synonym: "TRV" EXACT acronym [] is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:12305 name: Cucumber mosaic virus namespace: ncbi_taxonomy synonym: "CMV" EXACT acronym [] synonym: "cucumber mosaic cucumovirus" EXACT common_name [] synonym: "cucumber mosaic cucumovirus CMV" EXACT synonym [] synonym: "cucumber mosaic virus CMV" EXACT synonym [] synonym: "cucumber mosaic virus, CMV" EXACT synonym [] is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:12307 name: Cucumber mosaic virus (strain FNY) namespace: ncbi_taxonomy is_a: NCBITaxon:10239 ! Virus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1245 name: Leuconostoc mesenteroides namespace: ncbi_taxonomy synonym: "Ascococcus mesenteroides" EXACT synonym [] synonym: "Betacoccus arabinosaceus" EXACT synonym [] synonym: "Leuconostoc mesanteroides" EXACT misspelling [] xref: NCIt:C86497 xref: SNOMEDCT:71403009 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1247 name: Oenococcus oeni namespace: ncbi_taxonomy synonym: "Leuconostoc blayaisense" EXACT synonym [] synonym: "Leuconostoc oeni" EXACT synonym [] synonym: "Leuconostoc oenos" EXACT synonym [] xref: SNOMEDCT:113893001 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:12538 name: Mokola virus namespace: ncbi_taxonomy synonym: "Mokola lyssavirus" EXACT synonym [] xref: SNOMEDCT:12551003 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1254 name: Pediococcus acidilactici namespace: ncbi_taxonomy synonym: "Pediococcus lindneri" EXACT synonym [] xref: SNOMEDCT:243237003 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:12542 name: Omsk hemorrhagic fever virus namespace: ncbi_taxonomy synonym: "Omsk haemorrhagic fever virus" EXACT synonym [] synonym: "Omsk haemorrhagic fever virus OHF" EXACT synonym [] xref: SNOMEDCT:51439004 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1255 name: Pediococcus pentosaceus namespace: ncbi_taxonomy synonym: "Pediococcus hennebergii" EXACT synonym [] synonym: "Pediococcus hennebergii" EXACT synonym [NCBITaxonRef:Sollied_1903] synonym: "Pediococcus parvulus" EXACT in_part [NCBITaxonRef:Gunther_and_White_1961] synonym: "Pediococcus pentosaceus Mees 1934" EXACT synonym [] synonym: "Tetracoccus No. 2" EXACT synonym [NCBITaxonRef:Orla-Jensen_1919] synonym: "Tetracoccus No. 2" EXACT synonym [] xref: SNOMEDCT:243242006 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1263 name: Ruminococcus namespace: ncbi_taxonomy xref: MeSH:D045857 xref: NCIt:C86729 xref: SNOMEDCT:28907009 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1265 name: Ruminococcus flavefaciens namespace: ncbi_taxonomy xref: SNOMEDCT:13854006 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:126740 name: Thermotoga sp. RQ2 namespace: ncbi_taxonomy is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1270 name: Micrococcus luteus namespace: ncbi_taxonomy synonym: "Bacteridium luteum" EXACT synonym [] synonym: "Micrococcus lysodeikticus" EXACT synonym [] synonym: "Sarcina lutea" EXACT synonym [] xref: MeSH:D016982 xref: NCIt:C86513 xref: SNOMEDCT:48299003 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:12721 name: Human immunodeficiency virus synonym: "AIDS virus" EXACT [] synonym: "HIV" EXACT [] xref: GC_ID:1 is_a: NCBITaxon:10239 ! Virus [Term] id: NCBITaxon:1280 name: Staphylococcus aureus namespace: ncbi_taxonomy synonym: "Micrococcus aureus" EXACT synonym [] synonym: "Micrococcus pyogenes" EXACT synonym [] synonym: "Staphilococcus aureus" EXACT misspelling [] synonym: "Staphlococcus pyogenes citreus" EXACT synonym [] synonym: "Staphylococcus pyogenes aureus" EXACT synonym [] synonym: "Staphylococus aureus" EXACT misspelling [] synonym: "Streptococcus aureus" EXACT misnomer [] xref: MeSH:D013211 xref: NCIt:C50921 xref: SNOMEDCT:3092008 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1281 name: Staphylococcus carnosus namespace: ncbi_taxonomy synonym: "Staphylococcus carnosus Schleifer and Fischer 1982" EXACT synonym [] xref: NCIt:C86754 xref: SNOMEDCT:9784002 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1282 name: Staphylococcus epidermidis namespace: ncbi_taxonomy synonym: "Albococcus epidermidis" EXACT synonym [] synonym: "Micrococcus epidermidis" EXACT synonym [] synonym: "Staphylococcus epidermidis albus" EXACT synonym [] xref: MeSH:D013212 xref: NCIt:C86757 xref: SNOMEDCT:60875001 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1283 name: Staphylococcus haemolyticus namespace: ncbi_taxonomy xref: MeSH:D041162 xref: NCIt:C86761 xref: SNOMEDCT:83452006 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:128735 name: Rosa hybrid cultivar namespace: ncbi_taxonomy synonym: "Rosa hybrida" EXACT synonym [] synonym: "Rosa x hybrida" EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:128947 name: Zaire ebolavirus - Gabon (1994-1997) namespace: ncbi_taxonomy synonym: "Ebola virus (strain Gabon-94)" EXACT synonym [] synonym: "Ebola virus strain Gabon-94" EXACT synonym [] is_a: NCBITaxon:10239 ! Virus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1290391 name: Botrytis cinerea BcDW1 def: "BcDW1 is a Botrytis cinerea isolate recovered in 1992 from grape berries (Vitis vinifera cv. “Sémillon”) in Napa, California and used as source of inoculum to induce noble rot in the production of Dolce Wine (Oakville, CA)." [] synonym: "Botryotinia fuckeliana BcDW1" EXACT [] xref: PMID:23704180 is_a: NCBITaxon:40559 ! Botrytis cinerea property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:129105 name: Drosophila santomea namespace: ncbi_taxonomy is_a: NCBITaxon:7215 ! Drosophila property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1292002 name: Echinochloa glabrescens def: "Echinochloa glabrescens is a C4 grass weed that is very competitive with rice when left uncontrolled." [] xref: PMID:24642568 is_a: NCBITaxon:33090 ! Viridiplantae property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:129213 name: Polytrichum juniperinum namespace: ncbi_taxonomy synonym: "Polytrichum juniperum" EXACT misspelling [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:129394 name: Xanthomonas oryzae pv. oryzicola def: "Xanthomonas oryzae pv. oryzae is a bacterium which causes a serious blight of rice, other grasses and sedges." [] xref: Wikipedia:Xanthomonas_oryzae_pv._oryzae is_a: NCBITaxon:338 ! Xanthomonas property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:1298 name: Deinococcus namespace: ncbi_taxonomy synonym: "Deinobacter" EXACT synonym [] xref: MeSH:D034301 xref: SNOMEDCT:116424004 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1299 name: Deinococcus radiodurans namespace: ncbi_taxonomy synonym: "Deinococcus radiidurans" EXACT equivalent_name [] synonym: "Micrococcus radiodurans" EXACT synonym [] xref: SNOMEDCT:116430004 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1302 name: Streptococcus gordonii namespace: ncbi_taxonomy synonym: "Streptococcus gordonii Kilian et al. 1989" EXACT synonym [] xref: MeSH:D054773 xref: NCIt:C86792 xref: SNOMEDCT:113986004 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1303 name: Streptococcus oralis namespace: ncbi_taxonomy xref: MeSH:D019533 xref: NCIt:C86799 xref: SNOMEDCT:19870004 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:13037 name: Danaus plexippus namespace: ncbi_taxonomy synonym: "American monarch" EXACT common_name [] synonym: "Danaus (Danaus) plexippus" EXACT synonym [] synonym: "monarch butterfly" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1305 name: Streptococcus sanguinis namespace: ncbi_taxonomy synonym: "Streptococcus sanguis" EXACT synonym [] xref: MeSH:D013298 xref: NCIt:C86806 xref: SNOMEDCT:113993000 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1307 name: Streptococcus suis namespace: ncbi_taxonomy xref: MeSH:D017011 xref: NCIt:C86807 xref: SNOMEDCT:7912006 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1308 name: Streptococcus thermophilus namespace: ncbi_taxonomy synonym: "Streptococcus salivarius subsp. thermophilus" EXACT synonym [] synonym: "Streptococcus salivarius thermophilus" EXACT equivalent_name [] xref: MeSH:D048249 xref: NCIt:C86808 xref: SNOMEDCT:23310006 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1309 name: Streptococcus mutans namespace: ncbi_taxonomy synonym: "Staphylococcus mutans" EXACT misnomer [] xref: MeSH:D013295 xref: SNOMEDCT:214001 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:13095 name: Hypophthalmichthys molitrix namespace: ncbi_taxonomy synonym: "Hypophthalamichthys molitrix" EXACT synonym [] synonym: "Leuciscus molitrix" EXACT synonym [] synonym: "silver carp" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1311 name: Streptococcus agalactiae namespace: ncbi_taxonomy synonym: "Streptoccocus de la mammite" EXACT synonym [] synonym: "Streptococcus agalactiae contagiosae" EXACT synonym [] synonym: "Streptococcus difficile" EXACT synonym [] synonym: "Streptococcus difficilis" EXACT synonym [] synonym: "Streptococcus mastitidis" EXACT synonym [] xref: MeSH:D013292 xref: NCIt:C86780 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1313 name: Streptococcus pneumoniae namespace: ncbi_taxonomy synonym: "Diplococcus pneumoniae" EXACT synonym [] synonym: "Micrococcus pneumoniae" EXACT synonym [] xref: MeSH:D013296 xref: NCIt:C76384 xref: SNOMEDCT:9861002 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1314 name: Streptococcus pyogenes namespace: ncbi_taxonomy synonym: "Micrococcus scarlatinae" EXACT synonym [] synonym: "Streptococcus erysipelatos" EXACT synonym [] synonym: "Streptococcus hemolyticus" EXACT synonym [] synonym: "Streptococcus pyrogenes" EXACT misspelling [] synonym: "Streptococcus scarlatinae" EXACT synonym [] xref: MeSH:D013297 xref: NCIt:C86803 xref: SNOMEDCT:80166006 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:13146 name: Melopsittacus undulatus namespace: ncbi_taxonomy synonym: "budgerigar" EXACT common_name [] synonym: "Melopsittacus unduratus" EXACT misnomer [] xref: SNOMEDCT:9574000 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:13164 name: Myzus persicae namespace: ncbi_taxonomy synonym: "green peach aphid" EXACT common_name [] synonym: "Myzus (Nectarosiphon) persicae" EXACT synonym [] synonym: "Myzus persiceae" EXACT misspelling [] synonym: "peach-potato aphid" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1324865 name: Brassica carinata x Brassica rapa def: "Brassica carinata x Brassica rapa is a synthesised trigenomic allohexaploid (AABBCC genome) that could be produced by crossing Brassica carinata (BBCC, 2n = 34) with Brassica rapa (AA, 2n = 20) and followed genome doubling." [] xref: PMID:22309095 is_a: NCBITaxon:33090 ! Viridiplantae property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:132919 name: Rhodococcus jostii namespace: ncbi_taxonomy synonym: "Rhodococcus sp. IFO16295" EXACT misspelling [] xref: SNOMEDCT:438102006 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:13333 name: Amborella trichopoda namespace: ncbi_taxonomy synonym: "Amborella trichopoda Baill." EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1336 name: Streptococcus equi namespace: ncbi_taxonomy xref: MeSH:D018502 xref: NCIt:C86789 xref: SNOMEDCT:12447002 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:13373 name: Burkholderia mallei namespace: ncbi_taxonomy synonym: "Acinetobacter mallei" EXACT synonym [] synonym: "Actinobacillus mallei" EXACT synonym [] synonym: "Bacillus mallei" EXACT synonym [] synonym: "Loefferella mallei" EXACT synonym [] synonym: "Malleomyces mallei" EXACT synonym [] synonym: "Pfeifferella mallei" EXACT synonym [] synonym: "Pseudomonas mallei" EXACT synonym [] xref: MeSH:D042726 xref: NCIt:C86226 xref: SNOMEDCT:113674000 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:13427 name: Cichorium intybus namespace: ncbi_taxonomy synonym: "chicory" EXACT common_name [] synonym: "Cichorium intybus var. foliosum" EXACT synonym [] synonym: "Cychorium intybus" EXACT misspelling [] synonym: "radicchio" EXACT common_name [] synonym: "succory" EXACT common_name [] synonym: "witloof" EXACT common_name [] xref: MeSH:D018651 xref: SNOMEDCT:80033009 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:13442 name: Coffea namespace: ncbi_taxonomy synonym: "coffee" EXACT common_name [] xref: MeSH:D040503 xref: SNOMEDCT:38468004 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:13443 name: Coffea arabica namespace: ncbi_taxonomy synonym: "arabica coffee" EXACT common_name [] synonym: "Coffea arabica L." EXACT synonym [] synonym: "coffee" EXACT common_name [] xref: MeSH:D003069 xref: SNOMEDCT:3007008 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:134821 name: Ureaplasma parvum namespace: ncbi_taxonomy synonym: "Ureaplasma urealyticum biovar 1" EXACT synonym [] xref: SNOMEDCT:438391000 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:13489 name: Dicentrarchus labrax namespace: ncbi_taxonomy synonym: "Dicentrarchus labrax (Linnaeus, 1758)" EXACT synonym [] synonym: "European sea bass" EXACT common_name [] synonym: "European seabass" EXACT common_name [] synonym: "Labrax labrax" EXACT synonym [] synonym: "Morone labrax" EXACT synonym [] synonym: "Perca labrax" EXACT synonym [] synonym: "Perca labrax Linnaeus, 1758" EXACT synonym [] synonym: "Roccus labrax" EXACT synonym [] synonym: "Sciaena labrax" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1351 name: Enterococcus faecalis namespace: ncbi_taxonomy synonym: "Enterococcus proteiformis" EXACT synonym [] synonym: "Enterocoque" EXACT synonym [] synonym: "Micrococcus ovalis" EXACT synonym [] synonym: "Micrococcus zymogenes" EXACT synonym [] synonym: "Streptococcus faecalis" EXACT synonym [] synonym: "Streptococcus glycerinaceus" EXACT synonym [] synonym: "Streptococcus liquefaciens" EXACT synonym [] xref: MeSH:D013293 xref: NCIt:C86368 xref: SNOMEDCT:78065002 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1352 name: Enterococcus faecium namespace: ncbi_taxonomy synonym: "Streptococcus faecium" EXACT synonym [] xref: MeSH:D016984 xref: NCIt:C86369 xref: SNOMEDCT:90272000 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1354 name: Enterococcus hirae namespace: ncbi_taxonomy xref: NCIt:C86371 xref: SNOMEDCT:73852008 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1358 name: Lactococcus lactis namespace: ncbi_taxonomy synonym: "Bacterium lacti" EXACT synonym [] synonym: "Lactococcus lactis (Lohnis) Schleifer et al. 1986" EXACT misnomer [] synonym: "Streptococcus lactis" EXACT synonym [] xref: MeSH:D013294 xref: NCIt:C86485 xref: SNOMEDCT:62079003 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1359 name: Lactococcus lactis subsp. cremoris namespace: ncbi_taxonomy synonym: "Lactobacillus cremoris" EXACT synonym [] synonym: "Lactococcus cremoris" EXACT synonym [] synonym: "Lactococcus lactis (SUBSP. CREMORIS)" EXACT equivalent_name [] synonym: "Lactococcus lactis cremoris" EXACT equivalent_name [] synonym: "Streptococcus cremoris" EXACT synonym [] synonym: "Streptococcus hollandicus" EXACT synonym [] synonym: "Streptococcus lactis B" EXACT synonym [] synonym: "Streptococcus lactis subsp. cremoris" EXACT synonym [] xref: SNOMEDCT:81454004 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1360 name: Lactococcus lactis subsp. lactis namespace: ncbi_taxonomy synonym: "Lactobacillus xylosus" EXACT synonym [] synonym: "Lactococcus lactis (SUBSP. LACTIS)" EXACT synonym [] synonym: "Lactococcus lactis lactis" EXACT equivalent_name [] synonym: "Streptococcus diacetilactis" EXACT synonym [] synonym: "Streptococcus lactis subsp. diacetilactis" EXACT synonym [] synonym: "Streptococcus lactis subsp. lactis" EXACT synonym [] xref: SNOMEDCT:38518005 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:13616 name: Monodelphis domestica namespace: ncbi_taxonomy synonym: "gray short-tailed opossum" EXACT common_name [] synonym: "Monodelphis domesticus" EXACT misspelling [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:136217 name: Curcuma longa namespace: ncbi_taxonomy synonym: "Curcuma domestica" EXACT synonym [] synonym: "Curcuma domestica Valeton" EXACT synonym [] synonym: "Curcuma longa L." EXACT synonym [] synonym: "turmeric" EXACT common_name [] xref: NCIt:C73983 xref: SNOMEDCT:227414003 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1363 name: Lactococcus garvieae namespace: ncbi_taxonomy synonym: "Enterococcus seriolicida" EXACT synonym [] synonym: "Lactococcus garviae" EXACT synonym [] synonym: "Streptococcus garvieae" EXACT synonym [] xref: NCIt:C86484 xref: SNOMEDCT:27716002 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:13642 name: Polysphondylium pallidum namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:13686 name: Solenopsis invicta namespace: ncbi_taxonomy synonym: "imported red fire ant" EXACT common_name [] synonym: "red fire ant" EXACT common_name [] synonym: "red imported fire ant" EXACT common_name [] xref: SNOMEDCT:103572000 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:13689 name: Sphingomonas paucimobilis namespace: ncbi_taxonomy synonym: "Bacillus devorans" EXACT synonym [] synonym: "Chromobacterium devorans" EXACT synonym [] synonym: "Flavobacterium devorans" EXACT synonym [] synonym: "Pseudomonas paucimobilis" EXACT synonym [] xref: NCIt:C86749 xref: SNOMEDCT:243350004 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:137520 name: Hypomesus transpacificus namespace: ncbi_taxonomy synonym: "delta smelt" EXACT common_name [] xref: SNOMEDCT:15247005 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:13773 name: Pyrobaculum aerophilum namespace: ncbi_taxonomy xref: SNOMEDCT:440824008 is_a: NCBITaxon:2157 ! Archaea property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:13816 name: Marsilea quadrifolia namespace: ncbi_taxonomy synonym: "European water clover" EXACT common_name [] synonym: "Marsilea quadrifolia L." EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:13894 name: Cocos nucifera xref: SNOMEDCT:38057009 is_a: NCBITaxon:2759 ! Eukaryota [Term] id: NCBITaxon:139 name: Borrelia burgdorferi namespace: ncbi_taxonomy synonym: "Borrelia burdorferi" EXACT misspelling [] synonym: "Borrelia burgdorferi sensu stricto" EXACT equivalent_name [] synonym: "Borrelia burgdorffragment" EXACT misspelling [] synonym: "Lyme disease spirochete" EXACT common_name [] xref: MeSH:D025065 xref: NCIt:C76208 xref: SNOMEDCT:76327009 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1390 name: Bacillus amyloliquefaciens namespace: ncbi_taxonomy synonym: "Bacillus amyloliquifaciens" EXACT synonym [] synonym: "Bacillus velesensis" EXACT misspelling [] synonym: "Bacillus velezensis" EXACT genbank_synonym [] xref: SNOMEDCT:82289003 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1392 name: Bacillus anthracis namespace: ncbi_taxonomy synonym: "anthrax" EXACT common_name [] synonym: "anthrax bacterium" EXACT common_name [] synonym: "Bacillus cereus var. anthracis" EXACT synonym [] synonym: "Bacteridium anthracis" EXACT synonym [] xref: ICD9:022 xref: MeSH:D001408 xref: NCIt:C86160 xref: SNOMEDCT:21927003 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1396 name: Bacillus cereus namespace: ncbi_taxonomy synonym: "Bacillus endorhythmos" EXACT synonym [] synonym: "Bacillus medusa" EXACT synonym [] xref: MeSH:D001409 xref: NCIt:C86161 xref: SNOMEDCT:84408007 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:139649 name: Teleopsis dalmanni namespace: ncbi_taxonomy synonym: "Cyrtodiopsis dalmanii" EXACT misspelling [] synonym: "Cyrtodiopsis dalmanni" EXACT genbank_synonym [] synonym: "Cyrtodiopsis dalmanni (Wiedemann, 1830)" EXACT synonym [] synonym: "Diopsis dalmanni" EXACT synonym [] synonym: "Diopsis dalmanni Wiedemann, 1830" EXACT synonym [] synonym: "Teleopsis dalmanni (Wiedemann, 1830)" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:139650 name: Teleopsis quinqueguttata namespace: ncbi_taxonomy synonym: "Cyrtodiopsis quinqueguttata" EXACT genbank_synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:139651 name: Teleopsis whitei namespace: ncbi_taxonomy synonym: "Cyrtodiopsis whitei" EXACT genbank_synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:141655 name: Cervus elaphus hispanicus namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:141969 name: Oscheius tipulae is_a: NCBITaxon:55887 ! Rhabditinae [Term] id: NCBITaxon:1423 name: Bacillus subtilis namespace: ncbi_taxonomy synonym: "Bacillus globigii" EXACT synonym [] synonym: "Bacillus natto" EXACT synonym [] synonym: "Bacillus subtilis8" EXACT misspelling [] synonym: "Bacillus uniflagellatus" EXACT synonym [] synonym: "Vibrio subtilis" EXACT synonym [] xref: MeSH:D001412 xref: NCIt:C86167 xref: SNOMEDCT:83512007 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1428 name: Bacillus thuringiensis namespace: ncbi_taxonomy synonym: "Bacillus cereus var. thuringiensis" EXACT synonym [] synonym: "Bacillus thuringiensi" EXACT misspelling [] xref: MeSH:D001413 xref: SNOMEDCT:64840009 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:143451 name: Plasmopara viticola def: "Plasmopara viticola, the causal agent of grapevine downy mildew, is a heterothallic oomycete that overwinters as oospores in leaf litter and soil." [] xref: Wikipedia:Plasmopara_viticola is_a: NCBITaxon:4762 ! Oomycetes property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:143623 name: Maylandia namespace: ncbi_taxonomy synonym: "Metriaclima" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:145942 name: Ophrys fusca namespace: ncbi_taxonomy synonym: "Ophrys fusca Link" EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:146500 name: Watermelon mosaic virus namespace: ncbi_taxonomy synonym: "Watermelon mosaic virus 2" EXACT synonym [] synonym: "watermelon mosaic virus 2, WMV2" EXACT synonym [] synonym: "Watermelon mosaic virus ii" EXACT synonym [] synonym: "WMV2" EXACT acronym [] is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:146821 name: Streptomyces reticuliscabiei namespace: ncbi_taxonomy xref: SNOMEDCT:437770008 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:147452 name: Staphylococcus saprophyticus subsp. saprophyticus namespace: ncbi_taxonomy is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1480153 name: Marchantia polymorpha subsp. polymorpha def: "Marchantia polymorpha subsp. polymorpha is one of the three subspecies of Marchantia polymorpha." [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:148305 name: Magnaporthe grisea namespace: ncbi_taxonomy synonym: "Magnaportha grisea" EXACT misspelling [] synonym: "Magnaporthe grisea (T.T. Hebert) M.E. Barr" EXACT synonym [] synonym: "Pyricularia grisea" EXACT genbank_anamorph [] synonym: "Pyricularia grisea (Cooke) Sacc." EXACT synonym [] xref: MeSH:D055685 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1488 name: Clostridium acetobutylicum namespace: ncbi_taxonomy synonym: "Clostridium acetobutyricum" EXACT synonym [] synonym: "Clostridium acetonobutylicum" EXACT synonym [] synonym: "Granulobacter pectinovorum" EXACT synonym [] xref: MeSH:D046969 xref: NCIt:C86269 xref: SNOMEDCT:74072007 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1491 name: Clostridium botulinum namespace: ncbi_taxonomy synonym: "Bacillus botulinus" EXACT synonym [] synonym: "Bacillus botulinus" EXACT synonym [NCBITaxonRef:van_Ermengem_1896] synonym: "Bacillus putrificus" EXACT synonym [NCBITaxonRef:Trevisan_1889_Bienstock_1899] synonym: "Bacillus putrificus" EXACT synonym [] synonym: "Botulobacillus botulinus" EXACT synonym [] synonym: "Botulobacillus botulinus" EXACT synonym [NCBITaxonRef:van_Ermengem_1896_Orla-Jensen_1909] synonym: "Clostridium botulinum (van Ermengem 1896) Bergey et al. 1923" EXACT synonym [] synonym: "Clostridium putrificum" EXACT synonym [] synonym: "Clostridium putrificum (Trevisan 1889) Reddish and Rettger 1922 (Approved Lists 1980)" EXACT synonym [] synonym: "Ermengemillus botulinus" EXACT synonym [NCBITaxonRef:van_Ermengem_1896_Heller_1922] synonym: "Ermengemillus botulinus" EXACT synonym [] synonym: "Pacinia putrifica" EXACT synonym [] synonym: "Pacinia putrifica" EXACT synonym [NCBITaxonRef:Trevisan_1889] xref: MeSH:D003014 xref: NCIt:C86289 xref: SNOMEDCT:13080008 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1492 name: Clostridium butyricum namespace: ncbi_taxonomy synonym: "Amylobacter navicula" EXACT synonym [] synonym: "Bacillus amylobacter" EXACT synonym [] synonym: "Bacillus butyricus" EXACT synonym [] synonym: "Bacillus navicula" EXACT synonym [] synonym: "Bacterium navicula" EXACT synonym [] synonym: "Clostridium naviculum" EXACT synonym [] synonym: "Clostridium pseudotetanicum" EXACT synonym [] synonym: "Metallacter amylobacter" EXACT synonym [] xref: MeSH:D046972 xref: NCIt:C86273 xref: SNOMEDCT:19084008 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:149539 name: Salmonella enterica subsp. enterica serovar Enteritidis namespace: ncbi_taxonomy synonym: "Bacillus enteritidis" EXACT synonym [] synonym: "Salmonella enterica serovar Enteritidis" EXACT synonym [] synonym: "Salmonella enteritidis" EXACT genbank_synonym [] xref: MeSH:D012477 xref: SNOMEDCT:73525009 is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1496 name: Clostridium difficile namespace: ncbi_taxonomy synonym: "[Clostridium] difficile" EXACT equivalent_name [] synonym: "Bacillus difficilis" EXACT synonym [] xref: MeSH:D016360 xref: NCIt:C76276 xref: SNOMEDCT:5933001 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1502 name: Clostridium perfringens namespace: ncbi_taxonomy synonym: "'Clostridium plagarum'" EXACT synonym [] synonym: "Bacillus perfringens" EXACT synonym [] synonym: "Bacterium welchii" EXACT synonym [] synonym: "Clostridium plagarum" EXACT synonym [] xref: MeSH:D003016 xref: NCIt:C86288 xref: SNOMEDCT:8331005 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1509 name: Clostridium sporogenes namespace: ncbi_taxonomy synonym: "Bacillus sporogenes var. A" EXACT synonym [NCBITaxonRef:Metchnikoff_1908] synonym: "Bacillus sporogenes var. A" EXACT synonym [] synonym: "Clostridium sporogenes" EXACT synonym [NCBITaxonRef:Heller_1922_Bergey_et_al._1923] synonym: "Clostridium sporogenes (Metchnikoff 1908) Bergey et al. 1923" EXACT synonym [] synonym: "Clostridium sporogenes var. A" EXACT synonym [] synonym: "Clostridium sporogenes var. A" EXACT synonym [NCBITaxonRef:Metchnikoff_1908_Prevot_1938] synonym: "Metchnikovillus sporogenes" EXACT synonym [NCBITaxonRef:sic_Heller_1922] synonym: "Metchnikovillus sporogenes" EXACT synonym [] xref: NCIt:C86294 xref: SNOMEDCT:41468005 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1513 name: Clostridium tetani namespace: ncbi_taxonomy synonym: "Bacillus tetani" EXACT synonym [] synonym: "Bacillus tetani" EXACT synonym [NCBITaxonRef:Flugge_1886] synonym: "Clostridium tetani (Flugge 1886) Bergey et al. 1923" EXACT synonym [] xref: MeSH:D003017 xref: NCIt:C86298 xref: SNOMEDCT:30917009 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1520 name: Clostridium beijerinckii namespace: ncbi_taxonomy synonym: "Clostridium beijerinckii Donker 1926 (Approved Lists 1980) emend. Keis et al. 2001" EXACT synonym [] synonym: "Clostridium rubrum" EXACT synonym [] synonym: "Clostridium rubrum" EXACT synonym [NCBITaxonRef:Ng_and_Vaughn_1963] xref: MeSH:D046970 xref: NCIt:C86271 xref: SNOMEDCT:9766004 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:152263 name: Xanthomonas translucens pv. cerealis def: "Xanthomonas translucens pv. cerealis is the causal agent of bacterial leaf streak on true grasses. Xanthomonas translucens pv. cerealis has been found on crops, like wheat (Triticum spp.), barley (Hordeum spp.), and rye (Secale cereale), and it also naturally occurs on smooth bromegrass and quack grass." [] xref: PMID:25676771 is_a: NCBITaxon:338 ! Xanthomonas property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:152331 name: Lactobacillus parabuchneri namespace: ncbi_taxonomy synonym: "Lactobacillus ferintoshensis" EXACT synonym [] synonym: "Lactobacillus ferintoshensis Simpson et al. 2002" EXACT synonym [] synonym: "Lactobacillus parabuchneri Farrow et al. 1989" EXACT synonym [] xref: SNOMEDCT:113791007 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:152480 name: Burkholderia ambifaria namespace: ncbi_taxonomy synonym: "Burkholderia ambifaria Coenye et al. 2001" EXACT synonym [] synonym: "Burkholderia cepacia (Palleroni and Holmes 1981) Yabuuchi et al. 1993 genomovar VII" EXACT synonym [] synonym: "Burkholderia cepacia complex genomovar VII" EXACT synonym [] xref: SNOMEDCT:416467009 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1534 name: Clostridium kluyveri namespace: ncbi_taxonomy xref: MeSH:D047010 xref: SNOMEDCT:22937005 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:153609 name: Moniliophthora perniciosa namespace: ncbi_taxonomy synonym: "Crinipellis perniciosa" EXACT genbank_synonym [] synonym: "Marasmius perniciosus" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:15368 name: Brachypodium distachyon namespace: ncbi_taxonomy is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:15371 name: Bromus inermis namespace: ncbi_taxonomy synonym: "awnless brome grass" EXACT common_name [] synonym: "Bromopsis inermis" EXACT synonym [] synonym: "Bromopsis inermis (Leyss.) Holub" EXACT synonym [] synonym: "Bromus inermis Leyss." EXACT synonym [] synonym: "Hungarian brome grass" EXACT common_name [] synonym: "smooth brome grass" EXACT common_name [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:153939 name: uncultured sulfate-reducing bacterium namespace: ncbi_taxonomy synonym: "uncultured sulphate-reducing bacterium" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1547544 name: Pithomyces chartarum namespace: ncbi_taxonomy comment: Entry Merged. Taxid 55173 was merged into taxid 1547544 on January 6, 2016. synonym: "Leptosphaerulina chartarum" EXACT [] synonym: "Pithomyces chartarum" EXACT anamorph [] xref: SNOMEDCT:75806004 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:155864 name: Escherichia coli O157:H7 str. EDL933 namespace: ncbi_taxonomy synonym: "Escherichia coli 0157:H7 EDL933" EXACT misspelling [] synonym: "Escherichia coli O157:H7 EDL933" EXACT equivalent_name [] synonym: "Escherichia coli O157:H7 strain EDL933" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:155892 name: Caulobacter vibrioides namespace: ncbi_taxonomy synonym: "Caulobacter crescens" EXACT misspelling [] synonym: "Caulobacter crescentus" EXACT genbank_synonym [] synonym: "Caulobacter crescentus Poindexter 1964" EXACT synonym [] synonym: "Caulobacter vibrioides Henrici and Johnson 1935" EXACT synonym [] synonym: "Caulobacter vibroides" EXACT misspelling [] xref: MeSH:D016935 xref: SNOMEDCT:431375005 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:155900 name: uncultured organism namespace: ncbi_taxonomy is_a: OBI:0100026 ! organism property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1561 name: Clostridium baratii namespace: ncbi_taxonomy synonym: "Acuformis perennis" EXACT synonym [] synonym: "Acuformis perennis" EXACT synonym [NCBITaxonRef:Prevot_1940] synonym: "Clostridium barati" EXACT synonym [] synonym: "Clostridium baratii corrig. (Prevot 1938) Holdeman and Moore 1970" EXACT synonym [] synonym: "Clostridium paraperfringens" EXACT synonym [] synonym: "Clostridium paraperfringens Nakamura et al. 1970 (Approved Lists 1980)" EXACT synonym [] synonym: "Clostridium perenne" EXACT synonym [] synonym: "Clostridium perenne (Prevot 1940) McClung and McCoy 1957 (Approved Lists 1980)" EXACT synonym [] synonym: "Inflabilis barati" EXACT in_part [] synonym: "Inflabilis barati" EXACT in_part [NCBITaxonRef:sic_Prevot_1938] xref: NCIt:C86270 xref: SNOMEDCT:31169007 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:156230 name: Karenia brevis namespace: ncbi_taxonomy synonym: "Gymnodinium breve" EXACT synonym [] synonym: "Karena brevis" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:156532 name: Lilium hybrid division I namespace: ncbi_taxonomy is_a: NCBITaxon:33090 ! Viridiplantae property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1578 name: Lactobacillus namespace: ncbi_taxonomy xref: MeSH:D007778 xref: NCIt:C76352 xref: SNOMEDCT:43690008 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1579 name: Lactobacillus acidophilus namespace: ncbi_taxonomy synonym: "Bacillus acidophilus" EXACT synonym [] synonym: "Thermobacterium intestinale" EXACT synonym [] xref: MeSH:D007779 xref: NCIt:C86474 xref: SNOMEDCT:45707005 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:158 name: Treponema denticola namespace: ncbi_taxonomy synonym: "Spirillum dentium" EXACT synonym [] synonym: "Spirochaeta ambigua" EXACT synonym [] synonym: "Spirochaeta comandonii" EXACT synonym [] synonym: "Spirochaeta dentium" EXACT synonym [] synonym: "Spirochaeta microdentium" EXACT synonym [] synonym: "Spirochaeta orthodonta" EXACT synonym [] synonym: "Spirochaete denticola" EXACT synonym [] synonym: "Spirochaete dentium" EXACT synonym [] synonym: "Spironema dentium" EXACT synonym [] synonym: "Treponema ambiguum" EXACT synonym [] synonym: "Treponema comandonii" EXACT synonym [] synonym: "Treponema dentium" EXACT synonym [] synonym: "Treponema dentium-stenogyratum" EXACT synonym [] synonym: "Treponema microdentium" EXACT synonym [] synonym: "Treponema orthodontum" EXACT synonym [] xref: MeSH:D048373 xref: SNOMEDCT:4099006 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1580 name: Lactobacillus brevis namespace: ncbi_taxonomy synonym: "Bacillus casei g" EXACT synonym [] synonym: "Bacillus g" EXACT synonym [] synonym: "Betabacterium breve" EXACT synonym [] synonym: "Lactobacterium breve" EXACT synonym [] xref: MeSH:D052196 xref: NCIt:C86475 xref: SNOMEDCT:90396007 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1581 name: Lactobacillus buchneri namespace: ncbi_taxonomy synonym: "Bacillus Buchneri" EXACT synonym [] synonym: "Bacterium buchneri" EXACT synonym [] synonym: "Lactobacterium buchneri" EXACT synonym [] synonym: "Ulvina buchneri" EXACT synonym [] xref: SNOMEDCT:49217007 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:15819 name: Saccharum sp. namespace: ncbi_taxonomy is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1582 name: Lactobacillus casei namespace: ncbi_taxonomy synonym: "Bacillus a" EXACT synonym [] synonym: "Bacillus casei a" EXACT synonym [] synonym: "Bacterium casei a" EXACT synonym [] synonym: "Caseobacterium vulgare" EXACT synonym [] synonym: "Lactobacillus casei casei" EXACT synonym [] synonym: "Lactobacillus casei subsp. casei" EXACT synonym [] synonym: "Streptobacterium casei" EXACT synonym [] xref: MeSH:D007780 xref: NCIt:C86476 xref: SNOMEDCT:1017006 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1583 name: Weissella confusa namespace: ncbi_taxonomy synonym: "Lactobacillus confusa (sic)" EXACT synonym [] synonym: "Lactobacillus confusus" EXACT synonym [] synonym: "Lactobacillus coprophilus subsp. confusus" EXACT synonym [] xref: SNOMEDCT:113639001 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1584 name: Lactobacillus delbrueckii namespace: ncbi_taxonomy synonym: "Bacillus acidificans longissimus" EXACT synonym [] synonym: "Bacillus acidificans longissimus" EXACT synonym [NCBITaxonRef:Lafar_1896] synonym: "Bacillus Delbrucki" EXACT synonym [] synonym: "Bacillus Delbrucki" EXACT synonym [NCBITaxonRef:sic_Leichmann_1896] synonym: "Bacterium delbrucki" EXACT synonym [] synonym: "Bacterium delbrucki" EXACT synonym [NCBITaxonRef:sic_Leichmann_1896_Migula_1900] synonym: "Lactobacillus delbrucki" EXACT synonym [] synonym: "Lactobacillus delbrucki" EXACT synonym [NCBITaxonRef:sic_Leichmann_1896_Beijerinck_1901] synonym: "Lactobacillus delbrueckii (Leichmann 1896) Beijerinck 1901" EXACT synonym [] synonym: "Lactobacillus delbrueckii Beijerinck 1901" EXACT synonym [] synonym: "Lactobacillus delbruekii" EXACT misspelling [] synonym: "Lactobacterium delbrucki" EXACT synonym [] synonym: "Lactobacterium delbrucki" EXACT synonym [NCBITaxonRef:sic_Leichmann_1896_van_Steenberge_1920] synonym: "Plocamobacterium delbrucki" EXACT synonym [NCBITaxonRef:sic_Leichmann_1896_Pribram_1933] synonym: "Plocamobacterium delbrucki" EXACT synonym [] synonym: "Thermobacterium cereale" EXACT synonym [NCBITaxonRef:Orla-Jensen_1919] synonym: "Thermobacterium cereale" EXACT synonym [] synonym: "Ulvina delbrucki" EXACT synonym [NCBITaxonRef:sic_Leichmann_1896_Pribram_1933] synonym: "Ulvina delbrucki" EXACT synonym [] xref: MeSH:D048668 xref: SNOMEDCT:5197002 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:158441 name: Folsomia candida namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1585 name: Lactobacillus delbrueckii subsp. bulgaricus namespace: ncbi_taxonomy synonym: "Lactobacillus bulgaricus" EXACT synonym [] synonym: "Lactobacillus delbrueckii (SUBSP. BULGARICUS)" EXACT synonym [] synonym: "Lactobacillus delbrueckii bulgaricus" EXACT synonym [] synonym: "Thermobacterium bulgaricum" EXACT synonym [] xref: SNOMEDCT:76279008 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:158543 name: Aristolochia fimbriata namespace: ncbi_taxonomy synonym: "Aristolochia fimbriata Cham." EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1587 name: Lactobacillus helveticus namespace: ncbi_taxonomy synonym: "Bacillus casei e" EXACT synonym [] synonym: "Bacillus e" EXACT synonym [] synonym: "Caseobacterium e" EXACT synonym [] synonym: "Lactobacillus helveticum" EXACT synonym [] synonym: "Lactobacillus suntoryeus" EXACT synonym [] synonym: "Lactobacterium helveticum" EXACT synonym [] synonym: "Plocamobacterium helveticum" EXACT synonym [] synonym: "Thermobacterium helveticum" EXACT synonym [] xref: MeSH:D052198 xref: SNOMEDCT:23029008 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1588 name: Lactobacillus hilgardii namespace: ncbi_taxonomy synonym: "Lactobacillus hilgardii Douglas and Cruess 1936" EXACT synonym [] synonym: "Lactobacillus Type II" EXACT synonym [NCBITaxonRef:Fornachon_1943] synonym: "Lactobacillus Type II" EXACT synonym [] xref: SNOMEDCT:7224005 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:158878 name: Staphylococcus aureus subsp. aureus Mu50 namespace: ncbi_taxonomy synonym: "Staphylococcus aureus (strain Mu50 / ATCC 700699)" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:158879 name: Staphylococcus aureus subsp. aureus N315 namespace: ncbi_taxonomy synonym: "Staphylococcus aureus (strain N315)" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:158899 name: Collimonas fungivorans namespace: ncbi_taxonomy synonym: "Collimonas group B" EXACT synonym [] synonym: "Collimonas group C" EXACT synonym [] synonym: "Collimonas Ter266" EXACT misspelling [] xref: SNOMEDCT:433920003 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1589 name: Lactobacillus pentosus namespace: ncbi_taxonomy xref: SNOMEDCT:10794001 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1590 name: Lactobacillus plantarum namespace: ncbi_taxonomy synonym: "Lactobacillus arabinosus" EXACT synonym [] synonym: "Lactobacillus arizonae" EXACT equivalent_name [] synonym: "Lactobacillus arizonensis" EXACT synonym [] synonym: "Lactobacillus plantari" EXACT synonym [] synonym: "Lactobacterium plantarum" EXACT synonym [] synonym: "Streptobacterium plantarum" EXACT synonym [] xref: MeSH:D048191 xref: SNOMEDCT:14332009 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1596 name: Lactobacillus gasseri namespace: ncbi_taxonomy xref: SNOMEDCT:71158000 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1597 name: Lactobacillus paracasei namespace: ncbi_taxonomy xref: SNOMEDCT:113792000 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1598 name: Lactobacillus reuteri namespace: ncbi_taxonomy synonym: "Lactobacilllus reuteri" EXACT misspelling [] synonym: "Lactobacillus fermentum biotype II" EXACT synonym [] synonym: "Lactobacillus fermentum subsp. reuteri" EXACT synonym [] xref: MeSH:D052200 xref: SNOMEDCT:86271002 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1599 name: Lactobacillus sakei namespace: ncbi_taxonomy synonym: "Lactobacillus bavaricus" EXACT synonym [] synonym: "Lactobacillus bavaricus Stetter and Stetter 1980" EXACT synonym [] synonym: "Lactobacillus sake" EXACT synonym [] synonym: "Lactobacillus sakei corrig. Katagiri et al. 1934 (Approved Lists 1980) emend. Klein et al. 1996" EXACT synonym [] xref: SNOMEDCT:39861009 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:160 name: Treponema pallidum namespace: ncbi_taxonomy synonym: "Microspironema pallidum" EXACT synonym [] synonym: "Spirillum pallidum" EXACT synonym [] synonym: "Spirochaeta pallida" EXACT synonym [] synonym: "Spironema pallidum" EXACT synonym [] xref: MeSH:D014210 xref: NCIt:C86825 xref: SNOMEDCT:72904005 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1602 name: Lactobacillus alimentarius namespace: ncbi_taxonomy synonym: "Lactobacillus alimentarius (ex Reuter 1970) Reuter 1983" EXACT synonym [] xref: SNOMEDCT:42585007 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1604 name: Lactobacillus amylovorus namespace: ncbi_taxonomy synonym: "Lactobacillus acidophilus group A3" EXACT synonym [] synonym: "Lactobacillus amylovorous" EXACT misspelling [] synonym: "Lactobacillus sobrius" EXACT synonym [] xref: SNOMEDCT:9534006 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:160488 name: Pseudomonas putida KT2440 namespace: ncbi_taxonomy synonym: "Pseudomonas putida (strain KT2440)" EXACT synonym [] synonym: "Pseudomonas putida str. KT2440" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:160492 name: Xylella fastidiosa 9a5c namespace: ncbi_taxonomy is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:160699 name: Agrobacterium larrymoorei namespace: ncbi_taxonomy synonym: "Rhizobium larrymoorei" EXACT genbank_synonym [] xref: SNOMEDCT:438106009 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1612 name: Lactobacillus farciminis namespace: ncbi_taxonomy xref: SNOMEDCT:45305000 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1613 name: Lactobacillus fermentum namespace: ncbi_taxonomy synonym: "Bacillus casei d" EXACT synonym [] synonym: "Bacillus d" EXACT synonym [] synonym: "Lactobacillus cellobiosus" EXACT synonym [] synonym: "Lactobacillus fermenti" EXACT misspelling [] synonym: "Lactobacterium fermentum" EXACT synonym [] xref: MeSH:D052197 xref: NCIt:C86478 xref: SNOMEDCT:65506008 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1614 name: Lactobacillus fructivorans namespace: ncbi_taxonomy xref: SNOMEDCT:32772008 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1624 name: Lactobacillus salivarius namespace: ncbi_taxonomy synonym: "Lactobacillus salivarus" EXACT misspelling [] xref: NCIt:C86482 xref: SNOMEDCT:37809002 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:162425 name: Emericella nidulans namespace: ncbi_taxonomy synonym: "A. nidulans" EXACT misspelling [] synonym: "Aspergillus nidulans" EXACT genbank_anamorph [] synonym: "Aspergillus nidulellus" EXACT synonym [] synonym: "Aspergilus nidulans" EXACT misspelling [] xref: MeSH:D001233 xref: SNOMEDCT:71886006 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1625 name: Lactobacillus sanfranciscensis namespace: ncbi_taxonomy synonym: "Lactobacillus sanfrancisco" EXACT synonym [] xref: SNOMEDCT:432195008 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1639 name: Listeria monocytogenes namespace: ncbi_taxonomy synonym: "Bacterium monocytogenes" EXACT synonym [] synonym: "Bacterium monocytogenes hominis" EXACT synonym [] synonym: "Corynebacterium infantisepticum" EXACT synonym [] synonym: "Corynebacterium parvulum" EXACT synonym [] synonym: "Erysipelothrix monocytogenes" EXACT synonym [] synonym: "Listerella hepatolytica" EXACT synonym [] synonym: "Lysteria monocytogenes" EXACT misspelling [] xref: MeSH:D008089 xref: NCIt:C86502 xref: SNOMEDCT:36094007 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:164110 name: Nicotiana langsdorffii x Nicotiana sanderae namespace: ncbi_taxonomy is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1642 name: Listeria innocua namespace: ncbi_taxonomy synonym: "Listeria innocua Seeliger 1983" EXACT misnomer [] xref: NCIt:C86500 xref: SNOMEDCT:48331004 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:165597 name: Crocosphaera watsonii WH 8501 namespace: ncbi_taxonomy synonym: "Crocosphaera watsonii WH8501" EXACT misspelling [] synonym: "Synechocystis sp. WH 8501" EXACT genbank_synonym [] synonym: "Synechocystis sp. WH8501" EXACT misspelling [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:166361 name: Onthophagus taurus namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:167481 name: Lactobacillus mindensis namespace: ncbi_taxonomy synonym: "Lactobacillus mindensis Ehrmann et al. 2003" EXACT synonym [] xref: SNOMEDCT:431290006 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:167542 name: Prochlorococcus marinus str. MIT 9515 namespace: ncbi_taxonomy is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1678 name: Bifidobacterium namespace: ncbi_taxonomy synonym: "Bifidibacterium" EXACT synonym [] synonym: "Tissieria" EXACT synonym [] xref: MeSH:D001644 xref: NCIt:C86194 xref: SNOMEDCT:5912005 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1681 name: Bifidobacterium bifidum namespace: ncbi_taxonomy synonym: "Actinobacterium bifidum" EXACT synonym [] synonym: "Actinomyces bifidus" EXACT synonym [] synonym: "Actinomyces parabifidus" EXACT synonym [] synonym: "Bacillus bifidus" EXACT synonym [] synonym: "Bacillus bifidus communis" EXACT synonym [] synonym: "Bacterium bifidum" EXACT synonym [] synonym: "Bacteroides bifidus" EXACT synonym [] synonym: "Bifidibacterium bifidum" EXACT synonym [] synonym: "Cohnistreptothrix bifidus" EXACT synonym [] synonym: "Lactobacillus bifidus type II" EXACT synonym [] synonym: "Lactobacillus parabifidus" EXACT synonym [] synonym: "Nocardia bifida" EXACT synonym [] synonym: "Tissieria bifida" EXACT synonym [] xref: NCIt:C86197 xref: SNOMEDCT:27108000 xref: SNOMEDCT:703929005 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:168172 name: Puccinia striiformis f. sp. tritici def: "Puccinia striiformis f. sp. tritici is the causal agent of stripe (yellow) rust, a serious disease of wheat occurring in most wheat areas with cool and moist weather conditions during the growing season." [] xref: PMID:24373199 is_a: NCBITaxon:4751 ! Fungi property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:1685 name: Bifidobacterium breve namespace: ncbi_taxonomy synonym: "Bifidobacterium parvulorum" EXACT synonym [] xref: SNOMEDCT:35011006 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:169388 name: Fusarium solani namespace: ncbi_taxonomy synonym: "Fusarium solan" EXACT misspelling [] xref: SNOMEDCT:46351008 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:169963 name: Listeria monocytogenes EGD-e namespace: ncbi_taxonomy synonym: "Listeria monocytogenes ATCC BAA-679" EXACT synonym [] synonym: "Listeria monocytogenes EGDe" EXACT equivalent_name [] synonym: "Listeria monocytogenes str. EGD-e" EXACT equivalent_name [] synonym: "Listeria monocytogenes strain EGD-e" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:170187 name: Streptococcus pneumoniae TIGR4 namespace: ncbi_taxonomy is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1703 name: Brevibacterium linens namespace: ncbi_taxonomy synonym: "Bacterium linens" EXACT synonym [] synonym: "Bacterium linens" EXACT synonym [NCBITaxonRef:Wolff_1910] synonym: "Brevibacterium linens (Wolff 1910) Breed 1953" EXACT synonym [] xref: SNOMEDCT:112278004 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:171101 name: Streptococcus pneumoniae R6 namespace: ncbi_taxonomy synonym: "Streptococcus pneumoniae (strain ATCC BAA-255 / R6)" EXACT synonym [] synonym: "Streptococcus pneumoniae str. R6" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1717 name: Corynebacterium diphtheriae namespace: ncbi_taxonomy synonym: "Bacillus diphtheriae" EXACT synonym [] synonym: "Bacterium diphtheriae" EXACT synonym [] synonym: "Microsporon diphthericum" EXACT synonym [] synonym: "Microsporon diphtheriticum" EXACT synonym [] synonym: "Mycobacterium diphtheriae" EXACT synonym [] synonym: "Pacinia loeffleri" EXACT synonym [] xref: MeSH:D003353 xref: NCIt:C86312 xref: SNOMEDCT:5851001 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1718 name: Corynebacterium glutamicum namespace: ncbi_taxonomy synonym: "'Brevibacterium lactofermentum'" EXACT synonym [] synonym: "'Corynebacterium lactofermentum'" EXACT synonym [] synonym: "Brevibacterium chang-fua" EXACT synonym [] synonym: "Brevibacterium divaricatum" EXACT synonym [] synonym: "Brevibacterium divaricatum Su and Yamada 1960 (Approved Lists 1980)" EXACT synonym [] synonym: "Brevibacterium glutamigenes" EXACT synonym [] synonym: "Brevibacterium lactofermentum" EXACT synonym [] synonym: "Brevibacterium saccharolyticum" EXACT synonym [] synonym: "Brevibacterium seonmiso" EXACT synonym [] synonym: "Brevibacterium taipei" EXACT synonym [] synonym: "Brevibacterium thiogenitalis" EXACT synonym [] synonym: "Cornyebacterium lactofermentum" EXACT misspelling [] synonym: "Corymebacterium glutamicum" EXACT misspelling [] synonym: "Corynebacterium glutamicum (Kinoshita et al. 1958) Abe et al. 1967" EXACT synonym [] synonym: "Corynebacterium lactofermentum" EXACT synonym [] synonym: "Corynebacterium lilium" EXACT synonym [] synonym: "Corynebacterium lilium Lee and Good 1963 (Approved Lists 1980)" EXACT synonym [] synonym: "Micrococcus glutamicus" EXACT synonym [NCBITaxonRef:Kinoshita_et_al._1958] synonym: "Micrococcus glutamicus" EXACT synonym [] synonym: "Micrococcus maripuniceus" EXACT synonym [] xref: MeSH:D048230 xref: SNOMEDCT:89651003 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:171953 name: uncultured Acidobacteria bacterium namespace: ncbi_taxonomy synonym: "uncultured Acidobacteria" EXACT equivalent_name [] synonym: "Uncultured acidobacterium" EXACT misspelling [] synonym: "uncultured Acidobacterium group bacterium" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:171960 name: Vitis sp. cv. 'Norton' namespace: ncbi_taxonomy is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:172680 name: Chlamydotis undulata namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:172790 name: Solanum phureja namespace: ncbi_taxonomy synonym: "chaucha" EXACT common_name [] synonym: "phureja" EXACT common_name [] synonym: "Solanum phureja Juz. & Bukasov" EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:173 name: Leptospira interrogans namespace: ncbi_taxonomy synonym: "Leptospira icteroides" EXACT synonym [] synonym: "Spirochaeta biflexa" EXACT in_part [] synonym: "Spirochaeta icterogenes" EXACT synonym [] synonym: "Spirochaeta icterohaemorrhagiae" EXACT synonym [] synonym: "Spirochaeta interrogans" EXACT synonym [] synonym: "Spirochaeta nodosa" EXACT synonym [] xref: MeSH:D007921 xref: SNOMEDCT:116401006 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:174621 name: Wyeomyia smithii namespace: ncbi_taxonomy synonym: "pitcher-plant mosquito" EXACT common_name [] synonym: "Wyeomia smithii" EXACT misspelling [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:174633 name: Candidatus Kuenenia stuttgartiensis namespace: ncbi_taxonomy synonym: "Kuenenia stuttgartiensis" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1747 name: Propionibacterium acnes namespace: ncbi_taxonomy synonym: "Bacillus acnes" EXACT synonym [] synonym: "Corynebacterium acnes" EXACT synonym [] synonym: "Propionicibacterium acnes" EXACT equivalent_name [] xref: MeSH:D011425 xref: NCIt:C14378 xref: SNOMEDCT:39473003 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1752 name: Propionibacterium freudenreichii subsp. shermanii namespace: ncbi_taxonomy synonym: "Propionibacterium freudenreichii shermanii" EXACT synonym [] synonym: "Propionibacterium shermanii" EXACT synonym [] synonym: "Propionicibacterium freudenreichii subsp. shermanii" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:176299 name: Agrobacterium tumefaciens str. C58 namespace: ncbi_taxonomy is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1764 name: Mycobacterium avium namespace: ncbi_taxonomy synonym: "Bacillus tuberculosis gallinarum" EXACT synonym [] synonym: "Bacillus tuberculosis gallinarum" EXACT synonym [NCBITaxonRef:Sternberg_1892] synonym: "Mycobacterium avium Chester 1901 (Approved Lists 1980) emend. Thorel et al. 1990" EXACT synonym [] synonym: "Mycobacterium tuberculosis avium" EXACT synonym [NCBITaxonRef:Lehmann_and_Neumann_1896] synonym: "Mycobacterium tuberculosis avium" EXACT synonym [] synonym: "Mycobacterium tuberculosis typus gallinaceus" EXACT synonym [] synonym: "Mycobacterium tuberculosis typus gallinaceus" EXACT synonym [NCBITaxonRef:Lehmann_and_Neumann_1907] synonym: "Tuberculose des oiseaux" EXACT synonym [NCBITaxonRef:Strauss_and_Gamaleia_1891] synonym: "Tuberculose des oiseaux" EXACT synonym [] xref: MeSH:D009162 xref: NCIt:C86535 xref: SNOMEDCT:83723009 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1765 name: Mycobacterium bovis namespace: ncbi_taxonomy synonym: "Mycobacterium bovis Karlson and Lessel 1970" EXACT synonym [] synonym: "Mycobacterium tuberculosis typus bovinus" EXACT synonym [] synonym: "Mycobacterium tuberculosis typus bovinus" EXACT synonym [NCBITaxonRef:Lehmann_and_Neumann_1907] synonym: "Mycobacterium tuberculosis var. bovis" EXACT synonym [NCBITaxonRef:Bergey_et_al._1934] synonym: "Mycobacterium tuberculosis var. bovis" EXACT synonym [] xref: MeSH:D009163 xref: NCIt:C85545 xref: SNOMEDCT:27142009 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1769 name: Mycobacterium leprae namespace: ncbi_taxonomy synonym: "Bacillus leprae" EXACT synonym [] synonym: "Mycoplasma leprae" EXACT misnomer [] xref: MeSH:D009166 xref: NCIt:C86544 xref: SNOMEDCT:58242002 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1770 name: Mycobacterium avium subsp. paratuberculosis namespace: ncbi_taxonomy synonym: "Bacillus paratuberculosis" EXACT synonym [] synonym: "Bacterium paratuberculosis" EXACT synonym [] synonym: "Darmtuberculose" EXACT synonym [] synonym: "Mycobacterium avium paratuberculosis" EXACT equivalent_name [] synonym: "Mycobacterium enteritidis" EXACT synonym [] synonym: "Mycobacterium johnei" EXACT synonym [] synonym: "Mycobacterium paratuberculosis" EXACT synonym [] xref: MeSH:D016927 xref: SNOMEDCT:74028009 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1772 name: Mycobacterium smegmatis namespace: ncbi_taxonomy synonym: "Bacillus smegmatis" EXACT synonym [] synonym: "Bacterium smegmatis" EXACT synonym [] synonym: "Mycobacterium paratuberculosis smegmatis" EXACT synonym [] xref: MeSH:D020102 xref: NCIt:C86590 xref: SNOMEDCT:53114006 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1773 name: Mycobacterium tuberculosis namespace: ncbi_taxonomy synonym: "Bacillus tuberculosis" EXACT synonym [] synonym: "Bacterium tuberculosis" EXACT synonym [] synonym: "Mycobacterium tuberculosis typus humanus" EXACT synonym [] synonym: "Mycobacterium tuberculosis var. hominis" EXACT synonym [] xref: MeSH:D009169 xref: NCIt:C76370 xref: SNOMEDCT:113861009 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:177416 name: Francisella tularensis subsp. tularensis SCHU S4 namespace: ncbi_taxonomy synonym: "Francisella tularensis Biovar A str. Schu 4" EXACT synonym [] synonym: "Francisella tularensis Biovar A str. SCHU S4" EXACT synonym [] synonym: "Francisella tularensis subsp. tularensis Schu 4" EXACT synonym [] synonym: "Francisella tularensis subsp. tularensis str. SCHU S4" EXACT equivalent_name [] synonym: "Francisella tularensis subsp. tularensis strain SCHU S4" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:178876 name: Cryptococcus neoformans var. grubii namespace: ncbi_taxonomy synonym: "Cryptococcus neoformans A" EXACT synonym [] synonym: "Cryptococcus neoformans serotype A" EXACT synonym [] synonym: "Filobasidiella neoformans serotype A" EXACT genbank_synonym [] synonym: "Filobasidiella neoformans var. grubii" EXACT misnomer [] xref: SNOMEDCT:415904003 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:varietas property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:18101 name: Gerbera hybrid cultivar namespace: ncbi_taxonomy synonym: "Gerbera hybrida" EXACT genbank_synonym [] synonym: "Gerbera hybrida cultivar" EXACT misspelling [] synonym: "Gerbera x sp." EXACT misspelling [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:181288 name: Lotus uliginosus namespace: ncbi_taxonomy synonym: "big trefoil" EXACT common_name [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:182096 name: Aspergillus chevalieri namespace: ncbi_taxonomy comment: Entry Merged. Taxid 41411 was merged into taxid 182096 on January 25, 2013. synonym: "Eurotium chevalieri" EXACT [] is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:183190 name: Xylella fastidiosa Temecula1 namespace: ncbi_taxonomy synonym: "Pierce" EXACT synonym [NCBITaxonRef:s_disease_strain'] synonym: "Xylella fastidiosa (strain Temecula1 / ATCC 700964)" EXACT synonym [] synonym: "Xylella fastidiosa str. Temecula1" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1836 name: Saccharopolyspora erythraea namespace: ncbi_taxonomy synonym: "Actinomyces erythreus" EXACT synonym [NCBITaxonRef:sic_Waksman_1923] synonym: "Actinomyces erythreus" EXACT synonym [] synonym: "Saccharopolyspora erythraea (Waksman 1923) Labeda 1987" EXACT synonym [] synonym: "Streptomyces erythraeus" EXACT synonym [] synonym: "Streptomyces erythraeus (Waksman 1923) Waksman and Henrici 1948 (Approved Lists 1980)" EXACT synonym [] synonym: "Streptomyces erythreus" EXACT synonym [NCBITaxonRef:sic_Waksman_1923\,_Waksman_and_Henrici_1948] xref: SNOMEDCT:438470009 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:183674 name: Miscanthus x giganteus namespace: ncbi_taxonomy synonym: "Miscanthus giganteus" EXACT synonym [] synonym: "Miscanthus sinensis x Miscanthus sacchariflorus" EXACT synonym [] synonym: "Miscanthus x gigantheus J.M.Greef & Deuter 1993, nom. inval." EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:183925 name: Methanobacteria namespace: ncbi_taxonomy synonym: "Archaeobacteria" EXACT synonym [] is_a: NCBITaxon:2157 ! Archaea property_value: has_rank NCBITaxon:class property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:185431 name: Trypanosoma brucei TREU927 namespace: ncbi_taxonomy synonym: "Trypanosoma brucei strain TREU927" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:186497 name: Pyrococcus furiosus DSM 3638 namespace: ncbi_taxonomy synonym: "Pyrococcus furiosus DSM3638" EXACT misspelling [] synonym: "Pyrococcus furiosus str. DSM 3638" EXACT equivalent_name [] synonym: "Pyrococcus furiosus strain DSM 3638" EXACT equivalent_name [] is_a: NCBITaxon:2157 ! Archaea property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:186538 name: Zaire ebolavirus namespace: ncbi_taxonomy synonym: "Zaire Ebola virus" EXACT synonym [] synonym: "ZEBOV" EXACT genbank_acronym [] is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:186539 name: Reston ebolavirus namespace: ncbi_taxonomy synonym: "Ebola virus Reston" EXACT synonym [] synonym: "REBOV" EXACT genbank_acronym [] synonym: "Reston Ebola virus" EXACT synonym [] xref: SNOMEDCT:422448009 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:186540 name: Sudan ebolavirus namespace: ncbi_taxonomy synonym: "Ebolavirus Sudan" EXACT synonym [] synonym: "SEBOV" EXACT genbank_acronym [] synonym: "Sudan Ebola virus" EXACT synonym [] xref: SNOMEDCT:424116003 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:186801 name: Clostridia namespace: ncbi_taxonomy is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:class property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:186842 name: Mus musculus x Mus spretus namespace: ncbi_taxonomy is_a: NCBITaxon:10088 ! Mus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:187623 name: Cryptopygus antarcticus namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:188704 name: Enteromyxum leei namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1890 name: Streptomyces antibioticus namespace: ncbi_taxonomy synonym: "Actinomyces antibioticus" EXACT synonym [NCBITaxonRef:Waksman_and_Woodruff_1941] synonym: "Actinomyces antibioticus" EXACT synonym [] synonym: "Streptomyces antibioticus (Waksman and Woodruff 1941) Waksman and Henrici 1948" EXACT synonym [] xref: MeSH:D013303 xref: SNOMEDCT:437863000 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:189291 name: Meloidogyne graminicola def: "Meloidogyne graminicola is the most common root-knot nematodes species infecting rice." [] is_a: EO:0007337 ! Nematoda property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:1894 name: Streptomyces aureofaciens namespace: ncbi_taxonomy synonym: "Kitasatospora aureofaciens" EXACT equivalent_name [] synonym: "Streptomyces aureifaciens" EXACT equivalent_name [] synonym: "Streptomyces aureofaciens Duggar 1948 emend. Groth et al. 2003" EXACT synonym [] xref: MeSH:D013304 xref: SNOMEDCT:438918004 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:189518 name: Leptospira interrogans serovar Lai str. 56601 namespace: ncbi_taxonomy is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1896 name: Streptomyces bikiniensis namespace: ncbi_taxonomy synonym: "Actinomyces bikiniensis" EXACT synonym [NCBITaxonRef:Johnstone_and_Waksman_1947_Krasil'nikov_1949] synonym: "Actinomyces bikiniensis" EXACT synonym [] synonym: "Streptomyces bikiniensis Johnstone and Waksman 1947" EXACT synonym [] xref: SNOMEDCT:438930005 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1901 name: Streptomyces clavuligerus namespace: ncbi_taxonomy synonym: "Streptomyces clavuligerus Higgens and Kastner 1971" EXACT synonym [] xref: SNOMEDCT:438736009 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1902 name: Streptomyces coelicolor namespace: ncbi_taxonomy synonym: "Actinomyces coelicolor" EXACT synonym [] synonym: "Cladothrix coelicolor" EXACT synonym [] synonym: "Nocardia coelicolor" EXACT synonym [] synonym: "Streptococcus coelicolor" EXACT misnomer [] synonym: "Streptomyces calicolor" EXACT misspelling [] synonym: "Streptomyces coelicolor subspecies coelicolor" EXACT synonym [] synonym: "Streptothrix coelicolor" EXACT synonym [] xref: MeSH:D048372 xref: SNOMEDCT:114002007 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:190486 name: Xanthomonas axonopodis pv. citri str. 306 namespace: ncbi_taxonomy is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1905 name: Streptomyces exfoliatus namespace: ncbi_taxonomy synonym: "Actinomyces exfoliatus" EXACT synonym [] synonym: "Actinomyces exfoliatus" EXACT synonym [NCBITaxonRef:Waksman_and_Curtis_1916] synonym: "Streptomyces exfoliatus (Waksman and Curtis 1916) Waksman and Henrici 1948" EXACT synonym [] synonym: "Streptomyces hydrogenans" EXACT synonym [] xref: SNOMEDCT:439552001 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1906 name: Streptomyces fradiae namespace: ncbi_taxonomy synonym: "Actinomyces fradii" EXACT synonym [] synonym: "Actinomyces fradii" EXACT synonym [NCBITaxonRef:sic_Waksman_and_Curtis_1916] synonym: "Streptomyces fradiae (Waksman and Curtis 1916)" EXACT misspelling [] synonym: "Streptomyces fradiae (Waksman and Curtis 1916) Waksman and Henrici 1948 (Approved Lists 1980) emend." EXACT synonym [] synonym: "Streptomyces fradiae subsp. fradiae" EXACT synonym [NCBITaxonRef:Waksman_and_Curtis_in_Pridham_et_al._1965] synonym: "Streptomyces fradiae subsp. fradiae" EXACT synonym [] synonym: "Streptomyces fradii" EXACT synonym [NCBITaxonRef:sic_Waksman_and_Henrici_1948] synonym: "Streptomyces fradii" EXACT synonym [] synonym: "Streptomyces roseiflavus" EXACT equivalent_name [] synonym: "Streptomyces roseoflavus" EXACT synonym [] synonym: "Streptomyces roseoflavus Arai 1951 (Approved Lists 1980)" EXACT synonym [] xref: SNOMEDCT:438285000 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:190650 name: Caulobacter crescentus CB15 namespace: ncbi_taxonomy synonym: "Caulobacter crescentus CB 15" EXACT misspelling [] synonym: "Caulobacter crescentus str. CB15" EXACT equivalent_name [] synonym: "Caulobacter crescentus strain CB15" EXACT equivalent_name [] synonym: "Caulobacter vibrioides ATCC 19089" EXACT synonym [] synonym: "Caulobacter vibrioides CB15" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:190802 name: Cleome gynandra namespace: ncbi_taxonomy synonym: "acaya" EXACT common_name [] synonym: "African spider-flower" EXACT common_name [] synonym: "bastard-mustard" EXACT common_name [] synonym: "cat's-whiskers" EXACT common_name [] synonym: "Cleome gynandra L." EXACT synonym [] synonym: "Gynandropsis gynandra" EXACT synonym [] synonym: "Gynandropsis gynandra (L.) Briq." EXACT synonym [] synonym: "mouzambi" EXACT common_name [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1911 name: Streptomyces griseus namespace: ncbi_taxonomy synonym: "Actinomyces griseus" EXACT synonym [] synonym: "Actinomyces setonii" EXACT synonym [] synonym: "Streptomyces cavourensis subsp. washingtonensis" EXACT synonym [] synonym: "Streptomyces setonii" EXACT synonym [] synonym: "Streptomyces sp. WXC19-1" EXACT equivalent_name [] xref: MeSH:D013305 xref: NCIt:C86813 xref: SNOMEDCT:114000004 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:191292 name: Rhodococcus aetherivorans namespace: ncbi_taxonomy synonym: "Rhodococcus aetherovorans" EXACT misspelling [] xref: SNOMEDCT:437787005 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1916 name: Streptomyces lividans namespace: ncbi_taxonomy synonym: "Actinomyces lividans" EXACT synonym [] synonym: "Actinomyces lividans" EXACT synonym [NCBITaxonRef:Krasil'nikov_et_al.] synonym: "Streptomyces lividans" EXACT synonym [NCBITaxonRef:Krasil'nikov_et_al._Pridham] xref: MeSH:D048170 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1919 name: Streptomyces microflavus namespace: ncbi_taxonomy synonym: "Actinomyces cretaceus" EXACT synonym [] synonym: "Actinomyces cretaceus" EXACT synonym [NCBITaxonRef:Kruger_1905_Krasil'nikov_1941] synonym: "Actinomyces lipmanii" EXACT synonym [NCBITaxonRef:Waksman_and_Curtis_1916] synonym: "Actinomyces lipmanii" EXACT synonym [] synonym: "Actinomyces microflavus" EXACT synonym [NCBITaxonRef:Krainsky_1914] synonym: "Actinomyces microflavus" EXACT synonym [] synonym: "Actinomyces willmorei" EXACT synonym [] synonym: "Actinomyces willmorei" EXACT synonym [NCBITaxonRef:Erikson_1935] synonym: "Micromonospora microflava" EXACT synonym [NCBITaxonRef:Krainsky_1914_Duche_1934] synonym: "Micromonospora microflava" EXACT synonym [] synonym: "Oospora cretacea" EXACT synonym [] synonym: "Oospora cretacea" EXACT synonym [NCBITaxonRef:Kruger_1905] synonym: "Streptomyces cretaceus" EXACT synonym [] synonym: "Streptomyces cretaceus" EXACT synonym [NCBITaxonRef:Kruger_1905_Waksman_1950] synonym: "Streptomyces griseus subsp. alpha" EXACT synonym [] synonym: "Streptomyces griseus subsp. alpha (Ciferri 1927) Pridham 1970 (Approved Lists 1980)" EXACT synonym [] synonym: "Streptomyces griseus subsp. cretosus" EXACT synonym [] synonym: "Streptomyces griseus subsp. cretosus Pridham 1970 (Approved Lists 1980)" EXACT synonym [] synonym: "Streptomyces lipmanii" EXACT synonym [] synonym: "Streptomyces lipmanii (Waksman and Curtis 1916) Waksman and Henrici 1948" EXACT synonym [] synonym: "Streptomyces microflavus (Krainsky 1914) Waksman and Henrici 1948 (Approved Lists 1980) emend. Lanoo" EXACT synonym [] synonym: "Streptomyces willmorei" EXACT synonym [] synonym: "Streptomyces willmorei (Erikson 1935) Waksman and Henrici 1948 (Approved Lists 1980)" EXACT synonym [] xref: SNOMEDCT:438380007 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:192222 name: Campylobacter jejuni subsp. jejuni NCTC 11168 namespace: ncbi_taxonomy synonym: "Campylobacter jejuni subsp. jejuni str. NCTC 11168" EXACT equivalent_name [] synonym: "Campylobacter jejuni subsp. jejuni strain NCTC 11168" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:192399 name: Eucalyptus grandis x Eucalyptus urophylla namespace: ncbi_taxonomy is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:192452 name: Cocksfoot streak virus namespace: ncbi_taxonomy synonym: "CSV" EXACT genbank_acronym [] is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1927 name: Streptomyces rimosus namespace: ncbi_taxonomy synonym: "Streptomyces rimosus Sobin et al. 1953" EXACT synonym [] xref: MeSH:D064411 xref: SNOMEDCT:114004008 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1928 name: Streptomyces rochei namespace: ncbi_taxonomy synonym: "Actinomyces rochei" EXACT synonym [] xref: SNOMEDCT:437778001 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:192955 name: Salmonella enterica subsp. enterica serovar Kentucky namespace: ncbi_taxonomy synonym: "Salmonella kentucky" EXACT synonym [] xref: SNOMEDCT:8455004 is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1930 name: Streptomyces scabiei namespace: ncbi_taxonomy synonym: "Actinomyces scabies" EXACT synonym [] synonym: "Oospora scabies" EXACT synonym [] synonym: "Streptomyces scabies" EXACT synonym [] xref: SNOMEDCT:439180005 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:194 name: Campylobacter namespace: ncbi_taxonomy synonym: "Ampylobacter" EXACT misspelling [] xref: MeSH:D002167 xref: NCIt:C76211 xref: SNOMEDCT:35408001 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:195 name: Campylobacter coli namespace: ncbi_taxonomy synonym: "Campylobacter hyoilei" EXACT genbank_synonym [] synonym: "Vibrio coli" EXACT synonym [] xref: MeSH:D017000 xref: NCIt:C86230 xref: SNOMEDCT:40614002 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:195102 name: Clostridium perfringens str. 13 namespace: ncbi_taxonomy synonym: "Clostridium perfringens 13" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:195635 name: Pleuronichthys verticalis namespace: ncbi_taxonomy synonym: "hornyhead turbot" EXACT common_name [] synonym: "Pleuronichthys verticalis Jordan & Gilbert, 1880" EXACT synonym [] xref: SNOMEDCT:9192002 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:1961 name: Streptomyces virginiae namespace: ncbi_taxonomy synonym: "Streptomyces virginiae Grundy et al. 1952" EXACT synonym [] synonym: "Streptomyces virginiensis" EXACT equivalent_name [] xref: SNOMEDCT:438700006 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:196620 name: Staphylococcus aureus subsp. aureus MW2 namespace: ncbi_taxonomy synonym: "Staphylococcus aureus (strain MW2)" EXACT synonym [] synonym: "Staphylococcus aureus subsp. aureus str. MW2" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:196627 name: Corynebacterium glutamicum ATCC 13032 namespace: ncbi_taxonomy synonym: "Corynebacterium glutamicum str. ATCC 13032" EXACT equivalent_name [] synonym: "Corynebacterium glutamicum strain ATCC 13032" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:197 name: Campylobacter jejuni namespace: ncbi_taxonomy synonym: "Ampylobacter jejuni" EXACT misspelling [] synonym: "Campylobacter fetus subsp. jejuni" EXACT synonym [] synonym: "Vibrio hepaticus" EXACT synonym [] synonym: "Vibrio jejuni" EXACT synonym [] xref: MeSH:D016123 xref: NCIt:C86235 xref: SNOMEDCT:66543000 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:197221 name: Thermosynechococcus elongatus BP-1 namespace: ncbi_taxonomy synonym: "Thermosynechococcus elongatus str. BP-1" EXACT equivalent_name [] synonym: "Thermosynechococcus elongatus strain BP-1" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:198094 name: Bacillus anthracis str. Ames namespace: ncbi_taxonomy synonym: "Bacillus anthracis (strain Ames)" EXACT equivalent_name [] synonym: "Bacillus anthracis Ames" EXACT equivalent_name [] synonym: "Bacillus anthracis strain Ames" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:198214 name: Shigella flexneri 2a str. 301 namespace: ncbi_taxonomy synonym: "Shigella flexneri serotype 2a str. 301" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:198431 name: uncultured prokaryote namespace: ncbi_taxonomy is_a: OBI:0100026 ! organism property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:198504 name: Spartina x townsendii namespace: ncbi_taxonomy is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:199200 name: Pseudomonas syringae pv. japonica def: "Pseudomonas syringae pv. japonica, which attacks barley, is one othe patovars of P. syringae." [] is_a: NCBITaxon:286 ! Pseudomonas property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:199310 name: Escherichia coli CFT073 namespace: ncbi_taxonomy synonym: "Escherichia coli str. CFT073" EXACT equivalent_name [] synonym: "Escherichia coli strain CFT073" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:2 name: Bacteria namespace: ncbi_taxonomy synonym: "bacteria" EXACT blast_name [] synonym: "eubacteria" EXACT common_name [] synonym: "Monera" EXACT in_part [] synonym: "not Bacteria Haeckel 1894" EXACT synonym [] synonym: "Procaryotae" EXACT in_part [] synonym: "Prokaryota" EXACT in_part [] synonym: "Prokaryotae" EXACT in_part [] synonym: "prokaryotes" EXACT in_part [] xref: MeSH:D001419 xref: NCIt:C14187 xref: SNOMEDCT:409822003 xref: SNOMEDCT:41146007 is_a: OBI:0100026 ! organism property_value: has_rank NCBITaxon:superkingdom property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: NCBITaxon:2001 name: Streptosporangium roseum namespace: ncbi_taxonomy synonym: "Angiococcus moliroseus" EXACT synonym [] synonym: "Angiococcus moliroseus" EXACT synonym [NCBITaxonRef:Peterson_1959] synonym: "Streptosporangium roseum Couch 1955" EXACT synonym [] xref: SNOMEDCT:441026001 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:200361 name: Aegilops tauschii subsp. strangulata def: "Aegilops tauschii subsp. strangulata is one of the two subspecies of Aegilops tauschii." [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:202457 name: Callicebus cupreus namespace: ncbi_taxonomy synonym: "Callithrix cuprea" EXACT synonym [] synonym: "coppery titi" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:202907 name: Collimonas namespace: ncbi_taxonomy synonym: "Collimonas de Boer et al. 2004" EXACT synonym [] xref: SNOMEDCT:432359005 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:203119 name: Clostridium thermocellum ATCC 27405 namespace: ncbi_taxonomy synonym: "Clostridium thermocellum DSM 1237" EXACT synonym [] synonym: "Clostridium thermocellum str. ATCC 27405" EXACT equivalent_name [] synonym: "Clostridium thermocellum strain ATCC 27405" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:203262 name: Epinephelus tauvina namespace: ncbi_taxonomy synonym: "Epinephelus tauvina (Forsskal, 1775)" EXACT synonym [] synonym: "greasy grouper" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:203404 name: Lactococcus lactis subsp. hordniae namespace: ncbi_taxonomy synonym: "Lactobacillus hordniae" EXACT synonym [NCBITaxonRef:Latorre-Guzman_et_al._1977] synonym: "Lactobacillus hordniae" EXACT synonym [] synonym: "Lactococcus lactis subsp. hordniae (ex Latorre-Guzman et al. 1977) Schleifer et al. 1986" EXACT synonym [] xref: SNOMEDCT:64724000 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:203907 name: Candidatus Blochmannia floridanus namespace: ncbi_taxonomy synonym: "'Candidatus Blochmannia floridanus'" EXACT synonym [] synonym: "Blochmannia floridanus" EXACT synonym [] synonym: "Candidatus Blochmannia floridanus" EXACT synonym [NCBITaxonRef:Sauer_et_al._2000] is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:203908 name: Melampsora larici-populina namespace: ncbi_taxonomy synonym: "Melampsora laricipopulina" EXACT synonym [] synonym: "Melampsora laricis-populina" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:204038 name: Dickeya dadantii namespace: ncbi_taxonomy is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:204773 name: Herminiimonas arsenicoxydans namespace: ncbi_taxonomy synonym: "Cenibacterium arsenoxidans" EXACT misspelling [] synonym: "Cenibacterium arsenoxydans" EXACT misspelling [] is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:205920 name: Ehrlichia chaffeensis str. Arkansas namespace: ncbi_taxonomy synonym: "Ehrlichia chaffeensis Arkansas" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:205922 name: Pseudomonas fluorescens Pf0-1 namespace: ncbi_taxonomy synonym: "Pseudomonas fluorescens PfO-1" EXACT misspelling [] synonym: "Pseudomonas fluorescens str. Pf0-1" EXACT equivalent_name [] synonym: "Pseudomonas fluorescens strain Pf0-1" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:207559 name: Desulfovibrio alaskensis G20 namespace: ncbi_taxonomy synonym: "Desulfovibrio alaskensis str. G20" EXACT equivalent_name [] synonym: "Desulfovibrio alaskensis strain G20" EXACT equivalent_name [] synonym: "Desulfovibrio desulfuricans G20" EXACT misspelling [] synonym: "Desulfovibrio desulfuricans str. G20" EXACT misspelling [] synonym: "Desulfovibrio desulfuricans subsp. desulfuricans str. G20" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:208963 name: Pseudomonas aeruginosa UCBPP-PA14 namespace: ncbi_taxonomy synonym: "Pseudomonas aeruginosa str. UCBPP-PA14" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:208964 name: Pseudomonas aeruginosa PAO1 namespace: ncbi_taxonomy synonym: "Pseudomonas aeruginosa PA01" EXACT misspelling [] synonym: "Pseudomonas aeruginosa str. PA01" EXACT misspelling [] synonym: "Pseudomonas aeruginosa str. PAO1" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:208973 name: Choristoneura fumiferana MNPV namespace: ncbi_taxonomy synonym: "budworm nuclear polyhedrosis virus" EXACT common_name [] synonym: "CfMNPV" EXACT acronym [] synonym: "Choristoneura fumiferana multicapsid nuclear polyhedrosis virus CfMNPV" EXACT synonym [] synonym: "Choristoneura fumiferana multiple nucleocapsid nuclear polyhedrosis virus CfMNPV" EXACT synonym [] synonym: "Choristoneura fumiferana multiple nucleopolyhedrovirus" EXACT synonym [] synonym: "Choristoneura fumiferana nuclear polyhedrosis virus" EXACT synonym [] synonym: "Choristoneura fumiferana nuclear polyhedrosis virus CfMNPV" EXACT misnomer [] synonym: "Choristoneura fumiferana nuclear polyhedrosis virus, CfMNPV" EXACT synonym [] synonym: "Choristoneura fumiferana nucleopolyhedrosis virus" EXACT synonym [] synonym: "Choristoneura fumiferana nucleopolyhedrovirus" EXACT synonym [] synonym: "multinucleocapsid nuclear polyhedrosis virus CfMNPV" EXACT synonym [] synonym: "spruce budworm nuclear polyhedrosis virus" EXACT common_name [] is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:209261 name: Salmonella enterica subsp. enterica serovar Typhi str. Ty2 namespace: ncbi_taxonomy synonym: "Salmonella enterica subsp. enterica serovar Typhi strain Ty2" EXACT equivalent_name [] synonym: "Salmonella enterica subsp. enterica serovar Typhi Ty2" EXACT misspelling [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:2096 name: Mycoplasma gallisepticum namespace: ncbi_taxonomy xref: MeSH:D045686 xref: SNOMEDCT:66386001 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:2097 name: Mycoplasma genitalium namespace: ncbi_taxonomy xref: MeSH:D045704 xref: SNOMEDCT:5056007 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:209841 name: Actinobacillus pleuropneumoniae serovar 7 namespace: ncbi_taxonomy synonym: "Actinobacillus pleuropneumoniae 7" EXACT synonym [] synonym: "Actinobacillus pleuropneumoniae serotype 7" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:2099 name: Mycoplasma hyopneumoniae namespace: ncbi_taxonomy synonym: "Mycoplasma suipneumoniae" EXACT synonym [] xref: MeSH:D045705 xref: SNOMEDCT:81326007 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:210 name: Helicobacter pylori namespace: ncbi_taxonomy synonym: "Campylobacter pylori" EXACT synonym [] synonym: "Campylobacter pylori subsp. pylori" EXACT synonym [] synonym: "Campylobacter pyloridis" EXACT synonym [] synonym: "Helicobacter nemestrinae" EXACT synonym [] xref: ICD10:B98 xref: MeSH:D016480 xref: NCIt:C14289 xref: SNOMEDCT:80774000 is_a: NCBITaxon:2 ! Bacteria property_value: gwas:trait "true" xsd:boolean property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:210007 name: Streptococcus mutans UA159 namespace: ncbi_taxonomy synonym: "Streptococcus mutans str. UA159" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:211586 name: Shewanella oneidensis MR-1 namespace: ncbi_taxonomy synonym: "Shewanella oneidensis ATCC 700550" EXACT synonym [] synonym: "Shewanella oneidensis str. MR-1" EXACT equivalent_name [] synonym: "Shewanella oneidensis strain MR-1" EXACT equivalent_name [] synonym: "Shewanella sp. MR-1" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:212035 name: Acanthamoeba polyphaga mimivirus namespace: ncbi_taxonomy synonym: "Acanthomoeba polyphaga mimivirus" EXACT misspelling [] synonym: "Mimi" EXACT misnomer [] is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:212042 name: Anaplasma phagocytophilum HZ namespace: ncbi_taxonomy synonym: "Anaplasma phagocytophila HZ" EXACT misspelling [] synonym: "Anaplasma phagocytophila str. HZ" EXACT misspelling [] synonym: "Anaplasma phagocytophilum str. HZ" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:214684 name: Cryptococcus neoformans var. neoformans JEC21 namespace: ncbi_taxonomy synonym: "Cryptococcus neoformans JEC21" EXACT equivalent_name [] synonym: "Cryptococcus neoformans var. neoformans serotype D JEC21" EXACT synonym [] synonym: "Cryptococcus neoformans var. neoformans strain JEC21" EXACT equivalent_name [] synonym: "Filobasidiella neoformans var. neoformans strain JEC21" EXACT genbank_synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:2157 name: Archaea namespace: ncbi_taxonomy synonym: "archaea" EXACT blast_name [] synonym: "Archaebacteria" EXACT synonym [] synonym: "Mendosicutes" EXACT synonym [] synonym: "Metabacteria" EXACT synonym [] synonym: "Monera" EXACT in_part [] synonym: "Procaryotae" EXACT in_part [] synonym: "Prokaryota" EXACT in_part [] synonym: "Prokaryotae" EXACT in_part [] synonym: "prokaryotes" EXACT in_part [] xref: MeSH:D001105 xref: NCIt:C61092 is_a: OBI:0100026 ! organism property_value: has_rank NCBITaxon:superkingdom property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: NCBITaxon:2160 name: Methanobacterium namespace: ncbi_taxonomy xref: MeSH:D017014 xref: SNOMEDCT:432535001 is_a: NCBITaxon:2157 ! Archaea property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:216193 name: Sylvia communis namespace: ncbi_taxonomy synonym: "greater whitethroat" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:216389 name: Dehalococcoides sp. BAV1 namespace: ncbi_taxonomy is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:216597 name: Salmonella enterica subsp. enterica serovar Typhimurium str. SL1344 namespace: ncbi_taxonomy synonym: "Salmonella enterica subsp. enterica serovar Typhimurium SL1344" EXACT equivalent_name [] synonym: "Salmonella enterica subsp. enterica serovar Typhimurium strain SL1344" EXACT equivalent_name [] synonym: "Salmonella typhimurium SL1344" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:216816 name: Bifidobacterium longum namespace: ncbi_taxonomy xref: NCIt:C86199 xref: SNOMEDCT:19464000 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:216895 name: Vibrio vulnificus CMCP6 namespace: ncbi_taxonomy synonym: "Vibrio vulnificus str. CMCP6" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:2173 name: Methanobrevibacter smithii namespace: ncbi_taxonomy xref: SNOMEDCT:432593005 is_a: NCBITaxon:2157 ! Archaea property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:218196 name: Moniezia benedeni namespace: ncbi_taxonomy xref: SNOMEDCT:42236003 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:2184 name: Methanococcus namespace: ncbi_taxonomy xref: MeSH:D017017 xref: SNOMEDCT:432472005 is_a: NCBITaxon:2157 ! Archaea property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:220341 name: Salmonella enterica subsp. enterica serovar Typhi str. CT18 namespace: ncbi_taxonomy synonym: "Salmonella enterica subsp. enterica serovar Typhi CT18" EXACT equivalent_name [] synonym: "Salmonella enterica subsp. enterica serovar Typhi strain CT18" EXACT equivalent_name [] synonym: "Salmonella typhi CT18" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:220664 name: Pseudomonas fluorescens Pf-5 namespace: ncbi_taxonomy synonym: "Pseudomonas fluorescens str. Pf-5" EXACT equivalent_name [] synonym: "Pseudomonas fluorescens strain Pf-5" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:220668 name: Lactobacillus plantarum WCFS1 namespace: ncbi_taxonomy synonym: "Lactobacillus plantarum str. WCFS1" EXACT equivalent_name [] synonym: "Lactobacillus plantarum strain WCFS1" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:2208 name: Methanosarcina barkeri namespace: ncbi_taxonomy synonym: "Methanobacterium barkeri" EXACT misnomer [] synonym: "Methanosarcina barkerii" EXACT synonym [] synonym: "Sarcina barkeri" EXACT synonym [] xref: MeSH:D017021 xref: SNOMEDCT:433384000 is_a: NCBITaxon:2157 ! Archaea property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:2209 name: Methanosarcina mazei namespace: ncbi_taxonomy synonym: "Methanococcus frisius" EXACT synonym [] synonym: "Methanococcus mazei" EXACT synonym [] synonym: "Methanosarcina frisia" EXACT synonym [] synonym: "Methanosarcina frisius" EXACT synonym [] synonym: "Methanosarcina mazeii" EXACT synonym [] xref: SNOMEDCT:433386003 is_a: NCBITaxon:2157 ! Archaea property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:221654 name: Palaemonetes pugio namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:223283 name: Pseudomonas syringae pv. tomato str. DC3000 namespace: ncbi_taxonomy synonym: "Pseudomonas syringae DC3000" EXACT equivalent_name [] synonym: "Pseudomonas syringae pv. tomato DC3000" EXACT equivalent_name [] is_a: NCBITaxon:323 ! Pseudomonas syringae pv. tomato property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:223430 name: Aquilegia formosa namespace: ncbi_taxonomy synonym: "Aquilegia formosa Fisch. ex DC." EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:223926 name: Vibrio parahaemolyticus RIMD 2210633 namespace: ncbi_taxonomy synonym: "Vibrio parahaemolyticus str. RIMD 2210633" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:2242 name: Halobacterium salinarum namespace: ncbi_taxonomy synonym: "Bacillus halobius ruber" EXACT synonym [] synonym: "Bacterium halobium" EXACT synonym [] synonym: "Flavobacterium (subgen. Halobacterium) halobium" EXACT synonym [] synonym: "Flavobacterium (subgen. Halobacterium) salinarium" EXACT synonym [] synonym: "Halobacter salinaria" EXACT synonym [] synonym: "Halobacterium cutirubrum" EXACT synonym [] synonym: "Halobacterium halobium" EXACT synonym [] synonym: "Halobacterium salinarium" EXACT synonym [] synonym: "Pseudomonas salinaria" EXACT synonym [] synonym: "Serratia cutirubrum" EXACT synonym [] synonym: "Serratia salinaria" EXACT synonym [] xref: MeSH:D019617 xref: SNOMEDCT:419489007 is_a: NCBITaxon:2157 ! Archaea property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:224308 name: Bacillus subtilis subsp. subtilis str. 168 namespace: ncbi_taxonomy synonym: "Bacillus subtilis subsp. subtilis 168" EXACT synonym [] synonym: "Bacillus subtilis subsp. subtilis str. BGSC 1A700" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:2246 name: Haloferax volcanii namespace: ncbi_taxonomy synonym: "Halobacterium volcanii" EXACT synonym [] xref: MeSH:D019622 xref: SNOMEDCT:433847007 is_a: NCBITaxon:2157 ! Archaea property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:224729 name: Salmonella enterica subsp. enterica serovar Java namespace: ncbi_taxonomy synonym: "Salmonella java" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:224911 name: Bradyrhizobium japonicum USDA 110 namespace: ncbi_taxonomy synonym: "Bradyrhizobium japonicum str. USDA 110" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:224914 name: Brucella melitensis bv. 1 str. 16M namespace: ncbi_taxonomy synonym: "Brucella melitensis 16M" EXACT misspelling [] synonym: "Brucella melitensis ATCC 23456" EXACT synonym [] synonym: "Brucella melitensis str. 16M" EXACT misspelling [] synonym: "Brucella melitensis str. ATCC 23456" EXACT misspelling [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:2261 name: Pyrococcus furiosus namespace: ncbi_taxonomy xref: MeSH:D020027 xref: SNOMEDCT:440803003 is_a: NCBITaxon:2157 ! Archaea property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:226125 name: Saccharomyces paradoxus NRRL Y-17217 namespace: ncbi_taxonomy is_a: NCBITaxon:4890 ! Ascomycota property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:226126 name: Saccharomyces mikatae IFO 1815 namespace: ncbi_taxonomy is_a: NCBITaxon:4890 ! Ascomycota property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:226127 name: Saccharomyces bayanus MCYC 623 namespace: ncbi_taxonomy is_a: NCBITaxon:4890 ! Ascomycota property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:226185 name: Enterococcus faecalis V583 namespace: ncbi_taxonomy synonym: "Enterococcus faecalis str. V583" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:226186 name: Bacteroides thetaiotaomicron VPI-5482 namespace: ncbi_taxonomy synonym: "Bacteroides thetaiotaomicron str. VPI-5482" EXACT equivalent_name [] synonym: "Bacteroides thetaiotaomicron strain VPI-5482" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:226302 name: Lachancea kluyveri NRRL Y-12651 namespace: ncbi_taxonomy synonym: "Saccharomyces kluyveri NRRL Y-12651" EXACT synonym [] is_a: NCBITaxon:4890 ! Ascomycota property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:226900 name: Bacillus cereus ATCC 14579 namespace: ncbi_taxonomy synonym: "Bacillus cereus (strain ATCC 14579 / DSM 31)" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:2271 name: Thermoproteus tenax namespace: ncbi_taxonomy xref: SNOMEDCT:441172004 is_a: NCBITaxon:2157 ! Archaea property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:227859 name: SARS coronavirus namespace: ncbi_taxonomy synonym: "HCoV-SARS" EXACT acronym [] synonym: "Human coronavirus (strain SARS)" EXACT synonym [] synonym: "SARS virus" EXACT synonym [] synonym: "Severe acute respiratory syndrome coronavirus" EXACT synonym [] xref: MeSH:D045473 xref: NCIt:C112432 xref: SNOMEDCT:415360003 is_a: NCBITaxon:10239 ! Virus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:227984 name: SARS coronavirus Tor2 namespace: ncbi_taxonomy xref: SNOMEDCT:415461003 is_a: NCBITaxon:10239 ! Virus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:228399 name: Actinobacillus pleuropneumoniae serovar 1 str. 4074 namespace: ncbi_taxonomy synonym: "Actinobacillus pleuropneumoniae 4074" EXACT synonym [] synonym: "Actinobacillus pleuropneumoniae serovar 1 strain 4074" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:228410 name: Nitrosomonas europaea ATCC 19718 namespace: ncbi_taxonomy synonym: "Nitrosomonas europaea str. ATCC 19718" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:228457 name: Laternula elliptica namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:2285 name: Sulfolobus acidocaldarius namespace: ncbi_taxonomy xref: MeSH:D016945 xref: SNOMEDCT:441235002 is_a: NCBITaxon:2157 ! Archaea property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:228578 name: Youcai mosaic virus namespace: ncbi_taxonomy is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:2287 name: Sulfolobus solfataricus namespace: ncbi_taxonomy synonym: "Sulfolobus fataricus" EXACT misspelling [] xref: MeSH:D048229 xref: SNOMEDCT:440978009 is_a: NCBITaxon:2157 ! Archaea property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:229990 name: Locusta migratoria manilensis namespace: ncbi_taxonomy synonym: "Locusta migratoria manilensis (Meyen, 1835)" EXACT synonym [] synonym: "Oriental migratory locust" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:230603 name: Saccharomyces uvarum namespace: ncbi_taxonomy synonym: "Saccharomyces bayanus var. uvarum" EXACT synonym [] synonym: "Saccharomyces bayanus var. uvarum (Beij.) G.I. Naumov" EXACT synonym [] xref: SNOMEDCT:243434008 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:231010 name: Arthroderma racemosum namespace: ncbi_taxonomy synonym: "Microsporum racemosum" EXACT synonym [] xref: SNOMEDCT:18459005 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:231049 name: Lactobacillus rossiae namespace: ncbi_taxonomy synonym: "Lactobacillus rossiae corrig. Corsetti et al. 2005" EXACT synonym [] synonym: "Lactobacillus rossii" EXACT synonym [] xref: SNOMEDCT:432194007 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:23211 name: Pyrus communis namespace: ncbi_taxonomy synonym: "pear" EXACT common_name [] synonym: "Pyrus balansae" EXACT synonym [] xref: NCIt:C72039 xref: SNOMEDCT:25352004 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:233412 name: Haemophilus ducreyi 35000HP namespace: ncbi_taxonomy synonym: "Haemophilus ducreyi str. 35000HP" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:2336 name: Thermotoga maritima namespace: ncbi_taxonomy xref: MeSH:D020124 xref: SNOMEDCT:439660008 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:2337 name: Thermotoga neapolitana namespace: ncbi_taxonomy xref: MeSH:D046949 xref: SNOMEDCT:438636001 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:233779 name: Spea bombifrons namespace: ncbi_taxonomy synonym: "plains spadefoot" EXACT common_name [] synonym: "plains spadefoot toad" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:235 name: Brucella abortus namespace: ncbi_taxonomy synonym: "Bacterium abortus" EXACT synonym [] synonym: "Brucella melitensis biovar Abortus" EXACT genbank_synonym [] synonym: "Brucella melitensis bv. Abortus" EXACT equivalent_name [] xref: ICD9:023.1 xref: MeSH:D002003 xref: NCIt:C86216 xref: SNOMEDCT:24224000 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:235443 name: Cryptococcus neoformans var. grubii H99 namespace: ncbi_taxonomy synonym: "Cryptococcus neoformans H99" EXACT equivalent_name [] synonym: "Cryptococcus neoformans var. grubii serotype A H99" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:2361 name: Calyptogena magnifica symbiont namespace: ncbi_taxonomy is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:2371 name: Xylella fastidiosa namespace: ncbi_taxonomy synonym: "Xylella almond" EXACT misspelling [] synonym: "Xylella oleander" EXACT misspelling [] xref: SNOMEDCT:440934000 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:237574 name: Citrus sunki namespace: ncbi_taxonomy is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:238245 name: Stenocarpella maydis namespace: ncbi_taxonomy synonym: "Diplodia maydis" EXACT synonym [] xref: SNOMEDCT:57336001 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:238854 name: Synechococcus phage S-PM2 namespace: ncbi_taxonomy synonym: "Bacteriophage S-PM2" EXACT synonym [] synonym: "Cyanophage phage S-PM2" EXACT synonym [] synonym: "Cyanophage S-PM2" EXACT synonym [] is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:239770 name: Pyrus hybrid cultivar namespace: ncbi_taxonomy is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:240495 name: Pseudonocardia dioxanivorans namespace: ncbi_taxonomy is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:242124 name: Populus yunnanensis namespace: ncbi_taxonomy synonym: "Populus yunnanensis Dode" EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:242507 name: Magnaporthe oryzae 70-15 namespace: ncbi_taxonomy synonym: "Magnaporthe grisea 70-15" EXACT equivalent_name [] is_a: NCBITaxon:4890 ! Ascomycota property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:242619 name: Porphyromonas gingivalis W83 namespace: ncbi_taxonomy synonym: "Porphyromonas gingivalis str. W83" EXACT equivalent_name [] synonym: "Porphyromonas gingivalis strain W83" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:243159 name: Acidithiobacillus ferrooxidans ATCC 23270 namespace: ncbi_taxonomy synonym: "Acidithiobacillus ferrooxidans str. ATCC 23270" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:243164 name: Dehalococcoides ethenogenes 195 namespace: ncbi_taxonomy synonym: "Dehalococcoides ethenogenes str. 195" EXACT equivalent_name [] synonym: "Dehalococcoides ethenogenes strain 195" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:243230 name: Deinococcus radiodurans R1 namespace: ncbi_taxonomy synonym: "Deinococcus radiodurans str. R1" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:243231 name: Geobacter sulfurreducens PCA namespace: ncbi_taxonomy synonym: "Geobacter sulfurreducens str. PCA" EXACT equivalent_name [] synonym: "Geobacter sulfurreducens strain PCA" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:243265 name: Photorhabdus luminescens subsp. laumondii TTO1 namespace: ncbi_taxonomy synonym: "Photorhabdus luminescens subsp. laumondii str. TTO1" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:246196 name: Mycobacterium smegmatis str. MC2 155 namespace: ncbi_taxonomy synonym: "Mycobacterium smegmatis 'MC2 155'" EXACT equivalent_name [] synonym: "Mycobacterium smegmatis MC2" EXACT misspelling [] synonym: "Mycobacterium smegmatis MC2 155" EXACT equivalent_name [] synonym: "Mycobacterium smegmatis str. MC2" EXACT misspelling [] synonym: "Mycobacterium smegmatis strain MC2 155" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:246200 name: Ruegeria pomeroyi DSS-3 namespace: ncbi_taxonomy synonym: "Ruegeria pomeroyi str. DSS-3" EXACT equivalent_name [] synonym: "Ruegeria pomeroyi strain DSS-3" EXACT equivalent_name [] synonym: "Silicibacter pomeroyi DSS-3" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:252598 name: Saccharomyces boulardii namespace: ncbi_taxonomy xref: SNOMEDCT:700441006 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:257758 name: Streptococcus pseudopneumoniae namespace: ncbi_taxonomy xref: SNOMEDCT:420470004 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:258594 name: Rhodopseudomonas palustris CGA009 namespace: ncbi_taxonomy synonym: "Rhodopseudomonas palustris str. CGA009" EXACT equivalent_name [] synonym: "Rhodopseudomonas palustris strain CGA009" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:259536 name: Psychrobacter arcticus 273-4 namespace: ncbi_taxonomy synonym: "Psychrobacter arcticum 273-4" EXACT misspelling [] synonym: "Psychrobacter arcticus str. 273-4" EXACT equivalent_name [] synonym: "Psychrobacter arcticus strain 273-4" EXACT equivalent_name [] synonym: "Psychrobacter sp. 273-4" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:260799 name: Bacillus anthracis str. Sterne namespace: ncbi_taxonomy synonym: "Bacillus anthracis (strain Sterne)" EXACT equivalent_name [] synonym: "Bacillus anthracis Sterne" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:262543 name: Exiguobacterium sibiricum 255-15 namespace: ncbi_taxonomy synonym: "Exiguobacterium sibiricum str. 255-15" EXACT equivalent_name [] synonym: "Exiguobacterium sibiricum strain 255-15" EXACT equivalent_name [] synonym: "Exiguobacterium sp. 255-15" EXACT equivalent_name [] synonym: "Exiguobacterium strain 255-15" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:262728 name: Haemophilus influenzae R2866 namespace: ncbi_taxonomy synonym: "Haemophilus influenzae str. R2866" EXACT equivalent_name [] synonym: "Haemophilus influenzae strain R2866" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:263 name: Francisella tularensis namespace: ncbi_taxonomy synonym: "Bacterium tularense" EXACT synonym [] synonym: "Brucella tularensis" EXACT synonym [] synonym: "Francisella tularense" EXACT synonym [] synonym: "Pasteurella tularensis" EXACT synonym [] xref: MeSH:D005604 xref: NCIt:C86397 xref: SNOMEDCT:51526001 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:264462 name: Bdellovibrio bacteriovorus HD100 namespace: ncbi_taxonomy synonym: "Bdellovibrio bacteriovorus DSM 50701" EXACT synonym [] synonym: "Bdellovibrio bacteriovorus str. HD100" EXACT equivalent_name [] synonym: "Bdellovibrio bacteriovorus strain HD100" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:264653 name: Synechococcus phage S-RSM2 namespace: ncbi_taxonomy synonym: "Bacteriophage S-RSM2" EXACT synonym [] is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:264956 name: Lotus filicaulis namespace: ncbi_taxonomy synonym: "Lotus filicaulis Dur." EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:265606 name: Rhodopirellula baltica namespace: ncbi_taxonomy xref: SNOMEDCT:440806006 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:265669 name: Listeria monocytogenes serotype 4b str. F2365 namespace: ncbi_taxonomy synonym: "Listeria monocytogenes serotype 4b strain F2365" EXACT equivalent_name [] synonym: "Listeria monocytogenes str. 4b F2365" EXACT misspelling [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:266264 name: Cupriavidus metallidurans CH34 namespace: ncbi_taxonomy synonym: "Cupriavidus metallidurans str. CH34" EXACT equivalent_name [] synonym: "Cupriavidus metallidurans strain CH34" EXACT equivalent_name [] synonym: "Ralstonia metallidurans CH34" EXACT synonym [] synonym: "Wautersia metallidurans CH34" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:267377 name: Methanococcus maripaludis S2 namespace: ncbi_taxonomy synonym: "Methanococcus maripaludis LL" EXACT synonym [] synonym: "Methanococcus maripaludis str. S2" EXACT equivalent_name [] synonym: "Methanococcus maripaludis strain S2" EXACT equivalent_name [] is_a: NCBITaxon:2157 ! Archaea property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:267608 name: Ralstonia solanacearum GMI1000 namespace: ncbi_taxonomy synonym: "Ralstonia solanacearum str. GMI1000" EXACT equivalent_name [] synonym: "Ralstonia solanacearum strain GMI1000" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:2708 name: Citrus limon namespace: ncbi_taxonomy synonym: "Citrus limonum" EXACT synonym [] synonym: "Citrus x limon" EXACT synonym [] synonym: "lemon" EXACT common_name [] xref: NCIt:C72005 xref: SNOMEDCT:103589008 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:2711 name: Citrus sinensis namespace: ncbi_taxonomy synonym: "apfelsine" EXACT common_name [] synonym: "Citrus sinensis (L.) Osbeck" EXACT synonym [] synonym: "Citrus x sinensis" EXACT synonym [] synonym: "naranja" EXACT common_name [] synonym: "navel orange" EXACT common_name [] synonym: "sweet orange" EXACT common_name [] synonym: "Valencia orange" EXACT common_name [] xref: MeSH:D032084 xref: SNOMEDCT:103588000 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:272556 name: Aggregatibacter actinomycetemcomitans HK1651 namespace: ncbi_taxonomy synonym: "Actinobacillus actinomycetemcomitans HK1651" EXACT synonym [] synonym: "Aggregatibacter actinomycetemcomitans str. HK1651" EXACT equivalent_name [] synonym: "Aggregatibacter actinomycetemcomitans strain HK1651" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:272559 name: Bacteroides fragilis NCTC 9343 namespace: ncbi_taxonomy synonym: "Bacteroides fragilis ATCC 25285" EXACT synonym [] synonym: "Bacteroides fragilis NCTC9343" EXACT misspelling [] synonym: "Bacteroides fragilis str. NCTC 9343" EXACT equivalent_name [] synonym: "Bacteroides fragilis strain NCTC 9343" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:272560 name: Burkholderia pseudomallei K96243 namespace: ncbi_taxonomy synonym: "Burkholderia pseudomallei str. K96243" EXACT equivalent_name [] synonym: "Burkholderia pseudomallei strain K96243" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:272562 name: Clostridium acetobutylicum ATCC 824 namespace: ncbi_taxonomy synonym: "Clostridium acetobutylicum DSM 792" EXACT synonym [] synonym: "Clostridium acetobutylicum NCIMB 8052" EXACT synonym [] synonym: "Clostridium acetobutylicum str. ATCC 824" EXACT equivalent_name [] synonym: "Clostridium acetobutylicum strain ATCC 824" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:272563 name: Clostridium difficile 630 namespace: ncbi_taxonomy synonym: "Clostridium difficile 630 (epidemic type X)" EXACT equivalent_name [] synonym: "Clostridium difficile str. 630" EXACT equivalent_name [] synonym: "Clostridium difficile strain 630" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:272623 name: Lactococcus lactis subsp. lactis Il1403 namespace: ncbi_taxonomy synonym: "Lactococcus lactis subsp. lactis str. Il1403" EXACT equivalent_name [] synonym: "Lactococcus lactis subsp. lactis strain Il1403" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:272624 name: Legionella pneumophila subsp. pneumophila str. Philadelphia 1 namespace: ncbi_taxonomy synonym: "Legionella pneumophila subsp. pneumophila 'Philadelphia 1'" EXACT equivalent_name [] synonym: "Legionella pneumophila subsp. pneumophila strain Philadelphia 1" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:272630 name: Methylobacterium extorquens AM1 namespace: ncbi_taxonomy synonym: "Methylobacterium extorquens str. AM1" EXACT equivalent_name [] synonym: "Methylobacterium extorquens strain AM1" EXACT equivalent_name [] synonym: "Pseudomonas AM1" EXACT synonym [] synonym: "Pseudomonas sp. AM1" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:272843 name: Pasteurella multocida subsp. multocida str. Pm70 namespace: ncbi_taxonomy synonym: "Pasteurella multocida subsp. multocida Pm70" EXACT equivalent_name [] synonym: "Pasteurella multocida subsp. multocida strain Pm70" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:27291 name: Saccharomyces paradoxus namespace: ncbi_taxonomy is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:27292 name: Saccharomyces pastorianus namespace: ncbi_taxonomy synonym: "lager yeast" EXACT common_name [] synonym: "Saccharomyces pasteurianus" EXACT synonym [] xref: SNOMEDCT:68720002 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:272943 name: Rhodobacter sphaeroides 2.4.1 namespace: ncbi_taxonomy synonym: "Rhodobacter sphaeroides ATCC 17023" EXACT synonym [] synonym: "Rhodobacter sphaeroides ATH 2.4.1" EXACT synonym [] synonym: "Rhodobacter sphaeroides str. 2.4.1" EXACT equivalent_name [] synonym: "Rhodobacter sphaeroides strain 2.4.1" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:272944 name: Rickettsia conorii str. Malish 7 namespace: ncbi_taxonomy synonym: "Rickettsia conorii 'Malish 7'" EXACT equivalent_name [] synonym: "Rickettsia conorii strain Malish 7" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:273057 name: Sulfolobus solfataricus P2 namespace: ncbi_taxonomy synonym: "Sulfolobus solfataricus str. P2" EXACT equivalent_name [] synonym: "Sulfolobus solfataricus strain P2" EXACT equivalent_name [] is_a: NCBITaxon:2157 ! Archaea property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:273075 name: Thermoplasma acidophilum DSM 1728 namespace: ncbi_taxonomy synonym: "Thermoplasma acidophilum str. DSM 1728" EXACT equivalent_name [] synonym: "Thermoplasma acidophilum strain DSM 1728" EXACT equivalent_name [] is_a: NCBITaxon:2157 ! Archaea property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:27334 name: Penicillium expansum namespace: ncbi_taxonomy synonym: "Penicillium expasum" EXACT misspelling [] xref: SNOMEDCT:28266005 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:273357 name: Ngari virus namespace: ncbi_taxonomy is_a: NCBITaxon:10239 ! Virus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:273384 name: Brevibacterium aurantiacum namespace: ncbi_taxonomy synonym: "Brevibacterium aurantiacum Gavrish et al. 2005" EXACT synonym [] xref: SNOMEDCT:431090003 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:2759 name: Eukaryota synonym: "Eucaryotae" EXACT [] synonym: "eucaryotes" EXACT [] synonym: "Eukarya" EXACT [] xref: MeSH:D056890 xref: NCIt:C25796 xref: NIFSTD:birnlex_399 xref: SNOMEDCT:415671008 is_a: OBI:0100026 ! organism property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001449 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: NCBITaxon:27606 name: Eubalaena glacialis namespace: ncbi_taxonomy synonym: "Balaena glacialis" EXACT synonym [] synonym: "North Atlantic right whale" EXACT common_name [] synonym: "northern right whale" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:27706 name: Micropterus salmoides namespace: ncbi_taxonomy synonym: "largemouth bass" EXACT common_name [] synonym: "largemouth blackbass" EXACT common_name [] synonym: "Micropterus salmoides (Lacepede, 1802)" EXACT synonym [] xref: SNOMEDCT:83830009 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:27771 name: Limanda limanda namespace: ncbi_taxonomy synonym: "common dab" EXACT common_name [] synonym: "dab" EXACT common_name [] synonym: "Limanda limanda (Linnaeus, 1758)" EXACT synonym [] synonym: "Liopsetta limanda" EXACT synonym [] synonym: "Pleuronectes limanda" EXACT synonym [] xref: SNOMEDCT:227058008 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:278028 name: Naumovozyma namespace: ncbi_taxonomy synonym: "Naumovia" EXACT synonym [] is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:2788 name: Pyropia yezoensis namespace: ncbi_taxonomy synonym: "Porphyra yezoensis" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:28035 name: Staphylococcus lugdunensis namespace: ncbi_taxonomy xref: MeSH:D057787 xref: NCIt:C86767 xref: SNOMEDCT:103494005 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:28037 name: Streptococcus mitis namespace: ncbi_taxonomy xref: MeSH:D034361 xref: NCIt:C89774 xref: SNOMEDCT:57997003 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:28038 name: Lactobacillus curvatus namespace: ncbi_taxonomy synonym: "Bacterium curvatum" EXACT synonym [] synonym: "Bacterium curvatum" EXACT synonym [NCBITaxonRef:Troili-Petersson_1903] synonym: "Lactobacillus curvatus (Troili-Petersson 1903) Abo-Elnaga and Kandler 1965 (Approved Lists 1980) eme" EXACT synonym [] xref: SNOMEDCT:52265004 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:280463 name: Emiliania huxleyi CCMP1516 namespace: ncbi_taxonomy synonym: "Emiliania huxleyi CCMP2090" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:28081 name: Bordetella sp. namespace: ncbi_taxonomy is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:28097 name: Ralstonia syzygii namespace: ncbi_taxonomy synonym: "Burkholderia syzygii" EXACT synonym [] synonym: "Pseudomonas syzygii" EXACT synonym [] xref: SNOMEDCT:415237008 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:28116 name: Bacteroides ovatus namespace: ncbi_taxonomy synonym: "Bacteroides fragilis subsp. ovatus" EXACT synonym [] synonym: "Pasteurella ovata" EXACT synonym [] synonym: "Pseudobacterium ovatum" EXACT synonym [] xref: NCIt:C86175 xref: SNOMEDCT:86936008 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:28147 name: Salmonella enterica subsp. enterica serovar Oranienburg namespace: ncbi_taxonomy synonym: "Salmonella oranienberg" EXACT synonym [] synonym: "Salmonella oranienburg" EXACT synonym [] xref: SNOMEDCT:46667007 is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:28150 name: Salmonella enterica subsp. enterica serovar Senftenberg namespace: ncbi_taxonomy synonym: "Salmonella enterica serovar Senftenberg" EXACT synonym [] synonym: "Salmonella senftenberg" EXACT synonym [] xref: SNOMEDCT:18163008 is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:281680 name: Oscheius myriophila is_a: NCBITaxon:55887 ! Rhabditinae [Term] id: NCBITaxon:282458 name: Staphylococcus aureus subsp. aureus MRSA252 namespace: ncbi_taxonomy synonym: "Staphylococcus aureus subsp. aureus str. MRSA252" EXACT equivalent_name [] synonym: "Staphylococcus aureus subsp. aureus strain MRSA252" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:282459 name: Staphylococcus aureus subsp. aureus MSSA476 namespace: ncbi_taxonomy synonym: "Staphylococcus aureus subsp. aureus str. MSSA476" EXACT equivalent_name [] synonym: "Staphylococcus aureus subsp. aureus strain MSSA476" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:28280 name: Human adenovirus 4 namespace: ncbi_taxonomy synonym: "Adenovirus type 4" EXACT synonym [] synonym: "Human adenovirus type 4" EXACT synonym [] synonym: "Mastadenovirus h4" EXACT synonym [] xref: SNOMEDCT:23684001 is_a: NCBITaxon:10239 ! Virus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:28284 name: Human adenovirus 40 namespace: ncbi_taxonomy synonym: "Adenovirus type 40" EXACT synonym [] synonym: "Human adenovirus type 40" EXACT synonym [] synonym: "Mastadenovirus 40" EXACT synonym [] synonym: "Mastadenovirus h40" EXACT synonym [] xref: SNOMEDCT:68883008 is_a: NCBITaxon:10239 ! Virus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:28285 name: Human adenovirus 5 namespace: ncbi_taxonomy synonym: "adenovirus Ad5" EXACT synonym [] synonym: "Adenovirus type 5" EXACT synonym [] synonym: "adenovirus type 5 AD5" EXACT synonym [] synonym: "Human adenovirus type 5" EXACT synonym [] synonym: "Mastadenovirus 5" EXACT synonym [] synonym: "Mastadenovirus h5" EXACT synonym [] xref: SNOMEDCT:2185006 is_a: NCBITaxon:10239 ! Virus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:28377 name: Anolis carolinensis namespace: ncbi_taxonomy synonym: "green anole" EXACT common_name [] xref: SNOMEDCT:21730003 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:28450 name: Burkholderia pseudomallei namespace: ncbi_taxonomy synonym: "Bacillus pseudomallei" EXACT synonym [] synonym: "Bacterium whitmori" EXACT synonym [] synonym: "Burkholderia pseudomallai" EXACT misspelling [] synonym: "Loefflerella pseudomallei" EXACT synonym [] synonym: "Malleomyces pseudomallei" EXACT synonym [] synonym: "Pseudomonas pseudomallei" EXACT synonym [] xref: MeSH:D016957 xref: NCIt:C86227 xref: SNOMEDCT:116399000 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:284812 name: Schizosaccharomyces pombe 972h- namespace: ncbi_taxonomy is_a: NCBITaxon:4896 ! Schizosaccharomyces pombe property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: NCBITaxon:2850 name: Phaeodactylum tricornutum namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:28572 name: Penicillium funiculosum namespace: ncbi_taxonomy is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:285720 name: Senecio cambrensis namespace: ncbi_taxonomy synonym: "Senecio cambrensis Rosser" EXACT synonym [] synonym: "Welsh ragwort" EXACT common_name [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:28573 name: Penicillium islandicum namespace: ncbi_taxonomy xref: SNOMEDCT:23755002 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:285950 name: Aegilops tauschii x Triticum turgidum namespace: ncbi_taxonomy synonym: "synthetic wheat" EXACT common_name [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:286 name: Pseudomonas def: "Pseudomonas is a genus of Gram-negative, aerobic gammaproteobacteria, belonging to the family Pseudomonadaceae containing 191 validly described species." [] xref: https://en.wikipedia.org/wiki/Pseudomonas is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:28610 name: Rhagoletis pomonella namespace: ncbi_taxonomy synonym: "apple maggot" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:286192 name: Saccharum officinarum complex namespace: ncbi_taxonomy synonym: "cultivated sugarcanes" EXACT common_name [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:286784 name: Salmonella enterica subsp. enterica serovar Emek namespace: ncbi_taxonomy is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:287 name: Pseudomonas aeruginosa namespace: ncbi_taxonomy synonym: "Bacillus aeruginosus" EXACT synonym [] synonym: "Bacillus pyocyaneus" EXACT synonym [] synonym: "Bacterium aeruginosum" EXACT synonym [] synonym: "Bacterium pyocyaneum" EXACT synonym [] synonym: "Micrococcus pyocyaneus" EXACT synonym [] synonym: "Peudomonas aeruginosa" EXACT misspelling [] synonym: "Pseudomonas polycolor" EXACT synonym [NCBITaxonRef:Clara_1930] synonym: "Pseudomonas polycolor" EXACT synonym [] synonym: "Pseudomonas pyocyanea" EXACT synonym [] xref: MeSH:D011550 xref: NCIt:C86696 xref: SNOMEDCT:52499004 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:2879 name: Ectocarpus namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:2880 name: Ectocarpus siliculosus namespace: ncbi_taxonomy is_a: NCBITaxon:2879 ! Ectocarpus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:28829 name: Solea senegalensis namespace: ncbi_taxonomy synonym: "Senegalese sole" EXACT common_name [] synonym: "Solea senegalensis Kaup, 1858" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:28841 name: Moniezia expansa namespace: ncbi_taxonomy synonym: "sheep tapeworm" EXACT common_name [] xref: SNOMEDCT:63435000 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:28901 name: Salmonella enterica namespace: ncbi_taxonomy synonym: "Bacillus cholerae-suis" EXACT synonym [] synonym: "Salmonella cholerae-suis" EXACT synonym [] synonym: "Salmonella choleraesuis" EXACT synonym [] synonym: "Salmonella enterica ser. choleraesuis" EXACT synonym [] xref: MeSH:D019779 xref: NCIt:C86731 xref: SNOMEDCT:110378009 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:28930 name: Fagus sylvatica namespace: ncbi_taxonomy synonym: "European beech" EXACT common_name [] synonym: "Fagus sylvestris" EXACT synonym [] xref: NCIt:C72316 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:28985 name: Kluyveromyces lactis namespace: ncbi_taxonomy synonym: "Candida sphaerica" EXACT anamorph [] synonym: "Kluyveromyces drosophilarum" EXACT synonym [] synonym: "Kluyveromyces lactis var. drosophilarum" EXACT synonym [] synonym: "Kluyveromyces lactis var. lactis" EXACT synonym [] synonym: "Kluyveromyces marxianus lactis" EXACT synonym [] synonym: "Kluyveromyces marxianus var. drosophilarum" EXACT synonym [] synonym: "Kluyveromyces marxianus var. lactis" EXACT synonym [] xref: SNOMEDCT:243430004 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:2903 name: Emiliania huxleyi namespace: ncbi_taxonomy synonym: "Emiliania huxleyii" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:290397 name: Anaeromyxobacter dehalogenans 2CP-C namespace: ncbi_taxonomy synonym: "Anaeromyxobacter dehalogenans ATCC BAA-259" EXACT synonym [] synonym: "Anaeromyxobacter dehalogenans str. 2CP-C" EXACT equivalent_name [] synonym: "Anaeromyxobacter dehalogenans strain 2CP-C" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:290402 name: Clostridium beijerinckii NCIMB 8052 namespace: ncbi_taxonomy synonym: "Clostridium beijerincki NCIMB 8052" EXACT misspelling [] synonym: "Clostridium beijerinckii str. NCIMB 8052" EXACT equivalent_name [] synonym: "Clostridium beijerinckii strain NCIMB 8052" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:29058 name: Helicoverpa armigera namespace: ncbi_taxonomy synonym: "American bollworm" EXACT common_name [] synonym: "corn ear worm" EXACT common_name [] synonym: "cotton bollworm" EXACT common_name [] synonym: "Helicoverpa armigera (Hubner, 1808)" EXACT synonym [] synonym: "Heliothis (Helicoverpa) armigera" EXACT synonym [] synonym: "Heliothis armigera" EXACT synonym [] synonym: "scarce bordered straw" EXACT common_name [] synonym: "tobacco budworm" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:291331 name: Xanthomonas oryzae pv. oryzae KACC10331 namespace: ncbi_taxonomy synonym: "Xanthomonas oryzae pv. oryzae str. KACC10331" EXACT equivalent_name [] synonym: "Xanthomonas oryzae pv. oryzae strain KACC10331" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:29149 name: Protomelas similis namespace: ncbi_taxonomy synonym: "Protomelas similes" EXACT misspelling [] synonym: "Protomelas similis (Regan, 1922)" EXACT synonym [] synonym: "red empress cichlid" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:29158 name: Mytilus galloprovincialis namespace: ncbi_taxonomy synonym: "Mediterranean mussel" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:29159 name: Crassostrea gigas namespace: ncbi_taxonomy synonym: "Crassotrea gigas" EXACT misspelling [] synonym: "Ostrea gigas" EXACT synonym [] synonym: "Pacific oyster" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:29176 name: Neospora caninum namespace: ncbi_taxonomy xref: SNOMEDCT:370595003 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:291982 name: Strombus gigas namespace: ncbi_taxonomy synonym: "pink conch" EXACT common_name [] synonym: "queen conch" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:292 name: Burkholderia cepacia namespace: ncbi_taxonomy synonym: "Burgholderia cepacia" EXACT misspelling [] synonym: "Burkholderia capacia" EXACT misspelling [] synonym: "Burkholderia cepacia genomovar I" EXACT equivalent_name [] synonym: "Pseudomonas cepacia" EXACT synonym [] synonym: "Pseudomonas kingii" EXACT synonym [] synonym: "Pseudomonas multivorans" EXACT synonym [] xref: MeSH:D016956 xref: NCIt:C76376 xref: SNOMEDCT:113669008 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:2926 name: Alexandrium tamarense namespace: ncbi_taxonomy synonym: "Alexandrium tamarence" EXACT misspelling [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:29291 name: Methanococcoides burtonii namespace: ncbi_taxonomy xref: SNOMEDCT:434197001 is_a: NCBITaxon:2157 ! Archaea property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:29303 name: Streptomyces cattleya namespace: ncbi_taxonomy is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:29341 name: Clostridium argentinense namespace: ncbi_taxonomy synonym: "Clostridium argentinense Suen et al. 1988" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:293653 name: Streptococcus pyogenes MGAS5005 namespace: ncbi_taxonomy is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:29385 name: Staphylococcus saprophyticus namespace: ncbi_taxonomy xref: MeSH:D057790 xref: NCIt:C86770 xref: SNOMEDCT:19743000 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:29390 name: Streptococcus gordonii str. Challis namespace: ncbi_taxonomy synonym: "Streptococcus gordonii Challis" EXACT equivalent_name [] synonym: "Streptococcus gordonii Challis NCTC7868" EXACT synonym [] synonym: "Streptococcus gordonii subsp. challis" EXACT misnomer [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:294 name: Pseudomonas fluorescens namespace: ncbi_taxonomy synonym: "Bacillus fluorescens" EXACT synonym [] synonym: "Bacillus fluorescens liquefaciens" EXACT synonym [] synonym: "Bacterium fluorescen" EXACT synonym [] synonym: "Liquidomonas fluorescens" EXACT synonym [] xref: MeSH:D011551 xref: NCIt:C86700 xref: SNOMEDCT:39289003 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:29459 name: Brucella melitensis namespace: ncbi_taxonomy synonym: "Micrococcus melitensis" EXACT synonym [] synonym: "Streptococcus Miletensis" EXACT synonym [] xref: ICD9:023.0 xref: MeSH:D017347 xref: NCIt:C86218 xref: SNOMEDCT:72829003 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:29471 name: Pectobacterium atrosepticum namespace: ncbi_taxonomy synonym: "Bacillus atrosepticus" EXACT synonym [] synonym: "Bacterium atrosepticum" EXACT synonym [] synonym: "Bacterium cartovorum var. atrosepticum" EXACT synonym [] synonym: "Erwinia atroseptica" EXACT synonym [] synonym: "Erwinia caratovora subsp. atroseptica" EXACT misspelling [] synonym: "Erwinia carotovora atroseptica" EXACT synonym [] synonym: "Erwinia carotovora subsp. atroseptica" EXACT synonym [] synonym: "Erwinia carotovora var. atroseptica" EXACT synonym [] synonym: "Pectobacterium atrosepticum (van Hall 1902) Hauben et al. 1999" EXACT misnomer [] synonym: "Pectobacterium carotovorum subsp. atrosepticum" EXACT synonym [] synonym: "Pectobacterium carotovorum var. atrosepticum" EXACT synonym [] xref: SNOMEDCT:421190009 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:294748 name: Candida albicans WO-1 namespace: ncbi_taxonomy is_a: NCBITaxon:4890 ! Ascomycota property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:294934 name: Streptococcus pyogenes M49 591 namespace: ncbi_taxonomy synonym: "Streptococcus pyogenes str. M49 591" EXACT equivalent_name [] synonym: "Streptococcus pyogenes strain M49 591" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:295405 name: Bacteroides fragilis YCH46 namespace: ncbi_taxonomy synonym: "Bacteroides fragilis str. YCH46" EXACT equivalent_name [] synonym: "Bacteroides fragilis strain YCH46" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:29544 name: Azoarcus sp. namespace: ncbi_taxonomy is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:29583 name: Funaria hygrometrica namespace: ncbi_taxonomy synonym: "Funaria hygrometrica Hedw." EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:29596 name: Ceratopteris thalictroides namespace: ncbi_taxonomy synonym: "Ceratopteris thalictroides (L.) Brongn." EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:296543 name: Thalassiosira pseudonana CCMP1335 namespace: ncbi_taxonomy synonym: "Thalassiosira pseudonana strain CCMP1335" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:29655 name: Zostera marina namespace: ncbi_taxonomy is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:296591 name: Polaromonas sp. JS666 namespace: ncbi_taxonomy is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:29706 name: Spartina alterniflora namespace: ncbi_taxonomy synonym: "salt marsh cordgrass" EXACT common_name [] synonym: "smooth cordgrass" EXACT common_name [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:29729 name: Gossypium arboreum namespace: ncbi_taxonomy synonym: "Gossypium arboreum L." EXACT synonym [] synonym: "tree cotton" EXACT common_name [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:29760 name: Vitis vinifera namespace: ncbi_taxonomy synonym: "Vitis vinifera subsp. vinifera" EXACT synonym [] synonym: "wine grape" EXACT common_name [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:298378 name: Fusarium incarnatum namespace: ncbi_taxonomy synonym: "Fusarium pallidoroseum" EXACT synonym [] synonym: "Fusarium semitectum" EXACT synonym [] xref: SNOMEDCT:29238009 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:29875 name: Hypocrea virens namespace: ncbi_taxonomy synonym: "Gliocladium flavofuscum" EXACT synonym [] synonym: "Gliocladium virens" EXACT synonym [] synonym: "Trichoderma flavofuscum" EXACT synonym [] synonym: "Trichoderma virens" EXACT genbank_anamorph [] is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:29883 name: Laccaria bicolor namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:299033 name: Lactobacillus reuteri F275 namespace: ncbi_taxonomy synonym: "Lactobacillus reuteri F 275" EXACT synonym [] synonym: "Lactobacillus reuteri str. F275" EXACT equivalent_name [] synonym: "Lactobacillus reuteri strain F275" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:29916 name: Fusarium sp. namespace: ncbi_taxonomy is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:299768 name: Streptococcus thermophilus CNRZ1066 namespace: ncbi_taxonomy synonym: "Streptococcus thermophilus str. CNRZ1066" EXACT equivalent_name [] synonym: "Streptococcus thermophilus strain CNRZ1066" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:300 name: Pseudomonas mendocina namespace: ncbi_taxonomy xref: MeSH:D044203 xref: NCIt:C86702 xref: SNOMEDCT:59419001 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:300275 name: Lachancea namespace: ncbi_taxonomy is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:300852 name: Thermus thermophilus HB8 namespace: ncbi_taxonomy is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:302911 name: Bifidobacterium animalis subsp. lactis namespace: ncbi_taxonomy synonym: "Bifidobacterium lactis" EXACT synonym [] xref: SNOMEDCT:113490009 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:303 name: Pseudomonas putida namespace: ncbi_taxonomy synonym: "Arthrobacter siderocapsulatus" EXACT synonym [] synonym: "Bacillus fluorescens putidus" EXACT synonym [] synonym: "Bacillus putidus" EXACT synonym [] synonym: "Pseudomanas putida" EXACT misspelling [] synonym: "Pseudomonas arvilla" EXACT synonym [] synonym: "Pseudomonas convexa" EXACT synonym [] synonym: "Pseudomonas eisenbergii" EXACT synonym [] synonym: "Pseudomonas incognita" EXACT synonym [] synonym: "Pseudomonas ovalis" EXACT synonym [] synonym: "Pseudomonas rugosa" EXACT synonym [] synonym: "Pseudomonas sp. KDB25" EXACT synonym [] synonym: "Pseudomonas striata" EXACT synonym [] xref: MeSH:D016958 xref: NCIt:C86705 xref: SNOMEDCT:68608003 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:305 name: Ralstonia solanacearum namespace: ncbi_taxonomy synonym: "Bacillus solanacearum" EXACT synonym [] synonym: "Burkholderia solanacearum" EXACT synonym [] synonym: "Pseudomonas solanacearum" EXACT synonym [] xref: MeSH:D043368 xref: SNOMEDCT:114054002 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3055 name: Chlamydomonas reinhardtii namespace: ncbi_taxonomy synonym: "Chlamydomonas reihhardtii" EXACT misspelling [] synonym: "Chlamydomonas reinhardtii P.A.Dangeard" EXACT synonym [] synonym: "Chlamydomonas smithii" EXACT synonym [] synonym: "Chlamydomonas smithii R.W.Howshaw & H.Ettl" EXACT synonym [] xref: MeSH:D016825 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:30608 name: Microcebus murinus namespace: ncbi_taxonomy synonym: "gray mouse lemur" EXACT common_name [] synonym: "grey mouse lemur" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3067 name: Volvox carteri namespace: ncbi_taxonomy is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:308872 name: Phalaenopsis aphrodite subsp. formosana namespace: ncbi_taxonomy synonym: "Phalaenopsis amabilis var. formosa" EXACT synonym [] synonym: "Phalaenopsis aphrodite var. formosa" EXACT misspelling [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:309358 name: Saccharina latissima namespace: ncbi_taxonomy synonym: "Laminaria saccharina" EXACT synonym [] synonym: "Saccharina plana" EXACT misnomer [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:310453 name: Neofusicoccum parvum def: "Neofusicoccum parvum is a vascular pathogen that causes severe decline and dieback symptoms in grapevines worldwide." [] xref: PMID:23766404 is_a: NCBITaxon:4890 ! Ascomycota property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:311424 name: Dehalococcoides sp. VS namespace: ncbi_taxonomy is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:31192 name: Holothuria glaberrima namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:311982 name: Streptomyces hygroscopicus subsp. jinggangensis namespace: ncbi_taxonomy synonym: "'Streptomyces hygroscopicus subsp. jinggangensis'" EXACT synonym [] synonym: "Streptomyces hygroscopicus var. jinggangensis" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:31234 name: Caenorhabditis remanei namespace: ncbi_taxonomy synonym: "Caenorhabditis vulgarensis" EXACT misspelling [] synonym: "Caenorhabditis vulgariensis" EXACT misspelling [] synonym: "Caenorhabditis vulgaris" EXACT synonym [] synonym: "Caenorhabditis vulgaris Baird, Fitch & Emmons, 1994" EXACT synonym [] is_a: NCBITaxon:6237 ! Caenorhabditis property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:31271 name: Plasmodium chabaudi chabaudi namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:31285 name: Trypanosoma brucei gambiense namespace: ncbi_taxonomy synonym: "Trypanosoma (Trypanozoon) brucei gambiense" EXACT synonym [] synonym: "Trypanosoma gambiense" EXACT synonym [] xref: MeSH:D014347 xref: SNOMEDCT:20027006 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:31537 name: Lactococcus phage c2 namespace: ncbi_taxonomy synonym: "Bacteriophage c2" EXACT synonym [] synonym: "lactococcal bacteriophage c2" EXACT synonym [] synonym: "Lactococcus bacteriophage c2" EXACT synonym [] is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:316275 name: Aliivibrio salmonicida LFI1238 namespace: ncbi_taxonomy synonym: "Aliivibrio salmonicida str. LFI1238" EXACT equivalent_name [] synonym: "Aliivibrio salmonicida strain LFI1238" EXACT equivalent_name [] synonym: "Vibrio salmonicida LFI1238" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:31741 name: Wheat streak mosaic virus def: "Wheat streak mosaic virus (WSMV) is a plant pathogenic virus of the family Potyviridae that infects plants in the Poaceae family, especially wheat (Triticum spp.); it is globally distributed and vectored by the wheat curl mite, particularly in regions where wheat is widely grown." [] xref: Wikipedia:Wheat_streak_mosaic_virus is_a: NCBITaxon:10239 ! Virus property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:31870 name: Colletotrichum graminicola def: "Colletotrichum graminicola (teleomorph Glomerella graminicola) is a filamentous ascomycete that causes anthracnose disease of maize." [] is_a: NCBITaxon:4890 ! Ascomycota property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:318829 name: Magnaporthe oryzae namespace: ncbi_taxonomy synonym: "Pyricularia oryzae" EXACT genbank_anamorph [] synonym: "Pyricularia oryzae Cavara" EXACT synonym [] synonym: "rice blast fungus" EXACT common_name [] is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:31899 name: Caldicellulosiruptor bescii namespace: ncbi_taxonomy synonym: "Anaerocellum thermophilum" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:319 name: Pseudomonas syringae pv. phaseolicola namespace: ncbi_taxonomy synonym: "Pseudomonas savastanoi pv. phaseolicola" EXACT synonym [] synonym: "Pseudomonas syringae (PV. PHASEOLICOLA)" EXACT synonym [] synonym: "Pseudomonas syringae (pv. phaseolicola), and" EXACT misspelling [] synonym: "Pseudomonas syringae phaseolicola" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:319701 name: Streptococcus pyogenes MGAS6180 namespace: ncbi_taxonomy synonym: "Streptococcus pyogenes str. MGAS6180" EXACT equivalent_name [] synonym: "Streptococcus pyogenes strain MGAS6180" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:32025 name: Helicobacter hepaticus namespace: ncbi_taxonomy synonym: "Helicobacter ulmiensis" EXACT misspelling [] synonym: "Heliobacterium hepaticus" EXACT misspelling [] xref: MeSH:D044923 xref: SNOMEDCT:113541006 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:32046 name: Synechococcus elongatus namespace: ncbi_taxonomy is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3218 name: Physcomitrella patens namespace: ncbi_taxonomy is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:321956 name: Lactobacillus delbrueckii subsp. bulgaricus ATCC BAA-365 namespace: ncbi_taxonomy synonym: "Lactobacillus delbrueckii subsp. bulgaricus Lb-18" EXACT synonym [] synonym: "Lactobacillus delbrueckii subsp. bulgaricus str. ATCC BAA-365" EXACT equivalent_name [] synonym: "Lactobacillus delbrueckii subsp. bulgaricus strain ATCC BAA-365" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:32247 name: Rubus idaeus namespace: ncbi_taxonomy synonym: "European raspberry" EXACT common_name [] synonym: "red raspberry" EXACT common_name [] synonym: "Rubus idaeus L." EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:32264 name: Tetranychus urticae namespace: ncbi_taxonomy synonym: "red spider mite" EXACT common_name [] synonym: "Tetranychus urticae Koch, 1836" EXACT synonym [] synonym: "two-spotted spider mite" EXACT common_name [] synonym: "twospotted mite" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:323 name: Pseudomonas syringae pv. tomato {has_synonym_type="equivalent_name"} namespace: ncbi_taxonomy synonym: "Pseudomonas syringae (PV. TOMATO)" EXACT equivalent_name [] synonym: "Pseudomonas syringae tomato" EXACT [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / Sirarat Sarntivijai" xsd:string [Term] id: NCBITaxon:3246 name: Selaginella namespace: ncbi_taxonomy is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:32499 name: Julidochromis marlieri namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:32507 name: Neolamprologus brichardi namespace: ncbi_taxonomy synonym: "Lamprologus brichardi" EXACT synonym [] synonym: "lyretail cichlid" EXACT common_name [] synonym: "Neolamprologus brichardi (Poll, 1974)" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3258 name: Equisetum arvense def: "Equisetum arvense, the field horsetail or common horsetail is a herbaceous perennial plant, native throughout the arctic and temperate regions of the northern hemisphere." [] xref: Wikipedia:Equisetum_arvense is_a: NCBITaxon:33090 ! Viridiplantae property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:326028 name: Geranium dissectum namespace: ncbi_taxonomy synonym: "Geranium dissectum L." EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:32604 name: Human herpesvirus 6B namespace: ncbi_taxonomy synonym: "Human herpesvirus 6 type B" EXACT synonym [] xref: SNOMEDCT:773959421000087107 is_a: NCBITaxon:10239 ! Virus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:32630 name: synthetic construct namespace: ncbi_taxonomy synonym: "artificial" EXACT synonym [] synonym: "artificial gene" EXACT synonym [] synonym: "artificial sequence" EXACT synonym [] synonym: "synthetic" EXACT synonym [] synonym: "SYNTHETIC CONSTRUCT sequences" EXACT misspelling [] synonym: "synthetic constructs" EXACT synonym [] synonym: "synthetic DNA" EXACT synonym [] xref: NCIt:C61464 xref: SNOMEDCT:71967004 is_a: OBI:0100026 ! organism property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:326424 name: Frankia alni ACN14a namespace: ncbi_taxonomy synonym: "Frankia alni str. ACN14a" EXACT equivalent_name [] synonym: "Frankia alni strain ACN14a" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:326425 name: Lactobacillus helveticus CNRZ32 namespace: ncbi_taxonomy synonym: "Lactobacillus helveticus str. CNRZ32" EXACT equivalent_name [] synonym: "Lactobacillus helveticus strain CNRZ32" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:326426 name: Bifidobacterium breve UCC2003 namespace: ncbi_taxonomy synonym: "Bifidobacterium breve NCIMB 8807" EXACT synonym [] synonym: "Bifidobacterium breve NCIMB8807" EXACT misspelling [] synonym: "Bifidobacterium breve str. UCC2003" EXACT equivalent_name [] synonym: "Bifidobacterium breve strain UCC2003" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:328808 name: Streptopelia risoria namespace: ncbi_taxonomy xref: SNOMEDCT:423169007 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:329 name: Ralstonia pickettii namespace: ncbi_taxonomy synonym: "Burkholderia pickettii" EXACT synonym [] synonym: "Pseudomonas pickettii" EXACT synonym [] xref: MeSH:D049920 xref: NCIt:C86713 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:33045 name: Bartonella grahamii namespace: ncbi_taxonomy xref: SNOMEDCT:114225002 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:330779 name: Sulfolobus acidocaldarius DSM 639 namespace: ncbi_taxonomy synonym: "Sulfolobus acidocaldarius ATCC 33909" EXACT synonym [] synonym: "Sulfolobus acidocaldarius NCIB 11770" EXACT synonym [] is_a: NCBITaxon:2157 ! Archaea property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:33085 name: Entamoeba invadens namespace: ncbi_taxonomy xref: SNOMEDCT:35159009 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:330879 name: Aspergillus fumigatus Af293 namespace: ncbi_taxonomy is_a: NCBITaxon:4890 ! Ascomycota property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:33090 name: Viridiplantae def: "Viridiplantae are a clade comprising the green algae and land plants." [] synonym: "green plants" EXACT [] xref: MeSH:D057948 is_a: NCBITaxon:2759 ! Eukaryota property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0002633 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: NCBITaxon:3311 name: Ginkgo biloba namespace: ncbi_taxonomy synonym: "Gingko biloba" EXACT misspelling [] synonym: "ginkgo" EXACT common_name [] synonym: "Ginkgo biloba f. epiphylla" EXACT synonym [] synonym: "Ginkgo biloba var. epiphylla" EXACT synonym [] synonym: "maidenhair tree" EXACT common_name [] xref: MeSH:D020441 xref: NCIt:C93305 xref: SNOMEDCT:420733007 xref: SNOMEDCT:7182001 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:33125 name: Lepidium sativum namespace: ncbi_taxonomy xref: MeSH:D031220 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:33154 name: Opisthokonta def: "The eukaryotic supergroup Opisthokonta includes animals (Metazoa), fungi, and choanoflagellates, as well as the lesser known unicellular lineages Nucleariidae, Fonticula alba, Ichthyosporea, Filasterea and Corallochytrium limacisporum." [] xref: PMID:23083534 is_a: NCBITaxon:2759 ! Eukaryota property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:33208 name: Metazoa def: "Metazoa or animals are multicellular, eukaryotic organisms" [] synonym: "metazoans" EXACT [] synonym: "multicellular animals" EXACT [] xref: Wikipedia:Animal is_a: NCBITaxon:33154 ! Opisthokonta property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:332112 name: Saccharomyces cerevisiae x Saccharomyces kudriavzevii namespace: ncbi_taxonomy is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3326 name: Larix laricina namespace: ncbi_taxonomy synonym: "American larch" EXACT common_name [] synonym: "tamarack" EXACT common_name [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3329 name: Picea abies namespace: ncbi_taxonomy synonym: "Norway spruce" EXACT common_name [] synonym: "Picea abies L., Karst" EXACT misspelling [] synonym: "Picea excelsa" EXACT synonym [] synonym: "Pinus abies" EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3330 name: Picea glauca namespace: ncbi_taxonomy synonym: "white spruce" EXACT common_name [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3332 name: Picea sitchensis namespace: ncbi_taxonomy synonym: "Sitka spruce" EXACT common_name [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3335 name: Picea mariana namespace: ncbi_taxonomy synonym: "black spruce" EXACT common_name [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3347 name: Pinus radiata namespace: ncbi_taxonomy synonym: "Monterey pine" EXACT common_name [] xref: SNOMEDCT:76567009 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3348 name: Pinus strobus namespace: ncbi_taxonomy synonym: "Eastern white pine" EXACT common_name [] xref: NCIt:C72401 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3349 name: Pinus sylvestris namespace: ncbi_taxonomy synonym: "Scotch pine" EXACT common_name [] synonym: "Scots pine" EXACT common_name [] xref: MeSH:D041605 xref: NCIt:C72402 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:335992 name: Candidatus Pelagibacter ubique HTCC1062 namespace: ncbi_taxonomy synonym: "Candidatus Pelagibacter ubique str. HTCC1062" EXACT equivalent_name [] synonym: "Candidatus Pelagibacter ubique strain HTCC1062" EXACT equivalent_name [] synonym: "Pelagibacter ubique HTCC1062" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:33634 name: Stramenopiles def: "The stramenopiles (Heterokonta) are one of the phylogenetic groups of eukaryotes and include organisms as diverse as unicellular and multicellular algae, fungus-like cells, and parasitic and free-living flagellates." [] synonym: "heterokonts" EXACT [] is_a: NCBITaxon:2759 ! Eukaryota property_value: definition:citation "Patterson, D. J. 1989. Stramenopiles: chromophytes from a protistan perspective, p. 357-379. In J. C. Green, B. S. C. Leadbeater, and W. L. Diver (ed.), Chromophyte algae: problems and perspectives. Clarendon Press, Oxford, United Kingdom." xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:33653 name: Cafeteria roenbergensis namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:336722 name: Zymoseptoria tritici IPO323 def: "Zymoseptoria tritici IPO323 is one isolate of Zymoseptoria tritici" [] xref: PMID:18945169 is_a: NCBITaxon:1047171 ! Zymoseptoria tritici property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:337 name: Burkholderia glumae def: "Burkholderia glumae is bacterial plant pathogen that causes bacterial panicle blight of rice." [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:33743 name: Kyasanur forest disease virus namespace: ncbi_taxonomy xref: SNOMEDCT:32137001 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:338 name: Xanthomonas def: "Xanthomonas is a genus of Proteobacteria, many of which cause plant diseases." [] xref: https://en.wikipedia.org/wiki/Xanthomonas is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:338187 name: Vibrio harveyi ATCC BAA-1116 namespace: ncbi_taxonomy synonym: "Vibrio [harveyi] ATCC BAA-1116" EXACT equivalent_name [] synonym: "Vibrio campbellii ATCC BAA-1116" EXACT synonym [] synonym: "Vibrio harveyi BB120" EXACT synonym [] synonym: "Vibrio harveyi str. ATCC BAA-1116" EXACT equivalent_name [] synonym: "Vibrio harveyi strain ATCC BAA-1116" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:33858 name: environmental samples namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:33892 name: Mycobacterium bovis BCG namespace: ncbi_taxonomy synonym: "bacillus Calmette-Guerin" EXACT synonym [] synonym: "bacillus Calmette-Guerin BCG" EXACT synonym [] synonym: "BCG" EXACT acronym [] synonym: "Mycobacterium tuberculosis var. bovis BCG" EXACT synonym [] xref: NCIt:C85546 is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:33903 name: Streptomyces avermitilis namespace: ncbi_taxonomy synonym: "Streptomyces avermectinius" EXACT synonym [] synonym: "Streptomyces avermectinius Takahashi et al. 2002" EXACT synonym [] synonym: "Streptomyces avermitilis" EXACT synonym [NCBITaxonRef:Burg_et_al._1979] synonym: "Streptomyces avermitilis (ex Burg et al. 1979) Kim and Goodfellow 2002" EXACT synonym [] xref: SNOMEDCT:438017007 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:33959 name: Lactobacillus johnsonii namespace: ncbi_taxonomy xref: NCIt:C86481 xref: SNOMEDCT:113786006 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:33964 name: Leuconostoc citreum namespace: ncbi_taxonomy synonym: "Leuconostoc amelibiosum" EXACT synonym [] synonym: "Leuconostoc amelobiosum" EXACT misspelling [] xref: NCIt:C86495 xref: SNOMEDCT:113821008 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:33968 name: Leuconostoc pseudomesenteroides namespace: ncbi_taxonomy xref: NCIt:C86498 xref: SNOMEDCT:243235006 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:34 name: Myxococcus xanthus namespace: ncbi_taxonomy xref: MeSH:D016941 xref: SNOMEDCT:433425003 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:340 name: Xanthomonas campestris pv. campestris namespace: ncbi_taxonomy synonym: "Xanthomonas campestris (pv. campestris)" EXACT equivalent_name [] synonym: "Xanthomonas campestris campestris" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:34063 name: Actinobacillus pleuropneumoniae serovar 2 namespace: ncbi_taxonomy synonym: "Actinobacillus pleuropneumoniae 2" EXACT synonym [] synonym: "Actinobacillus pleuropneumoniae serotype 2" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3415 name: Liriodendron tulipifera namespace: ncbi_taxonomy is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:34199 name: Aloe vera namespace: ncbi_taxonomy synonym: "acibar" EXACT common_name [] synonym: "Aloe barbadensi" EXACT misspelling [] synonym: "Aloe barbadensis" EXACT synonym [] synonym: "aloe-vera" EXACT common_name [] synonym: "babosa" EXACT common_name [] synonym: "Barbados aloe" EXACT common_name [] xref: NCIt:C28815 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:342108 name: Magnetospirillum magneticum AMB-1 namespace: ncbi_taxonomy synonym: "Magnetospirillum magneticum str. AMB-1" EXACT equivalent_name [] synonym: "Magnetospirillum magneticum strain AMB-1" EXACT equivalent_name [] synonym: "Magnetospirillum sp. (strain AMB-1)" EXACT synonym [] synonym: "Magnetospirillum sp. AMB-1" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:342110 name: Ralstonia solanacearum UW551 namespace: ncbi_taxonomy synonym: "Ralstonia solanacearum str. UW551" EXACT equivalent_name [] synonym: "Ralstonia solanacearum strain UW551" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:34245 name: Zinnia violacea namespace: ncbi_taxonomy synonym: "garden zinnia" EXACT common_name [] synonym: "Zinnia elegans" EXACT synonym [] synonym: "Zinnia violacea Cav." EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:34274 name: Gossypium herbaceum namespace: ncbi_taxonomy synonym: "Arabian cotton" EXACT common_name [] synonym: "Gossypium herbaceum L." EXACT synonym [] synonym: "Gossypium herbacium" EXACT misspelling [] xref: SNOMEDCT:91299008 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:34275 name: Gossypium mustelinum namespace: ncbi_taxonomy synonym: "Gossypium mustelinum Miers ex G.Watt" EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:34276 name: Gossypium darwinii namespace: ncbi_taxonomy synonym: "Gossypium darwinii G.Watt" EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:34277 name: Gossypium tomentosum namespace: ncbi_taxonomy synonym: "Gossypium tomentosum Nutt. ex Seem." EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:34280 name: Gossypium longicalyx namespace: ncbi_taxonomy synonym: "Gossypium longicalyx J.B.Hutch. & B.J.S.Lee" EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:34305 name: Lotus japonicus namespace: ncbi_taxonomy synonym: "Lotus corniculatus var. japonicus" EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:34317 name: Eucalyptus globulus namespace: ncbi_taxonomy synonym: "blue gum" EXACT common_name [] xref: NCIt:C72308 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3435 name: Persea americana namespace: ncbi_taxonomy synonym: "avocado" EXACT common_name [] synonym: "Persea americanum" EXACT synonym [] xref: NCIt:C71988 xref: SNOMEDCT:28140004 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:34386 name: Trichophyton schoenleinii namespace: ncbi_taxonomy xref: SNOMEDCT:56075008 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:34388 name: Trichophyton violaceum namespace: ncbi_taxonomy xref: SNOMEDCT:67490006 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:34391 name: Epidermophyton floccosum namespace: ncbi_taxonomy xref: SNOMEDCT:26403006 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:343990 name: Populus maximowiczii x Populus nigra namespace: ncbi_taxonomy is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:34506 name: Strongyloides ratti namespace: ncbi_taxonomy xref: MeSH:D017170 xref: SNOMEDCT:90369009 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:346187 name: Teleopsis thaii namespace: ncbi_taxonomy synonym: "Teleopsis sp. Thailand" EXACT equivalent_name [] synonym: "Teleopsis thaii Foldvari & Carr, 2007" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:34620 name: Dermacentor andersoni namespace: ncbi_taxonomy xref: SNOMEDCT:24632000 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3467 name: Eschscholzia californica namespace: ncbi_taxonomy synonym: "California poppy" EXACT common_name [] synonym: "Eschscholtzia californica" EXACT misspelling [] synonym: "Eschscholzia californica Cham." EXACT synonym [] synonym: "Eschscholzia californica subsp. mexicana (Greene) C.Clark" EXACT synonym [] synonym: "Eschscholzia mexicana Greene" EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3469 name: Papaver somniferum namespace: ncbi_taxonomy synonym: "opium poppy" EXACT common_name [] synonym: "Papaver somniferum L." EXACT synonym [] xref: SNOMEDCT:86096008 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:347834 name: Rhizobium etli CFN 42 namespace: ncbi_taxonomy synonym: "Rhizobium etli CFN42" EXACT misspelling [] synonym: "Rhizobium etli str. CFN 42" EXACT equivalent_name [] synonym: "Rhizobium etli strain CFN 42" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3483 name: Cannabis sativa namespace: ncbi_taxonomy synonym: "hemp" EXACT common_name [] synonym: "marijuana" EXACT common_name [] xref: NCIt:C72273 xref: SNOMEDCT:10083006 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3486 name: Humulus lupulus namespace: ncbi_taxonomy synonym: "common hop" EXACT common_name [] synonym: "European hop" EXACT common_name [] xref: SNOMEDCT:70891004 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:349123 name: Lactobacillus reuteri 100-23 namespace: ncbi_taxonomy synonym: "Lactobacillus reuteri str. 100-23" EXACT equivalent_name [] synonym: "Lactobacillus reuteri strain 100-23" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:349161 name: Desulfotomaculum reducens MI-1 namespace: ncbi_taxonomy synonym: "Desulfotomaculum reducens str. MI-1" EXACT equivalent_name [] synonym: "Desulfotomaculum reducens strain MI-1" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3505 name: Betula pendula namespace: ncbi_taxonomy synonym: "Betula pendula Roth" EXACT synonym [] synonym: "Betula verrucosa" EXACT synonym [] synonym: "European white birch" EXACT common_name [] synonym: "white birch" EXACT common_name [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:35128 name: Thalassiosira pseudonana namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:351534 name: Ptomaphagus namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3517 name: Alnus glutinosa namespace: ncbi_taxonomy synonym: "Alnus gluticosa" EXACT misspelling [] synonym: "Alnus glutinosa (L.) Gaertn." EXACT synonym [] xref: NCIt:C72234 xref: SNOMEDCT:69545006 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:352164 name: Sphingomonas sp. NM05 namespace: ncbi_taxonomy synonym: "Sphingomonas sp. 05" EXACT misspelling [] is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3522 name: Casuarina glauca namespace: ncbi_taxonomy synonym: "Casuarina glauca Sieber ex Spreng." EXACT synonym [] synonym: "swamp oak" EXACT common_name [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:352374 name: Populus fremontii x Populus angustifolia namespace: ncbi_taxonomy is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:35305 name: California encephalitis virus namespace: ncbi_taxonomy synonym: "California bunyavirus group" EXACT synonym [] synonym: "California encephalitis virus group" EXACT synonym [] synonym: "California serogroup" EXACT synonym [] synonym: "California virus" EXACT synonym [] xref: SNOMEDCT:64979004 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:35328 name: Bluetongue virus 2 namespace: ncbi_taxonomy synonym: "bluetongue virus BTV 2" EXACT misnomer [] synonym: "Bluetongue virus type 2" EXACT synonym [] synonym: "BTV-2" EXACT acronym [] xref: SNOMEDCT:39257007 is_a: NCBITaxon:10239 ! Virus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:354242 name: Campylobacter jejuni subsp. jejuni 81-176 namespace: ncbi_taxonomy synonym: "Campylobacter jejuni subsp. jejuni str. 81-176" EXACT equivalent_name [] synonym: "Campylobacter jejuni subsp. jejuni strain 81-176" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:35523 name: Daphnia pulicaria namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:35525 name: Daphnia magna namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:35554 name: Geobacter sulfurreducens namespace: ncbi_taxonomy xref: SNOMEDCT:434537005 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3562 name: Spinacia oleracea namespace: ncbi_taxonomy synonym: "Spinacea oleracea" EXACT synonym [] synonym: "spinach" EXACT common_name [] synonym: "spinach oleracea" EXACT misspelling [] synonym: "Spinacia oleracea L" EXACT misspelling [] synonym: "Spinacia oleracea0" EXACT misspelling [] xref: MeSH:D018724 xref: NCIt:C72012 xref: SNOMEDCT:256329006 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:357 name: Agrobacterium namespace: ncbi_taxonomy synonym: "Polymonas" EXACT synonym [] xref: MeSH:D060054 xref: NCIt:C86011 xref: SNOMEDCT:33436009 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:35787 name: Lactobacillus pontis namespace: ncbi_taxonomy synonym: "Lactobacillus pontis Vogel et al. 1994" EXACT synonym [] xref: SNOMEDCT:113797006 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:358 name: Agrobacterium tumefaciens namespace: ncbi_taxonomy synonym: "Achromobacter radiobacter" EXACT synonym [] synonym: "Agrobacterium biovar 1" EXACT synonym [] synonym: "Agrobacterium radiobacter" EXACT synonym [] synonym: "Agrobacterium tumefacien" EXACT misspelling [] synonym: "Alcaligenes radiobacter" EXACT synonym [] synonym: "Bacillus radiobacter" EXACT synonym [] synonym: "Bacterium radiobacter" EXACT synonym [] synonym: "Bacterium tumefaciens" EXACT synonym [] synonym: "Phytomonas tumefaciens" EXACT synonym [] synonym: "Polymonas tumefaciens" EXACT synonym [] synonym: "Pseudomonas radiobacter" EXACT synonym [] synonym: "Pseudomonas tumefaciens" EXACT synonym [] synonym: "Rhizobium radiobacter" EXACT genbank_synonym [] xref: MeSH:D016960 xref: NCIt:C86138 xref: SNOMEDCT:438107000 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:35814 name: Bordetella holmesii namespace: ncbi_taxonomy synonym: "Bordetella holmesii Weyant et al. 1995" EXACT synonym [] synonym: "CDC nonoxidizer group 2 (NO-2)" EXACT synonym [] xref: SNOMEDCT:116035000 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:358574 name: uncultured microorganism namespace: ncbi_taxonomy is_a: OBI:0100026 ! organism property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:359986 name: Lagopus lagopus scotica namespace: ncbi_taxonomy synonym: "Lagopus lagopus scoticus" EXACT synonym [] synonym: "Lagopus scoticus" EXACT synonym [] xref: SNOMEDCT:444372005 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:360094 name: Xanthomonas oryzae pv. oryzae PXO99A namespace: ncbi_taxonomy synonym: "Xanthomonas oryzae pv. oryzae PX099A" EXACT misspelling [] synonym: "Xanthomonas oryzae pv. oryzae str. PXO99A" EXACT equivalent_name [] synonym: "Xanthomonas oryzae pv. oryzae strain PXO99A" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3605 name: Vitis aestivalis namespace: ncbi_taxonomy synonym: "Vitis aestivalis Michx." EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:36080 name: Mucor circinelloides namespace: ncbi_taxonomy synonym: "Rhizomucor circinelloides" EXACT synonym [] xref: SNOMEDCT:67625003 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:360807 name: Roseburia inulinivorans namespace: ncbi_taxonomy is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:36090 name: Globodera pallida namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:362338 name: Hirschmanniella oryzae def: "Hirschmanniella oryzae is the most abundant plant-parasitic nematode in flooded rice ecosystems all over the world" [] xref: PMID:24279397 is_a: EO:0007337 ! Nematoda property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:36247 name: Gyps fulvus namespace: ncbi_taxonomy is_a: NCBITaxon:8965 ! Gyps property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:36329 name: Plasmodium falciparum 3D7 namespace: ncbi_taxonomy synonym: "Plasmodium falciparum (isolate 3D7)" EXACT synonym [] synonym: "PLASMODIUM FALCIPARUM (ISOLATE 3D7)." EXACT misspelling [] is_a: NCBITaxon:2759 ! Eukaryota property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3634 name: Gossypium barbadense namespace: ncbi_taxonomy synonym: "Egyptian cotton" EXACT common_name [] synonym: "Gossypium barbadense L." EXACT synonym [] synonym: "sea-island cotton" EXACT common_name [] xref: SNOMEDCT:17378008 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3635 name: Gossypium hirsutum namespace: ncbi_taxonomy synonym: "American cotton" EXACT common_name [] synonym: "cotton" EXACT common_name [] synonym: "Gossypium hirsutum subsp. mexicanum" EXACT synonym [] synonym: "Gossypium lanceolatum" EXACT synonym [] synonym: "Gossypium purpurascens" EXACT synonym [] synonym: "upland cotton" EXACT common_name [] xref: NCIt:C74488 xref: SNOMEDCT:54000004 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3641 name: Theobroma cacao namespace: ncbi_taxonomy synonym: "cacao" EXACT common_name [] synonym: "cocoa" EXACT common_name [] xref: MeSH:D002099 xref: SNOMEDCT:71950006 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:364106 name: Escherichia coli UTI89 namespace: ncbi_taxonomy synonym: "Escherichia coli str. UTI89" EXACT equivalent_name [] synonym: "Escherichia coli strain UTI89" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:364410 name: Granulibacter bethesdensis namespace: ncbi_taxonomy synonym: "Granulobacter bethesdensis" EXACT misspelling [] is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:36470 name: Streptococcus sp. 'group A' namespace: ncbi_taxonomy synonym: "group A streptococci" EXACT synonym [] synonym: "group A streptococcus" EXACT synonym [] synonym: "Streptococcus sp. (group A)" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3649 name: Carica papaya namespace: ncbi_taxonomy synonym: "Carica papaya L." EXACT synonym [] synonym: "Carica payaya" EXACT misspelling [] synonym: "mamon" EXACT common_name [] synonym: "papaya" EXACT common_name [] xref: NCIt:C72047 xref: SNOMEDCT:103584003 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3654 name: Citrullus lanatus namespace: ncbi_taxonomy synonym: "Citrullus lanatus (Thunb.) Matsum. & Nakai" EXACT synonym [] synonym: "wild melon" EXACT common_name [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3656 name: Cucumis melo namespace: ncbi_taxonomy synonym: "Cucumis melo var. markuwa Markino" EXACT misspelling [] synonym: "Cucurbita melo L." EXACT misspelling [] synonym: "muskmelon" EXACT common_name [] synonym: "Oriental melon" EXACT common_name [] xref: MeSH:D028463 xref: NCIt:C72030 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3659 name: Cucumis sativus namespace: ncbi_taxonomy synonym: "cucumber" EXACT common_name [] synonym: "cucumbers" EXACT common_name [] synonym: "Cucumis sativu" EXACT misspelling [] synonym: "Cucumis sativus L." EXACT synonym [] xref: MeSH:D018553 xref: NCIt:C71968 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3661 name: Cucurbita maxima namespace: ncbi_taxonomy synonym: "Boston marrow" EXACT common_name [] synonym: "Cucurbita maxima Duchesne" EXACT synonym [] synonym: "great pumpkin" EXACT common_name [] synonym: "winter squash" EXACT common_name [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:36630 name: Neosartorya fischeri namespace: ncbi_taxonomy synonym: "Aspergillus fischeri" EXACT synonym [] synonym: "Aspergillus fischerianus" EXACT anamorph [] synonym: "Neosartorya fischeri var. fischeri" EXACT synonym [] xref: SNOMEDCT:414831009 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:367830 name: Staphylococcus aureus subsp. aureus USA300 namespace: ncbi_taxonomy synonym: "Staphylococcus aureus subsp. aureus str. USA300" EXACT equivalent_name [] synonym: "Staphylococcus aureus subsp. aureus strain USA300" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3689 name: Populus namespace: ncbi_taxonomy synonym: "poplar" EXACT common_name [] synonym: "poplar trees" EXACT common_name [] synonym: "poplars" EXACT common_name [] synonym: "Populus L." EXACT synonym [] xref: MeSH:D032107 xref: SNOMEDCT:103585002 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3691 name: Populus nigra namespace: ncbi_taxonomy synonym: "black poplar" EXACT common_name [] synonym: "Lombardy poplar" EXACT common_name [] synonym: "Populas nigra" EXACT misspelling [] synonym: "Populus nigra L." EXACT synonym [] synonym: "Populus nigra var. italica" EXACT synonym [] synonym: "Populus nigras" EXACT misspelling [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3693 name: Populus tremuloides namespace: ncbi_taxonomy synonym: "Populus tremuloides Michx." EXACT synonym [] synonym: "quaking aspen" EXACT common_name [] xref: NCIt:C73970 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3694 name: Populus trichocarpa namespace: ncbi_taxonomy synonym: "black cottonwood" EXACT common_name [] synonym: "Populus balsamifera subsp. trichocarpa" EXACT genbank_synonym [] synonym: "Populus balsamifera subsp. trichocarpa (Torr. et A.Gray) Brayshaw" EXACT synonym [] synonym: "Populus trichocarpa Torr. & A.Gray" EXACT synonym [] synonym: "Populus trichocarpa Torr. et A.Gray" EXACT synonym [] synonym: "western balsam poplar" EXACT common_name [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3695 name: Populus trichocarpa x Populus deltoides namespace: ncbi_taxonomy synonym: "Populus balsamifera subsp. trichocarpa x Populus deltoides" EXACT synonym [] synonym: "Populus deltoides x Populus balsamifera subsp. trichocarpa" EXACT synonym [] synonym: "Populus deltoides x Populus trichocarpa" EXACT synonym [] synonym: "Populus x generosa" EXACT synonym [] synonym: "Populus x interamericana" EXACT synonym [] synonym: "Populus x interamericana ined." EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3696 name: Populus deltoides namespace: ncbi_taxonomy synonym: "Populus deltoides W.Bartram ex Marshall" EXACT synonym [] xref: SNOMEDCT:103587005 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3701 name: Arabidopsis namespace: ncbi_taxonomy synonym: "Cardaminopsis" EXACT synonym [] xref: MeSH:D017360 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:37011 name: Pan troglodytes troglodytes namespace: ncbi_taxonomy is_a: NCBITaxon:9598 ! Pan troglodytes property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3702 name: Arabidopsis thaliana namespace: ncbi_taxonomy synonym: "Arabidopsis thaliana (thale cress)" EXACT misspelling [] synonym: "Arbisopsis thaliana" EXACT misspelling [] synonym: "mouse-ear cress" EXACT common_name [] synonym: "thale cress" EXACT common_name [] synonym: "thale-cress" EXACT common_name [] is_a: NCBITaxon:3701 ! Arabidopsis relationship: part_of EFO:0000434 ! ecotype property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: NCBITaxon:3707 name: Brassica juncea namespace: ncbi_taxonomy synonym: "brown mustard" EXACT common_name [] synonym: "Indian mustard" EXACT common_name [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3708 name: Brassica napus namespace: ncbi_taxonomy synonym: "oilseed rape" EXACT common_name [] synonym: "rape" EXACT common_name [] synonym: "rapeseeds" EXACT common_name [] xref: ICD9:E960.1 xref: MeSH:D029688 xref: NCIt:C72266 xref: SNOMEDCT:112601000 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:37099 name: Isochrysis galbana namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3711 name: Brassica rapa namespace: ncbi_taxonomy synonym: "Brassica rapa L." EXACT synonym [] synonym: "field mustard" EXACT common_name [] xref: MeSH:D029741 xref: NCIt:C74475 xref: SNOMEDCT:86147000 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3712 name: Brassica oleracea namespace: ncbi_taxonomy synonym: "Brassica oleracea L." EXACT synonym [] xref: SNOMEDCT:1007001 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: NCBITaxon:3714 name: Brassica oleracea var. alboglabra synonym: "Brassica alboglabra" EXACT [] synonym: "Brassica oleracea var. alboglabra (L.H.Bailey) Musil" EXACT [] synonym: "Chinese kale" EXACT [] is_a: NCBITaxon:3712 ! Brassica oleracea [Term] id: NCBITaxon:3719 name: Capsella bursa-pastoris namespace: ncbi_taxonomy synonym: "Capsella bursapastoris" EXACT misspelling [] synonym: "shepherd's purse" EXACT common_name [] xref: NCIt:C72668 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3724 name: Matthiola incana namespace: ncbi_taxonomy synonym: "common stock" EXACT common_name [] synonym: "Matthiola incana (L.) R.Br." EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:37296 name: Human herpesvirus 8 namespace: ncbi_taxonomy synonym: "HHV8" EXACT acronym [] synonym: "Human herpesvirus 8 type P" EXACT synonym [] synonym: "Kaposi's sarcoma-associated herpes-like virus" EXACT synonym [] synonym: "Kaposi's sarcoma-associated herpesvirus" EXACT genbank_synonym [] synonym: "Kaposi's sarcoma-associated herpesvirus - Human herpesvirus 8" EXACT synonym [] synonym: "Kaposi's sarcoma-associated herpesvirus KSHV" EXACT misnomer [] synonym: "Kaposi's sarcoma-associated human herpes virus" EXACT misnomer [] synonym: "Karposi's sarcoma-associated herpes-like virus" EXACT misspelling [] synonym: "KSHV" EXACT acronym [] xref: NCIt:C14327 xref: SNOMEDCT:427605002 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:373101 name: Picea engelmannii x Picea glauca namespace: ncbi_taxonomy is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:373153 name: Streptococcus pneumoniae D39 namespace: ncbi_taxonomy synonym: "Streptococcus pneumoniae str. D39" EXACT equivalent_name [] synonym: "Streptococcus pneumoniae strain D39" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3747 name: Fragaria x ananassa namespace: ncbi_taxonomy synonym: "Fragaria ananassa" EXACT synonym [] synonym: "Fragaria chiloensis x Fragaria virginiana" EXACT synonym [] synonym: "Fragaria virginiana x Fragaria chiloensis" EXACT synonym [] synonym: "strawberry" EXACT common_name [] xref: NCIt:C66565 xref: SNOMEDCT:102261002 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:37495 name: Euphorbia pulcherrima namespace: ncbi_taxonomy synonym: "poinsettia" EXACT common_name [] xref: SNOMEDCT:44319005 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:375 name: Bradyrhizobium japonicum namespace: ncbi_taxonomy synonym: "Rhizobacterium japonicum" EXACT synonym [] synonym: "Rhizobium japonicum" EXACT synonym [] xref: SNOMEDCT:413705005 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3750 name: Malus x domestica namespace: ncbi_taxonomy synonym: "apple" EXACT common_name [] synonym: "apple tree" EXACT common_name [] synonym: "cultivated apple" EXACT common_name [] synonym: "Malus domestica" EXACT synonym [] synonym: "Malus pumila auct." EXACT synonym [] synonym: "Malus pumila var. domestica" EXACT synonym [] synonym: "Malus sylvestris var. domestica" EXACT synonym [] synonym: "Pyrus malus" EXACT synonym [] xref: NCIt:C71985 xref: SNOMEDCT:67505008 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:375033 name: Synechococcus phage S-IO9 namespace: ncbi_taxonomy is_a: NCBITaxon:10239 ! Virus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:375050 name: Synechococcus phage S-IO17 namespace: ncbi_taxonomy is_a: NCBITaxon:10239 ! Virus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:375052 name: Synechococcus phage S-IO21 namespace: ncbi_taxonomy is_a: NCBITaxon:10239 ! Virus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:375288 name: Parabacteroides namespace: ncbi_taxonomy xref: NCIt:C86633 xref: SNOMEDCT:447036003 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3760 name: Prunus persica namespace: ncbi_taxonomy synonym: "Amygdalus persica" EXACT synonym [] synonym: "peach" EXACT common_name [] synonym: "Persica vulgaris" EXACT synonym [] synonym: "Prunus persica var densa" EXACT misspelling [] xref: NCIt:C72027 xref: SNOMEDCT:75618005 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:37657 name: Silene latifolia namespace: ncbi_taxonomy is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:376619 name: Francisella tularensis subsp. holarctica LVS namespace: ncbi_taxonomy synonym: "Francisella tularensis subsp. holarctica str. LVS" EXACT equivalent_name [] synonym: "Francisella tularensis subsp. holarctica strain LVS" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3767 name: Pyrus pyrifolia namespace: ncbi_taxonomy synonym: "Pyrus serotina" EXACT synonym [] synonym: "sha li" EXACT common_name [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:37682 name: Aegilops tauschii namespace: ncbi_taxonomy synonym: "Aegilops squarrosa" EXACT synonym [] synonym: "Aegilops squarrosa auct." EXACT synonym [] synonym: "Aegilops squarrosa subsp. squarrosa" EXACT synonym [] synonym: "Aegilops tauschii Coss." EXACT synonym [] synonym: "Aegilops tauschii Cosson" EXACT synonym [] synonym: "Patropyrum tauschii" EXACT synonym [] synonym: "Patropyrum tauschii subsp. tauschii" EXACT synonym [] synonym: "Triticum tauschii" EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:37690 name: Citrus trifoliata namespace: ncbi_taxonomy synonym: "Citrus trifoliatus" EXACT synonym [] synonym: "hardy orange" EXACT common_name [] synonym: "Poncirus trifoliata" EXACT synonym [] synonym: "Poncirus trifoliate" EXACT misspelling [] synonym: "Poncirus trifoliatus" EXACT synonym [] synonym: "trifoliate orange" EXACT common_name [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:377270 name: Anopheles gambiae S namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:37733 name: Prunus necrotic ringspot virus namespace: ncbi_taxonomy synonym: "PNRSV" EXACT acronym [] synonym: "Prunus necrotic ringspot ilarvirus pnrsv" EXACT misnomer [] is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:37734 name: Enterococcus casseliflavus namespace: ncbi_taxonomy synonym: "Enterococcus flavescens" EXACT synonym [] synonym: "Streptococcus casseliflavus" EXACT synonym [] synonym: "Streptococcus faecium subsp. casseliflavus" EXACT synonym [] synonym: "Streptococcus faecium var. casseliflavus" EXACT synonym [] xref: NCIt:C86365 xref: SNOMEDCT:30949009 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:37762 name: Escherichia coli B namespace: ncbi_taxonomy synonym: "Escherichia coli (strain B)" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:378006 name: Arabidopsis arenosa x Arabidopsis thaliana namespace: ncbi_taxonomy is_a: NCBITaxon:3701 ! Arabidopsis property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:37862 name: Heterorhabditis bacteriophora namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:378830 name: Lake Victoria marburgvirus - Angola2005 namespace: ncbi_taxonomy is_a: NCBITaxon:10239 ! Virus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:379508 name: Lodderomyces elongisporus NRRL YB-4239 namespace: ncbi_taxonomy is_a: NCBITaxon:4890 ! Ascomycota property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:379731 name: Pseudomonas stutzeri A1501 namespace: ncbi_taxonomy synonym: "Pseudomonas stutzeri str. A1501" EXACT equivalent_name [] synonym: "Pseudomonas stutzeri strain A1501" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:380737 name: Drosophila sechellia x Drosophila simulans namespace: ncbi_taxonomy is_a: NCBITaxon:7215 ! Drosophila property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:380964 name: Influenza A virus (A/Texas/36/1991(H1N1)) namespace: ncbi_taxonomy synonym: "Influenza A virus (A/Texas/36/91(H1N1))" EXACT synonym [] is_a: NCBITaxon:10239 ! Virus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:381124 name: Zea mays subsp. mays namespace: ncbi_taxonomy synonym: "corn" EXACT common_name [] synonym: "Indian corn" EXACT common_name [] synonym: "maize" EXACT common_name [] synonym: "Zea mays subsp. amylacea" EXACT synonym [] synonym: "Zea mays subsp. ceratina" EXACT synonym [] synonym: "Zea mays subsp. everta" EXACT synonym [] synonym: "Zea mays subsp. indurata" EXACT synonym [] synonym: "Zea mays subsp. ramosa" EXACT synonym [] synonym: "Zea mays subsp. sacharata" EXACT synonym [] synonym: "Zea mays subsp. tunicata" EXACT synonym [] synonym: "Zea mays var. mays" EXACT synonym [] synonym: "Zea mays var. sacharata" EXACT synonym [] synonym: "Zea ramosa" EXACT synonym [] xref: NCIt:C34514 xref: NCIt:C72066 xref: SNOMEDCT:412357001 is_a: NCBITaxon:4577 ! Zea mays property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:381666 name: Ralstonia eutropha H16 namespace: ncbi_taxonomy synonym: "Alcaligenes eutropha H16" EXACT synonym [] synonym: "Cupriavidus necator ATCC 17699" EXACT synonym [] synonym: "Cupriavidus necator H16" EXACT synonym [] synonym: "Ralstonia eutropha ATCC 17699" EXACT synonym [] synonym: "Ralstonia eutropha str. H16" EXACT equivalent_name [] synonym: "Ralstonia eutropha strain H16" EXACT equivalent_name [] synonym: "Wautersia eutropha H16" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3818 name: Arachis hypogaea namespace: ncbi_taxonomy synonym: "Arachis hypogea" EXACT misspelling [] synonym: "goober" EXACT common_name [] synonym: "ground-nut" EXACT common_name [] synonym: "peanut" EXACT common_name [] xref: MeSH:D010367 xref: NCIt:C72071 xref: SNOMEDCT:75413007 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:382 name: Sinorhizobium meliloti namespace: ncbi_taxonomy synonym: "Ensifer meliloti" EXACT synonym [] synonym: "Rhizobium meliloti" EXACT genbank_synonym [] xref: MeSH:D016962 xref: SNOMEDCT:434206006 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:382539 name: Strelkovimermis namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:38289 name: Corynebacterium jeikeium namespace: ncbi_taxonomy synonym: "CDC coryneform group JK" EXACT synonym [] synonym: "Corynebacterium jeikeium Jackman et al. 1988" EXACT synonym [] xref: NCIt:C76307 xref: SNOMEDCT:63410006 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:38323 name: Bartonella henselae namespace: ncbi_taxonomy synonym: "Bartonella henselae (Regnery et al. 1992) Brenner et al. 1993" EXACT synonym [] synonym: "Rochalimaea henselae" EXACT synonym [] synonym: "Rochalimaea henselae Regnery et al. 1992" EXACT synonym [] xref: MeSH:D018416 xref: NCIt:C86186 xref: SNOMEDCT:103510000 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:383407 name: Xanthomonas oryzae pv. oryzicola BLS256 namespace: ncbi_taxonomy synonym: "Xanthomonas oryzae pv. oryzicola str. BLS256" EXACT equivalent_name [] synonym: "Xanthomonas oryzae pv. oryzicola strain BLS256" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:384 name: Rhizobium leguminosarum namespace: ncbi_taxonomy synonym: "Bacillus francki" EXACT synonym [] synonym: "Phytomyxa leguminosarum" EXACT synonym [] synonym: "Rhizobacterium leguminosarum" EXACT synonym [] synonym: "Rhizobium trifoli" EXACT synonym [] synonym: "Rhizobium trifolii" EXACT synonym [] synonym: "Schinzia leguminosarum" EXACT synonym [] xref: MeSH:D016961 xref: SNOMEDCT:415316003 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3847 name: Glycine max namespace: ncbi_taxonomy synonym: "Glycine max; cv. Wye" EXACT misspelling [] synonym: "soybean" EXACT common_name [] synonym: "soybeans" EXACT common_name [] xref: MeSH:D013025 xref: NCIt:C72010 xref: SNOMEDCT:76068006 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3848 name: Glycine soja namespace: ncbi_taxonomy synonym: "wild soybean" EXACT common_name [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:38588 name: Syntrichia ruralis namespace: ncbi_taxonomy synonym: "Barbula ruralis" EXACT synonym [] synonym: "Barbula ruralis Hedw." EXACT synonym [] synonym: "Syntrichia ruralis (Hedw.) F.Weber & D.Mohr" EXACT synonym [] synonym: "Tortula ruralis" EXACT synonym [] synonym: "Tortula ruralis (Hedw.) P. Gaertn. et al." EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:386585 name: Escherichia coli O157:H7 str. Sakai namespace: ncbi_taxonomy synonym: "Escherichia coli O157:H7 strain Sakai" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:38727 name: Panicum virgatum namespace: ncbi_taxonomy synonym: "switchgrass" EXACT common_name [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:38766 name: Lagos bat virus namespace: ncbi_taxonomy xref: SNOMEDCT:32052006 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:38767 name: Duvenhage virus namespace: ncbi_taxonomy xref: SNOMEDCT:72296007 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:38785 name: Arabidopsis arenosa namespace: ncbi_taxonomy synonym: "Arabis arenosa" EXACT synonym [] synonym: "Cardaminopsis arenosa" EXACT synonym [] is_a: NCBITaxon:3701 ! Arabidopsis property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3879 name: Medicago sativa namespace: ncbi_taxonomy synonym: "alfalfa" EXACT common_name [] synonym: "lucerne" EXACT common_name [] synonym: "Medicago sativa subsp. sativa" EXACT synonym [] xref: MeSH:D000455 xref: NCIt:C72038 xref: SNOMEDCT:18424005 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3880 name: Medicago truncatula namespace: ncbi_taxonomy synonym: "barrel medic" EXACT common_name [] xref: MeSH:D046913 xref: SNOMEDCT:38311000 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:38817 name: Gephyrocapsa oceanica namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3885 name: Phaseolus vulgaris namespace: ncbi_taxonomy synonym: "French bean" EXACT common_name [] synonym: "kidney bean" EXACT common_name [] synonym: "string bean" EXACT common_name [] xref: NCIt:C72543 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3886 name: Phaseolus coccineus namespace: ncbi_taxonomy synonym: "Phaseolus multiflorus" EXACT synonym [] synonym: "scarlet runner bean" EXACT common_name [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3888 name: Pisum sativum namespace: ncbi_taxonomy synonym: "garden pea" EXACT common_name [] synonym: "pea" EXACT common_name [] synonym: "peas" EXACT common_name [] synonym: "Pisum sativum L." EXACT synonym [] xref: MeSH:D018532 xref: NCIt:C72056 xref: SNOMEDCT:260184002 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:388919 name: Streptococcus sanguinis SK36 namespace: ncbi_taxonomy synonym: "Streptococcus sanguinis str. SK36" EXACT equivalent_name [] synonym: "Streptococcus sanguinis strain SK36" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3899 name: Trifolium repens namespace: ncbi_taxonomy synonym: "creeping white clover" EXACT common_name [] synonym: "Trifolium repens L." EXACT synonym [] synonym: "white clover" EXACT common_name [] xref: SNOMEDCT:13182002 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:39099 name: Pantherophis obsoletus namespace: ncbi_taxonomy synonym: "Eastern rat snake" EXACT common_name [] synonym: "Elaphe obsoleta" EXACT synonym [] synonym: "rat snake" EXACT common_name [] xref: SNOMEDCT:303256005 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3912 name: Vicia narbonensis namespace: ncbi_taxonomy is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:391290 name: Geobacillus sp. E263 namespace: ncbi_taxonomy is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:391295 name: Streptococcus suis 05ZYH33 namespace: ncbi_taxonomy synonym: "Streptococcus suis str. 05ZYH33" EXACT equivalent_name [] synonym: "Streptococcus suis strain 05ZYH33" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:39152 name: Methanococcus maripaludis namespace: ncbi_taxonomy synonym: "Methanococcus deltae" EXACT synonym [] xref: SNOMEDCT:434400002 is_a: NCBITaxon:2157 ! Archaea property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3917 name: Vigna unguiculata namespace: ncbi_taxonomy synonym: "cowpea" EXACT common_name [] synonym: "Phaseolus unguiculatus" EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3920 name: Vigna unguiculata subsp. unguiculata namespace: ncbi_taxonomy synonym: "cowpea" EXACT common_name [] synonym: "Vigna sinensis" EXACT synonym [] synonym: "Vigna unguiculata subsp. unguiculata (Unguiculata Group)" EXACT synonym [] synonym: "Vigna unguiculata subsp. unguiculata Unguiculata Group" EXACT synonym [] synonym: "Vigna unguiculata Unguiculata Group" EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:392499 name: Sphingomonas wittichii RW1 namespace: ncbi_taxonomy synonym: "Sphingomonas sp. RW1" EXACT synonym [] synonym: "Sphingomonas wittichii DSM 6014" EXACT synonym [] synonym: "Sphingomonas wittichii str. RW1" EXACT equivalent_name [] synonym: "Sphingomonas wittichii strain RW1" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:39291 name: Athelia rolfsii namespace: ncbi_taxonomy synonym: "Athelia rolfsii (Curzi) C.C.Tu et Kimbr." EXACT synonym [] synonym: "Corticium rolfsii" EXACT synonym [] synonym: "Corticium rolfsii Curzi" EXACT synonym [] synonym: "Sclerotium rolfsii" EXACT anamorph [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:393119 name: Listeria monocytogenes FSL J1-208 namespace: ncbi_taxonomy synonym: "Listeria monocytogenes str. FSL J1-208" EXACT equivalent_name [] synonym: "Listeria monocytogenes strain FSL J1-208" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:393121 name: Listeria monocytogenes FSL J2-071 namespace: ncbi_taxonomy synonym: "Listeria monocytogenes str. FSL J2-071" EXACT equivalent_name [] synonym: "Listeria monocytogenes strain FSL J2-071" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:393130 name: Listeria monocytogenes J0161 namespace: ncbi_taxonomy synonym: "Listeria monocytogenes str. J0161" EXACT equivalent_name [] synonym: "Listeria monocytogenes strain J0161" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:393133 name: Listeria monocytogenes 10403S namespace: ncbi_taxonomy synonym: "Listeria monocytogenes str. 10403S" EXACT equivalent_name [] synonym: "Listeria monocytogenes strain 10403S" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:39416 name: Tuber melanosporum namespace: ncbi_taxonomy synonym: "black truffle" EXACT common_name [] synonym: "French truffle" EXACT common_name [] synonym: "Perigord truffle" EXACT common_name [] is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:39442 name: Mus musculus musculus namespace: ncbi_taxonomy synonym: "eastern European house mouse" EXACT common_name [] synonym: "Mus musculus hortulanus" EXACT synonym [] is_a: EFO:0003013 ! Mus musculus subspecies property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: NCBITaxon:39491 name: Eubacterium rectale namespace: ncbi_taxonomy synonym: "'Roseburia rectale'" EXACT synonym [] synonym: "[Eubacterium] rectale" EXACT equivalent_name [] synonym: "Bacteroides rectalis" EXACT synonym [] synonym: "Pseudobacterium rectale" EXACT synonym [] synonym: "Roseburia rectale" EXACT synonym [] xref: NCIt:C86388 xref: SNOMEDCT:69189003 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:39758 name: Mayetiola destructor namespace: ncbi_taxonomy synonym: "Hessian fly" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3983 name: Manihot esculenta namespace: ncbi_taxonomy synonym: "cassava" EXACT common_name [] synonym: "Manihot esculenta Crantz" EXACT synonym [] synonym: "Manihot esculenta0" EXACT misspelling [] synonym: "Manihot utilissima" EXACT synonym [] synonym: "manioc" EXACT common_name [] synonym: "tapioca" EXACT common_name [] synonym: "yuca" EXACT common_name [] xref: SNOMEDCT:14982007 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:398580 name: Dinoroseobacter shibae DFL 12 namespace: ncbi_taxonomy synonym: "Dinoroseobacter shibae str. DFL 12" EXACT equivalent_name [] synonym: "Dinoroseobacter shibae strain DFL 12" EXACT equivalent_name [] synonym: "Jannaschia sp. DFL-12" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3988 name: Ricinus communis namespace: ncbi_taxonomy synonym: "castor bean" EXACT common_name [] synonym: "Ricimus communis" EXACT misspelling [] synonym: "Ricinis communis" EXACT misspelling [] synonym: "Ricinus communis L." EXACT synonym [] synonym: "Ricinus comunis" EXACT misspelling [] synonym: "Ricinus sanguineus" EXACT synonym [] synonym: "Ricinus sanguineus hort. ex Groenl." EXACT synonym [] xref: MeSH:D002367 xref: NCIt:C72424 xref: SNOMEDCT:35121001 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:3993 name: Euphorbia esula namespace: ncbi_taxonomy synonym: "leafy spurge" EXACT common_name [] synonym: "wolf's milk" EXACT common_name [] xref: SNOMEDCT:30482000 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:39946 name: Oryza sativa Indica Group namespace: ncbi_taxonomy synonym: "Indian rice" EXACT common_name [] synonym: "Oryza sativa (indica cultivar-group)" EXACT synonym [] synonym: "Oryza sativa (indica group)" EXACT synonym [] synonym: "Oryza sativa indica" EXACT misnomer [] synonym: "Oryza sativa subsp. indica" EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:39947 name: Oryza sativa Japonica Group namespace: ncbi_taxonomy synonym: "Japanese rice" EXACT common_name [] synonym: "Oryza sativa (japonica culticar-group)" EXACT misspelling [] synonym: "Oryza sativa (japonica cultivar-group)" EXACT synonym [] synonym: "Oryza sativa japonica" EXACT misnomer [] synonym: "Oryza sativa subsp. japonica" EXACT misnomer [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:399726 name: Thermoanaerobacter sp. X514 namespace: ncbi_taxonomy synonym: "Thermoanaerobacter ethanolicus X514" EXACT misnomer [] is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:39984 name: Bruguiera gymnorhiza namespace: ncbi_taxonomy synonym: "Bruguiera gymnorhiza (L.) Savigny" EXACT synonym [] synonym: "Bruguiera gymnorrhiza" EXACT synonym [] synonym: "Bruguiera gymnorrhizza" EXACT misspelling [] synonym: "Burma mangrove" EXACT common_name [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4006 name: Linum usitatissimum namespace: ncbi_taxonomy synonym: "flax" EXACT common_name [] synonym: "Linum usitatissimum L." EXACT synonym [] xref: MeSH:D019597 xref: SNOMEDCT:41685004 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:400682 name: Amphimedon queenslandica namespace: ncbi_taxonomy synonym: "Reniera sp. JGI-2005" EXACT misnomer [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:40127 name: Neurospora tetrasperma namespace: ncbi_taxonomy is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:40199 name: Fusarium avenaceum namespace: ncbi_taxonomy comment: Entry Merged. Taxid 502741 was merged into taxid 40199 on January 8, 2013. synonym: "anamorph of Gibberella avenacea" EXACT synonym [] is_a: NCBITaxon:4890 ! Ascomycota property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:40296 name: Penicillium italicum namespace: ncbi_taxonomy is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:40324 name: Stenotrophomonas maltophilia namespace: ncbi_taxonomy synonym: "Pseudomonas beteli" EXACT synonym [] synonym: "Pseudomonas betle" EXACT synonym [] synonym: "Pseudomonas maltiphilia" EXACT synonym [] synonym: "Pseudomonas maltophila" EXACT misspelling [] synonym: "Pseudomonas maltophilia" EXACT synonym [] synonym: "Stenotrophomonas africae" EXACT misspelling [] synonym: "Stenotrophomonas africana" EXACT synonym [] synonym: "Stenotrophomonas maltophila" EXACT misspelling [] synonym: "Xanthomonas maltiphilia" EXACT synonym [] synonym: "Xanthomonas maltophilia" EXACT synonym [] xref: MeSH:D020615 xref: NCIt:C76377 xref: SNOMEDCT:113697002 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:40370 name: Drosophila montana namespace: ncbi_taxonomy is_a: NCBITaxon:7215 ! Drosophila property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:40410 name: Cryptococcus neoformans var. neoformans namespace: ncbi_taxonomy synonym: "Cryptococcus neoformans serotype D" EXACT synonym [] synonym: "Filobasidiella neoformans var. neoformans" EXACT genbank_synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:varietas property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4054 name: Panax ginseng namespace: ncbi_taxonomy synonym: "Chinese ginseng" EXACT common_name [] synonym: "ginseng" EXACT common_name [] synonym: "hong shen" EXACT common_name [] synonym: "insam" EXACT common_name [] synonym: "Korean ginseng" EXACT common_name [] synonym: "ninjin" EXACT common_name [] synonym: "ren seng" EXACT common_name [] xref: NCIt:C91401 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:405531 name: Bacillus cereus G9842 namespace: ncbi_taxonomy synonym: "Bacillus cereus str. G9842" EXACT equivalent_name [] synonym: "Bacillus cereus strain G9842" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:405566 name: Lactobacillus helveticus DPC 4571 namespace: ncbi_taxonomy synonym: "Lactobacillus helveticus DPC4571" EXACT misspelling [] synonym: "Lactobacillus helveticus str. DPC 4571" EXACT equivalent_name [] synonym: "Lactobacillus helveticus strain DPC 4571" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:40559 name: Botrytis cinerea def: "Botrytis cinerea (teleomorph, Botryotinia fuckeliana) is an airborne plant pathogen with a necrotrophic lifestyle attacking over 200 crop hosts worldwide." [] xref: PMID:20507522 is_a: NCBITaxon:4890 ! Ascomycota property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:40686 name: Salix viminalis namespace: ncbi_taxonomy synonym: "basket willow" EXACT common_name [] synonym: "common osier" EXACT common_name [] synonym: "osier" EXACT common_name [] synonym: "Salix viminalis L." EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4072 name: Capsicum annuum namespace: ncbi_taxonomy synonym: "Capsicum annuum L." EXACT synonym [] synonym: "Capsicum annuum var. conoide" EXACT synonym [] synonym: "Capsicum annuum var. conoides" EXACT misspelling [] synonym: "Capsicum capsicum" EXACT misnomer [] synonym: "Capsicum conoide" EXACT synonym [] synonym: "Capsicum conoides" EXACT misspelling [] xref: SNOMEDCT:103592007 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:408 name: Methylobacterium extorquens namespace: ncbi_taxonomy synonym: "Bacillus extorquens" EXACT synonym [] synonym: "Flavobacterium extorquens" EXACT synonym [] synonym: "Methylobacterium dichloromethanicum" EXACT synonym [] synonym: "Methylobacterium diclorometanicum" EXACT misspelling [] synonym: "Protomonas extorquens" EXACT synonym [] synonym: "Pseudomonas extorquens" EXACT synonym [] synonym: "Vibrio extorquens" EXACT synonym [] xref: MeSH:D020601 xref: SNOMEDCT:74005008 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4081 name: Solanum lycopersicum namespace: ncbi_taxonomy synonym: "Lycopersicon esculentum" EXACT genbank_synonym [] synonym: "Lycopersicon esculentum Mill." EXACT synonym [] synonym: "Lycopersicon esculentum var. esculentum" EXACT synonym [] synonym: "Lycopersicon lycopersicum" EXACT misnomer [] synonym: "Lycopersicum esculentum" EXACT misspelling [] synonym: "Solanum esculentum" EXACT synonym [] synonym: "Solanum esculentum Dunal" EXACT synonym [] synonym: "Solanum lycopersicon" EXACT misspelling [] synonym: "Solanum lycopersicum L." EXACT synonym [] synonym: "tomato" EXACT common_name [] xref: MeSH:D018551 xref: NCIt:C72019 xref: SNOMEDCT:55242003 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:408170 name: human gut metagenome namespace: ncbi_taxonomy synonym: "human gut microbiota" EXACT synonym [] is_a: OBI:0100026 ! organism property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:408172 name: marine metagenome namespace: ncbi_taxonomy synonym: "ocean metagenome" EXACT synonym [] is_a: OBI:0100026 ! organism property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4084 name: Solanum pimpinellifolium namespace: ncbi_taxonomy synonym: "currant tomato" EXACT common_name [] synonym: "Lycopersicon pimpinellifolium" EXACT genbank_synonym [] synonym: "Lycopersicon pimpinellifolium (L.) Mill." EXACT synonym [] synonym: "Solanum pimpinellifolium L." EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4097 name: Nicotiana tabacum namespace: ncbi_taxonomy synonym: "American tobacco" EXACT common_name [] synonym: "common tobacco" EXACT common_name [] synonym: "Nicotania tabacum" EXACT misspelling [] synonym: "Nicotiana tabacum var. Samsun" EXACT misspelling [] synonym: "tobacco" EXACT common_name [] xref: MeSH:D014026 xref: NCIt:C891 xref: SNOMEDCT:57264008 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:40993 name: Aspergillus carbonarius namespace: ncbi_taxonomy is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4100 name: Nicotiana benthamiana namespace: ncbi_taxonomy synonym: "Nicotiana benthamania" EXACT misspelling [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4102 name: Petunia x hybrida namespace: ncbi_taxonomy synonym: "garden petunia" EXACT common_name [] synonym: "Petunia axillaris X Petunia integrifolia" EXACT synonym [] synonym: "Petunia hybrida" EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:410289 name: Mycobacterium bovis BCG str. Pasteur 1173P2 namespace: ncbi_taxonomy synonym: "Mycobacterium bovis BCG Pasteur 1173P2" EXACT equivalent_name [] synonym: "Mycobacterium bovis BCG strain Pasteur 1173P2" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:41048 name: Neosartorya fennelliae namespace: ncbi_taxonomy synonym: "Aspergillus fennelliae" EXACT anamorph [] xref: SNOMEDCT:414830005 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:410658 name: soil metagenome namespace: ncbi_taxonomy is_a: OBI:0100026 ! organism property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4108 name: Solanum chacoense namespace: ncbi_taxonomy synonym: "Chaco potato" EXACT common_name [] synonym: "Solanum chacoense Bitter" EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4113 name: Solanum tuberosum namespace: ncbi_taxonomy synonym: "potato" EXACT common_name [] synonym: "potatoes" EXACT common_name [] synonym: "Solanum tuberosum subsp. tuberosum" EXACT synonym [] xref: MeSH:D011198 xref: NCIt:C72045 xref: SNOMEDCT:1590002 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4120 name: Ipomoea batatas namespace: ncbi_taxonomy synonym: "batate" EXACT common_name [] synonym: "Ipomoea babatas" EXACT misspelling [] synonym: "Ipomoea batata" EXACT misspelling [] synonym: "Ipomoea batatas (L.) Lam." EXACT synonym [] synonym: "Ipomoea batatas var. edulis" EXACT synonym [] synonym: "Ipomoea tiliacea auct. non (Willd.) Choisy" EXACT synonym [] synonym: "sweet potato" EXACT common_name [] xref: MeSH:D027723 xref: NCIt:C72015 xref: SNOMEDCT:43065007 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:412675 name: Cucumis melo subsp. melo namespace: ncbi_taxonomy is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:413496 name: Cronobacter namespace: ncbi_taxonomy xref: MeSH:D059126 xref: NCIt:C85974 xref: SNOMEDCT:444664004 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:413497 name: Cronobacter dublinensis namespace: ncbi_taxonomy xref: SNOMEDCT:445559002 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:413501 name: Cronobacter muytjensii namespace: ncbi_taxonomy xref: SNOMEDCT:445561006 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:413502 name: Cronobacter turicensis namespace: ncbi_taxonomy xref: SNOMEDCT:445639005 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:413888 name: Caldicellulosiruptor hydrothermalis namespace: ncbi_taxonomy is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:413997 name: Escherichia coli B str. REL606 namespace: ncbi_taxonomy synonym: "Escherichia coli B (REL606 strain)" EXACT equivalent_name [] synonym: "Escherichia coli B str. Bc251" EXACT synonym [] synonym: "Escherichia coli B strain REL606" EXACT equivalent_name [] synonym: "Escherichia coli str. B substr. REL606" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:413999 name: Clostridium botulinum A str. ATCC 3502 namespace: ncbi_taxonomy synonym: "Clostridium botulinum A strain ATCC 3502" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:41411 name: Eurotium chevalieri namespace: ncbi_taxonomy is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:414717 name: Pachycladon enysii namespace: ncbi_taxonomy synonym: "Pachycladon enysii (Cheeseman ex Kirk) Heenan & A.D.Mitch." EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:41529 name: Salmonella enterica subsp. enterica serovar Typhisuis namespace: ncbi_taxonomy synonym: "Salmonella enterica serovar Typhisuis" EXACT synonym [] synonym: "Salmonella typhisuis" EXACT synonym [] xref: SNOMEDCT:52730003 is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4155 name: Mimulus guttatus namespace: ncbi_taxonomy synonym: "common monkey flower" EXACT common_name [] synonym: "spotted monkey flower" EXACT common_name [] synonym: "yellow monkey flower" EXACT common_name [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:416870 name: Lactococcus lactis subsp. cremoris MG1363 namespace: ncbi_taxonomy synonym: "Lactococcus lactis subsp. cremoris str. MG1363" EXACT equivalent_name [] synonym: "Lactococcus lactis subsp. cremoris strain MG1363" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:41759 name: Aspergillus multicolor namespace: ncbi_taxonomy is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:420247 name: Methanobrevibacter smithii ATCC 35061 namespace: ncbi_taxonomy synonym: "Methanobrevibacter smithii DSM 861" EXACT synonym [] synonym: "Methanobrevibacter smithii PS" EXACT synonym [] synonym: "Methanobrevibacter smithii str. ATCC 35061" EXACT equivalent_name [] synonym: "Methanobrevibacter smithii strain ATCC 35061" EXACT equivalent_name [] is_a: NCBITaxon:2157 ! Archaea property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:42156 name: Litomosoides sigmodontis namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4222 name: Carthamus tinctorius namespace: ncbi_taxonomy synonym: "Carthamnus tinctorius" EXACT misspelling [] synonym: "safflower" EXACT common_name [] xref: MeSH:D031187 xref: NCIt:C72276 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4232 name: Helianthus annuus namespace: ncbi_taxonomy synonym: "common sunflower" EXACT common_name [] synonym: "Helianthus annus" EXACT misspelling [] synonym: "Helianthus annuus8" EXACT misspelling [] xref: NCIt:C72331 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4236 name: Lactuca sativa namespace: ncbi_taxonomy synonym: "cultivated lettuce" EXACT common_name [] synonym: "garden lettuce" EXACT common_name [] synonym: "Lativa satuca" EXACT misspelling [] xref: SNOMEDCT:21509009 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:42374 name: Candida dubliniensis namespace: ncbi_taxonomy xref: NCIt:C114255 xref: SNOMEDCT:115952006 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:42413 name: Peromyscus polionotus namespace: ncbi_taxonomy synonym: "oldfield mouse" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:426 name: Methylosinus trichosporium namespace: ncbi_taxonomy xref: MeSH:D020602 xref: SNOMEDCT:433421007 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:426114 name: Thiomonas sp. 3As namespace: ncbi_taxonomy is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:426430 name: Staphylococcus aureus subsp. aureus str. Newman namespace: ncbi_taxonomy synonym: "Staphylococcus aureus subsp. aureus Newman" EXACT misspelling [] synonym: "Staphylococcus aureus subsp. aureus strain Newman" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:42677 name: Fusarium subglutinans namespace: ncbi_taxonomy synonym: "Fusarium moniliforme var. subglutinans" EXACT synonym [] is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:42858 name: Staphylococcus lentus namespace: ncbi_taxonomy synonym: "Staphylococcus lentus (Kloos et al. 1976) Schleifer et al. 1983" EXACT synonym [] synonym: "Staphylococcus sciuri subsp. lentus" EXACT synonym [] synonym: "Staphylococcus sciuri subsp. lentus Kloos et al. 1976 (Approved Lists 1980)" EXACT synonym [] xref: NCIt:C86766 xref: SNOMEDCT:40253001 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:430498 name: Dactylellina haptotyla namespace: ncbi_taxonomy synonym: "Arthrobotrys haptotyla" EXACT synonym [] synonym: "Dactylaria haptotyla" EXACT synonym [] synonym: "Monacrosporium haptotylum" EXACT genbank_synonym [] is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:431241 name: Trichoderma reesei QM6a namespace: ncbi_taxonomy is_a: NCBITaxon:4890 ! Ascomycota property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:431317 name: Triticum mosaic virus def: "Triticum mosaic virus is a wheat pathogen that belongs to the Potyviridae family of positive-strand RNA viruses." [] is_a: NCBITaxon:10239 ! Virus property_value: definition:citation "Seifers DL, Martin TJ, Harvey TL, Fellers JP, Stack JP, Ryba-White M, Haber S, Krokhin O, Spicer V, Lovat N, Yamchuk A, Standing KG. 2008. Triticum mosaic virus: A new virus isolated from wheat in Kansas. Plant Dis. 92:808-817." xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:43179 name: Spermophilus tridecemlineatus namespace: ncbi_taxonomy synonym: "Citellus tridecemlineatus" EXACT synonym [] synonym: "Ictidomys tridecemlineatus" EXACT synonym [] synonym: "thirteen-lined ground squirrel" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:431947 name: Porphyromonas gingivalis ATCC 33277 namespace: ncbi_taxonomy synonym: "Porphyromonas gingivalis str. ATCC 33277" EXACT equivalent_name [] synonym: "Porphyromonas gingivalis strain ATCC 33277" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:43256 name: Harpagifer antarcticus namespace: ncbi_taxonomy synonym: "Antarctic spiny plunderfish" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:43335 name: Populus alba namespace: ncbi_taxonomy synonym: "abele" EXACT common_name [] synonym: "gin-doro" EXACT common_name [] synonym: "Populus alba L." EXACT synonym [] synonym: "silver-leaf poplar" EXACT common_name [] synonym: "white poplar" EXACT common_name [] synonym: "xin bai yang" EXACT common_name [] xref: SNOMEDCT:103586001 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:434270 name: Actinobacillus pleuropneumoniae serovar 3 namespace: ncbi_taxonomy is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:43490 name: Gyps africanus namespace: ncbi_taxonomy synonym: "white-backed vulture" EXACT common_name [] xref: SNOMEDCT:69019009 is_a: NCBITaxon:8965 ! Gyps property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:435 name: Acetobacter aceti namespace: ncbi_taxonomy synonym: "Acetimonas aceti" EXACT synonym [] synonym: "Acetobacter (subgen. Acetobacter) aceti" EXACT synonym [] synonym: "Acetobacter aceti aceti" EXACT synonym [] synonym: "Acetobacter aceti orleanensis" EXACT synonym [] synonym: "Acetobacter aceti subsp. aceti" EXACT synonym [] synonym: "Acetobacter aceti var. muciparum" EXACT synonym [] synonym: "Acetobacter ketogenum" EXACT synonym [] synonym: "Acetobacter lafarianum" EXACT synonym [] synonym: "Bacillus aceticus" EXACT synonym [] synonym: "Bacteriopsis aceti" EXACT synonym [] synonym: "Bacterium aceti" EXACT synonym [] synonym: "Bacterium acetigenoidum" EXACT synonym [] synonym: "Bacterium hansenianum" EXACT synonym [] synonym: "Micrococcus aceti" EXACT synonym [] synonym: "Mycoderma aceti souches non visqueuses (membraneuses)" EXACT synonym [] xref: SNOMEDCT:396950003 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:43687 name: Metallosphaera sedula namespace: ncbi_taxonomy xref: SNOMEDCT:433896002 is_a: NCBITaxon:2157 ! Archaea property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:43696 name: Chara corallina namespace: ncbi_taxonomy is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:439688 name: Sedum alfredii namespace: ncbi_taxonomy synonym: "Sedum alfredii Hance" EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:43988 name: Cyanothece namespace: ncbi_taxonomy xref: MeSH:D046889 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:43989 name: Cyanothece sp. ATCC 51142 namespace: ncbi_taxonomy synonym: "Cyanothece (strain ATCC 51142)" EXACT misspelling [] synonym: "Cyanothece 51142" EXACT misspelling [] synonym: "Cyanothece ATCC51142" EXACT misspelling [] synonym: "Cyanothece sp. BH68" EXACT synonym [] synonym: "Cyanothece sp. BH68K" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:44001 name: Caldicellulosiruptor saccharolyticus namespace: ncbi_taxonomy synonym: "Caldocellum saccharolyticum" EXACT misspelling [] xref: SNOMEDCT:433531003 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:44056 name: Aureococcus anophagefferens namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:44249 name: Paenibacillus namespace: ncbi_taxonomy synonym: "Bacillus polymyxa group" EXACT synonym [] synonym: "rRNA group 3 bacilli" EXACT synonym [] xref: MeSH:D056507 xref: SNOMEDCT:114086007 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:44271 name: Leishmania chagasi namespace: ncbi_taxonomy synonym: "Leishmania (Leishmania) chagasi" EXACT synonym [] synonym: "Leishmania donovani chagasi" EXACT synonym [] synonym: "Leishmania infantum chagasi" EXACT synonym [] xref: SNOMEDCT:243656002 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:44294 name: Actinobacillus pleuropneumoniae serovar 5 namespace: ncbi_taxonomy synonym: "Actinobacillus pleuropneumoniae 5" EXACT synonym [] synonym: "Actinobacillus pleuropneumoniae serotype 5" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:44397 name: Melospiza melodia namespace: ncbi_taxonomy synonym: "song sparrow" EXACT common_name [] xref: SNOMEDCT:449509004 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:44477 name: Apis mellifera mellifera namespace: ncbi_taxonomy synonym: "Apis mellifera mellifera Linnaeus, 1758" EXACT synonym [] synonym: "German honeybee" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:446 name: Legionella pneumophila namespace: ncbi_taxonomy xref: MeSH:D016952 xref: NCIt:C86489 xref: SNOMEDCT:80897008 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:446304 name: Rhabditis remanei is_a: NCBITaxon:55887 ! Rhabditinae [Term] id: NCBITaxon:446639 name: Trichophyton longifusum namespace: ncbi_taxonomy is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:44689 name: Dictyostelium discoideum namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:447426 name: human oral metagenome namespace: ncbi_taxonomy is_a: OBI:0100026 ! organism property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:449216 name: Rickettsia prowazekii Rp22 namespace: ncbi_taxonomy synonym: "Rickettsia prowazekii str. Rp22" EXACT equivalent_name [] synonym: "Rickettsia prowazekii strain Rp22" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4498 name: Avena sativa namespace: ncbi_taxonomy synonym: "Avena sativa L." EXACT synonym [] synonym: "cultivated oat" EXACT common_name [] synonym: "oat" EXACT common_name [] xref: MeSH:D018554 xref: NCIt:C73963 xref: SNOMEDCT:9424004 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:450 name: Legionella longbeachae namespace: ncbi_taxonomy xref: MeSH:D044128 xref: NCIt:C86488 xref: SNOMEDCT:89605004 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4502 name: Bromus secalinus namespace: ncbi_taxonomy synonym: "Bromus mollis var. secalinus" EXACT synonym [] synonym: "Bromus secalinas" EXACT misspelling [] synonym: "Bromus secalinus L." EXACT synonym [] synonym: "cheat" EXACT common_name [] synonym: "chess" EXACT common_name [] synonym: "chess bromegrass" EXACT common_name [] synonym: "rye brome" EXACT common_name [] xref: NCIt:C72267 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4513 name: Hordeum vulgare namespace: ncbi_taxonomy synonym: "barley" EXACT common_name [] synonym: "Hordeum vulgare L." EXACT synonym [] synonym: "Horedum vulgare" EXACT misspelling [] xref: NCIt:C73935 xref: SNOMEDCT:20445003 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:45130 name: Cochliobolus sativus namespace: ncbi_taxonomy synonym: "Bipolaris sorokiniana" EXACT anamorph [] is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:45157 name: Cyanidioschyzon merolae namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:45218 name: Amapari virus namespace: ncbi_taxonomy synonym: "Amapari arenavirus" EXACT synonym [] synonym: "AMAV" EXACT acronym [] xref: SNOMEDCT:15006002 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:45219 name: Guanarito virus namespace: ncbi_taxonomy synonym: "GTOV" EXACT acronym [] synonym: "Guanarito arenavirus" EXACT synonym [] xref: SNOMEDCT:311506003 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4522 name: Lolium perenne namespace: ncbi_taxonomy synonym: "perennial ryegrass" EXACT common_name [] xref: NCIt:C72366 xref: SNOMEDCT:8033002 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:45249 name: Arabidopsis suecica namespace: ncbi_taxonomy synonym: "Arabidopsis suecica (Fries) Norrl." EXACT synonym [] synonym: "Arabis suecica" EXACT synonym [] synonym: "Arabis suecica Fries." EXACT synonym [] synonym: "Cardaminopsis suecica" EXACT synonym [] synonym: "Cardaminopsis suecica (Fries) Hiitonen" EXACT synonym [] synonym: "Hylandra suecica" EXACT synonym [] synonym: "Hylandra suecica A.Love" EXACT synonym [] is_a: NCBITaxon:3701 ! Arabidopsis property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:45264 name: Acropora millepora namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4528 name: Oryza longistaminata namespace: ncbi_taxonomy synonym: "long-staminate rice" EXACT common_name [] synonym: "Oryza longistaminata A.Chev. & Roehr." EXACT synonym [] synonym: "red rice" EXACT common_name [] xref: SNOMEDCT:226757003 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4529 name: Oryza rufipogon namespace: ncbi_taxonomy synonym: "common wild rice" EXACT common_name [] synonym: "red rice" EXACT common_name [] xref: SNOMEDCT:226757003 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4530 name: Oryza sativa namespace: ncbi_taxonomy synonym: "red rice" EXACT common_name [] synonym: "rice" EXACT common_name [] xref: MeSH:D012275 xref: SNOMEDCT:226757003 xref: SNOMEDCT:67324005 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:45351 name: Nematostella vectensis namespace: ncbi_taxonomy synonym: "Nematostella vectensis Stephenson, 1935" EXACT synonym [] synonym: "starlet sea anemone" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4536 name: Oryza nivara namespace: ncbi_taxonomy synonym: "Oryza nivara S.D.Sharma & Shastry" EXACT synonym [] synonym: "Oryza nivarra" EXACT misspelling [] synonym: "Oryza sativa f. spontanea" EXACT synonym [] synonym: "Oryza sativa f. spontanea Roshev. nom. illeg." EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4537 name: Oryza punctata def: "Oryza punctata is a grass in the rice genus Oryza, also known as red rice, related to cultivated rice Oryza sativa." [] xref: Wikipedia:Oryza_punctata is_a: NCBITaxon:33090 ! Viridiplantae property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:4543 name: Cenchrus americanus namespace: ncbi_taxonomy synonym: "bulrush millet" EXACT common_name [] synonym: "cattail millet" EXACT common_name [] synonym: "pearl millet" EXACT common_name [] synonym: "Pennisetum americanum" EXACT synonym [] synonym: "Pennisetum glaucum" EXACT synonym [] synonym: "Pennisetum typhoides" EXACT synonym [] synonym: "Pennisetum typhoideum" EXACT synonym [] synonym: "Pennistum glaucum" EXACT misspelling [] synonym: "Setaria glauca" EXACT synonym [] xref: SNOMEDCT:52992004 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:454631 name: Rhamphochromis sp. 'chilingali' namespace: ncbi_taxonomy synonym: "Rhamphochromis 'chilingali'" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4547 name: Saccharum officinarum namespace: ncbi_taxonomy synonym: "noble cane" EXACT common_name [] synonym: "sugarcane" EXACT common_name [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4555 name: Setaria italica namespace: ncbi_taxonomy synonym: "foxtail millet" EXACT common_name [] synonym: "Setaria italica (L.) P.Beauv." EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:455632 name: Streptomyces griseus subsp. griseus NBRC 13350 namespace: ncbi_taxonomy synonym: "Streptomyces griseus subsp. griseus IFO 13350" EXACT synonym [] synonym: "Streptomyces griseus subsp. griseus str. NBRC 13350" EXACT equivalent_name [] synonym: "Streptomyces griseus subsp. griseus strain NBRC 13350" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4558 name: Sorghum bicolor namespace: ncbi_taxonomy synonym: "broomcorn" EXACT common_name [] synonym: "milo" EXACT common_name [] synonym: "sorghum" EXACT common_name [] synonym: "Sorghum bicolor milo" EXACT misspelling [] synonym: "Sorghum saccharatum" EXACT synonym [] synonym: "Sorghum vulgare" EXACT synonym [] xref: MeSH:D045868 xref: SNOMEDCT:319213000 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:45596 name: Candida tenuis namespace: ncbi_taxonomy xref: SNOMEDCT:982172491000087106 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:45629 name: Desulfovibrio halophilus namespace: ncbi_taxonomy synonym: "Desulfovibrio halophilus Caumette et al. 1991" EXACT synonym [] xref: SNOMEDCT:431139001 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4565 name: Triticum aestivum namespace: ncbi_taxonomy synonym: "bread wheat" EXACT common_name [] synonym: "Canadian hard winter wheat" EXACT common_name [] synonym: "common wheat" EXACT common_name [] synonym: "Tricum aestivum" EXACT misspelling [] synonym: "Triticum aestivam" EXACT misspelling [] synonym: "Triticum aestivum subsp. aestivum" EXACT synonym [] synonym: "Triticum aestivum8" EXACT misspelling [] synonym: "Triticum vulgare" EXACT synonym [] synonym: "wheat" EXACT common_name [] xref: NCIt:C74546 xref: SNOMEDCT:65256004 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4567 name: Triticum durum namespace: ncbi_taxonomy synonym: "duri wheat" EXACT misspelling [] synonym: "durum wheat" EXACT common_name [] synonym: "Triticum durum ssp. durum" EXACT synonym [] synonym: "Triticum durum subsp. durum" EXACT synonym [] synonym: "Triticum rigidum conv. durum" EXACT synonym [] synonym: "Triticum rigidum ssp. durum" EXACT synonym [] synonym: "Triticum rigidum var. durum" EXACT synonym [] synonym: "Triticum turgidum subsp. durum" EXACT synonym [] xref: SNOMEDCT:443831000124100 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:456999 name: Rhizoctonia solani namespace: ncbi_taxonomy synonym: "Rhizoctonia praticola" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:45709 name: Sabia virus namespace: ncbi_taxonomy synonym: "Sabia arenavirus" EXACT synonym [] synonym: "Sabio virus" EXACT misspelling [] xref: SNOMEDCT:311508002 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4572 name: Triticum urartu namespace: ncbi_taxonomy def: "Triticum urartu, also known as red wild einkorn, is a grass species related to wheat, and native to western Asia. It is a diploid species whose genome is the A genome of the allopolyploid hexaploid bread wheat Triticum aestivum, which has genomes AABBDD." [] synonym: "red wild einkorn" EXACT [] xref: Wikipedia:Triticum_urartu is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank http://purl.obolibrary.org/obo/NCBITaxon_species xsd:string property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: NCBITaxon:4573 name: Aegilops speltoides def: "Aegilops speltoides is an edible plant in the Poaceae family native to Southeastern Europe and Western Asia, which is often used for animal feed, and it has grown in cultivated beds. This plant is an important natural source disease resistance in wheat, and it is known or likely to be susceptible to barley mild mosaic bymovirus." [] xref: Wikipedia:Aegilops_speltoides is_a: NCBITaxon:33090 ! Viridiplantae property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:4577 name: Zea mays namespace: ncbi_taxonomy synonym: "maize" EXACT common_name [] synonym: "Zea mays mays" EXACT misspelling [] synonym: "Zea mays var. japonica" EXACT synonym [] xref: MeSH:D003313 xref: SNOMEDCT:2911006 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4579 name: Zea mays subsp. mexicana def: "Zea mays subsp. mexicana is one of the two annual diploid species that represents teosinte." [] xref: PMID:16014364 is_a: NCBITaxon:4577 ! Zea mays property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:45954 name: Dreissena polymorpha namespace: ncbi_taxonomy synonym: "Dreissena polymorpha (Pallas, 1771)" EXACT synonym [] synonym: "zebra mussel" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4606 name: Festuca arundinacea namespace: ncbi_taxonomy synonym: "Festuca elatior" EXACT synonym [] synonym: "Lolium arundinaceum" EXACT synonym [] synonym: "Schedonorus arundinaceus" EXACT genbank_synonym [] synonym: "Schedonorus phoenix" EXACT synonym [] synonym: "tall fescue" EXACT common_name [] xref: SNOMEDCT:3122000 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:46244 name: Drosophila pseudoobscura bogotana namespace: ncbi_taxonomy synonym: "Drosophila bogotana" EXACT synonym [] is_a: NCBITaxon:7215 ! Drosophila property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4641 name: Musa acuminata namespace: ncbi_taxonomy synonym: "banana" EXACT common_name [] synonym: "dessert bananas" EXACT common_name [] synonym: "Musa AA Group" EXACT synonym [] synonym: "Musa accumunata" EXACT misspelling [] synonym: "Musa acuminata AA Group" EXACT synonym [] synonym: "Musa nana" EXACT synonym [] synonym: "sweet banana" EXACT common_name [] xref: NCIt:C71989 xref: SNOMEDCT:256307007 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:46472 name: Aspergillus versicolor namespace: ncbi_taxonomy xref: SNOMEDCT:48315007 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4679 name: Allium cepa namespace: ncbi_taxonomy synonym: "Allium cepa L." EXACT synonym [] synonym: "onion" EXACT common_name [] xref: NCIt:C72035 xref: SNOMEDCT:80397000 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:46838 name: Musa sp. namespace: ncbi_taxonomy is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4690 name: Lilium longiflorum namespace: ncbi_taxonomy synonym: "trumpet lily" EXACT common_name [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:469008 name: Escherichia coli BL21(DE3) namespace: ncbi_taxonomy synonym: "Escherichia coli str. BL21(DE3)" EXACT equivalent_name [] synonym: "Escherichia coli strain BL21(DE3)" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:470 name: Acinetobacter baumannii namespace: ncbi_taxonomy synonym: "Acinetobacter baumanii" EXACT misspelling [] synonym: "Acinetobacter baumanni" EXACT misspelling [] synonym: "Acinetobacter genomosp. 2" EXACT synonym [] synonym: "Acinetobacter genomospecies 2" EXACT synonym [] synonym: "Bacterium anitratum" EXACT synonym [] xref: MeSH:D040981 xref: SNOMEDCT:91288006 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:471876 name: Streptococcus pyogenes NZ131 namespace: ncbi_taxonomy synonym: "Streptococcus pyogenes str. NZ131" EXACT equivalent_name [] synonym: "Streptococcus pyogenes strain NZ131" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:47247 name: Lotus corniculatus namespace: ncbi_taxonomy xref: SNOMEDCT:21327008 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:473156 name: Oscheius dolichura is_a: NCBITaxon:55887 ! Rhabditinae [Term] id: NCBITaxon:474186 name: Enterococcus faecalis OG1RF namespace: ncbi_taxonomy synonym: "Enterococcus faecalis str. OG1RF" EXACT equivalent_name [] synonym: "Enterococcus faecalis strain OG1RF" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:47493 name: Lactobacillus panis namespace: ncbi_taxonomy synonym: "Lactobacillus panis Wiese et al. 1996" EXACT synonym [] xref: SNOMEDCT:113790008 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:47506 name: Human echovirus 18 namespace: ncbi_taxonomy synonym: "Echovirus 18" EXACT synonym [] synonym: "Echovirus type 18" EXACT synonym [] xref: SNOMEDCT:19319001 is_a: NCBITaxon:10239 ! Virus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4751 name: Fungi def: "Fungi are eukaryotic organisms that belong to their own kingdom, separate from the other eukaryotic life kingdoms of plants and animals. It includes unicellular microorganisms such as yeasts and molds, as well as multicellular fungi that produce familiar fruiting forms known as mushrooms." [] synonym: "fungi" EXACT [] synonym: "fungus" EXACT [] xref: Wikipedia:Fungus is_a: NCBITaxon:33154 ! Opisthokonta property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:476074 name: Onthophagus nigriventris namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4762 name: Oomycetes def: "Oomycetes form a diverse group of fungus-like eukaryotic microorganisms, also known as water molds, that include both saprophytes and pathogens of plants, insects, crustaceans, fish, vertebrate animals, and various microorganisms." [] is_a: NCBITaxon:33634 ! Stramenopiles property_value: definition:citation "Margulis, L., and K. V. Schwartz. 2000. Five kingdoms: an illustrated guide to the phyla of life on earth. W. H. Freeman and Co., New York, N.Y." xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:47664 name: Populus tremula x Populus tremuloides namespace: ncbi_taxonomy synonym: "Populus tremula x P. tremuloides" EXACT misspelling [] synonym: "Populus tremula x Poplulua tremuloides" EXACT misspelling [] synonym: "Populus tremula x Poplulus tremuloides" EXACT misspelling [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:47715 name: Lactobacillus rhamnosus namespace: ncbi_taxonomy synonym: "Lactobacillus casei rhamnosus" EXACT synonym [] synonym: "Lactobacillus casei subsp. rhamnosus" EXACT synonym [] xref: MeSH:D052201 xref: SNOMEDCT:113798001 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:47767 name: Agrotis segetum namespace: ncbi_taxonomy synonym: "turnip moth" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:47770 name: Lactobacillus crispatus namespace: ncbi_taxonomy synonym: "Eubacterium crispatum" EXACT synonym [] xref: SNOMEDCT:89237007 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:477815 name: Mus musculus musculus x M. m. domesticus namespace: ncbi_taxonomy is_a: NCBITaxon:10090 ! Mus musculus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:477955 name: Symplocarpus renifolius namespace: ncbi_taxonomy synonym: "Symplocarpus renifolius Schott ex N.N.Tzvelev" EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4787 name: Phytophthora infestans namespace: ncbi_taxonomy synonym: "potato late blight" EXACT misnomer [] synonym: "potato late blight agent" EXACT common_name [] synonym: "potato late blight fungus" EXACT common_name [] xref: MeSH:D055750 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:478749 name: Marvinbryantia formatexigens DSM 14469 namespace: ncbi_taxonomy synonym: "Bryantella formatexigens DSM 14469" EXACT synonym [] synonym: "Bryantella formatexigens I-52" EXACT synonym [] synonym: "Clostridium-like sp. I-52" EXACT synonym [] synonym: "Marvinbryantia formatexigens str. DSM 14469" EXACT equivalent_name [] synonym: "Marvinbryantia formatexigens strain DSM 14469" EXACT equivalent_name [] synonym: "Ruminococcus sp. I-52" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:47929 name: Macacine herpesvirus 3 namespace: ncbi_taxonomy synonym: "CeHV-8" EXACT acronym [] synonym: "Cercopithecine herpesvirus 8" EXACT synonym [] synonym: "Macacine herpesvirus 8" EXACT misnomer [] synonym: "Rhesus cytomegalovirus" EXACT common_name [] synonym: "Rhesus macaque cytomegalovirus" EXACT synonym [] synonym: "Rhesus monkey cytomegalovirus" EXACT synonym [] is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:480 name: Moraxella catarrhalis namespace: ncbi_taxonomy synonym: "Branhamella catarrhalis" EXACT synonym [] synonym: "Mikrokkokus catarrhalis" EXACT synonym [] synonym: "Moraxella catarralis" EXACT misspelling [] xref: NCIt:C76210 xref: SNOMEDCT:24226003 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4808 name: Blastocladiella emersonii namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:481606 name: Xenopus laevis x Xenopus muelleri namespace: ncbi_taxonomy synonym: "Xenopus laevis x X. muelleri" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:482 name: Neisseria namespace: ncbi_taxonomy synonym: "Gonococcus" EXACT synonym [NCBITaxonRef:Lindau_1898] synonym: "Gonococcus" EXACT synonym [] synonym: "Merismopedia" EXACT synonym [NCBITaxonRef:Zopf_1885] synonym: "Neisseria Trevisan 1885" EXACT synonym [] synonym: "Nesseira" EXACT misspelling [] xref: MeSH:D009343 xref: NCIt:C76371 xref: SNOMEDCT:59083001 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:482058 name: Ralstonia phage RSL1 namespace: ncbi_taxonomy synonym: "Ralstonia solanacearum phage RSL1" EXACT synonym [] is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:482957 name: Burkholderia lata namespace: ncbi_taxonomy synonym: "Burkholderia mana" EXACT misspelling [] xref: SNOMEDCT:442143003 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:483 name: Neisseria cinerea namespace: ncbi_taxonomy synonym: "Micrococcus cinereus" EXACT synonym [] xref: MeSH:D042804 xref: NCIt:C86601 xref: SNOMEDCT:69312007 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:484 name: Neisseria flavescens namespace: ncbi_taxonomy xref: NCIt:C86602 xref: SNOMEDCT:75566007 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:48416 name: Zoarces viviparus namespace: ncbi_taxonomy synonym: "Blennius viviparus" EXACT synonym [] synonym: "viviparous blenny" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:48485 name: Fusarium anthophilum namespace: ncbi_taxonomy is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:48498 name: Montastraea faveolata namespace: ncbi_taxonomy synonym: "Montastrea faveolata" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:485 name: Neisseria gonorrhoeae namespace: ncbi_taxonomy synonym: "Diplococcus gonorrhoeae" EXACT synonym [] synonym: "Gonococcus neisseri" EXACT synonym [] synonym: "Merismopedia gonorrhoeae" EXACT synonym [] synonym: "Micrococcus der gonorrhoe" EXACT synonym [] synonym: "Micrococcus gonococcus" EXACT synonym [] synonym: "Micrococcus gonorrhoeae" EXACT synonym [] synonym: "Neisseria gonorrheae" EXACT misspelling [] synonym: "Neisseria gonorrhoeae." EXACT misspelling [] synonym: "Nesseria gonorrhoeae" EXACT misspelling [] xref: MeSH:D009344 xref: NCIt:C86603 xref: SNOMEDCT:68704007 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:486 name: Neisseria lactamica namespace: ncbi_taxonomy synonym: "Neisseria lactamicus" EXACT synonym [] xref: MeSH:D042806 xref: NCIt:C86604 xref: SNOMEDCT:54915000 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:486041 name: Laccaria bicolor S238N-H82 namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:487 name: Neisseria meningitidis namespace: ncbi_taxonomy synonym: "Diplokokkus intracellularis meningitidis" EXACT synonym [] synonym: "Micrococcus intracellularis" EXACT synonym [] synonym: "Micrococcus meningitidis" EXACT synonym [] synonym: "Micrococcus meningitidis cerebrospinalis" EXACT synonym [] synonym: "Neisseria meningitidis." EXACT misspelling [] synonym: "Neisseria weichselbaumii" EXACT synonym [] xref: MeSH:D009345 xref: NCIt:C86605 xref: SNOMEDCT:17872004 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:48709 name: Orchesella cincta namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4876 name: Glomus intraradices namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:487795 name: Cardamine sp. SIM-2007 namespace: ncbi_taxonomy is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:488 name: Neisseria mucosa namespace: ncbi_taxonomy synonym: "Diplococcus mucosus" EXACT synonym [] xref: MeSH:D042807 xref: NCIt:C86606 xref: SNOMEDCT:81795000 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:48882 name: Geospiza conirostris namespace: ncbi_taxonomy synonym: "Geospiza cornirostris" EXACT misspelling [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:48883 name: Geospiza fortis namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:48885 name: Geospiza magnirostris namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:48886 name: Geospiza scandens namespace: ncbi_taxonomy synonym: "Geospiza scadens" EXACT misspelling [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:489 name: Neisseria polysaccharea namespace: ncbi_taxonomy synonym: "Neisseria polysacchareae" EXACT synonym [] xref: NCIt:C86607 xref: SNOMEDCT:66768001 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4890 name: Ascomycota def: "Strain or line specific to yeast" [] synonym: "yeasts" EXACT [] xref: MeSH:D001203 xref: NCIt:C77167 xref: SNOMEDCT:415098006 is_a: NCBITaxon:2759 ! Eukaryota property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0000740 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: NCBITaxon:4896 name: Schizosaccharomyces pombe namespace: ncbi_taxonomy synonym: "fission yeast" EXACT common_name [] synonym: "Schizosaccharomyces malidevorans" EXACT synonym [] synonym: "Schizosaccharomyces pombeP" EXACT misspelling [] is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: NCBITaxon:4897 name: Schizosaccharomyces japonicus namespace: ncbi_taxonomy synonym: "Schizosaccharomyces japonicus var. japonicus" EXACT synonym [] synonym: "Schizosaccharomyces japonicus var. versatilis" EXACT synonym [] is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4922 name: Komagataella pastoris namespace: ncbi_taxonomy synonym: "Komagataella pastoris (Guilliermond) Y.Yamada et al." EXACT synonym [] synonym: "Pichia pastoris" EXACT genbank_synonym [] synonym: "Pichia pastoris (Guillierm.) Phaff" EXACT synonym [] is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:49225 name: Triticum dicoccon def: "Triticum dicoccon (cultivated emmer wheat) is one of the earliest domesticated wheat species." [] synonym: "cultivated emmer wheat" EXACT [] synonym: "Triticum turgidum subsp. dicoccon" EXACT [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:49274 name: Lycopersicon namespace: ncbi_taxonomy synonym: "Lycopersicon (Mill.) Seithe" EXACT synonym [] synonym: "Lycopersicum" EXACT misspelling [] xref: SNOMEDCT:112612000 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:subgenus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4931 name: Saccharomyces bayanus namespace: ncbi_taxonomy is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4932 name: Saccharomyces cerevisiae namespace: ncbi_taxonomy synonym: "baker's yeast" EXACT common_name [] synonym: "brewer's yeast" EXACT common_name [] synonym: "Candida robusta" EXACT anamorph [] synonym: "lager beer yeast" EXACT common_name [] synonym: "Saccaromyces cerevisiae" EXACT misspelling [] synonym: "Saccharomyces capensis" EXACT synonym [] synonym: "Saccharomyces italicus" EXACT synonym [] synonym: "Saccharomyces oviformis" EXACT synonym [] synonym: "Saccharomyces uvarum var. melibiosus" EXACT synonym [] synonym: "Saccharomyes cerevisiae" EXACT misspelling [] synonym: "Sccharomyces cerevisiae" EXACT misspelling [] synonym: "yeast" EXACT common_name [] xref: MeSH:D012441 xref: NCIt:C14271 xref: SNOMEDCT:58296003 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: NCBITaxon:49451 name: Nicotiana attenuata namespace: ncbi_taxonomy xref: SNOMEDCT:39054006 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:495 name: Neisseria elongata namespace: ncbi_taxonomy synonym: "Neisseria elongata Bovre and Holten 1970" EXACT synonym [] xref: MeSH:D042805 xref: SNOMEDCT:12638001 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4952 name: Yarrowia lipolytica namespace: ncbi_taxonomy synonym: "Candida lipolytica" EXACT anamorph [] synonym: "Mycotorula lipolytica" EXACT synonym [] synonym: "Yallowia lipolitica" EXACT misspelling [] xref: NCIt:C114257 xref: SNOMEDCT:703153003 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:4959 name: Debaryomyces hansenii namespace: ncbi_taxonomy synonym: "Debaromyces hansenii" EXACT misspelling [] synonym: "Torulaspora hansenii" EXACT synonym [] xref: SNOMEDCT:243428001 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:495941 name: Falco chicquera namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:49785 name: Spartina anglica namespace: ncbi_taxonomy is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:49786 name: Spartina maritima namespace: ncbi_taxonomy synonym: "Dactylis maritima" EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:498216 name: Lactobacillus casei str. Zhang namespace: ncbi_taxonomy synonym: "Lactobacillus casei strain Zhang" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5022 name: Leptosphaeria maculans namespace: ncbi_taxonomy synonym: "blackleg of canola fungus" EXACT common_name [] synonym: "blackleg of crucifers fungus" EXACT common_name [] synonym: "blackleg of rapeseed fungus" EXACT common_name [] synonym: "Phoma lingam" EXACT anamorph [] is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:50225 name: Taraxacum officinale namespace: ncbi_taxonomy synonym: "dandelion" EXACT common_name [] synonym: "Taraxacum officinalis" EXACT misspelling [] xref: NCIt:C73951 xref: SNOMEDCT:256087004 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:502705 name: Fusarium acuminatum namespace: ncbi_taxonomy xref: SNOMEDCT:40222003 is_a: NCBITaxon:4890 ! Ascomycota property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:502779 name: Paracoccidioides brasiliensis Pb01 namespace: ncbi_taxonomy is_a: NCBITaxon:4890 ! Ascomycota property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5037 name: Ajellomyces capsulatus namespace: ncbi_taxonomy synonym: "Ajellomyces capsulata" EXACT synonym [] synonym: "Ajellomyces capsulatas" EXACT misspelling [] synonym: "Histoplasma capsulatum" EXACT anamorph [] xref: NCIt:C77186 xref: SNOMEDCT:62969002 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5054 name: Eurotium amstelodami namespace: ncbi_taxonomy synonym: "Aspergillus amstelodami" EXACT anamorph [] synonym: "Aspergillus vitis" EXACT synonym [] xref: SNOMEDCT:42132005 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:50557 name: Insecta def: "Insecta (insects) are a class of invertebrates within the arthropod phylum that have a chitinous exoskeleton, a three-part body (head, thorax and abdomen), three pairs of jointed legs, compound eyes and one pair of antennae. They are among the most diverse groups of animals on the planet, including more than a million described species and representing more than half of all known living organisms." [] synonym: "true insects" EXACT [] xref: Wikipedia:Insect is_a: NCBITaxon:6656 ! Arthropoda property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:5057 name: Aspergillus clavatus namespace: ncbi_taxonomy xref: NCIt:C87505 xref: SNOMEDCT:87240002 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5059 name: Aspergillus flavus namespace: ncbi_taxonomy synonym: "Petromyces flavus" EXACT teleomorph [] xref: MeSH:D001231 xref: NCIt:C77181 xref: SNOMEDCT:66821001 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:50591 name: Lithognathus mormyrus namespace: ncbi_taxonomy synonym: "Lithognathus mormyrus (Linnaeus, 1758)" EXACT synonym [] synonym: "Pagellus mormyrus" EXACT synonym [] synonym: "sand steenbras" EXACT common_name [] synonym: "Sparus mormyrus" EXACT synonym [] synonym: "striped seabream" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5061 name: Aspergillus niger namespace: ncbi_taxonomy synonym: "A. niger" EXACT misspelling [] synonym: "Aspergillus niger Tiegh." EXACT synonym [] xref: MeSH:D001234 xref: NCIt:C121138 xref: SNOMEDCT:89354002 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5062 name: Aspergillus oryzae namespace: ncbi_taxonomy synonym: "Aspergillus oryza" EXACT misspelling [] synonym: "Eurotium oryzae" EXACT teleomorph [] xref: MeSH:D001236 xref: SNOMEDCT:35805009 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5067 name: Aspergillus parasiticus namespace: ncbi_taxonomy xref: SNOMEDCT:57685002 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5076 name: Penicillium chrysogenum namespace: ncbi_taxonomy synonym: "Penicillium notatum" EXACT synonym [] xref: MeSH:D010408 xref: SNOMEDCT:24406000 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:51029 name: Heterodera glycines namespace: ncbi_taxonomy synonym: "Heterodera glycine" EXACT misspelling [] synonym: "Heterodera glycines Ichinohe, 1952" EXACT synonym [] synonym: "soybean cyst nematode" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:510516 name: Aspergillus oryzae RIB40 namespace: ncbi_taxonomy is_a: NCBITaxon:4890 ! Ascomycota property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5111 name: Claviceps purpurea namespace: ncbi_taxonomy synonym: "ergot fungus" EXACT common_name [] synonym: "Sphacelia segetum" EXACT anamorph [] xref: SNOMEDCT:55811003 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:511145 name: Escherichia coli str. K-12 substr. MG1655 namespace: ncbi_taxonomy synonym: "Escherichia coli MG1655" EXACT synonym [] synonym: "Escherichia coli str. K12 substr. MG1655" EXACT equivalent_name [] synonym: "Escherichia coli str. MG1655" EXACT equivalent_name [] synonym: "Escherichia coli strain MG1655" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:511693 name: Escherichia coli BL21 namespace: ncbi_taxonomy synonym: "Escherichia coli str. BL21" EXACT equivalent_name [] synonym: "Escherichia coli strain BL21" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5127 name: Gibberella fujikuroi namespace: ncbi_taxonomy synonym: "Fusarium fujikuroi" EXACT genbank_anamorph [] is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5128 name: Gibberella pulicaris namespace: ncbi_taxonomy synonym: "Fusarium sambucinum" EXACT anamorph [] is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:51336 name: Cabbage leaf curl virus def: "Cabbage leaf curl virus is a bipartite geminivirus that infects a broad range of plants within the Brassicaceae, including cabbage, cauliflower, and Arabidopsis." [] xref: PMID:9792839 is_a: NCBITaxon:10239 ! Virus property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:51351 name: Brassica rapa subsp. pekinensis namespace: ncbi_taxonomy synonym: "bai cai" EXACT common_name [] synonym: "Brassica campestris (Pekinensis Group)" EXACT genbank_synonym [] synonym: "Brassica campestris ssp. pekinensis" EXACT misspelling [] synonym: "Brassica campestris subsp. pekinensis" EXACT synonym [] synonym: "Brassica campestris var. pekinensis" EXACT synonym [] synonym: "Brassica pekinensis" EXACT synonym [] synonym: "Brassica rapa Chinese Cabbage Group" EXACT synonym [] synonym: "Brassica rapa ssp. pekinensis" EXACT misspelling [] synonym: "Brassica rapa var. glabra" EXACT synonym [] synonym: "celery cabbage" EXACT common_name [] synonym: "Chinese cabbage" EXACT common_name [] synonym: "pe-tsai" EXACT common_name [] xref: SNOMEDCT:227225005 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5141 name: Neurospora crassa namespace: ncbi_taxonomy synonym: "Chrysonilia crassa" EXACT anamorph [] xref: MeSH:D009492 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5145 name: Podospora anserina namespace: ncbi_taxonomy is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:51453 name: Hypocrea jecorina namespace: ncbi_taxonomy synonym: "Hypocea jecorina" EXACT misspelling [] synonym: "Hypocrea pecorina" EXACT misspelling [] synonym: "Trichoderma reesei" EXACT genbank_anamorph [] is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5147 name: Sordaria macrospora namespace: ncbi_taxonomy is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:515622 name: Butyrivibrio proteoclasticus B316 namespace: ncbi_taxonomy synonym: "Butyrivibrio proteoclasticus str. B316" EXACT equivalent_name [] synonym: "Butyrivibrio proteoclasticus strain B316" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:51631 name: Nucella lapillus namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:51751 name: Python regius namespace: ncbi_taxonomy synonym: "ball python" EXACT common_name [] synonym: "Boa regia" EXACT synonym [] synonym: "Python regius (Shaw, 1802)" EXACT synonym [] synonym: "royal python" EXACT common_name [] synonym: "Shireenhoserus regius" EXACT synonym [] xref: SNOMEDCT:15219006 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:51769 name: Anemonia viridis namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:518 name: Bordetella bronchiseptica namespace: ncbi_taxonomy synonym: "Alcaligenes bronchicanis" EXACT synonym [NCBITaxonRef:Ferry_1911_Haupt_1935] synonym: "Alcaligenes bronchicanis" EXACT synonym [] synonym: "Alcaligenes bronchisepticus" EXACT synonym [NCBITaxonRef:Ferry_1912_Bergey_et_al._1925] synonym: "Alcaligenes bronchisepticus" EXACT synonym [] synonym: "Bacillus bronchicanis" EXACT synonym [] synonym: "Bacillus bronchicanis" EXACT synonym [NCBITaxonRef:Ferry_1911] synonym: "Bacillus bronchisepticus" EXACT synonym [] synonym: "Bacillus bronchisepticus" EXACT synonym [NCBITaxonRef:Ferry_1912] synonym: "Bacterium bronchisepticus" EXACT synonym [NCBITaxonRef:Ferry_1912_Evans_1918] synonym: "Bacterium bronchisepticus" EXACT synonym [] synonym: "Bordetella bronchiseptica (Ferry 1912) Moreno-Lopez 1952" EXACT synonym [] synonym: "Bordetella bronchiseptica@" EXACT misspelling [] synonym: "Brucella bronchispetica" EXACT synonym [] synonym: "Brucella bronchispetica" EXACT synonym [NCBITaxonRef:Ferry_1912_Topley_and_Wilson_1929] synonym: "Haemophilus bronchisepticus" EXACT synonym [] synonym: "Haemophilus bronchisepticus" EXACT synonym [NCBITaxonRef:Ferry_1912_Wilson_and_Miles_1946] xref: MeSH:D016950 xref: NCIt:C86204 xref: SNOMEDCT:10620008 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:51859 name: Corallus namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:519 name: Bordetella parapertussis namespace: ncbi_taxonomy synonym: "Acinetobacter parapertussis" EXACT synonym [NCBITaxonRef:Eldering_and_Kendrick_1938_Steel_and_Cowan_1964] synonym: "Acinetobacter parapertussis" EXACT synonym [] synonym: "Bacillus parapertussis" EXACT synonym [] synonym: "Bacillus parapertussis" EXACT synonym [NCBITaxonRef:Eldering_and_Kendrick_1938] synonym: "Bordetella parapertussis (Eldering and Kendrick 1938) Moreno-Lopez 1952" EXACT synonym [] synonym: "Haemophilus parapertussis" EXACT synonym [] synonym: "Haemophilus parapertussis" EXACT synonym [NCBITaxonRef:Eldering_and_Kendrick_1938_Wilson_and_Miles_1946] xref: MeSH:D042483 xref: NCIt:C86205 xref: SNOMEDCT:26183002 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:520 name: Bordetella pertussis namespace: ncbi_taxonomy synonym: "Bacterium tussis-convulsivae" EXACT synonym [] synonym: "Haemophilus pertussis" EXACT synonym [] synonym: "Hemophilus pertussis" EXACT synonym [] synonym: "Microbe de la coqueluche" EXACT synonym [] xref: MeSH:D001886 xref: NCIt:C76205 xref: SNOMEDCT:5247005 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:520522 name: Saccharomyces pastorianus Weihenstephan 34/70 namespace: ncbi_taxonomy is_a: NCBITaxon:4890 ! Ascomycota property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5207 name: Cryptococcus neoformans namespace: ncbi_taxonomy synonym: "Filobasidiella neoformans" EXACT teleomorph [] synonym: "Filobaxidiella neoformans" EXACT misspelling [] xref: MeSH:D003455 xref: NCIt:C14195 xref: SNOMEDCT:67168003 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:52586 name: Erysiphe necator def: "Erysiphe necator is a obligate biotrophic fungus that causes grapevine powdery mildew" [] synonym: "grape powdery mildew" EXACT [] synonym: "Uncinula necator" EXACT [] is_a: NCBITaxon:4890 ! Ascomycota property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:52670 name: Austrofundulus limnaeus namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5270 name: Ustilago maydis namespace: ncbi_taxonomy xref: NCIt:C87523 xref: SNOMEDCT:243447003 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:527021 name: Bacillus thuringiensis Bt407 namespace: ncbi_taxonomy is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:52765 name: Caldicellulosiruptor kristjanssonii namespace: ncbi_taxonomy synonym: "Caldicellulosiruptor kristjanssonii Bredholt et al. 1999" EXACT synonym [] xref: SNOMEDCT:433535007 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:52766 name: Caldicellulosiruptor lactoaceticus namespace: ncbi_taxonomy xref: SNOMEDCT:433742005 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:52824 name: Brassica carinata namespace: ncbi_taxonomy synonym: "Abyssinian mustard" EXACT common_name [] synonym: "Brassica carinata A.Braun" EXACT synonym [] synonym: "Ethiopian mustard" EXACT common_name [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:528351 name: Neisseria gonorrhoeae F62 namespace: ncbi_taxonomy is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:529 name: Ochrobactrum anthropi namespace: ncbi_taxonomy xref: MeSH:D020621 xref: NCIt:C86620 xref: SNOMEDCT:116490002 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:52904 name: Scophthalmus maximus namespace: ncbi_taxonomy synonym: "Pleuronectes maximus" EXACT synonym [] synonym: "Psetta maxima" EXACT synonym [] synonym: "Rhombus maximus" EXACT synonym [] synonym: "Scopthalmus maximus" EXACT misspelling [] synonym: "turbot" EXACT common_name [] xref: SNOMEDCT:227105000 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:529507 name: Proteus mirabilis HI4320 namespace: ncbi_taxonomy synonym: "Proteus mirabilis str. HI4320" EXACT equivalent_name [] synonym: "Proteus mirabilis strain HI4320" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:529916 name: Heliconius erato etylus x Heliconius himera namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5306 name: Phanerochaete chrysosporium namespace: ncbi_taxonomy synonym: "Chrysosporium xerophilum" EXACT synonym [] synonym: "Phanerochaete chrysosporium Burdsall" EXACT synonym [] synonym: "Sporotrichum pruinosum" EXACT genbank_anamorph [] xref: NCIt:C87519 xref: SNOMEDCT:415964000 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5334 name: Schizophyllum commune namespace: ncbi_taxonomy xref: SNOMEDCT:243445006 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:53346 name: Enterococcus mundtii namespace: ncbi_taxonomy xref: NCIt:C86373 xref: SNOMEDCT:38004008 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5346 name: Coprinopsis cinerea namespace: ncbi_taxonomy synonym: "Coprinus cinereus" EXACT genbank_synonym [] synonym: "Coprinus macrorhizus" EXACT synonym [] xref: SNOMEDCT:20846006 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5353 name: Lentinula edodes namespace: ncbi_taxonomy synonym: "Lentinus edodes" EXACT synonym [] synonym: "shiitake mushroom" EXACT common_name [] xref: NCIt:C72008 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:536056 name: Escherichia coli DH1 namespace: ncbi_taxonomy synonym: "Escherichia coli ATCC 33849" EXACT synonym [] synonym: "Escherichia coli str. DH1" EXACT equivalent_name [] synonym: "Escherichia coli strain DH1" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:538997 name: Eucalyptus camaldulensis x Eucalyptus grandis namespace: ncbi_taxonomy is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:53961 name: Salmonella enterica subsp. enterica serovar Abortusovis namespace: ncbi_taxonomy synonym: "Salmonella abortus-ovis" EXACT synonym [] synonym: "Salmonella abortusovis" EXACT synonym [] xref: SNOMEDCT:83318007 is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:54126 name: Pristionchus pacificus namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5415 name: Cryptococcus namespace: ncbi_taxonomy xref: MeSH:D003454 xref: NCIt:C77184 xref: SNOMEDCT:17579001 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:542 name: Zymomonas mobilis namespace: ncbi_taxonomy synonym: "Achromobacter anaerobium" EXACT synonym [NCBITaxonRef:sic_Shimwell_1937] synonym: "Achromobacter anaerobium" EXACT synonym [] synonym: "Pseudomonas lindneri" EXACT synonym [NCBITaxonRef:Kluyver_and_Hoppenbrouwers_1931] synonym: "Pseudomonas lindneri" EXACT synonym [] synonym: "Saccharomonas lindneri" EXACT synonym [NCBITaxonRef:Kluyver_and_Hoppenbrouwers_1931_Shimwell_1950] synonym: "Saccharomonas lindneri" EXACT synonym [] synonym: "Thermobacterium mobile" EXACT synonym [] synonym: "Thermobacterium mobile" EXACT synonym [NCBITaxonRef:Lindner_1928] synonym: "Zymomonas anaerobia" EXACT synonym [] synonym: "Zymomonas anaerobia" EXACT synonym [NCBITaxonRef:Shimwell_1937_Kluyver_1957] synonym: "Zymomonas mobile" EXACT synonym [NCBITaxonRef:sic_Lindner_1928_Kluyver_and_van_Niel_1936] synonym: "Zymomonas mobile" EXACT synonym [] synonym: "Zymomonas mobilis (Lindner 1928) Kluyver and van Niel 1936" EXACT synonym [] synonym: "Zymononas mobilis" EXACT misspelling [] xref: SNOMEDCT:440957006 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:54261 name: Ferroglobus placidus namespace: ncbi_taxonomy xref: SNOMEDCT:418164003 is_a: NCBITaxon:2157 ! Archaea property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:54388 name: Salmonella enterica subsp. enterica serovar Paratyphi A namespace: ncbi_taxonomy synonym: "Bacterium paratyphi" EXACT synonym [] synonym: "Bacterium paratyphi typhus A" EXACT synonym [] synonym: "Salmonella choleraesuis choleraesuis (serotype paratyphi A)" EXACT synonym [] synonym: "Salmonella choleraesuis subsp. choleraesuis serovar Paratyphi A" EXACT synonym [] synonym: "Salmonella paratyphi" EXACT genbank_synonym [] synonym: "Salmonella paratyphi A" EXACT synonym [] synonym: "Salmonella paratyphi-a" EXACT synonym [] xref: MeSH:D012482 xref: SNOMEDCT:79128009 is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:545 name: Citrobacter koseri namespace: ncbi_taxonomy synonym: "Aerobacter diversum" EXACT synonym [NCBITaxonRef:sic_Burkey_1928] synonym: "Aerobacter diversum" EXACT synonym [] synonym: "Citrobacter diversum" EXACT synonym [] synonym: "Citrobacter diversum (sic) (Burkey 1928) Werkman and Gillen 1932" EXACT synonym [] synonym: "Citrobacter diversus" EXACT synonym [] synonym: "Citrobacter diversus (Burkey 1928) Werkman and Gillen 1932" EXACT synonym [] synonym: "Citrobacter intermedius biogroup b" EXACT synonym [] synonym: "Citrobacter koseri Frederiksen 1970" EXACT synonym [] synonym: "Levinea malonatica" EXACT synonym [] synonym: "Levinea malonatica Young et al. 1971 (Approved Lists 1980)" EXACT synonym [] xref: MeSH:D041041 xref: NCIt:C86267 xref: SNOMEDCT:114264004 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:54571 name: Streptomyces venezuelae namespace: ncbi_taxonomy synonym: "Streptomyces venezuelensis" EXACT equivalent_name [] xref: SNOMEDCT:66591004 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:54736 name: Salmonella bongori namespace: ncbi_taxonomy synonym: "Salmonella cholerae-suis subsp. bongori" EXACT synonym [] synonym: "Salmonella choleraesuis subsp. bongori" EXACT synonym [] synonym: "Salmonella enterica subsp. bongori" EXACT synonym [] synonym: "Salmonella enterica subsp. V" EXACT synonym [] synonym: "Salmonella enterica V" EXACT synonym [] xref: NCIt:C91842 xref: SNOMEDCT:398393000 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5476 name: Candida albicans namespace: ncbi_taxonomy synonym: "Candida stellatoidea" EXACT synonym [] synonym: "Candida stellatoidea type I" EXACT synonym [] xref: MeSH:D002176 xref: NCIt:C77170 xref: SNOMEDCT:53326005 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5478 name: Candida glabrata namespace: ncbi_taxonomy synonym: "Torulopsis glabrata" EXACT synonym [] xref: MeSH:D041221 xref: NCIt:C77179 xref: SNOMEDCT:444877006 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5480 name: Candida parapsilosis namespace: ncbi_taxonomy synonym: "Candida parapsilopsis" EXACT misspelling [] xref: NCIt:C77176 xref: SNOMEDCT:61302002 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:549 name: Pantoea agglomerans namespace: ncbi_taxonomy synonym: "Bacillus milletiae" EXACT synonym [] synonym: "Bacterium herbicola" EXACT synonym [] synonym: "Enterobacter agglomerans" EXACT synonym [] synonym: "Enterobacter aglomerans" EXACT misspelling [] synonym: "Erwinia herbicola" EXACT synonym [] synonym: "Erwinia milletiae" EXACT synonym [] synonym: "Pantoea herbicola" EXACT synonym [] synonym: "Pseudomonas herbicola" EXACT synonym [] xref: NCIt:C86632 xref: SNOMEDCT:115015008 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:54921 name: Pinus resinosa namespace: ncbi_taxonomy synonym: "Canadian red pine" EXACT common_name [] synonym: "Norway pine" EXACT common_name [] synonym: "red pine" EXACT common_name [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5503 name: Cochliobolus lunatus namespace: ncbi_taxonomy synonym: "Curvularia lunata" EXACT genbank_anamorph [] synonym: "Pseudocochliobolus lunatus" EXACT synonym [] xref: SNOMEDCT:33165007 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5506 name: Fusarium def: "Fusarium is a large genus of filamentous fungi, part of a group often referred to as hyphomycetes, widely distributed in soil and associated with plants." [] is_a: NCBITaxon:4890 ! Ascomycota property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:5507 name: Fusarium oxysporum namespace: ncbi_taxonomy xref: SNOMEDCT:38836002 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:55096 name: Ippy virus namespace: ncbi_taxonomy synonym: "IPPYV" EXACT acronym [] is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:55097 name: Mobala virus namespace: ncbi_taxonomy synonym: "MOBV" EXACT acronym [] is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5514 name: Fusarium sporotrichioides namespace: ncbi_taxonomy xref: SNOMEDCT:7626000 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:55173 name: Leptosphaerulina chartarum namespace: ncbi_taxonomy synonym: "Pithomyces chartarum" EXACT anamorph [] xref: SNOMEDCT:75806004 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5518 name: Fusarium graminearum namespace: ncbi_taxonomy def: "Fusarium graminearum (teleomorph Gibberella zeae) is a plant pathogen which causes fusarium head blight and affects many cereal crops." [] synonym: "Fusarium graminearum" EXACT genbank_anamorph [] synonym: "Gibberella zeae" EXACT [] xref: SNOMEDCT:11090009 is_a: NCBITaxon:5506 ! Fusarium property_value: definition:citation http://www.instepp.umn.edu/sites/default/files/product/downloadable/Fusarium%20graminearum%20HC.pdf xsd:string property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:552 name: Erwinia amylovora namespace: ncbi_taxonomy synonym: "Bacillus amylovorus" EXACT synonym [] synonym: "Bacterium amylovorus" EXACT synonym [] synonym: "Micrococcus amylovorus" EXACT synonym [] xref: MeSH:D044084 xref: SNOMEDCT:50097002 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:55205 name: Caldicellulosiruptor owensensis namespace: ncbi_taxonomy synonym: "Caldicellulosiruptor owensense" EXACT misspelling [] xref: SNOMEDCT:433579005 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:552467 name: Cryptococcus gattii namespace: ncbi_taxonomy synonym: "anamorph of Filobasidiella bacillispora" EXACT synonym [] synonym: "Cryptococcus bacillisporus" EXACT synonym [] synonym: "Cryptococcus neoformans B" EXACT in_part [] synonym: "Cryptococcus neoformans serotype B" EXACT in_part [] synonym: "Cryptococcus neoformans serotype C" EXACT in_part [] synonym: "Cryptococcus neoformans var. gatti" EXACT synonym [] synonym: "Cryptococcus neoformans var. gattii" EXACT synonym [] synonym: "Cryptococcus neoformans var. shanghaiensis" EXACT synonym [] synonym: "Filobasidiella bacillispora" EXACT teleomorph [] synonym: "Filobasidiella neoformans var. bacillispora" EXACT synonym [] synonym: "Filobasidiella neoformans var. gattii" EXACT misnomer [] xref: MeSH:D056285 xref: NCIt:C114268 xref: SNOMEDCT:450862004 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5529 name: Metarhizium namespace: ncbi_taxonomy xref: MeSH:D052981 xref: SNOMEDCT:116443004 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5530 name: Metarhizium anisopliae namespace: ncbi_taxonomy synonym: "Metarhizium anisolpiae" EXACT misspelling [] synonym: "Metarhizium anisopliae var. anisopliae" EXACT synonym [] synonym: "Metarrhizium anisopliae" EXACT misspelling [] xref: SNOMEDCT:116446007 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:55313 name: Elodea nuttallii namespace: ncbi_taxonomy is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:554 name: Pectobacterium carotovorum namespace: ncbi_taxonomy synonym: "Bacillus carotovorus" EXACT synonym [] synonym: "Bacterium carotovorum" EXACT synonym [] synonym: "Erwinia caratovora" EXACT misspelling [] synonym: "Erwinia carotovora" EXACT genbank_synonym [] synonym: "Pectobacterium cartovorum" EXACT misspelling [] xref: MeSH:D016973 xref: SNOMEDCT:420478006 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5544 name: Trichoderma harzianum namespace: ncbi_taxonomy def: "Trichoderma harzianum is fungus widely recognized as a potential biocontrol agent against several soilborne plant pathogens." [] synonym: "Hypocrea lixi" EXACT misspelling [] synonym: "Hypocrea lixii" EXACT [] synonym: "Trichoderma harizianum" EXACT misspelling [] synonym: "Trichoderma harzianum" EXACT genbank_anamorph [] xref: PMID:10103232 xref: SNOMEDCT:415971005 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:555 name: Pectobacterium carotovorum subsp. carotovorum is_a: NCBITaxon:554 ! Pectobacterium carotovorum [Term] id: NCBITaxon:5551 name: Trichophyton rubrum namespace: ncbi_taxonomy xref: SNOMEDCT:372008 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:55583 name: Dehalobacter restrictus namespace: ncbi_taxonomy synonym: "Dehalobacterium restrictus" EXACT misspelling [] xref: SNOMEDCT:433926009 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:556 name: Erwinia chrysanthemi namespace: ncbi_taxonomy synonym: "Dickeya chrysanthemi" EXACT synonym [] synonym: "Erwinia carotovora var. chrysanthemi" EXACT synonym [] synonym: "Erwinia chrysanhemi" EXACT misspelling [] synonym: "Pectobacterium carotovorum var. chrysanthemi" EXACT synonym [] synonym: "Pectobacterium cartovorum f. sp. chrysanthemi" EXACT synonym [] synonym: "Pectobacterium chrysanthemi" EXACT synonym [] synonym: "Pectobacterium chrysanthemi = Dickeya chrysanthemi" EXACT genbank_synonym [] synonym: "Pectobacterium parthenii" EXACT synonym [] synonym: "Pectobacterium parthenii var. chrysanthemi" EXACT synonym [] synonym: "Pectobacterium parthenii var. dianthicola" EXACT synonym [] xref: MeSH:D016974 xref: SNOMEDCT:421225004 xref: SNOMEDCT:430612001 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:556182 name: freshwater sediment metagenome namespace: ncbi_taxonomy is_a: OBI:0100026 ! organism property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:55887 name: Rhabditinae is_a: NCBITaxon:2759 ! Eukaryota [Term] id: NCBITaxon:559292 name: Saccharomyces cerevisiae S288C namespace: ncbi_taxonomy is_a: NCBITaxon:4932 ! Saccharomyces cerevisiae property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5599 name: Alternaria alternata namespace: ncbi_taxonomy xref: NCIt:C87529 xref: SNOMEDCT:36703000 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:561307 name: Staphylococcus aureus subsp. aureus RN4220 namespace: ncbi_taxonomy synonym: "Staphylococcus aureus RN4220" EXACT synonym [] synonym: "Staphylococcus aureus subsp. aureus str. RN4220" EXACT equivalent_name [] synonym: "Staphylococcus aureus subsp. aureus strain RN4220" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:562 name: Escherichia coli namespace: ncbi_taxonomy synonym: "Bacillus coli" EXACT synonym [] synonym: "Bacterium coli" EXACT synonym [] synonym: "Bacterium coli commune" EXACT synonym [] synonym: "bacterium E3" EXACT synonym [] synonym: "Enterococcus coli" EXACT synonym [] synonym: "Escherchia coli" EXACT misspelling [] synonym: "Eschericia coli" EXACT misspelling [] xref: MeSH:D004926 xref: NCIt:C14206 xref: SNOMEDCT:112283007 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:56364 name: Agrotis ipsilon namespace: ncbi_taxonomy synonym: "Agrotis ipsolon" EXACT misspelling [] synonym: "Agrotis ypsilon" EXACT misspelling [] synonym: "black cutworm moth" EXACT common_name [] synonym: "dark sword grass moth" EXACT common_name [] synonym: "greasy cutworm moth" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:564 name: Escherichia fergusonii namespace: ncbi_taxonomy synonym: "CDC Enteric Group 10" EXACT synonym [] xref: NCIt:C86380 xref: SNOMEDCT:72461005 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:565050 name: Caulobacter crescentus NA1000 namespace: ncbi_taxonomy synonym: "Caulobacter crescentus str. NA1000" EXACT equivalent_name [] synonym: "Caulobacter crescentus strain NA1000" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5660 name: Leishmania braziliensis namespace: ncbi_taxonomy synonym: "Leishmania (Viannia) braziliensis" EXACT synonym [] synonym: "Leishmania brasiliensis" EXACT synonym [] synonym: "Leishmania viannia" EXACT synonym [] xref: MeSH:D007892 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5661 name: Leishmania donovani namespace: ncbi_taxonomy synonym: "Leishmania (Leishmania) donovani" EXACT synonym [] xref: MeSH:D007893 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:56615 name: Puccinia graminis f. sp. tritici namespace: ncbi_taxonomy synonym: "Puccinia graminis f.sp. tritici" EXACT misspelling [] is_a: NCBITaxon:2759 ! Eukaryota property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5664 name: Leishmania major namespace: ncbi_taxonomy synonym: "Leishmania (Leishmania) major" EXACT synonym [] synonym: "Leishmania tropica major" EXACT synonym [] xref: MeSH:D018320 xref: SNOMEDCT:51278002 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:56641 name: Fusarium cerealis namespace: ncbi_taxonomy synonym: "Fusarium crookwellense" EXACT synonym [] is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5665 name: Leishmania mexicana namespace: ncbi_taxonomy synonym: "Leishmania (Leishmania) mexicana" EXACT synonym [] xref: MeSH:D007894 xref: SNOMEDCT:243654004 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5671 name: Leishmania infantum namespace: ncbi_taxonomy synonym: "Leishmania (Leishmania) infantum" EXACT synonym [] synonym: "Leishmania donovani infantum" EXACT synonym [] xref: MeSH:D018314 xref: SNOMEDCT:243655003 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:568703 name: Lactobacillus rhamnosus GG namespace: ncbi_taxonomy synonym: "Lactobacillus rhamnosus ATCC 53103" EXACT synonym [] synonym: "Lactobacillus rhamnosus str. GG" EXACT equivalent_name [] synonym: "Lactobacillus rhamnosus strain GG" EXACT equivalent_name [] xref: NCIt:C61097 is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5689 name: Leishmania tarentolae namespace: ncbi_taxonomy synonym: "Sauroleishmania tarentolae" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5691 name: Trypanosoma brucei namespace: ncbi_taxonomy synonym: "Trypanosoma (Trypanozoon) brucei" EXACT synonym [] synonym: "Trypanosoma brucei subgroup" EXACT synonym [] xref: SNOMEDCT:243659009 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5693 name: Trypanosoma cruzi namespace: ncbi_taxonomy xref: MeSH:D014349 xref: SNOMEDCT:88274000 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5699 name: Trypanosoma vivax namespace: ncbi_taxonomy xref: MeSH:D016689 xref: SNOMEDCT:48117007 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5702 name: Trypanosoma brucei brucei namespace: ncbi_taxonomy synonym: "Trypanosoma (Trypanozoon) brucei brucei" EXACT synonym [] xref: MeSH:D014346 xref: SNOMEDCT:74238009 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:57045 name: Salmonella enterica subsp. enterica serovar Paratyphi B namespace: ncbi_taxonomy synonym: "Salmonella paratyphi B" EXACT synonym [] xref: MeSH:D012484 xref: SNOMEDCT:85908006 is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:57046 name: Salmonella enterica subsp. enterica serovar Paratyphi C namespace: ncbi_taxonomy synonym: "Salmonella paratyphi C" EXACT synonym [] xref: MeSH:D012479 xref: SNOMEDCT:32488009 is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:570508 name: Helicobacter pylori P12 namespace: ncbi_taxonomy synonym: "Helicobacter pylori str. P12" EXACT equivalent_name [] synonym: "Helicobacter pylori strain P12" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:57161 name: Nectria rigidiuscula namespace: ncbi_taxonomy synonym: "Fusarium decemcellulare" EXACT anamorph [] is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5722 name: Trichomonas vaginalis namespace: ncbi_taxonomy synonym: "Tritrichomonas vaginalis" EXACT synonym [] xref: MeSH:D014246 xref: SNOMEDCT:22417000 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:573 name: Klebsiella pneumoniae namespace: ncbi_taxonomy synonym: "Bacillus pneumoniae" EXACT synonym [] synonym: "Bacterium pneumoniae crouposae" EXACT synonym [] synonym: "Hyalococcus pneumoniae" EXACT synonym [] xref: MeSH:D007711 xref: NCIt:C86457 xref: SNOMEDCT:56415008 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:57329 name: Piriqueta cistoides subsp. caroliniana namespace: ncbi_taxonomy synonym: "Piriqueta caroliniana" EXACT synonym [] synonym: "Piriqueta glabrescens" EXACT synonym [] synonym: "pitted stripeseed" EXACT common_name [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5741 name: Giardia intestinalis namespace: ncbi_taxonomy synonym: "Giardia duodenalis" EXACT synonym [] synonym: "Giardia lamblia" EXACT genbank_synonym [] synonym: "Lamblia intestinalis" EXACT synonym [] xref: MeSH:D016829 xref: SNOMEDCT:19122007 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:57482 name: European bat lyssavirus 1 namespace: ncbi_taxonomy synonym: "European bat lyssavirus type 1" EXACT synonym [] synonym: "European bat virus 1" EXACT synonym [] xref: SNOMEDCT:450805000 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:57483 name: European bat lyssavirus 2 namespace: ncbi_taxonomy synonym: "European bat lyssavirus type 2" EXACT synonym [] synonym: "European bat virus 2" EXACT synonym [] xref: SNOMEDCT:450806004 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5759 name: Entamoeba histolytica namespace: ncbi_taxonomy xref: MeSH:D004748 xref: SNOMEDCT:4716008 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5762 name: Naegleria gruberi namespace: ncbi_taxonomy xref: SNOMEDCT:3522009 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:57678 name: Leptospira interrogans serovar Lai namespace: ncbi_taxonomy is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5786 name: Dictyostelium purpureum namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5791 name: Physarum polycephalum namespace: ncbi_taxonomy xref: MeSH:D016839 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:57975 name: Burkholderia thailandensis namespace: ncbi_taxonomy synonym: "Burkholderia pseudomallei-like species" EXACT synonym [] xref: SNOMEDCT:113678002 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:58031 name: Cycas rumphii namespace: ncbi_taxonomy is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:58095 name: Salmonella enterica subsp. enterica serovar Agona namespace: ncbi_taxonomy synonym: "Salmonella agona" EXACT synonym [] xref: SNOMEDCT:80627004 is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5811 name: Toxoplasma gondii namespace: ncbi_taxonomy xref: SNOMEDCT:4649006 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5821 name: Plasmodium berghei namespace: ncbi_taxonomy xref: MeSH:D010962 xref: SNOMEDCT:42941001 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5833 name: Plasmodium falciparum namespace: ncbi_taxonomy synonym: "malaria parasite P. falciparum" EXACT common_name [] synonym: "Plasmodium (Laverania) falciparum" EXACT synonym [] xref: MeSH:D010963 xref: SNOMEDCT:30020004 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:584 name: Proteus mirabilis namespace: ncbi_taxonomy synonym: "Proteus mirabilis Hauser 1885" EXACT synonym [] xref: MeSH:D011513 xref: NCIt:C86019 xref: SNOMEDCT:73457008 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5850 name: Plasmodium knowlesi namespace: ncbi_taxonomy xref: MeSH:D016790 xref: SNOMEDCT:49918008 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5855 name: Plasmodium vivax namespace: ncbi_taxonomy synonym: "malaria parasite P. vivax" EXACT common_name [] xref: MeSH:D010966 xref: SNOMEDCT:74746009 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5861 name: Plasmodium yoelii namespace: ncbi_taxonomy synonym: "Plasmodium yoelli" EXACT synonym [] xref: MeSH:D010967 xref: SNOMEDCT:68535004 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5875 name: Theileria parva namespace: ncbi_taxonomy xref: MeSH:D016797 xref: SNOMEDCT:75445002 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5888 name: Paramecium tetraurelia namespace: ncbi_taxonomy synonym: "Paramecium aurelia syngen 4" EXACT synonym [] xref: MeSH:D016805 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:590 name: Salmonella namespace: ncbi_taxonomy synonym: "Samonella" EXACT misspelling [] xref: MeSH:D012475 xref: NCIt:C76380 xref: SNOMEDCT:27268008 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5911 name: Tetrahymena thermophila namespace: ncbi_taxonomy xref: MeSH:D016808 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:59201 name: Salmonella enterica subsp. enterica namespace: ncbi_taxonomy synonym: "Salmonella cholerae-suis subsp. cholerae-suis" EXACT synonym [] synonym: "Salmonella choleraesuis subsp. choleraesuis" EXACT synonym [] synonym: "Salmonella enterica I" EXACT synonym [] synonym: "Salmonella enterica subsp. I" EXACT synonym [] xref: SNOMEDCT:398508004 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:59207 name: Salmonella enterica subsp. indica namespace: ncbi_taxonomy synonym: "Salmonella choleraesuis subsp. indica" EXACT synonym [] synonym: "Salmonella enterica subsp. VI" EXACT synonym [] synonym: "Salmonella enterica VI" EXACT synonym [] xref: SNOMEDCT:398620001 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:59312 name: Sarcophaga crassipalpis namespace: ncbi_taxonomy synonym: "Liopygia crassipalpis" EXACT synonym [] synonym: "Parasarcophaga crassipalpis" EXACT synonym [] synonym: "Sarcophaga (Liopygia) crassipalpis" EXACT synonym [] synonym: "Sarcophaga (Parasarcophaga) crassipalpis" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:5932 name: Ichthyophthirius multifiliis namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:594 name: Salmonella enterica subsp. enterica serovar Gallinarum namespace: ncbi_taxonomy synonym: "Salmonella enterica serovar Gallinarum" EXACT synonym [] synonym: "Salmonella gallinarum" EXACT synonym [] xref: SNOMEDCT:370576005 is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:595 name: Salmonella enterica subsp. enterica serovar Infantis namespace: ncbi_taxonomy synonym: "Salmonella infantis" EXACT synonym [] xref: SNOMEDCT:82071007 is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:596 name: Salmonella enterica subsp. enterica serovar Muenchen namespace: ncbi_taxonomy synonym: "Salmonella muenchen" EXACT synonym [] xref: SNOMEDCT:77584005 is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:59689 name: Arabidopsis lyrata namespace: ncbi_taxonomy synonym: "Arabidopsis lyrata (L.) O'Kane & Al-Shehbaz" EXACT synonym [] synonym: "lyrate rockcress" EXACT common_name [] is_a: NCBITaxon:3701 ! Arabidopsis property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:59691 name: Arabidopsis lyrata subsp. petraea namespace: ncbi_taxonomy synonym: "Arabidopsis lyrata subsp. petraea (L.) O'Kane & Al-Shehbaz" EXACT synonym [] synonym: "Arabidopsis petraea" EXACT synonym [] synonym: "Arabidopsis petraea (L.) V.I.Dorof." EXACT synonym [] synonym: "Cardaminopsis petraea" EXACT synonym [] synonym: "Cardaminopsis petraea (L.) Hiitonen" EXACT synonym [] is_a: NCBITaxon:59689 ! Arabidopsis lyrata property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:59729 name: Taeniopygia guttata namespace: ncbi_taxonomy synonym: "Poephila guttata" EXACT synonym [] synonym: "Taenopygia guttata" EXACT synonym [] synonym: "zebra finch" EXACT common_name [] xref: SNOMEDCT:448859007 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:59861 name: Coregonus clupeaformis namespace: ncbi_taxonomy synonym: "Coregonus clupeaformis (Mitchill, 1818)" EXACT synonym [] synonym: "lake whitefish" EXACT common_name [] xref: SNOMEDCT:33175005 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:59919 name: Prochlorococcus marinus subsp. pastoris str. CCMP1986 namespace: ncbi_taxonomy synonym: "Prochlorococcus marinus MED4" EXACT genbank_synonym [] synonym: "Prochlorococcus marinus sp. MED4" EXACT misspelling [] synonym: "Prochlorococcus marinus subsp. pastoris str. CCMP1378" EXACT synonym [] synonym: "Prochlorococcus sp. CCMP1378" EXACT synonym [] synonym: "Prochlorococcus sp. MED4" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:600 name: Salmonella enterica subsp. enterica serovar Thompson namespace: ncbi_taxonomy synonym: "Salmonella thompson" EXACT synonym [] xref: SNOMEDCT:4361005 is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:60134 name: Penicillium viridicatum namespace: ncbi_taxonomy xref: SNOMEDCT:34886002 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:605 name: Salmonella enterica subsp. enterica serovar Pullorum namespace: ncbi_taxonomy synonym: "Salmonella pullorum" EXACT synonym [] xref: SNOMEDCT:20855009 is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:60520 name: Lactobacillus paraplantarum namespace: ncbi_taxonomy synonym: "Lactobacillus paraplantarum Curk et al. 1996" EXACT synonym [] xref: SNOMEDCT:113796002 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:60711 name: Chlorocebus sabaeus namespace: ncbi_taxonomy synonym: "Cercopithecus aethiops sabaeus" EXACT synonym [] synonym: "Cercopithecus sabaeus" EXACT genbank_synonym [] synonym: "Cercopithecus sabeus" EXACT synonym [] synonym: "Chlorocebus aethiops sabaeus" EXACT synonym [] synonym: "green monkey" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:611 name: Salmonella enterica subsp. enterica serovar Heidelberg namespace: ncbi_taxonomy synonym: "Salmonella heidelberg" EXACT synonym [] xref: SNOMEDCT:71865006 is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:61235 name: Fusarium equiseti namespace: ncbi_taxonomy synonym: "Fusarium scirpi" EXACT synonym [] xref: SNOMEDCT:32095005 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:6131 name: Acropora palmata namespace: ncbi_taxonomy synonym: "elkhorn coral" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:61362 name: Acanthopleura namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:61434 name: Dehalococcoides namespace: ncbi_taxonomy is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:6182 name: Schistosoma japonicum namespace: ncbi_taxonomy xref: MeSH:D012549 xref: SNOMEDCT:5249008 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:6183 name: Schistosoma mansoni namespace: ncbi_taxonomy xref: MeSH:D012550 xref: SNOMEDCT:11168007 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:623 name: Shigella flexneri namespace: ncbi_taxonomy synonym: "Shigella paradysenteriae" EXACT synonym [] xref: ICD9:004.1 xref: MeSH:D012763 xref: NCIt:C86746 xref: SNOMEDCT:85729005 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:62324 name: Anopheles funestus namespace: ncbi_taxonomy synonym: "African malaria mosquito" EXACT common_name [] xref: SNOMEDCT:20477000 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:6237 name: Caenorhabditis xref: MeSH:D002107 xref: SNOMEDCT:83327008 is_a: NCBITaxon:2759 ! Eukaryota [Term] id: NCBITaxon:6238 name: Caenorhabditis briggsae namespace: ncbi_taxonomy is_a: NCBITaxon:6237 ! Caenorhabditis property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:6239 name: Caenorhabditis elegans namespace: ncbi_taxonomy synonym: "nematode" EXACT common_name [] synonym: "Rhabditis elegans" EXACT synonym [] xref: BTO:0002274 xref: MeSH:D017173 xref: NCIt:C14303 xref: SNOMEDCT:61889003 is_a: NCBITaxon:6237 ! Caenorhabditis property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: NCBITaxon:624 name: Shigella sonnei namespace: ncbi_taxonomy synonym: "Bacterium sonnei" EXACT synonym [] xref: ICD9:004.3 xref: MeSH:D012764 xref: NCIt:C86747 xref: SNOMEDCT:4298009 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:62690 name: Blumeria graminis f. sp. tritici def: "Blumeria graminis forma specialis tritici is a fungal pathogen of the Blumeria genus that causes powdery mildew on wheat." [] is_a: NCBITaxon:4890 ! Ascomycota property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:6279 name: Brugia malayi namespace: ncbi_taxonomy synonym: "agent of lymphatic filariasis" EXACT common_name [] xref: MeSH:D017178 xref: SNOMEDCT:112443002 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:6280 name: Brugia pahangi namespace: ncbi_taxonomy xref: MeSH:D017179 xref: SNOMEDCT:46172004 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:6287 name: Dirofilaria immitis namespace: ncbi_taxonomy synonym: "canine heartworm nematode" EXACT common_name [] synonym: "dog heartworm nematode" EXACT common_name [] xref: MeSH:D004183 xref: SNOMEDCT:90540004 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:6289 name: Haemonchus contortus namespace: ncbi_taxonomy synonym: "barber pole worm" EXACT common_name [] synonym: "red stomach worm" EXACT common_name [] xref: SNOMEDCT:61796008 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:630 name: Yersinia enterocolitica namespace: ncbi_taxonomy synonym: "Bacterium enterocoliticum" EXACT synonym [] xref: MeSH:D015008 xref: NCIt:C86855 xref: SNOMEDCT:65255000 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:632 name: Yersinia pestis namespace: ncbi_taxonomy synonym: "Bacillus pestis" EXACT synonym [] synonym: "Bacterium pestis" EXACT synonym [] synonym: "Pasteurella pestis" EXACT synonym [] synonym: "Pestisella pestis" EXACT synonym [] synonym: "Yersinia pseudotuberculosis subsp. pestis" EXACT synonym [] xref: MeSH:D015010 xref: NCIt:C86860 xref: SNOMEDCT:54365000 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:633 name: Yersinia pseudotuberculosis namespace: ncbi_taxonomy synonym: "Bacillus pseudotuberkulosis" EXACT synonym [] synonym: "Bacterium pseudotuberculosis" EXACT synonym [] synonym: "Pasteurella pseudotuberculosis" EXACT synonym [] synonym: "Shigella pseudotuberculosis" EXACT synonym [] xref: MeSH:D015011 xref: NCIt:C86861 xref: SNOMEDCT:90530002 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:6339 name: Heligmosomoides polygyrus namespace: ncbi_taxonomy def: "Heligmosomoides polygyrus, previously named Nematospiroides dubius, is a naturally occurring intestinal roundworm of rodents. It belongs to the family Trychostrongylidae, and male and female worms are morphologically distinguishable. The parasite has a direct life cycle with its larval form being the infective stage. H. polygyrus has the ability to establish chronic infections in rodents and alter host immune responses. This nematode is widely used as a gastrointestinal parasitic model in immunological, pharmacological and toxicological studies." [] synonym: "Nematospiroides dubius" EXACT [] xref: GC_ID:1 xref: Wikipedia:Heligmosomoides_polygyrus is_a: EO:0007337 ! Nematoda [Term] id: NCBITaxon:63400 name: Arthroderma benhamiae namespace: ncbi_taxonomy xref: SNOMEDCT:84827008 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:63402 name: Arthroderma gypseum namespace: ncbi_taxonomy synonym: "Nannizzia gypsea" EXACT synonym [] xref: SNOMEDCT:27771001 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:63405 name: Arthroderma otae namespace: ncbi_taxonomy synonym: "Microsporum canis" EXACT anamorph [] synonym: "Nannizzia otae" EXACT synonym [] xref: SNOMEDCT:36912005 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:63416 name: obsolete_Trichophyton megninii namespace: ncbi_taxonomy xref: SNOMEDCT:76479006 property_value: has_rank NCBITaxon:species property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.81" xsd:string property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "NCBITaxon_63416 obsoleted in favour of NCBITaxon_5551 Trichophyton rubrum " xsd:string property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string property_value: organizational:class "true" xsd:string is_obsolete: true replaced_by: http://purl.obolibrary.org/obo/NCBITaxon_5551 [Term] id: NCBITaxon:63417 name: Trichophyton verrucosum namespace: ncbi_taxonomy xref: SNOMEDCT:26601004 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:63577 name: Trichoderma atroviride namespace: ncbi_taxonomy synonym: "Trichoderma atraviride" EXACT misspelling [] is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:6390 name: Enchytraeus albidus namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:6396 name: Eisenia fetida namespace: ncbi_taxonomy synonym: "brandling worm" EXACT common_name [] synonym: "common brandling worm" EXACT common_name [] synonym: "common dung-worm" EXACT common_name [] synonym: "Eisenia fetida (Savigny, 1826)" EXACT synonym [] synonym: "Eisenia fetidea" EXACT misspelling [] synonym: "Eisenia foetida" EXACT synonym [] synonym: "red wiggler worm" EXACT common_name [] synonym: "redworm" EXACT common_name [] synonym: "tiger worm" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:64091 name: Halobacterium sp. NRC-1 namespace: ncbi_taxonomy synonym: "Halobacterium salinarum NRC-1" EXACT equivalent_name [] synonym: "Halobacterium salinarum str. NRC-1" EXACT equivalent_name [] synonym: "Halobacterium salinarum strain NRC-1" EXACT equivalent_name [] synonym: "Halobacterium sp. (strain NRC-1 / ATCC 700922 / JCM 11081)" EXACT synonym [] synonym: "Halobacterium sp. (strain NRC-1)" EXACT synonym [] synonym: "Halobacterium sp. ATCC 700922" EXACT synonym [] synonym: "Halobacterium sp. JCM 11081" EXACT synonym [] is_a: NCBITaxon:2157 ! Archaea property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:64187 name: Xanthomonas oryzae pv. oryzae namespace: ncbi_taxonomy synonym: "Xanthomonas campestris pv. oryza" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:64315 name: Rocio virus namespace: ncbi_taxonomy xref: SNOMEDCT:71518008 is_a: NCBITaxon:10239 ! Virus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:64471 name: Synechococcus sp. CC9311 namespace: ncbi_taxonomy is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:64531 name: Heliconius erato petiverana namespace: ncbi_taxonomy synonym: "Heliconius petiverana" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:64684 name: Buchnera sp. namespace: ncbi_taxonomy is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:6500 name: Aplysia californica namespace: ncbi_taxonomy synonym: "California sea hare" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:65016 name: Cyanophage S-BnM1 namespace: ncbi_taxonomy is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:65071 name: Pythium ultimum namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:6526 name: Biomphalaria glabrata namespace: ncbi_taxonomy synonym: "bloodfluke planorb" EXACT common_name [] xref: SNOMEDCT:24035004 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:6549 name: Mytilus californianus namespace: ncbi_taxonomy synonym: "California mussel" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:6551 name: Mytilus trossulus namespace: ncbi_taxonomy synonym: "bay mussel" EXACT common_name [] synonym: "common blue mussel" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:6565 name: Crassostrea virginica namespace: ncbi_taxonomy synonym: "Crassotrea virginica" EXACT misspelling [] synonym: "eastern oyster" EXACT common_name [] xref: NCIt:C85050 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:65672 name: Piriformospora indica namespace: ncbi_taxonomy synonym: "Achlamydospora indica" EXACT synonym [] synonym: "Achlamydospora indicum" EXACT synonym [] synonym: "fungal endophyte pNS1-2" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:65951 name: Rorippa amphibia namespace: ncbi_taxonomy is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:65952 name: Rorippa sylvestris namespace: ncbi_taxonomy synonym: "Rorippa silvestre" EXACT misspelling [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:66269 name: Pantoea stewartii namespace: ncbi_taxonomy synonym: "Pantoea stewartii (Smith 1898) Mergaert et al. 1993" EXACT synonym [] xref: SNOMEDCT:131300002 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:663 name: Vibrio alginolyticus namespace: ncbi_taxonomy synonym: "Beneckea alginolytica" EXACT synonym [] synonym: "Oceanomonas alginolytica" EXACT synonym [] synonym: "Pseudomonas creosotensis" EXACT synonym [] xref: MeSH:D044149 xref: NCIt:C86840 xref: SNOMEDCT:45749000 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:6656 name: Arthropoda def: "An arthropod (from Greek arthro-, joint + podos, foot) is an invertebrate animal having an exoskeleton (external skeleton), a segmented body, and jointed appendages. Arthropods form the phylum Arthropoda, and include the insects, arachnids, myriapods, and crustaceans." [] synonym: "arthropods" EXACT [] xref: Wikipedia:Arthropod is_a: NCBITaxon:33208 ! Metazoa property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:666 name: Vibrio cholerae namespace: ncbi_taxonomy synonym: "Bacillo virgola del Koch" EXACT synonym [] synonym: "Bacillus cholerae" EXACT synonym [] synonym: "Bacillus cholerae-asiaticae" EXACT synonym [] synonym: "Kommabacillus" EXACT synonym [] synonym: "Liquidivibrio cholerae" EXACT synonym [] synonym: "Microspira comma" EXACT synonym [] synonym: "Pacinia cholerae-asiaticae" EXACT synonym [] synonym: "Spirillum cholerae" EXACT synonym [] synonym: "Spirillum cholerae-asiaticae" EXACT synonym [] synonym: "Vibrio choleae" EXACT misspelling [] synonym: "Vibrio cholera" EXACT synonym [] synonym: "Vibrio cholerae-asiaticae" EXACT synonym [] synonym: "Vibrio comma" EXACT synonym [] xref: MeSH:D014734 xref: NCIt:C86841 xref: SNOMEDCT:75953000 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:6669 name: Daphnia pulex namespace: ncbi_taxonomy synonym: "common water flea" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:6687 name: Penaeus monodon namespace: ncbi_taxonomy synonym: "black tiger shrimp" EXACT common_name [] synonym: "giant tiger prawn" EXACT common_name [] synonym: "Penaeus (Penaeus) monodon" EXACT synonym [] synonym: "tiger prawn" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:6689 name: Litopenaeus vannamei namespace: ncbi_taxonomy synonym: "Pacific white shrimp" EXACT common_name [] synonym: "Penaeus (Litopenaeus) vannamei" EXACT synonym [] synonym: "Penaeus vanameii" EXACT misspelling [] synonym: "Penaeus vannamei" EXACT synonym [] synonym: "Penaeus vannameii" EXACT misspelling [] synonym: "white shrimp" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:670 name: Vibrio parahaemolyticus namespace: ncbi_taxonomy synonym: "Beneckea parahaemolytica" EXACT synonym [] synonym: "Oceanomonas parahaemolytica" EXACT synonym [] synonym: "Pasteurella parahaemolytica" EXACT synonym [] synonym: "Vibrio parahemolyticus" EXACT misspelling [] xref: MeSH:D014736 xref: NCIt:C86846 xref: SNOMEDCT:11736008 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:672 name: Vibrio vulnificus namespace: ncbi_taxonomy synonym: "Beneckea vulnifica" EXACT synonym [] xref: MeSH:D041261 xref: NCIt:C86847 xref: SNOMEDCT:55905000 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:67367 name: Streptomyces tanashiensis namespace: ncbi_taxonomy synonym: "Streptomyces tanaschiensis" EXACT equivalent_name [] synonym: "Streptomyces tanaschimachiensis" EXACT equivalent_name [] synonym: "Streptomyces tanashiensis Hata et al. 1952" EXACT synonym [] xref: SNOMEDCT:437840005 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:6759 name: Carcinus maenas namespace: ncbi_taxonomy synonym: "common shore crab" EXACT common_name [] synonym: "green crab" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:67593 name: Phytophthora sojae namespace: ncbi_taxonomy synonym: "Phytophthora megasperma f. sp. glycinea" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:67606 name: Drechslera sp. namespace: ncbi_taxonomy is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:67771 name: Callipepla californica namespace: ncbi_taxonomy synonym: "California quail" EXACT common_name [] synonym: "Lophortyx californica" EXACT synonym [] xref: SNOMEDCT:88526001 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:67825 name: Citrobacter rodentium namespace: ncbi_taxonomy synonym: "Citrobacter genomospecies 9" EXACT synonym [] synonym: "Citrobacter sp. biovar 4280" EXACT synonym [] xref: MeSH:D044082 xref: SNOMEDCT:114444007 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:6819 name: Euphausia superba namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:68892 name: Streptococcus infantis namespace: ncbi_taxonomy xref: SNOMEDCT:415604001 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:69293 name: Gasterosteus aculeatus namespace: ncbi_taxonomy synonym: "Gasterosteus aculeatus Linnaeus, 1758" EXACT synonym [] synonym: "three spined stickleback" EXACT common_name [] synonym: "three-spined stickleback" EXACT common_name [] xref: SNOMEDCT:17370001 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:6941 name: Rhipicephalus microplus namespace: ncbi_taxonomy synonym: "Boophilus microplus" EXACT genbank_synonym [] synonym: "cattle tick" EXACT common_name [] synonym: "Rhipicephalus (Boophilus) microplus" EXACT synonym [] synonym: "southern cattle tick" EXACT common_name [] xref: SNOMEDCT:74706003 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:6943 name: Amblyomma americanum namespace: ncbi_taxonomy synonym: "Haemalastor americanus" EXACT synonym [] synonym: "lone star tick" EXACT common_name [] xref: SNOMEDCT:54089000 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:6945 name: Ixodes scapularis namespace: ncbi_taxonomy synonym: "black-legged tick" EXACT common_name [] synonym: "blacklegged tick" EXACT common_name [] synonym: "deer tick" EXACT common_name [] synonym: "Ixodes dammini" EXACT synonym [] synonym: "shoulder tick" EXACT common_name [] xref: SNOMEDCT:76387006 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:69891 name: Trichophyton soudanense namespace: ncbi_taxonomy xref: SNOMEDCT:4983002 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:69892 name: Microsporum gallinae namespace: ncbi_taxonomy xref: SNOMEDCT:13862003 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7004 name: Locusta migratoria namespace: ncbi_taxonomy synonym: "migratory locust" EXACT common_name [] xref: MeSH:D048188 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:70095 name: Penicillium fellutanum namespace: ncbi_taxonomy is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7010 name: Schistocerca gregaria namespace: ncbi_taxonomy synonym: "desert locust" EXACT common_name [] synonym: "Locusta gregaria" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7029 name: Acyrthosiphon pisum namespace: ncbi_taxonomy synonym: "Acyrhosiphum pisum" EXACT misspelling [] synonym: "Acyrthosiphum pisum" EXACT synonym [] synonym: "pea aphid" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7038 name: Bemisia tabaci namespace: ncbi_taxonomy synonym: "Aleyrodes tabaci" EXACT synonym [] synonym: "sweet potato whitefly" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:70448 name: Ostreococcus tauri namespace: ncbi_taxonomy is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7070 name: Tribolium castaneum namespace: ncbi_taxonomy synonym: "red flour beetle" EXACT common_name [] synonym: "rust-red flour beetle" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:70784 name: Julidochromis transcriptus namespace: ncbi_taxonomy synonym: "masked julie" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:70792 name: Penicillium corylophilum namespace: ncbi_taxonomy is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:70863 name: Shewanella oneidensis namespace: ncbi_taxonomy synonym: "Shewanella oneidensis Venkateswaran et al. 1999" EXACT synonym [] xref: SNOMEDCT:440288002 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7091 name: Bombyx mori namespace: ncbi_taxonomy synonym: "Bombyx mori Linnaeus, 1758" EXACT synonym [] synonym: "domestic silkworm" EXACT common_name [] synonym: "silk moth" EXACT common_name [] synonym: "silkworm" EXACT common_name [] xref: SNOMEDCT:56535007 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7108 name: Spodoptera frugiperda namespace: ncbi_taxonomy synonym: "fall armyworm" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:71139 name: Eucalyptus grandis namespace: ncbi_taxonomy synonym: "rose gum" EXACT common_name [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:71150 name: Paxillus involutus namespace: ncbi_taxonomy xref: SNOMEDCT:82274007 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7130 name: Manduca sexta namespace: ncbi_taxonomy synonym: "Carolina sphinx" EXACT common_name [] synonym: "hornblower" EXACT common_name [] synonym: "tobacco hawkmoth" EXACT common_name [] synonym: "tobacco hornworm" EXACT common_name [] synonym: "tomato hornworm" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:714 name: Aggregatibacter actinomycetemcomitans namespace: ncbi_taxonomy synonym: "Actinobacillus (Haemophilus) actinomycetemcomitans" EXACT synonym [] synonym: "Actinobacillus actinomycetemcomi" EXACT misspelling [] synonym: "Actinobacillus actinomycetemcomitans" EXACT synonym [] synonym: "Bacterium acetinomycetum comitans" EXACT synonym [] synonym: "Bacterium actinomycetem comitans" EXACT synonym [] synonym: "Bacterium comitans" EXACT synonym [] synonym: "Haemophilus actinomycetemcomitans" EXACT synonym [] synonym: "Haemophilus actinomyceticomitans" EXACT synonym [] xref: MeSH:D016976 xref: NCIt:C86133 xref: SNOMEDCT:442680008 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7141 name: Choristoneura fumiferana namespace: ncbi_taxonomy synonym: "spruce budworm" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:71412 name: Fenneropenaeus merguiensis namespace: ncbi_taxonomy synonym: "Penaeus (Fenneropenaeus) merguiensis" EXACT synonym [] synonym: "Penaeus merguiensis" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:715 name: Actinobacillus pleuropneumoniae namespace: ncbi_taxonomy synonym: "Actinobacillus pleuropneumonia" EXACT misspelling [] synonym: "Haemophilus pleuropneumoniae" EXACT synonym [] xref: MeSH:D016977 xref: NCIt:C86101 xref: SNOMEDCT:116382001 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7159 name: Aedes aegypti namespace: ncbi_taxonomy synonym: "Stegomyia aegypti" EXACT synonym [] synonym: "yellow fever mosquito" EXACT common_name [] xref: SNOMEDCT:55488006 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7160 name: Aedes albopictus namespace: ncbi_taxonomy synonym: "Asian tiger mosquito" EXACT common_name [] synonym: "forest day mosquito" EXACT common_name [] synonym: "Stegomyia albopicta" EXACT synonym [] xref: SNOMEDCT:71803001 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:71647 name: Pinus pinaster namespace: ncbi_taxonomy synonym: "cluster pine" EXACT common_name [] synonym: "maritime pine" EXACT common_name [] synonym: "non Pinus laricio Poir., 1804" EXACT synonym [] synonym: "Pinus laricio Savi, 1798" EXACT synonym [] synonym: "Pinus maritima" EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7165 name: Anopheles gambiae namespace: ncbi_taxonomy synonym: "African malaria mosquito" EXACT common_name [] synonym: "Anopheles gambia" EXACT misspelling [] synonym: "Anopheles gambiae Giles, 1902" EXACT synonym [] synonym: "Anopheles gambiae sensu stricto" EXACT equivalent_name [] xref: MeSH:D048169 xref: SNOMEDCT:3065002 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7173 name: Anopheles arabiensis namespace: ncbi_taxonomy synonym: "Southern African malaria mosquito" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7176 name: Culex quinquefasciatus namespace: ncbi_taxonomy synonym: "Culex pipiens quinquefasciatus" EXACT synonym [] synonym: "Culex pipiens quiquefasciatus" EXACT misspelling [] synonym: "Culex quinquifasciatus" EXACT misspelling [] synonym: "Culex quinquifasiatus" EXACT misspelling [] synonym: "Culex quiquefasciatus" EXACT misspelling [] synonym: "southern house mosquito" EXACT common_name [] xref: SNOMEDCT:69266002 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:72036 name: Lepeophtheirus salmonis namespace: ncbi_taxonomy synonym: "salmon louse" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:72085 name: Sebastes melanops namespace: ncbi_taxonomy synonym: "black rockfish" EXACT common_name [] synonym: "Sebastes melanops Girard, 1856" EXACT synonym [] xref: SNOMEDCT:25120007 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7213 name: Ceratitis capitata namespace: ncbi_taxonomy synonym: "Ceratitis capitata (Wiedemann, 1824)" EXACT synonym [] synonym: "Mediterranean fruit fly" EXACT common_name [] xref: MeSH:D033622 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7215 name: Drosophila namespace: ncbi_taxonomy synonym: "Drosophila Fallen, 1823" EXACT synonym [] synonym: "fruit flies" EXACT common_name [] xref: MeSH:D004330 xref: NCIt:C14202 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7217 name: Drosophila ananassae namespace: ncbi_taxonomy synonym: "Drosophila annanassae" EXACT synonym [] is_a: NCBITaxon:7215 ! Drosophila property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7220 name: Drosophila erecta namespace: ncbi_taxonomy is_a: NCBITaxon:7215 ! Drosophila property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7226 name: Drosophila mauritiana namespace: ncbi_taxonomy is_a: NCBITaxon:7215 ! Drosophila property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7227 name: Drosophila melanogaster namespace: ncbi_taxonomy synonym: "Drosophila melangaster" EXACT misspelling [] synonym: "fruit fly" EXACT common_name [] xref: MeSH:D004331 is_a: NCBITaxon:7215 ! Drosophila property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: NCBITaxon:7230 name: Drosophila mojavensis namespace: ncbi_taxonomy synonym: "Drosophila mohavensis" EXACT synonym [] is_a: NCBITaxon:7215 ! Drosophila property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7234 name: Drosophila persimilis namespace: ncbi_taxonomy is_a: NCBITaxon:7215 ! Drosophila property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7237 name: Drosophila pseudoobscura namespace: ncbi_taxonomy is_a: NCBITaxon:7215 ! Drosophila property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7238 name: Drosophila sechellia namespace: ncbi_taxonomy synonym: "Drosophila sechellia Tsacas and Bachli, 1981" EXACT synonym [] is_a: NCBITaxon:7215 ! Drosophila property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7240 name: Drosophila simulans namespace: ncbi_taxonomy is_a: NCBITaxon:7215 ! Drosophila property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: NCBITaxon:7243 name: Drosophila teissieri namespace: ncbi_taxonomy synonym: "Drosophila teisseri" EXACT misspelling [] synonym: "Drosophila teissieri Tsacas, 1971" EXACT synonym [] is_a: NCBITaxon:7215 ! Drosophila property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7244 name: Drosophila virilis namespace: ncbi_taxonomy synonym: "Drosophila irilis" EXACT misspelling [] synonym: "Drosophila virilis Sturtevant, 1916" EXACT synonym [] is_a: NCBITaxon:7215 ! Drosophila property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7245 name: Drosophila yakuba namespace: ncbi_taxonomy is_a: NCBITaxon:7215 ! Drosophila property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:72600 name: Calyptogena kilmeri gill symbiont namespace: ncbi_taxonomy synonym: "Calyptogena kilmeri endosymbiont" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:72603 name: Calyptogena pacifica gill symbiont namespace: ncbi_taxonomy is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:727 name: Haemophilus influenzae namespace: ncbi_taxonomy synonym: "Bacterium influenzae" EXACT synonym [] synonym: "Coccobacillus pfeifferi" EXACT synonym [] synonym: "Haemophilus meningitidis" EXACT synonym [] synonym: "Influenza-bacillus" EXACT synonym [] synonym: "Mycobacterium influenzae" EXACT synonym [] xref: MeSH:D006193 xref: NCIt:C86431 xref: SNOMEDCT:44470000 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:72740 name: Sporisorium reilianum f. sp. zeae def: "Sporisorium reilianum f. sp. zeae is a fungus (Basidiomycota, Ustilaginaceae) that causes head smut of corn (Zea mays L.)." [] xref: PMID:21156521 is_a: NCBITaxon:4751 ! Fungi property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:730 name: Haemophilus ducreyi namespace: ncbi_taxonomy synonym: "Bacillus ulceris cancrosi" EXACT synonym [] synonym: "Coccobacillus ducreyi" EXACT synonym [] xref: MeSH:D006191 xref: SNOMEDCT:64889004 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:731 name: Histophilus somni namespace: ncbi_taxonomy synonym: "Haemophilus agni" EXACT synonym [] synonym: "Haemophilus agni" EXACT synonym [NCBITaxonRef:Kennedy_et_al._1958] synonym: "Haemophilus ovis" EXACT synonym [NCBITaxonRef:Mitchell_1925] synonym: "Haemophilus ovis" EXACT synonym [] synonym: "Haemophilus somnifer" EXACT synonym [] synonym: "Haemophilus somnifer" EXACT synonym [NCBITaxonRef:Miles_et_al._1972] synonym: "Haemophilus somnus" EXACT synonym [] synonym: "Haemophilus somnus" EXACT synonym [NCBITaxonRef:sic_Bailie_1969] synonym: "Hemophilus agni" EXACT synonym [] synonym: "Hemophilus somnus" EXACT misspelling [] synonym: "Histophilus ovis" EXACT synonym [] synonym: "Histophilus ovis" EXACT synonym [NCBITaxonRef:Roberts_1956] synonym: "Histophilus somni Angen et al. 2003" EXACT synonym [] xref: MeSH:D044138 xref: NCIt:C86441 xref: SNOMEDCT:433940005 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:73501 name: Cordyceps militaris namespace: ncbi_taxonomy xref: SNOMEDCT:34557008 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7368 name: Haematobia irritans namespace: ncbi_taxonomy synonym: "Haematobia iritans" EXACT misspelling [] synonym: "Haematobia irritans (Linnaeus, 1758)" EXACT synonym [] synonym: "horn fly" EXACT common_name [] synonym: "Lyperosia irritans" EXACT synonym [] xref: SNOMEDCT:19478004 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:73824 name: Populus balsamifera namespace: ncbi_taxonomy synonym: "balsam poplar" EXACT common_name [] synonym: "hackmatack" EXACT common_name [] synonym: "Populus balsamifera L." EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:74035 name: Arthroderma uncinatum namespace: ncbi_taxonomy synonym: "Trichophyton ajelloi" EXACT genbank_anamorph [] xref: SNOMEDCT:24965006 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:74109 name: Photobacterium profundum namespace: ncbi_taxonomy synonym: "Photobacterium profundum Nogi et al. 1998" EXACT synonym [] xref: SNOMEDCT:432891001 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7425 name: Nasonia vitripennis namespace: ncbi_taxonomy synonym: "jewel wasp" EXACT common_name [] synonym: "Nasonia vitripennis (Walker, 1836)" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:74546 name: Prochlorococcus marinus str. MIT 9312 namespace: ncbi_taxonomy synonym: "Prochlorococcus sp. MIT 9312" EXACT synonym [] synonym: "Prochlorococcus sp. MIT9312" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:74547 name: Prochlorococcus marinus str. MIT 9313 namespace: ncbi_taxonomy synonym: "Prochlorococcus marinus MIT9313" EXACT synonym [] synonym: "Prochlorococcus sp. MIT 9313" EXACT synonym [] synonym: "Prochlorococcus sp. MIT9313" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7460 name: Apis mellifera namespace: ncbi_taxonomy synonym: "Apis mellifica" EXACT synonym [] synonym: "bee" EXACT common_name [] synonym: "honey bee" EXACT common_name [] synonym: "honeybee" EXACT common_name [] xref: SNOMEDCT:46266008 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7461 name: Apis cerana namespace: ncbi_taxonomy synonym: "Apis cerena" EXACT misspelling [] synonym: "Apis mellifera cerana" EXACT synonym [] synonym: "Asiatic honeybee" EXACT common_name [] synonym: "Easteren honeybee" EXACT common_name [] synonym: "Indian honeybee" EXACT common_name [] synonym: "oriental honeybee" EXACT common_name [] xref: SNOMEDCT:6435005 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:746128 name: Aspergillus fumigatus namespace: ncbi_taxonomy synonym: "Aspergillus fumigates" EXACT synonym [] synonym: "Neosartorya fumigata" EXACT teleomorph [] synonym: "Sartorya fumigata" EXACT misnomer [] xref: MeSH:D001232 xref: NCIt:C77182 xref: SNOMEDCT:32684000 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7462 name: Apis dorsata namespace: ncbi_taxonomy synonym: "Apis mellifera dorsata" EXACT synonym [] synonym: "giant honeybee" EXACT common_name [] synonym: "rock honeybee" EXACT common_name [] xref: SNOMEDCT:68695005 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7463 name: Apis florea namespace: ncbi_taxonomy synonym: "Apis mellifera florea" EXACT synonym [] synonym: "dwarf honeybee" EXACT common_name [] synonym: "little honeybee" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:74632 name: Rosa gallica namespace: ncbi_taxonomy synonym: "apothecary rose" EXACT common_name [] synonym: "French rose" EXACT common_name [] synonym: "red-rose-of-Lancaster" EXACT common_name [] synonym: "Rosa gallica L." EXACT synonym [] xref: NCIt:C72427 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:74648 name: Rosa lucieae namespace: ncbi_taxonomy synonym: "memorial rose" EXACT common_name [] synonym: "Rosa luciae" EXACT synonym [] synonym: "Rosa wichuraiana" EXACT synonym [] synonym: "Rosa wichurana" EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:74649 name: Rosa chinensis namespace: ncbi_taxonomy synonym: "China rose" EXACT common_name [] synonym: "Rosa chinesis" EXACT misspelling [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7469 name: Apis mellifera ligustica namespace: ncbi_taxonomy synonym: "Apis mellifera ligustica Spinola, 1806" EXACT synonym [] synonym: "common honey bee" EXACT common_name [] synonym: "common honeybee" EXACT common_name [] synonym: "Italian honeybee" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:747 name: Pasteurella multocida namespace: ncbi_taxonomy synonym: "Bacterium multocidum" EXACT synonym [] synonym: "Micrococcus gallicidus" EXACT synonym [] synonym: "Pasteurella cholerae-gallinarum" EXACT synonym [] synonym: "Pasteurella gallicida" EXACT synonym [] synonym: "Pateurella multocida" EXACT misspelling [] xref: MeSH:D016979 xref: NCIt:C76373 xref: SNOMEDCT:10879005 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:74940 name: Oncorhynchus tshawytscha namespace: ncbi_taxonomy synonym: "Chinook salmon" EXACT common_name [] synonym: "king salmon" EXACT common_name [] synonym: "Oncorhynchus tschawytscha" EXACT synonym [] synonym: "Oncorhynchus tshawytscha (Walbaum, 1792)" EXACT synonym [] synonym: "Oncorhynchus tshawytsha" EXACT misspelling [] xref: NCIt:C44660 xref: SNOMEDCT:81028000 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:755351 name: Vitis vinifera subsp. silvestris def: "Vitis vinifera subsp. silvestris is the wild ancestor of the Eurasian grape (Vitis vinifera ssp. sativa)." [] xref: PMID:17032268 is_a: NCBITaxon:29760 ! Vitis vinifera property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:75702 name: Populus euphratica namespace: ncbi_taxonomy synonym: "Popolus euphratica" EXACT misspelling [] synonym: "Populus diversifolia" EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:757424 name: Herbaspirillum seropedicae SmR1 synonym: "Herbaspirillum seropedicae str. SmR1" EXACT [] synonym: "Herbaspirillum seropedicae strain SmR1" EXACT [] xref: PMID:22268687 is_a: NCBITaxon:2 ! Bacteria property_value: definition:citation GC_ID:11 xsd:string [Term] id: NCBITaxon:7653 name: Lytechinus pictus namespace: ncbi_taxonomy synonym: "painted sea urchin" EXACT common_name [] synonym: "painted urchin" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7668 name: Strongylocentrotus purpuratus namespace: ncbi_taxonomy synonym: "purple sea urchin" EXACT common_name [] synonym: "purple urchin" EXACT common_name [] synonym: "Strongylocentrotus purpuratus (Stimpson, 1857)" EXACT synonym [] xref: MeSH:D047270 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:76772 name: Spermophilus lateralis namespace: ncbi_taxonomy synonym: "golden-mantled ground squirrel" EXACT common_name [] xref: SNOMEDCT:409969007 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:76912 name: Zea mays subsp. parviglumis namespace: ncbi_taxonomy synonym: "Balsas teosinte" EXACT common_name [] synonym: "teosinte" EXACT common_name [] synonym: "Zea mays parviglumis" EXACT misspelling [] is_a: NCBITaxon:4577 ! Zea mays property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:77009 name: Hordeum vulgare subsp. spontaneum namespace: ncbi_taxonomy synonym: "Hordeum spontaneum" EXACT synonym [] synonym: "Hordeum vulgare subsp. spontaneum (K.Koch) Thell." EXACT synonym [] synonym: "wild barley" EXACT common_name [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:77108 name: Nuphar advena namespace: ncbi_taxonomy is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:77166 name: Dendroctonus ponderosae namespace: ncbi_taxonomy synonym: "mountain pine beetle" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7719 name: Ciona intestinalis namespace: ncbi_taxonomy xref: MeSH:D002938 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:77205 name: Microsporum ferrugineum namespace: ncbi_taxonomy xref: SNOMEDCT:20282005 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7741 name: Branchiostoma belcheri namespace: ncbi_taxonomy synonym: "Belcher's lancelet" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7757 name: Petromyzon marinus namespace: ncbi_taxonomy synonym: "marine lamprey" EXACT common_name [] synonym: "sea lamprey" EXACT common_name [] xref: SNOMEDCT:44023007 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:777 name: Coxiella burnetii namespace: ncbi_taxonomy synonym: "Coxiella burnetii (Derrick 1939) Philip 1948" EXACT synonym [] synonym: "Coxiella burnetii8" EXACT misspelling [] synonym: "Rickettsia burneti" EXACT synonym [] synonym: "Rickettsia burneti" EXACT synonym [NCBITaxonRef:sic_Derrick_1939] synonym: "Rickettsia diaporica" EXACT synonym [NCBITaxonRef:Cox_1939] synonym: "Rickettsia diaporica" EXACT synonym [] xref: MeSH:D016997 xref: NCIt:C86328 xref: SNOMEDCT:22533000 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7782 name: Leucoraja erinacea namespace: ncbi_taxonomy synonym: "Leucoraja erinacea (Mitchill, 1825)" EXACT synonym [] synonym: "little skate" EXACT common_name [] synonym: "Raja erinacea" EXACT synonym [] synonym: "Raja erinacia" EXACT synonym [] xref: SNOMEDCT:87596005 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:781 name: Rickettsia conorii namespace: ncbi_taxonomy synonym: "Rickettsia conorii Brumpt 1932" EXACT synonym [] xref: MeSH:D020114 xref: SNOMEDCT:32691002 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:782 name: Rickettsia prowazekii namespace: ncbi_taxonomy synonym: "Rickettsia prowazekii da Rocha-Lima 1916" EXACT synonym [] xref: MeSH:D012283 xref: NCIt:C86723 xref: SNOMEDCT:28499009 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:783 name: Rickettsia rickettsii namespace: ncbi_taxonomy synonym: "Dermacentroxenus rickettsii" EXACT synonym [] synonym: "Dermacentroxenus rickettsii" EXACT synonym [NCBITaxonRef:Wolbach_1919] synonym: "Rickettsia rickettsii (Wolbach 1919) Brumpt 1922" EXACT synonym [] xref: MeSH:D012284 xref: NCIt:C86724 xref: SNOMEDCT:18054009 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7830 name: Scyliorhinus canicula namespace: ncbi_taxonomy synonym: "Scyliorhinus canicula (Linnaeus, 1758)" EXACT synonym [] synonym: "Scyliorhinus caniculus" EXACT misnomer [] synonym: "smaller spotted catshark" EXACT common_name [] synonym: "smaller spotted dogfish" EXACT common_name [] synonym: "spotted catshark" EXACT common_name [] synonym: "spotted dogfish" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:784 name: Orientia tsutsugamushi namespace: ncbi_taxonomy synonym: "Rickettsia akamushi" EXACT synonym [] synonym: "Rickettsia orientalis" EXACT synonym [] synonym: "Rickettsia tsutsugamushi" EXACT synonym [] synonym: "Theileria tsutsugamushi" EXACT synonym [] xref: MeSH:D012285 xref: SNOMEDCT:114233001 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:78511 name: Ribes nigrum namespace: ncbi_taxonomy synonym: "European black currant" EXACT common_name [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7868 name: Callorhinchus milii namespace: ncbi_taxonomy synonym: "Callorhynchus milii" EXACT misspelling [] synonym: "ghost shark" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:78864 name: Fusarium globosum namespace: ncbi_taxonomy is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:79015 name: Rana chensinensis namespace: ncbi_taxonomy synonym: "Asiatic grass frog" EXACT common_name [] synonym: "Chinese brown frog" EXACT common_name [] synonym: "Far Eastern wood frog" EXACT common_name [] synonym: "Inkiapo frog" EXACT common_name [] synonym: "Rana chensinensis David, 1875" EXACT synonym [] synonym: "Rana temporaria chensinensis" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:79017 name: Rana pirica namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:79327 name: Schmidtea mediterranea namespace: ncbi_taxonomy synonym: "Dugesia (Schmidtea) mediterranea" EXACT synonym [] synonym: "Dugesia mediterranea" EXACT synonym [] synonym: "freshwater planarian" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7936 name: Anguilla anguilla namespace: ncbi_taxonomy synonym: "Angill angill" EXACT synonym [] synonym: "European eel" EXACT common_name [] synonym: "European freshwater eel" EXACT common_name [] synonym: "Muraena anguilla" EXACT synonym [] xref: SNOMEDCT:4571006 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7955 name: Danio rerio namespace: ncbi_taxonomy synonym: "Brachidanio rerio" EXACT misspelling [] synonym: "Brachydanio rerio" EXACT synonym [] synonym: "Brachydanio rerio frankei" EXACT synonym [] synonym: "Cyprinus rerio" EXACT synonym [] synonym: "Cyprinus rerio Hamilton, 1822" EXACT synonym [] synonym: "Danio frankei" EXACT synonym [] synonym: "Danio rerio (Hamilton, 1822)" EXACT synonym [] synonym: "Danio rerio frankei" EXACT synonym [] synonym: "leopard danio" EXACT common_name [] synonym: "zebra danio" EXACT common_name [] synonym: "zebra fish" EXACT common_name [] synonym: "zebrafish" EXACT common_name [] xref: MeSH:D015027 xref: NCIt:C14287 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: NCBITaxon:7957 name: Carassius auratus namespace: ncbi_taxonomy synonym: "Carassius carassius auratus" EXACT synonym [] synonym: "Cyprinus auratus" EXACT synonym [] synonym: "goldfish" EXACT common_name [] xref: MeSH:D006054 xref: SNOMEDCT:12978006 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7962 name: Cyprinus carpio namespace: ncbi_taxonomy synonym: "carp" EXACT common_name [] synonym: "common carp" EXACT common_name [] synonym: "Cyprinus cyprio" EXACT misnomer [] synonym: "Cyrpinus carpio" EXACT misspelling [] xref: SNOMEDCT:3676004 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7963 name: Hypophthalmichthys namespace: ncbi_taxonomy synonym: "Aristichthys" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:79692 name: Human respiratory syncytial virus B1 namespace: ncbi_taxonomy synonym: "Human respiratory syncytial virus (strain B1)" EXACT synonym [] xref: SNOMEDCT:417794000 is_a: NCBITaxon:10239 ! Virus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:79782 name: Cimex lectularius namespace: ncbi_taxonomy synonym: "bed bug" EXACT common_name [] xref: SNOMEDCT:67052007 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:79824 name: Andropogon gerardii namespace: ncbi_taxonomy synonym: "Andropogon gerardii Vitman" EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:79923 name: Clonorchis sinensis namespace: ncbi_taxonomy synonym: "oriental liver fluke" EXACT common_name [] xref: MeSH:D003004 xref: SNOMEDCT:36559008 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:7998 name: Ictalurus punctatus namespace: ncbi_taxonomy synonym: "channel catfish" EXACT common_name [] synonym: "Ictalurus punctatus (Rafinesque, 1818)" EXACT synonym [] synonym: "Silurus punctatus" EXACT synonym [] xref: SNOMEDCT:28629006 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:8014 name: Osmerus mordax namespace: ncbi_taxonomy synonym: "Osmerus mordax (Mitchill, 1814)" EXACT synonym [] synonym: "rainbow smelt" EXACT common_name [] xref: SNOMEDCT:19741003 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:8017 name: Oncorhynchus gorbuscha namespace: ncbi_taxonomy synonym: "humpback salmon" EXACT common_name [] synonym: "Oncorhynchus gorbuscha (Walbaum, 1792)" EXACT synonym [] synonym: "pink salmon" EXACT common_name [] xref: SNOMEDCT:23662001 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:8019 name: Oncorhynchus kisutch namespace: ncbi_taxonomy synonym: "coho salmon" EXACT common_name [] synonym: "Oncorhynchus kisutch (Walbaum, 1792)" EXACT synonym [] synonym: "Oncorhyncus kisutch" EXACT synonym [] xref: MeSH:D017684 xref: SNOMEDCT:81789001 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:8022 name: Oncorhynchus mykiss namespace: ncbi_taxonomy synonym: "Onchorhynchus mykiss" EXACT misspelling [] synonym: "Parasalmo mykiss" EXACT synonym [] synonym: "rainbow trout" EXACT common_name [] synonym: "Salmo mykiss" EXACT synonym [] xref: MeSH:D017686 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:8023 name: Oncorhynchus nerka namespace: ncbi_taxonomy synonym: "Oncorhynchus nerka (Walbaum, 1792)" EXACT synonym [] synonym: "sockeye salmon" EXACT common_name [] xref: SNOMEDCT:68644008 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:803 name: Bartonella quintana namespace: ncbi_taxonomy synonym: "Bartonella quintana (Schmincke 1917) Brenner et al. 1993" EXACT synonym [] synonym: "Burnetia (Rocha-limae) wolhynica" EXACT synonym [] synonym: "Burnetia (Rocha-limae) wolhynica" EXACT synonym [NCBITaxonRef:Macchiavello_1947] synonym: "Rickettsia pediculi" EXACT synonym [] synonym: "Rickettsia pediculi" EXACT synonym [NCBITaxonRef:Munk_and_da_Rocha-Lima_1917] synonym: "Rickettsia quintana" EXACT synonym [] synonym: "Rickettsia quintana" EXACT synonym [NCBITaxonRef:Schmincke_1917] synonym: "Rickettsia weigli" EXACT synonym [] synonym: "Rickettsia weigli" EXACT synonym [NCBITaxonRef:Mosing_1936] synonym: "Rickettsia wolhynica" EXACT synonym [] synonym: "Rickettsia wolhynica" EXACT synonym [NCBITaxonRef:Jungmann_and_Kuczynski_1918] synonym: "Rochalimaea quintana" EXACT synonym [] synonym: "Rochalimaea quintana (Schmincke 1917) Krieg 1961 (Approved Lists 1980)" EXACT synonym [] synonym: "Wolhynia qintanae" EXACT synonym [] synonym: "Wolhynia qintanae" EXACT synonym [NCBITaxonRef:sic_Zhdanov_and_Korenblit_1950] xref: MeSH:D018413 xref: NCIt:C86187 xref: SNOMEDCT:103511001 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:8030 name: Salmo salar namespace: ncbi_taxonomy synonym: "Atlantic salmon" EXACT common_name [] synonym: "Salmo salar Linnaeus, 1758" EXACT synonym [] xref: MeSH:D020317 xref: SNOMEDCT:39947003 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:8032 name: Salmo trutta namespace: ncbi_taxonomy synonym: "brown trout" EXACT common_name [] xref: SNOMEDCT:78884003 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:8036 name: Salvelinus alpinus namespace: ncbi_taxonomy synonym: "Arctic char" EXACT common_name [] synonym: "Salvelinus alpinus (Linnaeus, 1758)" EXACT synonym [] xref: SNOMEDCT:13041000 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:8038 name: Salvelinus fontinalis namespace: ncbi_taxonomy synonym: "brook trout" EXACT common_name [] synonym: "Salvelinus fontinalis (Mitchill, 1814)" EXACT synonym [] xref: SNOMEDCT:74019008 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:8049 name: Gadus morhua namespace: ncbi_taxonomy synonym: "Atlantic cod" EXACT common_name [] xref: MeSH:D048389 xref: SNOMEDCT:55264007 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:8078 name: Fundulus heteroclitus namespace: ncbi_taxonomy synonym: "Atlantic killifish" EXACT common_name [] synonym: "killifish" EXACT common_name [] synonym: "mummichog" EXACT common_name [] xref: SNOMEDCT:868002 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:8081 name: Poecilia reticulata namespace: ncbi_taxonomy synonym: "Acanthophacelus reticulata" EXACT synonym [] synonym: "guppy" EXACT common_name [] synonym: "Poecilia (Acanthophacelus) reticulata" EXACT synonym [] xref: SNOMEDCT:84872000 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:8082 name: Xiphophorus namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:8090 name: Oryzias latipes namespace: ncbi_taxonomy synonym: "Japanese medaka" EXACT common_name [] synonym: "Japanese rice fish" EXACT common_name [] synonym: "medaka" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:80956 name: Pomacentrus moluccensis namespace: ncbi_taxonomy synonym: "lemon damsel" EXACT common_name [] synonym: "Pomacentrus moluccensis Bleeker, 1853" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:81077 name: artificial sequences namespace: ncbi_taxonomy is_a: OBI:0100026 ! organism property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:8128 name: Oreochromis niloticus namespace: ncbi_taxonomy synonym: "Nile tilapia" EXACT common_name [] synonym: "Oreochromis nilonica" EXACT misspelling [] synonym: "Oreochromis nilotica" EXACT synonym [] synonym: "Tilapia nilotica" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:813 name: Chlamydia trachomatis namespace: ncbi_taxonomy synonym: "Chlamydozoon trachomatis" EXACT synonym [] synonym: "Rickettsia trachomae" EXACT synonym [] synonym: "Rickettsia trachomatis" EXACT synonym [] xref: MeSH:D002692 xref: NCIt:C86253 xref: SNOMEDCT:63938009 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:81473 name: Alopecurus myosuroides namespace: ncbi_taxonomy synonym: "Alopecurus agrestis" EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:8152 name: Astatotilapia namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:8153 name: Haplochromis burtoni namespace: ncbi_taxonomy synonym: "Astatotilapia burtoni" EXACT synonym [] synonym: "Chromis burtoni" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:816 name: Bacteroides namespace: ncbi_taxonomy synonym: "Capsularis" EXACT synonym [] synonym: "Ristella" EXACT synonym [] xref: MeSH:D001439 xref: NCIt:C76204 xref: SNOMEDCT:57522007 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:8164 name: Lateolabrax japonicus namespace: ncbi_taxonomy synonym: "Japanese seabass" EXACT common_name [] synonym: "suzuki" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:817 name: Bacteroides fragilis namespace: ncbi_taxonomy synonym: "Bacillus fragilis" EXACT synonym [] synonym: "Bacteroides fragili" EXACT misspelling [] synonym: "Bacteroides inaequalis" EXACT synonym [] synonym: "Bacteroides incommunis" EXACT synonym [] synonym: "Bacteroides uncatus" EXACT synonym [] synonym: "Fusiformis fragilis" EXACT synonym [] synonym: "Pseudobacterium fragilis" EXACT synonym [] synonym: "Pseudobacterium inaequalis" EXACT synonym [] synonym: "Pseudobacterium incommunis" EXACT synonym [] synonym: "Pseudobacterium uncatum" EXACT synonym [] synonym: "Ristella fragilis" EXACT synonym [] synonym: "Ristella incommunis" EXACT synonym [] synonym: "Ristella uncata" EXACT synonym [] synonym: "Sphaerophorus inaequalis" EXACT synonym [] synonym: "Sphaerophorus intermedius" EXACT synonym [] xref: ICD9:041.82 xref: MeSH:D001441 xref: NCIt:C86172 xref: SNOMEDCT:55247009 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:8175 name: Sparus aurata namespace: ncbi_taxonomy synonym: "Aurata aurata" EXACT synonym [] synonym: "Chrysophrys auratus (Linnaeus, 1758)" EXACT misnomer [] synonym: "gilthead bream" EXACT common_name [] synonym: "gilthead seabream" EXACT common_name [] synonym: "Pagrus auratus (Linnaeus, 1758)" EXACT misnomer [] synonym: "silver seabream" EXACT common_name [] synonym: "Sparus auratus" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:818 name: Bacteroides thetaiotaomicron namespace: ncbi_taxonomy synonym: "Bacillus thetaiotaomicron" EXACT synonym [] synonym: "Bacteroides fragilis subsp. thetaiotaomicron" EXACT synonym [] synonym: "Pseudobacterium thetaiotaomicron" EXACT synonym [] synonym: "Sphaerocillus thetaiotaomicron" EXACT synonym [] xref: NCIt:C86179 xref: SNOMEDCT:34236001 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:81824 name: Monosiga brevicollis namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:81845 name: Trichophyton terrestre namespace: ncbi_taxonomy xref: SNOMEDCT:86554002 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:81846 name: Arthroderma cajetani namespace: ncbi_taxonomy synonym: "Microsporum cookei" EXACT genbank_anamorph [] synonym: "Nannizzia cajetani" EXACT synonym [] xref: SNOMEDCT:76608007 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:81970 name: Arabidopsis halleri namespace: ncbi_taxonomy synonym: "Arabidopsis halleri (L.) O'Kane & Al-Shehbaz" EXACT synonym [] is_a: NCBITaxon:3701 ! Arabidopsis property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:81985 name: Capsella rubella namespace: ncbi_taxonomy is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:821 name: Bacteroides vulgatus namespace: ncbi_taxonomy xref: NCIt:C86182 xref: SNOMEDCT:52798008 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:8222 name: Gillichthys mirabilis namespace: ncbi_taxonomy synonym: "long-jawed mudsucker" EXACT common_name [] xref: SNOMEDCT:7838007 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:82328 name: Lilium regale namespace: ncbi_taxonomy is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:8237 name: Thunnus thynnus namespace: ncbi_taxonomy synonym: "bluefin tuna" EXACT common_name [] synonym: "northern bluefin tuna" EXACT common_name [] xref: SNOMEDCT:50168002 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:82378 name: Amphiura filiformis namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:8260 name: Platichthys flesus namespace: ncbi_taxonomy synonym: "European flounder" EXACT common_name [] synonym: "Platichthys flessus" EXACT misspelling [] synonym: "Platichthys flesus (Linnaeus, 1758)" EXACT synonym [] synonym: "Platicthys flesus" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:8267 name: Hippoglossus hippoglossus namespace: ncbi_taxonomy synonym: "Atlantic halibut" EXACT common_name [] synonym: "Hippoglossus hippoglossus (Linnaeus, 1758)" EXACT synonym [] xref: SNOMEDCT:4166007 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:82689 name: Salmonella enterica subsp. enterica serovar Muenster namespace: ncbi_taxonomy synonym: "Salmonella enteritidis serotype muenster" EXACT synonym [] synonym: "Salmonella muenster" EXACT synonym [] xref: SNOMEDCT:68916009 is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:8296 name: Ambystoma mexicanum namespace: ncbi_taxonomy synonym: "Ambystoma mexicanum (Shaw & Nodder, 1798)" EXACT synonym [] synonym: "axolotl" EXACT common_name [] xref: MeSH:D000558 xref: SNOMEDCT:52796007 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:8316 name: Notophthalmus viridescens namespace: ncbi_taxonomy synonym: "eastern newt" EXACT common_name [] synonym: "Notophthalmus viridiscens" EXACT misspelling [] synonym: "Notopthalmus viridescens" EXACT misspelling [] synonym: "red-spotted newt" EXACT common_name [] synonym: "Triturus viridescens" EXACT synonym [] xref: MeSH:D009673 xref: SNOMEDCT:55717008 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:83331 name: Mycobacterium tuberculosis CDC1551 namespace: ncbi_taxonomy synonym: "Mycobacterium tuberculosis CSU#93" EXACT synonym [] xref: MeSH:D009169 xref: NCIt:C76370 xref: SNOMEDCT:113861009 xref: SNOMEDCT:703057000 is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:83332 name: Mycobacterium tuberculosis H37Rv namespace: ncbi_taxonomy synonym: "Mycobacterium tuberculosis str. H37Rv" EXACT equivalent_name [] synonym: "Mycobacterium tuberculosis strain H37Rv" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:83333 name: Escherichia coli K-12 namespace: ncbi_taxonomy synonym: "Escherichia coli K12" EXACT equivalent_name [] xref: MeSH:D048168 is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:83334 name: Escherichia coli O157:H7 namespace: ncbi_taxonomy synonym: "Escherichia coli 0157:H7" EXACT misspelling [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:83526 name: Lactobacillus paralimentarius namespace: ncbi_taxonomy synonym: "Lactobacillus paraalimentarius" EXACT misspelling [] synonym: "Lactobacillus paralimentarius Cai et al. 1999" EXACT synonym [] xref: SNOMEDCT:431293008 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:8355 name: Xenopus laevis namespace: ncbi_taxonomy synonym: "African clawed frog" EXACT common_name [] synonym: "Bufo laevis" EXACT synonym [] synonym: "clawed frog" EXACT common_name [] synonym: "common platanna" EXACT common_name [] synonym: "platanna" EXACT common_name [] synonym: "Xenopus laevis (Daudin, 1802)" EXACT synonym [] synonym: "Xenopus leavis" EXACT misspelling [] xref: MeSH:D014982 xref: NCIt:C61089 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:8364 name: Xenopus (Silurana) tropicalis namespace: ncbi_taxonomy synonym: "Silurana tropicalis" EXACT synonym [] synonym: "western clawed frog" EXACT common_name [] synonym: "Xenopus laevis tropicalis" EXACT synonym [] synonym: "Xenopus tropicalis" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:837 name: Porphyromonas gingivalis namespace: ncbi_taxonomy synonym: "Bacteroides gingivalis" EXACT synonym [] xref: MeSH:D016966 xref: NCIt:C86657 xref: SNOMEDCT:114163003 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:83816 name: Methanobrevibacter ruminantium namespace: ncbi_taxonomy synonym: "Methanobacterium ruminantium" EXACT synonym [] xref: SNOMEDCT:432592000 is_a: NCBITaxon:2157 ! Archaea property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:8386 name: Bufo marinus namespace: ncbi_taxonomy synonym: "Bufo marinus (Linnaeus, 1758)" EXACT synonym [] synonym: "cane toad" EXACT common_name [] synonym: "Chaunus marinus" EXACT synonym [] synonym: "giant toad" EXACT common_name [] synonym: "marine toad" EXACT common_name [] synonym: "Rana marina" EXACT synonym [] synonym: "Rhinella marina" EXACT synonym [] synonym: "Rhinella marinus" EXACT synonym [] xref: MeSH:D002024 xref: SNOMEDCT:79511000 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:84588 name: Synechococcus sp. WH 8102 namespace: ncbi_taxonomy synonym: "Synechococcus sp. WH8102" EXACT synonym [] synonym: "Synechococcus WH8102" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:851 name: Fusobacterium nucleatum namespace: ncbi_taxonomy synonym: "Corynebacterium fusiforme" EXACT synonym [] synonym: "Fusibacterium nucleatum" EXACT equivalent_name [] synonym: "Fusiformis fusiformis" EXACT synonym [] synonym: "Fusiformis nucleatus" EXACT synonym [] synonym: "Fusobacterium fusiforme" EXACT synonym [] synonym: "Fusobacterium plauti-vincenti" EXACT synonym [] xref: MeSH:D016967 xref: NCIt:C86404 xref: SNOMEDCT:32763000 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:85552 name: Scylla paramamosain namespace: ncbi_taxonomy synonym: "green mud crab" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:85558 name: Streptomyces turgidiscabies namespace: ncbi_taxonomy synonym: "Streptomyces turgidiscabiei" EXACT misspelling [] xref: SNOMEDCT:438740000 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:85571 name: Citrus reticulata namespace: ncbi_taxonomy synonym: "Citrus poonensis" EXACT synonym [] synonym: "mandarin orange" EXACT common_name [] synonym: "tangerine" EXACT common_name [] xref: NCIt:C72017 xref: SNOMEDCT:256316006 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:85620 name: Candidatus Phytoplasma asteris namespace: ncbi_taxonomy synonym: "16SrI (Aster yellows group)" EXACT genbank_synonym [] synonym: "Candidatus Phytoplasma asteri" EXACT misspelling [] synonym: "Phytoplasma asteris" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species_group property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:85681 name: Citrus clementina namespace: ncbi_taxonomy synonym: "Citrus clementina hort. ex Tanaka" EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:85692 name: Triticum dicoccoides namespace: ncbi_taxonomy synonym: "Triticum turgidum subsp. dicoccoides" EXACT synonym [] synonym: "Triticum turgidum var. dicoccoides" EXACT synonym [] synonym: "wild emmer wheat" EXACT common_name [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:85962 name: Helicobacter pylori 26695 namespace: ncbi_taxonomy synonym: "Helicobacter pylori (strain 26695)" EXACT equivalent_name [] synonym: "Helicobacter pylori ATCC 700392" EXACT synonym [] synonym: "Helicobacter pylori KE26695" EXACT synonym [] synonym: "Helicobacter pylori str. 26695" EXACT equivalent_name [] synonym: "Helicobacter pylori strain 26695" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:85963 name: Helicobacter pylori J99 namespace: ncbi_taxonomy synonym: "Helicobacter pylori str. J99" EXACT equivalent_name [] synonym: "Helicobacter pylori strain J99" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:85986 name: Paxillus filamentosus namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:86020 name: Leymus cinereus namespace: ncbi_taxonomy synonym: "Leymus cinereus (Scribn. & Merr.) A.Love" EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:86021 name: Leymus triticoides namespace: ncbi_taxonomy synonym: "Leymus triticoides (Buckley) Pilg." EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:86662 name: Bacillus weihenstephanensis namespace: ncbi_taxonomy xref: SNOMEDCT:413622000 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:870 name: Dichelobacter nodosus namespace: ncbi_taxonomy synonym: "Bacteroides nodosus" EXACT synonym [] synonym: "Bacteroides nodosus (Beveridge 1941) Mraz 1963 (Approved Lists 1980)" EXACT synonym [] synonym: "Dichelobacter nodosus (Beveridge 1941) Dewhirst et al. 1990" EXACT synonym [] synonym: "Fusiformis nodosus" EXACT synonym [NCBITaxonRef:Beveridge_1941] synonym: "Fusiformis nodosus" EXACT synonym [] synonym: "Organism K" EXACT synonym [NCBITaxonRef:Beveridge_1938] synonym: "Organism K" EXACT synonym [] synonym: "Ristella nodosa" EXACT synonym [NCBITaxonRef:Beveridge_1941_Prevot_1948] synonym: "Ristella nodosa" EXACT synonym [] xref: MeSH:D020376 xref: SNOMEDCT:114168007 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:870730 name: Ogataea angusta namespace: ncbi_taxonomy synonym: "Hansenula polymorpha" EXACT synonym [] synonym: "Pichia angusta" EXACT synonym [] xref: SNOMEDCT:449402006 is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:87173 name: Geospiza difficilis namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:8730 name: Crotalus atrox namespace: ncbi_taxonomy synonym: "western diamondback rattlesnake" EXACT common_name [] xref: SNOMEDCT:73601008 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:87530 name: Cyclamen persicum namespace: ncbi_taxonomy is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:87674 name: Eucalyptus nitens namespace: ncbi_taxonomy is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:87883 name: Burkholderia multivorans namespace: ncbi_taxonomy synonym: "Burkholderia cepacia genomovar II" EXACT synonym [] xref: SNOMEDCT:113675004 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:88036 name: Selaginella moellendorffii namespace: ncbi_taxonomy synonym: "Selaginella moellendorffii Hieron." EXACT synonym [] synonym: "Selaginella moellendorfii" EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:881 name: Desulfovibrio vulgaris namespace: ncbi_taxonomy synonym: "Desulfovibrio vulgaris vulgaris" EXACT misspelling [] xref: MeSH:D016969 xref: SNOMEDCT:431923009 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:882 name: Desulfovibrio vulgaris str. Hildenborough namespace: ncbi_taxonomy synonym: "Desulfovibrio vulgaris (STRAIN HILDENBOROUGH)" EXACT equivalent_name [] synonym: "Desulfovibrio vulgaris ATCC 29579" EXACT synonym [] synonym: "Desulfovibrio vulgaris Hildenborough" EXACT equivalent_name [] synonym: "Desulfovibrio vulgaris subsp. vulgaris (strain Hildenborough)" EXACT synonym [] synonym: "Desulfovibrio vulgaris subsp. vulgaris ATCC 29579" EXACT synonym [] synonym: "Desulfovibrio vulgaris subsp. vulgaris str. Hildenborough" EXACT synonym [] synonym: "Desulfovibrio vulgaris vulgaris (strain Hildenborough)" EXACT misspelling [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:88211 name: Petrolisthes cinctipes namespace: ncbi_taxonomy synonym: "flat porcelain crab" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:8839 name: Anas platyrhynchos namespace: ncbi_taxonomy synonym: "Anas boschas" EXACT synonym [] synonym: "Anas domesticus" EXACT synonym [] synonym: "Anas platyrhynchus" EXACT misspelling [] synonym: "duck" EXACT common_name [] synonym: "mallard" EXACT common_name [] synonym: "mallard duck" EXACT common_name [] synonym: "mallard ducks" EXACT common_name [] xref: NCIt:C73850 xref: SNOMEDCT:125102002 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:88556 name: Trialeurodes vaporariorum namespace: ncbi_taxonomy synonym: "greenhouse whitefly" EXACT common_name [] synonym: "Trialeurodes vaporarium" EXACT misspelling [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:89184 name: Ruegeria pomeroyi namespace: ncbi_taxonomy synonym: "Silicibacter pomeroyi" EXACT genbank_synonym [] xref: SNOMEDCT:441033001 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:8932 name: Columba livia namespace: ncbi_taxonomy synonym: "domestic pigeon" EXACT common_name [] synonym: "Rock pigeon" EXACT common_name [] xref: SNOMEDCT:409912008 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:89462 name: Bubalus bubalis namespace: ncbi_taxonomy synonym: "Bubalis arnee bubalis" EXACT misspelling [] synonym: "Bubalis bubalis" EXACT misspelling [] synonym: "Bubalus arnee" EXACT synonym [] synonym: "Bubalus arnee bubalis" EXACT synonym [] synonym: "Bubalus bubalus" EXACT misspelling [] synonym: "domestic water buffalo" EXACT common_name [] synonym: "river buffalo" EXACT common_name [] synonym: "water buffalo" EXACT common_name [] xref: SNOMEDCT:28692007 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:8965 name: Gyps namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:89981 name: Saccharomyces bayanus x Saccharomyces cerevisiae namespace: ncbi_taxonomy is_a: NCBITaxon:4890 ! Ascomycota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9 name: Buchnera aphidicola namespace: ncbi_taxonomy synonym: "Buchnera aphidicola Munson et al. 1991" EXACT synonym [] xref: SNOMEDCT:433530002 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:90105 name: Salmonella enterica subsp. enterica serovar Saintpaul namespace: ncbi_taxonomy synonym: "Salmonella enterica serovar Saintpaul" EXACT synonym [] synonym: "Salmonella enterica subsp. enterica serovar Saint Paul" EXACT synonym [] synonym: "Salmonella enteritidis serovar Saintpaul" EXACT misnomer [] synonym: "Salmonella saintpaul" EXACT synonym [] xref: SNOMEDCT:2820001 is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9014 name: Colinus virginianus namespace: ncbi_taxonomy synonym: "bobwhite quail" EXACT common_name [] synonym: "Colinus virginuanus" EXACT misspelling [] synonym: "common bobwhite" EXACT common_name [] synonym: "northern bobwhite" EXACT common_name [] xref: SNOMEDCT:12888006 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9031 name: Gallus gallus namespace: ncbi_taxonomy synonym: "bantam" EXACT common_name [] synonym: "chicken" EXACT common_name [] synonym: "chickens" EXACT common_name [] synonym: "Gallus domesticus" EXACT misnomer [] synonym: "Gallus gallus domesticus" EXACT misnomer [] xref: MeSH:D002645 xref: NCIt:C14193 xref: SNOMEDCT:47290002 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: NCBITaxon:90370 name: Salmonella enterica subsp. enterica serovar Typhi namespace: ncbi_taxonomy synonym: "Bacillus typhi" EXACT synonym [] synonym: "Bacterium (subgen. Eberthella) typhi" EXACT synonym [] synonym: "Salmonella choleraesuis serovar Typhi" EXACT synonym [] synonym: "Salmonella choleraesuis typhi" EXACT synonym [] synonym: "Salmonella enterica ser. typhi" EXACT synonym [] synonym: "Salmonella enterica serotype Typhi" EXACT synonym [] synonym: "Salmonella enterica serovar Typhi" EXACT synonym [] synonym: "Salmonella typhi" EXACT genbank_synonym [] xref: MeSH:D012485 xref: SNOMEDCT:5595000 is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:90371 name: Salmonella enterica subsp. enterica serovar Typhimurium namespace: ncbi_taxonomy synonym: "Bacillus typhimurium" EXACT synonym [] synonym: "Salmonella choleraesuis serotype typhimurium" EXACT synonym [] synonym: "Salmonella enterica 1,4,[5],12,:i:1,2" EXACT synonym [] synonym: "Salmonella enterica ser. typhimurium" EXACT synonym [] synonym: "Salmonella enterica serotype Typhimurium" EXACT synonym [] synonym: "Salmonella enterica serovar Typhimurium" EXACT synonym [] synonym: "Salmonella enterica subsp. enterica serovar 1,4,[5],12,:i:1,2" EXACT synonym [] synonym: "Salmonella typhi-murium" EXACT synonym [] synonym: "Salmonella typhimurium" EXACT genbank_synonym [] synonym: "Samonella typhimurium" EXACT misspelling [] xref: MeSH:D012486 xref: SNOMEDCT:50136005 is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9046 name: Lophura nycthemera namespace: ncbi_taxonomy synonym: "silver pheasant" EXACT common_name [] xref: SNOMEDCT:423253009 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9049 name: Pavo cristatus namespace: ncbi_taxonomy synonym: "blue peafowl" EXACT common_name [] synonym: "Indian peafowl" EXACT common_name [] xref: SNOMEDCT:15330007 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:90550 name: Macroptilium atropurpureum namespace: ncbi_taxonomy synonym: "Macroptilium atropurpureum (DC.) Urb." EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9088 name: Chrysolophus amherstiae namespace: ncbi_taxonomy synonym: "Lady Amherst's pheasant" EXACT common_name [] xref: SNOMEDCT:5684003 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9089 name: Chrysolophus pictus namespace: ncbi_taxonomy synonym: "golden pheasant" EXACT common_name [] xref: SNOMEDCT:1161001 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:90961 name: Australian bat lyssavirus namespace: ncbi_taxonomy xref: SNOMEDCT:426972006 is_a: NCBITaxon:10239 ! Virus property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:90988 name: Pimephales promelas namespace: ncbi_taxonomy synonym: "fathead minnow" EXACT common_name [] xref: SNOMEDCT:3619001 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9103 name: Meleagris gallopavo namespace: ncbi_taxonomy synonym: "common turkey" EXACT common_name [] synonym: "turkey" EXACT common_name [] synonym: "wild turkey" EXACT common_name [] xref: MeSH:D014421 xref: NCIt:C17222 xref: SNOMEDCT:20657003 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:91422 name: Polistes metricus namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:915 name: Nitrosomonas europaea namespace: ncbi_taxonomy synonym: "Bacterium nitrosomonas" EXACT synonym [] synonym: "Bacterium nitrosomonas" EXACT synonym [NCBITaxonRef:Lehmann_and_Neumann_1899] synonym: "Nitrosomonas europaea Winogradsky 1892" EXACT synonym [] synonym: "Planococcus europaeus" EXACT synonym [NCBITaxonRef:Winogradsky_1892_Vuillemin_1913] synonym: "Planococcus europaeus" EXACT synonym [] synonym: "Pseudomonas europaea" EXACT synonym [] synonym: "Pseudomonas europaea" EXACT synonym [NCBITaxonRef:Winogradsky_1892_Migula_1895] xref: MeSH:D043370 xref: SNOMEDCT:434459005 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:920 name: Acidithiobacillus ferrooxidans namespace: ncbi_taxonomy synonym: "Acidithiobacillus ferroxidans" EXACT misspelling [] synonym: "Ferrobacillus ferrooxidans" EXACT synonym [] synonym: "Ferrobacillus sulfooxidans" EXACT synonym [] synonym: "Thiobacillus ferrooxidans" EXACT synonym [] synonym: "Thiobacillus ferrooxidans@" EXACT misspelling [] synonym: "Tiobacillus ferroxidant" EXACT misspelling [] xref: SNOMEDCT:425119002 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:92181 name: Bartonella koehlerae namespace: ncbi_taxonomy synonym: "Bartonella koehlerae Droz et al. 2000" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9234 name: Aptenodytes patagonicus namespace: ncbi_taxonomy synonym: "Aptenodytes patagonica" EXACT synonym [] synonym: "king penguin" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9244 name: Calypte anna namespace: ncbi_taxonomy synonym: "Anna's hummingbird" EXACT common_name [] xref: SNOMEDCT:409934005 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9258 name: Ornithorhynchus anatinus namespace: ncbi_taxonomy synonym: "duck-billed platypus" EXACT common_name [] synonym: "duckbill platypus" EXACT common_name [] synonym: "Ornythorhynchus anatinus" EXACT misspelling [] synonym: "platypus" EXACT common_name [] xref: MeSH:D010987 xref: SNOMEDCT:395556009 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9261 name: Tachyglossus aculeatus namespace: ncbi_taxonomy synonym: "Australian echidna" EXACT common_name [] synonym: "short-beaked echidna" EXACT common_name [] xref: SNOMEDCT:445199006 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9305 name: Sarcophilus harrisii namespace: ncbi_taxonomy synonym: "Sarcophilus laniarius" EXACT synonym [] synonym: "Tasmanian devil" EXACT common_name [] xref: SNOMEDCT:86829008 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:93061 name: Staphylococcus aureus subsp. aureus NCTC 8325 namespace: ncbi_taxonomy synonym: "Staphylococcus aureus NCTC 8325" EXACT synonym [] synonym: "Staphylococcus aureus subsp. aureus str. NCTC 8325" EXACT equivalent_name [] synonym: "Staphylococcus aureus subsp. aureus strain NCTC 8325" EXACT equivalent_name [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:93062 name: Staphylococcus aureus subsp. aureus COL namespace: ncbi_taxonomy synonym: "Staphylococcus aureus COL" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9315 name: Macropus eugenii namespace: ncbi_taxonomy synonym: "tammar wallaby" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9361 name: Dasypus novemcinctus namespace: ncbi_taxonomy synonym: "nine-banded armadillo" EXACT common_name [] xref: SNOMEDCT:63724009 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:93929 name: Thermotoga petrophila namespace: ncbi_taxonomy xref: SNOMEDCT:438668009 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:93934 name: Coturnix japonica namespace: ncbi_taxonomy synonym: "Coturnix coturnix japonica" EXACT synonym [] synonym: "Japanese quail" EXACT common_name [] xref: SNOMEDCT:396531006 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:94232 name: Epinephelus coioides namespace: ncbi_taxonomy synonym: "Epinephelum coioides" EXACT misspelling [] synonym: "Epinephelus coioides (Hamilton, 1822)" EXACT synonym [] synonym: "estuary cod" EXACT common_name [] synonym: "estuary rock cod" EXACT common_name [] synonym: "orange-spotted grouper" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:94289 name: Sterkiella histriomuscorum namespace: ncbi_taxonomy synonym: "Oxytricha trifallax" EXACT genbank_synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:94323 name: Crassostrea ariakensis namespace: ncbi_taxonomy synonym: "Crassostrea ariakensis (Fujita, 1913)" EXACT synonym [] synonym: "Crassostrea ariakesis" EXACT misspelling [] synonym: "Suminoe oyster" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:94328 name: Zingiber officinale namespace: ncbi_taxonomy synonym: "ginger" EXACT common_name [] xref: MeSH:D020939 xref: NCIt:C54083 xref: SNOMEDCT:227400003 xref: SNOMEDCT:420780004 is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:948 name: Anaplasma phagocytophilum namespace: ncbi_taxonomy synonym: "agent of human granulocytic ehrlichiosis" EXACT common_name [] synonym: "Anaplasma phagocytophila" EXACT synonym [] synonym: "Cytoecetes bovis" EXACT synonym [] synonym: "Cytoecetes phagocytophila" EXACT synonym [] synonym: "Ehrlichia equi" EXACT synonym [] synonym: "Ehrlichia phagocytophila" EXACT synonym [] synonym: "Ehrlichia sp. 'HGE agent'" EXACT synonym [] synonym: "HGE agent" EXACT synonym [] synonym: "human granulocytic Ehrlichia" EXACT synonym [] synonym: "Rickettsia phagocytophila" EXACT synonym [] synonym: "Rickettsia phagocytophila ovis" EXACT synonym [] xref: MeSH:D041081 xref: SNOMEDCT:420364006 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9483 name: Callithrix jacchus namespace: ncbi_taxonomy synonym: "Callithrix jacchus jacchus" EXACT synonym [] synonym: "common marmoset" EXACT common_name [] synonym: "white ear-tufted marmoset" EXACT common_name [] synonym: "white-tufted-ear marmoset" EXACT common_name [] xref: SNOMEDCT:406733009 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:94898 name: Masticophis namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9531 name: Cercocebus atys namespace: ncbi_taxonomy synonym: "Cercocebus torquatus atys" EXACT synonym [] synonym: "sooty mangabey" EXACT common_name [] xref: MeSH:D016665 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9534 name: Chlorocebus aethiops namespace: ncbi_taxonomy synonym: "African green monkey" EXACT common_name [] synonym: "African green monkeys" EXACT common_name [] synonym: "Cercopithecus aethiops" EXACT genbank_synonym [] synonym: "Ceropithecus aethiops" EXACT misspelling [] synonym: "green monkey" EXACT common_name [] synonym: "grivet" EXACT common_name [] synonym: "savanah monkey" EXACT common_name [] synonym: "vervet monkey" EXACT common_name [] xref: MeSH:D002522 xref: NCIt:C76360 xref: SNOMEDCT:389180005 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: NCBITaxon:9541 name: Macaca fascicularis namespace: ncbi_taxonomy synonym: "crab eating macaque" EXACT common_name [] synonym: "crab-eating macaque" EXACT common_name [] synonym: "cynomolgus monkey" EXACT common_name [] synonym: "cynomolgus monkeys" EXACT common_name [] synonym: "long-tailed macaque" EXACT common_name [] synonym: "Macaca cynomolgus" EXACT synonym [] synonym: "Macaca irus" EXACT synonym [] xref: MeSH:D008252 xref: NCIt:C14232 xref: SNOMEDCT:19422000 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: NCBITaxon:9544 name: Macaca mulatta namespace: ncbi_taxonomy synonym: "rhesus macaque" EXACT common_name [] synonym: "rhesus macaques" EXACT common_name [] synonym: "Rhesus monkey" EXACT common_name [] synonym: "rhesus monkeys" EXACT common_name [] xref: MeSH:D008253 xref: NCIt:C14233 xref: SNOMEDCT:72941006 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: NCBITaxon:9545 name: Macaca nemestrina namespace: ncbi_taxonomy synonym: "pig-tailed macaque" EXACT common_name [] synonym: "pigtail macaque" EXACT common_name [] synonym: "pigtail monkey" EXACT common_name [] xref: MeSH:D008254 xref: SNOMEDCT:53413005 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9548 name: Macaca radiata namespace: ncbi_taxonomy synonym: "bonnet macaque" EXACT common_name [] xref: MeSH:D008255 xref: SNOMEDCT:52682009 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:95486 name: Burkholderia cenocepacia namespace: ncbi_taxonomy synonym: "Burkholderia cepacia genomovar III" EXACT synonym [] xref: MeSH:D057508 xref: NCIt:C86223 xref: SNOMEDCT:416941006 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:955 name: Wolbachia pipientis namespace: ncbi_taxonomy xref: SNOMEDCT:424472003 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9554 name: Papio namespace: ncbi_taxonomy synonym: "baboons" EXACT common_name [] xref: MeSH:D010215 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:genus property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9555 name: Papio anubis namespace: ncbi_taxonomy synonym: "Anubis baboon" EXACT synonym [] synonym: "baboon" EXACT common_name [] synonym: "Doguera baboon" EXACT common_name [] synonym: "Kenya baboon" EXACT common_name [] synonym: "Olive baboon" EXACT common_name [] synonym: "Papio cynocephalus anubis" EXACT synonym [] synonym: "Papio doguera" EXACT synonym [] synonym: "Papio hamadryas anubis" EXACT synonym [] synonym: "Papio hamadryas doguera" EXACT synonym [] xref: MeSH:D048530 xref: NCIt:C14252 is_a: NCBITaxon:9554 ! Papio property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: NCBITaxon:9557 name: Papio hamadryas namespace: ncbi_taxonomy synonym: "baboon" EXACT common_name [] synonym: "hamadryas baboon" EXACT common_name [] synonym: "Papio hamadryas subsp." EXACT equivalent_name [] synonym: "red baboon" EXACT common_name [] synonym: "sacred baboon" EXACT synonym [] synonym: "western baboon" EXACT common_name [] xref: MeSH:D048529 xref: NCIt:C14252 xref: SNOMEDCT:21683004 is_a: NCBITaxon:9554 ! Papio property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:959 name: Bdellovibrio bacteriovorus namespace: ncbi_taxonomy xref: SNOMEDCT:21353000 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9593 name: Gorilla gorilla namespace: ncbi_taxonomy synonym: "gorilla" EXACT common_name [] synonym: "western gorilla" EXACT common_name [] xref: MeSH:D006071 xref: SNOMEDCT:8807009 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: NCBITaxon:9595 name: Gorilla gorilla gorilla namespace: ncbi_taxonomy synonym: "lowland gorilla" EXACT common_name [] synonym: "western lowland gorilla" EXACT common_name [] xref: SNOMEDCT:389221003 is_a: NCBITaxon:9593 ! Gorilla gorilla property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9597 name: Pan paniscus namespace: ncbi_taxonomy synonym: "bonobo" EXACT common_name [] synonym: "pygmy chimpanzee" EXACT common_name [] xref: MeSH:D019974 xref: SNOMEDCT:67108001 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: NCBITaxon:9598 name: Pan troglodytes namespace: ncbi_taxonomy synonym: "Chimpansee troglodytes" EXACT misspelling [] synonym: "chimpanzee" EXACT common_name [] xref: MeSH:D002679 xref: NCIt:C14297 xref: SNOMEDCT:1480007 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: NCBITaxon:9600 name: Pongo pygmaeus namespace: ncbi_taxonomy synonym: "Bornean orangutan" EXACT common_name [] synonym: "orang utan" EXACT common_name [] synonym: "Orang-utan" EXACT common_name [] synonym: "Orangutan" EXACT common_name [] xref: MeSH:D011148 xref: SNOMEDCT:1177000 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: NCBITaxon:9601 name: Pongo abelii namespace: ncbi_taxonomy synonym: "orang utan" EXACT common_name [] synonym: "Orang-utan" EXACT common_name [] synonym: "Orangutan" EXACT common_name [] synonym: "Pongo pygmaeus abeli" EXACT synonym [] synonym: "Pongo pygmaeus abelii" EXACT synonym [] synonym: "Sumatran orangutan" EXACT common_name [] xref: MeSH:D057080 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9602 name: Pongo pygmaeus pygmaeus namespace: ncbi_taxonomy is_a: NCBITaxon:9600 ! Pongo pygmaeus property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9603 name: Pongo sp. namespace: ncbi_taxonomy is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9606 name: Homo sapiens namespace: ncbi_taxonomy synonym: "human" EXACT common_name [] synonym: "man" EXACT common_name [] xref: NCIt:C14225 xref: NCIt:C14366 xref: SNOMEDCT:337915000 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: NCBITaxon:9612 name: Canis lupus namespace: ncbi_taxonomy synonym: "gray wolf" EXACT common_name [] synonym: "grey wolf" EXACT common_name [] xref: SNOMEDCT:36855005 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9615 name: Canis lupus familiaris namespace: ncbi_taxonomy synonym: "Canis canis" EXACT synonym [] synonym: "Canis domesticus" EXACT synonym [] synonym: "Canis familiaris" EXACT synonym [] synonym: "dog" EXACT common_name [] synonym: "dogs" EXACT common_name [] xref: MeSH:D004285 xref: NCIt:C14201 xref: SNOMEDCT:448771007 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9627 name: Vulpes vulpes namespace: ncbi_taxonomy synonym: "red fox" EXACT common_name [] synonym: "silver fox" EXACT common_name [] synonym: "Vulpes vulpes var." EXACT synonym [] xref: SNOMEDCT:18646008 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9643 name: Ursus americanus namespace: ncbi_taxonomy synonym: "American black bear" EXACT common_name [] synonym: "Euarctos americanus" EXACT synonym [] xref: SNOMEDCT:73549007 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:96645 name: Oscheius dolichuroides is_a: NCBITaxon:55887 ! Rhabditinae [Term] id: NCBITaxon:9669 name: Mustela putorius furo namespace: ncbi_taxonomy synonym: "black ferret" EXACT common_name [] synonym: "domestic ferret" EXACT common_name [] synonym: "ferret" EXACT common_name [] synonym: "Mustela furo" EXACT synonym [] synonym: "Mustela putoris furo" EXACT misspelling [] xref: NCIt:C77097 xref: SNOMEDCT:449310008 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9685 name: Felis catus namespace: ncbi_taxonomy synonym: "cat" EXACT common_name [] synonym: "cats" EXACT common_name [] synonym: "domestic cat" EXACT common_name [] synonym: "Felis domesticus" EXACT synonym [] synonym: "Felis silvestris catus" EXACT synonym [] xref: MeSH:D002415 xref: NCIt:C14191 xref: SNOMEDCT:448169003 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:96939 name: Vitis riparia namespace: ncbi_taxonomy synonym: "frost grape" EXACT common_name [] synonym: "riverbank grape" EXACT common_name [] synonym: "Vitis riparia Michx." EXACT synonym [] is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9704 name: Zalophus californianus namespace: ncbi_taxonomy synonym: "California sea lion" EXACT common_name [] synonym: "California sealion" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9739 name: Tursiops truncatus namespace: ncbi_taxonomy synonym: "Atlantic bottle-nosed dolphin" EXACT common_name [] synonym: "bottle-nosed dolphin" EXACT common_name [] synonym: "bottlenosed dolphin" EXACT common_name [] xref: MeSH:D050681 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9749 name: Delphinapterus leucas namespace: ncbi_taxonomy synonym: "beluga" EXACT common_name [] synonym: "beluga whale" EXACT common_name [] synonym: "white whale" EXACT common_name [] xref: MeSH:D050643 xref: SNOMEDCT:72567007 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9796 name: Equus caballus namespace: ncbi_taxonomy synonym: "domestic horse" EXACT common_name [] synonym: "equine" EXACT common_name [] synonym: "Equus ferus caballus" EXACT synonym [] synonym: "Equus przewalskii f. caballus" EXACT synonym [] synonym: "Equus przewalskii forma caballus" EXACT synonym [] synonym: "horse" EXACT common_name [] xref: NCIt:C14222 xref: SNOMEDCT:35354009 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:98039 name: Schrenkiella parvula def: "Schrenkiella parvula is a close relative of Arabidopsis (Arabidopsis thaliana) and Brassica crop species that thrives on the shores of Lake Tuz, Turkey, where soils accumulate high concentrations of multiple-ion salts." [] xref: PMID:24563282 is_a: NCBITaxon:33090 ! Viridiplantae property_value: IAO:0000117 "Laura Huerta" xsd:string [Term] id: NCBITaxon:9823 name: Sus scrofa namespace: ncbi_taxonomy synonym: "pig" EXACT common_name [] synonym: "pigs" EXACT common_name [] synonym: "Sus scrofus" EXACT misspelling [] synonym: "swine" EXACT common_name [] synonym: "wild boar" EXACT common_name [] xref: MeSH:D034421 xref: NCIt:C14280 xref: SNOMEDCT:78678003 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:98360 name: Salmonella enterica subsp. enterica serovar Dublin namespace: ncbi_taxonomy synonym: "Salmonella dublin" EXACT synonym [] synonym: "Salmonella enterica serovar Dublin" EXACT synonym [] xref: SNOMEDCT:62136003 is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9860 name: Cervus elaphus namespace: ncbi_taxonomy synonym: "elk" EXACT common_name [] synonym: "red deer" EXACT common_name [] xref: SNOMEDCT:48289008 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9863 name: Cervus nippon namespace: ncbi_taxonomy synonym: "sika deer" EXACT common_name [] xref: SNOMEDCT:87966007 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:98746 name: Festuca brevipila namespace: ncbi_taxonomy is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:98754 name: Festuca rubra subsp. fallax namespace: ncbi_taxonomy is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:98755 name: Festuca rubra subsp. littoralis namespace: ncbi_taxonomy is_a: NCBITaxon:33090 ! Viridiplantae property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:98794 name: Buchnera aphidicola (Schizaphis graminum) namespace: ncbi_taxonomy synonym: "Buchnera aphidicola (subsp. Schizaphis graminum)" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9913 name: Bos taurus namespace: ncbi_taxonomy synonym: "Bos bovis" EXACT synonym [] synonym: "Bos primigenius taurus" EXACT synonym [] synonym: "Bos Tauurus" EXACT misspelling [] synonym: "bovine" EXACT common_name [] synonym: "cattle" EXACT common_name [] synonym: "cow" EXACT common_name [] synonym: "domestic cattle" EXACT common_name [] synonym: "domestic cow" EXACT common_name [] xref: MeSH:D002417 xref: NCIt:C14192 xref: SNOMEDCT:34618005 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: NCBITaxon:9915 name: Bos indicus namespace: ncbi_taxonomy synonym: "Bos primigenius indicus" EXACT synonym [] synonym: "Bos taurus indicus" EXACT genbank_synonym [] synonym: "zebu" EXACT common_name [] synonym: "zebu cattle" EXACT common_name [] xref: SNOMEDCT:125091004 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9925 name: Capra hircus namespace: ncbi_taxonomy synonym: "Capra aegagrus hircus" EXACT synonym [] synonym: "Carpa hircus" EXACT misspelling [] synonym: "domestic goat" EXACT common_name [] synonym: "goat" EXACT common_name [] synonym: "goats" EXACT common_name [] synonym: "South African angora goat" EXACT misspelling [] xref: MeSH:D006041 xref: NCIt:C14210 xref: SNOMEDCT:125097000 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: NCBITaxon:99287 name: Salmonella enterica subsp. enterica serovar Typhimurium str. LT2 namespace: ncbi_taxonomy synonym: "Salmonella enterica subsp. enterica serovar Typhimurium LT2" EXACT equivalent_name [] synonym: "Salmonella enterica subsp. enterica serovar Typhimurium strain LT2" EXACT equivalent_name [] synonym: "Salmonella enterica subsp. enterica serovar Typhimurium strain LT2-LTL2" EXACT equivalent_name [] synonym: "Salmonella typhimurium LT2" EXACT synonym [] is_a: NCBITaxon:2 ! Bacteria property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9940 name: Ovis aries namespace: ncbi_taxonomy synonym: "domestic sheep" EXACT common_name [] synonym: "lambs" EXACT common_name [] synonym: "Ovis ammon aries" EXACT synonym [] synonym: "Ovis orientalis aries" EXACT synonym [] synonym: "Ovis ovis" EXACT synonym [] synonym: "sheep" EXACT common_name [] synonym: "wild sheep" EXACT common_name [] xref: MeSH:D012756 xref: NCIt:C14273 xref: SNOMEDCT:125099002 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:99822 name: Streptococcus dysgalactiae subsp. dysgalactiae namespace: ncbi_taxonomy xref: SNOMEDCT:113982002 is_a: NCBITaxon:2 ! Bacteria property_value: has_rank NCBITaxon:subspecies property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9986 name: Oryctolagus cuniculus namespace: ncbi_taxonomy synonym: "domestic rabbit" EXACT common_name [] synonym: "European rabbit" EXACT common_name [] synonym: "Japanese white rabbit" EXACT common_name [] synonym: "Lepus cuniculus" EXACT misnomer [] synonym: "rabbit" EXACT common_name [] synonym: "rabbits" EXACT common_name [] xref: MeSH:D011817 xref: NCIt:C14264 xref: NCIt:C76366 xref: SNOMEDCT:36571002 is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:99883 name: Tetraodon nigroviridis namespace: ncbi_taxonomy synonym: "spotted green pufferfish" EXACT common_name [] synonym: "Tetraodon nigroviridis Marion de Proce, 1822" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9995 name: Marmota monax namespace: ncbi_taxonomy synonym: "Marmata monax" EXACT misspelling [] synonym: "woodchuck" EXACT common_name [] synonym: "woodchucks" EXACT common_name [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCBITaxon:9999 name: Spermophilus parryii namespace: ncbi_taxonomy synonym: "Arctic ground squirrel" EXACT common_name [] synonym: "Citellus parryii" EXACT synonym [] synonym: "Spermophilus parryi" EXACT synonym [] is_a: NCBITaxon:2759 ! Eukaryota property_value: has_rank NCBITaxon:species property_value: IAO:0000117 "Class imported / merged by efoimporter" xsd:string [Term] id: NCIT:C103149 name: S-Adenosylhomocysteine comment: An amino acid derivative and an intermediate in the synthesis of cysteine and adenosine. S-adenosylhomocysteine (SAH) is formed upon S-adenosylmethionine (SAM)-dependent methylation (homocysteine methionine cycle) of biological molecules, such as DNA, RNA, and proteins. It is then hydrolyzed by S-adenosylhomocysteine hydrolase to form adenosine and homocysteine. As SAH modulates methylation dependent reactions, SAH levels and the ratio of SAH:SAM may be used to assess methylation status of macrocolecules. is_a: CHEBI:24431 ! chemical entity [Term] id: NCIT:C117245 name: decreased attention def: "Impaired ability to focus on a subject or idea." [] is_a: EFO:0000677 ! mental or behavioural disorder property_value: gwas:trait "true" xsd:boolean [Term] id: NCIT:C1178 name: Tilarginine comment: A pan-nitric oxide synthase (NOS) inhibitor, with potential immunomodulating and antineoplastic activities. Upon administration, tilarginine binds to and inhibits NOS, a free radical signaling molecule that promotes angiogenesis, metastasis, and immunosuppression in the tumor microenvironment (TME). Reduction in NOS activity may abrogate the immunosuppressive TME, enhance tumor antigen-specific immune response and inhibit tumor cell proliferation. is_a: CHEBI:24431 ! chemical entity [Term] id: NCIT:C535 name: Guanosine Diphosphate comment: A purine nucleotide diphosphate comprised of a guanine and a pyrophosphate moiety bound to a ribose moiety at its 1' and 5' sites, respectively. Guanosine diphosphate (GDP) is an inactive metabolite and intermediate in the synthesis of guanosine triphosphate (GTP). is_a: CHEBI:24431 ! chemical entity [Term] id: NCIT:C74532 name: nervousness def: "An uneasy psychological state; the anxious feeling you have when you have the jitters." [] synonym: "Feeling of Nervousnes" EXACT [] synonym: "Nervous" EXACT [] is_a: EFO:0000677 ! mental or behavioural disorder property_value: gwas:trait "true" xsd:boolean [Term] id: NCIT:C76714 name: Gentisic Acid is_a: CHEBI:24431 ! chemical entity [Term] id: NCIT:C83527 name: Alpha-Ketoglutaric Acid is_a: CHEBI:24431 ! chemical entity [Term] id: NCIT:C87277 name: Hippuric Acid comment: An acyl glycine produced by the conjugation of benzoic acid and glycine, found as a normal component in urine as a metabolite of aromatic compounds from food. Increased urine hippuric acid content may have antibacterial effects. is_a: CHEBI:24431 ! chemical entity [Term] id: NCIT:C95746 name: sleepiness def: "The sensation of struggling to remain awake." [] synonym: "Sleepy" EXACT [] is_a: EFO:0008568 ! Sleep Disorder property_value: gwas:trait "true" xsd:boolean [Term] id: OBA:1000312 name: vitamin D metabolic process quality def: "The quality of a vitamin D metabolic process." [obo:oba/patterns/entity_attribute_part_of] synonym: "quality of vitamin D metabolic process" EXACT [obo:oba/patterns/entity_attribute_part_of] is_a: GO:0006766 ! vitamin metabolic process [Term] id: OBA:2001000 name: age of onset of Alzheimer disease def: "The age at which Alzheimer disease manifestations first appear." [] synonym: "age Alzheimer disease symptoms begin" EXACT [] synonym: "age at onset of Alzheimer disease" EXACT [] is_a: OBA:2040165 ! age of onset of cognitive disorder intersection_of: HP:0003674 ! Onset intersection_of: characteristic_of MONDO:0004975 ! Alzheimer disease relationship: characteristic_of MONDO:0004975 ! Alzheimer disease property_value: gwas:trait "true" xsd:boolean [Term] id: OBA:2001001 name: age of onset of asthma def: "The age at which asthma manifestations first appear." [] synonym: "age asthma symptoms begin" EXACT [] synonym: "age at onset of asthma" EXACT [] is_a: HP:0003674 ! Onset intersection_of: HP:0003674 ! Onset intersection_of: characteristic_of MONDO:0004979 ! asthma relationship: characteristic_of MONDO:0004979 ! asthma property_value: gwas:trait "true" xsd:boolean [Term] id: OBA:2001002 name: age of onset of urinary bladder carcinoma def: "The age at which urinary bladder carcinoma manifestations first appear." [] synonym: "age at onset of urinary bladder carcinoma" EXACT [] synonym: "age urinary bladder carcinoma symptoms begin" EXACT [] is_a: OBA:2040153 ! age of onset of cancer intersection_of: HP:0003674 ! Onset intersection_of: characteristic_of MONDO:0004986 ! urinary bladder carcinoma relationship: characteristic_of MONDO:0004986 ! urinary bladder carcinoma [Term] id: OBA:2001004 name: age of onset of cataract def: "The age at which cataract manifestations first appear." [] synonym: "age at onset of cataract" EXACT [] synonym: "age cataract symptoms begin" EXACT [] is_a: HP:0003674 ! Onset intersection_of: HP:0003674 ! Onset intersection_of: characteristic_of MONDO:0005129 ! cataract relationship: characteristic_of MONDO:0005129 ! cataract property_value: gwas:trait "true" xsd:boolean [Term] id: OBA:2001007 name: age of onset of hyperlipidemia def: "The age at which hyperlipidemia manifestations first appear." [] synonym: "age at onset of hyperlipidemia" EXACT [] synonym: "age hyperlipidemia symptoms begin" EXACT [] is_a: HP:0003674 ! Onset intersection_of: HP:0003674 ! Onset intersection_of: characteristic_of MONDO:0021187 ! hyperlipidemia relationship: characteristic_of MONDO:0021187 ! hyperlipidemia [Term] id: OBA:2001008 name: age of onset of osteoarthritis def: "The age at which osteoarthritis manifestations first appear." [] synonym: "age at onset of osteoarthritis" EXACT [] synonym: "age osteoarthritis symptoms begin" EXACT [] is_a: HP:0003674 ! Onset intersection_of: HP:0003674 ! Onset intersection_of: characteristic_of MONDO:0005178 ! osteoarthritis relationship: characteristic_of MONDO:0005178 ! osteoarthritis property_value: gwas:trait "true" xsd:boolean [Term] id: OBA:2001009 name: age of onset of Parkinson disease def: "The age at which Parkinson disease manifestations first appear." [] synonym: "age at onset of Parkinson disease" EXACT [] synonym: "age Parkinson disease symptoms begin" EXACT [] is_a: HP:0003674 ! Onset intersection_of: HP:0003674 ! Onset intersection_of: characteristic_of MONDO:0005180 ! Parkinson disease relationship: characteristic_of MONDO:0005180 ! Parkinson disease property_value: gwas:trait "true" xsd:boolean [Term] id: OBA:2001010 name: age of onset of essential hypertension def: "The age at which essential hypertension manifestations first appear." [] synonym: "age at onset of essential hypertension" EXACT [] synonym: "age essential hypertension symptoms begin" EXACT [] is_a: OBA:2040159 ! age of onset of hypertensive disorder intersection_of: HP:0003674 ! Onset intersection_of: characteristic_of MONDO:0001134 ! essential hypertension relationship: characteristic_of MONDO:0001134 ! essential hypertension [Term] id: OBA:2001011 name: age of onset of schizophrenia def: "The age at which schizophrenia manifestations first appear." [] synonym: "age at onset of schizophrenia" EXACT [] synonym: "age schizophrenia symptoms begin" EXACT [] is_a: OBA:2040165 ! age of onset of cognitive disorder intersection_of: HP:0003674 ! Onset intersection_of: characteristic_of MONDO:0005090 ! schizophrenia relationship: characteristic_of MONDO:0005090 ! schizophrenia property_value: gwas:trait "true" xsd:boolean [Term] id: OBA:2001012 name: age of onset of type 1 diabetes mellitus def: "The age at which type 1 diabetes mellitus manifestations first appear." [] synonym: "age at onset of type 1 diabetes mellitus" EXACT [] synonym: "age type 1 diabetes mellitus symptoms begin" EXACT [] is_a: HP:0003674 ! Onset intersection_of: HP:0003674 ! Onset intersection_of: characteristic_of MONDO:0005147 ! type 1 diabetes mellitus relationship: characteristic_of MONDO:0005147 ! type 1 diabetes mellitus property_value: gwas:trait "true" xsd:boolean [Term] id: OBA:2001013 name: age of onset of type 2 diabetes mellitus def: "The age at which type 2 diabetes mellitus manifestations first appear." [] synonym: "age at onset of type 2 diabetes mellitus" EXACT [] synonym: "age type 2 diabetes mellitus symptoms begin" EXACT [] is_a: HP:0003674 ! Onset intersection_of: HP:0003674 ! Onset intersection_of: characteristic_of MONDO:0005148 ! type 2 diabetes mellitus relationship: characteristic_of MONDO:0005148 ! type 2 diabetes mellitus property_value: gwas:trait "true" xsd:boolean [Term] id: OBA:2001015 name: age of onset of childhood onset asthma def: "The age at which childhood onset asthma manifestations first appear." [] synonym: "age at onset of childhood onset asthma" EXACT [] synonym: "age childhood onset asthma symptoms begin" EXACT [] is_a: OBA:2001001 ! age of onset of asthma intersection_of: HP:0003674 ! Onset intersection_of: characteristic_of MONDO:0005405 ! childhood onset asthma relationship: characteristic_of MONDO:0005405 ! childhood onset asthma property_value: gwas:trait "true" xsd:boolean [Term] id: OBA:2001016 name: age of onset of alcohol dependence def: "The age at which alcohol dependence manifestations first appear." [] synonym: "age alcohol dependence symptoms begin" EXACT [] synonym: "age at onset of alcohol dependence" EXACT [] is_a: HP:0003674 ! Onset intersection_of: HP:0003674 ! Onset intersection_of: characteristic_of MONDO:0007079 ! alcohol dependence relationship: characteristic_of MONDO:0007079 ! alcohol dependence property_value: gwas:trait "true" xsd:boolean [Term] id: OBA:2001017 name: age of onset of allergic disease def: "The age at which allergic disease manifestations first appear." [] synonym: "age allergic disease symptoms begin" EXACT [] synonym: "age at onset of allergic disease" EXACT [] is_a: HP:0003674 ! Onset intersection_of: HP:0003674 ! Onset intersection_of: characteristic_of MONDO:0005271 ! allergic disease relationship: characteristic_of MONDO:0005271 ! allergic disease property_value: gwas:trait "true" xsd:boolean [Term] id: OBA:2001018 name: age of onset of amyotrophic lateral sclerosis def: "The age at which amyotrophic lateral sclerosis manifestations first appear." [] synonym: "age amyotrophic lateral sclerosis symptoms begin" EXACT [] synonym: "age at onset of amyotrophic lateral sclerosis" EXACT [] is_a: HP:0003674 ! Onset intersection_of: HP:0003674 ! Onset intersection_of: characteristic_of MONDO:0004976 ! amyotrophic lateral sclerosis relationship: characteristic_of MONDO:0004976 ! amyotrophic lateral sclerosis property_value: gwas:trait "true" xsd:boolean [Term] id: OBA:2001019 name: age of onset of bipolar disorder def: "The age at which bipolar disorder manifestations first appear." [] synonym: "age at onset of bipolar disorder" EXACT [] synonym: "age bipolar disorder symptoms begin" EXACT [] is_a: HP:0003674 ! Onset property_value: gwas:trait "true" xsd:boolean [Term] id: OBA:2001020 name: age of onset of Buruli ulcer disease def: "The age at which Buruli ulcer disease manifestations first appear." [] synonym: "age at onset of Buruli ulcer disease" EXACT [] synonym: "age Buruli ulcer disease symptoms begin" EXACT [] is_a: HP:0003674 ! Onset intersection_of: HP:0003674 ! Onset intersection_of: characteristic_of MONDO:0000327 ! Buruli ulcer disease relationship: characteristic_of MONDO:0000327 ! Buruli ulcer disease property_value: gwas:trait "true" xsd:boolean [Term] id: OBA:2001022 name: age of onset of frontotemporal dementia def: "The age at which frontotemporal dementia manifestations first appear." [] synonym: "age at onset of frontotemporal dementia" EXACT [] synonym: "age frontotemporal dementia symptoms begin" EXACT [] is_a: OBA:2040165 ! age of onset of cognitive disorder intersection_of: HP:0003674 ! Onset intersection_of: characteristic_of MONDO:0017276 ! frontotemporal dementia relationship: characteristic_of MONDO:0017276 ! frontotemporal dementia property_value: gwas:trait "true" xsd:boolean [Term] id: OBA:2001024 name: age of onset of Huntington disease def: "The age at which Huntington disease manifestations first appear." [] synonym: "age at onset of Huntington disease" EXACT [] synonym: "age Huntington disease symptoms begin" EXACT [] is_a: HP:0003674 ! Onset intersection_of: HP:0003674 ! Onset intersection_of: characteristic_of MONDO:0007739 ! Huntington disease relationship: characteristic_of MONDO:0007739 ! Huntington disease property_value: gwas:trait "true" xsd:boolean [Term] id: OBA:2001026 name: age of onset of migraine disorder def: "The age at which migraine disorder manifestations first appear." [] synonym: "age at onset of migraine disorder" EXACT [] synonym: "age migraine disorder symptoms begin" EXACT [] is_a: HP:0003674 ! Onset intersection_of: HP:0003674 ! Onset intersection_of: characteristic_of MONDO:0005277 ! migraine disorder relationship: characteristic_of MONDO:0005277 ! migraine disorder property_value: gwas:trait "true" xsd:boolean [Term] id: OBA:2001027 name: age of onset of migraine with aura def: "The age at which migraine with aura manifestations first appear." [] synonym: "age at onset of migraine with aura" EXACT [] synonym: "age migraine with aura symptoms begin" EXACT [] is_a: OBA:2001026 ! age of onset of migraine disorder intersection_of: HP:0003674 ! Onset intersection_of: characteristic_of MONDO:0005475 ! migraine with aura relationship: characteristic_of MONDO:0005475 ! migraine with aura property_value: gwas:trait "true" xsd:boolean [Term] id: OBA:2001028 name: age of onset of migraine without aura def: "The age at which migraine without aura manifestations first appear." [] synonym: "age at onset of migraine without aura" EXACT [] synonym: "age migraine without aura symptoms begin" EXACT [] is_a: OBA:2001026 ! age of onset of migraine disorder intersection_of: HP:0003674 ! Onset intersection_of: characteristic_of MONDO:0100431 ! migraine without aura relationship: characteristic_of MONDO:0100431 ! migraine without aura property_value: gwas:trait "true" xsd:boolean [Term] id: OBA:2001029 name: age of onset of multiple sclerosis def: "The age at which multiple sclerosis manifestations first appear." [] synonym: "age at onset of multiple sclerosis" EXACT [] synonym: "age multiple sclerosis symptoms begin" EXACT [] is_a: HP:0003674 ! Onset intersection_of: HP:0003674 ! Onset intersection_of: characteristic_of MONDO:0005301 ! multiple sclerosis relationship: characteristic_of MONDO:0005301 ! multiple sclerosis property_value: gwas:trait "true" xsd:boolean [Term] id: OBA:2001030 name: age of onset of myopia def: "The age at which myopia manifestations first appear." [] synonym: "age at onset of myopia" EXACT [] synonym: "age myopia symptoms begin" EXACT [] is_a: OBA:2001031 ! age of onset of refractive error intersection_of: HP:0003674 ! Onset intersection_of: characteristic_of MONDO:0001384 ! myopia relationship: characteristic_of MONDO:0001384 ! myopia property_value: gwas:trait "true" xsd:boolean [Term] id: OBA:2001031 name: age of onset of refractive error def: "The age at which refractive error manifestations first appear." [] synonym: "age at onset of refractive error" EXACT [] synonym: "age refractive error symptoms begin" EXACT [] is_a: HP:0003674 ! Onset intersection_of: HP:0003674 ! Onset intersection_of: characteristic_of MONDO:0004892 ! refractive error relationship: characteristic_of MONDO:0004892 ! refractive error [Term] id: OBA:2001032 name: age of onset of narcolepsy-cataplexy syndrome def: "The age at which narcolepsy-cataplexy syndrome manifestations first appear." [] synonym: "age at onset of narcolepsy-cataplexy syndrome" EXACT [] synonym: "age narcolepsy-cataplexy syndrome symptoms begin" EXACT [] is_a: HP:0003674 ! Onset intersection_of: HP:0003674 ! Onset intersection_of: characteristic_of MONDO:0016158 ! narcolepsy-cataplexy syndrome relationship: characteristic_of MONDO:0016158 ! narcolepsy-cataplexy syndrome property_value: gwas:trait "true" xsd:boolean [Term] id: OBA:2001033 name: age of onset of coronary atherosclerosis def: "The age at which coronary atherosclerosis manifestations first appear." [] synonym: "age at onset of coronary atherosclerosis" EXACT [] synonym: "age coronary atherosclerosis symptoms begin" EXACT [] is_a: HP:0003674 ! Onset intersection_of: HP:0003674 ! Onset intersection_of: characteristic_of MONDO:0021661 ! coronary atherosclerosis relationship: characteristic_of MONDO:0021661 ! coronary atherosclerosis [Term] id: OBA:2020007 name: level of triacylglycerol (56:6) in blood serum def: "The amount of a triacylglycerol 56:6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum triacylglycerol 56:6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2045035 ! level of triglyceride in blood serum [Term] id: OBA:2040153 name: age of onset of cancer def: "The age at which cancer manifestations first appear." [] synonym: "age at onset of cancer" EXACT [] synonym: "age cancer symptoms begin" EXACT [] is_a: HP:0003674 ! Onset [Term] id: OBA:2040154 name: age of onset of glaucoma def: "The age at which glaucoma manifestations first appear." [] synonym: "age at onset of glaucoma" EXACT [] synonym: "age glaucoma symptoms begin" EXACT [] is_a: HP:0003674 ! Onset [Term] id: OBA:2040155 name: age of onset of stroke disorder def: "The age at which stroke disorder manifestations first appear." [] synonym: "age at onset of stroke disorder" EXACT [] synonym: "age stroke disorder symptoms begin" EXACT [] is_a: HP:0003674 ! Onset intersection_of: HP:0003674 ! Onset intersection_of: characteristic_of MONDO:0005098 ! stroke disorder relationship: characteristic_of MONDO:0005098 ! stroke disorder [Term] id: OBA:2040156 name: age of onset of coronary stenosis def: "The age at which coronary stenosis manifestations first appear." [] synonym: "age at onset of coronary stenosis" EXACT [] synonym: "age coronary stenosis symptoms begin" EXACT [] is_a: HP:0003674 ! Onset [Term] id: OBA:2040157 name: age of onset of glioblastoma def: "The age at which glioblastoma manifestations first appear." [] synonym: "age at onset of glioblastoma" EXACT [] synonym: "age glioblastoma symptoms begin" EXACT [] is_a: OBA:2040153 ! age of onset of cancer intersection_of: HP:0003674 ! Onset intersection_of: characteristic_of MONDO:0018177 ! glioblastoma relationship: characteristic_of MONDO:0018177 ! glioblastoma [Term] id: OBA:2040158 name: age of onset of systemic lupus erythematosus def: "The age at which systemic lupus erythematosus manifestations first appear." [] synonym: "age at onset of systemic lupus erythematosus" EXACT [] synonym: "age systemic lupus erythematosus symptoms begin" EXACT [] is_a: HP:0003674 ! Onset [Term] id: OBA:2040159 name: age of onset of hypertensive disorder def: "The age at which hypertensive disorder manifestations first appear." [] synonym: "age at onset of hypertensive disorder" EXACT [] synonym: "age hypertensive disorder symptoms begin" EXACT [] is_a: HP:0003674 ! Onset intersection_of: HP:0003674 ! Onset intersection_of: characteristic_of MONDO:0005044 ! hypertensive disorder relationship: characteristic_of MONDO:0005044 ! hypertensive disorder [Term] id: OBA:2040160 name: age of onset of Machado-Joseph disease def: "The age at which Machado-Joseph disease manifestations first appear." [] synonym: "age at onset of Machado-Joseph disease" EXACT [] synonym: "age Machado-Joseph disease symptoms begin" EXACT [] is_a: OBA:2040165 ! age of onset of cognitive disorder intersection_of: HP:0003674 ! Onset intersection_of: characteristic_of MONDO:0007182 ! Machado-Joseph disease relationship: characteristic_of MONDO:0007182 ! Machado-Joseph disease [Term] id: OBA:2040161 name: age of onset of major depressive disorder def: "The age at which major depressive disorder manifestations first appear." [] synonym: "age at onset of major depressive disorder" EXACT [] synonym: "age major depressive disorder symptoms begin" EXACT [] is_a: OBA:2040166 ! age of onset of depressive disorder intersection_of: HP:0003674 ! Onset intersection_of: characteristic_of MONDO:0002009 ! major depressive disorder relationship: characteristic_of MONDO:0002009 ! major depressive disorder [Term] id: OBA:2040165 name: age of onset of cognitive disorder def: "The age at which cognitive disorder manifestations first appear." [] synonym: "age at onset of cognitive disorder" EXACT [] synonym: "age cognitive disorder symptoms begin" EXACT [] is_a: HP:0003674 ! Onset property_value: gwas:trait "true" xsd:boolean [Term] id: OBA:2040166 name: age of onset of depressive disorder def: "The age at which depressive disorder manifestations first appear." [] synonym: "age at onset of depressive disorder" EXACT [] synonym: "age depressive disorder symptoms begin" EXACT [] is_a: HP:0003674 ! Onset intersection_of: HP:0003674 ! Onset intersection_of: characteristic_of MONDO:0002050 ! depressive disorder relationship: characteristic_of MONDO:0002050 ! depressive disorder property_value: gwas:trait "true" xsd:boolean [Term] id: OBA:2040167 name: age of onset of cervical dystonia def: "The age at which cervical dystonia manifestations first appear." [] synonym: "age at onset of cervical dystonia" EXACT [] synonym: "age cervical dystonia symptoms begin" EXACT [] is_a: HP:0003674 ! Onset intersection_of: HP:0003674 ! Onset intersection_of: characteristic_of MONDO:0000481 ! cervical dystonia relationship: characteristic_of MONDO:0000481 ! cervical dystonia property_value: gwas:trait "true" xsd:boolean [Term] id: OBA:2040177 name: level of ceramide def: "The amount of a ceramide when measured in anatomical entity." [AUTO:patterns/patterns/entity_attribute_location] synonym: "anatomical entity ceramide amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount relationship: characteristic_of CHEBI:17761 ! ceramide [Term] id: OBA:2040178 name: level of diglyceride def: "The amount of a diglyceride when measured in anatomical entity." [AUTO:patterns/patterns/entity_attribute_location] synonym: "anatomical entity diglyceride amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040179 name: level of phosphatidylcholine def: "The amount of a phosphatidylcholine when measured in anatomical entity." [AUTO:patterns/patterns/entity_attribute_location] synonym: "anatomical entity phosphatidylcholine amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040180 name: level of phosphatidylethanolamine def: "The amount of a phosphatidylethanolamine when measured in anatomical entity." [AUTO:patterns/patterns/entity_attribute_location] synonym: "anatomical entity phosphatidylethanolamine amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040181 name: level of phosphatidylinositol def: "The amount of a phosphatidylinositol when measured in anatomical entity." [AUTO:patterns/patterns/entity_attribute_location] synonym: "anatomical entity phosphatidylinositol amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040182 name: level of sphingomyelin def: "The amount of a sphingomyelin when measured in anatomical entity." [AUTO:patterns/patterns/entity_attribute_location] synonym: "anatomical entity sphingomyelin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount relationship: characteristic_of CHEBI:64583 ! sphingomyelin [Term] id: OBA:2040183 name: level of triglyceride def: "The amount of a triglyceride when measured in anatomical entity." [AUTO:patterns/patterns/entity_attribute_location] synonym: "anatomical entity triglyceride amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount relationship: characteristic_of CHEBI:17855 ! triglyceride [Term] id: OBA:2040184 name: level of chordin in blood serum def: "The amount of a chordin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum chordin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040185 name: level of BMP receptor type-1B in blood serum def: "The amount of a BMP receptor type-1B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum BMP receptor type-1B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040186 name: level of DNA-binding protein inhibitor ID-1 in blood serum def: "The amount of a DNA-binding protein inhibitor ID-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA-binding protein inhibitor ID-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040187 name: level of DNA-binding protein inhibitor ID-2 in blood serum def: "The amount of a DNA-binding protein inhibitor ID-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA-binding protein inhibitor ID-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040188 name: level of TGF-beta receptor type-1 in blood serum def: "The amount of a TGF-beta receptor type-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum TGF-beta receptor type-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040189 name: level of activin receptor type-2A in blood serum def: "The amount of a activin receptor type-2A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum activin receptor type-2A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040190 name: level of activin receptor type-2B in blood serum def: "The amount of a activin receptor type-2B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum activin receptor type-2B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040191 name: level of cartilage oligomeric matrix protein in blood serum def: "The amount of a cartilage oligomeric matrix protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cartilage oligomeric matrix protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040192 name: level of CREB-binding protein in blood serum def: "The amount of a CREB-binding protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CREB-binding protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040193 name: level of fungal/metazoan cullin-1 in blood serum def: "The amount of a fungal/metazoan cullin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum fungal/metazoan cullin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040194 name: level of cyclin-dependent kinase 4 inhibitor B in blood serum def: "The amount of a cyclin-dependent kinase 4 inhibitor B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cyclin-dependent kinase 4 inhibitor B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040195 name: level of nodal protein in blood serum def: "The amount of a nodal protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nodal protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040196 name: level of pituitary homeobox 2 in blood serum def: "The amount of a pituitary homeobox 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pituitary homeobox 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040197 name: level of retinoblastoma-like protein 1 in blood serum def: "The amount of a retinoblastoma-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum retinoblastoma-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040198 name: level of retinoblastoma-like protein 2 in blood serum def: "The amount of a retinoblastoma-like protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum retinoblastoma-like protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040199 name: level of Rho-associated protein kinase 2 in blood serum def: "The amount of a Rho-associated protein kinase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Rho-associated protein kinase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040200 name: level of ribosomal protein S6 kinase beta-1 in blood serum def: "The amount of a ribosomal protein S6 kinase beta-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ribosomal protein S6 kinase beta-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040201 name: level of ribosomal protein S6 kinase beta-2 in blood serum def: "The amount of a ribosomal protein S6 kinase beta-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ribosomal protein S6 kinase beta-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040202 name: level of smad4 in blood serum def: "The amount of a smad4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum smad4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040203 name: level of thrombospondin-3 in blood serum def: "The amount of a thrombospondin-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum thrombospondin-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040204 name: level of bone morphogenetic protein 2 in blood serum def: "The amount of a bone morphogenetic protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum bone morphogenetic protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040205 name: level of bone morphogenetic protein 4 in blood serum def: "The amount of a bone morphogenetic protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum bone morphogenetic protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040206 name: level of bone morphogenetic protein 5 in blood serum def: "The amount of a bone morphogenetic protein 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum bone morphogenetic protein 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040207 name: level of bone morphogenetic protein 8B in blood serum def: "The amount of a bone morphogenetic protein 8B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum bone morphogenetic protein 8B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040208 name: level of GTP-binding protein RhoA in blood serum def: "The amount of a GTP-binding protein RhoA when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum GTP-binding protein RhoA amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040209 name: level of activin/inhibin beta A chain in blood serum def: "The amount of a activin/inhibin beta A chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum activin/inhibin beta A chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040210 name: level of activin/inhibin beta B chain in blood serum def: "The amount of a activin/inhibin beta B chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum activin/inhibin beta B chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040211 name: level of activin/inhibin beta C chain in blood serum def: "The amount of a activin/inhibin beta C chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum activin/inhibin beta C chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040212 name: level of growth/differentiation factor 7 in blood serum def: "The amount of a growth/differentiation factor 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum growth/differentiation factor 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040213 name: level of lefty 2 in blood serum def: "The amount of a lefty 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lefty 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040214 name: level of E3 ubiquitin-protein ligase SMURF1 in blood serum def: "The amount of a E3 ubiquitin-protein ligase SMURF1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 ubiquitin-protein ligase SMURF1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040215 name: level of E3 ubiquitin-protein ligase SMURF2 in blood serum def: "The amount of a E3 ubiquitin-protein ligase SMURF2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 ubiquitin-protein ligase SMURF2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040216 name: level of smad1 in blood serum def: "The amount of a smad1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum smad1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040217 name: level of smad5 in blood serum def: "The amount of a smad5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum smad5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040218 name: level of cyclic nucleotide-gated olfactory channel in blood serum def: "The amount of a cyclic nucleotide-gated olfactory channel when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cyclic nucleotide-gated olfactory channel amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040219 name: level of platelet-derived growth factor D in blood serum def: "The amount of a platelet-derived growth factor D when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum platelet-derived growth factor D amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040220 name: level of potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 in blood serum def: "The amount of a potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040221 name: level of small conductance calcium-activated potassium channel protein 1 in blood serum def: "The amount of a small conductance calcium-activated potassium channel protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum small conductance calcium-activated potassium channel protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040222 name: level of voltage-gated potassium channel KCNF1 in blood serum def: "The amount of a voltage-gated potassium channel KCNF1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum voltage-gated potassium channel KCNF1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040223 name: level of voltage-gated potassium channel subfamily G member 4 in blood serum def: "The amount of a voltage-gated potassium channel subfamily G member 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum voltage-gated potassium channel subfamily G member 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040224 name: level of voltage-gated potassium channel subunit KCNA10 in blood serum def: "The amount of a voltage-gated potassium channel subunit KCNA10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum voltage-gated potassium channel subunit KCNA10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040225 name: level of CD34 molecule in blood serum def: "The amount of a CD34 molecule when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CD34 molecule amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040226 name: level of integrin alpha-2 in blood serum def: "The amount of a integrin alpha-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum integrin alpha-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040227 name: level of integrin alpha-L in blood serum def: "The amount of a integrin alpha-L when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum integrin alpha-L amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040228 name: level of integrin alpha-M in blood serum def: "The amount of a integrin alpha-M when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum integrin alpha-M amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040229 name: level of CD3 epsilon in blood serum def: "The amount of a CD3 epsilon when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CD3 epsilon amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040230 name: level of CD3 gamma in blood serum def: "The amount of a CD3 gamma when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CD3 gamma amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040231 name: level of neural cell adhesion molecule 1 in blood serum def: "The amount of a neural cell adhesion molecule 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neural cell adhesion molecule 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040232 name: level of T-cell surface glycoprotein CD3 in blood serum def: "The amount of a T-cell surface glycoprotein CD3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum T-cell surface glycoprotein CD3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040233 name: level of ezrin in blood serum def: "The amount of a ezrin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ezrin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040234 name: level of WW domain-containing oxidoreductase in blood serum def: "The amount of a WW domain-containing oxidoreductase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum WW domain-containing oxidoreductase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040235 name: level of Na(+)/H(+) exchange regulatory cofactor NHE-RF1 in blood serum def: "The amount of a Na(+)/H(+) exchange regulatory cofactor NHE-RF1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Na(+)/H(+) exchange regulatory cofactor NHE-RF1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040236 name: level of cystic fibrosis transmembrane conductance regulator in blood serum def: "The amount of a cystic fibrosis transmembrane conductance regulator when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cystic fibrosis transmembrane conductance regulator amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040237 name: level of CD2 molecule in blood serum def: "The amount of a CD2 molecule when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CD2 molecule amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040238 name: level of T-cell surface glycoprotein CD8 alpha chain in blood serum def: "The amount of a T-cell surface glycoprotein CD8 alpha chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum T-cell surface glycoprotein CD8 alpha chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040239 name: level of T-cell surface glycoprotein CD8 beta chain in blood serum def: "The amount of a T-cell surface glycoprotein CD8 beta chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum T-cell surface glycoprotein CD8 beta chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040240 name: level of immunoglobulin superfamily member 8 in blood serum def: "The amount of a immunoglobulin superfamily member 8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum immunoglobulin superfamily member 8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040241 name: level of lymphocyte function-associated antigen 3 in blood serum def: "The amount of a lymphocyte function-associated antigen 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lymphocyte function-associated antigen 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040242 name: level of 5-hydroxytryptamine receptor 6 in blood serum def: "The amount of a 5-hydroxytryptamine receptor 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 5-hydroxytryptamine receptor 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040243 name: level of 5-hydroxytryptamine receptor 7 in blood serum def: "The amount of a 5-hydroxytryptamine receptor 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 5-hydroxytryptamine receptor 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040244 name: level of interleukin-25 in blood serum def: "The amount of a interleukin-25 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-25 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040245 name: level of cell surface glycoprotein MUC18 in blood serum def: "The amount of a cell surface glycoprotein MUC18 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cell surface glycoprotein MUC18 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040246 name: level of interleukin-1 alpha in blood serum def: "The amount of a interleukin-1 alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-1 alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040247 name: level of interleukin-17C in blood serum def: "The amount of a interleukin-17C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-17C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040248 name: level of prosaposin receptor GPR37 in blood serum def: "The amount of a prosaposin receptor GPR37 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum prosaposin receptor GPR37 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040249 name: level of Toll-like receptor 10 in blood serum def: "The amount of a Toll-like receptor 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Toll-like receptor 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040250 name: level of Toll-like receptor 3 in blood serum def: "The amount of a Toll-like receptor 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Toll-like receptor 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040251 name: level of Toll-like receptor 5 in blood serum def: "The amount of a Toll-like receptor 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Toll-like receptor 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040252 name: level of 5-hydroxytryptamine receptor 2A in blood serum def: "The amount of a 5-hydroxytryptamine receptor 2A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 5-hydroxytryptamine receptor 2A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040253 name: level of adhesion G protein-coupled receptor L3 in blood serum def: "The amount of a adhesion G protein-coupled receptor L3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum adhesion G protein-coupled receptor L3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040254 name: level of disintegrin and metalloproteinase domain-containing protein 8 in blood serum def: "The amount of a disintegrin and metalloproteinase domain-containing protein 8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum disintegrin and metalloproteinase domain-containing protein 8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040255 name: level of ALK tyrosine kinase receptor in blood serum def: "The amount of a ALK tyrosine kinase receptor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ALK tyrosine kinase receptor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040256 name: level of B- and T-lymphocyte attenuator in blood serum def: "The amount of a B- and T-lymphocyte attenuator when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum B- and T-lymphocyte attenuator amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040257 name: level of B-cell antigen receptor complex-associated protein alpha chain in blood serum def: "The amount of a B-cell antigen receptor complex-associated protein alpha chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum B-cell antigen receptor complex-associated protein alpha chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040258 name: level of B-cell antigen receptor complex-associated protein beta chain in blood serum def: "The amount of a B-cell antigen receptor complex-associated protein beta chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum B-cell antigen receptor complex-associated protein beta chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040259 name: level of CD72 molecule in blood serum def: "The amount of a CD72 molecule when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CD72 molecule amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040260 name: level of C-type lectin domain family 4 member C in blood serum def: "The amount of a C-type lectin domain family 4 member C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum C-type lectin domain family 4 member C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040261 name: level of CD320 molecule in blood serum def: "The amount of a CD320 molecule when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CD320 molecule amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040262 name: level of CD44 molecule in blood serum def: "The amount of a CD44 molecule when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CD44 molecule amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040263 name: level of interleukin-31 in blood serum def: "The amount of a interleukin-31 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-31 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040264 name: level of interleukin-7 in blood serum def: "The amount of a interleukin-7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040265 name: level of alpha-taxilin in blood serum def: "The amount of a alpha-taxilin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-taxilin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040266 name: level of bone marrow stromal antigen 2 in blood serum def: "The amount of a bone marrow stromal antigen 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum bone marrow stromal antigen 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040267 name: level of carcinoembryonic antigen-related cell adhesion molecule 3 in blood serum def: "The amount of a carcinoembryonic antigen-related cell adhesion molecule 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum carcinoembryonic antigen-related cell adhesion molecule 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040268 name: level of carcinoembryonic antigen-related cell adhesion molecule 8 in blood serum def: "The amount of a carcinoembryonic antigen-related cell adhesion molecule 8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum carcinoembryonic antigen-related cell adhesion molecule 8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040269 name: level of complement receptor type 1 in blood serum def: "The amount of a complement receptor type 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum complement receptor type 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040270 name: level of complement receptor type 2 in blood serum def: "The amount of a complement receptor type 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum complement receptor type 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040271 name: level of dipeptidyl peptidase 4 in blood serum def: "The amount of a dipeptidyl peptidase 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dipeptidyl peptidase 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040272 name: level of CD69 molecule in blood serum def: "The amount of a CD69 molecule when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CD69 molecule amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040273 name: level of endosialin in blood serum def: "The amount of a endosialin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum endosialin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040274 name: level of endothelial protein C receptor in blood serum def: "The amount of a endothelial protein C receptor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum endothelial protein C receptor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040275 name: level of forkhead box protein P3 in blood serum def: "The amount of a forkhead box protein P3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum forkhead box protein P3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040276 name: level of granulocyte-macrophage colony-stimulating factor receptor subunit alpha in blood serum def: "The amount of a granulocyte-macrophage colony-stimulating factor receptor subunit alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum granulocyte-macrophage colony-stimulating factor receptor subunit alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040277 name: level of intercellular adhesion molecule 4 in blood serum def: "The amount of a intercellular adhesion molecule 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum intercellular adhesion molecule 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040278 name: level of interleukin-12 subunit alpha in blood serum def: "The amount of a interleukin-12 subunit alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-12 subunit alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040279 name: level of interleukin-12 subunit beta in blood serum def: "The amount of a interleukin-12 subunit beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-12 subunit beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040280 name: level of interleukin-13 in blood serum def: "The amount of a interleukin-13 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-13 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040281 name: level of interleukin-15 in blood serum def: "The amount of a interleukin-15 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-15 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040282 name: level of interleukin-16 in blood serum def: "The amount of a interleukin-16 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-16 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040283 name: level of interleukin-17 receptor A in blood serum def: "The amount of a interleukin-17 receptor A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-17 receptor A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040284 name: level of interleukin-18 receptor 1 in blood serum def: "The amount of a interleukin-18 receptor 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-18 receptor 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040285 name: level of interleukin-18 receptor accessory protein in blood serum def: "The amount of a interleukin-18 receptor accessory protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-18 receptor accessory protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040286 name: level of interleukin-2 in blood serum def: "The amount of a interleukin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040287 name: level of interleukin-2 receptor subunit beta in blood serum def: "The amount of a interleukin-2 receptor subunit beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-2 receptor subunit beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040288 name: level of interleukin-21 in blood serum def: "The amount of a interleukin-21 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-21 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040289 name: level of interleukin-27 subunit beta in blood serum def: "The amount of a interleukin-27 subunit beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-27 subunit beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040290 name: level of interleukin-32 in blood serum def: "The amount of a interleukin-32 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-32 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040291 name: level of interleukin-4 in blood serum def: "The amount of a interleukin-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040292 name: level of interleukin-5 in blood serum def: "The amount of a interleukin-5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040293 name: level of interleukin-6 receptor subunit alpha in blood serum def: "The amount of a interleukin-6 receptor subunit alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-6 receptor subunit alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040294 name: level of leukocyte immunoglobulin-like receptor subfamily A member 4 in blood serum def: "The amount of a leukocyte immunoglobulin-like receptor subfamily A member 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leukocyte immunoglobulin-like receptor subfamily A member 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040295 name: level of membrane cofactor protein in blood serum def: "The amount of a membrane cofactor protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum membrane cofactor protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040296 name: level of tumor necrosis factor receptor superfamily member 16 in blood serum def: "The amount of a tumor necrosis factor receptor superfamily member 16 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tumor necrosis factor receptor superfamily member 16 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040297 name: level of C-type lectin domain family 10 member A in blood serum def: "The amount of a C-type lectin domain family 10 member A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum C-type lectin domain family 10 member A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040298 name: level of CMRF35-like molecule 2 in blood serum def: "The amount of a CMRF35-like molecule 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CMRF35-like molecule 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040299 name: level of CMRF35-like molecule 8 in blood serum def: "The amount of a CMRF35-like molecule 8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CMRF35-like molecule 8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040300 name: level of galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 in blood serum def: "The amount of a galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040301 name: level of frizzled-4 in blood serum def: "The amount of a frizzled-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum frizzled-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040302 name: level of frizzled-9 in blood serum def: "The amount of a frizzled-9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum frizzled-9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040303 name: level of interleukin-28B in blood serum def: "The amount of a interleukin-28B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-28B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040304 name: level of interleukin-26 in blood serum def: "The amount of a interleukin-26 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-26 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040305 name: level of low affinity immunoglobulin gamma Fc region receptor III-A in blood serum def: "The amount of a low affinity immunoglobulin gamma Fc region receptor III-A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum low affinity immunoglobulin gamma Fc region receptor III-A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040306 name: level of probable G-protein coupled receptor 101 in blood serum def: "The amount of a probable G-protein coupled receptor 101 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum probable G-protein coupled receptor 101 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040307 name: level of G-protein coupled receptor 135 in blood serum def: "The amount of a G-protein coupled receptor 135 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum G-protein coupled receptor 135 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040308 name: level of probable G-protein coupled receptor 142 in blood serum def: "The amount of a probable G-protein coupled receptor 142 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum probable G-protein coupled receptor 142 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040309 name: level of urotensin-2 receptor in blood serum def: "The amount of a urotensin-2 receptor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum urotensin-2 receptor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040310 name: level of leucine-rich repeat-containing G-protein coupled receptor 4 in blood serum def: "The amount of a leucine-rich repeat-containing G-protein coupled receptor 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leucine-rich repeat-containing G-protein coupled receptor 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040311 name: level of leucine-rich repeat-containing G-protein coupled receptor 5 in blood serum def: "The amount of a leucine-rich repeat-containing G-protein coupled receptor 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leucine-rich repeat-containing G-protein coupled receptor 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040312 name: level of leukotriene B4 receptor 1 in blood serum def: "The amount of a leukotriene B4 receptor 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leukotriene B4 receptor 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040313 name: level of lutropin-choriogonadotropic hormone receptor in blood serum def: "The amount of a lutropin-choriogonadotropic hormone receptor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lutropin-choriogonadotropic hormone receptor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040314 name: level of hydroxycarboxylic acid receptor 2 in blood serum def: "The amount of a hydroxycarboxylic acid receptor 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum hydroxycarboxylic acid receptor 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040315 name: level of G-protein coupled receptor 26 in blood serum def: "The amount of a G-protein coupled receptor 26 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum G-protein coupled receptor 26 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040316 name: level of somatostatin receptor type 1 in blood serum def: "The amount of a somatostatin receptor type 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum somatostatin receptor type 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040317 name: level of sphingosylphosphorylcholine receptor in blood serum def: "The amount of a sphingosylphosphorylcholine receptor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sphingosylphosphorylcholine receptor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040318 name: level of thyrotropin receptor in blood serum def: "The amount of a thyrotropin receptor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum thyrotropin receptor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040319 name: level of inhibin alpha chain in blood serum def: "The amount of a inhibin alpha chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum inhibin alpha chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040320 name: level of TIR domain-containing adapter molecule 2 in blood serum def: "The amount of a TIR domain-containing adapter molecule 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum TIR domain-containing adapter molecule 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040321 name: level of Toll/interleukin-1 receptor domain-containing adapter protein in blood serum def: "The amount of a Toll/interleukin-1 receptor domain-containing adapter protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Toll/interleukin-1 receptor domain-containing adapter protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040322 name: level of NF-kappa-B essential modulator in blood serum def: "The amount of a NF-kappa-B essential modulator when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NF-kappa-B essential modulator amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040323 name: level of nuclear factor NF-kappa-B p105 subunit in blood serum def: "The amount of a nuclear factor NF-kappa-B p105 subunit when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nuclear factor NF-kappa-B p105 subunit amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040324 name: level of inhibitor of nuclear factor kappa-B kinase subunit beta in blood serum def: "The amount of a inhibitor of nuclear factor kappa-B kinase subunit beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum inhibitor of nuclear factor kappa-B kinase subunit beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040325 name: level of interleukin-1 receptor-associated kinase 4 in blood serum def: "The amount of a interleukin-1 receptor-associated kinase 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-1 receptor-associated kinase 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040326 name: level of prominin-1 in blood serum def: "The amount of a prominin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum prominin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040327 name: level of 5'-nucleotidase in blood serum def: "The amount of a 5'-nucleotidase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 5'-nucleotidase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040328 name: level of C-X-C motif chemokine 17 in blood serum def: "The amount of a C-X-C motif chemokine 17 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum C-X-C motif chemokine 17 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040329 name: level of C-type lectin domain family 6 member A in blood serum def: "The amount of a C-type lectin domain family 6 member A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum C-type lectin domain family 6 member A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040330 name: level of C-type lectin domain family 7 member A in blood serum def: "The amount of a C-type lectin domain family 7 member A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum C-type lectin domain family 7 member A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040331 name: level of MHC class II histocompatibility antigen gamma chain in blood serum def: "The amount of a MHC class II histocompatibility antigen gamma chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum MHC class II histocompatibility antigen gamma chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040332 name: level of PR domain zinc finger protein 1 in blood serum def: "The amount of a PR domain zinc finger protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PR domain zinc finger protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040333 name: level of SLAM family member 1 in blood serum def: "The amount of a SLAM family member 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SLAM family member 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040334 name: level of CD7 molecule in blood serum def: "The amount of a CD7 molecule when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CD7 molecule amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040335 name: level of T-cell surface protein tactile in blood serum def: "The amount of a T-cell surface protein tactile when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum T-cell surface protein tactile amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040336 name: level of T-cell-specific surface glycoprotein CD28 in blood serum def: "The amount of a T-cell-specific surface glycoprotein CD28 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum T-cell-specific surface glycoprotein CD28 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040337 name: level of Thy-1 membrane glycoprotein in blood serum def: "The amount of a Thy-1 membrane glycoprotein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Thy-1 membrane glycoprotein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040338 name: level of cathepsin K in blood serum def: "The amount of a cathepsin K when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cathepsin K amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040339 name: level of ecto-ADP-ribosyltransferase 4 in blood serum def: "The amount of a ecto-ADP-ribosyltransferase 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ecto-ADP-ribosyltransferase 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040340 name: level of immunoglobulin lambda-like polypeptide 1 in blood serum def: "The amount of a immunoglobulin lambda-like polypeptide 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum immunoglobulin lambda-like polypeptide 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040341 name: level of interleukin-5 receptor subunit alpha in blood serum def: "The amount of a interleukin-5 receptor subunit alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-5 receptor subunit alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040342 name: level of interleukin-6 receptor subunit beta in blood serum def: "The amount of a interleukin-6 receptor subunit beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-6 receptor subunit beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040343 name: level of junctional adhesion molecule A in blood serum def: "The amount of a junctional adhesion molecule A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum junctional adhesion molecule A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040344 name: level of kell blood group glycoprotein in blood serum def: "The amount of a kell blood group glycoprotein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum kell blood group glycoprotein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040345 name: level of leukocyte-associated immunoglobulin-like receptor 1 in blood serum def: "The amount of a leukocyte-associated immunoglobulin-like receptor 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leukocyte-associated immunoglobulin-like receptor 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040346 name: level of leukocyte-associated immunoglobulin-like receptor 2 in blood serum def: "The amount of a leukocyte-associated immunoglobulin-like receptor 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leukocyte-associated immunoglobulin-like receptor 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040347 name: level of leukosialin in blood serum def: "The amount of a leukosialin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leukosialin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040348 name: level of macrophage receptor MARCO in blood serum def: "The amount of a macrophage receptor MARCO when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum macrophage receptor MARCO amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040349 name: level of major prion protein in blood serum def: "The amount of a major prion protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum major prion protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040350 name: level of CD14 molecule in blood serum def: "The amount of a CD14 molecule when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CD14 molecule amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040351 name: level of neprilysin in blood serum def: "The amount of a neprilysin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neprilysin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040352 name: level of nuclear receptor ROR-gamma in blood serum def: "The amount of a nuclear receptor ROR-gamma when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nuclear receptor ROR-gamma amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040353 name: level of platelet glycoprotein Ib beta chain in blood serum def: "The amount of a platelet glycoprotein Ib beta chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum platelet glycoprotein Ib beta chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040354 name: level of platelet glycoprotein V in blood serum def: "The amount of a platelet glycoprotein V when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum platelet glycoprotein V amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040355 name: level of programmed cell death protein 1 in blood serum def: "The amount of a programmed cell death protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum programmed cell death protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040356 name: level of prostaglandin F2 receptor negative regulator in blood serum def: "The amount of a prostaglandin F2 receptor negative regulator when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum prostaglandin F2 receptor negative regulator amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040357 name: level of receptor-type tyrosine-protein phosphatase eta in blood serum def: "The amount of a receptor-type tyrosine-protein phosphatase eta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum receptor-type tyrosine-protein phosphatase eta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040358 name: level of sialic acid-binding Ig-like lectin 5 in blood serum def: "The amount of a sialic acid-binding Ig-like lectin 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sialic acid-binding Ig-like lectin 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040359 name: level of sialic acid-binding Ig-like lectin 8 in blood serum def: "The amount of a sialic acid-binding Ig-like lectin 8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sialic acid-binding Ig-like lectin 8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040360 name: level of transcription factor PU.1 in blood serum def: "The amount of a transcription factor PU.1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription factor PU.1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040361 name: level of tumor necrosis factor receptor superfamily member 1A in blood serum def: "The amount of a tumor necrosis factor receptor superfamily member 1A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tumor necrosis factor receptor superfamily member 1A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040362 name: level of tyrosine-protein phosphatase non-receptor type substrate 1 in blood serum def: "The amount of a tyrosine-protein phosphatase non-receptor type substrate 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tyrosine-protein phosphatase non-receptor type substrate 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040363 name: level of MHC class I histocompatibility antigen C alpha chain in blood serum def: "The amount of a MHC class I histocompatibility antigen C alpha chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum MHC class I histocompatibility antigen C alpha chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040364 name: level of MHC class II histocompatibility antigen alpha chain DQA2 in blood serum def: "The amount of a MHC class II histocompatibility antigen alpha chain DQA2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum MHC class II histocompatibility antigen alpha chain DQA2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040365 name: level of MHC class II histocompatibility antigen beta chain DRB3 in blood serum def: "The amount of a MHC class II histocompatibility antigen beta chain DRB3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum MHC class II histocompatibility antigen beta chain DRB3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040366 name: level of NKG2-A/NKG2-B type II integral membrane protein in blood serum def: "The amount of a NKG2-A/NKG2-B type II integral membrane protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NKG2-A/NKG2-B type II integral membrane protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040367 name: level of T-cell surface glycoprotein CD1a in blood serum def: "The amount of a T-cell surface glycoprotein CD1a when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum T-cell surface glycoprotein CD1a amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040368 name: level of antigen-presenting glycoprotein CD1d in blood serum def: "The amount of a antigen-presenting glycoprotein CD1d when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum antigen-presenting glycoprotein CD1d amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040369 name: level of complement component C1q receptor in blood serum def: "The amount of a complement component C1q receptor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum complement component C1q receptor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040370 name: level of glutamyl aminopeptidase in blood serum def: "The amount of a glutamyl aminopeptidase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutamyl aminopeptidase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040371 name: level of integrin beta-1 in blood serum def: "The amount of a integrin beta-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum integrin beta-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040372 name: level of integrin beta-2 in blood serum def: "The amount of a integrin beta-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum integrin beta-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040373 name: level of integrin beta-3 in blood serum def: "The amount of a integrin beta-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum integrin beta-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040374 name: level of interferon regulatory factor 2 in blood serum def: "The amount of a interferon regulatory factor 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interferon regulatory factor 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040375 name: level of interferon regulatory factor 3 in blood serum def: "The amount of a interferon regulatory factor 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interferon regulatory factor 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040376 name: level of interferon regulatory factor 4 in blood serum def: "The amount of a interferon regulatory factor 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interferon regulatory factor 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040377 name: level of interferon regulatory factor 5 in blood serum def: "The amount of a interferon regulatory factor 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interferon regulatory factor 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040378 name: level of interferon regulatory factor 6 in blood serum def: "The amount of a interferon regulatory factor 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interferon regulatory factor 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040379 name: level of interferon regulatory factor 8 in blood serum def: "The amount of a interferon regulatory factor 8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interferon regulatory factor 8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040380 name: level of interferon regulatory factor 9 in blood serum def: "The amount of a interferon regulatory factor 9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interferon regulatory factor 9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040381 name: level of low-density lipoprotein receptor-related protein 1 in blood serum def: "The amount of a low-density lipoprotein receptor-related protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum low-density lipoprotein receptor-related protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040382 name: level of lysosome-associated membrane glycoprotein 1 in blood serum def: "The amount of a lysosome-associated membrane glycoprotein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lysosome-associated membrane glycoprotein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040383 name: level of macrosialin in blood serum def: "The amount of a macrosialin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum macrosialin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040384 name: level of poliovirus receptor in blood serum def: "The amount of a poliovirus receptor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum poliovirus receptor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040385 name: level of nectin-2 in blood serum def: "The amount of a nectin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nectin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040386 name: level of nectin-3 in blood serum def: "The amount of a nectin-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nectin-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040387 name: level of semaphorin-4D in blood serum def: "The amount of a semaphorin-4D when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum semaphorin-4D amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040388 name: level of semaphorin-7A in blood serum def: "The amount of a semaphorin-7A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum semaphorin-7A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040389 name: level of signal-regulatory protein beta-1 in blood serum def: "The amount of a signal-regulatory protein beta-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum signal-regulatory protein beta-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040390 name: level of signal transducer and activator of transcription 5a in blood serum def: "The amount of a signal transducer and activator of transcription 5a when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum signal transducer and activator of transcription 5a amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040391 name: level of signal transducer and activator of transcription 5b in blood serum def: "The amount of a signal transducer and activator of transcription 5b when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum signal transducer and activator of transcription 5b amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040392 name: level of cytokine SCM-1 beta in blood serum def: "The amount of a cytokine SCM-1 beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cytokine SCM-1 beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040393 name: level of ecto-ADP-ribosyltransferase 5 in blood serum def: "The amount of a ecto-ADP-ribosyltransferase 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ecto-ADP-ribosyltransferase 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040394 name: level of ecto-ADP-ribosyltransferase 3 in blood serum def: "The amount of a ecto-ADP-ribosyltransferase 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ecto-ADP-ribosyltransferase 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040395 name: level of 26S proteasome non-ATPase regulatory subunit 11 in blood serum def: "The amount of a 26S proteasome non-ATPase regulatory subunit 11 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 26S proteasome non-ATPase regulatory subunit 11 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040396 name: level of 26S proteasome non-ATPase regulatory subunit 4 in blood serum def: "The amount of a 26S proteasome non-ATPase regulatory subunit 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 26S proteasome non-ATPase regulatory subunit 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040397 name: level of 26S proteasome non-ATPase regulatory subunit 6 in blood serum def: "The amount of a 26S proteasome non-ATPase regulatory subunit 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 26S proteasome non-ATPase regulatory subunit 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040398 name: level of DNA fragmentation factor subunit alpha in blood serum def: "The amount of a DNA fragmentation factor subunit alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA fragmentation factor subunit alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040399 name: level of FAS-associated death domain protein in blood serum def: "The amount of a FAS-associated death domain protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum FAS-associated death domain protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040400 name: level of RAC-alpha serine/threonine-protein kinase in blood serum def: "The amount of a RAC-alpha serine/threonine-protein kinase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RAC-alpha serine/threonine-protein kinase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040401 name: level of apoptotic protease-activating factor 1 in blood serum def: "The amount of a apoptotic protease-activating factor 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum apoptotic protease-activating factor 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040402 name: level of catenin beta-1 in blood serum def: "The amount of a catenin beta-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum catenin beta-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040403 name: level of occludin in blood serum def: "The amount of a occludin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum occludin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040404 name: level of proteasome subunit beta type-2 in blood serum def: "The amount of a proteasome subunit beta type-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum proteasome subunit beta type-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040405 name: level of proteasome subunit beta type-4 in blood serum def: "The amount of a proteasome subunit beta type-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum proteasome subunit beta type-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040406 name: level of TNF receptor-associated factor 4 in blood serum def: "The amount of a TNF receptor-associated factor 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum TNF receptor-associated factor 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040407 name: level of caspase-4 in blood serum def: "The amount of a caspase-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum caspase-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040408 name: level of caspase-5 in blood serum def: "The amount of a caspase-5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum caspase-5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040409 name: level of caspase-7 in blood serum def: "The amount of a caspase-7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum caspase-7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040410 name: level of serine/threonine-protein kinase 24 in blood serum def: "The amount of a serine/threonine-protein kinase 24 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine/threonine-protein kinase 24 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040411 name: level of radixin in blood serum def: "The amount of a radixin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum radixin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040412 name: level of prostate-specific antigen in blood serum def: "The amount of a prostate-specific antigen when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum prostate-specific antigen amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040413 name: level of cellular tumor antigen p53 in blood serum def: "The amount of a cellular tumor antigen p53 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cellular tumor antigen p53 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040414 name: level of vascular endothelial growth factor B in blood serum def: "The amount of a vascular endothelial growth factor B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum vascular endothelial growth factor B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040415 name: level of nuclear factor of activated T-cells, cytoplasmic 1 in blood serum def: "The amount of a nuclear factor of activated T-cells, cytoplasmic 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nuclear factor of activated T-cells, cytoplasmic 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040416 name: level of baculoviral IAP repeat-containing protein 7 in blood serum def: "The amount of a baculoviral IAP repeat-containing protein 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum baculoviral IAP repeat-containing protein 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040417 name: level of E3 ubiquitin-protein ligase pellino homolog 1 in blood serum def: "The amount of a E3 ubiquitin-protein ligase pellino homolog 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 ubiquitin-protein ligase pellino homolog 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040418 name: level of TRAF family member-associated NF-kappa-B activator in blood serum def: "The amount of a TRAF family member-associated NF-kappa-B activator when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum TRAF family member-associated NF-kappa-B activator amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040419 name: level of ubiquitin-conjugating enzyme E2 D3 in blood serum def: "The amount of a ubiquitin-conjugating enzyme E2 D3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin-conjugating enzyme E2 D3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040420 name: level of ubiquitin-conjugating enzyme E2 D1 in blood serum def: "The amount of a ubiquitin-conjugating enzyme E2 D1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin-conjugating enzyme E2 D1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040421 name: level of NEDD4-like E3 ubiquitin-protein ligase WWP1 in blood serum def: "The amount of a NEDD4-like E3 ubiquitin-protein ligase WWP1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NEDD4-like E3 ubiquitin-protein ligase WWP1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040422 name: level of SHC-transforming protein 4 in blood serum def: "The amount of a SHC-transforming protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SHC-transforming protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040423 name: level of SHC-transforming protein 2 in blood serum def: "The amount of a SHC-transforming protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SHC-transforming protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040424 name: level of E3 ubiquitin-protein ligase Itchy in blood serum def: "The amount of a E3 ubiquitin-protein ligase Itchy when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 ubiquitin-protein ligase Itchy amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040425 name: level of myosin light chain 3 in blood serum def: "The amount of a myosin light chain 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum myosin light chain 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040426 name: level of RAF proto-oncogene serine/threonine-protein kinase in blood serum def: "The amount of a RAF proto-oncogene serine/threonine-protein kinase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RAF proto-oncogene serine/threonine-protein kinase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040427 name: level of collagen type II alpha chain in blood serum def: "The amount of a collagen type II alpha chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum collagen type II alpha chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040428 name: level of dual specificity mitogen-activated protein kinase kinase 6 in blood serum def: "The amount of a dual specificity mitogen-activated protein kinase kinase 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dual specificity mitogen-activated protein kinase kinase 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040429 name: level of TRAF-interacting protein with FHA domain-containing protein A in blood serum def: "The amount of a TRAF-interacting protein with FHA domain-containing protein A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum TRAF-interacting protein with FHA domain-containing protein A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040430 name: level of ubiquitin-conjugating enzyme E2 N in blood serum def: "The amount of a ubiquitin-conjugating enzyme E2 N when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin-conjugating enzyme E2 N amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040431 name: level of ubiquitin-conjugating enzyme E2 variant 1 in blood serum def: "The amount of a ubiquitin-conjugating enzyme E2 variant 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin-conjugating enzyme E2 variant 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040432 name: level of NF-kappa-B inhibitor alpha in blood serum def: "The amount of a NF-kappa-B inhibitor alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NF-kappa-B inhibitor alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040433 name: level of NF-kappa-B inhibitor beta in blood serum def: "The amount of a NF-kappa-B inhibitor beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NF-kappa-B inhibitor beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040434 name: level of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase 1 in blood serum def: "The amount of a phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040435 name: level of suppressor of fused homolog in blood serum def: "The amount of a suppressor of fused homolog when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum suppressor of fused homolog amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040436 name: level of collagen alpha-1(III) chain in blood serum def: "The amount of a collagen alpha-1(III) chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum collagen alpha-1(III) chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040437 name: level of collagen alpha-1(V) chain in blood serum def: "The amount of a collagen alpha-1(V) chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum collagen alpha-1(V) chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040438 name: level of collagen alpha-1(VI) chain in blood serum def: "The amount of a collagen alpha-1(VI) chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum collagen alpha-1(VI) chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040439 name: level of collagen alpha-2(VI) chain in blood serum def: "The amount of a collagen alpha-2(VI) chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum collagen alpha-2(VI) chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040440 name: level of fragile X messenger ribonucleoprotein 1 in blood serum def: "The amount of a fragile X messenger ribonucleoprotein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum fragile X messenger ribonucleoprotein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040441 name: level of RNA-binding protein FXR1 in blood serum def: "The amount of a RNA-binding protein FXR1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RNA-binding protein FXR1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040442 name: level of heat shock protein 105 kDa in blood serum def: "The amount of a heat shock protein 105 kDa when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum heat shock protein 105 kDa amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040443 name: level of PC4 and SFRS1-interacting protein in blood serum def: "The amount of a PC4 and SFRS1-interacting protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PC4 and SFRS1-interacting protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040444 name: level of thyroid hormone receptor alpha in blood serum def: "The amount of a thyroid hormone receptor alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum thyroid hormone receptor alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040445 name: level of E3 SUMO-protein ligase PIAS3 in blood serum def: "The amount of a E3 SUMO-protein ligase PIAS3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 SUMO-protein ligase PIAS3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040446 name: level of V(D)J recombination-activating protein 1 in blood serum def: "The amount of a V(D)J recombination-activating protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum V(D)J recombination-activating protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040447 name: level of granzyme K in blood serum def: "The amount of a granzyme K when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum granzyme K amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040448 name: level of alpha-1B-glycoprotein in blood serum def: "The amount of a alpha-1B-glycoprotein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-1B-glycoprotein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040449 name: level of APOBEC1 complementation factor in blood serum def: "The amount of a APOBEC1 complementation factor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum APOBEC1 complementation factor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040450 name: level of alpha-2-macroglobulin-like protein 1 in blood serum def: "The amount of a alpha-2-macroglobulin-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-2-macroglobulin-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040451 name: level of lactosylceramide 4-alpha-galactosyltransferase in blood serum def: "The amount of a lactosylceramide 4-alpha-galactosyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lactosylceramide 4-alpha-galactosyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040452 name: level of alpha-1,4-N-acetylglucosaminyltransferase in blood serum def: "The amount of a alpha-1,4-N-acetylglucosaminyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-1,4-N-acetylglucosaminyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040453 name: level of acetoacetyl-CoA synthetase in blood serum def: "The amount of a acetoacetyl-CoA synthetase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum acetoacetyl-CoA synthetase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040454 name: level of kynurenine/alpha-aminoadipate aminotransferase, mitochondrial in blood serum def: "The amount of a kynurenine/alpha-aminoadipate aminotransferase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum kynurenine/alpha-aminoadipate aminotransferase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040455 name: level of alanine--tRNA ligase, cytoplasmic in blood serum def: "The amount of a alanine--tRNA ligase, cytoplasmic when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alanine--tRNA ligase, cytoplasmic amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040456 name: level of L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase in blood serum def: "The amount of a L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040457 name: level of ATP-binding cassette sub-family C member 6 in blood serum def: "The amount of a ATP-binding cassette sub-family C member 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ATP-binding cassette sub-family C member 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040458 name: level of protein ABHD14A in blood serum def: "The amount of a protein ABHD14A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein ABHD14A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040459 name: level of putative protein-lysine deacylase ABHD14B in blood serum def: "The amount of a putative protein-lysine deacylase ABHD14B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum putative protein-lysine deacylase ABHD14B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040460 name: level of (lyso)-N-acylphosphatidylethanolamine lipase in blood serum def: "The amount of a (lyso)-N-acylphosphatidylethanolamine lipase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum (lyso)-N-acylphosphatidylethanolamine lipase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040461 name: level of ABI gene family member 3 in blood serum def: "The amount of a ABI gene family member 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ABI gene family member 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040462 name: level of actin-binding LIM protein 3 in blood serum def: "The amount of a actin-binding LIM protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum actin-binding LIM protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040463 name: level of histo-blood group ABO system transferase in blood serum def: "The amount of a histo-blood group ABO system transferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum histo-blood group ABO system transferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040464 name: level of amiloride-sensitive amine oxidase [copper-containing] in blood serum def: "The amount of a amiloride-sensitive amine oxidase [copper-containing] when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum amiloride-sensitive amine oxidase [copper-containing] amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040465 name: level of active breakpoint cluster region-related protein in blood serum def: "The amount of a active breakpoint cluster region-related protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum active breakpoint cluster region-related protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040466 name: level of 3-ketoacyl-CoA thiolase, peroxisomal in blood serum def: "The amount of a 3-ketoacyl-CoA thiolase, peroxisomal when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 3-ketoacyl-CoA thiolase, peroxisomal amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040467 name: level of isobutyryl-CoA dehydrogenase, mitochondrial in blood serum def: "The amount of a isobutyryl-CoA dehydrogenase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum isobutyryl-CoA dehydrogenase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040468 name: level of long-chain specific acyl-CoA dehydrogenase, mitochondrial in blood serum def: "The amount of a long-chain specific acyl-CoA dehydrogenase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum long-chain specific acyl-CoA dehydrogenase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040469 name: level of medium-chain specific acyl-CoA dehydrogenase, mitochondrial in blood serum def: "The amount of a medium-chain specific acyl-CoA dehydrogenase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum medium-chain specific acyl-CoA dehydrogenase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040470 name: level of short-chain specific acyl-CoA dehydrogenase, mitochondrial in blood serum def: "The amount of a short-chain specific acyl-CoA dehydrogenase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum short-chain specific acyl-CoA dehydrogenase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040471 name: level of short/branched chain specific acyl-CoA dehydrogenase, mitochondrial in blood serum def: "The amount of a short/branched chain specific acyl-CoA dehydrogenase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum short/branched chain specific acyl-CoA dehydrogenase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040472 name: level of very long-chain specific acyl-CoA dehydrogenase, mitochondrial in blood serum def: "The amount of a very long-chain specific acyl-CoA dehydrogenase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum very long-chain specific acyl-CoA dehydrogenase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040473 name: level of Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 in blood serum def: "The amount of a Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040474 name: level of acetyl-CoA acetyltransferase, cytosolic in blood serum def: "The amount of a acetyl-CoA acetyltransferase, cytosolic when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum acetyl-CoA acetyltransferase, cytosolic amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040475 name: level of acyl-CoA-binding domain-containing protein 6 in blood serum def: "The amount of a acyl-CoA-binding domain-containing protein 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum acyl-CoA-binding domain-containing protein 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040476 name: level of acid-sensing ion channel 4 in blood serum def: "The amount of a acid-sensing ion channel 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum acid-sensing ion channel 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040477 name: level of acetylcholinesterase in blood serum def: "The amount of a acetylcholinesterase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum acetylcholinesterase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040478 name: level of ATP-citrate synthase in blood serum def: "The amount of a ATP-citrate synthase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ATP-citrate synthase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040479 name: level of cytoplasmic aconitate hydratase in blood serum def: "The amount of a cytoplasmic aconitate hydratase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cytoplasmic aconitate hydratase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040480 name: level of acetyl-coenzyme A thioesterase in blood serum def: "The amount of a acetyl-coenzyme A thioesterase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum acetyl-coenzyme A thioesterase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040481 name: level of acyl-coenzyme A thioesterase 8 in blood serum def: "The amount of a acyl-coenzyme A thioesterase 8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum acyl-coenzyme A thioesterase 8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040482 name: level of peroxisomal acyl-coenzyme A oxidase 1 in blood serum def: "The amount of a peroxisomal acyl-coenzyme A oxidase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum peroxisomal acyl-coenzyme A oxidase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040483 name: level of lysophosphatidic acid phosphatase type 6 in blood serum def: "The amount of a lysophosphatidic acid phosphatase type 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lysophosphatidic acid phosphatase type 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040484 name: level of 2-phosphoxylose phosphatase 1 in blood serum def: "The amount of a 2-phosphoxylose phosphatase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 2-phosphoxylose phosphatase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040485 name: level of prostatic acid phosphatase in blood serum def: "The amount of a prostatic acid phosphatase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum prostatic acid phosphatase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040486 name: level of acrosomal protein SP-10 in blood serum def: "The amount of a acrosomal protein SP-10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum acrosomal protein SP-10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040487 name: level of medium-chain acyl-CoA ligase ACSF2, mitochondrial in blood serum def: "The amount of a medium-chain acyl-CoA ligase ACSF2, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum medium-chain acyl-CoA ligase ACSF2, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040488 name: level of acetyl-coenzyme A synthetase, cytoplasmic in blood serum def: "The amount of a acetyl-coenzyme A synthetase, cytoplasmic when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum acetyl-coenzyme A synthetase, cytoplasmic amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040489 name: level of alpha-actinin-1 in blood serum def: "The amount of a alpha-actinin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-actinin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040490 name: level of alpha-actinin-2 in blood serum def: "The amount of a alpha-actinin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-actinin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040491 name: level of alpha-actinin-4 in blood serum def: "The amount of a alpha-actinin-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-actinin-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040492 name: level of N-acyl-aromatic-L-amino acid amidohydrolase, carboxylate-forming in blood serum def: "The amount of a N-acyl-aromatic-L-amino acid amidohydrolase, carboxylate-forming when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum N-acyl-aromatic-L-amino acid amidohydrolase, carboxylate-forming amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040493 name: level of acylphosphatase-1 in blood serum def: "The amount of a acylphosphatase-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum acylphosphatase-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040494 name: level of acylphosphatase-2 in blood serum def: "The amount of a acylphosphatase-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum acylphosphatase-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040495 name: level of disintegrin and metalloproteinase domain-containing protein 11 in blood serum def: "The amount of a disintegrin and metalloproteinase domain-containing protein 11 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum disintegrin and metalloproteinase domain-containing protein 11 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040496 name: level of disintegrin and metalloproteinase domain-containing protein 19 in blood serum def: "The amount of a disintegrin and metalloproteinase domain-containing protein 19 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum disintegrin and metalloproteinase domain-containing protein 19 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040497 name: level of disintegrin and metalloproteinase domain-containing protein 22 in blood serum def: "The amount of a disintegrin and metalloproteinase domain-containing protein 22 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum disintegrin and metalloproteinase domain-containing protein 22 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040498 name: level of disintegrin and metalloproteinase domain-containing protein 23 in blood serum def: "The amount of a disintegrin and metalloproteinase domain-containing protein 23 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum disintegrin and metalloproteinase domain-containing protein 23 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040499 name: level of disintegrin and metalloproteinase domain-containing protein 28 in blood serum def: "The amount of a disintegrin and metalloproteinase domain-containing protein 28 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum disintegrin and metalloproteinase domain-containing protein 28 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040500 name: level of disintegrin and metalloproteinase domain-containing protein 29 in blood serum def: "The amount of a disintegrin and metalloproteinase domain-containing protein 29 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum disintegrin and metalloproteinase domain-containing protein 29 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040501 name: level of disintegrin and metalloproteinase domain-containing protein 30 in blood serum def: "The amount of a disintegrin and metalloproteinase domain-containing protein 30 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum disintegrin and metalloproteinase domain-containing protein 30 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040502 name: level of disintegrin and metalloproteinase domain-containing protein 32 in blood serum def: "The amount of a disintegrin and metalloproteinase domain-containing protein 32 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum disintegrin and metalloproteinase domain-containing protein 32 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040503 name: level of disintegrin and metalloproteinase domain-containing protein 7 in blood serum def: "The amount of a disintegrin and metalloproteinase domain-containing protein 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum disintegrin and metalloproteinase domain-containing protein 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040504 name: level of ADAM DEC1 in blood serum def: "The amount of a ADAM DEC1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ADAM DEC1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040505 name: level of a disintegrin and metalloproteinase with thrombospondin motifs 3 in blood serum def: "The amount of a a disintegrin and metalloproteinase with thrombospondin motifs 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum a disintegrin and metalloproteinase with thrombospondin motifs 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040506 name: level of ADAMTS-like protein 1 in blood serum def: "The amount of a ADAMTS-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ADAMTS-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040507 name: level of ADAMTS-like protein 2 in blood serum def: "The amount of a ADAMTS-like protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ADAMTS-like protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040508 name: level of tRNA-specific adenosine deaminase 1 in blood serum def: "The amount of a tRNA-specific adenosine deaminase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tRNA-specific adenosine deaminase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040509 name: level of tRNA-specific adenosine deaminase 2 in blood serum def: "The amount of a tRNA-specific adenosine deaminase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tRNA-specific adenosine deaminase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040510 name: level of pituitary adenylate cyclase-activating polypeptide in blood serum def: "The amount of a pituitary adenylate cyclase-activating polypeptide when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pituitary adenylate cyclase-activating polypeptide amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040511 name: level of pituitary adenylate cyclase-activating polypeptide type I receptor in blood serum def: "The amount of a pituitary adenylate cyclase-activating polypeptide type I receptor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pituitary adenylate cyclase-activating polypeptide type I receptor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040512 name: level of beta-adducin in blood serum def: "The amount of a beta-adducin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-adducin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040513 name: level of alcohol dehydrogenase 1A in blood serum def: "The amount of a alcohol dehydrogenase 1A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alcohol dehydrogenase 1A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040514 name: level of all-trans-retinol dehydrogenase [NAD(+)] ADH1B in blood serum def: "The amount of a all-trans-retinol dehydrogenase [NAD(+)] ADH1B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum all-trans-retinol dehydrogenase [NAD(+)] ADH1B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040515 name: level of alcohol dehydrogenase 1C in blood serum def: "The amount of a alcohol dehydrogenase 1C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alcohol dehydrogenase 1C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040516 name: level of all-trans-retinol dehydrogenase [NAD(+)] ADH4 in blood serum def: "The amount of a all-trans-retinol dehydrogenase [NAD(+)] ADH4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum all-trans-retinol dehydrogenase [NAD(+)] ADH4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040517 name: level of alcohol dehydrogenase class-3 in blood serum def: "The amount of a alcohol dehydrogenase class-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alcohol dehydrogenase class-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040518 name: level of alcohol dehydrogenase 6 in blood serum def: "The amount of a alcohol dehydrogenase 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alcohol dehydrogenase 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040519 name: level of all-trans-retinol dehydrogenase [NAD(+)] ADH7 in blood serum def: "The amount of a all-trans-retinol dehydrogenase [NAD(+)] ADH7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum all-trans-retinol dehydrogenase [NAD(+)] ADH7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040520 name: level of acireductone dioxygenase in blood serum def: "The amount of a acireductone dioxygenase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum acireductone dioxygenase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040521 name: level of adenosine kinase in blood serum def: "The amount of a adenosine kinase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum adenosine kinase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040522 name: level of protein ADM2 in blood serum def: "The amount of a protein ADM2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein ADM2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040523 name: level of ADP-dependent glucokinase in blood serum def: "The amount of a ADP-dependent glucokinase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ADP-dependent glucokinase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040524 name: level of ADP-ribosylhydrolase ARH1 in blood serum def: "The amount of a ADP-ribosylhydrolase ARH1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ADP-ribosylhydrolase ARH1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040525 name: level of ADP-ribosylhydrolase ARH3 in blood serum def: "The amount of a ADP-ribosylhydrolase ARH3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ADP-ribosylhydrolase ARH3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040526 name: level of proteasomal ubiquitin receptor ADRM1 in blood serum def: "The amount of a proteasomal ubiquitin receptor ADRM1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum proteasomal ubiquitin receptor ADRM1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040527 name: level of adenylosuccinate synthetase isozyme 1 in blood serum def: "The amount of a adenylosuccinate synthetase isozyme 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum adenylosuccinate synthetase isozyme 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040528 name: level of TLE family member 5 in blood serum def: "The amount of a TLE family member 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum TLE family member 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040529 name: level of equatorin in blood serum def: "The amount of a equatorin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum equatorin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040530 name: level of actin filament-associated protein 1-like 1 in blood serum def: "The amount of a actin filament-associated protein 1-like 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum actin filament-associated protein 1-like 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040531 name: level of actin filament-associated protein 1-like 2 in blood serum def: "The amount of a actin filament-associated protein 1-like 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum actin filament-associated protein 1-like 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040532 name: level of N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase in blood serum def: "The amount of a N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040533 name: level of Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2 in blood serum def: "The amount of a Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040534 name: level of Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3 in blood serum def: "The amount of a Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040535 name: level of Arf-GAP domain and FG repeat-containing protein 1 in blood serum def: "The amount of a Arf-GAP domain and FG repeat-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Arf-GAP domain and FG repeat-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040536 name: level of angiogenic factor with G patch and FHA domains 1 in blood serum def: "The amount of a angiogenic factor with G patch and FHA domains 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum angiogenic factor with G patch and FHA domains 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040537 name: level of anterior gradient protein 3 in blood serum def: "The amount of a anterior gradient protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum anterior gradient protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040538 name: level of agrin in blood serum def: "The amount of a agrin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum agrin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040539 name: level of activator of 90 kDa heat shock protein ATPase homolog 1 in blood serum def: "The amount of a activator of 90 kDa heat shock protein ATPase homolog 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum activator of 90 kDa heat shock protein ATPase homolog 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040540 name: level of Axin interactor, dorsalization-associated protein in blood serum def: "The amount of a Axin interactor, dorsalization-associated protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Axin interactor, dorsalization-associated protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040541 name: level of allograft inflammatory factor 1-like in blood serum def: "The amount of a allograft inflammatory factor 1-like when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum allograft inflammatory factor 1-like amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040542 name: level of apoptosis-inducing factor 1, mitochondrial in blood serum def: "The amount of a apoptosis-inducing factor 1, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum apoptosis-inducing factor 1, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040543 name: level of interferon-inducible protein AIM2 in blood serum def: "The amount of a interferon-inducible protein AIM2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interferon-inducible protein AIM2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040544 name: level of aryl-hydrocarbon-interacting protein-like 1 in blood serum def: "The amount of a aryl-hydrocarbon-interacting protein-like 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum aryl-hydrocarbon-interacting protein-like 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040545 name: level of akirin-2 in blood serum def: "The amount of a akirin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum akirin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040546 name: level of aldo-keto reductase family 1 member A1 in blood serum def: "The amount of a aldo-keto reductase family 1 member A1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum aldo-keto reductase family 1 member A1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040547 name: level of aldo-keto reductase family 1 member B1 in blood serum def: "The amount of a aldo-keto reductase family 1 member B1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum aldo-keto reductase family 1 member B1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040548 name: level of aldo-keto reductase family 1 member B10 in blood serum def: "The amount of a aldo-keto reductase family 1 member B10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum aldo-keto reductase family 1 member B10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040549 name: level of aldo-keto reductase family 1 member C1 in blood serum def: "The amount of a aldo-keto reductase family 1 member C1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum aldo-keto reductase family 1 member C1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040550 name: level of aldo-keto reductase family 1 member C2 in blood serum def: "The amount of a aldo-keto reductase family 1 member C2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum aldo-keto reductase family 1 member C2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040551 name: level of aldo-keto reductase family 1 member C3 in blood serum def: "The amount of a aldo-keto reductase family 1 member C3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum aldo-keto reductase family 1 member C3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040552 name: level of aldo-keto reductase family 1 member C4 in blood serum def: "The amount of a aldo-keto reductase family 1 member C4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum aldo-keto reductase family 1 member C4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040553 name: level of aldo-keto reductase family 1 member D1 in blood serum def: "The amount of a aldo-keto reductase family 1 member D1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum aldo-keto reductase family 1 member D1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040554 name: level of aflatoxin B1 aldehyde reductase member 3 in blood serum def: "The amount of a aflatoxin B1 aldehyde reductase member 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum aflatoxin B1 aldehyde reductase member 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040555 name: level of proline-rich AKT1 substrate 1 in blood serum def: "The amount of a proline-rich AKT1 substrate 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum proline-rich AKT1 substrate 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040556 name: level of RAC-gamma serine/threonine-protein kinase in blood serum def: "The amount of a RAC-gamma serine/threonine-protein kinase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RAC-gamma serine/threonine-protein kinase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040557 name: level of delta-aminolevulinic acid dehydratase in blood serum def: "The amount of a delta-aminolevulinic acid dehydratase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum delta-aminolevulinic acid dehydratase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040558 name: level of aldehyde dehydrogenase 1A1 in blood serum def: "The amount of a aldehyde dehydrogenase 1A1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum aldehyde dehydrogenase 1A1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040559 name: level of retinal dehydrogenase 2 in blood serum def: "The amount of a retinal dehydrogenase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum retinal dehydrogenase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040560 name: level of aldehyde dehydrogenase family 1 member A3 in blood serum def: "The amount of a aldehyde dehydrogenase family 1 member A3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum aldehyde dehydrogenase family 1 member A3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040561 name: level of aldehyde dehydrogenase X, mitochondrial in blood serum def: "The amount of a aldehyde dehydrogenase X, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum aldehyde dehydrogenase X, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040562 name: level of aldehyde dehydrogenase, mitochondrial in blood serum def: "The amount of a aldehyde dehydrogenase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum aldehyde dehydrogenase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040563 name: level of aldehyde dehydrogenase, dimeric NADP-preferring in blood serum def: "The amount of a aldehyde dehydrogenase, dimeric NADP-preferring when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum aldehyde dehydrogenase, dimeric NADP-preferring amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040564 name: level of succinate-semialdehyde dehydrogenase, mitochondrial in blood serum def: "The amount of a succinate-semialdehyde dehydrogenase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum succinate-semialdehyde dehydrogenase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040565 name: level of methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial in blood serum def: "The amount of a methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040566 name: level of alpha-aminoadipic semialdehyde dehydrogenase in blood serum def: "The amount of a alpha-aminoadipic semialdehyde dehydrogenase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-aminoadipic semialdehyde dehydrogenase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040567 name: level of fructose-bisphosphate aldolase B in blood serum def: "The amount of a fructose-bisphosphate aldolase B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum fructose-bisphosphate aldolase B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040568 name: level of fructose-bisphosphate aldolase C in blood serum def: "The amount of a fructose-bisphosphate aldolase C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum fructose-bisphosphate aldolase C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040569 name: level of alpha-1,3/1,6-mannosyltransferase ALG2 in blood serum def: "The amount of a alpha-1,3/1,6-mannosyltransferase ALG2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-1,3/1,6-mannosyltransferase ALG2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040570 name: level of DNA oxidative demethylase ALKBH2 in blood serum def: "The amount of a DNA oxidative demethylase ALKBH2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA oxidative demethylase ALKBH2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040571 name: level of alpha-ketoglutarate-dependent dioxygenase alkB homolog 3 in blood serum def: "The amount of a alpha-ketoglutarate-dependent dioxygenase alkB homolog 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-ketoglutarate-dependent dioxygenase alkB homolog 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040572 name: level of polyunsaturated fatty acid lipoxygenase ALOX15B in blood serum def: "The amount of a polyunsaturated fatty acid lipoxygenase ALOX15B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum polyunsaturated fatty acid lipoxygenase ALOX15B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040573 name: level of polyunsaturated fatty acid 5-lipoxygenase in blood serum def: "The amount of a polyunsaturated fatty acid 5-lipoxygenase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum polyunsaturated fatty acid 5-lipoxygenase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040574 name: level of intestinal alkaline phosphatase in blood serum def: "The amount of a intestinal alkaline phosphatase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum intestinal alkaline phosphatase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040575 name: level of alkaline phosphatase, tissue-nonspecific isozyme in blood serum def: "The amount of a alkaline phosphatase, tissue-nonspecific isozyme when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alkaline phosphatase, tissue-nonspecific isozyme amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040576 name: level of alkaline phosphatase, placental type in blood serum def: "The amount of a alkaline phosphatase, placental type when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alkaline phosphatase, placental type amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040577 name: level of alkaline phosphatase, germ cell type in blood serum def: "The amount of a alkaline phosphatase, germ cell type when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alkaline phosphatase, germ cell type amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040578 name: level of transmembrane protein 237 in blood serum def: "The amount of a transmembrane protein 237 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transmembrane protein 237 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040579 name: level of protein AMBP in blood serum def: "The amount of a protein AMBP when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein AMBP amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040580 name: level of AMMECR1-like protein in blood serum def: "The amount of a AMMECR1-like protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum AMMECR1-like protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040581 name: level of angiomotin in blood serum def: "The amount of a angiomotin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum angiomotin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040582 name: level of AMP deaminase 2 in blood serum def: "The amount of a AMP deaminase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum AMP deaminase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040583 name: level of amphiphysin in blood serum def: "The amount of a amphiphysin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum amphiphysin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040584 name: level of aminomethyltransferase, mitochondrial in blood serum def: "The amount of a aminomethyltransferase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum aminomethyltransferase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040585 name: level of alpha-amylase 2A in blood serum def: "The amount of a alpha-amylase 2A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-amylase 2A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040586 name: level of alpha-amylase 2B in blood serum def: "The amount of a alpha-amylase 2B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-amylase 2B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040587 name: level of anaphase-promoting complex subunit 10 in blood serum def: "The amount of a anaphase-promoting complex subunit 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum anaphase-promoting complex subunit 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040588 name: level of anaphase-promoting complex subunit 7 in blood serum def: "The amount of a anaphase-promoting complex subunit 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum anaphase-promoting complex subunit 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040589 name: level of angiopoietin-related protein 7 in blood serum def: "The amount of a angiopoietin-related protein 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum angiopoietin-related protein 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040590 name: level of ankyrin repeat family A protein 2 in blood serum def: "The amount of a ankyrin repeat family A protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ankyrin repeat family A protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040591 name: level of ankyrin repeat domain-containing protein 1 in blood serum def: "The amount of a ankyrin repeat domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ankyrin repeat domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040592 name: level of ankyrin repeat domain-containing protein 2 in blood serum def: "The amount of a ankyrin repeat domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ankyrin repeat domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040593 name: level of ankyrin repeat domain-containing protein 27 in blood serum def: "The amount of a ankyrin repeat domain-containing protein 27 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ankyrin repeat domain-containing protein 27 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040594 name: level of acidic leucine-rich nuclear phosphoprotein 32 family member A in blood serum def: "The amount of a acidic leucine-rich nuclear phosphoprotein 32 family member A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum acidic leucine-rich nuclear phosphoprotein 32 family member A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040595 name: level of anthrax toxin receptor 1 in blood serum def: "The amount of a anthrax toxin receptor 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum anthrax toxin receptor 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040596 name: level of anthrax toxin receptor 2 in blood serum def: "The amount of a anthrax toxin receptor 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum anthrax toxin receptor 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040597 name: level of annexin A10 in blood serum def: "The amount of a annexin A10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum annexin A10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040598 name: level of annexin A11 in blood serum def: "The amount of a annexin A11 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum annexin A11 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040599 name: level of annexin A13 in blood serum def: "The amount of a annexin A13 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum annexin A13 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040600 name: level of annexin A3 in blood serum def: "The amount of a annexin A3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum annexin A3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040601 name: level of annexin A4 in blood serum def: "The amount of a annexin A4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum annexin A4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040602 name: level of annexin A7 in blood serum def: "The amount of a annexin A7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum annexin A7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040603 name: level of annexin A8 in blood serum def: "The amount of a annexin A8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum annexin A8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040604 name: level of annexin A9 in blood serum def: "The amount of a annexin A9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum annexin A9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040605 name: level of retina-specific copper amine oxidase in blood serum def: "The amount of a retina-specific copper amine oxidase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum retina-specific copper amine oxidase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040606 name: level of membrane primary amine oxidase in blood serum def: "The amount of a membrane primary amine oxidase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum membrane primary amine oxidase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040607 name: level of lysine-specific histone demethylase 1A in blood serum def: "The amount of a lysine-specific histone demethylase 1A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lysine-specific histone demethylase 1A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040608 name: level of AP-1 complex subunit beta-1 in blood serum def: "The amount of a AP-1 complex subunit beta-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum AP-1 complex subunit beta-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040609 name: level of AP-1 complex subunit gamma-like 2 in blood serum def: "The amount of a AP-1 complex subunit gamma-like 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum AP-1 complex subunit gamma-like 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040610 name: level of AP-1 complex subunit sigma-2 in blood serum def: "The amount of a AP-1 complex subunit sigma-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum AP-1 complex subunit sigma-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040611 name: level of AP-2 complex subunit alpha-2 in blood serum def: "The amount of a AP-2 complex subunit alpha-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum AP-2 complex subunit alpha-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040612 name: level of AP-2 complex subunit beta in blood serum def: "The amount of a AP-2 complex subunit beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum AP-2 complex subunit beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040613 name: level of AP-4 complex subunit mu-1 in blood serum def: "The amount of a AP-4 complex subunit mu-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum AP-4 complex subunit mu-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040614 name: level of amyloid beta A4 precursor protein-binding family B member 1-interacting protein in blood serum def: "The amount of a amyloid beta A4 precursor protein-binding family B member 1-interacting protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum amyloid beta A4 precursor protein-binding family B member 1-interacting protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040615 name: level of protein APCDD1 in blood serum def: "The amount of a protein APCDD1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein APCDD1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040616 name: level of apelin in blood serum def: "The amount of a apelin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum apelin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040617 name: level of amyloid beta precursor like protein 1 in blood serum def: "The amount of a amyloid beta precursor like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum amyloid beta precursor like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040618 name: level of amyloid beta precursor like protein 2 in blood serum def: "The amount of a amyloid beta precursor like protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum amyloid beta precursor like protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040619 name: level of adipocyte plasma membrane-associated protein in blood serum def: "The amount of a adipocyte plasma membrane-associated protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum adipocyte plasma membrane-associated protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040620 name: level of apolipoprotein A-I in blood serum def: "The amount of a apolipoprotein A-I when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum apolipoprotein A-I amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040621 name: level of apolipoprotein A-I-binding protein in blood serum def: "The amount of a apolipoprotein A-I-binding protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum apolipoprotein A-I-binding protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040622 name: level of apolipoprotein A-II in blood serum def: "The amount of a apolipoprotein A-II when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum apolipoprotein A-II amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040623 name: level of apolipoprotein A-V in blood serum def: "The amount of a apolipoprotein A-V when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum apolipoprotein A-V amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040624 name: level of apolipoprotein C-I in blood serum def: "The amount of a apolipoprotein C-I when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum apolipoprotein C-I amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040625 name: level of apolipoprotein C-II in blood serum def: "The amount of a apolipoprotein C-II when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum apolipoprotein C-II amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040626 name: level of apolipoprotein C-III in blood serum def: "The amount of a apolipoprotein C-III when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum apolipoprotein C-III amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040627 name: level of apolipoprotein E in blood serum def: "The amount of a apolipoprotein E when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum apolipoprotein E amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040628 name: level of apolipoprotein F in blood serum def: "The amount of a apolipoprotein F when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum apolipoprotein F amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040629 name: level of beta-2-glycoprotein 1 in blood serum def: "The amount of a beta-2-glycoprotein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-2-glycoprotein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040630 name: level of apolipoprotein L2 in blood serum def: "The amount of a apolipoprotein L2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum apolipoprotein L2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040631 name: level of apolipoprotein L3 in blood serum def: "The amount of a apolipoprotein L3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum apolipoprotein L3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040632 name: level of DCC-interacting protein 13-alpha in blood serum def: "The amount of a DCC-interacting protein 13-alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DCC-interacting protein 13-alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040633 name: level of adenine phosphoribosyltransferase in blood serum def: "The amount of a adenine phosphoribosyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum adenine phosphoribosyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040634 name: level of aprataxin in blood serum def: "The amount of a aprataxin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum aprataxin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040635 name: level of aquaporin-4 in blood serum def: "The amount of a aquaporin-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum aquaporin-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040636 name: level of serine/threonine-protein kinase A-Raf in blood serum def: "The amount of a serine/threonine-protein kinase A-Raf when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine/threonine-protein kinase A-Raf amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040637 name: level of activity-regulated cytoskeleton-associated protein in blood serum def: "The amount of a activity-regulated cytoskeleton-associated protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum activity-regulated cytoskeleton-associated protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040638 name: level of N-alpha-acetyltransferase 10 in blood serum def: "The amount of a N-alpha-acetyltransferase 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum N-alpha-acetyltransferase 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040639 name: level of ADP-ribosylation factor 1 in blood serum def: "The amount of a ADP-ribosylation factor 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ADP-ribosylation factor 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040640 name: level of ADP-ribosylation factor 3 in blood serum def: "The amount of a ADP-ribosylation factor 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ADP-ribosylation factor 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040641 name: level of ADP-ribosylation factor 4 in blood serum def: "The amount of a ADP-ribosylation factor 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ADP-ribosylation factor 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040642 name: level of ADP-ribosylation factor 5 in blood serum def: "The amount of a ADP-ribosylation factor 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ADP-ribosylation factor 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040643 name: level of ADP-ribosylation factor 6 in blood serum def: "The amount of a ADP-ribosylation factor 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ADP-ribosylation factor 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040644 name: level of ADP-ribosylation factor GTPase-activating protein 1 in blood serum def: "The amount of a ADP-ribosylation factor GTPase-activating protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ADP-ribosylation factor GTPase-activating protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040645 name: level of ADP-ribosylation factor GTPase-activating protein 2 in blood serum def: "The amount of a ADP-ribosylation factor GTPase-activating protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ADP-ribosylation factor GTPase-activating protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040646 name: level of arfaptin-1 in blood serum def: "The amount of a arfaptin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum arfaptin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040647 name: level of arfaptin-2 in blood serum def: "The amount of a arfaptin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum arfaptin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040648 name: level of arginase-2, mitochondrial in blood serum def: "The amount of a arginase-2, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum arginase-2, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040649 name: level of Rho GTPase-activating protein 22 in blood serum def: "The amount of a Rho GTPase-activating protein 22 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Rho GTPase-activating protein 22 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040650 name: level of Rho GTPase-activating protein 24 in blood serum def: "The amount of a Rho GTPase-activating protein 24 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Rho GTPase-activating protein 24 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040651 name: level of Rho GTPase-activating protein 25 in blood serum def: "The amount of a Rho GTPase-activating protein 25 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Rho GTPase-activating protein 25 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040652 name: level of Rho GTPase-activating protein 26 in blood serum def: "The amount of a Rho GTPase-activating protein 26 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Rho GTPase-activating protein 26 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040653 name: level of Rho GTPase-activating protein 30 in blood serum def: "The amount of a Rho GTPase-activating protein 30 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Rho GTPase-activating protein 30 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040654 name: level of Rho GTPase-activating protein 5 in blood serum def: "The amount of a Rho GTPase-activating protein 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Rho GTPase-activating protein 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040655 name: level of Rho GTPase-activating protein 6 in blood serum def: "The amount of a Rho GTPase-activating protein 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Rho GTPase-activating protein 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040656 name: level of Rho GDP-dissociation inhibitor 2 in blood serum def: "The amount of a Rho GDP-dissociation inhibitor 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Rho GDP-dissociation inhibitor 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040657 name: level of Rho guanine nucleotide exchange factor 1 in blood serum def: "The amount of a Rho guanine nucleotide exchange factor 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Rho guanine nucleotide exchange factor 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040658 name: level of Rho guanine nucleotide exchange factor 10 in blood serum def: "The amount of a Rho guanine nucleotide exchange factor 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Rho guanine nucleotide exchange factor 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040659 name: level of Rho guanine nucleotide exchange factor 16 in blood serum def: "The amount of a Rho guanine nucleotide exchange factor 16 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Rho guanine nucleotide exchange factor 16 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040660 name: level of Rho guanine nucleotide exchange factor 2 in blood serum def: "The amount of a Rho guanine nucleotide exchange factor 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Rho guanine nucleotide exchange factor 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040661 name: level of Rho guanine nucleotide exchange factor 7 in blood serum def: "The amount of a Rho guanine nucleotide exchange factor 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Rho guanine nucleotide exchange factor 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040662 name: level of AT-rich interactive domain-containing protein 1A in blood serum def: "The amount of a AT-rich interactive domain-containing protein 1A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum AT-rich interactive domain-containing protein 1A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040663 name: level of ADP-ribosylation factor-like protein 1 in blood serum def: "The amount of a ADP-ribosylation factor-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ADP-ribosylation factor-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040664 name: level of ADP-ribosylation factor-like protein 11 in blood serum def: "The amount of a ADP-ribosylation factor-like protein 11 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ADP-ribosylation factor-like protein 11 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040665 name: level of ADP-ribosylation factor-like protein 15 in blood serum def: "The amount of a ADP-ribosylation factor-like protein 15 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ADP-ribosylation factor-like protein 15 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040666 name: level of ADP-ribosylation factor-like protein 2 in blood serum def: "The amount of a ADP-ribosylation factor-like protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ADP-ribosylation factor-like protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040667 name: level of ADP-ribosylation factor-like protein 2-binding protein in blood serum def: "The amount of a ADP-ribosylation factor-like protein 2-binding protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ADP-ribosylation factor-like protein 2-binding protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040668 name: level of ADP-ribosylation factor-like protein 3 in blood serum def: "The amount of a ADP-ribosylation factor-like protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ADP-ribosylation factor-like protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040669 name: level of ADP-ribosylation factor-like protein 4D in blood serum def: "The amount of a ADP-ribosylation factor-like protein 4D when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ADP-ribosylation factor-like protein 4D amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040670 name: level of ADP-ribosylation factor-like protein 5A in blood serum def: "The amount of a ADP-ribosylation factor-like protein 5A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ADP-ribosylation factor-like protein 5A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040671 name: level of ADP-ribosylation factor-like protein 5B in blood serum def: "The amount of a ADP-ribosylation factor-like protein 5B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ADP-ribosylation factor-like protein 5B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040672 name: level of ADP-ribosylation factor-like protein 6 in blood serum def: "The amount of a ADP-ribosylation factor-like protein 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ADP-ribosylation factor-like protein 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040673 name: level of ADP-ribosylation factor-like protein 6-interacting protein 1 in blood serum def: "The amount of a ADP-ribosylation factor-like protein 6-interacting protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ADP-ribosylation factor-like protein 6-interacting protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040674 name: level of PRA1 family protein 3 in blood serum def: "The amount of a PRA1 family protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PRA1 family protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040675 name: level of ADP-ribosylation factor-like protein 8A in blood serum def: "The amount of a ADP-ribosylation factor-like protein 8A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ADP-ribosylation factor-like protein 8A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040676 name: level of ADP-ribosylation factor-like protein 8B in blood serum def: "The amount of a ADP-ribosylation factor-like protein 8B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ADP-ribosylation factor-like protein 8B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040677 name: level of ADP-ribosylation factor-like protein 9 in blood serum def: "The amount of a ADP-ribosylation factor-like protein 9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ADP-ribosylation factor-like protein 9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040678 name: level of armadillo repeat-containing protein 10 in blood serum def: "The amount of a armadillo repeat-containing protein 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum armadillo repeat-containing protein 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040679 name: level of protein ARMET in blood serum def: "The amount of a protein ARMET when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein ARMET amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040680 name: level of aryl hydrocarbon receptor nuclear translocator in blood serum def: "The amount of a aryl hydrocarbon receptor nuclear translocator when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum aryl hydrocarbon receptor nuclear translocator amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040681 name: level of actin-related protein 2/3 complex subunit 2 in blood serum def: "The amount of a actin-related protein 2/3 complex subunit 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum actin-related protein 2/3 complex subunit 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040682 name: level of actin-related protein 2/3 complex subunit 3 in blood serum def: "The amount of a actin-related protein 2/3 complex subunit 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum actin-related protein 2/3 complex subunit 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040683 name: level of actin-related protein 2/3 complex subunit 5 in blood serum def: "The amount of a actin-related protein 2/3 complex subunit 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum actin-related protein 2/3 complex subunit 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040684 name: level of cAMP-regulated phosphoprotein 21 in blood serum def: "The amount of a cAMP-regulated phosphoprotein 21 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cAMP-regulated phosphoprotein 21 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040685 name: level of beta-arrestin-1 in blood serum def: "The amount of a beta-arrestin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-arrestin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040686 name: level of arylsulfatase K in blood serum def: "The amount of a arylsulfatase K when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum arylsulfatase K amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040687 name: level of arsenite methyltransferase in blood serum def: "The amount of a arsenite methyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum arsenite methyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040688 name: level of acid ceramidase in blood serum def: "The amount of a acid ceramidase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum acid ceramidase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040689 name: level of Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 in blood serum def: "The amount of a Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040690 name: level of Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 in blood serum def: "The amount of a Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040691 name: level of ankyrin repeat and SOCS box protein 13 in blood serum def: "The amount of a ankyrin repeat and SOCS box protein 13 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ankyrin repeat and SOCS box protein 13 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040692 name: level of ankyrin repeat and SOCS box protein 8 in blood serum def: "The amount of a ankyrin repeat and SOCS box protein 8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ankyrin repeat and SOCS box protein 8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040693 name: level of ankyrin repeat and SOCS box protein 9 in blood serum def: "The amount of a ankyrin repeat and SOCS box protein 9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ankyrin repeat and SOCS box protein 9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040694 name: level of activating signal cointegrator 1 complex subunit 1 in blood serum def: "The amount of a activating signal cointegrator 1 complex subunit 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum activating signal cointegrator 1 complex subunit 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040695 name: level of activating signal cointegrator 1 complex subunit 2 in blood serum def: "The amount of a activating signal cointegrator 1 complex subunit 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum activating signal cointegrator 1 complex subunit 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040696 name: level of histone chaperone ASF1A in blood serum def: "The amount of a histone chaperone ASF1A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum histone chaperone ASF1A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040697 name: level of histone chaperone ASF1B in blood serum def: "The amount of a histone chaperone ASF1B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum histone chaperone ASF1B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040698 name: level of asialoglycoprotein receptor 2 in blood serum def: "The amount of a asialoglycoprotein receptor 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum asialoglycoprotein receptor 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040699 name: level of Set1/Ash2 histone methyltransferase complex subunit ASH2 in blood serum def: "The amount of a Set1/Ash2 histone methyltransferase complex subunit ASH2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Set1/Ash2 histone methyltransferase complex subunit ASH2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040700 name: level of agouti-signaling protein in blood serum def: "The amount of a agouti-signaling protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum agouti-signaling protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040701 name: level of argininosuccinate lyase in blood serum def: "The amount of a argininosuccinate lyase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum argininosuccinate lyase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040702 name: level of probable bifunctional dTTP/UTP pyrophosphatase/methyltransferase protein in blood serum def: "The amount of a probable bifunctional dTTP/UTP pyrophosphatase/methyltransferase protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum probable bifunctional dTTP/UTP pyrophosphatase/methyltransferase protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040703 name: level of ATPase GET3 in blood serum def: "The amount of a ATPase GET3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ATPase GET3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040704 name: level of aspartoacylase in blood serum def: "The amount of a aspartoacylase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum aspartoacylase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040705 name: level of aspartyl/asparaginyl beta-hydroxylase in blood serum def: "The amount of a aspartyl/asparaginyl beta-hydroxylase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum aspartyl/asparaginyl beta-hydroxylase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040706 name: level of asporin in blood serum def: "The amount of a asporin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum asporin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040707 name: level of tether containing UBX domain for GLUT4 in blood serum def: "The amount of a tether containing UBX domain for GLUT4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tether containing UBX domain for GLUT4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040708 name: level of L-asparaginase in blood serum def: "The amount of a L-asparaginase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum L-asparaginase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040709 name: level of astacin-like metalloendopeptidase in blood serum def: "The amount of a astacin-like metalloendopeptidase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum astacin-like metalloendopeptidase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040710 name: level of ATPase family AAA domain-containing protein 2 in blood serum def: "The amount of a ATPase family AAA domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ATPase family AAA domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040711 name: level of arginyl-tRNA--protein transferase 1 in blood serum def: "The amount of a arginyl-tRNA--protein transferase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum arginyl-tRNA--protein transferase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040712 name: level of cyclic AMP-dependent transcription factor ATF-1 in blood serum def: "The amount of a cyclic AMP-dependent transcription factor ATF-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cyclic AMP-dependent transcription factor ATF-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040713 name: level of cyclic AMP-dependent transcription factor ATF-3 in blood serum def: "The amount of a cyclic AMP-dependent transcription factor ATF-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cyclic AMP-dependent transcription factor ATF-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040714 name: level of cyclic AMP-dependent transcription factor ATF-5 in blood serum def: "The amount of a cyclic AMP-dependent transcription factor ATF-5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cyclic AMP-dependent transcription factor ATF-5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040715 name: level of cyclic AMP-dependent transcription factor ATF-6 alpha in blood serum def: "The amount of a cyclic AMP-dependent transcription factor ATF-6 alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cyclic AMP-dependent transcription factor ATF-6 alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040716 name: level of cyclic AMP-dependent transcription factor ATF-6 beta in blood serum def: "The amount of a cyclic AMP-dependent transcription factor ATF-6 beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cyclic AMP-dependent transcription factor ATF-6 beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040717 name: level of ubiquitin-like-conjugating enzyme ATG3 in blood serum def: "The amount of a ubiquitin-like-conjugating enzyme ATG3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin-like-conjugating enzyme ATG3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040718 name: level of cysteine protease ATG4A in blood serum def: "The amount of a cysteine protease ATG4A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cysteine protease ATG4A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040719 name: level of cysteine protease ATG4B in blood serum def: "The amount of a cysteine protease ATG4B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cysteine protease ATG4B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040720 name: level of cysteine protease ATG4C in blood serum def: "The amount of a cysteine protease ATG4C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cysteine protease ATG4C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040721 name: level of autophagy protein 5 in blood serum def: "The amount of a autophagy protein 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum autophagy protein 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040722 name: level of bifunctional purine biosynthesis protein ATIC in blood serum def: "The amount of a bifunctional purine biosynthesis protein ATIC when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum bifunctional purine biosynthesis protein ATIC amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040723 name: level of atlastin-3 in blood serum def: "The amount of a atlastin-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum atlastin-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040724 name: level of transcription factor ATOH1 in blood serum def: "The amount of a transcription factor ATOH1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription factor ATOH1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040725 name: level of copper transport protein ATOX1 in blood serum def: "The amount of a copper transport protein ATOX1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum copper transport protein ATOX1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040726 name: level of sodium/potassium-transporting ATPase subunit beta-2 in blood serum def: "The amount of a sodium/potassium-transporting ATPase subunit beta-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sodium/potassium-transporting ATPase subunit beta-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040727 name: level of protein ATP1B4 in blood serum def: "The amount of a protein ATP1B4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein ATP1B4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040728 name: level of sarcoplasmic/endoplasmic reticulum calcium ATPase 3 in blood serum def: "The amount of a sarcoplasmic/endoplasmic reticulum calcium ATPase 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sarcoplasmic/endoplasmic reticulum calcium ATPase 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040729 name: level of ATP synthase F(0) complex subunit B1, mitochondrial in blood serum def: "The amount of a ATP synthase F(0) complex subunit B1, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ATP synthase F(0) complex subunit B1, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040730 name: level of ATP synthase-coupling factor 6, mitochondrial in blood serum def: "The amount of a ATP synthase-coupling factor 6, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ATP synthase-coupling factor 6, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040731 name: level of ATP synthase subunit f, mitochondrial in blood serum def: "The amount of a ATP synthase subunit f, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ATP synthase subunit f, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040732 name: level of ATP synthase subunit O, mitochondrial in blood serum def: "The amount of a ATP synthase subunit O, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ATP synthase subunit O, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040733 name: level of V-type proton ATPase subunit C 1 in blood serum def: "The amount of a V-type proton ATPase subunit C 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum V-type proton ATPase subunit C 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040734 name: level of V-type proton ATPase subunit C 2 in blood serum def: "The amount of a V-type proton ATPase subunit C 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum V-type proton ATPase subunit C 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040735 name: level of ATPase inhibitor, mitochondrial in blood serum def: "The amount of a ATPase inhibitor, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ATPase inhibitor, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040736 name: level of attractin in blood serum def: "The amount of a attractin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum attractin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040737 name: level of ataxin-10 in blood serum def: "The amount of a ataxin-10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ataxin-10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040738 name: level of ataxin-3 in blood serum def: "The amount of a ataxin-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ataxin-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040739 name: level of methylglutaconyl-CoA hydratase, mitochondrial in blood serum def: "The amount of a methylglutaconyl-CoA hydratase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum methylglutaconyl-CoA hydratase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040740 name: level of cell death regulator Aven in blood serum def: "The amount of a cell death regulator Aven when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cell death regulator Aven amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040741 name: level of Axin-2 in blood serum def: "The amount of a Axin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Axin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040742 name: level of zinc-alpha-2-glycoprotein in blood serum def: "The amount of a zinc-alpha-2-glycoprotein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc-alpha-2-glycoprotein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040743 name: level of antizyme inhibitor 1 in blood serum def: "The amount of a antizyme inhibitor 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum antizyme inhibitor 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040744 name: level of A-kinase anchor protein 7 in blood serum def: "The amount of a A-kinase anchor protein 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum A-kinase anchor protein 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040745 name: level of beta-1,3-galactosyltransferase 1 in blood serum def: "The amount of a beta-1,3-galactosyltransferase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-1,3-galactosyltransferase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040746 name: level of beta-1,3-galactosyltransferase 2 in blood serum def: "The amount of a beta-1,3-galactosyltransferase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-1,3-galactosyltransferase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040747 name: level of beta-1,3-galactosyltransferase 5 in blood serum def: "The amount of a beta-1,3-galactosyltransferase 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-1,3-galactosyltransferase 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040748 name: level of beta-1,3-galactosyltransferase 6 in blood serum def: "The amount of a beta-1,3-galactosyltransferase 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-1,3-galactosyltransferase 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040749 name: level of beta-1,3-glucosyltransferase in blood serum def: "The amount of a beta-1,3-glucosyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-1,3-glucosyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040750 name: level of galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 in blood serum def: "The amount of a galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040751 name: level of N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2 in blood serum def: "The amount of a N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040752 name: level of N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 4 in blood serum def: "The amount of a N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040753 name: level of acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase in blood serum def: "The amount of a acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040754 name: level of UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 in blood serum def: "The amount of a UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040755 name: level of beta-1,4 N-acetylgalactosaminyltransferase 1 in blood serum def: "The amount of a beta-1,4 N-acetylgalactosaminyltransferase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-1,4 N-acetylgalactosaminyltransferase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040756 name: level of beta-1,4-galactosyltransferase 1 in blood serum def: "The amount of a beta-1,4-galactosyltransferase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-1,4-galactosyltransferase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040757 name: level of beta-1,4-galactosyltransferase 2 in blood serum def: "The amount of a beta-1,4-galactosyltransferase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-1,4-galactosyltransferase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040758 name: level of beta-1,4-galactosyltransferase 3 in blood serum def: "The amount of a beta-1,4-galactosyltransferase 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-1,4-galactosyltransferase 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040759 name: level of beta-1,4-galactosyltransferase 5 in blood serum def: "The amount of a beta-1,4-galactosyltransferase 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-1,4-galactosyltransferase 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040760 name: level of beta-1,4-galactosyltransferase 6 in blood serum def: "The amount of a beta-1,4-galactosyltransferase 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-1,4-galactosyltransferase 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040761 name: level of beta-1,4-galactosyltransferase 7 in blood serum def: "The amount of a beta-1,4-galactosyltransferase 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-1,4-galactosyltransferase 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040762 name: level of B9 domain-containing protein 2 in blood serum def: "The amount of a B9 domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum B9 domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040763 name: level of transcription regulator protein BACH1 in blood serum def: "The amount of a transcription regulator protein BACH1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription regulator protein BACH1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040764 name: level of transcription regulator protein BACH2 in blood serum def: "The amount of a transcription regulator protein BACH2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription regulator protein BACH2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040765 name: level of BAG family molecular chaperone regulator 1 in blood serum def: "The amount of a BAG family molecular chaperone regulator 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum BAG family molecular chaperone regulator 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040766 name: level of BAG family molecular chaperone regulator 2 in blood serum def: "The amount of a BAG family molecular chaperone regulator 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum BAG family molecular chaperone regulator 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040767 name: level of BAG family molecular chaperone regulator 3 in blood serum def: "The amount of a BAG family molecular chaperone regulator 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum BAG family molecular chaperone regulator 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040768 name: level of BAG family molecular chaperone regulator 4 in blood serum def: "The amount of a BAG family molecular chaperone regulator 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum BAG family molecular chaperone regulator 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040769 name: level of BAG family molecular chaperone regulator 5 in blood serum def: "The amount of a BAG family molecular chaperone regulator 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum BAG family molecular chaperone regulator 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040770 name: level of B melanoma antigen 2 in blood serum def: "The amount of a B melanoma antigen 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum B melanoma antigen 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040771 name: level of B melanoma antigen 3 in blood serum def: "The amount of a B melanoma antigen 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum B melanoma antigen 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040772 name: level of adhesion G protein-coupled receptor B1 in blood serum def: "The amount of a adhesion G protein-coupled receptor B1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum adhesion G protein-coupled receptor B1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040773 name: level of adhesion G protein-coupled receptor B2 in blood serum def: "The amount of a adhesion G protein-coupled receptor B2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum adhesion G protein-coupled receptor B2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040774 name: level of adhesion G protein-coupled receptor B3 in blood serum def: "The amount of a adhesion G protein-coupled receptor B3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum adhesion G protein-coupled receptor B3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040775 name: level of brain-specific angiogenesis inhibitor 1-associated protein 2 in blood serum def: "The amount of a brain-specific angiogenesis inhibitor 1-associated protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum brain-specific angiogenesis inhibitor 1-associated protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040776 name: level of ubiquitin carboxyl-terminal hydrolase BAP1 in blood serum def: "The amount of a ubiquitin carboxyl-terminal hydrolase BAP1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin carboxyl-terminal hydrolase BAP1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040777 name: level of BRCA1-associated RING domain protein 1 in blood serum def: "The amount of a BRCA1-associated RING domain protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum BRCA1-associated RING domain protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040778 name: level of brain acid soluble protein 1 in blood serum def: "The amount of a brain acid soluble protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum brain acid soluble protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040779 name: level of spliceosome RNA helicase BAT1 in blood serum def: "The amount of a spliceosome RNA helicase BAT1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum spliceosome RNA helicase BAT1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040780 name: level of large proline-rich protein BAT3 in blood serum def: "The amount of a large proline-rich protein BAT3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum large proline-rich protein BAT3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040781 name: level of basic leucine zipper transcriptional factor ATF-like in blood serum def: "The amount of a basic leucine zipper transcriptional factor ATF-like when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum basic leucine zipper transcriptional factor ATF-like amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040782 name: level of basic leucine zipper transcriptional factor ATF-like 3 in blood serum def: "The amount of a basic leucine zipper transcriptional factor ATF-like 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum basic leucine zipper transcriptional factor ATF-like 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040783 name: level of B-cell receptor-associated protein 29 in blood serum def: "The amount of a B-cell receptor-associated protein 29 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum B-cell receptor-associated protein 29 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040784 name: level of branched-chain-amino-acid aminotransferase, mitochondrial in blood serum def: "The amount of a branched-chain-amino-acid aminotransferase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum branched-chain-amino-acid aminotransferase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040785 name: level of BRCA2 and CDKN1A-interacting protein in blood serum def: "The amount of a BRCA2 and CDKN1A-interacting protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum BRCA2 and CDKN1A-interacting protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040786 name: level of cholinesterase in blood serum def: "The amount of a cholinesterase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cholinesterase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040787 name: level of B-cell lymphoma/leukemia 10 in blood serum def: "The amount of a B-cell lymphoma/leukemia 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum B-cell lymphoma/leukemia 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040788 name: level of B-cell lymphoma/leukemia 11A in blood serum def: "The amount of a B-cell lymphoma/leukemia 11A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum B-cell lymphoma/leukemia 11A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040789 name: level of Bcl-2-like protein 10 in blood serum def: "The amount of a Bcl-2-like protein 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Bcl-2-like protein 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040790 name: level of dehydrogenase/reductase SDR family member 6 in blood serum def: "The amount of a dehydrogenase/reductase SDR family member 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dehydrogenase/reductase SDR family member 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040791 name: level of transcription factor TFIIIB component B'' in blood serum def: "The amount of a transcription factor TFIIIB component B'' when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription factor TFIIIB component B'' amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040792 name: level of beclin-1 in blood serum def: "The amount of a beclin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beclin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040793 name: level of BET1-like protein in blood serum def: "The amount of a BET1-like protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum BET1-like protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040794 name: level of protein BEX2 in blood serum def: "The amount of a protein BEX2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein BEX2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040795 name: level of protein BEX4 in blood serum def: "The amount of a protein BEX4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein BEX4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040796 name: level of protein BEX5 in blood serum def: "The amount of a protein BEX5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein BEX5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040797 name: level of betaine--homocysteine S-methyltransferase 2 in blood serum def: "The amount of a betaine--homocysteine S-methyltransferase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum betaine--homocysteine S-methyltransferase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040798 name: level of Myc box-dependent-interacting protein 1 in blood serum def: "The amount of a Myc box-dependent-interacting protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Myc box-dependent-interacting protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040799 name: level of bridging integrator 2 in blood serum def: "The amount of a bridging integrator 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum bridging integrator 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040800 name: level of bridging integrator 3 in blood serum def: "The amount of a bridging integrator 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum bridging integrator 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040801 name: level of baculoviral IAP repeat-containing protein 2 in blood serum def: "The amount of a baculoviral IAP repeat-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum baculoviral IAP repeat-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040802 name: level of tyrosine-protein kinase BLK in blood serum def: "The amount of a tyrosine-protein kinase BLK when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tyrosine-protein kinase BLK amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040803 name: level of bleomycin hydrolase in blood serum def: "The amount of a bleomycin hydrolase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum bleomycin hydrolase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040804 name: level of B-cell linker protein in blood serum def: "The amount of a B-cell linker protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum B-cell linker protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040805 name: level of biogenesis of lysosome-related organelles complex 1 subunit 1 in blood serum def: "The amount of a biogenesis of lysosome-related organelles complex 1 subunit 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum biogenesis of lysosome-related organelles complex 1 subunit 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040806 name: level of biogenesis of lysosome-related organelles complex 1 subunit 2 in blood serum def: "The amount of a biogenesis of lysosome-related organelles complex 1 subunit 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum biogenesis of lysosome-related organelles complex 1 subunit 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040807 name: level of biogenesis of lysosome-related organelles complex 1 subunit 3 in blood serum def: "The amount of a biogenesis of lysosome-related organelles complex 1 subunit 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum biogenesis of lysosome-related organelles complex 1 subunit 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040808 name: level of biliverdin reductase A in blood serum def: "The amount of a biliverdin reductase A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum biliverdin reductase A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040809 name: level of flavin reductase in blood serum def: "The amount of a flavin reductase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum flavin reductase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040810 name: level of Bcl-2-modifying factor in blood serum def: "The amount of a Bcl-2-modifying factor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Bcl-2-modifying factor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040811 name: level of Polycomb complex protein BMI-1 in blood serum def: "The amount of a Polycomb complex protein BMI-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Polycomb complex protein BMI-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040812 name: level of bone morphogenetic protein 15 in blood serum def: "The amount of a bone morphogenetic protein 15 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum bone morphogenetic protein 15 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040813 name: level of bone morphogenetic protein 3 in blood serum def: "The amount of a bone morphogenetic protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum bone morphogenetic protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040814 name: level of BCL2/adenovirus E1B 19 kDa protein-interacting protein 3 in blood serum def: "The amount of a BCL2/adenovirus E1B 19 kDa protein-interacting protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum BCL2/adenovirus E1B 19 kDa protein-interacting protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040815 name: level of BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like in blood serum def: "The amount of a BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040816 name: level of BolA-like protein 1 in blood serum def: "The amount of a BolA-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum BolA-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040817 name: level of BolA-like protein 2 in blood serum def: "The amount of a BolA-like protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum BolA-like protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040818 name: level of BolA-like protein 3 in blood serum def: "The amount of a BolA-like protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum BolA-like protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040819 name: level of bisphosphoglycerate mutase in blood serum def: "The amount of a bisphosphoglycerate mutase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum bisphosphoglycerate mutase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040820 name: level of valacyclovir hydrolase in blood serum def: "The amount of a valacyclovir hydrolase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum valacyclovir hydrolase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040821 name: level of 3'(2'),5'-bisphosphate nucleotidase 1 in blood serum def: "The amount of a 3'(2'),5'-bisphosphate nucleotidase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 3'(2'),5'-bisphosphate nucleotidase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040822 name: level of nucleosome-remodeling factor subunit BPTF in blood serum def: "The amount of a nucleosome-remodeling factor subunit BPTF when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nucleosome-remodeling factor subunit BPTF amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040823 name: level of B-Raf proto-oncogene serine/threonine-protein kinase in blood serum def: "The amount of a B-Raf proto-oncogene serine/threonine-protein kinase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum B-Raf proto-oncogene serine/threonine-protein kinase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040824 name: level of bromodomain-containing protein 2 in blood serum def: "The amount of a bromodomain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum bromodomain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040825 name: level of bromodomain-containing protein 4 in blood serum def: "The amount of a bromodomain-containing protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum bromodomain-containing protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040826 name: level of bromodomain testis-specific protein in blood serum def: "The amount of a bromodomain testis-specific protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum bromodomain testis-specific protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040827 name: level of breast cancer metastasis-suppressor 1-like protein in blood serum def: "The amount of a breast cancer metastasis-suppressor 1-like protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum breast cancer metastasis-suppressor 1-like protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040828 name: level of brain protein 44-like protein in blood serum def: "The amount of a brain protein 44-like protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum brain protein 44-like protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040829 name: level of peregrin in blood serum def: "The amount of a peregrin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum peregrin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040830 name: level of serine/threonine-protein kinase BRSK2 in blood serum def: "The amount of a serine/threonine-protein kinase BRSK2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine/threonine-protein kinase BRSK2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040831 name: level of biotinidase in blood serum def: "The amount of a biotinidase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum biotinidase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040832 name: level of protein BTG1 in blood serum def: "The amount of a protein BTG1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein BTG1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040833 name: level of protein BTG2 in blood serum def: "The amount of a protein BTG2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein BTG2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040834 name: level of protein BTG4 in blood serum def: "The amount of a protein BTG4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein BTG4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040835 name: level of butyrophilin subfamily 1 member A1 in blood serum def: "The amount of a butyrophilin subfamily 1 member A1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum butyrophilin subfamily 1 member A1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040836 name: level of butyrophilin-like protein 3 in blood serum def: "The amount of a butyrophilin-like protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum butyrophilin-like protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040837 name: level of butyrophilin-like protein 8 in blood serum def: "The amount of a butyrophilin-like protein 8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum butyrophilin-like protein 8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040838 name: level of butyrophilin-like protein 9 in blood serum def: "The amount of a butyrophilin-like protein 9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum butyrophilin-like protein 9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040839 name: level of mitotic checkpoint serine/threonine-protein kinase BUB1 in blood serum def: "The amount of a mitotic checkpoint serine/threonine-protein kinase BUB1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mitotic checkpoint serine/threonine-protein kinase BUB1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040840 name: level of protein BUD31 in blood serum def: "The amount of a protein BUD31 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein BUD31 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040841 name: level of eIF5-mimic protein 1 in blood serum def: "The amount of a eIF5-mimic protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum eIF5-mimic protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040842 name: level of nuclear nucleic acid-binding protein C1D in blood serum def: "The amount of a nuclear nucleic acid-binding protein C1D when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nuclear nucleic acid-binding protein C1D amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040843 name: level of glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 in blood serum def: "The amount of a glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040844 name: level of C1GALT1-specific chaperone 1 in blood serum def: "The amount of a C1GALT1-specific chaperone 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum C1GALT1-specific chaperone 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040845 name: level of C1q-related factor in blood serum def: "The amount of a C1q-related factor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum C1q-related factor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040846 name: level of complement C1q-like protein 2 in blood serum def: "The amount of a complement C1q-like protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum complement C1q-like protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040847 name: level of complement C1q-like protein 3 in blood serum def: "The amount of a complement C1q-like protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum complement C1q-like protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040848 name: level of complement C1q-like protein 4 in blood serum def: "The amount of a complement C1q-like protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum complement C1q-like protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040849 name: level of complement C1q tumor necrosis factor-related protein 1 in blood serum def: "The amount of a complement C1q tumor necrosis factor-related protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum complement C1q tumor necrosis factor-related protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040850 name: level of complement C1q tumor necrosis factor-related protein 3 in blood serum def: "The amount of a complement C1q tumor necrosis factor-related protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum complement C1q tumor necrosis factor-related protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040851 name: level of complement C1q tumor necrosis factor-related protein 4 in blood serum def: "The amount of a complement C1q tumor necrosis factor-related protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum complement C1q tumor necrosis factor-related protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040852 name: level of complement C1q tumor necrosis factor-related protein 5 in blood serum def: "The amount of a complement C1q tumor necrosis factor-related protein 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum complement C1q tumor necrosis factor-related protein 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040853 name: level of complement C1q and tumor necrosis factor-related protein 9A in blood serum def: "The amount of a complement C1q and tumor necrosis factor-related protein 9A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum complement C1q and tumor necrosis factor-related protein 9A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040854 name: level of complement C1r subcomponent-like protein in blood serum def: "The amount of a complement C1r subcomponent-like protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum complement C1r subcomponent-like protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040855 name: level of complement C4-A in blood serum def: "The amount of a complement C4-A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum complement C4-A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040856 name: level of complement C4-B in blood serum def: "The amount of a complement C4-B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum complement C4-B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040857 name: level of complement component C8 gamma chain in blood serum def: "The amount of a complement component C8 gamma chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum complement component C8 gamma chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040858 name: level of carbonic anhydrase 12 in blood serum def: "The amount of a carbonic anhydrase 12 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum carbonic anhydrase 12 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040859 name: level of carbonic anhydrase 5A, mitochondrial in blood serum def: "The amount of a carbonic anhydrase 5A, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum carbonic anhydrase 5A, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040860 name: level of carbonic anhydrase 5B, mitochondrial in blood serum def: "The amount of a carbonic anhydrase 5B, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum carbonic anhydrase 5B, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040861 name: level of carbonic anhydrase-related protein in blood serum def: "The amount of a carbonic anhydrase-related protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum carbonic anhydrase-related protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040862 name: level of calcium-binding protein 39 in blood serum def: "The amount of a calcium-binding protein 39 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calcium-binding protein 39 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040863 name: level of calcium-binding protein 39-like in blood serum def: "The amount of a calcium-binding protein 39-like when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calcium-binding protein 39-like amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040864 name: level of CDK5 and ABL1 enzyme substrate 2 in blood serum def: "The amount of a CDK5 and ABL1 enzyme substrate 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CDK5 and ABL1 enzyme substrate 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040865 name: level of calcium-binding protein 2 in blood serum def: "The amount of a calcium-binding protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calcium-binding protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040866 name: level of calcium-binding protein 5 in blood serum def: "The amount of a calcium-binding protein 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calcium-binding protein 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040867 name: level of calcium-binding protein 7 in blood serum def: "The amount of a calcium-binding protein 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calcium-binding protein 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040868 name: level of voltage-dependent calcium channel subunit alpha-2/delta-3 in blood serum def: "The amount of a voltage-dependent calcium channel subunit alpha-2/delta-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum voltage-dependent calcium channel subunit alpha-2/delta-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040869 name: level of voltage-dependent L-type calcium channel subunit beta-3 in blood serum def: "The amount of a voltage-dependent L-type calcium channel subunit beta-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum voltage-dependent L-type calcium channel subunit beta-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040870 name: level of voltage-dependent L-type calcium channel subunit beta-4 in blood serum def: "The amount of a voltage-dependent L-type calcium channel subunit beta-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum voltage-dependent L-type calcium channel subunit beta-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040871 name: level of calcyclin-binding protein in blood serum def: "The amount of a calcyclin-binding protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calcyclin-binding protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040872 name: level of cell adhesion molecule 2 in blood serum def: "The amount of a cell adhesion molecule 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cell adhesion molecule 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040873 name: level of calcium-dependent secretion activator 2 in blood serum def: "The amount of a calcium-dependent secretion activator 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calcium-dependent secretion activator 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040874 name: level of calbindin in blood serum def: "The amount of a calbindin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calbindin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040875 name: level of calretinin in blood serum def: "The amount of a calretinin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calretinin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040876 name: level of calcitonin gene-related peptide 2 in blood serum def: "The amount of a calcitonin gene-related peptide 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calcitonin gene-related peptide 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040877 name: level of calcium-binding and coiled-coil domain-containing protein 2 in blood serum def: "The amount of a calcium-binding and coiled-coil domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calcium-binding and coiled-coil domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040878 name: level of calcitonin receptor in blood serum def: "The amount of a calcitonin receptor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calcitonin receptor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040879 name: level of caldesmon in blood serum def: "The amount of a caldesmon when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum caldesmon amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040880 name: level of calcium-binding protein 8 in blood serum def: "The amount of a calcium-binding protein 8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calcium-binding protein 8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040881 name: level of neuron-specific vesicular protein calcyon in blood serum def: "The amount of a neuron-specific vesicular protein calcyon when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neuron-specific vesicular protein calcyon amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040882 name: level of calcium/calmodulin-dependent protein kinase II inhibitor 2 in blood serum def: "The amount of a calcium/calmodulin-dependent protein kinase II inhibitor 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calcium/calmodulin-dependent protein kinase II inhibitor 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040883 name: level of calcium/calmodulin-dependent protein kinase type IV in blood serum def: "The amount of a calcium/calmodulin-dependent protein kinase type IV when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calcium/calmodulin-dependent protein kinase type IV amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040884 name: level of guided entry of tail-anchored proteins factor CAMLG in blood serum def: "The amount of a guided entry of tail-anchored proteins factor CAMLG when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum guided entry of tail-anchored proteins factor CAMLG amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040885 name: level of cullin-associated NEDD8-dissociated protein 1 in blood serum def: "The amount of a cullin-associated NEDD8-dissociated protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cullin-associated NEDD8-dissociated protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040886 name: level of soluble calcium-activated nucleotidase 1 in blood serum def: "The amount of a soluble calcium-activated nucleotidase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum soluble calcium-activated nucleotidase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040887 name: level of calnexin in blood serum def: "The amount of a calnexin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calnexin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040888 name: level of calpain-13 in blood serum def: "The amount of a calpain-13 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calpain-13 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040889 name: level of calpain-2 catalytic subunit in blood serum def: "The amount of a calpain-2 catalytic subunit when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calpain-2 catalytic subunit amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040890 name: level of calpain-3 in blood serum def: "The amount of a calpain-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calpain-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040891 name: level of calpain-9 in blood serum def: "The amount of a calpain-9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calpain-9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040892 name: level of calpain small subunit 1 in blood serum def: "The amount of a calpain small subunit 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calpain small subunit 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040893 name: level of calpain small subunit 2 in blood serum def: "The amount of a calpain small subunit 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calpain small subunit 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040894 name: level of calcyphosin in blood serum def: "The amount of a calcyphosin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calcyphosin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040895 name: level of calcyphosin-like protein in blood serum def: "The amount of a calcyphosin-like protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calcyphosin-like protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040896 name: level of F-actin-capping protein subunit beta in blood serum def: "The amount of a F-actin-capping protein subunit beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum F-actin-capping protein subunit beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040897 name: level of putative caspase recruitment domain-containing protein 17P in blood serum def: "The amount of a putative caspase recruitment domain-containing protein 17P when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum putative caspase recruitment domain-containing protein 17P amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040898 name: level of caspase recruitment domain-containing protein 18 in blood serum def: "The amount of a caspase recruitment domain-containing protein 18 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum caspase recruitment domain-containing protein 18 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040899 name: level of caspase recruitment domain-containing protein 9 in blood serum def: "The amount of a caspase recruitment domain-containing protein 9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum caspase recruitment domain-containing protein 9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040900 name: level of calcium-regulated heat-stable protein 1 in blood serum def: "The amount of a calcium-regulated heat-stable protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calcium-regulated heat-stable protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040901 name: level of cysteine--tRNA ligase, cytoplasmic in blood serum def: "The amount of a cysteine--tRNA ligase, cytoplasmic when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cysteine--tRNA ligase, cytoplasmic amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040902 name: level of cocaine- and amphetamine-regulated transcript protein in blood serum def: "The amount of a cocaine- and amphetamine-regulated transcript protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cocaine- and amphetamine-regulated transcript protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040903 name: level of protein GOLM2 in blood serum def: "The amount of a protein GOLM2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein GOLM2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040904 name: level of peripheral plasma membrane protein CASK in blood serum def: "The amount of a peripheral plasma membrane protein CASK when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum peripheral plasma membrane protein CASK amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040905 name: level of calsequestrin-1 in blood serum def: "The amount of a calsequestrin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calsequestrin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040906 name: level of calsequestrin-2 in blood serum def: "The amount of a calsequestrin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calsequestrin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040907 name: level of Cas scaffolding protein family member 4 in blood serum def: "The amount of a Cas scaffolding protein family member 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Cas scaffolding protein family member 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040908 name: level of caveolin-2 in blood serum def: "The amount of a caveolin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum caveolin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040909 name: level of caveolin-3 in blood serum def: "The amount of a caveolin-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum caveolin-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040910 name: level of core-binding factor subunit beta in blood serum def: "The amount of a core-binding factor subunit beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum core-binding factor subunit beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040911 name: level of E3 ubiquitin-protein ligase CBL in blood serum def: "The amount of a E3 ubiquitin-protein ligase CBL when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 ubiquitin-protein ligase CBL amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040912 name: level of E3 ubiquitin-protein ligase CBL-C in blood serum def: "The amount of a E3 ubiquitin-protein ligase CBL-C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 ubiquitin-protein ligase CBL-C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040913 name: level of cerebellin-1 in blood serum def: "The amount of a cerebellin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cerebellin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040914 name: level of cerebellin-2 in blood serum def: "The amount of a cerebellin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cerebellin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040915 name: level of cerebellin-4 in blood serum def: "The amount of a cerebellin-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cerebellin-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040916 name: level of carbonyl reductase [NADPH] 1 in blood serum def: "The amount of a carbonyl reductase [NADPH] 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum carbonyl reductase [NADPH] 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040917 name: level of carbonyl reductase [NADPH] 3 in blood serum def: "The amount of a carbonyl reductase [NADPH] 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum carbonyl reductase [NADPH] 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040918 name: level of 3-oxoacyl-[acyl-carrier-protein] reductase in blood serum def: "The amount of a 3-oxoacyl-[acyl-carrier-protein] reductase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 3-oxoacyl-[acyl-carrier-protein] reductase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040919 name: level of cystathionine beta-synthase in blood serum def: "The amount of a cystathionine beta-synthase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cystathionine beta-synthase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040920 name: level of chromobox protein homolog 1 in blood serum def: "The amount of a chromobox protein homolog 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum chromobox protein homolog 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040921 name: level of chromobox protein homolog 2 in blood serum def: "The amount of a chromobox protein homolog 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum chromobox protein homolog 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040922 name: level of chromobox protein homolog 3 in blood serum def: "The amount of a chromobox protein homolog 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum chromobox protein homolog 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040923 name: level of chromobox protein homolog 7 in blood serum def: "The amount of a chromobox protein homolog 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum chromobox protein homolog 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040924 name: level of kynurenine--oxoglutarate transaminase 1 in blood serum def: "The amount of a kynurenine--oxoglutarate transaminase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum kynurenine--oxoglutarate transaminase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040925 name: level of kynurenine--oxoglutarate transaminase 3 in blood serum def: "The amount of a kynurenine--oxoglutarate transaminase 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum kynurenine--oxoglutarate transaminase 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040926 name: level of SAGA-associated factor 29 in blood serum def: "The amount of a SAGA-associated factor 29 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SAGA-associated factor 29 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040927 name: level of HAUS augmin-like complex subunit 1 in blood serum def: "The amount of a HAUS augmin-like complex subunit 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum HAUS augmin-like complex subunit 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040928 name: level of thyroid transcription factor 1-associated protein 26 in blood serum def: "The amount of a thyroid transcription factor 1-associated protein 26 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum thyroid transcription factor 1-associated protein 26 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040929 name: level of cholecystokinin in blood serum def: "The amount of a cholecystokinin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cholecystokinin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040930 name: level of cerebral cavernous malformations 2 protein in blood serum def: "The amount of a cerebral cavernous malformations 2 protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cerebral cavernous malformations 2 protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040931 name: level of cyclin-A1 in blood serum def: "The amount of a cyclin-A1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cyclin-A1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040932 name: level of cyclin-A2 in blood serum def: "The amount of a cyclin-A2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cyclin-A2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040933 name: level of E3 ubiquitin-protein ligase CCNB1IP1 in blood serum def: "The amount of a E3 ubiquitin-protein ligase CCNB1IP1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 ubiquitin-protein ligase CCNB1IP1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040934 name: level of G2/mitotic-specific cyclin-B2 in blood serum def: "The amount of a G2/mitotic-specific cyclin-B2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum G2/mitotic-specific cyclin-B2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040935 name: level of cyclin-H in blood serum def: "The amount of a cyclin-H when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cyclin-H amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040936 name: level of cyclin-Y-like protein 1 in blood serum def: "The amount of a cyclin-Y-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cyclin-Y-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040937 name: level of cell cycle progression protein 1 in blood serum def: "The amount of a cell cycle progression protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cell cycle progression protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040938 name: level of cyclin-dependent kinase 20 in blood serum def: "The amount of a cyclin-dependent kinase 20 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cyclin-dependent kinase 20 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040939 name: level of T-complex protein 1 subunit alpha in blood serum def: "The amount of a T-complex protein 1 subunit alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum T-complex protein 1 subunit alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040940 name: level of cell surface glycoprotein CD200 receptor 2 in blood serum def: "The amount of a cell surface glycoprotein CD200 receptor 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cell surface glycoprotein CD200 receptor 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040941 name: level of CD2-associated protein in blood serum def: "The amount of a CD2-associated protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CD2-associated protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040942 name: level of CMRF35-like molecule 7 in blood serum def: "The amount of a CMRF35-like molecule 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CMRF35-like molecule 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040943 name: level of CMRF35-like molecule 1 in blood serum def: "The amount of a CMRF35-like molecule 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CMRF35-like molecule 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040944 name: level of CMRF35-like molecule 9 in blood serum def: "The amount of a CMRF35-like molecule 9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CMRF35-like molecule 9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040945 name: level of CD37 molecule in blood serum def: "The amount of a CD37 molecule when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CD37 molecule amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040946 name: level of CD81 molecule in blood serum def: "The amount of a CD81 molecule when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CD81 molecule amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040947 name: level of CD82 molecule in blood serum def: "The amount of a CD82 molecule when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CD82 molecule amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040948 name: level of CD9 molecule in blood serum def: "The amount of a CD9 molecule when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CD9 molecule amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040949 name: level of CD99 molecule-like protein 2 in blood serum def: "The amount of a CD99 molecule-like protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CD99 molecule-like protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040950 name: level of M-phase inducer phosphatase 1 in blood serum def: "The amount of a M-phase inducer phosphatase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum M-phase inducer phosphatase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040951 name: level of M-phase inducer phosphatase 2 in blood serum def: "The amount of a M-phase inducer phosphatase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum M-phase inducer phosphatase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040952 name: level of ubiquitin-conjugating enzyme E2 R1 in blood serum def: "The amount of a ubiquitin-conjugating enzyme E2 R1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin-conjugating enzyme E2 R1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040953 name: level of cell division control protein 42 in blood serum def: "The amount of a cell division control protein 42 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cell division control protein 42 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040954 name: level of serine/threonine-protein kinase MRCK alpha in blood serum def: "The amount of a serine/threonine-protein kinase MRCK alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine/threonine-protein kinase MRCK alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040955 name: level of Cdc42 effector protein 4 in blood serum def: "The amount of a Cdc42 effector protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Cdc42 effector protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040956 name: level of CUB domain-containing protein 1 in blood serum def: "The amount of a CUB domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CUB domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040957 name: level of cadherin-10 in blood serum def: "The amount of a cadherin-10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cadherin-10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040958 name: level of cadherin-13 in blood serum def: "The amount of a cadherin-13 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cadherin-13 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040959 name: level of cadherin-17 in blood serum def: "The amount of a cadherin-17 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cadherin-17 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040960 name: level of cadherin-20 in blood serum def: "The amount of a cadherin-20 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cadherin-20 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040961 name: level of cadherin-23 in blood serum def: "The amount of a cadherin-23 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cadherin-23 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040962 name: level of cadherin-related family member 3 in blood serum def: "The amount of a cadherin-related family member 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cadherin-related family member 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040963 name: level of cadherin-4 in blood serum def: "The amount of a cadherin-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cadherin-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040964 name: level of cadherin-7 in blood serum def: "The amount of a cadherin-7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cadherin-7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040965 name: level of cyclin-dependent kinase 2 in blood serum def: "The amount of a cyclin-dependent kinase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cyclin-dependent kinase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040966 name: level of cyclin-dependent kinase 2-associated protein 1 in blood serum def: "The amount of a cyclin-dependent kinase 2-associated protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cyclin-dependent kinase 2-associated protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040967 name: level of cyclin-dependent kinase 2-associated protein 2 in blood serum def: "The amount of a cyclin-dependent kinase 2-associated protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cyclin-dependent kinase 2-associated protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040968 name: level of CDK5 regulatory subunit-associated protein 3 in blood serum def: "The amount of a CDK5 regulatory subunit-associated protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CDK5 regulatory subunit-associated protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040969 name: level of cyclin-dependent kinase-like 2 in blood serum def: "The amount of a cyclin-dependent kinase-like 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cyclin-dependent kinase-like 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040970 name: level of cyclin-dependent kinase inhibitor 1 in blood serum def: "The amount of a cyclin-dependent kinase inhibitor 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cyclin-dependent kinase inhibitor 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040971 name: level of cyclin-dependent kinase 4 inhibitor C in blood serum def: "The amount of a cyclin-dependent kinase 4 inhibitor C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cyclin-dependent kinase 4 inhibitor C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040972 name: level of cyclin-dependent kinase 4 inhibitor D in blood serum def: "The amount of a cyclin-dependent kinase 4 inhibitor D when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cyclin-dependent kinase 4 inhibitor D amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040973 name: level of cyclin-dependent kinase inhibitor 3 in blood serum def: "The amount of a cyclin-dependent kinase inhibitor 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cyclin-dependent kinase inhibitor 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040974 name: level of corneodesmosin in blood serum def: "The amount of a corneodesmosin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum corneodesmosin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040975 name: level of homeobox protein CDX-1 in blood serum def: "The amount of a homeobox protein CDX-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum homeobox protein CDX-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040976 name: level of carcinoembryonic antigen-related cell adhesion molecule 16 in blood serum def: "The amount of a carcinoembryonic antigen-related cell adhesion molecule 16 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum carcinoembryonic antigen-related cell adhesion molecule 16 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040977 name: level of carcinoembryonic antigen-related cell adhesion molecule 19 in blood serum def: "The amount of a carcinoembryonic antigen-related cell adhesion molecule 19 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum carcinoembryonic antigen-related cell adhesion molecule 19 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040978 name: level of carcinoembryonic antigen-related cell adhesion molecule 20 in blood serum def: "The amount of a carcinoembryonic antigen-related cell adhesion molecule 20 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum carcinoembryonic antigen-related cell adhesion molecule 20 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040979 name: level of carcinoembryonic antigen-related cell adhesion molecule 21 in blood serum def: "The amount of a carcinoembryonic antigen-related cell adhesion molecule 21 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum carcinoembryonic antigen-related cell adhesion molecule 21 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040980 name: level of carcinoembryonic antigen-related cell adhesion molecule 4 in blood serum def: "The amount of a carcinoembryonic antigen-related cell adhesion molecule 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum carcinoembryonic antigen-related cell adhesion molecule 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040981 name: level of carcinoembryonic antigen-related cell adhesion molecule 7 in blood serum def: "The amount of a carcinoembryonic antigen-related cell adhesion molecule 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum carcinoembryonic antigen-related cell adhesion molecule 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040982 name: level of CCAAT/enhancer-binding protein alpha in blood serum def: "The amount of a CCAAT/enhancer-binding protein alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CCAAT/enhancer-binding protein alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040983 name: level of CCAAT/enhancer-binding protein epsilon in blood serum def: "The amount of a CCAAT/enhancer-binding protein epsilon when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CCAAT/enhancer-binding protein epsilon amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040984 name: level of CCAAT/enhancer-binding protein gamma in blood serum def: "The amount of a CCAAT/enhancer-binding protein gamma when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CCAAT/enhancer-binding protein gamma amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040985 name: level of bile salt-activated lipase in blood serum def: "The amount of a bile salt-activated lipase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum bile salt-activated lipase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040986 name: level of centromere protein V in blood serum def: "The amount of a centromere protein V when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum centromere protein V amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040987 name: level of centrosomal protein of 76 kDa in blood serum def: "The amount of a centrosomal protein of 76 kDa when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum centrosomal protein of 76 kDa amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040988 name: level of cerberus in blood serum def: "The amount of a cerberus when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cerberus amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040989 name: level of liver carboxylesterase 1 in blood serum def: "The amount of a liver carboxylesterase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum liver carboxylesterase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040990 name: level of centrin-1 in blood serum def: "The amount of a centrin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum centrin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040991 name: level of centrin-2 in blood serum def: "The amount of a centrin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum centrin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040992 name: level of centrin-3 in blood serum def: "The amount of a centrin-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum centrin-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040993 name: level of craniofacial development protein 1 in blood serum def: "The amount of a craniofacial development protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum craniofacial development protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040994 name: level of glycoprotein hormones alpha chain in blood serum def: "The amount of a glycoprotein hormones alpha chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glycoprotein hormones alpha chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040995 name: level of choriogonadotropin subunit beta in blood serum def: "The amount of a choriogonadotropin subunit beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum choriogonadotropin subunit beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040996 name: level of CGG triplet repeat-binding protein 1 in blood serum def: "The amount of a CGG triplet repeat-binding protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CGG triplet repeat-binding protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040997 name: level of cell growth regulator with EF hand domain protein 1 in blood serum def: "The amount of a cell growth regulator with EF hand domain protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cell growth regulator with EF hand domain protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040998 name: level of glutathione-specific gamma-glutamylcyclotransferase 1 in blood serum def: "The amount of a glutathione-specific gamma-glutamylcyclotransferase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutathione-specific gamma-glutamylcyclotransferase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2040999 name: level of glutathione-specific gamma-glutamylcyclotransferase 2 in blood serum def: "The amount of a glutathione-specific gamma-glutamylcyclotransferase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutathione-specific gamma-glutamylcyclotransferase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041000 name: level of chondroadherin in blood serum def: "The amount of a chondroadherin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum chondroadherin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041001 name: level of chromodomain-helicase-DNA-binding protein 1-like in blood serum def: "The amount of a chromodomain-helicase-DNA-binding protein 1-like when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum chromodomain-helicase-DNA-binding protein 1-like amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041002 name: level of chromodomain-helicase-DNA-binding protein 7 in blood serum def: "The amount of a chromodomain-helicase-DNA-binding protein 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum chromodomain-helicase-DNA-binding protein 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041003 name: level of E3 ubiquitin-protein ligase CHFR in blood serum def: "The amount of a E3 ubiquitin-protein ligase CHFR when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 ubiquitin-protein ligase CHFR amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041004 name: level of secretogranin-1 in blood serum def: "The amount of a secretogranin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum secretogranin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041005 name: level of chitinase-3-like protein 1 in blood serum def: "The amount of a chitinase-3-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum chitinase-3-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041006 name: level of chitinase-3-like protein 2 in blood serum def: "The amount of a chitinase-3-like protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum chitinase-3-like protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041007 name: level of acidic mammalian chitinase in blood serum def: "The amount of a acidic mammalian chitinase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum acidic mammalian chitinase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041008 name: level of charged multivesicular body protein 1a in blood serum def: "The amount of a charged multivesicular body protein 1a when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum charged multivesicular body protein 1a amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041009 name: level of charged multivesicular body protein 1b in blood serum def: "The amount of a charged multivesicular body protein 1b when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum charged multivesicular body protein 1b amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041010 name: level of charged multivesicular body protein 2a in blood serum def: "The amount of a charged multivesicular body protein 2a when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum charged multivesicular body protein 2a amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041011 name: level of charged multivesicular body protein 2b in blood serum def: "The amount of a charged multivesicular body protein 2b when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum charged multivesicular body protein 2b amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041012 name: level of charged multivesicular body protein 4a in blood serum def: "The amount of a charged multivesicular body protein 4a when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum charged multivesicular body protein 4a amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041013 name: level of charged multivesicular body protein 6 in blood serum def: "The amount of a charged multivesicular body protein 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum charged multivesicular body protein 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041014 name: level of N-chimaerin in blood serum def: "The amount of a N-chimaerin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum N-chimaerin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041015 name: level of calcineurin B homologous protein 1 in blood serum def: "The amount of a calcineurin B homologous protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calcineurin B homologous protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041016 name: level of chordin-like protein 2 in blood serum def: "The amount of a chordin-like protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum chordin-like protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041017 name: level of neuronal acetylcholine receptor subunit alpha-5 in blood serum def: "The amount of a neuronal acetylcholine receptor subunit alpha-5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neuronal acetylcholine receptor subunit alpha-5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041018 name: level of neuronal acetylcholine receptor subunit beta-3 in blood serum def: "The amount of a neuronal acetylcholine receptor subunit beta-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neuronal acetylcholine receptor subunit beta-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041019 name: level of carbohydrate sulfotransferase 1 in blood serum def: "The amount of a carbohydrate sulfotransferase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum carbohydrate sulfotransferase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041020 name: level of carbohydrate sulfotransferase 10 in blood serum def: "The amount of a carbohydrate sulfotransferase 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum carbohydrate sulfotransferase 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041021 name: level of carbohydrate sulfotransferase 11 in blood serum def: "The amount of a carbohydrate sulfotransferase 11 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum carbohydrate sulfotransferase 11 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041022 name: level of carbohydrate sulfotransferase 12 in blood serum def: "The amount of a carbohydrate sulfotransferase 12 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum carbohydrate sulfotransferase 12 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041023 name: level of carbohydrate sulfotransferase 14 in blood serum def: "The amount of a carbohydrate sulfotransferase 14 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum carbohydrate sulfotransferase 14 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041024 name: level of carbohydrate sulfotransferase 3 in blood serum def: "The amount of a carbohydrate sulfotransferase 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum carbohydrate sulfotransferase 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041025 name: level of carbohydrate sulfotransferase 4 in blood serum def: "The amount of a carbohydrate sulfotransferase 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum carbohydrate sulfotransferase 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041026 name: level of carbohydrate sulfotransferase 5 in blood serum def: "The amount of a carbohydrate sulfotransferase 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum carbohydrate sulfotransferase 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041027 name: level of carbohydrate sulfotransferase 9 in blood serum def: "The amount of a carbohydrate sulfotransferase 9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum carbohydrate sulfotransferase 9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041028 name: level of protein CIAO1 in blood serum def: "The amount of a protein CIAO1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein CIAO1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041029 name: level of calcium and integrin-binding protein 1 in blood serum def: "The amount of a calcium and integrin-binding protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calcium and integrin-binding protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041030 name: level of cartilage intermediate layer protein 1 in blood serum def: "The amount of a cartilage intermediate layer protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cartilage intermediate layer protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041031 name: level of cartilage intermediate layer protein 2 in blood serum def: "The amount of a cartilage intermediate layer protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cartilage intermediate layer protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041032 name: level of cyclin-dependent kinase 2-interacting protein in blood serum def: "The amount of a cyclin-dependent kinase 2-interacting protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cyclin-dependent kinase 2-interacting protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041033 name: level of cold-inducible RNA-binding protein in blood serum def: "The amount of a cold-inducible RNA-binding protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cold-inducible RNA-binding protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041034 name: level of CDGSH iron-sulfur domain-containing protein 1 in blood serum def: "The amount of a CDGSH iron-sulfur domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CDGSH iron-sulfur domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041035 name: level of CDGSH iron-sulfur domain-containing protein 2 in blood serum def: "The amount of a CDGSH iron-sulfur domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CDGSH iron-sulfur domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041036 name: level of cytoskeleton-associated protein 4 in blood serum def: "The amount of a cytoskeleton-associated protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cytoskeleton-associated protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041037 name: level of creatine kinase U-type, mitochondrial in blood serum def: "The amount of a creatine kinase U-type, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum creatine kinase U-type, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041038 name: level of creatine kinase S-type, mitochondrial in blood serum def: "The amount of a creatine kinase S-type, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum creatine kinase S-type, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041039 name: level of cyclin-dependent kinases regulatory subunit 1 in blood serum def: "The amount of a cyclin-dependent kinases regulatory subunit 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cyclin-dependent kinases regulatory subunit 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041040 name: level of calcium-activated chloride channel regulator 1 in blood serum def: "The amount of a calcium-activated chloride channel regulator 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calcium-activated chloride channel regulator 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041041 name: level of calcium-activated chloride channel regulator 2 in blood serum def: "The amount of a calcium-activated chloride channel regulator 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calcium-activated chloride channel regulator 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041042 name: level of claudin-1 in blood serum def: "The amount of a claudin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum claudin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041043 name: level of C-type lectin domain family 12 member A in blood serum def: "The amount of a C-type lectin domain family 12 member A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum C-type lectin domain family 12 member A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041044 name: level of C-type lectin domain family 2 member A in blood serum def: "The amount of a C-type lectin domain family 2 member A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum C-type lectin domain family 2 member A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041045 name: level of C-type lectin domain family 2 member D in blood serum def: "The amount of a C-type lectin domain family 2 member D when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum C-type lectin domain family 2 member D amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041046 name: level of C-type lectin domain family 4 member A in blood serum def: "The amount of a C-type lectin domain family 4 member A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum C-type lectin domain family 4 member A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041047 name: level of C-type lectin domain family 4 member D in blood serum def: "The amount of a C-type lectin domain family 4 member D when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum C-type lectin domain family 4 member D amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041048 name: level of chloride intracellular channel protein 2 in blood serum def: "The amount of a chloride intracellular channel protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum chloride intracellular channel protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041049 name: level of chloride intracellular channel protein 3 in blood serum def: "The amount of a chloride intracellular channel protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum chloride intracellular channel protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041050 name: level of chloride intracellular channel protein 4 in blood serum def: "The amount of a chloride intracellular channel protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum chloride intracellular channel protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041051 name: level of chloride intracellular channel protein 5 in blood serum def: "The amount of a chloride intracellular channel protein 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum chloride intracellular channel protein 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041052 name: level of clathrin interactor 1 in blood serum def: "The amount of a clathrin interactor 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum clathrin interactor 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041053 name: level of dual specificity protein kinase CLK2 in blood serum def: "The amount of a dual specificity protein kinase CLK2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dual specificity protein kinase CLK2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041054 name: level of cytokine-dependent hematopoietic cell linker in blood serum def: "The amount of a cytokine-dependent hematopoietic cell linker when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cytokine-dependent hematopoietic cell linker amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041055 name: level of colipase in blood serum def: "The amount of a colipase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum colipase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041056 name: level of calsyntenin-1 in blood serum def: "The amount of a calsyntenin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calsyntenin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041057 name: level of calsyntenin-2 in blood serum def: "The amount of a calsyntenin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calsyntenin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041058 name: level of calsyntenin-3 in blood serum def: "The amount of a calsyntenin-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calsyntenin-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041059 name: level of clathrin light chain A in blood serum def: "The amount of a clathrin light chain A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum clathrin light chain A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041060 name: level of clusterin-associated protein 1 in blood serum def: "The amount of a clusterin-associated protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum clusterin-associated protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041061 name: level of clusterin-like protein 1 in blood serum def: "The amount of a clusterin-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum clusterin-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041062 name: level of citramalyl-CoA lyase, mitochondrial in blood serum def: "The amount of a citramalyl-CoA lyase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum citramalyl-CoA lyase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041063 name: level of carboxymethylenebutenolidase in blood serum def: "The amount of a carboxymethylenebutenolidase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum carboxymethylenebutenolidase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041064 name: level of C-Maf-inducing protein in blood serum def: "The amount of a C-Maf-inducing protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum C-Maf-inducing protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041065 name: level of cyclic nucleotide-gated cation channel beta-1 in blood serum def: "The amount of a cyclic nucleotide-gated cation channel beta-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cyclic nucleotide-gated cation channel beta-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041066 name: level of calponin-1 in blood serum def: "The amount of a calponin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calponin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041067 name: level of calponin-2 in blood serum def: "The amount of a calponin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calponin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041068 name: level of CCR4-NOT transcription complex subunit 1 in blood serum def: "The amount of a CCR4-NOT transcription complex subunit 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CCR4-NOT transcription complex subunit 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041069 name: level of 2',3'-cyclic-nucleotide 3'-phosphodiesterase in blood serum def: "The amount of a 2',3'-cyclic-nucleotide 3'-phosphodiesterase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 2',3'-cyclic-nucleotide 3'-phosphodiesterase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041070 name: level of protein canopy homolog 3 in blood serum def: "The amount of a protein canopy homolog 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein canopy homolog 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041071 name: level of protein canopy homolog 4 in blood serum def: "The amount of a protein canopy homolog 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein canopy homolog 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041072 name: level of CB1 cannabinoid receptor-interacting protein 1 in blood serum def: "The amount of a CB1 cannabinoid receptor-interacting protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CB1 cannabinoid receptor-interacting protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041073 name: level of contactin-3 in blood serum def: "The amount of a contactin-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum contactin-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041074 name: level of contactin-6 in blood serum def: "The amount of a contactin-6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum contactin-6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041075 name: level of contactin-associated protein-like 2 in blood serum def: "The amount of a contactin-associated protein-like 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum contactin-associated protein-like 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041076 name: level of contactin-associated protein-like 5 in blood serum def: "The amount of a contactin-associated protein-like 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum contactin-associated protein-like 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041077 name: level of bifunctional coenzyme A synthase in blood serum def: "The amount of a bifunctional coenzyme A synthase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum bifunctional coenzyme A synthase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041078 name: level of cochlin in blood serum def: "The amount of a cochlin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cochlin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041079 name: level of conserved oligomeric Golgi complex subunit 8 in blood serum def: "The amount of a conserved oligomeric Golgi complex subunit 8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum conserved oligomeric Golgi complex subunit 8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041080 name: level of collagen alpha-1(X) chain in blood serum def: "The amount of a collagen alpha-1(X) chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum collagen alpha-1(X) chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041081 name: level of collagen alpha-2(XI) chain in blood serum def: "The amount of a collagen alpha-2(XI) chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum collagen alpha-2(XI) chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041082 name: level of collagen alpha-1(XIII) chain in blood serum def: "The amount of a collagen alpha-1(XIII) chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum collagen alpha-1(XIII) chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041083 name: level of collagen alpha-1(XV) chain in blood serum def: "The amount of a collagen alpha-1(XV) chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum collagen alpha-1(XV) chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041084 name: level of collagen alpha-1(XX) chain in blood serum def: "The amount of a collagen alpha-1(XX) chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum collagen alpha-1(XX) chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041085 name: level of collagen alpha-1(XXV) chain in blood serum def: "The amount of a collagen alpha-1(XXV) chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum collagen alpha-1(XXV) chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041086 name: level of collagen alpha-5(VI) chain in blood serum def: "The amount of a collagen alpha-5(VI) chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum collagen alpha-5(VI) chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041087 name: level of collagen alpha-1(IX) chain in blood serum def: "The amount of a collagen alpha-1(IX) chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum collagen alpha-1(IX) chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041088 name: level of collagen alpha-3(IX) chain in blood serum def: "The amount of a collagen alpha-3(IX) chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum collagen alpha-3(IX) chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041089 name: level of collectin-10 in blood serum def: "The amount of a collectin-10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum collectin-10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041090 name: level of COMM domain-containing protein 1 in blood serum def: "The amount of a COMM domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum COMM domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041091 name: level of COMM domain-containing protein 6 in blood serum def: "The amount of a COMM domain-containing protein 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum COMM domain-containing protein 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041092 name: level of catechol O-methyltransferase in blood serum def: "The amount of a catechol O-methyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum catechol O-methyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041093 name: level of catechol O-methyltransferase domain-containing protein 1 in blood serum def: "The amount of a catechol O-methyltransferase domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum catechol O-methyltransferase domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041094 name: level of coatomer subunit beta' in blood serum def: "The amount of a coatomer subunit beta' when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum coatomer subunit beta' amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041095 name: level of coatomer subunit epsilon in blood serum def: "The amount of a coatomer subunit epsilon when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum coatomer subunit epsilon amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041096 name: level of COP9 signalosome complex subunit 2 in blood serum def: "The amount of a COP9 signalosome complex subunit 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum COP9 signalosome complex subunit 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041097 name: level of COP9 signalosome complex subunit 5 in blood serum def: "The amount of a COP9 signalosome complex subunit 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum COP9 signalosome complex subunit 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041098 name: level of COP9 signalosome complex subunit 7b in blood serum def: "The amount of a COP9 signalosome complex subunit 7b when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum COP9 signalosome complex subunit 7b amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041099 name: level of COP9 signalosome complex subunit 8 in blood serum def: "The amount of a COP9 signalosome complex subunit 8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum COP9 signalosome complex subunit 8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041100 name: level of coenzyme Q-binding protein COQ10 homolog A, mitochondrial in blood serum def: "The amount of a coenzyme Q-binding protein COQ10 homolog A, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum coenzyme Q-binding protein COQ10 homolog A, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041101 name: level of 2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial in blood serum def: "The amount of a 2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041102 name: level of ubiquinone biosynthesis monooxygenase COQ6, mitochondrial in blood serum def: "The amount of a ubiquinone biosynthesis monooxygenase COQ6, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquinone biosynthesis monooxygenase COQ6, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041103 name: level of ubiquinone biosynthesis protein COQ7 in blood serum def: "The amount of a ubiquinone biosynthesis protein COQ7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquinone biosynthesis protein COQ7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041104 name: level of cytochrome c oxidase assembly protein COX19 in blood serum def: "The amount of a cytochrome c oxidase assembly protein COX19 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cytochrome c oxidase assembly protein COX19 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041105 name: level of cytochrome c oxidase subunit 4 isoform 2, mitochondrial in blood serum def: "The amount of a cytochrome c oxidase subunit 4 isoform 2, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cytochrome c oxidase subunit 4 isoform 2, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041106 name: level of ER membrane protein complex subunit 8 in blood serum def: "The amount of a ER membrane protein complex subunit 8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ER membrane protein complex subunit 8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041107 name: level of cytochrome c oxidase subunit 5A, mitochondrial in blood serum def: "The amount of a cytochrome c oxidase subunit 5A, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cytochrome c oxidase subunit 5A, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041108 name: level of cytochrome c oxidase subunit 5B, mitochondrial in blood serum def: "The amount of a cytochrome c oxidase subunit 5B, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cytochrome c oxidase subunit 5B, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041109 name: level of cytochrome c oxidase subunit 7A1, mitochondrial in blood serum def: "The amount of a cytochrome c oxidase subunit 7A1, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cytochrome c oxidase subunit 7A1, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041110 name: level of cytochrome c oxidase subunit 7A-related protein, mitochondrial in blood serum def: "The amount of a cytochrome c oxidase subunit 7A-related protein, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cytochrome c oxidase subunit 7A-related protein, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041112 name: level of carboxypeptidase A1 in blood serum def: "The amount of a carboxypeptidase A1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum carboxypeptidase A1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041113 name: level of carboxypeptidase A2 in blood serum def: "The amount of a carboxypeptidase A2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum carboxypeptidase A2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041114 name: level of carboxypeptidase A4 in blood serum def: "The amount of a carboxypeptidase A4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum carboxypeptidase A4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041115 name: level of carboxypeptidase B in blood serum def: "The amount of a carboxypeptidase B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum carboxypeptidase B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041116 name: level of carboxypeptidase D in blood serum def: "The amount of a carboxypeptidase D when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum carboxypeptidase D amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041117 name: level of complexin-1 in blood serum def: "The amount of a complexin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum complexin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041118 name: level of complexin-2 in blood serum def: "The amount of a complexin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum complexin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041119 name: level of complexin-3 in blood serum def: "The amount of a complexin-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum complexin-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041120 name: level of carboxypeptidase M in blood serum def: "The amount of a carboxypeptidase M when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum carboxypeptidase M amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041121 name: level of carboxypeptidase N catalytic chain in blood serum def: "The amount of a carboxypeptidase N catalytic chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum carboxypeptidase N catalytic chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041122 name: level of carboxypeptidase N subunit 2 in blood serum def: "The amount of a carboxypeptidase N subunit 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum carboxypeptidase N subunit 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041123 name: level of copine-6 in blood serum def: "The amount of a copine-6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum copine-6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041124 name: level of copine-7 in blood serum def: "The amount of a copine-7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum copine-7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041125 name: level of oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial in blood serum def: "The amount of a oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041126 name: level of carnitine O-palmitoyltransferase 1, muscle isoform in blood serum def: "The amount of a carnitine O-palmitoyltransferase 1, muscle isoform when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum carnitine O-palmitoyltransferase 1, muscle isoform amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041127 name: level of carboxypeptidase Z in blood serum def: "The amount of a carboxypeptidase Z when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum carboxypeptidase Z amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041128 name: level of death domain-containing protein CRADD in blood serum def: "The amount of a death domain-containing protein CRADD when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum death domain-containing protein CRADD amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041129 name: level of carnitine O-acetyltransferase in blood serum def: "The amount of a carnitine O-acetyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum carnitine O-acetyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041130 name: level of DNA-directed RNA polymerase III subunit RPC9 in blood serum def: "The amount of a DNA-directed RNA polymerase III subunit RPC9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA-directed RNA polymerase III subunit RPC9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041131 name: level of cyclic AMP-responsive element-binding protein 1 in blood serum def: "The amount of a cyclic AMP-responsive element-binding protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cyclic AMP-responsive element-binding protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041132 name: level of cyclic AMP-responsive element-binding protein 3-like protein 1 in blood serum def: "The amount of a cyclic AMP-responsive element-binding protein 3-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cyclic AMP-responsive element-binding protein 3-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041133 name: level of cyclic AMP-responsive element-binding protein 3-like protein 2 in blood serum def: "The amount of a cyclic AMP-responsive element-binding protein 3-like protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cyclic AMP-responsive element-binding protein 3-like protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041134 name: level of cyclic AMP-responsive element-binding protein 3-like protein 4 in blood serum def: "The amount of a cyclic AMP-responsive element-binding protein 3-like protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cyclic AMP-responsive element-binding protein 3-like protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041135 name: level of cAMP-responsive element-binding protein-like 2 in blood serum def: "The amount of a cAMP-responsive element-binding protein-like 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cAMP-responsive element-binding protein-like 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041136 name: level of CREB/ATF bZIP transcription factor in blood serum def: "The amount of a CREB/ATF bZIP transcription factor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CREB/ATF bZIP transcription factor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041137 name: level of protein CREG1 in blood serum def: "The amount of a protein CREG1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein CREG1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041138 name: level of cAMP-responsive element modulator in blood serum def: "The amount of a cAMP-responsive element modulator when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cAMP-responsive element modulator amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041139 name: level of corticoliberin in blood serum def: "The amount of a corticoliberin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum corticoliberin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041140 name: level of corticotropin-releasing factor-binding protein in blood serum def: "The amount of a corticotropin-releasing factor-binding protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum corticotropin-releasing factor-binding protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041141 name: level of cysteine-rich protein 1 in blood serum def: "The amount of a cysteine-rich protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cysteine-rich protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041142 name: level of cysteine-rich protein 2 in blood serum def: "The amount of a cysteine-rich protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cysteine-rich protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041143 name: level of cysteine-rich PDZ-binding protein in blood serum def: "The amount of a cysteine-rich PDZ-binding protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cysteine-rich PDZ-binding protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041144 name: level of cysteine-rich secretory protein 2 in blood serum def: "The amount of a cysteine-rich secretory protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cysteine-rich secretory protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041145 name: level of cysteine-rich secretory protein LCCL domain-containing 2 in blood serum def: "The amount of a cysteine-rich secretory protein LCCL domain-containing 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cysteine-rich secretory protein LCCL domain-containing 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041146 name: level of Crk-like protein in blood serum def: "The amount of a Crk-like protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Crk-like protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041147 name: level of cytokine receptor-like factor 1 in blood serum def: "The amount of a cytokine receptor-like factor 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cytokine receptor-like factor 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041148 name: level of cytokine receptor-like factor 3 in blood serum def: "The amount of a cytokine receptor-like factor 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cytokine receptor-like factor 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041149 name: level of dihydropyrimidinase-related protein 1 in blood serum def: "The amount of a dihydropyrimidinase-related protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dihydropyrimidinase-related protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041150 name: level of cornulin in blood serum def: "The amount of a cornulin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cornulin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041151 name: level of peroxisomal carnitine O-octanoyltransferase in blood serum def: "The amount of a peroxisomal carnitine O-octanoyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum peroxisomal carnitine O-octanoyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041152 name: level of cartilage acidic protein 1 in blood serum def: "The amount of a cartilage acidic protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cartilage acidic protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041153 name: level of CREB-regulated transcription coactivator 3 in blood serum def: "The amount of a CREB-regulated transcription coactivator 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CREB-regulated transcription coactivator 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041154 name: level of alpha-crystallin A chain in blood serum def: "The amount of a alpha-crystallin A chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-crystallin A chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041155 name: level of beta-crystallin B1 in blood serum def: "The amount of a beta-crystallin B1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-crystallin B1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041156 name: level of beta-crystallin B2 in blood serum def: "The amount of a beta-crystallin B2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-crystallin B2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041157 name: level of beta-crystallin B3 in blood serum def: "The amount of a beta-crystallin B3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-crystallin B3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041158 name: level of gamma-crystallin A in blood serum def: "The amount of a gamma-crystallin A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum gamma-crystallin A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041159 name: level of gamma-crystallin C in blood serum def: "The amount of a gamma-crystallin C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum gamma-crystallin C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041160 name: level of gamma-crystallin D in blood serum def: "The amount of a gamma-crystallin D when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum gamma-crystallin D amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041161 name: level of gamma-crystallin S in blood serum def: "The amount of a gamma-crystallin S when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum gamma-crystallin S amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041162 name: level of lambda-crystallin in blood serum def: "The amount of a lambda-crystallin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lambda-crystallin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041163 name: level of citrate synthase, mitochondrial in blood serum def: "The amount of a citrate synthase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum citrate synthase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041164 name: level of chondrosarcoma-associated gene 2/3A protein in blood serum def: "The amount of a chondrosarcoma-associated gene 2/3A protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum chondrosarcoma-associated gene 2/3A protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041165 name: level of cold shock domain-containing protein C2 in blood serum def: "The amount of a cold shock domain-containing protein C2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cold shock domain-containing protein C2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041166 name: level of cold shock domain-containing protein E1 in blood serum def: "The amount of a cold shock domain-containing protein E1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cold shock domain-containing protein E1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041167 name: level of chondroitin sulfate N-acetylgalactosaminyltransferase 2 in blood serum def: "The amount of a chondroitin sulfate N-acetylgalactosaminyltransferase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum chondroitin sulfate N-acetylgalactosaminyltransferase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041168 name: level of CUB and sushi domain-containing protein 1 in blood serum def: "The amount of a CUB and sushi domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CUB and sushi domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041169 name: level of casein kinase I isoform alpha-like in blood serum def: "The amount of a casein kinase I isoform alpha-like when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum casein kinase I isoform alpha-like amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041170 name: level of casein kinase I isoform delta in blood serum def: "The amount of a casein kinase I isoform delta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum casein kinase I isoform delta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041171 name: level of casein kinase I isoform gamma-1 in blood serum def: "The amount of a casein kinase I isoform gamma-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum casein kinase I isoform gamma-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041172 name: level of casein kinase I isoform gamma-2 in blood serum def: "The amount of a casein kinase I isoform gamma-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum casein kinase I isoform gamma-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041173 name: level of casein kinase II subunit beta in blood serum def: "The amount of a casein kinase II subunit beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum casein kinase II subunit beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041174 name: level of chondroitin sulfate proteoglycan 4 in blood serum def: "The amount of a chondroitin sulfate proteoglycan 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum chondroitin sulfate proteoglycan 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041175 name: level of cysteine and glycine-rich protein 2 in blood serum def: "The amount of a cysteine and glycine-rich protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cysteine and glycine-rich protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041176 name: level of cystatin-8 in blood serum def: "The amount of a cystatin-8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cystatin-8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041177 name: level of cleavage stimulation factor subunit 1 in blood serum def: "The amount of a cleavage stimulation factor subunit 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cleavage stimulation factor subunit 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041178 name: level of cystatin-like 1 in blood serum def: "The amount of a cystatin-like 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cystatin-like 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041179 name: level of cancer/testis antigen family 45 member A1 in blood serum def: "The amount of a cancer/testis antigen family 45 member A1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cancer/testis antigen family 45 member A1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041180 name: level of cancer/testis antigen family 45 member A3 in blood serum def: "The amount of a cancer/testis antigen family 45 member A3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cancer/testis antigen family 45 member A3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041181 name: level of cancer/testis antigen 1 in blood serum def: "The amount of a cancer/testis antigen 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cancer/testis antigen 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041182 name: level of transcriptional repressor CTCF in blood serum def: "The amount of a transcriptional repressor CTCF when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcriptional repressor CTCF amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041183 name: level of CTD small phosphatase-like protein in blood serum def: "The amount of a CTD small phosphatase-like protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CTD small phosphatase-like protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041184 name: level of cystathionine gamma-lyase in blood serum def: "The amount of a cystathionine gamma-lyase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cystathionine gamma-lyase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041185 name: level of collagen triple helix repeat-containing protein 1 in blood serum def: "The amount of a collagen triple helix repeat-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum collagen triple helix repeat-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041186 name: level of catenin alpha-1 in blood serum def: "The amount of a catenin alpha-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum catenin alpha-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041187 name: level of catenin alpha-2 in blood serum def: "The amount of a catenin alpha-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum catenin alpha-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041188 name: level of catenin alpha-3 in blood serum def: "The amount of a catenin alpha-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum catenin alpha-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041189 name: level of beta-catenin-interacting protein 1 in blood serum def: "The amount of a beta-catenin-interacting protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-catenin-interacting protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041190 name: level of CTP synthase 1 in blood serum def: "The amount of a CTP synthase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CTP synthase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041191 name: level of chymotrypsinogen B in blood serum def: "The amount of a chymotrypsinogen B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum chymotrypsinogen B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041192 name: level of chymotrypsinogen B2 in blood serum def: "The amount of a chymotrypsinogen B2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum chymotrypsinogen B2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041193 name: level of chymotrypsin-C in blood serum def: "The amount of a chymotrypsin-C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum chymotrypsin-C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041194 name: level of chymotrypsin-like protease CTRL-1 in blood serum def: "The amount of a chymotrypsin-like protease CTRL-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum chymotrypsin-like protease CTRL-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041195 name: level of cathepsin O in blood serum def: "The amount of a cathepsin O when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cathepsin O amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041196 name: level of cubilin in blood serum def: "The amount of a cubilin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cubilin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041197 name: level of CUGBP Elav-like family member 2 in blood serum def: "The amount of a CUGBP Elav-like family member 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CUGBP Elav-like family member 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041198 name: level of cullin-3 in blood serum def: "The amount of a cullin-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cullin-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041199 name: level of cullin-4B in blood serum def: "The amount of a cullin-4B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cullin-4B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041200 name: level of cullin-9 in blood serum def: "The amount of a cullin-9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cullin-9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041201 name: level of protein CutA in blood serum def: "The amount of a protein CutA when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein CutA amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041202 name: level of copper homeostasis protein cutC in blood serum def: "The amount of a copper homeostasis protein cutC when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum copper homeostasis protein cutC amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041203 name: level of CUB and zona pellucida-like domain-containing protein 1 in blood serum def: "The amount of a CUB and zona pellucida-like domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CUB and zona pellucida-like domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041204 name: level of CWF19-like protein 1 in blood serum def: "The amount of a CWF19-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CWF19-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041205 name: level of coxsackievirus and adenovirus receptor in blood serum def: "The amount of a coxsackievirus and adenovirus receptor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum coxsackievirus and adenovirus receptor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041206 name: level of C-X-C motif chemokine 14 in blood serum def: "The amount of a C-X-C motif chemokine 14 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum C-X-C motif chemokine 14 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041207 name: level of C-X-C motif chemokine 2 in blood serum def: "The amount of a C-X-C motif chemokine 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum C-X-C motif chemokine 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041208 name: level of C-X-C motif chemokine 3 in blood serum def: "The amount of a C-X-C motif chemokine 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum C-X-C motif chemokine 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041209 name: level of cytochrome b5 in blood serum def: "The amount of a cytochrome b5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cytochrome b5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041210 name: level of NADH-cytochrome b5 reductase 1 in blood serum def: "The amount of a NADH-cytochrome b5 reductase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NADH-cytochrome b5 reductase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041211 name: level of NADH-cytochrome b5 reductase 2 in blood serum def: "The amount of a NADH-cytochrome b5 reductase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NADH-cytochrome b5 reductase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041212 name: level of NADH-cytochrome b5 reductase 3 in blood serum def: "The amount of a NADH-cytochrome b5 reductase 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NADH-cytochrome b5 reductase 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041213 name: level of cytochrome b5 reductase 4 in blood serum def: "The amount of a cytochrome b5 reductase 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cytochrome b5 reductase 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041214 name: level of cytoglobin in blood serum def: "The amount of a cytoglobin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cytoglobin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041215 name: level of cytochrome P450 2C19 in blood serum def: "The amount of a cytochrome P450 2C19 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cytochrome P450 2C19 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041216 name: level of CCN family member 1 in blood serum def: "The amount of a CCN family member 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CCN family member 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041217 name: level of cytohesin-1 in blood serum def: "The amount of a cytohesin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cytohesin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041218 name: level of cytohesin-2 in blood serum def: "The amount of a cytohesin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cytohesin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041219 name: level of cytohesin-3 in blood serum def: "The amount of a cytohesin-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cytohesin-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041220 name: level of cytohesin-4 in blood serum def: "The amount of a cytohesin-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cytohesin-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041221 name: level of cytohesin-interacting protein in blood serum def: "The amount of a cytohesin-interacting protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cytohesin-interacting protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041222 name: level of glutamine amidotransferase-like class 1 domain-containing protein 3, mitochondrial in blood serum def: "The amount of a glutamine amidotransferase-like class 1 domain-containing protein 3, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutamine amidotransferase-like class 1 domain-containing protein 3, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041223 name: level of leydig cell tumor 10 kDa protein in blood serum def: "The amount of a leydig cell tumor 10 kDa protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leydig cell tumor 10 kDa protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041224 name: level of disabled homolog 2 in blood serum def: "The amount of a disabled homolog 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum disabled homolog 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041225 name: level of dystroglycan 1 in blood serum def: "The amount of a dystroglycan 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dystroglycan 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041226 name: level of triokinase/FMN cyclase in blood serum def: "The amount of a triokinase/FMN cyclase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum triokinase/FMN cyclase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041227 name: level of D-amino-acid oxidase in blood serum def: "The amount of a D-amino-acid oxidase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum D-amino-acid oxidase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041228 name: level of death-associated protein 1 in blood serum def: "The amount of a death-associated protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum death-associated protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041229 name: level of death-associated protein kinase 1 in blood serum def: "The amount of a death-associated protein kinase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum death-associated protein kinase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041230 name: level of death-associated protein kinase 3 in blood serum def: "The amount of a death-associated protein kinase 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum death-associated protein kinase 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041231 name: level of aspartate--tRNA ligase, cytoplasmic in blood serum def: "The amount of a aspartate--tRNA ligase, cytoplasmic when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum aspartate--tRNA ligase, cytoplasmic amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041232 name: level of aspartate--tRNA ligase, mitochondrial in blood serum def: "The amount of a aspartate--tRNA ligase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum aspartate--tRNA ligase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041233 name: level of death domain-associated protein 6 in blood serum def: "The amount of a death domain-associated protein 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum death domain-associated protein 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041234 name: level of DAZ-associated protein 1 in blood serum def: "The amount of a DAZ-associated protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DAZ-associated protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041235 name: level of acyl-CoA-binding protein in blood serum def: "The amount of a acyl-CoA-binding protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum acyl-CoA-binding protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041236 name: level of lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial in blood serum def: "The amount of a lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041237 name: level of netrin receptor DCC in blood serum def: "The amount of a netrin receptor DCC when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum netrin receptor DCC amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041238 name: level of enoyl-CoA Delta isomerase 1, mitochondrial in blood serum def: "The amount of a enoyl-CoA Delta isomerase 1, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum enoyl-CoA Delta isomerase 1, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041239 name: level of deoxycytidine kinase in blood serum def: "The amount of a deoxycytidine kinase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum deoxycytidine kinase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041240 name: level of serine/threonine-protein kinase DCLK1 in blood serum def: "The amount of a serine/threonine-protein kinase DCLK1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine/threonine-protein kinase DCLK1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041241 name: level of serine/threonine-protein kinase DCLK3 in blood serum def: "The amount of a serine/threonine-protein kinase DCLK3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine/threonine-protein kinase DCLK3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041242 name: level of mRNA-decapping enzyme 1A in blood serum def: "The amount of a mRNA-decapping enzyme 1A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mRNA-decapping enzyme 1A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041243 name: level of scavenger mRNA-decapping enzyme DcpS in blood serum def: "The amount of a scavenger mRNA-decapping enzyme DcpS when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum scavenger mRNA-decapping enzyme DcpS amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041244 name: level of L-dopachrome tautomerase in blood serum def: "The amount of a L-dopachrome tautomerase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum L-dopachrome tautomerase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041245 name: level of deoxycytidylate deaminase in blood serum def: "The amount of a deoxycytidylate deaminase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum deoxycytidylate deaminase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041246 name: level of DCN1-like protein 1 in blood serum def: "The amount of a DCN1-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DCN1-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041247 name: level of DCN1-like protein 2 in blood serum def: "The amount of a DCN1-like protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DCN1-like protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041248 name: level of DCN1-like protein 3 in blood serum def: "The amount of a DCN1-like protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DCN1-like protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041249 name: level of DCN1-like protein 5 in blood serum def: "The amount of a DCN1-like protein 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DCN1-like protein 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041250 name: level of L-xylulose reductase in blood serum def: "The amount of a L-xylulose reductase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum L-xylulose reductase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041251 name: level of N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 in blood serum def: "The amount of a N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041252 name: level of phospholipase DDHD2 in blood serum def: "The amount of a phospholipase DDHD2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phospholipase DDHD2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041253 name: level of protein DDI1 homolog 2 in blood serum def: "The amount of a protein DDI1 homolog 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein DDI1 homolog 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041254 name: level of DNA damage-inducible transcript 3 protein in blood serum def: "The amount of a DNA damage-inducible transcript 3 protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA damage-inducible transcript 3 protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041255 name: level of DNA damage-inducible transcript 4 protein in blood serum def: "The amount of a DNA damage-inducible transcript 4 protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA damage-inducible transcript 4 protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041256 name: level of dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit in blood serum def: "The amount of a dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041257 name: level of D-dopachrome decarboxylase in blood serum def: "The amount of a D-dopachrome decarboxylase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum D-dopachrome decarboxylase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041258 name: level of ATP-dependent RNA helicase DDX1 in blood serum def: "The amount of a ATP-dependent RNA helicase DDX1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ATP-dependent RNA helicase DDX1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041259 name: level of ATP-dependent RNA helicase DDX19A in blood serum def: "The amount of a ATP-dependent RNA helicase DDX19A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ATP-dependent RNA helicase DDX19A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041260 name: level of ATP-dependent RNA helicase DDX25 in blood serum def: "The amount of a ATP-dependent RNA helicase DDX25 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ATP-dependent RNA helicase DDX25 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041261 name: level of deformed epidermal autoregulatory factor 1 in blood serum def: "The amount of a deformed epidermal autoregulatory factor 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum deformed epidermal autoregulatory factor 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041262 name: level of 2,4-dienoyl-CoA reductase [(3E)-enoyl-CoA-producing], mitochondrial in blood serum def: "The amount of a 2,4-dienoyl-CoA reductase [(3E)-enoyl-CoA-producing], mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 2,4-dienoyl-CoA reductase [(3E)-enoyl-CoA-producing], mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041263 name: level of peroxisomal 2,4-dienoyl-CoA reductase [(3E)-enoyl-CoA-producing] in blood serum def: "The amount of a peroxisomal 2,4-dienoyl-CoA reductase [(3E)-enoyl-CoA-producing] when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum peroxisomal 2,4-dienoyl-CoA reductase [(3E)-enoyl-CoA-producing] amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041264 name: level of differentially expressed in FDCP 6 in blood serum def: "The amount of a differentially expressed in FDCP 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum differentially expressed in FDCP 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041265 name: level of beta-defensin 1 in blood serum def: "The amount of a beta-defensin 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-defensin 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041266 name: level of beta-defensin 103 in blood serum def: "The amount of a beta-defensin 103 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-defensin 103 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041267 name: level of beta-defensin 104 in blood serum def: "The amount of a beta-defensin 104 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-defensin 104 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041268 name: level of beta-defensin 106 in blood serum def: "The amount of a beta-defensin 106 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-defensin 106 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041269 name: level of beta-defensin 107 in blood serum def: "The amount of a beta-defensin 107 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-defensin 107 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041270 name: level of beta-defensin 108B in blood serum def: "The amount of a beta-defensin 108B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-defensin 108B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041271 name: level of beta-defensin 110 in blood serum def: "The amount of a beta-defensin 110 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-defensin 110 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041272 name: level of beta-defensin 112 in blood serum def: "The amount of a beta-defensin 112 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-defensin 112 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041273 name: level of beta-defensin 113 in blood serum def: "The amount of a beta-defensin 113 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-defensin 113 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041274 name: level of beta-defensin 115 in blood serum def: "The amount of a beta-defensin 115 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-defensin 115 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041275 name: level of beta-defensin 116 in blood serum def: "The amount of a beta-defensin 116 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-defensin 116 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041276 name: level of defensin beta 118 in blood serum def: "The amount of a defensin beta 118 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum defensin beta 118 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041277 name: level of beta-defensin 119 in blood serum def: "The amount of a beta-defensin 119 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-defensin 119 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041278 name: level of beta-defensin 121 in blood serum def: "The amount of a beta-defensin 121 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-defensin 121 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041279 name: level of beta-defensin 125 in blood serum def: "The amount of a beta-defensin 125 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-defensin 125 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041280 name: level of beta-defensin 127 in blood serum def: "The amount of a beta-defensin 127 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-defensin 127 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041281 name: level of beta-defensin 128 in blood serum def: "The amount of a beta-defensin 128 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-defensin 128 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041282 name: level of beta-defensin 129 in blood serum def: "The amount of a beta-defensin 129 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-defensin 129 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041283 name: level of beta-defensin 132 in blood serum def: "The amount of a beta-defensin 132 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-defensin 132 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041284 name: level of beta-defensin 135 in blood serum def: "The amount of a beta-defensin 135 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-defensin 135 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041285 name: level of defensin beta 136 in blood serum def: "The amount of a defensin beta 136 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum defensin beta 136 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041286 name: level of density-regulated protein in blood serum def: "The amount of a density-regulated protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum density-regulated protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041287 name: level of protein DEPP1 in blood serum def: "The amount of a protein DEPP1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein DEPP1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041288 name: level of derlin-1 in blood serum def: "The amount of a derlin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum derlin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041289 name: level of desmin in blood serum def: "The amount of a desmin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum desmin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041290 name: level of splicing factor ESS-2 homolog in blood serum def: "The amount of a splicing factor ESS-2 homolog when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum splicing factor ESS-2 homolog amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041291 name: level of integral membrane protein DGCR2/IDD in blood serum def: "The amount of a integral membrane protein DGCR2/IDD when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum integral membrane protein DGCR2/IDD amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041292 name: level of protein DGCR6 in blood serum def: "The amount of a protein DGCR6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein DGCR6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041293 name: level of diacylglycerol kinase beta in blood serum def: "The amount of a diacylglycerol kinase beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum diacylglycerol kinase beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041294 name: level of dihydroorotate dehydrogenase (quinone), mitochondrial in blood serum def: "The amount of a dihydroorotate dehydrogenase (quinone), mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dihydroorotate dehydrogenase (quinone), mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041295 name: level of short-chain dehydrogenase/reductase 3 in blood serum def: "The amount of a short-chain dehydrogenase/reductase 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum short-chain dehydrogenase/reductase 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041296 name: level of dehydrogenase/reductase SDR family member 4 in blood serum def: "The amount of a dehydrogenase/reductase SDR family member 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dehydrogenase/reductase SDR family member 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041297 name: level of dehydrogenase/reductase SDR family member 9 in blood serum def: "The amount of a dehydrogenase/reductase SDR family member 9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dehydrogenase/reductase SDR family member 9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041298 name: level of pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 in blood serum def: "The amount of a pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041299 name: level of ATP-dependent RNA helicase DHX8 in blood serum def: "The amount of a ATP-dependent RNA helicase DHX8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ATP-dependent RNA helicase DHX8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041300 name: level of ATP-dependent RNA helicase A in blood serum def: "The amount of a ATP-dependent RNA helicase A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ATP-dependent RNA helicase A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041301 name: level of protein diaphanous homolog 1 in blood serum def: "The amount of a protein diaphanous homolog 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein diaphanous homolog 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041302 name: level of death-inducer obliterator 1 in blood serum def: "The amount of a death-inducer obliterator 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum death-inducer obliterator 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041303 name: level of GTP-binding protein Di-Ras1 in blood serum def: "The amount of a GTP-binding protein Di-Ras1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum GTP-binding protein Di-Ras1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041304 name: level of GTP-binding protein Di-Ras3 in blood serum def: "The amount of a GTP-binding protein Di-Ras3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum GTP-binding protein Di-Ras3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041305 name: level of dixin in blood serum def: "The amount of a dixin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dixin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041306 name: level of dickkopf-related protein 2 in blood serum def: "The amount of a dickkopf-related protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dickkopf-related protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041307 name: level of dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial in blood serum def: "The amount of a dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041308 name: level of dihydrolipoyl dehydrogenase, mitochondrial in blood serum def: "The amount of a dihydrolipoyl dehydrogenase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dihydrolipoyl dehydrogenase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041309 name: level of disks large homolog 2 in blood serum def: "The amount of a disks large homolog 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum disks large homolog 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041310 name: level of disks large homolog 3 in blood serum def: "The amount of a disks large homolog 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum disks large homolog 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041311 name: level of disks large homolog 4 in blood serum def: "The amount of a disks large homolog 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum disks large homolog 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041312 name: level of disks large-associated protein 4 in blood serum def: "The amount of a disks large-associated protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum disks large-associated protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041313 name: level of protein delta homolog 1 in blood serum def: "The amount of a protein delta homolog 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein delta homolog 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041314 name: level of protein delta homolog 2 in blood serum def: "The amount of a protein delta homolog 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein delta homolog 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041315 name: level of delta-like protein 3 in blood serum def: "The amount of a delta-like protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum delta-like protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041316 name: level of dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial in blood serum def: "The amount of a dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041317 name: level of homeobox protein DLX-2 in blood serum def: "The amount of a homeobox protein DLX-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum homeobox protein DLX-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041318 name: level of homeobox protein DLX-3 in blood serum def: "The amount of a homeobox protein DLX-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum homeobox protein DLX-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041319 name: level of homeobox protein DLX-4 in blood serum def: "The amount of a homeobox protein DLX-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum homeobox protein DLX-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041320 name: level of deleted in malignant brain tumors 1 protein in blood serum def: "The amount of a deleted in malignant brain tumors 1 protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum deleted in malignant brain tumors 1 protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041321 name: level of meiotic recombination protein DMC1/LIM15 in blood serum def: "The amount of a meiotic recombination protein DMC1/LIM15 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum meiotic recombination protein DMC1/LIM15 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041322 name: level of dermokine in blood serum def: "The amount of a dermokine when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dermokine amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041323 name: level of doublesex- and mab-3-related transcription factor B1 in blood serum def: "The amount of a doublesex- and mab-3-related transcription factor B1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum doublesex- and mab-3-related transcription factor B1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041324 name: level of doublesex- and mab-3-related transcription factor C2 in blood serum def: "The amount of a doublesex- and mab-3-related transcription factor C2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum doublesex- and mab-3-related transcription factor C2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041325 name: level of dynein axonemal intermediate chain 1 in blood serum def: "The amount of a dynein axonemal intermediate chain 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dynein axonemal intermediate chain 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041326 name: level of DnaJ homolog subfamily A member 2 in blood serum def: "The amount of a DnaJ homolog subfamily A member 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DnaJ homolog subfamily A member 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041327 name: level of DnaJ homolog subfamily B member 13 in blood serum def: "The amount of a DnaJ homolog subfamily B member 13 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DnaJ homolog subfamily B member 13 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041328 name: level of DnaJ homolog subfamily B member 6 in blood serum def: "The amount of a DnaJ homolog subfamily B member 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DnaJ homolog subfamily B member 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041329 name: level of DnaJ homolog subfamily B member 9 in blood serum def: "The amount of a DnaJ homolog subfamily B member 9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DnaJ homolog subfamily B member 9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041330 name: level of DnaJ homolog subfamily C member 1 in blood serum def: "The amount of a DnaJ homolog subfamily C member 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DnaJ homolog subfamily C member 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041331 name: level of DnaJ homolog subfamily C member 10 in blood serum def: "The amount of a DnaJ homolog subfamily C member 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DnaJ homolog subfamily C member 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041332 name: level of axonemal dynein light intermediate polypeptide 1 in blood serum def: "The amount of a axonemal dynein light intermediate polypeptide 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum axonemal dynein light intermediate polypeptide 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041333 name: level of deoxyribonuclease-2-beta in blood serum def: "The amount of a deoxyribonuclease-2-beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum deoxyribonuclease-2-beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041334 name: level of dynamin-1 in blood serum def: "The amount of a dynamin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dynamin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041335 name: level of dynamin-1-like protein in blood serum def: "The amount of a dynamin-1-like protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dynamin-1-like protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041336 name: level of dynamin-2 in blood serum def: "The amount of a dynamin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dynamin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041337 name: level of DNA (cytosine-5)-methyltransferase 3-like in blood serum def: "The amount of a DNA (cytosine-5)-methyltransferase 3-like when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA (cytosine-5)-methyltransferase 3-like amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041338 name: level of aspartyl aminopeptidase in blood serum def: "The amount of a aspartyl aminopeptidase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum aspartyl aminopeptidase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041339 name: level of double C2-like domain-containing protein beta in blood serum def: "The amount of a double C2-like domain-containing protein beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum double C2-like domain-containing protein beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041340 name: level of dedicator of cytokinesis protein 2 in blood serum def: "The amount of a dedicator of cytokinesis protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dedicator of cytokinesis protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041341 name: level of dedicator of cytokinesis protein 9 in blood serum def: "The amount of a dedicator of cytokinesis protein 9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dedicator of cytokinesis protein 9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041342 name: level of deoxyhypusine hydroxylase in blood serum def: "The amount of a deoxyhypusine hydroxylase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum deoxyhypusine hydroxylase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041343 name: level of docking protein 1 in blood serum def: "The amount of a docking protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum docking protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041344 name: level of docking protein 2 in blood serum def: "The amount of a docking protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum docking protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041345 name: level of voltage-dependent calcium channel beta subunit-associated regulatory protein in blood serum def: "The amount of a voltage-dependent calcium channel beta subunit-associated regulatory protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum voltage-dependent calcium channel beta subunit-associated regulatory protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041346 name: level of histone-lysine N-methyltransferase, H3 lysine-79 specific in blood serum def: "The amount of a histone-lysine N-methyltransferase, H3 lysine-79 specific when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum histone-lysine N-methyltransferase, H3 lysine-79 specific amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041347 name: level of protein DPCD in blood serum def: "The amount of a protein DPCD when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein DPCD amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041348 name: level of dipeptidase 1 in blood serum def: "The amount of a dipeptidase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dipeptidase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041349 name: level of dipeptidase 2 in blood serum def: "The amount of a dipeptidase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dipeptidase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041350 name: level of 2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 in blood serum def: "The amount of a 2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041351 name: level of diphthine methyl ester synthase in blood serum def: "The amount of a diphthine methyl ester synthase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum diphthine methyl ester synthase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041352 name: level of inactive dipeptidyl peptidase 10 in blood serum def: "The amount of a inactive dipeptidyl peptidase 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum inactive dipeptidyl peptidase 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041353 name: level of dipeptidyl aminopeptidase-like protein 6 in blood serum def: "The amount of a dipeptidyl aminopeptidase-like protein 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dipeptidyl aminopeptidase-like protein 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041354 name: level of developmental pluripotency-associated protein 4 in blood serum def: "The amount of a developmental pluripotency-associated protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum developmental pluripotency-associated protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041355 name: level of protein dpy-30 in blood serum def: "The amount of a protein dpy-30 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein dpy-30 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041356 name: level of dihydropyrimidinase in blood serum def: "The amount of a dihydropyrimidinase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dihydropyrimidinase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041357 name: level of dihydropyrimidinase-related protein 2 in blood serum def: "The amount of a dihydropyrimidinase-related protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dihydropyrimidinase-related protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041358 name: level of dihydropyrimidinase-related protein 3 in blood serum def: "The amount of a dihydropyrimidinase-related protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dihydropyrimidinase-related protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041359 name: level of dihydropyrimidinase-related protein 4 in blood serum def: "The amount of a dihydropyrimidinase-related protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dihydropyrimidinase-related protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041360 name: level of dihydropyrimidinase-related protein 5 in blood serum def: "The amount of a dihydropyrimidinase-related protein 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dihydropyrimidinase-related protein 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041361 name: level of protein Dr1 in blood serum def: "The amount of a protein Dr1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein Dr1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041362 name: level of Dr1-associated corepressor in blood serum def: "The amount of a Dr1-associated corepressor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Dr1-associated corepressor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041363 name: level of developmentally-regulated GTP-binding protein 1 in blood serum def: "The amount of a developmentally-regulated GTP-binding protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum developmentally-regulated GTP-binding protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041364 name: level of dorsal root ganglia homeobox protein in blood serum def: "The amount of a dorsal root ganglia homeobox protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dorsal root ganglia homeobox protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041365 name: level of desmocollin-1 in blood serum def: "The amount of a desmocollin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum desmocollin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041366 name: level of cell adhesion molecule DSCAML1 in blood serum def: "The amount of a cell adhesion molecule DSCAML1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cell adhesion molecule DSCAML1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041367 name: level of sister chromatid cohesion protein DCC1 in blood serum def: "The amount of a sister chromatid cohesion protein DCC1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sister chromatid cohesion protein DCC1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041368 name: level of protein ripply3 in blood serum def: "The amount of a protein ripply3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein ripply3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041369 name: level of desmoglein-3 in blood serum def: "The amount of a desmoglein-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum desmoglein-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041370 name: level of desmoglein-4 in blood serum def: "The amount of a desmoglein-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum desmoglein-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041371 name: level of destrin in blood serum def: "The amount of a destrin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum destrin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041372 name: level of D-aminoacyl-tRNA deacylase 1 in blood serum def: "The amount of a D-aminoacyl-tRNA deacylase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum D-aminoacyl-tRNA deacylase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041373 name: level of dystrobrevin alpha in blood serum def: "The amount of a dystrobrevin alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dystrobrevin alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041374 name: level of dysbindin in blood serum def: "The amount of a dysbindin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dysbindin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041375 name: level of E3 ubiquitin-protein ligase DTX1 in blood serum def: "The amount of a E3 ubiquitin-protein ligase DTX1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 ubiquitin-protein ligase DTX1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041376 name: level of E3 ubiquitin-protein ligase DTX3L in blood serum def: "The amount of a E3 ubiquitin-protein ligase DTX3L when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 ubiquitin-protein ligase DTX3L amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041377 name: level of thymidylate kinase in blood serum def: "The amount of a thymidylate kinase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum thymidylate kinase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041378 name: level of dual specificity phosphatase 29 in blood serum def: "The amount of a dual specificity phosphatase 29 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dual specificity phosphatase 29 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041379 name: level of dual specificity protein phosphatase 10 in blood serum def: "The amount of a dual specificity protein phosphatase 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dual specificity protein phosphatase 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041380 name: level of dual specificity protein phosphatase 15 in blood serum def: "The amount of a dual specificity protein phosphatase 15 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dual specificity protein phosphatase 15 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041381 name: level of dual specificity protein phosphatase 16 in blood serum def: "The amount of a dual specificity protein phosphatase 16 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dual specificity protein phosphatase 16 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041382 name: level of dual specificity protein phosphatase 18 in blood serum def: "The amount of a dual specificity protein phosphatase 18 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dual specificity protein phosphatase 18 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041383 name: level of dual specificity protein phosphatase 19 in blood serum def: "The amount of a dual specificity protein phosphatase 19 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dual specificity protein phosphatase 19 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041384 name: level of dual specificity protein phosphatase 21 in blood serum def: "The amount of a dual specificity protein phosphatase 21 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dual specificity protein phosphatase 21 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041385 name: level of dual specificity protein phosphatase 23 in blood serum def: "The amount of a dual specificity protein phosphatase 23 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dual specificity protein phosphatase 23 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041386 name: level of dual specificity protein phosphatase 26 in blood serum def: "The amount of a dual specificity protein phosphatase 26 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dual specificity protein phosphatase 26 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041387 name: level of dual specificity phosphatase 28 in blood serum def: "The amount of a dual specificity phosphatase 28 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dual specificity phosphatase 28 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041388 name: level of dual specificity protein phosphatase 4 in blood serum def: "The amount of a dual specificity protein phosphatase 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dual specificity protein phosphatase 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041389 name: level of dual specificity protein phosphatase 6 in blood serum def: "The amount of a dual specificity protein phosphatase 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dual specificity protein phosphatase 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041390 name: level of deoxyuridine 5'-triphosphate nucleotidohydrolase, mitochondrial in blood serum def: "The amount of a deoxyuridine 5'-triphosphate nucleotidohydrolase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum deoxyuridine 5'-triphosphate nucleotidohydrolase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041391 name: level of segment polarity protein dishevelled homolog DVL-2 in blood serum def: "The amount of a segment polarity protein dishevelled homolog DVL-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum segment polarity protein dishevelled homolog DVL-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041392 name: level of cytoplasmic dynein 1 light intermediate chain 1 in blood serum def: "The amount of a cytoplasmic dynein 1 light intermediate chain 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cytoplasmic dynein 1 light intermediate chain 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041393 name: level of cytoplasmic dynein 1 light intermediate chain 2 in blood serum def: "The amount of a cytoplasmic dynein 1 light intermediate chain 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cytoplasmic dynein 1 light intermediate chain 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041394 name: level of dynein light chain roadblock-type 2 in blood serum def: "The amount of a dynein light chain roadblock-type 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dynein light chain roadblock-type 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041395 name: level of dynein light chain Tctex-type 1 in blood serum def: "The amount of a dynein light chain Tctex-type 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dynein light chain Tctex-type 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041396 name: level of dynein light chain Tctex-type 3 in blood serum def: "The amount of a dynein light chain Tctex-type 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dynein light chain Tctex-type 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041397 name: level of dual specificity tyrosine-phosphorylation-regulated kinase 1A in blood serum def: "The amount of a dual specificity tyrosine-phosphorylation-regulated kinase 1A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dual specificity tyrosine-phosphorylation-regulated kinase 1A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041398 name: level of dual specificity tyrosine-phosphorylation-regulated kinase 2 in blood serum def: "The amount of a dual specificity tyrosine-phosphorylation-regulated kinase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dual specificity tyrosine-phosphorylation-regulated kinase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041399 name: level of dysferlin-interacting protein 1 in blood serum def: "The amount of a dysferlin-interacting protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dysferlin-interacting protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041400 name: level of dystrotelin in blood serum def: "The amount of a dystrotelin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dystrotelin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041401 name: level of dihydrofolate reductase in blood serum def: "The amount of a dihydrofolate reductase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dihydrofolate reductase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041402 name: level of DnaJ homolog subfamily B member 3 in blood serum def: "The amount of a DnaJ homolog subfamily B member 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DnaJ homolog subfamily B member 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041403 name: level of transcription factor E2F5 in blood serum def: "The amount of a transcription factor E2F5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription factor E2F5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041404 name: level of receptor-binding cancer antigen expressed on SiSo cells in blood serum def: "The amount of a receptor-binding cancer antigen expressed on SiSo cells when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum receptor-binding cancer antigen expressed on SiSo cells amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041405 name: level of endothelin-converting enzyme-like 1 in blood serum def: "The amount of a endothelin-converting enzyme-like 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum endothelin-converting enzyme-like 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041406 name: level of Delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial in blood serum def: "The amount of a Delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041407 name: level of enoyl-CoA hydratase, mitochondrial in blood serum def: "The amount of a enoyl-CoA hydratase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum enoyl-CoA hydratase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041408 name: level of vesicular, overexpressed in cancer, prosurvival protein 1 in blood serum def: "The amount of a vesicular, overexpressed in cancer, prosurvival protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum vesicular, overexpressed in cancer, prosurvival protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041409 name: level of enhancer of mRNA-decapping protein 4 in blood serum def: "The amount of a enhancer of mRNA-decapping protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum enhancer of mRNA-decapping protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041410 name: level of ER degradation-enhancing alpha-mannosidase-like protein 2 in blood serum def: "The amount of a ER degradation-enhancing alpha-mannosidase-like protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ER degradation-enhancing alpha-mannosidase-like protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041411 name: level of endothelial differentiation-related factor 1 in blood serum def: "The amount of a endothelial differentiation-related factor 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum endothelial differentiation-related factor 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041412 name: level of EGF-like repeat and discoidin I-like domain-containing protein 3 in blood serum def: "The amount of a EGF-like repeat and discoidin I-like domain-containing protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum EGF-like repeat and discoidin I-like domain-containing protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041413 name: level of endothelin-1 in blood serum def: "The amount of a endothelin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum endothelin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041414 name: level of endothelin-2 in blood serum def: "The amount of a endothelin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum endothelin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041415 name: level of endothelin-3 in blood serum def: "The amount of a endothelin-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum endothelin-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041416 name: level of early endosome antigen 1 in blood serum def: "The amount of a early endosome antigen 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum early endosome antigen 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041417 name: level of polycomb protein EED in blood serum def: "The amount of a polycomb protein EED when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum polycomb protein EED amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041418 name: level of elongation factor 1-alpha 1 in blood serum def: "The amount of a elongation factor 1-alpha 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum elongation factor 1-alpha 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041419 name: level of elongation factor 1-delta in blood serum def: "The amount of a elongation factor 1-delta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum elongation factor 1-delta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041420 name: level of eukaryotic translation elongation factor 1 epsilon-1 in blood serum def: "The amount of a eukaryotic translation elongation factor 1 epsilon-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum eukaryotic translation elongation factor 1 epsilon-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041421 name: level of elongation factor 1-gamma in blood serum def: "The amount of a elongation factor 1-gamma when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum elongation factor 1-gamma amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041422 name: level of ephrin-A1 in blood serum def: "The amount of a ephrin-A1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ephrin-A1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041423 name: level of embryonal Fyn-associated substrate in blood serum def: "The amount of a embryonal Fyn-associated substrate when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum embryonal Fyn-associated substrate amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041424 name: level of protein eyes shut in blood serum def: "The amount of a protein eyes shut when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein eyes shut amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041425 name: level of epidermal growth factor-like protein 6 in blood serum def: "The amount of a epidermal growth factor-like protein 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum epidermal growth factor-like protein 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041426 name: level of pikachurin in blood serum def: "The amount of a pikachurin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pikachurin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041427 name: level of epidermal growth factor receptor in blood serum def: "The amount of a epidermal growth factor receptor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum epidermal growth factor receptor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount relationship: characteristic_of PR:000006933 ! epidermal growth factor receptor [Term] id: OBA:2041428 name: level of egl nine homolog 1 in blood serum def: "The amount of a egl nine homolog 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum egl nine homolog 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041429 name: level of prolyl hydroxylase EGLN2 in blood serum def: "The amount of a prolyl hydroxylase EGLN2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum prolyl hydroxylase EGLN2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041430 name: level of prolyl hydroxylase EGLN3 in blood serum def: "The amount of a prolyl hydroxylase EGLN3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum prolyl hydroxylase EGLN3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041431 name: level of EH domain-binding protein 1 in blood serum def: "The amount of a EH domain-binding protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum EH domain-binding protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041432 name: level of EH domain-containing protein 1 in blood serum def: "The amount of a EH domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum EH domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041433 name: level of EH domain-containing protein 2 in blood serum def: "The amount of a EH domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum EH domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041434 name: level of EH domain-containing protein 3 in blood serum def: "The amount of a EH domain-containing protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum EH domain-containing protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041435 name: level of EH domain-containing protein 4 in blood serum def: "The amount of a EH domain-containing protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum EH domain-containing protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041436 name: level of ETS homologous factor in blood serum def: "The amount of a ETS homologous factor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ETS homologous factor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041437 name: level of EP300-interacting inhibitor of differentiation 3 in blood serum def: "The amount of a EP300-interacting inhibitor of differentiation 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum EP300-interacting inhibitor of differentiation 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041438 name: level of eukaryotic translation initiation factor 1 in blood serum def: "The amount of a eukaryotic translation initiation factor 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum eukaryotic translation initiation factor 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041439 name: level of eukaryotic translation initiation factor 2A in blood serum def: "The amount of a eukaryotic translation initiation factor 2A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum eukaryotic translation initiation factor 2A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041440 name: level of translation initiation factor eIF-2B subunit alpha in blood serum def: "The amount of a translation initiation factor eIF-2B subunit alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum translation initiation factor eIF-2B subunit alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041441 name: level of protein argonaute-1 in blood serum def: "The amount of a protein argonaute-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein argonaute-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041442 name: level of protein argonaute-2 in blood serum def: "The amount of a protein argonaute-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein argonaute-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041443 name: level of protein argonaute-3 in blood serum def: "The amount of a protein argonaute-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein argonaute-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041444 name: level of eukaryotic translation initiation factor 2 subunit 1 in blood serum def: "The amount of a eukaryotic translation initiation factor 2 subunit 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum eukaryotic translation initiation factor 2 subunit 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041445 name: level of eukaryotic translation initiation factor 2 subunit 2 in blood serum def: "The amount of a eukaryotic translation initiation factor 2 subunit 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum eukaryotic translation initiation factor 2 subunit 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041446 name: level of eukaryotic translation initiation factor 3 subunit B in blood serum def: "The amount of a eukaryotic translation initiation factor 3 subunit B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum eukaryotic translation initiation factor 3 subunit B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041447 name: level of eukaryotic translation initiation factor 3 subunit G in blood serum def: "The amount of a eukaryotic translation initiation factor 3 subunit G when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum eukaryotic translation initiation factor 3 subunit G amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041448 name: level of eukaryotic translation initiation factor 3 subunit J in blood serum def: "The amount of a eukaryotic translation initiation factor 3 subunit J when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum eukaryotic translation initiation factor 3 subunit J amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041449 name: level of eukaryotic translation initiation factor 3 subunit M in blood serum def: "The amount of a eukaryotic translation initiation factor 3 subunit M when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum eukaryotic translation initiation factor 3 subunit M amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041450 name: level of eukaryotic initiation factor 4A-II in blood serum def: "The amount of a eukaryotic initiation factor 4A-II when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum eukaryotic initiation factor 4A-II amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041451 name: level of eukaryotic translation initiation factor 4B in blood serum def: "The amount of a eukaryotic translation initiation factor 4B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum eukaryotic translation initiation factor 4B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041452 name: level of eukaryotic translation initiation factor 4E in blood serum def: "The amount of a eukaryotic translation initiation factor 4E when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum eukaryotic translation initiation factor 4E amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041453 name: level of eukaryotic translation initiation factor 4E type 2 in blood serum def: "The amount of a eukaryotic translation initiation factor 4E type 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum eukaryotic translation initiation factor 4E type 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041454 name: level of eukaryotic translation initiation factor 4E-binding protein 1 in blood serum def: "The amount of a eukaryotic translation initiation factor 4E-binding protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum eukaryotic translation initiation factor 4E-binding protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2050337 ! level of eukaryotic translation initiation factor 4E-binding protein 1 in blood plasma [Term] id: OBA:2041455 name: level of eukaryotic translation initiation factor 4E-binding protein 3 in blood serum def: "The amount of a eukaryotic translation initiation factor 4E-binding protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum eukaryotic translation initiation factor 4E-binding protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041456 name: level of eukaryotic translation initiation factor 4 gamma 1 in blood serum def: "The amount of a eukaryotic translation initiation factor 4 gamma 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum eukaryotic translation initiation factor 4 gamma 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041457 name: level of eukaryotic translation initiation factor 4 gamma 3 in blood serum def: "The amount of a eukaryotic translation initiation factor 4 gamma 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum eukaryotic translation initiation factor 4 gamma 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041458 name: level of eukaryotic translation initiation factor 5A-2 in blood serum def: "The amount of a eukaryotic translation initiation factor 5A-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum eukaryotic translation initiation factor 5A-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041459 name: level of chymotrypsin-like elastase family member 1 in blood serum def: "The amount of a chymotrypsin-like elastase family member 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum chymotrypsin-like elastase family member 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041460 name: level of chymotrypsin-like elastase family member 2A in blood serum def: "The amount of a chymotrypsin-like elastase family member 2A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum chymotrypsin-like elastase family member 2A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041461 name: level of chymotrypsin-like elastase family member 3B in blood serum def: "The amount of a chymotrypsin-like elastase family member 3B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum chymotrypsin-like elastase family member 3B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041462 name: level of zinc phosphodiesterase ELAC protein 1 in blood serum def: "The amount of a zinc phosphodiesterase ELAC protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc phosphodiesterase ELAC protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041463 name: level of ELAV-like protein 1 in blood serum def: "The amount of a ELAV-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ELAV-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041464 name: level of ELAV-like protein 2 in blood serum def: "The amount of a ELAV-like protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ELAV-like protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041465 name: level of ETS-related transcription factor Elf-5 in blood serum def: "The amount of a ETS-related transcription factor Elf-5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ETS-related transcription factor Elf-5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041466 name: level of ETS domain-containing protein Elk-1 in blood serum def: "The amount of a ETS domain-containing protein Elk-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ETS domain-containing protein Elk-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041467 name: level of ETS domain-containing protein Elk-3 in blood serum def: "The amount of a ETS domain-containing protein Elk-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ETS domain-containing protein Elk-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041468 name: level of ETS domain-containing protein Elk-4 in blood serum def: "The amount of a ETS domain-containing protein Elk-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ETS domain-containing protein Elk-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041469 name: level of RNA polymerase II elongation factor ELL in blood serum def: "The amount of a RNA polymerase II elongation factor ELL when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RNA polymerase II elongation factor ELL amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041470 name: level of RNA polymerase II elongation factor ELL2 in blood serum def: "The amount of a RNA polymerase II elongation factor ELL2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RNA polymerase II elongation factor ELL2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041471 name: level of RNA polymerase II elongation factor ELL3 in blood serum def: "The amount of a RNA polymerase II elongation factor ELL3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RNA polymerase II elongation factor ELL3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041472 name: level of engulfment and cell motility protein 1 in blood serum def: "The amount of a engulfment and cell motility protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum engulfment and cell motility protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041473 name: level of engulfment and cell motility protein 2 in blood serum def: "The amount of a engulfment and cell motility protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum engulfment and cell motility protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041474 name: level of echinoderm microtubule-associated protein-like 2 in blood serum def: "The amount of a echinoderm microtubule-associated protein-like 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum echinoderm microtubule-associated protein-like 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041475 name: level of protein enabled in blood serum def: "The amount of a protein enabled when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein enabled amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041476 name: level of nuclease EXOG, mitochondrial in blood serum def: "The amount of a nuclease EXOG, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nuclease EXOG, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041477 name: level of cytosolic endo-beta-N-acetylglucosaminidase in blood serum def: "The amount of a cytosolic endo-beta-N-acetylglucosaminidase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cytosolic endo-beta-N-acetylglucosaminidase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041478 name: level of beta-enolase in blood serum def: "The amount of a beta-enolase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-enolase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041479 name: level of ecto-NOX disulfide-thiol exchanger 2 in blood serum def: "The amount of a ecto-NOX disulfide-thiol exchanger 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ecto-NOX disulfide-thiol exchanger 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041480 name: level of ectonucleotide pyrophosphatase/phosphodiesterase family member 2 in blood serum def: "The amount of a ectonucleotide pyrophosphatase/phosphodiesterase family member 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ectonucleotide pyrophosphatase/phosphodiesterase family member 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041481 name: level of ectonucleotide pyrophosphatase/phosphodiesterase family member 5 in blood serum def: "The amount of a ectonucleotide pyrophosphatase/phosphodiesterase family member 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ectonucleotide pyrophosphatase/phosphodiesterase family member 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041482 name: level of glycerophosphocholine cholinephosphodiesterase ENPP6 in blood serum def: "The amount of a glycerophosphocholine cholinephosphodiesterase ENPP6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glycerophosphocholine cholinephosphodiesterase ENPP6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041483 name: level of ectonucleoside triphosphate diphosphohydrolase 2 in blood serum def: "The amount of a ectonucleoside triphosphate diphosphohydrolase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ectonucleoside triphosphate diphosphohydrolase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041484 name: level of ectonucleoside triphosphate diphosphohydrolase 6 in blood serum def: "The amount of a ectonucleoside triphosphate diphosphohydrolase 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ectonucleoside triphosphate diphosphohydrolase 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041485 name: level of protein 4.1 in blood serum def: "The amount of a protein 4.1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein 4.1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041486 name: level of band 4.1-like protein 1 in blood serum def: "The amount of a band 4.1-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum band 4.1-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041487 name: level of dematin in blood serum def: "The amount of a dematin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dematin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041488 name: level of mammalian ependymin-related protein 1 in blood serum def: "The amount of a mammalian ependymin-related protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mammalian ependymin-related protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041489 name: level of ephrin type-A receptor 4 in blood serum def: "The amount of a ephrin type-A receptor 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ephrin type-A receptor 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041490 name: level of ephrin type-A receptor 6 in blood serum def: "The amount of a ephrin type-A receptor 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ephrin type-A receptor 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041491 name: level of ephrin type-A receptor 7 in blood serum def: "The amount of a ephrin type-A receptor 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ephrin type-A receptor 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041492 name: level of ephrin type-A receptor 8 in blood serum def: "The amount of a ephrin type-A receptor 8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ephrin type-A receptor 8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041493 name: level of ephrin type-B receptor 1 in blood serum def: "The amount of a ephrin type-B receptor 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ephrin type-B receptor 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041494 name: level of ephrin type-B receptor 3 in blood serum def: "The amount of a ephrin type-B receptor 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ephrin type-B receptor 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041495 name: level of epoxide hydrolase 2 in blood serum def: "The amount of a epoxide hydrolase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum epoxide hydrolase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041496 name: level of epsin-1 in blood serum def: "The amount of a epsin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum epsin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041497 name: level of epidermal growth factor receptor kinase substrate 8-like protein 1 in blood serum def: "The amount of a epidermal growth factor receptor kinase substrate 8-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum epidermal growth factor receptor kinase substrate 8-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041498 name: level of epidermal growth factor receptor kinase substrate 8-like protein 2 in blood serum def: "The amount of a epidermal growth factor receptor kinase substrate 8-like protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum epidermal growth factor receptor kinase substrate 8-like protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041499 name: level of epidermal growth factor receptor kinase substrate 8-like protein 3 in blood serum def: "The amount of a epidermal growth factor receptor kinase substrate 8-like protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum epidermal growth factor receptor kinase substrate 8-like protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041500 name: level of endoplasmic reticulum aminopeptidase 2 in blood serum def: "The amount of a endoplasmic reticulum aminopeptidase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum endoplasmic reticulum aminopeptidase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041501 name: level of ELKS/Rab6-interacting/CAST family member 1 in blood serum def: "The amount of a ELKS/Rab6-interacting/CAST family member 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ELKS/Rab6-interacting/CAST family member 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041502 name: level of DNA excision repair protein ERCC-1 in blood serum def: "The amount of a DNA excision repair protein ERCC-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA excision repair protein ERCC-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041503 name: level of DNA repair endonuclease XPF in blood serum def: "The amount of a DNA repair endonuclease XPF when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA repair endonuclease XPF amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041504 name: level of erlin-1 in blood serum def: "The amount of a erlin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum erlin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041505 name: level of erythroid membrane-associated protein in blood serum def: "The amount of a erythroid membrane-associated protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum erythroid membrane-associated protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041506 name: level of ermin in blood serum def: "The amount of a ermin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ermin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041507 name: level of serine/threonine-protein kinase/endoribonuclease IRE1 in blood serum def: "The amount of a serine/threonine-protein kinase/endoribonuclease IRE1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine/threonine-protein kinase/endoribonuclease IRE1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041508 name: level of ERO1-like protein alpha in blood serum def: "The amount of a ERO1-like protein alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ERO1-like protein alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041509 name: level of ERO1-like protein beta in blood serum def: "The amount of a ERO1-like protein beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ERO1-like protein beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041510 name: level of endoplasmic reticulum resident protein 27 in blood serum def: "The amount of a endoplasmic reticulum resident protein 27 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum endoplasmic reticulum resident protein 27 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041511 name: level of espin in blood serum def: "The amount of a espin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum espin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041512 name: level of epithelial splicing regulatory protein 1 in blood serum def: "The amount of a epithelial splicing regulatory protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum epithelial splicing regulatory protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041513 name: level of steroid hormone receptor ERR1 in blood serum def: "The amount of a steroid hormone receptor ERR1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum steroid hormone receptor ERR1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041514 name: level of electron transfer flavoprotein subunit alpha, mitochondrial in blood serum def: "The amount of a electron transfer flavoprotein subunit alpha, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum electron transfer flavoprotein subunit alpha, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041515 name: level of ethanolamine kinase 1 in blood serum def: "The amount of a ethanolamine kinase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ethanolamine kinase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041516 name: level of ethanolamine kinase 2 in blood serum def: "The amount of a ethanolamine kinase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ethanolamine kinase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041517 name: level of protein C-ets-2 in blood serum def: "The amount of a protein C-ets-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein C-ets-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041518 name: level of ETS translocation variant 2 in blood serum def: "The amount of a ETS translocation variant 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ETS translocation variant 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041519 name: level of transcription factor ETV7 in blood serum def: "The amount of a transcription factor ETV7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription factor ETV7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041520 name: level of protein EURL in blood serum def: "The amount of a protein EURL when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein EURL amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041521 name: level of ena/VASP-like protein in blood serum def: "The amount of a ena/VASP-like protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ena/VASP-like protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041522 name: level of envoplakin in blood serum def: "The amount of a envoplakin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum envoplakin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041523 name: level of RNA-binding protein EWS in blood serum def: "The amount of a RNA-binding protein EWS when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RNA-binding protein EWS amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041524 name: level of exocyst complex component 7 in blood serum def: "The amount of a exocyst complex component 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum exocyst complex component 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041525 name: level of exosome complex component CSL4 in blood serum def: "The amount of a exosome complex component CSL4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum exosome complex component CSL4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041526 name: level of exosome complex component RRP40 in blood serum def: "The amount of a exosome complex component RRP40 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum exosome complex component RRP40 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041527 name: level of exosome complex component RRP46 in blood serum def: "The amount of a exosome complex component RRP46 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum exosome complex component RRP46 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041528 name: level of exosome complex component RRP43 in blood serum def: "The amount of a exosome complex component RRP43 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum exosome complex component RRP43 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041529 name: level of exostosin-like 2 in blood serum def: "The amount of a exostosin-like 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum exostosin-like 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041530 name: level of eyes absent homolog 2 in blood serum def: "The amount of a eyes absent homolog 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum eyes absent homolog 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041531 name: level of histone-lysine N-methyltransferase EZH2 in blood serum def: "The amount of a histone-lysine N-methyltransferase EZH2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum histone-lysine N-methyltransferase EZH2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041532 name: level of coagulation factor XI in blood serum def: "The amount of a coagulation factor XI when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum coagulation factor XI amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041533 name: level of coagulation factor XIII A chain in blood serum def: "The amount of a coagulation factor XIII A chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum coagulation factor XIII A chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041534 name: level of coagulation factor XIII B chain in blood serum def: "The amount of a coagulation factor XIII B chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum coagulation factor XIII B chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041535 name: level of coagulation factor VII in blood serum def: "The amount of a coagulation factor VII when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum coagulation factor VII amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041536 name: level of coagulation factor VIII in blood serum def: "The amount of a coagulation factor VIII when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum coagulation factor VIII amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041537 name: level of fatty-acid amide hydrolase 2 in blood serum def: "The amount of a fatty-acid amide hydrolase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum fatty-acid amide hydrolase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041538 name: level of fatty acid-binding protein, intestinal in blood serum def: "The amount of a fatty acid-binding protein, intestinal when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum fatty acid-binding protein, intestinal amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041539 name: level of gastrotropin in blood serum def: "The amount of a gastrotropin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum gastrotropin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041540 name: level of fatty acid-binding protein 9 in blood serum def: "The amount of a fatty acid-binding protein 9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum fatty acid-binding protein 9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041541 name: level of FAS-associated factor 2 in blood serum def: "The amount of a FAS-associated factor 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum FAS-associated factor 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041542 name: level of fumarylacetoacetase in blood serum def: "The amount of a fumarylacetoacetase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum fumarylacetoacetase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041543 name: level of fumarylacetoacetate hydrolase domain-containing protein 1 in blood serum def: "The amount of a fumarylacetoacetate hydrolase domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum fumarylacetoacetate hydrolase domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041544 name: level of fumarylacetoacetate hydrolase domain-containing protein 2A in blood serum def: "The amount of a fumarylacetoacetate hydrolase domain-containing protein 2A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum fumarylacetoacetate hydrolase domain-containing protein 2A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041545 name: level of Fas apoptotic inhibitory molecule 1 in blood serum def: "The amount of a Fas apoptotic inhibitory molecule 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Fas apoptotic inhibitory molecule 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041546 name: level of Fas apoptotic inhibitory molecule 3 in blood serum def: "The amount of a Fas apoptotic inhibitory molecule 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Fas apoptotic inhibitory molecule 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041547 name: level of Fanconi anemia group F protein in blood serum def: "The amount of a Fanconi anemia group F protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Fanconi anemia group F protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041548 name: level of E3 ubiquitin-protein ligase FANCL in blood serum def: "The amount of a E3 ubiquitin-protein ligase FANCL when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 ubiquitin-protein ligase FANCL amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041549 name: level of phenylalanine--tRNA ligase, mitochondrial in blood serum def: "The amount of a phenylalanine--tRNA ligase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phenylalanine--tRNA ligase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041550 name: level of fatty acid synthase in blood serum def: "The amount of a fatty acid synthase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum fatty acid synthase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041551 name: level of fetal and adult testis-expressed transcript protein in blood serum def: "The amount of a fetal and adult testis-expressed transcript protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum fetal and adult testis-expressed transcript protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041552 name: level of fibulin-1 in blood serum def: "The amount of a fibulin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum fibulin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041553 name: level of fibulin-5 in blood serum def: "The amount of a fibulin-5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum fibulin-5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041554 name: level of fibulin-7 in blood serum def: "The amount of a fibulin-7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum fibulin-7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041555 name: level of fructose-1,6-bisphosphatase 1 in blood serum def: "The amount of a fructose-1,6-bisphosphatase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum fructose-1,6-bisphosphatase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041556 name: level of fructose-1,6-bisphosphatase isozyme 2 in blood serum def: "The amount of a fructose-1,6-bisphosphatase isozyme 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum fructose-1,6-bisphosphatase isozyme 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041557 name: level of F-box/LRR-repeat protein 5 in blood serum def: "The amount of a F-box/LRR-repeat protein 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum F-box/LRR-repeat protein 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041558 name: level of F-box only protein 3 in blood serum def: "The amount of a F-box only protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum F-box only protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041559 name: level of F-box only protein 48 in blood serum def: "The amount of a F-box only protein 48 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum F-box only protein 48 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041560 name: level of high affinity immunoglobulin alpha and immunoglobulin mu Fc receptor in blood serum def: "The amount of a high affinity immunoglobulin alpha and immunoglobulin mu Fc receptor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum high affinity immunoglobulin alpha and immunoglobulin mu Fc receptor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041561 name: level of high affinity immunoglobulin epsilon receptor subunit alpha in blood serum def: "The amount of a high affinity immunoglobulin epsilon receptor subunit alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum high affinity immunoglobulin epsilon receptor subunit alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041562 name: level of IgG receptor FcRn large subunit p51 in blood serum def: "The amount of a IgG receptor FcRn large subunit p51 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum IgG receptor FcRn large subunit p51 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041563 name: level of Fc receptor-like protein 1 in blood serum def: "The amount of a Fc receptor-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Fc receptor-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041564 name: level of Fc receptor-like protein 2 in blood serum def: "The amount of a Fc receptor-like protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Fc receptor-like protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041565 name: level of Fc receptor-like protein 6 in blood serum def: "The amount of a Fc receptor-like protein 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Fc receptor-like protein 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041566 name: level of Fc receptor-like A in blood serum def: "The amount of a Fc receptor-like A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Fc receptor-like A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041567 name: level of Fc receptor-like B in blood serum def: "The amount of a Fc receptor-like B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Fc receptor-like B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041568 name: level of follicular dendritic cell secreted peptide in blood serum def: "The amount of a follicular dendritic cell secreted peptide when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum follicular dendritic cell secreted peptide amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041569 name: level of farnesyl pyrophosphate synthase in blood serum def: "The amount of a farnesyl pyrophosphate synthase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum farnesyl pyrophosphate synthase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041570 name: level of ferredoxin-2, mitochondrial in blood serum def: "The amount of a ferredoxin-2, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ferredoxin-2, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041571 name: level of flap endonuclease 1 in blood serum def: "The amount of a flap endonuclease 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum flap endonuclease 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041572 name: level of protein FEV in blood serum def: "The amount of a protein FEV when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein FEV amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041573 name: level of fibroblast growth factor 22 in blood serum def: "The amount of a fibroblast growth factor 22 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum fibroblast growth factor 22 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041574 name: level of fibroblast growth factor 3 in blood serum def: "The amount of a fibroblast growth factor 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum fibroblast growth factor 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041575 name: level of fibroblast growth factor 8 in blood serum def: "The amount of a fibroblast growth factor 8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum fibroblast growth factor 8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041576 name: level of fibroblast growth factor-binding protein 1 in blood serum def: "The amount of a fibroblast growth factor-binding protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum fibroblast growth factor-binding protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041577 name: level of centrosomal protein 43 in blood serum def: "The amount of a centrosomal protein 43 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum centrosomal protein 43 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041578 name: level of fibroblast growth factor receptor-like 1 in blood serum def: "The amount of a fibroblast growth factor receptor-like 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum fibroblast growth factor receptor-like 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041579 name: level of fumarate hydratase, mitochondrial in blood serum def: "The amount of a fumarate hydratase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum fumarate hydratase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041580 name: level of bis(5'-adenosyl)-triphosphatase in blood serum def: "The amount of a bis(5'-adenosyl)-triphosphatase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum bis(5'-adenosyl)-triphosphatase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041581 name: level of four and a half LIM domains protein 1 in blood serum def: "The amount of a four and a half LIM domains protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum four and a half LIM domains protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041582 name: level of FH1/FH2 domain-containing protein 1 in blood serum def: "The amount of a FH1/FH2 domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum FH1/FH2 domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041583 name: level of acidic fibroblast growth factor intracellular-binding protein in blood serum def: "The amount of a acidic fibroblast growth factor intracellular-binding protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum acidic fibroblast growth factor intracellular-binding protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041584 name: level of mitochondrial fission 1 protein in blood serum def: "The amount of a mitochondrial fission 1 protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mitochondrial fission 1 protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041585 name: level of four-jointed box protein 1 in blood serum def: "The amount of a four-jointed box protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum four-jointed box protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041586 name: level of peptidyl-prolyl cis-trans isomerase FKBP14 in blood serum def: "The amount of a peptidyl-prolyl cis-trans isomerase FKBP14 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum peptidyl-prolyl cis-trans isomerase FKBP14 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041587 name: level of peptidyl-prolyl cis-trans isomerase FKBP1A in blood serum def: "The amount of a peptidyl-prolyl cis-trans isomerase FKBP1A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum peptidyl-prolyl cis-trans isomerase FKBP1A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041588 name: level of peptidyl-prolyl cis-trans isomerase FKBP1B in blood serum def: "The amount of a peptidyl-prolyl cis-trans isomerase FKBP1B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum peptidyl-prolyl cis-trans isomerase FKBP1B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041589 name: level of peptidyl-prolyl cis-trans isomerase FKBP3 in blood serum def: "The amount of a peptidyl-prolyl cis-trans isomerase FKBP3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum peptidyl-prolyl cis-trans isomerase FKBP3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041590 name: level of peptidyl-prolyl cis-trans isomerase FKBP5 in blood serum def: "The amount of a peptidyl-prolyl cis-trans isomerase FKBP5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum peptidyl-prolyl cis-trans isomerase FKBP5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041591 name: level of peptidyl-prolyl cis-trans isomerase FKBP6 in blood serum def: "The amount of a peptidyl-prolyl cis-trans isomerase FKBP6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum peptidyl-prolyl cis-trans isomerase FKBP6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041592 name: level of peptidyl-prolyl cis-trans isomerase FKBP7 in blood serum def: "The amount of a peptidyl-prolyl cis-trans isomerase FKBP7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum peptidyl-prolyl cis-trans isomerase FKBP7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041593 name: level of Friend leukemia integration 1 transcription factor in blood serum def: "The amount of a Friend leukemia integration 1 transcription factor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Friend leukemia integration 1 transcription factor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041594 name: level of protein flightless-1 in blood serum def: "The amount of a protein flightless-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein flightless-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041595 name: level of vascular endothelial growth factor receptor 1 in blood serum def: "The amount of a vascular endothelial growth factor receptor 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum vascular endothelial growth factor receptor 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041596 name: level of flavin-containing monooxygenase 3 in blood serum def: "The amount of a flavin-containing monooxygenase 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum flavin-containing monooxygenase 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041597 name: level of fibromodulin in blood serum def: "The amount of a fibromodulin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum fibromodulin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041598 name: level of fructosamine-3-kinase in blood serum def: "The amount of a fructosamine-3-kinase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum fructosamine-3-kinase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041599 name: level of formin-binding protein 1 in blood serum def: "The amount of a formin-binding protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum formin-binding protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041600 name: level of protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha in blood serum def: "The amount of a protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041601 name: level of folate receptor alpha in blood serum def: "The amount of a folate receptor alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum folate receptor alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041602 name: level of folate receptor beta in blood serum def: "The amount of a folate receptor beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum folate receptor beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041603 name: level of folate receptor gamma in blood serum def: "The amount of a folate receptor gamma when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum folate receptor gamma amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041604 name: level of Fos-related antigen 2 in blood serum def: "The amount of a Fos-related antigen 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Fos-related antigen 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041605 name: level of RNA binding protein fox-1 homolog 1 in blood serum def: "The amount of a RNA binding protein fox-1 homolog 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RNA binding protein fox-1 homolog 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041606 name: level of forkhead box protein C2 in blood serum def: "The amount of a forkhead box protein C2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum forkhead box protein C2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041607 name: level of forkhead box protein J2 in blood serum def: "The amount of a forkhead box protein J2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum forkhead box protein J2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041608 name: level of forkhead box protein L2 in blood serum def: "The amount of a forkhead box protein L2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum forkhead box protein L2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041609 name: level of forkhead box protein M1 in blood serum def: "The amount of a forkhead box protein M1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum forkhead box protein M1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041610 name: level of forkhead box protein O1 in blood serum def: "The amount of a forkhead box protein O1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum forkhead box protein O1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041611 name: level of forkhead box protein O3 in blood serum def: "The amount of a forkhead box protein O3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum forkhead box protein O3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041612 name: level of forkhead box protein O4 in blood serum def: "The amount of a forkhead box protein O4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum forkhead box protein O4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041613 name: level of forkhead box protein P1 in blood serum def: "The amount of a forkhead box protein P1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum forkhead box protein P1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041614 name: level of forkhead box protein P4 in blood serum def: "The amount of a forkhead box protein P4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum forkhead box protein P4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041615 name: level of FRAS1-related extracellular matrix protein 1 in blood serum def: "The amount of a FRAS1-related extracellular matrix protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum FRAS1-related extracellular matrix protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041616 name: level of FRAS1-related extracellular matrix protein 2 in blood serum def: "The amount of a FRAS1-related extracellular matrix protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum FRAS1-related extracellular matrix protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041617 name: level of protein FRG1 in blood serum def: "The amount of a protein FRG1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein FRG1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041618 name: level of fibroblast growth factor receptor substrate 2 in blood serum def: "The amount of a fibroblast growth factor receptor substrate 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum fibroblast growth factor receptor substrate 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041619 name: level of fascin in blood serum def: "The amount of a fascin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum fascin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041620 name: level of fibronectin type III and SPRY domain-containing protein 1 in blood serum def: "The amount of a fibronectin type III and SPRY domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum fibronectin type III and SPRY domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041621 name: level of follitropin subunit beta in blood serum def: "The amount of a follitropin subunit beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum follitropin subunit beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041622 name: level of follistatin-related protein 4 in blood serum def: "The amount of a follistatin-related protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum follistatin-related protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041623 name: level of follistatin-related protein 5 in blood serum def: "The amount of a follistatin-related protein 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum follistatin-related protein 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041624 name: level of ferritin heavy chain in blood serum def: "The amount of a ferritin heavy chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ferritin heavy chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041625 name: level of ferritin heavy polypeptide-like 17 in blood serum def: "The amount of a ferritin heavy polypeptide-like 17 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ferritin heavy polypeptide-like 17 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041626 name: level of ferritin light chain in blood serum def: "The amount of a ferritin light chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ferritin light chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041627 name: level of ferritin, mitochondrial in blood serum def: "The amount of a ferritin, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ferritin, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041628 name: level of alpha-ketoglutarate-dependent dioxygenase FTO in blood serum def: "The amount of a alpha-ketoglutarate-dependent dioxygenase FTO when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-ketoglutarate-dependent dioxygenase FTO amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041629 name: level of far upstream element-binding protein 1 in blood serum def: "The amount of a far upstream element-binding protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum far upstream element-binding protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041630 name: level of far upstream element-binding protein 3 in blood serum def: "The amount of a far upstream element-binding protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum far upstream element-binding protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041631 name: level of tissue alpha-L-fucosidase in blood serum def: "The amount of a tissue alpha-L-fucosidase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tissue alpha-L-fucosidase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041632 name: level of alpha-(1,3)-fucosyltransferase 10 in blood serum def: "The amount of a alpha-(1,3)-fucosyltransferase 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-(1,3)-fucosyltransferase 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041633 name: level of alpha-(1,3)-fucosyltransferase 11 in blood serum def: "The amount of a alpha-(1,3)-fucosyltransferase 11 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-(1,3)-fucosyltransferase 11 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041634 name: level of galactoside alpha-(1,2)-fucosyltransferase 2 in blood serum def: "The amount of a galactoside alpha-(1,2)-fucosyltransferase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum galactoside alpha-(1,2)-fucosyltransferase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041635 name: level of alpha-(1,6)-fucosyltransferase in blood serum def: "The amount of a alpha-(1,6)-fucosyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-(1,6)-fucosyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041636 name: level of mitochondrial import inner membrane translocase subunit Tim9 B in blood serum def: "The amount of a mitochondrial import inner membrane translocase subunit Tim9 B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mitochondrial import inner membrane translocase subunit Tim9 B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041637 name: level of frataxin, mitochondrial in blood serum def: "The amount of a frataxin, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum frataxin, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041638 name: level of sodium/potassium-transporting ATPase subunit gamma in blood serum def: "The amount of a sodium/potassium-transporting ATPase subunit gamma when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sodium/potassium-transporting ATPase subunit gamma amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041639 name: level of frizzled-1 in blood serum def: "The amount of a frizzled-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum frizzled-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041640 name: level of frizzled-2 in blood serum def: "The amount of a frizzled-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum frizzled-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041641 name: level of frizzled-5 in blood serum def: "The amount of a frizzled-5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum frizzled-5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041642 name: level of frizzled-7 in blood serum def: "The amount of a frizzled-7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum frizzled-7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041643 name: level of frizzled-8 in blood serum def: "The amount of a frizzled-8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum frizzled-8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041644 name: level of Ras GTPase-activating protein-binding protein 1 in blood serum def: "The amount of a Ras GTPase-activating protein-binding protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras GTPase-activating protein-binding protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041645 name: level of glucose-6-phosphate 1-dehydrogenase in blood serum def: "The amount of a glucose-6-phosphate 1-dehydrogenase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glucose-6-phosphate 1-dehydrogenase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041646 name: level of GRB2-associated-binding protein 1 in blood serum def: "The amount of a GRB2-associated-binding protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum GRB2-associated-binding protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041647 name: level of gamma-aminobutyric acid receptor-associated protein in blood serum def: "The amount of a gamma-aminobutyric acid receptor-associated protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum gamma-aminobutyric acid receptor-associated protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041648 name: level of gamma-aminobutyric acid receptor-associated protein-like 1 in blood serum def: "The amount of a gamma-aminobutyric acid receptor-associated protein-like 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum gamma-aminobutyric acid receptor-associated protein-like 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041649 name: level of gamma-aminobutyric acid receptor-associated protein-like 2 in blood serum def: "The amount of a gamma-aminobutyric acid receptor-associated protein-like 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum gamma-aminobutyric acid receptor-associated protein-like 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041650 name: level of GA-binding protein subunit beta-1 in blood serum def: "The amount of a GA-binding protein subunit beta-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum GA-binding protein subunit beta-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041651 name: level of glutamate decarboxylase 1 in blood serum def: "The amount of a glutamate decarboxylase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutamate decarboxylase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount relationship: characteristic_of PR:000007785 ! glutamate decarboxylase 1 [Term] id: OBA:2041652 name: level of growth arrest and DNA damage-inducible proteins-interacting protein 1 in blood serum def: "The amount of a growth arrest and DNA damage-inducible proteins-interacting protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum growth arrest and DNA damage-inducible proteins-interacting protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041653 name: level of G antigen 2B/2C in blood serum def: "The amount of a G antigen 2B/2C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum G antigen 2B/2C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041654 name: level of G antigen 2D in blood serum def: "The amount of a G antigen 2D when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum G antigen 2D amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041655 name: level of galactosylceramide sulfotransferase in blood serum def: "The amount of a galactosylceramide sulfotransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum galactosylceramide sulfotransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041656 name: level of galactokinase in blood serum def: "The amount of a galactokinase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum galactokinase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041657 name: level of N-acetylgalactosamine kinase in blood serum def: "The amount of a N-acetylgalactosamine kinase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum N-acetylgalactosamine kinase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041658 name: level of N-acetylgalactosamine-6-sulfatase in blood serum def: "The amount of a N-acetylgalactosamine-6-sulfatase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum N-acetylgalactosamine-6-sulfatase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041659 name: level of polypeptide N-acetylgalactosaminyltransferase 1 in blood serum def: "The amount of a polypeptide N-acetylgalactosaminyltransferase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum polypeptide N-acetylgalactosaminyltransferase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041660 name: level of polypeptide N-acetylgalactosaminyltransferase 10 in blood serum def: "The amount of a polypeptide N-acetylgalactosaminyltransferase 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum polypeptide N-acetylgalactosaminyltransferase 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041661 name: level of polypeptide N-acetylgalactosaminyltransferase 11 in blood serum def: "The amount of a polypeptide N-acetylgalactosaminyltransferase 11 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum polypeptide N-acetylgalactosaminyltransferase 11 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041662 name: level of polypeptide N-acetylgalactosaminyltransferase 13 in blood serum def: "The amount of a polypeptide N-acetylgalactosaminyltransferase 13 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum polypeptide N-acetylgalactosaminyltransferase 13 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041663 name: level of polypeptide N-acetylgalactosaminyltransferase 14 in blood serum def: "The amount of a polypeptide N-acetylgalactosaminyltransferase 14 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum polypeptide N-acetylgalactosaminyltransferase 14 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041664 name: level of polypeptide N-acetylgalactosaminyltransferase 2 in blood serum def: "The amount of a polypeptide N-acetylgalactosaminyltransferase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum polypeptide N-acetylgalactosaminyltransferase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041665 name: level of polypeptide N-acetylgalactosaminyltransferase 3 in blood serum def: "The amount of a polypeptide N-acetylgalactosaminyltransferase 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum polypeptide N-acetylgalactosaminyltransferase 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041666 name: level of polypeptide N-acetylgalactosaminyltransferase 4 in blood serum def: "The amount of a polypeptide N-acetylgalactosaminyltransferase 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum polypeptide N-acetylgalactosaminyltransferase 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041667 name: level of polypeptide N-acetylgalactosaminyltransferase 9 in blood serum def: "The amount of a polypeptide N-acetylgalactosaminyltransferase 9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum polypeptide N-acetylgalactosaminyltransferase 9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041668 name: level of galanin-like peptide in blood serum def: "The amount of a galanin-like peptide when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum galanin-like peptide amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041669 name: level of gigaxonin in blood serum def: "The amount of a gigaxonin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum gigaxonin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041670 name: level of neuromodulin in blood serum def: "The amount of a neuromodulin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neuromodulin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041671 name: level of glyceraldehyde-3-phosphate dehydrogenase, testis-specific in blood serum def: "The amount of a glyceraldehyde-3-phosphate dehydrogenase, testis-specific when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glyceraldehyde-3-phosphate dehydrogenase, testis-specific amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041672 name: level of glycine--tRNA ligase in blood serum def: "The amount of a glycine--tRNA ligase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glycine--tRNA ligase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041673 name: level of growth arrest-specific protein 2 in blood serum def: "The amount of a growth arrest-specific protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum growth arrest-specific protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041674 name: level of growth arrest-specific protein 6 in blood serum def: "The amount of a growth arrest-specific protein 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum growth arrest-specific protein 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041675 name: level of growth arrest-specific protein 7 in blood serum def: "The amount of a growth arrest-specific protein 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum growth arrest-specific protein 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041676 name: level of glycine amidinotransferase, mitochondrial in blood serum def: "The amount of a glycine amidinotransferase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glycine amidinotransferase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041677 name: level of cytosolic arginine sensor for mTORC1 subunit 1 in blood serum def: "The amount of a cytosolic arginine sensor for mTORC1 subunit 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cytosolic arginine sensor for mTORC1 subunit 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041678 name: level of lysosomal acid glucosylceramidase in blood serum def: "The amount of a lysosomal acid glucosylceramidase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lysosomal acid glucosylceramidase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041679 name: level of cytosolic beta-glucosidase in blood serum def: "The amount of a cytosolic beta-glucosidase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cytosolic beta-glucosidase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041680 name: level of guanylate-binding protein 1 in blood serum def: "The amount of a guanylate-binding protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum guanylate-binding protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041681 name: level of guanylate-binding protein 2 in blood serum def: "The amount of a guanylate-binding protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum guanylate-binding protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041682 name: level of guanylate-binding protein 5 in blood serum def: "The amount of a guanylate-binding protein 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum guanylate-binding protein 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041683 name: level of guanylate-binding protein 6 in blood serum def: "The amount of a guanylate-binding protein 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum guanylate-binding protein 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041684 name: level of grancalcin in blood serum def: "The amount of a grancalcin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum grancalcin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041685 name: level of glutaryl-CoA dehydrogenase, mitochondrial in blood serum def: "The amount of a glutaryl-CoA dehydrogenase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutaryl-CoA dehydrogenase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041686 name: level of GTP cyclohydrolase 1 in blood serum def: "The amount of a GTP cyclohydrolase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum GTP cyclohydrolase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041687 name: level of GTP cyclohydrolase 1 feedback regulatory protein in blood serum def: "The amount of a GTP cyclohydrolase 1 feedback regulatory protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum GTP cyclohydrolase 1 feedback regulatory protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041688 name: level of hexokinase-4 in blood serum def: "The amount of a hexokinase-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum hexokinase-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041689 name: level of glutamate--cysteine ligase regulatory subunit in blood serum def: "The amount of a glutamate--cysteine ligase regulatory subunit when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutamate--cysteine ligase regulatory subunit amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041690 name: level of histone acetyltransferase KAT2A in blood serum def: "The amount of a histone acetyltransferase KAT2A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum histone acetyltransferase KAT2A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041691 name: level of beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase in blood serum def: "The amount of a beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041692 name: level of N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase in blood serum def: "The amount of a N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041693 name: level of beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 in blood serum def: "The amount of a beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041694 name: level of glycine cleavage system H protein, mitochondrial in blood serum def: "The amount of a glycine cleavage system H protein, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glycine cleavage system H protein, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041695 name: level of guanine deaminase in blood serum def: "The amount of a guanine deaminase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum guanine deaminase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041696 name: level of ganglioside-induced differentiation-associated protein 1-like 1 in blood serum def: "The amount of a ganglioside-induced differentiation-associated protein 1-like 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ganglioside-induced differentiation-associated protein 1-like 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041697 name: level of bone morphogenetic protein 3B in blood serum def: "The amount of a bone morphogenetic protein 3B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum bone morphogenetic protein 3B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041698 name: level of growth/differentiation factor 3 in blood serum def: "The amount of a growth/differentiation factor 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum growth/differentiation factor 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041699 name: level of Rab GDP dissociation inhibitor alpha in blood serum def: "The amount of a Rab GDP dissociation inhibitor alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Rab GDP dissociation inhibitor alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041700 name: level of Rho guanine nucleotide exchange factor 25 in blood serum def: "The amount of a Rho guanine nucleotide exchange factor 25 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Rho guanine nucleotide exchange factor 25 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041701 name: level of GTP-binding protein GEM in blood serum def: "The amount of a GTP-binding protein GEM when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum GTP-binding protein GEM amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041702 name: level of gem-associated protein 6 in blood serum def: "The amount of a gem-associated protein 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum gem-associated protein 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041703 name: level of gem-associated protein 7 in blood serum def: "The amount of a gem-associated protein 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum gem-associated protein 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041704 name: level of FAD-linked sulfhydryl oxidase ALR in blood serum def: "The amount of a FAD-linked sulfhydryl oxidase ALR when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum FAD-linked sulfhydryl oxidase ALR amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041705 name: level of glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 in blood serum def: "The amount of a glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041706 name: level of glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2 in blood serum def: "The amount of a glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041707 name: level of ADP-ribosylation factor-binding protein GGA1 in blood serum def: "The amount of a ADP-ribosylation factor-binding protein GGA1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ADP-ribosylation factor-binding protein GGA1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041708 name: level of ADP-ribosylation factor-binding protein GGA3 in blood serum def: "The amount of a ADP-ribosylation factor-binding protein GGA3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ADP-ribosylation factor-binding protein GGA3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041709 name: level of gamma-glutamylcyclotransferase in blood serum def: "The amount of a gamma-glutamylcyclotransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum gamma-glutamylcyclotransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041710 name: level of gamma-glutamyl hydrolase in blood serum def: "The amount of a gamma-glutamyl hydrolase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum gamma-glutamyl hydrolase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041711 name: level of geranylgeranyl pyrophosphate synthase in blood serum def: "The amount of a geranylgeranyl pyrophosphate synthase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum geranylgeranyl pyrophosphate synthase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041712 name: level of gamma-glutamyltranspeptidase 2 in blood serum def: "The amount of a gamma-glutamyltranspeptidase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum gamma-glutamyltranspeptidase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041713 name: level of glutathione hydrolase 5 proenzyme in blood serum def: "The amount of a glutathione hydrolase 5 proenzyme when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutathione hydrolase 5 proenzyme amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041714 name: level of growth hormone variant in blood serum def: "The amount of a growth hormone variant when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum growth hormone variant amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041715 name: level of somatoliberin in blood serum def: "The amount of a somatoliberin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum somatoliberin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041716 name: level of appetite-regulating hormone in blood serum def: "The amount of a appetite-regulating hormone when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum appetite-regulating hormone amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041717 name: level of cobalamin binding intrinsic factor in blood serum def: "The amount of a cobalamin binding intrinsic factor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cobalamin binding intrinsic factor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041718 name: level of GTPase IMAP family member 4 in blood serum def: "The amount of a GTPase IMAP family member 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum GTPase IMAP family member 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041719 name: level of DNA replication complex GINS protein PSF1 in blood serum def: "The amount of a DNA replication complex GINS protein PSF1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA replication complex GINS protein PSF1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041720 name: level of gastric inhibitory polypeptide in blood serum def: "The amount of a gastric inhibitory polypeptide when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum gastric inhibitory polypeptide amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041721 name: level of PDZ domain-containing protein GIPC1 in blood serum def: "The amount of a PDZ domain-containing protein GIPC1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PDZ domain-containing protein GIPC1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041722 name: level of gap junction alpha-8 protein in blood serum def: "The amount of a gap junction alpha-8 protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum gap junction alpha-8 protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041723 name: level of gap junction delta-2 protein in blood serum def: "The amount of a gap junction delta-2 protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum gap junction delta-2 protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041724 name: level of gastrokine-1 in blood serum def: "The amount of a gastrokine-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum gastrokine-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041725 name: level of gastrokine-2 in blood serum def: "The amount of a gastrokine-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum gastrokine-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041726 name: level of alpha-galactosidase A in blood serum def: "The amount of a alpha-galactosidase A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-galactosidase A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041727 name: level of D-glucuronyl C5-epimerase in blood serum def: "The amount of a D-glucuronyl C5-epimerase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum D-glucuronyl C5-epimerase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041728 name: level of gliomedin in blood serum def: "The amount of a gliomedin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum gliomedin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041729 name: level of glioma pathogenesis-related protein 1 in blood serum def: "The amount of a glioma pathogenesis-related protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glioma pathogenesis-related protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041730 name: level of Golgi-associated plant pathogenesis-related protein 1 in blood serum def: "The amount of a Golgi-associated plant pathogenesis-related protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Golgi-associated plant pathogenesis-related protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041731 name: level of lactoylglutathione lyase in blood serum def: "The amount of a lactoylglutathione lyase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lactoylglutathione lyase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041732 name: level of glutaredoxin-1 in blood serum def: "The amount of a glutaredoxin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutaredoxin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041733 name: level of glutaredoxin-2, mitochondrial in blood serum def: "The amount of a glutaredoxin-2, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutaredoxin-2, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041734 name: level of glutaredoxin-3 in blood serum def: "The amount of a glutaredoxin-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutaredoxin-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041735 name: level of glutaredoxin-related protein 5 in blood serum def: "The amount of a glutaredoxin-related protein 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutaredoxin-related protein 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041736 name: level of glutaminase kidney isoform, mitochondrial in blood serum def: "The amount of a glutaminase kidney isoform, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutaminase kidney isoform, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041737 name: level of glycolipid transfer protein in blood serum def: "The amount of a glycolipid transfer protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glycolipid transfer protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041738 name: level of glutamate dehydrogenase 1, mitochondrial in blood serum def: "The amount of a glutamate dehydrogenase 1, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutamate dehydrogenase 1, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041739 name: level of glutamine synthetase in blood serum def: "The amount of a glutamine synthetase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutamine synthetase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041740 name: level of glycine N-acyltransferase in blood serum def: "The amount of a glycine N-acyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glycine N-acyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041741 name: level of glycine N-acyltransferase-like protein 2 in blood serum def: "The amount of a glycine N-acyltransferase-like protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glycine N-acyltransferase-like protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041742 name: level of ganglioside GM2 activator in blood serum def: "The amount of a ganglioside GM2 activator when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ganglioside GM2 activator amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041743 name: level of GDP-mannose 4,6 dehydratase in blood serum def: "The amount of a GDP-mannose 4,6 dehydratase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum GDP-mannose 4,6 dehydratase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041744 name: level of geminin in blood serum def: "The amount of a geminin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum geminin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041745 name: level of GMP reductase 1 in blood serum def: "The amount of a GMP reductase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum GMP reductase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041746 name: level of GMP reductase 2 in blood serum def: "The amount of a GMP reductase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum GMP reductase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041747 name: level of guanine nucleotide-binding protein G(i) subunit alpha-1 in blood serum def: "The amount of a guanine nucleotide-binding protein G(i) subunit alpha-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum guanine nucleotide-binding protein G(i) subunit alpha-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041748 name: level of guanine nucleotide-binding protein G(i) subunit alpha-3 in blood serum def: "The amount of a guanine nucleotide-binding protein G(i) subunit alpha-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum guanine nucleotide-binding protein G(i) subunit alpha-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041749 name: level of guanine nucleotide-binding protein G(q) subunit alpha in blood serum def: "The amount of a guanine nucleotide-binding protein G(q) subunit alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum guanine nucleotide-binding protein G(q) subunit alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041750 name: level of receptor of activated protein C kinase 1 in blood serum def: "The amount of a receptor of activated protein C kinase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum receptor of activated protein C kinase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041751 name: level of bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase in blood serum def: "The amount of a bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041752 name: level of guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-11 in blood serum def: "The amount of a guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-11 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-11 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041753 name: level of guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12 in blood serum def: "The amount of a guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041754 name: level of guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2 in blood serum def: "The amount of a guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041755 name: level of glycine N-methyltransferase in blood serum def: "The amount of a glycine N-methyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glycine N-methyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041756 name: level of glucosamine-6-phosphate isomerase 1 in blood serum def: "The amount of a glucosamine-6-phosphate isomerase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glucosamine-6-phosphate isomerase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041757 name: level of glucosamine 6-phosphate N-acetyltransferase in blood serum def: "The amount of a glucosamine 6-phosphate N-acetyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glucosamine 6-phosphate N-acetyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041758 name: level of N-acetylglucosamine-1-phosphotransferase subunit gamma in blood serum def: "The amount of a N-acetylglucosamine-1-phosphotransferase subunit gamma when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum N-acetylglucosamine-1-phosphotransferase subunit gamma amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041759 name: level of progonadoliberin-1 in blood serum def: "The amount of a progonadoliberin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum progonadoliberin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041760 name: level of progonadoliberin-2 in blood serum def: "The amount of a progonadoliberin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum progonadoliberin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041761 name: level of golgin subfamily A member 7 in blood serum def: "The amount of a golgin subfamily A member 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum golgin subfamily A member 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041762 name: level of Golgi membrane protein 1 in blood serum def: "The amount of a Golgi membrane protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Golgi membrane protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041763 name: level of Golgi phosphoprotein 3 in blood serum def: "The amount of a Golgi phosphoprotein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Golgi phosphoprotein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041764 name: level of Golgi phosphoprotein 3-like in blood serum def: "The amount of a Golgi phosphoprotein 3-like when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Golgi phosphoprotein 3-like amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041765 name: level of RAB6-interacting golgin in blood serum def: "The amount of a RAB6-interacting golgin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RAB6-interacting golgin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041766 name: level of Golgi SNAP receptor complex member 1 in blood serum def: "The amount of a Golgi SNAP receptor complex member 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Golgi SNAP receptor complex member 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041767 name: level of aspartate aminotransferase, mitochondrial in blood serum def: "The amount of a aspartate aminotransferase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum aspartate aminotransferase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041768 name: level of glypican-1 in blood serum def: "The amount of a glypican-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glypican-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041769 name: level of glypican-4 in blood serum def: "The amount of a glypican-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glypican-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041770 name: level of glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic in blood serum def: "The amount of a glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041771 name: level of glycoprotein hormone alpha-2 in blood serum def: "The amount of a glycoprotein hormone alpha-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glycoprotein hormone alpha-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041772 name: level of gephyrin in blood serum def: "The amount of a gephyrin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum gephyrin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041773 name: level of GPN-loop GTPase 1 in blood serum def: "The amount of a GPN-loop GTPase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum GPN-loop GTPase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041774 name: level of protein GPR107 in blood serum def: "The amount of a protein GPR107 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein GPR107 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041775 name: level of adhesion G-protein coupled receptor G1 in blood serum def: "The amount of a adhesion G-protein coupled receptor G1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum adhesion G-protein coupled receptor G1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041776 name: level of adhesion G-protein coupled receptor G2 in blood serum def: "The amount of a adhesion G-protein coupled receptor G2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum adhesion G-protein coupled receptor G2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041777 name: level of alanine aminotransferase 2 in blood serum def: "The amount of a alanine aminotransferase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alanine aminotransferase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041778 name: level of glutathione peroxidase 2 in blood serum def: "The amount of a glutathione peroxidase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutathione peroxidase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041779 name: level of glutathione peroxidase 3 in blood serum def: "The amount of a glutathione peroxidase 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutathione peroxidase 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041780 name: level of epididymal secretory glutathione peroxidase in blood serum def: "The amount of a epididymal secretory glutathione peroxidase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum epididymal secretory glutathione peroxidase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041781 name: level of glutathione peroxidase 7 in blood serum def: "The amount of a glutathione peroxidase 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutathione peroxidase 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041782 name: level of GRB2-related adapter protein in blood serum def: "The amount of a GRB2-related adapter protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum GRB2-related adapter protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041783 name: level of growth factor receptor-bound protein 10 in blood serum def: "The amount of a growth factor receptor-bound protein 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum growth factor receptor-bound protein 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041784 name: level of growth factor receptor-bound protein 14 in blood serum def: "The amount of a growth factor receptor-bound protein 14 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum growth factor receptor-bound protein 14 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041785 name: level of growth factor receptor-bound protein 7 in blood serum def: "The amount of a growth factor receptor-bound protein 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum growth factor receptor-bound protein 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041786 name: level of gremlin-2 in blood serum def: "The amount of a gremlin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum gremlin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041787 name: level of glyoxylate reductase/hydroxypyruvate reductase in blood serum def: "The amount of a glyoxylate reductase/hydroxypyruvate reductase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glyoxylate reductase/hydroxypyruvate reductase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041788 name: level of glutamate receptor 4 in blood serum def: "The amount of a glutamate receptor 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutamate receptor 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041789 name: level of glutamate receptor ionotropic, delta-1 in blood serum def: "The amount of a glutamate receptor ionotropic, delta-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutamate receptor ionotropic, delta-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041790 name: level of glutamate receptor ionotropic, delta-2 in blood serum def: "The amount of a glutamate receptor ionotropic, delta-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutamate receptor ionotropic, delta-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041791 name: level of glutamate receptor ionotropic, kainate 2 in blood serum def: "The amount of a glutamate receptor ionotropic, kainate 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutamate receptor ionotropic, kainate 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041792 name: level of GRIP1-associated protein 1 in blood serum def: "The amount of a GRIP1-associated protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum GRIP1-associated protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041793 name: level of G protein-coupled receptor kinase 5 in blood serum def: "The amount of a G protein-coupled receptor kinase 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum G protein-coupled receptor kinase 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041794 name: level of metabotropic glutamate receptor 4 in blood serum def: "The amount of a metabotropic glutamate receptor 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum metabotropic glutamate receptor 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041795 name: level of GrpE protein homolog 1, mitochondrial in blood serum def: "The amount of a GrpE protein homolog 1, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum GrpE protein homolog 1, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041796 name: level of homeobox protein goosecoid-2 in blood serum def: "The amount of a homeobox protein goosecoid-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum homeobox protein goosecoid-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041797 name: level of glycogen synthase kinase-3 beta in blood serum def: "The amount of a glycogen synthase kinase-3 beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glycogen synthase kinase-3 beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041798 name: level of GSK3B-interacting protein in blood serum def: "The amount of a GSK3B-interacting protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum GSK3B-interacting protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041799 name: level of eukaryotic peptide chain release factor GTP-binding subunit ERF3B in blood serum def: "The amount of a eukaryotic peptide chain release factor GTP-binding subunit ERF3B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum eukaryotic peptide chain release factor GTP-binding subunit ERF3B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041800 name: level of glutathione reductase, mitochondrial in blood serum def: "The amount of a glutathione reductase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutathione reductase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041801 name: level of glutathione synthetase in blood serum def: "The amount of a glutathione synthetase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutathione synthetase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041802 name: level of glutathione S-transferase A1 in blood serum def: "The amount of a glutathione S-transferase A1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutathione S-transferase A1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041803 name: level of glutathione S-transferase A2 in blood serum def: "The amount of a glutathione S-transferase A2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutathione S-transferase A2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041804 name: level of glutathione S-transferase A4 in blood serum def: "The amount of a glutathione S-transferase A4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutathione S-transferase A4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041805 name: level of glutathione S-transferase kappa 1 in blood serum def: "The amount of a glutathione S-transferase kappa 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutathione S-transferase kappa 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041806 name: level of glutathione S-transferase mu 1 in blood serum def: "The amount of a glutathione S-transferase mu 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutathione S-transferase mu 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041807 name: level of glutathione S-transferase mu 5 in blood serum def: "The amount of a glutathione S-transferase mu 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutathione S-transferase mu 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041808 name: level of glutathione S-transferase omega-1 in blood serum def: "The amount of a glutathione S-transferase omega-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutathione S-transferase omega-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041809 name: level of glutathione S-transferase theta-1 in blood serum def: "The amount of a glutathione S-transferase theta-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutathione S-transferase theta-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041810 name: level of glutathione S-transferase theta-2 in blood serum def: "The amount of a glutathione S-transferase theta-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutathione S-transferase theta-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041811 name: level of maleylacetoacetate isomerase in blood serum def: "The amount of a maleylacetoacetate isomerase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum maleylacetoacetate isomerase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041812 name: level of transcription initiation factor IIA subunit 2 in blood serum def: "The amount of a transcription initiation factor IIA subunit 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription initiation factor IIA subunit 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041813 name: level of transcription initiation factor IIB in blood serum def: "The amount of a transcription initiation factor IIB when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription initiation factor IIB amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041814 name: level of general transcription factor IIE subunit 1 in blood serum def: "The amount of a general transcription factor IIE subunit 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum general transcription factor IIE subunit 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041815 name: level of general transcription factor IIF subunit 2 in blood serum def: "The amount of a general transcription factor IIF subunit 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum general transcription factor IIF subunit 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041816 name: level of general transcription factor II-I in blood serum def: "The amount of a general transcription factor II-I when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum general transcription factor II-I amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041817 name: level of protein NATD1 in blood serum def: "The amount of a protein NATD1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein NATD1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041818 name: level of GTP-binding protein 10 in blood serum def: "The amount of a GTP-binding protein 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum GTP-binding protein 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041819 name: level of gametocyte-specific factor 1 in blood serum def: "The amount of a gametocyte-specific factor 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum gametocyte-specific factor 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041820 name: level of guanylyl cyclase-activating protein 1 in blood serum def: "The amount of a guanylyl cyclase-activating protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum guanylyl cyclase-activating protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041821 name: level of guanylyl cyclase-activating protein 2 in blood serum def: "The amount of a guanylyl cyclase-activating protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum guanylyl cyclase-activating protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041822 name: level of guanylate cyclase activator 2B in blood serum def: "The amount of a guanylate cyclase activator 2B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum guanylate cyclase activator 2B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041823 name: level of guanylate kinase in blood serum def: "The amount of a guanylate kinase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum guanylate kinase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041824 name: level of beta-glucuronidase in blood serum def: "The amount of a beta-glucuronidase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-glucuronidase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041825 name: level of glycogenin-2 in blood serum def: "The amount of a glycogenin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glycogenin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041826 name: level of gap junction alpha-1 protein in blood serum def: "The amount of a gap junction alpha-1 protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum gap junction alpha-1 protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041827 name: level of histone H1.10 in blood serum def: "The amount of a histone H1.10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum histone H1.10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041828 name: level of core histone macro-H2A.1 in blood serum def: "The amount of a core histone macro-H2A.1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum core histone macro-H2A.1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041829 name: level of GDH/6PGL endoplasmic bifunctional protein in blood serum def: "The amount of a GDH/6PGL endoplasmic bifunctional protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum GDH/6PGL endoplasmic bifunctional protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041830 name: level of hyaluronan-binding protein 2 in blood serum def: "The amount of a hyaluronan-binding protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum hyaluronan-binding protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041831 name: level of intracellular hyaluronan-binding protein 4 in blood serum def: "The amount of a intracellular hyaluronan-binding protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum intracellular hyaluronan-binding protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041832 name: level of 2-hydroxyacyl-CoA lyase 1 in blood serum def: "The amount of a 2-hydroxyacyl-CoA lyase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 2-hydroxyacyl-CoA lyase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041833 name: level of hydroxyacyl-coenzyme A dehydrogenase, mitochondrial in blood serum def: "The amount of a hydroxyacyl-coenzyme A dehydrogenase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum hydroxyacyl-coenzyme A dehydrogenase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041834 name: level of hydroxyacylglutathione hydrolase in blood serum def: "The amount of a hydroxyacylglutathione hydrolase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum hydroxyacylglutathione hydrolase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041835 name: level of hydroxyacylglutathione hydrolase-like protein in blood serum def: "The amount of a hydroxyacylglutathione hydrolase-like protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum hydroxyacylglutathione hydrolase-like protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041836 name: level of 2-hydroxyacid oxidase 1 in blood serum def: "The amount of a 2-hydroxyacid oxidase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 2-hydroxyacid oxidase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041837 name: level of hyaluronan and proteoglycan link protein 4 in blood serum def: "The amount of a hyaluronan and proteoglycan link protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum hyaluronan and proteoglycan link protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041838 name: level of histidyl-tRNA synthetase, cytoplasmic in blood serum def: "The amount of a histidyl-tRNA synthetase, cytoplasmic when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum histidyl-tRNA synthetase, cytoplasmic amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041839 name: level of HCLS1-associated protein X-1 in blood serum def: "The amount of a HCLS1-associated protein X-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum HCLS1-associated protein X-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041840 name: level of hemoglobin subunit delta in blood serum def: "The amount of a hemoglobin subunit delta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum hemoglobin subunit delta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041841 name: level of hemoglobin subunit gamma-2 in blood serum def: "The amount of a hemoglobin subunit gamma-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum hemoglobin subunit gamma-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041842 name: level of hemoglobin subunit theta-1 in blood serum def: "The amount of a hemoglobin subunit theta-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum hemoglobin subunit theta-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041843 name: level of hemoglobin subunit zeta in blood serum def: "The amount of a hemoglobin subunit zeta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum hemoglobin subunit zeta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041844 name: level of holocytochrome c-type synthase in blood serum def: "The amount of a holocytochrome c-type synthase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum holocytochrome c-type synthase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041845 name: level of hematopoietic lineage cell-specific protein in blood serum def: "The amount of a hematopoietic lineage cell-specific protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum hematopoietic lineage cell-specific protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041846 name: level of histone deacetylase 2 in blood serum def: "The amount of a histone deacetylase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum histone deacetylase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041847 name: level of histone deacetylase 4 in blood serum def: "The amount of a histone deacetylase 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum histone deacetylase 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041848 name: level of histone deacetylase 6 in blood serum def: "The amount of a histone deacetylase 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum histone deacetylase 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041849 name: level of hepatoma-derived growth factor in blood serum def: "The amount of a hepatoma-derived growth factor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum hepatoma-derived growth factor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041850 name: level of hepatoma-derived growth factor-like protein 1 in blood serum def: "The amount of a hepatoma-derived growth factor-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum hepatoma-derived growth factor-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041851 name: level of hepatoma-derived growth factor-related protein 3 in blood serum def: "The amount of a hepatoma-derived growth factor-related protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum hepatoma-derived growth factor-related protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041852 name: level of vigilin in blood serum def: "The amount of a vigilin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum vigilin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041853 name: level of heme-binding protein 1 in blood serum def: "The amount of a heme-binding protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum heme-binding protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041854 name: level of E3 ubiquitin-protein ligase HECW1 in blood serum def: "The amount of a E3 ubiquitin-protein ligase HECW1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 ubiquitin-protein ligase HECW1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041855 name: level of E3 ubiquitin-protein ligase HECW2 in blood serum def: "The amount of a E3 ubiquitin-protein ligase HECW2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 ubiquitin-protein ligase HECW2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041856 name: level of hepatocyte cell adhesion molecule in blood serum def: "The amount of a hepatocyte cell adhesion molecule when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum hepatocyte cell adhesion molecule amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041857 name: level of hephaestin in blood serum def: "The amount of a hephaestin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum hephaestin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041858 name: level of ferroxidase HEPHL1 in blood serum def: "The amount of a ferroxidase HEPHL1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ferroxidase HEPHL1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041859 name: level of homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 2 protein in blood serum def: "The amount of a homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 2 protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 2 protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041860 name: level of transcription factor HES-1 in blood serum def: "The amount of a transcription factor HES-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription factor HES-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041861 name: level of transcription factor HES-3 in blood serum def: "The amount of a transcription factor HES-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription factor HES-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041862 name: level of transcription factor HES-5 in blood serum def: "The amount of a transcription factor HES-5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription factor HES-5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041863 name: level of transcription cofactor HES-6 in blood serum def: "The amount of a transcription cofactor HES-6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription cofactor HES-6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041864 name: level of beta-hexosaminidase subunit alpha in blood serum def: "The amount of a beta-hexosaminidase subunit alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-hexosaminidase subunit alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041865 name: level of beta-hexosaminidase subunit beta in blood serum def: "The amount of a beta-hexosaminidase subunit beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-hexosaminidase subunit beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041866 name: level of protein HEXIM1 in blood serum def: "The amount of a protein HEXIM1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein HEXIM1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041867 name: level of protein HEXIM2 in blood serum def: "The amount of a protein HEXIM2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein HEXIM2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041868 name: level of hairy/enhancer-of-split related with YRPW motif protein 1 in blood serum def: "The amount of a hairy/enhancer-of-split related with YRPW motif protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum hairy/enhancer-of-split related with YRPW motif protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041869 name: level of homogentisate 1,2-dioxygenase in blood serum def: "The amount of a homogentisate 1,2-dioxygenase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum homogentisate 1,2-dioxygenase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041870 name: level of hepatocyte growth factor-regulated tyrosine kinase substrate in blood serum def: "The amount of a hepatocyte growth factor-regulated tyrosine kinase substrate when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum hepatocyte growth factor-regulated tyrosine kinase substrate amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041871 name: level of hematopoietically-expressed homeobox protein HHEX in blood serum def: "The amount of a hematopoietically-expressed homeobox protein HHEX when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum hematopoietically-expressed homeobox protein HHEX amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041872 name: level of hedgehog-interacting protein in blood serum def: "The amount of a hedgehog-interacting protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum hedgehog-interacting protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041873 name: level of HERV-H LTR-associating protein 3 in blood serum def: "The amount of a HERV-H LTR-associating protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum HERV-H LTR-associating protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041874 name: level of 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial in blood serum def: "The amount of a 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041875 name: level of hypoxia-inducible factor 1-alpha inhibitor in blood serum def: "The amount of a hypoxia-inducible factor 1-alpha inhibitor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum hypoxia-inducible factor 1-alpha inhibitor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041876 name: level of histidine triad nucleotide-binding protein 2 in blood serum def: "The amount of a histidine triad nucleotide-binding protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum histidine triad nucleotide-binding protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041877 name: level of huntingtin-interacting protein 1-related protein in blood serum def: "The amount of a huntingtin-interacting protein 1-related protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum huntingtin-interacting protein 1-related protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041878 name: level of HIRA-interacting protein 3 in blood serum def: "The amount of a HIRA-interacting protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum HIRA-interacting protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041879 name: level of histone H2A type 1-A in blood serum def: "The amount of a histone H2A type 1-A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum histone H2A type 1-A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041880 name: level of histone H2B type 3-B in blood serum def: "The amount of a histone H2B type 3-B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum histone H2B type 3-B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041881 name: level of MHC class I histocompatibility antigen, alpha chain E in blood serum def: "The amount of a MHC class I histocompatibility antigen, alpha chain E when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum MHC class I histocompatibility antigen, alpha chain E amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041882 name: level of MHC class I histocompatibility antigen, alpha chain G in blood serum def: "The amount of a MHC class I histocompatibility antigen, alpha chain G when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum MHC class I histocompatibility antigen, alpha chain G amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041883 name: level of hepatic leukemia factor in blood serum def: "The amount of a hepatic leukemia factor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum hepatic leukemia factor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041884 name: level of porphobilinogen deaminase in blood serum def: "The amount of a porphobilinogen deaminase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum porphobilinogen deaminase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041885 name: level of high mobility group protein 20A in blood serum def: "The amount of a high mobility group protein 20A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum high mobility group protein 20A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041886 name: level of SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1-related in blood serum def: "The amount of a SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1-related when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1-related amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041887 name: level of high mobility group protein HMG-I/HMG-Y in blood serum def: "The amount of a high mobility group protein HMG-I/HMG-Y when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum high mobility group protein HMG-I/HMG-Y amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041888 name: level of high mobility group protein HMGI-C in blood serum def: "The amount of a high mobility group protein HMGI-C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum high mobility group protein HMGI-C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041889 name: level of high mobility group protein B2 in blood serum def: "The amount of a high mobility group protein B2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum high mobility group protein B2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041890 name: level of high mobility group protein B3 in blood serum def: "The amount of a high mobility group protein B3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum high mobility group protein B3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041891 name: level of hydroxymethylglutaryl-CoA lyase, mitochondrial in blood serum def: "The amount of a hydroxymethylglutaryl-CoA lyase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum hydroxymethylglutaryl-CoA lyase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041892 name: level of hydroxymethylglutaryl-CoA synthase, cytoplasmic in blood serum def: "The amount of a hydroxymethylglutaryl-CoA synthase, cytoplasmic when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum hydroxymethylglutaryl-CoA synthase, cytoplasmic amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041893 name: level of hydroxymethylglutaryl-CoA synthase, mitochondrial in blood serum def: "The amount of a hydroxymethylglutaryl-CoA synthase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum hydroxymethylglutaryl-CoA synthase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041894 name: level of Rho GTPase-activating protein 45 in blood serum def: "The amount of a Rho GTPase-activating protein 45 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Rho GTPase-activating protein 45 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041895 name: level of heme oxygenase 1 in blood serum def: "The amount of a heme oxygenase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum heme oxygenase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041896 name: level of homeobox protein HMX2 in blood serum def: "The amount of a homeobox protein HMX2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum homeobox protein HMX2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041897 name: level of homeobox protein HMX3 in blood serum def: "The amount of a homeobox protein HMX3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum homeobox protein HMX3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041898 name: level of jupiter microtubule associated homolog 1 in blood serum def: "The amount of a jupiter microtubule associated homolog 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum jupiter microtubule associated homolog 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041899 name: level of jupiter microtubule associated homolog 2 in blood serum def: "The amount of a jupiter microtubule associated homolog 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum jupiter microtubule associated homolog 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041900 name: level of hepatocyte nuclear factor 1-alpha in blood serum def: "The amount of a hepatocyte nuclear factor 1-alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum hepatocyte nuclear factor 1-alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041901 name: level of hepatocyte nuclear factor 4-alpha in blood serum def: "The amount of a hepatocyte nuclear factor 4-alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum hepatocyte nuclear factor 4-alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041902 name: level of histamine N-methyltransferase in blood serum def: "The amount of a histamine N-methyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum histamine N-methyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041903 name: level of heterogeneous nuclear ribonucleoprotein A1 in blood serum def: "The amount of a heterogeneous nuclear ribonucleoprotein A1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum heterogeneous nuclear ribonucleoprotein A1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041904 name: level of heterogeneous nuclear ribonucleoproteins C1/C2 in blood serum def: "The amount of a heterogeneous nuclear ribonucleoproteins C1/C2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum heterogeneous nuclear ribonucleoproteins C1/C2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041905 name: level of heterogeneous nuclear ribonucleoprotein D0 in blood serum def: "The amount of a heterogeneous nuclear ribonucleoprotein D0 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum heterogeneous nuclear ribonucleoprotein D0 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041906 name: level of heterogeneous nuclear ribonucleoprotein F in blood serum def: "The amount of a heterogeneous nuclear ribonucleoprotein F when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum heterogeneous nuclear ribonucleoprotein F amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041907 name: level of heterogeneous nuclear ribonucleoprotein H in blood serum def: "The amount of a heterogeneous nuclear ribonucleoprotein H when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum heterogeneous nuclear ribonucleoprotein H amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041908 name: level of heterogeneous nuclear ribonucleoprotein M in blood serum def: "The amount of a heterogeneous nuclear ribonucleoprotein M when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum heterogeneous nuclear ribonucleoprotein M amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041909 name: level of heterogeneous nuclear ribonucleoprotein R in blood serum def: "The amount of a heterogeneous nuclear ribonucleoprotein R when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum heterogeneous nuclear ribonucleoprotein R amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041910 name: level of heterogeneous nuclear ribonucleoprotein D-like in blood serum def: "The amount of a heterogeneous nuclear ribonucleoprotein D-like when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum heterogeneous nuclear ribonucleoprotein D-like amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041911 name: level of heterogeneous nuclear ribonucleoprotein L-like in blood serum def: "The amount of a heterogeneous nuclear ribonucleoprotein L-like when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum heterogeneous nuclear ribonucleoprotein L-like amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041912 name: level of homer protein homolog 1 in blood serum def: "The amount of a homer protein homolog 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum homer protein homolog 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041913 name: level of homer protein homolog 2 in blood serum def: "The amount of a homer protein homolog 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum homer protein homolog 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041914 name: level of homer protein homolog 3 in blood serum def: "The amount of a homer protein homolog 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum homer protein homolog 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041915 name: level of homeodomain-only protein in blood serum def: "The amount of a homeodomain-only protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum homeodomain-only protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041916 name: level of homeobox protein Hox-A5 in blood serum def: "The amount of a homeobox protein Hox-A5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum homeobox protein Hox-A5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041917 name: level of homeobox protein Hox-C11 in blood serum def: "The amount of a homeobox protein Hox-C11 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum homeobox protein Hox-C11 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041918 name: level of homeobox protein Hox-D4 in blood serum def: "The amount of a homeobox protein Hox-D4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum homeobox protein Hox-D4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041919 name: level of haptoglobin in blood serum def: "The amount of a haptoglobin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum haptoglobin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041920 name: level of hippocalcin-like protein 1 in blood serum def: "The amount of a hippocalcin-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum hippocalcin-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041921 name: level of 4-hydroxyphenylpyruvate dioxygenase in blood serum def: "The amount of a 4-hydroxyphenylpyruvate dioxygenase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 4-hydroxyphenylpyruvate dioxygenase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041922 name: level of 15-hydroxyprostaglandin dehydrogenase [NAD(+)] in blood serum def: "The amount of a 15-hydroxyprostaglandin dehydrogenase [NAD(+)] when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 15-hydroxyprostaglandin dehydrogenase [NAD(+)] amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041923 name: level of hypoxanthine-guanine phosphoribosyltransferase in blood serum def: "The amount of a hypoxanthine-guanine phosphoribosyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum hypoxanthine-guanine phosphoribosyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041924 name: level of phospholipase A and acyltransferase 2 in blood serum def: "The amount of a phospholipase A and acyltransferase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phospholipase A and acyltransferase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041925 name: level of phospholipase A and acyltransferase 3 in blood serum def: "The amount of a phospholipase A and acyltransferase 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phospholipase A and acyltransferase 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041926 name: level of sarcoplasmic reticulum histidine-rich calcium-binding protein in blood serum def: "The amount of a sarcoplasmic reticulum histidine-rich calcium-binding protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sarcoplasmic reticulum histidine-rich calcium-binding protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041927 name: level of activator of apoptosis harakiri in blood serum def: "The amount of a activator of apoptosis harakiri when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum activator of apoptosis harakiri amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041928 name: level of 2-iminobutanoate/2-iminopropanoate deaminase in blood serum def: "The amount of a 2-iminobutanoate/2-iminopropanoate deaminase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 2-iminobutanoate/2-iminopropanoate deaminase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041929 name: level of heparan sulfate 2-O-sulfotransferase 1 in blood serum def: "The amount of a heparan sulfate 2-O-sulfotransferase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum heparan sulfate 2-O-sulfotransferase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041930 name: level of heparan sulfate glucosamine 3-O-sulfotransferase 1 in blood serum def: "The amount of a heparan sulfate glucosamine 3-O-sulfotransferase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum heparan sulfate glucosamine 3-O-sulfotransferase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041931 name: level of heparan sulfate glucosamine 3-O-sulfotransferase 3A1 in blood serum def: "The amount of a heparan sulfate glucosamine 3-O-sulfotransferase 3A1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum heparan sulfate glucosamine 3-O-sulfotransferase 3A1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041932 name: level of heparan sulfate glucosamine 3-O-sulfotransferase 3B1 in blood serum def: "The amount of a heparan sulfate glucosamine 3-O-sulfotransferase 3B1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum heparan sulfate glucosamine 3-O-sulfotransferase 3B1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041933 name: level of heparan sulfate glucosamine 3-O-sulfotransferase 4 in blood serum def: "The amount of a heparan sulfate glucosamine 3-O-sulfotransferase 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum heparan sulfate glucosamine 3-O-sulfotransferase 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041934 name: level of heparan sulfate glucosamine 3-O-sulfotransferase 5 in blood serum def: "The amount of a heparan sulfate glucosamine 3-O-sulfotransferase 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum heparan sulfate glucosamine 3-O-sulfotransferase 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041935 name: level of heparan-sulfate 6-O-sulfotransferase 2 in blood serum def: "The amount of a heparan-sulfate 6-O-sulfotransferase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum heparan-sulfate 6-O-sulfotransferase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041936 name: level of heparan-sulfate 6-O-sulfotransferase 3 in blood serum def: "The amount of a heparan-sulfate 6-O-sulfotransferase 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum heparan-sulfate 6-O-sulfotransferase 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041937 name: level of iron-sulfur cluster co-chaperone protein HscB in blood serum def: "The amount of a iron-sulfur cluster co-chaperone protein HscB when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum iron-sulfur cluster co-chaperone protein HscB amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041938 name: level of 11-beta-hydroxysteroid dehydrogenase 1 in blood serum def: "The amount of a 11-beta-hydroxysteroid dehydrogenase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 11-beta-hydroxysteroid dehydrogenase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041939 name: level of estradiol 17-beta-dehydrogenase 11 in blood serum def: "The amount of a estradiol 17-beta-dehydrogenase 11 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum estradiol 17-beta-dehydrogenase 11 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041940 name: level of 17-beta-hydroxysteroid dehydrogenase 14 in blood serum def: "The amount of a 17-beta-hydroxysteroid dehydrogenase 14 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 17-beta-hydroxysteroid dehydrogenase 14 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041941 name: level of hydroxysteroid dehydrogenase-like protein 2 in blood serum def: "The amount of a hydroxysteroid dehydrogenase-like protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum hydroxysteroid dehydrogenase-like protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041942 name: level of heat shock factor 2-binding protein in blood serum def: "The amount of a heat shock factor 2-binding protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum heat shock factor 2-binding protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041943 name: level of hematopoietic SH2 domain-containing protein in blood serum def: "The amount of a hematopoietic SH2 domain-containing protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum hematopoietic SH2 domain-containing protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041944 name: level of heat shock protein HSP 90-alpha in blood serum def: "The amount of a heat shock protein HSP 90-alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum heat shock protein HSP 90-alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041945 name: level of endoplasmin in blood serum def: "The amount of a endoplasmin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum endoplasmin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041946 name: level of heat shock 70 kDa protein 13 in blood serum def: "The amount of a heat shock 70 kDa protein 13 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum heat shock 70 kDa protein 13 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041947 name: level of heat shock-related 70 kDa protein 2 in blood serum def: "The amount of a heat shock-related 70 kDa protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum heat shock-related 70 kDa protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041948 name: level of heat shock 70 kDa protein 6 in blood serum def: "The amount of a heat shock 70 kDa protein 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum heat shock 70 kDa protein 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041949 name: level of stress-70 protein, mitochondrial in blood serum def: "The amount of a stress-70 protein, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum stress-70 protein, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041950 name: level of heat shock protein beta-3 in blood serum def: "The amount of a heat shock protein beta-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum heat shock protein beta-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041951 name: level of heat shock protein beta-6 in blood serum def: "The amount of a heat shock protein beta-6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum heat shock protein beta-6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041952 name: level of Hsp70-binding protein 1 in blood serum def: "The amount of a Hsp70-binding protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Hsp70-binding protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041953 name: level of 10 kDa heat shock protein, mitochondrial in blood serum def: "The amount of a 10 kDa heat shock protein, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 10 kDa heat shock protein, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041954 name: level of basement membrane-specific heparan sulfate proteoglycan core protein in blood serum def: "The amount of a basement membrane-specific heparan sulfate proteoglycan core protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum basement membrane-specific heparan sulfate proteoglycan core protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041955 name: level of histone acetyltransferase KAT5 in blood serum def: "The amount of a histone acetyltransferase KAT5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum histone acetyltransferase KAT5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041956 name: level of oxidoreductase HTATIP2 in blood serum def: "The amount of a oxidoreductase HTATIP2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum oxidoreductase HTATIP2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041957 name: level of histatin-1 in blood serum def: "The amount of a histatin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum histatin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041958 name: level of histatin-3 in blood serum def: "The amount of a histatin-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum histatin-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041959 name: level of serine protease HTRA1 in blood serum def: "The amount of a serine protease HTRA1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine protease HTRA1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041960 name: level of checkpoint protein HUS1 in blood serum def: "The amount of a checkpoint protein HUS1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum checkpoint protein HUS1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041961 name: level of hyaluronidase-1 in blood serum def: "The amount of a hyaluronidase-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum hyaluronidase-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041962 name: level of hyaluronidase-4 in blood serum def: "The amount of a hyaluronidase-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum hyaluronidase-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041963 name: level of hypoxia up-regulated protein 1 in blood serum def: "The amount of a hypoxia up-regulated protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum hypoxia up-regulated protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041964 name: level of huntingtin-interacting protein K in blood serum def: "The amount of a huntingtin-interacting protein K when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum huntingtin-interacting protein K amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041965 name: level of islet amyloid polypeptide in blood serum def: "The amount of a islet amyloid polypeptide when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum islet amyloid polypeptide amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041966 name: level of isoleucine--tRNA ligase, cytoplasmic in blood serum def: "The amount of a isoleucine--tRNA ligase, cytoplasmic when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum isoleucine--tRNA ligase, cytoplasmic amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041967 name: level of magnesium transporter NIPA4 in blood serum def: "The amount of a magnesium transporter NIPA4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum magnesium transporter NIPA4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041968 name: level of immature colon carcinoma transcript 1 protein in blood serum def: "The amount of a immature colon carcinoma transcript 1 protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum immature colon carcinoma transcript 1 protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041969 name: level of isocitrate dehydrogenase [NADP] cytoplasmic in blood serum def: "The amount of a isocitrate dehydrogenase [NADP] cytoplasmic when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum isocitrate dehydrogenase [NADP] cytoplasmic amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041970 name: level of isocitrate dehydrogenase [NAD] subunit gamma, mitochondrial in blood serum def: "The amount of a isocitrate dehydrogenase [NAD] subunit gamma, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum isocitrate dehydrogenase [NAD] subunit gamma, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041971 name: level of isopentenyl-diphosphate Delta-isomerase 1 in blood serum def: "The amount of a isopentenyl-diphosphate Delta-isomerase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum isopentenyl-diphosphate Delta-isomerase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041972 name: level of isopentenyl-diphosphate Delta-isomerase 2 in blood serum def: "The amount of a isopentenyl-diphosphate Delta-isomerase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum isopentenyl-diphosphate Delta-isomerase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041973 name: level of immediate early response gene 2 protein in blood serum def: "The amount of a immediate early response gene 2 protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum immediate early response gene 2 protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041974 name: level of radiation-inducible immediate-early gene IEX-1 in blood serum def: "The amount of a radiation-inducible immediate-early gene IEX-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum radiation-inducible immediate-early gene IEX-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041975 name: level of interferon-induced helicase C domain-containing protein 1 in blood serum def: "The amount of a interferon-induced helicase C domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interferon-induced helicase C domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041976 name: level of interferon alpha-14 in blood serum def: "The amount of a interferon alpha-14 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interferon alpha-14 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041977 name: level of interferon alpha-16 in blood serum def: "The amount of a interferon alpha-16 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interferon alpha-16 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041978 name: level of interferon alpha-21 in blood serum def: "The amount of a interferon alpha-21 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interferon alpha-21 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041979 name: level of interferon alpha-4 in blood serum def: "The amount of a interferon alpha-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interferon alpha-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041980 name: level of interferon alpha-5 in blood serum def: "The amount of a interferon alpha-5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interferon alpha-5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041981 name: level of interferon alpha-6 in blood serum def: "The amount of a interferon alpha-6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interferon alpha-6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041982 name: level of interferon alpha-8 in blood serum def: "The amount of a interferon alpha-8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interferon alpha-8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041983 name: level of interferon beta 1 in blood serum def: "The amount of a interferon beta 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interferon beta 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041984 name: level of interferon epsilon in blood serum def: "The amount of a interferon epsilon when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interferon epsilon amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041985 name: level of interferon omega-1 in blood serum def: "The amount of a interferon omega-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interferon omega-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041986 name: level of interferon-related developmental regulator 1 in blood serum def: "The amount of a interferon-related developmental regulator 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interferon-related developmental regulator 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041987 name: level of intraflagellar transport protein 20 in blood serum def: "The amount of a intraflagellar transport protein 20 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum intraflagellar transport protein 20 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041988 name: level of immunoglobulin-binding protein 1 in blood serum def: "The amount of a immunoglobulin-binding protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum immunoglobulin-binding protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041989 name: level of insulin-like growth factor-binding protein complex acid labile chain in blood serum def: "The amount of a insulin-like growth factor-binding protein complex acid labile chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum insulin-like growth factor-binding protein complex acid labile chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041990 name: level of insulin-like growth factor-binding protein 3 in blood serum def: "The amount of a insulin-like growth factor-binding protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum insulin-like growth factor-binding protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041991 name: level of insulin-like growth factor-binding protein-like 1 in blood serum def: "The amount of a insulin-like growth factor-binding protein-like 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum insulin-like growth factor-binding protein-like 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041992 name: level of immunoglobulin heavy constant alpha 1 in blood serum def: "The amount of a immunoglobulin heavy constant alpha 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum immunoglobulin heavy constant alpha 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041993 name: level of immunoglobulin heavy constant alpha 2 in blood serum def: "The amount of a immunoglobulin heavy constant alpha 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum immunoglobulin heavy constant alpha 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041994 name: level of immunoglobulin heavy constant gamma 2 in blood serum def: "The amount of a immunoglobulin heavy constant gamma 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum immunoglobulin heavy constant gamma 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041995 name: level of immunoglobulin heavy constant gamma 4 in blood serum def: "The amount of a immunoglobulin heavy constant gamma 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum immunoglobulin heavy constant gamma 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041996 name: level of immunoglobulin J chain in blood serum def: "The amount of a immunoglobulin J chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum immunoglobulin J chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041997 name: level of protein turtle homolog B in blood serum def: "The amount of a protein turtle homolog B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein turtle homolog B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041998 name: level of Indian hedgehog protein in blood serum def: "The amount of a Indian hedgehog protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Indian hedgehog protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2041999 name: level of protein Red in blood serum def: "The amount of a protein Red when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein Red amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042000 name: level of elongator complex protein 1 in blood serum def: "The amount of a elongator complex protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum elongator complex protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042001 name: level of interleukin-15 receptor subunit alpha in blood serum def: "The amount of a interleukin-15 receptor subunit alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-15 receptor subunit alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042002 name: level of interleukin-17 receptor B in blood serum def: "The amount of a interleukin-17 receptor B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-17 receptor B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042003 name: level of interleukin-17 receptor D in blood serum def: "The amount of a interleukin-17 receptor D when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-17 receptor D amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042004 name: level of interleukin-17 receptor E in blood serum def: "The amount of a interleukin-17 receptor E when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-17 receptor E amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042005 name: level of interleukin-1 family member 10 in blood serum def: "The amount of a interleukin-1 family member 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-1 family member 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042006 name: level of interleukin-1 family member 5 in blood serum def: "The amount of a interleukin-1 family member 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-1 family member 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042007 name: level of interleukin-1 family member 9 in blood serum def: "The amount of a interleukin-1 family member 9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-1 family member 9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042008 name: level of interleukin-1 receptor accessory protein in blood serum def: "The amount of a interleukin-1 receptor accessory protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-1 receptor accessory protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042009 name: level of interleukin-1 receptor accessory protein-like 1 in blood serum def: "The amount of a interleukin-1 receptor accessory protein-like 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-1 receptor accessory protein-like 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042011 name: level of interleukin-1 receptor-like 2 in blood serum def: "The amount of a interleukin-1 receptor-like 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-1 receptor-like 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042012 name: level of interleukin-20 receptor subunit beta in blood serum def: "The amount of a interleukin-20 receptor subunit beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-20 receptor subunit beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042013 name: level of interleukin-23 receptor in blood serum def: "The amount of a interleukin-23 receptor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-23 receptor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042014 name: level of interleukin-27 receptor subunit alpha in blood serum def: "The amount of a interleukin-27 receptor subunit alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-27 receptor subunit alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042015 name: level of interleukin-28 receptor alpha chain in blood serum def: "The amount of a interleukin-28 receptor alpha chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-28 receptor alpha chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042016 name: level of interleukin-31 receptor A in blood serum def: "The amount of a interleukin-31 receptor A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin-31 receptor A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042017 name: level of interleukin enhancer-binding factor 2 in blood serum def: "The amount of a interleukin enhancer-binding factor 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin enhancer-binding factor 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042018 name: level of interleukin enhancer-binding factor 3 in blood serum def: "The amount of a interleukin enhancer-binding factor 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interleukin enhancer-binding factor 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042019 name: level of integrin-linked kinase-associated serine/threonine phosphatase 2C in blood serum def: "The amount of a integrin-linked kinase-associated serine/threonine phosphatase 2C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum integrin-linked kinase-associated serine/threonine phosphatase 2C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042020 name: level of mitochondrial inner membrane protease subunit 2 in blood serum def: "The amount of a mitochondrial inner membrane protease subunit 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mitochondrial inner membrane protease subunit 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042021 name: level of inositol monophosphatase 1 in blood serum def: "The amount of a inositol monophosphatase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum inositol monophosphatase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042022 name: level of inositol monophosphatase 2 in blood serum def: "The amount of a inositol monophosphatase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum inositol monophosphatase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042023 name: level of protein IMPACT in blood serum def: "The amount of a protein IMPACT when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein IMPACT amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042024 name: level of Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase in blood serum def: "The amount of a Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042025 name: level of alpha-internexin in blood serum def: "The amount of a alpha-internexin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-internexin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042026 name: level of indoleamine 2,3-dioxygenase 1 in blood serum def: "The amount of a indoleamine 2,3-dioxygenase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum indoleamine 2,3-dioxygenase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042027 name: level of inhibitor of growth protein 4 in blood serum def: "The amount of a inhibitor of growth protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum inhibitor of growth protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042028 name: level of INO80 complex subunit E in blood serum def: "The amount of a INO80 complex subunit E when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum INO80 complex subunit E amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042029 name: level of inositol polyphosphate-4-phosphatase type I A in blood serum def: "The amount of a inositol polyphosphate-4-phosphatase type I A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum inositol polyphosphate-4-phosphatase type I A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042030 name: level of inositol polyphosphate 4-phosphatase type II in blood serum def: "The amount of a inositol polyphosphate 4-phosphatase type II when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum inositol polyphosphate 4-phosphatase type II amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042031 name: level of inositol polyphosphate-5-phosphatase A in blood serum def: "The amount of a inositol polyphosphate-5-phosphatase A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum inositol polyphosphate-5-phosphatase A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042032 name: level of phosphatidylinositide phosphatase SAC2 in blood serum def: "The amount of a phosphatidylinositide phosphatase SAC2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphatidylinositide phosphatase SAC2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042033 name: level of insulin-induced gene 1 protein in blood serum def: "The amount of a insulin-induced gene 1 protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum insulin-induced gene 1 protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042034 name: level of insulin-like 3 in blood serum def: "The amount of a insulin-like 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum insulin-like 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042035 name: level of early placenta insulin-like peptide in blood serum def: "The amount of a early placenta insulin-like peptide when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum early placenta insulin-like peptide amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042036 name: level of insulin-like peptide INSL5 in blood serum def: "The amount of a insulin-like peptide INSL5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum insulin-like peptide INSL5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042037 name: level of insulin-like peptide INSL6 in blood serum def: "The amount of a insulin-like peptide INSL6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum insulin-like peptide INSL6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042038 name: level of insulin receptor-related protein in blood serum def: "The amount of a insulin receptor-related protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum insulin receptor-related protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042039 name: level of integrator complex subunit 3 in blood serum def: "The amount of a integrator complex subunit 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum integrator complex subunit 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042040 name: level of inositol hexakisphosphate kinase 1 in blood serum def: "The amount of a inositol hexakisphosphate kinase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum inositol hexakisphosphate kinase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042041 name: level of inositol hexakisphosphate kinase 2 in blood serum def: "The amount of a inositol hexakisphosphate kinase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum inositol hexakisphosphate kinase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042042 name: level of iron-sulfur cluster assembly enzyme ISCU in blood serum def: "The amount of a iron-sulfur cluster assembly enzyme ISCU when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum iron-sulfur cluster assembly enzyme ISCU amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042043 name: level of insulin gene enhancer protein ISL-1 in blood serum def: "The amount of a insulin gene enhancer protein ISL-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum insulin gene enhancer protein ISL-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042044 name: level of isthmin-1 in blood serum def: "The amount of a isthmin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum isthmin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042045 name: level of integrin alpha-11 in blood serum def: "The amount of a integrin alpha-11 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum integrin alpha-11 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042046 name: level of integrin alpha-4 in blood serum def: "The amount of a integrin alpha-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum integrin alpha-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042047 name: level of integrin alpha-5 in blood serum def: "The amount of a integrin alpha-5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum integrin alpha-5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042048 name: level of integrin alpha-6 in blood serum def: "The amount of a integrin alpha-6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum integrin alpha-6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042049 name: level of integrin alpha-V in blood serum def: "The amount of a integrin alpha-V when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum integrin alpha-V amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042050 name: level of integrin beta-1-binding protein 2 in blood serum def: "The amount of a integrin beta-1-binding protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum integrin beta-1-binding protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042051 name: level of nicotinamide riboside kinase 2 in blood serum def: "The amount of a nicotinamide riboside kinase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nicotinamide riboside kinase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042052 name: level of integrin beta-5 in blood serum def: "The amount of a integrin beta-5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum integrin beta-5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042053 name: level of integrin beta-6 in blood serum def: "The amount of a integrin beta-6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum integrin beta-6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042054 name: level of integrin beta-7 in blood serum def: "The amount of a integrin beta-7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum integrin beta-7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042055 name: level of integrin beta-8 in blood serum def: "The amount of a integrin beta-8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum integrin beta-8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042056 name: level of inter-alpha-trypsin inhibitor heavy chain H1 in blood serum def: "The amount of a inter-alpha-trypsin inhibitor heavy chain H1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum inter-alpha-trypsin inhibitor heavy chain H1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042057 name: level of inter-alpha-trypsin inhibitor heavy chain H2 in blood serum def: "The amount of a inter-alpha-trypsin inhibitor heavy chain H2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum inter-alpha-trypsin inhibitor heavy chain H2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042058 name: level of inter-alpha-trypsin inhibitor heavy chain H3 in blood serum def: "The amount of a inter-alpha-trypsin inhibitor heavy chain H3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum inter-alpha-trypsin inhibitor heavy chain H3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042059 name: level of inter-alpha-trypsin inhibitor heavy chain H5 in blood serum def: "The amount of a inter-alpha-trypsin inhibitor heavy chain H5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum inter-alpha-trypsin inhibitor heavy chain H5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042060 name: level of inosine triphosphate pyrophosphatase in blood serum def: "The amount of a inosine triphosphate pyrophosphatase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum inosine triphosphate pyrophosphatase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042061 name: level of inositol-tetrakisphosphate 1-kinase in blood serum def: "The amount of a inositol-tetrakisphosphate 1-kinase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum inositol-tetrakisphosphate 1-kinase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042062 name: level of inositol-trisphosphate 3-kinase A in blood serum def: "The amount of a inositol-trisphosphate 3-kinase A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum inositol-trisphosphate 3-kinase A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042063 name: level of inositol-trisphosphate 3-kinase C in blood serum def: "The amount of a inositol-trisphosphate 3-kinase C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum inositol-trisphosphate 3-kinase C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042064 name: level of inositol 1,4,5-trisphosphate receptor-interacting protein-like 1 in blood serum def: "The amount of a inositol 1,4,5-trisphosphate receptor-interacting protein-like 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum inositol 1,4,5-trisphosphate receptor-interacting protein-like 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042065 name: level of intersectin-1 in blood serum def: "The amount of a intersectin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum intersectin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042066 name: level of isovaleryl-CoA dehydrogenase, mitochondrial in blood serum def: "The amount of a isovaleryl-CoA dehydrogenase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum isovaleryl-CoA dehydrogenase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042067 name: level of insulin-like growth factor I in blood serum def: "The amount of a insulin-like growth factor I when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum insulin-like growth factor I amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount relationship: characteristic_of PR:000009182 ! insulin-like growth factor I [Term] id: OBA:2042068 name: level of Janus kinase and microtubule-interacting protein 3 in blood serum def: "The amount of a Janus kinase and microtubule-interacting protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Janus kinase and microtubule-interacting protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042069 name: level of protein Jumonji in blood serum def: "The amount of a protein Jumonji when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein Jumonji amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042070 name: level of Jun dimerization protein 2 in blood serum def: "The amount of a Jun dimerization protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Jun dimerization protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042071 name: level of lysine-specific demethylase 4C in blood serum def: "The amount of a lysine-specific demethylase 4C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lysine-specific demethylase 4C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042072 name: level of bifunctional arginine demethylase and lysyl-hydroxylase JMJD6 in blood serum def: "The amount of a bifunctional arginine demethylase and lysyl-hydroxylase JMJD6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum bifunctional arginine demethylase and lysyl-hydroxylase JMJD6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042073 name: level of josephin-1 in blood serum def: "The amount of a josephin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum josephin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042074 name: level of junctophilin-1 in blood serum def: "The amount of a junctophilin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum junctophilin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042075 name: level of junctophilin-3 in blood serum def: "The amount of a junctophilin-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum junctophilin-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042076 name: level of junctophilin-4 in blood serum def: "The amount of a junctophilin-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum junctophilin-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042077 name: level of protein JTB in blood serum def: "The amount of a protein JTB when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein JTB amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042078 name: level of transcription factor JunD in blood serum def: "The amount of a transcription factor JunD when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription factor JunD amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042079 name: level of junction plakoglobin in blood serum def: "The amount of a junction plakoglobin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum junction plakoglobin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042080 name: level of kidney-associated antigen 1 in blood serum def: "The amount of a kidney-associated antigen 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum kidney-associated antigen 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042081 name: level of anosmin-1 in blood serum def: "The amount of a anosmin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum anosmin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042082 name: level of eukaryotic-type lysine--tRNA ligase in blood serum def: "The amount of a eukaryotic-type lysine--tRNA ligase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum eukaryotic-type lysine--tRNA ligase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042083 name: level of katanin p60 ATPase-containing subunit A-like 1 in blood serum def: "The amount of a katanin p60 ATPase-containing subunit A-like 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum katanin p60 ATPase-containing subunit A-like 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042084 name: level of Kazal-type serine protease inhibitor domain-containing protein 1 in blood serum def: "The amount of a Kazal-type serine protease inhibitor domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Kazal-type serine protease inhibitor domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042085 name: level of kelch-like protein 41 in blood serum def: "The amount of a kelch-like protein 41 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum kelch-like protein 41 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042086 name: level of voltage-gated potassium channel subunit beta-2 in blood serum def: "The amount of a voltage-gated potassium channel subunit beta-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum voltage-gated potassium channel subunit beta-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042087 name: level of voltage-gated potassium channel subunit beta-3 in blood serum def: "The amount of a voltage-gated potassium channel subunit beta-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum voltage-gated potassium channel subunit beta-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042088 name: level of potassium voltage-gated channel subfamily E member 3 in blood serum def: "The amount of a potassium voltage-gated channel subfamily E member 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum potassium voltage-gated channel subfamily E member 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042089 name: level of Kv channel-interacting protein 1 in blood serum def: "The amount of a Kv channel-interacting protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Kv channel-interacting protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042090 name: level of calsenilin in blood serum def: "The amount of a calsenilin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calsenilin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042091 name: level of calcium-activated potassium channel subunit beta-3 in blood serum def: "The amount of a calcium-activated potassium channel subunit beta-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calcium-activated potassium channel subunit beta-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042092 name: level of keratocan in blood serum def: "The amount of a keratocan when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum keratocan amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042093 name: level of KH domain-containing, RNA-binding, signal transduction-associated protein 2 in blood serum def: "The amount of a KH domain-containing, RNA-binding, signal transduction-associated protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum KH domain-containing, RNA-binding, signal transduction-associated protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042094 name: level of ketohexokinase in blood serum def: "The amount of a ketohexokinase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ketohexokinase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042095 name: level of far upstream element-binding protein 2 in blood serum def: "The amount of a far upstream element-binding protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum far upstream element-binding protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042096 name: level of kinesin-like protein KIF16B in blood serum def: "The amount of a kinesin-like protein KIF16B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum kinesin-like protein KIF16B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042097 name: level of kinesin-like protein KIF1C in blood serum def: "The amount of a kinesin-like protein KIF1C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum kinesin-like protein KIF1C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042098 name: level of kinesin-like protein KIF22 in blood serum def: "The amount of a kinesin-like protein KIF22 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum kinesin-like protein KIF22 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042099 name: level of kinesin-like protein KIF3A in blood serum def: "The amount of a kinesin-like protein KIF3A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum kinesin-like protein KIF3A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042100 name: level of kinesin-like protein KIF3B in blood serum def: "The amount of a kinesin-like protein KIF3B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum kinesin-like protein KIF3B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042101 name: level of kinesin-like protein KIF3C in blood serum def: "The amount of a kinesin-like protein KIF3C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum kinesin-like protein KIF3C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042102 name: level of DNA/RNA-binding protein KIN17 in blood serum def: "The amount of a DNA/RNA-binding protein KIN17 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA/RNA-binding protein KIN17 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042103 name: level of killer cell immunoglobulin-like receptor 2DL1 in blood serum def: "The amount of a killer cell immunoglobulin-like receptor 2DL1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum killer cell immunoglobulin-like receptor 2DL1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042104 name: level of killer cell immunoglobulin-like receptor 2DL2 in blood serum def: "The amount of a killer cell immunoglobulin-like receptor 2DL2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum killer cell immunoglobulin-like receptor 2DL2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042105 name: level of killer cell immunoglobulin-like receptor 2DL3 in blood serum def: "The amount of a killer cell immunoglobulin-like receptor 2DL3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum killer cell immunoglobulin-like receptor 2DL3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042106 name: level of killer cell immunoglobulin-like receptor 2DL5A in blood serum def: "The amount of a killer cell immunoglobulin-like receptor 2DL5A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum killer cell immunoglobulin-like receptor 2DL5A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042107 name: level of killer cell immunoglobulin-like receptor 2DS2 in blood serum def: "The amount of a killer cell immunoglobulin-like receptor 2DS2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum killer cell immunoglobulin-like receptor 2DS2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042108 name: level of killer cell immunoglobulin-like receptor 2DS4 in blood serum def: "The amount of a killer cell immunoglobulin-like receptor 2DS4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum killer cell immunoglobulin-like receptor 2DS4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042109 name: level of killer cell immunoglobulin-like receptor 3DL1 in blood serum def: "The amount of a killer cell immunoglobulin-like receptor 3DL1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum killer cell immunoglobulin-like receptor 3DL1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042110 name: level of kin of IRRE-like protein 1 in blood serum def: "The amount of a kin of IRRE-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum kin of IRRE-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042111 name: level of kin of IRRE-like protein 2 in blood serum def: "The amount of a kin of IRRE-like protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum kin of IRRE-like protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042112 name: level of metastasis-suppressor KiSS-1 in blood serum def: "The amount of a metastasis-suppressor KiSS-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum metastasis-suppressor KiSS-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042113 name: level of Kita-kyushu lung cancer antigen 1 in blood serum def: "The amount of a Kita-kyushu lung cancer antigen 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Kita-kyushu lung cancer antigen 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042114 name: level of klotho in blood serum def: "The amount of a klotho when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum klotho amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042115 name: level of beta-klotho in blood serum def: "The amount of a beta-klotho when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-klotho amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042116 name: level of kinesin light chain 1 in blood serum def: "The amount of a kinesin light chain 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum kinesin light chain 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042117 name: level of kinesin light chain 3 in blood serum def: "The amount of a kinesin light chain 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum kinesin light chain 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042118 name: level of krueppel-like factor 4 in blood serum def: "The amount of a krueppel-like factor 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum krueppel-like factor 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042119 name: level of krueppel-like factor 9 in blood serum def: "The amount of a krueppel-like factor 9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum krueppel-like factor 9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042120 name: level of kelch-like protein 12 in blood serum def: "The amount of a kelch-like protein 12 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum kelch-like protein 12 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042121 name: level of kelch-like protein 13 in blood serum def: "The amount of a kelch-like protein 13 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum kelch-like protein 13 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042122 name: level of kelch-like protein 14 in blood serum def: "The amount of a kelch-like protein 14 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum kelch-like protein 14 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042123 name: level of kelch-like protein 2 in blood serum def: "The amount of a kelch-like protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum kelch-like protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042124 name: level of kelch-like protein 3 in blood serum def: "The amount of a kelch-like protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum kelch-like protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042125 name: level of kelch-like protein 7 in blood serum def: "The amount of a kelch-like protein 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum kelch-like protein 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042126 name: level of kallikrein-10 in blood serum def: "The amount of a kallikrein-10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum kallikrein-10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042127 name: level of kallikrein-15 in blood serum def: "The amount of a kallikrein-15 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum kallikrein-15 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042128 name: level of kallikrein-6 in blood serum def: "The amount of a kallikrein-6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum kallikrein-6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042129 name: level of kallikrein-9 in blood serum def: "The amount of a kallikrein-9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum kallikrein-9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042130 name: level of NKG2-F type II integral membrane protein in blood serum def: "The amount of a NKG2-F type II integral membrane protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NKG2-F type II integral membrane protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042131 name: level of kynurenine 3-monooxygenase in blood serum def: "The amount of a kynurenine 3-monooxygenase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum kynurenine 3-monooxygenase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042132 name: level of importin subunit alpha-5 in blood serum def: "The amount of a importin subunit alpha-5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum importin subunit alpha-5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042133 name: level of importin subunit alpha-3 in blood serum def: "The amount of a importin subunit alpha-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum importin subunit alpha-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042134 name: level of importin subunit alpha-6 in blood serum def: "The amount of a importin subunit alpha-6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum importin subunit alpha-6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042135 name: level of importin subunit alpha-7 in blood serum def: "The amount of a importin subunit alpha-7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum importin subunit alpha-7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042136 name: level of Kremen protein 1 in blood serum def: "The amount of a Kremen protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Kremen protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042137 name: level of keratin, type II cytoskeletal 1 in blood serum def: "The amount of a keratin, type II cytoskeletal 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum keratin, type II cytoskeletal 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042138 name: level of keratin, type I cytoskeletal 14 in blood serum def: "The amount of a keratin, type I cytoskeletal 14 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum keratin, type I cytoskeletal 14 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042139 name: level of keratin, type I cytoskeletal 16 in blood serum def: "The amount of a keratin, type I cytoskeletal 16 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum keratin, type I cytoskeletal 16 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042140 name: level of keratin, type I cytoskeletal 17 in blood serum def: "The amount of a keratin, type I cytoskeletal 17 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum keratin, type I cytoskeletal 17 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042141 name: level of keratin, type I cytoskeletal 19 in blood serum def: "The amount of a keratin, type I cytoskeletal 19 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum keratin, type I cytoskeletal 19 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042142 name: level of keratin, type I cytoskeletal 20 in blood serum def: "The amount of a keratin, type I cytoskeletal 20 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum keratin, type I cytoskeletal 20 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042143 name: level of keratin, type I cuticular Ha4 in blood serum def: "The amount of a keratin, type I cuticular Ha4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum keratin, type I cuticular Ha4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042144 name: level of keratin, type II cytoskeletal 5 in blood serum def: "The amount of a keratin, type II cytoskeletal 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum keratin, type II cytoskeletal 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042145 name: level of keratin, type II cytoskeletal 6A in blood serum def: "The amount of a keratin, type II cytoskeletal 6A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum keratin, type II cytoskeletal 6A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042146 name: level of keratin, type II cytoskeletal 7 in blood serum def: "The amount of a keratin, type II cytoskeletal 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum keratin, type II cytoskeletal 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042147 name: level of keratin, type II cytoskeletal 71 in blood serum def: "The amount of a keratin, type II cytoskeletal 71 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum keratin, type II cytoskeletal 71 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042148 name: level of keratin, type II cytoskeletal 72 in blood serum def: "The amount of a keratin, type II cytoskeletal 72 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum keratin, type II cytoskeletal 72 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042149 name: level of keratin-associated protein 2-4 in blood serum def: "The amount of a keratin-associated protein 2-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum keratin-associated protein 2-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042150 name: level of protein O-glucosyltransferase 1 in blood serum def: "The amount of a protein O-glucosyltransferase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein O-glucosyltransferase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042151 name: level of protein KTI12 in blood serum def: "The amount of a protein KTI12 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein KTI12 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042152 name: level of KIF-binding protein in blood serum def: "The amount of a KIF-binding protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum KIF-binding protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042153 name: level of lethal(3)malignant brain tumor-like protein 2 in blood serum def: "The amount of a lethal(3)malignant brain tumor-like protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lethal(3)malignant brain tumor-like protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042154 name: level of endoribonuclease LACTB2 in blood serum def: "The amount of a endoribonuclease LACTB2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum endoribonuclease LACTB2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042155 name: level of ladinin-1 in blood serum def: "The amount of a ladinin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ladinin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042156 name: level of laminin subunit alpha-2 in blood serum def: "The amount of a laminin subunit alpha-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum laminin subunit alpha-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042157 name: level of laminin subunit alpha-3 in blood serum def: "The amount of a laminin subunit alpha-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum laminin subunit alpha-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042158 name: level of laminin subunit alpha-4 in blood serum def: "The amount of a laminin subunit alpha-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum laminin subunit alpha-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042159 name: level of laminin subunit gamma-1 in blood serum def: "The amount of a laminin subunit gamma-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum laminin subunit gamma-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042160 name: level of laminin subunit gamma-2 in blood serum def: "The amount of a laminin subunit gamma-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum laminin subunit gamma-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042161 name: level of glutathione S-transferase LANCL1 in blood serum def: "The amount of a glutathione S-transferase LANCL1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutathione S-transferase LANCL1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042162 name: level of LanC-like protein 2 in blood serum def: "The amount of a LanC-like protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum LanC-like protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042163 name: level of cytosol aminopeptidase in blood serum def: "The amount of a cytosol aminopeptidase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cytosol aminopeptidase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042164 name: level of xylosyl- and glucuronyltransferase LARGE1 in blood serum def: "The amount of a xylosyl- and glucuronyltransferase LARGE1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum xylosyl- and glucuronyltransferase LARGE1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042165 name: level of LIM and SH3 domain protein 1 in blood serum def: "The amount of a LIM and SH3 domain protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum LIM and SH3 domain protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042166 name: level of ceramide synthase 5 in blood serum def: "The amount of a ceramide synthase 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ceramide synthase 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042167 name: level of linker for activation of T-cells family member 1 in blood serum def: "The amount of a linker for activation of T-cells family member 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum linker for activation of T-cells family member 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042168 name: level of linker for activation of T-cells family member 2 in blood serum def: "The amount of a linker for activation of T-cells family member 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum linker for activation of T-cells family member 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042169 name: level of phosphatidylcholine-sterol acyltransferase in blood serum def: "The amount of a phosphatidylcholine-sterol acyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphatidylcholine-sterol acyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042170 name: level of late cornified envelope protein 3B in blood serum def: "The amount of a late cornified envelope protein 3B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum late cornified envelope protein 3B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042171 name: level of late cornified envelope protein 3C in blood serum def: "The amount of a late cornified envelope protein 3C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum late cornified envelope protein 3C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042172 name: level of lipocalin-1 in blood serum def: "The amount of a lipocalin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lipocalin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042173 name: level of epididymal-specific lipocalin-10 in blood serum def: "The amount of a epididymal-specific lipocalin-10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum epididymal-specific lipocalin-10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042174 name: level of epididymal-specific lipocalin-8 in blood serum def: "The amount of a epididymal-specific lipocalin-8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum epididymal-specific lipocalin-8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042175 name: level of lipocalin-like 1 protein in blood serum def: "The amount of a lipocalin-like 1 protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lipocalin-like 1 protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042176 name: level of plastin-2 in blood serum def: "The amount of a plastin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum plastin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042177 name: level of lactase/phlorizin hydrolase in blood serum def: "The amount of a lactase/phlorizin hydrolase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lactase/phlorizin hydrolase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042178 name: level of lactase-like protein in blood serum def: "The amount of a lactase-like protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lactase-like protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042179 name: level of LIM domain-binding protein 1 in blood serum def: "The amount of a LIM domain-binding protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum LIM domain-binding protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042180 name: level of LIM domain-binding protein 2 in blood serum def: "The amount of a LIM domain-binding protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum LIM domain-binding protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042181 name: level of L-lactate dehydrogenase A chain in blood serum def: "The amount of a L-lactate dehydrogenase A chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum L-lactate dehydrogenase A chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042182 name: level of L-lactate dehydrogenase C chain in blood serum def: "The amount of a L-lactate dehydrogenase C chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum L-lactate dehydrogenase C chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042183 name: level of low density lipoprotein receptor adapter protein 1 in blood serum def: "The amount of a low density lipoprotein receptor adapter protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum low density lipoprotein receptor adapter protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042184 name: level of protein LDOC1 in blood serum def: "The amount of a protein LDOC1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein LDOC1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042185 name: level of retrotransposon Gag-like protein 6 in blood serum def: "The amount of a retrotransposon Gag-like protein 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum retrotransposon Gag-like protein 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042186 name: level of chondromodulin-1 in blood serum def: "The amount of a chondromodulin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum chondromodulin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042187 name: level of leukocyte cell-derived chemotaxin-2 in blood serum def: "The amount of a leukocyte cell-derived chemotaxin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leukocyte cell-derived chemotaxin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042188 name: level of prolyl 3-hydroxylase 1 in blood serum def: "The amount of a prolyl 3-hydroxylase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum prolyl 3-hydroxylase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042189 name: level of LETM1 domain-containing protein 1 in blood serum def: "The amount of a LETM1 domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum LETM1 domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042190 name: level of galactoside-binding soluble lectin 13 in blood serum def: "The amount of a galactoside-binding soluble lectin 13 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum galactoside-binding soluble lectin 13 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042191 name: level of lengsin in blood serum def: "The amount of a lengsin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lengsin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042192 name: level of lutropin subunit beta in blood serum def: "The amount of a lutropin subunit beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lutropin subunit beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042193 name: level of leukemia inhibitory factor in blood serum def: "The amount of a leukemia inhibitory factor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leukemia inhibitory factor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042194 name: level of leukocyte immunoglobulin-like receptor subfamily A member 1 in blood serum def: "The amount of a leukocyte immunoglobulin-like receptor subfamily A member 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leukocyte immunoglobulin-like receptor subfamily A member 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042195 name: level of leukocyte immunoglobulin-like receptor subfamily A member 2 in blood serum def: "The amount of a leukocyte immunoglobulin-like receptor subfamily A member 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leukocyte immunoglobulin-like receptor subfamily A member 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042196 name: level of leukocyte immunoglobulin-like receptor subfamily A member 3 in blood serum def: "The amount of a leukocyte immunoglobulin-like receptor subfamily A member 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leukocyte immunoglobulin-like receptor subfamily A member 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042197 name: level of leukocyte immunoglobulin-like receptor subfamily A member 5 in blood serum def: "The amount of a leukocyte immunoglobulin-like receptor subfamily A member 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leukocyte immunoglobulin-like receptor subfamily A member 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042198 name: level of leukocyte immunoglobulin-like receptor subfamily A member 6 in blood serum def: "The amount of a leukocyte immunoglobulin-like receptor subfamily A member 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leukocyte immunoglobulin-like receptor subfamily A member 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042199 name: level of leukocyte immunoglobulin-like receptor subfamily B member 3 in blood serum def: "The amount of a leukocyte immunoglobulin-like receptor subfamily B member 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leukocyte immunoglobulin-like receptor subfamily B member 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042200 name: level of leukocyte immunoglobulin-like receptor subfamily B member 4 in blood serum def: "The amount of a leukocyte immunoglobulin-like receptor subfamily B member 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leukocyte immunoglobulin-like receptor subfamily B member 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042201 name: level of leukocyte immunoglobulin-like receptor subfamily B member 5 in blood serum def: "The amount of a leukocyte immunoglobulin-like receptor subfamily B member 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leukocyte immunoglobulin-like receptor subfamily B member 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042202 name: level of LIM domain and actin-binding protein 1 in blood serum def: "The amount of a LIM domain and actin-binding protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum LIM domain and actin-binding protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042203 name: level of LIM domain kinase 1 in blood serum def: "The amount of a LIM domain kinase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum LIM domain kinase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042204 name: level of protein lin-28 homolog B in blood serum def: "The amount of a protein lin-28 homolog B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein lin-28 homolog B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042205 name: level of protein lin-7 homolog A in blood serum def: "The amount of a protein lin-7 homolog A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein lin-7 homolog A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042206 name: level of leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 in blood serum def: "The amount of a leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042207 name: level of endothelial lipase in blood serum def: "The amount of a endothelial lipase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum endothelial lipase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042208 name: level of lipase member K in blood serum def: "The amount of a lipase member K when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lipase member K amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042209 name: level of lipase member N in blood serum def: "The amount of a lipase member N when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lipase member N amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042210 name: level of protein ERGIC-53 in blood serum def: "The amount of a protein ERGIC-53 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein ERGIC-53 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042211 name: level of VIP36-like protein in blood serum def: "The amount of a VIP36-like protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum VIP36-like protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042212 name: level of lamin-B2 in blood serum def: "The amount of a lamin-B2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lamin-B2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042213 name: level of LIM domain transcription factor LMO4 in blood serum def: "The amount of a LIM domain transcription factor LMO4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum LIM domain transcription factor LMO4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042214 name: level of leiomodin-1 in blood serum def: "The amount of a leiomodin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leiomodin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042215 name: level of endoplasmic reticulum junction formation protein lunapark in blood serum def: "The amount of a endoplasmic reticulum junction formation protein lunapark when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum endoplasmic reticulum junction formation protein lunapark amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042216 name: level of E3 ubiquitin-protein ligase LNX in blood serum def: "The amount of a E3 ubiquitin-protein ligase LNX when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 ubiquitin-protein ligase LNX amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042217 name: level of BLOC-1-related complex subunit 5 in blood serum def: "The amount of a BLOC-1-related complex subunit 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum BLOC-1-related complex subunit 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042218 name: level of Lon protease, mitochondrial in blood serum def: "The amount of a Lon protease, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Lon protease, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042219 name: level of lysyl oxidase homolog 2 in blood serum def: "The amount of a lysyl oxidase homolog 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lysyl oxidase homolog 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042220 name: level of lysyl oxidase homolog 3 in blood serum def: "The amount of a lysyl oxidase homolog 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lysyl oxidase homolog 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042221 name: level of lysophosphatidylcholine acyltransferase 2 in blood serum def: "The amount of a lysophosphatidylcholine acyltransferase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lysophosphatidylcholine acyltransferase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042222 name: level of phosphatidate phosphatase LPIN1 in blood serum def: "The amount of a phosphatidate phosphatase LPIN1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphatidate phosphatase LPIN1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042223 name: level of lipoprotein lipase in blood serum def: "The amount of a lipoprotein lipase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lipoprotein lipase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042224 name: level of BPI fold-containing family B member 1 in blood serum def: "The amount of a BPI fold-containing family B member 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum BPI fold-containing family B member 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042225 name: level of leucine-rich repeat and fibronectin type III domain-containing protein 1 in blood serum def: "The amount of a leucine-rich repeat and fibronectin type III domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leucine-rich repeat and fibronectin type III domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042226 name: level of leucine-rich repeats and immunoglobulin-like domains protein 1 in blood serum def: "The amount of a leucine-rich repeats and immunoglobulin-like domains protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leucine-rich repeats and immunoglobulin-like domains protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042227 name: level of inositol 1,4,5-triphosphate receptor associated 2 in blood serum def: "The amount of a inositol 1,4,5-triphosphate receptor associated 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum inositol 1,4,5-triphosphate receptor associated 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042228 name: level of low-density lipoprotein receptor-related protein 10 in blood serum def: "The amount of a low-density lipoprotein receptor-related protein 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum low-density lipoprotein receptor-related protein 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042229 name: level of low-density lipoprotein receptor-related protein 11 in blood serum def: "The amount of a low-density lipoprotein receptor-related protein 11 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum low-density lipoprotein receptor-related protein 11 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042230 name: level of low-density lipoprotein receptor-related protein 12 in blood serum def: "The amount of a low-density lipoprotein receptor-related protein 12 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum low-density lipoprotein receptor-related protein 12 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042231 name: level of low-density lipoprotein receptor-related protein 2 in blood serum def: "The amount of a low-density lipoprotein receptor-related protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum low-density lipoprotein receptor-related protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042232 name: level of LRP2-binding protein in blood serum def: "The amount of a LRP2-binding protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum LRP2-binding protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042233 name: level of low-density lipoprotein receptor-related protein 4 in blood serum def: "The amount of a low-density lipoprotein receptor-related protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum low-density lipoprotein receptor-related protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042234 name: level of low-density lipoprotein receptor-related protein 5 in blood serum def: "The amount of a low-density lipoprotein receptor-related protein 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum low-density lipoprotein receptor-related protein 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042235 name: level of low-density lipoprotein receptor-related protein 6 in blood serum def: "The amount of a low-density lipoprotein receptor-related protein 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum low-density lipoprotein receptor-related protein 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042236 name: level of netrin-G1 ligand in blood serum def: "The amount of a netrin-G1 ligand when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum netrin-G1 ligand amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042237 name: level of leucine-rich repeat flightless-interacting protein 2 in blood serum def: "The amount of a leucine-rich repeat flightless-interacting protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leucine-rich repeat flightless-interacting protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042238 name: level of leucine-rich repeat transmembrane neuronal protein 2 in blood serum def: "The amount of a leucine-rich repeat transmembrane neuronal protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leucine-rich repeat transmembrane neuronal protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042239 name: level of E3 ubiquitin-protein ligase LRSAM1 in blood serum def: "The amount of a E3 ubiquitin-protein ligase LRSAM1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 ubiquitin-protein ligase LRSAM1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042240 name: level of U6 snRNA-associated Sm-like protein LSm1 in blood serum def: "The amount of a U6 snRNA-associated Sm-like protein LSm1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum U6 snRNA-associated Sm-like protein LSm1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042241 name: level of protein LSM12 in blood serum def: "The amount of a protein LSM12 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein LSM12 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042242 name: level of U6 snRNA-associated Sm-like protein LSm3 in blood serum def: "The amount of a U6 snRNA-associated Sm-like protein LSm3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum U6 snRNA-associated Sm-like protein LSm3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042243 name: level of U6 snRNA-associated Sm-like protein LSm4 in blood serum def: "The amount of a U6 snRNA-associated Sm-like protein LSm4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum U6 snRNA-associated Sm-like protein LSm4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042244 name: level of lymphocyte-specific protein 1 in blood serum def: "The amount of a lymphocyte-specific protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lymphocyte-specific protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042245 name: level of leukocyte-specific transcript 1 protein in blood serum def: "The amount of a leukocyte-specific transcript 1 protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leukocyte-specific transcript 1 protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042246 name: level of leukocyte tyrosine kinase receptor in blood serum def: "The amount of a leukocyte tyrosine kinase receptor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leukocyte tyrosine kinase receptor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042247 name: level of latexin in blood serum def: "The amount of a latexin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum latexin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042248 name: level of lymphocyte antigen 6 complex locus protein G6c in blood serum def: "The amount of a lymphocyte antigen 6 complex locus protein G6c when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lymphocyte antigen 6 complex locus protein G6c amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042249 name: level of lymphocyte antigen 6 complex locus protein G6d in blood serum def: "The amount of a lymphocyte antigen 6 complex locus protein G6d when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lymphocyte antigen 6 complex locus protein G6d amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042250 name: level of lysozyme g-like protein 1 in blood serum def: "The amount of a lysozyme g-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lysozyme g-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042251 name: level of lysophospholipase-like protein 1 in blood serum def: "The amount of a lysophospholipase-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lysophospholipase-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042252 name: level of LYR motif-containing protein 1 in blood serum def: "The amount of a LYR motif-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum LYR motif-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042253 name: level of lysozyme-like protein 2 in blood serum def: "The amount of a lysozyme-like protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lysozyme-like protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042254 name: level of protein LZIC in blood serum def: "The amount of a protein LZIC when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein LZIC amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042255 name: level of leucine zipper transcription factor-like protein 1 in blood serum def: "The amount of a leucine zipper transcription factor-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leucine zipper transcription factor-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042256 name: level of perilipin-3 in blood serum def: "The amount of a perilipin-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum perilipin-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042257 name: level of mitotic spindle assembly checkpoint protein MAD1 in blood serum def: "The amount of a mitotic spindle assembly checkpoint protein MAD1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mitotic spindle assembly checkpoint protein MAD1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042258 name: level of mitotic spindle assembly checkpoint protein MAD2A in blood serum def: "The amount of a mitotic spindle assembly checkpoint protein MAD2A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mitotic spindle assembly checkpoint protein MAD2A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042259 name: level of MAD2L1-binding protein in blood serum def: "The amount of a MAD2L1-binding protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum MAD2L1-binding protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042260 name: level of mucosal addressin cell adhesion molecule 1 in blood serum def: "The amount of a mucosal addressin cell adhesion molecule 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mucosal addressin cell adhesion molecule 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042261 name: level of E3 ubiquitin-protein transferase MAEA in blood serum def: "The amount of a E3 ubiquitin-protein transferase MAEA when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 ubiquitin-protein transferase MAEA amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042262 name: level of transcription factor MafG in blood serum def: "The amount of a transcription factor MafG when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription factor MafG amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042263 name: level of myelin-associated glycoprotein in blood serum def: "The amount of a myelin-associated glycoprotein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum myelin-associated glycoprotein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042264 name: level of melanoma-associated antigen 10 in blood serum def: "The amount of a melanoma-associated antigen 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum melanoma-associated antigen 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042265 name: level of melanoma-associated antigen 3 in blood serum def: "The amount of a melanoma-associated antigen 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum melanoma-associated antigen 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042266 name: level of melanoma-associated antigen 4 in blood serum def: "The amount of a melanoma-associated antigen 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum melanoma-associated antigen 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042267 name: level of putative melanoma-associated antigen 5P in blood serum def: "The amount of a putative melanoma-associated antigen 5P when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum putative melanoma-associated antigen 5P amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042268 name: level of melanoma-associated antigen 6 in blood serum def: "The amount of a melanoma-associated antigen 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum melanoma-associated antigen 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042269 name: level of melanoma-associated antigen 8 in blood serum def: "The amount of a melanoma-associated antigen 8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum melanoma-associated antigen 8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042270 name: level of melanoma-associated antigen B10 in blood serum def: "The amount of a melanoma-associated antigen B10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum melanoma-associated antigen B10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042271 name: level of membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 in blood serum def: "The amount of a membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042272 name: level of protein mago nashi in blood serum def: "The amount of a protein mago nashi when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein mago nashi amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042273 name: level of protein mago nashi homolog 2 in blood serum def: "The amount of a protein mago nashi homolog 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein mago nashi homolog 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042274 name: level of mucosa-associated lymphoid tissue lymphoma translocation protein 1 in blood serum def: "The amount of a mucosa-associated lymphoid tissue lymphoma translocation protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mucosa-associated lymphoid tissue lymphoma translocation protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042275 name: level of mannosyl-oligosaccharide 1,2-alpha-mannosidase IB in blood serum def: "The amount of a mannosyl-oligosaccharide 1,2-alpha-mannosidase IB when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mannosyl-oligosaccharide 1,2-alpha-mannosidase IB amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042276 name: level of endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase in blood serum def: "The amount of a endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042277 name: level of mannosyl-oligosaccharide 1,2-alpha-mannosidase IC in blood serum def: "The amount of a mannosyl-oligosaccharide 1,2-alpha-mannosidase IC when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mannosyl-oligosaccharide 1,2-alpha-mannosidase IC amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042278 name: level of epididymis-specific alpha-mannosidase in blood serum def: "The amount of a epididymis-specific alpha-mannosidase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum epididymis-specific alpha-mannosidase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042279 name: level of beta-mannosidase in blood serum def: "The amount of a beta-mannosidase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-mannosidase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042280 name: level of glycoprotein endo-alpha-1,2-mannosidase in blood serum def: "The amount of a glycoprotein endo-alpha-1,2-mannosidase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glycoprotein endo-alpha-1,2-mannosidase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042281 name: level of methionine aminopeptidase 1D, mitochondrial in blood serum def: "The amount of a methionine aminopeptidase 1D, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum methionine aminopeptidase 1D, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042282 name: level of microtubule-associated proteins 1A/1B light chain 3A in blood serum def: "The amount of a microtubule-associated proteins 1A/1B light chain 3A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum microtubule-associated proteins 1A/1B light chain 3A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042283 name: level of microtubule-associated proteins 1A/1B light chain 3B in blood serum def: "The amount of a microtubule-associated proteins 1A/1B light chain 3B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum microtubule-associated proteins 1A/1B light chain 3B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042284 name: level of microtubule-associated proteins 1A/1B light chain 3 beta 2 in blood serum def: "The amount of a microtubule-associated proteins 1A/1B light chain 3 beta 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum microtubule-associated proteins 1A/1B light chain 3 beta 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042285 name: level of dual specificity mitogen-activated protein kinase kinase 5 in blood serum def: "The amount of a dual specificity mitogen-activated protein kinase kinase 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dual specificity mitogen-activated protein kinase kinase 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042286 name: level of mitogen-activated protein kinase kinase kinase 10 in blood serum def: "The amount of a mitogen-activated protein kinase kinase kinase 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mitogen-activated protein kinase kinase kinase 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042287 name: level of mitogen-activated protein kinase kinase kinase 11 in blood serum def: "The amount of a mitogen-activated protein kinase kinase kinase 11 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mitogen-activated protein kinase kinase kinase 11 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042288 name: level of mitogen-activated protein kinase kinase kinase 3 in blood serum def: "The amount of a mitogen-activated protein kinase kinase kinase 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mitogen-activated protein kinase kinase kinase 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042289 name: level of mitogen-activated protein kinase kinase kinase kinase 1 in blood serum def: "The amount of a mitogen-activated protein kinase kinase kinase kinase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mitogen-activated protein kinase kinase kinase kinase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042290 name: level of mitogen-activated protein kinase kinase kinase kinase 3 in blood serum def: "The amount of a mitogen-activated protein kinase kinase kinase kinase 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mitogen-activated protein kinase kinase kinase kinase 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042291 name: level of mitogen-activated protein kinase kinase kinase kinase 5 in blood serum def: "The amount of a mitogen-activated protein kinase kinase kinase kinase 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mitogen-activated protein kinase kinase kinase kinase 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042292 name: level of MAP6 domain-containing protein 1 in blood serum def: "The amount of a MAP6 domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum MAP6 domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042293 name: level of mitogen-activated protein kinase 10 in blood serum def: "The amount of a mitogen-activated protein kinase 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mitogen-activated protein kinase 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042294 name: level of mitogen-activated protein kinase 6 in blood serum def: "The amount of a mitogen-activated protein kinase 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mitogen-activated protein kinase 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042295 name: level of mitogen-activated protein kinase scaffold protein 1 in blood serum def: "The amount of a mitogen-activated protein kinase scaffold protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mitogen-activated protein kinase scaffold protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042296 name: level of microtubule-associated protein RP/EB family member 1 in blood serum def: "The amount of a microtubule-associated protein RP/EB family member 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum microtubule-associated protein RP/EB family member 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042297 name: level of microtubule-associated protein RP/EB family member 2 in blood serum def: "The amount of a microtubule-associated protein RP/EB family member 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum microtubule-associated protein RP/EB family member 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042298 name: level of microtubule-associated protein RP/EB family member 3 in blood serum def: "The amount of a microtubule-associated protein RP/EB family member 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum microtubule-associated protein RP/EB family member 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042299 name: level of MARCKS-related protein in blood serum def: "The amount of a MARCKS-related protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum MARCKS-related protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042300 name: level of MAP/microtubule affinity-regulating kinase 3 in blood serum def: "The amount of a MAP/microtubule affinity-regulating kinase 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum MAP/microtubule affinity-regulating kinase 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042301 name: level of methionine--tRNA ligase, cytoplasmic in blood serum def: "The amount of a methionine--tRNA ligase, cytoplasmic when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum methionine--tRNA ligase, cytoplasmic amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042302 name: level of MARVEL domain-containing protein 2 in blood serum def: "The amount of a MARVEL domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum MARVEL domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042303 name: level of microtubule-associated serine/threonine-protein kinase 4 in blood serum def: "The amount of a microtubule-associated serine/threonine-protein kinase 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum microtubule-associated serine/threonine-protein kinase 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042304 name: level of S-adenosylmethionine synthetase isoform type-1 in blood serum def: "The amount of a S-adenosylmethionine synthetase isoform type-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum S-adenosylmethionine synthetase isoform type-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042305 name: level of methionine adenosyltransferase 2 subunit beta in blood serum def: "The amount of a methionine adenosyltransferase 2 subunit beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum methionine adenosyltransferase 2 subunit beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042306 name: level of matrilin-4 in blood serum def: "The amount of a matrilin-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum matrilin-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042307 name: level of protein max in blood serum def: "The amount of a protein max when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein max amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042308 name: level of Myc-associated zinc finger protein in blood serum def: "The amount of a Myc-associated zinc finger protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Myc-associated zinc finger protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042309 name: level of muscleblind-like protein 1 in blood serum def: "The amount of a muscleblind-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum muscleblind-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042310 name: level of muscleblind-like protein 2 in blood serum def: "The amount of a muscleblind-like protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum muscleblind-like protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042311 name: level of membrane-bound transcription factor site-1 protease in blood serum def: "The amount of a membrane-bound transcription factor site-1 protease when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum membrane-bound transcription factor site-1 protease amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042312 name: level of methylmalonyl-CoA epimerase, mitochondrial in blood serum def: "The amount of a methylmalonyl-CoA epimerase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum methylmalonyl-CoA epimerase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042313 name: level of mast cell-expressed membrane protein 1 in blood serum def: "The amount of a mast cell-expressed membrane protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mast cell-expressed membrane protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042314 name: level of guanine nucleotide exchange factor DBS in blood serum def: "The amount of a guanine nucleotide exchange factor DBS when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum guanine nucleotide exchange factor DBS amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042315 name: level of DNA replication licensing factor MCM6 in blood serum def: "The amount of a DNA replication licensing factor MCM6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA replication licensing factor MCM6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042316 name: level of malignant T cell-amplified sequence 1 in blood serum def: "The amount of a malignant T cell-amplified sequence 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum malignant T cell-amplified sequence 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042317 name: level of MAM domain-containing glycosylphosphatidylinositol anchor protein 1 in blood serum def: "The amount of a MAM domain-containing glycosylphosphatidylinositol anchor protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum MAM domain-containing glycosylphosphatidylinositol anchor protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042318 name: level of malate dehydrogenase, mitochondrial in blood serum def: "The amount of a malate dehydrogenase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum malate dehydrogenase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042319 name: level of nuclear protein MDM1 in blood serum def: "The amount of a nuclear protein MDM1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nuclear protein MDM1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042320 name: level of protein Mdm4 in blood serum def: "The amount of a protein Mdm4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein Mdm4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042321 name: level of magnesium-dependent phosphatase 1 in blood serum def: "The amount of a magnesium-dependent phosphatase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum magnesium-dependent phosphatase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042322 name: level of NADP-dependent malic enzyme in blood serum def: "The amount of a NADP-dependent malic enzyme when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NADP-dependent malic enzyme amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042323 name: level of NAD-dependent malic enzyme, mitochondrial in blood serum def: "The amount of a NAD-dependent malic enzyme, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NAD-dependent malic enzyme, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042324 name: level of methyl-CpG-binding protein 2 in blood serum def: "The amount of a methyl-CpG-binding protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum methyl-CpG-binding protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042325 name: level of mediator of RNA polymerase II transcription subunit 10 in blood serum def: "The amount of a mediator of RNA polymerase II transcription subunit 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mediator of RNA polymerase II transcription subunit 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042326 name: level of mediator of RNA polymerase II transcription subunit 11 in blood serum def: "The amount of a mediator of RNA polymerase II transcription subunit 11 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mediator of RNA polymerase II transcription subunit 11 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042327 name: level of mediator of RNA polymerase II transcription subunit 20 in blood serum def: "The amount of a mediator of RNA polymerase II transcription subunit 20 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mediator of RNA polymerase II transcription subunit 20 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042328 name: level of mediator of RNA polymerase II transcription subunit 28 in blood serum def: "The amount of a mediator of RNA polymerase II transcription subunit 28 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mediator of RNA polymerase II transcription subunit 28 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042329 name: level of mediator of RNA polymerase II transcription subunit 4 in blood serum def: "The amount of a mediator of RNA polymerase II transcription subunit 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mediator of RNA polymerase II transcription subunit 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042330 name: level of myocyte-specific enhancer factor 2C in blood serum def: "The amount of a myocyte-specific enhancer factor 2C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum myocyte-specific enhancer factor 2C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042331 name: level of myocyte-specific enhancer factor 2D in blood serum def: "The amount of a myocyte-specific enhancer factor 2D when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum myocyte-specific enhancer factor 2D amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042332 name: level of multiple epidermal growth factor-like domains protein 10 in blood serum def: "The amount of a multiple epidermal growth factor-like domains protein 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum multiple epidermal growth factor-like domains protein 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042333 name: level of meiosis expressed gene 1 protein in blood serum def: "The amount of a meiosis expressed gene 1 protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum meiosis expressed gene 1 protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042334 name: level of homeobox protein Meis2 in blood serum def: "The amount of a homeobox protein Meis2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum homeobox protein Meis2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042335 name: level of protein MEMO1 in blood serum def: "The amount of a protein MEMO1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein MEMO1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042336 name: level of menin in blood serum def: "The amount of a menin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum menin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042337 name: level of homeobox protein MOX-1 in blood serum def: "The amount of a homeobox protein MOX-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum homeobox protein MOX-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042338 name: level of homeobox protein MOX-2 in blood serum def: "The amount of a homeobox protein MOX-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum homeobox protein MOX-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042339 name: level of meprin A subunit alpha in blood serum def: "The amount of a meprin A subunit alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum meprin A subunit alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042340 name: level of tyrosine-protein kinase Mer in blood serum def: "The amount of a tyrosine-protein kinase Mer when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tyrosine-protein kinase Mer amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042341 name: level of talin rod domain-containing protein 1 in blood serum def: "The amount of a talin rod domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum talin rod domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042342 name: level of mesoderm development candidate 2 in blood serum def: "The amount of a mesoderm development candidate 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mesoderm development candidate 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042343 name: level of meteorin-like protein in blood serum def: "The amount of a meteorin-like protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum meteorin-like protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042344 name: level of tRNA (guanine-N(7)-)-methyltransferase in blood serum def: "The amount of a tRNA (guanine-N(7)-)-methyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tRNA (guanine-N(7)-)-methyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042345 name: level of methyltransferase-like protein 11A in blood serum def: "The amount of a methyltransferase-like protein 11A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum methyltransferase-like protein 11A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042346 name: level of tRNA N(3)-methylcytidine methyltransferase METTL2B in blood serum def: "The amount of a tRNA N(3)-methylcytidine methyltransferase METTL2B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tRNA N(3)-methylcytidine methyltransferase METTL2B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042347 name: level of N6-adenosine-methyltransferase catalytic subunit in blood serum def: "The amount of a N6-adenosine-methyltransferase catalytic subunit when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum N6-adenosine-methyltransferase catalytic subunit amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042348 name: level of microfibrillar-associated protein 1 in blood serum def: "The amount of a microfibrillar-associated protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum microfibrillar-associated protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042349 name: level of microfibrillar-associated protein 2 in blood serum def: "The amount of a microfibrillar-associated protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum microfibrillar-associated protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042350 name: level of microfibril-associated glycoprotein 3 in blood serum def: "The amount of a microfibril-associated glycoprotein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum microfibril-associated glycoprotein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042351 name: level of microfibrillar-associated protein 3-like in blood serum def: "The amount of a microfibrillar-associated protein 3-like when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum microfibrillar-associated protein 3-like amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042352 name: level of microfibrillar-associated protein 5 in blood serum def: "The amount of a microfibrillar-associated protein 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum microfibrillar-associated protein 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042353 name: level of mitofusin-1 in blood serum def: "The amount of a mitofusin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mitofusin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042354 name: level of beta-1,3-N-acetylglucosaminyltransferase manic fringe in blood serum def: "The amount of a beta-1,3-N-acetylglucosaminyltransferase manic fringe when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-1,3-N-acetylglucosaminyltransferase manic fringe amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042355 name: level of MAX gene-associated protein in blood serum def: "The amount of a MAX gene-associated protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum MAX gene-associated protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042356 name: level of alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase in blood serum def: "The amount of a alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042357 name: level of alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase in blood serum def: "The amount of a alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042358 name: level of beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase in blood serum def: "The amount of a beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042359 name: level of alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A in blood serum def: "The amount of a alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042360 name: level of alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B in blood serum def: "The amount of a alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042361 name: level of alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C in blood serum def: "The amount of a alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042362 name: level of alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A in blood serum def: "The amount of a alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042363 name: level of methylated-DNA--protein-cysteine methyltransferase in blood serum def: "The amount of a methylated-DNA--protein-cysteine methyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum methylated-DNA--protein-cysteine methyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042364 name: level of matrix Gla protein in blood serum def: "The amount of a matrix Gla protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum matrix Gla protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042365 name: level of [F-actin]-monooxygenase MICAL1 in blood serum def: "The amount of a [F-actin]-monooxygenase MICAL1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum [F-actin]-monooxygenase MICAL1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042366 name: level of MICAL-like protein 1 in blood serum def: "The amount of a MICAL-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum MICAL-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042367 name: level of MICAL-like protein 2 in blood serum def: "The amount of a MICAL-like protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum MICAL-like protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042368 name: level of midline-2 in blood serum def: "The amount of a midline-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum midline-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042369 name: level of multiple inositol polyphosphate phosphatase 1 in blood serum def: "The amount of a multiple inositol polyphosphate phosphatase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum multiple inositol polyphosphate phosphatase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042370 name: level of inositol oxygenase in blood serum def: "The amount of a inositol oxygenase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum inositol oxygenase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042371 name: level of MIT domain-containing protein 1 in blood serum def: "The amount of a MIT domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum MIT domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042372 name: level of microphthalmia-associated transcription factor in blood serum def: "The amount of a microphthalmia-associated transcription factor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum microphthalmia-associated transcription factor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042373 name: level of MAP kinase-interacting serine/threonine-protein kinase 1 in blood serum def: "The amount of a MAP kinase-interacting serine/threonine-protein kinase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum MAP kinase-interacting serine/threonine-protein kinase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042374 name: level of homeobox protein Mohawk in blood serum def: "The amount of a homeobox protein Mohawk when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum homeobox protein Mohawk amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042375 name: level of melanoma antigen recognized by T-cells 1 in blood serum def: "The amount of a melanoma antigen recognized by T-cells 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum melanoma antigen recognized by T-cells 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042376 name: level of malectin in blood serum def: "The amount of a malectin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum malectin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042377 name: level of myeloid leukemia factor 1 in blood serum def: "The amount of a myeloid leukemia factor 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum myeloid leukemia factor 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042378 name: level of histone-lysine N-methyltransferase 2D in blood serum def: "The amount of a histone-lysine N-methyltransferase 2D when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum histone-lysine N-methyltransferase 2D amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042379 name: level of histone-lysine N-methyltransferase 2C in blood serum def: "The amount of a histone-lysine N-methyltransferase 2C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum histone-lysine N-methyltransferase 2C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042380 name: level of promotilin in blood serum def: "The amount of a promotilin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum promotilin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042381 name: level of Max-like protein X in blood serum def: "The amount of a Max-like protein X when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Max-like protein X amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042382 name: level of malonyl-CoA decarboxylase, mitochondrial in blood serum def: "The amount of a malonyl-CoA decarboxylase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum malonyl-CoA decarboxylase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042383 name: level of corrinoid adenosyltransferase MMAB in blood serum def: "The amount of a corrinoid adenosyltransferase MMAB when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum corrinoid adenosyltransferase MMAB amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042384 name: level of cyanocobalamin reductase / alkylcobalamin dealkylase in blood serum def: "The amount of a cyanocobalamin reductase / alkylcobalamin dealkylase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cyanocobalamin reductase / alkylcobalamin dealkylase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042385 name: level of cobalamin trafficking protein CblD in blood serum def: "The amount of a cobalamin trafficking protein CblD when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cobalamin trafficking protein CblD amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042386 name: level of ER membrane protein complex subunit 5 in blood serum def: "The amount of a ER membrane protein complex subunit 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ER membrane protein complex subunit 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042387 name: level of stromelysin-2 in blood serum def: "The amount of a stromelysin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum stromelysin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042388 name: level of matrix metalloproteinase-19 in blood serum def: "The amount of a matrix metalloproteinase-19 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum matrix metalloproteinase-19 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042389 name: level of matrix metalloproteinase-20 in blood serum def: "The amount of a matrix metalloproteinase-20 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum matrix metalloproteinase-20 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042390 name: level of stromelysin-1 in blood serum def: "The amount of a stromelysin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum stromelysin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042391 name: level of multimerin-2 in blood serum def: "The amount of a multimerin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum multimerin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042392 name: level of CDK-activating kinase assembly factor MAT1 in blood serum def: "The amount of a CDK-activating kinase assembly factor MAT1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CDK-activating kinase assembly factor MAT1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042393 name: level of motor neuron and pancreas homeobox protein 1 in blood serum def: "The amount of a motor neuron and pancreas homeobox protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum motor neuron and pancreas homeobox protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042394 name: level of MOB kinase activator 1B in blood serum def: "The amount of a MOB kinase activator 1B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum MOB kinase activator 1B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042395 name: level of MOB kinase activator 1A in blood serum def: "The amount of a MOB kinase activator 1A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum MOB kinase activator 1A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042396 name: level of MOB kinase activator 3B in blood serum def: "The amount of a MOB kinase activator 3B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum MOB kinase activator 3B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042397 name: level of MOB-like protein phocein in blood serum def: "The amount of a MOB-like protein phocein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum MOB-like protein phocein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042398 name: level of molybdenum cofactor sulfurase in blood serum def: "The amount of a molybdenum cofactor sulfurase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum molybdenum cofactor sulfurase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042399 name: level of adenylyltransferase and sulfurtransferase MOCS3 in blood serum def: "The amount of a adenylyltransferase and sulfurtransferase MOCS3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum adenylyltransferase and sulfurtransferase MOCS3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042400 name: level of myelin-oligodendrocyte glycoprotein in blood serum def: "The amount of a myelin-oligodendrocyte glycoprotein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum myelin-oligodendrocyte glycoprotein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042401 name: level of mortality factor 4-like protein 1 in blood serum def: "The amount of a mortality factor 4-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mortality factor 4-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042402 name: level of mortality factor 4-like protein 2 in blood serum def: "The amount of a mortality factor 4-like protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mortality factor 4-like protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042403 name: level of multiple PDZ domain protein in blood serum def: "The amount of a multiple PDZ domain protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum multiple PDZ domain protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042404 name: level of DNA-3-methyladenine glycosylase in blood serum def: "The amount of a DNA-3-methyladenine glycosylase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA-3-methyladenine glycosylase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042405 name: level of mannose-6-phosphate isomerase in blood serum def: "The amount of a mannose-6-phosphate isomerase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mannose-6-phosphate isomerase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042406 name: level of protein PALS1 in blood serum def: "The amount of a protein PALS1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein PALS1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042407 name: level of MAGUK p55 subfamily member 7 in blood serum def: "The amount of a MAGUK p55 subfamily member 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum MAGUK p55 subfamily member 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042408 name: level of 3-mercaptopyruvate sulfurtransferase in blood serum def: "The amount of a 3-mercaptopyruvate sulfurtransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 3-mercaptopyruvate sulfurtransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042409 name: level of myelin P0 protein in blood serum def: "The amount of a myelin P0 protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum myelin P0 protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042410 name: level of myelin protein zero-like protein 1 in blood serum def: "The amount of a myelin protein zero-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum myelin protein zero-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042411 name: level of myelin protein zero-like protein 2 in blood serum def: "The amount of a myelin protein zero-like protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum myelin protein zero-like protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042412 name: level of melanocortin-2 receptor accessory protein in blood serum def: "The amount of a melanocortin-2 receptor accessory protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum melanocortin-2 receptor accessory protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042413 name: level of melanocortin-2 receptor accessory protein 2 in blood serum def: "The amount of a melanocortin-2 receptor accessory protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum melanocortin-2 receptor accessory protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042414 name: level of Ras-related protein M-Ras in blood serum def: "The amount of a Ras-related protein M-Ras when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related protein M-Ras amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042415 name: level of double-strand break repair protein MRE11 in blood serum def: "The amount of a double-strand break repair protein MRE11 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum double-strand break repair protein MRE11 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042416 name: level of melanoregulin in blood serum def: "The amount of a melanoregulin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum melanoregulin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042417 name: level of modulator of retrovirus infection in blood serum def: "The amount of a modulator of retrovirus infection when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum modulator of retrovirus infection amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042418 name: level of methylthioribose-1-phosphate isomerase in blood serum def: "The amount of a methylthioribose-1-phosphate isomerase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum methylthioribose-1-phosphate isomerase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042419 name: level of myosin regulatory light chain MRLC3 in blood serum def: "The amount of a myosin regulatory light chain MRLC3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum myosin regulatory light chain MRLC3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042420 name: level of rRNA methyltransferase 1, mitochondrial in blood serum def: "The amount of a rRNA methyltransferase 1, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum rRNA methyltransferase 1, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042421 name: level of 39S ribosomal protein L1, mitochondrial in blood serum def: "The amount of a 39S ribosomal protein L1, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 39S ribosomal protein L1, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042422 name: level of 39S ribosomal protein L10, mitochondrial in blood serum def: "The amount of a 39S ribosomal protein L10, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 39S ribosomal protein L10, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042423 name: level of 39S ribosomal protein L12, mitochondrial in blood serum def: "The amount of a 39S ribosomal protein L12, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 39S ribosomal protein L12, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042424 name: level of 39S ribosomal protein L14, mitochondrial in blood serum def: "The amount of a 39S ribosomal protein L14, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 39S ribosomal protein L14, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042425 name: level of 39S ribosomal protein L2, mitochondrial in blood serum def: "The amount of a 39S ribosomal protein L2, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 39S ribosomal protein L2, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042426 name: level of 39S ribosomal protein L21, mitochondrial in blood serum def: "The amount of a 39S ribosomal protein L21, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 39S ribosomal protein L21, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042427 name: level of 39S ribosomal protein L28, mitochondrial in blood serum def: "The amount of a 39S ribosomal protein L28, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 39S ribosomal protein L28, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042428 name: level of 39S ribosomal protein L32, mitochondrial in blood serum def: "The amount of a 39S ribosomal protein L32, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 39S ribosomal protein L32, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042429 name: level of 39S ribosomal protein L33, mitochondrial in blood serum def: "The amount of a 39S ribosomal protein L33, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 39S ribosomal protein L33, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042430 name: level of 39S ribosomal protein L34, mitochondrial in blood serum def: "The amount of a 39S ribosomal protein L34, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 39S ribosomal protein L34, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042431 name: level of 39S ribosomal protein L38, mitochondrial in blood serum def: "The amount of a 39S ribosomal protein L38, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 39S ribosomal protein L38, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042432 name: level of 39S ribosomal protein L52, mitochondrial in blood serum def: "The amount of a 39S ribosomal protein L52, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 39S ribosomal protein L52, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042433 name: level of 39S ribosomal protein L55, mitochondrial in blood serum def: "The amount of a 39S ribosomal protein L55, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 39S ribosomal protein L55, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042434 name: level of 28S ribosomal protein S14, mitochondrial in blood serum def: "The amount of a 28S ribosomal protein S14, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 28S ribosomal protein S14, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042435 name: level of ribosome-recycling factor, mitochondrial in blood serum def: "The amount of a ribosome-recycling factor, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ribosome-recycling factor, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042436 name: level of mRNA turnover protein 4 in blood serum def: "The amount of a mRNA turnover protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mRNA turnover protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042437 name: level of inositol 1,4,5-triphosphate receptor associated 1 in blood serum def: "The amount of a inositol 1,4,5-triphosphate receptor associated 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum inositol 1,4,5-triphosphate receptor associated 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042438 name: level of musculin in blood serum def: "The amount of a musculin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum musculin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042439 name: level of DNA mismatch repair protein Msh2 in blood serum def: "The amount of a DNA mismatch repair protein Msh2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA mismatch repair protein Msh2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042440 name: level of RNA-binding protein Musashi homolog 2 in blood serum def: "The amount of a RNA-binding protein Musashi homolog 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RNA-binding protein Musashi homolog 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042441 name: level of prostate-associated microseminoprotein in blood serum def: "The amount of a prostate-associated microseminoprotein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum prostate-associated microseminoprotein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042442 name: level of peptide methionine sulfoxide reductase in blood serum def: "The amount of a peptide methionine sulfoxide reductase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum peptide methionine sulfoxide reductase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042443 name: level of methionine-R-sulfoxide reductase B2, mitochondrial in blood serum def: "The amount of a methionine-R-sulfoxide reductase B2, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum methionine-R-sulfoxide reductase B2, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042444 name: level of methionine-R-sulfoxide reductase B3, mitochondrial in blood serum def: "The amount of a methionine-R-sulfoxide reductase B3, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum methionine-R-sulfoxide reductase B3, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042445 name: level of homeobox protein MSX-2 in blood serum def: "The amount of a homeobox protein MSX-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum homeobox protein MSX-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042446 name: level of S-methyl-5'-thioadenosine phosphorylase in blood serum def: "The amount of a S-methyl-5'-thioadenosine phosphorylase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum S-methyl-5'-thioadenosine phosphorylase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042447 name: level of mitochondrial fission regulator 1 in blood serum def: "The amount of a mitochondrial fission regulator 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mitochondrial fission regulator 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042448 name: level of C-1-tetrahydrofolate synthase, cytoplasmic in blood serum def: "The amount of a C-1-tetrahydrofolate synthase, cytoplasmic when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum C-1-tetrahydrofolate synthase, cytoplasmic amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042449 name: level of bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial in blood serum def: "The amount of a bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042450 name: level of 5-formyltetrahydrofolate cyclo-ligase MTHFS in blood serum def: "The amount of a 5-formyltetrahydrofolate cyclo-ligase MTHFS when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 5-formyltetrahydrofolate cyclo-ligase MTHFS amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042451 name: level of translation initiation factor IF-3, mitochondrial in blood serum def: "The amount of a translation initiation factor IF-3, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum translation initiation factor IF-3, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042452 name: level of myotubularin-related protein 1 in blood serum def: "The amount of a myotubularin-related protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum myotubularin-related protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042453 name: level of myotubularin-related protein 6 in blood serum def: "The amount of a myotubularin-related protein 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum myotubularin-related protein 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042454 name: level of myotubularin-related protein 7 in blood serum def: "The amount of a myotubularin-related protein 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum myotubularin-related protein 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042455 name: level of poly(A) RNA polymerase, mitochondrial in blood serum def: "The amount of a poly(A) RNA polymerase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum poly(A) RNA polymerase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042456 name: level of peptide chain release factor 1-like, mitochondrial in blood serum def: "The amount of a peptide chain release factor 1-like, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum peptide chain release factor 1-like, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042457 name: level of protein MTSS 2 in blood serum def: "The amount of a protein MTSS 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein MTSS 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042458 name: level of metaxin-2 in blood serum def: "The amount of a metaxin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum metaxin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042459 name: level of mucin-16 in blood serum def: "The amount of a mucin-16 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mucin-16 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042460 name: level of mucin-like protein 1 in blood serum def: "The amount of a mucin-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mucin-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042461 name: level of PWWP domain-containing DNA repair factor 3A in blood serum def: "The amount of a PWWP domain-containing DNA repair factor 3A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PWWP domain-containing DNA repair factor 3A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042462 name: level of cadherin-related family member 5 in blood serum def: "The amount of a cadherin-related family member 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cadherin-related family member 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042463 name: level of muscle, skeletal receptor tyrosine-protein kinase in blood serum def: "The amount of a muscle, skeletal receptor tyrosine-protein kinase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum muscle, skeletal receptor tyrosine-protein kinase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042464 name: level of musculoskeletal embryonic nuclear protein 1 in blood serum def: "The amount of a musculoskeletal embryonic nuclear protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum musculoskeletal embryonic nuclear protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042465 name: level of protein Muted in blood serum def: "The amount of a protein Muted when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein Muted amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042466 name: level of adenine DNA glycosylase MUTYH in blood serum def: "The amount of a adenine DNA glycosylase MUTYH when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum adenine DNA glycosylase MUTYH amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042467 name: level of diphosphomevalonate decarboxylase in blood serum def: "The amount of a diphosphomevalonate decarboxylase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum diphosphomevalonate decarboxylase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042468 name: level of major vault protein in blood serum def: "The amount of a major vault protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum major vault protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042469 name: level of interferon-induced GTP-binding protein Mx1 in blood serum def: "The amount of a interferon-induced GTP-binding protein Mx1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interferon-induced GTP-binding protein Mx1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042470 name: level of max-interacting protein 1 in blood serum def: "The amount of a max-interacting protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum max-interacting protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042471 name: level of matrix-remodeling-associated protein 7 in blood serum def: "The amount of a matrix-remodeling-associated protein 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum matrix-remodeling-associated protein 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042472 name: level of myb proto-oncogene protein in blood serum def: "The amount of a myb proto-oncogene protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum myb proto-oncogene protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042473 name: level of myosin-binding protein C, slow-type in blood serum def: "The amount of a myosin-binding protein C, slow-type when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum myosin-binding protein C, slow-type amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042474 name: level of myosin-binding protein C, fast-type in blood serum def: "The amount of a myosin-binding protein C, fast-type when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum myosin-binding protein C, fast-type amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042475 name: level of myosin-binding protein C, cardiac-type in blood serum def: "The amount of a myosin-binding protein C, cardiac-type when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum myosin-binding protein C, cardiac-type amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042476 name: level of myosin-binding protein H in blood serum def: "The amount of a myosin-binding protein H when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum myosin-binding protein H amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042477 name: level of c-Myc-binding protein in blood serum def: "The amount of a c-Myc-binding protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum c-Myc-binding protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042478 name: level of Myc target protein 1 in blood serum def: "The amount of a Myc target protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Myc target protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042479 name: level of myosin light chain 4 in blood serum def: "The amount of a myosin light chain 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum myosin light chain 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042480 name: level of myosin light chain 5 in blood serum def: "The amount of a myosin light chain 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum myosin light chain 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042481 name: level of myosin light polypeptide 6 in blood serum def: "The amount of a myosin light polypeptide 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum myosin light polypeptide 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042482 name: level of myosin light chain 6B in blood serum def: "The amount of a myosin light chain 6B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum myosin light chain 6B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042483 name: level of myosin regulatory light chain 2, atrial isoform in blood serum def: "The amount of a myosin regulatory light chain 2, atrial isoform when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum myosin regulatory light chain 2, atrial isoform amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042484 name: level of myosin regulatory light chain 12B in blood serum def: "The amount of a myosin regulatory light chain 12B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum myosin regulatory light chain 12B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042485 name: level of myosin regulatory light chain 11 in blood serum def: "The amount of a myosin regulatory light chain 11 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum myosin regulatory light chain 11 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042486 name: level of myoneurin in blood serum def: "The amount of a myoneurin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum myoneurin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042487 name: level of myosin-VI in blood serum def: "The amount of a myosin-VI when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum myosin-VI amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042488 name: level of myocilin in blood serum def: "The amount of a myocilin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum myocilin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042489 name: level of myomesin-2 in blood serum def: "The amount of a myomesin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum myomesin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042490 name: level of myomesin-3 in blood serum def: "The amount of a myomesin-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum myomesin-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042491 name: level of deubiquitinase MYSM1 in blood serum def: "The amount of a deubiquitinase MYSM1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum deubiquitinase MYSM1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042492 name: level of myeloid zinc finger 1 in blood serum def: "The amount of a myeloid zinc finger 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum myeloid zinc finger 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042493 name: level of NEDD4-binding protein 2-like 2 in blood serum def: "The amount of a NEDD4-binding protein 2-like 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NEDD4-binding protein 2-like 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042494 name: level of EEF1A lysine methyltransferase 1 in blood serum def: "The amount of a EEF1A lysine methyltransferase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum EEF1A lysine methyltransferase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042495 name: level of N-acetylated-alpha-linked acidic dipeptidase 2 in blood serum def: "The amount of a N-acetylated-alpha-linked acidic dipeptidase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum N-acetylated-alpha-linked acidic dipeptidase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042496 name: level of aminopeptidase NAALADL1 in blood serum def: "The amount of a aminopeptidase NAALADL1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum aminopeptidase NAALADL1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042497 name: level of NGFI-A-binding protein 2 in blood serum def: "The amount of a NGFI-A-binding protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NGFI-A-binding protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042498 name: level of NAD kinase in blood serum def: "The amount of a NAD kinase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NAD kinase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042499 name: level of NEDD8-activating enzyme E1 regulatory subunit in blood serum def: "The amount of a NEDD8-activating enzyme E1 regulatory subunit when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NEDD8-activating enzyme E1 regulatory subunit amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042500 name: level of alpha-N-acetylglucosaminidase in blood serum def: "The amount of a alpha-N-acetylglucosaminidase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-N-acetylglucosaminidase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042501 name: level of N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase in blood serum def: "The amount of a N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042502 name: level of N-acetylglutamate synthase, mitochondrial in blood serum def: "The amount of a N-acetylglutamate synthase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum N-acetylglutamate synthase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042503 name: level of nuclear apoptosis-inducing factor 1 in blood serum def: "The amount of a nuclear apoptosis-inducing factor 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nuclear apoptosis-inducing factor 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042504 name: level of N-acylneuraminate-9-phosphatase in blood serum def: "The amount of a N-acylneuraminate-9-phosphatase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum N-acylneuraminate-9-phosphatase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042505 name: level of sialic acid synthase in blood serum def: "The amount of a sialic acid synthase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sialic acid synthase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042506 name: level of nucleosome assembly protein 1-like 1 in blood serum def: "The amount of a nucleosome assembly protein 1-like 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nucleosome assembly protein 1-like 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042507 name: level of nucleosome assembly protein 1-like 2 in blood serum def: "The amount of a nucleosome assembly protein 1-like 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nucleosome assembly protein 1-like 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042508 name: level of nucleosome assembly protein 1-like 4 in blood serum def: "The amount of a nucleosome assembly protein 1-like 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nucleosome assembly protein 1-like 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042509 name: level of beta-soluble NSF attachment protein in blood serum def: "The amount of a beta-soluble NSF attachment protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-soluble NSF attachment protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042510 name: level of N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D in blood serum def: "The amount of a N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042511 name: level of gamma-soluble NSF attachment protein in blood serum def: "The amount of a gamma-soluble NSF attachment protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum gamma-soluble NSF attachment protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042512 name: level of nuclear prelamin A recognition factor in blood serum def: "The amount of a nuclear prelamin A recognition factor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nuclear prelamin A recognition factor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042513 name: level of asparagine--tRNA ligase, cytoplasmic in blood serum def: "The amount of a asparagine--tRNA ligase, cytoplasmic when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum asparagine--tRNA ligase, cytoplasmic amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042514 name: level of arylamine N-acetyltransferase 1 in blood serum def: "The amount of a arylamine N-acetyltransferase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum arylamine N-acetyltransferase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042515 name: level of N-alpha-acetyltransferase 50 in blood serum def: "The amount of a N-alpha-acetyltransferase 50 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum N-alpha-acetyltransferase 50 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042516 name: level of probable N-acetyltransferase 14 in blood serum def: "The amount of a probable N-acetyltransferase 14 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum probable N-acetyltransferase 14 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042517 name: level of N-alpha-acetyltransferase 20 in blood serum def: "The amount of a N-alpha-acetyltransferase 20 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum N-alpha-acetyltransferase 20 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042518 name: level of N-alpha-acetyltransferase 80 in blood serum def: "The amount of a N-alpha-acetyltransferase 80 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum N-alpha-acetyltransferase 80 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042519 name: level of next to BRCA1 gene 1 protein in blood serum def: "The amount of a next to BRCA1 gene 1 protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum next to BRCA1 gene 1 protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042520 name: level of neurocalcin-delta in blood serum def: "The amount of a neurocalcin-delta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neurocalcin-delta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042521 name: level of neural cell adhesion molecule 2 in blood serum def: "The amount of a neural cell adhesion molecule 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neural cell adhesion molecule 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042522 name: level of neurocan core protein in blood serum def: "The amount of a neurocan core protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neurocan core protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042523 name: level of nuclear cap-binding protein subunit 1 in blood serum def: "The amount of a nuclear cap-binding protein subunit 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nuclear cap-binding protein subunit 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042524 name: level of nuclear cap-binding protein subunit 2 in blood serum def: "The amount of a nuclear cap-binding protein subunit 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nuclear cap-binding protein subunit 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042525 name: level of neutrophil cytosol factor 1 in blood serum def: "The amount of a neutrophil cytosol factor 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neutrophil cytosol factor 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042526 name: level of neutrophil cytosol factor 2 in blood serum def: "The amount of a neutrophil cytosol factor 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neutrophil cytosol factor 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042527 name: level of cytoplasmic protein NCK2 in blood serum def: "The amount of a cytoplasmic protein NCK2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cytoplasmic protein NCK2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042528 name: level of NCK-interacting protein with SH3 domain in blood serum def: "The amount of a NCK-interacting protein with SH3 domain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NCK-interacting protein with SH3 domain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042529 name: level of nucleolin in blood serum def: "The amount of a nucleolin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nucleolin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042530 name: level of nuclear receptor coactivator 2 in blood serum def: "The amount of a nuclear receptor coactivator 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nuclear receptor coactivator 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042531 name: level of nuclear receptor coactivator 7 in blood serum def: "The amount of a nuclear receptor coactivator 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nuclear receptor coactivator 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042532 name: level of kinetochore protein NDC80 in blood serum def: "The amount of a kinetochore protein NDC80 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum kinetochore protein NDC80 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042533 name: level of nuclear distribution protein nudE homolog 1 in blood serum def: "The amount of a nuclear distribution protein nudE homolog 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nuclear distribution protein nudE homolog 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042534 name: level of nuclear distribution protein nudE-like 1 in blood serum def: "The amount of a nuclear distribution protein nudE-like 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nuclear distribution protein nudE-like 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042535 name: level of norrin in blood serum def: "The amount of a norrin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum norrin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042536 name: level of protein NDRG2 in blood serum def: "The amount of a protein NDRG2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein NDRG2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042537 name: level of protein NDRG3 in blood serum def: "The amount of a protein NDRG3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein NDRG3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042538 name: level of protein NDRG4 in blood serum def: "The amount of a protein NDRG4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein NDRG4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042539 name: level of bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 in blood serum def: "The amount of a bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042540 name: level of NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2 in blood serum def: "The amount of a NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042541 name: level of NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 in blood serum def: "The amount of a NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042542 name: level of NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2 in blood serum def: "The amount of a NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042543 name: level of NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10 in blood serum def: "The amount of a NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042544 name: level of NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial in blood serum def: "The amount of a NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042545 name: level of NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial in blood serum def: "The amount of a NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042546 name: level of NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial in blood serum def: "The amount of a NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042547 name: level of NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial in blood serum def: "The amount of a NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042548 name: level of N-terminal EF-hand calcium-binding protein 1 in blood serum def: "The amount of a N-terminal EF-hand calcium-binding protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum N-terminal EF-hand calcium-binding protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042549 name: level of N-terminal EF-hand calcium-binding protein 3 in blood serum def: "The amount of a N-terminal EF-hand calcium-binding protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum N-terminal EF-hand calcium-binding protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042550 name: level of adaptin ear-binding coat-associated protein 2 in blood serum def: "The amount of a adaptin ear-binding coat-associated protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum adaptin ear-binding coat-associated protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042551 name: level of NEDD8 protein in blood serum def: "The amount of a NEDD8 protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NEDD8 protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042552 name: level of enhancer of filamentation 1 in blood serum def: "The amount of a enhancer of filamentation 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum enhancer of filamentation 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042553 name: level of neurofilament heavy polypeptide in blood serum def: "The amount of a neurofilament heavy polypeptide when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neurofilament heavy polypeptide amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042554 name: level of neurofilament light polypeptide in blood serum def: "The amount of a neurofilament light polypeptide when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neurofilament light polypeptide amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042555 name: level of endonuclease 8-like 2 in blood serum def: "The amount of a endonuclease 8-like 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum endonuclease 8-like 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042556 name: level of serine/threonine-protein kinase Nek7 in blood serum def: "The amount of a serine/threonine-protein kinase Nek7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine/threonine-protein kinase Nek7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042557 name: level of protein kinase C-binding protein NELL1 in blood serum def: "The amount of a protein kinase C-binding protein NELL1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein kinase C-binding protein NELL1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042558 name: level of protein kinase C-binding protein NELL2 in blood serum def: "The amount of a protein kinase C-binding protein NELL2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein kinase C-binding protein NELL2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042559 name: level of neudesin in blood serum def: "The amount of a neudesin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neudesin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042560 name: level of neogenin in blood serum def: "The amount of a neogenin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neogenin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042561 name: level of neuroepithelial cell-transforming gene 1 protein in blood serum def: "The amount of a neuroepithelial cell-transforming gene 1 protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neuroepithelial cell-transforming gene 1 protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042562 name: level of neuropilin and tolloid-like protein 1 in blood serum def: "The amount of a neuropilin and tolloid-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neuropilin and tolloid-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042563 name: level of neuropilin and tolloid-like protein 2 in blood serum def: "The amount of a neuropilin and tolloid-like protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neuropilin and tolloid-like protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042564 name: level of sialidase-1 in blood serum def: "The amount of a sialidase-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sialidase-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042565 name: level of E3 ubiquitin-protein ligase NEURL1 in blood serum def: "The amount of a E3 ubiquitin-protein ligase NEURL1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 ubiquitin-protein ligase NEURL1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042566 name: level of neurogenin-1 in blood serum def: "The amount of a neurogenin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neurogenin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042567 name: level of neurogenin-3 in blood serum def: "The amount of a neurogenin-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neurogenin-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042568 name: level of neurofascin in blood serum def: "The amount of a neurofascin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neurofascin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042569 name: level of nuclear factor of activated T-cells, cytoplasmic 4 in blood serum def: "The amount of a nuclear factor of activated T-cells, cytoplasmic 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nuclear factor of activated T-cells, cytoplasmic 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042570 name: level of endoplasmic reticulum membrane sensor NFE2L1 in blood serum def: "The amount of a endoplasmic reticulum membrane sensor NFE2L1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum endoplasmic reticulum membrane sensor NFE2L1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042571 name: level of nuclear factor erythroid 2-related factor 2 in blood serum def: "The amount of a nuclear factor erythroid 2-related factor 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nuclear factor erythroid 2-related factor 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042572 name: level of nuclear factor 1 A-type in blood serum def: "The amount of a nuclear factor 1 A-type when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nuclear factor 1 A-type amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042573 name: level of NF-kappa-B inhibitor delta in blood serum def: "The amount of a NF-kappa-B inhibitor delta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NF-kappa-B inhibitor delta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042574 name: level of NFU1 iron-sulfur cluster scaffold, mitochondrial in blood serum def: "The amount of a NFU1 iron-sulfur cluster scaffold, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NFU1 iron-sulfur cluster scaffold, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042575 name: level of nuclear transcription factor Y subunit alpha in blood serum def: "The amount of a nuclear transcription factor Y subunit alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nuclear transcription factor Y subunit alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042576 name: level of neuroguidin in blood serum def: "The amount of a neuroguidin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neuroguidin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042577 name: level of neugrin in blood serum def: "The amount of a neugrin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neugrin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042578 name: level of non-homologous end-joining factor 1 in blood serum def: "The amount of a non-homologous end-joining factor 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum non-homologous end-joining factor 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042579 name: level of H/ACA ribonucleoprotein complex subunit 2 in blood serum def: "The amount of a H/ACA ribonucleoprotein complex subunit 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum H/ACA ribonucleoprotein complex subunit 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042580 name: level of NHP2-like protein 1 in blood serum def: "The amount of a NHP2-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NHP2-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042581 name: level of NIF3-like protein 1 in blood serum def: "The amount of a NIF3-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NIF3-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042582 name: level of 60S ribosome subunit biogenesis protein NIP7 in blood serum def: "The amount of a 60S ribosome subunit biogenesis protein NIP7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 60S ribosome subunit biogenesis protein NIP7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042583 name: level of nischarin in blood serum def: "The amount of a nischarin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nischarin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042584 name: level of omega-amidase NIT2 in blood serum def: "The amount of a omega-amidase NIT2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum omega-amidase NIT2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042585 name: level of protein naked cuticle homolog 2 in blood serum def: "The amount of a protein naked cuticle homolog 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein naked cuticle homolog 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042586 name: level of NF-kappa-B inhibitor-interacting Ras-like protein 1 in blood serum def: "The amount of a NF-kappa-B inhibitor-interacting Ras-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NF-kappa-B inhibitor-interacting Ras-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042587 name: level of NF-kappa-B inhibitor-interacting Ras-like protein 2 in blood serum def: "The amount of a NF-kappa-B inhibitor-interacting Ras-like protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NF-kappa-B inhibitor-interacting Ras-like protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042588 name: level of neuroligin-1 in blood serum def: "The amount of a neuroligin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neuroligin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042589 name: level of neuroligin-3 in blood serum def: "The amount of a neuroligin-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neuroligin-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042590 name: level of neuroligin-4, Y-linked in blood serum def: "The amount of a neuroligin-4, Y-linked when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neuroligin-4, Y-linked amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042591 name: level of NACHT, LRR and PYD domains-containing protein 1 in blood serum def: "The amount of a NACHT, LRR and PYD domains-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NACHT, LRR and PYD domains-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042592 name: level of NACHT, LRR and PYD domains-containing protein 10 in blood serum def: "The amount of a NACHT, LRR and PYD domains-containing protein 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NACHT, LRR and PYD domains-containing protein 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042593 name: level of NACHT, LRR and PYD domains-containing protein 4 in blood serum def: "The amount of a NACHT, LRR and PYD domains-containing protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NACHT, LRR and PYD domains-containing protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042594 name: level of neuromedin-B in blood serum def: "The amount of a neuromedin-B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neuromedin-B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042595 name: level of nucleoside diphosphate kinase, mitochondrial in blood serum def: "The amount of a nucleoside diphosphate kinase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nucleoside diphosphate kinase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042596 name: level of nucleoside diphosphate kinase 7 in blood serum def: "The amount of a nucleoside diphosphate kinase 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nucleoside diphosphate kinase 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042597 name: level of normal mucosa of esophagus-specific gene 1 protein in blood serum def: "The amount of a normal mucosa of esophagus-specific gene 1 protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum normal mucosa of esophagus-specific gene 1 protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042598 name: level of N-myc-interactor in blood serum def: "The amount of a N-myc-interactor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum N-myc-interactor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042599 name: level of nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 in blood serum def: "The amount of a nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042600 name: level of neuromedin-S in blood serum def: "The amount of a neuromedin-S when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neuromedin-S amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042601 name: level of glycylpeptide N-tetradecanoyltransferase 2 in blood serum def: "The amount of a glycylpeptide N-tetradecanoyltransferase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glycylpeptide N-tetradecanoyltransferase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042602 name: level of neuromedin-U in blood serum def: "The amount of a neuromedin-U when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neuromedin-U amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042603 name: level of nicotinamide N-methyltransferase in blood serum def: "The amount of a nicotinamide N-methyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nicotinamide N-methyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042604 name: level of nodal modulator 2 in blood serum def: "The amount of a nodal modulator 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nodal modulator 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042605 name: level of non-POU domain-containing octamer-binding protein in blood serum def: "The amount of a non-POU domain-containing octamer-binding protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum non-POU domain-containing octamer-binding protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042606 name: level of nucleolar protein 16 in blood serum def: "The amount of a nucleolar protein 16 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nucleolar protein 16 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042607 name: level of nitric oxide synthase, endothelial in blood serum def: "The amount of a nitric oxide synthase, endothelial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nitric oxide synthase, endothelial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042608 name: level of nitric oxide synthase-interacting protein in blood serum def: "The amount of a nitric oxide synthase-interacting protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nitric oxide synthase-interacting protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042609 name: level of protein notum in blood serum def: "The amount of a protein notum when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein notum amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042610 name: level of RNA-binding protein Nova-1 in blood serum def: "The amount of a RNA-binding protein Nova-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RNA-binding protein Nova-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042611 name: level of purine nucleoside phosphorylase in blood serum def: "The amount of a purine nucleoside phosphorylase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum purine nucleoside phosphorylase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042612 name: level of neural proliferation differentiation and control protein 1 in blood serum def: "The amount of a neural proliferation differentiation and control protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neural proliferation differentiation and control protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042613 name: level of FMRFamide-related neuropeptide FF in blood serum def: "The amount of a FMRFamide-related neuropeptide FF when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum FMRFamide-related neuropeptide FF amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042614 name: level of N-acetylneuraminate lyase in blood serum def: "The amount of a N-acetylneuraminate lyase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum N-acetylneuraminate lyase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042615 name: level of nuclear protein localization protein 4 in blood serum def: "The amount of a nuclear protein localization protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nuclear protein localization protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042616 name: level of nucleophosmin in blood serum def: "The amount of a nucleophosmin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nucleophosmin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042617 name: level of nucleoplasmin-2 in blood serum def: "The amount of a nucleoplasmin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nucleoplasmin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042618 name: level of nephronectin in blood serum def: "The amount of a nephronectin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nephronectin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042619 name: level of C-type natriuretic peptide in blood serum def: "The amount of a C-type natriuretic peptide when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum C-type natriuretic peptide amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042620 name: level of neuropeptide S in blood serum def: "The amount of a neuropeptide S when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neuropeptide S amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042621 name: level of neuroplastin in blood serum def: "The amount of a neuroplastin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neuroplastin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042622 name: level of neuronal pentraxin-1 in blood serum def: "The amount of a neuronal pentraxin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neuronal pentraxin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042623 name: level of neuronal pentraxin-2 in blood serum def: "The amount of a neuronal pentraxin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neuronal pentraxin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042624 name: level of neuronal pentraxin receptor in blood serum def: "The amount of a neuronal pentraxin receptor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neuronal pentraxin receptor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042625 name: level of neuropeptide Y in blood serum def: "The amount of a neuropeptide Y when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neuropeptide Y amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042626 name: level of NAD(P)H dehydrogenase [quinone] 1 in blood serum def: "The amount of a NAD(P)H dehydrogenase [quinone] 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NAD(P)H dehydrogenase [quinone] 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042627 name: level of ribosyldihydronicotinamide dehydrogenase [quinone] in blood serum def: "The amount of a ribosyldihydronicotinamide dehydrogenase [quinone] when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ribosyldihydronicotinamide dehydrogenase [quinone] amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042628 name: level of nuclear receptor subfamily 1 group D member 2 in blood serum def: "The amount of a nuclear receptor subfamily 1 group D member 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nuclear receptor subfamily 1 group D member 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042629 name: level of oxysterols receptor LXR-beta in blood serum def: "The amount of a oxysterols receptor LXR-beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum oxysterols receptor LXR-beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042630 name: level of bile acid receptor in blood serum def: "The amount of a bile acid receptor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum bile acid receptor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042631 name: level of nuclear receptor 2C2-associated protein in blood serum def: "The amount of a nuclear receptor 2C2-associated protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nuclear receptor 2C2-associated protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042632 name: level of nuclear receptor subfamily 4 group A member 1 in blood serum def: "The amount of a nuclear receptor subfamily 4 group A member 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nuclear receptor subfamily 4 group A member 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042633 name: level of nuclear receptor subfamily 5 group A member 2 in blood serum def: "The amount of a nuclear receptor subfamily 5 group A member 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nuclear receptor subfamily 5 group A member 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042634 name: level of GTPase NRas in blood serum def: "The amount of a GTPase NRas when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum GTPase NRas amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042635 name: level of nuclear receptor-binding factor 2 in blood serum def: "The amount of a nuclear receptor-binding factor 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nuclear receptor-binding factor 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042636 name: level of nuclear receptor-binding protein in blood serum def: "The amount of a nuclear receptor-binding protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nuclear receptor-binding protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042637 name: level of pro-neuregulin-2, membrane-bound isoform in blood serum def: "The amount of a pro-neuregulin-2, membrane-bound isoform when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pro-neuregulin-2, membrane-bound isoform amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042638 name: level of pro-neuregulin-3, membrane-bound isoform in blood serum def: "The amount of a pro-neuregulin-3, membrane-bound isoform when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pro-neuregulin-3, membrane-bound isoform amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042639 name: level of neurogranin in blood serum def: "The amount of a neurogranin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neurogranin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042640 name: level of nuclear receptor-interacting protein 3 in blood serum def: "The amount of a nuclear receptor-interacting protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nuclear receptor-interacting protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042641 name: level of neuritin-like protein in blood serum def: "The amount of a neuritin-like protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neuritin-like protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042642 name: level of neuropilin-2 in blood serum def: "The amount of a neuropilin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neuropilin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042643 name: level of neurensin-1 in blood serum def: "The amount of a neurensin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neurensin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042644 name: level of sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating in blood serum def: "The amount of a sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042645 name: level of vesicle-fusing ATPase in blood serum def: "The amount of a vesicle-fusing ATPase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum vesicle-fusing ATPase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042646 name: level of non-structural maintenance of chromosomes element 1 in blood serum def: "The amount of a non-structural maintenance of chromosomes element 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum non-structural maintenance of chromosomes element 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042647 name: level of E3 SUMO-protein ligase NSE2 in blood serum def: "The amount of a E3 SUMO-protein ligase NSE2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 SUMO-protein ligase NSE2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042648 name: level of 5'(3')-deoxyribonucleotidase, cytosolic type in blood serum def: "The amount of a 5'(3')-deoxyribonucleotidase, cytosolic type when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 5'(3')-deoxyribonucleotidase, cytosolic type amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042649 name: level of cytosolic purine 5'-nucleotidase in blood serum def: "The amount of a cytosolic purine 5'-nucleotidase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cytosolic purine 5'-nucleotidase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042650 name: level of cytosolic 5'-nucleotidase 3A in blood serum def: "The amount of a cytosolic 5'-nucleotidase 3A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cytosolic 5'-nucleotidase 3A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042651 name: level of 7-methylguanosine phosphate-specific 5'-nucleotidase in blood serum def: "The amount of a 7-methylguanosine phosphate-specific 5'-nucleotidase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 7-methylguanosine phosphate-specific 5'-nucleotidase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042652 name: level of 5'(3')-deoxyribonucleotidase, mitochondrial in blood serum def: "The amount of a 5'(3')-deoxyribonucleotidase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 5'(3')-deoxyribonucleotidase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042653 name: level of protein N-terminal asparagine amidohydrolase in blood serum def: "The amount of a protein N-terminal asparagine amidohydrolase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein N-terminal asparagine amidohydrolase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042654 name: level of neurotrimin in blood serum def: "The amount of a neurotrimin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neurotrimin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042655 name: level of netrin-G1 in blood serum def: "The amount of a netrin-G1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum netrin-G1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042656 name: level of neurotensin/neuromedin N in blood serum def: "The amount of a neurotensin/neuromedin N when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neurotensin/neuromedin N amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042657 name: level of NEDD8 ultimate buster 1 in blood serum def: "The amount of a NEDD8 ultimate buster 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NEDD8 ultimate buster 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042658 name: level of cytosolic Fe-S cluster assembly factor NUBP1 in blood serum def: "The amount of a cytosolic Fe-S cluster assembly factor NUBP1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cytosolic Fe-S cluster assembly factor NUBP1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042659 name: level of cytosolic Fe-S cluster assembly factor NUBP2 in blood serum def: "The amount of a cytosolic Fe-S cluster assembly factor NUBP2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cytosolic Fe-S cluster assembly factor NUBP2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042660 name: level of nucleobindin-1 in blood serum def: "The amount of a nucleobindin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nucleobindin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042661 name: level of nucleobindin-2 in blood serum def: "The amount of a nucleobindin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nucleobindin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042662 name: level of oxidized purine nucleoside triphosphate hydrolase in blood serum def: "The amount of a oxidized purine nucleoside triphosphate hydrolase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum oxidized purine nucleoside triphosphate hydrolase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042663 name: level of diphosphoinositol polyphosphate phosphohydrolase 3-alpha in blood serum def: "The amount of a diphosphoinositol polyphosphate phosphohydrolase 3-alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum diphosphoinositol polyphosphate phosphohydrolase 3-alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042664 name: level of diphosphoinositol polyphosphate phosphohydrolase 3-beta in blood serum def: "The amount of a diphosphoinositol polyphosphate phosphohydrolase 3-beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum diphosphoinositol polyphosphate phosphohydrolase 3-beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042665 name: level of NAD-capped RNA hydrolase NUDT12 in blood serum def: "The amount of a NAD-capped RNA hydrolase NUDT12 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NAD-capped RNA hydrolase NUDT12 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042666 name: level of uridine diphosphate glucose pyrophosphatase NUDT14 in blood serum def: "The amount of a uridine diphosphate glucose pyrophosphatase NUDT14 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum uridine diphosphate glucose pyrophosphatase NUDT14 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042667 name: level of U8 snoRNA-decapping enzyme in blood serum def: "The amount of a U8 snoRNA-decapping enzyme when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum U8 snoRNA-decapping enzyme amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042668 name: level of tudor-interacting repair regulator protein in blood serum def: "The amount of a tudor-interacting repair regulator protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tudor-interacting repair regulator protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042669 name: level of bis(5'-nucleosyl)-tetraphosphatase [asymmetrical] in blood serum def: "The amount of a bis(5'-nucleosyl)-tetraphosphatase [asymmetrical] when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum bis(5'-nucleosyl)-tetraphosphatase [asymmetrical] amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042670 name: level of cleavage and polyadenylation specificity factor subunit 5 in blood serum def: "The amount of a cleavage and polyadenylation specificity factor subunit 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cleavage and polyadenylation specificity factor subunit 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042671 name: level of diphosphoinositol polyphosphate phosphohydrolase 1 in blood serum def: "The amount of a diphosphoinositol polyphosphate phosphohydrolase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum diphosphoinositol polyphosphate phosphohydrolase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042672 name: level of ADP-sugar pyrophosphatase in blood serum def: "The amount of a ADP-sugar pyrophosphatase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ADP-sugar pyrophosphatase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042673 name: level of peroxisomal coenzyme A diphosphatase NUDT7 in blood serum def: "The amount of a peroxisomal coenzyme A diphosphatase NUDT7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum peroxisomal coenzyme A diphosphatase NUDT7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042674 name: level of ADP-ribose pyrophosphatase, mitochondrial in blood serum def: "The amount of a ADP-ribose pyrophosphatase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ADP-ribose pyrophosphatase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042675 name: level of protein numb in blood serum def: "The amount of a protein numb when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein numb amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042676 name: level of Numb-like protein in blood serum def: "The amount of a Numb-like protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Numb-like protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042677 name: level of nuclear pore membrane glycoprotein 210-like in blood serum def: "The amount of a nuclear pore membrane glycoprotein 210-like when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nuclear pore membrane glycoprotein 210-like amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042678 name: level of nuclear pore complex protein Nup98-Nup96 in blood serum def: "The amount of a nuclear pore complex protein Nup98-Nup96 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nuclear pore complex protein Nup98-Nup96 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042679 name: level of nuclear transport factor 2 in blood serum def: "The amount of a nuclear transport factor 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nuclear transport factor 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042680 name: level of nuclear valosin-containing protein-like in blood serum def: "The amount of a nuclear valosin-containing protein-like when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nuclear valosin-containing protein-like amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042681 name: level of nuclear RNA export factor 1 in blood serum def: "The amount of a nuclear RNA export factor 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nuclear RNA export factor 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042682 name: level of neurexophilin-2 in blood serum def: "The amount of a neurexophilin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neurexophilin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042683 name: level of NTF2-related export protein 1 in blood serum def: "The amount of a NTF2-related export protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NTF2-related export protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042684 name: level of NTF2-related export protein 2 in blood serum def: "The amount of a NTF2-related export protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NTF2-related export protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042685 name: level of out at first protein in blood serum def: "The amount of a out at first protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum out at first protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042686 name: level of ornithine decarboxylase antizyme in blood serum def: "The amount of a ornithine decarboxylase antizyme when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ornithine decarboxylase antizyme amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042687 name: level of SOSS complex subunit B2 in blood serum def: "The amount of a SOSS complex subunit B2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SOSS complex subunit B2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042688 name: level of odorant-binding protein 2a in blood serum def: "The amount of a odorant-binding protein 2a when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum odorant-binding protein 2a amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042689 name: level of odorant-binding protein 2b in blood serum def: "The amount of a odorant-binding protein 2b when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum odorant-binding protein 2b amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042690 name: level of inositol polyphosphate 5-phosphatase OCRL in blood serum def: "The amount of a inositol polyphosphate 5-phosphatase OCRL when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum inositol polyphosphate 5-phosphatase OCRL amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042691 name: level of ornithine decarboxylase in blood serum def: "The amount of a ornithine decarboxylase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ornithine decarboxylase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042692 name: level of teneurin-2 in blood serum def: "The amount of a teneurin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum teneurin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042693 name: level of teneurin-3 in blood serum def: "The amount of a teneurin-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum teneurin-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042694 name: level of teneurin-4 in blood serum def: "The amount of a teneurin-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum teneurin-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042695 name: level of opioid growth factor receptor in blood serum def: "The amount of a opioid growth factor receptor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum opioid growth factor receptor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042696 name: level of mimecan in blood serum def: "The amount of a mimecan when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mimecan amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042697 name: level of UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit in blood serum def: "The amount of a UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042698 name: level of oncoprotein-induced transcript 3 protein in blood serum def: "The amount of a oncoprotein-induced transcript 3 protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum oncoprotein-induced transcript 3 protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042699 name: level of obg-like ATPase 1 in blood serum def: "The amount of a obg-like ATPase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum obg-like ATPase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042700 name: level of S-acyl fatty acid synthase thioesterase, medium chain in blood serum def: "The amount of a S-acyl fatty acid synthase thioesterase, medium chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum S-acyl fatty acid synthase thioesterase, medium chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042701 name: level of noelin in blood serum def: "The amount of a noelin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum noelin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042702 name: level of noelin-2 in blood serum def: "The amount of a noelin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum noelin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042703 name: level of olfactomedin-like protein 1 in blood serum def: "The amount of a olfactomedin-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum olfactomedin-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042704 name: level of olfactomedin-like protein 3 in blood serum def: "The amount of a olfactomedin-like protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum olfactomedin-like protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042705 name: level of oligodendrocyte transcription factor 1 in blood serum def: "The amount of a oligodendrocyte transcription factor 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum oligodendrocyte transcription factor 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042706 name: level of oligodendrocyte-myelin glycoprotein in blood serum def: "The amount of a oligodendrocyte-myelin glycoprotein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum oligodendrocyte-myelin glycoprotein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042707 name: level of olfactory marker protein in blood serum def: "The amount of a olfactory marker protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum olfactory marker protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042708 name: level of oligophrenin-1 in blood serum def: "The amount of a oligophrenin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum oligophrenin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042709 name: level of protein LTO1 homolog in blood serum def: "The amount of a protein LTO1 homolog when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein LTO1 homolog amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042710 name: level of origin recognition complex subunit 6 in blood serum def: "The amount of a origin recognition complex subunit 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum origin recognition complex subunit 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042711 name: level of oxysterol-binding protein 1 in blood serum def: "The amount of a oxysterol-binding protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum oxysterol-binding protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042712 name: level of oxysterol-binding protein-related protein 11 in blood serum def: "The amount of a oxysterol-binding protein-related protein 11 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum oxysterol-binding protein-related protein 11 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042713 name: level of oxysterol-binding protein-related protein 1 in blood serum def: "The amount of a oxysterol-binding protein-related protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum oxysterol-binding protein-related protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042714 name: level of oxysterol-binding protein-related protein 9 in blood serum def: "The amount of a oxysterol-binding protein-related protein 9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum oxysterol-binding protein-related protein 9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042715 name: level of osteoclast-associated immunoglobulin-like receptor in blood serum def: "The amount of a osteoclast-associated immunoglobulin-like receptor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum osteoclast-associated immunoglobulin-like receptor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042716 name: level of osteoclast-stimulating factor 1 in blood serum def: "The amount of a osteoclast-stimulating factor 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum osteoclast-stimulating factor 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042717 name: level of osteopetrosis-associated transmembrane protein 1 in blood serum def: "The amount of a osteopetrosis-associated transmembrane protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum osteopetrosis-associated transmembrane protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042718 name: level of osteocrin in blood serum def: "The amount of a osteocrin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum osteocrin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042719 name: level of ornithine transcarbamylase, mitochondrial in blood serum def: "The amount of a ornithine transcarbamylase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ornithine transcarbamylase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042720 name: level of otoraplin in blood serum def: "The amount of a otoraplin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum otoraplin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042721 name: level of ubiquitin thioesterase OTUB2 in blood serum def: "The amount of a ubiquitin thioesterase OTUB2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin thioesterase OTUB2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042722 name: level of OTU domain-containing protein 7B in blood serum def: "The amount of a OTU domain-containing protein 7B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum OTU domain-containing protein 7B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042723 name: level of homeobox protein OTX1 in blood serum def: "The amount of a homeobox protein OTX1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum homeobox protein OTX1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042724 name: level of homeobox protein OTX2 in blood serum def: "The amount of a homeobox protein OTX2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum homeobox protein OTX2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042725 name: level of esterase OVCA2 in blood serum def: "The amount of a esterase OVCA2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum esterase OVCA2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042726 name: level of succinyl-CoA:3-ketoacid-coenzyme A transferase 1, mitochondrial in blood serum def: "The amount of a succinyl-CoA:3-ketoacid-coenzyme A transferase 1, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum succinyl-CoA:3-ketoacid-coenzyme A transferase 1, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042727 name: level of 3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial in blood serum def: "The amount of a 3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042728 name: level of serine/threonine-protein kinase OSR1 in blood serum def: "The amount of a serine/threonine-protein kinase OSR1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine/threonine-protein kinase OSR1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042729 name: level of oxytocin-neurophysin 1 in blood serum def: "The amount of a oxytocin-neurophysin 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum oxytocin-neurophysin 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042730 name: level of P2X purinoceptor 6 in blood serum def: "The amount of a P2X purinoceptor 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum P2X purinoceptor 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042731 name: level of prolyl 4-hydroxylase subunit alpha-1 in blood serum def: "The amount of a prolyl 4-hydroxylase subunit alpha-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum prolyl 4-hydroxylase subunit alpha-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042732 name: level of prolyl 4-hydroxylase subunit alpha-2 in blood serum def: "The amount of a prolyl 4-hydroxylase subunit alpha-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum prolyl 4-hydroxylase subunit alpha-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042733 name: level of PAXIP1-associated glutamate-rich protein 1 in blood serum def: "The amount of a PAXIP1-associated glutamate-rich protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PAXIP1-associated glutamate-rich protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042734 name: level of polyadenylate-binding protein 3 in blood serum def: "The amount of a polyadenylate-binding protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum polyadenylate-binding protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042735 name: level of polyadenylate-binding protein 4 in blood serum def: "The amount of a polyadenylate-binding protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum polyadenylate-binding protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042736 name: level of polyadenylate-binding protein 5 in blood serum def: "The amount of a polyadenylate-binding protein 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum polyadenylate-binding protein 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042737 name: level of polyadenylate-binding protein 2 in blood serum def: "The amount of a polyadenylate-binding protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum polyadenylate-binding protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042738 name: level of proapoptotic caspase adapter protein in blood serum def: "The amount of a proapoptotic caspase adapter protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum proapoptotic caspase adapter protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042739 name: level of protein kinase C and casein kinase substrate in neurons protein 1 in blood serum def: "The amount of a protein kinase C and casein kinase substrate in neurons protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein kinase C and casein kinase substrate in neurons protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042740 name: level of protein kinase C and casein kinase substrate in neurons protein 2 in blood serum def: "The amount of a protein kinase C and casein kinase substrate in neurons protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein kinase C and casein kinase substrate in neurons protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042741 name: level of protein-arginine deiminase type-2 in blood serum def: "The amount of a protein-arginine deiminase type-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein-arginine deiminase type-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042742 name: level of protein-arginine deiminase type-4 in blood serum def: "The amount of a protein-arginine deiminase type-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein-arginine deiminase type-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042743 name: level of glycodelin in blood serum def: "The amount of a glycodelin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glycodelin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042744 name: level of PCNA-associated factor in blood serum def: "The amount of a PCNA-associated factor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PCNA-associated factor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042745 name: level of platelet-activating factor acetylhydrolase IB subunit alpha1 in blood serum def: "The amount of a platelet-activating factor acetylhydrolase IB subunit alpha1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum platelet-activating factor acetylhydrolase IB subunit alpha1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042746 name: level of platelet-activating factor acetylhydrolase 2, cytoplasmic in blood serum def: "The amount of a platelet-activating factor acetylhydrolase 2, cytoplasmic when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum platelet-activating factor acetylhydrolase 2, cytoplasmic amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042747 name: level of P antigen family member 4 in blood serum def: "The amount of a P antigen family member 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum P antigen family member 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042748 name: level of bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase in blood serum def: "The amount of a bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042749 name: level of polyadenylate-binding protein-interacting protein 1 in blood serum def: "The amount of a polyadenylate-binding protein-interacting protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum polyadenylate-binding protein-interacting protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042750 name: level of serine/threonine-protein kinase PAK 4 in blood serum def: "The amount of a serine/threonine-protein kinase PAK 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine/threonine-protein kinase PAK 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042751 name: level of serine/threonine-protein kinase PAK 5 in blood serum def: "The amount of a serine/threonine-protein kinase PAK 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine/threonine-protein kinase PAK 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042752 name: level of paralemmin in blood serum def: "The amount of a paralemmin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum paralemmin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042753 name: level of palmdelphin in blood serum def: "The amount of a palmdelphin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum palmdelphin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042754 name: level of peptidyl-glycine alpha-amidating monooxygenase in blood serum def: "The amount of a peptidyl-glycine alpha-amidating monooxygenase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum peptidyl-glycine alpha-amidating monooxygenase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042755 name: level of pantothenate kinase 1 in blood serum def: "The amount of a pantothenate kinase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pantothenate kinase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042756 name: level of pantothenate kinase 3 in blood serum def: "The amount of a pantothenate kinase 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pantothenate kinase 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042757 name: level of acid phosphatase type 7 in blood serum def: "The amount of a acid phosphatase type 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum acid phosphatase type 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042758 name: level of papilin in blood serum def: "The amount of a papilin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum papilin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042759 name: level of poly(A) polymerase gamma in blood serum def: "The amount of a poly(A) polymerase gamma when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum poly(A) polymerase gamma amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042760 name: level of pappalysin-2 in blood serum def: "The amount of a pappalysin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pappalysin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042761 name: level of bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1 in blood serum def: "The amount of a bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042762 name: level of E3 ubiquitin-protein ligase parkin in blood serum def: "The amount of a E3 ubiquitin-protein ligase parkin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 ubiquitin-protein ligase parkin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042763 name: level of protein mono-ADP-ribosyltransferase PARP11 in blood serum def: "The amount of a protein mono-ADP-ribosyltransferase PARP11 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein mono-ADP-ribosyltransferase PARP11 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042764 name: level of protein mono-ADP-ribosyltransferase PARP16 in blood serum def: "The amount of a protein mono-ADP-ribosyltransferase PARP16 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein mono-ADP-ribosyltransferase PARP16 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042765 name: level of alpha-parvin in blood serum def: "The amount of a alpha-parvin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-parvin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042766 name: level of prostate and testis expressed protein 1 in blood serum def: "The amount of a prostate and testis expressed protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum prostate and testis expressed protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042767 name: level of prostate and testis expressed protein 4 in blood serum def: "The amount of a prostate and testis expressed protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum prostate and testis expressed protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042768 name: level of PRKC apoptosis WT1 regulator protein in blood serum def: "The amount of a PRKC apoptosis WT1 regulator protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PRKC apoptosis WT1 regulator protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042769 name: level of paired box protein Pax-3 in blood serum def: "The amount of a paired box protein Pax-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum paired box protein Pax-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042770 name: level of paired box protein Pax-4 in blood serum def: "The amount of a paired box protein Pax-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum paired box protein Pax-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042771 name: level of paired box protein Pax-8 in blood serum def: "The amount of a paired box protein Pax-8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum paired box protein Pax-8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042772 name: level of PAX-interacting protein 1 in blood serum def: "The amount of a PAX-interacting protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PAX-interacting protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042773 name: level of lymphokine-activated killer T-cell-originated protein kinase in blood serum def: "The amount of a lymphokine-activated killer T-cell-originated protein kinase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lymphokine-activated killer T-cell-originated protein kinase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042774 name: level of protein polybromo-1 in blood serum def: "The amount of a protein polybromo-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein polybromo-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042775 name: level of pyruvate carboxylase, mitochondrial in blood serum def: "The amount of a pyruvate carboxylase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pyruvate carboxylase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042776 name: level of histone acetyltransferase KAT2B in blood serum def: "The amount of a histone acetyltransferase KAT2B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum histone acetyltransferase KAT2B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042777 name: level of pterin-4-alpha-carbinolamine dehydratase in blood serum def: "The amount of a pterin-4-alpha-carbinolamine dehydratase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pterin-4-alpha-carbinolamine dehydratase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042778 name: level of pterin-4-alpha-carbinolamine dehydratase 2 in blood serum def: "The amount of a pterin-4-alpha-carbinolamine dehydratase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pterin-4-alpha-carbinolamine dehydratase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042779 name: level of poly(rC)-binding protein 1 in blood serum def: "The amount of a poly(rC)-binding protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum poly(rC)-binding protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042780 name: level of protocadherin-12 in blood serum def: "The amount of a protocadherin-12 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protocadherin-12 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042781 name: level of protocadherin-17 in blood serum def: "The amount of a protocadherin-17 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protocadherin-17 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042782 name: level of cadherin-related family member 1 in blood serum def: "The amount of a cadherin-related family member 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cadherin-related family member 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042783 name: level of protocadherin-8 in blood serum def: "The amount of a protocadherin-8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protocadherin-8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042784 name: level of protocadherin-9 in blood serum def: "The amount of a protocadherin-9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protocadherin-9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042785 name: level of protocadherin alpha-4 in blood serum def: "The amount of a protocadherin alpha-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protocadherin alpha-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042786 name: level of protocadherin alpha-7 in blood serum def: "The amount of a protocadherin alpha-7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protocadherin alpha-7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042787 name: level of protocadherin alpha-C1 in blood serum def: "The amount of a protocadherin alpha-C1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protocadherin alpha-C1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042788 name: level of protocadherin alpha-C2 in blood serum def: "The amount of a protocadherin alpha-C2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protocadherin alpha-C2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042789 name: level of protocadherin beta-1 in blood serum def: "The amount of a protocadherin beta-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protocadherin beta-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042790 name: level of protocadherin beta-10 in blood serum def: "The amount of a protocadherin beta-10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protocadherin beta-10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042791 name: level of protocadherin beta-2 in blood serum def: "The amount of a protocadherin beta-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protocadherin beta-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042792 name: level of protocadherin gamma-A1 in blood serum def: "The amount of a protocadherin gamma-A1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protocadherin gamma-A1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042793 name: level of protocadherin gamma-A10 in blood serum def: "The amount of a protocadherin gamma-A10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protocadherin gamma-A10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042794 name: level of protocadherin gamma-A12 in blood serum def: "The amount of a protocadherin gamma-A12 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protocadherin gamma-A12 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042795 name: level of protocadherin gamma-A2 in blood serum def: "The amount of a protocadherin gamma-A2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protocadherin gamma-A2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042796 name: level of protocadherin gamma-B1 in blood serum def: "The amount of a protocadherin gamma-B1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protocadherin gamma-B1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042797 name: level of protocadherin gamma-C3 in blood serum def: "The amount of a protocadherin gamma-C3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protocadherin gamma-C3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042798 name: level of protocadherin gamma-C5 in blood serum def: "The amount of a protocadherin gamma-C5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protocadherin gamma-C5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042799 name: level of phosphoenolpyruvate carboxykinase, cytosolic [GTP] in blood serum def: "The amount of a phosphoenolpyruvate carboxykinase, cytosolic [GTP] when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphoenolpyruvate carboxykinase, cytosolic [GTP] amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042800 name: level of phosphoenolpyruvate carboxykinase [GTP], mitochondrial in blood serum def: "The amount of a phosphoenolpyruvate carboxykinase [GTP], mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphoenolpyruvate carboxykinase [GTP], mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042801 name: level of PEST proteolytic signal-containing nuclear protein in blood serum def: "The amount of a PEST proteolytic signal-containing nuclear protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PEST proteolytic signal-containing nuclear protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042802 name: level of procollagen C-endopeptidase enhancer 1 in blood serum def: "The amount of a procollagen C-endopeptidase enhancer 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum procollagen C-endopeptidase enhancer 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042803 name: level of procollagen C-endopeptidase enhancer 2 in blood serum def: "The amount of a procollagen C-endopeptidase enhancer 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum procollagen C-endopeptidase enhancer 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042804 name: level of Purkinje cell protein 4-like protein 1 in blood serum def: "The amount of a Purkinje cell protein 4-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Purkinje cell protein 4-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042805 name: level of neuroendocrine convertase 1 in blood serum def: "The amount of a neuroendocrine convertase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neuroendocrine convertase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042806 name: level of ProSAAS in blood serum def: "The amount of a ProSAAS when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ProSAAS amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042807 name: level of neuroendocrine convertase 2 in blood serum def: "The amount of a neuroendocrine convertase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neuroendocrine convertase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042808 name: level of cyclin-dependent kinase 16 in blood serum def: "The amount of a cyclin-dependent kinase 16 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cyclin-dependent kinase 16 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042809 name: level of phosphatidylcholine transfer protein in blood serum def: "The amount of a phosphatidylcholine transfer protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphatidylcholine transfer protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042810 name: level of prenylcysteine oxidase-like in blood serum def: "The amount of a prenylcysteine oxidase-like when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum prenylcysteine oxidase-like amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042811 name: level of 28 kDa heat- and acid-stable phosphoprotein in blood serum def: "The amount of a 28 kDa heat- and acid-stable phosphoprotein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 28 kDa heat- and acid-stable phosphoprotein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042812 name: level of programmed cell death protein 4 in blood serum def: "The amount of a programmed cell death protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum programmed cell death protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042813 name: level of programmed cell death protein 5 in blood serum def: "The amount of a programmed cell death protein 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum programmed cell death protein 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042814 name: level of programmed cell death protein 6 in blood serum def: "The amount of a programmed cell death protein 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum programmed cell death protein 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042815 name: level of programmed cell death 6-interacting protein in blood serum def: "The amount of a programmed cell death 6-interacting protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum programmed cell death 6-interacting protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042816 name: level of phosducin-like protein in blood serum def: "The amount of a phosducin-like protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosducin-like protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042817 name: level of phosducin-like protein 2 in blood serum def: "The amount of a phosducin-like protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosducin-like protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042818 name: level of phosducin-like protein 3 in blood serum def: "The amount of a phosducin-like protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosducin-like protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042819 name: level of dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1B in blood serum def: "The amount of a dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042820 name: level of cAMP-specific 3',5'-cyclic phosphodiesterase 4A in blood serum def: "The amount of a cAMP-specific 3',5'-cyclic phosphodiesterase 4A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cAMP-specific 3',5'-cyclic phosphodiesterase 4A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042821 name: level of cAMP-specific 3',5'-cyclic phosphodiesterase 4C in blood serum def: "The amount of a cAMP-specific 3',5'-cyclic phosphodiesterase 4C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cAMP-specific 3',5'-cyclic phosphodiesterase 4C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042822 name: level of retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta in blood serum def: "The amount of a retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042823 name: level of retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma in blood serum def: "The amount of a retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042824 name: level of platelet-derived growth factor subunit A in blood serum def: "The amount of a platelet-derived growth factor subunit A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum platelet-derived growth factor subunit A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042825 name: level of platelet-derived growth factor receptor-like protein in blood serum def: "The amount of a platelet-derived growth factor receptor-like protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum platelet-derived growth factor receptor-like protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042826 name: level of pyruvate dehydrogenase E1 component subunit beta, mitochondrial in blood serum def: "The amount of a pyruvate dehydrogenase E1 component subunit beta, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pyruvate dehydrogenase E1 component subunit beta, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042827 name: level of pyruvate dehydrogenase protein X component, mitochondrial in blood serum def: "The amount of a pyruvate dehydrogenase protein X component, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pyruvate dehydrogenase protein X component, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042828 name: level of protein disulfide-isomerase A4 in blood serum def: "The amount of a protein disulfide-isomerase A4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein disulfide-isomerase A4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042829 name: level of protein disulfide-isomerase A5 in blood serum def: "The amount of a protein disulfide-isomerase A5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein disulfide-isomerase A5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042830 name: level of protein disulfide-isomerase A6 in blood serum def: "The amount of a protein disulfide-isomerase A6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein disulfide-isomerase A6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042831 name: level of protein disulfide-isomerase-like protein of the testis in blood serum def: "The amount of a protein disulfide-isomerase-like protein of the testis when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein disulfide-isomerase-like protein of the testis amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042832 name: level of [pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 2, mitochondrial in blood serum def: "The amount of a [pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 2, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum [pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 2, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042833 name: level of PDZ and LIM domain protein 1 in blood serum def: "The amount of a PDZ and LIM domain protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PDZ and LIM domain protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042834 name: level of PDZ and LIM domain protein 3 in blood serum def: "The amount of a PDZ and LIM domain protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PDZ and LIM domain protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042835 name: level of PDZ and LIM domain protein 5 in blood serum def: "The amount of a PDZ and LIM domain protein 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PDZ and LIM domain protein 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042836 name: level of [pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial in blood serum def: "The amount of a [pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum [pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042837 name: level of p53 and DNA damage-regulated protein 1 in blood serum def: "The amount of a p53 and DNA damage-regulated protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum p53 and DNA damage-regulated protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042838 name: level of proenkephalin-B in blood serum def: "The amount of a proenkephalin-B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum proenkephalin-B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042839 name: level of Na(+)/H(+) exchange regulatory cofactor NHE-RF3 in blood serum def: "The amount of a Na(+)/H(+) exchange regulatory cofactor NHE-RF3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Na(+)/H(+) exchange regulatory cofactor NHE-RF3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042840 name: level of astrocytic phosphoprotein PEA-15 in blood serum def: "The amount of a astrocytic phosphoprotein PEA-15 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum astrocytic phosphoprotein PEA-15 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042841 name: level of enoyl-CoA Delta isomerase 2 in blood serum def: "The amount of a enoyl-CoA Delta isomerase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum enoyl-CoA Delta isomerase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042842 name: level of peroxisomal trans-2-enoyl-CoA reductase in blood serum def: "The amount of a peroxisomal trans-2-enoyl-CoA reductase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum peroxisomal trans-2-enoyl-CoA reductase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042843 name: level of peflin in blood serum def: "The amount of a peflin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum peflin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042844 name: level of E3 ubiquitin-protein ligase pellino homolog 2 in blood serum def: "The amount of a E3 ubiquitin-protein ligase pellino homolog 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 ubiquitin-protein ligase pellino homolog 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042845 name: level of protein pelota in blood serum def: "The amount of a protein pelota when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein pelota amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042846 name: level of proenkephalin-A in blood serum def: "The amount of a proenkephalin-A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum proenkephalin-A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042847 name: level of platelet factor 4 variant in blood serum def: "The amount of a platelet factor 4 variant when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum platelet factor 4 variant amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042848 name: level of prefoldin subunit 1 in blood serum def: "The amount of a prefoldin subunit 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum prefoldin subunit 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042849 name: level of prefoldin subunit 2 in blood serum def: "The amount of a prefoldin subunit 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum prefoldin subunit 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042850 name: level of prefoldin subunit 4 in blood serum def: "The amount of a prefoldin subunit 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum prefoldin subunit 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042851 name: level of 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 in blood serum def: "The amount of a 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042852 name: level of 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 in blood serum def: "The amount of a 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042853 name: level of 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4 in blood serum def: "The amount of a 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042854 name: level of ATP-dependent 6-phosphofructokinase, muscle type in blood serum def: "The amount of a ATP-dependent 6-phosphofructokinase, muscle type when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ATP-dependent 6-phosphofructokinase, muscle type amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042855 name: level of profilin-1 in blood serum def: "The amount of a profilin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum profilin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042856 name: level of profilin-2 in blood serum def: "The amount of a profilin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum profilin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042857 name: level of profilin-4 in blood serum def: "The amount of a profilin-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum profilin-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042858 name: level of cyclin-dependent kinase 15 in blood serum def: "The amount of a cyclin-dependent kinase 15 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cyclin-dependent kinase 15 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042859 name: level of carboxypeptidase Q in blood serum def: "The amount of a carboxypeptidase Q when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum carboxypeptidase Q amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042860 name: level of phosphoglycerate kinase 2 in blood serum def: "The amount of a phosphoglycerate kinase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphoglycerate kinase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042861 name: level of 6-phosphogluconolactonase in blood serum def: "The amount of a 6-phosphogluconolactonase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 6-phosphogluconolactonase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042862 name: level of N-acetylmuramoyl-L-alanine amidase in blood serum def: "The amount of a N-acetylmuramoyl-L-alanine amidase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum N-acetylmuramoyl-L-alanine amidase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042863 name: level of peptidoglycan recognition protein 3 in blood serum def: "The amount of a peptidoglycan recognition protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum peptidoglycan recognition protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042864 name: level of peptidoglycan recognition protein 4 in blood serum def: "The amount of a peptidoglycan recognition protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum peptidoglycan recognition protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042865 name: level of phosphopentomutase in blood serum def: "The amount of a phosphopentomutase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphopentomutase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042866 name: level of phosphoglucomutase-like protein 5 in blood serum def: "The amount of a phosphoglucomutase-like protein 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphoglucomutase-like protein 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042867 name: level of pyroglutamyl-peptidase 1 in blood serum def: "The amount of a pyroglutamyl-peptidase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pyroglutamyl-peptidase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042868 name: level of progesterone receptor in blood serum def: "The amount of a progesterone receptor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum progesterone receptor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042869 name: level of membrane-associated progesterone receptor component 1 in blood serum def: "The amount of a membrane-associated progesterone receptor component 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum membrane-associated progesterone receptor component 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042870 name: level of membrane-associated progesterone receptor component 2 in blood serum def: "The amount of a membrane-associated progesterone receptor component 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum membrane-associated progesterone receptor component 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042871 name: level of prohibitin-2 in blood serum def: "The amount of a prohibitin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum prohibitin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042872 name: level of PHD finger protein 11 in blood serum def: "The amount of a PHD finger protein 11 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PHD finger protein 11 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042873 name: level of PHD finger protein 3 in blood serum def: "The amount of a PHD finger protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PHD finger protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042874 name: level of PHD finger protein 6 in blood serum def: "The amount of a PHD finger protein 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PHD finger protein 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042875 name: level of D-3-phosphoglycerate dehydrogenase in blood serum def: "The amount of a D-3-phosphoglycerate dehydrogenase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum D-3-phosphoglycerate dehydrogenase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042876 name: level of phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform in blood serum def: "The amount of a phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042877 name: level of phosphoethanolamine/phosphocholine phosphatase in blood serum def: "The amount of a phosphoethanolamine/phosphocholine phosphatase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphoethanolamine/phosphocholine phosphatase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042878 name: level of pyridoxal phosphate phosphatase PHOSPHO2 in blood serum def: "The amount of a pyridoxal phosphate phosphatase PHOSPHO2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pyridoxal phosphate phosphatase PHOSPHO2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042879 name: level of 14 kDa phosphohistidine phosphatase in blood serum def: "The amount of a 14 kDa phosphohistidine phosphatase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 14 kDa phosphohistidine phosphatase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042880 name: level of phytanoyl-CoA dioxygenase, peroxisomal in blood serum def: "The amount of a phytanoyl-CoA dioxygenase, peroxisomal when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phytanoyl-CoA dioxygenase, peroxisomal amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042881 name: level of phytanoyl-CoA dioxygenase domain-containing protein 1 in blood serum def: "The amount of a phytanoyl-CoA dioxygenase domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phytanoyl-CoA dioxygenase domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042882 name: level of phytanoyl-CoA hydroxylase-interacting protein in blood serum def: "The amount of a phytanoyl-CoA hydroxylase-interacting protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phytanoyl-CoA hydroxylase-interacting protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042883 name: level of phytanoyl-CoA hydroxylase-interacting protein-like in blood serum def: "The amount of a phytanoyl-CoA hydroxylase-interacting protein-like when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phytanoyl-CoA hydroxylase-interacting protein-like amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042884 name: level of peptidase inhibitor 15 in blood serum def: "The amount of a peptidase inhibitor 15 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum peptidase inhibitor 15 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042885 name: level of PRKCA-binding protein in blood serum def: "The amount of a PRKCA-binding protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PRKCA-binding protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042886 name: level of PTB-containing, cubilin and LRP1-interacting protein in blood serum def: "The amount of a PTB-containing, cubilin and LRP1-interacting protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PTB-containing, cubilin and LRP1-interacting protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042887 name: level of phosphoinositide 3-kinase adapter protein 1 in blood serum def: "The amount of a phosphoinositide 3-kinase adapter protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphoinositide 3-kinase adapter protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042888 name: level of phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha in blood serum def: "The amount of a phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042889 name: level of phosphatidylinositol 3-kinase catalytic subunit type 3 in blood serum def: "The amount of a phosphatidylinositol 3-kinase catalytic subunit type 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphatidylinositol 3-kinase catalytic subunit type 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042890 name: level of phosphoinositide-3-kinase-interacting protein 1 in blood serum def: "The amount of a phosphoinositide-3-kinase-interacting protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphoinositide-3-kinase-interacting protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042891 name: level of phosphatidylinositol 3-kinase regulatory subunit alpha in blood serum def: "The amount of a phosphatidylinositol 3-kinase regulatory subunit alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphatidylinositol 3-kinase regulatory subunit alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042892 name: level of paired immunoglobulin-like type 2 receptor alpha in blood serum def: "The amount of a paired immunoglobulin-like type 2 receptor alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum paired immunoglobulin-like type 2 receptor alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042893 name: level of serine/threonine-protein kinase Pim-2 in blood serum def: "The amount of a serine/threonine-protein kinase Pim-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine/threonine-protein kinase Pim-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042894 name: level of peptidyl-prolyl cis-trans isomerase NIMA-interacting 1 in blood serum def: "The amount of a peptidyl-prolyl cis-trans isomerase NIMA-interacting 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum peptidyl-prolyl cis-trans isomerase NIMA-interacting 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042895 name: level of peptidyl-prolyl cis-trans isomerase NIMA-interacting 4 in blood serum def: "The amount of a peptidyl-prolyl cis-trans isomerase NIMA-interacting 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum peptidyl-prolyl cis-trans isomerase NIMA-interacting 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042896 name: level of prolactin-inducible protein in blood serum def: "The amount of a prolactin-inducible protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum prolactin-inducible protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042897 name: level of phosphatidylinositol 5-phosphate 4-kinase type-2 alpha in blood serum def: "The amount of a phosphatidylinositol 5-phosphate 4-kinase type-2 alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphatidylinositol 5-phosphate 4-kinase type-2 alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042898 name: level of phosphatidylinositol 5-phosphate 4-kinase type-2 beta in blood serum def: "The amount of a phosphatidylinositol 5-phosphate 4-kinase type-2 beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphatidylinositol 5-phosphate 4-kinase type-2 beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042899 name: level of peroxisomal sarcosine oxidase in blood serum def: "The amount of a peroxisomal sarcosine oxidase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum peroxisomal sarcosine oxidase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042900 name: level of pirin in blood serum def: "The amount of a pirin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pirin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042901 name: level of phosphatidylinositol transfer protein alpha isoform in blood serum def: "The amount of a phosphatidylinositol transfer protein alpha isoform when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphatidylinositol transfer protein alpha isoform amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042902 name: level of phosphatidylinositol transfer protein beta isoform in blood serum def: "The amount of a phosphatidylinositol transfer protein beta isoform when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphatidylinositol transfer protein beta isoform amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042903 name: level of membrane-associated phosphatidylinositol transfer protein 3 in blood serum def: "The amount of a membrane-associated phosphatidylinositol transfer protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum membrane-associated phosphatidylinositol transfer protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042904 name: level of pituitary homeobox 3 in blood serum def: "The amount of a pituitary homeobox 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pituitary homeobox 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042905 name: level of piwi-like protein 1 in blood serum def: "The amount of a piwi-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum piwi-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042906 name: level of pyruvate kinase PKLR in blood serum def: "The amount of a pyruvate kinase PKLR when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pyruvate kinase PKLR amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042907 name: level of serine/threonine-protein kinase N1 in blood serum def: "The amount of a serine/threonine-protein kinase N1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine/threonine-protein kinase N1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042908 name: level of serine/threonine-protein kinase N2 in blood serum def: "The amount of a serine/threonine-protein kinase N2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine/threonine-protein kinase N2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042909 name: level of plakophilin-2 in blood serum def: "The amount of a plakophilin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum plakophilin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042910 name: level of phospholipase A1 member A in blood serum def: "The amount of a phospholipase A1 member A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phospholipase A1 member A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042911 name: level of group XIIA secretory phospholipase A2 in blood serum def: "The amount of a group XIIA secretory phospholipase A2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum group XIIA secretory phospholipase A2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042912 name: level of group XIIB secretory phospholipase A2-like protein in blood serum def: "The amount of a group XIIB secretory phospholipase A2-like protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum group XIIB secretory phospholipase A2-like protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042913 name: level of phospholipase A2 in blood serum def: "The amount of a phospholipase A2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phospholipase A2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042914 name: level of group IID secretory phospholipase A2 in blood serum def: "The amount of a group IID secretory phospholipase A2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum group IID secretory phospholipase A2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042915 name: level of cytosolic phospholipase A2 in blood serum def: "The amount of a cytosolic phospholipase A2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cytosolic phospholipase A2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042916 name: level of secretory phospholipase A2 receptor in blood serum def: "The amount of a secretory phospholipase A2 receptor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum secretory phospholipase A2 receptor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042917 name: level of oocyte-secreted protein 2 in blood serum def: "The amount of a oocyte-secreted protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum oocyte-secreted protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042918 name: level of 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 in blood serum def: "The amount of a 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042919 name: level of 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 in blood serum def: "The amount of a 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042920 name: level of 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3 in blood serum def: "The amount of a 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042921 name: level of 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 in blood serum def: "The amount of a 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042922 name: level of 5'-3' exonuclease PLD3 in blood serum def: "The amount of a 5'-3' exonuclease PLD3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 5'-3' exonuclease PLD3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042923 name: level of inactive phospholipase D5 in blood serum def: "The amount of a inactive phospholipase D5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum inactive phospholipase D5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042924 name: level of biogenesis of lysosome-related organelles complex 1 subunit 6 in blood serum def: "The amount of a biogenesis of lysosome-related organelles complex 1 subunit 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum biogenesis of lysosome-related organelles complex 1 subunit 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042925 name: level of pleckstrin in blood serum def: "The amount of a pleckstrin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pleckstrin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042926 name: level of pleckstrin homology domain-containing family A member 1 in blood serum def: "The amount of a pleckstrin homology domain-containing family A member 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pleckstrin homology domain-containing family A member 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042927 name: level of pleckstrin homology domain-containing family A member 3 in blood serum def: "The amount of a pleckstrin homology domain-containing family A member 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pleckstrin homology domain-containing family A member 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042928 name: level of pleckstrin homology domain-containing family A member 4 in blood serum def: "The amount of a pleckstrin homology domain-containing family A member 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pleckstrin homology domain-containing family A member 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042929 name: level of procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 in blood serum def: "The amount of a procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042930 name: level of multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 in blood serum def: "The amount of a multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042931 name: level of plastin-1 in blood serum def: "The amount of a plastin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum plastin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042932 name: level of plastin-3 in blood serum def: "The amount of a plastin-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum plastin-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042933 name: level of phospholipid scramblase 3 in blood serum def: "The amount of a phospholipid scramblase 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phospholipid scramblase 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042934 name: level of phospholipid transfer protein in blood serum def: "The amount of a phospholipid transfer protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phospholipid transfer protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042935 name: level of BPI fold-containing family A member 1 in blood serum def: "The amount of a BPI fold-containing family A member 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum BPI fold-containing family A member 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042936 name: level of plasmalemma vesicle-associated protein in blood serum def: "The amount of a plasmalemma vesicle-associated protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum plasmalemma vesicle-associated protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042937 name: level of plexin-A1 in blood serum def: "The amount of a plexin-A1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum plexin-A1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042938 name: level of plexin-A4 in blood serum def: "The amount of a plexin-A4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum plexin-A4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042939 name: level of plexin-B3 in blood serum def: "The amount of a plexin-B3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum plexin-B3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042940 name: level of plexin-D1 in blood serum def: "The amount of a plexin-D1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum plexin-D1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042941 name: level of protein TMEPAI in blood serum def: "The amount of a protein TMEPAI when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein TMEPAI amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042942 name: level of polyamine-modulated factor 1 in blood serum def: "The amount of a polyamine-modulated factor 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum polyamine-modulated factor 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042943 name: level of phosphomannomutase 2 in blood serum def: "The amount of a phosphomannomutase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphomannomutase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042944 name: level of mitochondrial-processing peptidase subunit alpha in blood serum def: "The amount of a mitochondrial-processing peptidase subunit alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mitochondrial-processing peptidase subunit alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042945 name: level of mismatch repair endonuclease PMS2 in blood serum def: "The amount of a mismatch repair endonuclease PMS2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mismatch repair endonuclease PMS2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042946 name: level of phosphomevalonate kinase in blood serum def: "The amount of a phosphomevalonate kinase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphomevalonate kinase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042947 name: level of bifunctional polynucleotide phosphatase/kinase in blood serum def: "The amount of a bifunctional polynucleotide phosphatase/kinase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum bifunctional polynucleotide phosphatase/kinase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042948 name: level of pancreatic triacylglycerol lipase in blood serum def: "The amount of a pancreatic triacylglycerol lipase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pancreatic triacylglycerol lipase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042949 name: level of pancreatic lipase-related protein 1 in blood serum def: "The amount of a pancreatic lipase-related protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pancreatic lipase-related protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042950 name: level of pancreatic lipase-related protein 2 in blood serum def: "The amount of a pancreatic lipase-related protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pancreatic lipase-related protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042951 name: level of paraneoplastic antigen Ma2 in blood serum def: "The amount of a paraneoplastic antigen Ma2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum paraneoplastic antigen Ma2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042952 name: level of phenylethanolamine N-methyltransferase in blood serum def: "The amount of a phenylethanolamine N-methyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phenylethanolamine N-methyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042953 name: level of nociceptin in blood serum def: "The amount of a nociceptin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nociceptin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042954 name: level of patatin-like phospholipase domain-containing protein 2 in blood serum def: "The amount of a patatin-like phospholipase domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum patatin-like phospholipase domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042955 name: level of pyridoxine-5'-phosphate oxidase in blood serum def: "The amount of a pyridoxine-5'-phosphate oxidase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pyridoxine-5'-phosphate oxidase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042956 name: level of polyribonucleotide nucleotidyltransferase 1, mitochondrial in blood serum def: "The amount of a polyribonucleotide nucleotidyltransferase 1, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum polyribonucleotide nucleotidyltransferase 1, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042957 name: level of podocalyxin-like protein 2 in blood serum def: "The amount of a podocalyxin-like protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum podocalyxin-like protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042958 name: level of GDP-fucose protein O-fucosyltransferase 1 in blood serum def: "The amount of a GDP-fucose protein O-fucosyltransferase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum GDP-fucose protein O-fucosyltransferase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042959 name: level of DNA polymerase beta in blood serum def: "The amount of a DNA polymerase beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA polymerase beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042960 name: level of DNA polymerase delta subunit 4 in blood serum def: "The amount of a DNA polymerase delta subunit 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA polymerase delta subunit 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042961 name: level of DNA polymerase epsilon subunit 2 in blood serum def: "The amount of a DNA polymerase epsilon subunit 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA polymerase epsilon subunit 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042962 name: level of DNA polymerase epsilon subunit 3 in blood serum def: "The amount of a DNA polymerase epsilon subunit 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA polymerase epsilon subunit 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042963 name: level of DNA polymerase eta in blood serum def: "The amount of a DNA polymerase eta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA polymerase eta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042964 name: level of DNA polymerase iota in blood serum def: "The amount of a DNA polymerase iota when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA polymerase iota amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042965 name: level of DNA-directed DNA/RNA polymerase mu in blood serum def: "The amount of a DNA-directed DNA/RNA polymerase mu when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA-directed DNA/RNA polymerase mu amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042966 name: level of DNA-directed RNA polymerases I and III subunit RPAC1 in blood serum def: "The amount of a DNA-directed RNA polymerases I and III subunit RPAC1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA-directed RNA polymerases I and III subunit RPAC1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042967 name: level of DNA-directed RNA polymerase II subunit RPB3 in blood serum def: "The amount of a DNA-directed RNA polymerase II subunit RPB3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA-directed RNA polymerase II subunit RPB3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042968 name: level of DNA-directed RNA polymerases I, II, and III subunit RPABC1 in blood serum def: "The amount of a DNA-directed RNA polymerases I, II, and III subunit RPABC1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA-directed RNA polymerases I, II, and III subunit RPABC1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042969 name: level of DNA-directed RNA polymerases I, II, and III subunit RPABC2 in blood serum def: "The amount of a DNA-directed RNA polymerases I, II, and III subunit RPABC2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA-directed RNA polymerases I, II, and III subunit RPABC2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042970 name: level of DNA-directed RNA polymerase II subunit RPB9 in blood serum def: "The amount of a DNA-directed RNA polymerase II subunit RPB9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA-directed RNA polymerase II subunit RPB9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042971 name: level of DNA-directed RNA polymerases I, II, and III subunit RPABC4 in blood serum def: "The amount of a DNA-directed RNA polymerases I, II, and III subunit RPABC4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA-directed RNA polymerases I, II, and III subunit RPABC4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042972 name: level of DNA-directed RNA polymerase III subunit RPC6 in blood serum def: "The amount of a DNA-directed RNA polymerase III subunit RPC6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA-directed RNA polymerase III subunit RPC6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042973 name: level of protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 in blood serum def: "The amount of a protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042974 name: level of serum paraoxonase/arylesterase 2 in blood serum def: "The amount of a serum paraoxonase/arylesterase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serum paraoxonase/arylesterase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042975 name: level of POU domain class 2-associating factor 1 in blood serum def: "The amount of a POU domain class 2-associating factor 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum POU domain class 2-associating factor 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042976 name: level of POU domain, class 2, transcription factor 1 in blood serum def: "The amount of a POU domain, class 2, transcription factor 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum POU domain, class 2, transcription factor 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042977 name: level of inorganic pyrophosphatase 2, mitochondrial in blood serum def: "The amount of a inorganic pyrophosphatase 2, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum inorganic pyrophosphatase 2, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042978 name: level of peroxisome proliferator-activated receptor alpha in blood serum def: "The amount of a peroxisome proliferator-activated receptor alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum peroxisome proliferator-activated receptor alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042979 name: level of peroxisome proliferator-activated receptor gamma in blood serum def: "The amount of a peroxisome proliferator-activated receptor gamma when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum peroxisome proliferator-activated receptor gamma amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042980 name: level of peroxisome proliferator-activated receptor gamma coactivator 1-alpha in blood serum def: "The amount of a peroxisome proliferator-activated receptor gamma coactivator 1-alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum peroxisome proliferator-activated receptor gamma coactivator 1-alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042981 name: level of platelet basic protein in blood serum def: "The amount of a platelet basic protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum platelet basic protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042982 name: level of phosphopantothenoylcysteine decarboxylase in blood serum def: "The amount of a phosphopantothenoylcysteine decarboxylase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphopantothenoylcysteine decarboxylase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042983 name: level of phosphopantothenate--cysteine ligase in blood serum def: "The amount of a phosphopantothenate--cysteine ligase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphopantothenate--cysteine ligase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042984 name: level of liprin-alpha-1 in blood serum def: "The amount of a liprin-alpha-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum liprin-alpha-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042985 name: level of eukaryotic-type peptidyl-prolyl cis-trans isomerase C in blood serum def: "The amount of a eukaryotic-type peptidyl-prolyl cis-trans isomerase C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum eukaryotic-type peptidyl-prolyl cis-trans isomerase C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042986 name: level of peptidyl-prolyl cis-trans isomerase G in blood serum def: "The amount of a peptidyl-prolyl cis-trans isomerase G when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum peptidyl-prolyl cis-trans isomerase G amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042987 name: level of peptidyl-prolyl cis-trans isomerase H in blood serum def: "The amount of a peptidyl-prolyl cis-trans isomerase H when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum peptidyl-prolyl cis-trans isomerase H amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042988 name: level of peptidyl-prolyl cis-trans isomerase-like 1 in blood serum def: "The amount of a peptidyl-prolyl cis-trans isomerase-like 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum peptidyl-prolyl cis-trans isomerase-like 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042989 name: level of RING-type E3 ubiquitin-protein ligase PPIL2 in blood serum def: "The amount of a RING-type E3 ubiquitin-protein ligase PPIL2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RING-type E3 ubiquitin-protein ligase PPIL2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042990 name: level of peptidyl-prolyl cis-trans isomerase-like 3 in blood serum def: "The amount of a peptidyl-prolyl cis-trans isomerase-like 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum peptidyl-prolyl cis-trans isomerase-like 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042991 name: level of protein phosphatase 1A in blood serum def: "The amount of a protein phosphatase 1A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein phosphatase 1A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042992 name: level of protein phosphatase 1B in blood serum def: "The amount of a protein phosphatase 1B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein phosphatase 1B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042993 name: level of protein phosphatase 1D in blood serum def: "The amount of a protein phosphatase 1D when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein phosphatase 1D amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042994 name: level of protein phosphatase 1F in blood serum def: "The amount of a protein phosphatase 1F when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein phosphatase 1F amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042995 name: level of protein phosphatase 1G in blood serum def: "The amount of a protein phosphatase 1G when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein phosphatase 1G amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042996 name: level of protein phosphatase 1L in blood serum def: "The amount of a protein phosphatase 1L when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein phosphatase 1L amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042997 name: level of protein phosphatase 1M in blood serum def: "The amount of a protein phosphatase 1M when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein phosphatase 1M amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042998 name: level of protein phosphatase methylesterase 1 in blood serum def: "The amount of a protein phosphatase methylesterase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein phosphatase methylesterase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2042999 name: level of serine/threonine-protein phosphatase PP1-gamma catalytic subunit in blood serum def: "The amount of a serine/threonine-protein phosphatase PP1-gamma catalytic subunit when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine/threonine-protein phosphatase PP1-gamma catalytic subunit amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043000 name: level of serine/threonine-protein phosphatase 1 regulatory subunit 10 in blood serum def: "The amount of a serine/threonine-protein phosphatase 1 regulatory subunit 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine/threonine-protein phosphatase 1 regulatory subunit 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043001 name: level of protein phosphatase 1 regulatory subunit 14A in blood serum def: "The amount of a protein phosphatase 1 regulatory subunit 14A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein phosphatase 1 regulatory subunit 14A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043002 name: level of protein phosphatase 1 regulatory subunit 1A in blood serum def: "The amount of a protein phosphatase 1 regulatory subunit 1A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein phosphatase 1 regulatory subunit 1A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043003 name: level of protein phosphatase inhibitor 2 in blood serum def: "The amount of a protein phosphatase inhibitor 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein phosphatase inhibitor 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043004 name: level of protein phosphatase 1 regulatory subunit 3B in blood serum def: "The amount of a protein phosphatase 1 regulatory subunit 3B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein phosphatase 1 regulatory subunit 3B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043005 name: level of nuclear inhibitor of protein phosphatase 1 in blood serum def: "The amount of a nuclear inhibitor of protein phosphatase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nuclear inhibitor of protein phosphatase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043006 name: level of neurabin-2 in blood serum def: "The amount of a neurabin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neurabin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043007 name: level of serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform in blood serum def: "The amount of a serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043008 name: level of serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit alpha in blood serum def: "The amount of a serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043009 name: level of serine/threonine-protein phosphatase 2A regulatory subunit B' in blood serum def: "The amount of a serine/threonine-protein phosphatase 2A regulatory subunit B' when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine/threonine-protein phosphatase 2A regulatory subunit B' amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043010 name: level of serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit alpha isoform in blood serum def: "The amount of a serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit alpha isoform when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit alpha isoform amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043011 name: level of serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform in blood serum def: "The amount of a serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043012 name: level of calcineurin subunit B type 2 in blood serum def: "The amount of a calcineurin subunit B type 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calcineurin subunit B type 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043013 name: level of serine/threonine-protein phosphatase 4 catalytic subunit in blood serum def: "The amount of a serine/threonine-protein phosphatase 4 catalytic subunit when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine/threonine-protein phosphatase 4 catalytic subunit amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043014 name: level of palmitoyl-protein thioesterase 1 in blood serum def: "The amount of a palmitoyl-protein thioesterase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum palmitoyl-protein thioesterase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043015 name: level of polyglutamine-binding protein 1 in blood serum def: "The amount of a polyglutamine-binding protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum polyglutamine-binding protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043016 name: level of melanoma antigen preferentially expressed in tumors in blood serum def: "The amount of a melanoma antigen preferentially expressed in tumors when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum melanoma antigen preferentially expressed in tumors amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043017 name: level of protein regulator of cytokinesis 1 in blood serum def: "The amount of a protein regulator of cytokinesis 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein regulator of cytokinesis 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043018 name: level of lysosomal Pro-X carboxypeptidase in blood serum def: "The amount of a lysosomal Pro-X carboxypeptidase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lysosomal Pro-X carboxypeptidase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043019 name: level of PR domain zinc finger protein 4 in blood serum def: "The amount of a PR domain zinc finger protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PR domain zinc finger protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043020 name: level of thioredoxin-dependent peroxide reductase, mitochondrial in blood serum def: "The amount of a thioredoxin-dependent peroxide reductase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum thioredoxin-dependent peroxide reductase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043021 name: level of peroxiredoxin-4 in blood serum def: "The amount of a peroxiredoxin-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum peroxiredoxin-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043022 name: level of prolyl endopeptidase in blood serum def: "The amount of a prolyl endopeptidase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum prolyl endopeptidase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043023 name: level of bone marrow proteoglycan in blood serum def: "The amount of a bone marrow proteoglycan when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum bone marrow proteoglycan amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043024 name: level of proteoglycan 3 in blood serum def: "The amount of a proteoglycan 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum proteoglycan 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043025 name: level of DNA primase small subunit in blood serum def: "The amount of a DNA primase small subunit when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA primase small subunit amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043026 name: level of cAMP-dependent protein kinase type I-alpha regulatory subunit in blood serum def: "The amount of a cAMP-dependent protein kinase type I-alpha regulatory subunit when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cAMP-dependent protein kinase type I-alpha regulatory subunit amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043027 name: level of cAMP-dependent protein kinase type I-beta regulatory subunit in blood serum def: "The amount of a cAMP-dependent protein kinase type I-beta regulatory subunit when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cAMP-dependent protein kinase type I-beta regulatory subunit amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043028 name: level of cAMP-dependent protein kinase type II-alpha regulatory subunit in blood serum def: "The amount of a cAMP-dependent protein kinase type II-alpha regulatory subunit when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cAMP-dependent protein kinase type II-alpha regulatory subunit amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043029 name: level of cAMP-dependent protein kinase type II-beta regulatory subunit in blood serum def: "The amount of a cAMP-dependent protein kinase type II-beta regulatory subunit when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cAMP-dependent protein kinase type II-beta regulatory subunit amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043030 name: level of glucosidase 2 subunit beta in blood serum def: "The amount of a glucosidase 2 subunit beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glucosidase 2 subunit beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043031 name: level of interferon-inducible double-stranded RNA-dependent protein kinase activator A in blood serum def: "The amount of a interferon-inducible double-stranded RNA-dependent protein kinase activator A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interferon-inducible double-stranded RNA-dependent protein kinase activator A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043032 name: level of prolactin-releasing peptide in blood serum def: "The amount of a prolactin-releasing peptide when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum prolactin-releasing peptide amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043033 name: level of protein arginine N-methyltransferase 3 in blood serum def: "The amount of a protein arginine N-methyltransferase 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein arginine N-methyltransferase 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043034 name: level of prion-like protein doppel in blood serum def: "The amount of a prion-like protein doppel when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum prion-like protein doppel amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043035 name: level of prokineticin-2 in blood serum def: "The amount of a prokineticin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum prokineticin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043036 name: level of opiorphin prepropeptide in blood serum def: "The amount of a opiorphin prepropeptide when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum opiorphin prepropeptide amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043037 name: level of pyridoxal phosphate homeostasis protein PLPBP in blood serum def: "The amount of a pyridoxal phosphate homeostasis protein PLPBP when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pyridoxal phosphate homeostasis protein PLPBP amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043038 name: level of pre-mRNA-processing factor 19 in blood serum def: "The amount of a pre-mRNA-processing factor 19 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pre-mRNA-processing factor 19 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043039 name: level of ribose-phosphate pyrophosphokinase 1 in blood serum def: "The amount of a ribose-phosphate pyrophosphokinase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ribose-phosphate pyrophosphokinase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043040 name: level of ribose-phosphate pyrophosphokinase 2 in blood serum def: "The amount of a ribose-phosphate pyrophosphokinase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ribose-phosphate pyrophosphokinase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043041 name: level of phosphoribosyl pyrophosphate synthase-associated protein 1 in blood serum def: "The amount of a phosphoribosyl pyrophosphate synthase-associated protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphoribosyl pyrophosphate synthase-associated protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043042 name: level of phosphoribosyl pyrophosphate synthase-associated protein 2 in blood serum def: "The amount of a phosphoribosyl pyrophosphate synthase-associated protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphoribosyl pyrophosphate synthase-associated protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043043 name: level of proline-rich protein 15 in blood serum def: "The amount of a proline-rich protein 15 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum proline-rich protein 15 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043044 name: level of protein Largen in blood serum def: "The amount of a protein Largen when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein Largen amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043045 name: level of transmembrane gamma-carboxyglutamic acid protein 4 in blood serum def: "The amount of a transmembrane gamma-carboxyglutamic acid protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transmembrane gamma-carboxyglutamic acid protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043046 name: level of paired mesoderm homeobox protein 1 in blood serum def: "The amount of a paired mesoderm homeobox protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum paired mesoderm homeobox protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043047 name: level of inactive serine protease 35 in blood serum def: "The amount of a inactive serine protease 35 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum inactive serine protease 35 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043048 name: level of prostasin in blood serum def: "The amount of a prostasin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum prostasin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043049 name: level of serine protease 57 in blood serum def: "The amount of a serine protease 57 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine protease 57 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043050 name: level of periaxin in blood serum def: "The amount of a periaxin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum periaxin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043051 name: level of proactivator polypeptide-like 1 in blood serum def: "The amount of a proactivator polypeptide-like 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum proactivator polypeptide-like 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043052 name: level of phosphoserine aminotransferase in blood serum def: "The amount of a phosphoserine aminotransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphoserine aminotransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043053 name: level of PH and SEC7 domain-containing protein 1 in blood serum def: "The amount of a PH and SEC7 domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PH and SEC7 domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043054 name: level of gamma-secretase subunit PEN-2 in blood serum def: "The amount of a gamma-secretase subunit PEN-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum gamma-secretase subunit PEN-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043055 name: level of pregnancy-specific beta-1-glycoprotein 1 in blood serum def: "The amount of a pregnancy-specific beta-1-glycoprotein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pregnancy-specific beta-1-glycoprotein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043056 name: level of pregnancy-specific beta-1-glycoprotein 11 in blood serum def: "The amount of a pregnancy-specific beta-1-glycoprotein 11 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pregnancy-specific beta-1-glycoprotein 11 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043057 name: level of pregnancy-specific beta-1-glycoprotein 2 in blood serum def: "The amount of a pregnancy-specific beta-1-glycoprotein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pregnancy-specific beta-1-glycoprotein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043058 name: level of pregnancy-specific beta-1-glycoprotein 3 in blood serum def: "The amount of a pregnancy-specific beta-1-glycoprotein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pregnancy-specific beta-1-glycoprotein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043059 name: level of pregnancy-specific beta-1-glycoprotein 4 in blood serum def: "The amount of a pregnancy-specific beta-1-glycoprotein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pregnancy-specific beta-1-glycoprotein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043060 name: level of pregnancy-specific beta-1-glycoprotein 5 in blood serum def: "The amount of a pregnancy-specific beta-1-glycoprotein 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pregnancy-specific beta-1-glycoprotein 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043061 name: level of pregnancy-specific beta-1-glycoprotein 6 in blood serum def: "The amount of a pregnancy-specific beta-1-glycoprotein 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pregnancy-specific beta-1-glycoprotein 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043062 name: level of pregnancy-specific beta-1-glycoprotein 8 in blood serum def: "The amount of a pregnancy-specific beta-1-glycoprotein 8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pregnancy-specific beta-1-glycoprotein 8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043063 name: level of proteasome subunit alpha type-3 in blood serum def: "The amount of a proteasome subunit alpha type-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum proteasome subunit alpha type-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043064 name: level of proteasome subunit alpha type-4 in blood serum def: "The amount of a proteasome subunit alpha type-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum proteasome subunit alpha type-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043065 name: level of proteasome subunit alpha type-5 in blood serum def: "The amount of a proteasome subunit alpha type-5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum proteasome subunit alpha type-5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043066 name: level of proteasome subunit alpha type-7 in blood serum def: "The amount of a proteasome subunit alpha type-7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum proteasome subunit alpha type-7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043067 name: level of proteasome subunit beta type-1 in blood serum def: "The amount of a proteasome subunit beta type-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum proteasome subunit beta type-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043068 name: level of proteasome subunit beta type-10 in blood serum def: "The amount of a proteasome subunit beta type-10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum proteasome subunit beta type-10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043069 name: level of proteasome subunit beta type-3 in blood serum def: "The amount of a proteasome subunit beta type-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum proteasome subunit beta type-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043070 name: level of proteasome subunit beta type-5 in blood serum def: "The amount of a proteasome subunit beta type-5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum proteasome subunit beta type-5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043071 name: level of proteasome subunit beta type-6 in blood serum def: "The amount of a proteasome subunit beta type-6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum proteasome subunit beta type-6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043072 name: level of proteasome subunit beta type-7 in blood serum def: "The amount of a proteasome subunit beta type-7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum proteasome subunit beta type-7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043073 name: level of proteasome subunit beta type-9 in blood serum def: "The amount of a proteasome subunit beta type-9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum proteasome subunit beta type-9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043074 name: level of 26S proteasome regulatory subunit 6A in blood serum def: "The amount of a 26S proteasome regulatory subunit 6A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 26S proteasome regulatory subunit 6A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043075 name: level of homologous-pairing protein 2 in blood serum def: "The amount of a homologous-pairing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum homologous-pairing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043076 name: level of 26S proteasome non-ATPase regulatory subunit 10 in blood serum def: "The amount of a 26S proteasome non-ATPase regulatory subunit 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 26S proteasome non-ATPase regulatory subunit 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043077 name: level of 26S proteasome non-ATPase regulatory subunit 5 in blood serum def: "The amount of a 26S proteasome non-ATPase regulatory subunit 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 26S proteasome non-ATPase regulatory subunit 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043078 name: level of 26S proteasome non-ATPase regulatory subunit 9 in blood serum def: "The amount of a 26S proteasome non-ATPase regulatory subunit 9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 26S proteasome non-ATPase regulatory subunit 9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043079 name: level of proteasome activator complex subunit 2 in blood serum def: "The amount of a proteasome activator complex subunit 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum proteasome activator complex subunit 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043080 name: level of proteasome assembly chaperone 2 in blood serum def: "The amount of a proteasome assembly chaperone 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum proteasome assembly chaperone 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043081 name: level of proteasome assembly chaperone 3 in blood serum def: "The amount of a proteasome assembly chaperone 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum proteasome assembly chaperone 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043082 name: level of proteasome assembly chaperone 4 in blood serum def: "The amount of a proteasome assembly chaperone 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum proteasome assembly chaperone 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043083 name: level of paraspeckle component 1 in blood serum def: "The amount of a paraspeckle component 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum paraspeckle component 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043084 name: level of phosphoserine phosphatase in blood serum def: "The amount of a phosphoserine phosphatase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphoserine phosphatase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043085 name: level of proline-serine-threonine phosphatase-interacting protein 1 in blood serum def: "The amount of a proline-serine-threonine phosphatase-interacting protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum proline-serine-threonine phosphatase-interacting protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043086 name: level of patched domain-containing protein 3 in blood serum def: "The amount of a patched domain-containing protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum patched domain-containing protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043087 name: level of phosphotriesterase-related protein in blood serum def: "The amount of a phosphotriesterase-related protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphotriesterase-related protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043088 name: level of prostaglandin-H2 D-isomerase in blood serum def: "The amount of a prostaglandin-H2 D-isomerase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum prostaglandin-H2 D-isomerase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043089 name: level of glutathione-requiring prostaglandin D synthase in blood serum def: "The amount of a glutathione-requiring prostaglandin D synthase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutathione-requiring prostaglandin D synthase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043090 name: level of prostaglandin E synthase 2 in blood serum def: "The amount of a prostaglandin E synthase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum prostaglandin E synthase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043091 name: level of prostaglandin E synthase 3 in blood serum def: "The amount of a prostaglandin E synthase 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum prostaglandin E synthase 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043092 name: level of prostaglandin reductase 1 in blood serum def: "The amount of a prostaglandin reductase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum prostaglandin reductase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043093 name: level of prostaglandin reductase 2 in blood serum def: "The amount of a prostaglandin reductase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum prostaglandin reductase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043094 name: level of parathyroid hormone in blood serum def: "The amount of a parathyroid hormone when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum parathyroid hormone amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043095 name: level of parathyroid hormone/parathyroid hormone-related peptide receptor in blood serum def: "The amount of a parathyroid hormone/parathyroid hormone-related peptide receptor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum parathyroid hormone/parathyroid hormone-related peptide receptor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043096 name: level of inactive tyrosine-protein kinase 7 in blood serum def: "The amount of a inactive tyrosine-protein kinase 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum inactive tyrosine-protein kinase 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043097 name: level of protein tyrosine phosphatase type IVA 1 in blood serum def: "The amount of a protein tyrosine phosphatase type IVA 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein tyrosine phosphatase type IVA 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043098 name: level of protein tyrosine phosphatase type IVA 2 in blood serum def: "The amount of a protein tyrosine phosphatase type IVA 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein tyrosine phosphatase type IVA 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043099 name: level of protein tyrosine phosphatase type IVA 3 in blood serum def: "The amount of a protein tyrosine phosphatase type IVA 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein tyrosine phosphatase type IVA 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043100 name: level of protein-tyrosine phosphatase mitochondrial 1 in blood serum def: "The amount of a protein-tyrosine phosphatase mitochondrial 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein-tyrosine phosphatase mitochondrial 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043101 name: level of tyrosine-protein phosphatase non-receptor type 13 in blood serum def: "The amount of a tyrosine-protein phosphatase non-receptor type 13 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tyrosine-protein phosphatase non-receptor type 13 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043102 name: level of tyrosine-protein phosphatase non-receptor type 4 in blood serum def: "The amount of a tyrosine-protein phosphatase non-receptor type 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tyrosine-protein phosphatase non-receptor type 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043103 name: level of tyrosine-protein phosphatase non-receptor type 7 in blood serum def: "The amount of a tyrosine-protein phosphatase non-receptor type 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tyrosine-protein phosphatase non-receptor type 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043104 name: level of tyrosine-protein phosphatase non-receptor type 9 in blood serum def: "The amount of a tyrosine-protein phosphatase non-receptor type 9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tyrosine-protein phosphatase non-receptor type 9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043105 name: level of receptor-type tyrosine-protein phosphatase delta in blood serum def: "The amount of a receptor-type tyrosine-protein phosphatase delta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum receptor-type tyrosine-protein phosphatase delta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043106 name: level of receptor-type tyrosine-protein phosphatase H in blood serum def: "The amount of a receptor-type tyrosine-protein phosphatase H when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum receptor-type tyrosine-protein phosphatase H amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043107 name: level of receptor-type tyrosine-protein phosphatase-like N in blood serum def: "The amount of a receptor-type tyrosine-protein phosphatase-like N when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum receptor-type tyrosine-protein phosphatase-like N amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043108 name: level of receptor-type tyrosine-protein phosphatase R in blood serum def: "The amount of a receptor-type tyrosine-protein phosphatase R when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum receptor-type tyrosine-protein phosphatase R amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043109 name: level of receptor-type tyrosine-protein phosphatase S in blood serum def: "The amount of a receptor-type tyrosine-protein phosphatase S when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum receptor-type tyrosine-protein phosphatase S amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043110 name: level of receptor-type tyrosine-protein phosphatase U in blood serum def: "The amount of a receptor-type tyrosine-protein phosphatase U when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum receptor-type tyrosine-protein phosphatase U amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043111 name: level of caveolae-associated protein 1 in blood serum def: "The amount of a caveolae-associated protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum caveolae-associated protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043112 name: level of peptidyl-tRNA hydrolase 2, mitochondrial in blood serum def: "The amount of a peptidyl-tRNA hydrolase 2, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum peptidyl-tRNA hydrolase 2, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043113 name: level of 6-pyruvoyl tetrahydrobiopterin synthase in blood serum def: "The amount of a 6-pyruvoyl tetrahydrobiopterin synthase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 6-pyruvoyl tetrahydrobiopterin synthase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043114 name: level of securin in blood serum def: "The amount of a securin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum securin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043115 name: level of poly(U)-binding-splicing factor PUF60 in blood serum def: "The amount of a poly(U)-binding-splicing factor PUF60 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum poly(U)-binding-splicing factor PUF60 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043116 name: level of transcriptional activator protein Pur-alpha in blood serum def: "The amount of a transcriptional activator protein Pur-alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcriptional activator protein Pur-alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043117 name: level of transcriptional activator protein Pur-beta in blood serum def: "The amount of a transcriptional activator protein Pur-beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcriptional activator protein Pur-beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043118 name: level of eukaryotic tRNA pseudouridine synthase A in blood serum def: "The amount of a eukaryotic tRNA pseudouridine synthase A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum eukaryotic tRNA pseudouridine synthase A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043119 name: level of nectin-4 in blood serum def: "The amount of a nectin-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nectin-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043120 name: level of peroxidasin in blood serum def: "The amount of a peroxidasin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum peroxidasin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043121 name: level of probable oxidoreductase PXDNL in blood serum def: "The amount of a probable oxidoreductase PXDNL when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum probable oxidoreductase PXDNL amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043122 name: level of apoptosis-associated speck-like protein containing a CARD in blood serum def: "The amount of a apoptosis-associated speck-like protein containing a CARD when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum apoptosis-associated speck-like protein containing a CARD amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043123 name: level of pyrroline-5-carboxylate reductase 1, mitochondrial in blood serum def: "The amount of a pyrroline-5-carboxylate reductase 1, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pyrroline-5-carboxylate reductase 1, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043124 name: level of pyrroline-5-carboxylate reductase 2 in blood serum def: "The amount of a pyrroline-5-carboxylate reductase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pyrroline-5-carboxylate reductase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043125 name: level of pyrin domain-containing protein 1 in blood serum def: "The amount of a pyrin domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pyrin domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043126 name: level of glycogen phosphorylase, liver form in blood serum def: "The amount of a glycogen phosphorylase, liver form when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glycogen phosphorylase, liver form amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043127 name: level of pregnancy zone protein in blood serum def: "The amount of a pregnancy zone protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pregnancy zone protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043128 name: level of group IIC secretory phospholipase A2 in blood serum def: "The amount of a group IIC secretory phospholipase A2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum group IIC secretory phospholipase A2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043129 name: level of dihydropteridine reductase in blood serum def: "The amount of a dihydropteridine reductase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dihydropteridine reductase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043130 name: level of KH domain-containing RNA-binding protein QKI in blood serum def: "The amount of a KH domain-containing RNA-binding protein QKI when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum KH domain-containing RNA-binding protein QKI amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043131 name: level of glutaminyl-peptide cyclotransferase in blood serum def: "The amount of a glutaminyl-peptide cyclotransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutaminyl-peptide cyclotransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043132 name: level of glutaminyl-peptide cyclotransferase-like protein in blood serum def: "The amount of a glutaminyl-peptide cyclotransferase-like protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutaminyl-peptide cyclotransferase-like protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043133 name: level of nicotinate-nucleotide pyrophosphorylase [carboxylating] in blood serum def: "The amount of a nicotinate-nucleotide pyrophosphorylase [carboxylating] when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nicotinate-nucleotide pyrophosphorylase [carboxylating] amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043134 name: level of orexigenic neuropeptide QRFP in blood serum def: "The amount of a orexigenic neuropeptide QRFP when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum orexigenic neuropeptide QRFP amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043135 name: level of sulfhydryl oxidase 1 in blood serum def: "The amount of a sulfhydryl oxidase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sulfhydryl oxidase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043136 name: level of sulfhydryl oxidase 2 in blood serum def: "The amount of a sulfhydryl oxidase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sulfhydryl oxidase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043137 name: level of queuine tRNA-ribosyltransferase catalytic subunit 1 in blood serum def: "The amount of a queuine tRNA-ribosyltransferase catalytic subunit 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum queuine tRNA-ribosyltransferase catalytic subunit 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043138 name: level of Ras-related protein Rab-11B in blood serum def: "The amount of a Ras-related protein Rab-11B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related protein Rab-11B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043139 name: level of Ras-related protein Rab-13 in blood serum def: "The amount of a Ras-related protein Rab-13 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related protein Rab-13 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043140 name: level of Ras-related protein Rab-14 in blood serum def: "The amount of a Ras-related protein Rab-14 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related protein Rab-14 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043141 name: level of Ras-related protein Rab-17 in blood serum def: "The amount of a Ras-related protein Rab-17 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related protein Rab-17 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043142 name: level of Ras-related protein Rab-1A in blood serum def: "The amount of a Ras-related protein Rab-1A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related protein Rab-1A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043143 name: level of Ras-related protein Rab-1B in blood serum def: "The amount of a Ras-related protein Rab-1B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related protein Rab-1B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043144 name: level of Ras-related protein Rab-21 in blood serum def: "The amount of a Ras-related protein Rab-21 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related protein Rab-21 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043145 name: level of Ras-related protein Rab-22A in blood serum def: "The amount of a Ras-related protein Rab-22A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related protein Rab-22A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043146 name: level of Ras-related protein Rab-23 in blood serum def: "The amount of a Ras-related protein Rab-23 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related protein Rab-23 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043147 name: level of Ras-related protein Rab-24 in blood serum def: "The amount of a Ras-related protein Rab-24 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related protein Rab-24 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043148 name: level of Ras-related protein Rab-26 in blood serum def: "The amount of a Ras-related protein Rab-26 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related protein Rab-26 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043149 name: level of Ras-related protein Rab-27A in blood serum def: "The amount of a Ras-related protein Rab-27A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related protein Rab-27A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043150 name: level of Ras-related protein Rab-27B in blood serum def: "The amount of a Ras-related protein Rab-27B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related protein Rab-27B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043151 name: level of Ras-related protein Rab-2A in blood serum def: "The amount of a Ras-related protein Rab-2A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related protein Rab-2A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043152 name: level of Ras-related protein Rab-2B in blood serum def: "The amount of a Ras-related protein Rab-2B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related protein Rab-2B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043153 name: level of Ras-related protein Rab-31 in blood serum def: "The amount of a Ras-related protein Rab-31 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related protein Rab-31 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043154 name: level of Ras-related protein Rab-33A in blood serum def: "The amount of a Ras-related protein Rab-33A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related protein Rab-33A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043155 name: level of Ras-related protein Rab-37 in blood serum def: "The amount of a Ras-related protein Rab-37 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related protein Rab-37 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043156 name: level of Ras-related protein Rab-38 in blood serum def: "The amount of a Ras-related protein Rab-38 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related protein Rab-38 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043157 name: level of Ras-related protein Rab-39B in blood serum def: "The amount of a Ras-related protein Rab-39B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related protein Rab-39B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043158 name: level of Ras-related protein Rab-3A in blood serum def: "The amount of a Ras-related protein Rab-3A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related protein Rab-3A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043159 name: level of Ras-related protein Rab-3B in blood serum def: "The amount of a Ras-related protein Rab-3B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related protein Rab-3B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043160 name: level of Ras-related protein Rab-3C in blood serum def: "The amount of a Ras-related protein Rab-3C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related protein Rab-3C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043161 name: level of Ras-related protein Rab-3D in blood serum def: "The amount of a Ras-related protein Rab-3D when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related protein Rab-3D amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043162 name: level of guanine nucleotide exchange factor for Rab-3A in blood serum def: "The amount of a guanine nucleotide exchange factor for Rab-3A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum guanine nucleotide exchange factor for Rab-3A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043163 name: level of Ras-related protein Rab-43 in blood serum def: "The amount of a Ras-related protein Rab-43 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related protein Rab-43 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043164 name: level of Ras-related protein Rab-4A in blood serum def: "The amount of a Ras-related protein Rab-4A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related protein Rab-4A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043165 name: level of Ras-related protein Rab-4B in blood serum def: "The amount of a Ras-related protein Rab-4B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related protein Rab-4B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043166 name: level of Ras-related protein Rab-5A in blood serum def: "The amount of a Ras-related protein Rab-5A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related protein Rab-5A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043167 name: level of Ras-related protein Rab-5B in blood serum def: "The amount of a Ras-related protein Rab-5B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related protein Rab-5B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043168 name: level of Ras-related protein Rab-5C in blood serum def: "The amount of a Ras-related protein Rab-5C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related protein Rab-5C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043169 name: level of Ras-related protein Rab-6A in blood serum def: "The amount of a Ras-related protein Rab-6A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related protein Rab-6A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043170 name: level of Ras-related protein Rab-6B in blood serum def: "The amount of a Ras-related protein Rab-6B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related protein Rab-6B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043171 name: level of Ras-related protein Rab-7a in blood serum def: "The amount of a Ras-related protein Rab-7a when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related protein Rab-7a amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043172 name: level of Ras-related protein Rab-7b in blood serum def: "The amount of a Ras-related protein Rab-7b when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related protein Rab-7b amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043173 name: level of Rab GTPase-binding effector protein 1 in blood serum def: "The amount of a Rab GTPase-binding effector protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Rab GTPase-binding effector protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043174 name: level of Rab9 effector protein with Kelch motifs in blood serum def: "The amount of a Rab9 effector protein with Kelch motifs when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Rab9 effector protein with Kelch motifs amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043175 name: level of Rab GTPase-activating protein 1-like in blood serum def: "The amount of a Rab GTPase-activating protein 1-like when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Rab GTPase-activating protein 1-like amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043176 name: level of Rab-like protein 3 in blood serum def: "The amount of a Rab-like protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Rab-like protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043177 name: level of intraflagellar transport protein 22 in blood serum def: "The amount of a intraflagellar transport protein 22 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum intraflagellar transport protein 22 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043178 name: level of cell cycle checkpoint protein RAD1 in blood serum def: "The amount of a cell cycle checkpoint protein RAD1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cell cycle checkpoint protein RAD1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043179 name: level of E3 ubiquitin-protein ligase RAD18 in blood serum def: "The amount of a E3 ubiquitin-protein ligase RAD18 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 ubiquitin-protein ligase RAD18 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043180 name: level of UV excision repair protein RAD23 homolog A in blood serum def: "The amount of a UV excision repair protein RAD23 homolog A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum UV excision repair protein RAD23 homolog A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043181 name: level of UV excision repair protein RAD23 homolog B in blood serum def: "The amount of a UV excision repair protein RAD23 homolog B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum UV excision repair protein RAD23 homolog B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043182 name: level of DNA repair protein RAD51 homolog 3 in blood serum def: "The amount of a DNA repair protein RAD51 homolog 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA repair protein RAD51 homolog 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043183 name: level of DNA repair protein RAD51 homolog 4 in blood serum def: "The amount of a DNA repair protein RAD51 homolog 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA repair protein RAD51 homolog 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043184 name: level of UL-16 binding protein 5 in blood serum def: "The amount of a UL-16 binding protein 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum UL-16 binding protein 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043185 name: level of UL16-binding protein 6 in blood serum def: "The amount of a UL16-binding protein 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum UL16-binding protein 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043186 name: level of Ras-related protein Ral-A in blood serum def: "The amount of a Ras-related protein Ral-A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related protein Ral-A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043187 name: level of RNA-binding Raly-like protein in blood serum def: "The amount of a RNA-binding Raly-like protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RNA-binding Raly-like protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043188 name: level of receptor activity-modifying protein 1 in blood serum def: "The amount of a receptor activity-modifying protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum receptor activity-modifying protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043189 name: level of receptor activity-modifying protein 3 in blood serum def: "The amount of a receptor activity-modifying protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum receptor activity-modifying protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043190 name: level of Ran-specific GTPase-activating protein in blood serum def: "The amount of a Ran-specific GTPase-activating protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ran-specific GTPase-activating protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043191 name: level of Ran-binding protein 3 in blood serum def: "The amount of a Ran-binding protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ran-binding protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043192 name: level of Ran GTPase-activating protein 1 in blood serum def: "The amount of a Ran GTPase-activating protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ran GTPase-activating protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043193 name: level of Rap1 GTPase-activating protein 1 in blood serum def: "The amount of a Rap1 GTPase-activating protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Rap1 GTPase-activating protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043194 name: level of Rap1 GTPase-GDP dissociation stimulator 1 in blood serum def: "The amount of a Rap1 GTPase-GDP dissociation stimulator 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Rap1 GTPase-GDP dissociation stimulator 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043195 name: level of Ras-related protein Rap-2a in blood serum def: "The amount of a Ras-related protein Rap-2a when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related protein Rap-2a amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043196 name: level of Rap guanine nucleotide exchange factor 1 in blood serum def: "The amount of a Rap guanine nucleotide exchange factor 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Rap guanine nucleotide exchange factor 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043197 name: level of Rap guanine nucleotide exchange factor 5 in blood serum def: "The amount of a Rap guanine nucleotide exchange factor 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Rap guanine nucleotide exchange factor 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043198 name: level of retinoic acid receptor responder protein 1 in blood serum def: "The amount of a retinoic acid receptor responder protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum retinoic acid receptor responder protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043199 name: level of phospholipase A and acyltransferase 4 in blood serum def: "The amount of a phospholipase A and acyltransferase 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phospholipase A and acyltransferase 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043200 name: level of Ras association domain-containing protein 2 in blood serum def: "The amount of a Ras association domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras association domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043201 name: level of Ras association domain-containing protein 5 in blood serum def: "The amount of a Ras association domain-containing protein 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras association domain-containing protein 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043202 name: level of retinoblastoma-binding protein 5 in blood serum def: "The amount of a retinoblastoma-binding protein 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum retinoblastoma-binding protein 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043203 name: level of E3 ubiquitin-protein ligase RBBP6 in blood serum def: "The amount of a E3 ubiquitin-protein ligase RBBP6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 ubiquitin-protein ligase RBBP6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043204 name: level of splicing factor 45 in blood serum def: "The amount of a splicing factor 45 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum splicing factor 45 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043205 name: level of pre-mRNA-splicing factor RBM22 in blood serum def: "The amount of a pre-mRNA-splicing factor RBM22 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pre-mRNA-splicing factor RBM22 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043206 name: level of RNA-binding protein 24 in blood serum def: "The amount of a RNA-binding protein 24 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RNA-binding protein 24 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043207 name: level of RNA-binding protein 4 in blood serum def: "The amount of a RNA-binding protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RNA-binding protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043208 name: level of RNA-binding protein 41 in blood serum def: "The amount of a RNA-binding protein 41 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RNA-binding protein 41 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043209 name: level of RNA binding protein fox-1 homolog 2 in blood serum def: "The amount of a RNA binding protein fox-1 homolog 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RNA binding protein fox-1 homolog 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043210 name: level of RNA-binding motif, single-stranded-interacting protein 1 in blood serum def: "The amount of a RNA-binding motif, single-stranded-interacting protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RNA-binding motif, single-stranded-interacting protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043211 name: level of retinol-binding protein 1 in blood serum def: "The amount of a retinol-binding protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum retinol-binding protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043212 name: level of retinol-binding protein 2 in blood serum def: "The amount of a retinol-binding protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum retinol-binding protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043213 name: level of retinol-binding protein 5 in blood serum def: "The amount of a retinol-binding protein 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum retinol-binding protein 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043214 name: level of retinoid-binding protein 7 in blood serum def: "The amount of a retinoid-binding protein 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum retinoid-binding protein 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043215 name: level of RNA-binding protein with multiple splicing 2 in blood serum def: "The amount of a RNA-binding protein with multiple splicing 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RNA-binding protein with multiple splicing 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043216 name: level of calcipressin-1 in blood serum def: "The amount of a calcipressin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calcipressin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043217 name: level of calcipressin-2 in blood serum def: "The amount of a calcipressin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calcipressin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043218 name: level of calcipressin-3 in blood serum def: "The amount of a calcipressin-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calcipressin-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043219 name: level of 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 in blood serum def: "The amount of a 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043220 name: level of reticulocalbin-3 in blood serum def: "The amount of a reticulocalbin-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum reticulocalbin-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043221 name: level of Capz-interacting protein in blood serum def: "The amount of a Capz-interacting protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Capz-interacting protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043222 name: level of recoverin in blood serum def: "The amount of a recoverin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum recoverin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043223 name: level of negative elongation factor E in blood serum def: "The amount of a negative elongation factor E when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum negative elongation factor E amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043224 name: level of retinol dehydrogenase 10 in blood serum def: "The amount of a retinol dehydrogenase 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum retinol dehydrogenase 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043225 name: level of retinol dehydrogenase 12 in blood serum def: "The amount of a retinol dehydrogenase 12 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum retinol dehydrogenase 12 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043226 name: level of retinol dehydrogenase 13 in blood serum def: "The amount of a retinol dehydrogenase 13 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum retinol dehydrogenase 13 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043227 name: level of retinol dehydrogenase 16 in blood serum def: "The amount of a retinol dehydrogenase 16 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum retinol dehydrogenase 16 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043228 name: level of ATP-dependent DNA helicase Q1 in blood serum def: "The amount of a ATP-dependent DNA helicase Q1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ATP-dependent DNA helicase Q1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043229 name: level of receptor expression-enhancing protein 2 in blood serum def: "The amount of a receptor expression-enhancing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum receptor expression-enhancing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043230 name: level of lithostathine-1-alpha in blood serum def: "The amount of a lithostathine-1-alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lithostathine-1-alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043231 name: level of lithostathine-1-beta in blood serum def: "The amount of a lithostathine-1-beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lithostathine-1-beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043232 name: level of regenerating islet-derived protein 3-alpha in blood serum def: "The amount of a regenerating islet-derived protein 3-alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum regenerating islet-derived protein 3-alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043233 name: level of regenerating islet-derived protein 3-gamma in blood serum def: "The amount of a regenerating islet-derived protein 3-gamma when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum regenerating islet-derived protein 3-gamma amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043234 name: level of transcription factor RelB in blood serum def: "The amount of a transcription factor RelB when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription factor RelB amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043235 name: level of RELT-like protein 1 in blood serum def: "The amount of a RELT-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RELT-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043236 name: level of RELT-like protein 2 in blood serum def: "The amount of a RELT-like protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RELT-like protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043237 name: level of reelin in blood serum def: "The amount of a reelin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum reelin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043238 name: level of GTP-binding protein REM 1 in blood serum def: "The amount of a GTP-binding protein REM 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum GTP-binding protein REM 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043239 name: level of replication initiator 1 in blood serum def: "The amount of a replication initiator 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum replication initiator 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043240 name: level of RalBP1-associated Eps domain-containing protein 2 in blood serum def: "The amount of a RalBP1-associated Eps domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RalBP1-associated Eps domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043241 name: level of protein RER1 in blood serum def: "The amount of a protein RER1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein RER1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043242 name: level of Ras-related and estrogen-regulated growth inhibitor in blood serum def: "The amount of a Ras-related and estrogen-regulated growth inhibitor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related and estrogen-regulated growth inhibitor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043243 name: level of resistin-like beta in blood serum def: "The amount of a resistin-like beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum resistin-like beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043244 name: level of oligoribonuclease, mitochondrial in blood serum def: "The amount of a oligoribonuclease, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum oligoribonuclease, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043245 name: level of E3 ubiquitin-protein ligase rififylin in blood serum def: "The amount of a E3 ubiquitin-protein ligase rififylin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 ubiquitin-protein ligase rififylin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043246 name: level of riboflavin kinase in blood serum def: "The amount of a riboflavin kinase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum riboflavin kinase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043247 name: level of beta-1,3-N-acetylglucosaminyltransferase radical fringe in blood serum def: "The amount of a beta-1,3-N-acetylglucosaminyltransferase radical fringe when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-1,3-N-acetylglucosaminyltransferase radical fringe amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043248 name: level of ret finger protein-like 3 in blood serum def: "The amount of a ret finger protein-like 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ret finger protein-like 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043249 name: level of DNA-binding protein RFX5 in blood serum def: "The amount of a DNA-binding protein RFX5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA-binding protein RFX5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043250 name: level of regulatory factor X-associated protein in blood serum def: "The amount of a regulatory factor X-associated protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum regulatory factor X-associated protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043251 name: level of regucalcin in blood serum def: "The amount of a regucalcin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum regucalcin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043252 name: level of regulator of G-protein signaling 1 in blood serum def: "The amount of a regulator of G-protein signaling 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum regulator of G-protein signaling 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043253 name: level of regulator of G-protein signaling 10 in blood serum def: "The amount of a regulator of G-protein signaling 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum regulator of G-protein signaling 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043254 name: level of regulator of G-protein signaling 13 in blood serum def: "The amount of a regulator of G-protein signaling 13 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum regulator of G-protein signaling 13 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043255 name: level of regulator of G-protein signaling 14 in blood serum def: "The amount of a regulator of G-protein signaling 14 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum regulator of G-protein signaling 14 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043256 name: level of regulator of G-protein signaling 16 in blood serum def: "The amount of a regulator of G-protein signaling 16 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum regulator of G-protein signaling 16 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043257 name: level of regulator of G-protein signaling 18 in blood serum def: "The amount of a regulator of G-protein signaling 18 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum regulator of G-protein signaling 18 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043258 name: level of regulator of G-protein signaling 19 in blood serum def: "The amount of a regulator of G-protein signaling 19 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum regulator of G-protein signaling 19 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043259 name: level of regulator of G-protein signaling 21 in blood serum def: "The amount of a regulator of G-protein signaling 21 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum regulator of G-protein signaling 21 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043260 name: level of regulator of G-protein signaling 3 in blood serum def: "The amount of a regulator of G-protein signaling 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum regulator of G-protein signaling 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043261 name: level of regulator of G-protein signaling 4 in blood serum def: "The amount of a regulator of G-protein signaling 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum regulator of G-protein signaling 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043262 name: level of regulator of G-protein signaling 5 in blood serum def: "The amount of a regulator of G-protein signaling 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum regulator of G-protein signaling 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043263 name: level of regulator of G-protein signaling 8 in blood serum def: "The amount of a regulator of G-protein signaling 8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum regulator of G-protein signaling 8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043264 name: level of Rho-related GTP-binding protein RhoB in blood serum def: "The amount of a Rho-related GTP-binding protein RhoB when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Rho-related GTP-binding protein RhoB amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043265 name: level of Rho-related GTP-binding protein RhoC in blood serum def: "The amount of a Rho-related GTP-binding protein RhoC when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Rho-related GTP-binding protein RhoC amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043266 name: level of Rho-related GTP-binding protein RhoD in blood serum def: "The amount of a Rho-related GTP-binding protein RhoD when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Rho-related GTP-binding protein RhoD amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043267 name: level of Rho-related GTP-binding protein RhoG in blood serum def: "The amount of a Rho-related GTP-binding protein RhoG when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Rho-related GTP-binding protein RhoG amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043268 name: level of Rho-related GTP-binding protein RhoQ in blood serum def: "The amount of a Rho-related GTP-binding protein RhoQ when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Rho-related GTP-binding protein RhoQ amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043269 name: level of mitochondrial Rho GTPase 1 in blood serum def: "The amount of a mitochondrial Rho GTPase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mitochondrial Rho GTPase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043270 name: level of rhophilin-2 in blood serum def: "The amount of a rhophilin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum rhophilin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043271 name: level of protein RIC-3 in blood serum def: "The amount of a protein RIC-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein RIC-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043272 name: level of synembryn-A in blood serum def: "The amount of a synembryn-A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum synembryn-A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043273 name: level of Rab-interacting lysosomal protein in blood serum def: "The amount of a Rab-interacting lysosomal protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Rab-interacting lysosomal protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043274 name: level of RILP-like protein 1 in blood serum def: "The amount of a RILP-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RILP-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043275 name: level of RILP-like protein 2 in blood serum def: "The amount of a RILP-like protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RILP-like protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043276 name: level of receptor-interacting serine/threonine-protein kinase 2 in blood serum def: "The amount of a receptor-interacting serine/threonine-protein kinase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum receptor-interacting serine/threonine-protein kinase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043277 name: level of protein ripply1 in blood serum def: "The amount of a protein ripply1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein ripply1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043278 name: level of retinaldehyde-binding protein 1 in blood serum def: "The amount of a retinaldehyde-binding protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum retinaldehyde-binding protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043279 name: level of RecQ-mediated genome instability protein 1 in blood serum def: "The amount of a RecQ-mediated genome instability protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RecQ-mediated genome instability protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043280 name: level of ribonuclease pancreatic in blood serum def: "The amount of a ribonuclease pancreatic when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ribonuclease pancreatic amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043281 name: level of ribonuclease-like protein 10 in blood serum def: "The amount of a ribonuclease-like protein 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ribonuclease-like protein 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043282 name: level of ribonuclease-like protein 13 in blood serum def: "The amount of a ribonuclease-like protein 13 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ribonuclease-like protein 13 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043283 name: level of non-secretory ribonuclease in blood serum def: "The amount of a non-secretory ribonuclease when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum non-secretory ribonuclease amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043284 name: level of ribonuclease 4 in blood serum def: "The amount of a ribonuclease 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ribonuclease 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043285 name: level of ribonuclease K6 in blood serum def: "The amount of a ribonuclease K6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ribonuclease K6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043286 name: level of Rho-related GTP-binding protein Rho6 in blood serum def: "The amount of a Rho-related GTP-binding protein Rho6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Rho-related GTP-binding protein Rho6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043287 name: level of Rho-related GTP-binding protein RhoE in blood serum def: "The amount of a Rho-related GTP-binding protein RhoE when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Rho-related GTP-binding protein RhoE amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043288 name: level of E3 ubiquitin-protein ligase RNF114 in blood serum def: "The amount of a E3 ubiquitin-protein ligase RNF114 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 ubiquitin-protein ligase RNF114 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043289 name: level of RING finger protein 122 in blood serum def: "The amount of a RING finger protein 122 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RING finger protein 122 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043290 name: level of E3 ubiquitin-protein ligase RNF13 in blood serum def: "The amount of a E3 ubiquitin-protein ligase RNF13 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 ubiquitin-protein ligase RNF13 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043291 name: level of RING finger protein 141 in blood serum def: "The amount of a RING finger protein 141 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RING finger protein 141 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043292 name: level of E3 ubiquitin-protein ligase RNF146 in blood serum def: "The amount of a E3 ubiquitin-protein ligase RNF146 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 ubiquitin-protein ligase RNF146 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043293 name: level of E3 ubiquitin-protein ligase RNF149 in blood serum def: "The amount of a E3 ubiquitin-protein ligase RNF149 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 ubiquitin-protein ligase RNF149 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043294 name: level of RING finger protein 150 in blood serum def: "The amount of a RING finger protein 150 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RING finger protein 150 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043295 name: level of RING finger protein 24 in blood serum def: "The amount of a RING finger protein 24 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RING finger protein 24 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043296 name: level of E3 ubiquitin-protein ligase RNF25 in blood serum def: "The amount of a E3 ubiquitin-protein ligase RNF25 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 ubiquitin-protein ligase RNF25 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043297 name: level of E3 ubiquitin-protein ligase RNF31 in blood serum def: "The amount of a E3 ubiquitin-protein ligase RNF31 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 ubiquitin-protein ligase RNF31 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043298 name: level of E3 ubiquitin-protein ligase RNF34 in blood serum def: "The amount of a E3 ubiquitin-protein ligase RNF34 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 ubiquitin-protein ligase RNF34 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043299 name: level of E3 ubiquitin-protein ligase NRDP1 in blood serum def: "The amount of a E3 ubiquitin-protein ligase NRDP1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 ubiquitin-protein ligase NRDP1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043300 name: level of E3 ubiquitin-protein ligase RNF8 in blood serum def: "The amount of a E3 ubiquitin-protein ligase RNF8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 ubiquitin-protein ligase RNF8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043301 name: level of mRNA-capping enzyme in blood serum def: "The amount of a mRNA-capping enzyme when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mRNA-capping enzyme amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043302 name: level of RNA-binding region-containing protein 3 in blood serum def: "The amount of a RNA-binding region-containing protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RNA-binding region-containing protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043303 name: level of aminopeptidase B in blood serum def: "The amount of a aminopeptidase B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum aminopeptidase B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043304 name: level of ragulator complex protein LAMTOR2 in blood serum def: "The amount of a ragulator complex protein LAMTOR2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ragulator complex protein LAMTOR2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043305 name: level of roundabout homolog 1 in blood serum def: "The amount of a roundabout homolog 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum roundabout homolog 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043306 name: level of roundabout homolog 4 in blood serum def: "The amount of a roundabout homolog 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum roundabout homolog 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043307 name: level of protein rogdi in blood serum def: "The amount of a protein rogdi when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein rogdi amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043308 name: level of ropporin-1B in blood serum def: "The amount of a ropporin-1B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ropporin-1B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043309 name: level of tyrosine-protein kinase transmembrane receptor ROR1 in blood serum def: "The amount of a tyrosine-protein kinase transmembrane receptor ROR1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tyrosine-protein kinase transmembrane receptor ROR1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043310 name: level of tyrosine-protein kinase transmembrane receptor ROR2 in blood serum def: "The amount of a tyrosine-protein kinase transmembrane receptor ROR2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tyrosine-protein kinase transmembrane receptor ROR2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043311 name: level of nuclear receptor ROR-beta in blood serum def: "The amount of a nuclear receptor ROR-beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nuclear receptor ROR-beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043312 name: level of proto-oncogene tyrosine-protein kinase ROS in blood serum def: "The amount of a proto-oncogene tyrosine-protein kinase ROS when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum proto-oncogene tyrosine-protein kinase ROS amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043313 name: level of retinitis pigmentosa 9 protein in blood serum def: "The amount of a retinitis pigmentosa 9 protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum retinitis pigmentosa 9 protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043314 name: level of replication protein A 32 kDa subunit in blood serum def: "The amount of a replication protein A 32 kDa subunit when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum replication protein A 32 kDa subunit amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043315 name: level of RPA-interacting protein in blood serum def: "The amount of a RPA-interacting protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RPA-interacting protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043316 name: level of ribulose-phosphate 3-epimerase in blood serum def: "The amount of a ribulose-phosphate 3-epimerase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ribulose-phosphate 3-epimerase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043317 name: level of ribose-5-phosphate isomerase in blood serum def: "The amount of a ribose-5-phosphate isomerase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ribose-5-phosphate isomerase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043318 name: level of 60S ribosomal protein L11 in blood serum def: "The amount of a 60S ribosomal protein L11 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 60S ribosomal protein L11 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043319 name: level of 60S ribosomal protein L12 in blood serum def: "The amount of a 60S ribosomal protein L12 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 60S ribosomal protein L12 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043320 name: level of 60S ribosomal protein L26-like 1 in blood serum def: "The amount of a 60S ribosomal protein L26-like 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 60S ribosomal protein L26-like 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043321 name: level of 60S ribosomal protein L30 in blood serum def: "The amount of a 60S ribosomal protein L30 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 60S ribosomal protein L30 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043322 name: level of 60S ribosomal protein L38 in blood serum def: "The amount of a 60S ribosomal protein L38 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 60S ribosomal protein L38 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043323 name: level of 60S ribosomal protein L5 in blood serum def: "The amount of a 60S ribosomal protein L5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 60S ribosomal protein L5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043324 name: level of 60S acidic ribosomal protein P2 in blood serum def: "The amount of a 60S acidic ribosomal protein P2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 60S acidic ribosomal protein P2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043325 name: level of dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2 in blood serum def: "The amount of a dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043326 name: level of ribonuclease P protein subunit p25 in blood serum def: "The amount of a ribonuclease P protein subunit p25 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ribonuclease P protein subunit p25 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043327 name: level of ribonuclease P protein subunit p30 in blood serum def: "The amount of a ribonuclease P protein subunit p30 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ribonuclease P protein subunit p30 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043328 name: level of ribonuclease P protein subunit p40 in blood serum def: "The amount of a ribonuclease P protein subunit p40 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ribonuclease P protein subunit p40 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043329 name: level of regulation of nuclear pre-mRNA domain-containing protein 1A in blood serum def: "The amount of a regulation of nuclear pre-mRNA domain-containing protein 1A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum regulation of nuclear pre-mRNA domain-containing protein 1A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043330 name: level of 40S ribosomal protein S12 in blood serum def: "The amount of a 40S ribosomal protein S12 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 40S ribosomal protein S12 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043331 name: level of 40S ribosomal protein S14 in blood serum def: "The amount of a 40S ribosomal protein S14 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 40S ribosomal protein S14 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043332 name: level of 40S ribosomal protein S19 in blood serum def: "The amount of a 40S ribosomal protein S19 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 40S ribosomal protein S19 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043333 name: level of 40S ribosomal protein S20 in blood serum def: "The amount of a 40S ribosomal protein S20 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 40S ribosomal protein S20 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043334 name: level of 40S ribosomal protein S25 in blood serum def: "The amount of a 40S ribosomal protein S25 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 40S ribosomal protein S25 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043335 name: level of 40S ribosomal protein S3a in blood serum def: "The amount of a 40S ribosomal protein S3a when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 40S ribosomal protein S3a amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043336 name: level of 40S ribosomal protein S4, X isoform in blood serum def: "The amount of a 40S ribosomal protein S4, X isoform when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 40S ribosomal protein S4, X isoform amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043337 name: level of 40S ribosomal protein S5 in blood serum def: "The amount of a 40S ribosomal protein S5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 40S ribosomal protein S5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043338 name: level of ribosomal protein S6 kinase alpha-1 in blood serum def: "The amount of a ribosomal protein S6 kinase alpha-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ribosomal protein S6 kinase alpha-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043339 name: level of ribosomal protein S6 kinase alpha-6 in blood serum def: "The amount of a ribosomal protein S6 kinase alpha-6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ribosomal protein S6 kinase alpha-6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043340 name: level of CCR4-NOT transcription complex subunit 9 in blood serum def: "The amount of a CCR4-NOT transcription complex subunit 9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CCR4-NOT transcription complex subunit 9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043341 name: level of GTP-binding protein RAD in blood serum def: "The amount of a GTP-binding protein RAD when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum GTP-binding protein RAD amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043342 name: level of Ras-related GTP-binding protein C in blood serum def: "The amount of a Ras-related GTP-binding protein C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related GTP-binding protein C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043343 name: level of Ras-related protein R-Ras in blood serum def: "The amount of a Ras-related protein R-Ras when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related protein R-Ras amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043344 name: level of Ras-related protein R-Ras2 in blood serum def: "The amount of a Ras-related protein R-Ras2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ras-related protein R-Ras2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043345 name: level of ribosome-binding protein 1 in blood serum def: "The amount of a ribosome-binding protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ribosome-binding protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043346 name: level of ribonucleoside-diphosphate reductase large subunit in blood serum def: "The amount of a ribonucleoside-diphosphate reductase large subunit when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ribonucleoside-diphosphate reductase large subunit amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043347 name: level of ribonucleoside-diphosphate reductase subunit M2 in blood serum def: "The amount of a ribonucleoside-diphosphate reductase subunit M2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ribonucleoside-diphosphate reductase subunit M2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043348 name: level of ribonucleoside-diphosphate reductase subunit M2 B in blood serum def: "The amount of a ribonucleoside-diphosphate reductase subunit M2 B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ribonucleoside-diphosphate reductase subunit M2 B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043349 name: level of retinoschisin in blood serum def: "The amount of a retinoschisin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum retinoschisin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043350 name: level of R-spondin-1 in blood serum def: "The amount of a R-spondin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum R-spondin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043351 name: level of RNA polymerase-associated protein RTF1 in blood serum def: "The amount of a RNA polymerase-associated protein RTF1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RNA polymerase-associated protein RTF1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043352 name: level of reticulon-1 in blood serum def: "The amount of a reticulon-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum reticulon-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043353 name: level of reticulon-4-interacting protein 1 in blood serum def: "The amount of a reticulon-4-interacting protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum reticulon-4-interacting protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043354 name: level of reticulon-4 receptor-like 1 in blood serum def: "The amount of a reticulon-4 receptor-like 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum reticulon-4 receptor-like 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043355 name: level of receptor-transporting protein 4 in blood serum def: "The amount of a receptor-transporting protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum receptor-transporting protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043356 name: level of runt-related transcription factor 3 in blood serum def: "The amount of a runt-related transcription factor 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum runt-related transcription factor 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043357 name: level of RuvB-like 1 in blood serum def: "The amount of a RuvB-like 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RuvB-like 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043358 name: level of RWD domain-containing protein 1 in blood serum def: "The amount of a RWD domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RWD domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043359 name: level of retinoic acid receptor RXR-alpha in blood serum def: "The amount of a retinoic acid receptor RXR-alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum retinoic acid receptor RXR-alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043360 name: level of RING1 and YY1-binding protein in blood serum def: "The amount of a RING1 and YY1-binding protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RING1 and YY1-binding protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043361 name: level of tyrosine-protein kinase RYK in blood serum def: "The amount of a tyrosine-protein kinase RYK when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tyrosine-protein kinase RYK amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043362 name: level of protein S100-A10 in blood serum def: "The amount of a protein S100-A10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein S100-A10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043363 name: level of protein S100-A11 in blood serum def: "The amount of a protein S100-A11 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein S100-A11 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043364 name: level of protein S100-A13 in blood serum def: "The amount of a protein S100-A13 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein S100-A13 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043365 name: level of protein S100-A14 in blood serum def: "The amount of a protein S100-A14 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein S100-A14 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043366 name: level of protein S100-A16 in blood serum def: "The amount of a protein S100-A16 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein S100-A16 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043367 name: level of protein S100-A2 in blood serum def: "The amount of a protein S100-A2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein S100-A2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043368 name: level of protein S100-A5 in blood serum def: "The amount of a protein S100-A5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein S100-A5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043369 name: level of protein S100-A8 in blood serum def: "The amount of a protein S100-A8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein S100-A8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043370 name: level of protein S100-A9 in blood serum def: "The amount of a protein S100-A9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein S100-A9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043371 name: level of protein S100-P in blood serum def: "The amount of a protein S100-P when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein S100-P amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043372 name: level of protein S100-Z in blood serum def: "The amount of a protein S100-Z when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein S100-Z amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043373 name: level of primate-type serum amyloid A-4 protein in blood serum def: "The amount of a primate-type serum amyloid A-4 protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum primate-type serum amyloid A-4 protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043374 name: level of S-arrestin in blood serum def: "The amount of a S-arrestin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum S-arrestin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043375 name: level of deoxynucleoside triphosphate triphosphohydrolase SAMHD1 in blood serum def: "The amount of a deoxynucleoside triphosphate triphosphohydrolase SAMHD1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum deoxynucleoside triphosphate triphosphohydrolase SAMHD1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043376 name: level of sorting and assembly machinery component 50 in blood serum def: "The amount of a sorting and assembly machinery component 50 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sorting and assembly machinery component 50 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043377 name: level of histone deacetylase complex subunit SAP18 in blood serum def: "The amount of a histone deacetylase complex subunit SAP18 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum histone deacetylase complex subunit SAP18 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043378 name: level of histone deacetylase complex subunit SAP30 in blood serum def: "The amount of a histone deacetylase complex subunit SAP30 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum histone deacetylase complex subunit SAP30 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043379 name: level of histone deacetylase complex subunit SAP30L in blood serum def: "The amount of a histone deacetylase complex subunit SAP30L when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum histone deacetylase complex subunit SAP30L amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043380 name: level of GTP-binding protein SAR1a in blood serum def: "The amount of a GTP-binding protein SAR1a when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum GTP-binding protein SAR1a amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043381 name: level of GTP-binding protein SAR1b in blood serum def: "The amount of a GTP-binding protein SAR1b when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum GTP-binding protein SAR1b amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043382 name: level of specifically androgen-regulated gene protein in blood serum def: "The amount of a specifically androgen-regulated gene protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum specifically androgen-regulated gene protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043383 name: level of serine--tRNA ligase, cytoplasmic in blood serum def: "The amount of a serine--tRNA ligase, cytoplasmic when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine--tRNA ligase, cytoplasmic amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043384 name: level of serine--tRNA ligase, mitochondrial in blood serum def: "The amount of a serine--tRNA ligase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine--tRNA ligase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043385 name: level of diamine acetyltransferase 1 in blood serum def: "The amount of a diamine acetyltransferase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum diamine acetyltransferase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043386 name: level of thialysine N-epsilon-acetyltransferase in blood serum def: "The amount of a thialysine N-epsilon-acetyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum thialysine N-epsilon-acetyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043387 name: level of DNA-binding protein SATB1 in blood serum def: "The amount of a DNA-binding protein SATB1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA-binding protein SATB1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043388 name: level of DNA-binding protein SATB2 in blood serum def: "The amount of a DNA-binding protein SATB2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA-binding protein SATB2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043389 name: level of suprabasin in blood serum def: "The amount of a suprabasin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum suprabasin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043390 name: level of secretory carrier-associated membrane protein 5 in blood serum def: "The amount of a secretory carrier-associated membrane protein 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum secretory carrier-associated membrane protein 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043391 name: level of SCAN domain-containing protein 1 in blood serum def: "The amount of a SCAN domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SCAN domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043392 name: level of scavenger receptor class A member 5 in blood serum def: "The amount of a scavenger receptor class A member 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum scavenger receptor class A member 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043393 name: level of scavenger receptor class B member 1 in blood serum def: "The amount of a scavenger receptor class B member 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum scavenger receptor class B member 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043394 name: level of Sec1 family domain-containing protein 1 in blood serum def: "The amount of a Sec1 family domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Sec1 family domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043395 name: level of secretogranin-3 in blood serum def: "The amount of a secretogranin-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum secretogranin-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043396 name: level of neuroendocrine protein 7B2 in blood serum def: "The amount of a neuroendocrine protein 7B2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neuroendocrine protein 7B2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043397 name: level of secretoglobin family 1D member 1 in blood serum def: "The amount of a secretoglobin family 1D member 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum secretoglobin family 1D member 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043398 name: level of secretoglobin family 1D member 2 in blood serum def: "The amount of a secretoglobin family 1D member 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum secretoglobin family 1D member 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043399 name: level of secretoglobin family 3A member 1 in blood serum def: "The amount of a secretoglobin family 3A member 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum secretoglobin family 3A member 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043400 name: level of secretagogin in blood serum def: "The amount of a secretagogin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum secretagogin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043401 name: level of scinderin in blood serum def: "The amount of a scinderin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum scinderin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043402 name: level of selenocysteine lyase in blood serum def: "The amount of a selenocysteine lyase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum selenocysteine lyase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043403 name: level of polycomb protein SCMH1 in blood serum def: "The amount of a polycomb protein SCMH1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum polycomb protein SCMH1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043404 name: level of sodium channel subunit beta-2 in blood serum def: "The amount of a sodium channel subunit beta-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sodium channel subunit beta-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043405 name: level of sodium channel subunit beta-3 in blood serum def: "The amount of a sodium channel subunit beta-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sodium channel subunit beta-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043406 name: level of sodium channel subunit beta-4 in blood serum def: "The amount of a sodium channel subunit beta-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sodium channel subunit beta-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043407 name: level of protein SCO1, mitochondrial in blood serum def: "The amount of a protein SCO1, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein SCO1, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043408 name: level of protein SCO2, mitochondrial in blood serum def: "The amount of a protein SCO2, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein SCO2, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043409 name: level of secernin-3 in blood serum def: "The amount of a secernin-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum secernin-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043410 name: level of signal peptide, CUB and EGF-like domain-containing protein 1 in blood serum def: "The amount of a signal peptide, CUB and EGF-like domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum signal peptide, CUB and EGF-like domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043411 name: level of syntenin-1 in blood serum def: "The amount of a syntenin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum syntenin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043412 name: level of syntenin-2 in blood serum def: "The amount of a syntenin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum syntenin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043413 name: level of stromal cell-derived factor 2 in blood serum def: "The amount of a stromal cell-derived factor 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum stromal cell-derived factor 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043414 name: level of stromal cell-derived factor 2-like protein 1 in blood serum def: "The amount of a stromal cell-derived factor 2-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum stromal cell-derived factor 2-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043415 name: level of succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial in blood serum def: "The amount of a succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043416 name: level of serine dehydratase-like in blood serum def: "The amount of a serine dehydratase-like when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine dehydratase-like amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043417 name: level of protein SEC13 in blood serum def: "The amount of a protein SEC13 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein SEC13 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043418 name: level of SEC14-like protein 4 in blood serum def: "The amount of a SEC14-like protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SEC14-like protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043419 name: level of vesicle-trafficking protein SEC22a in blood serum def: "The amount of a vesicle-trafficking protein SEC22a when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum vesicle-trafficking protein SEC22a amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043420 name: level of protein transport protein Sec61 subunit beta in blood serum def: "The amount of a protein transport protein Sec61 subunit beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein transport protein Sec61 subunit beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043421 name: level of protein transport protein Sec61 subunit gamma in blood serum def: "The amount of a protein transport protein Sec61 subunit gamma when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein transport protein Sec61 subunit gamma amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043422 name: level of protein sel-1 homolog 2 in blood serum def: "The amount of a protein sel-1 homolog 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein sel-1 homolog 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043423 name: level of methanethiol oxidase in blood serum def: "The amount of a methanethiol oxidase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum methanethiol oxidase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043424 name: level of selenoprotein H in blood serum def: "The amount of a selenoprotein H when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum selenoprotein H amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043425 name: level of selenoprotein M in blood serum def: "The amount of a selenoprotein M when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum selenoprotein M amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043426 name: level of selenoprotein S in blood serum def: "The amount of a selenoprotein S when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum selenoprotein S amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043427 name: level of semaphorin-3B in blood serum def: "The amount of a semaphorin-3B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum semaphorin-3B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043428 name: level of semaphorin-3C in blood serum def: "The amount of a semaphorin-3C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum semaphorin-3C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043429 name: level of semaphorin-3G in blood serum def: "The amount of a semaphorin-3G when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum semaphorin-3G amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043430 name: level of semaphorin-4A in blood serum def: "The amount of a semaphorin-4A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum semaphorin-4A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043431 name: level of semaphorin-4B in blood serum def: "The amount of a semaphorin-4B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum semaphorin-4B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043432 name: level of semaphorin-4C in blood serum def: "The amount of a semaphorin-4C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum semaphorin-4C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043433 name: level of semaphorin-4F in blood serum def: "The amount of a semaphorin-4F when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum semaphorin-4F amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043434 name: level of semaphorin-4G in blood serum def: "The amount of a semaphorin-4G when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum semaphorin-4G amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043435 name: level of semaphorin-5B in blood serum def: "The amount of a semaphorin-5B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum semaphorin-5B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043436 name: level of semaphorin-6C in blood serum def: "The amount of a semaphorin-6C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum semaphorin-6C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043437 name: level of semaphorin-6D in blood serum def: "The amount of a semaphorin-6D when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum semaphorin-6D amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043438 name: level of semenogelin-1 in blood serum def: "The amount of a semenogelin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum semenogelin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043439 name: level of sentrin-specific protease 1 in blood serum def: "The amount of a sentrin-specific protease 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sentrin-specific protease 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043440 name: level of sentrin-specific protease 2 in blood serum def: "The amount of a sentrin-specific protease 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sentrin-specific protease 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043441 name: level of sentrin-specific protease 7 in blood serum def: "The amount of a sentrin-specific protease 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sentrin-specific protease 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043442 name: level of sentrin-specific protease 8 in blood serum def: "The amount of a sentrin-specific protease 8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sentrin-specific protease 8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043443 name: level of selenoprotein F in blood serum def: "The amount of a selenoprotein F when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum selenoprotein F amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043444 name: level of selenide, water dikinase 1 in blood serum def: "The amount of a selenide, water dikinase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum selenide, water dikinase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043445 name: level of O-phosphoseryl-tRNA(Sec) selenium transferase in blood serum def: "The amount of a O-phosphoseryl-tRNA(Sec) selenium transferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum O-phosphoseryl-tRNA(Sec) selenium transferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043446 name: level of septin-1 in blood serum def: "The amount of a septin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum septin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043447 name: level of septin-10 in blood serum def: "The amount of a septin-10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum septin-10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043448 name: level of septin-11 in blood serum def: "The amount of a septin-11 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum septin-11 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043449 name: level of neuronal-specific septin-3 in blood serum def: "The amount of a neuronal-specific septin-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neuronal-specific septin-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043450 name: level of septin-5 in blood serum def: "The amount of a septin-5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum septin-5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043451 name: level of septin-6 in blood serum def: "The amount of a septin-6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum septin-6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043452 name: level of selenoprotein W in blood serum def: "The amount of a selenoprotein W when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum selenoprotein W amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043453 name: level of methionine-R-sulfoxide reductase B1 in blood serum def: "The amount of a methionine-R-sulfoxide reductase B1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum methionine-R-sulfoxide reductase B1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043454 name: level of protein SERAC1 in blood serum def: "The amount of a protein SERAC1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein SERAC1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043455 name: level of small EDRK-rich factor 2 in blood serum def: "The amount of a small EDRK-rich factor 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum small EDRK-rich factor 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043456 name: level of serpin A11 in blood serum def: "The amount of a serpin A11 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serpin A11 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043457 name: level of serpin A9 in blood serum def: "The amount of a serpin A9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serpin A9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043458 name: level of leukocyte elastase inhibitor in blood serum def: "The amount of a leukocyte elastase inhibitor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leukocyte elastase inhibitor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043459 name: level of serpin B13 in blood serum def: "The amount of a serpin B13 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serpin B13 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043460 name: level of serpin B3 in blood serum def: "The amount of a serpin B3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serpin B3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043461 name: level of serpin B4 in blood serum def: "The amount of a serpin B4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serpin B4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043462 name: level of serpin B5 in blood serum def: "The amount of a serpin B5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serpin B5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043463 name: level of serpin B8 in blood serum def: "The amount of a serpin B8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serpin B8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043464 name: level of serpin B9 in blood serum def: "The amount of a serpin B9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serpin B9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043465 name: level of serpin H1 in blood serum def: "The amount of a serpin H1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serpin H1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043466 name: level of serpin I2 in blood serum def: "The amount of a serpin I2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serpin I2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043467 name: level of SERTA domain-containing protein 3 in blood serum def: "The amount of a SERTA domain-containing protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SERTA domain-containing protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043468 name: level of SET-binding protein in blood serum def: "The amount of a SET-binding protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SET-binding protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043469 name: level of histone-lysine N-methyltransferase SETD2 in blood serum def: "The amount of a histone-lysine N-methyltransferase SETD2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum histone-lysine N-methyltransferase SETD2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043470 name: level of histone-lysine N-methyltransferase SETMAR in blood serum def: "The amount of a histone-lysine N-methyltransferase SETMAR when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum histone-lysine N-methyltransferase SETMAR amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043471 name: level of seizure 6-like protein in blood serum def: "The amount of a seizure 6-like protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum seizure 6-like protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043472 name: level of splicing factor 1 in blood serum def: "The amount of a splicing factor 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum splicing factor 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043473 name: level of splicing factor 3B subunit 6 in blood serum def: "The amount of a splicing factor 3B subunit 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum splicing factor 3B subunit 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043474 name: level of splicing factor 3B subunit 4 in blood serum def: "The amount of a splicing factor 3B subunit 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum splicing factor 3B subunit 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043475 name: level of secreted frizzled-related protein 2 in blood serum def: "The amount of a secreted frizzled-related protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum secreted frizzled-related protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043476 name: level of secreted frizzled-related protein 4 in blood serum def: "The amount of a secreted frizzled-related protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum secreted frizzled-related protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043477 name: level of secreted frizzled-related protein 5 in blood serum def: "The amount of a secreted frizzled-related protein 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum secreted frizzled-related protein 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043478 name: level of transformer-2 protein homolog beta in blood serum def: "The amount of a transformer-2 protein homolog beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transformer-2 protein homolog beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043479 name: level of serine/arginine-rich splicing factor 6 in blood serum def: "The amount of a serine/arginine-rich splicing factor 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine/arginine-rich splicing factor 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043480 name: level of serine/arginine-rich splicing factor 7 in blood serum def: "The amount of a serine/arginine-rich splicing factor 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine/arginine-rich splicing factor 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043481 name: level of surfactant-associated protein 2 in blood serum def: "The amount of a surfactant-associated protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum surfactant-associated protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043482 name: level of sideroflexin-5 in blood serum def: "The amount of a sideroflexin-5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sideroflexin-5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043483 name: level of serine/threonine-protein kinase Sgk1 in blood serum def: "The amount of a serine/threonine-protein kinase Sgk1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine/threonine-protein kinase Sgk1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043484 name: level of serine/threonine-protein kinase Sgk3 in blood serum def: "The amount of a serine/threonine-protein kinase Sgk3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine/threonine-protein kinase Sgk3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043485 name: level of extracellular tyrosine-protein kinase PKDCC in blood serum def: "The amount of a extracellular tyrosine-protein kinase PKDCC when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum extracellular tyrosine-protein kinase PKDCC amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043486 name: level of N-sulphoglucosamine sulphohydrolase in blood serum def: "The amount of a N-sulphoglucosamine sulphohydrolase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum N-sulphoglucosamine sulphohydrolase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043487 name: level of small glutamine-rich tetratricopeptide repeat-containing protein beta in blood serum def: "The amount of a small glutamine-rich tetratricopeptide repeat-containing protein beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum small glutamine-rich tetratricopeptide repeat-containing protein beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043488 name: level of SH2B adapter protein 3 in blood serum def: "The amount of a SH2B adapter protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SH2B adapter protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043489 name: level of SH2 domain-containing protein 1B in blood serum def: "The amount of a SH2 domain-containing protein 1B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SH2 domain-containing protein 1B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043490 name: level of SH2 domain-containing protein 3C in blood serum def: "The amount of a SH2 domain-containing protein 3C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SH2 domain-containing protein 3C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043491 name: level of endophilin-A1 in blood serum def: "The amount of a endophilin-A1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum endophilin-A1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043492 name: level of endophilin-A3 in blood serum def: "The amount of a endophilin-A3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum endophilin-A3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043493 name: level of endophilin-B1 in blood serum def: "The amount of a endophilin-B1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum endophilin-B1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043494 name: level of endophilin-B2 in blood serum def: "The amount of a endophilin-B2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum endophilin-B2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043495 name: level of SH3 domain-containing kinase-binding protein 1 in blood serum def: "The amount of a SH3 domain-containing kinase-binding protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SH3 domain-containing kinase-binding protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043496 name: level of SH3 and PX domain-containing protein 2B in blood serum def: "The amount of a SH3 and PX domain-containing protein 2B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SH3 and PX domain-containing protein 2B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043497 name: level of SH3 and multiple ankyrin repeat domains protein 1 in blood serum def: "The amount of a SH3 and multiple ankyrin repeat domains protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SH3 and multiple ankyrin repeat domains protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043498 name: level of SH3 and multiple ankyrin repeat domains protein 3 in blood serum def: "The amount of a SH3 and multiple ankyrin repeat domains protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SH3 and multiple ankyrin repeat domains protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043499 name: level of sharpin in blood serum def: "The amount of a sharpin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sharpin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043500 name: level of SH2 domain-containing adapter protein D in blood serum def: "The amount of a SH2 domain-containing adapter protein D when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SH2 domain-containing adapter protein D amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043501 name: level of protein shisa-2 in blood serum def: "The amount of a protein shisa-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein shisa-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043502 name: level of SH3KBP1-binding protein 1 in blood serum def: "The amount of a SH3KBP1-binding protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SH3KBP1-binding protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043503 name: level of serine hydroxymethyltransferase, cytosolic in blood serum def: "The amount of a serine hydroxymethyltransferase, cytosolic when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine hydroxymethyltransferase, cytosolic amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043504 name: level of serine hydroxymethyltransferase, mitochondrial in blood serum def: "The amount of a serine hydroxymethyltransferase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine hydroxymethyltransferase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043505 name: level of short stature homeobox protein in blood serum def: "The amount of a short stature homeobox protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum short stature homeobox protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043506 name: level of E3 ubiquitin-protein ligase SIAH1 in blood serum def: "The amount of a E3 ubiquitin-protein ligase SIAH1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 ubiquitin-protein ligase SIAH1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043507 name: level of single Ig IL-1-related receptor in blood serum def: "The amount of a single Ig IL-1-related receptor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum single Ig IL-1-related receptor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043508 name: level of sialic acid-binding Ig-like lectin 15 in blood serum def: "The amount of a sialic acid-binding Ig-like lectin 15 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sialic acid-binding Ig-like lectin 15 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043509 name: level of nucleotide exchange factor SIL1 in blood serum def: "The amount of a nucleotide exchange factor SIL1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nucleotide exchange factor SIL1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043510 name: level of melanocyte protein Pmel 17 in blood serum def: "The amount of a melanocyte protein Pmel 17 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum melanocyte protein Pmel 17 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043511 name: level of signal-regulatory protein beta-2 in blood serum def: "The amount of a signal-regulatory protein beta-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum signal-regulatory protein beta-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043512 name: level of signal-regulatory protein gamma in blood serum def: "The amount of a signal-regulatory protein gamma when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum signal-regulatory protein gamma amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043513 name: level of NAD-dependent protein deacetylase sirtuin-1 in blood serum def: "The amount of a NAD-dependent protein deacetylase sirtuin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NAD-dependent protein deacetylase sirtuin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043514 name: level of NAD-dependent deacetylase sirtuin-5 in blood serum def: "The amount of a NAD-dependent deacetylase sirtuin-5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NAD-dependent deacetylase sirtuin-5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043515 name: level of NAD-dependent protein deacylase sirtuin-6 in blood serum def: "The amount of a NAD-dependent protein deacylase sirtuin-6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NAD-dependent protein deacylase sirtuin-6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043516 name: level of signaling threshold-regulating transmembrane adapter 1 in blood serum def: "The amount of a signaling threshold-regulating transmembrane adapter 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum signaling threshold-regulating transmembrane adapter 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043517 name: level of homeobox protein SIX6 in blood serum def: "The amount of a homeobox protein SIX6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum homeobox protein SIX6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043518 name: level of spindle and kinetochore-associated protein 1 in blood serum def: "The amount of a spindle and kinetochore-associated protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum spindle and kinetochore-associated protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043519 name: level of ski-like protein in blood serum def: "The amount of a ski-like protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ski-like protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043520 name: level of S-phase kinase-associated protein 2 in blood serum def: "The amount of a S-phase kinase-associated protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum S-phase kinase-associated protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043521 name: level of SLAM family member 8 in blood serum def: "The amount of a SLAM family member 8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SLAM family member 8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043522 name: level of SLAM family member 9 in blood serum def: "The amount of a SLAM family member 9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SLAM family member 9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043523 name: level of histone RNA hairpin-binding protein in blood serum def: "The amount of a histone RNA hairpin-binding protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum histone RNA hairpin-binding protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043524 name: level of urea transporter 1 in blood serum def: "The amount of a urea transporter 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum urea transporter 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043525 name: level of urea transporter 2 in blood serum def: "The amount of a urea transporter 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum urea transporter 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043526 name: level of monocarboxylate transporter 4 in blood serum def: "The amount of a monocarboxylate transporter 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum monocarboxylate transporter 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043527 name: level of solute carrier family 22 member 16 in blood serum def: "The amount of a solute carrier family 22 member 16 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum solute carrier family 22 member 16 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043528 name: level of tricarboxylate transport protein, mitochondrial in blood serum def: "The amount of a tricarboxylate transport protein, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tricarboxylate transport protein, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043529 name: level of sodium-independent sulfate anion transporter in blood serum def: "The amount of a sodium-independent sulfate anion transporter when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sodium-independent sulfate anion transporter amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043530 name: level of prestin in blood serum def: "The amount of a prestin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum prestin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043531 name: level of anion exchange transporter in blood serum def: "The amount of a anion exchange transporter when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum anion exchange transporter amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043532 name: level of long-chain fatty acid transport protein 2 in blood serum def: "The amount of a long-chain fatty acid transport protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum long-chain fatty acid transport protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043533 name: level of probable proton-coupled zinc antiporter SLC30A3 in blood serum def: "The amount of a probable proton-coupled zinc antiporter SLC30A3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum probable proton-coupled zinc antiporter SLC30A3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043534 name: level of proton-coupled zinc antiporter SLC30A5 in blood serum def: "The amount of a proton-coupled zinc antiporter SLC30A5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum proton-coupled zinc antiporter SLC30A5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043535 name: level of neutral and basic amino acid transport protein rBAT in blood serum def: "The amount of a neutral and basic amino acid transport protein rBAT when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neutral and basic amino acid transport protein rBAT amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043536 name: level of solute carrier family 41 member 2 in blood serum def: "The amount of a solute carrier family 41 member 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum solute carrier family 41 member 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043537 name: level of electroneutral sodium bicarbonate exchanger 1 in blood serum def: "The amount of a electroneutral sodium bicarbonate exchanger 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum electroneutral sodium bicarbonate exchanger 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043538 name: level of sodium/iodide cotransporter in blood serum def: "The amount of a sodium/iodide cotransporter when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sodium/iodide cotransporter amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043539 name: level of sodium-coupled monocarboxylate transporter 1 in blood serum def: "The amount of a sodium-coupled monocarboxylate transporter 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sodium-coupled monocarboxylate transporter 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043540 name: level of sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) in blood serum def: "The amount of a sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043541 name: level of orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 in blood serum def: "The amount of a orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043542 name: level of sodium- and chloride-dependent glycine transporter 1 in blood serum def: "The amount of a sodium- and chloride-dependent glycine transporter 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sodium- and chloride-dependent glycine transporter 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043543 name: level of Schlafen-like protein 1 in blood serum def: "The amount of a Schlafen-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Schlafen-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043544 name: level of slit homolog 1 protein in blood serum def: "The amount of a slit homolog 1 protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum slit homolog 1 protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043545 name: level of slit homolog 2 protein in blood serum def: "The amount of a slit homolog 2 protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum slit homolog 2 protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043546 name: level of slit homolog 3 protein in blood serum def: "The amount of a slit homolog 3 protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum slit homolog 3 protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043547 name: level of SLIT and NTRK-like protein 2 in blood serum def: "The amount of a SLIT and NTRK-like protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SLIT and NTRK-like protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043548 name: level of SLIT and NTRK-like protein 3 in blood serum def: "The amount of a SLIT and NTRK-like protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SLIT and NTRK-like protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043549 name: level of SLIT and NTRK-like protein 4 in blood serum def: "The amount of a SLIT and NTRK-like protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SLIT and NTRK-like protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043550 name: level of SLIT and NTRK-like protein 6 in blood serum def: "The amount of a SLIT and NTRK-like protein 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SLIT and NTRK-like protein 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043551 name: level of SAFB-like transcription modulator in blood serum def: "The amount of a SAFB-like transcription modulator when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SAFB-like transcription modulator amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043552 name: level of stromal membrane-associated protein 1 in blood serum def: "The amount of a stromal membrane-associated protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum stromal membrane-associated protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043553 name: level of SWI/SNF complex subunit SMARCC1 in blood serum def: "The amount of a SWI/SNF complex subunit SMARCC1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SWI/SNF complex subunit SMARCC1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043554 name: level of structural maintenance of chromosomes protein 3 in blood serum def: "The amount of a structural maintenance of chromosomes protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum structural maintenance of chromosomes protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043555 name: level of serine/threonine-protein phosphatase 4 regulatory subunit 3A in blood serum def: "The amount of a serine/threonine-protein phosphatase 4 regulatory subunit 3A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine/threonine-protein phosphatase 4 regulatory subunit 3A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043556 name: level of survival of motor neuron-related-splicing factor 30 in blood serum def: "The amount of a survival of motor neuron-related-splicing factor 30 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum survival of motor neuron-related-splicing factor 30 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043557 name: level of SPARC-related modular calcium-binding protein 2 in blood serum def: "The amount of a SPARC-related modular calcium-binding protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SPARC-related modular calcium-binding protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043558 name: level of sphingomyelin phosphodiesterase in blood serum def: "The amount of a sphingomyelin phosphodiesterase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sphingomyelin phosphodiesterase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043559 name: level of submaxillary gland androgen-regulated protein 3A in blood serum def: "The amount of a submaxillary gland androgen-regulated protein 3A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum submaxillary gland androgen-regulated protein 3A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043560 name: level of spermine synthase in blood serum def: "The amount of a spermine synthase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum spermine synthase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043561 name: level of smoothelin in blood serum def: "The amount of a smoothelin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum smoothelin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043562 name: level of zinc finger protein SNAI2 in blood serum def: "The amount of a zinc finger protein SNAI2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger protein SNAI2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043563 name: level of synaptosomal-associated protein 23 in blood serum def: "The amount of a synaptosomal-associated protein 23 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum synaptosomal-associated protein 23 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043564 name: level of synaptosomal-associated protein 29 in blood serum def: "The amount of a synaptosomal-associated protein 29 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum synaptosomal-associated protein 29 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043565 name: level of SNARE-associated protein Snapin in blood serum def: "The amount of a SNARE-associated protein Snapin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SNARE-associated protein Snapin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043566 name: level of synphilin-1 in blood serum def: "The amount of a synphilin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum synphilin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043567 name: level of gamma-synuclein in blood serum def: "The amount of a gamma-synuclein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum gamma-synuclein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043568 name: level of staphylococcal nuclease domain-containing protein 1 in blood serum def: "The amount of a staphylococcal nuclease domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum staphylococcal nuclease domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043569 name: level of smad nuclear-interacting protein 1 in blood serum def: "The amount of a smad nuclear-interacting protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum smad nuclear-interacting protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043570 name: level of syntaphilin in blood serum def: "The amount of a syntaphilin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum syntaphilin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043571 name: level of U11/U12 small nuclear ribonucleoprotein 25 kDa protein in blood serum def: "The amount of a U11/U12 small nuclear ribonucleoprotein 25 kDa protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum U11/U12 small nuclear ribonucleoprotein 25 kDa protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043572 name: level of U1 small nuclear ribonucleoprotein A in blood serum def: "The amount of a U1 small nuclear ribonucleoprotein A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum U1 small nuclear ribonucleoprotein A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043573 name: level of U2 small nuclear ribonucleoprotein B'' in blood serum def: "The amount of a U2 small nuclear ribonucleoprotein B'' when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum U2 small nuclear ribonucleoprotein B'' amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043574 name: level of U1 small nuclear ribonucleoprotein C in blood serum def: "The amount of a U1 small nuclear ribonucleoprotein C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum U1 small nuclear ribonucleoprotein C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043575 name: level of small nuclear ribonucleoprotein Sm D2 in blood serum def: "The amount of a small nuclear ribonucleoprotein Sm D2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum small nuclear ribonucleoprotein Sm D2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043576 name: level of small nuclear ribonucleoprotein Sm D3 in blood serum def: "The amount of a small nuclear ribonucleoprotein Sm D3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum small nuclear ribonucleoprotein Sm D3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043577 name: level of small nuclear ribonucleoprotein E in blood serum def: "The amount of a small nuclear ribonucleoprotein E when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum small nuclear ribonucleoprotein E amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043578 name: level of small nuclear ribonucleoprotein G in blood serum def: "The amount of a small nuclear ribonucleoprotein G when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum small nuclear ribonucleoprotein G amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043579 name: level of alpha-1-syntrophin in blood serum def: "The amount of a alpha-1-syntrophin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-1-syntrophin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043580 name: level of beta-1-syntrophin in blood serum def: "The amount of a beta-1-syntrophin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-1-syntrophin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043581 name: level of snurportin-1 in blood serum def: "The amount of a snurportin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum snurportin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043582 name: level of sorting nexin-1 in blood serum def: "The amount of a sorting nexin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sorting nexin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043583 name: level of sorting nexin-11 in blood serum def: "The amount of a sorting nexin-11 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sorting nexin-11 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043584 name: level of sorting nexin-12 in blood serum def: "The amount of a sorting nexin-12 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sorting nexin-12 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043585 name: level of sorting nexin-15 in blood serum def: "The amount of a sorting nexin-15 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sorting nexin-15 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043586 name: level of sorting nexin-16 in blood serum def: "The amount of a sorting nexin-16 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sorting nexin-16 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043587 name: level of sorting nexin-17 in blood serum def: "The amount of a sorting nexin-17 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sorting nexin-17 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043588 name: level of sorting nexin-27 in blood serum def: "The amount of a sorting nexin-27 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sorting nexin-27 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043589 name: level of sorting nexin-3 in blood serum def: "The amount of a sorting nexin-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sorting nexin-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043590 name: level of sorting nexin-5 in blood serum def: "The amount of a sorting nexin-5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sorting nexin-5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043591 name: level of sorting nexin-8 in blood serum def: "The amount of a sorting nexin-8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sorting nexin-8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043592 name: level of suppressor of cytokine signaling 3 in blood serum def: "The amount of a suppressor of cytokine signaling 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum suppressor of cytokine signaling 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043593 name: level of suppressor of cytokine signaling 7 in blood serum def: "The amount of a suppressor of cytokine signaling 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum suppressor of cytokine signaling 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043594 name: level of superoxide dismutase [Cu-Zn] in blood serum def: "The amount of a superoxide dismutase [Cu-Zn] when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum superoxide dismutase [Cu-Zn] amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043595 name: level of superoxide dismutase [Mn], mitochondrial in blood serum def: "The amount of a superoxide dismutase [Mn], mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum superoxide dismutase [Mn], mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043596 name: level of extracellular superoxide dismutase [Cu-Zn] in blood serum def: "The amount of a extracellular superoxide dismutase [Cu-Zn] when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum extracellular superoxide dismutase [Cu-Zn] amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043597 name: level of vinexin in blood serum def: "The amount of a vinexin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum vinexin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043598 name: level of sorbitol dehydrogenase in blood serum def: "The amount of a sorbitol dehydrogenase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sorbitol dehydrogenase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043599 name: level of son of sevenless homolog 1 in blood serum def: "The amount of a son of sevenless homolog 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum son of sevenless homolog 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043600 name: level of sclerostin domain-containing protein 1 in blood serum def: "The amount of a sclerostin domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sclerostin domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043601 name: level of transcription factor SOX-10 in blood serum def: "The amount of a transcription factor SOX-10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription factor SOX-10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043602 name: level of transcription factor SOX-2 in blood serum def: "The amount of a transcription factor SOX-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription factor SOX-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043603 name: level of transcription factor SOX-6 in blood serum def: "The amount of a transcription factor SOX-6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription factor SOX-6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043604 name: level of transcription factor SOX-9 in blood serum def: "The amount of a transcription factor SOX-9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription factor SOX-9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043605 name: level of transcription factor Sp6 in blood serum def: "The amount of a transcription factor Sp6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription factor Sp6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043606 name: level of sperm surface protein Sp17 in blood serum def: "The amount of a sperm surface protein Sp17 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sperm surface protein Sp17 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043607 name: level of sperm acrosome membrane-associated protein 1 in blood serum def: "The amount of a sperm acrosome membrane-associated protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sperm acrosome membrane-associated protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043608 name: level of sperm acrosome membrane-associated protein 3 in blood serum def: "The amount of a sperm acrosome membrane-associated protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sperm acrosome membrane-associated protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043609 name: level of sperm acrosome-associated protein 5 in blood serum def: "The amount of a sperm acrosome-associated protein 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sperm acrosome-associated protein 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043610 name: level of sperm-associated antigen 11A in blood serum def: "The amount of a sperm-associated antigen 11A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sperm-associated antigen 11A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043611 name: level of sperm-associated antigen 11B in blood serum def: "The amount of a sperm-associated antigen 11B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sperm-associated antigen 11B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043612 name: level of SUN domain-containing protein 5 in blood serum def: "The amount of a SUN domain-containing protein 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SUN domain-containing protein 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043613 name: level of sperm-associated antigen 7 in blood serum def: "The amount of a sperm-associated antigen 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sperm-associated antigen 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043614 name: level of sperm protein associated with the nucleus on the X chromosome A in blood serum def: "The amount of a sperm protein associated with the nucleus on the X chromosome A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sperm protein associated with the nucleus on the X chromosome A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043615 name: level of sperm protein associated with the nucleus on the X chromosome N3 in blood serum def: "The amount of a sperm protein associated with the nucleus on the X chromosome N3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sperm protein associated with the nucleus on the X chromosome N3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043616 name: level of sperm protein associated with the nucleus on the X chromosome N4 in blood serum def: "The amount of a sperm protein associated with the nucleus on the X chromosome N4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sperm protein associated with the nucleus on the X chromosome N4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043617 name: level of spermatogenesis-associated protein 20 in blood serum def: "The amount of a spermatogenesis-associated protein 20 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum spermatogenesis-associated protein 20 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043618 name: level of spermatogenesis-associated protein 22 in blood serum def: "The amount of a spermatogenesis-associated protein 22 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum spermatogenesis-associated protein 22 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043619 name: level of ribosome biogenesis protein SPATA5 in blood serum def: "The amount of a ribosome biogenesis protein SPATA5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ribosome biogenesis protein SPATA5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043620 name: level of spermatogenesis-associated protein 9 in blood serum def: "The amount of a spermatogenesis-associated protein 9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum spermatogenesis-associated protein 9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043621 name: level of kinetochore protein Spc25 in blood serum def: "The amount of a kinetochore protein Spc25 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum kinetochore protein Spc25 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043622 name: level of signal peptidase complex subunit 1 in blood serum def: "The amount of a signal peptidase complex subunit 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum signal peptidase complex subunit 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043623 name: level of SAM pointed domain-containing Ets transcription factor in blood serum def: "The amount of a SAM pointed domain-containing Ets transcription factor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SAM pointed domain-containing Ets transcription factor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043624 name: level of sperm flagellar protein 1 in blood serum def: "The amount of a sperm flagellar protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sperm flagellar protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043625 name: level of spartin in blood serum def: "The amount of a spartin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum spartin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043626 name: level of maspardin in blood serum def: "The amount of a maspardin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum maspardin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043627 name: level of spindlin-1 in blood serum def: "The amount of a spindlin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum spindlin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043628 name: level of spindlin-3 in blood serum def: "The amount of a spindlin-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum spindlin-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043629 name: level of serine protease inhibitor Kazal-type 1 in blood serum def: "The amount of a serine protease inhibitor Kazal-type 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine protease inhibitor Kazal-type 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043630 name: level of serine protease inhibitor Kazal-type 2 in blood serum def: "The amount of a serine protease inhibitor Kazal-type 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine protease inhibitor Kazal-type 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043631 name: level of serine protease inhibitor Kazal-type 4 in blood serum def: "The amount of a serine protease inhibitor Kazal-type 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine protease inhibitor Kazal-type 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043632 name: level of serine protease inhibitor Kazal-type 5 in blood serum def: "The amount of a serine protease inhibitor Kazal-type 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine protease inhibitor Kazal-type 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043633 name: level of serine protease inhibitor Kazal-type 13 in blood serum def: "The amount of a serine protease inhibitor Kazal-type 13 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine protease inhibitor Kazal-type 13 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043634 name: level of serine protease inhibitor Kazal-type 6 in blood serum def: "The amount of a serine protease inhibitor Kazal-type 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine protease inhibitor Kazal-type 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043635 name: level of serine protease inhibitor Kazal-type 7 in blood serum def: "The amount of a serine protease inhibitor Kazal-type 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine protease inhibitor Kazal-type 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043636 name: level of serine protease inhibitor Kazal-type 8 in blood serum def: "The amount of a serine protease inhibitor Kazal-type 8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine protease inhibitor Kazal-type 8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043637 name: level of serine protease inhibitor Kazal-type 9 in blood serum def: "The amount of a serine protease inhibitor Kazal-type 9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine protease inhibitor Kazal-type 9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043638 name: level of Kunitz-type protease inhibitor 3 in blood serum def: "The amount of a Kunitz-type protease inhibitor 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Kunitz-type protease inhibitor 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043639 name: level of BPI fold-containing family A member 2 in blood serum def: "The amount of a BPI fold-containing family A member 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum BPI fold-containing family A member 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043640 name: level of testican-3 in blood serum def: "The amount of a testican-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum testican-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043641 name: level of spondin-2 in blood serum def: "The amount of a spondin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum spondin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043642 name: level of speckle-type POZ protein in blood serum def: "The amount of a speckle-type POZ protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum speckle-type POZ protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043643 name: level of sepiapterin reductase in blood serum def: "The amount of a sepiapterin reductase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sepiapterin reductase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043644 name: level of sprouty-related, EVH1 domain-containing protein 1 in blood serum def: "The amount of a sprouty-related, EVH1 domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sprouty-related, EVH1 domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043645 name: level of shadow of prion protein in blood serum def: "The amount of a shadow of prion protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum shadow of prion protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043646 name: level of SPRY domain-containing SOCS box protein 1 in blood serum def: "The amount of a SPRY domain-containing SOCS box protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SPRY domain-containing SOCS box protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043647 name: level of serine palmitoyltransferase 1 in blood serum def: "The amount of a serine palmitoyltransferase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine palmitoyltransferase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043648 name: level of serine palmitoyltransferase 2 in blood serum def: "The amount of a serine palmitoyltransferase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine palmitoyltransferase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043649 name: level of sequestosome-1 in blood serum def: "The amount of a sequestosome-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sequestosome-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043650 name: level of steroid receptor RNA activator 1 in blood serum def: "The amount of a steroid receptor RNA activator 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum steroid receptor RNA activator 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043651 name: level of serum response factor-binding protein 1 in blood serum def: "The amount of a serum response factor-binding protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serum response factor-binding protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043652 name: level of SLIT-ROBO Rho GTPase-activating protein 2 in blood serum def: "The amount of a SLIT-ROBO Rho GTPase-activating protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SLIT-ROBO Rho GTPase-activating protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043653 name: level of serglycin in blood serum def: "The amount of a serglycin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serglycin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043654 name: level of sorcin in blood serum def: "The amount of a sorcin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sorcin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043655 name: level of sarcalumenin in blood serum def: "The amount of a sarcalumenin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sarcalumenin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043656 name: level of spermidine synthase in blood serum def: "The amount of a spermidine synthase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum spermidine synthase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043657 name: level of signal recognition particle 14 kDa protein in blood serum def: "The amount of a signal recognition particle 14 kDa protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum signal recognition particle 14 kDa protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043658 name: level of signal recognition particle 19 kDa protein in blood serum def: "The amount of a signal recognition particle 19 kDa protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum signal recognition particle 19 kDa protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043659 name: level of SRSF protein kinase 2 in blood serum def: "The amount of a SRSF protein kinase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SRSF protein kinase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043660 name: level of serrate RNA effector molecule in blood serum def: "The amount of a serrate RNA effector molecule when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serrate RNA effector molecule amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043661 name: level of sulfiredoxin-1 in blood serum def: "The amount of a sulfiredoxin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sulfiredoxin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043662 name: level of sex-determining region Y protein in blood serum def: "The amount of a sex-determining region Y protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sex-determining region Y protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043663 name: level of single-stranded DNA-binding protein, mitochondrial in blood serum def: "The amount of a single-stranded DNA-binding protein, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum single-stranded DNA-binding protein, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043664 name: level of microtubule nucleation factor SSNA1 in blood serum def: "The amount of a microtubule nucleation factor SSNA1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum microtubule nucleation factor SSNA1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043665 name: level of sarcospan in blood serum def: "The amount of a sarcospan when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sarcospan amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043666 name: level of translocon-associated protein subunit alpha in blood serum def: "The amount of a translocon-associated protein subunit alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum translocon-associated protein subunit alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043667 name: level of translocon-associated protein subunit beta in blood serum def: "The amount of a translocon-associated protein subunit beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum translocon-associated protein subunit beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043668 name: level of RNA polymerase II subunit A C-terminal domain phosphatase SSU72 in blood serum def: "The amount of a RNA polymerase II subunit A C-terminal domain phosphatase SSU72 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RNA polymerase II subunit A C-terminal domain phosphatase SSU72 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043669 name: level of protein SSX4 in blood serum def: "The amount of a protein SSX4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein SSX4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043670 name: level of Hsc70-interacting protein in blood serum def: "The amount of a Hsc70-interacting protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Hsc70-interacting protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043671 name: level of lactosylceramide alpha-2,3-sialyltransferase in blood serum def: "The amount of a lactosylceramide alpha-2,3-sialyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lactosylceramide alpha-2,3-sialyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043672 name: level of type 2 lactosamine alpha-2,3-sialyltransferase in blood serum def: "The amount of a type 2 lactosamine alpha-2,3-sialyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum type 2 lactosamine alpha-2,3-sialyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043673 name: level of beta-galactoside alpha-2,6-sialyltransferase 1 in blood serum def: "The amount of a beta-galactoside alpha-2,6-sialyltransferase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-galactoside alpha-2,6-sialyltransferase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043674 name: level of beta-galactoside alpha-2,6-sialyltransferase 2 in blood serum def: "The amount of a beta-galactoside alpha-2,6-sialyltransferase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-galactoside alpha-2,6-sialyltransferase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043675 name: level of alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 in blood serum def: "The amount of a alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043676 name: level of alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 in blood serum def: "The amount of a alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043677 name: level of alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 in blood serum def: "The amount of a alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043678 name: level of alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase in blood serum def: "The amount of a alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043679 name: level of alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 in blood serum def: "The amount of a alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043680 name: level of alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 in blood serum def: "The amount of a alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043681 name: level of alpha-N-acetylneuraminide alpha-2,8-sialyltransferase in blood serum def: "The amount of a alpha-N-acetylneuraminide alpha-2,8-sialyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-N-acetylneuraminide alpha-2,8-sialyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043682 name: level of alpha-2,8-sialyltransferase 8B in blood serum def: "The amount of a alpha-2,8-sialyltransferase 8B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-2,8-sialyltransferase 8B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043683 name: level of sia-alpha-2,3-Gal-beta-1,4-GlcNAc-R:alpha 2,8-sialyltransferase in blood serum def: "The amount of a sia-alpha-2,3-Gal-beta-1,4-GlcNAc-R:alpha 2,8-sialyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sia-alpha-2,3-Gal-beta-1,4-GlcNAc-R:alpha 2,8-sialyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043684 name: level of CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase in blood serum def: "The amount of a CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043685 name: level of alpha-2,8-sialyltransferase 8F in blood serum def: "The amount of a alpha-2,8-sialyltransferase 8F when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-2,8-sialyltransferase 8F amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043686 name: level of stabilin-1 in blood serum def: "The amount of a stabilin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum stabilin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043687 name: level of SH3 and cysteine-rich domain-containing protein in blood serum def: "The amount of a SH3 and cysteine-rich domain-containing protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SH3 and cysteine-rich domain-containing protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043688 name: level of STAM-binding protein in blood serum def: "The amount of a STAM-binding protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum STAM-binding protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043689 name: level of AMSH-like protease in blood serum def: "The amount of a AMSH-like protease when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum AMSH-like protease amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043690 name: level of signal-transducing adaptor protein 1 in blood serum def: "The amount of a signal-transducing adaptor protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum signal-transducing adaptor protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043691 name: level of steroidogenic acute regulatory protein, mitochondrial in blood serum def: "The amount of a steroidogenic acute regulatory protein, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum steroidogenic acute regulatory protein, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043692 name: level of START domain-containing protein 10 in blood serum def: "The amount of a START domain-containing protein 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum START domain-containing protein 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043693 name: level of StAR-related lipid transfer protein 5 in blood serum def: "The amount of a StAR-related lipid transfer protein 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum StAR-related lipid transfer protein 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043694 name: level of StAR-related lipid transfer protein 7, mitochondrial in blood serum def: "The amount of a StAR-related lipid transfer protein 7, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum StAR-related lipid transfer protein 7, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043695 name: level of statherin in blood serum def: "The amount of a statherin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum statherin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043696 name: level of double-stranded RNA-binding protein Staufen homolog 1 in blood serum def: "The amount of a double-stranded RNA-binding protein Staufen homolog 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum double-stranded RNA-binding protein Staufen homolog 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043697 name: level of double-stranded RNA-binding protein Staufen homolog 2 in blood serum def: "The amount of a double-stranded RNA-binding protein Staufen homolog 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum double-stranded RNA-binding protein Staufen homolog 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043698 name: level of stanniocalcin-2 in blood serum def: "The amount of a stanniocalcin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum stanniocalcin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043699 name: level of serine/threonine-protein kinase 10 in blood serum def: "The amount of a serine/threonine-protein kinase 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine/threonine-protein kinase 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043700 name: level of serine/threonine-protein kinase 4 in blood serum def: "The amount of a serine/threonine-protein kinase 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine/threonine-protein kinase 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043701 name: level of stathmin in blood serum def: "The amount of a stathmin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum stathmin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043702 name: level of stathmin-2 in blood serum def: "The amount of a stathmin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum stathmin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043703 name: level of stathmin-3 in blood serum def: "The amount of a stathmin-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum stathmin-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043704 name: level of stathmin-4 in blood serum def: "The amount of a stathmin-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum stathmin-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043705 name: level of stomatin in blood serum def: "The amount of a stomatin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum stomatin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043706 name: level of stomatin-like protein 1 in blood serum def: "The amount of a stomatin-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum stomatin-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043707 name: level of stomatin-like protein 2 in blood serum def: "The amount of a stomatin-like protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum stomatin-like protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043708 name: level of syntaxin-10 in blood serum def: "The amount of a syntaxin-10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum syntaxin-10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043709 name: level of syntaxin-12 in blood serum def: "The amount of a syntaxin-12 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum syntaxin-12 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043710 name: level of syntaxin-17 in blood serum def: "The amount of a syntaxin-17 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum syntaxin-17 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043711 name: level of syntaxin-18 in blood serum def: "The amount of a syntaxin-18 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum syntaxin-18 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043712 name: level of syntaxin-1B in blood serum def: "The amount of a syntaxin-1B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum syntaxin-1B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043713 name: level of syntaxin-2 in blood serum def: "The amount of a syntaxin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum syntaxin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043714 name: level of syntaxin-3 in blood serum def: "The amount of a syntaxin-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum syntaxin-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043715 name: level of syntaxin-4 in blood serum def: "The amount of a syntaxin-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum syntaxin-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043716 name: level of syntaxin-6 in blood serum def: "The amount of a syntaxin-6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum syntaxin-6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043717 name: level of syntaxin-7 in blood serum def: "The amount of a syntaxin-7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum syntaxin-7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043718 name: level of syntaxin-8 in blood serum def: "The amount of a syntaxin-8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum syntaxin-8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043719 name: level of syntaxin-binding protein 4 in blood serum def: "The amount of a syntaxin-binding protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum syntaxin-binding protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043720 name: level of syntaxin-binding protein 6 in blood serum def: "The amount of a syntaxin-binding protein 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum syntaxin-binding protein 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043721 name: level of serine/threonine/tyrosine-interacting protein in blood serum def: "The amount of a serine/threonine/tyrosine-interacting protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine/threonine/tyrosine-interacting protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043722 name: level of activated RNA polymerase II transcriptional coactivator p15 in blood serum def: "The amount of a activated RNA polymerase II transcriptional coactivator p15 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum activated RNA polymerase II transcriptional coactivator p15 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043723 name: level of protein SGT1 in blood serum def: "The amount of a protein SGT1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein SGT1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043724 name: level of extracellular sulfatase Sulf-2 in blood serum def: "The amount of a extracellular sulfatase Sulf-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum extracellular sulfatase Sulf-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043725 name: level of sulfotransferase 1A1 in blood serum def: "The amount of a sulfotransferase 1A1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sulfotransferase 1A1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043726 name: level of sulfotransferase 1B1 in blood serum def: "The amount of a sulfotransferase 1B1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sulfotransferase 1B1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043727 name: level of sulfotransferase 1C2 in blood serum def: "The amount of a sulfotransferase 1C2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sulfotransferase 1C2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043728 name: level of sulfotransferase 1C4 in blood serum def: "The amount of a sulfotransferase 1C4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sulfotransferase 1C4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043729 name: level of sulfotransferase 2B1 in blood serum def: "The amount of a sulfotransferase 2B1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sulfotransferase 2B1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043730 name: level of sulfotransferase 4A1 in blood serum def: "The amount of a sulfotransferase 4A1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sulfotransferase 4A1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043731 name: level of sulfotransferase 6B1 in blood serum def: "The amount of a sulfotransferase 6B1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sulfotransferase 6B1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043732 name: level of formylglycine-generating enzyme in blood serum def: "The amount of a formylglycine-generating enzyme when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum formylglycine-generating enzyme amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043733 name: level of inactive C-alpha-formylglycine-generating enzyme 2 in blood serum def: "The amount of a inactive C-alpha-formylglycine-generating enzyme 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum inactive C-alpha-formylglycine-generating enzyme 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043734 name: level of small ubiquitin-related modifier 2 in blood serum def: "The amount of a small ubiquitin-related modifier 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum small ubiquitin-related modifier 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043735 name: level of small ubiquitin-related modifier 4 in blood serum def: "The amount of a small ubiquitin-related modifier 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum small ubiquitin-related modifier 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043736 name: level of sulfite oxidase, mitochondrial in blood serum def: "The amount of a sulfite oxidase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sulfite oxidase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043737 name: level of surfeit locus protein 1 in blood serum def: "The amount of a surfeit locus protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum surfeit locus protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043738 name: level of histone-lysine N-methyltransferase KMT5C in blood serum def: "The amount of a histone-lysine N-methyltransferase KMT5C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum histone-lysine N-methyltransferase KMT5C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043739 name: level of synaptic vesicle glycoprotein 2A in blood serum def: "The amount of a synaptic vesicle glycoprotein 2A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum synaptic vesicle glycoprotein 2A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043740 name: level of small VCP/p97-interacting protein in blood serum def: "The amount of a small VCP/p97-interacting protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum small VCP/p97-interacting protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043741 name: level of switch-associated protein 70 in blood serum def: "The amount of a switch-associated protein 70 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum switch-associated protein 70 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043742 name: level of synapse-associated protein 1 in blood serum def: "The amount of a synapse-associated protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum synapse-associated protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043743 name: level of pre-mRNA-splicing factor SYF2 in blood serum def: "The amount of a pre-mRNA-splicing factor SYF2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pre-mRNA-splicing factor SYF2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043744 name: level of synapsin-3 in blood serum def: "The amount of a synapsin-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum synapsin-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043745 name: level of nesprin-2 in blood serum def: "The amount of a nesprin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nesprin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043746 name: level of synaptogyrin-3 in blood serum def: "The amount of a synaptogyrin-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum synaptogyrin-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043747 name: level of synaptojanin-2-binding protein in blood serum def: "The amount of a synaptojanin-2-binding protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum synaptojanin-2-binding protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043748 name: level of synaptotagmin-1 in blood serum def: "The amount of a synaptotagmin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum synaptotagmin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043749 name: level of synaptotagmin-11 in blood serum def: "The amount of a synaptotagmin-11 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum synaptotagmin-11 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043750 name: level of synaptotagmin-12 in blood serum def: "The amount of a synaptotagmin-12 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum synaptotagmin-12 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043751 name: level of synaptotagmin-13 in blood serum def: "The amount of a synaptotagmin-13 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum synaptotagmin-13 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043752 name: level of synaptotagmin-17 in blood serum def: "The amount of a synaptotagmin-17 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum synaptotagmin-17 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043753 name: level of synaptotagmin-2 in blood serum def: "The amount of a synaptotagmin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum synaptotagmin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043754 name: level of synaptotagmin-4 in blood serum def: "The amount of a synaptotagmin-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum synaptotagmin-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043755 name: level of synaptotagmin-5 in blood serum def: "The amount of a synaptotagmin-5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum synaptotagmin-5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043756 name: level of synaptotagmin-6 in blood serum def: "The amount of a synaptotagmin-6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum synaptotagmin-6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043757 name: level of synaptotagmin-7 in blood serum def: "The amount of a synaptotagmin-7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum synaptotagmin-7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043758 name: level of synaptotagmin-8 in blood serum def: "The amount of a synaptotagmin-8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum synaptotagmin-8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043759 name: level of synaptotagmin-9 in blood serum def: "The amount of a synaptotagmin-9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum synaptotagmin-9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043760 name: level of synaptotagmin-like protein 1 in blood serum def: "The amount of a synaptotagmin-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum synaptotagmin-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043761 name: level of synaptotagmin-like protein 2 in blood serum def: "The amount of a synaptotagmin-like protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum synaptotagmin-like protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043762 name: level of small EDRK-rich factor 1 in blood serum def: "The amount of a small EDRK-rich factor 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum small EDRK-rich factor 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043763 name: level of protachykinin-1 in blood serum def: "The amount of a protachykinin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protachykinin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043764 name: level of tachykinin-4 in blood serum def: "The amount of a tachykinin-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tachykinin-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043765 name: level of transforming acidic coiled-coil-containing protein 3 in blood serum def: "The amount of a transforming acidic coiled-coil-containing protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transforming acidic coiled-coil-containing protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043766 name: level of transcriptional adapter 1-like protein in blood serum def: "The amount of a transcriptional adapter 1-like protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcriptional adapter 1-like protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043767 name: level of transcriptional adapter 2-alpha in blood serum def: "The amount of a transcriptional adapter 2-alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcriptional adapter 2-alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043768 name: level of transcriptional adapter 3 in blood serum def: "The amount of a transcriptional adapter 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcriptional adapter 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043769 name: level of transcription initiation factor TFIID subunit 10 in blood serum def: "The amount of a transcription initiation factor TFIID subunit 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription initiation factor TFIID subunit 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043770 name: level of transcription initiation factor TFIID subunit 12 in blood serum def: "The amount of a transcription initiation factor TFIID subunit 12 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription initiation factor TFIID subunit 12 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043771 name: level of TATA-binding protein-associated factor 2N in blood serum def: "The amount of a TATA-binding protein-associated factor 2N when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum TATA-binding protein-associated factor 2N amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043772 name: level of transgelin in blood serum def: "The amount of a transgelin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transgelin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043773 name: level of transgelin-3 in blood serum def: "The amount of a transgelin-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transgelin-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043774 name: level of transaldolase in blood serum def: "The amount of a transaldolase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transaldolase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043775 name: level of tapasin in blood serum def: "The amount of a tapasin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tapasin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043776 name: level of tapasin-related protein in blood serum def: "The amount of a tapasin-related protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tapasin-related protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043777 name: level of RISC-loading complex subunit TARBP2 in blood serum def: "The amount of a RISC-loading complex subunit TARBP2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RISC-loading complex subunit TARBP2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043778 name: level of TAR DNA-binding protein 43 in blood serum def: "The amount of a TAR DNA-binding protein 43 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum TAR DNA-binding protein 43 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043779 name: level of threonine--tRNA ligase 1, cytoplasmic in blood serum def: "The amount of a threonine--tRNA ligase 1, cytoplasmic when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum threonine--tRNA ligase 1, cytoplasmic amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043780 name: level of tyrosine aminotransferase in blood serum def: "The amount of a tyrosine aminotransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tyrosine aminotransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043781 name: level of Tax1-binding protein 1 in blood serum def: "The amount of a Tax1-binding protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Tax1-binding protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043782 name: level of Tax1-binding protein 3 in blood serum def: "The amount of a Tax1-binding protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Tax1-binding protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043783 name: level of TBC1 domain family member 13 in blood serum def: "The amount of a TBC1 domain family member 13 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum TBC1 domain family member 13 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043784 name: level of TBC1 domain family member 20 in blood serum def: "The amount of a TBC1 domain family member 20 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum TBC1 domain family member 20 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043785 name: level of TBC1 domain family member 22B in blood serum def: "The amount of a TBC1 domain family member 22B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum TBC1 domain family member 22B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043786 name: level of TBC1 domain family member 24 in blood serum def: "The amount of a TBC1 domain family member 24 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum TBC1 domain family member 24 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043787 name: level of TBC1 domain family member 25 in blood serum def: "The amount of a TBC1 domain family member 25 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum TBC1 domain family member 25 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043788 name: level of TBC1 domain family member 5 in blood serum def: "The amount of a TBC1 domain family member 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum TBC1 domain family member 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043789 name: level of tubulin-specific chaperone A in blood serum def: "The amount of a tubulin-specific chaperone A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tubulin-specific chaperone A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043790 name: level of tubulin-folding cofactor B in blood serum def: "The amount of a tubulin-folding cofactor B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tubulin-folding cofactor B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043791 name: level of tubulin-specific chaperone C in blood serum def: "The amount of a tubulin-specific chaperone C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tubulin-specific chaperone C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043792 name: level of tubulin-specific chaperone E in blood serum def: "The amount of a tubulin-specific chaperone E when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tubulin-specific chaperone E amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043793 name: level of tubulin-specific chaperone cofactor E-like protein in blood serum def: "The amount of a tubulin-specific chaperone cofactor E-like protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tubulin-specific chaperone cofactor E-like protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043794 name: level of transducin beta-like protein 2 in blood serum def: "The amount of a transducin beta-like protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transducin beta-like protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043795 name: level of TATA box-binding protein-like 1 in blood serum def: "The amount of a TATA box-binding protein-like 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum TATA box-binding protein-like 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043796 name: level of T-box transcription factor TBX22 in blood serum def: "The amount of a T-box transcription factor TBX22 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum T-box transcription factor TBX22 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043797 name: level of T-box transcription factor TBX3 in blood serum def: "The amount of a T-box transcription factor TBX3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum T-box transcription factor TBX3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043798 name: level of T-box transcription factor TBX5 in blood serum def: "The amount of a T-box transcription factor TBX5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum T-box transcription factor TBX5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043799 name: level of thromboxane-A synthase in blood serum def: "The amount of a thromboxane-A synthase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum thromboxane-A synthase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043800 name: level of telethonin in blood serum def: "The amount of a telethonin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum telethonin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043801 name: level of transcription elongation factor A protein 1 in blood serum def: "The amount of a transcription elongation factor A protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription elongation factor A protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043802 name: level of transcription elongation factor A protein 2 in blood serum def: "The amount of a transcription elongation factor A protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription elongation factor A protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043803 name: level of transcription elongation factor A protein 3 in blood serum def: "The amount of a transcription elongation factor A protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription elongation factor A protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043804 name: level of transcription elongation factor A protein-like 1 in blood serum def: "The amount of a transcription elongation factor A protein-like 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription elongation factor A protein-like 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043805 name: level of transcription elongation factor A protein-like 2 in blood serum def: "The amount of a transcription elongation factor A protein-like 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription elongation factor A protein-like 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043806 name: level of transcription elongation factor A protein-like 3 in blood serum def: "The amount of a transcription elongation factor A protein-like 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription elongation factor A protein-like 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043807 name: level of transcription elongation factor A protein-like 4 in blood serum def: "The amount of a transcription elongation factor A protein-like 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription elongation factor A protein-like 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043808 name: level of transcription elongation factor A protein-like 5 in blood serum def: "The amount of a transcription elongation factor A protein-like 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription elongation factor A protein-like 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043809 name: level of transcription elongation factor A protein-like 7 in blood serum def: "The amount of a transcription elongation factor A protein-like 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription elongation factor A protein-like 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043810 name: level of transcription elongation factor A protein-like 8 in blood serum def: "The amount of a transcription elongation factor A protein-like 8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription elongation factor A protein-like 8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043811 name: level of transcription factor 21 in blood serum def: "The amount of a transcription factor 21 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription factor 21 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043812 name: level of transcription factor 4 in blood serum def: "The amount of a transcription factor 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription factor 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043813 name: level of T-cell leukemia/lymphoma protein 1A in blood serum def: "The amount of a T-cell leukemia/lymphoma protein 1A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum T-cell leukemia/lymphoma protein 1A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043814 name: level of T-cell leukemia/lymphoma protein 1B in blood serum def: "The amount of a T-cell leukemia/lymphoma protein 1B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum T-cell leukemia/lymphoma protein 1B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043815 name: level of transcobalamin-1 in blood serum def: "The amount of a transcobalamin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcobalamin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043816 name: level of transcobalamin-2 in blood serum def: "The amount of a transcobalamin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcobalamin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043817 name: level of T-complex protein 11 in blood serum def: "The amount of a T-complex protein 11 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum T-complex protein 11 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043818 name: level of T-complex protein 11-like protein 1 in blood serum def: "The amount of a T-complex protein 11-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum T-complex protein 11-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043819 name: level of tectonic-2 in blood serum def: "The amount of a tectonic-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tectonic-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043820 name: level of tryptophan 2,3-dioxygenase in blood serum def: "The amount of a tryptophan 2,3-dioxygenase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tryptophan 2,3-dioxygenase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043821 name: level of tyrosyl-DNA phosphodiesterase 1 in blood serum def: "The amount of a tyrosyl-DNA phosphodiesterase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tyrosyl-DNA phosphodiesterase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043822 name: level of transcriptional enhancer factor TEF-5 in blood serum def: "The amount of a transcriptional enhancer factor TEF-5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcriptional enhancer factor TEF-5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043823 name: level of transcriptional enhancer factor TEF-3 in blood serum def: "The amount of a transcriptional enhancer factor TEF-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcriptional enhancer factor TEF-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043824 name: level of beta-tectorin in blood serum def: "The amount of a beta-tectorin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-tectorin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043825 name: level of thyrotroph embryonic factor in blood serum def: "The amount of a thyrotroph embryonic factor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum thyrotroph embryonic factor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043826 name: level of tensin-2 in blood serum def: "The amount of a tensin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tensin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043827 name: level of telomeric repeat-binding factor 1 in blood serum def: "The amount of a telomeric repeat-binding factor 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum telomeric repeat-binding factor 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043828 name: level of testin in blood serum def: "The amount of a testin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum testin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043829 name: level of calcineurin B homologous protein 3 in blood serum def: "The amount of a calcineurin B homologous protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calcineurin B homologous protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043830 name: level of transcription factor A, mitochondrial in blood serum def: "The amount of a transcription factor A, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription factor A, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043831 name: level of dimethyladenosine transferase 1, mitochondrial in blood serum def: "The amount of a dimethyladenosine transferase 1, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dimethyladenosine transferase 1, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043832 name: level of dimethyladenosine transferase 2, mitochondrial in blood serum def: "The amount of a dimethyladenosine transferase 2, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dimethyladenosine transferase 2, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043833 name: level of tissue factor pathway inhibitor 2 in blood serum def: "The amount of a tissue factor pathway inhibitor 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tissue factor pathway inhibitor 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043834 name: level of transferrin receptor protein 2 in blood serum def: "The amount of a transferrin receptor protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transferrin receptor protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043835 name: level of homeobox protein TGIF2 in blood serum def: "The amount of a homeobox protein TGIF2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum homeobox protein TGIF2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043836 name: level of homeobox protein TGIF2LX in blood serum def: "The amount of a homeobox protein TGIF2LX when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum homeobox protein TGIF2LX amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043837 name: level of homeobox protein TGIF2LY in blood serum def: "The amount of a homeobox protein TGIF2LY when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum homeobox protein TGIF2LY amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043838 name: level of protein-glutamine gamma-glutamyltransferase K in blood serum def: "The amount of a protein-glutamine gamma-glutamyltransferase K when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein-glutamine gamma-glutamyltransferase K amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043839 name: level of protein-glutamine gamma-glutamyltransferase 2 in blood serum def: "The amount of a protein-glutamine gamma-glutamyltransferase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein-glutamine gamma-glutamyltransferase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043840 name: level of protein-glutamine gamma-glutamyltransferase 4 in blood serum def: "The amount of a protein-glutamine gamma-glutamyltransferase 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein-glutamine gamma-glutamyltransferase 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043841 name: level of acyl-coenzyme A thioesterase THEM4 in blood serum def: "The amount of a acyl-coenzyme A thioesterase THEM4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum acyl-coenzyme A thioesterase THEM4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043842 name: level of THO complex subunit 1 in blood serum def: "The amount of a THO complex subunit 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum THO complex subunit 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043843 name: level of thimet oligopeptidase in blood serum def: "The amount of a thimet oligopeptidase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum thimet oligopeptidase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043844 name: level of thyroid hormone receptor beta in blood serum def: "The amount of a thyroid hormone receptor beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum thyroid hormone receptor beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043845 name: level of thiamine-triphosphatase in blood serum def: "The amount of a thiamine-triphosphatase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum thiamine-triphosphatase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043846 name: level of thymocyte nuclear protein 1 in blood serum def: "The amount of a thymocyte nuclear protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum thymocyte nuclear protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043847 name: level of nucleolysin TIAR in blood serum def: "The amount of a nucleolysin TIAR when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nucleolysin TIAR amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043848 name: level of Rho guanine nucleotide exchange factor TIAM1 in blood serum def: "The amount of a Rho guanine nucleotide exchange factor TIAM1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Rho guanine nucleotide exchange factor TIAM1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043849 name: level of Rho guanine nucleotide exchange factor TIAM2 in blood serum def: "The amount of a Rho guanine nucleotide exchange factor TIAM2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Rho guanine nucleotide exchange factor TIAM2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043850 name: level of T cell immunoreceptor with Ig and ITIM domains in blood serum def: "The amount of a T cell immunoreceptor with Ig and ITIM domains when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum T cell immunoreceptor with Ig and ITIM domains amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043851 name: level of protein timeless in blood serum def: "The amount of a protein timeless when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein timeless amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043852 name: level of mitochondrial import inner membrane translocase subunit Tim10 in blood serum def: "The amount of a mitochondrial import inner membrane translocase subunit Tim10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mitochondrial import inner membrane translocase subunit Tim10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043853 name: level of mitochondrial import inner membrane translocase subunit Tim13 in blood serum def: "The amount of a mitochondrial import inner membrane translocase subunit Tim13 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mitochondrial import inner membrane translocase subunit Tim13 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043854 name: level of mitochondrial import inner membrane translocase subunit Tim23 in blood serum def: "The amount of a mitochondrial import inner membrane translocase subunit Tim23 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mitochondrial import inner membrane translocase subunit Tim23 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043855 name: level of mitochondrial import inner membrane translocase subunit TIM50 in blood serum def: "The amount of a mitochondrial import inner membrane translocase subunit TIM50 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mitochondrial import inner membrane translocase subunit TIM50 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043856 name: level of metalloproteinase inhibitor 4 in blood serum def: "The amount of a metalloproteinase inhibitor 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum metalloproteinase inhibitor 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043857 name: level of tubulointerstitial nephritis antigen-like in blood serum def: "The amount of a tubulointerstitial nephritis antigen-like when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tubulointerstitial nephritis antigen-like amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043858 name: level of TERF1-interacting nuclear factor 2 in blood serum def: "The amount of a TERF1-interacting nuclear factor 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum TERF1-interacting nuclear factor 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043859 name: level of TIMELESS-interacting protein in blood serum def: "The amount of a TIMELESS-interacting protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum TIMELESS-interacting protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043860 name: level of TIP41-like protein in blood serum def: "The amount of a TIP41-like protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum TIP41-like protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043861 name: level of tight junction protein ZO-1 in blood serum def: "The amount of a tight junction protein ZO-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tight junction protein ZO-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043862 name: level of thymidine kinase 2, mitochondrial in blood serum def: "The amount of a thymidine kinase 2, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum thymidine kinase 2, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043863 name: level of serine/threonine-protein kinase tousled-like 1 in blood serum def: "The amount of a serine/threonine-protein kinase tousled-like 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine/threonine-protein kinase tousled-like 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043864 name: level of tolloid-like protein 1 in blood serum def: "The amount of a tolloid-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tolloid-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043865 name: level of talin-2 in blood serum def: "The amount of a talin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum talin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043866 name: level of TM2 domain-containing protein 1 in blood serum def: "The amount of a TM2 domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum TM2 domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043867 name: level of transmembrane emp24 domain-containing protein 10 in blood serum def: "The amount of a transmembrane emp24 domain-containing protein 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transmembrane emp24 domain-containing protein 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043868 name: level of transmembrane emp24 domain-containing protein 2 in blood serum def: "The amount of a transmembrane emp24 domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transmembrane emp24 domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043869 name: level of transmembrane emp24 domain-containing protein 4 in blood serum def: "The amount of a transmembrane emp24 domain-containing protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transmembrane emp24 domain-containing protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043870 name: level of tomoregulin-1 in blood serum def: "The amount of a tomoregulin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tomoregulin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043871 name: level of transmembrane protein 132A in blood serum def: "The amount of a transmembrane protein 132A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transmembrane protein 132A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043872 name: level of transmembrane protein 132D in blood serum def: "The amount of a transmembrane protein 132D when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transmembrane protein 132D amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043873 name: level of trimeric intracellular cation channel type B in blood serum def: "The amount of a trimeric intracellular cation channel type B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum trimeric intracellular cation channel type B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043874 name: level of macoilin in blood serum def: "The amount of a macoilin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum macoilin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043875 name: level of transmembrane protein 59-like in blood serum def: "The amount of a transmembrane protein 59-like when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transmembrane protein 59-like amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043876 name: level of transmembrane protein 70, mitochondrial in blood serum def: "The amount of a transmembrane protein 70, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transmembrane protein 70, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043877 name: level of tropomodulin-1 in blood serum def: "The amount of a tropomodulin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tropomodulin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043878 name: level of tropomodulin-2 in blood serum def: "The amount of a tropomodulin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tropomodulin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043879 name: level of tropomodulin-3 in blood serum def: "The amount of a tropomodulin-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tropomodulin-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043880 name: level of tropomodulin-4 in blood serum def: "The amount of a tropomodulin-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tropomodulin-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043881 name: level of transmembrane protease serine 11A in blood serum def: "The amount of a transmembrane protease serine 11A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transmembrane protease serine 11A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043882 name: level of transmembrane protease serine 11B in blood serum def: "The amount of a transmembrane protease serine 11B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transmembrane protease serine 11B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043883 name: level of transmembrane protease serine 11D in blood serum def: "The amount of a transmembrane protease serine 11D when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transmembrane protease serine 11D amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043884 name: level of transmembrane protease serine 5 in blood serum def: "The amount of a transmembrane protease serine 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transmembrane protease serine 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043885 name: level of transmembrane protease serine 6 in blood serum def: "The amount of a transmembrane protease serine 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transmembrane protease serine 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043886 name: level of transmembrane and ubiquitin-like domain-containing protein 1 in blood serum def: "The amount of a transmembrane and ubiquitin-like domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transmembrane and ubiquitin-like domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043887 name: level of BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 2 in blood serum def: "The amount of a BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043888 name: level of tumor necrosis factor alpha-induced protein 3 in blood serum def: "The amount of a tumor necrosis factor alpha-induced protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tumor necrosis factor alpha-induced protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043889 name: level of tumor necrosis factor alpha-induced protein 8 in blood serum def: "The amount of a tumor necrosis factor alpha-induced protein 8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tumor necrosis factor alpha-induced protein 8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043890 name: level of TNFAIP3-interacting protein 1 in blood serum def: "The amount of a TNFAIP3-interacting protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum TNFAIP3-interacting protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043891 name: level of poly [ADP-ribose] polymerase tankyrase-1 in blood serum def: "The amount of a poly [ADP-ribose] polymerase tankyrase-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum poly [ADP-ribose] polymerase tankyrase-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043892 name: level of tenomodulin in blood serum def: "The amount of a tenomodulin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tenomodulin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043893 name: level of troponin T, cardiac muscle in blood serum def: "The amount of a troponin T, cardiac muscle when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum troponin T, cardiac muscle amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043894 name: level of trinucleotide repeat-containing gene 6B protein in blood serum def: "The amount of a trinucleotide repeat-containing gene 6B protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum trinucleotide repeat-containing gene 6B protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043895 name: level of tensin-4 in blood serum def: "The amount of a tensin-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tensin-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043896 name: level of tenascin-X in blood serum def: "The amount of a tenascin-X when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tenascin-X amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043897 name: level of Toll-interacting protein in blood serum def: "The amount of a Toll-interacting protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Toll-interacting protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043898 name: level of target of Myb1 membrane trafficking protein in blood serum def: "The amount of a target of Myb1 membrane trafficking protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum target of Myb1 membrane trafficking protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043899 name: level of TOM1-like protein 1 in blood serum def: "The amount of a TOM1-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum TOM1-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043900 name: level of TOM1-like protein 2 in blood serum def: "The amount of a TOM1-like protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum TOM1-like protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043901 name: level of mitochondrial import receptor subunit TOM20 in blood serum def: "The amount of a mitochondrial import receptor subunit TOM20 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mitochondrial import receptor subunit TOM20 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043902 name: level of DNA topoisomerase 2-binding protein 1 in blood serum def: "The amount of a DNA topoisomerase 2-binding protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA topoisomerase 2-binding protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043903 name: level of torsin-1A-interacting protein 2 in blood serum def: "The amount of a torsin-1A-interacting protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum torsin-1A-interacting protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043904 name: level of tumor protein p53-inducible protein 11 in blood serum def: "The amount of a tumor protein p53-inducible protein 11 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tumor protein p53-inducible protein 11 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043905 name: level of tumor protein p53-inducible protein 13 in blood serum def: "The amount of a tumor protein p53-inducible protein 13 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tumor protein p53-inducible protein 13 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043906 name: level of tumor protein 63 in blood serum def: "The amount of a tumor protein 63 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tumor protein 63 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043907 name: level of tumor protein D53 in blood serum def: "The amount of a tumor protein D53 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tumor protein D53 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043908 name: level of tumor protein D54 in blood serum def: "The amount of a tumor protein D54 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tumor protein D54 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043909 name: level of tryptophan 5-hydroxylase 1 in blood serum def: "The amount of a tryptophan 5-hydroxylase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tryptophan 5-hydroxylase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043910 name: level of thiamin pyrophosphokinase 1 in blood serum def: "The amount of a thiamin pyrophosphokinase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum thiamin pyrophosphokinase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043911 name: level of tropomyosin alpha-3 chain in blood serum def: "The amount of a tropomyosin alpha-3 chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tropomyosin alpha-3 chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043912 name: level of thiopurine S-methyltransferase in blood serum def: "The amount of a thiopurine S-methyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum thiopurine S-methyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043913 name: level of tripeptidyl-peptidase 1 in blood serum def: "The amount of a tripeptidyl-peptidase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tripeptidyl-peptidase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043914 name: level of tripeptidyl-peptidase 2 in blood serum def: "The amount of a tripeptidyl-peptidase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tripeptidyl-peptidase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043915 name: level of tubulin polymerization-promoting protein in blood serum def: "The amount of a tubulin polymerization-promoting protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tubulin polymerization-promoting protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043916 name: level of EKC/KEOPS complex subunit TPRKB in blood serum def: "The amount of a EKC/KEOPS complex subunit TPRKB when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum EKC/KEOPS complex subunit TPRKB amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043917 name: level of protein-tyrosine sulfotransferase 1 in blood serum def: "The amount of a protein-tyrosine sulfotransferase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein-tyrosine sulfotransferase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043918 name: level of protein-tyrosine sulfotransferase 2 in blood serum def: "The amount of a protein-tyrosine sulfotransferase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein-tyrosine sulfotransferase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043919 name: level of trafficking protein particle complex subunit 3 in blood serum def: "The amount of a trafficking protein particle complex subunit 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum trafficking protein particle complex subunit 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043920 name: level of trafficking protein particle complex subunit 4 in blood serum def: "The amount of a trafficking protein particle complex subunit 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum trafficking protein particle complex subunit 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043921 name: level of trafficking protein particle complex subunit 5 in blood serum def: "The amount of a trafficking protein particle complex subunit 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum trafficking protein particle complex subunit 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043922 name: level of trafficking protein particle complex subunit 6A in blood serum def: "The amount of a trafficking protein particle complex subunit 6A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum trafficking protein particle complex subunit 6A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043923 name: level of trafficking protein particle complex subunit 6B in blood serum def: "The amount of a trafficking protein particle complex subunit 6B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum trafficking protein particle complex subunit 6B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043924 name: level of T-cell receptor-associated transmembrane adapter 1 in blood serum def: "The amount of a T-cell receptor-associated transmembrane adapter 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum T-cell receptor-associated transmembrane adapter 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043925 name: level of tRNA (cytosine-5-)-methyltransferase in blood serum def: "The amount of a tRNA (cytosine-5-)-methyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tRNA (cytosine-5-)-methyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043926 name: level of triggering receptor expressed on myeloid cells 1 in blood serum def: "The amount of a triggering receptor expressed on myeloid cells 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum triggering receptor expressed on myeloid cells 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043927 name: level of triggering receptor expressed on myeloid cells 2 in blood serum def: "The amount of a triggering receptor expressed on myeloid cells 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum triggering receptor expressed on myeloid cells 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043928 name: level of trem-like transcript 2 protein in blood serum def: "The amount of a trem-like transcript 2 protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum trem-like transcript 2 protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043929 name: level of three prime repair exonuclease 2 in blood serum def: "The amount of a three prime repair exonuclease 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum three prime repair exonuclease 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043930 name: level of pro-thyrotropin-releasing hormone in blood serum def: "The amount of a pro-thyrotropin-releasing hormone when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pro-thyrotropin-releasing hormone amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043931 name: level of TP53-regulated inhibitor of apoptosis 1 in blood serum def: "The amount of a TP53-regulated inhibitor of apoptosis 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum TP53-regulated inhibitor of apoptosis 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043932 name: level of tribbles homolog 2 in blood serum def: "The amount of a tribbles homolog 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tribbles homolog 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043933 name: level of E3 ubiquitin-protein ligase TRIM21 in blood serum def: "The amount of a E3 ubiquitin-protein ligase TRIM21 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 ubiquitin-protein ligase TRIM21 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043934 name: level of zinc finger protein RFP in blood serum def: "The amount of a zinc finger protein RFP when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger protein RFP amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043935 name: level of transcription intermediary factor 1-beta in blood serum def: "The amount of a transcription intermediary factor 1-beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription intermediary factor 1-beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043936 name: level of tripartite motif-containing protein 54 in blood serum def: "The amount of a tripartite motif-containing protein 54 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tripartite motif-containing protein 54 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043937 name: level of tripartite motif-containing protein 55 in blood serum def: "The amount of a tripartite motif-containing protein 55 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tripartite motif-containing protein 55 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043938 name: level of E3 ubiquitin-protein ligase TRIM9 in blood serum def: "The amount of a E3 ubiquitin-protein ligase TRIM9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 ubiquitin-protein ligase TRIM9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043939 name: level of triple functional domain protein in blood serum def: "The amount of a triple functional domain protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum triple functional domain protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043940 name: level of Cdc42-interacting protein 4 in blood serum def: "The amount of a Cdc42-interacting protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Cdc42-interacting protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043941 name: level of tRNA (adenine-N(1)-)-methyltransferase non-catalytic subunit TRM6 in blood serum def: "The amount of a tRNA (adenine-N(1)-)-methyltransferase non-catalytic subunit TRM6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tRNA (adenine-N(1)-)-methyltransferase non-catalytic subunit TRM6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043942 name: level of potential tRNA (adenine-N(1)-)-methyltransferase catalytic subunit TRMT61B in blood serum def: "The amount of a potential tRNA (adenine-N(1)-)-methyltransferase catalytic subunit TRMT61B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum potential tRNA (adenine-N(1)-)-methyltransferase catalytic subunit TRMT61B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043943 name: level of tRNA 2'-phosphotransferase 1 in blood serum def: "The amount of a tRNA 2'-phosphotransferase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tRNA 2'-phosphotransferase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043944 name: level of TSC22 domain family protein 3 in blood serum def: "The amount of a TSC22 domain family protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum TSC22 domain family protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043945 name: level of tRNA-splicing endonuclease subunit Sen15 in blood serum def: "The amount of a tRNA-splicing endonuclease subunit Sen15 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tRNA-splicing endonuclease subunit Sen15 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043946 name: level of tRNA-splicing endonuclease subunit Sen34 in blood serum def: "The amount of a tRNA-splicing endonuclease subunit Sen34 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tRNA-splicing endonuclease subunit Sen34 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043947 name: level of tumor susceptibility gene 101 protein in blood serum def: "The amount of a tumor susceptibility gene 101 protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tumor susceptibility gene 101 protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043948 name: level of centrosomal protein of 41 kDa in blood serum def: "The amount of a centrosomal protein of 41 kDa when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum centrosomal protein of 41 kDa amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043949 name: level of translin in blood serum def: "The amount of a translin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum translin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043950 name: level of protein TSPEAR in blood serum def: "The amount of a protein TSPEAR when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein TSPEAR amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043951 name: level of protein TSSC4 in blood serum def: "The amount of a protein TSSC4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein TSSC4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043952 name: level of testis-specific serine/threonine-protein kinase 1 in blood serum def: "The amount of a testis-specific serine/threonine-protein kinase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum testis-specific serine/threonine-protein kinase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043953 name: level of testis-specific serine/threonine-protein kinase 2 in blood serum def: "The amount of a testis-specific serine/threonine-protein kinase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum testis-specific serine/threonine-protein kinase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043954 name: level of thiosulfate sulfurtransferase in blood serum def: "The amount of a thiosulfate sulfurtransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum thiosulfate sulfurtransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043955 name: level of GDP-L-fucose synthetase in blood serum def: "The amount of a GDP-L-fucose synthetase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum GDP-L-fucose synthetase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043956 name: level of tubulin--tyrosine ligase in blood serum def: "The amount of a tubulin--tyrosine ligase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tubulin--tyrosine ligase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043957 name: level of tubulin--tyrosine ligase-like protein 12 in blood serum def: "The amount of a tubulin--tyrosine ligase-like protein 12 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tubulin--tyrosine ligase-like protein 12 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043958 name: level of titin in blood serum def: "The amount of a titin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum titin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043959 name: level of alpha-tocopherol transfer protein-like in blood serum def: "The amount of a alpha-tocopherol transfer protein-like when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-tocopherol transfer protein-like amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043960 name: level of tuftelin in blood serum def: "The amount of a tuftelin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tuftelin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043961 name: level of tubby-related protein 1 in blood serum def: "The amount of a tubby-related protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tubby-related protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043962 name: level of twinfilin-1 in blood serum def: "The amount of a twinfilin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum twinfilin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043963 name: level of twinfilin-2 in blood serum def: "The amount of a twinfilin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum twinfilin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043964 name: level of twisted gastrulation protein homolog 1 in blood serum def: "The amount of a twisted gastrulation protein homolog 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum twisted gastrulation protein homolog 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043965 name: level of thioredoxin in blood serum def: "The amount of a thioredoxin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum thioredoxin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043966 name: level of thioredoxin-related transmembrane protein 1 in blood serum def: "The amount of a thioredoxin-related transmembrane protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum thioredoxin-related transmembrane protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043967 name: level of protein disulfide-isomerase TXNDC10 in blood serum def: "The amount of a protein disulfide-isomerase TXNDC10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein disulfide-isomerase TXNDC10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043968 name: level of thioredoxin domain-containing protein 3 in blood serum def: "The amount of a thioredoxin domain-containing protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum thioredoxin domain-containing protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043969 name: level of thioredoxin domain-containing protein 5 in blood serum def: "The amount of a thioredoxin domain-containing protein 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum thioredoxin domain-containing protein 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043970 name: level of thioredoxin-interacting protein in blood serum def: "The amount of a thioredoxin-interacting protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum thioredoxin-interacting protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043971 name: level of thioredoxin-like protein 1 in blood serum def: "The amount of a thioredoxin-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum thioredoxin-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043972 name: level of thioredoxin-like protein 4A in blood serum def: "The amount of a thioredoxin-like protein 4A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum thioredoxin-like protein 4A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043973 name: level of thioredoxin-like protein 4B in blood serum def: "The amount of a thioredoxin-like protein 4B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum thioredoxin-like protein 4B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043974 name: level of thioredoxin reductase 1, cytoplasmic in blood serum def: "The amount of a thioredoxin reductase 1, cytoplasmic when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum thioredoxin reductase 1, cytoplasmic amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043975 name: level of thymidine phosphorylase in blood serum def: "The amount of a thymidine phosphorylase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum thymidine phosphorylase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043976 name: level of 5,6-dihydroxyindole-2-carboxylic acid oxidase in blood serum def: "The amount of a 5,6-dihydroxyindole-2-carboxylic acid oxidase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 5,6-dihydroxyindole-2-carboxylic acid oxidase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043977 name: level of tRNA wybutosine-synthesizing protein 3 in blood serum def: "The amount of a tRNA wybutosine-synthesizing protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tRNA wybutosine-synthesizing protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043978 name: level of splicing factor U2AF 65 kDa subunit in blood serum def: "The amount of a splicing factor U2AF 65 kDa subunit when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum splicing factor U2AF 65 kDa subunit amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043979 name: level of UDP-N-acetylhexosamine pyrophosphorylase in blood serum def: "The amount of a UDP-N-acetylhexosamine pyrophosphorylase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum UDP-N-acetylhexosamine pyrophosphorylase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043980 name: level of ubiquitin-like modifier-activating enzyme 1 in blood serum def: "The amount of a ubiquitin-like modifier-activating enzyme 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin-like modifier-activating enzyme 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043981 name: level of NEDD8-activating enzyme E1 catalytic subunit in blood serum def: "The amount of a NEDD8-activating enzyme E1 catalytic subunit when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NEDD8-activating enzyme E1 catalytic subunit amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043982 name: level of ubiquitin-like modifier-activating enzyme 5 in blood serum def: "The amount of a ubiquitin-like modifier-activating enzyme 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin-like modifier-activating enzyme 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043983 name: level of ubiquitin-like modifier-activating enzyme 6 in blood serum def: "The amount of a ubiquitin-like modifier-activating enzyme 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin-like modifier-activating enzyme 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043984 name: level of ubiquitin-like modifier-activating enzyme 7 in blood serum def: "The amount of a ubiquitin-like modifier-activating enzyme 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin-like modifier-activating enzyme 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043985 name: level of ubiquitin-associated domain-containing protein 1 in blood serum def: "The amount of a ubiquitin-associated domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin-associated domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043986 name: level of ubiquitin-associated and SH3 domain-containing protein A in blood serum def: "The amount of a ubiquitin-associated and SH3 domain-containing protein A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin-associated and SH3 domain-containing protein A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043987 name: level of ubiquitin-associated and SH3 domain-containing protein B in blood serum def: "The amount of a ubiquitin-associated and SH3 domain-containing protein B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin-associated and SH3 domain-containing protein B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043988 name: level of ubiquitin D in blood serum def: "The amount of a ubiquitin D when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin D amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043989 name: level of ubiquitin-conjugating enzyme E2 A in blood serum def: "The amount of a ubiquitin-conjugating enzyme E2 A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin-conjugating enzyme E2 A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043990 name: level of ubiquitin-conjugating enzyme E2 B in blood serum def: "The amount of a ubiquitin-conjugating enzyme E2 B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin-conjugating enzyme E2 B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043991 name: level of ubiquitin-conjugating enzyme E2 C in blood serum def: "The amount of a ubiquitin-conjugating enzyme E2 C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin-conjugating enzyme E2 C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043992 name: level of ubiquitin-conjugating enzyme E2 D2 in blood serum def: "The amount of a ubiquitin-conjugating enzyme E2 D2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin-conjugating enzyme E2 D2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043993 name: level of ubiquitin-conjugating enzyme E2 E1 in blood serum def: "The amount of a ubiquitin-conjugating enzyme E2 E1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin-conjugating enzyme E2 E1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043994 name: level of ubiquitin-conjugating enzyme E2 E3 in blood serum def: "The amount of a ubiquitin-conjugating enzyme E2 E3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin-conjugating enzyme E2 E3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043995 name: level of ubiquitin-conjugating enzyme E2 G1 in blood serum def: "The amount of a ubiquitin-conjugating enzyme E2 G1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin-conjugating enzyme E2 G1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043996 name: level of ubiquitin-conjugating enzyme E2 H in blood serum def: "The amount of a ubiquitin-conjugating enzyme E2 H when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin-conjugating enzyme E2 H amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043997 name: level of ubiquitin-conjugating enzyme E2 J1 in blood serum def: "The amount of a ubiquitin-conjugating enzyme E2 J1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin-conjugating enzyme E2 J1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043998 name: level of ubiquitin-conjugating enzyme E2 K in blood serum def: "The amount of a ubiquitin-conjugating enzyme E2 K when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin-conjugating enzyme E2 K amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2043999 name: level of NEDD8-conjugating enzyme Ubc12 in blood serum def: "The amount of a NEDD8-conjugating enzyme Ubc12 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NEDD8-conjugating enzyme Ubc12 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044000 name: level of ubiquitin-conjugating enzyme E2 Q1 in blood serum def: "The amount of a ubiquitin-conjugating enzyme E2 Q1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin-conjugating enzyme E2 Q1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044001 name: level of ubiquitin-conjugating enzyme E2 Q2 in blood serum def: "The amount of a ubiquitin-conjugating enzyme E2 Q2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin-conjugating enzyme E2 Q2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044002 name: level of ubiquitin-conjugating enzyme E2 R2 in blood serum def: "The amount of a ubiquitin-conjugating enzyme E2 R2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin-conjugating enzyme E2 R2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044003 name: level of ubiquitin-conjugating enzyme E2 S in blood serum def: "The amount of a ubiquitin-conjugating enzyme E2 S when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin-conjugating enzyme E2 S amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044004 name: level of ubiquitin-conjugating enzyme E2 T in blood serum def: "The amount of a ubiquitin-conjugating enzyme E2 T when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin-conjugating enzyme E2 T amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044005 name: level of ubiquitin-conjugating enzyme E2 variant 2 in blood serum def: "The amount of a ubiquitin-conjugating enzyme E2 variant 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin-conjugating enzyme E2 variant 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044006 name: level of ubiquitin-conjugating enzyme E2 Z in blood serum def: "The amount of a ubiquitin-conjugating enzyme E2 Z when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin-conjugating enzyme E2 Z amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044007 name: level of ubiquitin-protein ligase E3A in blood serum def: "The amount of a ubiquitin-protein ligase E3A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin-protein ligase E3A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044008 name: level of ubiquitin-like protein 3 in blood serum def: "The amount of a ubiquitin-like protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin-like protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044009 name: level of ubiquitin-like protein 4A in blood serum def: "The amount of a ubiquitin-like protein 4A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin-like protein 4A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044010 name: level of ubiquitin-like protein 7 in blood serum def: "The amount of a ubiquitin-like protein 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin-like protein 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044011 name: level of ubiquitin-like domain-containing CTD phosphatase 1 in blood serum def: "The amount of a ubiquitin-like domain-containing CTD phosphatase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin-like domain-containing CTD phosphatase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044012 name: level of ubiquilin-2 in blood serum def: "The amount of a ubiquilin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquilin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044013 name: level of ubiquilin-3 in blood serum def: "The amount of a ubiquilin-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquilin-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044014 name: level of ubiquilin-4 in blood serum def: "The amount of a ubiquilin-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquilin-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044015 name: level of UBX domain-containing protein 2B in blood serum def: "The amount of a UBX domain-containing protein 2B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum UBX domain-containing protein 2B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044016 name: level of ubiquitin carboxyl-terminal hydrolase isozyme L5 in blood serum def: "The amount of a ubiquitin carboxyl-terminal hydrolase isozyme L5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin carboxyl-terminal hydrolase isozyme L5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044017 name: level of uridine-cytidine kinase 2 in blood serum def: "The amount of a uridine-cytidine kinase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum uridine-cytidine kinase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044018 name: level of unique cartilage matrix-associated protein in blood serum def: "The amount of a unique cartilage matrix-associated protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum unique cartilage matrix-associated protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044019 name: level of urocortin-3 in blood serum def: "The amount of a urocortin-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum urocortin-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044020 name: level of ubiquitin recognition factor in ER-associated degradation protein 1 in blood serum def: "The amount of a ubiquitin recognition factor in ER-associated degradation protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin recognition factor in ER-associated degradation protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044021 name: level of UDP-glucose 6-dehydrogenase in blood serum def: "The amount of a UDP-glucose 6-dehydrogenase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum UDP-glucose 6-dehydrogenase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044022 name: level of UTP--glucose-1-phosphate uridylyltransferase in blood serum def: "The amount of a UTP--glucose-1-phosphate uridylyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum UTP--glucose-1-phosphate uridylyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044023 name: level of UDP-glucuronosyltransferase 1A1 in blood serum def: "The amount of a UDP-glucuronosyltransferase 1A1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum UDP-glucuronosyltransferase 1A1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044024 name: level of UDP-glucuronosyltransferase 1-6 in blood serum def: "The amount of a UDP-glucuronosyltransferase 1-6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum UDP-glucuronosyltransferase 1-6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044025 name: level of UDP-glucuronosyltransferase 1A8 in blood serum def: "The amount of a UDP-glucuronosyltransferase 1A8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum UDP-glucuronosyltransferase 1A8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044026 name: level of UDP-glucuronosyltransferase 2A1 in blood serum def: "The amount of a UDP-glucuronosyltransferase 2A1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum UDP-glucuronosyltransferase 2A1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044027 name: level of UDP-glucuronosyltransferase 2B15 in blood serum def: "The amount of a UDP-glucuronosyltransferase 2B15 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum UDP-glucuronosyltransferase 2B15 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044028 name: level of UL16-binding protein 1 in blood serum def: "The amount of a UL16-binding protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum UL16-binding protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044029 name: level of UL16-binding protein 2 in blood serum def: "The amount of a UL16-binding protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum UL16-binding protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044030 name: level of UL16-binding protein 3 in blood serum def: "The amount of a UL16-binding protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum UL16-binding protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044031 name: level of serine/threonine-protein kinase ULK3 in blood serum def: "The amount of a serine/threonine-protein kinase ULK3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine/threonine-protein kinase ULK3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044032 name: level of uromodulin-like 1 in blood serum def: "The amount of a uromodulin-like 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum uromodulin-like 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044033 name: level of protein unc-119 homolog B in blood serum def: "The amount of a protein unc-119 homolog B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein unc-119 homolog B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044034 name: level of protein unc-13 homolog A in blood serum def: "The amount of a protein unc-13 homolog A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein unc-13 homolog A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044035 name: level of protein unc-13 homolog D in blood serum def: "The amount of a protein unc-13 homolog D when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein unc-13 homolog D amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044036 name: level of protein unc-45 homolog A in blood serum def: "The amount of a protein unc-45 homolog A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein unc-45 homolog A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044037 name: level of netrin receptor UNC5A in blood serum def: "The amount of a netrin receptor UNC5A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum netrin receptor UNC5A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044038 name: level of netrin receptor UNC5B in blood serum def: "The amount of a netrin receptor UNC5B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum netrin receptor UNC5B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044039 name: level of protein unc-93 homolog B1 in blood serum def: "The amount of a protein unc-93 homolog B1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein unc-93 homolog B1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044040 name: level of uracil-DNA glycosylase in blood serum def: "The amount of a uracil-DNA glycosylase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum uracil-DNA glycosylase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044041 name: level of beta-ureidopropionase in blood serum def: "The amount of a beta-ureidopropionase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum beta-ureidopropionase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044042 name: level of uridine phosphorylase 1 in blood serum def: "The amount of a uridine phosphorylase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum uridine phosphorylase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044043 name: level of uridine phosphorylase 2 in blood serum def: "The amount of a uridine phosphorylase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum uridine phosphorylase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044044 name: level of uracil phosphoribosyltransferase in blood serum def: "The amount of a uracil phosphoribosyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum uracil phosphoribosyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044045 name: level of cytochrome b-c1 complex subunit 7 in blood serum def: "The amount of a cytochrome b-c1 complex subunit 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cytochrome b-c1 complex subunit 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044046 name: level of uroporphyrinogen decarboxylase in blood serum def: "The amount of a uroporphyrinogen decarboxylase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum uroporphyrinogen decarboxylase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044047 name: level of uroporphyrinogen-III synthase in blood serum def: "The amount of a uroporphyrinogen-III synthase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum uroporphyrinogen-III synthase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044048 name: level of upstream stimulatory factor 1 in blood serum def: "The amount of a upstream stimulatory factor 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum upstream stimulatory factor 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044049 name: level of upstream stimulatory factor 2 in blood serum def: "The amount of a upstream stimulatory factor 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum upstream stimulatory factor 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044050 name: level of harmonin in blood serum def: "The amount of a harmonin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum harmonin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044051 name: level of general vesicular transport factor p115 in blood serum def: "The amount of a general vesicular transport factor p115 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum general vesicular transport factor p115 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044052 name: level of ubiquitin carboxyl-terminal hydrolase 1 in blood serum def: "The amount of a ubiquitin carboxyl-terminal hydrolase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin carboxyl-terminal hydrolase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044053 name: level of ubiquitin carboxyl-terminal hydrolase 10 in blood serum def: "The amount of a ubiquitin carboxyl-terminal hydrolase 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin carboxyl-terminal hydrolase 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044054 name: level of ubiquitin carboxyl-terminal hydrolase 11 in blood serum def: "The amount of a ubiquitin carboxyl-terminal hydrolase 11 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin carboxyl-terminal hydrolase 11 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044055 name: level of ubiquitin carboxyl-terminal hydrolase 12 in blood serum def: "The amount of a ubiquitin carboxyl-terminal hydrolase 12 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin carboxyl-terminal hydrolase 12 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044056 name: level of ubiquitin carboxyl-terminal hydrolase 14 in blood serum def: "The amount of a ubiquitin carboxyl-terminal hydrolase 14 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin carboxyl-terminal hydrolase 14 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044057 name: level of ubiquitin carboxyl-terminal hydrolase 15 in blood serum def: "The amount of a ubiquitin carboxyl-terminal hydrolase 15 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin carboxyl-terminal hydrolase 15 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044058 name: level of ubiquitin carboxyl-terminal hydrolase 19 in blood serum def: "The amount of a ubiquitin carboxyl-terminal hydrolase 19 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin carboxyl-terminal hydrolase 19 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044059 name: level of ubiquitin carboxyl-terminal hydrolase 2 in blood serum def: "The amount of a ubiquitin carboxyl-terminal hydrolase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin carboxyl-terminal hydrolase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044060 name: level of ubiquitin carboxyl-terminal hydrolase 21 in blood serum def: "The amount of a ubiquitin carboxyl-terminal hydrolase 21 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin carboxyl-terminal hydrolase 21 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044061 name: level of ubiquitin carboxyl-terminal hydrolase 22 in blood serum def: "The amount of a ubiquitin carboxyl-terminal hydrolase 22 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin carboxyl-terminal hydrolase 22 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044062 name: level of ubiquitin carboxyl-terminal hydrolase 28 in blood serum def: "The amount of a ubiquitin carboxyl-terminal hydrolase 28 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin carboxyl-terminal hydrolase 28 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044063 name: level of ubiquitin carboxyl-terminal hydrolase 3 in blood serum def: "The amount of a ubiquitin carboxyl-terminal hydrolase 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin carboxyl-terminal hydrolase 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044064 name: level of ubiquitin carboxyl-terminal hydrolase 30 in blood serum def: "The amount of a ubiquitin carboxyl-terminal hydrolase 30 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin carboxyl-terminal hydrolase 30 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044065 name: level of ubiquitin carboxyl-terminal hydrolase 4 in blood serum def: "The amount of a ubiquitin carboxyl-terminal hydrolase 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin carboxyl-terminal hydrolase 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044066 name: level of ubiquitin carboxyl-terminal hydrolase 46 in blood serum def: "The amount of a ubiquitin carboxyl-terminal hydrolase 46 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin carboxyl-terminal hydrolase 46 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044067 name: level of ubiquitin carboxyl-terminal hydrolase 5 in blood serum def: "The amount of a ubiquitin carboxyl-terminal hydrolase 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin carboxyl-terminal hydrolase 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044068 name: level of ubiquitin carboxyl-terminal hydrolase 8 in blood serum def: "The amount of a ubiquitin carboxyl-terminal hydrolase 8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin carboxyl-terminal hydrolase 8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044069 name: level of uronyl 2-sulfotransferase in blood serum def: "The amount of a uronyl 2-sulfotransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum uronyl 2-sulfotransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044070 name: level of U3 small nucleolar RNA-associated protein 6 in blood serum def: "The amount of a U3 small nucleolar RNA-associated protein 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum U3 small nucleolar RNA-associated protein 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044071 name: level of urotensin-2 in blood serum def: "The amount of a urotensin-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum urotensin-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044072 name: level of urotensin-2B in blood serum def: "The amount of a urotensin-2B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum urotensin-2B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044073 name: level of UDP-glucuronic acid decarboxylase 1 in blood serum def: "The amount of a UDP-glucuronic acid decarboxylase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum UDP-glucuronic acid decarboxylase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044074 name: level of protein VAC14 in blood serum def: "The amount of a protein VAC14 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein VAC14 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044075 name: level of vesicle-associated membrane protein 1 in blood serum def: "The amount of a vesicle-associated membrane protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum vesicle-associated membrane protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044076 name: level of vesicle-associated membrane protein 2 in blood serum def: "The amount of a vesicle-associated membrane protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum vesicle-associated membrane protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044077 name: level of vesicle-associated membrane protein 4 in blood serum def: "The amount of a vesicle-associated membrane protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum vesicle-associated membrane protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044078 name: level of vesicle-associated membrane protein 7 in blood serum def: "The amount of a vesicle-associated membrane protein 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum vesicle-associated membrane protein 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044079 name: level of vesicle-associated membrane protein 8 in blood serum def: "The amount of a vesicle-associated membrane protein 8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum vesicle-associated membrane protein 8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044080 name: level of Vang-like protein 1 in blood serum def: "The amount of a Vang-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Vang-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044081 name: level of valine--tRNA ligase in blood serum def: "The amount of a valine--tRNA ligase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum valine--tRNA ligase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044082 name: level of vasorin in blood serum def: "The amount of a vasorin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum vasorin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044083 name: level of vasodilator-stimulated phosphoprotein in blood serum def: "The amount of a vasodilator-stimulated phosphoprotein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum vasodilator-stimulated phosphoprotein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044084 name: level of synaptic vesicle membrane protein VAT-1 in blood serum def: "The amount of a synaptic vesicle membrane protein VAT-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum synaptic vesicle membrane protein VAT-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044085 name: level of synaptic vesicle membrane protein VAT-1-like in blood serum def: "The amount of a synaptic vesicle membrane protein VAT-1-like when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum synaptic vesicle membrane protein VAT-1-like amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044086 name: level of guanine nucleotide exchange factor VAV3 in blood serum def: "The amount of a guanine nucleotide exchange factor VAV3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum guanine nucleotide exchange factor VAV3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044087 name: level of prefoldin subunit 3 in blood serum def: "The amount of a prefoldin subunit 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum prefoldin subunit 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044088 name: level of versican core protein in blood serum def: "The amount of a versican core protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum versican core protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044089 name: level of vinculin in blood serum def: "The amount of a vinculin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum vinculin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044090 name: level of transitional endoplasmic reticulum ATPase in blood serum def: "The amount of a transitional endoplasmic reticulum ATPase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transitional endoplasmic reticulum ATPase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044091 name: level of deubiquitinating protein VCPIP1 in blood serum def: "The amount of a deubiquitinating protein VCPIP1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum deubiquitinating protein VCPIP1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044092 name: level of variable charge X-linked protein 1 in blood serum def: "The amount of a variable charge X-linked protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum variable charge X-linked protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044093 name: level of variable charge X-linked protein 3 in blood serum def: "The amount of a variable charge X-linked protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum variable charge X-linked protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044094 name: level of vitamin D3 receptor in blood serum def: "The amount of a vitamin D3 receptor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum vitamin D3 receptor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044095 name: level of vascular endothelial growth factor A in blood serum def: "The amount of a vascular endothelial growth factor A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum vascular endothelial growth factor A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount relationship: characteristic_of PR:000017284 ! vascular endothelial growth factor A [Term] id: OBA:2044096 name: level of transcription cofactor vestigial-like protein 4 in blood serum def: "The amount of a transcription cofactor vestigial-like protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription cofactor vestigial-like protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044097 name: level of von Hippel-Lindau disease tumor suppressor in blood serum def: "The amount of a von Hippel-Lindau disease tumor suppressor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum von Hippel-Lindau disease tumor suppressor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044098 name: level of von Hippel-Lindau-like protein in blood serum def: "The amount of a von Hippel-Lindau-like protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum von Hippel-Lindau-like protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044099 name: level of villin-1 in blood serum def: "The amount of a villin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum villin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044100 name: level of villin-like protein in blood serum def: "The amount of a villin-like protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum villin-like protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044101 name: level of vimentin in blood serum def: "The amount of a vimentin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum vimentin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044102 name: level of vitrin in blood serum def: "The amount of a vitrin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum vitrin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044103 name: level of very low-density lipoprotein receptor in blood serum def: "The amount of a very low-density lipoprotein receptor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum very low-density lipoprotein receptor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044104 name: level of vimentin-type intermediate filament-associated coiled-coil protein in blood serum def: "The amount of a vimentin-type intermediate filament-associated coiled-coil protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum vimentin-type intermediate filament-associated coiled-coil protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044105 name: level of pantetheine hydrolase VNN2 in blood serum def: "The amount of a pantetheine hydrolase VNN2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pantetheine hydrolase VNN2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044106 name: level of charged multivesicular body protein 3 in blood serum def: "The amount of a charged multivesicular body protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum charged multivesicular body protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044107 name: level of vacuolar protein-sorting-associated protein 25 in blood serum def: "The amount of a vacuolar protein-sorting-associated protein 25 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum vacuolar protein-sorting-associated protein 25 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044108 name: level of vacuolar protein sorting-associated protein 26A in blood serum def: "The amount of a vacuolar protein sorting-associated protein 26A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum vacuolar protein sorting-associated protein 26A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044109 name: level of vacuolar protein sorting-associated protein 26B in blood serum def: "The amount of a vacuolar protein sorting-associated protein 26B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum vacuolar protein sorting-associated protein 26B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044110 name: level of vacuolar protein sorting-associated protein 29 in blood serum def: "The amount of a vacuolar protein sorting-associated protein 29 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum vacuolar protein sorting-associated protein 29 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044111 name: level of vacuolar protein sorting-associated protein 4A in blood serum def: "The amount of a vacuolar protein sorting-associated protein 4A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum vacuolar protein sorting-associated protein 4A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044112 name: level of vacuolar protein sorting-associated protein 4B in blood serum def: "The amount of a vacuolar protein sorting-associated protein 4B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum vacuolar protein sorting-associated protein 4B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044113 name: level of vacuolar protein sorting-associated protein 53 in blood serum def: "The amount of a vacuolar protein sorting-associated protein 53 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum vacuolar protein sorting-associated protein 53 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044114 name: level of serine/threonine-protein kinase VRK1 in blood serum def: "The amount of a serine/threonine-protein kinase VRK1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine/threonine-protein kinase VRK1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044115 name: level of V-set and immunoglobulin domain-containing protein 4 in blood serum def: "The amount of a V-set and immunoglobulin domain-containing protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum V-set and immunoglobulin domain-containing protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044116 name: level of visinin-like protein 1 in blood serum def: "The amount of a visinin-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum visinin-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044117 name: level of visual system homeobox 1 in blood serum def: "The amount of a visual system homeobox 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum visual system homeobox 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044118 name: level of vesicle transport through interaction with t-SNAREs homolog 1A in blood serum def: "The amount of a vesicle transport through interaction with t-SNAREs homolog 1A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum vesicle transport through interaction with t-SNAREs homolog 1A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044119 name: level of vesicle transport through interaction with t-SNAREs homolog 1B in blood serum def: "The amount of a vesicle transport through interaction with t-SNAREs homolog 1B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum vesicle transport through interaction with t-SNAREs homolog 1B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044120 name: level of von Willebrand factor A domain-containing protein 1 in blood serum def: "The amount of a von Willebrand factor A domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum von Willebrand factor A domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044121 name: level of brorin in blood serum def: "The amount of a brorin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum brorin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044122 name: level of tryptophan--tRNA ligase, cytoplasmic in blood serum def: "The amount of a tryptophan--tRNA ligase, cytoplasmic when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tryptophan--tRNA ligase, cytoplasmic amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044123 name: level of tryptophan--tRNA ligase, mitochondrial in blood serum def: "The amount of a tryptophan--tRNA ligase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tryptophan--tRNA ligase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044124 name: level of actin nucleation-promoting factor WAS in blood serum def: "The amount of a actin nucleation-promoting factor WAS when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum actin nucleation-promoting factor WAS amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044125 name: level of actin nucleation-promoting factor WASL in blood serum def: "The amount of a actin nucleation-promoting factor WASL when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum actin nucleation-promoting factor WASL amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044126 name: level of WD repeat-containing protein 26 in blood serum def: "The amount of a WD repeat-containing protein 26 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum WD repeat-containing protein 26 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044127 name: level of WD repeat-containing protein 48 in blood serum def: "The amount of a WD repeat-containing protein 48 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum WD repeat-containing protein 48 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044128 name: level of WD repeat-containing protein 5 in blood serum def: "The amount of a WD repeat-containing protein 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum WD repeat-containing protein 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044129 name: level of Wee1-like protein kinase 2 in blood serum def: "The amount of a Wee1-like protein kinase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Wee1-like protein kinase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044130 name: level of WAP four-disulfide core domain protein 1 in blood serum def: "The amount of a WAP four-disulfide core domain protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum WAP four-disulfide core domain protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044131 name: level of protein WFDC10B in blood serum def: "The amount of a protein WFDC10B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein WFDC10B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044132 name: level of protein WFDC11 in blood serum def: "The amount of a protein WFDC11 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein WFDC11 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044133 name: level of protein WFDC13 in blood serum def: "The amount of a protein WFDC13 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein WFDC13 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044134 name: level of WAP four-disulfide core domain protein 5 in blood serum def: "The amount of a WAP four-disulfide core domain protein 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum WAP four-disulfide core domain protein 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044135 name: level of negative elongation factor A in blood serum def: "The amount of a negative elongation factor A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum negative elongation factor A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044136 name: level of CCN family member 5 in blood serum def: "The amount of a CCN family member 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CCN family member 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044137 name: level of serine/threonine-protein kinase WNK1 in blood serum def: "The amount of a serine/threonine-protein kinase WNK1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine/threonine-protein kinase WNK1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044138 name: level of protein Wnt-10b in blood serum def: "The amount of a protein Wnt-10b when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein Wnt-10b amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044139 name: level of protein Wnt-11 in blood serum def: "The amount of a protein Wnt-11 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein Wnt-11 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044140 name: level of protein Wnt-16 in blood serum def: "The amount of a protein Wnt-16 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein Wnt-16 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044141 name: level of protein Wnt-5a in blood serum def: "The amount of a protein Wnt-5a when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein Wnt-5a amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044142 name: level of protein Wnt-5b in blood serum def: "The amount of a protein Wnt-5b when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein Wnt-5b amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044143 name: level of ATPase WRNIP1 in blood serum def: "The amount of a ATPase WRNIP1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ATPase WRNIP1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044144 name: level of pre-mRNA-splicing regulator WTAP in blood serum def: "The amount of a pre-mRNA-splicing regulator WTAP when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pre-mRNA-splicing regulator WTAP amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044145 name: level of protein WWC1 in blood serum def: "The amount of a protein WWC1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein WWC1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044146 name: level of NEDD4-like E3 ubiquitin-protein ligase WWP2 in blood serum def: "The amount of a NEDD4-like E3 ubiquitin-protein ligase WWP2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NEDD4-like E3 ubiquitin-protein ligase WWP2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044147 name: level of X antigen family member 2 in blood serum def: "The amount of a X antigen family member 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum X antigen family member 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044148 name: level of X-box-binding protein 1 in blood serum def: "The amount of a X-box-binding protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum X-box-binding protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044149 name: level of xanthine dehydrogenase/oxidase in blood serum def: "The amount of a xanthine dehydrogenase/oxidase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum xanthine dehydrogenase/oxidase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044150 name: level of glycoprotein Xg in blood serum def: "The amount of a glycoprotein Xg when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glycoprotein Xg amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044151 name: level of exportin-5 in blood serum def: "The amount of a exportin-5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum exportin-5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044152 name: level of DNA repair protein XRCC1 in blood serum def: "The amount of a DNA repair protein XRCC1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA repair protein XRCC1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044153 name: level of DNA repair protein XRCC4 in blood serum def: "The amount of a DNA repair protein XRCC4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA repair protein XRCC4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044154 name: level of mitochondrial inner membrane protease ATP23 in blood serum def: "The amount of a mitochondrial inner membrane protease ATP23 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mitochondrial inner membrane protease ATP23 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044155 name: level of xylulose kinase in blood serum def: "The amount of a xylulose kinase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum xylulose kinase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044156 name: level of xylosyltransferase 2 in blood serum def: "The amount of a xylosyltransferase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum xylosyltransferase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044157 name: level of transcriptional coactivator YAP1 in blood serum def: "The amount of a transcriptional coactivator YAP1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcriptional coactivator YAP1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044158 name: level of tyrosine--tRNA ligase, mitochondrial in blood serum def: "The amount of a tyrosine--tRNA ligase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tyrosine--tRNA ligase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044159 name: level of Y-box-binding protein 1 in blood serum def: "The amount of a Y-box-binding protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Y-box-binding protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044160 name: level of Y-box-binding protein 2 in blood serum def: "The amount of a Y-box-binding protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Y-box-binding protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044161 name: level of YEATS domain-containing protein 4 in blood serum def: "The amount of a YEATS domain-containing protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum YEATS domain-containing protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044162 name: level of protein YIPF6 in blood serum def: "The amount of a protein YIPF6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein YIPF6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044163 name: level of YjeF N-terminal domain-containing protein 3 in blood serum def: "The amount of a YjeF N-terminal domain-containing protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum YjeF N-terminal domain-containing protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044164 name: level of ATP-dependent zinc metalloprotease YME1L1 in blood serum def: "The amount of a ATP-dependent zinc metalloprotease YME1L1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ATP-dependent zinc metalloprotease YME1L1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044165 name: level of YTH domain-containing protein 1 in blood serum def: "The amount of a YTH domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum YTH domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044166 name: level of 14-3-3 protein gamma in blood serum def: "The amount of a 14-3-3 protein gamma when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 14-3-3 protein gamma amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044167 name: level of 14-3-3 protein eta in blood serum def: "The amount of a 14-3-3 protein eta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 14-3-3 protein eta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044168 name: level of transcriptional repressor protein YY1 in blood serum def: "The amount of a transcriptional repressor protein YY1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcriptional repressor protein YY1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044169 name: level of transcription factor YY2 in blood serum def: "The amount of a transcription factor YY2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription factor YY2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044170 name: level of Z-DNA-binding protein 1 in blood serum def: "The amount of a Z-DNA-binding protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Z-DNA-binding protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044171 name: level of zinc finger and BTB domain-containing protein 10 in blood serum def: "The amount of a zinc finger and BTB domain-containing protein 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger and BTB domain-containing protein 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044172 name: level of zinc finger and BTB domain-containing protein 16 in blood serum def: "The amount of a zinc finger and BTB domain-containing protein 16 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger and BTB domain-containing protein 16 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044173 name: level of transcriptional regulator Kaiso in blood serum def: "The amount of a transcriptional regulator Kaiso when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcriptional regulator Kaiso amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044174 name: level of zinc finger and BTB domain-containing protein 7A in blood serum def: "The amount of a zinc finger and BTB domain-containing protein 7A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger and BTB domain-containing protein 7A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044175 name: level of endoribonuclease ZC3H12A in blood serum def: "The amount of a endoribonuclease ZC3H12A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum endoribonuclease ZC3H12A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044176 name: level of zinc finger CCHC domain-containing protein 17 in blood serum def: "The amount of a zinc finger CCHC domain-containing protein 17 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger CCHC domain-containing protein 17 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044177 name: level of AN1-type zinc finger protein 1 in blood serum def: "The amount of a AN1-type zinc finger protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum AN1-type zinc finger protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044178 name: level of AN1-type zinc finger protein 2B in blood serum def: "The amount of a AN1-type zinc finger protein 2B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum AN1-type zinc finger protein 2B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044179 name: level of AN1-type zinc finger protein 3 in blood serum def: "The amount of a AN1-type zinc finger protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum AN1-type zinc finger protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044180 name: level of AN1-type zinc finger protein 5 in blood serum def: "The amount of a AN1-type zinc finger protein 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum AN1-type zinc finger protein 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044181 name: level of mRNA decay activator protein ZFP36 in blood serum def: "The amount of a mRNA decay activator protein ZFP36 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mRNA decay activator protein ZFP36 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044182 name: level of E3 ubiquitin-protein ligase ZFP91 in blood serum def: "The amount of a E3 ubiquitin-protein ligase ZFP91 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 ubiquitin-protein ligase ZFP91 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044183 name: level of zymogen granule membrane protein 16 in blood serum def: "The amount of a zymogen granule membrane protein 16 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zymogen granule membrane protein 16 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044184 name: level of zinc fingers and homeoboxes protein 1 in blood serum def: "The amount of a zinc fingers and homeoboxes protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc fingers and homeoboxes protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044185 name: level of zinc fingers and homeoboxes protein 2 in blood serum def: "The amount of a zinc fingers and homeoboxes protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc fingers and homeoboxes protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044186 name: level of zinc fingers and homeoboxes protein 3 in blood serum def: "The amount of a zinc fingers and homeoboxes protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc fingers and homeoboxes protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044187 name: level of zinc finger protein 10 in blood serum def: "The amount of a zinc finger protein 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger protein 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044188 name: level of zinc finger protein 134 in blood serum def: "The amount of a zinc finger protein 134 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger protein 134 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044189 name: level of zinc finger protein with KRAB and SCAN domains 7 in blood serum def: "The amount of a zinc finger protein with KRAB and SCAN domains 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger protein with KRAB and SCAN domains 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044190 name: level of zinc finger protein 174 in blood serum def: "The amount of a zinc finger protein 174 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger protein 174 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044191 name: level of zinc finger protein 175 in blood serum def: "The amount of a zinc finger protein 175 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger protein 175 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044192 name: level of zinc finger protein 18 in blood serum def: "The amount of a zinc finger protein 18 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger protein 18 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044193 name: level of zinc finger protein 180 in blood serum def: "The amount of a zinc finger protein 180 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger protein 180 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044194 name: level of zinc finger protein 23 in blood serum def: "The amount of a zinc finger protein 23 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger protein 23 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044195 name: level of zinc finger protein 230 in blood serum def: "The amount of a zinc finger protein 230 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger protein 230 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044196 name: level of zinc finger protein 263 in blood serum def: "The amount of a zinc finger protein 263 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger protein 263 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044197 name: level of zinc finger protein 264 in blood serum def: "The amount of a zinc finger protein 264 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger protein 264 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044198 name: level of zinc finger protein 275 in blood serum def: "The amount of a zinc finger protein 275 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger protein 275 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044199 name: level of zinc finger protein 276 in blood serum def: "The amount of a zinc finger protein 276 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger protein 276 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044200 name: level of zinc finger protein 329 in blood serum def: "The amount of a zinc finger protein 329 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger protein 329 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044201 name: level of zinc finger protein 334 in blood serum def: "The amount of a zinc finger protein 334 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger protein 334 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044202 name: level of zinc finger protein 34 in blood serum def: "The amount of a zinc finger protein 34 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger protein 34 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044203 name: level of zinc finger protein 382 in blood serum def: "The amount of a zinc finger protein 382 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger protein 382 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044204 name: level of zinc finger protein 41 in blood serum def: "The amount of a zinc finger protein 41 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger protein 41 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044205 name: level of zinc finger protein 410 in blood serum def: "The amount of a zinc finger protein 410 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger protein 410 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044206 name: level of zinc finger protein 415 in blood serum def: "The amount of a zinc finger protein 415 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger protein 415 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044207 name: level of zinc finger protein 526 in blood serum def: "The amount of a zinc finger protein 526 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger protein 526 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044208 name: level of zinc finger protein 560 in blood serum def: "The amount of a zinc finger protein 560 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger protein 560 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044209 name: level of zinc finger protein 566 in blood serum def: "The amount of a zinc finger protein 566 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger protein 566 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044210 name: level of zinc finger protein 580 in blood serum def: "The amount of a zinc finger protein 580 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger protein 580 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044211 name: level of zinc finger protein 593 in blood serum def: "The amount of a zinc finger protein 593 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger protein 593 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044212 name: level of zinc finger protein 69 in blood serum def: "The amount of a zinc finger protein 69 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger protein 69 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044213 name: level of zinc finger protein 696 in blood serum def: "The amount of a zinc finger protein 696 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger protein 696 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044214 name: level of zinc finger protein 75D in blood serum def: "The amount of a zinc finger protein 75D when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger protein 75D amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044215 name: level of zinc finger protein 774 in blood serum def: "The amount of a zinc finger protein 774 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger protein 774 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044216 name: level of zinc finger protein 843 in blood serum def: "The amount of a zinc finger protein 843 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger protein 843 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044217 name: level of zona pellucida sperm-binding protein 4 in blood serum def: "The amount of a zona pellucida sperm-binding protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zona pellucida sperm-binding protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044218 name: level of zona pellucida-binding protein 1 in blood serum def: "The amount of a zona pellucida-binding protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zona pellucida-binding protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044219 name: level of zona pellucida-binding protein 2 in blood serum def: "The amount of a zona pellucida-binding protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zona pellucida-binding protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044220 name: level of ubiquitin thioesterase ZRANB1 in blood serum def: "The amount of a ubiquitin thioesterase ZRANB1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin thioesterase ZRANB1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044221 name: level of zinc finger SWIM domain-containing protein 7 in blood serum def: "The amount of a zinc finger SWIM domain-containing protein 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger SWIM domain-containing protein 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044222 name: level of protein zwilch in blood serum def: "The amount of a protein zwilch when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein zwilch amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044223 name: level of ZW10 interactor in blood serum def: "The amount of a ZW10 interactor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ZW10 interactor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044224 name: level of zyxin in blood serum def: "The amount of a zyxin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zyxin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044225 name: level of heat shock 70 kDa protein 1B in blood serum def: "The amount of a heat shock 70 kDa protein 1B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum heat shock 70 kDa protein 1B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044226 name: level of killer cell lectin-like receptor subfamily B member 1 in blood serum def: "The amount of a killer cell lectin-like receptor subfamily B member 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum killer cell lectin-like receptor subfamily B member 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044227 name: level of solute carrier organic anion transporter family member 5A1 in blood serum def: "The amount of a solute carrier organic anion transporter family member 5A1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum solute carrier organic anion transporter family member 5A1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044228 name: level of cathelicidin antimicrobial peptide in blood serum def: "The amount of a cathelicidin antimicrobial peptide when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cathelicidin antimicrobial peptide amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044229 name: level of primate-type serum amyloid A-2 protein in blood serum def: "The amount of a primate-type serum amyloid A-2 protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum primate-type serum amyloid A-2 protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount relationship: characteristic_of PR:000025853 ! primate-type serum amyloid A-2 protein [Term] id: OBA:2044230 name: level of defensin beta 4A in blood serum def: "The amount of a defensin beta 4A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum defensin beta 4A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044231 name: level of SUN domain-containing protein 3 in blood serum def: "The amount of a SUN domain-containing protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SUN domain-containing protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044232 name: level of survival motor neuron protein in blood serum def: "The amount of a survival motor neuron protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum survival motor neuron protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044233 name: level of C-type lectin domain family 9 member A in blood serum def: "The amount of a C-type lectin domain family 9 member A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum C-type lectin domain family 9 member A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044234 name: level of transcription factor PML in blood serum def: "The amount of a transcription factor PML when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription factor PML amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044235 name: level of sulfotransferase 1A3 in blood serum def: "The amount of a sulfotransferase 1A3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sulfotransferase 1A3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044236 name: level of atypical kinase COQ8B, mitochondrial in blood serum def: "The amount of a atypical kinase COQ8B, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum atypical kinase COQ8B, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044237 name: level of aminoglycoside phosphotransferase domain-containing protein 1 in blood serum def: "The amount of a aminoglycoside phosphotransferase domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum aminoglycoside phosphotransferase domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044238 name: level of ankyrin repeat domain-containing protein 54 in blood serum def: "The amount of a ankyrin repeat domain-containing protein 54 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ankyrin repeat domain-containing protein 54 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044239 name: level of dysbindin domain-containing protein 2 in blood serum def: "The amount of a dysbindin domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dysbindin domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044240 name: level of E3 ISG15--protein ligase HERC5 in blood serum def: "The amount of a E3 ISG15--protein ligase HERC5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 ISG15--protein ligase HERC5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044241 name: level of adenylate kinase 4, mitochondrial in blood serum def: "The amount of a adenylate kinase 4, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum adenylate kinase 4, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044242 name: level of cGMP-dependent protein kinase 1 in blood serum def: "The amount of a cGMP-dependent protein kinase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cGMP-dependent protein kinase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044243 name: level of MAGUK p55 subfamily member 2 in blood serum def: "The amount of a MAGUK p55 subfamily member 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum MAGUK p55 subfamily member 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044244 name: level of NAD kinase 2, mitochondrial in blood serum def: "The amount of a NAD kinase 2, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NAD kinase 2, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044245 name: level of glycosaminoglycan xylosylkinase in blood serum def: "The amount of a glycosaminoglycan xylosylkinase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glycosaminoglycan xylosylkinase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044246 name: level of neurexin-1-alpha in blood serum def: "The amount of a neurexin-1-alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neurexin-1-alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044247 name: level of alanyl-tRNA editing protein Aarsd1 in blood serum def: "The amount of a alanyl-tRNA editing protein Aarsd1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alanyl-tRNA editing protein Aarsd1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044248 name: level of DNA dC->dU-editing enzyme APOBEC-3G in blood serum def: "The amount of a DNA dC->dU-editing enzyme APOBEC-3G when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA dC->dU-editing enzyme APOBEC-3G amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044249 name: level of ATP-binding cassette sub-family F member 3 in blood serum def: "The amount of a ATP-binding cassette sub-family F member 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ATP-binding cassette sub-family F member 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044250 name: level of palmitoyl-protein thioesterase ABHD10, mitochondrial in blood serum def: "The amount of a palmitoyl-protein thioesterase ABHD10, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum palmitoyl-protein thioesterase ABHD10, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044251 name: level of acyl-coenzyme A thioesterase 13 in blood serum def: "The amount of a acyl-coenzyme A thioesterase 13 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum acyl-coenzyme A thioesterase 13 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044252 name: level of Arf-GAP domain and FG repeat-containing protein 2 in blood serum def: "The amount of a Arf-GAP domain and FG repeat-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Arf-GAP domain and FG repeat-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044253 name: level of outer mitochondrial transmembrane helix translocase in blood serum def: "The amount of a outer mitochondrial transmembrane helix translocase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum outer mitochondrial transmembrane helix translocase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044254 name: level of BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 3 in blood serum def: "The amount of a BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044255 name: level of B-cell CLL/lymphoma 7 protein family member A in blood serum def: "The amount of a B-cell CLL/lymphoma 7 protein family member A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum B-cell CLL/lymphoma 7 protein family member A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044256 name: level of bromodomain-containing protein 1 in blood serum def: "The amount of a bromodomain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum bromodomain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044257 name: level of cilia- and flagella-associated protein 36 in blood serum def: "The amount of a cilia- and flagella-associated protein 36 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cilia- and flagella-associated protein 36 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044258 name: level of coiled-coil domain-containing protein 134 in blood serum def: "The amount of a coiled-coil domain-containing protein 134 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum coiled-coil domain-containing protein 134 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044259 name: level of coiled-coil domain-containing protein 90B, mitochondrial in blood serum def: "The amount of a coiled-coil domain-containing protein 90B, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum coiled-coil domain-containing protein 90B, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044260 name: level of cilia- and flagella-associated protein 45 in blood serum def: "The amount of a cilia- and flagella-associated protein 45 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cilia- and flagella-associated protein 45 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044261 name: level of coiled-coil domain-containing protein 25 in blood serum def: "The amount of a coiled-coil domain-containing protein 25 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum coiled-coil domain-containing protein 25 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044262 name: level of coiled-coil domain-containing protein 43 in blood serum def: "The amount of a coiled-coil domain-containing protein 43 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum coiled-coil domain-containing protein 43 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044263 name: level of coiled-coil domain-containing protein 56 in blood serum def: "The amount of a coiled-coil domain-containing protein 56 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum coiled-coil domain-containing protein 56 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044264 name: level of coiled-coil domain-containing protein 92 in blood serum def: "The amount of a coiled-coil domain-containing protein 92 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum coiled-coil domain-containing protein 92 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044265 name: level of splicing factor YJU2 in blood serum def: "The amount of a splicing factor YJU2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum splicing factor YJU2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044266 name: level of coiled-coil domain-containing protein 97 in blood serum def: "The amount of a coiled-coil domain-containing protein 97 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum coiled-coil domain-containing protein 97 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044267 name: level of coiled-coil domain-containing protein 9 in blood serum def: "The amount of a coiled-coil domain-containing protein 9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum coiled-coil domain-containing protein 9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044268 name: level of chromodomain Y-like protein 2 in blood serum def: "The amount of a chromodomain Y-like protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum chromodomain Y-like protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044269 name: level of coiled-coil-helix-coiled-coil-helix domain-containing protein 8 in blood serum def: "The amount of a coiled-coil-helix-coiled-coil-helix domain-containing protein 8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum coiled-coil-helix-coiled-coil-helix domain-containing protein 8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044270 name: level of C-type lectin domain family 4 member G in blood serum def: "The amount of a C-type lectin domain family 4 member G when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum C-type lectin domain family 4 member G amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044271 name: level of ATP-dependent Clp protease proteolytic subunit, mitochondrial in blood serum def: "The amount of a ATP-dependent Clp protease proteolytic subunit, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ATP-dependent Clp protease proteolytic subunit, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044272 name: level of COMM domain-containing protein 9 in blood serum def: "The amount of a COMM domain-containing protein 9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum COMM domain-containing protein 9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044273 name: level of COMM domain-containing protein 10 in blood serum def: "The amount of a COMM domain-containing protein 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum COMM domain-containing protein 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044274 name: level of serine/threonine-protein phosphatase CPPED1 in blood serum def: "The amount of a serine/threonine-protein phosphatase CPPED1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine/threonine-protein phosphatase CPPED1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044275 name: level of probable carboxypeptidase X1 in blood serum def: "The amount of a probable carboxypeptidase X1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum probable carboxypeptidase X1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044276 name: level of cytospin-B in blood serum def: "The amount of a cytospin-B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cytospin-B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044277 name: level of probable ATP-dependent RNA helicase DDX23 in blood serum def: "The amount of a probable ATP-dependent RNA helicase DDX23 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum probable ATP-dependent RNA helicase DDX23 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044278 name: level of antiviral innate immune response receptor RIG-I in blood serum def: "The amount of a antiviral innate immune response receptor RIG-I when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum antiviral innate immune response receptor RIG-I amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044279 name: level of probable ATP-dependent RNA helicase DDX6 in blood serum def: "The amount of a probable ATP-dependent RNA helicase DDX6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum probable ATP-dependent RNA helicase DDX6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044280 name: level of desumoylating isopeptidase 1 in blood serum def: "The amount of a desumoylating isopeptidase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum desumoylating isopeptidase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044281 name: level of DnaJ homolog subfamily C member 12 in blood serum def: "The amount of a DnaJ homolog subfamily C member 12 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DnaJ homolog subfamily C member 12 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044282 name: level of DnaJ homolog subfamily C member 15 in blood serum def: "The amount of a DnaJ homolog subfamily C member 15 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DnaJ homolog subfamily C member 15 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044283 name: level of DnaJ homolog subfamily C member 17 in blood serum def: "The amount of a DnaJ homolog subfamily C member 17 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DnaJ homolog subfamily C member 17 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044284 name: level of DnaJ homolog subfamily A member 4 in blood serum def: "The amount of a DnaJ homolog subfamily A member 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DnaJ homolog subfamily A member 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044285 name: level of DnaJ homolog subfamily B member 2 in blood serum def: "The amount of a DnaJ homolog subfamily B member 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DnaJ homolog subfamily B member 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044286 name: level of DnaJ homolog subfamily B member 4 in blood serum def: "The amount of a DnaJ homolog subfamily B member 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DnaJ homolog subfamily B member 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044287 name: level of calcium uptake protein 2, mitochondrial in blood serum def: "The amount of a calcium uptake protein 2, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calcium uptake protein 2, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044288 name: level of EF-hand domain-containing protein D1 in blood serum def: "The amount of a EF-hand domain-containing protein D1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum EF-hand domain-containing protein D1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044289 name: level of EF-hand domain-containing protein D2 in blood serum def: "The amount of a EF-hand domain-containing protein D2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum EF-hand domain-containing protein D2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044290 name: level of probable RNA-binding protein EIF1AD in blood serum def: "The amount of a probable RNA-binding protein EIF1AD when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum probable RNA-binding protein EIF1AD amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044291 name: level of ER membrane protein complex subunit 4 in blood serum def: "The amount of a ER membrane protein complex subunit 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ER membrane protein complex subunit 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044292 name: level of protein FAM102B in blood serum def: "The amount of a protein FAM102B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein FAM102B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044293 name: level of protein FAM118B in blood serum def: "The amount of a protein FAM118B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein FAM118B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044294 name: level of BRCA1-A complex subunit Abraxas 1 in blood serum def: "The amount of a BRCA1-A complex subunit Abraxas 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum BRCA1-A complex subunit Abraxas 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044295 name: level of DENN domain-containing protein 10 in blood serum def: "The amount of a DENN domain-containing protein 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DENN domain-containing protein 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044296 name: level of CYFIP-related Rac1 interactor B in blood serum def: "The amount of a CYFIP-related Rac1 interactor B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CYFIP-related Rac1 interactor B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044297 name: level of protein FAM50A in blood serum def: "The amount of a protein FAM50A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein FAM50A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044298 name: level of protein LRATD2 in blood serum def: "The amount of a protein LRATD2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein LRATD2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044299 name: level of protein FAM3C in blood serum def: "The amount of a protein FAM3C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein FAM3C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044300 name: level of FUN14 domain-containing protein 1 in blood serum def: "The amount of a FUN14 domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum FUN14 domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044301 name: level of GATA zinc finger domain-containing protein 1 in blood serum def: "The amount of a GATA zinc finger domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum GATA zinc finger domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044302 name: level of DNA-directed RNA polymerase II subunit GRINL1A in blood serum def: "The amount of a DNA-directed RNA polymerase II subunit GRINL1A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA-directed RNA polymerase II subunit GRINL1A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044303 name: level of ceramide-1-phosphate transfer protein in blood serum def: "The amount of a ceramide-1-phosphate transfer protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ceramide-1-phosphate transfer protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044304 name: level of GNAS gene translation product in blood serum def: "The amount of a GNAS gene translation product when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum GNAS gene translation product amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044305 name: level of GRAM domain-containing protein 2B in blood serum def: "The amount of a GRAM domain-containing protein 2B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum GRAM domain-containing protein 2B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044306 name: level of glutathione S-transferase mu 3 in blood serum def: "The amount of a glutathione S-transferase mu 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutathione S-transferase mu 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044307 name: level of glutathione S-transferase theta-2B in blood serum def: "The amount of a glutathione S-transferase theta-2B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutathione S-transferase theta-2B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044308 name: level of procollagen galactosyltransferase 1 in blood serum def: "The amount of a procollagen galactosyltransferase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum procollagen galactosyltransferase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044309 name: level of hemoglobin subunit epsilon in blood serum def: "The amount of a hemoglobin subunit epsilon when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum hemoglobin subunit epsilon amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044310 name: level of pseudouridine-5'-phosphatase in blood serum def: "The amount of a pseudouridine-5'-phosphatase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pseudouridine-5'-phosphatase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044311 name: level of probable E3 ubiquitin-protein ligase HERC1 in blood serum def: "The amount of a probable E3 ubiquitin-protein ligase HERC1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum probable E3 ubiquitin-protein ligase HERC1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044312 name: level of high mobility group nucleosome-binding domain-containing protein 3 in blood serum def: "The amount of a high mobility group nucleosome-binding domain-containing protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum high mobility group nucleosome-binding domain-containing protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044313 name: level of interferon-induced protein with tetratricopeptide repeats 2 in blood serum def: "The amount of a interferon-induced protein with tetratricopeptide repeats 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interferon-induced protein with tetratricopeptide repeats 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044314 name: level of interferon-induced protein with tetratricopeptide repeats 3 in blood serum def: "The amount of a interferon-induced protein with tetratricopeptide repeats 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interferon-induced protein with tetratricopeptide repeats 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044315 name: level of interferon alpha-1/13 in blood serum def: "The amount of a interferon alpha-1/13 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interferon alpha-1/13 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044316 name: level of BTB/POZ domain-containing protein KCTD15 in blood serum def: "The amount of a BTB/POZ domain-containing protein KCTD15 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum BTB/POZ domain-containing protein KCTD15 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044317 name: level of potassium channel regulatory protein in blood serum def: "The amount of a potassium channel regulatory protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum potassium channel regulatory protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044318 name: level of BTB/POZ domain-containing protein KCTD3 in blood serum def: "The amount of a BTB/POZ domain-containing protein KCTD3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum BTB/POZ domain-containing protein KCTD3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044319 name: level of BTB/POZ domain-containing protein KCTD5 in blood serum def: "The amount of a BTB/POZ domain-containing protein KCTD5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum BTB/POZ domain-containing protein KCTD5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044320 name: level of BTB/POZ domain-containing protein KCTD6 in blood serum def: "The amount of a BTB/POZ domain-containing protein KCTD6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum BTB/POZ domain-containing protein KCTD6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044321 name: level of BTB/POZ domain-containing protein KCTD7 in blood serum def: "The amount of a BTB/POZ domain-containing protein KCTD7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum BTB/POZ domain-containing protein KCTD7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044322 name: level of protein O-glucosyltransferase 3 in blood serum def: "The amount of a protein O-glucosyltransferase 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein O-glucosyltransferase 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044323 name: level of laminin subunit beta-1 in blood serum def: "The amount of a laminin subunit beta-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum laminin subunit beta-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044324 name: level of lamina-associated polypeptide 2 in blood serum def: "The amount of a lamina-associated polypeptide 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lamina-associated polypeptide 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044325 name: level of galectin-related protein in blood serum def: "The amount of a galectin-related protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum galectin-related protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044326 name: level of LIM domain-containing protein 1 in blood serum def: "The amount of a LIM domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum LIM domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044327 name: level of leucine-rich repeat-containing protein 59 in blood serum def: "The amount of a leucine-rich repeat-containing protein 59 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leucine-rich repeat-containing protein 59 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044328 name: level of leucine-rich repeat and fibronectin type-III domain-containing protein 4 in blood serum def: "The amount of a leucine-rich repeat and fibronectin type-III domain-containing protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leucine-rich repeat and fibronectin type-III domain-containing protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044329 name: level of leucine-rich repeat and transmembrane domain-containing protein 1 in blood serum def: "The amount of a leucine-rich repeat and transmembrane domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leucine-rich repeat and transmembrane domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044330 name: level of LysM and putative peptidoglycan-binding domain-containing protein 3 in blood serum def: "The amount of a LysM and putative peptidoglycan-binding domain-containing protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum LysM and putative peptidoglycan-binding domain-containing protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044331 name: level of ribosomal oxygenase 2 in blood serum def: "The amount of a ribosomal oxygenase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ribosomal oxygenase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044332 name: level of protein PALS2 in blood serum def: "The amount of a protein PALS2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein PALS2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044333 name: level of myocardial zonula adherens protein in blood serum def: "The amount of a myocardial zonula adherens protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum myocardial zonula adherens protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044334 name: level of NHL repeat-containing protein 2 in blood serum def: "The amount of a NHL repeat-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NHL repeat-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044335 name: level of NmrA-like family domain-containing protein 1 in blood serum def: "The amount of a NmrA-like family domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NmrA-like family domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044336 name: level of pro-neuregulin-1, membrane-bound isoform in blood serum def: "The amount of a pro-neuregulin-1, membrane-bound isoform when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pro-neuregulin-1, membrane-bound isoform amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044337 name: level of tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 in blood serum def: "The amount of a tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044338 name: level of protein kinase C and casein kinase substrate in neurons protein 3 in blood serum def: "The amount of a protein kinase C and casein kinase substrate in neurons protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein kinase C and casein kinase substrate in neurons protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044339 name: level of PDZ and LIM domain protein 4 in blood serum def: "The amount of a PDZ and LIM domain protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PDZ and LIM domain protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044340 name: level of PDZ domain-containing protein 11 in blood serum def: "The amount of a PDZ domain-containing protein 11 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PDZ domain-containing protein 11 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044341 name: level of phosphate-regulating neutral endopeptidase PHEX in blood serum def: "The amount of a phosphate-regulating neutral endopeptidase PHEX when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphate-regulating neutral endopeptidase PHEX amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044342 name: level of pleckstrin homology domain-containing family A member 7 in blood serum def: "The amount of a pleckstrin homology domain-containing family A member 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pleckstrin homology domain-containing family A member 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044343 name: level of pleckstrin homology domain-containing family F member 2 in blood serum def: "The amount of a pleckstrin homology domain-containing family F member 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pleckstrin homology domain-containing family F member 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044344 name: level of pleckstrin homology domain-containing family O member 2 in blood serum def: "The amount of a pleckstrin homology domain-containing family O member 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pleckstrin homology domain-containing family O member 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044345 name: level of putative phospholipase B-like 2 in blood serum def: "The amount of a putative phospholipase B-like 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum putative phospholipase B-like 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044346 name: level of plexin domain-containing protein 1 in blood serum def: "The amount of a plexin domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum plexin domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044347 name: level of proline-rich transmembrane protein 2 in blood serum def: "The amount of a proline-rich transmembrane protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum proline-rich transmembrane protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044348 name: level of PWWP domain-containing protein 2B in blood serum def: "The amount of a PWWP domain-containing protein 2B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PWWP domain-containing protein 2B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044349 name: level of queuine tRNA-ribosyltransferase accessory subunit 2 in blood serum def: "The amount of a queuine tRNA-ribosyltransferase accessory subunit 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum queuine tRNA-ribosyltransferase accessory subunit 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044350 name: level of GTPase HRas in blood serum def: "The amount of a GTPase HRas when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum GTPase HRas amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044351 name: level of probable RNA-binding protein 23 in blood serum def: "The amount of a probable RNA-binding protein 23 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum probable RNA-binding protein 23 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044352 name: level of RNA-binding protein 3 in blood serum def: "The amount of a RNA-binding protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RNA-binding protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044353 name: level of regulator of microtubule dynamics protein 3 in blood serum def: "The amount of a regulator of microtubule dynamics protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum regulator of microtubule dynamics protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044354 name: level of RWD domain-containing protein 4 in blood serum def: "The amount of a RWD domain-containing protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum RWD domain-containing protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044355 name: level of solute carrier family 35 member G2 in blood serum def: "The amount of a solute carrier family 35 member G2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum solute carrier family 35 member G2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044356 name: level of S-adenosylhomocysteine hydrolase-like protein 1 in blood serum def: "The amount of a S-adenosylhomocysteine hydrolase-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum S-adenosylhomocysteine hydrolase-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044357 name: level of SAM domain-containing protein SAMSN-1 in blood serum def: "The amount of a SAM domain-containing protein SAMSN-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SAM domain-containing protein SAMSN-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044358 name: level of NAD-dependent protein deacetylase sirtuin-3, mitochondrial in blood serum def: "The amount of a NAD-dependent protein deacetylase sirtuin-3, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NAD-dependent protein deacetylase sirtuin-3, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044359 name: level of protein Smaug homolog 2 in blood serum def: "The amount of a protein Smaug homolog 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein Smaug homolog 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044360 name: level of protein Spindly in blood serum def: "The amount of a protein Spindly when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein Spindly amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044361 name: level of sulfotransferase 2A1 in blood serum def: "The amount of a sulfotransferase 2A1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sulfotransferase 2A1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044362 name: level of transmembrane protein 106B in blood serum def: "The amount of a transmembrane protein 106B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transmembrane protein 106B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044363 name: level of transcription initiation factor IIE subunit beta in blood serum def: "The amount of a transcription initiation factor IIE subunit beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription initiation factor IIE subunit beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044364 name: level of THAP domain-containing protein 2 in blood serum def: "The amount of a THAP domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum THAP domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044365 name: level of peroxynitrite isomerase THAP4 in blood serum def: "The amount of a peroxynitrite isomerase THAP4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum peroxynitrite isomerase THAP4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044366 name: level of probable tRNA(His) guanylyltransferase in blood serum def: "The amount of a probable tRNA(His) guanylyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum probable tRNA(His) guanylyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044367 name: level of cytotoxic granule associated RNA binding protein TIA1 in blood serum def: "The amount of a cytotoxic granule associated RNA binding protein TIA1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cytotoxic granule associated RNA binding protein TIA1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044368 name: level of mitochondrial import inner membrane translocase subunit Tim8 A in blood serum def: "The amount of a mitochondrial import inner membrane translocase subunit Tim8 A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mitochondrial import inner membrane translocase subunit Tim8 A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044369 name: level of transmembrane protein 154 in blood serum def: "The amount of a transmembrane protein 154 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transmembrane protein 154 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044370 name: level of transmembrane protein 87B in blood serum def: "The amount of a transmembrane protein 87B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transmembrane protein 87B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044371 name: level of multifunctional methyltransferase subunit TRM112-like protein in blood serum def: "The amount of a multifunctional methyltransferase subunit TRM112-like protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum multifunctional methyltransferase subunit TRM112-like protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044372 name: level of E3 ubiquitin ligase TRIM40 in blood serum def: "The amount of a E3 ubiquitin ligase TRIM40 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 ubiquitin ligase TRIM40 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044373 name: level of tripartite motif-containing protein 3 in blood serum def: "The amount of a tripartite motif-containing protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tripartite motif-containing protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044374 name: level of pseudouridylate synthase TRUB1 in blood serum def: "The amount of a pseudouridylate synthase TRUB1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pseudouridylate synthase TRUB1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044375 name: level of outer dynein arm-docking complex subunit 4 in blood serum def: "The amount of a outer dynein arm-docking complex subunit 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum outer dynein arm-docking complex subunit 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044376 name: level of tetratricopeptide repeat protein 33 in blood serum def: "The amount of a tetratricopeptide repeat protein 33 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tetratricopeptide repeat protein 33 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044377 name: level of vesicle-associated membrane protein-associated protein B/C in blood serum def: "The amount of a vesicle-associated membrane protein-associated protein B/C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum vesicle-associated membrane protein-associated protein B/C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044378 name: level of V-set and immunoglobulin domain-containing protein 10 in blood serum def: "The amount of a V-set and immunoglobulin domain-containing protein 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum V-set and immunoglobulin domain-containing protein 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044379 name: level of WW domain-binding protein 2 in blood serum def: "The amount of a WW domain-binding protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum WW domain-binding protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044380 name: level of WD repeat-containing protein 18 in blood serum def: "The amount of a WD repeat-containing protein 18 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum WD repeat-containing protein 18 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044381 name: level of zinc finger CCCH domain-containing protein 8 in blood serum def: "The amount of a zinc finger CCCH domain-containing protein 8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger CCCH domain-containing protein 8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044382 name: level of palmitoyltransferase ZDHHC14 in blood serum def: "The amount of a palmitoyltransferase ZDHHC14 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum palmitoyltransferase ZDHHC14 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044383 name: level of chromosome transmission fidelity protein 8 homolog in blood serum def: "The amount of a chromosome transmission fidelity protein 8 homolog when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum chromosome transmission fidelity protein 8 homolog amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044384 name: level of multivesicular body subunit 12B in blood serum def: "The amount of a multivesicular body subunit 12B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum multivesicular body subunit 12B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044385 name: level of PDZ domain-containing protein MAGIX in blood serum def: "The amount of a PDZ domain-containing protein MAGIX when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PDZ domain-containing protein MAGIX amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044386 name: level of plasminogen activator inhibitor 2 in blood serum def: "The amount of a plasminogen activator inhibitor 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum plasminogen activator inhibitor 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044387 name: level of tetratricopeptide repeat protein 27 in blood serum def: "The amount of a tetratricopeptide repeat protein 27 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tetratricopeptide repeat protein 27 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044388 name: level of ADP-ribose glycohydrolase MACROD1 in blood serum def: "The amount of a ADP-ribose glycohydrolase MACROD1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ADP-ribose glycohydrolase MACROD1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044389 name: level of protein phosphatase 1 regulatory subunit 3G in blood serum def: "The amount of a protein phosphatase 1 regulatory subunit 3G when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein phosphatase 1 regulatory subunit 3G amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044390 name: level of DnaJ homolog subfamily C member 30, mitochondrial in blood serum def: "The amount of a DnaJ homolog subfamily C member 30, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DnaJ homolog subfamily C member 30, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044391 name: level of tripartite motif-containing protein 72 in blood serum def: "The amount of a tripartite motif-containing protein 72 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tripartite motif-containing protein 72 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044392 name: level of calaxin in blood serum def: "The amount of a calaxin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calaxin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044393 name: level of protein FAM24B in blood serum def: "The amount of a protein FAM24B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein FAM24B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044394 name: level of testis-expressed protein 29 in blood serum def: "The amount of a testis-expressed protein 29 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum testis-expressed protein 29 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044395 name: level of DOMON domain-containing protein FRRS1L in blood serum def: "The amount of a DOMON domain-containing protein FRRS1L when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DOMON domain-containing protein FRRS1L amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044396 name: level of transcription factor 24 in blood serum def: "The amount of a transcription factor 24 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription factor 24 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044397 name: level of microtubule-associated tumor suppressor candidate 2 in blood serum def: "The amount of a microtubule-associated tumor suppressor candidate 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum microtubule-associated tumor suppressor candidate 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044398 name: level of PI-PLC X domain-containing protein 3 in blood serum def: "The amount of a PI-PLC X domain-containing protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PI-PLC X domain-containing protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044399 name: level of centromere protein W in blood serum def: "The amount of a centromere protein W when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum centromere protein W amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044400 name: level of glutathione S-transferase mu 4 in blood serum def: "The amount of a glutathione S-transferase mu 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutathione S-transferase mu 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044401 name: level of t-SNARE domain-containing protein 1 in blood serum def: "The amount of a t-SNARE domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum t-SNARE domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044402 name: level of tetratricopeptide repeat protein 36 in blood serum def: "The amount of a tetratricopeptide repeat protein 36 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tetratricopeptide repeat protein 36 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044403 name: level of glucoside xylosyltransferase 1 in blood serum def: "The amount of a glucoside xylosyltransferase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glucoside xylosyltransferase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044404 name: level of leucine-rich repeat-containing protein 15 in blood serum def: "The amount of a leucine-rich repeat-containing protein 15 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leucine-rich repeat-containing protein 15 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044405 name: level of trafficking protein particle complex subunit 2 in blood serum def: "The amount of a trafficking protein particle complex subunit 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum trafficking protein particle complex subunit 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044406 name: level of NHL repeat-containing protein 3 in blood serum def: "The amount of a NHL repeat-containing protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NHL repeat-containing protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044407 name: level of oxidoreductase-like domain-containing protein 1 in blood serum def: "The amount of a oxidoreductase-like domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum oxidoreductase-like domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044408 name: level of transmembrane protein 119 in blood serum def: "The amount of a transmembrane protein 119 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transmembrane protein 119 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044409 name: level of protein FAM162A in blood serum def: "The amount of a protein FAM162A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein FAM162A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044410 name: level of CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2 in blood serum def: "The amount of a CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044411 name: level of coiled-coil domain-containing protein 69 in blood serum def: "The amount of a coiled-coil domain-containing protein 69 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum coiled-coil domain-containing protein 69 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044412 name: level of uridylate-specific endoribonuclease in blood serum def: "The amount of a uridylate-specific endoribonuclease when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum uridylate-specific endoribonuclease amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044413 name: level of small RNA 2'-O-methyltransferase in blood serum def: "The amount of a small RNA 2'-O-methyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum small RNA 2'-O-methyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044414 name: level of mitochondrial coiled-coil domain protein 1 in blood serum def: "The amount of a mitochondrial coiled-coil domain protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mitochondrial coiled-coil domain protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044415 name: level of leucine-rich repeat-containing protein 4 in blood serum def: "The amount of a leucine-rich repeat-containing protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leucine-rich repeat-containing protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044416 name: level of transmembrane protein 25 in blood serum def: "The amount of a transmembrane protein 25 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transmembrane protein 25 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044417 name: level of GDNF family receptor alpha-like in blood serum def: "The amount of a GDNF family receptor alpha-like when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum GDNF family receptor alpha-like amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044418 name: level of sushi domain-containing protein 3 in blood serum def: "The amount of a sushi domain-containing protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sushi domain-containing protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044419 name: level of adapter SH3BGRL in blood serum def: "The amount of a adapter SH3BGRL when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum adapter SH3BGRL amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044420 name: level of IGF-like family receptor 1 in blood serum def: "The amount of a IGF-like family receptor 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum IGF-like family receptor 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044421 name: level of cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1 in blood serum def: "The amount of a cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044422 name: level of transmembrane protein 230 in blood serum def: "The amount of a transmembrane protein 230 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transmembrane protein 230 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044423 name: level of PIH1 domain-containing protein 1 in blood serum def: "The amount of a PIH1 domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PIH1 domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044424 name: level of procollagen galactosyltransferase 2 in blood serum def: "The amount of a procollagen galactosyltransferase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum procollagen galactosyltransferase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044425 name: level of C4b-binding protein alpha chain in blood serum def: "The amount of a C4b-binding protein alpha chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum C4b-binding protein alpha chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044426 name: level of cell surface hyaluronidase in blood serum def: "The amount of a cell surface hyaluronidase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cell surface hyaluronidase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044427 name: level of ER membrane protein complex subunit 1 in blood serum def: "The amount of a ER membrane protein complex subunit 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ER membrane protein complex subunit 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044428 name: level of Rab11 family-interacting protein 3 in blood serum def: "The amount of a Rab11 family-interacting protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Rab11 family-interacting protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044429 name: level of EF-hand calcium-binding domain-containing protein 4B in blood serum def: "The amount of a EF-hand calcium-binding domain-containing protein 4B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum EF-hand calcium-binding domain-containing protein 4B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044430 name: level of transmembrane protein 190 in blood serum def: "The amount of a transmembrane protein 190 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transmembrane protein 190 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044431 name: level of transmembrane protein 52 in blood serum def: "The amount of a transmembrane protein 52 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transmembrane protein 52 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044432 name: level of ubiquitin domain-containing protein 2 in blood serum def: "The amount of a ubiquitin domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044433 name: level of coiled-coil-helix-coiled-coil-helix domain-containing protein 7 in blood serum def: "The amount of a coiled-coil-helix-coiled-coil-helix domain-containing protein 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum coiled-coil-helix-coiled-coil-helix domain-containing protein 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044434 name: level of COMM domain-containing protein 5 in blood serum def: "The amount of a COMM domain-containing protein 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum COMM domain-containing protein 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044435 name: level of putative chondrosarcoma-associated gene 1 protein in blood serum def: "The amount of a putative chondrosarcoma-associated gene 1 protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum putative chondrosarcoma-associated gene 1 protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044436 name: level of transcription factor CP2-like protein 1 in blood serum def: "The amount of a transcription factor CP2-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transcription factor CP2-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044437 name: level of endosomal transmembrane epsin interactor 1 in blood serum def: "The amount of a endosomal transmembrane epsin interactor 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum endosomal transmembrane epsin interactor 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044438 name: level of signal peptide, CUB and EGF-like domain-containing protein 3 in blood serum def: "The amount of a signal peptide, CUB and EGF-like domain-containing protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum signal peptide, CUB and EGF-like domain-containing protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044439 name: level of protein FAM171A1 in blood serum def: "The amount of a protein FAM171A1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein FAM171A1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044440 name: level of V-set and immunoglobulin domain-containing protein 8 in blood serum def: "The amount of a V-set and immunoglobulin domain-containing protein 8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum V-set and immunoglobulin domain-containing protein 8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044441 name: level of protein FAM162B in blood serum def: "The amount of a protein FAM162B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein FAM162B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044442 name: level of metallophosphoesterase MPPED2 in blood serum def: "The amount of a metallophosphoesterase MPPED2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum metallophosphoesterase MPPED2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044443 name: level of putative uncharacterized protein TXNRD3NB in blood serum def: "The amount of a putative uncharacterized protein TXNRD3NB when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum putative uncharacterized protein TXNRD3NB amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044444 name: level of E3 ubiquitin-protein ligase HECTD3 in blood serum def: "The amount of a E3 ubiquitin-protein ligase HECTD3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 ubiquitin-protein ligase HECTD3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044445 name: level of transmembrane protein 185A in blood serum def: "The amount of a transmembrane protein 185A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transmembrane protein 185A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044446 name: level of piezo-type mechanosensitive ion channel component 1 in blood serum def: "The amount of a piezo-type mechanosensitive ion channel component 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum piezo-type mechanosensitive ion channel component 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044447 name: level of mitochondrial import inner membrane translocase subunit Tim21 in blood serum def: "The amount of a mitochondrial import inner membrane translocase subunit Tim21 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mitochondrial import inner membrane translocase subunit Tim21 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044448 name: level of alanine--glyoxylate aminotransferase in blood serum def: "The amount of a alanine--glyoxylate aminotransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alanine--glyoxylate aminotransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044449 name: level of fatty acid-binding protein 12 in blood serum def: "The amount of a fatty acid-binding protein 12 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum fatty acid-binding protein 12 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044450 name: level of alpha-(1,3)-fucosyltransferase 7 in blood serum def: "The amount of a alpha-(1,3)-fucosyltransferase 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-(1,3)-fucosyltransferase 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044451 name: level of armadillo repeat-containing protein 8 in blood serum def: "The amount of a armadillo repeat-containing protein 8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum armadillo repeat-containing protein 8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044452 name: level of V-set and transmembrane domain-containing protein 1 in blood serum def: "The amount of a V-set and transmembrane domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum V-set and transmembrane domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044453 name: level of tubulin polymerization-promoting protein family member 3 in blood serum def: "The amount of a tubulin polymerization-promoting protein family member 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tubulin polymerization-promoting protein family member 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044454 name: level of probable aminopeptidase NPEPL1 in blood serum def: "The amount of a probable aminopeptidase NPEPL1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum probable aminopeptidase NPEPL1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044455 name: level of transmembrane protein 8B in blood serum def: "The amount of a transmembrane protein 8B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transmembrane protein 8B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044456 name: level of WSC domain-containing protein 2 in blood serum def: "The amount of a WSC domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum WSC domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044457 name: level of translational activator of cytochrome c oxidase 1 in blood serum def: "The amount of a translational activator of cytochrome c oxidase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum translational activator of cytochrome c oxidase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044458 name: level of leucine-rich repeat and fibronectin type-III domain-containing protein 2 in blood serum def: "The amount of a leucine-rich repeat and fibronectin type-III domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leucine-rich repeat and fibronectin type-III domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044459 name: level of palmitoyltransferase ZDHHC4 in blood serum def: "The amount of a palmitoyltransferase ZDHHC4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum palmitoyltransferase ZDHHC4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044460 name: level of cotranscriptional regulator FAM172A in blood serum def: "The amount of a cotranscriptional regulator FAM172A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cotranscriptional regulator FAM172A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044461 name: level of F-BAR and double SH3 domains protein 1 in blood serum def: "The amount of a F-BAR and double SH3 domains protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum F-BAR and double SH3 domains protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044462 name: level of fibronectin type III domain-containing protein 4 in blood serum def: "The amount of a fibronectin type III domain-containing protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum fibronectin type III domain-containing protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044463 name: level of BTB/POZ domain-containing protein KCTD2 in blood serum def: "The amount of a BTB/POZ domain-containing protein KCTD2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum BTB/POZ domain-containing protein KCTD2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044464 name: level of protein FAM177A1 in blood serum def: "The amount of a protein FAM177A1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein FAM177A1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044465 name: level of SH3 domain-binding glutamic acid-rich-like protein 2 in blood serum def: "The amount of a SH3 domain-binding glutamic acid-rich-like protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SH3 domain-binding glutamic acid-rich-like protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044466 name: level of draxin in blood serum def: "The amount of a draxin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum draxin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044467 name: level of membrane protein FAM174A in blood serum def: "The amount of a membrane protein FAM174A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum membrane protein FAM174A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044468 name: level of discoidin, CUB and LCCL domain-containing protein 1 in blood serum def: "The amount of a discoidin, CUB and LCCL domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum discoidin, CUB and LCCL domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044469 name: level of mitochondrial glycine transporter in blood serum def: "The amount of a mitochondrial glycine transporter when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mitochondrial glycine transporter amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044470 name: level of chemokine-like protein TAFA-5 in blood serum def: "The amount of a chemokine-like protein TAFA-5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum chemokine-like protein TAFA-5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044471 name: level of ubiquitin-conjugating enzyme E2 W in blood serum def: "The amount of a ubiquitin-conjugating enzyme E2 W when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin-conjugating enzyme E2 W amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044472 name: level of purine nucleoside phosphorylase LACC1 in blood serum def: "The amount of a purine nucleoside phosphorylase LACC1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum purine nucleoside phosphorylase LACC1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044473 name: level of succinate dehydrogenase assembly factor 1, mitochondrial in blood serum def: "The amount of a succinate dehydrogenase assembly factor 1, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum succinate dehydrogenase assembly factor 1, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044474 name: level of LysM and putative peptidoglycan-binding domain-containing protein 4 in blood serum def: "The amount of a LysM and putative peptidoglycan-binding domain-containing protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum LysM and putative peptidoglycan-binding domain-containing protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044475 name: level of glucose-induced degradation protein 8 homolog in blood serum def: "The amount of a glucose-induced degradation protein 8 homolog when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glucose-induced degradation protein 8 homolog amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044476 name: level of adhesion G-protein coupled receptor F1 in blood serum def: "The amount of a adhesion G-protein coupled receptor F1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum adhesion G-protein coupled receptor F1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044477 name: level of chemokine-like protein TAFA-2 in blood serum def: "The amount of a chemokine-like protein TAFA-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum chemokine-like protein TAFA-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044478 name: level of WAP four-disulfide core domain protein 3 in blood serum def: "The amount of a WAP four-disulfide core domain protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum WAP four-disulfide core domain protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044479 name: level of tubulin polymerization-promoting protein family member 2 in blood serum def: "The amount of a tubulin polymerization-promoting protein family member 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tubulin polymerization-promoting protein family member 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044480 name: level of 18S rRNA aminocarboxypropyltransferase in blood serum def: "The amount of a 18S rRNA aminocarboxypropyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 18S rRNA aminocarboxypropyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044481 name: level of methenyltetrahydrofolate synthase domain-containing protein in blood serum def: "The amount of a methenyltetrahydrofolate synthase domain-containing protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum methenyltetrahydrofolate synthase domain-containing protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044482 name: level of natural cytotoxicity triggering receptor 3 ligand 1 in blood serum def: "The amount of a natural cytotoxicity triggering receptor 3 ligand 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum natural cytotoxicity triggering receptor 3 ligand 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044483 name: level of DnaJ homolog subfamily B member 8 in blood serum def: "The amount of a DnaJ homolog subfamily B member 8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DnaJ homolog subfamily B member 8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044484 name: level of thrombospondin type-1 domain-containing protein 1 in blood serum def: "The amount of a thrombospondin type-1 domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum thrombospondin type-1 domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044485 name: level of 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase 9 in blood serum def: "The amount of a 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase 9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase 9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044486 name: level of leucine-rich repeat and fibronectin type-III domain-containing protein 3 in blood serum def: "The amount of a leucine-rich repeat and fibronectin type-III domain-containing protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leucine-rich repeat and fibronectin type-III domain-containing protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044487 name: level of DNA-directed RNA polymerase II subunit RPB11-a in blood serum def: "The amount of a DNA-directed RNA polymerase II subunit RPB11-a when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA-directed RNA polymerase II subunit RPB11-a amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044488 name: level of protein FAM3A in blood serum def: "The amount of a protein FAM3A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein FAM3A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044489 name: level of clathrin heavy chain 1 in blood serum def: "The amount of a clathrin heavy chain 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum clathrin heavy chain 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044490 name: level of histone-lysine N-methyltransferase ASH1L in blood serum def: "The amount of a histone-lysine N-methyltransferase ASH1L when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum histone-lysine N-methyltransferase ASH1L amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044491 name: level of VPS10 domain-containing receptor SorCS3 in blood serum def: "The amount of a VPS10 domain-containing receptor SorCS3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum VPS10 domain-containing receptor SorCS3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044492 name: level of protein FAM110A in blood serum def: "The amount of a protein FAM110A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein FAM110A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044493 name: level of G antigen 2A in blood serum def: "The amount of a G antigen 2A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum G antigen 2A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044494 name: level of GTPase IMAP family member GIMD1 in blood serum def: "The amount of a GTPase IMAP family member GIMD1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum GTPase IMAP family member GIMD1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044495 name: level of asparagine--tRNA ligase, mitochondrial in blood serum def: "The amount of a asparagine--tRNA ligase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum asparagine--tRNA ligase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044496 name: level of bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial in blood serum def: "The amount of a bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044497 name: level of leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 3 in blood serum def: "The amount of a leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044498 name: level of dynein regulatory complex protein 10 in blood serum def: "The amount of a dynein regulatory complex protein 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dynein regulatory complex protein 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044499 name: level of neuronal regeneration-related protein in blood serum def: "The amount of a neuronal regeneration-related protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neuronal regeneration-related protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044500 name: level of CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1 in blood serum def: "The amount of a CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044501 name: level of protein eva-1 homolog B in blood serum def: "The amount of a protein eva-1 homolog B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein eva-1 homolog B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044502 name: level of probable RNA-binding protein 46 in blood serum def: "The amount of a probable RNA-binding protein 46 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum probable RNA-binding protein 46 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044503 name: level of protein-lysine N-methyltransferase EEF2KMT in blood serum def: "The amount of a protein-lysine N-methyltransferase EEF2KMT when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein-lysine N-methyltransferase EEF2KMT amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044504 name: level of protein YAE1 in blood serum def: "The amount of a protein YAE1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein YAE1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044505 name: level of adhesion G-protein coupled receptor D1 in blood serum def: "The amount of a adhesion G-protein coupled receptor D1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum adhesion G-protein coupled receptor D1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044506 name: level of uroplakin-3b-like protein 1 in blood serum def: "The amount of a uroplakin-3b-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum uroplakin-3b-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044507 name: level of OTU domain-containing protein 3 in blood serum def: "The amount of a OTU domain-containing protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum OTU domain-containing protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044508 name: level of ankyrin repeat domain-containing protein 46 in blood serum def: "The amount of a ankyrin repeat domain-containing protein 46 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ankyrin repeat domain-containing protein 46 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044509 name: level of D-ribitol-5-phosphate cytidylyltransferase in blood serum def: "The amount of a D-ribitol-5-phosphate cytidylyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum D-ribitol-5-phosphate cytidylyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044510 name: level of nucleotide triphosphate diphosphatase in blood serum def: "The amount of a nucleotide triphosphate diphosphatase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nucleotide triphosphate diphosphatase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044511 name: level of protein BRICK1 in blood serum def: "The amount of a protein BRICK1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein BRICK1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044512 name: level of adhesion G-protein coupled receptor F2 in blood serum def: "The amount of a adhesion G-protein coupled receptor F2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum adhesion G-protein coupled receptor F2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044513 name: level of regulation of nuclear pre-mRNA domain-containing protein 1B in blood serum def: "The amount of a regulation of nuclear pre-mRNA domain-containing protein 1B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum regulation of nuclear pre-mRNA domain-containing protein 1B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044514 name: level of BRO1 domain-containing protein BROX in blood serum def: "The amount of a BRO1 domain-containing protein BROX when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum BRO1 domain-containing protein BROX amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044515 name: level of leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3 in blood serum def: "The amount of a leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044516 name: level of metalloprotease TIKI1 in blood serum def: "The amount of a metalloprotease TIKI1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum metalloprotease TIKI1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044517 name: level of nuclear pore complex-interacting protein family member B3 in blood serum def: "The amount of a nuclear pore complex-interacting protein family member B3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nuclear pore complex-interacting protein family member B3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044518 name: level of noncompact myelin-associated protein in blood serum def: "The amount of a noncompact myelin-associated protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum noncompact myelin-associated protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044519 name: level of probable dimethyladenosine transferase in blood serum def: "The amount of a probable dimethyladenosine transferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum probable dimethyladenosine transferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044520 name: level of ankyrin repeat domain-containing protein 40 in blood serum def: "The amount of a ankyrin repeat domain-containing protein 40 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ankyrin repeat domain-containing protein 40 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044521 name: level of reticulophagy regulator 1 in blood serum def: "The amount of a reticulophagy regulator 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum reticulophagy regulator 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044522 name: level of chitinase domain-containing protein 1 in blood serum def: "The amount of a chitinase domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum chitinase domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044523 name: level of CYFIP-related Rac1 interactor A in blood serum def: "The amount of a CYFIP-related Rac1 interactor A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CYFIP-related Rac1 interactor A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044524 name: level of polyphosphoinositide phosphatase in blood serum def: "The amount of a polyphosphoinositide phosphatase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum polyphosphoinositide phosphatase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044525 name: level of centrosomal protein of 112 kDa in blood serum def: "The amount of a centrosomal protein of 112 kDa when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum centrosomal protein of 112 kDa amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044526 name: level of transforming growth factor beta activator LRRC32 in blood serum def: "The amount of a transforming growth factor beta activator LRRC32 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transforming growth factor beta activator LRRC32 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044527 name: level of leucine-rich repeat LGI family member 3 in blood serum def: "The amount of a leucine-rich repeat LGI family member 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leucine-rich repeat LGI family member 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044528 name: level of DnaJ homolog subfamily C member 5B in blood serum def: "The amount of a DnaJ homolog subfamily C member 5B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DnaJ homolog subfamily C member 5B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044529 name: level of centrosomal protein 20 in blood serum def: "The amount of a centrosomal protein 20 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum centrosomal protein 20 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044530 name: level of E3 ubiquitin-protein ligase TRIM62 in blood serum def: "The amount of a E3 ubiquitin-protein ligase TRIM62 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum E3 ubiquitin-protein ligase TRIM62 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044531 name: level of protein phosphatase 1 regulatory subunit 29 in blood serum def: "The amount of a protein phosphatase 1 regulatory subunit 29 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein phosphatase 1 regulatory subunit 29 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044532 name: level of aldehyde dehydrogenase family 3 member B1 in blood serum def: "The amount of a aldehyde dehydrogenase family 3 member B1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum aldehyde dehydrogenase family 3 member B1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044533 name: level of DnaJ homolog subfamily B member 12 in blood serum def: "The amount of a DnaJ homolog subfamily B member 12 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DnaJ homolog subfamily B member 12 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044534 name: level of nucleotidyltransferase MB21D2 in blood serum def: "The amount of a nucleotidyltransferase MB21D2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nucleotidyltransferase MB21D2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044535 name: level of AT-rich interactive domain-containing protein 3C in blood serum def: "The amount of a AT-rich interactive domain-containing protein 3C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum AT-rich interactive domain-containing protein 3C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044536 name: level of carboxylesterase 3 in blood serum def: "The amount of a carboxylesterase 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum carboxylesterase 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044537 name: level of BRISC complex subunit Abraxas 2 in blood serum def: "The amount of a BRISC complex subunit Abraxas 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum BRISC complex subunit Abraxas 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044538 name: level of protein-lysine methyltransferase METTL21C in blood serum def: "The amount of a protein-lysine methyltransferase METTL21C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein-lysine methyltransferase METTL21C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044539 name: level of eukaryotic translation initiation factor 1A, X-chromosomal in blood serum def: "The amount of a eukaryotic translation initiation factor 1A, X-chromosomal when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum eukaryotic translation initiation factor 1A, X-chromosomal amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044540 name: level of prostaglandin reductase 3 in blood serum def: "The amount of a prostaglandin reductase 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum prostaglandin reductase 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044541 name: level of DDB1- and CUL4-associated factor 11 in blood serum def: "The amount of a DDB1- and CUL4-associated factor 11 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DDB1- and CUL4-associated factor 11 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044542 name: level of DDRGK domain-containing protein 1 in blood serum def: "The amount of a DDRGK domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DDRGK domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044543 name: level of fibronectin type III domain-containing protein 8 in blood serum def: "The amount of a fibronectin type III domain-containing protein 8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum fibronectin type III domain-containing protein 8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044544 name: level of lysosomal cobalamin transporter ABCD4 in blood serum def: "The amount of a lysosomal cobalamin transporter ABCD4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lysosomal cobalamin transporter ABCD4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044545 name: level of coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial in blood serum def: "The amount of a coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044546 name: level of divergent protein kinase domain 1C in blood serum def: "The amount of a divergent protein kinase domain 1C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum divergent protein kinase domain 1C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044547 name: level of ubiquitin thioesterase otulin in blood serum def: "The amount of a ubiquitin thioesterase otulin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin thioesterase otulin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044548 name: level of WAP four-disulfide core domain protein 8 in blood serum def: "The amount of a WAP four-disulfide core domain protein 8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum WAP four-disulfide core domain protein 8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044549 name: level of coiled-coil domain-containing protein 149 in blood serum def: "The amount of a coiled-coil domain-containing protein 149 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum coiled-coil domain-containing protein 149 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044550 name: level of ankyrin repeat and MYND domain-containing protein 2 in blood serum def: "The amount of a ankyrin repeat and MYND domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ankyrin repeat and MYND domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044551 name: level of ER membrane protein complex subunit 10 in blood serum def: "The amount of a ER membrane protein complex subunit 10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ER membrane protein complex subunit 10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044552 name: level of prosaposin in blood serum def: "The amount of a prosaposin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum prosaposin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044553 name: level of TOX high mobility group box family member 3 in blood serum def: "The amount of a TOX high mobility group box family member 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum TOX high mobility group box family member 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044554 name: level of leucine-rich repeat-containing protein 37A2 in blood serum def: "The amount of a leucine-rich repeat-containing protein 37A2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leucine-rich repeat-containing protein 37A2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044555 name: level of acyl-coenzyme A thioesterase MBLAC2 in blood serum def: "The amount of a acyl-coenzyme A thioesterase MBLAC2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum acyl-coenzyme A thioesterase MBLAC2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044556 name: level of coiled-coil domain-containing protein 126 in blood serum def: "The amount of a coiled-coil domain-containing protein 126 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum coiled-coil domain-containing protein 126 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044557 name: level of polypeptide N-acetylgalactosaminyltransferase 16 in blood serum def: "The amount of a polypeptide N-acetylgalactosaminyltransferase 16 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum polypeptide N-acetylgalactosaminyltransferase 16 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044558 name: level of endogenous retrovirus group V member 1 Env polyprotein in blood serum def: "The amount of a endogenous retrovirus group V member 1 Env polyprotein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum endogenous retrovirus group V member 1 Env polyprotein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044559 name: level of WW domain binding protein 1-like in blood serum def: "The amount of a WW domain binding protein 1-like when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum WW domain binding protein 1-like amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044560 name: level of protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 in blood serum def: "The amount of a protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044561 name: level of V-set and immunoglobulin domain-containing protein 10-like in blood serum def: "The amount of a V-set and immunoglobulin domain-containing protein 10-like when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum V-set and immunoglobulin domain-containing protein 10-like amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044562 name: level of Cx9C motif-containing protein 4 in blood serum def: "The amount of a Cx9C motif-containing protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Cx9C motif-containing protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044563 name: level of immunoglobulin superfamily member 3 in blood serum def: "The amount of a immunoglobulin superfamily member 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum immunoglobulin superfamily member 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044564 name: level of sushi domain-containing protein 1 in blood serum def: "The amount of a sushi domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sushi domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044565 name: level of V-set and immunoglobulin domain-containing protein 1 in blood serum def: "The amount of a V-set and immunoglobulin domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum V-set and immunoglobulin domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044566 name: level of CUB and sushi domain-containing protein 2 in blood serum def: "The amount of a CUB and sushi domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CUB and sushi domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044567 name: level of xyloside xylosyltransferase 1 in blood serum def: "The amount of a xyloside xylosyltransferase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum xyloside xylosyltransferase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044568 name: level of testicular spindle-associated protein SHCBP1L in blood serum def: "The amount of a testicular spindle-associated protein SHCBP1L when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum testicular spindle-associated protein SHCBP1L amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044569 name: level of coiled-coil domain-containing protein 140 in blood serum def: "The amount of a coiled-coil domain-containing protein 140 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum coiled-coil domain-containing protein 140 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044570 name: level of Xaa-Pro aminopeptidase 3 in blood serum def: "The amount of a Xaa-Pro aminopeptidase 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Xaa-Pro aminopeptidase 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044571 name: level of Ly6/PLAUR domain-containing protein 8 in blood serum def: "The amount of a Ly6/PLAUR domain-containing protein 8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ly6/PLAUR domain-containing protein 8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044572 name: level of trans-3-hydroxy-L-proline dehydratase in blood serum def: "The amount of a trans-3-hydroxy-L-proline dehydratase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum trans-3-hydroxy-L-proline dehydratase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044573 name: level of TBC1 domain family member 28 in blood serum def: "The amount of a TBC1 domain family member 28 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum TBC1 domain family member 28 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044574 name: level of leucine-rich repeat-containing protein 20 in blood serum def: "The amount of a leucine-rich repeat-containing protein 20 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leucine-rich repeat-containing protein 20 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044575 name: level of tryptase alpha/beta-1 in blood serum def: "The amount of a tryptase alpha/beta-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tryptase alpha/beta-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044576 name: level of von Willebrand factor C domain-containing protein 2-like in blood serum def: "The amount of a von Willebrand factor C domain-containing protein 2-like when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum von Willebrand factor C domain-containing protein 2-like amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044577 name: level of prenylcysteine oxidase 1 in blood serum def: "The amount of a prenylcysteine oxidase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum prenylcysteine oxidase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044578 name: level of G0/G1 switch protein 2 in blood serum def: "The amount of a G0/G1 switch protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum G0/G1 switch protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044579 name: level of DDB1- and CUL4-associated factor 5 in blood serum def: "The amount of a DDB1- and CUL4-associated factor 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DDB1- and CUL4-associated factor 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044580 name: level of POTE ankyrin domain family member G in blood serum def: "The amount of a POTE ankyrin domain family member G when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum POTE ankyrin domain family member G amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044581 name: level of ankyrin repeat and SAM domain-containing protein 3 in blood serum def: "The amount of a ankyrin repeat and SAM domain-containing protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ankyrin repeat and SAM domain-containing protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044582 name: level of acyl-CoA-binding domain-containing protein 4 in blood serum def: "The amount of a acyl-CoA-binding domain-containing protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum acyl-CoA-binding domain-containing protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044583 name: level of HORMA domain-containing protein 2 in blood serum def: "The amount of a HORMA domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum HORMA domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044584 name: level of von Willebrand factor A domain-containing protein 2 in blood serum def: "The amount of a von Willebrand factor A domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum von Willebrand factor A domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044585 name: level of transmembrane protein 106A in blood serum def: "The amount of a transmembrane protein 106A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transmembrane protein 106A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044586 name: level of NudC domain-containing protein 2 in blood serum def: "The amount of a NudC domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NudC domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044587 name: level of putative deoxyribonuclease TATDN3 in blood serum def: "The amount of a putative deoxyribonuclease TATDN3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum putative deoxyribonuclease TATDN3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044588 name: level of DDB1- and CUL4-associated factor 12 in blood serum def: "The amount of a DDB1- and CUL4-associated factor 12 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DDB1- and CUL4-associated factor 12 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044589 name: level of protein FAM118A in blood serum def: "The amount of a protein FAM118A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein FAM118A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044590 name: level of probable E3 ubiquitin-protein ligase TRIML1 in blood serum def: "The amount of a probable E3 ubiquitin-protein ligase TRIML1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum probable E3 ubiquitin-protein ligase TRIML1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044591 name: level of insulin growth factor-like family member 3 in blood serum def: "The amount of a insulin growth factor-like family member 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum insulin growth factor-like family member 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044592 name: level of protein p13 MTCP-1 in blood serum def: "The amount of a protein p13 MTCP-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein p13 MTCP-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044593 name: level of transmembrane and immunoglobulin domain-containing protein 2 in blood serum def: "The amount of a transmembrane and immunoglobulin domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transmembrane and immunoglobulin domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044594 name: level of leucine-rich repeat-containing protein 3B in blood serum def: "The amount of a leucine-rich repeat-containing protein 3B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leucine-rich repeat-containing protein 3B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044595 name: level of peroxiredoxin-like 2A in blood serum def: "The amount of a peroxiredoxin-like 2A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum peroxiredoxin-like 2A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044596 name: level of Myb/SANT-like DNA-binding domain-containing protein 2 in blood serum def: "The amount of a Myb/SANT-like DNA-binding domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Myb/SANT-like DNA-binding domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044597 name: level of bifunctional peptidase and arginyl-hydroxylase JMJD5 in blood serum def: "The amount of a bifunctional peptidase and arginyl-hydroxylase JMJD5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum bifunctional peptidase and arginyl-hydroxylase JMJD5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044598 name: level of SOSS complex subunit C in blood serum def: "The amount of a SOSS complex subunit C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SOSS complex subunit C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044599 name: level of pleckstrin homology domain-containing family M member 2 in blood serum def: "The amount of a pleckstrin homology domain-containing family M member 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pleckstrin homology domain-containing family M member 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044600 name: level of NEDD8-conjugating enzyme UBE2F in blood serum def: "The amount of a NEDD8-conjugating enzyme UBE2F when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NEDD8-conjugating enzyme UBE2F amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044601 name: level of methyltransferase BCDIN3D in blood serum def: "The amount of a methyltransferase BCDIN3D when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum methyltransferase BCDIN3D amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044602 name: level of probable methyltransferase-like protein 24 in blood serum def: "The amount of a probable methyltransferase-like protein 24 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum probable methyltransferase-like protein 24 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044603 name: level of protein FAM151B in blood serum def: "The amount of a protein FAM151B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein FAM151B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044604 name: level of testis-expressed protein 30 in blood serum def: "The amount of a testis-expressed protein 30 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum testis-expressed protein 30 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044605 name: level of eukaryotic translation initiation factor 1A, Y-chromosomal in blood serum def: "The amount of a eukaryotic translation initiation factor 1A, Y-chromosomal when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum eukaryotic translation initiation factor 1A, Y-chromosomal amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044606 name: level of rRNA methyltransferase 2, mitochondrial in blood serum def: "The amount of a rRNA methyltransferase 2, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum rRNA methyltransferase 2, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044607 name: level of sterile alpha motif domain-containing protein 12 in blood serum def: "The amount of a sterile alpha motif domain-containing protein 12 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sterile alpha motif domain-containing protein 12 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044608 name: level of PDZ domain-containing protein GIPC2 in blood serum def: "The amount of a PDZ domain-containing protein GIPC2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PDZ domain-containing protein GIPC2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044609 name: level of adhesion G protein-coupled receptor F5 in blood serum def: "The amount of a adhesion G protein-coupled receptor F5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum adhesion G protein-coupled receptor F5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044610 name: level of V-set and transmembrane domain-containing protein 4 in blood serum def: "The amount of a V-set and transmembrane domain-containing protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum V-set and transmembrane domain-containing protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044611 name: level of ADP-ribose glycohydrolase MACROD2 in blood serum def: "The amount of a ADP-ribose glycohydrolase MACROD2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ADP-ribose glycohydrolase MACROD2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044612 name: level of transmembrane and coiled-coil domain-containing protein 5A in blood serum def: "The amount of a transmembrane and coiled-coil domain-containing protein 5A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transmembrane and coiled-coil domain-containing protein 5A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044613 name: level of ubiquitin carboxyl-terminal hydrolase CYLD in blood serum def: "The amount of a ubiquitin carboxyl-terminal hydrolase CYLD when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ubiquitin carboxyl-terminal hydrolase CYLD amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044614 name: level of IgLON family member 5 in blood serum def: "The amount of a IgLON family member 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum IgLON family member 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044615 name: level of pseudokinase FAM20A in blood serum def: "The amount of a pseudokinase FAM20A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pseudokinase FAM20A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044616 name: level of glycosyltransferase 8 domain-containing protein 2 in blood serum def: "The amount of a glycosyltransferase 8 domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glycosyltransferase 8 domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044617 name: level of C->U-editing enzyme APOBEC-2 in blood serum def: "The amount of a C->U-editing enzyme APOBEC-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum C->U-editing enzyme APOBEC-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044618 name: level of glycerophosphocholine phosphodiesterase GPCPD1 in blood serum def: "The amount of a glycerophosphocholine phosphodiesterase GPCPD1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glycerophosphocholine phosphodiesterase GPCPD1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044619 name: level of protein LRATD1 in blood serum def: "The amount of a protein LRATD1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein LRATD1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044620 name: level of leucine-rich repeat and transmembrane domain-containing protein 2 in blood serum def: "The amount of a leucine-rich repeat and transmembrane domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leucine-rich repeat and transmembrane domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044621 name: level of ankyrin repeat domain-containing protein 63 in blood serum def: "The amount of a ankyrin repeat domain-containing protein 63 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ankyrin repeat domain-containing protein 63 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044622 name: level of piRNA biogenesis protein EXD1 in blood serum def: "The amount of a piRNA biogenesis protein EXD1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum piRNA biogenesis protein EXD1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044623 name: level of extracellular serine/threonine protein kinase Fam20C in blood serum def: "The amount of a extracellular serine/threonine protein kinase Fam20C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum extracellular serine/threonine protein kinase Fam20C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044624 name: level of probable RNA-binding protein 19 in blood serum def: "The amount of a probable RNA-binding protein 19 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum probable RNA-binding protein 19 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044625 name: level of izumo sperm-egg fusion protein 4 in blood serum def: "The amount of a izumo sperm-egg fusion protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum izumo sperm-egg fusion protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044626 name: level of ankyrin repeat domain-containing protein 45 in blood serum def: "The amount of a ankyrin repeat domain-containing protein 45 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ankyrin repeat domain-containing protein 45 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044627 name: level of BTB/POZ domain-containing protein KCTD4 in blood serum def: "The amount of a BTB/POZ domain-containing protein KCTD4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum BTB/POZ domain-containing protein KCTD4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044628 name: level of pleckstrin homology domain-containing family B member 1 in blood serum def: "The amount of a pleckstrin homology domain-containing family B member 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pleckstrin homology domain-containing family B member 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044629 name: level of transmembrane and ubiquitin-like domain-containing protein 2 in blood serum def: "The amount of a transmembrane and ubiquitin-like domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transmembrane and ubiquitin-like domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044630 name: level of transmembrane emp24 domain-containing protein 9 in blood serum def: "The amount of a transmembrane emp24 domain-containing protein 9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transmembrane emp24 domain-containing protein 9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044631 name: level of phospholipase B-like 1 in blood serum def: "The amount of a phospholipase B-like 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phospholipase B-like 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044632 name: level of IST1 homolog in blood serum def: "The amount of a IST1 homolog when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum IST1 homolog amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044633 name: level of allergin-1 in blood serum def: "The amount of a allergin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum allergin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044634 name: level of AP-4 complex accessory subunit Tepsin in blood serum def: "The amount of a AP-4 complex accessory subunit Tepsin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum AP-4 complex accessory subunit Tepsin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044635 name: level of isochorismatase domain-containing protein 1 in blood serum def: "The amount of a isochorismatase domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum isochorismatase domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044636 name: level of WAP four-disulfide core domain protein 2 in blood serum def: "The amount of a WAP four-disulfide core domain protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum WAP four-disulfide core domain protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044637 name: level of protein FAM219B in blood serum def: "The amount of a protein FAM219B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein FAM219B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044638 name: level of PDZ domain-containing protein 7 in blood serum def: "The amount of a PDZ domain-containing protein 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PDZ domain-containing protein 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044639 name: level of probable serine carboxypeptidase CPVL in blood serum def: "The amount of a probable serine carboxypeptidase CPVL when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum probable serine carboxypeptidase CPVL amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044640 name: level of deoxyribonuclease TATDN1 in blood serum def: "The amount of a deoxyribonuclease TATDN1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum deoxyribonuclease TATDN1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044641 name: level of FAD-dependent oxidoreductase domain-containing protein 1 in blood serum def: "The amount of a FAD-dependent oxidoreductase domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum FAD-dependent oxidoreductase domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044642 name: level of DnaJ homolog subfamily C member 16 in blood serum def: "The amount of a DnaJ homolog subfamily C member 16 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DnaJ homolog subfamily C member 16 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044643 name: level of leucine-rich repeat-containing protein 24 in blood serum def: "The amount of a leucine-rich repeat-containing protein 24 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leucine-rich repeat-containing protein 24 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044644 name: level of GH3 domain-containing protein in blood serum def: "The amount of a GH3 domain-containing protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum GH3 domain-containing protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044645 name: level of AP-1 complex-associated regulatory protein in blood serum def: "The amount of a AP-1 complex-associated regulatory protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum AP-1 complex-associated regulatory protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044646 name: level of PIH1 domain-containing protein 2 in blood serum def: "The amount of a PIH1 domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PIH1 domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044647 name: level of 5'-nucleotidase domain-containing protein 3 in blood serum def: "The amount of a 5'-nucleotidase domain-containing protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 5'-nucleotidase domain-containing protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044648 name: level of transmembrane protein PVRIG in blood serum def: "The amount of a transmembrane protein PVRIG when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transmembrane protein PVRIG amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044649 name: level of endoplasmic reticulum transmembrane helix translocase in blood serum def: "The amount of a endoplasmic reticulum transmembrane helix translocase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum endoplasmic reticulum transmembrane helix translocase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044650 name: level of putative protein N-methyltransferase FAM86B1 in blood serum def: "The amount of a putative protein N-methyltransferase FAM86B1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum putative protein N-methyltransferase FAM86B1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044651 name: level of serine hydrolase RBBP9 in blood serum def: "The amount of a serine hydrolase RBBP9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine hydrolase RBBP9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044652 name: level of KxDL motif-containing protein 1 in blood serum def: "The amount of a KxDL motif-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum KxDL motif-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044653 name: level of protein kish-B in blood serum def: "The amount of a protein kish-B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein kish-B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044654 name: level of complex I intermediate-associated protein 30, mitochondrial in blood serum def: "The amount of a complex I intermediate-associated protein 30, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum complex I intermediate-associated protein 30, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044655 name: level of tubulin polyglutamylase complex subunit 2 in blood serum def: "The amount of a tubulin polyglutamylase complex subunit 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tubulin polyglutamylase complex subunit 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044656 name: level of small vasohibin-binding protein in blood serum def: "The amount of a small vasohibin-binding protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum small vasohibin-binding protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044657 name: level of WAP four-disulfide core domain protein 6 in blood serum def: "The amount of a WAP four-disulfide core domain protein 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum WAP four-disulfide core domain protein 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044658 name: level of SLP adapter and CSK-interacting membrane protein in blood serum def: "The amount of a SLP adapter and CSK-interacting membrane protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SLP adapter and CSK-interacting membrane protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044659 name: level of Rab-like protein 6 in blood serum def: "The amount of a Rab-like protein 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Rab-like protein 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044660 name: level of epididymal secretory protein E3-beta in blood serum def: "The amount of a epididymal secretory protein E3-beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum epididymal secretory protein E3-beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044661 name: level of endoplasmic reticulum lectin 1 in blood serum def: "The amount of a endoplasmic reticulum lectin 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum endoplasmic reticulum lectin 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044662 name: level of C-type lectin domain family 2 member B in blood serum def: "The amount of a C-type lectin domain family 2 member B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum C-type lectin domain family 2 member B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044663 name: level of MAM domain-containing protein 2 in blood serum def: "The amount of a MAM domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum MAM domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044664 name: level of DnaJ homolog subfamily C member 27 in blood serum def: "The amount of a DnaJ homolog subfamily C member 27 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DnaJ homolog subfamily C member 27 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044665 name: level of glycosyltransferase 8 domain-containing protein 1 in blood serum def: "The amount of a glycosyltransferase 8 domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glycosyltransferase 8 domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044666 name: level of coiled-coil domain-containing protein 24 in blood serum def: "The amount of a coiled-coil domain-containing protein 24 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum coiled-coil domain-containing protein 24 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044667 name: level of protein FAM171A2 in blood serum def: "The amount of a protein FAM171A2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein FAM171A2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044668 name: level of MORF4 family-associated protein 1-like 1 in blood serum def: "The amount of a MORF4 family-associated protein 1-like 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum MORF4 family-associated protein 1-like 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044669 name: level of dehydrogenase/reductase SDR family member 11 in blood serum def: "The amount of a dehydrogenase/reductase SDR family member 11 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dehydrogenase/reductase SDR family member 11 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044670 name: level of BTB/POZ domain-containing protein KCTD1 in blood serum def: "The amount of a BTB/POZ domain-containing protein KCTD1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum BTB/POZ domain-containing protein KCTD1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044671 name: level of protein PET117 homolog, mitochondrial in blood serum def: "The amount of a protein PET117 homolog, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein PET117 homolog, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044672 name: level of rieske domain-containing protein in blood serum def: "The amount of a rieske domain-containing protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum rieske domain-containing protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044673 name: level of butyrophilin subfamily 3 member A2 in blood serum def: "The amount of a butyrophilin subfamily 3 member A2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum butyrophilin subfamily 3 member A2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044674 name: level of Rho GTPase-activating protein 36 in blood serum def: "The amount of a Rho GTPase-activating protein 36 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Rho GTPase-activating protein 36 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044675 name: level of haloacid dehalogenase-like hydrolase domain-containing protein 2 in blood serum def: "The amount of a haloacid dehalogenase-like hydrolase domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum haloacid dehalogenase-like hydrolase domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044676 name: level of cytochrome c oxidase assembly factor 7 in blood serum def: "The amount of a cytochrome c oxidase assembly factor 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cytochrome c oxidase assembly factor 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044677 name: level of leucine-rich repeat-containing protein 3 in blood serum def: "The amount of a leucine-rich repeat-containing protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leucine-rich repeat-containing protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044678 name: level of intelectin-1 in blood serum def: "The amount of a intelectin-1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum intelectin-1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044679 name: level of protein FAM163B in blood serum def: "The amount of a protein FAM163B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein FAM163B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044680 name: level of zinc finger C4H2 domain-containing protein in blood serum def: "The amount of a zinc finger C4H2 domain-containing protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger C4H2 domain-containing protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044681 name: level of probable RNA-binding protein 18 in blood serum def: "The amount of a probable RNA-binding protein 18 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum probable RNA-binding protein 18 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044682 name: level of MICOS complex subunit MIC10 in blood serum def: "The amount of a MICOS complex subunit MIC10 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum MICOS complex subunit MIC10 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044683 name: level of tetratricopeptide repeat protein 32 in blood serum def: "The amount of a tetratricopeptide repeat protein 32 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tetratricopeptide repeat protein 32 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044684 name: level of immunoglobulin superfamily DCC subclass member 4 in blood serum def: "The amount of a immunoglobulin superfamily DCC subclass member 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum immunoglobulin superfamily DCC subclass member 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044685 name: level of phospholipid phosphatase 4 in blood serum def: "The amount of a phospholipid phosphatase 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phospholipid phosphatase 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044686 name: level of carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 1 in blood serum def: "The amount of a carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044687 name: level of transmembrane protein 234 in blood serum def: "The amount of a transmembrane protein 234 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transmembrane protein 234 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044688 name: level of protein FAM151A in blood serum def: "The amount of a protein FAM151A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein FAM151A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044689 name: level of 1-acylglycerol-3-phosphate O-acyltransferase ABHD5 in blood serum def: "The amount of a 1-acylglycerol-3-phosphate O-acyltransferase ABHD5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 1-acylglycerol-3-phosphate O-acyltransferase ABHD5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044690 name: level of GTPase IMAP family member 7 in blood serum def: "The amount of a GTPase IMAP family member 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum GTPase IMAP family member 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044691 name: level of BICD family-like cargo adapter 1 in blood serum def: "The amount of a BICD family-like cargo adapter 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum BICD family-like cargo adapter 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044692 name: level of phospholipid transfer protein C2CD2L in blood serum def: "The amount of a phospholipid transfer protein C2CD2L when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phospholipid transfer protein C2CD2L amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044693 name: level of BRCA1-associated ATM activator 1 in blood serum def: "The amount of a BRCA1-associated ATM activator 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum BRCA1-associated ATM activator 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044694 name: level of mitotic-spindle organizing protein 2A in blood serum def: "The amount of a mitotic-spindle organizing protein 2A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mitotic-spindle organizing protein 2A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044695 name: level of DnaJ homolog subfamily C member 11 in blood serum def: "The amount of a DnaJ homolog subfamily C member 11 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DnaJ homolog subfamily C member 11 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044696 name: level of leucine-rich repeat-containing protein 75A in blood serum def: "The amount of a leucine-rich repeat-containing protein 75A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leucine-rich repeat-containing protein 75A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044697 name: level of protein FAM221B in blood serum def: "The amount of a protein FAM221B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein FAM221B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044698 name: level of protein FAM209B in blood serum def: "The amount of a protein FAM209B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein FAM209B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044699 name: level of butyrophilin subfamily 2 member A1 in blood serum def: "The amount of a butyrophilin subfamily 2 member A1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum butyrophilin subfamily 2 member A1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044700 name: level of ankyrin repeat domain-containing protein 16 in blood serum def: "The amount of a ankyrin repeat domain-containing protein 16 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ankyrin repeat domain-containing protein 16 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044701 name: level of butyrophilin subfamily 2 member A2 in blood serum def: "The amount of a butyrophilin subfamily 2 member A2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum butyrophilin subfamily 2 member A2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044702 name: level of SAYSvFN domain-containing protein 1 in blood serum def: "The amount of a SAYSvFN domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SAYSvFN domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044703 name: level of coiled-coil domain-containing protein 115 in blood serum def: "The amount of a coiled-coil domain-containing protein 115 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum coiled-coil domain-containing protein 115 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044704 name: level of integral membrane protein 2B in blood serum def: "The amount of a integral membrane protein 2B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum integral membrane protein 2B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044705 name: level of transmembrane protein 132B in blood serum def: "The amount of a transmembrane protein 132B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transmembrane protein 132B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044706 name: level of a disintegrin and metalloproteinase with thrombospondin motifs 6 in blood serum def: "The amount of a a disintegrin and metalloproteinase with thrombospondin motifs 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum a disintegrin and metalloproteinase with thrombospondin motifs 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044707 name: level of coiled-coil domain-containing protein 103 in blood serum def: "The amount of a coiled-coil domain-containing protein 103 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum coiled-coil domain-containing protein 103 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044708 name: level of mitochondrial potassium channel in blood serum def: "The amount of a mitochondrial potassium channel when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mitochondrial potassium channel amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044709 name: level of protein N-terminal glutamine amidohydrolase in blood serum def: "The amount of a protein N-terminal glutamine amidohydrolase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein N-terminal glutamine amidohydrolase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044710 name: level of kelch-like protein 40 in blood serum def: "The amount of a kelch-like protein 40 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum kelch-like protein 40 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044711 name: level of N-lysine methyltransferase SMYD2 in blood serum def: "The amount of a N-lysine methyltransferase SMYD2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum N-lysine methyltransferase SMYD2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044712 name: level of thiosulfate:glutathione sulfurtransferase in blood serum def: "The amount of a thiosulfate:glutathione sulfurtransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum thiosulfate:glutathione sulfurtransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044713 name: level of protein NDNF in blood serum def: "The amount of a protein NDNF when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein NDNF amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044714 name: level of LIM domain-containing protein 2 in blood serum def: "The amount of a LIM domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum LIM domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044715 name: level of protein FAM204A in blood serum def: "The amount of a protein FAM204A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein FAM204A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044716 name: level of CKLF-like MARVEL transmembrane domain-containing protein 4 in blood serum def: "The amount of a CKLF-like MARVEL transmembrane domain-containing protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CKLF-like MARVEL transmembrane domain-containing protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044717 name: level of diphthine methyltransferase in blood serum def: "The amount of a diphthine methyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum diphthine methyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044718 name: level of protein FAM210A in blood serum def: "The amount of a protein FAM210A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein FAM210A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044719 name: level of BEN domain-containing protein 6 in blood serum def: "The amount of a BEN domain-containing protein 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum BEN domain-containing protein 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044720 name: level of colipase-like protein 1 in blood serum def: "The amount of a colipase-like protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum colipase-like protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044721 name: level of LEM domain-containing protein 1 in blood serum def: "The amount of a LEM domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum LEM domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044722 name: level of coiled-coil domain-containing protein 167 in blood serum def: "The amount of a coiled-coil domain-containing protein 167 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum coiled-coil domain-containing protein 167 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044723 name: level of tetratricopeptide repeat protein 9B in blood serum def: "The amount of a tetratricopeptide repeat protein 9B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tetratricopeptide repeat protein 9B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044724 name: level of butyrophilin subfamily 3 member A3 in blood serum def: "The amount of a butyrophilin subfamily 3 member A3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum butyrophilin subfamily 3 member A3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044725 name: level of protein FAM9B in blood serum def: "The amount of a protein FAM9B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein FAM9B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044726 name: level of VPS10 domain-containing receptor SorCS1 in blood serum def: "The amount of a VPS10 domain-containing receptor SorCS1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum VPS10 domain-containing receptor SorCS1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044727 name: level of quinone oxidoreductase PIG3 in blood serum def: "The amount of a quinone oxidoreductase PIG3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum quinone oxidoreductase PIG3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044728 name: level of protein kish-A in blood serum def: "The amount of a protein kish-A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein kish-A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044729 name: level of protein phosphatase 1 regulatory subunit 42 in blood serum def: "The amount of a protein phosphatase 1 regulatory subunit 42 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein phosphatase 1 regulatory subunit 42 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044730 name: level of NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 in blood serum def: "The amount of a NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044731 name: level of 4-hydroxy-2-oxoglutarate aldolase, mitochondrial in blood serum def: "The amount of a 4-hydroxy-2-oxoglutarate aldolase, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 4-hydroxy-2-oxoglutarate aldolase, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044732 name: level of leucine-rich repeat and fibronectin type-III domain-containing protein 5 in blood serum def: "The amount of a leucine-rich repeat and fibronectin type-III domain-containing protein 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leucine-rich repeat and fibronectin type-III domain-containing protein 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044733 name: level of protein FAM221A in blood serum def: "The amount of a protein FAM221A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein FAM221A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044734 name: level of COMM domain-containing protein 8 in blood serum def: "The amount of a COMM domain-containing protein 8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum COMM domain-containing protein 8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044735 name: level of 5'-nucleotidase domain-containing protein 1 in blood serum def: "The amount of a 5'-nucleotidase domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 5'-nucleotidase domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044736 name: level of calcium uptake protein 3, mitochondrial in blood serum def: "The amount of a calcium uptake protein 3, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum calcium uptake protein 3, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044737 name: level of lysophosphatidylserine lipase ABHD12 in blood serum def: "The amount of a lysophosphatidylserine lipase ABHD12 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lysophosphatidylserine lipase ABHD12 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044738 name: level of chemokine-like protein TAFA-3 in blood serum def: "The amount of a chemokine-like protein TAFA-3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum chemokine-like protein TAFA-3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044739 name: level of MANSC domain-containing protein 1 in blood serum def: "The amount of a MANSC domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum MANSC domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044740 name: level of CBY1-interacting BAR domain-containing protein 1 in blood serum def: "The amount of a CBY1-interacting BAR domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CBY1-interacting BAR domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044741 name: level of probable inactive serine protease 37 in blood serum def: "The amount of a probable inactive serine protease 37 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum probable inactive serine protease 37 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044742 name: level of adenine nucleotide translocase lysine N-methyltransferase in blood serum def: "The amount of a adenine nucleotide translocase lysine N-methyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum adenine nucleotide translocase lysine N-methyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044743 name: level of kelch repeat and BTB domain-containing protein 11 in blood serum def: "The amount of a kelch repeat and BTB domain-containing protein 11 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum kelch repeat and BTB domain-containing protein 11 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044744 name: level of C-type lectin domain family 2 member L in blood serum def: "The amount of a C-type lectin domain family 2 member L when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum C-type lectin domain family 2 member L amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044745 name: level of actin-histidine N-methyltransferase in blood serum def: "The amount of a actin-histidine N-methyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum actin-histidine N-methyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044746 name: level of probable transmembrane reductase CYB561D1 in blood serum def: "The amount of a probable transmembrane reductase CYB561D1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum probable transmembrane reductase CYB561D1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044747 name: level of dysbindin domain-containing protein 1 in blood serum def: "The amount of a dysbindin domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dysbindin domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044748 name: level of LIM domain only protein 3 in blood serum def: "The amount of a LIM domain only protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum LIM domain only protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044749 name: level of synaptonemal complex central element protein 1-like in blood serum def: "The amount of a synaptonemal complex central element protein 1-like when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum synaptonemal complex central element protein 1-like amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044750 name: level of translation machinery-associated protein 16 in blood serum def: "The amount of a translation machinery-associated protein 16 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum translation machinery-associated protein 16 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044751 name: level of GTPase IMAP family member 6 in blood serum def: "The amount of a GTPase IMAP family member 6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum GTPase IMAP family member 6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044752 name: level of probable E3 ubiquitin-protein ligase HERC4 in blood serum def: "The amount of a probable E3 ubiquitin-protein ligase HERC4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum probable E3 ubiquitin-protein ligase HERC4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044753 name: level of fibronectin type 3 and ankyrin repeat domains protein 1 in blood serum def: "The amount of a fibronectin type 3 and ankyrin repeat domains protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum fibronectin type 3 and ankyrin repeat domains protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044754 name: level of low-density lipoprotein receptor class A domain-containing protein 3 in blood serum def: "The amount of a low-density lipoprotein receptor class A domain-containing protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum low-density lipoprotein receptor class A domain-containing protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044755 name: level of muscular LMNA-interacting protein in blood serum def: "The amount of a muscular LMNA-interacting protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum muscular LMNA-interacting protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044756 name: level of CUE domain-containing protein 1 in blood serum def: "The amount of a CUE domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CUE domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044757 name: level of torsin-4A in blood serum def: "The amount of a torsin-4A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum torsin-4A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044758 name: level of acyl-CoA-binding domain-containing protein 7 in blood serum def: "The amount of a acyl-CoA-binding domain-containing protein 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum acyl-CoA-binding domain-containing protein 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044759 name: level of G antigen 12F in blood serum def: "The amount of a G antigen 12F when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum G antigen 12F amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044760 name: level of CST complex subunit TEN1 in blood serum def: "The amount of a CST complex subunit TEN1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum CST complex subunit TEN1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044761 name: level of sesquipedalian-2 in blood serum def: "The amount of a sesquipedalian-2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sesquipedalian-2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044762 name: level of phosphoribosyltransferase domain-containing protein 1 in blood serum def: "The amount of a phosphoribosyltransferase domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphoribosyltransferase domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044763 name: level of MANSC domain-containing protein 4 in blood serum def: "The amount of a MANSC domain-containing protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum MANSC domain-containing protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044764 name: level of nuclear envelope phosphatase-regulatory subunit 1 in blood serum def: "The amount of a nuclear envelope phosphatase-regulatory subunit 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nuclear envelope phosphatase-regulatory subunit 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044765 name: level of coiled-coil domain-containing protein 89 in blood serum def: "The amount of a coiled-coil domain-containing protein 89 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum coiled-coil domain-containing protein 89 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044766 name: level of zona pellucida-like domain-containing protein 1 in blood serum def: "The amount of a zona pellucida-like domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zona pellucida-like domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044767 name: level of chemokine-like protein TAFA-4 in blood serum def: "The amount of a chemokine-like protein TAFA-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum chemokine-like protein TAFA-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044768 name: level of arrestin domain-containing protein 3 in blood serum def: "The amount of a arrestin domain-containing protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum arrestin domain-containing protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044769 name: level of WAP four-disulfide core domain protein 10A in blood serum def: "The amount of a WAP four-disulfide core domain protein 10A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum WAP four-disulfide core domain protein 10A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044770 name: level of acidic leucine-rich nuclear phosphoprotein 32 family member C in blood serum def: "The amount of a acidic leucine-rich nuclear phosphoprotein 32 family member C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum acidic leucine-rich nuclear phosphoprotein 32 family member C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044771 name: level of spermatogenesis-associated protein 24 in blood serum def: "The amount of a spermatogenesis-associated protein 24 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum spermatogenesis-associated protein 24 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044772 name: level of BTB/POZ domain-containing protein KCTD17 in blood serum def: "The amount of a BTB/POZ domain-containing protein KCTD17 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum BTB/POZ domain-containing protein KCTD17 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044773 name: level of transmembrane protein 52B in blood serum def: "The amount of a transmembrane protein 52B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transmembrane protein 52B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044774 name: level of V-set and immunoglobulin domain-containing protein 2 in blood serum def: "The amount of a V-set and immunoglobulin domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum V-set and immunoglobulin domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044775 name: level of pepsin A-4 in blood serum def: "The amount of a pepsin A-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pepsin A-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044776 name: level of lysophospholipase D GDPD1 in blood serum def: "The amount of a lysophospholipase D GDPD1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lysophospholipase D GDPD1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044777 name: level of integral membrane protein 2A in blood serum def: "The amount of a integral membrane protein 2A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum integral membrane protein 2A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044778 name: level of motile sperm domain-containing protein 1 in blood serum def: "The amount of a motile sperm domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum motile sperm domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044779 name: level of IQ domain-containing protein F3 in blood serum def: "The amount of a IQ domain-containing protein F3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum IQ domain-containing protein F3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044780 name: level of EMI domain-containing protein 1 in blood serum def: "The amount of a EMI domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum EMI domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044781 name: level of protein Aster-C in blood serum def: "The amount of a protein Aster-C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein Aster-C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044782 name: level of sentan in blood serum def: "The amount of a sentan when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sentan amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044783 name: level of Ly6/PLAUR domain-containing protein 1 in blood serum def: "The amount of a Ly6/PLAUR domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ly6/PLAUR domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044784 name: level of epididymal secretory protein E3-alpha in blood serum def: "The amount of a epididymal secretory protein E3-alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum epididymal secretory protein E3-alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044785 name: level of ATP-dependent RNA helicase DHX58 in blood serum def: "The amount of a ATP-dependent RNA helicase DHX58 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ATP-dependent RNA helicase DHX58 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044786 name: level of leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 2 in blood serum def: "The amount of a leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044787 name: level of ALK and LTK ligand 2 in blood serum def: "The amount of a ALK and LTK ligand 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ALK and LTK ligand 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044788 name: level of glycolipid transfer protein domain-containing protein 2 in blood serum def: "The amount of a glycolipid transfer protein domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glycolipid transfer protein domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044789 name: level of serine protease inhibitor Kazal-type 14 in blood serum def: "The amount of a serine protease inhibitor Kazal-type 14 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine protease inhibitor Kazal-type 14 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044790 name: level of sulfotransferase 1E1 in blood serum def: "The amount of a sulfotransferase 1E1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sulfotransferase 1E1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044791 name: level of tetratricopeptide repeat protein 9A in blood serum def: "The amount of a tetratricopeptide repeat protein 9A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tetratricopeptide repeat protein 9A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044792 name: level of arginine-hydroxylase NDUFAF5, mitochondrial in blood serum def: "The amount of a arginine-hydroxylase NDUFAF5, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum arginine-hydroxylase NDUFAF5, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044793 name: level of protein shisa-like-2A in blood serum def: "The amount of a protein shisa-like-2A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein shisa-like-2A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044794 name: level of neuferricin in blood serum def: "The amount of a neuferricin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neuferricin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044795 name: level of fibrinogen C domain-containing protein 1 in blood serum def: "The amount of a fibrinogen C domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum fibrinogen C domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044796 name: level of TraB domain-containing protein in blood serum def: "The amount of a TraB domain-containing protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum TraB domain-containing protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044797 name: level of tRNA wybutosine-synthesizing protein 5 in blood serum def: "The amount of a tRNA wybutosine-synthesizing protein 5 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tRNA wybutosine-synthesizing protein 5 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044798 name: level of DnaJ homolog subfamily C member 18 in blood serum def: "The amount of a DnaJ homolog subfamily C member 18 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DnaJ homolog subfamily C member 18 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044799 name: level of low-density lipoprotein receptor class A domain-containing protein 4 in blood serum def: "The amount of a low-density lipoprotein receptor class A domain-containing protein 4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum low-density lipoprotein receptor class A domain-containing protein 4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044800 name: level of protein C14orf166 in blood serum def: "The amount of a protein C14orf166 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein C14orf166 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044801 name: level of neurexin-2-beta in blood serum def: "The amount of a neurexin-2-beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neurexin-2-beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044802 name: level of neurexin-3-alpha in blood serum def: "The amount of a neurexin-3-alpha when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neurexin-3-alpha amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044803 name: level of alpha-amylase 1 in blood serum def: "The amount of a alpha-amylase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum alpha-amylase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044804 name: level of testis-specific chromodomain protein Y 1 in blood serum def: "The amount of a testis-specific chromodomain protein Y 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum testis-specific chromodomain protein Y 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044805 name: level of fructose-2,6-bisphosphatase TIGAR in blood serum def: "The amount of a fructose-2,6-bisphosphatase TIGAR when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum fructose-2,6-bisphosphatase TIGAR amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044806 name: level of protein Hikeshi in blood serum def: "The amount of a protein Hikeshi when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein Hikeshi amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044807 name: level of pregnancy-specific beta-1-glycoprotein 7 in blood serum def: "The amount of a pregnancy-specific beta-1-glycoprotein 7 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum pregnancy-specific beta-1-glycoprotein 7 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044808 name: level of myeloid-derived growth factor in blood serum def: "The amount of a myeloid-derived growth factor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum myeloid-derived growth factor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044809 name: level of hemoglobin subunit beta in blood serum def: "The amount of a hemoglobin subunit beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum hemoglobin subunit beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044810 name: level of spermatogenesis-associated protein 33 in blood serum def: "The amount of a spermatogenesis-associated protein 33 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum spermatogenesis-associated protein 33 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044811 name: level of TLD domain-containing protein 2 in blood serum def: "The amount of a TLD domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum TLD domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044812 name: level of NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8 in blood serum def: "The amount of a NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044813 name: level of glutaredoxin-like protein C5orf63 in blood serum def: "The amount of a glutaredoxin-like protein C5orf63 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum glutaredoxin-like protein C5orf63 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044814 name: level of single-pass membrane and coiled-coil domain-containing protein 2 in blood serum def: "The amount of a single-pass membrane and coiled-coil domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum single-pass membrane and coiled-coil domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044815 name: level of small integral membrane protein 9 in blood serum def: "The amount of a small integral membrane protein 9 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum small integral membrane protein 9 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044816 name: level of cysteine-rich tail protein 1 in blood serum def: "The amount of a cysteine-rich tail protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cysteine-rich tail protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044817 name: level of endosome/lysosome-associated apoptosis and autophagy regulator family member 2 in blood serum def: "The amount of a endosome/lysosome-associated apoptosis and autophagy regulator family member 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum endosome/lysosome-associated apoptosis and autophagy regulator family member 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044818 name: level of protein Frey in blood serum def: "The amount of a protein Frey when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein Frey amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044819 name: level of protein FAM229A in blood serum def: "The amount of a protein FAM229A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein FAM229A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044820 name: level of clustered mitochondria protein homolog in blood serum def: "The amount of a clustered mitochondria protein homolog when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum clustered mitochondria protein homolog amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044821 name: level of small integral membrane protein 24 in blood serum def: "The amount of a small integral membrane protein 24 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum small integral membrane protein 24 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044822 name: level of small integral membrane protein 13 in blood serum def: "The amount of a small integral membrane protein 13 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum small integral membrane protein 13 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044823 name: level of uncharacterized protein C17orf67 in blood serum def: "The amount of a uncharacterized protein C17orf67 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum uncharacterized protein C17orf67 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044824 name: level of leucine-rich repeat-containing protein 74A in blood serum def: "The amount of a leucine-rich repeat-containing protein 74A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leucine-rich repeat-containing protein 74A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044825 name: level of single-pass membrane and coiled-coil domain-containing protein 1 in blood serum def: "The amount of a single-pass membrane and coiled-coil domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum single-pass membrane and coiled-coil domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044826 name: level of HUWE1-associated protein modifying stress responses in blood serum def: "The amount of a HUWE1-associated protein modifying stress responses when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum HUWE1-associated protein modifying stress responses amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044827 name: level of UPF0561 protein C2orf68 in blood serum def: "The amount of a UPF0561 protein C2orf68 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum UPF0561 protein C2orf68 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044828 name: level of UPF0692 protein C19orf54 in blood serum def: "The amount of a UPF0692 protein C19orf54 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum UPF0692 protein C19orf54 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044829 name: level of spermatogenesis-associated protein 46 in blood serum def: "The amount of a spermatogenesis-associated protein 46 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum spermatogenesis-associated protein 46 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044830 name: level of uncharacterized protein C1orf185 in blood serum def: "The amount of a uncharacterized protein C1orf185 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum uncharacterized protein C1orf185 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044831 name: level of succinate dehydrogenase assembly factor 4, mitochondrial in blood serum def: "The amount of a succinate dehydrogenase assembly factor 4, mitochondrial when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum succinate dehydrogenase assembly factor 4, mitochondrial amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044832 name: level of uncharacterized protein C11orf87 in blood serum def: "The amount of a uncharacterized protein C11orf87 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum uncharacterized protein C11orf87 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044833 name: level of protein LEG1 homolog in blood serum def: "The amount of a protein LEG1 homolog when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein LEG1 homolog amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044834 name: level of uncharacterized protein C5orf46 in blood serum def: "The amount of a uncharacterized protein C5orf46 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum uncharacterized protein C5orf46 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044835 name: level of bombesin receptor-activated protein C6orf89 in blood serum def: "The amount of a bombesin receptor-activated protein C6orf89 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum bombesin receptor-activated protein C6orf89 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044836 name: level of angiopoietin-like protein 8 in blood serum def: "The amount of a angiopoietin-like protein 8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum angiopoietin-like protein 8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044837 name: level of ciliogenesis-associated TTC17-interacting protein in blood serum def: "The amount of a ciliogenesis-associated TTC17-interacting protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ciliogenesis-associated TTC17-interacting protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044838 name: level of protein HID1 in blood serum def: "The amount of a protein HID1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein HID1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044839 name: level of lung adenoma susceptibility protein 2 in blood serum def: "The amount of a lung adenoma susceptibility protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lung adenoma susceptibility protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044840 name: level of uncharacterized protein KIAA2013 in blood serum def: "The amount of a uncharacterized protein KIAA2013 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum uncharacterized protein KIAA2013 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044841 name: level of dynein axonemal assembly factor 8 in blood serum def: "The amount of a dynein axonemal assembly factor 8 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dynein axonemal assembly factor 8 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044842 name: level of uncharacterized protein C2orf73 in blood serum def: "The amount of a uncharacterized protein C2orf73 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum uncharacterized protein C2orf73 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044843 name: level of leucine-rich single-pass membrane protein 1 in blood serum def: "The amount of a leucine-rich single-pass membrane protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum leucine-rich single-pass membrane protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044844 name: level of uncharacterized protein FAM241A in blood serum def: "The amount of a uncharacterized protein FAM241A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum uncharacterized protein FAM241A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044845 name: level of nutritionally-regulated adipose and cardiac enriched protein homolog in blood serum def: "The amount of a nutritionally-regulated adipose and cardiac enriched protein homolog when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nutritionally-regulated adipose and cardiac enriched protein homolog amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044846 name: level of keratinocyte differentiation factor 1 in blood serum def: "The amount of a keratinocyte differentiation factor 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum keratinocyte differentiation factor 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044847 name: level of transmembrane protein C1orf162 in blood serum def: "The amount of a transmembrane protein C1orf162 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transmembrane protein C1orf162 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044848 name: level of telomere repeats-binding bouquet formation protein 2 in blood serum def: "The amount of a telomere repeats-binding bouquet formation protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum telomere repeats-binding bouquet formation protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044849 name: level of uncharacterized protein CXorf38 in blood serum def: "The amount of a uncharacterized protein CXorf38 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum uncharacterized protein CXorf38 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044850 name: level of meiosis 1 arrest protein in blood serum def: "The amount of a meiosis 1 arrest protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum meiosis 1 arrest protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044851 name: level of UPF0729 protein C18orf32 in blood serum def: "The amount of a UPF0729 protein C18orf32 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum UPF0729 protein C18orf32 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044852 name: level of UPF0235 protein C15orf40 in blood serum def: "The amount of a UPF0235 protein C15orf40 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum UPF0235 protein C15orf40 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044853 name: level of uncharacterized protein KIAA1143 in blood serum def: "The amount of a uncharacterized protein KIAA1143 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum uncharacterized protein KIAA1143 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044854 name: level of protein FAM241B in blood serum def: "The amount of a protein FAM241B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein FAM241B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044855 name: level of D-aminoacyl-tRNA deacylase 2 in blood serum def: "The amount of a D-aminoacyl-tRNA deacylase 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum D-aminoacyl-tRNA deacylase 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044856 name: level of fatty acid hydroxylase domain-containing protein 2 in blood serum def: "The amount of a fatty acid hydroxylase domain-containing protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum fatty acid hydroxylase domain-containing protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044857 name: level of uncharacterized protein C4orf36 in blood serum def: "The amount of a uncharacterized protein C4orf36 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum uncharacterized protein C4orf36 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044858 name: level of caspase recruitment domain-containing protein 19 in blood serum def: "The amount of a caspase recruitment domain-containing protein 19 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum caspase recruitment domain-containing protein 19 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044859 name: level of bMERB domain-containing protein 1 in blood serum def: "The amount of a bMERB domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum bMERB domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044860 name: level of protein GUCD1 in blood serum def: "The amount of a protein GUCD1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein GUCD1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044861 name: level of methyltransferase-like 26 in blood serum def: "The amount of a methyltransferase-like 26 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum methyltransferase-like 26 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044862 name: level of U6 snRNA phosphodiesterase in blood serum def: "The amount of a U6 snRNA phosphodiesterase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum U6 snRNA phosphodiesterase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044863 name: level of cytochrome b-245 chaperone 1 in blood serum def: "The amount of a cytochrome b-245 chaperone 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cytochrome b-245 chaperone 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044864 name: level of cilia- and flagella-associated protein 300 in blood serum def: "The amount of a cilia- and flagella-associated protein 300 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cilia- and flagella-associated protein 300 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044865 name: level of arginine/serine-rich protein 1 in blood serum def: "The amount of a arginine/serine-rich protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum arginine/serine-rich protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044866 name: level of uncharacterized protein C1orf50 in blood serum def: "The amount of a uncharacterized protein C1orf50 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum uncharacterized protein C1orf50 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044867 name: level of UPF0193 protein EVG1 in blood serum def: "The amount of a UPF0193 protein EVG1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum UPF0193 protein EVG1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044868 name: level of small integral membrane protein 3 in blood serum def: "The amount of a small integral membrane protein 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum small integral membrane protein 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044869 name: level of speriolin-like protein in blood serum def: "The amount of a speriolin-like protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum speriolin-like protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044870 name: level of augurin in blood serum def: "The amount of a augurin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum augurin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044871 name: level of UPF0696 protein C11orf68 in blood serum def: "The amount of a UPF0696 protein C11orf68 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum UPF0696 protein C11orf68 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044872 name: level of mitochondrial translation release factor in rescue in blood serum def: "The amount of a mitochondrial translation release factor in rescue when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum mitochondrial translation release factor in rescue amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044873 name: level of uncharacterized protein C1orf198 in blood serum def: "The amount of a uncharacterized protein C1orf198 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum uncharacterized protein C1orf198 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044874 name: level of centriolar satellite-associated tubulin polyglutamylase complex regulator 1 in blood serum def: "The amount of a centriolar satellite-associated tubulin polyglutamylase complex regulator 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum centriolar satellite-associated tubulin polyglutamylase complex regulator 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044875 name: level of Mth938 domain-containing protein in blood serum def: "The amount of a Mth938 domain-containing protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Mth938 domain-containing protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044876 name: level of required for drug-induced death protein 1 in blood serum def: "The amount of a required for drug-induced death protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum required for drug-induced death protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044877 name: level of MYG1 exonuclease in blood serum def: "The amount of a MYG1 exonuclease when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum MYG1 exonuclease amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044878 name: level of SCP2 sterol-binding domain-containing protein 1 in blood serum def: "The amount of a SCP2 sterol-binding domain-containing protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum SCP2 sterol-binding domain-containing protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044879 name: level of uncharacterized protein C3orf18 in blood serum def: "The amount of a uncharacterized protein C3orf18 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum uncharacterized protein C3orf18 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044880 name: level of major intrinsically disordered Notch2-binding receptor 1 in blood serum def: "The amount of a major intrinsically disordered Notch2-binding receptor 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum major intrinsically disordered Notch2-binding receptor 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044881 name: level of trafficking protein particle complex subunit 13 in blood serum def: "The amount of a trafficking protein particle complex subunit 13 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum trafficking protein particle complex subunit 13 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044882 name: level of S-adenosylmethionine sensor upstream of mTORC1 in blood serum def: "The amount of a S-adenosylmethionine sensor upstream of mTORC1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum S-adenosylmethionine sensor upstream of mTORC1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044883 name: level of transmembrane protein C16orf54 in blood serum def: "The amount of a transmembrane protein C16orf54 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transmembrane protein C16orf54 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044884 name: level of dyslexia-associated protein KIAA0319-like protein in blood serum def: "The amount of a dyslexia-associated protein KIAA0319-like protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dyslexia-associated protein KIAA0319-like protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044885 name: level of carnosine N-methyltransferase in blood serum def: "The amount of a carnosine N-methyltransferase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum carnosine N-methyltransferase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044886 name: level of protein MENT in blood serum def: "The amount of a protein MENT when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein MENT amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044887 name: level of uncharacterized protein C19orf84 in blood serum def: "The amount of a uncharacterized protein C19orf84 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum uncharacterized protein C19orf84 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044888 name: level of protein C1orf43 in blood serum def: "The amount of a protein C1orf43 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein C1orf43 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044889 name: level of type III endosome membrane protein TEMP in blood serum def: "The amount of a type III endosome membrane protein TEMP when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum type III endosome membrane protein TEMP amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044890 name: level of putative uncharacterized protein SLC66A1L (human) in blood serum def: "The amount of a putative uncharacterized protein SLC66A1L (human) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum putative uncharacterized protein SLC66A1L (human) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044891 name: level of uncharacterized protein C20orf202 (human) in blood serum def: "The amount of a uncharacterized protein C20orf202 (human) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum uncharacterized protein C20orf202 (human) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044892 name: level of uncharacterized protein C1orf226 (human) in blood serum def: "The amount of a uncharacterized protein C1orf226 (human) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum uncharacterized protein C1orf226 (human) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044893 name: level of short transmembrane mitochondrial protein 1 (human) in blood serum def: "The amount of a short transmembrane mitochondrial protein 1 (human) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum short transmembrane mitochondrial protein 1 (human) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044894 name: level of interferon lambda-4 (human) in blood serum def: "The amount of a interferon lambda-4 (human) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum interferon lambda-4 (human) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044895 name: level of lymphocyte antigen 75 isoform 4 and LY75-CD302 fusion isoforms V34-2/V33-2 (human) in blood serum def: "The amount of a lymphocyte antigen 75 isoform 4 and LY75-CD302 fusion isoforms V34-2/V33-2 (human) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lymphocyte antigen 75 isoform 4 and LY75-CD302 fusion isoforms V34-2/V33-2 (human) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044896 name: level of immunoglobulin kappa variable 1-5 (human) in blood serum def: "The amount of a immunoglobulin kappa variable 1-5 (human) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum immunoglobulin kappa variable 1-5 (human) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044897 name: level of zinc finger CCHC domain-containing protein 18 (human) in blood serum def: "The amount of a zinc finger CCHC domain-containing protein 18 (human) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum zinc finger CCHC domain-containing protein 18 (human) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044898 name: level of transmembrane protein 225B (human) in blood serum def: "The amount of a transmembrane protein 225B (human) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transmembrane protein 225B (human) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044899 name: level of cilia- and flagella-associated protein 298 (human) in blood serum def: "The amount of a cilia- and flagella-associated protein 298 (human) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cilia- and flagella-associated protein 298 (human) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044900 name: level of neutrophil defensin 1 (human) in blood serum def: "The amount of a neutrophil defensin 1 (human) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neutrophil defensin 1 (human) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044901 name: level of neutrophil defensin 3 (human) in blood serum def: "The amount of a neutrophil defensin 3 (human) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum neutrophil defensin 3 (human) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044902 name: level of defensin alpha 5 (human) in blood serum def: "The amount of a defensin alpha 5 (human) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum defensin alpha 5 (human) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044903 name: level of uncharacterized protein KIAA0040 (human) in blood serum def: "The amount of a uncharacterized protein KIAA0040 (human) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum uncharacterized protein KIAA0040 (human) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044904 name: level of TPT1-like protein (human) in blood serum def: "The amount of a TPT1-like protein (human) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum TPT1-like protein (human) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044905 name: level of proline-rich protein 27 (human) in blood serum def: "The amount of a proline-rich protein 27 (human) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum proline-rich protein 27 (human) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044906 name: level of BRICHOS domain-containing protein 5 (human) in blood serum def: "The amount of a BRICHOS domain-containing protein 5 (human) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum BRICHOS domain-containing protein 5 (human) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044907 name: level of uncharacterized protein C2orf66 (human) in blood serum def: "The amount of a uncharacterized protein C2orf66 (human) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum uncharacterized protein C2orf66 (human) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044908 name: level of spermatogenesis-associated protein 31D4 (human) in blood serum def: "The amount of a spermatogenesis-associated protein 31D4 (human) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum spermatogenesis-associated protein 31D4 (human) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044909 name: level of UPF0606 protein KIAA1549L (human) in blood serum def: "The amount of a UPF0606 protein KIAA1549L (human) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum UPF0606 protein KIAA1549L (human) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044910 name: level of regulator of hemoglobinization and erythroid cell expansion protein (human) in blood serum def: "The amount of a regulator of hemoglobinization and erythroid cell expansion protein (human) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum regulator of hemoglobinization and erythroid cell expansion protein (human) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044911 name: level of chromatin complexes subunit BAP18 (human) in blood serum def: "The amount of a chromatin complexes subunit BAP18 (human) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum chromatin complexes subunit BAP18 (human) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044912 name: level of uncharacterized protein C12orf76 (human) in blood serum def: "The amount of a uncharacterized protein C12orf76 (human) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum uncharacterized protein C12orf76 (human) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044913 name: level of uncharacterized protein C19orf18 (human) in blood serum def: "The amount of a uncharacterized protein C19orf18 (human) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum uncharacterized protein C19orf18 (human) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044914 name: level of protein EOLA1 (human) in blood serum def: "The amount of a protein EOLA1 (human) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum protein EOLA1 (human) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044915 name: level of uncharacterized protein C10orf105 (human) in blood serum def: "The amount of a uncharacterized protein C10orf105 (human) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum uncharacterized protein C10orf105 (human) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044916 name: level of cancer/testis antigen 55 (human) in blood serum def: "The amount of a cancer/testis antigen 55 (human) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cancer/testis antigen 55 (human) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044917 name: level of serine-rich single-pass membrane protein 1 (human) in blood serum def: "The amount of a serine-rich single-pass membrane protein 1 (human) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serine-rich single-pass membrane protein 1 (human) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044918 name: level of uncharacterized protein C22orf15 (human) in blood serum def: "The amount of a uncharacterized protein C22orf15 (human) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum uncharacterized protein C22orf15 (human) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044919 name: level of small integral membrane protein 10 (human) in blood serum def: "The amount of a small integral membrane protein 10 (human) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum small integral membrane protein 10 (human) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044920 name: level of uncharacterized protein C20orf173 (human) in blood serum def: "The amount of a uncharacterized protein C20orf173 (human) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum uncharacterized protein C20orf173 (human) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044925 name: level of angiopoietin-related protein 1 in blood serum def: "The amount of a angiopoietin-related protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum angiopoietin-related protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044927 name: level of DNA-(apurinic or apyrimidinic site) endonuclease in blood serum def: "The amount of a DNA-(apurinic or apyrimidinic site) endonuclease when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum DNA-(apurinic or apyrimidinic site) endonuclease amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044929 name: level of aminopeptidase N in blood serum def: "The amount of a aminopeptidase N when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum aminopeptidase N amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044930 name: level of tyrosine-protein kinase receptor UFO in blood serum def: "The amount of a tyrosine-protein kinase receptor UFO when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tyrosine-protein kinase receptor UFO amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044935 name: level of sialomucin core protein 24 in blood serum def: "The amount of a sialomucin core protein 24 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sialomucin core protein 24 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044936 name: level of T-cell surface glycoprotein CD1c in blood serum def: "The amount of a T-cell surface glycoprotein CD1c when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum T-cell surface glycoprotein CD1c amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044944 name: level of C-type lectin domain family 5 member A in blood serum def: "The amount of a C-type lectin domain family 5 member A when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum C-type lectin domain family 5 member A amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044945 name: level of adipocyte adhesion molecule in blood serum def: "The amount of a adipocyte adhesion molecule when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum adipocyte adhesion molecule amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044948 name: level of collagen alpha-1(I) chain in blood serum def: "The amount of a collagen alpha-1(I) chain when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum collagen alpha-1(I) chain amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044953 name: level of cathepsin H in blood serum def: "The amount of a cathepsin H when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cathepsin H amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044955 name: level of growth-regulated alpha protein in blood serum def: "The amount of a growth-regulated alpha protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum growth-regulated alpha protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044962 name: level of peptidyl-prolyl cis-trans isomerase FKBP4 in blood serum def: "The amount of a peptidyl-prolyl cis-trans isomerase FKBP4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum peptidyl-prolyl cis-trans isomerase FKBP4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044979 name: level of tumor necrosis factor receptor superfamily member 3 in blood serum def: "The amount of a tumor necrosis factor receptor superfamily member 3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tumor necrosis factor receptor superfamily member 3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044981 name: level of multiple coagulation factor deficiency protein 2 in blood serum def: "The amount of a multiple coagulation factor deficiency protein 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum multiple coagulation factor deficiency protein 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044982 name: level of C-C motif chemokine 2 in blood serum def: "The amount of a C-C motif chemokine 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum C-C motif chemokine 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044983 name: level of meprin A subunit beta in blood serum def: "The amount of a meprin A subunit beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum meprin A subunit beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044986 name: level of 72 kDa type IV collagenase in blood serum def: "The amount of a 72 kDa type IV collagenase when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 72 kDa type IV collagenase amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044990 name: level of nodal modulator 1 in blood serum def: "The amount of a nodal modulator 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum nodal modulator 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044993 name: level of phosphoprotein associated with glycosphingolipid-enriched microdomains 1 in blood serum def: "The amount of a phosphoprotein associated with glycosphingolipid-enriched microdomains 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphoprotein associated with glycosphingolipid-enriched microdomains 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044994 name: level of poly [ADP-ribose] polymerase 1 in blood serum def: "The amount of a poly [ADP-ribose] polymerase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum poly [ADP-ribose] polymerase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044996 name: level of paired immunoglobulin-like type 2 receptor beta in blood serum def: "The amount of a paired immunoglobulin-like type 2 receptor beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum paired immunoglobulin-like type 2 receptor beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2044998 name: level of serum paraoxonase/arylesterase 1 in blood serum def: "The amount of a serum paraoxonase/arylesterase 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serum paraoxonase/arylesterase 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount relationship: characteristic_of PR:000013021 ! serum paraoxonase/arylesterase 1 [Term] id: OBA:2045000 name: level of prolargin in blood serum def: "The amount of a prolargin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum prolargin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045003 name: level of advanced glycosylation end product-specific receptor in blood serum def: "The amount of a advanced glycosylation end product-specific receptor when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum advanced glycosylation end product-specific receptor amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045004 name: level of secretoglobin family 3A member 2 in blood serum def: "The amount of a secretoglobin family 3A member 2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum secretoglobin family 3A member 2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045005 name: level of syndecan-4 in blood serum def: "The amount of a syndecan-4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum syndecan-4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045006 name: level of semaphorin-3F in blood serum def: "The amount of a semaphorin-3F when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum semaphorin-3F amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045007 name: level of serpin A12 in blood serum def: "The amount of a serpin A12 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serpin A12 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045008 name: level of serpin B6 in blood serum def: "The amount of a serpin B6 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum serpin B6 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045013 name: level of scavenger receptor cysteine-rich domain-containing group B protein in blood serum def: "The amount of a scavenger receptor cysteine-rich domain-containing group B protein when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum scavenger receptor cysteine-rich domain-containing group B protein amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045021 name: level of tumor necrosis factor receptor superfamily member 10C in blood serum def: "The amount of a tumor necrosis factor receptor superfamily member 10C when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum tumor necrosis factor receptor superfamily member 10C amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045022 name: level of transferrin receptor protein 1 in blood serum def: "The amount of a transferrin receptor protein 1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum transferrin receptor protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045023 name: level of thyrotropin subunit beta in blood serum def: "The amount of a thyrotropin subunit beta when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum thyrotropin subunit beta amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045028 name: level of lymphotactin in blood serum def: "The amount of a lymphotactin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum lymphotactin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045029 name: level of ceramide in blood serum def: "The amount of a ceramide when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ceramide amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2040177 ! level of ceramide [Term] id: OBA:2045030 name: level of diglyceride in blood serum def: "The amount of a diglyceride when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum diglyceride amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2040178 ! level of diglyceride [Term] id: OBA:2045031 name: level of phosphatidylcholine in blood serum def: "The amount of a phosphatidylcholine when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphatidylcholine amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2040179 ! level of phosphatidylcholine [Term] id: OBA:2045032 name: level of phosphatidylethanolamine in blood serum def: "The amount of a phosphatidylethanolamine when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphatidylethanolamine amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2040180 ! level of phosphatidylethanolamine [Term] id: OBA:2045033 name: level of phosphatidylinositol in blood serum def: "The amount of a phosphatidylinositol when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphatidylinositol amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2040181 ! level of phosphatidylinositol [Term] id: OBA:2045034 name: level of sphingomyelin in blood serum def: "The amount of a sphingomyelin when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum sphingomyelin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2040182 ! level of sphingomyelin [Term] id: OBA:2045035 name: level of triglyceride in blood serum def: "The amount of a triglyceride when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum triglyceride amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2040183 ! level of triglyceride [Term] id: OBA:2045036 name: level of N-stearoyltaurine in blood serum def: "The amount of a N-stearoyltaurine when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum N-stearoyltaurine amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045037 name: level of (5Z,7E)-(3S)-26,26,26-trifluoro-27-nor-9,10-seco-5,7,10(19)-cholestatriene-3,25-diol in blood serum def: "The amount of a (5Z,7E)-(3S)-26,26,26-trifluoro-27-nor-9,10-seco-5,7,10(19)-cholestatriene-3,25-diol when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum (5Z,7E)-(3S)-26,26,26-trifluoro-27-nor-9,10-seco-5,7,10(19)-cholestatriene-3,25-diol amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045038 name: level of 1-(8-[3]-ladderane-octanoyl)-2-(8-[3]-ladderane-octanyl)-sn-glycerol in blood serum def: "The amount of a 1-(8-[3]-ladderane-octanoyl)-2-(8-[3]-ladderane-octanyl)-sn-glycerol when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 1-(8-[3]-ladderane-octanoyl)-2-(8-[3]-ladderane-octanyl)-sn-glycerol amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045039 name: level of campesterol 3-beta-D-glucoside in blood serum def: "The amount of a campesterol 3-beta-D-glucoside when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum campesterol 3-beta-D-glucoside amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045040 name: level of palmitoleamide in blood serum def: "The amount of a palmitoleamide when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum palmitoleamide amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045041 name: level of 1-O-alpha-D-Glucopyranosyl-1,2-nonadecandiol in blood serum def: "The amount of a 1-O-alpha-D-Glucopyranosyl-1,2-nonadecandiol when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 1-O-alpha-D-Glucopyranosyl-1,2-nonadecandiol amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045042 name: level of Margaroyl-EA in blood serum def: "The amount of a Margaroyl-EA when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Margaroyl-EA amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045043 name: level of N-(3E-hexadecenoyl)-deoxysphing-4-enine-1-sulfonate in blood serum def: "The amount of a N-(3E-hexadecenoyl)-deoxysphing-4-enine-1-sulfonate when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum N-(3E-hexadecenoyl)-deoxysphing-4-enine-1-sulfonate amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045044 name: level of (4E,8E,10E-d18:3)sphingosine in blood serum def: "The amount of a (4E,8E,10E-d18:3)sphingosine when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum (4E,8E,10E-d18:3)sphingosine amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045045 name: level of PS(O-20:0/22:4(7Z,10Z,13Z,16Z)) in blood serum def: "The amount of a PS(O-20:0/22:4(7Z,10Z,13Z,16Z)) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PS(O-20:0/22:4(7Z,10Z,13Z,16Z)) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045046 name: level of PC(19:3(10Z,13Z,16Z)/0:0) in blood serum def: "The amount of a PC(19:3(10Z,13Z,16Z)/0:0) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PC(19:3(10Z,13Z,16Z)/0:0) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045047 name: level of PS(O-20:0/22:6(4Z,7Z,10Z,13Z,16Z,19Z)) in blood serum def: "The amount of a PS(O-20:0/22:6(4Z,7Z,10Z,13Z,16Z,19Z)) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PS(O-20:0/22:6(4Z,7Z,10Z,13Z,16Z,19Z)) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045048 name: level of 5-hydroperoxy-7-[3,5-epidioxy-2-(2-octenyl)-cyclopentyl]-6-heptenoic acid in blood serum def: "The amount of a 5-hydroperoxy-7-[3,5-epidioxy-2-(2-octenyl)-cyclopentyl]-6-heptenoic acid when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 5-hydroperoxy-7-[3,5-epidioxy-2-(2-octenyl)-cyclopentyl]-6-heptenoic acid amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045049 name: level of Sphingofungin B in blood serum def: "The amount of a Sphingofungin B when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Sphingofungin B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045050 name: level of N-linolenoyl glutamine in blood serum def: "The amount of a N-linolenoyl glutamine when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum N-linolenoyl glutamine amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045051 name: level of Ipurolic acid in blood serum def: "The amount of a Ipurolic acid when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Ipurolic acid amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045052 name: level of dialkylglycerol in blood serum def: "The amount of a dialkylglycerol when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum dialkylglycerol amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045053 name: level of 12-aminododecanoic acid in blood serum def: "The amount of a 12-aminododecanoic acid when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 12-aminododecanoic acid amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045054 name: level of 25-hydroxycholesterol in blood serum def: "The amount of a 25-hydroxycholesterol when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 25-hydroxycholesterol amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045055 name: level of 1-O-oleoyl-sn-glycero-3-phosphoserine in blood serum def: "The amount of a 1-O-oleoyl-sn-glycero-3-phosphoserine when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 1-O-oleoyl-sn-glycero-3-phosphoserine amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045056 name: level of (E)-isoheptadec-2-enoyl-CoA in blood serum def: "The amount of a (E)-isoheptadec-2-enoyl-CoA when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum (E)-isoheptadec-2-enoyl-CoA amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045057 name: level of ceramide phosphoethanolamine in blood serum def: "The amount of a ceramide phosphoethanolamine when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum ceramide phosphoethanolamine amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045058 name: level of N-gondoylethanolamine in blood serum def: "The amount of a N-gondoylethanolamine when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum N-gondoylethanolamine amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045059 name: level of 1-(5Z,8Z,11Z,14Z,17Z-eicosapentaenoyl)-sn-glycero-3-phospho-1D-myo-inositol in blood serum def: "The amount of a 1-(5Z,8Z,11Z,14Z,17Z-eicosapentaenoyl)-sn-glycero-3-phospho-1D-myo-inositol when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 1-(5Z,8Z,11Z,14Z,17Z-eicosapentaenoyl)-sn-glycero-3-phospho-1D-myo-inositol amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045060 name: level of 1-O-(1Z-eicosenyl)-sn-glycero-3-phospho-1D-myo-inositol in blood serum def: "The amount of a 1-O-(1Z-eicosenyl)-sn-glycero-3-phospho-1D-myo-inositol when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum 1-O-(1Z-eicosenyl)-sn-glycero-3-phospho-1D-myo-inositol amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045061 name: level of Phosphatidylcholine (14:0_16:0) in blood serum def: "The amount of a phosphatidylcholine 14:0_16:0 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphatidylcholine 14:0_16:0 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2045031 ! level of phosphatidylcholine in blood serum [Term] id: OBA:2045062 name: level of Phosphatidylcholine (14:0_18:1) in blood serum def: "The amount of a PC(14:0_18:1) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PC(14:0_18:1) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2045031 ! level of phosphatidylcholine in blood serum [Term] id: OBA:2045063 name: level of Phosphatidylcholine (14:0_18:2) in blood serum def: "The amount of a Phosphatidylcholine (14:0_18:2) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (14:0_18:2) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045064 name: level of Phosphatidylcholine (15:0_18:1) in blood serum def: "The amount of a Phosphatidylcholine (15:0_18:1) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (15:0_18:1) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045065 name: level of Phosphatidylcholine (15:0_18:2) in blood serum def: "The amount of a PC(15:0_18:2) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PC(15:0_18:2) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2045031 ! level of phosphatidylcholine in blood serum [Term] id: OBA:2045066 name: level of Phosphatidylcholine (16:0_0:0) in blood serum def: "The amount of a Phosphatidylcholine (16:0_0:0) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (16:0_0:0) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045067 name: level of Phosphatidylcholine (16:0_16:0) in blood serum def: "The amount of a phosphatidylcholine 16:0_16:0 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphatidylcholine 16:0_16:0 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2045031 ! level of phosphatidylcholine in blood serum [Term] id: OBA:2045068 name: level of Phosphatidylcholine (16:0_16:1) in blood serum def: "The amount of a PC(16:0_16:1) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PC(16:0_16:1) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2045031 ! level of phosphatidylcholine in blood serum [Term] id: OBA:2045069 name: level of Phosphatidylcholine (16:0_18:0) in blood serum def: "The amount of a phosphatidylcholine 16:0_18:0 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphatidylcholine 16:0_18:0 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2045031 ! level of phosphatidylcholine in blood serum [Term] id: OBA:2045070 name: level of Phosphatidylcholine (16:0_18:1) in blood serum def: "The amount of a PC(16:0_18:1) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PC(16:0_18:1) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2045031 ! level of phosphatidylcholine in blood serum [Term] id: OBA:2045071 name: level of Phosphatidylcholine (16:0_18:2) in blood serum def: "The amount of a Phosphatidylcholine (16:0_18:2) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (16:0_18:2) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045072 name: level of Phosphatidylcholine (16:0_18:3) in blood serum def: "The amount of a Phosphatidylcholine (16:0_18:3) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (16:0_18:3) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045073 name: level of Phosphatidylcholine (16:0_20:1) in blood serum def: "The amount of a Phosphatidylcholine (16:0_20:1) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (16:0_20:1) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045074 name: level of Phosphatidylcholine (16:0_20:2) in blood serum def: "The amount of a Phosphatidylcholine (16:0_20:2) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (16:0_20:2) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045075 name: level of Phosphatidylcholine (16:0_20:3) in blood serum def: "The amount of a Phosphatidylcholine (16:0_20:3) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (16:0_20:3) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045076 name: level of Phosphatidylcholine (16:0_20:4) in blood serum def: "The amount of a PC(16:0_20:4) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PC(16:0_20:4) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2045031 ! level of phosphatidylcholine in blood serum [Term] id: OBA:2045077 name: level of Phosphatidylcholine (16:0_20:5) in blood serum def: "The amount of a Phosphatidylcholine (16:0_20:5) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (16:0_20:5) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045078 name: level of Phosphatidylcholine (16:0_22:4) in blood serum def: "The amount of a PC(16:0_22:4) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PC(16:0_22:4) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2045031 ! level of phosphatidylcholine in blood serum [Term] id: OBA:2045079 name: level of Phosphatidylcholine (16:0_22:5) in blood serum def: "The amount of a Phosphatidylcholine (16:0_22:5) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (16:0_22:5) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045080 name: level of Phosphatidylcholine (16:0_22:6) in blood serum def: "The amount of a Phosphatidylcholine (16:0_22:6) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (16:0_22:6) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045081 name: level of Phosphatidylcholine (16:1_18:0) in blood serum def: "The amount of a Phosphatidylcholine (16:1_18:0) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (16:1_18:0) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045082 name: level of Phosphatidylcholine (16:1_18:1) in blood serum def: "The amount of a PC(16:1_18:1) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PC(16:1_18:1) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2045031 ! level of phosphatidylcholine in blood serum [Term] id: OBA:2045083 name: level of Phosphatidylcholine (16:1_18:2) in blood serum def: "The amount of a Phosphatidylcholine (16:1_18:2) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (16:1_18:2) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045084 name: level of Phosphatidylcholine (16:1_20:4) in blood serum def: "The amount of a Phosphatidylcholine (16:1_20:4) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (16:1_20:4) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045085 name: level of Phosphatidylcholine (17:0_18:1) in blood serum def: "The amount of a PC(17:0_18:1) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PC(17:0_18:1) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2045031 ! level of phosphatidylcholine in blood serum [Term] id: OBA:2045086 name: level of Phosphatidylcholine (17:0_18:2) in blood serum def: "The amount of a PC(17:0_18:2) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PC(17:0_18:2) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2045031 ! level of phosphatidylcholine in blood serum [Term] id: OBA:2045087 name: level of Phosphatidylcholine (17:0_20:4) in blood serum def: "The amount of a PC(17:0_20:4) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PC(17:0_20:4) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2045031 ! level of phosphatidylcholine in blood serum [Term] id: OBA:2045088 name: level of Phosphatidylcholine (18:0_0:0) in blood serum def: "The amount of a Phosphatidylcholine (18:0_0:0) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (18:0_0:0) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045089 name: level of Phosphatidylcholine (18:0_18:1) in blood serum def: "The amount of a PC(18:0_18:1) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PC(18:0_18:1) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2045031 ! level of phosphatidylcholine in blood serum [Term] id: OBA:2045090 name: level of Phosphatidylcholine (18:0_18:2) in blood serum def: "The amount of a Phosphatidylcholine (18:0_18:2) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (18:0_18:2) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045091 name: level of Phosphatidylcholine (18:0_18:3) in blood serum def: "The amount of a Phosphatidylcholine (18:0_18:3) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (18:0_18:3) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045092 name: level of Phosphatidylcholine (18:0_20:2) in blood serum def: "The amount of a Phosphatidylcholine (18:0_20:2) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (18:0_20:2) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045093 name: level of Phosphatidylcholine (18:0_20:3) in blood serum def: "The amount of a Phosphatidylcholine (18:0_20:3) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (18:0_20:3) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045094 name: level of Phosphatidylcholine (18:0_20:4) in blood serum def: "The amount of a PC(18:0_20:4) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PC(18:0_20:4) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2045031 ! level of phosphatidylcholine in blood serum [Term] id: OBA:2045095 name: level of Phosphatidylcholine (18:0_20:5) in blood serum def: "The amount of a Phosphatidylcholine (18:0_20:5) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (18:0_20:5) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045096 name: level of Phosphatidylcholine (18:0_22:5) in blood serum def: "The amount of a Phosphatidylcholine (18:0_22:5) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (18:0_22:5) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045097 name: level of Phosphatidylcholine (18:0_22:6) in blood serum def: "The amount of a Phosphatidylcholine (18:0_22:6) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (18:0_22:6) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045098 name: level of Phosphatidylcholine (18:1_0:0) in blood serum def: "The amount of a Phosphatidylcholine (18:1_0:0) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (18:1_0:0) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045099 name: level of Phosphatidylcholine (18:1_18:1) in blood serum def: "The amount of a PC(18:1_18:1) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PC(18:1_18:1) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2045031 ! level of phosphatidylcholine in blood serum [Term] id: OBA:2045100 name: level of Phosphatidylcholine (18:1_18:2) in blood serum def: "The amount of a Phosphatidylcholine (18:1_18:2) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (18:1_18:2) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045101 name: level of Phosphatidylcholine (18:1_18:3) in blood serum def: "The amount of a Phosphatidylcholine (18:1_18:3) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (18:1_18:3) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045102 name: level of Phosphatidylcholine (18:1_20:2) in blood serum def: "The amount of a Phosphatidylcholine (18:1_20:2) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (18:1_20:2) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045103 name: level of Phosphatidylcholine (18:1_20:3) in blood serum def: "The amount of a Phosphatidylcholine (18:1_20:3) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (18:1_20:3) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045104 name: level of Phosphatidylcholine (18:1_20:4) in blood serum def: "The amount of a PC(18:1_20:4) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PC(18:1_20:4) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2045031 ! level of phosphatidylcholine in blood serum [Term] id: OBA:2045105 name: level of Phosphatidylcholine (18:2_0:0) in blood serum def: "The amount of a Phosphatidylcholine (18:2_0:0) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (18:2_0:0) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045106 name: level of Phosphatidylcholine (18:2_18:2) in blood serum def: "The amount of a Phosphatidylcholine (18:2_18:2) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (18:2_18:2) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045107 name: level of Phosphatidylcholine (18:2_20:1) in blood serum def: "The amount of a Phosphatidylcholine (18:2_20:1) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (18:2_20:1) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045108 name: level of Phosphatidylcholine (18:2_20:3) in blood serum def: "The amount of a Phosphatidylcholine (18:2_20:3) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (18:2_20:3) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045109 name: level of Phosphatidylcholine (18:2_20:4) in blood serum def: "The amount of a Phosphatidylcholine (18:2_20:4) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (18:2_20:4) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045110 name: level of Phosphatidylcholine (20:4_0:0) in blood serum def: "The amount of a Phosphatidylcholine (20:4_0:0) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (20:4_0:0) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045111 name: level of Phosphatidylcholine (O-16:0_16:0) in blood serum def: "The amount of a Phosphatidylcholine (O-16:0_16:0) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (O-16:0_16:0) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045112 name: level of Phosphatidylcholine (O-16:0_16:1) in blood serum def: "The amount of a phosphatidylcholine O-16:0_16:1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphatidylcholine O-16:0_16:1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045113 name: level of Phosphatidylcholine (O-16:0_18:1) in blood serum def: "The amount of a Phosphatidylcholine (O-16:0_18:1) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (O-16:0_18:1) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045114 name: level of Phosphatidylcholine (O-16:0_18:2) in blood serum def: "The amount of a Phosphatidylcholine (O-16:0_18:2) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (O-16:0_18:2) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045115 name: level of Phosphatidylcholine (O-16:0_20:3) in blood serum def: "The amount of a Phosphatidylcholine (O-16:0_20:3) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (O-16:0_20:3) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045116 name: level of Phosphatidylcholine (O-16:0_20:4) in blood serum def: "The amount of a phosphatidylcholine O-16:0_20:4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphatidylcholine O-16:0_20:4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045117 name: level of Phosphatidylcholine (O-16:0_22:5) in blood serum def: "The amount of a Phosphatidylcholine (O-16:0_22:5) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (O-16:0_22:5) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045118 name: level of Phosphatidylcholine (O-16:1_16:0) in blood serum def: "The amount of a Phosphatidylcholine (O-16:1_16:0) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (O-16:1_16:0) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045119 name: level of Phosphatidylcholine (O-16:1_18:0) in blood serum def: "The amount of a Phosphatidylcholine (O-16:1_18:0) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (O-16:1_18:0) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045120 name: level of Phosphatidylcholine (O-16:1_18:1) in blood serum def: "The amount of a phosphatidylcholine O-16:1_18:1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphatidylcholine O-16:1_18:1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045121 name: level of Phosphatidylcholine (O-16:1_18:2) in blood serum def: "The amount of a Phosphatidylcholine (O-16:1_18:2) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (O-16:1_18:2) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045122 name: level of Phosphatidylcholine (O-16:1_20:3) in blood serum def: "The amount of a Phosphatidylcholine (O-16:1_20:3) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (O-16:1_20:3) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045123 name: level of Phosphatidylcholine (O-16:1_20:4) in blood serum def: "The amount of a Phosphatidylcholine (O-16:1_20:4) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (O-16:1_20:4) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045124 name: level of Phosphatidylcholine (O-17:0_15:0) in blood serum def: "The amount of a Phosphatidylcholine (O-17:0_15:0) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (O-17:0_15:0) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045125 name: level of Phosphatidylcholine (O-18:0_14:0) in blood serum def: "The amount of a Phosphatidylcholine (O-18:0_14:0) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (O-18:0_14:0) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045126 name: level of Phosphatidylcholine (O-18:0_16:1) in blood serum def: "The amount of a Phosphatidylcholine (O-18:0_16:1) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (O-18:0_16:1) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045127 name: level of Phosphatidylcholine (O-18:0_20:4) in blood serum def: "The amount of a Phosphatidylcholine (O-18:0_20:4) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (O-18:0_20:4) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045128 name: level of Phosphatidylcholine (O-18:1_16:0) in blood serum def: "The amount of a phosphatidylcholine O-18:1_16:0 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphatidylcholine O-18:1_16:0 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045129 name: level of Phosphatidylcholine (O-18:1_18:2) in blood serum def: "The amount of a Phosphatidylcholine (O-18:1_18:2) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (O-18:1_18:2) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045130 name: level of Phosphatidylcholine (O-18:1_20:3) in blood serum def: "The amount of a Phosphatidylcholine (O-18:1_20:3) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (O-18:1_20:3) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045131 name: level of Phosphatidylcholine (O-18:1_20:4) in blood serum def: "The amount of a Phosphatidylcholine (O-18:1_20:4) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (O-18:1_20:4) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045132 name: level of Phosphatidylcholine (O-18:2_16:0) in blood serum def: "The amount of a Phosphatidylcholine (O-18:2_16:0) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (O-18:2_16:0) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045133 name: level of Phosphatidylcholine (O-18:2_18:1) in blood serum def: "The amount of a Phosphatidylcholine (O-18:2_18:1) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (O-18:2_18:1) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045134 name: level of Phosphatidylcholine (O-18:2_18:2) in blood serum def: "The amount of a Phosphatidylcholine (O-18:2_18:2) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (O-18:2_18:2) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045135 name: level of Phosphatidylcholine (O-18:2_20:4) in blood serum def: "The amount of a Phosphatidylcholine (O-18:2_20:4) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylcholine (O-18:2_20:4) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045136 name: level of Phosphatidylethanolamine (16:0_18:2) in blood serum def: "The amount of a Phosphatidylethanolamine (16:0_18:2) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylethanolamine (16:0_18:2) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045137 name: level of Phosphatidylethanolamine (16:0_20:4) in blood serum def: "The amount of a PE(16:0_20:4) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PE(16:0_20:4) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2045032 ! level of phosphatidylethanolamine in blood serum [Term] id: OBA:2045138 name: level of Phosphatidylethanolamine (18:0_0:0) in blood serum def: "The amount of a Phosphatidylethanolamine (18:0_0:0) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylethanolamine (18:0_0:0) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045139 name: level of Phosphatidylethanolamine (18:0_18:2) in blood serum def: "The amount of a Phosphatidylethanolamine (18:0_18:2) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylethanolamine (18:0_18:2) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045140 name: level of Phosphatidylethanolamine (18:0_20:4) in blood serum def: "The amount of a PE(18:0_20:4) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PE(18:0_20:4) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2045032 ! level of phosphatidylethanolamine in blood serum [Term] id: OBA:2045141 name: level of Phosphatidylethanolamine (18:1_0:0) in blood serum def: "The amount of a Phosphatidylethanolamine (18:1_0:0) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylethanolamine (18:1_0:0) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045142 name: level of Phosphatidylethanolamine (18:1_18:1) in blood serum def: "The amount of a PE(18:1_18:1) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PE(18:1_18:1) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2045032 ! level of phosphatidylethanolamine in blood serum [Term] id: OBA:2045143 name: level of Phosphatidylethanolamine (18:2_0:0) in blood serum def: "The amount of a Phosphatidylethanolamine (18:2_0:0) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylethanolamine (18:2_0:0) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045144 name: level of Phosphatidylethanolamine (O-16:1_18:2) in blood serum def: "The amount of a phosphatidylethanolamine O-16:1_18:2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphatidylethanolamine O-16:1_18:2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045145 name: level of Phosphatidylethanolamine (O-16:1_20:4) in blood serum def: "The amount of a phosphatidylethanolamine O-16:1_20:4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphatidylethanolamine O-16:1_20:4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045146 name: level of Phosphatidylethanolamine (O-16:1_22:5) in blood serum def: "The amount of a Phosphatidylethanolamine (O-16:1_22:5) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylethanolamine (O-16:1_22:5) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045147 name: level of Phosphatidylethanolamine (O-18:1_18:2) in blood serum def: "The amount of a Phosphatidylethanolamine (O-18:1_18:2) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylethanolamine (O-18:1_18:2) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045148 name: level of Phosphatidylethanolamine (O-18:1_20:4) in blood serum def: "The amount of a phosphatidylethanolamine O-18:1_20:4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphatidylethanolamine O-18:1_20:4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045149 name: level of Phosphatidylethanolamine (O-18:2_18:1) in blood serum def: "The amount of a Phosphatidylethanolamine (O-18:2_18:1) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylethanolamine (O-18:2_18:1) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045150 name: level of Phosphatidylethanolamine (O-18:2_18:2) in blood serum def: "The amount of a phosphatidylethanolamine O-18:2_18:2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphatidylethanolamine O-18:2_18:2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045151 name: level of Phosphatidylethanolamine (O-18:2_20:4) in blood serum def: "The amount of a phosphatidylethanolamine O-18:2_20:4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphatidylethanolamine O-18:2_20:4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045152 name: level of Phosphatidylinositol (16:0_18:1) in blood serum def: "The amount of a phosphatidylinositol 16:0_18:1 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum phosphatidylinositol 16:0_18:1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2045033 ! level of phosphatidylinositol in blood serum [Term] id: OBA:2045153 name: level of Phosphatidylinositol (16:0_18:2) in blood serum def: "The amount of a Phosphatidylinositol (16:0_18:2) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylinositol (16:0_18:2) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045154 name: level of Phosphatidylinositol (16:0_20:4) in blood serum def: "The amount of a PI(16:0_20:4) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PI(16:0_20:4) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2045033 ! level of phosphatidylinositol in blood serum [Term] id: OBA:2045155 name: level of Phosphatidylinositol (18:0_18:1) in blood serum def: "The amount of a PI(18:0_18:1) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PI(18:0_18:1) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2045033 ! level of phosphatidylinositol in blood serum [Term] id: OBA:2045156 name: level of Phosphatidylinositol (18:0_18:2) in blood serum def: "The amount of a Phosphatidylinositol (18:0_18:2) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylinositol (18:0_18:2) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045157 name: level of Phosphatidylinositol (18:0_20:3) in blood serum def: "The amount of a PI(18:0_20:3) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PI(18:0_20:3) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2045033 ! level of phosphatidylinositol in blood serum [Term] id: OBA:2045158 name: level of Phosphatidylinositol (18:0_20:4) in blood serum def: "The amount of a PI(18:0_20:4) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum PI(18:0_20:4) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2045033 ! level of phosphatidylinositol in blood serum [Term] id: OBA:2045159 name: level of Phosphatidylinositol (18:1_18:1) in blood serum def: "The amount of a Phosphatidylinositol (18:1_18:1) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylinositol (18:1_18:1) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045160 name: level of Phosphatidylinositol (18:1_18:2) in blood serum def: "The amount of a Phosphatidylinositol (18:1_18:2) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylinositol (18:1_18:2) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045161 name: level of Phosphatidylinositol (18:1_20:4) in blood serum def: "The amount of a Phosphatidylinositol (18:1_20:4) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Phosphatidylinositol (18:1_20:4) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045162 name: level of Triacylglycerol (49:2) in blood serum def: "The amount of a triacylglycerol 49:2 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum triacylglycerol 49:2 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2045035 ! level of triglyceride in blood serum [Term] id: OBA:2045163 name: level of Triacylglycerol (51:3) in blood serum def: "The amount of a triacylglycerol 51:3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum triacylglycerol 51:3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2045035 ! level of triglyceride in blood serum [Term] id: OBA:2045164 name: level of Triacylglycerol (51:4) in blood serum def: "The amount of a triacylglycerol 51:4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum triacylglycerol 51:4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2045035 ! level of triglyceride in blood serum [Term] id: OBA:2045165 name: level of Triacylglycerol (53:3) in blood serum def: "The amount of a triacylglycerol 53:3 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum triacylglycerol 53:3 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2045035 ! level of triglyceride in blood serum [Term] id: OBA:2045166 name: level of Triacylglycerol (53:4) in blood serum def: "The amount of a triacylglycerol 53:4 when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum triacylglycerol 53:4 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2045035 ! level of triglyceride in blood serum [Term] id: OBA:2045167 name: level of Diacylglycerol (16:0_18:1) in blood serum def: "The amount of a Diacylglycerol (16:0_18:1) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Diacylglycerol (16:0_18:1) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045168 name: level of Diacylglycerol (16:0_18:2) in blood serum def: "The amount of a Diacylglycerol (16:0_18:2) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Diacylglycerol (16:0_18:2) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045169 name: level of Diacylglycerol (16:1_18:1) in blood serum def: "The amount of a Diacylglycerol (16:1_18:1) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Diacylglycerol (16:1_18:1) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045170 name: level of Diacylglycerol (18:1_18:1) in blood serum def: "The amount of a Diacylglycerol (18:1_18:1) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Diacylglycerol (18:1_18:1) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045171 name: level of Diacylglycerol (18:1_18:2) in blood serum def: "The amount of a Diacylglycerol (18:1_18:2) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Diacylglycerol (18:1_18:2) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045172 name: level of Diacylglycerol (18:1_18:3) in blood serum def: "The amount of a Diacylglycerol (18:1_18:3) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Diacylglycerol (18:1_18:3) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045173 name: level of Sphingomyelin (d32:1) in blood serum def: "The amount of a Sphingomyelin (d32:1) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Sphingomyelin (d32:1) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045174 name: level of Sphingomyelin (d34:2) in blood serum def: "The amount of a Sphingomyelin (d34:2) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Sphingomyelin (d34:2) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045175 name: level of Sphingomyelin (d34:1) in blood serum def: "The amount of a Sphingomyelin (d34:1) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Sphingomyelin (d34:1) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045176 name: level of Sphingomyelin (d34:0) in blood serum def: "The amount of a Sphingomyelin (d34:0) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Sphingomyelin (d34:0) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045177 name: level of Sphingomyelin (d36:2) in blood serum def: "The amount of a Sphingomyelin (d36:2) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Sphingomyelin (d36:2) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045178 name: level of Sphingomyelin (d36:1) in blood serum def: "The amount of a Sphingomyelin (d36:1) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Sphingomyelin (d36:1) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045179 name: level of Sphingomyelin (d38:2) in blood serum def: "The amount of a Sphingomyelin (d38:2) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Sphingomyelin (d38:2) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045180 name: level of Sphingomyelin (d38:1) in blood serum def: "The amount of a Sphingomyelin (d38:1) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Sphingomyelin (d38:1) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045181 name: level of Sphingomyelin (d40:2) in blood serum def: "The amount of a Sphingomyelin (d40:2) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Sphingomyelin (d40:2) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045182 name: level of Sphingomyelin (d40:1) in blood serum def: "The amount of a Sphingomyelin (d40:1) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Sphingomyelin (d40:1) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045183 name: level of Sphingomyelin (d42:2) in blood serum def: "The amount of a Sphingomyelin (d42:2) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Sphingomyelin (d42:2) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045184 name: level of Ceramide (d40:2) in blood serum def: "The amount of a Cer(d40:2) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Cer(d40:2) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2045029 ! level of ceramide in blood serum [Term] id: OBA:2045185 name: level of Ceramide (d40:1) in blood serum def: "The amount of a Cer(d40:1) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Cer(d40:1) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2045029 ! level of ceramide in blood serum [Term] id: OBA:2045186 name: level of Ceramide (d42:2) in blood serum def: "The amount of a Cer(d42:2) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Cer(d42:2) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2045029 ! level of ceramide in blood serum [Term] id: OBA:2045187 name: level of Ceramide (d42:1) in blood serum def: "The amount of a Cer(d42:1) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Cer(d42:1) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: OBA:2045029 ! level of ceramide in blood serum [Term] id: OBA:2045188 name: level of Sterol ester (27:1/14:0) in blood serum def: "The amount of a Sterol ester (27:1/14:0) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Sterol ester (27:1/14:0) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045189 name: level of Sterol ester (27:1/15:0) in blood serum def: "The amount of a Sterol ester (27:1/15:0) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Sterol ester (27:1/15:0) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045190 name: level of Sterol ester (27:1/16:1) in blood serum def: "The amount of a Sterol ester (27:1/16:1) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Sterol ester (27:1/16:1) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045191 name: level of Sterol ester (27:1/16:0) in blood serum def: "The amount of a Sterol ester (27:1/16:0) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Sterol ester (27:1/16:0) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045192 name: level of Sterol ester (27:1/17:0) in blood serum def: "The amount of a Sterol ester (27:1/17:0) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Sterol ester (27:1/17:0) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045193 name: level of Sterol ester (27:1/18:3) in blood serum def: "The amount of a Sterol ester (27:1/18:3) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Sterol ester (27:1/18:3) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045194 name: level of Sterol ester (27:1/18:2) in blood serum def: "The amount of a Sterol ester (27:1/18:2) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Sterol ester (27:1/18:2) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045195 name: level of Sterol ester (27:1/18:1) in blood serum def: "The amount of a Sterol ester (27:1/18:1) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Sterol ester (27:1/18:1) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045196 name: level of Sterol ester (27:1/18:0) in blood serum def: "The amount of a Sterol ester (27:1/18:0) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Sterol ester (27:1/18:0) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045197 name: level of Sterol ester (27:1/20:5) in blood serum def: "The amount of a Sterol ester (27:1/20:5) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Sterol ester (27:1/20:5) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045198 name: level of Sterol ester (27:1/20:4) in blood serum def: "The amount of a Sterol ester (27:1/20:4) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Sterol ester (27:1/20:4) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045199 name: level of Sterol ester (27:1/20:3) in blood serum def: "The amount of a Sterol ester (27:1/20:3) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Sterol ester (27:1/20:3) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045200 name: level of Sterol ester (27:1/20:2) in blood serum def: "The amount of a Sterol ester (27:1/20:2) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Sterol ester (27:1/20:2) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045201 name: level of Sterol ester (27:1/22:6) in blood serum def: "The amount of a Sterol ester (27:1/22:6) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum Sterol ester (27:1/22:6) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045202 name: level of 26,26,26,27,27,27-hexafluoro-25-hydroxy-16,17,23,23,24,24-hexadehydrovitamin D3 in blood serum def: "The amount of a (5z7e)-(3s)-262626272727-hexafluoro-910-seco-5710(19)16-cholestatetraen-23-yne-325-diol when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum (5z7e)-(3s)-262626272727-hexafluoro-910-seco-5710(19)16-cholestatetraen-23-yne-325-diol amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045203 name: level of Cyanidin 3,5-diglucoside (6'',6'''-malyl diester) in blood serum def: "The amount of a cyanidin 35-diglucoside (66-malyl diester) when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum cyanidin 35-diglucoside (66-malyl diester) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2045204 name: level of Cer(m18:1(4E)/24:1(15Z)) in blood serum def: "The amount of a n-(15z-tetracosenoyl)-1-deoxysphing-4-enine when measured in blood serum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood serum n-(15z-tetracosenoyl)-1-deoxysphing-4-enine amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2050099 name: age of onset of anorexia nervosa def: "The age at which anorexia nervosa manifestations first appear." [] synonym: "age anorexia nervosa symptoms begin" EXACT [] synonym: "age at onset of anorexia nervosa" EXACT [] is_a: HP:0003674 ! Onset intersection_of: HP:0003674 ! Onset intersection_of: characteristic_of MONDO:0005351 ! anorexia nervosa relationship: characteristic_of MONDO:0005351 ! anorexia nervosa property_value: gwas:trait "true" xsd:boolean [Term] id: OBA:2050327 name: age of onset of colorectal cancer def: "The age at which colorectal cancer manifestations first appear." [] synonym: "age at onset of colorectal cancer" EXACT [] synonym: "age colorectal cancer symptoms begin" EXACT [] is_a: OBA:2040153 ! age of onset of cancer intersection_of: HP:0003674 ! Onset intersection_of: characteristic_of MONDO:0005575 ! colorectal cancer relationship: characteristic_of MONDO:0005575 ! colorectal cancer [Term] id: OBA:2050328 name: trait in response to apixaban def: "A trait that affects the response to a stimulus with apixaban." [] synonym: "response to apixaban trait" EXACT [] is_a: GO:0061476 ! response to anticoagulant property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-6757-4744 xsd:string [Term] id: OBA:2050329 name: blood 13,16,19-Docosatrienoic acid amount def: "The amount of a 13,16,19-Docosatrienoic acid when measured in blood." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood 13,16,19-Docosatrienoic acid amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2050330 name: trait in response to teriparatide def: "A trait that affects the response to a stimulus with teriparatide." [] synonym: "response to teriparatide trait" EXACT [] is_a: GO:0009410 ! response to xenobiotic stimulus property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-6757-4744 xsd:string [Term] id: OBA:2050331 name: sputum mucin-5AC amount def: "The amount of a mucin-5AC when measured in sputum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "sputum mucin-5AC amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2050332 name: sputum mucin-5B amount def: "The amount of a mucin-5B when measured in sputum." [AUTO:patterns/patterns/entity_attribute_location] synonym: "sputum mucin-5B amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2050333 name: trait in response to oxaliplatin def: "A trait that affects the response to a stimulus with oxaliplatin." [] synonym: "response to oxaliplatin trait" EXACT [] is_a: EFO:0004647 ! response to platinum based chemotherapy property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-6757-4744 xsd:string [Term] id: OBA:2050334 name: level of neurturin in blood plasma def: "The amount of a neurturin when measured in blood plasma." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood plasma neurturin amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2050335 name: level of interleukin-33 in blood plasma def: "The amount of a interleukin-33 when measured in blood plasma." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood plasma interleukin-33 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2050336 name: level of T-cell differentiation antigen CD6 in blood plasma def: "The amount of a T-cell differentiation antigen CD6 (human) when measured in blood plasma." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood plasma T-cell differentiation antigen CD6 (human) amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:2050337 name: level of eukaryotic translation initiation factor 4E-binding protein 1 in blood plasma def: "The amount of a eukaryotic translation initiation factor 4E-binding protein 1 when measured in blood plasma." [AUTO:patterns/patterns/entity_attribute_location] synonym: "blood plasma eukaryotic translation initiation factor 4E-binding protein 1 amount" EXACT [AUTO:patterns/patterns/entity_attribute_location] is_a: PATO:0000070 ! amount [Term] id: OBA:VT0010487 name: response to xenobiotic stimulus trait def: "The quality of a response to xenobiotic stimulus." [obo:oba/patterns/entity_attribute_part_of] synonym: "quality of response to xenobiotic stimulus" EXACT [obo:oba/patterns/entity_attribute_part_of] is_a: GO:0009410 ! response to xenobiotic stimulus [Term] id: OBI:0000018 name: material supplier role def: "a role realized through the process of supplying materials such as animal subjects, reagents or other materials used in an investigation." [] def: "The role of a person or organisation in supplying materials such as animal subjects, reagents or other materials used in an investigation." [] synonym: "biosource provider" EXACT [] is_a: BFO:0000023 ! role property_value: IAO:0000111 "material supplier role" xsd:string property_value: IAO:0000112 "Jackson Labs is an organization which provide mice as experimental material" xsd:string property_value: IAO:0000114 IAO:0000120 property_value: IAO:0000116 "Supplier role is a special kind of service, e.g. biobank" xsd:string property_value: IAO:0000117 "James Malone (modified from original)" xsd:string property_value: IAO:0000117 "Jennifer Fostel" xsd:string property_value: IAO:0000117 "PERSON:Jennifer Fostel" xsd:string property_value: IAO:0000118 "material provider role" xsd:string property_value: IAO:0000118 "supplier" xsd:string [Term] id: OBI:0000049 name: mass spectrometer def: "A mass spectrometer is an instrument which is used to measure the mass to charge ratio of ions. All mass spectrometers consist of three basic parts: an ion source, a mass analyzer, and a detector system. The stages within the mass spectrometer are: 1. Production of ions from the sample 2. Separation of ions with different masses 3. Detection of the number of ions of each mass produced 4.Collection of data to generate the mass spectrum" [] xref: NCIt:C47875 is_a: EFO:0000548 ! instrument property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0002700 xsd:string property_value: IAO:0000111 "mass spectrometer" xsd:string property_value: IAO:0000112 "LCQ Fleet Ion Trap MSn manufactured by thermo fisher scientific" xsd:string property_value: IAO:0000114 IAO:0000122 property_value: IAO:0000117 "Frank Gibson" xsd:string property_value: IAO:0000119 http://en.wikipedia.org/wiki/Mass_spectrometry xsd:string [Term] id: OBI:0000066 name: investigation def: "a planned process that consists of parts: planning, study design execution, documentation and which produce conclusion(s)." [] is_a: EFO:0004542 ! planned process property_value: IAO:0000111 "investigation" xsd:string property_value: IAO:0000112 "Lung cancer investigation using expression profiling, a stem cell transplant investigation, biobanking is not an investigation, though it may be part of an investigation" xsd:string property_value: IAO:0000114 IAO:0000122 property_value: IAO:0000117 "Bjoern Peters" xsd:string property_value: IAO:0000119 "OBI branch derived" xsd:string property_value: IAO:0000232 "Could add specific objective specification" xsd:string property_value: IAO:0000232 "Following OBI call November 2012,26th: it was decided there was no need for adding \"achieves objective of drawing conclusion\" as existing relations were providing equivalent ability. this note closes the issue and validates the class definition to be part of the OBI core\neditor = PRS" xsd:string property_value: IAO:0000232 "Following OBI call November 2012,26th: it was decided there was no need for adding \"achieves objective of drawing conclusion\" as existing relations were providing equivalent ability. this note closes the issue and validates the class definition to be part of the OBI core editor = PRS, Could add specific objective specification" xsd:string property_value: IAO:0000412 http://purl.obolibrary.org/obo/obi.owl property_value: OBI:0001847 "study" xsd:string [Term] id: OBI:0000070 name: assay def: "A planned process that has the objective to produce information about a material entity (the evaluant) by examining it." [] def: "A planned process with the objective to produce information about some evaluant" [] def: "An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." [] synonym: "measuring" EXACT [] synonym: "scientific observation" EXACT [] xref: NCIt:C60819 is_a: EFO:0002694 ! experimental process disjoint_from: OBI:0200000 ! data transformation property_value: definition:citation "OBI_0000070" xsd:string property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001455 xsd:string property_value: IAO:0000111 "assay" xsd:string property_value: IAO:0000112 "A hybridization on a microarray." xsd:string property_value: IAO:0000112 "Assay the wavelength of light emitted by excited Neon atoms. Count of geese flying over a house." xsd:string property_value: IAO:0000114 IAO:0000122 property_value: IAO:0000116 "12/3/12: BP: the reference to the 'physical examination' is included to point out that a prediction is not an assay, as that does not require physical examiniation." xsd:string property_value: IAO:0000116 "Discussion on OBI call 2023-05-01 resulted in an agreement to revise the textual definition of 'assay'. https://github.com/obi-ontology/obi/issues/1683." xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "PlanAndPlannedProcess Branch" xsd:string property_value: IAO:0000118 "measuring" xsd:string property_value: IAO:0000118 "scientific observation" xsd:string property_value: IAO:0000119 "OBI branch derived" xsd:string property_value: OBI:0001847 "study assay" xsd:string property_value: OBI:9991118 "any method" xsd:string property_value: source:definition "A planned process with the objective to produce information about some evaluant" xsd:string [Term] id: OBI:0000071 name: quantitative confidence value def: "A data item which is used to indicate the degree of uncertainty about a measurement." [] is_a: IAO:0000027 ! data item property_value: definition:citation "OBI" xsd:string property_value: IAO:0000111 "quantitative confidence value" xsd:string property_value: IAO:0000114 IAO:0000125 property_value: IAO:0000117 "person:Chris Stoeckert" xsd:string property_value: IAO:0000119 group:OBI xsd:string [Term] id: OBI:0000118 name: gene list def: "A data set of the names or identifiers of genes that are the outcome of an analysis or have been put together for the purpose of an analysis." [] def: "A gene list is a report of the names or identifiers of genes that are the outcome of an analysis or have been put together for the purpose of an analysis." [] is_a: IAO:0000100 ! data set property_value: IAO:0000111 "gene list" xsd:string property_value: IAO:0000112 "Gene lists may arise from analysis to determine differentially expressed genes, may be collected from the literature for involvement in a particular process or pathway (e.g., inflammation), or may be the input for gene set enrichment analysis." xsd:string property_value: IAO:0000114 IAO:0000125 property_value: IAO:0000117 "Chris Stoeckert" xsd:string property_value: IAO:0000117 "person:Chris Stoeckert" xsd:string property_value: IAO:0000119 group:OBI xsd:string property_value: IAO:0000232 "kind of report. (alan) need to be careful to distinguish from output of a data transformation or calculation. A gene list is a report when it is published as such? Relates to question of whether report is a whole, or whether it can be a part of some other narrative object." xsd:string [Term] id: OBI:0000181 name: population def: "a population is a collection of individuals from the same taxonomic class living, counted or sampled at a particular site or in a particular area" [] def: "A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." [] xref: MeSH:D011153 xref: NIFSTD:sao2254405550 xref: SNOMEDCT:385436007 is_a: BFO:0000040 ! material entity property_value: branch:class "true" xsd:string property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0000664 xsd:string property_value: IAO:0000111 "population" xsd:string property_value: IAO:0000112 "PMID12564891. Environ Sci Technol. 2003 Jan 15;37(2):223-8. Effects of historic PCB exposures on the reproductive success of the Hudson River striped bass population." xsd:string property_value: IAO:0000114 IAO:0000125 property_value: IAO:0000116 "1/28/2013, BP, on the call it was raised that we may want to switch to an external ontology for all populatin terms: \nhttp://code.google.com/p/popcomm-ontology/" xsd:string property_value: IAO:0000117 "James Malone modified from original OBI definition" xsd:string property_value: IAO:0000117 "PERSON: Philippe Rocca-Serra" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak modified from original OBI definition" xsd:string property_value: IAO:0000119 "adapted from Oxford English Dictionnary" xsd:string property_value: IAO:0000232 "rem1: collection somehow always involve a selection process" xsd:string [Term] id: OBI:0000245 name: organization def: "An entity that can bear roles, has members, and has a set of organization rules. Members of organizations are either organizations themselves or individual people. Members can bear specific organization member roles that are determined in the organization rules. The organization rules also determine how decisions are made on behalf of the organization by the organization members." [] def: "An organization is a continuant entity which can play roles, has members, and has a set of organization rules. Members of organizations are either organizations themselves or individual people. Members can bear specific organization member roles that are determined in the organization rules. The organization rules also determine how decisions are made on behalf of the organization by the organization members." [] synonym: "organisation" EXACT [] xref: MO:177 xref: NCIt:C92453 xref: SNOMEDCT:21139007 is_a: BFO:0000040 ! material entity property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0002010 xsd:string property_value: IAO:0000111 "organization" xsd:string property_value: IAO:0000112 "PMID: 16353909.AAPS J. 2005 Sep 22;7(2):E274-80. Review. The joint food and agriculture organization of the United Nations/World Health Organization Expert Committee on Food Additives and its role in the evaluation of the safety of veterinary drug residues in foods." xsd:string property_value: IAO:0000114 IAO:0000122 property_value: IAO:0000116 "BP: The definition summarizes long email discussions on the OBI developer, roles, biomaterial and denrie branches. It leaves open if an organization is a material entity or a dependent continuant, as no consensus was reached on that. The current placement as material is therefore temporary, in order to move forward with development. Here is the entire email summary, on which the definition is based:\n\n1) there are organization_member_roles (president, treasurer, branch\neditor), with individual persons as bearers\n\n2) there are organization_roles (employer, owner, vendor, patent holder)\n\n3) an organization has a charter / rules / bylaws, which specify what roles\nthere are, how they should be realized, and how to modify the\ncharter/rules/bylaws themselves.\n\nIt is debatable what the organization itself is (some kind of dependent\ncontinuant or an aggregate of people). This also determines who/what the\nbearer of organization_roles' are. My personal favorite is still to define\norganization as a kind of 'legal entity', but thinking it through leads to\nall kinds of questions that are clearly outside the scope of OBI.\n\nInterestingly enough, it does not seem to matter much where we place\norganization itself, as long as we can subclass it (University, Corporation,\nGovernment Agency, Hospital), instantiate it (Affymetrix, NCBI, NIH, ISO,\nW3C, University of Oklahoma), and have it play roles.\n\nThis leads to my proposal: We define organization through the statements 1 -\n3 above, but without an 'is a' statement for now. We can leave it in its\ncurrent place in the is_a hierarchy (material entity) or move it up to\n'continuant'. We leave further clarifications to BFO, and close this issue\nfor now." xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "PERSON: Alan Ruttenberg" xsd:string property_value: IAO:0000117 "PERSON: Bjoern Peters" xsd:string property_value: IAO:0000117 "PERSON: Philippe Rocca-Serra" xsd:string property_value: IAO:0000117 "PERSON: Susanna Sansone" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: IAO:0000119 "GROUP: OBI" xsd:string [Term] id: OBI:0000272 name: protocol def: "A plan specification which has sufficient level of detail and quantitative information to communicate it between investigation agents, so that different investigation agents will reliably be able to independently reproduce the process." [] def: "a protocol is a plan specification which has sufficient level of detail and quantitative information to communicate it between domain experts, so that different domain experts will reliably be able to independently reproduce the process." [] def: "A protocol is an information entity which is a set of instructions that describe an how an experiment is done." [] synonym: "method" EXACT [] synonym: "method used in an experiment" EXACT [] synonym: "plan specification" EXACT [] xref: MO:214 xref: NCIt:C42651 xref: SNOMEDCT:260686004 is_a: IAO:0000030 ! information entity property_value: branch:class "true" xsd:string property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001442 xsd:string property_value: IAO:0000111 "protocol" xsd:string property_value: IAO:0000112 "PCR protocol, has objective specification, amplify DNA fragment of interest, and has action specification describes the amounts of experimental reagents used (e..g. buffers, dNTPS, enzyme), and the temperature and cycle time settings for running the PCR." xsd:string property_value: IAO:0000114 IAO:0000122 property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "PlanAndPlannedProcess Branch" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: IAO:0000119 "OBI branch derived + wikipedia (http://en.wikipedia.org/wiki/Protocol_%28natural_sciences%29)" xsd:string property_value: OBI:0001847 "study protocol" xsd:string [Term] id: OBI:0000275 name: analyte role def: "A measurand role borne by a molecular entity or an atom and realized in an analyte assay which achieves the objective to measure the magnitude/concentration/amount of the analyte in the entity bearing evaluant role." [] def: "Analyte role is a role borne by a material entity and realized by implementation of an analyte measuring assay with objective to detect the magnitude/concentration/ amount of the analyte in the entity bearing evaluant role." [] def: "Analyte role is a role borne by a molecular entity and realized in an analyte assay which achieves the objective to measure the magnitude/concentration/amount of the analyte in the entity bearing evaluant role" [] is_a: BFO:0000023 ! role property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001452 xsd:string property_value: IAO:0000111 "analyte role" xsd:string property_value: IAO:0000112 "Glucose in blood (measured in an assay to determine the concentration of glucose)." xsd:string property_value: IAO:0000114 IAO:0000122 property_value: IAO:0000116 "interestingly, an analyte is still an analyte even if it is not detected. for this reason it does not bear a specified input role" xsd:string property_value: IAO:0000116 "pH (technically the inverse log of [H+]) may be considered a quality; this remains to be tested." xsd:string property_value: IAO:0000116 "qualities such as weight, color are not assayed but measured, so they do not fall into this category." xsd:string property_value: IAO:0000117 "GROUP: Role Branch" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000119 "OBI" xsd:string property_value: IAO:0000232 "Feb 10, 2009. changes after discussion at OBI Consortium Workshop Feb 2-6, 2009. accepted as core term." xsd:string [Term] id: OBI:0000415 name: PCR name: polymerase chain reaction def: "PCR is the process in which a DNA polymerase is used to amplify a piece of DNA by in vitro enzymatic replication. As PCR progresses, the DNA thus generated is itself used as a template for replication. This sets in motion a chain reaction in which the DNA template is exponentially amplified." [] synonym: "polymerase chain reaction" EXACT [] xref: MeSH:D016133 xref: NCIt:C17003 xref: SNOMEDCT:258066000 is_a: EFO:0009107 ! nucleic acid amplification relationship: part_of EFO:0004184 ! nucleic acid library construction protocol property_value: IAO:0000111 "polymerase chain reaction" xsd:string property_value: IAO:0000112 "Opisthorchis viverrini: Detection by polymerase chain reaction (PCR) in human stool samples. Exp Parasitol. 2008 Sep 9. PMID: 18805413" xsd:string property_value: IAO:0000114 IAO:0000123 property_value: IAO:0000117 "OBI Consortium" xsd:string property_value: IAO:0000117 "OBI Plan" xsd:string property_value: IAO:0000118 "PCR" xsd:string property_value: IAO:0000119 "adapted from wikipedai" xsd:string [Term] id: OBI:0000427 name: enzyme def: "(protein or rna) or has_part (protein or rna) and\nhas_function some GO:0003824 (catalytic activity)" [] def: "(protein or rna) or has_part (protein or rna) and has_function some GO:0003824 (catalytic activity)" [] xref: NCIt:C16554 xref: SNOMEDCT:90668006 is_a: BFO:0000040 ! material entity property_value: IAO:0000111 "enzyme" xsd:string property_value: IAO:0000114 IAO:0000125 property_value: IAO:0000116 "MC: known issue: enzyme doesn't classify under material entity for now as it isn't stated that anything\nthat has_part some material entity is a material entity. If we add as equivalent classes to material entity has_part some material entity and part_of some material entity (each one in his own necessary and sufficient block) Pellet in P3 doesn't classify any more." xsd:string property_value: IAO:0000117 "person: Melanie Courtot" xsd:string property_value: IAO:0000119 GROUP:OBI xsd:string [Term] id: OBI:0000512 name: isolation of cell population name: single cell isolation def: "A method to separate a single cell suspension into individual cells in order to allow individual cell barcoding." [] def: "a process in which a population of cells with certain characteristics is isolated from a larger population" [] synonym: "isolation of cell population" EXACT [] is_a: EFO:0009106 ! sample enrichment property_value: http://www.ebi.ac.uk/efo/creator "Olamidipupo Ajigboye" xsd:string property_value: IAO:0000111 "isolation of cell population" xsd:string property_value: IAO:0000112 "removing CD4+ cells from PBMCs using magnetic beads." xsd:string property_value: IAO:0000114 IAO:0000123 property_value: IAO:0000117 "Person: Bjoern Peters" xsd:string [Term] id: OBI:0000540 name: isolation of adherent cells def: "a material separation process in which cells that stick to the container in which they are grown as a cell culture are separated from those in the liquid component of the culture. The output of this process are adherent cells." [] is_a: OBI:0000512 ! isolation of cell population property_value: IAO:0000111 "isolation of adherent cells" xsd:string property_value: IAO:0000114 IAO:0000123 [Term] id: OBI:0000552 name: reverse transcribed polymerase chain reaction name: reverse transcription PCR def: "reverse transcribe pcr is a process which allow amplification of cDNA during a pcr reaction while the cDNA results from a retrotranscription of messenger RNA isolated from a material entity." [] def: "Reverse transcription PCR is a process which allow amplification of cDNA during a pcr reaction while the cDNA results from a retrotranscription of messenger RNA isolated from a material entity." [] synonym: "reverse transcription polymerase chain reaction" EXACT [] synonym: "RT-PCR" EXACT [] is_a: EFO:0009107 ! nucleic acid amplification relationship: part_of EFO:0004184 ! nucleic acid library construction protocol property_value: IAO:0000111 "reverse transcribed polymerase chain reaction" xsd:string property_value: IAO:0000112 "Harmonisation of multi-centre real-time reverse-transcribed PCR results of a candidate prognostic marker in breast cancer: an EU-FP6 supported study of members of the EORTC - PathoBiology Group.\n\nSpan PN, Sieuwerts AM, Heuvel JJ, Spyratos F, Duffy MJ, Eppenberger-Castori S, Vacher S, O'Brien K, McKiernan E, Pierce A, Vuaroqueaux V, Foekens JA, Sweep FC, Martens JW.\nEur J Cancer. 2009 Jan;45(1):74-81. PMID: 19008094" xsd:string property_value: IAO:0000114 IAO:0000123 property_value: IAO:0000116 "3/21/10, BP:Modified definition to clarify that this is not the assay, but the material transformation" xsd:string property_value: IAO:0000117 "OBI Consortium" xsd:string property_value: IAO:0000117 "Philippe Rocca-Serra" xsd:string property_value: IAO:0000118 "reverse transcription polymerase chain reaction" xsd:string property_value: IAO:0000118 "RT-PCR" xsd:string [Term] id: OBI:0000650 name: differential expression analysis data transformation def: "A differential expression analysis data transformation is a data transformation that has an objective of differential expression analysis. Frequently this data transformation involves summarizing or otherwise aggregating signals from various samples categorized into groups, and calculating measures of group differences from these aggregated signals." [] def: "A differential expression analysis data transformation is a data transformation that has objective differential expression analysis" [] is_a: OBI:0200000 ! data transformation property_value: IAO:0000111 "differential expression analysis data transformation" xsd:string property_value: IAO:0000114 IAO:0000122 property_value: IAO:0000117 "Dan Berrios" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Melanie Courtot" xsd:string property_value: IAO:0000117 "Monnie McGee" xsd:string property_value: IAO:0000119 WEB: xsd:string [Term] id: OBI:0000659 name: specimen collection process def: "A planned process with the objective of collecting a specimen." [] synonym: "sample collection" EXACT [] synonym: "specimen collection" EXACT [] is_a: EFO:0002694 ! experimental process relationship: OBI:0000299 OBI:0100051 ! has_output specimen property_value: IAO:0000111 "specimen collection process" xsd:string property_value: IAO:0000112 "drawing blood from a patient for analysis, collecting a piece of a plant for depositing in a herbarium, buying meat from a butcher in order to measure its protein content in an investigation" xsd:string property_value: IAO:0000114 IAO:0000122 property_value: IAO:0000116 "label changed to 'specimen collection process' on 10/27/2014, details see tracker:\nhttp://sourceforge.net/p/obi/obi-terms/716/" xsd:string property_value: IAO:0000116 "Note: definition is in specimen creation objective which is defined as an objective to obtain and store a material entity for potential use as an input during an investigation." xsd:string property_value: IAO:0000116 "Philly2013: A specimen collection can have as part a material entity acquisition, such as ordering from a bank. The distinction is that specimen collection necessarily involves the creation of a specimen role. However ordering cell lines cells from ATCC for use in an investigation is NOT a specimen collection, because the cell lines already have a specimen role." xsd:string property_value: IAO:0000116 "Philly2013: The specimen_role for the specimen is created during the specimen collection process." xsd:string property_value: IAO:0000117 "Bjoern Peters" xsd:string property_value: IAO:0000118 "specimen collection" xsd:string property_value: IAO:0000232 "5/31/2012: This process is not necessarily an acquisition, as specimens may be collected from materials already in posession" xsd:string property_value: IAO:0000232 "6/9/09: used at workshop" xsd:string [Term] id: OBI:0000697 name: Helicos sequencing name: Helicos sequencing assay def: "A DNA sequencing by synthesis assay that identifiies the sequnece of billions of DNA molecules immobilized to a surface using DNA polymerase and fluorescently labeled nucleotides added one at a time. The sequencing process does not require an amplification step and is typically able to produce reads of 25 base pair length." [] def: "Helicos sequencing is a DNA sequencing which allows sequence identification of billions of DNA molecules immobilized to a surface by using DNA polymerase and fluorescently labeled nucleotides added one at a time. The sequencing process does not requires amplification step and is typically able to produce reads of 25 base pair length." [] is_a: EFO:0001456 ! DNA assay is_a: EFO:0003740 ! assay by sequencer relationship: RO:0000057 EFO:0003739 ! has_participant sequencer property_value: IAO:0000111 "Helicos sequencing assay" xsd:string property_value: IAO:0000112 "PMID: 18388294. Single-molecule DNA sequencing of a viral genome." xsd:string property_value: IAO:0000114 IAO:0000120 property_value: IAO:0000117 "Philippe Rocca-Serra" xsd:string property_value: IAO:0000118 "true single molecule sequencing" xsd:string property_value: IAO:0000119 url:https://en.wikipedia.org/wiki/Helicos_single_molecule_fluorescent_sequencing xsd:string [Term] id: OBI:0000711 name: library preparation def: "is a process which results in the creation of a library from fragments of DNA using cloning vectors or oligonucleotides with the role of adaptors." [] def: "process which results in the creation of a library from fragments of DNA using cloning vectors or oligonucleotides with the role of adaptors" [] synonym: "library construction" EXACT [] synonym: "nucleic acid library construction" EXACT [] synonym: "nucleic acid library preparation" EXACT [] is_a: EFO:0002694 ! experimental process property_value: IAO:0000111 "library preparation" xsd:string property_value: IAO:0000112 "PMID: 19570239. Construction and analysis of cotton (Gossypium arboreum L.) drought-related cDNA library. Zhang L, Li FG, Liu CL, Zhang CJ, Zhang XY. BMC Res Notes. 2009 Jul 2;2:120." xsd:string property_value: IAO:0000114 IAO:0000120 property_value: IAO:0000117 "Philippe Rocca-Serra" xsd:string property_value: IAO:0000118 "library construction" xsd:string [Term] id: OBI:0000724 name: Illumina sequencing name: Solexa sequencing assay def: "A DNA sequencing by synthesis assay that identifies sequence information using DNA polymerase and reversible terminator, requiring immobilization of genomic DNA fragments onto a surface and a specific clonal amplification step known as bridge PCR. Reliance on a reversible terminator allows cycles of DNA chain extension by DNA polymerase and imaging without the need of electrophoretic separation of newly synthesized DNA fragment as with Sanger sequencing." [] def: "Illumina sequencing is a DNA sequencing which allows sequence identification by relying on use of DNA polymerase and reversible terminator. The methods requires immobilization of genomic DNA fragment onto a surface and a specific clonal amplification step known as bridge PCR. Reliance on reversible terminator allow cycles of DNA chain extension by DNA polymerase and imaging without the need of electrophoretic separation of newly synthesized DNA fragment as with Sanger sequencing." [] synonym: "Solexa sequencing" EXACT [] is_a: EFO:0001456 ! DNA assay is_a: EFO:0003740 ! assay by sequencer relationship: RO:0000057 EFO:0003739 ! has_participant sequencer property_value: IAO:0000111 "Solexa sequencing assay" xsd:string property_value: IAO:0000112 "PMID: 18987734" xsd:string property_value: IAO:0000114 IAO:0000120 property_value: IAO:0000117 "Philippe Rocca-Serra" xsd:string property_value: IAO:0000118 "reversible terminator sequencing" xsd:string property_value: IAO:0000119 "Solexa web site (SS_DNAsequencing.pdf document available on july 2009)" xsd:string [Term] id: OBI:0000747 name: material sample def: "A material entity that has the material sample role" [] def: "A material which is collected with the intention of being representative of a greater whole (i.e. a sample)." [] synonym: "sample population" EXACT [] is_a: OBI:0100051 ! specimen property_value: IAO:0000111 "material sample" xsd:string property_value: IAO:0000112 "blood drawn from patient to measure his systemic glucose level. A population of humans with HIV enrolled in a study taken to represent patients with HIV in general." xsd:string property_value: IAO:0000114 IAO:0000123 property_value: IAO:0000117 "OBI: workshop" xsd:string property_value: IAO:0000118 "sample population" xsd:string property_value: IAO:0000233 https://github.com/obi-ontology/obi/issues/1013 property_value: OBI:0001847 "sample" xsd:string [Term] id: OBI:0000750 name: independent variable specification name: study design independent variable def: "a directive information entity that is part of a study design. Independent variables are entities whose values are selected to determine its relationship to an observed phenomenon (the dependent variable). In such an experiment, an attempt is made to find evidence that the values of the independent variable determine the values of the dependent variable (that which is being measured). The independent variable can be changed as required, and its values do not represent a problem requiring explanation in an analysis, but are taken simply as given. The dependent variable on the other hand, usually cannot be directly controlled" [] is_a: IAO:0000030 ! information entity property_value: IAO:0000111 "independent variable specification" xsd:string property_value: IAO:0000112 "In a study in which gene expression is measured in patients between 8 month to 4 years old that have mild or severe malaria and in which the hypothesis is that gene expression in that age group is a function of disease status, disease status is the independent variable." xsd:string property_value: IAO:0000114 IAO:0000122 property_value: IAO:0000116 "2/2/2009 Original definition - In the design of experiments, independent variables are those whose values are controlled or selected by the person experimenting (experimenter) to determine its relationship to an observed phenomenon (the dependent variable). In such an experiment, an attempt is made to find evidence that the values of the independent variable determine the values of the dependent variable (that which is being measured). The independent variable can be changed as required, and its values do not represent a problem requiring explanation in an analysis, but are taken simply as given. The dependent variable on the other hand, usually cannot be directly controlled." xsd:string property_value: IAO:0000116 "In the Philly 2013 workshop the label was chosen to distinguish it from \"dependent variable\" as used in statistical modelling. See: http://en.wikipedia.org/wiki/Statistical_modeling" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000117 "PERSON: Alan Ruttenberg" xsd:string property_value: IAO:0000117 "PERSON: Bjoern Peters" xsd:string property_value: IAO:0000117 "PERSON: Chris Stoeckert" xsd:string property_value: IAO:0000118 "experimental factor" xsd:string property_value: IAO:0000118 "independent variable" xsd:string property_value: IAO:0000119 "Web: http://en.wikipedia.org/wiki/Dependent_and_independent_variables" xsd:string property_value: IAO:0000232 "2009-03-16: work has been done on this term during during the OBI workshop winter 2009 and the current definition was considered acceptable for use in OBI. If there is a need to modify thisdefinition please notify OBI." xsd:string property_value: OBI:0001847 "study factor" xsd:string [Term] id: OBI:0000785 name: controlled variable specification name: study design controlled variable def: "Controlled variable specification is a part of a study design. They are the entities that could vary, but are kept constant to prevent their influence on the effect of the independent variable on the dependent." [] def: "Controlled variable specification is a part of a study design. They are the entities that could vary, but are kept constant to prevent their influence on the effect of the independent variable on the dependent." [] is_a: IAO:0000030 ! information entity property_value: IAO:0000111 "controlled variable specification" xsd:string property_value: IAO:0000112 "In a study in which gene expression is measured in patients between 8 month to 4 years old that have mild or severe malaria and in which the hypothesis is that gene expression in that age group is a function of disease status, age is a controlled variable." xsd:string property_value: IAO:0000114 IAO:0000122 property_value: IAO:0000116 "2/2/2009 Original definition: Controlled variables are also important to identify in experiments. They are the variables that are kept constant to prevent their influence on the effect of the independent variable on the dependent. Every experiment has a controlling variable, and it is necessary to not change it, or the results of the experiment won't be valid" xsd:string property_value: IAO:0000116 "In the Philly 2013 workshop the label was chosen to distinguish it from \"controlled variable\" as used in statistical modelling" xsd:string property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000117 "PERSON: Alan Ruttenberg" xsd:string property_value: IAO:0000117 "PERSON: Bjoern Peters" xsd:string property_value: IAO:0000117 "PERSON: Chris Stoeckert" xsd:string property_value: IAO:0000118 "controlled variable" xsd:string property_value: IAO:0000119 "WEB: http://en.wikipedia.org/wiki/Control_variable" xsd:string property_value: IAO:0000232 "2009-03-16: work has been done on this term during during the OBI workshop winter 2009 and the current definition was considered acceptable for use in OBI. If there is a need to modify thisdefinition please notify OBI." xsd:string [Term] id: OBI:0000869 name: polyA RNA name: polyA RNA extract def: "A RNA extract that is the output of an extraction process in which RNA molecules with poly A tail at its 3' end are purified." [] def: "A RNA extract that is the output of an extraction process in which RNA molecules with poly A tail at its 3’ end are purified." [] synonym: "poly adenylated RNA" EXACT [] is_a: CHEBI:33697 ! ribonucleic acid is_a: OBI:0100051 ! specimen property_value: IAO:0000111 "polyA RNA extract" xsd:string property_value: IAO:0000112 "Preparation of polyA RNA by cellulose-bound oligo-dT (Aviv, H., Leder, P. 1972. Purification of biologically active globin messenger RNA by chromatography on oligothymidylic acid-cellulose. Proc. Nat. Acad. Sci. USA 69, 1408-1412.)" xsd:string property_value: IAO:0000114 IAO:0000120 property_value: IAO:0000117 "Chris Stoeckert" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "PERSON: Chris Stoeckert" xsd:string property_value: IAO:0000117 "PERSON: Jie Zheng" xsd:string property_value: IAO:0000119 "UPenn Group" xsd:string [Term] id: OBI:0000922 name: frozen specimen def: "A specimen that has been frozen in order to store it." [] xref: NCIt:C70717 is_a: OBI:0001472 ! specimen with known storage state disjoint_from: OBI:0000950 ! paraffin specimen disjoint_from: OBI:0000971 ! fresh specimen disjoint_from: OBI:0000981 ! agar stab specimen property_value: IAO:0000111 "frozen specimen" xsd:string property_value: IAO:0000112 "Frozen blood plasma" xsd:string property_value: IAO:0000114 IAO:0000123 property_value: IAO:0000117 "Dani Welte" xsd:string property_value: IAO:0000117 "Person:Alan Ruttenberg" xsd:string property_value: IAO:0000119 "MO_610 frozen_sample" xsd:string [Term] id: OBI:0000924 name: labeled specimen def: "A specimen that has been modified in order to be able to detect it in future experiments" [] def: "A specimen that has been modified in order to be able to detect it in future experiments." [] is_a: OBI:0100051 ! specimen property_value: IAO:0000111 "labeled specimen" xsd:string property_value: IAO:0000114 IAO:0000123 property_value: IAO:0000116 "added during call 3/1/2010" xsd:string property_value: IAO:0000117 "OBI group" xsd:string [Term] id: OBI:0000950 name: paraffin specimen def: "a specimen that is output of a paraffin storage process in which specimen is embedded in paraffin" [] is_a: OBI:0001472 ! specimen with known storage state disjoint_from: OBI:0000971 ! fresh specimen disjoint_from: OBI:0000981 ! agar stab specimen property_value: IAO:0000111 "paraffin specimen" xsd:string property_value: IAO:0000112 "liver tissue embedded in paraffin" xsd:string property_value: IAO:0000114 IAO:0000123 property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000117 "PERSON: Chris Stoeckert" xsd:string property_value: IAO:0000117 "PERSON: Jie Zheng" xsd:string property_value: IAO:0000119 "MO_990 paraffin_sample" xsd:string [Term] id: OBI:0000971 name: fresh specimen def: "a specimen that is output of a specimen creation process used for an investigation without storage" [] def: "a specimen that is output of a specimen creation process used for an investigation without storage." [] xref: NCIt:C84517 is_a: OBI:0001472 ! specimen with known storage state disjoint_from: OBI:0000981 ! agar stab specimen property_value: IAO:0000111 "fresh specimen" xsd:string property_value: IAO:0000112 "a liver freshly removed from a rat" xsd:string property_value: IAO:0000114 IAO:0000123 property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000117 "PERSON: Chris Stoeckert" xsd:string property_value: IAO:0000117 "PERSON: Jie Zheng" xsd:string property_value: IAO:0000119 "MO_730 fresh_sample" xsd:string [Term] id: OBI:0000981 name: agar stab specimen def: "a specimen that is output of a process that cell culture inoculated into agar for long term storage" [] def: "a specimen that is output of a process that cell culture inoculated into agar for long term storage." [] is_a: OBI:0001472 ! specimen with known storage state property_value: IAO:0000111 "agar stab specimen" xsd:string property_value: IAO:0000114 IAO:0000123 property_value: IAO:0000117 "Dani Welter" xsd:string property_value: IAO:0000117 "PERSON: Chris Stoeckert" xsd:string property_value: IAO:0000117 "PERSON: Jie Zheng" xsd:string property_value: IAO:0000119 "MO_971 agar_stab" xsd:string [Term] id: OBI:0001140 name: spike-in quality control role def: "a reference substance role that is borne by a material entity with a known amount which is mixed into the evaluant of assays for quality control or data normalization purposes" [] def: "A reference substance role that is borne by a material entity with a known amount which is mixed into the evaluant of assays for quality control or data normalization purposes." [] is_a: BFO:0000023 ! role property_value: IAO:0000111 "spike-in quality control role" xsd:string property_value: IAO:0000114 IAO:0000120 property_value: IAO:0000117 "Chris Stoeckert, Jie Zheng, Bjoern Peters" xsd:string property_value: IAO:0000117 "PERSON: Chris Stoeckert, Jie Zheng, Bjoern Peter" xsd:string property_value: IAO:0000119 "MO_937 spike_quality_control" xsd:string [Term] id: OBI:0001142 name: dye swap quality control role def: "A reference substance role that is borne by a material entity used in a dye swap design experiment for quality control or data normalization purposes" [] def: "a reference substance role that is borne by a material entity used in a dye swap design experiment for quality control or data normalization purposes" [] is_a: BFO:0000023 ! role property_value: IAO:0000111 "dye swap quality control role" xsd:string property_value: IAO:0000114 IAO:0000120 property_value: IAO:0000117 "Chris Stoeckert" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "PERSON: Chris Stoeckert, Jie Zheng" xsd:string property_value: IAO:0000119 "MO_524 dye_swap_quality_control" xsd:string [Term] id: OBI:0001162 name: validation by reverse transcription PCR design def: "a study design in which checks the accuracy or the quality of the result of an assay by comparing with reverse transcription PCR results" [] def: "A study design in which checks the accuracy or the quality of the result of an assay by comparing with reverse transcription PCR results." [] is_a: EFO:0004669 ! methodological variation design property_value: IAO:0000111 "validation by reverse transcription PCR design" xsd:string property_value: IAO:0000114 IAO:0000120 property_value: IAO:0000117 "Chris Stoeckert" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "PERSON: Chris Stoeckert, Jie Zheng" xsd:string property_value: IAO:0000119 "MO_986 reverse_transcription_PCR_quality_control" xsd:string [Term] id: OBI:0001166 name: validation by real time PCR design def: "a study design in which the accuracy or the quality of the result of an assay is checked by comparing with real time PCR results" [] def: "A study design in which the accuracy or the quality of the result of an assay is checked by comparing with real time PCR results." [] is_a: EFO:0004669 ! methodological variation design property_value: IAO:0000111 "validation by real time PCR design" xsd:string property_value: IAO:0000114 IAO:0000120 property_value: IAO:0000117 "Chris Stoeckert" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "PERSON: Chris Stoeckert, Jie Zheng" xsd:string property_value: IAO:0000119 "MO_434 real_time_PCR_quality_control" xsd:string [Term] id: OBI:0001442 name: p-value name: q-value def: "A quantitative confidence value that measures the minimum false discovery rate that is incurred when calling that test significant." [] def: "A quantitative confidence value that measures the minimum false discovery rate that is incurred when calling that test significant. \nTo compute q-values, it is necessary to know the p-value produced by a test and possibly set a false discovery rate level." [] xref: NCIt:C44185 is_a: OBI:0000071 ! quantitative confidence value property_value: definition:citation "Adapted from several sources, including http://.en/wikipedia.org/wiki/False_discovery_rate http://svitsrv25.epfl.ch/R-doc/library/qvalue.html" xsd:string property_value: IAO:0000111 "q-value" xsd:string property_value: IAO:0000112 "PMID: 20483222. Comp Biochem Physiol Part D Genomics Proteomics. 2008 Sep;3(3):234-42. Analysis of Sus scrofa liver proteome and identification of proteins differentially expressed between genders, and conventional and genetically enhanced lines.\n\"After controlling the false discovery rate (FDRdU-editing enzyme APOBEC-3G comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9HC16 [Term] id: PR:000029257 name: ATP-binding cassette sub-family F member 3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9NUQ8 [Term] id: PR:000029258 name: palmitoyl-protein thioesterase ABHD10, mitochondrial comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9NUJ1 [Term] id: PR:000029260 name: acyl-coenzyme A thioesterase 13 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9NPJ3 [Term] id: PR:000029263 name: Arf-GAP domain and FG repeat-containing protein 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:O95081 [Term] id: PR:000029293 name: outer mitochondrial transmembrane helix translocase comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8NBU5 [Term] id: PR:000029298 name: BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9H3F6 [Term] id: PR:000029299 name: B-cell CLL/lymphoma 7 protein family member A comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q4VC05 [Term] id: PR:000029301 name: bromodomain-containing protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:O95696 [Term] id: PR:000029309 name: cilia- and flagella-associated protein 36 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96G28 [Term] id: PR:000029316 name: coiled-coil domain-containing protein 134 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9H6E4 [Term] id: PR:000029322 name: coiled-coil domain-containing protein 90B, mitochondrial comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9GZT6 [Term] id: PR:000029325 name: cilia- and flagella-associated protein 45 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9UL16 [Term] id: PR:000029326 name: coiled-coil domain-containing protein 25 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q86WR0 [Term] id: PR:000029330 name: coiled-coil domain-containing protein 43 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96MW1 [Term] id: PR:000029331 name: coiled-coil domain-containing protein 56 comment: Category=gene. is_a: CHEBI:36080 ! protein [Term] id: PR:000029342 name: coiled-coil domain-containing protein 92 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q53HC0 [Term] id: PR:000029344 name: splicing factor YJU2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9BW85 [Term] id: PR:000029345 name: coiled-coil domain-containing protein 97 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96F63 [Term] id: PR:000029349 name: coiled-coil domain-containing protein 9 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9Y3X0 [Term] id: PR:000029351 name: chromodomain Y-like protein 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N8U2 [Term] id: PR:000029357 name: coiled-coil-helix-coiled-coil-helix domain-containing protein 8 comment: Category=gene. is_a: CHEBI:36080 ! protein [Term] id: PR:000029360 name: C-type lectin domain family 4 member G comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6UXB4 [Term] id: PR:000029361 name: ATP-dependent Clp protease proteolytic subunit, mitochondrial comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q16740 [Term] id: PR:000029365 name: COMM domain-containing protein 9 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9P000 [Term] id: PR:000029366 name: COMM domain-containing protein 10 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9Y6G5 [Term] id: PR:000029367 name: serine/threonine-protein phosphatase CPPED1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9BRF8 [Term] id: PR:000029368 name: probable carboxypeptidase X1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96SM3 [Term] id: PR:000029373 name: cytospin-B comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5M775 [Term] id: PR:000029385 name: probable ATP-dependent RNA helicase DDX23 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9BUQ8 [Term] id: PR:000029394 name: antiviral innate immune response receptor RIG-I comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:O95786 [Term] id: PR:000029398 name: probable ATP-dependent RNA helicase DDX6 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P26196 [Term] id: PR:000029409 name: desumoylating isopeptidase 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6ICB0 [Term] id: PR:000029417 name: DnaJ homolog subfamily C member 12 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9UKB3 [Term] id: PR:000029418 name: DnaJ homolog subfamily C member 15 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9Y5T4 [Term] id: PR:000029419 name: DnaJ homolog subfamily C member 17 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9NVM6 [Term] id: PR:000029421 name: DnaJ homolog subfamily A member 4 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8WW22 [Term] id: PR:000029422 name: DnaJ homolog subfamily B member 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P25686 [Term] id: PR:000029423 name: DnaJ homolog subfamily B member 4 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9UDY4 [Term] id: PR:000029439 name: calcium uptake protein 2, mitochondrial comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8IYU8 [Term] id: PR:000029440 name: EF-hand domain-containing protein D1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9BUP0 [Term] id: PR:000029441 name: EF-hand domain-containing protein D2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96C19 [Term] id: PR:000029444 name: probable RNA-binding protein EIF1AD comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N9N8 [Term] id: PR:000029447 name: ER membrane protein complex subunit 4 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5J8M3 [Term] id: PR:000029452 name: protein FAM102B comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5T8I3 [Term] id: PR:000029456 name: protein FAM118B comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9BPY3 [Term] id: PR:000029464 name: BRCA1-A complex subunit Abraxas 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6UWZ7 [Term] id: PR:000029473 name: DENN domain-containing protein 10 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8TCE6 [Term] id: PR:000029475 name: CYFIP-related Rac1 interactor B comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9NUQ9 [Term] id: PR:000029476 name: protein FAM50A comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q14320 [Term] id: PR:000029487 name: protein LRATD2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96KN1 [Term] id: PR:000029492 name: protein FAM3C comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q92520 [Term] id: PR:000029499 name: FUN14 domain-containing protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8IVP5 [Term] id: PR:000029506 name: GATA zinc finger domain-containing protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8WUU5 [Term] id: PR:000029509 name: DNA-directed RNA polymerase II subunit GRINL1A comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:000030072 [Term] id: PR:000029510 name: ceramide-1-phosphate transfer protein comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5TA50 [Term] id: PR:000029511 name: GNAS gene translation product comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:000030075 [Term] id: PR:000029520 name: GRAM domain-containing protein 2B comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96HH9 [Term] id: PR:000029523 name: glutathione S-transferase mu 3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P21266 [Term] id: PR:000029525 name: glutathione S-transferase theta-2B comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P0CG30 [Term] id: PR:000029527 name: procollagen galactosyltransferase 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8NBJ5 [Term] id: PR:000029533 name: hemoglobin subunit epsilon comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P02100 [Term] id: PR:000029535 name: pseudouridine-5'-phosphatase comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q08623 [Term] id: PR:000029540 name: probable E3 ubiquitin-protein ligase HERC1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q15751 [Term] id: PR:000029547 name: high mobility group nucleosome-binding domain-containing protein 3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q15651 [Term] id: PR:000029551 name: interferon-induced protein with tetratricopeptide repeats 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P09913 [Term] id: PR:000029552 name: interferon-induced protein with tetratricopeptide repeats 3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:O14879 [Term] id: PR:000029555 name: interferon alpha-1/13 comment: Category=gene. Note: The human IFNA1 and IFNA13 genes encode identical proteins. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P01562 [Term] id: PR:000029571 name: BTB/POZ domain-containing protein KCTD15 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96SI1 [Term] id: PR:000029572 name: potassium channel regulatory protein comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N5I3 [Term] id: PR:000029573 name: BTB/POZ domain-containing protein KCTD3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9Y597 [Term] id: PR:000029574 name: BTB/POZ domain-containing protein KCTD5 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9NXV2 [Term] id: PR:000029576 name: BTB/POZ domain-containing protein KCTD6 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8NC69 [Term] id: PR:000029577 name: BTB/POZ domain-containing protein KCTD7 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96MP8 [Term] id: PR:000029578 name: protein O-glucosyltransferase 3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q7Z4H8 [Term] id: PR:000029583 name: laminin subunit beta-1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P07942 [Term] id: PR:000029585 name: lamina-associated polypeptide 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:000031104 [Term] id: PR:000029590 name: galectin-related protein comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q3ZCW2 [Term] id: PR:000029595 name: LIM domain-containing protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9UGP4 [Term] id: PR:000029605 name: leucine-rich repeat-containing protein 59 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96AG4 [Term] id: PR:000029610 name: leucine-rich repeat and fibronectin type-III domain-containing protein 4 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6PJG9 [Term] id: PR:000029611 name: leucine-rich repeat and transmembrane domain-containing protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9HBL6 [Term] id: PR:000029617 name: LysM and putative peptidoglycan-binding domain-containing protein 3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q7Z3D4 [Term] id: PR:000029628 name: ribosomal oxygenase 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8IUF8 [Term] id: PR:000029634 name: protein PALS2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9NZW5 [Term] id: PR:000029639 name: myocardial zonula adherens protein comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P0CAP1 [Term] id: PR:000029644 name: NHL repeat-containing protein 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8NBF2 [Term] id: PR:000029645 name: NmrA-like family domain-containing protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9HBL8 [Term] id: PR:000029649 name: pro-neuregulin-1, membrane-bound isoform comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q02297 [Term] id: PR:000029657 name: tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8TEA1 [Term] id: PR:000029663 name: protein kinase C and casein kinase substrate in neurons protein 3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9UKS6 [Term] id: PR:000029668 name: PDZ and LIM domain protein 4 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P50479 [Term] id: PR:000029669 name: PDZ domain-containing protein 11 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5EBL8 [Term] id: PR:000029672 name: phosphate-regulating neutral endopeptidase PHEX comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P78562 [Term] id: PR:000029675 name: pleckstrin homology domain-containing family A member 7 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6IQ23 [Term] id: PR:000029676 name: pleckstrin homology domain-containing family F member 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9H8W4 [Term] id: PR:000029681 name: pleckstrin homology domain-containing family O member 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8TD55 [Term] id: PR:000029682 name: putative phospholipase B-like 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8NHP8 [Term] id: PR:000029686 name: plexin domain-containing protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8IUK5 [Term] id: PR:000029695 name: proline-rich transmembrane protein 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q7Z6L0 [Term] id: PR:000029703 name: PWWP domain-containing protein 2B comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6NUJ5 [Term] id: PR:000029704 name: queuine tRNA-ribosyltransferase accessory subunit 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9H974 [Term] id: PR:000029705 name: GTPase HRas comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P01112 [Term] id: PR:000029710 name: probable RNA-binding protein 23 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q86U06 [Term] id: PR:000029711 name: RNA-binding protein 3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P98179 [Term] id: PR:000029725 name: regulator of microtubule dynamics protein 3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96TC7 [Term] id: PR:000029732 name: RWD domain-containing protein 4 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6NW29 [Term] id: PR:000029737 name: solute carrier family 35 member G2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8TBE7 [Term] id: PR:000029742 name: S-adenosylhomocysteine hydrolase-like protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:O43865 [Term] id: PR:000029745 name: SAM domain-containing protein SAMSN-1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9NSI8 [Term] id: PR:000029756 name: NAD-dependent protein deacetylase sirtuin-3, mitochondrial comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9NTG7 [Term] id: PR:000029759 name: protein Smaug homolog 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5PRF9 [Term] id: PR:000029767 name: protein Spindly comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96EA4 [Term] id: PR:000029770 name: sulfotransferase 2A1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q06520 [Term] id: PR:000029776 name: transmembrane protein 106B comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9NUM4 [Term] id: PR:000029777 name: transcription initiation factor IIE subunit beta comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P29084 [Term] id: PR:000029788 name: THAP domain-containing protein 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9H0W7 [Term] id: PR:000029789 name: peroxynitrite isomerase THAP4 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8WY91 [Term] id: PR:000029790 name: probable tRNA(His) guanylyltransferase comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9NWX6 [Term] id: PR:000029793 name: cytotoxic granule associated RNA binding protein TIA1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P31483 [Term] id: PR:000029794 name: mitochondrial import inner membrane translocase subunit Tim8 A comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:O60220 [Term] id: PR:000029799 name: transmembrane protein 154 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6P9G4 [Term] id: PR:000029812 name: transmembrane protein 87B comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96K49 [Term] id: PR:000029821 name: multifunctional methyltransferase subunit TRM112-like protein comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9UI30 [Term] id: PR:000029823 name: E3 ubiquitin ligase TRIM40 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6P9F5 [Term] id: PR:000029826 name: tripartite motif-containing protein 3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:O75382 [Term] id: PR:000029828 name: pseudouridylate synthase TRUB1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8WWH5 [Term] id: PR:000029833 name: outer dynein arm-docking complex subunit 4 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96NG3 [Term] id: PR:000029835 name: tetratricopeptide repeat protein 33 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6PID6 [Term] id: PR:000029849 name: vesicle-associated membrane protein-associated protein B/C comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:O95292 [Term] id: PR:000029851 name: V-set and immunoglobulin domain-containing protein 10 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N0Z9 [Term] id: PR:000029854 name: WW domain-binding protein 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q969T9 [Term] id: PR:000029856 name: WD repeat-containing protein 18 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9BV38 [Term] id: PR:000029884 name: zinc finger CCCH domain-containing protein 8 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N5P1 [Term] id: PR:000029889 name: palmitoyltransferase ZDHHC14 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8IZN3 [Term] id: PR:000030060 name: chromosome transmission fidelity protein 8 homolog comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P0CG13 [Term] id: PR:000030193 name: multivesicular body subunit 12B comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9H7P6 [Term] id: PR:000030196 name: PDZ domain-containing protein MAGIX comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9H6Y5 [Term] id: PR:000030198 name: plasminogen activator inhibitor 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P05120 [Term] id: PR:000030202 name: tetratricopeptide repeat protein 27 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6P3X3 [Term] id: PR:000030204 name: ADP-ribose glycohydrolase MACROD1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9BQ69 [Term] id: PR:000030207 name: protein phosphatase 1 regulatory subunit 3G comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:B7ZBB8 [Term] id: PR:000030210 name: DnaJ homolog subfamily C member 30, mitochondrial comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96LL9 [Term] id: PR:000030211 name: tripartite motif-containing protein 72 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6ZMU5 [Term] id: PR:000030218 name: calaxin comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9HAE3 [Term] id: PR:000030222 name: protein FAM24B comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N5W8 [Term] id: PR:000030231 name: testis-expressed protein 29 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N6K0 [Term] id: PR:000030233 name: DOMON domain-containing protein FRRS1L comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9P0K9 [Term] id: PR:000030236 name: transcription factor 24 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q7RTU0 [Term] id: PR:000030237 name: microtubule-associated tumor suppressor candidate 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5JR59 [Term] id: PR:000030244 name: PI-PLC X domain-containing protein 3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q63HM9 [Term] id: PR:000030253 name: centromere protein W comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5EE01 [Term] id: PR:000030257 name: glutathione S-transferase mu 4 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q03013 [Term] id: PR:000030267 name: t-SNARE domain-containing protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96NA8 [Term] id: PR:000030295 name: tetratricopeptide repeat protein 36 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:A6NLP5 [Term] id: PR:000030306 name: glucoside xylosyltransferase 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q4G148 [Term] id: PR:000030307 name: leucine-rich repeat-containing protein 15 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8TF66 [Term] id: PR:000030317 name: trafficking protein particle complex subunit 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:000050057 [Term] id: PR:000030321 name: NHL repeat-containing protein 3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5JS37 [Term] id: PR:000030330 name: oxidoreductase-like domain-containing protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5BKU9 [Term] id: PR:000030345 name: transmembrane protein 119 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q4V9L6 [Term] id: PR:000030353 name: protein FAM162A comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96A26 [Term] id: PR:000030354 name: CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q16842 [Term] id: PR:000030357 name: coiled-coil domain-containing protein 69 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:A6NI79 [Term] id: PR:000030363 name: uridylate-specific endoribonuclease comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P21128 [Term] id: PR:000030382 name: small RNA 2'-O-methyltransferase comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5T8I9 [Term] id: PR:000030390 name: mitochondrial coiled-coil domain protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P59942 [Term] id: PR:000030397 name: leucine-rich repeat-containing protein 4 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9HBW1 [Term] id: PR:000030400 name: transmembrane protein 25 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q86YD3 [Term] id: PR:000030404 name: GDNF family receptor alpha-like comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6UXV0 [Term] id: PR:000030407 name: sushi domain-containing protein 3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96L08 [Term] id: PR:000030409 name: adapter SH3BGRL comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:O75368 [Term] id: PR:000030411 name: IGF-like family receptor 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9H665 [Term] id: PR:000030419 name: cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N1G2 [Term] id: PR:000030425 name: transmembrane protein 230 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96A57 [Term] id: PR:000030428 name: PIH1 domain-containing protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9NWS0 [Term] id: PR:000030431 name: procollagen galactosyltransferase 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8IYK4 [Term] id: PR:000030465 name: C4b-binding protein alpha chain comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P04003 [Term] id: PR:000030473 name: cell surface hyaluronidase comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9UHN6 [Term] id: PR:000030474 name: ER membrane protein complex subunit 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N766 [Term] id: PR:000030487 name: Rab11 family-interacting protein 3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:O75154 [Term] id: PR:000030488 name: EF-hand calcium-binding domain-containing protein 4B comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9BSW2 [Term] id: PR:000030489 name: transmembrane protein 190 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8WZ59 [Term] id: PR:000030501 name: transmembrane protein 52 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8NDY8 [Term] id: PR:000030518 name: ubiquitin domain-containing protein 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8WUN7 [Term] id: PR:000030528 name: coiled-coil-helix-coiled-coil-helix domain-containing protein 7 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9BUK0 [Term] id: PR:000030530 name: COMM domain-containing protein 5 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9GZQ3 [Term] id: PR:000030546 name: putative chondrosarcoma-associated gene 1 protein comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6PB30 [Term] id: PR:000030552 name: transcription factor CP2-like protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9NZI6 [Term] id: PR:000030574 name: endosomal transmembrane epsin interactor 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q15884 [Term] id: PR:000030578 name: signal peptide, CUB and EGF-like domain-containing protein 3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8IX30 [Term] id: PR:000030586 name: protein FAM171A1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5VUB5 [Term] id: PR:000030592 name: V-set and immunoglobulin domain-containing protein 8 comment: Category=gene. Pro-orthology refers to, in this case, after-speciation gene duplication in the non-human species (aka 1:many orthology). is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P0DPA2 [Term] id: PR:000030593 name: protein FAM162B comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5T6X4 [Term] id: PR:000030594 name: metallophosphoesterase MPPED2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q15777 [Term] id: PR:000030596 name: putative uncharacterized protein TXNRD3NB comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6F5E7 [Term] id: PR:000030605 name: E3 ubiquitin-protein ligase HECTD3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5T447 [Term] id: PR:000030611 name: transmembrane protein 185A comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8NFB2 [Term] id: PR:000030614 name: piezo-type mechanosensitive ion channel component 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q92508 [Term] id: PR:000030615 name: mitochondrial import inner membrane translocase subunit Tim21 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9BVV7 [Term] id: PR:000030629 name: alanine--glyoxylate aminotransferase comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P21549 [Term] id: PR:000030633 name: fatty acid-binding protein 12 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:A6NFH5 [Term] id: PR:000030635 name: alpha-(1,3)-fucosyltransferase 7 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q11130 [Term] id: PR:000030640 name: armadillo repeat-containing protein 8 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8IUR7 [Term] id: PR:000030653 name: V-set and transmembrane domain-containing protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6UX27 [Term] id: PR:000030659 name: tubulin polymerization-promoting protein family member 3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9BW30 [Term] id: PR:000030668 name: probable aminopeptidase NPEPL1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8NDH3 [Term] id: PR:000030690 name: transmembrane protein 8B comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:A6NDV4 [Term] id: PR:000030696 name: WSC domain-containing protein 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q2TBF2 [Term] id: PR:000030701 name: translational activator of cytochrome c oxidase 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9BSH4 [Term] id: PR:000030703 name: leucine-rich repeat and fibronectin type-III domain-containing protein 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9ULH4 [Term] id: PR:000030722 name: palmitoyltransferase ZDHHC4 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9NPG8 [Term] id: PR:000030727 name: cotranscriptional regulator FAM172A comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8WUF8 [Term] id: PR:000030740 name: F-BAR and double SH3 domains protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q86WN1 [Term] id: PR:000030741 name: fibronectin type III domain-containing protein 4 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9H6D8 [Term] id: PR:000030763 name: BTB/POZ domain-containing protein KCTD2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q14681 [Term] id: PR:000030771 name: protein FAM177A1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N128 [Term] id: PR:000030773 name: SH3 domain-binding glutamic acid-rich-like protein 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9UJC5 [Term] id: PR:000030775 name: draxin comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8NBI3 [Term] id: PR:000030779 name: membrane protein FAM174A comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8TBP5 [Term] id: PR:000030784 name: discoidin, CUB and LCCL domain-containing protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N8Z6 [Term] id: PR:000030786 name: mitochondrial glycine transporter comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96DW6 [Term] id: PR:000030789 name: chemokine-like protein TAFA-5 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q7Z5A7 [Term] id: PR:000030791 name: ubiquitin-conjugating enzyme E2 W comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96B02 [Term] id: PR:000030799 name: purine nucleoside phosphorylase LACC1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8IV20 [Term] id: PR:000030806 name: succinate dehydrogenase assembly factor 1, mitochondrial comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:A6NFY7 [Term] id: PR:000030809 name: LysM and putative peptidoglycan-binding domain-containing protein 4 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5XG99 [Term] id: PR:000030819 name: glucose-induced degradation protein 8 homolog comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9NWU2 [Term] id: PR:000030825 name: adhesion G-protein coupled receptor F1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5T601 [Term] id: PR:000030838 name: chemokine-like protein TAFA-2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N3H0 [Term] id: PR:000030846 name: WAP four-disulfide core domain protein 3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8IUB2 [Term] id: PR:000030847 name: tubulin polymerization-promoting protein family member 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P59282 [Term] id: PR:000030855 name: 18S rRNA aminocarboxypropyltransferase comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9UJK0 [Term] id: PR:000030856 name: methenyltetrahydrofolate synthase domain-containing protein comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q2M296 [Term] id: PR:000030858 name: natural cytotoxicity triggering receptor 3 ligand 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q68D85 [Term] id: PR:000030876 name: DnaJ homolog subfamily B member 8 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8NHS0 [Term] id: PR:000030877 name: thrombospondin type-1 domain-containing protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9NS62 [Term] id: PR:000030885 name: 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase 9 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9Y231 [Term] id: PR:000030889 name: leucine-rich repeat and fibronectin type-III domain-containing protein 3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9BTN0 [Term] id: PR:000030902 name: DNA-directed RNA polymerase II subunit RPB11-a comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P52435 [Term] id: PR:000030904 name: protein FAM3A comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P98173 [Term] id: PR:000030907 name: clathrin heavy chain 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q00610 [Term] id: PR:000030913 name: histone-lysine N-methyltransferase ASH1L comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9NR48 [Term] id: PR:000030921 name: VPS10 domain-containing receptor SorCS3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9UPU3 [Term] id: PR:000030922 name: protein FAM110A comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9BQ89 [Term] id: PR:000030928 name: G antigen 2A comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6NT46 [Term] id: PR:000030930 name: GTPase IMAP family member GIMD1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P0DJR0 [Term] id: PR:000030931 name: asparagine--tRNA ligase, mitochondrial comment: Category=gene. is_a: CHEBI:36080 ! protein [Term] id: PR:000030938 name: bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9H903 [Term] id: PR:000030939 name: leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P0C6S8 [Term] id: PR:000030945 name: dynein regulatory complex protein 10 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96DY2 [Term] id: PR:000030950 name: neuronal regeneration-related protein comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q16612 [Term] id: PR:000030971 name: CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q11201 [Term] id: PR:000030972 name: protein eva-1 homolog B comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9NVM1 [Term] id: PR:000030975 name: probable RNA-binding protein 46 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8TBY0 [Term] id: PR:000030980 name: protein-lysine N-methyltransferase EEF2KMT comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96G04 [Term] id: PR:000030986 name: protein YAE1 comment: Category=gene. is_a: CHEBI:36080 ! protein [Term] id: PR:000031004 name: adhesion G-protein coupled receptor D1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6QNK2 [Term] id: PR:000031016 name: uroplakin-3b-like protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:B0FP48 [Term] id: PR:000031023 name: OTU domain-containing protein 3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5T2D3 [Term] id: PR:000031035 name: ankyrin repeat domain-containing protein 46 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q86W74 [Term] id: PR:000031039 name: D-ribitol-5-phosphate cytidylyltransferase comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:A4D126 [Term] id: PR:000031046 name: nucleotide triphosphate diphosphatase comment: Category=gene. is_a: CHEBI:36080 ! protein [Term] id: PR:000031049 name: protein BRICK1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8WUW1 [Term] id: PR:000031052 name: adhesion G-protein coupled receptor F2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8IZF7 [Term] id: PR:000031060 name: regulation of nuclear pre-mRNA domain-containing protein 1B comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9NQG5 [Term] id: PR:000031062 name: BRO1 domain-containing protein BROX comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5VW32 [Term] id: PR:000031066 name: scavenger receptor cysteine-rich domain-containing group B protein comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8WTU2 [Term] id: PR:000031067 name: leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q3SXY7 [Term] id: PR:000031072 name: metalloprotease TIKI1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q86V40 [Term] id: PR:000031080 name: nuclear pore complex-interacting protein family member B3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q92617 [Term] id: PR:000031097 name: noncompact myelin-associated protein comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5T1S8 [Term] id: PR:000031100 name: probable dimethyladenosine transferase comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9UNQ2 [Term] id: PR:000031105 name: ankyrin repeat domain-containing protein 40 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6AI12 [Term] id: PR:000031111 name: reticulophagy regulator 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9H6L5 [Term] id: PR:000031116 name: chitinase domain-containing protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9BWS9 [Term] id: PR:000031133 name: CYFIP-related Rac1 interactor A comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9H0Q0 [Term] id: PR:000031137 name: polyphosphoinositide phosphatase comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q92562 [Term] id: PR:000031145 name: centrosomal protein of 112 kDa comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N8E3 [Term] id: PR:000031149 name: transforming growth factor beta activator LRRC32 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q14392 [Term] id: PR:000031155 name: leucine-rich repeat LGI family member 3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N145 [Term] id: PR:000031165 name: DnaJ homolog subfamily C member 5B comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9UF47 [Term] id: PR:000031166 name: centrosomal protein 20 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96NB1 [Term] id: PR:000031175 name: E3 ubiquitin-protein ligase TRIM62 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9BVG3 [Term] id: PR:000031181 name: protein phosphatase 1 regulatory subunit 29 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5R3F8 [Term] id: PR:000031186 name: aldehyde dehydrogenase family 3 member B1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P43353 [Term] id: PR:000031187 name: DnaJ homolog subfamily B member 12 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9NXW2 [Term] id: PR:000031189 name: nucleotidyltransferase MB21D2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8IYB1 [Term] id: PR:000031191 name: AT-rich interactive domain-containing protein 3C comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:A6NKF2 [Term] id: PR:000031192 name: carboxylesterase 3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6UWW8 [Term] id: PR:000031193 name: BRISC complex subunit Abraxas 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q15018 [Term] id: PR:000031195 name: protein-lysine methyltransferase METTL21C comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5VZV1 [Term] id: PR:000031209 name: eukaryotic translation initiation factor 1A, X-chromosomal comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P47813 [Term] id: PR:000031219 name: prostaglandin reductase 3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N4Q0 [Term] id: PR:000031241 name: DDB1- and CUL4-associated factor 11 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8TEB1 [Term] id: PR:000031244 name: DDRGK domain-containing protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96HY6 [Term] id: PR:000031251 name: fibronectin type III domain-containing protein 8 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8TC99 [Term] id: PR:000031253 name: lysosomal cobalamin transporter ABCD4 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:O14678 [Term] id: PR:000031257 name: coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8WYQ3 [Term] id: PR:000031259 name: divergent protein kinase domain 1C comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q0P6D2 [Term] id: PR:000031265 name: ubiquitin thioesterase otulin comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96BN8 [Term] id: PR:000031266 name: WAP four-disulfide core domain protein 8 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8IUA0 [Term] id: PR:000031267 name: coiled-coil domain-containing protein 149 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6ZUS6 [Term] id: PR:000031287 name: ankyrin repeat and MYND domain-containing protein 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8IV38 [Term] id: PR:000031292 name: ER membrane protein complex subunit 10 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5UCC4 [Term] id: PR:000031300 name: prosaposin comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P07602 [Term] id: PR:000031301 name: TOX high mobility group box family member 3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:O15405 [Term] id: PR:000031303 name: leucine-rich repeat-containing protein 37A2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:A6NM11 [Term] id: PR:000031307 name: acyl-coenzyme A thioesterase MBLAC2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q68D91 [Term] id: PR:000031314 name: coiled-coil domain-containing protein 126 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96EE4 [Term] id: PR:000031329 name: polypeptide N-acetylgalactosaminyltransferase 16 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N428 [Term] id: PR:000031337 name: endogenous retrovirus group V member 1 Env polyprotein comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:B6SEH8 [Term] id: PR:000031343 name: mucin-5AC comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P98088 [Term] id: PR:000031354 name: WW domain binding protein 1-like comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9NX94 [Term] id: PR:000031355 name: protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8NAT1 [Term] id: PR:000031359 name: V-set and immunoglobulin domain-containing protein 10-like comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q86VR7 [Term] id: PR:000031362 name: Cx9C motif-containing protein 4 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P56277 [Term] id: PR:000031371 name: immunoglobulin superfamily member 3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:O75054 [Term] id: PR:000031379 name: sushi domain-containing protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6UWL2 [Term] id: PR:000031390 name: V-set and immunoglobulin domain-containing protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q86XK7 [Term] id: PR:000031391 name: CUB and sushi domain-containing protein 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q7Z408 [Term] id: PR:000031397 name: xyloside xylosyltransferase 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8NBI6 [Term] id: PR:000031404 name: testicular spindle-associated protein SHCBP1L comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9BZQ2 [Term] id: PR:000031410 name: coiled-coil domain-containing protein 140 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96MF4 [Term] id: PR:000031424 name: Xaa-Pro aminopeptidase 3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9NQH7 [Term] id: PR:000031425 name: Ly6/PLAUR domain-containing protein 8 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6UX82 [Term] id: PR:000031435 name: trans-3-hydroxy-L-proline dehydratase comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96EM0 [Term] id: PR:000031438 name: TBC1 domain family member 28 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q2M2D7 [Term] id: PR:000031439 name: leucine-rich repeat-containing protein 20 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8TCA0 [Term] id: PR:000031449 name: tryptase alpha/beta-1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q15661 [Term] id: PR:000031454 name: von Willebrand factor C domain-containing protein 2-like comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:B2RUY7 [Term] id: PR:000031458 name: prenylcysteine oxidase 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9UHG3 [Term] id: PR:000031459 name: G0/G1 switch protein 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P27469 [Term] id: PR:000031463 name: DDB1- and CUL4-associated factor 5 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96JK2 [Term] id: PR:000031482 name: POTE ankyrin domain family member G comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6S5H5 [Term] id: PR:000031483 name: ankyrin repeat and SAM domain-containing protein 3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6ZW76 [Term] id: PR:000031489 name: acyl-CoA-binding domain-containing protein 4 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8NC06 [Term] id: PR:000031503 name: HORMA domain-containing protein 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N7B1 [Term] id: PR:000031522 name: von Willebrand factor A domain-containing protein 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5GFL6 [Term] id: PR:000031524 name: transmembrane protein 106A comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96A25 [Term] id: PR:000031537 name: NudC domain-containing protein 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8WVJ2 [Term] id: PR:000031540 name: putative deoxyribonuclease TATDN3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q17R31 [Term] id: PR:000031546 name: DDB1- and CUL4-associated factor 12 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5T6F0 [Term] id: PR:000031547 name: protein FAM118A comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9NWS6 [Term] id: PR:000031548 name: probable E3 ubiquitin-protein ligase TRIML1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N9V2 [Term] id: PR:000031550 name: insulin growth factor-like family member 3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6UXB1 [Term] id: PR:000031552 name: protein p13 MTCP-1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P56278 [Term] id: PR:000031565 name: transmembrane and immunoglobulin domain-containing protein 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96BF3 [Term] id: PR:000031567 name: leucine-rich repeat-containing protein 3B comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96PB8 [Term] id: PR:000031575 name: peroxiredoxin-like 2A comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9BRX8 [Term] id: PR:000031578 name: Myb/SANT-like DNA-binding domain-containing protein 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6P1R3 [Term] id: PR:000031588 name: bifunctional peptidase and arginyl-hydroxylase JMJD5 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N371 [Term] id: PR:000031596 name: SOSS complex subunit C comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9NRY2 [Term] id: PR:000031600 name: pleckstrin homology domain-containing family M member 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8IWE5 [Term] id: PR:000031611 name: NEDD8-conjugating enzyme UBE2F comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q969M7 [Term] id: PR:000031614 name: methyltransferase BCDIN3D comment: Category=gene. is_a: CHEBI:36080 ! protein [Term] id: PR:000031615 name: probable methyltransferase-like protein 24 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5JXM2 [Term] id: PR:000031620 name: protein FAM151B comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6UXP7 [Term] id: PR:000031642 name: testis-expressed protein 30 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5JUR7 [Term] id: PR:000031647 name: eukaryotic translation initiation factor 1A, Y-chromosomal comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:O14602 [Term] id: PR:000031650 name: rRNA methyltransferase 2, mitochondrial comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9UI43 [Term] id: PR:000031652 name: sterile alpha motif domain-containing protein 12 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N8I0 [Term] id: PR:000031654 name: PDZ domain-containing protein GIPC2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8TF65 [Term] id: PR:000031659 name: adhesion G protein-coupled receptor F5 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8IZF2 [Term] id: PR:000031660 name: V-set and transmembrane domain-containing protein 4 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8IW00 [Term] id: PR:000031668 name: ADP-ribose glycohydrolase MACROD2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:A1Z1Q3 [Term] id: PR:000031670 name: transmembrane and coiled-coil domain-containing protein 5A comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N6Q1 [Term] id: PR:000031671 name: ubiquitin carboxyl-terminal hydrolase CYLD comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9NQC7 [Term] id: PR:000031674 name: IgLON family member 5 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:A6NGN9 [Term] id: PR:000031676 name: secretoglobin family 3A member 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96PL1 [Term] id: PR:000031680 name: pseudokinase FAM20A comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96MK3 [Term] id: PR:000031682 name: glycosyltransferase 8 domain-containing protein 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9H1C3 [Term] id: PR:000031687 name: C->U-editing enzyme APOBEC-2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9Y235 [Term] id: PR:000031695 name: glycerophosphocholine phosphodiesterase GPCPD1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9NPB8 [Term] id: PR:000031709 name: protein LRATD1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96KN4 [Term] id: PR:000031711 name: leucine-rich repeat and transmembrane domain-containing protein 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N967 [Term] id: PR:000031713 name: ankyrin repeat domain-containing protein 63 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:C9JTQ0 [Term] id: PR:000031715 name: piRNA biogenesis protein EXD1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8NHP7 [Term] id: PR:000031718 name: extracellular serine/threonine protein kinase Fam20C comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8IXL6 [Term] id: PR:000031720 name: probable RNA-binding protein 19 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9Y4C8 [Term] id: PR:000031724 name: izumo sperm-egg fusion protein 4 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q1ZYL8 [Term] id: PR:000031737 name: ankyrin repeat domain-containing protein 45 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5TZF3 [Term] id: PR:000031738 name: BTB/POZ domain-containing protein KCTD4 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8WVF5 [Term] id: PR:000031742 name: pleckstrin homology domain-containing family B member 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9UF11 [Term] id: PR:000031749 name: transmembrane and ubiquitin-like domain-containing protein 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q71RG4 [Term] id: PR:000031761 name: transmembrane emp24 domain-containing protein 9 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9BVK6 [Term] id: PR:000031765 name: phospholipase B-like 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6P4A8 [Term] id: PR:000031777 name: IST1 homolog comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P53990 [Term] id: PR:000031783 name: allergin-1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q7Z6M3 [Term] id: PR:000031784 name: AP-4 complex accessory subunit Tepsin comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96N21 [Term] id: PR:000031796 name: isochorismatase domain-containing protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96CN7 [Term] id: PR:000031800 name: WAP four-disulfide core domain protein 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q14508 [Term] id: PR:000031810 name: protein FAM219B comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5XKK7 [Term] id: PR:000031822 name: PDZ domain-containing protein 7 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9H5P4 [Term] id: PR:000031824 name: probable serine carboxypeptidase CPVL comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9H3G5 [Term] id: PR:000031825 name: deoxyribonuclease TATDN1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6P1N9 [Term] id: PR:000031829 name: FAD-dependent oxidoreductase domain-containing protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96CU9 [Term] id: PR:000031842 name: DnaJ homolog subfamily C member 16 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9Y2G8 [Term] id: PR:000031844 name: leucine-rich repeat-containing protein 24 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q50LG9 [Term] id: PR:000031847 name: GH3 domain-containing protein comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N2G8 [Term] id: PR:000031857 name: AP-1 complex-associated regulatory protein comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q63HQ0 [Term] id: PR:000031867 name: PIH1 domain-containing protein 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8WWB5 [Term] id: PR:000031877 name: 5'-nucleotidase domain-containing protein 3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q86UY8 [Term] id: PR:000031880 name: transmembrane protein PVRIG comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6DKI7 [Term] id: PR:000031881 name: endoplasmic reticulum transmembrane helix translocase comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9HD20 [Term] id: PR:000031882 name: putative protein N-methyltransferase FAM86B1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N7N1 [Term] id: PR:000031896 name: serine hydrolase RBBP9 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:O75884 [Term] id: PR:000031898 name: KxDL motif-containing protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9BQD3 [Term] id: PR:000031900 name: protein kish-B comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9NRX6 [Term] id: PR:000031907 name: complex I intermediate-associated protein 30, mitochondrial comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9Y375 [Term] id: PR:000031910 name: tubulin polyglutamylase complex subunit 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q68CL5 [Term] id: PR:000031911 name: small vasohibin-binding protein comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N300 [Term] id: PR:000031924 name: WAP four-disulfide core domain protein 6 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9BQY6 [Term] id: PR:000031949 name: SLP adapter and CSK-interacting membrane protein comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6UWF3 [Term] id: PR:000031952 name: Rab-like protein 6 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q3YEC7 [Term] id: PR:000031960 name: epididymal secretory protein E3-beta comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P56851 [Term] id: PR:000031965 name: endoplasmic reticulum lectin 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96DZ1 [Term] id: PR:000031969 name: C-type lectin domain family 2 member B comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q92478 [Term] id: PR:000031984 name: MAM domain-containing protein 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q7Z304 [Term] id: PR:000031986 name: DnaJ homolog subfamily C member 27 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9NZQ0 [Term] id: PR:000031987 name: glycosyltransferase 8 domain-containing protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q68CQ7 [Term] id: PR:000031992 name: coiled-coil domain-containing protein 24 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N4L8 [Term] id: PR:000031998 name: protein FAM171A2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:A8MVW0 [Term] id: PR:000032003 name: MORF4 family-associated protein 1-like 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96HT8 [Term] id: PR:000032004 name: dehydrogenase/reductase SDR family member 11 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6UWP2 [Term] id: PR:000032011 name: BTB/POZ domain-containing protein KCTD1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q719H9 [Term] id: PR:000032014 name: protein PET117 homolog, mitochondrial comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6UWS5 [Term] id: PR:000032020 name: rieske domain-containing protein comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8TAC1 [Term] id: PR:000032023 name: butyrophilin subfamily 3 member A2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P78410 [Term] id: PR:000032027 name: Rho GTPase-activating protein 36 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6ZRI8 [Term] id: PR:000032032 name: haloacid dehalogenase-like hydrolase domain-containing protein 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9H0R4 [Term] id: PR:000032039 name: cytochrome c oxidase assembly factor 7 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96BR5 [Term] id: PR:000032071 name: leucine-rich repeat-containing protein 3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9BY71 [Term] id: PR:000032083 name: intelectin-1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8WWA0 [Term] id: PR:000032099 name: protein FAM163B comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P0C2L3 [Term] id: PR:000032100 name: zinc finger C4H2 domain-containing protein comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9NQZ6 [Term] id: PR:000032107 name: probable RNA-binding protein 18 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96H35 [Term] id: PR:000032108 name: MICOS complex subunit MIC10 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5TGZ0 [Term] id: PR:000032116 name: tetratricopeptide repeat protein 32 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5I0X7 [Term] id: PR:000032117 name: immunoglobulin superfamily DCC subclass member 4 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8TDY8 [Term] id: PR:000032123 name: phospholipid phosphatase 4 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5VZY2 [Term] id: PR:000032125 name: carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9GZU7 [Term] id: PR:000032127 name: transmembrane protein 234 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8WY98 [Term] id: PR:000032146 name: protein FAM151A comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8WW52 [Term] id: PR:000032150 name: 1-acylglycerol-3-phosphate O-acyltransferase ABHD5 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8WTS1 [Term] id: PR:000032156 name: GTPase IMAP family member 7 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8NHV1 [Term] id: PR:000032166 name: BICD family-like cargo adapter 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6ZP65 [Term] id: PR:000032172 name: phospholipid transfer protein C2CD2L comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:O14523 [Term] id: PR:000032173 name: BRCA1-associated ATM activator 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6PJG6 [Term] id: PR:000032180 name: mitotic-spindle organizing protein 2A comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6P582 [Term] id: PR:000032183 name: DnaJ homolog subfamily C member 11 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9NVH1 [Term] id: PR:000032184 name: leucine-rich repeat-containing protein 75A comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8NAA5 [Term] id: PR:000032189 name: protein FAM221B comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:A6H8Z2 [Term] id: PR:000032199 name: protein FAM209B comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5JX69 [Term] id: PR:000032201 name: butyrophilin subfamily 2 member A1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q7KYR7 [Term] id: PR:000032202 name: ankyrin repeat domain-containing protein 16 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6P6B7 [Term] id: PR:000032222 name: butyrophilin subfamily 2 member A2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8WVV5 [Term] id: PR:000032235 name: SAYSvFN domain-containing protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9NPB0 [Term] id: PR:000032237 name: coiled-coil domain-containing protein 115 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96NT0 [Term] id: PR:000032246 name: integral membrane protein 2B comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9Y287 [Term] id: PR:000032250 name: transmembrane protein 132B comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q14DG7 [Term] id: PR:000032252 name: a disintegrin and metalloproteinase with thrombospondin motifs 6 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9UKP5 [Term] id: PR:000032256 name: coiled-coil domain-containing protein 103 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8IW40 [Term] id: PR:000032257 name: mitochondrial potassium channel comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96ER9 [Term] id: PR:000032258 name: protein N-terminal glutamine amidohydrolase comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96HA8 [Term] id: PR:000032259 name: kelch-like protein 40 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q2TBA0 [Term] id: PR:000032260 name: N-lysine methyltransferase SMYD2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9NRG4 [Term] id: PR:000032263 name: thiosulfate:glutathione sulfurtransferase comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8NFU3 [Term] id: PR:000032264 name: protein NDNF comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8TB73 [Term] id: PR:000032266 name: LIM domain-containing protein 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9BT23 [Term] id: PR:000032274 name: protein FAM204A comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9H8W3 [Term] id: PR:000032276 name: CKLF-like MARVEL transmembrane domain-containing protein 4 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8IZR5 [Term] id: PR:000032296 name: diphthine methyltransferase comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9BTV6 [Term] id: PR:000032299 name: protein FAM210A comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96ND0 [Term] id: PR:000032301 name: BEN domain-containing protein 6 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5SZJ8 [Term] id: PR:000032305 name: colipase-like protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:A2RUU4 [Term] id: PR:000032319 name: LEM domain-containing protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q68G75 [Term] id: PR:000032328 name: coiled-coil domain-containing protein 167 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9P0B6 [Term] id: PR:000032330 name: tetratricopeptide repeat protein 9B comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N6N2 [Term] id: PR:000032335 name: butyrophilin subfamily 3 member A3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:O00478 [Term] id: PR:000032336 name: protein FAM9B comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8IZU0 [Term] id: PR:000032338 name: VPS10 domain-containing receptor SorCS1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8WY21 [Term] id: PR:000032355 name: quinone oxidoreductase PIG3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q53FA7 [Term] id: PR:000032356 name: protein kish-A comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8TBQ9 [Term] id: PR:000032366 name: protein phosphatase 1 regulatory subunit 42 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q7Z4L9 [Term] id: PR:000032370 name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9BU61 [Term] id: PR:000032371 name: 4-hydroxy-2-oxoglutarate aldolase, mitochondrial comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q86XE5 [Term] id: PR:000032376 name: leucine-rich repeat and fibronectin type-III domain-containing protein 5 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96NI6 [Term] id: PR:000032382 name: protein FAM221A comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:A4D161 [Term] id: PR:000032386 name: COMM domain-containing protein 8 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9NX08 [Term] id: PR:000032395 name: 5'-nucleotidase domain-containing protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5TFE4 [Term] id: PR:000032417 name: calcium uptake protein 3, mitochondrial comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q86XE3 [Term] id: PR:000032418 name: lysophosphatidylserine lipase ABHD12 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N2K0 [Term] id: PR:000032420 name: chemokine-like protein TAFA-3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q7Z5A8 [Term] id: PR:000032439 name: MANSC domain-containing protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9H8J5 [Term] id: PR:000032451 name: CBY1-interacting BAR domain-containing protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:A1XBS5 [Term] id: PR:000032454 name: probable inactive serine protease 37 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:A4D1T9 [Term] id: PR:000032459 name: adenine nucleotide translocase lysine N-methyltransferase comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9BQD7 [Term] id: PR:000032470 name: kelch repeat and BTB domain-containing protein 11 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:O94819 [Term] id: PR:000032485 name: C-type lectin domain family 2 member L comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P0C7M8 [Term] id: PR:000032492 name: actin-histidine N-methyltransferase comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q86TU7 [Term] id: PR:000032496 name: probable transmembrane reductase CYB561D1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N8Q1 [Term] id: PR:000032501 name: dysbindin domain-containing protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9H9R9 [Term] id: PR:000032516 name: LIM domain only protein 3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8TAP4 [Term] id: PR:000032521 name: synaptonemal complex central element protein 1-like comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:A8MT33 [Term] id: PR:000032524 name: translation machinery-associated protein 16 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96EY4 [Term] id: PR:000032526 name: GTPase IMAP family member 6 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6P9H5 [Term] id: PR:000032543 name: probable E3 ubiquitin-protein ligase HERC4 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5GLZ8 [Term] id: PR:000032550 name: fibronectin type 3 and ankyrin repeat domains protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8TC84 [Term] id: PR:000032554 name: low-density lipoprotein receptor class A domain-containing protein 3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q86YD5 [Term] id: PR:000032559 name: muscular LMNA-interacting protein comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5VWP3 [Term] id: PR:000032561 name: CUE domain-containing protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9NWM3 [Term] id: PR:000032566 name: torsin-4A comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9NXH8 [Term] id: PR:000032567 name: acyl-CoA-binding domain-containing protein 7 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N6N7 [Term] id: PR:000032568 name: G antigen 12F comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P0CL80 [Term] id: PR:000032571 name: CST complex subunit TEN1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q86WV5 [Term] id: PR:000032572 name: sesquipedalian-2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6ICB4 [Term] id: PR:000032578 name: phosphoribosyltransferase domain-containing protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9NRG1 [Term] id: PR:000032583 name: MANSC domain-containing protein 4 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:A6NHS7 [Term] id: PR:000032629 name: nuclear envelope phosphatase-regulatory subunit 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N9A8 [Term] id: PR:000032630 name: coiled-coil domain-containing protein 89 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N998 [Term] id: PR:000032636 name: zona pellucida-like domain-containing protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8TCW7 [Term] id: PR:000032648 name: chemokine-like protein TAFA-4 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96LR4 [Term] id: PR:000032649 name: arrestin domain-containing protein 3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96B67 [Term] id: PR:000032652 name: WAP four-disulfide core domain protein 10A comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9H1F0 [Term] id: PR:000032654 name: acidic leucine-rich nuclear phosphoprotein 32 family member C comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:O43423 [Term] id: PR:000032655 name: spermatogenesis-associated protein 24 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q86W54 [Term] id: PR:000032657 name: BTB/POZ domain-containing protein KCTD17 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N5Z5 [Term] id: PR:000032661 name: transmembrane protein 52B comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q4KMG9 [Term] id: PR:000032670 name: V-set and immunoglobulin domain-containing protein 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96IQ7 [Term] id: PR:000032674 name: pepsin A-4 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P0DJD7 [Term] id: PR:000032682 name: lysophospholipase D GDPD1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N9F7 [Term] id: PR:000032694 name: integral membrane protein 2A comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:O43736 [Term] id: PR:000032699 name: motile sperm domain-containing protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9UJG1 [Term] id: PR:000032702 name: IQ domain-containing protein F3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P0C7M6 [Term] id: PR:000032705 name: EMI domain-containing protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96A84 [Term] id: PR:000032711 name: protein Aster-C comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8IYS0 [Term] id: PR:000032714 name: sentan comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:A6NMZ2 [Term] id: PR:000032728 name: Ly6/PLAUR domain-containing protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N2G4 [Term] id: PR:000032729 name: epididymal secretory protein E3-alpha comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q14507 [Term] id: PR:000032742 name: ATP-dependent RNA helicase DHX58 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96C10 [Term] id: PR:000032750 name: leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:A6NDA9 [Term] id: PR:000032753 name: ALK and LTK ligand 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6UX46 [Term] id: PR:000032769 name: glycolipid transfer protein domain-containing protein 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:A6NH11 [Term] id: PR:000032780 name: serine protease inhibitor Kazal-type 14 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6IE38 [Term] id: PR:000032783 name: sulfotransferase 1E1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P49888 [Term] id: PR:000032787 name: tetratricopeptide repeat protein 9A comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q92623 [Term] id: PR:000032801 name: arginine-hydroxylase NDUFAF5, mitochondrial comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5TEU4 [Term] id: PR:000032806 name: protein shisa-like-2A comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6UWV7 [Term] id: PR:000032815 name: neuferricin comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8WUJ1 [Term] id: PR:000032818 name: fibrinogen C domain-containing protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N539 [Term] id: PR:000032820 name: TraB domain-containing protein comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9H4I3 [Term] id: PR:000032824 name: tRNA wybutosine-synthesizing protein 5 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:A2RUC4 [Term] id: PR:000032829 name: DnaJ homolog subfamily C member 18 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9H819 [Term] id: PR:000034836 name: low-density lipoprotein receptor class A domain-containing protein 4 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:O15165 [Term] id: PR:000036367 name: protein C14orf166 comment: Category=gene. Note: Top down proteomics. Evidence=(ECO:0000006). is_a: CHEBI:36080 ! protein [Term] id: PR:000036864 name: neurexin-2-beta comment: Category=seqgroup. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P58401 [Term] id: PR:000036865 name: neurexin-3-alpha comment: Category=seqgroup. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9Y4C0 [Term] id: PR:000037015 name: alpha-amylase 1 comment: Category=gene. Note: The human AMY1A, AMY1B, and AMY1C genes encode identical proteins. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P04745 [Term] id: PR:000037037 name: testis-specific chromodomain protein Y 1 comment: Category=gene. Note: The human CDY1 and CDY1B genes encode identical proteins. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9Y6F8 [Term] id: PR:000038631 name: fructose-2,6-bisphosphatase TIGAR comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9NQ88 [Term] id: PR:000039135 name: protein Hikeshi comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q53FT3 [Term] id: PR:000044781 name: pregnancy-specific beta-1-glycoprotein 7 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q13046 [Term] id: PR:000045517 name: myeloid-derived growth factor comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q969H8 [Term] id: PR:000050026 name: hemoglobin subunit beta comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P68871 [Term] id: PR:000050571 name: spermatogenesis-associated protein 33 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96N06 [Term] id: PR:000059674 name: TLD domain-containing protein 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:A0PJX2 [Term] id: PR:000059676 name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:A1L188 [Term] id: PR:000059686 name: glutaredoxin-like protein C5orf63 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:A6NC05 [Term] id: PR:000059695 name: single-pass membrane and coiled-coil domain-containing protein 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:A6NFE2 [Term] id: PR:000059699 name: small integral membrane protein 9 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:A6NGZ8 [Term] id: PR:000059710 name: cysteine-rich tail protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:A8MQ03 [Term] id: PR:000059718 name: endosome/lysosome-associated apoptosis and autophagy regulator family member 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:A8MWY0 [Term] id: PR:000059732 name: protein Frey comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:C9JXX5 [Term] id: PR:000059739 name: protein FAM229A comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:H3BQW9 [Term] id: PR:000059750 name: clustered mitochondria protein homolog comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:O75153 [Term] id: PR:000059751 name: small integral membrane protein 24 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:O75264 [Term] id: PR:000059760 name: small integral membrane protein 13 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:P0DJ93 [Term] id: PR:000059771 name: uncharacterized protein C17orf67 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q0P5P2 [Term] id: PR:000059775 name: leucine-rich repeat-containing protein 74A comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q0VAA2 [Term] id: PR:000059781 name: single-pass membrane and coiled-coil domain-containing protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q147U7 [Term] id: PR:000059782 name: HUWE1-associated protein modifying stress responses comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q14CZ0 [Term] id: PR:000059789 name: UPF0561 protein C2orf68 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q2NKX9 [Term] id: PR:000059810 name: UPF0692 protein C19orf54 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5BKX5 [Term] id: PR:000059820 name: spermatogenesis-associated protein 46 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5T0L3 [Term] id: PR:000059829 name: uncharacterized protein C1orf185 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5T7R7 [Term] id: PR:000059837 name: succinate dehydrogenase assembly factor 4, mitochondrial comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q5VUM1 [Term] id: PR:000059855 name: uncharacterized protein C11orf87 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6NUJ2 [Term] id: PR:000059862 name: protein LEG1 homolog comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6P5S2 [Term] id: PR:000059873 name: uncharacterized protein C5orf46 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6UWT4 [Term] id: PR:000059874 name: bombesin receptor-activated protein C6orf89 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6UWU4 [Term] id: PR:000059878 name: angiopoietin-like protein 8 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6UXH0 [Term] id: PR:000059900 name: ciliogenesis-associated TTC17-interacting protein comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q7Z7H3 [Term] id: PR:000059909 name: protein HID1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8IV36 [Term] id: PR:000059918 name: lung adenoma susceptibility protein 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8IYD9 [Term] id: PR:000059920 name: uncharacterized protein KIAA2013 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8IYS2 [Term] id: PR:000059921 name: dynein axonemal assembly factor 8 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8IYS4 [Term] id: PR:000059936 name: uncharacterized protein C2orf73 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N5S3 [Term] id: PR:000059943 name: leucine-rich single-pass membrane protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N8F7 [Term] id: PR:000059944 name: uncharacterized protein FAM241A comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N8J7 [Term] id: PR:000059947 name: nutritionally-regulated adipose and cardiac enriched protein homolog comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N912 [Term] id: PR:000059953 name: keratinocyte differentiation factor 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8NAX2 [Term] id: PR:000059963 name: transmembrane protein C1orf162 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8NEQ5 [Term] id: PR:000059965 name: telomere repeats-binding bouquet formation protein 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8NHR7 [Term] id: PR:000059971 name: uncharacterized protein CXorf38 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8TB03 [Term] id: PR:000059974 name: meiosis 1 arrest protein comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8TC57 [Term] id: PR:000059975 name: UPF0729 protein C18orf32 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8TCD1 [Term] id: PR:000059979 name: UPF0235 protein C15orf40 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8WUR7 [Term] id: PR:000059991 name: uncharacterized protein KIAA1143 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96AT1 [Term] id: PR:000059994 name: protein FAM241B comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96D05 [Term] id: PR:000060002 name: D-aminoacyl-tRNA deacylase 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96FN9 [Term] id: PR:000060010 name: fatty acid hydroxylase domain-containing protein 2 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96IV6 [Term] id: PR:000060013 name: uncharacterized protein C4orf36 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96KX1 [Term] id: PR:000060019 name: caspase recruitment domain-containing protein 19 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96LW7 [Term] id: PR:000060023 name: bMERB domain-containing protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96MC5 [Term] id: PR:000060031 name: protein GUCD1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96NT3 [Term] id: PR:000060034 name: methyltransferase-like 26 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q96S19 [Term] id: PR:000060037 name: U6 snRNA phosphodiesterase comment: Category=gene. is_a: CHEBI:36080 ! protein [Term] id: PR:000060039 name: cytochrome b-245 chaperone 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9BQA9 [Term] id: PR:000060042 name: cilia- and flagella-associated protein 300 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9BRQ4 [Term] id: PR:000060050 name: arginine/serine-rich protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9BUV0 [Term] id: PR:000060053 name: uncharacterized protein C1orf50 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9BV19 [Term] id: PR:000060060 name: UPF0193 protein EVG1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9BZE7 [Term] id: PR:000060061 name: small integral membrane protein 3 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9BZL3 [Term] id: PR:000060068 name: speriolin-like protein comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9H0A9 [Term] id: PR:000060072 name: augurin comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9H1Z8 [Term] id: PR:000060076 name: UPF0696 protein C11orf68 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9H3H3 [Term] id: PR:000060077 name: mitochondrial translation release factor in rescue comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9H3J6 [Term] id: PR:000060078 name: uncharacterized protein C1orf198 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9H425 [Term] id: PR:000060081 name: centriolar satellite-associated tubulin polyglutamylase complex regulator 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9H6J7 [Term] id: PR:000060088 name: Mth938 domain-containing protein comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9H7C9 [Term] id: PR:000060090 name: required for drug-induced death protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9H7X2 [Term] id: PR:000060098 name: MYG1 exonuclease comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9HB07 [Term] id: PR:000060130 name: SCP2 sterol-binding domain-containing protein 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9UJQ7 [Term] id: PR:000060131 name: uncharacterized protein C3orf18 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9UK00 [Term] id: PR:000060136 name: major intrinsically disordered Notch2-binding receptor 1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9UPX6 [Term] id: PR:000060145 name: trafficking protein particle complex subunit 13 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:A5PLN9 [Term] id: PR:000060148 name: S-adenosylmethionine sensor upstream of mTORC1 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q1RMZ1 [Term] id: PR:000060154 name: transmembrane protein C16orf54 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q6UWD8 [Term] id: PR:000060156 name: dyslexia-associated protein KIAA0319-like protein comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8IZA0 [Term] id: PR:000060157 name: carnosine N-methyltransferase comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8N4J0 [Term] id: PR:000060164 name: protein MENT comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9BUN1 [Term] id: PR:000060168 name: uncharacterized protein C19orf84 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:I3L1E1 [Term] id: PR:000060173 name: protein C1orf43 comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q9BWL3 [Term] id: PR:000060181 name: type III endosome membrane protein TEMP comment: Category=gene. is_a: CHEBI:36080 ! protein property_value: https://w3id.org/semapv/vocab/crossSpeciesExactMatch PR:Q8IVY1 [Term] id: PR:A1A4F0 name: putative uncharacterized protein SLC66A1L (human) comment: Category=organism-gene. is_a: CHEBI:36080 ! protein [Term] id: PR:A1L168 name: uncharacterized protein C20orf202 (human) comment: Category=organism-gene. is_a: CHEBI:36080 ! protein [Term] id: PR:A1L170 name: uncharacterized protein C1orf226 (human) comment: Category=organism-gene. is_a: CHEBI:36080 ! protein [Term] id: PR:E0CX11 name: short transmembrane mitochondrial protein 1 (human) comment: Category=organism-gene. is_a: CHEBI:36080 ! protein [Term] id: PR:K9M1U5 name: interferon lambda-4 (human) comment: Category=organism-gene. is_a: CHEBI:36080 ! protein [Term] id: PR:O60449 name: lymphocyte antigen 75 isoform 4 and LY75-CD302 fusion isoforms V34-2/V33-2 (human) comment: Category=organism-seqgroup. is_a: CHEBI:36080 ! protein [Term] id: PR:P01602 name: immunoglobulin kappa variable 1-5 (human) comment: Category=organism-gene. is_a: CHEBI:36080 ! protein [Term] id: PR:P0CG32 name: zinc finger CCHC domain-containing protein 18 (human) comment: Category=organism-gene. is_a: CHEBI:36080 ! protein [Term] id: PR:P0DP42 name: transmembrane protein 225B (human) comment: Category=organism-gene. is_a: CHEBI:36080 ! protein [Term] id: PR:P30203 name: T-cell differentiation antigen CD6 (human) comment: Category=organism-gene. is_a: CHEBI:36080 ! protein [Term] id: PR:P57076 name: cilia- and flagella-associated protein 298 (human) comment: Category=organism-gene. is_a: CHEBI:36080 ! protein [Term] id: PR:P59665 name: neutrophil defensin 1 (human) comment: Category=organism-gene. Note: The DEFA1 and DEFA1B genes encode identical proteins. is_a: CHEBI:36080 ! protein [Term] id: PR:P59666 name: neutrophil defensin 3 (human) comment: Category=organism-gene. is_a: CHEBI:36080 ! protein [Term] id: PR:Q01523 name: defensin alpha 5 (human) comment: Category=organism-gene. is_a: CHEBI:36080 ! protein [Term] id: PR:Q15053 name: uncharacterized protein KIAA0040 (human) comment: Category=organism-gene. is_a: CHEBI:36080 ! protein [Term] id: PR:Q56UQ5 name: TPT1-like protein (human) comment: Category=organism-gene. is_a: CHEBI:36080 ! protein [Term] id: PR:Q6MZM9 name: proline-rich protein 27 (human) comment: Category=organism-gene. is_a: CHEBI:36080 ! protein [Term] id: PR:Q6PL45 name: BRICHOS domain-containing protein 5 (human) comment: Category=organism-gene. is_a: CHEBI:36080 ! protein [Term] id: PR:Q6UXQ4 name: uncharacterized protein C2orf66 (human) comment: Category=organism-gene. is_a: CHEBI:36080 ! protein [Term] id: PR:Q6ZUB0 name: spermatogenesis-associated protein 31D4 (human) comment: Category=organism-gene. is_a: CHEBI:36080 ! protein [Term] id: PR:Q6ZVL6 name: UPF0606 protein KIAA1549L (human) comment: Category=organism-gene. is_a: CHEBI:36080 ! protein [Term] id: PR:Q6ZWK4 name: regulator of hemoglobinization and erythroid cell expansion protein (human) comment: Category=organism-gene. is_a: CHEBI:36080 ! protein [Term] id: PR:Q8IXM2 name: chromatin complexes subunit BAP18 (human) comment: Category=organism-gene. is_a: CHEBI:36080 ! protein [Term] id: PR:Q8N812 name: uncharacterized protein C12orf76 (human) comment: Category=organism-gene. is_a: CHEBI:36080 ! protein [Term] id: PR:Q8NEA5 name: uncharacterized protein C19orf18 (human) comment: Category=organism-gene. is_a: CHEBI:36080 ! protein [Term] id: PR:Q8TE69 name: protein EOLA1 (human) comment: Category=organism-gene. is_a: CHEBI:36080 ! protein [Term] id: PR:Q8TEF2 name: uncharacterized protein C10orf105 (human) comment: Category=organism-gene. is_a: CHEBI:36080 ! protein [Term] id: PR:Q8WUE5 name: cancer/testis antigen 55 (human) comment: Category=organism-gene. is_a: CHEBI:36080 ! protein [Term] id: PR:Q8WWF3 name: serine-rich single-pass membrane protein 1 (human) comment: Category=organism-gene. is_a: CHEBI:36080 ! protein [Term] id: PR:Q8WYQ4 name: uncharacterized protein C22orf15 (human) comment: Category=organism-gene. is_a: CHEBI:36080 ! protein [Term] id: PR:Q96HG1 name: small integral membrane protein 10 (human) comment: Category=organism-gene. is_a: CHEBI:36080 ! protein [Term] id: PR:Q96LM9 name: uncharacterized protein C20orf173 (human) comment: Category=organism-gene. is_a: CHEBI:36080 ! protein [Term] id: SO:0000274 name: snRNA def: "A small nuclear RNA molecule involved in pre-mRNA splicing and processing." [] synonym: "small nuclear RNA" EXACT [] xref: NCIt:C815 is_a: CHEBI:33697 ! ribonucleic acid [Term] id: SO:0000655 name: ncRNA def: "An RNA transcript that does not encode for a protein rather the RNA molecule is the gene product." [] is_a: CHEBI:33697 ! ribonucleic acid property_value: definition:citation "non coding RNA" xsd:string [Term] id: SO:0000704 name: gene def: "A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions." [] xref: NCIt:C16612 xref: SNOMEDCT:67271001 is_a: BFO:0000040 ! material entity property_value: IAO:0000117 "SO editors" xsd:string [Term] id: South:Korea name: South Korea synonym: "Republic of Korea" EXACT [] xref: GAZ:00002802 is_a: HANCESTRO:0003 {http://purl.org/dc/terms/contributor="http://e-lico.eu/populous#OPPL_pattern"} ! country [Term] id: TO:0000259 name: heat tolerance def: "Tolerance to warm temperatures if plant is exposed to above than permissive temperature limits. Observe differences in vigor along with subtle changes in leaf color. The optimum time to make observations would be the seedling, tillering (sensu Poaceae), flowering and mature stages. Mainly scored in terms of spikelet fertility in grasses." [] synonym: "Htol" EXACT [] is_a: TO:0000387 ! plant trait property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: TO:0000387 name: plant trait def: "A measurable or observable characteristic of a cellular component (GO:0005575), biological process (GO:0008150) or molecular function (GO:0003674) that is part of, or has participant a plant anatomical entity (PO:0025131) and/or a plant structure development stage (PO:0009012)." [] comment: This includes physiological, molecular and biochemical traits as well. synonym: "plant phenotype" EXACT [] synonym: "plant quality" EXACT [] is_a: BFO:0000019 ! quality property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string [Term] id: UBERON:0000002 name: uterine cervix namespace: uberon def: "Lower, narrow portion of the uterus where it joins with the top end of the vagina." [http://orcid.org/0000-0002-6601-2165, Wikipedia:Cervix] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "canalis cervicis uteri" EXACT LATIN [FMA:17740, FMA:TA] synonym: "caudal segment of uterus" EXACT [] synonym: "cervical canal" RELATED [FMA:17740] synonym: "cervical canal of uterus" EXACT [FMA:17740] synonym: "cervix" BROAD [EFO:0000979] synonym: "cervix of uterus" RELATED [BTO:0001421] synonym: "cervix uteri" EXACT LATIN [EMAPA:29927] synonym: "neck of uterus" EXACT [FMA:17740] synonym: "uterine cervix" EXACT [FMA:17740] xref: BTO:0001421 xref: BTO:0002249 xref: CALOHA:TS-0134 xref: EFO:0000979 xref: EMAPA:29927 xref: EV:0100114 xref: FMA:17740 xref: GAID:376 xref: galen:CervixUteri xref: MA:0000392 xref: MAT:0000292 xref: MESH:D002584 xref: NCIT:C12311 xref: SCTID:181453009 xref: UMLS:C0007874 {source="ncithesaurus:Cervix"} xref: VHOG:0001359 xref: Wikipedia:Cervix is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000990 ! reproductive system relationship: part_of UBERON:0000995 ! uterus property_value: external_definition "The narrow caudal end of the uterus that opens into the vagina. [TFD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001359", ontology="VHOG", source="http://bgee.unil.ch/", source="http://medical-dictionary.thefreedictionary.com/uterine+cervix"} property_value: has_relational_adjective "cervical" xsd:string property_value: homology_notes "The evolution of mammals is associated with radical changes in their reproductive biology, particularly the structure and function of the female reproductive organs. These changes include the evolution of the uterus, cervix, vagina, placenta and specialized cell types associated with each of those structures.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001359", ontology="VHOG", source="DOI:10.1098/rspb.2004.2848 Lynch VJ, Roth JJ, Takahashi K, Dunn CW, Nonaka DF, Stopper GF, Wagner GP, Adaptive evolution of HoxA-11 and HoxA-13 at the origin of the uterus in mammals. Proceedings of the Royal Society of London, Series B (2004)", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0000004 name: nose namespace: uberon def: "The olfactory organ of vertebrates, consisting of nares, olfactory epithelia and the structures and skeletal framework of the nasal cavity." [UBERON:cjm] subset: efo_slim subset: major_organ subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "nasal sac" EXACT SENSU [ZFA:0000047] synonym: "nasus" RELATED LATIN [Wikipedia:Nose] synonym: "nose" EXACT HUMAN_PREFERRED [MA:0000281] synonym: "olfactory apparatus" RELATED [UBERON:cjm] synonym: "peripheral olfactory organ" EXACT [ZFA:0000047] synonym: "proboscis" RELATED [] xref: BTO:0000840 xref: CALOHA:TS-2037 xref: EHDAA2:0001274 xref: EHDAA:1502 xref: EMAPA:16542 xref: EV:0100037 xref: EV:0100370 xref: FMA:46472 xref: GAID:77 xref: galen:Nose xref: MA:0000281 xref: MAT:0000139 xref: MESH:D009666 xref: MIAA:0000139 xref: NCIT:C12756 xref: SCTID:181195007 xref: TAO:0000047 xref: UMLS:C0028429 {source="ncithesaurus:Nose"} xref: Wikipedia:Nose xref: ZFA:0000047 is_a: EFO:0000792 ! craniofacial tissue relationship: part_of EFO:0000792 ! craniofacial tissue relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0001032 ! sensory system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/d/d0/Canine-nose.jpg xsd:anyURI property_value: external_definition "a protuberance in vertebrates that houses the nostrils, or nares, which admit and expel air for respiration in conjunction with the mouth. Behind the nose are the olfactory mucosa and the sinuses. Behind the nasal cavity, air next passes through the pharynx, shared with the digestive system, and then into the rest of the respiratory system. In humans, the nose is located centrally on the face; on most other mammals, it is on the upper tip of the snout[WP]. GO: The nose is the specialized structure of the face that serves as the organ of the sense of smell and as part of the respiratory system. Includes the nasi externus (external nose) and cavitas nasi (nasal cavity)[Wikipedia:Nose]." xsd:string {source="Wikipedia:Nose"} property_value: external_definition "Organ that is the specialized structure of the face that contains olfactory neurons. The peripheral olfactory organ is paired[ZFA:0000047]." xsd:string {source="ZFA:0000047"} property_value: external_definition "the organ that is specialized for smell and is part of the respiratory system" xsd:string {source="MP:0002233"} property_value: taxon_notes "the structure of the nose varies across vertebrates. In tetrapods the nose is part of the respiratory system.[PMID:25312359]" xsd:string [Term] id: UBERON:0000006 name: islet of Langerhans namespace: uberon def: "The clusters of hormone-producing cells that are scattered throughout the pancreas." [MA:0000127, MESH:A03.734.414, MP:0005215] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "island of Langerhans" RELATED [BTO:0000991] synonym: "island of pancreas" RELATED [BTO:0000991] synonym: "islets of Langerhans" RELATED [] synonym: "pancreatic insula" EXACT [] synonym: "pancreatic islet" EXACT [] xref: AAO:0010406 xref: BTO:0000991 xref: CALOHA:TS-0741 xref: EFO:0000856 xref: EMAPA:32927 xref: EV:0100130 xref: FMA:16016 xref: GAID:324 xref: MA:0000127 xref: MAT:0000076 xref: MESH:D007515 xref: MIAA:0000076 xref: NCIT:C12608 xref: UMLS:C0022131 {source="ncithesaurus:Islet_of_Langerhans"} xref: VHOG:0000646 xref: Wikipedia:Islets_of_Langerhans xref: XAO:0000159 is_a: EFO:0003861 ! pancreactic component relationship: part_of UBERON:0000016 ! endocrine pancreas relationship: part_of UBERON:0001264 ! pancreas relationship: UBPROP:0000202 FMA:76489 ! fma_set_term property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/9/99/Gray1105.png xsd:anyURI property_value: external_definition "Anatomical structure which consists of glands developed from pancreatic ducts in the larvae and secrete insulin.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010406", ontology="AAO", source="AAO:BJB"} property_value: homology_notes "Mammals, birds, reptiles and amphibians have a pancreas with similar histology and mode of development, while in some fish, the islet cells are segregated as Brockmann bodies.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000646", ontology="VHOG", source="PMID:7600975 Slack JMW, Developmental biology of the pancreas. Development (1995)", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "A primitive exocrine pancreas can be found in holocephalan cartilaginous fish; a pancreatic duct directly ending in the gut lumen is connected to a glandular structure made of exocrine cells and associated with cell islets, which comprises three different hormone-producing cell types: insulin, somatostatin and glucagon (Yui and Fujita, 1986)" xsd:string {source="PMID:16417468"} [Term] id: UBERON:0000007 name: pituitary gland namespace: uberon def: "The pituitary gland is an endocrine gland that secretes hormones that regulate many other glands [GO]. An endocrine gland located ventral to the diencephalon and derived from mixed neuroectodermal and non neuroectodermal origin [ZFIN]." [Wikipedia:Pituitary_gland, ZFIN:curator] comment: Terminology note: hypophysis and pituitary gland are often used informally as synonyms, but the hypophysis also includes the small infundibular or pituitary stalk[Neumann 2020] subset: efo_slim subset: organ_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "glandula pituitaria" EXACT LATIN [Wikipedia:Pituitary_gland] synonym: "Hp" BROAD ABBREVIATION [BIRNLEX:1353, NIFSTD:NeuroNames_abbrevSource] synonym: "hypophysis" RELATED [ZFA:0000118] synonym: "hypophysis cerebri" RELATED [MA:0000176] synonym: "pituitary" EXACT [BTO:0001073] synonym: "pituitary body" EXACT [BTO:0001073] xref: AAO:0010536 xref: BAMS:PIT xref: BAMS:Pit xref: BIRNLEX:1353 xref: BM:Die-Hy-HY xref: BTO:0001073 xref: CALOHA:TS-0798 xref: DHBA:10505 xref: EFO:0000857 xref: EHDAA2:0001471 xref: EHDAA:2183 xref: EHDAA:4477 xref: EMAPA:35998 xref: EV:0100132 xref: FMA:13889 xref: GAID:457 xref: HBA:4634 xref: MA:0000176 xref: MAT:0000077 xref: MESH:D010902 xref: MIAA:0000077 xref: NCIT:C12399 xref: neuronames:399 {source="BIRNLEX:1353"} xref: SCTID:181125003 xref: TAO:0000118 xref: UMLS:C0032005 {source="ncithesaurus:Pituitary_Gland", source="BIRNLEX:1353"} xref: VHOG:0000143 xref: Wikipedia:Pituitary_gland xref: XAO:0000017 xref: ZFA:0000118 is_a: UBERON:0002368 ! endocrine gland relationship: part_of UBERON:0001894 ! diencephalon property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/9/97/Gray1180.png xsd:anyURI property_value: external_definition "An endocrine gland derived from infundibulum of the floor of the diencephalon and an ectodermal dorsal protrusion from the buccal cavity which controls the secretion of many hormones influencing the function of various organs of the body.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010536", ontology="AAO", source="AAO:BJB"} property_value: external_definition "An endocrine gland located ventral to the diencephalon and derived from mixed neuroectodermal and non neuroectodermal origin.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000118", ontology="TAO", source="ZFIN:curator"} property_value: homology_notes "It (the hypophysis) develops embryonically in all vertebrates from two ectodermal evaginations that meet and unite. (...) A well-developed hypophyseal system with functional connections to the hypothalamus is unique to craniates.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000143", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.510", source="http://bgee.unil.ch/"} property_value: taxon_notes "The lamprey possesses a distinct pituitary organ and hormones, the ascidian does not show distinct evidence of them [Sower S, Freamat M, Kavanaugh S. The origins of the vertebrate hypothalamic-pituitary-gonadal (HPG) and hypothalamic-pituitary-thyroid (HPT) endocrine systems: new insights from lampreys. Gen Comp Endocrinol 2009;161:20-9]" xsd:string [Term] id: UBERON:0000010 name: peripheral nervous system namespace: uberon def: "A major division of the nervous system that contains nerves which connect the central nervous system (CNS) with sensory organs, other organs, muscles, blood vessels and glands." [GO:0007422] subset: cumbo subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "pars peripherica" EXACT LATIN [FMA:9903, FMA:TA, Wikipedia:Peripheral_nervous_system] synonym: "PNS" BROAD ABBREVIATION [] synonym: "systema nervosum periphericum" EXACT LATIN [FMA:9903, FMA:TA, Wikipedia:Peripheral_nervous_system] xref: AAO:0000429 xref: BAMS:PNS xref: BILA:0000081 xref: BIRNLEX:1111 xref: BTO:0001028 xref: CALOHA:TS-0808 xref: EFO:0000891 xref: EHDAA2:0001445 xref: EHDAA:2893 xref: EMAPA:16665 xref: EV:0100335 xref: FBbt:00005098 xref: FMA:9903 xref: GAID:715 xref: MA:0000218 xref: MAT:0000338 xref: MESH:D017933 xref: MIAA:0000338 xref: NCIT:C12465 xref: neuronames:3232 xref: SCTID:362292005 xref: TAO:0000142 xref: UMLS:C0206417 {source="ncithesaurus:Peripheral_Nervous_System", source="BIRNLEX:1111"} xref: UMLS:C1305921 {source="BIRNLEX:1111"} xref: VHOG:0000399 xref: Wikipedia:Peripheral_nervous_system xref: XAO:0000178 xref: ZFA:0000142 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001016 ! nervous system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/b/ba/Nervous_system_diagram.png xsd:anyURI property_value: external_definition "Nervous structures including ganglia outside of the central nervous system. Kimmel et al, 1995.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000142", ontology="TAO", source="ZFIN:curator"} property_value: external_definition "Part of nervous system in which nerves extend throughout the body outside of the brain and spinal cord.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000429", ontology="AAO", source="AAO:BJB"} property_value: external_definition "The peripheral nervous system (PNS) is the part of the nervous system connected to the CNS which contains cranial nerves III - XII, spinal, peripheral and autonomic nerves. (CUMBO)" xsd:string {source="http://neurolex.org/wiki/Cumbo_terms"} property_value: homology_notes "(...) specific vertebrate traits within the chordate phylum such as skeletal tissues, PNS, and spectacular head and brain development, are linked to the NC (neural crest) and its derivatives.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000399", ontology="VHOG", source="DOI:10.1007/978-0-387-46954-6_6 Dupin E, Creuzet S, Le Douarin NM, The contribution of the neural crest to the vertebrate body. Advances in experimental medicine and biology (2006)", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0000011 name: parasympathetic nervous system namespace: uberon def: "The parasympathetic nervous system is one of the two divisions of the vertebrate autonomic nervous system. Parasympathetic nerves emerge cranially as pre ganglionic fibers from oculomotor, facial, glossopharyngeal and vagus and from the sacral region of the spinal cord. Most neurons are cholinergic and responses are mediated by muscarinic receptors. The parasympathetic system innervates, for example: salivary glands, thoracic and abdominal viscera, bladder and genitalia[GO]." [GO:0048486] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "parasympathetic part of autonomic division of nervous system" EXACT [] synonym: "pars parasympathica divisionis autonomici systematis nervosi" EXACT LATIN [FMA:9907, FMA:TA] synonym: "pars parasympathica divisionis autonomici systematis nervosi" RELATED LATIN [Wikipedia:Parasympathetic_nervous_system] synonym: "PNS - parasympathetic" EXACT [] xref: AAO:0010488 xref: BIRNLEX:2517 xref: BTO:0001833 xref: CALOHA:TS-2094 xref: EFO:0000894 xref: EHDA:10096 xref: EHDAA2:0001402 xref: EHDAA:4655 xref: EMAPA:17270 xref: FMA:9907 xref: GAID:708 xref: MA:0000223 xref: MAT:0000101 xref: MESH:D010275 xref: MIAA:0000101 xref: NCIT:C12764 xref: SCTID:362496006 xref: TAO:0001575 xref: UMLS:C0030510 {source="BIRNLEX:2517", source="ncithesaurus:Parasympathetic_Nervous_System"} xref: UMLS:C1305770 {source="BIRNLEX:2517"} xref: VHOG:0000755 xref: Wikipedia:Parasympathetic_nervous_system xref: ZFA:0001575 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000467 ! anatomical system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/f/f7/Gray839.png xsd:anyURI property_value: external_definition "Part of the autonomic nervous system which has opposing physiological effects of the sympathetic nervous system. Examples include decreasing the heart rate or dilating the blood vessels.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010488", ontology="AAO", source="AAO:BJB"} property_value: homology_notes "In mammals, the autonomic nervous system is divided into two contrasting, antagonistic systems of control over visceral activity: the sympathetic system and the parasympathetic system (reference 1); In general, the teleosts may be considered phylogenetically the first class of vertebrates in which the heart is regulated by both sympathetic and parasympathetic neural pathways (reference 2).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000755", ontology="VHOG", source="ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.634, DOI:10.1016/S0306-4530(98)00057-2 Porges SW, Love: an emergent property of the mammalian autonomic nervous system. Psychoneuroendocrinology (1998)", source="http://bgee.unil.ch/"} [Term] id: UBERON:0000013 name: sympathetic nervous system namespace: uberon def: "The sympathetic nervous system is one of the two divisions of the vertebrate autonomic nervous system (the other being the parasympathetic nervous system). The sympathetic preganglionic neurons have their cell bodies in the thoracic and lumbar regions of the spinal cord and connect to the paravertebral chain of sympathetic ganglia. Innervate heart and blood vessels, sweat glands, viscera and the adrenal medulla. Most sympathetic neurons, but not all, use noradrenaline as a post-ganglionic neurotransmitter [GO]." [GO:0048485] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "pars sympathica divisionis autonomici systematis nervosi" EXACT LATIN [FMA:9906, FMA:TA] synonym: "pars sympathica divisionis autonomici systematis nervosi" RELATED LATIN [Wikipedia:Sympathetic_nervous_system] synonym: "sympathetic nervous system" EXACT [] synonym: "sympathetic part of autonomic division of nervous system" EXACT [] xref: AAO:0010487 xref: BIRNLEX:2516 xref: BTO:0001832 xref: CALOHA:TS-2050 xref: EFO:0000893 xref: EHDAA2:0001971 xref: EHDAA:3769 xref: EMAPA:16985 xref: FMA:9906 xref: GAID:710 xref: MA:0000225 xref: MESH:D013564 xref: MIAA:0000100 xref: NCIT:C12795 xref: SCTID:362484004 xref: TAO:0001576 xref: UMLS:C0039044 {source="BIRNLEX:2516", source="ncithesaurus:Sympathetic_Nervous_System"} xref: UMLS:C1269646 {source="BIRNLEX:2516"} xref: VHOG:0000384 xref: Wikipedia:Sympathetic_nervous_system xref: ZFA:0001576 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000467 ! anatomical system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/7/77/Gray838.png xsd:anyURI property_value: external_definition "Part of the autonomic nervous system which has opposing physiological effects of the parasympathetic nervous system. Examples include increasing the heart rate or constricting the blood vessels.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010487", ontology="AAO", source="AAO:BJB"} property_value: external_definition "The part of the autonomic nervous system which chiefly contains adrenergic fibres and tends to control and reduce secretions, decrease the contractility and hence the tone of smooth muscles and provoke the contraction of blood vessels. Essentially, it consists of preganglionic fibres from the thoracic and upper lumbar parts of the spinal cord. These fibres, by means of delicate rami communicantes, cross over to ganglia sited in a pair of ganglionated cords on each side of the vertebral column or to more peripheral ganglia. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000384", ontology="VHOG", source="http://bgee.unil.ch/"} property_value: homology_notes "The autonomic nervous system is composed of three divisions: the sympathetic division, the parasympathetic division, and the enteric division. (...) In ray-finned teleost fishes, a sympathetic chain is present, and dual innervation of additional organs can be observed. A similar pattern can be found in amphibians (...). The evolution of the autonomic nervous system has been quite conservative, especially in the tetrapod lineage.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000384", ontology="VHOG", source="ISBN:978-0471210054 Butler AB and Hodos W, Comparative vertebrate neuroanatomy: Evolution and Adaptation (2005) p.461-463", source="http://bgee.unil.ch/"} property_value: UBPROP:0000011 "has developmental contribution from NC in verteberates (https://github.com/obophenotype/uberon/wiki/The-neural-crest)" xsd:string [Term] id: UBERON:0000014 name: zone of skin namespace: uberon def: "Any portion of the organ that covers that body and consists of a layer of epidermis and a layer of dermis." [http://orcid.org/0000-0002-6601-2165, Wikipedia:Skin] subset: pheno_slim synonym: "portion of skin" EXACT [] synonym: "region of skin" EXACT [] synonym: "skin" EXACT [MA:0000151] synonym: "skin region" EXACT [] synonym: "skin zone" EXACT [] xref: EHDAA2:0001844 xref: EHDAA:6530 xref: EMAPA:17525 xref: EV:0100152 xref: FMA:86166 xref: GAID:933 xref: MA:0000151 xref: MAT:0000284 xref: MESH:D012867 xref: MIAA:0000284 xref: SCTID:20795001 xref: VHOG:0000860 xref: Wikipedia:Skin is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0002097 ! skin of body property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/6/6d/Skin.svg xsd:anyURI property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/e/e8/HumanSkinDiagram.jpg xsd:anyURI property_value: homology_notes "(...) it is well-established that neural crest cells contribute to both the dermal skeleton (craniofacial bone, teeth, and the caudal fin rays of teleosts) and the integument, including craniofacial dermis and all pigment cells outside the retina (...).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000860", ontology="VHOG", source="DOI:10.1111/j.1469-7580.2008.01043.x Vickaryous MK, Sire JY, The integumentary skeleton of tetrapods: origin, evolution, and development. J Anat (2009)", source="http://bgee.unil.ch/"} property_value: IAO:0000232 "Note the distinction between the entire skin of the body, of which there is only 1 in an organism, and zones of skin, of which there can be many. Examples: skin of knee" xsd:string property_value: UBPROP:0000012 "we assume that mouse, HOG and GAID all mean zone of skin when they say skin. We also choose skin as an exact synonym, as it is more intuitive" xsd:string [Term] id: UBERON:0000016 name: endocrine pancreas namespace: uberon def: "The part of the pancreas that is part of the endocrine system and is made up of islet cells, which produce insulin, glucagon and somatostatin." [GO:GO, http://orcid.org/0000-0002-6601-2165] subset: efo_slim subset: human_reference_atlas subset: organ_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "endocrine pancreas" EXACT [] synonym: "endocrine part of pancreas" RELATED [BTO:0000650] synonym: "islets of Langerhans part of pancreas" RELATED [] synonym: "pars endocrina pancreatis" EXACT [] xref: BTO:0000650 xref: CALOHA:TS-1302 xref: EFO:0002542 xref: EMAPA:35305 xref: EV:0100129 xref: FMA:16018 xref: MA:0001582 xref: NCIT:C32509 xref: SCTID:361339003 xref: TAO:0001260 xref: VHOG:0000049 xref: Wikipedia:Islets_of_Langerhans xref: ZFA:0001260 is_a: CL:0000151 ! secretory cell is_a: EFO:0003861 ! pancreactic component relationship: part_of UBERON:0000949 ! endocrine system relationship: part_of UBERON:0001264 ! pancreas property_value: external_definition "The part of the pancreas that acts as an endocrine gland, consisting of the islets of Langerhans, which secrete insulin and other hormones. [TFD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000049", ontology="VHOG", source="http://bgee.unil.ch/", source="http://medical-dictionary.thefreedictionary.com/Pancreas"} property_value: external_definition "The zebrafish endocrine pancreas is composed of small groups of islet cells that are distributed throughout the exocrine pancreas. The islet cells produce insulin, glucagon and somatostatin.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0001260", ontology="TAO", source="ZFIN:curator"} property_value: homology_notes "In the hagfish and lampreys (our most primitive vertebrate species of today), the first sign of 'a new organ' is found as collections of endocrine cells around the area of the bile duct connection with the duodenum. These endocrine organs are composed of 99% beta cells and 1% somatostatin-producing delta cells. Compared to the more primitive protochordates (e.g. amphioxus), this represents a stage where all previously scattered insulin-producing cells of the intestinal tissue have now quantitatively migrated to found a new organ involved in sensing blood glucose rather than gut glucose. Only later in evolution, the beta cells are joined by exocrine tissue and alpha cells (exemplified by the rat-, rabbit- and elephant-fishes). Finally, from sharks and onwards in evolution, we have the islet PP-cell entering to complete the pancreas.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000049", ontology="VHOG", source="DOI:10.1016/j.crvi.2007.03.006 Madsen OD, Pancreas phylogeny and ontogeny in relation to a 'pancreatic stem cell'. C.R. Biologies (2007)", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "create a separate class for distributed pancreas, eg cyclostomes?" xsd:string property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "endocrine and exocrine pancreas are not co-associated in hagfishes or lampreys" xsd:string {source="PMID:20959416"} [Term] id: UBERON:0000022 name: feather namespace: uberon def: "One of the epidermal growths that form the distinctive outer covering, or plumage, on birds. Feathers are formed in tiny follicles in the epidermis, or outer skin layer, that produce keratin proteins." [Wikipedia:Feather] subset: efo_slim subset: uberon_slim xref: BTO:0000447 xref: EFO:0000955 xref: GAID:1214 xref: MAT:0000156 xref: MESH:D005241 xref: SCTID:410027006 xref: Wikipedia:Feather is_a: UBERON:0000061 ! anatomical structure relationship: never_in_taxon NCBITaxon:314146 relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0002416 ! integumental system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/4/41/Parts_of_feather_modified.jpg xsd:anyURI property_value: seeAlso http://xkcd.com/1104/ xsd:anyURI property_value: taxon_notes "Among the characteristics that distinguish the extant Aves from other living groups. Feathers have also been noticed in those Theropoda which have been termed feathered dinosaurs. Although feathers cover most parts of the body of birds, they arise only from certain well-defined tracts on the skin. They aid in flight, thermal insulation, waterproofing and coloration that helps in communication and protection" xsd:string property_value: UBPROP:0000010 "The beta-keratins in feathers, beaks and claws - and the claws, scales and shells of reptiles - are composed of protein strands hydrogen-bonded into beta-pleated sheets, which are then further twisted and crosslinked by disulfide bridges into structures even tougher than the alpha-keratins of mammalian hair, horns and hoof." xsd:string [Term] id: UBERON:0000023 name: wing namespace: uberon def: "Appendage that is shaped in order to produce lift for flight through the air." [http://orcid.org/0000-0002-6601-2165] subset: efo_slim subset: grouping_class subset: uberon_slim synonym: "aliform appendage" EXACT [http://orcid.org/0000-0002-6601-2165] xref: BTO:0001463 xref: EFO:0000885 xref: GAID:1217 xref: MAT:0000202 xref: MESH:D014921 xref: MIAA:0000202 xref: Wikipedia:Wing is_a: UBERON:0000026 ! appendage relationship: never_in_taxon NCBITaxon:118072 {source="bgee"} relationship: never_in_taxon NCBITaxon:186634 {seeAlso="Wikipedia:Flying_fish", source="bgee"} relationship: never_in_taxon NCBITaxon:314147 {source="bgee"} relationship: never_in_taxon NCBITaxon:6231 {source="bgee"} relationship: never_in_taxon NCBITaxon:7878 {source="bgee"} relationship: never_in_taxon NCBITaxon:8292 {notes="we do not consider flying frogs to have wings", source="bgee"} relationship: never_in_taxon NCBITaxon:8457 {source="bgee"} relationship: never_in_taxon NCBITaxon:91561 {source="bgee"} relationship: never_in_taxon NCBITaxon:9254 {source="bgee"} relationship: never_in_taxon NCBITaxon:9263 {source="bgee"} relationship: never_in_taxon NCBITaxon:9443 {source="bgee"} relationship: never_in_taxon NCBITaxon:9606 ! Homo sapiens property_value: has_relational_adjective "alar" xsd:string property_value: taxon_notes "This class is not monophyletic. See also: GO:0007629" xsd:string [Term] id: UBERON:0000026 name: appendage namespace: uberon def: "Major subdivision of an organism that protrudes from the body[DOS, CARO]." [CARO:DOS] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "appendages" RELATED PLURAL [XAO:0000218] synonym: "extremitaet" RELATED [BTO:0001492] synonym: "extremity" RELATED [] synonym: "limbs/digits/tail" RELATED [MP:0000001] xref: AEO:0000193 xref: BILA:0000018 xref: BTO:0001492 xref: CARO:0010003 xref: EFO:0000799 xref: EHDAA2:0003193 xref: EMAPA:37283 {source="MA:th"} xref: EV:0100155 xref: FBbt:00007000 xref: HAO:0000144 xref: MAT:0000023 xref: MESH:D005121 xref: MIAA:0000023 xref: NCIT:C61460 xref: UMLS:C0598782 {source="ncithesaurus:Appendage"} xref: VSAO:0000075 xref: Wikipedia:Appendage xref: XAO:0000218 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000468 ! multicellular organism property_value: external_definition "An appendage is an external body part, or natural prolongation, that protrudes from an organism's body, such as a vertebrate's limbs[BILA][BILA:0000018]." xsd:string {source="BILA:0000018"} property_value: external_definition "Organ or organ part that is attached to the body of an organism. For example a limb[GO, modified][GO:0048736]." xsd:string {source="GO:0048736"} property_value: has_relational_adjective "appendicular" xsd:string property_value: taxon_notes "this is currently a subtype of organism subdivision - which would exclude feathers" xsd:string [Term] id: UBERON:0000029 name: lymph node namespace: uberon def: "Any of the rounded masses of lymphoid tissue that are surrounded by a capsule of connective tissue, are distributed along the lymphatic vessels, and contain numerous lymphocytes which filter the flow of lymph." [BTO:0000784] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "lymph gland" RELATED [VHOG:0001273] synonym: "nodus lymphaticus" RELATED LATIN [Wikipedia:Lymph_node] xref: BTO:0000784 xref: CALOHA:TS-0579 xref: EFO:0000872 xref: EMAPA:35523 xref: EV:0100050 xref: FMA:5034 xref: GAID:947 xref: galen:Lymphnode xref: MA:0000139 xref: MAT:0000442 xref: MESH:D008198 xref: NCIT:C12745 xref: NCIT:C33027 xref: SCTID:181756000 xref: TAO_RETIRED:0005318 xref: UMLS:C0024204 {source="ncithesaurus:Lymph_Node"} xref: VHOG:0001273 xref: Wikipedia:Lymph_node xref: ZFA_RETIRED:0005318 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0002405 ! immune system relationship: part_of UBERON:0002465 ! lymphoid system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/b/b8/Illu_lymph_node_structure.png xsd:anyURI property_value: homology_notes "Lymph nodes that are associated with the lymphatic system have evolved in mammals.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001273", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.630", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 property_value: seeAlso https://github.com/obophenotype/uberon/issues/650 xsd:anyURI [Term] id: UBERON:0000033 name: head namespace: uberon def: "The head is the anterior-most division of the body [GO]." [GO:0060322, Wikipedia:Head] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "adult head" NARROW [] synonym: "cephalic area" RELATED [SPD:0000016] synonym: "head (volume)" EXACT [FMA:7154] xref: AAO:0010335 xref: AEO:0000106 xref: BILA:0000115 xref: BIRNLEX:1230 xref: BTO:0000282 xref: CALOHA:TS-0436 xref: EFO:0000964 xref: EHDAA2:0003106 xref: EMAPA:31858 xref: FBbt:00000004 xref: FMA:7154 xref: GAID:61 xref: galen:Head xref: HAO:0000397 xref: MA:0000023 xref: MAT:0000294 xref: MESH:D006257 xref: MIAA:0000294 xref: NCIT:C12419 xref: SCTID:302548004 xref: SPD:0000016 xref: TAO:0001114 xref: TGMA:0000002 xref: UMLS:C0018670 {source="ncithesaurus:Head", source="BIRNLEX:1230"} xref: VHOG:0001644 xref: WBbt:0005739 xref: Wikipedia:Head xref: XAO:0003024 xref: ZFA:0001114 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000468 ! multicellular organism property_value: external_definition "Organism subdivision that is the part of the body consisting of the cranial and pharyngeal regions.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010335", ontology="AAO", source="AAO:BJB"} property_value: external_definition "Organism subdivision which is the part of the body which consists of the cranial and pharygeal regions.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0001114", ontology="TAO", source="ZFIN:curator"} property_value: homology_notes "Vertebrate evolution has been characterized by a fresh and vast array of cranial structures that collectively form the head.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001644", ontology="VHOG", source="ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.82", source="http://bgee.unil.ch/"} property_value: RO:0002171 UBERON:0000948 [Term] id: UBERON:0000044 name: dorsal root ganglion namespace: uberon alt_id: UBERON:0026602 def: "Sensory ganglia located on the dorsal spinal roots within the vertebral column. The spinal ganglion cells are pseudounipolar. The single primary branch bifurcates sending a peripheral process to carry sensory information from the periphery and a central branch which relays that information to the spinal cord or brain. (MSH) * ganglion found on the posterior root of each spinal nerve, composed of the unipolar nerve cell bodies of the sensory neurons of the nerve. (CSP)." [BIRNLEX:2596] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "dorsal root ganglia" RELATED PLURAL [] synonym: "dorsal root ganglion" EXACT [BTO:0001264] synonym: "DRG" RELATED ABBREVIATION [] synonym: "ganglion of dorsal root" EXACT [OBOL:automatic] synonym: "ganglion sensorium nervi spinalis" RELATED LATIN [BTO:0001264, Wikipedia:Dorsal_root_ganglion] synonym: "ganglion spinale" RELATED [BTO:0001264] synonym: "ganglion spinalis" EXACT [FMA:5888] synonym: "posterior root ganglion" RELATED [EMAPA:16668] synonym: "spinal ganglion" EXACT [FMA:5888] synonym: "spinal ganglion part of peripheral nervous system" EXACT [BIRNLEX:2598] xref: AAO:0011032 xref: BIRNLEX:2596 xref: BIRNLEX:2598 xref: BTO:0001264 xref: CALOHA:TS-0954 xref: EFO:0000900 xref: EHDAA2:0000418 xref: EHDAA2:0001897 xref: EHDAA:2899 xref: EMAPA:16667 xref: EMAPA:16668 xref: EMAPA:18372 xref: EV:0100373 xref: FMA:5888 xref: MA:0000231 xref: MA:0000232 xref: MAT:0000162 xref: MIAA:0000162 xref: NCIT:C12462 xref: SCTID:244455004 xref: TAO:0000200 xref: UMLS:C0017070 {source="ncithesaurus:Dorsal_Root_Ganglion", source="BIRNLEX:2596"} xref: VHOG:0000222 xref: Wikipedia:Dorsal_root_ganglion xref: XAO:0000210 xref: ZFA:0000200 is_a: UBERON:0000045 ! ganglion property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/7/71/DRG_Chicken_e7.jpg xsd:anyURI property_value: external_definition "Trunk ganglion which is located adjacent to the spine on a dorsal root and contains the cell bodies of afferent sensory nerves.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000200", ontology="TAO", source="ZFIN:curator"} property_value: homology_notes "From comparative analyses of craniate brains, a morphotype of the brain in the earliest craniate stock can be constructed. In marked contrast to cephalochordates, the ancestral craniate morphotype had a plethora of unique features, which included a telencephalon with pallial and subpallial parts, paired olfactory bulbs with substantial projections to most or all of the telencephalic pallium, paired lateral eyes and ears, a lateral line system for both electroreception and mechanoreception, spinal cord dorsal root ganglia, and an autonomic nervous system.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000222", ontology="VHOG", source="DOI:10.1002/1097-0185(20000615)261:3<111::AID-AR6>3.0.CO;2-F Butler AB, Chordate evolution and the origin of craniates: An old brain in a new head. AnaT Rec (New Anat) (2000)", source="http://bgee.unil.ch/"} property_value: seeAlso https://github.com/obophenotype/uberon/issues/2644 xsd:string property_value: UBPROP:0000011 "The sensory ganglia of spinal nerves arise only from the neural crest, whereas many sensory ganglia of the 'dorsal' cranial nerves arise from epibranchial placodes as well as the neural crest[DOI:10.1093/icb/icn065]" xsd:string property_value: UBPROP:0000012 "MA and EMAPA introduce distinct classes for what appears to be the same thing" xsd:string {external_ontology="FMA"} [Term] id: UBERON:0000045 name: ganglion namespace: uberon def: "A biological tissue mass, most commonly a mass of nerve cell bodies." [https://github.com/obophenotype/uberon/issues/300, Wikipedia:Ganglion] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "ganglia" RELATED [] synonym: "neural ganglion" RELATED [BTO:0000497] xref: AAO:0010426 xref: AEO:0000135 xref: BAMS:G xref: BTO:0000497 xref: CALOHA:TS-0397 xref: EFO:0000899 xref: EHDAA2:0003135 xref: EHDAA:2897 xref: EHDAA:4662 xref: EHDAA:5621 xref: EHDAA:918 xref: EMAPA:32846 xref: EV:0100372 xref: FMA:5884 xref: MA:0002406 xref: MAT:0000207 xref: MAT:0000343 xref: MESH:D005724 xref: MIAA:0000207 xref: MIAA:0000343 xref: NCIT:C12719 xref: NLXANAT:100302 xref: TAO:0000190 xref: TGMA:0001016 xref: UMLS:C0017067 {source="ncithesaurus:Ganglion"} xref: VHOG:0000156 xref: WBbt:0005189 xref: Wikipedia:Ganglion xref: XAO:0000209 xref: ZFA:0000190 is_a: UBERON:0000061 ! anatomical structure disjoint_from: UBERON:0002420 ! basal ganglion relationship: part_of UBERON:0001016 ! nervous system property_value: external_definition "A ganglion is a cluster of neurons. It is part of a nervous system. It may include glial cells. The neurons are arranged in a specific constellation: neuronal somata are concentrated at the surface, thus forming a cell cortex, and neurites are concentrated in the centre of the ganglion to form the neuropil. A ganglion is a distinct unit but several ganglia may be anterio-posteriorly joined by connectives or transversally by commissures" xsd:string {source="PMID:21062451"} property_value: external_definition "Portion of tissue that contains cell bodies of neurons and is located outside the central nervous system.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010426", ontology="AAO", source="AAO:EJS"} property_value: external_definition "Structures containing a collection of nerve cell bodies. (Source: BioGlossary, www.Biology-Text.com)[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000190", ontology="TAO", source="ZFIN:curator"} property_value: external_definition "Subdivision of nervous system which primarily consists of cell bodies of neurons located outside the neuraxis (brain and spinal cord. Examples: spinal ganglion, trigeminal ganglion, superior cervical ganglion, celiac ganglion, inferior hypogastric (pelvic) ganglion (adapted from Foundational Model of Anatomy)[NLXANAT:100302]." xsd:string {source="NLXANAT:100302"} property_value: gwas:trait "true" xsd:boolean property_value: has_relational_adjective "ganglionic" xsd:string property_value: homology_notes "Cranial sensory placodes are focused areas of the head ectoderm of vertebrates that contribute to the development of the cranial sense organs and their associated ganglia. Placodes have long been considered a key character of vertebrates, and their evolution is proposed to have been essential for the evolution of an active predatory lifestyle by early vertebrates.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000156", ontology="VHOG", source="DOI:10.1016/j.ydbio.2005.02.021 Mazet F, Hutt JA, Milloz J, Millard J, Graham A, Shimeld SM, Molecular evidence from Ciona intestinalis for the evolutionary origin of vertebrate sensory placodes. Developmental Biology (2005)", source="http://bgee.unil.ch/"} property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/cmungall property_value: IAO:0000116 "TODO - check vert vs invert. Other species: Any of a number of aggregations of neurons, glial cells and their processes, surrounded by a glial cell and connective tissue sheath (plural: ganglia). // Subdivision of neural tree (organ) which primarily consists of cell bodies of neurons located outside the neuraxis (brain and spinal cord); together with a nucleus and its associated nerve, it constitutes a neural tree (organ). Examples: spinal ganglion, trigeminal ganglion, superior cervical ganglion, celiac ganglion, inferior hypogastric (pelvic) ganglion. // a cluster of nerve cells and associated glial cells (nuclear location) // Portion of tissue that contains cell bodies of neurons and is located outside the central nervous system." xsd:string [Term] id: UBERON:0000055 name: vessel namespace: uberon def: "A tubular structure that contains, conveys body fluid, such as blood or lymph." [https://orcid.org/0000-0002-6601-2165] subset: grouping_class subset: human_reference_atlas subset: pheno_slim is_a: UBERON:0000061 ! anatomical structure property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0000056 name: ureter namespace: uberon def: "Muscular duct that propels urine from the kidneys to the urinary bladder, or related organs." [GO:0090189, Wikipedia:Ureter] subset: efo_slim subset: human_reference_atlas subset: major_organ subset: organ_slim subset: pheno_slim subset: uberon_slim synonym: "metanephric duct" RELATED [ISBN:0073040584, VHOG:0000605] xref: AAO:0010254 xref: BTO:0001409 xref: CALOHA:TS-1084 xref: EFO:0000930 xref: EHDAA2:0002139 xref: EHDAA:9341 xref: EMAPA:17950 xref: EV:0100097 xref: FMA:9704 xref: GAID:438 xref: galen:Ureter xref: MA:0000378 xref: MAT:0000120 xref: MESH:D014513 xref: MIAA:0000120 xref: NCIT:C12416 xref: SCTID:302511008 xref: UMLS:C0041951 {source="ncithesaurus:Ureter"} xref: VHOG:0000605 xref: Wikipedia:Ureter xref: XAO:0000144 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001008 ! renal system relationship: part_of UBERON:0002100 ! trunk relationship: part_of UBERON:0002113 ! kidney relationship: part_of UBERON:0002355 ! pelvic region of trunk relationship: part_of UBERON:0011143 ! upper urinary tract relationship: part_of UBERON:0036295 ! renal pelvis/ureter property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/3/30/Urinary_system.svg xsd:anyURI property_value: external_definition "Anatomical structure consisting of long narrow duct which carries urine from the kidney to the urinary bladder.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010254", ontology="AAO", source="AAO:BJB"} property_value: external_definition "The duct of amniotes that carries urine from a metanephric kidney to the urinary bladder. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-29, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000605", ontology="VHOG", source="http://bgee.unil.ch/"} property_value: has_relational_adjective "ureteral" xsd:string property_value: has_relational_adjective "ureteric" xsd:string property_value: homology_notes "The first embryonic hint of a metanephros is the formation of the metanephric duct that appears as a ureteric diverticulum arising at the base of preexisting mesonephric duct. The ureteric diverticulum grows dorsally into the posterior region of the nephric ridge. Here it enlarges and stimulates the growth of metanephric tubules that come to make up the metanephric kidney. The metanephros becomes the adult kidney of amniotes, and the metanephric duct is usually called the ureter.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000605", ontology="VHOG", source="ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.543", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 property_value: UBPROP:0000010 "in humans, consists of adventitial, muscular and mucoa layers" xsd:string [Term] id: UBERON:0000057 name: urethra namespace: uberon def: "The fibromuscular tubular canal through which urine is discharged from the bladder to the exterior via the external urinary meatus; in males, the urethra is joined by the ejaculatory ducts and serves as a passageway for semen during ejaculation, as well as a canal for urine during voiding; in females, the urethra is shorter and emerges above the vaginal opening." [MGI:anna, MP:0000537] subset: efo_slim subset: major_organ subset: organ_slim subset: pheno_slim subset: uberon_slim xref: BTO:0001426 xref: CALOHA:TS-1132 xref: EFO:0000931 xref: EMAPA:30901 xref: EV:0100099 xref: FMA:19667 xref: GAID:390 xref: galen:Urethra xref: MA:0000379 xref: MAT:0000121 xref: MESH:D014521 xref: MIAA:0000121 xref: NCIT:C12417 xref: SCTID:302513006 xref: UMLS:C0041967 {source="ncithesaurus:Urethra"} xref: VHOG:0001264 xref: Wikipedia:Urethra xref: XAO:0000153 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000467 ! anatomical system property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/c/cb/Female_anatomy.png xsd:anyURI property_value: has_relational_adjective "urethral" xsd:string property_value: taxon_notes "In human males, the urethra travels through the penis, and carries semen as well as urine. In females, the urethra is shorter and emerges above the vaginal opening." xsd:string [Term] id: UBERON:0000059 name: large intestine namespace: uberon def: "A subdivision of the digestive tract that connects the small intestine to the cloaca or anus. Lacks or has few villi[Kardong]." [ISBN:0073040584, Wikipedia:Large_intestine_(anatomy)] subset: efo_slim subset: human_reference_atlas subset: major_organ subset: organ_slim subset: pheno_slim synonym: "intestinum crassum" RELATED [BTO:0000706] xref: AAO:0010396 xref: BTO:0000706 xref: CALOHA:TS-1306 xref: EFO:0000840 xref: EMAPA:19252 xref: EV:0100077 xref: FMA:7201 xref: GAID:306 xref: galen:LargeIntestine xref: MA:0000333 xref: MESH:D007420 xref: MIAA:0000046 xref: NCIT:C12379 xref: SCTID:181254001 xref: UMLS:C0021851 {source="ncithesaurus:Large_Intestine"} xref: VHOG:0000054 xref: Wikipedia:Large_intestine_(anatomy) xref: XAO:0000131 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000160 ! intestine relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001007 ! digestive system property_value: homology_notes "Intestinal surface area also is increased in amphibians and reptiles by internal folds and occasionally by a few villi. The intestine can be divided into a small intestine and a slightly wider large intestine.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000054", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.566", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0000061 name: anatomical structure namespace: uberon def: "Material anatomical entity that is a single connected structure with inherent 3D shape generated by coordinated expression of the organism's own genome." [CARO:0000003] subset: common_anatomy subset: upper_level synonym: "biological structure" EXACT [] synonym: "connected biological structure" EXACT [CARO:0000003] xref: AAO:0010825 xref: AEO:0000003 xref: BILA:0000003 xref: CARO:0000003 xref: EHDAA2:0003003 xref: EMAPA:0 xref: FBbt:00007001 xref: FMA:305751 xref: FMA:67135 xref: GAID:781 xref: HAO:0000003 xref: http://dbpedia.org/ontology/AnatomicalStructure xref: MA:0003000 xref: MESH:D000825 xref: SCTID:362889002 xref: TAO:0000037 xref: TGMA:0001823 xref: VHOG:0001759 xref: XAO:0003000 xref: ZFA:0000037 is_a: EFO:0000786 ! anatomy basic component is_a: UBERON:0001062 ! anatomical entity property_value: RO:0002175 NCBITaxon:33090 property_value: RO:0002175 NCBITaxon:33208 property_value: RO:0002175 NCBITaxon:4751 [Term] id: UBERON:0000065 name: respiratory tract namespace: uberon def: "Anatomical structure that is part of the respiratory system. In mammals consists of upper and lower tracts." [https://orcid.org/0000-0002-6601-2165] subset: human_reference_atlas xref: EHDAA2:0001606 xref: EHDAA:1568 xref: EHDAA:2219 xref: EMAPA:16737 xref: FMA:265130 xref: SCTID:361110005 xref: VHOG:0000393 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001004 ! respiratory system property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0000069 name: larval stage namespace: uberon def: "A distinct juvenile stage many animals undergo before metamorphosis into adults. Animals with indirect development such as insects, amphibians, or cnidarians typically have a larval phase of their life cycle." [Wikipedia:Larva] subset: efo_slim synonym: "ammocoete" NARROW SENSU [Wikipedia:Larva] synonym: "ammocoete stage" NARROW SENSU [Wikipedia:Larva] synonym: "bipinnaria" NARROW SENSU [Wikipedia:Larva] synonym: "bipinnaria stage" NARROW SENSU [Wikipedia:Larva] synonym: "caterpillar" NARROW SENSU [Wikipedia:Larva] synonym: "caterpillar stage" NARROW SENSU [Wikipedia:Larva] synonym: "glochidium" NARROW SENSU [Wikipedia:Larva] synonym: "glochidium stage" NARROW SENSU [Wikipedia:Larva] synonym: "grub" NARROW SENSU [Wikipedia:Larva] synonym: "grub stage" NARROW SENSU [Wikipedia:Larva] synonym: "larva" RELATED [] synonym: "larva stage" EXACT [] synonym: "leptocephalus" NARROW SENSU [Wikipedia:Larva] synonym: "leptocephalus stage" NARROW SENSU [Wikipedia:Larva] synonym: "maggot" NARROW SENSU [Wikipedia:Larva] synonym: "maggot stage" NARROW SENSU [Wikipedia:Larva] synonym: "metacestode" NARROW SENSU [BTO:0000859] synonym: "naiad, nymph" NARROW SENSU [Wikipedia:Larva] synonym: "naiad, nymph stage" NARROW SENSU [Wikipedia:Larva] synonym: "nauplius" NARROW SENSU [Wikipedia:Larva] synonym: "nauplius stage" NARROW SENSU [Wikipedia:Larva] synonym: "nymph" NARROW SENSU [Wikipedia:Larva] synonym: "nymph stage" NARROW SENSU [Wikipedia:Larva] synonym: "planula" NARROW SENSU [Wikipedia:Larva] synonym: "planula stage" NARROW SENSU [Wikipedia:Larva] synonym: "tornaria" NARROW SENSU [NCBITaxon:10219] synonym: "trochophore" NARROW SENSU [Wikipedia:Larva] synonym: "trochophore stage" NARROW SENSU [Wikipedia:Larva] synonym: "veliger" NARROW SENSU [Wikipedia:Larva] synonym: "veliger stage" NARROW SENSU [Wikipedia:Larva] synonym: "wriggler" NARROW SENSU [Wikipedia:Larva] synonym: "wriggler stage" NARROW SENSU [Wikipedia:Larva] synonym: "zoea" NARROW SENSU [Wikipedia:Larva] synonym: "zoea stage" NARROW SENSU [Wikipedia:Larva] xref: BTO:0000915 xref: BTO:0000954 xref: EFO:0001303 xref: FBdv:00005336 xref: MIAA:0000400 xref: OGES:000008 xref: Wikipedia:Larva xref: ZFS:0000048 is_a: EFO:0000399 ! developmental stage relationship: never_in_taxon NCBITaxon:32524 property_value: IAO:0000232 "Uberon includes clade-specific subclasses, e.g. nematod larva" xsd:string property_value: taxon_notes "It is a misunderstanding that the larval form always reflects the group's evolutionary history. It could be the case, but often the larval stage has evolved secondarily, as in insects. In these cases the larval form might differ more from the group's common origin than the adult form" xsd:string {source="WP"} [Term] id: UBERON:0000070 name: pupal stage namespace: uberon def: "A life cycle stage of holometabolous insects in which the organism is a pupa and starts with the larval-pupal apolysis and ends with pupal-adult apolysis." [https://github.com/obophenotype/uberon/issues/562, Wikipedia:Pupa] synonym: "aurelia stage" NARROW [NCBITaxon:37572, Wikipedia:Pupa] synonym: "chrysalides stage" NARROW [NCBITaxon:37572, Wikipedia:Pupa] synonym: "chrysalis stage" NARROW [NCBITaxon:37572, Wikipedia:Pupa] synonym: "pupa stage" EXACT [] xref: FBdv:00005349 xref: Wikipedia:Pupa is_a: EFO:0000399 ! developmental stage property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/ANiknejad property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/cmungall property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/dosumis property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/fbastian property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/mmc46 property_value: seeAlso https://github.com/obophenotype/uberon/issues/562 xsd:anyURI property_value: taxon_notes "The pupal stage is found only in holometabolous insects, those that undergo a complete metamorphosis, going through four life stages; embryo, larva, pupa and imago" xsd:string [Term] id: UBERON:0000074 name: renal glomerulus namespace: uberon def: "A capillary tuft which forms a close network with the visceral epithelium (podocytes) and the mesangium to form the filtration barrier and is surrounded by Bowman's capsule in nephrons of the vertebrate kidney[GO]." [MP:0005325, Wikipedia:Glomerulus] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: vertebrate_core synonym: "glomerular capillary tuft" RELATED [ZFA:0001288] synonym: "glomerular tuft" RELATED INCONSISTENT [] synonym: "glomerulus" BROAD [] synonym: "glomerulus renis" RELATED LATIN [Wikipedia:Glomerulus] synonym: "Malphigian glomerulus" RELATED MISSPELLING [BTO:0000530] synonym: "Malpighian glomerulus" RELATED [http://medical-dictionary.thefreedictionary.com/malpighian+glomerulus] synonym: "Malpighian tuft" RELATED [http://medical-dictionary.thefreedictionary.com/malpighian+glomerulus] synonym: "renal corpuscle" RELATED INCONSISTENT [] synonym: "renal glomeruli" EXACT [TAO:0001288] xref: BTO:0000530 xref: CALOHA:TS-0862 xref: EFO:0003667 xref: EMAPA:28329 xref: EV:0100386 xref: FMA:15624 xref: MA:0001657 xref: MESH:D007678 xref: NCIT:C13250 xref: SCTID:362217000 xref: TAO:0001288 xref: UMLS:C0022663 {source="ncithesaurus:Glomerulus"} xref: Wikipedia:Glomerulus xref: ZFA:0001288 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0001230 ! glomerular capsule property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/3/30/Gray1130.svg xsd:anyURI property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/2/22/Renal_corpuscle.svg xsd:anyURI property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9114-8737 property_value: RO:0002175 NCBITaxon:9606 property_value: UBPROP:0000012 "ZFA - The multi-tissue structure where the glomerular basement membrane supported by mesonephric podocytes filters blood from the glomerular capillaries. GUDMAP: 'Together, the Bowman's capsule and the glomerulus comprise the definitive renal corpuscle.' - here the glomerulus is part of the capsule?" xsd:string {external_ontology="ZFA"} creation_date: 2009-06-18T09:26:37Z [Term] id: UBERON:0000079 name: male reproductive system namespace: uberon def: "The organs associated with producing offspring in the gender that produces spermatozoa." [MP:0001145] subset: efo_slim subset: pheno_slim synonym: "genitalia of male organism" EXACT [OBOL:automatic] synonym: "male genital organ" RELATED [BTO:0000082] synonym: "male genital system" EXACT [FMA:45664] synonym: "male genital tract" RELATED [] synonym: "male genitalia" EXACT [] synonym: "male genitals" EXACT [] synonym: "male organism genitalia" EXACT [OBOL:automatic] synonym: "male organism reproductive system" EXACT [OBOL:automatic] synonym: "male reproductive tract" RELATED [MA:0000396] synonym: "reproductive system of male organism" EXACT [OBOL:automatic] synonym: "systema genitale masculinum" RELATED [BTO:0000082] xref: BTO:0000082 xref: CALOHA:TS-1310 xref: EFO:0000970 xref: EHDAA2:0001054 xref: EHDAA:8136 xref: EMAPA:17968 xref: EV:0100101 xref: FBbt:00004927 xref: FMA:45664 xref: GAID:386 xref: HAO:0000505 xref: MA:0000396 xref: MESH:D005837 xref: NCIT:C12722 xref: SCTID:361340001 xref: TGMA:0000634 xref: UMLS:C0017422 {source="ncithesaurus:Male_Genitalia"} xref: UMLS:C1963704 {source="ncithesaurus:Male_Reproductive_System"} xref: VHOG:0000725 xref: Wikipedia:Male_reproductive_system_(human) xref: XAO:0000155 is_a: UBERON:0000990 ! reproductive system disjoint_from: UBERON:0000474 ! female reproductive system property_value: homology_notes "By far, sexual reproduction is the more common pattern among living vertebrate forms and its widespread occurrence suggests that it is the plesiomorphic, or primitive, reproductive mode among the vertebrates.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000725", ontology="VHOG", source="ISBN:978-0792383369 Lombardi J, Comparative vertebrate reproduction (1998) p.43", source="http://bgee.unil.ch/"} [Term] id: UBERON:0000080 name: mesonephros namespace: uberon def: "The second stage of the kidney. It serves as the main excretory organ of aquatic vertebrates and as a temporary embryonic kidney in higher vertebrates. It is composed of the mesonephric duct (also called the Wolffian duct), mesonephric tubules, and associated capillary tufts. A single tubule and its associated capillary tuft is called a mesonephric excretory unit; these units are similar in structure and function to nephrons of the adult kidney. The mesonephros is derived from intermediate mesoderm in the vertebrate embryo." [GO:0001823, Wikipedia:Mesonephros] subset: efo_slim subset: organ_slim subset: pheno_slim subset: vertebrate_core synonym: "amphibian adult kidney" RELATED [XAO:0000141] synonym: "corpus Wolffi" RELATED [BTO:0001542] synonym: "mesonephric kidney" EXACT [XAO:0000141] synonym: "mesonephroi" EXACT PLURAL [http://www.gudmap.org/About/Tutorial/DevMUS.html#DMK_Nephron] synonym: "middle kidney" RELATED [BTO:0001542] synonym: "opisthonephros" RELATED [VHOG:0000038, XAO:0000141] synonym: "opisto nephros" RELATED [] synonym: "opistonephros" RELATED [http://www.usm.maine.edu/bio/courses/bio205/bio205_26_sex.html] synonym: "Wolffian body" EXACT [BTO:0001542, GOC:yaf, MESH:A16.254.500, Wikipedia:Mesonephros] xref: AAO:0010384 xref: BTO:0001542 xref: CALOHA:TS-0624 xref: EFO:0000928 xref: EHDAA2:0001130 xref: EHDAA:1581 xref: EHDAA:5903 xref: EMAPA:16744 xref: FMA:72171 xref: GAID:1308 xref: MESH:D001755 xref: NCIT:C26467 xref: SCTID:308799002 xref: TAO:0000529 xref: UMLS:C0025492 {source="ncithesaurus:Mesonephros"} xref: VHOG:0000038 xref: Wikipedia:Mesonephros xref: XAO:0000141 xref: ZFA:0000529 is_a: UBERON:0002113 ! kidney property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/a/ad/Gray986.png xsd:anyURI property_value: external_definition "A kidney formed of nephric tubules arising in the middle region of the nephric ridge; a transient embryonic stage that replaces the pronephros, but is itself replaced by the adult metanephros [in mammals; in fishes and amphibians it is the adult kidney]. [Evolution, Fourth_Edition_(2006)_McGraw-Hill, Function, Kardong_KV, Vertebrates:_Comparative_Anatomy, p.745][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000038", ontology="VHOG", source="http://bgee.unil.ch/"} property_value: external_definition "Organ that is the definitive adult kidney. It replaces the earlier pronephros, which degenerates as the mesonephros becomes functional in feeding stage tadpoles.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010384", ontology="AAO", source="AAO:BJB"} property_value: has_relational_adjective "mesonephric" xsd:string property_value: homology_notes "As the pronephros regresses, the archinephric duct induces the sequential differentiation of tubules in the more caudal parts of the nephric ridge. (...) Tubules that differentiate in the middle part of the nephric ridge form a kidney called the mesonephros. This kidney functions in the embryos and larvae of all vertebrates. (...) In all vertebrate embryos, the kidney begins with the differentiation of a few renal tubules from the anterior end of the nephric ridge overlying the pericardial cavity. (...) This early-developing embryonic kidney is called the pronephros.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000038", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.639", source="http://bgee.unil.ch/"} property_value: taxon_notes "In mammals, the mesonephros is the second of the three embryonic kidneys to be established and exists only transiently. In fish and amphibians, the mesonephros will form the mature kidney" xsd:string property_value: UBPROP:0000009 "By contrast to the pronephros, the histological features of the mammalian mesonephros, with its primitive glomeruli, suggest that it probably functions as a primitive kidney, and is involved in the production of much of the amniotic fluid. Within the two mesonephroi, one located on either side of the dorsal mesentery of the hindgut, a substantial number (in the region of about 40 or more) of cranio-caudally segmented mesonephric tubules are formed. It has, however, been suggested that only the most rostrally located 4-6 pairs of mesonephric tubules drain into the mesonephric portion of the nephric duct. This is now seen to extend along the length of the mesonephroi, being located towards their lateral sides. The mesonephros is also retained over a considerably longer period than the pronephros, but gradually undergoes regression in a cranio-caudal direction. While the rostral part displays clear evidence of regression its more caudal part appears to display evidence of functional activity. Within the medial part of the mesonephros, vesicles are formed, although no glomeruli are formed there in this species. It is, however, difficult to believe that the relatively enormous mesonephroi do not have an excretory role in the mouse, only serving as a base for gonadal differentiation. In the human embryo, the medial part of the mesonephric tubules enlarges, become invaginated by capillaries, and form glomeruli. These then take on an excretory role. In the mouse, the mesonephric ducts appear to be patent throughout their length[GUDMAP, modified]" xsd:string [Term] id: UBERON:0000087 name: inner cell mass namespace: uberon def: "A mass of cells that develop into the body of the embryo and some extraembryonic tissues." [ISBN:0-683-40008-8, MGI:pvb] subset: early_development subset: efo_slim subset: pheno_slim synonym: "early embryoblast" RELATED [FMA:86557] synonym: "embryoblast" RELATED [] synonym: "embryoblastus; massa cellularis interna; pluriblastus senior" RELATED LATIN [Wikipedia:Inner_cell_mass] synonym: "ICM" RELATED [VHOG:0000742] synonym: "pluriblast" RELATED [] xref: EFO:0000547 xref: EHDAA2:0000830 xref: EHDAA:40 xref: EMAPA:16041 xref: FMA:86557 xref: NCIT:C13740 xref: SCTID:361456007 xref: UMLS:C1283994 {source="ncithesaurus:Inner_Cell_Mass"} xref: VHOG:0000742 xref: Wikipedia:Inner_cell_mass is_a: CL:0002321 ! embryonic cell (metazoa) is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/7/72/Blastocyst_English.svg xsd:anyURI property_value: external_definition "A group of cells found in the mammalian blastocyst that give rise to the embryo. [Biology_Online][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000742", ontology="VHOG", source="http://bgee.unil.ch/"} property_value: homology_notes "A small sphere of cells known as the inner cell mass lies within the trophoblast (of all eutherian mammals).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000742", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.144", source="http://bgee.unil.ch/"} property_value: UBPROP:0000011 "This structure forms in the earliest steps of development, before implantation into the endometrium of the uterus has occurred.The ICM lies within the blastocyst cavity and is entirely surrounded by the single layer of cells called trophoblast. [Wikipedia:Inner_cell_mass]" xsd:string [Term] id: UBERON:0000089 name: hypoblast (generic) namespace: uberon def: "." [GO:dph, https://sourceforge.net/p/geneontology/ontology-requests/9676/, Wikipedia:Hypoblast, ZFIN:cvs] subset: early_development subset: efo_slim subset: grouping_class subset: uberon_slim subset: vertebrate_core synonym: "endomesoderm" RELATED [ISBN:0073040584, VHOG:0001222] synonym: "future endoderm and mesoderm" RELATED [ISBN:0073040584] synonym: "hypoblast" EXACT [VHOG:0001222] synonym: "hypoblastus" RELATED LATIN [Wikipedia:Hypoblast] synonym: "mesendoderm" RELATED [ZFIN:ZDB-PUB-961014-576] xref: AAO:0000229 xref: AAO:0010619 xref: BTO:0003953 xref: EFO:0001930 xref: EMAPA:32762 xref: FMA:293873 xref: MAT:0000418 xref: MIAA:0000418 xref: NCIT:C34190 xref: TAO:0000117 xref: UMLS:C1512561 {source="ncithesaurus:Hypoblast"} xref: VHOG:0001222 xref: Wikipedia:Hypoblast xref: XAO:0003044 xref: ZFA:0000117 is_a: UBERON:0002050 ! embryonic structure property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/e/e3/Gray21.png xsd:anyURI property_value: external_definition "A primary germ layer that can give rise to both mesoderm and endoderm.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010619", ontology="AAO", source="AAO:EJS"} property_value: external_definition "The inner of the two layers of the blastoderm that forms during gastrulation and give rise to the definitive mesoderm and endoderm. Kimmel et al, 1995.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000117", ontology="TAO", source="ZFIN:curator"} property_value: homology_notes "In mammal and avian, extraembryonic endoderm such as visceral endoderm and hypoblast play essential roles in the embryonic axis formation and germ layer development. These extraembryonic tissues are generally considered to have been created in ancestral amniotes evolved from the Xenopus-type ancestor (reference 1); The endomesoderm secretes as yet unidentified signals that posteriorize the ectoderm, which would otherwise adopt an anterior fate. Our results point to a conserved function at the base of deuterostomes for beta-catenin in germ layer specification and to a causal link in the definition of the posterior part of the embryonic ectoderm by way of activating posteriorizing endomesodermal factors (reference 2).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001222", ontology="VHOG", source="DOI:10.1016/j.ydbio.2009.05.543 Takeuchi M, Takahashi M, Okabe M, Aizawa S, Germ layer patterning in bichir and lamprey; an insight into its evolution in vertebrates. Developmental Biology (2009) (reference 1), Darras S, Gerhart J, Terasaki M, Kirschner M, Lowe CJ, Beta-catenin specifies the endomesoderm and defines the posterior organizer of the hemichordate Saccoglossus kowalevskii. Development (2011) (reference 2)", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "TODO - consider relationship to UBERON:0000091 ! bilaminar disc" xsd:string property_value: IAO:0000232 "this term groups together disparate structures with different relationships." xsd:string property_value: seeAlso https://github.com/obophenotype/uberon/issues/437 xsd:anyURI [Term] id: UBERON:0000107 name: cleavage stage namespace: uberon def: "The first few specialized divisions of an activated animal egg; Stage consisting of division of cells in the early embryo. The zygotes of many species undergo rapid cell cycles with no significant growth, producing a cluster of cells the same size as the original zygote. The different cells derived from cleavage are called blastomeres and form a compact mass called the morula. Cleavage ends with the formation of the blastula." [GO:0040016, Wikipedia:Cleavage_(embryo)] subset: efo_slim xref: BilaDO:0000006 xref: BILS:0000107 xref: EFO:0001290 xref: FBdv:00000054 xref: MESH:D002970 xref: MmusDv:0000004 xref: OGES:000015 xref: OGES:000020 xref: PdumDv:0000200 xref: Wikipedia:Cleavage_(embryo) xref: XAO:1000004 xref: ZFS:0000046 is_a: EFO:0000399 ! developmental stage [Term] id: UBERON:0000108 name: blastula stage namespace: uberon def: "An early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence." [Wikipedia:Blastula] subset: efo_slim xref: BilaDO:0000007 xref: BILS:0000108 xref: EFO:0001282 xref: HsapDv:0000006 xref: MmusDv:0000007 xref: OGES:000003 xref: OGES:000016 xref: OGES:000021 xref: WBls:0000005 xref: Wikipedia:Blastula xref: XAO:1000003 xref: ZFS:0000045 is_a: EFO:0000399 ! developmental stage property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/c/c6/Blastulation.png xsd:anyURI property_value: IAO:0000116 "consider adding a preceding stage 'morula stage' as part of cleavage" xsd:string [Term] id: UBERON:0000109 name: gastrula stage namespace: uberon def: "A stage defined by complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm." [GO:0007369] subset: efo_slim synonym: "blastocystis trilaminaris stage" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "trilaminar blastocyst stage" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "trilaminar blastoderm stage" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "trilaminar disk stage" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "trilaminar germ stage" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "trilaminar stage" RELATED [https://orcid.org/0000-0002-6601-2165] xref: BilaDO:0000008 xref: BILS:0000109 xref: EFO:0001296 xref: FBdv:00005317 xref: HsapDv:0000010 xref: MmusDv:0000013 xref: OGES:000004 xref: OGES:000019 xref: WBls:0000010 xref: XAO:1000005 xref: ZFS:0000047 is_a: EFO:0000399 ! developmental stage [Term] id: UBERON:0000112 name: sexually immature stage namespace: uberon subset: efo_slim synonym: "immature stage" EXACT [VHOG:FB] synonym: "juvenile stage" NARROW [XAO:1000010] synonym: "subadult stage" RELATED [http://eol.org/schema/terms/subadult] xref: BILS:0000112 xref: BTO:0002168 xref: EFO:0001300 xref: EV:0300051 xref: MmusDv:0000043 xref: OGES:000009 xref: XAO:1000010 xref: XtroDO:0000083 xref: ZFS:0000051 is_a: EFO:0000399 ! developmental stage property_value: external_definition "The stage of being a sexually immature adult animal[XAO:1000010]." xsd:string {source="XAO:1000010"} property_value: seeAlso https://github.com/obophenotype/uberon/issues/427 xsd:anyURI property_value: taxon_notes "In mammals this would include infant (nourishment from lactation) and juvenile (prepubertal no longer dependent on mother)" xsd:string [Term] id: UBERON:0000115 name: lung epithelium namespace: uberon def: "The epithelial layer of the lung." [MP:0006382] subset: pheno_slim synonym: "epithelial tissue of lung" EXACT [OBOL:automatic] synonym: "epithelium of lung" EXACT [OBOL:automatic] synonym: "lung epithelial tissue" EXACT [OBOL:automatic] synonym: "pulmonary epithelium" RELATED [BTO:0001653] xref: BTO:0001653 xref: EMAPA:32860 xref: MA:0001783 is_a: EFO:0001986 ! lung structure is_a: UBERON:0000483 ! epithelium intersection_of: UBERON:0000483 ! epithelium intersection_of: part_of UBERON:0002048 ! lung relationship: part_of UBERON:0000065 ! respiratory tract relationship: part_of UBERON:0001004 ! respiratory system relationship: part_of UBERON:0002048 ! lung property_value: taxon_notes "A pseudostratified epithelium, containing basal cells, stem cells of the airway, submucosal glands and cartilage rings, is limited to the trachea and large lobar airways in the mouse (Morrisey and Hogan, 2010). This more complex epithelium extends to terminal bronchioles in the human[DOI:10.1242/dev.115469]" xsd:string [Term] id: UBERON:0000152 name: pelvic fin namespace: uberon def: "Paired fin located in the abdominal position of the body." [TAO:curator, VSAO:0000129] subset: efo_slim synonym: "pelvic fins" RELATED PLURAL [ZFA:0001184] xref: BTO:0004651 xref: EFO:0003644 xref: TAO:0001184 xref: VSAO:0000129 xref: Wikipedia:Pectoral_fin#Fins xref: ZFA:0001184 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0008897 ! fin property_value: external_definition "Paired fin located in the abdominal position of the body.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0001184", ontology="TAO", source="TAO:wd"} property_value: external_definition "Paired fin located in the abdominal position of the body.[VSAO]" xsd:string {date_retrieved="2012-08-14", external_class="VSAO:0000129", ontology="VSAO", source="TAO:curator"} [Term] id: UBERON:0000155 name: theca cell layer namespace: uberon def: "A layer of the ovarian follicle that consists of theca cells." [http://orcid.org/0000-0002-6601-2165] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: vertebrate_core synonym: "layer of theca cells" EXACT [] synonym: "ovarian theca" RELATED [EMAPA:35636] synonym: "ovary theca" EXACT [MA:0001712] synonym: "theca cell layer of ovarian follicle" EXACT [] synonym: "theca folliculi" RELATED LATIN [Wikipedia:Theca_of_follicle] synonym: "theca of follicle" EXACT [] synonym: "thecal cell layer" EXACT [ZFA:0001113] synonym: "thecal cell layers" RELATED PLURAL [ZFA:0001113] xref: BTO:0002853 xref: EFO:0003629 xref: EMAPA:35636 xref: FMA:18656 xref: MA:0001712 xref: SCTID:361385000 xref: TAO:0001113 xref: Wikipedia:Theca_of_follicle xref: ZFA:0001113 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000990 ! reproductive system property_value: RO:0002175 NCBITaxon:9606 property_value: UBPROP:0000009 "The theca folliculi are responsible for the production of testosterone from androstenedione in females, and indirectly the production of estrogens by supplying the neighboring granulosa cells with androstenedione that can then be used as a substrate for aromatase. [Wikipedia:Theca_of_follicle]" xsd:string [Term] id: UBERON:0000160 name: intestine namespace: uberon def: "Segment of the alimentary canal extending from the stomach to the anus and, in humans and other mammals, consists of two segments, the small intestine and the large intestine." [GOC:GO, Wikipedia:Intestine] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "bowel" EXACT [] synonym: "intestinal tract" RELATED [] xref: AAO:0000246 xref: ANISEED:1235303 xref: BSA:0000093 xref: BTO:0000648 xref: CALOHA:TS-0490 xref: EFO:0000834 xref: EMAPA:32874 xref: EV:0100071 xref: FMA:7199 xref: GAID:295 xref: galen:Intestine xref: MA:0000328 xref: MA:0001524 xref: MESH:D007422 xref: MIAA:0000043 xref: NCIT:C12736 xref: SCTID:256876008 xref: TAO:0001338 xref: UMLS:C0021853 {source="ncithesaurus:Intestine"} xref: VHOG:0000056 xref: WBbt:0005772 xref: Wikipedia:Intestine xref: XAO:0000129 xref: ZFA:0001338 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0005409 ! alimentary part of gastrointestinal system property_value: external_definition "Portion of the alimentary canal bounded anteriorly by the pyloric sphincter and posteriorly by the cloacal sphincter.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000246", ontology="AAO", source="AAO:EJS"} property_value: external_definition "The tract of the alimentary canal. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000056", ontology="VHOG", source="http://bgee.unil.ch/"} property_value: has_relational_adjective "intestinal" xsd:string property_value: IAO:0000116 "This class is probably too inclusive" xsd:string property_value: taxon_notes "In zebrafish, No stomach, small intestine, or large intestine can be distinguished. However, differences can be found in the morphology of the mucosa columnar epithelial cells and the number of goblet cells, suggesting functional differentiation. The intestine has numerous folds that become progressively shorter in a rostral-to-caudal direction. Proportionally, these folds are significantly larger than the finger-like intestinal villi of mammals and other amniotes (Wallace et al. 2005). Columnar-shaped absorptive enterocytes are the most numerous in the zebrafish intestinal epithelium. Goblet cells are the second most populous epithelial cell type." xsd:string [Term] id: UBERON:0000165 name: mouth namespace: uberon def: "The proximal portion of the digestive tract, containing the oral cavity and bounded by the oral opening. In vertebrates, this extends to the pharynx and includes gums, lips, tongue and parts of the palate. Typically also includes the teeth, except where these occur elsewhere (e.g. pharyngeal jaws) or protrude from the mouth (tusks)." [https://github.com/obophenotype/uberon/wiki/The-digestive-tract, Wikipedia:Mouth] subset: efo_slim subset: major_organ subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "adult mouth" NARROW [] synonym: "cavital oralis" RELATED LATIN [Wikipedia:Mouth] synonym: "cavitas oris" RELATED [BTO:0001090] synonym: "cavum oris" RELATED [BTO:0001090] synonym: "mouth cavity" RELATED [BTO:0001090] synonym: "oral region" RELATED [EHDAA2:0001326] synonym: "oral vestibule" RELATED [BTO:0001090] synonym: "regio oralis" EXACT LATIN [BTO:0004698, FMA:49184, FMA:TA] synonym: "rima oris" RELATED [BTO:0001090] synonym: "stoma" RELATED [] synonym: "stomatodaeum" RELATED [VHOG:0000812] synonym: "trophic apparatus" RELATED [http://orcid.org/0000-0002-6601-2165] synonym: "vestibule of mouth" RELATED [BTO:0001090] synonym: "vestibulum oris" RELATED [BTO:0001090] xref: AAO:0010355 xref: BTO:0001090 xref: BTO:0004698 xref: CALOHA:TS-1315 xref: EFO:0000825 xref: EHDAA2:0001326 xref: EHDAA:542 xref: EMAPA:16262 xref: FBbt:00003126 xref: FMA:49184 xref: GAID:75 xref: galen:Mouth xref: http://purl.obolibrary.org/obo/uberon/images/lamprey_sucker_rosava_3238889218.jpg xref: MA:0000341 xref: MA:0002474 xref: MAT:0000038 xref: MESH:D009055 xref: MIAA:0000038 xref: SCTID:21082005 xref: TADS:0000040 xref: TAO:0000547 xref: TAO:0000590 xref: TGMA:0000131 xref: VHOG:0000280 xref: VHOG:0000812 xref: Wikipedia:Mouth xref: XAO:0003029 xref: ZFA:0000547 xref: ZFA:0000590 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000033 ! head property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/0/06/Mouth_illustration-Otis_Archives.jpg xsd:anyURI property_value: external_definition "Cavity in which food is initially ingested and generally contains teeth, tongue and glands.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010355", ontology="AAO", source="AAO:BJB"} property_value: has_relational_adjective "oral" xsd:string property_value: homology_notes "Molecular and developmental cell lineage data suggest that the acoel mouth opening is homologous to the mouth of protostomes and deuterostomes and that the last common ancestor of the Bilateria (the 'urbilaterian') had only this single digestive opening.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000812", ontology="VHOG", source="DOI:10.1038/nature07309 Hejnol A, Martindale MQ, Acoel development indicates the independent evolution of the bilaterian mouth and anus. Nature (2008)", source="http://bgee.unil.ch/"} property_value: seeAlso https://github.com/obophenotype/uberon/issues/661 xsd:anyURI property_value: UBPROP:0000011 "some AOs place this as developing from the stomodeum but we weaken this to developmental contribution, as the mouth includes non-ectodermal derivatives" xsd:string property_value: UBPROP:0000012 "in FMA, the tongue, palate etc are part of the mouth which is itself a subdivision of the face. ZFA includes a separate class 'oral region' which is part of the mouth, but excludes tongue and lips" xsd:string {external_ontology="FMA"} [Term] id: UBERON:0000174 name: excreta namespace: uberon alt_id: UBERON:0000324 alt_id: UBERON:0007550 def: "A portion of organism substance that is the product of an excretion process that will be eliminated from the body. An excretion process is elimination by an organism of the waste products that arise as a result of metabolic activity." [GO:0007588, http://orcid.org/0000-0002-6601-2165] synonym: "excreted substance" EXACT [] synonym: "excretion" RELATED [BTO:0000491] synonym: "portion of excreted substance" EXACT [FMA:9674] synonym: "waste substance" EXACT [AEO:0000184] xref: AEO:0000184 xref: BTO:0000491 xref: EHDAA2_RETIRED:0003184 xref: ENVO:02000022 xref: FMA:9674 xref: galen:Excretion is_a: UBERON:0001062 ! anatomical entity relationship: part_of UBERON:0000468 ! multicellular organism [Term] id: UBERON:0000178 name: blood namespace: uberon def: "A fluid that is composed of blood plasma and erythrocytes." [FMA:9670, http://orcid.org/0000-0002-6601-2165, https://github.com/obophenotype/uberon/issues/9, Wikipedia:Blood] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "portion of blood" EXACT [] synonym: "vertebrate blood" EXACT [] synonym: "whole blood" RELATED [BTO:0000089] xref: AAO:0000046 xref: BTO:0000089 xref: CALOHA:TS-0079 xref: EFO:0000296 xref: EHDAA2:0000176 xref: EHDAA:418 xref: EMAPA:16332 xref: ENVO:02000027 xref: EV:0100047 xref: FMA:9670 xref: GAID:965 xref: galen:Blood xref: MA:0000059 xref: MESH:D001769 xref: MIAA:0000315 xref: NCIT:C12434 xref: TAO:0000007 xref: UMLS:C0005767 {source="ncithesaurus:Blood"} xref: VHOG:0000224 xref: Wikipedia:Blood xref: XAO:0000124 xref: ZFA:0000007 is_a: UBERON:0006314 ! bodily fluid relationship: part_of UBERON:0002390 ! hematopoietic system property_value: axiom_lost_from_external_ontology "relationship loss: subclass specialized connective tissue (AAO:0000571)[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000046", ontology="AAO"} property_value: external_definition "A complex mixture of cells suspended in a liquid matrix that delivers nutrients to cells and removes wastes. (Source: BioGlossary, www.Biology-Text.com)[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000007", ontology="TAO", source="ZFIN:curator"} property_value: external_definition "Highly specialized circulating tissue consisting of several types of cells suspended in a fluid medium known as plasma.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000046", ontology="AAO", source="AAO:LAP"} property_value: homology_notes "Recent findings strongly suggest that the molecular pathways involved in the development and function of blood cells are highly conserved among vertebrates and various invertebrates phyla. (...) There is now good reason to believe that, in vertebrates and invertebrates alike, blood cell lineages diverge from a common type of progenitor cell, the hemocytoblast.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000224", ontology="VHOG", source="DOI:10.1146/annurev.cellbio.22.010605.093317 Hartenstein V, Blood cells and blood cell development in the animal kingdom. Annual review of cell and developmental biology (2006) ", source="http://bgee.unil.ch/"} property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/cmungall property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/tmeehan property_value: IAO:0000232 "This class excludes blood analogues, such as the insect analog of blood. See UBERON:0000179 haemolymphatic fluid." xsd:string property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0000203 name: pallium namespace: uberon alt_id: UBERON:0007333 def: "Dorsal part (roof region) of the telencephalon[GO]." [GO:0021543, https://github.com/obophenotype/uberon/issues/287, ISBN:0471888893, Wikipedia:Pallium_(neuroanatomy)] subset: developmental_classification subset: efo_slim synonym: "area dorsalis telencephali" EXACT [ZFA:0000505] synonym: "dorsal part of telencephalon" EXACT [ISBN:0471888893] synonym: "dorsal telencephalic area" EXACT [ZFA:0000505] synonym: "dorsal telencephalon" EXACT [ZFA:0000505] xref: BTO:0003399 xref: DMBA:15903 xref: EFO:0003534 xref: neuronames:3240 xref: SCTID:369224000 xref: TAO:0000505 xref: TAO:0007007 xref: Wikipedia:Avian_pallium xref: Wikipedia:Pallium_(neuroanatomy) xref: ZFA:0000505 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0001893 ! telencephalon property_value: homology_notes "In the anatomy of animals, an avian pallium is the dorsal telencephalon of a bird's brain. Pallium of avian species tend to be relatively large, comprising ~75% of the telencephalic volume." xsd:string {source="Wikipedia:Avian_pallium", taxon="NCBITaxon:8782"} property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-6601-2165 property_value: RO:0002175 NCBITaxon:7762 {source="PMID:8932866"} property_value: seeAlso https://sourceforge.net/p/obo/zebrafish-anatomy-zfa-term-requests/87 xsd:anyURI property_value: taxon_notes "In humans the cerebrum has three parts: the archipallium, the paleopallium and the neopallium. The developing telencephalon or forebrain is divided into pallium and subpallium. In amphibians, the cerebrum includes archipallium, paleopallium and some of the basal nuclei. Reptiles first developed a neopallium, which continued to develop in the brains of more recent species to become the neocortex of humans and Old World monkeys. In fish, the archipallium is the largest part of the cerebrum. Some researchers suggest the early archipallium gave rise to the human hippocampus" xsd:string {source="WP"} creation_date: 2009-04-18T12:03:09Z [Term] id: UBERON:0000204 name: ventral part of telencephalon namespace: uberon def: "Ventral part (base region) of the telencephalon." [GO:0021544, GO_REF:0000021, ISBN:0471888893, PMID:12626695] subset: developmental_classification subset: efo_slim synonym: "area ventralis telencephali" EXACT [ZFA:0000304] synonym: "subpallium" EXACT [GO:0021544, ZFA:0000304] synonym: "subpallium" NARROW [BTO:0003401, NCBITaxon:8782] synonym: "ventral telencephalon" EXACT [ZFA:0000304] xref: BTO:0003401 xref: DMBA:15751 xref: EFO:0003522 xref: TAO:0000304 xref: ZFA:0000304 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0001893 ! telencephalon property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-6601-2165 property_value: UBPROP:0000012 "BTO term refers specifically to the avian structure" xsd:string {external_ontology="BTO"} creation_date: 2009-04-18T12:12:27Z [Term] id: UBERON:0000211 name: ligament namespace: uberon def: "Dense regular connective tissue connecting two or more adjacent skeletal elements or supporting an organ." [GO_REF:0000034, http://dx.plos.org/10.1371/journal.pone.0051070, VSAO:0000073] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "ligament organ" EXACT [FMA:21496] xref: CALOHA:TS-2145 xref: EFO:0001966 xref: EMAPA:35493 xref: FMA:21496 xref: FMA:30319 xref: galen:Ligament xref: MA:0000113 xref: MESH:D008022 xref: NCIT:C13046 xref: SCTID:182358004 xref: TAO:0001682 xref: UMLS:C0023685 {source="ncithesaurus:Ligament"} xref: VHOG:0001272 xref: Wikipedia:Ligament xref: XAO:0004031 xref: ZFA:0001675 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000467 ! anatomical system property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/9/9a/Knee_diagram.svg xsd:anyURI property_value: external_definition "Nonparenchymatous organ that primarily consists of dense connective tissue aggregated into fasciculi by connective tissue. Examples: sutural ligament, radiate sternocostal ligament, ligament of liver, ovarian ligament[FMA][FMA:21496]." xsd:string {source="FMA:21496"} property_value: external_definition "Portion of connective tissue that connects bone or cartilage.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0001682", ontology="TAO", source="TAO:wd"} property_value: homology_notes "Compared with their Ediacarian predecessor, Cambrian animals in general were characterized by their much stouter bodies. The stoutness of the body is likely due to the formation of ligaments and tendons, which in turn requires the crosslinking of collagen triple helices.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001272", ontology="VHOG", source="PMID:8710894 Ohno S, The notion of the Cambrian pananimalia genome. PNAS (1996)", source="http://bgee.unil.ch/"} property_value: UBPROP:0000012 "this groups both skeletal and non-skeletal ligaments. What is called a 'ligament' in many AOs is actually a skeletal ligament" xsd:string [Term] id: UBERON:0000305 name: amnion namespace: uberon def: "The thin innermost layer of the extraembryonic membranes that contains the amniotic fluid; the membrane forms a closed sac in which the embryo and later, the fetus, is suspended and protected." [MGI:csmith, MP:0005029] subset: human_reference_atlas subset: pheno_slim synonym: "amnios" EXACT [http://placentation.ucsd.edu/glossfs.html] xref: BTO:0000065 xref: CALOHA:TS-0033 xref: EHDAA2:0000116 xref: EHDAA:136 xref: EMAPA:16109 xref: EV:0100122 xref: FMA:80223 xref: GAID:1298 xref: MESH:D000650 xref: NCIT:C12365 xref: SCTID:181457005 xref: UMLS:C0002630 {source="ncithesaurus:Amnion"} xref: VHOG:0000721 xref: Wikipedia:Amnion is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0001987 ! placenta property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/e/e7/Gray14.png xsd:anyURI property_value: external_definition "A thin but tough extraembryonic membrane of reptiles, birds and mammals that lines the chorion and contains the fEtus and the amniotic fluid around it. [Biology_Online][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000721", ontology="VHOG", source="http://bgee.unil.ch/"} property_value: has_relational_adjective "amniotic" xsd:string property_value: homology_notes "Structures homologous to the four extraembryonic membranes of reptiles and birds appear in mammals: amnion, chorion, yolk sac, and allantois.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000721", ontology="VHOG", source="ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.187", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0000310 name: breast namespace: uberon def: "The upper ventral region of the torso of an organism." [Wikipedia:Breast] subset: pheno_slim synonym: "mamma" RELATED LATIN [Wikipedia:Breast] synonym: "mammary part of chest" EXACT [FMA:9601] synonym: "mammary region" EXACT [FMA:9601] xref: BTO:0000149 xref: CALOHA:TS-2083 xref: EV:0100124 xref: FMA:9601 xref: GAID:33 xref: galen:Breast xref: MESH:D001940 xref: NCIT:C12971 xref: SCTID:181131000 xref: UMLS:C0006141 {source="ncithesaurus:Breast"} xref: Wikipedia:Breast is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0001443 ! chest property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/6/6e/Closeup_of_female_breast.jpg xsd:anyURI property_value: taxon_notes "The breasts of a female primate's body contain the mammary glands, which secrete milk used to feed infants. Both men and women develop breasts from the same embryological tissues. However, at puberty female sex hormones, mainly estrogens, promote breast development, which does not happen with men. As a result women's breasts become more prominent than men's." xsd:string {source="WP,unvetted"} [Term] id: UBERON:0000317 name: colonic mucosa namespace: uberon alt_id: UBERON:0003347 alt_id: UBERON:0004981 def: "Mucosa that is part of a colon. The mucosa of the colon is lined by a simple columnar epithelium with a thin brush border and numerous goblet cells." [http://orcid.org/0000-0002-6601-2165] subset: efo_slim subset: human_reference_atlas synonym: "colon mucosa" EXACT [FMA:14984] synonym: "colon mucous membrane" EXACT [OBOL:automatic] synonym: "colonic mucosa" EXACT [] synonym: "colonic mucous membrane" EXACT [FMA:14984] synonym: "large bowel mucosa" EXACT [OBOL:automatic] synonym: "mucosa of colon" EXACT [FMA:14984] synonym: "mucosa of large bowel" EXACT [OBOL:automatic] xref: BTO:0000271 xref: CALOHA:TS-0164 xref: EFO:0003038 xref: EMAPA:27375 xref: FMA:14984 xref: FMA:85388 xref: MA:0003194 xref: SCTID:362157008 is_a: UBERON:0000344 ! mucosa intersection_of: UBERON:0000344 ! mucosa intersection_of: part_of UBERON:0001155 ! colon relationship: part_of UBERON:0000059 ! large intestine relationship: part_of UBERON:0000160 ! intestine relationship: part_of UBERON:0001155 ! colon relationship: part_of UBERON:0005409 ! alimentary part of gastrointestinal system property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0000319 name: cytotrophoblast namespace: uberon def: "The inner layer of the trophoblast, interior to the syncytiotrophoblast in an embryo. It serves to anchor the embryonic chorion to the maternal endometrium. Cytotrophoblasts are stem cells in the chorionic villi. During differentiation, mononuclear cytotrophoblast fuse together into the multinucleated syncytiotrophoblasts. The primary villi has only the cytotrophoblast as an axe. [WP,unvetted]." [http://placentation.ucsd.edu/glossfs.html, Wikipedia:Cytotrophoblast] synonym: "cellular trophoblast" EXACT [FMA:83039] synonym: "cytotrophoblastic cell" RELATED [FMA:83039] synonym: "cytotrophoblastic cell layer" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "cytotrophoblastus" RELATED LATIN [Wikipedia:Cytotrophoblast] synonym: "Langhans' layer" RELATED [Wikipedia:Cytotrophoblast] synonym: "layer of Langhans" RELATED [Wikipedia:Cytotrophoblast] xref: BTO:0000322 xref: EHDAA:127 xref: EHDAA:152 xref: EHDAA:89 xref: EMAPA:16067 xref: FMA:83039 xref: NCIT:C33919 xref: SCTID:308841008 xref: UMLS:C0230960 {source="ncithesaurus:Cytotrophoblast"} xref: VHOG:0000683 xref: Wikipedia:Cytotrophoblast is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0007106 ! chorionic villus property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/d/df/Gray36.png xsd:anyURI property_value: external_definition "A derivative layer of the trophoblast, the cells of which retain their boundaries and contribute to the extraembryonic mesoderm [Evolution, Fourth_Edition_(2006)_McGraw-Hill, Function, Vertebrates:_Comparative_Anatomy, p.189, see_Kardong_KV][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000683", ontology="VHOG", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "todo - unify with EHDAA2, which distinguishes multiple types of cytotrophoblast" xsd:string [Term] id: UBERON:0000323 name: late embryo namespace: uberon def: "An embryo that is at the late embryonic stage; this stage covers late steps of the embryogenesis with a fully formed embryo still developing before birth or egg hatching." [https://orcid.org/0000-0003-3308-6245] subset: efo_slim subset: pheno_slim synonym: "embryo late growth stage" RELATED [BTO:0000449] synonym: "embryo late stage" RELATED [BTO:0000449] synonym: "fetus" NARROW [BTO:0000449] xref: BTO:0000449 xref: CALOHA:TS-0360 xref: EFO:0001323 xref: FBbt:00005333 xref: FMA:63919 xref: GAID:552 xref: MESH:D005333 xref: NCIT:C13235 xref: SCTID:83418008 xref: UMLS:C0015965 {source="ncithesaurus:Fetus"} is_a: UBERON:0000922 ! embryo property_value: external_definition "Fetal structure, which is a developmental form of a vertebrate animal at any given time point from 8 weeks of gestation to birth (or hatching). Examples: There is only one fetus[FMA:63919]." xsd:string {source="FMA:63919"} property_value: IAO:0000116 "TODO - check fetus/embryo. WP: An embryo is a multicellular diploid eukaryote in its earliest stage of development, from the time of first cell division until birth, hatching, or germination. In humans, it is called an embryo until about eight weeks after fertilization (i.e. ten weeks LMP), and from then it is instead called a fetus." xsd:string [Term] id: UBERON:0000344 name: mucosa namespace: uberon def: "A lining of mostly endodermal origin, covered in epithelium, which is involved in absorption and secretion. They line various body cavities that are exposed to the external environment and internal organs. It is at several places continuous with skin: at the nostrils, the lips, the ears, the genital area, and the anus. The sticky, thick fluid secreted by the mucous membranes and gland is termed mucus. The term mucous membrane refers to where they are found in the body and not every mucous membrane secretes mucus[WP]." [Wikipedia:Mucous_membrane] subset: pheno_slim synonym: "mucosa of organ" EXACT [FMA:85355] synonym: "mucosa of organ part" EXACT [FMA:85358] synonym: "mucosal region" EXACT [FMA:85358] synonym: "mucous membrane" EXACT [FMA:85355] synonym: "organ mucosa" EXACT [FMA:85355] synonym: "region of mucosa" RELATED [FMA:85358] synonym: "tunica mucosa" RELATED LATIN [BTO:0000886, Wikipedia:Mucous_membrane] xref: AEO:0000199 xref: BTO:0000886 xref: CALOHA:TS-2031 xref: EHDAA2_RETIRED:0003234 xref: EV:0100382 xref: FMA:85355 xref: FMA:85358 xref: GAID:297 xref: galen:Mucosa xref: MESH:D009092 xref: NCIT:C13166 xref: SCTID:361693009 xref: UMLS:C0026724 {source="ncithesaurus:Mucosa"} xref: Wikipedia:Mucous_membrane is_a: UBERON:0000061 ! anatomical structure property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/4/4e/Ens.png xsd:anyURI property_value: depicted:by http://upload.wikimedia.org/wikipedia/en/thumb/4/4e/Ens.png/200px-Ens.png xsd:anyURI property_value: has_relational_adjective "mucosal" xsd:string property_value: RO:0002171 UBERON:0000009 property_value: UBPROP:0000012 "FMA has mucosa vs region of mucosa; these are subtypes of Mucosa: Mucosa of gallbladder, tongue, .... The following are subtypes of Region of mucosa: Mucosa of zone of stomach, trachea, bronchus, dorsum of tongue.... Depends on whether the covered area is an organ or organ component. Uberon does not regard organ vs organ component as crucial distinction and thus collapses these into a single class deliberately" xsd:string {external_ontology="FMA"} [Term] id: UBERON:0000358 name: blastocyst namespace: uberon def: "The mammalian blastocyst is a hollow ball of cells containing two cell types, the inner cell mass and the trophectoderm[GO]." [GO:0001824, Wikipedia:Blastocyst] subset: efo_slim synonym: "blastocystis" RELATED LATIN [Wikipedia:Blastocyst] synonym: "blastula" RELATED [FMA:83041] xref: BTO:0001099 xref: CALOHA:TS-0076 xref: EFO:0000295 xref: EMAPA:36035 xref: EV:0100394 xref: FMA:83041 xref: GAID:1153 xref: MESH:D001755 xref: NCIT:C13739 xref: SCTID:308837009 xref: UMLS:C1281743 {source="ncithesaurus:Blastocyst"} xref: Wikipedia:Blastocyst is_a: UBERON:0002050 ! embryonic structure property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/7/72/Blastocyst_English.svg xsd:anyURI property_value: IAO:0000116 "Gilbert fig11.32 has blastocyst has giving rise to ICM and trophoblast (which in this source is a synonym for trophectoderm)" xsd:string [Term] id: UBERON:0000362 name: renal medulla namespace: uberon def: "The inner portion of the kidney consisting of the renal pyramids." [ISBN:0-683-40008-8, MGI:smb, MP:0003014] comment: Note that 'renal medulla' is not synonymous with 'medullary region of kidney'. The former is composed of kidney pyramids only, while the latter covers kidney pyramids and renal columns, which are histologically different. subset: human_reference_atlas subset: pheno_slim synonym: "kidney medulla" EXACT [OBOL:automatic] synonym: "medulla of kidney" EXACT [OBOL:automatic] synonym: "medulla renalis" EXACT LATIN [FMA:74268, FMA:TA] synonym: "medullary pyramids" RELATED PLURAL [FMA:74268] synonym: "pyramides renales" EXACT LATIN [FMA:74268, FMA:TA] synonym: "renal marrow" RELATED [BTO:0001167] synonym: "renal medullae" EXACT PLURAL [FMA:86327] synonym: "renal medullae set" EXACT PLURAL [FMA:86327] synonym: "renal pyramids" EXACT PLURAL [FMA:74268] synonym: "renal pyramids set" EXACT PLURAL [FMA:74268] xref: BTO:0001167 xref: CALOHA:TS-1157 xref: EMAPA:19279 xref: GAID:425 xref: galen:MedullaOfKidney xref: MA:0000373 xref: MESH:D007679 xref: NCIT:C12740 xref: SCTID:30737000 xref: UMLS:C0022664 {source="ncithesaurus:Renal_Medulla"} xref: Wikipedia:Renal_medulla is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0002113 ! kidney property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/6/69/Illu_kidney.jpg xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 property_value: UBPROP:0000010 "The renal medulla is split up into a number of sections, known as the renal pyramids. Blood enters into the kidney via the renal artery, which then splits up to form the arcuate arterioles. The arcuate arterioles each in turn branch into interlobular arterioles, which finally reach the glomeruli. At the glomerulus the blood reaches a highly disfavourable pressure gradient and a large exchange surface area, which forces the serum portion of the blood out of the vessel into the renal tubules. Flow continues through the renal tubules, including the proximal tubule, the Loop of Henle, and finally leaves the kidney by means of the collecting duct, leading to the renal ureter. The renal medulla contains the structures of the nephrons responsible for maintaining the salt and water balance of the blood. The renal medulla is hypertonic to the filtrate in the nephron and aids in the reabsorption of water" xsd:string [Term] id: UBERON:0000365 name: urothelium namespace: uberon def: "An epithelial tissue layer that lines much of the urinary tract, including the renal pelvis, the ureters, the bladder, and parts of the urethra." [https://github.com/obophenotype/uberon/issues/92, Wikipedia:Urothelium] subset: pheno_slim synonym: "epithelium transitionale" EXACT [FMA:63914] synonym: "transitional epithelium" BROAD INCONSISTENT [] synonym: "transitional epithelium" EXACT [FMA:63914, https://github.com/obophenotype/uberon/issues/92] synonym: "uroepithelium" EXACT [FMA:67695] xref: BTO:0003906 xref: CALOHA:TS-1096 xref: EMAPA:37978 {source="MA:th"} xref: FMA:63914 xref: FMA:67695 xref: GAID:935 xref: MESH:D019459 xref: NCIT:C12884 xref: NCIT:C13318 xref: SCTID:30117005 xref: SCTID:57789003 xref: UMLS:C0225339 {source="ncithesaurus:Transitional_Epithelium"} xref: UMLS:C0227598 {source="ncithesaurus:Urothelium"} xref: Wikipedia:Transitional_epithelium xref: Wikipedia:Urothelium is_a: UBERON:0000483 ! epithelium relationship: part_of UBERON:0001008 ! renal system property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/9/91/Harnblase_Urothel.png xsd:anyURI property_value: has_relational_adjective "urothelial" xsd:string [Term] id: UBERON:0000369 name: corpus striatum namespace: uberon alt_id: UBERON:0010082 def: "The corpus striatum (striated body) is a compound structure consisting of the caudate nucleus and the lentiform nucleus, which consists of the putamen and the globus pallidus[WP]." [Wikipedia:Corpus_striatum] comment: * According to the 1917 version of Gray's Anatomy, it is the combination of the lentiform nucleus (also known as the lenticular nucleus) and the caudate nucleus * According to BrainInfo it is a part of the basal ganglia comprising the globus pallidus and striatum subset: efo_slim synonym: "striate body" RELATED [BTO:0001311] synonym: "striated body" RELATED [BTO:0001311] xref: BAMS:CSTR xref: BTO:0001311 xref: CALOHA:TS-0183 xref: EFO:0000381 xref: EHDAA2:0000596 xref: EMAPA:17549 xref: EV:0100184 xref: FMA:77616 xref: GAID:667 xref: MESH:D003342 xref: NCIT:C12448 xref: neuronames:2339 xref: SCTID:279318005 xref: UMLS:C0010097 {source="ncithesaurus:Corpus_Striatum"} xref: VHOG:0001175 xref: Wikipedia:Corpus_striatum is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0002420 ! basal ganglion property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/b/b3/Gray656.png xsd:anyURI property_value: homology_notes "Thus, certain telencephalic characters - such as the presence of a pallium divided into lateral, dorsal, and medial formations and a subpallium divided into striatum and septum - appear to characterize all vertebrates. They are primitive characters and are homologous among all vertebrates.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001175", ontology="VHOG", source="DOI:10.1146/annurev.ne.04.030181.001505, ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.487 Figure 14-10", source="http://bgee.unil.ch/"} property_value: UBPROP:0000013 "The term has been used in a few different ways: * It is a pair of nuclear masses which form the basal ganglia, along with the subthalamic nucleus and the substantia nigra. * It may also refer to both the basal ganglia and internal capsule collectively.[2]" xsd:string [Term] id: UBERON:0000371 name: syncytiotrophoblast namespace: uberon def: "Extraembryonic cells of trophoblastic shell surrounding embryo, outside the cytotrophoblast layer, involved with implantation of the blastocyst by eroding extracellular matrix surrounding maternal endometrial cells at site of implantation, also contribute to villi. (dark staining, multinucleated)." [http://embryology.med.unsw.edu.au/Notes/placenta5.htm, Wikipedia:Syncytiotrophoblast] synonym: "syncitiotrophoblast" RELATED [] synonym: "syncitiotrophoblastus" RELATED LATIN [Wikipedia:Syncytiotrophoblast] synonym: "syncytial trophoblast" EXACT [FMA:83040] synonym: "syntrophoblast" RELATED [] synonym: "syntrophoblast layer" EXACT [ISBN:0073040584] xref: BTO:0001335 xref: EHDAA:129 xref: EHDAA:91 xref: EMAPA:16068 xref: FMA:83040 xref: NCIT:C33918 xref: SCTID:256965005 xref: UMLS:C1135936 {source="ncithesaurus:Syncytiotrophoblast"} xref: Wikipedia:Syncytiotrophoblast is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0007106 ! chorionic villus property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/d/df/Gray36.png xsd:anyURI [Term] id: UBERON:0000376 name: hindlimb stylopod namespace: uberon def: "The part of the hindlimb between pelvis and the knee, corresponding to the femur." [http://orcid.org/0000-0002-6601-2165] subset: efo_slim subset: pheno_slim synonym: "femur" RELATED LATIN [Wikipedia:Thigh] synonym: "hind limb stylopod" EXACT [OBOL:automatic] synonym: "hind limb stylopodium" EXACT [VHOG:0000349] synonym: "hind propodium" EXACT [AAO:0000887] synonym: "hindlimb propodium" EXACT [AAO:0000887] synonym: "hindlimb stylopod" EXACT [OBOL:automatic] synonym: "hindlimb stylopodium" EXACT [OBOL:automatic] synonym: "proximal segment of free lower limb" EXACT [FMA:24967] synonym: "stylopod of hind limb" EXACT [OBOL:automatic] synonym: "stylopod of hindlimb" EXACT [OBOL:automatic] synonym: "stylopod of lower limb" EXACT [] synonym: "thigh" EXACT [] synonym: "upper leg" EXACT HUMAN_PREFERRED [MA:0000052] xref: BTO:0001376 xref: CALOHA:TS-2039 xref: EFO:0001943 xref: EHDAA2:0002130 xref: EHDAA:5171 xref: EHDAA:6200 xref: EMAPA:17499 xref: FMA:24967 xref: GAID:50 xref: galen:Thigh xref: MA:0000052 xref: MESH:D013848 xref: NCIT:C33763 xref: SCTID:302544002 xref: UMLS:C0039866 {source="ncithesaurus:Thigh"} xref: VHOG:0000349 xref: Wikipedia:Thigh is_a: EFO:0000808 ! animal body part is_a: UBERON:0002472 ! stylopod intersection_of: UBERON:0002472 ! stylopod intersection_of: part_of UBERON:0002103 ! hindlimb relationship: part_of UBERON:0000026 ! appendage relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000978 ! leg relationship: part_of UBERON:0002101 ! limb relationship: part_of UBERON:0002103 ! hindlimb property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/4/4b/Gray1238.png xsd:anyURI property_value: homology_notes "Most anatomists now agree that the three proximal bones of the tetrapod limbs are homologous to the two or three proximal elements of the paired fin skeleton of other sarcopterygians, that is the humerus-femur, radius-tibia, and ulna-fibula.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000349", ontology="VHOG", source="ISBN:978-0198540472 Janvier P, Early vertebrates (1996) p.268", source="http://bgee.unil.ch/"} property_value: UBPROP:0000013 "Naming conventions for pod terms under discussion within phenoscape group." xsd:string {seeAlso="https://github.com/obophenotype/uberon/issues/61"} [Term] id: UBERON:0000382 name: apocrine sweat gland namespace: uberon def: "Apocrine sweat glands are sweat glands composed of a coiled secretory portion located at the junction of the dermis and subcutaneous fat, from which a straight portion inserts and secretes into the infundibular portion of the hair follicle. The ducts of apocrine glands open into the canals of hair follicles. The stimulus for the secretion of apocrine sweat glands is adrenaline, which is a hormone carried in the blood[WP]." [PMID:18489347, Wikipedia:Apocrine_sweat_gland] subset: organ_slim subset: pheno_slim synonym: "glandula sudorifera apocrina" EXACT LATIN [Wikipedia:Apocrine_sweat_gland] xref: BTO:0001458 xref: EMAPA:37426 {source="MA:th"} xref: FMA:59155 xref: MESH:D001050 xref: NCIT:C32132 xref: SCTID:399916008 xref: UMLS:C0930083 {source="ncithesaurus:Apocrine_Sweat_Gland"} xref: Wikipedia:Apocrine_sweat_gland is_a: UBERON:0001820 ! sweat gland disjoint_from: UBERON:0000423 ! eccrine sweat gland relationship: never_in_taxon NCBITaxon:9822 {source="http://www.nal.usda.gov/awic/pubs/swine/swine.htm"} relationship: part_of UBERON:0001003 ! skin epidermis relationship: part_of UBERON:0002097 ! skin of body relationship: part_of UBERON:0002416 ! integumental system property_value: seeAlso https://github.com/obophenotype/uberon/issues/2111 xsd:string property_value: taxon_notes "In humans, apocrine sweat glands are found only in certain locations of the body: the axillae (armpits), the areola of the nipples, and the genitoanal region." xsd:string [Term] id: UBERON:0000383 name: musculature of body namespace: uberon def: "The subdivision of the musculoskeletal system that consists of all the muscles of the body[VSAO, modified]." [VSAO:0000033] subset: efo_slim subset: human_reference_atlas subset: pheno_slim synonym: "muscle system" EXACT [] synonym: "muscle system of body" EXACT [] synonym: "muscular system" EXACT [FMA:72954] synonym: "musculature system" EXACT [BILA:0000088] synonym: "muskelsystem" RELATED [BTO:0001485] synonym: "set of all muscles" EXACT [FMA:72954] synonym: "set of muscles of body" EXACT [FMA:72954] synonym: "vertebrate muscular system" EXACT [BTO:0001369] xref: AAO:0000307 xref: BILA:0000088 xref: BTO:0001369 xref: BTO:0001485 xref: EFO:0000801 xref: EMAPA:35578 xref: FMA:72954 xref: MA:0002888 xref: MAT:0000025 xref: MIAA:0000025 xref: VSAO:0000033 xref: XAO:0004042 is_a: UBERON:0000061 ! anatomical structure relationship: never_in_taxon NCBITaxon:6040 relationship: part_of UBERON:0000467 ! anatomical system property_value: external_definition "Anatomical system that consists of the muscles of the body.[VSAO]" xsd:string {date_retrieved="2012-08-14", external_class="VSAO:0000033", ontology="VSAO", source="VSAO:curator"} property_value: IAO:0000116 "consider whether this should be restricted to skeletal musculature. See https://github.com/obophenotype/uberon/issues/77" xsd:string property_value: RO:0002175 NCBITaxon:9606 property_value: UBPROP:0000012 "we place the MA term musculature here, rather than under uberon:musculature, as this seems more appropriate given the structure of MA" xsd:string {external_ontology="MA"} [Term] id: UBERON:0000411 name: visual cortex namespace: uberon def: "The part of the occipital lobe responsible for processing visual information." [Wikipedia:Visual_cortex] comment: The visual cortex is made up of Brodmann area 17 (the primary visual cortex), and Brodmann area 18 and Brodmann area 19, the extrastriate cortical areas, in humans. subset: efo_slim synonym: "higher-order visual cortex" RELATED [FMA:242644] synonym: "visual areas" RELATED [BAMS:VIS] xref: BAMS:VIS xref: BTO:0001857 xref: CALOHA:TS-1117 xref: EFO:0000916 xref: EMAPA:36446 xref: EV:0100171 xref: FMA:242644 xref: GAID:679 xref: MBA:669 xref: MESH:D014793 xref: neuronames:1911 xref: Wikipedia:Visual_cortex is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0000956 ! cerebral cortex relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0002021 ! occipital lobe property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/7/70/Brodmann_areas_17_18_19.png xsd:anyURI [Term] id: UBERON:0000423 name: eccrine sweat gland namespace: uberon def: "A merocrine, unbranched, unbranched, coiled, tubular gland sweat gland. In humans, distributed over almost all of the body surface, and promote cooling by evaporation of their secretion." [http://orcid.org/0000-0002-6601-2165, Wikipedia:Eccrine_sweat_gland] subset: human_reference_atlas subset: organ_slim subset: pheno_slim synonym: "eccrine gland" RELATED [FMA:59154] synonym: "glandula sudorifera eccrina" EXACT LATIN [Wikipedia:Eccrine_sweat_gland] synonym: "glandula sudorifera merocrina" EXACT LATIN [Wikipedia:Eccrine_sweat_gland] synonym: "merocrine sweat gland" RELATED [] xref: BTO:0002323 xref: FMA:59154 xref: GAID:945 xref: MA:0003039 xref: MESH:D004439 xref: NCIT:C32490 xref: SCTID:361699008 xref: UMLS:C0013492 {source="ncithesaurus:Eccrine_Sweat_Gland"} xref: Wikipedia:Eccrine_sweat_gland is_a: UBERON:0001820 ! sweat gland relationship: part_of UBERON:0001003 ! skin epidermis property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "in mice, found only on footpads; in humans, entire body including soles and palms" xsd:string [Term] id: UBERON:0000426 name: extravillous trophoblast namespace: uberon def: "The outermost layer of trophoblast, produced by cytotrophoblast where there is direct contact with maternal decidua rather than blood. The EVT cells travel into the decidua, reacting with NK cells and invading maternal blood vessels feeding the placenta, softening the walls and replacing the lining with fetal tissue, a process called conversion." [BTO:0002366] synonym: "intermediate trophoblast" EXACT [FMA:86561] synonym: "interstitial trophoblast" RELATED [BTO:0002366] xref: BTO:0002366 xref: FMA:86561 is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0001987 ! placenta [Term] id: UBERON:0000446 name: septum of telencephalon namespace: uberon def: "Gray matter structure located on the midline of the forebrain consisting of the septum pellucidum (in some species) and the septal nuclei (Heimer, 1996)." [BIRNLEX:963] subset: pheno_slim synonym: "area septalis" EXACT LATIN [FMA:61842, FMA:TA] synonym: "massa praecommissuralis" RELATED LATIN [NeuroNames:255] synonym: "Se" BROAD ABBREVIATION [PMID:23375746] synonym: "septal area" EXACT [FMA:61842] synonym: "septal region" RELATED [BAMS:SEP] synonym: "septum" BROAD [BIRNLEX:963] synonym: "septum (NN)" EXACT [FMA:61842] synonym: "septum pellucidum (BNA,PNA)" RELATED LATIN [NeuroNames:255] synonym: "septum telencephali" RELATED LATIN [NeuroNames:255] synonym: "telencephalon septum" EXACT [FMA:61842] xref: BAMS:SA xref: BAMS:SEP xref: BAMS:Sep xref: BAMS:Spt xref: BIRNLEX:963 xref: BM:Tel-Spt xref: BTO:0002705 xref: EMAPA:32837 xref: FMA:61842 xref: MA:0000924 xref: neuronames:255 {source="BIRNLEX:963"} xref: UMLS:C0752060 {source="BIRNLEX:963"} is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001017 ! central nervous system relationship: part_of UBERON:0001869 ! cerebral hemisphere relationship: part_of UBERON:0001890 ! forebrain relationship: part_of UBERON:0001893 ! telencephalon property_value: external_definition "Subdivision of the telencephalon on the midline between the lateral ventricles which contains the septum pellucidum and the septal nuclei[FMA][FMA:61842]." xsd:string {source="FMA:61842"} [Term] id: UBERON:0000451 name: prefrontal cortex namespace: uberon def: "The anterior part of the frontal lobes of the brain, lying in front of the motor and premotor areas.nnThis brain region has been implicated in planning complex cognitive behaviors, personality expression, decision making and moderating correct social behavior. The basic activity of this brain region is considered to be orchestration of thoughts and actions in accordance with internal goals.nnThe most typical psychological term for functions carried out by the pre-frontal cortex area is executive function. Executive function relates to abilities to differentiate among conflicting thoughts, determine good and bad, better and best, same and different, future consequences of current activities, working toward a defined goal, prediction of outcomes, expectation based on actions, and social 'control' (the ability to suppress urges that, if not suppressed, could lead to socially-unacceptable outcomes).nnMany authors have indicated an integral link between a person's personality and the functions of the prefrontal cortex. - definition adapted from Wikipedia." [NLXANAT:090801] subset: efo_slim synonym: "frontal association cortex" RELATED PENDING_REVIEW [MA:0000906] synonym: "prefrontal association complex" RELATED [BTO:0002807] synonym: "prefrontal association cortex" EXACT [FMA:224850] xref: BAMS:FrA xref: BTO:0002807 xref: DHBA:10172 xref: EFO:0001384 xref: EMAPA:35356 xref: FMA:224850 xref: GAID:676 xref: MA:0000906 xref: MESH:D017397 xref: neuronames:1072 xref: NLXANAT:090801 xref: Wikipedia:Prefrontal_cortex is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0000956 ! cerebral cortex relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0001870 ! frontal cortex property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/5/59/Gray726-Brodman-prefrontal.svg xsd:anyURI property_value: IAO:0000116 "TODO - check MA" xsd:string [Term] id: UBERON:0000453 name: decidua basalis namespace: uberon def: "Area of uterine endometrium found between the implanted chorionic vesicle and the myometrium." [https://sourceforge.net/p/obo/mammalian-phenotype-requests/1599, MP:0012529] subset: efo_slim subset: pheno_slim synonym: "basal decidua" RELATED [MGI:anna] synonym: "decidua serotina" RELATED [BTO:0002819] xref: BTO:0002819 xref: EFO:0001918 xref: EMAPA:35270 xref: FMA:86477 xref: MA:0002905 xref: NCIT:C32426 xref: SCTID:362841006 xref: UMLS:C0230965 {source="ncithesaurus:Decidua_Basalis"} is_a: UBERON:0001062 ! anatomical entity relationship: part_of UBERON:0001295 ! endometrium relationship: part_of UBERON:0001987 ! placenta property_value: UBPROP:0000011 "As the embryo enlarges, the decidua capsularis becomes stretched and smooth. Eventually the decidua capsularis merges with the decidua parietalis, obliterating the uterine cavity" xsd:string [Term] id: UBERON:0000467 name: anatomical system namespace: uberon def: "Multicellular, connected anatomical structure that has multiple organs as parts and whose parts work together to achieve some shared function." [CARO:0000011] subset: common_anatomy subset: pheno_slim subset: uberon_slim subset: upper_level synonym: "anatomical systems" RELATED PLURAL [ZFA:0001439] synonym: "body system" EXACT [BIRNLEX:14] synonym: "connected anatomical system" EXACT [CARO:0000011] synonym: "organ system" EXACT [] synonym: "system" BROAD [GO:0048731] xref: AAO:0000007 xref: AEO:0000011 xref: BILA:0000011 xref: BIRNLEX:14 xref: BSA:0000049 xref: CALOHA:TS-2088 xref: CARO:0000011 xref: EHDAA2:0003011 xref: EHDAA:392 xref: EMAPA:16103 xref: EV:0100000 xref: FBbt:00004856 xref: FMA:7149 xref: galen:AnatomicalSystem xref: HAO:0000011 xref: MA:0000003 xref: NCIT:C12919 xref: SCTID:278195005 xref: TAO:0001439 xref: TGMA:0001831 xref: UMLS:C0460002 {source="ncithesaurus:Organ_System"} xref: VHOG:0001725 xref: WBbt:0005746 xref: WBbt:0005763 xref: Wikipedia:Organ_system xref: XAO:0003002 xref: ZFA:0001439 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000468 ! multicellular organism relationship: seeAlso EHDAA2:0001330 property_value: RO:0002175 NCBITaxon:33090 property_value: RO:0002175 NCBITaxon:33208 property_value: RO:0002175 NCBITaxon:4751 [Term] id: UBERON:0000468 name: multicellular organism namespace: uberon def: "Anatomical structure that is an individual member of a species and consists of more than one cell." [CARO:0000012, http://orcid.org/0000-0001-9114-8737, Wikipedia:Multi-cellular_organism] subset: common_anatomy subset: efo_slim subset: pheno_slim subset: uberon_slim subset: upper_level synonym: "body" RELATED [AEO:0000103, BIRNLEX:18, FMA:256135, NCIT:C13041] synonym: "Koerper" RELATED [BTO:0001489] synonym: "multi-cellular organism" EXACT [CARO:0000012] synonym: "organism" BROAD [FBbt:00000001, VHOG:0000671, WBbt:0007833] synonym: "whole body" RELATED [BTO:0001489] synonym: "whole organism" RELATED [FBbt:00000001] xref: AAO:0010026 xref: AEO:0000191 xref: BILA:0000012 xref: BIRNLEX:18 xref: BSA:0000038 xref: BTO:0000042 xref: CARO:0000012 xref: EFO:0002906 xref: EHDAA2:0003103 xref: EHDAA2:0003191 xref: EHDAA:1 xref: EMAPA:25765 xref: EV:0100016 xref: FBbt:00000001 xref: FMA:256135 xref: galen:Organism xref: HAO:0000012 xref: NCIT:C13041 xref: ncithesaurus:Whole_Organism xref: SCTID:243928005 xref: TADS:0000001 xref: TAO:0001094 xref: TGMA:0001832 xref: VHOG:0000671 xref: WBbt:0007833 xref: Wikipedia:Multi-cellular_organism xref: XAO:0003004 xref: ZFA:0001094 is_a: UBERON:0000061 ! anatomical structure property_value: has_relational_adjective "organismal" xsd:string property_value: IAO:0000116 "TODO - split body and mc organism? body continues after death stage" xsd:string property_value: RO:0002175 NCBITaxon:33090 property_value: RO:0002175 NCBITaxon:33208 property_value: RO:0002175 NCBITaxon:4751 [Term] id: UBERON:0000473 name: testis namespace: uberon alt_id: UBERON:0002117 def: "A gonad of a male animal. A gonad produces and releases sperm." [http://orcid.org/0000-0002-6601-2165] subset: efo_slim subset: organ_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "gonad of male genitalia" EXACT [OBOL:automatic] synonym: "gonad of male reproductive system" EXACT [OBOL:automatic] synonym: "male gonad" EXACT [OBOL:automatic] synonym: "orchis" RELATED [BTO:0001363] synonym: "testes" RELATED PLURAL [] synonym: "testicle" EXACT [FMA:7210] synonym: "testiculus" RELATED LATIN [BTO:0001363] xref: AAO:0000606 xref: BILA:0000124 xref: BSA:0000085 xref: BTO:0001363 xref: CALOHA:TS-1030 xref: EFO:0000984 xref: EHDAA2:0002007 xref: EHDAA:8146 xref: EMAPA:17972 xref: EV:0100102 xref: FBbt:00004928 xref: FMA:7210 xref: GAID:396 xref: galen:Testis xref: HAO:0001007 xref: MA:0000411 xref: MAT:0000132 xref: MESH:D013737 xref: MIAA:0000132 xref: NCIT:C12412 xref: SCTID:181431007 xref: TAO:0000598 xref: UMLS:C0039597 {source="ncithesaurus:Testis"} xref: VHOG:0000252 xref: WBbt:0006794 xref: Wikipedia:Testis xref: XAO:0000157 xref: ZFA:0000598 is_a: UBERON:0000991 ! gonad intersection_of: UBERON:0000991 ! gonad intersection_of: part_of UBERON:0000079 ! male reproductive system disjoint_from: UBERON:0000992 ! ovary relationship: part_of UBERON:0000079 ! male reproductive system relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0000990 ! reproductive system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/c/c3/Gray1144.png xsd:anyURI property_value: external_definition "Male reproductive organ.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000598", ontology="TAO", source="ZFIN:curator"} property_value: has_relational_adjective "testicular" xsd:string property_value: homology_notes "(...) while it is likely that Urbilateria lacked a complex somatic reproductive system, it is at present impossible to speculate on whether or not it possessed a true gonad, let alone any other somatic adaptations for reproduction (reference 1); Examination of different vertebrate species shows that the adult gonad is remarkably similar in its morphology across different phylogenetic classes. Surprisingly, however, the cellular and molecular programs employed to create similar organs are not evolutionarily conserved (reference 2).[uncertain][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000252", ontology="VHOG", source="DOI:10.1093/icb/icm052 Extavour CGM, Gray anatomy: phylogenetic patterns of somatic gonad structures and reproductive strategies across the Bilateria. Integrative and Comparative Biology (2007), DOI:10.1146/annurev.cellbio.042308.13350 DeFalco T and Capel B, Gonad morphogenesis in vertebrates: divergent means to a convergent end. Annual review of cell and developmental biology (2009)", source="http://bgee.unil.ch/"} property_value: taxon_notes "The testes are descended in metatherian and eutherian mammals, first transabdominally, then inguinoscrotally" xsd:string {source="ISBN:0123971756", taxon="NCBITaxon:40674"} [Term] id: UBERON:0000474 name: female reproductive system namespace: uberon def: "The organs and associated structures associated with bearing offspring in a female animal." [http://orcid.org/0000-0002-6601-2165, MP:0001119, Wikipedia:Female_genitalia] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "female genital system" RELATED [] synonym: "female genital tract" RELATED [] synonym: "female genitalia" RELATED [] synonym: "female genitals" RELATED PLURAL [XAO:0000156] synonym: "female organism genitalia" EXACT [OBOL:automatic] synonym: "female organism reproductive system" EXACT [OBOL:automatic] synonym: "female reproductive tract" RELATED [MA:0000381] synonym: "genitalia of female organism" EXACT [OBOL:automatic] synonym: "gynaecological tissue" RELATED [BTO:0000083] synonym: "reproductive system of female organism" EXACT [OBOL:automatic] synonym: "systema genitale femininum" RELATED [BTO:0000083] xref: BTO:0000083 xref: CALOHA:TS-1303 xref: EFO:0000969 xref: EHDAA2:0000506 xref: EHDAA:8116 xref: EMAPA:17959 xref: EV:0100110 xref: FBbt:00004864 xref: FMA:45663 xref: GAID:364 xref: HAO:0000324 xref: MA:0000381 xref: MESH:D005836 xref: MIAA:0000028 xref: NCIT:C12402 xref: SCTID:361386004 xref: TGMA:0000635 xref: UMLS:C0700038 {source="ncithesaurus:Female_Reproductive_System"} xref: VHOG:0000726 xref: Wikipedia:Female_genitalia xref: WikipediaCategory:Female_reproductive_system xref: XAO:0000156 is_a: UBERON:0000990 ! reproductive system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/6/68/Scheme_female_reproductive_system-en.svg xsd:anyURI property_value: homology_notes "By far, sexual reproduction is the more common pattern among living vertebrate forms and its widespread occurrence suggests that it is the plesiomorphic, or primitive, reproductive mode among the vertebrates.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000726", ontology="VHOG", source="ISBN:978-0792383369 Lombardi J, Comparative vertebrate reproduction (1998) p.43", source="http://bgee.unil.ch/"} [Term] id: UBERON:0000483 name: epithelium namespace: uberon def: "Portion of tissue, that consists of one or more layers of epithelial cells connected to each other by cell junctions and which is underlain by a basal lamina. Examples: simple squamous epithelium, glandular cuboidal epithelium, transitional epithelium, myoepithelium[CARO]." [http://orcid.org/0000-0001-9114-8737, Wikipedia:Epithelium] comment: Editor note: surface epithelium may contain non-epithelial cells, such as melanocytes, lymphocytes and dendritic cells, within the sheet of epithelial cells. Do we consider these part of the epithelium, or located-in it? subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "epithelial tissue" EXACT [] synonym: "portion of epithelium" EXACT [FMA:9639] xref: AAO:0000144 xref: AAO:0010055 xref: AEO:0000066 xref: BILA:0000066 xref: BTO:0000416 xref: CALOHA:TS-0288 xref: CARO:0000066 xref: EHDAA2:0003066 xref: EMAPA:32738 xref: FBbt:00007005 xref: FMA:9639 xref: GAID:402 xref: HAO:0000066 xref: MA:0003060 xref: MESH:D004848 xref: NCIT:C12710 xref: SCTID:31610004 xref: TAO:0001486 xref: UMLS:C0014609 {source="ncithesaurus:Epithelium"} xref: VHOG:0000387 xref: Wikipedia:Epithelium xref: XAO:0003045 xref: ZFA:0001486 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000468 ! multicellular organism property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/8/8f/Illu_epithelium.jpg xsd:anyURI property_value: has_relational_adjective "epithelial" xsd:string property_value: homology_notes "The two basic types of metazoan tissue are epithelial and connective. The simplest metazoans, and developmental stages of many primitive invertebrates, consist solely of these two layers. Thus, epithelial and connective tissues may be the primary (original) tissues of metazoans, and both are important in the functional organization of animals.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000387", ontology="VHOG", source="ISBN:978-0030259821 Ruppert EE, Fox RS, Barnes RD, Invertebrate zoology: a functional evolutionary approach (2003) p.59", source="http://bgee.unil.ch/"} [Term] id: UBERON:0000914 name: organismal segment namespace: uberon def: "One of the repeated divisions of the whole organism." [FB:gg, Wikipedia:Segmentation_(biology)] subset: uberon_slim subset: upper_level synonym: "segment" EXACT [FBbt:00000003] synonym: "serial element" EXACT [] xref: FBbt:00000003 xref: HAO:0000929 xref: MAT:0000271 xref: MIAA:0000271 xref: Wikipedia:Segmentation_(biology) is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000468 ! multicellular organism property_value: IAO:0000116 "review this post-CARO2" xsd:string [Term] id: UBERON:0000915 name: thoracic segment of trunk namespace: uberon def: "Subdivision of trunk that lies between the head and the abdomen." [http://orcid.org/0000-0002-6601-2165] subset: uberon_slim synonym: "anterior subdivision of trunk" RELATED [] synonym: "thorax" EXACT [MA:0000022] synonym: "upper body" RELATED [] synonym: "upper trunk" RELATED [FMA:259209] xref: EMAPA:35862 xref: FMA:259209 xref: MA:0000022 xref: SCTID:302551006 xref: Wikipedia:Thorax is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0002100 ! trunk property_value: IAO:0000232 "note that we use the slightly verbose term 'thoracic segment of trunk' to avoid confusuon with insect thorax. todo - taxonomic constraints. Also, in FMA 'thorax' is a synonym for chest" xsd:string property_value: RO:0002171 UBERON:0000026 property_value: RO:0002171 UBERON:0000033 property_value: RO:0002171 UBERON:0002417 [Term] id: UBERON:0000916 name: abdomen namespace: uberon def: "The subdivision of the vertebrate body between the thorax and pelvis. The ventral part of the abdomen contains the abdominal cavity and visceral organs. The dorsal part includes the abdominal section of the vertebral column." [http://orcid.org/0000-0002-6601-2165] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "abdominopelvic region" EXACT [FMA:9577] synonym: "abdominopelvis" EXACT [FMA:9577] synonym: "adult abdomen" RELATED [] synonym: "belly" RELATED [] synonym: "celiac region" RELATED [] xref: BTO:0000020 xref: CALOHA:TS-0001 xref: EFO:0000968 xref: EMAPA:35102 xref: EV:0100011 xref: FMA:9577 xref: GAID:16 xref: galen:Abdomen xref: MA:0000029 xref: MAT:0000298 xref: MESH:D000005 xref: MIAA:0000298 xref: SCTID:302553009 xref: Wikipedia:Abdomen is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0002100 ! trunk property_value: has_relational_adjective "abdominal" xsd:string property_value: has_relational_adjective "celiac" xsd:string property_value: IAO:0000116 "Vertebrate specific. In arthropods 'abdomen' is the most distal section of the body which lies behind the thorax or cephalothorax. If need be we can introduce some grouping class" xsd:string [Term] id: UBERON:0000922 name: embryo namespace: uberon def: "Anatomical entity that comprises the organism in the early stages of growth and differentiation that are characterized by cleavage, the laying down of fundamental tissues, and the formation of primitive organs and organ systems. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant." [BTO:0000379, FB:FBrf0039741, FB:FBrf0041814, GO:0009790, Wikipedia:Embryo] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "developing organism" RELATED [BILA:0000056] synonym: "developmental tissue" RELATED [] synonym: "embryonic organism" EXACT [BILA:0000056] xref: AAO:0011035 xref: AEO:0000169 xref: BILA:0000056 xref: BSA:0000039 xref: BTO:0000379 xref: CALOHA:TS-0229 xref: EFO:0001367 xref: EHDAA2:0000002 xref: EHDAA2_RETIRED:0003236 xref: EHDAA:38 xref: EMAPA:16039 xref: FBbt:00000052 xref: FMA:69068 xref: GAID:963 xref: http://neurolex.org/wiki/Category\:Embryonic_organism xref: MAT:0000226 xref: MESH:D004622 xref: MIAA:0000019 xref: NCIT:C28147 xref: OGEM:000001 xref: SCTID:57991002 xref: UMLS:C0013935 {source="ncithesaurus:Embryo"} xref: VHOG:0001766 xref: Wikipedia:Embryo xref: XAO:0000113 xref: ZFA:0000103 is_a: UBERON:0000468 ! multicellular organism property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/2/2d/Wrinkledfrog_embryos.jpg xsd:anyURI property_value: has_relational_adjective "embryonic" xsd:string property_value: seeAlso https://github.com/obophenotype/uberon/issues/503 xsd:anyURI property_value: UBPROP:0000012 "Obsoleted in ZFA. Note that embryo is not classified as an embryonic structure - an embryonic structure is only the parts of an embryo" xsd:string {external_ontology="ZFA"} [Term] id: UBERON:0000924 name: ectoderm namespace: uberon def: "Primary germ layer that is the outer of the embryo's three germ layers and gives rise to epidermis and neural tissue." [Wikipedia:Ectoderm] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "embryonic ectoderm" EXACT [VHOG:0000153] xref: AAO:0000137 xref: BILA:0000036 xref: BTO:0000315 xref: CALOHA:TS-0216 xref: EFO:0000414 xref: EHDAA2:0000428 xref: EMAPA:16069 xref: EV:0100003 xref: FBbt:00000111 xref: FMA:69070 xref: GAID:1304 xref: MAT:0000155 xref: MAT:0000173 xref: MESH:D004475 xref: MIAA:0000173 xref: NCIT:C12703 xref: SCTID:362851007 xref: TAO:0000016 xref: UMLS:C0013574 {source="ncithesaurus:Ectoderm"} xref: VHOG:0000153 xref: Wikipedia:Ectoderm xref: XAO:0000001 xref: ZFA:0000016 is_a: UBERON:0000061 ! anatomical structure is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0002050 ! embryonic structure property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/1/19/Gray32.png xsd:anyURI property_value: external_definition "Primary germ layer that is the outer of the embryonic germ layers and gives rise to epidermis and neural tissue.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000137", ontology="AAO", source="AAO:EJS"} property_value: has_relational_adjective "ectodermal" xsd:string property_value: homology_notes "The Bilateria are triploblastic (with true endoderm, mesoderm, and ectoderm) (...).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000153", ontology="VHOG", source="ISBN:978-0878932504 Gilbert SF, Developmental Biology (2006) Limb development and evolution, p.722", source="http://bgee.unil.ch/"} [Term] id: UBERON:0000925 name: endoderm namespace: uberon def: "Primary germ layer that lies remote from the surface of the embryo and gives rise to internal tissues such as gut." [Wikipedia:Endoderm] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "entoderm" RELATED DEPRECATED [DOI:10.5962/bhl.title.1013] xref: AAO:0000139 xref: BILA:0000038 xref: BTO:0000800 xref: CALOHA:TS-0273 xref: EFO:0002545 xref: EHDAA2:0000436 xref: EMAPA:16062 xref: EV:0100005 xref: FBbt:00000125 xref: FMA:69071 xref: GAID:1305 xref: MAT:0000175 xref: MESH:D004707 xref: MIAA:0000175 xref: NCIT:C12706 xref: SCTID:362855003 xref: TAO:0000017 xref: UMLS:C0014144 {source="ncithesaurus:Endoderm"} xref: VHOG:0000154 xref: Wikipedia:Endoderm xref: XAO:0000090 xref: ZFA:0000017 is_a: UBERON:0000061 ! anatomical structure is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0002050 ! embryonic structure property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/c/c0/Endoderm2.png xsd:anyURI property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/d/df/Gray10.png xsd:anyURI property_value: has_relational_adjective "endodermal" xsd:string property_value: homology_notes "The Bilateria are triploblastic (with true endoderm, mesoderm, and ectoderm) (...).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000154", ontology="VHOG", source="ISBN:978-0878932504 Gilbert SF, Developmental Biology (2006) Limb development and evolution, p.722", source="http://bgee.unil.ch/"} [Term] id: UBERON:0000926 name: mesoderm namespace: uberon alt_id: UBERON:0003263 def: "The middle germ layer of the embryo, between the endoderm and ectoderm." [Wikipedia:Mesoderm] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "embryonic mesoderm" RELATED [VHOG:0000152] synonym: "entire mesoderm" RELATED [https://orcid.org/0000-0002-6601-2165, SCTID:362854004] synonym: "mesodermal mantle" RELATED [] xref: AAO:0000304 xref: BILA:0000037 xref: BTO:0000839 xref: CALOHA:TS-0623 xref: EFO:0001981 xref: EHDAA2:0001128 xref: EHDAA:124 xref: EHDAA:160 xref: EHDAA:183 xref: EMAPA:16083 xref: EV:0100006 xref: FBbt:00000126 xref: FMA:69072 xref: GAID:522 xref: MAT:0000174 xref: MESH:D008648 xref: MIAA:0000174 xref: NCIT:C12750 xref: SCTID:362854004 xref: TAO:0000041 xref: UMLS:C0025485 {source="ncithesaurus:Mesoderm"} xref: VHOG:0000152 xref: Wikipedia:Mesoderm xref: XAO:0000050 xref: ZFA:0000041 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0002050 ! embryonic structure relationship: never_in_taxon NCBITaxon:6040 relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0002050 ! embryonic structure property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/e/e8/Mesoderm.png xsd:anyURI property_value: external_definition "Primary germ layer that is the middle of the embryonic germ layers.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000304", ontology="AAO", source="AAO:EJS"} property_value: has_relational_adjective "mesodermal" xsd:string property_value: homology_notes "The Bilateria are triploblastic (with true endoderm, mesoderm, and ectoderm) (...).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000152", ontology="VHOG", source="ISBN:978-0878932504 Gilbert SF, Developmental Biology (2006) Limb development and evolution, p.722", source="http://bgee.unil.ch/"} property_value: taxon_notes "sponges do not seem to have a mesoderm and accordingly Amphimedon lacks transcription factors involved in mesoderm development (Fkh, Gsc, Twist, Snail)[http://www.nature.com/nature/journal/v466/n7307/full/nature09201.html]. Mesoderm may not be homologous across verteberates" xsd:string {source="https://github.com/obophenotype/uberon/wiki/The-neural-crest"} [Term] id: UBERON:0000927 name: mesectoderm namespace: uberon def: "A double row of cells which are located at the midline from the end of gastrulations. The morphology of these cells is distinct from adjacent ectodermal cells - they are elongated such that one end remains exposed to the outside of the embryo at the mideline while the other end bissects the internalised mesoderm." [FB:FBrf0089570] comment: Split term? The part of the mesenchyme derived from ectoderm, especially from the embryonic neural crest from which the pigment cells, meninges, and most of the branchial cartilages develop.[TFD] subset: efo_slim subset: uberon_slim synonym: "MesEc" RELATED [] xref: EFO:0003336 xref: FBbt:00000136 xref: MAT:0000243 xref: MIAA:0000243 is_a: UBERON:0000061 ! anatomical structure is_a: UBERON:0002050 ! embryonic structure relationship: develops_from FBbt:00000109 ! mesectoderm anlage relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0002050 ! embryonic structure property_value: has_relational_adjective "mesectodermal" xsd:string [Term] id: UBERON:0000933 name: chordate pharyngeal muscle namespace: uberon def: "A muscle that acts on the pharynx[WP, vetted]." [https://orcid.org/0000-0002-6601-2165, Wikipedia:Pharyngeal_muscles] comment: Innervation notes: They are innervated by the pharyngeal branch of the Vagus nerve (CN X) with the exception of the stylopharyngeus muscle which is innervated by the glossopharyngeal nerve (CN IX).[WP] subset: efo_slim subset: pheno_slim synonym: "branchial muscle" EXACT [ZFA:0000172] synonym: "branchial muscles" RELATED PLURAL [TAO:0000172] synonym: "muscle of pharynx" EXACT [] synonym: "muscle organ of pharynx" EXACT [OBOL:automatic] synonym: "musculi pharyngis" RELATED LATIN [Wikipedia:Pharyngeal_muscles] synonym: "musculus pharyngis" RELATED [BTO:0001048] synonym: "pharyngeal muscle" EXACT [] synonym: "pharynx muscle" EXACT [] synonym: "pharynx muscle organ" EXACT [OBOL:automatic] synonym: "tunica muscularis pharyngis" RELATED LATIN [Wikipedia:Pharyngeal_muscles] xref: BTO:0001048 xref: EFO:0003504 xref: EMAPA:18963 xref: FMA:46619 xref: GAID:154 xref: MA:0001797 xref: MESH:D010609 xref: NCIT:C13075 xref: SCTID:244798004 xref: TAO:0000172 xref: UMLS:C0031346 {source="ncithesaurus:Pharyngeal_Muscle"} xref: Wikipedia:Pharyngeal_muscles xref: ZFA:0000172 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001015 ! musculature relationship: UBPROP:0000202 FMA:67169 ! fma_set_term property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/3/35/Gray1030.png xsd:anyURI property_value: external_definition "A pharyngeal muscle is any muscle that forms part of the pharynx[GO]." xsd:string {date_retrieved="2012-06-30", external_class="GO:0043282", notes="does not quite work for some muscles such as stylopharyngeus", ontology="GO", source="GOC:go_curators"} [Term] id: UBERON:0000934 name: ventral nerve cord namespace: uberon def: "The pair of closely united ventral longitudinal nerves with their segmental ganglia that is characteristic of many elongate invertebrates (as earthworms)[BTO]. A large process bundle that runs along the vental mid-line extending from the ventral region of the nerve ring[WB]. The ventral cord is one of the distinguishing traits of the central nervous system of all arthropods (such as insects, crustaceans and arachnids) as well as many other invertebrates, such as the annelid worms[GO]." [BTO:0002328, GO:0007419, WB:Paper00000938, Wikipedia:Ventral_nerve_cord] subset: efo_slim subset: uberon_slim synonym: "ventral cord" EXACT [GO:0007419] xref: BTO:0002328 xref: EFO:0000896 xref: FBbt:00005097 xref: MAT:0000339 xref: MIAA:0000339 xref: NLX:146329 xref: WBbt:0005829 xref: Wikipedia:Ventral_nerve_cord is_a: UBERON:0000061 ! anatomical structure relationship: never_in_taxon NCBITaxon:7711 relationship: part_of UBERON:0001016 ! nervous system property_value: external_definition "A cluster of neurons that extends posteriorly from the embryonic and larval brain and is surrounded by a connective tissue sheath." xsd:string {source="FBbt:00001102"} property_value: taxon_notes "The ventral nerve cords make up the nervous system of some phyla of the invertebrates, particularly within the nematodes, annelids and the arthropods. It usually consists of cerebral ganglia anteriorly with the nerve cords running down the ventral ('belly', as opposed to back) plane of the organism. This characteristic is important in qualifying the difference compared to the chordates, which have a dorsal nerve cord. Ventral nerve cords from anterior to posterior (the thoracic and abdominal tagma in the arthropods) are made up of segmented ganglia that are connected by a tract of nerve fibers passing from one side to the other of the nerve cord called commissures. The complete system bears some likeness to a rope ladder. In some animals the bilateral ganglia are fused into a single large ganglion per segment. This characteristic is found mostly in the insects." xsd:string [Term] id: UBERON:0000945 name: stomach namespace: uberon def: "An expanded region of the vertebrate alimentary tract that serves as a food storage compartment and digestive organ. A stomach is lined, in whole or in part by a glandular epithelium." [https://orcid.org/0000-0002-6601-2165, ISBN:0073040584, Wikipedia:Stomach] subset: efo_slim subset: major_organ subset: organ_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "anterior intestine" RELATED [] synonym: "gaster" RELATED [BTO:0001307] synonym: "mesenteron" RELATED [] synonym: "stomach chamber" NARROW [] synonym: "ventriculus" RELATED LATIN [Wikipedia:Stomach] xref: AAO:0000579 xref: ANISEED:1235297 xref: BTO:0001307 xref: CALOHA:TS-0980 xref: EFO:0000837 xref: EHDAA2:0001915 xref: EHDAA:2993 xref: EMAPA:17021 xref: EV:0100070 xref: FMA:7148 xref: GAID:293 xref: galen:Stomach xref: MA:0000353 xref: MAT:0000051 xref: MESH:D013270 xref: MIAA:0000051 xref: NCIT:C12391 xref: SCTID:181246003 xref: TAO:0002121 xref: UMLS:C0038351 {source="ncithesaurus:Stomach"} xref: VHOG:0000408 xref: Wikipedia:Stomach xref: XAO:0000128 is_a: UBERON:0000061 ! anatomical structure relationship: never_in_taxon NCBITaxon:7864 {source="Wikipedia"} relationship: never_in_taxon NCBITaxon:7878 {source="Wikipedia"} relationship: never_in_taxon NCBITaxon:7955 {source="ZFA"} ! Danio rerio relationship: never_in_taxon NCBITaxon:9259 {source="Wikipedia"} relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001007 ! digestive system relationship: part_of UBERON:0005409 ! alimentary part of gastrointestinal system property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/e/e0/Stomach_diagram.svg xsd:anyURI property_value: external_definition "Portion of alimentary canal with increased circular and longitudinal smooth muscle. Bounded posteriorly by the pyloric sphincter. Mucosal lining has increased folding.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000579", ontology="AAO", source="AAO:EJS"} property_value: homology_notes "It appears that the stomach has an ancient origin. The stomach first appears in the fish lineage. The prevertebrate chordates do not have a true stomach, whereas the cartilaginous and bony fish do. Although most fish do have a true stomach, some fish species appear to have lost the stomach secondarily. The remaining vertebrate lineages do have a true stomach (at least in the adult animal), although there is great variation in the size and shape of the stomach.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000408", ontology="VHOG", source="DOI:10.1046/j.1525-142x.2000.00076.x Smith DM, Grasty RC, Theodosiou NA, Tabin CJ, Nascone-Yoder NM, Evolutionary relationships between the amphibian, avian, and mammalian stomachs. Evolution and development (2000)", source="http://bgee.unil.ch/"} property_value: taxon_notes "We restrict this to the vertebrate specific structure - see the grouping class 'food storage organ' for analogous structures in other species. Teleosts: Zebrafish is functionally stomach-less, but may retain ontogenic footprint. Although the precise shape and size of the stomach varies widely among different vertebrates, the relative positions of the oesophageal and duodenal openings remain relatively constant. As a result, the organ always curves somewhat to the left before curving back to meet the pyloric sphincter. However, lampreys, hagfishes, chimaeras, lungfishes, and some teleost fish have no stomach at all, with the oesophagus opening directly into the intestine. The gastric lining is usually divided into two regions, an anterior portion lined by fundic glands, and a posterior with pyloric glands. Cardiac glands are unique to mammals, and even then are absent in a number of species. The distributions of these glands vary between species, and do not always correspond with the same regions as in man. Furthermore, in many non-human mammals, a portion of the stomach anterior to the cardiac glands is lined with epithelium essentially identical to that of the oesophagus. Ruminants, in particular, have a complex stomach, the first three chambers of which are all lined with oesophageal mucosa" xsd:string {source="WP:Stomach#In_other_animals"} [Term] id: UBERON:0000947 name: aorta namespace: uberon def: "The main trunk of the systemic arterial system that carries blood from the heart to all the organs and other structures of the body, bringing oxygenated blood to all parts of the body in the systemic circulation." [http://orcid.org/0000-0002-6601-2165, ISBN:0-683-40008-8, MESH:A07.231.114.056, MP:0000272, Wikipedia:Aorta] subset: efo_slim subset: grouping_class subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "arteria maxima" RELATED LATIN [Wikipedia:Aorta] synonym: "dorsal aorta" NARROW SENSU [Wikipedia:Aorta#In_other_animals, ZFA:0000014] synonym: "trunk of aortic tree" EXACT [] synonym: "trunk of systemic arterial tree" EXACT [] xref: AAO:0010213 xref: BTO:0000135 xref: CALOHA:TS-0046 xref: EFO:0000265 xref: EMAPA:18601 xref: EV:0100027 xref: FMA:3734 xref: GAID:469 xref: galen:Aorta xref: MA:0000062 xref: MAT:0000035 xref: MESH:D001011 xref: MIAA:0000035 xref: NCIT:C12669 xref: SCTID:181298001 xref: UMLS:C0003483 {source="ncithesaurus:Aorta"} xref: VHOG:0001523 xref: Wikipedia:Aorta xref: XAO:0003010 is_a: UBERON:0001981 ! blood vessel property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/9/91/Aorta_scheme.jpg xsd:anyURI property_value: external_definition "The main artery of the circulatory system which carries oxygenated blood from the heart to all the arteries of the body except those of the lungs.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010213", ontology="AAO", source="AAO:BJB"} property_value: has_relational_adjective "aortic" xsd:string property_value: homology_notes "When vertebrates first appeared, they must have possessed a ventral and dorsal aorta with aortic arches between them.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001523", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.620", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "This class is currently a mixed bag, encompassing (1) the entirety of the mammalian aorta together with (2) the developmental and phylogenetic homologs of its segments: the ventral aorta and dorsal aortae." xsd:string {source="WP"} property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "All amniotes have a broadly similar arrangement to that of humans, albeit with a number of individual variations. In fish, however, there are two separate vessels referred to as aortas. The ventral aorta carries de-oxygenated blood from the heart to the gills; part of this vessel forms the ascending aorta in tetrapods (the remainder forms the pulmonary artery). A second, dorsal aorta carries oxygenated blood from the gills to the rest of the body, and is homologous with the descending aorta of tetrapods. The two aortas are connected by a number of vessels, one passing through each of the gills. Amphibians also retain the fifth connecting vessel, so that the aorta has two parallel arches" xsd:string [Term] id: UBERON:0000948 name: heart namespace: uberon def: "A myogenic muscular circulatory organ found in the vertebrate cardiovascular system composed of chambers of cardiac muscle. It is the primary circulatory organ." [http://orcid.org/0000-0002-6601-2165, Wikipedia:Heart] comment: Taxon notes:" the ascidian tube-like heart lacks chambers....The ascidian heart is formed after metamorphosis as a simple tube-like structure with a single-layered myoepithelium that is continuous with a single-layered pericar- dial wall. It lacks chambers and endocardium.... The innovation of the chambered heart was a key event in vertebrate evolution, because the chambered heart generates one-way blood flow with high pressure, a critical requirement for the efficient blood supply of large-body vertebrates... all extant vertebrates have hearts with two or more chambers (Moorman and Christoffels 2003)" DOI:10.1101/gad.1485706 subset: efo_slim subset: human_reference_atlas subset: major_organ subset: organ_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "branchial heart" NARROW SENSU [] synonym: "cardium" RELATED [EMAPA:16105] synonym: "chambered heart" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "vertebrate heart" EXACT [] xref: AAO:0010210 xref: BILA:0000020 xref: BTO:0000562 xref: CALOHA:TS-0445 xref: EFO:0000815 xref: EHDAA2:0000738 xref: EHDAA:420 xref: EMAPA:16105 xref: EV:0100018 xref: FMA:7088 xref: GAID:174 xref: galen:Heart xref: MA:0000072 xref: MAT:0000036 xref: MESH:D006321 xref: MIAA:0000036 xref: NCIT:C12727 xref: SCTID:302509004 xref: TAO:0000114 xref: UMLS:C0018787 {source="ncithesaurus:Heart"} xref: VHOG:0000276 xref: Wikipedia:Heart xref: XAO:0000064 xref: ZFA:0000114 is_a: UBERON:0000061 ! anatomical structure relationship: never_in_taxon NCBITaxon:6239 ! Caenorhabditis elegans relationship: never_in_taxon NCBITaxon:7227 ! Drosophila melanogaster relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0000915 ! thoracic segment of trunk relationship: part_of UBERON:0001009 ! circulatory system relationship: part_of UBERON:0002100 ! trunk property_value: axiom_lost_from_external_ontology "relationship type change: differentiates_from lateral plate mesoderm (AAO:0010574) CHANGED TO: develops_from lateral plate mesoderm (UBERON:0003081)[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010210", ontology="AAO"} property_value: external_definition "Blood pumping organ composed of four chambers: sinus venosus, atrium, cardiac ventricle and bulbus arteriosus.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000114", ontology="TAO", source="ZFIN:curator"} property_value: external_definition "Part of the circulatory system responsible for pumping blood; composed of three chambers--two atria and one ventricle.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010210", ontology="AAO", source="AAO:BJB"} property_value: has_relational_adjective "cardiac" xsd:string property_value: homology_notes "As noted, the hearts of birds and mammals have four chambers that arises from the two chambers (atrium and ventricle) of the fish heart.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000276", ontology="VHOG", source="ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.481", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0000949 name: endocrine system namespace: uberon def: "Anatomical system that consists of the glands and parts of glands that produce endocrine secretions and help to integrate and control bodily metabolic activity." [NLM:endocrine+system, Wikipedia:Endocrine_system] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "endocrine glandular system" EXACT [EHDAA2:0002224] synonym: "endocrine system" EXACT [] synonym: "systema endocrinum" EXACT [] xref: AAO:0010279 xref: CALOHA:TS-1301 xref: EFO:0002969 xref: EHDAA2:0002224 xref: EMAPA:35306 xref: EV:0100128 xref: FBbt:00005068 xref: FMA:9668 xref: GAID:439 xref: MA:0000012 xref: MESH:D004703 xref: NCIT:C12705 xref: SCTID:278876000 xref: TAO:0001158 xref: UMLS:C0014136 {source="ncithesaurus:Endocrine_System"} xref: VHOG:0000098 xref: Wikipedia:Endocrine_system xref: XAO:0000158 xref: ZFA:0001158 is_a: UBERON:0001062 ! anatomical entity disjoint_from: UBERON:0000990 ! reproductive system disjoint_from: UBERON:0001004 ! respiratory system disjoint_from: UBERON:0001007 ! digestive system disjoint_from: UBERON:0001009 ! circulatory system disjoint_from: UBERON:0001016 ! nervous system disjoint_from: UBERON:0001033 ! gustatory system disjoint_from: UBERON:0001434 ! skeletal system disjoint_from: UBERON:0002204 ! musculoskeletal system disjoint_from: UBERON:0002294 ! biliary system disjoint_from: UBERON:0002390 ! hematopoietic system disjoint_from: UBERON:0002405 ! immune system disjoint_from: UBERON:0002416 ! integumental system disjoint_from: UBERON:0002423 ! hepatobiliary system property_value: external_definition "Anatomical system containing glands which regulates bodily functions though the secretion of hormones.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010279", ontology="AAO", source="AAO:BJB"} property_value: has_relational_adjective "endocrine" xsd:string property_value: homology_notes "Multicellular organisms have complex endocrine systems, allowing responses to environmental stimuli, regulation of development, reproduction, and homeostasis. Nuclear receptors (NRs), a metazoan-specific family of ligand-activated transcription factors, play central roles in endocrine responses, as intermediates between signaling molecules and target genes. The NR family includes ligand-bound and orphan receptors, that is, receptors with no known ligand or for which there is no ligand Pocket. Understanding NR evolution has been further improved by comparison of several completed genomes, particularly those of deuterostomes and ecdysozoans. In contrast, evolution of NR ligands is still much debated. One hypothesis proposes that several independent gains and losses of ligand-binding ability in NRs occurred in protostomes and deuterostomes. A second hypothesis, pertaining to the NR3 subfamily (vertebrate steroid hormone receptors and estrogen related receptor), proposes that before the divergence of protostomes and deuterostomes, there was an ancestral steroid receptor (AncSR) that was ligand-activated and that orphan receptors secondarily lost the ability to bind a ligand. (...) Our analysis reveals that steroidogenesis has been independently elaborated in the 3 main bilaterian lineages (...).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000098", ontology="VHOG", source="DOI:10.1073/pnas.0812138106 Markov GV, Tavares R, Dauphin-Villemant C, Demeneix BA, Baker ME, Laudet V, Independent elaboration of steroid hormone signaling pathways in metazoans. PNAS (2009)", source="http://bgee.unil.ch/"} [Term] id: UBERON:0000955 name: brain namespace: uberon def: "The brain is the center of the nervous system in all vertebrate, and most invertebrate, animals. Some primitive animals such as jellyfish and starfish have a decentralized nervous system without a brain, while sponges lack any nervous system at all. In vertebrates, the brain is located in the head, protected by the skull and close to the primary sensory apparatus of vision, hearing, balance, taste, and smell[WP]." [https://github.com/obophenotype/uberon/issues/300, Wikipedia:Brain] subset: cumbo subset: efo_slim subset: human_reference_atlas subset: major_organ subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "encephalon" RELATED [BTO:0000142] synonym: "suprasegmental levels of nervous system" RELATED [NeuroNames:21] synonym: "suprasegmental structures" RELATED [NeuroNames:21] synonym: "synganglion" RELATED [] synonym: "the brain" RELATED [NeuroNames:21] xref: AAO:0010478 xref: ABA:Brain xref: BAMS:Br xref: BAMS:Brain xref: BILA:0000135 xref: BIRNLEX:796 xref: BTO:0000142 xref: CALOHA:TS-0095 xref: DHBA:10155 xref: EFO:0000302 xref: EHDAA2:0000183 xref: EHDAA:2641 xref: EHDAA:6485 xref: EMAPA:16894 xref: EV:0100164 xref: FBbt:00005095 xref: FMA:50801 xref: GAID:571 xref: galen:Brain xref: HBA:4005 xref: MA:0000168 xref: MAT:0000098 xref: MBA:8 xref: MBA:997 xref: MESH:D001921 xref: MIAA:0000098 xref: NCIT:C12439 xref: neuronames:21 {source="BIRNLEX:796"} xref: PBA:3999 xref: SCTID:258335003 xref: TAO:0000008 xref: UMLS:C0006104 {source="ncithesaurus:Brain", source="BIRNLEX:796"} xref: UMLS:C1269537 {source="BIRNLEX:796"} xref: VHOG:0000157 xref: Wikipedia:Brain xref: XAO:0000010 xref: ZFA:0000008 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001017 ! central nervous system property_value: external_definition "Cavitated compound organ which is comprised of gray and white matter and surrounds the cerebral ventricular system.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000008", ontology="TAO", source="ZFIN:curator"} property_value: external_definition "Part of the central nervous system situated within the cranium and composed of both nerve cell bodies and nerve fibers.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010478", ontology="AAO", source="AAO:BJB"} property_value: external_definition "The part of the central nervous system contained within the cranium, comprising the forebrain, midbrain, hindbrain, and metencephalon. It is derived from the anterior part of the embryonic neural tube (or the encephalon). Does not include retina. (CUMBO)" xsd:string {source="http://neurolex.org/wiki/Cumbo_terms"} property_value: homology_notes "(...) at some stage of its development, every chordate exhibits five uniquely derived characters or synapomorphies of the group: (...) (4) a single, tubular nerve cord that is located dorsal to the notochord (...) (reference 1); The neural tube is destined to differentiate into the brain and spinal cord (the central nervous system) (reference 2).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000157", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.28, ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.165", source="http://bgee.unil.ch/"} property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/cmungall property_value: IAO:0000116 "requires review for applicability to invertebrate structures, e.g. synganglion" xsd:string property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0000956 name: cerebral cortex namespace: uberon def: "The thin layer of gray matter on the surface of the cerebral hemisphere that develops from the telencephalon. It consists of the neocortex (6 layered cortex or isocortex), the hippocampal formation and the olfactory cortex." [BIRNLEX:1494] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "brain cortex" RELATED [BTO:0000233] synonym: "cortex cerebralis" RELATED LATIN [NeuroNames:39] synonym: "cortex cerebri" RELATED LATIN [Wikipedia:Cerebral_cortex] synonym: "cortex of cerebral hemisphere" EXACT [BTO:0000233, FMA:61830] synonym: "cortical plate (areas)" RELATED [NeuroNames:39] synonym: "cortical plate (CTXpl)" RELATED [NeuroNames:39] synonym: "pallium of the brain" RELATED [BTO:0000233] xref: BAMS:C xref: BAMS:Cerebral_cortex xref: BAMS:CTX xref: BAMS:Cx xref: BIRNLEX:1494 xref: BM:Tel-Cx xref: BTO:0000233 xref: CALOHA:TS-0091 xref: DHBA:10159 xref: EFO:0000328 xref: EHDAA2:0000234 xref: EHDAA:5464 xref: EMAPA:17544 xref: EV:0100166 xref: FMA:61830 xref: GAID:629 xref: HBA:4008 xref: MA:0000185 xref: MAT:0000108 xref: MBA:688 xref: MESH:D002540 xref: MIAA:0000108 xref: NCIT:C12443 xref: neuronames:39 {source="BIRNLEX:1494"} xref: PBA:128011354 xref: SCTID:362880003 xref: UMLS:C0007776 {source="ncithesaurus:Cortex", source="BIRNLEX:1494"} xref: VHOG:0000722 xref: Wikipedia:Cerebral_cortex is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000203 ! pallium relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0001017 ! central nervous system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/7/7b/Cerebral_Cortex_location.jpg xsd:anyURI property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/9/9a/Brainmaps-macaque-hippocampus.jpg xsd:anyURI property_value: external_definition "The cerebral cortex is a structure within the brain that plays a key role in memory, attention, perceptual awareness, thought, language, and consciousness. It constitutes the outermost layer of the cerebrum. In preserved brains, it has a grey color, hence the name 'grey matter'. Grey matter is formed by neurons and their unmyelinated fibers, whereas the white matter below the grey matter of the cortex is formed predominantly by myelinated axons interconnecting different regions of the central nervous system. The human cerebral cortex is 2-4 mm (0.08-0.16 inches) thick. The surface of the cerebral cortex is folded in large mammals, such that more than two-thirds of the cortical surface is buried in the grooves, called 'sulci. ' The phylogenetically most recent part of the cerebral cortex, the neocortex, also called isocortex, is differentiated into six horizontal layers; the more ancient part of the cerebral cortex, the hippocampus (also called archicortex), has at most three cellular layers, and is divided into subfields. Relative variations in thickness or cell type (among other parameters) allow us to distinguish between different neocortical architectonic fields. The geometry of at least some of these fields seems to be related to the anatomy of the cortical folds, and, for example, layers in the upper part of the cortical ridges seem to be more clearly differentiated than in its deeper parts. [WP,unvetted][Wikipedia:Cerebral_cortex]." xsd:string {source="Wikipedia:Cerebral_cortex"} property_value: homology_notes "Migration of neurons from the basal or striatal portions of the anterior part of the neural tube occurs to varying degrees in different vertebrate classes, but a true cerebral cortex is generally acknowledged to have made its first appearance in reptiles. The definition can be unambiguous, since 'cortex' simply implies the existence of a surface neuronal layer with an overlying 'zonal lamina' or 'molecular' layer containing dendrites and axons, which is separated from the underlying basal 'matrix' by white matter. Although reptilian cerebral cortex does indeed fulfill these conditions in certain locations, the separation from striatal structures is often indistinct, so that it may even be argued that some primitive dipnoans possess a pallium or cortex. Nevertheless, an extensive laminated layer separated by underlying white matter is well represented only in reptiles and mammals.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000722", ontology="VHOG", source="DOI:10.1111/j.1749-6632.1969.tb20437.x Kruger L, Experimental analyses of the reptilian nervous system. Annals of the New York Academy of Sciences (1969)", source="http://bgee.unil.ch/"} property_value: IAO:0000232 "We follow NIFSTD in defining cerebral cortex and including both neocortex and hippocampal formation (DG+hippocampus)." xsd:string property_value: RO:0002175 NCBITaxon:117569 property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "hagfishes have independently evolved a highly laminated cerebral cortex, comparable in many ways to the cerebral cortex of mammals [http://icb.oxfordjournals.org/content/42/4/743]" xsd:string [Term] id: UBERON:0000964 name: cornea namespace: uberon def: "The transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure." [ISBN:0-683-40008-8, MESH:A09.371.060.217, MP:0001312] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "cornea of camera-type eye" EXACT [GO:0061303] synonym: "corneas" RELATED PLURAL [ZFA:0000640] synonym: "tunica cornea" RELATED [] xref: AAO:0010344 xref: BTO:0000286 xref: CALOHA:TS-0171 xref: EFO:0000377 xref: EHDAA2:0000316 xref: EHDAA:10199 xref: EMAPA:17161 xref: EV:0100341 xref: FMA:58238 xref: GAID:892 xref: MA:0000266 xref: MESH:D003315 xref: NCIT:C12342 xref: SCTID:181162001 xref: TAO:0000640 xref: UMLS:C0010031 {source="ncithesaurus:Cornea"} xref: VHOG:0000164 xref: Wikipedia:Cornea xref: XAO:0000180 xref: ZFA:0000640 is_a: UBERON:0000061 ! anatomical structure property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/1/1e/Schematic_diagram_of_the_human_eye_en.svg xsd:anyURI property_value: has_relational_adjective "corneal" xsd:string property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "Compared to terrestial animals, the cornea of zebrafish is relatively flat. It consists of nonpigmented, stratified squamous nonkeratinizing epithelial cells, attached to a thick basement membrane that is considered to be analogous to the Bowman's membrane in mammals. In fish, and aquatic vertebrates in general, the cornea plays no role in focusing light, since it has virtually the same refractive index as water" xsd:string [Term] id: UBERON:0000965 name: lens of camera-type eye namespace: uberon def: "A transparent and refractive lens located posterior to the iris. The lens of camera-type eye refracts light to be focused on the retina." [http://orcid.org/0000-0002-6601-2165, Wikipedia:Lens_(anatomy)] comment: The lens is avascular and nourished by diffusion from the aqueous and vitreous humors. subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "camera-type eye lens" EXACT [GO:0002088] synonym: "crystalline lens" RELATED [BTO:0000723, PMID:36055924] synonym: "eye lens" EXACT SENSU [] synonym: "lens" EXACT SENSU [] synonym: "lens crystallina" EXACT [Wikipedia:Lens_(anatomy)] synonym: "lenses" RELATED PLURAL [ZFA:0000035] synonym: "ocular lens" RELATED [BTO:0000723] xref: AAO:0010348 xref: BTO:0000723 xref: CALOHA:TS-0545 xref: EHDAA:9057 xref: EMAPA:17838 xref: EV:0100343 xref: FMA:58241 xref: MA:0000275 xref: MAT:0000141 xref: MESH:D007908 xref: MIAA:0000141 xref: NCIT:C12743 xref: RETIRED_EHDAA2:0000975 xref: SCTID:181169005 xref: TAO:0000035 xref: UMLS:C0023317 {source="ncithesaurus:Crystalline_Lens"} xref: VHOG:0000169 xref: Wikipedia:Lens_(anatomy) xref: XAO:0000008 xref: ZFA:0000035 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000970 ! eye property_value: homology_notes "The eye of the adult lamprey is remarkably similar to our own, and it possesses numerous features (including the expression of opsin genes) that are very similar to those of the eyes of jawed vertebrates. The lamprey's camera-like eye has a lens, an iris and extra-ocular muscles (five of them, unlike the eyes of jawed vertebrates, which have six), although it lacks intra-ocular muscles. Its retina also has a structure very similar to that of the retinas of other vertebrates, with three nuclear layers comprised of the cell bodies of photoreceptors and bipolar, horizontal, amacrine and ganglion cells. The southern hemisphere lamprey, Geotria australis, possesses five morphological classes of retinal photoreceptor and five classes of opsin, each of which is closely related to the opsins of jawed vertebrates. Given these similarities, we reach the inescapable conclusion that the last common ancestor of jawless and jawed vertebrates already possessed an eye that was comparable to that of extant lampreys and gnathostomes. Accordingly, a vertebrate camera-like eye must have been present by the time that lampreys and gnathostomes diverged, around 500 Mya.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000169", ontology="VHOG", source="DOI:10.1038/nrn2283 Lamb TD, Collin SP and Pugh EN Jr, Evolution of the vertebrate eye: opsins, photoreceptors, retina and eye cup. Nature Reviews Neuroscience (2007)", source="http://bgee.unil.ch/"} property_value: RO:0002171 UBERON:0002049 property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "This class excludes compound eye corneal lenses." xsd:string [Term] id: UBERON:0000966 name: retina namespace: uberon def: "The retina is the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates." [Wikipedia:Retina, ZFIN:curator] comment: Currently this class encompasses only verteberate AOs but could in theory also include cephalopod - we may want to make a more specific class for vertebrate retina. note that this class excludes ommatidial retinas, as the retina must be part of an eyeball. Use the parent class photoreceptor array / light-sensitive tissue for arthropods subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "inner layer of eyeball" EXACT [] synonym: "Netzhaut" RELATED [BTO:0001175] synonym: "retina of camera-type eye" EXACT [GO:0060041] synonym: "retinas" RELATED PLURAL [ZFA:0000152] synonym: "tunica interna of eyeball" EXACT [] xref: AAO:0010352 xref: BAMS:R xref: BIRNLEX:1153 xref: BTO:0001175 xref: CALOHA:TS-0865 xref: EFO:0000832 xref: EHDAA2:0001627 xref: EHDAA:4757 xref: EMAPA:17168 xref: EV:0100348 xref: FMA:58301 xref: GAID:755 xref: MA:0000276 xref: MAT:0000142 xref: MBA:304325711 xref: MESH:D012160 xref: MIAA:0000142 xref: NCIT:C12343 xref: neuronames:1862 xref: NIFSTD_RETIRED:birnlex_1156 xref: SCTID:181171005 xref: TAO:0000152 xref: UMLS:C0035298 {source="BIRNLEX:1153", source="ncithesaurus:Retina"} xref: UMLS:C1278894 {source="BIRNLEX:1153"} xref: VHOG:0000229 xref: Wikipedia:Retina xref: XAO:0000009 xref: ZFA:0000152 is_a: UBERON:0000061 ! anatomical structure relationship: never_in_taxon NCBITaxon:6656 ! Arthropoda relationship: part_of UBERON:0000970 ! eye relationship: part_of UBERON:0001016 ! nervous system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/e/ed/Human_eye_cross-sectional_view_grayscale.png xsd:anyURI property_value: external_definition "The portion of the eye developing from the optic primordium and including the neural retina and the retinal pigment layer. Kimmel et al, 1995.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000152", ontology="TAO", source="ZFIN:curator"} property_value: has_relational_adjective "retinal" xsd:string property_value: homology_notes "The eye of the adult lamprey is remarkably similar to our own, and it possesses numerous features (including the expression of opsin genes) that are very similar to those of the eyes of jawed vertebrates. The lamprey's camera-like eye has a lens, an iris and extra-ocular muscles (five of them, unlike the eyes of jawed vertebrates, which have six), although it lacks intra-ocular muscles. Its retina also has a structure very similar to that of the retinas of other vertebrates, with three nuclear layers comprised of the cell bodies of photoreceptors and bipolar, horizontal, amacrine and ganglion cells. The southern hemisphere lamprey, Geotria australis, possesses five morphological classes of retinal photoreceptor and five classes of opsin, each of which is closely related to the opsins of jawed vertebrates. Given these similarities, we reach the inescapable conclusion that the last common ancestor of jawless and jawed vertebrates already possessed an eye that was comparable to that of extant lampreys and gnathostomes. Accordingly, a vertebrate camera-like eye must have been present by the time that lampreys and gnathostomes diverged, around 500 Mya.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000229", ontology="VHOG", source="DOI:10.1038/nrn2283 Lamb TD, Collin SP and Pugh EN Jr, Evolution of the vertebrate eye: opsins, photoreceptors, retina and eye cup. Nature Reviews Neuroscience (2007)", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0000970 name: eye namespace: uberon def: "An organ that detects light." [https://orcid.org/0000-0002-6601-2165] subset: efo_slim subset: functional_classification subset: human_reference_atlas subset: major_organ subset: organ_slim subset: uberon_slim synonym: "light-detecting organ" RELATED [] synonym: "visual apparatus" RELATED [EV:0100336] xref: BILA:0000017 xref: BTO:0000439 xref: CALOHA:TS-0309 xref: EFO:0000827 xref: EV:0100336 xref: FBbt:00005162 xref: GAID:69 xref: MAT:0000140 xref: MESH:D005123 xref: MIAA:0000140 xref: Wikipedia:Eye is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001032 ! sensory system property_value: has_relational_adjective "ocular" xsd:string property_value: has_relational_adjective "optic" xsd:string property_value: IAO:0000232 "This class encompasses a variety of light-detecting structures from different phyla with no implication of homology, from the compound insect eye to the vertebrate camera-type eye (distinct classes are provided for each)" xsd:string property_value: RO:0002175 NCBITaxon:9606 property_value: UBPROP:0000010 "Note that whilst this is classified as an organ, it is in fact more of a unit composed of different structures: in Drosophila, it includes the interommatidial bristle as a part; we consider here the vertebrate eye to include the eyeball/eye proper as a part, with the eye having as parts (when present): eyelids, conjuctiva," xsd:string [Term] id: UBERON:0000972 name: antenna namespace: uberon def: "The paired, usually multiple jointed, sensory organs articulating on the procephalic region of the head capsule; its highly versatile sensory structures are capable to detect the various environmental stimuli. In the context of Drosophila refers to they are the most anterior segmented sensory appendage of the head." [FB:gg, ISBN:3110148986, Wikipedia:Antenna_(biology)] subset: efo_slim subset: uberon_slim synonym: "feeler" RELATED [BTO:0000074] xref: AEO:0000198 xref: BTO:0000074 xref: EFO:0000874 xref: FBbt:00004511 xref: HAO:0000101 xref: MAT:0000086 xref: MIAA:0000086 xref: TGMA:0000007 xref: Wikipedia:Antenna_(biology) is_a: UBERON:0000026 ! appendage relationship: never_in_taxon NCBITaxon:6843 relationship: part_of UBERON:0000033 ! head property_value: has_relational_adjective "antennal" xsd:string property_value: has_relational_adjective "antenno" xsd:string property_value: IAO:0000116 "this term should be ceded to the arthropod anatomy ontology" xsd:string [Term] id: UBERON:0000974 name: neck namespace: uberon def: "An organism subdivision that extends from the head to the pectoral girdle, encompassing the cervical vertebral column." [http://orcid.org/0000-0002-6601-2165] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "collum" RELATED LATIN [Wikipedia:Neck] synonym: "neck (volume)" RELATED [FMA:7155] xref: AEO:0000108 xref: BTO:0000420 xref: CALOHA:TS-2045 xref: EFO:0000967 xref: EHDAA2:0003108 xref: EMAPA:35587 xref: FMA:7155 xref: GAID:86 xref: galen:Neck xref: MA:0000024 xref: MAT:0000297 xref: MESH:D009333 xref: MIAA:0000297 xref: NCIT:C13063 xref: SCTID:302550007 xref: UMLS:C0027530 {source="ncithesaurus:Neck"} xref: Wikipedia:Neck is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000468 ! multicellular organism relationship: RO:0002174 NCBITaxon:32443 {source="ISBN:9780674021839"} ! dubious_for_taxon property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/9/99/Female_neck.jpg xsd:anyURI property_value: has_relational_adjective "cervical" xsd:string property_value: IAO:0000232 "true necks are considered to be present when the pectoral girdle is separate from the skull - Tiktaalik is the earliest known fish to have a true neck." xsd:string [Term] id: UBERON:0000976 name: humerus namespace: uberon def: "Paired endochondral long bone that extends between the pectoral girdle and the skeletal parts of the forelimb. [PHENOSCAPE:mah]." [AAO:0000679, https://github.com/obophenotype/uberon/issues/106, PHENOSCAPE:mah] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "humeri" EXACT PLURAL [PHENOSCAPE:ad] synonym: "humerus bone" EXACT [] synonym: "mesomere 1 of pectoral appendage" RELATED HOMOLOGY [ISBN:0226313409] synonym: "proximal metapterygial mesomere of pectoral appendage" RELATED HOMOLOGY [ISBN:0226313409] synonym: "proximal metapterygial mesomere of pectoral fin" RELATED HOMOLOGY [ISBN:0226313409] xref: AAO:0000679 xref: CALOHA:TS-2202 xref: EFO:0001398 xref: EMAPA:19106 xref: FMA:13303 xref: GAID:183 xref: galen:Humerus xref: MA:0001356 xref: MESH:D006811 xref: NCIT:C12731 xref: SCTID:181923006 xref: UMLS:C0020164 {source="ncithesaurus:Humerus"} xref: VHOG:0001158 xref: Wikipedia:Humerus xref: XAO:0003210 is_a: UBERON:0002428 ! limb bone relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001434 ! skeletal system relationship: part_of UBERON:0001460 ! arm relationship: part_of UBERON:0002091 ! appendicular skeleton relationship: part_of UBERON:0002101 ! limb relationship: part_of UBERON:0002102 ! forelimb property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/6/67/Illu_upper_extremity.jpg xsd:anyURI property_value: external_definition "Paired, elongate, cylindrical bones of endochondral origin that extend from the pectoral girdle to the elbows.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000679", ontology="AAO", source="AAO:LAP"} property_value: has_relational_adjective "humeral" xsd:string property_value: homology_notes "Most anatomists now agree that the three proximal bones of the tetrapod limbs are homologous to the two or three proximal elements of the paired fin skeleton of other sarcopterygians, that is the humerus-femur, radius-tibia, and ulna-fibula.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001158", ontology="VHOG", source="ISBN:978-0198540472 Janvier P, Early vertebrates (1996) p.268", source="http://bgee.unil.ch/"} property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/cmungall property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/mellybelly property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0000977 name: pleura namespace: uberon def: "The invaginated serous membrane that surrounds the lungs (the visceral portion) and lines the walls of the pleural cavity (parietal portion)." [https://github.com/obophenotype/uberon/issues/1231, ISBN:0-683-40008-8, MP:0010820, UBERON:cjm, Wikipedia:Pulmonary_pleurae] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "pleura" RELATED [] synonym: "pleural tissue" RELATED [BTO:0001791, NCIT:C12469] synonym: "wall of pleural sac" EXACT [] xref: BTO:0001791 xref: CALOHA:TS-2081 xref: EFO:0001980 xref: EMAPA:16775 xref: EV:0100044 xref: FMA:9583 xref: GAID:360 xref: MA:0000433 xref: MESH:D010994 xref: NCIT:C12469 xref: SCTID:181609007 xref: UMLS:C0032225 {source="ncithesaurus:Pleural_Tissue"} xref: VHOG:0000394 xref: Wikipedia:Pleura is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0001004 ! respiratory system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/a/ab/Gray965.png xsd:anyURI property_value: external_definition "The serous membrane that covers the lungs and lines the pleural cavity. [Kaufman_MH_and_Bard_JBL, The_anatomical_basis_of_mouse_development_(1999)_San_Diego:_Academic_Press, p.264][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000394", ontology="VHOG", source="ISBN:0124020607", source="http://bgee.unil.ch/"} property_value: has_relational_adjective "pleural" xsd:string property_value: RO:0002175 NCBITaxon:8782 {source="ISBN:978-0030223693", source="https://orcid.org/0000-0003-3308-6245"} property_value: UBPROP:0000012 "In MA, is_a cavity lining (which we equate to parietal). In FMA, is_a (viscous) serous membrane (which includes mesothelium plus connective tissue). Note the MA structure should probably be associated with the mesothelium of pleura in FMA. JB/EHDAA2 argues the term 'pleura' is best used for the mesothelial lining (thus excluding connective tissue). See https://github.com/obophenotype/uberon/issues/86" xsd:string [Term] id: UBERON:0000978 name: leg namespace: uberon def: "The portion of the hindlimb that contains both the stylopod and zeugopod." [Wikipedia:Leg#Limb] comment: we use the less open to misinterpretation 'hindlimb zeugopod'. Editor note: currently declared as overlapping foot, as AOs disagree over whether some ankle parts are in the leg or foot subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "lower extremity" RELATED [MESH:A01.378.610] synonym: "tetrapod leg" EXACT [] xref: BTO:0000721 xref: CALOHA:TS-2206 xref: EFO:0001411 xref: EHDAA2:0000972 xref: EHDAA:5151 xref: EHDAA:6176 xref: EHDAA:8289 xref: EMAPA:17489 xref: GAID:49 xref: MA:0000047 xref: MESH:D035002 xref: VHOG:0000345 xref: Wikipedia:Leg#Limb is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000026 ! appendage relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0002101 ! limb relationship: part_of UBERON:0002103 ! hindlimb property_value: homology_notes "Most anatomists now agree that the three proximal bones of the tetrapod limbs are homologous to the two or three proximal elements of the paired fin skeleton of other sarcopterygians, that is the humerus-femur, radius-tibia, and ulna-fibula.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000345", ontology="VHOG", source="ISBN:978-0198540472 Janvier P, Early vertebrates (1996) p.268", source="http://bgee.unil.ch/"} property_value: UBPROP:0000013 "The term leg can mean: [1] an appendage on which an animal walks [2] the entire hindlimb of a tetrapod [3] the segment of a human leg between knee and ankle (cf FMA) [4] the region of a hindlimb include the stylopod and zeugopod, but excluding the autopod. We define this class as [4], and thus 'leg' is compltely analagous to 'arm'. For [1], see the class 'locomotive weight-bearing appendage'. For [2] we use 'hindlimb'. For" xsd:string {source="3"} [Term] id: UBERON:0000979 name: tibia namespace: uberon def: "The major preaxial endochondral bone in the posterior zeugopod[Phenoscape]." [PHENOSCAPE:mah] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "shankbone" EXACT [Wikipedia:Tibia] synonym: "shinbone" EXACT [Wikipedia:Tibia] xref: AAO:0000890 xref: BTO:0001252 xref: CALOHA:TS-1048 xref: EFO:0003054 xref: EMAPA:19142 xref: FMA:24476 xref: GAID:204 xref: galen:Tibia xref: MA:0001361 xref: MESH:D013977 xref: NCIT:C12800 xref: SCTID:182061009 xref: UMLS:C0040184 {source="ncithesaurus:Tibia"} xref: Wikipedia:Tibia is_a: UBERON:0003464 ! hindlimb bone relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0000978 ! leg relationship: part_of UBERON:0001434 ! skeletal system relationship: part_of UBERON:0002091 ! appendicular skeleton relationship: part_of UBERON:0002101 ! limb relationship: part_of UBERON:0002103 ! hindlimb property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/2/2a/Gray260.png xsd:anyURI property_value: external_definition "One of the two long bones of endochondral origin of the hind-epipodium; it is a straight, simple bone whose section is more or less rectangular at the ends and circular at its central portion.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000890", ontology="AAO", source="AAO:LAP"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0000980 name: trochanter namespace: uberon def: "A bony prominence near the extremity of the femur that normally serves as attachment points for hip and thigh muscles[MP,modified]." [MP:0004627] subset: pheno_slim subset: uberon_slim synonym: "femoral trochanter" EXACT [AAO:0000897] synonym: "trochanter of femur" EXACT [] xref: AAO:0000897 xref: FMA:82513 xref: MA:0002821 xref: NCIT:C33814 xref: SCTID:182047004 xref: UMLS:C0162370 {source="ncithesaurus:Trochanter"} xref: Wikipedia:Trochanter is_a: EFO:0003858 ! skeleton structure relationship: part_of UBERON:0000981 ! femur relationship: part_of UBERON:0001474 ! bone element property_value: external_definition "Process on the ventral surface of the shaft of the femur.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000897", ontology="AAO", source="AAO:LAP"} property_value: taxon_notes "there are two in human (greater and lesser trochanters) and three in many other mammalian species (greater, lesser and third)" xsd:string {source="MP"} [Term] id: UBERON:0000981 name: femur namespace: uberon def: "Endochondral longbone connecting the pelvic girdle with posterior zeugopodium skeleton.[VSAO, modified]." [VSAO:0000186, Wikipedia:Femur] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "femoral bone" RELATED [BTO:0001284] synonym: "mesomere 1 of pevlic appendage" RELATED HOMOLOGY [ISBN:0226313409] synonym: "os femorale" RELATED LATIN [BTO:0001284] synonym: "os femoris" RELATED LATIN [BTO:0001284] synonym: "os longissimum" RELATED LATIN [Wikipedia:Femur] synonym: "proximal metapterygial mesomere of pelvic appendage" RELATED HOMOLOGY [ISBN:0226313409] synonym: "proximal metapterygial mesomere of pelvic fin" RELATED HOMOLOGY [ISBN:0226313409] synonym: "thigh bone" EXACT [] xref: AAO:0000887 xref: AAO:0000889 xref: BTO:0001284 xref: CALOHA:TS-0322 xref: EFO:0001396 xref: EMAPA:19143 xref: FMA:9611 xref: GAID:199 xref: galen:Femur xref: MA:0001359 xref: MESH:D005269 xref: NCIT:C12717 xref: SCTID:182046008 xref: UMLS:C0015811 {source="ncithesaurus:Femur"} xref: VHOG:0001159 xref: VSAO:0000186 xref: Wikipedia:Femur xref: XAO:0003214 is_a: UBERON:0003464 ! hindlimb bone relationship: part_of UBERON:0000376 ! hindlimb stylopod relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0000978 ! leg relationship: part_of UBERON:0001434 ! skeletal system relationship: part_of UBERON:0002091 ! appendicular skeleton relationship: part_of UBERON:0002101 ! limb relationship: part_of UBERON:0002103 ! hindlimb property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/7/73/Gray252.png xsd:anyURI property_value: external_definition "Endochondral longbone connecting the pelvic girdle with posterior zeugopodium.[VSAO]" xsd:string {date_retrieved="2012-08-14", external_class="VSAO:0000186", ontology="VSAO", source="VSAO:NI"} property_value: external_definition "Paired, elongate, cylindrical bones of endochondral origin that form the thighs, extending from the pelvic girdles to the knees.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000889", ontology="AAO", source="AAO:LAP"} property_value: has_relational_adjective "femoral" xsd:string property_value: homology_notes "Most anatomists now agree that the three proximal bones of the tetrapod limbs are homologous to the two or three proximal elements of the paired fin skeleton of other sarcopterygians, that is the humerus-femur, radius-tibia, and ulna-fibula.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001159", ontology="VHOG", source="ISBN:978-0198540472 Janvier P, Early vertebrates (1996) p.268", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0000982 name: skeletal joint namespace: uberon def: "Anatomical structure that consists of two or more adjacent skeletal structures, which may be interconnected by various types of tissue[VSAO]." [GO_REF:0000034, http://dx.plos.org/10.1371/journal.pone.0051070, VSAO:0000101, Wikipedia:Joint] subset: efo_slim subset: organ_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "articular joint" RELATED [BTO:0001686] synonym: "articulation" BROAD [VSAO:0000101] synonym: "joint" BROAD [FMA:7490, VSAO:0000101] synonym: "joints" RELATED PLURAL [ZFA:0001596] xref: AEO:0000182 xref: BTO:0001686 xref: CALOHA:TS-2023 xref: EFO:0000948 xref: EMAPA:35456 xref: FMA:7490 xref: GAID:102 xref: galen:Joint xref: MA:0000319 xref: MAT:0000188 xref: MESH:D007596 xref: MIAA:0000188 xref: NCIT:C13044 xref: RETIRED_EHDAA2:0003182 xref: SCTID:302536002 xref: TAO:0000367 xref: UMLS:C0022417 {source="ncithesaurus:Joint"} xref: VHOG:0001276 xref: VSAO:0000101 xref: Wikipedia:Joint xref: XAO:0000171 xref: ZFA:0001596 is_a: UBERON:0004905 ! articulation disjoint_from: UBERON:0001474 ! bone element relationship: part_of UBERON:0004770 ! articular system property_value: external_definition "Anatomical cluster that consists of two or more adjacent bones or cartilages, which may be interconnected by various types of tissue.[VSAO]" xsd:string {date_retrieved="2012-08-14", external_class="VSAO:0000101", ontology="VSAO", source="PSPUB:0000170"} property_value: external_definition "Anatomical cluster which consists of two or more adjacent bones or cartilages, which may be interconnected by various types of tissue.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000367", ontology="TAO", source="TAO:pem"} [Term] id: UBERON:0000987 name: haltere namespace: uberon def: "The capitate stalk on both sides of the thorax having developed from the dorsal metathoracic wing-buds, it is freely movable and capable of vibration, representing the hind wing of Diptera; used for flight balance." [FB:gg, ISBN:3110148986, Wikipedia:Haltere] subset: efo_slim subset: uberon_slim synonym: "balancer organ" RELATED [] xref: EFO:0000886 xref: FBbt:00004783 xref: MAT:0000203 xref: MIAA:0000203 xref: Wikipedia:Haltere is_a: UBERON:0000026 ! appendage relationship: part_of UBERON:0000914 ! organismal segment property_value: IAO:0000116 "this term should be ceded to the arthropod anatomy ontology" xsd:string [Term] id: UBERON:0000988 name: pons namespace: uberon def: "The part of the central nervous system lying between the medulla oblongata and the midbrain, ventral to the cerebellum." [VHOG:0001176] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "pons cerebri" RELATED LATIN [NeuroNames:547] synonym: "pons of Varolius" EXACT [] synonym: "pons Varolii" EXACT [ncithesaurus:Pons_Varolii] xref: BAMS:PONS xref: BAMS:Pons xref: BIRNLEX:733 xref: BM:Pons xref: BTO:0001101 xref: CALOHA:TS-0813 xref: DHBA:10661 xref: EFO:0001394 xref: EHDAA2:0004394 xref: EMAPA:17563 xref: EV:0100253 xref: FMA:67943 xref: GAID:578 xref: HBA:9131 xref: MA:0000204 xref: MAT:0000115 xref: MBA:771 xref: MESH:D011149 xref: MIAA:0000115 xref: NCIT:C12511 xref: neuronames:547 {source="BIRNLEX:733"} xref: SCTID:279103004 xref: UMLS:C0032639 {source="BIRNLEX:733", source="ncithesaurus:Pons_Varolii"} xref: UMLS:C1280999 {source="BIRNLEX:733"} xref: VHOG:0001176 xref: Wikipedia:Pons is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0002298 ! brainstem relationship: RO:0002174 NCBITaxon:7955 ! dubious_for_taxon Danio rerio property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/3/36/Gray768.png xsd:anyURI property_value: external_definition "The part of the central nervous system lying between the medulla oblongata and the midbrain, ventral to the cerebellum. [TFD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001176", ontology="VHOG", source="http://bgee.unil.ch/", source="http://medical-dictionary.thefreedictionary.com/pons"} property_value: homology_notes "During the embryonic development of birds and mammals, neuroblasts migrate from the cerebellum into the ventral part of the rhombencephalon and differentiate into pontine and other nuclei, which relay information from between the cerebrum and cerebellum, and a conspicuous band of transverse fibers. This region is known as the pons. A pons does not differentiate in reptiles and anamniotes (...).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001176", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.474", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "The pons is not present in zebrafish. In this ontology we currently have some structures which are applicable to zebrafish appearing as parts of the pons. Currently we only include the weaker dubious_for_taxon relationship ubtil this is resolved" xsd:string property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0000989 name: penis namespace: uberon def: "An intromittent organ in certain biologically male organisms. In placental mammals, this also serves as the organ of urination." [http://orcid.org/0000-0002-6601-2165, ISBN:0-683-40008-8, MP:0005187, Wikipedia:Penis] subset: efo_slim subset: organ_slim subset: pheno_slim subset: uberon_slim synonym: "penes" RELATED PLURAL [] synonym: "phallus" RELATED [] xref: BTO:0000405 xref: CALOHA:TS-0758 xref: EFO:0000987 xref: EHDAA2:0001433 xref: EHDAA:9380 xref: EMAPA:18682 xref: EMAPA_RETIRED:18996 xref: EV:0100107 xref: FMA:9707 xref: GAID:389 xref: galen:Penis xref: MA:0000408 xref: MAT:0000186 xref: MESH:D010413 xref: MIAA:0000186 xref: NCIT:C12409 xref: SCTID:265793009 xref: UMLS:C0030851 {source="ncithesaurus:Penis"} xref: VHOG:0000727 xref: Wikipedia:Penis is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000079 ! male reproductive system relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0000990 ! reproductive system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/8/87/Labelled_flaccid_penis.jpg xsd:anyURI property_value: has_relational_adjective "penile" xsd:string property_value: has_relational_adjective "phallic" xsd:string property_value: taxon_notes "Most male birds (e.g., roosters and turkeys) have a cloaca (also present on the female), but not a penis. Among bird species with a penis are paleognathes (tinamous and ratites), Anatidae (ducks, geese and swans), and a very few other species (such as flamingoes). A bird penis is different in structure from mammal penises, being an erectile expansion of the cloacal wall and being erected by lymph, not blood. It is usually partially feathered and in some species features spines and brush-like filaments, and in flaccid state curls up inside the cloaca" xsd:string {source="WP"} [Term] id: UBERON:0000990 name: reproductive system namespace: uberon def: "Anatomical system that has as its parts the organs concerned with reproduction." [Wikipedia:Reproductive_system] subset: efo_slim subset: functional_classification subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "animal reproductive system" RELATED [BTO:0000081] synonym: "genital system" NARROW [] synonym: "genital tract" RELATED [] synonym: "genitalia" NARROW PLURAL [] synonym: "Geschlechtsorgan" RELATED [BTO:0000081] synonym: "organa genitalia" RELATED [BTO:0000081] synonym: "reproductive tissue" RELATED [BTO:0000081] synonym: "reproductive tract" RELATED [] synonym: "systemata genitalia" RELATED LATIN [Wikipedia:Reproductive_system] xref: AAO:0010258 xref: BILA:0000103 xref: BTO:0000081 xref: CALOHA:TS-1318 xref: EFO:0000809 xref: EHDAA2:0001603 xref: EHDAA:5923 xref: EMAPA:17381 xref: EV:0100100 xref: FBbt:00004857 xref: FMA:7160 xref: GAID:363 xref: HAO:0000374 xref: HAO:0000895 xref: MA:0000326 xref: MIAA:0000305 xref: NCIT:C12841 xref: SCTID:278875001 xref: TAO:0000632 xref: UMLS:C1261210 {source="ncithesaurus:Reproductive_System"} xref: VHOG:0000182 xref: WBbt:0005747 xref: Wikipedia:Reproductive_system xref: XAO:0000142 xref: ZFA:0000632 is_a: UBERON:0000467 ! anatomical system disjoint_from: UBERON:0001004 ! respiratory system disjoint_from: UBERON:0001007 ! digestive system disjoint_from: UBERON:0001009 ! circulatory system disjoint_from: UBERON:0001016 ! nervous system disjoint_from: UBERON:0001033 ! gustatory system disjoint_from: UBERON:0001434 ! skeletal system disjoint_from: UBERON:0002204 ! musculoskeletal system disjoint_from: UBERON:0002294 ! biliary system disjoint_from: UBERON:0002390 ! hematopoietic system disjoint_from: UBERON:0002405 ! immune system disjoint_from: UBERON:0002416 ! integumental system disjoint_from: UBERON:0002423 ! hepatobiliary system relationship: UBPROP:0000202 FMA:75572 ! fma_set_term property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/5/52/Penis.svg xsd:anyURI property_value: external_definition "Anatomical system which consists of organs and tissues associated with sexual reproduction of the organism.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010258", ontology="AAO", source="AAO:BJB"} property_value: homology_notes "Arguably, one of the most important aspects of urbilaterian organogenesis would have been gonadogenesis, since Urbilateria must have successfully generated gametes and developed a strategy for extrusion and fertilization, in order to be the ancestor of all living Bilateria.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000182", ontology="VHOG", source="PMID:21672850 Extavour CGM, Gray anatomy: phylogenetic patterns of somatic gonad structures and reproductive strategies across Bilateria. Integrative and Comparative Biology (2007)", source="http://bgee.unil.ch/"} property_value: http://purl.org/dc/terms/date 2022-06-10T18:22:34Z xsd:dateTime property_value: IAO:0000116 "consider splitting genitalia from reproductive system" xsd:string [Term] id: UBERON:0000991 name: gonad namespace: uberon def: "Reproductive organ that produces and releases eggs (ovary) or sperm (testis)." [ISBN:0140512888, Wikipedia:Gonad, ZFA:0000413, ZFIN:curator] subset: major_organ subset: organ_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "gonada" EXACT [] synonym: "gonads" RELATED PLURAL [ZFA:0000413] xref: AAO:0000213 xref: BILA:0000123 xref: BSA:0000079 xref: BTO:0000534 xref: EMAPA:17383 xref: FBbt:00004858 xref: FMA:18250 xref: GAID:368 xref: HAO:0000379 xref: MA:0002420 xref: MESH:D006066 xref: NCIT:C12725 xref: SCTID:304623008 xref: TAO:0000413 xref: UMLS:C0018067 {source="ncithesaurus:Gonad"} xref: VHOG:0000397 xref: WBbt:0005175 xref: Wikipedia:Gonad xref: XAO:0003146 xref: ZFA:0000413 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0000990 ! reproductive system property_value: external_definition "Anatomical structure which produces gametes as well as certain sex hormones controlled by the pituitary gonadotropins.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000213", ontology="AAO", source="AAO:BJB"} property_value: external_definition "The part of the reproductive system that produces and releases eggs (ovary) or sperm (testis).[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000413", ontology="TAO", source="ZFIN:curator"} property_value: has_relational_adjective "gonadal" xsd:string property_value: homology_notes "Examination of different vertebrate species shows that the adult gonad is remarkably similar in its morphology across different phylogenetic classes. Surprisingly, however, the cellular and molecular programs employed to create similar organs are not evolutionarily conserved.[uncertain][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000397", ontology="VHOG", source="DOI:10.1146/annurev.cellbio.042308.13350 DeFalco T, Capel B, Gonad morphogenesis in vertebrates: divergent means to a convergent end. Annual review of cell and developmental biology (2009)", source="http://bgee.unil.ch/"} property_value: UBPROP:0000012 "FMA xref is a 'general anatomical term'" xsd:string {external_ontology="FMA"} [Term] id: UBERON:0000992 name: ovary namespace: uberon def: "The gonad of a female organism which contains germ cells." [ISBN:0-683-40008-8, MP:0001126, Wikipedia:Ovary] subset: efo_slim subset: human_reference_atlas subset: organ_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "animal ovary" EXACT [EFO:0000973] synonym: "female gonad" EXACT [] synonym: "female organism genitalia gonad" EXACT [OBOL:automatic] synonym: "female organism genitalia gonada" EXACT [OBOL:automatic] synonym: "female organism reproductive system gonad" EXACT [OBOL:automatic] synonym: "female organism reproductive system gonada" EXACT [OBOL:automatic] synonym: "female reproductive system gonad" EXACT [OBOL:automatic] synonym: "female reproductive system gonada" EXACT [OBOL:automatic] synonym: "genitalia of female organism gonad" EXACT [OBOL:automatic] synonym: "genitalia of female organism gonada" EXACT [OBOL:automatic] synonym: "gonad of female organism genitalia" EXACT [OBOL:automatic] synonym: "gonad of female organism reproductive system" EXACT [OBOL:automatic] synonym: "gonad of female reproductive system" EXACT [OBOL:automatic] synonym: "gonad of genitalia of female organism" EXACT [OBOL:automatic] synonym: "gonad of reproductive system of female organism" EXACT [OBOL:automatic] synonym: "gonada of female organism genitalia" EXACT [OBOL:automatic] synonym: "gonada of female organism reproductive system" EXACT [OBOL:automatic] synonym: "gonada of female reproductive system" EXACT [OBOL:automatic] synonym: "gonada of genitalia of female organism" EXACT [OBOL:automatic] synonym: "gonada of reproductive system of female organism" EXACT [OBOL:automatic] synonym: "ovaries" RELATED PLURAL [] synonym: "ovarium" RELATED LATIN [Wikipedia:Ovary] synonym: "ovum-producing ovary" EXACT SENSU [GO:0061039] synonym: "reproductive system of female organism gonad" EXACT [OBOL:automatic] synonym: "reproductive system of female organism gonada" EXACT [OBOL:automatic] xref: AAO:0000371 xref: BILA:0000125 xref: BSA:0000080 xref: BTO:0000975 xref: CALOHA:TS-0730 xref: EFO:0000973 xref: EHDAA2:0001360 xref: EHDAA:8124 xref: EMAPA:17962 xref: EV:0100111 xref: FBbt:00004865 xref: FMA:7209 xref: GAID:367 xref: MA:0000384 xref: MESH:D010053 xref: MIAA:0000125 xref: NCIT:C12404 xref: SCTID:181464007 xref: TAO:0000403 xref: UMLS:C0029939 {source="ncithesaurus:Ovary"} xref: VHOG:0000251 xref: Wikipedia:Ovary xref: XAO:0000258 xref: ZFA:0000403 is_a: UBERON:0000991 ! gonad intersection_of: UBERON:0000991 ! gonad intersection_of: part_of UBERON:0000474 ! female reproductive system relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0000474 ! female reproductive system relationship: part_of UBERON:0000990 ! reproductive system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/d/d4/Gray589.png xsd:anyURI property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/c/cb/Female_anatomy.png xsd:anyURI property_value: external_definition "Either of paired female reproductive organs involved in production of ova and female sex hormones.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000371", ontology="AAO", source="AAO:BJB"} property_value: external_definition "Female reproductive organ.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000403", ontology="TAO", source="ZFIN:curator"} property_value: has_relational_adjective "ovarian" xsd:string property_value: homology_notes "(...) while it is likely that Urbilateria lacked a complex somatic reproductive system, it is at present impossible to speculate on whether or not it possessed a true gonad, let alone any other somatic adaptations for reproduction (reference 1); Examination of different vertebrate species shows that the adult gonad is remarkably similar in its morphology across different phylogenetic classes. Surprisingly, however, the cellular and molecular programs employed to create similar organs are not evolutionarily conserved (reference 2).[uncertain][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000251", ontology="VHOG", source="DOI:10.1093/icb/icm052 Extavour CGM, Gray anatomy: phylogenetic patterns of somatic gonad structures and reproductive strategies across the Bilateria. Integrative and Comparative Biology (2007), DOI:10.1146/annurev.cellbio.042308.13350 DeFalco T and Capel B, Gonad morphogenesis in vertebrates: divergent means to a convergent end. Annual review of cell and developmental biology (2009)", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "Ovaries of some kind are found in the female reproductive system of many animals that employ sexual reproduction, including invertebrates. However, they develop in a very different way in most invertebrates than they do in vertebrates, and are not truly homologous. Many of the features found in human ovaries are common to all vertebrates, including the presence of follicular cells, tunica albuginea, and so on. However, many species produce a far greater number of eggs during their lifetime than do humans, so that, in fish and amphibians, there may be hundreds, or even millions of fertile eggs present in the ovary at any given time. In these species, fresh eggs may be developing from the germinal epithelium throughout life. Corpora lutea are found only in mammals, and in some elasmobranch fish; in other species, the remnants of the follicle are quickly resorbed by the ovary. In birds, reptiles, and monotremes, the egg is relatively large, filling the follicle, and distorting the shape of the ovary at maturity. Amphibians and reptiles have no ovarian medulla; the central part of the ovary is a hollow, lymph-filled space. The ovary of teleosts is also often hollow, but in this case, the eggs are shed into the cavity, which opens into the oviduct. Although most normal female vertebrates have two ovaries, this is not the case in all species. In birds and platypuses, the right ovary never matures, so that only the left is functional. In some elasmobranchs, the reverse is true, with only the right ovary fully developing. In the primitive jawless fish, and some teleosts, there is only one ovary, formed by the fusion of the paired organs in the embryo" xsd:string {source="WP"} [Term] id: UBERON:0000993 name: oviduct namespace: uberon def: "A tube or collection of tubes in an animal from the ovaries to the outside of the body." [http://orcid.org/0000-0002-6601-2165] subset: efo_slim subset: uberon_slim subset: vertebrate_core synonym: "female reproductive tracts" RELATED [http://orcid.org/0000-0002-6601-2165] synonym: "ovarian duct" EXACT [http://orcid.org/0000-0002-6601-2165] synonym: "ovarian tube" EXACT [http://orcid.org/0000-0002-6601-2165] synonym: "oviducts" RELATED PLURAL [ZFA:0000560] synonym: "tuba uterina" RELATED [BTO:0000980] synonym: "tuba uterinae" RELATED [BTO:0000980] synonym: "tubular parts of female reproductive system" RELATED [http://orcid.org/0000-0002-6601-2165] synonym: "uterine tube" EXACT [] xref: AAO:0010533 xref: BSA:0000083 xref: BTO:0000980 xref: EFO:0000974 xref: EMAPA:18984 xref: GAID:366 xref: MAT:0000126 xref: MESH:D010057 xref: MIAA:0000126 xref: NCIT:C77957 xref: TAO:0000560 xref: UMLS:C0029954 {source="ncithesaurus:Oviduct"} xref: VHOG:0001136 xref: Wikipedia:Oviduct xref: XAO:0003052 xref: ZFA:0000560 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000474 ! female reproductive system relationship: part_of UBERON:0000990 ! reproductive system property_value: external_definition "A passage through which ova leave the maternal body or pass to an organ communicating with the exterior of the body. [TFD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001136", ontology="VHOG", source="http://bgee.unil.ch/", source="http://medical-dictionary.thefreedictionary.com/oviduct"} property_value: homology_notes "In all remaining vertebrates (i.e., coelacanths, lungfishes, amphibians, reptiles, birds, and mammals), the oviduct arises in ontogeny as a longitudinal, groovelike invagination of the coelomic epithelium on the lateral surface of the mesonephros.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001136", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.687-688", source="http://bgee.unil.ch/"} property_value: IAO:0000232 "sometimes oviduct is used interchangeably with follaopian tube. Here they are different - the oviduct connects the gonad to the outside in a variety of animals. The mammal-class fallopian tube is derived from the mullerian duct and connects the gonads/infubdibulum to the uterus" xsd:string property_value: taxon_notes "in birds divided into infundibulum, magnum, isthmus, uterus, and vagina" xsd:string property_value: taxon_notes "The only female vertebrates to lack oviducts are the jawless fishes. In these species, the single fused ovary releases eggs directly into the body cavity. The fish eventually extrudes the eggs through small genital pores towards the rear of the body[WP]" xsd:string [Term] id: UBERON:0000994 name: spermathecum namespace: uberon def: "An organ of the female reproductive tract that functions to receive and store sperm from the male, and can sometimes be the site of fertilization when the oocytes are ready." [https://github.com/obophenotype/uberon/issues/1405, Wikipedia:Spermatheca] subset: dubious_grouping subset: efo_slim subset: uberon_slim synonym: "receptaculum seminis" RELATED [BTO:0001273] synonym: "seminal receptacle" RELATED [] synonym: "spermatheca" RELATED PLURAL [] synonym: "spermathecae" RELATED PLURAL [] xref: BTO:0001273 xref: EFO:0000977 xref: FBbt:00004921 xref: HAO:0000945 xref: MAT:0000168 xref: MIAA:0000168 xref: TGMA:0000560 xref: WBbt:0005319 xref: Wikipedia:Spermatheca is_a: UBERON:0000061 ! anatomical structure relationship: never_in_taxon NCBITaxon:314146 relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0000990 ! reproductive system relationship: part_of UBERON:0000991 ! gonad property_value: taxon_notes "Some species have multiple spermathecae, as seen in earthworms, where four pairs of spermathecae are present. One pair in 6,7,8 and 9 segments. They receive and store the spermatozoa of another earthworm during copulation" xsd:string [Term] id: UBERON:0000995 name: uterus namespace: uberon def: "The female muscular organ of gestation in which the developing embryo or fetus is nourished until birth." [MGI:csmith, MP:0001120] subset: efo_slim subset: human_reference_atlas subset: organ_slim subset: pheno_slim subset: uberon_slim xref: BTO:0001424 xref: CALOHA:TS-1102 xref: EFO:0000975 xref: EMAPA:29915 xref: EV:0100113 xref: FMA:17558 xref: GAID:172 xref: galen:Uterus xref: MA:0000389 xref: MAT:0000127 xref: MESH:D014599 xref: MIAA:0000127 xref: NCIT:C12405 xref: SCTID:181452004 xref: UMLS:C0042149 {source="ncithesaurus:Uterus"} xref: VHOG:0001137 xref: Wikipedia:Uterus is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000990 ! reproductive system relationship: part_of UBERON:0000993 ! oviduct property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/6/6a/Female_reproductive_system_lateral_nolabel.png xsd:anyURI property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/c/cb/Female_anatomy.png xsd:anyURI property_value: external_definition "The hollow muscular organ in female mammals in which the blastocyst normally becomes embedded and in which the developing embryo and fetus is nourished. Its cavity opens into the vagina below and into a uterine tube on either side. [TFD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001137", ontology="VHOG", source="http://bgee.unil.ch/", source="http://medical-dictionary.thefreedictionary.com/uterus"} property_value: has_relational_adjective "uterine" xsd:string property_value: homology_notes "An infundibulum, uterine tube, uterus, and vagina also differentiate along the oviducts of eutherian mammals.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001137", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.678", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "Most animals that lay eggs, such as birds and reptiles, have an oviduct instead of a uterus. In monotremes, mammals which lay eggs and include the platypus, either the term uterus or oviduct is used to describe the same organ, but the egg does not develop a placenta within the mother and thus does not receive further nourishment after formation and fertilization. Marsupials have two uteruses, each of which connect to a lateral vagina and which both use a third, middle 'vagina' which functions as the birth canal. Marsupial embryos form a choriovitelline 'placenta' (which can be thought of as something between a monotreme egg and a 'true' placenta), in which the egg's yolk sac supplies a large part of the embryo's nutrition but also attaches to the uterine wall and takes nutrients from the mother's bloodstream." xsd:string property_value: UBPROP:0000011 "Two uteruses usually form initially in a female fetus, and in placental mammals they may partially or completely fuse into a single uterus depending on the species. In many species with two uteruses, only one is functional. Humans and other higher primates such as chimpanzees, along with horses, usually have a single completely fused uterus, although in some individuals the uteruses may not have completely fused [Wikipedia:Uterus]" xsd:string [Term] id: UBERON:0000996 name: vagina namespace: uberon def: "A fibromuscular tubular tract leading from the uterus to the exterior of the body in female placental mammals and marsupials, or to the cloaca in female birds, monotremes, and some reptiles[WP]." [http://orcid.org/0000-0002-6601-2165, Wikipedia:Vagina] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "distal oviductal region" RELATED [] synonym: "distal portion of oviduct" RELATED [] synonym: "vaginae" RELATED PLURAL [] xref: BTO:0000243 xref: CALOHA:TS-1103 xref: EFO:0000976 xref: EMAPA:18986 xref: EV:0100117 xref: FMA:19949 xref: GAID:381 xref: galen:Vagina xref: MA:0000394 xref: MAT:0000128 xref: MESH:D014621 xref: MIAA:0000128 xref: NCIT:C12407 xref: SCTID:181441005 xref: UMLS:C0042232 {source="ncithesaurus:Vagina"} xref: VHOG:0001138 xref: Wikipedia:Vagina is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000990 ! reproductive system relationship: part_of UBERON:0000993 ! oviduct property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/1/1b/Illu_repdt_female.jpg xsd:anyURI property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/a/a4/Vaginal_opening_-_english_description.jpg xsd:anyURI property_value: external_definition "Organ with organ cavity which connects the cervical canal of uterus to the vestibule of vagina.[FMA]" xsd:string {date_retrieved="2012-11-29", external_class="FMA:19949", ontology="FMA"} property_value: external_definition "The genital canal in the female, leading from the opening of the vulva to the cervix of the uterus. [TFD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001138", ontology="VHOG", source="http://bgee.unil.ch/", source="http://medical-dictionary.thefreedictionary.com/vagina"} property_value: has_relational_adjective "vaginal" xsd:string property_value: homology_notes "The distal end of the oviducts differentiates as a vagina in Metatheria and Eutheria.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001138", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.688", source="http://bgee.unil.ch/"} property_value: UBPROP:0000011 "'The distal end of the oviducts differentiates as a vagina in Metatheria and Eutheria.' Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective, Third Edition (2001) Orlando Fla.: Harcourt College Publishers, p.688" xsd:string [Term] id: UBERON:0000997 name: mammalian vulva namespace: uberon def: "External genital organs of the female mammal[WP]." [Wikipedia:Vulva] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "female pudendum" EXACT DEPRECATED [BTO:0003101, doi:10.1002/ca.23705, FMA:20462] synonym: "mammalian vulva" EXACT [] synonym: "puboperineal region" EXACT [FMA:20462] synonym: "pudendum" RELATED DEPRECATED [BTO:0003101, doi:10.1002/ca.23705] synonym: "pudendum femininum" EXACT DEPRECATED [doi:10.1002/ca.23705, FMA:20462, FMA:TA] synonym: "pudendum femininum" RELATED DEPRECATED [doi:10.1002/ca.23705, Wikipedia:Vulva] synonym: "pudendum muliebre" RELATED DEPRECATED [BTO:0003101, doi:10.1002/ca.23705] synonym: "vulva" EXACT [MA:0000395] xref: BTO:0003101 xref: CALOHA:TS-1168 xref: EFO:0000978 xref: EMAPA:36631 xref: EV:0100118 xref: FMA:20462 xref: GAID:383 xref: galen:Vulva xref: MA:0000395 xref: MAT:0000169 xref: MESH:D014844 xref: MIAA:0000169 xref: NCIT:C12408 xref: SCTID:265796001 xref: UMLS:C0042993 {source="ncithesaurus:Vulva"} xref: VHOG:0001458 xref: Wikipedia:Vulva is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0000990 ! reproductive system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/d/da/Female_unshaved_genitalia.jpg xsd:anyURI property_value: external_definition "The external genital organs of the female, including the labia majora, labia minora, clitoris, and vestibule of the vagina. [TFD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001458", ontology="VHOG", source="http://bgee.unil.ch/", source="http://medical-dictionary.thefreedictionary.com/vulva"} property_value: has_relational_adjective "vulval" xsd:string [Term] id: UBERON:0000998 name: seminal vesicle namespace: uberon def: "Either of a pair of glandular pouches that lie one on either side of the male reproductive tract posterolateral to the urinary bladder and in the human male secrete a sugar- and protein-containing fluid into the ejaculatory duct." [BTO:0001234, Wikipedia:Seminal_vesicle] subset: efo_slim subset: organ_slim subset: pheno_slim subset: uberon_slim synonym: "glandula seminalis" RELATED [BTO:0001234] synonym: "glandula vesiculosa" RELATED [BTO:0001234] synonym: "gonecyst" RELATED [] synonym: "seminal gland" BROAD [] synonym: "vas efferens" RELATED [] synonym: "vesicula seminalis" RELATED [BTO:0001234, Wikipedia:Seminal_vesicle] synonym: "vesiculae seminales" RELATED LATIN [Wikipedia:Seminal_vesicle] synonym: "vesicular gland" RELATED [Wikipedia:Seminal_vesicle] synonym: "vesicular glands" RELATED [Wikipedia:Seminal_vesicle] synonym: "vesicular seminalis" RELATED [Wikipedia:Seminal_vesicle] synonym: "vesiculæ seminales" RELATED [Wikipedia:Seminal_vesicle] xref: AAO:0010788 xref: BTO:0001234 xref: CALOHA:TS-0919 xref: EFO:0000986 xref: EMAPA:19180 xref: EV:0100106 xref: FMA:19386 xref: GAID:394 xref: MA:0000410 xref: MAT:0000171 xref: MESH:D012669 xref: MIAA:0000171 xref: NCIT:C12787 xref: SCTID:181434004 xref: UMLS:C0036628 {source="ncithesaurus:Seminal_Vesicle"} xref: VHOG:0001379 xref: Wikipedia:Seminal_vesicle is_a: UBERON:0002530 ! gland relationship: part_of UBERON:0000079 ! male reproductive system relationship: part_of UBERON:0000473 ! testis relationship: part_of UBERON:0000990 ! reproductive system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/d/d1/Male_anatomy_en.svg xsd:anyURI property_value: external_definition "Either of a pair of pouchlike glands situated on each side of the male urinary bladder that secrete seminal fluid and nourish and promote the movement of spermatozoa through the urethra. [TFD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001379", ontology="VHOG", source="http://bgee.unil.ch/", source="http://medical-dictionary.thefreedictionary.com/prominence"} property_value: homology_notes "(In mammalian testis) Along the way (the sperm travel), three accessory sex glands, the seminal vesicle, prostate, and bulbourethral (Cowper's) gland, respectively, add their secretions as sperm move from the testes to the urethra.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001379", ontology="VHOG", source="ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.556", source="http://bgee.unil.ch/"} property_value: UBPROP:0000009 "The seminal vesicles secrete a significant proportion of the fluid that ultimately becomes semen. Lipofuscin granules from dead epithelial cells give the secretion its yellowish color. About 50-70% of the seminal fluid in humans originates from the seminal vesicles, but is not expelled in the first ejaculate fractions which are dominated by spermatozoa and zinc-rich prostatic fluid." xsd:string [Term] id: UBERON:0000999 name: ejaculatory duct namespace: uberon def: "The Ejaculatory ducts (ductus ejaculatorii) are paired structures in male anatomy, about 2 cm in length. Each ejaculatory duct is formed by the union of the vas deferens with the duct of the seminal vesicle. They pass through the prostate, and empty into the urethra at the Colliculus seminalis. During ejaculation, semen passes through the ducts and exits the body via the penis[WP,unvetted]." [Wikipedia:Ejaculatory_duct] subset: efo_slim subset: uberon_slim synonym: "ductus ejaculatorii" EXACT PLURAL [BTO:0001580] synonym: "ductus ejaculatorii" RELATED LATIN [Wikipedia:Ejaculatory_duct] synonym: "ductus ejaculatorius" EXACT [BTO:0001580] xref: BTO:0001580 xref: CALOHA:TS-0211 xref: EFO:0000985 xref: EMAPA:19088 xref: FMA:19325 xref: GAID:388 xref: MA:0003247 xref: MAT:0000170 xref: MESH:D004543 xref: MIAA:0000170 xref: NCIT:C32493 xref: SCTID:279665005 xref: UMLS:C0013747 {source="ncithesaurus:Ejaculatory_Duct"} xref: Wikipedia:Ejaculatory_duct is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000079 ! male reproductive system relationship: part_of UBERON:0000990 ! reproductive system property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/3/35/Male_anatomy.png xsd:anyURI [Term] id: UBERON:0001000 name: vas deferens namespace: uberon def: "A secretory duct that transports sperm from the testis. In mammals this is a continuation of the epididymis and ends in the prostatic urethra where it terminates to form ejaculatory duct." [http://orcid.org/0000-0002-6601-2165, ISBN:0-683-40008-8, MGI:pvb, MP:0002769, Wikipedia:Vas_deferens] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "deferent duct" EXACT [] synonym: "ductus deferens" EXACT [Wikipedia:Vas_deferens] synonym: "sperm duct" RELATED [] synonym: "vas deferen" EXACT [] synonym: "vasa deferentia" RELATED [] xref: BTO:0001427 xref: CALOHA:TS-1105 xref: EFO:0000981 xref: EMAPA:18681 xref: EV:0100105 xref: FMA:19234 xref: GAID:404 xref: galen:VasDeferens xref: MA:0000413 xref: MESH:D014649 xref: MIAA:0000129 xref: NCIT:C12813 xref: SCTID:245467009 xref: UMLS:C0042360 {source="ncithesaurus:Vas_Deferens"} xref: VHOG:0001135 xref: Wikipedia:Vas_deferens is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000079 ! male reproductive system relationship: part_of UBERON:0000990 ! reproductive system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/d/d1/Male_anatomy_en.svg xsd:anyURI property_value: homology_notes "The continuation of the archinephric duct, now called the deferent duct, extends caudally to the cloaca or to the part of the mammalian urethra that is derived from the cloaca.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001135", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.670", source="http://bgee.unil.ch/"} property_value: taxon_notes "Most vertebrates have some form of duct to transfer the sperm from the testes to the urethra. In cartilaginous fish and amphibians, sperm is carried through the archinephric duct, which also partially helps to transport urine from the kidneys. In teleosts, there is a distinct sperm duct, separate from the ureters, and often called the vas deferens, although probably not truly homologous with that in humans. In cartilaginous fishes, the part of the archinephric duct closest to the testis is coiled up to form an epididymis. Below this are a number of small glands secreting components of the seminal fluid. The final portion of the duct also receives ducts from the kidneys in most species. In amniotes, however, the archinephric duct has become a true vas deferens, and is used only for conducting sperm, never urine. As in cartilaginous fish, the upper part of the duct forms the epididymis. In many species, the vas deferens ends in a small sac for storing sperm. The only vertebrates to lack any structure resembling a vas deferens are the primitive jawless fishes, which release sperm directly into the body cavity, and then into the surrounding water through a simple opening in the body wall." xsd:string {source="WP"} [Term] id: UBERON:0001001 name: chitin-based cuticle namespace: uberon def: "A cuticular covering that is composed primarily of chitin. The main structural component of arthropod cuticle is a polysaccharide, chitin, composed of N-acetylglucosamine units, together with proteins and lipids[WP]." [https://orcid.org/0000-0002-6601-2165, https://sourceforge.net/tracker/index.php?func=detail&aid=3348965&group_id=36855&atid=440764, Wikipedia:Arthropod_exoskeleton, Wikipedia:Cuticle#Invertebrate_zoology] subset: efo_slim subset: uberon_slim synonym: "arthropod cuticle" RELATED [] synonym: "arthropod exoskeleton" RELATED [Wikipedia:Arthropod_exoskeleton] synonym: "cuticle" NARROW [FBbt:00004970] synonym: "exoskeleton" BROAD [] synonym: "insect cuticle" RELATED [] xref: EFO:0000944 xref: FBbt:00004970 xref: HAO:0000240 xref: MAT:0000150 xref: MIAA:0000150 xref: Wikipedia:Arthropod_exoskeleton is_a: EFO:0003858 ! skeleton structure relationship: part_of UBERON:0002416 ! integumental system property_value: IAO:0000116 "TODO - split from exoskeleton? Also: See above sf item to see if this belongs in GO" xsd:string [Term] id: UBERON:0001003 name: skin epidermis namespace: uberon def: "The outer epithelial layer of the skin that is superficial to the dermis." [http://orcid.org/0000-0002-6601-2165, ISBN:0073040584] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "epidermis" BROAD [] synonym: "skin" BROAD [] synonym: "vertebrate epidermis" EXACT [] xref: AAO:0000143 xref: BTO:0000404 xref: CALOHA:TS-0283 xref: EFO:0000954 xref: EMAPA:17528 xref: EV:0100153 xref: FMA:70596 xref: GAID:932 xref: MA:0000153 xref: MAT:0000154 xref: MESH:D004817 xref: MIAA:0000154 xref: NCIT:C12708 xref: SCTID:361694003 xref: TAO:0000105 xref: UMLS:C0014520 {source="ncithesaurus:Epidermis"} xref: VHOG:0000077 xref: Wikipedia:Epidermis_(skin) xref: XAO:0000028 xref: ZFA:0000105 is_a: UBERON:0000483 ! epithelium relationship: part_of UBERON:0002097 ! skin of body property_value: axiom_lost_from_external_ontology "relationship loss: subclass external integument structures (AAO:0000961)[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000143", ontology="AAO"} property_value: external_definition "A cellular, multilayered epithelium derived from the ectoderm. Zebrafish epidermis consists only of living cells unlike terrestrial vertebrates in which dead, keratinized cells are present. Le Guellec et al, 2004.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000105", ontology="TAO", source="ZFIN:curator"} property_value: external_definition "The outer epithelial layer of the external integument of the body that is derived from the embryonic epiblast.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000143", ontology="AAO", source="AAO:BJB"} property_value: has_relational_adjective "epidermal" xsd:string property_value: homology_notes "(...) outer epithelia in all metazoan animals are homologous. (...) The ancestor of all metazoans likely had an epidermis with a basal extracellular matrix (ECM), an apical extracellular glycocalyx, and one cilium with a striated rootlet per cell.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000077", ontology="VHOG", source="ISBN:978-0198566694 Schmidt-Rhaesa A, The evolution of organ systems (2007) p.71-72", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "Zebrafish epidermis consists only of living cells unlike terrestrial vertebrates in which dead, keratinized cells are present. In terrestrial vertebrates the epidermis often forms an outer keratinized or cornified layer, the stratum corneum. Interaction between the epideris and dermis gives rise to feathers (birds), hair and mammary glands (mammals), teeth and scales (placoid: chondrichthyans; cosmoids, ganoid, cycloid in bony fishes)." xsd:string [Term] id: UBERON:0001004 name: respiratory system namespace: uberon def: "Functional system which consists of structures involved in respiration." [http://orcid.org/0000-0002-6601-2165, Wikipedia:Respiratory_system] subset: efo_slim subset: functional_classification subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "apparatus respiratorius" EXACT [] synonym: "apparatus respiratorius" RELATED [BTO:0000203] synonym: "Atmungssystem" RELATED [BTO:0000203] synonym: "respiratory system" EXACT [] synonym: "systema respiratorium" RELATED LATIN [Wikipedia:Respiratory_system] xref: AAO:0000541 xref: BTO:0000203 xref: CALOHA:TS-1319 xref: EFO:0000804 xref: EHDAA2:0001604 xref: EHDAA:2203 xref: EMAPA:16727 xref: EV:0100036 xref: FMA:7158 xref: GAID:78 xref: MA:0000327 xref: MAT:0000030 xref: MESH:D012137 xref: MIAA:0000030 xref: NCIT:C12779 xref: SCTID:278197002 xref: TAO:0000272 xref: UMLS:C0035237 {source="ncithesaurus:Respiratory_System"} xref: VHOG:0000202 xref: Wikipedia:Respiratory_system xref: XAO:0000117 xref: ZFA:0000272 is_a: UBERON:0000467 ! anatomical system disjoint_from: UBERON:0001007 ! digestive system disjoint_from: UBERON:0001009 ! circulatory system disjoint_from: UBERON:0001016 ! nervous system disjoint_from: UBERON:0001033 ! gustatory system disjoint_from: UBERON:0001434 ! skeletal system disjoint_from: UBERON:0002204 ! musculoskeletal system disjoint_from: UBERON:0002294 ! biliary system disjoint_from: UBERON:0002390 ! hematopoietic system disjoint_from: UBERON:0002405 ! immune system disjoint_from: UBERON:0002416 ! integumental system disjoint_from: UBERON:0002423 ! hepatobiliary system relationship: never_in_taxon NCBITaxon:147099 {source="Wikipedia:Acoelomorpha"} property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/5/5e/Respiratory_system_complete_en.svg xsd:anyURI property_value: external_definition "The anatomical system in which the exchange of oxygen and carbon dioxide between the organism and its environment.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000541", ontology="AAO", source="AAO:BJB"} property_value: homology_notes "There is no doubt that the primitive pattern of vertebrate air-breathing is the buccal pulse pump found in actinopterygian fishes.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000202", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.599 and Figure 18-23", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001007 name: digestive system namespace: uberon def: "Anatomical system that has as its parts the organs devoted to the ingestion, digestion, and assimilation of food and the discharge of residual wastes." [FB:gg, NLM:alimentary+system, Wikipedia:Digestive_system] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "alimentary system" RELATED [] synonym: "alimentary tract" RELATED [] synonym: "gastrointestinal system" RELATED [] synonym: "gut" RELATED [] xref: AAO:0000129 xref: BILA:0000082 xref: BTO:0000058 xref: CALOHA:TS-1293 xref: EFO:0000793 xref: EV:0100056 xref: FBbt:00005055 xref: FMA:7152 xref: GAID:278 xref: galen:DigestiveSystem xref: MA:0002431 xref: MAT:0000018 xref: MESH:D004064 xref: MIAA:0000018 xref: ncithesaurus:Digestive_System xref: SCTID:278859004 xref: TADS:0000170 xref: TAO:0000339 xref: WBbt:0005748 xref: Wikipedia:Digestive_system xref: XAO:0000125 xref: ZFA:0000339 is_a: UBERON:0000467 ! anatomical system disjoint_from: UBERON:0001009 ! circulatory system disjoint_from: UBERON:0001016 ! nervous system disjoint_from: UBERON:0001033 ! gustatory system disjoint_from: UBERON:0001434 ! skeletal system disjoint_from: UBERON:0002204 ! musculoskeletal system disjoint_from: UBERON:0002294 ! biliary system disjoint_from: UBERON:0002390 ! hematopoietic system disjoint_from: UBERON:0002405 ! immune system disjoint_from: UBERON:0002416 ! integumental system disjoint_from: UBERON:0002423 ! hepatobiliary system property_value: external_definition "An anatomical system consisting of the alimentary canal and digestive glands responsible for intake, absorption, digestion and excretion of food.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000129", ontology="AAO", source="AAO:BJB"} property_value: has_relational_adjective "digestive" xsd:string property_value: UBPROP:0000012 "many anatomy ontologies consider gastrointestinal system synonymous with digestive system. here we follow MA in dividing digestive system into gastrointestinal and hepatobiliary. hepatobiliary includes the liver and biliary tract. species-specific AO classes are categorized according to whether liver is included. For example, XAO includes liver as part of XAO:0000125 alimentary system, so we assume this class is the more generic class" xsd:string {external_ontology="MA"} [Term] id: UBERON:0001008 name: renal system namespace: uberon def: "The renal system in an anatomical system that maintains fluid balance and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products." [DOI:10.1371/journal.pone.0099864, GO:0072001] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "excretory system" BROAD [] synonym: "renal or urinary system" RELATED [EHDAA:5901] synonym: "renal/urinary system" RELATED [] synonym: "systema urinaria" EXACT [FMA:7159] synonym: "systema urinarium" EXACT [BTO:0003092] synonym: "urinary system" EXACT [] synonym: "urinary tract" EXACT [] xref: AAO:0010257 xref: BILA:0000015 xref: BTO:0001244 xref: BTO:0003092 xref: CALOHA:TS-1323 xref: EFO:0000803 xref: EHDAA2:0001601 xref: EHDAA:5901 xref: EMAPA:17366 xref: EV:0100095 xref: FBbt:00005056 xref: FMA:7159 xref: GAID:391 xref: galen:UrinaryTract xref: MA:0000325 xref: MAT:0000027 xref: MESH:D014551 xref: MIAA:0000027 xref: NCIT:C12413 xref: SCTID:362204003 xref: TADS:0000162 xref: TAO:0000163 xref: UMLS:C1508753 {source="ncithesaurus:Urinary_System"} xref: VHOG:0000723 xref: WBbt:0005736 xref: Wikipedia:Excretory_system xref: XAO:0000143 xref: ZFA:0000163 is_a: UBERON:0000467 ! anatomical system relationship: never_in_taxon NCBITaxon:110815 {source="Wikipedia"} relationship: never_in_taxon NCBITaxon:147099 {source="Wikipedia:Acoelomorpha"} property_value: external_definition "An anatomical system which consists of organs and tissues which produce, store, and excrete urine.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010257", ontology="AAO", source="AAO:BJB"} property_value: homology_notes "Evolution of vertebrate renal anatomy appears quite conservative when compared, for example, to evolution of respiratory and cardiovascular systems in vertebrates. Major anatomical changes in vertebrates kidneys separate those of birds and mammals from kidneys of lower vertebrates. General increase in animal size from fish to mammals is reflected by an increase in total number of nephrons per kidney, rather than by constant change in tubular dimensions.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000723", ontology="VHOG", source="ISBN:978-3540428541 Kapoor BG, Bhavna Khanna, Ichthyology Handbook (2004) p.406", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "In various sources such as Encyclopedia Britannica, the excretory and urinary systems are indeed the same system (see wikipedia talk page); we merge two BTO classes here" xsd:string property_value: taxon_notes "In humans, the renal system comprises a pair of kidneys, a pair of ureters, urinary bladder, urethra, sphincter muscle and associated blood vessels" xsd:string {source="GO"} property_value: taxon_notes "This definition is inclusive of the organs of the vertebrate renal system, as well as the Malpighian tubules of insects, and allows for future incorporation of structures such as the antennal glands of crustaceans" xsd:string {source="DOI:10.1371/journal.pone.0099864"} [Term] id: UBERON:0001009 name: circulatory system namespace: uberon def: "Organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis[WP]." [Wikipedia:Circulatory_system] subset: uberon_slim synonym: "systema cardiovasculare" RELATED LATIN [Wikipedia:Circulatory_system] xref: AAO:0000959 xref: CALOHA:TS-2103 xref: VHOG:0001248 xref: Wikipedia:Circulatory_system is_a: UBERON:0000467 ! anatomical system disjoint_from: UBERON:0001016 ! nervous system disjoint_from: UBERON:0001033 ! gustatory system disjoint_from: UBERON:0001434 ! skeletal system disjoint_from: UBERON:0002204 ! musculoskeletal system disjoint_from: UBERON:0002294 ! biliary system disjoint_from: UBERON:0002390 ! hematopoietic system disjoint_from: UBERON:0002405 ! immune system disjoint_from: UBERON:0002416 ! integumental system disjoint_from: UBERON:0002423 ! hepatobiliary system relationship: never_in_taxon NCBITaxon:147099 {source="Wikipedia:Acoelomorpha"} relationship: never_in_taxon NCBITaxon:6073 relationship: never_in_taxon NCBITaxon:6157 relationship: RO:0002174 NCBITaxon:6231 {notes="WBbt coelomocyte currently classified as circulating cell"} ! dubious_for_taxon property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/2/29/Circulatory_System_en.svg xsd:anyURI property_value: external_definition "Anatomical system of ion binding, a pumping mechanism, and an efficient vascular system; consisting of the blood, heart, and blood and lymph vessels, respectively.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000959", ontology="AAO", source="AAO:BJB"} property_value: homology_notes "We should divest ourselves of the view that earlier vertebrate groups were 'on their way' to becoming mammals, as clearly they were not such visionaries. Neither were their systems 'imperfect' as earlier anatomists thought. Instead, their circulatory systems served them well to address the ecological demands arising from their lifestyles.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001248", ontology="VHOG", source="ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.493", source="http://bgee.unil.ch/"} property_value: IAO:0000232 "the cardiovascular system and the lymphatic system are parts of the circulatory system" xsd:string [Term] id: UBERON:0001013 name: adipose tissue namespace: uberon def: "Portion of connective tissue composed of adipocytes enmeshed in areolar tissue." [http://orcid.org/0000-0002-6601-2165, MESH:A10.165.114, MGI:cwg, MP:0000003, Wikipedia:Adipose_tissue] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "adipose" RELATED [BTO:0001487] synonym: "bodyfat" RELATED [BTO:0001487] synonym: "fat" EXACT [MA:0000009] synonym: "fat tissue" EXACT [] synonym: "fatty depot" RELATED [] synonym: "fatty tissue" EXACT [] xref: AAO:0000001 xref: AEO:000020 xref: BTO:0001487 xref: CALOHA:TS-0013 xref: EFO:0000790 xref: EHDAA2:0003120 xref: EMAPA:35112 xref: EV:0100381 xref: FMA:20110 xref: GAID:920 xref: galen:FattyTissue xref: MA:0000009 xref: MAT:0000015 xref: MESH:D000273 xref: MIAA:0000015 xref: NCIT:C12472 xref: SCTID:55603005 xref: TAO:0002134 xref: UMLS:C0001527 {source="ncithesaurus:Adipose_Tissue"} xref: VHOG:0001284 xref: Wikipedia:Adipose_tissue xref: XAO:0003049 xref: ZFA:0005345 is_a: UBERON:0002384 ! connective tissue property_value: axiom_lost_from_external_ontology "relationship loss: subclass connective tissue proper (AAO:0000099)[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000001", ontology="AAO"} property_value: external_definition "Connective tissue in which fat is stored.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0002134", ontology="TAO", source="ZFIN:curator"} property_value: external_definition "Tissue that contains adipocytes, used for cushioning, thermal insulation, lubrication (primarily in the pericardium) and energy storage.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000001", ontology="AAO", source="AAO:LAP"} property_value: has_relational_adjective "adipose" xsd:string property_value: homology_notes "Adipose tissue is unique to vertebrates. It is found in mostmammals, birds, reptiles and amphibians, and a variety is found in some species of fish. Furthermore, in insects the fat body found in larvae as well as in adults shares some homology with adipose tissue.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001284", ontology="VHOG", source="DOI:10.1017/S0029665107005423 Haugen F, Drevon CA, The interplay between nutrients and the adipose tissue. The Proceedings of the Nutrition Society (2007)", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "In humans, adipose tissue is located beneath the skin (subcutaneous fat), around internal organs (visceral fat), in bone marrow (yellow bone marrow) and in breast tissue. Adipose tissue is found in specific locations, which are referred to as adipose depots. Adipose tissue contains several cell types, with the highest percentage of cells being adipocytes, which contain fat droplets. Other cell types include fibroblasts, macrophages, and endothelial cells. Adipose tissue contains many small blood vessels.; Mice have eight major adipose depots, four of which are within the abdominal cavity. The paired gonadal depots are attached to the uterus and ovaries in females and the epididymis and testes in males; the paired retroperitoneal depots are found along the dorsal wall of the abdomen, surrounding the kidney, and, when massive, extend into the pelvis. The mesenteric depot forms a glue-like web that supports the intestines, and the omental depot, which originates near the stomach and spleen, and, when massive, extends into the ventral abdomen." xsd:string property_value: UBPROP:0000012 "in FMA this is dense irregular connective tissue" xsd:string {external_ontology="FMA"} [Term] id: UBERON:0001015 name: musculature namespace: uberon def: "A subdivision of the muscular system corresponding to a subdisivision of an organism." [https://orcid.org/0000-0002-6601-2165, Wikipedia:Muscular_system] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "muscle group" EXACT [] synonym: "muscle system" RELATED [] synonym: "muscles" RELATED [] synonym: "muscles set" EXACT [] synonym: "musculature" EXACT [] synonym: "musculature system" RELATED [] synonym: "musculi" EXACT LATIN [FMA:32558, FMA:TA] synonym: "set of muscles" EXACT [FMA:32558] synonym: "set of skeletal muscles" EXACT [MA:0000165] xref: AAO:0011066 xref: BTO:0000887 xref: EFO:0001949 xref: EMAPA:32715 xref: EMAPA:35577 xref: FMA:32558 xref: MA:0000165 xref: NCIT:C13056 xref: TAO:0000548 xref: UMLS:C0026845 {source="ncithesaurus:Muscle"} xref: VSAO:0005038 xref: WBbt:0005737 xref: Wikipedia:Muscular_system xref: ZFA:0000548 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000383 ! musculature of body relationship: part_of UBERON:0000467 ! anatomical system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/e/e5/Muscles_anterior_labeled.png xsd:anyURI property_value: RO:0002171 UBERON:0001474 property_value: UBPROP:0000012 "In FMA this is classified as a set of organs. ZFA musculature system has subtypes, so it is classified here. WBbt muscular system has subtypes so it goes here. Note that we use the MA term set of skeletal muscles here as it seems most appropriate (*not* MA:musculature). AAO is generally confused here." xsd:string {external_ontology="FMA"} [Term] id: UBERON:0001016 name: nervous system namespace: uberon def: "The nervous system is an organ system containing predominantly neuron and glial cells. In bilaterally symmetrical organism, it is arranged in a network of tree-like structures connected to a central body. The main functions of the nervous system are to regulate and control body functions, and to receive sensory input, process this information, and generate behavior [CUMBO]." [BIRNLEX:844, ISBN:0-14-051288-8, ISBN:3110148986, NLM:nervous+system, WB:rynl, Wikipedia:Nervous_system, ZFIN:curator] subset: cumbo subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "nerve net" NARROW [Wikipedia:Nerve_net] synonym: "neurological system" EXACT [GO:0050877] synonym: "systema nervosum" RELATED LATIN [Wikipedia:Nervous_system] xref: AAO:0000324 xref: BILA:0000079 xref: BIRNLEX:844 xref: BTO:0001484 xref: CALOHA:TS-1313 xref: EFO:0000802 xref: EHDAA2:0001246 xref: EHDAA:826 xref: EMAPA:16469 xref: EV:0100162 xref: FBbt:00005093 xref: FMA:7157 xref: GAID:466 xref: MA:0000016 xref: MAT:0000026 xref: MESH:D009420 xref: MIAA:0000026 xref: NCIT:C12755 xref: neuronames:3236 xref: SCTID:278196006 xref: TAO:0000396 xref: UMLS:C0027763 {source="ncithesaurus:Nervous_System"} xref: VHOG:0000402 xref: WBbt:0005735 xref: Wikipedia:Nervous_system xref: XAO:0000177 xref: ZFA:0000396 is_a: UBERON:0000467 ! anatomical system disjoint_from: UBERON:0001033 ! gustatory system disjoint_from: UBERON:0001434 ! skeletal system disjoint_from: UBERON:0002204 ! musculoskeletal system disjoint_from: UBERON:0002294 ! biliary system disjoint_from: UBERON:0002390 ! hematopoietic system disjoint_from: UBERON:0002405 ! immune system disjoint_from: UBERON:0002416 ! integumental system disjoint_from: UBERON:0002423 ! hepatobiliary system relationship: never_in_taxon NCBITaxon:6040 property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/b/b2/TE-Nervous_system_diagram.svg xsd:anyURI property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/b/ba/Nervous_system_diagram.png xsd:anyURI property_value: external_definition "A regulatory system of the body that consists of neurons and neuroglial cells. The nervous system is divided into two parts, the central nervous system (CNS) and the peripheral nervous system (PNS). (Source: BioGlossary, www.Biology-Text.com)[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000396", ontology="TAO", source="ZFIN:curator"} property_value: external_definition "Anatomical system consisting of nerve bodies and nerve fibers which regulate the response of the body to external and internal stimuli.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000324", ontology="AAO", source="AAO:BJB"} property_value: has_relational_adjective "nervous" xsd:string property_value: has_relational_adjective "neural" xsd:string property_value: homology_notes "Nervous systems evolved in the ancestor of Eumetazoa.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000402", ontology="VHOG", source="ISBN:978-0198566694 Schmidt-Rhaesa A, The evolution of organ systems (2007) p.117", source="http://bgee.unil.ch/"} [Term] id: UBERON:0001017 name: central nervous system namespace: uberon def: "The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the neural tube derivatives: the brain and spinal cord. In invertebrates it includes central ganglia plus nerve cord." [GO:0021551, http://www.frontiersinzoology.com/content/7/1/29, https://sourceforge.net/p/geneontology/ontology-requests/11422/] subset: cumbo subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "cerebrospinal axis" NARROW [FMA:55675] synonym: "CNS" EXACT ABBREVIATION [] synonym: "neuraxis" RELATED [FMA:55675] synonym: "systema nervosum centrale" EXACT LATIN [FMA:55675, FMA:TA] xref: AAO:0000090 xref: BAMS:CNS xref: BILA:0000080 xref: BIRNLEX:1099 xref: BTO:0000227 xref: CALOHA:TS-0150 xref: EFO:0000908 xref: EHDAA2:0000225 xref: EHDAA:828 xref: EMAPA:16470 xref: EMAPA:16754 xref: EV:0100163 xref: FBbt:00005094 xref: FMA:55675 xref: GAID:570 xref: MA:0000167 xref: MAT:0000457 xref: MESH:D002490 xref: NCIT:C12438 xref: neuronames:854 xref: SCTID:278199004 xref: TAO:0000012 xref: UMLS:C0927232 {source="ncithesaurus:Central_Nervous_System", source="BIRNLEX:1099"} xref: VHOG:0000293 xref: Wikipedia:Central_nervous_system xref: XAO:0000215 xref: ZFA:0000012 is_a: UBERON:0000061 ! anatomical structure relationship: never_in_taxon NCBITaxon:147099 {source="Wikipedia:Acoelomorpha"} relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001016 ! nervous system property_value: external_definition "Part of the nervous system which includes the brain and spinal cord.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000090", ontology="AAO", source="AAO:BJB"} property_value: external_definition "The brain and spinal cord. Kimmel et al, 1995.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000012", ontology="TAO", source="ZFIN:curator"} property_value: external_definition "The central nervous system (CNS) is the part of the nervous system which includes the brain, spinal cord, and nerve cell layer of the retina (CUMBO)." xsd:string {source="BIRNLEX:1099"} property_value: homology_notes "(...) at some stage of its development, every chordate exhibits five uniquely derived characters or synapomorphies of the group: (...) (4) a single, tubular nerve cord that is located dorsal to the notochord (...) (reference 1); The neural tube is destined to differentiate into the brain and spinal cord (the central nervous system) (reference 2); Taken together, our data make a very strong case that the complex molecular mediolateral architecture of the developing trunk CNS (central nervous system), as shared between Platynereis and vertebrates, was already present in their last common ancestor, Urbilateria. The concept of bilaterian nervous system centralization implies that neuron types concentrate on one side of the trunk, as is the case in vertebrates and many invertebrates including Platynereis, where they segregate and become spatially organized (as opposed to a diffuse nerve net). Our data reveal that a large part of the spatial organization of the annelid and vertebrate CNS was already present in their last common ancestor, which implies that Urbilateria had already possessed a CNS (reference 3).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000293", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.28 (reference 1), ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.165 (reference 2), DOI:10.1016/j.cell.2007.02.040 Denes AS, Jekely G, Steinmetz PRH, Raible F, Snyman H, Prud'homme B, Ferrier DEK, Balavoine G and Arendt D, Molecular architecture of annelid nerve cord supports common origin of nervous system centralization in Bilateria. Cell (2007) (reference 3)", source="http://bgee.unil.ch/"} [Term] id: UBERON:0001021 name: nerve namespace: uberon def: "An enclosed, cable-like bundle of axons in the peripheral nervous system originating in a nerve root in the central nervous system (or a condensed nervous structure) connecting with peripheral structures." [FBbt:00005105, http://orcid.org/0000-0002-6601-2165] subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "nerves" EXACT PLURAL [TAO:0007009] synonym: "neural subtree" RELATED [FMA:65132] synonym: "peripheral nerve" EXACT [http://orcid.org/0000-0002-6601-2165] xref: AAO:0011070 xref: AEO:0000137 xref: BAMS:n xref: BIRNLEX:1615 xref: BSA:0000098 xref: BTO:0000925 xref: BTO:0001027 xref: CALOHA:TS-0772 xref: EHDAA2:0003137 xref: EHDAA:2851 xref: EHDAA:3776 xref: EHDAA:4657 xref: EMAPA:32808 xref: EMAPA:32815 xref: EV:0100371 xref: FBbt:00005105 xref: FMA:65132 xref: FMA:65239 xref: GAID:747 xref: GAID:758 xref: galen:Nerve xref: MA:0000217 xref: MA:0000228 xref: MESH:D010525 xref: NCIT:C12466 xref: NCIT:C12768 xref: NLX:147826 xref: SCTID:244457007 xref: SCTID:256864008 xref: TAO:0007009 xref: UMLS:C0027740 {source="ncithesaurus:Nerve"} xref: UMLS:C0031119 {source="ncithesaurus:Peripheral_Nerve"} xref: VHOG:0000901 xref: Wikipedia:Nervous_system xref: XAO:0000204 xref: XAO:0003047 xref: ZFA:0007009 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000010 ! peripheral nervous system relationship: part_of UBERON:0001016 ! nervous system property_value: external_definition "A portion of tissue which is a fasiculated group of axons.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0007009", ontology="TAO", source="ZFIN:curator"} property_value: has_relational_adjective "nervous" xsd:string property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001032 name: sensory system namespace: uberon def: "Anatomical system that overlaps the nervous system and is responsible for receiving and processing sensory information." [Wikipedia:Sensory_system] subset: efo_slim subset: uberon_slim subset: vertebrate_core synonym: "organa sensuum" EXACT LATIN [FMA:75259, FMA:TA] synonym: "organa sensuum" RELATED LATIN [Wikipedia:Sensory_system] synonym: "sense organ subsystem" EXACT [] synonym: "sense organs" EXACT [FMA:75259] synonym: "sense organs set" EXACT [FMA:75259] synonym: "sensory organ system" RELATED [] synonym: "sensory subsystem" EXACT [] synonym: "sensory systems" EXACT PLURAL [TAO:0000282] synonym: "set of sense organs" RELATED [FMA:75259] xref: AAO:0000555 xref: BAMS:SEN xref: BILA:0000099 xref: EFO:0000805 xref: EHDAA2:0003094 xref: EMAPA:16192 xref: FBbt:00007692 xref: FMA:75259 xref: MA:0002442 xref: MAT:0000031 xref: MIAA:0000031 xref: NLXANAT:090816 xref: TAO:0000282 xref: VHOG:0001674 xref: Wikipedia:Sensory_system xref: XAO:0003194 xref: ZFA:0000282 is_a: UBERON:0001062 ! anatomical entity property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/c/c0/Gray722.png xsd:anyURI property_value: homology_notes "An early step in the evolution of neural crest, therefore, may have been the origin of a specific dorsal neural cell population contributing to sensory processing; this would predate the divergence of the amphioxus and vertebrate lineages.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001674", ontology="VHOG", source="DOI:10.1073/pnas.97.9.4449 Shimeld SM and Holland PW. Vertebrate innovations. PNAS (2000)", source="http://bgee.unil.ch/"} property_value: UBPROP:0000012 "note the distinct between entire sensory system and individual system. this reconciles is_a and part_of distinctions between ssAOs" xsd:string [Term] id: UBERON:0001033 name: gustatory system namespace: uberon def: "The sensory system for the sense of taste." [NLXANAT:090803] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "gustatory organ system" EXACT [] synonym: "taste system" EXACT [] xref: AAO:0010577 xref: BILA:0000143 xref: EFO:0000830 xref: FMA:7194 xref: MA:0002446 xref: MAT:0000275 xref: MIAA:0000275 xref: neuronames:2889 xref: NLXANAT:090803 xref: SCTID:423940004 xref: TAO:0001101 xref: Wikipedia:Gustatory_system xref: XAO:0003197 xref: ZFA:0001101 is_a: EFO:0000792 ! craniofacial tissue is_a: UBERON:0000467 ! anatomical system disjoint_from: UBERON:0001434 ! skeletal system disjoint_from: UBERON:0002204 ! musculoskeletal system disjoint_from: UBERON:0002294 ! biliary system disjoint_from: UBERON:0002390 ! hematopoietic system disjoint_from: UBERON:0002405 ! immune system disjoint_from: UBERON:0002416 ! integumental system disjoint_from: UBERON:0002423 ! hepatobiliary system relationship: part_of EFO:0000792 ! craniofacial tissue property_value: external_definition "The sensory system for the sense of taste[NLXANAT:090803]." xsd:string {source="NLXANAT:090803"} property_value: external_definition "The sensory system used for the sense of taste.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010577", ontology="AAO", source="AAO:EJS"} property_value: has_relational_adjective "gustatory" xsd:string property_value: UBPROP:0000012 "in ZFA and MA this is a subtype of sensory system. we should change sensory system to disambiguate parts and wholes" xsd:string {external_ontology="ZFA"} [Term] id: UBERON:0001037 name: strand of hair namespace: uberon def: "A filament, mostly protein, that grows from follicles found in the dermis[WP]." [Wikipedia:Hair] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "coat hair" RELATED [] synonym: "coat/ hair" RELATED [] synonym: "fur" RELATED [] synonym: "hair" EXACT [] synonym: "microchaeta" RELATED [] synonym: "quill" RELATED SENSU [] synonym: "setulae" RELATED [] synonym: "vibrissa" RELATED SENSU [] synonym: "whisker" RELATED SENSU [] xref: BTO:0001501 xref: CALOHA:TS-0430 xref: EFO:0000958 xref: EMAPA:18769 xref: EV:0100157 xref: FMA:53667 xref: GAID:71 xref: MA:0000155 xref: MAT:0000160 xref: MESH:D006197 xref: MIAA:0000160 xref: NCIT:C32705 xref: SCTID:361702001 xref: UMLS:C0018494 {source="ncithesaurus:Hair"} xref: VHOG:0001191 xref: Wikipedia:Hair is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0001003 ! skin epidermis relationship: part_of UBERON:0002416 ! integumental system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/2/25/Gray945.png xsd:anyURI property_value: IAO:0000116 "TODO for now we treat vibrissa/whisker as a syonym, but these have different follicles. We could introduce subclasses (see also: Pangolin scales)" xsd:string property_value: IAO:0000232 "this class defines an individual hair" xsd:string [Term] id: UBERON:0001038 name: chordotonal organ namespace: uberon def: "Chordotonal organs are arthropod sensory structures consisting of special sensilla called the scolopidia, which are mechano-transducers and respond mainly to stretch or flexion. In insects, they consist of bundles of internal sensilla, each of which has a cap cell, an enveloping cell and one or more sense cells. The distal end of the organ is usually attached to the cuticle of the body wall, marked by a pit, a thickened disc or a nodule of chitin, and the base of the organ is connected with the hypodermis, often by a special ligament." [FB:FBrf0056378, Wikipedia:Chordotonal_organ] comment: To be ceded to Arthropod anatomy ontology subset: efo_slim subset: organ_slim subset: uberon_slim synonym: "ch" RELATED [] synonym: "scolopophorous organ" RELATED [] xref: EFO:0000940 xref: FBbt:00005215 xref: MAT:0000209 xref: MIAA:0000209 xref: Wikipedia:Chordotonal_organ is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001032 ! sensory system [Term] id: UBERON:0001040 name: yolk sac namespace: uberon def: "A sac-like expansion of the ventral wall of the intestine, narrowed into a yolk stalk near the body[Hyman's]. Membranous sac attached to an embryo, providing early nourishment in the form of yolk in bony fishes, sharks, reptiles, birds, and primitive mammals. It functions as the developmental circulatory system of the human embryo, before internal circulation begins. In the mouse, the yolk sac is the first site of blood formation, generating primitive macrophages and erythrocytes[WP]." [Wikipedia:Yolk_sac] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "saccus vitellinus" RELATED LATIN [Wikipedia:Yolk_sac] synonym: "vesicula umbilicalis" RELATED LATIN [Wikipedia:Yolk_sac] xref: BTO:0001471 xref: CALOHA:TS-1130 xref: EFO:0003078 xref: EHDAA2:0002212 xref: EHDAA:164 xref: EMAPA:16085 xref: FMA:87180 xref: GAID:1301 xref: MESH:D015017 xref: NCIT:C14128 xref: SCTID:362845002 xref: UMLS:C0043425 {source="ncithesaurus:Yolk_Sac"} xref: VHOG:0000830 xref: Wikipedia:Yolk_sac is_a: UBERON:0000483 ! epithelium is_a: UBERON:0005292 ! extraembryonic tissue property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/1/17/Gray22.png xsd:anyURI property_value: external_definition "One of the extraembryonic fetal membranes that balloons out from the fetal midgut. [TFD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000830", ontology="VHOG", source="http://bgee.unil.ch/", source="http://medical-dictionary.thefreedictionary.com/yolk+sac"} property_value: external_definition "the extraembryonic tissue membrane, formed from the visceral endoderm and the extraembryonic mesoderm, which is located ventral to the embryonic disc and is connected to the presumptive midgut of the embryo; the yolk that it contains is the site of embryonic hematopoiesis and vitelline circulation is involved in early embryonic circulation; it is the origin of the primordial germ cells" xsd:string {source="MP:0001718"} property_value: homology_notes "Structures homologous to the four extraembryonic membranes of reptiles and birds appear in mammals: amnion, chorion, yolk sac, and allantois.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000830", ontology="VHOG", source="ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.187", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "consider splitting class" xsd:string property_value: taxon_notes "In therians, a structure homologous to the yolk sac is is present, but contains no yolk platelets. Instead it is filled with fluid [ISBN:0073040584 (Vertebrates, Kardong)]" xsd:string [Term] id: UBERON:0001042 name: chordate pharynx namespace: uberon def: "A portion of the respiratory and digestive tracts; its distal limit is the superior part of the esophagus and it connects the nasal and oral cavities with the esophagus and larynx; it contains the valleculae and the pyriform recesses; its upper limits are the nasal cavity and cranial base.[FEED]." [http://www.feedexp.org] comment: Consider generalizing to deuterostome pharynx subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "pharynx" BROAD SENSU [FMA:46688] xref: AAO:0000967 xref: BTO:0001049 xref: CALOHA:TS-0785 xref: EFO:0000836 xref: EHDAA2:0001458 xref: EHDAA:2947 xref: EMAPA:16706 xref: EV:0100065 xref: FMA:46688 xref: GAID:155 xref: galen:Pharynx xref: MA:0000432 xref: MESH:D010614 xref: NCIT:C12425 xref: SCTID:181211006 xref: TAO:0000056 xref: UMLS:C0031354 {source="ncithesaurus:Pharynx"} xref: VHOG:0000462 xref: Wikipedia:Pharynx xref: XAO:0003227 xref: ZFA:0000056 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0001004 ! respiratory system property_value: axiom_lost_from_external_ontology "relationship type change: part_of_proxy respiratory system (AAO:0000541) CHANGED TO: develops_from respiratory system (UBERON:0001004)[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000967", ontology="AAO"} property_value: axiom_lost_from_external_ontology "relationship type change: part_of_proxy respiratory system (AAO:0000541) CHANGED TO: part_of respiratory system (UBERON:0001004)[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000967", ontology="AAO"} property_value: external_definition "A funnel-shaped fibromuscular tube that conducts food to the ESOPHAGUS, and air to the LARYNYX and LUNGS. It is located posterior to the NASAL CAVITY; ORAL CAVITY; and LARYNX, and extends from the SKULL BASE to the inferior border of the CRICOID CARTILAGE anteriorly and to the inferior border of the C6 vertebra posteriorly. It is divided into the NASOPHARYNX; OROPHARYNX; and HYPOPHARYNX (laryngopharynx)[MESH:A03.867]." xsd:string {source="MESH:A03.867"} property_value: external_definition "Anatomical cavity bounded by the derivatives of the branchial arches.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000967", ontology="AAO", source="AAO:EJS"} property_value: external_definition "Swollen region of the anterior foregut, posterior to the mouth and anterior to the liver; its walls form the jaws and gills. Kimmel et al, 1995.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000056", ontology="TAO", source="ZFIN:curator"} property_value: external_definition "Swollen region of the anterior foregut, posterior to the mouth and anterior to the liver; its walls form the jaws and gills[ZFA:0000056, ZFIN:ZDB-PUB-961014-576]." xsd:string {source="ZFIN:ZDB-PUB-961014-576"} property_value: external_definition "The portion of the alimentary canal between the mouth and the oesophagus. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000462", ontology="VHOG", source="http://bgee.unil.ch/"} property_value: homology_notes "(...) the earliest vertebrates possessed unjointed internal and external branchial arches, and musculature encircling the pharynx.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000462", ontology="VHOG", source="ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) Box essay 13.1 and Box figure I, p.502-503", source="http://bgee.unil.ch/"} property_value: UBPROP:0000012 "MA/FMA pharynx not part of digestive/alimentary system, we are consistent with this scheme" xsd:string {external_ontology="MA"} [Term] id: UBERON:0001043 name: esophagus namespace: uberon def: "Tube that connects the pharynx to the stomach. In mammals, the oesophagus connects the buccal cavity with the stomach. The stratified squamous non-keratinised epithelium lining the buccal cavity is continued through the pharynx down into the oesophagus. The lowest part of the oesophagus (ca. 2 cm) is lined with gastric mucosa and covered by peritoneum. The main body of the oesophagus is lined with small, simple mucous glands. Each gland opens into the lumen by a long duct which pierces the muscularis mucosae (Wilson and Washington, 1989). A sphincter is situated at the point where the oesophagus enters the stomach to prevent gastro-oesophageal reflux, i.e. to prevent acidic gastric contents from reaching stratified epithelia of the oesophagus, where they can cause inflammation and irritation (Wilson and Washington, 1989; Brown et al., 1993)." [http://www.rivm.nl/interspeciesinfo/inter/oesophagus/, Wikipedia:Esophagus] subset: efo_slim subset: major_organ subset: organ_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "gullet" EXACT [] synonym: "oesophagus" EXACT [] xref: AAO:0000145 xref: ANISEED:1235301 xref: BTO:0000959 xref: CALOHA:TS-0700 xref: EFO:0000835 xref: EHDAA2:0001285 xref: EHDAA:2937 xref: EMAPA:16833 xref: EV:0100069 xref: FMA:7131 xref: GAID:291 xref: galen:Esophagus xref: MA:0000352 xref: MAT:0000048 xref: MESH:D004947 xref: MIAA:0000048 xref: NCIT:C12389 xref: SCTID:181245004 xref: TAO:0000204 xref: UMLS:C0014876 {source="ncithesaurus:Esophagus"} xref: VHOG:0000450 xref: Wikipedia:Esophagus xref: XAO:0000127 xref: ZFA:0000204 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0000915 ! thoracic segment of trunk relationship: part_of UBERON:0001007 ! digestive system relationship: part_of UBERON:0002100 ! trunk relationship: part_of UBERON:0004908 ! upper digestive tract property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/d/d4/Illu01_head_neck.jpg xsd:anyURI property_value: external_definition "Anterior end of the alimentary canal lined with smooth muscle. Bounded anteriorly by a constriction in the pharynx. Bounded posteriorly by and increase in circular and/or longitudinal smooth muscle associated with the stomach.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000145", ontology="AAO", source="AAO:EJS"} property_value: has_relational_adjective "esophageal" xsd:string property_value: homology_notes "The few structural specializations in (adult lampreys) pharynx include complex valves on the external gill openings that direct the tidal flow, and the division of the ancestral pharynx into an oesophagus and a respiratory pharynx.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000450", ontology="VHOG", source="DOI:10.1111/j.1096-3642.1996.tb01658.x Mallatt J, Ventilation and the origin of jawed vertebrates: a new mouth. Zoological Journal of the Linnean Society (1996)", source="http://bgee.unil.ch/"} property_value: UBPROP:0000012 "esophagus NOT part of gut in MA. part of gut in ZFA. part_of gut (via UGIT) in FMA. Consider splitting. Interspecies: The human oesophagus is 25 cm long and has a diameter of ca. 2 cm. Only little information was found on the oesophagus in rat, rabbit and pig. The oesophagus of rat (75 x 2 mm) and rabbit has no mucous glands and the cardia of the stomach has a well-developed sphincter, which prevents them from vomiting (Hebel and Stromberg, 1988; Manning et al., 1994). Morphologically the oesophagus is similar in man and pig; both are omnivores and have a non-keratinised epithelium, submucous glands and similar membrane enzymes. Like in humans, pigs can suffer from reflux oesophagitis and stress ulceration of the oesophagus. The pig oesophagus may therefore be a good model for investigation compared to the human oesophagus (Christie et al., 1995)" xsd:string {external_ontology="MA"} [Term] id: UBERON:0001044 name: saliva-secreting gland namespace: uberon def: "Saliva-secreting exocrine glands of the oral cavity[GO]." [GO:0007431, Wikipedia:Salivary_gland] subset: efo_slim subset: functional_classification subset: organ_slim subset: pheno_slim subset: uberon_slim synonym: "glandulae salivariae" RELATED LATIN [Wikipedia:Salivary_gland] synonym: "salivary gland" EXACT [MA:0000346] xref: BTO:0001203 xref: CALOHA:TS-0892 xref: EFO:0000859 xref: EHDAA2:0001775 xref: EHDAA:7987 xref: EMAPA:17751 xref: EV:0100059 xref: FBbt:00005382 xref: FMA:9597 xref: GAID:937 xref: galen:SalivaryGland xref: MA:0000346 xref: MAT:0000079 xref: MESH:D012469 xref: MIAA:0000079 xref: NCIT:C12426 xref: SCTID:181236000 xref: UMLS:C0036098 {source="ncithesaurus:Salivary_Gland"} xref: VHOG:0000376 xref: Wikipedia:Salivary_gland is_a: UBERON:0002530 ! gland relationship: part_of UBERON:0000165 ! mouth relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001007 ! digestive system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/5/51/Illu_quiz_hn_02.jpg xsd:anyURI property_value: external_definition "A gland that produces the saliva. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-25, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000376", ontology="VHOG", source="http://bgee.unil.ch/"} property_value: homology_notes "In air-feeding animals, the lack of water column to lubricate the food has been compensated for by the evolution of the salivary glands. These glands are present only in amniotes and are controlled by the parasympathetic system.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000376", ontology="VHOG", source="ISBN:978-0471210054 Butler AB and Hodos W, Comparative vertebrate neuroanatomy: Evolution and Adaptationm(2005) p.211", source="http://bgee.unil.ch/"} property_value: IAO:0000232 "currently we define saliva and salivary glands very generally in functional terms but it may be more appropriate to split this class. From WP: In most vertebrates, saliva does not contain any enzymes, consisting of mucus and water only, and its primary function is to moisten food while eating. As a result, true salivary glands are rarely found in fish or aquatic tetrapods, although there are often individual mucus-secreting cells. Amphibians have a single salivary gland, the intermaxillary gland, located in the forward part of the palate. Reptiles and birds normally have only very small glands on the lips, palate, and base of the mouth, although there are some birds with large glands, which produce a sticky saliva that helps in nest-building. The distinct parotid, submandibular, and sublingual glands are only developed in mammals." xsd:string {source="3"} property_value: taxon_notes "The salivary glands in mammals are exocrine glands, glands with ducts, that produce saliva. They also secrete amylase, an enzyme that breaks down starch into maltose. In other organisms such as insects, salivary glands are often used to produce biologically important proteins like silk or glues, and fly salivary glands contain polytene chromosomes that have been useful in genetic research. The salivary glands of some species are modified to produce enzymes; salivary amylase is found in many, but by no means all, bird and mammal species (including humans, as noted above). Furthermore, the venom glands of poisonous snakes, Gila monsters, and some shrews, are modified salivary glands" xsd:string [Term] id: UBERON:0001045 name: midgut namespace: uberon def: "Middle subdivision of a digestive tract[CJM]. In vertebrates: The middle part of the alimentary canal from the stomach, or entrance of the bile duct, to, or including, the large intestine[GO]." [GO:0007494, Wikipedia:Midgut] subset: developmental_classification subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "mesenteron" RELATED LATIN [Wikipedia:Midgut] xref: BILA:0000086 xref: BTO:0000863 xref: EFO:0001950 xref: EHDAA2:0001185 xref: EHDAA:983 xref: EMAPA:16255 xref: FBbt:00005383 xref: FMA:45617 xref: MA:0001564 xref: NCIT:C34210 xref: SCTID:361410004 xref: TGMA:0001036 xref: UMLS:C0231052 {source="ncithesaurus:Midgut"} xref: VHOG:0000290 xref: Wikipedia:Midgut xref: XAO:0000103 is_a: UBERON:0000061 ! anatomical structure property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/3/3d/Illu_small_intestine.jpg xsd:anyURI property_value: homology_notes "The bilaterian gut is typically a complete tube that opens to the exterior at both ends. It consists of mouth, foregut, midgut, hindgut, and anus (reference 1); Although all vertebrates have a digestive tract and accessory glands, various parts of this system are not necessarily homologous, analogous, or even present in all species. Therefore, broad comparisons can be best made under the listings of headgut, foregut, midgut, pancreas and biliary system, hindgut (reference 2).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000290", ontology="VHOG", source="ISBN:978-0030259821 Ruppert EE, Fox RS, Barnes RD, Invertebrate zoology: a functional evolutionary approach (2003) p.203, ISBN:978-0521617147 Stevens CE and Hume ID, Comparative physiology of the vertebrate digestive system (2004) p.11", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "Note we define this generically to include invertebrates (partly for consistency with GO), but the class may be split in future. We may explicitly make this a developmental class" xsd:string property_value: taxon_notes "In humans: originates from the foregut at the opening of the bile duct into the duodenum and continues through the small intestine and much of the large intestine until the transition to the hindgut about two-thirds of the way through the transverse colon" xsd:string {source="WP"} property_value: UBPROP:0000012 "in FMA this represents an embryonic region." xsd:string {external_ontology="FMA"} [Term] id: UBERON:0001048 name: primordium namespace: uberon def: "Primordia are populations of contiguous cells that are morphologically distinct and already correspond in extent to a later organ/tissue[FBbt, Hartenstein, V. (2004)]." [BTO:0001886, FB:DJS, FB:FBrf0089570, http://flybase.org/reports/FBrf0178740.html] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "bud" RELATED [] synonym: "future organ" RELATED [] synonym: "placode" RELATED [FBbt:00005495] synonym: "primordia" RELATED PLURAL [XAO:0003043] synonym: "rudiment" RELATED [] xref: AEO:0000171 xref: BTO:0001886 xref: EFO:0001652 xref: EHDAA2:0003171 xref: FBbt:00005495 xref: FMA:86589 xref: MAT:0000482 xref: NCIT:C34275 xref: UMLS:C0678727 {source="ncithesaurus:Primordium"} xref: Wikipedia:Primordium xref: XAO:0003043 is_a: EFO:0001647 ! tissue modifier is_a: UBERON:0001062 ! anatomical entity relationship: part_of UBERON:0000468 ! multicellular organism [Term] id: UBERON:0001051 name: hypopharynx namespace: uberon def: "Bottom part of the pharynx that connects to the esophagus." [Wikipedia:Hypopharynx] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "laryngeal pharynx" EXACT [FMA:54877] synonym: "laryngopharynx" EXACT [FMA:54877] synonym: "pars laryngea pharyngis" RELATED LATIN [BTO:0001740, Wikipedia:Hypopharynx] xref: BTO:0001740 xref: CALOHA:TS-2020 xref: EFO:0001388 xref: EHDAA2:0004574 xref: EV:0100068 xref: FMA:54880 xref: GAID:338 xref: MA:0001796 xref: MESH:D007013 xref: NCIT:C12246 xref: SCTID:281490009 xref: UMLS:C0020629 {source="ncithesaurus:Hypopharynx"} xref: VHOG:0000445 xref: Wikipedia:Hypopharynx is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0001042 ! chordate pharynx property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/4/4a/Illu_pharynx.jpg xsd:anyURI property_value: external_definition "The inferior portion of the pharynx, between the epiglottis and the larynx. [TFD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000445", ontology="VHOG", source="http://bgee.unil.ch/", source="http://medical-dictionary.thefreedictionary.com/hypopharynx"} property_value: has_relational_adjective "hypopharyngeal" xsd:string [Term] id: UBERON:0001052 name: rectum namespace: uberon def: "The terminal portion of the intestinal tube, terminating with the anus." [http://orcid.org/0000-0002-6601-2165, ISBN:0-683-40008-8, MP:0000492] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "intestinum rectum" RELATED [BTO:0001158] synonym: "rectal sac" RELATED [] synonym: "terminal portion of intestine" EXACT [] synonym: "terminal portion of large intestine" RELATED [] xref: AAO:0010401 xref: BTO:0001158 xref: CALOHA:TS-1180 xref: EFO:0000848 xref: EHDAA2:0001592 xref: EHDAA:5836 xref: EMAPA:17896 xref: EV:0100081 xref: FMA:14544 xref: GAID:311 xref: galen:Rectum xref: MA:0000336 xref: MAT:0000050 xref: MESH:D012007 xref: MIAA:0000050 xref: NCIT:C12390 xref: SCTID:181261002 xref: UMLS:C0034896 {source="ncithesaurus:Rectum"} xref: VHOG:0001751 xref: Wikipedia:Rectum xref: XAO:0000238 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000059 ! large intestine property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/7/75/Anorectum.gif xsd:anyURI property_value: external_definition "The terminal portion of the large intestine between the ileo-pelvic colon and the anus. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001751", ontology="VHOG", source="http://bgee.unil.ch/"} property_value: has_relational_adjective "rectal" xsd:string property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "In the lungfish, sharks and rays the rectum opens into the cloaca which also receives wastes (urine) from the kidneys and material from the reproductive organs. In bony fish the rectum reaches the outside environment through the anus, which is normally situated just in front the urinary and reproductive openings. However in some fish the digestive tract may be curled back on itself, and in the Electric Eel (Electrophorus electricus) the anus is situated in the fish's throat. -- http://www.earthlife.net/fish/digestion.html" xsd:string [Term] id: UBERON:0001053 name: arthropod neurohemal organ namespace: uberon def: "A system of neurons that has the specialized function to produce and secrete hormones, and that constitutes, in whole or in part, an endocrine organ or system." [BTO:0002106] comment: brain areas from which substances enter blood for example, the neurohypophysis from which oxytocin and vasopressin enter blood. subset: efo_slim subset: organ_slim synonym: "neurohaemal organ" RELATED [] xref: BTO:0002106 xref: EFO:0000864 xref: FBbt:00005757 xref: MAT:0000212 xref: MIAA:0000212 is_a: UBERON:0002368 ! endocrine gland relationship: part_of UBERON:0001016 ! nervous system property_value: UBPROP:0000012 "currently intended for invert structure; alt definitions include: organs in which intimate relationships between axons and terminal blood vessels are established" xsd:string [Term] id: UBERON:0001054 name: Malpighian tubule namespace: uberon def: "A tubule that extends from the posterior part of the digestive tract which absorbs solutes, water, and wastes from the surrounding hemolymph. Each tubule consists of a single layer of cells that is closed off at the distal end with the proximal end joining the alimentary canal at the junction between the midgut and hindgut[WP,modified]." [Wikipedia:Malpighian_tubule_system] subset: efo_slim subset: uberon_slim synonym: "Malphigian tube" RELATED MISSPELLING [BTO:0000810] synonym: "Malpighian tube" RELATED [UBERON:cjm] synonym: "tuba Malpighii" RELATED [BTO:0000810] xref: BTO:0000810 xref: EFO:0000243 xref: FBbt:00005786 xref: GAID:1228 xref: MAT:0000123 xref: MESH:D008317 xref: MIAA:0000123 xref: SCTID:41055008 xref: TADS:0000163 xref: TGMA:0001038 xref: Wikipedia:Malpighian_tubule is_a: UBERON:0000483 ! epithelium relationship: part_of UBERON:0001008 ! renal system property_value: IAO:0000116 "this will be ceded to the Arthropod Anatomy Ontology" xsd:string property_value: taxon_notes "It is unclear as to whether the Malpighian tubules of arachnids and those of the Uniramia are homologous or the result of convergent evolution.[Wikipedia:Malpighian_tubule_system]" xsd:string [Term] id: UBERON:0001056 name: corpus cardiacum namespace: uberon def: "One of a pair of neurohemal organs located on the walls of the aorta just behind the brain. The corpora cardiaca release their store of PTTH only after they receive a signal from neurosecretory cells in the brain." [BTO:0000432, http://en.wikipedia.org/wiki/Corpus_cardiacum#Endocrine_system, http://www.cals.ncsu.edu/course/ent425/tutorial/endocrine.html] comment: will be ceded to arthropod anatomy ontology subset: efo_slim synonym: "corpora cardiaca" RELATED PLURAL [BTO:0000432] xref: BTO:0000432 xref: EFO:0000380 xref: FBbt:00005799 xref: MAT:0000211 xref: MIAA:0000211 is_a: UBERON:0001053 ! arthropod neurohemal organ [Term] id: UBERON:0001057 name: corpus allatum namespace: uberon def: "One of a pair of separate or fused bodies in many insects that are sometimes closely associated with the corpora cardiaca and that secrete hormones (as juvenile hormone)[BTO]." [BTO:0000291, http://en.wikipedia.org/wiki/Corpora_allata, http://www.cals.ncsu.edu/course/ent425/tutorial/endocrine.html] comment: will be ceded to arthropod anatomy ontology subset: efo_slim subset: uberon_slim synonym: "corpora allata" RELATED PLURAL [BTO:0000291] xref: BTO:0000291 xref: EFO:0000379 xref: FBbt:00005800 xref: MAT:0000210 xref: MESH:D003335 xref: MIAA:0000210 is_a: UBERON:0002368 ! endocrine gland property_value: taxon_notes "In Lepidoptera species, the corpus allatum acts as a release site for prothoracicotropic hormone which is generated by the brain" xsd:string property_value: taxon_notes "In many Diptera species, the corpus allatum is fused with the corpus cardiacum, forming Weismann's ring" xsd:string [Term] id: UBERON:0001058 name: mushroom body namespace: uberon def: "Prominent lobed neuropils found in annelids and all arthropods except crustaceans. They are thought to be involved in olfactory associative learning and memory[MESH] Mushroom body neuropils are divided into calyces, pedunculus, and its subsequent lobes. In Drosophila these are the alpha, beta, and gamma lobes." [http://flybrain.uni-freiburg.de/Flybrain/html/terms/terms.html, MESH:A13.641, Wikipedia:Mushroom_body] subset: efo_slim subset: uberon_slim synonym: "corpora pedunculata" RELATED [FBbt:00005801, PMID:21062451] synonym: "mushroom bodies" EXACT PLURAL [] xref: BTO:0002675 xref: EFO:0000925 xref: FBbt:00005801 xref: GAID:1231 xref: MAT:0000336 xref: MESH:D024521 xref: MIAA:0000336 xref: Wikipedia:Mushroom_body is_a: UBERON:0001062 ! anatomical entity relationship: never_in_taxon NCBITaxon:6217 relationship: part_of UBERON:0000955 ! brain property_value: RO:0002175 NCBITaxon:6340 property_value: RO:0002175 NCBITaxon:6656 property_value: taxon_notes "Also in annelids. 'Comparison to the vertebrate pallium reveals that the annelid mushroom bodies develop from similar molecular coordinates within a conserved overall molecular brain topology and that their development involves conserved patterning mechanisms and produces conserved neuron types that existed already in the proto- stome-deuterostome ancestors. These data indicate deep homology of pallium and mushroom bodies and date back the origin of higher brain centers to prebilaterian times'" xsd:string {source="PMID:20813265"} [Term] id: UBERON:0001059 name: pars intercerebralis namespace: uberon def: "A neurosecretory center of the insect brain, located along the anterior midline[wiktionary]. A medial cleft or depression dividing the left and right protocerebrum and containing numerous large and small somata of neurosecretory and neuromodulatory neurons[FBbt]." [http://en.wiktionary.org/wiki/pars_intercerebralis, http://flybrain.uni-freiburg.de/Flybrain/html/terms/terms.html] comment: will be ceded to arthropod anatomy ontology subset: efo_slim subset: uberon_slim xref: EFO:0000926 xref: FBbt:00005802 xref: MAT:0000337 xref: MIAA:0000337 is_a: EFO:0003334 ! Drosophila component relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001017 ! central nervous system [Term] id: UBERON:0001062 name: anatomical entity namespace: uberon def: "Biological entity that is either an individual member of a biological species or constitutes the structural organization of an individual member of a biological species." [FMA:62955, http://orcid.org/0000-0001-9114-8737] subset: common_anatomy subset: upper_level xref: AAO:0010841 xref: AEO:0000000 xref: BILA:0000000 xref: BIRNLEX:6 xref: CARO:0000000 xref: EHDAA2:0002229 xref: FBbt:10000000 xref: FMA:62955 xref: HAO:0000000 xref: MA:0000001 xref: NCIT:C12219 xref: TAO:0100000 xref: TGMA:0001822 xref: UMLS:C1515976 {source="ncithesaurus:Anatomic_Structure_System_or_Substance"} xref: WBbt:0000100 xref: XAO:0000000 xref: ZFA:0100000 is_a: EFO:0000635 ! organism part property_value: RO:0002175 NCBITaxon:33090 property_value: RO:0002175 NCBITaxon:33208 property_value: RO:0002175 NCBITaxon:4751 [Term] id: UBERON:0001066 name: intervertebral disk namespace: uberon def: "A pad of fibrocartilage between the articular surfaces of two successive vertebral centra which has nucleus pulposus at its core." [ISBN:0073040584, Wikipedia:Intervertebral_disk] comment: whose gel-like core is nucleus puloposus, by this definition only in mammals subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "discus intervertebralis" EXACT LATIN [FMA:10446, FMA:TA] synonym: "intervertebral disc" EXACT [] synonym: "intervertebral fibrocartilage" RELATED [BTO:0003625] synonym: "spinal disc" EXACT [Wikipedia:Spinal_disc] synonym: "spinal disk" RELATED [BTO:0003625] xref: BTO:0003625 xref: EFO:0001370 xref: EMAPA:32739 xref: FMA:10446 xref: GAID:105 xref: MA:0000110 xref: MESH:D007403 xref: NCIT:C49571 xref: SCTID:244570000 xref: UMLS:C0021815 {source="ncithesaurus:Intervertebral_Disc"} xref: Wikipedia:Intervertebral_disk is_a: EFO:0001369 ! vertebral column structure relationship: part_of EFO:0001369 ! vertebral column structure relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001434 ! skeletal system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/9/92/Gray301.png xsd:anyURI property_value: taxon_notes "strictly speaking the term intervertebral disk [applies to intervertebral cartilage]" xsd:string [Term] id: UBERON:0001069 name: head of pancreas namespace: uberon def: "The head of pancreas is a portion of the pancreas that is lodged within the curve of the duodenum, and is flattened anteriorly (from before). The other parts of the pancreas are the body and the tail. Its upper border is overlapped by the superior part of the duodenum and its lower overlaps the horizontal part; its right and left borders overlap in front, and insinuate themselves behind, the descending and ascending parts of the duodenum respectively. [WP,unvetted]." [Wikipedia:Head_of_pancreas] subset: human_reference_atlas subset: uberon_slim synonym: "caput pancreatis" RELATED LATIN [Wikipedia:Head_of_pancreas] synonym: "pancreas head" EXACT [] synonym: "pancreatic head" EXACT [] synonym: "right extremity of pancreas" EXACT [] xref: EHDAA2:0001374 xref: EMAPA:17507 xref: FMA:10468 xref: MA:0000122 xref: NCIT:C12269 xref: SCTID:362201006 xref: UMLS:C0227579 {source="ncithesaurus:Head_of_the_Pancreas"} xref: VHOG:0000448 xref: Wikipedia:Head_of_pancreas is_a: EFO:0003861 ! pancreactic component relationship: part_of UBERON:0001264 ! pancreas property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/f/fe/Illu_pancreas_duodenum.jpg xsd:anyURI property_value: homology_notes "Hagfish and lampreys may have one or more endocrine buds - and later the vertebrate pancreas develop as independent ventral and dorsal buds that eventually fuse to become one organ.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000448", ontology="VHOG", source="DOI:10.1016/j.crvi.2007.03.006 Madsen OD, Pancreas phylogeny and ontogeny in relation to a 'pancreatic stem cell'. Comptes Rendus Biologies (2007)", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001070 name: external carotid artery namespace: uberon def: "A terminal branch of the left or right common carotid artery which supplies oxygenated blood to to the throat, neck glands, tongue, face, mouth, ear, scalp and dura mater of the meninges[MP]." [MGI:anna] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "arteria carotis externa" RELATED LATIN [Wikipedia:External_carotid_artery] synonym: "external carotid" EXACT [AAO:0010218] xref: AAO:0010218 xref: AAO:0010416 xref: BTO:0004696 xref: EFO:0001953 xref: EHDAA2:0000461 xref: EMAPA:18611 xref: FMA:10635 xref: GAID:480 xref: MA:0001929 xref: MESH:D002342 xref: NCIT:C32551 xref: SCTID:362044002 xref: UMLS:C0007275 {source="ncithesaurus:External_Carotid_Artery"} xref: VHOG:0000265 xref: Wikipedia:External_carotid_artery xref: XAO:0000345 is_a: UBERON:0005396 ! carotid artery segment property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/1/13/External_carotid_a.gif xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 property_value: seeAlso https://sourceforge.net/tracker/?func=detail&aid=3486863&group_id=76834&atid=1127722 xsd:anyURI property_value: taxon_notes "not homologous to the external carotid of zebrafish (Goodrich, 1958) - http://zfish.nichd.nih.gov/zfatlas/Intro%20Page/comparative.html; check XAO" xsd:string [Term] id: UBERON:0001083 name: myocardium of ventricle namespace: uberon def: "Muscular layer of the cardiac ventricle composed of a compact myocardial layer surrounding the trabecular layer." [ZFIN:curator] subset: efo_slim subset: pheno_slim subset: vertebrate_core synonym: "ventricle cardiac muscle" RELATED [VHOG:0000604] synonym: "ventricle myocardium" EXACT [] synonym: "ventricular myocardium" EXACT [] xref: EFO:0003088 xref: EMAPA:32748 xref: FMA:12151 xref: MA:0000082 xref: SCTID:192084000 xref: TAO:0005061 xref: VHOG:0000604 xref: ZFA:0005061 is_a: UBERON:0002349 ! myocardium intersection_of: UBERON:0002349 ! myocardium intersection_of: part_of UBERON:0002082 ! cardiac ventricle relationship: part_of UBERON:0002082 ! cardiac ventricle property_value: external_definition "Muscular layer of the cardiac ventricle composed of a compact myocardial layer surrounding the trabecular layer Hu et al. 2001.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0005061", ontology="TAO", source="ZFIN:curator"} property_value: homology_notes "As noted, the hearts of birds and mammals have four chambers that arises from the two chambers (atrium and ventricle) of the fish heart.[uncertain][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000604", ontology="VHOG", source="ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.481", source="http://bgee.unil.ch/"} [Term] id: UBERON:0001088 name: urine namespace: uberon def: "Excretion that is the output of a kidney." [https://github.com/geneontology/go-ontology/issues/11025, Wikipedia:Urine] subset: efo_slim subset: pheno_slim subset: uberon_slim xref: BTO:0001419 xref: CALOHA:TS-1092 xref: EFO:0001939 xref: EMAPA:36554 xref: ENVO:00002047 xref: FMA:12274 xref: GAID:1189 xref: galen:Urine xref: MA:0002545 xref: MAT:0000058 xref: MESH:D014556 xref: MIAA:0000058 xref: NCIT:C13283 xref: UMLS:C0042036 {source="ncithesaurus:Urine"} xref: Wikipedia:Urine is_a: UBERON:0000174 ! excreta property_value: taxon_notes "kidney excreta from some taxa (e.g. in aves) may not be liquid" xsd:string [Term] id: UBERON:0001091 name: calcareous tooth namespace: uberon def: "Skeletal element within the mouth (or in some species, upper part of the digestive tract) that is composed of dentine and is used in procuring or masticating food." [http://orcid.org/0000-0002-6601-2165, Wikipedia:Tooth_(animal)] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "dental element" EXACT [http://orcid.org/0000-0002-6601-2165] synonym: "dentine containing tooth" EXACT [] synonym: "tooth" EXACT [] synonym: "vertebrate tooth" EXACT [] xref: AEO:0000220 xref: BTO:0000397 xref: CALOHA:TS-1055 xref: EFO:0000839 xref: EHDAA2:0004605 xref: EMAPA:32906 xref: EV:0100063 xref: FMA:12516 xref: GAID:1260 xref: MA:0000348 xref: MAT:0000041 xref: MESH:D014070 xref: MIAA:0000041 xref: NCIT:C12506 xref: SCTID:302214001 xref: TAO:0001625 xref: UMLS:C0040426 {source="ncithesaurus:Tooth"} xref: VHOG:0001733 xref: Wikipedia:Tooth xref: XAO:0000431 xref: ZFA:0000694 is_a: EFO:0003858 ! skeleton structure relationship: never_in_taxon NCBITaxon:189497 {source="Wikipedia"} relationship: never_in_taxon NCBITaxon:8782 relationship: never_in_taxon NCBITaxon:9257 {source="PMID:10210685"} relationship: never_in_taxon NCBITaxon:9761 relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001434 ! skeletal system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/1/14/Teeth_by_David_Shankbone.jpg xsd:anyURI property_value: has_relational_adjective "dental" xsd:string property_value: homology_notes "The ancestor of recent vertebrate teeth was a tooth-like structure on the outer body surface of jawless fishes.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001733", ontology="VHOG", source="PMID:19266065 Koussoulakou DS, Margaritis LH, Koussoulakos SL, A curriculum vitae of teeth: evolution, generation, regeneration. International Journal of Biological Sciences (2009)", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "we place ZFA ctb 5 tooth here for now. Consider changing name from calcaeeous tooth. Note that sea cucumbers develop calcareous tooth-like structures" xsd:string property_value: taxon_notes "absent in living platypus, present in toothed Miocene platypus Obduron dicksoni" xsd:string {source="PMID:10210685"} [Term] id: UBERON:0001103 name: diaphragm namespace: uberon def: "A thin musculomebranous barrier that separates the abdominal and thoracic cavities. Often used for breathing control." [MP:0002279] subset: efo_slim subset: organ_slim subset: pheno_slim subset: uberon_slim synonym: "diaphragm muscle" EXACT [BTO:0000341] synonym: "diaphragm of thorax" EXACT [] synonym: "midriff" RELATED [BTO:0000341] synonym: "phren" RELATED [BTO:0000341] synonym: "thoracic diaphragm" EXACT [] xref: BTO:0000341 xref: CALOHA:TS-0198 xref: EFO:0000937 xref: EHDAA2:0003495 xref: EMAPA:17701 xref: EV:0100376 xref: FMA:13295 xref: GAID:158 xref: MA:0001904 xref: MAT:0000502 xref: MESH:D003964 xref: NCIT:C12702 xref: SCTID:181614006 xref: UMLS:C0011980 {source="ncithesaurus:Diaphragm"} xref: VHOG:0000713 xref: Wikipedia:Thoracid_diaphragm is_a: UBERON:0001774 ! skeletal muscle of trunk relationship: never_in_taxon NCBITaxon:8782 {source="Wikipedia:Thoracic_diaphragm#Comparative_anatomy_and_evolution"} relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0000915 ! thoracic segment of trunk relationship: part_of UBERON:0001004 ! respiratory system relationship: part_of UBERON:0001015 ! musculature relationship: part_of UBERON:0002100 ! trunk property_value: external_definition "The diaphragm is a skeletal muscle that is responsible for contraction and expansion of the lungs[GO]." xsd:string {source="GO:0060539"} property_value: has_relational_adjective "phrenic" xsd:string property_value: homology_notes "The mammals are characterized by a diaphragm, which separates the thoracic portion of the body cavity from the abdominal region and assists in drawing air into the lungs and forcing it out. Modern reptiles lack a muscular diaphragm and it is reasonable to suppose that the diaphragm developed as a new device that made possible a large degree of oxygen intake for active animals. The change may have taken place during the transition from reptile to mammal (...).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000713", ontology="VHOG", source="ISBN:978-0471384618 Colbert EH, Evolution of the vertebrates: a history of the backboned animals through time (2001) p.278", source="http://bgee.unil.ch/"} property_value: taxon_notes "The existence of some membrane separating the pharynx from the stomach can be traced widely among the chordates. Thus amphioxus possesses an atrium by which water exits the pharynx, which has been argued (and disputed) to be homologous to structures in ascidians and hagfishes.[3]" xsd:string property_value: taxon_notes "The urochordate epicardium separates digestive organs from the pharynx and heart, but the anus returns to the upper compartment to discharge wastes through an outgoing siphon (Thoracic_diaphragm#Comparative_anatomy_and_evolution)" xsd:string property_value: UBPROP:0000009 "barrier between thoracic and abdominal cavities; stop gastric contents from refluxing into the oesophagus" xsd:string property_value: UBPROP:0000009 "breathing control" xsd:string property_value: UBPROP:0000011 "originate from the cervical somites, likely C3-C5[PMID:23586979]" xsd:string [Term] id: UBERON:0001111 name: intercostal muscle namespace: uberon def: "The respiratory muscles that arise from the lower border of one rib and insert into the upper border of the adjoining rib." [MESH:A02.633.567.900.500, MGI:csmith, MP:0002280] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "intercostales" RELATED [] synonym: "musculus intercostalis" EXACT LATIN [FMA:13354, FMA:TA] synonym: "respiratory muscle" RELATED [] synonym: "rib muscle" RELATED [] xref: BTO:0005281 xref: EFO:0001368 xref: EHDAA2:0000841 xref: EHDAA:5988 xref: EMAPA:18521 xref: FMA:13354 xref: GAID:159 xref: MA:0002324 xref: MA:0003165 xref: MESH:D007366 xref: NCIT:C32824 xref: SCTID:181746004 xref: UMLS:C0021724 {source="ncithesaurus:Intercostal_Muscle"} xref: VHOG:0000903 xref: Wikipedia:Intercostal_muscle is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0000915 ! thoracic segment of trunk relationship: part_of UBERON:0001015 ! musculature relationship: part_of UBERON:0001443 ! chest relationship: part_of UBERON:0002100 ! trunk property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/f/f2/Gray411.png xsd:anyURI property_value: homology_notes "Inspiration by active expansion of the thorax evolved later, in the ancestor of reptiles, birds, and mammals. This was powered originally by the intercostal muscles (as in lizards or crocodilians) and later (in mammals only) by a muscular diaphragm.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000903", ontology="VHOG", source="ISBN:978-0262112789 Kent RD, The MIT Encyclopedia of Communication Disorders (20039 p.56", source="http://bgee.unil.ch/"} [Term] id: UBERON:0001114 name: right lobe of liver namespace: uberon def: "The right lobe is much larger than the left; the proportion between them being as six to one. It occupies the right hypochondrium, and is separated from the left lobe on its upper surface by the falciform ligament; on its under and posterior surfaces by the left sagittal fossa; and in front by the umbilical notch. It is of a somewhat quadrilateral form, its under and posterior surfaces being marked by three fossæ: the porta and the fossæ for the gall-bladder and inferior vena cava, which separate its left part into two smaller lobes; the quadrate and caudate lobes. [WP,unvetted]." [Wikipedia:Right_lobe_of_liver] subset: uberon_slim subset: vertebrate_core synonym: "2nd lobe" RELATED [TAO:0005173] synonym: "gall bladder lobe" RELATED SENSU [ZFA:0005173] synonym: "liver right lobe" EXACT [] synonym: "lobus hepaticus dexter" EXACT LATIN [] synonym: "lobus hepatis dexter" RELATED LATIN [Wikipedia:Right_lobe_of_liver] synonym: "right hepatic lobe" RELATED [EMAPA:18311] synonym: "right liver lobe" EXACT [ZFA:0005173] synonym: "second lobe" RELATED [TAO:0005173] xref: EHDAA2:0001008 xref: EHDAA:4001 xref: EMAPA:18311 xref: FMA:13362 xref: MA:0000363 xref: NCIT:C33481 xref: SCTID:362182008 xref: TAO:0005173 xref: UMLS:C0227481 {source="ncithesaurus:Right_Lobe_of_the_Liver"} xref: VHOG:0001424 xref: Wikipedia:Right_lobe_of_liver xref: ZFA:0005173 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0002107 ! liver property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/a/a3/Gray1087-liver.png xsd:anyURI property_value: external_definition "Portion of the liver which develops on the fish's right side adjacent to the gall bladder.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0005173", ontology="TAO", source="ZFIN:curator"} [Term] id: UBERON:0001115 name: left lobe of liver namespace: uberon def: "The left lobe is smaller and more flattened than the right. It is situated in the epigastric and left hypochondriac regions. Its upper surface is slightly convex and is moulded on to the diaphragm; its under surface presents the gastric impression and omental tuberosity. [WP,unvetted]." [Wikipedia:Left_lobe_of_liver] subset: uberon_slim subset: vertebrate_core synonym: "left hepatic lobe" RELATED [EMAPA:18307] synonym: "left liver lobe" EXACT [] synonym: "liver left lobe" EXACT [] synonym: "lobus hepaticus sinister" EXACT LATIN [] synonym: "lobus hepatis sinister" RELATED LATIN [Wikipedia:Left_lobe_of_liver] xref: EHDAA2:0001000 xref: EHDAA:3995 xref: EMAPA:18307 xref: FMA:13363 xref: MA:0000361 xref: NCIT:C32965 xref: SCTID:362183003 xref: TAO:0005172 xref: UMLS:C0227486 {source="ncithesaurus:Left_Lobe_of_the_Liver"} xref: VHOG:0001423 xref: Wikipedia:Left_lobe_of_liver xref: ZFA:0005172 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0002107 ! liver property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/a/a3/Gray1087-liver.png xsd:anyURI property_value: external_definition "Portion of the liver which develops on the fish's left side.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0005172", ontology="TAO", source="ZFIN:curator"} [Term] id: UBERON:0001132 name: parathyroid gland namespace: uberon def: "The parathyroid gland is an endocrine gland for secretion of parathyroid hormone, usually found as a pair, embedded in the connective tissue capsule on the posterior surface of the thyroid gland. Parathyroid regulates calcium and phosphorous metabolism." [ISBN:0-683-40008-8, MP:0000678, Wikipedia:Parathyroid_gland] subset: organ_slim subset: pheno_slim subset: uberon_slim synonym: "epithelial body" RELATED [XAO:0000167] synonym: "parathyroid" EXACT [] synonym: "parathyroid secreting cell" RELATED [] xref: AAO:0010545 xref: BTO:0000997 xref: CALOHA:TS-0745 xref: EFO:0000862 xref: EMAPA:32812 xref: EV:0100134 xref: FMA:13890 xref: GAID:452 xref: MA:0000128 xref: MAT:0000082 xref: MESH:D010280 xref: MIAA:0000082 xref: NCIT:C12765 xref: SCTID:181121007 xref: UMLS:C0030518 {source="ncithesaurus:Parathyroid_Gland"} xref: VHOG:0001188 xref: Wikipedia:Parathyroid_gland xref: XAO:0000167 is_a: UBERON:0002368 ! endocrine gland relationship: part_of UBERON:0000949 ! endocrine system property_value: external_definition "Any one of several small structures, usually four, attached to the dorsal surfaces of the lateral lobes of the thyroid gland. [TFD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001188", ontology="VHOG", source="http://bgee.unil.ch/", source="http://medical-dictionary.thefreedictionary.com/parathyroid+gland"} property_value: external_definition "Either of the two pairs of small, spherical, encapsulated glands which develop from ventral growths of the third and fourth pharyngeal pouches and are closely associated with the external jugular veins. Calcitonin and parathyroid hormone are secreted by these glands.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010545", ontology="AAO", source="AAO:BJB"} property_value: homology_notes "The evolution of the tetrapods, and the shift from an aquatic to a terrestrial environment, was believed to have required new controls for regulating calcium homeostasis, and thus the evolution of parathyroid glands (...) both the tetrapod parathyroid and the gills of fish contribute to the regulation of extracellular calcium levels. It is therefore reasonable to suggest that the parathyroid gland evolved as a result of the transformation of the gills into the parathyroid glands of tetrapods and the transition from an aquatic to a terrestrial environment. This interpretation would also explain the positioning of the parathyroid gland within the pharynx in the tetrapod body. Were the parathyroid gland to have emerged de novo with the evolution of the tetrapods it could, as an endocrine organ, have been placed anywhere in the body and still exert its effect.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001188", ontology="VHOG", source="DOI:10.1111/j.1469-7580.2005.00472.x Graham A, Okabe M, Quinlan R, The role of the endoderm in the development and evolution of the pharyngeal arches. J Anat (2005)", source="http://bgee.unil.ch/"} property_value: taxon_notes "Parathyroid glands are found in all adult tetrapods, although they vary in their number, and in their exact position. Mammals typically have four parathyroids, while other groups typically have six. Fish do not possess parathyroid glands, although the ultimobranchial glands, which are found close to the oesophagus, may have a similar function and could even be homologous with the tetrapod parathyroids. Even these glands are absent in the most primitive vertebrates, the jawless fish, but as these species have no bone in their skeletons, only cartilage, it may be that they have less need to regulate calcium metabolism. The conserved homology of genes and calcium-sensing receptors in fish gills with those in the parathryroid glands of birds and mammals is recognized by evolutionary developmental biology as evolution-using genes and gene networks in novel ways to generate new structures with some similar functions and novel functions[WP]" xsd:string property_value: UBPROP:0000011 "In humans and chick it emerges from pouches 3 and 4, but in mice it is exclusively generated by the third pouch" xsd:string property_value: UBPROP:0000011 "table 13.1 of Kardong is used to create the taxon-specific developmental relationships here, although some omissions are made for simplicity." xsd:string {source="PMID:16313389"} [Term] id: UBERON:0001134 name: skeletal muscle tissue namespace: uberon def: "Muscle tissue that consists primarily of skeletal muscle fibers." [https://github.com/obophenotype/uberon/issues/324] subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "skeletal muscle" BROAD [] synonym: "skeletal muscle system" RELATED [BTO:0001103] synonym: "somatic muscle" RELATED [BTO:0001103] xref: EMAPA:32716 xref: FMA:14069 xref: MA:0002439 xref: NCIT:C13050 xref: SCTID:426215008 xref: UMLS:C0242692 {source="ncithesaurus:Skeletal_Muscle_Tissue"} xref: Wikipedia:Skeletal_striated_muscle is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0001015 ! musculature relationship: part_of UBERON:0014892 ! skeletal muscle organ property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/c/c0/Skeletal_muscle.jpg xsd:anyURI property_value: external_definition "Muscle, composed of long cylindrical, multinucleated cells that attaches to the skeleton via tendons.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0005277", ontology="TAO", source="ZFIN:curator"} property_value: external_definition "Tissue which consists of skeletal muscle fibers surrounded by endomysium. Examples: Skeletal muscle tissue of biceps, Skeletal muscle tissue of diaphragm[FMA]" xsd:string {external_class="FMA:14069", ontology="FMA"} property_value: homology_notes "This result implies the following views in terms of evolutionary differentiation: (1) Arthropod striated muscle and vertebrate skeletal and cardiac muscles share a common ancestor. In other words, they did not evolve independently (...) (5) The divergence of vertebrate skeletal and cardiac muscles/vertebrate smooth muscle and nonmuscle is at least before that of vertebrates/arthropods. In other words, emergence of skeletal and cardiac musle type tissues preceded the vertebrate/arthropod divergence (ca. 700 MYA).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000319", ontology="VHOG", source="PMID:10368962 Oota S, Saitou N, Phylogenetic relationship of muscle tissues deduced from superimposition of gene trees. Mol Biol Evol (1999)", source="http://bgee.unil.ch/"} property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/cmungall property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/dosumis property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/mellybelly property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/RDruzinsky property_value: IAO:0000116 "TODO - add skeletal muscle organ? See GO:0060538 skeletal muscle organ development. Todo - group FBbt:00005073 - somatic muscle." xsd:string [Term] id: UBERON:0001135 name: smooth muscle tissue namespace: uberon def: "Muscle tissue which is unstriated, composed primarily of smooth muscle fibers surrounded by a reticulum of collagen and elastic fibers. Smooth muscle differs from striated muscle in the much higher actin/myosin ratio, the absence of conspicuous sarcomeres and the ability to contract to a much smaller fraction of its resting length[GO]." [GO:0006939, Wikipedia:Smooth_muscle_tissue] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "involuntary muscle" EXACT [] synonym: "non-striated muscle" EXACT [] synonym: "smooth muscle" EXACT [] synonym: "textus muscularis levis; textus muscularis nonstriatus" RELATED LATIN [Wikipedia:Smooth_muscle_tissue] synonym: "textus muscularis nonstriatus" EXACT LATIN [FMA:14070, FMA:TA] synonym: "visceral muscle" NARROW SENSU [] synonym: "visceral muscle tissue" NARROW SENSU [] xref: AAO:0010244 xref: AEO:0000141 xref: BTO:0001260 xref: CALOHA:TS-0943 xref: EFO:0000889 xref: EHDAA2:0003141 xref: EMAPA:32717 xref: EV:0100378 xref: FMA:14070 xref: GAID:167 xref: galen:SmoothMuscle xref: galen:SmoothMuscleTissue xref: MA:0000166 xref: MAT:0000303 xref: MESH:D009130 xref: MIAA:0000303 xref: NCIT:C12437 xref: TAO:0005274 xref: UMLS:C1267092 {source="ncithesaurus:Smooth_Muscle_Tissue"} xref: VHOG:0001246 xref: WBbt:0005781 xref: Wikipedia:Smooth_muscle_tissue xref: XAO:0000175 xref: ZFA:0005274 is_a: EFO:0000889 ! smooth muscle relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0001015 ! musculature property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/3/3b/Glatte_Muskelzellen.jpg xsd:anyURI property_value: external_definition "A non-striated muscle that is composed of spindle-shaped cells. Smooth muscle usually is organized into sheets that line cavitated organs.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0005274", ontology="TAO", source="ZFIN:curator"} property_value: external_definition "Involuntary muscle tissue consisting of uninucleate spindle-shaped fibers.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010244", ontology="AAO", source="AAO:CAM"} property_value: homology_notes "(...) the first bilateral animals possessed only smooth muscles with the molecular repertoire necessary to build a striated muscle. (...) it is more parsimonious to regard striated muscle cells as a sister cell type to the smooth muscle cells. In this scenario, striated and smooth muscles would have arisen in the stem lineage that led to the Nephrozoa (i.e. all Bilateria exclusive the acoelomorphs) (Hejnol et al., 2009), from an 'acoel-like' smooth muscle, by segregation and divergence of functions and through differential recruitment of additional genes[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001246", ontology="VHOG", source="DOI:10.1002/jez.b.21416 Chiodin M, Achatz JG, Wanninger A, Martinez P, Molecular architecture of muscles in an acoel and its evolutionary implications. Journal of Experimental Zoology (2011)", source="http://bgee.unil.ch/"} property_value: UBPROP:0000013 "GO uses visceral and smooth interchangeably. However visceral can also be used in the sense of the viscera. Many fly annotations to smooth muscle terms. If we want to be inclusive of insects have to have a general definition of tissue that includes cells." xsd:string [Term] id: UBERON:0001137 name: dorsum namespace: uberon def: "A major subdivision of an organism that is the entire part of the organism dorsal to a horizontal plane and bounded on one side by the same transverse plane. In vertebrares this includes the vertebral column.." [BSPO:0000063, UBERONREF:0000006, Wikipedia:Dorsum_(anatomy)] subset: efo_slim subset: uberon_slim synonym: "back" EXACT [FMA:14181] synonym: "back of body proper" EXACT [FMA:14181] synonym: "dorsal part of organism" EXACT [] xref: BTO:0001713 xref: CALOHA:TS-2223 xref: EFO:0001405 xref: FMA:14181 xref: GAID:30 xref: galen:Back xref: MESH:D001415 xref: NCIT:C13062 xref: SCTID:123961009 xref: UMLS:C0004600 {source="ncithesaurus:Back"} xref: Wikipedia:Dorsum_(anatomy) is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000468 ! multicellular organism property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/e/ee/432px-Gray-back.PNG xsd:anyURI property_value: has_relational_adjective "dorsal" xsd:string property_value: taxon_notes "In humans, called the back, a large posterior area of the human body, rising from the top of the buttocks to the back of the neck and the shoulders. It is the surface opposite to the chest, its height being defined by the vertebral column (commonly referred to as the spine or backbone) and its breadth being supported by the ribcage and shoulders. The spinal canal runs through the spine and provides nerves to the rest of the body" xsd:string [Term] id: UBERON:0001143 name: hepatic vein namespace: uberon def: "Vein that carries blood away from the liver[ZFA]." [https://sourceforge.net/tracker/?func=detail&aid=3565355&group_id=76834&atid=1205376, Wikipedia:Hepatic_vein, ZFA:0000670] subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "hepatic veins" RELATED PLURAL [] synonym: "liver vein" EXACT [OBOL:automatic] synonym: "vein of liver" EXACT [OBOL:automatic] synonym: "vena hepatica" EXACT LATIN [] synonym: "venae hepaticae" RELATED LATIN [Wikipedia:Hepatic_vein] xref: AAO:0010216 xref: EMAPA:19221 xref: FMA:14337 xref: GAID:534 xref: galen:HepaticVein xref: MA:0003015 xref: MESH:D006503 xref: NCIT:C32736 xref: SCTID:278191001 xref: TAO:0000670 xref: UMLS:C0019155 {source="ncithesaurus:Hepatic_Vein"} xref: Wikipedia:Hepatic_vein xref: XAO:0000387 xref: ZFA:0000670 is_a: UBERON:0001638 ! vein disjoint_from: UBERON:0001639 ! hepatic portal vein relationship: part_of UBERON:0000916 ! abdomen relationship: part_of UBERON:0002100 ! trunk relationship: part_of UBERON:0002107 ! liver property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/6/61/Gray1121.png xsd:anyURI property_value: IAO:0000116 "todo - add developmental relationships for other taxa" xsd:string [Term] id: UBERON:0001150 name: body of pancreas namespace: uberon def: "The body of the pancreas is a subsection of the pancreas organ in the human body. It is somewhat prismatic in shape, and has three surfaces: anterior, posterior, and inferior. It is at the same level as the transpyloric plane. [WP,unvetted]." [Wikipedia:Body_of_pancreas] subset: human_reference_atlas subset: uberon_slim synonym: "corpus pancreatis" RELATED LATIN [Wikipedia:Body_of_pancreas] synonym: "pancreas body" EXACT [] synonym: "pancreas corpus" RELATED [] synonym: "pancreatic body" EXACT [] xref: EHDAA2:0001368 xref: EHDAA:9178 xref: EMAPA:17504 xref: FMA:14518 xref: MA:0000121 xref: NCIT:C12270 xref: SCTID:362202004 xref: UMLS:C0227582 {source="ncithesaurus:Body_of_the_Pancreas"} xref: VHOG:0000451 xref: Wikipedia:Body_of_pancreas is_a: EFO:0003861 ! pancreactic component relationship: part_of UBERON:0001264 ! pancreas property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/f/fe/Illu_pancreas_duodenum.jpg xsd:anyURI property_value: homology_notes "Hagfish and lampreys may have one or more endocrine buds - and later the vertebrate pancreas develop as independent ventral and dorsal buds that eventually fuse to become one organ.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000451", ontology="VHOG", source="DOI:10.1016/j.crvi.2007.03.006 Madsen OD, Pancreas phylogeny and ontogeny in relation to a 'pancreatic stem cell'. Comptes Rendus Biologies (2007)", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001151 name: tail of pancreas namespace: uberon def: "The tail of the pancreas, located anatomically left near the hilum of the spleen, is not simply an anatomical distinction. The tail is the only part of the pancreas which contains Pancreatic Polypeptide (PP) cells, which are responsible for secreting pancreatic polypeptide to coordinate exocrine and islet enzyme release. PP cells are found in the tail's periphery. Beta cells and delta cells are found in the central part of the tail as with the rest of the pancreas. The cells described above are located exclusively in the islet cells; their secretions reach exocrine portions of the pancreas via the capillary network surrounding the islet cell populations. [WP,unvetted]." [Wikipedia:Tail_of_pancreas] subset: human_reference_atlas subset: uberon_slim synonym: "cauda pancreatis" RELATED LATIN [Wikipedia:Tail_of_pancreas] synonym: "left extremity of pancreas" EXACT [FMA:14519] synonym: "pancreas tail" EXACT [] synonym: "pancreatic tail" EXACT [FMA:14519] xref: EHDAA2:0001390 xref: EMAPA:17511 xref: FMA:14519 xref: MA:0000123 xref: NCIT:C12271 xref: SCTID:245382003 xref: UMLS:C0227590 {source="ncithesaurus:Tail_of_the_Pancreas"} xref: VHOG:0000452 xref: Wikipedia:Tail_of_pancreas is_a: EFO:0003861 ! pancreactic component relationship: part_of UBERON:0001264 ! pancreas property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/f/fe/Illu_pancreas_duodenum.jpg xsd:anyURI property_value: homology_notes "Hagfish and lampreys may have one or more endocrine buds - and later the vertebrate pancreas develop as independent ventral and dorsal buds that eventually fuse to become one organ.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000452", ontology="VHOG", source="DOI:10.1016/j.crvi.2007.03.006 Madsen OD, Pancreas phylogeny and ontogeny in relation to a 'pancreatic stem cell'. Comptes Rendus Biologies (2007)", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001153 name: caecum namespace: uberon def: "A pouch in the digestive tract that connects the ileum with the ascending colon of the large intestine. It is separated from the ileum by the ileocecal valve, and is the beginning of the large intestine. It is also separated from the colon by the cecocolic junction." [Wikipedia:Cecum] comment: Taxon notes: in some herbivorous lizards, a cecum is present between small and large intestines[Kardong] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "blind intestine" RELATED [BTO:0000166] synonym: "blindgut" RELATED [BTO:0000166] synonym: "caeca" NARROW PLURAL [NCBITaxon:8782] synonym: "caecum" EXACT [VHOG:0001559] synonym: "ceca" NARROW PLURAL [NCBITaxon:8782] synonym: "cecum" EXACT [FMA:14541] synonym: "intestinum caecum" RELATED [BTO:0000166] synonym: "intestinum crassum caecum" EXACT [] synonym: "intestinum crassum cecum" RELATED [BTO:0000166] xref: BTO:0000166 xref: CALOHA:TS-0122 xref: EFO:0000850 xref: EHDAA2:0000206 xref: EHDAA:3913 xref: EMAPA:35197 xref: EV:0100397 xref: FMA:14541 xref: GAID:307 xref: galen:Cecum xref: MA:0000334 xref: MESH:D002432 xref: MIAA:0000288 xref: NCIT:C12381 xref: SCTID:181256004 xref: UMLS:C0007531 {source="ncithesaurus:Cecum"} xref: VHOG:0001559 xref: Wikipedia:Cecum is_a: UBERON:0000061 ! anatomical structure relationship: never_in_taxon NCBITaxon:32443 {source="Wikipedia"} relationship: part_of UBERON:0000059 ! large intestine relationship: part_of UBERON:0001155 ! colon property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/8/82/Stomach_colon_rectum_diagram.svg xsd:anyURI property_value: has_relational_adjective "caecal" xsd:string property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "A cecum is present in most amniote species, and also in lungfish, but not in any living species of amphibian. In reptiles, it is usually a single median structure, arising from the dorsal side of the large intestine. Birds typically have two paired ceca, as, unlike other mammals, do hyraxes. Most mammalian herbivores have a relatively large cecum, hosting a large number of bacteria, which aid in the enzymatic breakdown of plant materials such as cellulose; in many species, it is considerably wider than the colon. In contrast, obligatory carnivores, whose diets contain little or no plant material, have a reduced cecum, which is often partially or wholly replaced by the vermiform appendix. Many fish have a number of small outpocketings, called pyloric ceca, along their intestine; despite the name they are not homologous with the cecum of amniotes, and their purpose is to increase the overall area of the digestive epithelium.[2] Some invertebrates, such as squid,[3] may also have structures with the same name, but these have no relationship with those of vertebrates." xsd:string {source="WP"} [Term] id: UBERON:0001154 name: vermiform appendix namespace: uberon def: "A blind-ended tube connected to the cecum, from which it develops embryologically[WP]." [https://orcid.org/0000-0002-6826-8770, Wikipedia:Vermiform_appendix] subset: efo_slim subset: human_reference_atlas subset: organ_slim subset: uberon_slim synonym: "apex of caecum" RELATED [EMAPA:35140] synonym: "apex of cecum" RELATED [VHOG:0001306] synonym: "appendix" EXACT [] synonym: "appendix vermiformis" EXACT LATIN [FMA:14542, FMA:TA] synonym: "appendix vermiformis" RELATED LATIN [Wikipedia:Vermiform_appendix] synonym: "caecal appendix" EXACT [] synonym: "cecal appendix" EXACT [] synonym: "vermix" BROAD [] xref: BTO:0000084 xref: CALOHA:TS-1267 xref: EFO:0000849 xref: EHDAA2:0000588 xref: EMAPA:35140 xref: EV:0100076 xref: EV:0100080 xref: FMA:14542 xref: GAID:308 xref: galen:AppendixVermiformis xref: MA:0001540 xref: MAT:0000287 xref: MESH:D001065 xref: MIAA:0000287 xref: NCIT:C12380 xref: SCTID:181255000 xref: UMLS:C0003617 {source="ncithesaurus:Vermiform_Appendix"} xref: VHOG:0001306 xref: Wikipedia:Vermiform_appendix is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000059 ! large intestine relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001007 ! digestive system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/a/ad/Gray536.png xsd:anyURI property_value: external_definition "Organ with organ cavity which is continuous proximally with the cecum and distally terminates in the tip of the appendix. Examples: There is only one appendix[FMA:14542]." xsd:string {source="FMA:14542"} property_value: has_relational_adjective "appendiceal" xsd:string property_value: homology_notes "A comparative anatomical approach reveals three apparent morphotypes of the cecal appendix, as well as appendix-like structures in some species that lack a true cecal appendix. Cladistic analyses indicate that the appendix has evolved independently at least twice (at least once in diprotodont marsupials and at least once in Euarchontoglires), shows a highly significant (P < 0.0001) phylogenetic signal in its distribution, and has been maintained in mammalian evolution for 80 million years or longer.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001306", ontology="VHOG", source="DOI:10.1111/j.1420-9101.2009.01809.x Smith HF, Fisher RE, Everett ML, Thomas AD, Randal Bollinger R, Parker W, Comparative anatomy and phylogenetic distribution of the mammalian cecal appendix. Journal of Evolutionary Biology (2009)", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:40674 property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001155 name: colon namespace: uberon def: "A portion of the large intestine before it becomes the rectum. In mammals, the colon is the most part of the large intestine, excluding the vermiform appendix, the rectum and the anal canal." [http://orcid.org/0000-0002-2825-0621, http://orcid.org/0000-0002-6601-2165, Wikipedia:Colon_(anatomy), ZFIN:curator] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "hindgut" RELATED [] synonym: "large bowel" EXACT [] synonym: "posterior intestine" NARROW [] xref: AAO:0010400 xref: BTO:0000269 xref: CALOHA:TS-0158 xref: EFO:0000361 xref: EMAPA:18939 xref: EV:0100079 xref: FMA:14543 xref: GAID:309 xref: galen:Colon xref: MA:0000335 xref: MAP:0000001 xref: MAT:0000526 xref: MESH:D003106 xref: NCIT:C12382 xref: SCTID:302508007 xref: TAO:0000706 xref: UMLS:C0009368 {source="ncithesaurus:Colon"} xref: VHOG:0000648 xref: Wikipedia:Colon_(anatomy) xref: XAO:0000243 xref: ZFA:0000706 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000059 ! large intestine property_value: external_definition "The last portion of the digestive system, it extracts water and salt from solid wastes before they are eliminated from the body.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010400", ontology="AAO", source="UBERON:0001155"} property_value: external_definition "The posterior intestine has short longitudinally arranged epithelial folds which are similar to the colon of higher vertebrates. Wallace et al, 2005.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000706", ontology="TAO", source="ZFIN:curator"} property_value: has_relational_adjective "colonic" xsd:string property_value: homology_notes "Although all vertebrates have a digestive tract and accessory glands, various parts of this system are not necessarily homologous, analogous, or even present in all species. Therefore, broad comparisons can be best made under the listings of headgut, foregut, midgut, pancreas and biliary system, hindgut.[uncertain][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000648", ontology="VHOG", source="ISBN:978-0521617147 Stevens CE and Hume ID, Comparative physiology of the vertebrate digestive system (2004) p.11", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "Some references do not consider the caecum to be part of the colon." xsd:string {xref="http://orcid.org/0000-0002-1572-1316"} property_value: IAO:0000116 "TODO - abstract this such that it legitimately covers all vertebrates" xsd:string property_value: taxon_notes "In mammals, the colon consists of four sections: the ascending colon, the transverse colon, the descending colon, and the sigmoid colon[WP]" xsd:string property_value: taxon_notes "In zebrafish, the posterior intestine has short longitudinally arranged epithelial folds which are similar to the colon of higher vertebrates[ZFIN]" xsd:string property_value: UBPROP:0000009 "it extracts water and salt from solid wastes before they are eliminated from the body[WP]" xsd:string [Term] id: UBERON:0001156 name: ascending colon namespace: uberon def: "Section of colon which is distal to the cecum and proximal to the transversecolon.[FMA,modified]." [FMA:14545, Wikipedia:Ascending_colon] subset: efo_slim subset: human_reference_atlas subset: uberon_slim synonym: "colon ascendens" EXACT LATIN [Wikipedia:Ascending_colon] synonym: "spiral colon" RELATED SENSU [Wikipedia:Spiral_colon] xref: BTO:0000270 xref: CALOHA:TS-0057 xref: EFO:0000843 xref: EMAPA:35151 xref: FMA:14545 xref: galen:AscendingColon xref: MA:0001541 xref: MAT:0000311 xref: MESH:D044682 xref: MIAA:0000311 xref: NCIT:C12265 xref: SCTID:362162009 xref: UMLS:C0227375 {source="ncithesaurus:Ascending_Colon"} xref: Wikipedia:Ascending_colon is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0001155 ! colon property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/3/3b/Dickdarm-Schema.svg xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 property_value: UBPROP:0000012 "in MA, this is a subclass of colon" xsd:string {external_ontology="MA"} [Term] id: UBERON:0001157 name: transverse colon namespace: uberon def: "The proximal-distal subdivision of colon that runs transversely across the upper part of the abdomen, from the right to the left colic flexure. Continuous with the descending colon[BTO,modified]." [BTO:0000272, Wikipedia:Transverse_colon] subset: efo_slim subset: human_reference_atlas subset: uberon_slim synonym: "colon transversum" EXACT LATIN [Wikipedia:Transverse_colon] xref: BTO:0000272 xref: CALOHA:TS-2052 xref: EFO:0000844 xref: EMAPA:35880 xref: FMA:14546 xref: galen:TransverseColon xref: MA:0001543 xref: MAT:0000312 xref: MESH:D044684 xref: MIAA:0000312 xref: NCIT:C12385 xref: SCTID:362163004 xref: UMLS:C0227386 {source="ncithesaurus:Transverse_Colon"} xref: Wikipedia:Transverse_colon is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0001155 ! colon property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/3/3b/Dickdarm-Schema.svg xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001158 name: descending colon namespace: uberon def: "The portion of the colon between the left colic flexure and the sigmoid colon at the pelvic brim; the portion of the descending colon lying in the left iliac fossa is sometimes called the iliac colon." [BTO:0000641] subset: efo_slim subset: human_reference_atlas subset: uberon_slim synonym: "colon descendens" EXACT LATIN [Wikipedia:Descending_colon] xref: BTO:0000641 xref: CALOHA:TS-2010 xref: EFO:0000845 xref: EMAPA:35285 xref: FMA:14547 xref: galen:DescendingColon xref: MA:0001542 xref: MAT:0000313 xref: MESH:D044683 xref: MIAA:0000313 xref: NCIT:C12268 xref: SCTID:362165006 xref: UMLS:C0227389 {source="ncithesaurus:Descending_Colon"} xref: Wikipedia:Descending_colon is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0001155 ! colon property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/c/ca/Gray1223.png xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001159 name: sigmoid colon namespace: uberon def: "The part of the large intestine that is closest to the rectum and anus. It forms a loop that averages about 40 cm. in length, and normally lies within the pelvis, but on account of its freedom of movement it is liable to be displaced into the abdominal cavity." [Wikipedia:Sigmoid_colon] subset: efo_slim subset: human_reference_atlas subset: uberon_slim synonym: "colon sigmoideum" RELATED LATIN [Wikipedia:Sigmoid_colon] synonym: "pelvic colon" RELATED [] synonym: "sigmoid colon" RELATED [] synonym: "sigmoid flexure" RELATED [] xref: BTO:0000645 xref: CALOHA:TS-2044 xref: EFO:0000846 xref: EMAPA:36391 xref: FMA:14548 xref: galen:SigmoidColon xref: MAT:0000314 xref: MESH:D012809 xref: MIAA:0000314 xref: NCIT:C12384 xref: NCIT:C33550 xref: SCTID:362166007 xref: UMLS:C0227391 {source="ncithesaurus:Sigmoid_Colon"} xref: UMLS:C0682612 {source="ncithesaurus:Sigmoid_Flexure"} xref: Wikipedia:Sigmoid_colon is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0001155 ! colon property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/3/3b/Dickdarm-Schema.svg xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001160 name: fundus of stomach namespace: uberon def: "The fundus is the portion of the stomach that lies above the cardiac notch, and contains the fundic glands[GO, Kardong]." [GO:0014825, ISBN:0073040584, Wikipedia:Fundus_(stomach)] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "fundus gastricus" RELATED [BTO:0000502] synonym: "fundus gastricus (ventricularis)" EXACT [] synonym: "fundus gastricus ventricularis" RELATED [BTO:0000502] synonym: "fundus ventricularis" RELATED [BTO:0000502] synonym: "fundus ventriculi" RELATED [BTO:0000502] synonym: "gastric fundus" EXACT [] synonym: "stomach fundus" EXACT [] xref: BTO:0000502 xref: EFO:0002554 xref: EHDAA2:0001919 xref: EHDAA:4844 xref: EMAPA:17886 xref: FMA:14559 xref: GAID:320 xref: galen:GastricFundus xref: MA:0001612 xref: MESH:D005748 xref: NCIT:C12257 xref: SCTID:362139007 xref: UMLS:C0017129 {source="ncithesaurus:Fundus_of_the_Stomach"} xref: VHOG:0000421 xref: Wikipedia:Fundus_(stomach) is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000945 ! stomach property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/3/31/Gray1046.svg xsd:anyURI property_value: external_definition "The greater curvature of the stomach. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000421", ontology="VHOG", source="http://bgee.unil.ch/"} property_value: homology_notes "Although all vertebrates have a digestive tract and accessory glands, various parts of this system are not necessarily homologous, analogous, or even present in all species. Therefore, broad comparisons can be best made under the listings of headgut, foregut, midgut, pancreas and biliary system, hindgut.[uncertain][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000421", ontology="VHOG", source="ISBN:978-0521617147 Stevens CE and Hume ID, Comparative physiology of the vertebrate digestive system (2004) p.11", source="http://bgee.unil.ch/"} [Term] id: UBERON:0001165 name: pyloric antrum namespace: uberon def: "The area at the bottom of the stomach on the caudal side of the pyloric canal that contains gastrin-producing G cells, which stimulate acid production, and the luminal pH-sensitive population of somatostatin-producing D cells." [ISBN:0-683-40008-8, MP:0010790] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "antrum" BROAD [] synonym: "antrum of stomach" EXACT [] synonym: "antrum of Willis" RELATED [BTO:0001732] synonym: "antrum pylori" RELATED [BTO:0001732] synonym: "antrum pyloricum" RELATED LATIN [BTO:0001732, Wikipedia:Pyloric_antrum] synonym: "gastric antrum" RELATED [BTO:0001732] synonym: "stomach antrum" RELATED [] synonym: "stomach pyloric antrum" EXACT [] xref: BTO:0001732 xref: EFO:0002555 xref: EMAPA:17891 xref: FMA:14579 xref: GAID:332 xref: galen:PyloricAntrum xref: MA:0001624 xref: MESH:D011706 xref: NCIT:C12259 xref: SCTID:362142001 xref: UMLS:C0034193 {source="ncithesaurus:Antrum_Pylori"} xref: Wikipedia:Pyloric_antrum is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000945 ! stomach property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/3/31/Gray1046.svg xsd:anyURI [Term] id: UBERON:0001174 name: common bile duct namespace: uberon def: "The part of the biliary tree formed by the union of the cystic duct and the common hepatic duct." [MGI:csmith, MP:0009495] subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "ductus choledochus" RELATED LATIN [Wikipedia:Common_bile_duct] synonym: "ductus choledochus (biliaris)" EXACT [] xref: EHDAA2:0000303 xref: EHDAA:3981 xref: EMAPA:17201 xref: FMA:14667 xref: GAID:282 xref: galen:CommonBileDuct xref: MA:0001631 xref: MESH:D003135 xref: NCIT:C12698 xref: SCTID:362199009 xref: TAO:0005165 xref: UMLS:C0009437 {source="ncithesaurus:Common_Bile_Duct"} xref: VHOG:0000214 xref: Wikipedia:Common_bile_duct xref: ZFA:0005165 is_a: UBERON:0002394 ! bile duct property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/5/5d/Digestive_system_showing_bile_duct.png xsd:anyURI property_value: external_definition "Digestive system duct that collects bile from the hepatic bile duct and the cystic duct.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0005165", ontology="TAO", source="ZFIN:Curator"} property_value: external_definition "The duct formed by the union of the common hepatic and cystic ducts. [Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier, adapted_from_Dorian_AF][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000214", ontology="VHOG", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001179 name: peritoneal cavity namespace: uberon def: "Anatomical cavity bounded by visceral and parietal peritoneum." [http://orcid.org/0000-0002-6601-2165, https://github.com/obophenotype/uberon/issues/86, Wikipedia:Peritoneal_cavity] subset: pheno_slim subset: uberon_slim synonym: "cavitas peritonealis" RELATED LATIN [BTO:0001782, Wikipedia:Peritoneal_cavity] synonym: "saccus serosus peritonei" RELATED LATIN [Wikipedia:Peritoneal_cavity] xref: BTO:0001782 xref: EHDAA2:0001446 xref: EMAPA:16138 xref: FMA:14704 xref: GAID:24 xref: MA:0000054 xref: MESH:D010529 xref: NCIT:C12769 xref: SCTID:181616008 xref: UMLS:C1704247 {source="ncithesaurus:Peritoneal_Cavity"} xref: VHOG:0000852 xref: Wikipedia:Peritoneal_cavity is_a: UBERON:0001062 ! anatomical entity property_value: external_definition "The potential space between the parietal and visceral layers of the peritoneum, which are normally in contact. The peritoneal cavity is divided into the greater and lesser sac. The greater sac is the peritoneal cavity, and the lesser sac is the omental bursa. [TFD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000852", ontology="VHOG", source="http://bgee.unil.ch/", source="http://medical-dictionary.thefreedictionary.com/peritoneal+cavity"} property_value: homology_notes "In hagfishes a transverse septum extends upward from the ventral body wall posterior to the heart, partly separating an anterior pericardial cavity from a larger peritoneal cavity. (...) These basic relationships have not been modified by urodeles. The small pericardial cavity remains far forward where it is separated by a transverse septum from the principal coelom, which may now be called a pleuroperitoneal cavity because slender lungs are present. (...) The heart [of other tetrapods] is separated from the lungs (and liver if present) by more or less horizontal partitions that have their origin in the embryo as folds on the serous membrane of the right and left lateral body walls. These grow out to join in the midline of the body. They are called lateral mesocardia (birds) or pleuropericardial membranes. Posteriorly they join the transverse septum to form the adult pericardial membrane, or pericardium. (...) In their partitioning of their coelom, embryonic mammals resemble first early fishes (incomplete partition, posterior to heart, consisting of the transverse septum) and then reptiles (pericardium derived from transverse septum and pleuropericardial membranes) Mammals then separate paired pleural cavities from the peritoneal cavity by a diaphragm. The ventral portion of this organ comes from the transverse septum. The dorsal portion is derived from the dorsal mesentery and from still another pair of outgrowths from the lateral body wall, the pleuroperitoneal membranes.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000852", ontology="VHOG", source="ISBN:978-0471090588 Hildebrand M, Analysis of vertebrate structure (1983) p.205-206", source="http://bgee.unil.ch/"} [Term] id: UBERON:0001184 name: renal artery namespace: uberon def: "One of two laterally paired arteries that supplies the kidneys. These are large arteries that branch from the dorsal aorta in primitive vertebrates." [ISBN:0073040584, Wikipedia:Renal_artery] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "arteria renalis" RELATED LATIN [Wikipedia:Renal_artery] synonym: "renal arterial tree" EXACT [] synonym: "renal arteries" RELATED PLURAL [] xref: AAO:0010223 xref: BTO:0001165 xref: EFO:0002552 xref: EHDAA2:0004100 xref: EHDAA:5321 xref: EHDAA:8594 xref: EMAPA:28373 xref: FMA:14751 xref: GAID:507 xref: galen:RenalArtery xref: MA:0002035 xref: MESH:D012077 xref: NCIT:C12778 xref: RETIRED_EHDAA2:0001600 xref: SCTID:181339005 xref: TAO:0000420 xref: UMLS:C0035065 {source="ncithesaurus:Renal_Artery"} xref: Wikipedia:Renal_artery xref: ZFA:0000420 is_a: UBERON:0001637 ! artery relationship: part_of UBERON:0001516 ! abdominal aorta property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/d/da/Gray1120.png xsd:anyURI property_value: external_definition "Artery which supplies blood via branches to the gonads, oviducts, and kidneys.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010223", ontology="AAO", source="AAO:BJB"} property_value: external_definition "The renal arteries normally arise off the side of the abdominal aorta, immediately below the superior mesenteric artery, and supply the kidneys with blood. Each is directed across the crus of the diaphragm, so as to form nearly a right angle with the aorta. The renal arteries carry a large portion of total blood flow to the kidneys. Up to a third of total cardiac output can pass through the renal arteries to be filtered by the kidneys. The arterial supply of the kidneys is variable and there may be one or more renal arteries supplying each kidney. It is located above the renal vein. It has a radius of approximately 0.25cm, 0.26 cm at the root. The measured mean diameter can differ depending on the imaging method used. For example, the diameter was found to be 5.04 ± 0.74 mm using ultrasound, but 5.68 ± 1.19 mm using angiography. [WP,unvetted].[Wikipedia]" xsd:string {ontology="Wikipedia", source="Wikipedia:Renal_artery"} property_value: IAO:0000116 "renal arteries vary widely even in humans. Sub-structures should be checked for taxon variability." xsd:string property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001193 name: hepatic artery namespace: uberon def: "An artery that supplies the liver." [https://orcid.org/0000-0002-6601-2165, Wikipedia:Hepatic_artery_proper] subset: human_reference_atlas subset: uberon_slim subset: vertebrate_core synonym: "arteria hepatica" RELATED [BTO:0004307] synonym: "arteria hepatica propria" EXACT LATIN [] xref: BTO:0004307 xref: EMAPA:17859 xref: FMA:14769 xref: GAID:496 xref: galen:HepaticArtery xref: MA:0001963 xref: MESH:D006499 xref: NCIT:C32729 xref: SCTID:76015000 xref: TAO:0005161 xref: UMLS:C0019145 {source="ncithesaurus:Hepatic_Artery"} xref: ZFA:0005161 is_a: UBERON:0001637 ! artery relationship: part_of UBERON:0002107 ! liver relationship: part_of UBERON:0004647 ! liver lobule property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/4/4c/Common_and_proper_hepatic_artery.png xsd:anyURI property_value: external_definition "Artery that supplies blood to the liver.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0005161", ontology="TAO", source="ZFIN:curator"} property_value: IAO:0000232 "currently defined in a generic fashion." xsd:string property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001211 name: Peyer's patch namespace: uberon def: "The protruding lymphoid tissue located on the mucosa of the intestine that is composed of densely packed B cell follicles." [http://orcid.org/0000-0002-6601-2165, MESH:A10.549.600, MP:0000696, PMID:15841100] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "aggregated lymphoid follicle of intestine" RELATED [] synonym: "aggregated lymphoid nodule" RELATED [] synonym: "noduli lymphoidei aggregati" EXACT LATIN [] synonym: "Peyers gland" RELATED [BTO:0001784] synonym: "Peyers patch" RELATED [BTO:0001784] xref: BTO:0001784 xref: CALOHA:TS-0780 xref: EFO:0001381 xref: EMAPA:19028 xref: GAID:950 xref: MA:0000137 xref: MESH:D010581 xref: NCIT:C12771 xref: UMLS:C0031272 {source="ncithesaurus:Peyer_s_Patch"} xref: Wikipedia:Peyer's_patch is_a: UBERON:0001744 ! lymphoid tissue relationship: never_in_taxon NCBITaxon:8459 {source="PMID:PMID:20181529"} property_value: taxon_notes "Reptiles have accumulations of lymphocytes in their guts that may be primitive Peyer's patches (Zapata and Solas)." xsd:string property_value: UBPROP:0000012 "FMA has [set of?] [aggregated,small] lymphoid [follice,nodule] of [colon, SI, I, etc]" xsd:string {external_ontology="FMA"} property_value: UBPROP:0000012 "Pp is a syn for Aggregated lymphoid follicle of small intestine; but MA uses Pp as covering both SI and LI. MA also includes follicle as a part. WP says duodenum and jejunum lack PPs" xsd:string {external_ontology="MA"} [Term] id: UBERON:0001224 name: renal pelvis namespace: uberon def: "A funnel shaped proximal portion of the ureter that is formed by convergence of the major calices [MP]." [MP:0004194] comment: In this ontology, the renal pelvis is represented as the area of part-overlap between the kidney and the ureter subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "kidney pelvis" EXACT [] synonym: "p. renallis" RELATED LATIN [Wikipedia:Renal_pelvis] synonym: "pelvis of ureter" EXACT [] synonym: "pyelum" RELATED [MP:0004194] xref: CALOHA:TS-2230 xref: EMAPA:17948 xref: FMA:15575 xref: GAID:426 xref: galen:RenalPelvis xref: MA:0000374 xref: MESH:D007682 xref: NCIT:C12887 xref: SCTID:362221007 xref: UMLS:C0227666 {source="ncithesaurus:Renal_Pelvis"} xref: Wikipedia:Renal_pelvis is_a: UBERON:0000061 ! anatomical structure disjoint_from: UBERON:0002355 ! pelvic region of trunk relationship: part_of UBERON:0002113 ! kidney relationship: part_of UBERON:0036295 ! renal pelvis/ureter property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/c/c0/Illu_kidney2.jpg xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001225 name: cortex of kidney namespace: uberon def: "Outer cortical portion of the kidney, between the renal capsule and the renal medulla." [Wikipedia:Renal_cortex] subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "cortex renalis" EXACT LATIN [FMA:15581, FMA:TA] synonym: "kidney cortex" EXACT [] synonym: "renal cortex" EXACT [] xref: BTO:0001166 xref: CALOHA:TS-0503 xref: EMAPA:17952 xref: FMA:15581 xref: GAID:424 xref: galen:CortexOfKidney xref: MA:0000372 xref: MESH:D007672 xref: NCIT:C12739 xref: SCTID:362211004 xref: UMLS:C0022655 {source="ncithesaurus:Renal_Cortex"} xref: Wikipedia:Renal_cortex is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0002113 ! kidney property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/6/69/Illu_kidney.jpg xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 property_value: UBPROP:0000010 "In the adult metanephros, it forms a continuous smooth outer zone with a number of projections that extend down between the pyramids. It contains the renal corpuscles and the renal tubules except for parts of the loop of Henle which descend into the renal medulla. It also contains blood vessels and cortical collecting ducts. The renal cortex is the part of the kidney where ultrafiltration occurs.[WP]" xsd:string [Term] id: UBERON:0001228 name: renal papilla namespace: uberon def: "Tip of renal pyramid projecting into a minor calyx." [http://anatomy.uams.edu/anatomyhtml/kidney.html] subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "kidney papilla" EXACT [MP:0011303] xref: BTO:0003925 xref: EMAPA:35727 xref: FMA:15622 xref: galen:RenalPapilla xref: MA:0002730 xref: MESH:D007679 xref: NCIT:C33460 xref: SCTID:362214007 xref: UMLS:C0022666 {source="ncithesaurus:Renal_Papilla"} xref: Wikipedia:Renal_papilla is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0001224 ! renal pelvis relationship: part_of UBERON:0004200 ! kidney pyramid property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/7/7e/Kidney_PioM.png xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001230 name: glomerular capsule namespace: uberon def: "A cup-like sac at the expanded beginning of a tubular component of a nephron that contains the glomerulus." [MGI:pvb, MP:0002828, Wikipedia:Bowman%27s_capsule] subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "Bowman's capsule" EXACT [http://www.gudmap.org/About/Tutorial/DevMUS.html#DMK_Nephron] synonym: "Bowman's capsule" RELATED [TAO:0005254] synonym: "Bowmans capsule" EXACT [KUPO:0001001] synonym: "capsula glomerularis" EXACT LATIN [] synonym: "capsula glomeruli" RELATED LATIN [] synonym: "Malphigian capsule" RELATED MISSPELLING [BTO:0002297] synonym: "Malpighian capsule" RELATED [UBERON:cjm] synonym: "Mueller capsule" RELATED [BTO:0002297] synonym: "Muellerian capsule" RELATED [BTO:0002297] synonym: "pronephric glomerular capsule" RELATED [TAO:0005310] synonym: "renal glomerular capsule" EXACT [TAO:0005254] xref: AAO:0010526 xref: BTO:0002297 xref: EMAPA:27973 xref: EMAPA:28257 xref: FMA:15626 xref: KUPO:0001001 xref: MA:0001660 xref: NCIT:C32225 xref: SCTID:361331000 xref: TAO:0005254 xref: TAO:0005310 xref: UMLS:C0524448 {source="ncithesaurus:Bowman_s_Capsule"} xref: Wikipedia:Bowman%27s_capsule xref: ZFA:0005254 xref: ZFA:0005310 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0001225 ! cortex of kidney relationship: part_of UBERON:0001285 ! nephron property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/3/30/Gray1130.svg xsd:anyURI property_value: external_definition "Anatomical structure found in the kidney consisting of an expanded end of a kidney tubule surrounding a glomerulus and is the major site of filtration.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010526", ontology="AAO", source="AAO:BJB"} property_value: UBPROP:0000009 "Fluids from blood in the glomerulus are collected in the Bowman's capsule and further processed along the nephron to form urine. This process is known as ultrafiltration[WP]." xsd:string property_value: UBPROP:0000011 "One fold of the S-shaped body gives rise to Bowman's capsule[GUDMAP]" xsd:string [Term] id: UBERON:0001231 name: nephron tubule namespace: uberon alt_id: UBERON:0004210 def: "An epithelial tube that is part of the nephron, the functional part of the kidney." [GO:0072078, Wikipedia:Renal_tubule] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "kidney tubule" EXACT [GAID:433] synonym: "renal tubule" BROAD [] synonym: "tubulus renalis" EXACT [] synonym: "uriniferous tubule" RELATED [MA:0000377] xref: BTO:0000343 xref: CALOHA:TS-1262 xref: EFO:0003666 xref: EMAPA:27782 xref: EV:0100387 xref: FMA:15627 xref: GAID:433 xref: MA:0000377 xref: MESH:D007684 xref: NCIT:C49274 xref: SCTID:361332007 xref: TAO:0001287 xref: UMLS:C0022674 {source="ncithesaurus:Renal_Tubule"} xref: Wikipedia:Renal_tubule xref: ZFA:0001287 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0000483 ! epithelium relationship: part_of UBERON:0001008 ! renal system relationship: part_of UBERON:0001285 ! nephron relationship: part_of UBERON:0002113 ! kidney property_value: RO:0002175 NCBITaxon:9606 property_value: UBPROP:0000012 "note that in ISBN:0073040584 (Vertebrates, Kardong), the uriniferous tubule contains the nephron, so we have a separate class, rather than using a synonym, as in MA" xsd:string {external_ontology="MA"} [Term] id: UBERON:0001232 name: collecting duct of renal tubule namespace: uberon def: "The collecting duct is a portion of the nephron through which water flows, moving passively down its concentration gradient." [GO:0072044, Wikipedia:Collecting_tubule] subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "arcuate renal tubule" RELATED [Wikipedia:Connecting_tubule] synonym: "collecting duct" EXACT [GO:0072044] synonym: "collecting duct system" RELATED [BTO:0000761] synonym: "collecting tubule" RELATED [] synonym: "junctional tube" RELATED [Wikipedia:Connecting_tubule] synonym: "kidney collecting duct" EXACT [] synonym: "kidney collecting tubule" RELATED [] synonym: "renal collecting tubule" EXACT [FMA:15628] synonym: "tubulus renalis arcuatus" EXACT LATIN [Wikipedia:Connecting_tubule] synonym: "tubulus renalis colligens" EXACT [] synonym: "ureteric tree" RELATED [EMAPA:28407] xref: BTO:0000761 xref: CALOHA:TS-0860 xref: EMAPA:28407 xref: EV:0100391 xref: FMA:15628 xref: GAID:434 xref: MA:0000371 xref: MESH:D007685 xref: SCTID:28202009 xref: TAO:0005294 xref: Wikipedia:Collecting_tubule xref: ZFA:0005294 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0001008 ! renal system relationship: part_of UBERON:0001285 ! nephron relationship: part_of UBERON:0004200 ! kidney pyramid property_value: external_definition "Renal duct that collects the output from renal tubules.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0005294", ontology="TAO", source="ZFIN:curator"} property_value: RO:0002175 NCBITaxon:9606 property_value: UBPROP:0000012 "in ISBN:0073040584 (Vertebrates, Kardong), the nephron is adjacent to the collecting tubule, consistent with FMA, but not GO. Wikipedia says: Many sources include the connecting tubule as part of the collecting duct system. However, the embryological origin is more similar to the nephron than it is to the rest of the collecting duct (which derives from the ureteric bud), and other sources therefore classify the connecting tubule with the nephron" xsd:string {external_ontology="FMA"} [Term] id: UBERON:0001235 name: adrenal cortex namespace: uberon def: "The thick outer layer of the adrenal gland that produces and secretes steroid hormones such as corticosterone, estrone and aldosterone." [ISBN:0-683-40008-8, MGI:llw2, MP:0008288] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "adrenal gland cortex" EXACT [] synonym: "cortex (glandula suprarenalis)" EXACT [] synonym: "cortex glandulae suprarenalis" RELATED LATIN [BTO:0000045, Wikipedia:Adrenal_cortex] synonym: "cortex of adrenal gland" EXACT [] synonym: "cortex of suprarenal gland" EXACT [] synonym: "suprarenal" RELATED [] synonym: "suprarenal cortex" EXACT [] xref: AAO:0011009 xref: BTO:0000045 xref: CALOHA:TS-0015 xref: EFO:0000237 xref: EMAPA:18427 xref: EV:0100136 xref: FMA:15632 xref: GAID:447 xref: MA:0000118 xref: MAT:0000494 xref: MESH:D000302 xref: NCIT:C12396 xref: SCTID:362584002 xref: UMLS:C0001613 {source="ncithesaurus:Adrenal_Cortex"} xref: VHOG:0001481 xref: Wikipedia:Adrenal_cortex xref: XAO:0000165 is_a: UBERON:0000061 ! anatomical structure property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/5/5c/Gray1185.png xsd:anyURI property_value: homology_notes "All craniates have groups of cells homologous to the mammalian adrenocortical and chromaffin tissues (medulla), but they are scattered in and near the kidneys in fishes. (...) The cortical and chromaffin tissues come together to form adrenal glands in tetrapods.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001481", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.518 and Figure 15-9", source="http://bgee.unil.ch/"} property_value: taxon_notes "Kardong states that mammals are the first to have distinct cortext and medulla, but this contradicts XAO" xsd:string [Term] id: UBERON:0001236 name: adrenal medulla namespace: uberon def: "The inner portion of the adrenal gland that consists mainly of chromaffin cells which produce, store and secrete neurotransmitters such as epinephrine and norepinephrine." [MESH:A06.407.071.265, MGI:llw2, MP:0008289] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "adrenal central medulla" RELATED [] synonym: "adrenal gland medulla" EXACT [] synonym: "chromaffin cells" RELATED [] synonym: "medulla (glandula suprarenalis)" EXACT [] synonym: "medulla glandulae suprarenalis" EXACT LATIN [FMA:15633, FMA:TA] synonym: "medulla of adrenal gland" EXACT [OBOL:automatic] synonym: "medulla of glandula suprarenalis" RELATED [BTO:0000049] synonym: "medulla of suprarenal gland" EXACT [] synonym: "suprarenal medulla" EXACT [] xref: AAO:0011010 xref: BTO:0000049 xref: CALOHA:TS-0018 xref: EFO:0000852 xref: EMAPA:18428 xref: EV:0100137 xref: FMA:15633 xref: GAID:451 xref: MA:0000119 xref: MAT:0000495 xref: MESH:D019439 xref: NCIT:C12397 xref: SCTID:362585001 xref: UMLS:C0001629 {source="ncithesaurus:Adrenal_Medulla"} xref: VHOG:0001378 xref: Wikipedia:Adrenal_medulla xref: XAO:0000166 is_a: UBERON:0000061 ! anatomical structure property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/5/5c/Gray1185.png xsd:anyURI property_value: homology_notes "All craniates have groups of cells homologous to the mammalian adrenocortical and chromaffin tissues (medulla), but they are scattered in and near the kidneys in fishes. (...) The cortical and chromaffin tissues come together to form adrenal glands in tetrapods.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001378", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.518 and Figure 15-9", source="http://bgee.unil.ch/"} [Term] id: UBERON:0001238 name: lamina propria of small intestine namespace: uberon def: "Lamina propria that is part_of the small intestine." [GOC:Obol] synonym: "lamina propria mucosa of small bowel" EXACT [OBOL:automatic] synonym: "lamina propria mucosa of small intestine" EXACT [OBOL:automatic] synonym: "lamina propria mucosae of small bowel" EXACT [OBOL:automatic] synonym: "lamina propria mucosae of small intestine" EXACT [] synonym: "lamina propria of mucosa of small intestine" EXACT [] synonym: "lamina propria of small bowel" EXACT [OBOL:automatic] synonym: "small bowel lamina propria" EXACT [OBOL:automatic] synonym: "small bowel lamina propria mucosa" EXACT [OBOL:automatic] synonym: "small bowel lamina propria mucosae" EXACT [OBOL:automatic] synonym: "small intestine lamina propria" EXACT [] synonym: "small intestine lamina propria mucosa" EXACT [OBOL:automatic] synonym: "small intestine lamina propria mucosae" EXACT [OBOL:automatic] xref: EMAPA:35779 xref: FMA:15651 xref: MA:0001554 xref: NCIT:C49297 xref: SCTID:63588008 xref: UMLS:C1711325 {source="ncithesaurus:Small_Intestinal_Lamina_Propria"} is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000344 ! mucosa relationship: part_of UBERON:0002108 ! small intestine relationship: part_of UBERON:0005409 ! alimentary part of gastrointestinal system [Term] id: UBERON:0001255 name: urinary bladder namespace: uberon def: "Distensible musculomembranous organ situated in the anterior part of the pelvic cavity in which urine collects before excretion[MP]." [MGI:anna, Wikipedia:Urinary_bladder] subset: efo_slim subset: human_reference_atlas subset: major_organ subset: organ_slim subset: pheno_slim subset: uberon_slim synonym: "bladder" BROAD [EHDAA2:0000174] synonym: "urocyst" RELATED [Wikipedia:Urinary_bladder] synonym: "vesica" RELATED [BTO:0001418] synonym: "vesica urinaria" EXACT LATIN [Wikipedia:Urinary_bladder] xref: AAO:0000623 xref: BTO:0001418 xref: CALOHA:TS-1090 xref: EFO:0000290 xref: EHDAA2:0000174 xref: EHDAA:9328 xref: EMAPA:18321 xref: EV:0100098 xref: FMA:15900 xref: GAID:0000004 xref: galen:UrinaryBladder xref: MA:0000380 xref: MAT:0000122 xref: MESH:D001743 xref: MIAA:0000122 xref: NCIT:C12414 xref: SCTID:302512001 xref: UMLS:C0005682 {source="ncithesaurus:Bladder"} xref: VHOG:0000740 xref: Wikipedia:Urinary_bladder xref: XAO:0000154 is_a: UBERON:0000061 ! anatomical structure relationship: never_in_taxon NCBITaxon:8782 {editor="https://orcid.org/0000-0003-3308-6245", id="GOTAX:0010073", source="https://github.com/obophenotype/uberon/issues/454"} relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0002100 ! trunk property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/3/30/Urinary_system.svg xsd:anyURI property_value: external_definition "A saccular organ in which urine accumulates before discharge from the body. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-29, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000740", ontology="VHOG", source="http://bgee.unil.ch/"} property_value: external_definition "Anatomical structure which consists of a membranous sac used to temporarily store urine until it is excreted from the body.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000623", ontology="AAO", source="AAO:BJB"} property_value: has_relational_adjective "vesical" xsd:string property_value: homology_notes "In tetrapods, the urinary bladder arises as an outpocketing of the cloaca. (...) The tetrapod urinary bladder appears first among amphibians and is present in Sphenodon, turtles, most lizards, ostriches among birds, and all mammals.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000740", ontology="VHOG", source="ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.577-78", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "The urinary bladder evolved in tetrapods. Birds to not possess a true urinary bladder, although Palaeognathae have an undifferentiated cloacal outpocketing that serves a similar function[https://github.com/obophenotype/uberon/issues/454]" xsd:string [Term] id: UBERON:0001259 name: mucosa of urinary bladder namespace: uberon def: "The mucous membrane lining the urinary bladder." [MGI:anna, MP:0011766] subset: efo_slim subset: human_reference_atlas subset: pheno_slim synonym: "bladder mucosa" EXACT [] synonym: "bladder mucous membrane" EXACT [OBOL:automatic] synonym: "bladder organ mucosa" EXACT [OBOL:automatic] synonym: "mucosa of bladder" EXACT [OBOL:automatic] synonym: "mucous membrane of bladder" EXACT [] synonym: "mucous membrane of urinary bladder" EXACT [] synonym: "tunica mucosa (vesica urinaria)" EXACT LATIN [FMA:15928, FMA:TA] synonym: "tunica mucosa vesicae" EXACT LATIN [FMA:15928, FMA:TA] synonym: "tunica mucosa vesicae urinariae" EXACT [MP:MP] synonym: "urinary bladder mucosa" EXACT [] synonym: "urinary bladder mucous membrane" EXACT [OBOL:automatic] xref: EFO:0000293 xref: EMAPA:35897 xref: FMA:15928 xref: galen:MucousMembraneOfUrinaryBladder xref: MA:0001692 xref: NCIT:C32205 xref: SCTID:362224004 xref: UMLS:C0227691 {source="ncithesaurus:Bladder_Mucosa"} is_a: UBERON:0000344 ! mucosa intersection_of: UBERON:0000344 ! mucosa intersection_of: part_of UBERON:0001255 ! urinary bladder relationship: part_of UBERON:0001255 ! urinary bladder property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001263 name: pancreatic acinus namespace: uberon def: "The secretory units of the exocrine pancreas, where fluid containing digestive enzymes is produced; consists of a group of secretory cells surrounding a luminal space that connects to the pancreatic duct." [MP:0009145] subset: human_reference_atlas subset: pheno_slim synonym: "acinus pancreaticus" EXACT LATIN [FMA:16011] synonym: "pancreas acinus" EXACT [] synonym: "pancreatic acinar" RELATED [] synonym: "pancreatic acini" RELATED PLURAL [] xref: EMAPA:35651 xref: FMA:16011 xref: MA:0002417 xref: NCIT:C49268 xref: SCTID:247604006 xref: UMLS:C0227578 {source="ncithesaurus:Pancreatic_Acinus"} is_a: EFO:0003861 ! pancreactic component relationship: part_of UBERON:0001264 ! pancreas relationship: part_of UBERON:0002530 ! gland property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001264 name: pancreas namespace: uberon def: "An endoderm derived structure that produces precursors of digestive enzymes and blood glucose regulating hormones[GO]." [GO:0031016] subset: efo_slim subset: human_reference_atlas subset: major_organ subset: organ_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core xref: AAO:0010112 xref: BTO:0000988 xref: CALOHA:TS-0736 xref: EFO:0000855 xref: EHDAA2:0001367 xref: EHDAA:6893 xref: EMAPA:17503 xref: EV:0100092 xref: FMA:7198 xref: GAID:334 xref: galen:Pancreas xref: MA:0000120 xref: MAT:0000075 xref: MESH:D010179 xref: MIAA:0000075 xref: NCIT:C12393 xref: SCTID:181277001 xref: TAO:0000140 xref: UMLS:C0030274 {source="ncithesaurus:Pancreas"} xref: VHOG:0000050 xref: Wikipedia:Pancreas xref: XAO:0000136 xref: ZFA:0000140 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0002100 ! trunk property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/7/7e/Blausen_0699_PancreasAnatomy2.png xsd:anyURI property_value: external_definition "Organ which secretes a fluid containing enzymes that aid in the digestion of food.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010112", ontology="AAO", source="AAO:BJB"} property_value: has_relational_adjective "pancreatic" xsd:string property_value: homology_notes "In the hagfish and lampreys (our most primitive vertebrate species of today), the first sign of 'a new organ' is found as collections of endocrine cells around the area of the bile duct connection with the duodenum. These endocrine organs are composed of 99% beta cells and 1% somatostatin-producing delta cells. Compared to the more primitive protochordates (e.g. amphioxus), this represents a stage where all previously scattered insulin-producing cells of the intestinal tissue have now quantitatively migrated to found a new organ involved in sensing blood glucose rather than gut glucose. Only later in evolution, the beta cells are joined by exocrine tissue and alpha cells (exemplified by the rat-, rabbit- and elephant-fishes). Finally, from sharks and onwards in evolution, we have the islet PP-cell entering to complete the pancreas.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000050", ontology="VHOG", source="DOI:10.1016/j.crvi.2007.03.006 Madsen OD, Pancreas phylogeny and ontogeny in relation to a 'pancreatic stem cell'. C.R. Biologies (2007)", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "As a secretory organ serving exocrine and endocrine functions, the pancreas is specific to the vertebrates[PMID:16417468] Hagfishes and lampreys are unique in the complete separation of their endocrine pancreas (islet or- gan) and their exocrine pancreas (50). The endocrine and exocrine pancreas are coassociated in crown gnathostomes (50). In Branchiostoma and Ciona, there is no diverticulum as there is in hagfishes, lampreys, and gnathostomes, only dispersed insulin-secreting cells in the walls of the gastrointestinal tract (51, 52)" xsd:string {source="PMID:20959416"} property_value: taxon_notes "The zebrafish does not have a discrete pancreas. Exocrine pancreatic tissue can be found scattered along the intestinal tract. The acinar structure of the exocrine pancreas is very similar to that of mammals and comprises cells with a very dark, basophilic cytoplasm" xsd:string property_value: UBPROP:0000009 "The mature pancreas of higher vertebrates and mammals comprises two major functional units: the exocrine pancreas, which is responsible for the production of digestive enzymes to be secreted into the gut lumen, and the endocrine pancreas, which has its role in the synthesis of several hormones with key regulatory functions in food uptake and metabolism. The exocrine portion constitutes the majority of the mass of the pancreas, and contains only two different cell types, the secretory acinar cells and the ductular cells. The endocrine portion, which comprises only 1-2% of the total mass, contains five different cell types, which are organized into mixed functional assemblies referred to as the islets of Langerhans" xsd:string {source="PMID:16417468"} [Term] id: UBERON:0001273 name: ilium namespace: uberon def: "Paired endochondral bone that is the dorsal-most of the pelvic bones, offering attachment areas for gluteal muscles on its main surface [PHENOSCAPE:ad]." [https://github.com/obophenotype/uberon/issues/105, https://github.com/obophenotype/uberon/issues/60, PHENOSCAPE:ad] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "iliac bone" EXACT [EMAPA:18726] synonym: "ilium bone" EXACT [] synonym: "illium" RELATED [] synonym: "os iliacum" EXACT [] synonym: "os ilii" EXACT [] synonym: "os ilium" EXACT LATIN [FMA:16589, FMA:TA] xref: AAO:0000772 xref: CALOHA:TS-2200 xref: EFO:0003049 xref: EMAPA:18726 xref: FMA:16589 xref: GAID:207 xref: galen:Ilium xref: MA:0001336 xref: MESH:D007085 xref: NCIT:C32765 xref: SCTID:182029005 xref: UMLS:C0020889 {source="ncithesaurus:Ilium"} xref: Wikipedia:Ilium_(bone) is_a: UBERON:0001474 ! bone element relationship: never_in_taxon NCBITaxon:32443 {source="Wikipedia"} relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001434 ! skeletal system relationship: part_of UBERON:0001474 ! bone element relationship: part_of UBERON:0002091 ! appendicular skeleton relationship: part_of UBERON:0002100 ! trunk relationship: part_of UBERON:0002355 ! pelvic region of trunk relationship: RO:0002174 NCBITaxon:8570 {source="Wikipedia"} ! dubious_for_taxon property_value: external_definition "Paired, rodlike endochondral bones that constitute the anterior pelvic girdle.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000772", ontology="AAO", source="AAO:LAP"} property_value: has_relational_adjective "iliac" xsd:string property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/cmungall property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/mellybelly property_value: taxon_notes "All reptiles have an ilium except snakes, although some snake species have a tiny bone which is considered to be an ilium" xsd:string {source="WP"} property_value: UBPROP:0000012 "this is_a hip bone in MA." xsd:string {external_ontology="MA"} [Term] id: UBERON:0001277 name: intestinal epithelium namespace: uberon def: "Epithelial layer that lines the intestine." [UBERON:cjm] subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "bowel epithelial tissue" EXACT [OBOL:automatic] synonym: "bowel epithelium" EXACT [OBOL:automatic] synonym: "epithelial tissue of bowel" EXACT [OBOL:automatic] synonym: "epithelial tissue of intestine" EXACT [OBOL:automatic] synonym: "epithelium of bowel" EXACT [OBOL:automatic] synonym: "epithelium of intestine" EXACT [OBOL:automatic] synonym: "intestine epithelial tissue" EXACT [OBOL:automatic] synonym: "intestine epithelium" RELATED [] synonym: "villous epithelium" NARROW [ZFA:0005124] xref: BTO:0000781 xref: EMAPA:32873 xref: FMA:17229 xref: MA:0001536 xref: NCIT:C49240 xref: SCTID:266135004 xref: TAO:0005124 xref: UMLS:C0226890 {source="ncithesaurus:Intestinal_Epithelium"} xref: Wikipedia:Intestinal_epithelium xref: ZFA:0005124 is_a: UBERON:0000483 ! epithelium intersection_of: UBERON:0000483 ! epithelium intersection_of: part_of UBERON:0000160 ! intestine relationship: part_of UBERON:0000160 ! intestine relationship: part_of UBERON:0000344 ! mucosa relationship: part_of UBERON:0005409 ! alimentary part of gastrointestinal system property_value: external_definition "Simple columnar epithelium that lines the intestine, sometimes pseudostratified, with absorptive brush-border cells and mucous goblet cells clearly visible. Crosnier et al. 2005[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0005124", ontology="TAO", source="ZFIN:curator"} [Term] id: UBERON:0001281 name: hepatic sinusoid namespace: uberon alt_id: UBERON:0003275 def: "Wide thin-walled blood vessels in the liver. In mammals they have neither veinous or arterial markers." [Wikipedia:Hepatic_sinusoid, ZFIN:curator] subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "hepatic sinusoids" RELATED [] synonym: "liver hepatic sinusoids" EXACT [EHDAA2:0000999] synonym: "liver sinusoid" EXACT [] synonym: "liver sinusoidal blood vessel" EXACT [OBOL:automatic] synonym: "sinusoid of liver" EXACT [OBOL:automatic] synonym: "sinusoidal blood vessel of liver" EXACT [OBOL:automatic] synonym: "vas capillare sinusoideum" EXACT [] synonym: "vas sinusoideum" EXACT LATIN [Wikipedia:Hepatic_sinusoid] xref: EHDAA2:0000999 xref: EMAPA:17365 xref: FMA:17543 xref: MA:0000367 xref: NCIT:C32733 xref: SCTID:67435004 xref: TAO:0005091 xref: UMLS:C0227523 {source="ncithesaurus:Hepatic_Sinusoid"} xref: VHOG:0000708 xref: Wikipedia:Hepatic_sinusoid xref: ZFA:0005091 is_a: UBERON:0001982 ! capillary is_a: UBERON:0001986 ! endothelium relationship: part_of UBERON:0000916 ! abdomen relationship: part_of UBERON:0001981 ! blood vessel relationship: part_of UBERON:0002100 ! trunk relationship: part_of UBERON:0002107 ! liver relationship: part_of UBERON:0004535 ! cardiovascular system relationship: part_of UBERON:0004647 ! liver lobule property_value: homology_notes "(...) the amphibian liver has characteristics in common with both fish and terrestrial vertebrates. (...) The histological structure of the liver is similar to that in other vertebrates, with hepatocytes arranged in clusters and cords separated by a meshwork of sinusoids and the presence of the traditional triad of portal venule, hepatic arteriole, and bile duct.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000708", ontology="VHOG", source="DOI:10.1053/ax.2000.7133 Crawshaw GJ, Weinkle TK, Clinical and pathological aspects of the amphibian liver. Seminars in Avian and Exotic Pet Medicine (2000)", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001282 name: intralobular bile duct namespace: uberon def: "The tubules located between the bile canaliculi and interlobular bile ducts near the outer edge of a classic liver lobule." [MGI:csmith, MP:0009499] subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "canal of Hering" RELATED [] synonym: "canal of Herring" EXACT [FMA:17545] synonym: "canals of Hering" RELATED PLURAL [Wikipedia:Canals_of_Hering] synonym: "cholangiole" EXACT [FMA:17545] synonym: "duct of Herring" RELATED [Wikipedia:Canals_of_Hering] synonym: "ductus interlobularis bilifer" EXACT LATIN [FMA:17545, FMA:TA] synonym: "intrahepatic bile ductule" RELATED [Wikipedia:Canals_of_Hering] xref: FMA:17545 xref: MA:0002669 xref: NCIT:C32255 xref: SCTID:227002 xref: SCTID:269922006 xref: UMLS:C0227517 {source="ncithesaurus:Canal_of_Hering"} xref: Wikipedia:Canals_of_Hering is_a: UBERON:0002394 ! bile duct relationship: part_of UBERON:0002107 ! liver relationship: part_of UBERON:0002384 ! connective tissue relationship: part_of UBERON:0004647 ! liver lobule property_value: IAO:0000116 "Note that this is part of the intrahepatic bile duct in MA, as this class is more alike the tree in FMA. Note also that SCT has canal of Hering and Entire IBduct as the only sibling terms under 'Structure of intralobular bile duct' (i.e. the CoH is the only part of the entire IBduct)" xsd:string property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001285 name: nephron namespace: uberon def: "The basic functional unit of the kidney. its chief function is to regulate the concentration of water and soluble substances like sodium salts by filtering the blood, reabsorbing what is needed and excreting the rest as urine. A nephron eliminates wastes from the body, regulates blood volume and blood pressure, controls levels of electrolytes and metabolites, and regulates blood pH. Its functions are vital to life and are regulated by the endocrine system by hormones such as antidiuretic hormone, aldosterone, and parathyroid hormone.[WP]." [PMID:9268568, Wikipedia:Nephron] subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "mature nephron" NARROW [EMAPA:28491] synonym: "nephroneum" RELATED LATIN [Wikipedia:Nephron] synonym: "tubulus renalis" RELATED LATIN [Wikipedia:Nephron] xref: BTO:0000924 xref: CALOHA:TS-1312 xref: EMAPA:28491 xref: EMAPA:35592 xref: EV:0100384 xref: FMA:17640 xref: GAID:428 xref: MA:0000375 xref: MESH:D009399 xref: NCIT:C13048 xref: SCTID:361337001 xref: TAO:0002153 xref: UMLS:C0027713 {source="ncithesaurus:Nephron"} xref: Wikipedia:Nephron xref: ZFA:0005282 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0002113 ! kidney property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/0/02/Gray1128.png xsd:anyURI property_value: external_definition "Functional unit of the kidney that filters waste.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0002153", ontology="TAO", source="ZFIN:curator"} property_value: IAO:0000116 "kidney terms require review for cross-vertebrate compatibility and developmental relationships." xsd:string property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "In the avian kidney, three types of nephron are identified: mammalian-type nephrons with long and short loops of Henle, and reptilian type nephrons (Gambaryan, 1992)" xsd:string {source="GO"} [Term] id: UBERON:0001287 name: proximal convoluted tubule namespace: uberon def: "The proximal convoluted tubule is the most proximal portion of the proximal tubule and extends from the glomerular capsule to the proximal straight tubule." [GO:0072019] subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "1st convoluted tubule" RELATED [] synonym: "first convoluted tubule" RELATED [] synonym: "kidney proximal convoluted tubule" RELATED [EMAPA:28287] synonym: "PCT" RELATED [] synonym: "proximal convoluted renal tubule" EXACT [] synonym: "renal proximal convoluted tubule" RELATED [http://orcid.org/0000-0002-6601-2165] synonym: "tubulus contortus proximalis" EXACT [] synonym: "tubulus contortus proximalis" RELATED LATIN [Wikipedia:Proximal_convoluted_tubule] synonym: "tubulus convolutus proximalis" RELATED LATIN [] xref: CALOHA:TS-2198 xref: EMAPA:28287 xref: EV:0100388 xref: FMA:17693 xref: MA:0001669 xref: NCIT:C33417 xref: SCTID:362220008 xref: TAO:0005290 xref: UMLS:C1514580 {source="ncithesaurus:Proximal_Convoluted_Tube"} xref: Wikipedia:Proximal_convoluted_tubule xref: ZFA:0005290 is_a: UBERON:0001231 ! nephron tubule relationship: part_of UBERON:0001225 ! cortex of kidney relationship: part_of UBERON:0001231 ! nephron tubule relationship: part_of UBERON:0004134 ! proximal tubule property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/0/02/Gray1128.png xsd:anyURI property_value: external_definition "Renal tubule that connects to the renal corpuscle.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0005290", ontology="TAO", source="ZFIN:curator"} [Term] id: UBERON:0001288 name: loop of Henle namespace: uberon def: "The section of the renal tubule in the kidney medulla with a hairpin bend; consists of a descending limb and an ascending limb, and is situated between the proximal convoluted tubule to the distal convoluted tubule; it functions to reabsorb water and ions from the urine." [MGI:csmith, MP:0004755] subset: pheno_slim subset: uberon_slim synonym: "ansa nephroni" EXACT LATIN [Wikipedia:Loop_of_Henle] synonym: "Henle loop" EXACT [] synonym: "Henle's loop" EXACT [] xref: BTO:0004608 xref: EMAPA:19280 xref: EV:0100390 xref: FMA:17698 xref: GAID:437 xref: MA:0001675 xref: MESH:D008138 xref: NCIT:C33006 xref: SCTID:361335009 xref: UMLS:C0023986 {source="ncithesaurus:Loop_of_Henle"} xref: VHOG:0001270 xref: Wikipedia:Loop_of_Henle is_a: UBERON:0001231 ! nephron tubule relationship: part_of UBERON:0001231 ! nephron tubule relationship: part_of UBERON:0001285 ! nephron relationship: part_of UBERON:0004200 ! kidney pyramid relationship: RO:0002174 NCBITaxon:8353 ! dubious_for_taxon property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/0/02/Gray1128.png xsd:anyURI property_value: external_definition "A highly specialized segment of the mammalian kidney tubules, that dips into the medulla. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Grande_L, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF, p.648, see_Liem_KF][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001270", ontology="VHOG", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "the definitions of some kidney parts (e.g. proximal straight tubule) refer to Henle's loop, even in species where this may not be present. Requires review." xsd:string property_value: RO:0002175 NCBITaxon:8782 property_value: taxon_notes "The structure differs considerably between species; there is a definite physical loop of Henle in the mammalian and avian renal systems but this seems to be absent in Xenopus. However, homologs of some, but not all, molecular markers (e.g. cldn8 and clcnk) of the mammalian loop of Henle were found to be present in the pronephros of the frog larva ." xsd:string {source="DOI:10.1371/journal.pone.0099864"} property_value: UBPROP:0000009 "The loop of Henle plays an important role in creating a concentration gradient in the medulla of the kidney. It is involved in reabsorption of filtered water and ions including sodium, potassium and calcium, and independently regulates both the volume and osmolarity of body fluids." xsd:string {source="DOI:10.1371/journal.pone.0099864"} [Term] id: UBERON:0001289 name: descending limb of loop of Henle namespace: uberon def: "The portion of the renal tubule that constitutes the proximal part of the loop of Henle, has low permeability to ions and urea, and is highly permeable to water; it consists of an initial short thick segment lined by low simple cuboidal epithelium and a long thin segment lined by simple squamous epithelium; however, this distinction is not as important physiologically as in the ascending limb, so often the two are treated as one structure." [MGI:anna, MP:0011341] subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "descending limb" BROAD [] synonym: "descending limb of Henle's loop" EXACT [] synonym: "loop of Henle descending limb" EXACT [] xref: EMAPA:35511 xref: FMA:17705 xref: MA:0001679 xref: NCIT:C32456 xref: SCTID:245350001 xref: UMLS:C0227657 {source="ncithesaurus:Descending_Limb_of_the_Henle_s_Loop"} xref: Wikipedia:Descending_limb_of_loop_of_henle is_a: UBERON:0001231 ! nephron tubule relationship: part_of UBERON:0001231 ! nephron tubule relationship: part_of UBERON:0001288 ! loop of Henle property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/0/02/Gray1128.png xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001290 name: proximal straight tubule namespace: uberon alt_id: UBERON:0005166 def: "The proximal straight tubule is the part of the descending limb that extends from the proximal convoluted tubule to the descending thin tubule." [GO:0072020] subset: human_reference_atlas subset: uberon_slim subset: vertebrate_core synonym: "pars recta" RELATED [] synonym: "pars recta tubuli renalis" RELATED [BTO:0000055] synonym: "proximal tubule segment 3" RELATED [MA:0002614] synonym: "S3" EXACT [GO:0072020] synonym: "segment 3 of proximal tubule" RELATED [EMAPA:29661] synonym: "thick descending limb of proximal tubule" EXACT [] synonym: "tubulus rectus proximalis" EXACT [] xref: BTO:0000055 xref: EMAPA:29661 xref: EMAPA:29669 xref: FMA:17716 xref: MA:0002614 xref: TAO:0005291 xref: Wikipedia:Proximal_straight_tubule xref: ZFA:0005291 is_a: UBERON:0001231 ! nephron tubule relationship: part_of UBERON:0001225 ! cortex of kidney relationship: part_of UBERON:0001231 ! nephron tubule relationship: part_of UBERON:0001289 ! descending limb of loop of Henle relationship: part_of UBERON:0004134 ! proximal tubule relationship: part_of UBERON:0004200 ! kidney pyramid property_value: external_definition "Portion of the renal tubule which is just posterior to the proximal convoluted tubule.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0005291", ontology="TAO", source="ZFIN:curator"} property_value: IAO:0000116 "TODO - is S3 exactly coincident with PST? todo - ensure relationships work across species (loop of Henle)" xsd:string property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001291 name: thick ascending limb of loop of Henle namespace: uberon def: "The distal sub-portion of the ascending loop of Henle which is lined by simple cuboidal epithelium and enters the renal cortex to empty a hypotonic filtrate into the distal convoluted tubule." [MGI:anna, MP:0011344] subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "ascending thick limb" EXACT [] synonym: "distal straight tubule" EXACT [MA:0001677] synonym: "loop of Henle ascending limb thick segment" EXACT [MA:0001677] synonym: "straight portion of distal convoluted renal tubule" EXACT [] synonym: "straight portion of distal convoluted tubule" EXACT [FMA:17722] synonym: "thick ascending limb" EXACT [] synonym: "thick ascending limb of distal tubule" EXACT [FMA:17722] synonym: "thick ascending limb of Henle's loop" EXACT [] synonym: "tubulus rectus distalis" EXACT [FMA:17722] synonym: "tubulus rectus distalis" RELATED LATIN [Wikipedia:Thick_ascending_limb_of_loop_of_Henle] xref: EMAPA:28396 xref: EMAPA:29671 xref: EMAPA:35512 xref: FMA:17722 xref: MA:0001677 xref: SCTID:244953001 xref: Wikipedia:Thick_ascending_limb_of_loop_of_Henle is_a: UBERON:0001231 ! nephron tubule relationship: part_of UBERON:0001231 ! nephron tubule relationship: part_of UBERON:0001288 ! loop of Henle relationship: part_of UBERON:0004135 ! distal tubule property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/0/02/Gray1128.png xsd:anyURI property_value: IAO:0000116 "TODO - thick/thin check. Also - does the loop of Henle overlap the distal convoluted tubule? FMA divides DCT into straight and convoluted portions" xsd:string property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001292 name: distal convoluted tubule namespace: uberon def: "The first segment of the nephron lying just downstream from the loop of Henle, immediately after the macula densa." [GO:0072025] subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "distal convoluted renal tubule" EXACT [] synonym: "second convoluted tubule" RELATED [] synonym: "tubulus contortus distalis" EXACT [] synonym: "tubulus contortus distalis" RELATED LATIN [Wikipedia:Distal_convoluted_tubule] synonym: "tubulus convolutus distalis" RELATED LATIN [] xref: EMAPA:28393 xref: EV:0100389 xref: FMA:17721 xref: MA:0001666 xref: NCIT:C32469 xref: SCTID:361336005 xref: UMLS:C0022676 {source="ncithesaurus:Distal_Convoluted_Tubule"} xref: Wikipedia:Distal_convoluted_tubule is_a: UBERON:0001231 ! nephron tubule relationship: part_of UBERON:0001225 ! cortex of kidney relationship: part_of UBERON:0001231 ! nephron tubule relationship: part_of UBERON:0001285 ! nephron relationship: part_of UBERON:0004135 ! distal tubule property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/2/21/Kidney_nephron.png xsd:anyURI property_value: external_definition "a portion of kidney nephron between the loop of Henle and the collecting duct system[Wikipedia:Distal_convoluted_tubule]." xsd:string {source="Wikipedia:Distal_convoluted_tubule"} property_value: RO:0002175 NCBITaxon:9606 property_value: UBPROP:0000009 "in humans it is responsible for the reabsorption of about 5% of filtered sodium via the thiazide-sensitive Na-Cl symporter." xsd:string [Term] id: UBERON:0001295 name: endometrium namespace: uberon def: "The glandular mucous membrane lining of the uterine cavity that is hormonally responsive during the estrous/menstrual cycle and during pregnancy." [MESH:A05.360.319.679.490, MGI:smb, MP:0004896] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "tunica mucosa (endometrium)" EXACT [FMA:17742] synonym: "tunica mucosa uteri" EXACT LATIN [Wikipedia:Endometrium] synonym: "uterine endometrium" EXACT [BTO:0001422] synonym: "uterine mucosa" RELATED [] synonym: "uterine mucous membrane" RELATED [BTO:0001422] xref: BTO:0001422 xref: CALOHA:TS-0276 xref: EFO:0000980 xref: EMAPA:29917 xref: EV:0100115 xref: FMA:17742 xref: GAID:377 xref: MA:0000390 xref: MAT:0000319 xref: MESH:D004717 xref: MIAA:0000319 xref: NCIT:C12313 xref: SCTID:278867007 xref: UMLS:C0014180 {source="ncithesaurus:Endometrium"} xref: VHOG:0001285 xref: Wikipedia:Endometrium is_a: UBERON:0000344 ! mucosa intersection_of: UBERON:0000344 ! mucosa intersection_of: part_of UBERON:0000995 ! uterus relationship: part_of UBERON:0000990 ! reproductive system relationship: part_of UBERON:0000995 ! uterus property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/6/66/Illu_cervix.jpg xsd:anyURI property_value: external_definition "The mucous membrane lining the uterus. [TFD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001285", ontology="VHOG", source="http://bgee.unil.ch/", source="http://medical-dictionary.thefreedictionary.com/Endometrium"} property_value: has_relational_adjective "endometrial" xsd:string property_value: homology_notes "The maternal part of the placenta (of eutherian mammals) is the vascularized and glandular uterine lining, or endometrium.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001285", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.144", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "Animals that have estrous cycles reabsorb the endometrium if conception does not occur during that cycle. Animals that have menstrual cycles shed the endometrium through menstruation instead" xsd:string property_value: UBPROP:0000012 "in FMA this is subdivided into basal and outer" xsd:string {external_ontology="FMA"} [Term] id: UBERON:0001296 name: myometrium namespace: uberon def: "The smooth muscle coat of the uterus, which forms the main mass of the organ and surrounds and supports the endometrium." [MESH:A02.633.570.500, MGI:brs, MP:0008256] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "tunica muscularis" RELATED LATIN [Wikipedia:Myometrium] synonym: "tunica muscularis (myometrium)" EXACT [] synonym: "uterine myometrium" RELATED [BTO:0000907] synonym: "uterine smooth muscle" RELATED [] xref: BTO:0000907 xref: CALOHA:TS-0652 xref: EFO:0001970 xref: EMAPA:29923 xref: EV:0100116 xref: FMA:17743 xref: GAID:171 xref: MA:0000391 xref: MESH:D009215 xref: NCIT:C12314 xref: SCTID:279879004 xref: UMLS:C0027088 {source="ncithesaurus:Myometrium"} xref: VHOG:0001281 xref: Wikipedia:Myometrium is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000990 ! reproductive system relationship: part_of UBERON:0000995 ! uterus property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/6/66/Illu_cervix.jpg xsd:anyURI property_value: external_definition "The muscular wall of the uterus. [TFD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001281", ontology="VHOG", source="http://bgee.unil.ch/", source="http://medical-dictionary.thefreedictionary.com/myometrium"} property_value: has_relational_adjective "myometrial" xsd:string property_value: homology_notes "In all mammals, the uterus develops as a specialization of the paramesonephric or Müllerian ducts, which gives rise to the infundibula, oviducts, uterus, cervix, and anterior vagina. Morphogenetic events common to development of all uteri include: 1) differentiation and growth of the myometrium, 2) differentiation and morphogenesis of the endometrial glands, and 3) organization and stratification of endometrial stroma. Uterine development is initiated in the fetus, but is only completed postnatally with differentiation and development of the endometrial glands.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001281", ontology="VHOG", source="PMID:15471813 Spencer TE, Bazer FW, Uterine and placental factors regulating conceptus growth in domestic animals. Journal of Animal Science (2004)", source="http://bgee.unil.ch/"} property_value: UBPROP:0000009 "The myometrium stretches (the smooth muscle cells expand in both size and number) during pregnancy to allow for the harboring of the pregnancy, and contracts in a coordinated fashion during the process of labor. After delivery the myometrium contracts to expel the placenta and reduce blood loss." xsd:string [Term] id: UBERON:0001301 name: epididymis namespace: uberon def: "The elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens." [MGI:pvb, MP:0002631] subset: efo_slim subset: pheno_slim subset: uberon_slim xref: BTO:0000408 xref: CALOHA:TS-0285 xref: EFO:0000982 xref: EMAPA:19290 xref: EV:0100103 xref: FMA:18255 xref: GAID:397 xref: galen:Epididymis xref: MA:0000397 xref: MAT:0000130 xref: MESH:D004822 xref: MIAA:0000130 xref: NCIT:C12328 xref: SCTID:181432000 xref: UMLS:C0014533 {source="ncithesaurus:Epididymis"} xref: VHOG:0001265 xref: Wikipedia:Epididymis is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000079 ! male reproductive system relationship: part_of UBERON:0000990 ! reproductive system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/c/c3/Illu_testis_surface.jpg xsd:anyURI property_value: has_relational_adjective "epididymal" xsd:string property_value: IAO:0000116 "Kardong has epididymis in elasmobranch" xsd:string property_value: taxon_notes "A similar, but probably non-homologous, structure is found in cartilaginous fishes" xsd:string {source="WP"} property_value: UBPROP:0000010 "Typically divided into three main regions. In reptiles, there is an additional canal between the testis and the head of the epididymis, which receives the various efferent ducts. This is, however, absent in all birds and mammals. The epididymis is covered by a two layered pseudostratified epithelium. The epithelium is separated by a basement membrane from the connective tissue wall which has smooth muscle cells." xsd:string [Term] id: UBERON:0001310 name: umbilical artery namespace: uberon def: "The umbilical artery is a paired artery (with one for each half of the body) that is found in the abdominal and pelvic regions. In the fetus, it extends into the umbilical cord. [WP,unvetted]." [https://github.com/obophenotype/uberon/issues/328, Wikipedia:Umbilical_artery] subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "a. umbilicalis" RELATED LATIN [Wikipedia:Umbilical_artery] xref: BTO:0000841 xref: CALOHA:TS-1077 xref: EHDAA:1026 xref: EHDAA:410 xref: EMAPA:16331 xref: EMAPA:16372 xref: FMA:18820 xref: GAID:516 xref: MA:0002072 xref: MESH:D014469 xref: NCIT:C33827 xref: RETIRED_EHDAA2:0002106 xref: SCTID:261404000 xref: UMLS:C0041632 {source="ncithesaurus:Umbilical_Artery"} xref: Wikipedia:Umbilical_artery is_a: UBERON:0001637 ! artery relationship: part_of UBERON:0001987 ! placenta property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/e/ee/Gray502.png xsd:anyURI property_value: IAO:0000116 "todo - compare with EHDAA2. Check embryonic vs extraembryonic, developmental relationships" xsd:string property_value: RO:0002175 NCBITaxon:9606 property_value: seeAlso https://github.com/obophenotype/uberon/issues/328 xsd:anyURI [Term] id: UBERON:0001322 name: sciatic nerve namespace: uberon def: "A large nerve that supplies nearly the whole of the skin of the leg, the muscles of the back of the thigh, and those of the leg and foot. It begins in the lower back and runs through the buttock and down the lower limb." [Wikipedia:Sciatic_nerve] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "ischiadic nerve" RELATED [Wikipedia:Sciatic_nerve] synonym: "ischiatic nerve" RELATED [Wikipedia:Sciatic_nerve] synonym: "nervus ischiadicus" RELATED LATIN [BTO:0001221, Wikipedia:Sciatic_nerve] synonym: "nervus sciaticus" RELATED [BTO:0001221] xref: BIRNLEX:1133 xref: BTO:0001221 xref: CALOHA:TS-0899 xref: EFO:0001417 xref: EHDAA2:0001779 xref: EHDAA:5659 xref: EMAPA:18577 xref: FMA:19034 xref: GAID:852 xref: MA:0001172 xref: MESH:D012584 xref: NCIT:C52810 xref: SCTID:181050003 xref: UMLS:C0036394 {source="BIRNLEX:1133", source="ncithesaurus:Sciatic_Nerve"} xref: VHOG:0000894 xref: Wikipedia:Sciatic_nerve is_a: UBERON:0001021 ! nerve property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/3/3a/Gray1244.png xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "mouse sciatic nerve origins predominantly from the third lumbar (L3) and L4 spinal nerves, unlike the L4 and L5 in rats - http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2700063/" xsd:string [Term] id: UBERON:0001323 name: tibial nerve namespace: uberon def: "The tibial nerve is a branch of the sciatic nerve. The tibial nerve passes through the popliteal fossa to pass below the arch of soleus. In the popliteal fossa the nerve gives off branches to gastrocnemius, popliteus, soleus and plantaris muscles, an articular branch to the knee joint, and a cutaneous branch that will become the sural nerve. The sural nerve is joined by fibres from the common peroneal nerve and runs down the calf to supply the lateral side of the foot. Below the soleus muscle the nerve lies close to the tibia and supplies the tibialis posterior, the flexor digitorum longus and the flexor hallucis longus. The nerve passes into the foot running posterior to the medial malleolus. Here it is bound down by the flexor retinaculum in company with the posterior tibial artery. [WP,unvetted]." [Wikipedia:Tibial_nerve] subset: uberon_slim synonym: "medial popliteal nerve" EXACT [] synonym: "n. tibialis" RELATED LATIN [Wikipedia:Tibial_nerve] xref: EMAPA:36512 xref: FMA:19035 xref: GAID:854 xref: MA:0001173 xref: MESH:D013979 xref: NCIT:C52809 xref: SCTID:181078002 xref: UMLS:C0040186 {source="ncithesaurus:Tibial_Nerve"} xref: Wikipedia:Tibial_nerve is_a: UBERON:0001021 ! nerve relationship: part_of UBERON:0000978 ! leg relationship: part_of UBERON:0001322 ! sciatic nerve relationship: part_of UBERON:0002101 ! limb relationship: part_of UBERON:0002103 ! hindlimb property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/1/1a/Gray828.png xsd:anyURI [Term] id: UBERON:0001332 name: prepuce of penis namespace: uberon def: "A retractable double-layered fold of skin and mucous membrane that covers the glans penis and protects the urinary meatus when the penis is not erect." [http://orcid.org/0000-0002-6601-2165, Wikipedia:Foreskin] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "foreskin" RELATED [FMA:19639] synonym: "penile prepuce" EXACT [FMA:19639] synonym: "praeputium" RELATED LATIN [Wikipedia:Foreskin] synonym: "prepuce" BROAD [MA:0000407, Wikipedia:Foreskin] synonym: "prepuce of male" EXACT [EMAPA:18989] synonym: "prepucium" RELATED LATIN [Wikipedia:Foreskin] synonym: "preputium" BROAD [HP:0100587] synonym: "preputium penis" EXACT LATIN [FMA:19639, FMA:TA] xref: BTO:0001113 xref: CALOHA:TS-0383 xref: EFO:0001664 xref: EMAPA:18989 xref: EV:0100109 xref: FMA:19639 xref: MA:0000407 xref: NCIT:C33049 xref: SCTID:181426005 xref: UMLS:C0227952 {source="ncithesaurus:Male_Prepuce"} xref: Wikipedia:Foreskin is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000989 ! penis relationship: part_of UBERON:0000990 ! reproductive system property_value: depicted:by http://upload.wikimedia.org/wikipedia/en/thumb/c/cc/Foreskin2.jpg/200px-Foreskin2.jpg xsd:anyURI property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/e/e6/Foreskin_CloseupV2.jpg xsd:anyURI [Term] id: UBERON:0001347 name: white adipose tissue namespace: uberon def: "Connective tissue consisting of fat-storing cells and arranged in lobular groups or along minor blood vessels[MP,modified]." [ISBN:0-683-40008-8, MP:0005670] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "adipocytus unigutturalis" EXACT [] synonym: "textus adiposus albus" EXACT [] synonym: "textus adiposus albus" RELATED LATIN [Wikipedia:White_adipose_tissue] synonym: "unilocular adipose tissue" EXACT [] synonym: "white fat" EXACT [] xref: BTO:0001456 xref: CALOHA:TS-1119 xref: EFO:0000813 xref: EMAPA:35926 xref: FMA:20117 xref: MA:0000058 xref: MAT:0000199 xref: MESH:D052436 xref: MIAA:0000199 xref: NCIT:C33889 xref: UMLS:C1704223 {source="ncithesaurus:White_Adipose_Tissue"} xref: Wikipedia:White_adipose_tissue is_a: UBERON:0001013 ! adipose tissue property_value: external_definition "Adipose tissue, cells of which contain a single large lipid droplet." xsd:string {source="FMA"} [Term] id: UBERON:0001348 name: brown adipose tissue namespace: uberon def: "A thermogenic form of adipose tissue that is composed of brown adipocytes[MP,modified]." [MGI:smb, MP:0011698] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "adipocytus multigutturalis" EXACT [] synonym: "BAT" RELATED ABBREVIATION [Wikipedia:Brown_adipose_tissue] synonym: "brown fat" EXACT [] synonym: "multilocular adipose tissue" EXACT [] synonym: "textus adiposus fuscus" EXACT [] synonym: "textus adiposus fuscus" RELATED LATIN [Wikipedia:Brown_adipose_tissue] xref: BTO:0000156 xref: CALOHA:TS-0099 xref: EFO:0000812 xref: EMAPA:19209 xref: FMA:20118 xref: GAID:921 xref: MA:0000057 xref: MAT:0000198 xref: MESH:D002001 xref: MIAA:0000198 xref: NCIT:C32235 xref: SCTID:15965003 xref: UMLS:C0006298 {source="ncithesaurus:Brown_Adipose_Tissue"} xref: Wikipedia:Brown_adipose_tissue is_a: UBERON:0001013 ! adipose tissue property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/6/69/Brownfat_PETCT.jpg xsd:anyURI property_value: external_definition "Adipose tissue, cells of which contain multiple small lipid droplets.[FMA]" xsd:string {source="FMA"} property_value: taxon_notes "especially abundant in newborns and in hibernating mammals" xsd:string property_value: UBPROP:0000009 "thermogenesis" xsd:string [Term] id: UBERON:0001353 name: anal region namespace: uberon def: "The anus and surrounding regions. Encompasses both internal and external regions, where present." [https://orcid.org/0000-0002-6601-2165] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "posterior" RELATED [] synonym: "posterior end of organism" RELATED [] xref: EFO:0000847 xref: EHDAA2:0000122 xref: EHDAA:2931 xref: EMAPA:16831 xref: MA:0000329 xref: MAT:0000042 xref: MIAA:0000042 xref: NCIT:C32069 xref: SCTID:362680001 xref: UMLS:C0230120 {source="ncithesaurus:Anal_Region"} xref: VHOG:0000395 xref: WBbt:0006919 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000468 ! multicellular organism property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/f/fb/Gray408.png xsd:anyURI property_value: homology_notes "Although all vertebrates have a digestive tract and accessory glands, various parts of this system are not necessarily homologous, analogous, or even present in all species. Therefore, broad comparisons can be best made under the listings of headgut, foregut, midgut, pancreas and biliary system, hindgut.[uncertain][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000395", ontology="VHOG", source="ISBN:978-0521617147 Stevens CE and Hume ID, Comparative physiology of the vertebrate digestive system (2004) p.11", source="http://bgee.unil.ch/"} property_value: seeAlso https://github.com/obophenotype/uberon/issues/507 xsd:anyURI [Term] id: UBERON:0001359 name: cerebrospinal fluid namespace: uberon def: "A clear, colorless, bodily fluid, that occupies the subarachnoid space and the ventricular system around and inside the brain and spinal cord." [Wikipedia:Cerebrospinal_fluid] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "cerebral spinal fluid" EXACT [ZFA:0001626] synonym: "CSF" EXACT [] synonym: "liquor cerebrospinalis" RELATED [Wikipedia:Cerebrospinal_fluid] synonym: "spinal fluid" RELATED [BTO:0000237] xref: BIRNLEX:1798 xref: BTO:0000237 xref: CALOHA:TS-0130 xref: EFO:0000329 xref: EHDAA2:0004441 xref: ENVO:02000029 xref: EV:0100311 xref: FMA:20935 xref: GAID:1181 xref: MA:0002503 xref: MAT:0000499 xref: MESH:D002555 xref: NCIT:C12692 xref: TAO:0002184 xref: UMLS:C0007806 {source="BIRNLEX:1798", source="ncithesaurus:Cerebrospinal_Fluid"} xref: VHOG:0001278 xref: Wikipedia:Cerebrospinal_fluid xref: ZFA:0001626 is_a: UBERON:0000061 ! anatomical structure is_a: UBERON:0006314 ! bodily fluid property_value: external_definition "Portion of organism substance that is a clear fluid that occupies the subarachnoid space and the ventricular system around and inside the brain.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0002184", ontology="TAO", source="ZFIN:curator"} property_value: homology_notes "In vertebrates, at early stages of Central Nervous System (CNS) development, the architecture of the brain primordium reveals the presence of the cavity of brain vesicles, which is filled by Embryonic Cerebro-Spinal Fluid (E-CSF). (...) Rat and chick E-CSF proteomes are similar, although rat is more complex in certain groups of proteins, e.g., apolipoproteins, which may be involved in the control of neural diversity, and has soluble enzymes present, just like adult human CSF, but unlike chick E-CSF, revealing phylogenetic brain differences between these groups of vertebrates.[uncertain][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001278", ontology="VHOG", source="DOI:10.1021/pr050213t Parada C, Gato A, Bueno D, Mammalian embryonic cerebrospinal fluid proteome has greater apolipoprotein and enzyme pattern complexity than the avian proteome. Journal of Proteome Research (2005)", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "many sources state the CP as sole producer of CSF, but this is disputed [DOI:10.1007/s11064-015-1581-6]" xsd:string property_value: UBPROP:0000012 "EHDAA2 models this as developing from CP, which is wrong" xsd:string {external_ontology="EHDAA2"} property_value: UBPROP:0000012 "the FMA def states that this is subarachnoid spaces only. ZFA def states subarachnoid spaces and brain ventricles, but not SC (and has part_of to brain). Circulation: It circulates from the lateral ventricles to the foramen of Monro (Interventricular foramen), third ventricle, aqueduct of Sylvius (Cerebral aqueduct), fourth ventricle, foramen of Magendie (Median aperture) and foramina of Luschka (Lateral apertures), subarachnoid space over brain and spinal cord. It should be noted that the CSF moves in a pulsatile manner throughout the CSF system with nearly zero net flow. CSF is reabsorbed into venous sinus blood via arachnoid granulations." xsd:string {external_ontology="FMA"} [Term] id: UBERON:0001374 name: biceps femoris namespace: uberon def: "The biceps femoris is a muscle of the posterior (the back) thigh. As its name implies, it has two parts, one of which (the long head) forms part of the hamstrings muscle group. [WP,unvetted]." [Wikipedia:Biceps_femoris_muscle] subset: efo_slim subset: human_reference_atlas subset: uberon_slim synonym: "biceps femoris muscle" EXACT [BTO:0003418] synonym: "musculus biceps femoris" RELATED LATIN [Wikipedia:Biceps_femoris_muscle] xref: BTO:0003418 xref: EFO:0001418 xref: EMAPA:35170 xref: FMA:22356 xref: galen:BicepsFemoris xref: MA:0002270 xref: NCIT:C53147 xref: SCTID:181672002 xref: UMLS:C0224449 {source="ncithesaurus:Biceps_Femoris"} xref: Wikipedia:Biceps_femoris_muscle is_a: UBERON:0003663 ! hindlimb muscle relationship: part_of UBERON:0000376 ! hindlimb stylopod relationship: part_of UBERON:0000978 ! leg property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/b/bc/Biceps_femoris_muscle_long_head.PNG xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001377 name: quadriceps femoris namespace: uberon def: "One of the muscles belong to the group consisting of the rectus femoris and the three heads of the vastus (lateralis, medialis, intermedius)." [ISBN:0073040584] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "musculus quadriceps femoris" RELATED LATIN [BTO:0001149, Wikipedia:Quadriceps_femoris_muscle] synonym: "quadricep muscle" RELATED [BTO:0001149] synonym: "quadriceps" EXACT [] synonym: "quadriceps femoris muscle" EXACT [] synonym: "quadriceps muscle" RELATED [BTO:0001149] synonym: "quadriceps muscle of the thigh" RELATED [BTO:0001149] synonym: "quadriceps muscle of thigh" RELATED [BTO:0001149] xref: BTO:0001149 xref: EFO:0001938 xref: EHDAA2:0001583 xref: EHDAA:8299 xref: EMAPA:19146 xref: FMA:22428 xref: galen:QuadricepsFemoris xref: MA:0002363 xref: NCIT:C33441 xref: SCTID:181669009 xref: UMLS:C0224440 {source="ncithesaurus:Quadriceps_Muscle_of_the_Thigh"} xref: VHOG:0000828 xref: Wikipedia:Quadriceps_femoris_muscle is_a: UBERON:0003663 ! hindlimb muscle relationship: part_of UBERON:0002103 ! hindlimb property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/5/57/Illu_lower_extremity_muscles.jpg xsd:anyURI property_value: external_definition "The quadriceps is a collective term for the rectus femoris and the three heads of the vastus (lateralis, medialis, intermedius). [Evolution, Fourth_Edition_(2006)_McGraw-Hill, Function, Kardong_KV, Vertebrates:_Comparative_Anatomy, p.391][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000828", ontology="VHOG", source="http://bgee.unil.ch/"} [Term] id: UBERON:0001379 name: vastus lateralis namespace: uberon def: "The Vastus lateralis (Vastus externus) is the largest part of the Quadriceps femoris. It arises by a broad aponeurosis, which is attached to the upper part of the intertrochanteric line, to the anterior and inferior borders of the greater trochanter, to the lateral lip of the gluteal tuberosity, and to the upper half of the lateral lip of the linea aspera; this aponeurosis covers the upper three-fourths of the muscle, and from its deep surface many fibers take origin. A few additional fibers arise from the tendon of the Glutæus maximus, and from the lateral intermuscular septum between the Vastus lateralis and short head of the Biceps femoris. The fibers form a large fleshy mass, which is attached to a strong aponeurosis, placed on the deep surface of the lower part of the muscle: this aponeurosis becomes contracted and thickened into a flat tendon inserted into the lateral border of the patella, blending with the Quadriceps femoris tendon, and giving an expansion to the capsule of the knee-joint. [WP,unvetted]." [Wikipedia:Vastus_lateralis] subset: efo_slim subset: human_reference_atlas subset: uberon_slim synonym: "lateralis" BROAD [] synonym: "vastus externus" RELATED [BTO:0001563] synonym: "vastus lateralis muscle" EXACT [] xref: BTO:0001563 xref: EFO:0001937 xref: EMAPA:36244 xref: FMA:22431 xref: galen:VastusLateralis xref: MA:0002402 xref: NCIT:C53073 xref: UMLS:C0224444 {source="ncithesaurus:Vastus_Lateralis"} xref: Wikipedia:Vastus_lateralis is_a: UBERON:0001377 ! quadriceps femoris relationship: part_of UBERON:0001377 ! quadriceps femoris property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/5/57/Illu_lower_extremity_muscles.jpg xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001384 name: primary motor cortex namespace: uberon def: "The part of the cerebral cortex that receives projections from the motor thalamus and which projects to motor neurons in the brainstem and spinal cord. The motor cortex corresponds to Brodmann's area 4 (MM). The primary motor cortex, or M1, is located on the precentral gyrus and on the anterior paracentral lobule on the medial surface of the brain. Of the three motor cortex areas, stimulation of the primary motor cortex requires the least amount of electrical current to elicit a movement. http://neuroscience.uth.tmc.edu/s3/chapter03.html." [NLX:143555] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "excitable area" RELATED [BTO:0004348] synonym: "gyrus precentralis" RELATED LATIN [Wikipedia:Primary_motor_cortex] synonym: "motor area" RELATED [BTO:0004348] synonym: "motor cortex" EXACT [FMA:224854] synonym: "prefrontal gyrus" RELATED [MP:0000798, Wikipedia:Primary_motor_cortex] synonym: "primary motor area" RELATED [BAMS:MOp] synonym: "Rolando's area" RELATED [BTO:0004348] synonym: "somatic motor areas" RELATED [BAMS:MO] synonym: "somatomotor areas" RELATED [BAMS:MO] xref: BAMS:M1 xref: BAMS:MO xref: BAMS:MOp xref: BM:Tel-Cx-M1 xref: BTO:0004348 xref: DHBA:10162 xref: EFO:0002472 xref: EMAPA:35704 xref: FMA:224854 xref: MA:0000907 xref: MBA:985 xref: MESH:D009044 xref: NCIT:C97339 xref: neuronames:1910 xref: NLX:143555 xref: SCTID:11931008 xref: UMLS:C0026607 {source="ncithesaurus:Primary_Motor_Cortex"} xref: Wikipedia:Primary_motor_cortex is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0000956 ! cerebral cortex relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0001870 ! frontal cortex relationship: part_of UBERON:0001950 ! neocortex property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/e/eb/Ba4.png xsd:anyURI property_value: external_definition "the area of the frontal lobe that is involved with integration of voluntary movements and with speech.[MP]" xsd:string {date_retrieved="2012-08-31", external_class="MP:0000800", ontology="MP", source="MGI:csmith"} property_value: external_definition "The part of the cerebral cortex that receives projections from the motor thalamus and which projects to motor neurons in the brainstem and spinal cord. The motor cortex corresponds to Brodmann's area 4 (MM). The primary motor cortex, or M1, is located on the precentral gyrus and on the anterior paracentral lobule on the medial surface of the brain. Of the three motor cortex areas, stimulation of the primary motor cortex requires the least amount of electrical current to elicit a movement. http://neuroscience.uth.tmc.edu/s3/chapter03.html" xsd:string {source="NLX:143555"} property_value: IAO:0000116 "TODO - in MA this is asserted to be part_of BOTH frontal and parietal cortex. in ABA these are disjoint. FMA makes no commitment beyond cerebral cortex. Wikipedia says frontal lobe. Check if species difference or difference in definition. Removed relationship: part_of UBERON:0001872 parietal lobe" xsd:string property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001385 name: tibialis anterior namespace: uberon def: "A muscle that originates in the upper two-thirds of the lateral surface of the tibia and inserts into the medial cuneiform and first metatarsal bones of the foot. Its acts to invert the foot. It is situated on the lateral side of the tibia; it is thick and fleshy above, tendinous below. This muscle overlaps the anterior tibial vessels and deep peroneal nerve in the upper part of the leg. [WP,unvetted]. The M. tibialis cranialis is a muscle that flexes the tarsometatarsus. It originates on the craniodistal aspect of the femur and proximal tibiotarsus and inserts on the cranial surface of the tarsometarsus[EvoWiki]." [http://evolutionwiki.org/wiki/M._tibialis_cranialis, Wikipedia:Tibialis_anterior_muscle] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "anterior tibialis" RELATED [BTO:0001382] synonym: "ibialis anticus" RELATED [BTO:0001382] synonym: "musculus tibialis anterior" RELATED LATIN [Wikipedia:Tibialis_anterior_muscle] synonym: "tibialis anterior muscle" EXACT [BTO:0001382] synonym: "tibialis cranialis" EXACT [MA:0002395] synonym: "tibilais cranialis" EXACT [] xref: BTO:0001382 xref: EFO:0001385 xref: EMAPA:35866 xref: FMA:22532 xref: galen:TibialisAnterior xref: MA:0002395 xref: NCIT:C53079 xref: SCTID:181696007 xref: UMLS:C1710423 {source="ncithesaurus:Tibialis_Cranialis"} xref: Wikipedia:Tibialis_anterior_muscle is_a: UBERON:0003663 ! hindlimb muscle relationship: part_of UBERON:0000026 ! appendage relationship: part_of UBERON:0000978 ! leg property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/9/9c/Gray1240.png xsd:anyURI [Term] id: UBERON:0001388 name: gastrocnemius namespace: uberon def: "The most superficial muscle of the triceps surae group, in the posterior portion of the lower hindleg." [http://orcid.org/0000-0002-6601-2165, ISBN:0073040584, MP:0013188] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "gastrocnemius muscle" EXACT [BTO:0000506] synonym: "m. gastrocnemius" EXACT [] synonym: "m.gastrocnemius" EXACT [] synonym: "musculus gastrocnemius" RELATED LATIN [Wikipedia:Gastrocnemius_muscle] xref: BTO:0000506 xref: EFO:0001413 xref: EHDAA2:0000701 xref: EHDAA:8293 xref: EMAPA:35375 xref: FMA:22541 xref: galen:Gastrocnemius xref: MA:0002306 xref: NCIT:C32666 xref: SCTID:181700004 xref: UMLS:C0242691 {source="ncithesaurus:Gastrocnemius_Muscle"} xref: VHOG:0001193 xref: Wikipedia:Gastrocnemius_muscle is_a: UBERON:0003663 ! hindlimb muscle relationship: part_of UBERON:0000978 ! leg property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/8/8e/Gastrocnemius.png xsd:anyURI property_value: external_definition "The most superficial calf muscle in the posterior part of the leg. [TFD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001193", ontology="VHOG", source="http://bgee.unil.ch/", source="http://medical-dictionary.thefreedictionary.com/gastrocnemius"} property_value: homology_notes "The most prominent ventral muscle of the shank is the gastrocnemius, the 'calf' muscle. In mammals, it has two heads, resulting from the fusion of two different phylogenetic predecessors.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001193", ontology="VHOG", source="ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.393", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "In mammals this muscle has two heads[ISBN:0073040584]" xsd:string property_value: UBPROP:0000009 "involved in standing, walking, running and jumping" xsd:string [Term] id: UBERON:0001389 name: soleus muscle namespace: uberon def: "A deep muscle of the triceps surae group, in the superficial posterior compartment of the leg." [http://orcid.org/0000-0002-6601-2165, Wikipedia:Soleus_muscle] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "soleus" EXACT [MA:0002424] xref: BTO:0001265 xref: EFO:0001946 xref: EMAPA:35786 xref: FMA:22542 xref: galen:Soleus xref: MA:0002424 xref: NCIT:C53075 xref: SCTID:181702007 xref: UMLS:C0242694 {source="ncithesaurus:Soleus"} xref: Wikipedia:Soleus_muscle is_a: UBERON:0003663 ! hindlimb muscle relationship: never_in_taxon NCBITaxon:9611 {source="Wikipedia:Soleus"} relationship: part_of UBERON:0000978 ! leg property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/5/57/Illu_lower_extremity_muscles.jpg xsd:anyURI property_value: has_relational_adjective "soleal" xsd:string property_value: RO:0002175 NCBITaxon:9606 property_value: UBPROP:0000009 "responsible for plantar flexion of the foot" xsd:string {source="MP:0003081"} [Term] id: UBERON:0001398 name: brachial artery namespace: uberon def: "The brachial artery is the major blood vessel of the (upper) arm. It is the continuation of the axillary artery beyond the lower margin of teres major muscle. It continues down the ventral surface of the arm until it reaches the cubital fossa at the elbow. It then divides into the radial and ulnar arteries which run down the forearm. In some individuals, the bifurcation occurs much earlier and the ulnar and radial arteries extend through the upper arm. The pulse of the brachial artery is palpable on the anterior aspect of the elbow, medial to the tendon of the biceps, and, with the use of a stethoscope and sphygmomanometer (blood pressure cuff) often used to measure the blood pressure. The brachial artery is closely related to the median nerve; in proximal regions, the median nerve is immediately lateral to the brachial artery. Distally, the median nerve crosses the medial side of the brachial artery and lies anterior to the elbow joint. [WP,unvetted]." [Wikipedia:Brachial_artery] subset: efo_slim subset: human_reference_atlas subset: uberon_slim synonym: "arteria brachialis" RELATED LATIN [Wikipedia:Brachial_artery] synonym: "brachial part of trunk of subclavian artery" EXACT [] xref: AAO:0010504 xref: EFO:0004231 xref: FMA:22689 xref: GAID:475 xref: galen:BrachialArtery xref: MA:0001921 xref: MESH:D001916 xref: NCIT:C12681 xref: SCTID:181322008 xref: UMLS:C0006087 {source="ncithesaurus:Brachial_Artery"} xref: Wikipedia:Brachial_artery is_a: UBERON:0001637 ! artery property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/7/7d/Gray525.png xsd:anyURI property_value: external_definition "Part of the subclavian artery which supplies blood to the forelimb.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010504", ontology="AAO", source="AAO:BJB"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001401 name: longissimus thoracis muscle namespace: uberon def: "The longissimus thoracis is the intermediate and largest of the continuations of the sacrospinalis.[WP]. intermediate erector spinae muscle of back; origin, with iliocostalis and from transverse processes of lower thoracic vertebrae; insertion, by lateral slips into most or all of the ribs between angles and tubercles and into tips of transverse processes of upper lumbar vertebrae, and by medial slips into accessory processes of upper lumbar and transverse processes of thoracic vertebrae; action, extends vertebral column; nerve supply, dorsal primary rami of thoracic and lumbar spinal nerves[Stedmans]." [http://www.medilexicon.com/medicaldictionary.php?s=longissimus+thoracis+%28muscle%29, Wikipedia:Longissimus#Longissimus_thoracis] subset: human_reference_atlas subset: uberon_slim synonym: "longissimus dorsi" EXACT [BTO:0001651] synonym: "longissimus dorsi muscle" EXACT [] synonym: "longissimus thoracis" EXACT [MA:0002339] synonym: "musculus longissimus dorsi" EXACT LATIN [http://www.medilexicon.com/medicaldictionary.php?s=longissimus+thoracis+%28muscle%29] synonym: "musculus longissimus thoracis" EXACT LATIN [BTO:0001651] xref: AAO:0010775 xref: BTO:0001651 xref: EMAPA:37653 {source="MA:th"} xref: FMA:22709 xref: MA:0002339 xref: NCIT:C53169 xref: SCTID:244859003 xref: UMLS:C0224307 {source="ncithesaurus:Longissimus_Thoracis"} xref: Wikipedia:Longissimus#Longissimus_thoracis is_a: UBERON:0014892 ! skeletal muscle organ property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/1/1f/Longissimus.png xsd:anyURI property_value: external_definition "Epaxial muscle which originates on the antero-lateral urostyle and inserts variably along the neural spines and transverse processes of the presacral vertebrae to the exoccipital bone.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010775", ontology="AAO", source="AAO:MEJ"} property_value: IAO:0000116 "TODO - add logical definition to determine if AAO class belongs here. Classified as erector spinae in AAO" xsd:string property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001415 name: skin of pelvis namespace: uberon def: "A zone of skin that is part of a pelvis [Automatically generated definition]." [OBOL:automatic] synonym: "pelvic skin" EXACT [] synonym: "pelvis skin" EXACT [] synonym: "pelvis zone of skin" EXACT [OBOL:automatic] synonym: "zone of skin of pelvis" EXACT [OBOL:automatic] xref: EMAPA:37282 {source="MA:th"} xref: FMA:22984 xref: MA:0000546 xref: SCTID:181517009 is_a: UBERON:0000014 ! zone of skin intersection_of: UBERON:0000014 ! zone of skin intersection_of: part_of UBERON:0002355 ! pelvic region of trunk relationship: part_of UBERON:0002100 ! trunk relationship: part_of UBERON:0002355 ! pelvic region of trunk [Term] id: UBERON:0001416 name: skin of abdomen namespace: uberon def: "A zone of skin that is part of an abdomen [Automatically generated definition]." [OBOL:automatic] subset: efo_slim subset: pheno_slim synonym: "abdomen skin" EXACT [] synonym: "abdomen zone of skin" EXACT [OBOL:automatic] synonym: "abdominal skin" EXACT [] synonym: "skin of abdomen proper" EXACT [FMA:22988] synonym: "zone of skin of abdomen" EXACT [OBOL:automatic] xref: EFO:0000214 xref: FMA:22988 xref: FMA:23000 xref: MA:0000523 xref: NCIT:C52758 xref: SCTID:361707007 xref: UMLS:C0222166 {source="ncithesaurus:Abdominal_Skin"} is_a: UBERON:0000014 ! zone of skin intersection_of: UBERON:0000014 ! zone of skin intersection_of: part_of UBERON:0000916 ! abdomen relationship: part_of UBERON:0000916 ! abdomen relationship: part_of UBERON:0002100 ! trunk [Term] id: UBERON:0001423 name: radius bone namespace: uberon def: "The major preaxial endochondral bone in the anterior zeugopod[Phenoscape]." [PHENOSCAPE:mah] comment: Due to the presence of the radius in Tetrpodomorph fish this element is not inherently linked to the presence of digits or flexor musculature. The corresponding bone in the posterior fin/limb is the tibia.[Phenoscape]. In four-legged animals, the radius is the main load-bearing bone of the lower forelimb. Its structure is similar in most terrestrial tetrapods, but it may be fused with the ulna in some mammals (such as horses) and reduced or modified in animals with flippers or vestigial forelimbs [ISBN:0-03-910284-X] subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "radius" EXACT [MA:0001357] xref: AAO:0000788 xref: CALOHA:TS-2199 xref: EMAPA:19103 xref: FMA:23463 xref: GAID:185 xref: galen:Radius xref: MA:0001357 xref: MESH:D011884 xref: NCIT:C12777 xref: SCTID:181940002 xref: UMLS:C0034627 {source="ncithesaurus:Radius_Bone"} xref: VSAO:0005012 xref: Wikipedia:Radius_(bone) is_a: UBERON:0002428 ! limb bone relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001434 ! skeletal system relationship: part_of UBERON:0001460 ! arm relationship: part_of UBERON:0002091 ! appendicular skeleton relationship: part_of UBERON:0002101 ! limb relationship: part_of UBERON:0002102 ! forelimb relationship: part_of UBERON:0002386 ! forelimb zeugopod property_value: external_definition "One of the two long bones of endochondral origin of the fore-epipodium; it is located on the lateral side of the ulna. Its upper end articulates with both the humerus and the ulna, whereas the lower articulates with the carpals.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000788", ontology="AAO", source="AAO:LAP"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001434 name: skeletal system namespace: uberon def: "Anatomical system that is a multi-element, multi-tissue anatomical cluster that consists of the skeleton and the articular system." [GO_REF:0000034, http://dx.plos.org/10.1371/journal.pone.0051070, VSAO:0000027] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "set of all bones and joints" NARROW SENSU [] synonym: "skeleton system" EXACT [] synonym: "Skelettsystem" RELATED [BTO:0001486] xref: AAO:0000566 xref: BTO:0001486 xref: CALOHA:TS-1320 xref: EFO:0000806 xref: EHDAA2:0003168 xref: EMAPA:35773 xref: FMA:23881 xref: MA:0000018 xref: NCIT:C12788 xref: TAO:0000434 xref: UMLS:C0037253 {source="ncithesaurus:Skeletal_System"} xref: VHOG:0001254 xref: VSAO:0000027 xref: XAO:0003060 xref: ZFA:0000434 is_a: UBERON:0000061 ! anatomical structure disjoint_from: UBERON:0001474 ! bone element disjoint_from: UBERON:0002204 ! musculoskeletal system disjoint_from: UBERON:0002294 ! biliary system disjoint_from: UBERON:0002390 ! hematopoietic system disjoint_from: UBERON:0002405 ! immune system disjoint_from: UBERON:0002416 ! integumental system disjoint_from: UBERON:0002423 ! hepatobiliary system relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0002204 ! musculoskeletal system property_value: external_definition "Anatomical system consisting of multiple elements and tissues that provides physical support.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000434", ontology="TAO", source="TAO:wd"} property_value: external_definition "Anatomical system that is a multi-element, multi-tissue anatomical cluster that consists of the skeleton and the articular system.[VSAO]" xsd:string {date_retrieved="2012-08-14", external_class="VSAO:0000027", ontology="VSAO", source="GO_REF:0000034, http://dx.plos.org/10.1371/journal.pone.0051070", source="PSPUB:0000170"} property_value: external_definition "System that provides physical support to the organism.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000566", ontology="AAO", source="AAO:LAP"} property_value: has_relational_adjective "skeletal" xsd:string property_value: homology_notes "By taking a holistic approach, integration of the evidence from molecular and developmental features of model organisms, the phylogenetic distribution in the 'new animal phylogeny' and the earliest fossilized remains of mineralized animal skeletons suggests independent origins of the skeleton at the phylum level.[debated][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001254", ontology="VHOG", source="DOI:10.1159/000324245 Donoghue PCJ, Sansom IJ, Origin and early evolution of vertebrate skeletonization. Microscopy research and technique (2002)", source="http://bgee.unil.ch/"} property_value: RO:0002171 UBERON:0001016 property_value: seeAlso https://github.com/obophenotype/uberon/wiki/The-skeletal-system xsd:anyURI property_value: UBPROP:0000012 "GO defines skeletal system very generically: The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton) GO:0001501; however, all annotations are to vertebrates" xsd:string {external_ontology="GO"} [Term] id: UBERON:0001443 name: chest namespace: uberon def: "Subdivision of trunk proper, which is demarcated from the neck by the plane of the superior thoracic aperture and from the abdomen internally by the inferior surface of the diaphragm and externally by the costal margin and associated with the thoracic vertebral column and ribcage and from the back of the thorax by the external surface of the posterolateral part of the rib cage, the anterior surface of the thoracic vertebral column and the posterior axillary lines; together with the abdomen and the perineum, it constitutes the trunk proper[FMA]." [FMA:9576, Wikipedia:Chest] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "anterolateral part of thorax" EXACT [] synonym: "front of thorax" EXACT [] synonym: "pectus" EXACT LATIN [FMA:24816, FMA:TA] synonym: "thoracic body wall" RELATED [MA:0000031] synonym: "thorax" RELATED LATIN [FMA:9576, Wikipedia:Chest] synonym: "ventral part of thoracic region" EXACT [] xref: BTO:0001368 xref: CALOHA:TS-1039 xref: EFO:0000965 xref: EMAPA:37232 {source="MA:th"} xref: EV:0100010 xref: FMA:9576 xref: GAID:91 xref: galen:Chest xref: galen:Thorax xref: MA:0000031 xref: MAT:0000295 xref: MESH:D013909 xref: MIAA:0000295 xref: NCIT:C12799 xref: NCIT:C25389 xref: UMLS:C0817096 {source="ncithesaurus:Thorax"} xref: UMLS:C1527391 {source="ncithesaurus:Chest"} xref: Wikipedia:Chest is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000915 ! thoracic segment of trunk relationship: part_of UBERON:0002100 ! trunk property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/d/db/Chest.jpg xsd:anyURI property_value: has_relational_adjective "pectoral" xsd:string property_value: has_relational_adjective "thoracic" xsd:string property_value: IAO:0000116 "FMA:24216 present in FMA1, but gone in subsequent versions" xsd:string property_value: RO:0002171 UBERON:0000916 [Term] id: UBERON:0001446 name: fibula namespace: uberon def: "The major postaxial endochondral bone in the posterior zeugopod[Phenoscape]." [PHENOSCAPE:mah] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim xref: AAO:0000891 xref: BTO:0002346 xref: CALOHA:TS-2203 xref: EFO:0003052 xref: EMAPA:19141 xref: FMA:24479 xref: GAID:202 xref: galen:Fibula xref: MA:0001360 xref: MESH:D005360 xref: NCIT:C12718 xref: SCTID:302529003 xref: UMLS:C0016068 {source="ncithesaurus:Fibula"} xref: Wikipedia:Fibula is_a: UBERON:0003464 ! hindlimb bone relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0000978 ! leg relationship: part_of UBERON:0001434 ! skeletal system relationship: part_of UBERON:0002091 ! appendicular skeleton relationship: part_of UBERON:0002101 ! limb relationship: part_of UBERON:0002103 ! hindlimb property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/1/16/Illu_lower_extremity.jpg xsd:anyURI property_value: external_definition "One of the two long bones of endochondral origin of the hind-epipodium; it is a rather more slender bone than the tibia but of about the same length.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000891", ontology="AAO", source="AAO:LAP"} property_value: has_relational_adjective "fibular" xsd:string property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001450 name: calcaneus namespace: uberon def: "The postaxial bone of the proximal tarsals series[Phenoscape]." [https://github.com/obophenotype/uberon/issues/72, PHENOSCAPE:mah] subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "calcaneal bone" EXACT [BTO:0002355] synonym: "calcanei" RELATED PLURAL [] synonym: "calcaneum" EXACT [MA:0001348] synonym: "calcaneus bone" EXACT [UBERON:cjm] synonym: "fibulare" RELATED [AAO:0000913, ISBN:0073040584, VSAO:0005016, Wikipedia:Calcaneus] synonym: "heel bone" RELATED [BTO:0002355] synonym: "os calcis" EXACT LATIN [FMA:24496] synonym: "os tarsi fibulare" RELATED [BTO:0002355] xref: BTO:0002355 xref: EMAPA:19134 xref: FMA:24496 xref: galen:Calcaneum xref: MA:0001348 xref: MESH:D002111 xref: NCIT:C32250 xref: SCTID:182099002 xref: UMLS:C0006655 {source="ncithesaurus:Calcaneum"} xref: VSAO:0005016 xref: Wikipedia:Calcaneus is_a: UBERON:0003464 ! hindlimb bone relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001434 ! skeletal system relationship: part_of UBERON:0002101 ! limb relationship: part_of UBERON:0002103 ! hindlimb relationship: part_of UBERON:0002387 ! pes relationship: part_of UBERON:0004454 ! tarsal region property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/a/a9/Subtalar_Joint.PNG xsd:anyURI property_value: has_relational_adjective "calcaneal" xsd:string property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/alex-dececchi property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/cmungall property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/mellybelly property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "synonymous with the fibulare of basal tetrapods." xsd:string [Term] id: UBERON:0001460 name: arm namespace: uberon def: "The part of the forelimb extending from the shoulder to the autopod[cjm]." [Wikipedia:Arm] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "brachium" RELATED LATIN [Wikipedia:Arm] synonym: "upper extremity" RELATED [MESH:A01.378.800] xref: BTO:0001435 xref: CALOHA:TS-2204 xref: EFO:0001410 xref: EHDAA2:0000140 xref: EHDAA:4164 xref: EHDAA:6210 xref: EHDAA:8275 xref: EMAPA:17413 xref: GAID:52 xref: MA:0000033 xref: MESH:D001132 xref: VHOG:0000339 xref: Wikipedia:Arm is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000026 ! appendage relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0002101 ! limb relationship: part_of UBERON:0002102 ! forelimb property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/e/ee/Upperarm.jpg xsd:anyURI property_value: homology_notes "Most anatomists now agree that the three proximal bones of the tetrapod limbs are homologous to the two or three proximal elements of the paired fin skeleton of other sarcopterygians, that is the humerus-femur, radius-tibia, and ulna-fibula.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000339", ontology="VHOG", source="ISBN:978-0198540472 Janvier P, Early vertebrates (1996) p.268", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "currently declared as overlapping hand, as AOs disagree over whether some wrist parts are in the arm or hand" xsd:string property_value: IAO:0000232 "this class refers to the combination of the stylopod and zeugopod of a forelimb. Sometimes (cf FMA), 'arm' denotes the stylopod only; sometimes (cf MA), 'arm' denotes the part of the forelimb covering both (i.e. shoulder to hand). Also note distinction between arm and forelimb: hand is part of forelimb, but not part of arm" xsd:string [Term] id: UBERON:0001461 name: elbow namespace: uberon def: "The elbow is the region surrounding the elbow-joint-the ginglymus or hinge joint in the middle of the arm. Three bones form the elbow joint: the humerus of the upper arm, and the paired radius and ulna of the forearm. The bony prominence at the very tip of the elbow is the olecranon process of the ulna, and the inner aspect of the elbow is called the antecubital fossa. [WP,unvetted,human-specific]." [Wikipedia:Elbow] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "articulatio cubiti" RELATED LATIN [Wikipedia:Elbow] synonym: "cubital region" EXACT [] synonym: "elbow limb segment" EXACT [] synonym: "elbow region" EXACT [] xref: CALOHA:TS-2222 xref: EFO:0003069 xref: EHDAA2:0000429 xref: EHDAA:4166 xref: EHDAA:6212 xref: EMAPA:17414 xref: FMA:24901 xref: GAID:54 xref: galen:Elbow xref: MA:0000036 xref: MESH:D004550 xref: SCTID:76248009 xref: VHOG:0000340 xref: Wikipedia:Elbow is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000026 ! appendage relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0001460 ! arm relationship: part_of UBERON:0002101 ! limb relationship: part_of UBERON:0002102 ! forelimb property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/5/5c/Elbow_coude.JPG xsd:anyURI property_value: has_relational_adjective "cubital" xsd:string property_value: UBPROP:0000013 "Naming conventions for pod terms under discussion within phenoscape group" xsd:string [Term] id: UBERON:0001464 name: hip namespace: uberon def: "The hip region is located lateral to the gluteal region (i.e. the buttock), inferior to the iliac crest, and overlying the greater trochanter of the thigh bone. In adults, three of the bones of the pelvis have fused into the hip bone which forms part of the hip region. The hip joint, scientifically referred to as the acetabulofemoral joint (art. coxae), is the joint between the femur and acetabulum of the pelvis and its primary function is to support the weight of the body in both static (e.g. standing) and dynamic (e.g. walking or running) postures. [WP,modified]." [Wikipedia:Hip] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "coxa" RELATED LATIN [Wikipedia:Hip] synonym: "hip region" EXACT [FMA:24964] synonym: "regio coxae" EXACT [FMA:24964] xref: BTO:0001457 xref: CALOHA:TS-2226 xref: EFO:0001929 xref: EHDAA2:0000783 xref: EHDAA:5153 xref: EHDAA:6178 xref: EMAPA:17490 xref: FMA:24964 xref: GAID:47 xref: galen:Hip xref: MA:0000045 xref: MESH:D006615 xref: NCIT:C64193 xref: SCTID:302543008 xref: UMLS:C0019552 {source="ncithesaurus:Hip"} xref: VHOG:0000346 xref: Wikipedia:Hip is_a: EFO:0000808 ! animal body part relationship: part_of UBERON:0000468 ! multicellular organism property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/9/9f/Hip.jpg xsd:anyURI property_value: has_relational_adjective "coxal" xsd:string property_value: homology_notes "The pelvic girdle is never joined by contributions of dermal bone. From its first appearance in placoderms, the pelvic girdle is exclusively endoskeletal. It arose from pterygiophores, perhaps several times, in support of the fin.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000346", ontology="VHOG", source="ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.333", source="http://bgee.unil.ch/"} property_value: UBPROP:0000012 "See notes for shoulder. in BTO this is part of the abdomen - this creates an inconsistency if limb and abdomen are spatially disjoint" xsd:string {external_ontology="BTO"} [Term] id: UBERON:0001465 name: knee namespace: uberon def: "A segment of the hindlimb that corresponds to the joint connecting a hindlimb stylopod and zeugopod." [https://orcid.org/0000-0002-6601-2165] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "knee region" EXACT [] xref: BTO:0003595 xref: CALOHA:TS-2220 xref: EHDAA2:0000895 xref: EHDAA:5159 xref: EHDAA:6184 xref: EMAPA:17493 xref: FMA:24974 xref: GAID:48 xref: galen:Knee xref: MA:0000046 xref: MESH:D007717 xref: SCTID:361291001 xref: VHOG:0000347 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000026 ! appendage relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000978 ! leg relationship: part_of UBERON:0002101 ! limb relationship: part_of UBERON:0002103 ! hindlimb property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/8/8d/Male_Knee_by_David_Shankbone.jpg xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001467 name: shoulder namespace: uberon def: "A subdivision of the pectoral complex consisting of the structures in the region of the shoulder joint (which connects the humerus, scapula and clavicle)." [http://orcid.org/0000-0002-6601-2165] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "articulatio humeri" RELATED LATIN [Wikipedia:Shoulder] synonym: "shoulder region" EXACT [] xref: CALOHA:TS-2229 xref: EFO:0003068 xref: EHDAA2:0001834 xref: EHDAA:4180 xref: EHDAA:6228 xref: EMAPA:17421 xref: FMA:25202 xref: GAID:60 xref: galen:Shoulder xref: MA:0000038 xref: MESH:D012782 xref: NCIT:C25203 xref: SCTID:361103004 xref: UMLS:C0037004 {source="ncithesaurus:Shoulder"} xref: VHOG:0000342 xref: Wikipedia:Shoulder is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000468 ! multicellular organism property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/9/90/Shoulderjoint.PNG xsd:anyURI property_value: homology_notes "(...) endochondral elements of the early tetrapod shoulder develop from two centers of ossification, giving rise to a scapula and a 'coracoid'.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000342", ontology="VHOG", source="ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.332", source="http://bgee.unil.ch/"} property_value: UBPROP:0000012 "In FMA, the shoulder is part of the pectoral girdle region. in MA, shoulder structures like shoulder joints, bones, nerves etc are part of the shoulder and the forelimb. E.g. humerus is a shoulder bone" xsd:string {external_ontology="FMA"} [Term] id: UBERON:0001471 name: skin of prepuce of penis namespace: uberon def: "The loose fold of skin that covers the penis." [MP:0003553, NCBI:matt] subset: pheno_slim synonym: "foreskin of penis" EXACT [] synonym: "penis foreskin" EXACT [] synonym: "preputial skin" EXACT [] xref: EV:0100109 xref: FMA:27648 xref: MA:0001744 xref: SCTID:39059001 xref: VHOG:0001342 is_a: UBERON:0000014 ! zone of skin intersection_of: UBERON:0000014 ! zone of skin intersection_of: part_of UBERON:0001332 ! prepuce of penis relationship: part_of UBERON:0000989 ! penis relationship: part_of UBERON:0000990 ! reproductive system relationship: part_of UBERON:0001332 ! prepuce of penis [Term] id: UBERON:0001473 name: lymphatic vessel namespace: uberon def: "A vessel that contains or conveys lymph, that originates as an interfibrillar or intercellular cleft or space in a tissue or organ, and that if small has no distinct walls or walls composed only of endothelial cells and if large resembles a vein in structure[BTO]." [BTO:0000752, Wikipedia:Lymphatic_vessel] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "lymph vessel" EXACT [] synonym: "vas lymphaticum" RELATED LATIN [Wikipedia:Lymphatic_vessel] xref: AAO:0011005 xref: BTO:0000752 xref: CALOHA:TS-2102 xref: EFO:0000873 xref: EMAPA:35532 xref: FMA:30315 xref: MA:0000138 xref: MAT:0000443 xref: MESH:D042601 xref: NCIT:C33038 xref: SCTID:279089004 xref: TAO:0005105 xref: UMLS:C0229889 {source="ncithesaurus:Lymphatic_Vessel"} xref: VHOG:0001249 xref: Wikipedia:Lymphatic_vessel xref: XAO:0000375 is_a: UBERON:0000055 ! vessel disjoint_from: UBERON:0001981 ! blood vessel relationship: part_of UBERON:0006558 ! lymphatic part of lymphoid system relationship: RO:0002174 NCBITaxon:8342 {source="DOI:10.1152/japplphysiol.00201.2013"} ! dubious_for_taxon property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/4/44/Illu_lymph_capillary.jpg xsd:anyURI property_value: external_definition "A network of blunt ended vessels lacking direct connection to the blood vascular system. These vessels collect and drain fluids and macromolecules from interstitial spaces throughout the animal. They derive from a subpopulation of endothelial cells and have walls that are much thinner than the blood carrying vessels. Lymphatic vessels are usually classified as either superficial or deep.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0005105", ontology="TAO", source="ZFIN:curator"} property_value: external_definition "A vessel that contains or conveys lymph.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0011005", ontology="AAO", source="AAO:EJS"} property_value: homology_notes "Tetrapods have evolved distinct lymphatic systems, in which lymphatic capillaries help drain most of the tissues of the body.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001249", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.627", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001474 name: bone element namespace: uberon def: "Skeletal element that is composed of bone tissue." [GO_REF:0000034, http://dx.plos.org/10.1371/journal.pone.0051070, https://github.com/obophenotype/uberon/issues/277, PSPUB:0000170, VSAO:0000057] subset: efo_slim subset: major_organ subset: organ_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "bone" RELATED [AEO:0000082, BTO:0000140, MA:0001459, VHOG:0001190] synonym: "bone organ" EXACT [FMA:5018] synonym: "bones" RELATED PLURAL [ZFA:0001514] xref: AAO:0000047 xref: AEO:0000082 xref: BTO:0000140 xref: CALOHA:TS-0088 xref: EFO:0000298 xref: EHDAA2:0003082 xref: EMAPA:32782 xref: ENVO:00002039 xref: EV:0100140 xref: FMA:30317 xref: FMA:5018 xref: GAID:92 xref: galen:Bone xref: MA:0001459 xref: MAT:0000299 xref: MIAA:0000299 xref: NCIT:C12366 xref: SCTID:90780006 xref: TAO:0001514 xref: UMLS:C0262950 {source="ncithesaurus:Bone"} xref: VHOG:0001190 xref: VSAO:0000057 xref: Wikipedia:Bone xref: XAO:0000169 xref: ZFA:0001514 is_a: EFO:0003858 ! skeleton structure relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001434 ! skeletal system property_value: axiom_lost_from_external_ontology "relationship loss: subclass specialized connective tissue (AAO:0000571)[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000047", ontology="AAO"} property_value: external_definition "Also called osseous tissue, (Latin: os). Is a type of hard endoskeletal connective tissue found in many vertebrate animals. Bone is the main tissue of body organs that support body structures, protect internal organs, (in conjunction with muscles) facilitate movement; and are involved with cell formation, calcium metabolism, and mineral storage.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000047", ontology="AAO", source="AAO:LAP"} property_value: external_definition "Portion of tissue which is calcified connective tissue making up the structural elements of the skeletal system.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0001514", ontology="TAO", source="ZFIN:curator"} property_value: external_definition "Skeletal element that is composed of bone tissue.[VSAO]" xsd:string {date_retrieved="2012-08-14", external_class="VSAO:0000057", ontology="VSAO", source="PSPUB:0000170"} property_value: homology_notes "The 'new animal phylogeny' reveals that many of the groups known to biomineralize sit among close relatives that do not, and it favours an interpretation of convergent or parallel evolution for biomineralization in animals. (...) Whether this 'biomineralization toolkit'of genes reflects a parallel co-option of a common suite of genes or the inheritance of a skeletogenic gene regulatory network from a biomineralizing common ancestor remains an open debate.[debated][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001190", ontology="VHOG", source="DOI:10.1159/000324245 Murdock DJ, Donoghue PC, Evolutionary Origins of Animal Skeletal Biomineralization. Cells Tissues Organs (2011)", source="http://bgee.unil.ch/"} property_value: RO:0002171 UBERON:0001015 property_value: RO:0002171 UBERON:0001630 property_value: RO:0002171 UBERON:0002385 [Term] id: UBERON:0001476 name: deltoid namespace: uberon def: "A muscle of shoulder which attaches to the scapula, clavicle and humerus.[FMA,generalized]." [FMA:32521, http://orcid.org/0000-0002-6601-2165] comment: We use a generic definition that includes the deltoideus as represented in AAO: 'Muscle which originates as three heads, the pars externalis, pars clavicularis, and pars scapularis. The pars externalis originates from the lateral border of the omosternum and inserts on the distal portion of the humerus. The pars clavicularis originates from the ventro-lateral surface of the clavicle and inserts on the deltoid crest of the humerus. The pars scapularis originates from the lateral surface of the clavicle and inserts on the deltoid crest of the humerus'. Kardong: Dorsal group subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "common shoulder muscle" RELATED [Wikipedia:Deltoid_muscle] synonym: "deltoid muscle" EXACT [Wikipedia:Deltoid_muscle] synonym: "deltoideus" RELATED [Wikipedia:Deltoid_muscle] synonym: "deltoideus muscle" RELATED [Wikipedia:Deltoid_muscle] synonym: "m. deltoideus" EXACT [AAO:0010716] synonym: "musculus deltoideus" EXACT [Wikipedia:Deltoid_muscle] synonym: "musculus deltoideus" RELATED LATIN [Wikipedia:Deltoid_muscle] xref: AAO:0010716 xref: EFO:0001412 xref: EHDAA2:0000339 xref: EMAPA:18177 xref: FMA:32521 xref: MA:0002286 xref: NCIT:C32446 xref: SCTID:181620007 xref: UMLS:C0224234 {source="ncithesaurus:Deltoid"} xref: VHOG:0000846 xref: Wikipedia:Deltoid_muscle is_a: UBERON:0014892 ! skeletal muscle organ property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/9/93/Deltoideus.png xsd:anyURI property_value: external_definition "Muscle which originates as three heads, the pars externalis, pars clavicularis, and pars scapularis. The pars externalis originates from the lateral border of the omosternum and inserts on the distal portion of the humerus. The pars clavicularis originates from the ventro-lateral surface of the clavicle and inserts on the deltoid crest of the humerus. The pars scapularis originates from the lateral surface of the clavicle and inserts on the deltoid crest of the humerus.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010716", ontology="AAO", source="AAO:MEJ"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001485 name: knee joint namespace: uberon def: "The knee joint joins the thigh with the leg and consists of two articulations: one between the femur and tibia, and one between the femur and patella. It is the largest and most complicated joint in the human body. The knee is a mobile trocho-ginglymus (i.e. a pivotal hinge joint), which permits flexion and extension as well as a slight medial and lateral rotation[WP,unvetted]." [Wikipedia:Knee] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "articulatio genus" RELATED LATIN [Wikipedia:Knee] synonym: "joint of knee" EXACT [OBOL:automatic] xref: EFO:0001957 xref: EMAPA:19137 xref: FMA:35175 xref: GAID:114 xref: galen:KneeJoint xref: MA:0000471 xref: MESH:D007719 xref: NCIT:C32898 xref: SCTID:182204005 xref: UMLS:C0022745 {source="ncithesaurus:Knee_Joint"} xref: VHOG:0001003 xref: Wikipedia:Knee is_a: UBERON:0000982 ! skeletal joint relationship: part_of UBERON:0001465 ! knee relationship: part_of UBERON:0002101 ! limb relationship: part_of UBERON:0002103 ! hindlimb property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/c/ca/Knee.agr.jpg xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001488 name: ankle joint namespace: uberon def: "A joint that connects the hindlimb autopod and zeugopod skeletons." [https://orcid.org/0000-0002-6601-2165, MESH:A02.835.583.378.062, Wikipedia:Ankle] subset: efo_slim subset: uberon_slim synonym: "gambrel" NARROW [Wikipedia:Hock_(anatomy)] synonym: "hock" NARROW [Wikipedia:Hock_(anatomy)] synonym: "hock joint" NARROW [Wikipedia:Hock_(anatomy)] synonym: "mortise joint" RELATED [BTO:0004706] synonym: "talocrural articulation" RELATED [Wikipedia:Ankle] synonym: "talocrural joint" RELATED [Wikipedia:Ankle] synonym: "talotibial joint" NARROW [Wikipedia:Ankle] xref: BTO:0004706 xref: EMAPA:35126 xref: FMA:35195 xref: GAID:257 xref: galen:AnkleJoint xref: MA:0000463 xref: MESH:D000843 xref: NCIT:C32078 xref: SCTID:182212002 xref: UMLS:C0003087 {source="ncithesaurus:Ankle_Joint"} xref: Wikipedia:Ankle is_a: UBERON:0000982 ! skeletal joint relationship: part_of UBERON:0002101 ! limb relationship: part_of UBERON:0002103 ! hindlimb property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/b/bf/Ankle_en.svg xsd:anyURI property_value: taxon_notes "todo - accurately represent different types of ankle joint" xsd:string [Term] id: UBERON:0001495 name: pectoral muscle namespace: uberon def: "Muscles of the upper chest. The term may refer to one of two muscles, the pectoralis major and pectoralis minor. The former is a thick muscle in the anterior portion of the chest. Its action involves flexion, medial rotation, and adduction of the humerus. The latter is a thin muscle located beneath the pectoralis major. Its action involves lowering the scapula and raising the ribs." [ncithesaurus:Pectoralis_Muscle] comment: This currently groups the major and minor muscles (which have different attachment sites) as well as the AAO structure: Muscle which is comprised of three heads. The anterior head is the portio epicoracoidea that originates on the epicoracoid cartilage and inserts on the deltoid crest of the humerus. The next more posterior head, portio sternalis, originates on the sternum and inserts in the groove next to the deltoid crest of the humerus. The most posterior head, portio abdominalis, arises from the M. rectus abdominis and inserts on the deltoid crest of the humerus subset: grouping_class subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "breast muscle" RELATED [BTO:0000023] synonym: "M. pectoralis" EXACT [AAO:0010727] synonym: "muscle of pectoral part of chest" EXACT [FMA:37349] synonym: "muscle of pectoral region" EXACT [FMA:37349] synonym: "pectoralis" RELATED [] synonym: "pectoralis group muscle" RELATED [] synonym: "pectoralis muscle" RELATED [BTO:0000023] xref: AAO:0010727 xref: BTO:0000023 xref: CALOHA:TS-0751 xref: EMAPA:35670 xref: FMA:37349 xref: GAID:153 xref: MA:0002423 xref: MESH:D010369 xref: NCIT:C33286 xref: SCTID:181621006 xref: UMLS:C0030747 {source="ncithesaurus:Pectoralis_Muscle"} is_a: UBERON:0001774 ! skeletal muscle of trunk relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0000915 ! thoracic segment of trunk relationship: part_of UBERON:0002100 ! trunk property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/6/6c/Pectoralis_major.png xsd:anyURI property_value: external_definition "Muscle which is comprised of three heads. The anterior head is the portio epicoracoidea that originates on the epicoracoid cartilage and inserts on the deltoid crest of the humerus. The next more posterior head, portio sternalis, originates on the sternum and inserts in the groove next to the deltoid crest of the humerus. The most posterior head, portio abdominalis, arises from the M. rectus abdominis and inserts on the deltoid crest of the humerus.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010727", ontology="AAO", source="AAO:MEJ"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001507 name: biceps brachii namespace: uberon def: "A muscle in the forelimb stylopod which in humans has several functions, the most important being to rotate the forearm and to flex the elbow. [WP,unvetted]." [Wikipedia:Biceps_brachii_muscle] subset: pheno_slim subset: uberon_slim synonym: "biceps" BROAD [EHDAA2:0000167] synonym: "biceps brachii %26 brachialis muscles" RELATED [Wikipedia:Biceps_brachii_muscle] synonym: "biceps brachii muscle" RELATED [Wikipedia:Biceps_brachii_muscle] synonym: "biceps cubiti" RELATED [Wikipedia:Biceps_brachii_muscle] synonym: "biceps muscle" RELATED [Wikipedia:Biceps_brachii_muscle] synonym: "musculus biceps brachii" RELATED LATIN [Wikipedia:Biceps_brachii_muscle] xref: BTO:0003419 xref: EHDAA2:0000167 xref: EHDAA:8279 xref: EMAPA:19108 xref: FMA:37670 xref: MA:0002269 xref: NCIT:C32200 xref: SCTID:265802004 xref: UMLS:C0559499 {source="ncithesaurus:Biceps"} xref: VHOG:0000861 xref: Wikipedia:Biceps_brachii_muscle is_a: UBERON:0014892 ! skeletal muscle organ relationship: part_of UBERON:0001460 ! arm relationship: part_of UBERON:0002101 ! limb relationship: part_of UBERON:0002102 ! forelimb property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/5/5d/Biceps_brachii_muscle06.png xsd:anyURI [Term] id: UBERON:0001515 name: thoracic aorta namespace: uberon def: "The part of the aorta that extends from the origin at the heart to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest." [http://www.medterms.com, MP:0010468] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "aorta thoracalis" RELATED LATIN [Wikipedia:Thoracic_aorta] synonym: "aorta thoracica" EXACT LATIN [FMA:3786, FMA:TA] synonym: "pars thoracica aortae" RELATED LATIN [Wikipedia:Thoracic_aorta] synonym: "thoracic part of aorta" EXACT [] xref: BTO:0000157 xref: EFO:0002525 xref: EMAPA:18603 xref: FMA:3786 xref: GAID:471 xref: galen:ThoracicAorta xref: MA:0002569 xref: MESH:D001013 xref: NCIT:C33766 xref: SCTID:302510009 xref: UMLS:C1522460 {source="ncithesaurus:Thoracic_Aorta"} xref: Wikipedia:Thoracic_aorta is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000915 ! thoracic segment of trunk relationship: part_of UBERON:0000947 ! aorta property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/7/75/Gray530.png xsd:anyURI [Term] id: UBERON:0001516 name: abdominal aorta namespace: uberon def: "Abdominal part of aorta: the distal part of the descending aorta, which is the continuation of the thoracic part and gives rise to the inferior phrenic, lumbar, median sacral, superior and inferior mesenteric, middle suprarenal, renal, and testicular or ovarian arteries, and celiac trunk[BTO]. The abdominal aorta is the largest artery in the abdominal cavity. As part of the aorta, it is a direct continuation of descending aorta(of the thorax). [WP,unvetted]." [BTO:0002976, Wikipedia:Abdominal_aorta] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "abdominal part of aorta" EXACT [FMA:3789] synonym: "abdominal part of aorta" RELATED [BTO:0002976] synonym: "aorta abdominalis" RELATED LATIN [BTO:0002976, Wikipedia:Abdominal_aorta] synonym: "descending abdominal aorta" EXACT [FMA:3789] synonym: "pars abdominalis aortae" EXACT [FMA:3789] synonym: "pars abdominalis aortae" RELATED LATIN [BTO:0002976, Wikipedia:Abdominal_aorta] xref: BTO:0002976 xref: EFO:0002524 xref: EMAPA:17856 xref: FMA:3789 xref: GAID:470 xref: galen:AbdominalAorta xref: MA:0000474 xref: MESH:D001012 xref: NCIT:C32038 xref: SCTID:244231007 xref: UMLS:C0003484 {source="ncithesaurus:Abdominal_Aorta"} xref: Wikipedia:Abdominal_aorta is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000947 ! aorta property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/a/af/Gray531.png xsd:anyURI property_value: IAO:0000116 "Many of the branches of the abdominal aorta in mammals may be branches of the dorsal aorta in other vertebrates" xsd:string property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001529 name: brachiocephalic artery namespace: uberon def: "The short first aortic arch branch and divides into the right subclavian artery and the right common carotid artery." [MGI:csmith, MP:0010663] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "brachiocephalic trunk" EXACT [MA:0001922] synonym: "innominate" BROAD [Wikipedia:Brachiocephalic_artery] synonym: "innominate artery" EXACT [Wikipedia:Brachiocephalic_artery] synonym: "truncus brachiocephalicus" EXACT LATIN [FMA:3932, FMA:TA] synonym: "truncus brachiocephalicus" RELATED LATIN [Wikipedia:Brachiocephalic_artery] xref: EFO:0002550 xref: EHDAA2:0000835 xref: EMAPA:17615 xref: FMA:3932 xref: GAID:476 xref: galen:BrachioCephalicArtery xref: MA:0001922 xref: MESH:D016122 xref: NCIT:C32814 xref: SCTID:244244002 xref: UMLS:C0006094 {source="ncithesaurus:Innominate_Artery"} xref: Wikipedia:Brachiocephalic_artery is_a: UBERON:0001637 ! artery property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/e/e6/Gray506.svg xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001532 name: internal carotid artery namespace: uberon def: "A terminal branch of the left or right common carotid artery which supplies oxygenated blood to the brain and eyes[MP]." [MGI:anna] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "arteria carotis interna" RELATED LATIN [Wikipedia:Internal_carotid_artery] synonym: "cranial carotid artery" EXACT [ZFA:0005081] synonym: "ICA" RELATED ABBREVIATION [] synonym: "internal carotid" EXACT [AAO:0010219] xref: AAO:0010219 xref: AAO:0011054 xref: BTO:0004697 xref: EFO:0001952 xref: EHDAA2:0000873 xref: EHDAA:408 xref: EHDAA:6389 xref: EMAPA:16328 xref: FMA:3947 xref: GAID:481 xref: MA:0001930 xref: MESH:D002343 xref: NCIT:C32836 xref: SCTID:362045001 xref: TAO:0005081 xref: UMLS:C0007276 {source="ncithesaurus:Internal_Carotid_Artery"} xref: VHOG:0000267 xref: Wikipedia:Internal_carotid_artery xref: XAO:0000366 xref: ZFA:0005081 is_a: UBERON:0005396 ! carotid artery segment relationship: part_of UBERON:0000033 ! head property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/9/9c/Gray513.png xsd:anyURI property_value: external_definition "Each of two arteries starting at the bifurcation of the common carotid arteries through which blood circulates to many structures and organs in the head. [TFD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000267", ontology="VHOG", source="http://bgee.unil.ch/", source="http://medical-dictionary.thefreedictionary.com/Internal+carotid+artery"} property_value: external_definition "One of the major arteries of the head, it is the as the cranial continuation of the aortic arches and the dorsal aorta. It curves ventrally before resuming a dorsal course as it enters the head proper, and it lies ventral to the internal jugular vein. The internal carotid artery gives off palatine, ophthalmic, and cerebral branches by stage NF stage 41.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0011054", ontology="AAO", source="PMID:12606281"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001540 name: peroneal artery namespace: uberon def: "An artery that supplies blood to the lateral compartment of the leg and is typically a branch of posterior tibial artery. [WP,unvetted]." [Wikipedia:Peroneal_artery] subset: human_reference_atlas synonym: "arteria fibularis" EXACT LATIN [FMA:43921, FMA:TA] synonym: "fibular artery" EXACT [] xref: EMAPA:37674 {source="MA:th"} xref: FMA:43921 xref: MA:0002018 xref: NCIT:C33314 xref: SCTID:181359009 xref: UMLS:C0226476 {source="ncithesaurus:Peroneal_Artery"} xref: Wikipedia:Peroneal_artery is_a: UBERON:0001637 ! artery relationship: part_of UBERON:0000026 ! appendage relationship: part_of UBERON:0002101 ! limb relationship: part_of UBERON:0002103 ! hindlimb property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/7/72/Fibular_artery.png xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001597 name: masseter muscle namespace: uberon def: "Pharyngeal arch 1 muscle that participates in oral/pharyngeal behaviors, is innervated by masseteric nerve branches of the trigeminal nerve (CN V), and attaches to mandible and zygomatic arch." [DOI:10.1093/icb/icr067, MFMO:0000075] subset: efo_slim subset: feed_aligned subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "masseter" EXACT [BTO:0001755, FMA:48996, MA:0002343] synonym: "musculus masseter" RELATED LATIN [Wikipedia:Masseter_muscle] xref: BTO:0001755 xref: EFO:0001424 xref: EHDAA2:0001067 xref: EHDAA:10561 xref: EMAPA:25135 xref: FMA:48996 xref: MA:0002343 xref: MESH:D008406 xref: MFMO:0000075 xref: NCIT:C13074 xref: SCTID:181738000 xref: UMLS:C0024876 {source="ncithesaurus:Masseter_Muscle"} xref: VHOG:0000823 xref: Wikipedia:Masseter_muscle is_a: UBERON:0011648 ! jaw muscle relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001015 ! musculature property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/7/78/Illu_head_neck_muscle.jpg xsd:anyURI property_value: homology_notes "The division of the adductor mandibulae in the various lines of tetrapod evolution correlates with divergences in their methods of feeding. (...) As the jaws become stronger and their movements more complex in the line of evolution toward mammals, the adductor complex becomes divided into several distinct muscles (temporalis, masseter, pterygoideus, tensor tympani, tensor veli palati).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000823", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.333-334 and same reference Table 10-4", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 property_value: seeAlso https://github.com/obophenotype/uberon/issues/540 xsd:anyURI property_value: taxon_notes "The division of the adductor mandibulae in the various lines of tetrapod evolution correlates with divergences in their methods of feeding. (...) As the jaws become stronger and their movements more complex in the line of evolution toward mammals, the adductor complex becomes divided into several distinct muscles (temporalis, masseter, pterygoideus, tensor tympani, tensor veli palati)" xsd:string {source="VHOG"} property_value: taxon_notes "The masseter is a jaw muscle of therapsids derived from the m. adductor mandibulae externus, which originates in the adductor chamber (in the temporal fenestra) and inserts on the coronoid process and internal surface of the lower jaw.[Palaeos]" xsd:string [Term] id: UBERON:0001601 name: extra-ocular muscle namespace: uberon alt_id: UBERON:0006229 def: "Skeletal muscle derived from cranial mesoderm and controls eye movements." [GO:0002074, Wikipedia:Extraocular_muscles] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "extra-ocular skeletal muscle" EXACT [] synonym: "extraocular muscle" EXACT [FMA:49033] synonym: "extraocular musculature" EXACT [ZFA:0000511] synonym: "extraocular skeletal muscle" EXACT [MA:0001271] synonym: "extrinsic eye muscle" EXACT [OBOL:automatic] synonym: "extrinsic muscle of eyeball" EXACT [FMA:49033] synonym: "extrinsic ocular muscle" EXACT [EHDAA2:0000482] synonym: "musculi externi bulbi oculi" RELATED LATIN [Wikipedia:Extraocular_muscles] xref: AAO:0010028 xref: BTO:0001579 xref: CALOHA:TS-0305 xref: EFO:0001921 xref: EHDAA2:0000482 xref: EHDAA:5729 xref: EMAPA:18234 xref: FMA:49033 xref: MA:0001271 xref: SCTID:181150000 xref: TAO:0000511 xref: VHOG:0000549 xref: Wikipedia:Extraocular_muscles xref: ZFA:0000511 is_a: UBERON:0014892 ! skeletal muscle organ relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001015 ! musculature property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/6/61/MRI_of_human_eye.jpg xsd:anyURI property_value: external_definition "Any of the six small muscles that control movement of the eyeball within the socket. [TFD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000549", ontology="VHOG", source="http://bgee.unil.ch/", source="http://medical-dictionary.thefreedictionary.com/extraocular+muscle"} property_value: external_definition "Muscles surrounding the eye (bulbus oculi) and having an effect on eye movements.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010028", ontology="AAO", source="AAO:EJS"} property_value: has_relational_adjective "extraocular" xsd:string property_value: homology_notes "The ability to rotate the eyeball is common to all vertebrates with well-developed eyes, regardless of the habitat in which they live, so these (extrinsic ocular) muscles tend to be conservative. They change little during the course of evolution.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000549", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.331", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "todo - resolve discrepancies in which muscles are considered extra-ocular" xsd:string property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "Mammals have 7 extra-ocular muscles, but humans lack the M. retractor bulbi." xsd:string property_value: UBPROP:0000011 "Myofibers in extraocular muscles are derived from mesoderm, whereas muscle connective tissue cells arise from neural crest.[PMID:16638982]" xsd:string property_value: UBPROP:0000012 "BTO and MA consider this part of the eye; we follow them here (inferred from skeletal muscle). Not clear if omission from FMA is deliberate." xsd:string {external_ontology="BTO"} [Term] id: UBERON:0001621 name: coronary artery namespace: uberon def: "An artery that supplies the myocardium." [http://orcid.org/0000-0002-6601-2165, Wikipedia:Coronary_circulation#Coronary_anatomy] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "coronary arterial tree" EXACT [] synonym: "coronary vessel" RELATED [ZFA:0005812] xref: BTO:0000290 xref: CALOHA:TS-0176 xref: EFO:0002551 xref: EMAPA:19160 xref: EV:0100383 xref: FMA:49893 xref: galen:CoronaryArtery xref: MA:0002453 xref: NCIT:C12843 xref: SCTID:181294004 xref: UMLS:C0205042 {source="ncithesaurus:Coronary_Artery"} xref: VHOG:0001557 xref: Wikipedia:Coronary_circulation#Coronary_anatomy xref: ZFA:0005812 is_a: EFO:0001955 ! heart component is_a: UBERON:0001637 ! artery relationship: part_of UBERON:0000915 ! thoracic segment of trunk relationship: part_of UBERON:0000948 ! heart relationship: part_of UBERON:0002100 ! trunk property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/4/46/Gray492.png xsd:anyURI [Term] id: UBERON:0001637 name: artery namespace: uberon def: "An epithelial tube or tree of tibes that transports blood away from the heart[modified from AEO definition]." [AEO:JB] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "arterial subtree" EXACT [] synonym: "arterial system" RELATED [] synonym: "arterial tree organ part" EXACT [] synonym: "arterial vessel" RELATED [] synonym: "arteries" EXACT PLURAL [TAO:0000005] xref: AAO:0010211 xref: AEO:0000208 xref: BTO:0000573 xref: CALOHA:TS-0054 xref: EFO:0000814 xref: EHDAA2:0000143 xref: EHDAA2:0003253 xref: EMAPA:35147 xref: EV:0100026 xref: FMA:50720 xref: GAID:468 xref: galen:Artery xref: MA:0000064 xref: MAT:0000034 xref: MESH:D001158 xref: MIAA:0000034 xref: NCIT:C12372 xref: SCTID:362877004 xref: TAO:0000005 xref: UMLS:C0003842 {source="ncithesaurus:Artery"} xref: VHOG:0001251 xref: Wikipedia:Artery xref: XAO:0000114 xref: ZFA:0000005 is_a: UBERON:0001981 ! blood vessel relationship: UBPROP:0000202 FMA:63812 ! fma_set_term property_value: external_definition "Part of the circulatory system composed of blood vessels which carry oxygenated blood away from the heart to the rest of the body.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010211", ontology="AAO", source="AAO:BJB"} property_value: has_relational_adjective "arterial" xsd:string property_value: homology_notes "The appearance of Chordata and subsequently the vertebrates is accompanied by a rapid structural diversification of this primitive linear heart: looping, unidirectional circulation, an enclosed vasculature, and the conduction system.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001251", ontology="VHOG", source="DOI:10.1196/annals.1341.002 Bishopric NH, Evolution of the heart from bacteria to man. Annals of the New York Academy of Sciences (2006)", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "Note that in FMA an artery is a tree, whereas AEO/JB defines it as a tube; FMA includes a separate class for what it calls the trunk. Classification in this ontology may currently (Jan 2012) represent a mix of both schemes, although we are gradually revising in the direction of the AEO scheme." xsd:string property_value: UBPROP:0000012 "Some arthropods have primitive arterial systems but this term refers to arteries in a true closed circulatory system." xsd:string [Term] id: UBERON:0001638 name: vein namespace: uberon def: "Any of the tubular branching vessels that carry blood from the capillaries toward the heart." [Wikipedia:Vein] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "vascular element" RELATED [EMAPA:th] synonym: "vena" RELATED LATIN [Wikipedia:Vein] synonym: "venae" RELATED PLURAL [VHOG:0001743] synonym: "venous subtree" BROAD [] synonym: "venous tree organ part" EXACT [] synonym: "venous vessel" BROAD [] xref: AAO:0010212 xref: AEO:0000209 xref: BTO:0000234 xref: CALOHA:TS-1108 xref: EFO:0000816 xref: EHDAA2:0003254 xref: EMAPA:35906 xref: EV:0100031 xref: FMA:50723 xref: GAID:492 xref: galen:Vein xref: MA:0000067 xref: MAT:0000037 xref: MESH:D014680 xref: MIAA:0000037 xref: NCIT:C12814 xref: SCTID:181367001 xref: TAO:0000082 xref: UMLS:C0042449 {source="ncithesaurus:Vein"} xref: VHOG:0001743 xref: Wikipedia:Vein xref: XAO:0000115 xref: ZFA:0000082 is_a: UBERON:0001981 ! blood vessel relationship: UBPROP:0000202 FMA:63814 ! fma_set_term property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/c/c2/Venous_system_en.svg xsd:anyURI property_value: external_definition "Part of the circulatory system composed of blood vessels which carry blood from other organs, tissues, and cells to the heart.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010212", ontology="AAO", source="AAO:BJB"} property_value: has_relational_adjective "venous" xsd:string property_value: homology_notes "The appearance of Chordata and subsequently the vertebrates is accompanied by a rapid structural diversification of this primitive linear heart: looping, unidirectional circulation, an enclosed vasculature, and the conduction system.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001743", ontology="VHOG", source="DOI:10.1196/annals.1341.002 Bishopric NH, Evolution of the heart from bacteria to man. Annals of the New York Academy of Sciences (2006)", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "TODO - check with MA - vein vs venous blood vessel" xsd:string [Term] id: UBERON:0001639 name: hepatic portal vein namespace: uberon def: "A portal vein that transports nutrients from the digestive tract to the liver[Kardong]." [http://sourceforge.net/tracker/?func=detail&aid=3091300&group_id=76834&atid=1205376, ISBN:0073040584, Wikipedia:Hepatic_portal_vein] subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "hepatic portal tree" EXACT [] synonym: "HPV" RELATED [] synonym: "liver portal vein" EXACT [OBOL:automatic] synonym: "portal vein" RELATED INCONSISTENT [] synonym: "portal vein of liver" EXACT [OBOL:automatic] synonym: "primary hepatic portal vein" RELATED [ZFA:0005090] synonym: "primary hepatic portal veins" RELATED [] synonym: "vena portae hepatis" RELATED LATIN [Wikipedia:Hepatic_portal_vein] xref: AAO:0010214 xref: FMA:50735 xref: MA:0002132 xref: TAO:0005090 xref: VHOG:0000642 xref: Wikipedia:Hepatic_portal_vein xref: ZFA:0005090 is_a: UBERON:0001638 ! vein relationship: part_of UBERON:0002107 ! liver relationship: part_of UBERON:0004647 ! liver lobule property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/3/33/Gray591.png xsd:anyURI property_value: homology_notes "Adults of all vertebrates lose the vitelline veins and establish a single large hepatic portal vein (...) by the selective retention of parts of the left and right subintestinals and of several anastomoses that occur between them within and just posterior to the liver.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000642", ontology="VHOG", source="ISBN:978-0471090588 Hildebrand M, Analysis of vertebrate structure (1983) p.265", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "In humans A vein in the abdominal cavity that drains blood from the gastrointestinal tract and spleen. It is usually formed by the confluence of the superior mesenteric and splenic veins, and also receives blood from the inferior mesenteric, gastric, and cystic veins. The hepatic portal vein is a major component of the hepatic portal system, one of the main portal venous systems in the body. Conditions involving the hepatic portal vein cause considerable illness and death. An important example of such a condition is elevated blood pressure in the hepatic portal vein. This condition, called portal hypertension, is a major complication of cirrhosis worldwide. [WP,unvetted]" xsd:string [Term] id: UBERON:0001645 name: trigeminal nerve namespace: uberon def: "Cranial nerve that has three branches - the ophthalmic (supplying the skin of the nose and upper jaw), the maxillary and the mandibular (supplying the lower jaw)." [ISBN:0471209627, Wikipedia:Trigeminal_nerve] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "5n" BROAD ABBREVIATION [BIRNLEX:869, NIFSTD:NeuroNames_abbrevSource] synonym: "CN-V" RELATED [] synonym: "cranial nerve V" RELATED [] synonym: "fifth cranial nerve" EXACT [] synonym: "nerve V" RELATED [NeuroNames:549] synonym: "nervus trigeminus" EXACT LATIN [Wikipedia:Trigeminal_nerve] synonym: "nervus trigeminus" RELATED [BTO:0001072] synonym: "nervus trigeminus [v]" EXACT LATIN [FMA:50866, FMA:TA] synonym: "trigeminal nerve [V]" EXACT [] synonym: "trigeminal nerve tree" EXACT [] synonym: "trigeminal V" EXACT [EHDAA2:0002084] synonym: "trigeminal v nerve" EXACT [] synonym: "trigeminus" RELATED [BTO:0001072] xref: AAO:0010470 xref: BAMS:5n xref: BAMS:nV xref: BAMS:Vn xref: BIRNLEX:869 xref: BM:VN xref: BTO:0001072 xref: EFO:0001402 xref: EHDAA2:0002084 xref: EHDAA:3738 xref: EMAPA:17576 xref: FMA:50866 xref: GAID:726 xref: HBA:9322 xref: MA:0001100 xref: MBA:901 xref: MESH:D014276 xref: MFMO:0000093 xref: NCIT:C12806 xref: neuronames:549 {source="BIRNLEX:869"} xref: SCTID:362459002 xref: TAO:0000697 xref: UMLS:C0040996 {source="ncithesaurus:Trigeminal_Nerve", source="BIRNLEX:869"} xref: VHOG:0000704 xref: Wikipedia:Trigeminal_nerve xref: XAO:0003092 xref: ZFA:0000697 is_a: UBERON:0001021 ! nerve relationship: part_of UBERON:0000033 ! head relationship: part_of UBERON:0001016 ! nervous system property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/9/99/Gray778_Trigeminal.png xsd:anyURI property_value: external_definition "Nerve consists of motor and sensory components. Ganglion cells of the sensory component form the proximal part of the trigeminal (Gasserian) ganglion. From the ganglion 3 major rami innervate jaws, snout, and buccal roof.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010470", ontology="AAO", source="AAO:EJS"} property_value: homology_notes "We conclude this section by listing some of the many synapomorphies of craniates, including (...) (5) cranial nerves (...) (reference 1); Phylogenetically, the cranial nerves are thought to have evolved from dorsal and ventral nerves of a few anterior spinal nerves that became incorporated into the braincase. Dorsal and ventral nerves fuse in the trunk but not in the head, and they produce two series: dorsal cranial nerves (V, VII, IX, and X) and ventral cranial nerves (III, IV, VI, and XIII) (reference 2).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000704", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.43, ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.625", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "the ophthalmic usually usually merges with the other two. In some vertebrates, the ophthalmic emerges from the brain separately[Kardong] The trigeminal nerve has 3 branches in mammals - similar branches are present in nonmammalian vertebrates, but in some a separate profundus nerve that corresponds to opthalmic branch in mammls" xsd:string {source="ISBN:0471888893"} [Term] id: UBERON:0001673 name: central retinal vein namespace: uberon def: "The central retinal vein (retinal vein) is a short vein that runs through the optic nerve and drains blood from the capillaries of the retina into the larger veins outside the eye. The anatomy of the veins of the orbit of the eye varies between individuals, and in some the central retinal vein drains into the superior ophthalmic vein, and in some it drains directly into the cavernous sinus. [WP,unvetted]." [Wikipedia:Central_retinal_vein] subset: efo_slim subset: human_reference_atlas subset: uberon_slim synonym: "retinal vein" EXACT [MA:0002213] synonym: "vena centralis retinae" RELATED LATIN [Wikipedia:Central_retinal_vein] xref: EFO:0004271 xref: EMAPA:37185 {source="MA:th"} xref: FMA:51799 xref: GAID:524 xref: MA:0002213 xref: MESH:D012169 xref: NCIT:C53063 xref: SCTID:280913005 xref: UMLS:C0035327 {source="ncithesaurus:Retinal_Vein"} xref: Wikipedia:Central_retinal_vein is_a: UBERON:0001638 ! vein relationship: part_of UBERON:0000033 ! head property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001675 name: trigeminal ganglion namespace: uberon def: "The cranial ganglion that is associated with and extends fibers into the trigeminal nerve." [http://orcid.org/0000-0002-6601-2165, http://www.ncbi.nlm.nih.gov/books/NBK53171, https://github.com/obophenotype/uberon/issues/693] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "5th ganglion" EXACT [ZFA:0000295] synonym: "fifth ganglion" EXACT [ZFA:0000295] synonym: "fused trigeminal ganglion" NARROW SENSU [NCBITaxon:32524] synonym: "ganglion of trigeminal complex" EXACT [http://orcid.org/0000-0002-6601-2165] synonym: "ganglion of trigeminal nerve" RELATED [BTO:0001231] synonym: "ganglion semilunare" RELATED LATIN [Wikipedia:Trigeminal_ganglion] synonym: "ganglion trigeminale" RELATED LATIN [BTO:0001231, Wikipedia:Trigeminal_ganglion] synonym: "Gasser's ganglion" RELATED [BTO:0001231] synonym: "Gasserian ganglia" RELATED PLURAL [Wikipedia:Trigeminal_ganglion] synonym: "Gasserian ganglion" EXACT [Wikipedia:Trigeminal_ganglion] synonym: "gV" RELATED [] synonym: "semilunar ganglion" EXACT [ISBN:0471888893] synonym: "trigeminal ganglia" RELATED PLURAL [] synonym: "trigeminal V ganglion" EXACT [MA:0001080] synonym: "trigeminus ganglion" RELATED [] xref: AAO:0011107 xref: BAMS:5Gn xref: BAMS:GV xref: BTO:0001231 xref: EFO:0000903 xref: EHDAA2:0002085 xref: EHDAA:2113 xref: EMAPA:16797 xref: FMA:52618 xref: GAID:725 xref: MA:0001080 xref: MAT:0000511 xref: MESH:D012668 xref: NCIT:C62642 xref: neuronames:1402 xref: SCTID:244449009 xref: TAO:0000295 xref: UMLS:C0040995 {source="ncithesaurus:Trigeminal_Ganglion"} xref: VHOG:0000694 xref: Wikipedia:Trigeminal_ganglion xref: XAO:0000427 xref: XAO:0000428 xref: ZFA:0000295 is_a: UBERON:0001714 ! cranial ganglion property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/6/69/Gray776.png xsd:anyURI property_value: external_definition "A prominent collection of touch-sensory neurons of the trigeminal or fifth cranial nerve, positioned beside the brain between the eye and the ear. Kimmel et al, 1995.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000295", ontology="TAO", source="ZFIN:curator"} property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/ANiknejad property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/cmungall property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/mellybelly property_value: IAO:0000116 "consider renaming this 'trigeminal ganglion complex'. The complex may be fused (amniotes) partially fused (xenopus) or separate (sharks)" xsd:string property_value: taxon_notes "In Xenopus, the profundal and the trigeminal ganglia are separate distally but fused at their proximal end as they condense around NF stage 24." xsd:string {source="PMID:21452441", source="XAO:0004093"} [Term] id: UBERON:0001684 name: mandible namespace: uberon def: "A dentary bone that is the only bone in one of the lateral halves of the lower jaw skeleton." [Wikipedia:Human_mandible, Wikipedia:Mandible] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "inferior maxillary bone" EXACT [] synonym: "lower jaw" BROAD SENSU [] synonym: "lower jaw bone" BROAD SENSU [] synonym: "lower mandibula" NARROW SENSU [Wikipedia:Mandible] synonym: "mammaliam mandible" EXACT [] synonym: "mandibula" RELATED LATIN [BTO:0001748, Wikipedia:Human_mandible] synonym: "mandibular series" RELATED [ZFA:0001273] synonym: "mandibulla" EXACT [] xref: BTO:0001748 xref: CALOHA:TS-2225 xref: EFO:0001965 xref: EHDAA2:0001059 xref: EHDAA:8007 xref: EMAPA:18290 xref: FMA:52748 xref: GAID:68 xref: galen:Mandible xref: MA:0001487 xref: MESH:D008334 xref: NCIT:C12290 xref: SCTID:181812008 xref: UMLS:C0024687 {source="ncithesaurus:Mandible"} xref: Wikipedia:Human_mandible is_a: UBERON:0004742 ! dentary property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/6/64/Gray176.png xsd:anyURI property_value: has_relational_adjective "mandibular" xsd:string property_value: IAO:0000116 "consider merging with dentary - for now we make it a mammal-specific subclass." xsd:string property_value: RO:0002175 NCBITaxon:9606 property_value: UBPROP:0000012 "Note in ZFA 'mandible' is a syn for the ventral mandibular arch, which is a portion of the 1st pharyngeal arch; however the term 'mandibular symphysis' refers to the dentary" xsd:string {external_ontology="ZFA"} property_value: UBPROP:0000013 "'mandible' also refers to either the upper OR lower part of the beak in birds" xsd:string [Term] id: UBERON:0001690 name: ear namespace: uberon def: "Sense organ in vertebrates that is specialized for the detection of sound, and the maintenance of balance. Includes the outer ear and middle ear, which collect and transmit sound waves; and the inner ear, which contains the organs of balance and (except in fish) hearing. Also includes the pinna, the visible part of the outer ear, present in some mammals." [GO:0042471, Wikipedia:Ear] subset: efo_slim subset: organ_slim subset: pheno_slim subset: uberon_slim synonym: "auditory apparatus" RELATED [] synonym: "auris" RELATED [BTO:0000368] xref: AAO:0011014 xref: BIRNLEX:1062 xref: BTO:0000368 xref: CALOHA:TS-1165 xref: EFO:0000826 xref: EHDAA2:0000423 xref: EHDAA:502 xref: EMAPA:16193 xref: EV:0100353 xref: FMA:52780 xref: GAID:62 xref: galen:Ear xref: MA:0000236 xref: MAT:0000138 xref: MESH:D004423 xref: MIAA:0000138 xref: NCIT:C12394 xref: SCTID:1910005 xref: UMLS:C0013443 {source="ncithesaurus:Ear", source="BIRNLEX:1062"} xref: UMLS:C0521421 {source="BIRNLEX:1062"} xref: VHOG:0000330 xref: Wikipedia:Ear xref: XAO:0000189 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000033 ! head relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001032 ! sensory system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/b/b8/Ear.jpg xsd:anyURI property_value: external_definition "The organ of hearing and of equilibrium. [TFD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000330", ontology="VHOG", source="http://bgee.unil.ch/", source="http://medical-dictionary.thefreedictionary.com/ear"} property_value: has_relational_adjective "auricular" xsd:string property_value: homology_notes "Both vertebrate and invertebrate auditory organs are thought to have evolved from primitive mechanosensors, but the nature of the ancestral structure and the evolutionary trajectories followed in distinct animal lineages remain unknown. In particular, we do not know how many types of mechanosensor existed in the protostome-deuterostome ancestor from which insects and vertebrates evolved or whether the PDA had an auditory organ.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000330", ontology="VHOG", source="DOI:10.1002/dvdy.20207 Boekhoff-Falk G, Hearing in Drosophila: Development of Johnston's organ and emerging parallels to vertebrate ear development. Developmental Dynamics (2005)", source="http://bgee.unil.ch/"} [Term] id: UBERON:0001691 name: external ear namespace: uberon def: "Part of the ear external to the tympanum (eardrum). It typically consists of a tube (the external auditory meatus) that directs sound waves on to the tympanum, and may also include the external pinna, which extends beyond the skull[GO]." [GO:0042473, Wikipedia:External_ear] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "auricular region" BROAD [] synonym: "auricular region of head" EXACT [] synonym: "auris externa" RELATED [BTO:0002100] synonym: "outer ear" EXACT [MA:0000258] xref: AAO:0011037 xref: BIRNLEX:1705 xref: BTO:0002100 xref: EFO:0004221 xref: EHDAA2:0000462 xref: EHDAA:3786 xref: EMAPA:16991 xref: EV:0100354 xref: FMA:52781 xref: GAID:104 xref: MA:0000258 xref: MAT:0000147 xref: MESH:D004431 xref: MIAA:0000147 xref: NCIT:C12292 xref: SCTID:420893000 xref: UMLS:C0013453 {source="ncithesaurus:External_Ear", source="BIRNLEX:1705"} xref: UMLS:C1269548 {source="BIRNLEX:1705"} xref: VHOG:0000311 xref: Wikipedia:External_ear xref: XAO:0000190 is_a: UBERON:0000061 ! anatomical structure disjoint_from: UBERON:0006618 ! atrium auricular region relationship: never_in_taxon NCBITaxon:9709 {source="Wikipedia"} relationship: part_of UBERON:0000033 ! head relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0001690 ! ear property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/2/29/Gray907.png xsd:anyURI property_value: external_definition "The external part of the organ, which consists of an outer portion (external auditory meatus) which leads to the tympanum. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000311", ontology="VHOG", source="http://bgee.unil.ch/"} property_value: homology_notes "Some species, like Amolops tormotus (Feng et al. 2006), have a cavity in front of the tympanic membrane which is considered to be an ear canal and thus an outer ear. (...) The ancestral lineage of amphibians separated from the mammalian lineage, approximately 350 million years ago, in the paleozoic era. Many of the important developments in the auditory systems emerged after the ancestral paths separated (Manley and Clack 2003). This implies that shared features, like the tympanic middle ear, developed independently in different vertebrate lineages.[uncertain][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000311", ontology="VHOG", source="DOI:10.1007/s00359-008-0327-1 Schoffelen RLM, Segenhout JM, Van Dijk P, Mechanics of the exceptional anuran ear. Journal of Comparative Physiology A (2008)", source="http://bgee.unil.ch/"} property_value: UBPROP:0000012 "in XAO this includes and is only the tympanum" xsd:string {external_ontology="XAO"} [Term] id: UBERON:0001700 name: geniculate ganglion namespace: uberon def: "The group of sensory neuron cell bodies associated with the facial nerve (seventh cranial nerve)." [ISBN:0-683-40008-8, MP:0001082] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "facial ganglion" RELATED [ZFA:0001291] synonym: "facial VII ganglion" EXACT [MA:0001076] synonym: "ganglion genicularum" EXACT [FMA:53414] synonym: "ganglion geniculi" RELATED [Wikipedia:Geniculate_ganglion] synonym: "ganglion geniculi nervi facialis" RELATED LATIN [Wikipedia:Geniculate_ganglion] synonym: "genicular ganglion" EXACT [FMA:53414, Wikipedia:Geniculate_ganglion] synonym: "geniculate" BROAD [Wikipedia:Geniculate_ganglion] synonym: "geniculate ganglion" RELATED [MA:0001076] synonym: "gVII" EXACT [ZFA:0001291] synonym: "internal genu" RELATED [Wikipedia:Geniculate_ganglion] xref: BAMS:GgVII xref: EFO:0003669 xref: EHDAA2:0000491 xref: EHDAA2:0004623 xref: EHDAA:5567 xref: EHDAA:6644 xref: EMAPA:17569 xref: FMA:53414 xref: GAID:718 xref: MA:0001076 xref: MESH:D005830 xref: NCIT:C12721 xref: neuronames:1535 xref: SCTID:279076005 xref: TAO:0001291 xref: UMLS:C0017406 {source="ncithesaurus:Geniculate_Ganglion"} xref: VHOG:0000707 xref: Wikipedia:Geniculate_ganglion xref: ZFA:0001291 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001714 ! cranial ganglion property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/7/7d/Gray789.png xsd:anyURI property_value: homology_notes "These (the epibranchial placodes) are focal thickenings of the embryonic ectoderm that form immediately dorsal and caudal of the clefts between the pharyngeal arches in all vertebrates, and they produce the neuroblasts which migrate and condense to form the distal cranial ganglia: the geniculate, petrosal and nodose ganglia. (...) The one substantial difference between the vertebrate pharyngeal arches and those of the protochordates is the presence of the epibranchial placodes but the evolution of these structures was undoubtedly driven by the endoderm.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000707", ontology="VHOG", source="DOI:10.1046/j.1469-7580.2001.19910133.x Graham A. The development and evolution of the pharyngeal arches. J Anat (2001)", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "resolve facial VII vs geniculate (see EHDAA2)" xsd:string [Term] id: UBERON:0001705 name: nail namespace: uberon def: "A horn-like keratin structure covering the dorsal aspect of the terminal phalanges of fingers and toes[WP]." [https://github.com/obophenotype/uberon/issues/120, Wikipedia:Nail_(anatomy)] comment: The nails of humans and the claws are moth are highly similar. Both species have a proximal nail fold, cuticle, nail matrix, nail bed, nail plate, and hyponychium. Distinguishing features are the shape of the nail and the presence of an extended hyponychium in the mouse [PMC3579226] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "claw" NARROW SENSU [Wikipedia:Claw] synonym: "nail/claw" EXACT [http://orcid.org/0000-0002-6601-2165] synonym: "talon" RELATED [] xref: BTO:0001719 xref: CALOHA:TS-2034 xref: EFO:0000956 xref: EMAPA:35580 xref: EV:0100159 xref: FMA:54326 xref: GAID:1320 xref: galen:Nail xref: MA:0002703 xref: MAT:0000158 xref: MESH:D009262 xref: MIAA:0000158 xref: NCIT:C33156 xref: SCTID:72651009 xref: UMLS:C0027342 {source="ncithesaurus:Nail"} xref: VHOG:0001361 xref: Wikipedia:Nail_(anatomy) is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0001003 ! skin epidermis relationship: part_of UBERON:0002416 ! integumental system property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/cmungall property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/mellybelly property_value: IAO:0000232 "Use this class for both the nails of primates and the homologous claws of mammals such as mouse." xsd:string property_value: taxon_notes "A primate's nail consists of the unguis alone; the subunguis has disappeared" xsd:string [Term] id: UBERON:0001706 name: nasal septum namespace: uberon def: "The nasal septum separates the left and right airways in the nose, dividing the two nostrils. It is depressed by the Depressor septi nasi muscle. [WP,unvetted]." [Wikipedia:Nasal_septum] subset: pheno_slim subset: uberon_slim synonym: "septal cartilage" RELATED [Wikipedia:Nasal_septum] synonym: "septum mobile nasi" RELATED [Wikipedia:Nasal_septum] synonym: "septum nasi" RELATED LATIN [Wikipedia:Nasal_septum] synonym: "septum of the nose" RELATED [Wikipedia:Nasal_septum] xref: AAO:0000559 xref: AAO:0010135 xref: EHDAA2:0001234 xref: EHDAA2:0004104 xref: EHDAA:6809 xref: EMAPA:17608 xref: FMA:54375 xref: GAID:115 xref: MA:0000285 xref: MESH:D009300 xref: NCIT:C33160 xref: SCTID:181197004 xref: UMLS:C0027432 {source="ncithesaurus:Nasal_Septum"} xref: VHOG:0000017 xref: Wikipedia:Nasal_septum is_a: EFO:0000792 ! craniofacial tissue relationship: part_of UBERON:0000004 ! nose property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/6/65/Gray854.png xsd:anyURI property_value: external_definition "A median dividing wall, sagittally directed, which divides the nasal cavity into the right and the left nasal fossae. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000017", ontology="VHOG", source="http://bgee.unil.ch/"} property_value: external_definition "Medial vertical wall between nasal capsules.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010135", ontology="AAO", source="AAO:EJS"} property_value: external_definition "Medial, vertical plate that separates the nasal capsules.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000559", ontology="AAO", source="AAO:LAP"} property_value: homology_notes "Whatever the common ancestor of the lamprey and gnathostomes may have looked like, it most likely possessed a neural-crest-derived premandibular ectomesenchyme closely associated with the NHP. Invention of the jaw subsequently required a space for the nasal septum and maxillary process to develop, which might have been provided by subdivision of the NHP into the nasal placode and the hypophysis (diplorhiny, the state of bilaterally separated nasal openings, would also have been a prerequisite for this).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000017", ontology="VHOG", source="DOI:10.1098/rstb.2001.0976 Kuratani S, Nobusada Y, Horigome N, Shigetani Y, Embryology of the lamprey and evolution of the vertebrate jaw: insights from molecular and developmental perspectives. Philosophical transactions of the Royal Society of London (2001)", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "We follow AAO in making this part of the nasal skeleton" xsd:string [Term] id: UBERON:0001707 name: nasal cavity namespace: uberon def: "An anatomical cavity that is part of the olfactory apparatus. This includes the space bounded anteriorly by the nares and posteriorly by the choanae, when these structures are present." [http://orcid.org/0000-0002-6601-2165] subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "cavitas nasalis" RELATED [BTO:0002096] synonym: "cavitas nasi" RELATED LATIN [BTO:0002096, Wikipedia:Nasal_cavity] synonym: "cavity of nose" EXACT [] synonym: "cavity of olfactory apparatus" EXACT [http://orcid.org/0000-0002-6601-2165] synonym: "cavum nasi" RELATED LATIN [Wikipedia:Nasal_cavity] synonym: "nasal canal" EXACT [ZFA:0000130] synonym: "nasal conduit space" EXACT [http://orcid.org/0000-0002-6601-2165] synonym: "nasal fossa" EXACT [Wikipedia:Nasal_cavity] synonym: "nasal pit" RELATED [] synonym: "olfactory cavity" RELATED [] synonym: "olfactory chamber" RELATED [http://orcid.org/0000-0002-6601-2165] synonym: "olfactory chamber cavity" EXACT [http://orcid.org/0000-0002-6601-2165] synonym: "olfactory pit" RELATED INCONSISTENT [ZFA:0000130] xref: AAO:0000314 xref: BTO:0002096 xref: EHDAA2:0001226 xref: EHDAA:6801 xref: EMAPA:17604 xref: FMA:54378 xref: GAID:350 xref: MA:0000284 xref: MESH:D009296 xref: NCIT:C12424 xref: SCTID:263481003 xref: TAO:0000130 xref: UMLS:C0027423 {source="ncithesaurus:Nasal_Cavity"} xref: VHOG:0000271 xref: Wikipedia:Nasal_cavity xref: ZFA:0000130 is_a: UBERON:0001062 ! anatomical entity property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/d/d4/Illu01_head_neck.jpg xsd:anyURI property_value: external_definition "a large air filled space above and behind the nose in the middle of the face[WP][Wikipedia:Nasal_cavity]." xsd:string {source="Wikipedia:Nasal_cavity"} property_value: external_definition "Saclike space internal to the nasal capsule lined by respiratory and sensory epithelium and glandular tissue.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000314", ontology="AAO", source="AAO:LAP"} property_value: homology_notes "Despite significant modification to the nasal cavity within Archosauria and its extreme hypertrophy and supraorbital development in Lambeosaurinae, the neural olfactory system and the olfactory region of the nasal cavity proper retain their plesiomorphic positions and associations, suggesting that this system is highly conserved in vertebrate evolution.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000271", ontology="VHOG", source="DOI:10.1666/0094-8373(2006)032[0109:NCHACC]2.0.CO;2 Evans DC, Nasal cavity homologies and cranial crest function in lambeosaurine dinosaurs. Paleobiology (2006)", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "define the boundaries of this cavity for a variety of species and check that parthood relations are not too strong." xsd:string property_value: taxon_notes "in humans, the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures" xsd:string {source="HP"} [Term] id: UBERON:0001711 name: eyelid namespace: uberon def: "A fold of skin that covers and protects part of the eyeball. Examples: upper eyelid, lower eyelid, nictitating membrane." [http://orcid.org/0000-0002-6601-2165] subset: pheno_slim subset: uberon_slim synonym: "blephara" RELATED PLURAL [] synonym: "blepharon" EXACT [] synonym: "eye lid" EXACT [] synonym: "palpebra" EXACT [] synonym: "palpebrae" RELATED PLURAL [] xref: BTO:0002241 xref: EHDAA2:0000487 xref: EHDAA:9037 xref: EMAPA:17829 xref: EV:0100338 xref: FMA:54437 xref: GAID:72 xref: MA:0000268 xref: MESH:D005143 xref: NCIT:C12713 xref: SCTID:265782007 xref: UMLS:C0015426 {source="ncithesaurus:Eyelid"} xref: VHOG:0000016 xref: Wikipedia:Eyelid is_a: UBERON:0000061 ! anatomical structure relationship: UBPROP:0000202 FMA:75178 ! fma_set_term property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/8/84/Eye_makeup.jpg xsd:anyURI property_value: has_relational_adjective "blepharic" xsd:string property_value: has_relational_adjective "palpebral" xsd:string property_value: taxon_notes "In humans the upper and lower eyelid consists of the following layers, starting anteriorly: (1) skin, (2) a layer of subcutaneous connective tissue, (3) a layer of striated muscle fibres of the orbicularis muscle, (4) a layer of submuscular connective tissue, (5) a fibrous layer, including the tarsal plates, (6) a layer of smooth muscle, (7) the palpebral conjunctiva." xsd:string property_value: UBPROP:0000012 "Consider adding 'eye surface', like MA" xsd:string {external_ontology="MA"} property_value: UBPROP:0000012 "FMA divides this into skin, fascia, conjunctiva" xsd:string {external_ontology="FMA"} [Term] id: UBERON:0001714 name: cranial ganglion namespace: uberon alt_id: UBERON:0003213 alt_id: UBERON:0026601 def: "The groups of nerve cell bodies associated with the twelve cranial nerves." [ISBN:0-683-40008-8, MGI:csmith, MP:0001081, PMID:9362461] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "cranial ganglia" RELATED [] synonym: "cranial ganglion" EXACT [] synonym: "cranial ganglion part of peripheral nervous system" EXACT [BIRNLEX:2597] synonym: "cranial ganglion/nerve" EXACT [] synonym: "cranial nerve ganglion" EXACT [] synonym: "cranial neural ganglion" EXACT [] synonym: "cranial neural tree organ ganglion" EXACT [OBOL:automatic] synonym: "ganglion of cranial nerve" EXACT [FMA:54502] synonym: "ganglion of cranial neural tree organ" EXACT [OBOL:automatic] synonym: "head ganglion" RELATED [] synonym: "presumptive cranial ganglia" RELATED [ZFA:0000013] xref: BIRNLEX:2597 xref: BTO:0000106 xref: EFO:0000902 xref: EMAPA:16659 xref: FMA:54502 xref: MA:0000213 xref: MA:0000214 xref: MAT:0000200 xref: MIAA:0000200 xref: SCTID:244448001 xref: TAO:0000013 xref: VHOG:0000076 xref: Wikipedia:Cranial_nerve_ganglion xref: XAO:0000027 xref: ZFA:0000013 is_a: UBERON:0000045 ! ganglion relationship: part_of UBERON:0000033 ! head property_value: external_definition "Ganglion which is located in the head.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000013", ontology="TAO", source="ZFIN:curator"} [Term] id: UBERON:0001715 name: oculomotor nuclear complex namespace: uberon def: "Nuclear complex containing subnuclei that give rise to the axons of the occulomotor nerve, both motor and parasympathetic fibers, situated at the midline at the level of the superior colliculus in the midbrain tegmentum (Brodal, Neurological Anatomy, 3rd ed., 1981, pg 533-534)." [BIRNLEX:1240] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "motor nucleus III" RELATED [] synonym: "nIII" RELATED [] synonym: "nucleus nervi oculomotorii" EXACT LATIN [FMA:54510, FMA:TA] synonym: "nucleus oculomotorius" RELATED LATIN [NeuroNames:492] synonym: "nucleus of oculomotor nerve" EXACT [FMA:54510] synonym: "nucleus of oculomotor nuclear complex" EXACT [http://orcid.org/0000-0002-6601-2165] synonym: "nucleus of third cranial nerve" EXACT [FMA:54510] synonym: "oculomotor III nuclear complex" EXACT [] synonym: "oculomotor III nucleus" EXACT [MA:0001073] synonym: "oculomotor motornucleus" RELATED [XAO:0004389] synonym: "oculomotor nucleus" EXACT [FMA:54510] synonym: "OM" EXACT ABBREVIATION [XAO:0004389] synonym: "third cranial nerve nucleus" EXACT [FMA:54510] xref: BAMS:3 xref: BAMS:III xref: BIRNLEX:1240 xref: BM:MB-III xref: DHBA:12198 xref: EFO:0002468 xref: EHDAA2:0004211 xref: EMAPA:35605 xref: EV:0100250 xref: FMA:54510 xref: HBA:9030 xref: MA:0001073 xref: MBA:35 xref: MESH:D065838 xref: NCIT:C12897 xref: neuronames:492 {source="BIRNLEX:1240"} xref: SCTID:362457000 xref: TAO:0000553 xref: UMLS:C0228686 {source="ncithesaurus:Oculomotor_Nucleus", source="BIRNLEX:1240"} xref: VHOG:0001389 xref: Wikipedia:Nucleus_of_oculomotor_nerve xref: XAO:0004389 xref: ZFA:0000553 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001017 ! central nervous system relationship: part_of UBERON:0001891 ! midbrain relationship: UBPROP:0000202 FMA:84019 ! fma_set_term property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/d/da/Cn3nucleus.png xsd:anyURI property_value: external_definition "The nucleus of the oculomotor nerve (cranial nerve III)[XAO:0004389]." xsd:string {source="XAO:0004389"} property_value: RO:0002171 UBERON:0001944 {source="ABA"} property_value: RO:0002171 UBERON:0001947 {source="ABA"} property_value: RO:0002171 UBERON:0001966 {source="ABA"} property_value: RO:0002171 UBERON:0002141 {source="ABA"} property_value: RO:0002171 UBERON:0002438 {source="ABA"} property_value: RO:0002171 UBERON:0002691 {source="ABA"} property_value: RO:0002171 UBERON:0002696 {source="ABA"} property_value: RO:0002171 UBERON:0002722 {source="ABA"} property_value: RO:0002171 UBERON:0002995 {source="ABA"} property_value: RO:0002171 UBERON:0003040 {source="ABA"} [Term] id: UBERON:0001723 name: tongue namespace: uberon def: "A muscular organ in the floor of the mouth." [FEED:rd, https://github.com/obophenotype/uberon/issues/256] subset: efo_slim subset: organ_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "glossus" RELATED [Wikipedia:Tongue] xref: AAO:0010360 xref: BTO:0001385 xref: CALOHA:TS-1050 xref: EFO:0000833 xref: EHDAA2:0002062 xref: EHDAA:9144 xref: EMAPA:17185 xref: EV:0100058 xref: FMA:54640 xref: GAID:816 xref: MA:0000347 xref: MAT:0000040 xref: MESH:D014059 xref: MIAA:0000040 xref: NCIT:C12422 xref: SCTID:181226008 xref: TAO:0005333 xref: UMLS:C0040408 {source="ncithesaurus:Tongue"} xref: VHOG:0000419 xref: Wikipedia:Tongue xref: XAO:0000446 xref: ZFA:0005333 is_a: EFO:0000792 ! craniofacial tissue relationship: part_of UBERON:0000165 ! mouth relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001007 ! digestive system relationship: part_of UBERON:0001032 ! sensory system relationship: part_of UBERON:0001033 ! gustatory system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/a/a6/Tongue.agr.jpg xsd:anyURI property_value: external_definition "A mobile mass of muscular tissue that is covered with mucous membrane, occupies much of the cavity of the mouth, forms part of its floor, bears the organ of taste, and assists in chewing and swallowing. [TFD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000419", ontology="VHOG", source="http://bgee.unil.ch/", source="http://medical-dictionary.thefreedictionary.com/tongue"} property_value: external_definition "Muscular organ in the floor of the mouth.[FEED]" xsd:string {date_retrieved="2012-07-02", ontology="FEED", url="http://www.feedexp.org"} property_value: external_definition "The tongue is the movable, muscular organ on the floor of the mouth of most vertebrates, in many other mammals is the principal organ of taste, aids in the prehension of food, in swallowing, and in modifying the voice as in speech[GO][GO:0043586]." xsd:string {source="GO:0043586"} property_value: has_relational_adjective "glossal" xsd:string property_value: has_relational_adjective "lingual" xsd:string property_value: homology_notes "Most adult amphibians have a tongue, as do all known reptiles, birds and mammals. Thus it is likely that the tongue appeared with the establishment of tetrapods and this structure seems to be related, to some extant, to the terrestrial lifestyle.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000419", ontology="VHOG", source="DOI:10.1046/j.1469-7580.2002.00073.x Iwasaki S, Evolution of the structure and function of the vertebrate tongue. J Anat (2002)", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "in MA the tongue is part of the oral region, which in uberon is treated as the oral opening. consider revising oral opening - oral region equivalence." xsd:string property_value: taxon_notes "Many species of fish have small folds at the base of their mouths that might informally be called tongues, but they lack a muscular structure like the true tongues found in most tetrapods" xsd:string property_value: UBPROP:0000011 "The tongue has contributions from all pharyngeal arches which changes with time. The tongue initially begins as swelling rostral to foramen cecum, the median tongue bud.. tongue muscles derive from the somites - http://php.med.unsw.edu.au/embryology/index.php?title=Tongue_Development#Pharyngeal_Arch_Contributions" xsd:string [Term] id: UBERON:0001728 name: nasopharynx namespace: uberon def: "The section of the pharynx that lies above the soft palate." [MGI:cwg, MP:0002251] subset: pheno_slim subset: uberon_slim synonym: "epipharynx" RELATED [Wikipedia:Pharynx] synonym: "nasal part of pharynx" EXACT [] synonym: "Nasenrachenraum" RELATED [BTO:0000662] synonym: "pars nasalis pharyngis" RELATED LATIN [Wikipedia:Nasopharynx] synonym: "rhinopharynx" EXACT [] xref: BTO:0000662 xref: CALOHA:TS-0663 xref: EHDAA2:0001239 xref: EHDAA:7086 xref: EMAPA:17670 xref: EV:0100066 xref: FMA:54878 xref: GAID:339 xref: MA:0000443 xref: MAT:0000447 xref: MESH:D009305 xref: NCIT:C12423 xref: SCTID:181200003 xref: UMLS:C0027442 {source="ncithesaurus:Nasopharynx"} xref: VHOG:0000375 xref: Wikipedia:Nasopharynx is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000065 ! respiratory tract relationship: part_of UBERON:0001042 ! chordate pharynx property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/4/4a/Illu_pharynx.jpg xsd:anyURI property_value: external_definition "The uppermost of the three regions of the throat (pharynx), situated behind the nasal cavity and extending from the posterior nares to the level above the soft palate. [TFD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000375", ontology="VHOG", source="http://bgee.unil.ch/", source="http://medical-dictionary.thefreedictionary.com/nasopharynx"} property_value: has_relational_adjective "nasopharyngeal" xsd:string property_value: taxon_notes "In humans - in front it communicates through the choanae with the nasal cavities. On its lateral wall is the pharyngeal ostium of the auditory tube, somewhat triangular in shape, and bounded behind by a firm prominence, the torus tubarius or cushion, caused by the medial end of the cartilage of the tube which elevates the mucous membrane" xsd:string [Term] id: UBERON:0001729 name: oropharynx namespace: uberon def: "The portion of the pharynx that lies between the soft palate and the upper edge of the epiglottis." [MGI:cwg, MP:0002252] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "mesopharynx" RELATED [Wikipedia:Pharynx] synonym: "oral part of pharynx" EXACT [] synonym: "pars oralis pharyngis" RELATED LATIN [Wikipedia:Oropharynx] xref: BTO:0005257 xref: CALOHA:TS-0718 xref: EFO:0001976 xref: EHDAA2:0004082 xref: EMAPA:25094 xref: EV:0100067 xref: FMA:54879 xref: GAID:340 xref: MA:0000351 xref: MAT:0000446 xref: MESH:D009960 xref: NCIT:C12762 xref: SCTID:263376008 xref: UMLS:C0521367 {source="ncithesaurus:Oropharynx"} xref: VHOG:0000457 xref: VSAO:0000034 xref: Wikipedia:Oropharynx xref: XAO:0004048 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0001007 ! digestive system relationship: part_of UBERON:0001042 ! chordate pharynx relationship: part_of UBERON:0005409 ! alimentary part of gastrointestinal system property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/4/4a/Illu_pharynx.jpg xsd:anyURI property_value: external_definition "One of the three anatomic divisions of the pharynx that lies posterior to the mouth and is continuous above with the nasopharynx and below with the laryngopharynx. It extends behind the mouth from the soft palate above to the level of the hyoid bone below and contains the palatine and lingual tonsils. [TFD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000457", ontology="VHOG", source="http://bgee.unil.ch/", source="http://medical-dictionary.thefreedictionary.com/oropharynx"} property_value: has_relational_adjective "oropharyngeal" xsd:string [Term] id: UBERON:0001732 name: pharyngeal tonsil namespace: uberon def: "The lymph tissue in the roof and posterior wall of the nasopharynx." [MGI:cwg, MP:0002384] subset: pheno_slim subset: uberon_slim synonym: "adenoid" EXACT [] synonym: "nasopharyngeal tonsil" EXACT [] synonym: "Rachenmandel" RELATED [BTO:0000777] synonym: "tonsil of Luschka" EXACT [] synonym: "tonsilla pharyngea" RELATED LATIN [Wikipedia:Pharyngeal_tonsil] synonym: "tonsilla pharyngealis" EXACT LATIN [FMA:54970, FMA:TA] xref: BTO:0000777 xref: EV:0100054 xref: FMA:54970 xref: GAID:1288 xref: MA:0000774 xref: MESH:D000234 xref: NCIT:C33318 xref: SCTID:181199001 xref: UMLS:C0001428 {source="ncithesaurus:Pharyngeal_Tonsil"} xref: Wikipedia:Pharyngeal_tonsil is_a: UBERON:0002372 ! tonsil relationship: part_of UBERON:0001728 ! nasopharynx property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/b/be/Gray994-adenoid.png xsd:anyURI [Term] id: UBERON:0001734 name: palatine uvula namespace: uberon def: "Conic projection from the posterior edge of the middle of the soft palate, composed of connective tissue containing a number of racemose glands, and some muscular fibers." [Wikipedia:Palatine_uvula] comment: seeAlso - bifid uvula and cleft palate subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "palatine uvula" EXACT [] synonym: "uvula" EXACT [FMA:55022] synonym: "uvula of palate" EXACT [] synonym: "uvula palatina" EXACT LATIN [FMA:55022, FMA:TA] synonym: "uvula palatina" RELATED LATIN [Wikipedia:Palatine_uvula] xref: BTO:0002204 xref: EFO:0001386 xref: FMA:55022 xref: GAID:1285 xref: MESH:D014609 xref: NCIT:C12232 xref: SCTID:362082005 xref: UMLS:C0042173 {source="ncithesaurus:Uvula"} xref: Wikipedia:Palatine_uvula is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000468 ! multicellular organism property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/8/81/Tonsils_diagram.jpg xsd:anyURI property_value: taxon_notes "In a study of eight mammals a small underdeveloped uvula was found only in baboons" xsd:string {source="PMID:1408233"} [Term] id: UBERON:0001736 name: submandibular gland namespace: uberon def: "Either of the paired compound tubuloalveolar (aka tubuloacinar) major salivary glands composed of both serous and mucous secretory cells and situated beneath the mandible." [DOI:10.1111/j.1432-0436.2006.00088.x, MGI:anna] comment: lobular, sexually dimorphic in mouse subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "glandula submandibularis" RELATED LATIN [Wikipedia:Submandibular_gland] synonym: "mandibular gland" EXACT SENSU [http://www.avdc.org/Nomenclature.pdf] synonym: "mandibular salivary gland" EXACT SENSU [http://www.avdc.org/Nomenclature.pdf] synonym: "maxillary gland" RELATED [] synonym: "submandibular salivary gland" EXACT [] synonym: "submaxillary gland" RELATED [] xref: BTO:0001316 xref: CALOHA:TS-0988 xref: EFO:0001387 xref: EMAPA:18812 xref: EV:0100061 xref: FMA:55093 xref: GAID:942 xref: MA:0001589 xref: MESH:D013363 xref: NCIT:C12233 xref: SCTID:181235001 xref: UMLS:C0038556 {source="ncithesaurus:Submandibular_Gland"} xref: VHOG:0000364 xref: Wikipedia:Submandibular_gland is_a: UBERON:0001044 ! saliva-secreting gland property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/5/51/Illu_quiz_hn_02.jpg xsd:anyURI property_value: external_definition "Either of two major salivary glands situated in the neck near the lower edge of each side of the mandible and emptying into the submandibular duct. [TFD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000364", ontology="VHOG", source="http://bgee.unil.ch/", source="http://medical-dictionary.thefreedictionary.com/submandibular+gland"} property_value: homology_notes "The most common oral glands in mammals are the salivary glands. There are usually three primary pairs of salivary glands, named for their approximate positions: mandibular (submandibular or submaxillary), sublingual, and parotid.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000364", ontology="VHOG", source="ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.525", source="http://bgee.unil.ch/"} property_value: taxon_notes "In humans, they account for 70% of the salivary volume and weigh about 15 grams. [WP,unvetted]" xsd:string property_value: taxon_notes "in mice, submandibular gland development initiates as a thickening of the oral epithelium; around E12 an initial (single) epithelial bud on a stalk grows into a condensing neural crest-derived mesenchyme; clefts in the epithelium result in 3-5 epithelial buds at E13.5, and branching morphogenesis occurs with continued proliferation, successive rounds of cleft formation, duct elongation, and duct lumen formation, so that by E14 the gland is highly branched (multi-lobed); functional differentiation, with the appearance of proacinar cells and secretory products begins after E15 and continues to birth; acinar differentiation continues postnatally with final differentiation of the granular convoluted tubules at puberty[MGI:anna]" xsd:string property_value: taxon_notes "In mouse, multilobed and lobulated, on the ventral midline of the neck" xsd:string {source="ISBN:0123813611"} property_value: UBPROP:0000011 "The submandibular is the first major salivary gland to develop in the embryo, followed by the neighbouring sublingual and then the parotid.[PMID:17336109]" xsd:string property_value: UBPROP:0000013 "The term submandibular as used in humans, is incorrect due the difference in topography of these structures[http://www.avdc.org]" xsd:string [Term] id: UBERON:0001737 name: larynx namespace: uberon def: "A continuation of the pharynx that is involved in breathing, sound production, and protecting the trachea against food aspiration." [http://orcid.org/0000-0002-6601-2165, Wikipedia:Larynx] subset: efo_slim subset: pheno_slim subset: uberon_slim xref: AAO:0000268 xref: BTO:0001208 xref: CALOHA:TS-0532 xref: EFO:0000838 xref: EHDAA2:0004063 xref: EMAPA:18333 xref: EV:0100039 xref: FMA:55097 xref: GAID:108 xref: galen:Larynx xref: MA:0000414 xref: MAT:0000187 xref: MESH:D007830 xref: MIAA:0000187 xref: NCIT:C12420 xref: SCTID:181212004 xref: UMLS:C0023078 {source="ncithesaurus:Larynx"} xref: VHOG:0001279 xref: Wikipedia:Larynx xref: XAO:0003081 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000065 ! respiratory tract property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/8/8a/Larynx_external_en.svg xsd:anyURI property_value: external_definition "An anatomical cluster consisting of the epiglottus, the arytenoid cartilages, the thyroid cartilage, the cricoid cartilage and the muscles, membranes, and ligaments connecting them, and also of the mucosal covering these structures.[FEED]" xsd:string {date_retrieved="2012-07-02", ontology="FEED", url="http://www.feedexp.org"} property_value: external_definition "Anatomical structure consisting of a narrowly triangular chamber supported by a series of semicircular cartilages in which part of the sound-production system is located.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000268", ontology="AAO", source="AAO:BJB"} property_value: has_relational_adjective "laryngeal" xsd:string property_value: homology_notes "(In anura) a dorsal pair of arytenoid cartilages (...), which support vocal cords, and a ventral pair (often fused) of cricoid cartilage (...). These cartilages are regarded as derivatives of posterior visceral arches of ancestors. Together they constitute the larynx, a structure characteristic of tetrapods. (...) (In mammals) Paired arytenoid cartilages help support and control the vocal cords. The cricoid cartilage is single. Two additional cartilages are present that are lacking in other vertebrates: a large ventral thyroid cartilage (...) and a cartilage in the epiglottis.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001279", ontology="VHOG", source="ISBN:978-0471090588 Hildebrand M, Analysis of vertebrate structure (1983) p.239-241", source="http://bgee.unil.ch/"} [Term] id: UBERON:0001744 name: lymphoid tissue namespace: uberon def: "Portion of connective tissue with various types of white blood cells enmeshed in it, most numerous being the lymphocytes[WP]." [Wikipedia:Lymphoid_tissue] subset: pheno_slim subset: uberon_slim synonym: "lymphatic tissue" EXACT [] synonym: "lymphocytic tissue" EXACT [] xref: BTO:0000753 xref: CALOHA:TS-0584 xref: FMA:55220 xref: GAID:342 xref: galen:LymphoidTissue xref: MA:0002436 xref: MESH:D008221 xref: NCIT:C13049 xref: SCTID:181768009 xref: UMLS:C0024296 {source="ncithesaurus:Lymphoid_Tissue"} xref: Wikipedia:Lymphoid_tissue is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0002465 ! lymphoid system relationship: RO:0002174 NCBITaxon:7776 {notes="lampreys lack organized lymphoid tissue", source="NCBIBook:NBK27108"} ! dubious_for_taxon [Term] id: UBERON:0001756 name: middle ear namespace: uberon def: "The middle ear is the air-filled cavity within the skull of vertebrates that lies between the outer ear and the inner ear. It is linked to the pharynx (and therefore to outside air) via the Eustachian tube and in mammals contains the three ear ossicles, which transmit auditory vibrations from the outer ear (via the tympanum) to the inner ear (via the oval window)[GO]." [GO:0042474, Wikipedia:Middle_ear] subset: pheno_slim subset: uberon_slim synonym: "auris media" RELATED LATIN [BTO:0002099, Wikipedia:Middle_ear] xref: AAO:0011065 xref: BIRNLEX:1695 xref: BTO:0002099 xref: CALOHA:TS-2233 xref: EHDAA2:0001181 xref: EHDAA:5693 xref: EMAPA:17000 xref: EV:0100357 xref: FMA:56513 xref: GAID:165 xref: MA:0000253 xref: MAT:0000146 xref: MESH:D004432 xref: MIAA:0000146 xref: NCIT:C12274 xref: SCTID:181185000 xref: UMLS:C0013455 {source="ncithesaurus:Middle_Ear", source="BIRNLEX:1695"} xref: UMLS:C1268972 {source="BIRNLEX:1695"} xref: VHOG:0000312 xref: Wikipedia:Middle_ear xref: XAO:0000191 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0001690 ! ear property_value: external_definition "The intermediate portion of the ear which consists of a small air-filled and membrane-lined chamber. It is lodged in the temporal bone and continues with the nasopharynx through the Eustachian tube. It is separated from the external ear by the tympanic membrane and from the inner ear by the fenestrae. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000312", ontology="VHOG", source="http://bgee.unil.ch/"} property_value: homology_notes "The tympanic cavity and auditory tube of an amniote develop from the first embryonic pharyngeal pouch, so they are homologous to the first gill pouch, or spiracle, of a fish. We are uncertain whether this homology strictly applies to the middle ear cavity and auditory tube of lissamphibians, which show certain peculiarities in their development.[uncertain][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000312", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.417", source="http://bgee.unil.ch/"} [Term] id: UBERON:0001759 name: vagus nerve namespace: uberon def: "Cranial nerve that branches into the lateral (to body sense organs) and the intestino-accessorial (to the skin, muscles of shoulder, hyoid, larynx, gut, lungs, and heart)." [ISBN:0471209627, Wikipedia:Vagus_nerve] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "10n" BROAD ABBREVIATION [BIRNLEX:801, NIFSTD:NeuroNames_abbrevSource] synonym: "CN-X" RELATED [] synonym: "cranial nerve X" RELATED [] synonym: "nerve X" RELATED [NeuroNames:702] synonym: "nervus vagus" RELATED LATIN [BTO:0003472, Wikipedia:Vagus_nerve] synonym: "nervus vagus [x]" EXACT LATIN [FMA:5731, FMA:TA] synonym: "pneuomgastric nerve" RELATED [BTO:0003472] synonym: "tenth cranial nerve" EXACT [] synonym: "vagal nerve" RELATED [] synonym: "vagus" EXACT [] synonym: "vagus nerve [X]" EXACT [] synonym: "vagus nerve or its root" RELATED [BAMS:10n] synonym: "vagus nerve tree" EXACT [] synonym: "vagus X nerve" EXACT [MA:0001106] xref: AAO:0010475 xref: BAMS:10n xref: BAMS:Xn xref: BIRNLEX:801 xref: BTO:0003472 xref: EFO:0002549 xref: EMAPA:37797 {source="MA:th"} xref: FMA:5731 xref: GAID:721 xref: galen:VagusNerve xref: HBA:9337 xref: MA:0001106 xref: MBA:917 xref: MESH:D014630 xref: NCIT:C12812 xref: neuronames:702 {source="BIRNLEX:801"} xref: SCTID:362466001 xref: TAO:0000453 xref: UMLS:C0042276 {source="ncithesaurus:Vagus_Nerve", source="BIRNLEX:801"} xref: UMLS:C1305910 {source="BIRNLEX:801"} xref: VHOG:0000737 xref: Wikipedia:Vagus_nerve xref: XAO:0003097 xref: ZFA:0000453 is_a: EFO:0000792 ! craniofacial tissue is_a: UBERON:0001021 ! nerve relationship: part_of UBERON:0000033 ! head relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0001033 ! gustatory system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/5/5e/Gray791.png xsd:anyURI property_value: external_definition "Nerve consisting of branchiomotor and visceral efferent fibers which branch and innervate the smooth muscles and glands of the heart, lungs, esophagus, and stomach as well as some throat muscles. Sensory fibers supply mucosa of the mouth and pharynx.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010475", ontology="AAO", source="AAO:EJS"} property_value: homology_notes "We conclude this section by listing some of the many synapomorphies of craniates, including (...) (5) cranial nerves (...) (reference 1); Phylogenetically, the cranial nerves are thought to have evolved from dorsal and ventral nerves of a few anterior spinal nerves that became incorporated into the braincase. Dorsal and ventral nerves fuse in the trunk but not in the head, and they produce two series: dorsal cranial nerves (V, VII, IX, and X) and ventral cranial nerves (III, IV, VI, and XIII) (reference 2).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000737", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.43, ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.625", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001769 name: iris namespace: uberon def: "The adjustable membrane, composed of the stroma and pigmented epithelium, located just in front of the crystalline lens within the eye." [ISBN:0-683-40008-8, MP:0001322] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "anterior uvea" RELATED [] synonym: "irides" RELATED PLURAL [] synonym: "irises" RELATED PLURAL [VHOG:0000101] xref: AAO:0010347 xref: BTO:0000653 xref: CALOHA:TS-0491 xref: EFO:0004245 xref: EMAPA:19154 xref: EV:0100345 xref: FMA:58235 xref: GAID:917 xref: MA:0000273 xref: MESH:D007498 xref: NCIT:C12737 xref: SCTID:181164000 xref: TAO:0001238 xref: UMLS:C0022077 {source="ncithesaurus:Iris"} xref: VHOG:0000101 xref: Wikipedia:Iris_(anatomy) xref: XAO:0000185 xref: ZFA:0001238 is_a: UBERON:0000061 ! anatomical structure property_value: external_definition "The opaque muscular contractile diaphragm suspended in the aqueous humour in front of the lens of the eye. The organ is perforated by the pupil and continues peripherally with the ciliary body. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000101", ontology="VHOG", source="http://bgee.unil.ch/"} property_value: has_relational_adjective "iridial" xsd:string property_value: homology_notes "The eye of the adult lamprey is remarkably similar to our own, and it possesses numerous features (including the expression of opsin genes) that are very similar to those of the eyes of jawed vertebrates. The lamprey's camera-like eye has a lens, an iris and extra-ocular muscles (five of them, unlike the eyes of jawed vertebrates, which have six), although it lacks intra-ocular muscles. Its retina also has a structure very similar to that of the retinas of other vertebrates, with three nuclear layers comprised of the cell bodies of photoreceptors and bipolar, horizontal, amacrine and ganglion cells. The southern hemisphere lamprey, Geotria australis, possesses five morphological classes of retinal photoreceptor and five classes of opsin, each of which is closely related to the opsins of jawed vertebrates. Given these similarities, we reach the inescapable conclusion that the last common ancestor of jawless and jawed vertebrates already possessed an eye that was comparable to that of extant lampreys and gnathostomes. Accordingly, a vertebrate camera-like eye must have been present by the time that lampreys and gnathostomes diverged, around 500 Mya.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000101", ontology="VHOG", source="DOI:10.1038/nrn2283 Lamb TD, Collin SP and Pugh EN Jr, Evolution of the vertebrate eye: opsins, photoreceptors, retina and eye cup. Nature Reviews Neuroscience (2007)", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "The avian iris and ciliary body undergoes a transition from smooth-to-striated muscle during embryonic development [DOI:dx.doi.org/10.1006/dbio.1998.9019]" xsd:string [Term] id: UBERON:0001772 name: corneal epithelium namespace: uberon def: "The smooth stratified squamous epithelium that covers the outer surface of the cornea." [MESH:A09.371.060.217.325, MGI:smb, MP:0006000] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "anterior corneal epithelium" EXACT [] synonym: "anterior endothelium of cornea" RELATED [BTO:0000287] synonym: "cornea epithelial tissue" EXACT [OBOL:automatic] synonym: "cornea epithelium" EXACT [OBOL:automatic] synonym: "e. anterius corneae" RELATED LATIN [Wikipedia:Corneal_epithelium] synonym: "endothelium anterius corneae" RELATED [BTO:0000287] synonym: "endothelium camerae anterioris bulbi" RELATED [BTO:0000287] synonym: "endothelium corneale" RELATED [BTO:0000287] synonym: "epithelial tissue of cornea" EXACT [OBOL:automatic] synonym: "epithelium anterius (cornea)" EXACT [] synonym: "epithelium anterius corneae" EXACT LATIN [FMA:58263, FMA:TA] synonym: "epithelium corneæ anterior layer" EXACT [] synonym: "epithelium of cornea" EXACT [] synonym: "epithelium posterius corneae" RELATED [BTO:0000287] synonym: "external epithelium of cornea" EXACT [] xref: BTO:0000287 xref: CALOHA:TS-0173 xref: EFO:0001917 xref: EHDAA2:0000319 xref: EMAPA:17162 xref: FMA:58263 xref: GAID:895 xref: MA:0001243 xref: MESH:D019573 xref: NCIT:C12928 xref: SCTID:368825001 xref: TAO:0002187 xref: UMLS:C0459875 {source="ncithesaurus:Corneal_Epithelium"} xref: Wikipedia:Corneal_epithelium xref: ZFA:0001683 is_a: UBERON:0000483 ! epithelium relationship: part_of UBERON:0000964 ! cornea relationship: part_of UBERON:0000970 ! eye property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/6/66/Gray871.png xsd:anyURI property_value: external_definition "Portion of tissue comprised of four to six layers of nonkeratinized, stratified squamous cells and represents approximately 60% of the thickness of the cornea.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0002187", ontology="TAO", source="ZFIN:ZDB-PUB-061010-3"} property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "In Humans: It consists of several layers of cells. The cells of the deepest layer are columnar; then follow two or three layers of polyhedral cells, the majority of which are prickle cells similar to those found in the stratum mucosum of the cuticle. Lastly, there are three or four layers of squamous cells, with flattened nuclei" xsd:string property_value: taxon_notes "In zebrafish: nonpigmented, stratified squamous nonkeratinizing epithelial cells, attached to a thick basement membrane that is considered to be analogous to the Bowman's membrane in mammals" xsd:string [Term] id: UBERON:0001774 name: skeletal muscle of trunk namespace: uberon def: "A skeletal muscle organ that is part of the trunk region." [http://orcid.org/0000-0002-6601-2165] subset: uberon_slim subset: vertebrate_core synonym: "body musculature" EXACT [ZFA:0000473] synonym: "muscle of trunk" EXACT [FMA:58274] synonym: "muscle organ of torso" EXACT [OBOL:automatic] synonym: "muscle organ of trunk" EXACT [OBOL:automatic] synonym: "torso muscle organ" EXACT [OBOL:automatic] synonym: "trunk muscle" EXACT [] synonym: "trunk muscle organ" EXACT [OBOL:automatic] synonym: "trunk musculature" EXACT [] xref: AAO:0000611 xref: EMAPA:35888 xref: FMA:58274 xref: MA:0000514 xref: TAO:0000473 xref: XAO:0003230 xref: ZFA:0000473 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0014892 ! skeletal muscle organ intersection_of: UBERON:0014892 ! skeletal muscle organ intersection_of: part_of UBERON:0002100 ! trunk relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0002100 ! trunk property_value: IAO:0000116 "Note that this class excludes smooth muscle elements in the trunk region, such as the internal anal sphincter. This appears to be consistent with other ontologies such as FMA and ZFA which appear to only include skeletal muscles here. In fact the MA class 'trunk muscle' is classified as a 'set of skeletal muscles'." xsd:string property_value: UBPROP:0000012 "Many ontologies do not appear to have a coherent distinction between an individual muscle and the musculature (i.e. the set of muscles in a region), so we group all together here." xsd:string [Term] id: UBERON:0001777 name: substantia propria of cornea namespace: uberon def: "The lamellated connective tissue of the cornea between the Bowman and Descemet membranes." [ISBN:0-683-40008-8, MESH:A09.371.060.217.228, MP:0005300] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "corneal stroma" EXACT [MA:0001245] synonym: "stroma of cornea" EXACT [] synonym: "substantia propria" BROAD [] synonym: "substantia propria corneae" EXACT LATIN [FMA:58306, FMA:TA] xref: CALOHA:TS-1138 xref: EFO:0002514 xref: EMAPA:17602 xref: FMA:58306 xref: GAID:893 xref: MA:0001245 xref: MESH:D003319 xref: NCIT:C12699 xref: SCTID:362511000 xref: TAO:0002189 xref: UMLS:C0010040 {source="ncithesaurus:Corneal_Stroma"} xref: Wikipedia:Corneal_stroma xref: ZFA:0001685 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000964 ! cornea property_value: axiom_lost_from_external_ontology "relationship type change: subclass tissue (CARO:0000043) CHANGED TO: develops_from tissue (UBERON:0000479)[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0002189", ontology="TAO"} property_value: axiom_lost_from_external_ontology "relationship type change: subclass tissue (CARO:0000043) CHANGED TO: has_developmental_contribution_from tissue (UBERON:0000479)[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0002189", ontology="TAO"} property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/6/66/Gray871.png xsd:anyURI property_value: external_definition "Portion of tissue that is located basal to Bowman's layer and distal to Descemet's membrane and is comprised largely of connective tissue.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0002189", ontology="TAO", source="ZFIN:ZDB-PUB-061010-3"} [Term] id: UBERON:0001783 name: optic disc namespace: uberon def: "The optic disc or optic nerve head is the location where ganglion cell axons exit the eye to form the optic nerve. There are no light sensitive rods or cones to respond to a light stimulus at this point. This causes a break in the visual field called 'the blind spot' or the 'physiological blind spot'. The optic nerve head in a normal human eye carries from 1 to 1.2 million neurons from the eye towards the brain. [WP,unvetted]." [Wikipedia:Optic_disc] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "optic disk" EXACT [MESH:A08.800.800.120.680.660] synonym: "optic disk" RELATED [Wikipedia:Optic_disc] synonym: "optic nerve disc" RELATED [Wikipedia:Optic_disc] synonym: "optic nerve head" RELATED [Wikipedia:Optic_disc] synonym: "optic papilla" RELATED [Wikipedia:Optic_disc] synonym: "physiologic blind spot" RELATED [Wikipedia:Optic_disc] synonym: "physiologic blind spot of mariotte" RELATED [Wikipedia:Optic_disc] xref: CALOHA:TS-2153 xref: EFO:0001974 xref: EHDAA2:0001307 xref: EHDAA:9077 xref: EMAPA:18238 xref: FMA:58634 xref: MA:0000278 xref: MESH:D009898 xref: NCIT:C12760 xref: SCTID:362518006 xref: UMLS:C0029127 {source="ncithesaurus:Optic_Disc"} xref: VHOG:0000551 xref: Wikipedia:Optic_disc is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000966 ! retina property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/e/ed/Gray879.png xsd:anyURI property_value: external_definition "The small blind spot on the surface of the retina. It is the point where the fibers of the retina leave the eye and become part of the optic nerve. [TFD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000551", ontology="VHOG", source="http://bgee.unil.ch/", source="http://medical-dictionary.thefreedictionary.com/optic+disc"} property_value: homology_notes "(...) we reach the inescapable conclusion that the last common ancestor of jawless and jawed vertebrates already possessed an eye that was comparable to that of extant lampreys and gnathostomes. Accordingly, a vertebrate camera-like eye must have been present by the time that lampreys and gnathostomes diverged, around 500 Mya (reference 1); Although the eye varies greatly in adaptative details among vertebrates, its basic structure is the same in all. The human eye is representative of the design typical for a tetrapod (reference 2).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000551", ontology="VHOG", source="DOI:10.1038/nrn2283 Lamb TD, Collin SP and Pugh EN Jr, Evolution of the vertebrate eye: opsins, photoreceptors, retina and eye cup. Nature Reviews Neuroscience (2007), ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.424 and p.426 and p.429 and Figure 12-24", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001811 name: conjunctiva namespace: uberon def: "The mucous membrane that lines the inner surface of the eyelids and the front of the eyeball." [MESH:A09.371.060.200, MGI:csmith, MP:0001310] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "conjunctivae" EXACT PLURAL [XAO:0000182] synonym: "conjunctivas" EXACT PLURAL [XAO:0000182] synonym: "tunica conjunctiva" EXACT LATIN [FMA:TA] synonym: "wall of conjunctival sac" EXACT [FMA:59011] xref: AAO:0010343 xref: BTO:0003415 xref: CALOHA:TS-2232 xref: EFO:0000374 xref: EMAPA:18233 xref: EV:0100340 xref: FMA:59011 xref: GAID:898 xref: MA:0000265 xref: MESH:D003228 xref: NCIT:C12341 xref: SCTID:181161008 xref: UMLS:C0009758 {source="ncithesaurus:Conjunctiva"} xref: Wikipedia:Conjunctiva xref: XAO:0000182 is_a: UBERON:0000061 ! anatomical structure property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/5/55/Gray883.png xsd:anyURI property_value: has_relational_adjective "conjunctival" xsd:string property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001817 name: lacrimal gland namespace: uberon def: "The lacrimal glands are paired almond-shaped glands, located in or near the orbital region, that secrete the aqueous layer of the tear film.[WP]." [http://orcid.org/0000-0002-6601-2165, Wikipedia:Lacrimal_gland] subset: efo_slim subset: organ_slim subset: pheno_slim subset: uberon_slim synonym: "glandula lacrimalis" EXACT LATIN [Wikipedia:Lacrimal_gland] synonym: "glandula praeorbitalis" RELATED SENSU [NCBITaxon:91561, Wikipedia:Preorbital_gland] synonym: "lacrimal-preorbital gland" EXACT [http://orcid.org/0000-0002-6601-2165] synonym: "preorbital gland" RELATED SENSU [NCBITaxon:91561, Wikipedia:Preorbital_gland] synonym: "tear gland" RELATED [BTO:0000044] xref: BTO:0000044 xref: CALOHA:TS-0512 xref: EFO:0001389 xref: EMAPA:35463 xref: EV:0100339 xref: FMA:59101 xref: MA:0001296 xref: NCIT:C12346 xref: SCTID:181147003 xref: UMLS:C0022907 {source="ncithesaurus:Lacrimal_Gland"} xref: VHOG:0001476 xref: Wikipedia:Lacrimal_gland xref: Wikipedia:Preorbital_gland is_a: UBERON:0002530 ! gland relationship: never_in_taxon NCBITaxon:8570 {source="PMID:7559104"} relationship: part_of UBERON:0000970 ! eye property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/c/cf/Gray896.png xsd:anyURI property_value: external_definition "Lobular organ the parenchyma of which consists of glandular acini which communicate the lacrimal sac. Examples: There only two instances, right lacrimal and left lacrimal glands." xsd:string {source="FMA:59101"} property_value: external_definition "The preorbital gland is a paired exocrine gland found in many species of hoofed animals, which is homologous to the lacrimal gland found in humans. These glands are trenchlike slits of dark blue to black, nearly bare skin extending from the medial canthus of each eye. They are lined by a combination of sebaceous and sudoriferous glands, and they produce secretions which contain pheromones and other semiochemical compounds. Ungulates frequently deposit these secretions on twigs and grass as a means of communication with other animals. The preorbital gland serves different roles in different species. Pheromone-containing secretions from the preorbital gland may serve to establish an animal's dominance (especially in preparation for breeding), mark its territory, or simply to produce a pleasurable sensation to the animal. Because of its critical role in scent marking, the preorbital gland is usually considered as a type of scent gland. A further function of these glands may be to produce antimicrobial compounds against skin pathogens. Antimicrobial compounds found in these glands may be biosynthesized by the animal itself, or by microorganisms that live in these glands[Wikipedia:Preorbital_gland]." xsd:string {source="Wikipedia:Preorbital_gland"} property_value: taxon_notes "In humans, they are situated in the upper, outer portion of each orbit" xsd:string property_value: taxon_notes "Innervation is highly complex and species-specific" xsd:string property_value: UBPROP:0000006 https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern xsd:anyURI [Term] id: UBERON:0001820 name: sweat gland namespace: uberon def: "Any of the coil glands of the skin that secrete sweat." [ISBN:0-683-40008-8, MP:0000674] subset: organ_slim subset: pheno_slim subset: uberon_slim synonym: "glandula sudorifera" RELATED [BTO:0001331] synonym: "sudoriferous gland" RELATED [BTO:0001331] synonym: "sudoriparous gland" RELATED [BTO:0001331] xref: BTO:0001331 xref: CALOHA:TS-0993 xref: EMAPA:35844 xref: EV:0100160 xref: FMA:59152 xref: GAID:943 xref: MA:0000150 xref: MESH:D013545 xref: NCIT:C33712 xref: SCTID:361700009 xref: UMLS:C0038989 {source="ncithesaurus:Sweat_Gland"} xref: VHOG:0001467 xref: Wikipedia:Sweat_gland is_a: UBERON:0002530 ! gland relationship: part_of UBERON:0001003 ! skin epidermis relationship: part_of UBERON:0002097 ! skin of body relationship: part_of UBERON:0002416 ! integumental system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/6/6d/Skin.svg xsd:anyURI property_value: external_definition "A gland that secretes sweat, found in the dermis or subcutaneous tissue, opening by a duct on the body surface. [TFD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001467", ontology="VHOG", source="http://bgee.unil.ch/", source="http://medical-dictionary.thefreedictionary.com/sweat+gland"} property_value: homology_notes "Sweat glands (also called sudoriferous glands) are unique to mammals.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001467", ontology="VHOG", source="ISBN:978-0471090588 Hildebrand M, Analysis of vertebrate structure (1983) p.101", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "TODO - check if all sweat glands are epidermal - see EMAPA:29743" xsd:string property_value: taxon_notes "In humans a system of apocrine - and merocrine sweat glands is the main method of cooling. Many other mammals rely on panting or other means as a primary source of cooling, but still use sweat glands to aid in body temperature regulation" xsd:string [Term] id: UBERON:0001828 name: gingiva namespace: uberon def: "The fibrous investing tissue, covered by keratinized epithelium, that immediately surrounds a tooth and is contiguous with its periodontal ligament and with the mucosal tissues of the mouth[Glossary of Periodontal Terms 2001]." [ISBN:0013002015, Wikipedia:Gingiva] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "gingival mucosa" RELATED [] synonym: "gum" EXACT [FMA:59762] synonym: "gum tissue" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "gums" EXACT [] xref: BTO:0000519 xref: CALOHA:TS-2074 xref: EFO:0001925 xref: EMAPA:35945 xref: EV:0100064 xref: FMA:59762 xref: GAID:1257 xref: galen:Gingiva xref: MA:0000342 xref: MESH:D005881 xref: NCIT:C32677 xref: SCTID:181224006 xref: UMLS:C0017562 {source="ncithesaurus:Gingiva"} xref: VHOG:0001269 xref: Wikipedia:Gingiva is_a: UBERON:0003729 ! mouth mucosa relationship: part_of UBERON:0003729 ! mouth mucosa property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/2/2e/Tooth_Section.svg xsd:anyURI property_value: has_relational_adjective "gingival" xsd:string property_value: IAO:0000116 "FMA has a 3-level breakdown of jaws into: region, jaw (skeleton+gums), skeleton." xsd:string [Term] id: UBERON:0001830 name: minor salivary gland namespace: uberon def: "One of the smaller, largely mucus-secreting, exocrine glands of the oral cavity, consisting of the labial, buccal, molar, lingual, and palatine glands[MP]." [MP:0003791, Wikipedia:Salivary_gland#Minor_Salivary_Glands] comment: There are over 600 minor salivary glands located throughout the oral cavity within the lamina propria of the oral mucosa. They are 1-2mm in diameter and unlike the other glands, they are not encapsulated by connective tissue only surrounded by it. The gland is usually a number of acini connected in a tiny lobule. A minor salivary gland may have a common excretory duct with another gland, or may have its own excretory duct. Their secretion is mainly mucous in nature (except for von Ebner's glands) and have many functions such as coating the oral cavity with saliva[WP]. subset: organ_slim subset: pheno_slim xref: EMAPA:35574 xref: FMA:59789 xref: GAID:940 xref: galen:MinorSalivaryGland xref: MA:0002479 xref: MESH:D012470 xref: NCIT:C33129 xref: SCTID:362177001 xref: UMLS:C0036099 {source="ncithesaurus:Minor_Salivary_Gland"} xref: Wikipedia:Salivary_gland#Minor_Salivary_Glands is_a: UBERON:0001044 ! saliva-secreting gland [Term] id: UBERON:0001831 name: parotid gland namespace: uberon def: "The parotid gland is the largest of the salivary glands. It is found wrapped around the mandibular ramus, and it secretes saliva through Stensen's duct into the oral cavity, to facilitate mastication and swallowing. [WP,unvetted]." [Wikipedia:Parotid_gland] comment: The mouse parotid, exorbital lacrimal gland and exocrine pancreas have similar histological appearances[ISBN:0123813611] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "glandula parotidea" RELATED LATIN [Wikipedia:Parotid_gland] synonym: "parotid" EXACT [] xref: AAO:0010095 xref: BTO:0001004 xref: CALOHA:TS-0748 xref: EFO:0002558 xref: EMAPA:18537 xref: EV:0100060 xref: FMA:59790 xref: GAID:938 xref: galen:ParotidGland xref: MA:0001585 xref: MESH:D010306 xref: NCIT:C12427 xref: SCTID:181234002 xref: UMLS:C0030580 {source="ncithesaurus:Parotid_Gland"} xref: VHOG:0000308 xref: Wikipedia:Parotid_gland is_a: UBERON:0001044 ! saliva-secreting gland property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/5/51/Illu_quiz_hn_02.jpg xsd:anyURI property_value: external_definition "A mammalian salivary gland located caudal to the ear. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-22, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000308", ontology="VHOG", source="http://bgee.unil.ch/"} property_value: homology_notes "The most common oral glands in mammals are the salivary glands. There are usually three primary pairs of salivary glands, named for their approximate positions: mandibular (submandibular or submaxillary), sublingual, and parotid.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000308", ontology="VHOG", source="ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.525", source="http://bgee.unil.ch/"} [Term] id: UBERON:0001836 name: saliva namespace: uberon def: "A fluid produced in the oral cavity by salivary glands, typically used in predigestion, but also in other functions." [GO:0046541, Wikipedia:Saliva] subset: uberon_slim synonym: "sailva normalis" RELATED LATIN [Wikipedia:Saliva] synonym: "saliva atomaris" RELATED LATIN [Wikipedia:Saliva] synonym: "saliva molecularis" RELATED LATIN [Wikipedia:Saliva] synonym: "salivary gland secretion" EXACT [FMA:59862] xref: BTO:0001202 xref: CALOHA:TS-0891 xref: EMAPA:36536 xref: ENVO:02000036 xref: FMA:59862 xref: GAID:1167 xref: galen:Saliva xref: MA:0002507 xref: MAT:0000444 xref: MESH:D012463 xref: NCIT:C13275 xref: UMLS:C0036087 {source="ncithesaurus:Saliva"} xref: Wikipedia:Saliva is_a: UBERON:0001062 ! anatomical entity relationship: part_of UBERON:0000468 ! multicellular organism property_value: has_relational_adjective "salivary" xsd:string property_value: taxon_notes "We classify a wide variety of not necessarily homologous fluids here. In humans, the saliva is a turbid and slightly viscous fluid, generally of an alkaline reaction, and is secreted by the parotid, submaxillary, and sublingual glands. In the mouth the saliva is mixed with the secretion from the buccal glands. In man and many animals, saliva is an important digestive fluid on account of the presence of the peculiar enzyme, ptyalin" xsd:string {source="GO"} [Term] id: UBERON:0001839 name: bony labyrinth namespace: uberon def: "A system of fluid passages in the inner ear, including both the cochlea, which is part of the auditory system, and the vestibular system, which provides the sense of balance. The bony labyrinth, or osseous labyrinth, is the network of passages with bony walls lined with periosteum. The bony labyrinth is lined with the membranous labyrinth. There is a layer of perilymph between them. The three parts of the bony labyrinth are the vestibule of the ear, the semicircular canals, and the cochlea. The vestibular system is the region of the inner ear where the semicircular canals converge, close to the cochlea (the hearing organ). The vestibular system works with the visual system to keep objects in focus when the head is moving. Joint and muscle receptors also are important in maintaining balance. The brain receives, interprets, and processes the information from these systems that control our balance. [WP,unvetted]." [Wikipedia:Bony_labyrinth] comment: Ideally we would place a spatially disjoint from relationship to membranous labyrinth, but there are many parts in common. this should be resolved. subset: pheno_slim subset: uberon_slim synonym: "labyrinthus osseus" RELATED LATIN [Wikipedia:Bony_labyrinth] synonym: "osseous labyrinth" EXACT [] synonym: "osseus labyrinth" RELATED [] xref: AAO:0011078 xref: BTO:0004685 xref: CALOHA:TS-2080 xref: EMAPA:36580 xref: EV:0100362 xref: FMA:60179 xref: MA:0000238 xref: NCIT:C33227 xref: SCTID:279727008 xref: UMLS:C0458699 {source="ncithesaurus:Osseous_Labyrinth"} xref: VHOG:0001219 xref: Wikipedia:Bony_labyrinth xref: XAO:0000193 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0001846 ! internal ear property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/2/22/Gray920.png xsd:anyURI [Term] id: UBERON:0001844 name: cochlea namespace: uberon def: "The spiral-shaped bony canal in the inner ear containing the hair cells that transduce sound. Its core component is the Organ of Corti, the sensory organ of hearing, which is distributed along the partition separating fluid chambers in the coiled tapered tube of the cochlea. [WP,modified]." [ISBN:0-683-40008-8, MP:0000031, Wikipedia:Cochlea] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "cochleae" RELATED PLURAL [] synonym: "cochlear duct" RELATED [] synonym: "cochlear organ" RELATED [BTO:0000267] synonym: "cochlear part of bony labyrinth" EXACT [] synonym: "lagena" EXACT SENSU [XAO:0000197] synonym: "lagenas" RELATED PLURAL [ZFA:0000374] xref: AAO:0000253 xref: BIRNLEX:1190 xref: BTO:0000267 xref: CALOHA:TS-0151 xref: EFO:0000357 xref: EMAPA:17597 xref: EV:0100363 xref: FMA:60201 xref: GAID:724 xref: MA:0000240 xref: MAT:0000144 xref: MESH:D003051 xref: MIAA:0000144 xref: NCIT:C12395 xref: NIFSTD_RETIRED:birnlex_883 xref: SCTID:181187008 xref: TAO:0000374 xref: UMLS:C0009195 {source="ncithesaurus:Cochlea", source="BIRNLEX:1190"} xref: UMLS:C1278895 {source="BIRNLEX:1190"} xref: VHOG:0000691 xref: Wikipedia:Cochlea xref: XAO:0000197 xref: ZFA:0000374 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0001839 ! bony labyrinth property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/c/c7/Cochlea-crosssection.png xsd:anyURI property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/c/cb/Cochlea-crosssection.svg xsd:anyURI property_value: external_definition "A spiral-shaped cavity in the petrous portion of the temporal bone of the inner ear, containing the nerve endings essential for hearing and forming one of the divisions of the labyrinth. [TFD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000691", ontology="VHOG", source="http://bgee.unil.ch/", source="http://medical-dictionary.thefreedictionary.com/cochlea"} property_value: has_relational_adjective "cochlear" xsd:string property_value: homology_notes "Because achieving high sensitivity is generally advantageous for auditory organs, it is not surprising that evidence for cochlear amplification is also seen in nonmammals. Spontaneous otoacoustic emissions (SOAEs) are narrow-band sound signals emitted from the inner ear, and it is generally assumed that their energy derives from the hair-cell molecular motors underlying cochlear amplification. However, all terrestrial vertebrates studied so far (including amphibians) show very similar SOAEs. The most parsimonious explanation for the universality of this phenomena is that some kind of amplifying mechanism is at least as old as land vertebrates themselves.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000691", ontology="VHOG", source="DOI:10.1016/S0959-4388(98)80033-0 Manley GA, Koeppl C, Phylogenetic development of the cochlea and its innervation. Current Opinion in Neurobiology (1998)", source="http://bgee.unil.ch/"} property_value: taxon_notes "The association with 'lagena' in frog and fish comes from HOG, although HOG is inconsistent here, associating lagena with XAO cochlea and ZFA cochlear duct. NBK53175 says: 'In contrast, the ventrally located auditory chambers have undergone more extensive evolutionary modifications. The saccule and lagena are prominent auditory organs in fish but the saccule has a vestibular role in mammals and birds, and the lagena is absent in mammals. The primary au- ditory organ in mammals and birds is the cochlea, which has no known counterpart in amphibians and fish (Riley and Phillips, 2003)'" xsd:string property_value: taxon_notes "the cochlea is coiled in most mammals, monotremes being the exceptions." xsd:string property_value: UBPROP:0000012 "sources vary in connection to bony labyrinth" xsd:string {external_ontology="XAO"} [Term] id: UBERON:0001846 name: internal ear namespace: uberon def: "Complex labyrinthine structure that comprises sensory endorgans specialized for vestibular, auditory, and acoustico-vestibular sensation." [PMID:16217737, Wikipedia:Internal_ear, ZFIN:curator] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "auris interna" RELATED [BTO:0000630] synonym: "inner ear" EXACT [] synonym: "labyrinth" RELATED [] synonym: "otocyst" RELATED [] xref: AAO:0000238 xref: BIRNLEX:1196 xref: BTO:0000630 xref: CALOHA:TS-0478 xref: EFO:0001363 xref: EHDAA2:0000831 xref: EHDAA:504 xref: EMAPA:16194 xref: EV:0100361 xref: FMA:60909 xref: GAID:871 xref: galen:InnerEar xref: MA:0000237 xref: MAT:0000145 xref: MESH:D007758 xref: MIAA:0000145 xref: NCIT:C12499 xref: SCTID:181189006 xref: SCTID:304982002 xref: TAO:0000217 xref: UMLS:C0022889 {source="ncithesaurus:Internal_Ear", source="BIRNLEX:1196"} xref: UMLS:C1268973 {source="BIRNLEX:1196"} xref: VHOG:0000284 xref: Wikipedia:Internal_ear xref: XAO:0000192 xref: ZFA:0000217 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0001690 ! ear property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/1/19/Gray923.png xsd:anyURI property_value: external_definition "The auditory (hearing) and vestibular (balance) organ of the fish, equivalent to the inner ear of amniotes. (See Anatomical Atlas entry for ear by T. Whitfield.)[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000217", ontology="TAO", source="ZFIN:curator"} property_value: homology_notes "The labyrinth, or inner ear, evolved very early in vertebrate history and, with many variations in configuration but none of basic design and function, has been retained by all vertebrates.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000284", ontology="VHOG", source="ISBN:978-0471090588 Hildebrand M, Analysis of vertebrate structure (1983) p.366", source="http://bgee.unil.ch/"} [Term] id: UBERON:0001869 name: cerebral hemisphere namespace: uberon def: "One of two bilateral, largely symmetrical organ subdivisions within the telencephalon which contain the cerebral cortex and cerebral white matter.[FMA]." [FMA:61817, Wikipedia:Cerebral_hemisphere] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "cerebrum" RELATED [https://github.com/obophenotype/uberon/issues/1208, MA:0000133, VHOG:0001639] synonym: "hemisphere" RELATED [VHOG:0001639] synonym: "hemispheric regions" RELATED [BAMS:HEM] synonym: "hemispherium cerebri" RELATED LATIN [Wikipedia:Cerebral_hemisphere] synonym: "medial amygdalar nucleus" RELATED [NeuroNames:241] synonym: "nucleus amygdaloideus medialis" RELATED LATIN [NeuroNames:241] synonym: "nucleus medialis amygdalae" RELATED LATIN [NeuroNames:241] xref: AAO:0010480 xref: BAMS:HEM xref: BIRNLEX:1042 xref: BTO:0000231 xref: CALOHA:TS-2007 xref: DMBA:15739 xref: EFO:0002521 xref: EMAPA:16653 xref: FMA:61817 xref: galen:CerebralHemisphere xref: MA:0000133 xref: MBA:403 xref: NCIT:C12351 xref: neuronames:241 {source="BIRNLEX:1042"} xref: SCTID:278251007 xref: UMLS:C0228174 {source="ncithesaurus:Cerebral_Hemisphere"} xref: UMLS:C0242202 {source="BIRNLEX:1042"} xref: VHOG:0001639 xref: Wikipedia:Cerebral_hemisphere is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0001893 ! telencephalon property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/9/92/Hemispheres.png xsd:anyURI property_value: external_definition "Part of the telencephalon consisting of either of the two smooth, elongated halves of the cerebrum.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010480", ontology="AAO", source="AAO:BJB"} property_value: homology_notes "The presence of paired evaginated hemispheres and olfactory bulbs in both agnathan and gnathostome radiations suggests that such hemispheres were also present in the common ancestor.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001639", ontology="VHOG", source="DOI:10.1146/annurev.ne.04.030181.001505 Northcutt RG, Evolution of the telencephalon in nonmammals. Ann. Rev. Neurosci. (1981)", source="http://bgee.unil.ch/"} [Term] id: UBERON:0001870 name: frontal cortex namespace: uberon def: "Anterior portion of the neocortex, lying anterior to the central sulcus in humans. It is bounded by the parietal cortex posteriorly and the temporal cortex laterally[NIFSTD,modified]." [NLXANAT:20090601] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "cortex of frontal lobe" EXACT [FMA:242199] synonym: "frontal lobe cortex" EXACT [FMA:242199] synonym: "frontal neocortex" RELATED [DHBA:10161] synonym: "gray matter of frontal lobe" EXACT [FMA:242199] synonym: "grey matter of frontal lobe" EXACT [] xref: BTO:0000484 xref: DHBA:10161 xref: DMBA:16002 xref: EMAPA:35357 xref: FMA:242199 xref: GAID:674 xref: MA:0000905 xref: NLXANAT:20090601 xref: Wikipedia:Frontal_lobe is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001017 ! central nervous system relationship: part_of UBERON:0001869 ! cerebral hemisphere relationship: part_of UBERON:0001890 ! forebrain relationship: part_of UBERON:0001893 ! telencephalon relationship: part_of UBERON:0001950 ! neocortex relationship: part_of UBERON:0016525 ! frontal lobe property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/b/b4/Gray729.png xsd:anyURI property_value: external_definition "Anterior portion of the frontal cortex, lying anterior to the central sulcus. It is bounded by the parietal cortex posteriorly and the temporal cortex laterally." xsd:string {source="NLXANAT:20090601"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001871 name: temporal lobe namespace: uberon def: "Lower lateral part of the cerebral hemisphere. (MSH)." [BIRNLEX:1160] comment: Boundary notes: It is bounded dorsally by the lateral fissure and posteriorly by an arbitrary border shared with the occipital lobe. [Wikipedia:Temporal_lobe] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "lobus temporalis" EXACT LATIN [Wikipedia:Temporal_lobe] synonym: "temporal cortex" NARROW [] xref: BAMS:Temporal_lobe xref: BAMS:TL xref: BIRNLEX:1160 xref: BTO:0001355 xref: CALOHA:TS-1020 xref: DHBA:12139 xref: EFO:0000917 xref: EMAPA:18797 xref: EV:0100169 xref: FMA:61825 xref: GAID:635 xref: HBA:4132 xref: MAT:0000508 xref: MESH:D013702 xref: NCIT:C12353 xref: neuronames:125 {source="BIRNLEX:1160"} xref: SCTID:180921000 xref: UMLS:C0039485 {source="BIRNLEX:1160", source="ncithesaurus:Temporal_Lobe"} xref: UMLS:C1268978 {source="BIRNLEX:1160"} xref: Wikipedia:Temporal_lobe is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0001869 ! cerebral hemisphere property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/9/91/Gray730.png xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001872 name: parietal lobe namespace: uberon def: "Upper central part of the cerebral hemisphere. (MSH)." [BIRNLEX:1148] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "lobus parietalis" RELATED LATIN [Wikipedia:Parietal_lobe] synonym: "parietal region" BROAD [] synonym: "regio parietalis" EXACT LATIN [FMA:61826, FMA:TA] xref: BAMS:Parietal_lobe xref: BIRNLEX:1148 xref: BTO:0001001 xref: CALOHA:TS-0747 xref: DHBA:12131 xref: EFO:0000914 xref: EV:0100168 xref: FMA:61826 xref: GAID:680 xref: HBA:4084 xref: MAT:0000506 xref: MESH:D010296 xref: NCIT:C12354 xref: neuronames:95 {source="BIRNLEX:1148"} xref: SCTID:180922007 xref: UMLS:C0030560 {source="BIRNLEX:1148", source="ncithesaurus:Parietal_Lobe_of_the_Brain"} xref: Wikipedia:Parietal_lobe is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0001869 ! cerebral hemisphere property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/b/b2/Gray726_parietal_lobe.png xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001873 name: caudate nucleus namespace: uberon alt_id: UBERON:0010122 def: "Subcortical nucleus of telecephalic origin consisting of an elongated gray mass lying lateral to and bordering the lateral ventricle. It is divided into a head, body and tail in some species." [BIRNLEX:1373] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "Ammon horn fields" RELATED [BAMS:CA] synonym: "caudatum" RELATED [BTO:0000211] synonym: "caudatus" EXACT [] synonym: "nucleus caudatus" RELATED LATIN [BTO:0000211, Wikipedia:Caudate_nucleus] xref: BAMS:CA xref: BAMS:Cd xref: BIRNLEX:1373 xref: BM:Tel-CA xref: BTO:0000211 xref: CALOHA:TS-0121 xref: DHBA:10334 xref: DMBA:15855 xref: EFO:0000907 xref: EHDAA2:0004461 xref: EMAPA:18207 xref: EV:0100185 xref: FMA:61833 xref: GAID:670 xref: HBA:4278 xref: MA:0000894 xref: MAT:0000513 xref: MESH:D002421 xref: NCIT:C12451 xref: neuronames:226 {source="BIRNLEX:1373"} xref: PBA:10082 xref: SCTID:279297002 xref: UMLS:C0007461 {source="ncithesaurus:Caudate_Nucleus", source="BIRNLEX:1373"} xref: Wikipedia:Caudate_nucleus is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000369 ! corpus striatum relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001017 ! central nervous system relationship: part_of UBERON:0001893 ! telencephalon relationship: part_of UBERON:0005383 ! caudate-putamen property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/9/91/Telencephalon-Horiconatal.jpg xsd:anyURI property_value: external_definition "Nucleus of brain which is an elongated crescent-shaped mass lying parallel and adjacent to the lateral ventricle throughout its extent[FMA:61833]." xsd:string {source="FMA:61833"} [Term] id: UBERON:0001874 name: putamen namespace: uberon def: "Subcortical nucleus of telencephalic , which together with the caudate nucleus, forms the striatum. The putamen lies lateral to the internal capsule and medial to the external medullary lamina, and is separated from the caudate nucleus by the fibers of the internal capsule for most of its length, except at its anterior portion." [BIRNLEX:809] subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "nucleus putamen" EXACT [] xref: BAMS:PU xref: BAMS:Pu xref: BIRNLEX:809 xref: BM:Tel-Pu xref: CALOHA:TS-2041 xref: DHBA:10338 xref: DMBA:15857 xref: EMAPA:35719 xref: EV:0100187 xref: FMA:61834 xref: GAID:671 xref: HBA:4287 xref: MA:0000895 xref: MESH:D011699 xref: NCIT:C12452 xref: neuronames:230 {source="BIRNLEX:809"} xref: PBA:10086 xref: SCTID:281512002 xref: UMLS:C0034169 {source="ncithesaurus:Putamen"} xref: VHOG:0001456 xref: Wikipedia:Putamen is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001017 ! central nervous system relationship: part_of UBERON:0001869 ! cerebral hemisphere relationship: part_of UBERON:0001893 ! telencephalon relationship: part_of UBERON:0005383 ! caudate-putamen property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/3/33/BrainCaudatePutamen.svg xsd:anyURI property_value: external_definition "Nucleus of brain which lies ventral to the caudate nucleus and internal capsule and medial to the external capsule. The putamen and caudate nucleus together form the dorsal striatum. It is also one of the structures that comprises the basal ganglia. Through various pathways, the putamen is connected to the substantia nigra and globus pallidus. The main function of the putamen is to regulate movements and influence various types of learning. It employs dopamine to perform its functions. The putamen also plays a role in degenerative neurological disorders, such as Parkinson's disease[Wikipedia:Putamen]." xsd:string {source="Wikipedia:Putamen"} property_value: homology_notes "All nuclei of the mammalian basal ganglia are also present in the oldest vertebrates.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001456", ontology="VHOG", source="DOI:10.1016/j.cub.2011.05.001 Stephenson-Jones M, Samuelsson E, Ericsson J, Robertson B, Grillner S, Evolutionary conservation of the basal ganglia as a common vertebrate mechanism for action selection. Current Biology (2011)", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "check - rodents. The caudate nucleus and putamen are separated by a clear white matter bundle in most species but not in rodents (MM)" xsd:string property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001875 name: globus pallidus namespace: uberon def: "Subcortical nucleus, functionally part of the basal ganglia, which consists of two segments the external (or lateral) and internal (or medial) separated by the medial medullary lamina in primates. In rodents, The globus pallidus lateral is separated from the medial segment by the fibers of the internal capsule/cerebral peduncle." [BIRNLEX:1234] comment: BTO and MA are inconsistent w.r.t striatum and pallidum being non-overlapping as in ABA. Note that we have pallidum as part_of basal gangion, so we can make the direct link to basal ganglion. ISBN:1588900649 says: ... a derivative of the diencephalon, seperates as a result of growing fibers of theinternal capsule and is finally displaced into telencephalon. only a small medial remnannt remains, the entopeduncular nucleus. The globus pallidus should be regarded as part of the subthalamus subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "globus pallidus (Burdach)" RELATED [NeuroNames:231] synonym: "nucleus pallidus" RELATED LATIN [NeuroNames:231] synonym: "pale body" EXACT [BIRNLEX:1234] synonym: "paleostriatum" EXACT [Wikipedia:Globus_pallidus] synonym: "pallidium" RELATED [Wikipedia:Globus_pallidus] synonym: "pallidum" RELATED [BIRNLEX:1234, GO:0021759, Wikipedia:Globus_pallidus] xref: BAMS:GP xref: BIRNLEX:1234 xref: BTO:0002246 xref: CALOHA:TS-2013 xref: DHBA:10342 xref: EFO:0000905 xref: EMAPA:35380 xref: EV:0100188 xref: FMA:61835 xref: GAID:668 xref: HBA:4293 xref: MA:0000890 xref: MAT:0000510 xref: MESH:D005917 xref: NCIT:C12449 xref: neuronames:231 {source="BIRNLEX:1234"} xref: PBA:10097 xref: SCTID:362361005 xref: UMLS:C0017651 {source="BIRNLEX:1234", source="ncithesaurus:Globus_Pallidus"} xref: Wikipedia:Globus_pallidus is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001017 ! central nervous system relationship: part_of UBERON:0001869 ! cerebral hemisphere relationship: part_of UBERON:0001893 ! telencephalon relationship: part_of UBERON:0002420 ! basal ganglion property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/e/ee/Brain_structure.gif xsd:anyURI property_value: external_definition "Nucleus of brain which is located medially to the putamen and laterally to the internal capsule[FMA][FMA:61835]." xsd:string {source="FMA:61835"} property_value: has_relational_adjective "pallidal" xsd:string [Term] id: UBERON:0001876 name: amygdala namespace: uberon def: "Subcortical brain region lying anterior to the hippocampal formation in the temporal lobe and anterior to the temporal horn of the lateral ventricle in some species. It is usually subdivided into several groups. Functionally, it is not considered a unitary structure (MM)." [BIRNLEX:1241] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "amygdaloid area" RELATED [] synonym: "amygdaloid body" EXACT [] synonym: "amygdaloid complex" EXACT [BIRNLEX:1241] synonym: "amygdaloid nuclear complex" EXACT [] synonym: "amygdaloid nuclear group" RELATED [BTO:0001042] synonym: "amygdaloid nuclear groups" EXACT [] synonym: "amygdaloid nucleus" RELATED [FMA:61841] synonym: "archistriatum" EXACT [] synonym: "corpus amygdalae" RELATED LATIN [NeuroNames:237] synonym: "corpus amygdaloideum" RELATED LATIN [BTO:0001042, Wikipedia:Amygdala] synonym: "nucleus amygdalae" RELATED [BTO:0001042] xref: BAMS:Amg xref: BAMS:AMY xref: BAMS:Amy xref: BAMS:Amygdala xref: BAMS:Amygdaloid_complex xref: BIRNLEX:1241 xref: BM:Tel-Am xref: BTO:0001042 xref: CALOHA:TS-0037 xref: DHBA:10361 xref: EFO:0000252 xref: EMAPA:32672 xref: EMAPA:36051 xref: EV:0100189 xref: EV:0100190 xref: FMA:61841 xref: GAID:616 xref: HBA:4327 xref: MA:0000887 xref: MAT:0000289 xref: MESH:D000679 xref: MIAA:0000289 xref: NCIT:C12440 xref: neuronames:237 {source="BIRNLEX:1241"} xref: PBA:4002 xref: SCTID:279404004 xref: UMLS:C0002708 {source="BIRNLEX:1241", source="ncithesaurus:Amygdala"} xref: VHOG:0001277 xref: Wikipedia:Amygdala is_a: UBERON:0002420 ! basal ganglion relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001017 ! central nervous system relationship: part_of UBERON:0001869 ! cerebral hemisphere relationship: part_of UBERON:0001871 ! temporal lobe relationship: part_of UBERON:0001890 ! forebrain relationship: part_of UBERON:0001893 ! telencephalon property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/8/8b/Amyg.png xsd:anyURI property_value: external_definition "Subdivision of basal ganglion of telencephalon which is an almond-shaped gray mass in the dorsomedial part of the temporal lobe[FMA:61841]" xsd:string {source="FMA:61841"} property_value: has_relational_adjective "amygdalar" xsd:string property_value: homology_notes "One part of the striatum is called the archistriatum. (...) The archistriatum of fishes consists of several indistinctly segregated nuclei called the amygdaloid (...) complex. Tetrapods retain the structure, and in mammals the corresponding amygdala is a globular mass that tends to be ventral to the other basal nuclei.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001277", ontology="VHOG", source="ISBN:978-0471090588 Hildebrand M, Analysis of vertebrate structure (1983) p.342", source="http://bgee.unil.ch/"} property_value: UBPROP:0000012 "MA and FMA differ on relationship to basal ganglion. The FMA text def suggests a subdivision, but it is classified as a subtype" xsd:string {external_ontology="MA"} [Term] id: UBERON:0001880 name: bed nucleus of stria terminalis namespace: uberon def: "A brain structure in the forebrain wrapped around the stria terminalis. It's largest extent can be found around the crossing of the anterior commissure[INCF]." [INCF:Seattle_mtg_2010, Wikipedia:Stria_terminalis#Bed_nucleus_of_the_stria_terminalis] subset: efo_slim synonym: "bed nuclei of the stria terminalis" EXACT PLURAL [ABA:BST] synonym: "bed nuclei of the stria terminalis" RELATED [BAMS:BST] synonym: "bed nucleus of the stria terminalis" EXACT [BIRNLEX:724] synonym: "bed nucleus stria terminalis (Johnson)" EXACT [BIRNLEX:724] synonym: "bed nucleus striae terminalis" EXACT [XAO:0004541] synonym: "BST" BROAD ABBREVIATION [INCF:Seattle_mtg_2010] synonym: "intercalate nucleus of stria terminalis" EXACT [] synonym: "interstitial nucleus of stria terminalis" EXACT [BIRNLEX:724] synonym: "nuclei of stria terminalis" EXACT [] synonym: "nucleus interstitialis striae terminalis" RELATED LATIN [NeuroNames:267] synonym: "nucleus of stria terminalis" EXACT [FMA:61884] synonym: "nucleus of the stria terminalis" RELATED [NeuroNames:267] synonym: "nucleus proprius stria terminalis (bed nucleus)" RELATED [BAMS:BST] synonym: "nucleus striae terminalis" EXACT LATIN [FMA:61884, FMA:TA] synonym: "stria terminalis nucleus" EXACT [] xref: BAMS:Bed.n.term. xref: BAMS:BST xref: BAMS:bst xref: BAMS:ST xref: BAMS:stb xref: BAMS:StT xref: BIRNLEX:724 xref: BM:BNST xref: BTO:0002698 xref: DHBA:10384 xref: EFO:0001971 xref: EMAPA:35169 xref: FMA:61884 xref: HBA:4313 xref: MA:0000925 xref: MBA:351 xref: neuronames:267 {source="BIRNLEX:724"} xref: UMLS:C0228365 {source="BIRNLEX:724"} xref: Wikipedia:Stria_terminalis#Bed_nucleus_of_the_stria_terminalis xref: XAO:0004541 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001017 ! central nervous system relationship: part_of UBERON:0001893 ! telencephalon [Term] id: UBERON:0001882 name: nucleus accumbens namespace: uberon def: "A region of the brain consisting of a collection of neurons located in the forebrain ventral to the caudate and putamen. (caudoputamen in rodent) and continuous with these structures. There is no distinct boundary between the nucleus accumbens and the caudate/putamen, but in rodents, it can be identified by its lack of traversing fiber bundles in comparison to the dorsal striatum. Its principle neuron is the medium spiny neuron. Together with the neostriatum (caudate nucleus and putamen), the nucleus accumbens forms the striatum." [BIRNLEX:727] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "accumbens nucleus" EXACT [FMA:61889] synonym: "colliculus nuclei caudati" RELATED LATIN [NeuroNames:277] synonym: "colliculus of caudate nucleus" EXACT [FMA:61889] synonym: "nucleus accumbens septi" EXACT [FMA:61889, Wikipedia:Nucleus_accumbens] xref: BAMS:ACB xref: BAMS:Acb xref: BAMS:ACC xref: BIRNLEX:727 xref: BM:Ac xref: BTO:0001862 xref: DHBA:10339 xref: EFO:0000906 xref: EHDAA2:0004707 xref: EMAPA:32789 xref: FMA:61889 xref: GAID:672 xref: HBA:4290 xref: MA:0000892 xref: MAT:0000512 xref: MBA:56 xref: MESH:D009714 xref: NCIT:C52733 xref: neuronames:277 {source="BIRNLEX:727"} xref: PBA:10092 xref: SCTID:427667007 xref: UMLS:C0028633 {source="ncithesaurus:Accumbens_Nucleus"} xref: Wikipedia:Nucleus_accumbens is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001017 ! central nervous system relationship: part_of UBERON:0001869 ! cerebral hemisphere relationship: part_of UBERON:0001893 ! telencephalon relationship: part_of UBERON:0005403 ! ventral striatum property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/9/93/Circuit_du_syst%C3%A8me_de_recompense.jpg xsd:anyURI property_value: external_definition "a collection of pleomorphic cells in the caudal part of the anterior horn of the lateral ventricle, in the region of the olfactory tubercle, lying between the head of the caudate nucleus and the anterior perforated substance. It is part of the ventral striatum, a composite structure considered part of the basal ganglia[GO][GO:0021768]." xsd:string {source="GO:0021768"} property_value: RO:0002171 UBERON:0001883 {source="ABA"} property_value: RO:0002175 NCBITaxon:8782 {source="ISBN:0471888893"} property_value: taxon_notes "The ventral striatopallidal complex in birds corresponds closely to its counterpart in mammals, with a nucleus accumbes present in the rostral telenceaphalon. Note that in birds, a region previously called the nucleus accumbens is now recognized as the lateral part of the bed nucleus of stria terminalis.[ISBN:0471888893]" xsd:string [Term] id: UBERON:0001885 name: dentate gyrus of hippocampal formation namespace: uberon def: "Part of the hippocampal formation forming a 'V' or 'U' shaped structure with the opening bounded by hippocampal area CA3. It consists of 3 layers from superficial to deep: molecular, granule cell and polymorphic or hilar layer." [BIRNLEX:1178] comment: BTO says dentate gyrus = fascia dentata + hilus. Note that GO classifies dentate gyrus development under hippocampus development subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "area dentata" EXACT [] synonym: "dentate area" RELATED [DHBA:10295] synonym: "dentate area (dentate gyrus)" EXACT [DHBA:10295] synonym: "dentate gyrus" EXACT [] synonym: "fascia dentata" NARROW [] synonym: "gyrus dentatus" RELATED LATIN [BTO:0002496, Wikipedia:Dentate_gyrus] synonym: "hippocampal dentate gyrus" RELATED [BTO:0002496] xref: BAMS:DG xref: BIRNLEX:1178 xref: BM:Tel-DG xref: BTO:0002496 xref: BTO:0002615 xref: CALOHA:TS-2388 xref: DHBA:10295 xref: DMBA:16115 xref: EFO:0001366 xref: EMAPA:19037 xref: FMA:61922 xref: GAID:624 xref: HBA:12891 xref: MA:0000190 xref: MBA:726 xref: MESH:D018891 xref: NCIT:C32452 xref: neuronames:179 xref: SCTID:279211002 xref: UMLS:C0152314 {source="ncithesaurus:Dentate_Gyrus"} xref: Wikipedia:Dentate_gyrus is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0002421 ! hippocampal formation property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/a/ab/HippocampalRegions.jpg xsd:anyURI property_value: external_definition "The dentate gyrus is one of two interlocking gyri of the hippocampus. It contains granule cells, which project to the pyramidal cells and interneurons of the CA3 region of the ammon gyrus[GO][GO:0021542]." xsd:string {source="GO:0021542"} property_value: RO:0002171 UBERON:0001954 {source="ABA"} property_value: RO:0002171 UBERON:0002601 {source="ABA"} [Term] id: UBERON:0001886 name: choroid plexus namespace: uberon def: "A network formed by blood vessels and the tela choroidea which secretes CSF into the ventricular spaces." [ISBN:0471888893, Wikipedia:Choroid_plexus] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "chorioid plexus" EXACT [FMA:61934] synonym: "choroid plexus of cerebral hemisphere" RELATED [FMA:61934] synonym: "CP" BROAD ABBREVIATION [PMID:23375746] synonym: "plexus choroideus" EXACT LATIN [FMA:61934, FMA:TA] synonym: "plexus choroideus" RELATED LATIN [Wikipedia:Choroid_plexus] synonym: "ventricular choroid plexus" RELATED [] xref: BAMS:CHP xref: BAMS:chp xref: BAMS:chpl xref: BAMS:GHP xref: BTO:0000258 xref: CALOHA:TS-0145 xref: EFO:0001915 xref: EMAPA:32741 xref: FMA:61934 xref: GAID:607 xref: MA:0000823 xref: MBA:108 xref: MESH:D002831 xref: NCIT:C12694 xref: neuronames:1377 xref: SCTID:264450003 xref: TAO:0001443 xref: UMLS:C0008524 {source="ncithesaurus:Choroid_Plexus"} xref: VHOG:0001377 xref: Wikipedia:Choroid_plexus xref: ZFA:0001443 is_a: UBERON:0000061 ! anatomical structure is_a: UBERON:0002049 ! vasculature relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001009 ! circulatory system relationship: part_of UBERON:0001017 ! central nervous system relationship: part_of UBERON:0004086 ! brain ventricle property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/b/b9/Gray708.svg xsd:anyURI property_value: external_definition "A tuft of capillaries that project into the ventricles of the brain and secretes cerebral spinal fluid. The choroid plexus is covered by a cuboidal epithelium which maintains the integrity of the blood-brain barrier.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0001443", ontology="TAO", source="ZFIN:curator"} property_value: external_definition "Fringe of the tela choroidea of the brain ventricles[MP]" xsd:string {source="MP:0000820"} property_value: has_relational_adjective "choroidal" xsd:string property_value: IAO:0000116 "TODO - check relationship to ventricle. Check subclass - ZFA says vasculature. Note that FMA:61934 (choroid plexus of cerebral hemisphere) has exact synonym 'choroid plexus' but it is not clear that this belongs here, as the fourth ventricle is not in the cerebral hemisphere" xsd:string [Term] id: UBERON:0001890 name: forebrain namespace: uberon def: "The most anterior region of the brain including both the telencephalon and diencephalon." [Wikipedia:Forebrain, ZFIN:ZDB-PUB-961014-576] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "FB" BROAD ABBREVIATION [BIRNLEX:1509, NIFSTD:NeuroNames_abbrevSource] synonym: "prosencephalon" RELATED [] xref: AAO:0010147 xref: BAMS:FB xref: BAMS:Forebrain xref: BIRNLEX:1509 xref: BTO:0000478 xref: CALOHA:TS-0380 xref: DHBA:10156 xref: DMBA:15566 xref: EFO:0000909 xref: EHDAA2:0000556 xref: EHDAA:3470 xref: EMAPA:16895 xref: FMA:61992 xref: MA:0000170 xref: MAT:0000105 xref: MESH:D016548 xref: MIAA:0000105 xref: NCIT:C40185 xref: neuronames:27 {source="BIRNLEX:1509"} xref: SCTID:362291003 xref: TAO:0000109 xref: UMLS:C0085140 {source="ncithesaurus:Fore-Brain", source="BIRNLEX:1509"} xref: VHOG:0000383 xref: Wikipedia:Forebrain xref: XAO:0000011 xref: ZFA:0000109 is_a: UBERON:0000061 ! anatomical structure disjoint_from: UBERON:0002298 ! brainstem relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system property_value: axiom_lost_from_external_ontology "relationship loss: develops_from forebrain neural tube (TAO:0007041)[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000109", ontology="TAO"} property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/5/54/EmbryonicBrain.svg xsd:anyURI property_value: external_definition "Most anterior of the three regions of the brain consisting of the telencephalon and diencephalon.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010147", ontology="AAO", source="AAO:BJB"} property_value: external_definition "The most anterior region the brain including both the telencephalon and diencephalon. Kimmel et al, 1995.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000109", ontology="TAO", source="ZFIN:curator"} property_value: has_relational_adjective "prosencephalic" xsd:string property_value: homology_notes "In craniate embryos, neural expression of Distal-less-related genes is exclusively in the forebrain (...). Because the major neural expression domain of amphioxus AmphiDll is in the anterior three-fourths of the cerebral vesicle, we suggest that this region of the neural tube is homologous to parts of the craniate forebrain. This conclusion is strongly supported by three-dimensional, computer-assisted reconstruction of the neural tube of amphioxus based on serial transmission electron microscopy. At the neuroanatomical level, a number of detailed homologies are indicated between the anterior three-fourths of the amphioxus cerebral vesicle and the diencephalic region of the craniate forebrain. If one assumes that the amphioxus condition fairly represents the nervous system of the proximate ancestor of the craniates, one can suggest that they evolved from a creature that had the beginnings of a forebrain.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000383", ontology="VHOG", source="PMID:8787764 Holland ND, Panganiban G, Henyey EL, Holland LZ, Sequence and developmental expression of AmphiDll, an amphioxus Distal-less gene transcribed in the ectoderm, epidermis and nervous system: insights into evolution of craniate forebrain and neural crest. Development (1996)", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001891 name: midbrain namespace: uberon def: "The midbrain is the middle division of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes a ventral part containing the cerebral peduncles and a dorsal tectum containing the corpora quadrigemina and that surrounds the aqueduct of Sylvius connecting the third and fourth ventricles)[GO]." [GO:0030901] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "MB" BROAD ABBREVIATION [BIRNLEX:1667, NIFSTD:NeuroNames_abbrevSource] synonym: "mesencephalon" RELATED LATIN [Wikipedia:Midbrain] xref: AAO:0010149 xref: BAMS:MES xref: BIRNLEX:1667 xref: BM:MB xref: BTO:0000138 xref: CALOHA:TS-0630 xref: DHBA:10648 xref: DMBA:16649 xref: EFO:0000919 xref: EHDAA2:0001162 xref: EHDAA:3694 xref: EMAPA:16974 xref: EV:0100242 xref: FMA:61993 xref: HBA:9001 xref: MA:0000207 xref: MAT:0000106 xref: MBA:313 xref: MESH:D008636 xref: MIAA:0000106 xref: NCIT:C12510 xref: neuronames:462 {source="BIRNLEX:1667"} xref: RETIRED_EHDAA2:0001104 xref: SCTID:279099009 xref: TAO:0000128 xref: UMLS:C0025462 {source="BIRNLEX:1667", source="ncithesaurus:Mesencephalon"} xref: VHOG:0000069 xref: Wikipedia:Midbrain xref: XAO:0000014 xref: ZFA:0000128 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/f/f9/Human_brain_inferior_view_description.JPG xsd:anyURI property_value: external_definition "Middle part of the brain composed of the optic tectum and penducular region.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010149", ontology="AAO", source="AAO:BJB"} property_value: external_definition "The brain region between the forebrain anteriorly and the hindbrain posteriorly, including the tectum dorsally and the midbrain tegmentum ventrally. Kimmel et al, 1995.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000128", ontology="TAO", source="ZFIN:curator"} property_value: has_relational_adjective "mesencephalic" xsd:string property_value: homology_notes "Fine structural, computerized three-dimensional (3D) mapping of cell connectivity in the amphioxus nervous system and comparative molecular genetic studies of amphioxus and tunicates have provided recent insights into the phylogenetic origin of the vertebrate nervous system. The results suggest that several of the genetic mechanisms for establishing and patterning the vertebrate nervous system already operated in the ancestral chordate and that the nerve cord of the proximate invertebrate ancestor of the vertebrates included a diencephalon, midbrain, hindbrain, and spinal cord.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000069", ontology="VHOG", source="DOI:10.1016/S0959-4388(99)00003-3 Holland LZ and Holland ND, Chordate origins of the vertebrate central nervous system. Current Opinion in Neurobiology (1999)", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "developmental relationships need revised" xsd:string property_value: RO:0002171 UBERON:0001894 {exceptions="ZFA", exceptions_url="https://github.com/obophenotype/uberon/issues/378", source="ABA", status="pending"} property_value: RO:0002171 UBERON:0002028 {exceptions="ZFA", source="ABA", status="pending"} property_value: RO:0002175 NCBITaxon:9606 property_value: UBPROP:0000012 "part of brainstem in ABA - we reject this in favor of ISBN:0471888893 which has an implicit overlaps relationships" xsd:string {external_ontology="ABA"} [Term] id: UBERON:0001892 name: rhombomere namespace: uberon def: "A segment of the developing hindbrain[ZFA]. In the vertebrate embryo, a rhombomere is a transiently divided segment of the developing neural tube, within the hindbrain region (a neuromere) in the area that will eventually become the rhombencephalon. The rhombomeres appear as a series of slightly constricted swellings in the neural tube, caudal to the cephalic flexure.[WP]." [Wikipedia:Rhombomere, ZFIN:curator] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "future rhombencephalon" RELATED [MIAA:0000272] synonym: "hindbrain neuromere" EXACT [] synonym: "hindbrain neuromeres" EXACT PLURAL [DHBA:HNM] synonym: "hindbrain segment" BROAD [ZFA:0001064] synonym: "rhombomere" EXACT [] synonym: "rhombomeres" RELATED PLURAL [VHOG:0000672] synonym: "segment of hindbrain" BROAD [ZFA:0001064] xref: DHBA:12664 xref: EFO:0003617 xref: EMAPA:16148 xref: FMA:295666 xref: MAT:0000272 xref: MIAA:0000272 xref: RETIRED_EHDAA2:0000669 xref: TAO:0001064 xref: VHOG:0000672 xref: Wikipedia:Rhombomere xref: XAO:0004079 xref: ZFA:0001064 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0007277 ! presumptive hindbrain property_value: external_definition "A segment of the developing hindbrain. Kimmel et al, 1995.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0001064", ontology="TAO", source="ZFIN:curator"} property_value: homology_notes "Rhombomeric segmentation is found in all living vertebrates and is of fundamental importance to the development of the vertebrate head.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000672", ontology="VHOG", source="DOI:10.1006/dbio.2002.0831 Mazet F, Shimeld SM, The Evolution of Chordate Neural Segmentation. Developmental Biology (2002)", source="http://bgee.unil.ch/"} property_value: taxon_notes "In human embryonic development, the rhombomeres are present by day 29" xsd:string property_value: UBPROP:0000012 "DHBA divides this into A(1-3),B(4),C(5-7) and D(8)" xsd:string [Term] id: UBERON:0001893 name: telencephalon namespace: uberon def: "Part of the forebrain consisting of paired olfactory bulbs and cerebral hemispheres." [AAO:0010479, XAO:0000012] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "cerebrum" EXACT [BTO:0000239, EMAPA:16910, FMA:62000, https://github.com/obophenotype/uberon/issues/1208, Wikipedia:Talk\:Cerebrum/Archive_1] synonym: "endbrain" EXACT [neuronames:31, Swanson:2004] synonym: "supratentorial region" BROAD [Wikipedia:Tentorium_cerebelli] xref: AAO:0010479 xref: BAMS:CB xref: BAMS:CH xref: BAMS:IV xref: BAMS:Tel xref: BIRNLEX:1115 xref: BM:Tel xref: BTO:0000239 xref: CALOHA:TS-1018 xref: DHBA:10158 xref: EFO:0000912 xref: EHDAA2:0001982 xref: EMAPA:16910 xref: EV:0100165 xref: FMA:62000 xref: GAID:621 xref: HBA:4007 xref: MA:0000183 xref: MAT:0000421 xref: MBA:567 xref: MESH:D013687 xref: MIAA:0000421 xref: neuronames:31 {source="BIRNLEX:1115"} xref: PBA:128011350 xref: SCTID:263353005 xref: TAO:0000079 xref: UMLS:C0039452 {source="BIRNLEX:1115"} xref: VHOG:0000283 xref: Wikipedia:Telencephalon xref: XAO:0000012 xref: ZFA:0000079 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0001890 ! forebrain property_value: axiom_lost_from_external_ontology "relationship loss: develops_from presumptive telencephalon (TAO:0000571)[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000079", ontology="TAO"} property_value: external_definition "Organ component of neuraxis that has as its parts the cerebral cortex, cerebral white matter, basal ganglia, septum and fornix, as well as subcortical gray and white matter structures[FMA:62000]." xsd:string {source="FMA:62000"} property_value: external_definition "Part of the forebrain consisting of paired olfactory bulbs and cerebral hemispheres.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010479", ontology="AAO", source="AAO:BJB"} property_value: external_definition "The anterior and dorsal forebrain neuromere, includes the olfactory bulb. Kimmel et al, 1995.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000079", ontology="TAO", source="ZFIN:curator"} property_value: has_relational_adjective "cerebral" xsd:string property_value: has_relational_adjective "telencephalic" xsd:string property_value: has_relational_adjective "telenencephalic" xsd:string property_value: homology_notes "From an evolutionary standpoint, the telencephalon is the most recent brain structure: the amphioxus does not have this structure as a morphological entity. Overt telencephalon is present in the hagfish and lamprey to receive numerous input fibers from various parts of the CNS, similar to gnathostomes.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000283", ontology="VHOG", source="DOI:10.1016/j.ydbio.2005.02.008 Murakami Y, Uchida K, Rijli FM and Kuratani S, Evolution of the brain developmental plan: Insights from agnathans. Developmental Biology (2005)", source="http://bgee.unil.ch/"} property_value: RO:0002171 UBERON:0002037 {source="ABA"} property_value: taxon_notes "dolphins are the only species (other than humans) to have cerebra accounting for as much as 2 percent of their body weight." xsd:string {source="Wikipedia:Telencephalon#Variation_among_species"} property_value: taxon_notes "In mammals the cortex covers almost the whole of the cerebral hemispheres." xsd:string {source="Wikipedia:Telencephalon#Variation_among_species"} property_value: taxon_notes "In ray-finned fishes and most pronounced in teleosts the roof plate of the embryonic telencephalon extends laterally with the effect that the paired alar plates forming the hemispheric walls roll out lateroventrally in a process called eversion. This is unlike the development in other vertebrate groups. [ZFA:0000079, ISBN:3764351209]" xsd:string property_value: taxon_notes "In ray-finned fishes the inner surfaces of the lateral and ventral regions of the cerebrum bulge up into the ventricles." xsd:string {source="Wikipedia:Telencephalon#Variation_among_species"} property_value: taxon_notes "In the amniotes, the cerebrum becomes increasingly large and complex. In reptiles, the paleopallium is much larger than in amphibians, and its growth has pushed the basal nuclei into the central regions of the cerebrum." xsd:string {source="Wikipedia:Telencephalon#Variation_among_species"} property_value: taxon_notes "In the most primitive living vertebrates, the hagfishes and lampreys, the cerebrum is a relatively simple structure receiving nerve impulses from the olfactory bulb." xsd:string {source="Wikipedia:Telencephalon#Variation_among_species"} property_value: taxon_notes "The cerebrum of birds has evolved along different lines to that of mammals, although they are similarly enlarged, by comparison with reptiles. However, this enlargement is largely due to the basal ganglia, with the other areas remaining relatively primitive in structure." xsd:string {source="Wikipedia:Telencephalon#Variation_among_species"} [Term] id: UBERON:0001894 name: diencephalon namespace: uberon def: "The division of the forebrain that develops from the foremost primary cerebral vesicle." [Wikipedia:Diencephalon] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "between brain" EXACT [] synonym: "betweenbrain" RELATED [BTO:0000342] synonym: "DiE" BROAD ABBREVIATION [BIRNLEX:1503, NIFSTD:NeuroNames_abbrevSource] synonym: "diencephalon" RELATED LATIN [Wikipedia:Diencephalon] synonym: "interbrain" EXACT [Swanson:2004] synonym: "mature diencephalon" EXACT [FMA:62001] synonym: "thalamencephalon" EXACT [MGI:anna] xref: AAO:0010481 xref: BAMS:DI xref: BAMS:Di xref: BAMS:DiE xref: BAMS:IB xref: BAMS:Zh. xref: BIRNLEX:1503 xref: BM:Die xref: BTO:0000342 xref: CALOHA:TS-0199 xref: DHBA:10389 xref: DMBA:16308 xref: EFO:0000911 xref: EHDAA2:0000385 xref: EHDAA:1969 xref: EHDAA:2645 xref: EHDAA:3472 xref: EMAPA:16896 xref: EV:0100194 xref: FMA:62001 xref: GAID:618 xref: HBA:4391 xref: MA:0000171 xref: MAT:0000420 xref: MBA:1129 xref: MESH:D004027 xref: MIAA:0000420 xref: NCIT:C12456 xref: neuronames:288 {source="BIRNLEX:1503"} xref: PBA:128013010 xref: SCTID:279328001 xref: TAO:0000101 xref: UMLS:C0012144 {source="ncithesaurus:Diencephalon", source="BIRNLEX:1503"} xref: VHOG:0000318 xref: Wikipedia:Diencephalon xref: XAO:0000013 xref: ZFA:0000101 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0001890 ! forebrain property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/5/54/EmbryonicBrain.svg xsd:anyURI property_value: external_definition "The more posterior and ventral of two forebrain neuromeres, the other being the telencephalon; major derivatives are the eye cups, the brain pretectal region, the thalamus, hypothalamus, and epithalamus (including the habenula and epiphysis). Kimmel et al, 1995.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000101", ontology="TAO", source="ZFIN:curator"} property_value: external_definition "Unpaired part of the forebrain comprised of three major parts; the epithalamus, thalamus, and hypothalamus.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010481", ontology="AAO", source="AAO:BJB"} property_value: has_relational_adjective "diencephalic" xsd:string property_value: homology_notes "Fine structural, computerized three-dimensional (3D) mapping of cell connectivity in the amphioxus nervous system and comparative molecular genetic studies of amphioxus and tunicates have provided recent insights into the phylogenetic origin of the vertebrate nervous system. The results suggest that several of the genetic mechanisms for establishing and patterning the vertebrate nervous system already operated in the ancestral chordate and that the nerve cord of the proximate invertebrate ancestor of the vertebrates included a diencephalon, midbrain, hindbrain, and spinal cord.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000318", ontology="VHOG", source="DOI:10.1016/S0959-4388(99)00003-3 Holland LZ and Holland ND, Chordate origins of the vertebrate central nervous system. Current Opinion in Neurobiology (1999)", source="http://bgee.unil.ch/"} property_value: RO:0002171 UBERON:0001891 {exceptions="ZFA", source="ABA", source="https://github.com/obophenotype/uberon/issues/378", status="pending"} property_value: RO:0002171 UBERON:0002028 {source="ABA"} property_value: RO:0002175 NCBITaxon:7762 {notes="not well differentiated from the cerebrum. (Ariens, p. 868)", source="PMID:8932866"} property_value: UBPROP:0000012 "in ABA, this is part of the brain stem" xsd:string {external_ontology="ABA"} [Term] id: UBERON:0001896 name: medulla oblongata namespace: uberon def: "Organ component of neuraxis that has as its parts the medullary reticular formation, inferior olivary complex and cochlear nuclear complex, among other structures[FMA]. The medulla oblongata lies directly above the spinal cord and controls vital autonomic functions such as digestion, breathing and the control of heart rate[GO]." [FMA:62004, GO:0021550, Wikipedia:Bone_marrow_of_ovary_oblongata] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "bulb" BROAD [] synonym: "bulbus" EXACT LATIN [FMA:62004, FMA:TA] synonym: "medulla" BROAD [ABA:MY] synonym: "medulla oblonzata" RELATED LATIN [Wikipedia:Medulla_oblongata] synonym: "metepencephalon" RELATED [FMA:62004] xref: AAO:0010486 xref: BAMS:Md xref: BAMS:MY xref: BIRNLEX:957 xref: BM:Me xref: BTO:0000041 xref: CALOHA:TS-0607 xref: DMBA:17352 xref: EFO:0000924 xref: EHDAA2:0001088 xref: EHDAA:7588 xref: EMAPA:17550 xref: EV:0100275 xref: FMA:62004 xref: GAID:590 xref: MA:0000206 xref: MAT:0000111 xref: MAT:0000367 xref: MBA:354 xref: MESH:D008526 xref: MIAA:0000111 xref: NCIT:C12442 xref: neuronames:698 {source="BIRNLEX:957"} xref: SCTID:279104005 xref: TAO:0000545 xref: UMLS:C0025148 {source="ncithesaurus:Medulla_Oblongata", source="BIRNLEX:957"} xref: UMLS:C1269575 {source="BIRNLEX:957"} xref: VHOG:0000181 xref: Wikipedia:Bone_marrow_of_ovary_oblongata xref: XAO:0003100 xref: ZFA:0000545 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0002028 ! hindbrain relationship: part_of UBERON:0002298 ! brainstem property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/6/6b/Illu_pituitary_pineal_glands.jpg xsd:anyURI property_value: external_definition "Posterior portion of the hindbrain which controls respiration, heartbeat, digestion, and swallowing as well as some locomotor responses.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010486", ontology="AAO", source="AAO:BJB"} property_value: external_definition "The posterior region of the brain that is continuous with the spinal cord. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-17, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000181", ontology="VHOG", source="http://bgee.unil.ch/"} property_value: homology_notes "Classical anatomical studies subdivided the vertebrate rhombencephalon into pons and medulla oblongata. (...) The medulla oblongata appears therefore as a tagma, that is, a group of segmental units (pseudorhombomeres, in this case) sharing some morphological and molecular characteristics, and in some aspects different from the segmental units present in adjoining brain regions, pons and spinal cord.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000181", ontology="VHOG", source="DOI:10.1016/j.ydbio.2008.08.017 Marin F, Aroca P, Puelles L, Hox gene colinear expression in the avian medulla oblongata is correlated with pseudorhombomeric domains. Developmental Biology (2008)", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001897 name: dorsal plus ventral thalamus namespace: uberon def: "Subcortical brain region consisting of paired gray matter bodies in the dorsal diencephalon and forming part of the lateral wall of the third ventricle of the brain. The thalamus represents the major portion of the diencephalon and is commonly divided into cellular aggregates known as nuclear groups.(MeSH). The dorsal topographic division of the interbrain. The macrodissected adult human thalamus was clearly illustrated by Vesalius in 1543 and the term as defined here was introduced by His in 1893. It includes the traditional epithalamus, dorsal thalamus, and ventral thalamus of Herrick (1910, pp. 494, 498). Also see Kuhlenbeck (1927, Ch. 9) and Jones (1985, p. 87)." [BIRNLEX:954] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "Th" BROAD ABBREVIATION [BIRNLEX:954, NIFSTD:NeuroNames_abbrevSource, PMID:23375746] synonym: "thalamencephalon" RELATED LATIN [NeuroNames:300] synonym: "thalami" RELATED PLURAL [VHOG:0000657] synonym: "thalamus" BROAD [FMA:62007, MA:0000179] synonym: "thalamus opticus" RELATED LATIN [NeuroNames:300] synonym: "wider thalamus" EXACT [PMCID:PMC3345571] xref: AAO:0010483 xref: BAMS:TH xref: BAMS:Th xref: BIRNLEX:954 xref: BTO:0001365 xref: CALOHA:TS-1031 xref: DHBA:10390 xref: DMBA:16376 xref: EFO:0000910 xref: EMAPA:17540 xref: EV:0100195 xref: GAID:656 xref: galen:Thalamus xref: HBA:4392 xref: MA:0000179 xref: MAT:0000109 xref: MBA:549 xref: MIAA:0000109 xref: NCIT:C12459 xref: neuronames:300 {source="BIRNLEX:954"} xref: PBA:128013014 xref: SCTID:244433007 xref: TAO:0001215 xref: UMLS:C0039729 {source="BIRNLEX:954", source="ncithesaurus:Thalamus"} xref: VHOG:0000657 xref: Wikipedia:Thalamus xref: ZFA:0001215 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/c/ce/Brain_chrischan_thalamus.jpg xsd:anyURI property_value: external_definition "One of a pair of large oval nervous structures made of gray matter and forming most of the lateral walls of the third ventricle of the brain and part of the diencephalon. [TFD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000657", ontology="VHOG", source="http://bgee.unil.ch/", source="http://medical-dictionary.thefreedictionary.com/thalamus"} property_value: external_definition "Part of the diencephalon consisting of a mass of connecting fibers which relay sensory information to the cerebral cortex.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010483", ontology="AAO", source="AAO:BJB"} property_value: has_relational_adjective "thalamic" xsd:string property_value: homology_notes "(...) the brain regions of tetrapods, the structures they contain, and their basic organizational features are the same as in fishes.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000657", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.484", source="http://bgee.unil.ch/"} property_value: RO:0002171 UBERON:0001898 {source="ABA"} [Term] id: UBERON:0001898 name: hypothalamus namespace: uberon def: "A specialized brain region of the ventral diencephalon arising near the end of the segmentation period; the embryonic hypothalamic region will give rise to the posterior pituitary gland as well as a number of brain nuclei. [ZFA]. One of the most important functions of the hypothalamus is to link the nervous system to the endocrine system via the pituitary gland (hypophysis).[Wikipedia]." [Wikipedia:Hypothalamus, ZFIN:curator] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "Hy" BROAD ABBREVIATION [BIRNLEX:734, NIFSTD:NeuroNames_abbrevSource] synonym: "hypothalamus" RELATED LATIN [Wikipedia:Hypothalamus] synonym: "preoptico-hypothalamic area" EXACT [] synonym: "preoptico-hypothalamic region" EXACT [] xref: AAO:0010484 xref: BAMS:HY xref: BAMS:Hy xref: BIRNLEX:734 xref: BM:Die-Hy xref: BTO:0000614 xref: CALOHA:TS-0469 xref: DHBA:10467 xref: EFO:0000107 xref: EHDAA2:0000802 xref: EHDAA:5446 xref: EMAPA:17536 xref: EV:0100225 xref: FMA:62008 xref: GAID:460 xref: galen:Hypothalamus xref: HBA:4540 xref: MA:0000173 xref: MAT:0000112 xref: MBA:1097 xref: MESH:D007031 xref: MIAA:0000112 xref: NCIT:C12458 xref: neuronames:292 {source="BIRNLEX:734"} xref: SCTID:264483005 xref: TAO:0000032 xref: UMLS:C0020663 {source="BIRNLEX:734", source="ncithesaurus:Hypothalamus"} xref: VHOG:0000179 xref: Wikipedia:Hypothalamus xref: XAO:0004070 xref: ZFA:0000032 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system relationship: RO:0002174 NCBITaxon:7737 {notes="Lancelets possess a region similar to the hypothalamus (Murakami, 2005)"} ! dubious_for_taxon property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/9/9f/LocationOfHypothalamus.jpg xsd:anyURI property_value: external_definition "A specialized brain region of the ventral diencephalon arising near the end of the segmentation period; the embryonic hypothalamic region will give rise to the posterior pituitary gland as well as a number of brain nuclei. Kimmel et al, 1995.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000032", ontology="TAO", source="ZFIN:curator"} property_value: external_definition "Part of the diencephalon ventral to the thalamus consisting of connecting fibers and is a center for control of the autonomous nervous system.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010484", ontology="AAO", source="AAO:BJB"} property_value: has_relational_adjective "hypothalamic" xsd:string property_value: homology_notes "For instance, the vertebrate ventral diencephalon generates the hypothalamus which functions as a major endocrine center in cooperation with the hypophysis, the anterior part of the pituitary gland, located just ventral to the hypothalamus. In the amphioxus brain, the presence of a hypothalamus-like structure has been reported associated with the ventrally located Hatschek's pit, the hypothetical hypophysial homologue. It is thus conceivable that a hypothalamus-like structure originally involved in endocrine functions may have already been present before the establishment of vertebrates.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000179", ontology="VHOG", source="DOI:10.1016/j.ydbio.2005.02.008 Murakami Y, Uchida K, Rijli FM and Kuratani S, Evolution of the brain developmental plan: Insights from agnathans. Developmental Biology (2005)", source="http://bgee.unil.ch/"} property_value: RO:0002171 UBERON:0001897 {source="ABA"} property_value: RO:0002175 NCBITaxon:117569 {source="Ariens, p. 1192"} property_value: RO:0002175 NCBITaxon:7742 property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "all vertebrates contain a hypothalamus" xsd:string {source="WP"} [Term] id: UBERON:0001899 name: epithalamus namespace: uberon def: "Most dorsal part of the thalamus, comprising the pineal gland and habenular nuclei in most vertebrates. In a few vertebrates, it also includes the parietal eye. (Butler and Hodos, Comparative Vertebrate Neuroanatomy, 2nd ed, 2005, pg. 345-346." [BIRNLEX:1710] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "epithalamus" RELATED LATIN [Wikipedia:Epithalamus] synonym: "ETh" BROAD ABBREVIATION [BIRNLEX:1710, NIFSTD:NeuroNames_abbrevSource] xref: AAO:0010482 xref: BAMS:EPI xref: BAMS:Epi xref: BAMS:EpT xref: BAMS:ETh xref: BIRNLEX:1710 xref: BM:Die-Epi xref: BTO:0000175 xref: CALOHA:TS-2060 xref: DHBA:10451 xref: EFO:0000918 xref: EHDAA2:0000448 xref: EHDAA:5433 xref: EMAPA:17532 xref: EV:0100220 xref: FMA:62009 xref: GAID:455 xref: HBA:4520 xref: MA:0000172 xref: MAT:0000422 xref: MBA:958 xref: MESH:D019261 xref: MIAA:0000422 xref: NCIT:C12457 xref: neuronames:292 {source="BIRNLEX:1710"} xref: PBA:128013147 xref: SCTID:281487003 xref: TAO:0000509 xref: UMLS:C0152361 {source="BIRNLEX:1710", source="ncithesaurus:Epithalamus"} xref: VHOG:0000178 xref: Wikipedia:Epithalamus xref: ZFA:0000509 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0001897 ! dorsal plus ventral thalamus property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/c/cb/Epithalamus.png xsd:anyURI property_value: external_definition "Dorsal segment of the diencephalon containing the habenular ganglia, a choroid plexus, and the pineal organ.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010482", ontology="AAO", source="AAO:BJB"} property_value: external_definition "The roof of the diencephalon lying above the thalamus. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-11, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000178", ontology="VHOG", source="http://bgee.unil.ch/"} property_value: has_relational_adjective "epithalamic" xsd:string property_value: homology_notes "The epithalamus has been historically conceived as a distinct neuroanatomical moiety within the diencephalon of all vertebrates. (...) The evolutionary origins of epithalamic structures are uncertain but asymmetry in this region is likely to have existed at the origin of the vertebrate, perhaps even the chordate, lineage.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000178", ontology="VHOG", source="DOI:10.1046/j.1469-7580.2001.19910063.x Concha ML and Wilson SW, Asymmetry in the epithalamus of vertebrates. J Anat (2001)", source="http://bgee.unil.ch/"} property_value: RO:0002171 UBERON:0001903 {source="ABA"} property_value: RO:0002171 UBERON:0002733 {source="ABA"} property_value: RO:0002171 UBERON:0002736 {source="ABA"} property_value: RO:0002175 NCBITaxon:7742 property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001902 name: epithelium of small intestine namespace: uberon def: "An epithelium that is part of a small intestine [Automatically generated definition]." [OBOL:automatic] subset: vertebrate_core synonym: "epithelial tissue of small bowel" EXACT [OBOL:automatic] synonym: "epithelial tissue of small intestine" EXACT [OBOL:automatic] synonym: "epithelium of small bowel" EXACT [OBOL:automatic] synonym: "mid intestine epithelium" EXACT [ZFA:0005127] synonym: "small bowel epithelial tissue" EXACT [OBOL:automatic] synonym: "small bowel epithelium" EXACT [OBOL:automatic] synonym: "small intestinal epithelium" EXACT [] synonym: "small intestine epithelial tissue" EXACT [OBOL:automatic] synonym: "small intestine epithelium" EXACT [] xref: BTO:0001258 xref: CALOHA:TS-2104 xref: EMAPA:35778 xref: FMA:62017 xref: MA:0001553 xref: SCTID:45480009 xref: TAO:0005127 xref: ZFA:0005127 is_a: UBERON:0001277 ! intestinal epithelium intersection_of: UBERON:0000483 ! epithelium intersection_of: part_of UBERON:0002108 ! small intestine relationship: part_of UBERON:0002108 ! small intestine property_value: external_definition "Intestinal epithelium which lines the lumen of the mid intestine.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0005127", ontology="TAO", source="ZFIN:curator"} [Term] id: UBERON:0001905 name: pineal body namespace: uberon def: "A midline, cone like structure located in the dorso-caudal roof of the 3rd ventricle, attached by peduncles to the habenular and posterior commissures. The stalk contains nerve fibers, blood vessels, connective tissue and parenchymal cells (Paxinos, The Rat Central Nervous System, 2nd ed, pg 399)." [BIRNLEX:1184] subset: efo_slim subset: human_reference_atlas subset: organ_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "conarium" RELATED [BIRNLEX:1184] synonym: "corpus pineale" EXACT [] synonym: "epiphysis" RELATED INCONSISTENT [ZFA:0000019] synonym: "epiphysis cerebri" RELATED [Wikipedia:Epiphysis_cerebri] synonym: "frontal organ" RELATED [VHOG:0000051] synonym: "glandula pinealis" EXACT LATIN [FMA:62033, FMA:TA] synonym: "Pi" BROAD ABBREVIATION [BIRNLEX:1184, NIFSTD:NeuroNames_abbrevSource] synonym: "pineal" RELATED [VHOG:0000051] synonym: "pineal gland" EXACT [FMA:62033] synonym: "pineal gland (Galen)" RELATED [NeuroNames:297] synonym: "pineal organ" EXACT [ZFA:0000019] synonym: "stirnorgan" RELATED [VHOG:0000051] xref: AAO:0010549 xref: BAMS:Pi xref: BAMS:PIN xref: BIRNLEX:1184 xref: BM:P xref: BTO:0001067 xref: CALOHA:TS-0789 xref: DHBA:10460 xref: EFO:0000865 xref: EHDAA2:0001466 xref: EHDAA:7523 xref: EMAPA:18778 xref: EV:0100131 xref: EV:0100221 xref: FMA:62033 xref: GAID:453 xref: galen:PinealGland xref: HBA:4532 xref: MA:0000175 xref: MAT:0000448 xref: MBA:953 xref: MESH:D010870 xref: NCIT:C12398 xref: neuronames:297 {source="BIRNLEX:1184"} xref: NLXANAT:1010009 xref: SCTID:181126002 xref: TAO:0000019 xref: UMLS:C0031939 {source="ncithesaurus:Pineal_Gland", source="BIRNLEX:1184"} xref: VHOG:0000051 xref: Wikipedia:Pineal_gland xref: XAO:0000160 xref: ZFA:0000019 is_a: UBERON:0002368 ! endocrine gland relationship: part_of UBERON:0000949 ! endocrine system relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0001894 ! diencephalon relationship: part_of UBERON:0015238 ! pineal complex property_value: axiom_lost_from_external_ontology "relationship loss: part_of pineal complex (TAO:0001359)[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000019", ontology="TAO"} property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/6/6b/Illu_pituitary_pineal_glands.jpg xsd:anyURI property_value: external_definition "A circumscribed swelling, includes the pineal primordium that appears late in the segmentation period in the dorsal midline of the diencephalon. Kimmel et al, 1995.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000019", ontology="TAO", source="ZFIN:curator"} property_value: external_definition "Anatomical structure which is a medial outgrowth of the thalamus on the dorsal surface of the brain. This structure is light sensitive and secretes melatonin when exposed to prolonged darkness.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010549", ontology="AAO", source="AAO:BJB"} property_value: has_relational_adjective "epiphyseal" xsd:string property_value: has_relational_adjective "epiphysial" xsd:string property_value: homology_notes "The pineal gland has evolved from a part of the epiphyseal complex of anamniotes, which includes a median light-receptive pineal eye, parietal eye, or both.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000051", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.516", source="http://bgee.unil.ch/"} property_value: RO:0002171 UBERON:0001941 {source="ABA"} property_value: RO:0002171 UBERON:0001942 {source="ABA"} property_value: RO:0002175 NCBITaxon:117569 {source="Hardisty, p. 310"} property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "lobulated in humans, homogeneous in mouse. Calcifies with age in humans." xsd:string [Term] id: UBERON:0001906 name: subthalamic nucleus namespace: uberon def: "The subthalamic nucleus is the lens-shaped nucleus located in the ventral part of the subthalamus on the inner aspect of the internal capsule that is concerned with the integration of somatic motor function[GO]." [GO:0021763] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "body of Forel" EXACT [] synonym: "body of Luys" EXACT [] synonym: "corpus Luysi" RELATED [Wikipedia:Subthalamic_nucleus] synonym: "corpus subthalamicum" RELATED LATIN [Wikipedia:Subthalamic_nucleus] synonym: "Luy's body" RELATED [Wikipedia:Subthalamic_nucleus] synonym: "Luys' body" RELATED [BTO:0002252] synonym: "Luys' nucleus" EXACT [] synonym: "nucleus of corpus luysii" EXACT [] synonym: "nucleus of Luys" EXACT [Wikipedia:Subthalamic_nucleus] synonym: "nucleus subthalamicus" EXACT LATIN [BTO:0002252, Wikipedia:Subthalamic_nucleus] synonym: "subthalamic nucleus (of Luys)" EXACT [] synonym: "subthalamic nucleus of Luys" RELATED [Wikipedia:Subthalamic_nucleus] xref: BAMS:STh xref: BAMS:STN xref: BAMS:SUB xref: BM:Die-Sb xref: BTO:0002252 xref: CALOHA:TS-1154 xref: DHBA:10466 xref: EFO:0001392 xref: EMAPA:35839 xref: EV:0100224 xref: FMA:62035 xref: GAID:655 xref: HBA:4518 xref: MA:0000877 xref: MBA:470 xref: MESH:D020531 xref: NCIT:C12454 xref: neuronames:435 xref: NLXANAT:1010002 xref: SCTID:361575000 xref: UMLS:C0152355 {source="ncithesaurus:Subthalamic_Nucleus"} xref: Wikipedia:Subthalamic_nucleus is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001017 ! central nervous system relationship: part_of UBERON:0001894 ! diencephalon relationship: part_of UBERON:0001897 ! dorsal plus ventral thalamus property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/3/33/Basal-ganglia-coronal-sections-large.png xsd:anyURI property_value: external_definition "Lens shaped nucleus lying in the subthalamu[NLXANAT:1010002]s" xsd:string {source="NLXANAT:1010002"} property_value: RO:0002171 UBERON:0001907 {source="ABA"} property_value: RO:0002171 UBERON:0001931 {source="ABA"} property_value: RO:0002171 UBERON:0001933 {source="ABA"} property_value: RO:0002171 UBERON:0002430 {source="ABA"} [Term] id: UBERON:0001911 name: mammary gland namespace: uberon def: "A specialized accessory gland of the skin of mammals that secretes milk. The gland is typically only developed in females, and regresses in males." [BTO:0000817, http://orcid.org/0000-0002-6601-2165, Wikipedia:Mammary_gland] subset: efo_slim subset: organ_slim subset: pheno_slim subset: uberon_slim synonym: "Brustdruese" RELATED [BTO:0000817] synonym: "dug" RELATED [Wikipedia:Mammary_gland] synonym: "glandula mammaria" EXACT LATIN [FMA:57983, FMA:TA] synonym: "glandula mammaria" RELATED LATIN [Wikipedia:Mammary_gland] synonym: "lactiferous gland" EXACT [FMA:62088] synonym: "lobe of breast" NARROW [] synonym: "lobe of mammary gland" RELATED [FMA:62088] synonym: "mamma" RELATED [BTO:0000817] synonym: "mammae" RELATED PLURAL [] synonym: "milk patch" NARROW [NCBITaxon:9255] xref: BTO:0000817 xref: CALOHA:TS-0595 xref: EFO:0000854 xref: EMAPA:17759 xref: EV:0100125 xref: FMA:286452 xref: MA:0000145 xref: MAT:0000073 xref: MESH:D008321 xref: MIAA:0000073 xref: NCIT:C12367 xref: SCTID:361720005 xref: UMLS:C0929301 {source="ncithesaurus:Mammary_Gland"} xref: VHOG:0000398 xref: Wikipedia:Mammary_gland is_a: UBERON:0002530 ! gland relationship: part_of UBERON:0002416 ! integumental system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/6/64/Illu_breast_anatomy.jpg xsd:anyURI property_value: external_definition "Any of the milk-producing apocrine glands typically occurring in pairs in female mammals and consisting of lobes containing clusters of alveoli with a system of ducts to convey the milk to an external nipple or teat. [TFD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000398", ontology="VHOG", source="http://bgee.unil.ch/", source="http://medical-dictionary.thefreedictionary.com/mammary+gland"} property_value: has_relational_adjective "mammary" xsd:string property_value: homology_notes "The detailed similarities of mammary glands in living monotremes, marsupials, and eutherians argue for a monophyletic origin of these glands, perhaps by the combination of parts of preexisting sebaceous and sweat glands.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000398", ontology="VHOG", source="ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.224", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "Originally this was classified as a female reproductive structure, as it was in the MP in 2011" xsd:string property_value: taxon_notes "A mouse mammary gland contains a single duct or sinus, forming 5-10 secondary ducts" xsd:string property_value: taxon_notes "The male Dayak fruit bat has lactating mammary glands" xsd:string property_value: taxon_notes "The mammary glands of humans are in the thoracid/breast region. In other mammals they may be located elsewhere on the mammary ridges." xsd:string property_value: UBPROP:0000012 "The BTO class represents the combination of nipple plus lobe" xsd:string property_value: UBPROP:0000012 "The FMA class represents an individule lobe. The nipple is not a part" xsd:string property_value: UBPROP:0000012 "The MA class represents a composite structure, including the nipple, fat, connective tissue, smooth muscle as parts" xsd:string [Term] id: UBERON:0001926 name: lateral geniculate body namespace: uberon def: "The group of neurons that serve as the primary processor of visual information received from the retina via the optic tract and send processed information to the visual cortex of the occipital lobe." [ISBN:0-683-40008-8, MP:0004165] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "corpus geniculatum externum" RELATED [BTO:0004367] synonym: "corpus geniculatum laterale" RELATED [BTO:0004367] synonym: "corpus geniculatum laterales" EXACT [BIRNLEX:1662] synonym: "corpus geniculatus lateralis" RELATED LATIN [NeuroNames:352] synonym: "external geniculate body" RELATED [Wikipedia:Lateral_geniculate_nucleus] synonym: "lateral geniculate complex" EXACT [] synonym: "lateral geniculate nucleus" EXACT [] synonym: "LGB" RELATED ABBREVIATION [BTO:0004367] synonym: "LGN" BROAD ABBREVIATION [BIRNLEX:1662, NIFSTD:NeuroNames_abbrevSource] synonym: "nucleus corporis geniculati lateralis" RELATED LATIN [BAMS:LG, NeuroNames:352] synonym: "nucleus geniculatus lateralis" EXACT [BIRNLEX:1662] xref: BAMS:C.gl. xref: BAMS:LG xref: BIRNLEX:1662 xref: BTO:0004366 xref: BTO:0004367 xref: DHBA:10429 xref: EFO:0001988 xref: EMAPA:35478 xref: EV:0100219 xref: FMA:62209 xref: MA:0000869 xref: NCIT:C32556 xref: neuronames:352 {source="BIRNLEX:1662"} xref: PBA:128013070 xref: SCTID:362377006 xref: UMLS:C0086526 {source="ncithesaurus:External_Geniculate_Body", source="BIRNLEX:1662"} xref: Wikipedia:Lateral_geniculate_body is_a: UBERON:0000061 ! anatomical structure disjoint_from: UBERON:0001927 ! medial geniculate body relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001017 ! central nervous system relationship: part_of UBERON:0001894 ! diencephalon relationship: part_of UBERON:0001897 ! dorsal plus ventral thalamus property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/b/b7/Gray719.png xsd:anyURI property_value: RO:0002175 NCBITaxon:117569 {source="Ariens, p. 1192"} property_value: UBPROP:0000012 "BTO has distinct classes for body and nucleus, but other sources treat as identical" xsd:string {external_ontology="BTO"} [Term] id: UBERON:0001927 name: medial geniculate body namespace: uberon def: "Nuclear complex of the thalamus situated on the caudal, subpial aspect of the thalamus (Brodal, Neurological Anatomy, 3rd ed., 1981, pg 622)." [BIRNLEX:1670] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "corpus geniculatum mediale" EXACT [BIRNLEX:1670] synonym: "corpus geniculatus medialis" RELATED LATIN [NeuroNames:355] synonym: "internal geniculate body" RELATED [ncithesaurus:Internal_Geniculate_Body] synonym: "medial geniculate complex" EXACT [] synonym: "medial geniculate complex of dorsal thalamus" RELATED [BAMS:MG] synonym: "medial geniculate nuclei" EXACT [] synonym: "medial geniculate nucleus" EXACT [] synonym: "MGB" RELATED [BTO:0002674] synonym: "MGN" BROAD ABBREVIATION [BIRNLEX:1670, NIFSTD:NeuroNames_abbrevSource] synonym: "nuclei corporis geniculati medialis" EXACT LATIN [FMA:62211, FMA:TA] synonym: "nucleus corporis geniculati medialis" RELATED LATIN [NeuroNames:355] synonym: "nucleus geniculatus medialis" RELATED LATIN [NeuroNames:355] xref: BAMS:C.gm. xref: BAMS:MG xref: BIRNLEX:1670 xref: BM:Die-Th-MG xref: BTO:0002674 xref: DHBA:10434 xref: DMBA:16462 xref: EFO:0001968 xref: EMAPA:35546 xref: EV:0100218 xref: FMA:62211 xref: HBA:12926 xref: MA:0000870 xref: MBA:475 xref: NCIT:C32843 xref: neuronames:355 {source="BIRNLEX:1670"} xref: SCTID:362378001 xref: UMLS:C0086596 {source="ncithesaurus:Internal_Geniculate_Body", source="BIRNLEX:1670"} xref: Wikipedia:Medial_geniculate_body is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001017 ! central nervous system relationship: part_of UBERON:0001890 ! forebrain relationship: part_of UBERON:0001894 ! diencephalon property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/1/1b/ThalamicNuclei.png xsd:anyURI property_value: RO:0002171 UBERON:0002479 {source="ABA"} [Term] id: UBERON:0001928 name: preoptic area namespace: uberon def: "Area of the forebrain between the anterior commissure and optic chiasm." [Wikipedia:Preoptic_area, ZFIN:curator] subset: efo_slim subset: uberon_slim subset: vertebrate_core synonym: "area hypothalamica rostralis" RELATED [BTO:0001796] synonym: "area praeoptica" RELATED [] synonym: "area preoptica" RELATED LATIN [Wikipedia:Preoptic_area] synonym: "nuclei preoptici" RELATED LATIN [NeuroNames:377] synonym: "POA" BROAD ABBREVIATION [BIRNLEX:1706, NIFSTD:NeuroNames_abbrevSource, PMID:23375746] synonym: "preoptic hypothalamic area" RELATED [BTO:0001796] synonym: "preoptic hypothalamic region" RELATED [BTO:0001796] synonym: "preoptic nuclei" EXACT [] synonym: "preoptic region" RELATED [] synonym: "preoptic region of hypothalamus" EXACT [] synonym: "regio hypothalamica anterior" RELATED [BTO:0001796] xref: BAMS:POA xref: BIRNLEX:1706 xref: BM:Die-Hy-POA xref: BTO:0001796 xref: CALOHA:TS-0822 xref: DMBA:15577 xref: EFO:0002523 xref: EMAPA:36655 xref: FMA:62313 xref: GAID:644 xref: HBA:4541 xref: MESH:D011301 xref: neuronames:377 {source="BIRNLEX:1706"} xref: SCTID:362382004 xref: TAO:0000470 xref: UMLS:C0033063 {source="BIRNLEX:1706"} xref: UMLS:C1284641 {source="BIRNLEX:1706"} xref: Wikipedia:Preoptic_area xref: ZFA:0000470 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0001894 ! diencephalon property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/8/8c/HypothalamicNuclei.PNG xsd:anyURI property_value: external_definition "Area of the forebrain anterior to the posterior tuberculum and the hypothalamus and ventral to the ventral thalamus. See Figure 7, Atlas of Early Zebrafish Brain Development.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000470", ontology="TAO", source="ZFIN:curator"} property_value: RO:0002175 NCBITaxon:7742 property_value: taxon_notes "Located in the hypothalamus in amniotes[PMC4038951]" xsd:string [Term] id: UBERON:0001929 name: supraoptic nucleus namespace: uberon def: "The supraoptic nucleus (SON) is a nucleus of magnocellular neurosecretory cells in the hypothalamus of the mammalian brain. The nucleus is situated at the base of the brain, adjacent to the optic chiasm. [WP,unvetted]." [https://sourceforge.net/tracker/?func=detail&aid=3474225&group_id=76834&atid=1205376, Wikipedia:Supraoptic_nucleus] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "nucleus supraopticus" EXACT [BTO:0002697] synonym: "nucleus supraopticus" RELATED LATIN [Wikipedia:Supraoptic_nucleus] synonym: "nucleus supraopticus hypothalami" RELATED LATIN [NeuroNames:385] synonym: "nucleus tangentialis (Riley)" RELATED LATIN [NeuroNames:385] synonym: "SO" BROAD ABBREVIATION [BIRNLEX:1411, NIFSTD:NeuroNames_abbrevSource] synonym: "supra-optic nucleus" EXACT [] synonym: "supraoptic nucleus of hypothalamus" EXACT [] synonym: "supraoptic nucleus proper (Lenhossek)" RELATED [NeuroNames:385] synonym: "supraoptic nucleus, general" RELATED [NeuroNames:385] synonym: "supraoptic nucleus, proper" RELATED [BAMS:SO] xref: BAMS:SO xref: BAMS:SON xref: BIRNLEX:1411 xref: BM:Die-Hy-SON xref: BTO:0002697 xref: DHBA:10481 xref: DMBA:15633 xref: EFO:0002476 xref: EMAPA:35843 xref: EV:0100227 xref: FMA:62317 xref: GAID:646 xref: HBA:12907 xref: MA:0000849 xref: MBA:390 xref: MESH:D013495 xref: neuronames:385 {source="BIRNLEX:1411"} xref: SCTID:369130007 xref: UMLS:C0038869 {source="BIRNLEX:1411"} xref: Wikipedia:Supraoptic_nucleus is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001017 ! central nervous system relationship: part_of UBERON:0001894 ! diencephalon relationship: part_of UBERON:0001898 ! hypothalamus property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/d/d7/SONss.jpg xsd:anyURI property_value: depicted:by http://upload.wikimedia.org/wikipedia/en/thumb/d/d7/SONss.jpg/200px-SONss.jpg xsd:anyURI property_value: RO:0002171 UBERON:0001930 {source="ABA"} property_value: RO:0002171 UBERON:0001932 {source="ABA"} [Term] id: UBERON:0001930 name: paraventricular nucleus of hypothalamus namespace: uberon def: "Nucleus in the anterior part of the hypothalamus. (MSH) * one of the magnocellular hypothalamic nuclei, an elongated plate of large, deeply staining cells located close to the third ventricle in the anterior hypothalamic area; major source of oxytocin and to a lesser extent, of antidiuretic hormone, neurohormones, which are carried to the neurohypophysis along the paraventriculohypophysial tract. (CSP)." [BIRNLEX:1407] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "filiform nucleus" EXACT [] synonym: "nuclei paraventriculares" RELATED LATIN [NeuroNames:387] synonym: "nuclei paraventricularis hypothalami" RELATED LATIN [Wikipedia:Paraventricular_nucleus_of_hypothalamus] synonym: "nucleus filiformis" RELATED LATIN [NeuroNames:387] synonym: "nucleus hypothalami filiformis" RELATED LATIN [NeuroNames:387] synonym: "nucleus hypothalami paraventricularis" RELATED LATIN [NeuroNames:387] synonym: "nucleus paraventricularis hypothalami" RELATED [BTO:0002476] synonym: "Pa" BROAD ABBREVIATION [BIRNLEX:1407, NIFSTD:NeuroNames_abbrevSource] synonym: "paraventricular hypothalamic nucleus" EXACT [] synonym: "paraventricular nucleus" EXACT [] synonym: "paraventricular nucleus hypothalamus (Malone)" RELATED [NeuroNames:387] synonym: "paraventricular nucleus of the hypothalamus" RELATED [NeuroNames:387] synonym: "parvocellular hypothalamic nucleus" RELATED [BAMS:PVH] synonym: "subcommissural nucleus (Ziehen)" RELATED [NeuroNames:387] xref: BAMS:Pa xref: BAMS:PAH xref: BAMS:PVH xref: BIRNLEX:1407 xref: BM:Die-Hy-PAH xref: BTO:0002476 xref: DHBA:10476 xref: EFO:0002469 xref: EMAPA:35665 xref: EV:0100229 xref: FMA:62320 xref: GAID:643 xref: HBA:12905 xref: MA:0000848 xref: MBA:38 xref: MESH:D010286 xref: neuronames:387 {source="BIRNLEX:1407"} xref: SCTID:369131006 xref: UMLS:C0030532 {source="BIRNLEX:1407"} xref: Wikipedia:Paraventricular_nucleus_of_hypothalamus is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001017 ! central nervous system relationship: part_of UBERON:0001894 ! diencephalon relationship: part_of UBERON:0001898 ! hypothalamus property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/e/ef/PVNss.jpg xsd:anyURI property_value: depicted:by http://upload.wikimedia.org/wikipedia/en/thumb/e/ef/PVNss.jpg/200px-PVNss.jpg xsd:anyURI property_value: RO:0002171 UBERON:0001929 {source="ABA"} property_value: RO:0002171 UBERON:0001932 {source="ABA"} [Term] id: UBERON:0001945 name: superior colliculus namespace: uberon def: "Part of the midbrain tecturm consisting of paired bodies that sit caudal to the thalamus and surround the pineal gland in the mesencephalon of vertebrate brains. It comprises the rostral aspect of the midbrain, posterior to the periaqueductal gray and adjacent superior the inferior colliculus. The inferior and superior colliculi are known collectively as the corpora quadrigemina (Latin, quadruplet bodies). It consists of several identified cellular layers and also comprises the brachium of the superior colliculus and commissure of supeior colliculus from Wikipedia.org and Neuronames (MM)." [BIRNLEX:1040] comment: ). In hagfish, lamprey, and shark it is a relatively small structure, but in teleost fish it is greatly expanded, in some cases becoming the largest structure in the brain. (See the adjoining drawing of a codfish brain.) In amphibians, reptiles, and especially birds it is also a very significant component, but in mammals it is dwarfed by the massive expansion of the cerebral cortex. subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "anterior colliculus" EXACT [] synonym: "anterior corpus quadrigeminum" EXACT [] synonym: "colliculus bigeminalis oralis" RELATED LATIN [NeuroNames:473] synonym: "colliculus cranialis" RELATED LATIN [NeuroNames:473] synonym: "colliculus rostralis" RELATED LATIN [NeuroNames:473] synonym: "colliculus superior" RELATED LATIN [NeuroNames:473] synonym: "corpora bigemina" RELATED [] synonym: "corpus quadrigeminum superius" RELATED LATIN [NeuroNames:473] synonym: "cranial colliculus" EXACT [] synonym: "dorsal midbrain" RELATED [] synonym: "layers of the superior colliculus" RELATED [NeuroNames:473] synonym: "lobus opticus" RELATED [BTO:0000965] synonym: "nates" RELATED LATIN [NeuroNames:473] synonym: "optic lobe" RELATED [] synonym: "optic tectum" EXACT SENSU [NCBITaxon:32443, NCBITaxon:7777, Wikipedia:Superior_colliculus, ZFA:0000445] synonym: "optic tectum" RELATED [] synonym: "strata (grisea et alba) colliculi cranialis" RELATED LATIN [NeuroNames:473] synonym: "strata (grisea et alba) colliculi superioris" RELATED LATIN [NeuroNames:473] synonym: "tectal lobe" RELATED [] synonym: "tectum" RELATED [] synonym: "tectum opticum" RELATED [] xref: AAO:0010609 xref: BAMS:SC xref: BIRNLEX:1040 xref: BM:MB-Tec-SC xref: BTO:0000965 xref: DHBA:12292 xref: DMBA:16678 xref: EFO:0002474 xref: EMAPA:32869 xref: EV:0100245 xref: FMA:62403 xref: GAID:576 xref: HBA:9114 xref: MA:0001068 xref: MESH:D013477 xref: neuronames:473 {source="BIRNLEX:1040"} xref: TAO:0000445 xref: UMLS:C0228405 {source="BIRNLEX:1040"} xref: Wikipedia:Superior_colliculus xref: XAO:0003226 xref: ZFA:0000445 is_a: UBERON:0000061 ! anatomical structure disjoint_from: UBERON:0001946 ! inferior colliculus relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0002314 ! midbrain tectum property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/d/da/Cn3nucleus.png xsd:anyURI property_value: external_definition "The brain structure where the two separate inputs from the two eyes are combined into a single, integrated map.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010609", ontology="AAO", source="PMID:17952453"} property_value: external_definition "The roof of the midbrain, morphologically visible by the end of the segmentation period. Kimmel et al, 1995.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000445", ontology="TAO", source="ZFIN:curator"} property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "The tectum is a layered structure, with a number of layers that vary by species. The superficial layers are sensory-related, and receive input from the eyes as well as other sensory systems.[1] The optic tectum is one of the fundamental components of the vertebrate brain, existing across the full range of species from hagfish to human.[4] (See the brain article for background.) Some aspects of the structure are very consistent, including a structure composed of a number of layers, with a dense input from the optic nerve to the superficial layers and another strong input conveying somatosensory input to deeper layers. Other aspects are highly variable, such as the total number of layers (from 3 in the African lungfish to 15 in the goldfish[5]), and the number of different types of cells (from 2 in the lungfish to 27 in the house sparrow[5]" xsd:string property_value: taxon_notes "The term SC is used when discussing mammals, and OT for other vertebrates[WP]" xsd:string [Term] id: UBERON:0001946 name: inferior colliculus namespace: uberon def: "Part of the midbrain tectum, consisting of paired predominantly gray matter elevations on the dorsal aspect of the midbrain, located caudal to the superior colliculus, dorsal to the periaqueductal gray of the cerebral aqueduct and rostral to the cerebellum. According to Neuronames, the inferior colliculus comprises the central, pericentral and external nucleus and two predominantly white matter structures, the brachium of the inferior colliculus and the commissure of the inferior colliculus (MM)." [BIRNLEX:806] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "caudal colliculus" EXACT [] synonym: "colliculus caudalis" RELATED LATIN [NeuroNames:476] synonym: "colliculus inferior" RELATED LATIN [Wikipedia:Inferior_colliculus] synonym: "corpus bigeminalis caudalis" RELATED LATIN [NeuroNames:476] synonym: "corpus bigeminum posterioris" RELATED LATIN [NeuroNames:476] synonym: "corpus quadrigeminum inferius" RELATED LATIN [NeuroNames:476] synonym: "inferior colliculi" EXACT PLURAL [EV:0100246] synonym: "posterior colliculus" EXACT [] synonym: "posterior corpus quadrigeminum" EXACT [] xref: BAMS:IC xref: BIRNLEX:806 xref: DHBA:12305 xref: DMBA:16692 xref: EFO:0002465 xref: EMAPA:32870 xref: EV:0100246 xref: FMA:62404 xref: GAID:575 xref: HBA:9102 xref: MA:0001067 xref: MBA:4 xref: MESH:D007245 xref: neuronames:476 {source="BIRNLEX:806"} xref: UMLS:C0228411 {source="BIRNLEX:806"} xref: Wikipedia:Inferior_colliculus is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0002314 ! midbrain tectum property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/2/26/Gray711.png xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001950 name: neocortex namespace: uberon def: "An area of cerebral cortex defined on the basis of cytoarchitecture that have six layers. Starting from the cortical surface the layers are: molecular layer (I), external granular layer (II), external pyramidal layer (III), internal granular layer (IV), internal pyramidal layer (V), and multiform layer (VI). Neocortex is most prominent in the frontal lobe, the parietal lobe, the temporal lobe and the occipital lobe, less so in the cingulate gyrus, the parahippocampal gyrus and the insula. It is composed of two subdivisions: true isocortex and proisocortex (Carpenter-83)(NN)." [BIRNLEX:2547, OldNeuroNames:754] subset: pheno_slim subset: uberon_slim synonym: "cerebral neocortex" EXACT [] synonym: "homogenetic cortex" EXACT DEPRECATED [ISBN:0471888893] synonym: "homotypical cortex" EXACT [BIRNLEX:2547] synonym: "iso-cortex" RELATED [BAMS:iso-cortex] synonym: "isocortex" NARROW [BRAINSPAN:BRAINSPAN] synonym: "isocortex (sensu lato)" EXACT [FMA:62429] synonym: "neocortex (isocortex)" EXACT [DHBA:10160] synonym: "neopallial cortex" EXACT [] synonym: "neopallium" EXACT [] synonym: "nonolfactory cortex" RELATED [BTO:0000920] synonym: "nucleus hypoglossalis" RELATED LATIN [NeuroNames:757] xref: BAMS:ISO xref: BAMS:Iso-cortex xref: BAMS:NCX xref: BIRNLEX:2547 xref: BTO:0000920 xref: DHBA:10160 xref: EHDAA2:0004662 xref: EMAPA:32842 xref: EMAPA:35589 xref: FMA:62429 xref: GAID:677 xref: MA:0002754 xref: MBA:315 xref: MESH:D019579 xref: neuronames:757 {source="BIRNLEX:2547"} xref: PBA:294021746 xref: UMLS:C0175173 {source="BIRNLEX:2547"} xref: Wikipedia:Neocortex is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0000956 ! cerebral cortex relationship: part_of UBERON:0001016 ! nervous system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/7/77/Neocortex.jpg xsd:anyURI property_value: homology_notes "The 6-layer neocortex is well conserved in all extant mammals, but not present in birds or reptils" xsd:string {source="PMID:23027930"} property_value: RO:0002171 UBERON:0002264 {source="ABA"} [Term] id: UBERON:0001954 name: Ammon's horn namespace: uberon alt_id: UBERON:0003940 alt_id: UBERON:0004165 def: "A part of the brain consisting of a three layered cortex located in the forebrain bordering the medial surface of the lateral ventricle. The term hippocampus is often used synonymously with hippocampal formation which consists of the hippocampus proper or Cornu Ammonis, the dentate gyrus and the subiculum." [BIRNLEX:721] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "ammon gyrus" EXACT [GO:0021541] synonym: "ammon horn" EXACT [BIRNLEX:721] synonym: "Ammon horn fields" RELATED [BAMS:CA] synonym: "Ammon's horn" EXACT [GO:0021541] synonym: "Ammons horn" RELATED [BTO:0003705] synonym: "cornu ammonis" RELATED [GO:0021541] synonym: "hippocampus" RELATED [MA:0000191] synonym: "hippocampus major" EXACT [] synonym: "hippocampus proper" EXACT [BIRNLEX:721] synonym: "hippocampus proprius" EXACT LATIN [FMA:62493, FMA:TA] xref: BAMS:CA xref: BIRNLEX:721 xref: BM:Tel-CAM xref: BTO:0003705 xref: CALOHA:TS-0460 xref: DHBA:10296 xref: DMBA:16124 xref: EFO:0000530 xref: EHDAA2:0004443 xref: EMAPA:32772 xref: EMAPA:32845 xref: EV:0100180 xref: FMA:62493 xref: GAID:623 xref: http://scalablebrainatlas.incf.org/services/thumbnail.php?template=ABA07&size=L&dim=2d3d&format=png®ion=CA xref: MA:0000191 xref: MAT:0000114 xref: MBA:375 xref: MESH:D006624 xref: MIAA:0000114 xref: NCIT:C12444 xref: NCIT:C32374 xref: neuronames:3157 xref: PBA:128012244 xref: SCTID:361561007 xref: UMLS:C0019564 {source="BIRNLEX:721", source="ncithesaurus:Hippocampus"} xref: VHOG:0001177 xref: Wikipedia:Hippocampus is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0002421 ! hippocampal formation property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/2/2e/Gray739-emphasizing-hippocampus.png xsd:anyURI property_value: has_relational_adjective "hippocampal" xsd:string property_value: RO:0002171 UBERON:0001885 {source="ABA"} property_value: RO:0002171 UBERON:0002601 {source="ABA"} property_value: UBPROP:0000012 "Non-mammalian species do not have a brain structure that looks like the mammalian hippocampus, but they have one that is considered homologous to it. The hippocampus, as pointed out above, is essentially the medial edge of the cortex. Only mammals have a fully developed cortex, but the structure it evolved from, called the pallium, is present in all vertebrates, even the most primitive ones such as the lamprey or hagfish. The pallium is usually divided into three zones: medial, lateral, and dorsal. The medial pallium forms the precursor of the hippocampus. It does not resemble the hippocampus visually, because the layers are not warped into an S shape or enwrapped by the dentate gyrus, but the homology is indicated by strong chemical and functional affinities. There is now evidence that these hippocampal-like structures are involved in spatial cognition in birds, reptiles, and fish. In birds, the correspondence is sufficiently well established that most anatomists refer to the medial pallial zone as the 'avian hippocampus'. The story for fish is more complex. In teleost fish (which make up the great majority of existing species), the forebrain is distorted in comparison to other types of vertebrates: most neuroanatomists believe that the teleost forebrain is essentially everted, like a sock turned inside-out, so that structures that lie in the interior, next to the ventricles, for most vertebrates, are found on the outside in teleost fish, and vice versa. One of the consequences of this is that the medial pallium ('hippocampal' zone) of a typical vertebrate is thought to correspond to the lateral pallium of a typical fish. Several types of fish (particularly goldfish) have been shown experimentally to have strong spatial memory abilities, even forming 'cognitive maps' of the areas they inhabit.[WP]" xsd:string [Term] id: UBERON:0001969 name: blood plasma namespace: uberon def: "The liquid component of blood, in which erythrocytes are suspended." [http://orcid.org/0000-0002-6601-2165] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "blood plasm" EXACT [] synonym: "plasma" BROAD [MA:0002501] synonym: "portion of blood plasma" EXACT [] synonym: "portion of plasma" BROAD [FMA:62970] xref: BTO:0000131 xref: CALOHA:TS-0800 xref: EFO:0001905 xref: EMAPA:35690 xref: FMA:62970 xref: GAID:1178 xref: MA:0002501 xref: MAT:0000052 xref: MESH:D010949 xref: MIAA:0000052 xref: NCIT:C13356 xref: UMLS:C0032105 {source="ncithesaurus:Plasma"} xref: Wikipedia:Blood_plasma is_a: EFO:0001941 ! blood component is_a: UBERON:0006314 ! bodily fluid relationship: part_of UBERON:0000178 ! blood [Term] id: UBERON:0001970 name: bile namespace: uberon def: "Vital aqueous secretion of the liver that is formed by hepatocytes and modified down stream by absorptive and secretory properties of the bile duct epithelium." [DOI:10.1002/cphy.c120027, Wikipedia:Bile] subset: pheno_slim subset: uberon_slim synonym: "fel" RELATED [BTO:0000121] synonym: "gall" RELATED [BTO:0000121] xref: BTO:0000121 xref: CALOHA:TS-1172 xref: ENVO:02000023 xref: FMA:62971 xref: GAID:1157 xref: galen:Bile xref: MA:0002513 xref: MESH:D001646 xref: NCIT:C13192 xref: UMLS:C0005388 {source="ncithesaurus:Bile"} xref: Wikipedia:Bile xref: ZFA:0005857 is_a: UBERON:0006314 ! bodily fluid relationship: part_of UBERON:0000468 ! multicellular organism property_value: taxon_notes "In many species, bile is stored in the gallbladder and upon eating is discharged into the duodenum." xsd:string property_value: UBPROP:0000009 "aids the process of digestion of lipids in the small intestine" xsd:string property_value: UBPROP:0000009 "bile salts function to emulsify dietary fats and facilitate their intestinal absorption" xsd:string property_value: UBPROP:0000009 "elimination of cholesterol" xsd:string property_value: UBPROP:0000009 "major excretory route for potentially harmful exogenous lipophilic substances" xsd:string property_value: UBPROP:0000009 "many hormones and pheromones are excreted in bile, and contribute to growth and development of the intestine in some species and provide attractants for the weaning of non-human vertebrates" xsd:string property_value: UBPROP:0000009 "protects the organism from enteric infections by excreting immune globulin A (IgA), inflammatory cytokines, and stimulating the innate immune system in the intestine" xsd:string [Term] id: UBERON:0001976 name: epithelium of esophagus namespace: uberon def: "The epithelial layer that lines the luminal space of the esophagus." [ISBN:0-683-40008-8, MP:0000468] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "epithelial tissue of esophagus" EXACT [OBOL:automatic] synonym: "epithelial tissue of gullet" EXACT [OBOL:automatic] synonym: "epithelial tissue of oesophagus" EXACT [OBOL:automatic] synonym: "epithelium of gullet" EXACT [OBOL:automatic] synonym: "epithelium of oesophagus" EXACT [OBOL:automatic] synonym: "esophageal epithelium" EXACT [] synonym: "esophagus epithelial tissue" EXACT [OBOL:automatic] synonym: "esophagus epithelium" EXACT [] synonym: "gullet epithelial tissue" EXACT [OBOL:automatic] synonym: "gullet epithelium" EXACT [OBOL:automatic] synonym: "oesophagus epithelial tissue" EXACT [OBOL:automatic] synonym: "oesophagus epithelium" RELATED [] xref: BTO:0001578 xref: CALOHA:TS-0698 xref: EFO:0003041 xref: EHDAA2:0001287 xref: EMAPA:16835 xref: FMA:63063 xref: MA:0001565 xref: NCIT:C49221 xref: TAO:0001499 xref: UMLS:C1179544 {source="ncithesaurus:Esophageal_Epithelium"} xref: ZFA:0001499 is_a: UBERON:0000483 ! epithelium intersection_of: UBERON:0000483 ! epithelium intersection_of: part_of UBERON:0001043 ! esophagus relationship: part_of UBERON:0000344 ! mucosa relationship: part_of UBERON:0001043 ! esophagus relationship: part_of UBERON:0002469 ! esophagus mucosa property_value: external_definition "Simple columnar epithelium that lines the esophagus. Chen et al, 2007.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0001499", ontology="TAO", source="ZFIN:curator"} property_value: IAO:0000116 "TODO check epithelium types: in FMA: Nonkeratinizing stratified squamous epithelium; mouse has basal and squamous subtypes; in ZFA it is columnar" xsd:string [Term] id: UBERON:0001981 name: blood vessel namespace: uberon def: "A vessel through which blood circulates in the body." [BTO:0001102, Wikipedia:Blood_vessel] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "region of vascular tree organ" EXACT [FMA:50722] synonym: "vas sanguineum" RELATED LATIN [Wikipedia:Blood_vessel] synonym: "vascular element" BROAD [EMAPA:35993] synonym: "vascular tree organ region" EXACT [FMA:50722] xref: AAO:0011004 xref: AEO:0000207 xref: BTO:0001102 xref: CALOHA:TS-0080 xref: EFO:0000817 xref: EHDAA2:0003252 xref: EHDAA:240 xref: EMAPA:32743 xref: EMAPA:35993 xref: FMA:50722 xref: FMA:63183 xref: GAID:169 xref: MA:0000060 xref: MAT:0000393 xref: MESH:D001808 xref: NCIT:C12679 xref: NLXANAT:090901 xref: SCTID:361097006 xref: TAO:0002137 xref: UMLS:C0005847 {source="ncithesaurus:Blood_Vessel"} xref: VHOG:0001250 xref: Wikipedia:Blood_vessel xref: XAO:0001011 xref: ZFA:0005314 is_a: UBERON:0000055 ! vessel property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/2/29/Circulatory_System_en.svg xsd:anyURI property_value: external_definition "Any of the vessels through which blood circulates in the body. [XAO:0001011_][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001250", ontology="VHOG", source="http://bgee.unil.ch/"} property_value: external_definition "Any of the vessels through which blood circulates in the body.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0011004", ontology="AAO", source="AAO:EJS"} property_value: homology_notes "The appearance of Chordata and subsequently the vertebrates is accompanied by a rapid structural diversification of this primitive linear heart: looping, unidirectional circulation, an enclosed vasculature, and the conduction system.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001250", ontology="VHOG", source="DOI:10.1196/annals.1341.002 Bishopric NH, Evolution of the heart from bacteria to man. Annals of the New York Academy of Sciences (2006)", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "consider adopting the EMAPA superclass 'vascular element', which includes microvasculature (e.g. capillaries), vascular plexus" xsd:string property_value: taxon_notes "annelids have blood vessels, but this class is not applicable to annelids." xsd:string property_value: UBPROP:0000012 "FMA:63183 Blood vessel is categorized as 'general anatomical term'. Suggestion to map to region of vascular tree from Terry H at JAX" xsd:string {external_ontology="FMA"} [Term] id: UBERON:0001982 name: capillary namespace: uberon def: "Any of the smallest blood vessels connecting arterioles with venules." [https://github.com/obophenotype/uberon/issues/137, ISBN:0073040584, Wikipedia:Capillary] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "blood capillary" EXACT [] synonym: "capillary vessel" EXACT [] xref: AAO:0010252 xref: BTO:0002045 xref: CALOHA:TS-2006 xref: EFO:0001906 xref: EMAPA:35198 xref: EV:0100035 xref: FMA:63194 xref: MA:0000065 xref: MESH:D002196 xref: NCIT:C12685 xref: NLXANAT:090902 xref: TAO:0005250 xref: UMLS:C0935624 {source="ncithesaurus:Capillary"} xref: VHOG:0001253 xref: Wikipedia:Capillary xref: XAO:0000116 xref: ZFA:0005250 is_a: UBERON:0001981 ! blood vessel relationship: part_of UBERON:0002049 ! vasculature property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/2/2f/A_red_blood_cell_in_a_capillary,_pancreatic_tissue_-_TEM.jpg xsd:anyURI property_value: external_definition "Any of the tiny blood vessels connecting the arterioles to the venules.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010252", ontology="AAO", source="AAO:BJB"} property_value: homology_notes "The appearance of Chordata and subsequently the vertebrates is accompanied by a rapid structural diversification of this primitive linear heart: looping, unidirectional circulation, an enclosed vasculature, and the conduction system.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001253", ontology="VHOG", source="DOI:10.1196/annals.1341.002 Bishopric NH, Evolution of the heart from bacteria to man. Annals of the New York Academy of Sciences (2006)", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "not all sources agree capillary is a blood vessel - consider adopting EMAPA superclass of vascular element" xsd:string property_value: RO:0002175 NCBITaxon:9606 property_value: seeAlso https://github.com/obophenotype/uberon/issues/2186 xsd:string property_value: UBPROP:0000010 "capillaries lack tunica media and tunica adventitia; only the endothelial wall of the tunica intima belongs" xsd:string [Term] id: UBERON:0001985 name: corneal endothelium namespace: uberon def: "A monolayer of specialized, flattened, mitochondria-rich cells that lines the posterior surface of the cornea and faces the anterior chamber of the eye[WP]." [Wikipedia:Corneal_endothelium] subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "cornea endothelium" EXACT [OBOL:automatic] synonym: "endothelium of cornea" EXACT [OBOL:automatic] synonym: "epithelium posterius corneae" RELATED LATIN [Wikipedia:Corneal_endothelium] xref: CALOHA:TS-0172 xref: EMAPA:35935 xref: FMA:63882 xref: GAID:891 xref: MA:0001242 xref: MESH:D004728 xref: NCIT:C12707 xref: SCTID:368827009 xref: TAO:0002186 xref: UMLS:C0014259 {source="ncithesaurus:Corneal_Endothelium"} xref: Wikipedia:Corneal_endothelium xref: ZFA:0001687 is_a: UBERON:0001986 ! endothelium intersection_of: UBERON:0001986 ! endothelium intersection_of: part_of UBERON:0000964 ! cornea relationship: part_of UBERON:0000964 ! cornea relationship: part_of UBERON:0000970 ! eye property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/6/66/Gray871.png xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001986 name: endothelium namespace: uberon def: "A layer of epithelium that lines the heart, blood vessels (endothelium, vascular), lymph vessels (endothelium, lymphatic), and the serous cavities of the body[MESH]. Simple squamous epithelium which lines blood and lymphatic vessels and the heart[FMA]." [FMA:63916, https://github.com/obophenotype/uberon/issues/225, MESH:A10.272.491] comment: The term 'endothelium' has been either restricted to the continuous cell layer of the vertebrates, as we are assuming here, or applied to all the cells able to adhere to the luminal surface of the vascular basement membrane (Casley-Smith 1980) subset: efo_slim subset: human_reference_atlas subset: uberon_slim xref: BTO:0000393 xref: CALOHA:TS-0278 xref: EFO:0002548 xref: FMA:63916 xref: GAID:520 xref: galen:Endothelium xref: MESH:D004727 xref: NCIT:C12481 xref: SCTID:27168002 xref: UMLS:C0014257 {source="ncithesaurus:Endothelium"} is_a: UBERON:0000483 ! epithelium property_value: has_relational_adjective "endothelial" xsd:string property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0001987 name: placenta namespace: uberon def: "Organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin[GO]. The fetal portion of the placenta is known as the villous chorion. The maternal portion is known as the decidua basalis. The two portions are held together by anchoring villi that are anchored to the decidua basalis by the cytotrophoblastic shell." [http://www.med.umich.edu/lrc/coursepages/m1/embryology/embryo/06placenta.htm, Wikipedia:Placenta] comment: Marsupials possess only a rudimentary yolk-type placenta, with reduced nutrient and oxygen exchanging capabilities. subset: efo_slim subset: human_reference_atlas subset: organ_slim subset: pheno_slim subset: uberon_slim synonym: "allantoic placenta" EXACT [ISBN:0073040584] synonym: "eutherian placenta" EXACT [] xref: BTO:0001078 xref: CALOHA:TS-0799 xref: EFO:0001407 xref: EMAPA:35689 xref: EV:0100119 xref: FMA:63934 xref: GAID:379 xref: MA:0000386 xref: MAT:0000279 xref: MESH:D010920 xref: MIAA:0000279 xref: NCIT:C13272 xref: SCTID:181455002 xref: UMLS:C0032043 {source="ncithesaurus:Placenta"} xref: VHOG:0001266 xref: Wikipedia:Placenta is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0000474 ! female reproductive system relationship: part_of UBERON:0000990 ! reproductive system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/6/66/Placenta.jpg xsd:anyURI property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/f/f1/Placenta.svg xsd:anyURI property_value: has_relational_adjective "placental" xsd:string property_value: homology_notes "Phylogenetic analyses of the concatenated data set using maximum parsimony, maximum likelihood and distance based (neighbour joining) methods all converged on a nearly identical, well supported topology defining four principal eutherian lineages. The results affirm monophyly of traditional placental orders (except Artiodactyla and Insectivora), and also support some previously proposed, as well as new, superordinal clades.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001266", ontology="VHOG", source="DOI:10.1038/35054550 Murphy WJ, Eizirik E, Johnson WE, Zhang YP, Ryder OA, O'Brien SJ, Molecular phylogenetics and the origins of placental mammals. Nature (2001)", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "Eutherians: In eutherians, the chorioallantoic membrane of the fetus establishes intimate contact with the adjacent vascular wall of the mother's uterus to produce the placenta, a composite structure formed in part from tissues of the fetus and in part from tissues of the mother [ISBN:0073040584 (Vertebrates, Kardong)]. TODO - is taxon restriction too strict, even if we restrict def to allantoic placenta? - WP says: also found in some snakes and lizards with varying levels of development up to mammalian levels. Pough et al. 1992. Herpetology: Third Edition. Pearson Prentice Hall:Pearson Education, Inc., 2002. // See also: DOI:10.1002/jmor.11011" xsd:string [Term] id: UBERON:0001989 name: superior cervical ganglion namespace: uberon def: "Trunk ganglion which is bilaterally paired and located at the anterior end of the sympathetic ganglion chain." [Wikipedia:Superior_cervical_ganglion, ZFIN:curator] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "ganglion cervicale superius" RELATED LATIN [BTO:0001325, Wikipedia:Superior_cervical_ganglion] synonym: "SCG" RELATED ABBREVIATION [ZFA:0001572] synonym: "superior cervical sympathetic ganglion" EXACT [] synonym: "superior sympathetic cervical ganglion" RELATED [] xref: BAMS:GSC xref: BAMS:SCGn xref: BTO:0001325 xref: EFO:0001945 xref: EHDAA:8943 xref: EMAPA:18441 xref: FMA:6467 xref: GAID:712 xref: MA:0001156 xref: MESH:D017783 xref: NCIT:C92213 xref: RETIRED_EHDAA2:0001946 xref: SCTID:279278002 xref: TAO:0001572 xref: UMLS:C0206257 {source="ncithesaurus:Superior_Cervical_Ganglion"} xref: Wikipedia:Superior_cervical_ganglion xref: ZFA:0001572 is_a: UBERON:0007134 ! trunk ganglion relationship: part_of UBERON:0000010 ! peripheral nervous system relationship: part_of UBERON:0000013 ! sympathetic nervous system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/e/e1/Gray844.png xsd:anyURI [Term] id: UBERON:0001997 name: olfactory epithelium namespace: uberon alt_id: UBERON:0004853 def: "A sensory epithelium inside the nasal cavity that is responsible for detecting odors[WP]." [Wikipedia:Olfactory_epithelium] comment: Genes: V1Rs, Trpc2 present in lamprey subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "main olfactory epithelium" EXACT [NCBIBook:NBK55971] synonym: "MOE" RELATED ABBREVIATION [NCBIBook:NBK55971] synonym: "nasal cavity olfactory epithelium" EXACT [MA:0001325] synonym: "nasal epithelium" RELATED [] synonym: "nasal sensory epithelium" RELATED [] synonym: "olfactory membrane" EXACT [BIRNLEX:2703] synonym: "olfactory sensory epithelium" EXACT [] synonym: "pseudostratified main olfactory epithelium" RELATED [http://www.ncbi.nlm.nih.gov/books/NBK55971/] synonym: "sensory olfactory epithelium" EXACT [] xref: AAO:0010158 xref: BIRNLEX:2703 xref: BTO:0000108 xref: CALOHA:TS-0703 xref: EFO:0001972 xref: EHDAA2:0001228 xref: EHDAA:4774 xref: EMAPA:17606 xref: FMA:64803 xref: MA:0001325 xref: MAT:0000445 xref: NCIT:C33203 xref: neuronames:1900 {source="BIRNLEX:2703"} xref: SCTID:37623003 xref: TAO:0000554 xref: UMLS:C0599332 {source="BIRNLEX:2703", source="ncithesaurus:Olfactory_Epithelium"} xref: VHOG:0000985 xref: Wikipedia:Olfactory_epithelium xref: ZFA:0000554 is_a: EFO:0000792 ! craniofacial tissue is_a: UBERON:0000483 ! epithelium relationship: part_of UBERON:0000004 ! nose relationship: part_of UBERON:0000010 ! peripheral nervous system relationship: part_of UBERON:0000065 ! respiratory tract relationship: part_of UBERON:0000344 ! mucosa relationship: part_of UBERON:0001004 ! respiratory system property_value: axiom_lost_from_external_ontology "relationship loss: part_of principal cavity (AAO:0000992)[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010158", ontology="AAO"} property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/4/4d/Gray857.png xsd:anyURI property_value: external_definition "Sensory lining of the medial wall, roof and anterior aspects of the main olfactory cavity (cavum principale).[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010158", ontology="AAO", source="AAO:DSM"} [Term] id: UBERON:0002005 name: enteric nervous system namespace: uberon def: "The enteric nervous system is composed of two ganglionated neural plexuses in the gut wall which form one of the three major divisions of the autonomic nervous system. The enteric nervous system innervates the gastrointestinal tract, the pancreas, and the gall bladder. It contains sensory neurons, interneurons, and motor neurons. Thus the circuitry can autonomously sense the tension and the chemical environment in the gut and regulate blood vessel tone, motility, secretions, and fluid transport. The system is itself governed by the central nervous system and receives both parasympathetic and sympathetic innervation[GO]." [GO:0048484] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "enteric PNS" EXACT [EFO:0000895] synonym: "PNS - enteric" EXACT [EFO:0000895] xref: BAMS:ENS xref: BIRNLEX:1166 xref: BTO:0002506 xref: CALOHA:TS-2093 xref: EFO:0000895 xref: EHDAA2:0004202 xref: EMAPA:26922 xref: FMA:66070 xref: GAID:799 xref: MA:0000222 xref: MAT:0000102 xref: MESH:D017615 xref: MIAA:0000102 xref: TAO:0001155 xref: UMLS:C0206111 {source="BIRNLEX:1166"} xref: Wikipedia:Enteric_nervous_system xref: ZFA:0001155 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000467 ! anatomical system property_value: UBPROP:0000012 "most sources classify this as autonomic, but in FMA it is placed directly under nervous system." xsd:string {external_ontology="FMA"} [Term] id: UBERON:0002012 name: pulmonary artery namespace: uberon def: "An artery that carries deoxygenated blood from heart to the lungs. They are the only arteries (other than umbilical arteries in the fetus) that carry deoxygenated blood.." [http://orcid.org/0000-0002-6601-2165, Wikipedia:Pulmonary_artery] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "arteria pulmonalis" RELATED LATIN [Wikipedia:Pulmonary_artery] synonym: "pulmonary arterial subtree" RELATED [FMA:66326] synonym: "pulmonary arterial tree" EXACT [FMA:66326] synonym: "pulmonary arterial tree organ part" EXACT [FMA:66326] synonym: "truncus pulmonalis" RELATED LATIN [Wikipedia:Pulmonary_artery] xref: AAO:0010221 xref: BTO:0000778 xref: CALOHA:TS-0839 xref: EFO:0001399 xref: EHDAA2:0001575 xref: EHDAA:4351 xref: EMAPA:17008 xref: FMA:66326 xref: GAID:505 xref: galen:PulmonaryArtery xref: MA:0002031 xref: MESH:D011651 xref: NCIT:C12774 xref: SCTID:181380003 xref: UMLS:C0034052 {source="ncithesaurus:Pulmonary_Artery"} xref: VHOG:0000982 xref: Wikipedia:Pulmonary_artery xref: XAO:0004162 is_a: UBERON:0001637 ! artery property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/d/db/Alveoli_diagram.png xsd:anyURI property_value: external_definition "Major artery which supplies blood to the lungs.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010221", ontology="AAO", source="AAO:BJB"} property_value: external_definition "One of two arteries, leaving from the heart, the left one supplying the left lung and the right one supplying the right lung. [TFD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000982", ontology="VHOG", source="http://bgee.unil.ch/", source="http://medical-dictionary.thefreedictionary.com/pulmonary+artery"} property_value: homology_notes "On the other hand, in the sister clade of the actinopterygians, the sarcopterygians, the gill circulation is supplemented with lung ventilation. As a result, the pulmonary artery and vein and a functional ductus arteriosus arose as a major evolutionary innovation from the sixth arch, giving the organism a flexible shunt to balance blood supply to and from gills and lungs according to environmental conditions.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000982", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.620", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "In the human heart, the pulmonary trunk (pulmonary artery or main pulmonary artery) begins at the base of the right ventricle. It is short and wide - approximately 5 cm (2 inches) in length and 3 cm (1.2 inches) in diameter. It then branches into two pulmonary arteries (left and right), which deliver deoxygenated blood to the corresponding lung[WP]" xsd:string [Term] id: UBERON:0002021 name: occipital lobe namespace: uberon def: "Posterior part of the cerebral hemisphere (MSH)." [BIRNLEX:1136] comment: In some species, parcellations of lobes are not well defined or at all, and therefore the occipital lobe could refer to the most posterior mammalian cerebral cortex. subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "lobus occipitalis" RELATED LATIN [Wikipedia:Occipital_lobe] synonym: "regio occipitalis" EXACT LATIN [FMA:67325, FMA:TA] xref: BAMS:Occipital_lobe xref: BAMS:OL xref: BIRNLEX:1136 xref: BTO:0000293 xref: CALOHA:TS-0693 xref: DHBA:12148 xref: EFO:0000915 xref: EV:0100170 xref: FMA:67325 xref: GAID:678 xref: HBA:4180 xref: MAT:0000507 xref: MESH:D009778 xref: NCIT:C12355 xref: neuronames:140 {source="BIRNLEX:1136"} xref: SCTID:180923002 xref: UMLS:C0028785 {source="BIRNLEX:1136", source="ncithesaurus:Occipital_Lobe"} xref: Wikipedia:Occipital_lobe is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000956 ! cerebral cortex relationship: part_of UBERON:0001869 ! cerebral hemisphere property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/8/8c/Gray727_occipital_lobe.png xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0002028 name: hindbrain namespace: uberon def: "The most posterior of the three principal regions of the brain. In mammals and birds the hindbrain is divided into a rostral metencephalon and a caudal myelencephalon. In zebrafish, with the exception of the cerebellum, the ventral remainder of the metencephalon can be separated only arbitrarily from the more caudal myelencephalic portion of the medulla oblongata (From: Neuroanatomy of the Zebrafish Brain)[ZFA]. Organ component of neuraxis that has as its parts the pons, cerebellum and medulla oblongata[FMA]." [Wikipedia:Rhombencephalon, ZFA:0000029, ZFIN:curator] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "rhombencephalon" RELATED [] xref: AAO:0010150 xref: BAMS:HB xref: BIRNLEX:942 xref: BTO:0000672 xref: CALOHA:TS-0457 xref: DHBA:10653 xref: DMBA:16808 xref: EFO:0000923 xref: EHDAA2:0000746 xref: EHDAA:3514 xref: EHDAA:6487 xref: EMAPA:16916 xref: FMA:67687 xref: MA:0000195 xref: MAT:0000107 xref: MBA:1065 xref: MESH:D012249 xref: MIAA:0000107 xref: NCIT:C40336 xref: neuronames:540 {source="BIRNLEX:942"} xref: SCTID:303456008 xref: TAO:0000029 xref: UMLS:C0035507 {source="ncithesaurus:Hind-Brain", source="BIRNLEX:942"} xref: UMLS:C1522180 {source="BIRNLEX:942"} xref: VHOG:0000070 xref: Wikipedia:Rhombencephalon xref: XAO:0000015 xref: ZFA:0000029 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system property_value: axiom_lost_from_external_ontology "relationship loss: develops_from hindbrain neural tube (TAO:0007043)[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000029", ontology="TAO"} property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/5/54/EmbryonicBrain.svg xsd:anyURI property_value: external_definition "Posterior part of the brain consisting of the cerebellum and medulla oblongata.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010150", ontology="AAO", source="AAO:BJB"} property_value: external_definition "The most posterior of the three principal regions of the brain, forming the rhombencephalon and all or most of the metencephalon. Kimmel et al, 1995.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000029", ontology="TAO", source="ZFIN:curator"} property_value: has_relational_adjective "rhombencephalic" xsd:string property_value: homology_notes "Fine structural, computerized three-dimensional (3D) mapping of cell connectivity in the amphioxus nervous system and comparative molecular genetic studies of amphioxus and tunicates have provided recent insights into the phylogenetic origin of the vertebrate nervous system. The results suggest that several of the genetic mechanisms for establishing and patterning the vertebrate nervous system already operated in the ancestral chordate and that the nerve cord of the proximate invertebrate ancestor of the vertebrates included a diencephalon, midbrain, hindbrain, and spinal cord.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000070", ontology="VHOG", source="DOI:10.1016/S0959-4388(99)00003-3 Holland LZ and Holland ND, Chordate origins of the vertebrate central nervous system. Current Opinion in Neurobiology (1999)", source="http://bgee.unil.ch/"} property_value: RO:0002171 UBERON:0001891 {exceptions="ZFA", source="ABA", source="https://github.com/obophenotype/uberon/issues/378", status="pending"} property_value: RO:0002171 UBERON:0001894 {source="ABA"} property_value: RO:0002175 NCBITaxon:7762 {source="PMID:8932866"} property_value: RO:0002175 NCBITaxon:9606 property_value: UBPROP:0000012 "in MA, brainstem and hindbrain and part-of siblings under brain, consistent with FMA and NIF. See also notes for cerebellum. We weaken the relation in ABA to overlaps" xsd:string {external_ontology="MA"} [Term] id: UBERON:0002031 name: epithelium of bronchus namespace: uberon def: "An epithelium that is part of a bronchus [Automatically generated definition]." [OBOL:automatic] subset: efo_slim subset: pheno_slim synonym: "bronchi epithelial tissue" EXACT [OBOL:automatic] synonym: "bronchi epithelium" EXACT [OBOL:automatic] synonym: "bronchial epithelium" EXACT [] synonym: "bronchial trunk epithelial tissue" EXACT [OBOL:automatic] synonym: "bronchial trunk epithelium" EXACT [OBOL:automatic] synonym: "bronchus epithelial tissue" EXACT [OBOL:automatic] synonym: "bronchus epithelium" EXACT [] synonym: "epithelial tissue of bronchi" EXACT [OBOL:automatic] synonym: "epithelial tissue of bronchial trunk" EXACT [OBOL:automatic] synonym: "epithelial tissue of bronchus" EXACT [OBOL:automatic] synonym: "epithelium of bronchi" EXACT [OBOL:automatic] synonym: "epithelium of bronchial trunk" EXACT [OBOL:automatic] xref: BTO:0001845 xref: CALOHA:TS-1240 xref: EFO:0000307 xref: EMAPA:32691 xref: FMA:67782 xref: MA:0001839 xref: NCIT:C32231 xref: UMLS:C0599333 {source="ncithesaurus:Bronchial_Epithelium"} is_a: UBERON:0000483 ! epithelium intersection_of: UBERON:0000483 ! epithelium intersection_of: part_of UBERON:0002185 ! bronchus relationship: part_of UBERON:0000065 ! respiratory tract relationship: part_of UBERON:0001004 ! respiratory system relationship: part_of UBERON:0002185 ! bronchus [Term] id: UBERON:0002034 name: suprachiasmatic nucleus namespace: uberon def: "* An ovoid densely packed collection of small cells of the anterior hypothalamus lying close to the midline in a shallow impression of the optic chiasm. (MSH) * small group of nerve cell bodies in the supraoptic region of the hypothalamus, just above the optic chiasm; influences rhythmic aspects of hypothalamic functions in many vertebrate species. (CSP)." [BIRNLEX:1325] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "nucleus suprachiasmaticus" RELATED LATIN [Wikipedia:Suprachiasmatic_nucleus] synonym: "nucleus suprachiasmaticus hypothalami" RELATED LATIN [NeuroNames:384] synonym: "SCh" BROAD ABBREVIATION [BIRNLEX:1325, NIFSTD:NeuroNames_abbrevSource] synonym: "SCN" BROAD ABBREVIATION [BIRNLEX:1325, NIFSTD:NeuroNames_abbrevSource] synonym: "SCN" RELATED [BTO:0001822] synonym: "suprachiasmatic nucleus (Spiegel-Zwieg)" RELATED [NeuroNames:384] synonym: "suprachiasmatic nucleus of hypothalamus" EXACT [] xref: BAMS:SCH xref: BAMS:SCh xref: BIRNLEX:1325 xref: BM:Die-Hy-SCN xref: BTO:0001822 xref: CALOHA:TS-0992 xref: DHBA:10480 xref: DMBA:15660 xref: EFO:0002475 xref: EMAPA:35841 xref: EV:0100228 xref: FMA:67883 xref: GAID:645 xref: HBA:12908 xref: MA:0000843 xref: MBA:286 xref: MESH:D013493 xref: NCIT:C74537 xref: neuronames:384 {source="BIRNLEX:1325"} xref: SCTID:369132004 xref: TAO:0000441 xref: UMLS:C0038866 {source="ncithesaurus:Suprachiasmatic_Nucleus", source="BIRNLEX:1325"} xref: UMLS:C1289559 {source="BIRNLEX:1325"} xref: VHOG:0000036 xref: Wikipedia:Suprachiasmatic_nucleus xref: XAO:0004072 xref: ZFA:0000441 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001017 ! central nervous system relationship: part_of UBERON:0001894 ! diencephalon relationship: part_of UBERON:0001898 ! hypothalamus relationship: part_of UBERON:0001928 ! preoptic area property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/8/8c/HypothalamicNuclei.PNG xsd:anyURI property_value: RO:0002171 UBERON:0001934 {source="ABA"} property_value: RO:0002171 UBERON:0002219 {source="ABA"} property_value: RO:0002171 UBERON:0002625 {source="ABA"} property_value: RO:0002171 UBERON:0002689 {source="ABA"} property_value: RO:0002171 UBERON:0002690 {source="ABA"} property_value: RO:0002171 UBERON:0007626 {source="ABA"} [Term] id: UBERON:0002037 name: cerebellum namespace: uberon def: "Part of the metencephalon that lies in the posterior cranial fossa behind the brain stem. It is concerned with the coordination of movement[MESH]. A large dorsally projecting part of the brain concerned especially with the coordination of muscles and the maintenance of bodily equilibrium, situated between the brain stem and the back of the cerebrum , and formed in humans of two lateral lobes and a median lobe[BTO]. Brain structure derived from the anterior hindbrain, and perhaps including posterior midbrain. The cerebellum plays a role in somatic motor function, the control of muscle tone, and balance[ZFA]." [BTO:0000232, https://sourceforge.net/tracker/index.php?func=detail&aid=3291162&group_id=76834&atid=1205376, ISBN:3764351209, MESH:A08.186.211.132.810.428.200, ZFA:0000100] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "corpus cerebelli" RELATED LATIN [NeuroNames:643] synonym: "epencephalon-1" EXACT [FMA:67944] synonym: "infratentorial region" BROAD [Wikipedia:Tentorium_cerebelli] synonym: "parencephalon" RELATED LATIN [NeuroNames:643] xref: AAO:0010485 xref: BAMS:CB xref: BAMS:Cb xref: BIRNLEX:1489 xref: BM:CB xref: BTO:0000232 xref: CALOHA:TS-0125 xref: DHBA:10656 xref: EFO:0000327 xref: EHDAA2:0000232 xref: EMAPA:17787 xref: EV:0100293 xref: FMA:67944 xref: GAID:595 xref: HBA:4696 xref: MA:0000198 xref: MAT:0000110 xref: MBA:512 xref: MESH:D002531 xref: MIAA:0000110 xref: NCIT:C12445 xref: neuronames:643 {source="BIRNLEX:1489"} xref: SCTID:180924008 xref: TAO:0000100 xref: UMLS:C0007765 {source="BIRNLEX:1489", source="ncithesaurus:Cerebellum"} xref: UMLS:C1268981 {source="BIRNLEX:1489"} xref: VHOG:0000024 xref: Wikipedia:Cerebellum xref: XAO:0003098 xref: ZFA:0000100 is_a: UBERON:0000061 ! anatomical structure relationship: never_in_taxon NCBITaxon:117565 {source="ISBN:0471888893"} relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0002028 ! hindbrain relationship: RO:0002174 NCBITaxon:117569 {source="http://icb.oxfordjournals.org/content/42/4/743.full"} ! dubious_for_taxon property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/a/a7/Cerebellum_NIH.png xsd:anyURI property_value: external_definition "Dorsal part of the hindbrain that coordinates muscle movement, posture, and balance.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010485", ontology="AAO", source="AAO:BJB"} property_value: external_definition "Specialized brain region derived from the dorsal metencephalon (anterior hindbrain, and perhaps including posterior midbrain) and becoming distinctive late in the segmentation period. Kimmel et al, 1995.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000100", ontology="TAO", source="ZFIN:curator"} property_value: has_relational_adjective "cerebellar" xsd:string property_value: homology_notes "However, although the lamprey possesses a region comparable to the cerebellum and display expression of LjFgf8/17 at the MHB (midbrain hindbrain boundary), it does not have Purkinje cells and cerebellar nuclei, as well as components of the rhombic lip-derived cerebellar and pre-cerebellar systems. It is noteworthy that the latter structures require specific expression of Pax6 in the rhombic lip of the gnathostome hindbrain. Interestingly, the lamprey rhombic lip does not express Pax6. Thus, it is tempting to speculate that in vertebrate evolution the rostral hindbrain is incapable of differentiating into the cerebellum before the co-option of Pax6 in that region. In other words, cerebellum has been brought about as an evolutionary innovation in gnathostomes, based on exaptation of MHB, rhombic lip, and some regulatory gene expression already present in the vertebrate common ancestor.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000024", ontology="VHOG", source="DOI:10.1016/j.ydbio.2005.02.008 Murakami Y, Uchida K, Rijli FM and Kuratani S, Evolution of the brain developmental plan: Insights from agnathans. Developmental Biology (2005)", source="http://bgee.unil.ch/"} property_value: RO:0002171 UBERON:0001893 {source="ABA"} property_value: RO:0002171 UBERON:0002298 {exceptions="ZFA", source="ABA", source="https://github.com/obophenotype/uberon/issues/378", status="pending"} property_value: RO:0002175 NCBITaxon:117569 {source="ISBN:0471888893"} property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "The absence of a cerebellum in hagfishes and lampreys appears to be the only exception [to the rule that vertebrates possess the same number of brain divisions]. Both hagfishes and lampreys do possess a thin band of cells located medial to the lateral line centers of the medulla (Ronan and Northcutt, 1998), which has been interpreted as a primitive cerebellum (Larsell, 1967), but more recent experimental studies (Kishida et al., 1987; Weigle and Northcutt, 1998) fail to support Larsell's claim[http://icb.oxfordjournals.org/content/42/4/743.full]" xsd:string property_value: UBPROP:0000012 "almost all AOs agree that the cerebellum is part of the hindbrain (sometimes specifically part of the metencephalon, which, when present, is part of the hindbrain). However, ABA has cerebellum and brain stem as partof siblings, with the hindbrain part of the brainstem" xsd:string {external_ontology="ABA"} [Term] id: UBERON:0002038 name: substantia nigra namespace: uberon def: "Predominantly gray matter midbrain structure lying dorsal to the crus cerebri and ventral to the midbrain tegmentum. It is divided into a dorsal, cellularly compact region known as the pars compacta and a more ventrally located, containing more loosely packed cells, the pars reticulata. The most lateral region of the reticulata is identified as the pars lateralis (MM)." [BIRNLEX:789] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "nucleus of basis pedunculi" EXACT [] synonym: "nucleus pigmentosus subthalamo-peduncularis" RELATED LATIN [NeuroNames:536] synonym: "SN" BROAD ABBREVIATION [BIRNLEX:789, NIFSTD:NeuroNames_abbrevSource] synonym: "Soemmering's substance" EXACT [] synonym: "substancia nigra" RELATED [Wikipedia:Substantia_nigra] synonym: "substantia nigra (Soemmerringi)" RELATED LATIN [NeuroNames:536] xref: BAMS:SN xref: BIRNLEX:789 xref: BTO:0000143 xref: CALOHA:TS-0990 xref: DHBA:12251 xref: EFO:0000922 xref: EHDAA2:0004711 xref: EMAPA:35835 xref: EV:0100247 xref: FMA:67947 xref: GAID:581 xref: HBA:9072 xref: MA:0000210 xref: MAT:0000504 xref: MESH:D013378 xref: NCIT:C12453 xref: neuronames:536 {source="BIRNLEX:789"} xref: SCTID:279286002 xref: UMLS:C0038590 {source="BIRNLEX:789", source="ncithesaurus:Substantia_Nigra"} xref: UMLS:C1269578 {source="BIRNLEX:789"} xref: VHOG:0001573 xref: Wikipedia:Substantia_nigra is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001017 ! central nervous system relationship: part_of UBERON:0001891 ! midbrain relationship: part_of UBERON:0002420 ! basal ganglion property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/5/5f/Midbraincrosssection.png xsd:anyURI property_value: external_definition "Subdivision of the midbrain anterior to the midbrain tegmentum which contains darkly pigmented neurons[FMA][FMA:67947]." xsd:string {source="FMA:67947"} property_value: homology_notes "(...) the substantia nigra first appears in reptiles and is best developed in primates.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001573", ontology="VHOG", source="ISBN:978-0471090588 Hildebrand M, Analysis of vertebrate structure (1983) p.336", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "TODO - In BTO and NIF, part of basal ganglion which is part of telencephalon - but this is inconsistent with being part of midbrain, if these are spatially disjoint, as in ABA" xsd:string property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0002043 name: dorsal raphe nucleus namespace: uberon def: "A large raphe nucleus extending from the anterior part of the pons through the mesencephalon; its neurons are serotoninergic[NIF]. The dorsal raphe nucleus is a part of the raphe nucleus and consists of rostral and caudal subdivisions. The rostral aspect of the dorsal raphe is further divided into interfascicular, ventral, ventrolateral and dorsal subnuclei. The projections of the dorsal raphe have been found to vary topographically, and thus the subnuclei differ in their projections. An increased number of cells in the lateral aspects of the dorsal raphe is characteristic of humans and other primates. [WP,unvetted]." [BIRNLEX:982, https://sourceforge.net/tracker/?func=detail&atid=440764&aid=3248146&group_id=36855, Wikipedia:Dorsal_raphe_nucleus] subset: efo_slim subset: uberon_slim subset: vertebrate_core synonym: "cell group b7" EXACT [FMA:68462] synonym: "dorsal nucleus of the raphe" EXACT [BrainInfo:512, FMA:68462] synonym: "dorsal nucleus raphe" EXACT [FMA:68462] synonym: "dorsal raphe" EXACT [BIRNLEX:982] synonym: "dorsal raphé" RELATED [BAMS:DR] synonym: "DR" BROAD ABBREVIATION [BIRNLEX:982, NIFSTD:NeuroNames_abbrevSource] synonym: "DRN" BROAD ABBREVIATION [BIRNLEX:982, NIFSTD:NeuroNames_abbrevSource] synonym: "inferior raphe nucleus" EXACT [GO:0021724] synonym: "nucleus dorsalis raphes" RELATED LATIN [NeuroNames:512] synonym: "nucleus raphe dorsalis" RELATED LATIN [Wikipedia:Dorsal_raphe_nucleus] synonym: "nucleus raphe posterior" RELATED LATIN [Wikipedia:Dorsal_raphe_nucleus] synonym: "nucleus raphes dorsalis" EXACT [BrainInfo:512, BTO:0002434] synonym: "nucleus raphes posterior" EXACT LATIN [FMA:TA] synonym: "nucleus raphes posterior" RELATED [BTO:0002434] synonym: "posterior raphe nucleus" EXACT [FMA:68462] synonym: "posterior raphe nucleus" RELATED [GO:0021724] xref: BAMS:DR xref: BIRNLEX:982 xref: BM:MB-DR xref: BTO:0002434 xref: DHBA:12223 xref: EFO:0001919 xref: EMAPA:35293 xref: FMA:68462 xref: HBA:9457 xref: MA:0002980 xref: MBA:872 xref: MESH:D065847 xref: neuronames:512 {source="BIRNLEX:982"} xref: TAO:0000366 xref: UMLS:C0175392 {source="BIRNLEX:982"} xref: Wikipedia:Dorsal_raphe_nucleus xref: ZFA:0000366 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001017 ! central nervous system relationship: part_of UBERON:0001891 ! midbrain relationship: part_of UBERON:0002298 ! brainstem property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/c/c6/Drn.png xsd:anyURI property_value: depicted:by http://upload.wikimedia.org/wikipedia/en/thumb/c/c6/Drn.png/200px-Drn.png xsd:anyURI property_value: IAO:0000116 "TODO check dorsal vs inferior. ZF has no pons." xsd:string property_value: RO:0002171 UBERON:0002145 {source="ABA"} [Term] id: UBERON:0002046 name: thyroid gland namespace: uberon def: "A two-lobed endocrine gland found in all vertebrates, located in front of and on either side of the trachea in humans, and producing various hormones, such as triiodothyronine and calcitonin[BTO]." [BTO:0001379, Wikipedia:Thyroid] subset: efo_slim subset: organ_slim subset: pheno_slim subset: uberon_slim synonym: "glandula thyroidea" RELATED LATIN [Wikipedia:Thyroid] synonym: "thyroid" EXACT [] xref: AAO:0010544 xref: BTO:0001379 xref: CALOHA:TS-1047 xref: EFO:0000861 xref: EHDAA2:0002028 xref: EHDAA:2148 xref: EHDAA:2975 xref: EMAPA:17068 xref: EV:0100133 xref: FMA:9603 xref: GAID:465 xref: galen:ThyroidGland xref: MA:0000129 xref: MAT:0000081 xref: MESH:D013961 xref: MIAA:0000081 xref: NCIT:C12400 xref: SCTID:181117000 xref: UMLS:C0040132 {source="ncithesaurus:Thyroid_Gland"} xref: VHOG:0000418 xref: Wikipedia:Thyroid xref: XAO:0000162 is_a: UBERON:0002368 ! endocrine gland relationship: part_of UBERON:0000949 ! endocrine system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/a/a3/Illu_thyroid_parathyroid.jpg xsd:anyURI property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/c/c6/Illu_endocrine_system.jpg xsd:anyURI property_value: external_definition "Either of paired structures located in the throat which develop from the ventral wall of the pharynx and excretes hormones involved in the morphological and functional changes during metamorphosis as well as influencing other tissues.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010544", ontology="AAO", source="AAO:BJB"} property_value: homology_notes "(...) at some stage of its development, every chordate exhibits five uniquely derived characters or synapomorphies of the group: (...) (2) a groove in the pharyngeal floor known as the endostyle, or a thyroid gland derived from part of the endostyle (...).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000418", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.28", source="http://bgee.unil.ch/"} property_value: taxon_notes "In fish, it is usually located below the gills and is not always divided into distinct lobes. However, in some teleosts, patches of thyroid tissue are found elsewhere in the body, associated with the kidneys, spleen, heart, or eyes" xsd:string {scope="NCBITaxon:32443", source="Romer", source="Wikipedia:Thyroid_gland#Other_animals"} property_value: taxon_notes "In larval lampreys, the thyroid originates as an exocrine gland, secreting its hormones into the gut, and associated with the larva's filter-feeding apparatus. In the adult lamprey, the gland separates from the gut, and becomes endocrine, but this path of development may reflect the evolutionary origin of the thyroid. For instance, the closest living relatives of vertebrates, the tunicates and Amphioxus, have a structure very similar to that of larval lampreys, and this also secretes iodine-containing compounds (albeit not thyroxine)" xsd:string {scope="NCBITaxon:7746", source="Romer", source="Wikipedia:Thyroid_gland#Other_animals"} property_value: taxon_notes "In tetrapods, the thyroid is always found somewhere in the neck region. In most tetrapod species, there are two paired thyroid glands - that is, the right and left lobes are not joined together. However, there is only ever a single thyroid gland in most mammals, and the shape found in humans is common to many other species" xsd:string {scope="NCBITaxon:32523", source="Romer", source="Wikipedia:Thyroid_gland#Other_animals"} [Term] id: UBERON:0002048 name: lung namespace: uberon def: "Respiration organ that develops as an outpocketing of the esophagus." [http://orcid.org/0000-0002-6601-2165] comment: Snakes and limbless lizards typically possess only the right lung as a major respiratory organ; the left lung is greatly reduced, or even absent. Amphisbaenians, however, have the opposite arrangement, with a major left lung, and a reduced or absent right lung [WP] subset: efo_slim subset: human_reference_atlas subset: major_organ subset: organ_slim subset: pheno_slim subset: uberon_slim synonym: "pulmo" EXACT LATIN [] xref: AAO:0000275 xref: AAO:0010567 xref: BTO:0000763 xref: CALOHA:TS-0568 xref: EFO:0000934 xref: EHDAA2:0001042 xref: EHDAA:1554 xref: EHDAA:2205 xref: EMAPA:16728 xref: EV:0100042 xref: FMA:7195 xref: GAID:345 xref: galen:Lung xref: MA:0000415 xref: MAT:0000135 xref: MESH:D008168 xref: MIAA:0000135 xref: NCIT:C12468 xref: SCTID:181216001 xref: UMLS:C0024109 {source="ncithesaurus:Lung"} xref: VHOG:0000310 xref: Wikipedia:Lung xref: XAO:0000119 is_a: UBERON:0000061 ! anatomical structure relationship: never_in_taxon NCBITaxon:32443 {editor="https://orcid.org/0000-0002-9415-5104", source="https://github.com/obophenotype/uberon/issues/701"} relationship: never_in_taxon NCBITaxon:7777 {editor="https://orcid.org/0000-0002-9415-5104", source="https://github.com/obophenotype/uberon/issues/701"} relationship: part_of UBERON:0000065 ! respiratory tract relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0000915 ! thoracic segment of trunk relationship: part_of UBERON:0001004 ! respiratory system relationship: part_of UBERON:0002100 ! trunk property_value: external_definition "Either of two organs which allow gas exchange absorbing oxygen from inhaled air and releasing carbon dioxide with exhaled air.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010567", ontology="AAO", source="AAO:SBH"} property_value: has_relational_adjective "pulmonary" xsd:string property_value: homology_notes "Lungs had already developed as paired ventral pockets from the intestine in the ancestor of Osteognathostomata. (...) In actinopterygian fishes, apart from Cladistia, the ventral intestinal pocket migrates dorsally and becomes the swim-bladder, a mainly hydrostatical organ (reference 1); Comparative transcriptome analyses indicate molecular homology of zebrafish swimbladder and Mammalian lung (reference 2).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000310", ontology="VHOG", source="ISBN:978-0198566694 Schmidt-Rhaesa A, The evolution of organ systems (2007) p.210, DOI:10.1371/journal.pone.0024019 Zheng W, Wang Z, Collins JE, Andrews RM, Stemple D, Gong Z, Comparative transcriptome analyses indicate molecular homology of zebrafish swimbladder and Mammalian lung. PLoS One (2011)", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 property_value: seeAlso https://github.com/obophenotype/uberon/issues/701 xsd:anyURI property_value: taxon_notes "respiration organ in all air-breathing animals, including most tetrapods, a few fish and a few snails. In mammals and the more complex life forms, the two lungs are located in the chest on either side of the heart. Their principal function is to transport oxygen from the atmosphere into the bloodstream, and to release carbon dioxide from the bloodstream into the atmosphere. This exchange of gases is accomplished in the mosaic of specialized cells that form millions of tiny, exceptionally thin-walled air sacs called alveoli. // Avian lungs do not have alveoli as mammalian lungs do, they have Faveolar lungs. They contain millions of tiny passages known as para-bronchi, connected at both ends by the dorsobronchi" xsd:string [Term] id: UBERON:0002049 name: vasculature namespace: uberon def: "An interconnected tubular multi-tissue structure contains fluid that is actively transported around the organism[ZFA]. Examples: vasculature of lung, vasculature of face." [ZFA:0005249] subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "vascular network" EXACT [FMA:69050] xref: BTO:0003718 xref: FMA:69050 xref: TAO:0005249 xref: ZFA:0005249 is_a: UBERON:0001062 ! anatomical entity property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/2/29/Circulatory_System_en.svg xsd:anyURI property_value: has_relational_adjective "vascular" xsd:string property_value: IAO:0000116 "see also: vascular system. Consider merging?" xsd:string property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0002050 name: embryonic structure namespace: uberon def: "Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator] subset: efo_slim subset: inconsistent_with_fma subset: vertebrate_core synonym: "developing embryonic structure" EXACT [FBbt:00004208] synonym: "developing structure" RELATED [] synonym: "embryonale Struktur" RELATED [BTO:0000174] synonym: "embryonic anatomical structure" EXACT [RETIRED_EHDAA2:0003169] synonym: "embryonic structures" RELATED PLURAL [ZFA:0001105] xref: AAO:0000138 xref: BILA:0000034 xref: BTO:0000174 xref: CALOHA:TS-2110 xref: EFO:0000461 xref: FBbt:00004208 xref: FMA:69067 xref: GAID:407 xref: MESH:D004628 xref: NCIT:C13229 xref: RETIRED_EHDAA2:0003169 xref: SCTID:667009 xref: TAO:0001105 xref: UMLS:C0013948 {source="ncithesaurus:Embryonic_Structure"} xref: VSAO:0000178 xref: XAO:0003042 xref: ZFA:0001105 is_a: UBERON:0001062 ! anatomical entity relationship: part_of UBERON:0000922 ! embryo property_value: external_definition "Anatomical structure that is part of the embryo and is comprised of portions of tissue or cells.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000138", ontology="AAO", source="AAO:BJB"} property_value: external_definition "Anatomical structure that is part of the embryo and is comprised of portions of tissue or cells.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0001105", ontology="TAO", source="ZFIN:curator"} property_value: external_definition "Anatomical structure that is part of the embryo and is comprised of portions of tissue or cells.[VSAO]" xsd:string {date_retrieved="2012-08-14", external_class="VSAO:0000178", ontology="VSAO", source="ZFIN:curator"} property_value: UBPROP:0000012 "in FMA embryo is_a embryonic structure" xsd:string {external_ontology="FMA"} [Term] id: UBERON:0002051 name: epithelium of bronchiole namespace: uberon def: "An epithelium that is part of a bronchiole [Automatically generated definition]." [OBOL:automatic] subset: human_reference_atlas subset: pheno_slim synonym: "bronchiolar epithelium" EXACT [BTO:0001866] synonym: "bronchiole epithelial tissue" EXACT [OBOL:automatic] synonym: "bronchiole epithelium" EXACT [] synonym: "epithelial tissue of bronchiole" EXACT [OBOL:automatic] xref: BTO:0001866 xref: CALOHA:TS-0570 xref: EMAPA:32693 xref: FMA:69077 xref: MA:0001772 xref: NCIT:C48942 xref: UMLS:C1181296 {source="ncithesaurus:Bronchiole_Epithelium"} is_a: UBERON:0000115 ! lung epithelium intersection_of: UBERON:0000483 ! epithelium intersection_of: part_of UBERON:0002186 ! bronchiole relationship: part_of UBERON:0000065 ! respiratory tract relationship: part_of UBERON:0000344 ! mucosa relationship: part_of UBERON:0001004 ! respiratory system relationship: part_of UBERON:0002186 ! bronchiole property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-6677-8489 property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0002058 name: main ciliary ganglion namespace: uberon def: "A parasympathetic ganglion located in the posterior orbit that contains preganglionic nerves and postganglionic neurons of the oculomotor nerve, connects to the Edinger-Westphal nucleus via the oculomotor nerve and the eye muscles via the short ciliary nerve." [UBERON:cjm, Wikipedia:Ciliary_ganglion] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "ciliary ganglion" EXACT [MA:0001136] synonym: "ganglion ciliare" RELATED LATIN [Wikipedia:Ciliary_ganglion] xref: BAMS:GcIII xref: EFO:0002559 xref: EHDAA2:0000251 xref: EHDAA:5623 xref: EMAPA:18222 xref: FMA:6964 xref: MA:0001136 xref: NLXANAT:100304 xref: SCTID:279281007 xref: VHOG:0000805 xref: Wikipedia:Ciliary_ganglion is_a: UBERON:0001714 ! cranial ganglion relationship: part_of UBERON:0000010 ! peripheral nervous system relationship: part_of UBERON:0000011 ! parasympathetic nervous system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/3/30/Augennerven.jpg xsd:anyURI property_value: external_definition "The ciliary ganglion is a parasympathetic ganglion located in the posterior orbit. It measures 1-2 millimeters in diameter and contains approximately 2,500 neurons. Preganglionic axons from the Edinger-Westphal nucleus form synapses with these cells. The postganglionic axons run in the short ciliary nerves and innervate two eye muscles: the sphincter pupillae constricts the pupil, known as Miosis. The opposite, Mydriasis, is the dilation of the pupil. the ciliaris muscle contracts, releasing tension on the Zonular Fibers, making the lens more convex, also known as accommodation. Both of these muscles are involuntary - they are controlled by the autonomic nervous system. It is one of four parasympathetic ganglia of the head and neck.. [WP,unvetted][Wikipedia:Ciliary_ganglion]." xsd:string {source="Wikipedia:Ciliary_ganglion"} property_value: homology_notes "Little is known about the development of parasympathetic neurons apart from the ciliary ganglion in chicks. Although there are considerable gaps in our knowledge, some of the mechanisms controlling sympathetic and enteric neuron development appear to be conserved between mammals, avians and zebrafish.[uncertain][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000805", ontology="VHOG", source="DOI:10.1016/j.autneu.2010.03.002 Young HM, Cane KN, Anderson CR, Development of the autonomic nervous system: A comparative view. Autonomic Neuroscience : basic and clinical (2010)", source="http://bgee.unil.ch/"} property_value: IAO:0000232 "the main ciliary ganglion (typically just called the ciliary ganglion) is differentiated from the accessory by connection to the oculomotor nerve." xsd:string [Term] id: UBERON:0002060 name: femoral artery namespace: uberon def: "The femoral artery is a large artery in the muscles of the thigh. It is a continuation of external iliac artery where it enters the femoral triangle at the mid inguinal point behind the inguinal ligament. It leaves femoral triangle through apex beneath the sartorius muscle. It enters the popliteal fossa by passing through the 5th osseo-aponeurotic(adductor hiatus) opening of adductor magnus where it becomes the Popliteal Artery. [WP,unvetted]." [Wikipedia:Femoral_artery] subset: uberon_slim synonym: "arteria femoralis" RELATED LATIN [Wikipedia:Femoral_artery] xref: AAO:0010222 xref: BTO:0001624 xref: CALOHA:TS-0321 xref: EMAPA:35342 xref: FMA:70248 xref: GAID:494 xref: galen:FemoralArtery xref: MA:0001951 xref: MESH:D005263 xref: NCIT:C12715 xref: SCTID:244332003 xref: UMLS:C0015801 {source="ncithesaurus:Femoral_Artery"} xref: Wikipedia:Femoral_artery is_a: UBERON:0001637 ! artery property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/7/7d/Gray546.png xsd:anyURI property_value: external_definition "Artery which supplies blood via branches to the hindlimbs.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010222", ontology="AAO", source="AAO:BJB"} [Term] id: UBERON:0002066 name: umbilical vein namespace: uberon def: "The umbilical vein is a blood vessel present during fetal development that carries oxygenated blood from the placenta to the growing fetus. [WP,unvetted]." [https://github.com/obophenotype/uberon/issues/328, Wikipedia:Umbilical_vein] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "vena umbilicalis" RELATED LATIN [Wikipedia:Umbilical_vein] xref: BTO:0001509 xref: CALOHA:TS-1082 xref: EFO:0001940 xref: EHDAA:1034 xref: EHDAA:488 xref: EMAPA:16243 xref: EMAPA:16375 xref: EV:0100392 xref: FMA:70317 xref: GAID:542 xref: MA:0002249 xref: MESH:D014471 xref: NCIT:C33830 xref: RETIRED_EHDAA2:0002107 xref: SCTID:367567000 xref: UMLS:C0041637 {source="ncithesaurus:Umbilical_Vein"} xref: Wikipedia:Umbilical_vein is_a: UBERON:0001638 ! vein relationship: part_of UBERON:0001987 ! placenta property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/e/ee/Gray502.png xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0002067 name: dermis namespace: uberon def: "The dermis is a layer of skin between the epidermis (with which it makes up the skin) and subcutaneous tissues, and is composed of two layers, the papillary and reticular dermis[WP]." [Wikipedia:Dermis, ZFIN:curator] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "corium" RELATED LATIN [BTO:0000294, Wikipedia:Dermis] synonym: "cutis" RELATED [BTO:0000294] synonym: "vertebrate dermis" EXACT [] xref: AAO:0000128 xref: BTO:0000294 xref: CALOHA:TS-2076 xref: EFO:0000953 xref: EMAPA:17527 xref: EV:0100154 xref: FMA:70323 xref: GAID:1321 xref: MA:0000152 xref: MAT:0000153 xref: MESH:D020405 xref: MIAA:0000153 xref: NCIT:C12701 xref: SCTID:361696001 xref: TAO:0001119 xref: UMLS:C0011646 {source="ncithesaurus:Dermis"} xref: VHOG:0000108 xref: Wikipedia:Dermis xref: XAO:0000217 xref: ZFA:0001119 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0002097 ! skin of body relationship: part_of UBERON:0002416 ! integumental system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/2/23/EpidermisPainted.svg xsd:anyURI property_value: external_definition "A collagenous layer of the skin subjacent to the epidermis and covering the hypodermis. It contains various types of cells (e.g. fibroblasts, pigment cells, nerve, blood vessels and scales. Le Guellec et al, 2004.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0001119", ontology="TAO", source="ZFIN:curator"} property_value: has_relational_adjective "dermal" xsd:string property_value: homology_notes "When approaching controversies surrounding skin evolution, we need to remember that the skin consists of two layers, an epidermis and a dermis, not a single evolving structure. (...) It is little wonder that controversies about homology exist. If we think of the epidermis, the dermis, and their interactions as an evolving unit, then their specialized products (hair, feathers, and reptilian scales) are broadly homologous.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000108", ontology="VHOG", source="ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.231-232 see also p.209 and p.228 and Figure 6-1", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "Consider adding a layer-of-skin grouping class for all skin layers" xsd:string property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0002073 name: hair follicle namespace: uberon def: "A tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open[GO]." [Wikipedia:Hair_follicle] comment: Development notes:Formation largely takes place during fetal and perinatal skin development. However, after skin wounding de novo hair follicle formation may also occur in adult mouse and rabbit skin[DOI:10.1016/j.cub.2008.12.005]. subset: efo_slim subset: human_reference_atlas subset: organ_slim subset: pheno_slim subset: uberon_slim synonym: "folliculus pili" RELATED LATIN [Wikipedia:Hair_follicle] xref: BTO:0000554 xref: CALOHA:TS-0432 xref: EFO:0002464 xref: EMAPA:18771 xref: EMAPA:29741 xref: EV:0100156 xref: FMA:70660 xref: GAID:934 xref: MA:0000154 xref: MESH:D018859 xref: NCIT:C13317 xref: SCTID:280830006 xref: UMLS:C0221971 {source="ncithesaurus:Hair_Follicle"} xref: VHOG:0001268 xref: Wikipedia:Hair_follicle is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000014 ! zone of skin relationship: part_of UBERON:0001003 ! skin epidermis property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/4/4d/Hair_follicle-en.svg xsd:anyURI property_value: homology_notes "The earliest reliable record of hair is found in a fossil of the Paleocene period, in which the structure of hair cuticles is preserved. Its appearance suggests that the complicated structure of the hair follicle, closely similar to that of present-day mammals, had already appeared at this time.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001268", ontology="VHOG", source="ISBN:978-4431998051 Morioka K, Hair follicle: differentiation under the electron microscope, An atlas (2005) p.3", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0002078 name: right cardiac atrium namespace: uberon def: "A cardiac atrium that is in the right side of the heart. It receives deoxygenated blood. In mammals, this comes from the superior and inferior vena cava and the coronary sinus, and pumps it into the right ventricle through the tricuspid valve." [http://orcid.org/0000-0002-6601-2165, Wikipedia:Right_atrium] subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "atrium dextrum" RELATED LATIN [Wikipedia:Right_atrium] synonym: "cardiac right atrium" EXACT [] synonym: "heart right atrium" EXACT [MA:0000075] synonym: "right atrium" EXACT [VHOG:0000328] synonym: "right atrium of heart" EXACT [] synonym: "right cardiac atrium" EXACT [] xref: AAO:0010248 xref: BTO:0001703 xref: EHDAA2:0000290 xref: EMAPA:17321 xref: FMA:7096 xref: galen:RightAtrium xref: MA:0000075 xref: NCIT:C12868 xref: SCTID:244383003 xref: UMLS:C0225844 {source="ncithesaurus:Right_Atrium"} xref: VHOG:0000328 xref: Wikipedia:Right_atrium xref: XAO:0003192 is_a: UBERON:0002081 ! cardiac atrium relationship: part_of UBERON:0000948 ! heart property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/2/20/Diagram_of_the_human_heart_%28cropped%29.svg xsd:anyURI property_value: external_definition "Right cardiac chamber which is continuous with the superior vena cava and inferior vena cava.[FMA]" xsd:string {source="FMA:7096"} property_value: homology_notes "The tetrapod clade develops a complete atrial septum and loses the fifth aortic arch altogether.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000328", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.620", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 property_value: UBPROP:0000006 https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern xsd:anyURI [Term] id: UBERON:0002079 name: left cardiac atrium namespace: uberon def: "A cardiac atrium that is in the left side of the heart. It receives oxygenated blood from the pulmonary veins, In mammals this is pumped into the left ventricle, via the Mitral valve." [http://orcid.org/0000-0002-6601-2165, Wikipedia:Left_atrium] subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "atrium sinistrum" EXACT LATIN [Wikipedia:Left_atrium] synonym: "cardiac left atrium" EXACT [] synonym: "heart left atrium" EXACT [MA:0000074] synonym: "left atrium" EXACT [VHOG:0000369] synonym: "left atrium of heart" EXACT [] synonym: "left cardiac atrium" EXACT [] xref: AAO:0010247 xref: BTO:0001702 xref: EHDAA2:0000275 xref: EMAPA:17315 xref: FMA:7097 xref: galen:LeftAtrium xref: MA:0000074 xref: NCIT:C12869 xref: SCTID:244387002 xref: UMLS:C0225860 {source="ncithesaurus:Left_Atrium"} xref: VHOG:0000369 xref: Wikipedia:Left_atrium xref: XAO:0003191 is_a: UBERON:0002081 ! cardiac atrium relationship: part_of UBERON:0000948 ! heart property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/2/20/Diagram_of_the_human_heart_%28cropped%29.svg xsd:anyURI property_value: external_definition "Left cardiac chamber which is continuous with the pulmonary venous trunk.[FMA]" xsd:string {source="FMA:7097"} property_value: external_definition "The chamber of the heart that receives blood from the lungs[XAO:EJS]." xsd:string {source="XAO:EJS"} property_value: homology_notes "The tetrapod clade develops a complete atrial septum and loses the fifth aortic arch altogether.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000369", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.620", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 property_value: UBPROP:0000006 https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern xsd:anyURI [Term] id: UBERON:0002080 name: heart right ventricle namespace: uberon def: "A cardiac ventricle that is in the right side of the heart." [http://orcid.org/0000-0002-6601-2165] subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "cardiac right ventricle" EXACT [] synonym: "right cardiac ventricle" RELATED [EMAPA:17340] synonym: "right ventricle" EXACT [FMA:7098] synonym: "right ventricle of heart" EXACT [] synonym: "ventriculus dexter" RELATED LATIN [Wikipedia:Right_ventricle] xref: BTO:0001630 xref: CALOHA:TS-0443 xref: EHDAA2:0000196 xref: EMAPA:17340 xref: FMA:7098 xref: galen:RightVentricle xref: MA:0000093 xref: NCIT:C12870 xref: SCTID:244384009 xref: UMLS:C0225883 {source="ncithesaurus:Right_Ventricle"} xref: VHOG:0000717 xref: Wikipedia:Right_ventricle is_a: UBERON:0002082 ! cardiac ventricle relationship: part_of UBERON:0000948 ! heart property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/2/20/Diagram_of_the_human_heart_%28cropped%29.svg xsd:anyURI property_value: external_definition "The muscular chamber on the right and in front of the left ventricle. It generally receives venous blood from the right atrium and conveys it into the pulmonary artery. [(1988)_Dorian_AF, Amsterdam, Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B._Anatomy, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier's_Encyclopaedic_Dictionary_of_Medicine][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000717", ontology="VHOG", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "In mammals continuous with the pulmonary arteries" xsd:string property_value: UBPROP:0000006 https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern xsd:anyURI [Term] id: UBERON:0002081 name: cardiac atrium namespace: uberon def: "Cardiac chamber in which blood enters the heart." [http://orcid.org/0000-0002-6601-2165, Wikipedia:Heart_atrium] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "atria" EXACT PLURAL [] synonym: "atrial tissue" RELATED [BTO:0000903] synonym: "atrium" EXACT [ZFA:0000471] synonym: "atrium of heart" EXACT [] synonym: "cardiac atria" EXACT PLURAL [] synonym: "heart atrium" EXACT [] xref: AAO:0010246 xref: BTO:0000903 xref: CALOHA:TS-0437 xref: EFO:0000277 xref: EHDAA2:0000154 xref: EHDAA:1265 xref: EMAPA:16688 xref: EV:0100019 xref: FMA:7099 xref: GAID:555 xref: galen:Atrium xref: MA:0000073 xref: MAT:0000496 xref: MESH:D006325 xref: NCIT:C12728 xref: SCTID:261405004 xref: TAO:0000471 xref: UMLS:C0018792 {source="ncithesaurus:Cardiac_Atrium"} xref: VHOG:0000175 xref: Wikipedia:Heart_atrium xref: ZFA:0000471 is_a: EFO:0001955 ! heart component relationship: part_of UBERON:0000948 ! heart property_value: external_definition "One of four heart chambers.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000471", ontology="TAO", source="ZFIN:curator"} property_value: external_definition "One of two chambers of the heart which receive blood from the veins and forces it by muscular contration to the ventricle.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010246", ontology="AAO", source="AAO:BJB"} property_value: homology_notes "In the primitive vertebrate heart the four chambers are: 1. Sinus venosus (...) 2. Atrium (...) 3. Ventricle (...) 4. Conus arteriosus (...).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000175", ontology="VHOG", source="ISBN:978-0721676678 Romer AS, Vertebrate body (1970) p.428", source="http://bgee.unil.ch/"} [Term] id: UBERON:0002082 name: cardiac ventricle namespace: uberon def: "Cardiac chamber through which blood leaves the heart." [http://orcid.org/0000-0002-6601-2165, Wikipedia:Ventricle_(heart)] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "heart ventricle" EXACT [] synonym: "lower chamber of heart" EXACT [] synonym: "ventricle" BROAD [] synonym: "ventricle of heart" EXACT [] xref: AAO:0010249 xref: BTO:0000862 xref: CALOHA:TS-0444 xref: EFO:0000317 xref: EHDAA2:0004164 xref: EHDAA:1912 xref: EMAPA:17331 xref: EV:0100020 xref: FMA:7100 xref: GAID:568 xref: galen:Ventricle xref: MA:0000091 xref: MAT:0000497 xref: MESH:D006352 xref: NCIT:C12730 xref: SCTID:277699000 xref: TAO:0000009 xref: UMLS:C0018827 {source="ncithesaurus:Cardiac_Ventricle"} xref: VHOG:0000435 xref: Wikipedia:Ventricle_(heart) xref: XAO:0003193 xref: ZFA:0000009 is_a: EFO:0001955 ! heart component relationship: part_of UBERON:0000948 ! heart property_value: external_definition "A chamber of the heart that receives blood from one or more atria and pumps it by muscular contraction into the arteries.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010249", ontology="AAO", source="AAO:BJB"} property_value: external_definition "One of four heart chambers.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000009", ontology="TAO", source="ZFIN:curator"} property_value: homology_notes "In the primitive vertebrate heart the four chambers are: 1. Sinus venosus (...) 2. Atrium (...) 3. Ventricle (...) 4. Conus arteriosus (...)[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000435", ontology="VHOG", source="ISBN:978-0721676678 Romer AS, Vertebrate body (1970) p.428", source="http://bgee.unil.ch/"} [Term] id: UBERON:0002084 name: heart left ventricle namespace: uberon def: "A cardiac ventricle that is in the left side of the heart." [http://orcid.org/0000-0002-6601-2165] subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "cardiac left ventricle" EXACT [] synonym: "left cardiac ventricle" EXACT [] synonym: "left ventricle" EXACT [FMA:7101] synonym: "left ventricle of heart" EXACT [] synonym: "ventriculus sinister cordis" RELATED LATIN [Wikipedia:Left_ventricle] xref: BTO:0001629 xref: CALOHA:TS-0439 xref: EHDAA2:0002178 xref: EMAPA:17337 xref: FMA:7101 xref: galen:LeftVentricle xref: MA:0000092 xref: NCIT:C12871 xref: SCTID:244385005 xref: UMLS:C0225897 {source="ncithesaurus:Left_Ventricle"} xref: VHOG:0000718 xref: Wikipedia:Left_ventricle is_a: UBERON:0002082 ! cardiac ventricle relationship: part_of UBERON:0000948 ! heart property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/2/20/Diagram_of_the_human_heart_%28cropped%29.svg xsd:anyURI property_value: external_definition "Thick-walled muscular chamber constituting the left border and apex of the heart. It receives oxygenated blood from the left atrium through the mitral orifice and send it off into the aorta. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000718", ontology="VHOG", source="http://bgee.unil.ch/"} property_value: homology_notes "The vertebrate heart initially forms as a tube from a population of precursor cells termed the first heart field (FHF). Cells from the adjacent second heart field (SHF) are then progressively added to the developing heart. In avian and mammalian hearts, the FHF contributes mainly to the left ventricle, whereas the SHF gives rise to the outflow tract and large portions of the right ventricle and atria. Both fields arise from common mesodermal progenitors, although the detailed lineage relationships between FHF and SHF remain uncertain.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000718", ontology="VHOG", source="DOI:10.1126/science.1190181 Stolfi A, Gainous TB, Young JJ, Mori A, Levine M, Christiaen L, Early chordate origins of the vertebrate second heart field. Science (2010)", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "In mammals continuous with aorta" xsd:string property_value: UBPROP:0000006 https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern xsd:anyURI [Term] id: UBERON:0002090 name: postcranial axial skeleton namespace: uberon def: "The postcranial subdivision of skeleton structural components forming the long axis of the vertebrate body; in Danio, consisting of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins; in human consists of the bones of the vertebral column, the thoracic cage and the pelvis[ZFA+FMA]." [https://sourceforge.net/tracker/?func=detail&aid=2983975&group_id=76834&atid=974957, https://sourceforge.net/tracker/?func=detail&atid=1205376&aid=2983977&group_id=76834, ZFA:0000317] comment: previous some AOs had used the term 'axial skeleton' to include the skull. This is being resolved (see tracker items above). Status: MA - fixed. subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "axial skeleton" BROAD [FMA:71221, https://github.com/obophenotype/uberon/wiki/The-axial-skeleton] synonym: "post-cranial axial skeleton" EXACT [] xref: AAO:0000034 xref: EFO:0000942 xref: EHDAA2:0000161 xref: EHDAA:5049 xref: EMAPA:17214 xref: EMAPA:37721 {source="MA:th"} xref: FMA:71221 xref: MA:0002986 xref: MAT:0000148 xref: MIAA:0000148 xref: TAO:0000317 xref: VHOG:0000317 xref: VSAO:0000093 xref: XAO:0003073 xref: ZFA:0000317 is_a: EFO:0003858 ! skeleton structure relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0004288 ! skeleton property_value: external_definition "Skeletal subdivision of the central body axis including vertebrae, notochord, ribs, and sternum.[VSAO]" xsd:string {date_retrieved="2012-08-14", external_class="VSAO:0000093", ontology="VSAO", source="PSPUB:0000170"} property_value: external_definition "The axial skeleton is formed by the vertebral column, a metameric, semi-flexible, arched bar located in the dorsal part of the trunk, and is formed by a series of cartilaginous or bony vertebrae. It provides suspension for the appendicular skeleton and protection for the spinal nerve cord.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000034", ontology="AAO", source="AAO:LAP"} property_value: external_definition "The post-cranial structural components forming the long axis of the vertebrate body; usually consists of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000317", ontology="TAO", source="ZFIN:curator"} property_value: homology_notes "The axial musculoskeletal system represents the plesiomorphic locomotor engine of the vertebrate body, playing a central role in locomotion. In craniates, the evolution of the postcranial skeleton is characterized by two major transformations. First, the axial skeleton became increasingly functionally and morphologically regionalized. Second, the axial-based locomotion plesiomorphic for craniates became progressively appendage-based with the evolution of extremities in tetrapods.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000317", ontology="VHOG", source="DOI:10.1186/1742-9994-8-4 Schilling N, Evolution of the axial system in craniates: morphology and function of the perivertebral musculature. Frontiers in Zoology (2011)", source="http://bgee.unil.ch/"} property_value: seeAlso http://purl.obolibrary.org/obo/uberon/docs/The-axial-skeleton xsd:anyURI [Term] id: UBERON:0002091 name: appendicular skeleton namespace: uberon def: "Subdivision of skeleton which which consists of all the skeletal elements in in the pectoral and pelvic appendage complexes[cjm]." [https://orcid.org/0000-0002-6601-2165, UBERONREF:0000003, Wikipedia:Appendicular_skeleton] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "appendicular skeleton" EXACT [] synonym: "entire appendicular skeleton" EXACT [https://github.com/obophenotype/uberon/issues/59] synonym: "paired fin skeleton" NARROW SENSU [] synonym: "skeleton appendiculare" RELATED LATIN [Wikipedia:Appendicular_skeleton] xref: AAO:0000747 xref: EFO:0000951 xref: EMAPA:32729 xref: FMA:71222 xref: MA:0000290 xref: MAT:0000278 xref: MIAA:0000278 xref: NCIT:C49477 xref: SCTID:322050006 xref: UMLS:C0222646 {source="ncithesaurus:Appendicular_Skeleton"} xref: VHOG:0001666 xref: VSAO:0000076 xref: Wikipedia:Appendicular_skeleton xref: XAO:0003166 is_a: EFO:0003858 ! skeleton structure relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0004288 ! skeleton property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/7/7c/Appendicular_skeleton_diagram.svg xsd:anyURI property_value: external_definition "Skeletal subdivision consisting of all the skeletal elements in the pectoral and pelvic appendage complexes.[VSAO]" xsd:string {date_retrieved="2012-08-14", external_class="VSAO:0000076", ontology="VSAO", source="PSPUB:0000170", source="https://orcid.org/0000-0002-6601-2165"} property_value: external_definition "Skeletal system that consists of the paired fins (pectoral or pelvic fins).[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000027", ontology="TAO", source="TAO:wd"} property_value: external_definition "The pectoral and pelvic girdles, which articulate with the axial skeleton, together with their associated limbs, the forelimbs and hind limbs, form the appendicular skeleton.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000747", ontology="AAO", source="AAO:LAP"} property_value: RO:0002175 NCBITaxon:9606 property_value: seeAlso https://github.com/obophenotype/uberon/wiki/Appendages-and-the-appendicular-skeleton xsd:anyURI property_value: UBPROP:0000012 "ontologies differ in whether they treat the term appendicular skeleton as being the entire set of bones in the limbs, or whether the fore and hind limbs/fins are treated as seperate appendicular skeletons. Here we follow FMA, and treat the appendicular skeleton as the sum total of skeletal elements in the organism (this is evidenced by the fact that in FMA, skeleton of left/right upper/lower limb is part_of a appendicular skeleton, and subtypes of 'subdivision of appendicular skeleton'). We have separate classes such as 'skeleton of limb', and 'skeleton of hindlimb' for the 4 parts of the appendicular skeleton. In future the ZFA/TAO classes may be moved." xsd:string {external_ontology="FMA"} [Term] id: UBERON:0002094 name: interventricular septum namespace: uberon def: "Cardiac septum which separates the right ventricle from the left ventricle.[FMA]." [FMA:7133] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "heart interventricular septum" EXACT [MA:0000085] synonym: "heart ventricular septum" EXACT [MA:0000085] synonym: "interventricular septum of heart" RELATED [BTO:0002483] synonym: "interventriculare cordis" RELATED [BTO:0002483] synonym: "intraventricular septum" RELATED [Wikipedia:Interventricular_septum] synonym: "s. interventriculare cordis" RELATED LATIN [Wikipedia:Interventricular_septum] synonym: "septum inferius" RELATED [Wikipedia:Interventricular_septum] synonym: "septum membranaceum" RELATED [Wikipedia:Interventricular_septum] synonym: "ventricle septum" RELATED [] synonym: "ventricular septum" RELATED [MA:0000085, Wikipedia:Interventricular_septum] xref: BTO:0002483 xref: EFO:0001956 xref: EHDAA:2603 xref: EMAPA:17333 xref: FMA:7133 xref: galen:InterventricularSeptum xref: MA:0000085 xref: NCIT:C32874 xref: SCTID:362019005 xref: UMLS:C0225870 {source="ncithesaurus:Interventricular_Septum"} xref: VHOG:0000386 xref: Wikipedia:Interventricular_septum is_a: EFO:0001955 ! heart component relationship: part_of UBERON:0000948 ! heart property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/9/96/Gray498.png xsd:anyURI property_value: external_definition "The partition separating the right and left ventricles of the heart. [TFD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000386", ontology="VHOG", source="http://bgee.unil.ch/", source="http://medical-dictionary.thefreedictionary.com/interventricular+septum"} property_value: homology_notes "The two most progressive vertebrate classes, the birds and mammals, have completed the ventricular septum and at long last have completely separated the two blood streams along the length of the major heart chambers. This development has obviously been brought about independently in the two cases, since mammals and birds have evolved independently from primitive reptiles.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000386", ontology="VHOG", source="ISBN:978-0721676678 Romer AS, Vertebrate body (1970) p.430", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 property_value: UBPROP:0000011 "involves the recruitment of myocardial cells as well as of non- muscular mesenchymal cells (Kaufman and Bard, 1999)" xsd:string {source="ISBN:0124020607"} [Term] id: UBERON:0002097 name: skin of body namespace: uberon def: "The organ covering the body that consists of the dermis and epidermis." [UBERON:cjm] subset: efo_slim subset: human_reference_atlas subset: major_organ subset: pheno_slim subset: uberon_slim synonym: "entire integument" RELATED [] synonym: "entire skin" EXACT [] synonym: "integument" RELATED [] synonym: "integumental organ" RELATED [] synonym: "pelt" RELATED [] synonym: "skin" RELATED [] synonym: "skin organ" EXACT [] xref: BTO:0001253 xref: CALOHA:TS-0934 xref: EFO:0000962 xref: EHDAA2:0001844 xref: EMAPA:17525 xref: FMA:7163 xref: galen:Skin xref: MESH:D012867 xref: MFMO:0000099 xref: NCIT:C12470 xref: SCTID:181469002 xref: UMLS:C1123023 {source="ncithesaurus:Skin"} xref: Wikipedia:Skin xref: XAO:0000023 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000467 ! anatomical system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/6/6d/Skin.svg xsd:anyURI property_value: IAO:0000232 "consider 'integumentary system' for invertebrates" xsd:string property_value: RO:0002175 NCBITaxon:9606 property_value: UBPROP:0000012 "MA uses the term skin to refer to what is called here: zone of skin" xsd:string {external_ontology="FMA"} [Term] id: UBERON:0002100 name: trunk namespace: uberon def: "Organism subdivision which is the part of the body posterior to the cervical region (or head, when cervical region not present) and anterior to the caudal region. Includes the sacrum when present." [TAO:0001115, UBERONREF:0000006, Wikipedia:Torso] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "Rumpf" RELATED [BTO:0001493] synonym: "thoracolumbar region" EXACT [] synonym: "torso" EXACT [] synonym: "trunk region" EXACT [XAO:0000054] xref: AAO:0010339 xref: BILA:0000116 xref: BTO:0001493 xref: CALOHA:TS-1071 xref: EFO:0000966 xref: EMAPA:31857 xref: FMA:7181 xref: galen:Trunk xref: MA:0000004 xref: MAT:0000296 xref: MIAA:0000296 xref: NCIT:C33816 xref: SCTID:262225004 xref: TAO:0001115 xref: UMLS:C0460005 {source="ncithesaurus:Trunk"} xref: Wikipedia:Torso xref: XAO:0000054 xref: XAO:0003025 xref: ZFA:0001115 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0013702 ! body proper property_value: external_definition "Organism subdivision that is the part of the body posterior to the head and anterior to the tail.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010339", ontology="AAO", source="AAO:BJB"} property_value: external_definition "Organism subdivision which is the part of the body posterior to the head and anterior to the tail.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0001115", ontology="TAO", source="ZFIN:curator"} property_value: RO:0002171 UBERON:0000026 {exceptions="ZFA", source="https://github.com/obophenotype/uberon/issues/378", status="pending"} property_value: RO:0002171 UBERON:0000033 [Term] id: UBERON:0002101 name: limb namespace: uberon def: "A paired appendage that is evolved from a paired fin. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the girdle and its parts." [UBERONREF:0000003] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "extremities" RELATED PLURAL [] synonym: "extremity" RELATED [] synonym: "flipper" NARROW SENSU [] synonym: "free limb" EXACT [FMA:24875] synonym: "limb sensu Vertebrata" EXACT [MAT:0000090] synonym: "pentadactyl limb" EXACT [] synonym: "tetrapod limb" EXACT [] xref: AAO:0010336 xref: AEO:0000172 xref: CALOHA:TS-0552 xref: EFO:0000876 xref: EHDAA2:0003172 xref: EHDAA:1697 xref: EHDAA:8273 xref: EMAPA:16405 xref: FMA:24875 xref: GAID:36 xref: galen:Extremity xref: MA:0000007 xref: MAT:0000090 xref: MIAA:0000090 xref: NCIT:C12429 xref: SCTID:243996003 xref: UMLS:C0015385 {source="ncithesaurus:Limb"} xref: VHOG:0000336 xref: VSAO:0000121 xref: Wikipedia:Limb xref: XAO:0003027 is_a: UBERON:0000026 ! appendage property_value: external_definition "Organism subdivision that has as its parts the jointed appendages used for locomotion and manipulation.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010336", ontology="AAO", source="AAO:BJB"} property_value: homology_notes "Most anatomists now agree that the three proximal bones of the tetrapod limbs are homologous to the two or three proximal elements of the paired fin skeleton of other sarcopterygians, that is the humerus-femur, radius-tibia, and ulna-fibula.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000336", ontology="VHOG", source="ISBN:978-0198540472 Janvier P, Early vertebrates (1996) p.268", source="http://bgee.unil.ch/"} [Term] id: UBERON:0002102 name: forelimb namespace: uberon def: "A (free) limb that is connected to a pectoral girdle. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the pectoral girdle and its parts." [UBERONREF:0000003] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "anteriormost limb" EXACT [] synonym: "fore limb" EXACT [] synonym: "foreleg" RELATED [] synonym: "forelimb" EXACT [] synonym: "free part of upper limb" EXACT [FMA:24878] synonym: "free upper limb" EXACT [FMA:24878, UBERONREF:0000003] synonym: "membrum superius" EXACT LATIN [FMA:7183, FMA:TA] synonym: "pectoral flipper" NARROW SENSU [] synonym: "pectoral limb" EXACT [] synonym: "superior member" EXACT [] synonym: "upper extremity" EXACT [] synonym: "upper limb" EXACT [] xref: AAO:0000205 xref: BTO:0001729 xref: CALOHA:TS-2214 xref: EFO:0000882 xref: EHDAA2:0002133 xref: EHDAA:6208 xref: EMAPA:17412 xref: EV:0100014 xref: FMA:24878 xref: GAID:1215 xref: GAID:51 xref: galen:UpperExtremity xref: MA:0000025 xref: MAT:0000394 xref: MESH:D005552 xref: MIAA:0000394 xref: NCIT:C12671 xref: SCTID:182245002 xref: UMLS:C1140618 {source="ncithesaurus:Upper_Extremity"} xref: VHOG:0000338 xref: VSAO:0000148 xref: Wikipedia:Forelimb xref: XAO:0003030 is_a: UBERON:0002101 ! limb property_value: external_definition "Upper limb, which connects the manus with the pectoral girdle.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000205", ontology="AAO", source="AAO:LAP"} property_value: IAO:0000232 "Note distinction between arm and forelimb. hand is part of forelimb, but not part of arm" xsd:string property_value: RO:0002171 UBERON:0002103 property_value: UBPROP:0000012 "note that this corresponds to FMA:'free upper limb' (a limb segment), NOT FMA:'upper limb'. Both MA and FMA consider shoulder (and shoulder bones) part of upper limb" xsd:string {external_ontology="FMA"} [Term] id: UBERON:0002103 name: hindlimb namespace: uberon def: "A (free) limb that is connected to a pelvic girdle region. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the pelvic girdle and its parts." [UBERONREF:0000003, Wikipedia:Hindlimb, Wikipedia:Lower_limb] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "free lower limb" EXACT [FMA:24879, UBERONREF:0000003] synonym: "free part of lower limb" RELATED [FMA:24879] synonym: "hind limb" EXACT [] synonym: "hind-limb" EXACT [VSAO:0000150] synonym: "hindlimb" EXACT [] synonym: "inferior member" EXACT [] synonym: "lower extremity" RELATED [] synonym: "lower limb" EXACT [] synonym: "membrum inferius" EXACT LATIN [FMA:7184, FMA:TA] synonym: "membrum inferius" RELATED LATIN [Wikipedia:Lower_limb] synonym: "pelvic appendage" RELATED [] xref: AAO:0000219 xref: BTO:0002345 xref: CALOHA:TS-2215 xref: EFO:0000883 xref: EHDAA2:0001033 xref: EHDAA:6094 xref: EMAPA:17458 xref: EV:0100015 xref: FMA:24879 xref: GAID:1221 xref: GAID:38 xref: galen:LowerExtremity xref: MA:0000026 xref: MAT:0000395 xref: MESH:D006614 xref: MIAA:0000395 xref: NCIT:C12742 xref: NCIT:C77625 xref: SCTID:182281004 xref: UMLS:C0023216 {source="ncithesaurus:Lower_Extremity"} xref: UMLS:C1522391 {source="ncithesaurus:Hind_Limb"} xref: VHOG:0000337 xref: VSAO:0000150 xref: Wikipedia:Hindlimb xref: XAO:0003031 is_a: UBERON:0002101 ! limb property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/d/dc/Gray1239.png xsd:anyURI property_value: external_definition "Lower limb, which connects the pes with the pelvic girdle.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000219", ontology="AAO", source="AAO:LAP"} property_value: has_relational_adjective "crural" xsd:string property_value: homology_notes "Most anatomists now agree that the three proximal bones of the tetrapod limbs are homologous to the two or three proximal elements of the paired fin skeleton of other sarcopterygians, that is the humerus-femur, radius-tibia, and ulna-fibula.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000337", ontology="VHOG", source="ISBN:978-0198540472 Janvier P, Early vertebrates (1996) p.268", source="http://bgee.unil.ch/"} property_value: UBPROP:0000012 "note that this corresponds to FMA:'free lower limb' (a limb segment), NOT 'lower limb'. Both MA and FMA consider shoulder (and shoulder bones) part of upper limb. Note that AAO class probably refers to skeleton" xsd:string {external_ontology="FMA"} [Term] id: UBERON:0002106 name: spleen namespace: uberon def: "The organ that functions to filter blood and to store red corpuscles and platelets." [ISBN:0-683-40008-8, MP:0000689] subset: efo_slim subset: human_reference_atlas subset: organ_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "lien" RELATED LATIN [Wikipedia:Spleen] xref: AAO:0010395 xref: BTO:0001281 xref: CALOHA:TS-0956 xref: EFO:0000869 xref: EMAPA:18767 xref: EV:0100055 xref: FMA:7196 xref: GAID:1289 xref: galen:Spleen xref: MA:0000141 xref: MAT:0000085 xref: MESH:D013154 xref: MIAA:0000085 xref: NCIT:C12432 xref: SCTID:181279003 xref: TAO:0000436 xref: UMLS:C0037993 {source="ncithesaurus:Spleen"} xref: VHOG:0000120 xref: Wikipedia:Spleen xref: XAO:0000328 xref: ZFA:0000436 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0000916 ! abdomen relationship: part_of UBERON:0001007 ! digestive system relationship: part_of UBERON:0002100 ! trunk relationship: part_of UBERON:0002390 ! hematopoietic system relationship: part_of UBERON:0002405 ! immune system property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/d/d6/Illu_spleen.jpg xsd:anyURI property_value: external_definition "An organ involved in red blood cell filtration and immune response.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010395", ontology="AAO", source="AAO:BMZ"} property_value: has_relational_adjective "lienal" xsd:string property_value: has_relational_adjective "splenic" xsd:string property_value: homology_notes "With the advent of clonal selection, the accumulation and segregation of T and B cells in specialized organs for antigen presentation became necessary, and indeed the spleen is found in all jawed vertebrates, but not in agnathans or invertebrates.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000120", ontology="VHOG", source="ISBN:978-0781765190 Paul WE, Fundamental Immunology (2008) p.94", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "In humans, it is located in the left upper quadrant of the abdomen. It removes old red blood cells and holds a reserve in case of hemorrhagic shock, especially in animals like horses (not in humans), while recycling iron" xsd:string property_value: taxon_notes "Neither hagfish nor lampreys possess what might be considered a discrete and condensed spleen. Hagfish possess dispersed lymphoid tissue within the submucosa of the intestine (96) associated with the portal vein (97), whereas lymphoid tissue is associated with the typhlosole portion of the intestine in lampreys (96)" xsd:string {source="PMID:20959416"} property_value: UBPROP:0000009 "It synthesizes antibodies in its white pulp and removes, from blood and lymph node circulation, antibody-coated bacteria along with antibody-coated blood cells" xsd:string [Term] id: UBERON:0002107 name: liver namespace: uberon def: "An exocrine gland which secretes bile and functions in metabolism of protein and carbohydrate and fat, synthesizes substances involved in the clotting of the blood, synthesizes vitamin A, detoxifies poisonous substances, stores glycogen, and breaks down worn-out erythrocytes[GO]." [BTO:0000759, Wikipedia:Liver] subset: efo_slim subset: human_reference_atlas subset: major_organ subset: organ_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "iecur" RELATED LATIN [Wikipedia:Liver] synonym: "jecur" RELATED LATIN [Wikipedia:Liver] xref: AAO:0010111 xref: BTO:0000759 xref: CALOHA:TS-0564 xref: EFO:0000887 xref: EHDAA2:0000997 xref: EHDAA:2197 xref: EMAPA:16846 xref: EV:0100089 xref: FMA:7197 xref: GAID:288 xref: galen:Liver xref: MA:0000358 xref: MAT:0000097 xref: MESH:D008099 xref: MIAA:0000097 xref: NCIT:C12392 xref: SCTID:181268008 xref: TAO:0000123 xref: UMLS:C0023884 {source="ncithesaurus:Liver"} xref: VHOG:0000257 xref: Wikipedia:Liver xref: XAO:0000133 xref: ZFA:0000123 is_a: UBERON:0002368 ! endocrine gland relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0000916 ! abdomen relationship: part_of UBERON:0000949 ! endocrine system relationship: part_of UBERON:0001007 ! digestive system relationship: part_of UBERON:0002100 ! trunk relationship: part_of UBERON:0002423 ! hepatobiliary system property_value: axiom_lost_from_external_ontology "relationship type change: differentiates_from endoderm (AAO:0000139) CHANGED TO: develops_from endoderm (UBERON:0000925)[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010111", ontology="AAO"} property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/6/64/Leber_Schaf.jpg xsd:anyURI property_value: external_definition "Organ which secretes bile and participates in formation of certain blood proteins.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010111", ontology="AAO", source="AAO:BJB"} property_value: has_relational_adjective "hepatic" xsd:string property_value: homology_notes "All vertebrates possess a liver (reference 1); Later in craniate evolution, an anterior gill arch was transformed into jaws, and many new types of feeding subsequently evolved.(...) A liver evolved that, among its many functions, stores considerable energy as glycogen or lipid (reference 2).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000257", ontology="VHOG", source="ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.526, ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.43", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "An organ sometimes referred to as a liver is found associated with the digestive tract of the primitive chordate Amphioxus. However, this is an enzyme secreting gland, not a metabolic organ, and it is unclear how truly homologous it is to the vertebrate liver. The zebrafish liver differs from the mammalian liver in that the hepatocytes are not clearly organized in cords or lobules and the typical portal triads are not apparent. In addition, the zebrafish liver does not have Kuppfer cells. Furthermore, a clear distinction can be made between the male and female liver in the adult zebrafish. The female hepatocytes are very basophilic (Figure 15c) as a result of the production of vitellogenin (Van der Ven et al. 2003)." xsd:string property_value: taxon_notes "The liver is found in all vertebrates, and is typically the largest visceral organ. Its form varies considerably in different species, and is largely determined by the shape and arrangement of the surrounding organs. Nonetheless, in most species it is divided into right and left lobes; exceptions to this general rule include snakes, where the shape of the body necessitates a simple cigar-like form. The internal structure of the liver is broadly similar in all vertebrates." xsd:string property_value: UBPROP:0000009 "secretes bile and functions in metabolism of protein and carbohydrate and fat, synthesizes substances involved in the clotting of the blood, synthesizes vitamin A, detoxifies poisonous substances, stores glycogen, and breaks down worn-out erythrocytes[GO]." xsd:string property_value: UBPROP:0000012 "Only ZFA considers this part_of immune system - we weaken this to an overlaps relation, as in general it's only a subset of cells that have clear immune function." xsd:string {external_ontology="ZFA"} [Term] id: UBERON:0002108 name: small intestine namespace: uberon def: "Subdivision of digestive tract that connects the stomach to the large intestine and is where much of the digestion and absorption of food takes place (with the exception of ruminants). The mammalian small intestine is long and coiled and can be differentiated histologically into: duodenum, jejunem, ileum[WP,cjm,Kardong]." [ISBN:0073040584, Wikipedia:Small_intestine] subset: efo_slim subset: human_reference_atlas subset: major_organ subset: organ_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "anterior intestine" RELATED [] synonym: "intestinum tenue" RELATED LATIN [BTO:0000651, Wikipedia:Small_intestine] synonym: "mid intestine" RELATED [] synonym: "small bowel" EXACT [] synonym: "small intestine" EXACT [] xref: AAO:0010397 xref: BTO:0000651 xref: CALOHA:TS-0942 xref: EFO:0000841 xref: EMAPA:32834 xref: EV:0100072 xref: FMA:7200 xref: GAID:313 xref: galen:SmallIntestine xref: MA:0000337 xref: MAT:0000047 xref: MESH:D007421 xref: MIAA:0000047 xref: NCIT:C12386 xref: SCTID:181250005 xref: TAO:0001323 xref: UMLS:C0021852 {source="ncithesaurus:Small_Intestine"} xref: VHOG:0000055 xref: Wikipedia:Small_intestine xref: XAO:0000130 xref: ZFA:0001323 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000160 ! intestine relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001007 ! digestive system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/8/82/Stomach_colon_rectum_diagram.svg xsd:anyURI property_value: external_definition "The terminal region of the mid intestine is comprised of specialized enterocytes that appear to play a role in mucosal immunity. Wallace et al, 2005.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0001323", ontology="TAO", source="ZFIN:curator"} property_value: homology_notes "Intestinal surface area also is increased in amphibians and reptiles by internal folds and occasionally by a few villi. The intestine can be divided into a small intestine and a slightly wider large intestine.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000055", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.566", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0002110 name: gallbladder namespace: uberon def: "An organ that aids digestion and stores bile produced by the liver[WP]." [Wikipedia:Gallbladder] comment: Rats do not have a gallbladder, but produce bile. The bile flows directly from the liver through the (hepatic) bile duct into the small intestine (Hebel and Stromberg, 1988) subset: efo_slim subset: organ_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "cholecyst" EXACT [WikipediaVersioned:Gallbladder&oldid=1092217922] synonym: "gall bladder" EXACT [] synonym: "vesica biliaris" RELATED LATIN [Wikipedia:Gallbladder] synonym: "vesica fellea" RELATED LATIN [Wikipedia:Gallbladder] xref: AAO:0010114 xref: BTO:0000493 xref: CALOHA:TS-0394 xref: EFO:0000853 xref: EHDAA2:0000699 xref: EHDAA:8062 xref: EMAPA:17202 xref: EV:0100090 xref: FMA:7202 xref: galen:Gallbladder xref: MA:0000356 xref: MAT:0000072 xref: MESH:D005704 xref: MIAA:0000072 xref: NCIT:C12377 xref: SCTID:181269000 xref: TAO:0000208 xref: UMLS:C0016976 {source="ncithesaurus:Gallbladder"} xref: VHOG:0000221 xref: Wikipedia:Gallbladder xref: XAO:0000135 xref: ZFA:0000208 is_a: UBERON:0000061 ! anatomical structure relationship: never_in_taxon NCBITaxon:10114 {source="ISBN:9780120749034"} ! Rattus relationship: never_in_taxon NCBITaxon:8801 {source="GOC:mr", source="ISBN:9781840761122"} relationship: never_in_taxon NCBITaxon:8930 {source="GOC:mr", source="ISBN:9781840761122"} relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0000916 ! abdomen relationship: part_of UBERON:0001007 ! digestive system relationship: part_of UBERON:0002100 ! trunk relationship: part_of UBERON:0002294 ! biliary system relationship: part_of UBERON:0002423 ! hepatobiliary system property_value: axiom_lost_from_external_ontology "relationship type change: differentiates_from endoderm (AAO:0000139) CHANGED TO: develops_from endoderm (UBERON:0000925)[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010114", ontology="AAO"} property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/b/b1/GallbladderAnatomy-en.svg xsd:anyURI property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/f/f4/Abdomal_organs.svg xsd:anyURI property_value: external_definition "Membranous muscular sac in which the bile from the liver remains stored until it is required. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000221", ontology="VHOG", source="http://bgee.unil.ch/"} property_value: external_definition "Organ attached to the liver which stores bile and empties into the duodenum via the bile duct as needed for digestion.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010114", ontology="AAO", source="AAO:BJB"} property_value: homology_notes "The presence of a gallbladder appears to be a primitive trait. It is found in most fish and all adult reptiles and amphibians and has been well conserved in mammals, for the most part.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000221", ontology="VHOG", source="DOI:10.1002/(SICI)1097-0029(19970915)38:6<571::AID-JEMT3>3.0.CO;2-I Oldham-Ott CK, Gilloteaux J, Comparative morphology of the gallbladder and biliary tract in vertebrates: Variation in structure, homology in function and gallstones. Microscopy research and technique (1997)", source="http://bgee.unil.ch/"} [Term] id: UBERON:0002112 name: smooth muscle of esophagus namespace: uberon def: "A portion of smooth muscle tissue that is part of a esophagus [Automatically generated definition]." [OBOL:automatic] subset: pheno_slim synonym: "esophageal smooth muscle" EXACT [] synonym: "esophagus involuntary muscle" EXACT [OBOL:automatic] synonym: "esophagus non-striated muscle" EXACT [OBOL:automatic] synonym: "esophagus smooth muscle" EXACT [] synonym: "esophagus smooth muscle tissue" EXACT [OBOL:automatic] synonym: "gullet involuntary muscle" EXACT [OBOL:automatic] synonym: "gullet non-striated muscle" EXACT [OBOL:automatic] synonym: "gullet smooth muscle" EXACT [OBOL:automatic] synonym: "gullet smooth muscle tissue" EXACT [OBOL:automatic] synonym: "involuntary muscle of esophagus" EXACT [OBOL:automatic] synonym: "involuntary muscle of gullet" EXACT [OBOL:automatic] synonym: "involuntary muscle of oesophagus" EXACT [OBOL:automatic] synonym: "non-striated muscle of esophagus" EXACT [OBOL:automatic] synonym: "non-striated muscle of gullet" EXACT [OBOL:automatic] synonym: "non-striated muscle of oesophagus" EXACT [OBOL:automatic] synonym: "oesophagus involuntary muscle" EXACT [OBOL:automatic] synonym: "oesophagus non-striated muscle" EXACT [OBOL:automatic] synonym: "oesophagus smooth muscle" RELATED [] synonym: "oesophagus smooth muscle tissue" EXACT [OBOL:automatic] synonym: "smooth muscle of gullet" EXACT [OBOL:automatic] synonym: "smooth muscle of oesophagus" EXACT [OBOL:automatic] synonym: "smooth muscle tissue of esophagus" EXACT [OBOL:automatic] synonym: "smooth muscle tissue of gullet" EXACT [OBOL:automatic] synonym: "smooth muscle tissue of oesophagus" EXACT [OBOL:automatic] xref: EMAPA:35323 xref: FMA:72025 xref: MA:0001573 is_a: UBERON:0001135 ! smooth muscle tissue intersection_of: UBERON:0001135 ! smooth muscle tissue intersection_of: part_of UBERON:0001043 ! esophagus relationship: part_of UBERON:0001043 ! esophagus [Term] id: UBERON:0002113 name: kidney namespace: uberon def: "A paired organ of the urinary tract which has the production of urine as its primary function." [http://anatomy.uams.edu/anatomyhtml/kidney.html, Wikipedia:Kidney] subset: efo_slim subset: human_reference_atlas subset: major_organ subset: organ_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "reniculate kidney" NARROW SENSU [Wikipedia:Reniculate_kidney] xref: AAO:0000250 xref: BTO:0000671 xref: CALOHA:TS-0510 xref: EFO:0000929 xref: EMAPA:17373 xref: EV:0100096 xref: FMA:7203 xref: GAID:423 xref: galen:Kidney xref: MA:0000368 xref: MAT:0000119 xref: MESH:D007668 xref: MIAA:0000119 xref: NCIT:C12415 xref: SCTID:181414000 xref: UMLS:C0022646 {source="ncithesaurus:Kidney"} xref: Wikipedia:Kidney xref: XAO:0003267 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0000916 ! abdomen relationship: part_of UBERON:0002100 ! trunk relationship: part_of UBERON:0011143 ! upper urinary tract relationship: UBPROP:0000202 FMA:264815 ! fma_set_term property_value: external_definition "One of either of a pair of structures lying on either side of the dorsal aorta in which fluid balance is regulated and waste is excreted out in the form of urine.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000250", ontology="AAO", source="AAO:BJB"} property_value: has_relational_adjective "renal" xsd:string property_value: RO:0002171 UBERON:0000160 property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0002114 name: duodenum namespace: uberon def: "The first part of the small intestine. At the junction of the stomach and the duodenum the alimentary canal is inflected. The duodenum first goes anteriorly for a short distance, turns dorsally, and eventually caudally, thus it is a U-shaped structure with two horizontal sections (a ventral and a dorsal one)." [ISBN:0815318960, Wikipedia:Duodenum] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "proximal intestine" RELATED [BTO:0000365] synonym: "upper intestine" RELATED [BTO:0000365] xref: AAO:0010402 xref: BTO:0000365 xref: CALOHA:TS-0214 xref: EFO:0000851 xref: EMAPA:18852 xref: EV:0100073 xref: FMA:7206 xref: GAID:284 xref: galen:Duodenum xref: MA:0000338 xref: MAT:0000044 xref: MESH:D004386 xref: MIAA:0000044 xref: NCIT:C12263 xref: SCTID:181247007 xref: UMLS:C0013303 {source="ncithesaurus:Duodenum"} xref: VHOG:0000052 xref: Wikipedia:Duodenum xref: XAO:0000236 is_a: UBERON:0000061 ! anatomical structure relationship: never_in_taxon NCBITaxon:7955 {source="ZFA:0000348"} ! Danio rerio relationship: part_of UBERON:0002108 ! small intestine property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/b/b3/Tractus_intestinalis_duodenum.svg xsd:anyURI property_value: external_definition "The fixed portion of the small intestine deeply lodged in the posterior wall of the abdomen and extending from the pylorus to the beginning of the jejunum. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000052", ontology="VHOG", source="http://bgee.unil.ch/"} property_value: has_relational_adjective "duodenal" xsd:string property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "In fish, the divisions of the small intestine are not as clear, and the terms anterior intestine or proximal intestine may be used instead of duodenum." xsd:string {scope="NCBITaxon:32443", source="Wikipedia:Duodenum"} property_value: taxon_notes "In humans, the duodenum is a hollow jointed tube about 10-15 inches (25-38 centimetres) long connecting the stomach to the jejunum. It begins with the duodenal bulb and ends at the ligament of Treitz." xsd:string {scope="NCBITaxon:9606", source="Wikipedia:Duodenum"} [Term] id: UBERON:0002115 name: jejunum namespace: uberon def: "The portion of the small intestine that extends from the duodenum to the ileum." [MGI:monikat, MP:0004002] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "intestinum jejunum" RELATED [BTO:0000657] synonym: "mid-intestine" RELATED [Wikipedia:Jejunum] synonym: "middle intestine" RELATED [BTO:0000657] xref: BTO:0000657 xref: CALOHA:TS-0496 xref: EFO:0001333 xref: EMAPA:18666 xref: EV:0100074 xref: FMA:7207 xref: GAID:318 xref: galen:Jejunum xref: MA:0000340 xref: MAT:0000045 xref: MESH:D007583 xref: MIAA:0000045 xref: NCIT:C12388 xref: SCTID:181248002 xref: UMLS:C0022378 {source="ncithesaurus:Jejunum"} xref: VHOG:0000053 xref: Wikipedia:Jejunum is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0002108 ! small intestine property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/3/3d/Illu_small_intestine.jpg xsd:anyURI property_value: external_definition "The first two fifth of the small intestine beyond the duodenum. It extends from the end of the duodenum to the ileum. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000053", ontology="VHOG", source="http://bgee.unil.ch/"} property_value: has_relational_adjective "jejunal" xsd:string property_value: IAO:0000116 "TODO consider ZFA:0001323 mid intestine, see also small intestine" xsd:string property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "The jejunum is the middle section of the small intestine in most higher vertebrates, including mammals, reptiles, and birds. In fish, the divisions of the small intestine are not as clear and the terms middle intestine or mid-gut may be used instead of jejunum.[Wikipedia:Jejunum]" xsd:string [Term] id: UBERON:0002116 name: ileum namespace: uberon def: "The portion of the small intestine that extends from the jejunum to the colon." [ISBN:0-683-40008-8, MGI:csmith, MP:0002581] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "distal intestine" RELATED [BTO:0000620] synonym: "intestinum ileum" RELATED [BTO:0000620] synonym: "lower intestine" RELATED [BTO:0000620] synonym: "posterior intestine" RELATED [Wikipedia:Ileum] xref: AAO:0010403 xref: BTO:0000620 xref: CALOHA:TS-0472 xref: EFO:0001334 xref: EMAPA:32764 xref: EV:0100075 xref: FMA:7208 xref: GAID:315 xref: galen:Ileum xref: MA:0000339 xref: MAT:0000282 xref: MESH:D007082 xref: MIAA:0000282 xref: NCIT:C12387 xref: SCTID:181249005 xref: UMLS:C0020885 {source="ncithesaurus:Ileum"} xref: VHOG:0000647 xref: Wikipedia:Ileum xref: XAO:0000237 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0002108 ! small intestine property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/3/3d/Illu_small_intestine.jpg xsd:anyURI property_value: has_relational_adjective "ileal" xsd:string property_value: homology_notes "Although all vertebrates have a digestive tract and accessory glands, various parts of this system are not necessarily homologous, analogous, or even present in all species. Therefore, broad comparisons can be best made under the listings of headgut, foregut, midgut, pancreas and biliary system, hindgut.[uncertain][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000647", ontology="VHOG", source="ISBN:978-0521617147 Stevens CE and Hume ID, Comparative physiology of the vertebrate digestive system (2004) p.11", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "TODO consider ZFA:0000706 posterior intestine, see also colon" xsd:string property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "The ileum is the final section of the small intestine in most higher vertebrates, including mammals, reptiles, and birds. In fish, the divisions of the small intestine are not as clear and the terms posterior intestine or distal intestine may be used instead of ileum.[Wikipedia:Ileum]" xsd:string [Term] id: UBERON:0002120 name: pronephros namespace: uberon alt_id: UBERON:0005794 def: "In mammals, the pronephros is the first of the three embryonic kidneys to be established and exists only transiently. In lower vertebrates such as fish and amphibia, the pronephros is the fully functional embryonic kidney and is indispensible for larval life[GO]." [GO:0048793, Wikipedia:Pronephros] comment: Once the more complex mesonephros forms the pronephros undergoes apoptosis in amphibians. In fishes the nephron degenerates but the organ remains and becomes a component of the immune system[Wikipedia:Pronephros]. // TODO - check developmental relationships. Note that we previously include the ZFA/XAO terms under the more specific 'pronephric kidney', but these are now merged. TODO GCI: relationship: capable_of GO:0030104 subset: efo_slim subset: organ_slim subset: uberon_slim synonym: "archinephron" RELATED [BTO:0001541] synonym: "embryonic kidney" RELATED [BTO:0001541] synonym: "pronephric kidney" EXACT [XAO:0002000] synonym: "pronephron" RELATED [BTO:0001541] xref: AAO:0011089 xref: BTO:0001541 xref: EFO:0000927 xref: EHDAA2:0001570 xref: EHDAA:1017 xref: EMAPA:16579 xref: FMA:72170 xref: MAT:0000117 xref: MESH:D060910 xref: MIAA:0000117 xref: NCIT:C34280 xref: SCTID:308804007 xref: TAO:0000151 xref: UMLS:C0231048 {source="ncithesaurus:Pronephros"} xref: VHOG:0000037 xref: Wikipedia:Pronephros xref: XAO:0002000 xref: ZFA:0000151 is_a: UBERON:0002113 ! kidney property_value: external_definition "A kidney formed of nephric tubules arising in the anterior region of the nephric ridge; forms only as a transient embryonic structure. [Evolution, Fourth_Edition_(2006)_McGraw-Hill, Function, Kardong_KV, Vertebrates:_Comparative_Anatomy, p.748][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000037", ontology="VHOG", source="http://bgee.unil.ch/"} property_value: external_definition "Organ that serves as a transient kidney, providing osmoregulation during early developmental stages and then degenerating during metamorphosis.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0011089", ontology="AAO", source="XAO:curator"} property_value: external_definition "The embryonic kidney, present at the level of the third somite, is composed of two glomeruli fused at the midline, two pronephric tubules, and paired bilateral pronephric ducts that modify the composition of the blood filtrate before delivering it to the cloaca for excretion.Kimmel et al, 1995.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000151", ontology="TAO", source="ZFIN:curator"} property_value: has_relational_adjective "pronephric" xsd:string property_value: homology_notes "In all vertebrate embryos, the kidney begins with the differentiation of a few renal tubules from the anterior end of the nephric ridge overlying the pericardial cavity. (...) This early-developing embryonic kidney is called the pronephros.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000037", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.637", source="http://bgee.unil.ch/"} [Term] id: UBERON:0002124 name: medulla of thymus namespace: uberon def: "Medullary portion of thymus. The reticulum is coarser than in the cortex, the lymphoid cells are relatively fewer in number, and there are found peculiar nest-like bodies, the concentric corpuscles of Hassall. These concentric corpuscles are composed of a central mass, consisting of one or more granular cells, and of a capsule formed of epithelioid cells. They are the remains of the epithelial tubes, which grow out from the third branchial pouches of the embryo to form the thymus. Each follicle is surrounded by a vascular plexus, from which vessels pass into the interior, and radiate from the periphery toward the center, forming a second zone just within the margin of the medullary portion. In the center of the medullary portion there are very few vessels, and they are of minute size." [Wikipedia:Thymus#Medulla] subset: efo_slim subset: human_reference_atlas subset: pheno_slim synonym: "medulla of thymus gland" EXACT [OBOL:automatic] synonym: "thymus gland medulla" EXACT [OBOL:automatic] synonym: "thymus medulla" EXACT [] xref: BTO:0004560 xref: EFO:0001969 xref: EMAPA:19305 xref: FMA:72206 xref: MA:0000771 xref: NCIT:C33775 xref: SCTID:188344009 xref: UMLS:C0229949 {source="ncithesaurus:Thymus_Medulla"} xref: Wikipedia:Thymus#Medulla is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0002370 ! thymus property_value: RO:0002175 NCBITaxon:7955 {source="DOI:10.1177/0192623311409597"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0002135 name: mitral valve namespace: uberon def: "An atrioventricular valve that is part of the outflow part of the left atrium." [http://orcid.org/0000-0002-6601-2165] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "bicuspid valve" RELATED [] synonym: "left atrioventricular valve" EXACT [] synonym: "valva atrioventricularis sinistra" EXACT LATIN [FMA:7235, FMA:TA] synonym: "valva mitralis" RELATED LATIN [Wikipedia:Mitral_valve] xref: EFO:0003933 xref: EHDAA2:0000168 xref: EMAPA:17871 xref: FMA:7235 xref: GAID:565 xref: galen:MitralValve xref: MA:0000088 xref: MESH:D008943 xref: NCIT:C12753 xref: SCTID:181286006 xref: UMLS:C0026264 {source="ncithesaurus:Mitral_Valve"} xref: VHOG:0000817 xref: Wikipedia:Mitral_valve is_a: EFO:0001955 ! heart component relationship: part_of UBERON:0000948 ! heart property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/2/20/Diagram_of_the_human_heart_%28cropped%29.svg xsd:anyURI property_value: external_definition "A valve of the heart, composed of two triangular flaps, that is located between the left atrium and left ventricle and regulates blood flow between these chambers. [TFD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000817", ontology="VHOG", source="http://bgee.unil.ch/", source="http://medical-dictionary.thefreedictionary.com/mitral+valve"} property_value: homology_notes "The mature AV (atrioventricular) valve of the adult zebrafish 2-chambered heart is structurally similar to the mammalian AV valves with stratified ECM (extracellular matrix) and supporting chordae tendineae. Therefore, the major cellular and molecular events of valve development are largely conserved among animals with hearts composed of multiple chambers.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000817", ontology="VHOG", source="DOI:10.1161/CIRCRESAHA.109.201566 Combs MD, Yutzey KE, Heart valve development. Circulatory Research (2009)", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 property_value: UBPROP:0000012 "FMA part_ofs changed to connects" xsd:string {external_ontology="FMA"} [Term] id: UBERON:0002137 name: aortic valve namespace: uberon def: "Cardiac valve which has as its parts the anterior, right posterior and left posterior cusps, attached to the fibrous ring of aortic valve.[FMA]." [FMA:FMA, Wikipedia:Aortic_valve] comment: Human variation: It is normally tricuspid (with three leaflets), although in 1% of the population it is found to be congenitally bicuspid (two leaflets) subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "valva aortae" RELATED LATIN [Wikipedia:Aortic_valve] xref: BTO:0004628 xref: EFO:0003879 xref: EHDAA2:0000134 xref: EHDAA:4410 xref: EMAPA:17870 xref: FMA:7236 xref: GAID:563 xref: galen:AorticValve xref: MA:0000087 xref: MESH:D001021 xref: NCIT:C12670 xref: SCTID:181287002 xref: UMLS:C0003501 {source="ncithesaurus:Aortic_Valve"} xref: VHOG:0000815 xref: Wikipedia:Aortic_valve is_a: EFO:0001955 ! heart component relationship: part_of UBERON:0000948 ! heart property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/2/20/Diagram_of_the_human_heart_%28cropped%29.svg xsd:anyURI property_value: external_definition "The valve between the left ventricle of the heart and the ascending aorta, consisting of three semilunar cusps. [TFD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000815", ontology="VHOG", source="http://bgee.unil.ch/", source="http://medical-dictionary.thefreedictionary.com/aortic+valve"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0002148 name: locus ceruleus namespace: uberon def: "The locus ceruleus is a dense cluster of neurons within the dorsorostral pons. This nucleus is the major location of neurons that release norepinephrine throughout the brain, and is responsible for physiological responses to stress and panic[GO]. Bluish region in the superior angle of the fourth ventricle floor, corresponding to melanin-like pigmented nerve cells which lie lateral to the ponto-mesencephalic central gray (griseum centrale). It is also known as nucleus pigmentosus pontis[GAID]." [GAID:577, GO:0021703, Wikipedia:Locus_ceruleus] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "blue nucleus" EXACT [BIRNLEX:905] synonym: "caerulean nucleus" EXACT [] synonym: "loci coeruleus" RELATED PLURAL [ZFA:0000539] synonym: "locus caeruleus" EXACT [BIRNLEX:905] synonym: "locus cinereus" RELATED [BTO:0001408] synonym: "locus coeruleu" EXACT [] synonym: "locus coeruleus" EXACT [] synonym: "locus coeruleus (Vicq d'Azyr)" RELATED [NeuroNames:583] synonym: "Noradrenergic cell group A6" EXACT [Noradrenergic_cell_group_A6&oldid=981960774] synonym: "nucleus caeruleus" EXACT LATIN [FMA:72478, FMA:TA] synonym: "nucleus loci caerulei" RELATED LATIN [NeuroNames:583] synonym: "nucleus of locus caeruleus" EXACT [] synonym: "nucleus pigmentosus pontis" EXACT [BIRNLEX:905] synonym: "substantia ferruginea" EXACT [BIRNLEX:905] xref: BAMS:CAE xref: BAMS:LC xref: BIRNLEX:905 xref: BM:Pons-LC xref: BTO:0001408 xref: DHBA:12819 xref: DMBA:16972 xref: EFO:0001963 xref: EMAPA:35502 xref: FMA:72478 xref: GAID:577 xref: HBA:9148 xref: MA:0001017 xref: MBA:147 xref: MESH:D008125 xref: NCIT:C97333 xref: neuronames:583 {source="BIRNLEX:905"} xref: SCTID:369016004 xref: TAO:0000539 xref: UMLS:C0023951 {source="ncithesaurus:Locus_Coeruleus", source="BIRNLEX:905"} xref: Wikipedia:Locus_ceruleus xref: ZFA:0000539 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0001017 ! central nervous system relationship: part_of UBERON:0002028 ! hindbrain relationship: part_of UBERON:0002298 ! brainstem property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/7/77/Gray709.png xsd:anyURI property_value: IAO:0000116 "TODO - check ZFA/pons. also GO says part of dorsorostral pons" xsd:string property_value: RO:0002171 UBERON:0002047 {source="ABA"} property_value: RO:0002171 UBERON:0002267 {source="ABA"} property_value: RO:0002171 UBERON:0002587 {source="ABA"} property_value: RO:0002171 UBERON:0003004 {source="ABA"} [Term] id: UBERON:0002165 name: endocardium namespace: uberon alt_id: UBERON:0006225 def: "The endocardium is an anatomical structure comprised of an endothelium and an extracellular matrix that forms the innermost layer of tissue of the heart, and lines the heart chambers[GO]." [GO:0003157] comment: fixed in GO to reflect FMA. See email to David/Varsha June 18 2010 subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "endocardial lining" EXACT [EMAPA:32686] synonym: "endocardial tissue" EXACT [EMAPA:17868] synonym: "heart endocardial tissue" RELATED [VHOG:0000084] synonym: "heart endocardium" EXACT [] xref: AAO:0010408 xref: BTO:0000387 xref: CALOHA:TS-2075 xref: EFO:0000821 xref: EHDAA2:0004153 xref: EMAPA:17868 xref: EMAPA:32686 xref: EV:0100021 xref: FMA:7280 xref: GAID:550 xref: galen:Endocardium xref: MA:0000076 xref: MAT:0000455 xref: MESH:D004699 xref: NCIT:C13004 xref: SCTID:362013006 xref: TAO:0001320 xref: UMLS:C0014124 {source="ncithesaurus:Endocardium"} xref: VHOG:0000084 xref: Wikipedia:Endocardium xref: XAO:0000066 xref: ZFA:0001320 is_a: EFO:0001955 ! heart component relationship: part_of UBERON:0000948 ! heart property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/6/6c/Gray493.png xsd:anyURI property_value: external_definition "Layer that lines the lumen of the heart.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0001320", ontology="TAO", source="ZFIN:curator"} property_value: external_definition "Part of the heart comprised of thin serous membrane, composed of endothelial tissue, that lines the interior of the heart.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010408", ontology="AAO", source="AAO:BJB"} property_value: external_definition "Tunica intima which has as its parts the endothelium of endocardium and the fibroelastic connective tissue that surrounds the cavity of a cardiac chamber." xsd:string {source="FMA:7280"} [Term] id: UBERON:0002169 name: alveolar sac namespace: uberon alt_id: UBERON:0008871 def: "The small terminal dilation of the alveolar ducts around which the alveoli form pocket-like clusters." [MP:0010902, Wikipedia:Alveolar_sac] subset: pheno_slim subset: uberon_slim synonym: "air sac" RELATED [MP:0010902] synonym: "pulmonary alveolar sac" EXACT [MP:0010902] synonym: "sacculus alveolaris" EXACT [FMA:7317] xref: BTO:0000061 xref: EMAPA:35119 xref: FMA:7317 xref: MA:0000418 xref: NCIT:C32057 xref: SCTID:361964007 xref: UMLS:C0225691 {source="ncithesaurus:Alveolar_Sac"} xref: Wikipedia:Alveolar_sac is_a: UBERON:0000115 ! lung epithelium relationship: part_of UBERON:0000065 ! respiratory tract [Term] id: UBERON:0002170 name: upper lobe of right lung namespace: uberon def: "The lobe of the right lung that is closest to the head." [https://orcid.org/0000-0002-6601-2165] subset: pheno_slim synonym: "lobus superior (pulmo dexter)" EXACT LATIN [FMA:7333, FMA:TA] synonym: "lobus superior pulmonis dextri" EXACT LATIN [FMA:TA] synonym: "right cranial lobe of lung" EXACT [] synonym: "right lung cranial lobe" EXACT [MA:0000429] synonym: "right lung superior lobe" RELATED [MA:0000429] synonym: "right upper lobe" EXACT [FMA:7333] synonym: "right upper lobe of lung" EXACT [FMA:7333] synonym: "superior lobe of right lung" EXACT [FMA:7333] synonym: "upper lobe of right lung" EXACT [galen:UpperLobeOfRightLung] xref: EHDAA2:0001747 xref: EHDAA:4987 xref: EMAPA:17991 xref: FMA:7333 xref: galen:UpperLobeOfRightLung xref: MA:0000429 xref: NCIT:C33023 xref: SCTID:361969002 xref: UMLS:C1261074 {source="ncithesaurus:Upper_Lobe_of_the_Right_Lung"} xref: VHOG:0000859 is_a: EFO:0001986 ! lung structure relationship: part_of UBERON:0002048 ! lung [Term] id: UBERON:0002171 name: lower lobe of right lung namespace: uberon def: "The lobe of the right lung that is furtherst from the head." [https://orcid.org/0000-0002-6601-2165] subset: pheno_slim synonym: "inferior lobe of right lung" EXACT [FMA:7337] synonym: "lobus inferior (pulmo dexter)" EXACT LATIN [FMA:7337, FMA:TA] synonym: "lobus inferior pulmonis dextri" EXACT LATIN [FMA:7337, FMA:TA] synonym: "lower lobe of right lung" EXACT [galen:LowerLobeOfRightLung] synonym: "right caudal lobe of lung" EXACT [] synonym: "right lower lobe" EXACT [FMA:7337] synonym: "right lower lobe of lung" EXACT [FMA:7337] synonym: "right lung caudal lobe" RELATED [MA:0000428] synonym: "right lung inferior lobe" RELATED [MA:0000428] xref: EHDAA2:0001740 xref: EHDAA:4979 xref: EMAPA:17986 xref: FMA:7337 xref: galen:LowerLobeOfRightLung xref: MA:0000428 xref: NCIT:C33022 xref: SCTID:361976007 xref: UMLS:C1261075 {source="ncithesaurus:Lower_Lobe_of_the_Right_Lung"} xref: VHOG:0000857 is_a: EFO:0001986 ! lung structure relationship: part_of UBERON:0002048 ! lung [Term] id: UBERON:0002174 name: middle lobe of right lung namespace: uberon def: "In the human, the right lung is divided into three lobes (as opposed to two lobes on the left), superior, middle, and inferior, by two interlobular fissures: [WP,unvetted]." [Wikipedia:Middle_lobe_of_right_lung] comment: Called 'middle lobe of lung' in FMA subset: pheno_slim subset: uberon_slim synonym: "intermediate lobe of right lung" EXACT [] synonym: "lobus medius pulmonis dextri" EXACT LATIN [FMA:7383, FMA:TA] synonym: "middle lobe of lung" BROAD [FMA:7383] synonym: "right lung middle lobe" EXACT [] synonym: "right lung, middle lobe" EXACT [] synonym: "right medial lobe" BROAD [] synonym: "right medial lobe of lung" EXACT [] synonym: "right middle lobe" BROAD [] synonym: "right middle lobe of lung" EXACT [] xref: EMAPA:17997 xref: FMA:7383 xref: galen:MiddleLobeOfRightLung xref: MA:0000430 xref: NCIT:C12286 xref: SCTID:361973004 xref: UMLS:C0225757 {source="ncithesaurus:Middle_Lobe_of_the_Right_Lung"} xref: Wikipedia:Middle_lobe_of_right_lung is_a: EFO:0001986 ! lung structure relationship: part_of UBERON:0002048 ! lung property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/3/32/Gray972.png xsd:anyURI [Term] id: UBERON:0002182 name: main bronchus namespace: uberon def: "One of two branches of the trachea." [Wikipedia:Main_bronchus] subset: efo_slim subset: human_reference_atlas subset: organ_slim subset: uberon_slim synonym: "bronchus principalis" EXACT [FMA:7405] synonym: "extrapulmonary bronchus" EXACT [ISBN:0123813611] synonym: "mainstem bronchus" EXACT [] synonym: "major bronchus" EXACT [] synonym: "primary bronchus" EXACT [FMA:7405] synonym: "principal bronchus" EXACT [FMA:7405] synonym: "proximal bronchus" RELATED [] xref: EHDAA2:0001044 xref: EHDAA:3072 xref: EMAPA:16849 xref: FMA:7405 xref: MA:0000438 xref: NCIT:C12284 xref: SCTID:245508000 xref: UMLS:C0024496 {source="ncithesaurus:Main_Bronchus"} xref: VHOG:0000370 xref: Wikipedia:Main_bronchus is_a: UBERON:0002185 ! bronchus relationship: part_of UBERON:0002185 ! bronchus property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "In humans, histologically identical to trachea." xsd:string [Term] id: UBERON:0002183 name: lobar bronchus namespace: uberon def: "The lobar bronchus is the major airway within the respiratory tree that starts by division of the principal bronchi on both sides and ends at the point of its own subdivision into tertiary or segmental bronchi[GO]." [GO:0060482, Wikipedia:Secondary_bronchus] subset: human_reference_atlas subset: organ_slim subset: uberon_slim synonym: "bronchi lobaris" EXACT LATIN [Wikipedia:Secondary_bronchus] synonym: "lobar bronchi" RELATED PLURAL [Wikipedia:Secondary_bronchus] synonym: "secondary bronchi" RELATED PLURAL [Wikipedia:Secondary_bronchus] synonym: "secondary bronchus" EXACT [FMA:7406, Wikipedia:Secondary_bronchus] xref: EHDAA:4955 xref: EHDAA:4963 xref: EHDAA:4977 xref: EHDAA:4985 xref: EHDAA:4993 xref: EHDAA:8175 xref: EHDAA:8187 xref: EHDAA:8203 xref: EHDAA:8213 xref: EHDAA:8225 xref: EMAPA:32696 xref: FMA:7406 xref: MA:0000437 xref: NCIT:C32998 xref: SCTID:245509008 xref: UMLS:C0225653 {source="ncithesaurus:Lobar_Bronchus"} xref: Wikipedia:Secondary_bronchus is_a: EFO:0001986 ! lung structure is_a: UBERON:0002185 ! bronchus relationship: part_of UBERON:0002048 ! lung relationship: part_of UBERON:0002185 ! bronchus property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/d/df/Illu_quiz_lung05.jpg xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 property_value: UBPROP:0000010 "They have relatively large lumens that are lined by respiratory epithelium. There is a smooth muscle layer below the epithelium arranged as two ribbons of muscle that spiral in opposite directions. This smooth muscle layer contains seromucous glands. Irregularly arranged plates of hyaline cartilage surround the smooth muscle. These plates give structural support to the bronchus and maintain the patency of the lumen." xsd:string [Term] id: UBERON:0002184 name: segmental bronchus namespace: uberon def: "The tertiary bronchi (also known as the segmental bronchi) arise from the secondary bronchi. The respiratory epithelium lining their lumen is surrounded by a layer of smooth muscle. This layer is composed of two ribbons of smooth muscle that spiral in opposite directions. The smooth muscle layer is surrounded by irregular plates of hyaline cartilage which help maintain the patency of the airway. Each of the tertiary bronchi serves a specific bronchopulmonary segment. There are 10 tertiary bronchi in the right lung, and eight in the left. The tertiary bronchi get smaller and divide into primary bronchioles. [WP,unvetted]." [Wikipedia:Segmental_bronchus] subset: human_reference_atlas subset: organ_slim subset: uberon_slim synonym: "tertiary bronchus" EXACT [] xref: EHDAA:7043 xref: EHDAA:7049 xref: EHDAA:7058 xref: EHDAA:7064 xref: EHDAA:7070 xref: EMAPA:37739 {source="MA:th"} xref: FMA:7407 xref: MA:0000439 xref: NCIT:C33526 xref: SCTID:245513001 xref: UMLS:C0444439 {source="ncithesaurus:Segmental_Bronchus"} xref: VHOG:0001446 xref: Wikipedia:Segmental_bronchus is_a: EFO:0001986 ! lung structure is_a: UBERON:0002185 ! bronchus relationship: part_of UBERON:0002048 ! lung relationship: part_of UBERON:0002185 ! bronchus property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/d/df/Illu_quiz_lung05.jpg xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0002185 name: bronchus namespace: uberon def: "The upper conducting airways of the lung; these airways arise from the terminus of the trachea." [ISBN:0-397-51047-0, MESH:A04.411.125, MGI:cwg, MP:0002264] subset: efo_slim subset: organ_slim subset: pheno_slim subset: uberon_slim synonym: "bronchi" EXACT PLURAL [] synonym: "bronchial tissue" RELATED [BTO:0001340] synonym: "bronchial trunk" EXACT [FMA:7409] xref: BTO:0001340 xref: CALOHA:TS-1229 xref: EFO:0000932 xref: EMAPA:32689 xref: EV:0100041 xref: FMA:7409 xref: GAID:346 xref: MA:0000436 xref: MAT:0000133 xref: MESH:D001980 xref: MIAA:0000133 xref: NCIT:C12683 xref: SCTID:181215002 xref: UMLS:C0006255 {source="ncithesaurus:Bronchus"} xref: VHOG:0000262 xref: Wikipedia:Bronchus xref: XAO:0000121 is_a: UBERON:0000061 ! anatomical structure relationship: never_in_taxon NCBITaxon:8507 {source="Wikipedia"} relationship: part_of UBERON:0000065 ! respiratory tract property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/1/18/Respiratory_system_complete_numbered.svg xsd:anyURI property_value: external_definition "Each of the two primary divisions of the trachea leading respectively into the right and the left lung. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000262", ontology="VHOG", source="http://bgee.unil.ch/"} property_value: has_relational_adjective "bronchial" xsd:string property_value: taxon_notes "In humans, the main bronchus is histologically identical to trachea; 2ary and 3ary bronchi are not; epithelium becomes simple columnar, goblet cell number decreases, elastic fibers in lamina propria increases, distribution more uniform. Muscular layer between mucosa and submucosa appears. cartilage rings become discontinuous plates connected by fibrous connective tissue" xsd:string [Term] id: UBERON:0002186 name: bronchiole namespace: uberon def: "The conducting airway of the lungs found terminal to the bronchi; these structures contain neither cartilage nor mucous-secreting glands; the epithelium of the bronchioles becomes thinner with each branching." [ISBN:0-397-51047-0, MGI:cwg, MP:0002267] comment: In some texts/references/ontologies, bronchiole has been used as an exact synonym of 'lobular bronchiole'. However, a 'lobular bronchiole' is a segment of a bronchiole. {xref="https://github.com/obophenotype/uberon/issues/2795"} subset: pheno_slim subset: uberon_slim synonym: "bronchioli" RELATED PLURAL [] synonym: "bronchiolus" RELATED [BTO:0002375] xref: BTO:0002375 xref: CALOHA:TS-2003 xref: EHDAA:8171 xref: EHDAA:8183 xref: EHDAA:8199 xref: EHDAA:8221 xref: EMAPA:32697 xref: FMA:7410 xref: MA:0000422 xref: MESH:D055745 xref: NCIT:C12684 xref: SCTID:278982001 xref: UMLS:C0006270 {source="ncithesaurus:Bronchiole"} xref: VHOG:0000675 xref: Wikipedia:Bronchiole is_a: EFO:0001986 ! lung structure relationship: part_of UBERON:0000065 ! respiratory tract relationship: part_of UBERON:0002048 ! lung property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/d/db/Alveoli_diagram.png xsd:anyURI property_value: has_relational_adjective "bronchiolar" xsd:string property_value: UBPROP:0000010 "lacks submucosa and cartilage plates; they have 3 layers: mucosa, muscular layer and outer layer" xsd:string {source="ISBN:0123813611"} property_value: UBPROP:0000012 "In FMA2 and FMA3, lobular bronchiole is an exact synonym of bronchiole; however, there are two distinct terms for the corresponding epithelium." xsd:string {external_ontology="FMA"} [Term] id: UBERON:0002188 name: respiratory bronchiole namespace: uberon def: "A bronchiole that is the first segment of the respiratory zone." [ISBN:0123813611, Wikipedia:Respiratory_bronchiole] subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "bronchiolus respiratorii" EXACT LATIN [Wikipedia:Respiratory_bronchiole] synonym: "bronchiolus respiratorius" EXACT LATIN [FMA:7412] xref: BTO:0003222 xref: EMAPA:35729 xref: FMA:7412 xref: MA:0000423 xref: NCIT:C33465 xref: SCTID:128517006 xref: UMLS:C1261270 {source="ncithesaurus:Respiratory_Bronchiole"} xref: Wikipedia:Respiratory_bronchiole is_a: UBERON:0002186 ! bronchiole relationship: part_of UBERON:0002186 ! bronchiole property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/d/db/Alveoli_diagram.png xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "mice have few or none of these structures, with the terminal bronchioles transitioning directly to the alveolary ducts" xsd:string {source="ISBN:0123813611"} [Term] id: UBERON:0002190 name: subcutaneous adipose tissue namespace: uberon alt_id: UBERON:0008875 def: "A portion of adipose tissue that is part of the hypodermis, beneath the dermis." [http://orcid.org/0000-0002-6601-2165] subset: human_reference_atlas subset: pheno_slim synonym: "fatty layer of subcutaneous tissue" EXACT [FMA:74315] synonym: "fatty layer of superficial fascia" RELATED [FMA:74315] synonym: "hypodermis fat layer" EXACT [MP:0011156] synonym: "panniculus adiposus" BROAD [MP:0011156] synonym: "panniculus adiposus (tela subcutanea)" EXACT LATIN [FMA:74315, FMA:TA] synonym: "panniculus adiposus telae subcutaneae" EXACT LATIN [FMA:74315, FMA:TA] synonym: "subcutaneous fat" RELATED [BTO:0004042] synonym: "subcutaneous fat layer" EXACT [MP:0011156] xref: BTO:0004042 xref: EMAPA:35829 xref: FMA:74315 xref: MA:0000473 is_a: UBERON:0001013 ! adipose tissue property_value: external_definition "the superficial portion of the subcutaneous tissue which is specialized for fat storage[MP:0011156]" xsd:string {source="MP:0011156"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0002196 name: adenohypophysis namespace: uberon def: "The glandular, anterior lobe of the pituitary gland. The anterior pituitary regulates several physiological processes including stress, growth, and reproduction[WP]. The anterior lobe of the hypophysis (pituitary gland). This lobe contains cells that produce prolactin, growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone and proopiomelanocortin[ZFA]." [Wikipedia:Adenohypophysis, ZFIN:curator] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "AHP" BROAD ABBREVIATION [BIRNLEX:1581, NIFSTD:NeuroNames_abbrevSource] synonym: "anterior hypophysis" EXACT [ZFA:0001282] synonym: "anterior lobe (hypophysis)" EXACT [] synonym: "anterior lobe of hypophysis" EXACT [] synonym: "anterior lobe of pituitary" EXACT [] synonym: "anterior lobe of pituitary gland" EXACT [] synonym: "anterior lobe of the pituitary" RELATED [BAMS:APit] synonym: "anterior pituitary" EXACT [] synonym: "anterior pituitary gland" RELATED [BTO:0000040] synonym: "cranial lobe" RELATED [BTO:0000496] synonym: "lobus anterior" RELATED LATIN [NeuroNames:407] synonym: "lobus anterior (glandula pituitaria)" EXACT LATIN [FMA:74627, FMA:TA] synonym: "lobus anterior hypophysis" EXACT LATIN [FMA:74627, FMA:TA] synonym: "pituitary anterior lobe" RELATED [EMAPA:17514] synonym: "pituitary gland, anterior lobe" EXACT [] synonym: "pituitary glandanterior lobe" RELATED [BAMS:AL] synonym: "rostral lobe" RELATED [BTO:0000496] xref: AAO:0010540 xref: BAMS:AHY xref: BAMS:AL xref: BAMS:APit xref: BIRNLEX:1581 xref: BM:AHy xref: BTO:0000040 xref: CALOHA:TS-0794 xref: EFO:0000230 xref: EHDAA2:0000109 xref: EMAPA:17514 xref: FMA:74627 xref: MA:0000177 xref: MESH:D010903 xref: NCIT:C12772 xref: neuronames:407 {source="BIRNLEX:1581"} xref: SCTID:245532007 xref: TAO:0001282 xref: UMLS:C0032008 {source="ncithesaurus:Anterior_Lobe_of_the_Pituitary_Gland", source="BIRNLEX:1581"} xref: UMLS:C1280369 {source="BIRNLEX:1581"} xref: VHOG:0000141 xref: Wikipedia:Adenohypophysis xref: ZFA:0001282 is_a: UBERON:0000061 ! anatomical structure disjoint_from: UBERON:0002198 ! neurohypophysis relationship: part_of UBERON:0000007 ! pituitary gland property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/f/fb/Gray1181.png xsd:anyURI property_value: external_definition "Region of the pituitary gland derived from the buccal protrusion consisting of three regions.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010540", ontology="AAO", source="AAO:BJB"} property_value: external_definition "The anterior lobe of the hypophysis (pituitary gland). This lobe contains cells that produce prolactin, growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone and proopiomelanocortin. In contrast to mamalian vertebrates, the adenohypophysis remains in a subepithelial position and there exists no equivalent of Rathke's pouch in zebrafish. Herzog et al, 2004.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0001282", ontology="TAO", source="ZFIN:curator"} property_value: homology_notes "It (the hypophysis) develops embryonically in all vertebrates from two ectodermal evaginations that meet and unite. An infundibulum grows ventrally from the diencephalon of the brain, and Rathke's pouch extends dorsally from the roof of the developing mouth, or stomodaeum. The infundibulum remains connected to the floor of the diencephalon, which becomes the hypothalamus, and gives rise to the part of the gland known as the neurohypophysis. (...) Rathke's pouch loses its connection with the stomodaeum in most adult vertebrates and gives rise to the rest of the gland, the adenohypophysis. (...) A well-developed hypophyseal system with functional connections to the hypothalamus is unique to craniates.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000141", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.510 and Figure 15-5", source="http://bgee.unil.ch/"} property_value: taxon_notes "In contrast to mammalian vertebrates, the adenohypophysis remains in a subepithelial position and there exists no equivalent of Rathke's pouch in zebrafish" xsd:string {source="ZFA"} property_value: taxon_notes "While in most basal fish and tetrapods the adenohypophyseal anlagen invaginates to form Rathke's pouch, in teleost fish the adenohypophyseal placode does not invaginate but rather maintains its initial organization forming a solid structure in the head[NCBIBook:NBK53175]." xsd:string [Term] id: UBERON:0002198 name: neurohypophysis namespace: uberon def: "The posterior part of the pituitary gland that secretes hormones involved in blood pressure regulation such as oxytocin and antidiuretic hormon." [MP:0004164] subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "infundibular process" EXACT [FMA:74628] synonym: "lobus nervosus" RELATED LATIN [NeuroNames:401] synonym: "lobus nervosus neurohypophysis" EXACT LATIN [FMA:74628, FMA:TA] synonym: "lobus posterior" RELATED LATIN [NeuroNames:401] synonym: "lobus posterior (glandula pituitaria)" EXACT LATIN [FMA:74628, FMA:TA] synonym: "lobus posterior hypophysis" EXACT LATIN [FMA:74628, FMA:TA] synonym: "neural lobe" EXACT [FMA:74628] synonym: "neural lobe of pituitary" EXACT [BIRNLEX:1586] synonym: "neural lobe of pituitary gland" EXACT [FMA:74628] synonym: "neuro hypophysis" EXACT [] synonym: "neurohypophysis" EXACT [] synonym: "NHP" BROAD ABBREVIATION [BIRNLEX:1586, NIFSTD:NeuroNames_abbrevSource] synonym: "pituitary gland neural lobe" RELATED [BAMS:NL] synonym: "pituitary gland, neural lobe" RELATED [NeuroNames:401] synonym: "pituitary gland, posterior lobe" EXACT [] synonym: "posterior lobe of hypophysis" RELATED [NeuroNames:401] synonym: "posterior lobe of pituitary" EXACT [] synonym: "posterior lobe of pituitary gland" EXACT [FMA:74628] synonym: "posterior pituitary" EXACT [] synonym: "posterior pituitary gland" RELATED [BTO:0000937] xref: AAO:0010537 xref: BAMS:NHP xref: BAMS:NHY xref: BAMS:NL xref: BAMS:PPit xref: BIRNLEX:1586 xref: BM:NY xref: BTO:0000937 xref: CALOHA:TS-0815 xref: DMBA:15691 xref: EHDAA2:0001271 xref: EHDAA:7536 xref: EMAPA:17519 xref: FMA:74628 xref: MA:0000178 xref: MESH:D010904 xref: NCIT:C12773 xref: neuronames:401 {source="BIRNLEX:1586"} xref: SCTID:245527006 xref: TAO:0001271 xref: UMLS:C0032009 {source="ncithesaurus:Posterior_Lobe_of_the_Pituitary_Gland", source="BIRNLEX:1586"} xref: UMLS:C1280368 {source="BIRNLEX:1586"} xref: VHOG:0000142 xref: Wikipedia:Neurohypophysis xref: ZFA:0001271 is_a: UBERON:0002368 ! endocrine gland relationship: part_of UBERON:0000007 ! pituitary gland relationship: part_of UBERON:0000949 ! endocrine system relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0001894 ! diencephalon property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/b/b9/Pituitary_gland_representation.PNG xsd:anyURI property_value: external_definition "The infundibular part of the pituitary gland consisting of two regions.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010537", ontology="AAO", source="AAO:BJB"} property_value: homology_notes "It (the hypophysis) develops embryonically in all vertebrates from two ectodermal evaginations that meet and unite. An infundibulum grows ventrally from the diencephalon of the brain, and Rathke's pouch extends dorsally from the roof of the developing mouth, or stomodaeum. The infundibulum remains connected to the floor of the diencephalon, which becomes the hypothalamus, and gives rise to the part of the gland known as the neurohypophysis. (...) Rathke's pouch loses its connection with the stomodaeum in most adult vertebrates and gives rise to the rest of the gland, the adenohypophysis. (...) A well-developed hypophyseal system with functional connections to the hypothalamus is unique to craniates.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000142", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.510 and Figure 15-5", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "request magnocellular cell from CL. Request oxytocin secretion from GO. Notes: 'The hypophysis or pituitary gland is derived, in part from an ectodermal outpocketing of the stomodeum (Rathke's Pouch) and in part from the floor of the diencephalon'" xsd:string {source="http://syllabus.med.unc.edu/courseware/embryo_images/"} property_value: RO:0002175 NCBITaxon:117569 {source="Ariens, p. 1192"} property_value: UBPROP:0000012 "todo - resolve EMAPA and EHDAA2 models, include future neurohypophysis (TS15-19)? relationship to infundibular recess of 3rd ventricle (TS15-19)" xsd:string {external_ontology="EMAPA"} [Term] id: UBERON:0002200 name: vasculature of head namespace: uberon def: "Vasculature that is part of a head [Automatically generated definition]." [OBOL:automatic] subset: efo_slim subset: vertebrate_core synonym: "adult head vascular network" EXACT [OBOL:automatic] synonym: "adult head vasculature" EXACT [OBOL:automatic] synonym: "cranial vasculature" EXACT [] synonym: "head vascular network" EXACT [OBOL:automatic] synonym: "head vasculature" RELATED [] synonym: "vascular network of adult head" EXACT [OBOL:automatic] synonym: "vascular network of head" EXACT [OBOL:automatic] synonym: "vasculature of adult head" EXACT [OBOL:automatic] xref: EFO:0003656 xref: FMA:74710 xref: TAO:0001267 xref: XAO:0004152 xref: ZFA:0001267 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0002049 ! vasculature intersection_of: UBERON:0002049 ! vasculature intersection_of: part_of UBERON:0000033 ! head relationship: part_of UBERON:0000033 ! head [Term] id: UBERON:0002203 name: vasculature of eye namespace: uberon def: "Vasculature that is part of the eye region." [https://sourceforge.net/tracker/?func=detail&aid=3489658&group_id=76834&atid=994726, OBOL:automatic] subset: human_reference_atlas subset: pheno_slim subset: vertebrate_core synonym: "eye vascular network" EXACT [OBOL:automatic] synonym: "eye vasculature" RELATED [] synonym: "ocular blood vessel" EXACT [ZFA:0007057] synonym: "ocular vasculature" EXACT [] synonym: "optic vasculature" RELATED [] synonym: "vascular network of eye" EXACT [OBOL:automatic] xref: FMA:74743 xref: SCTID:123846009 xref: TAO:0007057 xref: ZFA:0007057 is_a: UBERON:0002200 ! vasculature of head property_value: RO:0002175 NCBITaxon:9606 property_value: UBPROP:0000012 "not part of the eye in ZFA. Note this changed to a blood vessel in ZFA" xsd:string {external_ontology="ZFA"} [Term] id: UBERON:0002204 name: musculoskeletal system namespace: uberon def: "Anatomical system that consists of the muscular and skeletal systems." [https://github.com/obophenotype/uberon/issues/77, VSAO:0000031, VSAO:curator] subset: uberon_slim synonym: "musculo-skeletal system" EXACT [] xref: AAO:0010546 xref: CALOHA:TS-1311 xref: EMAPA:32714 xref: EV:0100139 xref: FMA:7482 xref: GAID:98 xref: MA:0002418 xref: MESH:D009141 xref: NCIT:C12754 xref: SCTID:278858007 xref: UMLS:C0026860 {source="ncithesaurus:Musculoskeletal_System"} xref: VHOG:0001275 xref: VSAO:0000031 xref: Wikipedia:Musculoskeletal_system xref: XAO:0000168 is_a: UBERON:0000467 ! anatomical system disjoint_from: UBERON:0002294 ! biliary system disjoint_from: UBERON:0002390 ! hematopoietic system disjoint_from: UBERON:0002405 ! immune system disjoint_from: UBERON:0002416 ! integumental system disjoint_from: UBERON:0002423 ! hepatobiliary system property_value: external_definition "Anatomical system that provides locomotion and physical support to the organism.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010546", ontology="AAO", source="AAO:EJS"} property_value: has_relational_adjective "musculoskeletal" xsd:string property_value: homology_notes "There are more than 50,000 extant vertebrate species, representing over 500 million years of evolution. During that time, the vertebrate musculoskeletal systems have adapted to aquatic, terrestrial, fossorial, and arboreal lifestyles, while simultaneously retaining functionally integrated axial and appendicular skeletal systems.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001275", ontology="VHOG", source="DOI:10.1002/jez.b.21246 Shearman RM, Burke AC, The lateral somitic frontier in ontogeny and phylogeny. Journal of Experimental Zoology (2009)", source="http://bgee.unil.ch/"} property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/cmungall [Term] id: UBERON:0002214 name: macula of utricle of membranous labyrinth namespace: uberon def: "The neuroepithelial sensory receptor in the inferolateral wall of the utricle; hair cells of the neuroepithelium support the statoconial membrane and have terminal arborizations of vestibular nerve fibers around their bodies; normally sensitive to linear acceleration in the longitudinal axis of the body and to gravitational influences." [MGI:anna, MP:0004333] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "macula of membranous labyrinth utricle" EXACT [OBOL:automatic] synonym: "macula of utricle" EXACT [] synonym: "macula of utriculus (labyrinthus vestibularis)" EXACT [OBOL:automatic] synonym: "macula utricle" EXACT [ZFA:0000030] synonym: "macula utriculi" EXACT LATIN [FMA:74960, FMA:TA] synonym: "macula utriculi" RELATED LATIN [Wikipedia:Macula_of_utricle] synonym: "maculae utricle" RELATED PLURAL [ZFA:0000030] synonym: "membranous labyrinth utricle macula" EXACT [OBOL:automatic] synonym: "utricle macula" EXACT [OBOL:automatic] synonym: "utricle of membranous labyrinth macula" EXACT [OBOL:automatic] synonym: "utricular macula" RELATED [] synonym: "utriculus (labyrinthus vestibularis) macula" EXACT [OBOL:automatic] xref: EFO:0003474 xref: EMAPA:35535 xref: FMA:74960 xref: MA:0001203 xref: NCIT:C33046 xref: SCTID:362568003 xref: TAO:0000030 xref: UMLS:C0229451 {source="ncithesaurus:Macula_of_Utricle"} xref: Wikipedia:Macula_of_utricle xref: ZFA:0000030 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0001846 ! internal ear property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/c/cb/Bigotolith.jpg xsd:anyURI [Term] id: UBERON:0002227 name: spiral organ of cochlea namespace: uberon def: "The organ of Corti (or spiral organ) is the organ in the inner ear of mammals that contains auditory sensory cells, or 'hair cells.' [WP,unvetted]." [Wikipedia:Organ_of_Corti] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "auditory papilla" RELATED SENSU [ISBN:9780387714691] synonym: "auditory papillae" RELATED PLURAL [ISBN:9780387714691] synonym: "basilar papilla" RELATED SENSU [XAO:0003145] synonym: "cochlear spiral organ" EXACT [] synonym: "Corti's organ" RELATED [BTO:0001691] synonym: "organ of Corti" RELATED [] synonym: "organum spirale" EXACT LATIN [Wikipedia:Organ_of_Corti] synonym: "papilla basilaris" RELATED SENSU [XAO:0003145] synonym: "spiral organ" EXACT [] synonym: "spiral organ of Corti" EXACT [] xref: BIRNLEX:2526 xref: BTO:0001691 xref: CALOHA:TS-0717 xref: EFO:0001364 xref: EMAPA:19061 xref: EV:0100364 xref: FMA:75715 xref: GAID:772 xref: MA:0001193 xref: NCIT:C33223 xref: ncithesaurus:Spiral_Organ_of_Corti xref: SCTID:279841009 xref: UMLS:C0029207 {source="BIRNLEX:2526", source="ncithesaurus:Organ_of_Corti"} xref: VHOG:0001567 xref: Wikipedia:Organ_of_Corti is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001032 ! sensory system relationship: RO:0002174 NCBITaxon:8292 ! dubious_for_taxon relationship: RO:0002174 NCBITaxon:8457 ! dubious_for_taxon property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/c/c7/Cochlea-crosssection.png xsd:anyURI property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/c/cb/Cochlea-crosssection.svg xsd:anyURI property_value: homology_notes "The auditory hair cells in tetrapods are located in the inner ear in a structure known as the basilar papilla. In mammals this structure (along with some related structure) is called the organ of Corti.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001567", ontology="VHOG", source="ISBN:978-0471210054 Butler AB and Hodos W, Comparative vertebrate neuroanatomy: Evolution and Adaptation (2005) p.33", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:40674 property_value: taxon_notes "in basal early lizards, organized into 3 tonotopically organized areas, the outer areas lack a tectorial membrane[ISBN:9780387714691]" xsd:string [Term] id: UBERON:0002228 name: rib namespace: uberon def: "An intersegmental rod-shaped bone that forms in the peritoneal membrane and attach to the vertebral parapophyses." [Wikipedia:Rib, ZFIN:curator] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "dorsal rib" RELATED [] synonym: "pleural rib" RELATED [] synonym: "ribs" RELATED PLURAL [TAO:0000538] xref: AAO:0000545 xref: CALOHA:TS-2209 xref: EFO:0003066 xref: EMAPA:18010 xref: FMA:7574 xref: GAID:245 xref: galen:Rib xref: MA:0000315 xref: MESH:D012272 xref: NCIT:C12782 xref: SCTID:302523002 xref: TAO:0000538 xref: UMLS:C0035561 {source="ncithesaurus:Rib"} xref: VHOG:0001154 xref: Wikipedia:Rib xref: ZFA:0000538 is_a: UBERON:0001474 ! bone element relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001434 ! skeletal system property_value: external_definition "Endochondral bone that is intersegmental and rod-shaped, forming in the peritoneal membrane and attached to the vertebral parapophyses. Ribs protect and support internal organs.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000538", ontology="TAO", source="ZFIN:curator"} property_value: external_definition "Endochondral, rodlike element that articulates with the transverse process and parapophysis (double-headed rib), or with the transverse process only (single-headed rib); it extends into the body wall and provides a site for muscle attachment.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000545", ontology="AAO", source="AAO:Pugener_2002"} property_value: has_relational_adjective "costal" xsd:string property_value: taxon_notes "In most vertebrates, ribs surround the chest. In some species, especially snakes, ribs may provide support and protection for the entire body" xsd:string property_value: UBPROP:0000009 "They protect and support internal organs and enable lungs to expand by expanding the chest." xsd:string [Term] id: UBERON:0002240 name: spinal cord namespace: uberon def: "Part of the central nervous system located in the vertebral canal continuous with and caudal to the brain; demarcated from brain by plane of foramen magnum. It is composed of an inner core of gray matter in which nerve cells predominate, and an outer layer of white matter in which myelinated nerve fibers predominate, and surrounds the central canal. (CUMBO)." [BIRNLEX:1709] subset: cumbo subset: efo_slim subset: human_reference_atlas subset: major_organ subset: organ_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "cerebro-cerebellar fissure" RELATED [NeuroNames:22] synonym: "cerebrocerebellar fissure" RELATED [NeuroNames:22] synonym: "fissura cerebro-cerebellaris" RELATED LATIN [NeuroNames:22] synonym: "fissura cerebrocerebellaris" RELATED LATIN [NeuroNames:22] synonym: "medulla spinalis" RELATED LATIN [BTO:0001279, Wikipedia:Spinal_cord] synonym: "SpC" RELATED ABBREVIATION [] synonym: "spinal cord structure" RELATED [ZFA:0000075] synonym: "spinal medulla" RELATED [BTO:0001279] xref: AAO:0010151 xref: BAMS:SP xref: BAMS:Spinal xref: BIRNLEX:1709 xref: BM:SpC xref: BTO:0001279 xref: CALOHA:TS-0953 xref: DHBA:12890 xref: DMBA:17651 xref: EFO:0000110 xref: EHDAA2:0001255 xref: EHDAA:2863 xref: EMAPA:17577 xref: EV:0100316 xref: FMA:7647 xref: GAID:695 xref: MA:0000216 xref: MAT:0000183 xref: MESH:D013116 xref: MIAA:0000183 xref: NCIT:C12464 xref: neuronames:22 {source="BIRNLEX:1709"} xref: SCTID:180959008 xref: TAO:0000075 xref: UMLS:C0037925 {source="ncithesaurus:Spinal_Cord", source="BIRNLEX:1709"} xref: VHOG:0000601 xref: Wikipedia:Spinal_cord xref: XAO:0000020 xref: ZFA:0000075 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001017 ! central nervous system relationship: part_of UBERON:0001137 ! dorsum property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/5/58/Spinal_cord_direv.svg xsd:anyURI property_value: external_definition "Part of the central nervous system which descends from the hindbrain within the vertebral column.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010151", ontology="AAO", source="AAO:BJB"} property_value: homology_notes "(...) at some stage of its development, every chordate exhibits five uniquely derived characters or synapomorphies of the group: (...) (4) a single, tubular nerve cord that is located dorsal to the notochord (...) (reference 1); The neural tube is destined to differentiate into the brain and spinal cord (the central nervous system) (reference 2).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000601", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.28, ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.165", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "TODO - add superclass to unify with VNC?" xsd:string property_value: RO:0002171 UBERON:0000955 {exceptions="ZFA", source="https://github.com/obophenotype/uberon/issues/378", status="pending"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0002245 name: cerebellar hemisphere namespace: uberon def: "A paired regions of the cerebellum that lie outside and lateral to the central vermis[MP]. The cerebellum consists of three parts, a median and two lateral, which are continuous with each other, and are substantially the same in structure. The median portion is constricted, and is called the vermis, from its annulated appearance which it owes to the transverse ridges and furrows upon it; the lateral expanded portions are named the hemispheres. The lateral hemisphere is considered the portion of the cerebellum to develop most recently. [WP,unvetted]." [MP:0009959, Wikipedia:Cerebellar_hemisphere] subset: pheno_slim subset: uberon_slim synonym: "cerebellar hemisphere" EXACT [] synonym: "cerebellar hemispheres" RELATED PLURAL [] synonym: "cerebellum hemisphere" EXACT [] synonym: "hemisphere of cerebellum" EXACT [FMA:76925] synonym: "hemisphere of cerebellum [H II - H X]" EXACT [] synonym: "hemispherium cerebelli" RELATED LATIN [Wikipedia:Cerebellar_hemisphere] synonym: "hemispherium cerebelli [H II - H X]" EXACT LATIN [FMA:76925, FMA:TA] synonym: "hemispherium cerebelli [hII-hX]" EXACT LATIN [FMA:76925, FMA:TA] xref: BAMS:CH xref: BIRNLEX:1575 xref: DHBA:10659 xref: DMBA:16920 xref: EMAPA:35218 xref: FMA:76925 xref: HBA:12930 xref: MA:0000200 xref: MBA:1073 xref: NCIT:C32726 xref: neuronames:1214 xref: SCTID:362411002 xref: UMLS:C0228465 {source="ncithesaurus:Hemisphere_of_the_Cerebellum"} xref: Wikipedia:Cerebellar_hemisphere is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/4/43/CerebellumDiv.png xsd:anyURI [Term] id: UBERON:0002250 name: popliteal artery namespace: uberon def: "The continuation of the femoral artery coursing through the popliteal fossa; it divides into the anterior and posterior tibial arteries." [MESH:A07.231.114.681] subset: human_reference_atlas subset: uberon_slim synonym: "arteria poplitea" RELATED LATIN [Wikipedia:Popliteal_artery] xref: EMAPA:37109 {source="MA:th"} xref: FMA:77155 xref: GAID:504 xref: MA:0002021 xref: MESH:D011150 xref: NCIT:C33337 xref: SCTID:181350008 xref: UMLS:C0032649 {source="ncithesaurus:Popliteal_Artery"} xref: Wikipedia:Popliteal_artery is_a: UBERON:0001637 ! artery relationship: part_of UBERON:0002060 ! femoral artery property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/a/a2/Popliteal_artery.png xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0002255 name: vomeronasal organ namespace: uberon def: "An organ thought to supplement the olfactory system in receiving pheromonic communication. The sensory part of the organ is in two long, thin sacs, situated on either side of the nasal septum at its base." [VHOG:0000665] subset: efo_slim subset: organ_slim subset: pheno_slim subset: uberon_slim synonym: "Jacobson's organ" EXACT [XAO:0000272] synonym: "organ of Jacobsen" RELATED [] synonym: "organon vomeronasale" EXACT LATIN [] synonym: "organum vomeronasale" EXACT LATIN [Wikipedia:Vomeronasal_organ] synonym: "VNO" RELATED [VHOG:0000665] xref: AAO:0000997 xref: BTO:0002608 xref: EFO:0001934 xref: EHDAA2:0002211 xref: EHDAA:7865 xref: EMAPA:17612 xref: FMA:77280 xref: GAID:354 xref: MA:0000289 xref: MESH:D019147 xref: neuronames:1566 xref: SCTID:361346007 xref: VHOG:0000665 xref: Wikipedia:Vomeronasal_organ xref: XAO:0000272 is_a: EFO:0000792 ! craniofacial tissue relationship: part_of UBERON:0000004 ! nose relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001032 ! sensory system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/8/84/Gray51.png xsd:anyURI property_value: external_definition "An organ thought to supplement the olfactory system in receiving pheromonic communication. The sensory part of the organ is in two long, thin sacs, situated on either side of the nasal septum at its base. [TFD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000665", ontology="VHOG", source="http://bgee.unil.ch/", source="http://medical-dictionary.thefreedictionary.com/vomeronasal+organ"} property_value: homology_notes "(...) the vomeronasal organ is known only in some tetrapods. It is absent in most turtles, crocodiles, birds, some bats, and aquatic mammals. In amphibians, it is in a recessed area off the main nasal cavity. (...) In mammals possesing this organ, it is an isolated area of olfactory membrane within the nasal cavity that is usually connected to the mouth via the nasopalatine duct (reference 1); The opinions concerning the presence and functioning of the vomeronasal organ in humans are controversial. The vomeronasal cavities appear early in human foetuses. (...) Historical examination of the nasal septum revealed the presence of vomeronasal cavities in approximately 70% of adults. In contrast to the situation in other mammals, the organ is not supported by a rigid tube of bone or cartilage (reference 2); (...) the best evidence for the homology of the human VNO to that of other primates (and of mammals in general) is ontogenetic in nature, based on a common embryonic origin from a thickening (vomeronasal primordium) on the medial aspect of each olfactory pit (reference 3); (...) suggesting that lungfish possess a region homologous to the accessory olfactory bulb of tetrapods. Based on these results, it seems appropriate to refer to the recess epithelium as a primordium of the vomeronasal organ (reference 4). [debated][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000665", ontology="VHOG", source="ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.669 (ref.1), http://www.ncbi.nlm.nih.gov/pubmed/9866877 Doving KB, Trotier D, Review: Structure and function of the vomeronasal organ. The Journal of Experimental Biology (1998) (ref.2), DOI:10.1046/j.1469-7580.2001.19810077.x Smith TD, Siegel MI, Bonar CJ, Bhatnagar KP, Mooney MP, Burrows AM, Smith MA, Maico LM, The existence of the vomeronasal organ in postnatal chimpanzees and evidence for its homology with that of humans. J Anat (2001) (ref.3) , DOI:10.1002/ar.22415 Nakamuta S, Nakamuta N, Taniguchi K, Taniguchi K, Histological and ultrastructural characteristics of the primordial vomeronasal organ in lungfish. Anat Rec (Hoboken) (2012) (ref.4)", source="http://bgee.unil.ch/"} property_value: taxon_notes "Generally formed only in tetrapods; lungfish have rudimentary VN organs; true VN organs are not normally found in recent fishes, birds, aquatic reptiles, aquatic mammals (Bertmar 1980). Humans: Its presence in many animals has been widely studied and the importance of the vomeronasal system to the role of reproduction and social behavior (through influence on anterior hypothalamus) has been shown in many studies. Its presence and functionality in humans was controversial, though most studies agree the organ regresses during fetal development. Many genes essential for VNO function in animals (such as TRPC2) are non-functional in humans (Liman ER. Use it or lose it: molecular evolution of sensory signaling in primates. Pflugers Arch. 2006;453(2):125-31.)" xsd:string [Term] id: UBERON:0002282 name: stria vascularis of cochlear duct namespace: uberon def: "The upper portion of the spiral ligament contains numerous capillary loops and small blood vessels, and is termed the stria vascularis. It produces endolymph for the scala media, one of the three fluid-filled compartments of the cochlea. [WP,unvetted]." [Wikipedia:Stria_vascularis] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "psalterial cord" EXACT [MP:0000048] synonym: "stria vascularis" EXACT [] synonym: "stria vascularis ductus cochlearis" RELATED LATIN [BTO:0001819] synonym: "stria vascularis of cochlea" EXACT [FMA:77832] synonym: "vascular stria of cochlear duct" RELATED [BTO:0001819] synonym: "vascular stripe of cochlear duct" EXACT [MP:0000048] xref: BIRNLEX:2525 xref: BTO:0001819 xref: CALOHA:TS-0982 xref: EFO:0001644 xref: EMAPA:35827 xref: FMA:77832 xref: GAID:875 xref: MA:0001198 xref: MESH:D013316 xref: SCTID:279842002 xref: UMLS:C0229477 {source="BIRNLEX:2525"} xref: Wikipedia:Stria_vascularis is_a: UBERON:0000061 ! anatomical structure property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/c/c7/Cochlea-crosssection.png xsd:anyURI property_value: UBPROP:0000012 "represented as a wall in FMA. MESH def implies part of spiral ligament but better represented as adjacency / overlaps" xsd:string {external_ontology="FMA"} [Term] id: UBERON:0002285 name: telencephalic ventricle namespace: uberon def: "A brain ventricle that is part of a telencephalon. In mammals and species with an evaginated telencephalon, this is one of a pair of lateral structures, one in each hemisphere." [https://orcid.org/0000-0002-6601-2165, Wikipedia:Lateral_ventricle] comment: modeled as space in EHDAA2 subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "forebrain ventricle" RELATED [] synonym: "lateral ventricle" EXACT HUMAN_PREFERRED [MA:0000192] synonym: "lateral ventricle of brain" RELATED [BTO:0000879] synonym: "lateral ventricles" EXACT PLURAL [] synonym: "tectal ventricle" RELATED [] synonym: "telencephalic ventricle" EXACT [VHOG:0000643, ZFA:0000696] synonym: "telencephalic ventricles" RELATED [BAMS:Tel-V] synonym: "telencephalic vesicle" RELATED [ZFA:0000696] synonym: "telencephalon lateral ventricle" EXACT [EHDAA2:0001984] xref: BAMS:LV xref: BAMS:Tel-V xref: BIRNLEX:1263 xref: BM:Tel-LV xref: BTO:0000879 xref: CALOHA:TS-1230 xref: DHBA:10596 xref: DMBA:126651562 xref: EFO:0001961 xref: EHDAA2:0001984 xref: EHDAA:3502 xref: EHDAA:6576 xref: EV:0100307 xref: FMA:78448 xref: GAID:611 xref: HBA:9419 xref: MA:0000192 xref: MBA:81 xref: MESH:D020547 xref: NCIT:C12834 xref: neuronames:209 xref: SCTID:180930008 xref: TAO:0000696 xref: UMLS:C0152279 {source="ncithesaurus:Lateral_Ventricle", source="BIRNLEX:1263"} xref: VHOG:0000643 xref: Wikipedia:Lateral_ventricle xref: ZFA:0000696 is_a: UBERON:0004086 ! brain ventricle intersection_of: UBERON:0004086 ! brain ventricle intersection_of: part_of UBERON:0001893 ! telencephalon relationship: part_of UBERON:0001893 ! telencephalon property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/7/7d/Gray734.png xsd:anyURI property_value: external_definition "The lateral ventricles are part of the ventricular system of the brain. Classified as part of the telencephalon, they are the largest of the ventricles. The lateral ventricles connect to the central third ventricle through the interventricular foramina of Monro[WP]." xsd:string {source="Wikipedia:Lateral_ventricle"} property_value: external_definition "The two lateral ventricles are a cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube. They are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle[GO]." xsd:string {source="GO:0021670"} property_value: homology_notes "The early development of most vertebrate brains is similar (...). The zebrafish neural tube follows the same basic differentiation pattern as the mammalian neural tube (reference 1); The brain develops from three embryonic enlargements of the neural tube, which later differentiate into five regions. A forebrain differentiates into telencephalon and diencephalon. The midbrain, or mesencephalon, remains undivided. The hindbrain divides into the metencephalon and myelencephalon. Cavities within the brain enlarge to form a series of interconnected ventricles (reference 2).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000643", ontology="VHOG", source="ISBN:978-0878932504 Gilbert SF, Developmental Biology (2006) p.381-382, ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.500", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0002289 name: midbrain cerebral aqueduct namespace: uberon alt_id: UBERON:0005684 def: "Part of ventricular system of brain consisting of a narrow channel in the midbrain connecting the third and fourth ventricles. (Maryann Martone)." [BIRNLEX:1261] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "aqueduct" RELATED [BAMS:AQ] synonym: "aqueduct (Sylvius)" EXACT [] synonym: "aqueduct of midbrain" EXACT [] synonym: "aqueduct of Sylvius" EXACT [] synonym: "aqueduct of Sylvius" RELATED [BAMS:AQ] synonym: "aqueductus mesencephali" EXACT LATIN [FMA:78467, FMA:TA] synonym: "aqueductus mesencephali" RELATED LATIN [Wikipedia:Cerebral_aqueduct] synonym: "cerebral aquaduct" EXACT [ZFA:0000159] synonym: "cerebral aqueduct" EXACT [MA:0000208] synonym: "cerebral aqueduct of Sylvius" EXACT [] synonym: "cerebral aqueduct proper" RELATED [BAMS:AQ] synonym: "medial tectal ventricle" EXACT NON_AMNIOTE [ZFA:0000159] synonym: "mesencephalic duct" EXACT [Wikipedia:Cerebral_aqueduct] synonym: "mesencephalic ventricle" EXACT NON_AMNIOTE [ZFA:0000159] synonym: "mesencephalic vesicle" RELATED NON_AMNIOTE [ZFA:0000159] synonym: "midbrain cerebral aqueduct" EXACT [EHDAA2:0001163] synonym: "midbrain ventricle" EXACT NON_AMNIOTE [ZFA:0000159] synonym: "Sylvian aqueduct" EXACT [Wikipedia:Cerebral_aqueduct] synonym: "tectal ventricle" EXACT NON_AMNIOTE [ZFA:0000159] xref: BAMS:AQ xref: BAMS:Aq xref: BIRNLEX:1261 xref: BM:MB-AQ xref: DHBA:10651 xref: DHBA:12369 xref: DMBA:126651722 xref: EFO:0003501 xref: EHDAA2:0001163 xref: EHDAA:3696 xref: EMAPA:17795 xref: EV:0100309 xref: FMA:78467 xref: GAID:583 xref: HBA:265505702 xref: MA:0000208 xref: MBA:140 xref: MESH:D002535 xref: NCIT:C32135 xref: ncithesaurus:Cerebral_Aqueduct xref: neuronames:509 xref: SCTID:279249003 xref: TAO:0000159 xref: UMLS:C0007769 {source="ncithesaurus:Aqueduct_of_Sylvius", source="BIRNLEX:1261"} xref: VHOG:0000832 xref: Wikipedia:Cerebral_aqueduct xref: ZFA:0000159 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0004086 ! brain ventricle relationship: part_of UBERON:0001891 ! midbrain property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/d/da/Cn3nucleus.png xsd:anyURI property_value: homology_notes "The early development of most vertebrate brains is similar (...). The zebrafish neural tube follows the same basic differentiation pattern as the mammalian neural tube (reference 1); The brain develops from three embryonic enlargements of the neural tube, which later differentiate into five regions. A forebrain differentiates into telencephalon and diencephalon. The midbrain, or mesencephalon, remains undivided. The hindbrain divides into the metencephalon and myelencephalon. Cavities within the brain enlarge to form a series of interconnected ventricles (reference 2).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000832", ontology="VHOG", source="ISBN:978-0878932504 Gilbert SF, Developmental Biology (2006) p.381-382, ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.500", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 property_value: UBPROP:0000012 "Two distinct classes in ncit. We classify this as a brain ventricle even though it is not classifically regarded as one (3rd = diencephalon, 4th = hindbrains)" xsd:string {external_ontology="ncit"} [Term] id: UBERON:0002294 name: biliary system namespace: uberon def: "Organ system subdivision that consists of the organs and ducts that are involved in the production and transportation of bile. In most species this is the gallbladder and the bile ducts (biliary tree)." [Wikipedia:Biliary_system] subset: pheno_slim subset: uberon_slim synonym: "biliary apparatus" EXACT [FMA:79646] synonym: "biliary tract" RELATED [FMA:79646, MA:0001273] xref: FMA:79646 xref: GAID:279 xref: MA:0001273 xref: MESH:D001659 xref: NCIT:C12678 xref: SCTID:361354009 xref: Wikipedia:Biliary_system is_a: UBERON:0000061 ! anatomical structure disjoint_from: UBERON:0002390 ! hematopoietic system disjoint_from: UBERON:0002405 ! immune system disjoint_from: UBERON:0002416 ! integumental system disjoint_from: UBERON:0002423 ! hepatobiliary system relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0002423 ! hepatobiliary system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/5/5d/Digestive_system_showing_bile_duct.png xsd:anyURI property_value: RO:0002171 UBERON:0016478 [Term] id: UBERON:0002298 name: brainstem namespace: uberon def: "Stalk-like part of the brain that includes amongst its parts the medulla oblongata of the hindbrain and the tegmentum of the midbrain[ZFA,MP,generalized]." [ISBN:0471888893, MP:0005277, Wikipedia:Brainstem, ZFA:0001707] comment: 'brainstem' is a loose term that sometimes refers to the ventral parts o the brain except for any part of the telencephalon - sometimes it includes the diencephalon or subpallial telencephalon structures (ISBN:0471888893). Here we use it in a more restriced sense, to include only the medulla oblongata, pons (when present) and the midbrain tegmentum (following the ZFA definitions). subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "accessory medullary lamina of pallidum" RELATED [NeuroNames:236] synonym: "brain stem" EXACT [ABA:BS] synonym: "lamella pallidi incompleta" RELATED LATIN [NeuroNames:236] synonym: "lamina medullaris accessoria" RELATED LATIN [NeuroNames:236] synonym: "lamina medullaris incompleta pallidi" RELATED LATIN [NeuroNames:236] synonym: "lamina pallidi incompleta" RELATED LATIN [NeuroNames:236] synonym: "truncus encephali" EXACT LATIN [Wikipedia:Brainstem] synonym: "truncus encephalicus" RELATED LATIN [BTO:0000146] xref: BAMS:BS xref: BIRNLEX:1565 xref: BTO:0000146 xref: CALOHA:TS-0093 xref: EFO:0001962 xref: EMAPA:32678 xref: EV:0100241 xref: FMA:79876 xref: MA:0000169 xref: MBA:343 xref: MESH:D001933 xref: NCIT:C12441 xref: neuronames:236 {source="BIRNLEX:1565"} xref: SCTID:180925009 xref: TAO:0002156 xref: UMLS:C0006121 {source="BIRNLEX:1565", source="ncithesaurus:Brain_Stem"} xref: VHOG:0001457 xref: Wikipedia:Brainstem xref: ZFA:0001707 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/b/b7/Gray719.png xsd:anyURI property_value: external_definition "Multi-tissue structure that has as its parts the medulla oblongata of the hindbrain and the tegmentum of the midbrain.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0002156", ontology="TAO", source="ISBN:3764351209"} property_value: external_definition "Multi-tissue structure that has as its parts the medulla oblongata of the hindbrain and the tegmentum of the midbrain[ZFA,adopted][ZFA:0001707]." xsd:string {source="ZFA:0001707"} property_value: external_definition "the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord[MP]" xsd:string {source="MP:0005277"} property_value: RO:0002171 UBERON:0001890 {notes="we apply a strict definition"} property_value: RO:0002171 UBERON:0002037 {exceptions="ZFA", source="ABA", source="https://github.com/obophenotype/uberon/issues/378", status="pending"} property_value: RO:0002171 UBERON:0002314 {notes="we apply a strict definition"} [Term] id: UBERON:0002299 name: alveolus of lung namespace: uberon def: "Spherical outcropping of the respiratory bronchioles and primary site of gas exchange with the blood. Alveoli are particular to mammalian lungs. Different structures are involved in gas exchange in other vertebrates[WP]." [Wikipedia:Pulmonary_alveolus] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "alveoli" RELATED PLURAL [BTO:0000060] synonym: "alveolus" BROAD [] synonym: "alveolus pulmonis" EXACT [Wikipedia:Pulmonary_alveolus] synonym: "alveolus pulmonis" RELATED LATIN [Wikipedia:Pulmonary_alveolus] synonym: "lung alveolus" EXACT [] synonym: "pulmonary alveolus" EXACT [FMA:7318] synonym: "respiratory alveoli" RELATED PLURAL [] synonym: "respiratory alveolus" EXACT [] xref: BTO:0000060 xref: CALOHA:TS-0031 xref: EFO:0001985 xref: EMAPA:32682 xref: EV:0100043 xref: FMA:7318 xref: GAID:349 xref: MA:0000420 xref: MESH:D011650 xref: SCTID:361364000 xref: VHOG:0001445 xref: Wikipedia:Pulmonary_alveolus is_a: EFO:0001986 ! lung structure is_a: UBERON:0003215 ! alveolus intersection_of: UBERON:0003215 ! alveolus intersection_of: part_of UBERON:0002048 ! lung relationship: part_of UBERON:0002048 ! lung relationship: part_of UBERON:0002169 ! alveolar sac property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/4/46/Alveolus_diagram.svg xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0002302 name: myocardium of atrium namespace: uberon def: "The atrial part of middle layer of the heart, comprised of involuntary muscle." [ISBN:0-683-40008-8, MP:0010493] subset: efo_slim subset: pheno_slim subset: vertebrate_core synonym: "atrial myocardium" EXACT [ZFA:0001374] synonym: "atrium cardiac muscle" RELATED [VHOG:0000602] synonym: "atrium myocardium" EXACT [] xref: EFO:0003087 xref: EMAPA:32746 xref: FMA:83509 xref: MA:0000081 xref: SCTID:191910002 xref: TAO:0001374 xref: VHOG:0000602 xref: ZFA:0001374 is_a: UBERON:0002349 ! myocardium intersection_of: UBERON:0002349 ! myocardium intersection_of: part_of UBERON:0002081 ! cardiac atrium relationship: part_of UBERON:0002081 ! cardiac atrium property_value: homology_notes "As noted, the hearts of birds and mammals have four chambers that arises from the two chambers (atrium and ventricle) of the fish heart.[uncertain][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000602", ontology="VHOG", source="ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.481", source="http://bgee.unil.ch/"} [Term] id: UBERON:0002314 name: midbrain tectum namespace: uberon def: "Dorsal part of the midbrain, consisting of the superior and inferior colliculi and the pretectal nuclei (MM)." [BIRNLEX:1032] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "mesencephalic tectum" EXACT [ZFA:0000445] synonym: "neuraxis tectum" EXACT [] synonym: "t. mesencephali" RELATED LATIN [Wikipedia:Midbrain_tectum] synonym: "tectum" EXACT [] synonym: "tectum mesencephali" EXACT [BTO:0001793] synonym: "tectum mesencephalicum" RELATED LATIN [NeuroNames:465] synonym: "tectum of midbrain" RELATED [NeuroNames:465] xref: BAMS:MTec xref: BAMS:Tec xref: BIRNLEX:1032 xref: BM:MB-Tec xref: BTO:0001793 xref: DHBA:12291 xref: EFO:0000920 xref: EHDAA2:0004474 xref: EMAPA:19051 xref: FMA:83902 xref: HBA:9101 xref: MA:0000211 xref: MAT:0000451 xref: NCIT:C12460 xref: neuronames:465 {source="BIRNLEX:1032"} xref: SCTID:362394008 xref: TAO:0001353 xref: UMLS:C0039433 {source="ncithesaurus:Tectum_Mesencephali", source="BIRNLEX:1032"} xref: VHOG:0001388 xref: Wikipedia:Midbrain_tectum is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0001891 ! midbrain property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/c/cf/Gray685.png xsd:anyURI property_value: homology_notes "The tectum - a multisensory, topologically mapped structure in the roof of the midbrain presents a remarkable degree of conservation in all vertebrate radiations; although it varies in the extent of its development in different vertebrate classes, there is considerable evidence now to deem its layered structure, its cell types, and its hodological pattern as homologous in all vertebrates.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001388", ontology="VHOG", source="DOI:10.1371/journal.pone.0003582 Maximino C, Evolutionary Changes in the Complexity of the Tectum of Nontetrapods: A Cladistic Approach. PLoS ONE (2008)", source="http://bgee.unil.ch/"} property_value: taxon_notes "In adult humans it is present only in the mesencephalon as the inferior and the superior colliculi" xsd:string {source="WP"} [Term] id: UBERON:0002331 name: umbilical cord namespace: uberon def: "The connecting cord from the developing embryo to the placenta." [ISBN:0-683-40008-8, MP:0001725, PMID:9144284, Wikipedia:Umbilical_cord] comment: See notes for connecting stalk subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "birth cord" RELATED [Wikipedia:Umbilical_cord] synonym: "chorda umbilicalis" EXACT LATIN [MP:0012134] synonym: "connecting stalk" RELATED [] synonym: "funiculus umbilicalis" EXACT LATIN [MP:0012134] synonym: "funiculus umbilicalis" RELATED LATIN [Wikipedia:Umbilical_cord] synonym: "yolk stalk" RELATED [BTO:0001415] xref: BTO:0001415 xref: CALOHA:TS-1078 xref: EFO:0001415 xref: EHDAA2:0000312 xref: EHDAA:158 xref: EMAPA:26115 xref: EV:0100127 xref: FMA:85541 xref: GAID:517 xref: MAT:0000280 xref: MESH:D014470 xref: MIAA:0000280 xref: NCIT:C34320 xref: SCTID:280644003 xref: UMLS:C0041633 {source="ncithesaurus:Umbilical_Cord"} xref: Wikipedia:Umbilical_cord is_a: UBERON:0001062 ! anatomical entity property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/f/f3/Umbilicalcord.jpg xsd:anyURI property_value: external_definition "The connecting cord from the developing embryo or fetus to the placenta. During prenatal development, the umbilical cord comes from the same zygote as the fetus and (in humans) normally contains two arteries (the umbilical arteries) and one vein (the umbilical vein), buried within Wharton's jelly. The umbilical vein supplies the fetus with oxygenated, nutrient-rich blood from the placenta.property_value, external_definition the umbilical arteries return the deoxygenated, nutrient-depleted blood[WP]." xsd:string {source="Wikipedia:Umbilical_cord"} property_value: has_relational_adjective "umbilical" xsd:string property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0002333 name: pulmonary trunk namespace: uberon def: "An arterial trunk which is continuous with the heart and branches into the pulmonary arteries." [http://orcid.org/0000-0002-6601-2165] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "main pulmonary artery" RELATED [Wikipedia:Pulmonary_artery] synonym: "pulmonary artery (trunk)" EXACT [] synonym: "trunk of pulmonary arterial tree" EXACT [] xref: EHDAA2:0001576 xref: EHDAA:9831 xref: EMAPA:17015 xref: FMA:8612 xref: galen:PulmonaryTrunk xref: MA:0002033 xref: NCIT:C116918 xref: VHOG:0001134 is_a: UBERON:0001637 ! artery property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/d/db/Alveoli_diagram.png xsd:anyURI property_value: external_definition "An arterial trunk with origin from the right ventricle of the heart, and dividing into the right and left pulmonary arteries, which enter the corresponding lungs and branch with the bronchi. [TFD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001134", ontology="VHOG", source="http://bgee.unil.ch/", source="http://medical-dictionary.thefreedictionary.com/pulmonary+trunk"} property_value: homology_notes "As in birds, the conus arteriosus split during embryonic development in mammals to produce the pulmonary trunk and single aortic trunk of the adult.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001134", ontology="VHOG", source="ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.481", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0002335 name: macula densa namespace: uberon def: "The macula densa is an area of specialized cells in the distal tubule that makes contact with the vascular pole of the glomerulus[GO]." [GO:0072024, Wikipedia:Macula_densa] subset: human_reference_atlas subset: pheno_slim subset: uberon_slim xref: BTO:0003940 xref: EMAPA:28399 xref: FMA:86333 xref: MA:0002603 xref: NCIT:C33043 xref: SCTID:244657003 xref: UMLS:C0227662 {source="ncithesaurus:Macula_Densa"} xref: Wikipedia:Macula_densa is_a: UBERON:0000483 ! epithelium relationship: part_of UBERON:0001285 ! nephron relationship: part_of UBERON:0001292 ! distal convoluted tubule relationship: part_of UBERON:0002113 ! kidney relationship: part_of UBERON:0004135 ! distal tubule property_value: RO:0002175 NCBITaxon:9606 property_value: UBPROP:0000012 "not part of a nephron or distal tubule in MA and FMA" xsd:string {external_ontology="MA"} [Term] id: UBERON:0002336 name: corpus callosum namespace: uberon def: "White matter structure containing massive numbers of commissural fibers connecting cortical areas in the two cerebral hemispheres.it is subdivided into a genu, a rostrum, a body, and a splenium. (MM)." [BIRNLEX:1087] subset: efo_slim subset: pheno_slim subset: uberon_slim xref: BAMS:CC xref: BAMS:cc xref: BIRNLEX:1087 xref: BM:Tel-CC xref: BTO:0000615 xref: CALOHA:TS-0180 xref: DHBA:10561 xref: EFO:0001390 xref: EMAPA:35253 xref: EV:0100305 xref: FMA:86464 xref: GAID:683 xref: HBA:9222 xref: MA:0000188 xref: MAT:0000286 xref: MBA:776 xref: MESH:D003337 xref: MIAA:0000286 xref: NCIT:C12446 xref: neuronames:191 xref: SCTID:362354006 xref: UMLS:C0010090 {source="BIRNLEX:1087", source="ncithesaurus:Corpus_Callosum"} xref: VHOG:0001608 xref: Wikipedia:Corpus_callosum is_a: UBERON:0000061 ! anatomical structure relationship: never_in_taxon NCBITaxon:9255 {source="Wikipedia"} relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0001017 ! central nervous system relationship: part_of UBERON:0001893 ! telencephalon property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/a/aa/Gray733.png xsd:anyURI property_value: external_definition "The largest commissure of the brain connecting the cerebral hemispheres. [TFD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001608", ontology="VHOG", source="http://bgee.unil.ch/", source="http://medical-dictionary.thefreedictionary.com/corpus+callosum"} property_value: homology_notes "In addition to the anterior commissure, placental mammals have a phylogenetically new forebrain commissure, the corpus callosum, which primarily interconnects the neocortex of the cerebral hemispheres.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001608", ontology="VHOG", source="DOI:10.1111/j.1749-6632.1969.tb20447.x Ebner FF, A comparison of primitive forebrain organization in metatherian and eutherian mammals. Annals of the New York Academy of Sciences (1969)", source="http://bgee.unil.ch/"} property_value: taxon_notes "The corpus callosum is found only in placental mammals. other groups do have other brain structures that allow for communication between the two hemispheres, such as the anterior commissure, which serves as the primary mode of interhemispheric communication in marsupials." xsd:string {source="Wikipedia:Corpus_callosum#Species_Differences"} [Term] id: UBERON:0002345 name: descending thoracic aorta namespace: uberon def: "The part of the aorta that extends from the arch of the aorta to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest." [MP:0009868] subset: efo_slim subset: human_reference_atlas subset: pheno_slim xref: EFO:0002527 xref: EMAPA:18605 xref: FMA:87217 xref: MA:0002572 xref: SCTID:181301002 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0001515 ! thoracic aorta property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0002349 name: myocardium namespace: uberon def: "The middle layer of the heart, comprised mainly of striated cardiac muscle fibers." [ISBN:0-683-40008-8, MP:0005329] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "cardiac muscle" RELATED [ZFA:0001319] synonym: "heart muscle" RELATED [FMA:9462, ZFA:0001319] synonym: "heart myocardium" EXACT [] synonym: "muscle of heart" EXACT [FMA:9462] xref: AAO:0010410 xref: BSA:0000089 xref: BTO:0000901 xref: CALOHA:TS-0440 xref: EFO:0000819 xref: EHDAA2:0004150 xref: EMAPA:32688 xref: EV:0100022 xref: FMA:9462 xref: GAID:173 xref: galen:Myocardium xref: MA:0000164 xref: MAT:0000453 xref: MESH:D009206 xref: NCIT:C12371 xref: RETIRED_EHDAA2:0001220 xref: SCTID:362012001 xref: TAO:0001319 xref: UMLS:C0027061 {source="ncithesaurus:Myocardium"} xref: VHOG:0000083 xref: Wikipedia:Myocardium xref: XAO:0000065 xref: ZFA:0001319 is_a: EFO:0001955 ! heart component relationship: part_of UBERON:0000383 ! musculature of body relationship: part_of UBERON:0000948 ! heart property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/6/6e/Glanzstreifen.jpg xsd:anyURI property_value: external_definition "Robust muscular tunic of the heart which forms the basic part of its walls. Its external surface is covered by the pericardium and its internal one by the endocardium. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000083", ontology="VHOG", source="http://bgee.unil.ch/"} property_value: external_definition "The middle layer of the heart, consisting of cardiac muscle.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010410", ontology="AAO", source="AAO:BJB"} property_value: has_relational_adjective "myocardial" xsd:string property_value: IAO:0000116 "TODO - check 'Myocardum proper' in FMA. We superclass the more generic class for now. FMA has is_a muscle layer - should we add this? ZFA and BTO both have is_a 'cardiac muscle' (tissue?). But in U we also follow FMA and have cardiac muscle tissue of myocardium (there is also Fibrocollagenous connective tissue of myocardium), which would be identical (see issue-10). Note that GO also treats left/right ventricular cardiac muscle tissue synonymous with ventricular myocardium" xsd:string [Term] id: UBERON:0002350 name: conducting system of heart namespace: uberon def: "The cardiac conduction system consists of specialized cardiomyocytes that regulate the frequency of heart beat[GO]." [GO:0003161] subset: efo_slim subset: pheno_slim subset: vertebrate_core synonym: "cardiac conducting system" EXACT [VHOG:0001271] synonym: "cardiac conduction system" EXACT [] synonym: "cardiac impulse conducting system" EXACT [GO:0003161] synonym: "cardionector" EXACT [] synonym: "central conduction system" RELATED [] synonym: "complexus stimulans cordis" EXACT LATIN [FMA:9476, FMA:TA] synonym: "heart conduction system" EXACT [GO:0003161] synonym: "impulse conducting system" EXACT [MA:0000094] synonym: "systema conducente cordis" EXACT LATIN [FMA:9476, FMA:TA] xref: EFO:0003909 xref: EHDAA2:0004185 xref: EMAPA:35428 xref: EV:0100025 xref: FMA:9476 xref: MA:0000094 xref: MESH:D006329 xref: SCTID:281489000 xref: TAO:0005063 xref: VHOG:0001271 xref: ZFA:0005063 is_a: EFO:0001955 ! heart component relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0001015 ! musculature relationship: part_of UBERON:0002349 ! myocardium property_value: homology_notes "The fish heart displays clear polarity of contraction in a posterior-to-anterior direction. The contraction waves originate in the sinus venosus and terminate in the conus arteriosus. The nodal phenotype persists in the inflow region of the heart, varying from the venosinus to the sinoatrial junctional areas in different species . Similar to the mammalian situation, pacemaker tissue with a lower intrinsic rhythmicity is also found at the atrioventricular junction.[uncertain][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001271", ontology="VHOG", source="DOI:10.1152/physrev.00006.2003 Moorman AFM, Christoffels VM, Cardiac Chamber Formation: Development, Genes, and Evolution. Physiological Reviews (2003)", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "EHDAA2 divides the system from the tissue" xsd:string [Term] id: UBERON:0002352 name: atrioventricular node namespace: uberon def: "An area of conducting tissue between the atria and the ventricles of the heart that conducts the normal electrical impulse from the atria to the ventricles." [UBERON:cjm, Wikipedia:Atrioventricular_node] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "A-V node" RELATED [EMAPA:35153] synonym: "Aschoff-Tawara node" EXACT [FMA:9478] synonym: "atrio-ventricular node" RELATED [EMAPA:35153] synonym: "atrioventricular nodal muscle tissue" EXACT [FMA:9478] synonym: "atriovetricular node" RELATED [TAO:0005070] synonym: "AV nodal muscle tissue" EXACT [FMA:9478] synonym: "AV node" EXACT [FMA:9478, MA:0000095] synonym: "downstream pacemaker" RELATED [ZFA:0005070] synonym: "node of Tawara" EXACT [FMA:9478] synonym: "nodus atrioventricularis" EXACT LATIN [FMA:TA] synonym: "nodus atrioventricularis" RELATED LATIN [Wikipedia:Atrioventricular_node] xref: BTO:0005689 xref: EFO:0000276 xref: EHDAA2:0004183 xref: EMAPA:35153 xref: FMA:9478 xref: GAID:558 xref: MA:0000095 xref: MAT:0000498 xref: MESH:D001283 xref: NCIT:C32161 xref: SCTID:277688002 xref: TAO:0005070 xref: UMLS:C0004247 {source="ncithesaurus:Atrioventricular_Node"} xref: VHOG:0001474 xref: Wikipedia:Atrioventricular_node xref: ZFA:0005070 is_a: EFO:0001955 ! heart component relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0001015 ! musculature relationship: part_of UBERON:0002349 ! myocardium relationship: part_of UBERON:0002350 ! conducting system of heart property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/5/50/ConductionsystemoftheheartwithouttheHeart.png xsd:anyURI property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/9/92/Gray501.png xsd:anyURI property_value: homology_notes "Three major adaptations, or 'novel cardiac components', that were not present in the ancestor chordate heart tube can be distinguished in the lower vertebrate heart: the atrium, ventricle, and possibly the muscular sinus venosus. Furthermore, within the ventricular component a compact outer myocardial component and an interiorly localized extensive trabecular component can be distinguished. The specific activation of the ventricle adds to its complexity as follows. The depolarizing impulse travels rapidly from the atrioventricular node toward the apex and then toward the conal region, achieving activation from apex to base.[uncertain][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001474", ontology="VHOG", source="DOI:10.1152/physrev.00006.2003 Moorman AFM, Christoffels VM, Cardiac Chamber Formation: Development, Genes, and Evolution. Physiological Reviews (2003)", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0002355 name: pelvic region of trunk namespace: uberon def: "The lower segment of the trunk, inferioposterior to the abdomen proper, in the transition area between the trunk and the lower limbs." [http://orcid.org/0000-0002-6601-2165, https://github.com/obophenotype/uberon/issues/720, Wikipedia:Pelvis] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "lesser pelvis" EXACT [FMA:9578] synonym: "pelvic region" EXACT [] synonym: "pelvis" EXACT [FMA:9578, MA:0000030] synonym: "pelvis region" EXACT [] synonym: "true pelvis" EXACT [FMA:9578] xref: BTO:0001006 xref: CALOHA:TS-2227 xref: EFO:0002805 xref: EMAPA:35931 xref: EV:0100012 xref: FMA:9578 xref: GAID:87 xref: galen:Pelvis xref: MA:0000030 xref: MESH:D010388 xref: NCIT:C12767 xref: SCTID:229765004 xref: UMLS:C0030797 {source="ncithesaurus:Pelvis"} xref: Wikipedia:Pelvis is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000468 ! multicellular organism property_value: has_relational_adjective "pelvic" xsd:string property_value: UBPROP:0000012 "MA and FMA differ in what they consider to be parts of the pelvis. MA includes ureter, urethra, urinary bladder, reproductive organs" xsd:string {external_ontology="MA"} [Term] id: UBERON:0002356 name: perineum namespace: uberon def: "Subdivision of trunk proper, which is demarcated from the pelvis by the inferior surface of the pelvic diaphragm and from the lower limbs by the perineofemoral lines; together with the thorax, abdomen, and pelvis, it constitutes the trunk[FMA]." [FMA:9579, Wikipedia:Perineum] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "perineal region" EXACT [] synonym: "regio perinealis" EXACT LATIN [FMA:9579, FMA:TA] xref: EFO:0004141 xref: EHDAA2:0004015 xref: EMAPA:36628 xref: EV:0100013 xref: FMA:9579 xref: GAID:90 xref: galen:Perineum xref: MA:0002466 xref: MESH:D010502 xref: NCIT:C33301 xref: SCTID:243990009 xref: UMLS:C0031066 {source="ncithesaurus:Perineum"} xref: Wikipedia:Perineum is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0002100 ! trunk property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/e/ef/Gray406.png xsd:anyURI property_value: has_relational_adjective "perianal" xsd:string property_value: UBPROP:0000012 "FMA has class anal part of perineum, which may be the same as what EHDAA2 calls perineum" xsd:string {external_ontology="FMA"} [Term] id: UBERON:0002358 name: peritoneum namespace: uberon def: "A serous membrane that lines the peritoneal cavity[VHOG,modified]." [VHOG:0001257] subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "peritonaeum" RELATED [VHOG:0001257] xref: AAO:0010814 xref: BTO:0001472 xref: CALOHA:TS-2072 xref: EV:0100087 xref: FMA:9584 xref: GAID:18 xref: galen:Peritoneum xref: MA:0000449 xref: MESH:D010537 xref: NCIT:C12770 xref: TAO:0005120 xref: UMLS:C0031153 {source="ncithesaurus:Peritoneum"} xref: VHOG:0001257 xref: Wikipedia:Peritoneum xref: XAO:0000139 xref: ZFA:0005120 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0003697 ! abdominal wall property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/5/5f/Gray1040.png xsd:anyURI property_value: external_definition "An epithelium that lines the peritoneal cavity.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0005120", ontology="TAO", source="ZFIN:curator"} property_value: external_definition "Serous membrane that forms the lining of the abdominal cavity or the coelom. It covers most of the intra-abdominal organs, supports the abdominal organs, and serves as a conduit for their blood and lymph vessels and nerves. It is composed of a layer of mesothelium.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010814", ontology="AAO", source="AAO:JMG"} property_value: has_relational_adjective "peritoneal" xsd:string property_value: IAO:0000116 "TODO - in ZFA is_a epithelium" xsd:string property_value: UBPROP:0000012 "todo: check MA/EMAPA." xsd:string {external_ontology="MA"} [Term] id: UBERON:0002360 name: meninx namespace: uberon def: "Membrane organ that surrounds the brain and the spinal cord." [FMA:9589, http://www.shsu.edu/~bio_mlt/Chap15.html, Wikipedia:Meninx] subset: efo_slim subset: organ_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "layer of meninges" EXACT [] synonym: "meningeal layer" EXACT [] synonym: "meninx primitiva" NARROW [VHOG:0001295] xref: BTO:0000144 xref: CALOHA:TS-1177 xref: EFO:0000867 xref: EMAPA:32660 xref: EV:0100312 xref: FMA:9589 xref: GAID:687 xref: MA:0001113 xref: MAT:0000113 xref: MESH:D008578 xref: NCIT:C12348 xref: NLXANAT:090204 xref: TAO:0001355 xref: UMLS:C0025285 {source="ncithesaurus:Meninges"} xref: VHOG:0001295 xref: Wikipedia:Meninx xref: ZFA:0001355 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0010743 ! meningeal cluster relationship: UBPROP:0000202 FMA:76821 ! fma_set_term property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/4/48/Illu_meninges.jpg xsd:anyURI property_value: external_definition "Membrane covering the brain and spinal cord. It is represented by a single layer in fishes, two in amphibians, reptiles and birds and three in mammals (named dura mater, arachnoid and pia mater). [TFD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001295", ontology="VHOG", source="http://bgee.unil.ch/", source="http://medical-dictionary.thefreedictionary.com/meninges"} property_value: has_relational_adjective "meningeal" xsd:string property_value: homology_notes "In fishes, the meninges consist of a single membrane, the primitive meninx, wrapped around the brain and spinal cord. With the adoption of terrestrial life, the meninges doubled. In amphibians, reptiles, and birds, the meninges include a thick outer dura mater derived from mesoderm and a thin inner secondary meninx. (...) In mammals, the dura mater persists, but division of the secondary meninx yields both the arachnoid and the pia mater from ectomesoderm.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001295", ontology="VHOG", source="ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.639", source="http://bgee.unil.ch/"} property_value: taxon_notes "Whereas cyclostomes and fishes only have a single envelope called the primitive meninx, amphibians have two layers, consisting of an outer dura mater which is extremely dense and protective, and a pia-arachnoid or secondary meninx which is more delicate and vascular. Mammals have three meninges: pia mater (which follows all the convolutions of the brain and is the most interior), the arachnoid layer (which is delicate and sends strands to the pia mater), and the dura mater (the outer, more protective meninx)." xsd:string property_value: UBPROP:0000012 "Not consider part of the CNS/neuraxis in FMA" xsd:string {external_ontology="FMA", seeAlso="https://github.com/obophenotype/uberon/issues/1261"} [Term] id: UBERON:0002367 name: prostate gland namespace: uberon def: "The prostate gland is a partly muscular, partly glandular body that is situated near the base of the mammalian male urethra and secretes an alkaline viscid fluid which is a major constituent of the ejaculatory fluid." [GO:0030850, Wikipedia:Prostate] subset: efo_slim subset: human_reference_atlas subset: major_organ subset: organ_slim subset: pheno_slim subset: uberon_slim synonym: "male prostate" EXACT [PMID:10668204] synonym: "prostata" RELATED LATIN [Wikipedia:Prostate] synonym: "prostate" EXACT [] xref: BTO:0001129 xref: CALOHA:TS-0828 xref: EFO:0000858 xref: EMAPA:19287 xref: EV:0100104 xref: FMA:9600 xref: GAID:392 xref: galen:ProstateGland xref: MA:0000404 xref: MAT:0000078 xref: MESH:D011467 xref: MIAA:0000078 xref: NCIT:C12410 xref: SCTID:181422007 xref: UMLS:C0033572 {source="ncithesaurus:Prostate_Gland"} xref: VHOG:0001261 xref: Wikipedia:Prostate is_a: UBERON:0010147 ! male accessory sex gland property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/a/a1/Prostatelead.jpg xsd:anyURI property_value: has_relational_adjective "prostatic" xsd:string property_value: IAO:0000116 "TODO - FMA treats the gland as part of the prostate - see also FMA:74119." xsd:string property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0002368 name: endocrine gland namespace: uberon def: "Endocrine glands are glands of the endocrine system that secrete their products directly into the circulatory system rather than through a duct.[WP, modified]." [Wikipedia:Endocrine_gland] subset: organ_slim subset: pheno_slim subset: uberon_slim synonym: "ductless gland" EXACT [AEO:0000098] synonym: "ductless gland" RELATED [Wikipedia:Ductless_gland] synonym: "glandula endocrina" EXACT [] synonym: "glandulae endocrinae" RELATED LATIN [Wikipedia:Endocrine_gland] xref: AEO:0000098 xref: BTO:0001488 xref: CALOHA:TS-1300 xref: EHDAA2:0003098 xref: EMAPA:35999 xref: FMA:9602 xref: GAID:335 xref: MA:0002563 xref: MESH:D004702 xref: NCIT:C12704 xref: SCTID:40818001 xref: UMLS:C0014133 {source="ncithesaurus:Endocrine_Gland"} xref: Wikipedia:Endocrine_gland is_a: UBERON:0002530 ! gland intersection_of: UBERON:0002530 ! gland intersection_of: part_of UBERON:0000949 ! endocrine system relationship: part_of UBERON:0000949 ! endocrine system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/d/da/Illu_endocrine_system.png xsd:anyURI [Term] id: UBERON:0002370 name: thymus namespace: uberon def: "Anatomical structure of largely lymphoid tissue that functions in cell-mediated immunity by being the site where T cells develop." [NLM:thymus, Wikipedia:Thymus] subset: efo_slim subset: human_reference_atlas subset: major_organ subset: organ_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "thymus gland" EXACT [] synonym: "thymus organ" EXACT [] xref: AAO:0010548 xref: BTO:0001374 xref: CALOHA:TS-1043 xref: EFO:0000860 xref: EHDAA2:0002017 xref: EHDAA:9119 xref: EMAPA:18768 xref: EV:0100138 xref: FMA:9607 xref: GAID:464 xref: MA:0000142 xref: MAT:0000080 xref: MESH:D013950 xref: MIAA:0000080 xref: NCIT:C12433 xref: SCTID:118507000 xref: TAO:0001078 xref: UMLS:C0040113 {source="ncithesaurus:Thymus_Gland"} xref: VHOG:0000253 xref: Wikipedia:Thymus xref: XAO:0000163 xref: ZFA:0001078 is_a: UBERON:0002368 ! endocrine gland relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0000949 ! endocrine system relationship: part_of UBERON:0002390 ! hematopoietic system relationship: part_of UBERON:0002405 ! immune system property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/c/cf/Illu_thymus.jpg xsd:anyURI property_value: external_definition "Anatomical structure which originates as several paired thickenings on the dorsal side of the pharyngeal pouches and secretes thymosin.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010548", ontology="AAO", source="AAO:BJB"} property_value: has_relational_adjective "thymic" xsd:string property_value: homology_notes "A thymus develops in all vertebrates from the endodermal epithelium of certain pharyngeal pouches and from the adjacent ectodermal epithelium. In fishes, all the pouches, or the first four, contribute to thymus formation, but in tetrapods, the number is more restricted. In mammals, only the third and fourth are involved, and the contribution of the third is by far the greater.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000253", ontology="VHOG", source="ISBN:978-0878932504 Gilbert SF, Developmental Biology (2006) p.558", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "check - a subtype of gland? not in GO. NCIT has thymus and thymus gland. EHDAA2 has ductless gland." xsd:string property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0002371 name: bone marrow namespace: uberon def: "The soft tissue that fills the cavities of bones." [MGI:cwg, MP:0002397] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "medulla of bone" RELATED [BTO:0000141] synonym: "medulla ossea" EXACT LATIN [BTO:0000141, FMA:9608] synonym: "medulla ossium" EXACT LATIN [BTO:0000141, Wikipedia:Bone_marrow] synonym: "medullary bone" RELATED [] xref: AAO:0011007 xref: BTO:0000141 xref: BTO:0000829 xref: CALOHA:TS-0087 xref: EFO:0000868 xref: EMAPA:32760 xref: EV:0100046 xref: FMA:9608 xref: GAID:1287 xref: galen:BoneMarrow xref: MA:0000134 xref: MAT:0000084 xref: MESH:D001853 xref: MIAA:0000084 xref: NCIT:C12431 xref: SCTID:421320006 xref: UMLS:C0005953 {source="ncithesaurus:Bone_Marrow"} xref: VHOG:0001218 xref: Wikipedia:Bone_marrow xref: XAO:0000123 is_a: EFO:0003858 ! skeleton structure relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0001474 ! bone element relationship: part_of UBERON:0002390 ! hematopoietic system relationship: part_of UBERON:0002405 ! immune system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/7/74/Gray72-en.svg xsd:anyURI property_value: homology_notes "The bone marrow is the hematopoietic organ in all vertebrates but fishes, in which hematopoiesis occurs in the kidney.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001218", ontology="VHOG", source="DOI:10.1146/annurev.cellbio.22.010605.093317 Hartenstein V, Blood Cells and Blood Cell Development in the Animal Kingdom. Annual Review of Cell and Developmental Biology (2006)", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "consider placement of NCIT:C53466 medullary bone" xsd:string property_value: IAO:0000116 "TODO - create superclass for bone marrow / head kidney. both are portions of tissue in the hematopoetic system. also consider adding as subclass of zone of bone organ for consistency with FMA. See also: Leydig and epigonal organs" xsd:string property_value: RO:0002175 NCBITaxon:9606 property_value: UBPROP:0000009 "In adults, marrow in large bones produces new blood cells[Wikipedia:Bone_marrow]" xsd:string [Term] id: UBERON:0002372 name: tonsil namespace: uberon def: "Either of the two small almond-shaped masses of lymph tissue found on either side of the oropharynx." [MGI:cwg, MP:0002380] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "Mandel" RELATED [BTO:0001387] xref: BTO:0001387 xref: CALOHA:TS-1053 xref: EFO:0001401 xref: EMAPA:35871 xref: EV:0100052 xref: FMA:9609 xref: GAID:341 xref: MA:0000143 xref: MESH:D014066 xref: NCIT:C12802 xref: neuronames:671 xref: UMLS:C0836921 {source="ncithesaurus:Tonsil"} xref: UMLS:C1519547 {source="ncithesaurus:Tonsilar_Tissue"} xref: UMLS:C1519548 {source="ncithesaurus:Tonsillar_Lymphoid_Tissue"} xref: VHOG:0001139 xref: Wikipedia:Tonsil is_a: UBERON:0001744 ! lymphoid tissue property_value: IAO:0000232 "the term 'tonsil' can be ambiguous, sometimes refering specifically to the palatine tonsil, sometimes generically to include the cecal tonsils of avians. This class represents lymphoid tissue that is part of the tonsillar ring, in the mouth/throat region" xsd:string [Term] id: UBERON:0002373 name: palatine tonsil namespace: uberon def: "Tonsils on the left and right sides at the back of the throat. one of the mucosa-associated lymphoid tissues (MALT), located at the entrance to the upper respiratory and gastrointestinal tracts to protect the body from the entry of exogenous material through mucosal sites[WP]." [Wikipedia:Palatine_tonsil] subset: efo_slim subset: uberon_slim synonym: "faucial tonsil" EXACT [] synonym: "tonsil" BROAD [] synonym: "tonsilla palatina" RELATED LATIN [Wikipedia:Palatine_tonsil] xref: BTO:0004714 xref: EFO:0001977 xref: EMAPA:35644 xref: EV:0100393 xref: FMA:9610 xref: MA:0000775 xref: MAT:0000291 xref: MESH:D014066 xref: MIAA:0000291 xref: NCIT:C33250 xref: SCTID:265787001 xref: UMLS:C0040421 {source="ncithesaurus:Palatine_Tonsil"} xref: VHOG:0001140 xref: Wikipedia:Palatine_tonsil is_a: UBERON:0002372 ! tonsil relationship: RO:0002174 NCBITaxon:9989 {source="PMID:20144910"} ! dubious_for_taxon property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/f/f6/Illu_mouth.jpg xsd:anyURI property_value: UBPROP:0000011 "tonsillar fossa develops from dorsal portion of pouch 2. Note that pharyngeal and lingual tonsils do not develop from pharyngeal pouches" xsd:string {source="ISBN:1607950324"} [Term] id: UBERON:0002374 name: metacarpal bone namespace: uberon def: "A bone that is part of the metacarpal skeleton." [https://orcid.org/0000-0002-6601-2165, Wikipedia:Metacarpal_bone] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "metacarpal" EXACT [] xref: EFO:0003886 xref: EMAPA:36158 xref: FMA:9612 xref: galen:Metacarpal xref: MA:0000302 xref: NCIT:C12751 xref: SCTID:181977005 xref: SCTID:425761003 xref: UMLS:C0025526 {source="ncithesaurus:Metacarpal_Bone"} xref: Wikipedia:Metacarpal_bone is_a: UBERON:0002428 ! limb bone relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001434 ! skeletal system relationship: part_of UBERON:0002091 ! appendicular skeleton relationship: part_of UBERON:0002101 ! limb relationship: part_of UBERON:0002102 ! forelimb property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/2/2f/Metacarpals_numbered-en.svg xsd:anyURI [Term] id: UBERON:0002376 name: cranial muscle namespace: uberon alt_id: UBERON:0003899 def: "Any skeletal muscle that is part of the head region." [http://orcid.org/0000-0002-6601-2165] comment: defined generically so could in theory encompass FBbt:00003260 'skeletal muscle of head', or the muscle of a starfish Aristotle's lantern, but we restrict this to craniates. Skeletal muscles of the head originate from the non-segmented head mesoderm (Noden, 1983; Wachtler et al., 1984) subset: efo_slim subset: human_reference_atlas subset: uberon_slim subset: vertebrate_core synonym: "adult head muscle organ" NARROW [OBOL:automatic] synonym: "cephalic muscle" EXACT [ZFA:0001652] synonym: "cephalic musculature" EXACT [] synonym: "cranial muscle" RELATED [ZFA:0001652] synonym: "head muscle" EXACT [MA:0000578] synonym: "head muscle organ" EXACT [OBOL:automatic] synonym: "head muscles" RELATED [] synonym: "muscle of head" EXACT [FMA:9616] synonym: "muscle organ of adult head" EXACT [OBOL:automatic] synonym: "muscle organ of head" EXACT [OBOL:automatic] synonym: "musculus caput" EXACT [] xref: AAO:0000107 xref: BTO:0000021 xref: EFO:0003524 xref: EHDAA2:0000322 xref: EMAPA:18172 xref: FMA:9616 xref: MA:0000578 xref: SCTID:244718003 xref: ZFA:0001652 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0014892 ! skeletal muscle organ relationship: part_of UBERON:0000033 ! head property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0002381 name: pectoralis major namespace: uberon def: "The pectoralis major is a thick, fan-shaped muscle, situated at the upper front of the chest wall. It makes up the bulk of the chest muscles in the male and lies under the breast in the female. Underneath the pectoralis major is the pectoralis minor, a thin, triangular muscle. [WP,unvetted]." [Wikipedia:Pectoralis_major_muscle] subset: human_reference_atlas subset: organ_slim subset: pheno_slim subset: uberon_slim synonym: "musculus pectoralis major" RELATED LATIN [Wikipedia:Pectoralis_major_muscle] synonym: "pectoralis major muscle" EXACT [] synonym: "pectoralis major muscle structure" EXACT [] xref: EHDAA2:0001424 xref: EHDAA:8311 xref: EMAPA:18179 xref: FMA:9627 xref: MA:0002354 xref: NCIT:C33284 xref: SCTID:181624003 xref: UMLS:C0585574 {source="ncithesaurus:Pectoralis_Major"} xref: VHOG:0000895 xref: Wikipedia:Pectoralis_major_muscle is_a: UBERON:0001495 ! pectoral muscle property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/6/6c/Pectoralis_major.png xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0002384 name: connective tissue namespace: uberon def: "Tissue with cells that deposit non-polarized extracellular matrix including connective tissue fibers and ground substance." [GO_REF:0000034, http://dx.plos.org/10.1371/journal.pone.0051070, https://github.com/obophenotype/uberon/issues/23, PSPUB:0000170, VSAO:0000017] subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "Bindegewebe" RELATED [BTO:0000421] synonym: "portion of connective tissue" EXACT [FMA:9640] synonym: "textus connectivus" EXACT [] xref: AAO:0000098 xref: BTO:0000421 xref: CALOHA:TS-2009 xref: EFO:0000952 xref: EMAPA:35251 xref: FMA:9640 xref: GAID:100 xref: galen:ConnectiveTissue xref: MA:0000011 xref: MAT:0000301 xref: MESH:D003238 xref: MIAA:0000301 xref: NCIT:C12374 xref: SCTID:361919005 xref: TAO:0001641 xref: UMLS:C0009780 {source="ncithesaurus:Connective_Tissue"} xref: VSAO:0000017 xref: XAO:0001017 xref: ZFA:0001632 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000468 ! multicellular organism property_value: external_definition "One of the four types of tissue in traditional classifications. It is largely a category of exclusion rather than one with a precise definition, but there are certain characteristics shared by all or most tissues in this category, such as involvement in structure and support, derived from mesoderm, and characterized largely by the traits of non-living tissue.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000098", ontology="AAO", source="AAO:LAP"} property_value: external_definition "Portion of tissue that consists of mesodermally derived cells and intercellular matrix comprised of protein fibers and carbohydrates, which supports, ensheathes and binds together other tissues.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0001641", ontology="TAO", source="TAO:wd"} property_value: external_definition "Tissue with cells that deposit non-polarized extracellular matrix including connective tissue fibers and ground substance.[VSAO]" xsd:string {date_retrieved="2012-08-14", external_class="VSAO:0000017", ontology="VSAO", source="GO_REF:0000034, http://dx.plos.org/10.1371/journal.pone.0051070", source="PSPUB:0000170"} property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/cmungall property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/wdahdul property_value: RO:0002175 NCBITaxon:9606 property_value: UBPROP:0000012 "MA also has set of connective tissues" xsd:string {external_ontology="MA"} [Term] id: UBERON:0002386 name: forelimb zeugopod namespace: uberon def: "The middle limb segment of the pectoral free limb, between the autopod and stylopod segments. Includes as parts the forelimb zeugopodial skeleton, which includes as parts the radius and ulna, or their cartilage precursors, or evolutionary variants." [PHENOSCAPE:curators] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "antebrachial region" EXACT [] synonym: "antebrachium" EXACT [VSAO:0005058, Wikipedia:Forearm] synonym: "antebrachium" RELATED LATIN [Wikipedia:Forearm] synonym: "antibrachium" EXACT [] synonym: "arm middle limb segment" EXACT [OBOL:automatic] synonym: "arm zeugopod" EXACT [OBOL:automatic] synonym: "brachial region middle limb segment" EXACT [OBOL:automatic] synonym: "brachial region zeugopod" EXACT [OBOL:automatic] synonym: "fore epipodium" RELATED [] synonym: "forearm" EXACT [] synonym: "forelimb epipodium" EXACT [] synonym: "forelimb zeugopodium" EXACT [] synonym: "forelimb zygopod" EXACT [] synonym: "intermediate segment of free upper limb" EXACT [] synonym: "lower arm" EXACT HUMAN_PREFERRED [MA:0000034] synonym: "lower segment of arm" EXACT [] synonym: "middle limb segment of arm" EXACT [OBOL:automatic] synonym: "middle limb segment of brachial region" EXACT [OBOL:automatic] synonym: "middle limb segment of forelimb" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "middle limb segment of proximal segment of free upper limb" EXACT [OBOL:automatic] synonym: "regio antebrachialis" EXACT LATIN [FMA:9663, FMA:TA] synonym: "wing zeugopod" NARROW SENSU [NCBITaxon:8782, OBOL:automatic] synonym: "zeugopod of arm" EXACT [] synonym: "zeugopod of brachial region" EXACT [OBOL:automatic] synonym: "zeugopod of forelimb" EXACT [] synonym: "zeugopod of proximal segment of free upper limb" EXACT [OBOL:automatic] xref: BTO:0001447 xref: CALOHA:TS-2205 xref: EFO:0003053 xref: EHDAA2:0000553 xref: EHDAA:4172 xref: EHDAA:6218 xref: EMAPA:17417 xref: FMA:9663 xref: GAID:55 xref: galen:Forearm xref: MA:0000034 xref: MESH:D005542 xref: NCIT:C32628 xref: SCTID:362741001 xref: UMLS:C0016536 {source="ncithesaurus:Forearm"} xref: VHOG:0000341 xref: VSAO:0005058 xref: Wikipedia:Forearm is_a: UBERON:0002471 ! zeugopod intersection_of: UBERON:0002471 ! zeugopod intersection_of: part_of UBERON:0002102 ! forelimb relationship: part_of UBERON:0000026 ! appendage relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0001460 ! arm relationship: part_of UBERON:0002101 ! limb relationship: part_of UBERON:0002102 ! forelimb property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/3/3b/Veins.jpg xsd:anyURI property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/5/50/Forearm_labeled.png xsd:anyURI property_value: external_definition "The middle forelimb region. [Evolution, Fourth_Edition_(2006)_Boston_etc.:_McGraw-Hill, Function, Vertebrates:_Comparative_Anatomy, p.321, see_Kardong_KV][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000341", ontology="VHOG", source="http://bgee.unil.ch/"} property_value: homology_notes "Most anatomists now agree that the three proximal bones of the tetrapod limbs are homologous to the two or three proximal elements of the paired fin skeleton of other sarcopterygians, that is the humerus-femur, radius-tibia, and ulna-fibula.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000341", ontology="VHOG", source="ISBN:978-0198540472 Janvier P, Early vertebrates (1996) p.268", source="http://bgee.unil.ch/"} property_value: UBPROP:0000013 "Naming conventions for pod terms under discussion within phenoscape group. TODO - add distinct term for skeleton and place AAO class here" xsd:string [Term] id: UBERON:0002387 name: pes namespace: uberon def: "Distal portion of the hind limb, including tarsal region, metatarsal region and digits." [Wikipedia:Foot, Wikipedia:Pes_(anatomy)] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "foot" EXACT HUMAN_PREFERRED [MA:0000044] synonym: "hind foot" NARROW [] synonym: "hind limb autopodium" RELATED [VHOG:0000350] synonym: "hind paw" NARROW SENSU [EMAPA:17428, OBOL:automatic] synonym: "hind-paw" NARROW SENSU [EMAPA:17428] synonym: "hindfeet" NARROW PLURAL [] synonym: "hindfoot" NARROW [] synonym: "hindfoot of quadruped" NARROW [] synonym: "hindlimb autopod" EXACT [OBOL:automatic] synonym: "hindlimb autopodium" EXACT [OBOL:automatic] synonym: "hindlimb distal free limb segment" EXACT [OBOL:automatic] synonym: "hindpaw" NARROW SENSU [MA:0000044] synonym: "pes" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "terminal segment of free lower limb" EXACT [] xref: BTO:0000476 xref: CALOHA:TS-0377 xref: EFO:0003065 xref: EHDAA2:0000546 xref: EMAPA:17459 xref: FMA:9664 xref: GAID:40 xref: galen:Foot xref: MA:0000044 xref: MESH:D005528 xref: NCIT:C32622 xref: SCTID:302545001 xref: UMLS:C0016504 {source="ncithesaurus:Foot"} xref: VHOG:0000350 xref: Wikipedia:Pes_(anatomy) is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000026 ! appendage relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0002101 ! limb relationship: part_of UBERON:0002103 ! hindlimb property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/a/ae/Male_Right_Foot_1.jpg xsd:anyURI property_value: has_relational_adjective "pedal" xsd:string [Term] id: UBERON:0002390 name: hematopoietic system namespace: uberon def: "Anatomical system that is involved in the production of hematopoietic cells." [Wikipedia:Haematopoiesis] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "Blutbildungssystem" RELATED [BTO:0000570] synonym: "haematological system" EXACT [] synonym: "haematopoietic system" RELATED [] synonym: "haemopoietic system" EXACT [] synonym: "hematological system" RELATED [] synonym: "hematolymphoid system" RELATED [] synonym: "hemopoietic system" RELATED [] synonym: "organa haemopoietica" EXACT [] xref: AAO:0011002 xref: BTO:0000570 xref: CALOHA:TS-0449 xref: EFO:0000798 xref: EMAPA:35402 xref: EV:0100045 xref: FMA:9667 xref: GAID:1008 xref: MA:0002434 xref: MAT:0000022 xref: MESH:D006413 xref: MIAA:0000022 xref: NCIT:C12909 xref: SCTID:362587009 xref: TAO:0005023 xref: UMLS:C0018957 {source="ncithesaurus:Hematopoietic_System"} xref: VHOG:0001624 xref: Wikipedia:Haematopoiesis xref: XAO:0000122 xref: ZFA:0005023 is_a: UBERON:0000467 ! anatomical system disjoint_from: UBERON:0002405 ! immune system disjoint_from: UBERON:0002416 ! integumental system disjoint_from: UBERON:0002423 ! hepatobiliary system property_value: external_definition "Anatomical system that consists of the blood and blood forming tissues.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0011002", ontology="AAO", source="AAO:EJS"} property_value: has_relational_adjective "hematopoietic" xsd:string property_value: homology_notes "Zebrafish developmental hematopoiesis shows close correspondence to the development of the mammalian hematopoietic system and is regulated by conserved molecular pathways.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001624", ontology="VHOG", source="DOI:10.1016/j.coph.2010.05.004 Ellett F, Lieschke GJ, Zebrafish as a model for vertebrate hematopoiesis. Current Opinion in Pharmacology (2010)", source="http://bgee.unil.ch/"} property_value: taxon_notes "In humans this is primarily the bone marrow, spleen, tonsils, and lymph nodes" xsd:string {source="WP"} [Term] id: UBERON:0002391 name: lymph namespace: uberon def: "Lymph is the fluid that is formed when interstitial fluid enters the conduits of the lymphatic system through lymph capillaries[WP]." [Wikipedia:Lymph] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "lympha" RELATED LATIN [Wikipedia:Lymph] xref: BTO:0000855 xref: CALOHA:TS-0580 xref: EFO:0000871 xref: ENVO:02000041 xref: EV:0100049 xref: FMA:9671 xref: GAID:1186 xref: galen:Lymph xref: MA:0002520 xref: MAT:0000055 xref: MESH:D008196 xref: MIAA:0000055 xref: NCIT:C13252 xref: UMLS:C0024202 {source="ncithesaurus:Lymph"} xref: VHOG:0001590 xref: Wikipedia:Lymph xref: ZFA:0005658 is_a: UBERON:0006314 ! bodily fluid relationship: part_of UBERON:0006558 ! lymphatic part of lymphoid system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/1/19/Illu_lymph_capillary.png xsd:anyURI [Term] id: UBERON:0002394 name: bile duct namespace: uberon def: "Any of the ducts that form the biliary tree, carrying bile from the liver to the small intestine." [http://orcid.org/0000-0002-6601-2165, Wikipedia:Bile_duct] subset: pheno_slim subset: uberon_slim synonym: "bile tube" RELATED [] synonym: "biliary duct" RELATED [FMA:9706] synonym: "gall duct" RELATED [BTO:0000122] synonym: "hepatic duct" RELATED INCONSISTENT [ZFA:0001100] xref: AAO:0011019 xref: BTO:0000122 xref: CALOHA:TS-0075 xref: EHDAA2:0000741 xref: EMAPA:35171 xref: EV:0100091 xref: FMA:9706 xref: GAID:280 xref: MA:0000354 xref: MESH:D001652 xref: NCIT:C12376 xref: SCTID:276157007 xref: TAO:0001100 xref: UMLS:C0005400 {source="ncithesaurus:Bile_Duct"} xref: VHOG:0000212 xref: Wikipedia:Bile_duct xref: XAO:0000134 xref: ZFA:0001100 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0001007 ! digestive system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/5/5d/Digestive_system_showing_bile_duct.png xsd:anyURI property_value: external_definition "A duct that carries bile from the liver to the intestine." xsd:string {source="ZFA:0001100, ZFA:curator"} property_value: external_definition "Any of the excretory ducts in the liver that convey bile between the liver and the intestine. [TFD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000212", ontology="VHOG", source="http://bgee.unil.ch/", source="http://medical-dictionary.thefreedictionary.com/bile+duct"} property_value: homology_notes "(...) the amphibian liver has characteristics in common with both fish and terrestrial vertebrates. (...) The histological structure of the liver is similar to that in other vertebrates, with hepatocytes arranged in clusters and cords separated by a meshwork of sinusoids and the presence of the traditional triad of portal venule, hepatic arteriole, and bile duct.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000212", ontology="VHOG", source="DOI:10.1053/ax.2000.7133 Crawshaw GJ, Weinkle TK, Clinical and pathological aspects of the amphibian liver. Seminars in Avian and Exotic Pet Medicine (2000)", source="http://bgee.unil.ch/"} property_value: UBPROP:0000012 "we place the ZFA class here as this fits its textual definition and child nodes. We may recommend a label change for ZFA" xsd:string {external_ontology="ZFA"} [Term] id: UBERON:0002405 name: immune system namespace: uberon def: "Anatomical system that protects the body from foreign substances, cells, and tissues by producing the immune response and that includes especially the thymus, spleen, lymphoid tissue, lymphocytes including the B cells and T cells, and antibodies." [Wikipedia:Immune_system] subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core xref: AAO:0011003 xref: BILA:0000104 xref: BTO:0005810 xref: FMA:9825 xref: GAID:328 xref: MA:0002711 xref: MESH:D007107 xref: NCIT:C12735 xref: SCTID:362590003 xref: TAO:0001159 xref: UMLS:C0020962 {source="ncithesaurus:Immune_System"} xref: VHOG:0001247 xref: Wikipedia:Immune_system xref: XAO:0003152 xref: ZFA:0001159 is_a: UBERON:0001062 ! anatomical entity disjoint_from: UBERON:0002416 ! integumental system disjoint_from: UBERON:0002423 ! hepatobiliary system property_value: homology_notes "The antibody-based immune system defined by the presence of the major histocompatibility complex (MHC), T cell receptor (TCR), B cell receptor (BCR) or recombination activating genes (RAGs) is known beginning from jawed fishes.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001247", ontology="VHOG", source="PMID:21046016 Dzik JM, The ancestry and cumulative evolution of immune reactions. Acta biochimica Polonica (2010)", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0002407 name: pericardium namespace: uberon def: "The combination of pericardial sac (a double-walled sac containing the heart and the roots of the great vessels) plus fibrous pericardium." [http://orcid.org/0000-0002-6601-2165, Wikipedia:Pericardium] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core xref: AAO:0010817 xref: BSA:0000090 xref: BTO:0000717 xref: CALOHA:TS-0761 xref: EFO:0000820 xref: EHDAA:5376 xref: EMAPA:16133 xref: EV:0100023 xref: FMA:9869 xref: GAID:569 xref: galen:Pericardium xref: MA:0000099 xref: MAT:0000454 xref: MESH:D010496 xref: NCIT:C13005 xref: RETIRED_EHDAA2:0001443 xref: SCTID:181295003 xref: TAO:0000054 xref: UMLS:C0031050 {source="ncithesaurus:Pericardium"} xref: VHOG:0001280 xref: Wikipedia:Pericardium xref: XAO:0004182 xref: ZFA:0000054 is_a: UBERON:0000061 ! anatomical structure property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/7/7e/Gray489.png xsd:anyURI property_value: external_definition "Peritoneum that surrounds the heart.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010817", ontology="AAO", source="AAO:JMG"} property_value: has_relational_adjective "pericardial" xsd:string property_value: UBPROP:0000012 "In GO the concept of pericardium is developmental implicitly epithelial, but here it represents a multi-tissue structure encompassing the sac (epithelium plus connective) and cavity" xsd:string {external_ontology="FMA"} property_value: UBPROP:0000012 "this class denotes a combination of fibrous PC + PC sac (itself a combination of cavity, epithelium and connective tissue). Many sources use the term 'pericardium' to denote either just the serous membrane (ZFA) or the epithelium (GO)" xsd:string {external_ontology="ZFA"} property_value: UBPROP:0000012 "we follow FMA in dividing pericardium into pericardial sac and fibrous pericardium" xsd:string {external_ontology="FMA"} [Term] id: UBERON:0002412 name: vertebra namespace: uberon def: "The ossified form of a vertebral element, a skeletal element that forms around the notochord and is part of the vertebral column." [GO_REF:0000034, http://dx.plos.org/10.1371/journal.pone.0051070, http://orcid.org/0000-0002-6601-2165, VSAO:0000184] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "vertebra bone" EXACT [] synonym: "vertebrae" EXACT PLURAL [PHENOSCAPE:ad] xref: AAO:0000691 xref: CALOHA:TS-2352 xref: EFO:0001371 xref: EMAPA:32740 xref: FMA:9914 xref: galen:Vertebra xref: MA:0000309 xref: NCIT:C12933 xref: SCTID:181817002 xref: TAO:0001189 xref: UMLS:C0549207 {source="ncithesaurus:Vertebra"} xref: Wikipedia:Vertebra xref: XAO:0004019 xref: ZFA:0001189 is_a: UBERON:0001474 ! bone element relationship: never_in_taxon NCBITaxon:7901 {source="Wikipedia"} relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001434 ! skeletal system property_value: external_definition "Endochondral bone that forms around the notochord and is part of the vertebral column.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0001189", ontology="TAO", source="ZFIN:curator"} property_value: external_definition "Main component of the vertebral column. It consists of two essential parts, a dorsal neural arch and a ventral centrum.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000691", ontology="AAO", source="AAO:Pugener_and_Maglia_2008"} property_value: IAO:0000116 "Consider changing name to make distinction from inferred superclass 'vertebral element' clear" xsd:string property_value: IAO:0000116 "we follow FMA in making this an irregular bone - however vertebra have 'epiphyses' which are currently classified as belonging to long bones" xsd:string [Term] id: UBERON:0002415 name: tail namespace: uberon def: "An external caudal extension of the body. In chordates, the tail is post-anal, in other animals the anus ends in the tail." [AEO:0000109, Wikipedia:Tail] subset: efo_slim subset: grouping_class subset: pheno_slim subset: uberon_slim synonym: "caudal subdivision" EXACT [https://orcid.org/0000-0002-6601-2165] xref: AEO:0000109 xref: BILA:0000117 xref: BTO:0001348 xref: EFO:0000963 xref: EHDAA:9198 xref: GAID:1245 xref: MAT:0000094 xref: MESH:D013623 xref: MIAA:0000094 xref: WBbt:0005741 xref: Wikipedia:Tail is_a: UBERON:0000061 ! anatomical structure relationship: never_in_taxon NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000468 ! multicellular organism property_value: IAO:0000116 "Note we also have a subclass post-anal tail, for the chordate specific structure. currently defined very generally, inclusive of caudal fin" xsd:string [Term] id: UBERON:0002416 name: integumental system namespace: uberon alt_id: UBERON:0007029 def: "Connected anatomical system that forms a barrier between an animal and its environment. In vertebrates, the integumental system consists of the epidermis, dermis plus associated glands and adnexa such as hair and scales. In invertebrates, the integumental system may include cuticle." [CARO:0002001, http://orcid.org/0000-0002-6601-2165, https://github.com/obophenotype/uberon/issues/29] subset: efo_slim subset: grouping_class subset: pheno_slim synonym: "body surface" RELATED [] synonym: "dermal system" RELATED [MIAA:0000033] synonym: "external covering of organism" RELATED [] synonym: "integumentary system" EXACT [FMA:72979] synonym: "integumentum commune" RELATED LATIN [Wikipedia:Integumentary_system] synonym: "organism surface" RELATED [EHDAA2:0003154] synonym: "surface" RELATED [BILA:0000118] xref: AEO:0000154 xref: BILA:0000118 xref: CALOHA:TS-1299 xref: CARO:0002001 xref: EFO:0000807 xref: EHDAA2:0000836 xref: EHDAA2_RETIRED:0003154 xref: EHDAA:6520 xref: EMAPA:17524 xref: EV:0100151 xref: FBbt:00004969 xref: FMA:72979 xref: galen:Surface xref: HAO:0000421 xref: MA:0000014 xref: MAT:0000033 xref: MESH:D034582 xref: MIAA:0000033 xref: NCIT:C12907 xref: SCTID:361692004 xref: TADS:0000108 xref: UMLS:C0037267 {source="ncithesaurus:Integumentary_System"} xref: VHOG:0000403 xref: Wikipedia:Integumentary_system xref: XAO:0000176 is_a: UBERON:0000467 ! anatomical system disjoint_from: UBERON:0002423 ! hepatobiliary system property_value: homology_notes "(...) the integument of many tetrapods is reinforced by a morphologically and structurally diverse assemblage of skeletal elements. These elements are widely understood to be derivatives of the once all-encompassing dermal skeleton of stem-gnathostomes (...).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000403", ontology="VHOG", source="DOI:10.1111/j.1469-7580.2008.01043.x Vickaryous MK, Sire JY, The integumentary skeleton of tetrapods: origin, evolution, and development. J Anat (2009)", source="http://bgee.unil.ch/"} property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/cmungall property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/tfhayamizu [Term] id: UBERON:0002420 name: basal ganglion namespace: uberon def: "An individual member of a collection of basal ganglia. Basal ganglia are subcortical masses of gray matter in the forebrain and midbrain that are richly interconnected and so viewed as a functional system. The nuclei usually included are the caudate nucleus (caudoputamen in rodents), putamen, globus pallidus, substantia nigra (pars compacta and pars reticulata) and the subthalamic nucleus. Some also include the nucleus accumbens and ventral pallidum[NIF,modified]." [BIRNLEX:826] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "basal ganglia" RELATED PLURAL [] synonym: "basal ganglion of telencephalon" EXACT [] synonym: "basal nucleus" RELATED [MA:0000184] synonym: "nuclei basales" RELATED LATIN [Wikipedia:Basal_ganglia] xref: BTO:0000235 xref: CALOHA:TS-1149 xref: DHBA:10332 xref: EFO:0000904 xref: FMA:62514 xref: SCTID:244434001 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001017 ! central nervous system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/1/1b/Basal_Ganglia_and_Related_Structures.svg xsd:anyURI property_value: IAO:0000116 "it is necessary to introduce two classes, one representing an individual basal ganglion, another representing the aggregate structure, in order to have consistent classification amongst AOs (e.g. in MA the aygdala is part of the BG, in FMA and BTO it is a subclass). Apart from achieving this consistency, the value of having two distinct classes is questionable, since the BG-plural is trivially the set of all BGs-singular. it would be better for all AOs to decide on one single way of doing this. Do not merge until this is done." xsd:string [Term] id: UBERON:0002421 name: hippocampal formation namespace: uberon def: "Hippocampus (proper) plus dentate gyrus and subiculum[definition derived from NIF comments and ontology alignment]." [https://orcid.org/0000-0002-6601-2165] subset: pheno_slim subset: uberon_slim synonym: "archipallium" RELATED [MA:0000189] synonym: "formatio hippocampi" RELATED LATIN [NeuroNames:177] synonym: "hippocampus" NARROW INCONSISTENT [BTO:0000601, GO:0021766] synonym: "hippocampus (Crosby)" EXACT [] synonym: "major hippocampus" RELATED [BTO:0000601] synonym: "primal cortex" RELATED [MA:0000189] synonym: "seahorse" RELATED [NeuroNames:177] xref: BAMS:Hi xref: BAMS:HiF xref: BAMS:HPF xref: BIRNLEX:715 xref: BM:Tel-HF xref: BTO:0000601 xref: DHBA:10294 xref: EMAPA:35405 xref: FMA:74038 xref: HBA:4249 xref: MA:0000189 xref: MBA:1089 xref: neuronames:177 {source="BIRNLEX:715"} xref: PBA:4003 xref: SCTID:422867004 xref: UMLS:C0175202 {source="BIRNLEX:715"} xref: Wikipedia:Hippocampal_formation is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000203 ! pallium relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0000956 ! cerebral cortex relationship: part_of UBERON:0001016 ! nervous system property_value: IAO:0000232 "The term hippocampus is often used synonymously with hippocampal formation which consists of the hippocampus proper or Cornu Ammonis, the dentate gyrus and the subiculum" xsd:string {source="NIF"} property_value: RO:0002171 UBERON:0002264 {source="ABA"} property_value: UBPROP:0000012 "BTO:0000601 is placed here since it includes the DG. GO also includes dentate gyrus development as part of hippocampus development, so we assume when GO says 'hippocampus' it means 'hippocampal formation'. In ABA HPF = (.. subiculum) + HIP, HIP = DG + AH." xsd:string {external_ontology="BTO"} [Term] id: UBERON:0002423 name: hepatobiliary system namespace: uberon def: "The part of the digestive system that contains the liver and the biliary system." [http://orcid.org/0000-0002-6601-2165] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "hepaticobiliary system" EXACT [GO:0061008] synonym: "liver and biliary system" EXACT [] synonym: "liver/biliary system" RELATED [] xref: AAO:0011056 xref: CALOHA:TS-1308 xref: EFO:0000800 xref: EHDAA2:0000998 xref: EHDAA:2189 xref: EMAPA:16840 xref: EV:0100088 xref: MA:0000324 xref: MAT:0000024 xref: MIAA:0000024 xref: NCIT:C43612 xref: TAO:0000036 xref: UMLS:C1711359 {source="ncithesaurus:Hepatobiliary_System"} xref: VHOG:0000294 xref: Wikipedia:Hepatobiliary_system xref: XAO:0000132 xref: ZFA:0000036 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001007 ! digestive system property_value: external_definition "System responsible for the production and movement of bile[ZFIN:curator]." xsd:string {source="ZFIN:curator"} property_value: UBPROP:0000009 "The hepaticobiliary system is responsible for metabolic and catabolic processing of small molecules absorbed from the blood or gut, hormones and serum proteins, detoxification, storage of glycogen, triglycerides, metals and lipid soluble vitamins and excretion of bile. Included are the synthesis of albumin, blood coagulation factors, complement, and specific binding proteins. The parts are: liver, bile duct, gall bladder and hepatic duct [GO:0061008]" xsd:string [Term] id: UBERON:0002428 name: limb bone namespace: uberon def: "A bone that is part of a limb [Automatically generated definition]." [OBOL:automatic] subset: efo_slim subset: pheno_slim synonym: "bone of extremity" EXACT [] synonym: "bone of limb" EXACT [OBOL:automatic] synonym: "free limb bone" EXACT [https://orcid.org/0000-0002-6601-2165, UBERONREF:0000003] xref: EFO:0000945 xref: MAT:0000151 xref: MIAA:0000151 xref: NCIT:C32223 xref: SCTID:304149004 xref: UMLS:C0582791 {source="ncithesaurus:Bone_of_the_Extremity"} is_a: UBERON:0001474 ! bone element intersection_of: UBERON:0001474 ! bone element intersection_of: part_of UBERON:0002101 ! limb relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001434 ! skeletal system relationship: part_of UBERON:0002091 ! appendicular skeleton relationship: part_of UBERON:0002101 ! limb property_value: IAO:0000232 "the formal definition is very inclusive, and includes sesamoids" xsd:string property_value: UBPROP:0000012 "NCITA includes clavicle. MA:'limb bone' is actually a bone of limb or girdle" xsd:string {external_ontology="NCIT"} [Term] id: UBERON:0002451 name: endometrial gland namespace: uberon def: "The mucous secreting gland associated with the mucuous membrane lining the uterus." [Wikipedia:Uterine_glands] subset: human_reference_atlas subset: organ_slim subset: pheno_slim subset: uberon_slim synonym: "endometrial gland" EXACT [BTO:0003433] synonym: "endometrial mucuous gland" EXACT [] synonym: "endometrium gland" EXACT [] synonym: "glandulae uterinae" EXACT LATIN [FMA:71647, FMA:TA] synonym: "glandulae uterinae" RELATED LATIN [Wikipedia:Uterine_glands] synonym: "uterine gland" EXACT [] xref: BTO:0003433 xref: BTO:0004518 xref: EMAPA:29919 xref: MA:0001726 xref: NCIT:C33842 xref: SCTID:361377009 xref: UMLS:C1183035 {source="ncithesaurus:Uterine_Gland"} xref: Wikipedia:Uterine_glands is_a: UBERON:0002530 ! gland intersection_of: UBERON:0002530 ! gland intersection_of: part_of UBERON:0001295 ! endometrium relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0000474 ! female reproductive system relationship: part_of UBERON:0000990 ! reproductive system relationship: part_of UBERON:0001295 ! endometrium relationship: part_of UBERON:0002100 ! trunk relationship: part_of UBERON:0002355 ! pelvic region of trunk relationship: UBPROP:0000202 FMA:71647 ! fma_set_term property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/2/28/Gray1169.png xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 property_value: UBPROP:0000010 "simple or branched tubular" xsd:string [Term] id: UBERON:0002465 name: lymphoid system namespace: uberon alt_id: UBERON:0002096 def: "The lymphatic system in vertebrates is a network of conduits that carry a clear fluid called lymph. It also includes the lymphoid tissue through which the lymph travels. Lymphoid tissue is found in many organs, particularly the lymph nodes, and in the lymphoid follicles associated with the digestive system such as the tonsils. The system also includes all the structures dedicated to the circulation and production of lymphocytes, which includes the spleen, thymus, bone marrow and the lymphoid tissue associated with the digestive system[WP]." [Wikipedia:Lymphoid_system] subset: uberon_slim subset: vertebrate_core synonym: "lymphatic circulatory system" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "lymphatic drainage system" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "lymphatic system" NARROW [ZFA:0000385] synonym: "systema lymphoideum" RELATED LATIN [Wikipedia:Lymphoid_system] xref: EHDAA2:0001043 xref: EHDAA:8677 xref: EMAPA:37664 {source="MA:th"} xref: FMA:74594 xref: GAID:931 xref: MA:0002435 xref: MAT:0000197 xref: MIAA:0000197 xref: NCIT:C12746 xref: SCTID:362589007 xref: TAO:0000385 xref: UMLS:C0024235 {source="ncithesaurus:Lymphatic_System"} xref: VHOG:0000842 xref: Wikipedia:Lymphoid_system xref: XAO:0003199 xref: ZFA:0000385 is_a: UBERON:0000467 ! anatomical system relationship: part_of UBERON:0002405 ! immune system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/b/b3/TE-Lymphatic_system_diagram.svg xsd:anyURI property_value: external_definition "Part of the circulatory system which consists of a series of vessels which collect blood (exclusive of erythrocytes) which seep through capillary walls and return it to the veins.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010522", ontology="AAO", source="AAO:BJB"} property_value: has_relational_adjective "lymphoid" xsd:string property_value: homology_notes "Tetrapods have evolved distinct lymphatic systems, in which lymphatic capillaries help drain most of the tissues of the body.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000842", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.627", source="http://bgee.unil.ch/"} property_value: taxon_notes "The lymphatic system of anuran amphibians is characterized by large lymphatic sacs and two pairs of lymph hearts that return lymph into the venous circulation but no lymph vessels per se [10.1152/japplphysiol.00201.2013]" xsd:string property_value: taxon_notes "The lymphatic systems of reptiles and some birds have lymph hearts, and both groups have extensive lymph vessels, but their functional role in both lymph movement and plasma volume homeostasis is almost completely unknown [10.1152/japplphysiol.00201.2013]" xsd:string property_value: UBPROP:0000012 "We follow FMA and MA in distinguishing between lymphatic system and lymphoid system, with lymhoid tissue part of the non-lymphatic component, although these terms are often used interchangeably. We assume the ZFA term lymphatic tissue actually corresponds to the broader class (e.g. ZFA lymph node in the ZFA lymphatic system). See tracker for more comments." xsd:string {source="https://github.com/obophenotype/mouse-anatomy-ontology/issues/51"} [Term] id: UBERON:0002469 name: esophagus mucosa namespace: uberon alt_id: UBERON:0003345 def: "A mucosa that is part of a esophagus [Automatically generated definition]." [OBOL:automatic] synonym: "esophageal mucosa" EXACT [] synonym: "esophageal mucous membrane" EXACT [] synonym: "esophagus mucosa" EXACT [FMA:62996] synonym: "esophagus mucous membrane" EXACT [OBOL:automatic] synonym: "lamina muscularis mucosae oesophageae" EXACT LATIN [FMA:62996, FMA:TA] synonym: "mucosa of esophagus" EXACT [OBOL:automatic] synonym: "mucosa of oesophagus" EXACT [OBOL:automatic] synonym: "mucous membrane of esophagus" EXACT [] synonym: "mucous membrane of oesophagus" EXACT [FMA:62996] synonym: "muscularis mucosae of oesophagus" RELATED INCONSISTENT [FMA:62996] synonym: "oesophageal mucosa" EXACT [FMA:62996] synonym: "oesophagus mucosa" EXACT [] synonym: "oesophagus mucous membrane" EXACT [OBOL:automatic] synonym: "tunica mucosa esophagi" EXACT [] synonym: "tunica mucosa oesophageae" EXACT LATIN [FMA:62996, FMA:TA] synonym: "tunica mucosa oesophagi" EXACT [] synonym: "tunica mucosa oesophagi" RELATED [BTO:0002859] xref: BTO:0002859 xref: EMAPA:26981 xref: FMA:62996 xref: MA:0002680 xref: MESH:D000071041 xref: NCIT:C32538 xref: SCTID:362127004 xref: UMLS:C0227176 {source="ncithesaurus:Esophageal_Mucosa"} is_a: UBERON:0000344 ! mucosa intersection_of: UBERON:0000344 ! mucosa intersection_of: part_of UBERON:0001043 ! esophagus relationship: part_of UBERON:0001043 ! esophagus [Term] id: UBERON:0002471 name: zeugopod namespace: uberon def: "The middle free limb segment, between the autopod and stylopod segments. Includes as parts the zeugopodial skeleton. Examples: There are two types of zeugopod: forelimb zeugopod (aka forearm), hindlimb zeugopod (aka crus)." [https://github.com/obophenotype/uberon/issues/101, PHENOSCAPE:curators] comment: There exists some controversy about which podial segments are present in some fishes, e.g. if the autopod is not newly evolved in tetrapods, there is a question as to which segments are actually present in basal vertebrate taxa.[PHENOSCAPE:curators] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "epipodium" EXACT [MA:th] synonym: "middle free limb segment" EXACT [FMA:83016] synonym: "middle limb segment" EXACT [] synonym: "middle part of limb" BROAD [] synonym: "middle segment of free limb" RELATED [FMA:83016] synonym: "zeugopod limb segment" EXACT [MA:th] synonym: "zeugopodial limb segment" EXACT [MA:th] synonym: "zeugopodium" EXACT [] synonym: "zygopod" EXACT [] synonym: "zygopodium" EXACT [] xref: EFO:0000878 xref: FMA:83016 xref: MA:0002716 xref: MAT:0000092 xref: MIAA:0000092 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000026 ! appendage relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0002101 ! limb property_value: has_relational_adjective "zeugopodial" xsd:string property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/alex-dececchi property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/cmungall property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/mellybelly [Term] id: UBERON:0002472 name: stylopod namespace: uberon def: "The proximal free limb segment. Includes as parts the stylopod skeleton." [http://orcid.org/0000-0002-6601-2165] subset: efo_slim subset: uberon_slim synonym: "propodium" EXACT [MA:th] synonym: "proximal free limb segment" EXACT [FMA:83014] synonym: "proximal part of limb" BROAD [] synonym: "proximal segment of free limb" RELATED [FMA:83014] synonym: "stylopodial limb segment" EXACT [MA:th] synonym: "stylopodium" EXACT [] xref: EFO:0000879 xref: FMA:83014 xref: MA:0002717 xref: MAT:0000093 xref: MIAA:0000093 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000026 ! appendage relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0002101 ! limb property_value: has_relational_adjective "stylopodial" xsd:string property_value: RO:0002171 UBERON:0002470 property_value: RO:0002171 UBERON:0002471 property_value: UBPROP:0000013 "Naming conventions for pod terms under discussion within phenoscape group" xsd:string [Term] id: UBERON:0002509 name: mesenteric lymph node namespace: uberon def: "The lymph nodes located in the mesentery, of which there are 3 classes: ileocolic, juxtaintestinal mesenteric, and central superior group." [MP:0005232] subset: human_reference_atlas subset: pheno_slim synonym: "mesenteric node" EXACT [] synonym: "nodi lymphoidei mesenterici" RELATED LATIN [BTO:0000767] xref: BTO:0000767 xref: EMAPA:35561 xref: FMA:12795 xref: MA:0002829 xref: NCIT:C77641 xref: UMLS:C0229792 {source="ncithesaurus:Mesenteric_Lymph_Node"} xref: Wikipedia:Mesenteric_lymph_nodes is_a: UBERON:0000029 ! lymph node relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0000916 ! abdomen relationship: part_of UBERON:0002100 ! trunk property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0002518 name: otolith organ namespace: uberon def: "The crystalline particles composed of calcium carbonate and a protein which adhere to the gelatinous membrane of the maculae of the utricle and saccule (otolithic membrane)." [ISBN:0-683-40008-8, MGI:llw2, MP:0002894] subset: efo_slim subset: organ_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "otolith organs" RELATED [ZFA:0000559] synonym: "saccule and utricle" RELATED [MESH:A09.246.631.909.625] synonym: "utricle and saccule" RELATED [MESH:A09.246.631.909.625] xref: EFO:0003539 xref: GAID:883 xref: MA:0002841 xref: MESH:D012444 xref: TAO:0000559 xref: VHOG:0001676 xref: Wikipedia:Otolith_organ xref: ZFA:0000559 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000467 ! anatomical system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/c/cb/Bigotolith.jpg xsd:anyURI property_value: homology_notes "In fishes, as in other vertebrates, the vestibular end-organs are divided into a gravity receptor system, with three subdivisions and an angular acceleration receptor system. The gravity receptor system on each side consists of utricular, saccular, and lagenar maculae, each covered by an otolith (reference 1); (...)considerations have led to our rethinking issues related to the origin of several aspects of vertebrate hearing, and to the view that many basic auditory functions evolved very early in vertebrate history, and that the functions observed in more `advanced' vertebrates, such as birds and mammals, are frequently modifications of themes first encountered in fishes, and perhaps even more ancestral animals (reference 2).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001676", ontology="VHOG", source="PMID:11581521 Moorman SJ, Development of sensory systems in zebrafish (Danio rerio). ILAR Journal (2001), DOI:10.1016/S0378-5955(00)00168-4 Fay RR, Popper AN, Evolution of hearing in vertebrates: the inner ears and processing. Hearing research (2000)", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "Representation of utricle, sacule and otoliths in correspondence to other ontologies may require review. In EHDAA2, saccule and utricle are epithelia" xsd:string [Term] id: UBERON:0002524 name: mediastinal lymph node namespace: uberon def: "A lymph node that is part of a mediastinum. Each consists of several lymph node groups, especially along the trachea (5 groups), along the esophagus and between the lung and the diaphragm. In the mediastinal lymph nodes arises lymphatic ducts, which draines the lymph to the left subclavian vein (to the venous angle in the confluence of the subclavian and deep jugular veins). The mediastinal lymph nodes along the esophagus are in tight connection with the abdominal lymph nodes along the esophagus and the stomach. That fact facilitates spreading of tumors cells through these lymphatics in cases of cancers of the stomach and particularly of the esophagus. Through the mediastinum, the main lymphatic drainage from the abdominal organs goes via the thoracic duct (ductus thoracicus), which drains majority of the lymph from the abdomen to the above mentioned left venous angle." [OBOL:automatic, Wikipedia:Lymph_node#Lymph_nodes_of_the_thorax] subset: efo_slim synonym: "mediastinal node" EXACT [] xref: EFO:0001670 xref: EMAPA:35555 xref: FMA:12774 xref: MA:0002877 xref: NCIT:C33073 xref: SCTID:181760002 xref: UMLS:C0588055 {source="ncithesaurus:Mediastinal_Lymph_Node"} xref: Wikipedia:Lymph_node#Lymph_nodes_of_the_thorax is_a: UBERON:0000029 ! lymph node relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0000915 ! thoracic segment of trunk relationship: part_of UBERON:0002100 ! trunk [Term] id: UBERON:0002530 name: gland namespace: uberon def: "An organ that functions as a secretory or excretory organ." [MGI:csmith, MP:0002163] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "Druese" RELATED [BTO:0000522] synonym: "glandula" RELATED LATIN [BTO:0000522, Wikipedia:Gland] synonym: "glandular organ" EXACT [http://orcid.org/0000-0002-6601-2165] xref: AAO:0000212 xref: AEO:0000096 xref: BTO:0000522 xref: EFO:0000797 xref: EHDAA2:0003096 xref: EHDAA:2161 xref: EHDAA:4475 xref: EHDAA:6522 xref: EMAPA:18425 xref: FBbt:00100317 xref: FMA:7146 xref: FMA:86294 xref: galen:Gland xref: HAO:0000375 xref: MA:0003038 xref: MAT:0000021 xref: MIAA:0000021 xref: NCIT:C13319 xref: SCTID:134358001 xref: UMLS:C1285092 {source="ncithesaurus:Gland"} xref: Wikipedia:Gland xref: WikipediaCategory:Glands is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000467 ! anatomical system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/a/a1/Gray1026.png xsd:anyURI property_value: has_relational_adjective "glandular" xsd:string property_value: RO:0002171 UBERON:0001434 [Term] id: UBERON:0002531 name: paired fin bud namespace: uberon def: "An outgrowth on the lateral trunk of the embryo that develops into a paired fin. The fin bud is divided into ectoderm and mesenchyme[cjm, modified from MP]." [https://orcid.org/0000-0002-6601-2165, ISBN:9780878932504, MP:0005650] subset: efo_slim synonym: "fin bud" EXACT [ZFA:0001383] synonym: "fin buds" EXACT PLURAL [VSAO:0000179] xref: EFO:0003468 xref: MAT:0000062 xref: MIAA:0000062 xref: TAO:0001383 xref: VSAO:0000179 xref: ZFA:0001383 is_a: EFO:0003332 ! zebrafish embryonic structure is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo property_value: external_definition "Embryonic surface structure that develops into a paired fin.[ZFA]" xsd:string {date_retrieved="2012-08-31", external_class="ZFA:0001383", ontology="ZFA", source="ZFIN:curator"} [Term] id: UBERON:0002533 name: post-anal tail bud namespace: uberon def: "The rapidly proliferating mass of cells at the caudal extremity of the embryo; remnant of the primitive node." [BTO:0001445] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "end bud" RELATED [BTO:0001445] synonym: "tail bud" EXACT [ZFA:0000077] synonym: "tail bud mesenchyme" RELATED [ZFA:0000077] synonym: "tailbud" EXACT [] xref: AAO:0011104 xref: BTO:0001445 xref: EFO:0002748 xref: EHDAA2:0001976 xref: EHDAA:1595 xref: EMAPA:16580 xref: MAT:0000070 xref: MIAA:0000070 xref: TAO:0000077 xref: VHOG:0000201 xref: XAO:0000107 xref: ZFA:0000077 is_a: UBERON:0000061 ! anatomical structure is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo property_value: external_definition "Rapidly proliferating mass of cells at the caudal extremity of the embryo. Its formation is reflected in a caudal carving of the posterior portion of the archenteric canal at NF stage 22. With its further outgrowth, the postanal gut primordium becomes stretched. Its lumen is in broad communication with the hindgut at NF stage 25.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0011104", ontology="AAO", source="ISBN:0815318960", source="OMD:tail+bud"} property_value: homology_notes "(...) at some stage of its development, every chordate exhibits five uniquely derived characters or synapomorphies of the group: (...) (5) a larva or embryo with a postanal tail.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000201", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.28", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "See notes from https://github.com/obophenotype/uberon/wiki/The-neural-crest" xsd:string [Term] id: UBERON:0002536 name: arthropod sensillum namespace: uberon def: "Sense organ embedded in the integument and consisting of one or a cluster of sensory neurons and associated sensory structures, support cells and glial cells forming a single organised unit with a largely bona-fide boundary.[FBbt]." [FBbt:00007152, Wikipedia:Sensillum] subset: efo_slim subset: uberon_slim synonym: "sensillum" EXACT [FBbt:00007152, HAO:0000933] xref: BTO:0001237 xref: EFO:0000939 xref: FBbt:00007152 xref: HAO:0000933 xref: MAT:0000163 xref: MIAA:0000163 xref: TGMA:0000540 xref: Wikipedia:Sensillum is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0001032 ! sensory system property_value: IAO:0000116 "this term should be ceded to the arthropod anatomy ontology" xsd:string [Term] id: UBERON:0002537 name: hermaphrodite gonad namespace: uberon def: "A gonad with both testicular and ovarian aspects[WP]." [Wikipedia:Ovotestis] subset: efo_slim synonym: "glandula hermaphroditica" NARROW SENSU [Wikipedia:Ovotestis#In_gastropods] synonym: "hermaphrodite genitalia" EXACT [GO:0040035] synonym: "hermaphrodite gland" NARROW SENSU [Wikipedia:Ovotestis#In_gastropods] synonym: "ovotestis" RELATED [BTO:0000981] xref: BTO:0000981 xref: EFO:0000971 xref: MAT:0000165 xref: MIAA:0000165 xref: WBbt:0005178 xref: Wikipedia:Ovotestis is_a: UBERON:0000991 ! gonad [Term] id: UBERON:0002538 name: hatching gland namespace: uberon def: "The cells of the hatching gland contain enzymes responsible for solubilization of the egg chorion, facilitating the hatching process[GO]. A transversely oriented set of cells located deep to the EVL on the pericardial membrane, especially prominent during pharyngula period because of the brightly refractile cytoplasmic granules (containing hatching enzymes) of the principal cells of the gland." [ZFIN:curator] subset: efo_slim subset: uberon_slim synonym: "frontal gland" RELATED [] synonym: "hgg" RELATED [] xref: AAO:0011050 xref: BTO:0000558 xref: EFO:0000863 xref: MAT:0000180 xref: MIAA:0000180 xref: TAO:0000026 xref: VHOG:0000078 xref: XAO:0000034 xref: ZFA:0000026 is_a: UBERON:0002530 ! gland relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0000924 ! ectoderm property_value: external_definition "A transversely oriented set of cells located deep to the EVL on the pericardial membrane, especially prominent during pharyngula period because of the brightly refractile cytoplasmic granules (containing hatching enzymes) of the principal cells of the gland. Kimmel et al, 1995.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000026", ontology="TAO", source="ZFIN:curator"} [Term] id: UBERON:0002539 name: pharyngeal arch namespace: uberon def: "One of a series of paired bulges that develop along the lateral walls of the foregut. The pharyngeal arches have developmental contributions from endoderm, mesoderm, and neural crest cells and are separated by anterior lateral endoderm out-pockets known as pharyngeal pouches." [http://orcid.org/0000-0002-6601-2165, PMID:16313389, ZFA:yb] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "arcus pharyngei" RELATED LATIN [Wikipedia:Pharyngeal_arch] synonym: "branchial arch" NARROW [BTO:0001785, MP:0002884] synonym: "pharyngeal arches" EXACT PLURAL [] synonym: "visceral arch" RELATED [] xref: AAO:0010359 xref: BTO:0001785 xref: EFO:0000959 xref: EHDAA:571 xref: EMAPA:16117 xref: FMA:293015 xref: GAID:1292 xref: MAT:0000242 xref: MESH:D001934 xref: MIAA:0000242 xref: NCIT:C34249 xref: SCTID:308766004 xref: TAO:0001306 xref: UMLS:C0080322 {source="ncithesaurus:Pharyngeal_Arch"} xref: VHOG:0000155 xref: Wikipedia:Pharyngeal_arch xref: XAO:0000096 xref: ZFA:0001306 is_a: UBERON:0000061 ! anatomical structure property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/8/8b/Gray41.png xsd:anyURI property_value: external_definition "One of a series of bony or cartilaginous arches that develop in the walls of the mouth cavity and pharynx of the embryo.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010359", ontology="AAO", source="NLM:branchial+arch"} property_value: homology_notes "A conserved feature of all vertebrate embryos is the presence of a series of bulges on the lateral surface of the head, the pharyngeal arches; it is within these structures that the nerves, muscles and skeletal components of the pharyngeal apparatus are laid down.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000155", ontology="VHOG", source="DOI:10.1111/j.1469-7580.2005.00472.x Graham A, Okabe M and Quinlan R, The role of the endoderm in the development and evolution of the pharyngeal arches. J Anat (2005)", source="http://bgee.unil.ch/"} property_value: UBPROP:0000013 "Numbered cranial to caudal. different in mammals. branchial arch = ZFA:0001613 pharyngeal arch 3-7. generally gill arch 1 = pharyngeal arch 3. terminology varies as to whether branchial arch follows gill or pharyngeal numbering" xsd:string [Term] id: UBERON:0002540 name: lateral line system namespace: uberon def: "A line of sensory organs and associated structures along the sides of fish and amphibia that detect vibrations and pressure changes." [http://orcid.org/0000-0002-6601-2165, ISBN:0471209627, ISBN:0815318960, Wikipedia:Lateral_line_system] subset: efo_slim subset: uberon_slim synonym: "lateral line organs" RELATED [VHOG:0001243] synonym: "lateral line stitches" RELATED [] synonym: "lateral-line organs" RELATED [] synonym: "ll" RELATED [] xref: AAO:0000269 xref: AAO:0000975 xref: EFO:0000941 xref: MAT:0000249 xref: MESH:D053403 xref: MIAA:0000249 xref: TAO:0000034 xref: VHOG:0001243 xref: Wikipedia:Lateral_line_system xref: XAO:0000095 xref: ZFA:0000034 is_a: UBERON:0001032 ! sensory system relationship: never_in_taxon NCBITaxon:32524 {source="http://tolweb.org/Amniota"} property_value: axiom_lost_from_external_ontology "relationship loss: is_formed_by lateral line receptor organ (AAO:0001001)[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000975", ontology="AAO"} property_value: external_definition "A sensory system on the surface of the fish, consisting of small sensory patches (neuromasts) distributed in discrete lines over the body surface. The lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance. (See Anatomical Atlas entry for lateral line by T. Whitfield.)[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000034", ontology="TAO", source="ZFIN:curator"} property_value: external_definition "Sensory system which develops from a specialized series of dorsolateral ectodermal placodes named lateral line placodes.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000975", ontology="AAO", source="AAO:EJS"} property_value: homology_notes "The mechanosensory lateral line system is widely distributed in aquatic anamniotes. It was apparently present in the earliest vertebrates, as it has been identified in agnathans, cartilaginous fishes, bony fishes, lungfishes, the crossopterygian Latimeria, and aquatic amphibians.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001243", ontology="VHOG", source="ISBN:978-0471210054 Butler AB and Hodos W, Comparative vertebrate neuroanatomy: Evolution and Adaptation (2005) p.195", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "we model this as being potentially inclusive of lateral line scales, and thus overlapping with the skeletal system. This is to accomodate TAO" xsd:string [Term] id: UBERON:0002541 name: germ ring namespace: uberon def: "The thickend rim of the blastoderm evident during late blastula and gastrula stages[FishBase]. Embryonic structure which is a uniform thickened annulus at the blastoderm margin, consisting of two layers in addition to the EVL, the epiblast and the hypoblast. The germ ring is formed by the involution of the blastoderm back upon itself[ZFA]." [http://www.fishbase.org/glossary/Glossary.php?q=germ%20ring] subset: early_development subset: efo_slim xref: AAO:0000211 xref: EFO:0003427 xref: MAT:0000255 xref: MIAA:0000255 xref: TAO:0000111 xref: ZFA:0000111 is_a: EFO:0003332 ! zebrafish embryonic structure is_a: UBERON:0002050 ! embryonic structure relationship: RO:0002174 NCBITaxon:40674 ! dubious_for_taxon property_value: external_definition "Embryonic structure that forms as a thickened annulus at the blastoderm rim. The germ ring is thickened because it is the involuting margin of the blastoderm[ZFIN:ZDB-PUB-961014-576]." xsd:string {source="ZFIN:ZDB-PUB-961014-576"} property_value: IAO:0000116 "TODO - check timing of appearance and disappearance - check relationship with primitive streak. he blastopore lips in amphibians appear to have the equivalent function of the germ ring in zebrafish (ES)" xsd:string [Term] id: UBERON:0002542 name: scale namespace: uberon def: "A small rigid plate that grows out of an animal's skin to provide protection. In lepidopteran (butterfly and moth) species, scales are plates on the surface of the insect wing, and provide coloration. Scales are quite common and have evolved multiple times with varying structure and function." [Wikipedia:Scale_(zoology)] subset: efo_slim subset: grouping_class synonym: "scale (sensu Metazoa)" EXACT [] synonym: "scale tissue" RELATED [BTO:0005055] synonym: "scales" RELATED PLURAL [] xref: BTO:0005055 xref: EFO:0000960 xref: HAO:0000907 xref: MAT:0000257 xref: MIAA:0000257 xref: Wikipedia:Scale_(zoology) is_a: UBERON:0000061 ! anatomical structure relationship: never_in_taxon NCBITaxon:311790 relationship: never_in_taxon NCBITaxon:314146 relationship: never_in_taxon NCBITaxon:33554 relationship: never_in_taxon NCBITaxon:7745 relationship: never_in_taxon NCBITaxon:91561 relationship: never_in_taxon NCBITaxon:9348 relationship: never_in_taxon NCBITaxon:9362 relationship: never_in_taxon NCBITaxon:9397 relationship: never_in_taxon NCBITaxon:9787 relationship: part_of UBERON:0002416 ! integumental system property_value: IAO:0000232 "currently defined in a very inclusive fashion - may be obsoleted and replaced by more specific classes in future versions. The TAO, VSAO amd ZFA classes by this name are classified as 'dermal scales'. Can also be classified by composition - e.g. pangolin keratin scales." xsd:string property_value: RO:0002175 NCBITaxon:9972 [Term] id: UBERON:0002544 name: digit namespace: uberon def: "A subdivision of the autopod that has as part a series of phalanges together with associated vasculature, musculature, integument and nerves. It is continuous with the metapodial subdivision of the autopod, but does not include the metapodials. In species such as humans, fully formed digits are distinct, whereas in other species the digits may be connected by interdigital webbing, or may be completely unseparated (for example, in cetaceans)." [http://orcid.org/0000-0002-6601-2165, https://github.com/obophenotype/uberon/issues/420] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "acropodial unit" EXACT [] synonym: "digit (phalangeal portion) plus soft tissue" EXACT COMPARATIVE_PREFERRED [http://orcid.org/0000-0002-6601-2165] synonym: "limb digit" EXACT [MA:0000690] xref: AAO:0011126 xref: EFO:0000881 xref: EMAPA:32725 xref: FMA:85518 {notes="GAT"} xref: galen:Digit xref: MA:0000690 xref: MAT:0000285 xref: MIAA:0000285 xref: NCIT:C40186 xref: SCTID:361367007 xref: UMLS:C0582802 {source="ncithesaurus:Digit"} xref: VHOG:0000944 xref: Wikipedia:Digit_(anatomy) xref: XAO:0003032 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000468 ! multicellular organism property_value: has_relational_adjective "digital" xsd:string property_value: homology_notes "Our reinterpretation of the distal fin endoskeleton of Panderichthys removes the final piece of evidence supporting the formerly popular hypothesis that tetrapod digits are wholly new structures without homologues in sarcopterygian fish fins. This hypothesis, which was based partly on the complete absence of plausible digit homologues in Panderichthys (then the closest known relative of tetrapods), has already been called into question by the discovery of digit-like radials in Tiktaalik and the fact that Hox gene expression patterns closely resembling those associated with digit formation in tetrapods occur in the distal fin skeletons of paddlefish and Australian lungfish. Our new data show that Panderichthys is not an anomaly: like Tiktaalik and other fish members of the Tetrapodomorpha, it has distal radials that can be interpreted as digit homologues.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000944", ontology="VHOG", source="DOI:10.1038/nature07339 Boisvert CA, Mark-Kurik E and Ahlberg PE, The pectoral fin of Panderichthys and the origin of digits. Nature (2008)", source="http://bgee.unil.ch/"} property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/alex-dececchi property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/balhoff property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/cmungall property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/wdahdul property_value: IAO:0000232 "this class represents the entire organism subdivision encompassing soft tissue as well as the underlying skeletal framework. The class represents the phalangeal part only - historically the term 'digit' has also been used to represent the unit consisting of a series of phalanges together with a metapodial bone. We may in future relabel this class to avoid confusion with this concept, but the class will continue to represent the phalangeal portion" xsd:string property_value: RO:0002171 UBERON:0009877 [Term] id: UBERON:0002581 name: postcentral gyrus namespace: uberon def: "Component of the parietal lobe. The appearance and disappearance of the central sulcus were the rostral and caudal boundaries of the postcentral gyrus respectively. The medial and lateral boundaries were the lateral bank of the precentral gyrus and the lateral fissure and/or the medial bank of the superior parietal gyrus respectively (Christine Fennema-Notestine)." [BIRNLEX:1070] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "gyrus centralis posterior" RELATED LATIN [NeuroNames:105] synonym: "gyrus postcentralis" EXACT LATIN [NeuroNames:105] synonym: "post central gyrus" RELATED [NeuroNames:105] synonym: "postcentral convolution" EXACT [FMA:61896] synonym: "posterior central gyrus" EXACT [FMA:61896] synonym: "postrolandic gyrus" EXACT [FMA:61896] synonym: "somatosensory cortex" RELATED [Wikipedia:Postcentral_gyrus] xref: BAMS:PoG xref: BIRNLEX:1070 xref: BTO:0004354 xref: DHBA:12132 xref: EFO:0001383 xref: FMA:61896 xref: HBA:4085 xref: NCIT:C33346 xref: neuronames:105 {source="BIRNLEX:1070"} xref: SCTID:279167001 xref: UMLS:C0152302 {source="BIRNLEX:1070", source="ncithesaurus:Postcentral_Gyrus"} xref: Wikipedia:Postcentral_gyrus is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000956 ! cerebral cortex relationship: part_of UBERON:0001869 ! cerebral hemisphere relationship: part_of UBERON:0001872 ! parietal lobe property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/6/66/Postcentral_gyrus.png xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0002623 name: cerebral peduncle namespace: uberon def: "Synonym for macrodissected adult human tegmentum (Vicq d'Azyr, 1784; Swanson, 2000); pp. 555-556. Later used thus by for example His (1893b, p. 178), Herrick (1915, p. 160), Strong & Elwyn (1943, p. 17), Carpenter (1976, p. 367), Williams & Warwick (1980, p. 935)." [BIRNLEX:1202] comment: Neuronames includes the substantia nigra, crus cerebri and midbrain tegmentum as substructures of the cerebral peduncle; the mouse atlases only include the crus cerebri as the cerebral peduncle (MM) subset: efo_slim subset: human_reference_atlas subset: uberon_slim synonym: "cerebal peduncle" RELATED [NeuroNames:487] synonym: "cerebral peduncle" EXACT [FMA:62394] synonym: "cerebral peduncle (archaic)" RELATED [NeuroNames:487] synonym: "CP" BROAD ABBREVIATION [BIRNLEX:1202, NIFSTD:NeuroNames_abbrevSource] synonym: "peduncle of midbrain" EXACT [FMA:62394] synonym: "pedunculi cerebri" RELATED LATIN [NeuroNames:487] synonym: "pedunculus cerebralis" RELATED LATIN [NeuroNames:487] synonym: "pedunculus cerebri" EXACT LATIN [FMA:62394, FMA:TA] synonym: "pedunculus cerebri" RELATED LATIN [Wikipedia:Cerebral_peduncle] synonym: "tegmentum" RELATED [] xref: BAMS:cpd xref: BIRNLEX:1202 xref: BM:CP xref: BTO:0004676 xref: EFO:0001987 xref: FMA:62394 xref: MBA:924 xref: MESH:D065850 xref: NCIT:C32291 xref: neuronames:487 {source="BIRNLEX:1202"} xref: SCTID:362391000 xref: UMLS:C0007793 {source="BIRNLEX:1202", source="ncithesaurus:Cerebral_Peduncle"} xref: Wikipedia:Cerebral_peduncle is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001017 ! central nervous system relationship: part_of UBERON:0001891 ! midbrain property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/e/e9/Gray689.png xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0002661 name: superior frontal gyrus namespace: uberon def: "Component of the frontal lobe, lateral aspect. The rostral boundary is the first appearance of the superior frontal sulcus whereas the caudal boundary is the midpoint of the paracentral sulcus on the 'inflated' surface. The medial and lateral boundaries are the medial aspect of the frontal lobe and the superior frontal sulcus respectively (Christine Fennema-Notestine)." [BIRNLEX:1303] subset: efo_slim subset: human_reference_atlas subset: uberon_slim synonym: "gyrus F1" RELATED LATIN [NeuroNames:83] synonym: "gyrus frontalis primus" RELATED LATIN [NeuroNames:83] synonym: "gyrus frontalis superior" RELATED LATIN [Wikipedia:Superior_frontal_gyrus] synonym: "marginal gyrus" EXACT [FMA:61857] synonym: "superior frontal convolution" EXACT [FMA:61857] xref: BAMS:SFG xref: BIRNLEX:1303 xref: BTO:0004836 xref: DHBA:12115 xref: EFO:0001991 xref: FMA:61857 xref: HBA:4021 xref: NCIT:C33674 xref: neuronames:83 {source="BIRNLEX:1303"} xref: SCTID:279166005 xref: UMLS:C0152296 {source="BIRNLEX:1303", source="ncithesaurus:Superior_Frontal_Convolution"} xref: Wikipedia:Superior_frontal_gyrus is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000956 ! cerebral cortex relationship: part_of UBERON:0001869 ! cerebral hemisphere relationship: part_of UBERON:0001870 ! frontal cortex property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/5/50/Superior_frontal_gyrus.png xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0002691 name: ventral tegmental area namespace: uberon def: "Unpaired midbrain region situated in the ventromedial portion of the reticular formation. The VTA is medial to the substantia nigra and ventral to the red nucleus, and extends caudally from the posterior hypothalamus in the diencephalon. The VTA contains dopamine neurons that project to various limbic and cortical areas and is a critical component of the brain's reward circuitry." [BIRNLEX:1415] subset: efo_slim subset: uberon_slim synonym: "a10a" EXACT LATIN [FMA:72438, FMA:TA] synonym: "area tegmentalis ventralis" RELATED LATIN [NeuroNames:521] synonym: "area tegmentalis ventralis (Tsai)" RELATED LATIN [NeuroNames:521] synonym: "tegmentum ventrale" RELATED [XAO:0004226] synonym: "ventral brain stem" RELATED [XAO:0004226] synonym: "ventral tegmental area (Tsai)" RELATED [NeuroNames:521] synonym: "ventral tegmental area of tsai" EXACT [FMA:72438] synonym: "ventral tegmental nucleus (Rioch)" RELATED [NeuroNames:521] synonym: "ventral tegmental nucleus (tsai)" EXACT [FMA:72438] synonym: "ventral tegmental nucleus of tsai" EXACT [FMA:72438] synonym: "ventromedial mesencephalic tegmentum" RELATED [BIRNLEX:1415] synonym: "VTA" BROAD ABBREVIATION [BIRNLEX:1415, NIFSTD:NeuroNames_abbrevSource] xref: BAMS:VTA xref: BIRNLEX:1415 xref: BM:MB-VTA xref: CALOHA:TS-2389 xref: DHBA:12261 xref: EFO:0001935 xref: EMAPA:35913 xref: FMA:72438 xref: GAID:587 xref: HBA:9066 xref: MBA:749 xref: MESH:D017557 xref: neuronames:521 {source="BIRNLEX:1415"} xref: UMLS:C0175405 {source="BIRNLEX:1415"} xref: Wikipedia:Ventral_tegmental_area xref: XAO:0004226 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/b/b6/Gray712.png xsd:anyURI property_value: external_definition "Region of the mesencephalon that arises from a small area of the neural plate, spanning the midline immediately adjacent, and being slightly posterior to the dorsal tegmentum area[XAO:0004226, PMID:2351962]." xsd:string {source="XAO:0004226, PMID:2351962"} property_value: RO:0002171 UBERON:0001715 {source="ABA"} property_value: RO:0002171 UBERON:0001944 {source="ABA"} property_value: RO:0002171 UBERON:0001947 {source="ABA"} property_value: RO:0002171 UBERON:0001966 {source="ABA"} property_value: RO:0002171 UBERON:0002141 {source="ABA"} property_value: RO:0002171 UBERON:0002438 {source="ABA"} property_value: RO:0002171 UBERON:0002696 {source="ABA"} property_value: RO:0002171 UBERON:0002722 {source="ABA"} property_value: RO:0002171 UBERON:0002995 {source="ABA"} property_value: RO:0002171 UBERON:0003040 {source="ABA"} [Term] id: UBERON:0002703 name: precentral gyrus namespace: uberon def: "Component of the frontal lobe. The appearance and disappearance of the central sulcus is the rostral and caudal boundaries of the precentral gyrus respectively. The medial boundary is specific frontal gyri (superior, middle and inferior) whereas the lateral boundary is the medial bank of the central sulcus (Christine Fennema-Notestine)." [BIRNLEX:1455] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "anterior central gyrus" RELATED [NeuroNames:89] synonym: "gyrus centralis anterior" RELATED LATIN [NeuroNames:89] synonym: "gyrus praecentralis" RELATED LATIN [NeuroNames:89] synonym: "motor cortex (Noback)" RELATED [NeuroNames:89] synonym: "precentral convolution" EXACT [FMA:61894] synonym: "prerolandic gyrus" EXACT [FMA:61894] xref: BAMS:PrG xref: BIRNLEX:1455 xref: DHBA:12114 xref: EFO:0001373 xref: FMA:61894 xref: HBA:4010 xref: NCIT:C33393 xref: neuronames:89 {source="BIRNLEX:1455"} xref: UMLS:C0152299 {source="BIRNLEX:1455", source="ncithesaurus:Precentral_Gyrus"} xref: Wikipedia:Precentral_gyrus is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000956 ! cerebral cortex relationship: part_of UBERON:0001869 ! cerebral hemisphere relationship: part_of UBERON:0001870 ! frontal cortex property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/e/eb/Ba4.png xsd:anyURI [Term] id: UBERON:0002728 name: entorhinal cortex namespace: uberon def: "Component of the temporal lobe on the mesial surface. The rostral and caudal boundaries of the entorhinal cortex are the rostral end of the collateral sulcus and the caudal end of the amygdala respectively. The medial boundary is the medial aspect of the temporal lobe and the lateral boundary is the collateral sulcus. (DK)." [BIRNLEX:1508, Wikipedia:Entorhinal_cortex] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "area entorhinalis (28,34)" RELATED LATIN [NeuroNames:168] synonym: "area entorhinalis ventralis et dorsalis" RELATED LATIN [NeuroNames:168] synonym: "Brodmann's area 28" RELATED [BTO:0002650] synonym: "cortex entorhinalis" RELATED LATIN [NeuroNames:168] synonym: "entorhinal area" EXACT [ABA:ENT, BTO:0002650, FMA:72356] synonym: "entorhinal cortex" RELATED INCONSISTENT [BIRNLEX:1508] xref: BAMS:ENT xref: BAMS:Ent xref: BIRNLEX:1508 xref: BM:Tel-Cx-ENT xref: BTO:0002650 xref: DHBA:10317 xref: DMBA:16102 xref: EFO:0001920 xref: EMAPA:35313 xref: FMA:72356 xref: GAID:636 xref: MA:0003117 xref: MBA:909 xref: MESH:D018728 xref: NCIT:C97338 xref: neuronames:168 {source="BIRNLEX:1508"} xref: PBA:294022158 xref: SCTID:369099007 xref: UMLS:C0175196 {source="ncithesaurus:Entorhinal_Cortex", source="BIRNLEX:1508"} xref: Wikipedia:Entorhinal_cortex is_a: UBERON:0000061 ! anatomical structure property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/f/f8/Gray-Brodman-Entorhinal_Cortex_EC_.png xsd:anyURI property_value: IAO:0000116 "TODO - check area vs complex. MBA:909 this is part of the hippocampal formation via retrohippocampal region" xsd:string property_value: RO:0002171 UBERON:0001953 {source="ABA"} property_value: RO:0002171 UBERON:0002191 {source="ABA"} property_value: RO:0002171 UBERON:0004683 {source="ABA"} property_value: taxon_notes "In primates it is found on the medial surface of the temporal lobe, partially bounded ventrolaterally by the collateral sulcus in the human and by the rhinal sulcus in the macaque. It is subdivided on the basis of internal structure into eight parts in the human ( Insausti-2004 ),and seven parts in the macaque ( Paxinos-2009a ). In the rat and mouse it is divided into a lateral part of the entorhinal area and a medial part of the entorhinal area; the latter is further divided into dorsal and ventral zones to produce three subdivisions in the rodent ( Swanson-2004 )" xsd:string [Term] id: UBERON:0002769 name: superior temporal gyrus namespace: uberon def: "Component of the temporal lobe, lateral aspect. The rostral boundary is the rostral extent of the ssuperior temporal sulcus. The caudal boundary is the cauday portion of the superior temporal gyrus (posterior to becoming continuous with the supramarginal gyrus). The medial boundary is the lateral fissure (and when present the supramarginal gyrus), and the lateral boundary is the superior temporal suclus (Christine Fennema-Notestine)." [BIRNLEX:1648] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "gyrus temporalis superior" EXACT [BIRNLEX:1648] synonym: "gyrus temporalis superior" RELATED LATIN [Wikipedia:Superior_temporal_gyrus] xref: BAMS:STG xref: BIRNLEX:1648 xref: BM:Tel-STG xref: DHBA:12140 xref: EFO:0001944 xref: FMA:61905 xref: HBA:4133 xref: NCIT:C33698 xref: ncithesaurus:Superior_Temporal_Gyrus xref: neuronames:136 {source="BIRNLEX:1648"} xref: SCTID:362345008 xref: UMLS:C0152309 {source="BIRNLEX:1648"} xref: Wikipedia:Superior_temporal_gyrus is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000956 ! cerebral cortex relationship: part_of UBERON:0001869 ! cerebral hemisphere relationship: part_of UBERON:0001871 ! temporal lobe property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/1/1d/Superior_temporal_gyrus.png xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0002771 name: middle temporal gyrus namespace: uberon def: "Component of the temporal lobe, lateral aspect. The rostral boundary is the rostral extent of the superior temporal sulcus whereas the caudal boundary is the temporo-occipital incisure on the cortical surface. The superior temporal sulcus is the medial boundary and the inferior temporal sulcus is the lateral boundary (Christine Fennema-Notestine)." [BIRNLEX:1653] subset: efo_slim subset: human_reference_atlas subset: uberon_slim synonym: "gyrus temporalis medius" EXACT [BIRNLEX:1653] synonym: "inferior temporal gyrus (Seltzer)" RELATED [NeuroNames:137] synonym: "intermediate temporal gyrus" EXACT [FMA:61906] synonym: "medial temporal gyrus" RELATED [Wikipedia:Middle_temporal_gyrus] synonym: "middle (medial) temporal gyrus" RELATED [BAMS:MTG] xref: BAMS:MTG xref: BIRNLEX:1653 xref: DHBA:12141 xref: EFO:0002466 xref: FMA:61906 xref: HBA:4140 xref: NCIT:C33125 xref: ncithesaurus:Middle_Temporal_Gyrus xref: neuronames:137 {source="BIRNLEX:1653"} xref: SCTID:279190006 xref: UMLS:C0152310 {source="BIRNLEX:1653"} xref: Wikipedia:Middle_temporal_gyrus is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000956 ! cerebral cortex relationship: part_of UBERON:0001869 ! cerebral hemisphere relationship: part_of UBERON:0001871 ! temporal lobe property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/4/49/WOROI_60_loc.png xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0002827 name: vestibulocochlear ganglion namespace: uberon def: "The group of neuron cell bodies associated with the eighth cranial nerve during embryogenesis; splits in later development to form the cochlear and vestibular ganglia." [MGI:smb, MP:0003703] subset: efo_slim subset: pheno_slim subset: vertebrate_core synonym: "acoustic ganglion" RELATED [VHOG:0000696] synonym: "acoustic ganglion VIII" EXACT [EMAPA:16982] synonym: "acoustico-vestibular VIII ganglion" EXACT [EHDAA2:0002196] synonym: "auditory ganglion" EXACT [ZFA:0000588] synonym: "auditory ganglion" RELATED [BIRNLEX:2564] synonym: "ganglion VIII" EXACT [] synonym: "gVIII" EXACT [ZFA:0000588] synonym: "nucleus nervi oculomotorii ventrolateralis" RELATED LATIN [NeuroNames:496] synonym: "nucleus nervi oculomotorii, pars ventralis" RELATED LATIN [NeuroNames:496] synonym: "SAG" BROAD [ZFA:0000588] synonym: "statoacoustic (VIII) ganglion" EXACT [ZFA:0000588] synonym: "statoacoustic ganglia" EXACT [ZFA:0000588] synonym: "statoacoustic ganglion" EXACT [XAO:0004142] synonym: "statoacoustic VIII ganglion" RELATED [VHOG:0000696] synonym: "vestibulocochlear ganglia" RELATED PLURAL [XAO:0004142] synonym: "vestibulocochlear VIII ganglion" EXACT [MA:0001084] xref: BIRNLEX:2564 xref: EFO:0003543 xref: EHDAA2:0002196 xref: EHDAA:5569 xref: EHDAA:6653 xref: EMAPA:16982 xref: EMAPA:17571 xref: MA:0001084 xref: neuronames:496 {source="BIRNLEX:2564"} xref: TAO:0000588 xref: UMLS:C0037959 {source="BIRNLEX:2564"} xref: VHOG:0000696 xref: XAO:0004142 xref: ZFA:0000588 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001714 ! cranial ganglion property_value: external_definition "The sensory ganglion of the ear. (See Anatomical Atlas entry for statoacoustic ganglion by T. Whitfield.)[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000588", ontology="TAO", source="ZFIN:curator"} property_value: homology_notes "(During the development of the inner ear in a vertebrate embryo) As the otic placode invaginates into a cup neuroblasts delaminate from the anterior ventral aspect of the otic epithelium to give rise to neurons of the vestibulocochlear (statoacoustic) ganglion of cranial nerve VIII.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000696", ontology="VHOG", source="PMID:21452441 Park BY, Saint-Jeannet JP, Induction and Segregation of the Vertebrate Cranial Placodes. Developmental Biology (2010)", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "Consider follow MA naming scheme." xsd:string property_value: UBPROP:0000013 "The cell bodies of the cochlear nerve lie within the central aspect of the cochlea and are collectively known as the spiral ganglion. This name reflects the fact that the cell bodies, considered as a unit, have a spiral (or perhaps more accurately, a helical) shape, reflecting the shape of the cochlea. The terms 'cochlear nerve fiber' and 'spiral ganglion cell' are used, to some degree, interchangeably, although the former may be used to more specifically refer to the central axons of the cochlear nerve. These central axons exit the cochlea at its base, where it forms a nerve trunk. In humans, this aspect of the nerve is roughly one inch in length. It projects centrally to the brainstem, where its fibers synapse with the cell bodies of the cochlear nucleus" xsd:string {source="Wikipedia:Cochlear_nerve"} [Term] id: UBERON:0002924 name: terminal nerve namespace: uberon def: "The terminal nerve, located anterior to cranial nerve I, is comprised of a group of cells with somata adjacent to the olfactory bulb and processes that extend anteriorly to the olfactory epithelium and posteriorly to the telencephalon. In teleost fish an additional group of axons extends along the optic tract and delivers putative neuromodulators to the retina. It is thought to develop from cranial neural crest." [PMID:15821344, Wikipedia:Terminal_nerve, ZFIN:ZDB-PUB-041202-1] comment: http://www.ncbi.nlm.nih.gov/pubmed/2286018 state: 'The presence of an additional cranial nerve (the nervus terminalis or cranial nerve zero) is well documented in many non-human vertebrate species. However, its existence in the adult human has been disputed. The present study focused on the structure and incidence of this nerve in the adult human brain. The nerve was examined post-mortem in 10 adult brains using dissection microscopy, light microscopy, transmission electron microscopy, and immunohistochemistry. In all specimens, the nervus terminalis was identified bilaterally as a microscopic plexus of unmyelinated peripheral nerve fascicles in the subarachnoid space covering the gyrus rectus of the orbital surface of the frontal lobes. The plexus appeared in the region of the cribriform plate of the ethmoid and coursed posteriorly to the vicinity of the olfactory trigone, medial olfactory gyrus, and lamina terminalis. We conclude that the terminal nerve is a common finding in the adult human brain, confirming early light microscopic reports.' subset: efo_slim subset: uberon_slim synonym: "cranial nerve 0" EXACT [Wikipedia:Terminal_nerve] synonym: "cranial nerve zero" EXACT [Wikipedia:Terminal_nerve] synonym: "nervus terminalis" EXACT [ZFA:0001356] synonym: "terminalis" BROAD [ISBN:0471888893] synonym: "terminalis nerve" EXACT [ISBN:0471888893] synonym: "TRN" BROAD ABBREVIATION [BIRNLEX:4044, NIFSTD:NeuroNames_abbrevSource] xref: BAMS:tn xref: BAMS:trn xref: BIRNLEX:4044 xref: EFO:0003678 xref: MBA:885 xref: neuronames:33 {source="BIRNLEX:4044"} xref: TAO:0001356 xref: UMLS:C0262346 {source="BIRNLEX:4044"} xref: UMLS:C1185749 {source="BIRNLEX:4044"} xref: Wikipedia:Terminal_nerve xref: ZFA:0001356 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001021 ! nerve relationship: part_of UBERON:0000033 ! head relationship: part_of UBERON:0001016 ! nervous system property_value: external_definition "The terminal nerve, located anterior to cranial nerve I, is comprised of a group of cells with somata adjacent to the olfactory bulb and processes that extend anteriorly to the olfactory epithelium and posteriorly to the telencephalon. In teleost fish an additional group of axons extends along the optic tract and delivers putative neuromodulators to the retina. It is thought to develop from cranial neural crest. Whitlock 2004. Also see Grens, Greenwood and Fernald, Brain Behav Evol 2005; 66(1):1-9.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0001356", ontology="TAO", source="ZFIN:curator"} [Term] id: UBERON:0003027 name: cingulate cortex namespace: uberon def: "The cingulate cortex is a part of the brain situated in the medial aspect of the cortex. It is extended from the corpus callosum below to the cingulate sulcus above, at least anteriorly. [WP,unvetted]." [Wikipedia:Cingulate_cortex] subset: efo_slim subset: uberon_slim synonym: "cingulate neocortex" EXACT [DHBA:10277] synonym: "gyrus cingulatus" RELATED LATIN [Wikipedia:Cingulate_cortex] synonym: "gyrus cinguli" RELATED PLURAL [] xref: BIRNLEX:934 xref: BM:Tel-Cx-Cg xref: BTO:0003975 xref: DHBA:10277 xref: DMBA:16072 xref: EFO:0000343 xref: EMAPA:35242 xref: MA:0000904 xref: NCIT:C52713 xref: UMLS:C0598179 {source="ncithesaurus:Cingulate_Cortex", source="BIRNLEX:934"} xref: Wikipedia:Cingulate_cortex is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/d/dc/Gray727_cingulate_gyrus.png xsd:anyURI [Term] id: UBERON:0003040 name: central gray substance of midbrain namespace: uberon def: "Periaqueductal gray (PAG; also called the 'central gray') is the gray matter located around the cerebral aqueduct within the midbrain. It plays a role in the descending modulation of pain and in defensive behaviour. The ascending pain and temperature fibers of the spinothalamic tract also send information to the PAG via the spinomesencephalic tract. The spinomesencephalic tract is so-named because the fibers originate in the spine and terminate in the mesencephalon, another name for the midbrain, the part of the brain in which the PAG resides. [WP,unvetted]." [http://sourceforge.net/p/obo/mouse-anatomy-requests/40/, Wikipedia:Periaqueductal_gray] subset: efo_slim subset: human_reference_atlas subset: uberon_slim subset: vertebrate_core synonym: "anulus aquaeductus" RELATED LATIN [NeuroNames:510] synonym: "anulus aqueductus cerebri" RELATED LATIN [NeuroNames:510] synonym: "anulus of cerebral aqueduct" EXACT [FMA:74510] synonym: "central (periaqueductal) gray" EXACT [FMA:74510] synonym: "central gray" RELATED [BAMS:PAG] synonym: "central gray of the midbrain" RELATED [NeuroNames:510] synonym: "central gray substance of the midbrain" RELATED [NeuroNames:510] synonym: "central grey" RELATED [MA:0000209] synonym: "central grey substance of midbrain" RELATED [NeuroNames:510] synonym: "CGMB" BROAD ABBREVIATION [BIRNLEX:973, NIFSTD:NeuroNames_abbrevSource] synonym: "griseum centrale" BROAD [BIRNLEX:973] synonym: "griseum centrale mesencephali" RELATED LATIN [NeuroNames:510] synonym: "griseum periventriculare mesencephali" RELATED LATIN [NeuroNames:510] synonym: "midbrain periaqueductal grey" EXACT [MA:0000209] synonym: "pAG" RELATED [NeuroNames:510] synonym: "periaquectuctal grey" RELATED DUBIOUS [https://sourceforge.net/tracker/?func=detail&aid=3209233&group_id=76834&atid=1205376, MA:0002895] synonym: "periaqueductal gray" EXACT [FMA:74510] synonym: "periaqueductal gray matter" EXACT [FMA:74510] synonym: "periaqueductal gray of tegmentum" EXACT [FMA:74510] synonym: "periaqueductal gray, proper" RELATED [BAMS:PAG] synonym: "periaqueductal grey" EXACT [MA:0002895] synonym: "periaqueductal grey matter" EXACT [EV:0100249] synonym: "periaqueductal grey substance" EXACT [FMA:74510] synonym: "s. grisea centralis" RELATED LATIN [Wikipedia:Periaqueductal_gray] synonym: "substantia grisea centralis" BROAD [BIRNLEX:973] synonym: "substantia grisea centralis mesencephali" RELATED LATIN [NeuroNames:510] xref: BAMS:CGMB xref: BAMS:PAG xref: BIRNLEX:973 xref: BM:MB-PAG xref: BTO:0002701 xref: DHBA:12209 xref: EFO:0002470 xref: EMAPA:32781 xref: EV:0100249 xref: FMA:74510 xref: GAID:585 xref: HBA:9003 xref: MA:0000209 xref: MA:0002895 xref: MBA:795 xref: MESH:D010487 xref: neuronames:510 {source="BIRNLEX:973"} xref: SCTID:369233003 xref: TAO:0000518 xref: UMLS:C0228398 {source="BIRNLEX:973"} xref: Wikipedia:Periaqueductal_gray xref: ZFA:0000518 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001017 ! central nervous system relationship: part_of UBERON:0001891 ! midbrain property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/d/da/Cn3nucleus.png xsd:anyURI property_value: RO:0002171 UBERON:0001715 {source="ABA"} property_value: RO:0002171 UBERON:0001944 {source="ABA"} property_value: RO:0002171 UBERON:0001947 {source="ABA"} property_value: RO:0002171 UBERON:0001966 {source="ABA"} property_value: RO:0002171 UBERON:0002141 {source="ABA"} property_value: RO:0002171 UBERON:0002438 {source="ABA"} property_value: RO:0002171 UBERON:0002691 {source="ABA"} property_value: RO:0002171 UBERON:0002696 {source="ABA"} property_value: RO:0002171 UBERON:0002722 {source="ABA"} property_value: RO:0002171 UBERON:0002995 {source="ABA"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0003050 name: olfactory placode namespace: uberon def: "A thick plate of cells derived from the neural ectoderm in the head region of the embryo that develops into the olfactory region of the nasal cavity." [Wikipedia:Nasal_placode, XAO:0000005] comment: Olfactory placodes are the only ectodermal placodes to produce glia, a cell type typically derived from neural crest // Note that NBK53171 classifies this as non-neurogenic subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "nasal I placode" RELATED [] synonym: "nasal placode" RELATED [] synonym: "olfactory placodes" EXACT PLURAL [] synonym: "placoda nasalis" EXACT LATIN [] synonym: "placoda olfactoria" EXACT LATIN [] xref: AAO:0011076 xref: EFO:0003420 xref: EHDAA2:0001232 xref: EHDAA:1504 xref: EMAPA:16543 xref: FMA:293971 xref: TAO:0000048 xref: VHOG:0000186 xref: Wikipedia:Nasal_placode xref: XAO:0000005 xref: ZFA:0000048 is_a: UBERON:0009955 ! neurogenic placode relationship: part_of UBERON:0000922 ! embryo property_value: homology_notes "We conclude this section by listing some of the many synapomorphies of craniates, including (...) (2) neurogenic placodes (...).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000186", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.43", source="http://bgee.unil.ch/"} [Term] id: UBERON:0003053 name: ventricular zone namespace: uberon def: "Proliferative region that is part of the ventricular system." [ZFA:0001083] subset: efo_slim subset: vertebrate_core synonym: "brain ventricular zone" EXACT [MA:0000819] synonym: "ventricular zone of brain" EXACT [] synonym: "ventricular zones" RELATED PLURAL [ZFA:0001083] synonym: "VZ" EXACT [] xref: AAO:0011112 xref: BTO:0003654 xref: DHBA:10542 xref: EFO:0003624 xref: EMAPA:32679 xref: MA:0000819 xref: PBA:294022030 xref: TAO:0001083 xref: VHOG:0001224 xref: XAO:0000021 xref: ZFA:0001083 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0005281 ! ventricular system of central nervous system property_value: external_definition "Proliferative zone in the region of the neural tube adjacent to the lumen." xsd:string {source="http://www.dartmouth.edu/~rswenson/NeuroSci/chapter_4.html"} property_value: external_definition "There are two primary regions that are thought to give rise to neurons that make up the cerebellum. The first region is the ventricular zone (the roof of the fourth ventricle). This area produces Purkinje cells and deep cerebellar nuclear neurons[BTO:0003654]." xsd:string {source="BTO:0003654"} property_value: UBPROP:0000012 "in BTO this is restricted to the 4th ventricle - however this class also represents the early ventricular zone as well as its post-natal remnants. The MA class is named 'ventricular zone of brain' and is presumably restricted to the post-natal zone; DHBA class is forebrain; PBA class is neocortex; TAO/ZFA is neocortex" xsd:string {external_ontology="BTO"} [Term] id: UBERON:0003058 name: hypochord namespace: uberon def: "The hypochord is a transient rod-like structure in the embryos of fish, lampreys and amphibians that is located immediately ventral to the notochord. The hypochord may play a role in positioning the dorsal aorta[GO]." [AAO:0000733, GO:0055016, ISBN:0815318960, PMID:10648245] comment: Unlike in frogs and axolotl, the hypochord does not appear to be endodermally derived[ZFA]. near metamorphosis the hypochord fuses to the coccyx, thereby forming the urostyle[AAO] subset: dubious_grouping subset: efo_slim synonym: "ipochord" EXACT [XAO:0000056] synonym: "subnotochordal rod" EXACT [GO:0055016, PMID:10648245] xref: AAO:0000733 xref: EFO:0003475 xref: TAO:0000031 xref: VHOG:0000081 xref: XAO:0000056 xref: ZFA:0000031 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000468 ! multicellular organism property_value: external_definition "A transient rod-like structure which is endodermally derived and located immediately ventral to the notochord. The hypochord is thought to play a role in positioning the dorsal aorta. Eriksson and Lofberg, 2000.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000031", ontology="TAO", source="ZFIN:curator"} property_value: external_definition "Unsegmented ventral structure in the caudal region of anuran larvae; near metamorphosis the hypochord fuses to the coccyx, thereby forming the urostyle.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000733", ontology="AAO", source="AAO:Pugener_2002"} property_value: homology_notes "In other words, we identified variations in gene expression patterns that may contribute to a molecular basis of evolutionary variation of axial structures between Teleostei and Mammalia in the determination of body axis. As already mentioned, one such difference is illustrated by the hypochord present in lower vertebrates but absent in higher animals. Perhaps, Tbx-b and Tbx-c are involved in the mechanisms underlying the formation of this organ that were lost during later evolution leading to the disappearance of the hypochord itself, similarly to other organs, such as the lateral line.[uncertain][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000081", ontology="VHOG", source="PMID:11548409 Korzh VP, T-box genes and developmental decisions that cells make. Russian Journal of Developmental Biology (2001)", source="http://bgee.unil.ch/"} [Term] id: UBERON:0003059 name: presomitic mesoderm namespace: uberon def: "Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form." [ZFIN:curator] subset: efo_slim subset: pheno_slim synonym: "presumptive somite mesoderm" RELATED [] synonym: "PSM" RELATED [] synonym: "segmental plate" EXACT [] synonym: "somitogenic mesoderm" RELATED [] synonym: "somitomeric mesoderm" RELATED [GO:0002075] synonym: "unsegmented mesenchyme" RELATED [VHOG:0000559] synonym: "unsegmented paraxial mesoderm" EXACT [https://orcid.org/0000-0002-6601-2165] xref: AAO:0011086 xref: EFO:0001982 xref: EMAPA:16189 xref: EMAPA:16752 xref: TAO:0000279 xref: VHOG:0000559 xref: XAO:0000057 xref: ZFA:0000279 is_a: UBERON:0000061 ! anatomical structure is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0003077 ! paraxial mesoderm property_value: external_definition "Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form. Kimmel et al, 1995.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000279", ontology="TAO", source="ZFIN:curator"} property_value: homology_notes "It is reasonable to assume that the proximate invertebrate ancestor of the vertebrates had an amphioxus-like tail bud in its larval stage. This archetypal tail bud would have (...) (3) lacked any component of mesenchyme cells, (4) budded off new mesodermal segments directly, without any intervening zone of presomitic mesoderm (...). Then, early in vertebrate evolution, epithelium-to-mesenchyme interconversions (and the gene networks for effecting them) became prominent features of development. (...) In any case, conspicuous mesenchymal components tended to be added to the vertebrate tail bud itself. In addition, a mesenchymatous presomitic mesoderm (not a part of the tail bud proper) came to intervene between the tail bud and the forming somites.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000559", ontology="VHOG", source="DOI:10.1006/dbio.2001.0460 Schubert M, Holland LZ, Dale Stokes M and Holland ND, Three Amphoxius Wnt Genes (AmphiWnt3, AmphiWnt5, and AmphiWnt6) Associated with the Tail Bud: the Evolution of Somitogenesis in Chordates. Developmental Biology (2001)", source="http://bgee.unil.ch/"} [Term] id: UBERON:0003061 name: blood island namespace: uberon def: "Blood islands are structures in the developing embryo which lead to many different parts of the circulatory system. They primarily derive from plexuses formed from angioblasts. Within them, vacuoles appear through liquefaction of the central part of the syncytium into plasma. The lumen of the blood vessels thus formed is probably intracellular. The flattened cells at the periphery form the endothelium. The nucleated red blood corpuscles develop either from small masses of the original angioblast left attached to the inner wall of the lumen or directly from the flat endothelial cells. In either case the syncytial mass thus formed projects from and is attached to the wall of the vessel. Such a mass is known as a blood island and hemoglobin gradually accumulates within it. Later the cells on the surface round up, giving the mass a mulberry-like appearance. Then the red blood cells break loose and are carried away in the plasma. Such free blood cells continue to divide. Blood islands have been seen in the area vasculosa in the omphalomesenteric vein and arteries, and in the dorsal aorta[WP, unvetted]." [Wikipedia:Blood_island_of_umbilical_vesicle] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "blood islands" EXACT PLURAL [] synonym: "caudal hematopoietic tissue" RELATED [] synonym: "posterior blood island" RELATED [] synonym: "posterior ICM" RELATED [] synonym: "VBI" RELATED [] synonym: "ventral blood island" RELATED [] synonym: "ventral lateral plate mesoderm" BROAD [] xref: AAO:0011006 xref: EFO:0003489 xref: EHDAA:207 xref: NCIT:C34113 xref: TAO:0000094 xref: TE:E5.11.2.0.0.0.4 xref: UMLS:C1511224 {source="ncithesaurus:Blood_Island"} xref: VHOG:0000085 xref: Wikipedia:Blood_island_of_umbilical_vesicle xref: XAO:0000067 xref: ZFA:0000094 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo property_value: axiom_lost_from_external_ontology "relationship loss: part_of intermediate cell mass of mesoderm (TAO:0000033)[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000094", ontology="TAO"} property_value: external_definition "Nests of developing blood cells arising late in the segmentation period from the intermediate mass, and located in the anterior-ventral tail, just posterior to the yolk extension. Kimmel et al, 1995.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000094", ontology="TAO", source="ZFIN:curator"} property_value: external_definition "Region located on the ventral surface of the developing embryo that is a site of hematopoiesis and that is analogous to the yolk sac blood islands of higher vertebrates.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0011006", ontology="AAO", source="AAO:EJS"} property_value: homology_notes "Small clusters of mesodermal cells called blood islands mark the embryonic debut of the cardiovascular system (in vertebrates) (reference 1); In birds and mammals, primitive hemangioblasts are extraembryonic, populating the yolk sac as the so-called blood islands (reference 2).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000085", ontology="VHOG", source="ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.450, DOI:10.1146/annurev.cellbio.22.010605.093317 Hartenstein V, Blood cells and blood cell development in the animal kingdom. Annual Review of Cell and Developmental Biology (2006)", source="http://bgee.unil.ch/"} property_value: UBPROP:0000012 "EHDAA2 distinguishes 3 types, but does not have a superclass. The VHOG class may refer to yolk sac" xsd:string {external_ontology="EHDAA2"} [Term] id: UBERON:0003065 name: ciliary marginal zone namespace: uberon def: "Region at the periphery of the retina where retinal stem cells are located. After 60 hpf, the CMZ is the source of most retinal growth.[Wehman et al, 2005]." [ZFIN:curator] subset: efo_slim subset: uberon_slim synonym: "circumferential germinal zone" RELATED [] synonym: "CMZ" RELATED [] synonym: "peripheral growth zone" EXACT [ZFA:0001289] synonym: "retinal ciliary marginal zone" EXACT [ZFA:0001289] synonym: "retinal proliferative zone" RELATED [ZFA:0001289] xref: AAO:0010342 xref: EFO:0003668 xref: TAO:0001289 xref: VHOG:0000088 xref: XAO:0000086 xref: ZFA:0001289 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000966 ! retina property_value: external_definition "Region at the periphery of the retina where retinal stem cells are located. After 60 hpf, the CMZ is the source of most retinal growth. Wehman et al, 2005.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0001289", ontology="TAO", source="ZFIN:curator"} property_value: homology_notes "The retina of all vertebrates develops via similar mechanisms. Toward the end of retinal histogenesis, proliferating progenitors and newly generated cells are confined to peripheral regions of the retina. In fish and amphibians, this region is maintained after embryonic development and becomes the CMZ (ciliary margin zone). A CMZ exists in birds but compared to that of fish and amphibians this region produces much less new retina as the globe of the eye expands postnatally. At least some of the molecular mechanisms that regulate the addition of new cells in this zone appear to have been conserved from fish to birds.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000088", ontology="VHOG", source="DOI:10.1159/000057571 Reh TA, Fischer AJ, Stem cells in the vertebrate retina. Brain Behav Evol (2001)", source="http://bgee.unil.ch/"} [Term] id: UBERON:0003068 name: axial mesoderm namespace: uberon def: "The axial mesoderm includes the prechordal mesoderm and the chordamesoderm. It gives rise to the prechordal plate and to the notochord." [GO:0048318, Wikipedia:Chordamesoderm] subset: efo_slim subset: uberon_slim synonym: "chordamesoderm" RELATED [Wikipedia:Chordamesoderm] xref: AAO:0011017 xref: EFO:0003647 xref: TAO:0001204 xref: VHOG:0000107 xref: Wikipedia:Chordamesoderm xref: XAO:0000205 xref: ZFA:0001204 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0000926 ! mesoderm property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/6/64/Gray19_with_color.png xsd:anyURI property_value: external_definition "The portion of the mesoderm underlying the midline of the embryo. [Gastrulation:_From_cells_to_embryo_(2004)_Cold_Spring_Harbor, Glossary_XV, New_York:_Cold_Spring_Harbor_Laboratory_Press, Stern_CD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000107", ontology="VHOG", source="http://bgee.unil.ch/"} [Term] id: UBERON:0003069 name: otic placode namespace: uberon def: "A cranial placode which, once specified, invaginates to form an otic cup, which eventually separates from the surface ectoderm to form the otic vesicle or otocyst, a rounded structure without appar- ent polarity. As the otic placode invaginates into a cup neuroblasts delaminate from the anterior ventral aspect of the otic epithelium to give rise to neurons of the vestibulocochlear (statoacoustic) ganglion of cranial nerve VIII[NBK]." [NCBIBook:NBK53175, Wikipedia:Otic_placode] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "auditory placode" RELATED [] synonym: "ear placode" RELATED [] synonym: "ear/otic placode" RELATED [] synonym: "octaval placode" RELATED [ISBN:0471888893] synonym: "octaval VIII placode" RELATED [ISBN:0471888893] synonym: "placoda otica" EXACT LATIN [] xref: AAO:0011079 xref: EFO:0003429 xref: EHDAA2:0001339 xref: EHDAA:506 xref: EMAPA:16195 xref: FMA:293973 xref: NCIT:C34239 xref: TAO:0000138 xref: UMLS:C1518677 {source="ncithesaurus:Otic_Placodes"} xref: VHOG:0000235 xref: Wikipedia:Otic_placode xref: XAO:0000223 xref: ZFA:0000138 is_a: UBERON:0009955 ! neurogenic placode relationship: part_of UBERON:0001690 ! ear property_value: external_definition "Primordium of the ear epithelium before it hollows into the otic vesicle, present beside the hindbrain rudiment in the midsegmentation period. Kimmel et al, 1995. (Also see Anatomical Atlas entry for ear by T. Whitfield.)[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000138", ontology="TAO", source="ZFIN:curator"} property_value: homology_notes "We conclude this section by listing some of the many synapomorphies of craniates, including (...) (2) neurogenic placodes (...).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000235", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.43", source="http://bgee.unil.ch/"} property_value: UBPROP:0000011 "With the exception of the pigment cells of the stria vascularis and the secretory epithelium of the cochlea, which are of neural crest origin, all compo- nents of the inner ear derive from the otic placode. In most species the thickening of the ectoderm into a placode occurs in a region adjacent to rhombomere 5 (reviewed in Ohyama et al., 2007), while in amphibians the otic placode is centered onto rhombomere 4 (Ruiz i Altaba and Jessell, 1991)." xsd:string {source="NCBIBook:NBK53175"} [Term] id: UBERON:0003070 name: trigeminal placode complex namespace: uberon def: "A neurogenic placode that arises at the level of the midbrain-hindbrain boundary and develops into a trigeminal ganglion." [http://orcid.org/0000-0002-6601-2165, https://github.com/obophenotype/uberon/issues/693, PMID:22512454] subset: efo_slim synonym: "profundus placode" RELATED INCONSISTENT [ISBN:0471888893] synonym: "profundus V placode" RELATED INCONSISTENT [ISBN:0471888893] synonym: "trigeminal placode" EXACT [EHDAA2:0004209, VHOG:0000109, XAO:0000225, ZFA:0000162] synonym: "trigeminal placodes" RELATED PLURAL [ZFA:0000162] synonym: "trigeminal V placode" EXACT [] xref: EFO:0003433 xref: EHDAA2:0004209 xref: TAO:0000162 xref: VHOG:0000109 xref: XAO:0000225 xref: ZFA:0000162 is_a: UBERON:0009955 ! neurogenic placode property_value: external_definition "The ectodermal precursor of the trigeminal ganglion. The profundal and the trigeminal ganglia are separate distally but fused at their proximal end as they condense around NF stage 24.[XAO]" xsd:string {ontology="XAO"} property_value: external_definition "The ectodermal rudiment of the trigeminal ganglion, distinguishable during much of the segmentation period. Kimmel et al, 1995.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000162", ontology="TAO", source="ZFIN:curator"} property_value: homology_notes "The dorsolateral placodes (trigeminal and vestibular) develop from ectoderm lateral to the brain (...). In summary, the collective term 'placodes' refers to some rather different structures, probably with different evolutionary origins. Some sensory placodes (at least the otic and olfactory) may have homologues in basal chordates. Even if this is so, it is apparent that they were elaborated considerably during early vertebrate evolution. Epibranchial and dorsolateral placodes appear to be new; we infer that their origin depended on the evolution of specific inductive signals.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000109", ontology="VHOG", source="DOI:10.1073/pnas.97.9.4449 Shimeld SM and Holland PW. Vertebrate innovations. PNAS (2000)", source="http://bgee.unil.ch/"} property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/ANiknejad property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/cmungall property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/mellybelly property_value: UBPROP:0000013 "Consider naming this 'trigeminal placode complex'. Also, Fig9-5 of ISBN:0471888893 calls this the profundus placode; XAO says 'profundal and the trigeminal ganglia are separate distally but fused at their proximal end...'" xsd:string [Term] id: UBERON:0003071 name: eye primordium namespace: uberon alt_id: UBERON:0005060 def: "Portion of tissue that is part of the anterior neural keel and will form the optic vesicle[ZFA]. A paired ectodermal placode that becomes invaginated to form the embryonic lens vesicles." [GO:0046619, ZFA:0000570] subset: efo_slim synonym: "eye anlage" RELATED [XAO:0000227] synonym: "eye field" RELATED [] synonym: "eye placode" EXACT [OBOL:automatic] synonym: "occular primordium" EXACT [] synonym: "ocular primordium" EXACT [] synonym: "optic field" RELATED [] synonym: "optic placode" EXACT [GO:0046619] synonym: "optic placode of camera-type eye" EXACT [GO:0046619, https://orcid.org/0000-0002-6601-2165] synonym: "optic placodes" RELATED PLURAL [] synonym: "optic primordium" EXACT [] xref: AAO:0011038 xref: EFO:0003541 xref: EHDAA2:0004431 xref: TAO:0000570 xref: XAO:0000227 xref: XAO:0004090 xref: ZFA:0000570 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0000483 ! epithelium is_a: UBERON:0001048 ! primordium is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0002050 ! embryonic structure property_value: UBPROP:0000012 "TODO - check that GO's optic placode is the same as ZFA's eye primordium; we may want to have separate term for ocular primordium precursor. XAO has both optic field and eye primordium." xsd:string {external_ontology="GO"} [Term] id: UBERON:0003073 name: lens placode namespace: uberon def: "A thickened portion of ectoderm which serves as the precursor to the lens. SOX2 and Pou2f1 are involved in its development[WP]." [Wikipedia:Lens_placode, ZFIN:curator] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "lens placodes" RELATED PLURAL [ZFA:0000122] synonym: "placoda lentis" RELATED LATIN [Wikipedia:Lens_placode] xref: AAO:0011055 xref: EFO:0003494 xref: EHDAA2:0000982 xref: EHDAA:2908 xref: EMAPA:16672 xref: FMA:296767 xref: NCIT:C34202 xref: TAO:0000122 xref: UMLS:C1517770 {source="ncithesaurus:Lens_Placodes"} xref: VHOG:0000166 xref: Wikipedia:Lens_placode xref: XAO:0000240 xref: ZFA:0000122 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001048 ! primordium is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000033 ! head relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0000924 ! ectoderm property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/2/2f/Gray864.png xsd:anyURI property_value: external_definition "Ectodermal primordium of the lens of the eye. Kimmel et al, 1995.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000122", ontology="TAO", source="ZFIN:curator"} property_value: homology_notes "(...) an essentially similar sequence of events occurs during the embryonic development of the vertebrate eye. The eye initially develops as a single median evagination of the diencephalon that soon bifurcates to form the paired optic vesicles. As each optic vesicle grows towards the body surface, its proximal part narrows as the optic stalk, and its distal part invaginates to form a two-layered optic cup. (...) The optic cup induces the overlying surface ectoderm first to thicken as a lens placode and then to invaginate and form a lens vesicle that differentiates into the lens.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000166", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.429", source="http://bgee.unil.ch/"} property_value: UBPROP:0000011 "Classical transplantation experiments using amphibian embryos suggested that the optic vesicle is the source of lens-inducing signals sufficient to generate lens tissues in competent ectoderm (reviewed in Grainger et al., 1996). More recent findings suggest a multistep model for lens induction. There is now good evidence that lens specification occurs at the neurula stage, before the optic vesicle contact the surface ectoderm, and that neural crest cell migration in the frontonasal region is required to restrict the position of the lens placode (Bailey et al., 2006)" xsd:string {source="NCBIBook:NBK53175"} [Term] id: UBERON:0003077 name: paraxial mesoderm namespace: uberon def: "The paraxial mesoderm is the mesoderm located bilaterally adjacent to the notochord and neural tube[GO]." [GO:0048339, https://github.com/obophenotype/uberon/issues/30] subset: efo_slim subset: uberon_slim subset: vertebrate_core synonym: "mesoderma paraxiale" RELATED LATIN [Wikipedia:Paraxial_mesoderm] synonym: "paraxial mesenchyme" EXACT [https://github.com/obophenotype/uberon/issues/30, https://github.com/obophenotype/uberon/wiki/The-neural-crest, ZFA:0000255] synonym: "somitic mesoderm" EXACT [ISBN:9780878932504] xref: AAO:0010568 xref: EFO:0003515 xref: EMAPA:16183 xref: EMAPA:16751 xref: FMA:293145 xref: NCIT:C34244 xref: SCTID:361475002 xref: TAO:0000255 xref: UMLS:C1284009 {source="ncithesaurus:Paraxial_Mesoderm"} xref: VHOG:0000114 xref: Wikipedia:Paraxial_mesoderm xref: XAO:0000259 xref: ZFA:0000255 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0002050 ! embryonic structure property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/6/64/Gray19_with_color.png xsd:anyURI property_value: external_definition "Mesoderm lateral to the neural tube and notochord that is divided into cranial and post-cranial portions. The trunk portions further segment into somites.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010568", ontology="AAO", source="AAO:EJS"} property_value: homology_notes "Presently, Cephalochordata, Urochordata, and Vertebrata are placed as subphyla of the phylum Chordata, in which the overall organization of embryonic tissues (dorsal hollow nerve cord, ventral digestive tract, axial notochord, and bilateral paraxial mesoderm) is largely conserved. In contrast, the echinoderms and hemichordates are sister groups of the chordates and they lack the notochord and paraxial mesoderm. Thus, the basic mesodermal organization of vertebrates must have appeared first in the common ancestor of the chordates.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000114", ontology="VHOG", source="DOI:10.1002/dvdy.21177 Kusakabe R and Kuratani S. Evolutionary perspectives from development of mesodermal components in the lamprey. Developmental dynamics (2007)", source="http://bgee.unil.ch/"} property_value: UBPROP:0000012 "note that all AOs differ in the relationship between this structure and the mesoderm; in ZFA it is a subclass (and this is implied by the GO definition and GO relationships), in AAO it is part of, and in EHDAA2 it develops from the mesoderm (but in EHDAA2 the naming convention is to use 'paraxial mesenchyme', rather than 'paraxial mesoderm'). Also in ZFA it is part of the trunk whereas this conflicts with the division into head and trunk in ehdaa2 (which we follow here)" xsd:string {external_ontology="ZFA"} [Term] id: UBERON:0003078 name: epibranchial placode namespace: uberon def: "Focal thickenings of the embryonic ectoderm that form immediately dorsal and caudal of the clefts between the pharyngeal arches and that produce the neuroblasts that migrate and condense to form the distal cranial ganglia." [VHOG:0000117] subset: efo_slim synonym: "epibranchial placodes" EXACT PLURAL [ZFA:0001294] synonym: "ventrolateral placode" RELATED [ISBN:0471888893] xref: AAO:0011036 xref: EFO:0003455 xref: FMA:293968 xref: TAO:0001294 xref: VHOG:0000117 xref: XAO:0000284 xref: ZFA:0001294 is_a: UBERON:0009955 ! neurogenic placode relationship: part_of UBERON:0000010 ! peripheral nervous system relationship: part_of UBERON:0000922 ! embryo property_value: external_definition "Focal thickenings of the embryonic ectoderm that form immediately dorsal and caudal of the clefts between the pharyngeal arches and that produce the neuroblasts that migrate and condense to form the distal cranial ganglia. [Graham_A, The_development_and_evolution_of_the_pharyngeal_arches._J_Anat_(2001)_199:_133-141][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000117", ontology="VHOG", source="http://bgee.unil.ch/"} property_value: homology_notes "These (the epibranchial placodes) are focal thickenings of the embryonic ectoderm that form immediately dorsal and caudal of the clefts between the pharyngeal arches in all vertebrates, and they produce the neuroblasts which migrate and condense to form the distal cranial ganglia: the geniculate, petrosal and nodose ganglia. (...) The one substantial difference between the vertebrate pharyngeal arches and those of the protochordates is the presence of the epibranchial placodes but the evolution of these structures was undoubtedly driven by the endoderm.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000117", ontology="VHOG", source="DOI:10.1046/j.1469-7580.2001.19910133.x Graham A, The development and evolution of the pharyngeal arches. J Anat (2001)", source="http://bgee.unil.ch/"} property_value: UBPROP:0000011 "Epibranchial placodes-derived neurons innervate internal organs to transmit information such as heart rate, blood pressure, and visceral distension from the periphery to the central nervous system (Baker and Bronner-Fraser, 2001). From rostral to caudal the epibranchial placodes comprise the geniculate, petrosal, and nodose placodes, each associated in sequence with the first, second and third branchial clefts. Each placode contributes sensory neurons to cranial nerves VII (facial nerve), IX (glossopharyngeal nerve), and X (vagal nerve), respectively" xsd:string {source="NCBIBook:NBK53175"} property_value: UBPROP:0000012 "in XAO this develops_from dorsolateral placode, but in NBK53175, this is a separate group" xsd:string {external_ontology="XAO"} [Term] id: UBERON:0003079 name: floor plate namespace: uberon def: "The specialized glial structure (non-neuronal cells) situated at the ventral midline of the embryonic neural tube; this structure spans the anteroposterior axis from the midbrain to the tail regions, separating the left and right basal plates of the developing neural tube, and serves as an organizer to ventralize tissues in the embryo as well as to guide neuronal positioning and differentiation along the dorsoventral axis of the neural tube." [GO:0021508, MGI:anna, PMID:15738958, Wikipedia:Floor_plate] comment: "A structure integral to the developing nervous system of vertebrate organisms. Located on the ventral midline of the embryonic neural tube, the floor plate is a specialized glial structure that spans the anteroposterior axis from the midbrain to the tail regions. It has been shown that the floor plate is conserved among vertebrates with homologous structures in invertebrates such as the fruit fly Drosophila and the nematode C. elegans. Functionally, the structure serves as an organizer to ventralize tissues in the embryo as well as to guide neuronal positioning and differentiation along the dorsoventral axis of the neural tube." {source="Wikipedia:Floor_plate"} subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "bodenplatte" RELATED [BTO:0001720] synonym: "floorplate" EXACT [] synonym: "FP" RELATED [TAO:0000022] synonym: "ventral plate" RELATED [BTO:0001720] xref: AAO:0011041 xref: BTO:0001720 xref: EFO:0003473 xref: EMAPA:32684 xref: RETIRED_EHDAA2:0000545 xref: TAO:0000022 xref: Wikipedia:Floor_plate xref: ZFA:0000022 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0002050 ! embryonic structure property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/8/89/Gray642.png xsd:anyURI property_value: external_definition "Organizing center consisting of a small group of cells located at the ventral midline of the neural tube that influences the development of the nervous system, governing the specification of neuronal cell types and directing axonal trajectories.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0011041", ontology="AAO", source="GO:0021508", source="PMID:15738958"} property_value: UBPROP:0000012 "although this is classically defined as being located on the neural tube, in many AOs the floor plate continues post-embryonically after the neural tube has ceased to exist. Consider 'floor plate of neural tube'." xsd:string [Term] id: UBERON:0003083 name: trunk neural crest namespace: uberon def: "Trunk portion of the neural crest. The trunk neural crest lies between the vagal and sacral neural crest and gives rise to two groups of cells. One group migrates dorsolateral and populates the skin, forming pigment cells and the other migrates ventrolateral through the anterior sclerotome to become the epinephrine-producing cells of the adrenal gland and the neurons of the sympathetic nervous system. Some cells remain in the sclerotome to form the dorsal root ganglia [Wikipedia]." [ISBN:0815318960, Wikipedia:Trunk_neural_crest] subset: efo_slim subset: uberon_slim synonym: "TNC" EXACT ABBREVIATION [XAO:0000319] synonym: "trunk crest" RELATED [] xref: AAO:0010582 xref: EFO:0003605 xref: EHDAA2:0001901 xref: TAO:0001024 xref: VHOG:0000062 xref: Wikipedia:Trunk_neural_crest xref: XAO:0000319 xref: ZFA:0001024 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0002050 ! embryonic structure property_value: external_definition "Post-cranial portion of the neural crest. Exact anatomical derivations not experimentally resolved in amphibians.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010582", ontology="AAO", source="AAO:EJS"} property_value: homology_notes "We conclude this section by listing some of the many synapomorphies of craniates, including (1) the neural crest (...).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000062", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.43", source="http://bgee.unil.ch/"} [Term] id: UBERON:0003086 name: caudal artery namespace: uberon def: "Extension of the dorsal aorta in the tail." [Wikipedia:Caudal_artery, ZFIN:curator] subset: efo_slim subset: uberon_slim synonym: "CA" RELATED [] xref: AAO:0011023 xref: EFO:0003472 xref: TAO:0000011 xref: VHOG:0000123 xref: Wikipedia:Caudal_artery xref: XAO:0000364 xref: ZFA:0000011 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001637 ! artery relationship: part_of UBERON:0002100 ! trunk relationship: part_of UBERON:2001073 ! axial vasculature property_value: external_definition "Extension of the dorsal aorta in the tail. Kimmel et al, 1995.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000011", ontology="TAO", source="ZFIN:curator"} property_value: external_definition "The posterior extension of the dorsal aorta to the tail region, which degenerates at metamorphosis.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0011023", ontology="AAO", source="ISBN:0-226-55763-4"} [Term] id: UBERON:0003099 name: cranial neural crest namespace: uberon def: "Neural crest cells (NCCs) originating in the anterior part of the developing embryo and residing between the mid-diencephalon and the forming hindbrain; cranial NCCs migrate dorsolaterally to form the craniofacial mesenchyme that differentiates into various craniofacial cartilages and bones, cranial neurons, glia, and connective tissues of the face; these cells enter the pharyngeal pouches and arches where they give rise to thymic cells, bones of the middle ear and jaw (mandible), and the odontoblasts of the tooth primordia; like their counterparts in the trunk, cranial NCCs also contribute to the developing peripheral nervous system, along with the pigmented cell (i.e. melanocyte) lineage." [MGI:anna] subset: efo_slim subset: uberon_slim subset: vertebrate_core synonym: "cephalic neural crest" EXACT [EMAPA:16091] synonym: "CNC" EXACT ABBREVIATION [XAO:0001001] synonym: "cranial NCC population" EXACT [] synonym: "crista neuralis cranialis" RELATED LATIN [Wikipedia:Cranial_neural_crest] synonym: "head crest" RELATED [] synonym: "head NCC population" EXACT [] synonym: "head neural crest" RELATED [] xref: AAO:0010580 xref: EFO:0003645 xref: EHDAA2:0004420 xref: EMAPA:16091 xref: TAO:0001194 xref: VHOG:0000063 xref: Wikipedia:Cranial_neural_crest xref: XAO:0001001 xref: ZFA:0001194 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0002050 ! embryonic structure property_value: external_definition "Anterior most portion of the neural crest. Migrates in three highly conserved streams: mandibular, hyoid and branchial.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010580", ontology="AAO", source="AAO:EJS"} property_value: external_definition "Neural crest that is part of the head.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0001194", ontology="TAO", source="ZFIN:curator"} property_value: homology_notes "We conclude this section by listing some of the many synapomorphies of craniates, including (1) the neural crest (...).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000063", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.43", source="http://bgee.unil.ch/"} [Term] id: UBERON:0003112 name: olfactory region namespace: uberon def: "Anatomical cluster that is located in the anterior region of the cranium and provides structural support for the olfactory organ." [TAO:0000351] subset: efo_slim synonym: "ethmoid region" RELATED [ZFA:0000351] xref: AAO:0010206 xref: EFO:0003525 xref: NCIT:C98765 xref: TAO:0000351 xref: XAO:0003172 xref: ZFA:0000351 is_a: EFO:0003331 ! zebrafish component property_value: external_definition "Anatomical cluster that is located in the anterior region of the cranium and provides structural support for the peripheral olfactory organ.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000351", ontology="TAO", source="TAO:MAH"} property_value: external_definition "Anatomical cluster that is located in the anterior region of the neurocranium and provides structural support for the olfactory organs.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010206", ontology="AAO", source="AAO:EJS"} [Term] id: UBERON:0003118 name: pharyngeal arch artery 1 namespace: uberon alt_id: UBERON:0004371 def: "The vessels formed within the first pair of branchial arches in embryogenesis." [MP:0010355] subset: pheno_slim subset: vertebrate_core synonym: "1st aortic arch artery" RELATED [EMAPA:16685] synonym: "1st arch artery" EXACT [EMAPA:16685] synonym: "1st branchial arch artery" RELATED [EMAPA:16685] synonym: "1st pharyngeal arch artery" RELATED [EMAPA:16685] synonym: "AA1" EXACT [ZFA:0005005] synonym: "aortic arch 1" EXACT [ZFA:0005005] synonym: "first aortic arch" EXACT [XAO:0000342] synonym: "first arch artery" RELATED [EMAPA:16685] synonym: "first branchial arch artery" EXACT [] synonym: "mandibular aortic arch" EXACT [ZFA:0005005] xref: AAO:0010415 xref: EHDAA2:0000007 xref: EMAPA:16202 xref: EMAPA:16685 xref: SCTID:308774003 xref: TAO:0005005 xref: VHOG:0000149 xref: XAO:0000342 xref: ZFA:0005005 is_a: UBERON:0004363 ! pharyngeal arch artery property_value: taxon_notes "Disappears early in development in tetrapods" xsd:string property_value: UBPROP:0000012 "ZFA states that The paired aortic arch 1 arteries branch off of the ventral aorta, and empty into the right and left lateral dorsal aortas" xsd:string {external_ontology="ZFA"} [Term] id: UBERON:0003119 name: pharyngeal arch artery 2 namespace: uberon alt_id: UBERON:0004372 def: "The vessels formed within the second pair of branchial arches in embryogenesis." [MP:0010356] subset: pheno_slim subset: vertebrate_core synonym: "2nd aortic arch artery" RELATED [EMAPA:16686] synonym: "2nd arch artery" EXACT [EHDAA2:0000051] synonym: "2nd branchial arch artery" RELATED [EMAPA:16686] synonym: "2nd pharyngeal arch artery" RELATED [EMAPA:16686] synonym: "AA2" EXACT [ZFA:0005006] synonym: "aortic arch 2" EXACT [ZFA:0005006] synonym: "hyoid aortic arch" EXACT [ZFA:0005006] synonym: "second aortic arch" EXACT [XAO:0000343] synonym: "second branchial arch artery" EXACT [] xref: AAO:0010418 xref: EHDAA2:0000051 xref: EMAPA:16203 xref: EMAPA:16686 xref: SCTID:308775002 xref: TAO:0005006 xref: VHOG:0000148 xref: Wikipedia:Aortic_arches#Arches_1_and_2 xref: XAO:0000343 xref: ZFA:0005006 is_a: UBERON:0004363 ! pharyngeal arch artery property_value: external_definition "The first and second arches disappear early, but the dorsal end of the second gives origin to the stapedial artery, a vessel which atrophies in humans but persists in some mammals. It passes through the ring of the stapes and divides into supraorbital, infraorbital, and mandibular branches which follow the three divisions of the trigeminal nerve. The infraorbital and mandibular arise from a common stem, the terminal part of which anastomoses with the external carotid. On the obliteration of the stapedial artery this anastomosis enlarges and forms the internal maxillary artery, and the branches of the stapedial artery are now branches of this vessel. The common stem of the infraorbital and mandibular branches passes between the two roots of the auriculotemporal nerve and becomes the middle meningeal artery; the original supraorbital branch of the stapedial is represented by the orbital twigs of the middle meningeal[WP][Wikipedia:Aortic_arches#Arches_1_and_2]." xsd:string {source="Wikipedia:Aortic_arches#Arches_1_and_2"} property_value: external_definition "The second in a series paired arterial connections between the dorsal and ventral aortae. Aortic arch 2 that is part of hyoid arch.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010418", ontology="AAO", source="ISBN:0-02-377110-0"} [Term] id: UBERON:0003120 name: pharyngeal arch artery 3 namespace: uberon alt_id: UBERON:0004352 def: "The vessels formed within the third pair of branchial arches in embryogenesis." [MP:0006356] subset: pheno_slim subset: vertebrate_core synonym: "3rd aortic arch artery" RELATED [EMAPA:16687] synonym: "3rd arch artery" EXACT [EHDAA2:0000070] synonym: "3rd branchial arch artery" RELATED [EMAPA:16687] synonym: "3rd pharyngeal arch artery" RELATED [EMAPA:16687] synonym: "AA3" EXACT [ZFA:0005007] synonym: "aortic arch 3" EXACT [ZFA:0005007] synonym: "carotid arch" EXACT [Wikipedia:Aortic_arches#Arch_3] synonym: "third aortic arch" EXACT [XAO:0000344] synonym: "third branchial arch artery" EXACT [] xref: AAO:0010419 xref: EHDAA2:0000070 xref: EMAPA:16687 xref: SCTID:308776001 xref: TAO:0005007 xref: VHOG:0000147 xref: Wikipedia:Aortic_arches#Arch_3 xref: XAO:0000344 xref: ZFA:0005007 is_a: UBERON:0004363 ! pharyngeal arch artery property_value: external_definition "Aortic arches 3 and 4 are not remodeled but are retained largely intact as the branchial arteries providing circulation through the gills. These areches are direct branches from the ventral aorta to the lateral dorsal aorta. Isogai et al. 2001.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0005007", ontology="TAO", source="ZFIN:curator"} property_value: external_definition "The third aortic arch constitutes the commencement of the internal carotid artery, and is therefore named the carotid arch[WP][Wikipedia:Aortic_arches#Arch_3]." xsd:string {source="Wikipedia:Aortic_arches#Arch_3"} property_value: external_definition "The third in a series paired arterial connections between the dorsal and ventral aortae. Aortic arch 3 lies within the 3rd branchial arch and branches directly from the ventral aorta to the lateral dorsal aorta, and are retained as the branchial arteries providing circulation through the gills in the adult.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010419", ontology="AAO", source="ISBN:0-02-377110-0"} [Term] id: UBERON:0003121 name: pharyngeal arch artery 4 namespace: uberon alt_id: UBERON:0004350 def: "The vessels formed within the fourth pair of branchial arches in embryogenesis." [MP:0006354] comment: proximal right subclavian subset: pheno_slim subset: vertebrate_core synonym: "4th aortic arch artery" RELATED [EMAPA:17004] synonym: "4th arch artery" EXACT [EHDAA2:0000087] synonym: "4th branchial arch artery" RELATED [EMAPA:17004] synonym: "4th pharyngeal arch artery" RELATED [EMAPA:17004] synonym: "AA4" EXACT [ZFA:0005008] synonym: "aortic arch 4" EXACT [ZFA:0005008] synonym: "fourth aortic arch" EXACT [XAO:0000355] synonym: "fourth branchial arch artery" EXACT [] synonym: "systemic arch" RELATED [ISBN:0073040584, XAO:0000355] xref: AAO:0010420 xref: EHDAA2:0000087 xref: EMAPA:17004 xref: SCTID:308777005 xref: TAO:0005008 xref: Wikipedia:Aortic_arches#Arch_4 xref: XAO:0000355 xref: ZFA:0005008 is_a: UBERON:0004363 ! pharyngeal arch artery property_value: external_definition "Aortic arches 3 and 4 are not remodeled but are retained largely intact as the branchial arteries providing circulation through the gills. These areches are direct branches from the ventral aorta to the lateral dorsal aorta. Isogai et al. 2001.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0005008", ontology="TAO", source="ZFIN:curator"} property_value: external_definition "The forth in a series paired arterial connections between the dorsal and ventral aortae, lies within the 4th branchial arch. The paired aortic arch 4 arteries branch directly from the ventral aorta to the lateral dorsal aorta, and are retained as the branchial arteries providing circulation through the gills in the adult.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010420", ontology="AAO", source="ISBN:0-02-377110-0"} property_value: external_definition "The fourth right arch forms the right subclavian as far as the origin of its internal mammary branch; while the fourth left arch constitutes the arch of the aorta between the origin of the left carotid artery and the termination of the ductus arteriosus[WP][Wikipedia:Aortic_arches#Arch_4]." xsd:string {source="Wikipedia:Aortic_arches#Arch_4"} property_value: UBPROP:0000011 "Normally, the left fourth arch becomes the aortic arch, the right fourth arch contributes to the innominate artery[http://emedicine.medscape.com/article/899609-overview] in birds it is the right fourth arch which forms the permanent aorta" xsd:string [Term] id: UBERON:0003122 name: pharyngeal arch artery 5 namespace: uberon def: "The vessels formed within the fifth pair of pharyngeal arches in embryogenesis." [http://orcid.org/0000-0002-6601-2165] subset: vertebrate_core synonym: "AA5" EXACT [ZFA:0005009] synonym: "aortic arch 5" EXACT [ZFA:0005009] synonym: "fifth aortic arch" EXACT [XAO:0000352] xref: AAO:0010421 xref: SCTID:308778000 xref: TAO:0005009 xref: VHOG:0000145 xref: Wikipedia:Aortic_arches#Arch_5 xref: XAO:0000352 xref: ZFA:0005009 is_a: UBERON:0004363 ! pharyngeal arch artery property_value: external_definition "The fifth and sixth arches, which come on-line at approximately 2.5 dpf, have a common trunk from the ventral aorta and drain to the midline dorsal aorta via an independent route. The fifth and sixth aortic arches supply the trunk and tail with oxigenated blood. Isogai et al. 2001.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0005009", ontology="TAO", source="ZFIN:curator"} property_value: external_definition "The fifth arch disappears on both sides[WP][Wikipedia:Aortic_arches#Arch_5]." xsd:string {source="Wikipedia:Aortic_arches#Arch_5"} property_value: external_definition "The fifth in a series paired arterial connections between the dorsal and ventral aortae. Aortic arch 5 artery is paired and has a common trunk with aortic arch 6 from the ventral aorta, and drains via a separate branch of the lateral dorsal aorta. Aortic arches 5 and 6 supply the trunk and tail with oxygenated blood.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010421", ontology="AAO", source="ISBN:0-02-377110-0"} property_value: taxon_notes "In humans the 5th arch disappears on both sides" xsd:string [Term] id: UBERON:0003123 name: pharyngeal arch artery 6 namespace: uberon alt_id: UBERON:0004351 def: "The vessels formed within the sixth pair of branchial arches in embryogenesis." [MP:0006355] subset: pheno_slim subset: vertebrate_core synonym: "6th aortic arch artery" RELATED [EMAPA:17005] synonym: "6th arch artery" EXACT [EMAPA:17005] synonym: "6th branchial arch artery" RELATED [EMAPA:17005] synonym: "6th pharyngeal arch artery" RELATED [EMAPA:17005] synonym: "AA6" EXACT [ZFA:0005016] synonym: "aortic arch 6" EXACT [ZFA:0005016] synonym: "pulmonary arch" RELATED [ISBN:0073040584] synonym: "sixth aortic arch" EXACT [XAO:0000353] synonym: "sixth branchial arch artery" EXACT [] xref: AAO:0010422 xref: EHDAA2:0000102 xref: EMAPA:17005 xref: SCTID:308779008 xref: TAO:0005016 xref: VHOG:0000144 xref: Wikipedia:Aortic_arches#Arch_6 xref: XAO:0000353 xref: ZFA:0005016 is_a: UBERON:0004363 ! pharyngeal arch artery property_value: external_definition "The fifth and sixth arches, which come on-line at approximately 2.5 dpf, have a common trunk from the ventral aorta and drain to the midline dorsal aorta via an independent route. The fifth and sixth aortic arches supply the trunk and tail with oxigenated blood. Isogai et al. 2001.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0005016", ontology="TAO", source="ZFIN:curator"} property_value: external_definition "The sixth in a series paired arterial connections between the dorsal and ventral aortae. Aortic arch 6 artery is paired and has a common trunk with aortic arch 5 from the ventral aorta, and drains via a separate branch of the lateral dorsal aorta. It forms part of the pulmonary arteries, and in the later embryo, the ductus arteriosis. Aortic arches 5 and 6 together supply the trunk and tail with oxygenated blood.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010422", ontology="AAO", source="ISBN:0-02-377110-0"} property_value: external_definition "The sixth right arch disappears; the sixth left arch gives off the pulmonary arteries and forms the ductus arteriosus; this duct remains pervious during the whole of fetal life, but then closes within the first few days after birth due to increased O2 concentration. Oxygen concentration causes the production of bradykinin which causes the ductus to constrict occluding all flow. Within 1-3 months, the ductus is obliterated and becomes the ligamentum arteriosus. His showed that in the early embryo the right and left arches each gives a branch to the lungs, but that later both pulmonary arteries take origin from the left arch[WP][Wikipedia:Aortic_arches#Arch_6]." xsd:string {source="Wikipedia:Aortic_arches#Arch_6"} property_value: UBPROP:0000011 "the distal left sixth arch becomes the ductus arteriosus, the proximal sixth arches bilaterally contribute to the proximal branch pulmonary arteries" xsd:string {source="http://emedicine.medscape.com/article/899609-overview"} [Term] id: UBERON:0003124 name: chorion membrane namespace: uberon def: "The outermost extraembryonic membrane of amniotes." [http://orcid.org/0000-0002-6601-2165, https://github.com/geneontology/go-ontology/issues/22603, MESH:A10.615.284.473, MP:0002836] comment: This term refers to the amniote structure. It is distinct from the concept of chorion in insects subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "chorion" EXACT [] synonym: "chorion (vertebrates)" EXACT [] synonym: "chorion frondosum" RELATED [Wikipedia:Chorion] synonym: "chorionic sac" RELATED [Wikipedia:Chorion] synonym: "embryonic chorion" EXACT [] synonym: "fetal chorion" EXACT [] synonym: "uterine chorion" EXACT [http://orcid.org/0000-0002-6601-2165, ZFIN:curator] xref: BTO:0000252 xref: CALOHA:TS-0144 xref: EFO:0002780 xref: EHDAA2:0000245 xref: EHDAA:150 xref: EMAPA:16112 xref: EV:0100121 xref: FMA:80224 xref: GAID:1299 xref: MESH:D002823 xref: NCIT:C34122 xref: NCIT:C34124 xref: UMLS:C0008503 {source="ncithesaurus:Chorion"} xref: UMLS:C1516505 {source="ncithesaurus:Chorionic_Sac"} xref: VHOG:0000200 xref: Wikipedia:Chorion is_a: UBERON:0000061 ! anatomical structure property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/5/51/Gray24.png xsd:anyURI property_value: external_definition "The outer membrane enclosing the embryo in reptiles, birds, and mammals. [TFD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000200", ontology="VHOG", source="http://bgee.unil.ch/", source="http://medical-dictionary.thefreedictionary.com/chorion"} property_value: external_definition "The outer membrane of the two membranes enclosing the embryo in reptiles, birds, and mammals. In placental mammals it contributes to the development of the placenta[BTO:0000252]." xsd:string {source="BTO:0000252"} property_value: has_relational_adjective "chorionic" xsd:string property_value: homology_notes "Structures homologous to the four extraembryonic membranes of reptiles and birds appear in mammals: amnion, chorion, yolk sac, and allantois.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000200", ontology="VHOG", source="ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.187", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "The chorion of placentals is bilaminar as in reptiles and birds, but forms from the trophoblast and includes the ajdacent mesodermal layer [ISBN:0073040584]" xsd:string property_value: UBPROP:0000011 "Extra-embryonic ectoderm" xsd:string {source="PMID:19829370"} [Term] id: UBERON:0003126 name: trachea namespace: uberon def: "The trachea is the portion of the airway that attaches to the bronchi as it branches [GO:dph]." [GO:0060438, Wikipedia:Vertebrate_trachea] subset: efo_slim subset: human_reference_atlas subset: major_organ subset: pheno_slim subset: uberon_slim synonym: "cartilaginous trachea" EXACT [] synonym: "tracheal tubule" RELATED [BTO:0001388] synonym: "vertebrate trachea" EXACT SENSU [] synonym: "windpipe" EXACT [] xref: AAO:0010140 xref: BTO:0001388 xref: CALOHA:TS-1060 xref: EFO:0000935 xref: EHDAA2:0002066 xref: EHDAA:3078 xref: EMAPA:16853 xref: EV:0100040 xref: FMA:7394 xref: GAID:361 xref: MA:0000441 xref: MAT:0000137 xref: MESH:D014132 xref: MIAA:0000137 xref: NCIT:C12428 xref: SCTID:181213009 xref: UMLS:C0040578 {source="ncithesaurus:Trachea"} xref: VHOG:0000371 xref: Wikipedia:Vertebrate_trachea xref: XAO:0000118 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000065 ! respiratory tract property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/9/9f/Illu_conducting_passages.svg xsd:anyURI property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/c/c3/Illu_conducting_passages.jpg xsd:anyURI property_value: external_definition "An elongated tube which carries air to and from the lungs.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010140", ontology="AAO", source="AAO:BJB"} property_value: external_definition "The respiratory tube between the larynx and the bronchi. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-29, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000371", ontology="VHOG", source="http://bgee.unil.ch/"} property_value: has_relational_adjective "tracheal" xsd:string property_value: homology_notes "In primitive fishes and most tetrapods, the lungs of adults are usually paired. They lie ventral to the digestive tract and are connected to the outside environment through the trachea.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000371", ontology="VHOG", source="ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.409", source="http://bgee.unil.ch/"} property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "In birds, the trachea runs from the pharynx to the syrinx, from which the primary bronchi diverge. Swans have an unusually elongated trachea, part of which is coiled beneath the sternum; this may act as a resonator to amplify sound. In some birds, the cartilagenous rings are complete, and may even be ossified. In amphibians, the trachea is normally extremely short, and leads directly into the lungs, without clear primary bronchi. A longer trachea is, however found in some long-necked salamanders, and in caecilians. While there are irregular cartilagenous nodules on the amphibian trachea, these do not form the rings found in amniotes. The only vertebrate to have lungs, but no trachea, is Polypterus, in which the lungs arise directly from the pharynx." xsd:string property_value: taxon_notes "in mouse 15-18 C-rings, 15-20 in human." xsd:string {source="ISBN:0123813611"} [Term] id: UBERON:0003128 name: cranium namespace: uberon def: "Upper portion of the skull that excludes the mandible (when present in the organism)." [http://orcid.org/0000-0002-6601-2165, Wikipedia:Cranium_(anatomy)] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "bones of cranium" EXACT [FMA:71325] synonym: "calvarium" RELATED [BTO:0001328] synonym: "epicranial plate" RELATED [] synonym: "ossa cranii" EXACT LATIN [FMA:71325, FMA:TA] synonym: "set of bones of cranium" EXACT [FMA:71325] synonym: "skeletal system of head" RELATED [] synonym: "skull minus mandible" EXACT [] synonym: "upper part of skull" EXACT [] xref: BTO:0001328 xref: EFO:0000831 xref: EHDAA:6029 xref: EMAPA:17680 xref: FMA:71325 xref: MA:0000316 xref: MAT:0000340 xref: MIAA:0000340 xref: SCTID:181889008 xref: VHOG:0000334 xref: Wikipedia:Cranium_(anatomy) is_a: EFO:0003858 ! skeleton structure relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001434 ! skeletal system property_value: has_relational_adjective "cranial" xsd:string property_value: RO:0002171 UBERON:0003278 property_value: UBPROP:0000012 "the inclusion of the FMA class here is probably not quite correct, as this class includes as parts sutures, whereas this is not part of the bones of the cranium" xsd:string {external_ontology="FMA"} property_value: UBPROP:0000013 "The term cranium can be ambiguous, in that it can refer to the neurocranium, or the neurocranium and the Facial skeleton" xsd:string {source="WP"} [Term] id: UBERON:0003143 name: pupa namespace: uberon def: "An organism at the pupal stage. A life cycle stage of holometabolous insects in which the organism is a pupa and starts with the larval-pupal apolysis and ends with pupal-adult apolysis." [https://github.com/obophenotype/uberon/issues/562, Wikipedia:Pupa] subset: efo_slim synonym: "aurelia" NARROW [NCBITaxon:37572, Wikipedia:Pupa] synonym: "chrysalides" NARROW PLURAL [NCBITaxon:37572, Wikipedia:Pupa] synonym: "chrysalis" NARROW [NCBITaxon:37572, Wikipedia:Pupa] synonym: "pupae" RELATED PLURAL [] xref: BTO:0001143 xref: EFO:0002684 xref: FBbt:00002953 xref: HAO:0000886 xref: MESH:D011679 xref: Wikipedia:Pupa is_a: UBERON:0000468 ! multicellular organism property_value: has_relational_adjective "pupal" xsd:string property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/ANiknejad property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/cmungall property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/dosumis property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/fbastian property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/mmc46 [Term] id: UBERON:0003153 name: insect head capsule namespace: uberon def: "The fused, compact cephalic plates that comprise the head, excluding the eyes, antennae and mouthparts." [FBbt:00004482] subset: efo_slim xref: BTO:0004711 xref: EFO:0001927 xref: FBbt:00004482 xref: HAO:0000398 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000033 ! head relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0002416 ! integumental system [Term] id: UBERON:0003215 name: alveolus namespace: uberon def: "Organ part that has the form of a hollow cavity[WP]." [Wikipedia:Alveolus] subset: efo_slim xref: EFO:0002513 xref: EV:0100043 xref: FMA:82493 xref: NCIT:C12986 xref: UMLS:C0034051 {source="ncithesaurus:Alveolus"} xref: Wikipedia:Alveolus is_a: EFO:0001646 ! anatomical modifier is_a: UBERON:0000061 ! anatomical structure property_value: has_relational_adjective "alveolar" xsd:string [Term] id: UBERON:0003306 name: floor plate of neural tube namespace: uberon def: "A floor plate that is part of a neural tube [Automatically generated definition]." [OBOL:automatic] subset: efo_slim subset: vertebrate_core synonym: "floor plate neural tube" EXACT [ZFA:0001434] synonym: "floorplate neural tube" RELATED [VHOG:0000300] synonym: "floorplate of neural tube" EXACT [OBOL:automatic] synonym: "neural tube floor plate" EXACT [OBOL:automatic] synonym: "neural tube floorplate" EXACT [OBOL:automatic] xref: EFO:0003688 xref: EHDAA2:0001256 xref: EHDAA:2871 xref: EHDAA:910 xref: EMAPA:16165 xref: TAO:0001434 xref: VHOG:0000300 xref: ZFA:0001434 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0003079 ! floor plate property_value: homology_notes "In summary, the available data for tunicates, amphioxus, and vertebrates indicate that a floorplate-like structure was already present in the proximate invertebrate ancestor of the vertebrates and that the genetic mechanisms for DV patterning of the nerve cord were also largely in place.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000300", ontology="VHOG", source="DOI:10.1016/S0959-4388(99)00003-3 Holland LZ and Holland ND, Chordate origins of the vertebrate central nervous system. Current Opinion in Neurobiology (1999)", source="http://bgee.unil.ch/"} property_value: UBPROP:0000012 "although 'floor plate' is classically defined as being located on the neural tube, in many AOs the floor plate continues post-embryonically after the neural tube has ceased to exist. We introduce this class for the neural tube specific structure" xsd:string [Term] id: UBERON:0003307 name: floor plate of midbrain namespace: uberon def: "A floor plate that is part of a midbrain [Automatically generated definition]." [OBOL:automatic] subset: efo_slim subset: vertebrate_core synonym: "floor plate mesencephalon" RELATED [VHOG:0000780] synonym: "floor plate midbrain" EXACT [VHOG:0000780] synonym: "floor plate midbrain region" EXACT [ZFA:0001677] synonym: "floorplate midbrain" RELATED [VHOG:0000780] synonym: "floorplate of midbrain" EXACT [OBOL:automatic] synonym: "midbrain floor plate" EXACT [OBOL:automatic] synonym: "midbrain floorplate" EXACT [OBOL:automatic] xref: DHBA:12325 xref: EHDAA2:0001164 xref: EHDAA:3698 xref: EMAPA:16975 xref: RETIRED_EHDAA2:0001106 xref: TAO:0002196 xref: VHOG:0000780 xref: ZFA:0001677 is_a: UBERON:0003306 ! floor plate of neural tube relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0001891 ! midbrain relationship: part_of UBERON:0003079 ! floor plate property_value: axiom_lost_from_external_ontology "relationship type change: subclass multi-tissue structure (CARO:0000055) CHANGED TO: develops_from multi-tissue structure (UBERON:0000481)[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0002196", ontology="TAO"} property_value: axiom_lost_from_external_ontology "relationship type change: subclass multi-tissue structure (CARO:0000055) CHANGED TO: part_of multi-tissue structure (UBERON:0000481)[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0002196", ontology="TAO"} property_value: external_definition "Floor plate that is part of the midbrain.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0002196", ontology="TAO", source="ZFIN:curator"} property_value: homology_notes "In summary, the available data for tunicates, amphioxus, and vertebrates indicate that a floorplate-like structure was already present in the proximate invertebrate ancestor of the vertebrates and that the genetic mechanisms for DV patterning of the nerve cord were also largely in place.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000780", ontology="VHOG", source="DOI:10.1016/S0959-4388(99)00003-3 Holland LZ and Holland ND, Chordate origins of the vertebrate central nervous system. Current Opinion in Neurobiology (1999)", source="http://bgee.unil.ch/"} [Term] id: UBERON:0003454 name: small intestine Peyer's patch namespace: uberon def: "Nodular lymphoid structures on the serosal surface of the small intestine." [http://orcid.org/0000-0002-6601-2165] synonym: "aggregated lymphoid follicle of small intestine" EXACT [FMA:15054] synonym: "noduli lymphoidei aggregati intestini tenuis" EXACT LATIN [FMA:76466] synonym: "Peyer's patch" BROAD [FMA:15054] synonym: "Peyer's patch of small bowel" EXACT [OBOL:automatic] synonym: "Peyer's patch of small intestine" EXACT [OBOL:automatic] synonym: "small bowel Peyer's patch" EXACT [OBOL:automatic] synonym: "small intestine Peyer's patch" EXACT [OBOL:automatic] xref: EMAPA:35782 xref: FMA:15054 xref: MA:0001557 xref: SCTID:38986009 is_a: UBERON:0001211 ! Peyer's patch intersection_of: UBERON:0001211 ! Peyer's patch intersection_of: part_of UBERON:0002108 ! small intestine relationship: part_of UBERON:0002108 ! small intestine relationship: UBPROP:0000202 FMA:76466 ! fma_set_term property_value: IAO:0000116 "add subtypes for jejunum, ileum" xsd:string [Term] id: UBERON:0003456 name: respiratory system lymphatic vessel namespace: uberon def: "A lymphatic vessel that is part of a respiratory system [Automatically generated definition]." [OBOL:automatic] synonym: "apparatus respiratorius lymph vessel" EXACT [OBOL:automatic] synonym: "apparatus respiratorius lymphatic vessel" EXACT [OBOL:automatic] synonym: "lymph vessel of apparatus respiratorius" EXACT [OBOL:automatic] synonym: "lymph vessel of respiratory system" EXACT [OBOL:automatic] synonym: "lymphatic vessel of apparatus respiratorius" EXACT [OBOL:automatic] synonym: "lymphatic vessel of respiratory system" EXACT [OBOL:automatic] synonym: "respiratory system lymph vessel" EXACT [OBOL:automatic] xref: EMAPA:37580 {source="MA:th"} xref: MA:0001824 is_a: UBERON:0001473 ! lymphatic vessel intersection_of: UBERON:0001473 ! lymphatic vessel intersection_of: part_of UBERON:0001004 ! respiratory system relationship: part_of UBERON:0000065 ! respiratory tract relationship: part_of UBERON:0001004 ! respiratory system [Term] id: UBERON:0003464 name: hindlimb bone namespace: uberon def: "A bone that is part of a hindlimb region. Examples: any pes phalanx, femur. Counter-examples: ischium, pubis (they are part of the pelvic girdle)." [https://orcid.org/0000-0002-6601-2165] subset: efo_slim synonym: "bone of hind limb" EXACT [OBOL:automatic] synonym: "bone of hindlimb" EXACT [OBOL:automatic] synonym: "bone of inferior member" EXACT [OBOL:automatic] synonym: "bone of lower extremity" EXACT [OBOL:automatic] synonym: "bone organ of hind limb" EXACT [OBOL:automatic] synonym: "bone organ of hindlimb" EXACT [OBOL:automatic] synonym: "bone organ of lower extremity" EXACT [OBOL:automatic] synonym: "hind limb bone" EXACT [OBOL:automatic] synonym: "hind limb bone organ" EXACT [OBOL:automatic] synonym: "hindlimb bone organ" EXACT [OBOL:automatic] xref: EFO:0003842 xref: GAID:198 xref: NCIT:C12982 xref: SCTID:361370006 xref: UMLS:C0448188 {source="ncithesaurus:Bone_of_the_Lower_Extremity"} is_a: UBERON:0002428 ! limb bone intersection_of: UBERON:0001474 ! bone element intersection_of: part_of UBERON:0002103 ! hindlimb relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001434 ! skeletal system relationship: part_of UBERON:0002091 ! appendicular skeleton relationship: part_of UBERON:0002101 ! limb relationship: part_of UBERON:0002103 ! hindlimb property_value: UBPROP:0000012 "the MA class is actually bone of pelvic complex; in contrast the NCIT class excludes ilium etc" xsd:string {external_ontology="MA"} [Term] id: UBERON:0003469 name: respiratory system artery namespace: uberon def: "An artery that is part of a respiratory system [Automatically generated definition]." [OBOL:automatic] xref: EMAPA:37569 {source="MA:th"} xref: MA:0001804 is_a: UBERON:0001637 ! artery is_a: UBERON:0003504 ! respiratory system blood vessel intersection_of: UBERON:0001637 ! artery intersection_of: part_of UBERON:0001004 ! respiratory system relationship: part_of UBERON:0001004 ! respiratory system relationship: part_of UBERON:0003504 ! respiratory system blood vessel [Term] id: UBERON:0003476 name: respiratory system venous blood vessel namespace: uberon def: "A vein that is part of a respiratory system [Automatically generated definition]." [OBOL:automatic] synonym: "apparatus respiratorius vein" EXACT [OBOL:automatic] synonym: "respiratory system vein" EXACT [OBOL:automatic] synonym: "vein of apparatus respiratorius" EXACT [OBOL:automatic] synonym: "vein of respiratory system" EXACT [OBOL:automatic] xref: EMAPA:37584 {source="MA:th"} xref: MA:0001809 xref: MA:0001810 is_a: UBERON:0001638 ! vein is_a: UBERON:0003504 ! respiratory system blood vessel relationship: part_of UBERON:0003504 ! respiratory system blood vessel [Term] id: UBERON:0003499 name: brain blood vessel namespace: uberon def: "A blood vessel that is part of a brain [Automatically generated definition]." [OBOL:automatic] subset: pheno_slim synonym: "blood vessel of brain" EXACT [OBOL:automatic] xref: EMAPA:35182 xref: MA:0002769 is_a: UBERON:0001981 ! blood vessel intersection_of: UBERON:0001981 ! blood vessel intersection_of: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0008998 ! vasculature of brain [Term] id: UBERON:0003504 name: respiratory system blood vessel namespace: uberon def: "A blood vessel that is part of a respiratory system [Automatically generated definition]." [OBOL:automatic] synonym: "apparatus respiratorius blood vessel" EXACT [OBOL:automatic] synonym: "blood vessel of apparatus respiratorius" EXACT [OBOL:automatic] synonym: "blood vessel of respiratory system" EXACT [OBOL:automatic] xref: EMAPA:35731 xref: EMAPA:35995 xref: MA:0001799 is_a: UBERON:0001981 ! blood vessel intersection_of: UBERON:0001981 ! blood vessel intersection_of: part_of UBERON:0001004 ! respiratory system relationship: part_of UBERON:0000065 ! respiratory tract relationship: part_of UBERON:0001004 ! respiratory system [Term] id: UBERON:0003505 name: trachea blood vessel namespace: uberon alt_id: UBERON:0003525 def: "A blood vessel that is part of a trachea." [OBOL:automatic] synonym: "blood vessel of trachea" EXACT [OBOL:automatic] xref: EMAPA:35874 xref: MA:0001852 is_a: UBERON:0003504 ! respiratory system blood vessel intersection_of: UBERON:0001981 ! blood vessel intersection_of: part_of UBERON:0003126 ! trachea relationship: part_of UBERON:0003126 ! trachea [Term] id: UBERON:0003512 name: lung blood vessel namespace: uberon def: "A blood vessel that is part of a lung [Automatically generated definition]." [OBOL:automatic] subset: pheno_slim synonym: "blood vessel of lung" EXACT [OBOL:automatic] synonym: "pulmonary vascular element" RELATED [EMAPA:32867] xref: EMAPA:32867 xref: MA:0002457 is_a: EFO:0001986 ! lung structure is_a: UBERON:0003504 ! respiratory system blood vessel intersection_of: UBERON:0001981 ! blood vessel intersection_of: part_of UBERON:0002048 ! lung relationship: part_of UBERON:0000915 ! thoracic segment of trunk relationship: part_of UBERON:0002048 ! lung relationship: part_of UBERON:0002100 ! trunk [Term] id: UBERON:0003663 name: hindlimb muscle namespace: uberon def: "Any muscle organ that is part of a hindlimb [Automatically generated definition]." [OBOL:automatic] subset: efo_slim synonym: "free lower limb muscle" EXACT [FMA:37368] synonym: "hind limb muscle organ" EXACT [OBOL:automatic] synonym: "hindlimb muscle organ" EXACT [OBOL:automatic] synonym: "inferior member muscle organ" EXACT [OBOL:automatic] synonym: "lower extremity muscle organ" EXACT [OBOL:automatic] synonym: "lower limb skeletal muscle" EXACT [http://orcid.org/0000-0002-6601-2165] synonym: "muscle of free lower limb" EXACT [FMA:37368] synonym: "muscle of posterior limb" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "muscle organ of hind limb" EXACT [OBOL:automatic] synonym: "muscle organ of hindlimb" EXACT [OBOL:automatic] synonym: "muscle organ of inferior member" EXACT [OBOL:automatic] synonym: "muscle organ of lower extremity" EXACT [OBOL:automatic] xref: AAO:0000222 xref: EFO:0001928 xref: FMA:37368 is_a: UBERON:0014892 ! skeletal muscle organ intersection_of: UBERON:0014892 ! skeletal muscle organ intersection_of: part_of UBERON:0002103 ! hindlimb relationship: part_of UBERON:0002101 ! limb relationship: part_of UBERON:0002103 ! hindlimb [Term] id: UBERON:0003679 name: mouth floor namespace: uberon def: "The ventral area of the mouth. In organisms with a tongue, this is the area under the ventral surface of the tongue[ncit, modified]." [http://orcid.org/0000-0002-6601-2165, ncithesaurus:Floor_of_the_Mouth] subset: efo_slim subset: pheno_slim synonym: "floor of mouth" EXACT [FMA:86592] synonym: "floor of oval cavity" EXACT [] synonym: "floor of the oval cavity" EXACT [] synonym: "sublingual region" NARROW [GAID:1283] xref: CALOHA:TS-2207 xref: EFO:0001923 xref: EMAPA:37911 {source="MA:th"} xref: FMA:86592 xref: GAID:1283 xref: MESH:D009060 xref: NCIT:C54187 xref: SCTID:245786002 xref: UMLS:C0026638 {source="ncithesaurus:Floor_of_the_Mouth"} is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000033 ! head relationship: part_of UBERON:0000165 ! mouth relationship: part_of UBERON:0000468 ! multicellular organism property_value: IAO:0000116 "reclassify after CARO2 overhaul" xsd:string [Term] id: UBERON:0003684 name: abdominal cavity namespace: uberon def: "The part of the ventral body cavity that is within the abdomen proper (excluding the pelvic cavity)." [UBERON:cjm] subset: efo_slim synonym: "cavitas abdominis" RELATED LATIN [GAID:17, Wikipedia:Abdominal_cavity] synonym: "cavity of abdominal compartment" EXACT [FMA:12266] synonym: "cavity of compartment of abdomen" EXACT [FMA:12266] synonym: "space of abdominal compartment" EXACT [FMA:12266] xref: EFO:0000213 xref: EMAPA:36505 xref: FMA:12266 xref: GAID:17 xref: galen:AbdominalCavity xref: MA:0003057 xref: MESH:D034841 xref: NCIT:C12664 xref: SCTID:361294009 xref: UMLS:C0230168 {source="ncithesaurus:Abdominal_Cavity"} xref: Wikipedia:Abdominal_cavity is_a: UBERON:0001062 ! anatomical entity relationship: part_of UBERON:0000916 ! abdomen property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/e/ee/Scheme_body_cavities-en.svg xsd:anyURI property_value: UBPROP:0000012 "in FMA this contains the pelvic cavity, but this is inconsistent with the concept of abdominopelvic cavity" xsd:string {external_ontology="FMA"} [Term] id: UBERON:0003688 name: omentum namespace: uberon def: "A fold of peritoneum originating at the stomach and supporting the viscera." [ncithesaurus:Omentum] xref: CALOHA:TS-2004 xref: EV:0100084 xref: FMA:14650 xref: GAID:23 xref: galen:Omentum xref: MESH:D009852 xref: NCIT:C33209 xref: SCTID:362710002 xref: UMLS:C0028977 {source="ncithesaurus:Omentum"} is_a: UBERON:0000061 ! anatomical structure property_value: has_relational_adjective "omental" xsd:string [Term] id: UBERON:0003690 name: fused sacrum namespace: uberon def: "A collection of sacral vertebrae in the sacral region that are fused and part of the bony pelvis." [https://orcid.org/0000-0002-6601-2165] subset: efo_slim subset: human_reference_atlas subset: pheno_slim synonym: "os sacrum" RELATED LATIN [Wikipedia:Sacrum] synonym: "os sacrum [vertebrae sacrales I - V]" EXACT LATIN [FMA:16202, FMA:TA] synonym: "sacral bone" RELATED [FMA:16202] synonym: "sacrum" EXACT HUMAN_PREFERRED [FMA:16202] synonym: "sacrum [sacral vertebrae I - V]" EXACT [FMA:16202] synonym: "sacrum [sacral vertebrae I-V]" EXACT [FMA:16202] xref: CALOHA:TS-2201 xref: EFO:0003071 xref: FMA:16202 xref: GAID:241 xref: galen:Sacrum xref: MESH:D012447 xref: NCIT:C33508 xref: SCTID:264186006 xref: Wikipedia:Sacrum is_a: UBERON:0001474 ! bone element relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001137 ! dorsum relationship: part_of UBERON:0001434 ! skeletal system relationship: part_of UBERON:0002090 ! postcranial axial skeleton relationship: part_of UBERON:0002100 ! trunk relationship: part_of UBERON:0002355 ! pelvic region of trunk property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/e/ec/Gray95.png xsd:anyURI property_value: has_relational_adjective "sacral" xsd:string property_value: RO:0002175 NCBITaxon:9606 property_value: UBPROP:0000012 "the AAO class 'sacrum' is deliberately placed under 'sacral vertebra' rather than here" xsd:string {external_ontology="AAO"} [Term] id: UBERON:0003693 name: retroperitoneal space namespace: uberon def: "Anatomical space in the abdominal cavity behind (retro) the peritoneum. It has no specific delineating anatomical structures. Organs are retroperitoneal if they only have peritoneum on their anterior side." [Wikipedia:Retroperitoneal_space] subset: efo_slim subset: pheno_slim synonym: "retroperitoneum" EXACT [FMA:15080] synonym: "spatium retroperitoneale" EXACT LATIN [Wikipedia:Retroperitoneum] xref: CALOHA:TS-2337 xref: EFO:0002806 xref: FMA:15080 xref: GAID:25 xref: MESH:D012187 xref: NCIT:C12298 xref: SCTID:243983004 xref: UMLS:C0035359 {source="ncithesaurus:Retroperitoneum"} xref: Wikipedia:Retroperitoneal_space is_a: UBERON:0001062 ! anatomical entity relationship: part_of UBERON:0003684 ! abdominal cavity property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/f/f2/Gray1126.png xsd:anyURI property_value: has_relational_adjective "retroperitoneal" xsd:string [Term] id: UBERON:0003697 name: abdominal wall namespace: uberon def: "The tissues that surround the organs that are present within the abdominal cavity. The abdominal wall tissue is composed of layers of fat, parietal peritoneum, fascia, and muscles." [ncithesaurus:Abdominal_Wall] subset: pheno_slim synonym: "abdominal wall proper" RELATED [FMA:10429] synonym: "layers of the abdominal wall" RELATED [Wikipedia:Abdominal_wall] synonym: "paries abdominalis" EXACT [Wikipedia:Abdominal_wall] synonym: "paries abdominalis" RELATED LATIN [Wikipedia:Abdominal_wall] synonym: "wall of abdomen" EXACT [FMA:259054] synonym: "wall of abdomen proper" EXACT [FMA:10429] xref: EMAPA:37064 {source="MA:th"} xref: FMA:10429 xref: FMA:259054 xref: GAID:26 xref: MESH:D034861 xref: NCIT:C77608 xref: SCTID:181613000 xref: UMLS:C0836916 {source="ncithesaurus:Abdominal_Wall"} xref: Wikipedia:Abdominal_wall is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000916 ! abdomen property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/e/ee/Scheme_body_cavities-en.svg xsd:anyURI [Term] id: UBERON:0003728 name: mediastinum namespace: uberon def: "The central part of the thoracic cavity enclosed by the left and right pleurae." [UBERON:cjm, Wikipedia:Mediastinum] subset: efo_slim subset: pheno_slim synonym: "mediastinal part of chest" EXACT [FMA:9826] xref: CALOHA:TS-2338 xref: EFO:0003057 xref: EMAPA:36001 xref: FMA:9826 xref: GAID:94 xref: MA:0003075 xref: MESH:D008482 xref: NCIT:C12748 xref: SCTID:181217005 xref: UMLS:C0025066 {source="ncithesaurus:Mediastinum"} xref: Wikipedia:Mediastinum is_a: UBERON:0001062 ! anatomical entity property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/a/ab/Mediastinum.png xsd:anyURI property_value: has_relational_adjective "mediastinal" xsd:string [Term] id: UBERON:0003729 name: mouth mucosa namespace: uberon def: "A mucous membrane that lines the mouth." [http://orcid.org/0000-0002-6601-2165] subset: pheno_slim synonym: "buccal mucosa" RELATED [GAID:951] synonym: "mouth mucosa" EXACT [FMA:59660] synonym: "mouth mucous membrane" EXACT [OBOL:accepted] synonym: "mouth organ mucosa" EXACT [OBOL:accepted] synonym: "mucosa of mouth" EXACT [OBOL:accepted] synonym: "mucosal lining of mouth" RELATED [MA:0002794] synonym: "mucous membrane of mouth" EXACT [FMA:59660] synonym: "oral mucosa" RELATED [GAID:951] synonym: "oral mucous membrane" EXACT [] synonym: "oral part of viscerocranial mucosa" EXACT [FMA:59660] synonym: "tunica mucosa oris" EXACT LATIN [FMA:59660, FMA:TA] synonym: "tunica mucosa oris" RELATED LATIN [Wikipedia:Oral_mucosa] xref: BTO:0002860 xref: CALOHA:TS-0716 xref: EMAPA:26937 xref: FMA:59660 xref: GAID:951 xref: MA:0002794 xref: MESH:D009061 xref: NCIT:C77637 xref: UMLS:C0026639 {source="ncithesaurus:Oral_Mucosa"} xref: Wikipedia:Oral_mucosa is_a: UBERON:0000344 ! mucosa intersection_of: UBERON:0000344 ! mucosa intersection_of: part_of UBERON:0000165 ! mouth relationship: part_of UBERON:0000165 ! mouth property_value: external_definition "the mucous membrane epithelium of the mouth. It can be divided into three categories: masticatory, lining, and specialized[Wikipedia:Oral_mucosa]." xsd:string {source="Wikipedia:Oral_mucosa"} property_value: IAO:0000232 "this is defined as any mucous membrane of the mouth - including palate, lips, uvula, etc. ncit split mouth/oral mucosa into lip and buccal. In future we may split into masticatory/keratinized (gingiva + hard palate) vs lining/non-keratinized (lips, cheeks, floor of mouth, soft palate). FMA distinguishes between mucosa of mouth and region of mouth (the latter including the buccal mucosa)" xsd:string [Term] id: UBERON:0003849 name: mesencephalic neural crest namespace: uberon def: "A neural crest that has_potential_to_developmentally_contribute_to a midbrain." [OBOL:automatic] subset: efo_slim subset: vertebrate_core synonym: "mesencephalic neural crest" EXACT [ZFA:0000935] synonym: "neural crest midbrain" EXACT [ZFA:0000935] xref: EFO:0003591 xref: EHDAA2:0001101 xref: EHDAA:360 xref: TAO:0000935 xref: VHOG:0000796 xref: ZFA:0000935 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0002050 ! embryonic structure is_a: UBERON:0003099 ! cranial neural crest relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0002050 ! embryonic structure property_value: homology_notes "We conclude this section by listing some of the many synapomorphies of craniates, including (1) the neural crest (...).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000796", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.43", source="http://bgee.unil.ch/"} [Term] id: UBERON:0003850 name: telencephalon neural crest namespace: uberon def: "A neural crest that has_potential_to_developmentally_contribute_to a telencephalon." [OBOL:automatic] subset: efo_slim subset: vertebrate_core synonym: "neural crest telencephalon" EXACT [ZFA:0000812] xref: EFO:0003574 xref: RETIRED_EHDAA2:0001991 xref: TAO:0000812 xref: VHOG:0000799 xref: ZFA:0000812 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0002050 ! embryonic structure property_value: external_definition "Cranial neural crest that is part of the telencephalon.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000812", ontology="TAO", source="ZFIN:curator"} property_value: homology_notes "We conclude this section by listing some of the many synapomorphies of craniates, including (1) the neural crest (...).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000799", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.43", source="http://bgee.unil.ch/"} [Term] id: UBERON:0003851 name: diencephalon neural crest namespace: uberon def: "A neural crest that has_potential_to_developmentally_contribute_to a diencephalon." [OBOL:automatic] subset: efo_slim synonym: "diencephalic neural crest" EXACT [ZFA:0000811] synonym: "future diencephalon neural crest" EXACT [EHDAA2:0000603] synonym: "neural crest diencephalon" EXACT [ZFA:0000811] synonym: "neural crest of future diencephalon" EXACT [EMAPA:16518] xref: EFO:0003573 xref: EHDAA2:0000603 xref: EMAPA:16518 xref: TAO:0000811 xref: VHOG:0000798 xref: ZFA:0000811 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0002050 ! embryonic structure property_value: homology_notes "We conclude this section by listing some of the many synapomorphies of craniates, including (1) the neural crest (...).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000798", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.43", source="http://bgee.unil.ch/"} [Term] id: UBERON:0003861 name: neural arch namespace: uberon def: "Posterior part of a vertebra that consists of a pair of pedicles and a pair of laminae, and supports seven processes: four articular processes, two transverse processes one spinous process[WP]. ZFA: A neural arch encloses the neural canal and typically meets its partner to form a neural spine." [Wikipedia:Vertebral_arch] subset: efo_slim subset: pheno_slim subset: vertebrate_core synonym: "arcus vertebra" EXACT [Wikipedia:Vertebral_arch] synonym: "arcus vertebrae" EXACT PLURAL [Wikipedia:Vertebral_arch] synonym: "arcus vertebrae" RELATED LATIN [Wikipedia:Vertebral_arch] synonym: "arcus vertebrae (vertebralis)" EXACT [FMA:11946] synonym: "dorsal arcocentrum" EXACT [ZFA:0001066] synonym: "vertebra dorsal arch" RELATED [MA:0001453] synonym: "vertebra neural arch" BROAD SENSU [MA:0001453] xref: AAO:0000725 xref: EFO:0003618 xref: FMA:11946 xref: MA:0001453 xref: NCIT:C32138 xref: SCTID:317373001 xref: TAO:0001066 xref: UMLS:C0223076 {source="ncithesaurus:Arch_of_the_Vertebra"} xref: VHOG:0001670 xref: Wikipedia:Vertebral_arch xref: ZFA:0001066 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001474 ! bone element relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001434 ! skeletal system relationship: part_of UBERON:0002412 ! vertebra property_value: axiom_lost_from_external_ontology "relationship loss: develops_from basidorsal (TAO:0001060)[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0001066", ontology="TAO"} property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/3/30/Gray82.png xsd:anyURI property_value: external_definition "A neural arch encloses the neural canal and typically meets its partner to form a neural spine. The neural arch can be a replacement ossification of the basidorsal cartilage or can form directly in membrane bone.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0001066", ontology="TAO", source="ZFIN:curator"} property_value: external_definition "Bony arch perched on the vertebral centrum; successive arches enclose the neural canal that surrounds and protects the spinal cord dorsally.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000725", ontology="AAO", source="AAO:Pugener_2002"} property_value: external_definition "the dorsal bony and/or cartilaginous part of a vertebra, consisting of a pair of pedicles, a pair of laminae, and seven processes (four articular processes, two transverse processes, and one spinous process)" xsd:string {source="MP:0004599:csmith"} property_value: homology_notes "(...) certain common components [of vertebral structure] are found in nearly all vertebrate. A representative vertebra has a vertebral arch or neural arch, which extends dorsally around the spinal cord.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001670", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.270", source="http://bgee.unil.ch/"} property_value: taxon_notes "tiny neural arches present in Hagfish (which lack a true vertebraal column)." xsd:string property_value: UBPROP:0000011 "The neural arch can be a replacement ossification of the basidorsal cartilage or can form directly in membrane bone" xsd:string [Term] id: UBERON:0003881 name: CA1 field of hippocampus namespace: uberon def: "Part of hippocampus proper bounded by CA2 and the subiculum, characterized by pyramidal neurons that receive projections from pyramidal neurons of CA3 via the Schaffer collaterals." [BIRNLEX:1197] subset: efo_slim subset: pheno_slim synonym: "CA1" EXACT [] synonym: "CA1 field" EXACT [] synonym: "CA1 field of Ammon's horn" EXACT [] synonym: "CA1 field of cornu ammonis" EXACT [] synonym: "CA1 field of hippocampus" EXACT [] synonym: "CA1 field of the Ammon horn" RELATED [BAMS:CA1] synonym: "CA1 field of the hippocampus" RELATED LATIN [NeuroNames:183] synonym: "cornu ammonis 1" EXACT [BIRNLEX:1197] synonym: "field CA1" RELATED [NeuroNames:183] synonym: "field CA1 of hippocampus" RELATED [NeuroNames:183] synonym: "field CA1, Ammon's horn (Lorente de Ns)" RELATED [NeuroNames:183] synonym: "hippocampus CA1" EXACT [] synonym: "prosubiculum = distal ca1" EXACT [BIRNLEX:1197] synonym: "regio I cornus ammonis" EXACT LATIN [FMA:74042, FMA:TA] synonym: "regio I hippocampi proprii" EXACT LATIN [FMA:74042, FMA:TA] synonym: "regio superior" EXACT [BIRNLEX:1197] synonym: "regio superior of the hippocampus" EXACT [FMA:74042] synonym: "region 1 of Ammon's horn" EXACT [] synonym: "region CA1" RELATED [NeuroNames:183] synonym: "region i of ammon's horn" EXACT [FMA:74042] synonym: "region i of hippocampus proper" EXACT [FMA:74042] xref: BAMS:CA1 xref: BIRNLEX:1197 xref: DHBA:10297 xref: DMBA:16131 xref: EFO:0002454 xref: EMAPA:32768 xref: FMA:74042 xref: HBA:12892 xref: MA:0000950 xref: MBA:382 xref: MESH:D056547 xref: NCIT:C32246 xref: neuronames:183 {source="BIRNLEX:1197"} xref: PBA:10058 xref: UMLS:C0694598 {source="ncithesaurus:CA1_Field_of_the_Cornu_Ammonis", source="BIRNLEX:1197"} xref: Wikipedia:Region_I_of_hippocampus_proper is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0002421 ! hippocampal formation property_value: RO:0002171 UBERON:0003882 {source="ABA"} property_value: RO:0002171 UBERON:0003883 {source="ABA"} [Term] id: UBERON:0003882 name: CA2 field of hippocampus namespace: uberon def: "Part of hippocampus proper bounded by areas CA3 and CA1, characterized by a narrow layer of large pyramidal cells, similar in size to CA3 pyramidal cells, but which lack the mossy fiber input from the dentate gyrus (adapted from Paxinos, G. The rat central nervous system, 2nd ed, Academic Press, San Diego, 1995, pg. 460)." [BIRNLEX:1362] subset: efo_slim subset: pheno_slim synonym: "CA2" EXACT [] synonym: "CA2 field" EXACT [] synonym: "CA2 field of Ammon's horn" EXACT [] synonym: "CA2 field of cornu ammonis" EXACT [] synonym: "CA2 field of hippocampus" EXACT [] synonym: "CA2 field of the Ammon horn" RELATED [BAMS:CA2] synonym: "CA2 field of the hippocampus" RELATED [NeuroNames:184] synonym: "cornu Ammonis 2" RELATED LATIN [NeuroNames:184] synonym: "field CA2" RELATED [NeuroNames:184] synonym: "field CA2 of hippocampus" RELATED [NeuroNames:184] synonym: "field CA2, Ammon's horn (Lorente de Ns)" RELATED [NeuroNames:184] synonym: "hippocampus CA2" EXACT [] synonym: "regio ii cornus ammonis" EXACT LATIN [FMA:74044, FMA:TA] synonym: "regio ii hippocampi proprii" EXACT LATIN [FMA:74044, FMA:TA] synonym: "region 2 of Ammon's horn" EXACT [] synonym: "region CA2" RELATED [NeuroNames:184] synonym: "region II of ammon's horn" EXACT [FMA:74044] synonym: "region II of hippocampus proper" EXACT [FMA:74044] xref: BAMS:CA2 xref: BIRNLEX:1362 xref: DHBA:10298 xref: DMBA:16136 xref: EFO:0002455 xref: EMAPA:32769 xref: FMA:74044 xref: HBA:12893 xref: MA:0000951 xref: MBA:423 xref: MESH:D056651 xref: NCIT:C32247 xref: neuronames:184 {source="BIRNLEX:1362"} xref: PBA:10063 xref: UMLS:C0694599 {source="ncithesaurus:CA2_Field_of_the_Cornu_Ammonis", source="BIRNLEX:1362"} xref: Wikipedia:Region_II_of_hippocampus_proper is_a: MA:0000191 ! hippocampus relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0002421 ! hippocampal formation property_value: RO:0002171 UBERON:0003881 {source="ABA"} property_value: RO:0002171 UBERON:0003883 {source="ABA"} [Term] id: UBERON:0003883 name: CA3 field of hippocampus namespace: uberon def: "Part of hippocampus proper bounded by the hilus of the dentate gyrus and area CA2, characterized by large pyramidal cells and a dense projection from dentate gyrus granule cell mossy fibers." [http://neurolex.org/wiki/Category\:CA3] subset: efo_slim subset: pheno_slim synonym: "CA3" EXACT [] synonym: "CA3" RELATED [Wikipedia:Region_III_of_hippocampus_proper] synonym: "CA3 field" EXACT [] synonym: "CA3 field of Ammon's horn" EXACT [] synonym: "CA3 field of cornu ammonis" EXACT [] synonym: "CA3 field of hippocampus" EXACT [] synonym: "CA3 field of the Ammon horn" RELATED [BAMS:CA3] synonym: "CA3 field of the hippocampus" RELATED [NeuroNames:185] synonym: "cornu Ammonis 3" RELATED LATIN [NeuroNames:185] synonym: "field CA3" RELATED [NeuroNames:185] synonym: "field CA3 of hippocampus" RELATED [NeuroNames:185] synonym: "field CA3, Ammon's horn (Lorente de Ns)" RELATED [NeuroNames:185] synonym: "hippocampus CA3" EXACT [] synonym: "regio hippocampi proprii III" RELATED LATIN [Wikipedia:Region_III_of_hippocampus_proper] synonym: "regio III cornus ammonis" EXACT LATIN [FMA:74045, FMA:TA] synonym: "regio III cornus ammonis" RELATED LATIN [Wikipedia:Region_III_of_hippocampus_proper] synonym: "regio III hippocampi proprii" EXACT LATIN [FMA:74045, FMA:TA] synonym: "regio inferior" EXACT [BIRNLEX:1204] synonym: "region 3 of Ammon's horn" EXACT [] synonym: "region CA3" RELATED [NeuroNames:185] synonym: "region III of ammon's horn" EXACT [FMA:74045] synonym: "region III of hippocampus proper" EXACT [FMA:74045] xref: BAMS:CA3 xref: BIRNLEX:1204 xref: DHBA:10299 xref: DMBA:16141 xref: EFO:0002456 xref: EMAPA:32770 xref: FMA:74045 xref: HBA:12894 xref: MA:0000952 xref: MBA:463 xref: MESH:D056654 xref: NCIT:C32248 xref: neuronames:185 {source="BIRNLEX:1204"} xref: PBA:10068 xref: UMLS:C0694600 {source="BIRNLEX:1204", source="ncithesaurus:CA3_Field_of_the_Cornu_Ammonis"} xref: Wikipedia:Region_III_of_hippocampus_proper is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0002421 ! hippocampal formation property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/a/ab/HippocampalRegions.jpg xsd:anyURI property_value: RO:0002171 UBERON:0003881 {source="ABA"} property_value: RO:0002171 UBERON:0003882 {source="ABA"} [Term] id: UBERON:0003884 name: CA4 field of hippocampus namespace: uberon def: "The last of four regions in the cornu ammonis of the hippocampus and is also part of the hilus of the dentate gyrus. This area contains mostly mossy cells that receive inputs from the dentate gyrus and pyramidal cells in the CA3 region and also projects back to the dentate gyrus." [ncithesaurus:CA4_Field_of_the_Cornu_Ammonis] subset: efo_slim subset: pheno_slim synonym: "CA4" EXACT [] synonym: "CA4 field" EXACT [] synonym: "CA4 field of Ammon's horn" EXACT [] synonym: "CA4 field of cornu ammonis" EXACT [] synonym: "hippocampus CA4" EXACT [] synonym: "regio IV cornus ammonis" EXACT LATIN [FMA:75741, FMA:TA] synonym: "regio IV hippocampi proprii" EXACT LATIN [FMA:75741, FMA:TA] synonym: "region 4 of Ammon's horn" EXACT [] synonym: "region IV of ammon's horn" EXACT [FMA:75741] synonym: "region IV of hippocampus proper" EXACT [FMA:75741] xref: DHBA:10300 xref: EFO:0002457 xref: EMAPA:32771 xref: FMA:75741 xref: HBA:12895 xref: MA:0000953 xref: NCIT:C32249 xref: neuronames:181 xref: PBA:10074 xref: UMLS:C2328406 {source="ncithesaurus:CA4_Field_of_the_Cornu_Ammonis"} xref: Wikipedia:Region_IV_of_hippocampus_proper is_a: MA:0000191 ! hippocampus relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0002421 ! hippocampal formation property_value: IAO:0000116 "consider obsoleting. consider - CA3c, hilus" xsd:string [Term] id: UBERON:0003889 name: fallopian tube namespace: uberon def: "Initial section of the oviduct through which the ova pass from the ovary to the uterus." [http://orcid.org/0000-0002-6601-2165, MGI:smb, MP:0003574] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "fallopian tubes" RELATED [] synonym: "female paramesonephric duct" RELATED [EHDAA2:0000504] synonym: "mammalian oviduct" EXACT [https://sourceforge.net/p/geneontology/ontology-requests/8397/] synonym: "paramesonephric duct of female" RELATED [EMAPA:35660] synonym: "salpinges" BROAD PLURAL [] synonym: "salpinx" BROAD [] synonym: "tuba uterina" RELATED LATIN [Wikipedia:Fallopian_tube] synonym: "uterine tube (sensu Mammalia)" EXACT [] xref: CALOHA:TS-0732 xref: EHDAA2:0000504 xref: EMAPA:18984 xref: EMAPA:35660 xref: EV:0100112 xref: FMA:18245 xref: GAID:365 xref: galen:FallopianTube xref: MA:0000385 xref: MESH:D005187 xref: NCIT:C12403 xref: SCTID:181463001 xref: UMLS:C0015560 {source="ncithesaurus:Fallopian_Tube"} xref: Wikipedia:Fallopian_tube is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000990 ! reproductive system relationship: part_of UBERON:0000993 ! oviduct relationship: part_of UBERON:0002355 ! pelvic region of trunk property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/6/68/Scheme_female_reproductive_system-en.svg xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "Homologous to appendix testis" xsd:string {source="Wikipedia:Talk:Fallopian_tube#Homology"} [Term] id: UBERON:0003894 name: liver primordium namespace: uberon def: "A small endodermal thickening in the foregut adjacent to the transverse septum. Invaginates forming the hepatic diverticulum." [ISBN:3211492755] subset: efo_slim subset: pheno_slim subset: vertebrate_core synonym: "embryological hepatic plate" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "hepatic plate" RELATED [EHDAA2:0000744] synonym: "liver bud" RELATED INCONSISTENT [XAO:0003266, ZFA:0000124] synonym: "liver endoderm" RELATED [EFO:0002577] synonym: "primordium of the liver" EXACT [ncithesaurus:Primordium_of_the_Liver] xref: AAO:0011058 xref: BTO:0003391 xref: EFO:0002577 xref: EFO:0003428 xref: EHDAA2:0000744 xref: EHDAA:973 xref: EMAPA:16847 xref: NCIT:C34277 xref: TAO:0000124 xref: UMLS:C0734013 {source="ncithesaurus:Hepatic_Cord"} xref: UMLS:C1514451 {source="ncithesaurus:Primordium_of_the_Liver"} xref: XAO:0003266 xref: ZFA:0000124 is_a: EFO:0003332 ! zebrafish embryonic structure is_a: UBERON:0000483 ! epithelium is_a: UBERON:0001048 ! primordium is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0002050 ! embryonic structure property_value: IAO:0000116 "consider adding further subdivisions of the endoderm, e.g. ventral foregut. Note we place two EFO classes here, it's not clear how they differ" xsd:string [Term] id: UBERON:0003901 name: horizontal septum namespace: uberon def: "A logitudinal sheet of continuous connective tissue partition developing at the apex of the chevron-shaped myotome and separating dorsal (epaxial) and ventral (hypaxial) body wall muscle masses; each is destined to become, respectively, the epaxial and hyopaxial musculature." [ISBN:0073040584, ZFA:0000671] subset: efo_slim synonym: "horizontal myoseptum" EXACT [ZFA:0000671] synonym: "horizontal septum of vertebra" RELATED [] xref: EFO:0003555 xref: TAO:0000671 xref: ZFA:0000671 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000383 ! musculature of body property_value: axiom_lost_from_external_ontology "relationship loss: subclass myoseptum (TAO:0001089)[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000671", ontology="TAO"} property_value: external_definition "A connective tissue partition developing at the apex of the chevron-shaped myotome and separating dorsal (epaxial) and ventral (hypaxial) body wall muscle masses. Kimmel et al, 1995.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000671", ontology="TAO", source="ZFIN:curator"} [Term] id: UBERON:0003903 name: bursa of Fabricius namespace: uberon def: "An epithelial and lymphoid organ that develops as a dorsal diverticulum of the proctodeal region of the cloaca in birds. The luminal (interior) surface of the bursa is plicated with as many as 15 primary and 7 secondary plicae or folds. These plicae have hundreds of bursal follicles containing follicle-associated epithelial cells, lymphocytes, macrophages, and plasma cells. Lymphoid stem cells migrate from the fetal liver to the bursa during ontogeny. In the bursa, these stem cells acquire the characteristics of mature, immunocompetent B cells[WP]. The bursa is an organ found in birds involved in B cell differentiation[GO]." [GO:0048540, Wikipedia:Bursa_of_Fabricius] subset: organ_slim xref: BTO:0001699 xref: GAID:1205 xref: MESH:D002060 xref: SCTID:86689007 xref: Wikipedia:Bursa_of_Fabricius is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001007 ! digestive system relationship: part_of UBERON:0002390 ! hematopoietic system [Term] id: UBERON:0003917 name: arthropod fat body namespace: uberon def: "An insect gland dorsal to the insect gut, with a function analogous to that of the vertebrate liver. It is a storage organ for fats, glycogen and protein and is a major site of intermediary metabolism." [GO:0007503] subset: efo_slim synonym: "fat body" EXACT SENSU [FBbt:00005066] synonym: "fat body sensu invertebrata" RELATED [EFO:0000810] xref: BTO:0000442 xref: EFO:0000810 xref: FBbt:00005066 xref: GAID:1213 xref: MESH:D005216 xref: MIAA:0000096 xref: TADS:0000321 xref: TGMA:0001856 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000467 ! anatomical system property_value: external_definition "A fatty tissue especially of nearly mature insect larvae that serves as a food reserve[BTO]." xsd:string {ontology="BTO"} property_value: IAO:0000116 "this term should be ceded to the arthropod anatomy ontology" xsd:string [Term] id: UBERON:0003921 name: pancreas primordium namespace: uberon def: "Embryonic structure that develops into pancreatic bud." [Wikipedia:Pancreas#Embryological_development] subset: efo_slim subset: vertebrate_core synonym: "pancreatic anlage" RELATED [ZFA:0000254] synonym: "pancreatic endoderm" RELATED [EFO:0002579] synonym: "pancreatic primordium" EXACT [] synonym: "primordial pancreas" RELATED [FMA:79792] xref: EFO:0002579 xref: EFO:0003434 xref: EHDAA2:0001382 xref: EHDAA:2163 xref: EMAPA:17066 xref: FMA:79792 xref: TAO:0000254 xref: XAO:0001101 xref: ZFA:0000254 is_a: EFO:0003332 ! zebrafish embryonic structure is_a: UBERON:0001048 ! primordium is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/d/db/Gray982.png xsd:anyURI property_value: UBPROP:0000012 "in EHDAA2 this has dorsal and ventral primordia as parts. the buds are part of the primordium, with the ducts developing from the buds; only parenchyma and ducts have contribution from buds" xsd:string {external_ontology="EHDAA2"} property_value: UBPROP:0000013 "revisit after standardizing terms 'primordium', 'anlagen', 'bud'" xsd:string [Term] id: UBERON:0003922 name: pancreatic epithelial bud namespace: uberon def: "The embryonic pancreas develops from two separate anlagen in the foregut epithelium, one dorsal and two ventral pancreatic buds[PMID]." [PMID:16417468, Wikipedia:Pancreatic_bud] subset: efo_slim synonym: "pancreas epithelium" RELATED [EMAPA:35645] synonym: "pancreatic anlage" RELATED [] synonym: "pancreatic bud" EXACT [ZFA:0001390] synonym: "pancreatic buds" EXACT PLURAL [TAO:0001390] xref: EFO:0003470 xref: EMAPA:35645 xref: NCIT:C34242 xref: SCTID:360398004 xref: TAO:0001390 xref: UMLS:C1283285 {source="ncithesaurus:Pancreatic_Bud"} xref: Wikipedia:Pancreatic_bud xref: ZFA:0001390 is_a: EFO:0003332 ! zebrafish embryonic structure is_a: UBERON:0000483 ! epithelium relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0003921 ! pancreas primordium property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/4/49/Suckale08FBS_fig1_pancreas_development.jpeg xsd:anyURI property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/d/db/Gray982.png xsd:anyURI [Term] id: UBERON:0003932 name: cartilage element of chondrocranium namespace: uberon def: "A cartilage element of chondrocranium. Example: neurocranial trabecula." [https://orcid.org/0000-0002-6601-2165] subset: efo_slim synonym: "cartilage of chondrocranium" EXACT [OBOL:accepted] synonym: "cartilaginous element of chondrocranium" EXACT [OBOL:accepted] synonym: "chondrocranium cartilage" EXACT [ZFA:0001461] synonym: "neurocranium cartilage" EXACT [ZFA:0001461] xref: EFO:0003690 xref: TAO:0001461 xref: ZFA:0001461 is_a: EFO:0003331 ! zebrafish component is_a: EFO:0003858 ! skeleton structure relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001434 ! skeletal system [Term] id: UBERON:0003934 name: mesenchyme pectoral fin namespace: uberon def: "Mesenchyme that is part of a developing pectoral fin [Automatically generated definition]." [OBOL:automatic] subset: efo_slim synonym: "mesenchyme of pectoral fin" EXACT [OBOL:automatic] synonym: "mesenchyme pectoral fins" RELATED PLURAL [ZFA:0001000] synonym: "pectoral fin mesenchyme" EXACT [OBOL:automatic] xref: EFO:0003604 xref: TAO:0001000 xref: ZFA:0001000 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000468 ! multicellular organism property_value: external_definition "Mesenchyme that is part of the pectoral fin.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0001000", ontology="TAO", source="ZFIN:curator"} [Term] id: UBERON:0003936 name: postoptic commissure namespace: uberon subset: efo_slim synonym: "POC" EXACT [ZFA:0000059] synonym: "post optic commissure" EXACT [ZFA:0000059] synonym: "post-optic commissure" EXACT [ZFA:0000059] xref: EFO:0003478 xref: MBA:174 xref: TAO:0000059 xref: ZFA:0000059 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0001017 ! central nervous system relationship: part_of UBERON:0001894 ! diencephalon [Term] id: UBERON:0003949 name: tubal tonsil namespace: uberon def: "The lymph tissue associated with the pharyngeal opening of the auditory tube." [MP:0002386] subset: pheno_slim synonym: "auditory tube lymph gland" EXACT [FMA:54975] synonym: "eustachian amygdala" EXACT [FMA:54975] synonym: "Gerlach's tonsil" EXACT [FMA:54975] synonym: "Gerlach's tubal tonsil" EXACT [FMA:54975] xref: FMA:54975 xref: SCTID:143319002 xref: Wikipedia:Tubal_tonsil is_a: UBERON:0002372 ! tonsil [Term] id: UBERON:0003982 name: mature ovarian follicle namespace: uberon def: "." [MP:0009364] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: vertebrate_core synonym: "antral follicle" RELATED [BTO:0000389] synonym: "folliculi ovarici vesiculosi" RELATED [BTO:0000389] synonym: "ovarian follicle stage IV" EXACT [ZFA:0001264] synonym: "ovary mature follicle" EXACT [MA:0001709] synonym: "preovulatory follicle" RELATED [BTO:0000389] xref: BTO:0000389 xref: EFO:0003653 xref: EMAPA:30777 xref: MA:0001709 xref: TAO:0001264 xref: ZFA:0001264 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000990 ! reproductive system relationship: part_of UBERON:0000992 ! ovary property_value: external_definition "Stage IV (690-730 microns) are oocyte maturation. Selman et al, 1993.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0001264", ontology="TAO", source="ZFIN:curator"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0004026 name: caudal ganglionic eminence namespace: uberon def: "The caudally located, distinct elevation of a transient proliferating cell mass of the fetal subventricular zone, located adjacent to the lateral ventricle." [MP:0004278] subset: efo_slim subset: pheno_slim synonym: "CGE" BROAD [] xref: DHBA:10552 xref: EFO:0001911 xref: EMAPA:37469 {source="MA:th"} xref: PBA:128012846 is_a: UBERON:0002050 ! embryonic structure [Term] id: UBERON:0004027 name: chorionic plate namespace: uberon def: "That portion of the chorionic wall in the region of its uterine attachment, which gives rise to chorionic villi; it consists of the mesoderm that lines the chorionic vesicle and, on the maternal side, of the trophoblast that lines the intervillous spaces; in the last half of gestation, the mesodermal connective tissue is largely replaced by fibrinoid material, and the amnionic membrane is adherent to the fetal side of the plate." [http://www.medilexicon.com/medicaldictionary.php?t=69523, MP:0004560] subset: human_reference_atlas subset: pheno_slim xref: BTO:0002879 xref: EMAPA:31872 xref: NCIT:C34123 xref: SCTID:256391000 xref: UMLS:C0230972 {source="ncithesaurus:Chorionic_Plate"} is_a: UBERON:0005292 ! extraembryonic tissue relationship: part_of UBERON:0001987 ! placenta relationship: part_of UBERON:0003124 ! chorion membrane property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0004064 name: neural tube basal plate namespace: uberon def: "The region of the mantle layer of the neural tube that lies ventral to the sulcus limitans and contains primarily motor neurons and interneurons." [http://www.ncbi.nlm.nih.gov/books/NBK10047, MP:0009693, Wikipedia:Basal_plate_(neural_tube)] subset: efo_slim subset: pheno_slim synonym: "basal plate" EXACT [] synonym: "basal plate of neural tube" EXACT [Wikipedia:Basal_plate_(neural_tube)] synonym: "motor part of neural tube" RELATED [] synonym: "spinal cord basal plate" NARROW [MP:0009693] synonym: "ventral part of neural tube" RELATED [] xref: AAO:0010561 xref: EFO:0001904 xref: NCIT:C34111 xref: neuronames:1372 xref: UMLS:C1511061 {source="ncithesaurus:Basal_Plate"} xref: Wikipedia:Basal_plate_(neural_tube) is_a: EFO:0001903 ! nervous system developmental tissue relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0002050 ! embryonic structure [Term] id: UBERON:0004067 name: lateral nasal prominence namespace: uberon def: "The lateral area of the two branches of a horseshoe-shaped mesenchymal swelling in the future nasal region of the embryo; it separates the olfactory pit from the developing eye and the ala of the nose/snout develops from it." [MP:0009902, Wikipedia:Lateral_nasal_prominence] subset: pheno_slim synonym: "lateral nasal process" EXACT [EHDAA2:0000916] synonym: "lateral nasal swelling" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "latero-nasal process" EXACT [EMAPA:16805] synonym: "prominentia nasalis lateralis" RELATED LATIN [Wikipedia:Lateral_nasal_prominence] xref: EHDAA2:0000916 xref: EHDAA:4786 xref: EMAPA:16805 xref: FMA:295864 xref: SCTID:308880000 xref: Wikipedia:Lateral_nasal_prominence is_a: UBERON:0000061 ! anatomical structure is_a: UBERON:0002050 ! embryonic structure disjoint_from: UBERON:0004068 ! medial nasal prominence relationship: part_of UBERON:0000033 ! head relationship: part_of UBERON:0000922 ! embryo property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/2/2d/Gray48.png xsd:anyURI [Term] id: UBERON:0004068 name: medial nasal prominence namespace: uberon def: "The central area of the two limbs of a horseshoe-shaped mesenchymal swelling that lie medial to the olfactory placode or pit in the future nasal region of the embryo; it joins with the ipsilateral maxillary prominence in the formation of half of the upper jaw, and the nasal tip and philtrum of the upper lip develop from it." [MP:0009903, Wikipedia:Medial_nasal_prominence] subset: pheno_slim synonym: "medial nasal process" EXACT [EHDAA2:0001076] synonym: "medial nasal swelling" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "medial-nasal process" EXACT [EMAPA:16808] synonym: "nasomedial prominence" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "prominentia nasalis medialis" EXACT LATIN [Wikipedia:Medial_nasal_prominence] xref: EHDAA2:0001076 xref: EHDAA:4792 xref: EMAPA:16808 xref: FMA:295858 xref: SCTID:308877001 xref: VHOG:0000804 xref: Wikipedia:Medial_nasal_prominence is_a: UBERON:0000061 ! anatomical structure is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000033 ! head relationship: part_of UBERON:0000922 ! embryo property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/8/85/Gray45.png xsd:anyURI property_value: UBPROP:0000011 "Fusion of right and left medial nasal processes forms a primary palate rostrally and the nasal septum caudally. The incisive bone, including upper incisor teeth and the rostral up- per lip, are derived from the primary palate. The nasal septum consists of bone, cartilage, and a patch of soft tissue membrane that separates right & left halves of the nasal cavity." xsd:string [Term] id: UBERON:0004086 name: brain ventricle namespace: uberon def: "One of the system of communicating cavities in the brain that are continuous with the central canal of the spinal cord, that like it are derived from the medullary canal of the embryo, that are lined with an epithelial ependyma, and that contain a serous fluid." [https://github.com/obophenotype/uberon/issues/300] subset: efo_slim subset: human_reference_atlas subset: pheno_slim synonym: "brain ventricles" EXACT PLURAL [] synonym: "cerebral ventricle" EXACT [HP:0002118] synonym: "region of ventricular system of brain" EXACT [FMA:78447] xref: BIRNLEX:1356 xref: BTO:0001442 xref: EFO:0001914 xref: EMAPA:32674 xref: FMA:78447 xref: HBA:9418 xref: MA:0000818 xref: MESH:D002552 xref: NCIT:C12356 xref: neuronames:2497 xref: SCTID:180929003 xref: UMLS:C0007799 {source="ncithesaurus:Ventricle_Brain"} is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system property_value: external_definition "Organ cavity of the brain which consists of the lateral ventricles, the third and fourth ventricles and the cerebral aqueduct[BIRNLEX:1356]." xsd:string {source="BIRNLEX:1356"} property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/cmungall property_value: RO:0002175 NCBITaxon:9606 property_value: UBPROP:0000012 "FMA draws the distinction between e.g. 'fourth ventricle' and 'cavity of fourth ventricle'. The latter is a cavity, and part of the former, which is a region. The superclass of 'fourth ventricle' is_a 'region of ventricular system of the brain'. We place this class here, although it is not equivalent to ventricles, as it includes ventricle bodies." xsd:string {external_ontology="FMA"} [Term] id: UBERON:0004117 name: pharyngeal pouch namespace: uberon def: "An internal pocketing of pharyngeal endoderm that contacts a region of ectoderm (a pharyngeal cleft) and interdigitates in the anterior and posterior directions with the pharyngeal arches." [http://orcid.org/0000-0002-6601-2165, PMID:23020903, ZFA:0001106] comment: The pouches are polarized structures. For example, whereas the rostral half of each pouch expresses Bmp-7, the caudal half expresses FGF-8 and the dorsal aspect of each pouch is marked via its expression of Pax-1. each pouch has an individual sense of identity. Shh expression is a prominent early feature of the caudal endoderm of the second arch, and individual pouches mark the anterior limits of expression of Hox genes within the pharyngeal endoderm; Hox-a2 has a rostral boundary at the second pouch, Hox-a3 at the third pouch and Hox-a4 at the most caudal pouch[PMID:16313389] subset: efo_slim subset: pheno_slim subset: vertebrate_core synonym: "branchial pouch" EXACT [Wikipedia:Branchial_pouch] synonym: "pharyngeal pouches" RELATED [VHOG:0001203] synonym: "visceral pouch" EXACT SENSU [] synonym: "visceral pouches" RELATED [VHOG:0001203] xref: AAO:0011113 xref: EFO:0003627 xref: EHDAA:1086 xref: EHDAA:1669 xref: EHDAA:579 xref: EHDAA:617 xref: EMAPA:32752 xref: FMA:293063 xref: NCIT:C34252 xref: SCTID:34674002 xref: TAO:0001106 xref: UMLS:C0231067 {source="ncithesaurus:Pharyngeal_Pouch"} xref: VHOG:0001203 xref: Wikipedia:Pharyngeal_pouch_(embryology) xref: XAO:0000282 xref: ZFA:0001106 is_a: UBERON:0000483 ! epithelium is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0002050 ! embryonic structure property_value: external_definition "Outpocketings of pharyngeal endoderm that interdigitate with the neural crest derived pharyngeal arches. The pouches later fuse with the surface ectoderm to form the gill slits. Crump et al, 2004.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0001106", ontology="TAO", source="ZFIN:curator"} property_value: homology_notes "A conserved feature of all vertebrate embryos is the presence of a series of bulges on the lateral surface of the head, the pharyngeal arches; it is within these structures that the nerves, muscles and skeletal components of the pharyngeal apparatus are laid down. The pharyngeal arches are separated by endodermal outpocketings, the pharyngeal pouches.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001203", ontology="VHOG", source="DOI:10.1111/j.1469-7580.2005.00472.x Graham A, Okabe M, Quinlan R, The role of the endoderm in the development and evolution of the pharyngeal arches. J Anat (2005)", source="http://bgee.unil.ch/"} property_value: UBPROP:0000012 "EMAPA also includes a distinct pouch endoderm" xsd:string {external_ontology="EMAPA"} [Term] id: UBERON:0004122 name: genitourinary system namespace: uberon def: "Anatomical system that has as its parts the organs concerned with the production and excretion of urine and those concerned with reproduction." [VHOG:0000286] subset: efo_slim subset: pheno_slim synonym: "genito-urinary system" RELATED [FMA:280610] synonym: "genitourinary tract" RELATED [] synonym: "GU tract" RELATED [] synonym: "UG tract" RELATED [] synonym: "urogenital system" EXACT [] synonym: "urogenital tract" RELATED [BTO:0003091] synonym: "Urogenitalsystem" RELATED [BTO:0003091] xref: AAO:0000624 xref: BILA:0000122 xref: BTO:0003091 xref: EFO:0003864 xref: EHDAA:1013 xref: EMAPA:16367 xref: EV:0100094 xref: FMA:280610 xref: GAID:362 xref: galen:GenitoUrinarySystem xref: MESH:D014566 xref: NCIT:C12810 xref: SCTID:278861008 xref: UMLS:C0042066 {source="ncithesaurus:Genitourinary_System"} xref: VHOG:0000286 xref: XAO:0000140 is_a: UBERON:0000467 ! anatomical system property_value: axiom_lost_from_external_ontology "relationship type change: differentiates_from intermediate mesoderm (AAO:0010575) CHANGED TO: develops_from intermediate mesoderm (UBERON:0003064)[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000624", ontology="AAO"} property_value: external_definition "Anatomical system that has as its parts the organs concerned with the production and excretion of urine and those concerned with reproduction.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000624", ontology="AAO", source="AAO:EJS"} property_value: has_relational_adjective "genitourinary" xsd:string property_value: has_relational_adjective "urogenital" xsd:string property_value: homology_notes "Kidneys and gonads (of vertebrates) develop from adjacent tissues, and after the excretory or urinary ducts have developed, the reproductive system usually taps into them or their derivatives.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000286", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.633", source="http://bgee.unil.ch/"} [Term] id: UBERON:0004124 name: myocardium trabecular layer namespace: uberon def: "The layer of the myocardium composed of projections of contractile myocytes. The trabecular layer is bounded internally by the endocardium. In zebrafish, unlike the trabeculations of higher vertebrates, both atrial and ventricular trabeculae have more strut-like character, and are more uniform without apparent regional differences[ZFA]." [ZFA:0005059] subset: efo_slim subset: vertebrate_core synonym: "heart muscle trabecula" RELATED [] synonym: "heart muscle trabeculae" RELATED PLURAL [] synonym: "myocardial trabeculae carneae" RELATED PLURAL [] synonym: "myocardial trabecular layer" EXACT [] synonym: "trabecula of heart muscle" RELATED [] synonym: "trabeculae" RELATED [TAO:0005059] synonym: "trabecular layer" EXACT [ZFA:0005059] xref: EFO:0003706 xref: MA:0002866 xref: TAO:0005059 xref: ZFA:0005059 is_a: EFO:0001955 ! heart component is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000948 ! heart relationship: part_of UBERON:0002349 ! myocardium property_value: external_definition "The layer of the myocardium composed of projections of contractile myocytes. The trabecular layer is bounded internally by the the endocardium. Unlike the trabeculations of higher vertebrates, both atrial and ventricular trabeculae of the zebrafish have more strut-like character, and are more uniform without apparent regional differences Hu et al. 2001.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0005059", ontology="TAO", source="ZFIN:curator"} [Term] id: UBERON:0004134 name: proximal tubule namespace: uberon def: "In mammals, the proximal tubule is a nephron tubule that connects Bowman's capsule to the loop of Henle. It has a brush border epithelial morphology[GO]." [GO:0072014] subset: human_reference_atlas synonym: "kidney proximal tubule" EXACT [MA:0002611] synonym: "proximal kidney tubule" EXACT [MESH:A05.810.453.736.560.570] synonym: "renal proximal tubule" EXACT [] xref: BTO:0001498 xref: CALOHA:TS-0509 xref: EMAPA:28281 xref: MA:0002611 xref: MESH:D007687 is_a: UBERON:0001231 ! nephron tubule relationship: part_of UBERON:0001225 ! cortex of kidney relationship: part_of UBERON:0001231 ! nephron tubule relationship: part_of UBERON:0001285 ! nephron property_value: IAO:0000116 "TODO - ensure definition works across species." xsd:string property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0004135 name: distal tubule namespace: uberon def: "The distal tubule is a nephron tubule that consists of the distal convoluted tubule and distal straight tubule segments." [GO:0072017] synonym: "kidney distal tubule" EXACT [MA:0002633] synonym: "renal distal tubule" EXACT [] xref: BTO:0000482 xref: CALOHA:TS-0504 xref: EMAPA:28387 xref: MA:0002633 xref: MESH:D007686 is_a: UBERON:0001231 ! nephron tubule relationship: part_of UBERON:0001231 ! nephron tubule property_value: RO:0002171 UBERON:0012424 [Term] id: UBERON:0004141 name: heart tube namespace: uberon def: "An epithelial tube that will give rise to the mature heart." [GO:0003143, GOC:mtg_heart] subset: efo_slim subset: pheno_slim subset: vertebrate_core synonym: "embryonic heart tube" EXACT [GO:0003143] synonym: "endocardial heart tube" EXACT [MP:0012700] synonym: "endocardial tube" EXACT [XAO:0000337] xref: AAO:0010411 xref: EFO:0003526 xref: EMAPA:32685 xref: NCIT:C34161 xref: TAO:0000360 xref: XAO:0000337 xref: ZFA:0000360 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0000483 ! epithelium relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0002050 ! embryonic structure property_value: external_definition "the paired, longitudinal, endothelial-lined channels formed from the cardiogenic mesoderm in embryonic development; angiogenic cell clusters (aka angioblastic cords) located in a horse-shoe shape configuration in the cardiogenic plate coalesce to form the right and left endocardial heart tubes which then fuse in cephalo-caudal direction to form a single primitive heart tube." xsd:string {source="MP:0012700"} [Term] id: UBERON:0004152 name: bulbus arteriosus namespace: uberon def: "The bulbus arteriosus is an elastic heart chamber[GO]. Multi-tissue structure that consists of three layers and through which the blood exits the heart. The bulbus arteriosus is a pear shaped chamber that functions as a capacitor, maintaining continuous blood flow into the gill arches[ZFA]." [GO:0003232, PMID:15108157] subset: efo_slim synonym: "truncus" EXACT [ZFA:0000173] xref: EFO:0003505 xref: TAO:0000173 xref: ZFA:0000173 is_a: EFO:0001955 ! heart component is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000948 ! heart property_value: external_definition "A pear shaped chamber that functions as a capacitor, maintaining continuous blood flow into the gill arches. The bulbus arteriosus has three distinct layers. Hu et al. 2000.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000173", ontology="TAO", source="ZFIN:curator"} property_value: taxon_notes "replaces conus arteriosis in cartilaginous fish" xsd:string [Term] id: UBERON:0004167 name: orbitofrontal cortex namespace: uberon def: "The region of the cerebral cortex covering the basal surface of the frontal lobes; this region normally controls emotion and decision making." [GO:0021769, MGI:csmith, MP:0004170] subset: efo_slim subset: pheno_slim synonym: "fronto-orbital cortex" EXACT [] synonym: "orbital frontal cortex" EXACT [BIRNLEX:1049, DHB:OFC] synonym: "orbito-frontal cortex" EXACT [] synonym: "segment of cortex of frontal lobe" RELATED [FMA:242003] xref: BIRNLEX:1049 xref: DHBA:10194 xref: EFO:0001990 xref: FMA:242003 xref: neuronames:91 xref: UMLS:C0152301 {source="BIRNLEX:1049"} xref: Wikipedia:Orbitofrontal_cortex is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000956 ! cerebral cortex relationship: part_of UBERON:0001869 ! cerebral hemisphere relationship: part_of UBERON:0001870 ! frontal cortex property_value: UBPROP:0000012 "this is a gyrus in FMA" xsd:string {external_ontology="FMA"} [Term] id: UBERON:0004189 name: glomerular endothelium namespace: uberon def: "The glomerular endothelium is an epithelial tissue that covers the internal surfaces of the glomerulus." [GO:0072011] synonym: "endothelium of renal glomerulus" EXACT [OBOL:automatic] synonym: "renal glomerulus endothelium" EXACT [OBOL:automatic] xref: BTO:0004631 is_a: UBERON:0001986 ! endothelium intersection_of: UBERON:0001986 ! endothelium intersection_of: part_of UBERON:0000074 ! renal glomerulus relationship: part_of UBERON:0000074 ! renal glomerulus relationship: part_of UBERON:0001285 ! nephron relationship: part_of UBERON:0002113 ! kidney relationship: part_of UBERON:0004535 ! cardiovascular system [Term] id: UBERON:0004193 name: loop of Henle ascending limb thin segment namespace: uberon def: "A sub-portion of the loop of Henle in the nephron of the kidney that is permeable to ions but not to water." [GO:0072021, Wikipedia:Thin_ascending_limb_of_loop_of_Henle] subset: human_reference_atlas subset: pheno_slim synonym: "ascending limb thin segment of loop of Henle" EXACT [] synonym: "ascending thin limb" EXACT [FMA:17720] synonym: "pars ascendens (tubulus attenuatus)" EXACT [FMA:17720] synonym: "thin ascending limb" EXACT [EMAPA:28328] synonym: "thin ascending limb of loop of Henle" EXACT [] xref: EMAPA:28328 xref: EMAPA:28361 xref: FMA:17720 xref: MA:0001678 xref: Wikipedia:Thin_ascending_limb_of_loop_of_Henle is_a: UBERON:0001231 ! nephron tubule relationship: part_of UBERON:0001231 ! nephron tubule relationship: part_of UBERON:0001288 ! loop of Henle property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/0/02/Gray1128.png xsd:anyURI property_value: IAO:0000116 "check relationship to distal tubule" xsd:string property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0004200 name: kidney pyramid namespace: uberon alt_id: UBERON:0002449 alt_id: UBERON:0005098 def: "Kidney pyramids are the conical arrangements of tubules that constitute the renal medulla in a multi-lobed mammalian kidney; they contain the loops of Henle and the medullary collecting ducts." [GO:0072056, http://anatomy.uams.edu/anatomyhtml/kidney.html] subset: human_reference_atlas subset: pheno_slim synonym: "Malphigian pyramid" RELATED MISSPELLING [BTO:0003926] synonym: "Malpighian pyramid" EXACT [Wikipedia:Renal_pyramids] synonym: "Malpighian pyramid" RELATED [] synonym: "medullary pyramid" RELATED [] synonym: "pyramid" BROAD [GO:0072056] synonym: "pyramid of Malphigi" RELATED MISSPELLING [ncithesaurus:Pyramid_of_Malpighi] synonym: "pyramid of Malpighi" RELATED [UBERON:cjm] synonym: "pyramides renales" RELATED LATIN [Wikipedia:Renal_pyramids] synonym: "pyramis renalis" RELATED [BTO:0003926] synonym: "renal medullary region" RELATED [FMA:258870] synonym: "renal pyramid" EXACT [Wikipedia:Renal_pyramids] xref: BTO:0003926 xref: FMA:258870 xref: MA:0001654 xref: NCIT:C12886 xref: NCIT:C33436 xref: SCTID:361328001 xref: UMLS:C0227629 {source="ncithesaurus:Renal_Pyramid"} xref: UMLS:C1514613 {source="ncithesaurus:Pyramid_of_Malpighi"} xref: Wikipedia:Renal_pyramids is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000362 ! renal medulla relationship: UBPROP:0000202 FMA:74268 ! fma_set_term property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/7/7e/Kidney_PioM.png xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 property_value: UBPROP:0000012 "not the same as FMA:50609 Pyramid (which is a volume / dimensional entity)" xsd:string {external_ontology="FMA"} [Term] id: UBERON:0004203 name: cortical collecting duct namespace: uberon alt_id: UBERON:0005267 def: "The cortical collecting duct is the portion of the collecting duct that resides in the renal cortex." [GO:0072059] subset: human_reference_atlas synonym: "kidney cortex collecting duct" EXACT [MA:0002600] synonym: "renal cortex collecting duct" RELATED [MA:0002600] xref: BTO:0002643 xref: EMAPA:28130 xref: MA:0002600 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0001225 ! cortex of kidney relationship: part_of UBERON:0001232 ! collecting duct of renal tubule property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0004212 name: glomerular capillary namespace: uberon def: "The small branching blood vessels in the kidney glomerulus that receives blood from the kidney afferent arterioles; these capillaries are under high pressure for filtering within the glomerulus." [MGI:csmith, MP:0011320] subset: human_reference_atlas subset: pheno_slim subset: vertebrate_core synonym: "blood capillary of renal glomerulus" EXACT [OBOL:automatic] synonym: "capillary of renal glomerulus" EXACT [OBOL:automatic] synonym: "capillary vessel of renal glomerulus" EXACT [OBOL:automatic] synonym: "glomerular capillaries" RELATED PLURAL [] synonym: "glomerular capillary system" RELATED [MA:0002587] synonym: "renal glomerulus blood capillary" EXACT [OBOL:automatic] synonym: "renal glomerulus capillary" EXACT [OBOL:automatic] synonym: "renal glomerulus capillary vessel" EXACT [OBOL:automatic] xref: EMAPA:28245 xref: FMA:274259 xref: MA:0002587 xref: NCIT:C32684 xref: SCTID:362049007 xref: TAO:0005284 xref: UMLS:C0226356 {source="ncithesaurus:Glomerular_Capillary"} xref: ZFA:0005284 is_a: UBERON:0001982 ! capillary intersection_of: UBERON:0001982 ! capillary intersection_of: part_of UBERON:0000074 ! renal glomerulus relationship: part_of UBERON:0000074 ! renal glomerulus relationship: part_of UBERON:0000916 ! abdomen relationship: part_of UBERON:0002100 ! trunk relationship: part_of UBERON:0002113 ! kidney property_value: external_definition "Capillary that is part of the renal glomerulus. Glomerular capillary endothelial membranes in zebrafish normally have a fenestrated morphology that is visible at the ultrastructural level.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0005284", ontology="TAO", source="ZFIN:ZDB-PUB-000824-1", source="ZFIN:curator"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0004264 name: lower leg skin namespace: uberon def: "A zone of skin that is part of a lower leg [Automatically generated definition]." [OBOL:automatic] synonym: "hind limb middle limb segment skin" EXACT [OBOL:automatic] synonym: "hind limb zeugopod skin" EXACT [OBOL:automatic] xref: EMAPA:18156 xref: MA:0000680 xref: SCTID:244180007 is_a: UBERON:0000014 ! zone of skin relationship: part_of UBERON:0000978 ! leg relationship: part_of UBERON:0002101 ! limb relationship: part_of UBERON:0002103 ! hindlimb [Term] id: UBERON:0004288 name: skeleton namespace: uberon def: "Anatomical cluster that consists of all the skeletal elements (eg., bone, cartilage, and teeth) of the body." [VSAO:0000026] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "set of all bones" EXACT [] synonym: "set of bones of body" EXACT [] xref: AEO:0000168 xref: EHDAA2:0001843 xref: EHDAA:5047 xref: EMAPA:17213 xref: FMA:23875 xref: GAID:177 xref: galen:Skeleton xref: MA:0003006 xref: MAT:0000032 xref: MESH:D012863 xref: MIAA:0000032 xref: SCTID:361378004 xref: VSAO:0000026 xref: Wikipedia:Skeleton xref: XAO:0004053 is_a: EFO:0003858 ! skeleton structure disjoint_from: UBERON:0004770 ! articular system relationship: part_of UBERON:0001434 ! skeletal system property_value: external_definition "Anatomical cluster that consists of all the skeletal elements (eg., bone, cartilage, and teeth) of the body.[VSAO]" xsd:string {date_retrieved="2012-08-14", external_class="VSAO:0000026", ontology="VSAO", source="GO_REF:0000034, http://dx.plos.org/10.1371/journal.pone.0051070"} property_value: has_relational_adjective "skeletal" xsd:string property_value: RO:0002171 UBERON:0000383 property_value: RO:0002175 NCBITaxon:9606 property_value: seeAlso https://github.com/obophenotype/uberon/wiki/The-skeletal-system xsd:anyURI [Term] id: UBERON:0004363 name: pharyngeal arch artery namespace: uberon alt_id: UBERON:0004342 def: "One of a series of paired embryological vascular structures formed within a pharyngeal arch; in the adult, some of these vessels give rise to the great vessels[MP]." [MP:0002672] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "a. arcuum pharyngeorum" RELATED LATIN [Wikipedia:Aortic_arches] synonym: "aortic arch" EXACT [ZFA:0005004] synonym: "aortic arch artery" RELATED [EMAPA:16684] synonym: "aortic arches" EXACT PLURAL [ZFA:0005004] synonym: "arteriae arcuum pharyngeorum" RELATED LATIN [Wikipedia:Aortic_arches] synonym: "branchial aortic arches" EXACT PLURAL [ZFIN:ZDB-PUB-080512-6] synonym: "branchial aortic arches" RELATED PLURAL [ZFA:0005004, ZFIN:ZDB-PUB-080512-6] synonym: "branchial arch artery" EXACT [EMAPA:16684] synonym: "embryonic aortic arch artery" EXACT [EMAPA:16684, MP:0002672] synonym: "PAA" EXACT ABBREVIATION [MP:0002672] synonym: "pharyngeal arch arteries" RELATED PLURAL [] synonym: "pharyngeal arch artery" EXACT [MP:0002672] synonym: "pharyngeal arch artery" RELATED [VHOG:0000122] xref: AAO:0010414 xref: EFO:0003695 xref: EHDAA2:0000186 xref: EHDAA:398 xref: EHDAA:7327 xref: EMAPA:16684 xref: NCIT:C32123 xref: TAO:0005004 xref: UMLS:C0003489 {source="ncithesaurus:Aortic_Arch"} xref: VHOG:0000122 xref: Wikipedia:Aortic_arches xref: XAO:0000341 xref: ZFA:0005004 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0002050 ! embryonic structure is_a: UBERON:0003469 ! respiratory system artery relationship: part_of UBERON:0000033 ! head relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0002539 ! pharyngeal arch property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/8/84/Gray473.png xsd:anyURI property_value: external_definition "Paired vessels arching from the ventral to the dorsal aorta through the pharyngeal arches. [TFD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000122", ontology="VHOG", source="http://bgee.unil.ch/", source="http://medical-dictionary.thefreedictionary.com/aortic+arches"} property_value: homology_notes "When vertebrates first appeared, they must have possessed a ventral and dorsal aorta with aortic arches between them.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000122", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.620", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "add specific artery derivatives" xsd:string property_value: IAO:0000232 "Do not confuse with arch of aorta." xsd:string property_value: taxon_notes "Number varies - Lampreys have 8, hagfishes 15; only up to 6 appear in embryonic development in most gnathostome fishes and all tetrapods" xsd:string property_value: UBPROP:0000011 "The third, fourth, and sixth arches, along with the seventh intersegmental arteries and the left dorsal aorta, are the primary contributors to the normal aortic arch and its major thoracic branches" xsd:string [Term] id: UBERON:0004454 name: tarsal region namespace: uberon alt_id: UBERON:0002388 def: "Mesopodial segment of the pes, including the tarsal skeleton and associated tissues." [https://orcid.org/0000-0002-6601-2165, Wikipedia:Ankle] subset: efo_slim subset: pheno_slim subset: uberon_slim synonym: "ankle" EXACT [MA:0000043] synonym: "ankle region" EXACT [] synonym: "articulatio talocruralis" RELATED LATIN [Wikipedia:Ankle] synonym: "hind basipodium" RELATED [MA:th] synonym: "hind mesopodium" RELATED [MA:th] synonym: "hock" RELATED SENSU [Wikipedia:Hock_(anatomy)] synonym: "tarsal limb segment" EXACT [] xref: CALOHA:TS-2219 xref: EFO:0001409 xref: EMAPA:32783 xref: FMA:9665 xref: GAID:41 xref: galen:Ankle xref: MA:0000043 xref: MESH:D000842 xref: SCTID:361292008 xref: Wikipedia:Ankle is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000026 ! appendage relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0002101 ! limb relationship: part_of UBERON:0002103 ! hindlimb relationship: part_of UBERON:0002387 ! pes property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/b/bf/Ankle_en.svg xsd:anyURI property_value: IAO:0000232 "this term refers to the limb segment. See also: tarsal bones and tarsal skeleton" xsd:string property_value: UBPROP:0000012 "MA has both tarsus (part of foot, has tarsal bone) and ankle (part of hindlimb, has joint, nerve, skin)." xsd:string {external_ontology="MA"} [Term] id: UBERON:0004535 name: cardiovascular system namespace: uberon def: "Anatomical system that has as its parts the heart and blood vessels." [BTO:0000088] subset: efo_slim subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "CV system" RELATED [BTO:0000088] synonym: "Herz und Gefaesssystem" RELATED [BTO:0000088] xref: AAO:0011001 xref: BILA:0000016 xref: BTO:0000088 xref: CALOHA:TS-1297 xref: EFO:0000791 xref: EHDAA2:0000216 xref: EHDAA:394 xref: EMAPA:16104 xref: EMAPA:16370 xref: EV:0100017 xref: FMA:7161 xref: GAID:467 xref: MA:0000010 xref: MAT:0000016 xref: MESH:D002319 xref: MIAA:0000016 xref: NCIT:C12686 xref: SCTID:278198007 xref: TAO:0000010 xref: UMLS:C0007226 {source="ncithesaurus:Cardiovascular_System"} xref: VHOG:0000302 xref: WikipediaCategory:Cardiovascular_system xref: XAO:0000100 xref: XAO:0001010 xref: ZFA:0000010 is_a: UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001009 ! circulatory system property_value: homology_notes "The vessels of the cardiovascular system are as varied as the diverse organs they supply. However, these variations are based on modifications of a fundamental plan of organization common to vertebrates.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000302", ontology="VHOG", source="ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.451", source="http://bgee.unil.ch/"} property_value: IAO:0000232 "we treat cardiovascular as part of circulatory system, with the latter including other kinds of circulation, including lymph." xsd:string [Term] id: UBERON:0004639 name: renal afferent arteriole namespace: uberon def: "The blood vessels that branch from the kidney interlobular artery, convey blood to the glomerular capillaries, and play an important role in the regulation of blood pressure as a part of the tubuloglomerular feedback mechanism." [ISBN:0-683-40008-8, MGI:csmith, MP:0011312] subset: human_reference_atlas subset: pheno_slim subset: vertebrate_core synonym: "afferent arteriole" EXACT [MA:0002579] synonym: "afferent glomerular arteriole" EXACT [ZFA:0005307] synonym: "afferent glomerular arteriole of kidney" EXACT [FMA:77042] synonym: "arteriola glomerularis afferens" RELATED LATIN [Wikipedia:Afferent_arterioles] synonym: "arteriola glomerularis afferens renis" EXACT LATIN [FMA:77042, FMA:TA] synonym: "kidney afferent arteriole" EXACT [MP:0011312] xref: EMAPA:28230 xref: EMAPA:28266 xref: FMA:77042 xref: MA:0002579 xref: SCTID:67498004 xref: TAO:0002139 xref: Wikipedia:Afferent_arterioles xref: ZFA:0005307 is_a: UBERON:0001637 ! artery relationship: part_of UBERON:0000916 ! abdomen relationship: part_of UBERON:0001225 ! cortex of kidney relationship: part_of UBERON:0002049 ! vasculature relationship: part_of UBERON:0002100 ! trunk relationship: part_of UBERON:0002113 ! kidney property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/0/02/Gray1128.png xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0004640 name: renal efferent arteriole namespace: uberon def: "The blood vessels that convey blood from the glomerulocapillary network to the capillary bed of the proximal convoluted tubule." [ISBN:0-683-40008-8, MGI:csmith, MP:0011313] subset: human_reference_atlas subset: pheno_slim subset: vertebrate_core synonym: "arteriola glomerularis efferens capsulae renalis" RELATED LATIN [Wikipedia:Efferent_arteriole] synonym: "arteriola glomerularis efferens renis" EXACT LATIN [FMA:77043, FMA:TA] synonym: "efferent arteriole" EXACT [MA:0002585] synonym: "efferent glomerular arteriole" EXACT [ZFA:0005308] synonym: "efferent glomerular arteriole of kidney" EXACT [FMA:77043] synonym: "kidney efferent arteriole" EXACT [MP:0011313] xref: EMAPA:28233 xref: EMAPA:28275 xref: FMA:77043 xref: MA:0002585 xref: SCTID:29926005 xref: TAO:0002140 xref: Wikipedia:Efferent_arteriole xref: ZFA:0005308 is_a: UBERON:0001981 ! blood vessel relationship: part_of UBERON:0000916 ! abdomen relationship: part_of UBERON:0001225 ! cortex of kidney relationship: part_of UBERON:0002049 ! vasculature relationship: part_of UBERON:0002100 ! trunk relationship: part_of UBERON:0002113 ! kidney property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/0/02/Gray1128.png xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0004647 name: liver lobule namespace: uberon def: "The polygonal structure of the liver that consists of hepatocytes radiating outward from a hepatic vein." [ISBN:0-683-40008-8, MP:0008987] subset: human_reference_atlas subset: pheno_slim synonym: "hepatic lobule" EXACT [FMA:14471] synonym: "lobules of liver" RELATED PLURAL [Wikipedia:Lobules_of_liver] synonym: "lobuli hepatici" EXACT PLURAL [] synonym: "lobuli hepatis" RELATED LATIN [Wikipedia:Lobules_of_liver] synonym: "lobulus hepaticus" EXACT LATIN [FMA:14471] xref: EMAPA:35499 xref: FMA:14471 xref: MA:0002494 xref: NCIT:C32732 xref: SCTID:362194004 xref: UMLS:C0227518 {source="ncithesaurus:Hepatic_Lobule"} xref: Wikipedia:Lobules_of_liver is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0002107 ! liver property_value: IAO:0000232 "should not be confused with the anatomic lobes of the liver (caudate lobe, quadrate lobe, left lobe, and right lobe), or any of the functional lobe classification systems.[WP]" xsd:string property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0004648 name: esophagus muscularis mucosa namespace: uberon def: "A muscularis mucosa that is part of a esophagus." [OBOL:automatic] synonym: "esophagus muscularis" RELATED [] synonym: "esophagus muscularis mucosae" EXACT [] synonym: "lamina muscularis mucosae (oesphagus)" EXACT LATIN [FMA:63059, FMA:TA] synonym: "lamina muscularis of esophageal mucous membrane" EXACT [FMA:63059] synonym: "muscularis mucosae of esophagus" EXACT [FMA:63059] xref: EMAPA:26989 xref: FMA:63059 xref: MA:0002681 xref: NCIT:C32540 xref: SCTID:47720007 xref: UMLS:C0227177 {source="ncithesaurus:Esophageal_Muscularis_Mucosa"} is_a: UBERON:0002112 ! smooth muscle of esophagus is_a: UBERON:0006676 ! muscularis mucosa intersection_of: UBERON:0006676 ! muscularis mucosa intersection_of: part_of UBERON:0001043 ! esophagus relationship: part_of UBERON:0001043 ! esophagus relationship: part_of UBERON:0002469 ! esophagus mucosa [Term] id: UBERON:0004707 name: pharyngula stage namespace: uberon def: "A stage that follows the blastula, gastrula and neurula stages. At the pharyngula stage, all vertebrate embryos show remarkable similarities." [Wikipedia:Pharyngula] subset: efo_slim synonym: "pharyngula" RELATED [] synonym: "phylotypic stage" EXACT [] xref: DrerDO:0000052 xref: EFO:0001310 xref: OGES:000006 xref: Wikipedia:Pharyngula xref: ZFS:0000050 is_a: EFO:0000399 ! developmental stage property_value: taxon_notes "Corresponds to E7-E11 in Mouse (Galis et al, TREE, 2001)" xsd:string [Term] id: UBERON:0004726 name: vasa recta namespace: uberon def: "In the blood supply of the kidney, the vasa recta renis (or straight arteries of kidney, or straight arterioles of kidney) form a series of straight capillaries in the medulla. They lie parallel to the loop of Henle. These vessels branch off the efferent arterioles of juxtamedullary nephrons (those nephrons closest to the medulla), enter the medulla, and surround the loop of Henle." [Wikipedia:Vasa_recta] subset: human_reference_atlas subset: pheno_slim synonym: "arteria recta" RELATED [Wikipedia:Vasa_recta] synonym: "arteriae rectae" RELATED [Wikipedia:Vasa_recta] synonym: "arteriolae rectae renis" EXACT LATIN [FMA:72006, FMA:TA] synonym: "arteriolae rectae renis" RELATED LATIN [Wikipedia:Vasa_recta] synonym: "arteriolae recti" RELATED [Wikipedia:Vasa_recta] synonym: "kidney vasa recta" EXACT [MP:0011324] synonym: "renal medullary capillary" EXACT [EMAPA:30043] synonym: "set of straight arterioles of kidney" EXACT [FMA:72006] synonym: "straight arterioles of kidney" EXACT [FMA:72006] synonym: "vasa recta of kidney" EXACT [FMA:72006] synonym: "vasa recta renis" EXACT LATIN [FMA:72006, FMA:TA] synonym: "vasa rectae" RELATED [Wikipedia:Vasa_recta] xref: EMAPA:30043 xref: FMA:72006 xref: galen:ArteriaeRectae xref: MA:0002595 xref: Wikipedia:Vasa_recta is_a: UBERON:0001638 ! vein relationship: part_of UBERON:0004200 ! kidney pyramid property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/2/21/Kidney_nephron.png xsd:anyURI property_value: IAO:0000116 "TODO - is this a vein or set of veins? in MA it is a venous blood vessel" xsd:string property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0004740 name: basibranchial bone namespace: uberon def: "A basibranchial element that is bone. Basibranchial elements are ventral, median, and associated with a single pharyngeal arch in the pharyngeal arch 3-7 skeleton." [http://orcid.org/0000-0002-6601-2165, TAO:wd] subset: efo_slim synonym: "basibranchial bone" EXACT [TAO:0000170] synonym: "basibranchial bones" EXACT PLURAL [] synonym: "copula 1 bone" RELATED [] synonym: "copula I bone" RELATED [] xref: AAO:0000686 xref: EFO:0003503 xref: TAO:0000170 xref: ZFA:0000170 is_a: UBERON:0001474 ! bone element relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001434 ! skeletal system property_value: axiom_lost_from_external_ontology "relationship loss: develops_from copula (TAO:0001220)[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000170", ontology="TAO"} property_value: axiom_lost_from_external_ontology "relationship loss: part_of hyoid apparatus skeleton (AAO:0000682)[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000686", ontology="AAO"} property_value: axiom_lost_from_external_ontology "relationship loss: subclass basibranchial element (TAO:0001914)[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000170", ontology="TAO"} property_value: external_definition "Medial element to which other parts of the hyoid apparatus are attached.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000686", ontology="AAO", source="AAO:Duellman_and_Trueb_1994"} property_value: external_definition "Replacement bone that is ventral, median, and associated with a single pharyngeal arch in the pharyngeal arch 3-7 skeleton.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000170", ontology="TAO", source="ZFIN:curator"} [Term] id: UBERON:0004741 name: cleithrum namespace: uberon def: "Dermal bone on the margin of the scapula. The cleithrum is attached to the skull in fishes, but free from the latter in amphibians and disappears early in the evolution of reptiles." [VSAO:0000187, Wikipedia:Cleithrum] subset: efo_slim synonym: "cleithra" EXACT PLURAL [ZFA:0000184] synonym: "cleithrum bone" EXACT PLURAL [] xref: AAO:0000750 xref: EFO:0003507 xref: TAO:0000184 xref: VSAO:0000187 xref: Wikipedia:Cleithrum xref: ZFA:0000184 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001474 ! bone element relationship: never_in_taxon NCBITaxon:40674 {source="Wikipedia"} relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001434 ! skeletal system relationship: part_of UBERON:0002091 ! appendicular skeleton property_value: axiom_lost_from_external_ontology "relationship loss: part_of scapular area (AAO:0000935)[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000750", ontology="AAO"} property_value: external_definition "Dermal bone that articulates dorsally with the supracleithrum and ventro-medially with the scapula and coracoid and mesocoracoid bone when the last bone is present. With the posttemporal and supracleithrum, the cleithrum supports the primary pectoral girdle. The cleithrum is located immediately behind the branchial cavity.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000184", ontology="TAO", source="TAO:wd"} property_value: external_definition "Paired bones of intramembranous origin. Each cleithrum extends medially from a point near the suprascapular-scapular articulation to invest the anterior margin of the suprascapula, and occasionoally it may extend to the dorsal (medial) surface. Usually, this bone is bifurcate.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000750", ontology="AAO", source="AAO:LAP"} property_value: taxon_notes "Found in some early members of Chelonia (e.g. Triassochelys), but missing in all later forms." xsd:string {source="VSAO"} property_value: UBPROP:0000005 "Commonly, the cleithrum is a large, well-ossified bone provided with a dorsal and a ventral arm that form an angle of about 90 or a few more degrees. The dorsal arm may end in a sharp or spine-like process to articulate with the supracleithrum. At the confluence of both arms the bone presents a blade extending postero-ventrally and that may have different development among fishes. The anterior edge of the cleithrum is usually thick and may produce a medial plate of different degrees of development.[TAO]" xsd:string {date_retrieved="2012-09-06", external_class="TAO:0000184", ontology="TAO", source="Curator"} [Term] id: UBERON:0004742 name: dentary namespace: uberon def: "The dentary is a dermal bone that forms the antero-lateral part of the lower jaw in fishes and amphibians, extending to the whole lower jaw in mammals[VHOG,modified]." [VHOG:0001022] subset: efo_slim synonym: "dentale" RELATED [AAO:0000124] synonym: "dentaries" EXACT PLURAL [TAO:0000191] synonym: "dentary bone" EXACT [ZFA:0000191] synonym: "os dentale" RELATED [AAO:0000124] synonym: "sur-angulaire" RELATED [AAO:0000124] xref: AAO:0000124 xref: EFO:0003508 xref: http://palaeos.com/vertebrates/bones/dermal/images/Dentary1.gif xref: TAO:0000191 xref: VHOG:0001022 xref: ZFA:0000191 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001474 ! bone element relationship: part_of UBERON:0000033 ! head relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001007 ! digestive system relationship: part_of UBERON:0001434 ! skeletal system property_value: axiom_lost_from_external_ontology "relationship loss: overlaps dentary-anguloarticular joint (TAO:0001749)[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000191", ontology="TAO"} property_value: external_definition "Dermal bone that is usually the anteriormost bone of the lower jaw, and that articulates with the angular, or anguloarticular bone, posteriorly, and carries part of the mandibular sensory canal and pore openings of the mandibular sensory canal on its lateral surface. The dentary is a paired bone.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000191", ontology="TAO", source="TAO:GA_TG"} property_value: external_definition "Ossified element of intramembranous origin that invests the lateral margin of Meckel's cartilage thereby forming the lateral side of the mandible in anurans and salamanders (Duellman & Trueb, 1994:293). In caecilians, the dentary is part of a compound bone termed the pseudodentary.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000124", ontology="AAO", source="AAO:LAP"} property_value: external_definition "The dentary is a dermal bone that forms the antero-lateral part of the lower jaw in fishes and amphibians. In mammals the lower jaw consists entirely of the dentary bone. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Grande_L, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF, ZFA:0000191_and_Liem_KF, p.248][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001022", ontology="VHOG", source="http://bgee.unil.ch/"} property_value: homology_notes "Of all these bones [dentary, splenials, coronoids, angular, surangular and prearticular], only the dentary remains in the lower jaw of a mammal.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001022", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.248", source="http://bgee.unil.ch/"} property_value: taxon_notes "In lobe-finned fishes and the early fossil tetrapods, the bone homologous to the mandible of mammals is merely the largest of several bones in the lower jaw. In such animals, it is referred to as the dentary bone, and forms the body of the outer surface of the jaw. It is bordered below by a number of splenial bones, while the angle of the jaw is formed by a lower angular bone and a suprangular bone just above it. The inner surface of the jaw is lined by a prearticular bone, while the articular bone forms the articulation with the skull proper. Finally a set of three narrow coronoid bones lie above the prearticular bone. As the name implies, the majority of the teeth are attached to the dentary, but there are commonly also teeth on the coronoid bones, and sometimes on the prearticular as well. This complex primitive pattern has, however, been simplified to various degrees in the great majority of vertebrates, as bones have either fused or vanished entirely. In teleosts, only the dentary, articular, and angular bones remain, while in living amphibians, the dentary is accompanied only by the prearticular, and, in salamanders, one of the coronoids. The lower jaw of reptiles has only a single coronoid and splenial, but retains all the other primitive bones except the prearticular." xsd:string [Term] id: UBERON:0004744 name: articular/anguloarticular namespace: uberon def: "." [https://github.com/obophenotype/uberon/issues/98, Wikipedia:Articular] subset: efo_slim synonym: "angulaire" RELATED [AAO:0000028] synonym: "angulare" RELATED [AAO:0000028] synonym: "angulo-articular" EXACT [TAO:0000467] synonym: "anguloarticular" EXACT [ZFA:0000467] synonym: "anguloarticular - malleus" EXACT [VHOG:0000690] synonym: "articular" BROAD [ZFA:0000467] synonym: "dermarticulare" RELATED [AAO:0000028] synonym: "goniale" RELATED [AAO:0000028] synonym: "operculo angulaire" RELATED [AAO:0000028] xref: AAO:0000028 xref: EFO:0003530 xref: TAO:0000467 xref: VHOG:0000690 xref: Wikipedia:Articular xref: ZFA:0000467 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001474 ! bone element relationship: part_of UBERON:0000033 ! head relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001007 ! digestive system relationship: part_of UBERON:0001434 ! skeletal system property_value: axiom_lost_from_external_ontology "relationship loss: develops_from articular bone (TAO:0001805)[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000467", ontology="TAO"} property_value: axiom_lost_from_external_ontology "relationship loss: overlaps dentary-anguloarticular joint (TAO:0001749)[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000467", ontology="TAO"} property_value: external_definition "Dermal and endochondral compound bone that results from the fusion of the dermal angular and the endochondral articular and forms the posterior part of the lower jaw. It articulates with the dentary anteriorly and with the retroarticular postero-medially. The anguloarticular is paired.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000467", ontology="TAO", source="ZFIN:curator"} property_value: external_definition "Endochondral ossification of the posterior articular part of Meckel's cartilage.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000028", ontology="AAO", source="AAO:LAP"} property_value: homology_notes "According to this theory (Reichert-Gaupp theory), the mammalian stapes is derived from the reptilian columella, the incus from the quadrate and the malleus from the articular (...).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000690", ontology="VHOG", source="DOI:10.1017/S0022215100009087 Gerrie J, The phylogeny of the mammalian tympanic cavity and auditory ossicles. The Journal of Laryngology and Otology (1948", source="http://bgee.unil.ch/"} property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/alex-dececchi property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/cmungall property_value: IAO:0000116 "TODO - resolve part_of relationships" xsd:string property_value: UBPROP:0000005 "The presence of an anguloarticular is interpreted as a synapomorphy of the Clupeocephala (Patterson and Rosen, 1977; Arratia, 1999).[TAO]" xsd:string {date_retrieved="2012-09-06", external_class="TAO:0000467", ontology="TAO", source="Curator"} property_value: UBPROP:0000012 "TAO has a distinct class for articular - in fact we need (at least) 3 classes here - articular, anguloarticular and malleus, arranged into a single VHOG group" xsd:string {external_ontology="TAO"} [Term] id: UBERON:0004746 name: prootic bone namespace: uberon def: "Paired, endochondral bones forming the anterior, and lateral walls of the otic capsules." [AAO:0000514] subset: efo_slim synonym: "prootic" EXACT [AAO:0000514] synonym: "prootics" RELATED PLURAL [TAO:0000575] xref: AAO:0000514 xref: EFO:0003542 xref: TAO:0000575 xref: ZFA:0000575 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001474 ! bone element relationship: part_of UBERON:0000033 ! head relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001434 ! skeletal system relationship: part_of UBERON:0003128 ! cranium property_value: axiom_lost_from_external_ontology "relationship loss: develops_from basal plate cartilage (TAO:0001425)[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000575", ontology="TAO"} property_value: axiom_lost_from_external_ontology "relationship loss: overlaps orbitosphenoid-prootic joint (TAO:0001794)[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000575", ontology="TAO"} property_value: axiom_lost_from_external_ontology "relationship loss: overlaps prootic-exoccipital joint (TAO:0002034)[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000575", ontology="TAO"} property_value: axiom_lost_from_external_ontology "relationship loss: overlaps prootic-pterosphenoid joint (TAO:0002033)[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000575", ontology="TAO"} property_value: axiom_lost_from_external_ontology "relationship type change: overlaps neurocranium (TAO:0001580) CHANGED TO: develops_from neurocranium (UBERON:0001703)[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000575", ontology="TAO"} property_value: axiom_lost_from_external_ontology "relationship type change: overlaps neurocranium (TAO:0001580) CHANGED TO: part_of neurocranium (UBERON:0001703)[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000575", ontology="TAO"} property_value: external_definition "Endochondral bone that sutures with the pterosphenoid anteriorly, the sphenotic and pterotic dorsally, the parasphenoid ventrally, the basioccipital postero-ventrally, the exoccipital posteriorly, and occasionally, with the intercalar posteriorly. The dorsal edge of the prootic contributes to the hyomandibular facet. The prootic bears foramina that accommodate branches of the trigeminal and facial nerves. The prootic is a paired bone.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000575", ontology="TAO", source="TAO:GA_TG"} [Term] id: UBERON:0004770 name: articular system namespace: uberon def: "Anatomical system that consists of all the joints of the body." [VSAO:0000181] synonym: "joint system" EXACT [FMA:23878] synonym: "set of all joints" RELATED [] synonym: "set of all joints of body" EXACT [FMA:23878] synonym: "set of joints of body" RELATED [FMA:23878] xref: EMAPA:35150 xref: FMA:23878 xref: MA:0003007 xref: SCTID:361827000 xref: VSAO:0000181 is_a: EFO:0003858 ! skeleton structure relationship: part_of UBERON:0001434 ! skeletal system [Term] id: UBERON:0004801 name: cervix epithelium namespace: uberon def: "An epithelium that is part of a uterine cervix [Automatically generated definition]." [OBOL:automatic] subset: efo_slim subset: human_reference_atlas subset: pheno_slim synonym: "cervical canal epithelial tissue" EXACT [OBOL:automatic] synonym: "cervical canal epithelium" EXACT [OBOL:automatic] synonym: "cervical epithelium" EXACT [BTO:0000241] synonym: "cervix epithelial tissue" EXACT [OBOL:automatic] synonym: "epithelium of cervix" EXACT [OBOL:automatic] xref: BTO:0000241 xref: CALOHA:TS-0137 xref: EFO:0001913 xref: EMAPA:29929 xref: MA:0001724 xref: NCIT:C49218 xref: UMLS:C1711358 {source="ncithesaurus:Cervix_Epithelium"} is_a: UBERON:0000483 ! epithelium intersection_of: UBERON:0000483 ! epithelium intersection_of: part_of UBERON:0000002 ! uterine cervix relationship: part_of UBERON:0000002 ! uterine cervix relationship: part_of UBERON:0000990 ! reproductive system relationship: part_of UBERON:0000993 ! oviduct relationship: part_of UBERON:0000995 ! uterus relationship: part_of UBERON:0003889 ! fallopian tube property_value: RO:0002175 NCBITaxon:9606 property_value: UBPROP:0000010 "The epithelium of the cervix is varied. The ectocervix (more distal, by the vagina) is composed of nonkeratinized stratified squamous epithelium. The endocervix (more proximal, within the uterus) is composed of simple columnar epithelium" xsd:string {source="Wikipedia:Cervix#Histology"} [Term] id: UBERON:0004851 name: aorta endothelium namespace: uberon def: "The thin layer of flat cells that line the aorta and form a barrier between circulating blood in the lumen and the rest of the vessel wall." [MGI:csmith, MP:0009864] subset: efo_slim subset: pheno_slim synonym: "adult aorta endothelium" EXACT [OBOL:automatic] synonym: "aortic endothelium" RELATED [BTO:0000394] synonym: "endothelium of adult aorta" EXACT [OBOL:automatic] synonym: "endothelium of aorta" EXACT [OBOL:automatic] synonym: "endothelium of trunk of aortic tree" EXACT [OBOL:automatic] synonym: "endothelium of trunk of systemic arterial tree" EXACT [OBOL:automatic] synonym: "trunk of aortic tree endothelium" EXACT [OBOL:automatic] synonym: "trunk of systemic arterial tree endothelium" EXACT [OBOL:automatic] xref: BTO:0000394 xref: CALOHA:TS-0047 xref: EFO:0002597 xref: EMAPA:35134 xref: MA:0000701 xref: NCIT:C49190 xref: UMLS:C1706824 {source="ncithesaurus:Aorta_Endothelium"} is_a: UBERON:0001986 ! endothelium intersection_of: UBERON:0001986 ! endothelium intersection_of: part_of UBERON:0000947 ! aorta relationship: part_of UBERON:0000947 ! aorta relationship: part_of UBERON:0001981 ! blood vessel relationship: part_of UBERON:0004535 ! cardiovascular system [Term] id: UBERON:0004880 name: chordamesoderm namespace: uberon def: "The central region of trunk mesoderm. This tissue forms the notochord." [https://orcid.org/0000-0002-6601-2165] subset: efo_slim subset: pheno_slim synonym: "axial chorda mesoderm" EXACT [ZFA:0000091] synonym: "chorda mesoderm" EXACT [] synonym: "dorsal mesoderm" EXACT [https://github.com/obophenotype/uberon/wiki/The-neural-crest] synonym: "presumptive notochord" EXACT [ZFA:0000091] xref: AAO:0000478 xref: EFO:0003426 xref: TAO:0000091 xref: ZFA:0000091 is_a: EFO:0003332 ! zebrafish embryonic structure is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0003068 ! axial mesoderm property_value: external_definition "Notochord rudiment[ZFIN:ZDB-PUB-961014-576]." xsd:string {source="ZFIN:ZDB-PUB-961014-576"} property_value: UBPROP:0000012 "WP treats this as synonym of axial mesoderm. Induces neural tube. Gilbert: contains an anterior head process and the notochord." xsd:string [Term] id: UBERON:0004905 name: articulation namespace: uberon def: "Anatomical structure that connects two or more adjacent skeletal elements or hardened body parts." [http://orcid.org/0000-0002-6601-2165] subset: grouping_class synonym: "joint" NARROW [] xref: FBbt:00005811 is_a: EFO:0003858 ! skeleton structure relationship: part_of UBERON:0004770 ! articular system [Term] id: UBERON:0004908 name: upper digestive tract namespace: uberon def: "The region of the digestive tract extending from the mouth cavity through pharynx esophagus stomach and duodenum." [Wikipedia:Alimentary_canal#Upper_gastrointestinal_tract] subset: uberon_slim synonym: "upper gastrointestinal tract" EXACT [] synonym: "upper GI tract" EXACT [] xref: FMA:49177 xref: galen:UpperGastrointestinalTract xref: NCIT:C33837 xref: SCTID:181244000 xref: UMLS:C0226874 {source="ncithesaurus:Upper_Gastrointestinal_Tract"} xref: Wikipedia:Alimentary_canal#Upper_gastrointestinal_tract is_a: UBERON:0000061 ! anatomical structure property_value: UBPROP:0000012 "WP: small intestine, large intestine, anus. Anal canal not part of LGIT according to FMA, but anus is considered part of LGIT according to WP. Duodenum overlaps both U/L. In Galen, entire GI tract excludes esophagus" xsd:string {external_ontology="FMA"} [Term] id: UBERON:0004913 name: hepatopancreatic ampulla namespace: uberon def: "A dilation of the duodenal papilla that is the opening of the juncture of the common bile duct and the main pancreatic duct." [Wikipedia:Ampulla_of_Vater] subset: human_reference_atlas subset: vertebrate_core synonym: "ampulla biliaropancreatica" EXACT LATIN [FMA:15076, FMA:TA] synonym: "ampulla hepatopancreatica" RELATED LATIN [Wikipedia:Ampulla_of_Vater] synonym: "ampulla of bile duct" EXACT [FMA:15076] synonym: "ampulla of Vater" EXACT [] synonym: "ampulla Vaterii" RELATED LATIN [Wikipedia:Ampulla_of_Vater] synonym: "biliaropancreatic ampulla" EXACT [] synonym: "papilla duodeni major" RELATED [ZFA:0005167] synonym: "papilla Vateri" EXACT [ZFA:0005167] synonym: "Vater's ampulla" EXACT [] xref: CALOHA:TS-2348 xref: FMA:15076 xref: GAID:283 xref: galen:AmpullaOfVater xref: MESH:D014670 xref: NCIT:C13011 xref: SCTID:362200007 xref: TAO:0005167 xref: UMLS:C0042425 {source="ncithesaurus:Ampulla_of_Vater"} xref: Wikipedia:Ampulla_of_Vater xref: ZFA:0005167 is_a: EFO:0003861 ! pancreactic component is_a: UBERON:0002394 ! bile duct relationship: part_of UBERON:0001174 ! common bile duct relationship: part_of UBERON:0001264 ! pancreas property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/1/1e/Biliary_system_new.svg xsd:anyURI property_value: external_definition "Ampulla formed by the union of the pancreatic duct and the common bile duct where they enter the intestine.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0005167", ontology="TAO", source="ZFIN:ZDB-PUB-070212-11", source="ZFIN:ZDB-PUB-080414-12"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0005020 name: mucosa of tongue namespace: uberon def: "A mucosa that is part of a tongue [Automatically generated definition]." [OBOL:automatic] subset: efo_slim synonym: "lingual mucosa" EXACT [FMA:54807] synonym: "mucosa of organ of tongue" EXACT [OBOL:automatic] synonym: "mucous membrane of tongue" EXACT [OBOL:automatic] synonym: "organ mucosa of tongue" EXACT [OBOL:automatic] synonym: "tongue mucosa" EXACT [OBOL:automatic] synonym: "tongue mucosa of organ" EXACT [OBOL:automatic] synonym: "tongue mucous membrane" EXACT [OBOL:automatic] synonym: "tongue organ mucosa" EXACT [OBOL:automatic] synonym: "tunica mucosa linguae" EXACT LATIN [FMA:54807, FMA:TA] xref: EFO:0002553 xref: FMA:54807 xref: SCTID:362092002 is_a: EFO:0000792 ! craniofacial tissue is_a: UBERON:0003729 ! mouth mucosa intersection_of: UBERON:0000344 ! mucosa intersection_of: part_of UBERON:0001723 ! tongue relationship: part_of UBERON:0001723 ! tongue [Term] id: UBERON:0005068 name: neural rod namespace: uberon def: "A solid rod of neurectoderm derived from the neural keel. The neural rod is roughly circular in cross section. Neural rod formation occurs during primary neurulation in teleosts[GO]. An intermediate stage in the development of the central nervous system present during the segmentation period; the neural rod is roughly cylindrical in shape, forms from the neural keel, and is not yet hollowed out into the neural tube[ZFIN]." [GO:0014024, ZFA:0000133] subset: efo_slim synonym: "neural tube rod" RELATED [GO:0014027] xref: EFO:0003498 xref: TAO:0000133 xref: ZFA:0000133 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo property_value: external_definition "An intermediate stage in the development of the central nervous system present during the segmentation period; the neural rod is roughly cylindrical in shape, forms from the neural keel, and is not yet hollowed out into the neural tube. Kimmel et al, 1995.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000133", ontology="TAO", source="ZFIN:curator"} [Term] id: UBERON:0005096 name: descending thin limb namespace: uberon alt_id: UBERON:0005165 def: "The descending thin limb is a part of the loop of Henle situated just after the proximal straight tubule (S3). It extends to the tip of the loop of Henle[GO]." [GO:0072022, Wikipedia:Descending_limb_of_loop_of_Henle] subset: human_reference_atlas subset: uberon_slim synonym: "descending limb of Henle's loop" RELATED [Wikipedia:Descending_limb_of_loop_of_Henle] synonym: "descending limb of loop of Henle" RELATED [Wikipedia:Descending_limb_of_loop_of_Henle] synonym: "descending thin limb of loop of Henle" EXACT [] synonym: "loop of Henle descending thin limb" EXACT [] synonym: "loop of Henle thin descending limb" EXACT [MA:0002625] synonym: "pars descendens (tubulus attenuatus)" EXACT [FMA:17719] synonym: "thin descending limb" EXACT [] synonym: "thin descending limb of loop of Henle" RELATED [Wikipedia:Descending_limb_of_loop_of_Henle] synonym: "thin descending limb of the loop of Henle" RELATED [Wikipedia:Descending_limb_of_loop_of_Henle] synonym: "thin descending loop of Henle" RELATED [Wikipedia:Descending_limb_of_loop_of_Henle] xref: EMAPA:35514 xref: FMA:17719 xref: MA:0002625 xref: Wikipedia:Descending_limb_of_loop_of_Henle is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0001288 ! loop of Henle relationship: part_of UBERON:0001289 ! descending limb of loop of Henle property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/0/02/Gray1128.png xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 property_value: seeAlso https://github.com/obophenotype/uberon/issues/2276 xsd:string [Term] id: UBERON:0005097 name: renal connecting tubule namespace: uberon def: "The connecting tubule is a tubular segment of the nephron; it connects the distal convoluted tubule to the collecting duct[GO]." [GO:0072027, Wikipedia:Connecting_tubule] subset: human_reference_atlas synonym: "connecting tubule" EXACT [MA:0002610] synonym: "kidney connecting tubule" EXACT [MA:0002610] synonym: "tubulus renalis arcuatus" RELATED LATIN [Wikipedia:Connecting_tubule] xref: BTO:0004539 xref: EMAPA:27758 xref: EMAPA:27790 xref: EMAPA:28011 xref: MA:0002610 xref: Wikipedia:Connecting_tubule is_a: UBERON:0001231 ! nephron tubule relationship: part_of UBERON:0001225 ! cortex of kidney relationship: part_of UBERON:0001231 ! nephron tubule relationship: part_of UBERON:0001285 ! nephron property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/0/02/Gray1128.png xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0005170 name: granulosa cell layer namespace: uberon def: "A layer of the ovarian follicle that consists of granulosa cells." [http://orcid.org/0000-0002-6601-2165] subset: efo_slim subset: human_reference_atlas subset: vertebrate_core synonym: "granulosa cell layer" RELATED [TAO:0001112] synonym: "granulosa cell layer of ovarian follicle" EXACT [FMA:18660] synonym: "granulosa cell layers" RELATED PLURAL [ZFA:0001112] synonym: "membrana granulosa" BROAD [] synonym: "membrana granulosa of ovarian follicle" EXACT [FMA:18660] synonym: "ovary stratum granulosum" EXACT [MA:0001460] synonym: "stratum granulosum of ovarian follicle" EXACT [FMA:18660] xref: EFO:0003628 xref: EMAPA:35633 xref: FMA:18660 xref: MA:0001460 xref: SCTID:258971005 xref: TAO:0001112 xref: Wikipedia:Membrana_granulosa xref: ZFA:0001112 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0000483 ! epithelium relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000990 ! reproductive system relationship: part_of UBERON:0000991 ! gonad relationship: part_of UBERON:0000992 ! ovary property_value: RO:0002175 NCBITaxon:9606 property_value: UBPROP:0000010 "At one part of the mature follicle the cells of the membrana granulosa are collected into a mass which projects into the cavity of the follicle. This is termed the discus proligerus. [Wikipedia:Membrana_granulosa, Wikipedia:Membrana_granulosa]" xsd:string [Term] id: UBERON:0005253 name: head mesenchyme namespace: uberon def: "Portion of primordial embryonic connective tissue of the developing head, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells." [ISBN:0683400088, MP:0011260] subset: efo_slim subset: pheno_slim subset: vertebrate_core synonym: "cephalic mesenchyme" EXACT [MP:0011260] synonym: "cranial mesenchyme" RELATED [MGI:anna] synonym: "desmocranium" RELATED PENDING_REVIEW [FMA:76622] xref: EFO:0003492 xref: EHDAA2:0000732 xref: EHDAA:179 xref: EMAPA:16098 xref: EMAPA_RETIRED:16269 xref: FMA:76622 xref: TAO:0000113 xref: VHOG:0000332 xref: ZFA:0000113 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000033 ! head relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0002050 ! embryonic structure property_value: external_definition "Mesoderm that will give rise, along with cranial neural crest cells, to connective tissue, bone and musculature in the head. (Source: BioGlossary, www.Biology-Text.com)[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000113", ontology="TAO", source="ZFIN:curator"} [Term] id: UBERON:0005256 name: trunk mesenchyme namespace: uberon def: "Mesenchyme that is part of a developing trunk." [OBOL:automatic] subset: efo_slim subset: vertebrate_core synonym: "trunk and cervical mesenchyme" RELATED [EHDAA2:0002092] xref: EFO:0003485 xref: EHDAA2:0002092 xref: EHDAA:377 xref: EMAPA:16177 xref: TAO:0000081 xref: VHOG:0000281 xref: ZFA:0000081 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0002100 ! trunk [Term] id: UBERON:0005281 name: ventricular system of central nervous system namespace: uberon def: "A set of structures containing cerebrospinal fluid in the brain. It is continuous with the central canal of the spinal cord[WP]." [Wikipedia:Ventricular_system] subset: efo_slim subset: vertebrate_core synonym: "CNS ventricular system" EXACT [EHDAA2:0004362] synonym: "ventricle system" RELATED [Wikipedia:Ventricular_system] synonym: "ventricular system" EXACT [ZFA:0001261] synonym: "ventricular system of neuraxis" EXACT [FMA:242675] synonym: "ventriculi cerebri" RELATED LATIN [Wikipedia:Ventricular_system] xref: EFO:0003650 xref: EHDAA2:0004362 xref: EV:0100306 xref: FMA:242675 xref: MBA:73 xref: neuronames:2497 xref: TAO:0001261 xref: Wikipedia:Ventricular_system xref: ZFA:0001261 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001017 ! central nervous system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/7/7d/Gray734.png xsd:anyURI property_value: IAO:0000116 "TODO - resolve space vs structure conflation. We follow FMA in making this and the various ventricles a structure - it follows from this that strutures such as the tela choroidea and choroid plexuses can be part of the ventricles and ventricular system. Note: see also the class 'neuraxis cavity'" xsd:string [Term] id: UBERON:0005292 name: extraembryonic tissue namespace: uberon def: "Portion of tissue that is contiguous with the embryo and is comprised of portions of tissue or cells that will not contribute to the embryo." [https://orcid.org/0000-0002-6601-2165] subset: efo_slim synonym: "extra-embryonic tissue" EXACT [] xref: BTO:0003360 xref: CALOHA:TS-2119 xref: EFO:0001406 xref: MAT:0000061 xref: MIAA:0000061 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000468 ! multicellular organism [Term] id: UBERON:0005306 name: blastema namespace: uberon def: "A blastema is a mass of cells capable of growth and regeneration into organs or body parts. Historically blastema have been thought to be composed of undifferentiated pluripotent cells, but recent research indicates that in some organisms blastema may retain memory of tissue origin.[1] Blastemata are typically found in the early stages of an organism's development such as in embryos, and in the regeneration of tissues, organs and bone[WP]. A regenerating tissue composed of a proliferative mass of undifferentiated progenitor cells from which new differentiated structures arise[ZFA]." [Wikipedia:Blastema, ZFA:0001270, ZFIN:ZDB-PUB-061108-12] subset: efo_slim synonym: "blastemata" EXACT PLURAL [] synonym: "regeneration blastema" EXACT [ZFIN:ZDB-PUB-061108-12] xref: BTO:0001638 xref: EFO:0003658 xref: TAO:0001270 xref: Wikipedia:Blastema xref: XAO:0004060 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000468 ! multicellular organism property_value: UBPROP:0000012 "the ZFA class called 'blastema' belongs with the subclass, blastema of regenerating fin/limb" xsd:string {external_ontology="ZFA"} [Term] id: UBERON:0005363 name: inferior vagus X ganglion namespace: uberon def: "The large group of sensory neuron cell bodies, anterior to the jugular vein, associated with the vagus nerve (tenth cranial nerve)." [ISBN:0-683-40008-8, MP:0001087, PMID:9362461] subset: efo_slim subset: pheno_slim synonym: "ganglion inferius (nervus vagus)" EXACT [FMA:6230] synonym: "ganglion inferius nervi vagi" EXACT LATIN [Wikipedia:Inferior_ganglion_of_vagus_nerve] synonym: "ganglion inferius nervus vagi" EXACT LATIN [FMA:6230, FMA:TA] synonym: "ganglion nodosum" EXACT LATIN [Wikipedia:Inferior_ganglion_of_vagus_nerve] synonym: "inferior ganglion of vagus" EXACT [FMA:6230] synonym: "inferior ganglion of vagus nerve" EXACT [FMA:6230] synonym: "inferior vagus ganglion" RELATED [EMAPA:17155] synonym: "inferior vagus X" BROAD [EMAPA:17155] synonym: "nodose ganglia" RELATED PLURAL [] synonym: "nodose ganglion" EXACT [FMA:6230] synonym: "tenth cranial nerve nodose ganglion" EXACT [FMA:6230] synonym: "vagus nerve inferior ganglion" EXACT [FMA:6230] synonym: "vagus nerve nodose ganglion" EXACT [FMA:6230] synonym: "vagus X inferior ganglion" RELATED [VHOG:0000685] xref: EFO:0002516 xref: EHDAA2:0004622 xref: EMAPA:17155 xref: FMA:6230 xref: MA:0001082 xref: MESH:D009620 xref: SCTID:14420006 xref: VHOG:0000685 xref: Wikipedia:Inferior_ganglion_of_vagus_nerve is_a: UBERON:0001714 ! cranial ganglion property_value: homology_notes "These (the epibranchial placodes) are focal thickenings of the embryonic ectoderm that form immediately dorsal and caudal of the clefts between the pharyngeal arches in all vertebrates, and they produce the neuroblasts which migrate and condense to form the distal cranial ganglia: the geniculate, petrosal and nodose ganglia. (...) The one substantial difference between the vertebrate pharyngeal arches and those of the protochordates is the presence of the epibranchial placodes but the evolution of these structures was undoubtedly driven by the endoderm.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000685", ontology="VHOG", source="DOI:10.1046/j.1469-7580.2001.19910133.x Graham A. The development and evolution of the pharyngeal arches. J Anat (2001)", source="http://bgee.unil.ch/"} [Term] id: UBERON:0005366 name: olfactory lobe namespace: uberon def: "The lobe at the anterior part of each cerebral hemisphere, responsible for olfactory functions." [UBERON:cjm] subset: efo_slim subset: pheno_slim xref: BTO:0001362 xref: EFO:0000108 xref: EHDAA2_RETIRED:0001294 xref: EHDAA:5480 xref: EMAPA:17778 xref: MA:0002413 xref: MIAA:0000116 xref: NCIT:C33204 xref: neuronames:2078 xref: UMLS:C0178780 {source="ncithesaurus:Olfactory_Lobe"} xref: VHOG:0000833 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0001869 ! cerebral hemisphere relationship: part_of UBERON:0001893 ! telencephalon property_value: external_definition "Part of the telencephalon, comprised of paired anterior outgrowths of either of the cerebral hemispheres in which the olfactory nerve exits. In Xenopus,the olfactory bulbs begin to fuse at NF stage 50, fusion is complete around NF stage 58. The cerebral vein loops around the olfactory bulb by NF stage 43[XAO:0004180]." xsd:string {source="XAO:0004180"} property_value: homology_notes "(In mammals) Odorant detection is mediated by millions of olfactory sensory neurons located in the olfactory epithelium lining the nasal cavity. These neurons transmit sensory signals to the olfactory bulb of the brain, which in turn sends signals to the olfactory cortex.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000833", ontology="VHOG", source="DOI:10.1111/j.1753-4887.2004.tb00097.x Buck LB, Olfactory receptors and odor coding in mammals. Nutrition Reviews (2008)", source="http://bgee.unil.ch/"} [Term] id: UBERON:0005383 name: caudate-putamen namespace: uberon def: "Regional part of telencephalon in some species, e.g., rodent, equivalent to the dorsal striatum (caudate nucleus and putamen). Unlike the dorsal striatum of primates, for example, the caudoputamen is not split into separate nuclei by the fibers of the internal capsule. Rather, the internal capsule splits into fiber bundles which course through the structure." [NLXANAT:100312] subset: efo_slim subset: pheno_slim synonym: "caudate putamen" EXACT [] synonym: "caudate putamen" RELATED [NLXANAT:100312] synonym: "caudate putamen (striatum)" RELATED [BAMS:CPu] synonym: "caudate-putamen" RELATED [NLXANAT:100312] synonym: "caudateputamen" EXACT [NLXANAT:100312] synonym: "caudateputamen" RELATED [NLXANAT:100312] synonym: "caudoputamen" EXACT [NLXANAT:100312] synonym: "dorsal striatum" RELATED [NLXANAT:100312] synonym: "neostriatum" RELATED [NLXANAT:100312] synonym: "striatum" RELATED [NLXANAT:100312] xref: BAMS:CP xref: BAMS:CPu xref: BM:Tel-C-Pu xref: BTO:0000212 xref: EFO:0001912 xref: EMAPA:19095 xref: MA:0000893 xref: MBA:672 xref: NLXANAT:100312 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0001017 ! central nervous system property_value: IAO:0000116 "check - rodents. The caudate nucleus and putamen are separated by a clear white matter bundle in most species but not in rodents (MM)" xsd:string property_value: IAO:0000116 "we do not currently place rodent-specific taxon constraints here as this would cause taxon violations. There is an argument for merging this into dorsal striatum and treating the distinction as phenotypic" xsd:string property_value: UBPROP:0000011 "In the human, histologically the caudate nucleus and putamen are identically and share a common embryological origin[ISBN:0123813611]" xsd:string [Term] id: UBERON:0005396 name: carotid artery segment namespace: uberon def: "One of: the common carotid artery, or its branches, the external and internal carotid arteries." [https://sourceforge.net/tracker/?func=detail&aid=3486870&group_id=76834&atid=994764, Wikipedia:Carotid_artery] subset: efo_slim subset: grouping_class subset: pheno_slim subset: vertebrate_core synonym: "carotid" EXACT [AAO:0010217] synonym: "carotid artery" EXACT [MA:0001925] synonym: "common carotid arterial subdivision" RELATED [FMA:70504] synonym: "subdivision of common carotid artery" EXACT [FMA:70504] xref: AAO:0010217 xref: BTO:0000168 xref: CALOHA:TS-0116 xref: EFO:0000818 xref: EHDAA:6385 xref: EMAPA:18609 xref: EV:0100379 xref: FMA:70504 xref: GAID:478 xref: galen:CarotidArtery xref: MA:0001925 xref: MAT:0000501 xref: MESH:D002339 xref: NCIT:C12687 xref: SCTID:362040006 xref: SCTID:69105007 xref: TAO:0000097 xref: UMLS:C0007272 {source="ncithesaurus:Carotid_Artery"} xref: VHOG:0000266 xref: Wikipedia:Carotid_artery xref: ZFA:0000097 is_a: UBERON:0001637 ! artery property_value: external_definition "Artery originating at the junction of the first two aortic arches and supplying the anterior brain. Kimmel et al, 1995.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000097", ontology="TAO", source="ZFIN:curator"} property_value: IAO:0000116 "This is a generic grouping class that is the superclass of the trunks/branches of the common carotid artery. Note that AOs vary widely in how they divide up and generalize arteries" xsd:string [Term] id: UBERON:0005403 name: ventral striatum namespace: uberon def: "A composite structure of the telencephalon that is defined in the striatopallidal system by connectivity and neurochemical staining. It includes the nucleus accumbens, the most ventral portions of the caudate nucleus and the putamen, the rostrolateral portion of the anterior perforated substance, the islands of Calleja and a rostral subcommissural portion of substantia innominata. The boundary between the ventral striatum and dorsal striatum is indistinct in sections stained for Nissl substance (Heimer-1995; adapted from Brain Info)." [NLX:57107] subset: efo_slim subset: pheno_slim synonym: "striatum ventral region" EXACT [ABA:STRv] synonym: "striatum ventrale" RELATED [BTO:0004702] xref: BAMS:STRv xref: BAMS:StrV xref: BAMS:Ventral_striatum xref: BTO:0004702 xref: DMBA:15858 xref: EFO:0001936 xref: EMAPA:36576 xref: FMA:77614 xref: MA:0002972 xref: MBA:493 xref: MESH:D066328 xref: neuronames:2341 xref: NLX:57107 xref: PBA:10091 xref: Wikipedia:Ventral_striatum is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001017 ! central nervous system relationship: part_of UBERON:0001890 ! forebrain relationship: part_of UBERON:0001893 ! telencephalon property_value: external_definition "The term ventral striatum refers to a composite structure of the endbrain that is defined in the striatopallidal system by connectivity and neurochemical staining. It includes the nucleus accumbens, the most ventral portions of the caudate nucleus and the putamen, the rostrolateral portion of the olfactory tubercle, the islands of Calleja and a rostral subcommissural portion of substantia innominata. The boundary between the ventral striatum and dorsal striatum is indistinct in sections stained for Nissl substance ( Heimer-1995 )." xsd:string {source="neuronames:2341"} [Term] id: UBERON:0005409 name: alimentary part of gastrointestinal system namespace: uberon def: "The part of the digestive system that excludes the hepatobiliary system." [http://orcid.org/0000-0002-6601-2165] subset: pheno_slim synonym: "alimentary system" RELATED [MA:0000323] synonym: "alimentary tract" RELATED [MA:0000323] synonym: "gastro-intestinal system" RELATED [FMA:71132] synonym: "gastroenterological system" RELATED [UBERON:cjm] synonym: "gastrointestinal (GI) tract" RELATED [GAID:294] synonym: "gastrointestinal system" RELATED [FMA:71132] synonym: "gastrointestinal tract" RELATED INCONSISTENT [FMA:71132] synonym: "GI tract" RELATED [GAID:294] xref: BTO:0000058 xref: CALOHA:TS-0407 xref: EHDAA2:0000110 xref: EHDAA:514 xref: EMAPA:16246 xref: EV:0100056 xref: FMA:71132 xref: GAID:294 xref: galen:GastrointestinalTract xref: MA:0000323 xref: MESH:D041981 xref: NCIT:C12378 xref: SCTID:373871007 xref: UMLS:C0012240 {source="ncithesaurus:Gastrointestinal_System"} xref: VHOG:0000412 is_a: UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001007 ! digestive system property_value: external_definition "The system that includes the esophagus, stomach, small and large intestine, anus, liver, biliary tract, and pancreas[ncithesaurus:Gastrointestinal_System]." xsd:string {source="ncithesaurus:Gastrointestinal_System"} property_value: homology_notes "All metazoans (with degenerate exceptions) have some sort of digestive cavity with a means of entrance to and exit from it.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000412", ontology="VHOG", source="ISBN:978-0721676685 Sherwood Romer A and Parsons T, Vertebrate body (1977) p.3", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "the decision to split digestive and gastrointestinal in this way may be revisited. As it currently stands, this class more closely aligns what MA calls the alimentary system" xsd:string property_value: UBPROP:0000012 "that many anatomy ontologies consider this synonymous with digestive system. here we follow MA in dividing digestive system into gastrointestinal and hepatobiliary. hepatobiliary includes the liver and biliary tract. species-specific AO classes are categorized according to whether liver is included. For example, XAO includes liver as part of XAO:0000125 alimentary system, so we assume this class is the more generic class. We have one entity that is part of both gastrointestinal and hepatobiliary systems: hepatopancreatic ampulla." xsd:string {external_ontology="MA"} [Term] id: UBERON:0005439 name: definitive endoderm namespace: uberon subset: efo_slim synonym: "embryonic endoderm" EXACT [FMA:85519] xref: EFO:0002574 xref: EHDAA2:0000337 xref: EHDAA:218 xref: EMAPA:16070 xref: FMA:85519 xref: VHOG:0000751 is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000925 ! endoderm [Term] id: UBERON:0005440 name: ductus arteriosus namespace: uberon def: "A fetal blood vessel connecting the pulmonary artery with the descending aorta[MESH]. In the developing fetus, the ductus arteriosus is a shunt connecting the pulmonary artery to the aortic arch. It allows most of the blood from the right ventricle to bypass the fetus' fluid-filled lungs, protecting the lungs from being overworked and allowing the left ventricle to strengthen. There are two other fetal shunts, the ductus venosus and the foramen ovale[MP]. the fetal vessel that connects the left pulmonary artery with the descending aorta; the ductus arteriosus normally regresses into a fibrous cord, the ligamentum arteriousum after birth[MP]." [MESH:A07.541.278.395, MP:0010564, Wikipedia:Ductus_arteriosus] subset: efo_slim subset: pheno_slim synonym: "arterial canal" RELATED [MP:0010564] synonym: "arterial duct" RELATED [MP:0010564] synonym: "Botallo's duct" RELATED [Wikipedia:Ductus_arteriosus] synonym: "ductus arteriosis" RELATED [Wikipedia:Ductus_arteriosus] synonym: "ductus arteriosum" RELATED [Wikipedia:Ductus_arteriosus] synonym: "ductus botalli" RELATED [Wikipedia:Ductus_arteriosus] synonym: "ductus Botallo" EXACT [MP:0010564] synonym: "ductus layton" RELATED [Wikipedia:Ductus_arteriosus] synonym: "fetal ductus arteriosus" RELATED [MP:0010564] xref: EFO:0002515 xref: EHDAA2:0000420 xref: EHDAA:6462 xref: EMAPA:17858 xref: FMA:79871 xref: galen:DuctusArteriosus xref: MA:0001947 xref: MESH:D004373 xref: NCIT:C52854 xref: SCTID:253684002 xref: UMLS:C0013273 {source="ncithesaurus:Ductus_Arteriosus"} xref: VHOG:0000923 xref: Wikipedia:Ductus_arteriosus is_a: EFO:0001955 ! heart component is_a: EFO:0002462 ! foetal structure is_a: UBERON:0001637 ! artery relationship: part_of UBERON:0000915 ! thoracic segment of trunk relationship: part_of UBERON:0000948 ! heart relationship: part_of UBERON:0002100 ! trunk property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/e/ee/Gray502.png xsd:anyURI property_value: external_definition "The temporary channel or blood vessel between the aorta and pulmonary artery in the fetus. [TFD][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000923", ontology="VHOG", source="http://bgee.unil.ch/", source="http://medical-dictionary.thefreedictionary.com/ductus+arteriosus"} property_value: homology_notes "On the other hand, in the sister clade of the actinopterygians, the sarcopterygians, the gill circulation is supplemented with lung ventilation. As a result, the pulmonary artery and vein and a functional ductus arteriosus arose as a major evolutionary innovation from the sixth arch, giving the organism a flexible shunt to balance blood supply to and from gills and lungs according to environmental conditions.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000923", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.620", source="http://bgee.unil.ch/"} [Term] id: UBERON:0005493 name: hyoid muscle namespace: uberon def: "One of a group of muscles used in mastication and swallowing. These muscles are attached to the hyoid bone, which is suspended in the neck and forms the base of the tongue and larynx. The muscles are divided into suprahyoid (superior) or infrahyoid (inferior) groups relative to the bone[WP, generalized]." [http://www.answers.com/topic/hyoid-muscles] subset: efo_slim subset: grouping_class subset: vertebrate_core synonym: "hyoid muscles" EXACT [ZFA:0000521] xref: EFO:0003536 xref: EHDAA2:0000794 xref: NCIT:C32753 xref: SCTID:244823009 xref: TAO:0000521 xref: UMLS:C0448345 {source="ncithesaurus:Hyoid_Muscle"} xref: VHOG:0001494 xref: ZFA:0000521 is_a: UBERON:0000933 ! chordate pharyngeal muscle property_value: homology_notes "Although the zebrafish occupies a rather derived phylogenetic position within actinopterygians and even within teleosts, with respect to the mandibular, hyoid and hypobranchial muscles it seems justified to consider it an appropriate representative of these two groups. Among these muscles, the three with clear homologues in tetrapods and the further three identified in sarcopterygian fish are particularly appropriate for comparisons of results between the actinopterygian zebrafish and the sarcopterygians.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001494", ontology="VHOG", source="DOI:10.1186/1471-213X-8-24 Diogo R, Hinits Y, Hughes SM, Development of mandibular, hyoid and hypobranchial muscles in the zebrafish: homologies and evolution of these muscles within bony fishes and tetrapods. BMC Developmental Biology (2008)", source="http://bgee.unil.ch/"} property_value: taxon_notes "attachment sites may vary by species; for example, in orangutans, the posterior digastric does not attach to the hyoid, but we may still consider this a (supra)hyoid muscle." xsd:string [Term] id: UBERON:0005497 name: non-neural ectoderm namespace: uberon comment: Gene notes: One of the first genes to be expressed in nonneural ectoderm in amphioxus is BMP2/4 (Panopoulou et al. 1998). BMP2/4 homologues appear to have a very ancient role in distinguishing neural from nonneural ectoderm; in Drosophila as well as in amphioxus and vertebrates, BMP2/4 homologues are expressed in nonneural ectoderm and function in distinguishing neural from nonneural ectoderm (Francois & Bier, 1995 ; Sasai et al. 1995 ; Wilson & Hemmati-Brivanlou, 1995; Panopoulou et al. 1998). A change in level of BMP2/4 from very high in nonneural ectoderm to low in neural ectoderm appears to be a key factor in development of neural crest (Baker & Bronner-Fraser,1997a,1997b;Erickson&Reedy,1998;Marchantet al.1998 ;Selleck et al. 1998). subset: efo_slim subset: vertebrate_core synonym: "epidermal ectoderm" NARROW [https://github.com/obophenotype/uberon/wiki/The-neural-crest] synonym: "epithelial ectoderm" NARROW [https://github.com/obophenotype/uberon/wiki/The-neural-crest] synonym: "non neural ectoderm" EXACT [ZFA:0001178] synonym: "surface ectoderm" RELATED [https://github.com/obophenotype/uberon/wiki/The-neural-crest] synonym: "ventral ectoderm" RELATED [ZFA:0001178] xref: EFO:0003643 xref: EHDAA:257 xref: EMAPA:16074 xref: RETIRED_EHDAA2:0001273 xref: TAO:0001178 xref: VHOG:0001372 xref: XAO:0004091 xref: ZFA:0001178 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000468 ! multicellular organism property_value: homology_notes "In the early gastrula of vertebrates, factors from the organizer (e.g. noggin, chordin, and follistatin in Xenopus) antagonize the epidermalizing factor bone morphogenetic protein 4 (BMP4), thus dividing the epiblast into neuroectoderm. In Drosophila, decapentaplegic, the homologue of BMP4, interacts similarly with the protein short gastrulation, the homologue of chordin. Thus, a comparable molecular mechanism for distinguishing non-neural ectoderm from neural ectoderm was probably present in the common ancestor of all bilaterally symmetrical animals.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001372", ontology="VHOG", source="DOI:10.1016/S0959-4388(99)00003-3 Holland LZ and Holland ND, Chordate origins of the vertebrate central nervous system. Current Opinion in Neurobiology (1999)", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "todo - epidermis? todo - track down EHDAA2 class in new release" xsd:string property_value: RO:0002171 UBERON:0002346 property_value: UBPROP:0000011 "After gastrulation, neural crest cells are specified at the border of the neural plate and the non-neural ectoderm." xsd:string [Term] id: UBERON:0005499 name: rhombomere 1 namespace: uberon def: "Hindbrain segment or neuromere 1." [ZFA:0001031] subset: efo_slim subset: pheno_slim subset: vertebrate_core synonym: "r1" EXACT ABBREVIATION [ZFA:0001031] xref: DHBA:12667 xref: DMBA:16915 xref: EFO:0003608 xref: EHDAA2:0001637 xref: EMAPA:16290 xref: FMA:295790 xref: TAO:0001031 xref: ZFA:0001031 is_a: UBERON:0001892 ! rhombomere property_value: external_definition "Hindbrain segment or neuromere. Kimmel et al, 1995.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0001031", ontology="TAO", source="ZFIN:curator"} property_value: rhombomere_number "1" xsd:nonNegativeInteger [Term] id: UBERON:0005507 name: rhombomere 3 namespace: uberon def: "The third transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order." [MGI:anna, MGI:csmith, MP:0012792, UBERON:0005507] subset: efo_slim subset: pheno_slim subset: vertebrate_core synonym: "r3" EXACT ABBREVIATION [ZFA:0000948] xref: DHBA:12669 xref: DMBA:17093 xref: EFO:0003596 xref: EHDAA2:0001657 xref: EMAPA:16297 xref: FMA:295794 xref: TAO:0000948 xref: XAO:0004081 xref: ZFA:0000948 is_a: UBERON:0001892 ! rhombomere property_value: external_definition "Hindbrain segment or neuromere. Kimmel et al, 1995.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000948", ontology="TAO", source="ZFIN:curator"} property_value: rhombomere_number "3" xsd:nonNegativeInteger [Term] id: UBERON:0005511 name: rhombomere 4 namespace: uberon def: "The fourth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order." [MGI:anna, MGI:csmith, MP:0012796, UBERON:0005511] subset: efo_slim subset: pheno_slim subset: vertebrate_core synonym: "r4" EXACT ABBREVIATION [ZFA:0001032] xref: DHBA:12671 xref: DMBA:17156 xref: EFO:0003609 xref: EHDAA2:0001667 xref: EMAPA:16301 xref: FMA:295796 xref: TAO:0001032 xref: XAO:0004082 xref: ZFA:0001032 is_a: UBERON:0001892 ! rhombomere property_value: external_definition "Hindbrain segment or neuromere. Kimmel et al, 1995.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0001032", ontology="TAO", source="ZFIN:curator"} property_value: rhombomere_number "4" xsd:nonNegativeInteger [Term] id: UBERON:0005515 name: rhombomere 5 namespace: uberon def: "The fifth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order." [MGI:anna, MGI:csmith, MP:0012800, UBERON:0005515] subset: efo_slim subset: pheno_slim subset: vertebrate_core synonym: "r5" EXACT ABBREVIATION [ZFA:0000823] xref: DHBA:12673 xref: DMBA:17221 xref: EFO:0003580 xref: EHDAA2:0001677 xref: EMAPA:16305 xref: FMA:295834 xref: TAO:0000823 xref: XAO:0004083 xref: ZFA:0000823 is_a: UBERON:0001892 ! rhombomere property_value: external_definition "Hindbrain segment or neuromere. Kimmel et al, 1995.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000823", ontology="TAO", source="ZFIN:curator"} property_value: rhombomere_number "5" xsd:nonNegativeInteger [Term] id: UBERON:0005519 name: rhombomere 6 namespace: uberon def: "The sixth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order." [MGI:anna, MGI:csmith, MP:0012804, UBERON:0005519] subset: efo_slim subset: pheno_slim subset: vertebrate_core synonym: "r6" EXACT ABBREVIATION [ZFA:0000069] xref: DHBA:12674 xref: DMBA:17290 xref: EFO:0003480 xref: EHDAA2:0001687 xref: EMAPA:16500 xref: FMA:295836 xref: TAO:0000069 xref: XAO:0004084 xref: ZFA:0000069 is_a: UBERON:0001892 ! rhombomere property_value: external_definition "Hindbrain segment or neuromere. Kimmel et al, 1995.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000069", ontology="TAO", source="ZFIN:curator"} property_value: rhombomere_number "6" xsd:nonNegativeInteger [Term] id: UBERON:0005523 name: rhombomere 7 namespace: uberon def: "The seventh transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order." [MGI:anna, MGI:csmith, MP:0012808, UBERON:0005523] subset: efo_slim subset: pheno_slim subset: vertebrate_core synonym: "r7" EXACT ABBREVIATION [ZFA:0000949] xref: DHBA:12675 xref: DMBA:17353 xref: EFO:0003597 xref: EHDAA2:0001697 xref: EMAPA:16504 xref: FMA:295838 xref: TAO:0000949 xref: ZFA:0000949 is_a: UBERON:0001892 ! rhombomere property_value: external_definition "Hindbrain segment or neuromere. Kimmel et al, 1995.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000949", ontology="TAO", source="ZFIN:curator"} property_value: rhombomere_number "7" xsd:nonNegativeInteger [Term] id: UBERON:0005527 name: rhombomere 8 namespace: uberon def: "The eighth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order." [MGI:anna, MGI:csmith, MP:0012812, UBERON:0005527] subset: efo_slim subset: pheno_slim subset: vertebrate_core synonym: "r8" EXACT ABBREVIATION [ZFA:0000153] xref: DHBA:12677 xref: DHBA:12868 xref: DMBA:17416 xref: EFO:0003500 xref: EHDAA2:0001707 xref: EMAPA:16508 xref: TAO:0000153 xref: ZFA:0000153 is_a: UBERON:0001892 ! rhombomere property_value: external_definition "Hindbrain segment or neuromere. Kimmel et al, 1995.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000153", ontology="TAO", source="ZFIN:curator"} property_value: rhombomere_number "8" xsd:nonNegativeInteger [Term] id: UBERON:0005562 name: thymus primordium namespace: uberon def: "A small outgrowth of the pharyngeal epithelium that is the site of lymphocyte cell production[ZFA]. [PMID]." [ZFA:0001077] subset: efo_slim subset: vertebrate_core synonym: "thymic primordium" EXACT [OBOL:automatic] synonym: "thymic rudiment" EXACT [ZFA:0001077] xref: EFO:0003622 xref: EHDAA2:0002023 xref: EHDAA:2969 xref: EMAPA:17523 xref: TAO:0001077 xref: ZFA:0001077 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0000483 ! epithelium is_a: UBERON:0001048 ! primordium relationship: part_of UBERON:0001004 ! respiratory system relationship: part_of UBERON:0001042 ! chordate pharynx relationship: part_of UBERON:0002405 ! immune system property_value: external_definition "A small outgrowth of the pharyngeal epithelium that is the site of lymphocyte cell production. Willett et al, 1999.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0001077", ontology="TAO", source="ZFIN:curator"} property_value: IAO:0000116 "we follow Kardong table 13.1 in having some developmental contribution of pouch 4 in mammals, but this isn't reflected in EHDAA2. Consider adding distinct term for mesenchyme (see EHDAA2), to indicate NC constribution." xsd:string {source="ISBN:0781714125"} property_value: taxon_notes "variability of developmental origin: In fish, thymic primordia are generated by all the pouches except the first. However, in avians the thymus arises from pouches 3 and 4, whereas in humans it is only generated by the third pouch[PMID:16313389] The thymus arises from the second pouch in frogs, 2-6 in cartilaginous fish, 2-3 in reptiles, 3 or 4 in bony fish, birds and mammals. The final number is variable - 5 paired organs in sharks, 4 in caecilians, 3 in urodeles, 1 in many teleost, anurans and many mammals" xsd:string {source="ISBN:0781714125"} [Term] id: UBERON:0005563 name: trigeminal neural crest namespace: uberon def: "Cranial neural crest which gives rise to the trigeminal ganglion." [ZFA:0000080] subset: efo_slim subset: vertebrate_core xref: EFO:0003484 xref: EHDAA2:0002083 xref: EHDAA:667 xref: EMAPA:16170 xref: TAO:0000080 xref: VHOG:0000269 xref: ZFA:0000080 is_a: UBERON:0003099 ! cranial neural crest is_a: UBERON:0007213 ! mesenchyme derived from head neural crest relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0007213 ! mesenchyme derived from head neural crest property_value: homology_notes "We conclude this section by listing some of the many synapomorphies of craniates, including (1) the neural crest (...).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000269", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.43", source="http://bgee.unil.ch/"} property_value: IAO:0000116 "todo - compare ZFA and EHDAA2 representation" xsd:string [Term] id: UBERON:0005564 name: gonad primordium namespace: uberon def: "Portion of tissue that gives rise to the immature gonad." [ZFA:0001262] subset: efo_slim subset: grouping_class subset: vertebrate_core synonym: "future gonad" EXACT [http://orcid.org/0000-0002-6601-2165] synonym: "gonadal primordium" EXACT [ZFA:0001262] synonym: "immature gonad" RELATED [http://orcid.org/0000-0002-6601-2165] synonym: "primitive gonad" EXACT [http://orcid.org/0000-0002-6601-2165] synonym: "undifferentiated gonad" EXACT [ZFA:0001262] xref: EFO:0003651 xref: EHDAA:5927 xref: EMAPA:17204 xref: RETIRED_EHDAA2:0002148 xref: TAO:0001262 xref: WBbt:0008366 xref: ZFA:0001262 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001048 ! primordium relationship: part_of UBERON:0000990 ! reproductive system property_value: external_definition "Immature reproductive tissue that has not undergone final maturation into either testis or ovary.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0001262", ontology="TAO", source="ZFIN:curator"} property_value: taxon_notes "this is a very broad grouping class" xsd:string [Term] id: UBERON:0005566 name: rhombomere 1 floor plate namespace: uberon subset: efo_slim subset: vertebrate_core synonym: "floor plate r1" EXACT [ZFA:0000882] synonym: "floor plate rhombomere 1" EXACT [ZFA:0000882] xref: DMBA:17022 xref: EFO:0003584 xref: EHDAA2:0001640 xref: EMAPA:16291 xref: TAO:0000882 xref: ZFA:0000882 is_a: UBERON:0003079 ! floor plate relationship: part_of UBERON:0001892 ! rhombomere relationship: part_of UBERON:0005499 ! rhombomere 1 [Term] id: UBERON:0005569 name: rhombomere 2 namespace: uberon def: "The second transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order." [MGI:anna, MGI:csmith, MP:0012788, UBERON:0005569] subset: efo_slim subset: pheno_slim subset: vertebrate_core synonym: "r2" EXACT ABBREVIATION [ZFA:0000822] xref: DHBA:12668 xref: DMBA:17023 xref: EFO:0003579 xref: EHDAA2:0001647 xref: EMAPA:16293 xref: FMA:295792 xref: TAO:0000822 xref: XAO:0004080 xref: ZFA:0000822 is_a: UBERON:0001892 ! rhombomere property_value: external_definition "Hindbrain segment or neuromere. Kimmel et al, 1995.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000822", ontology="TAO", source="ZFIN:curator"} property_value: rhombomere_number "3" xsd:nonNegativeInteger [Term] id: UBERON:0005570 name: rhombomere 2 floor plate namespace: uberon def: "A rhombomere floor plate that is part of a rhombomere 2." [OBOL:automatic] subset: efo_slim subset: vertebrate_core synonym: "floor plate r2" EXACT [ZFA:0000763] synonym: "floor plate rhombomere 2" EXACT [ZFA:0000763] synonym: "floorplate r2" EXACT [ZFA:0000763] xref: DMBA:17091 xref: EFO:0003568 xref: EHDAA2:0001650 xref: EMAPA:16294 xref: TAO:0000763 xref: ZFA:0000763 is_a: UBERON:0003079 ! floor plate relationship: part_of UBERON:0001892 ! rhombomere relationship: part_of UBERON:0005569 ! rhombomere 2 [Term] id: UBERON:0005573 name: rhombomere 3 floor plate namespace: uberon def: "A rhombomere floor plate that is part of a rhombomere 3." [OBOL:automatic] subset: efo_slim subset: vertebrate_core synonym: "floor plate r3" EXACT [ZFA:0000888] synonym: "floor plate rhombomere 3" EXACT [ZFA:0000888] synonym: "floorplate r3" EXACT [ZFA:0000888] xref: DMBA:17155 xref: EFO:0003586 xref: EHDAA2:0001660 xref: EMAPA:16298 xref: TAO:0000888 xref: ZFA:0000888 is_a: UBERON:0003079 ! floor plate relationship: part_of UBERON:0001892 ! rhombomere relationship: part_of UBERON:0005507 ! rhombomere 3 [Term] id: UBERON:0005576 name: rhombomere 4 floor plate namespace: uberon def: "A rhombomere floor plate that is part of a rhombomere 4." [OBOL:automatic] subset: efo_slim subset: vertebrate_core synonym: "floor plate r4" EXACT [ZFA:0000893] synonym: "floor plate rhombomere 4" EXACT [ZFA:0000893] synonym: "floorplate r4" EXACT [ZFA:0000893] xref: DMBA:17219 xref: EFO:0003588 xref: EHDAA2:0001670 xref: EMAPA:16302 xref: TAO:0000893 xref: ZFA:0000893 is_a: UBERON:0003079 ! floor plate relationship: part_of UBERON:0001892 ! rhombomere relationship: part_of UBERON:0005511 ! rhombomere 4 [Term] id: UBERON:0005579 name: rhombomere 5 floor plate namespace: uberon def: "A rhombomere floor plate that is part of a rhombomere 5." [OBOL:automatic] subset: efo_slim subset: vertebrate_core synonym: "floor plate r5" EXACT [ZFA:0000764] synonym: "floor plate rhombomere 5" EXACT [ZFA:0000764] synonym: "floorplate r5" EXACT [ZFA:0000764] xref: DMBA:17289 xref: EFO:0003569 xref: EHDAA2:0001680 xref: EMAPA:16306 xref: TAO:0000764 xref: ZFA:0000764 is_a: UBERON:0003079 ! floor plate relationship: part_of UBERON:0001892 ! rhombomere relationship: part_of UBERON:0005515 ! rhombomere 5 [Term] id: UBERON:0005582 name: rhombomere 6 floor plate namespace: uberon def: "A rhombomere floor plate that is part of a rhombomere 6." [OBOL:automatic] subset: efo_slim subset: vertebrate_core synonym: "floor plate r6" EXACT [ZFA:0000889] synonym: "floor plate rhombomere 6" EXACT [ZFA:0000889] synonym: "floorplate r6" EXACT [ZFA:0000889] xref: DMBA:17351 xref: EFO:0003587 xref: EHDAA2:0001690 xref: EMAPA:16501 xref: TAO:0000889 xref: ZFA:0000889 is_a: UBERON:0003079 ! floor plate relationship: part_of UBERON:0001892 ! rhombomere relationship: part_of UBERON:0005519 ! rhombomere 6 [Term] id: UBERON:0005585 name: rhombomere 7 floor plate namespace: uberon def: "A rhombomere floor plate that is part of a rhombomere 7." [OBOL:automatic] subset: efo_slim subset: vertebrate_core synonym: "floor plate r7" EXACT [ZFA:0000904] synonym: "floor plate rhombomere 7" EXACT [ZFA:0000904] synonym: "floorplate r7" EXACT [ZFA:0000904] xref: DMBA:17415 xref: EFO:0003589 xref: EHDAA2:0001700 xref: EMAPA:16505 xref: TAO:0000904 xref: ZFA:0000904 is_a: UBERON:0003079 ! floor plate relationship: part_of UBERON:0001892 ! rhombomere relationship: part_of UBERON:0005523 ! rhombomere 7 [Term] id: UBERON:0005588 name: rhombomere 8 floor plate namespace: uberon def: "A rhombomere floor plate that is part of a rhombomere 8." [OBOL:automatic] subset: efo_slim subset: vertebrate_core synonym: "floor plate r8" EXACT [ZFA:0000765] synonym: "floor plate rhombomere 8" EXACT [ZFA:0000765] synonym: "floorplate r8" EXACT [ZFA:0000765] xref: DMBA:17475 xref: EFO:0003570 xref: EHDAA2:0001709 xref: EMAPA:16509 xref: TAO:0000765 xref: ZFA:0000765 is_a: UBERON:0003079 ! floor plate relationship: part_of UBERON:0001892 ! rhombomere relationship: part_of UBERON:0005527 ! rhombomere 8 [Term] id: UBERON:0005609 name: iliac artery namespace: uberon def: "Any of the arteries that arise from a bifurcation of the aorta supplying the pelvic or abdomen. Examples: Common iliac artery, External iliac artery, Internal iliac artery." [https://orcid.org/0000-0002-6601-2165, Wikipedia:Iliac_artery] subset: grouping_class xref: BTO:0004665 xref: EHDAA:2551 xref: EMAPA:17309 xref: galen:IliacArtery xref: MA:0001971 xref: MESH:D007083 xref: NCIT:C12733 xref: RETIRED_EHDAA2:0000807 xref: SCTID:244330006 xref: UMLS:C0020887 {source="ncithesaurus:Iliac_Artery"} xref: Wikipedia:Iliac_artery xref: XAO:0000361 is_a: UBERON:0001637 ! artery property_value: IAO:0000232 "this is an extremely loose and flexible grouping class that is the superclass of the mammalian common iliac and its main brahces, together with analagous structures in other tetrapods" xsd:string property_value: UBPROP:0000012 "we place the XAO structure here for now. In terms of analagy, it is more closely related to common iliac, but the relationships currently attached to this class are mammal specific" xsd:string {external_ontology="XAO"} [Term] id: UBERON:0005721 name: pronephric mesoderm namespace: uberon def: "A mesoderm that has the potential to develop into a pronephros." [OBOL:automatic] comment: the intermediate mesoderm of the chick embryo acquires its ability to form kidneys through its interactions with the paraxial mesoderm [ISBN:9780878932504 "Developmental Biology", PMID:10720431 "Signals from trunk paraxial mesoderm induce pronephros formation in chick intermediate mesoderm"]. These interactions induce the expression of TFs including Lim1, Pax2 and Pax6 that cause the intermediate mesoderm to form the kidney subset: efo_slim synonym: "pronephric anlage" RELATED [XAO:0000264] synonym: "pronephric bulge" RELATED [XAO:0000264] synonym: "pronephric mesenchyme" RELATED [XAO:0000264] synonym: "pronephric primordium" RELATED [XAO:0000264] xref: AAO:0011090 xref: EFO:0003479 xref: TAO:0000067 xref: VHOG:0001239 xref: XAO:0000264 xref: ZFA:0000067 is_a: UBERON:0000926 ! mesoderm relationship: part_of UBERON:0000922 ! embryo property_value: external_definition "Portion of tissue that consists of the mesenchymal precursor to the pronephric kidney and that begins to separate from the intermediate mesoderm at NF stage 21 and epithelializes by NF stage 30.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0011090", ontology="AAO", source="XAO:curator"} [Term] id: UBERON:0005725 name: olfactory system namespace: uberon def: "A sensory system that is capable of olfaction (the sensory perception of smell)." [http://orcid.org/0000-0002-6601-2165] subset: efo_slim subset: pheno_slim subset: vertebrate_core xref: AAO:0000334 xref: AAO:0000978 xref: BILA:0000144 xref: EFO:0001973 xref: EMAPA:36004 xref: FMA:7190 xref: MA:0002445 xref: NCIT:C94501 xref: NLXANAT:090806 xref: SCTID:362290002 xref: TAO:0001149 xref: UMLS:C0228065 {source="ncithesaurus:Olfactory_System"} xref: Wikipedia:Olfactory_system xref: XAO:0003196 xref: ZFA:0001149 is_a: UBERON:0000061 ! anatomical structure is_a: UBERON:0001032 ! sensory system property_value: external_definition "The olfactory system is the sensory system used for olfaction, or the sense of smell. Most mammals and reptiles have two distinct parts to their olfactory system: a main olfactory system and an accessory olfactory system. The main olfactory system detects volatile, airborne substances, while the accessory olfactory system senses fluid-phase stimuli. Behavioral evidence indicates that most often, the stimuli detected by the accessory olfactory system are pheromones. The olfactory system is often spoken of along with the gustatory system as the chemosensory senses because both transduce chemical signals into perception[WP][Wikipedia:Olfactory_system]." xsd:string {source="Wikipedia:Olfactory_system"} property_value: external_definition "The sensory system used for olfaction (the sense of smell).[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000978", ontology="AAO", source="AAO:EJS"} property_value: IAO:0000116 "consider splitting into main and accessory. See also: vomeronasal organ" xsd:string property_value: IAO:0000116 "we make the relationship to nervous system 'overlaps', as the olfactory system includes e.g. apertures in the cranium that are not part of the nervous system" xsd:string property_value: taxon_notes "In mammals, the main olfactory system detects odorants that are inhaled through the nose, where they contact the main olfactory epithelium, which contains various olfactory receptors. These olfactory receptors are membrane proteins of bipolar olfactory receptor neurons in the olfactory epithelium. Rather than binding specific ligands like most receptors, olfactory receptors display affinity for a range of odor molecules. Olfactory neurons transduce receptor activation into electrical signals in neurons. The signals travel along the olfactory nerve, which belongs to the peripheral nervous system. This nerve terminates in the olfactory bulb, which belongs to the central nervous system. The complex set of olfactory receptors on different olfactory neurons can distinguish a new odor from the background environmental odors and determine the concentration of the odor[WP]." xsd:string [Term] id: UBERON:0005750 name: glomerular parietal epithelium namespace: uberon def: "A single layer of simple squamous epithelium in the glomerular capsule. Does not function in filtration[UBERON]. outer layer of the glomerular capsule composed of a single layer of simple squamous epithelium[MP]." [https://orcid.org/0000-0002-6601-2165, MP:0011498] subset: human_reference_atlas subset: pheno_slim subset: vertebrate_core synonym: "Bowman's parietal epithelium" EXACT [MP:0011498] synonym: "capsular epithelium" EXACT [BTO:0002296] synonym: "glomerular capsule parietal layer" EXACT [FMA:74272] synonym: "kidney parietal epithelium" RELATED [EMAPA:35969] synonym: "outer layer of glomerular capsule" EXACT [FMA:74272] synonym: "parietal capsular epithelium" EXACT [MP:0011498] synonym: "parietal epithelial layer" EXACT [ZFA:0005253] synonym: "parietal epithelium of Bowman's capsule" EXACT [MP:0011498] synonym: "parietal layer of Bowman capsule" EXACT [] synonym: "parietal layer of Bowman's capsule" EXACT [MP:0011498] synonym: "parietal layer of glomerular capsule" EXACT [FMA:74272, MP:0011498] synonym: "renal glomerular capsule epithelium" EXACT [ZFA:0005253] xref: BTO:0002296 xref: EMAPA:27979 xref: EMAPA:28260 xref: EMAPA:35969 xref: FMA:74272 xref: MA:0002605 xref: NCIT:C33271 xref: SCTID:362218005 xref: TAO:0005253 xref: UMLS:C0227645 {source="ncithesaurus:Parietal_Layer_of_Bowman_s_Capsule"} xref: ZFA:0005253 is_a: UBERON:0000483 ! epithelium relationship: part_of UBERON:0000074 ! renal glomerulus relationship: part_of UBERON:0001230 ! glomerular capsule relationship: part_of UBERON:0001285 ! nephron relationship: part_of UBERON:0002113 ! kidney property_value: external_definition "Simple squamous epithelium that lines the capsule of the renal glomerulus.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0005253", ontology="TAO", source="ZFIN:curator"} property_value: IAO:0000116 "TODO - check this. BTO has podocytes under here" xsd:string property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0005870 name: olfactory pit namespace: uberon def: "An indentation of the olfactory placode which ends when the pits hollows out to form the nasopharynx[GO]." [GO:0060166, Wikipedia:Nasal_pit] subset: efo_slim subset: pheno_slim synonym: "nasal pit" EXACT [XAO:0000275] xref: AAO:0011068 xref: EFO:0003496 xref: EHDAA2:0001295 xref: EHDAA:4772 xref: EMAPA:16800 xref: FMA:295840 xref: SCTID:361485001 xref: Wikipedia:Nasal_pit xref: XAO:0000275 xref: XAO:0004073 is_a: EFO:0000792 ! craniofacial tissue is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000004 ! nose relationship: part_of UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000922 ! embryo property_value: external_definition "By the upgrowth of the surrounding parts the olfactory areas are converted into pits, the nasal pits or olfactory pits, which indent the fronto-nasal process and divide it into a medial and two lateral nasal processes[Wikipedia:Nasal_pit]." xsd:string {source="Wikipedia:Nasal_pit"} property_value: IAO:0000116 "we represent the relationship as develops from, though in fact the pit is formed as an indentation in the placode" xsd:string [Term] id: UBERON:0005945 name: neurocranial trabecula namespace: uberon subset: efo_slim synonym: "neurocranial trabeculae" EXACT PLURAL [ZFA:0001321] synonym: "trabecula" BROAD SENSU [ZFA:0001321] synonym: "trabecular cartilage" BROAD [ZFA:0001321] xref: EFO:0003677 xref: TAO:0001321 xref: ZFA:0001321 is_a: UBERON:0003932 ! cartilage element of chondrocranium relationship: part_of UBERON:0003112 ! olfactory region [Term] id: UBERON:0006083 name: perirhinal cortex namespace: uberon def: "Region of cortex near to the rhinal sulcus. It is defined differently in different nomenclatures, due in part to the lack of agreement on the definition of the border of this region. In the rat, the perirhinal cortex occupies only caudal levels of the rhinal sulcus while in the monkey, it occurpies the full rostrocaudal extent of the rhinal sulcus (Burwell et al., Hippocampus, 5: 390-408, 1995)." [NLXANAT:1005006] subset: efo_slim subset: human_reference_atlas synonym: "area perirhinalis" RELATED LATIN [NeuroNames:2425] synonym: "Brodmann's area 35" RELATED [NeuroNames:2425] synonym: "perihinal area" RELATED [BAMS:PERI] synonym: "perirhinal area" EXACT [NLXANAT:1005006] synonym: "perirhinal cortex" EXACT [NLXANAT:1005006] xref: BAMS:PERI xref: BAMS:PRh xref: BM:Tel-Cx-PRh xref: BTO:0004355 xref: EFO:0001978 xref: EMAPA:35682 xref: MA:0000912 xref: MBA:922 xref: MESH:D000071039 xref: neuronames:2425 xref: NLXANAT:1005006 xref: PBA:128012080 xref: Wikipedia:Perirhinal_cortex is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0000956 ! cerebral cortex relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0001893 ! telencephalon property_value: RO:0002175 NCBITaxon:9606 property_value: UBPROP:0000012 "in MA classified as part of insular cortex, but this is contested by MM - https://support.crbs.ucsd.edu/browse/NIF-9830" xsd:string {external_ontology="MA"} [Term] id: UBERON:0006088 name: inferior parietal cortex namespace: uberon def: "Component of the parietal lobe. The inferior parietal cortex label includes the inferior parietal gyrus and the angular gyrus and lies inferior to the superior parietal gyrus. The rostral and caudal boundaries were the supramarginal gyrus and the parieto-occipital incisure respectively. The medial and lateral boundaries were the superior parietal gyrus and the middle temporal gyrus respectively (Christine Fennema-Notestine)." [BIRNLEX:1194] subset: efo_slim synonym: "inferior parietal cortex" EXACT [BIRNLEX:1194] synonym: "inferior parietal gyrus" RELATED [NeuroNames:107] synonym: "inferior parietal lobule" EXACT [BIRNLEX:1194, FMA:77536] synonym: "inferior portion of parietal gyrus" RELATED [NeuroNames:107] synonym: "lobulus parietalis inferior" RELATED LATIN [NeuroNames:107] synonym: "subparietal district" RELATED [NeuroNames:107] synonym: "subparietal lobule" RELATED [NeuroNames:107] xref: BIRNLEX:1194 xref: DHBA:12134 xref: EFO:0001951 xref: FMA:77536 xref: HBA:4103 xref: neuronames:107 {source="BIRNLEX:1194"} xref: SCTID:362336007 xref: UMLS:C0152304 {source="BIRNLEX:1194"} is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0001872 ! parietal lobe [Term] id: UBERON:0006222 name: future diencephalon namespace: uberon def: "The foremost region of the future forebrain that develops into the diencephalon." [UBERON:cjm, Wikipedia:Diencephalon] subset: efo_slim subset: emapa_ehdaa2 subset: vertebrate_core synonym: "presumptive diencephalon" EXACT [TAO:0000574] xref: EFO:0003442 xref: EHDAA2:0000600 xref: EHDAA:844 xref: EMAPA:16514 xref: RETIRED_EHDAA2:0000386 xref: TAO:0000574 xref: ZFA:0000574 is_a: EFO:0003332 ! zebrafish embryonic structure is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0006240 ! future forebrain [Term] id: UBERON:0006238 name: future brain namespace: uberon def: "The embryonic precursor of the brain." [NLX:94995] subset: cumbo subset: efo_slim subset: emapa_ehdaa2 subset: vertebrate_core synonym: "brain rudiment" EXACT [TAO:0000146] synonym: "embryonic brain" RELATED [BTO:0004726] synonym: "encephalon" NARROW [NLX:94995] synonym: "presumptive brain" EXACT [ZFA:0000146] xref: BAMS:Enc xref: BTO:0004726 xref: EFO:0003431 xref: EHDAA:300 xref: EHDAA:830 xref: EMAPA:16089 xref: FMA:312967 xref: RETIRED_EHDAA2:0000591 xref: TAO:0000146 xref: ZFA:0000146 is_a: EFO:0003332 ! zebrafish embryonic structure is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo property_value: external_definition "The embryonic precursor of the brain and the set of mature brain structures that derive from it (CUMBO)" xsd:string {source="http://neurolex.org/wiki/Cumbo_terms"} [Term] id: UBERON:0006240 name: future forebrain namespace: uberon def: "A presumptive structure that has the potential to develop into a forebrain." [OBOL:automatic] subset: efo_slim subset: emapa_ehdaa2 subset: vertebrate_core synonym: "future prosencephalon" EXACT [] synonym: "presumptive forebrain" EXACT [ZFA:0000062] synonym: "presumptive prosencephalon" EXACT [TAO:0000062] synonym: "prosencephalon" RELATED [EHDAA2:0000661] xref: BAMS:Pros xref: EFO:0003423 xref: EHDAA2:0000661 xref: EHDAA:2643 xref: EMAPA:16640 xref: TAO:0000062 xref: Wikipedia:Prosencephalon xref: ZFA:0000062 is_a: EFO:0003332 ! zebrafish embryonic structure is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0006238 ! future brain property_value: IAO:0000116 "TODO. Add relationships to neural plate (both ZFA and EMAPA time this with the neural plate)" xsd:string [Term] id: UBERON:0006241 name: future spinal cord namespace: uberon subset: efo_slim subset: vertebrate_core synonym: "presumptive spinal cord" EXACT [ZFA:0000417] synonym: "presumptive spinal cord neural keel" EXACT [TAO:0000417] synonym: "presumptive spinal cord neural plate" EXACT [TAO:0000417] synonym: "presumptive spinal cord neural rod" EXACT [TAO:0000417] xref: EFO:0003438 xref: EHDAA2:0000674 xref: EHDAA:898 xref: EMAPA:16092 xref: EMAPA:16755 xref: TAO:0000417 xref: ZFA:0000417 is_a: EFO:0003332 ! zebrafish embryonic structure is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0001017 ! central nervous system [Term] id: UBERON:0006314 name: bodily fluid namespace: uberon def: "Liquid components of living organisms. includes fluids that are excreted or secreted from the body as well as body water that normally is not." [MESH:A12.207, Wikipedia:Body_fluid] subset: pheno_slim synonym: "body fluid" EXACT [GAID:266] synonym: "fluid" BROAD [] xref: BIRNLEX:20 xref: EMAPA:37441 {source="MA:th"} xref: FMA:280556 xref: GAID:266 xref: galen:BodyFluid xref: MESH:D001826 xref: Wikipedia:Body_fluid is_a: UBERON:0001062 ! anatomical entity relationship: part_of UBERON:0000468 ! multicellular organism [Term] id: UBERON:0006334 name: posterior lateral line namespace: uberon def: "One of eight distinct lateral lines in the 4-day larva. A sensory system on the surface of the fish, consisting of small sensory patches (neuromasts) distributed in discrete lines over the body surface. The lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance." [ZFA:0000944] subset: dubious_grouping subset: efo_slim synonym: "pll" EXACT [ZFA:0000944] xref: AAO:0011024 xref: EFO:0003595 xref: HBA:4413 xref: TAO:0000944 xref: XAO:0000465 xref: ZFA:0000944 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0002540 ! lateral line system property_value: axiom_lost_from_external_ontology "relationship loss: develops_from posterior lateral line primordium (TAO:0001157)[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000944", ontology="TAO"} property_value: axiom_lost_from_external_ontology "relationship loss: part_of posterior lateral line system (TAO:0001471)[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000944", ontology="TAO"} property_value: external_definition "One of eight distinct lateral lines in the 4-day larva. A sensory system on the surface of the fish, consisting of small sensory patches (neuromasts) distributed in discrete lines over the body surface. The lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance. (See Anatomical Atlas entry for lateral line by T. Whitfield.)[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000944", ontology="TAO", source="ZFIN:curator"} property_value: IAO:0000116 "check XAO/AAO" xsd:string [Term] id: UBERON:0006479 name: Brodmann (1909) area 38 namespace: uberon def: "Brodmann area 38, also BA38 or temporopolar area 38 (H), is part of the temporal cortex in the human brain. BA 38 is at the anterior end of the temporal lobe, known as the temporal pole. BA38 is a subdivision of the cytoarchitecturally defined temporal region of cerebral cortex. It is located primarily in the most rostral portions of the superior temporal gyrus and the middle temporal gyrus. Cytoarchitecturally it is bounded caudally by the inferior temporal area 20, the middle temporal area 21, the superior temporal area 22 and the ectorhinal area 36 (Brodmann-1909). Cytoarchitectonic and chemoarchitectonic studies find that it contains at least seven subareas, one of which, TG, is unique to humans. 'The functional significance of this area TG is not known, but it may bind complex, highly processed perceptual inputs to visceral emotional responses.' This area is among the earliest affected by Alzheimer's disease and the earliest involved at the start of temporal lobe seizures." [PMID:22421014, Wikipedia:Brodmann_area_38] synonym: "anterior end of the temporal lobe" EXACT [WikipediaVersioned:Brodmann_area_38&oldid=984922149] synonym: "anterior temporal lobe" EXACT [WikipediaVersioned:Brodmann_area_38&oldid=984922149] synonym: "area 38 of Brodmann" EXACT [FMA:68635] synonym: "area 38 of Brodmann-1909" EXACT [BIRNLEX:1771] synonym: "area temporopolaris" EXACT [BIRNLEX:1771] synonym: "B09-38" BROAD ABBREVIATION [BIRNLEX:1771, NIFSTD:SumsDB_abbrevSource] synonym: "B09-38" EXACT [BIRNLEX:1771] synonym: "BA38" EXACT ABBREVIATION [] synonym: "Brodmann (1909) area 38" EXACT [BIRNLEX:1771] synonym: "Brodmann area 38" EXACT [FMA:68635] synonym: "Brodmann area 38, temporopolar" EXACT [BIRNLEX:1771] synonym: "temporal pole" RELATED [WikipediaVersioned:Brodmann_area_38&oldid=984922149] synonym: "temporopolar area 38" EXACT [FMA:68635] synonym: "temporopolar area 38 (H)" EXACT [WikipediaVersioned:Brodmann_area_38&oldid=984922149] xref: BIRNLEX:1771 xref: FMA:68635 xref: neuronames:2412 xref: SCTID:384793008 xref: UMLS:C1272499 {source="BIRNLEX:1771"} xref: Wikipedia:Brodmann_area_38 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0000956 ! cerebral cortex relationship: part_of UBERON:0001016 ! nervous system [Term] id: UBERON:0006483 name: Brodmann (1909) area 46 namespace: uberon def: "Brodmann area 46, or BA46, is part of the frontal cortex in the human brain. It is between BA10 and BA45. BA46 is known as middle frontal area 46. In the human it occupies approximately the middle third of the middle frontal gyrus and the most rostral portion of the inferior frontal gyrus. Brodmann area 46 roughly corresponds with the dorsolateral prefrontal cortex (DLPFC), although the borders of area 46 are based on cytoarchitecture rather than function. The DLPFC also encompasses part of granular frontal area 9, directly adjacent on the dorsal surface of the cortex. Cytoarchitecturally, BA46 is bounded dorsally by the granular frontal area 9, rostroventrally by the frontopolar area 10 and caudally by the triangular area 45 (Brodmann-1909). There is some discrepancy between the extent of BA8 (Brodmann-1905) and the same area as described by Walker (1940)." [Wikipedia:Brodmann_area_46] synonym: "area 46" RELATED [FMA:68643] synonym: "area 46 of Brodmann" EXACT [FMA:68643] synonym: "area 46 of Brodmann-1909" EXACT [BIRNLEX:1778] synonym: "area frontalis media" EXACT [BIRNLEX:1778] synonym: "B09-46" BROAD ABBREVIATION [BIRNLEX:1778, NIFSTD:SumsDB_abbrevSource] synonym: "B09-46" EXACT [BIRNLEX:1778] synonym: "BA46" EXACT ABBREVIATION [] synonym: "Brodmann (1909) area 46" EXACT [BIRNLEX:1778] synonym: "Brodmann area 46" EXACT [FMA:68643] synonym: "Brodmann area 46, middle frontal" EXACT [BIRNLEX:1778] synonym: "middle frontal area 46" EXACT [FMA:68643] synonym: "middle frontal area 46" RELATED [Wikipedia:Brodmann_area_46] xref: BIRNLEX:1778 xref: FMA:68643 xref: neuronames:2105 xref: SCTID:384806000 xref: UMLS:C1272512 {source="BIRNLEX:1778"} xref: Wikipedia:Brodmann_area_46 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0000956 ! cerebral cortex relationship: part_of UBERON:0001016 ! nervous system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/c/cd/Brodmann_area_46.png xsd:anyURI [Term] id: UBERON:0006530 name: seminal fluid namespace: uberon def: "A substance formed from the secretion of one or more glands of the male genital tract in which sperm cells are suspended." [http://orcid.org/0000-0002-6601-2165] synonym: "male genital fluid" RELATED [] synonym: "male genital secretion" RELATED [] synonym: "milt" NARROW [PMID:31287811, PMID:35203131] {http://purl.obolibrary.org/obo/IAO_0000232="A secretion from the glands of the male reproductive system in some aquatic animals that contains sperm and is sprayed onto the eggs."} synonym: "seminal fluid" RELATED [BTO:0001232] synonym: "seminal plasma" EXACT [BTO:0001232] xref: BTO:0001232 xref: CALOHA:TS-0918 xref: EMAPA:36543 xref: FMA:62967 xref: MA:0002523 xref: MAT:0000057 xref: MIAA:0000057 is_a: UBERON:0001062 ! anatomical entity relationship: part_of UBERON:0000468 ! multicellular organism property_value: IAO:0000232 "this ontology contains a number of subtypes of seminal fluid, defined according to glands (which are more taxonomically restricted)" xsd:string property_value: IAO:0000232 "we follow FMA and make this class a generic superclass of the secretions of different glands (prostate, bulbo-urethreal, seminal vesicle). MA (and ncit) follows a mixture model, where these secretions are part of the seminal fluid" xsd:string property_value: taxon_notes "This term covers a variety of species. Example: In D. melanogaster, seminal fluid proteins affect female receptivity, ovulation, oogenesis, sperm storage, sperm competition and mating plug formation" xsd:string {source="DOI:10.1046/j.1365-2540.2001.00961.x"} property_value: UBPROP:0000009 "seminal fluid may have a role in sperm capacitation, sperm motility" xsd:string [Term] id: UBERON:0006558 name: lymphatic part of lymphoid system namespace: uberon def: "An organ system subdivision that is a network of vessels capable of removing accumulating protein and fluid from the interstitial space and returning it to the vascular space. In some species, this network is connected to the immune system via lymph nodes and lymphocyte-producing organs, with the whole being the lymphoid system." [http://orcid.org/0000-0002-6601-2165] subset: efo_slim subset: pheno_slim synonym: "lymphatic system" EXACT [FMA:7162, MA:0002435] synonym: "lymphatic tree system" EXACT [FMA:7162] synonym: "lymporeticular system" RELATED [VHOG:0001761] xref: AAO:0010522 xref: CALOHA:TS-2024 xref: EFO:0000870 xref: EMAPA:18248 xref: FMA:7162 xref: MA:0002961 xref: MESH:D008208 xref: SCTID:362597000 xref: VHOG:0001761 xref: Wikipedia:Lymphatic_system is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001009 ! circulatory system relationship: part_of UBERON:0002465 ! lymphoid system property_value: external_definition "Part of the circulatory system which consists of a series of vessels which collect blood (exclusive of erythrocytes) which seep through capillary walls and return it to the veins.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010522", ontology="AAO", source="AAO:BJB"} property_value: has_relational_adjective "lymporeticular" xsd:string property_value: IAO:0000116 "consider merging with lymph vasculature" xsd:string property_value: UBPROP:0000012 "in FMA this is part of the cardiovascular system, but here we treat the CV system as a separate component of the circulatory system from the lymphatic system" xsd:string {external_ontology="FMA"} [Term] id: UBERON:0006595 name: presumptive endoderm namespace: uberon def: "Presumptive structure of the blastula that will develop into endoderm." [http://orcid.org/0000-0002-6601-2165] subset: efo_slim xref: AAO:0000471 xref: EFO:0003437 xref: TAO:0000416 xref: ZFA:0000416 is_a: UBERON:0000061 ! anatomical structure is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo [Term] id: UBERON:0006596 name: presumptive blood namespace: uberon subset: efo_slim synonym: "future blood" EXACT [] xref: AAO:0000468 xref: EFO:0003439 xref: TAO:0000568 xref: ZFA:0000568 is_a: EFO:0003332 ! zebrafish embryonic structure is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo [Term] id: UBERON:0006597 name: quadrate bone namespace: uberon def: "Ossified pars articularis of the palatoquadrate cartilage." [AAO:0000525, Wikipedia:Quadrate_bone] subset: efo_slim synonym: "quadrate" EXACT [TAO:0000621] synonym: "quadrate - incus" BROAD [VHOG:0000689] synonym: "quadrate bone" EXACT [AAO:0000525] synonym: "quadrates" RELATED PLURAL [ZFA:0000621] xref: AAO:0000525 xref: EFO:0003547 xref: TAO:0000621 xref: VHOG:0000689 xref: Wikipedia:Quadrate_bone xref: ZFA:0000621 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001474 ! bone element relationship: never_in_taxon NCBITaxon:40674 relationship: part_of UBERON:0000033 ! head relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001007 ! digestive system relationship: part_of UBERON:0001434 ! skeletal system property_value: axiom_lost_from_external_ontology "relationship loss: overlaps quadrate-hyomandibula joint (TAO:0001801)[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000621", ontology="TAO"} property_value: axiom_lost_from_external_ontology "relationship loss: overlaps quadrate-metapterygoid joint (TAO:0001803)[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000621", ontology="TAO"} property_value: external_definition "Endochondral bone that commonly articulates with the ectopterygoid anteriorly, the metapterygoid dorsally, and the symplectic postero-medially. The quadrate is formed from the posterior part of the palatoquadrate cartilage, or pars quadrata. The quadrate is a paired bone.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000621", ontology="TAO", source="TAO:GA_TG"} property_value: homology_notes "According to this theory (Reichert-Gaupp theory), the mammalian stapes is derived from the reptilian columella, the incus from the quadrate and the malleus from the articular (...).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000689", ontology="VHOG", source="DOI:10.1017/S0022215100009087 Gerrie J, The phylogeny of the mammalian tympanic cavity and auditory ossicles. The Journal of Laryngology and Otology (1948", source="http://bgee.unil.ch/"} property_value: taxon_notes "In snakes, the quadrate bone has become elongated and very mobile, and contributes greatly to their ability to swallow very large prey items. In mammals the articular and quadrate bones have migrated to the middle ear and are known as the malleus and incus." xsd:string {source="TAO:0000621"} property_value: UBPROP:0000005 "The quadrate commonly has a triangular shape, with its lower vertex, or condyle, for articulation with the lower jaw, and an elongate postero-ventral or postero-dorsal elongate process. The presence of an elongate postero-ventral or postero-dorsal process is a synapomorphy of teleosts (Arratia and Schultze, 1990; Arratia, 1999).[TAO]" xsd:string {date_retrieved="2012-09-06", external_class="TAO:0000621", ontology="TAO", source="Curator"} property_value: UBPROP:0000012 "Endochondral bone that commonly articulates with the ectopterygoid anteriorly, the metapterygoid dorsally, and the symplectic postero-medially. The quadrate is formed from the posterior part of the palatoquadrate cartilage, or pars quadrata. The quadrate is a paired bone." xsd:string [Term] id: UBERON:0006599 name: presumptive hypochord namespace: uberon def: "Tissue is fated to develop into the hypochord." [http://orcid.org/0000-0002-6601-2165, ZFA:0001217] subset: efo_slim synonym: "future hypochord" EXACT [] xref: AAO:0000474 xref: AAO:0010625 xref: EFO:0003453 xref: TAO:0001217 xref: ZFA:0001217 is_a: EFO:0003332 ! zebrafish embryonic structure is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo property_value: external_definition "Tissue along the lateral edges of the shield that is fated to develop into the hypochord[ZFA:curator]." xsd:string {source="ZFA:0001217, ZFA:curator"} property_value: taxon_notes "Unlike in frogs and axolotl, the hypochord does not appear to be endodermally derived[ZFA]" xsd:string [Term] id: UBERON:0006600 name: presumptive enteric nervous system namespace: uberon subset: efo_slim synonym: "future enteric nervous system" EXACT [] xref: AAO:0000472 xref: EFO:0003462 xref: TAO:0001334 xref: ZFA:0001334 is_a: EFO:0003332 ! zebrafish embryonic structure is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo [Term] id: UBERON:0006601 name: presumptive ectoderm namespace: uberon def: "Presumptive structure of the blastula that will develop into ectoderm." [http://orcid.org/0000-0002-6601-2165] subset: efo_slim synonym: "presumptive epidermis" RELATED [ZFA:0001376] xref: AAO:0000470 xref: EFO:0003466 xref: TAO:0001376 xref: XAO:0004132 xref: ZFA:0001376 is_a: EFO:0003332 ! zebrafish embryonic structure is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo [Term] id: UBERON:0006603 name: presumptive mesoderm namespace: uberon def: "Presumptive structure of the blastula that will develop into mesoderm." [http://orcid.org/0000-0002-6601-2165] subset: efo_slim xref: AAO:0000476 xref: EFO:0003467 xref: TAO:0001377 xref: ZFA:0001377 is_a: EFO:0003332 ! zebrafish embryonic structure is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo [Term] id: UBERON:0006618 name: atrium auricular region namespace: uberon def: "A small conical pouch projections located on the upper anterior portion of each atrium of the heart." [MP:0010489, Wikipedia:Auricular_appendage] subset: pheno_slim synonym: "atrial appendage" EXACT [] synonym: "atrial auricle" EXACT [MP:0010489] synonym: "atrium appendage" EXACT [] synonym: "auricle of atrium" EXACT [FMA:77110] synonym: "auricle of heart" EXACT [FMA:77110] synonym: "auricula (cor)" EXACT [FMA:77110] synonym: "auricula atrii" EXACT LATIN [FMA:77110, FMA:TA] synonym: "auricular appendage" EXACT [] synonym: "cardiac auricle" EXACT [FMA:77110] synonym: "heart atrial appendage" EXACT [] synonym: "heart atrium auriclular region" EXACT [MP:0010489] xref: BTO:0002485 xref: EMAPA:36055 xref: FMA:77110 xref: MA:0002955 xref: SCTID:305223006 xref: Wikipedia:Auricular_appendage is_a: EFO:0001955 ! heart component relationship: part_of UBERON:0002081 ! cardiac atrium [Term] id: UBERON:0006676 name: muscularis mucosa namespace: uberon def: "A thin layer of smooth muscle found in most parts of the gastrointestinal tract, located outside the lamina propria mucosae and separating it from the submucosa[WP]." [Wikipedia:Muscularis_mucosae] synonym: "gut muscularis" EXACT [EMAPA:35385] synonym: "lamina muscularis mucosa" RELATED [BTO:0004839] synonym: "laminar muscularis mucosa" RELATED [Wikipedia:Muscularis_mucosae] synonym: "muscularis mucosae" EXACT [FMA:68413] xref: BTO:0004839 xref: EMAPA:35385 xref: FMA:68413 xref: galen:MuscularisMucosae xref: NCIT:C33149 xref: SCTID:370140002 xref: UMLS:C0225357 {source="ncithesaurus:Muscularis_Mucosa"} xref: Wikipedia:Muscularis_mucosae is_a: UBERON:0001135 ! smooth muscle tissue relationship: part_of UBERON:0005409 ! alimentary part of gastrointestinal system property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/5/54/Gray1058.png xsd:anyURI [Term] id: UBERON:0006761 name: corneo-scleral junction namespace: uberon def: "The edge of the cornea where it joins the sclera; the limbus is a common site for the occurrence of corneal epithelial neoplasm." [MP:0013477] comment: This location has parts such as blood vessels etc. See PMC2868485, http://www.ncbi.nlm.nih.gov/pubmed/2695343 subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: vertebrate_core synonym: "cornea limbus" EXACT [] synonym: "corneal limbus" EXACT [FMA:58342, GAID:896] synonym: "corneal-scleral limbus" EXACT [PMID:17051547] synonym: "corneoscleral junction" EXACT [GAID:896] synonym: "limbus corneae" EXACT LATIN [Wikipedia:Corneal_limbus] synonym: "limbus corneae" RELATED LATIN [Wikipedia:Corneal_limbus] synonym: "sclerocorneal junction" EXACT [FMA:58342] synonym: "sclerocorneal limbus" EXACT [GAID:896] xref: EFO:0001403 xref: EMAPA:37835 {source="MA:th"} xref: FMA:58342 xref: GAID:896 xref: MESH:D016850 xref: SCTID:63716004 xref: Wikipedia:Corneal_limbus xref: ZFA:0005570 is_a: UBERON:0000061 ! anatomical structure property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/3/3d/Limbus.png xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0006763 name: epithelium of conjunctiva namespace: uberon def: "Layer of nonkeratinized squamous epithelium lining the conjunctiva, overlying scleral tissue." [http://orcid.org/0000-0002-6601-2165] subset: efo_slim subset: pheno_slim synonym: "conjunctiva epithelium" EXACT [FMA:62131] synonym: "conjunctival epithelium" EXACT [BTO:0005131] xref: BTO:0005131 xref: EFO:0001916 xref: FMA:62131 xref: NCIT:C32365 xref: UMLS:C1179037 {source="ncithesaurus:Conjunctival_Epithelium"} is_a: UBERON:0000483 ! epithelium intersection_of: UBERON:0000483 ! epithelium intersection_of: part_of UBERON:0001811 ! conjunctiva relationship: part_of UBERON:0000970 ! eye relationship: part_of UBERON:0001811 ! conjunctiva [Term] id: UBERON:0006841 name: central vein of liver namespace: uberon def: "Vein that is central to a lobule in the liver." [ZFA:0005168] subset: human_reference_atlas subset: vertebrate_core synonym: "central vein" BROAD [ZFA:0005168] synonym: "terminal branch of hepatic vein" EXACT [FMA:17544] synonym: "terminal hepatic venule" EXACT [FMA:17544] synonym: "vena centralis (hepar)" EXACT [FMA:17544] xref: FMA:17544 xref: NCIT:C32281 xref: SCTID:272023004 xref: TAO:0005168 xref: Wikipedia:Central_veins_of_liver xref: ZFA:0005168 is_a: UBERON:0001638 ! vein relationship: part_of UBERON:0000916 ! abdomen relationship: part_of UBERON:0002100 ! trunk relationship: part_of UBERON:0002107 ! liver relationship: part_of UBERON:0004647 ! liver lobule property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0006849 name: scapula namespace: uberon alt_id: UBERON:0001124 alt_id: UBERON:0010904 def: "Endochondral bone that is dorsoventrally compressed and provides attachment site for muscles of the pectoral appendage." [https://github.com/obophenotype/uberon/issues/204, https://github.com/obophenotype/uberon/issues/339, VSAO:0000157] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim synonym: "scapula bone" RELATED [BTO:0001218] synonym: "scapulae" EXACT PLURAL [ZFA:0000583] synonym: "scapulas" RELATED PLURAL [TAO:0000583] synonym: "shoulder blade" NARROW [] xref: AAO:0000751 xref: BTO:0001218 xref: CALOHA:TS-0897 xref: EFO:0001400 xref: EMAPA:18722 xref: FMA:13394 xref: GAID:186 xref: galen:Scapula xref: MA:0001330 xref: MESH:D012540 xref: NCIT:C12783 xref: SCTID:302517007 xref: TAO:0000583 xref: UMLS:C0036277 {source="ncithesaurus:Scapula"} xref: VHOG:0001398 xref: VSAO:0000157 xref: Wikipedia:Scapula xref: ZFA:0000583 is_a: UBERON:0001474 ! bone element relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001434 ! skeletal system relationship: part_of UBERON:0002091 ! appendicular skeleton property_value: axiom_lost_from_external_ontology "relationship loss: has pars glenoidalis of scapula (AAO:0000753)[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000751", ontology="AAO"} property_value: axiom_lost_from_external_ontology "relationship loss: part_of scapular area (AAO:0000935)[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000751", ontology="AAO"} property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/5/59/Pectoral_girdles-en.svg xsd:anyURI property_value: external_definition "Endochondral bone that is located medial to the cleithrum, and articulates ventrally with the coracoid, medially with the mesocoracoid when the later is present and posteriorly with the upper one to three proximal radials. The scapula develops from the scapulocoracoid cartilage and belongs to the primary pectoral girdle. It may be perforated by the scapular foramen or it may be notched ventr and forms together with a similar notch of the coracoid the scapulocoracoid foramen[TAO:0000583]." xsd:string {source="TAO:0000583"} property_value: external_definition "Paired bony elements of endochondral origin. They are situated at the level of the jaw articulation, in a vertical position, with the suprascapular margin being dorsal and the glenoid end being ventral.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0000751", ontology="AAO", source="AAO:LAP"} property_value: has_relational_adjective "scapular" xsd:string property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "present in all tetrapods with even vestiges of anterior limbs, e.g., turtles & birds & mammals." xsd:string {source="ISBN:978-0-12-319060-4"} property_value: UBPROP:0000011 "chick scapula is of dual origin and segmentally organized" xsd:string [Term] id: UBERON:0006860 name: swim bladder namespace: uberon alt_id: UBERON:0008980 def: "A thin membranous, sometimes alveolated sac in the dorsal portion of the abdominal cavity. Contains a varying mixture of gases, not identical to the composition of air. May be one, two or three chambered. May be connected to the gut by a tube, the ductus pneumaticus (then called physostomous) or unconnected (then called physoclistous)." [http://www.briancoad.com/Dictionary/S.htm] subset: efo_slim subset: organ_slim synonym: "air bladder" RELATED [TAO:0000076] synonym: "fish maw" RELATED [] synonym: "gas bladder" EXACT [http://www.briancoad.com/Dictionary/S.htm, ZFA:0000076] synonym: "swimbladder" EXACT [TAO:0000076] xref: BTO:0001607 xref: BTO:0002148 xref: EFO:0003483 xref: SCTID:64748009 xref: TAO:0000076 xref: VHOG:0000310 xref: ZFA:0000076 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0002100 ! trunk property_value: external_definition "Cavitated compound organ that is double-chambered, located in the coelom and used to maintain buoyancy and may function as an acoustic resonator.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000076", ontology="TAO", source="ZFIN:curator"} property_value: homology_notes "Lungs had already developed as paired ventral pockets from the intestine in the ancestor of Osteognathostomata. (...) In actinopterygian fishes, apart from Cladistia, the ventral intestinal pocket migrates dorsally and becomes the swim-bladder, a mainly hydrostatical organ (reference 1); Comparative transcriptome analyses indicate molecular homology of zebrafish swimbladder and Mammalian lung (reference 2).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000310", ontology="VHOG", source="ISBN:978-0198566694 Schmidt-Rhaesa A, The evolution of organ systems (2007) p.210, DOI:10.1371/journal.pone.0024019 Zheng W, Wang Z, Collins JE, Andrews RM, Stemple D, Gong Z, Comparative transcriptome analyses indicate molecular homology of zebrafish swimbladder and Mammalian lung. PLoS One (2011)", source="http://bgee.unil.ch/"} property_value: taxon_notes "Found in Actinopterygii. Often lacking in bottom fishes" xsd:string property_value: UBPROP:0000009 "May function as one or more of: hydrostatic organ, sound producing organ, sound receptor, respiratory organ" xsd:string [Term] id: UBERON:0006862 name: diaphysis of femur namespace: uberon def: "A diaphysis that is part of a femur[Automatically generated definition]." [OBOL:automatic, Wikipedia:Body_of_femur] subset: pheno_slim synonym: "body of femur" EXACT [FMA:32847] synonym: "corpus femoris" EXACT LATIN [FMA:32847, FMA:TA] synonym: "femoral diaphysis" EXACT [FMA:32847] synonym: "femoral shaft" EXACT [] synonym: "shaft of femur" EXACT [FMA:32847] xref: EMAPA:37538 {source="MA:th"} xref: FMA:32847 xref: MA:0003055 xref: NCIT:C96209 xref: SCTID:182048009 xref: Wikipedia:Body_of_femur is_a: EFO:0003858 ! skeleton structure relationship: part_of UBERON:0000981 ! femur relationship: part_of UBERON:0001474 ! bone element property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/2/2b/Gray244.png xsd:anyURI property_value: external_definition "The body of the femur (or shaft), almost cylindrical in form, is a little broader above than in the center, broadest and somewhat flattened from before backward below. It is slightly arched, so as to be convex in front, and concave behind, where it is strengthened by a prominent longitudinal ridge, the linea aspera. It presents for examination three borders, separating three surfaces. Of the borders, one, the linea aspera, is posterior, one is medial, and the other, lateral[Wikipedia:Body_of_femur]." xsd:string {source="Wikipedia:Body_of_femur"} [Term] id: UBERON:0006865 name: metaphysis of femur namespace: uberon def: "A metaphysis that is part of a femur." [OBOL:automatic] subset: pheno_slim synonym: "femoral metaphysis" EXACT [FMA:32875] xref: EMAPA:37540 {source="MA:th"} xref: FMA:32875 xref: MA:0003052 is_a: EFO:0003858 ! skeleton structure relationship: part_of UBERON:0000981 ! femur relationship: part_of UBERON:0001474 ! bone element relationship: part_of UBERON:0006862 ! diaphysis of femur [Term] id: UBERON:0006904 name: head mesenchyme from mesoderm namespace: uberon def: "A head mesenchyme that develops_from a mesoderm." [OBOL:automatic] subset: efo_slim subset: vertebrate_core synonym: "cranial mesoderm" RELATED [UBERON:0005280] synonym: "head mesenchyme derived from mesoderm" EXACT [] synonym: "head mesenchyme from head mesoderm" EXACT [EHDAA2:0001118] synonym: "head mesenchyme from mesoderm" EXACT [] synonym: "head mesoderm" RELATED [AAO:0011051, UBERON:0005280] synonym: "mesenchyme derived from head mesoderm" EXACT [EHDAA:1057] synonym: "mesenchyme from head mesoderm" EXACT [] xref: AAO:0011051 xref: EFO:0003337 xref: EFO:0003603 xref: EHDAA2:0001118 xref: EHDAA:655 xref: EMAPA:16099 xref: EMAPA_RETIRED:16270 xref: FMA:293859 xref: TAO:0000998 xref: VHOG:0000185 xref: XAO:0000053 xref: ZFA:0000998 is_a: UBERON:0005253 ! head mesenchyme property_value: IAO:0000116 "merged in 'head mesoderm' from XAO/AAO and EFO here. Partially implements https://github.com/obophenotype/uberon/wiki/The-neural-crest NC meeting scheme" xsd:string [Term] id: UBERON:0006908 name: fast muscle tissue namespace: uberon def: "The paler-colored muscle tissue of some mammals, composed of fast twitch muscle fibers." [BTO:0002318] comment: The fast and slow skeletal muscles are different in terms of twitching speed (Fitts 1994), and they are believed to be derived from distinct myogenic precursors (Stockdale 1992) synonym: "fast muscle" EXACT [BTO:0002318] synonym: "fast skeletal muscle tissue" EXACT [] synonym: "white muscle" RELATED [BTO:0002318] xref: BTO:0002318 xref: NCIT:C12613 xref: UMLS:C0242873 {source="ncithesaurus:Muscle_Fibers_Fast-Twitch"} is_a: UBERON:0001134 ! skeletal muscle tissue [Term] id: UBERON:0006965 name: vascular cord namespace: uberon def: "The vascular cord is the primordial vasculature that will develop into blood vessels by the process of tubulogenesis[GO]. The vascular cord is composed of angioblast or vascular endothelial cells in a solid linear mass called a cord. The cord then undergoes tubulogenesis to form the lumen of the vessels[ZFA]." [GO:0072360, ZFA:0005077] subset: efo_slim xref: EFO:0003709 xref: TAO:0005077 xref: ZFA:0005077 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0014903 ! primordial vasculature [Term] id: UBERON:0007097 name: chordo neural hinge namespace: uberon def: "Portion of tissue that is posterior to the developing notochord during tail bud extension." [http://dev.biologists.org/content/136/10/1591.full, ZFA:0001082] subset: efo_slim synonym: "chordoneural hinge" EXACT [VHOG:0001382] synonym: "CNH" EXACT ABBREVIATION [XAO:0000108] xref: EFO:0003623 xref: TAO:0001082 xref: VHOG:0001382 xref: XAO:0000108 xref: ZFA:0001082 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0002533 ! post-anal tail bud property_value: external_definition "Portion of tissue is a posterior to the developing notochord during tailbud extension.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0001082", ontology="TAO", source="ZFIN:curator"} property_value: homology_notes "Although there is mounting evidence showing the comparability of events and formation of different nascent tissue types during gastrulation and tail development, recent work also suggests the presence of an ongoing stem cell population capable of contributing to multiple tissue types in the tail of several different vertebrates, situated in the chordoneural hinge region of the tail bud. It would seem likely that secondary signaling centers regulate the fate to be adopted by such pluripotent progenitors.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001382", ontology="VHOG", source="DOI:10.1002/dvdy.20017 Liu C, Knezevic V, Mackem S, Ventral tail bud mesenchyme is a signaling for tail paraxial mesoderm induction. Developmental Dynamics (2004)", source="http://bgee.unil.ch/"} property_value: taxon_notes "In mouse and chick, the derivative of the NSB (with a minor contribution from the CLE), the `chordo-neural-hinge'(CNH) (Cambray and Wilson, 2007; Catala et al., 1995; Charrier et al., 1999), contains progenitors for the ventral neural tube, somites and notochord (Cambray and Wilson, 2002; McGrew et al., 2008). The CNH is continuous with the most recently formed neural tube and notochord. By contrast, the tissue immediately caudal to the CNH exclusively produces somites in mouse and chick (McGrew et al., 2008)." xsd:string [Term] id: UBERON:0007106 name: chorionic villus namespace: uberon def: "One of the minute vascular projections of the fetal chorion that combines with maternal uterine tissue to form the placenta." [BTO:0001161, Wikipedia:Chorionic_villi] subset: human_reference_atlas synonym: "chorionic villi" RELATED PLURAL [MESH:A16.254.403.473.200] synonym: "chorionic villous" RELATED [Wikipedia:Chorionic_villi] synonym: "chorionic villus" RELATED [GAID:1300] synonym: "embryonic part of placenta" RELATED [http://orcid.org/0000-0002-6601-2165] synonym: "embryonic placenta" RELATED [http://orcid.org/0000-0002-6601-2165] synonym: "fetal part of placenta" RELATED [http://orcid.org/0000-0002-6601-2165] synonym: "fetal placenta" RELATED [http://orcid.org/0000-0002-6601-2165] synonym: "placental villi" RELATED PLURAL [GAID:1300] synonym: "placental villous" RELATED [] synonym: "placental villus" RELATED [GAID:1300] synonym: "villous chorion" RELATED [] synonym: "villous of placenta" RELATED [] xref: BTO:0001161 xref: EHDAA2:0004717 xref: MESH:D002824 xref: NCIT:C34125 xref: SCTID:360403003 xref: UMLS:C0008508 {source="ncithesaurus:Chorionic_Villus"} xref: Wikipedia:Chorionic_villi is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0003124 ! chorion membrane relationship: part_of UBERON:0004027 ! chorionic plate property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/1/1e/Gray29.png xsd:anyURI property_value: RO:0002175 NCBITaxon:9606 property_value: taxon_notes "The mouse and human placentas have labyrinthine and villous types of interdigitation between maternal and fetal tissues, respectively" xsd:string property_value: UBPROP:0000010 "The bulk of the villi consist of connective tissues in which blood vessels are found. Most of the cells in the connective tissue core of the villi are fibroblasts. Macrophages known as Hofbauer cells are also present." xsd:string [Term] id: UBERON:0007113 name: venom namespace: uberon def: "Poisonous animal secretions forming fluid mixtures of many different enzymes, toxins, and other substances. These substances are produced in specialized glands and secreted through specialized delivery systems (nematocysts, spines, fangs, etc.) for disabling prey or predator." [MESH:A12.200.935, Wikipedia:Venom] subset: grouping_class synonym: "zootoxin" RELATED [Wikipedia:Venom] xref: BTO:0001439 xref: MESH:D014688 xref: Wikipedia:Venom is_a: UBERON:0001062 ! anatomical entity relationship: never_in_taxon NCBITaxon:9606 ! Homo sapiens relationship: part_of UBERON:0000468 ! multicellular organism property_value: IAO:0000232 "Note we include a separate class for snake venom" xsd:string property_value: RO:0002175 NCBITaxon:264759 {source="Wikipedia"} property_value: RO:0002175 NCBITaxon:6656 property_value: RO:0002175 NCBITaxon:7898 property_value: RO:0002175 NCBITaxon:79805 {source="Wikipedia"} property_value: RO:0002175 NCBITaxon:8314 property_value: RO:0002175 NCBITaxon:9257 [Term] id: UBERON:0007122 name: pharyngeal pouch 1 namespace: uberon alt_id: UBERON:0005718 def: "A pharyngeal pouch that is between pharyngeal arches 1 and 2." [ISBN:0124020607, PMID:16313389, VHOG:0000970] subset: efo_slim subset: pheno_slim subset: vertebrate_core synonym: "1st arch branchial pouch" EXACT [EHDAA2:0000013] synonym: "1st arch branchial pouch endoderm" EXACT [EHDAA2:0000016] synonym: "1st arch pouch endoderm" EXACT [EHDAA2:0000016] synonym: "1st branchial pouch" EXACT [] synonym: "1st pharyngeal pouch endoderm" EXACT [VHOG:0000555] synonym: "first arch pharyngeal pouch" EXACT [OBOL:automatic] synonym: "first pharyngeal pouch" RELATED [VHOG:0000970] synonym: "first visceral pouch" EXACT [XAO:0000102] synonym: "hyomandibular pouch" EXACT [] synonym: "pharyngeal pouches 1" EXACT PLURAL [ZFA:0001128] synonym: "visceral pouch 1" EXACT [XAO:0000102] xref: AAO:0011114 xref: EFO:0003631 xref: EHDAA2:0000016 xref: EMAPA:16124 xref: EMAPA:16125 xref: FMA:295668 xref: NCIT:C34176 xref: SCTID:345248006 xref: TAO:0001128 xref: UMLS:C0231068 {source="ncithesaurus:First_Pharyngeal_Pouch"} xref: VHOG:0000555 xref: VHOG:0000970 xref: Wikipedia:Pharyngeal_pouch_(embryology)#First_pouch xref: XAO:0000102 xref: ZFA:0001128 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0004117 ! pharyngeal pouch property_value: external_definition ". [][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000970", ontology="VHOG", source="http://bgee.unil.ch/"} property_value: homology_notes "In all jawed vertebrates the first arch forms the jaw, while the second arch forms the hyoid apparatus. These two arches are separated by the first pharyngeal pouch and cleft.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000970", ontology="VHOG", source="DOI:10.1016/j.semcdb.2010.01.022 Grevellec A, Tucker AS, The pharyngeal pouches and clefts: development, evolution, structure and derivatives. Seminars in Cell and Developmental Biology (2010)", source="http://bgee.unil.ch/"} property_value: UBPROP:0000011 "The endoderm lines the future auditory tube (Pharyngotympanic Eustachian tube) , middle ear, mastoid antrum, and inner layer of the tympanic membrane. & origin of Mandibular nerve & Maxillary artery" xsd:string {source="WP"} property_value: UBPROP:0000012 "we use adjacency relations rather than part_of, as in EHDAA2." xsd:string {external_ontology="EHDAA2"} [Term] id: UBERON:0007123 name: pharyngeal pouch 2 namespace: uberon alt_id: UBERON:0005715 def: "A pharyngeal puch that is between the pharyngeal arches 2 and 3." [ISBN:0124020607, PMID:16313389] subset: efo_slim subset: pheno_slim subset: vertebrate_core synonym: "2nd arch branchial pouch" EXACT [RETIRED_EHDAA2:0000060] synonym: "2nd arch branchial pouch endoderm" EXACT [EHDAA2:0000061] synonym: "2nd arch pouch endoderm" EXACT [EHDAA2:0000058] synonym: "2nd branchial pouch" EXACT [] synonym: "2nd pharyngeal pouch endoderm" EXACT [VHOG:0000561] synonym: "pharyngeal pouches 2" EXACT PLURAL [ZFA:0001130] synonym: "second arch pharyngeal pouch" EXACT [OBOL:automatic] synonym: "second pharyngeal pouch" RELATED [VHOG:0000967] synonym: "second visceral pouch" EXACT [XAO:0000247] synonym: "visceral pouch 2" EXACT [XAO:0000247] xref: AAO:0011115 xref: EFO:0003633 xref: EHDAA2:0000058 xref: EMAPA:16275 xref: EMAPA:16276 xref: FMA:295676 xref: NCIT:C34289 xref: RETIRED_EHDAA2:0000060 xref: SCTID:345349000 xref: TAO:0001130 xref: UMLS:C0231069 {source="ncithesaurus:Second_Pharyngeal_Pouch"} xref: VHOG:0000561 xref: VHOG:0000967 xref: Wikipedia:Pharyngeal_pouch_(embryology)#Second_pouch xref: XAO:0000247 xref: ZFA:0001130 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0004117 ! pharyngeal pouch property_value: external_definition "A pouch that is situated between the 2nd and 3rd pharyngeal arch. [ISBN:0124020607][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000967", ontology="VHOG", source="http://bgee.unil.ch/"} property_value: external_definition "Second of the pharyngeal (endodermal) evaginations between the visceral arches from which the Eustachian tube is derived; pouches 2-4 open as gill slits.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0011115", ontology="AAO", source="ISBN:0-226-55763-4"} property_value: homology_notes "A conserved feature of all vertebrate embryos is the presence of a series of bulges on the lateral surface of the head, the pharyngeal arches; it is within these structures that the nerves, muscles and skeletal components of the pharyngeal apparatus are laid down. The pharyngeal arches are separated by endodermal outpocketings, the pharyngeal pouches.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000967", ontology="VHOG", source="DOI:10.1111/j.1469-7580.2005.00472.x Graham A, Okabe M and Quinlan R, The role of the endoderm in the development and evolution of the pharyngeal arches. J Anat (2005)", source="http://bgee.unil.ch/"} property_value: taxon_notes "the dorsal elongation of the second pouch endoderm of all mammals, with the exception of rodents, gives rise to the epithelial lining of palatine tonsils; in rodents, the ventral portion of the second pouch appears to degenerate whereas the remaining part is incorporated into the lateral border of the pharynx; it appears that rodents no longer require tonsils as their function is carried out by the NALT (Nose/Nasal-Associated Lymphoid Tissue) system in the upper respiratory tract." xsd:string property_value: UBPROP:0000011 "Contributes to the middle ear, epithelial lining of Crypts (spaces) of the palatine tonsils, supplied by the facial nerve" xsd:string {source="WP"} [Term] id: UBERON:0007124 name: pharyngeal pouch 3 namespace: uberon alt_id: UBERON:0005716 def: "A pharyngeal pouch that between pharyngeal arches 3 and 4." [ISBN:0124020607, PMID:16313389, Wikipedia:Pharyngeal_pouch_(embryology)#Third_pouch] subset: efo_slim subset: pheno_slim subset: vertebrate_core synonym: "3rd arch branchial pouch" EXACT [RETIRED_EHDAA2:0000076] synonym: "3rd arch branchial pouch endoderm" EXACT [EHDAA2:0000077] synonym: "3rd branchial pouch" EXACT [] synonym: "3rd pharyngeal pouch endoderm" EXACT [VHOG:0001030] synonym: "pharyngeal pouches 3" EXACT PLURAL [ZFA:0001131] synonym: "third arch pharyngeal pouch" EXACT [OBOL:automatic] synonym: "third pharyngeal pouch" RELATED [VHOG:0000966] synonym: "third visceral pouch" EXACT [XAO:0000251] synonym: "visceral pouch 3" EXACT [XAO:0000251] xref: AAO:0011116 xref: EFO:0003634 xref: EHDAA2:0000077 xref: EMAPA:16586 xref: FMA:295682 xref: NCIT:C34311 xref: RETIRED_EHDAA2:0000076 xref: SCTID:345450001 xref: TAO:0001131 xref: UMLS:C0231070 {source="ncithesaurus:Third_Pharyngeal_Pouch"} xref: VHOG:0000966 xref: VHOG:0001030 xref: Wikipedia:Pharyngeal_pouch_(embryology)#Third_pouch xref: XAO:0000251 xref: ZFA:0001131 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0004117 ! pharyngeal pouch property_value: external_definition "A pouch that is situated between the 3rd and 4th pharyngeal arch. [ISBN:0124020607][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000966", ontology="VHOG", source="http://bgee.unil.ch/"} property_value: external_definition "Third of the pharyngeal (endodermal) evaginations between the visceral arches from which the Eustachian tube is derived; pouches 2-4 open as gill slits.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0011116", ontology="AAO", source="ISBN:0-226-55763-4"} property_value: homology_notes "A conserved feature of all vertebrate embryos is the presence of a series of bulges on the lateral surface of the head, the pharyngeal arches; it is within these structures that the nerves, muscles and skeletal components of the pharyngeal apparatus are laid down. The pharyngeal arches are separated by endodermal outpocketings, the pharyngeal pouches.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000966", ontology="VHOG", source="DOI:10.1111/j.1469-7580.2005.00472.x Graham A, Okabe M and Quinlan R, The role of the endoderm in the development and evolution of the pharyngeal arches. J Anat (2005)", source="http://bgee.unil.ch/"} property_value: UBPROP:0000011 "The third pouch possesses Dorsal and Ventral wings. Derivatives of the dorsal wings include the inferior parathyroid glands, while the ventral wings fuse to form the cytoreticular cells of the thymus. The main nerve supply to the derivatives of this pouch is Cranial Nerve IX, glossopharyngeal nerve" xsd:string {source="WP"} [Term] id: UBERON:0007125 name: pharyngeal pouch 4 namespace: uberon def: "A pharyngeal pouch between pharyngeal arch 4 and arch 5 or 6 (a fifth arch never establishes in amniotes)." [ISBN:0124020607, PMID:16313389, Wikipedia:Pharyngeal_pouch_(embryology)#Fourth_pouch] subset: efo_slim subset: pheno_slim subset: vertebrate_core synonym: "4th arch branchial pouch" EXACT [RETIRED_EHDAA2:0000090] synonym: "4th arch branchial pouch endoderm" EXACT [EHDAA2:0000091] synonym: "4th branchial pouch" EXACT [] synonym: "4th pharyngeal pouch endoderm" EXACT [VHOG:0000578] synonym: "fourth arch pharyngeal pouch" EXACT [OBOL:automatic] synonym: "fourth branchial pouch" EXACT [] synonym: "fourth pharyngeal pouch" RELATED [VHOG:0000971] synonym: "fourth visceral pouch" EXACT [XAO:0000254] synonym: "pharyngeal pouches 4" EXACT PLURAL [ZFA:0001134] synonym: "visceral pouch 4" EXACT [XAO:0000254] xref: AAO:0011117 xref: EFO:0003637 xref: EHDAA2:0000091 xref: EMAPA:16766 xref: FMA:295688 xref: NCIT:C34181 xref: RETIRED_EHDAA2:0000090 xref: SCTID:362858001 xref: TAO:0001134 xref: UMLS:C0231071 {source="ncithesaurus:Fourth_Pharyngeal_Pouch"} xref: VHOG:0000578 xref: VHOG:0000971 xref: Wikipedia:Pharyngeal_pouch_(embryology)#Fourth_pouch xref: XAO:0000254 xref: ZFA:0001134 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0004117 ! pharyngeal pouch property_value: external_definition "A pouch that is situated between the 4th and 5th pharyngeal arch. [ISBN:0124020607][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000971", ontology="VHOG", source="http://bgee.unil.ch/"} property_value: external_definition "Fourth of the pharyngeal (endodermal) evaginations between the visceral arches from which the Eustachian tube is derived; pouches 2-4 open as gill slits.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0011117", ontology="AAO", source="ISBN:0-226-55763-4"} property_value: homology_notes "A conserved feature of all vertebrate embryos is the presence of a series of bulges on the lateral surface of the head, the pharyngeal arches; it is within these structures that the nerves, muscles and skeletal components of the pharyngeal apparatus are laid down. The pharyngeal arches are separated by endodermal outpocketings, the pharyngeal pouches.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000971", ontology="VHOG", source="DOI:10.1111/j.1469-7580.2005.00472.x Graham A, Okabe M and Quinlan R, The role of the endoderm in the development and evolution of the pharyngeal arches. J Anat (2005)", source="http://bgee.unil.ch/"} property_value: UBPROP:0000011 "Derivatives include: superior parathyroid glands and ultimobranchial body which forms the parafollicular C-Cells of the thyroid gland. Musculature and cartilage of larynx (along with the sixth pharyngeal pouch)[WP] in most mammals, excluding rodents, the dorsal part of each fourth pouch develops into a superior parathyroid gland (parathyroid IV), which lies on the dorsal surface of the thyroid gland (the parathyroid glands derived from the third pouches descend with the thymus and are carried to a more inferior position than the parathyroid glands that are derived from the fourth pouches); the elongated ventral part of each fourth pouch develops into the ultimopharyngeal body, which fuses with the thyroid gland, giving rise to the calcitonin-producing parafollicular or C-cells of the thyroid gland. In the mouse, but also in the rat and hamster, the dorsal fourth pouch does not generate a parathyroid. Thus, rodents develop only one pair of parathyroid glands." xsd:string {source="MP"} [Term] id: UBERON:0007126 name: pharyngeal pouch 5 namespace: uberon def: "A pharyngeal pouch between pharyngeal arches 5 and 6." [ISBN:0124020607] subset: efo_slim subset: vertebrate_core synonym: "5th branchial pouch" EXACT [] synonym: "5th pharyngeal pouch" RELATED [VHOG:0001206] synonym: "5th visceral pouch" RELATED [VHOG:0001206] synonym: "fifth pharyngeal pouch" RELATED [VHOG:0001206] synonym: "fifth visceral pouch" EXACT [XAO:0000255] synonym: "fifth visceral pouch" RELATED [VHOG:0001206] synonym: "pharyngeal pouches 5" EXACT PLURAL [ZFA:0001133] synonym: "visceral pouch 5" EXACT [XAO:0000255] xref: AAO:0011118 xref: EFO:0003636 xref: NCIT:C34174 xref: TAO:0001133 xref: UMLS:C1517185 {source="ncithesaurus:Fifth_Pharyngeal_Pouch"} xref: VHOG:0001206 xref: Wikipedia:Pharyngeal_pouch_(embryology)#Fifth_pouch xref: XAO:0000255 xref: ZFA:0001133 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0004117 ! pharyngeal pouch property_value: external_definition "Fifth of the pharyngeal (endodermal) evaginations between the visceral arches.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0011118", ontology="AAO", source="ISBN:0-226-55763-4"} property_value: homology_notes "A conserved feature of all vertebrate embryos is the presence of a series of bulges on the lateral surface of the head, the pharyngeal arches; it is within these structures that the nerves, muscles and skeletal components of the pharyngeal apparatus are laid down. The pharyngeal arches are separated by endodermal outpocketings, the pharyngeal pouches.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001206", ontology="VHOG", source="DOI:10.1111/j.1469-7580.2005.00472.x Graham A, Okabe M, Quinlan R, The role of the endoderm in the development and evolution of the pharyngeal arches. J Anat (2005)", source="http://bgee.unil.ch/"} property_value: UBPROP:0000011 "pouches 5 and 6 are hard to distinguish. Rudimentary structure, becomes part of the fourth pouch contributing to thyroid C-cells" xsd:string {source="WP"} [Term] id: UBERON:0007127 name: pharyngeal pouch 6 namespace: uberon def: "A pharyngeal pouch between pharyngeal arches 6 and 7." [http://orcid.org/0000-0002-6601-2165] subset: efo_slim subset: vertebrate_core synonym: "6th arch branchial pouch" EXACT [] synonym: "6th branchial pouch" EXACT [] synonym: "pharyngeal pouches 6" EXACT PLURAL [ZFA:0001132] synonym: "sixth visceral pouch" EXACT [XAO:0000265] synonym: "visceral pouch 6" EXACT [XAO:0000265] xref: AAO:0011119 xref: EFO:0003635 xref: TAO:0001132 xref: Wikipedia:Pharyngeal_pouch_(embryology)#Sixth_pouch xref: XAO:0000265 xref: ZFA:0001132 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0004117 ! pharyngeal pouch property_value: external_definition "Sixth of the pharyngeal (endodermal) evaginations between the visceral arches.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0011119", ontology="AAO", source="ISBN:0-226-55763-4"} property_value: taxon_notes "in humans pouches 5 and 6 are hard to distinguish." xsd:string {source="WP"} property_value: UBPROP:0000011 "Along with the fourth pouch, contributes to the formation of the musculature and cartilage of the larynx" xsd:string [Term] id: UBERON:0007134 name: trunk ganglion namespace: uberon def: "Ganglion which is located in the trunk." [ZFIN:curator] subset: efo_slim synonym: "body ganglion" EXACT [MAT:0000344] synonym: "trunk ganglia" EXACT PLURAL [ZFA:0001573] xref: EFO:0000901 xref: MAT:0000344 xref: MIAA:0000344 xref: TAO:0001573 xref: ZFA:0001573 is_a: UBERON:0000045 ! ganglion intersection_of: UBERON:0000045 ! ganglion intersection_of: part_of UBERON:0002100 ! trunk relationship: part_of UBERON:0002100 ! trunk [Term] id: UBERON:0007135 name: neural keel namespace: uberon def: "An intermediate stage (between the neural plate and neural rod) during the early segmentation period in the morphogenesis of the central nervous system primordium; the keel is roughly triangular shaped in cross section." [ZFIN:ZDB-PUB-961014-576] subset: efo_slim synonym: "presumptive central nervous system" RELATED [ZFA:0000131] xref: EFO:0003497 xref: TAO:0000131 xref: ZFA:0000131 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo property_value: external_definition "An intermediate stage (between the neural plate and neural rod) during the early segmentation period in the morphogenesis of the central nervous system primordium; the keel is roughly triangular shaped in cross section. Kimmel et al, 1995.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000131", ontology="TAO", source="ZFIN:curator"} [Term] id: UBERON:0007142 name: left internal carotid artery namespace: uberon def: "An internal carotid artery that branching_part_of a left common carotid artery plus branches." [OBOL:automatic] synonym: "arteria caritis interna sinistra" EXACT [FMA:4062] xref: EMAPA:16329 xref: FMA:4062 xref: SCTID:161452006 is_a: UBERON:0001532 ! internal carotid artery [Term] id: UBERON:0007143 name: right internal carotid artery namespace: uberon def: "An internal carotid artery that branching_part_of a right common carotid artery plus branches." [OBOL:automatic] synonym: "arteria carotis interna dextra" EXACT [FMA:3949] xref: EMAPA:16330 xref: FMA:3949 xref: SCTID:161251001 is_a: UBERON:0001532 ! internal carotid artery [Term] id: UBERON:0007213 name: mesenchyme derived from head neural crest namespace: uberon def: "Mesenchyme that develops_from a cranial neural crest." [OBOL:automatic] subset: efo_slim subset: vertebrate_core synonym: "head mesenchyme from cranial neural crest" EXACT [] synonym: "head mesenchyme from neural crest" EXACT [EHDAA2:0000735] synonym: "head neural crest derived mesenchyme" EXACT [] xref: EFO:0003572 xref: EHDAA2:0000735 xref: EMAPA:16169 xref: EMAPA:16271 xref: EMAPA_RETIRED:16271 xref: TAO:0000787 xref: ZFA:0000787 is_a: UBERON:0005253 ! head mesenchyme relationship: part_of UBERON:0000468 ! multicellular organism [Term] id: UBERON:0007220 name: late embryonic stage namespace: uberon def: "An embryo stage that covers late steps of the embryogenesis with a fully formed embryo still developing before birth or egg hatching." [https://orcid.org/0000-0003-3308-6245] synonym: "embryo late (growth) stage" EXACT [MIAA:0000399] synonym: "embryo late growth stage" RELATED [BTO:0000449] synonym: "embryo late stage" RELATED [BTO:0000449] synonym: "fetal stage" NARROW SENSU [https://orcid.org/0000-0002-6601-2165] synonym: "fetus" NARROW [MIAA:0000399] synonym: "fetus stage" NARROW SENSU [https://orcid.org/0000-0002-6601-2165] xref: EV:0300011 xref: EVM:2990031 xref: FBdv:00005333 xref: FMA:63631 xref: MIAA:0000399 xref: MmusDv:0000031 xref: OGES:000023 xref: SCTID:367619004 is_a: EFO:0000399 ! developmental stage property_value: seeAlso https://github.com/obophenotype/uberon/issues/355 xsd:anyURI property_value: seeAlso https://github.com/obophenotype/uberon/issues/565 xsd:anyURI [Term] id: UBERON:0007250 name: lingual tonsil namespace: uberon def: "The lymph tissue on the floor of the oropharyngeal passage, near the root of the tongue." [MGI:cwg, MP:0002385] subset: pheno_slim synonym: "lingual tonsillar tissue" EXACT [MA:0000773] synonym: "tonsilla lingualis" RELATED LATIN [Wikipedia:Lingual_tonsils] xref: FMA:54836 xref: MA:0000773 xref: NCIT:C32988 xref: SCTID:276957006 xref: UMLS:C0229871 {source="ncithesaurus:Lingual_Tonsil"} xref: Wikipedia:Lingual_tonsils is_a: EFO:0000792 ! craniofacial tissue is_a: UBERON:0002372 ! tonsil relationship: part_of UBERON:0001723 ! tongue property_value: depicted:by https://upload.wikimedia.org/wikipedia/commons/4/4c/Illu04_tongue.jpg xsd:anyURI [Term] id: UBERON:0007277 name: presumptive hindbrain namespace: uberon def: "The rhombencephalon (or hindbrain) is a developmental categorization of portions of the central nervous system in vertebrates. The rhombencephalon can be subdivided in a variable number of transversal swellings called rhombomeres. In the human embryo eight rhombomeres can be distinguished, from caudal to rostral: Rh7-Rh1 and the isthmus (the most rostral rhombomere). A rare disease of the rhombencephalon, 'rhombencephalosynapsis' is characterized by a missing vermis resulting in a fused cerebellum. Patients generally present with cerebellar ataxia. The caudal rhombencephalon has been generally considered as the initiation site for neural tube closure." [Wikipedia:Rhombencephalon] subset: efo_slim synonym: "embryonic rhombencephalon" RELATED [CALOHA:TS-2118] synonym: "future hindbrain" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "presumptive rhombencephalon" EXACT [ZFA:0000569] synonym: "rhombencephalon" RELATED [EHDAA2:0001630] xref: BAMS:HB xref: CALOHA:TS-2118 xref: EFO:0003440 xref: EHDAA2:0001630 xref: FMA:295640 xref: TAO:0000569 xref: Wikipedia:Rhombencephalon xref: ZFA:0000569 is_a: EFO:0003332 ! zebrafish embryonic structure is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0006238 ! future brain property_value: external_definition "The embryonic rhombencephalon can be subdivided in a variable number of transversal swellings called rhombomeres. Rhombomeres Rh7-Rh4 form the myelencephalon that will give the medulla oblongata. Rhombomeres Rh3-Rh1 form the metencephalon that will form the pons and the cerebellum[NPX:PDR]." xsd:string {source="NPX:PDR"} property_value: IAO:0000116 "TODO - unify naming conventions" xsd:string [Term] id: UBERON:0007281 name: presumptive midbrain hindbrain boundary namespace: uberon def: "Embryonic structure that gives rise to the midbrain hindbrain boundary." [ZFA:0001187] subset: efo_slim synonym: "presumptive MHB" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "presumptive midbrain-hindbrain boundary" EXACT [ZFA:0001187] xref: EFO:0003446 xref: TAO:0001187 xref: XAO:0004086 xref: ZFA:0001187 is_a: EFO:0003332 ! zebrafish embryonic structure is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0006238 ! future brain [Term] id: UBERON:0007282 name: presumptive segmental plate namespace: uberon def: "A presumptive structure that has the potential to develop into a presomitic mesoderm." [OBOL:automatic] subset: efo_slim synonym: "presumptive segmental plates" RELATED PLURAL [ZFA:0000053] xref: EFO:0003421 xref: TAO:0000053 xref: ZFA:0000053 is_a: EFO:0003332 ! zebrafish embryonic structure is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo [Term] id: UBERON:0007283 name: presumptive shield namespace: uberon def: "A presumptive structure that has the potential to develop into a primitive knot." [OBOL:automatic] subset: efo_slim xref: EFO:0003444 xref: TAO:0001121 xref: ZFA:0001121 is_a: EFO:0003332 ! zebrafish embryonic structure is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo property_value: external_definition "Presumptive structure fated to become the shield. Defined by fate mapping[ZFIN:curator]." xsd:string {source="ZFIN:curator"} [Term] id: UBERON:0007284 name: presumptive neural plate namespace: uberon def: "A presumptive structure that has the potential to develop into a neural plate." [OBOL:automatic] subset: efo_slim synonym: "prospective neuroectoderm" EXACT [ZFA:0000063] synonym: "prospective vegetal ectoderm" EXACT [ZFA:0000063] xref: EFO:0003424 xref: TAO:0000063 xref: ZFA:0000063 is_a: EFO:0003332 ! zebrafish embryonic structure is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo property_value: external_definition "Region of the gastrula which gives rise to the neural plate.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000063", ontology="TAO", source="ZFIN:curator"} property_value: IAO:0000116 "consider merging" xsd:string [Term] id: UBERON:0007285 name: presumptive paraxial mesoderm namespace: uberon def: "The part of the blastula that has the potential to develop into a paraxial mesoderm." [https://github.com/obophenotype/uberon/issues/1277, UBERON:cjm] subset: efo_slim synonym: "future paraxial mesenchyme" EXACT [UBERON:cjm] synonym: "future paraxial mesoderm" EXACT [] xref: EFO:0003443 xref: TAO:0000591 xref: XAO:0004134 xref: ZFA:0000591 is_a: EFO:0003332 ! zebrafish embryonic structure is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo [Term] id: UBERON:0007286 name: presumptive floor plate namespace: uberon def: "A presumptive structure that has the potential to develop into a floor plate." [OBOL:automatic] subset: efo_slim xref: EFO:0003454 xref: TAO:0001218 xref: ZFA:0001218 is_a: EFO:0003332 ! zebrafish embryonic structure is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo [Term] id: UBERON:0007288 name: presumptive forebrain midbrain boundary namespace: uberon def: "A presumptive structure that has the potential to develop into a forebrain-midbrain boundary." [OBOL:automatic] subset: efo_slim xref: EFO:0003463 xref: TAO:0001368 xref: ZFA:0001368 is_a: EFO:0003332 ! zebrafish embryonic structure is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0006238 ! future brain [Term] id: UBERON:0007290 name: presumptive rhombomere 3 namespace: uberon def: "A presumptive structure that has the potential to develop into a rhombomere 3." [OBOL:automatic] subset: efo_slim xref: EFO:0003451 xref: TAO:0001213 xref: ZFA:0001213 is_a: EFO:0003332 ! zebrafish embryonic structure is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo [Term] id: UBERON:0007291 name: presumptive rhombomere 4 namespace: uberon def: "A presumptive structure that has the potential to develop into a rhombomere 4." [OBOL:automatic] subset: efo_slim xref: EFO:0003450 xref: TAO:0001212 xref: ZFA:0001212 is_a: EFO:0003332 ! zebrafish embryonic structure is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo [Term] id: UBERON:0007292 name: presumptive rhombomere 5 namespace: uberon def: "A presumptive structure that has the potential to develop into a rhombomere 5." [OBOL:automatic] subset: efo_slim xref: EFO:0003449 xref: TAO:0001211 xref: ZFA:0001211 is_a: EFO:0003332 ! zebrafish embryonic structure is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo [Term] id: UBERON:0007293 name: presumptive rhombomere 6 namespace: uberon def: "A presumptive structure that has the potential to develop into a rhombomere 6." [OBOL:automatic] subset: efo_slim xref: EFO:0003448 xref: TAO:0001210 xref: ZFA:0001210 is_a: EFO:0003332 ! zebrafish embryonic structure is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo [Term] id: UBERON:0007294 name: presumptive rhombomere 7 namespace: uberon def: "A presumptive structure that has the potential to develop into a rhombomere 7." [OBOL:automatic] subset: efo_slim xref: EFO:0003447 xref: TAO:0001209 xref: ZFA:0001209 is_a: EFO:0003332 ! zebrafish embryonic structure is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo [Term] id: UBERON:0007295 name: presumptive rhombomere 8 namespace: uberon def: "A presumptive structure that has the potential to develop into a rhombomere 8." [OBOL:automatic] subset: efo_slim xref: EFO:0003452 xref: TAO:0001214 xref: ZFA:0001214 is_a: EFO:0003332 ! zebrafish embryonic structure is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo [Term] id: UBERON:0007297 name: presumptive pronephric mesoderm namespace: uberon def: "A presumptive structure that has the potential to develop into a pronephric mesoderm." [OBOL:automatic] subset: efo_slim synonym: "nephron primordium" EXACT [ZFA:0001070] xref: EFO:0003619 xref: TAO:0001070 xref: ZFA:0001070 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo [Term] id: UBERON:0007329 name: pancreatic duct namespace: uberon def: "A duct that collects and carries secretions of the exocrine pancreas to the intestine." [GOC:cvs, GOC:ymb, https://github.com/obophenotype/uberon/issues/1250, https://orcid.org/0000-0002-2244-7917, https://orcid.org/0000-0002-6601-2165, https://orcid.org/0000-0002-9900-7880, Wikipedia:Pancreatic_duct] subset: human_reference_atlas subset: pheno_slim subset: vertebrate_core synonym: "duct of pancreas" EXACT [OBOL:accepted] synonym: "ductus pancreaticus" RELATED LATIN [Wikipedia:Pancreatic_duct] synonym: "pancreas duct" EXACT [OBOL:accepted] xref: EHDAA:9194 xref: EMAPA:32952 xref: FMA:10419 xref: MA:0000124 xref: MESH:D010183 xref: SCTID:181278006 xref: TAO:0001372 xref: VHOG:0000254 xref: Wikipedia:Pancreatic_duct xref: ZFA:0001372 is_a: EFO:0003861 ! pancreactic component relationship: part_of UBERON:0001007 ! digestive system relationship: part_of UBERON:0001264 ! pancreas property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/1/15/Gray1100.png xsd:anyURI property_value: external_definition "Duct connecting the pancreas with the intestine. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000254", ontology="VHOG", source="http://bgee.unil.ch/"} property_value: homology_notes "These data show that ducts within the zebrafish pancreas originally arise in situ from isolated progenitor cells rather than arising from reiterative branching of the pancreatic epithelium. This process of pancreatic duct formation in zebrafish may be analogous to the mechanism of duct formation in the mammalian mammary and salivary glands. (...) A related mechanism of duct formation has also been proposed to occur within the mammalian pancreatic epithelium.[uncertain][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000254", ontology="VHOG", source="DOI:10.1016/j.ydbio.2005.04.035 Yee NS, Lorent K, Pack M, Exocrine pancreas development in zebrafish. Developmental Biology (2005)", source="http://bgee.unil.ch/"} property_value: IAO:0000232 "this class groups together accessory (dorsal) and main (ventral) pancreatic ducts" xsd:string property_value: RO:0002175 NCBITaxon:9606 property_value: UBPROP:0000012 "in EHDAA2, the dorsal and ventral ducts are classified as epithelial sacs - review after overhaul of duct/epithelia terms" xsd:string {external_ontology="EHDAA2"} [Term] id: UBERON:0007383 name: enveloping layer of ectoderm namespace: uberon def: "Outermost layer of cells surrounding the embryo." [http://orcid.org/0000-0002-6601-2165] subset: efo_slim synonym: "enveloping layer" EXACT [ZFIN:ZDB-PUB-961014-576] synonym: "EVL" EXACT [ZFA:0000086] xref: EFO:0003425 xref: TAO:0000086 xref: ZFA:0000086 is_a: EFO:0003332 ! zebrafish embryonic structure is_a: UBERON:0000483 ! epithelium relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0002050 ! embryonic structure property_value: axiom_lost_from_external_ontology "relationship loss: develops_from superficial blastomere (TAO:0001484)[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000086", ontology="TAO"} property_value: external_definition "Outermost monolayer of cells surrounding the embryo that become very flattened in the blastula and give rise to the periderm. Sometimes used synonymously with periderm. Kimmel et al, 1995.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000086", ontology="TAO", source="ZFIN:curator"} property_value: taxon_notes "Originally this tissue is one cell layer thick but in most vertebrates it soon becomes a two layered structure. The outer layer gives rise to the periderm." xsd:string [Term] id: UBERON:0007610 name: tibial artery namespace: uberon def: "The anterior and posterior arteries created at the bifurcation of the popliteal artery. The anterior tibial artery begins at the lower border of the popliteus muscle and lies along the tibia at the distal part of the leg to surface superficially anterior to the ankle joint. Its branches are distributed throughout the leg, ankle, and pes. The posterior tibial artery begins at the lower border of the popliteus muscle, lies behind the tibia in the lower part of its course, and is found situated between the medial malleolus and the medial process of the calcaneal tuberosity. Its branches are distributed throughout the leg and foot." [MESH:A07.231.114.895] xref: EMAPA:36530 xref: GAID:514 xref: MA:0002067 xref: MESH:D016909 xref: NCIT:C12824 xref: SCTID:181351007 xref: UMLS:C0085427 {source="ncithesaurus:Tibial_Artery"} is_a: UBERON:0001637 ! artery relationship: part_of UBERON:0000026 ! appendage relationship: part_of UBERON:0002101 ! limb relationship: part_of UBERON:0002103 ! hindlimb relationship: part_of UBERON:0002250 ! popliteal artery [Term] id: UBERON:0007650 name: esophagogastric junction namespace: uberon def: "The junction between the esophagus and the stomach epithelium." [http://www.thefreedictionary.com/esophagogastric+junction] synonym: "cardioesophageal junction" EXACT [FMA:9434] synonym: "esophageal sphincter" RELATED [MESH:A03.365.414] synonym: "esophagogastric junction" RELATED [MESH:A03.365.414] synonym: "gastroesophageal junction" EXACT [FMA:9434] synonym: "GEJ" RELATED [] synonym: "squamocolumnar junction between esophagus and stomach" RELATED [] xref: BTO:0004364 xref: FMA:9434 xref: GAID:292 xref: MESH:D004943 xref: NCIT:C32668 xref: SCTID:362130006 xref: UMLS:C0014871 {source="ncithesaurus:Gastroesophageal_Junction"} is_a: UBERON:0000061 ! anatomical structure property_value: IAO:0000116 "compare with gastroesophageal sphincter" xsd:string [Term] id: UBERON:0007683 name: lateral mesenchyme derived from mesoderm namespace: uberon subset: efo_slim xref: EFO:0003590 xref: EMAPA:16409 xref: TAO:0000905 xref: ZFA:0000905 is_a: UBERON:0005256 ! trunk mesenchyme [Term] id: UBERON:0007688 name: anlage namespace: uberon def: "Anlagen are populations of contiguous cells, typically arranged in one plane, that are morphologically indistinct, but that already correspond in extent to a later organ/tissue." [FBbt:00005426, http://flybase.org/reports/FBrf0178740.html] subset: efo_slim synonym: "developmental field" EXACT [] synonym: "field" BROAD [] synonym: "future organ" RELATED [] synonym: "organ field" RELATED [] xref: AEO:0000170 xref: EFO:0001649 xref: EHDAA2:0003170 xref: FBbt:00005426 xref: Wikipedia:Anlage_(biology) is_a: EFO:0001647 ! tissue modifier is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000468 ! multicellular organism [Term] id: UBERON:0007795 name: ascitic fluid namespace: uberon def: "The serous fluid which accumulates in the peritoneal cavity in ascites." [MESH:A12.207.119] synonym: "ascites" RELATED [BTO:0000091] synonym: "ascites fluid" RELATED [BTO:0000091] xref: BTO:0000091 xref: GAID:1175 xref: MESH:D001202 is_a: UBERON:0006314 ! bodily fluid relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000916 ! abdomen property_value: IAO:0000116 "TODO - move to pathological anatomical entity ontology" xsd:string [Term] id: UBERON:0007808 name: adipose tissue of abdominal region namespace: uberon def: "Adipose tissue that is located in the abdominal region. This includes any subcutaneous fat, visceral fat or encapsulated adipose tissue depots." [CALOHA:paula, http://orcid.org/0000-0002-6601-2165, https://github.com/obophenotype/uberon/issues/259, MGI:csmith] subset: efo_slim synonym: "abdominal adipose tissue" RELATED [BTO:0004041] synonym: "abdominal fat" RELATED [BTO:0004041] synonym: "intra-abdominal fat" RELATED [BTO:0004041] xref: CALOHA:TS-0002 xref: EFO:0003771 is_a: UBERON:0001013 ! adipose tissue intersection_of: UBERON:0001013 ! adipose tissue intersection_of: part_of UBERON:0000916 ! abdomen relationship: part_of UBERON:0000916 ! abdomen relationship: part_of UBERON:0002100 ! trunk property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/cindyJax property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/cmungall property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/paulacalipho [Term] id: UBERON:0008337 name: inguinal part of abdomen namespace: uberon def: "The external junctural region between the lower part of the abdomen and the thigh." [MESH:A01.047.365] subset: efo_slim synonym: "groin" EXACT [FMA:24040] synonym: "groin area" EXACT [] synonym: "groin region" EXACT [] synonym: "iliac fossa viewed surgically" EXACT [FMA:24040] synonym: "iliac region" EXACT [FMA:24040] synonym: "iliac region" RELATED [BTO:0003358] synonym: "inguen" EXACT LATIN [FMA:TA] synonym: "inguen" RELATED [BTO:0003358] synonym: "inguinal region" EXACT [FMA:24040] synonym: "inguinal region" RELATED [BTO:0003358] xref: BTO:0003358 xref: CALOHA:TS-2339 xref: EFO:0001397 xref: FMA:24040 xref: GAID:27 xref: galen:InguinalRegion xref: MESH:D006119 xref: NCIT:C12726 xref: SCTID:243962005 xref: UMLS:C0018246 {source="ncithesaurus:Inguinal_Region"} xref: Wikipedia:Inguinal_region is_a: EFO:0000808 ! animal body part relationship: part_of UBERON:0000468 ! multicellular organism [Term] id: UBERON:0008896 name: post-hyoid pharyngeal arch namespace: uberon def: "A pharyngeal arch that is posterior to the hyoid arch. i.e. any pharyngeal arch with a number 3 or higher." [https://orcid.org/0000-0002-6601-2165] subset: efo_slim synonym: "branchial arch" EXACT [ZFA:0001613] synonym: "branchial arches" EXACT PLURAL [ZFA:0001613] synonym: "branchial bar" EXACT [ZFA:0001613] synonym: "branchial bars" EXACT PLURAL [ZFA:0001613] synonym: "gill arch" EXACT [ZFA:0001613] synonym: "gill arches 1-5" EXACT [ZFA:0001613] synonym: "gill bar" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "pharyngeal arch 3-7" EXACT [ZFA:0001613] synonym: "visceral arches 3-7" EXACT [ZFA:0001613] xref: AAO:0010362 xref: BTO:0002152 xref: EFO:0003694 xref: SCTID:308766004 xref: TAO:0001597 xref: XAO:0000099 xref: ZFA:0001613 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0002539 ! pharyngeal arch property_value: external_definition "Posterior-most stream of cranial neural crest, which sub-divides during migration.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010362", ontology="AAO", source="AAO:EJS"} [Term] id: UBERON:0008897 name: fin namespace: uberon def: "An external projection of an aquatic animal as a fish used in propelling or guiding the body[BTO]." [BTO:0004649, Wikipedia:Fin] subset: efo_slim synonym: "fins" RELATED PLURAL [ZFA:0000108] xref: AAO:0010374 xref: AEO:0001004 xref: BTO:0004649 xref: EFO:0000875 xref: MAT:0000087 xref: MESH:D058500 xref: MIAA:0000087 xref: SCTID:73003005 xref: TAO:0000108 xref: VSAO:0000099 xref: Wikipedia:Fin xref: XAO:0000002 xref: ZFA:0000108 is_a: UBERON:0000026 ! appendage relationship: never_in_taxon NCBITaxon:314146 relationship: never_in_taxon NCBITaxon:8782 property_value: external_definition "Surface structure involved in locomotion.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000108", ontology="TAO", source="TAO:wd"} property_value: external_definition "Surface structure involved in locomotion.[VSAO]" xsd:string {date_retrieved="2012-08-14", external_class="VSAO:0000099", ontology="VSAO", source="TAO:curator"} property_value: taxon_notes "This class groups together various structures that may have arisen through convergent evolution, including, for example, the dorsal fin of a cetacean" xsd:string [Term] id: UBERON:0008904 name: neuromast namespace: uberon def: "Volcano-shaped lateral line sensory organ located in characteristic positions within the skin epithelium and containing hair cells and their support elements." [ZFIN:ZDB-PUB-961014-576] subset: efo_slim synonym: "lateral line neuromast" EXACT [ZFA:0000243] synonym: "lateral line organ" BROAD [ZFA:0000243] synonym: "neuromast organ" EXACT [PHENOSCAPE:wd] synonym: "neuromasts" EXACT PLURAL [ZFA:0000243] xref: AAO:0001004 xref: EFO:0003513 xref: TAO:0000243 xref: ZFA:0000243 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001032 ! sensory system relationship: part_of UBERON:0002540 ! lateral line system property_value: axiom_lost_from_external_ontology "relationship loss: part_of lateral line receptor organ (AAO:0001001)[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0001004", ontology="AAO"} property_value: axiom_lost_from_external_ontology "relationship loss: subclass lateral line receptor (AAO:0010705)[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0001004", ontology="AAO"} property_value: external_definition "Type of mechanoreceptive organ of the lateral line which are arranged in lines on the body surface. These organs are constituted by hair cells and supporting cells and it is located in the epidermis with its hair cells exposed to the surface. Absent in some caecilians. These receptors receive afferent and efferent innervations.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0001004", ontology="AAO", source="AAO:EJS"} property_value: external_definition "Volcano-shaped lateral line sensory organ located in characteristic positions within the skin epithelium and containing hair cells and their support elements. Kimmel et al, 1995. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.)[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000243", ontology="TAO", source="ZFIN:curator"} [Term] id: UBERON:0008930 name: somatosensory cortex namespace: uberon def: "Area of the parietal lobe concerned with receiving general sensations. It lies posterior to the central sulcus." [MESH:A08.186.211.730.885.213.670.675] subset: efo_slim subset: pheno_slim synonym: "primary somatic sensory cortex" RELATED [FMA:242642] synonym: "somatic sensory cortex" EXACT [FMA:242642] synonym: "somatic sensory cortex" RELATED [BTO:0004353] synonym: "somatosensory area" RELATED [BTO:0004353] synonym: "somatosensory areas" RELATED [BAMS:SS] synonym: "somesthetic area" RELATED [BTO:0004353] xref: BAMS:SS xref: BTO:0004353 xref: EFO:0001391 xref: FMA:242642 xref: GAID:681 xref: MBA:453 xref: MESH:D013003 xref: neuronames:3241 xref: SCTID:279252006 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0002581 ! postcentral gyrus property_value: IAO:0000116 "TODO - add layers" xsd:string property_value: IAO:0000116 "TODO - add relationship to system (not part of, as sensory systems are peripheral)" xsd:string [Term] id: UBERON:0008952 name: upper lobe of left lung namespace: uberon def: "The lobe of the left lung that is closest to the head." [https://orcid.org/0000-0002-6601-2165] synonym: "left lung cranial lobe" EXACT [EHDAA2:0000953] synonym: "left upper lobe" EXACT [FMA:7370] synonym: "left upper lobe of lung" EXACT [FMA:7370] synonym: "lobus superior (pulmo sinister)" EXACT LATIN [FMA:7370, FMA:TA] synonym: "lobus superior pulmonis sinistri" EXACT LATIN [FMA:TA] synonym: "superior lobe of left lung" EXACT [FMA:7370] xref: EHDAA2:0000953 xref: EHDAA:4957 xref: FMA:7370 xref: galen:UpperLobeOfLeftLung xref: NCIT:C33021 xref: SCTID:361984006 xref: UMLS:C1261076 {source="ncithesaurus:Upper_Lobe_of_the_Left_Lung"} is_a: EFO:0001986 ! lung structure relationship: never_in_taxon NCBITaxon:10088 {source="ISBN:0123813611"} ! Mus relationship: part_of UBERON:0002048 ! lung [Term] id: UBERON:0008953 name: lower lobe of left lung namespace: uberon def: "A lower lobe of lung that is part of a left lung." [OBOL:automatic] synonym: "inferior lobe of left lung" EXACT [FMA:7371] synonym: "left lower lobe" EXACT [FMA:7371] synonym: "left lower lobe of lung" EXACT [FMA:7371] synonym: "left lung caudal lobe" EXACT [EHDAA2:0000945] synonym: "lobus inferior (pulmo sinister)" EXACT [FMA:7371] synonym: "lobus inferior pulmonis sinistri" EXACT LATIN [FMA:TA] xref: EHDAA2:0000945 xref: EHDAA:4949 xref: FMA:7371 xref: galen:LowerLobeOfLeftLung xref: NCIT:C33020 xref: SCTID:361989001 xref: UMLS:C1261077 {source="ncithesaurus:Lower_Lobe_of_the_Left_Lung"} is_a: EFO:0001986 ! lung structure relationship: never_in_taxon NCBITaxon:10088 {source="ISBN:0123813611"} ! Mus relationship: part_of UBERON:0002048 ! lung [Term] id: UBERON:0008998 name: vasculature of brain namespace: uberon alt_id: UBERON:0005284 def: "System pertaining to blood vessels in the brain." [BTO:0003840] subset: efo_slim synonym: "brain vasculature" EXACT [] synonym: "cerebrovascular system" EXACT [BTO:0003840] synonym: "intracerebral vasculature" EXACT [FMA:61935] xref: BTO:0003840 xref: EFO:0003491 xref: EMAPA:35186 xref: FMA:242007 xref: FMA:61935 xref: SCTID:362029003 xref: TAO:0000099 xref: ZFA:0000099 is_a: UBERON:0000061 ! anatomical structure is_a: UBERON:0002049 ! vasculature relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001017 ! central nervous system [Term] id: UBERON:0009091 name: vasa recta ascending limb namespace: uberon subset: human_reference_atlas xref: KUPO:0001005 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0004726 ! vasa recta property_value: RO:0002175 NCBITaxon:9606 property_value: UBPROP:0000012 "This class was created in order to align KUPO with CL. The original class was undefined, and the intended meaning is not clear, may be obsoleted in future. The vasa recta is parallel to the loop of Henles, this may refer to the portion of the vasa recta parallel to the ascending limb" xsd:string {external_ontology="CL"} [Term] id: UBERON:0009114 name: cervical thymus namespace: uberon def: "A mature thymus that is entirely part of the cervical region." [https://orcid.org/0000-0002-6601-2165] subset: organ_slim is_a: UBERON:0002370 ! thymus intersection_of: UBERON:0002370 ! thymus intersection_of: part_of UBERON:0000974 ! neck relationship: part_of UBERON:0000974 ! neck property_value: RO:0002175 NCBITaxon:39107 property_value: RO:0002175 NCBITaxon:9263 property_value: taxon_notes "A cervical thymus is a pathological structure in a human - it can form during the migration of the thymus to its location in the mediastinum. Some mice have a cervical thymus. There are examples of cervical thymi in marsupials and prosimians[ISBN:0781714125]" xsd:string [Term] id: UBERON:0009115 name: thoracic thymus namespace: uberon def: "A mature thymus that is entirely part of thoracic region." [https://orcid.org/0000-0002-6601-2165] subset: organ_slim is_a: UBERON:0002370 ! thymus intersection_of: UBERON:0002370 ! thymus intersection_of: part_of UBERON:0000915 ! thoracic segment of trunk relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0000915 ! thoracic segment of trunk relationship: part_of UBERON:0002100 ! trunk [Term] id: UBERON:0009120 name: gill filament namespace: uberon def: "Portion of tissue that projects outward from the gill and is a thread-like, soft, red respiratory and excretory structure." [http://www.briancoad.com/Dictionary/G.htm, ZFIN:ZDB-PUB-961014-576] subset: efo_slim synonym: "gill filaments" EXACT PLURAL [ZFA:0000667] xref: BTO:0002150 xref: EFO:0003554 xref: TAO:0000667 xref: ZFA:0000667 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000468 ! multicellular organism property_value: external_definition "Branched region of the gill where respiratory exchange takes place. Kimmel et al, 1995.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000667", ontology="TAO", source="ZFIN:curator"} [Term] id: UBERON:0009122 name: adenohypophyseal placode namespace: uberon def: "The adenohypophyseal placode forms the anterior lobe of the pituitary gland and gives rise to the endocrine secretory cells of the pituitary." [http://www.ncbi.nlm.nih.gov/books/NBK53175/] subset: efo_slim synonym: "pituitary placode" RELATED [ZFA:0001198] xref: EFO:0000229 xref: TAO:0001198 xref: XAO:0004208 xref: ZFA:0001198 is_a: UBERON:0001048 ! primordium is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000033 ! head relationship: part_of UBERON:0000924 ! ectoderm property_value: IAO:0000116 "consider adding more detailed spatial placement - e.g. oral ectoderm and/or rostal ectoderm" xsd:string property_value: UBPROP:0000011 "Fate-mapping studies in amphibian, chick and mouse embryos (Eagleson et al., 1986; 1995; Couly and Le Douarin, 1985; Cobos et al., 2001; Osumi-Yamachita et al., 1994; Kawamura et al., 2002) have shown that the cells contributing to the adenohypophysis develop at the midline of the anterior neural ridge, which delineates the rostral boundary of the neural plate, a region devoid of neural crest. The anterior neural ridge also gives rise to the olfactory placodes and some forebrain tissues including the olfactory bulbs (reviewed in Papalopulu, 1995). Ablation of this region in chick embryos at the 2-4 somite stage confirmed these lineage analyses as it prevented formation of Rathke's pouch and any further pituitary development (elAmraoui and Dubois, 1993). Upon head folding, the oral ectoderm cells of the adenohypophyseal placode invaginate towards the prospective ventral diencephalon to form Rathke's pouch, the anlage of the adenohypophysis. Rathke's pouch starts as an invagination of the oral ectoderm in response to inductive signals from the prospective diencephalon. The region of the diencephalon above the pouch is known as the infundibulum and forms the posterior lobe of the pituitary or neurohypohysis (Figure 3). While in most basal fish and tetrapods the adenohypophyseal anlagen invaginates to form Rathke's pouch, in teleost fish the adenohypophyseal placode does not invaginate but rather maintains its initial organization forming a solid structure in the head (reviewed in Pogoda and Hammerschmidt; 2009)" xsd:string [Term] id: UBERON:0009202 name: vasa recta descending limb namespace: uberon subset: human_reference_atlas xref: KUPO:0001002 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0004726 ! vasa recta property_value: RO:0002175 NCBITaxon:9606 property_value: UBPROP:0000012 "This class was created in order to align KUPO with CL. The original class was undefined, and the intended meaning is not clear, may be obsoleted in future. The vasa recta is parallel to the loop of Henles, this may refer to the portion of the vasa recta parallel to the descending limb" xsd:string {external_ontology="CL"} [Term] id: UBERON:0009472 name: axilla namespace: uberon def: "The axilla is the area directly under the joint where the forelimb connects to the shoulder." [Wikipedia:Axilla] subset: efo_slim subset: pheno_slim synonym: "arm pit" EXACT [Wikipedia:Axilla] synonym: "armpit" EXACT [Wikipedia:Axilla] synonym: "armpits" RELATED [Wikipedia:Axilla] synonym: "axilla" RELATED LATIN [Wikipedia:Axilla] synonym: "axillae" RELATED [Wikipedia:Axilla] synonym: "axillary region" EXACT [FMA:24864] synonym: "axillary region" RELATED [Wikipedia:Axilla] synonym: "oxter" RELATED [Wikipedia:Axilla] synonym: "regio axillaris" EXACT LATIN [FMA:TA] synonym: "underarm" RELATED [Wikipedia:Axilla] xref: CALOHA:TS-2208 xref: EFO:0001395 xref: FMA:24864 xref: galen:Axilla xref: MESH:D001365 xref: NCIT:C12674 xref: SCTID:362732006 xref: UMLS:C0004454 {source="ncithesaurus:Axilla"} xref: Wikipedia:Axilla is_a: UBERON:0000061 ! anatomical structure property_value: depicted:by http://upload.wikimedia.org/wikipedia/commons/f/f2/Gray411.png xsd:anyURI property_value: has_relational_adjective "axillary" xsd:string [Term] id: UBERON:0009582 name: spinal cord lateral wall namespace: uberon subset: efo_slim synonym: "lateral wall spinal cord" EXACT [ZFA:0000996] xref: EFO:0003602 xref: EMAPA:17579 xref: MA:0003192 xref: TAO:0000996 xref: ZFA:0000996 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0002240 ! spinal cord [Term] id: UBERON:0009616 name: presumptive midbrain namespace: uberon def: "A presumptive structure that has the potential to develop into a midbrain." [OBOL:automatic] subset: efo_slim synonym: "early midbrain" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "future midbrain" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "mesencephalon" RELATED [EHDAA2:0000615] synonym: "presumptive mesencephalon" EXACT [ZFA:0000148] xref: BAMS:MES xref: EFO:0003432 xref: EHDAA2:0000615 xref: EMAPA:16140 xref: TAO:0000148 xref: Wikipedia:Mesencephalon xref: ZFA:0000148 is_a: EFO:0003332 ! zebrafish embryonic structure is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0006238 ! future brain property_value: IAO:0000116 "TODO - unify naming conventions" xsd:string [Term] id: UBERON:0009676 name: early telencephalic vesicle namespace: uberon subset: efo_slim synonym: "early telencephalic ventricle" RELATED [] synonym: "early telencephalic vesicle" EXACT [EHDAA2:0001981] xref: EFO:0003562 xref: EHDAA2:0001981 xref: EHDAA:1993 xref: EHDAA:2671 xref: EMAPA:16914 is_a: UBERON:0001062 ! anatomical entity relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0001893 ! telencephalon relationship: part_of UBERON:0005281 ! ventricular system of central nervous system relationship: part_of UBERON:0006238 ! future brain [Term] id: UBERON:0009853 name: body of uterus namespace: uberon def: "The part of the uterus above the isthmus and below the orifices of the uterine tubes." [http://medical-dictionary.thefreedictionary.com/corpus+uteri] subset: efo_slim subset: human_reference_atlas synonym: "corpus uteri" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "uterine body" EXACT [FMA:17739] synonym: "uterine corpus" EXACT [FMA:17739] xref: CALOHA:TS-1265 xref: EFO:0000382 xref: FMA:17739 xref: NCIT:C12316 xref: SCTID:279878007 xref: UMLS:C0227813 {source="ncithesaurus:Corpus_Uteri"} is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000990 ! reproductive system relationship: part_of UBERON:0000995 ! uterus property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0009881 name: anterior lateral plate mesoderm namespace: uberon subset: efo_slim synonym: "ALPM" EXACT [ZFA:0005041] xref: EFO:0003704 xref: TAO:0005041 xref: ZFA:0005041 is_a: EFO:0003331 ! zebrafish component disjoint_from: UBERON:0009910 ! posterior lateral plate mesoderm relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0002050 ! embryonic structure [Term] id: UBERON:0009910 name: posterior lateral plate mesoderm namespace: uberon subset: efo_slim synonym: "PLPM" EXACT [ZFA:0005042] xref: EFO:0003705 xref: TAO:0005042 xref: ZFA:0005042 is_a: UBERON:0000926 ! mesoderm [Term] id: UBERON:0009955 name: neurogenic placode namespace: uberon def: "Cranial ectodermal placode with potential to develop into a component of the nervous system, such as nerves or ganglia." [http://orcid.org/0000-0002-6601-2165, PMID:11523831] subset: efo_slim synonym: "neurogenic placodes" EXACT PLURAL [ZFA:0001309] synonym: "placodae neurogenicae" RELATED LATIN [Wikipedia:Neurogenic_placodes] xref: EFO:0003460 xref: TAO:0001309 xref: Wikipedia:Neurogenic_placodes xref: XAO:0004620 xref: ZFA:0001309 is_a: EFO:0003332 ! zebrafish embryonic structure is_a: UBERON:0001048 ! primordium is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000033 ! head relationship: part_of UBERON:0000924 ! ectoderm property_value: IAO:0000232 "Includes: trigeminal, otic, lateral line and epibranchial placodes." xsd:string property_value: taxon_notes "While some sensory placodes (otic and olfactory) may have homologues in basal chordates (Wada et al., 1998), the so-called neurogenenic placodes (trigeminal, otic, lateral line and epibranchial placodes) appear to have emerged at a later time (Shimeld and Holland, 2000)" xsd:string {source="NCBIBook:NBK53171"} [Term] id: UBERON:0009970 name: epithelium of pancreatic duct namespace: uberon def: "An epithelium that is part of a pancreatic duct." [OBOL:automatic] subset: efo_slim synonym: "pancreatic duct epithelium" EXACT [FMA:67681] synonym: "pancreatic ductal epithelium" EXACT [FMA:67681] xref: EFO:0002556 xref: FMA:67681 is_a: EFO:0003861 ! pancreactic component is_a: UBERON:0000483 ! epithelium intersection_of: UBERON:0000483 ! epithelium intersection_of: part_of UBERON:0007329 ! pancreatic duct relationship: part_of UBERON:0007329 ! pancreatic duct property_value: IAO:0000116 "in EHDAA2, the embryonic pancreatic ducts (dorsal, ventral) are classified as eithelial sacs, which would render them subclasses of this" xsd:string [Term] id: UBERON:0010147 name: male accessory sex gland namespace: uberon def: "Any gland, other than the gonad, associated with the genital tract, such as the ampulla of the ductus deferens and the bulbourethral, prostate and vesicular glands of the male." [BTO:0004798] subset: pheno_slim synonym: "male accessory gland" RELATED [BTO:0004798] synonym: "male accessory reproductive gland" RELATED [] xref: BTO:0004798 is_a: UBERON:0002530 ! gland relationship: part_of UBERON:0000079 ! male reproductive system relationship: part_of UBERON:0000990 ! reproductive system [Term] id: UBERON:0010230 name: eyeball of camera-type eye namespace: uberon def: "The core globe-shaped component of the camera-type eye." [UBERON:cjm] subset: pheno_slim synonym: "bulbus oculi" EXACT [] synonym: "eye" RELATED INCONSISTENT [] synonym: "eye globe" EXACT [VHOG:0001616] synonym: "eyeball" EXACT [FMA:12513] synonym: "globe" RELATED [HP:0100886, MIAA:0000283] xref: FMA:12513 xref: MIAA:0000283 xref: SCTID:244486005 xref: VHOG:0001616 xref: Wikipedia:Globe_(human_eye) is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001032 ! sensory system relationship: UBPROP:0000202 FMA:264089 ! fma_set_term property_value: IAO:0000232 "See notes for camera-type eye" xsd:string [Term] id: UBERON:0010285 name: midbrain basal plate namespace: uberon def: "Portion of tissue that is dorsolateral to the floor plate and part of the midbrain." [ZFA:0000761] subset: efo_slim synonym: "basal plate midbrain" EXACT [TAO:0000761] synonym: "basal plate midbrain region" EXACT [ZFA:0000761] xref: DHBA:12322 xref: EFO:0003567 xref: EHDAA2:0004375 xref: TAO:0000761 xref: ZFA:0000761 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0001017 ! central nervous system [Term] id: UBERON:0010302 name: amnioserosa namespace: uberon def: "A single extraembryonic epithelium, which closes the germband dorsally." [DOI:10.1073/pnas.0709145105] subset: efo_slim synonym: "amnion-serosa" RELATED [BTO:0004800] xref: BTO:0004800 xref: EFO:0000250 xref: FBbt:00000095 is_a: UBERON:0000483 ! epithelium is_a: UBERON:0005292 ! extraembryonic tissue property_value: IAO:0000116 "May be obsoleted once added to insect ontology. Coordinate with cell type in CL" xsd:string [Term] id: UBERON:0010710 name: pectoral fin skeleton namespace: uberon def: "Paired fin skeleton that consists of the supporting endochondral proximal and distal radials and the dermal fins rays or lepidotrichia. The pectoral fin skeleton is located in the thoracic region of the body and articulates with the scapula and coracoid." [TAO:wd] subset: efo_slim synonym: "forefin skeleton" EXACT [TAO:0000943] xref: EFO:0003594 xref: TAO:0000943 xref: VSAO:0000153 xref: ZFA:0000943 is_a: EFO:0003331 ! zebrafish component is_a: EFO:0003858 ! skeleton structure relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0002091 ! appendicular skeleton relationship: part_of UBERON:0004288 ! skeleton relationship: part_of UBERON:0008897 ! fin [Term] id: UBERON:0010743 name: meningeal cluster namespace: uberon def: "The collection of all meningeal layers that line a central nervous system." [https://orcid.org/0000-0002-6601-2165] subset: pheno_slim synonym: "cerebral meninges" EXACT [] synonym: "cluster of meninges" EXACT [FMA:231572] synonym: "meninges" EXACT [FMA:231572] xref: EHDAA2:0004661 xref: EMAPA:32660 xref: FMA:231572 xref: NCIT:C12349 xref: neuronames:1465 xref: SCTID:362879001 xref: UMLS:C0228116 xref: Wikipedia:Meninges is_a: UBERON:0001062 ! anatomical entity relationship: part_of UBERON:0001017 ! central nervous system property_value: has_relational_adjective "meningeal" xsd:string property_value: taxon_notes "In some primitive organisms, the meningeal cluster includes only the primitive meninx" xsd:string [Term] id: UBERON:0010996 name: articular cartilage of joint namespace: uberon def: "A thin layer of cartilage, usually hyaline, on the articular surface of bones in synovial joints." [BTO:0001572] subset: efo_slim subset: human_reference_atlas subset: pheno_slim subset: uberon_slim subset: vertebrate_core synonym: "articular cartilage" EXACT [MA:0000487] synonym: "cartilago articularis" EXACT [FMA:12264] synonym: "hyaline cartilage" RELATED [BTO:0001572] synonym: "joint-associated cartilage" RELATED [AEO:0000179] xref: AEO:0000179 xref: BTO:0001572 xref: CALOHA:TS-0055 xref: EFO:0001902 xref: EMAPA:35149 xref: FMA:12264 xref: GAID:101 xref: galen:ArticularCartilage xref: MA:0000487 xref: MESH:D002358 xref: NCIT:C32144 xref: SCTID:305026006 xref: UMLS:C0007303 {source="ncithesaurus:Articular_Cartilage"} is_a: UBERON:0002384 ! connective tissue relationship: part_of UBERON:0002204 ! musculoskeletal system property_value: gwas:trait "true" xsd:boolean property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0011004 name: pharyngeal arch cartilage namespace: uberon def: "A cartilage element that is part of a splanchnocranium." [OBOL:automatic] subset: efo_slim synonym: "pharyngeal arch cartilages" EXACT PLURAL [ZFA:0001460] synonym: "splanchnocranium cartilage" EXACT [ZFA:0001460] xref: EFO:0003689 xref: TAO:0001460 xref: ZFA:0001460 is_a: EFO:0003858 ! skeleton structure relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001434 ! skeletal system [Term] id: UBERON:0011085 name: palatoquadrate arch namespace: uberon def: "The dorsal portion of the first pharyngeal arch, comprising the upper jaw[ZFIN,VHOG]." [https://github.com/obophenotype/uberon/issues/153, VHOG:0000511] subset: efo_slim synonym: "dorsal mandibular arch" RELATED [VHOG:0000511] synonym: "dorsal pharyngeal arch 1" RELATED [VHOG:0000511] synonym: "dorsal visceral arch 1" EXACT [ZFA:0001272] synonym: "dorsal visceral arch 1" RELATED [VHOG:0000511] synonym: "palatoquadrate arch" RELATED [VHOG:0000511] synonym: "upper jaw" RELATED [VHOG:0000511] synonym: "upper pharyngeal jaw" EXACT [ZFA:0001272] synonym: "upper pharyngeal jaw" RELATED [VHOG:0000511] xref: EFO:0003659 xref: TAO:0001272 xref: VHOG:0000511 xref: ZFA:0001272 is_a: EFO:0003331 ! zebrafish component is_a: EFO:0003858 ! skeleton structure relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0004288 ! skeleton property_value: homology_notes "Subsequent vertebrate evolution has also involved major alterations to the pharynx; perhaps the most notable occurred with the evolution of the gnathostomes. This involved substantial modifications to the most anterior pharyngeal segments, with the jaw forming from the first, anterior, pharyngeal segment, while the second formed its supporting apparatus, the hyoid.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000511", ontology="VHOG", source="DOI:10.1046/j.1469-7580.2001.19910133.x Graham A. The development and evolution of the pharyngeal arches. J Anat (2001)", source="http://bgee.unil.ch/"} property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/cmungall property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/mellybelly [Term] id: UBERON:0011143 name: upper urinary tract namespace: uberon def: "Subdivision of urinary system which consists of the kidney and the ureters." [FMA:45658] subset: pheno_slim xref: FMA:45658 xref: galen:UpperUrinaryTract xref: NCIT:C61107 xref: SCTID:181413006 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001008 ! renal system [Term] id: UBERON:0011146 name: silk gland namespace: uberon def: "Any of the glands in silk-spinning insects and spiders that secrete a protein liquid that hardens into silk on exposure to air." [BTO:0001250] xref: BTO:0001250 is_a: UBERON:0002530 ! gland [Term] id: UBERON:0011150 name: pharyngeal arch derived gill namespace: uberon def: "A gill that develops_from a pharyngeal gill precursor." [OBOL:automatic] subset: efo_slim subset: uberon_slim synonym: "branchia" RELATED [BTO:0000518] synonym: "gills" RELATED PLURAL [VHOG:0001214] xref: BTO:0000518 xref: EFO:0000933 xref: GAID:1218 xref: MAT:0000134 xref: MIAA:0000134 xref: NCIT:C92593 xref: TAO:0000354 xref: UMLS:C0017558 {source="ncithesaurus:Gill"} xref: VHOG:0001214 xref: XAO:0000120 xref: ZFA:0000354 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001004 ! respiratory system property_value: external_definition "Anatomical structure consisting of a series of membranes which allow dissolved oxygen from the water to pass into the bloodstream and carbon dioxide to pass out of the bloodstream.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010171", ontology="AAO", source="AAO:BJB"} property_value: external_definition "The respiratory organ of most aquatic animals that breathe water to obtain oxygen, consisting of a filamentous structure of vascular membranes across which dissolved gases are exchanged. [Free_Online_Dictionary]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001214", ontology="VHOG", source="http://bgee.unil.ch/", source="http://www.thefreedictionary.com/gill"} property_value: homology_notes "Gill slits in the pharyngeal region of the intestine, which are also present in (at least) tunicates and acranians, are taken over to the craniote ancestor.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0001214", ontology="VHOG", source="ISBN:978-0198566694 Schmidt-Rhaesa A, The evolution of organ systems (2007) p.209", source="http://bgee.unil.ch/"} [Term] id: UBERON:0011153 name: ventral hyoid arch skeleton namespace: uberon subset: efo_slim synonym: "ventral hyoid arch" EXACT [ZFA:0001402] synonym: "ventral pharyngeal arch 2 skeleton" EXACT [] synonym: "ventral visceral arch 2" EXACT [ZFA:0001402] xref: AAO:0010372 xref: EFO:0003684 xref: TAO:0001402 xref: XAO:0003179 xref: ZFA:0001402 is_a: EFO:0003331 ! zebrafish component is_a: EFO:0003858 ! skeleton structure relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0004288 ! skeleton [Term] id: UBERON:0011189 name: lamina propria of large intestine namespace: uberon def: "A lamina propria that is part of a large intestine." [OBOL:automatic] subset: human_reference_atlas synonym: "lamina propria of mucosa of large intestine" EXACT [FMA:15654] synonym: "large intestinal lamina propria" EXACT [] synonym: "large intestine lamina propria" EXACT [FMA:15654] xref: FMA:15654 xref: NCIT:C49298 xref: UMLS:C1708644 {source="ncithesaurus:Large_Intestinal_Lamina_Propria"} is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000059 ! large intestine relationship: part_of UBERON:0000344 ! mucosa relationship: part_of UBERON:0005409 ! alimentary part of gastrointestinal system property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0011242 name: ethmoid cartilage namespace: uberon def: "Region between capsules formed by anterior tips of neurocranial trabeculae." [ISBN:0073040584] subset: efo_slim synonym: "ethmoid cartilages" EXACT PLURAL [TAO:0001405] synonym: "ethmoid plate" RELATED [TAO:0001405] xref: AAO:0010134 xref: EFO:0003685 xref: TAO:0001405 xref: ZFA:0001405 is_a: UBERON:0003932 ! cartilage element of chondrocranium property_value: external_definition "Anterior wall of the braincase.[AAO]" xsd:string {date_retrieved="2012-06-20", external_class="AAO:0010134", ontology="AAO", source="AAO:EJS"} property_value: external_definition "Chondrocranium cartilage that is initially plate-like and formed from the anterior fusion of the trabecula crani. The ethmoid cartilage is paired.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0001405", ontology="TAO", source="ZFIN:curator"} property_value: UBPROP:0000012 "We assume the AAO structure is cartilage" xsd:string {external_ontology="AAO"} [Term] id: UBERON:0011579 name: venom gland namespace: uberon def: "A gland that secretes venom." [https://orcid.org/0000-0002-6601-2165] subset: functional_classification xref: SCTID:362181001 is_a: UBERON:0002530 ! gland property_value: IAO:0000232 "we include a separate class for snake venom glands" xsd:string [Term] id: UBERON:0011607 name: hyomandibular cartilage namespace: uberon def: "Cartilage form of the hyomandibular element." [https://orcid.org/0000-0002-6601-2165] subset: efo_slim synonym: "hyosymplectic cartilage" EXACT [ZFA:0001422] synonym: "symplectic cartilage" EXACT [TAO:0001422] xref: EFO:0003686 xref: TAO:0001422 xref: VHOG:0000688 xref: ZFA:0001422 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0011004 ! pharyngeal arch cartilage relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001434 ! skeletal system property_value: external_definition "Pharyngeal arch cartilage that is bilaterally paired and articulates with the chondrocranium dorsally, the opercle bone posteriorly, and the palatoquadrate cartilage anteriorly.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0001422", ontology="TAO", source="ZFIN:curator"} property_value: homology_notes "This structure (the hyomandibular), on ontogenic grounds alone, can be considered homologous with the amphibian and reptilian columella and the mammalian stapes.[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000688", ontology="VHOG", source="DOI:10.1017/S0022215100009087 Gerrie J, The phylogeny of the mammalian tympanic cavity and auditory ossicles. The Journal of Laryngology and Otology (1948)", source="http://bgee.unil.ch/"} property_value: taxon_notes "The stapes is homologous to the hyomandibula. In this ontology, we use the class 'hyomandibular cartilage' generally to include the future stapes, the future hyomandibular bone of teleosts and the unossified cartilage in sharks." xsd:string [Term] id: UBERON:0011634 name: ectopterygoid bone namespace: uberon def: "A palatal bone which -- like many palatal bones -- may originally have developed as a dermal bone replacing part of the palatoquadrate, the primitive upper jaw. Like the palatine (also called dermopalatine), the ectopterygoid replaces the middle part of the autopalatine. It may be serially homologous with the palatine(s), but is somewhat specialized, being the last (most posterior in palatal view) of the series and bordering the fossa for the jaw muscles. In a typical tetrapod it abuts the palatine anteriorly, the maxilla laterally, the pterygoid or the fossa mandubuaris medially, and the fossa posteriorly." [http://palaeos.com/vertebrates/glossary/glossaryE.html] subset: efo_slim synonym: "ectopterygoid" EXACT [TAO:0000656] synonym: "ectopterygoids" RELATED PLURAL [ZFA:0000656] xref: EFO:0003552 xref: TAO:0000656 xref: ZFA:0000656 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001474 ! bone element relationship: part_of UBERON:0000033 ! head relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001007 ! digestive system relationship: part_of UBERON:0001434 ! skeletal system property_value: external_definition "Dermal bone that forms the lateral border of the palate and articulates with the quadrate posteriorly, the entopterygoid medially and the dermopalatine and/or autopalatine antero-laterally. The ectopterygoid is a paired bone.[TAO]" xsd:string {date_retrieved="2012-08-14", external_class="TAO:0000656", ontology="TAO", source="TAO:ga_tg", source="ZFIN:curator"} property_value: UBPROP:0000005 "The ectopterygoid is often toothed.[TAO]" xsd:string {date_retrieved="2012-09-06", external_class="TAO:0000656", ontology="TAO", source="Curator"} property_value: UBPROP:0000012 "taken from TAO but is present in tetrapods" xsd:string {external_ontology="TAO"} [Term] id: UBERON:0011648 name: jaw muscle namespace: uberon subset: efo_slim subset: pheno_slim synonym: "mandibular muscle" EXACT [TAO:0000236] synonym: "mandibular muscles" EXACT PLURAL [TAO:0000236] xref: AAO:0000247 xref: EFO:0003511 xref: TAO:0000236 xref: XAO:0003269 xref: ZFA:0000236 is_a: UBERON:0002376 ! cranial muscle [Term] id: UBERON:0011683 name: adductor mandibulae namespace: uberon def: "An adductor muscle that acts on the jaw. In some species, this is subdivided into segments based on attachment." [http://orcid.org/0000-0002-6601-2165, https://github.com/obophenotype/uberon/issues/266] subset: efo_slim synonym: "adductor mandibulae complex" RELATED INCONSISTENT [EFO:0000227] synonym: "dorsal adductor mandibulae" EXACT [ZFA:0007049] synonym: "levator mandibulae" RELATED [] synonym: "m. adductor mandibulae" EXACT [] xref: EFO:0000227 xref: TAO:0007049 xref: ZFA:0007049 is_a: EFO:0000795 ! animal developmental tissue is_a: UBERON:0011648 ! jaw muscle relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001015 ! musculature property_value: external_definition "Is a mandibular muscle that forms along the palatoquadrates and inserts on Meckel's cartilages and functions in jaw closing[ZFA:0007049]." xsd:string {source="ZFA:0007049"} property_value: homology_notes "The division of the adductor mandibulae in the various lines of tetrapod evolution correlates with divergences in their methods of feeding. (...) As the jaws become stronger and their movements more complex in the line of evolution toward mammals, the adductor complex becomes divided into several distinct muscles (temporalis, masseter, pterygoideus, tensor tympani, tensor veli palati).[well established][VHOG]" xsd:string {date_retrieved="2012-09-17", external_class="VHOG:0000698", ontology="VHOG", source="ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.333-334 and same reference Table 10-4", source="http://bgee.unil.ch/"} property_value: taxon_notes "In teleosts, the complex is composed of several derived muscles that attach to different parts of the highly kinetic skull." xsd:string {source="ISBN:0073040584", taxon="NCBITaxon:32443"} [Term] id: UBERON:0011905 name: plantaris namespace: uberon def: "Plantaris is a vestigial structure and one of the superficial muscles of the posterior crural compartment of the leg. It is innervated by the tibial nerve (S1, S2) . It is composed of a thin muscle belly and a long thin tendon. It is approximately 2-4 inches long, and is absent in 7 - 10% of the human population. It is one of the plantar flexors in the superior compartment of the leg along with the gastrocnemius, and soleus. The plantaris is considered an unimportant muscle, it mainly acts with gastrocnemius[WP]." [Wikipedia:Plantaris_muscle] subset: efo_slim synonym: "musculus plantaris" EXACT LATIN [] synonym: "plantaris" EXACT [FMA:22543] xref: EFO:0001979 xref: EMAPA:36254 xref: FMA:22543 xref: Wikipedia:Plantaris_muscle is_a: UBERON:0003663 ! hindlimb muscle relationship: part_of UBERON:0000978 ! leg property_value: IAO:0000116 "todo - coordinate with phenoscape-ext on representation of amphibian plantaris longus and profundus" xsd:string [Term] id: UBERON:0012168 name: umbilical cord blood namespace: uberon def: "Blood that remains in the placenta and in the attached umbilical cord after childbirth[WP]." [Wikipedia:Cord_blood] comment: Cord blood is collected because it contains stem cells, which can be used to treat hematopoietic and genetic disorders.[WP] subset: efo_slim synonym: "cord blood" RELATED [BTO:0004053] synonym: "fetal blood" RELATED [MESH:A12.207.152.200] synonym: "umbilical cord blood" RELATED [MESH:A12.207.152.200] xref: BTO:0004053 xref: CALOHA:TS-1079 xref: EFO:0001942 xref: MESH:D005312 xref: Wikipedia:Cord_blood is_a: UBERON:0000178 ! blood relationship: part_of UBERON:0000323 ! late embryo [Term] id: UBERON:0012170 name: core of nucleus accumbens namespace: uberon subset: efo_slim synonym: "accumbens nucleus core" RELATED [BAMS:AcbC] synonym: "accumbens nucleus, core" RELATED [BAMS:AcbC] synonym: "core of nucleus accumbens" EXACT [NLXANAT:20090306] synonym: "core region of nucleus accumbens" EXACT [FMA:77383] synonym: "nucleus accumbens core" EXACT [NLXANAT:20090306] synonym: "nucleusa ccumbens core" RELATED [BAMS:ACBc] xref: BAMS:ACBc xref: BAMS:AcbC xref: DHBA:10340 xref: EFO:0002458 xref: FMA:77383 xref: neuronames:1840 xref: NLXANAT:20090306 xref: PBA:10093 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0001882 ! nucleus accumbens [Term] id: UBERON:0012171 name: shell of nucleus accumbens namespace: uberon def: "Crescent shaped outer zone of the nucleus accumbens, defined by a combination of chemoarchitecture and afferent and efferent connections. The shell is distinguished from the more centrally located core through the notable reduction in staining for the calcium-binding protein calbindin D28K, which is dense in the core and virtually absent in the shell." [NLXANAT:20090307] subset: efo_slim synonym: "accumbens nucleus shell" RELATED [BAMS:AcbSh] synonym: "accumbens nucleus, shell" RELATED [BAMS:AcbSh] synonym: "nucleus accumbens shell" EXACT [NLXANAT:20090307] synonym: "shell of nucleus accumbens" EXACT [NLXANAT:20090307] synonym: "shell region of nucleus accumbens" EXACT [FMA:77387] xref: BAMS:ACBs xref: BAMS:AcbSh xref: DHBA:10341 xref: EFO:0002459 xref: FMA:77387 xref: neuronames:1163 xref: NLXANAT:20090307 xref: PBA:10094 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0001882 ! nucleus accumbens [Term] id: UBERON:0012249 name: ectocervix namespace: uberon alt_id: UBERON:0010182 def: "The part of the cervix uteri that protrudes into the vagina and is lined with stratified squamous epithelium." [BTO:0001850, Wikipedia:Vaginal_portion_of_cervix] subset: human_reference_atlas synonym: "ectocervix" EXACT [BTO:0001850, FMA:86484] synonym: "exocervix" RELATED [BTO:0001850] synonym: "portio vaginalis" EXACT [Wikipedia:Vaginal_portion_of_cervix] synonym: "portio vaginalis cervicis" EXACT LATIN [BTO:0001850] synonym: "uterine ectocervix" EXACT [CALOHA:TS-1098] synonym: "vaginal part of cervix" EXACT [FMA:77056] xref: BTO:0001850 xref: CALOHA:TS-1098 xref: FMA:77056 xref: FMA:86484 xref: NCIT:C12310 xref: SCTID:264459002 xref: UMLS:C0227829 {source="ncithesaurus:Ectocervix"} xref: Wikipedia:Vaginal_portion_of_cervix is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000002 ! uterine cervix relationship: part_of UBERON:0000990 ! reproductive system property_value: RO:0002175 NCBITaxon:9606 property_value: UBPROP:0000012 "distinction between two FMA classes not clear - we merge them here" xsd:string {external_ontology="FMA"} [Term] id: UBERON:0012652 name: colorectum namespace: uberon def: "The subdivision of the digestive tract that consists of the colon and the rectum." [http://orcid.org/0000-0002-6601-2165] xref: BTO:0001613 xref: CALOHA:TS-1298 xref: NCIT:C54189 xref: UMLS:C1711309 {source="ncithesaurus:Colorectal_Region"} is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000059 ! large intestine property_value: has_relational_adjective "colorectal" xsd:string [Term] id: UBERON:0013203 name: hypogastrium namespace: uberon def: "The hypogastrium (or hypogastric region, or pubic region) is an area of the human abdomen located below the navel." [Wikipedia:Hypogastrium] synonym: "hypogastric part of abdomen" EXACT [FMA:14602] synonym: "hypogastric region" EXACT [FMA:14602] synonym: "hypogastric region" RELATED [Wikipedia:Hypogastrium] synonym: "pubic part of abdomen" EXACT [FMA:14602] synonym: "pubic region" EXACT [FMA:14602] synonym: "pubic region" RELATED [Wikipedia:Hypogastrium] synonym: "regio pubica" EXACT [FMA:TA] synonym: "suprapubic region" EXACT [FMA:14602] xref: CALOHA:TS-2346 xref: FMA:14602 xref: NCIT:C32755 xref: SCTID:182348003 xref: UMLS:C0230189 {source="ncithesaurus:Hypogastric_Region"} xref: Wikipedia:Hypogastrium is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000916 ! abdomen relationship: part_of UBERON:0002100 ! trunk property_value: has_relational_adjective "hypogastric" xsd:string [Term] id: UBERON:0013691 name: buttock namespace: uberon def: "A zone of soft tissue located on the posterior of the lateral side of the pelvic region corresponding to the gluteal muscles." [http://orcid.org/0000-0002-6601-2165, Wikipedia:Buttocks] subset: efo_slim subset: pheno_slim synonym: "buttocks" RELATED PLURAL [Wikipedia:Buttocks] synonym: "clunis" EXACT [FMA:25245] synonym: "gluteal part of pelvic girdle" EXACT [FMA:25245] synonym: "gluteal region" EXACT [FMA:25245] synonym: "regio glutealis" EXACT LATIN [FMA:TA] xref: CALOHA:TS-2224 xref: EFO:0003070 xref: FMA:25245 xref: MESH:D002081 xref: NCIT:C89806 xref: SCTID:362677002 xref: UMLS:C0006497 {source="ncithesaurus:Buttock"} xref: Wikipedia:Buttocks is_a: EFO:0000808 ! animal body part relationship: UBPROP:0000202 FMA:76446 ! fma_set_term property_value: has_relational_adjective "gluteal" xsd:string [Term] id: UBERON:0013702 name: body proper namespace: uberon def: "The region of the organism associated with the visceral organs." [AEO:0000103] subset: non_informative synonym: "body" RELATED [AEO:0000103] synonym: "whole body" RELATED [BTO:0001489] xref: AEO:0000103 xref: BTO:0001489 xref: EMAPA:36031 xref: FMA:231424 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000468 ! multicellular organism property_value: external_definition "Cardinal body part, which consists of a maximal set of diverse subclasses of organ and organ part spatially associated with the vertebral column and ribcage. Examples: There is only one body proper[FMA:231424]." xsd:string {source="FMA:231424"} [Term] id: UBERON:0014371 name: future telencephalon namespace: uberon def: "Embryonic structure that gives rise to the telencephalon." [ZFA:0000571, ZFA:curator] comment: paired anteriolateral division of the embryonic prosencephalon plus the lamina terminalis from which the olfactory lobes, cerebral cortex, and subcortical nuclei are derived[MP] synonym: "presumptive telencephalon" EXACT [ZFA:0000571] xref: EHDAA2:0004424 xref: EMAPA:36024 xref: TAO:0000571 xref: ZFA:0000571 is_a: EFO:0003332 ! zebrafish embryonic structure is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0006240 ! future forebrain [Term] id: UBERON:0014374 name: embryoid body namespace: uberon def: "Embryoid bodies (EBs) are three-dimensional aggregates of pluripotent stem cells." [EFO:0004988, https://github.com/obophenotype/uberon/issues/245] subset: efo_slim synonym: "embryonic body" RELATED [Wikipedia:Embryoid_body] xref: BTO:0001718 xref: EFO:0004988 xref: MESH:D058732 xref: Wikipedia:Embryoid_body is_a: UBERON:0002050 ! embryonic structure property_value: external_definition "Embryoid bodies are structures resembling embryos, occurring in several types of germ cell tumors[BTO]." xsd:string {reference="Dorlands_Medical_Dictionary:MerckSource", source="BTO:0001718"} property_value: IAO:0000116 "in future this class may be ceded to another ontology if it falls outside the scope of in-vivo, non-pathological biology" xsd:string [Term] id: UBERON:0014454 name: visceral abdominal adipose tissue namespace: uberon def: "Subcutaneous adipose tissue that is located in the peritoneal cavity." [CALOHA:paula, http://orcid.org/0000-0002-6601-2165, https://github.com/obophenotype/uberon/issues/259, MGI:csmith] synonym: "abdominal fat" RELATED [BTO:0004041] synonym: "intra-abdominal adipose tissue" RELATED [] synonym: "intra-abdominal fat" RELATED [BTO:0004041] synonym: "organ fat" RELATED [BTO:0004041] synonym: "visceral adipose tissue" RELATED [BTO:0004041] synonym: "visceral fat" RELATED [BTO:0004041] xref: BTO:0004041 xref: CALOHA:TS-2405 is_a: UBERON:0007808 ! adipose tissue of abdominal region relationship: part_of UBERON:0000916 ! abdomen property_value: external_definition "Adipose tissue located inside the peritoneal cavity, packed in between internal organs and torso. An excess of visceral fat is known as central obesity, or belly fat, the pot belly or beer belly effect, in which the abdomen protrudes excessively[BTO:0004041]." xsd:string {source="BTO:0004041"} property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/cindyJax property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/cmungall property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/paulacalipho [Term] id: UBERON:0014892 name: skeletal muscle organ namespace: uberon def: "A muscle organ that consists of skeletal muscle tissue ensheathed in epimysium, that develops from myotome and that is innervated by some somatic motor neuron. Skeletal muscles are typically attached (via a tendon) to a bone but there are exceptions (e.g. intrinsic tongue muscles)." [GOC:dos] synonym: "skeletal muscle" BROAD [] xref: AAO:0011099 xref: BTO:0001103 xref: CALOHA:TS-0933 xref: EFO:0000888 xref: EHDAA:5035 xref: EHDAA:5043 xref: EHDAA:5978 xref: EHDAA:5984 xref: EMAPA:35988 xref: EV:0100377 xref: GAID:141 xref: MA:0003148 xref: MAT:0000302 xref: MESH:D018482 xref: MIAA:0000302 xref: TAO:0005277 xref: VHOG:0000319 xref: XAO:0000174 xref: ZFA:0005277 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001015 ! musculature property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0000888 xsd:string [Term] id: UBERON:0014903 name: primordial vasculature namespace: uberon def: "A portion of tissue that will develop into vasculature." [ZFA:0005076, ZFA:curator] xref: EFO:0003708 xref: TAO:0005076 xref: ZFA:0005076 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001048 ! primordium [Term] id: UBERON:0014907 name: intersomitic vessel namespace: uberon def: "One of the primary blood vessel sprouts that originate from the dorsal aorta and posterior cardinal vein and align dorsoventrally at the myotomal boundaries between somites." [MGI:anna] subset: pheno_slim synonym: "intersegmental vessel" EXACT [ZFA:0001285] synonym: "intersegmental vessels" EXACT PLURAL [ZFA:0001285] synonym: "intersomitic blood vessel" EXACT [XAO:0004075] synonym: "intersomitic vessels" EXACT PLURAL [ZFA:0001285] synonym: "segmental vessel" EXACT [ZFA:0001285] xref: EFO:0003664 xref: EMAPA:37389 {source="MA:th"} xref: TAO:0001285 xref: XAO:0004075 xref: ZFA:0001285 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001981 ! blood vessel property_value: external_definition "Blood vessels that connect the dorsal aorta or the posterior cardinal vein and the dorsal longitudinal anastomotic vessel. They run along the vertical myotomal boundaries. At early stages these don't have venous or arterial markers[ZFA:0001285, ZFIN:ZDB-PUB-030908-4]." xsd:string {source="ZFA:0001285, ZFIN:ZDB-PUB-030908-4"} [Term] id: UBERON:0014930 name: perivascular space namespace: uberon def: "The space between a blood vessel and the pia mater." [DOI:10.1007/s11064-015-1581-6, ncithesaurus:Perivascular_Space] comment: VRS belonging to the subarachnoid space are continuous with VRS of the subpial space. The direct communication between VRS of the subarachnoid space and the subpial space is unique to the brain's arteries, as no leptomeningeal layers surround the brain's veins[WP] subset: pheno_slim synonym: "perivascular region" EXACT [] synonym: "perivascular spaces" RELATED PLURAL [] synonym: "Virchow-Robin space" EXACT [Wikipedia:Virchow-Robin_space] synonym: "VRS" BROAD ABBREVIATION [Wikipedia:Virchow-Robin_space] xref: NCIT:C83196 xref: SCTID:342298001 xref: UMLS:C0225983 xref: Wikipedia:Virchow-Robin_space is_a: UBERON:0001062 ! anatomical entity relationship: part_of UBERON:0010743 ! meningeal cluster property_value: depicted:by https://static-content.springer.com/image/art%3A10.1007%2Fs11064-015-1581-6/MediaObjects/11064_2015_1581_Fig3_HTML.gif xsd:anyURI [Term] id: UBERON:0015238 name: pineal complex namespace: uberon def: "A cluster in the epithalamus that consists of the pineal body and any associated structures, such as the parapineal gland or the parietal organ. The complex is poorly developed in mammals." [http://orcid.org/0000-0002-6601-2165] xref: TAO:0001359 xref: ZFA:0001359 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0001899 ! epithalamus relationship: RO:0002174 NCBITaxon:40674 ! dubious_for_taxon [Term] id: UBERON:0015423 name: hilar portion of hepatic duct namespace: uberon def: "The segment of either hepatic duct located in the hilum of the liver." [ncithesaurus:Hilar_Portion_of_the_Hepatic_Duct] synonym: "hilar part of hepatic duct" EXACT [MA:0002665] xref: EMAPA:37599 {source="MA:th"} xref: MA:0002665 xref: NCIT:C43630 xref: UMLS:C1711262 is_a: UBERON:0002394 ! bile duct [Term] id: UBERON:0016405 name: pulmonary capillary namespace: uberon def: "A capillary that is part of a lung." [OBOL:automatic] subset: human_reference_atlas subset: pheno_slim synonym: "capillary of lung" EXACT [FMA:14121] xref: FMA:14121 is_a: UBERON:0001982 ! capillary is_a: UBERON:0003512 ! lung blood vessel intersection_of: UBERON:0001982 ! capillary intersection_of: part_of UBERON:0002048 ! lung relationship: part_of UBERON:0001004 ! respiratory system relationship: part_of UBERON:0002048 ! lung relationship: part_of UBERON:0002169 ! alveolar sac property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0016525 name: frontal lobe namespace: uberon def: "Frontal lobe is the anterior-most of five lobes of the cerebral hemisphere. It is bounded by the central sulcus on its posterior border and by the longitudinal cerebral fissure on its medial border." [FMA:61824] subset: efo_slim subset: human_reference_atlas synonym: "frontal cortex" NARROW [FMA:61824] synonym: "frontal region" BROAD [FMA:61824] synonym: "lobi frontales" EXACT LATIN [NeuroNames:56] synonym: "lobus frontalis" EXACT LATIN [Wikipedia:Frontal_lobe] synonym: "regio frontalis" BROAD LATIN [FMA:61824, FMA:TA] xref: BAMS:Frontal_lobe xref: BIRNLEX:928 xref: BM:Tel-Cx-FR xref: CALOHA:TS-0389 xref: DHBA:12113 xref: EFO:0000913 xref: EV:0100167 xref: FMA:61824 xref: HBA:4009 xref: MAT:0000505 xref: MESH:D005625 xref: NCIT:C12352 xref: neuronames:56 {source="BIRNLEX:928"} xref: SCTID:180920004 xref: UMLS:C0016733 {source="BIRNLEX:928", source="ncithesaurus:Frontal_Lobe"} xref: UMLS:C1268977 {source="BIRNLEX:928"} is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0001869 ! cerebral hemisphere property_value: IAO:0000116 "Many species don't have lobes but they do have frontal cortex. Lobe isn't a really well defined term though" xsd:string {source="MM"} property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0016540 name: occipital cortex namespace: uberon synonym: "cortex of occipital lobe" EXACT [FMA:242205] synonym: "gray matter of occipital lobe" RELATED [FMA:242205] synonym: "occipital lobe cortex" EXACT [FMA:242205] synonym: "occipital neocortex" EXACT [DHBA:10268] xref: DHBA:10268 xref: DMBA:16030 xref: EMAPA:35604 xref: FMA:242205 xref: MA:0000913 xref: PBA:4004 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001017 ! central nervous system relationship: part_of UBERON:0001869 ! cerebral hemisphere relationship: part_of UBERON:0001890 ! forebrain relationship: part_of UBERON:0001893 ! telencephalon relationship: part_of UBERON:0001950 ! neocortex relationship: part_of UBERON:0002021 ! occipital lobe [Term] id: UBERON:0016552 name: phlegm namespace: uberon def: "Mucus produced in the respiratory tract." [http://orcid.org/0000-0002-6601-2165] xref: NCIT:C93171 xref: UMLS:C0225378 is_a: UBERON:0006314 ! bodily fluid relationship: part_of UBERON:0000468 ! multicellular organism [Term] id: UBERON:0018244 name: superficial cervical thymus namespace: uberon def: "A cervical thymus that is located directly beneath the skin." [DOI:10.1071/ZO9730285] is_a: UBERON:0009114 ! cervical thymus property_value: RO:0002175 NCBITaxon:9263 property_value: taxon_notes "apparently absent in polyprotodont species (Didelphidae, Dasyuridae, Thylacinidae, Notoryctidae, Peramelidae, and Caenolestidae); paired lobes found in diprotodont (Burramyidae, Petauridae, Phalangeridae, Phascolarctidae, and Tarsipedidae)[DOI:10.1071/ZO9730285]" xsd:string [Term] id: UBERON:0018245 name: deep cervical thymus namespace: uberon def: "A cervical thymus that is located deep in the ventral cervical region, superficial to hyoid, sternomastoid, and depressor neck muscles." [DOI:10.1071/ZO9730285] is_a: UBERON:0009114 ! cervical thymus [Term] id: UBERON:0018549 name: ventral wall of dorsal aorta namespace: uberon def: "Region where blood progenitor markers are expressed. Probable site of definitive hematopoiesis between 36hpf and 4dpf." [ZFA:0005028, ZFA:curator] synonym: "DA roof" RELATED [ZFA:0005028] synonym: "DA-PCV joint" EXACT [ZFA:0005028] synonym: "DA-PCV joint" NARROW [ZFA:0005028] synonym: "dorsal aorta - posterior cardinal vein joint" EXACT [ZFIN:ZDB-PUB-061227-29] synonym: "DP joint" RELATED [ZFA:0005028] xref: EFO:0003699 xref: TAO:0005028 xref: ZFA:0005028 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0002390 ! hematopoietic system [Term] id: UBERON:0019189 name: carotid artery endothelium namespace: uberon synonym: "carotid endothelium" RELATED [BTO:0004626] synonym: "carotid epithelium" RELATED [] xref: BTO:0004626 is_a: EFO:0001954 ! division of carotid artery is_a: UBERON:0001986 ! endothelium intersection_of: UBERON:0001986 ! endothelium intersection_of: part_of UBERON:0005396 ! carotid artery segment relationship: part_of UBERON:0001637 ! artery relationship: part_of UBERON:0001981 ! blood vessel relationship: part_of UBERON:0004535 ! cardiovascular system relationship: part_of UBERON:0005396 ! carotid artery segment [Term] id: UBERON:0022353 name: posterior cingulate cortex namespace: uberon def: "Component of the cingulate cortex. The rostral and caudal extent were the caudal anterior and the isthmus divisions of the cingulate cortex respectively. The medial and lateral boundaries were the corpus callosum and as the superior frontal gyrus and/or paracentral lobule respectively (Christine Fennema-Notestine)." [BIRNLEX:950] synonym: "cingulate gyrus, posterior division" RELATED [http://orcid.org/0000-0001-6755-0259] synonym: "posterior cingular cortex" RELATED [Wikipedia:Posterior_cingulate] synonym: "posterior cingulate" BROAD [Wikipedia:Posterior_cingulate] xref: BIRNLEX:950 xref: BTO:0004250 xref: EFO:0002471 xref: FMA:271593 xref: Wikipedia:Posterior_cingulate is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0003027 ! cingulate cortex property_value: IAO:0000116 "check relationship to gyrus. See https://github.com/obophenotype/uberon/issues/626" xsd:string [Term] id: UBERON:0024151 name: tegmentum namespace: uberon def: "The ventral topographic division of the midbrain; the dorsal topographic division is the tectum. Meckel (1817; see English translation, 1832, vol. 2, p. 467) apparently introduced the term and roughly its definition here for macrodissected adult humans, except he excluded the cerebral peduncle (Tarin, 1753), a white matter tract at the base of the midbrain, which is still common today but is included here. As defined here, tegmentum refers to the whole of the midbrain (Baer, 1837) excluding the tectum but including the pretectal region (Scalia, 1972); see Swanson (2000, pp. 522, 526). Usage of this term is very complex, inconsistent, and illogical; see for example Crosby et al. (1962, pp. 221, 260, 262), Carpenter (1976, p. 367 ff.)." [BIRNLEX:1031] subset: human_reference_atlas synonym: "tegmentum" EXACT HUMAN_PREFERRED [BIRNLEX:1031] xref: BIRNLEX:1031 xref: Wikipedia:Tegmentum is_a: UBERON:0001062 ! anatomical entity relationship: part_of UBERON:0000955 ! brain property_value: RO:0002175 NCBITaxon:9606 [Term] id: UBERON:0034919 name: juvenile stage namespace: uberon def: "The stage of being no more dependent of the nest and/or from caregivers for subsistence while having not reach sexual maturity." [Bgee:AN, https://github.com/obophenotype/uberon/issues/645] is_a: EFO:0000399 ! developmental stage relationship: part_of UBERON:0000112 ! sexually immature stage property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/ANiknejad property_value: http://purl.org/dc/elements/1.1/contributor https://github.com/cmungall [Term] id: UBERON:0035652 name: fibular nerve namespace: uberon def: "Any nerve that innervates the fibularis. Includes the common fibular nerve, and its branches." [UBERON:cjm] subset: grouping_class synonym: "peroneal nerve" EXACT [] xref: EMAPA:36511 xref: MESH:D010543 is_a: UBERON:0001021 ! nerve [Term] id: UBERON:0035814 name: pericardial fat namespace: uberon def: "The sum of epicardial and paracardial fat deposits." [DOI:10.5935/abc.20130138] xref: SCTID:42267001 xref: ZFA:0005765 is_a: UBERON:0001013 ! adipose tissue [Term] id: UBERON:0036295 name: renal pelvis/ureter namespace: uberon def: "The upper tract of the renal system. The renal pelvis is the large cavity in the middle of each kidney. Urine drains from each kidney through a long tube called the ureter, into the bladder, where it is stored until it is passed from the body through the urethra." [NCIT:C54419] synonym: "renal pelvis and ureter" EXACT [] synonym: "renal pelvis plus ureter" EXACT [] xref: NCIT:C54419 is_a: UBERON:0001062 ! anatomical entity relationship: part_of UBERON:0011143 ! upper urinary tract [Term] id: UBERON:2000033 name: intermediate cell mass of mesoderm namespace: uberon synonym: "ICM" EXACT [TAO:0000033] synonym: "intermediate cell mass of Oellacher" EXACT [TAO:0000033] synonym: "posterior intermediate cell mass" EXACT [TAO:0000033] xref: ZFA:0000033 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0002390 ! hematopoietic system property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000040 name: median fin fold namespace: uberon def: "Surface structure that will develop into one of the median fins. Extends from dorsal surface of fish, caudal to the 8th somite, to the ventral surface ending at the caudal side of the vent." [ZFIN:curator] synonym: "median fin" RELATED [TAO:0000040] synonym: "median fin-fold" RELATED [TAO:0000040] synonym: "median fin-folds" RELATED PLURAL [TAO:0000040] xref: ZFA:0000040 is_a: EFO:0003331 ! zebrafish component relationship: never_in_taxon NCBITaxon:32523 {source="https://github.com/obophenotype/uberon/issues/2050"} property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000058 name: polster namespace: uberon def: "The hatching gland rudiment at the time it underlies the forebrain during the early segmentation period. Kimmel et al, 1995." [ZFIN:curator] synonym: "pillow" EXACT [ZFIN:ZDB-PUB-961014-576] xref: ZFA:0000058 is_a: EFO:0003332 ! zebrafish embryonic structure is_a: UBERON:0002050 ! embryonic structure property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000072 name: somite 1 namespace: uberon def: "Anteriormost undifferentiated mesodermal component of early trunk segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome. Kimmel et al, 1995." [ZFIN:curator] xref: ZFA:0000072 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0000483 ! epithelium property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} property_value: UBPROP:0000108 "1" xsd:nonNegativeInteger [Term] id: UBERON:2000073 name: somite 5 namespace: uberon def: "Undifferentiated mesodermal component of early trunk segment 5 or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome. Kimmel et al, 1995." [ZFIN:curator] xref: ZFA:0000073 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0000483 ! epithelium property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} property_value: UBPROP:0000108 "5" xsd:nonNegativeInteger [Term] id: UBERON:2000083 name: ventral mesoderm namespace: uberon xref: ZFA:0000083 is_a: UBERON:0000926 ! mesoderm property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000090 name: apical ectodermal ridge dorsal fin namespace: uberon def: "Apical ectodermal ridge that is part of the dorsal fin." [ZFIN:curator] xref: ZFA:0000090 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000924 ! ectoderm property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000096 name: cardinal system namespace: uberon xref: ZFA:0000096 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0002049 ! vasculature relationship: part_of UBERON:0004535 ! cardiovascular system property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000120 name: lateral line ganglion namespace: uberon def: "Ganglion that develops from a cranial ectodermal placode and contains sensory neurons that innervate a lateral line." [ZFA:0000120, ZFA:curator] subset: efo_slim synonym: "lateral line ganglia" EXACT PLURAL [TAO:0000120] synonym: "LLG" EXACT ABBREVIATION [TAO:0000120] xref: EFO:0003493 xref: TAO:0000120 xref: XAO:0004457 xref: ZFA:0000120 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001714 ! cranial ganglion relationship: part_of UBERON:0002540 ! lateral line system [Term] id: UBERON:2000125 name: mandibular lateral line neuromast namespace: uberon def: "Neuromast that is part of the mandibular lateral line. Kimmel et al, 1995. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.)." [ZFIN:curator] synonym: "neuromast mandibular" EXACT [TAO:0000125] synonym: "neuromasts mandibular" EXACT PLURAL [TAO:0000125] xref: ZFA:0000125 is_a: UBERON:0008904 ! neuromast property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000136 name: otic lateral line neuromast namespace: uberon def: "Neuromast that is part of the otic lateral line. Kimmel et al, 1995. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.)." [ZFIN:curator] synonym: "neuromast otic" EXACT [TAO:0000136] synonym: "neuromasts otic" EXACT PLURAL [TAO:0000136] xref: ZFA:0000136 is_a: UBERON:0008904 ! neuromast property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000164 name: ventral mesenchyme namespace: uberon xref: ZFA:0000164 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000468 ! multicellular organism property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000175 name: posterior lateral line nerve namespace: uberon def: "Cranial nerve which enters the brain between cranial nerves VIII and IX; contains afferents and sensory efferents to the posterior lateral line ganglion and middle ganglion. Fibers from the posterior lateral line ganglion innervate the occipital dorsal lateral line and trunk lateral lines." [ZFIN:curator] synonym: "caudal lateral line nerve" EXACT [TAO:0000175] xref: ZFA:0000175 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001021 ! nerve relationship: part_of UBERON:0000033 ! head relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0002540 ! lateral line system relationship: part_of UBERON:2001471 ! posterior lateral line system property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000212 name: granular eminence namespace: uberon xref: ZFA:0000212 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0002037 ! cerebellum property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000240 name: metapterygoid namespace: uberon def: "Endochondral bone that forms the posteriormost element of the palatal complex. It overlies the quadrate and symplectic, posteriorly it articulates with the hyomandibula and anteriorly with the entopterygoid and ectopterygoid. It curves dorsally to form the posteroventral surface of the orbit. The metapterygoid is paired." [ZFIN:curator] synonym: "metapterygoids" EXACT PLURAL [TAO:0000240] xref: ZFA:0000240 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001474 ! bone element relationship: part_of UBERON:0000033 ! head relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001007 ! digestive system relationship: part_of UBERON:0001434 ! skeletal system relationship: part_of UBERON:0011085 ! palatoquadrate arch property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000250 name: opercle namespace: uberon def: "Dermal bone that forms the postero-dorsal part of the opercular series. The opercle articulates with the hyomandibula antero-dorsally and with the subopercle ventrally. The opercle is a paired bone." [TAO:GA_TG] comment: The opercle is usually a large, flat bone that may be partially covered by the posterior region of the preopercle. synonym: "opercles" EXACT PLURAL [TAO:0000250] synonym: "operculare" EXACT [TAO:0000250] synonym: "operculum" EXACT [TAO:0000250] xref: ZFA:0000250 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001474 ! bone element relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001434 ! skeletal system property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000264 name: preopercle namespace: uberon def: "Dermal bone that is part of the opercular series and bears the preopercular sensory canal. The preopercle is a paired bone and typically L-shaped, with the horizontal limb overlying the interopercle and the vertical limb overlying the opercle." [TAO:wd] synonym: "preopercles" EXACT PLURAL [TAO:0000264] synonym: "preoperculum" EXACT [TAO:0000264] xref: ZFA:0000264 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001474 ! bone element relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001434 ! skeletal system property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000284 name: subopercle namespace: uberon def: "Dermal bone that is part of the opercular series, lying below the opercle. The subopercle is paired and is typically a thin bone." [TAO:wd] synonym: "subopercles" EXACT PLURAL [TAO:0000284] xref: ZFA:0000284 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001474 ! bone element relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001434 ! skeletal system property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000291 name: medial octavolateralis nucleus namespace: uberon def: "Lateral line sensory nucleus located in the cerebellum that processes sensory input from the lateral line." [ZFA:0000291] xref: ZFA:0000291 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001017 ! central nervous system relationship: part_of UBERON:0001896 ! medulla oblongata relationship: part_of UBERON:0002028 ! hindbrain relationship: part_of UBERON:0002298 ! brainstem property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000294 name: torus lateralis namespace: uberon xref: ZFA:0000294 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001017 ! central nervous system relationship: part_of UBERON:0001894 ! diencephalon relationship: part_of UBERON:2000633 ! caudal tuberculum property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000309 name: external yolk syncytial layer namespace: uberon def: "The portion of the YSL that is outside of the blastoderm margin during epiboly. Kimmel et al, 1995." [ZFIN:curator] synonym: "E-YSL" EXACT [ZFIN:ZDB-PUB-961014-576] xref: ZFA:0000309 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0002050 ! embryonic structure property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000414 name: presumptive cephalic mesoderm namespace: uberon xref: ZFA:0000414 is_a: EFO:0003332 ! zebrafish embryonic structure is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000926 ! mesoderm property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000419 name: pterosphenoid namespace: uberon def: "Endochondral bone that sutures with the orbitosphenoid anteriorly, the frontal bone dorsally and the sphenotic and prootic posteriorly. The pterosphenoid forms part of the orbitosphenoid region. The pterosphenoid bears foramina that accommodate branches of the trigeminal and facial nerves. The pterosphenoid is a paired bone." [ZFIN:curator] synonym: "alisphenoid" EXACT [TAO:0000419] synonym: "pterosphenoids" EXACT PLURAL [TAO:0000419] xref: ZFA:0000419 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001474 ! bone element relationship: part_of UBERON:0000033 ! head relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001434 ! skeletal system relationship: part_of UBERON:0003128 ! cranium property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000422 name: retroarticular namespace: uberon def: "The retroarticular is a cartilage bone that forms at the posteroventral tip of Meckel's cartilage where the interoperculomandibular ligament attaches (5.1 mm NL). In the adult it is basically triangular in shape. The retroarticular is ligamentously connected to the interopercle and preopercle posteriorly and abuts the ventral shelf of the dentary anteriorly." [ZFIN:curator] xref: ZFA:0000422 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001474 ! bone element relationship: part_of UBERON:0000033 ! head relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001007 ! digestive system relationship: part_of UBERON:0001434 ! skeletal system property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000425 name: anterior lateral line nerve namespace: uberon def: "Cranial nerve which enters the brain between cranial nerves VI and VII; contains afferents and sensory efferents to the anterior lateral line ganglia." [ZFIN:curator] synonym: "rostral lateral line nerve" EXACT [TAO:0000425] xref: ZFA:0000425 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001021 ! nerve relationship: part_of UBERON:0000033 ! head relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0002540 ! lateral line system relationship: part_of UBERON:2001468 ! anterior lateral line system property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000475 name: paraventricular organ namespace: uberon xref: ZFA:0000475 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001017 ! central nervous system relationship: part_of UBERON:0001894 ! diencephalon relationship: part_of UBERON:2000633 ! caudal tuberculum property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000482 name: caudal tuberal nucleus namespace: uberon synonym: "posterior tuberal nucleus" EXACT [TAO:0000482] xref: ZFA:0000482 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001017 ! central nervous system relationship: part_of UBERON:0001894 ! diencephalon relationship: part_of UBERON:2000633 ! caudal tuberculum property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000516 name: periventricular grey zone namespace: uberon xref: ZFA:0000516 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0001945 ! superior colliculus property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000549 name: posttemporal namespace: uberon def: "Dermal bone of the secondary pectoral girdle that attaches the girdle to the skull. Its dorsal process attaches to the epiotic or epioccipital, the ventral process to the intercalar and the body articulates with the supracleithrum. The postotic sensory canal or lateral line runs within or lateral to bone." [TAO:GA_TG] comment: The posttemporal is commonly a Y-shaped bone with two elongate processes. The dorsal process may be equal or longer than the ventral process or the opposite. The ventral process may be absent in some teleosts. synonym: "post-temporal" EXACT [TAO:0000549] synonym: "postemporal" EXACT [TAO:0000549] synonym: "posttemporale" EXACT [TAO:0000549] synonym: "suprascapula" RELATED [TAO:0000549] xref: ZFA:0000549 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001474 ! bone element relationship: part_of UBERON:0000033 ! head relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001434 ! skeletal system relationship: part_of UBERON:0002091 ! appendicular skeleton relationship: part_of UBERON:0003128 ! cranium property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000599 name: torus semicircularis namespace: uberon xref: ZFA:0000599 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0002314 ! midbrain tectum property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000603 name: valvula cerebelli namespace: uberon def: "Brain structure which is caudally attached to the rostral medulla oblongata and extends into the tectal ventricle. The valvula cerebelli consists of a granular and a molecular layer along with aggregations of large Purkinje and eurydendroid cells and is uniquely present in ray-finned fishes. From Neuroanatomy of the Zebrafish Brain." [ISBN:3764351209, ZFA:0000603, ZFA:curator] synonym: "valvula" RELATED [ZFA:0000603] synonym: "valvula cerebellum" EXACT PLURAL [TAO:0000603, ZFA:0000603] xref: TAO:0000603 xref: ZFA:0000603 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0002037 ! cerebellum property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000610 name: vertical myoseptum namespace: uberon def: "Connective tissue partitions developing between the myotomes. Kimmel et al, 1995." [ZFIN:curator] synonym: "transverse myoseptum" EXACT [TAO:0000610] xref: ZFA:0000610 is_a: UBERON:2001089 ! myoseptum property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000627 name: posterior ceratohyal namespace: uberon def: "Replacement bone that is bilaterally paired and articulates anteriorly with the anterior ceratohyal." [ZFIN:curator] comment: Posterohyal is used in Rapp Py Daniel (1997). synonym: "caudal ceratohyal" EXACT [TAO:0000627] synonym: "epihyal" EXACT [TAO:0000627] synonym: "posterohyal" EXACT [TAO:0000627] synonym: "proximal ceratohyal" RELATED [TAO:0000627] xref: ZFA:0000627 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001474 ! bone element relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001434 ! skeletal system relationship: part_of UBERON:0011153 ! ventral hyoid arch skeleton property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000633 name: caudal tuberculum namespace: uberon synonym: "posterior tubercle" EXACT [TAO:0000633] synonym: "posterior tuberculum" EXACT [TAO:0000633] xref: ZFA:0000633 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001016 ! nervous system relationship: part_of UBERON:0001894 ! diencephalon property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000645 name: descending octaval nucleus namespace: uberon xref: ZFA:0000645 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001017 ! central nervous system relationship: part_of UBERON:0001896 ! medulla oblongata relationship: part_of UBERON:0002028 ! hindbrain relationship: part_of UBERON:0002298 ! brainstem property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000648 name: dorsal fin musculature namespace: uberon def: "Musculature that is part of the dorsal fin." [ZFA:0000648, ZFA:curator] subset: efo_slim xref: EFO:0003551 xref: TAO:0000648 xref: ZFA:0000648 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001015 ! musculature relationship: part_of UBERON:0000026 ! appendage relationship: part_of UBERON:0001137 ! dorsum property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000657 name: entopterygoid namespace: uberon def: "Dermal bone that forms the ventro-medial part of the palate and the antero-ventral and ventral wall of the orbit. The entopterygoid is a paired bone." [TAO:GA_TG] synonym: "endopterygoid bone" EXACT [] synonym: "mesopterygoid" EXACT [TAO:0000657] xref: ZFA:0000657 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001474 ! bone element relationship: part_of UBERON:0000033 ! head relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001007 ! digestive system relationship: part_of UBERON:0001434 ! skeletal system relationship: part_of UBERON:0011085 ! palatoquadrate arch property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000674 name: interopercle namespace: uberon def: "Dermal bone that is part of the opercular series. It is located ventro-medially to the preopercle and anterior to the subopercle. It is joined to the posterior part of the lower jaw (retroarticular) by a ligament. The interopercle is paired." [TAO:wd] synonym: "interopercles" EXACT PLURAL [TAO:0000674] xref: ZFA:0000674 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001474 ! bone element relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001434 ! skeletal system property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000677 name: segmental intercostal artery namespace: uberon subset: efo_slim synonym: "segmental intercostal arteries" EXACT PLURAL [TAO:0000677] xref: EFO:0003558 xref: TAO:0000677 xref: ZFA:0000677 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001637 ! artery relationship: part_of UBERON:0000915 ! thoracic segment of trunk relationship: part_of UBERON:0001515 ! thoracic aorta relationship: part_of UBERON:0002100 ! trunk [Term] id: UBERON:2000692 name: symplectic namespace: uberon def: "Replacement bone that is bilaterally paired and articulates with the hyomandibula and the quadrate." [ZFIN:curator] comment: When the interhyal bone or cartilage is present it articulates at the articulation of the hyomandibula and symplectic. xref: ZFA:0000692 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001474 ! bone element relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001434 ! skeletal system property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000693 name: tangential nucleus namespace: uberon xref: ZFA:0000693 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001017 ! central nervous system relationship: part_of UBERON:0001896 ! medulla oblongata relationship: part_of UBERON:0002028 ! hindbrain relationship: part_of UBERON:0002298 ! brainstem property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000711 name: deep cell layer (gastrulation) namespace: uberon def: "A multilayer of deep cells of fairly uniform thickness that forms during early epiboly (at dome stage; upon conversion of the blastodisc to the blastoderm); during gastrulation the DEL (deep cell layer) gives rise to the epiblast and hypoblast. Kimmel et al, 1995." [ZFIN:curator] synonym: "DEL" EXACT ABBREVIATION [ZFIN:ZDB-PUB-961014-576] synonym: "DEL cells" EXACT PLURAL [TAO:0000711] xref: ZFA:0000711 is_a: EFO:0000795 ! animal developmental tissue is_a: UBERON:0002050 ! embryonic structure property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000712 name: internal yolk syncytial layer namespace: uberon def: "The portion of the YSL that lies deep to the blastoderm during epiboly. Kimmel et al, 1995." [ZFIN:curator] synonym: "I-YSL" EXACT [ZFIN:ZDB-PUB-961014-576] xref: ZFA:0000712 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0002050 ! embryonic structure property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000726 name: somite 14 namespace: uberon def: "Undifferentiated mesodermal component of early trunk segment 14 or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome. Kimmel et al, 1995." [ZFIN:curator] xref: ZFA:0000726 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0000483 ! epithelium property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} property_value: UBPROP:0000108 "14" xsd:nonNegativeInteger [Term] id: UBERON:2000728 name: somite 2 namespace: uberon def: "Undifferentiated mesodermal component of early trunk segment 2 or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome. Kimmel et al, 1995." [ZFIN:curator] xref: ZFA:0000728 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0000483 ! epithelium property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} property_value: UBPROP:0000108 "2" xsd:nonNegativeInteger [Term] id: UBERON:2000732 name: somite 3 namespace: uberon def: "Undifferentiated mesodermal component of early trunk segment 3 or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome. Kimmel et al, 1995." [ZFIN:curator] xref: ZFA:0000732 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0000483 ! epithelium property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} property_value: UBPROP:0000108 "3" xsd:nonNegativeInteger [Term] id: UBERON:2000813 name: infraorbital lateral line neuromast namespace: uberon def: "Neuromast that is part of the infraorbital lateral line. Kimmel et al, 1995. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.)." [ZFIN:curator] synonym: "neuromast infraorbital" EXACT [TAO:0000813] synonym: "neuromasts infraorbital" EXACT PLURAL [TAO:0000813] xref: ZFA:0000813 is_a: UBERON:0008904 ! neuromast property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000814 name: opercular lateral line neuromast namespace: uberon def: "Neuromast that is part of the opercular lateral line. Kimmel et al, 1995. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.)." [ZFIN:curator] synonym: "neuromast opercular" EXACT [TAO:0000814] synonym: "neuromasts opercular" EXACT PLURAL [TAO:0000814] xref: ZFA:0000814 is_a: UBERON:0008904 ! neuromast property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000815 name: nucleus of medial longitudinal fasciculus of medulla namespace: uberon subset: efo_slim synonym: "nucleus of MLF medulla" EXACT [http://orcid.org/0000-0002-6601-2165] synonym: "nucleus of the medial longitudinal fasciculus medulla oblongata" EXACT [ZFA:0000815] xref: EFO:0003577 xref: TAO:0000815 xref: ZFA:0000815 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000955 ! brain relationship: part_of UBERON:0001017 ! central nervous system relationship: part_of UBERON:0001896 ! medulla oblongata relationship: part_of UBERON:0002028 ! hindbrain relationship: part_of UBERON:0002298 ! brainstem [Term] id: UBERON:2000851 name: somite 12 namespace: uberon def: "Undifferentiated mesodermal component of early trunk segment 12 or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome. Kimmel et al, 1995." [ZFIN:curator] xref: ZFA:0000851 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0000483 ! epithelium property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} property_value: UBPROP:0000108 "12" xsd:nonNegativeInteger [Term] id: UBERON:2000857 name: somite 4 namespace: uberon def: "Undifferentiated mesodermal component of early trunk segment 4 or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome. Kimmel et al, 1995." [ZFIN:curator] xref: ZFA:0000857 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0000483 ! epithelium property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} property_value: UBPROP:0000108 "4" xsd:nonNegativeInteger [Term] id: UBERON:2000887 name: floor plate neural rod namespace: uberon synonym: "floorplate neural rod" EXACT [TAO:0000887] xref: ZFA:0000887 is_a: UBERON:0003079 ! floor plate relationship: part_of UBERON:0005068 ! neural rod property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000939 name: middle lateral line neuromast namespace: uberon def: "Neuromast that is part of the middle lateral line. Kimmel et al, 1995. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.)." [ZFIN:curator] subset: efo_slim synonym: "neuromast middle" EXACT [TAO:0000939] synonym: "neuromasts middle" EXACT PLURAL [TAO:0000939] xref: EFO:0003592 xref: TAO:0000939 xref: ZFA:0000939 is_a: UBERON:0008904 ! neuromast [Term] id: UBERON:2000940 name: posterior lateral line neuromast namespace: uberon def: "Neuromast that is part of the posterior lateral line. Kimmel et al, 1995. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.)." [ZFIN:curator] synonym: "neuromast posterior" EXACT [TAO:0000940] synonym: "neuromasts posterior" EXACT PLURAL [TAO:0000940] xref: ZFA:0000940 is_a: UBERON:0008904 ! neuromast relationship: part_of UBERON:0006334 ! posterior lateral line property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2000975 name: somite 13 namespace: uberon def: "Undifferentiated mesodermal component of early trunk segment 13 or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome. Kimmel et al, 1995." [ZFIN:curator] xref: ZFA:0000975 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0000483 ! epithelium property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} property_value: UBPROP:0000108 "13" xsd:nonNegativeInteger [Term] id: UBERON:2001025 name: occipital lateral line neuromast namespace: uberon def: "A neuromast that is part of the occipital lateral line." [ZFIN:curator] subset: efo_slim synonym: "neuromast occipital" EXACT [TAO:0001025] synonym: "neuromasts occipital" EXACT PLURAL [TAO:0001025] xref: EFO:0003606 xref: TAO:0001025 xref: ZFA:0001025 is_a: UBERON:0008904 ! neuromast [Term] id: UBERON:2001026 name: supraorbital lateral line neuromast namespace: uberon def: "A neuromast that is part of the supraorbital lateral line." [ZFIN:curator] subset: efo_slim synonym: "neuromast supraorbital" EXACT [TAO:0001026] synonym: "neuromasts supraorbital" EXACT PLURAL [TAO:0001026] xref: EFO:0003607 xref: TAO:0001026 xref: ZFA:0001026 is_a: UBERON:0008904 ! neuromast [Term] id: UBERON:2001051 name: caudal division of the internal carotid artery namespace: uberon synonym: "CaDI" EXACT [TAO:0001051] xref: ZFA:0001051 is_a: EFO:0001954 ! division of carotid artery is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000033 ! head relationship: part_of UBERON:0001532 ! internal carotid artery property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2001053 name: future internal carotid artery namespace: uberon synonym: "PICA" EXACT [TAO:0001053] synonym: "primitive internal carotid artery" EXACT [ZFA:0001053] xref: EFO:0003612 xref: TAO:0001053 xref: ZFA:0001053 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001637 ! artery [Term] id: UBERON:2001054 name: lateral dorsal aorta namespace: uberon def: "Connect the outflow of the aortic arches to the dorsal aorta. The place where the lateral dorsal aorta fuse is is called the radiax of the aorta. Isogai et al. 2001." [ZFIN:curator] synonym: "LDA" EXACT [TAO:0001054] xref: ZFA:0001054 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001637 ! artery property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2001059 name: cranial division of the internal carotid artery namespace: uberon synonym: "CrDI" EXACT [TAO:0001059] synonym: "rostral division of the internal carotid artery" EXACT [TAO:0001059] xref: ZFA:0001059 is_a: EFO:0001954 ! division of carotid artery is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000033 ! head relationship: part_of UBERON:0001532 ! internal carotid artery property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2001062 name: presumptive mesencephalic artery namespace: uberon def: "Precursor to mesencephalic artery." [http://orcid.org/0000-0002-6601-2165] subset: efo_slim synonym: "PMsA" EXACT [TAO:0001062] synonym: "primitive mesencephalic artery" EXACT [ZFA:0001062] xref: EFO:0003615 xref: TAO:0001062 xref: ZFA:0001062 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001637 ! artery property_value: external_definition "Branches dorsally from the cranial division of the internal carotid artery, then curves caudally along the dorsal medial wall of the eye capsule to drain into the PMBC just rostral to the midbrain hindbrain boundar[ZFIN:curator]y" xsd:string {source="ZFIN:curator"} [Term] id: UBERON:2001063 name: posterior caudal vein namespace: uberon xref: ZFA:0001063 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001638 ! vein property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2001073 name: axial vasculature namespace: uberon xref: ZFA:0001073 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0002049 ! vasculature property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2001076 name: intestinal bulb namespace: uberon def: "This anteriormost portion of the intestine has the most digestive enzymes and the greatest epithelial surface area. Wallace et al, 2005." [ZFIN:curator] synonym: "anterior intestine" EXACT [TAO:0001076] xref: ZFA:0001076 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000160 ! intestine property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2001089 name: myoseptum namespace: uberon xref: ZFA:0001089 is_a: EFO:0003331 ! zebrafish component property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2001118 name: urogenital papilla namespace: uberon def: "A protuberance in front of the gential pore and behind the vent. Mature females have a well developed urogenital papillae whilst in mature males it is poorly developed. Brion et al, 2004." [ZFIN:curator] synonym: "anal papilla" EXACT [TAO:0001118] synonym: "anal papillae" EXACT [TAO:0001118] synonym: "genital papilla" EXACT [TAO:0001118] synonym: "UGP" EXACT [TAO:0001118] synonym: "urogenital papillae" EXACT PLURAL [TAO:0001118] xref: ZFA:0001118 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000990 ! reproductive system property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2001129 name: pharyngeal pouches 2-6 namespace: uberon xref: ZFA:0001129 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0004117 ! pharyngeal pouch property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2001142 name: tooth 5V namespace: uberon def: "Ceratobranchial 5 tooth which is the posteriormost tooth in the ventral tooth row." [TAO:wd] xref: ZFA:0001142 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001091 ! calcareous tooth property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} property_value: UBPROP:0000112 "5" xsd:int [Term] id: UBERON:2001143 name: tooth 4V namespace: uberon def: "Ceratobranchial 5 tooth which is posterior to tooth 3V and anterior to tooth 5V in the ventral tooth row." [TAO:wd] xref: ZFA:0001143 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001091 ! calcareous tooth property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} property_value: UBPROP:0000112 "4" xsd:int [Term] id: UBERON:2001145 name: tooth 3V namespace: uberon def: "Ceratobranchial 5 tooth which is posterior to tooth 2V and anterior to tooth 4V in the ventral tooth row." [TAO:wd] xref: ZFA:0001145 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001091 ! calcareous tooth property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} property_value: UBPROP:0000112 "3" xsd:int [Term] id: UBERON:2001156 name: posterior lateral line placode namespace: uberon xref: ZFA:0001156 is_a: UBERON:0009955 ! neurogenic placode disjoint_from: UBERON:2001316 ! anterior lateral line placode relationship: part_of UBERON:2001471 ! posterior lateral line system property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2001157 name: posterior lateral line primordium namespace: uberon def: "A migrating group of cells originating from the posterior lateral line placode. The primordium deposits seven to nine neuromasts and interneuromasts between them during its posterior migration to the tail. Gompel et al, 2001." [ZFIN:curator] synonym: "posterior lateral line primordia" EXACT PLURAL [TAO:0001157] xref: ZFA:0001157 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0002540 ! lateral line system relationship: part_of UBERON:2001471 ! posterior lateral line system property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2001200 name: corpuscles of Stannius namespace: uberon def: "Islands of eosinic cells found on the lateroventral surface of the kidney. Function is thought to be that of the parathyroid gland in other vertebrates, which are lacking in fishes. These cells secrete hypocalcin (teleocalcin) to regulate calcium metabolism." [ZFIN:curator] xref: ZFA:0001200 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0002368 ! endocrine gland relationship: part_of UBERON:0000080 ! mesonephros relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000916 ! abdomen relationship: part_of UBERON:0002100 ! trunk property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2001256 name: lateral floor plate namespace: uberon xref: ZFA:0001256 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0003079 ! floor plate property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2001263 name: ovarian follicle stage I namespace: uberon def: "Stage I follicles (less than 140 microns) are primary growth stage. Selman et al, 1993." [ZFIN:curator] synonym: "previtillogenic ovarian follicle" EXACT [TAO:0001263] xref: ZFA:0001263 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000990 ! reproductive system relationship: part_of UBERON:0000992 ! ovary property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2001265 name: ovarian follicle stage II namespace: uberon def: "Stage II follicles (140-340 microns) are cortical alveolus stage. Selman et al, 1993." [ZFIN:curator] xref: ZFA:0001265 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000990 ! reproductive system relationship: part_of UBERON:0000992 ! ovary property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2001266 name: ovarian follicle stage III namespace: uberon def: "Stage III (340-690 microns) are vitellogenesis. Selman et al, 1993." [ZFIN:curator] xref: ZFA:0001266 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000990 ! reproductive system relationship: part_of UBERON:0000992 ! ovary property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2001279 name: branchiostegal ray 1 namespace: uberon def: "Branchiostegal ray that is the anterior-most ray in the adult." [ZFIN:curator] xref: ZFA:0001279 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001474 ! bone element relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001434 ! skeletal system relationship: part_of UBERON:0011153 ! ventral hyoid arch skeleton property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2001280 name: branchiostegal ray 3 namespace: uberon def: "Branchiostegal ray that is the third anterior-most ray in the adult." [ZFIN:curator] xref: ZFA:0001280 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001474 ! bone element relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001434 ! skeletal system relationship: part_of UBERON:0011153 ! ventral hyoid arch skeleton property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2001281 name: branchiostegal ray 2 namespace: uberon def: "Branchiostegal ray that is the second anterior-most ray in the adult." [ZFIN:curator] xref: ZFA:0001281 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001474 ! bone element relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0001434 ! skeletal system relationship: part_of UBERON:0011153 ! ventral hyoid arch skeleton property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2001286 name: caudal vein plexus namespace: uberon xref: ZFA:0001286 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0002049 ! vasculature property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2001297 name: vagal placode 1 namespace: uberon xref: ZFA:0001297 is_a: UBERON:0003078 ! epibranchial placode property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2001298 name: vagal placode 2 namespace: uberon xref: ZFA:0001298 is_a: UBERON:0003078 ! epibranchial placode property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2001299 name: vagal placode 3 namespace: uberon xref: ZFA:0001299 is_a: UBERON:0003078 ! epibranchial placode property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2001300 name: vagal placode 4 namespace: uberon xref: ZFA:0001300 is_a: UBERON:0003078 ! epibranchial placode property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2001302 name: vagal ganglion 1 namespace: uberon synonym: "gX1" EXACT [TAO:0001302] synonym: "nodose ganglion 1" EXACT [TAO:0001302] xref: ZFA:0001302 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001714 ! cranial ganglion property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2001303 name: vagal ganglion 2 namespace: uberon synonym: "gX2" EXACT [TAO:0001303] synonym: "nodose ganglion 2" EXACT [TAO:0001303] xref: ZFA:0001303 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001714 ! cranial ganglion property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2001304 name: vagal ganglion 3 namespace: uberon synonym: "gX3" EXACT [TAO:0001304] synonym: "nodose ganglion 3" EXACT [TAO:0001304] xref: ZFA:0001304 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001714 ! cranial ganglion property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2001305 name: vagal ganglion 4 namespace: uberon synonym: "gX4" EXACT [TAO:0001305] synonym: "nodose ganglion 4" EXACT [TAO:0001305] xref: ZFA:0001305 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001714 ! cranial ganglion property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2001312 name: dorsal anterior lateral line ganglion namespace: uberon subset: efo_slim synonym: "anterodorsal lateral line ganglion" EXACT [TAO:0001312] xref: EFO:0003674 xref: TAO:0001312 xref: ZFA:0001312 is_a: UBERON:2001391 ! anterior lateral line ganglion [Term] id: UBERON:2001313 name: ventral anterior lateral line ganglion namespace: uberon synonym: "anteroventral lateral line ganglion" EXACT [TAO:0001313] xref: ZFA:0001313 is_a: UBERON:2001391 ! anterior lateral line ganglion property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2001314 name: posterior lateral line ganglion namespace: uberon def: "The posterior lateral line ganglion develops from a cranial ectodermal placode and contains sensory neurons that innervate the posterior lateral line system." [ZFIN:curator] xref: ZFA:0001314 is_a: UBERON:2000120 ! lateral line ganglion disjoint_from: UBERON:2001391 ! anterior lateral line ganglion property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2001316 name: anterior lateral line placode namespace: uberon def: "Dorsolateral placode that gives rise to the anterior lateral line." [ZFA:0001316, ZFA:curator] subset: efo_slim synonym: "anterior lateral line placodes" RELATED PLURAL [ZFA:0001316] synonym: "pre-auditory lateral line placode" RELATED [XAO:0004221] xref: EFO:0003461 xref: TAO:0001316 xref: XAO:0004221 xref: ZFA:0001316 is_a: UBERON:0009955 ! neurogenic placode relationship: part_of UBERON:2001468 ! anterior lateral line system property_value: external_definition "Lateral line placode that gives rise to the anterior lateral line nerve[XAO:0004221, XAO:EJS]." xsd:string {source="XAO:EJS"} [Term] id: UBERON:2001378 name: axial hypoblast namespace: uberon xref: ZFA:0001378 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000089 ! hypoblast (generic) relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0002050 ! embryonic structure property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2001391 name: anterior lateral line ganglion namespace: uberon def: "The anteror lateral line ganglia develops from cranial ectodermal placodes and contain sensory neurons that innervate the anterior lateral line system." [ZFIN:curator] subset: efo_slim synonym: "anterior lateral line ganglia" RELATED PLURAL [TAO:0001391] xref: EFO:0003683 xref: TAO:0001391 xref: ZFA:0001391 is_a: UBERON:2000120 ! lateral line ganglion intersection_of: UBERON:2000120 ! lateral line ganglion intersection_of: part_of UBERON:2001468 ! anterior lateral line system relationship: part_of UBERON:2001468 ! anterior lateral line system [Term] id: UBERON:2001431 name: primitive olfactory epithelium namespace: uberon xref: ZFA:0001431 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0000483 ! epithelium relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0003050 ! olfactory placode property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2001468 name: anterior lateral line system namespace: uberon def: "The anterior lateral line system develops from cranial ectodermal placodes, situated between the eye and the ear, that give rise to both the neuromasts and the anterior lateral line sensory nerves that innervate the neuromasts. The anterior lateral line system consists of small sensory patches (neuromasts) located superficially on the skin or just under the skin in fluid-filled canals on the head of all fishes and most amphibians and are innervated by several lateral line nerves, which project to the hindbrain. The anterior lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance." [ZFIN:curator] subset: efo_slim xref: EFO:0003691 xref: TAO:0001468 xref: ZFA:0001468 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0002540 ! lateral line system disjoint_from: UBERON:2001471 ! posterior lateral line system [Term] id: UBERON:2001471 name: posterior lateral line system namespace: uberon def: "The posterior lateral line system develops from cranial ectodermal placodes, situated behind the ear, that give rise to both the neuromasts and the posterior lateral line sensory nerves that innervate the neuromasts. The posterior lateral line system consists of small sensory patches (neuromasts) located superficially on the skin or just under the skin in fluid-filled canals on the head of all fishes and most amphibians. The neuromasts are innervated by several lateral line nerves, which project primarily to the hindbrain. The posterior mechanosensory lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance." [ZFIN:curator] xref: ZFA:0001471 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0002540 ! lateral line system property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2005010 name: mid cerebral vein namespace: uberon def: "The mesencephalic veins (MsV) enter the mid cerebral veins (MCeV) at the dorsal midline. THe MCeVs originate at the dorsal midline, proceede lateraly in a ventral direction to drain into the paired primordial midbrain channels (PHBC). ogai et al. 2001., Kimmel et al. 1993." [ZFIN:curator] synonym: "MCeV" EXACT [TAO:0005010] synonym: "mid-cerebral vein" EXACT [TAO:0005010] synonym: "middle cerebral vein" EXACT [TAO:0005010] xref: ZFA:0005010 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001638 ! vein relationship: part_of UBERON:0000033 ! head relationship: part_of UBERON:0002200 ! vasculature of head property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2005017 name: primordial midbrain channel namespace: uberon def: "The vessel between the anterior cerebral vein and the mid cerebral vein. Isogai et al. 2001." [ZFIN:curator] synonym: "PMBC" EXACT [TAO:0005017] xref: ZFA:0005017 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001638 ! vein relationship: part_of UBERON:0000033 ! head relationship: part_of UBERON:0002200 ! vasculature of head property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2005025 name: dorsal longitudinal anastomotic vessel namespace: uberon def: "Trunk vessel that connects to the primitive hindbrain channel and the basilar artery at the caudal end of the medulla oblongata. Isogai et al. 2001." [ZFIN:curator] synonym: "DLAV" EXACT [TAO:0005025] xref: ZFA:0005025 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001981 ! blood vessel relationship: part_of UBERON:0002100 ! trunk property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2005029 name: rostral blood island namespace: uberon def: "Hematopoietic tissue derived from the cephalic mesoderm. Predominantly produces myeloid cells. de Jong and Zon 2005." [ZFIN:curator] synonym: "RBI" EXACT [TAO:0005029] xref: ZFA:0005029 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0002390 ! hematopoietic system property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2005034 name: parachordal vessel namespace: uberon def: "Vessels run longitudinally along the horizontal myoseptum. These vessels are not functional until after lumenization which occurs near 4 dpf. Isogai et al. 2003." [ZFIN:curator] synonym: "PAV" EXACT [TAO:0005034] xref: ZFA:0005034 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0001638 ! vein relationship: part_of UBERON:0002100 ! trunk property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2005039 name: anterior lateral mesoderm namespace: uberon xref: ZFA:0005039 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0002050 ! embryonic structure property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2005073 name: atrioventricular ring namespace: uberon synonym: "AV ring" EXACT [TAO:0005073] xref: ZFA:0005073 is_a: EFO:0001955 ! heart component is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0002081 ! cardiac atrium relationship: part_of UBERON:0002082 ! cardiac ventricle relationship: part_of UBERON:0002165 ! endocardium property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2005093 name: nasal vein namespace: uberon synonym: "NV" EXACT ABBREVIATION [TAO:0005093] xref: ZFA:0005093 is_a: UBERON:0001638 ! vein relationship: part_of UBERON:0000033 ! head relationship: part_of UBERON:0002200 ! vasculature of head property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2005103 name: presumptive ventral fin fold namespace: uberon synonym: "presumptive ventral fin-fold" EXACT [TAO:0005103] xref: ZFA:0005103 is_a: EFO:0003332 ! zebrafish embryonic structure is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:2005117 name: anterior lateral line primordium namespace: uberon def: "A migrating group of cells originating from an anterior lateral line placode. The primordium deposits neuromasts and interneuromasts between them during its migration." [ZFIN:curator] synonym: "anterior lateral line primordia" EXACT PLURAL [TAO:0005117] xref: ZFA:0005117 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0002540 ! lateral line system relationship: part_of UBERON:2001468 ! anterior lateral line system property_value: UBPROP:0000004 "This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/tao.owl"} [Term] id: UBERON:3010740 name: ramus auricularis of the vagus nerve namespace: uberon def: "An afferent branch of the vagus nerve." [AAO:EJS] is_a: UBERON:0001759 ! vagus nerve property_value: UBPROP:0000004 "This class was sourced from an external ontology (amphibian_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/aao.owl"} [Term] id: UBERON:4000163 name: anal fin namespace: uberon def: "Median fin that is located posterior to the anus." [TAO:curator] synonym: "nageoire anale" EXACT [PSPUB:0000164] synonym: "proctoptère" EXACT [PSPUB:0000136] synonym: "proctoptérygie" EXACT [PAPUB:0000142, PSPUB:0000140] xref: ZFA:0001162 is_a: EFO:0003331 ! zebrafish component is_a: UBERON:0008897 ! fin property_value: UBPROP:0000004 "This class was sourced from an external ontology (vertebrate_skeletal_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/vsao.owl"} [Term] id: UBERON:4000164 name: caudal fin namespace: uberon def: "The caudal fin is the most posterior median fin. It is composed of a complex of modified centra and modified neural and hemal arches and spines." [Phenoscape:PM] synonym: "nageoire caudale" EXACT [PSPUB:0000164] synonym: "tail" RELATED [VSAO:0000164] synonym: "tail fin" RELATED [VSAO:0000164] synonym: "uroptère" EXACT [PSPUB:0000135] synonym: "uroptérygie" EXACT [PSPUB:0000140] xref: ZFA:0001058 is_a: UBERON:0008897 ! fin property_value: UBPROP:0000004 "This class was sourced from an external ontology (vertebrate_skeletal_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/vsao.owl"} [Term] id: UBERON:4000170 name: median fin skeleton namespace: uberon def: "Postcranial axial skeleton that is unpaired and located on the sagittal plane of the organism." [TAO:curator] synonym: "axial fin skeleton" EXACT [VSAO:0000170] synonym: "unpaired fin skeleton" EXACT [VSAO:0000170] xref: ZFA:0001123 is_a: EFO:0003858 ! skeleton structure relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0004288 ! skeleton relationship: part_of UBERON:0008897 ! fin property_value: UBPROP:0000004 "This class was sourced from an external ontology (vertebrate_skeletal_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon" xsd:string {source="http://purl.obolibrary.org/obo/vsao.owl"} [Term] id: UBERON:4200173 name: dorsal ridge namespace: uberon is_a: EFO:0000795 ! animal developmental tissue is_a: EFO:0003858 ! skeleton structure relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000976 ! humerus [Term] id: UBERON:6000186 name: insect embryonic optic lobe primordium namespace: uberon def: "." [FBC:DOS, FBC:VH] synonym: "optic lobe placode" RELATED [] synonym: "optic lobe primordium" RELATED [] xref: FBbt:00000186 is_a: EFO:0003333 ! Drosophila developmental tissue is_a: UBERON:0001048 ! primordium [Term] id: UBERON:6001059 name: insect visual primordium namespace: uberon synonym: "optic lobe placode" RELATED [] synonym: "optic lobe primordium" RELATED [] synonym: "P2 VisSys" RELATED [FBC:DOS] xref: FBbt:00001059 is_a: EFO:0003335 ! Drosophila embryonic structure is_a: UBERON:0001048 ! primordium is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo [Term] id: UBERON:6001060 name: insect embryonic brain namespace: uberon def: "Brain of the embryo." [FBC:SPR] xref: FBbt:00001060 is_a: UBERON:0000955 ! brain [Term] id: UBERON:6001722 name: insect ring gland namespace: uberon def: "A closely associated cluster of three neuroendocrine glands located anterior to the aorta and dorsal to the esophagus. At embryonic stage 17 and in larva it is found anterior to the brain and is formed by the corpus cardiacum ventrally, the prothoracic gland laterally and the corpus allatum dorsally. The adult ring gland is located anterior to the proventriculus and is formed by the corpus cardiacum ventrally, the corpus allatum dorsally and the hypocerebral ganglion posterior to the corpus cardiacum. It is innervated by neurons of the nervus corporis cardiaci (NccI-III)." [FlyBase:FBrf0064803, FlyBase:FBrf0089570, FlyBase:FBrf0179777, PMID:12966498] xref: FBbt:00001722 is_a: EFO:0003334 ! Drosophila component [Term] id: UBERON:6001734 name: insect larval labral segment namespace: uberon def: "Any labral segment (UBERON:6000008) that is part of some larval head (UBERON:6001730)." [FBC:auto_generated_definition] xref: FBbt:00001734 is_a: EFO:0003334 ! Drosophila component is_a: UBERON:0000914 ! organismal segment relationship: part_of UBERON:0000033 ! head [Term] id: UBERON:6001767 name: insect antennal disc namespace: uberon def: "Posterior portion of the eye-antennal disc. It gives rise to the adult antennal segments and the maxillary palp, as well as contributing to the head capsule." [FlyBase:FBrf0064789] xref: FBbt:00001767 is_a: UBERON:0000061 ! anatomical structure [Term] id: UBERON:6001778 name: insect wing disc namespace: uberon def: "Dorsal imaginal disc of the mesothorax. Precursor of dorsal mesothoracic structures of the adult including the postnotum, scutum, scutellum, wing, wing hinge and part of the notal pleura." [FlyBase:FBrf0064789] synonym: "dorsal mesothoracic disc" EXACT [] xref: FBbt:00001778 is_a: UBERON:0000061 ! anatomical structure [Term] id: UBERON:6001779 name: insect haltere disc namespace: uberon def: "Dorsal imaginal disc of the metathorax. Precursor of structure of the adult dorsal metathorax including the haltere." [FlyBase:FBrf0064789] synonym: "dorsal metathoracic disc" EXACT [] xref: FBbt:00001779 is_a: EFO:0000795 ! animal developmental tissue [Term] id: UBERON:6001780 name: insect ventral thoracic disc namespace: uberon def: "Imaginal disc that is a precursor of ventral thoracic structures of the adult." [FlyBase:FBrf0064789, FlyBase:FBrf0064803] synonym: "leg disc" RELATED [] synonym: "ventral thoracic disk" EXACT [] xref: FBbt:00001780 is_a: EFO:0003333 ! Drosophila developmental tissue [Term] id: UBERON:6001791 name: obsolete insect dorsal histoblast nest abdominal namespace: uberon comment: Obsoleted as this level of precision is deemed unnecessary in Uberon. Consider using either 'insect histoblast nest' (UBERON:6001790) or a more precise term from a taxon-specific ontology such as FBbt. property_value: IAO:0000233 https://github.com/obophenotype/uberon/issues/2867 xsd:anyURI is_obsolete: true consider: UBERON:6001790 [Term] id: UBERON:6003559 name: insect adult nervous system namespace: uberon def: "." [FlyBase:FBrf0002482, FlyBase:FBrf0007196, FlyBase:FBrf0007735, FlyBase:FBrf0034076] xref: FBbt:00003559 is_a: UBERON:0001016 ! nervous system [Term] id: UBERON:6005037 name: insect tracheal primordium namespace: uberon def: "Primordium of a single tracheal metamere of the embryonic/larval tracheal system from its appearance as a placode during stage 11 to the completion of fusion with adjacent tracheal metameres in stage 15/16. There are 10 pairs of tracheal primordia - one pair in each segment from T2 to A8. Each tracheal primordium originates as a slight depression in the lateral ectoderm during stage 10 known as a tracheal placode. During stage 11, these placodes invaginate to form tracheal pits that elongate and branch. These pits close over during stage 13. Fusion of tracheal primordia begins at stage 14 with fusion of the dorsal trunk primordia and is complete by early stage 16." [FlyBase:FBrf0089570] synonym: "P2 TrachP" EXACT [FBC:DOS] synonym: "tracheal placode" RELATED [] synonym: "TrachP3" RELATED [] xref: FBbt:00005037 is_a: EFO:0003333 ! Drosophila developmental tissue is_a: UBERON:0001048 ! primordium is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo [Term] id: UBERON:6005054 name: insect spiracle namespace: uberon def: "Opening of the tracheal system on the surface of the body." [FlyBase:FBrf0166419] xref: FBbt:00005054 is_a: UBERON:0000061 ! anatomical structure relationship: part_of UBERON:0000467 ! anatomical system relationship: part_of UBERON:0002416 ! integumental system [Term] id: UBERON:6005413 name: insect anlage in statu nascendi namespace: uberon def: "'anlagen in statu nascendi' are domains that do not yet coincide 1:1 with a later organ. Anlagen in statu nascendi are typically defined for the early blastoderm by the expression domains of genes which, in the late blastoderm or later, are expressed in specific anlagen, but initially come on in larger domains." [FlyBase:FBrf0178740] synonym: "A0" RELATED [] xref: FBbt:00005413 is_a: EFO:0000795 ! animal developmental tissue is_a: UBERON:0002050 ! embryonic structure [Term] id: UBERON:6005425 name: obsolete insect visual anlage in statu nascendi namespace: uberon comment: No need for such a specific term in Uberon. See https://github.com/obophenotype/uberon/issues/2154. is_obsolete: true [Term] id: UBERON:6005434 name: insect visual anlage namespace: uberon synonym: "A VisSys" RELATED [FBC:DOS] synonym: "AVis" RELATED [] xref: FBbt:00005434 is_a: EFO:0003333 ! Drosophila developmental tissue is_a: UBERON:0002050 ! embryonic structure is_a: UBERON:0007688 ! anlage relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0002050 ! embryonic structure [Term] id: UBERON:6005436 name: insect trunk mesoderm anlage namespace: uberon synonym: "Asn/A TrMes" RELATED [FBC:DOS] xref: FBbt:00005436 is_a: EFO:0003334 ! Drosophila component is_a: UBERON:0002050 ! embryonic structure is_a: UBERON:0007688 ! anlage relationship: part_of UBERON:0000468 ! multicellular organism relationship: part_of UBERON:0000922 ! embryo relationship: part_of UBERON:0002050 ! embryonic structure [Term] id: UBERON:6005526 name: insect dorsal epidermis primordium namespace: uberon synonym: "dorEpiP2" RELATED [] synonym: "dorsal epidermis specific anlage" RELATED [] xref: FBbt:00005526 is_a: EFO:0000795 ! animal developmental tissue is_a: UBERON:0001048 ! primordium is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo [Term] id: UBERON:6005533 name: insect ventral epidermis primordium namespace: uberon synonym: "P2 iVenEp" RELATED [FBC:DOS] synonym: "venEpiP2" RELATED [] xref: FBbt:00005533 is_a: EFO:0003335 ! Drosophila embryonic structure is_a: UBERON:0001048 ! primordium is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo [Term] id: UBERON:6005538 name: insect clypeo-labral primordium namespace: uberon synonym: "ClyP2" RELATED [] xref: FBbt:00005538 is_a: EFO:0000795 ! animal developmental tissue is_a: UBERON:0001048 ! primordium is_a: UBERON:0002050 ! embryonic structure relationship: part_of UBERON:0000922 ! embryo [Term] id: UBERON:6005831 name: insect dorsal imaginal precursor namespace: uberon xref: FBbt:00005831 is_a: EFO:0000795 ! animal developmental tissue [Term] id: UBERON:6007435 name: obsolete endocrine system component namespace: uberon synonym: "endocrine organ" RELATED [] is_obsolete: true consider: FBbt:00007435 [Term] id: UO:0000000 name: unit def: "A unit of measurement is a standardized quantity of a physical quality." [] xref: MO:3 xref: NCIt:C44278 xref: NCIt:C68553 xref: NIFSTD:birnlex_2015 xref: SNOMEDCT:258666001 is_a: IAO:0000030 ! information entity property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001446 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: UO:0000001 name: length unit def: "A base unit which is a standard measure of the distance between two points." [] def: "A length unit is a base unit which is a standard measure of the distance between two points." [] def: "A unit which is a standard measure of the distance between two points." [] synonym: "DistanceUnit" EXACT [] is_a: UO:0000045 ! base unit property_value: definition:citation "UO_0000001" xsd:string property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001678 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jon Ison" xsd:string [Term] id: UO:0000002 name: mass unit def: "A base unit which is a standard measure of the amount of matter/energy of a physical object." [] def: "A mass unit is a base unit which is a standard measure of the amount of matter/energy of a physical object." [] def: "A unit which is a standard measure of the amount of matter/energy of a physical object." [] synonym: "MassUnit" EXACT [] synonym: "MassUnitOther" EXACT [] xref: MO:11 xref: MO:149 is_a: UO:0000045 ! base unit property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001679 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: UO:0000003 name: time unit def: "A base unit which is a standard measure of the dimension in which events occur in sequence." [] def: "A time unit is a base unit which is a standard measure of the dimension in which events occur in sequence." [] def: "A unit which is a standard measure of the dimension in which events occur in sequence." [] synonym: "TimeUnit" EXACT [] synonym: "TimeUnitOther" EXACT [] xref: MO:103 xref: MO:166 is_a: UO:0000045 ! base unit property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001680 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: UO:0000004 name: electric current unit def: "A base unit which is a standard measure of the flow of electric charge." [] def: "A unit which is a standard measure of the flow of electric charge." [] def: "An electric current unit is a base unit which is a standard measure of the flow of electric charge." [] is_a: UO:0000045 ! base unit property_value: definition:citation "UO_0000004" xsd:string property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001681 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: UO:0000005 name: temperature unit def: "A base unit which is a standard measure of the average kinetic energy of the particles in a sample of matter." [] def: "A temperature unit is a base unit which is a standard measure of the average kinetic energy of the particles in a sample of matter." [] def: "A unit which is a standard measure of the average kinetic energy of the particles in a sample of matter." [] synonym: "TemperatureUnit" EXACT [] xref: MO:48 is_a: UO:0000045 ! base unit relationship: EFO:0001697 EFO:0001702 ! is_unit_of temperature property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001682 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: UO:0000006 name: substance unit def: "A base unit which is a standardized quantity of an element or compound with uniform composition." [] def: "A substance unit is a base unit which is a standardised quantity of an element or compound with uniform composition." [] def: "A unit which is a standardised quantity of an element or compound with uniform composition." [] is_a: UO:0000045 ! base unit property_value: definition:citation "UO_0000006" xsd:string property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001683 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: UO:0000007 name: luminous intensity unit def: "A base unit which is a standard measure of the wavelength-weighted power emitted by a light source in a particular direction." [] def: "A luminous intensity unit is a base unit which is a standard measure of the wavelength-weighted power emitted by a light source in a particular direction." [] def: "A unit which is a standard measure of the wavelength-weighted power emitted by a light source in a particular direction." [] is_a: UO:0000045 ! base unit property_value: definition:citation "UO_0000007" xsd:string property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001684 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: UO:0000008 name: meter def: "A length unit which is equal to the length of the path traveled by light in vacuum during a time interval of 1/299 792 458 of a second." [] def: "A meter is a length unit which is equal to the length of the path traveled by light in vacuum during a time interval of 1/299 792 458 of a second." [] synonym: "m" EXACT [] synonym: "metre" EXACT [] xref: MO:367 xref: NCIt:C41139 xref: SNOMEDCT:258669008 is_a: UO:0000001 ! length unit property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001685 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Jon Ison" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: UO:0000009 name: kilogram def: "A kilogram is a mass unit which is equal to the mass of the International Prototype Kilogram kept by the BIPM at Svres, France." [] def: "A mass unit which is equal to the mass of the International Prototype Kilogram kept by the BIPM at Svres, France." [] synonym: "kg" EXACT [] xref: MO:846 xref: NCIt:C28252 xref: SNOMEDCT:258683005 is_a: UO:0000002 ! mass unit property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001686 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Jon Ison" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: UO:0000010 name: second def: "A second is a time unit which is equal to the duration of 9 192 631 770 periods of the radiation corresponding to the transition between the two hyperfine levels of the ground state of the caesium 133 atom." [] def: "A time unit which is equal to the duration of 9 192 631 770 periods of the radiation corresponding to the transition between the two hyperfine levels of the ground state of the caesium 133 atom." [] synonym: "s" EXACT [] xref: NCIt:C25666 xref: NCIt:C42535 xref: NCIt:C49463 xref: SNOMEDCT:81170007 is_a: UO:0000003 ! time unit property_value: definition:citation "UO_0000010" xsd:string property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001687 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: UO:0000011 name: ampere def: "An ampere is an electric current unit which is equal to the constant current which, if maintained in two straight parallel conductors of infinite length, of negligible circular cross-section, and placed 1 m apart in vacuum, would produce between these conductors a force equal to 2 x 10^[-7] newton per meter of length." [] def: "An electric current unit which is equal to the constant current which, if maintained in two straight parallel conductors of infinite length, of negligible circular cross-section, and placed 1 m apart in vacuum, would produce between these conductors a force equal to 2 x 10^[-7] newton per meter of length." [] synonym: "A" EXACT [] xref: NCIt:C42536 xref: SNOMEDCT:420512001 xref: SNOMEDCT:421426001 xref: SNOMEDCT:422097006 is_a: UO:0000004 ! electric current unit property_value: definition:citation "UO_0000011" xsd:string property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001688 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: UO:0000012 name: kelvin def: "A kelvin is a thermodynamic temperature unit which is equal to the fraction 1/273.16 of the thermodynamic temperature of the triple point of water." [] def: "A thermodynamic temperature unit which is equal to the fraction 1/273.16 of the thermodynamic temperature of the triple point of water." [] synonym: "K" EXACT [] xref: MO:614 xref: NCIt:C42537 xref: SNOMEDCT:257968004 xref: SNOMEDCT:257991000 is_a: UO:0000005 ! temperature unit property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001689 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: UO:0000013 name: mole def: "A mole is a substance unit which is equal to the amount of substance of a molecular system which contains as many elementary entities as there are atoms in 0.012 kilogram of carbon 12." [] def: "A substance unit which is equal to the amount of substance of a molecular system which contains as many elementary entities as there are atoms in 0.012 kilogram of carbon 12." [] synonym: "mol" EXACT [] xref: MO:998 xref: NCIt:C42539 xref: SNOMEDCT:258717005 is_a: UO:0000006 ! substance unit property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001690 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Jon Ison" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: UO:0000014 name: candela def: "A candela is a luminous intensity unit which equal to the luminous intensity, in a given direction, of a source that emits monochromatic radiation of frequency 540 x 1012 hertz and that has a radiant intensity in that direction of 1/683 watt per steradian." [] def: "A luminous intensity unit which equal to the luminous intensity, in a given direction, of a source that emits monochromatic radiation of frequency 540 x 1012 hertz and that has a radiant intensity in that direction of 1/683 watt per steradian." [] synonym: "cd" EXACT [] xref: MO:572 xref: NCIt:C42538 xref: SNOMEDCT:282254003 is_a: UO:0000007 ! luminous intensity unit property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001691 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Jon Ison" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: UO:0000015 name: centimeter def: "A centimeter is a length unit which is equal to one hundredth of a meter or 10^-2 m." [] def: "A length unit which is equal to one hundredth of a meter or 10^[-2] m." [] synonym: "centimetre" EXACT [] synonym: "cm" EXACT [] xref: MO:837 xref: NCIt:C49668 xref: SNOMEDCT:258672001 is_a: UO:0000001 ! length unit property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001720 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Jon Ison" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: UO:0000016 name: millimeter def: "A length unit which is equal to one thousandth of a meter or 10^[-3] m." [] def: "A millimeter is a length unit which is equal to one thousandth of a meter or 10^-3 m." [] synonym: "millimetre" EXACT [] synonym: "mm" EXACT [] xref: MO:648 xref: NCIt:C28251 xref: SNOMEDCT:258673006 is_a: UO:0000001 ! length unit property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0004361 xsd:string property_value: IAO:0000117 "Jon Ison" xsd:string [Term] id: UO:0000017 name: micrometer def: "A length unit which is equal to one millionth of a meter or 10^[-6] m." [] def: "A micrometer is a length unit which is equal to 1m x 10^-6." [] synonym: "micrometre" EXACT [] synonym: "micron" EXACT [] synonym: "um" EXACT [] synonym: "µm" EXACT [] xref: MO:421 xref: NCIt:C48510 xref: SNOMEDCT:258674000 is_a: UO:0000001 ! length unit property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001724 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Jon Ison" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: UO:0000018 name: nanometer def: "A length unit which is equal to one thousandth of one millionth of a meter or 10^[-9] m." [] def: "A nanometer is a length unit which is equal to 1m x 10^-9." [] synonym: "nanometre" EXACT [] synonym: "nm" EXACT [] xref: NCIt:C67328 xref: SNOMEDCT:258675004 is_a: UO:0000001 ! length unit property_value: definition:citation "UO_0000018" xsd:string property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001723 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: UO:0000020 name: picometer def: "A length unit which is equal to 10^[-12] m." [] def: "A picometer is a length unit which is equal to 1m x 10^-12." [] synonym: "picometre" EXACT [] synonym: "pm" EXACT [] xref: NCIt:C69148 is_a: UO:0000001 ! length unit property_value: definition:citation "UO_0000020" xsd:string property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001722 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: UO:0000021 name: gram def: "A gram is a mass unit which is equal to one-thousanth of a kilogram." [] def: "A mass unit which is equal to one thousandth of a kilogram or 10^[-3] kg." [] synonym: "g" EXACT [] xref: MO:825 xref: NCIt:C48155 xref: SNOMEDCT:258682000 is_a: UO:0000002 ! mass unit property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001705 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Jon Ison" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: UO:0000022 name: milligram def: "A mass unit which is equal to one thousandth of a gram or 10^[-3] g." [] def: "A milligram is a mass unit which is equal to one-millionth of a kilogram." [] synonym: "mg" EXACT [] xref: MO:949 xref: NCIt:C28253 xref: SNOMEDCT:258684004 is_a: UO:0000002 ! mass unit property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001706 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Jon Ison" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: UO:0000023 name: microgram def: "A mass unit which is equal to one millionth of a gram or 10^[-6] g." [] def: "A microgram is a mass unit which is equal to 1 gram x 10^-6" [] synonym: "ug" EXACT [] synonym: "µg" EXACT [] xref: MO:438 xref: NCIt:C48152 xref: SNOMEDCT:258685003 is_a: UO:0000002 ! mass unit property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001707 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Jon Ison" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: UO:0000024 name: nanogram def: "A mass unit which is equal to one thousandth of one millionth of a gram or 10^[-9] g." [] def: "A microgram is a mass unit which is equal to 1 gram x 10^-9" [] synonym: "ng" EXACT [] xref: MO:796 xref: NCIt:C48516 xref: SNOMEDCT:258686002 is_a: UO:0000002 ! mass unit property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001708 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Jon Ison" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: UO:0000025 name: picogram def: "A mass unit which is equal to one millionth of one millionth of a gram." [] def: "A picogram is a mass unit which is equal to 1 gram x 10^-12" [] synonym: "pg" EXACT [] xref: MO:363 xref: NCIt:C64551 xref: SNOMEDCT:258687006 is_a: UO:0000002 ! mass unit property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0004360 xsd:string property_value: IAO:0000117 "Jon Ison" xsd:string [Term] id: UO:0000026 name: femtogram def: "A mass unit which is equal to 10^[-15] g." [] def: "A microgram is a mass unit which is equal to 1 gram x 10^-15" [] synonym: "fg" EXACT [] xref: NCIt:C64552 xref: SNOMEDCT:258688001 is_a: UO:0000002 ! mass unit property_value: definition:citation "UO_0000026" xsd:string property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001709 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: UO:0000027 name: degree celsius def: "A temperature derived unit which is equal to one Kelvin degree. However, they have their zeros at different points. The Centigrade scale has its zero at 273.15 K." [] def: "A temperature unit which is equal to one Kelvin degree. However, they have their zeros at different points. The Centigrade scale has its zero at 273.15 K." [] def: "Degree celsius is a temperature derived unit which is equal to one Kelvin degree. However, they have their zeros at different points. The Centigrade scale has its zero at 273.15 K." [] synonym: "C" EXACT [] synonym: "degree centigrade" EXACT [] synonym: "degrees_C" EXACT [] xref: MO:980 xref: NCIt:C42559 xref: SNOMEDCT:257962003 xref: SNOMEDCT:257984003 xref: SNOMEDCT:420453007 is_a: UO:0000126 ! derived temperature unit property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001700 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: UO:0000029 name: microsecond def: "A microsecond is a time unit which is equal to one millionth of a second or 10^-6 s." [] def: "A time unit which is equal to one millionth of a second or 10^[-6] s." [] synonym: "us" EXACT [] synonym: "µs" EXACT [] xref: MO:795 xref: NCIt:C69149 xref: SNOMEDCT:258698007 is_a: UO:0000003 ! time unit property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001792 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Jon Ison" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: UO:0000031 name: minute def: "A minute is a derived time unit which is equal to 60 seconds." [] def: "A time unit which is equal to 60 seconds." [] synonym: "min" EXACT [] xref: NCIt:C48154 xref: SNOMEDCT:356624006 is_a: UO:0000149 ! derived time unit property_value: definition:citation "UO_0000031" xsd:string property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001791 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: UO:0000032 name: hour def: "A time unit which is equal to 3600 seconds or 60 minutes." [] def: "An hour is a derived time unit which is equal to 3600 seconds or 60 minutes." [] synonym: "h" EXACT [] xref: NCIt:C25529 xref: SNOMEDCT:258702006 is_a: UO:0000149 ! derived time unit property_value: definition:citation "UO_0000032" xsd:string property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001790 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: UO:0000033 name: day def: "A day is a derived time unit which is equal to 24 hours." [] def: "A time unit which is equal to 24 hours." [] xref: NCIt:C25301 xref: SNOMEDCT:258703001 is_a: UO:0000149 ! derived time unit property_value: definition:citation "UO_0000033" xsd:string property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001789 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: UO:0000034 name: week def: "A time unit which is equal to 7 days." [] def: "A week is a derived time unit which is equal to 7 days." [] xref: NCIt:C29844 xref: SNOMEDCT:258705008 is_a: UO:0000149 ! derived time unit property_value: definition:citation "UO_0000034" xsd:string property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001788 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: UO:0000035 name: month def: "A month is a derived time unit which is approximately equal to the length of time of one of cycle of the moon's phases which in science is taken to be equal to 30 days. [ http://en.wikipedia.org/wiki/Wikipedia ]" [] xref: NCIt:C29846 xref: SNOMEDCT:258706009 xref: Wikipedia:Month is_a: UO:0000149 ! derived time unit property_value: definition:citation "UO_0000035" xsd:string property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001726 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: UO:0000036 name: year def: "A time unit which is equal to 12 months which is science is taken to be equal to 365.25 days." [] def: "A year is a derived time unit which is equal to 365.25 days." [] xref: NCIt:C29848 xref: SNOMEDCT:258707000 is_a: UO:0000149 ! derived time unit property_value: definition:citation "UO_0000036" xsd:string property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001725 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: UO:0000039 name: micromole def: "A substance unit equal to a millionth of a mol or 10^[-6] mol." [] synonym: "umol" EXACT [] synonym: "µmol" EXACT [] xref: MO:752 xref: NCIt:C48509 xref: SNOMEDCT:258719008 is_a: UO:0000006 ! substance unit property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001801 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Jon Ison" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: UO:0000040 name: millimole def: "A millimole is a substance unit equal to a thousandth of a mol or 10^[-3] mol." [] def: "A substance unit equal to a thousandth of a mol or 10^[-3] mol." [] synonym: "mmol" EXACT [] xref: NCIt:C48513 xref: SNOMEDCT:258718000 is_a: UO:0000006 ! substance unit property_value: definition:citation "UO_0000040" xsd:string property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001802 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: UO:0000041 name: nanomole def: "A nanomole is a substance unit equal to one thousandth of one millionth of a mole or 10^-9 mol." [] def: "A substance unit equal to one thousandth of one millionth of a mole or 10^[-9] mol." [] synonym: "nmol" EXACT [] xref: MO:743 xref: NCIt:C48517 xref: SNOMEDCT:258720002 is_a: UO:0000006 ! substance unit property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001800 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Jon Ison" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: UO:0000042 name: picomole def: "A picomole is a substance unit equal to 10^-12 mol." [] def: "A substance unit equal to 10^[-12] mol." [] synonym: "pmol" EXACT [] xref: MO:688 xref: NCIt:C65045 xref: SNOMEDCT:258721003 is_a: UO:0000006 ! substance unit property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001798 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Jon Ison" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: UO:0000043 name: femtomole def: "A femtomole is a substance unit equal to 10^-15 mol." [] def: "A substance unit equal to 10^[-15] mol." [] synonym: "fmol" EXACT [] xref: MO:689 xref: NCIt:C68854 xref: SNOMEDCT:258722005 is_a: UO:0000006 ! substance unit property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001797 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Jon Ison" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: UO:0000044 name: attomole def: "A substance unit equal to 10^[-18] mol." [] def: "An attomole is a substance unit equal to 10^-18 mol." [] synonym: "amol" EXACT [] xref: MO:977 xref: NCIt:C68855 xref: SNOMEDCT:258723000 is_a: UO:0000006 ! substance unit property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001793 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: UO:0000045 name: base unit def: "A base unit is a unit which is used to measure a paticular type which is independent from all other base units and from which all measures of that type can be derived, for example, a length base unit of the meter. This is akin to the SI base unit system." [] def: "A unit which is one of a particular measure to which all measures of that type can be related." [] is_a: UO:0000000 ! unit property_value: definition:citation "UO_0000045" xsd:string property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001677 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: UO:0000046 name: derived unit def: "A derived unit is a unit which is derived from base units." [] def: "A unit which is derived from base units." [] is_a: UO:0000000 ! unit property_value: definition:citation "UO_0000046" xsd:string property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001692 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: UO:0000047 name: area unit def: "A derived unit which is a standard measure of the amount of a 2-dimensional flat surface." [] def: "A unit which is a standard measure of the amount of a 2-dimensional flat surface." [] def: "An area unit is a derived unit which is a standard measure of the amount of a 2-dimensional flat surface." [] is_a: UO:0000046 ! derived unit relationship: EFO:0001697 EFO:0001696 ! is_unit_of area property_value: definition:citation "UO_0000047" xsd:string property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001693 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: UO:0000051 name: concentration unit def: "A concentration unit is a dervied unit which represents a standard measurement of how much of a given substance there is mixed with another substance." [] def: "A derived unit which represents a standard measurement of how much of a given substance there is mixed with another substance." [] def: "A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." [] synonym: "ConcentrationUnit" EXACT [] synonym: "ConcentrationUnitOther" EXACT [] xref: MO:61 xref: MO:86 is_a: UO:0000046 ! derived unit property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001803 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: UO:0000055 name: molar mass unit def: "A derived unit which is a standard measure of the mass of a homogeneous substance containing 6.02 x 1023 atoms or molecules." [] def: "A unit which is a standard measure of the mass of a homogeneous substance containing 6.02 x 1023 atoms or molecules." [] is_a: UO:0000046 ! derived unit [Term] id: UO:0000061 name: unit of molarity def: "A concentration unit which is a standard measure of the number of moles of a given substance per liter of solution." [] def: "A derived concentration unit which is a standard measure of the number of moles of a given substance per liter of solution." [] def: "A unit of molarity is a derived concentration unit which is a standard measure of the number of moles of a given substance per liter of solution." [] is_a: UO:0000051 ! concentration unit property_value: definition:citation "UO_0000061" xsd:string property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001804 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: UO:0000062 name: molar def: "A molar is a unit of molarity which expresses a concentration of 1 mole of solute per liter of solution (mol/L)." [] def: "A unit of concentration which expresses a concentration of 1 mole of solute per liter of solution (mol/L)." [] synonym: "M" EXACT [] xref: MeSH:D008963 xref: MO:936 xref: SNOMEDCT:257969007 xref: SNOMEDCT:421643008 xref: SNOMEDCT:422192003 is_a: UO:0000061 ! unit of molarity property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001805 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: UO:0000063 name: millimolar def: "A millimolar is a unit of molarity which is equal to one thousandth of a molar or 10^-3 M." [] def: "A unit of molarity which is equal to one thousandth of a molar or 10^[-3] M." [] synonym: "mM" EXACT [] xref: MO:509 xref: SNOMEDCT:258673006 is_a: UO:0000061 ! unit of molarity property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001806 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: UO:0000064 name: micromolar def: "A unit of molarity which is equal to one millionth of a molar or 10^[-6] M." [] synonym: "uM" EXACT [] synonym: "µM" EXACT [] xref: MO:740 xref: SNOMEDCT:258674000 is_a: UO:0000055 ! molar mass unit is_a: UO:0000061 ! unit of molarity equivalent_to: EFO:0002901 ! micromole per liter property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001811 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: UO:0000065 name: nanomolar def: "A unit of molarity which is equal to one thousandth of one millionth of a molar or 10^[-9] M." [] synonym: "nm" EXACT [] xref: MO:862 xref: SNOMEDCT:258675004 is_a: UO:0000061 ! unit of molarity property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001812 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: UO:0000066 name: picomolar def: "A unit of molarity which is equal to 10^[-12] M." [] synonym: "pM" EXACT [] xref: MO:628 is_a: UO:0000061 ! unit of molarity property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001813 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: UO:0000073 name: femtomolar def: "A unit of molarity which is equal to 10^[-15] M." [] synonym: "fM" EXACT [] xref: MO:898 is_a: UO:0000061 ! unit of molarity property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001814 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: UO:0000080 name: square meter def: "A square meter is an area unit which is equal to an area enclosed by a square with sides each 1 meter long." [] def: "An area unit which is equal to an area enclosed by a square with sides each 1 meter long." [] synonym: "m^[2]" EXACT [] synonym: "square metre" EXACT [] xref: NCIt:C42569 is_a: UO:0000047 ! area unit property_value: definition:citation "UO_0000080" xsd:string property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001694 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: UO:0000095 name: volume unit def: "A derived unit which is a standard measure of the amount of space occupied by any substance, whether solid, liquid, or gas." [] def: "A unit which is a standard measure of the amount of space occupied by any substance, whether solid, liquid, or gas." [] def: "A volume unit is a derived unit which is a standard measure of the amount of space occupied by any substance, whether solid, liquid, or gas." [] synonym: "VolumeUnit" EXACT [] synonym: "VolumeUnitOther" EXACT [] xref: MO:155 xref: MO:179 is_a: UO:0000046 ! derived unit relationship: EFO:0001697 EFO:0001715 ! is_unit_of volume property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001711 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: UO:0000097 name: cubic centimeter def: "A cubic centimeter is a volume unit which is equal to one millionth of a cubic meter or 10^[-9] m^[3], or to 1 ml." [] def: "A volume unit which is equal to one millionth of a cubic meter or 10^[-9] m^[3], or to 1 ml." [] synonym: "cc" EXACT [] synonym: "cm^3" EXACT [] xref: MO:834 is_a: UO:0000095 ! volume unit property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001714 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Jon Ison" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: UO:0000098 name: milliliter def: "A milliliter is a volume unit which is equal to one thousandth of a liter or 10^-3 L, or to 1 cubic centimeter." [] def: "A volume unit which is equal to one thousandth of a liter or 10^[-3] L, or to 1 cubic centimeter." [] synonym: "ml" EXACT [] xref: MO:488 xref: NCIt:C28254 xref: SNOMEDCT:258773002 is_a: UO:0000095 ! volume unit property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001712 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Jon Ison" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: UO:0000099 name: liter def: "A liter is a volume unit which is equal to one thousandth of a cubic meter or 10^-3 m^3, or to 1 decimeter." [] def: "A volume unit which is equal to one thousandth of a cubic meter or 10^[-3] m^[3], or to 1 decimeter." [] synonym: "l" EXACT [] xref: MO:444 xref: NCIt:C48505 xref: SNOMEDCT:258770004 xref: SNOMEDCT:420296000 xref: SNOMEDCT:420559008 xref: SNOMEDCT:420744004 is_a: UO:0000095 ! volume unit property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001713 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Jon Ison" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: UO:0000101 name: microliter def: "A microliter is a volume unit which is equal to one millionth of a liter or 10^-6 L." [] def: "A volume unit which is equal to one millionth of a liter or 10^[-6] L." [] synonym: "ul" EXACT [] synonym: "µl" EXACT [] xref: MO:926 xref: NCIt:C48153 xref: SNOMEDCT:258774008 is_a: UO:0000095 ! volume unit property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001717 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Jon Ison" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: UO:0000102 name: nanoliter def: "A nanoliter is a volume unit which is equal to one thousandth of one millionth of a liter or 10^-9 L." [] def: "A volume unit which is equal to one thousandth of one millionth of a liter or 10^[-9] L." [] synonym: "nl" EXACT [] xref: MO:754 xref: NCIt:C69188 xref: SNOMEDCT:282113003 is_a: UO:0000095 ! volume unit property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001704 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Jon Ison" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: UO:0000103 name: picoliter def: "A picoliter is a volume unit which is equal to 10^-12 L." [] def: "A volume unit which is equal to 10^[-12] L." [] synonym: "pl" EXACT [] xref: MO:905 xref: NCIt:C69189 xref: SNOMEDCT:282114009 is_a: UO:0000095 ! volume unit property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001718 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Jon Ison" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string property_value: organizational:class "true" xsd:string [Term] id: UO:0000104 name: femtoliter def: "A femtoliter is a volume unit which is equal to 10^-15 L." [] def: "A volume unit which is equal to 10^[-12] L." [] synonym: "fl" EXACT [] xref: MO:721 xref: NCIt:C64780 xref: SNOMEDCT:258775009 is_a: UO:0000095 ! volume unit property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001719 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Jon Ison" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: UO:0000109 name: pressure unit def: "A unit which is a standard measure of the force applied to a given area." [] is_a: UO:0000046 ! derived unit [Term] id: UO:0000115 name: illuminance unit def: "A unit which is a standard measure of the luminous flux incident on a unit area." [] is_a: UO:0000046 ! derived unit property_value: IAO:0000117 "george gkoutos" xsd:string [Term] id: UO:0000116 name: lux def: "An illuminance unit which is equal to the illuminance produced by 1 lumen evenly spread over an area 1 meter squared." [] xref: NCIt:C42561 xref: SNOMEDCT:282255002 is_a: UO:0000115 ! illuminance unit property_value: IAO:0000117 "george gkoutos" xsd:string [Term] id: UO:0000121 name: angle unit def: "A unit which is a standard measure of the figure or space formed by the junction of two lines or planes." [] is_a: UO:0000000 ! unit property_value: IAO:0000117 "George Gkoutos" xsd:string [Term] id: UO:0000126 name: derived temperature unit def: "A derived unit which represents a standard measurement of temperature in a particular temperature scale." [] def: "A dervied temperature unit is a derived unit which represents a standard measurement of temperature in a particular temperature scale." [] def: "A unit which is a standard measure of the average kinetic energy of the particles in a sample of matter." [] synonym: "temperature derived unit" EXACT [] is_a: UO:0000046 ! derived unit relationship: EFO:0001697 EFO:0001702 ! is_unit_of temperature property_value: definition:citation "UO_0000126" xsd:string property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001699 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: UO:0000127 name: radiation unit def: "A derived unit which is a standard measure of the amount of radiation emitted by a given radiation source as well as the amount of radiation absorbed or deposited in a specific material by a radiation source." [] def: "A unit which is a standard measure of the amount of radiation emitted by a given radiation source as well as the amount of radiation absorbed or deposited in a specific material by a radiation source." [] is_a: UO:0000046 ! derived unit [Term] id: UO:0000129 name: absorbed dose unit def: "A derived unit which is a standard measure of the energy imparted by ionizing radiation to unit mass of matter such as tissue." [] def: "A unit which is a standard measure of the energy imparted by ionizing radiation to unit mass of matter such as tissue." [] is_a: UO:0000127 ! radiation unit [Term] id: UO:0000134 name: Gray def: "An absorbed dose unit which is equal to the absorption of one joule of radiation energy by one kilogram of matter." [] synonym: "Gy" EXACT [] xref: NCIt:C18063 xref: NCIt:C48324 xref: SNOMEDCT:229029004 is_a: UO:0000129 ! absorbed dose unit [Term] id: UO:0000135 name: rad def: "An absorbed dose unit which is equal to 0.01 gray (Gy)." [] xref: NCIt:C18064 xref: SNOMEDCT:229040007 is_a: UO:0000127 ! radiation unit property_value: IAO:0000117 "george gkoutos" xsd:string [Term] id: UO:0000149 name: derived time unit def: "A derived unit which is a standard measure of the dimension in which events occur in sequence." [] def: "A dervied time unit is a derived unit which is a standard measure of the dimension in which events occur in sequence." [] def: "A unit which is a standard measure of the dimension in which events occur in sequence." [] synonym: "time derived unit" EXACT [] is_a: UO:0000046 ! derived unit property_value: definition:citation "UO_0000149" xsd:string property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001727 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: UO:0000160 name: microeinstein per square meter per second synonym: "microeinstein per second and square meter" EXACT [] is_a: UO:0000127 ! radiation unit property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0004377 xsd:string property_value: IAO:0000117 "Jon Ison" xsd:string [Term] id: UO:0000163 name: mass percent def: "A dimensionless concentration unit which denotes the mass of a substance in a mixture as a percentage of the mass of the entire mixture." [] synonym: "mass percentage" EXACT [] synonym: "w/w" EXACT [] synonym: "weight-weight percentage" EXACT [] xref: SNOMEDCT:444793006 is_a: UO:0000187 ! percent [Term] id: UO:0000165 name: volume percent def: "A dimensionless concentration unit which denotes the volume of the solute in mL per 100 mL of the resulting solution." [] synonym: "% (v/v)" EXACT [] synonym: "volume percentage" EXACT [] is_a: UO:0000187 ! percent [Term] id: UO:0000169 name: part per million def: "A dimensionless concentration notation which denotes the amount of a given substance in a total amount of 1,000,000 regardless of the units of measure used as long as they are the same or 1 part in 10^[6]." [] synonym: "10^[-6]" EXACT [] synonym: "ppm" EXACT [] xref: NCIt:C48523 xref: SNOMEDCT:258731005 is_a: UO:0000186 ! dimensionless unit [Term] id: UO:0000170 name: part per billion def: "A dimensionless concentration notation which denotes the amount of a given substance in a total amount of 1,000,000,000 regardless of the units of measure as long as they are the same or 1 part in 10^[9]." [] synonym: "10^[-9]" EXACT [] synonym: "ppb" EXACT [] xref: NCIt:C70565 xref: SNOMEDCT:282106003 is_a: UO:0000186 ! dimensionless unit [Term] id: UO:0000175 name: gram per liter def: "A gram per liter is a density unit which is equal to mass of an object in grams divided by the volume in liters." [] def: "A mass unit density which is equal to mass of an object in grams divided by the volume in liters." [] synonym: "g/L" EXACT [] xref: SNOMEDCT:258794004 is_a: UO:0000051 ! concentration unit is_a: UO:0000182 ! density unit property_value: definition:citation "UO_0000175" xsd:string property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001810 xsd:string property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0004372 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jon Ison" xsd:string [Term] id: UO:0000176 name: milligram per milliliter def: "A mass unit density which is equal to mass of an object in milligrams divided by the volume in milliliters." [] def: "A milligram per milliliter is a density unit which is equal to mass of an object in milligrams divided by the volume in milliliters." [] synonym: "mg/ml" EXACT [] xref: SNOMEDCT:258798001 is_a: UO:0000182 ! density unit property_value: definition:citation "UO_0000176" xsd:string property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001809 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: UO:0000178 name: unit per milliliter synonym: "U/ml" EXACT [] xref: NCIt:C77607 xref: SNOMEDCT:258948008 is_a: UO:0000186 ! dimensionless unit property_value: definition:citation http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Unit_per_Milliliter xsd:string property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0002932 xsd:string property_value: IAO:0000117 "Jon Ison" xsd:string [Term] id: UO:0000182 name: density unit def: "A density unit is a derived unit which is a standard measure of the influence exerted by some mass." [] def: "A derived unit which is a standard measure of the influence exerted by some mass." [] def: "A unit which is a standard measure of the influence exerted by some mass." [] is_a: UO:0000046 ! derived unit property_value: definition:citation "UO_0000182" xsd:string property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001808 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: UO:0000185 name: degree def: "A decimal degree (in full, a degree of arc, arc degree, or arcdegree), usually denoted by ° (the degree symbol), is a measurement of planeangle is a plane angle unit which is equal to 1/360 of a full rotation or 1.7453310^[-2] rad." [] synonym: "arc degree" EXACT [] synonym: "degree (angle)" EXACT [] xref: SNOMEDCT:246173007 is_a: UO:0000121 ! angle unit property_value: IAO:0000117 "George Gkoutos" xsd:string property_value: IAO:0000117 "Helen Parkinson" xsd:string [Term] id: UO:0000186 name: dimensionless unit def: "A derived unit which is a standard measure of physical quantity consisting of only a numerical number without any units." [] def: "A unit which is a standard measure of physical quantity consisting of only a numerical number without any units." [] is_a: UO:0000046 ! derived unit [Term] id: UO:0000187 name: percent def: "A dimensionless ratio unit which denotes numbers as fractions of 100." [] synonym: "%" EXACT [] xref: SNOMEDCT:118582008 is_a: UO:0000186 ! dimensionless unit [Term] id: UO:0000189 name: count unit def: "A dimensionless unit which denotes a simple count of things." [] synonym: "count" EXACT [] xref: NCIt:C25463 is_a: UO:0000000 ! unit [Term] id: UO:0000191 name: fraction def: "Definition: A dimensionless ratio unit which relates the part (the numerator) to the whole (the denominator). [Wikipedia]" [] xref: NCIt:C25514 is_a: UO:0000186 ! dimensionless unit [Term] id: UO:0000195 name: degree fahrenheit def: "A temperature derived unit which is equal to 5/9ths of a kelvin. Negative 40 degrees Fahrenheit is equal to negative 40 degrees Celsius." [] def: "A temperature unit which is equal to 5/9ths of a kelvin. Negative 40 degrees Fahrenheit is equal to negative 40 degrees Celsius." [] synonym: "degrees_F" EXACT [] synonym: "F" EXACT [] xref: MO:812 xref: NCIt:C44277 xref: SNOMEDCT:257965001 xref: SNOMEDCT:257987005 is_a: UO:0000126 ! derived temperature unit property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001701 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: UO:0000198 name: milliliter per kilogram synonym: "ml/kg" EXACT [] xref: NCIt:C67411 xref: SNOMEDCT:396180007 is_a: UO:0000051 ! concentration unit property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0004380 xsd:string property_value: IAO:0000117 "Jon Ison" xsd:string [Term] id: UO:0000200 name: cell concentration unit def: "A concentration unit which denotes the average cell number in a given volume." [] is_a: UO:0000051 ! concentration unit property_value: IAO:0000117 "george gkoutos" xsd:string [Term] id: UO:0000201 name: cells per milliliter def: "A unit of cell concentration which is equal to one cell in a volume of 1 milliliter." [] synonym: "cells per millilitre" EXACT [] synonym: "cells per ml" EXACT [] xref: NCIt:C74919 is_a: UO:0000200 ! cell concentration unit property_value: IAO:0000117 "george gkoutos" xsd:string [Term] id: UO:0000207 name: milliliter per liter def: "A milliliter per liter is a unit of concentrationdefined as a volume per unit volume unit which is equal to one millionth of a liter of solute in one liter of solution." [] def: "A volume per unit volume unit which is equal to one millionth of a liter of solute in one liter of solution." [] synonym: "ml/l" EXACT [] is_a: UO:0000051 ! concentration unit property_value: definition:citation "UO_0000207" xsd:string property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001807 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: UO:0000209 name: deciliter def: "A deciliter is a volume unit which is equal to one tenth of a liter or 10^-1 L." [] def: "A volume unit which is equal to one tenth of a liter or 10^[-1] L." [] synonym: "dl" EXACT [] xref: MO:624 xref: NCIt:C64697 xref: SNOMEDCT:258771000 is_a: UO:0000095 ! volume unit property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001716 xsd:string property_value: IAO:0000117 "James Malone" xsd:string property_value: IAO:0000117 "Jie Zheng" xsd:string property_value: IAO:0000117 "Jon Ison" xsd:string property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: UO:0000210 name: colony forming unit synonym: "A dimensionless count unit which a measure of viable bacterial numbers. [database_cross_reference: Wikipedia:Wikipedia]" EXACT [] xref: NCIt:C68742 is_a: UO:0000189 ! count unit [Term] id: UO:0000213 name: colony forming unit per milliliter def: "A colony forming unit which a measure of viable bacterial numbers in one milliliter." [] synonym: "colony forming unit per millilitre" EXACT [] xref: NCIt:C68902 is_a: UO:0000189 ! count unit [Term] id: UO:0000221 name: dalton def: "A dalton is a mass unit is an independent unit to the base SI units and is equal to one twelfth of the mass of an unbound atom of the carbon-12 nuclide, at rest and in its ground state." [] def: "An independently to the base SI units defined mass unit which is equal to one twelfth of the mass of an unbound atom of the carbon-12 nuclide, at rest and in its ground state." [] synonym: "Da" EXACT [] synonym: "u" EXACT [] synonym: "unified atomic mass unit" EXACT [] xref: NCIt:C41127 xref: SNOMEDCT:257999003 xref: SNOMEDCT:304608003 xref: SNOMEDCT:420766006 is_a: UO:0000002 ! mass unit property_value: definition:citation "UO_0000221" xsd:string property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001710 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: UO:0000273 name: milligram per liter synonym: "mg/L" EXACT [] xref: SNOMEDCT:258796002 is_a: UO:0000051 ! concentration unit property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0004375 xsd:string [Term] id: UO:0000274 name: microgram per milliliter synonym: "ug/ml" EXACT [] xref: NCIt:C64572 xref: SNOMEDCT:258801007 is_a: UO:0000182 ! density unit property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0002905 xsd:string property_value: IAO:0000117 "Jon Ison" xsd:string [Term] id: UO:0000275 name: nanogram per milliliter synonym: "ng/ml" EXACT [] xref: SNOMEDCT:258806002 is_a: UO:0000182 ! density unit property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0002903 xsd:string property_value: IAO:0000117 "James Malone" xsd:string [Term] id: UO:0000301 name: microgram per liter def: "A mass unit density which is equal to mass of an object in micrograms divided by the volume in liters." [] synonym: "microgram per litre" EXACT [] synonym: "ug/L" EXACT [] xref: NCIt:C67306 xref: SNOMEDCT:258799009 is_a: UO:0000182 ! density unit property_value: IAO:0000117 "george gkoutos" xsd:string [Term] id: United:Kingdom name: United Kingdom synonym: "U.K." EXACT [] xref: GAZ:00002637 is_a: HANCESTRO:0003 {http://purl.org/dc/terms/contributor="http://e-lico.eu/populous#OPPL_pattern"} ! country [Term] id: United:States name: United States synonym: "U.S." EXACT [] synonym: "United States of America" EXACT [] xref: GAZ:00002459 is_a: HANCESTRO:0003 {http://purl.org/dc/terms/contributor="http://e-lico.eu/populous#OPPL_pattern"} ! country property_value: IAO:0000118 "U.S." xsd:string [Term] id: WBls:0000003 name: embryo Ce def: "The whole period of embryogenesis, from the formation of an egg till its hatch. [ http://www.wormbase.org/db/gene/gene?name=wjc ] " [] is_a: EFO:0005858 ! C. elegans embryo stage [Term] id: ZEA:0015075 name: cob def: "The central axis/core of the 'ear' (distal end of the lateral branch/ear shoot) upon which the kernels (caryopses) are borne. The cob is similar to the central spike of the tassel (male inflorescence) in that it produces multiple rows of paired spikelets (polystichous phyllotaxy)." [] synonym: "rachis" EXACT [] is_a: EFO:0000998 ! plant reproductive system structure [Term] id: ZFA:0000003 name: adaxial cells synonym: "adaxial cell" EXACT [] xref: ZFA:0000003 is_a: EFO:0000795 ! animal developmental tissue property_value: IAO:0000117 "James Malone" xsd:string [Term] id: ZFA:0000023 name: forerunner cell group def: "A group of cells that migrate at the leading edge of shield during gastrulation but do not involute. At the end of gastrulation, forerunner cells migrate deep into the embryo and organize to form Kupffer's vesicle." [] synonym: "DFCs" EXACT [] synonym: "dorsal forerunner cells" EXACT [] synonym: "forerunner cells" EXACT [] xref: ZFA:0000023 is_a: EFO:0003332 ! zebrafish embryonic structure property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: ZFA:0000085 name: apical ectodermal ridge pectoral fin bud def: "Apical ectodermal ridge that is part of the pectoral fin bud." [] synonym: "AER pectoral fin" EXACT [] synonym: "apical ectodermal ridge pectoral fin" EXACT [] synonym: "apical ectodermal ridge pectoral fin buds" EXACT [] synonym: "apical ectodermal ridge pectoral fins" EXACT [] synonym: "apical fold pectoral fin" EXACT [] xref: ZFA:0000085 is_a: EFO:0003331 ! zebrafish component property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: ZFA:0000141 name: pectoral fin bud synonym: "pectoral fin buds" EXACT [] xref: ZFA:0000141 is_a: EFO:0003332 ! zebrafish embryonic structure property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: ZFA:0000226 name: lateral ethmoid def: "Large, paired cartilage bones separating the olfactory region from the orbit. Arises from both perichondral and endochondral ossifications (Harrington 1955). Bordered by the mesethmoid anteriorly and overlain by the frontal dorsally, each lateral ethmoid extends medially to meet its fellow posteriorly along the midline. Develops from the laminae orbitonasales." [] synonym: "lateral ethmoids" EXACT [] xref: ZFA:0000226 is_a: EFO:0003331 ! zebrafish component property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: ZFA:0000257 name: pectoral fin cartilage def: "Cartilage which is part of the pectoral fin." [] synonym: "pectoral fin cartilages" EXACT [] xref: ZFA:0000257 is_a: EFO:0003331 ! zebrafish component property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: ZFA:0000265 name: presumptive dorsal mesoderm xref: ZFA:0000265 is_a: EFO:0003332 ! zebrafish embryonic structure property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: ZFA:0000281 name: hair cell posterior macula def: "Specialized neuronal receptor cells of the lateral line and acoustico-vestibular systems. (Also see Anatomical Atlas entry for hair cells by T. Whitfield.)" [] synonym: "sensory hair cells posterior macula" EXACT [] xref: ZFA:0000281 is_a: EFO:0003331 ! zebrafish component property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: ZFA:0000407 name: pectoral girdle def: "Subdivision of free upper limb, which is the proximal segment of an upper limb and links the free upper limb to the trunk; it is demarcated by the plane of the surface of the glenoid fossa from the free upper limb; together with the free upper limb, it constitutes the upper limb. Examples: There are only two instances, right and left pectoral girdles." [] synonym: "girdle - pectoral" EXACT [] synonym: "shoulder bones" EXACT [] synonym: "Shoulder girdle" EXACT [] synonym: "Upper limb girdle" EXACT [] xref: EHDAA:6039 xref: EMAPA:18025 xref: FMA:23217 xref: MA:0000292 xref: MAT:0000181 xref: NCIt:C33547 is_a: EFO:0003858 ! skeleton structure relationship: part_of UBERON:0001434 ! skeletal system property_value: IAO:0000117 "James Malone" xsd:string [Term] id: ZFA:0000541 name: marginal blastomere def: "Cells (incompletely cleaved before the YSL forms), located at the surface just at the rim of the blastodisc, external to the deep blastomeres." [] synonym: "marginal blastomeres" EXACT [] xref: ZFA:0000541 is_a: EFO:0003331 ! zebrafish component property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: ZFA:0000563 name: pectoral fin musculature synonym: "pectoral fin muscle" EXACT [] xref: ZFA:0000563 is_a: EFO:0003331 ! zebrafish component property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: ZFA:0000565 name: pelvic girdle def: "Subdivision of free lower limb, which is the proximal segment of a lower limb and links the free lower limb to the trunk; it is demarcated by the plane of the surface of the acetabular fossa from the free lower limb; together with the free lower limb, it constitutes the lower limb. Examples: There are only two instances, right and left pelvic girdles." [] synonym: "girdle - pelvic" EXACT [] xref: EHDAA:7149 xref: EMAPA:18028 xref: FMA:16581 xref: MA:0000293 xref: MAT:0000182 xref: NCIt:C33291 is_a: UBERON:0003464 ! hindlimb bone property_value: IAO:0000117 "James Malone" xsd:string [Term] id: ZFA:0000669 name: head kidney namespace: zebrafish_anatomy def: "The zebrafish head kidney consists of fused bilateral lobes located in the anterior part of the kidney. It is analogous to the mammalian bone marrow and the primary site of definitive hematopoiesis." [] synonym: "anterior kidney" EXACT [] synonym: "kidney marrow" EXACT [] xref: GOC:cvs xref: ORCiD:0000-0002-2244-7917 xref: PMID:15378083 xref: TAO:0000669 is_a: EFO:0003331 ! zebrafish component relationship: part_of UBERON:0000949 ! endocrine system relationship: part_of UBERON:0002113 ! kidney relationship: part_of UBERON:0002390 ! hematopoietic system [Term] id: ZFA:0000672 name: hyomandibula def: "The hyomandibula is the large, dorsal-most member of the hyoid arch. It begins ossifying in the dorsal edge of the hyosymplectic cartilage near the hyomandibular foramen (4.6 mm NL). Ossification spreads through the cartilage, and sheets of membrane bone form off the cartilage model anteriorly and posteriorly (6.6 mm). In the adult, the hyomandibula has cartilage-capped anterior and posterior articulating heads that meet the sphenotic-prootic fossa and the pterotic fossa, respectively, in synovial joints. A posterior knob of bone develops, also capped in cartilage, and it forms a synovial joint with the opercle." [] synonym: "hyomandibular" EXACT [] xref: ZFA:0000672 is_a: EFO:0003331 ! zebrafish component property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: ZFA:0000678 name: hair cell anterior macula def: "Specialized neuronal receptor cells of the anterior macula. (Also see Anatomical Atlas entry for hair cells by T. Whitfield.)" [] synonym: "sensory hair cells anterior macula" EXACT [] xref: ZFA:0000678 is_a: EFO:0003331 ! zebrafish component property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: ZFA:0000778 name: spinal cord interneuron def: "A CNS interneuron located in the spinal cord." [] synonym: "interneurons spinal cord" EXACT [] xref: ZFA:0000778 is_a: EFO:0003331 ! zebrafish component property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: ZFA:0000821 name: primary neuron hindbrain synonym: "primary neurons hindbrain" EXACT [] xref: ZFA:0000821 is_a: EFO:0003331 ! zebrafish component property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: ZFA:0000841 name: slow muscle cell somite 14 synonym: "slow muscle cells somite 14" EXACT [] xref: ZFA:0000841 is_a: EFO:0003331 ! zebrafish component property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: ZFA:0000963 name: slow muscle cell somite 1 synonym: "slow muscle cells somite 1" EXACT [] xref: ZFA:0000963 is_a: EFO:0003331 ! zebrafish component property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: ZFA:0000972 name: slow muscle cell somite 4 synonym: "slow muscle cells somite 4" EXACT [] xref: ZFA:0000972 is_a: EFO:0003331 ! zebrafish component property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: ZFA:0000973 name: slow muscle cell somite 7 synonym: "slow muscle cells somite 7" EXACT [] xref: ZFA:0000973 is_a: EFO:0003331 ! zebrafish component property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: ZFA:0001047 name: slow muscle cell somite 10 synonym: "slow muscle cells somite 10" EXACT [] xref: ZFA:0001047 is_a: EFO:0003331 ! zebrafish component property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: ZFA:0001104 name: pharyngeal endoderm xref: ZFA:0001104 is_a: EFO:0003331 ! zebrafish component property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: ZFA:0001244 name: epibranchial 5 def: "Epibranchial cartilage that is bilaterally paired and appears as a separate center of chondrification (6.2 mm) posterior to the lateral tip of epibranchial 4 and immediately anterior to the upper end of ceratobranchial 5. In the adult, epibranchial 5 persists as a small, cartilaginous rod extending from the cartilaginous junction of the posterodorsal tip of the uncinate process of epibranchial 4 and tip of ceratobranchial 5, to the cartilaginous junction of ceratobranchial 4 and epibranchial 4." [] synonym: "interbranchial IV" EXACT [] xref: ZFA:0001244 is_a: EFO:0003331 ! zebrafish component property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: ZFA:0001269 name: regenerating fin synonym: "regenerating fins" EXACT [] xref: ZFA:0001269 is_a: EFO:0003331 ! zebrafish component property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: ZFA:0001273 name: ventral mandibular arch def: "The ventral portion of the first pharyngeal arch, comprising the lower jaw." [] synonym: "lower jaw" EXACT [] synonym: "mandible" EXACT [] synonym: "mandibular series" EXACT [] xref: MeSH:D008334 xref: NCIt:C12290 xref: ZFA:0001273 is_a: EFO:0003331 ! zebrafish component property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: ZFA:0001369 name: anterior pancreatic bud synonym: "ventral pancreatic anlage" EXACT [] xref: ZFA:0001369 is_a: EFO:0003332 ! zebrafish embryonic structure property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: ZFA:0001370 name: posterior pancreatic bud synonym: "dorsal pancreatic anlage" EXACT [] xref: ZFA:0001370 is_a: EFO:0003332 ! zebrafish embryonic structure property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: ZFA:0001384 name: pelvic fin bud synonym: "pelvic fin buds" EXACT [] xref: ZFA:0001384 is_a: EFO:0003332 ! zebrafish embryonic structure property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: ZFA:0001385 name: apical ectodermal ridge pelvic fin bud def: "Apical ectodermal ridge that is part of the pelvic fin bud." [] synonym: "apical ectodermal ridge pelvic fin buds" EXACT [] xref: ZFA:0001385 is_a: EFO:0003331 ! zebrafish component property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: ZFA:0001389 name: regeneration epithelium synonym: "epidermal cap" EXACT [] synonym: "wound epidermis" EXACT [] synonym: "wound epithelium" EXACT [] xref: ZFA:0001389 is_a: EFO:0003331 ! zebrafish component property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: ZFA:0001484 name: superficial blastomere def: "Cells (completely cleaved), located at the surface of the blastodisc, above the deep blastomeres." [] synonym: "superficial blastomeres" EXACT [] xref: ZFA:0001484 is_a: EFO:0003331 ! zebrafish component property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: ZFA:0005040 name: posterior lateral mesoderm synonym: "PLM" EXACT [] xref: ZFA:0005040 is_a: EFO:0003331 ! zebrafish component property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: ZFA:0009150 name: Rohon-Beard neuron synonym: "RB neuron" EXACT [] synonym: "Rohon-Beard neurons" EXACT [] xref: ZFA:0009150 is_a: EFO:0003331 ! zebrafish component property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string [Term] id: http://dbpedia.org/resource/China name: China xref: GAZ:00002845 is_a: HANCESTRO:0003 {http://purl.org/dc/terms/contributor="http://e-lico.eu/populous#OPPL_pattern"} ! country [Term] id: http://dbpedia.org/resource/India name: India xref: GAZ:00002839 is_a: HANCESTRO:0003 {http://purl.org/dc/terms/contributor="http://e-lico.eu/populous#OPPL_pattern"} ! country [Term] id: http://dbpedia.org/resource/Iran name: Iran synonym: "Iran (Islamic Republic of)" EXACT [] xref: GAZ:00004474 is_a: HANCESTRO:0003 {http://purl.org/dc/terms/contributor="http://e-lico.eu/populous#OPPL_pattern"} ! country [Term] id: http://dbpedia.org/resource/Japan name: Japan xref: GAZ:00002747 is_a: HANCESTRO:0003 {http://purl.org/dc/terms/contributor="http://e-lico.eu/populous#OPPL_pattern"} ! country [Term] id: http://dbpedia.org/resource/Philippines name: Philippines xref: GAZ:00004525 is_a: HANCESTRO:0003 {http://purl.org/dc/terms/contributor="http://e-lico.eu/populous#OPPL_pattern"} ! country property_value: IAO:0000118 "The Philippines" xsd:string [Term] id: http://dbpedia.org/resource/Republic_of_Ireland name: Republic of Ireland synonym: "Ireland" EXACT [] xref: GAZ:00002943 is_a: HANCESTRO:0003 {http://purl.org/dc/terms/contributor="http://e-lico.eu/populous#OPPL_pattern"} ! country [Typedef] id: BFO:0000054 name: realized in comment: Paraphrase of elucidation: a relation between a realizable entity and a process, where there is some material entity that is bearer of the realizable entity and participates in the process, and the realizable entity comes to be realized in the course of the process property_value: IAO:0000111 "realized in" xsd:string property_value: IAO:0000112 "this disease is realized in this disease course" xsd:string property_value: IAO:0000112 "this fragility is realized in this shattering" xsd:string property_value: IAO:0000112 "this investigator role is realized in this investigation" xsd:string property_value: IAO:0000118 "is realized by" xsd:string property_value: IAO:0000118 "realized_in" xsd:string property_value: IAO:0000600 "[copied from inverse property 'realizes'] to say that b realizes c at t is to assert that there is some material entity d & b is a process which has participant d at t & c is a disposition or role of which d is bearer_of at t& the type instantiated by b is correlated with the type instantiated by c. (axiom label in BFO2 Reference: [059-003])" xsd:string property_value: isDefinedBy http://purl.obolibrary.org/obo/bfo.owl inverse_of: BFO:0000055 ! realizes [Typedef] id: BFO:0000055 name: realizes comment: Paraphrase of elucidation: a relation between a process and a realizable entity, where there is some material entity that is bearer of the realizable entity and participates in the process, and the realizable entity comes to be realized in the course of the process property_value: IAO:0000111 "realizes" xsd:string property_value: IAO:0000112 "this disease course realizes this disease" xsd:string property_value: IAO:0000112 "this investigation realizes this investigator role" xsd:string property_value: IAO:0000112 "this shattering realizes this fragility" xsd:string property_value: IAO:0000600 "to say that b realizes c at t is to assert that there is some material entity d & b is a process which has participant d at t & c is a disposition or role of which d is bearer_of at t& the type instantiated by b is correlated with the type instantiated by c. (axiom label in BFO2 Reference: [059-003])" xsd:string property_value: isDefinedBy http://purl.obolibrary.org/obo/iao.owl [Typedef] id: BFO:0000066 name: occurs in [Typedef] id: EFO:0000741 name: has_tumor_type is_a: EFO:0000824 ! relationship inverse_of: EFO:0000742 ! is_tumor_of [Typedef] id: EFO:0000742 name: is_tumor_of is_a: EFO:0000824 ! relationship [Typedef] id: EFO:0000784 name: has_disease_location domain: EFO:0000408 ! disease range: EFO:0000635 ! organism part is_transitive: true is_a: located_in ! located_in inverse_of: EFO:0000785 ! is_location_of_disease [Typedef] id: EFO:0000785 name: is_location_of_disease domain: EFO:0000635 ! organism part range: EFO:0000408 ! disease is_transitive: true is_a: location_of ! location_of [Typedef] id: EFO:0000794 name: is_broader_than domain: EFO:0000635 ! organism part range: EFO:0000635 ! organism part is_a: EFO:0000824 ! relationship [Typedef] id: EFO:0000824 name: relationship [Typedef] id: EFO:0001697 name: is_unit_of domain: UO:0000000 ! unit is_a: EFO:0000824 ! relationship inverse_of: EFO:0001698 ! has_unit [Typedef] id: EFO:0001698 name: has_unit range: UO:0000000 ! unit is_transitive: true is_a: EFO:0000824 ! relationship [Typedef] id: EFO:0006351 name: has_about_it [Typedef] id: HANCESTRO:0301 name: hasAncestryStatus [Typedef] id: HANCESTRO:0329 name: hasDemonym inverse_of: HANCESTRO:0330 ! isDemonymOf [Typedef] id: HANCESTRO:0330 name: isDemonymOf [Typedef] id: IAO:0000136 name: is_about inverse_of: EFO:0006351 ! has_about_it [Typedef] id: OBI:0000293 name: has_input name: has_specified_input def: "The inverse property of is_specified_input_of" [] property_value: EFO:URI http://www.ebi.ac.uk/efo/has_input xsd:string property_value: IAO:0000111 "has_specified_input" xsd:string property_value: IAO:0000111 "has_specified_input" xsd:string property_value: IAO:0000112 "see is_input_of example_of_usage" xsd:string property_value: IAO:0000114 IAO:0000122 property_value: IAO:0000116 "8/17/09: specified inputs of one process are not necessarily specified inputs of a larger process that it is part of. This is in contrast to how 'has participant' works." xsd:string property_value: IAO:0000117 "PERSON: Alan Ruttenberg" xsd:string property_value: IAO:0000117 "PERSON: Bjoern Peters" xsd:string property_value: IAO:0000117 "PERSON: Larry Hunter" xsd:string property_value: IAO:0000117 "PERSON: Melanie Coutot" xsd:string property_value: IAO:0000412 http://purl.obolibrary.org/obo/obi.owl domain: BFO:0000015 ! process range: EFO:0000001 ! experimental factor is_a: RO:0000057 ! has_participant inverse_of: OBI:0000295 ! is_specified_input_of [Typedef] id: OBI:0000295 name: is_input_of name: is_specified_input_of def: "A relation between a planned process and a continuant participating in that process that is not created during the process. The presence of the continuant during the process is explicitly specified in the plan specification which the process realizes the concretization of." [] property_value: EFO:URI http://www.ebi.ac.uk/efo/is_input_of xsd:string property_value: IAO:0000111 "is_specified_input_of" xsd:string property_value: IAO:0000112 "some Autologous EBV(Epstein-Barr virus)-transformed B-LCL (B lymphocyte cell line) is_input_for instance of Chromum Release Assay described at https://wiki.cbil.upenn.edu/obiwiki/index.php/Chromium_Release_assay" xsd:string property_value: IAO:0000114 IAO:0000122 property_value: IAO:0000117 "Alan Ruttenberg" xsd:string property_value: IAO:0000117 "PERSON:Bjoern Peters" xsd:string domain: EFO:0000001 ! experimental factor range: BFO:0000015 ! process is_a: RO:0000056 ! participates_in [Typedef] id: OBI:0000299 name: has_output name: has_specified_output def: "The inverse property of is_specified_output_of" [] property_value: IAO:0000111 "has_specified_output" xsd:string property_value: IAO:0000111 "has_specified_output" xsd:string property_value: IAO:0000114 IAO:0000122 property_value: IAO:0000117 "PERSON: Alan Ruttenberg" xsd:string property_value: IAO:0000117 "PERSON: Bjoern Peters" xsd:string property_value: IAO:0000117 "PERSON: Larry Hunter" xsd:string property_value: IAO:0000117 "PERSON: Melanie Courtot" xsd:string property_value: IAO:0000412 http://purl.obolibrary.org/obo/obi.owl is_a: RO:0000057 ! has_participant [Typedef] id: OBI:0000300 name: obsolete_is_realized_by def: "Relation between a realizable and a process. Reciprocal relation of realizes [GOC:cjm]" [] property_value: IAO:0000111 "is_realized_by" xsd:string property_value: IAO:0000114 IAO:0000122 property_value: IAO:0000116 "replaced by http://purl.obolibrary.org/obo/BFO_0000054: 'is realized by'" xsd:string property_value: IAO:0000117 GROUP:OBI: xsd:string property_value: IAO:0000117 "PERSON: Chris Mungall" xsd:string property_value: IAO:0000118 "executed_during" xsd:string property_value: IAO:0000118 "has_realization" xsd:string property_value: IAO:0000118 "is_realized_as" xsd:string property_value: IAO:0000231 IAO:0000228 is_obsolete: true [Typedef] id: OBI:0000308 name: obsolete_realizes def: "Relation between a process and a function, where the unfolding of the \nprocess requires the execution of the function. Class level: P realizes F iff: \ngiven any p that instantiates P, there exists some f, t such that f instantiates\n F at t and p *realizes* f. Here, *realizes* is the primitive \ninstance level relation [GOC:cjm]" [] property_value: IAO:0000111 "realizes" xsd:string property_value: IAO:0000112 "example of usage: The process of 'histidine catabolism' (GO:0006548) realizes the \nfunction 'histidine ammonia lyase activity' (GO:0004397) (note: here 'activity' \ndenotes a function and not a process). We leave open the possibility of defining \nin future the sub-relations directly_realizes (as bewteen a function and it's \nfunctioning) and indirectly_realizes." xsd:string property_value: IAO:0000114 IAO:0000122 property_value: IAO:0000116 "replaced by http://purl.obolibrary.org/obo/BFO_0000055: 'realizes'" xsd:string property_value: IAO:0000117 GROUP:OBI: xsd:string property_value: IAO:0000117 "PERSON: Chris Mungal" xsd:string property_value: IAO:0000118 "executes" xsd:string property_value: IAO:0000118 "has_function_part" xsd:string property_value: IAO:0000118 "involves_execution_of" xsd:string property_value: IAO:0000118 "is_realization_of" xsd:string property_value: IAO:0000231 IAO:0000228 is_obsolete: true [Typedef] id: RO:0000056 name: participates_in def: "Participates in is a primitive instance-level relation between a continuant and a process in which it participates. For example a scanner participates in a scanning process at some specific time." [] inverse_of: RO:0000057 ! has_participant [Typedef] id: RO:0000057 name: has_participant def: "Has_participant is a primitive instance-level relation between a process, a continuant, and a time at which the A continuant participates in some way in the process. The relation obtains, for example, when this particular process of oxygen exchange across this particular alveolar membrane has_participant this particular sample of hemoglobin at this particular time." [] [Typedef] id: RO:0000081 name: role_of property_value: EFO:URI http://www.ebi.ac.uk/efo/is_role_of xsd:string domain: BFO:0000023 ! role range: BFO:0000040 ! material entity is_a: characteristic_of ! characteristic_of [Typedef] id: RO:0000086 name: has_quality property_value: EFO:URI http://www.ebi.ac.uk/efo/has_quality xsd:string range: BFO:0000019 ! quality is_a: has_characteristic ! bearer_of [Typedef] id: RO:0001000 name: derives_from def: "Derivation as a relation between instances. The temporal relation of derivation is more complex. Transformation, on the instance level, is just the relation of identity: each adult is identical to some child existing at some earlier time. Derivation on the instance-level is a relation holding between non-identicals. More precisely, it holds between distinct material continuants when one succeeds the other across a temporal divide in such a way that at least a biologically significant portion of the matter of the earlier continuant is inherited by the later. Thus we will have axioms to the effect that from c derives_from c1 we can infer that c and c1 are not identical and that there is some instant of time t such that c1 exists only prior to and c only subsequent to t. We will also be able to infer that the spatial region occupied by c as it begins to exist at t overlaps with the spatial region occupied by c1 as it ceases to exist in the same instant." [] property_value: EFO:URI http://www.ebi.ac.uk/efo/derives_from xsd:string is_transitive: true inverse_of: RO:0001001 ! derives_into [Typedef] id: RO:0001001 name: derives_into property_value: EFO:URI http://www.ebi.ac.uk/efo/derived_into xsd:string is_transitive: true [Typedef] id: RO:0001018 name: contained_in def: "Containment obtains in each case between material and immaterial continuants, for instance: lung contained_in thoracic cavity; bladder contained_in pelvic cavity. Hence containment is not a transitive relation. If c part_of c1 at t then we have also, by our definition and by the axioms of mereology applied to spatial regions, c located_in c1 at t. Thus, many examples of instance-level location relations for continuants are in fact cases of instance-level parthood. For material continuants location and parthood coincide. Containment is location not involving parthood, and arises only where some immaterial continuant is involved. To understand this relation, we first define overlap for continuants as follows: c1 overlap c2 at t =def for some c, c part_of c1 at t and c part_of c2 at t." [] property_value: EFO:URI http://www.ebi.ac.uk/efo/contained_in xsd:string is_a: has_characteristic ! bearer_of inverse_of: contains ! contains [Typedef] id: RO:0002104 name: has_plasma_membrane_part [Typedef] id: RO:0002174 name: dubious_for_taxon namespace: uberon def: "S dubious_for_taxon T if it is probably the case that no instances of S can be found in any instance of T." [https://orcid.org/0000-0002-6601-2165] comment: this relation lacks a strong logical interpretation, but can be used in place of never_in_taxon where it is desirable to state that the definition of the class is too strict for the taxon under consideration, but placing a never_in_taxon link would result in a chain of inconsistencies that will take time to resolve. Example: metencephalon in teleost is_metadata_tag: true is_class_level: true [Typedef] id: RO:0002200 name: has phenotype def: "A relationship that holds between a biological entity and a phenotype. Here a phenotype is construed broadly as any kind of quality of an organism part, a collection of these qualities, or a change in quality or qualities (e.g. abnormally increased temperature). The subject of this relationship can be an organism (where the organism has the phenotype, i.e. the qualities inhere in parts of this organism), a genomic entity such as a gene or genotype (if modifications of the gene or the genotype causes the phenotype), or a condition such as a disease (such that if the condition inheres in an organism, then the organism has the phenotype)." [] inverse_of: RO:0002201 ! phenotype of [Typedef] id: RO:0002201 name: phenotype of subset: ro-eco property_value: IAO:0000114 IAO:0000125 property_value: IAO:0000117 "Chris Mungall" xsd:string is_functional: true [Typedef] id: RO:0002211 name: regulates [Typedef] id: RO:0002314 name: inheres in part of def: "q inheres in part of w if and only if there exists some p such that q inheres in p and p part of w." [] property_value: IAO:0000116 "Because part_of is transitive, inheres in is a sub-relation of inheres in part of" xsd:string property_value: RO:0001900 RO:0001901 holds_over_chain: characteristic_of part_of is_a: RO:0002502 ! depends on [Typedef] id: RO:0002473 name: composed primarily of def: "x composed_primarily_of y if and only if more than half of the mass of x is made from y or units of the same type as y." [] property_value: IAO:0000112 "'otolith organ' SubClassOf 'composed primarily of' some 'calcium carbonate'" xsd:string property_value: RO:0001900 RO:0001901 is_a: has_part ! has part [Typedef] id: RO:0002502 name: depends on property_value: seeAlso BFO:0000169 [Typedef] id: RO:0004027 name: disease has inflammation site def: "A relationship between a disease and an anatomical entity where the disease is triggered by an inflammatory response to stimuli occurring in the anatomical entity" [] domain: EFO:0000408 ! disease is_a: EFO:0000784 ! has_disease_location [Typedef] id: UBPROP:0000202 name: fma_set_term namespace: uberon comment: FMA has terms like 'set of X'. In general we do not include set-of terms in uberon, but provide a mapping between the singular form and the FMA set term is_metadata_tag: true [Typedef] id: axiom_lost_from_external_ontology name: axiom_lost_from_external_ontology namespace: uberon def: "A textual description of an axiom loss in this ontology compared to an external ontology." [https://orcid.org/0000-0002-6601-2165] comment: This annotation property may be replaced with an annotation property from an external ontology such as IAO xref: UBPROP:0000002 is_metadata_tag: true [Typedef] id: capable_of name: capable of namespace: uberon xref: RO:0002215 [Typedef] id: characteristic_of name: characteristic of name: characteristic_of name: inheres in name: inheres_in namespace: fly_anatomy.ontology def: "a relation between a specifically dependent continuant (the characteristic) and any other entity (the bearer), in which the characteristic depends on the bearer for its existence." [] def: "a relation between a specifically dependent continuant (the dependent) and an independent continuant (the bearer), in which the dependent specifically depends on the bearer for its existence" [] comment: Note that this relation was previously called "inheres in", but was changed to be called "characteristic of" because BFO2 uses "inheres in" in a more restricted fashion. This relation differs from BFO2:inheres_in in two respects: (1) it does not impose a range constraint, and thus it allows qualities of processes, as well as of information entities, whereas BFO2 restricts inheres_in to only apply to independent continuants (2) it is declared functional, i.e. something can only be a characteristic of one thing. xref: RO:0000052 property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0000829 xsd:string property_value: IAO:0000111 "inheres in" xsd:string property_value: IAO:0000112 "this fragility inheres in this vase" xsd:string property_value: IAO:0000112 "this fragility is a characteristic of this vase" xsd:string property_value: IAO:0000112 "this red color inheres in this apple" xsd:string property_value: IAO:0000112 "this red color is a characteristic of this apple" xsd:string property_value: IAO:0000116 "A dependent inheres in its bearer at all times for which the dependent exists." xsd:string property_value: IAO:0000118 "inheres_in" xsd:string property_value: RO:0001900 RO:0001901 is_functional: true is_a: RO:0002314 ! inheres in part of inverse_of: has_characteristic ! bearer_of [Typedef] id: contains name: contains namespace: uberon xref: RO:0001019 property_value: EFO:URI http://www.ebi.ac.uk/efo/contains xsd:string [Typedef] id: dc-creator name: creator namespace: uberon xref: http://purl.org/dc/elements/1.1/creator is_metadata_tag: true [Typedef] id: develops_from name: derives from/develops from name: develops_from namespace: uberon xref: RO:0002202 holds_over_chain: part_of develops_from is_transitive: true transitive_over: part_of ! part_of [Typedef] id: disease_arises_from_feature name: disease arises from feature xref: RO:0004022 [Typedef] id: disease_causes_feature name: disease causes feature [Typedef] id: disease_has_feature name: disease has feature def: "A relationship between a disease and some feature of that disease, where the feature is either a phenotype or an isolated disease." [] xref: RO:0004029 [Typedef] id: disease_has_major_feature name: disease has major feature is_a: disease_has_feature ! disease has feature [Typedef] id: disease_shares_features_of name: disease shares features of [Typedef] id: external_definition name: external_definition namespace: uberon def: "\nAn alternate textual definition for a class taken unmodified from an external source. This definition may have been used to derive a generalized definition for the new class.\n" [] def: "An alternate textual definition for a class taken unmodified from an external source. This definition may have been used to derive a generalized definition for the new class." [https://orcid.org/0000-0002-6601-2165] comment: \nThis annotation property may be replaced with an annotation property from an external ontology such as IAO\n comment: This annotation property may be replaced with an annotation property from an external ontology such as IAO xref: UBPROP:0000001 is_metadata_tag: true [Typedef] id: has:flag name: has_flag def: "Relation to flag that an EFO class qualifies as an Atlas validation type" [] property_value: EFO:URI http://www.ebi.ac.uk/efo/has_flag xsd:string is_obsolete: true [Typedef] id: has_characteristic name: bearer_of name: has characteristic def: "A relation between an entity and a dependent continuant; the reciprocal relation of inheres_in [GOC:cjm] example of usage: red eye bearer_of redness" [] xref: RO:0000053 property_value: EFO:URI http://www.ebi.ac.uk/efo/EFO_0001377 xsd:string [Typedef] id: has_modifier name: has modifier xref: RO:0002573 [Typedef] id: has_part name: has part name: has_part xref: BFO:0000051 property_value: EFO:URI http://www.ebi.ac.uk/efo/has_part xsd:string is_transitive: true [Typedef] id: has_relational_adjective name: has_relational_adjective namespace: uberon comment: Used to connect a class to an adjectival form of its label. For example, a class with label 'intestine' may have a relational adjective 'intestinal'. xref: UBPROP:0000007 is_metadata_tag: true [Typedef] id: has_role name: has_role def: "A relation between a continuant C and a role R. The reciprocal relation of role_of." [] property_value: EFO:URI http://www.ebi.ac.uk/efo/has_role xsd:string range: BFO:0000023 ! role is_a: has_characteristic ! bearer_of inverse_of: RO:0000081 ! role_of [Typedef] id: homology_notes name: homology_notes namespace: uberon def: "Notes on the homology status of this class." [https://orcid.org/0000-0002-6601-2165] comment: \nThis annotation property may be replaced with an annotation property from an external ontology such as IAO\n comment: This annotation property may be replaced with an annotation property from an external ontology such as IAO xref: UBPROP:0000003 is_metadata_tag: true [Typedef] id: http://purl.obolibrary.org/obo/OBI:0000300 comment: obsolete in OBI with "replaced by BFO:0000054" but can not find BFO:0000054. [Typedef] id: http://www.ebi.ac.uk/efo/is_executed_in name: is_executed_in is_transitive: true [Typedef] id: is_count_of name: is count of namespace: uberon xref: UBPROP:0000100 is_metadata_tag: true [Typedef] id: located_in name: located_in namespace: uberon xref: RO:0001025 property_value: EFO:URI http://www.ebi.ac.uk/efo/located_in xsd:string [Typedef] id: location_of name: location_of namespace: uberon xref: RO:0001015 property_value: EFO:URI http://www.ebi.ac.uk/efo/location_of xsd:string inverse_of: located_in ! located_in [Typedef] id: never_in_taxon name: never_in_taxon namespace: uberon def: "S never_in_taxon T iff: S SubClassOf in_taxon only not T" [PMID:20973947] xref: RO:0002161 expand_assertion_to: "Class: EquivalentTo: ?X and (RO_0002162 some ?Y)" [] is_metadata_tag: true is_class_level: true [Typedef] id: only_in_taxon name: only in taxon name: only_in_taxon namespace: uberon def: "S only_in_taxon T iff: S SubClassOf in_taxon only T" [PMID:20973947] xref: RO:0002160 [Typedef] id: part_of name: part of name: part_of namespace: external namespace: quality namespace: relationship namespace: spatial namespace: uberon def: "a core relation that holds between a part and its whole" [] def: "For continuants: C part_of C' if and only if: given any c that instantiates C at a time t, there is some c' such that c' instantiates C' at time t, and c *part_of* c' at t. For processes: P part_of P' if and only if: given any p that instantiates P at a time t, there is some p' such that p' instantiates P' at time t, and p *part_of* p' at t. (Here *part_of* is the instance-level part-relation.)" [] comment: EFO_0000822 subset: http://purl.obolibrary.org/obo/valid_for_go_annotation_extension subset: http://purl.obolibrary.org/obo/valid_for_go_gp2term subset: http://purl.obolibrary.org/obo/valid_for_go_ontology subset: http://purl.obolibrary.org/obo/valid_for_gocam synonym: "part of" EXACT [] xref: BFO:0000050 xref: OBO_REL:part_of property_value: EFO:URI http://www.ebi.ac.uk/efo/part_of xsd:string property_value: IAO:0000111 "is part of" xsd:string property_value: IAO:0000112 "my brain is part of my body (continuant parthood, two material entities)" xsd:string property_value: IAO:0000112 "my stomach cavity is part of my stomach (continuant parthood, immaterial entity is part of material entity)" xsd:string property_value: IAO:0000112 "this day is part of this year (occurrent parthood)" xsd:string property_value: IAO:0000116 "Everything is part of itself. Any part of any part of a thing is itself part of that thing. Two distinct things cannot be part of each other." xsd:string property_value: IAO:0000116 "Occurrents are not subject to change and so parthood between occurrents holds for all the times that the part exists. Many continuants are subject to change, so parthood between continuants will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/" xsd:string property_value: IAO:0000116 "Occurrents are not subject to change and so parthood between occurrents holds for all the times that the part exists. Many continuants are subject to change, so parthood between continuants will only hold at certain times, but this is difficult to specify in OWL. See https://code.google.com/p/obo-relations/wiki/ROAndTime" xsd:string property_value: IAO:0000116 "Parthood requires the part and the whole to have compatible classes: only an occurrent can be part of an occurrent; only a process can be part of a process; only a continuant can be part of a continuant; only an independent continuant can be part of an independent continuant; only an immaterial entity can be part of an immaterial entity; only a specifically dependent continuant can be part of a specifically dependent continuant; only a generically dependent continuant can be part of a generically dependent continuant. (This list is not exhaustive.)\n\nA continuant cannot be part of an occurrent: use 'participates in'. An occurrent cannot be part of a continuant: use 'has participant'. A material entity cannot be part of an immaterial entity: use 'has location'. A specifically dependent continuant cannot be part of an independent continuant: use 'inheres in'. An independent continuant cannot be part of a specifically dependent continuant: use 'bearer of'." xsd:string property_value: IAO:0000118 "part_of" xsd:string property_value: RO:0001900 RO:0001901 property_value: RO:0040042 BFO:0000002 property_value: RO:0040042 BFO:0000003 property_value: RO:0040042 BFO:0000004 property_value: RO:0040042 BFO:0000017 property_value: RO:0040042 BFO:0000019 property_value: RO:0040042 BFO:0000020 property_value: RO:0040042 BFO:0000031 property_value: seeAlso http://ontologydesignpatterns.org/wiki/Community:Parts_and_Collections property_value: seeAlso http://ontologydesignpatterns.org/wiki/Submissions:PartOf property_value: seeAlso http://www.obofoundry.org/ro/#OBO_REL:part_of xsd:string property_value: seeAlso https://wiki.geneontology.org/Part_of xsd:anyURI is_transitive: true inverse_of: has_part ! has part [Typedef] id: part_of_progression_of_disease name: part of progression of disease [Typedef] id: preceding_element_is name: preceding element is namespace: uberon def: "A property used in conjunction with repeated_element_number to indicate an axis and directionality along that axis. If P preceding_element_is R, and P is_count_of S, and X P N, and X' P N+1, then it follows that every X R some X', and the class expression [S and R some X' and inv(R) some X] is empty (i.e. X is followed by X', with no intermediates)" [https://orcid.org/0000-0002-6601-2165] xref: UBPROP:0000101 is_metadata_tag: true [Typedef] id: predisposes_towards name: predisposes towards [Typedef] id: produces name: produces namespace: uberon def: "a produces b if some process that occurs_in a has_output b, where a and b are material entities. Examples: hybridoma cell line produces monoclonal antibody reagent; chondroblast produces avascular GAG-rich matrix." [] xref: RO:0003000 [Typedef] id: qualifier name: has component comment: For use in recording has_part with a cardinality constraint. comment: placeholder relation to indicate normality/abnormality. xref: RO:0002180 property_value: IAO:0000114 IAO:0000125 property_value: RO:0001900 RO:0001901 is_a: has_part ! has part [Typedef] id: related_to name: related to [Typedef] id: rhombomere_number name: rhombomere number namespace: uberon def: "x rhombomere_number N if and only if (i) x is a rhombomere, and (ii) x is rhombomere number N in a series of rhombomeres repeated along an anterior-posterior axis, with rhombomere_number 1 being the anteriormost rhombomere." [https://orcid.org/0000-0002-6601-2165] xref: UBPROP:0000111 property_value: is_count_of UBERON:0001892 property_value: preceding_element_is BSPO:0000096 is_metadata_tag: true [Typedef] id: seeAlso name: see also namespace: uberon xref: http://www.w3.org/2000/01/rdf-schema#seeAlso is_metadata_tag: true [Typedef] id: taxon_notes name: taxon_notes namespace: uberon xref: UBPROP:0000008 is_metadata_tag: true [Typedef] id: towards name: towards xref: RO:0002503